id	category	name	description	xref	provided_by	synonym	iri	same_as	subsets
MONDO:0002974	biolink:Disease	cervical cancer	A primary or metastatic malignant neoplasm involving the cervix.	ICD9:180|OMIM:603956|SCTID:363354003|ICD9:180.8|NCIT:C9311|DOID:4362|ICD9:180.9	mondo.json	malignant neoplasm of cervix uteri|cervix uteri cancer|malignant cervix uteri tumor|malignant neoplasm of the cervix uteri|malignant cervix neoplasm|malignant uterine cervix tumor|malignant neoplasm of the uterine cervix|cervix cancer|tumor of the cervix uteri|malignant tumor of cervix|malignant tumor of the cervix|malignant cervical tumor|malignant cervical neoplasm|uterine cervical neoplasm|malignant tumor of cervix uteri|malignant tumor of uterine cervix|malignant tumor of the cervix uteri|malignant uterine cervix neoplasm|cervical cancer, somatic|malignant tumor of the uterine cervix|malignant neoplasm of cervix|cervical neoplasm|malignant neoplasm of the cervix|malignant cervix tumor|malignant neoplasm of uterine cervix|malignant cervix uteri neoplasm|cancer of uterine cervix|uterine cervix cancer	http://purl.obolibrary.org/obo/MONDO_0002974	NCIT:C9311|DOID:4362|https://omim.org/entry/603956|http://identifiers.org/snomedct/363354003	
MONDO:0000311	biolink:Disease	obsolete congenital hypothyroidism			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000311		
MONDO:0000310	biolink:Disease	Alkhurma hemorrhagic fever	A disease caused by infection with Alkhumra hemorrhagic fever virus.	DOID:0050308	mondo.json	Alkhumra hemorrhagic fever virus disease or disorder|Alkhumra hemorrhagic fever virus infectious disease|Alkhumra hemorrhagic fever virus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000310	DOID:0050308	
MONDO:0002975	biolink:Disease	malignant breast melanoma	A melanoma that arises usually from the breast skin and less often from the breast glandular tissue. Primary breast melanomas are rare.	NCIT:C8410|SCTID:188050009|DOID:4364|UMLS:C0346787	mondo.json	malignant breast melanoma|breast melanoma (disease)|melanoma (disease) of breast|breast melanoma|malignant melanoma of breast|malignant melanoma of the breast	http://purl.obolibrary.org/obo/MONDO_0002975	NCIT:C8410|DOID:4364|http://identifiers.org/snomedct/188050009|UMLS:C0346787	
MONDO:0002976	biolink:Disease	stomach diverticulosis	A pathological condition characterized by the presence of a number of gastric diverticula in the stomach.	UMLS:C1148546|DOID:4370|MESH:D045724	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002976	DOID:4370|http://identifiers.org/mesh/D045724|UMLS:C1148546	
HP:0011772	biolink:PhenotypicFeature	Abnormal thyroid morphology	A structural abnormality of the thyroid gland.	UMLS:C4023195	mondo.json	Abnormal shape of thyroid gland|Abnormality of thyroid morphology	http://purl.obolibrary.org/obo/HP_0011772		
MONDO:0002977	biolink:Disease	autoimmune disorder of the nervous system	A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis.	NCIT:C99383|UMLS:C0751872|DOID:438|UMLS:C0751871|MESH:D020274	mondo.json	autoimmune disorders of the nervous system|autoimmune disease of nervous system|nervous system immune disorders|neurologic autoimmune diseases|autoimmune nervous system disorder|nervous system autoimmune disease|immune disorders, nervous system|autoimmune diseases, nervous system|autoimmune disorders, nervous system|immune diseases, nervous system|autoimmune disease, neurologic|diseases, neurologic autoimmune|nervous system autoimmune diseases|nervous system immune diseases|disease, neurologic autoimmune|nervous system hypersensitivity reaction type II disease|autoimmune diseases, neurologic|autoimmune nervous system diseases|neurologic autoimmune disease	http://purl.obolibrary.org/obo/MONDO_0002977	DOID:438|NCIT:C99383|UMLS:C0751871|UMLS:C0751872|http://identifiers.org/mesh/D020274	
MONDO:0002970	biolink:Disease	ciliary body disorder	A disease involving the ciliary body.	DOID:4353|SCTID:68575007|NCIT:C35775|UMLS:C0271100	mondo.json	disease of ciliary body|disease or disorder of ciliary body|ciliary body disorder|ciliary body disease|ciliary body disease or disorder|disorder of ciliary body	http://purl.obolibrary.org/obo/MONDO_0002970	DOID:4353|http://identifiers.org/snomedct/68575007|UMLS:C0271100|NCIT:C35775	
MONDO:0000315	biolink:Disease	commensal bacterial infectious disease	A bacterial infectious disease that results in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder.	DOID:0050339	mondo.json	opportunistic bacterial infectious disease	http://purl.obolibrary.org/obo/MONDO_0000315	DOID:0050339	
UBERON:0011591	biolink:AnatomicalEntity	tract of diencephalon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011591		
MONDO:0002971	biolink:Disease	amelanotic melanoma	A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction.	DOID:4359|NCIT:C3802|EFO:1001937|MESH:D018328|ICDO:8730/3|UMLS:C0206735	mondo.json	amelanotic melanoma|melanomas, amelanotic|melanoma, amelanotic, malignant|amelanotic melanomas|amelanotic melanoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0002971	DOID:4359|UMLS:C0206735|http://identifiers.org/mesh/D018328|NCIT:C3802	
MONDO:0000314	biolink:Disease	primary bacterial infectious disease		DOID:0050338	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000314	DOID:0050338	
UBERON:0011590	biolink:AnatomicalEntity	commissure of diencephalon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011590		
MONDO:0000313	biolink:Disease	hypophosphatemia	Lower than normal levels of phosphates in the circulating blood.	DOID:0050336|NCIT:C37977|SCTID:4996001|MESH:D017674|HP:0002148|UMLS:C0085682	mondo.json	hypophosphatemia|hypophosphatemia (disease)	http://purl.obolibrary.org/obo/MONDO_0000313	NCIT:C37977|http://identifiers.org/snomedct/4996001|UMLS:C0085682|DOID:0050336|http://identifiers.org/mesh/D017674	
MONDO:0002972	biolink:Disease	posterior mediastinum cancer	A malignant neoplasm involving the posterior mediastinum.	ICD9:164.3|SCTID:448670003|DOID:436|UMLS:C0153502	mondo.json	cancer of posterior mediastinum|malignant posterior mediastinum neoplasm|malignant neoplasm of posterior mediastinum|posterior mediastinum cancer	http://purl.obolibrary.org/obo/MONDO_0002972	DOID:436|http://identifiers.org/snomedct/448670003|UMLS:C0153502	
MONDO:0002973	biolink:Disease	epithelioid cell melanoma	A melanoma characterized by the presence of malignant large epithelioid melanocytes.	NCIT:C4236|UMLS:C0334443|ICDO:8771/3|DOID:4360	mondo.json	epithelioid cell melanoma|epithelioid melanoma|epithelioid cell melanoma (morphologic abnormality)|epithelioid cell malignant melanoma	http://purl.obolibrary.org/obo/MONDO_0002973	DOID:4360|NCIT:C4236|UMLS:C0334443	
MONDO:0000312	biolink:Disease	obsolete enlarged vestibular aqueduct			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000312		
UBERON:0011595	biolink:AnatomicalEntity	jaw region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011595		
MONDO:0014959	biolink:Disease	mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		OMIM:617184|UMLS:C4310676|DOID:0080130	mondo.json	mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD|MTDPS12A|mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant|mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant; MTDPS12A	http://purl.obolibrary.org/obo/MONDO_0014959	DOID:0080130|UMLS:C4310676|https://omim.org/entry/617184	
UBERON:0011594	biolink:AnatomicalEntity	dentary tooth			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011594		
MONDO:0014958	biolink:Disease	Harel-Yoon syndrome	A syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy.	UMLS:C4310677|OMIM:617183|Orphanet:496790	mondo.json	HAYOS|Harel-Yoon syndrome|Harel-Yoon syndrome; HAYOS|optic atrophy-peripheral neuropathy-developmental delay syndrome	http://purl.obolibrary.org/obo/MONDO_0014958	UMLS:C4310677|https://omim.org/entry/617183|Orphanet:496790	obsoletion_candidate|ordo_disease
UBERON:0011593	biolink:AnatomicalEntity	maxillary tooth			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011593		
MONDO:0014957	biolink:Disease	language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia		UMLS:C4310678|OMIM:617182	mondo.json	language delay and attention Deficit-hyperactivity disorder/cognitive impairment with or without Cardiac arrhythmia|language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia; LADCI|language delay and ADHD/cognitive impairment with or without cardiac arrhythmia|LADCI	http://purl.obolibrary.org/obo/MONDO_0014957	UMLS:C4310678|https://omim.org/entry/617182	
UBERON:0011592	biolink:AnatomicalEntity	future upper lip			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011592		
UBERON:0011597	biolink:AnatomicalEntity	bone of upper jaw			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011597		
UBERON:0011596	biolink:AnatomicalEntity	future lower lip			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011596		
MONDO:0014963	biolink:Disease	Shashi-Pena syndrome		OMIM:617190|UMLS:C4310672	mondo.json	SHAPNS|Shashi-Pena syndrome; SHAPNS|Shashi-Pena syndrome	http://purl.obolibrary.org/obo/MONDO_0014963	https://omim.org/entry/617190|UMLS:C4310672	
MONDO:0012300	biolink:Disease	prostate cancer, hereditary, 6		OMIM:609558|UMLS:C1836005|MESH:C563699	mondo.json	HPC6|prostate cancer, hereditary, type 6|prostate cancer, hereditary, 6|prostate cancer, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0012300	UMLS:C1836005|http://identifiers.org/mesh/C563699|https://omim.org/entry/609558	
MONDO:0012301	biolink:Disease	mitochondrial DNA depletion syndrome, myopathic form	Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.	OMIM:609560|SCTID:703527003|DOID:0080120|Orphanet:254875|ICD9:359.89|UMLS:C3501891|MESH:C563698	mondo.json	mitochondrial DNA depletion syndrome 2|mitochondrial DNA depletion syndrome type 2|MTDPS2|mitochondrial DNA depletion myopathy, Tk2-related|mtDNA depletion syndrome, myopathic form|mitochondrial DNA depletion syndrome 2 (myopathic type)	http://purl.obolibrary.org/obo/MONDO_0012301	DOID:0080120|Orphanet:254875|UMLS:C3501891|http://identifiers.org/mesh/C563698|https://omim.org/entry/609560|http://identifiers.org/snomedct/703527003	ordo_disease
MONDO:0014962	biolink:Disease	intellectual disability, autosomal recessive 57	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MBOAT7 gene.	UMLS:C4310673|OMIM:617188	mondo.json	intellectual disability, autosomal recessive type 57|MBOAT7 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 57|autosomal recessive non-syndromic intellectual disability caused by mutation in MBOAT7|MRT57|intellectual disability, autosomal recessive 57|intellectual developmental disorder, autosomal recessive 57|mental retardation, autosomal recessive type 57	http://purl.obolibrary.org/obo/MONDO_0014962	UMLS:C4310673|https://omim.org/entry/617188	
MONDO:0014961	biolink:Disease	spermatogenic failure 16	Any azoospermia in which the cause of the disease is a mutation in the SUN5 gene.	UMLS:C4310674|DOID:0070184|OMIM:617187	mondo.json	spermatogenic failure 16|spermatogenic failure type 16|spermatogenic failure 16; SPGF16|azoospermia caused by mutation in SUN5|acephalic spermatozoa syndrome|SUN5 azoospermia|SPGF16	http://purl.obolibrary.org/obo/MONDO_0014961	DOID:0070184|UMLS:C4310674|https://omim.org/entry/617187	
MONDO:0014960	biolink:Disease	encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy		OMIMPS:617186|UMLS:C4310675	mondo.json	encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy; PEBEL|encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy|PEBEL	http://purl.obolibrary.org/obo/MONDO_0014960	UMLS:C4310675|https://omim.org/phenotypicSeries/PS617186	ordo_disease
UBERON:0011589	biolink:AnatomicalEntity	non-mineralized cartilage tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011589		
MONDO:0014967	biolink:Disease	heterotaxy, visceral, 8, autosomal	Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene.	OMIM:617205|UMLS:C4310668	mondo.json	heterotaxy, visceral, 8, autosomal; HTX8|heterotaxy, visceral, 8, autosomal|HTX8|visceral heterotaxy caused by mutation in PKD1L1|PKD1L1 visceral heterotaxy	http://purl.obolibrary.org/obo/MONDO_0014967	UMLS:C4310668|https://omim.org/entry/617205	
MONDO:0012304	biolink:Disease	photoparoxysmal response 2		OMIM:609572|UMLS:C1835967	mondo.json	photoparoxysmal response 2|PPR2|photoparoxysmal response with or without idiopathic generalized epilepsy	http://purl.obolibrary.org/obo/MONDO_0012304	https://omim.org/entry/609572|UMLS:C1835967	
MONDO:0012305	biolink:Disease	photoparoxysmal response 3		OMIM:609573|MESH:C563695|UMLS:C1835966	mondo.json	PPR3|photoparoxysmal response 3|photoparoxysmal response with or without myoclonic epilepsy	http://purl.obolibrary.org/obo/MONDO_0012305	http://identifiers.org/mesh/C563695|https://omim.org/entry/609573|UMLS:C1835966	
MONDO:0014966	biolink:Disease	periventricular nodular heterotopia 7	Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene.	OMIM:617201|UMLS:C4310669	mondo.json	PVNH7|NEDD4L periventricular nodular heterotopia|periventricular nodular heterotopia 7; PVNH7|periventricular nodular heterotopia 7|periventricular nodular heterotopia type 7|periventricular nodular heterotopia caused by mutation in NEDD4L	http://purl.obolibrary.org/obo/MONDO_0014966	UMLS:C4310669|https://omim.org/entry/617201	
MONDO:0014965	biolink:Disease	lethal congenital contracture syndrome 11	Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the GLDN gene.	OMIM:617194|UMLS:C4310670|GARD:0013220	mondo.json	lethal congenital contracture syndrome 11; LCCS11|GLDN lethal congenital contracture syndrome|lethal congenital contracture syndrome 11|lethal congenital contracture arthrogryposis-11|LCCS11|lethal congenital contracture syndrome caused by mutation in GLDN|lethal congenital contracture syndrome type 11	http://purl.obolibrary.org/obo/MONDO_0014965	https://omim.org/entry/617194|UMLS:C4310670	
MONDO:0012302	biolink:Disease	parietal foramina 3		MESH:C563697|UMLS:C1835980|OMIM:609566	mondo.json	PFM3|parietal foramina 3	http://purl.obolibrary.org/obo/MONDO_0012302	http://identifiers.org/mesh/C563697|https://omim.org/entry/609566|UMLS:C1835980	
MONDO:0012303	biolink:Disease	migraine with or without aura, susceptibility to, 8		OMIM:609570	mondo.json	migraine, susceptibility to, 8|migraine with or without aura, susceptibility to, 8|migraine with or without aura, susceptibility to, type 8|Mgr8	http://purl.obolibrary.org/obo/MONDO_0012303	https://omim.org/entry/609570	predisposition
MONDO:0014964	biolink:Disease	obsolete encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum			mondo.json		http://purl.obolibrary.org/obo/MONDO_0014964		
MONDO:0000308	biolink:Disease	primary systemic mycosis	A systemic mycosis that arises from infection in an immunologically normal host.	DOID:0050292	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000308	DOID:0050292	
NCBITaxon:75739	biolink:OrganismalEntity	Eucoccidiorida		GC_ID:1	mondo.json	Eucoccidiida	http://purl.obolibrary.org/obo/NCBITaxon_75739		
MONDO:0000307	biolink:Disease	parasitic Ichthyosporea infectious disease	A disease caused by infection with Ichthyosporea.	DOID:0050291	mondo.json	Ichthyosporea infectious disease|Ichthyosporea caused disease or disorder|Ichthyosporea disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000307	DOID:0050291	
HGNC:6470	biolink:NamedThing	L1CAM			mondo.json		http://identifiers.org/hgnc/6470		
MONDO:0000306	biolink:Disease	trichosporonosis	Fungal infections caused by trichosporon that may become systemic especially in an immunocompromised host. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs.	DOID:0050290|SCTID:240761008|UMLS:C0343939|MESH:D060586	mondo.json	Trichosporon infectious disease|Trichosporon disease or disorder|Trichosporon caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000306	http://identifiers.org/mesh/D060586|DOID:0050290|UMLS:C0343939|http://identifiers.org/snomedct/240761008	
MONDO:0000305	biolink:Disease	obsolete fusariosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000305		
MONDO:0002967	biolink:Disease	dermatophytosis of scalp or beard	Dermatophytosis involving the stratum corneum of the skin of the scalp and beard area.	UMLS:C0011640|SCTID:266148000|DOID:4337|NCIT:C34536|UMLS:C1274426|ICD9:110.0	mondo.json	tinea capitis|dermatophytosis of scalp|Trichophyton rubrum tinea capitis|tinea capitis due to Trichophyton rubrum|scalp dermatophytosis|scalp ringworm|dermatophytosis of scalp and beard	http://purl.obolibrary.org/obo/MONDO_0002967	NCIT:C34536|DOID:4337|UMLS:C0011640|UMLS:C1274426|http://identifiers.org/snomedct/266148000	
MONDO:0002968	biolink:Disease	lymphocele	A cystic lesion containing lymph. It usually results from injury, gynecologic surgery, or urologic surgery.	DOID:4347|MESH:D008210|UMLS:C0024248|ICD9:457.8|SCTID:234110002	mondo.json	lymph cyst	http://purl.obolibrary.org/obo/MONDO_0002968	http://identifiers.org/mesh/D008210|DOID:4347|UMLS:C0024248|http://identifiers.org/snomedct/234110002	
MONDO:0002969	biolink:Disease	ciliary body cancer	A malignant neoplasm involving the ciliary body.	NCIT:C4766|UMLS:C0496833|DOID:4352|SCTID:188263008	mondo.json	malignant neoplasm of the ciliary body|malignant neoplasm of ciliary body|malignant ciliary body tumor|malignant tumor of the ciliary body|malignant ciliary body neoplasm|cancer of ciliary body|tumor of the ciliary body|malignant tumor of ciliary body|ciliary body cancer	http://purl.obolibrary.org/obo/MONDO_0002969	NCIT:C4766|UMLS:C0496833|DOID:4352|http://identifiers.org/snomedct/188263008	
MONDO:0000309	biolink:Disease	aniseikonia	A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other.	ICD9:367.32|DOID:0050304|EFO:1001266|MESH:D000839|SCTID:16059006|ICD10CM:H52.32	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000309	http://purl.bioontology.org/ontology/ICD10CM/H52.32|DOID:0050304|http://identifiers.org/snomedct/16059006|http://identifiers.org/mesh/D000839	
MONDO:0000322	biolink:Disease	obsolete Carrion disease	OBSOLETE. A disease caused by infection with Bartonella bacilliformis.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0000322		
MONDO:0002985	biolink:Disease	obsolete pustulosis of palm and sole			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002985		
MONDO:0000321	biolink:Disease	typhoidal tularemia	A tularemia that results in bacteremia and has symptom fever, has symptom chills, has symptom myalgia, has symptom malaise, and has symptom weight loss.	DOID:0050383|UMLS:C0473876|SCTID:398554008	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000321	DOID:0050383|http://identifiers.org/snomedct/398554008|UMLS:C0473876	
MONDO:0002986	biolink:Disease	obsolete neuromuscular disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002986		
MONDO:0000320	biolink:Disease	glandular tularemia	A tularemia that involves the lymph node.	SCTID:21857006|UMLS:C0275974|DOID:0050382	mondo.json	lymph node tularemia	http://purl.obolibrary.org/obo/MONDO_0000320	DOID:0050382|UMLS:C0275974|http://identifiers.org/snomedct/21857006	
MONDO:0002987	biolink:Disease	spongiotic dermatitis	A chronic inflammatory skin condition characterized by itchiness and a rash in the chest and abdominal areas. It affects males more than females and is usually contracted at a relatively young age. It is thought to be caused by an allergic reaction to food, insect bites, or medication.	UMLS:C0262984|SCTID:23615008|NCIT:C27037|EFO:1000768|ICD9:692.9|DOID:4406	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002987	DOID:4406|NCIT:C27037|UMLS:C0262984|http://identifiers.org/snomedct/23615008	
MONDO:0002988	biolink:Disease	cervix melanoma	An aggressive malignant tumor of melanocytic origin that arises from the cervix.	DOID:4413|UMLS:C0877611|GARD:0009664|NCIT:C40239	mondo.json	melanoma of the cervix|primary malignant melanoma of the cervix uteri|primary malignant melanoma of the uterine cervix|cervical melanoma	http://purl.obolibrary.org/obo/MONDO_0002988	DOID:4413|UMLS:C0877611|NCIT:C40239	gard_rare
MONDO:0002981	biolink:Disease	peripheral primitive neuroectodermal tumor of bone	A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain.	UMLS:C0855009|DOID:4388|NCIT:C8776	mondo.json	peripheral neuroectodermal tumor of bone|peripheral neuroectodermal tumor of the bone|bone peripheral neuroepithelioma|peripheral primitive neuroectodermal tumor of bone tissue|osseous peripheral neuroepithelioma|peripheral primitive neuroectodermal tumor of bone|peripheral neuroepithelioma of bone|peripheral neuroepithelioma of the bone|bone tissue peripheral primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/MONDO_0002981	NCIT:C8776|UMLS:C0855009|DOID:4388	
MONDO:0000326	biolink:Disease	obsolete lissencephaly			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000326		
MONDO:0002982	biolink:Disease	peripheral primitive neuroectodermal tumor of soft tissues	A small round cell tumor with neural differentiation arising from the soft tissues.	DOID:4389|NCIT:C27471|UMLS:C1112437	mondo.json	peripheral neuroepithelioma of soft tissues|peripheral neuroepithelioma of the soft tissues|peripheral neuroectodermal tumor of the soft tissues|peripheral neuroectodermal tumor of soft tissues|soft tissue peripheral neuroepithelioma|peripheral primitive neuroectodermal tumor of soft tissues	http://purl.obolibrary.org/obo/MONDO_0002982	DOID:4389|NCIT:C27471|UMLS:C1112437	
MONDO:0000325	biolink:Disease	obsolete pachyonychia congenita			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000325		
MONDO:0002983	biolink:Disease	obsolete neuromuscular junction disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002983		
MONDO:0000324	biolink:Disease	obsolete familial partial lipodystrophy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000324		
MONDO:0002984	biolink:Disease	reticulohistiocytic granuloma	A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. The lesions are yellow-brown papules affecting any part of the body. Patients are usually adult men. The prognosis is excellent. -- 2003	MESH:D015616|ICD9:277.89|SCTID:404162004|DOID:4394|UMLS:C0035290|GARD:0012967|NCIT:C3356	mondo.json	reticulohistiocytic granuloma (morphologic abnormality)|Reticulohistiocytoma|solitary Reticulohistiocytoma|solitary reticulohistiocytosis|solitary histiocytoma|solitary reticulohistiocytoma	http://purl.obolibrary.org/obo/MONDO_0002984	DOID:4394|http://identifiers.org/snomedct/404162004|UMLS:C0035290|NCIT:C3356	
MONDO:0000323	biolink:Disease	obsolete familial adenomatous polyposis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000323		
MONDO:0014949	biolink:Disease	developmental and epileptic encephalopathy, 47	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene.	OMIM:617166|DOID:0080425|UMLS:C4310685	mondo.json	developmental and epileptic encephalopathy 47|FGF12 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 47|epileptic encephalopathy, early infantile, 47; EIEE47|EIEE47|DEE47|early infantile epileptic encephalopathy caused by mutation in FGF12|epileptic encephalopathy, early infantile, 47	http://purl.obolibrary.org/obo/MONDO_0014949	UMLS:C4310685|https://omim.org/entry/617166|DOID:0080425	
UBERON:0011584	biolink:AnatomicalEntity	zeugopodial skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011584		
MONDO:0014948	biolink:Disease	short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		OMIM:617164|UMLS:C4310686	mondo.json	short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay; SRMMD|short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay|SRMMD	http://purl.obolibrary.org/obo/MONDO_0014948	UMLS:C4310686|https://omim.org/entry/617164	
UBERON:0011583	biolink:AnatomicalEntity	stylopodial skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011583		
MONDO:0014947	biolink:Disease	developmental and epileptic encephalopathy, 46	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene.	OMIM:617162|DOID:0080456|UMLS:C4310687	mondo.json	epileptic encephalopathy, early infantile, type 46|developmental and epileptic encephalopathy 46|epileptic encephalopathy, early infantile, 46; EIEE46|epileptic encephalopathy, early infantile, 46|early infantile epileptic encephalopathy caused by mutation in GRIN2D|GRIN2D early infantile epileptic encephalopathy|EIEE46|DEE46	http://purl.obolibrary.org/obo/MONDO_0014947	UMLS:C4310687|https://omim.org/entry/617162|DOID:0080456	
UBERON:0011582	biolink:AnatomicalEntity	paired limb/fin skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011582		
MONDO:0014946	biolink:Disease	Sifrim-Hitz-Weiss syndrome		UMLS:C4310688|OMIM:617159	mondo.json	Sifrim-Hitz-Weiss syndrome|Sifrim-Hitz-Weiss syndrome; SIHIWES|Sifrim-Hitz-Weiss multiple congenital anomalies-mental retardation syndrome|Sifrim-Hitz-Weiss multiple congenital anomalies-intellectual disability syndrome|SIHIWES	http://purl.obolibrary.org/obo/MONDO_0014946	UMLS:C4310688|https://omim.org/entry/617159	
MONDO:0002980	biolink:Disease	obsolete myofibroma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002980		
NCBITaxon:4827	biolink:OrganismalEntity	Mucorales		PMID:12684019|PMID:17051209|GC_ID:1|PMID:17486964|PMID:14715234|PMID:17572334	mondo.json	pin molds	http://purl.obolibrary.org/obo/NCBITaxon_4827		
UBERON:0011588	biolink:AnatomicalEntity	pre-enamel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011588		
UBERON:0011587	biolink:AnatomicalEntity	pre-dentine			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011587		
UBERON:0011585	biolink:AnatomicalEntity	cell condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011585		
MONDO:0014952	biolink:Disease	intellectual disability-epilepsy-extrapyramidal syndrome		OMIM:617171|UMLS:C4310683|Orphanet:468620	mondo.json	neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures|DYSEIDD|dyskinesia, seizures, and intellectual developmental disorder	http://purl.obolibrary.org/obo/MONDO_0014952	UMLS:C4310683|https://omim.org/entry/617171|Orphanet:468620	ordo_disease
MONDO:0014951	biolink:Disease	Sotos syndrome 3	Any Sotos syndrome in which the cause of the disease is a mutation in the APC2 gene.	UMLS:C4310684|OMIM:617169	mondo.json	Sotos syndrome caused by mutation in APC2|SOTOS3|Sotos syndrome type 3|Sotos syndrome 3|intellectual developmental disorder, autosomal recessive 74|APC2 Sotos syndrome	http://purl.obolibrary.org/obo/MONDO_0014951	https://omim.org/entry/617169|UMLS:C4310684	
MONDO:0014950	biolink:Disease	aortic aneurysm, familial thoracic 10	Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene.	OMIM:617168|UMLS:C4284414	mondo.json	LOX familial thoracic aortic aneurysm and aortic dissection|AAT10|familial thoracic aortic aneurysm and aortic dissection caused by mutation in LOX|aortic aneurysm, familial thoracic type 10|aortic aneurysm, familial thoracic 10	http://purl.obolibrary.org/obo/MONDO_0014950	https://omim.org/entry/617168|UMLS:C4284414	
MONDO:0014956	biolink:Disease	Chitayat syndrome		UMLS:C4310679|OMIM:617180	mondo.json	Chitayat syndrome|CHYTS|Chitayat syndrome; CHYTS	http://purl.obolibrary.org/obo/MONDO_0014956	UMLS:C4310679|https://omim.org/entry/617180	
MONDO:0014955	biolink:Disease	RCBTB1-related retinopathy		UMLS:C4310680|OMIM:617175	mondo.json	RCBTB1-related retinopathy|RDEOA|retinal dystrophy with or without extraocular anomalies	http://purl.obolibrary.org/obo/MONDO_0014955	UMLS:C4310680|https://omim.org/entry/617175	
MONDO:0014954	biolink:Disease	Ehlers-Danlos syndrome, periodontal type 2		OMIM:617174	mondo.json	Ehlers-Danlos syndrome, periodontal type, 2|EDSPD2	http://purl.obolibrary.org/obo/MONDO_0014954	https://omim.org/entry/617174	
MONDO:0014953	biolink:Disease	gnb5-related intellectual disability-cardiac arrhythmia syndrome		Orphanet:542306|UMLS:C4310682|OMIM:617173	mondo.json	intellectual developmental disorder with cardiac arrhythmia|intellectual developmental disorder with cardiac arrhythmia; IDDCA|IDDCA	http://purl.obolibrary.org/obo/MONDO_0014953	UMLS:C4310682|https://omim.org/entry/617173|Orphanet:542306	ordo_disease
MONDO:0000319	biolink:Disease	obsolete infant botulism			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000319		
HP:0011767	biolink:PhenotypicFeature	Abnormality of the parathyroid physiology	A functional abnormality of the parathyroid gland.	UMLS:C4023198	mondo.json	Parathyroid dysfunction|Parathyroid issue	http://purl.obolibrary.org/obo/HP_0011767		
HGNC:6481	biolink:NamedThing	LAMA1			mondo.json		http://identifiers.org/hgnc/6481		
MONDO:0000318	biolink:Disease	obsolete wound botulism			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000318		
MONDO:0000317	biolink:Disease	obsolete foodborne botulism			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000317		
HGNC:6482	biolink:NamedThing	LAMA2			mondo.json		http://identifiers.org/hgnc/6482		
MONDO:0000316	biolink:Disease	opportunistic bacterial infectious disease		DOID:0050340	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000316	DOID:0050340	
HGNC:6483	biolink:NamedThing	LAMA3			mondo.json		http://identifiers.org/hgnc/6483		
MONDO:0002978	biolink:Disease	orbit alveolar rhabdomyosarcoma	A malignant mesenchymal neoplasm that arises in the orbit. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma.	UMLS:C1335126|NCIT:C6247|DOID:4384	mondo.json	alveolar rhabdomyosarcoma of orbit|alveolar rhabdomyosarcoma of the orbit	http://purl.obolibrary.org/obo/MONDO_0002978	DOID:4384|NCIT:C6247|UMLS:C1335126	
HGNC:6484	biolink:NamedThing	LAMA4			mondo.json		http://identifiers.org/hgnc/6484		
MONDO:0002979	biolink:Disease	papillary squamous carcinoma	A well differentiated squamous cell carcinoma characterized by a papillary, exophytic growth pattern and hyperkeratosis. The most commonly affected anatomic sites are the larynx, penis, cervix, vagina, and vulva.	NCIT:C4102|UMLS:C0334244|DOID:4385|ICDO:8052/3	mondo.json	papillary epidermoid carcinoma|papillary squamous carcinoma|papillary squamous cell carcinoma|papillary epidermoid cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002979	DOID:4385|NCIT:C4102|UMLS:C0334244	
HGNC:6485	biolink:NamedThing	LAMA5			mondo.json		http://identifiers.org/hgnc/6485		
HGNC:6486	biolink:NamedThing	LAMB1			mondo.json		http://identifiers.org/hgnc/6486		
HGNC:6487	biolink:NamedThing	LAMB2			mondo.json		http://identifiers.org/hgnc/6487		
MONDO:0002952	biolink:Disease	follicular basal cell carcinoma		SCTID:402526009|UMLS:C1883723|DOID:4295|NCIT:C27538	mondo.json	follicular (pilar) basal cell carcinoma|skin follicular basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002952	http://identifiers.org/snomedct/402526009|DOID:4295|NCIT:C27538|UMLS:C1883723	
MONDO:0002953	biolink:Disease	skin infiltrative basal cell carcinoma	A variant of basal cell carcinoma presenting as a pale, indurated plaque, usually in the upper trunk or face. Morphologically, it is characterized by the presence of strands, cords, and columns of basaloid cells infiltrating the dermis. Perineural invasion may be present and the basaloid cell infiltrate may extend into deeper tissues.	UMLS:C0334257|ICDO:8092/3|DOID:4299|NCIT:C27539	mondo.json	infiltrating basal cell carcinoma|infiltrative basal cell carcinoma|skin infiltrating basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002953	DOID:4299|NCIT:C27539|UMLS:C0334257	
MONDO:0002954	biolink:Disease	superficial multifocal basal cell carcinoma	A superficial basal cell carcinoma of the skin characterized by the presence of lobules of basaloid cells which are separated by large distances and represent multifocal discrete tumors.	UMLS:C0334256|DOID:4300|ICDO:8091/3|NCIT:C4108|SCTID:403914000	mondo.json	multifocal superficial basal cell carcinoma|superficial multicentric basal-cell carcinoma|superficial basal cell carcinoma|multifocal superficial basal cell carcinoma (morphologic abnormality)|superficial multifocal basal cell carcinoma|multicentric basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002954	DOID:4300|NCIT:C4108|http://identifiers.org/snomedct/403914000|UMLS:C0334256	
MONDO:0002955	biolink:Disease	vulva basal cell carcinoma	A slow growing, locally infiltrating carcinoma that arises from the vulva. It is characterized by the presence of malignant cells that resemble the basal cells that are present in the epidermis.	Orphanet:494451|DOID:4301|NCIT:C6381|UMLS:C1336977|SCTID:717731002	mondo.json	skin basal cell carcinoma of mammalian vulva|basal cell carcinoma of the vulva|basal cell carcinoma of vulva|vulvar basal cell carcinoma|vulvar basal cell cancer|mammalian vulva skin basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002955	UMLS:C1336977|http://identifiers.org/snomedct/717731002|DOID:4301|Orphanet:494451|NCIT:C6381	
MONDO:0002950	biolink:Disease	skin clear cell basal cell carcinoma	A morphologic variant of basal cell carcinoma characterized by the presence of clear cells.	NCIT:C27536|UMLS:C1516599|DOID:4293	mondo.json	skin clear cell basal cell carcinoma|clear cell basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002950	DOID:4293|NCIT:C27536|UMLS:C1516599	
MONDO:0002951	biolink:Disease	skin adenoid basal cell carcinoma	A variant of basal cell carcinoma morphologically characterized by the presence of thin strands of basaloid cells forming a reticulate pattern.	SCTID:402525008|NCIT:C27535|ICDO:8098/3|DOID:4294	mondo.json	adenoid basal cell carcinoma|skin adenoid basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002951	DOID:4294|http://identifiers.org/snomedct/402525008|NCIT:C27535	
HGNC:6490	biolink:NamedThing	LAMB3			mondo.json		http://identifiers.org/hgnc/6490		
MONDO:0014938	biolink:Disease	aniridia 3	Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene.	OMIM:617142	mondo.json	aniridia 3; AN3|aniridia 3|TRIM44 isolated aniridia|aniridia type 3|isolated aniridia caused by mutation in TRIM44|AN3	http://purl.obolibrary.org/obo/MONDO_0014938	https://omim.org/entry/617142	
MONDO:0014937	biolink:Disease	aniridia 2		MESH:C536372|OMIM:617141|SCTID:253232000	mondo.json	AN2|aniridia 2; AN2|aniridia 2|aniridia type 2	http://purl.obolibrary.org/obo/MONDO_0014937	http://identifiers.org/snomedct/253232000|https://omim.org/entry/617141|http://identifiers.org/mesh/C536372	
MONDO:0014936	biolink:Disease	ZTTK syndrome		OMIM:617140|UMLS:C4310696|Orphanet:500150	mondo.json	brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome|Tokita-Kim syndrome|TOKIMS|ZTTK multiple congenital anomalies-intellectual disability syndrome|ZTTKS|ZTTK multiple congenital anomalies-mental retardation syndrome|Zhu-Tokita-Takenouchi-Kim syndrome|ZTTK syndrome	http://purl.obolibrary.org/obo/MONDO_0014936	UMLS:C4310696|https://omim.org/entry/617140|Orphanet:500150	ordo_malformation_syndrome
MONDO:0014935	biolink:Disease	frontometaphyseal dysplasia 2	Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene.	UMLS:C4310697|OMIM:617137|DOID:0111787	mondo.json	MAP3K7 frontometaphyseal dysplasia|frontometaphyseal dysplasia caused by mutation in MAP3K7|frontometaphyseal dysplasia 2; FMD2|FMD2|Frontometaphyseal dysplasia 2|Frontometaphyseal dysplasia type 2	http://purl.obolibrary.org/obo/MONDO_0014935	UMLS:C4310697|https://omim.org/entry/617137|DOID:0111787	
CHEBI:63510	biolink:ChemicalSubstance	EC 3.6.3.9 (Na(+)/K(+)-transporting ATPase) inhibitor	An EC 3.6.3.* (acid anhydride hydrolase catalysing transmembrane movement of substances) inhibitor that interferes with the action of  Na(+)/K(+)-transporting ATPase (EC 3.6.3.9).		mondo.json	Na(+)/K(+)-ATPase inhibitors|Na(+)/K(+)-transporting ATPase (EC 3.6.3.9) inhibitor|Na(+)/K(+)-pump inhibitors|sodium pump inhibitors|sodium-potassium adenosine triphosphatase inhibitor|sodium-potassium adenosine triphosphatase inhibitors|sodium pump inhibitor|Na(+)/K(+)-transporting ATPase (EC 3.6.3.9) inhibitors|Na(+)/K(+)-pump inhibitor|EC 3.6.3.9 (Na(+)/K(+)-transporting ATPase) inhibitors|Na(+)/K(+)-ATPase inhibitor|EC 3.6.3.9 inhibitor|Na(+)/K(+)-transporting ATPase inhibitors|sodium-potassium pump inhibitors|Na(+)/K(+)-transporting ATPase inhibitor|sodium-potassium pump inhibitor|EC 3.6.3.9 inhibitors	http://purl.obolibrary.org/obo/CHEBI_63510		
MONDO:0014939	biolink:Disease	congenital myasthenic syndrome 20	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene.	DOID:0110661|OMIM:617143|UMLS:C4310694	mondo.json	congenital myasthenic syndrome caused by mutation in SLC5A7|myasthenic syndrome, congenital, 20, presynaptic|congenital myasthenic syndrome type 20|CMS20|congenital myasthenic syndrome 20 presynaptic|SLC5A7 congenital myasthenic syndrome	http://purl.obolibrary.org/obo/MONDO_0014939	UMLS:C4310694|https://omim.org/entry/617143|DOID:0110661	
HP:0033100	biolink:PhenotypicFeature	Increased proteinogenic amino acid level in urine	An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.		mondo.json		http://purl.obolibrary.org/obo/HP_0033100		
UBERON:0011574	biolink:AnatomicalEntity	mesonephric duct lumen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011574		
MONDO:0014941	biolink:Disease	arthrogryposis, distal, with impaired proprioception and touch		UMLS:C4310692|OMIM:617146	mondo.json	arthrogryposis, distal, with impaired proprioception and touch; DAIPT|arthrogryposis, distal, with impaired proprioception and touch|DAIPT	http://purl.obolibrary.org/obo/MONDO_0014941	UMLS:C4310692|https://omim.org/entry/617146	
MONDO:0014940	biolink:Disease	neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset		UMLS:C4310693|OMIM:617145	mondo.json	NADGP|neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; NADGP|neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	http://purl.obolibrary.org/obo/MONDO_0014940	UMLS:C4310693|https://omim.org/entry/617145	
CHR:9606-chr17q24	biolink:NamedThing	17q24 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr17q24		
CHEBI:38500	biolink:ChemicalSubstance	EC 1.9.3.1 (cytochrome c oxidase) inhibitor	An EC 1.9.3.* (oxidoreductase acting on donor heme group, oxygen as acceptor) inhibitor that interferes with the action of cytochrome c oxidase (EC 1.9.3.1).		mondo.json	cytochrome aa3 inhibitors|cytochrome-c oxidase inhibitor|CcO inhibitor|cytochrome-c oxidase inhibitors|cytochrome aa3 inhibitor|ferrocytochrome c oxidase inhibitor|mitochondrial complex IV inhibitors|cytochrome c oxidase (EC 1.9.3.1) inhibitors|EC 1.9.3.1 (cytochrome c oxidase) inhibitors|cytochrome c oxidase inhibitor|EC 1.9.3.1 inhibitors|indophenol oxidase inhibitor|complex IV (mitochondrial electron transport) inhibitors|Warburg's respiratory enzyme inhibitor|indophenolase inhibitors|ferrocytochrome-c:oxygen oxidoreductase inhibitor|mitochondrial cytochrome-c oxidase inhibitors|cytochrome oxidase inhibitor|NADH cytochrome c oxidase inhibitors|cytochrome a3 inhibitors|cytochrome a3 inhibitor|NADH cytochrome c oxidase inhibitor|cytochrome oxidase inhibitors|indophenolase inhibitor|ferrocytochrome-c:oxygen oxidoreductase inhibitors|Warburg's respiratory enzyme inhibitors|complex IV (mitochondrial electron transport) inhibitor|cytochrome c oxidase (EC 1.9.3.1) inhibitor|ferrocytochrome c oxidase inhibitors|mitochondrial complex IV inhibitor|cytochrome c oxidase inhibitors|indophenol oxidase inhibitors|EC 1.9.3.1 inhibitor	http://purl.obolibrary.org/obo/CHEBI_38500		
MONDO:0014945	biolink:Disease	myopathy, distal, with rimmed vacuoles		OMIM:617158|UMLS:CN239822	mondo.json	myopathy, distal, with rimmed vacuoles|myopathy, distal, with rimmed vacuoles; DMRV|DMRV	http://purl.obolibrary.org/obo/MONDO_0014945	https://omim.org/entry/617158|UMLS:CN239822	
HP:0033107	biolink:PhenotypicFeature	Abnormal circulating proteinogenic amino acid concentration	An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.		mondo.json		http://purl.obolibrary.org/obo/HP_0033107		
MONDO:0014944	biolink:Disease	short stature-brachydactyly-obesity-global developmental delay syndrome		UMLS:C4310689|Orphanet:464288|OMIM:617157	mondo.json	SBIDDS|short stature, brachydactyly, intellectual developmental disability, and seizures	http://purl.obolibrary.org/obo/MONDO_0014944	UMLS:C4310689|https://omim.org/entry/617157|Orphanet:464288	ordo_malformation_syndrome
MONDO:0014943	biolink:Disease	mitochondrial DNA depletion syndrome 15 (hepatocerebral type);	Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene.	DOID:0080337|UMLS:C4310690|OMIM:617156	mondo.json	mitochondrial DNA depletion syndrome caused by mutation in TFAM|TFAM mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome 15 (hepatocerebral type)|MTDPS15	http://purl.obolibrary.org/obo/MONDO_0014943	UMLS:C4310690|DOID:0080337|https://omim.org/entry/617156	
MONDO:0014942	biolink:Disease	developmental and epileptic encephalopathy, 45	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene.	OMIM:617153|UMLS:C4310691|DOID:0080428	mondo.json	developmental and epileptic encephalopathy 45|early infantile epileptic encephalopathy caused by mutation in GABRB1|GABRB1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 45|epileptic encephalopathy, early infantile, 45; EIEE45|EIEE45|DEE45|epileptic encephalopathy, early infantile, 45	http://purl.obolibrary.org/obo/MONDO_0014942	UMLS:C4310691|DOID:0080428|https://omim.org/entry/617153	
NCBITaxon:157540	biolink:OrganismalEntity	Zygodontomys		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_157540		
MONDO:0002949	biolink:Disease	morpheaform basal cell carcinoma	A histologic variant of basal cell carcinoma of the skin characterized by the presence of strands and nests of malignant cells that are embedded in a dense fibrotic stroma.	DOID:4292|UMLS:C0555191|NCIT:C27182|SCTID:403913006	mondo.json	basal cell carcinoma, morphea|morphea-type basal cell carcinoma|morphea-type (sclerosing) basal cell carcinoma|sclerosing type basal cell carcinoma|skin morphea-type (sclerosing) basal cell carcinoma|morpheaform basal cell carcinoma|cicatricial basal-cell carcinoma|basal cell carcinoma sclerosing type	http://purl.obolibrary.org/obo/MONDO_0002949	http://identifiers.org/snomedct/403913006|UMLS:C0555191|DOID:4292|NCIT:C27182	
HGNC:6493	biolink:NamedThing	LAMC2			mondo.json		http://identifiers.org/hgnc/6493		
HGNC:6494	biolink:NamedThing	LAMC3			mondo.json		http://identifiers.org/hgnc/6494		
MONDO:0002945	biolink:Disease	micronodular basal cell carcinoma	A basal cell carcinoma of the skin characterized by the presence of small nodules that permeate the dermis. It presents as an elevated or flat infiltrating tumor, usually in the back.	UMLS:C1367861|NCIT:C27541|DOID:4289|SCTID:402529002	mondo.json	skin micronodular basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002945	http://identifiers.org/snomedct/402529002|DOID:4289|NCIT:C27541|UMLS:C1367861	
MONDO:0002946	biolink:Disease	gynatresia	A congenital or acquired occlusion of an opening in any part of the female genital tract.	EFO:1001335|NCIT:C84743|DOID:429|MESH:D006175|UMLS:C0018414	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002946	NCIT:C84743|DOID:429|http://identifiers.org/mesh/D006175|UMLS:C0018414	
MONDO:0002947	biolink:Disease	adamantinoid basal cell epithelioma		NCIT:C7585|DOID:4290|UMLS:C1304295|SCTID:402524007	mondo.json	basal cell carcinoma - adamantinoid|melanotic adamantinoma of skin|adamantinoid basal cell carcinoma|skin adamantinoid basal cell carcinoma|skin adamantinoid basal cell epithelioma	http://purl.obolibrary.org/obo/MONDO_0002947	UMLS:C1304295|DOID:4290|http://identifiers.org/snomedct/402524007|NCIT:C7585	
MONDO:0002948	biolink:Disease	skin fibroepithelial basal cell carcinoma	A variant of basal cell carcinoma presenting as an elevated or erythematous nodular lesion usually in the back. Morphologically, it is characterized by the presence of cords of basaloid cells extending from the epidermis into the dermis, creating a fenestrating pattern. It follows an indolent course.	SCTID:254703005|DOID:4291|NCIT:C4109|ICDO:8093/3|UMLS:C0346013	mondo.json	Pinkus tumor|fibroepithelioma of Pinkus|fibroepithelial basal cell carcinoma|fibroepithelioma of Pinkus type	http://purl.obolibrary.org/obo/MONDO_0002948	NCIT:C4109|UMLS:C0346013|http://identifiers.org/snomedct/254703005|DOID:4291	
CHR:9606-chr17q21	biolink:NamedThing	17q21 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr17q21		
CHEBI:26536	biolink:ChemicalSubstance	retinoic acid	A retinoid consisting of 3,7-dimethylnona-2,4,6,8-tetraenoic acid substituted at position 9 by a 2,6,6-trimethylcyclohex-1-en-1-yl group (geometry of the four exocyclic double bonds is not specified).		mondo.json	3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid	http://purl.obolibrary.org/obo/CHEBI_26536		
MONDO:0002963	biolink:Disease	acantholytic acanthoma	A benign epithelial neoplasm of the skin. It presents as a papular or nodular lesion. Morphologically, it is characterized by the presence of hyperkeratosis, acanthosis, papillomatosis, and prominent acantholysis.	DOID:4324|UMLS:C1301270|NCIT:C27517	mondo.json	acantholytic acanthoma	http://purl.obolibrary.org/obo/MONDO_0002963	DOID:4324|UMLS:C1301270|NCIT:C27517	
MONDO:0000300	biolink:Disease	obsolete tungiasis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000300		
CHEBI:26537	biolink:ChemicalSubstance	retinoid	Oxygenated derivatives of 3,7-dimethyl-1-(2,6,6-trimethylcyclohex-1-enyl)nona-1,3,5,7-tetraene and derivatives thereof.		mondo.json	retinoid|retinoids|retinoids	http://purl.obolibrary.org/obo/CHEBI_26537		
MONDO:0002964	biolink:Disease	obsolete non-Langerhans-cell histiocytosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002964		
MONDO:0002965	biolink:Disease	parovarian cyst	A cyst (cysts) near the ovary, derived from anomalies of the fallopian tubes or the broad ligament. The paramesonephric type consists of ciliated cells similar to the oviduct epithelium. The mesonephric type consisted of an epithelium with minimally surface structures. They can be found on the thin oviduct (paratubal cysts) or near its fimbriated end (hydatid of Morgagni).	DOID:4333|UMLS:C0030584|SCTID:64233004|MESH:D010310	mondo.json	hydatid of Morgagni|cyst, fimbrial|cyst, Paratubal|Morgagni hydatid cyst|cysts, parovarian|cysts, Paratubal|Paratubal cyst|Morgagni Hydatids|Morgagni hydatid|parovarian cysts|cyst, parovarian|Paratubal cysts|parovarian cyst|hydatid cyst of Morgagni|fimbrial cyst|Morgagni hydatid cysts|embryonic fimbrial cyst	http://purl.obolibrary.org/obo/MONDO_0002965	UMLS:C0030584|DOID:4333|http://identifiers.org/mesh/D010310|http://identifiers.org/snomedct/64233004	
MONDO:0002966	biolink:Disease	splenic manifestation of prolymphocytic leukemia	A prolymphocytic leukemia that involves the spleen.	NCIT:C7297|DOID:4334|UMLS:C1336066	mondo.json	prolymphocytic leukemia of spleen|splenic manifestation of prolymphocytic leukemia|spleen prolymphocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0002966	DOID:4334|NCIT:C7297|UMLS:C1336066	
MONDO:0000304	biolink:Disease	penicilliosis	A disease caused by infection with Talaromyces marneffei.	SCTID:372936000|DOID:0050288|UMLS:C1274008|SCTID:713315007	mondo.json	Talaromyces marneffei infectious disease|Talaromyces marneffei caused disease or disorder|infection caused by Penicillium marneffei|Penicillium marneffei infectious disease|infection caused by Talaromyces marneffei|Talaromyces marneffei disease or disorder|infection due to Penicillium marneffei	http://purl.obolibrary.org/obo/MONDO_0000304	DOID:0050288|http://identifiers.org/snomedct/713315007|http://identifiers.org/snomedct/372936000|UMLS:C1274008	
MONDO:0002960	biolink:Disease	polyradiculopathy	A radiculopathy that is present in more than one nerve.	UMLS:C0032586|MESH:D011128|ICD9:356.9|DOID:4307|SCTID:75572007|NCIT:C34934	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002960	DOID:4307|http://identifiers.org/mesh/D011128|NCIT:C34934|http://identifiers.org/snomedct/75572007|UMLS:C0032586	
MONDO:0000303	biolink:Disease	conidiobolomycosis		ICD9:111.8|SCTID:240783007|DOID:0050279|UMLS:C0276712	mondo.json	infection by Conidiobolus|rhinoentomophthoromycosis|Conidiobolus infectious disease	http://purl.obolibrary.org/obo/MONDO_0000303	DOID:0050279|UMLS:C0276712|http://identifiers.org/snomedct/240783007	
MONDO:0000302	biolink:Disease	basidiobolomycosis	A disease caused by infection with Basidiobolus.	MEDGEN:575966|SCTID:4921002|DOID:0050278|UMLS:C0343965	mondo.json	basidiobolomycosis|Basidiobolus disease or disorder|Basidiobolus infectious disease|infection caused by Basidiobolus|Basidiobolus caused disease or disorder|infection by Basidiobolus	http://purl.obolibrary.org/obo/MONDO_0000302	DOID:0050278|UMLS:C0343965|http://identifiers.org/snomedct/4921002	
MONDO:0002961	biolink:Disease	large cell acanthoma		DOID:4321|NCIT:C27518|UMLS:C1334362	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002961	DOID:4321|NCIT:C27518|UMLS:C1334362	
MONDO:0002962	biolink:Disease	epidermolytic acanthoma	A benign epithelial verrucous lesion of the skin. Morphologically, it is characterized by the presence of epidermolytic hyperkeratosis and papillomatosis.	DOID:4323|UMLS:C1333414|NCIT:C27516	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002962	UMLS:C1333414|DOID:4323|NCIT:C27516	
MONDO:0000301	biolink:Disease	ophthalmomyiasis	An myiasis caused by infection with Oestrus ovis.	DOID:0050268|UMLS:C0027034|SCTID:48216006	mondo.json	ophthalmomyiasis|Oestrus ovis myiasis|Oestrus ovis caused myiasis|ophthalmic myiasis	http://purl.obolibrary.org/obo/MONDO_0000301	DOID:0050268|http://identifiers.org/snomedct/48216006|UMLS:C0027034	
MONDO:0014927	biolink:Disease	Joubert syndrome 27	Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene.	UMLS:C4310706|OMIM:617120|DOID:0110996	mondo.json	B9D1 Joubert syndrome|Joubert syndrome caused by mutation in B9D1|Joubert syndrome 27|Joubert syndrome type 27|JBTS27	http://purl.obolibrary.org/obo/MONDO_0014927	DOID:0110996|UMLS:C4310706|https://omim.org/entry/617120	
NCBITaxon:157541	biolink:OrganismalEntity	Zygodontomys brevicauda		GC_ID:1	mondo.json	Oryzomys brevicauda	http://purl.obolibrary.org/obo/NCBITaxon_157541		
MONDO:0014926	biolink:Disease	Bardet-Biedl syndrome 22	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene.	UMLS:C4310707|OMIM:617119	mondo.json	IFT74 Bardet-Biedl syndrome|Bardet-Biedl syndrome 20; BBS20|Bardet-Biedl syndrome caused by mutation in IFT74|BBS20|Bardet-Biedl syndrome type 20	http://purl.obolibrary.org/obo/MONDO_0014926	UMLS:C4310707|https://omim.org/entry/617119	
MONDO:0014925	biolink:Disease	epilepsy, familial focal, with variable foci 3	Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene.	OMIM:617118|UMLS:C4310708	mondo.json	epilepsy, familial focal, with variable foci type 3|epilepsy, familial focal, with variable foci 3; FFEVF3|NPRL3 epilepsy, familial focal, with variable foci|epilepsy, familial focal, with variable foci 3|epilepsy, familial focal, with variable foci caused by mutation in NPRL3|FFEVF3	http://purl.obolibrary.org/obo/MONDO_0014925	UMLS:C4310708|https://omim.org/entry/617118	
UBERON:0035597	biolink:AnatomicalEntity	profundal placode			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035597		
MONDO:0014924	biolink:Disease	epilepsy, familial focal, with variable foci 2	Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene.	UMLS:C4310709|OMIM:617116	mondo.json	FFEVF2|epilepsy, familial focal, with variable foci 2; FFEVF2|epilepsy, familial focal, with variable foci 2|epilepsy, familial focal, with variable foci caused by mutation in NPRL2|epilepsy, familial focal, with variable foci type 2|NPRL2 epilepsy, familial focal, with variable foci	http://purl.obolibrary.org/obo/MONDO_0014924	UMLS:C4310709|https://omim.org/entry/617116	
UBERON:0011566	biolink:AnatomicalEntity	lumen of esophagus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011566		
UBERON:0011565	biolink:AnatomicalEntity	lumen of gastrointestinal system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011565		
MONDO:0014929	biolink:Disease	retinitis pigmentosa 76	Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene.	UMLS:C4310704|OMIM:617123	mondo.json	retinitis pigmentosa 76; RP76|RP76|retinitis pigmentosa type 76|retinitis pigmentosa caused by mutation in POMGNT1|POMGNT1 retinitis pigmentosa|retinitis pigmentosa 76	http://purl.obolibrary.org/obo/MONDO_0014929	UMLS:C4310704|https://omim.org/entry/617123	
MONDO:0014928	biolink:Disease	Joubert syndrome 28	Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene.	UMLS:C4310705|OMIM:617121|DOID:0110997	mondo.json	Joubert syndrome caused by mutation in MKS1|Joubert syndrome 28|Joubert syndrome type 28|JBTS28|MKS1 Joubert syndrome	http://purl.obolibrary.org/obo/MONDO_0014928	DOID:0110997|UMLS:C4310705|https://omim.org/entry/617121	
MONDO:0014930	biolink:Disease	intellectual disability, autosomal recessive 56	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene.	OMIM:617125|UMLS:C4310703	mondo.json	intellectual disability, autosomal recessive 56|mental retardation, autosomal recessive 56|autosomal recessive non-syndromic intellectual disability caused by mutation in ZC3H14|intellectual disability, autosomal recessive type 56|MRT56|mental retardation, autosomal recessive type 56|ZC3H14 autosomal recessive non-syndromic intellectual disability|intellectual developmental disorder, autosomal recessive 56	http://purl.obolibrary.org/obo/MONDO_0014930	UMLS:C4310703|https://omim.org/entry/617125	
MONDO:0014934	biolink:Disease	spinocerebellar ataxia, autosomal recessive 24	Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene.	OMIM:617133|UMLS:C4310699|DOID:0111615	mondo.json	UBA5 autosomal dominant cerebellar ataxia|spinocerebellar ataxia, autosomal recessive 24|spinocerebellar ataxia, autosomal recessive type 24|autosomal dominant cerebellar ataxia caused by mutation in UBA5|spinocerebellar ataxia, autosomal recessive 24; SCAR24|SCAR24	http://purl.obolibrary.org/obo/MONDO_0014934	UMLS:C4310699|https://omim.org/entry/617133|DOID:0111615	
MONDO:0014933	biolink:Disease	developmental and epileptic encephalopathy, 44	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene.	OMIM:617132|DOID:0080424|UMLS:C4310700	mondo.json	epileptic encephalopathy, early infantile, 44|developmental and epileptic encephalopathy 44|epileptic encephalopathy, early infantile, type 44|UBA5 early infantile epileptic encephalopathy|early infantile epileptic encephalopathy caused by mutation in UBA5|DEE44|EIEE44|epileptic encephalopathy, early infantile, 44; EIEE44	http://purl.obolibrary.org/obo/MONDO_0014933	UMLS:C4310700|https://omim.org/entry/617132|DOID:0080424	
MONDO:0014932	biolink:Disease	orofaciodigital syndrome XV		UMLS:C4310701|OMIM:617127	mondo.json	oral-Facial-digital syndrome, type 15|orofaciodigital syndrome type XV|orofaciodigital syndrome 15|orofaciodigital syndrome XV|OFD15|Ofds 15	http://purl.obolibrary.org/obo/MONDO_0014932	UMLS:C4310701|https://omim.org/entry/617127	
MONDO:0014931	biolink:Disease	Alazami-Yuan syndrome		UMLS:C4310702|OMIM:617126	mondo.json	Alazami-Yuan syndrome|Alazami-Yuan syndrome; ALYUS|ALYUS	http://purl.obolibrary.org/obo/MONDO_0014931	UMLS:C4310702|https://omim.org/entry/617126	
HP:0011747	biolink:PhenotypicFeature	Abnormality of the anterior pituitary	An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.	SNOMEDCT_US:399244003|UMLS:C0032002|MSH:D010900|UMLS:C4023206	mondo.json	Pituitary disease	http://purl.obolibrary.org/obo/HP_0011747		
MONDO:0002956	biolink:Disease	skin cystic basal cell carcinoma		NCIT:C27537|UMLS:C1275193|DOID:4302|SCTID:403912001	mondo.json	cystic basal cell carcinoma|skin cystic basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002956	http://identifiers.org/snomedct/403912001|DOID:4302|UMLS:C1275193|NCIT:C27537	
MONDO:0002957	biolink:Disease	sarcomatoid basal cell carcinoma		NCIT:C38111|DOID:4303|UMLS:C1519182	mondo.json	skin sarcomatoid basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002957	DOID:4303|UMLS:C1519182|NCIT:C38111	
MONDO:0002958	biolink:Disease	signet ring basal cell carcinoma		UMLS:C1519320|NCIT:C38110|DOID:4304	mondo.json	signet Ring cell basal cell carcinoma|skin signet Ring cell basal cell carcinoma|skin signet ring cell basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002958	DOID:4304|UMLS:C1519320|NCIT:C38110	
MONDO:0002959	biolink:Disease	radiculopathy	Disease involving a spinal nerve root (see spinal nerve roots) which may result from compression related to intervertebral disk displacement; spinal cord injuries; spinal diseases; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root.	UMLS:C0700594|DOID:4306|MESH:D011843|SCTID:72274001|ICD10CM:M54.1	mondo.json	nerve root disorder	http://purl.obolibrary.org/obo/MONDO_0002959	http://identifiers.org/snomedct/72274001|http://purl.bioontology.org/ontology/ICD10CM/M54.1|UMLS:C0700594|DOID:4306|http://identifiers.org/mesh/D011843	
MONDO:0000355	biolink:Disease	Ullrich congenital muscular dystrophy	Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.	UMLS:C0410179|Orphanet:75840|MESH:C537521|NCIT:C123438|OMIMPS:254090|SCTID:240062007|DOID:0050558|GARD:0004769	mondo.json	scleroatonic muscular dystrophy|Ullrich disease|late onset scleroatonic familial myopathy (subtype)|UCMD|Ullrich scleroatonic muscular dystrophy|scleroatonic Ullrich disease|congenital muscular dystrophy, Ullrich type	http://purl.obolibrary.org/obo/MONDO_0000355	http://identifiers.org/snomedct/240062007|NCIT:C123438|UMLS:C0410179|Orphanet:75840|https://omim.org/phenotypicSeries/PS254090|http://identifiers.org/mesh/C537521|DOID:0050558	ordo_disease|gard_rare
MONDO:0024322	biolink:Disease	disorder of glycosylation	A disease that has its basis in the disruption of glycosylation.		mondo.json	glycosylation disease|disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0024322		
MONDO:0024321	biolink:Disease	disorder of GPI anchor biosynthesis	A disease that has its basis in the disruption of GPI anchor biosynthetic process.		mondo.json	GPI anchor biosynthetic process disease|GPIBD|glycosylphosphatidylinositol biosynthesis defect|disorder of GPI anchor biosynthetic process	http://purl.obolibrary.org/obo/MONDO_0024321		
NCBITaxon:4857	biolink:OrganismalEntity	Entomophthorales		PMID:17572334|PMID:17051209|GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_4857		
MONDO:0000354	biolink:Disease	obsolete JMP syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000354		
MONDO:0000353	biolink:Disease	obsolete Saldino-Noonan syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000353		
MONDO:0024323	biolink:Disease	glomangiomyoma	A morphologic variant of the glomus tumor with architectural features similar to solid glomus tumor. It is characterized by the presence of elongated glomus cells which resemble mature smooth muscle.	NCIT:C4223|UMLS:C0334422|DOID:8020|ICDO:8713/0	mondo.json	glomangiomyoma	http://purl.obolibrary.org/obo/MONDO_0024323	DOID:8020|NCIT:C4223|UMLS:C0334422	
MONDO:0000352	biolink:Disease	obsolete hereditary sensory neuropathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000352		
MONDO:0024326	biolink:Disease	pleural adenomatoid tumor	A rare benign neoplasm that arises from the mesothelial cells of the pleura. It is characterized by a proliferation of epithelioid cells forming glandular and tubular patterns in a fibrous stroma.	NCIT:C4499	mondo.json	pleural benign mesothelioma|pleura adenomatoid tumor|pleural mesothelioma, benign|pleural adenomatoid tumor|benign mesothelioma of pleura|benign mesothelioma of the pleura	http://purl.obolibrary.org/obo/MONDO_0024326	NCIT:C4499	
MONDO:0000359	biolink:Disease	spondylocostal dysostosis	Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital).	Orphanet:1797|GARD:0006798|MESH:C537565|GARD:0012174|GARD:0010726|OMIMPS:277300|NCIT:C125598|DOID:0050568|UMLS:CN201467	mondo.json	spondylocostal dysplasia|Jarcho-Levin syndrome|SCD|spondylocostal dysostosis|SCDO|costovertebral dysplasia	http://purl.obolibrary.org/obo/MONDO_0000359	DOID:0050568|https://omim.org/phenotypicSeries/PS277300|NCIT:C125598|UMLS:CN201467|http://identifiers.org/mesh/C537565	
MONDO:0026989	biolink:Disease	obsolete syndrome associated with hypertrophic cardiomyopathy		Orphanet:217595	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026989	Orphanet:217595	
MONDO:0000358	biolink:Disease	orofacial cleft		OMIMPS:119530|SCTID:449790007|DOID:0050567|UMLS:CN221583	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000358	http://identifiers.org/snomedct/449790007|UMLS:CN221583|https://omim.org/phenotypicSeries/PS119530|DOID:0050567	clingen
MONDO:0024325	biolink:Disease	cutaneous glomangiomyoma	A glomangiomyoma that involves the zone of skin.	ICD9:227.6|UMLS:C1275227|SCTID:403971002	mondo.json	zone of skin glomangiomyoma|glomangiomyoma of skin	http://purl.obolibrary.org/obo/MONDO_0024325	UMLS:C1275227|http://identifiers.org/snomedct/403971002	
MONDO:0000357	biolink:Disease	obsolete West syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000357		
MONDO:0024327	biolink:Disease	chronic renal failure syndrome	Impairment of the renal function due to chronic kidney damage.	MESH:D051436|SCTID:90688005|ICD9:585.9|NCIT:C9438	mondo.json	chronic renal failure|chronic renal failure disease|CRF - chronic renal failure|Chronic renal disease|kidney failure, chronic|chronic kidney failure	http://purl.obolibrary.org/obo/MONDO_0024327	http://identifiers.org/snomedct/90688005|http://identifiers.org/mesh/D051436|NCIT:C9438	
MONDO:0000356	biolink:Disease	obsolete Walker-Warburg syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000356		
MONDO:0012339	biolink:Disease	celiac disease, susceptibility to, 4	Any celiac disease in which the cause of the disease is a mutation in the MYO9B gene.	OMIM:609753	mondo.json	susceptibility to celiac disease 4|celiac disease, susceptibility to, 4|MYO9B celiac disease|celiac disease, susceptibility to, type 4|gluten-sensitive enteropathy, susceptibility to, 4|CELIAC4|celiac disease caused by mutation in MYO9B	http://purl.obolibrary.org/obo/MONDO_0012339	https://omim.org/entry/609753	predisposition
MONDO:0000351	biolink:Disease	disorder of methionine catabolism	An inherited metabolic disease that is has its basis in the disruption of methionine catabolic process.	HP:0003235|SCTID:43123004|DOID:0050544|UMLS:C4048705	mondo.json	inborn error of methionine catabolic process|rare inborn error of methionine catabolic process|hypermethioninemia|inborn methionine catabolic process disorder	http://purl.obolibrary.org/obo/MONDO_0000351	UMLS:C4048705|http://identifiers.org/snomedct/43123004|DOID:0050544	
MONDO:0000350	biolink:Disease	obsolete Charcot-Marie-Tooth disease intermediate type			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000350		
MONDO:0024320	biolink:Disease	inner ear neoplasm	A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma.	UMLS:C1512779|NCIT:C39784	mondo.json	inner Ear neoplasm|neoplasm of internal ear|internal ear neoplasm|internal ear tumor|internal Ear neoplasm|tumor of internal ear|internal ear neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0024320	NCIT:C39784|UMLS:C1512779	
NCBITaxon:4858	biolink:OrganismalEntity	Basidiobolaceae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_4858		
NCBITaxon:4859	biolink:OrganismalEntity	Basidiobolus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_4859		
UBERON:0035523	biolink:AnatomicalEntity	anterior surface of prostate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035523		
MONDO:0012344	biolink:Disease	Alzheimer disease 11	An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1.	DOID:0110044|MESH:C565228|UMLS:C1853360|OMIM:609790	mondo.json	Alzheimer's disease 11|AD11|Ad11|Alzheimer's disease type 11|Alzheimer disease 11|Alzheimer disease, familial, 11|Alzheimer disease-11|Alzheimer disease type 11	http://purl.obolibrary.org/obo/MONDO_0012344	UMLS:C1853360|https://omim.org/entry/609790|http://identifiers.org/mesh/C565228|DOID:0110044	
MONDO:0012345	biolink:Disease	acral peeling skin syndrome	Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.	OMIM:609796|Orphanet:263534|MESH:C536316|GARD:0012863|SCTID:709416009|UMLS:C1853354	mondo.json	peeling skin syndrome type 2|acral peeling skin syndrome|peeling skin syndrome 2|localized deciduous skin|acral deciduous skin|localized PSS|acral PSS|PSS2|peeling skin syndrome, acral type	http://purl.obolibrary.org/obo/MONDO_0012345	UMLS:C1853354|http://identifiers.org/snomedct/709416009|Orphanet:263534|https://omim.org/entry/609796|http://identifiers.org/mesh/C536316	gard_rare|ordo_disease
MONDO:0012342	biolink:Disease	7q11.23 microduplication syndrome	7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioural problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.	GARD:0012076|Orphanet:96121|DECIPHER:43|MESH:C565723|SCTID:726707004|UMLS:C4512054|UMLS:C1857844|OMIM:609757	mondo.json	7q11.23 duplication syndrome|trisomy 7q11.23|Somerville-Van Der Aa syndrome|Wbs Duplication syndrome|chromosome 7Q11.23 triplication syndrome|chromosome 7Q11.23 Duplication syndrome|Wbs triplication syndrome|dup(7)(q11.23)|Williams-Beuren region DUPLICATION syndrome	http://purl.obolibrary.org/obo/MONDO_0012342	https://omim.org/entry/609757|http://identifiers.org/snomedct/726707004|UMLS:C1857844|Orphanet:96121|http://identifiers.org/mesh/C565723|UMLS:C4512054	ordo_malformation_syndrome
MONDO:0012343	biolink:Disease	aortic aneurysm, familial abdominal, 2		MESH:C565229|OMIM:609782|UMLS:C1853364	mondo.json	aortic aneurysm, familial abdominal, 2|AAA2|aortic aneurysm, familial abdominal 2	http://purl.obolibrary.org/obo/MONDO_0012343	UMLS:C1853364|https://omim.org/entry/609782|http://identifiers.org/mesh/C565229	
MONDO:0012348	biolink:Disease	maturity-onset diabetes of the young type 8	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the CEL gene.	SCTID:609575003|OMIM:609812|DOID:0111105|MESH:C565225|GARD:0010662	mondo.json	MODY type 8|maturity-onset diabetes of the young (disease) caused by mutation in CEL|maturity-onset diabetes of the young, type VIII|diabetes and pancreatic exocrine dysfunction|type 8 maturity-onset diabetes of the young|diabetes and pancreatic exocrine|maturity-onset diabetes of the young, type 8, with exocrine dysfunction|DPED|maturity-onset diabetes of the young type 8 with exocrine dysfunction|maturity-onset diabetes of the young, type 8|MODY8|diabetes-pancreatic exocrine dysfunction syndrome|diabetes mellitus MODY type 8|CEL maturity-onset diabetes of the young (disease)	http://purl.obolibrary.org/obo/MONDO_0012348	http://identifiers.org/snomedct/609575003|https://omim.org/entry/609812|http://identifiers.org/mesh/C565225|DOID:0111105	gard_rare
MONDO:0012349	biolink:Disease	spondylocostal dysostosis 3, autosomal recessive	Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the LFNG gene.	OMIM:609813|GARD:0004973|UMLS:C1853296	mondo.json	spondylocostal dysostosis 3, autosomal recessive|SCDO3|LFNG autosomal recessive spondylocostal dysostosis|autosomal recessive spondylocostal dysostosis caused by mutation in LFNG|SCOD3|spondylocostal dysostosis 3	http://purl.obolibrary.org/obo/MONDO_0012349	UMLS:C1853296|https://omim.org/entry/609813	
MONDO:0012346	biolink:Disease	generalized epilepsy with febrile seizures plus, type 4		UMLS:C1853345|OMIM:609800|MESH:C565227|DOID:0111293	mondo.json	generalized epilepsy with febrile seizures plus, type 4|GEFSP4|Gefs+, type 4	http://purl.obolibrary.org/obo/MONDO_0012346	UMLS:C1853345|https://omim.org/entry/609800|DOID:0111293|http://identifiers.org/mesh/C565227	
MONDO:0012347	biolink:Disease	hamartoma, Precalcaneal congenital fibrolipomatous		OMIM:609808|MESH:C565226|UMLS:C1853298	mondo.json	Pcfh|hamartoma, Precalcaneal congenital fibrolipomatous	http://purl.obolibrary.org/obo/MONDO_0012347	UMLS:C1853298|https://omim.org/entry/609808|http://identifiers.org/mesh/C565226	
MONDO:0024318	biolink:Disease	viral infection of central nervous system		SCTID:302810003|MESH:D020805|UMLS:C0348165|ICD10CM:A80-A89|ICD10WHO:A80-A89	mondo.json	central nervous system viral infection|viral infection of central nervous system|viral disease of central nervous system	http://purl.obolibrary.org/obo/MONDO_0024318	UMLS:C0348165|https://icd.who.int/browse10/2019/en#/A80-A89|http://identifiers.org/mesh/D020805|http://identifiers.org/snomedct/302810003	
MONDO:0000349	biolink:Disease	obsolete Charcot-Marie-Tooth disease type 1			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000349		
MONDO:0012340	biolink:Disease	celiac disease, susceptibility to, 2		OMIM:609754	mondo.json	CELIAC2|gluten-sensitive enteropathy, susceptibility to, 2|celiac disease, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0012340	https://omim.org/entry/609754	predisposition
MONDO:0012341	biolink:Disease	celiac disease, susceptibility to, 3	Any celiac disease in which the cause of the disease is a mutation in the CTLA4 gene.	OMIM:609755	mondo.json	CTLA4 celiac disease|celiac disease, susceptibility to, type 3|CELIAC3|celiac disease caused by mutation in CTLA4|gluten-sensitive enteropathy, susceptibility to, 3|susceptibility to celiac disease 3|celiac disease, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0012341	https://omim.org/entry/609755	predisposition
MONDO:0000366	biolink:Disease	obsolete glycogen storage disease IX			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000366		
MONDO:0024311	biolink:Disease	cancer affecting bone of limb skeleton	A cancer that involves the limb bone.	ICD10CM:C40	mondo.json	malignant neoplasm of limb bone|cancer of limb bone|limb bone cancer|malignant limb bone neoplasm	http://purl.obolibrary.org/obo/MONDO_0024311	http://purl.bioontology.org/ontology/ICD10CM/C40	
MONDO:0000365	biolink:Disease	primary congenital glaucoma	Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.	UMLS:C1533041|SCTID:415176004|DOID:0050593|HP:0008007|NCIT:C150251|UMLS:C3888011	mondo.json	primary congenital glaucoma|primary congenital glaucoma (disease)	http://purl.obolibrary.org/obo/MONDO_0000365	http://identifiers.org/snomedct/415176004|UMLS:C1533041|UMLS:C3888011|NCIT:C150251|DOID:0050593	
MONDO:0024310	biolink:Disease	angiodysplasia of stomach	A angiodysplasia that involves the stomach.	UMLS:C0744273|SCTID:424802006	mondo.json	gastric vascular dysplasia|stomach angiodysplasia|gastric angiodysplasia	http://purl.obolibrary.org/obo/MONDO_0024310	UMLS:C0744273|http://identifiers.org/snomedct/424802006	
MONDO:0024313	biolink:Disease	staphylococcal infection	An infection caused by Staphylococcus.	NCIT:C35038|MESH:D013203|SCTID:56038003	mondo.json	staphylococcal infection	http://purl.obolibrary.org/obo/MONDO_0024313	http://identifiers.org/snomedct/56038003|NCIT:C35038|http://identifiers.org/mesh/D013203	
MONDO:0000364	biolink:Disease	obsolete severe congenital neutropenia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000364		
MONDO:0000363	biolink:Disease	gummatous syphilis	A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ.	DOID:0050584	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000363	DOID:0050584	
MONDO:0024312	biolink:Disease	cancer of short bone of upper limb		ICD10CM:C40.1	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024312	http://purl.bioontology.org/ontology/ICD10CM/C40.1	
MONDO:0024315	biolink:Disease	parasitic endophthalmitis	Infection of the epicondyles by a parasite.	UMLS:C0014238|SCTID:57100005|NCIT:C34587|ICD9:360.13	mondo.json	parasitic endophthalmitis	http://purl.obolibrary.org/obo/MONDO_0024315	NCIT:C34587|http://identifiers.org/snomedct/57100005|UMLS:C0014238	
MONDO:0024314	biolink:Disease	parasitemia	The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed)	UMLS:C0242723|MESH:D018512	mondo.json	Parasitemias	http://purl.obolibrary.org/obo/MONDO_0024314	http://identifiers.org/mesh/D018512|UMLS:C0242723	
MONDO:0000369	biolink:Disease	abdominal tuberculosis	An extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas.	SCTID:447330002|UMLS:C0740652|ICD9:014.80|DOID:0050599	mondo.json	tuberculosis of abdomen	http://purl.obolibrary.org/obo/MONDO_0000369	http://identifiers.org/snomedct/447330002|UMLS:C0740652|DOID:0050599	
MONDO:0024317	biolink:Disease	chronic pain syndrome	Chronic form of disorder involving pain.	ICD10CM:G89.4|SCTID:373621006|ICD9:338.4|UMLS:C1298685	mondo.json	chronic pain disease|disorder involving pain, chronic|chronic disorder involving pain	http://purl.obolibrary.org/obo/MONDO_0024317	http://identifiers.org/snomedct/373621006|http://purl.bioontology.org/ontology/ICD10CM/G89.4|UMLS:C1298685	
MONDO:0000368	biolink:Disease	extrapulmonary tuberculosis	A tuberculosis that occurs at body sites other than the lung.	UMLS:C0679362|SCTID:423997002|DOID:0050598	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000368	UMLS:C0679362|DOID:0050598|http://identifiers.org/snomedct/423997002	
MONDO:0024316	biolink:Disease	physiological malfunction arising from mental factor	A dysfunction in biological function that is due to a psychological process.	NCIT:C35186|UMLS:C0154548	mondo.json	physiological malfunction arising from mental Factor	http://purl.obolibrary.org/obo/MONDO_0024316	UMLS:C0154548|NCIT:C35186	
MONDO:0000367	biolink:Disease	taeniasis	A parasitic infection caused by tapeworms of the genus Taenia. Humans are infected by eating undercooked or raw meat of infected animals. It is usually an asymptomatic infection and patients may become aware of the infection by noticing segments of the tapeworm in their feces. If symptoms are present, they include nausea, abdominal pain, indigestion, constipation, or diarrhea.	ICD10CM:B68|MESH:D013622|UMLS:C0152073|EFO:1001433|ICD9:123.2|SCTID:69163003|NCIT:C85180|DOID:0050596	mondo.json	Taenia infection|taenia saginata infection|infections, Taenia|infection by Taeniarhynchus saginatus|infection by taenia saginata|unarmed tapeworm infection|beef tapeworm infection|Taenia saginata infectious disease	http://purl.obolibrary.org/obo/MONDO_0000367	NCIT:C85180|UMLS:C0152073|http://identifiers.org/mesh/D013622|http://purl.bioontology.org/ontology/ICD10CM/B68|DOID:0050596|http://identifiers.org/snomedct/69163003	
MONDO:0012328	biolink:Disease	trichilemmal cyst		UMLS:C1864801|SCTID:254677004|OMIM:609649|UMLS:C2266788	mondo.json	trichilemmal cyst 1|Tricholemmal cyst|Pilar cyst|TRICY1	http://purl.obolibrary.org/obo/MONDO_0012328	http://identifiers.org/snomedct/254677004|UMLS:C2266788|https://omim.org/entry/609649|UMLS:C1864801	
MONDO:0012329	biolink:Disease	short stature and Facioauriculothoracic malformations		MESH:C566457|UMLS:C1864791|OMIM:609654	mondo.json	short stature and Facioauriculothoracic malformations	http://purl.obolibrary.org/obo/MONDO_0012329	http://identifiers.org/mesh/C566457|https://omim.org/entry/609654|UMLS:C1864791	
MONDO:0000362	biolink:Disease	obsolete Sensenbrenner syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000362		
MONDO:0000361	biolink:Disease	obsolete d-2-hydroxyglutaric aciduria			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000361		
MONDO:0000360	biolink:Disease	obsolete 2-hydroxyglutaric aciduria			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000360		
MONDO:0012333	biolink:Disease	autosomal recessive nonsyndromic hearing loss 53	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene.	UMLS:C1864746|MESH:C566453|OMIM:609706|DOID:0110509	mondo.json	autosomal recessive nonsyndromic deafness caused by mutation in COL11A2|deafness, autosomal recessive type 53|DFNB53|autosomal recessive nonsyndromic deafness 53|deafness, autosomal recessive 53|autosomal recessive nonsyndromic deafness type 53|autosomal recessive deafness 53|COL11A2 autosomal recessive nonsyndromic deafness	http://purl.obolibrary.org/obo/MONDO_0012333	DOID:0110509|https://omim.org/entry/609706|UMLS:C1864746|http://identifiers.org/mesh/C566453	
MONDO:0014996	biolink:Disease	intellectual disability, autosomal recessive 58	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene.	GARD:0013361|OMIM:617270|UMLS:C4310641	mondo.json	intellectual disability, autosomal recessive type 58|ELP2-related disorder|mental retardation, autosomal recessive 58|autosomal recessive non-syndromic intellectual disability caused by mutation in ELP2|autosomal recessive intellectual disability 58|MRT58|intellectual developmental disorder, autosomal recessive 58|mental retardation, autosomal recessive type 58|ELP2 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 58	http://purl.obolibrary.org/obo/MONDO_0014996	UMLS:C4310641|https://omim.org/entry/617270	
MONDO:0012334	biolink:Disease	hereditary spastic paraplegia 29	Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.	MESH:C536863|Orphanet:101009|SCTID:733029008|OMIM:609727|UMLS:C1857855|DOID:0110780|GARD:0009729	mondo.json	autosomal dominant spastic paraplegia 29|spastic paraplegia 29, autosomal dominant|SPG29|spastic paraplegia 29|hereditary spastic paraplegia type 29|autosomal dominant spastic paraplegia type 29	http://purl.obolibrary.org/obo/MONDO_0012334	http://identifiers.org/mesh/C536863|http://identifiers.org/snomedct/733029008|DOID:0110780|Orphanet:101009|https://omim.org/entry/609727|UMLS:C1857855	ordo_disease
MONDO:0014995	biolink:Disease	neurodevelopmental disorder with hypotonia, seizures, and absent language		OMIM:617268|UMLS:C4310643	mondo.json	neurodevelopmental disorder with hypotonia, seizures, and absent language; NDHSAL|NDHSAL|neurodevelopmental disorder with hypotonia, seizures, and absent language	http://purl.obolibrary.org/obo/MONDO_0014995	UMLS:C4310643|https://omim.org/entry/617268	
MONDO:0014994	biolink:Disease	global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		UMLS:C4310644|OMIM:617260	mondo.json	global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies|global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies; GDACCF|GDACCF	http://purl.obolibrary.org/obo/MONDO_0014994	UMLS:C4310644|https://omim.org/entry/617260	
MONDO:0012331	biolink:Disease	migraine with aura, susceptibility to, 9		OMIM:609670	mondo.json	Mgr9|migraine with aura, susceptibility to, 9|migraine with aura, susceptibility to, type 9	http://purl.obolibrary.org/obo/MONDO_0012331	https://omim.org/entry/609670	predisposition
MONDO:0012332	biolink:Disease	obsolete short stature-delayed bone age due to thyroid hormone metabolism deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0012332		
MONDO:0014993	biolink:Disease	myofibrillar myopathy 8	Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene.	OMIM:617258|DOID:0080308|UMLS:C4310645	mondo.json	myopathy, myofibrillar, 8|MFM8|myofibrillar myopathy (disease) caused by mutation in PYROXD1|myofibrillar myopathy 8|myopathy, myofibrillar, type 8|PYROXD1 myofibrillar myopathy (disease)	http://purl.obolibrary.org/obo/MONDO_0014993	UMLS:C4310645|DOID:0080308|https://omim.org/entry/617258	
MONDO:0012337	biolink:Disease	glaucoma 1, open angle, I		OMIM:609745|UMLS:C1857852|MESH:C565724	mondo.json	GLC1I|glaucoma 1, open angle, I	http://purl.obolibrary.org/obo/MONDO_0012337	http://identifiers.org/mesh/C565724|https://omim.org/entry/609745|UMLS:C1857852	obsoletion_candidate
MONDO:0012338	biolink:Disease	epilepsy, idiopathic generalized, susceptibility to, 4		DOID:0111319|OMIM:609750	mondo.json	epilepsy, idiopathic generalized, susceptibility to, 4|epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10|epilepsy, idiopathic generalized, susceptibility to 4|EIG4	http://purl.obolibrary.org/obo/MONDO_0012338	DOID:0111319|https://omim.org/entry/609750	predisposition
MONDO:0014999	biolink:Disease	tooth agenesis, selective, 9	Any tooth agenesis in which the cause of the disease is a mutation in the GREM2 gene.	OMIM:617275	mondo.json	tooth agenesis, selective, 9; STHAG9|GREM2 tooth agenesis|tooth agenesis, selective, type 9|tooth agenesis caused by mutation in GREM2|tooth agenesis, selective, 9|STHAG9	http://purl.obolibrary.org/obo/MONDO_0014999	https://omim.org/entry/617275	
UBERON:0035529	biolink:AnatomicalEntity	left common iliac artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035529		
MONDO:0012335	biolink:Disease	obesity due to pro-opiomelanocortin deficiency	Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.	OMIM:609734|MESH:C565726|GARD:0010823|Orphanet:71526|ICD9:255.5|UMLS:C1857854|SCTID:702949005	mondo.json	obesity, adrenal insufficiency, and red hair due to POMC deficiency|obesity, early-onset, with adrenal insufficiency and Red hair|obesity, early-onset, with adrenal insufficiency and RED hair|POMC deficiency|obesity, early-onset, adrenal insufficiency, and Red hair|OBAIRH|PROOPIOMELANOCORTIN deficiency	http://purl.obolibrary.org/obo/MONDO_0012335	http://identifiers.org/mesh/C565726|Orphanet:71526|http://identifiers.org/snomedct/702949005|https://omim.org/entry/609734|UMLS:C1857854	ordo_malformation_syndrome
MONDO:0014998	biolink:Disease	glaucoma 3, primary congenital, E		UMLS:C4310639|OMIM:617272	mondo.json	glaucoma 3, primary congenital, E; GLC3E|glaucoma 3, primary congenital, E|GLC3E|glaucoma 3, primary congenital, type E	http://purl.obolibrary.org/obo/MONDO_0014998	UMLS:C4310639|https://omim.org/entry/617272	
MONDO:0012336	biolink:Disease	cataract 22 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB3 gene.	Orphanet:98988|UMLS:C1857853|DOID:0110268|Orphanet:98991|OMIM:609741|MESH:C565725	mondo.json	early-onset non-syndromic cataract caused by mutation in CRYBB3|cataract 22, multiple types|CTRCT22|cataract 22|autosomal recessive congenital nuclear cataract 2|CRYBB3 early-onset non-syndromic cataract|cataract, congenital nuclear, autosomal recessive 2|CATCN2	http://purl.obolibrary.org/obo/MONDO_0012336	DOID:0110268|http://identifiers.org/mesh/C565725|https://omim.org/entry/609741|UMLS:C1857853	
MONDO:0014997	biolink:Disease	nephronophthisis 20	Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene.	DOID:0111127|UMLS:C4310640|OMIM:617271	mondo.json	nephronophthisis 20|nephronophthisis type 20|NPHP20|MAPKBP1 nephronophthisis (disease)|nephronophthisis (disease) caused by mutation in MAPKBP1	http://purl.obolibrary.org/obo/MONDO_0014997	UMLS:C4310640|https://omim.org/entry/617271|DOID:0111127	
HP:0008169	biolink:PhenotypicFeature	Reduced factor VII activity	Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X.	SNOMEDCT_US:37193007|UMLS:C4024722|UMLS:C0015503|MSH:D005168	mondo.json	Factor VII deficiency	http://purl.obolibrary.org/obo/HP_0008169		
MONDO:0024308	biolink:Disease	pseudoxanthoma elasticum (inherited or acquired)	An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract.	SCTID:252246005|ICD9:757.39	mondo.json	PXE|pseudoxanthoma elasticum	http://purl.obolibrary.org/obo/MONDO_0024308	http://identifiers.org/snomedct/252246005	
MONDO:0024307	biolink:Disease	prothrombin deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0024307		
MONDO:0024309	biolink:Disease	neuropathy, hereditary sensory and autonomic, type 2A	A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13	DOID:0070155|OMIM:201300|UMLS:C0751540	mondo.json	HSAN2A|HSAN 2A|hereditary sensory and autonomic neuropathy type 2A|acroosteolysis, Giaccai type|neuropathy, hereditary sensory and autonomic, type II|acroosteolysis, neurogenic|neuropathy, hereditary sensory and autonomic, type IIA|Morvan disease|neuropathy, progressive sensory, of children|hereditary sensory and autonomic neuropathy type IIA|HSN 2A|neuropathy, hereditary sensory, type 2A|neuropathy, hereditary sensory radicular, autosomal recessive|neuropathy, congenital sensory	http://purl.obolibrary.org/obo/MONDO_0024309	https://omim.org/entry/201300|DOID:0070155	
MONDO:0014992	biolink:Disease	lissencephaly 8	Any lissencephaly (disease) in which the cause of the disease is a mutation in the TMTC3 gene.	OMIM:617255|UMLS:C4310646	mondo.json	lissencephaly type 8|lissencephaly 8|LIS8|lissencephaly (disease) caused by mutation in TMTC3|TMTC3 lissencephaly (disease)|lissencephaly 8; LIS8	http://purl.obolibrary.org/obo/MONDO_0014992	UMLS:C4310646|https://omim.org/entry/617255	
MONDO:0012330	biolink:Disease	talo-patello-scaphoid osteolysis	Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested.	MESH:C536894|OMIM:609655|UMLS:C1864784|GARD:0010061|Orphanet:50809	mondo.json	talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals|singh-Williams-McAlister syndrome	http://purl.obolibrary.org/obo/MONDO_0012330	https://omim.org/entry/609655|UMLS:C1864784|Orphanet:50809|http://identifiers.org/mesh/C536894	ordo_malformation_syndrome
MONDO:0014991	biolink:Disease	Seckel syndrome 10	Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene.	UMLS:C4310647|DOID:0070008|OMIM:617253	mondo.json	SCKL10|Seckel syndrome 10|NSMCE2 Seckel syndrome|Seckel syndrome caused by mutation in NSMCE2|Seckel syndrome type 10	http://purl.obolibrary.org/obo/MONDO_0014991	DOID:0070008|UMLS:C4310647|https://omim.org/entry/617253	
MONDO:0014990	biolink:Disease	uncombable hair syndrome 3	Any uncombable hair syndrome in which the cause of the disease is a mutation in the TCHH gene.	UMLS:C4310648|OMIM:617252	mondo.json	UHS3|uncombable hair syndrome type 3|uncombable hair syndrome caused by mutation in TCHH|TCHH uncombable hair syndrome|uncombable hair syndrome 3; UHS3|uncombable hair syndrome 3	http://purl.obolibrary.org/obo/MONDO_0014990	UMLS:C4310648|https://omim.org/entry/617252	
MONDO:0000333	biolink:Disease	early congenital syphilis	A congenital syphilis that is manifested between 0 and 2 years old.	DOID:0050488|UMLS:C0275859|SCTID:4359001|ICD9:090.2	mondo.json	Early congenital syphilis (less than 2 years)	http://purl.obolibrary.org/obo/MONDO_0000333	DOID:0050488|UMLS:C0275859|http://identifiers.org/snomedct/4359001	
MONDO:0002996	biolink:Disease	cavernous sinus meningioma	A meningioma that affects the cavernous sinus.	NCIT:C5268|DOID:4435|UMLS:C1332865	mondo.json	meningioma (disease) of cavernous sinus|meningioma of cavernous sinus|meningioma of the cavernous sinus|cavernous sinus meningioma (disease)	http://purl.obolibrary.org/obo/MONDO_0002996	DOID:4435|NCIT:C5268|UMLS:C1332865	
MONDO:0024300	biolink:Disease	hypophosphatemic rickets	Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D.	NCIT:C131449|MESH:D063730	mondo.json	hypophosphatemia, vitamin D-resistant rickets|acquired vitamin D resistant rickets|Phosphopenic rickets|Ricket, hypophosphatemic|hypophosphatemic rickets|hypophosphatemic Ricket|hypophosphatemic vitamin D-resistant rickets|rickets, vitamin D-resistant|acquired vitamin D-resistant rickets|vitamin D-resistant rickets|hypophosphatemic vitamin D resistant rickets|rickets, vitamin D resistant	http://purl.obolibrary.org/obo/MONDO_0024300	NCIT:C131449|http://identifiers.org/mesh/D063730	
MONDO:0000332	biolink:Disease	sennetsu fever	An ehlrichiosis caused by Neorickettsia sennetsu.	ICD9:088.89|DOID:0050485|GARD:0000120|UMLS:C0520779|SCTID:21013006|MESH:C537582	mondo.json	Neorickettsia sennetsu disease or disorder|Neorickettsia sennetsu infectious disease|Neorickettsia sennetsu caused disease or disorder|sennetsu fever|sennetsu ehrlichiosis|Human Ehrlichial infection, sennetsu type	http://purl.obolibrary.org/obo/MONDO_0000332	DOID:0050485|http://identifiers.org/snomedct/21013006|UMLS:C0520779|http://identifiers.org/mesh/C537582	gard_rare
MONDO:0002997	biolink:Disease	anterior cranial fossa meningioma	A meningioma that affects the anterior cranial fossa.	NCIT:C5286|UMLS:C1332301|DOID:4436	mondo.json	meningioma of anterior fossa|meningioma of the anterior fossa|meningioma (disease) of anterior cranial fossa|anterior cranial fossa meningioma (disease)|meningioma of anterior cranial fossa|meningioma of the anterior cranial fossa|anterior fossa meningioma	http://purl.obolibrary.org/obo/MONDO_0002997	DOID:4436|NCIT:C5286|UMLS:C1332301	
HP:0011792	biolink:PhenotypicFeature	Neoplasm by histology	Neoplasm categorized according to type of histological abnormality.	UMLS:C4023186	mondo.json		http://purl.obolibrary.org/obo/HP_0011792		
MONDO:0002998	biolink:Disease	skull base meningioma	A meningioma that arises from the skull base.	UMLS:C1335976|NCIT:C5272|DOID:4437	mondo.json	meningioma of skull base|basicranium meningioma (disease)|meningioma (disease) of basicranium|meningioma of the skull base|skull base meningioma	http://purl.obolibrary.org/obo/MONDO_0002998	DOID:4437|NCIT:C5272|UMLS:C1335976	
MONDO:0024302	biolink:Disease	internal hirudiniasis	A condition resulting from accidental ingestion of leeches in drinking water. They may attach themselves to the wall of the pharynx, nasal cavity, or larynx.	SCTID:187227006|ICD10CM:B83.4|UMLS:C0348999	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024302	http://identifiers.org/snomedct/187227006|UMLS:C0348999|http://purl.bioontology.org/ontology/ICD10CM/B83.4	
MONDO:0000331	biolink:Disease	Rickettsia helvetica spotted fever	A disease caused by infection with Rickettsia helvetica.	DOID:0050484	mondo.json	Rickettsia helvetica infectious disease|Rickettsia helvetica disease or disorder|Rickettsia helvetica caused disease or disorder|aneruptive fever|Rickettsia helvetica aneruptive fever	http://purl.obolibrary.org/obo/MONDO_0000331	DOID:0050484	
HP:0011793	biolink:PhenotypicFeature	Neoplasm by anatomical site	Neoplasm categorized according to the anatomical site of origin of the neoplasm.	UMLS:C4023185	mondo.json		http://purl.obolibrary.org/obo/HP_0011793		
MONDO:0000330	biolink:Disease	endemic typhus	A bacterial infection caused by Rickettsia typhi.	NCIT:C84688|UMLS:CN206047|DOID:0050481|MESH:D014437|Orphanet:83315|MedDRA:10028282	mondo.json	toulon typhus|murine typhus|urban typhus|cat flea rickettsiosis|endemic flea-borne typhus|urban typhus of Malaya|shop typhus|rat-flea typhus|fleaborne typhus|Rickettsia felis spotted fever|endemic typhus fever	http://purl.obolibrary.org/obo/MONDO_0000330	UMLS:CN206047|Orphanet:83315|NCIT:C84688|http://identifiers.org/mesh/D014437|DOID:0050481	ordo_disease
MONDO:0002999	biolink:Disease	central nervous system germinoma	A malignant germ cell tumor arising from the central nervous system. It is composed of uniform cells resembling primitive germ cells. These cells have large, vesicular nuclei, prominent nucleoli and a clear, glycogen-rich cytoplasm. Additional features are lymphoid or lymphoplasmacytic infiltrates and, less frequently, scattered syncytiotrophoblastic giant cells. (Adapted from WHO)	NCIT:C7009|DOID:4438	mondo.json	germinoma of central nervous system|intracranial germinoma|central nervous system germinoma (disease)|germinoma of the central nervous system|central nervous system germinoma|germinoma of CNS|germinoma of the CNS	http://purl.obolibrary.org/obo/MONDO_0002999	NCIT:C7009|DOID:4438	ordo_clinical_subtype
MONDO:0024301	biolink:Disease	acquired mineral metabolism disease	An instance of mineral metabolism disease that is acquired during the lifetime of the individual.	DOID:0050032	mondo.json	acquired mineral metabolism disease|mineral metabolism disease	http://purl.obolibrary.org/obo/MONDO_0024301	DOID:0050032	
MONDO:0024304	biolink:Disease	ichthyosis vulgaris	The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin.	NCIT:C84778|GARD:0006752|UMLS:C0079584	mondo.json	ichthyosis vulgaris|fish scale disease|common ichthyosis	http://purl.obolibrary.org/obo/MONDO_0024304	NCIT:C84778	
MONDO:0000337	biolink:Disease	exanthema subitum	An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk.	UMLS:C0595993|EFO:1001320|UMLS:C0015231|NCIT:C128420|MESH:D005077|ICD9:058.1|DOID:0050495|ICD9:057.8|ICD9:058.10|SCTID:54385001	mondo.json	roseola Infantum|pseudorubella|exanthem subitum|sixth disease|roseola	http://purl.obolibrary.org/obo/MONDO_0000337	DOID:0050495|NCIT:C128420|UMLS:C0595993|http://identifiers.org/mesh/D005077|UMLS:C0015231|http://identifiers.org/snomedct/54385001	
MONDO:0002992	biolink:Disease	obsolete juvenile xanthogranuloma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002992		
MONDO:0024303	biolink:Disease	external hirudiniasis	The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate.	SCTID:1086871000119109|UMLS:C0392037|ICD10CM:B88.3	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024303	http://purl.bioontology.org/ontology/ICD10CM/B88.3|http://identifiers.org/snomedct/1086871000119109|UMLS:C0392037	
MONDO:0002993	biolink:Disease	pancreatic somatostatinoma	A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss.	NCIT:C95595|DOID:4432|EFO:1001964|UMLS:C1368041	mondo.json	pancreatic somatostatin cell tumor|pancreatic delta cell somatostatin producing neoplasm	http://purl.obolibrary.org/obo/MONDO_0002993	NCIT:C95595|DOID:4432|UMLS:C1368041	
MONDO:0000336	biolink:Disease	meningovascular neurosyphilis	A tertiary neurosyphilis that results in inflammation located in arteries of the brain or located in arteries of spinal cord. The infection has symptom headache, has symptom neck stiffness, has symptom dizziness, has symptom behavioral abnormalities, has symptom poor concentration, has symptom memory loss, has symptom lassitude, has symptom insomnia, has symptom blurred vision, has symptom weakness and wasting of shoulder-girdle and arm muscles, has symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has symptom paralysis of the legs due to thrombosis of spinal arteries.	DOID:0050491	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000336	DOID:0050491	
MONDO:0002994	biolink:Disease	pancreatic delta cell neuroendocrine tumor	A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It may be associated with inappropriate secretion of somatostatin and an associated clinical syndrome, or it may be hormonally inactive (non-functioning).	NCIT:C28396|DOID:4433|UMLS:C1335301	mondo.json	pancreatic Delta cell neuroendocrine tumor|pancreatic Delta cell neoplasm|pancreatic Delta cell NET|pancreatic Delta cell tumor|pancreatic delta cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0002994	NCIT:C28396|UMLS:C1335301|DOID:4433	
MONDO:0000335	biolink:Disease	parenchymatous neurosyphilis	A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has symptom irritability, has symptom difficulty concentrating, has symptom deterioration of memory, has symptom defective judgment, has symptom headaches, has symptom insomnia, has symptom fatigue, and has symptom lethargy.	DOID:0050490	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000335	DOID:0050490	
MONDO:0024306	biolink:Disease	acquired lactic acidosis	An instance of lactic acidosis that is acquired during the lifetime of the individual.	EFO:1000036|SCTID:91273001|MESH:D000140|DOID:3650	mondo.json	lactic acidosis|acquired lactic acidosis	http://purl.obolibrary.org/obo/MONDO_0024306	DOID:3650	
MONDO:0024305	biolink:Disease	acquired hyperprolactinemia	An instance of hyperprolactinemia (disease) that is acquired during the lifetime of the individual.	ICD10CM:E22.1|DOID:12700|MESH:D006966|MESH:D002640	mondo.json	Chiari-Frommel syndrome|acquired hyperprolactinemia (disease)|pregnancy-related A-G syndrome|hyperprolactinemia	http://purl.obolibrary.org/obo/MONDO_0024305	DOID:12700	
MONDO:0002995	biolink:Disease	small intestine neuroendocrine tumor, well differentiated, low or intermediate grade	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the small intestine.	NCIT:C96061|UMLS:C3272528|EFO:1001928	mondo.json	small intestinal NET|carcinoid tumor of small intestine|small intestinal neuroendocrine tumor|small intestinal well differentiated endocrine tumor|small intestinal well differentiated endocrine tumor/carcinoma|small intestine neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0002995	NCIT:C96061|UMLS:C3272528	
MONDO:0000334	biolink:Disease	multinodular goiter	Nodular goiter characterized by more than one discrete tissue mass.	DOID:0050489|SCTID:237570007|NCIT:C131438|UMLS:C0342208|OMIMPS:138800	mondo.json	goiter, multinodular	http://purl.obolibrary.org/obo/MONDO_0000334	DOID:0050489|UMLS:C0342208|http://identifiers.org/snomedct/237570007|NCIT:C131438|https://omim.org/phenotypicSeries/PS138800	
MONDO:0012319	biolink:Disease	major affective disorder 3		MESH:C566501|UMLS:C1864994|OMIM:609633	mondo.json	major affective disorder 3, early onset|bipolar affective disorder, early-onset|major affective disorder 3|MAFD3|MAJOR affective disorder 3	http://purl.obolibrary.org/obo/MONDO_0012319	http://identifiers.org/mesh/C566501|https://omim.org/entry/609633|UMLS:C1864994	
MONDO:0012317	biolink:Disease	visceral neuropathy, familial, 3, autosomal dominant		OMIM:609629|UMLS:C1864996	mondo.json	enteric neuropathy, familial|pseudoobstruction, idiopathic intestinal|pseudoobstruction, chronic intestinal, neuropathic|visceral neuropathy, familial, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012317	https://omim.org/entry/609629|UMLS:C1864996	
MONDO:0002990	biolink:Disease	benign deep fibrous histiocytoma	A rare, well-circumscribed, pseudo-encapsulated benign fibrous histiocytoma that arises entirely within the subcutaneous tissue or deep soft tissue. It usually affects the extremities or the head and neck region. It recurs locally in a minority of cases.	NCIT:C6492|DOID:4419|UMLS:C1266125	mondo.json	deep benign fibrous histiocytoma|benign deep fibrous histiocytoma	http://purl.obolibrary.org/obo/MONDO_0002990	NCIT:C6492|UMLS:C1266125|DOID:4419	
MONDO:0014979	biolink:Disease	myoclonus, intractable, neonatal		OMIM:617235|UMLS:C4310658	mondo.json	NEIMY|myoclonus, intractable, neonatal|myoclonus, intractable, neonatal; NEIMY	http://purl.obolibrary.org/obo/MONDO_0014979	https://omim.org/entry/617235|UMLS:C4310658	
MONDO:0002991	biolink:Disease	adenocarcinofibroma	A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells in a fibrotic stroma. Histologic variants include clear cell, serous, mucinous, and endometrioid adenocarcinofibroma.	UMLS:C1510778|NCIT:C40035|DOID:4422	mondo.json	adenocarcinofibroma|adenofibroma, malignant|malignant adenofibroma	http://purl.obolibrary.org/obo/MONDO_0002991	UMLS:C1510778|NCIT:C40035|DOID:4422	
MONDO:0012318	biolink:Disease	leukemia, chronic lymphocytic, susceptibility to, 1		OMIM:609630	mondo.json	Clls1|leukemia, chronic lymphocytic, susceptibility to, type 1|leukemia, chronic lymphocytic, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0012318	https://omim.org/entry/609630	predisposition
UBERON:0035546	biolink:AnatomicalEntity	uveal vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035546		
CHEBI:63551	biolink:ChemicalSubstance	carbohydrate acid derivative anion	A carboxylic acid anion resulting from the deprotonation of the carboxy group of a carbohydrate acid derivative.		mondo.json	carbohydrate acid anion derivatives|carbohydrate acid anion derivative|carbohydrate acid derivative anions	http://purl.obolibrary.org/obo/CHEBI_63551		
UBERON:0035545	biolink:AnatomicalEntity	deep lymphatic vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035545		
MONDO:0012322	biolink:Disease	holoprosencephaly 5	Holoprosencephaly associated with mutations in the ZIC2 gene.	DOID:0110878|MESH:C566464|UMLS:C1864827|OMIM:609637|NCIT:C75460	mondo.json	holoprosencephaly type 5|HPE5|holoprosencephaly caused by mutation in ZIC2|holoprosencephaly 5|ZIC2 holoprosencephaly	http://purl.obolibrary.org/obo/MONDO_0012322	NCIT:C75460|DOID:0110878|https://omim.org/entry/609637|UMLS:C1864827|http://identifiers.org/mesh/C566464	
MONDO:0014985	biolink:Disease	Fanconi anemia complementation group V	Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.	DOID:0111080|OMIM:617243|UMLS:C4310652	mondo.json	Fanconi anemia, complementation GROUP V|Fanconi anemia caused by mutation in MAD2L2|Fanconi Anemia, complementation Group 5|MAD2L2 Fanconi anemia|FANCV|Fanconi anemia complementation group type V|Fanconi Anemia, complementation group V|Fanconi Anemia, complementation group type V	http://purl.obolibrary.org/obo/MONDO_0014985	UMLS:C4310652|https://omim.org/entry/617243|DOID:0111080	
MONDO:0012323	biolink:Disease	lethal acantholytic epidermolysis bullosa	Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters.	UMLS:C1864826|OMIM:609638|GARD:0009910|Orphanet:158687|MESH:C535493	mondo.json	LAEB|epidermolysis bullosa, lethal acantholytic|EBLA|lethal acantholytic epidermolysis bullosa	http://purl.obolibrary.org/obo/MONDO_0012323	http://identifiers.org/mesh/C535493|Orphanet:158687|https://omim.org/entry/609638|UMLS:C1864826	ordo_disease|gard_rare
MONDO:0014984	biolink:Disease	lung disease, immunodeficiency, and chromosome breakage syndrome;		OMIM:617241|UMLS:C4310653	mondo.json	LICS|lung disease, immunodeficiency, and chromosome breakage syndrome	http://purl.obolibrary.org/obo/MONDO_0014984	UMLS:C4310653|https://omim.org/entry/617241	
MONDO:0012320	biolink:Disease	migraine, familial hemiplegic, 3	Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene.	OMIM:609634|GARD:0010974|UMLS:C1864987|DOID:0111183|MESH:C566500	mondo.json	migraine, familial hemiplegic, type 3|SCN1A familial or sporadic hemiplegic migraine|FHM3|familial or sporadic hemiplegic migraine caused by mutation in SCN1A|migraine, familial hemiplegic, 3	http://purl.obolibrary.org/obo/MONDO_0012320	https://omim.org/entry/609634|UMLS:C1864987|http://identifiers.org/mesh/C566500|DOID:0111183	
UBERON:0035539	biolink:AnatomicalEntity	esophageal artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035539		
MONDO:0014983	biolink:Disease	congenital myasthenic syndrome 21	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene.	OMIM:617239|DOID:0110672|UMLS:C4310654	mondo.json	myasthenic syndrome, congenital, 21, presynaptic|congenital myasthenic syndrome 21, presynaptic|congenital myasthenic syndrome caused by mutation in SLC18A3|SLC18A3 congenital myasthenic syndrome|CMS21|congenital myasthenic syndrome type 21	http://purl.obolibrary.org/obo/MONDO_0014983	DOID:0110672|UMLS:C4310654|https://omim.org/entry/617239	
MONDO:0012321	biolink:Disease	Alzheimer disease 10	An Alzheimer's disease that is characterized by an associated with variation in the region 7q36.	MESH:C566465|OMIM:609636|UMLS:C1864828|DOID:0110043	mondo.json	Alzheimer disease-10|Ad10|Alzheimer disease, familial, 10|Alzheimer disease 10|Alzheimer's disease 10|AD10|Alzheimer's disease type 10|Alzheimer disease type 10|Alzheimer disease familial 10	http://purl.obolibrary.org/obo/MONDO_0012321	DOID:0110043|https://omim.org/entry/609636|UMLS:C1864828|http://identifiers.org/mesh/C566465	
MONDO:0014982	biolink:Disease	myopia 25, autosomal dominant	Any myopia (disease) in which the cause of the disease is a mutation in the P4HA2 gene.	OMIM:617238|UMLS:C4310655	mondo.json	myopia 25, autosomal dominant; MYP25|myopia (disease) caused by mutation in P4HA2|P4HA2 myopia (disease)|myopia 25, autosomal dominant|MYP25	http://purl.obolibrary.org/obo/MONDO_0014982	UMLS:C4310655|https://omim.org/entry/617238	
MONDO:0012326	biolink:Disease	autosomal recessive nonsyndromic hearing loss 42	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene.	OMIM:609646|DOID:0110500|MESH:C566460|UMLS:C1864818	mondo.json	deafness, autosomal recessive type 42|ILDR1 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 42|autosomal recessive nonsyndromic deafness caused by mutation in ILDR1|autosomal recessive nonsyndromic deafness 42|autosomal recessive deafness 42|DFNB42|autosomal recessive nonsyndromic deafness type 42	http://purl.obolibrary.org/obo/MONDO_0012326	http://identifiers.org/mesh/C566460|DOID:0110500|https://omim.org/entry/609646|UMLS:C1864818	
MONDO:0014989	biolink:Disease	uncombable hair syndrome 2	Any uncombable hair syndrome in which the cause of the disease is a mutation in the TGM3 gene.	UMLS:C4310649|OMIM:617251	mondo.json	uncombable hair syndrome caused by mutation in TGM3|uncombable hair syndrome 2|uncombable hair syndrome 2; UHS2|TGM3 uncombable hair syndrome|UHS2|uncombable hair syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0014989	UMLS:C4310649|https://omim.org/entry/617251	
MONDO:0014988	biolink:Disease	obsolete 3-methylglutaconic aciduria, type VIII			mondo.json		http://purl.obolibrary.org/obo/MONDO_0014988		
MONDO:0012327	biolink:Disease	autosomal recessive nonsyndromic hearing loss 46	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31.	OMIM:609647|DOID:0110503|UMLS:C1864815|MESH:C566459	mondo.json	DFNB46|deafness, autosomal recessive 46|autosomal recessive nonsyndromic deafness type 46|autosomal recessive nonsyndromic deafness 46|autosomal recessive deafness 46	http://purl.obolibrary.org/obo/MONDO_0012327	http://identifiers.org/mesh/C566459|DOID:0110503|https://omim.org/entry/609647|UMLS:C1864815	
MONDO:0012324	biolink:Disease	Frias syndrome	A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.	Orphanet:2055|UMLS:C1864825|GARD:0002384|MESH:C535639|OMIM:609640|Orphanet:264200	mondo.json	monosomy 14q22-q23|chromosome 14Q22 deletion syndrome|14q22-q23 microdeletion syndrome|14q22q23 microdeletion syndrome|Growth deficiency, Facial anomalies, and brachydactyly|monosomy 14q22q23|Del(14)(q22q23)|Frias syndrome	http://purl.obolibrary.org/obo/MONDO_0012324	http://identifiers.org/mesh/C535639|Orphanet:264200|https://omim.org/entry/609640|UMLS:C1864825	ordo_malformation_syndrome
MONDO:0014987	biolink:Disease	Fanconi anemia complementation group U	Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.	UMLS:C4310651|DOID:0111085|OMIM:617247	mondo.json	Fanconi Anemia, complementation group U|Fanconi Anemia, complementation group type U|Fanconi anemia, complementation GROUP U|Fanconi anemia complementation group type U|XRCC2 Fanconi anemia|FANCU|Fanconi anemia caused by mutation in XRCC2	http://purl.obolibrary.org/obo/MONDO_0014987	UMLS:C4310651|https://omim.org/entry/617247|DOID:0111085	
MONDO:0012325	biolink:Disease	Nguyen syndrome		MESH:C536115|GARD:0009754|OMIM:609643|UMLS:C1864823	mondo.json	Nguyen syndrome|MCA/Mr with hypocholesterolemia due to familial hypobetalipoproteinemia|MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia	http://purl.obolibrary.org/obo/MONDO_0012325	http://identifiers.org/mesh/C536115|https://omim.org/entry/609643|UMLS:C1864823	gard_rare
NCIT:C16149	biolink:NamedThing	Progesterone Receptor Status			mondo.json		http://purl.obolibrary.org/obo/NCIT_C16149		http://purl.obolibrary.org/obo/NCIT_C156952|http://purl.obolibrary.org/obo/NCIT_C156953|http://purl.obolibrary.org/obo/NCIT_C142800|http://purl.obolibrary.org/obo/NCIT_C142799|http://purl.obolibrary.org/obo/NCIT_C159413|http://purl.obolibrary.org/obo/NCIT_C116977
MONDO:0014986	biolink:Disease	Fanconi anemia complementation group R	Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene.	DOID:0111090|UMLS:C4284093|OMIM:617244	mondo.json	Fanconi anemia complementation group type R|RAD51 Fanconi anemia|Fanconi Anemia, complementation group R|Fanconi anemia caused by mutation in RAD51|Fanconi Anemia, complementation group type R|Fanconi anemia, complementation GROUP R|FANCR	http://purl.obolibrary.org/obo/MONDO_0014986	UMLS:C4284093|https://omim.org/entry/617244|DOID:0111090	
HP:0011799	biolink:PhenotypicFeature	Abnormality of facial soft tissue		UMLS:C4023183	mondo.json	Malformation of facial soft tissue|Deformity of facial soft tissue|Abnormality of facial soft tissue|Anomaly of facial soft tissue	http://purl.obolibrary.org/obo/HP_0011799		
MONDO:0000329	biolink:Disease	obsolete epidemic typhus			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000329		
MONDO:0000328	biolink:Disease	hyperphosphatemia	Abnormally high level of phosphate in the blood.	MESH:D054559|HP:0002905|DOID:0050459|SCTID:20165001|UMLS:C0085681	mondo.json	hyperphosphatemia|hyperphosphatemia (disease)	http://purl.obolibrary.org/obo/MONDO_0000328	UMLS:C0085681|DOID:0050459|http://identifiers.org/mesh/D054559|http://identifiers.org/snomedct/20165001	
MONDO:0000327	biolink:Disease	Buruli ulcer disease	A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers.	DOID:0050456|SCTID:15845006|MESH:D054312|EFO:1001281|UMLS:C0085568|NCIT:C84604	mondo.json	Mycobacterium ulcerans infectious disease|Mycobacterium ulcerans caused disease or disorder|Searl ulcer|Searle's ulcer|Mossman ulcer|Mycobacterium ulcerans disease or disorder|Buruli ulcer|Bairnsdale ulcer|Daintree ulcer	http://purl.obolibrary.org/obo/MONDO_0000327	UMLS:C0085568|http://identifiers.org/mesh/D054312|DOID:0050456|http://identifiers.org/snomedct/15845006|NCIT:C84604	
MONDO:0014981	biolink:Disease	immunodeficiency 49	Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene.	OMIM:617237|UMLS:C4310656	mondo.json	BCL11B primary immunodeficiency disease|immunodeficiency type 49|SCID, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities|IMD49|immunodeficiency 49; IMD49|severe combined immunodeficiency, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities|immunodeficiency 49|primary immunodeficiency disease caused by mutation in BCL11B	http://purl.obolibrary.org/obo/MONDO_0014981	UMLS:C4310656|https://omim.org/entry/617237	
MONDO:0002989	biolink:Disease	benign fibrous histiocytoma	A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. It is characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage.	ICDO:8830/0|DOID:4415|UMLS:C0206644|MESH:D018219|NCIT:C3739	mondo.json	fibrous histiocytoma NOS (morphologic abnormality)|histiocytoma, fibrous, benign|fibroxanthoma|benign fibrous histiocytoma|benign fibrous histiocytoma (morphologic abnormality)|fibroxanthoma NOS (morphologic abnormality)|fibrous histiocytoma	http://purl.obolibrary.org/obo/MONDO_0002989	DOID:4415|UMLS:C0206644|http://identifiers.org/mesh/D018219|NCIT:C3739	
MONDO:0014980	biolink:Disease	cone-rod dystrophy and hearing loss		OMIMPS:617236|UMLS:C4310657|EFO:0009151	mondo.json	cone-rod dystrophy and hearing loss; CRDHL|CRDHL|cone-rod dystrophy and hearing loss	http://purl.obolibrary.org/obo/MONDO_0014980	UMLS:C4310657|https://omim.org/phenotypicSeries/PS617236	
MONDO:0000344	biolink:Disease	Ross river fever	A disease caused by infection with Ross River virus.	SCTID:602001|UMLS:C0035865|DOID:0050518	mondo.json	Ross River virus caused disease or disorder|Ross River virus disease|Ross River virus disease or disorder|Ross River virus infectious disease	http://purl.obolibrary.org/obo/MONDO_0000344	http://identifiers.org/snomedct/602001|DOID:0050518	
MONDO:0000343	biolink:Disease	Barmah forest virus disease	A disease caused by infection with Barmah Forest virus.	DOID:0050517	mondo.json	Barmah Forest virus infectious disease|Barmah Forest virus caused disease or disorder|Barmah Forest virus disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000343	DOID:0050517	
MONDO:0000342	biolink:Disease	O'nyong'nyong fever	An disease or disorder caused by infection with O'nyong-nyong virus.	MEDGEN:547234|SCTID:85579005|DOID:0050516|UMLS:C0276286|ICD10CM:A92.1	mondo.json	O'nyong-nyong virus disease or disorder|O'nyong-nyong virus infectious disease|O'nyong-nyong virus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000342	http://purl.bioontology.org/ontology/ICD10CM/A92.1|http://identifiers.org/snomedct/85579005|DOID:0050516|UMLS:C0276286	
MONDO:0000341	biolink:Disease	paralytic poliomyelitis	A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis.	DOID:0050515	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000341	DOID:0050515	
MONDO:0000348	biolink:Disease	obsolete posterior polar cataract		DOID:0050537	mondo.json	obsolete posterior polar cataract (disease)|cataract, posterior polar	http://purl.obolibrary.org/obo/MONDO_0000348	DOID:0050537	
MONDO:0000347	biolink:Disease	obsolete adult T-cell leukemia/lymphoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000347		
MONDO:0000346	biolink:Disease	Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type		DOID:0050522	mondo.json	Balkan hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0000346	DOID:0050522	
MONDO:0000345	biolink:Disease	Oropouche fever	A disease caused by infection with Oropouche virus.	DOID:0050521|MEDGEN:547314|SCTID:72880002|UMLS:C0276386	mondo.json	Oropouche virus disease or disorder|Oropouche virus infectious disease|Oropouche virus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000345	DOID:0050521|UMLS:C0276386|http://identifiers.org/snomedct/72880002	
MONDO:0012308	biolink:Disease	Joubert syndrome with renal defect	A rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.	Orphanet:220497|SCTID:716999001|OMIM:611560|GARD:0010169|DOID:0110999|NCIT:C74997|OMIM:609583|OMIM:614424|MESH:C536296	mondo.json	Joubert syndrome 4|JBTS4|JS-R|Joubert syndrome with renal anomalies|Joubert syndrome type 4	http://purl.obolibrary.org/obo/MONDO_0012308	http://identifiers.org/mesh/C536296|NCIT:C74997|DOID:0110999|https://omim.org/entry/609583|http://identifiers.org/snomedct/716999001|Orphanet:220497	gard_rare|ordo_disease
UBERON:0035551	biolink:AnatomicalEntity	deep vasculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035551		
MONDO:0012309	biolink:Disease	parietal foramina 2	Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene.	OMIM:609597|MESH:C566510|UMLS:C1865044	mondo.json	parietal foramina type 2|parietal foramina caused by mutation in ALX4|PFM2|ALX4 parietal foramina|parietal foramina 2	http://purl.obolibrary.org/obo/MONDO_0012309	http://identifiers.org/mesh/C566510|UMLS:C1865044|https://omim.org/entry/609597	
UBERON:0035550	biolink:AnatomicalEntity	superficial vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035550		
MONDO:0012306	biolink:Disease	cardiomyopathy, familial restrictive, 2		UMLS:C1865071|MESH:C566512|DOID:0111426|OMIM:609578	mondo.json	RCM2|cardiomyopathy, familial restrictive, 2	http://purl.obolibrary.org/obo/MONDO_0012306	http://identifiers.org/mesh/C566512|DOID:0111426|UMLS:C1865071|https://omim.org/entry/609578	
MONDO:0014969	biolink:Disease	isolated sedoheptulokinase deficiency		UMLS:C1291373|OMIM:617213|SCTID:124309005|Orphanet:440713|ICD9:277.6	mondo.json	sedoheptulokinase deficiency|SHPKD|isolated SHPK deficiency	http://purl.obolibrary.org/obo/MONDO_0014969	https://omim.org/entry/617213|http://identifiers.org/snomedct/124309005|Orphanet:440713|UMLS:C1291373	ordo_disease
UBERON:0035553	biolink:AnatomicalEntity	left cardiac chamber			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035553		
MONDO:0014968	biolink:Disease	encephalopathy, progressive, with amyotrophy and optic atrophy		UMLS:C4310667|OMIM:617207	mondo.json	encephalopathy, progressive, with amyotrophy and optic atrophy; PEAMO|PEAMO|encephalopathy, progressive, with amyotrophy and optic atrophy	http://purl.obolibrary.org/obo/MONDO_0014968	UMLS:C4310667|https://omim.org/entry/617207	
MONDO:0012307	biolink:Disease	familial scaphocephaly syndrome, McGillivray type	Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.	Orphanet:168624|MESH:C566511|OMIM:609579|UMLS:C1865070	mondo.json	scaphocephaly, maxillary retrusion, and intellectual disability|scaphocephaly, maxillary retrusion, and mental retardation|scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0012307	http://identifiers.org/mesh/C566511|UMLS:C1865070|Orphanet:168624|https://omim.org/entry/609579	ordo_malformation_syndrome
UBERON:0035552	biolink:AnatomicalEntity	deep vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035552		
MONDO:0000340	biolink:Disease	bulbospinal polio	A paralytic poliomyelitis in which the site of paralysis is the bulbospinal tract.	DOID:0050514	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000340	DOID:0050514	
OBO:pato#different_in_magnitude_relative_to	biolink:NamedThing	different_in_magnitude_relative_to	q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale.		mondo.json		http://purl.obolibrary.org/obo/pato#different_in_magnitude_relative_to		
UBERON:0035554	biolink:AnatomicalEntity	right cardiac chamber			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035554		
MONDO:0012311	biolink:Disease	spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness		OMIM:609616|MESH:C566507|UMLS:C1865022	mondo.json	spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness	http://purl.obolibrary.org/obo/MONDO_0012311	http://identifiers.org/mesh/C566507|UMLS:C1865022|https://omim.org/entry/609616	
MONDO:0014974	biolink:Disease	sudden cardiac failure, alcohol-induced		UMLS:C4310663|OMIM:617223	mondo.json	sudden cardiac failure, alcohol-induced; SCFAI|sudden Cardiac failure, alcohol-induced|SCFAI	http://purl.obolibrary.org/obo/MONDO_0014974	UMLS:C4310663|https://omim.org/entry/617223	
UBERON:0035548	biolink:AnatomicalEntity	colic artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035548		
MONDO:0012312	biolink:Disease	short QT syndrome type 1	Any short QT syndrome in which the cause of the disease is a mutation in the KCNH2 gene.	OMIM:609620|UMLS:C1865020|MESH:C566506	mondo.json	SQT1|short QT syndrome type 1|KCNH2 short QT syndrome|short QT syndrome 1|SQTS|short QT syndrome caused by mutation in KCNH2	http://purl.obolibrary.org/obo/MONDO_0012312	http://identifiers.org/mesh/C566506|UMLS:C1865020|https://omim.org/entry/609620	
MONDO:0014973	biolink:Disease	sudden cardiac failure, infantile		OMIM:617222|UMLS:C4310664	mondo.json	sudden Cardiac failure, infantile|SCFI|sudden cardiac failure, infantile; SCFI	http://purl.obolibrary.org/obo/MONDO_0014973	UMLS:C4310664|https://omim.org/entry/617222	
MONDO:0014972	biolink:Disease	chromosome 19q13.11 deletion syndrome, proximal	Chromosome 19q13.11 deletion syndrome in which the proximal region was deleted.	UMLS:C4311046|OMIM:617219	mondo.json		http://purl.obolibrary.org/obo/MONDO_0014972	UMLS:C4311046|https://omim.org/entry/617219	
MONDO:0014971	biolink:Disease	amelogenesis imperfecta, hypomaturation type, IIa6		OMIM:617217|UMLS:C4310665	mondo.json	AI2A6|amelogenesis imperfecta, hypomaturation type, IIa6|amelogenesis imperfecta, hypomaturation type, IIa6; AI2A6	http://purl.obolibrary.org/obo/MONDO_0014971	UMLS:C4310665|https://omim.org/entry/617217	
MONDO:0012310	biolink:Disease	fibrosis of extraocular muscles, congenital, with synergistic divergence		OMIM:609612|MESH:C566508|UMLS:C1865040	mondo.json	fibrosis of extraocular muscles, congenital, with synergistic divergence|congenital fibrosis syndrome with synergistic divergence|external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation|external ophthalmoplegia with synergistic divergence	http://purl.obolibrary.org/obo/MONDO_0012310	UMLS:C1865040|https://omim.org/entry/609612|http://identifiers.org/mesh/C566508	
UBERON:0035549	biolink:AnatomicalEntity	vasculature of integument			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035549		
MONDO:0012315	biolink:Disease	distal 10q deletion syndrome	Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.	MESH:C567182|UMLS:C4305277|GARD:0003711|SCTID:718687003|Orphanet:96148|UMLS:C2674937|DOID:0060390|OMIM:609625	mondo.json	telomeric deletion 10q|distal monosomy 10q|terminal chromosome 10Q26 deletion syndrome|10q monosomy|distal deletion 10q|chromosome 10q deletion|terminal chromosome 10q26 deletion syndrome|deletion 10q|monosomy 10qter|chromosome 10q26 deletion syndrome|distal monosomy type 10q|monosomy 10q|partial monosomy 10q|10q deletion	http://purl.obolibrary.org/obo/MONDO_0012315	Orphanet:96148|UMLS:C2674937|DOID:0060390|https://omim.org/entry/609625|http://identifiers.org/snomedct/718687003|http://identifiers.org/mesh/C567182|UMLS:C4305277	ordo_malformation_syndrome
MONDO:0014978	biolink:Disease	obsolete preimplantation embryonic lethality 2	OBSOLETE. Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the PADI6 gene.	OMIM:617234|UMLS:C4310659	mondo.json	preimplantation embryonic lethality type 2|PADI6 preimplantation embryonic lethality|preimplantation embryonic lethality caused by mutation in PADI6|PREMBL2|preimplantation embryonic lethality 2; PREMBL2|preimplantation embryonic lethality 2	http://purl.obolibrary.org/obo/MONDO_0014978	https://omim.org/entry/617234|UMLS:C4310659	
MONDO:0012316	biolink:Disease	Majeed syndrome	Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis.	Orphanet:77297|UMLS:C1864997|SCTID:703540008|OMIM:609628|NCIT:C119058|GARD:0010088|MedDRA:10072223|MESH:C537839|ICD9:759.89	mondo.json	chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic Anemia, and neutrophilic dermatosis|Majeed syndrome|congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis|MAJEED syndrome|dyserythropoietic anemia, and neutrophilic dermatosis|MJDS|chronic recurrent multifocal osteomyelitis, congenital|chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome|CDA and CRMO	http://purl.obolibrary.org/obo/MONDO_0012316	http://identifiers.org/snomedct/703540008|http://identifiers.org/mesh/C537839|Orphanet:77297|https://omim.org/entry/609628|NCIT:C119058|UMLS:C1864997	gard_rare|ordo_disease
MONDO:0014977	biolink:Disease	autosomal recessive limb-girdle muscular dystrophy type 2R1	An autosomal recessive condition caused by pathogenic variant(s) of the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. A characteristic finding of “inside-to-outside” fatty degeneration on muscle imaging has been noted in patients.	Orphanet:480682|NCIT:C142082|UMLS:C4310660|OMIM:617232|UMLS:CN776834	mondo.json	muscular dystrophy, limb-girdle, autosomal recessive 21|autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1|LGMD2Z|muscular dystrophy, limb-girdle, type 2Z|autosomal recessive limb-girdle muscular dystrophy type 2Z|POGLUT1 autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy type 2Z	http://purl.obolibrary.org/obo/MONDO_0014977	https://omim.org/entry/617232|Orphanet:480682|NCIT:C142082|UMLS:CN776834|UMLS:C4310660	ordo_disease
MONDO:0014976	biolink:Disease	lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.	UMLS:C4310661|Orphanet:478049|OMIM:617228|DOID:0111488	mondo.json	combined oxidative phosphorylation deficiency caused by mutation in MIPEP|combined oxidative phosphorylation deficiency type 31|COXPD31|combined oxidative phosphorylation deficiency 31|MIPEP combined oxidative phosphorylation deficiency	http://purl.obolibrary.org/obo/MONDO_0014976	https://omim.org/entry/617228|DOID:0111488|Orphanet:478049|UMLS:C4310661	ordo_disease
MONDO:0012313	biolink:Disease	short QT syndrome type 2	Any short QT syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.	OMIM:609621|MESH:C566505|UMLS:C1865019	mondo.json	KCNQ1 short QT syndrome|SQT2|short QT syndrome type 2|short QT syndrome caused by mutation in KCNQ1|short QT syndrome 2	http://purl.obolibrary.org/obo/MONDO_0012313	http://identifiers.org/mesh/C566505|UMLS:C1865019|https://omim.org/entry/609621	
MONDO:0012314	biolink:Disease	short QT syndrome type 3	Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene.	UMLS:C1865018|OMIM:609622|MESH:C566504	mondo.json	short QT syndrome caused by mutation in KCNJ2|SQT3|short QT syndrome type 3|short QT syndrome 3|KCNJ2 short QT syndrome	http://purl.obolibrary.org/obo/MONDO_0012314	http://identifiers.org/mesh/C566504|UMLS:C1865018|https://omim.org/entry/609622	
MONDO:0014975	biolink:Disease	autosomal recessive spastic paraplegia type 78	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene.	UMLS:C4310662|Orphanet:513436|OMIM:617225	mondo.json	ATP13A2 hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in ATP13A2|SPG78|spastic paraplegia 78, autosomal recessive; SPG78|spastic paraplegia 78, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0014975	Orphanet:513436|UMLS:C4310662|https://omim.org/entry/617225	ordo_disease
NCIT:C16150	biolink:NamedThing	Estrogen Receptor Status			mondo.json		http://purl.obolibrary.org/obo/NCIT_C16150		http://purl.obolibrary.org/obo/NCIT_C159413|http://purl.obolibrary.org/obo/NCIT_C116977|http://purl.obolibrary.org/obo/NCIT_C156952|http://purl.obolibrary.org/obo/NCIT_C156953|http://purl.obolibrary.org/obo/NCIT_C142800|http://purl.obolibrary.org/obo/NCIT_C142799
MONDO:0000339	biolink:Disease	spinal polio	A paralytic poliomyelitis in which the site of paralysis is the spinal cord.	DOID:0050513	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000339	DOID:0050513	
MONDO:0000338	biolink:Disease	variola major infectious disease		ICD9:050.0|SCTID:47452006|DOID:0050508|UMLS:C1812609	mondo.json	variola major	http://purl.obolibrary.org/obo/MONDO_0000338	DOID:0050508|UMLS:C1812609|http://identifiers.org/snomedct/47452006	
MONDO:0014970	biolink:Disease	spermatogenic failure 17	Any azoospermia in which the cause of the disease is a mutation in the PLCZ1 gene.	OMIM:617214|DOID:0070174|UMLS:C4310666	mondo.json	SPGF17|spermatogenic failure 17|spermatogenic failure type 17|PLCZ1 azoospermia|Male infertility due to oocyte Activation failure|azoospermia caused by mutation in PLCZ1|spermatogenic failure 17; SPGF17	http://purl.obolibrary.org/obo/MONDO_0014970	DOID:0070174|UMLS:C4310666|https://omim.org/entry/617214	
NCIT:C16152	biolink:NamedThing	HER2/Neu Status			mondo.json		http://purl.obolibrary.org/obo/NCIT_C16152		http://purl.obolibrary.org/obo/NCIT_C116977|http://purl.obolibrary.org/obo/NCIT_C142800|http://purl.obolibrary.org/obo/NCIT_C142799
GO:0099531	biolink:NamedThing	presynaptic process involved in chemical synaptic transmission	The pathway leading to secretion of a neurotransmitter from the presynapse as part of synaptic transmission.		mondo.json		http://purl.obolibrary.org/obo/GO_0099531		
GO:1903353	biolink:NamedThing	regulation of nucleus organization	Any process that modulates the frequency, rate or extent of nucleus organization.		mondo.json	regulation of nuclear organization|regulation of nuclear organisation|regulation of nuclear organization and biogenesis|regulation of nuclear morphology|regulation of nucleus organization and biogenesis	http://purl.obolibrary.org/obo/GO_1903353		
GO:0051590	biolink:NamedThing	positive regulation of neurotransmitter transport	Any process that activates or increases the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	up regulation of neurotransmitter transport|stimulation of neurotransmitter transport|up-regulation of neurotransmitter transport|activation of neurotransmitter transport|upregulation of neurotransmitter transport	http://purl.obolibrary.org/obo/GO_0051590		
GO:0099537	biolink:NamedThing	trans-synaptic signaling	Cell-cell signaling in either direction across the synaptic cleft.		mondo.json		http://purl.obolibrary.org/obo/GO_0099537		
GO:0099536	biolink:NamedThing	synaptic signaling	Cell-cell signaling to, from or within a synapse.		mondo.json		http://purl.obolibrary.org/obo/GO_0099536		
MONDO:0002900	biolink:Disease	cerebral neuroblastoma	A neuroblastoma arising from the cerebral hemispheres.	SCTID:281560004|NCIT:C4826|DOID:4164|UMLS:C0559458	mondo.json	neuroblastoma of cerebral hemispheres|neuroblastoma of the cerebral hemispheres|neuroblastoma of the cerebrum|neuroblastoma of the cerebral hemisphere|neuroblastoma of brain|neuroblastoma of telencephalon|cerebral neuroblastoma, PNET|cerebral neuroblastoma|neuroblastoma of cerebrum|telencephalon neuroblastoma|cerebral hemispheric neuroblastoma|central nervous system neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0002900	UMLS:C0559458|NCIT:C4826|http://identifiers.org/snomedct/281560004|DOID:4164	
NCBITaxon:61172	biolink:OrganismalEntity				mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_61172		
HGNC:6404	biolink:NamedThing	KPTN			mondo.json		http://identifiers.org/hgnc/6404		
HGNC:6407	biolink:NamedThing	KRAS			mondo.json		http://identifiers.org/hgnc/6407		
GO:0002637	biolink:NamedThing	regulation of immunoglobulin production	Any process that modulates the frequency, rate, or extent of immunoglobulin production.		mondo.json	regulation of antibody production|regulation of immunoglobulin secretion|regulation of immunoglobulin biosynthetic process	http://purl.obolibrary.org/obo/GO_0002637		
CHEBI:51570	biolink:ChemicalSubstance	biotins	Compounds containing a biotin (5-[(3aS,4S,6aR)-2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl]pentanoic acid) skeleton.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_51570		
GO:0002638	biolink:NamedThing	negative regulation of immunoglobulin production	Any process that stops, prevents, or reduces the frequency, rate, or extent of immunoglobulin production.		mondo.json	negative regulation of immunoglobulin secretion|down-regulation of immunoglobulin production|down regulation of immunoglobulin production|inhibition of immunoglobulin production|downregulation of immunoglobulin production|negative regulation of immunoglobulin biosynthetic process	http://purl.obolibrary.org/obo/GO_0002638		
GO:0002639	biolink:NamedThing	positive regulation of immunoglobulin production	Any process that activates or increases the frequency, rate, or extent of immunoglobulin production.		mondo.json	stimulation of immunoglobulin production|upregulation of immunoglobulin production|positive regulation of immunoglobulin secretion|positive regulation of immunoglobulin biosynthetic process|up-regulation of immunoglobulin production|up regulation of immunoglobulin production|activation of immunoglobulin production	http://purl.obolibrary.org/obo/GO_0002639		
GO:0099547	biolink:NamedThing	regulation of translation at synapse, modulating synaptic transmission	Any process that modulates synaptic transmission by regulating translation occurring at the synapse.		mondo.json		http://purl.obolibrary.org/obo/GO_0099547		
GO:0099512	biolink:NamedThing	supramolecular fiber	A polymer consisting of an indefinite number of protein or protein complex subunits that have polymerised to form a fiber-shaped structure.		mondo.json	fibril	http://purl.obolibrary.org/obo/GO_0099512		
HGNC:6408	biolink:NamedThing	MAFB			mondo.json		http://identifiers.org/hgnc/6408		
HGNC:6412	biolink:NamedThing	KRT1			mondo.json		http://identifiers.org/hgnc/6412		
HGNC:6413	biolink:NamedThing	KRT10			mondo.json		http://identifiers.org/hgnc/6413		
HGNC:6414	biolink:NamedThing	KRT12			mondo.json		http://identifiers.org/hgnc/6414		
HGNC:6415	biolink:NamedThing	KRT13			mondo.json		http://identifiers.org/hgnc/6415		
HGNC:6416	biolink:NamedThing	KRT14			mondo.json		http://identifiers.org/hgnc/6416		
GO:0099513	biolink:NamedThing	polymeric cytoskeletal fiber	A component of the cytoskeleton consisting of a homo or heteropolymeric fiber constructed from an indeterminate number of protein subunits.		mondo.json		http://purl.obolibrary.org/obo/GO_0099513		
GO:0099522	biolink:NamedThing	cytosolic region	Any (proper) part of the cytosol of a single cell of sufficient size to still be considered cytosol.		mondo.json	region of cytosol	http://purl.obolibrary.org/obo/GO_0099522		
GO:0099523	biolink:NamedThing	presynaptic cytosol	The region of the cytosol consisting of all cytosol that is part of the presynapse.		mondo.json		http://purl.obolibrary.org/obo/GO_0099523		
GO:1903379	biolink:NamedThing	regulation of mitotic chromosome condensation	Any process that modulates the frequency, rate or extent of mitotic chromosome condensation.		mondo.json		http://purl.obolibrary.org/obo/GO_1903379		
HGNC:6423	biolink:NamedThing	KRT16			mondo.json		http://identifiers.org/hgnc/6423		
UBERON:0035505	biolink:AnatomicalEntity	right inguinal part of abdomen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035505		
UBERON:0035508	biolink:AnatomicalEntity	branch of posterior cerebral artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035508		
HGNC:6427	biolink:NamedThing	KRT17			mondo.json		http://identifiers.org/hgnc/6427		
GO:1903380	biolink:NamedThing	positive regulation of mitotic chromosome condensation	Any process that activates or increases the frequency, rate or extent of mitotic chromosome condensation.		mondo.json	up-regulation of mitotic chromosome condensation|up regulation of mitotic chromosome condensation|activation of mitotic chromosome condensation|upregulation of mitotic chromosome condensation	http://purl.obolibrary.org/obo/GO_1903380		
NCBITaxon:4892	biolink:OrganismalEntity	Saccharomycetales		GC_ID:1	mondo.json	budding yeasts|Endomycetales	http://purl.obolibrary.org/obo/NCBITaxon_4892		
NCBITaxon:4893	biolink:OrganismalEntity	Saccharomycetaceae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_4893		
NCBITaxon:4890	biolink:OrganismalEntity	Ascomycota		GC_ID:1|PMID:17572334	mondo.json	sac fungi|ascomycetes|ascomycete fungi	http://purl.obolibrary.org/obo/NCBITaxon_4890		
NCBITaxon:4891	biolink:OrganismalEntity	Saccharomycetes		GC_ID:1	mondo.json	Hemiascomycetes	http://purl.obolibrary.org/obo/NCBITaxon_4891		
GO:0099529	biolink:NamedThing	neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential	Neurotransmitter receptor activity occurring in the postsynaptic membrane that is involved in regulating postsynaptic membrane potential, either directly (ionotropic receptors) or indirectly (e.g. via GPCR activation of an ion channel).		mondo.json		http://purl.obolibrary.org/obo/GO_0099529		
GO:0099524	biolink:NamedThing	postsynaptic cytosol	The region of the cytosol consisting of all cytosol that is part of the postsynapse.		mondo.json		http://purl.obolibrary.org/obo/GO_0099524		
MONDO:0002930	biolink:Disease	kidney sarcoma	A sarcoma involving a kidney.	UMLS:C0346251|NCIT:C4525|SCTID:254918001|ICD9:189.0|DOID:4242	mondo.json	renal sarcoma|sarcoma of kidney|sarcoma of the kidney|kidney sarcoma	http://purl.obolibrary.org/obo/MONDO_0002930	NCIT:C4525|UMLS:C0346251|DOID:4242|http://identifiers.org/snomedct/254918001	
GO:0099577	biolink:NamedThing	regulation of translation at presynapse, modulating synaptic transmission	Any process that modulates synaptic transmission by regulating translation occurring at the presynapse.		mondo.json		http://purl.obolibrary.org/obo/GO_0099577		
GO:0099578	biolink:NamedThing	regulation of translation at postsynapse, modulating synaptic transmission	Any process that modulates synaptic transmission by regulating translation occurring at the postsynapse.		mondo.json		http://purl.obolibrary.org/obo/GO_0099578		
MONDO:0002931	biolink:Disease	conjunctivochalasis		DOID:4250|UMLS:C0878693|SCTID:408663001|ICD9:372.81	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002931	DOID:4250|http://identifiers.org/snomedct/408663001|UMLS:C0878693	
MONDO:0002932	biolink:Disease	obsolete conjunctival disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002932		
MONDO:0002933	biolink:Disease	osteosclerosis	Abnormally high bone density.	MESH:D010026|NCIT:C41236|UMLS:C0029464|SCTID:49347007|DOID:4254	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002933	NCIT:C41236|UMLS:C0029464|DOID:4254|http://identifiers.org/mesh/D010026|http://identifiers.org/snomedct/49347007	
HP:0011730	biolink:PhenotypicFeature	Abnormal central sensory function	An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord.	UMLS:C4023215	mondo.json	Abnormality of central sensory function	http://purl.obolibrary.org/obo/HP_0011730		
GO:0099571	biolink:NamedThing	postsynaptic cytoskeleton	The portion of the cytoskeleton contained within the postsynapse.		mondo.json		http://purl.obolibrary.org/obo/GO_0099571		
MONDO:0014916	biolink:Disease	developmental and epileptic encephalopathy, 41	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene.	OMIM:617105|UMLS:C4310717|DOID:0080442	mondo.json	epileptic encephalopathy, early infantile, type 41|developmental and epileptic encephalopathy 41|epileptic encephalopathy, early infantile, 41; EIEE41|SLC1A2 early infantile epileptic encephalopathy|developmental and epileptic encephalopathy, 41|early infantile epileptic encephalopathy caused by mutation in SLC1A2|epileptic encephalopathy, early infantile, 41|EIEE41|DEE41	http://purl.obolibrary.org/obo/MONDO_0014916	https://omim.org/entry/617105|UMLS:C4310717|DOID:0080442	
HGNC:25088	biolink:NamedThing	SGO1			mondo.json		http://identifiers.org/hgnc/25088		
MONDO:0014915	biolink:Disease	short-rib thoracic dysplasia 16 with or without polydactyly		UMLS:C4310718|OMIM:617102	mondo.json	short-rib thoracic dysplasia 16 with or without polydactyly|short-rib thoracic dysplasia 16 with or without polydactyly; SRTD16|SRTD16	http://purl.obolibrary.org/obo/MONDO_0014915	UMLS:C4310718|https://omim.org/entry/617102	
MONDO:0014914	biolink:Disease	Dias-Logan syndrome	Any BAFopathy in which the cause of the disease is a mutation in the BCL11A gene.	OMIM:617101|UMLS:C4310833	mondo.json	Dias-Logan syndrome|BCL11A-related intellectual developmental disorder with persistence of fetal hemoglobin|BCL11A-related BAFopathy|DILOS|Dias-Logan syndrome; DILOS|intellectual developmental disorder with hereditary persistence of fetal Hemoglobin|intellectual developmental disorder with persistence of fetal Hemoglobin|intellectual developmental disorder with persistence of fetal HEMOGLOBIN	http://purl.obolibrary.org/obo/MONDO_0014914	UMLS:C4310833|https://omim.org/entry/617101	
MONDO:0014913	biolink:Disease	obsolete MONDO:0014913			mondo.json		http://purl.obolibrary.org/obo/MONDO_0014913		
MONDO:0014919	biolink:Disease	sessile serrated polyposis cancer syndrome		UMLS:C4310714|OMIM:617108	mondo.json	sessile serrated polyposis cancer syndrome; SSPCS|sessile serrated polyposis cancer syndrome|SSPCS	http://purl.obolibrary.org/obo/MONDO_0014919	UMLS:C4310714|https://omim.org/entry/617108	
MONDO:0014918	biolink:Disease	tall stature-intellectual disability-renal anomalies syndrome		UMLS:C4310715|Orphanet:500095|OMIM:617107	mondo.json	Thauvin-robinet-Faivre syndrome|TROFAS|THAUVIN-robinet-Faivre syndrome	http://purl.obolibrary.org/obo/MONDO_0014918	UMLS:C4310715|https://omim.org/entry/617107|Orphanet:500095	ordo_malformation_syndrome
MONDO:0014917	biolink:Disease	developmental and epileptic encephalopathy, 42	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene.	OMIM:617106|UMLS:C4310716|DOID:0080454	mondo.json	developmental and epileptic encephalopathy 42|epileptic encephalopathy, early infantile, type 42|epileptic encephalopathy, early infantile, 42; EIEE42|CACNA1A early infantile epileptic encephalopathy|EIEE42|DEE42|early infantile epileptic encephalopathy caused by mutation in CACNA1A|epileptic encephalopathy, early infantile, 42	http://purl.obolibrary.org/obo/MONDO_0014917	UMLS:C4310716|DOID:0080454|https://omim.org/entry/617106	
MONDO:0014923	biolink:Disease	peeling skin syndrome 5	Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene.	UMLS:C4310710|OMIM:617115	mondo.json	peeling skin syndrome caused by mutation in SERPINB8|peeling skin syndrome 5; PSS5|peeling skin syndrome type 5|SERPINB8 peeling skin syndrome|PSS5|peeling skin syndrome 5	http://purl.obolibrary.org/obo/MONDO_0014923	UMLS:C4310710|https://omim.org/entry/617115	
MONDO:0014922	biolink:Disease	myofibrillar myopathy 7	Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene.	UMLS:C4310711|OMIM:617114|DOID:0080098	mondo.json	MFM7|myofibrillar myopathy (disease) caused by mutation in KY|myopathy, myofibrillar, type 7|KY myofibrillar myopathy (disease)|alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy|myopathy, myofibrillar, 7	http://purl.obolibrary.org/obo/MONDO_0014922	UMLS:C4310711|DOID:0080098|https://omim.org/entry/617114	
MONDO:0014921	biolink:Disease	developmental and epileptic encephalopathy, 43	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene.	DOID:0080447|UMLS:C4310712|OMIM:617113	mondo.json	epileptic encephalopathy, early infantile, 43; EIEE43|developmental and epileptic encephalopathy 43|early infantile epileptic encephalopathy caused by mutation in GABRB3|epileptic encephalopathy, early infantile, 43|GABRB3 early infantile epileptic encephalopathy|EIEE43|DEE43|epileptic encephalopathy, early infantile, type 43	http://purl.obolibrary.org/obo/MONDO_0014921	UMLS:C4310712|https://omim.org/entry/617113|DOID:0080447	
HGNC:6439	biolink:NamedThing	KRT2			mondo.json		http://identifiers.org/hgnc/6439		
MONDO:0014920	biolink:Disease	patterned macular dystrophy 3	Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene.	OMIM:617111|Orphanet:466718|UMLS:C4310713|ICD10CM:H35.5|DOID:0060865	mondo.json	MCRPE|MAPKAPK3 patterned macular dystrophy|patterned macular dystrophy type 3|MDPT3|macular dystrophy, patterned, type 3|Martinique crinkled retinal pigment epitheliopathy|macular dystrophy, patterned, 3|patterned macular dystrophy caused by mutation in MAPKAPK3	http://purl.obolibrary.org/obo/MONDO_0014920	UMLS:C4310713|https://omim.org/entry/617111|Orphanet:466718|DOID:0060865	ordo_disease
MONDO:0600030	biolink:Disease	B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)	A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults.	Orphanet:585956|DOID:0080649|NCIT:C80347|SCTID:450956008	mondo.json	B-lymphoblastic leukemia/lymphoma with TCF3-PBX1|B lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) (morphologic abnormality)|B acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)|B-acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)|B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)	http://purl.obolibrary.org/obo/MONDO_0600030	http://identifiers.org/snomedct/450956008|NCIT:C80347|DOID:0080649|Orphanet:585956	
MONDO:0002927	biolink:Disease	spindle cell sarcoma	A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas.	NCIT:C27005|ICDO:8801/3|UMLS:C0205945|DOID:4235	mondo.json	spindle cell sarcoma	http://purl.obolibrary.org/obo/MONDO_0002927	NCIT:C27005|UMLS:C0205945|DOID:4235	
HP:0011733	biolink:PhenotypicFeature	Abnormality of adrenal physiology	A functional abnormality of the adrenal glands.	UMLS:C4023212	mondo.json		http://purl.obolibrary.org/obo/HP_0011733		
MONDO:0002928	biolink:Disease	carcinosarcoma	A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements.	UMLS:C1334603|UMLS:C0007140|UMLS:C0206627|NCIT:C34448|ICDO:8980/3|MESH:D002296|DOID:4236|GARD:0006966	mondo.json	malignant mixed mesodermal (mullerian) tumor|carcinosarcoma|mullerian mixed tumor (morphologic abnormality)|mixed tumor, Mullerian|mullerian mixed tumor|malignant mixed Mullerian tumor|mixed mesodermal (mullerian) tumor|carcinosarcoma, malignant|mesodermal mixed tumor (morphologic abnormality)|mixed Mullerian tumor|MMMT|mesodermal mixed tumor	http://purl.obolibrary.org/obo/MONDO_0002928	http://identifiers.org/mesh/D002296|UMLS:C1334603|NCIT:C34448|DOID:4236|UMLS:C0206627|UMLS:C0007140	
CHEBI:38560	biolink:ChemicalSubstance	simple protein			mondo.json	simple proteins	http://purl.obolibrary.org/obo/CHEBI_38560		
MONDO:0002929	biolink:Disease	pulmonary immaturity		DOID:424|SCTID:42908004|ICD9:770.4	mondo.json	primary atelectasis of newborn|primary atelectasis, in perinatal period	http://purl.obolibrary.org/obo/MONDO_0002929	http://identifiers.org/snomedct/42908004|DOID:424	
MONDO:0002923	biolink:Disease	uterine corpus endometrial stromal sarcoma	A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma.	NCIT:C40219|DOID:4227|UMLS:C1519849	mondo.json	uterine corpus endometrial stromal sarcoma|body of uterus endometrioid stromal sarcoma|endometrioid stromal sarcoma of body of uterus|uterine corpus ess|uterine corpus endometrial stromal tumor|body of uterus endometrial stromal sarcoma	http://purl.obolibrary.org/obo/MONDO_0002923	UMLS:C1519849|NCIT:C40219|DOID:4227	
MONDO:0002924	biolink:Disease	smooth muscle cancer	A malignant neoplasm arising from smooth muscle.	DOID:4230|UMLS:C1334620|NCIT:C6511	mondo.json	malignant neoplasm of smooth muscle|malignant smooth muscle tumor|malignant tumor of the smooth muscle|smooth muscle cancer|cancer of the smooth muscle|cancer of smooth muscle|malignant smooth muscle neoplasm|malignant tumor of smooth muscle|malignant neoplasm of the smooth muscle	http://purl.obolibrary.org/obo/MONDO_0002924	NCIT:C6511|UMLS:C1334620|DOID:4230	
MONDO:0002925	biolink:Disease	obsolete extraosseous Ewing's sarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002925		
MONDO:0002926	biolink:Disease	clear cell sarcoma	A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases.	DOID:4233|ONCOTREE:CCS|NCIT:C3745|SCTID:402561003|EFO:0008498|ICDO:9044/3|UMLS:C0206651|MESH:D018227|ICD9:171.9	mondo.json	clear cell sarcoma (morphologic abnormality)|clear cell sarcoma of soft tissue|clear cell sarcoma of soft parts|malignant melanoma of the soft parts|clear cell sarcoma - not kidney|melanoma, malignant, of soft parts|adult soft part clear cell sarcoma|chordoid sarcoma|malignant melanoma of soft tissues|clear cell sarcoma/malignant melanoma of soft parts (excluding clear cell sarcoma of the kidney)|malignant melanoma of soft parts	http://purl.obolibrary.org/obo/MONDO_0002926	http://identifiers.org/mesh/D018227|http://identifiers.org/snomedct/402561003|NCIT:C3745|DOID:4233|UMLS:C0206651	
MONDO:0002941	biolink:Disease	anal margin carcinoma	A carcinoma that arises from epithelial cells of the perianal skin	NCIT:C7472|DOID:4284|UMLS:C0349534	mondo.json	carcinoma of anal margin|anal margin carcinoma|carcinoma of the anal margin|perianal skin carcinoma|carcinoma of perianal skin|anal margin cancer	http://purl.obolibrary.org/obo/MONDO_0002941	DOID:4284|NCIT:C7472|UMLS:C0349534	
MONDO:0002942	biolink:Disease	sebaceous basal cell carcinoma		DOID:4286	mondo.json	skin basosebaceous basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002942	DOID:4286	
MONDO:0002943	biolink:Disease	external ear basal cell carcinoma	A basal cell carcinoma that arises from the skin of the external ear.	UMLS:C1333491|NCIT:C6082|DOID:4287	mondo.json	external Ear basal cell carcinoma|basal cell carcinoma of external Ear|basal cell external ear carcinoma|basal cell carcinoma of the external Ear|skin basal cell carcinoma of external ear|basal cell carcinoma of the external ear|external ear skin basal cell carcinoma|basal cell carcinoma of external ear	http://purl.obolibrary.org/obo/MONDO_0002943	UMLS:C1333491|DOID:4287|NCIT:C6082	
MONDO:0002944	biolink:Disease	external ear carcinoma	A carcinoma that arises from epithelial cells of the external ear	UMLS:C1333492|NCIT:C6081|DOID:4288	mondo.json	external Ear carcinoma|external ear carcinoma|carcinoma of external ear|carcinoma of external Ear|carcinoma of the external Ear|carcinoma of the external ear	http://purl.obolibrary.org/obo/MONDO_0002944	UMLS:C1333492|DOID:4288|NCIT:C6081	
MONDO:0002940	biolink:Disease	anal margin basal cell carcinoma	A basal cell carcinoma arising from the perianal skin. Local excision is the treatment of choice. Metastases are extremely rare.	UMLS:C1332269|NCIT:C7473|DOID:4283	mondo.json	basal cell carcinoma of perianal skin|perianal skin skin basal cell carcinoma|basal cell carcinoma of anal margin|basal cell carcinoma of the perianal skin|basal cell carcinoma of the anal margin|anal margin basal cell carcinoma|skin basal cell carcinoma of perianal skin|perianal skin basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002940	UMLS:C1332269|DOID:4283|NCIT:C7473	
MONDO:0014905	biolink:Disease	encephalopathy due to defective mitochondrial and peroxisomal fission 2		UMLS:C4310726|OMIM:617086|Orphanet:485421	mondo.json	Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome|encephalopathy due to defective mitochondrial and peroxisomal fission type 2|MFF-associated encephalopathy due to peroxisomal and mitochondrial fission defect|EMPF2|encephalopathy due to defective mitochondrial and peroxisomal fission 2	http://purl.obolibrary.org/obo/MONDO_0014905	Orphanet:485421|UMLS:C4310726|https://omim.org/entry/617086	ordo_malformation_syndrome
MONDO:0014904	biolink:Disease	congenital disorder of glycosylation, type IAA		UMLS:C4310727|DOID:0080553|OMIM:617082	mondo.json	congenital disorder of glycosylation, type IAA|CDG1AA|congenital disorder of glycosylation, type 1aa|congenital disorder of glycosylation, type IAA; CDG1AA	http://purl.obolibrary.org/obo/MONDO_0014904	https://omim.org/entry/617082|UMLS:C4310727|DOID:0080553	
CHEBI:26596	biolink:ChemicalSubstance	salicylates	Any salt or ester arising from reaction of the carboxy group of salicylic acid, or any ester resulting from the condensation of the phenolic hydroxy group of salicylic acid with an organic acid.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_26596		
MONDO:0014903	biolink:Disease	seizures, benign familial infantile, 5	Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene.	UMLS:C4310728|OMIM:617080	mondo.json	convulsions, benign familial infantile, 5|seizures, benign familial infantile, 5|benign familial infantile epilepsy caused by mutation in SCN8A|seizures, benign familial infantile, type 5|BFIS5|seizures, benign familial infantile, 5; BFIS5|SCN8A benign familial infantile epilepsy	http://purl.obolibrary.org/obo/MONDO_0014903	UMLS:C4310728|https://omim.org/entry/617080	
MONDO:0014902	biolink:Disease	nasopharyngeal carcinoma, susceptibility to, 3	Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the MST1R gene.	OMIM:617075	mondo.json	nasopharyngeal carcinoma caused by mutation in MST1R|susceptibility to nasopharyngeal carcinoma 3|NPCA3|nasopharyngeal carcinoma, susceptibility to, 3; NPCA3|nasopharyngeal carcinoma, susceptibility to, type 3|MST1R nasopharyngeal carcinoma|nasopharyngeal carcinoma, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0014902	https://omim.org/entry/617075	predisposition
MONDO:0014909	biolink:Disease	primary ciliary dyskinesia 34	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAJB13 gene.	OMIM:617091|DOID:0110610|UMLS:C4310722	mondo.json	primary ciliary dyskinesia 34 without situs inversus|ciliary dyskinesia, primary, 34|ciliary dyskinesia, primary, 34, without situs inversus|DNAJB13 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 34|primary ciliary dyskinesia caused by mutation in DNAJB13|CILD34|primary ciliary dyskinesia type 34	http://purl.obolibrary.org/obo/MONDO_0014909	DOID:0110610|UMLS:C4310722|https://omim.org/entry/617091	
MONDO:0014908	biolink:Disease	microcephaly 17, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CIT gene.	DOID:0070288|OMIM:617090|UMLS:C4310723	mondo.json	microcephaly 17, primary, autosomal recessive; MCPH17|autosomal recessive primary microcephaly caused by mutation in CIT|autosomal recessive primary microcephaly caused by mutation in cit|microcephaly 17, primary, autosomal recessive|CIT autosomal recessive primary microcephaly|MCPH17|cit autosomal recessive primary microcephaly	http://purl.obolibrary.org/obo/MONDO_0014908	DOID:0070288|UMLS:C4310723|https://omim.org/entry/617090	
MONDO:0014907	biolink:Disease	short-rib thoracic dysplasia 15 with polydactyly		UMLS:C4310724|OMIM:617088	mondo.json	SRTD15|short-rib thoracic dysplasia 15 with polydactyly; SRTD15|short-rib thoracic dysplasia 15 with polydactyly	http://purl.obolibrary.org/obo/MONDO_0014907	UMLS:C4310724|https://omim.org/entry/617088	
MONDO:0014906	biolink:Disease	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;	An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A.	DOID:0111557|UMLS:C4310725|OMIM:617087|NCIT:C150647	mondo.json	Charcot-Marie-Tooth disease, axonal, type 2A2B|CMT2A2B|Charcot-Marie-Tooth disease type 2A2B|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	http://purl.obolibrary.org/obo/MONDO_0014906	DOID:0111557|UMLS:C4310725|https://omim.org/entry/617087|NCIT:C150647	
HGNC:6444	biolink:NamedThing	KRT6B			mondo.json		http://identifiers.org/hgnc/6444		
HGNC:6447	biolink:NamedThing	KRT9			mondo.json		http://identifiers.org/hgnc/6447		
MONDO:0014912	biolink:Disease	infantile-onset periodic fever-panniculitis-dermatosis syndrome		GARD:0013198|SCTID:765435009|UMLS:C4310614|Orphanet:500062|OMIM:617099|DOID:0080163	mondo.json	ORAS|otulin-related autoinflammatory syndrome|autoinflammation, panniculitis and dermatosis syndrome|Autoinflammation, panniculitis, and dermatosis syndrome|otulin deficiency|AUTOINFLAMMATION, panniculitis, and dermatosis syndrome|otulipenia|AIPDS	http://purl.obolibrary.org/obo/MONDO_0014912	http://identifiers.org/snomedct/765435009|UMLS:C4310614|DOID:0080163|https://omim.org/entry/617099|Orphanet:500062	ordo_disease|gard_rare
MONDO:0014911	biolink:Disease	growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss.	OMIM:617093|EFO:0009155|UMLS:C4310720|Orphanet:541423	mondo.json	GRIDHH|growth retardation, impaired intellectual development, hypotonia, and hepatopathy|Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy|growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; GRIDHH	http://purl.obolibrary.org/obo/MONDO_0014911	UMLS:C4310720|https://omim.org/entry/617093|Orphanet:541423	ordo_disease|clingen
MONDO:0014910	biolink:Disease	primary ciliary dyskinesia 35	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the TTC25 gene.	UMLS:C4310721|OMIM:617092|DOID:0110620	mondo.json	primary ciliary dyskinesia type 35|TTC25 primary ciliary dyskinesia|primary ciliary dyskinesia 35 with or without situs inversus|ciliary dyskinesia, primary, 35, with or without situs inversus|primary ciliary dyskinesia caused by mutation in TTC25|ciliary dyskinesia, primary, 35|CILD35|ciliary dyskinesia, primary, type 35	http://purl.obolibrary.org/obo/MONDO_0014910	UMLS:C4310721|https://omim.org/entry/617092|DOID:0110620	
MONDO:0002938	biolink:Disease	metatypical basal cell carcinoma	A skin carcinoma displaying cytological characteristics intermediate to nodular basal cell carcinoma and squamous cell carcinoma.	ICDO:8095/3|SCTID:254702000|DOID:4281|NCIT:C66903	mondo.json	basosquamous carcinoma of skin|skin metatypical basal cell carcinoma|skin metatypical carcinoma	http://purl.obolibrary.org/obo/MONDO_0002938	NCIT:C66903|http://identifiers.org/snomedct/254702000|DOID:4281	
MONDO:0002939	biolink:Disease	skin pigmented basal cell carcinoma	A basal cell carcinoma that contains large amounts of melanin. The melanin is produced by symbiotic nontumoral proliferating melanocytes. - 2002.	SCTID:403909004|UMLS:C1368275|DOID:4282|NCIT:C9359	mondo.json	pigmented basal cell carcinoma|skin pigmented basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002939	http://identifiers.org/snomedct/403909004|NCIT:C9359|DOID:4282|UMLS:C1368275	
MONDO:0002934	biolink:Disease	intravascular angioleiomyoma	A morphologic variant of angioleiomyoma characterized by the adherence of neoplastic smooth muscle cells to the walls of vascular channels.	NCIT:C5355|UMLS:C1334267|DOID:4266	mondo.json	intravascular angioleiomyoma|intravascular angiomyoma	http://purl.obolibrary.org/obo/MONDO_0002934	NCIT:C5355|UMLS:C1334267|DOID:4266	
HGNC:6440	biolink:NamedThing	KRT3			mondo.json		http://identifiers.org/hgnc/6440		
HGNC:6441	biolink:NamedThing	KRT4			mondo.json		http://identifiers.org/hgnc/6441		
MONDO:0002935	biolink:Disease	penis basal cell carcinoma	A basal cell carcinoma of the penis with an indolent clinical course. It is usually superficial and arises from the shaft and rarely the glans.	UMLS:C1518949|NCIT:C39961|DOID:4277	mondo.json	penile basal cell carcinoma|skin of penis skin basal cell carcinoma|skin basal cell carcinoma of penis|penile basal cell cancer|basal cell carcinoma of the penis|penis skin basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002935	UMLS:C1518949|NCIT:C39961|DOID:4277	
HGNC:6442	biolink:NamedThing	KRT5			mondo.json		http://identifiers.org/hgnc/6442		
MONDO:0002936	biolink:Disease	scrotum basal cell carcinoma	A scrotal carcinoma that involves the basal cell.	UMLS:C1335934|NCIT:C6386|DOID:4278	mondo.json	basal cell scrotal carcinoma|scrotum skin basal cell carcinoma|skin basal cell carcinoma of scrotum|basal cell carcinoma of the scrotum|scrotal basal cell carcinoma|basal cell carcinoma of scrotum	http://purl.obolibrary.org/obo/MONDO_0002936	UMLS:C1335934|DOID:4278|NCIT:C6386	
HP:0011729	biolink:PhenotypicFeature	Abnormality of joint mobility	An abnormality in the range and ease of motion of joints across their normal range.	UMLS:C4023216	mondo.json		http://purl.obolibrary.org/obo/HP_0011729		
MONDO:0002937	biolink:Disease	nodular basal cell carcinoma	A basal cell carcinoma of the skin that often appears as elevated nodules which may become ulcerated.	UMLS:C1304300|NCIT:C5568|DOID:4280|SCTID:403910009	mondo.json	skin solid (nodular) basal cell carcinoma|skin nodulo-ulcerative basal cell carcinoma|Nodulo-ulcerative basal cell carcinoma|circumscribed solid basal cell carcinoma|Rodent Ulcer|basal cell carcinoma, nodular (morphologic abnormality)|basal cell carcinoma, nodular	http://purl.obolibrary.org/obo/MONDO_0002937	NCIT:C5568|UMLS:C1304300|http://identifiers.org/snomedct/403910009|DOID:4280	
HGNC:6443	biolink:NamedThing	KRT6A			mondo.json		http://identifiers.org/hgnc/6443		
MONDO:0002910	biolink:Disease	peroneal neuropathy	Disease involving the common peroneal nerve or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with paralysis of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the fibula is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)	UMLS:C0747533|NCIT:C27596|MESH:D020427|DOID:4201	mondo.json	peroneal neuropathy	http://purl.obolibrary.org/obo/MONDO_0002910	NCIT:C27596|http://identifiers.org/mesh/D020427|DOID:4201|UMLS:C0747533	
MONDO:0002911	biolink:Disease	brain stem glioma	A neuroglial tumor that arises from the brain stem.	NCIT:C8501|SCTID:444545003|UMLS:C0677865|DOID:4202	mondo.json	brainstem neuroglial tumor|brain stem neuroglial tumor|brainstem glioma|diffuse brainstem glioma|brain stem glioma|glioma of brain stem|malignant glioma of brainstem|glioma of the brain stem|brainstem malignant glioma|glioma of the brainstem|glioma of brainstem|brain stem neuroglial neoplasm|brainstem neuroglial neoplasm	http://purl.obolibrary.org/obo/MONDO_0002911	UMLS:C0677865|http://identifiers.org/snomedct/444545003|DOID:4202|NCIT:C8501	
GO:0099550	biolink:NamedThing	trans-synaptic signaling, modulating synaptic transmission	Cell-cell signaling between presynapse and postsynapse, across the synaptic cleft, that modulates the synaptic transmission properties of the synapse.		mondo.json		http://purl.obolibrary.org/obo/GO_0099550		
HGNC:6458	biolink:NamedThing	KRT81			mondo.json		http://identifiers.org/hgnc/6458		
MONDO:0014901	biolink:Disease	tooth agenesis, selective, 8	Any tooth agenesis in which the cause of the disease is a mutation in the WNT10B gene.	OMIM:617073|UMLS:C4310730	mondo.json	tooth agenesis, selective, type 8|tooth agenesis, selective, 8; STHAG8|tooth agenesis, selective, 8|WNT10B tooth agenesis|tooth agenesis caused by mutation in WNT10B|STHAG8	http://purl.obolibrary.org/obo/MONDO_0014901	UMLS:C4310730|https://omim.org/entry/617073	
MONDO:0002909	biolink:Disease	hyperglycemia	Abnormally high level of glucose in the blood.	ICD9:790.6|MESH:D006943|DOID:4195|UMLS:C0020456|SCTID:80394007	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002909	DOID:4195|http://identifiers.org/mesh/D006943|UMLS:C0020456|http://identifiers.org/snomedct/80394007	
MONDO:0014900	biolink:Disease	autosomal recessive limb-girdle muscular dystrophy type 2Y	Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.	SCTID:725907002|DOID:0110289|Orphanet:424261|UMLS:C4310731|OMIM:617072	mondo.json	LGMD2Y|muscular dystrophy, limb-girdle, type 2Y|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1|autosomal recessive muscular dystrophy due to LAP1B deficiency|autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency|muscular dystrophy with progressive weakness, distal contractures and rigid spine|TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, type 2y|muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures	http://purl.obolibrary.org/obo/MONDO_0014900	http://identifiers.org/snomedct/725907002|Orphanet:424261|UMLS:C4310731|https://omim.org/entry/617072|DOID:0110289	ordo_disease
MONDO:0002905	biolink:Disease	mutism	The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with brain diseases or mental disorders. Organic mutism may be associated with damage to the frontal lobe; brain stem; thalamus; and cerebellum. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis.	DOID:4189|MESH:D009155|HP:0002300|UMLS:C0026884	mondo.json	mutism|mutism (disease)	http://purl.obolibrary.org/obo/MONDO_0002905	UMLS:C0026884|http://identifiers.org/mesh/D009155|DOID:4189	
MONDO:0002906	biolink:Disease	obsolete scleroderma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002906		
MONDO:0002907	biolink:Disease	intracranial thrombosis	Formation or presence of a blood clot (thrombus) in a blood vessel within the skull. Intracranial thrombosis can lead to thrombotic occlusions and brain infarction. The majority of the thrombotic occlusions are associated with atherosclerosis.	SCTID:71444005|UMLS:C0752143|ICD9:434.00|MESH:D020767|DOID:4193|ICD9:434.0	mondo.json	cerebral thrombosis	http://purl.obolibrary.org/obo/MONDO_0002907	DOID:4193|http://identifiers.org/snomedct/71444005|http://identifiers.org/mesh/D020767|UMLS:C0752143	
MONDO:0002908	biolink:Disease	glucose metabolism disease	A metabolic disorder characterized by abnormal blood glucose levels.	ICD9:271.8|MESH:D044882|SCTID:126877002|UMLS:C1257958|DOID:4194|NCIT:C53655	mondo.json	glucose metabolism disorder|disorder of glucose metabolism	http://purl.obolibrary.org/obo/MONDO_0002908	DOID:4194|http://identifiers.org/snomedct/126877002|UMLS:C1257958|NCIT:C53655|http://identifiers.org/mesh/D044882	
MONDO:0002901	biolink:Disease	blood group incompatibility		CSP:0440-3703|DOID:4176|UMLS:C0005806	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002901	UMLS:C0005806|DOID:4176	
MONDO:0002902	biolink:Disease	obsolete pseudohypoparathyroidism			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002902		
MONDO:0002903	biolink:Disease	articulation disorder	A disorder characterized by the failure to use developmentally expected speech sounds that are appropriate for the individual's age (i.e., the individual makes errors in sound production or use or omits sounds such as final consonants).	MESH:D001184|SCTID:386701004|NCIT:C92564|DOID:4186|ICD9:315.39	mondo.json	articulation impairment|phonological disorder	http://purl.obolibrary.org/obo/MONDO_0002903	NCIT:C92564|http://identifiers.org/snomedct/386701004|http://identifiers.org/mesh/D001184|DOID:4186	
MONDO:0002904	biolink:Disease	echolalia	A symptom of neurologic or psychiatric dysfunction in which the individual involuntarily and meaninglessly repeats a recently heard word, series of words, or a song.	DOID:4188|HP:0010529|MESH:D004454	mondo.json	echolalia|echolalia (disease)	http://purl.obolibrary.org/obo/MONDO_0002904	http://identifiers.org/mesh/D004454|DOID:4188	
MONDO:0002920	biolink:Disease	malignant ovarian Brenner tumor	A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the neoplasm is confined to the ovary, the prognosis is good.	EFO:1000357|ICDO:9000/3|DOID:4217|NCIT:C4270|UMLS:C0334495	mondo.json	malignant Brenner tumor of ovary|ovarian Brenner tumor, malignant|malignant ovarian Brenner tumor|malignant Brenner tumor of the ovary	http://purl.obolibrary.org/obo/MONDO_0002920	NCIT:C4270|UMLS:C0334495|DOID:4217	
MONDO:0002921	biolink:Disease	congenital structural myopathy	A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.	DOID:422|MESH:D020914|NCIT:C84648|UMLS:C0752282	mondo.json	centronuclear myopathy	http://purl.obolibrary.org/obo/MONDO_0002921	NCIT:C84648|http://identifiers.org/mesh/D020914|UMLS:C0752282|DOID:422	
MONDO:0002922	biolink:Disease	pyoderma	Any skin disease that is pyegenic.	ICD9:686.00|MESH:D011711|UMLS:C0034212|ICD9:686.09|ICD9:686.0|DOID:4223|ICD10CM:L08.0|SCTID:70759006	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002922	UMLS:C0034212|DOID:4223|http://purl.bioontology.org/ontology/ICD10CM/L08.0|http://identifiers.org/snomedct/70759006|http://identifiers.org/mesh/D011711	
GO:0099565	biolink:NamedThing	chemical synaptic transmission, postsynaptic	The part of synaptic transmission occurring in the post-synapse: a signal transduction pathway consisting of neurotransmitter receptor activation and its effects on postsynaptic membrane potential and the ionic composition of the postsynaptic cytosol.		mondo.json	postsynaptic process involved in chemical synaptic transmission	http://purl.obolibrary.org/obo/GO_0099565		
HGNC:6469	biolink:NamedThing	KYNU			mondo.json		http://identifiers.org/hgnc/6469		
HGNC:25070	biolink:NamedThing	ACD			mondo.json		http://identifiers.org/hgnc/25070		
MONDO:0002916	biolink:Disease	brainstem intraparenchymal clear cell meningioma	A morphologic variant of meningioma arising from the brain stem. It is characterized by the presence of clear glycogen-rich polygonal cells.	NCIT:C5295|DOID:4209|UMLS:C1332612	mondo.json	brain stem intraparenchymal clear cell meningioma|intraparenchymal clear cell meningioma of the brainstem|intraparenchymal clear cell meningioma of brainstem	http://purl.obolibrary.org/obo/MONDO_0002916	NCIT:C5295|DOID:4209|UMLS:C1332612	
MONDO:0002917	biolink:Disease	disorder of pilosebaceous unit	A disease that involves the pilosebaceous unit.	ICD9:704.9|SCTID:201128002|UMLS:C0554472|MESH:D006201|UMLS:C0018500|DOID:421|NCIT:C34656|ICD9:704.8	mondo.json	pilosebaceous unit disease or disorder|hair/hair follicle diseases|disorder of pilosebaceous unit|disease of pilosebaceous unit|disease or disorder of pilosebaceous unit|hair and hair follicle diseases|pilosebaceous unit disease|hair disorder|hair disease	http://purl.obolibrary.org/obo/MONDO_0002917	http://identifiers.org/mesh/D006201|UMLS:C0018500|http://identifiers.org/snomedct/201128002|DOID:421|NCIT:C34656|UMLS:C0554472	
MONDO:0002918	biolink:Disease	clear cell meningioma	A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells.	ICDO:9538/1|DOID:4210|UMLS:C0431121|EFO:1000180|ONCOTREE:CCM|NCIT:C4722	mondo.json	CCM|clear cell meningioma (morphologic abnormality)|clear cell meningioma	http://purl.obolibrary.org/obo/MONDO_0002918	UMLS:C0431121|NCIT:C4722|DOID:4210	
HGNC:6460	biolink:NamedThing	KRT83			mondo.json		http://identifiers.org/hgnc/6460		
MONDO:0002919	biolink:Disease	posterior cranial fossa meningioma	A meningioma that affects the posterior cranial fossa.	DOID:4211|NCIT:C6775|UMLS:C1335448	mondo.json	posterior cranial fossa meningioma (disease)|meningioma (disease) of posterior cranial fossa|meningioma of posterior cranial fossa|meningioma of the posterior cranial fossa	http://purl.obolibrary.org/obo/MONDO_0002919	NCIT:C6775|UMLS:C1335448|DOID:4211	
MONDO:0002912	biolink:Disease	brainstem cancer	A primary or metastatic malignant neoplasm that affects the brain stem.	ICD9:191.7|UMLS:C1332192|NCIT:C5967|SCTID:363473003|MESH:D020295|GARD:0008244|NCIT:C3570|DOID:4203	mondo.json	brain stem cancer|malignant neoplasm of the brainstem|neoplasm of adult brain stem|tumor of the brainstem|malignant tumor of brain stem|primary brain stem neoplasm|malignant tumor of the brain stem|malignant neoplasm of brainstem|malignant tumor of the brainstem|malignant brain stem tumor|malignant brain stem neoplasm|neoplasm of brain stem|brainstem cancer|malignant tumor of brainstem|primary brain stem tumor|malignant neoplasm of the brain stem|malignant brainstem tumor|malignant neoplasm of brain stem|cancer of brainstem|malignant brainstem neoplasm	http://purl.obolibrary.org/obo/MONDO_0002912	http://identifiers.org/snomedct/363473003|http://identifiers.org/mesh/D020295|NCIT:C3570|DOID:4203	gard_rare
HGNC:6462	biolink:NamedThing	KRT85			mondo.json		http://identifiers.org/hgnc/6462		
MONDO:0002913	biolink:Disease	cerebellar neoplasm	A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003	UMLS:C0007762|SCTID:126960003|NCIT:C2935|ICD9:191.6|DOID:4205|MESH:D002528	mondo.json	neoplasm of cerebellum|cerebellar tumor|cerebellum neoplasm|tumor of the cerebellum|cerebellum cancer|cerebellum tumor|tumor of cerebellum|cerebellum neoplasm (disease)|malignant tumor of cerebellum|neoplasm of the cerebellum|cerebellar neoplasm	http://purl.obolibrary.org/obo/MONDO_0002913	UMLS:C0007762|http://identifiers.org/snomedct/126960003|http://identifiers.org/mesh/D002528|NCIT:C2935|DOID:4205	
HGNC:6463	biolink:NamedThing	KRT86			mondo.json		http://identifiers.org/hgnc/6463		
MONDO:0002914	biolink:Disease	childhood brain stem neoplasm	A neoplasm that affects the brain stem and occurs during childhood.	NCIT:C5969|EFO:1001767|UMLS:C1332951|DOID:4206	mondo.json	childhood brain stem neoplasm|childhood neoplasm of brain stem|childhood neoplasm of the brain stem|brainstem cancer of childhood|pediatric tumor of brain stem|childhood brain stem tumor|pediatric tumor of brainstem|pediatric tumor of the brain stem|pediatric brainstem neoplasm|pediatric tumor of the brainstem|childhood neoplasm of the brainstem|childhood neoplasm of brainstem|childhood brainstem cancer|childhood brainstem tumor|pediatric neoplasm of brain stem|brain stem neoplasm|pediatric brain stem tumor|pediatric neoplasm of the brain stem|pediatric brain stem neoplasm|childhood tumor of brain stem|childhood tumor of the brain stem|childhood brainstem neoplasm|childhood tumor of the brainstem|childhood tumor of brainstem|pediatric neoplasm of the brainstem|pediatric brainstem cancer|pediatric neoplasm of brainstem|pediatric brainstem tumor	http://purl.obolibrary.org/obo/MONDO_0002914	NCIT:C5969|DOID:4206|UMLS:C1332951	
GO:0099568	biolink:NamedThing	cytoplasmic region	Any (proper) part of the cytoplasm of a single cell of sufficient size to still be considered cytoplasm.		mondo.json		http://purl.obolibrary.org/obo/GO_0099568		
MONDO:0002915	biolink:Disease	childhood infratentorial neoplasm	A neoplasm that affects the infratentorial region of the brain and occurs during childhood.	NCIT:C5802|UMLS:C1332973|DOID:4207	mondo.json	childhood infratentorial neoplasm|pediatric infratentorial neoplasm|childhood infratentorial tumors|infratentorial neoplasm of childhood|childhood infratentorial tumor|childhood infratentorial neoplasms|pediatric infratentorial tumor	http://purl.obolibrary.org/obo/MONDO_0002915	NCIT:C5802|DOID:4207|UMLS:C1332973	
GO:0099569	biolink:NamedThing	presynaptic cytoskeleton	The portion of the cytoskeleton contained within the presynapse.		mondo.json		http://purl.obolibrary.org/obo/GO_0099569		
GO:0002580	biolink:NamedThing	regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	Any process that modulates the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II.		mondo.json	regulation of peptide or polysaccharide antigen processing and presentation via MHC class II	http://purl.obolibrary.org/obo/GO_0002580		
GO:0002581	biolink:NamedThing	negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II.		mondo.json	negative regulation of peptide or polysaccharide antigen processing and presentation via MHC class II|down-regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|down regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|inhibition of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|downregulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	http://purl.obolibrary.org/obo/GO_0002581		
GO:0002582	biolink:NamedThing	positive regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II.		mondo.json	up regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|activation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|stimulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|positive regulation of peptide or polysaccharide antigen processing and presentation via MHC class II|upregulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|up-regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	http://purl.obolibrary.org/obo/GO_0002582		
HGNC:13187	biolink:NamedThing	ZP1			mondo.json		http://identifiers.org/hgnc/13187		
MONDO:0600008	biolink:Disease	cytokine release syndrome	A syndrome that occurs after therapeutic infusion of antibodies into the blood and is characterized by nausea, headache, tachycardia, hypotension, rash, and shortness of breath. It is caused by the release of cytokines from the cells that are targeted by the antibodies. Most patients experience a mild to moderate reaction; however, the reaction may be severe and life-threatening.	MESH:D000080424|NCIT:C78251	mondo.json	cytokine-associated toxicity|CRS|cytokine storm	http://purl.obolibrary.org/obo/MONDO_0600008	http://identifiers.org/mesh/D000080424|NCIT:C78251	
MONDO:0600009	biolink:Disease	severe hypophosphatasia	Severe hypophosphatasia is a rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0600009		
CHR:9606-chr5q22.2	biolink:NamedThing	5q22.2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr5q22.2		
MONDO:0600001	biolink:Disease	glutaminase deficiency	Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene.		mondo.json	glutaminase deficiency	http://purl.obolibrary.org/obo/MONDO_0600001		
MONDO:0600002	biolink:Disease	hemorrhagic fever	An infectious disease caused by certain viruses or bacteria that can damage the walls of tiny blood vessels, making them leak, and can hamper the blood's ability to clot and cause severe, life-threatening illness.	NCIT:C36169	mondo.json	haemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0600002	NCIT:C36169	
MONDO:0600003	biolink:Disease	bacterial hemorrhagic fever	A hemorrhagic fever caused by bacteria. Bacterial hemorrhagic disease is rare. One example of a bacterial hemorrhagic disease is scrub typhus.		mondo.json	bacterial haemorrhagic fever|haemorrhagic fever, bacterial	http://purl.obolibrary.org/obo/MONDO_0600003		
MONDO:0600005	biolink:Disease	venom allergy	An allergic disease involving venom.		mondo.json	venom hypersensitivity|IgE-mediated venom hypersensitivity	http://purl.obolibrary.org/obo/MONDO_0600005		
SO:0000946	biolink:SequenceFeature	integration_excision_site	A region specifically recognised by a recombinase, which inserts or removes another region marked by a distinct cognate integration/excision site.		mondo.json	attachment site|integration excision site	http://purl.obolibrary.org/obo/SO_0000946		
GO:1905939	biolink:NamedThing	regulation of gonad development	Any process that modulates the frequency, rate or extent of gonad development.		mondo.json	regulation of gonadogenesis	http://purl.obolibrary.org/obo/GO_1905939		
MONDO:0600017	biolink:Disease	acinar dysplasia caused by mutation in FGF10	Any acinar dysplasia in which the cause of the disease is a mutation in the FGF10 gene.		mondo.json	FGF10 related acinar dysplasia|FGF10 acinar dysplasia	http://purl.obolibrary.org/obo/MONDO_0600017		
MONDO:0600018	biolink:Disease	acinar dysplasia caused by mutation in FGFR2	Any acinar dysplasia in which the cause of the disease is a mutation in the FGFR2 gene.		mondo.json	FGFR2 related acinar dysplasia|FGFR2 acinar dysplasia	http://purl.obolibrary.org/obo/MONDO_0600018		
MONDO:0600019	biolink:Disease	acinar dysplasia caused by mutation in TBX4	Any acinar dysplasia in which the cause of the disease is a mutation in the TBX4 gene.		mondo.json	TBX4 acinar dysplasia|TBX4 related acinar dysplasia	http://purl.obolibrary.org/obo/MONDO_0600019		
GO:0002562	biolink:NamedThing	somatic diversification of immune receptors via germline recombination within a single locus	The process in which immune receptor genes are diversified through recombination of the germline genetic elements within a single genetic locus.		mondo.json		http://purl.obolibrary.org/obo/GO_0002562		
MONDO:0600010	biolink:Disease	moderate hypophosphatasia	Moderate hypophosphatasia is a rare, moderate form of hypophosphatasia characterized by defective mineralization of bone and/or teeth, premature loss of teeth with intact roots, and reduced serum alkaline phosphatase (ALP) activity. Individuals can present with this form of hypophosphatasia in infancy, childhood, or adulthood.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0600010		
MONDO:0600011	biolink:Disease	mild hypophosphatasia	Mild hypophosphatasia is the most common form of hypophosphatasia characterized by low alkaline phosphatase, unspecific clinical signs, and typically presents in individuals in adulthood.		mondo.json	attenuated hypophosphatasia	http://purl.obolibrary.org/obo/MONDO_0600011		
MONDO:0600014	biolink:Disease	alveolar capillary dysplasia without misalignment of pulmonary veins	A rare form of interstitial and vascular lung disease that presents as severe pulmonary hypertension and refractory hypoxemia early in life that is characterized by a lack of misalignment of the pulmonary veins.		mondo.json	ACD without misalignment	http://purl.obolibrary.org/obo/MONDO_0600014		
MONDO:0600016	biolink:Disease	acinar dysplasia	A lethal, developmental lung malformation resulting in neonatal respiratory insufficiency. It is characterized by pulmonary hypoplasia and arrest in the pseudoglandular stage of development, resulting in the absence of functional gas exchange. It can be caused by mutations in FGF10, FGFR2 or TBX4.		mondo.json	AcDys	http://purl.obolibrary.org/obo/MONDO_0600016		
GO:1905940	biolink:NamedThing	negative regulation of gonad development	Any process that stops, prevents or reduces the frequency, rate or extent of gonad development.		mondo.json	down-regulation of gonad development|negative regulation of gonadogenesis|down-regulation of gonadogenesis|down regulation of gonad development|down regulation of gonadogenesis|downregulation of gonad development|inhibition of gonad development|downregulation of gonadogenesis|inhibition of gonadogenesis	http://purl.obolibrary.org/obo/GO_1905940		
GO:1905941	biolink:NamedThing	positive regulation of gonad development	Any process that activates or increases the frequency, rate or extent of gonad development.		mondo.json	activation of gonad development|up regulation of gonadogenesis|activation of gonadogenesis|positive regulation of gonadogenesis|upregulation of gonad development|upregulation of gonadogenesis|up-regulation of gonad development|up-regulation of gonadogenesis|up regulation of gonad development	http://purl.obolibrary.org/obo/GO_1905941		
HGNC:13164	biolink:NamedThing	CNBP			mondo.json		http://identifiers.org/hgnc/13164		
GO:0002577	biolink:NamedThing	regulation of antigen processing and presentation	Any process that modulates the frequency, rate, or extent of antigen processing and presentation.		mondo.json		http://purl.obolibrary.org/obo/GO_0002577		
MONDO:0600029	biolink:Disease	restrictive pulmonary disease	Decreased lung volume and inadequate ventilation due to parenchymal lung disorders (e.g., interstitial pulmonary fibrosis) or extrapulmonary disorders (e.g., scoliosis). Patients present with shortness of breath and cough.	UMLS:C0085581|SCTID:36485005|NCIT:C91762	mondo.json	Restrictive lung disease (disorder)|restrictive lung disease	http://purl.obolibrary.org/obo/MONDO_0600029	NCIT:C91762|http://identifiers.org/snomedct/36485005|UMLS:C0085581	
GO:0002578	biolink:NamedThing	negative regulation of antigen processing and presentation	Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation.		mondo.json	down-regulation of antigen processing and presentation|down regulation of antigen processing and presentation|inhibition of antigen processing and presentation|downregulation of antigen processing and presentation	http://purl.obolibrary.org/obo/GO_0002578		
GO:0002579	biolink:NamedThing	positive regulation of antigen processing and presentation	Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation.		mondo.json	stimulation of antigen processing and presentation|upregulation of antigen processing and presentation|up-regulation of antigen processing and presentation|up regulation of antigen processing and presentation|activation of antigen processing and presentation	http://purl.obolibrary.org/obo/GO_0002579		
GO:0002573	biolink:NamedThing	myeloid leukocyte differentiation	The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte lineage.		mondo.json	myeloid leucocyte differentiation	http://purl.obolibrary.org/obo/GO_0002573		
GO:0002574	biolink:NamedThing	thrombocyte differentiation	The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a thrombocyte, a nucleated cell found in all vertebrates but mammals involved in hemostasis.		mondo.json		http://purl.obolibrary.org/obo/GO_0002574		
MONDO:0600023	biolink:Disease	idiopathic inflammatory myopathy	Idiopathic form of inflammatory myopathy.	SCTID:702380008|UMLS:C0751356|NCIT:C116796	mondo.json	idiopathic myositis	http://purl.obolibrary.org/obo/MONDO_0600023	http://identifiers.org/snomedct/702380008|NCIT:C116796|UMLS:C0751356	
HGNC:25151	biolink:NamedThing	ADAT3			mondo.json		http://identifiers.org/hgnc/25151		
MONDO:0600024	biolink:Disease	familial idiopathic inflammatory myopathy	An instance of myositis that is caused by an inherited genomic modification in an individual, and has an unknown cause.	OMIM:160750|MESH:C000598744	mondo.json	familial idiopathic myositis	http://purl.obolibrary.org/obo/MONDO_0600024	https://omim.org/entry/160750|http://identifiers.org/mesh/C000598744	
MONDO:0600025	biolink:Disease	hydrosalpinx	Fluid accumulation and dilatation of the fallopian tube due to tubal blockage.	NCIT:C142886	mondo.json	fallopian tube obstruction|blocked fallopian tube	http://purl.obolibrary.org/obo/MONDO_0600025	NCIT:C142886	
MONDO:0600026	biolink:Disease	vanishing lung syndrome	A rare form of irreversible damage to the pulmonary parenchyma often due to chronic obstructive pulmonary disease (COPD). It is associated with a spectrum of clinical manifestations, including worsening dyspnea, cough, declining pulmonary function, and occasionally spontaneous pneumothorax due to ruptured bullae.		mondo.json	idiopathic giant bullous emphysema|VLS	http://purl.obolibrary.org/obo/MONDO_0600026		
MONDO:0600027	biolink:Disease	congenital right-sided heart lesions	Serious heritable structural anomalies of the right side of the heart, including pulmonary atresia, tricuspid valve disease and Ebstein's anomaly, and right ventricular outflow tract obstruction and/or pulmonary stenosis, that are present from birth.	EFO:0600032	mondo.json		http://purl.obolibrary.org/obo/MONDO_0600027		
HGNC:25155	biolink:NamedThing	HOGA1			mondo.json		http://identifiers.org/hgnc/25155		
GO:1905951	biolink:NamedThing	mitochondrion DNA recombination	Any DNA recombination that takes place in mitochondrion.		mondo.json	DNA recombination in mitochondria	http://purl.obolibrary.org/obo/GO_1905951		
GO:1905952	biolink:NamedThing	regulation of lipid localization	Any process that modulates the frequency, rate or extent of lipid localization.		mondo.json	regulation of lipid localisation	http://purl.obolibrary.org/obo/GO_1905952		
GO:1905953	biolink:NamedThing	negative regulation of lipid localization	Any process that stops, prevents or reduces the frequency, rate or extent of lipid localization.		mondo.json	down-regulation of lipid localization|downregulation of lipid localisation|down regulation of lipid localisation|inhibition of lipid localisation|negative regulation of lipid localisation|downregulation of lipid localization|down-regulation of lipid localisation|down regulation of lipid localization|inhibition of lipid localization	http://purl.obolibrary.org/obo/GO_1905953		
GO:1905954	biolink:NamedThing	positive regulation of lipid localization	Any process that activates or increases the frequency, rate or extent of lipid localization.		mondo.json	up regulation of lipid localisation|upregulation of lipid localization|up-regulation of lipid localisation|activation of lipid localisation|up regulation of lipid localization|up-regulation of lipid localization|upregulation of lipid localisation|activation of lipid localization|positive regulation of lipid localisation	http://purl.obolibrary.org/obo/GO_1905954		
HGNC:13176	biolink:NamedThing	IKZF1			mondo.json		http://identifiers.org/hgnc/13176		
GO:1903304	biolink:NamedThing	positive regulation of pyruvate kinase activity	Any process that activates or increases the frequency, rate or extent of pyruvate kinase activity.		mondo.json	up-regulation of phosphoenol transphosphorylase activity|up-regulation of pyruvate kinase activity|positive regulation of ATP:pyruvate 2-O-phosphotransferase activity|activation of pyruvate kinase activity|upregulation of phosphoenolpyruvate kinase activity|up regulation of phosphoenol transphosphorylase activity|up regulation of ATP:pyruvate 2-O-phosphotransferase activity|activation of phosphoenol transphosphorylase activity|positive regulation of phosphoenol transphosphorylase activity|up-regulation of ATP:pyruvate 2-O-phosphotransferase activity|upregulation of pyruvate kinase activity|activation of ATP:pyruvate 2-O-phosphotransferase activity|upregulation of phosphoenol transphosphorylase activity|up-regulation of phosphoenolpyruvate kinase activity|up regulation of phosphoenolpyruvate kinase activity|upregulation of ATP:pyruvate 2-O-phosphotransferase activity|up regulation of pyruvate kinase activity|positive regulation of phosphoenolpyruvate kinase activity|activation of phosphoenolpyruvate kinase activity	http://purl.obolibrary.org/obo/GO_1903304		
GO:1903303	biolink:NamedThing	negative regulation of pyruvate kinase activity	Any process that stops, prevents or reduces the frequency, rate or extent of pyruvate kinase activity.		mondo.json	downregulation of phosphoenol transphosphorylase activity|downregulation of pyruvate kinase activity|negative regulation of phosphoenolpyruvate kinase activity|down-regulation of phosphoenolpyruvate kinase activity|down regulation of pyruvate kinase activity|inhibition of pyruvate kinase activity|down regulation of phosphoenolpyruvate kinase activity|downregulation of ATP:pyruvate 2-O-phosphotransferase activity|down-regulation of pyruvate kinase activity|negative regulation of phosphoenol transphosphorylase activity|down-regulation of phosphoenol transphosphorylase activity|inhibition of phosphoenolpyruvate kinase activity|downregulation of phosphoenolpyruvate kinase activity|down regulation of ATP:pyruvate 2-O-phosphotransferase activity|inhibition of ATP:pyruvate 2-O-phosphotransferase activity|down regulation of phosphoenol transphosphorylase activity|negative regulation of ATP:pyruvate 2-O-phosphotransferase activity|down-regulation of ATP:pyruvate 2-O-phosphotransferase activity|inhibition of phosphoenol transphosphorylase activity	http://purl.obolibrary.org/obo/GO_1903303		
GO:1903302	biolink:NamedThing	regulation of pyruvate kinase activity	Any process that modulates the frequency, rate or extent of pyruvate kinase activity.		mondo.json	regulation of phosphoenolpyruvate kinase activity|regulation of ATP:pyruvate 2-O-phosphotransferase activity|regulation of phosphoenol transphosphorylase activity	http://purl.obolibrary.org/obo/GO_1903302		
GO:0099500	biolink:NamedThing	vesicle fusion to plasma membrane	Fusion of the membrane of a vesicle with the plasma membrane, thereby releasing its contents into the extracellular space.		mondo.json		http://purl.obolibrary.org/obo/GO_0099500		
HP:0033095	biolink:PhenotypicFeature	Increased sulfur amino acid level in urine	An elevated level of a sulfur-containing amino acid in the urine.		mondo.json	Increased sulfur-containing amino acid level in urine|Increased sulphur amino acid level in urine	http://purl.obolibrary.org/obo/HP_0033095		
ENVO:01001835	biolink:NamedThing	alpine biome	A biome which is subject to alpine altitudinal conditions.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001835		
GO:1903319	biolink:NamedThing	positive regulation of protein maturation	Any process that activates or increases the frequency, rate or extent of protein maturation.		mondo.json	up-regulation of protein maturation|activation of protein maturation|upregulation of protein maturation|up regulation of protein maturation	http://purl.obolibrary.org/obo/GO_1903319		
GO:1903318	biolink:NamedThing	negative regulation of protein maturation	Any process that stops, prevents or reduces the frequency, rate or extent of protein maturation.		mondo.json	downregulation of protein maturation|down regulation of protein maturation|inhibition of protein maturation|down-regulation of protein maturation	http://purl.obolibrary.org/obo/GO_1903318		
GO:1903317	biolink:NamedThing	regulation of protein maturation	Any process that modulates the frequency, rate or extent of protein maturation.		mondo.json		http://purl.obolibrary.org/obo/GO_1903317		
GO:1903316	biolink:NamedThing	positive regulation of nitrogen cycle metabolic process	Any process that activates or increases the frequency, rate or extent of nitrogen cycle metabolic process.		mondo.json	up-regulation of nitrogen cycle metabolic process|activation of nitrogen cycle metabolic process|upregulation of nitrogen cycle metabolic process|up regulation of nitrogen cycle metabolic process	http://purl.obolibrary.org/obo/GO_1903316		
GO:1903315	biolink:NamedThing	negative regulation of nitrogen cycle metabolic process	Any process that stops, prevents or reduces the frequency, rate or extent of nitrogen cycle metabolic process.		mondo.json	downregulation of nitrogen cycle metabolic process|down regulation of nitrogen cycle metabolic process|inhibition of nitrogen cycle metabolic process|down-regulation of nitrogen cycle metabolic process	http://purl.obolibrary.org/obo/GO_1903315		
GO:1903314	biolink:NamedThing	regulation of nitrogen cycle metabolic process	Any process that modulates the frequency, rate or extent of nitrogen cycle metabolic process.		mondo.json		http://purl.obolibrary.org/obo/GO_1903314		
HGNC:25135	biolink:NamedThing	LRSAM1			mondo.json		http://identifiers.org/hgnc/25135		
ENVO:01001836	biolink:NamedThing	montane biome	A biome which is subject to montane altitudinal conditions.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001836		
ENVO:01001838	biolink:NamedThing	arid biome	A biome which is subject to arid environmental conditions.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001838		
HGNC:25133	biolink:NamedThing	MARS2			mondo.json		http://identifiers.org/hgnc/25133		
SO:0000986	biolink:SequenceFeature	topology_attribute	The attribute of whether a nucleotide polymer is linear or circular.		mondo.json	topology attribute	http://purl.obolibrary.org/obo/SO_0000986		
HGNC:13156	biolink:NamedThing	ZNF81			mondo.json		http://identifiers.org/hgnc/13156		
SO:0000988	biolink:SequenceFeature	circular	A quality of a nucleotide polymer that has no terminal nucleotide residues.		mondo.json	zero-ended	http://purl.obolibrary.org/obo/SO_0000988		
GO:0051560	biolink:NamedThing	mitochondrial calcium ion homeostasis	Any process involved in the maintenance of an internal steady state of calcium ions within the cytoplasm of a cell or between mitochondria and their surroundings.		mondo.json	mitochondrial calcium ion concentration regulation|calcium ion homeostasis in mitochondria|regulation of calcium ion concentration in mitochondria|regulation of mitochondrial calcium ion concentration|regulation of calcium ion concentration in mitochondrion|calcium ion homeostasis in mitochondrion	http://purl.obolibrary.org/obo/GO_0051560		
GO:0099503	biolink:NamedThing	secretory vesicle	A cytoplasmic, membrane bound vesicle that is capable of fusing to the plasma membrane to release its contents into the extracellular space.		mondo.json		http://purl.obolibrary.org/obo/GO_0099503		
GO:0002522	biolink:NamedThing	leukocyte migration involved in immune response	The movement of a leukocyte within or between different tissues and organs of the body as part of an immune response.		mondo.json	leukocyte trafficking during immune response|immune cell migration during immune response|leucocyte migration during immune response|leucocyte trafficking during immune response|immune cell trafficking during immune response	http://purl.obolibrary.org/obo/GO_0002522		
GO:0002523	biolink:NamedThing	leukocyte migration involved in inflammatory response	The movement of a leukocyte within or between different tissues and organs of the body contributing to an inflammatory response.		mondo.json	leukocyte trafficking during inflammatory response|immune cell migration during inflammatory response|leucocyte migration during inflammatory response|leucocyte trafficking during inflammatory response|immune cell trafficking during inflammatory response|leukocyte migration during inflammatory response	http://purl.obolibrary.org/obo/GO_0002523		
ENVO:01001865	biolink:NamedThing	concentration of carbon dioxide in an atmosphere	The concentration of carbon dioxide when measured in air that is part of an atmosphere.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001865		
GO:0002524	biolink:NamedThing	hypersensitivity	An inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system.		mondo.json	hypersensitivity response	http://purl.obolibrary.org/obo/GO_0002524		
GO:0002520	biolink:NamedThing	immune system development	The process whose specific outcome is the progression of an organismal system whose objective is to provide calibrated responses by an organism to a potential internal or invasive threat, over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process.		mondo.json		http://purl.obolibrary.org/obo/GO_0002520		
GO:0002521	biolink:NamedThing	leukocyte differentiation	The process in which a relatively unspecialized hemopoietic precursor cell acquires the specialized features of a leukocyte. A leukocyte is an achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue.		mondo.json	leucocyte differentiation|immune cell differentiation	http://purl.obolibrary.org/obo/GO_0002521		
HP:0045084	biolink:PhenotypicFeature	Limb myoclonus			mondo.json	Myoclonus of limbs	http://purl.obolibrary.org/obo/HP_0045084		
HGNC:13128	biolink:NamedThing	ZNF711			mondo.json		http://identifiers.org/hgnc/13128		
GO:0002526	biolink:NamedThing	acute inflammatory response	Inflammation which comprises a rapid, short-lived, relatively uniform response to acute injury or antigenic challenge and is characterized by accumulations of fluid, plasma proteins, and granulocytic leukocytes. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response.		mondo.json		http://purl.obolibrary.org/obo/GO_0002526		
GO:0051588	biolink:NamedThing	regulation of neurotransmitter transport	Any process that modulates the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0051588		
HGNC:25118	biolink:NamedThing	OTULIN			mondo.json		http://identifiers.org/hgnc/25118		
GO:0051589	biolink:NamedThing	negative regulation of neurotransmitter transport	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	inhibition of neurotransmitter transport|down-regulation of neurotransmitter transport|downregulation of neurotransmitter transport|down regulation of neurotransmitter transport	http://purl.obolibrary.org/obo/GO_0051589		
GO:0002534	biolink:NamedThing	cytokine production involved in inflammatory response	The synthesis or release of a cytokine following a inflammatory stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels.		mondo.json	cytokine production involved in acute inflammatory response	http://purl.obolibrary.org/obo/GO_0002534		
ENVO:01001856	biolink:NamedThing	liquid accumulation process	A material accumulation process during which the volume of liquid entity increases.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001856		
ENVO:01001852	biolink:NamedThing	energy transfer process	A process during which one entity loses energy to another entity.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001852		
GO:0002532	biolink:NamedThing	production of molecular mediator involved in inflammatory response	The synthesis or release of any molecular mediator of the inflammatory response following an inflammatory stimulus, resulting in an increase in its intracellular or extracellular levels.		mondo.json	production of molecular mediator involved in acute inflammatory response|production of cellular mediator of acute inflammation	http://purl.obolibrary.org/obo/GO_0002532		
GO:1903337	biolink:NamedThing	positive regulation of vacuolar transport	Any process that activates or increases the frequency, rate or extent of vacuolar transport.		mondo.json	upregulation of vacuolar transport|up regulation of vacuolar transport|activation of vacuolar transport|up-regulation of vacuolar transport	http://purl.obolibrary.org/obo/GO_1903337		
GO:1903336	biolink:NamedThing	negative regulation of vacuolar transport	Any process that stops, prevents or reduces the frequency, rate or extent of vacuolar transport.		mondo.json	down regulation of vacuolar transport|inhibition of vacuolar transport|down-regulation of vacuolar transport|downregulation of vacuolar transport	http://purl.obolibrary.org/obo/GO_1903336		
GO:1903335	biolink:NamedThing	regulation of vacuolar transport	Any process that modulates the frequency, rate or extent of vacuolar transport.		mondo.json		http://purl.obolibrary.org/obo/GO_1903335		
NCBITaxon:422676	biolink:OrganismalEntity	Aconoidasida		GC_ID:1	mondo.json	Hematozoa Vivier 1982	http://purl.obolibrary.org/obo/NCBITaxon_422676		
GO:0002538	biolink:NamedThing	arachidonic acid metabolite production involved in inflammatory response	The synthesis or release of products of arachidonic acid metabolism following a stimulus as part of an inflammatory response, resulting in an increase in their intracellular or extracellular levels.		mondo.json	arachidonic acid metabolite production involved in acute inflammatory response|production of arachidonic acid metabolites involved in acute inflammatory response|production of arachidonic acid metabolites involved in inflammatory response	http://purl.obolibrary.org/obo/GO_0002538		
GO:0002539	biolink:NamedThing	prostaglandin production involved in inflammatory response	The synthesis or release of any prostaglandin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels.		mondo.json	prostaglandin production involved in acute inflammatory response	http://purl.obolibrary.org/obo/GO_0002539		
MONDO:0000399	biolink:Disease	obsolete dyskinetic cerebral palsy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000399		
NCBITaxon:38820	biolink:OrganismalEntity	Poales		GC_ID:1|PMID:26350789	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_38820		
MONDO:0000398	biolink:Disease	obsolete female breast cancer			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000398		
MONDO:0000397	biolink:Disease	ataxic cerebral palsy	A form of cerebral palsy caused by damage to cerebellar structures.	ICD9:343.8|NCIT:C97168|SCTID:278512001|UMLS:C0394005|DOID:0050670	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000397	DOID:0050670|http://identifiers.org/snomedct/278512001|UMLS:C0394005|NCIT:C97168	
MONDO:0000396	biolink:Disease	spastic cerebral palsy	A form of cerebral palsy wherein spasticity is the exclusive impairment present.	DOID:0050669|SCTID:230773005|UMLS:C0338596|ICD9:344.89|NCIT:C116903	mondo.json	hypertonic cerebral palsy	http://purl.obolibrary.org/obo/MONDO_0000396	http://identifiers.org/snomedct/230773005|DOID:0050669|UMLS:C0338596|NCIT:C116903	
MONDO:0000391	biolink:Disease	obsolete Bethlem myopathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000391		
MONDO:0000390	biolink:Disease	vitelliform macular dystrophy	A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision.	NCIT:C118788|SCTID:90036004|DOID:0050661|ICD10CM:H35.5|MESH:D057826|OMIMPS:153840|UMLS:C0339510	mondo.json	macular dystrophy, vitelliform|vitelliform macular dystrophy	http://purl.obolibrary.org/obo/MONDO_0000390	NCIT:C118788|https://omim.org/phenotypicSeries/PS153840|UMLS:C0339510|DOID:0050661|http://identifiers.org/snomedct/90036004|http://identifiers.org/mesh/D057826	
MONDO:0024360	biolink:Disease	central sleep apnea caused by high altitude		UMLS:C4075997|SCTID:91441000119109	mondo.json	central sleep apnea caused by high altitude|central sleep apnea due to high altitude	http://purl.obolibrary.org/obo/MONDO_0024360	UMLS:C4075997|http://identifiers.org/snomedct/91441000119109	
MONDO:0000395	biolink:Disease	alcohol-related birth defect	A physical or cognitive mental abnormality caused by maternal alcohol consumption and its toxic effect on the developing embryo during pregnancy.	NCIT:C92727|DOID:0050668|UMLS:C3146244	mondo.json	alcohol related birth defect|ARBD	http://purl.obolibrary.org/obo/MONDO_0000395	UMLS:C3146244|NCIT:C92727|DOID:0050668	
MONDO:0024361	biolink:Disease	circadian rhythm sleep disorder	A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration of the circadian system or to a misalignment between the endogenous circadian rhythm and the sleep-wake schedule required by an individual's physical environment or social or professional schedule.(DSM IV)	ICD10CM:G47.2|ICD9:327.30|NCIT:C95071|SCTID:3745000|MESH:D020178	mondo.json	sleep-wake schedule disorder|disorders of the sleep-wake schedule|circadian sleep disorder	http://purl.obolibrary.org/obo/MONDO_0024361	http://purl.bioontology.org/ontology/ICD10CM/G47.2|http://identifiers.org/mesh/D020178|NCIT:C95071|http://identifiers.org/snomedct/3745000	
MONDO:0000394	biolink:Disease	obsolete alcohol-related neurodevelopmental disorder			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000394		
MONDO:0000393	biolink:Disease	partial fetal alcohol syndrome	A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure.	UMLS:C3661483|DOID:0050666	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000393	DOID:0050666|UMLS:C3661483	
MONDO:0024363	biolink:Disease	rapid eye movement sleep disorder		ICD9:379.59|SCTID:192004002	mondo.json	repeated rapid eye movement sleep interruptions	http://purl.obolibrary.org/obo/MONDO_0024363	http://identifiers.org/snomedct/192004002	
MONDO:0000392	biolink:Disease	obsolete fetal alcohol syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000392		
MONDO:0012388	biolink:Disease	myopia 11, autosomal dominant		MESH:C566490|UMLS:C1864941|OMIM:609994	mondo.json	myopia 11, autosomal dominant|myopia 11|MYP11	http://purl.obolibrary.org/obo/MONDO_0012388	https://omim.org/entry/609994|UMLS:C1864941|http://identifiers.org/mesh/C566490	
MONDO:0012389	biolink:Disease	myopia 12, autosomal dominant		UMLS:C1864940|MESH:C566489|OMIM:609995	mondo.json	myopia 12|myopia 12, autosomal dominant|MYP12	http://purl.obolibrary.org/obo/MONDO_0012389	https://omim.org/entry/609995|UMLS:C1864940|http://identifiers.org/mesh/C566489	
MONDO:0012386	biolink:Disease	trichoscyphodysplasia		OMIM:609990|MESH:C536557|UMLS:C1864943|GARD:0009861	mondo.json	metaphyseal chondrodysplasia with ectodermal dysplasia|Trichoscyphodysplasia|metaphyseal chondrodysplasia with cone-Shaped epiphyses and alopecia|cupped metaphyses and cone-Shaped epiphyses with alopecia	http://purl.obolibrary.org/obo/MONDO_0012386	UMLS:C1864943|http://identifiers.org/mesh/C536557|https://omim.org/entry/609990	gard_rare
MONDO:0012387	biolink:Disease	osteosclerosis-ichthyosis-premature ovarian failure syndrome	This syndrome is characterised by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals.	Orphanet:75325|GARD:0009904|SCTID:722114007|OMIM:609993|MESH:C536064	mondo.json	osteosclerosis with ichthyosis and POF|sclerosing dysplasia of bone with ichthyosis and premature ovarian failure|sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome|osteosclerosis with ichthyosis and premature ovarian failure	http://purl.obolibrary.org/obo/MONDO_0012387	Orphanet:75325|http://identifiers.org/mesh/C536064|https://omim.org/entry/609993|http://identifiers.org/snomedct/722114007	ordo_disease
HGNC:15766	biolink:NamedThing	ADNP			mondo.json		http://identifiers.org/hgnc/15766		
MONDO:0012380	biolink:Disease	autosomal dominant nonsyndromic hearing loss 53	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12.	OMIM:609965|GARD:0009934|DOID:0110579|MESH:C566495|UMLS:C1864957	mondo.json	autosomal dominant nonsyndromic deafness type 53|autosomal dominant deafness 53|DFNA53|deafness, autosomal dominant nonsyndromic sensorineural 53|deafness, autosomal dominant 53|autosomal dominant nonsyndromic deafness 53	http://purl.obolibrary.org/obo/MONDO_0012380	http://identifiers.org/mesh/C566495|DOID:0110579|https://omim.org/entry/609965|UMLS:C1864957	
MONDO:0012381	biolink:Disease	hyperinsulinism due to INSR deficiency	Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.	Orphanet:263458|OMIM:609968|DOID:0070220|UMLS:C1864952|MESH:C566494|SCTID:721235003	mondo.json	hyperinsulinemic hypoglycemia, familial, 5|hyperinsulinemic hypoglycemia due to insulin receptor deficiency|hyperinsulinemic hypoglycemia, familial, type 5|HHF5|hyperinsulinemic hypoglycemia due to INSR deficiency	http://purl.obolibrary.org/obo/MONDO_0012381	http://identifiers.org/mesh/C566494|http://identifiers.org/snomedct/721235003|Orphanet:263458|https://omim.org/entry/609968|DOID:0070220|UMLS:C1864952	ordo_disease
HGNC:15761	biolink:NamedThing	OSBPL2			mondo.json		http://identifiers.org/hgnc/15761		
MONDO:0012384	biolink:Disease	panic disorder 3		OMIM:609985|UMLS:C1864946	mondo.json	panic disorder 3|panic disorder susceptibility locus, chromosome 4Q-related|panic disorder type 3|Pand3	http://purl.obolibrary.org/obo/MONDO_0012384	https://omim.org/entry/609985|UMLS:C1864946	
MONDO:0012385	biolink:Disease	metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands		UMLS:C1864944|OMIM:609989|GARD:0009942|MESH:C537354	mondo.json	cupped metaphyses and cone-Shaped epiphyses without alopecia or brachydactyly|metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands	http://purl.obolibrary.org/obo/MONDO_0012385	http://identifiers.org/mesh/C537354|https://omim.org/entry/609989|UMLS:C1864944	gard_rare
MONDO:0012382	biolink:Disease	hyperinsulinemic hypoglycemia, familial, 4	Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene.	DOID:0070215|SCTID:721236002|MESH:C535310|UMLS:C4303473|OMIM:609975|MESH:C566493|Orphanet:71212|UMLS:C1864948|GARD:0009870	mondo.json	SCHAD deficiency, formerly|hyperinsulinism due to glutamodehydrogenase deficiency|hyperinsulinemic hypoglycemia due to HADH deficiency|hyperinsulinemic hypoglycemia (disease) caused by mutation in HADH|HADH hyperinsulinemic hypoglycemia (disease)|HHF4|hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency|medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency|L-3-Alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency|M/SCHAD|HADH deficiency|had deficiency|hyperinsulinemic hypoglycemia, familial, 4|M-SCHAD deficiency|hyperinsulinemic hypoglycemia, familial, type 4|hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency|HADHSC deficiency|3-alpha hydroxyacyl-CoA dehydrogenase deficiency|3-hydroxylacyl-CoA dehydrogenase deficiency|hyperinsulinism due to SCHAD deficiency|3-hydroxyacyl-CoA dehydrogenase deficiency|3-Alpha-hydroxyacyl-Coenzyme A dehydrogenase deficiency|3-hydroxyacyl-Coenzyme A dehydrogenase deficiency|hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency|SCHAD deficiency	http://purl.obolibrary.org/obo/MONDO_0012382	http://identifiers.org/mesh/C566493|Orphanet:71212|UMLS:C4303473|http://identifiers.org/snomedct/721236002|DOID:0070215|https://omim.org/entry/609975|UMLS:C1864948	ordo_disease|gard_rare
MONDO:0012383	biolink:Disease	primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21.	NCIT:C123729|SCTID:724275005|UMLS:C1864947|Orphanet:75391|MESH:C566492|OMIM:609981	mondo.json	natural KILLER cell and glucocorticoid deficiency with DNA repair defect|mini-chromosome maintenance 4|natural Killer cell deficiency, familial isolated|IMD54|immunodeficiency 54|NKGCD|primary immunodeficiency due to MCM4 deficiency	http://purl.obolibrary.org/obo/MONDO_0012383	http://identifiers.org/snomedct/724275005|http://identifiers.org/mesh/C566492|https://omim.org/entry/609981|UMLS:C1864947|NCIT:C123729|Orphanet:75391	ordo_disease
MONDO:0024355	biolink:Disease	respiratory tract infectious disorder	Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases.	ICD9:519.8|MESH:D012141|SCTID:275498002	mondo.json	upper respiratory infections|infections, upper respiratory tract|respiratory infection, upper|upper respiratory tract infections|infections, respiratory tract|infections, upper respiratory|infection, respiratory tract|infections, respiratory|respiratory infections|respiratory tract infection	http://purl.obolibrary.org/obo/MONDO_0024355	http://identifiers.org/mesh/D012141|http://identifiers.org/snomedct/275498002	
MONDO:0024354	biolink:Disease	cytomegalovirus pneumonia	Pneumonia caused by cytomegalovirus. Most humans are exposed to cytomegalovirus. Healthy individuals do not develop signs and symptoms of infection. Patients with weakened immune system (e.g., AIDS patients, cancer patients who are being treated with chemotherapy, and patients who have received bone marrow or solid organ transplants) develop signs and symptoms of infection. They include cough, shortness of breath, fatigue, malaise, fever, muscle and joint pain, and excessive sweating.	SCTID:7678002|UMLS:C0276253|NCIT:C35360	mondo.json	CMV pneumonia|Cytomegalovirus pneumonia|cytomegalovirus pneumonia|Cytomegaloviral pneumonia|Cytomegalovirus caused pneumonia	http://purl.obolibrary.org/obo/MONDO_0024354	NCIT:C35360|http://identifiers.org/snomedct/7678002|UMLS:C0276253	
MONDO:0024357	biolink:Disease	drug induced central sleep apnea		UMLS:C3662033|SCTID:104831000119109	mondo.json	drug induced central sleep apnea	http://purl.obolibrary.org/obo/MONDO_0024357	http://identifiers.org/snomedct/104831000119109|UMLS:C3662033	
MONDO:0024356	biolink:Disease	primary central sleep apnea syndrome		ICD10CM:G47.31|ICD9:327.21|UMLS:C0751762|SCTID:9741000119101	mondo.json	primary central sleep apnea	http://purl.obolibrary.org/obo/MONDO_0024356	http://identifiers.org/snomedct/9741000119101|UMLS:C0751762|http://purl.bioontology.org/ontology/ICD10CM/G47.31	
MONDO:0024359	biolink:Disease	central sleep apnea due to periodic breathing		SCTID:85721000119105|UMLS:C3662057|ICD9:786.09|ICD9:327.27	mondo.json	central sleep apnea due to periodic breathing	http://purl.obolibrary.org/obo/MONDO_0024359	http://identifiers.org/snomedct/85721000119105|UMLS:C3662057	
MONDO:0024358	biolink:Disease	complex sleep apnea	A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device.	SCTID:230493001|DOID:0080302	mondo.json	complex sleep apnea|mixed sleep apnea|CompSAS	http://purl.obolibrary.org/obo/MONDO_0024358	http://identifiers.org/snomedct/230493001|DOID:0080302	
MONDO:0024351	biolink:Disease	obsolete familial pityriasis rubra pilaris			mondo.json		http://purl.obolibrary.org/obo/MONDO_0024351		
MONDO:0024350	biolink:Disease	pityriasis steatoides		ICD9:696.5|UMLS:C1274781|SCTID:403426003	mondo.json	pityriasis steatoides	http://purl.obolibrary.org/obo/MONDO_0024350	UMLS:C1274781|http://identifiers.org/snomedct/403426003	
MONDO:0024352	biolink:Disease	viral respiratory tract infection	A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus.	NCIT:C27219|ICD9:519.8|SCTID:312133006	mondo.json	viral respiratory tract infection	http://purl.obolibrary.org/obo/MONDO_0024352	http://identifiers.org/snomedct/312133006|NCIT:C27219	
MONDO:0012377	biolink:Disease	asperger syndrome, susceptibility to, 4		OMIM:609954	mondo.json	ASPERGER syndrome, susceptibility to, 4|ASPG4|Asperger syndrome susceptibility 4	http://purl.obolibrary.org/obo/MONDO_0012377	https://omim.org/entry/609954	predisposition
MONDO:0012378	biolink:Disease	fibromatosis, gingival, 3		MESH:C537928|OMIM:609955|GARD:0009911	mondo.json	fibromatosis, gingival, hereditary, 3|GGF3|HGF3|hereditary gingival fibromatosis, 3|fibromatosis, gingival, 3|GINGF3|fibromatosis gingival, hereditary, 3|gingival fibromatosis, 3	http://purl.obolibrary.org/obo/MONDO_0012378	https://omim.org/entry/609955|http://identifiers.org/mesh/C537928	
MONDO:0012375	biolink:Disease	autosomal recessive nonsyndromic hearing loss 47	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3.	OMIM:609946|DOID:0110504|UMLS:C1864964|MESH:C566498|GARD:0009935	mondo.json	DFNB47|deafness, autosomal recessive 47|deafness, neurosensory, autosomal recessive 47|autosomal recessive nonsyndromic deafness type 47|autosomal recessive nonsyndromic deafness 47|autosomal recessive deafness 47	http://purl.obolibrary.org/obo/MONDO_0012375	https://omim.org/entry/609946|UMLS:C1864964|http://identifiers.org/mesh/C566498|DOID:0110504	
MONDO:0012376	biolink:Disease	autosomal recessive nonsyndromic hearing loss 55	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2.	GARD:0009919|MESH:C538203|DOID:0110510|OMIM:609952	mondo.json	DFNB55|autosomal recessive nonsyndromic deafness type 55|autosomal recessive nonsyndromic deafness 55|deafness, autosomal recessive 55|autosomal recessive deafness 55	http://purl.obolibrary.org/obo/MONDO_0012376	https://omim.org/entry/609952|http://identifiers.org/mesh/C538203|DOID:0110510	
MONDO:0012379	biolink:Disease	asthma-related traits, susceptibility to, 3		OMIM:609958	mondo.json	ASRT3|asthma-related traits, susceptibility to, type 3|asthma-related traits, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0012379	https://omim.org/entry/609958	predisposition
MONDO:0012370	biolink:Disease	autosomal recessive nonsyndromic hearing loss 51	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12.	DOID:0110508|GARD:0009918|OMIM:609941|MESH:C538202	mondo.json	autosomal recessive deafness 51|autosomal recessive nonsyndromic deafness type 51|DFNB51|autosomal recessive nonsyndromic deafness 51|deafness, autosomal recessive 51	http://purl.obolibrary.org/obo/MONDO_0012370	http://identifiers.org/mesh/C538202|DOID:0110508|https://omim.org/entry/609941	
MONDO:0012373	biolink:Disease	ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features		MESH:C536182|GARD:0009939|UMLS:C1864966|OMIM:609944	mondo.json	ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features	http://purl.obolibrary.org/obo/MONDO_0012373	UMLS:C1864966|http://identifiers.org/mesh/C536182|https://omim.org/entry/609944	gard_rare
MONDO:0012374	biolink:Disease	brachyphalangy, polydactyly, and tibial aplasia/hypoplasia		GARD:0009893|UMLS:C1864965|OMIM:609945|MESH:C537100	mondo.json	brachyphalangy, polydactyly, and tibial aplasia/hypoplasia|brachyphalangy, polydactyly and absent tibiae	http://purl.obolibrary.org/obo/MONDO_0012374	https://omim.org/entry/609945|UMLS:C1864965|http://identifiers.org/mesh/C537100	gard_rare
MONDO:0012371	biolink:Disease	Noonan syndrome 3	Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene.	MESH:C537847|UMLS:C1860991|OMIM:609942|DOID:0060581|GARD:0009885	mondo.json	Noonan syndrome 3|KRAS gene related Noonan syndrome|Noonan syndrome caused by mutation in KRAS|Noonan syndrome type 3|NS3|KRAS Noonan syndrome	http://purl.obolibrary.org/obo/MONDO_0012371	http://identifiers.org/mesh/C537847|UMLS:C1860991|DOID:0060581|https://omim.org/entry/609942	gard_rare
MONDO:0012372	biolink:Disease	obsolete hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features			mondo.json		http://purl.obolibrary.org/obo/MONDO_0012372		
HP:0033062	biolink:PhenotypicFeature	Abnormal factor IX activity	Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.		mondo.json		http://purl.obolibrary.org/obo/HP_0033062		
MONDO:0000377	biolink:Disease	malignant Leydig cell tumor	A Leydig cell tumor characterized by large tumor size, the presence of cytologic atypia, increased mitotic activity, necrosis, and vascular invasion. Approximately 10% of the testicular Leydig cell tumors show malignant characteristics and metastasize. Leydig cell tumors of the ovary follow a benign clinical course.	DOID:0050616|UMLS:C0334410|NCIT:C4213|ICDO:8650/3	mondo.json	malignant neoplasm of Leydig cell|malignant Leydig cell neoplasm|malignant interstitial cell tumor|Leydig cell cancer|Leydig cell tumor, malignant|cancer of Leydig cell|malignant interstitial cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0000377	NCIT:C4213|UMLS:C0334410	
MONDO:0024344	biolink:Disease	pityriasis folliculorum		SCTID:200993008|ICD9:696.5|UMLS:C0406312	mondo.json	pityriasis folliculorum	http://purl.obolibrary.org/obo/MONDO_0024344	http://identifiers.org/snomedct/200993008|UMLS:C0406312	
HP:0008062	biolink:PhenotypicFeature	Aplasia/Hypoplasia affecting the anterior segment of the eye	Absence or underdevelopment of the anterior segment of the eye.	UMLS:C4024739	mondo.json		http://purl.obolibrary.org/obo/HP_0008062		
MONDO:0024343	biolink:Disease	pityriasis simplex		ICD9:690.18|SCTID:200767005	mondo.json	furfuracea|pityriasis simplex|dandruff	http://purl.obolibrary.org/obo/MONDO_0024343	http://identifiers.org/snomedct/200767005	
MONDO:0000376	biolink:Disease	respiratory system cancer	A malignant neoplasm involving the respiratory system	DOID:0050615|ICD9:165.8|SCTID:449096009|ICD9:165.9|UMLS:C3164456	mondo.json	malignant respiratory system neoplasm|cancer of respiratory system|respiratory system cancer|malignant neoplasm of respiratory system	http://purl.obolibrary.org/obo/MONDO_0000376	http://identifiers.org/snomedct/449096009|UMLS:C3164456|DOID:0050615	
MONDO:0000375	biolink:Disease	bronchus carcinoma in situ	A carcinoma in situ involving a bronchus.	DOID:0050614|SCTID:92557009|UMLS:C2939445	mondo.json	bronchus in situ carcinoma|carcinoma in situ of bronchus|stage 0 bronchus carcinoma	http://purl.obolibrary.org/obo/MONDO_0000375	UMLS:C2939445|DOID:0050614|http://identifiers.org/snomedct/92557009	
MONDO:0024346	biolink:Disease	pityriasis amiantacea		ICD9:696.5|SCTID:238924007|UMLS:C0343100	mondo.json	pityriasis amiantacea|tinea amiantacea	http://purl.obolibrary.org/obo/MONDO_0024346	http://identifiers.org/snomedct/238924007|UMLS:C0343100	
MONDO:0000374	biolink:Disease	bile duct carcinoma in situ	A carcinoma in situ involving a bile duct.	DOID:0050613	mondo.json	stage 0 bile duct carcinoma|bile duct in situ carcinoma|carcinoma in situ of bile duct	http://purl.obolibrary.org/obo/MONDO_0000374	DOID:0050613	
HP:0008063	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the lens	Absence or underdevelopment of the lens.	UMLS:C4024738	mondo.json	Absent/underdeveloped lens|Absent/small lens	http://purl.obolibrary.org/obo/HP_0008063		
MONDO:0024345	biolink:Disease	pityriasis streptogenes		ICD9:696.5|SCTID:200994002	mondo.json	pityriasis streptogenes	http://purl.obolibrary.org/obo/MONDO_0024345	http://identifiers.org/snomedct/200994002	
MONDO:0024348	biolink:Disease	obsolete pityriasis capitis		SCTID:400201008	mondo.json	pityriasis capitis	http://purl.obolibrary.org/obo/MONDO_0024348	http://identifiers.org/snomedct/400201008	
MONDO:0000379	biolink:Disease	malignant Sertoli-Leydig cell tumor	A malignant form of Sertoli-leydig cell tumor.	DOID:0050618	mondo.json	Sertoli-Leydig cell tumor, malignant	http://purl.obolibrary.org/obo/MONDO_0000379		
MONDO:0000378	biolink:Disease	malignant Sertoli cell tumor	A Sertoli cell tumor of the testis or the ovary which metastasizes to another anatomic site.	ICDO:8630/3|DOID:0050617|ICDO:8640/3|NCIT:C67006|UMLS:C0334406	mondo.json	Sertoli cell tumor, malignant|malignant Androblastoma	http://purl.obolibrary.org/obo/MONDO_0000378	NCIT:C67006|UMLS:C0334406	
MONDO:0024349	biolink:Disease	pityriasis alba		SCTID:402296004|ICD9:696.5	mondo.json	pityriasis alba	http://purl.obolibrary.org/obo/MONDO_0024349	http://identifiers.org/snomedct/402296004	
CHEBI:63473	biolink:ChemicalSubstance	aromatic amino-acid anion	An aromatic amino acid whose alpha-carboxylic acid group is ionized (non-protonated).		mondo.json	aromatic amino-acid anions	http://purl.obolibrary.org/obo/CHEBI_63473		
CHR:9606-chr8q12.1-q21.2	biolink:NamedThing	8q12.1-q21.2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr8q12.1-q21.2		
MONDO:0024340	biolink:Disease	retinal neuroblastoma	A neuroblastoma arising from the retina.	NCIT:C6956	mondo.json	retina neuroblastoma|neuroblastoma of retina|neuroblastoma of the retina|retinal neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0024340	NCIT:C6956	
MONDO:0000373	biolink:Disease	gall bladder carcinoma in situ	A carcinoma in situ involving a gall bladder.	DOID:0050612	mondo.json	gall bladder in situ carcinoma|carcinoma in situ of gall bladder|stage 0 gall bladder carcinoma	http://purl.obolibrary.org/obo/MONDO_0000373	DOID:0050612	
MONDO:0000372	biolink:Disease	pharynx carcinoma in situ	Stage 0 carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions.	NCIT:C4942|SCTID:92681005|DOID:0050611|UMLS:C0347098	mondo.json	carcinoma in situ of pharynx|carcinoma in situ of the pharynx|pharynx carcinoma in situ|pharynx in situ carcinoma|stage 0 pharynx carcinoma|stage 0 pharyngeal carcinoma|pharyngeal carcinoma in situ|pharyngeal cancer stage 0|stage 0 pharyngeal cancer|stage 0 pharyngeal throat cancer|stage 0 carcinoma of the pharynx|stage 0 carcinoma of pharynx	http://purl.obolibrary.org/obo/MONDO_0000372	NCIT:C4942|DOID:0050611|http://identifiers.org/snomedct/92681005|UMLS:C0347098	
MONDO:0000371	biolink:Disease	oral cavity carcinoma in situ	A in situ carcinoma that involves the oral cavity.	NCIT:C4587|SCTID:92660005|DOID:0050610|UMLS:C0347073	mondo.json	carcinoma in situ of the mouth|carcinoma in situ of mouth|stage 0 oral cavity cancer|stage 0 oral cavity cancer aJCC v6 and v7|mouth carcinoma in situ|stage 0 oral cavity carcinoma|oral cavity in situ carcinoma|stage 0 mouth carcinoma|stage 0 carcinoma of the oral cavity|stage 0 carcinoma of oral cavity|stage 0 oral cavity cancer aJCC v7|stage 0 carcinoma of the mouth|stage 0 carcinoma of mouth|stage 0 oral cavity cancer aJCC v6|carcinoma in situ of the oral cavity|carcinoma in situ of oral cavity	http://purl.obolibrary.org/obo/MONDO_0000371	NCIT:C4587|http://identifiers.org/snomedct/92660005|DOID:0050610|UMLS:C0347073	
MONDO:0024341	biolink:Disease	retinal cell neoplasm	A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma.	NCIT:C7061|UMLS:C1335765	mondo.json	retinal neural cell neoplasm|retinal cell tumor|retinal cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0024341	UMLS:C1335765|NCIT:C7061	
MONDO:0000370	biolink:Disease	obsolete Askin's tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000370		
MONDO:0012366	biolink:Disease	gallbladder disease 3		UMLS:C1835924|OMIM:609919|MESH:C563686	mondo.json	gallbladder disease 3|GBD3	http://purl.obolibrary.org/obo/MONDO_0012366	https://omim.org/entry/609919|UMLS:C1835924|http://identifiers.org/mesh/C563686	
MONDO:0012367	biolink:Disease	retinitis pigmentosa 31	Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene.	OMIM:609923|MESH:C563685|DOID:0110391|ICD10CM:H35.5|UMLS:C1835923|GARD:0010396	mondo.json	RP 31|TOPORS retinitis pigmentosa|retinitis pigmentosa type 31|RP31|retinitis pigmentosa 31|retinitis pigmentosa caused by mutation in TOPORS	http://purl.obolibrary.org/obo/MONDO_0012367	https://omim.org/entry/609923|UMLS:C1835923|DOID:0110391|http://identifiers.org/mesh/C563685	gard_rare
MONDO:0012364	biolink:Disease	dilated cardiomyopathy 1Q	A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1.	DOID:0110442|MESH:C563688|OMIM:609915|UMLS:C1835926	mondo.json	cardiomyopathy, dilated, 1Q|dilated cardiomyopathy type 1Q|CMD1Q	http://purl.obolibrary.org/obo/MONDO_0012364	https://omim.org/entry/609915|UMLS:C1835926|DOID:0110442|http://identifiers.org/mesh/C563688	
MONDO:0012365	biolink:Disease	gallbladder disease 2		MESH:C563687|OMIM:609918|UMLS:C1835925	mondo.json	GBD2|gallbladder disease 2	http://purl.obolibrary.org/obo/MONDO_0012365	https://omim.org/entry/609918|UMLS:C1835925|http://identifiers.org/mesh/C563687	
MONDO:0012368	biolink:Disease	aminoacylase 1 deficiency	Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.	MESH:C538246|OMIM:609924|GARD:0009741|SCTID:709282004|UMLS:C1835922|Orphanet:137754|ICD9:270.8|EFO:1001981	mondo.json	ACY1D|N-acyl-L-amino acid amidohydrolase deficiency|neurological conditions associated with aminoacylase 1 deficiency|aminoacylase 1 deficiency|ACY1 deficiency|deficiency of the aminoacylase-1 enzyme	http://purl.obolibrary.org/obo/MONDO_0012368	https://omim.org/entry/609924|UMLS:C1835922|Orphanet:137754|http://identifiers.org/mesh/C538246|http://identifiers.org/snomedct/709282004	ordo_disease|gard_rare
MONDO:0012369	biolink:Disease	systemic lupus erythematosus, susceptibility to, 6		OMIM:609939	mondo.json	systemic lupus erythematosus, susceptibility to, 6|SLEB6	http://purl.obolibrary.org/obo/MONDO_0012369	https://omim.org/entry/609939	predisposition
MONDO:0012362	biolink:Disease	dilated cardiomyopathy 1P	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.	DOID:0110439|MESH:C563690|OMIM:609909|UMLS:C1835928	mondo.json	dilated cardiomyopathy type 1P|CMD1P|cardiomyopathy, dilated, 1P|cardiomyopathy, dilated, type 1P|familial isolated dilated cardiomyopathy caused by mutation in PLN|PLN familial isolated dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0012362	https://omim.org/entry/609909|UMLS:C1835928|DOID:0110439|http://identifiers.org/mesh/C563690	
HP:0008055	biolink:PhenotypicFeature	Aplasia/Hypoplasia affecting the uvea	Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid.	UMLS:C4024746	mondo.json	Absent/underdeveloped uvea	http://purl.obolibrary.org/obo/HP_0008055		
MONDO:0012363	biolink:Disease	retinitis pigmentosa 32	A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3.	ICD10CM:H35.5|MESH:C563689|UMLS:C1835927|OMIM:609913|GARD:0010395|DOID:0110355	mondo.json	retinitis pigmentosa 32|RP32|retinitis pigmentosa type 32	http://purl.obolibrary.org/obo/MONDO_0012363	https://omim.org/entry/609913|UMLS:C1835927|DOID:0110355|http://identifiers.org/mesh/C563689	gard_rare
MONDO:0012360	biolink:Disease	congenital nongoitrous hypothryoidism 3	A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has material basis in variation in the chromosome region 15q25.3-q26.1.	UMLS:C2940785|MESH:C567935|DOID:0070127|OMIM:609893	mondo.json	thyrotropin resistance|CHNG3|hypothyroidism, congenital, nongoitrous, 3|congenital nongoitrous hypothyroidism 3|resistance to thyrotropin	http://purl.obolibrary.org/obo/MONDO_0012360	UMLS:C2940785|http://identifiers.org/mesh/C567935|DOID:0070127|https://omim.org/entry/609893	
MONDO:0012361	biolink:Disease	systemic lupus erythematosus, susceptibility to, 5		OMIM:609903	mondo.json	systemic lupus erythematosus, susceptibility to, 5|SLEB5	http://purl.obolibrary.org/obo/MONDO_0012361	https://omim.org/entry/609903	predisposition
HP:0008056	biolink:PhenotypicFeature	Aplasia/Hypoplasia affecting the eye		UMLS:C4024745	mondo.json	Absent/underdeveloped eye|Absent/small eye	http://purl.obolibrary.org/obo/HP_0008056		
OBO:MAXO_0000647	biolink:NamedThing	chemotherapy	The use of synthetic or naturally-occurring chemicals for the treatment of diseases.		mondo.json	chemotherapeutic drug treatment|chemotherapeutic agent treatment|treatment with a chemotherapeutic drug|treatment with a chemotherapeutic agent|treatment with a chemotherapeutic medication	http://purl.obolibrary.org/obo/MAXO_0000647		
MONDO:0024333	biolink:Disease	sciatica	A condition characterized by pain radiating from the back into the buttock and posterior/lateral aspects of the leg. Sciatica may be a manifestation of sciatic neuropathy; radiculopathy (involving the spinal nerve roots; L4, L5, S1, or S2, often associated with intervertebral disk displacement); or lesions of the cauda equina.	SCTID:23056005|ICD9:724.3|MESH:D012585	mondo.json	sciatic neuralgia|neuralgia, sciatic|sciatica, bilateral|neuralgias, sciatic|sciatic Neuralgias|bilateral sciatica|bilateral sciaticas	http://purl.obolibrary.org/obo/MONDO_0024333	http://identifiers.org/snomedct/23056005|http://identifiers.org/mesh/D012585	
MONDO:0000388	biolink:Disease	obsolete anonychia congenita			mondo.json	hyponychia congenita	http://purl.obolibrary.org/obo/MONDO_0000388		
MONDO:0000387	biolink:Disease	hypochromic microcytic anemia	Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic).	HP:0004840|UMLS:C0271901|SCTID:44666001|DOID:0050642|MESH:C536357	mondo.json	hypochromic microcytic anemia|hypochromic microcytic anemia (disease)	http://purl.obolibrary.org/obo/MONDO_0000387	http://identifiers.org/snomedct/44666001|UMLS:C0271901|http://identifiers.org/mesh/C536357|DOID:0050642	
MONDO:0024332	biolink:Disease	perennial allergic rhinitis	Allergic rhinitis caused by indoor allergens and lasting year round.	NCIT:C92189|UMLS:C0035457|MESH:D012221|SCTID:446096008	mondo.json	perennial allergic rhinitis|nonseasonal allergic rhinitis|non-seasonal allergic rhinitis	http://purl.obolibrary.org/obo/MONDO_0024332	http://identifiers.org/snomedct/446096008|http://identifiers.org/mesh/D012221|NCIT:C92189|UMLS:C0035457	
MONDO:0024335	biolink:Disease	retrobulbar neuritis		SCTID:230507009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024335	http://identifiers.org/snomedct/230507009	
MONDO:0000386	biolink:Disease	digestive system neuroendocrine tumor, grade 1/2	A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas.	DOID:0050626|ONCOTREE:GINET|UMLS:C2987127|NCIT:C95404	mondo.json	digestive system well differentiated neuroendocrine tumor|gastrointestinal neuroendocrine tumor|gastroenteropancreatic NET|gastrointestinal system neuroendocrine tumor|gastroenteropancreatic neuroendocrine tumor|gastrointestinal NET|malignant gastrointestinal neuroendocrine tumor|gastrointestinal neuroendocrine tumors|digestive system NET|digestive system neuroendocrine tumor|GINET|alimentary part of gastrointestinal system neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0000386	NCIT:C95404|DOID:0050626	
MONDO:0000385	biolink:Disease	benign digestive system neoplasm	A non-metastasizing neoplasm arising from any part of the digestive system.	NCIT:C4787|DOID:0050624|UMLS:C0497538	mondo.json	benign tumor of GI system|alimentary part of gastrointestinal system benign neoplasm|gastrointestinal system benign neoplasm|benign gastrointestinal neoplasm|benign GI tumor|benign GI neoplasm|benign gastrointestinal tumor|benign tumor of digestive system|benign tumor of the digestive system|benign neoplasm of digestive system|benign GI system neoplasm|benign neoplasm of gastrointestinal system|benign neoplasm of the digestive system|benign digestive system tumor|benign tumor of the gastrointestinal system|benign gastrointestinal system tumor|benign tumor of gastrointestinal system|benign GI system tumor|benign tumor of the GI system	http://purl.obolibrary.org/obo/MONDO_0000385	NCIT:C4787|DOID:0050624|UMLS:C0497538	
MONDO:0024334	biolink:Disease	peripheral nerve lesion			mondo.json		http://purl.obolibrary.org/obo/MONDO_0024334		
MONDO:0024337	biolink:Disease	urothelial neoplasm	A neoplasm involving a urothelium.	UMLS:C1519840|NCIT:C39852	mondo.json	urothelial neoplasm|urothelium neoplasm (disease)|transitional cell neoplasm of the urinary tract|neoplasm of urothelium|urothelium tumor|urothelium neoplasm|tumor of urothelium	http://purl.obolibrary.org/obo/MONDO_0024337	UMLS:C1519840|NCIT:C39852	
MONDO:0024336	biolink:Disease	vulvar adenocarcinoma	An adenocarcinoma that arises from the vulva. Representative examples include Bartholin gland adenocarcinoma, eccrine adenocarcinoma, apocrine adenocarcinoma, and sebaceous carcinoma.	DOID:2098|UMLS:C1336975|NCIT:C6380|Orphanet:494454	mondo.json	vulvar adenocarcinoma|adenocarcinoma of the vulva|adenocarcinoma of vulva|mammalian vulva adenocarcinoma|vulva adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0024336	NCIT:C6380|UMLS:C1336975|Orphanet:494454|DOID:2098	
MONDO:0024339	biolink:Disease	lymph node neoplasm	A neoplasm involving a lymph node.	GARD:0006932|NCIT:C35497	mondo.json	neoplasm of lymph node|lymph node tumor|lymph node neoplasm|lymph node neoplasm (disease)|tumor of lymph node	http://purl.obolibrary.org/obo/MONDO_0024339	NCIT:C35497	
HP:0008071	biolink:PhenotypicFeature	Maternal hypertension	Increased blood pressure during a pregnancy.	UMLS:C0565599|SNOMEDCT_US:288250001	mondo.json		http://purl.obolibrary.org/obo/HP_0008071		
HP:0008070	biolink:PhenotypicFeature	Sparse hair	Reduced density of hairs.	UMLS:C1837770|MSH:D007039|MEDDRA:10021126|SNOMEDCT_US:56558005|UMLS:C0020678|UMLS:C1860844|SNOMEDCT_US:53602002	mondo.json	Decreased hair growth on body|Hypotrichosis|Sparse hair since birth|Decreased hair growth|Marked hypotrichosis|Sparse hair|Thin, sparse hair	http://purl.obolibrary.org/obo/HP_0008070		hposlim_core
MONDO:0000389	biolink:Disease	atelosteogenesis		SCTID:43814000|DOID:0050648|OMIMPS:108720|UMLS:CN163181	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000389	https://omim.org/phenotypicSeries/PS108720|UMLS:CN163181|DOID:0050648|http://identifiers.org/snomedct/43814000	
MONDO:0024338	biolink:Disease	mucinous neoplasm		UMLS:C1334811|NCIT:C7070	mondo.json	mucinous tumor|mucinous neoplasm	http://purl.obolibrary.org/obo/MONDO_0024338	UMLS:C1334811|NCIT:C7070	
MONDO:0000380	biolink:Disease	paranasal sinus carcinoma	A malignant epithelial neoplasm arising in the paranasal sinus.	NCIT:C6014|UMLS:C0854995|DOID:0050619|NCIT:C6019|UMLS:C1335337	mondo.json	malignant paranasal sinus neoplasm|accessory sinus cancer|adenoid cystic carcinoma of paranasal sinus|carcinoma of paranasal sinus|accessory sinus carcinoma|cancer of paranasal sinus|paranasal sinus mucoepidermoid carcinoma|paranasal sinus adenoid cystic carcinoma|squamous cell carcinoma of paranasal sinus|malignant neoplasm of paranasal sinus|carcinoma of the accessory sinus|carcinoma of accessory sinus|paranasal sinus carcinoma|adenoid cystic carcinoma of accessory sinus|mucoepidermoid carcinoma of accessory sinus|paranasal sinus adenocarcinoma|epidermoid carcinoma of the paranasal sinus|paranasal sinus cancer|paranasal sinus squamous cell carcinoma|carcinoma of the paranasal sinus	http://purl.obolibrary.org/obo/MONDO_0000380	DOID:0050619|NCIT:C6014|UMLS:C0854995	
MONDO:0000384	biolink:Disease	bladder benign neoplasm	A benign abnormal growth of the cells that comprise the bladder.	UMLS:C0154017|DOID:0050623|NCIT:C3618|ICD9:223.3|SCTID:91992005	mondo.json	benign tumor of the bladder|benign urinary bladder neoplasm|benign bladder tumor|benign tumor of bladder|urinary bladder benign neoplasm|benign neoplasm of the urinary bladder|benign neoplasm of urinary bladder|benign tumor of the urinary bladder|benign urinary bladder tumor|benign bladder neoplasm|benign tumor of urinary bladder|benign neoplasm of the bladder|benign neoplasm of bladder	http://purl.obolibrary.org/obo/MONDO_0000384	NCIT:C3618|DOID:0050623|UMLS:C0154017|http://identifiers.org/snomedct/91992005	
MONDO:0000383	biolink:Disease	benign reproductive system neoplasm	A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor.	DOID:0050622|UMLS:C1332536|NCIT:C7617	mondo.json	benign reproductive system neoplasm|reproductive organ benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000383	UMLS:C1332536|DOID:0050622|NCIT:C7617	
MONDO:0024331	biolink:Disease	colorectal carcinoma	A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.	UMLS:CN221574|DOID:0080199|NCIT:C2955	mondo.json	cancer of large bowel|colorectal cancer|carcinoma of the large bowel|carcinoma of large bowel|large intestine carcinoma|cancer of the large intestine|large intestine cancer|colorectal (colon or rectal) cancer|cancer of large intestine|carcinoma of colorectum|carcinoma of the large intestine|colorectal carcinoma|carcinoma of large intestine|colorectum carcinoma|large bowel carcinoma|CRC|large bowel cancer|cancer of the large bowel	http://purl.obolibrary.org/obo/MONDO_0024331	UMLS:CN221574|DOID:0080199|NCIT:C2955	
MONDO:0000382	biolink:Disease	respiratory system benign neoplasm	A benign neoplasm that involves the respiratory system.	UMLS:C0497556|SCTID:255166003|DOID:0050621	mondo.json	respiratory system benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000382	http://identifiers.org/snomedct/255166003|DOID:0050621|UMLS:C0497556	
MONDO:0024330	biolink:Disease	infectious otitis media	Inflammation of the anatomical structures of the middle ear secondary to an infectious process. Bacterial etiology is most common, but both viral and fungal pathogens are also possible. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. In severe infections, inflammation and edema of the structures of the middle ear can lead to perforation of the tympanic membrane secondary to the buildup of pressure in the narrow space.	NCIT:C84354|UMLS:C2827407|UMLS:C0271429	mondo.json	infectious otitis Media|otitis media|AOM|middle Ear infection|acute otitis Media	http://purl.obolibrary.org/obo/MONDO_0024330	NCIT:C84354|UMLS:C0271429|UMLS:C2827407	
MONDO:0000381	biolink:Disease	infiltrating renal pelvis transitional cell carcinoma	A infiltrating urothelial carcinoma that involves the renal pelvis.	DOID:0050620	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000381	DOID:0050620	
MONDO:0012355	biolink:Disease	autosomal recessive nonsyndromic hearing loss 28	An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss.	UMLS:C1853276|OMIM:609823|DOID:0110486|MESH:C565218|NCIT:C129023	mondo.json	deafness, autosomal recessive type 28|deafness, autosomal recessive 28|autosomal recessive nonsyndromic deafness caused by mutation in TRIOBP|autosomal recessive deafness 28|TRIOBP autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness 28|DFNB28|autosomal recessive nonsyndromic deafness type 28	http://purl.obolibrary.org/obo/MONDO_0012355	https://omim.org/entry/609823|NCIT:C129023|http://identifiers.org/mesh/C565218|DOID:0110486|UMLS:C1853276	
MONDO:0012356	biolink:Disease	obsolete glomerulocystic kidney disease with hyperuricemia and isosthenuria			mondo.json		http://purl.obolibrary.org/obo/MONDO_0012356		
MONDO:0012353	biolink:Disease	erythrocytosis, familial, 3	Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene.	DOID:0080338|OMIM:609820|MESH:C565221|UMLS:C1853286	mondo.json	erythrocytosis, familial, 3|erythrocytosis, familial, type 3|EGLN1 familial polycythemia|familial polycythemia caused by mutation in EGLN1|ECYT3	http://purl.obolibrary.org/obo/MONDO_0012353	https://omim.org/entry/609820|DOID:0080338|http://identifiers.org/mesh/C565221|UMLS:C1853286	
MONDO:0012354	biolink:Disease	platelet-type bleeding disorder 8	P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.	OMIM:609821|SCTID:725291001|GARD:0012478|UMLS:C1853278|MESH:C565220|Orphanet:36355|DOID:0060692	mondo.json	P2Y12 defect|bleeding disorder, platelet-type 8|bleeding disorder, platelet-type, 8|ADP platelet receptor P2Y12 defect|BDPLT8|bleeding disorder due to P2Ry12 defect|platelet-type bleeding disorder 8|bleeding disorder due to P2Rx1 defect, somatic	http://purl.obolibrary.org/obo/MONDO_0012354	Orphanet:36355|DOID:0060692|https://omim.org/entry/609821|http://identifiers.org/snomedct/725291001|http://identifiers.org/mesh/C565220|UMLS:C1853278	ordo_disease
MONDO:0012359	biolink:Disease	combined immunodeficiency due to partial RAG1 deficiency	A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.	OMIM:609889|MESH:C563691|UMLS:C4510944|UMLS:C1835931|Orphanet:231154|SCTID:725290000	mondo.json	CID due to partial RAG1 deficiency|combined immunodeficiency with expansion of gamma delta T cells|CID with expansion of gamma delta T cells|alpha/beta T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity	http://purl.obolibrary.org/obo/MONDO_0012359	http://identifiers.org/mesh/C563691|https://omim.org/entry/609889|UMLS:C1835931|UMLS:C4510944|Orphanet:231154|http://identifiers.org/snomedct/725290000	ordo_disease
MONDO:0012357	biolink:Disease	glaucoma 1, open angle, G	Any open-angle glaucoma in which the cause of the disease is a mutation in the WDR36 gene.	OMIM:609887|UMLS:C1835933|MESH:C563692	mondo.json	open-angle glaucoma caused by mutation in WDR36|GLC1G|glaucoma 1, open angle, type G|glaucoma 1, open angle, G|WDR36 open-angle glaucoma	http://purl.obolibrary.org/obo/MONDO_0012357	http://identifiers.org/mesh/C563692|https://omim.org/entry/609887|UMLS:C1835933	obsoletion_candidate
MONDO:0012358	biolink:Disease	leprosy, susceptibility to, 1		OMIM:609888	mondo.json	leprosy, susceptibility to, 1|LPRS1|leprosy, paucibacillary type, susceptibility to|leprosy, Paucibacillary type, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0012358	https://omim.org/entry/609888	predisposition
HP:0008066	biolink:PhenotypicFeature	Abnormal blistering of the skin	The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.	UMLS:C2220104|UMLS:C2132198|UMLS:C0241054	mondo.json	Blisters|Blister|Abnormal blistering of the skin|Skin bullae|Blistering, generalised|Skin blisters|Blistering, generalized	http://purl.obolibrary.org/obo/HP_0008066		
MONDO:0012351	biolink:Disease	zygodactyly type 1		UMLS:C1853294|OMIM:609815|MESH:C565223|Orphanet:295187	mondo.json	syndactyly type 1a|Zygodactyly, Weidenreich type|SD1, Weidenreich type|Zd1|SD1a|syndactyly type 1, Weidenreich type|zygodactyly type 1|ZYGODACTYLY 1	http://purl.obolibrary.org/obo/MONDO_0012351	https://omim.org/entry/609815|http://identifiers.org/mesh/C565223|Orphanet:295187|UMLS:C1853294	ordo_clinical_subtype
MONDO:0012352	biolink:Disease	vasculitis, lymphocytic, cutaneous small vessel		OMIM:609817|UMLS:C1853293|MESH:C565222	mondo.json	vasculitis, lymphocytic, cutaneous small vessel	http://purl.obolibrary.org/obo/MONDO_0012352	https://omim.org/entry/609817|http://identifiers.org/mesh/C565222|UMLS:C1853293	
MONDO:0012350	biolink:Disease	complement factor H deficiency		ICD9:279.8|MESH:C562875|SCTID:234622003|OMIM:609814|Orphanet:93571	mondo.json	CFHD|complement factor H deficiency|Cfh deficiency|factor H deficiency	http://purl.obolibrary.org/obo/MONDO_0012350	https://omim.org/entry/609814|http://identifiers.org/mesh/C562875|http://identifiers.org/snomedct/234622003	
HP:0045058	biolink:PhenotypicFeature	Abnormality of the testis size	An anomaly of the size of the testicle (the male gonad).	UMLS:C4073180	mondo.json		http://purl.obolibrary.org/obo/HP_0045058		
CHR:9606-chr2p13	biolink:NamedThing	2p13 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr2p13		
CHR:9606-chr2p16	biolink:NamedThing	2p16 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr2p16		
HGNC:15718	biolink:NamedThing	APCDD1			mondo.json		http://identifiers.org/hgnc/15718		
CL:1001225	biolink:Cell	kidney collecting duct cell		Wikipedia:Kidney_collecting_duct_cell|KUPO:0001012	mondo.json		http://purl.obolibrary.org/obo/CL_1001225		
CHR:9606-chr2p21	biolink:NamedThing	2p21 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr2p21		
MONDO:0024390	biolink:Disease	obsolete actinomycotic infectious disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0024390		
MONDO:0024392	biolink:Disease	anaerobic balanitis		SCTID:236746000|UMLS:C0403764	mondo.json	anaerobic balanitis	http://purl.obolibrary.org/obo/MONDO_0024392	http://identifiers.org/snomedct/236746000|UMLS:C0403764	
CHR:9606-chr17q11	biolink:NamedThing	17q11 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr17q11		
CHR:9606-chr17q12	biolink:NamedThing	17q12 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr17q12		
MONDO:0024388	biolink:Disease	Clostridium infectious disease	Infections with bacteria of the genus clostridium.	ICD9:040.89|EFO:1000874|MESH:D003015|SCTID:56688005	mondo.json	Clostridium infection|commensal Clostridium infection|infections, Clostridium|commensal infections, Clostridium|infection, Clostridium|commensal infection, Clostridium	http://purl.obolibrary.org/obo/MONDO_0024388	http://identifiers.org/mesh/D003015|http://identifiers.org/snomedct/56688005	
MONDO:0024387	biolink:Disease	benign ovarian sex cord-stromal tumor	A sex cord-stromal tumor arising from the ovary, without metastatic potential.	UMLS:C1332528|DOID:0080370|NCIT:C6803	mondo.json	ovarian sex cord-stromal tumor, benign|ovarian SEX cord-stromal tumor, benign|Sex cord stromal tumor, benign|benign Sex cord-stromal tumor of the ovary|benign Sex cord-stromal tumor of ovary|benign ovarian Sex cord-stromal neoplasm|benign Sex cord-stromal neoplasm of the ovary|benign Sex cord-stromal neoplasm of ovary|benign ovarian Sex cord-stromal tumor	http://purl.obolibrary.org/obo/MONDO_0024387	DOID:0080370|UMLS:C1332528|NCIT:C6803	
MONDO:0024389	biolink:Disease	anaerobic bacteria infectious disease		UMLS:C0854328|ICD9:041.84|SCTID:423451008	mondo.json	infection due to anaerobic bacteria|anaerobic bacterial infection|infection caused by anaerobic bacteria	http://purl.obolibrary.org/obo/MONDO_0024389	UMLS:C0854328|http://identifiers.org/snomedct/423451008	
MONDO:0024382	biolink:Disease	circadian rhythm sleep disorder, shift work type	A circadian sleep disorder that occurs when work schedules force people to be awake when their circadian rhythms dictate that they should be sleeping. It is classified as a Circadian Rhythm Disorder (CRD) and is extrinsic, i.e. caused by external behavioral factors.	SCTID:713498009|ICD10CM:G47.26	mondo.json	shift work disorder|circadian rhythm sleep disorder of shift work type	http://purl.obolibrary.org/obo/MONDO_0024382	http://purl.bioontology.org/ontology/ICD10CM/G47.26|http://identifiers.org/snomedct/713498009	
MONDO:0024381	biolink:Disease	circadian rhythm sleep disorder, jet lag type	A circadian sleep disorder that results from travelling across time zones.	ICD10CM:G47.25|UMLS:C0231311	mondo.json	jet lag	http://purl.obolibrary.org/obo/MONDO_0024381	http://purl.bioontology.org/ontology/ICD10CM/G47.25|UMLS:C0231311	
MONDO:0024384	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0024384		
MONDO:0024386	biolink:Disease	large cell lung carcinoma, clear cell variant	A morphologic variant of large cell lung carcinoma characterized by a predominance of clear cells that may or may not contain glycogen.	ONCOTREE:CCLC|NCIT:C4451|UMLS:C1707407	mondo.json	clear cell carcinoma of the lung|clear cell lung carcinoma, large cell type|clear cell carcinoma of the lung, large cell type|clear cell carcinoma of lung, large cell type|large cell lung carcinoma, clear cell variant	http://purl.obolibrary.org/obo/MONDO_0024386	UMLS:C1707407|NCIT:C4451	
MONDO:0024385	biolink:Disease	obsolete arenavirus infectious disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0024385		
GO:1905902	biolink:NamedThing	regulation of mesoderm formation	Any process that modulates the frequency, rate or extent of mesoderm formation.		mondo.json		http://purl.obolibrary.org/obo/GO_1905902		
GO:1905903	biolink:NamedThing	negative regulation of mesoderm formation	Any process that stops, prevents or reduces the frequency, rate or extent of mesoderm formation.		mondo.json	down regulation of mesoderm formation|inhibition of mesoderm formation|down-regulation of mesoderm formation|downregulation of mesoderm formation	http://purl.obolibrary.org/obo/GO_1905903		
HP:0045005	biolink:PhenotypicFeature	Neural tube defect	A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine.	MSH:D009436|UMLS:C0027794|SNOMEDCT_US:253098009	mondo.json	Abnormality of neural tube closure	http://purl.obolibrary.org/obo/HP_0045005		
NCBITaxon:2697495	biolink:OrganismalEntity	Spiralia		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2697495		
GO:1905904	biolink:NamedThing	positive regulation of mesoderm formation	Any process that activates or increases the frequency, rate or extent of mesoderm formation.		mondo.json	upregulation of mesoderm formation|up regulation of mesoderm formation|activation of mesoderm formation|up-regulation of mesoderm formation	http://purl.obolibrary.org/obo/GO_1905904		
MONDO:0024377	biolink:Disease	circadian rhythm sleep disorder, delayed sleep phase type	A circadian sleep disorder in which the individual's internal body clock is delayed with respect to the external day/night cycle.	UMLS:C0393770|ICD10CM:G47.21|DOID:0111141|SCTID:28011000119104|SCTID:80623000	mondo.json	DSPD|sleep-wake schedule disorder, delayed phase|sleepwake schedule disorder, delayed phase|DSPS|delayed sleep phase syndrome|sleep wake schedule disorder, delayed phase type	http://purl.obolibrary.org/obo/MONDO_0024377	http://identifiers.org/snomedct/80623000|DOID:0111141|http://purl.bioontology.org/ontology/ICD10CM/G47.21|UMLS:C0393770	
MONDO:0024376	biolink:Disease	sleep disorder, initiating and maintaining sleep		SCTID:194437008	mondo.json	disorders of initiating and maintaining sleep	http://purl.obolibrary.org/obo/MONDO_0024376	http://identifiers.org/snomedct/194437008	
MONDO:0024379	biolink:Disease	circadian rhythm sleep disorder, irregular sleep wake type	A circadian sleep disorder characterized by at least three sleep episodes per 24-hour period, irregularly from day to day.	UMLS:C0393771|ICD10CM:G47.23|ICD9:327.33|SCTID:271793004	mondo.json	irregular sleep-wake disorder|ISWD|irregular sleep-wake pattern	http://purl.obolibrary.org/obo/MONDO_0024379	UMLS:C0393771|http://identifiers.org/snomedct/271793004|http://purl.bioontology.org/ontology/ICD10CM/G47.23	
MONDO:0024378	biolink:Disease	circadian rhythm sleep disorder, advanced sleep phase type	A circadian sleep disorder characterized by bedtime and wake-up time much earlier than normal, although sleep quality is normal.	ICD10CM:G47.22|ICD9:327.32|SCTID:31537005	mondo.json	sleep-wake schedule disorder, advanced phase type|circadian rhythm sleep disorder, advanced sleep phase type|circadian rhythm sleep disorder, advanced sleep phase|advanced sleep phase syndrome|ASPS	http://purl.obolibrary.org/obo/MONDO_0024378	http://identifiers.org/snomedct/31537005|http://purl.bioontology.org/ontology/ICD10CM/G47.22	
MONDO:0012399	biolink:Disease	complex cortical dysplasia with other brain malformations 7	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene.	GARD:10783|UMLS:CN203403|DOID:0090132|OMIM:610031|Orphanet:300573	mondo.json	cortical dysplasia, Complex, with Other brain malformations 7|cortical dysplasia, COMPLEX, with OTHER brain malformations 7|PMGYSA|polymicrogyria, symmetric or asymmetric|TUBB2B complex cortical dysplasia with other brain malformations|polymicrogyria due to TUBB2B mutation|complex cortical dysplasia with other brain malformations caused by mutation in TUBB2B|CDCBM7|complex cortical dysplasia with other brain malformations type 7	http://purl.obolibrary.org/obo/MONDO_0012399	https://omim.org/entry/610031|DOID:0090132|Orphanet:300573|UMLS:CN203403	ordo_malformation_syndrome
HGNC:15714	biolink:NamedThing	LRPPRC			mondo.json		http://identifiers.org/hgnc/15714		
MONDO:0012397	biolink:Disease	brachydactyly, coloboma, and anterior segment dysgenesis		UMLS:C1864901|OMIM:610023|MESH:C566484	mondo.json	brachydactyly, coloboma, and anterior segment dysgenesis	http://purl.obolibrary.org/obo/MONDO_0012397	http://identifiers.org/mesh/C566484|UMLS:C1864901|https://omim.org/entry/610023	
MONDO:0012398	biolink:Disease	retinal cone dystrophy 3A		OMIM:610024|UMLS:C1864900|MESH:C566483|GARD:0010648	mondo.json	retinal cone dystrophy 3|cone dystrophy with night blindness and supernormal rod responses PDE6H-related|achromatopsia 6|cone dystrophy with night blindness and supernormal Rod responses, Pde6H-related|RCD3A|retinal cone dystrophy type 3A|retinal cone dystrophy 3A	http://purl.obolibrary.org/obo/MONDO_0012398	https://omim.org/entry/610024|http://identifiers.org/mesh/C566483|UMLS:C1864900	gard_rare
HGNC:15710	biolink:NamedThing	LDB3			mondo.json		http://identifiers.org/hgnc/15710		
MONDO:0012391	biolink:Disease	neuronal ceroid lipofuscinosis 8 northern epilepsy variant	Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.	DOID:0110724|Orphanet:1947|GARD:0002163|GARD:0004010|OMIM:600143|OMIM:610003	mondo.json	NCL, Northern epilepsy variant|progressive epilepsy - intellectual disability, Finnish type|EPMR|progressive epilepsy with intellectual disability, northern epilepsy|ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant|CLN8 disease, late infantile (subtype)|epilepsy mental deterioration Finnish type|CLN8 disease, EPMR (subtype)|neuronal ceroid lipofuscinosis 8|CLN8 disease, Northern epilepsy variant|epilepsy, progressive, with mental retardation|progressive epilepsy with mental retardation, northern epilepsy|neuronal ceroid lipofuscinosis, Northern epilepsy variant|Northern epilepsy|CLN8|epilepsy, progressive, with intellectual disability|progressive epilepsy-intellectual disability syndrome, Finnish type|northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant|ceroid lipofuscinosis neuronal 8	http://purl.obolibrary.org/obo/MONDO_0012391	Orphanet:1947|DOID:0110724|https://omim.org/entry/610003	ordo_disease|gard_rare
MONDO:0012392	biolink:Disease	2-methylbutyryl-CoA dehydrogenase deficiency	A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.	GARD:0010322|Orphanet:79157|MESH:C566487|UMLS:C1864912|NCIT:C98863|OMIM:610006	mondo.json	developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency|2-methylbutyrylglycinuria|2-methylbutyric aciduria|short branched-chain acyl-CoA dehydrogenase deficiency|2-methylbutyryl Glycinuria|butyryl-CoA dehydrogenase deficiency|short/branched-chain acyl-Coa dehydrogenase deficiency|short/branched-chain acyl-coA dehydrogenase deficiency|SBCAD deficiency|2-methylbutyryl-CoA dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0012392	http://identifiers.org/mesh/C566487|Orphanet:79157|NCIT:C98863|UMLS:C1864912|https://omim.org/entry/610006	gard_rare|ordo_disease
MONDO:0012390	biolink:Disease	arthrogryposis multiplex with deafness, inguinal hernias, and early death		OMIM:610001|GARD:0009946|UMLS:C1864939|MESH:C535381	mondo.json	arthrogryposis multiplex with deafness, inguinal hernias, and early death	http://purl.obolibrary.org/obo/MONDO_0012390	http://identifiers.org/mesh/C535381|UMLS:C1864939|https://omim.org/entry/610001	gard_rare
MONDO:0012395	biolink:Disease	cataract 18	Any cataract in which the cause of the disease is a mutation in the FYCO1 gene.	MESH:C535337|DOID:0110238|OMIM:610019|GARD:0009892	mondo.json	cataract 18, autosomal recessive|CATC2|FYCO1 cataract (disease)|cataract type 18|cataract 18|cataract 18 autosomal recessive|cataract (disease) caused by mutation in FYCO1|autosomal recessive congenital cataract 2|cataract, autosomal recessive congenital 2|CTRCT18	http://purl.obolibrary.org/obo/MONDO_0012395	DOID:0110238|http://identifiers.org/mesh/C535337|https://omim.org/entry/610019	
MONDO:0012396	biolink:Disease	exercise-induced hyperinsulinism	Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells.	NCIT:C131839|UMLS:C1864902|DOID:0070214|SCTID:715830008|OMIM:610021|Orphanet:165991|GARD:0009932|UMLS:C1864904|MESH:C538376	mondo.json	hyperinsulinemic hypoglycemia familial 7|MCT1 hyperinsulinism|EIHI|exercise induced hyperinsulinemic hypoglycemia|monocarboxylate transporter 1 hyperinsulinism|hyperinsulinemic hypoglycemia, familial, type 7|hyperinsulinism due to monocarboxylate transporter 1 deficiency|hyperinsulinism due to SLC16A1 deficiency|hyperinsulinemic hypoglycemia, familial, 7|hyperinsulinemic hypoglycemia, exercise-induced|exercise-induced hyperinsulinemic hypoglycemia|hyperinsulinemic hypoglycemia exercise-induced|HHF7	http://purl.obolibrary.org/obo/MONDO_0012396	http://identifiers.org/mesh/C538376|Orphanet:165991|NCIT:C131839|http://identifiers.org/snomedct/715830008|DOID:0070214|UMLS:C1864904|UMLS:C1864902|https://omim.org/entry/610021	ordo_disease
MONDO:0012393	biolink:Disease	congenital brain dysgenesis due to glutamine synthetase deficiency		OMIM:610015|MESH:C536832|GARD:0009848|UMLS:C1864910|Orphanet:71278	mondo.json	congenital glutamine deficiency|congenital brain dysgenesis due to glutamine synthetase deficiency|glutamine synthetase deficiency, congenital systemic|glutamine deficiency, congenital|inherited glutamine synthetase deficiency|glutamine synthase deficiency, congenital systemic|inherited GS deficiency	http://purl.obolibrary.org/obo/MONDO_0012393	http://identifiers.org/mesh/C536832|Orphanet:71278|UMLS:C1864910|https://omim.org/entry/610015	ordo_disease
MONDO:0012394	biolink:Disease	multiple synostoses syndrome 2	Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene.	MESH:C537380|GARD:0009916|UMLS:C1832708|OMIM:610017	mondo.json	SYNS2|multiple synostoses syndrome type 2|multiple synostoses syndrome 2|multiple synostoses syndrome caused by mutation in GDF5|GDF5 multiple synostoses syndrome	http://purl.obolibrary.org/obo/MONDO_0012394	http://identifiers.org/mesh/C537380|UMLS:C1832708|https://omim.org/entry/610017	gard_rare
HP:0045014	biolink:PhenotypicFeature	Hypolipidemia		UMLS:C0342892|SNOMEDCT_US:238090007	mondo.json		http://purl.obolibrary.org/obo/HP_0045014		
MONDO:0002853	biolink:Disease	rectum rhabdomyosarcoma	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the rectum.	UMLS:C1335687|DOID:4053|NCIT:C5627	mondo.json	rectum rhabdomyosarcoma (disease)|rhabdomyosarcoma (disease) of rectum|rhabdomyosarcoma of the rectum|rectal rhabdomyosarcoma|rhabdomyosarcoma of rectum	http://purl.obolibrary.org/obo/MONDO_0002853	NCIT:C5627|UMLS:C1335687|DOID:4053	
MONDO:0002854	biolink:Disease	prostate sarcoma	A rare malignant soft tissue neoplasm that arises from the prostate gland. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and stromal sarcoma.	NCIT:C7731|DOID:4054|UMLS:C0238393	mondo.json	prostate gland sarcoma|sarcoma of prostate|sarcoma of prostate gland|prostate sarcoma|sarcoma of the prostate	http://purl.obolibrary.org/obo/MONDO_0002854	DOID:4054|NCIT:C7731|UMLS:C0238393	
MONDO:0002855	biolink:Disease	ectomesenchymoma	An aggressive malignant mesenchymal neoplasm of the nervous system or soft tissues. It is characterized by the presence of a sarcomatous component (most often rhabdomyosarcoma) and a ganglionic or a neuroectodermal component.	GARD:0012279|DOID:4055|ICDO:8921/3|NCIT:C4716|UMLS:C0431111	mondo.json	rhabdomyosarcoma with ganglionic differentiation (morphologic abnormality)|malignant ectomesenchymoma|ectomesenchymoma|sarcoma with ganglionic or neuroectodermal differentiation|rhabdomyosarcoma with ganglionic differentiation	http://purl.obolibrary.org/obo/MONDO_0002855	DOID:4055|UMLS:C0431111|NCIT:C4716	
MONDO:0002856	biolink:Disease	gallbladder rhabdomyosarcoma	A rhabdomyosarcoma that is located in the gallbladder.	DOID:4057|UMLS:C1333756|NCIT:C5839	mondo.json	rhabdomyosarcoma (disease) of gall bladder|gall bladder rhabdomyosarcoma (disease)|rhabdomyosarcoma of gallbladder|rhabdomyosarcoma of the gallbladder|gallbladder rhabdomyosarcoma|gall bladder rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0002856	UMLS:C1333756|DOID:4057|NCIT:C5839	
HP:0011893	biolink:PhenotypicFeature	Abnormal leukocyte count	Number of leukocytes per volume of blood beyond normal limits.	UMLS:C0580531|SNOMEDCT_US:165509000	mondo.json	Abnormal white blood cell count	http://purl.obolibrary.org/obo/HP_0011893		
HP:0011895	biolink:PhenotypicFeature	Anemia due to reduced life span of red cells	A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days.	UMLS:C4021112	mondo.json	Anaemia due to reduced life span of red cells	http://purl.obolibrary.org/obo/HP_0011895		
MONDO:0002850	biolink:Disease	central nervous system rhabdomyosarcoma	A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the central nervous system.	DOID:4048|UMLS:C1332891|NCIT:C5464	mondo.json	rhabdomyosarcoma of the central nervous system|rhabdomyosarcoma (disease) of central nervous system|rhabdomyosarcoma of CNS|central nervous system rhabdomyosarcoma|CNS rhabdomyosarcoma|rhabdomyosarcoma of the CNS|central nervous system rhabdomyosarcoma (disease)|rhabdomyosarcoma of central nervous system	http://purl.obolibrary.org/obo/MONDO_0002850	UMLS:C1332891|NCIT:C5464|DOID:4048	
NCBITaxon:2732408	biolink:OrganismalEntity	Pisuviricota		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732408		
NCBITaxon:2732405	biolink:OrganismalEntity	Duplornaviricota		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732405		
MONDO:0002851	biolink:Disease	mediastinum rhabdomyosarcoma	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the mediastinum.	DOID:4049|NCIT:C6617|UMLS:C1334677	mondo.json	mediastinum rhabdomyosarcoma (disease)|rhabdomyosarcoma of the mediastinum|rhabdomyosarcoma of mediastinum|rhabdomyosarcoma (disease) of mediastinum|mediastinal rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0002851	NCIT:C6617|UMLS:C1334677|DOID:4049	
NCBITaxon:2732406	biolink:OrganismalEntity	Kitrinoviricota		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732406		
MONDO:0002852	biolink:Disease	mediastinum sarcoma	A rare sarcoma that arises from the mediastinum. Examples include liposarcoma, leiomyosarcoma, and angiosarcoma.	DOID:4050|NCIT:C6606|UMLS:C1334678	mondo.json	sarcoma of mediastinum|mediastinal sarcoma|mediastinum sarcoma|sarcoma of the mediastinum	http://purl.obolibrary.org/obo/MONDO_0002852	NCIT:C6606|UMLS:C1334678|DOID:4050	
MONDO:0014839	biolink:Disease	chorea, childhood-onset, with psychomotor retardation		UMLS:C4310787|OMIM:616939	mondo.json	COCPMR|chorea, childhood-onset, with psychomotor retardation|chorea, childhood-onset, with psychomotor retardation; COCPMR	http://purl.obolibrary.org/obo/MONDO_0014839	UMLS:C4310787|https://omim.org/entry/616939	
MONDO:0014838	biolink:Disease	Coffin-Siris syndrome 5	Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene.	UMLS:C4310788|OMIM:616938	mondo.json	Coffin-Siris syndrome 5|Coffin-Siris syndrome type 5|Coffin-Siris syndrome caused by mutation in SMARCE1|CSS5|COFFIN-SIRIS syndrome 5|SMARCE1 Coffin-Siris syndrome	http://purl.obolibrary.org/obo/MONDO_0014838	UMLS:C4310788|https://omim.org/entry/616938	
MONDO:0014837	biolink:Disease	thrombocytopenia 6		OMIM:616937|UMLS:C4310789|Orphanet:480851	mondo.json	thrombocytopenia type 6|thrombocytopenia, autosomal dominant, 6|THC6|thrombocytopenia 6|hereditary thrombocytopenia with early-onset myelofibrosis	http://purl.obolibrary.org/obo/MONDO_0014837	UMLS:C4310789|https://omim.org/entry/616937|Orphanet:480851	ordo_disease
NCBITaxon:2732409	biolink:OrganismalEntity	Artverviricota		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732409		
MONDO:0014836	biolink:Disease	Charcot-Marie-Tooth disease axonal type 2CC	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene.	DOID:0110180|UMLS:C4310790|OMIM:616924	mondo.json	CMT2CC|Charcot-Marie-Tooth disease axonal type 2CC|Charcot-Marie-Tooth disease, axonal, type 2CC|NEFH Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease caused by mutation in NEFH|Charcot-Marie-Tooth neuropathy type 2CC|Charcot-Marie-Tooth neuropathy, type 2Cc|Charcot-Marie-Tooth disease, axonal, type 2cc	http://purl.obolibrary.org/obo/MONDO_0014836	UMLS:C4310790|DOID:0110180|https://omim.org/entry/616924	
CHEBI:26421	biolink:ChemicalSubstance	pyridines	Any organonitrogen heterocyclic compound based on a pyridine skeleton and its substituted derivatives.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_26421		
MONDO:0014842	biolink:Disease	intellectual disability, autosomal dominant 41	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene.	OMIM:616944|UMLS:C4310784|DOID:0070071|UMLS:C0795942	mondo.json	autosomal dominant non-syndromic intellectual disability 41|autosomal dominant mental retardation 41|MRD41|mental retardation, autosomal dominant 41|mental retardation, autosomal dominant type 41|autosomal dominant non-syndromic intellectual disability caused by mutation in TBL1XR1|intellectual disability, autosomal dominant 41|intellectual disability, autosomal dominant type 41|TBL1XR1 autosomal dominant non-syndromic intellectual disability|autosomal dominant intellectual disability 41	http://purl.obolibrary.org/obo/MONDO_0014842	https://omim.org/entry/616944|DOID:0070071|UMLS:C4310784	
MONDO:0014841	biolink:Disease	trichothiodystrophy 6, nonphotosensitive	Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene.	OMIM:616943|UMLS:C4310785	mondo.json	trichothiodystrophy 6, nonphotosensitive|trichothiodystrophy 6, nonphotosensitive; TTD6|nonphotosensitive trichothiodystrophy caused by mutation in GTF2E2|GTF2E2 nonphotosensitive trichothiodystrophy|TTD6	http://purl.obolibrary.org/obo/MONDO_0014841	https://omim.org/entry/616943|UMLS:C4310785	
HGNC:6357	biolink:NamedThing	KLK1			mondo.json		http://identifiers.org/hgnc/6357		
MONDO:0014840	biolink:Disease	agammaglobulinemia 8, autosomal dominant	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene.	OMIM:616941|UMLS:C4310786	mondo.json	agammaglobulinemia 8, autosomal dominant; AGM8|AGM8|TCF3 autosomal agammaglobulinemia|agammaglobulinemia, autosomal dominant, due to TCF3 defect|agammaglobulinemia 8, autosomal dominant|autosomal agammaglobulinemia caused by mutation in TCF3	http://purl.obolibrary.org/obo/MONDO_0014840	https://omim.org/entry/616941|UMLS:C4310786	
HGNC:15804	biolink:NamedThing	OVOL2			mondo.json		http://identifiers.org/hgnc/15804		
MONDO:0014846	biolink:Disease	autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency		DOID:0111613|UMLS:C4310780|OMIM:616949|Orphanet:404493	mondo.json	spinocerebellar ataxia, autosomal recessive type 23|spinocerebellar ataxia autosomal recessive type 23|SCAR23|spinocerebellar ataxia, autosomal recessive 23	http://purl.obolibrary.org/obo/MONDO_0014846	DOID:0111613|https://omim.org/entry/616949|Orphanet:404493|UMLS:C4310780	ordo_disease
MONDO:0014845	biolink:Disease	spinocerebellar ataxia, autosomal recessive 22	Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene.	DOID:0111614|UMLS:C4310781|OMIM:616948	mondo.json	autosomal recessive cerebellar ataxia caused by mutation in VWA3B|spinocerebellar ataxia, autosomal recessive 22|spinocerebellar ataxia, autosomal recessive 22; SCAR22|SCAR22|VWA3B autosomal recessive cerebellar ataxia|spinocerebellar ataxia, autosomal recessive type 22	http://purl.obolibrary.org/obo/MONDO_0014845	DOID:0111614|https://omim.org/entry/616948|UMLS:C4310781	
NCIT:C16203	biolink:NamedThing	Clinical or Research Activity			mondo.json		http://purl.obolibrary.org/obo/NCIT_C16203		
MONDO:0014844	biolink:Disease	premature ovarian failure 12	Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene.	UMLS:C4310782|OMIM:616947	mondo.json	SYCE1 primary ovarian failure|primary ovarian failure caused by mutation in SYCE1|POF12|premature ovarian failure 12|premature ovarian failure type 12|premature ovarian failure 12; POF12	http://purl.obolibrary.org/obo/MONDO_0014844	https://omim.org/entry/616947|UMLS:C4310782	
MONDO:0014843	biolink:Disease	premature ovarian failure 11	Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene.	UMLS:C4310783|OMIM:616946	mondo.json	ERCC6 primary ovarian failure|primary ovarian failure caused by mutation in ERCC6|POF11|premature ovarian failure 11|premature ovarian failure type 11|premature ovarian failure 11; POF11	http://purl.obolibrary.org/obo/MONDO_0014843	https://omim.org/entry/616946|UMLS:C4310783	
MONDO:0002846	biolink:Disease	granulomatous gastritis	Gastritis that is associated with the presence of granulomas.	DOID:4038|UMLS:C1112577|NCIT:C27348	mondo.json	granulomatous gastritis	http://purl.obolibrary.org/obo/MONDO_0002846	DOID:4038|NCIT:C27348|UMLS:C1112577	
MONDO:0002847	biolink:Disease	skeletal muscle cancer	A malignant neoplasm arising from skeletal muscle.	DOID:4043|UMLS:C1334619|NCIT:C6516	mondo.json	malignant skeletal muscle neoplasm|malignant skeletal muscle tissue neoplasm|malignant tumor of skeletal muscle|cancer of skeletal muscle tissue|malignant neoplasm of the skeletal muscle|malignant neoplasm of skeletal muscle|malignant skeletal muscle tumor|malignant neoplasm of skeletal muscle tissue|skeletal muscle tissue cancer|malignant tumor of the skeletal muscle	http://purl.obolibrary.org/obo/MONDO_0002847	UMLS:C1334619|DOID:4043|NCIT:C6516	
MONDO:0002848	biolink:Disease	skeletal muscle neoplasm	A benign or malignant mesenchymal neoplasm arising from skeletal muscle.	SCTID:699955004|NCIT:C6514|UMLS:C1335971|DOID:4044|ICD9:239.2	mondo.json	skeletal muscle tissue neoplasm (disease)|neoplasm of the skeletal muscle|tumor of skeletal muscle|neoplasm of skeletal muscle tissue|neoplasm of skeletal muscle|skeletal muscle tissue tumor|skeletal muscle tumor|skeletal muscle tissue neoplasm|tumor of the skeletal muscle|tumor of skeletal muscle tissue|skeletal muscle neoplasm	http://purl.obolibrary.org/obo/MONDO_0002848	UMLS:C1335971|DOID:4044|NCIT:C6514|http://identifiers.org/snomedct/699955004	
HGNC:6354	biolink:NamedThing	KLHL3			mondo.json		http://identifiers.org/hgnc/6354		
MONDO:0002849	biolink:Disease	liver rhabdomyosarcoma	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the liver.	NCIT:C5834|UMLS:C1333975|DOID:4047	mondo.json	rhabdomyosarcoma (disease) of liver|liver rhabdomyosarcoma|rhabdomyosarcoma of the liver|rhabdomyosarcoma of liver|hepatic rhabdomyosarcoma|liver rhabdomyosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0002849	UMLS:C1333975|DOID:4047|NCIT:C5834	
NCBITaxon:348386	biolink:OrganismalEntity	unclassified Lentivirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_348386		
MONDO:0002864	biolink:Disease	anus rhabdomyosarcoma	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the anus.	UMLS:C1332276|DOID:4066|NCIT:C5610	mondo.json	rhabdomyosarcoma of the anus|rhabdomyosarcoma (disease) of anus|rhabdomyosarcoma of anus|anal rhabdomyosarcoma|anus rhabdomyosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0002864	NCIT:C5610|UMLS:C1332276|DOID:4066	
MONDO:0000201	biolink:Disease	obsolete thyroid cancer, nonmedullary			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000201		
MONDO:0000200	biolink:Disease	Zimmermann-Laband syndrome	Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.	SCTID:699447001|Orphanet:3473|GARD:0000385|ICD9:759.89|MESH:C536725|OMIMPS:135500|UMLS:C0796013	mondo.json	Zimmermann-Laband syndrome type 1|ZLS1|Laband syndrome|Zimmermann-Laband syndrome 1|Laband-Zimmermann syndrome|ZLS|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|gingival fibromatosis, abnormal fingers, fingernails, nose and ears, and splenomegaly|fibromatosis gingival, hepatosplenomegaly other anomalies|Zimmerman Laband syndrome	http://purl.obolibrary.org/obo/MONDO_0000200	http://identifiers.org/mesh/C536725|http://identifiers.org/snomedct/699447001|UMLS:C0796013|Orphanet:3473|https://omim.org/phenotypicSeries/PS135500	prototype_pattern|ordo_malformation_syndrome
MONDO:0002865	biolink:Disease	anus sarcoma	A malignant soft tissue neoplasm arising from the anus. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and Kaposi sarcoma.	UMLS:C1332277|DOID:4067|NCIT:C5611	mondo.json	sarcoma of the anus|anal sarcoma|anus sarcoma|sarcoma of anus	http://purl.obolibrary.org/obo/MONDO_0002865	NCIT:C5611|UMLS:C1332277|DOID:4067	
NCBITaxon:2732415	biolink:OrganismalEntity	Cossaviricota		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732415		
MONDO:0002866	biolink:Disease	duodenal disorder	Pathological conditions in the duodenum region of the small intestine (intestine, small).	ICD9:537.9|UMLS:C0013289|MESH:D004378|SCTID:52182008|ICD9:537.89|DOID:4072	mondo.json	duodenum disorder|duodenum disease or disorder|disorder of duodenum|disease of duodenum|disease or disorder of duodenum|duodenum disease	http://purl.obolibrary.org/obo/MONDO_0002866	http://identifiers.org/snomedct/52182008|http://identifiers.org/mesh/D004378|UMLS:C0013289|DOID:4072	
MONDO:0002867	biolink:Disease	pancreatic cystadenocarcinoma	A cystic adenocarcinoma that arises from the pancreas. It includes the acinar cell and serous cystadenocarcinoma subtypes.	NCIT:C3874|SCTID:235966007|DOID:4073|UMLS:C0238337	mondo.json	cystadenocarcinoma of pancreas|cystadenocarcinoma of the pancreas|pancreas cystadenocarcinoma|pancreatic cystadenocarcinoma|cystadenocarcinoma - pancreas	http://purl.obolibrary.org/obo/MONDO_0002867	http://identifiers.org/snomedct/235966007|UMLS:C0238337|NCIT:C3874|DOID:4073	
MONDO:0002860	biolink:Disease	testis rhabdomyosarcoma	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the testis.	UMLS:C1336726|NCIT:C6378|DOID:4061	mondo.json	rhabdomyosarcoma (disease) of testis|testicular rhabdomyosarcoma|rhabdomyosarcoma of testis|rhabdomyosarcoma of the testis|testis rhabdomyosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0002860	NCIT:C6378|UMLS:C1336726|DOID:4061	
MONDO:0000205	biolink:Disease	obsolete radioulnar synostosis with amegakaryocytic thrombocytopenia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000205		
MONDO:0002861	biolink:Disease	testis sarcoma	A sarcoma that arises from the testis. The majority of cases arise from teratomas or spermatocytic seminomas.	UMLS:C1336727|DOID:4062|NCIT:C6359	mondo.json	sarcoma of testis|testis sarcoma|testicular sarcoma|sarcoma of the testis	http://purl.obolibrary.org/obo/MONDO_0002861	NCIT:C6359|UMLS:C1336727|DOID:4062	
MONDO:0000204	biolink:Disease	obsolete skin creases, congenital symmetric circumferential		OMIMPS:156610	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000204	https://omim.org/phenotypicSeries/PS156610	
NCBITaxon:2732416	biolink:OrganismalEntity	Cressdnaviricota		GC_ID:1	mondo.json	eukaryotic Rep-encoding ssDNA viruses	http://purl.obolibrary.org/obo/NCBITaxon_2732416		
MONDO:0002862	biolink:Disease	bile duct sarcoma	A sarcoma that involves the bile duct.	DOID:4064|NCIT:C5029|UMLS:C2205442	mondo.json	sarcoma of bile duct|bile duct sarcoma|sarcoma of the bile duct	http://purl.obolibrary.org/obo/MONDO_0002862	DOID:4064	
MONDO:0000203	biolink:Disease	obsolete Dehydrated hereditary stomatocytosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000203		
MONDO:0002863	biolink:Disease	rhabdomyosarcoma with mixed embryonal and alveolar features	A rhabdomyosarcoma composed of embryonic and alveolar components. It is characterized by the presence of spindle cells with myoblastic differentiation, a myxoid stroma, and fibrous septa. These tumors were previously considered variants of alveolar rhabdomyosarcoma. The lack of PAX3-FOXO1 fusions in most of these tumors suggests that are biologically and clinically related to embryonal rhabdomyosarcoma.	UMLS:C0334481|DOID:4065|UMLS:C1709053|NCIT:C4259|ICDO:8902/3	mondo.json	mixed alveolar rhabdomyosarcoma|rhabdomyosarcoma with mixed embryonal and alveolar features|mixed type rhabdomyosarcoma|mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma|mixed type alveolar rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0002863	NCIT:C4259|UMLS:C1709053|UMLS:C0334481|DOID:4065	
MONDO:0000202	biolink:Disease	obsolete Heimler syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000202		
MONDO:0014828	biolink:Disease	immunodeficiency-centromeric instability-facial anomalies syndrome 3	Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene.	UMLS:C4310799|OMIM:616910|DOID:0090010	mondo.json	ICF syndrome 3|immunodeficiency-centromeric instability-Facial anomalies syndrome 3|immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in CDCA7|ICF3|immunodeficiency-centromeric instability-facial anomalies syndrome type 3|immunodeficiency-centromeric instability-FACIAL anomalies syndrome 3|immunodeficiency-centromeric instability-Facial anomalies syndrome type 3|CDCA7 immunodeficiency-centromeric instability-facial anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0014828	UMLS:C4310799|DOID:0090010|https://omim.org/entry/616910	
MONDO:0014827	biolink:Disease	autosomal recessive spastic paraplegia type 76	Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.	UMLS:C4310800|DOID:0110821|EFO:0009019|OMIM:616907|Orphanet:488594	mondo.json	hereditary spastic paraplegia type 76|autosomal recessive complex spastic paraplegia caused by mutation in CAPN1|CAPN1 autosomal recessive complex spastic paraplegia|SPG76|hereditary spastic paraplegia 76|spastic paraplegia 76, autosomal recessive|autosomal recessive spastic paraplegia 76	http://purl.obolibrary.org/obo/MONDO_0014827	UMLS:C4310800|Orphanet:488594|https://omim.org/entry/616907|DOID:0110821	ordo_disease
MONDO:0014826	biolink:Disease	obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency		OMIM:616903|UMLS:C4225160	mondo.json	Nudt15 deficiency|nucleoside diphosphate-linked moiety X Motif 15 deficiency; NUDT15D|THPM2|NUDT15D|nucleoside diphosphate-linked moiety X Motif 15 deficiency|THIOPURINES, poor metabolism OF, 2|Thiopurines, poor metabolism Of, 2	http://purl.obolibrary.org/obo/MONDO_0014826	UMLS:C4225160|https://omim.org/entry/616903	
MONDO:0014825	biolink:Disease	chromosome 11p13 deletion syndrome, distal		OMIM:616902|UMLS:C4311047	mondo.json		http://purl.obolibrary.org/obo/MONDO_0014825	https://omim.org/entry/616902|UMLS:C4311047	
HGNC:15807	biolink:NamedThing	ZNF335			mondo.json		http://identifiers.org/hgnc/15807		
MONDO:0014829	biolink:Disease	immunodeficiency-centromeric instability-facial anomalies syndrome 4	Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene.	OMIM:616911|UMLS:C4310798|DOID:0090011	mondo.json	ICF syndrome 4|immunodeficiency-centromeric instability-Facial anomalies syndrome 4|ICF4|immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in HELLS|immunodeficiency-centromeric instability-facial anomalies syndrome type 4|immunodeficiency-centromeric instability-FACIAL anomalies syndrome 4|immunodeficiency-centromeric instability-Facial anomalies syndrome type 4|HELLS immunodeficiency-centromeric instability-facial anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0014829	UMLS:C4310798|DOID:0090011|https://omim.org/entry/616911	
HGNC:15808	biolink:NamedThing	GZF1			mondo.json		http://identifiers.org/hgnc/15808		
MONDO:0014831	biolink:Disease	progeroid and marfanoid aspect-lipodystrophy syndrome		UMLS:C4310796|Orphanet:300382|OMIM:616914	mondo.json	MFLS|Marfanoid-progeroid syndrome|Marfan-progeroid-lipodystrophy syndrome|Marfan lipodystrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0014831	https://omim.org/entry/616914|Orphanet:300382|UMLS:C4310796	ordo_disease
MONDO:0014830	biolink:Disease	platelet-type bleeding disorder 20	Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene.	OMIM:616913|DOID:0111055|Orphanet:466806|UMLS:C4310797	mondo.json	inherited bleeding disorder, platelet-type caused by mutation in SLFN14|autosomal dominant thrombocytopenia with platelet secretion defect|BDPLT20|SLFN14 inherited bleeding disorder, platelet-type|bleeding disorder, platelet-type, 20	http://purl.obolibrary.org/obo/MONDO_0014830	DOID:0111055|Orphanet:466806|https://omim.org/entry/616913|UMLS:C4310797	ordo_disease
MONDO:0014835	biolink:Disease	striatal degeneration, autosomal dominant 2	Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene.	OMIM:616922|UMLS:C4310791	mondo.json	striatal Degeneration, autosomal dominant type 2|striatal degeneration, autosomal dominant caused by mutation in PDE10A|ADSD2|striatal degeneration, autosomal dominant|striatal degeneration, autosomal dominant 2; ADSD2|striatal Degeneration, autosomal dominant 2|PDE10A striatal degeneration, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0014835	UMLS:C4310791|https://omim.org/entry/616922	
MONDO:0014834	biolink:Disease	dyskinesia, limb and orofacial, infantile-onset		OMIM:616921|UMLS:C4310792	mondo.json	dyskinesia, limb and orofacial, infantile-onset|IOLOD|dyskinesia, limb and orofacial, infantile-onset; IOLOD	http://purl.obolibrary.org/obo/MONDO_0014834	UMLS:C4310792|https://omim.org/entry/616921	
CHEBI:38418	biolink:ChemicalSubstance	1,3-thiazoles			mondo.json	1,3-thiazoles	http://purl.obolibrary.org/obo/CHEBI_38418		
MONDO:0014833	biolink:Disease	heart and brain malformation syndrome		OMIM:616920|UMLS:C4310793	mondo.json	heart and brain malformation syndrome; HBMS|HBMS|heart and brain malformation syndrome	http://purl.obolibrary.org/obo/MONDO_0014833	UMLS:C4310793|https://omim.org/entry/616920	
MONDO:0014832	biolink:Disease	intellectual disability, autosomal recessive 53		Orphanet:488635|OMIM:616917|UMLS:C4310794	mondo.json	early-onset epilepsy-intellectual disability-brain anomalies syndrome|intellectual developmental disorder, autosomal recessive 53|mental retardation, autosomal recessive type 53|intellectual disability, autosomal recessive type 53|PIGG-CDG|GPIBD13|congenital disorder of glycosylation due to PIGG deficiency|glycosylphosphatidylinositol biosynthesis defect 13|mental retardation, autosomal recessive 53|intellectual disability, autosomal recessive 53|MRT53	http://purl.obolibrary.org/obo/MONDO_0014832	https://omim.org/entry/616917|Orphanet:488635|UMLS:C4310794	ordo_disease
MONDO:0002857	biolink:Disease	gallbladder sarcoma	A malignant soft tissue neoplasm that arises from the gallbladder. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma.	NCIT:C5736|UMLS:C1333757|DOID:4058	mondo.json	sarcoma of gall bladder|sarcoma of the gallbladder|gallbladder sarcoma|sarcoma of gallbladder|malignant mesenchymal tumor of gallbladder|gall bladder sarcoma	http://purl.obolibrary.org/obo/MONDO_0002857	UMLS:C1333757|DOID:4058|NCIT:C5736	
MONDO:0002858	biolink:Disease	ovary rhabdomyosarcoma	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the ovaries.	DOID:4059|NCIT:C5236|UMLS:C1335176	mondo.json	rhabdomyosarcoma (disease) of ovary|rhabdomyosarcoma of the ovary|ovarian rhabdomyosarcoma|rhabdomyosarcoma of ovary|ovary rhabdomyosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0002858	DOID:4059|NCIT:C5236|UMLS:C1335176	
MONDO:0002859	biolink:Disease	breast rhabdomyosarcoma	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the breast.	UMLS:C1332637|NCIT:C5190|DOID:4060	mondo.json	rhabdomyosarcoma of the breast|rhabdomyosarcoma of breast|breast rhabdomyosarcoma (disease)|rhabdomyosarcoma (disease) of breast|breast rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0002859	DOID:4060|UMLS:C1332637|NCIT:C5190	
HGNC:6365	biolink:NamedThing	KLK4			mondo.json		http://identifiers.org/hgnc/6365		
MONDO:0002831	biolink:Disease	non-keratinizing sinonasal squamous cell carcinoma	A squamous cell carcinoma of the sinonasal tract characterized by a plexiform or ribbon-like growth pattern, cytological atypia, and lack of histological evidence of keratinization.	UMLS:C0334270|NCIT:C54287|DOID:4003|ICDO:8121/3|ONCOTREE:SNSC	mondo.json	Sinonasal cylindrical cell carcinoma|cylindrical cell carcinoma|Schneiderian carcinoma|Sinonasal Schneiderian carcinoma|sinonasal squamous cell carcinoma|Sinonasal transitional cell carcinoma|Ringertz carcinoma|non-keratinizing sinonasal squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002831	DOID:4003|UMLS:C0334270|NCIT:C54287	
MONDO:0002832	biolink:Disease	endometrial transitional cell carcinoma	A rare primary carcinoma of the endometrium characterized by the presence of malignant epithelial cells resembling urothelial transitional cells. The malignant transitional cells constitute at least 90% of the tumor cells.	DOID:4005|NCIT:C40154|UMLS:C1516864	mondo.json	endometrial transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002832	DOID:4005|UMLS:C1516864|NCIT:C40154	
MONDO:0002833	biolink:Disease	fallopian tube transitional cell carcinoma	A rare transitional cell carcinoma that arises from the fallopian tube.	DOID:4008|NCIT:C40104|UMLS:C1517128	mondo.json	fallopian tube transitional cell carcinoma|fallopian tube transitional cell cancer	http://purl.obolibrary.org/obo/MONDO_0002833	DOID:4008|UMLS:C1517128|NCIT:C40104	
NCBITaxon:2732423	biolink:OrganismalEntity	Arfiviricetes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732423		
MONDO:0002834	biolink:Disease	primary prostate urothelial carcinoma	An urothelial carcinoma that arises from the urothelial lining of the prostatic ducts or the prostatic urethra.	UMLS:C1514430|NCIT:C39898|DOID:4011	mondo.json	primary prostate urothelial cancer|prostate transitional cell carcinoma|primary prostate urothelial carcinoma|prostate urothelial carcinoma|prostate gland transitional cell carcinoma|transitional cell carcinoma of prostate|transitional cell carcinoma of the prostate	http://purl.obolibrary.org/obo/MONDO_0002834	UMLS:C1514430|DOID:4011|NCIT:C39898	
HP:0011873	biolink:PhenotypicFeature	Abnormal platelet count	Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.	UMLS:C0580317|SNOMEDCT_US:165558001	mondo.json		http://purl.obolibrary.org/obo/HP_0011873		
HP:0011875	biolink:PhenotypicFeature	Abnormal platelet morphology	An anomaly in platelet form, ultrastructure, or intracellular organelles.	UMLS:C0855742	mondo.json	Abnormal shape of platelets	http://purl.obolibrary.org/obo/HP_0011875		
MONDO:0002830	biolink:Disease	obsolete ovary transitional cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002830		
MONDO:0014817	biolink:Disease	nephrotic syndrome, type 12	Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene.	OMIM:616892|DOID:0080387|UMLS:C4225166	mondo.json	nephrotic syndrome, type 12|nephrotic syndrome, type 12; NPHS12|NPHS12|NUP93 familial nephrotic syndrome|familial nephrotic syndrome caused by mutation in NUP93	http://purl.obolibrary.org/obo/MONDO_0014817	DOID:0080387|UMLS:C4225166|https://omim.org/entry/616892	
MONDO:0014816	biolink:Disease	split-foot malformation-mesoaxial polydactyly syndrome		OMIM:616890|UMLS:C4225167|Orphanet:488232	mondo.json	split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome|split-foot malformation with mesoaxial polydactyly|SFMMP	http://purl.obolibrary.org/obo/MONDO_0014816	UMLS:C4225167|Orphanet:488232|https://omim.org/entry/616890	ordo_malformation_syndrome
MONDO:0014815	biolink:Disease	intellectual disability, autosomal recessive 52	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene.	OMIM:616887|UMLS:C4225168	mondo.json	mental retardation, autosomal recessive type 52|intellectual developmental disorder, autosomal recessive 52|autosomal recessive non-syndromic intellectual disability caused by mutation in LMAN2L|intellectual disability, autosomal recessive type 52|LMAN2L autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 52|intellectual disability, autosomal recessive 52|MRT52	http://purl.obolibrary.org/obo/MONDO_0014815	UMLS:C4225168|https://omim.org/entry/616887	
MONDO:0014814	biolink:Disease	advanced sleep phase syndrome 3	Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER3 gene.	OMIM:616882|UMLS:C4225169|DOID:0110013	mondo.json	familial advanced sleep phase syndrome 3|advanced sleep phase syndrome, familial, 3|FASPS3|advanced sleep phase syndrome caused by mutation in PER3|advanced sleep phase syndrome type 3|PER3 advanced sleep phase syndrome|advanced sleep phase syndrome, familial, type 3	http://purl.obolibrary.org/obo/MONDO_0014814	UMLS:C4225169|DOID:0110013|https://omim.org/entry/616882	
MONDO:0014819	biolink:Disease	autosomal dominant Robinow syndrome 3	Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene.	UMLS:C4225164|DOID:0060767|OMIM:616894	mondo.json	Robinow syndrome caused by mutation in DVL3|DVL3 Robinow syndrome|DRS3|Robinow syndrome, autosomal dominant type 3|autosomal dominant Robinow syndrome type 3|Robinow syndrome, autosomal dominant 3	http://purl.obolibrary.org/obo/MONDO_0014819	UMLS:C4225164|https://omim.org/entry/616894|DOID:0060767	
MONDO:0014818	biolink:Disease	nephrotic syndrome, type 13	Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene.	DOID:0080381|UMLS:C4225165|OMIM:616893	mondo.json	nephrotic syndrome, type 13|NPHS13|familial nephrotic syndrome caused by mutation in NUP205|NUP205 familial nephrotic syndrome|nephrotic syndrome, type 13; NPHS13	http://purl.obolibrary.org/obo/MONDO_0014818	DOID:0080381|UMLS:C4225165|https://omim.org/entry/616893	
UBERON:0011695	biolink:AnatomicalEntity	embryonic cardiovascular system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011695		
MONDO:0014820	biolink:Disease	mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)	Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene.	OMIM:616896|UMLS:C4225163|DOID:0080336	mondo.json	mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type); MTDPS14|MTDPS14|OPA1 mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)|mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)|mitochondrial DNA depletion syndrome caused by mutation in OPA1	http://purl.obolibrary.org/obo/MONDO_0014820	DOID:0080336|UMLS:C4225163|https://omim.org/entry/616896	
MONDO:0014824	biolink:Disease	craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		OMIM:616901|Orphanet:459061|UMLS:C4310801	mondo.json	Loucks-Innes syndrome|developmental delay-short stature-dysmorphic features-sparse hair syndrome|developmental delay with short stature, dysmorphic facial features, and sparse hair|developmental delay with short stature, dysmorphic features, and sparse hair|DEDSSH	http://purl.obolibrary.org/obo/MONDO_0014824	UMLS:C4310801|Orphanet:459061|https://omim.org/entry/616901	ordo_malformation_syndrome
CL:1001320	biolink:Cell	urethra cell		KUPO:0001123	mondo.json		http://purl.obolibrary.org/obo/CL_1001320		
MONDO:0014823	biolink:Disease	hypotonia, infantile, with psychomotor retardation and characteristic facies 3	A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.	Orphanet:488632|OMIM:616900|UMLS:C4225161	mondo.json	TBCK-related intellectual disability syndrome|IHPRF3|hypotonia, infantile, with psychomotor retardation and characteristic facies type 3|hypotonia, infantile, with psychomotor retardation and characteristic facies 3	http://purl.obolibrary.org/obo/MONDO_0014823	UMLS:C4225161|https://omim.org/entry/616900|Orphanet:488632	ordo_malformation_syndrome
MONDO:0014822	biolink:Disease	15q14 microdeletion syndrome	15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.	SCTID:719575008|UMLS:C4225666|OMIM:616898|UMLS:C4305230|Orphanet:261190	mondo.json	chromosome 15q14 deletion syndrome|monosomy 15q14|Del(15)(q14)	http://purl.obolibrary.org/obo/MONDO_0014822	UMLS:C4305230|http://identifiers.org/snomedct/719575008|UMLS:C4225666|https://omim.org/entry/616898|Orphanet:261190	ordo_malformation_syndrome
MONDO:0014821	biolink:Disease	complex lethal osteochondrodysplasia		OMIM:616897|Orphanet:457378|UMLS:C4225162	mondo.json	OCLSBG|Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type|osteochondrodysplasia, COMPLEX lethal, Symoens-Barnes-Gistelinck type|osteochondrodysplasia, Complex lethal, Symoens-Barnes-Gistelinck type	http://purl.obolibrary.org/obo/MONDO_0014821	UMLS:C4225162|https://omim.org/entry/616897|Orphanet:457378	ordo_malformation_syndrome
MONDO:0002828	biolink:Disease	Bartholin gland transitional cell carcinoma	A rare carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant urothelial-type epithelial cells.	DOID:3998|UMLS:C1511053|NCIT:C40297	mondo.json	Bartholin gland transitional cell carcinoma|major vestibular gland transitional cell carcinoma|Bartholin's gland transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002828	NCIT:C40297|UMLS:C1511053|DOID:3998	
MONDO:0002829	biolink:Disease	bartholin gland carcinoma	A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma.	HP:0030419|UMLS:C0349561|DOID:3999|EFO:1000103|DOID:60003|NCIT:C9055|SCTID:276876007	mondo.json	Bartholin gland carcinoma (disease)|Bartholin's gland carcinoma|Bartholin gland cancer|carcinoma of Bartholin's gland|bartholin gland carcinoma|carcinoma of the Bartholin's gland|Bartholin's gland cancer|carcinoma of major vestibular gland|major vestibular gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0002829	http://identifiers.org/snomedct/276876007|NCIT:C9055|DOID:60003|DOID:3999|UMLS:C0349561	
HGNC:6371	biolink:NamedThing	KLKB1			mondo.json		http://identifiers.org/hgnc/6371		
MONDO:0002824	biolink:Disease	extrinsic cardiomyopathy	A cardiomyopathy that is not due to abnormalities in heart muscle cells.	SCTID:195029002|DOID:3978|ICD9:425.8	mondo.json	secondary cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0002824	DOID:3978|http://identifiers.org/snomedct/195029002	
NCBITaxon:2732421	biolink:OrganismalEntity	Papovaviricetes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732421		
MONDO:0002825	biolink:Disease	obsolete Meige syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002825		
NCBITaxon:2732422	biolink:OrganismalEntity	Quintoviricetes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732422		
MONDO:0002826	biolink:Disease	obsolete tuberculosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002826		
MONDO:0002827	biolink:Disease	obsolete urinary system cancer			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002827		
MONDO:0002842	biolink:Disease	bacterial gastritis	Gastritis resulting from bacteria.	UMLS:C0948039|NCIT:C27340|SCTID:723096000|DOID:4033	mondo.json	Bacteria caused gastritis (disease)|Bacteria gastritis (disease)|bacterial gastritis	http://purl.obolibrary.org/obo/MONDO_0002842	DOID:4033|NCIT:C27340|http://identifiers.org/snomedct/723096000|UMLS:C0948039	
MONDO:0002843	biolink:Disease	fungal gastritis	Gastritis resulting from fungi.	UMLS:C0948638|SCTID:723097009|NCIT:C27342|DOID:4034	mondo.json	Fungi gastritis (disease)|fungal gastritis|Fungi caused gastritis (disease)	http://purl.obolibrary.org/obo/MONDO_0002843	DOID:4034|NCIT:C27342|http://identifiers.org/snomedct/723097009|UMLS:C0948638	
MONDO:0002844	biolink:Disease	lymphocytic gastritis		DOID:4035|NCIT:C27051|UMLS:C1283271|SCTID:360375007|ICD9:535.40	mondo.json	lymphocytic gastritis	http://purl.obolibrary.org/obo/MONDO_0002844	UMLS:C1283271|DOID:4035|NCIT:C27051|http://identifiers.org/snomedct/360375007	
MONDO:0002845	biolink:Disease	necrotizing gastritis	A variant of phlegmonous gastritis, typically progressing to gastric gangrene.	UMLS:C0877152|DOID:4037|NCIT:C27329	mondo.json	necrotizing gastritis	http://purl.obolibrary.org/obo/MONDO_0002845	DOID:4037|UMLS:C0877152|NCIT:C27329	
MONDO:0002840	biolink:Disease	eosinophilic gastritis	An eosinophilic gastroenteritis that is characterized by inflammation of the stomach.	SCTID:66329006|ICD9:535.70|ICD9:535.7|UMLS:C0267154|DOID:4030|NCIT:C27052|ICD9:535.40	mondo.json	eosinophilic gastritis	http://purl.obolibrary.org/obo/MONDO_0002840	DOID:4030|NCIT:C27052|UMLS:C0267154|http://identifiers.org/snomedct/66329006	
MONDO:0002841	biolink:Disease	obsolete eosinophilic gastroenteritis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002841		
MONDO:0014806	biolink:Disease	spinal muscular atrophy with congenital bone fractures 1	Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene.	GARD:0004947|UMLS:C1849101|OMIM:616866|OMIM:271225|MESH:C564805|UMLS:C4225177	mondo.json	spinal muscular atrophy with congenital bone fractures type 1|SMABF1|spinal muscular atrophy type 1 with congenital bone fractures|spinal muscular atrophy, type I, with congenital bone fractures|spinal muscular atrophy with congenital bone fractures 1|SMA1 with congenital bone fractures|TRIP4 prenatal-onset spinal muscular atrophy with congenital bone fractures|prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in TRIP4	http://purl.obolibrary.org/obo/MONDO_0014806	https://omim.org/entry/271225|UMLS:C4225177|https://omim.org/entry/616866|UMLS:C1849101|http://identifiers.org/mesh/C564805	
GO:0097060	biolink:NamedThing	synaptic membrane	A specialized area of membrane on either the presynaptic or the postsynaptic side of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0097060		
MONDO:0014805	biolink:Disease	Hao-Fountain syndrome	A neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging. The cause of the disease is a mutation in the USP7 gene.	Orphanet:500055|UMLS:C4225667|OMIM:616863	mondo.json	Del(16)(p13.2)|chromosome 16P13.2 deletion syndrome|chromosome 16p13.2 deletion syndrome|Hao-Fountain syndrome|16p13.2 microdeletion syndrome|USP7-related neurodevelopmental disorder|monosomy 16p13.2|HAFOUS	http://purl.obolibrary.org/obo/MONDO_0014805	Orphanet:500055|UMLS:C4225667|https://omim.org/entry/616863	ordo_malformation_syndrome
MONDO:0014804	biolink:Disease	sideroblastic anemia 3		SCTID:720465002|DOID:0080343|OMIM:616860|Orphanet:255132	mondo.json	GLRX5-related sideroblastic anemia|adult-onset autosomal recessive sideroblastic anemia|SIDBA3|anemia, sideroblastic, 3, pyridoxine-refractory	http://purl.obolibrary.org/obo/MONDO_0014804	Orphanet:255132|DOID:0080343|http://identifiers.org/snomedct/720465002|https://omim.org/entry/616860	ordo_disease
CL:1001319	biolink:Cell	bladder cell		KUPO:0001120	mondo.json		http://purl.obolibrary.org/obo/CL_1001319		
CL:1001318	biolink:Cell	renal interstitial pericyte		KUPO:0001104	mondo.json		http://purl.obolibrary.org/obo/CL_1001318		
MONDO:0014803	biolink:Disease	spasticity-ataxia-gait anomalies syndrome		OMIM:616859|Orphanet:401866|UMLS:C4225178	mondo.json	SPAHGC|childhood-onset spasticity with variant non-ketotic hyperglycinemia|spasticity, childhood-onset, with hyperglycinemia|childhood-onset spasticity with hyperglycinemia	http://purl.obolibrary.org/obo/MONDO_0014803	Orphanet:401866|UMLS:C4225178|https://omim.org/entry/616859	ordo_disease
MONDO:0014809	biolink:Disease	DDX41-related hematologic malignancy predisposition syndrome	Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene.	Orphanet:488647|OMIM:616871	mondo.json	DDX41 hereditary neoplastic syndrome|MPLPF|susceptibility to familial (multiple types) myeloproliferative/lymphoproliferative neoplasms|DDX41-related hematologic malignancy predisposition syndrome|hereditary neoplastic syndrome caused by mutation in DDX41|myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to	http://purl.obolibrary.org/obo/MONDO_0014809	https://omim.org/entry/616871|Orphanet:488647	ordo_disease
MONDO:0014808	biolink:Disease	congenital secretory sodium diarrhea 8	Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene.	OMIM:616868|DOID:0060777|UMLS:CN515063	mondo.json	diarrhea 8, secretory sodium, congenital|secretory diarrhea caused by mutation in SLC9A3|DIAR8|congenital secretory sodium diarrhea type 8|diarrhea, congenital sodium|SLC9A3 secretory diarrhea	http://purl.obolibrary.org/obo/MONDO_0014808	DOID:0060777|UMLS:CN515063|https://omim.org/entry/616868	
MONDO:0014807	biolink:Disease	spinal muscular atrophy with congenital bone fractures 2	Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene.	UMLS:C4225176|OMIM:616867	mondo.json	spinal muscular atrophy with congenital bone fractures type 2|SMABF2|spinal muscular atrophy with congenital bone fractures 2|ASCC1 prenatal-onset spinal muscular atrophy with congenital bone fractures|prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in ASCC1	http://purl.obolibrary.org/obo/MONDO_0014807	UMLS:C4225176|https://omim.org/entry/616867	
UBERON:0011679	biolink:AnatomicalEntity	proximal tarsal bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011679		
UBERON:0011677	biolink:AnatomicalEntity	trunk vertebra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011677		
MONDO:0014813	biolink:Disease	hypomyelinating leukodystrophy 13	Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene.	UMLS:C4225170|DOID:0060795|OMIM:616881	mondo.json	HIKESHI leukodystrophy|hikeshi leukodystrophy|hypomyelinating leukodystrophy type 13|HLD13|leukodystrophy caused by mutation in HIKESHI|leukodystrophy, hypomyelinating, 13|leukodystrophy caused by mutation in hikeshi|leukodystrophy, hypomyelinating, type 13	http://purl.obolibrary.org/obo/MONDO_0014813	UMLS:C4225170|https://omim.org/entry/616881|DOID:0060795	
MONDO:0014812	biolink:Disease	obsolete metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			mondo.json		http://purl.obolibrary.org/obo/MONDO_0014812		
MONDO:0014811	biolink:Disease	cerebellar atrophy, visual impairment, and psychomotor retardation;		OMIM:616875|UMLS:C4225172	mondo.json	cerebellar atrophy, visual impairment, and psychomotor retardation|CAVIPMR	http://purl.obolibrary.org/obo/MONDO_0014811	UMLS:C4225172|https://omim.org/entry/616875	
MONDO:0014810	biolink:Disease	pancytopenia due to IKZF1 mutations	Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene.	Orphanet:317473|OMIM:616873|UMLS:C4225173	mondo.json	IKZF1 syndrome with combined immunodeficiency|Cid due to IKAROS deficiency|immunodeficiency, common variable, type 13|syndrome with combined immunodeficiency caused by mutation in IKZF1|combined immunodeficiency due to IKAROS deficiency|immunodeficiency, common variable, 13|CVID13	http://purl.obolibrary.org/obo/MONDO_0014810	Orphanet:317473|UMLS:C4225173|https://omim.org/entry/616873	ordo_disease
MONDO:0002839	biolink:Disease	leather-bottle stomach	A cancer-related condition in which the gastric wall becomes thickened and rubbery (leather-bottle stomach). It is most often associated with diffuse gastric adenocarcinomas.	ICDO:8142/3|NCIT:C3190|MESH:D008039|UMLS:C0023743|DOID:4023	mondo.json	linitis plastica (morphologic abnormality)|linitis plastica	http://purl.obolibrary.org/obo/MONDO_0002839	NCIT:C3190|http://identifiers.org/mesh/D008039|DOID:4023|UMLS:C0023743	
HGNC:6383	biolink:NamedThing	KNG1			mondo.json		http://identifiers.org/hgnc/6383		
MONDO:0002835	biolink:Disease	obsolete papillary transitional carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002835		
OBI:0100026	biolink:NamedThing	organism	A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs.		mondo.json		http://purl.obolibrary.org/obo/OBI_0100026		
MONDO:0002836	biolink:Disease	urethra transitional cell carcinoma	A transitional cell carcinoma that arises from the male or female urethra.	UMLS:C0863015|NCIT:C6166|ONCOTREE:UCU|DOID:4013	mondo.json	urethral urothelial carcinoma|UCU|transitional cell carcinoma of the urethra|urethra transitional cell carcinoma|transitional cell carcinoma of urethra|urethral transitional cell carcinoma|urethral urothelial cancer	http://purl.obolibrary.org/obo/MONDO_0002836	DOID:4013|NCIT:C6166|UMLS:C0863015	
MONDO:0002837	biolink:Disease	sarcomatoid transitional cell carcinoma	A poorly differentiated transitional cell carcinoma characterized by the presence of malignant cells with spindle cell morphologic features.	NCIT:C4120|ICDO:8122/3|DOID:4014|UMLS:C0334271	mondo.json	transitional cell carcinoma, sarcomatoid|transitional cell spindle cell carcinoma|transitional spindle cell carcinoma|sarcomatoid transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002837	DOID:4014|NCIT:C4120|UMLS:C0334271	
MONDO:0002838	biolink:Disease	obsolete spindle cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002838		
HGNC:6388	biolink:NamedThing	KIF11			mondo.json		http://identifiers.org/hgnc/6388		
MONDO:0002897	biolink:Disease	secondary syphilis	The secondary stage of syphilis typically that is characterized by generalized rash (including palms and soles), mucocutaneous lesions, and lymphadenopathy. It usually begins one to two months after the primary stage.	ICD9:091.89|UMLS:C0343676|NCIT:C128413|ICD9:091.9|MESH:C536773|UMLS:C0149985|SCTID:240557004|DOID:4157	mondo.json	secondary syphilis of viscera or bone	http://purl.obolibrary.org/obo/MONDO_0002897	http://identifiers.org/snomedct/240557004|UMLS:C0149985|DOID:4157|NCIT:C128413|UMLS:C0343676|http://identifiers.org/mesh/C536773	
MONDO:0000234	biolink:Disease	Rickettsia parkeri spotted fever	A spotted fever that has material basis in Rickettsia parkeri, which is transmitted by Gulf Coast tick (Amblyomma maculatum). The infection has symptom fever, has symptom headache, has symptom eschar, and has symptom rash.	DOID:0050051	mondo.json	maculatum infection	http://purl.obolibrary.org/obo/MONDO_0000234	DOID:0050051	
MONDO:0002898	biolink:Disease	skin cancer	A malignant neoplasm involving the zone of skin	SCTID:372130007|ICD10CM:C43-C44|ICD9:173.9|UMLS:C0007114|ICD9:173.8|GARD:0010421|DOID:4159|NCIT:C2920	mondo.json	CA - skin cancer|malignant neoplasm of skin|malignant tumor of skin|skin cancer, Including melanoma|malignant tumor of the skin|skin cancer|skin neoplasm, malignant|cancer of zone of skin|zone of skin cancer|malignant neoplasm of the skin|malignant skin tumor|melanoma and non-melanoma skin cancer|cancer of skin|malignant skin neoplasm|malignant zone of skin neoplasm|malignant neoplasm of zone of skin	http://purl.obolibrary.org/obo/MONDO_0002898	http://purl.bioontology.org/ontology/ICD10CM/C43-C44|http://identifiers.org/snomedct/372130007|NCIT:C2920|DOID:4159|UMLS:C0007114	
MONDO:0000233	biolink:Disease	Japanese spotted fever	A spotted fever that has material basis in Rickettsia japonica, which is transmitted by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has symptom fever, has symptom eschars, has symptom regional adenopathy, and has symptom rash on extremities.	UMLS:C2108396|DOID:0050050	mondo.json	fevers, Japanese spotted|oriental spotted fever|Rickettsia japonica spotted fever|Japanese spotted fevers|Japanese spotted fever|spotted fever, Japanese|fever, Japanese spotted	http://purl.obolibrary.org/obo/MONDO_0000233	UMLS:C2108396|DOID:0050050	
MONDO:0000232	biolink:Disease	Flinders island spotted fever	A spotted fever that has material basis in Rickettsia honei, which is transmitted by cayenne ticks (Amblyomma cajennense). The infection has symptom mild spotted fever, has symptom eschar and has symptom adenopathy.	UMLS:C4505102|DOID:0050047	mondo.json	Thai tick typhus|FISF	http://purl.obolibrary.org/obo/MONDO_0000232	UMLS:C4505102|DOID:0050047	
MONDO:0002899	biolink:Disease	differentiating neuroblastoma	A neuroblastoma in which the differentiating neuroblasts constitute more than five-percent of the tumor cells.	NCIT:C42048|UMLS:C1511934|DOID:4160	mondo.json	differentiating neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0002899	UMLS:C1511934|NCIT:C42048|DOID:4160	
NCBITaxon:4734	biolink:OrganismalEntity	commelinids		PMID:26350789|GC_ID:1	mondo.json	Commeliniflorae|Commelinidae	http://purl.obolibrary.org/obo/NCBITaxon_4734		
MONDO:0000231	biolink:Disease	Far eastern spotted fever		UMLS:C3532354|SCTID:472822008|DOID:0050046	mondo.json	Rickettsia heilongjiangensis spotted fever	http://purl.obolibrary.org/obo/MONDO_0000231	http://identifiers.org/snomedct/472822008|UMLS:C3532354|DOID:0050046	
MONDO:0000238	biolink:Disease	obsolete pestis minor	OBSOLETE. A mild form of bubonic plague characterized by symptoms such as mild fever and lymphadenitis.	UMLS:C0275757|SCTID:186287003|MEDGEN:546803|DOID:0050068|ICD9:020.8	mondo.json	ambulatory plague|larval plague|pestis minor|abortive plague	http://purl.obolibrary.org/obo/MONDO_0000238	http://identifiers.org/snomedct/186287003|UMLS:C0275757|DOID:0050068	
MONDO:0002893	biolink:Disease	obsolete chondroid chordoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002893		
MONDO:0002894	biolink:Disease	spinal chordoma	A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.	DOID:4153|UMLS:C1859101|EFO:1000543|NCIT:C5156	mondo.json	spinal column chordoma|chordoma of spine|chordoma of the spinal column|spinal chordoma|chordoma of spinal column|spinal Chordomas	http://purl.obolibrary.org/obo/MONDO_0002894	UMLS:C1859101|DOID:4153|NCIT:C5156	
MONDO:0000237	biolink:Disease	obsolete erysipeloid			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000237		
MONDO:0002895	biolink:Disease	obsolete dentinogenesis imperfecta			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002895		
MONDO:0000236	biolink:Disease	oropharyngeal anthrax	A anthrax infection that involves the oropharynx.	DOID:0050059	mondo.json	oropharynx anthrax infection	http://purl.obolibrary.org/obo/MONDO_0000236	DOID:0050059	
MONDO:0002896	biolink:Disease	primary syphilis	The subclinical or symptomatic stage of syphilis, occurring at an average of three weeks after contact with an infected individual. It manifests with one or more painless, indurated ulcers (chancres) of the skin or mucous membranes at the site of inoculation. These lesions heal spontaneously within a few weeks.	SCTID:186846005|MESH:C536772|NCIT:C128412|UMLS:C2931317|ICD9:091|DOID:4156|UMLS:C0153139	mondo.json	early symptomatic syphilis|symptomatic early syphilis|early syphilis, symptomatic	http://purl.obolibrary.org/obo/MONDO_0002896	http://identifiers.org/snomedct/186846005|UMLS:C2931317|UMLS:C0153139|DOID:4156|NCIT:C128412|http://identifiers.org/mesh/C536772	
HGNC:6391	biolink:NamedThing	KIF22			mondo.json		http://identifiers.org/hgnc/6391		
MONDO:0000235	biolink:Disease	obsolete Rocky mountain spotted fever			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000235		
MONDO:0002890	biolink:Disease	obsolete gastrointestinal adenoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002890		
MONDO:0012218	biolink:Disease	dandy-walker malformation with occipital cephalocele, autosomal dominant		UMLS:C2674987|MESH:C567185|OMIM:609222	mondo.json	Dandy-Walker malformation with occipital cephalocele, autosomal dominant|ADDWOC	http://purl.obolibrary.org/obo/MONDO_0012218	UMLS:C2674987|https://omim.org/entry/609222|http://identifiers.org/mesh/C567185	
MONDO:0002891	biolink:Disease	obsolete gastrointestinal neuroendocrine benign tumor		DOID:4148	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002891	DOID:4148	
MONDO:0002892	biolink:Disease	skull base chordoma	A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells..	UMLS:C1335975|DOID:4151|NCIT:C5453	mondo.json	chordoma of the skull base|chordoma of skull base|skull base chordoma	http://purl.obolibrary.org/obo/MONDO_0002892	UMLS:C1335975|DOID:4151|NCIT:C5453	
MONDO:0012219	biolink:Disease	spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type		UMLS:C1836584|OMIM:609223|MESH:C563772	mondo.json	spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type	http://purl.obolibrary.org/obo/MONDO_0012219	https://omim.org/entry/609223|http://identifiers.org/mesh/C563772|UMLS:C1836584	
MONDO:0000230	biolink:Disease	Israeli tick typhus	An infectious disease caused by infection with rickettsia conorii subsp. israelensis.	DOID:0050043	mondo.json	Israeli spotted fever	http://purl.obolibrary.org/obo/MONDO_0000230	DOID:0050043	
UBERON:0035642	biolink:AnatomicalEntity	laryngeal nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035642		
MONDO:0014886	biolink:Disease	severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome		OMIM:617051|UMLS:C4310745|Orphanet:488627	mondo.json	neurodevelopmental disorder with microcephaly and gray sclerae|intellectual disability, autosomal recessive 55|mental retardation, autosomal recessive 55|intellectual disability, autosomal recessive type 55|MRT55|mental retardation, autosomal recessive type 55	http://purl.obolibrary.org/obo/MONDO_0014886	UMLS:C4310745|https://omim.org/entry/617051|Orphanet:488627	ordo_malformation_syndrome
MONDO:0012223	biolink:Disease	hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate		UMLS:C1836521|MESH:C563765|OMIM:609250	mondo.json	hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate|Marie Unna-like scalp hypotrichosis	http://purl.obolibrary.org/obo/MONDO_0012223	UMLS:C1836521|http://identifiers.org/mesh/C563765|https://omim.org/entry/609250	
MONDO:0012224	biolink:Disease	febrile seizures, familial, 6		UMLS:C1836518|OMIM:609253|MESH:C563764|DOID:0111309	mondo.json	febrile seizures, familial, 6|FEB6|convulsions, familial febrile, 6	http://purl.obolibrary.org/obo/MONDO_0012224	https://omim.org/entry/609253|http://identifiers.org/mesh/C563764|UMLS:C1836518|DOID:0111309	
MONDO:0014885	biolink:Disease	Hermansky-Pudlak syndrome 10	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene.	UMLS:C4310746|OMIM:617050	mondo.json	AP3D1 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome caused by mutation in AP3D1|Hermansky-Pudlak syndrome 10|Hermansky-Pudlak syndrome 10; HPS10|Hermansky-Pudlak syndrome type 10|HPS10	http://purl.obolibrary.org/obo/MONDO_0014885	UMLS:C4310746|https://omim.org/entry/617050	
MONDO:0014884	biolink:Disease	cholestasis, progressive familial intrahepatic, 5	Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene.	UMLS:CN776839|UMLS:C4310747|Orphanet:480476|DOID:0070225|OMIM:617049	mondo.json	cholestasis, progressive familial intrahepatic, 5; PFIC5|NR1H4 deficiency|cholestasis, progressive familial intrahepatic, 5|PFIC5|NR1H4 progressive familial intrahepatic cholestasis|cholestasis, progressive familial intrahepatic, type 5|progressive familial intrahepatic cholestasis caused by mutation in NR1H4	http://purl.obolibrary.org/obo/MONDO_0014884	UMLS:CN776839|DOID:0070225|UMLS:C4310747|https://omim.org/entry/617049|Orphanet:480476	ordo_clinical_subtype
MONDO:0012221	biolink:Disease	alpha-N-acetylgalactosaminidase deficiency type 1	Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.	OMIM:609241|GARD:0003903|GARD:0000116|Orphanet:79279|Orphanet:79281|UMLS:C1836545	mondo.json	Schindler disease type I|Schindler disease, type I|Schindler disease, type III|Schindler disease, type 3|NAGA deficiency type 1|NAGA deficiency, type 3|NAGA deficiency, type 1|Schindler disease, type 1|Schindler disease type 1|Alpha-N-acetylgalactosaminidase deficiency, type 3|neuroaxonal dystrophy, Schindler type|N-acetyl-alpha-D-galactosaminidase deficiency type III|Alpha-N-acetylgalactosaminidase deficiency, type 1|alpha-N-acetylgalactosaminidase deficiency, type 1	http://purl.obolibrary.org/obo/MONDO_0012221	https://omim.org/entry/609241|Orphanet:79279	gard_rare|ordo_clinical_subtype
MONDO:0012222	biolink:Disease	alpha-N-acetylgalactosaminidase deficiency type 2	Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.	Orphanet:79280|OMIM:609242|GARD:0009161|UMLS:C1836522	mondo.json	Alpha-N-acetylgalactosaminidase deficiency, adult-onset|Kanzaki disease|adult-onset Alpha-N-acetylgalactosaminidase deficiency|Schindler disease, type 2|Naga deficiency, type 2|NAGA deficiency type 2|Alpha-N-acetylgalactosaminidase deficiency adult onset|KANZAKI disease|Alpha-N-acetylgalactosaminidase deficiency, type 2|Schindler disease type 2	http://purl.obolibrary.org/obo/MONDO_0012222	https://omim.org/entry/609242|UMLS:C1836522|Orphanet:79280	ordo_clinical_subtype
MONDO:0014883	biolink:Disease	hypertrophic cardiomyopathy 26	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene.	UMLS:C4310749|DOID:0110327|OMIM:617047	mondo.json	cardiomyopathy, familial restrictive, 5|cardiomyopathy, familial hypertrophic, 26|FLNC hypertrophic cardiomyopathy|CMH26|cardiomyopathy familial hypertrophic 26|hypertrophic cardiomyopathy caused by mutation in FLNC|cardiomyopathy, familial restrictive 5|cardiomyopathy, familial hypertrophic, type 26|hypertrophic cardiomyopathy type 26	http://purl.obolibrary.org/obo/MONDO_0014883	UMLS:C4310749|https://omim.org/entry/617047|DOID:0110327	
MONDO:0012227	biolink:Disease	myopia 7		OMIM:609256|UMLS:C1836506|MESH:C563761	mondo.json	myopia 7|MYP7	http://purl.obolibrary.org/obo/MONDO_0012227	UMLS:C1836506|http://identifiers.org/mesh/C563761|https://omim.org/entry/609256	
MONDO:0014889	biolink:Disease	striatonigral degeneration, childhood-onset		Orphanet:497906|OMIM:617054|UMLS:C4310743	mondo.json	childhood-onset basal ganglia degeneration syndrome|striatonigral degeneration, childhood-onset; SNDC|Lenk-Ploski syndrome|SNDC|striatonigral Degeneration, childhood-onset	http://purl.obolibrary.org/obo/MONDO_0014889	Orphanet:497906|https://omim.org/entry/617054|UMLS:C4310743	ordo_disease
MONDO:0012228	biolink:Disease	myopia 8		OMIM:609257|UMLS:C1836505|MESH:C563760	mondo.json	myopia 8|MYP8	http://purl.obolibrary.org/obo/MONDO_0012228	UMLS:C1836505|http://identifiers.org/mesh/C563760|https://omim.org/entry/609257	
UBERON:0035639	biolink:AnatomicalEntity	ocular adnexa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035639		
MONDO:0012225	biolink:Disease	Senior-Loken syndrome 5	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene.	UMLS:C1836517|OMIM:609254|MESH:C563763	mondo.json	SENIOR-Loken syndrome 5|Senior-Loken syndrome 5|IQCB1 Senior-Loken syndrome|Senior-Loken syndrome caused by mutation in IQCB1|Senior-Loken syndrome type 5|SLSN5	http://purl.obolibrary.org/obo/MONDO_0012225	UMLS:C1836517|http://identifiers.org/mesh/C563763|https://omim.org/entry/609254	
MONDO:0014888	biolink:Disease	MIRAGE syndrome	An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy.	OMIM:617053|GARD:0013108|Orphanet:494433|NCIT:C147530|UMLS:C4284088	mondo.json	mirage|mirage syndrome|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome|myelodysplasia, infection, restriction of Growth, adrenal Hypoplasia, genital phenotypes, and enteropathy|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome	http://purl.obolibrary.org/obo/MONDO_0014888	NCIT:C147530|https://omim.org/entry/617053|UMLS:C4284088|Orphanet:494433	
MONDO:0014887	biolink:Disease	bone marrow failure syndrome 3	Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene.	OMIM:617052|UMLS:C4310744	mondo.json	bone marrow failure syndrome type 3|bone marrow failure syndrome 3|bone marrow failure syndrome caused by mutation in DNAJC21|BMFS3|DNAJC21 bone marrow failure syndrome	http://purl.obolibrary.org/obo/MONDO_0014887	UMLS:C4310744|https://omim.org/entry/617052	
MONDO:0012226	biolink:Disease	febrile seizures, familial, 5		UMLS:C1836507|OMIM:609255|MESH:C563762|DOID:0111306	mondo.json	convulsions, familial febrile, 5|febrile seizures, familial, 5|FEB5	http://purl.obolibrary.org/obo/MONDO_0012226	https://omim.org/entry/609255|http://identifiers.org/mesh/C563762|UMLS:C1836507|DOID:0111306	
MONDO:0000229	biolink:Disease	Indian tick typhus	An infectious disease caused by infection with rickettsia conorii subsp. coronorii.	Orphanet:101335|DOID:0050042	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000229	Orphanet:101335|DOID:0050042	
MONDO:0000228	biolink:Disease	obsolete Astrakhan spotted fever			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000228		
MONDO:0014882	biolink:Disease	hereditary spastic paraplegia 77	Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.	OMIM:617046|Orphanet:466722|UMLS:C4310750|DOID:0110822	mondo.json	hereditary spastic paraplegia type 77|autosomal recessive spastic paraplegia 77|spastic paraplegia 77, autosomal recessive|autosomal recessive spastic paraplegia type 77|SPG77|FARS2 hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in FARS2	http://purl.obolibrary.org/obo/MONDO_0014882	https://omim.org/entry/617046|UMLS:C4310750|Orphanet:466722|DOID:0110822	ordo_disease
MONDO:0012220	biolink:Disease	Griscelli syndrome type 3	A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes.	MESH:C537303|Orphanet:79478|DOID:0060834|OMIM:609227|UMLS:C1836573|GARD:0009715|ICD10CM:E70.3	mondo.json	Griscelli-PruniC)ras syndrome type 3|Griscelli syndrome, type 3|Griscelli-Pruni��ras syndrome type 3|Griscelli-Pruniéras syndrome type 3|GS3|Griscelli syndrome type 3|Griscelli disease type 3|hypomelanosis with no immunologic or neurologic manifestations	http://purl.obolibrary.org/obo/MONDO_0012220	UMLS:C1836573|DOID:0060834|http://identifiers.org/mesh/C537303|Orphanet:79478|https://omim.org/entry/609227	gard_rare|ordo_clinical_subtype
MONDO:0014881	biolink:Disease	transketolase deficiency		Orphanet:488618|UMLS:C4310751|OMIM:617044	mondo.json	TKT deficiency|short stature-developmental delay-congenital heart defect syndrome|SDDHD|short stature, developmental delay, and congenital heart defects	http://purl.obolibrary.org/obo/MONDO_0014881	https://omim.org/entry/617044|Orphanet:488618	ordo_malformation_syndrome
MONDO:0014880	biolink:Disease	Duane retraction syndrome 3 with or without deafness	Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion.	OMIM:617041|UMLS:C4310752|OMIM:126800|GARD:0010691	mondo.json	Duane retraction syndrome caused by mutation in MAFB|Duane retraction syndrome 3|Duane syndrome type 3|DURS3|MAFB Duane retraction syndrome|Duane retraction syndrome 3 with or without deafness	http://purl.obolibrary.org/obo/MONDO_0014880	https://omim.org/entry/617041|UMLS:C4310752	gard_rare
NCBITaxon:169418	biolink:OrganismalEntity	Mustelinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_169418		
MONDO:0000245	biolink:Disease	tinea imbricata	A tinea corporis that results in fungal infection located in skin, has material basis in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition.	UMLS:C0040255|DOID:0050116|ICD10CM:B35.5|SCTID:240699006	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000245	http://purl.bioontology.org/ontology/ICD10CM/B35.5|http://identifiers.org/snomedct/240699006|DOID:0050116|UMLS:C0040255	
MONDO:0000244	biolink:Disease	endothrix infectious disease	A dermatophyte infection of the hair that nvade the hair shaft and internalize into the hair cell.	DOID:0050105	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000244	DOID:0050105	
NCBITaxon:2732459	biolink:OrganismalEntity	Resentoviricetes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732459		
MONDO:0000243	biolink:Disease	ectothrix infectious disease	A dermatophyte infection of the hair that infects the hair surface.	DOID:0050097	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000243	DOID:0050097	
MONDO:0000242	biolink:Disease	tinea barbae	A dermatophytosis that involves the beard.	MESH:C000656825|DOID:0050096|UMLS:C2349994|SCTID:399329002	mondo.json	beard dermatophytosis|dermatophytosis of beard	http://purl.obolibrary.org/obo/MONDO_0000242	UMLS:C2349994|DOID:0050096|http://identifiers.org/mesh/C000656825|http://identifiers.org/snomedct/399329002	
MONDO:0000249	biolink:Disease	secretory diarrhea	Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.	SCTID:15699003|UMLS:C0267557|DOID:0050129|HP:0005208	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000249	http://identifiers.org/snomedct/15699003|UMLS:C0267557|DOID:0050129	
MONDO:0000248	biolink:Disease	dengue shock syndrome	A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth.	MESH:D019595|UMLS:C0376300|SCTID:409671005|DOID:0050125|OMIM:614371	mondo.json	DSS	http://purl.obolibrary.org/obo/MONDO_0000248	UMLS:C0376300|DOID:0050125|http://identifiers.org/snomedct/409671005|http://identifiers.org/mesh/D019595	
MONDO:0000247	biolink:Disease	obsolete hemophagocytic lymphohistiocytosis	OBSOLETE. A rare but potentially life-threatening disorder characterized by the proliferation of histiocytes and macrophages and phagocytosis of red blood cells, white blood cells, and platelets. It may be inherited or secondary, due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0000247		
MONDO:0026856	biolink:Disease	obsolete homosexuality 1		OMIM:306995	mondo.json	HMS1|homosexuality, male|HOMOSEXUALITY 1|Sexual Orientation, Male	http://purl.obolibrary.org/obo/MONDO_0026856	https://omim.org/entry/306995	
MONDO:0000246	biolink:Disease	obsolete la Crosse encephalitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000246		
UBERON:0035650	biolink:AnatomicalEntity	nerve of clitoris			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035650		
MONDO:0012209	biolink:Disease	branchiogenic deafness syndrome	Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.	Orphanet:50815|MESH:C563780|SCTID:717944002|OMIM:609166|UMLS:C1836673	mondo.json	BRANCHIOGENIC-deafness syndrome|Mégarbané-Loiselet syndrome|MC)garbanC)-Loiselet syndrome	http://purl.obolibrary.org/obo/MONDO_0012209	http://identifiers.org/mesh/C563780|https://omim.org/entry/609166|UMLS:C1836673|http://identifiers.org/snomedct/717944002|Orphanet:50815	ordo_malformation_syndrome
MONDO:0012207	biolink:Disease	umbilicus, familial flat		GARD:0009490|UMLS:C1836682|MESH:C537059|OMIM:609164	mondo.json	flat umbilicus autosomal dominant|umbilicus, familial flat|flat umbilicus familial|flat umbilicus, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012207	https://omim.org/entry/609164|UMLS:C1836682|http://identifiers.org/mesh/C537059	gard_rare
UBERON:0035652	biolink:AnatomicalEntity	fibular nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035652		
MONDO:0012208	biolink:Disease	congenital reticular ichthyosiform erythroderma		Orphanet:281190|MESH:C563781|SCTID:703504006|OMIM:609165|UMLS:C3665704	mondo.json	CRIE|erythroderma, ichthyosiform, congenital reticular|IWC|erythrokeratoderma, reticular|ichthyosis with confetti|Aarau disease|ichthyosis variegata	http://purl.obolibrary.org/obo/MONDO_0012208	Orphanet:281190|https://omim.org/entry/609165|http://identifiers.org/snomedct/703504006|http://identifiers.org/mesh/C563781|UMLS:C3665704	ordo_disease
MONDO:0014869	biolink:Disease	hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome		UMLS:C4310761|Orphanet:528091|OMIM:617021	mondo.json	hydrops, lactic acidosis, and sideroblastic anemia|HLASA	http://purl.obolibrary.org/obo/MONDO_0014869	Orphanet:528091|https://omim.org/entry/617021|UMLS:C4310761	ordo_disease
UBERON:0035651	biolink:AnatomicalEntity	glans			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035651		
MONDO:0000241	biolink:Disease	Keshan disease	A congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus.	SCTID:46939000|DOID:0050083|GARD:0008761|UMLS:C0268095|ICD9:269.3|MESH:C536166	mondo.json	enlarged heart and poor heart function|congestive cardiomyopathy due to selenium deficiency	http://purl.obolibrary.org/obo/MONDO_0000241	UMLS:C0268095|http://identifiers.org/snomedct/46939000|http://identifiers.org/mesh/C536166|DOID:0050083	gard_rare
MONDO:0000240	biolink:Disease	invasive aspergillosis	An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.	DOID:0050073|SCTID:721798004|UMLS:C0238013	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000240	UMLS:C0238013|http://identifiers.org/snomedct/721798004|DOID:0050073	
MONDO:0014875	biolink:Disease	hyperaldosteronism, familial, type IV		OMIM:617027|UMLS:C4310756	mondo.json	hyperaldosteronism, familial, type IV|hyperaldosteronism, familial, type IV; HALD4|hyperaldosteronism, familial, type 4|FH 4|HALD4|aldosteronism, primary, and hypertension	http://purl.obolibrary.org/obo/MONDO_0014875	UMLS:C4310756|https://omim.org/entry/617027	
MONDO:0012212	biolink:Disease	Loeys-Dietz syndrome 1	A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones.	NCIT:C75119|GARD:0009458|Orphanet:91387|Orphanet:97295|UMLS:C2697933|DOID:0070235|OMIM:609192	mondo.json	aortic aneurysm, familial thoracic 5|LDS1|Loeys-Dietz syndrome caused by mutation in TGFBR1|TGFBR1 Loeys-Dietz syndrome|Loeys-Dietz syndrome 1|Loeys-Dietz aortic aneurysm syndrome|Loeys-Dietz syndrome type 1|Furlong syndrome	http://purl.obolibrary.org/obo/MONDO_0012212	https://omim.org/entry/609192|UMLS:C2697933|DOID:0070235|Orphanet:97295|NCIT:C75119	
MONDO:0012213	biolink:Disease	hereditary spastic paraplegia 26	A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.	MESH:C536862|GARD:0009587|SCTID:726607007|UMLS:C1836632|OMIM:609195|UMLS:C4511959|Orphanet:101006|DOID:0110777	mondo.json	hereditary spastic paraplegia type 26|autosomal recessive spastic paraplegia 26|SPG26|GM2 synthase deficiency|spastic paraplegia 26, autosomal recessive|autosomal recessive spastic paraplegia type 26|spastic paraplegia 26	http://purl.obolibrary.org/obo/MONDO_0012213	DOID:0110777|Orphanet:101006|https://omim.org/entry/609195|UMLS:C1836632|UMLS:C4511959|http://identifiers.org/mesh/C536862|http://identifiers.org/snomedct/726607007	ordo_disease
MONDO:0014874	biolink:Disease	pontocerebellar hypoplasia, type 2F	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene.	OMIM:617026|UMLS:C4310757	mondo.json	pontocerebellar hypoplasia, type 2F|TSEN15 non-syndromic pontocerebellar hypoplasia|PCH2F|pontocerebellar hypoplasia, type 2F; PCH2F|non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN15	http://purl.obolibrary.org/obo/MONDO_0014874	UMLS:C4310757|https://omim.org/entry/617026	
MONDO:0014873	biolink:Disease	nevus comedonicus syndrome	A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood.	NCIT:C3946|OMIM:617025|SCTID:35962006|GARD:0013073|UMLS:C0265987|Orphanet:64754	mondo.json	NC|acne Nevus|Nevus comedonicus|pilosebaceous nevoid disorder|NEVUS comedonicus|acneiform Nevus|nevus comedonicus, somatic|comedo Nevus	http://purl.obolibrary.org/obo/MONDO_0014873	Orphanet:64754|NCIT:C3946|https://omim.org/entry/617025|UMLS:C0265987|http://identifiers.org/snomedct/35962006	ordo_disease
MONDO:0012210	biolink:Disease	migraine with aura, susceptibility to, 7		UMLS:C1836670|OMIM:609179	mondo.json	migraine with aura, susceptibility to, type 7|migraine with aura, susceptibility to, 7|Mgr7	http://purl.obolibrary.org/obo/MONDO_0012210	https://omim.org/entry/609179|UMLS:C1836670	predisposition
UBERON:0035649	biolink:AnatomicalEntity	nerve of penis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035649		
MONDO:0014872	biolink:Disease	congenital stationary night blindness 1H	Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene.	UMLS:C4310758|DOID:0110866|OMIM:617024	mondo.json	GNB3 congenital stationary night blindness|night blindness, congenital stationary, type 1H|congenital stationary night blindness type 1H|congenital stationary night blindness caused by mutation in GNB3|CSNB1H	http://purl.obolibrary.org/obo/MONDO_0014872	UMLS:C4310758|https://omim.org/entry/617024|DOID:0110866	
MONDO:0012211	biolink:Disease	MPDU1-congenital disorder of glycosylation	The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.	GARD:0009832|Orphanet:79323|DOID:0080558|SCTID:724096007|NCIT:C126872|MESH:C535744|OMIM:609180|UMLS:C1836669	mondo.json	congenital disorder of glycosylation, type If|congenital disorder of glycosylation type 1f|carbohydrate deficient glycoprotein syndrome type If|CDG1F|CDG-If|MPDU1-CDG (CDG-If)|CDG If|CDG syndrome type If|congenital disorder of glycosylation type If|MPDU1-CDG|CDGIf|carbohydrate-deficient glycoprotein syndrome type 1F|CDG 1F	http://purl.obolibrary.org/obo/MONDO_0012211	https://omim.org/entry/609180|UMLS:C1836669|NCIT:C126872|http://identifiers.org/snomedct/724096007|DOID:0080558|Orphanet:79323|http://identifiers.org/mesh/C535744	ordo_disease
UBERON:0035648	biolink:AnatomicalEntity	nerve innervating pinna			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035648		
MONDO:0014879	biolink:Disease	obsolete patent ductus arteriosus 3			mondo.json		http://purl.obolibrary.org/obo/MONDO_0014879		
MONDO:0012216	biolink:Disease	foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome		OMIM:609218|Orphanet:397618|MESH:C563774	mondo.json	FVH2|foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome|foveal hypoplasia type 2|foveal hypoplasia 2|foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis|foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism|foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis|FHONDA syndrome	http://purl.obolibrary.org/obo/MONDO_0012216	Orphanet:397618|http://identifiers.org/mesh/C563774|https://omim.org/entry/609218	ordo_disease
MONDO:0014878	biolink:Disease	patent ductus arteriosus 2		OMIM:617035|UMLS:C4284595	mondo.json	PDA2|patent ductus arteriosus 2|patent ductus arteriosus type 2|patent ductus arteriosus 2; PDA2	http://purl.obolibrary.org/obo/MONDO_0014878	https://omim.org/entry/617035|UMLS:C4284595	
MONDO:0012217	biolink:Disease	Bruck syndrome 2	Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene.	GARD:0010023|UMLS:C1836602|OMIM:609220|MESH:C537407	mondo.json	Bruck syndrome caused by mutation in PLOD2|Bruck syndrome 2|BRKS2|Bruck syndrome type 2|osteogenesis imperfecta with congenital Joint contractures|PLOD2 Bruck syndrome	http://purl.obolibrary.org/obo/MONDO_0012217	https://omim.org/entry/609220|UMLS:C1836602|http://identifiers.org/mesh/C537407	
MONDO:0012214	biolink:Disease	glucocorticoid deficiency 3		MESH:C563776|OMIM:609197|UMLS:C1836621	mondo.json	glucocorticoid deficiency 2, formerly|glucocorticoid deficiency 2|glucocorticoid deficiency 3|familial glucocorticoid deficiency 3|GCCD3	http://purl.obolibrary.org/obo/MONDO_0012214	https://omim.org/entry/609197|http://identifiers.org/mesh/C563776|UMLS:C1836621	
MONDO:0014877	biolink:Disease	myopathy, distal, 5	Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene.	OMIM:617030|UMLS:C4310754	mondo.json	MPD5|myopathy, distal, type 5|myopathy, distal, 5|ADSSL1 distal myopathy|myopathy, distal, 5; MPD5|distal myopathy caused by mutation in ADSSL1	http://purl.obolibrary.org/obo/MONDO_0014877	https://omim.org/entry/617030|UMLS:C4310754	
MONDO:0012215	biolink:Disease	myofibrillar myopathy 3	A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.	UMLS:C1834659|Orphanet:266|OMIM:159000|SCTID:765196004|SCTID:719985001|UMLS:C1836607|DOID:0110300|DOID:0080094|MESH:C535906|GARD:0010229|Orphanet:98911|MESH:C563775|OMIM:609200	mondo.json	myotilinopathy|proximal muscular dystrophy type 1A|limb-girdle muscular dystrophy type 1A|limb-girdle muscular dystrophy due to myotilin deficiency|MFM3|distal myotilinopathy|LGMD1|autosomal dominant limb-girdle muscular dystrophy type 1A|myopathy, myofibrillar, myotilin-related|autosomal dominant distal myopathy caused by mutation in MYOT|autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT|muscular dystrophy, proximal, type 1A|myopathy, myofibrillar, type 3|myopathy, myofibrillar, 3|muscular dystrophy, limb-girdle, type 1A|MYOT autosomal dominant limb-girdle muscular dystrophy|myofibrillar myopathy type 3|muscular dystrophy limb-girdle type 1A|MYOT autosomal dominant distal myopathy|LGMD1A	http://purl.obolibrary.org/obo/MONDO_0012215	DOID:0110300|http://identifiers.org/mesh/C535906|https://omim.org/entry/609200|http://identifiers.org/mesh/C563775|UMLS:C1834659|DOID:0080094|http://identifiers.org/snomedct/719985001|https://omim.org/entry/159000|Orphanet:266|http://identifiers.org/snomedct/765196004|Orphanet:98911	gard_rare|ordo_disease
NCBITaxon:12080	biolink:OrganismalEntity	Human poliovirus 1		GC_ID:1	mondo.json	Poliovirus 1|HPV-1|Polio virus 1|Poliovirus type 1|PV1|Human poliovirus type 1|poliovirus type 1 PV1	http://purl.obolibrary.org/obo/NCBITaxon_12080		
MONDO:0014876	biolink:Disease	intellectual disability, autosomal recessive 54	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TNIK gene.	OMIM:617028|UMLS:C4310755	mondo.json	autosomal recessive non-syndromic intellectual disability caused by mutation in TNIK|MRT54|intellectual disability, autosomal recessive type 54|mental retardation, autosomal recessive type 54|TNIK autosomal recessive non-syndromic intellectual disability|intellectual developmental disorder 54|intellectual disability, autosomal recessive 54|mental retardation, autosomal recessive 54	http://purl.obolibrary.org/obo/MONDO_0014876	UMLS:C4310755|https://omim.org/entry/617028	
NCBITaxon:12083	biolink:OrganismalEntity	Human poliovirus 2		GC_ID:1	mondo.json	Poliovirus 2|HPV-2|Poliovirus type 2|Human Poliovirus type 2	http://purl.obolibrary.org/obo/NCBITaxon_12083		
MONDO:0000239	biolink:Disease	adiaspiromycosis	Adiaspiromycosis is a rare fungal infection in the lung and is caused by inhalation of spores of the saprophytic soil fungus Chrysosporium parvum var crescens (previously known as Emmonsia crescens).	ICD9:117.9|MEDGEN:537148|UMLS:C0259737|DOID:0050072|SCTID:23892008|MESH:C000656784	mondo.json	adiaspirosis|adiaspiromycosis|haplosporangiosis|pulmonary adiaspiromycosis	http://purl.obolibrary.org/obo/MONDO_0000239	UMLS:C0259737|http://identifiers.org/snomedct/23892008|DOID:0050072|http://identifiers.org/mesh/C000656784	
MONDO:0014871	biolink:Disease	retinitis pigmentosa 75	Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene.	UMLS:C4310759|DOID:0110361|ICD10CM:H35.5|OMIM:617023	mondo.json	RP75|retinitis pigmentosa type 75|retinitis pigmentosa caused by mutation in AGBL5|retinitis pigmentosa 75|AGBL5 retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0014871	UMLS:C4310759|https://omim.org/entry/617023|DOID:0110361	
NCBITaxon:12086	biolink:OrganismalEntity	Human poliovirus 3		GC_ID:1	mondo.json	Poliovirus 3|Poliovirus type 3|HPV-3|Polio virus 3|Human poliovirus type 3	http://purl.obolibrary.org/obo/NCBITaxon_12086		
MONDO:0014870	biolink:Disease	NEK9-related lethal skeletal dysplasia	NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.	OMIM:617022|UMLS:C4310760|Orphanet:464366	mondo.json	lethal congenital contracture syndrome 10|lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome|lethal congenital contracture syndrome type 10|LCCS10	http://purl.obolibrary.org/obo/MONDO_0014870	https://omim.org/entry/617022|UMLS:C4310760|Orphanet:464366	ordo_malformation_syndrome
NCBITaxon:12089	biolink:OrganismalEntity	Coxsackievirus A24		GC_ID:1	mondo.json	Coxsackievirus A-24|CV-A24|Human coxsackievirus A24|Human enterovirus CVA24	http://purl.obolibrary.org/obo/NCBITaxon_12089		
MONDO:0000212	biolink:Disease	hypercalcemia, infantile	A hypercalcemia disease that occurs between 28 days to one year of life..	SCTID:276645004|UMLS:C4329374|Orphanet:300547|SCTID:34225008|MESH:C562999|NCIT:C129734|UMLS:CN203398|OMIMPS:143880	mondo.json	autosomal recessive infantile hypercalcemia|infantile hypercalcemia|hypercalcemia, infantile, autosomal recessive|hypercalcemia, idiopathic, of infancy|infantile hypercalcemia disease|hypercalcemia disease of infancy|autosomal recessive hypercalcemia, infantile|infantile onset hypercalcemia disease|familial infantile hypercalcemia with suppressed intact parathyroid hormone|idiopathic infantile hypercalcemia|hypercalcemia, infantile	http://purl.obolibrary.org/obo/MONDO_0000212	Orphanet:300547|https://omim.org/phenotypicSeries/PS143880|http://identifiers.org/mesh/C562999|http://identifiers.org/snomedct/34225008|NCIT:C129734|UMLS:C4329374|http://identifiers.org/snomedct/276645004	ordo_disease|prototype_pattern
MONDO:0002875	biolink:Disease	parasitic ectoparasitic infectious disease	Infestations by parasites which live on, or burrow into, the surface of their host's epidermis. Most ectoparasites are arthropods.	DOID:4110|ICD10CM:B85-B89|UMLS:C0013578|MESH:D004478	mondo.json	Infestations, ectoparasitic|ectoparasitic infestation|ectoparasitism|infestation, ectoparasitic	http://purl.obolibrary.org/obo/MONDO_0002875	http://purl.bioontology.org/ontology/ICD10CM/B85-B89|http://identifiers.org/mesh/D004478|UMLS:C0013578|DOID:4110	
NCBITaxon:12058	biolink:OrganismalEntity	Picornaviridae		GC_ID:1	mondo.json	Picornavirus	http://purl.obolibrary.org/obo/NCBITaxon_12058		
MONDO:0002876	biolink:Disease	cervical adenosarcoma	A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements.	NCIT:C40229|DOID:4111|Orphanet:213792|SCTID:764847000|ICD10CM:C53.0|UMLS:C1516426|UMLS:CN201069	mondo.json	cervical Mullerian adenosarcoma|adenosarcoma of uterine cervix|cervical Müllerian adenosarcoma|cervical adenosarcoma|uterine cervix adenosarcoma|cervical Muellerian adenosarcoma|adenosarcoma of the cervix uteri	http://purl.obolibrary.org/obo/MONDO_0002876	http://identifiers.org/snomedct/764847000|UMLS:C1516426|NCIT:C40229|UMLS:CN201069|DOID:4111|Orphanet:213792	ordo_disease
MONDO:0000211	biolink:Disease	striatal degeneration, autosomal dominant	An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.	UMLS:C1836694|Orphanet:228169|MESH:C563783|OMIMPS:609161	mondo.json	ADSD|autosomal dominant striatal neurodegeneration	http://purl.obolibrary.org/obo/MONDO_0000211	https://omim.org/phenotypicSeries/PS609161|http://identifiers.org/mesh/C563783|UMLS:C1836694|Orphanet:228169	
MONDO:0002877	biolink:Disease	cervical carcinosarcoma	A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma.	UMLS:CN201068|Orphanet:213787|NCIT:C36097|UMLS:C1516420|DOID:4112|UMLS:C1332917|SCTID:764951002	mondo.json	uterine cervix carcinosarcoma|cervical malignant mixed mesodermal (Müllerian) tumor|cervical malignant Müllerian mixed tumor|carcinosarcoma of the cervix uteri|malignant Müllerian mixed tumor of the cervix uteri|cervical carcinosarcoma|cervical malignant mixed mesodermal mullerian tumor|cervical malignant mixed Mullerian tumor|cervical malignant mixed mesodermal (Mullerian) tumor|cervical mixed epithelial and mesenchymal neoplasm|cervical malignant Mullerian mixed tumor|malignant Mullerian mixed tumor of the cervix uteri	http://purl.obolibrary.org/obo/MONDO_0002877	http://identifiers.org/snomedct/764951002|UMLS:C1516420|NCIT:C36097|UMLS:CN201068|DOID:4112|Orphanet:213787|UMLS:C1332917	ordo_disease
MONDO:0000210	biolink:Disease	thiopurine metabolic disease		OMIMPS:610460	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000210	https://omim.org/phenotypicSeries/PS610460	
NCBITaxon:12059	biolink:OrganismalEntity	Enterovirus		GC_ID:1	mondo.json	Enteroviruses	http://purl.obolibrary.org/obo/NCBITaxon_12059		
MONDO:0002878	biolink:Disease	uterine corpus adenosarcoma	A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection.	Orphanet:213600|DOID:4113|GARD:0009636|NCIT:C6336|MESH:C538232|UMLS:C1336917|UMLS:CN201046|ONCOTREE:UAS	mondo.json	adenosarcoma of the uterus|uterine adenosarcoma|uterine body adenosarcoma|body of uterus adenosarcoma|uterine corpus Müllerian adenosarcoma|adenosarcoma of body of uterus|adenosarcoma of the body of uterus|uterine corpus adenosarcoma|adenosarcoma of the uterine corpus|uterine corpus Mullerian adenosarcoma|adenosarcoma of the corpus uteri|adenosarcoma of uterine corpus|Mullerian adenosarcoma of the uterus|uterine corpus mullerian adenosarcoma|adenosarcoma of uterine body|adenosarcoma of the uterine body	http://purl.obolibrary.org/obo/MONDO_0002878	NCIT:C6336|UMLS:C1336917|http://identifiers.org/mesh/C538232|DOID:4113|Orphanet:213600	ordo_disease
MONDO:0002871	biolink:Disease	testicular trophoblastic tumor	A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas.	DOID:4084|NCIT:C39934|UMLS:C1515301	mondo.json	testicular trophoblastic tumor	http://purl.obolibrary.org/obo/MONDO_0002871	NCIT:C39934|UMLS:C1515301|DOID:4084	
MONDO:0000216	biolink:Disease	obsolete congenital bilateral aplasia of vas deferens			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000216		
MONDO:0002872	biolink:Disease	trophoblastic neoplasm	A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells. Representative examples include hydatidiform mole and choriocarcinoma.	DOID:4085|NCIT:C3422|MESH:D014328|UMLS:C0041182	mondo.json	tumor of trophoblast|trophoblastic tumor|trophoblastic neoplasm NOS (morphologic abnormality)|trophoblast neoplasm|trophoblastic tumor (qualifier value)|trophoblastic neoplasm (morphologic abnormality)|neoplasm of trophoblast|trophoblast tumor|trophoblastic neoplasm|trophoblastic neoplasms|trophoblast neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0002872	NCIT:C3422|http://identifiers.org/mesh/D014328|DOID:4085|UMLS:C0041182	
MONDO:0000215	biolink:Disease	obsolete epilepsy, familial focal, with variable foci			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000215		
MONDO:0000214	biolink:Disease	hypermanganesemia with dystonia		SCTID:768553002|DOID:0080535|OMIMPS:613280	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000214	http://identifiers.org/snomedct/768553002|https://omim.org/phenotypicSeries/PS613280|DOID:0080535	
MONDO:0002873	biolink:Disease	obsolete testicular germ cell tumor non-seminomatous			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002873		
MONDO:0000213	biolink:Disease	autoimmune disease, multisystem, infantile-onset		OMIMPS:615952|UMLS:CN238808	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000213	https://omim.org/phenotypicSeries/PS615952|UMLS:CN238808	
MONDO:0002874	biolink:Disease	testicular pure germ cell tumor	A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor.	DOID:4087|NCIT:C39915|UMLS:C1514608	mondo.json	testicular Pure germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0002874	NCIT:C39915|UMLS:C1514608|DOID:4087	
MONDO:0014859	biolink:Disease	developmental and epileptic encephalopathy, 37	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene.	UMLS:C4310770|OMIM:616981|DOID:0080435	mondo.json	DEE37|early infantile epileptic encephalopathy caused by mutation in FRRS1L|EIEE37|epileptic encephalopathy, early infantile, type 37|developmental and epileptic encephalopathy 37|epileptic encephalopathy, early infantile, 37|FRRS1L early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 37; EIEE37	http://purl.obolibrary.org/obo/MONDO_0014859	DOID:0080435|https://omim.org/entry/616981|UMLS:C4310770	
NCBITaxon:169440	biolink:OrganismalEntity	Coelopidae		GC_ID:1	mondo.json	kelp flies|seaweed flies	http://purl.obolibrary.org/obo/NCBITaxon_169440		
MONDO:0002870	biolink:Disease	tricuspid valve insufficiency	The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve.	UMLS:C0040961|NCIT:C50842|MESH:D014262|DOID:4080|SCTID:111287006	mondo.json	tricuspid insufficiency|insufficiency, tricuspid|tricuspid valve regurgitation|tricuspid regurgitation|tricuspid incompetence	http://purl.obolibrary.org/obo/MONDO_0002870	UMLS:C0040961|http://identifiers.org/mesh/D014262|http://identifiers.org/snomedct/111287006|DOID:4080|NCIT:C50842	
MONDO:0014858	biolink:Disease	intellectual disability, autosomal dominant 43	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene.	OMIM:616977|UMLS:C4310771|GARD:0013179|DOID:0070073|SCTID:765434008	mondo.json	mental retardation, autosomal dominant 43|autosomal dominant non-syndromic intellectual disability 43|mental retardation, autosomal dominant type 43|autosomal dominant non-syndromic intellectual disability caused by mutation in HIVEP2|MRD43|intellectual disability, autosomal dominant type 43|intellectual disability, autosomal dominant 43|autosomal dominant intellectual disability-43|HIVEP2 autosomal dominant non-syndromic intellectual disability|HIVEP2-related intellectual disability|autosomal dominant intellectual disability 43|autosomal dominant mental retardation 43	http://purl.obolibrary.org/obo/MONDO_0014858	https://omim.org/entry/616977|DOID:0070073|http://identifiers.org/snomedct/765434008|UMLS:C4310771	
UBERON:0035662	biolink:AnatomicalEntity	parotid vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035662		
MONDO:0014864	biolink:Disease	hypermanganesemia with dystonia 2	Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene.	SCTID:768554008|DOID:0080537|Orphanet:521406|UMLS:C4310765|OMIM:617013	mondo.json	SLC39A14 hypermanganesemia with dystonia|hypermanganesemia with dystonia 2; HMNDYT2|hypermanganesemia with dystonia type 2|HMNDYT2|hypermanganesemia with dystonia caused by mutation in SLC39A14|hypermanganesemia with dystonia 2	http://purl.obolibrary.org/obo/MONDO_0014864	Orphanet:521406|UMLS:C4310765|https://omim.org/entry/617013|http://identifiers.org/snomedct/768554008|DOID:0080537	ordo_disease
MONDO:0012201	biolink:Disease	obsolete tibia, bowing of, with pseudarthrosis and pectus excavatum			mondo.json		http://purl.obolibrary.org/obo/MONDO_0012201		
CHEBI:63436	biolink:ChemicalSubstance	carbohydrate acid derivative	A carbohydrate derivative that is formally obtained from a carbohydrate acid.		mondo.json	carbohydrate acid derivatives	http://purl.obolibrary.org/obo/CHEBI_63436		
MONDO:0014863	biolink:Disease	macrocephaly, dysmorphic facies, and psychomotor retardation		OMIM:617011|UMLS:C4310766	mondo.json	MDFPMR|macrocephaly, dysmorphic facies, and psychomotor retardation; MDFPMR|macrocephaly, dysmorphic facies, and psychomotor retardation	http://purl.obolibrary.org/obo/MONDO_0014863	UMLS:C4310766|https://omim.org/entry/617011	
MONDO:0012202	biolink:Disease	malaria, mild, susceptibility to		OMIM:609148	mondo.json	Mals|malaria, mild, susceptibility to|susceptibility to mild malaria	http://purl.obolibrary.org/obo/MONDO_0012202	https://omim.org/entry/609148	predisposition
MONDO:0014862	biolink:Disease	cerebral palsy, spastic quadriplegic, 3	Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene.	UMLS:C4310767|OMIM:617008	mondo.json	CPSQ3|spastic quadriplegia caused by mutation in ADD3|cerebral palsy, spastic quadriplegic, 3|cerebral palsy, spastic quadriplegic, 3; CPSQ3|ADD3 spastic quadriplegia|cerebral palsy, spastic quadriplegic, type 3	http://purl.obolibrary.org/obo/MONDO_0014862	UMLS:C4310767|https://omim.org/entry/617008	
MONDO:0014861	biolink:Disease	autoimmune disease, multisystem, infantile-onset, 2	Any autoimmune disease, multisystem, infantile-onset in which the cause of the disease is a mutation in the ZAP70 gene.	OMIM:617006|UMLS:C4310768	mondo.json	autoimmune disease, multisystem, infantile-onset, type 2|autoimmune disease, multisystem, infantile-onset, 2|ZAP70 autoimmune disease, multisystem, infantile-onset|autoimmune disease, multisystem, infantile-onset caused by mutation in ZAP70|autoimmune disease, multisystem, infantile-onset, 2; ADMIO2|ADMIO2	http://purl.obolibrary.org/obo/MONDO_0014861	UMLS:C4310768|https://omim.org/entry/617006	
MONDO:0012200	biolink:Disease	posterior polymorphous corneal dystrophy 3	Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.	UMLS:C1836724|OMIM:609141|MESH:C563788|DOID:0110857	mondo.json	posterior polymorphous corneal dystrophy type 3|corneal dystrophy, posterior polymorphous, type 3|ZEB1 posterior polymorphous corneal dystrophy|posterior polymorphous corneal dystrophy caused by mutation in ZEB1|PPCD3|corneal dystrophy, POSTERIOR polymorphous, 3|Ppcd3	http://purl.obolibrary.org/obo/MONDO_0012200	DOID:0110857|http://identifiers.org/mesh/C563788|https://omim.org/entry/609141|UMLS:C1836724	
MONDO:0012205	biolink:Disease	autosomal dominant striatal neurodegeneration type 1	Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia.	OMIM:609161|SCTID:725392005	mondo.json	striatal degeneration, autosomal dominant caused by mutation in PDE8B|striatal degeneration, autosomal dominant|ADSD1|striatal Degeneration, autosomal dominant 1|striatal degeneration, autosomal dominant 1|ADSD|autosomal dominant striatal neurodegeneration|PDE8B striatal degeneration, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012205	http://identifiers.org/snomedct/725392005|https://omim.org/entry/609161	ordo_disease
MONDO:0014868	biolink:Disease	developmental and epileptic encephalopathy, 38	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene.	DOID:0080417|OMIM:617020|UMLS:C4310762	mondo.json	ARV1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 38|DEE38|EIEE38|developmental and epileptic encephalopathy 38|epileptic encephalopathy, early infantile, type 38|early infantile epileptic encephalopathy caused by mutation in ARV1|epileptic encephalopathy, early infantile, 38; EIEE38	http://purl.obolibrary.org/obo/MONDO_0014868	UMLS:C4310762|https://omim.org/entry/617020|DOID:0080417	
OBI:0100051	biolink:NamedThing	specimen	A material entity that has the specimen role.		mondo.json		http://purl.obolibrary.org/obo/OBI_0100051		
MONDO:0014867	biolink:Disease	spinocerebellar ataxia 43	Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.	OMIM:617018|DOID:0111745|Orphanet:497764|UMLS:C4310763|EFO:0009060	mondo.json	SCA43|autosomal dominant cerebellar ataxia caused by mutation in MME|spinocerebellar ataxia 43; SCA43|spinocerebellar ataxia type 43|MME autosomal dominant cerebellar ataxia|spinocerebellar ataxia 43	http://purl.obolibrary.org/obo/MONDO_0014867	DOID:0111745|Orphanet:497764|https://omim.org/entry/617018|UMLS:C4310763	
MONDO:0012206	biolink:Disease	Czech dysplasia, metatarsal type	Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes.	SCTID:720826006|GARD:0010220|Orphanet:137678|MESH:C535766|OMIM:609162	mondo.json	Czech dysplasia|Czech dysplasia, metatarsal type|Czech dysplasia metatarsal type|pseudorheumatoid dysplasia progressive, with hypoplastic toes|spondyloepiphyseal dysplasia with precocious osteoarthritis|pseudorheumatoid dysplasia, progressive, with hypoplastic toes	http://purl.obolibrary.org/obo/MONDO_0012206	http://identifiers.org/snomedct/720826006|http://identifiers.org/mesh/C535766|https://omim.org/entry/609162|Orphanet:137678	ordo_disease|gard_rare
MONDO:0014866	biolink:Disease	Charcot-Marie-Tooth disease axonal type 2T	A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.	OMIM:617017|Orphanet:443950|OMIM:616233|UMLS:C4015635|DOID:0110160	mondo.json	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2T|DNAJB2-related Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease, axonal, type 2T|AR-CMT2T|DNAJB2-related CMT2|autosomal recessive axonal Charcot-Marie-Tooth disease type 2T|CMT2T|Charcot-Marie-Tooth neuropathy type 2T|Charcot-Marie-Tooth neuropathy, type 2T	http://purl.obolibrary.org/obo/MONDO_0014866	DOID:0110160|Orphanet:443950|https://omim.org/entry/617017|UMLS:C4015635	ordo_disease
MONDO:0012203	biolink:Disease	familial hyperthyroidism due to mutations in TSH receptor	Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.	UMLS:C1836706|Orphanet:424|GARD:0002858|MESH:C563786|OMIM:609152	mondo.json	hyperthyroidism, Nonautoimmune, autosomal dominant|resistance to thyroid stimulating hormone|familial non-immune hyperthyroidism|toxic thyroid hyperplasia, autosomal dominant|Nonautoimmune hyperthyroidism|hyperthyroidism, congenital Nonautoimmune|hyperthyroidism, NONAUTOIMMUNE	http://purl.obolibrary.org/obo/MONDO_0012203	https://omim.org/entry/609152|http://identifiers.org/mesh/C563786|UMLS:C1836706|Orphanet:424	ordo_disease
MONDO:0012204	biolink:Disease	familial pseudohyperkalemia	An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.	UMLS:C4273970|Orphanet:90044|UMLS:C1836705|SCTID:717254007|MESH:C563785|OMIM:609153	mondo.json	cryohydrocytosis, mild|PSHK2|pseudohyperkalemia, familial, 2, due to red cell leak|pseudohyperkalemia East London|pseudohyperkalemia Chiswick|pseudohyperkalemia Falkirk|pseudohyperkalemia Lille	http://purl.obolibrary.org/obo/MONDO_0012204	http://identifiers.org/snomedct/717254007|https://omim.org/entry/609153|http://identifiers.org/mesh/C563785|UMLS:C1836705|Orphanet:90044|UMLS:C4273970	ordo_disease
MONDO:0014865	biolink:Disease	autosomal recessive severe congenital neutropenia due to CSF3R deficiency		OMIM:617014|Orphanet:420702|UMLS:C4310764	mondo.json	SCN7|neutropenia, Severe congenital, 7, autosomal recessive|neutropenia, severe congenital, 7, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0014865	Orphanet:420702|https://omim.org/entry/617014|UMLS:C4310764	ordo_disease
MONDO:0000209	biolink:Disease	prenatal-onset spinal muscular atrophy with congenital bone fractures		Orphanet:486811|OMIMPS:616866|UMLS:CN238807	mondo.json	spinal muscular atrophy with congenital bone fractures|SMABF	http://purl.obolibrary.org/obo/MONDO_0000209	UMLS:CN238807|https://omim.org/phenotypicSeries/PS616866|Orphanet:486811	ordo_disease
NCBITaxon:2732461	biolink:OrganismalEntity	Alsuviricetes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732461		
NCBITaxon:2732462	biolink:OrganismalEntity	Flasuviricetes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732462		
MONDO:0000208	biolink:Disease	microcephaly, short stature, and impaired glucose metabolism 1		UMLS:C4014997|OMIM:616033	mondo.json	MSSGM|microcephaly, short stature, and impaired glucose metabolism|microcephaly, short stature, and impaired glucose metabolism 1|MSSGM1	http://purl.obolibrary.org/obo/MONDO_0000208	https://omim.org/entry/616033|UMLS:C4014997	
GO:0036094	biolink:NamedThing	small molecule binding	Binding to a small molecule, any low molecular weight, monomeric, non-encoded molecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0036094		
MONDO:0000207	biolink:Disease	obsolete hypotonia, infantile, with psychomotor retardation and characteristic facies			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000207		
MONDO:0000206	biolink:Disease	obsolete cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy			mondo.json	obsolete cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy; CADASIL	http://purl.obolibrary.org/obo/MONDO_0000206		
MONDO:0002868	biolink:Disease	bile duct mucinous cystic neoplasm with an associated invasive carcinoma	A mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component.	ICDO:8161/3|NCIT:C4130|DOID:4075|UMLS:C0334286	mondo.json	biliary cystadenocarcinoma|bile duct cystadenocarcinoma (morphologic abnormality)|bile duct cystadenocarcinoma|cystadenocarcinoma of the bile duct|cystadenocarcinoma of bile duct|bile duct mucinous cystic neoplasm with an associated invasive carcinoma	http://purl.obolibrary.org/obo/MONDO_0002868	DOID:4075|NCIT:C4130|UMLS:C0334286	
MONDO:0014860	biolink:Disease	polycystic liver disease 2	Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene.	OMIM:617004|UMLS:C4310769	mondo.json	polycystic liver disease 2|polycystic liver disease type 2|polycystic liver disease 2; PCLD2|PCLD2|polycystic liver disease 2 with or without kidney cysts	http://purl.obolibrary.org/obo/MONDO_0014860	UMLS:C4310769|https://omim.org/entry/617004	
MONDO:0002869	biolink:Disease	heart valve disorder	A disease involving the cardial valve.	DOID:4079|UMLS:C0018824|SCTID:368009|NCIT:C45525|ICD9:424.99|MESH:D006349	mondo.json	disorder of heart valve|valvular heart disorder|valvular heart disease|heart valve disorder|disease of cardial valve|cardial valve disease or disorder|disorder of cardial valve|cardial valve disease|disease or disorder of cardial valve	http://purl.obolibrary.org/obo/MONDO_0002869	DOID:4079|NCIT:C45525|http://identifiers.org/mesh/D006349|UMLS:C0018824|http://identifiers.org/snomedct/368009	
MONDO:0002886	biolink:Disease	common bile duct disorder	A disease involving the common bile duct.	MESH:D003137|DOID:4137|UMLS:C0009440	mondo.json	common bile duct disease or disorder|disorder of common bile duct|disease of common bile duct|disease or disorder of common bile duct|common bile duct disease	http://purl.obolibrary.org/obo/MONDO_0002886	http://identifiers.org/mesh/D003137|UMLS:C0009440|DOID:4137	
MONDO:0000223	biolink:Disease	obsolete chikungunya			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000223		
MONDO:0002887	biolink:Disease	bile duct disorder	A disease involving the bile duct.	NCIT:C96716|UMLS:C0005395|SCTID:118926004|MESH:D001649|DOID:4138	mondo.json	disease of bile duct|bile duct disease or disorder|bile duct disorder|disorder of bile duct|bile duct disease|disease or disorder of bile duct	http://purl.obolibrary.org/obo/MONDO_0002887	http://identifiers.org/snomedct/118926004|UMLS:C0005395|NCIT:C96716|http://identifiers.org/mesh/D001649|DOID:4138	
MONDO:0000222	biolink:Disease	seminal vesicle acute gonorrhea	Acute form of gonococcal seminal vesiculitis.	SCTID:65049003|DOID:0050004|UMLS:C0153194	mondo.json	acute gonococcal seminal vesiculitis|gonococcal seminal vesiculitis, acute	http://purl.obolibrary.org/obo/MONDO_0000222	UMLS:C0153194|DOID:0050004|http://identifiers.org/snomedct/65049003	
MONDO:0002888	biolink:Disease	intraorbital meningioma	A meningioma that affects the intraorbital structures.	UMLS:C1334261|DOID:4141|NCIT:C6778	mondo.json	intraorbital meningioma	http://purl.obolibrary.org/obo/MONDO_0002888	NCIT:C6778|UMLS:C1334261|DOID:4141	
MONDO:0000221	biolink:Disease	obsolete cerebroretinal microangiopathy with calcifications and cysts			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000221		
MONDO:0002889	biolink:Disease	orbital cancer	A primary or metastatic malignant neoplasm involving the orbit.	NCIT:C3290|DOID:4143|SCTID:127003006|ICD9:239.89|EFO:0007408|ICD9:190.1|NCIT:C3562	mondo.json	malignant orbital tumor|malignant tumor of orbit|malignant orbital neoplasm|neoplasm of orbit proper|cancer of orbit of skull|orbit of skull cancer|malignant neoplasm of orbit|malignant orbit neoplasm|orbit cancer|malignant neoplasm of the orbit|orbital tumor|malignant orbit of skull neoplasm|malignant neoplasm of orbit of skull|malignant orbit tumor|malignant tumor of the orbit	http://purl.obolibrary.org/obo/MONDO_0002889	NCIT:C3562|http://identifiers.org/snomedct/127003006|DOID:4143	
MONDO:0000220	biolink:Disease	obsolete anterior segment dysgenesis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000220		
MONDO:0000227	biolink:Disease	African tick-bite fever		DOID:0050035|UMLS:C1320317|SCTID:415561000	mondo.json	Rickettsia africae spotted fever|South African tick-bite fever	http://purl.obolibrary.org/obo/MONDO_0000227	http://identifiers.org/snomedct/415561000|UMLS:C1320317|DOID:0050035	
MONDO:0002882	biolink:Disease	colon neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the colon. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	NCIT:C5697|UMLS:C1333097|Orphanet:100080|DOID:4118	mondo.json	neuroendocrine tumor of the colon|colonic neuroendocrine neoplasm|colon neuroendocrine neoplasm|colon neuroendocrine tumor, well differentiated, low or intermediate grade|colonic neuroendocrine tumor|colon NET|colon neuroendocrine tumor|neuroendocrine neoplasm of colon|neuroendocrine neoplasm of the colon	http://purl.obolibrary.org/obo/MONDO_0002882	NCIT:C5697|Orphanet:100080|UMLS:C1333097|DOID:4118	
MONDO:0002883	biolink:Disease	intestinal neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the small or large intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	NCIT:C5695|UMLS:C1334231|DOID:4119	mondo.json	neuroendocrine neoplasm of intestine|neuroendocrine neoplasm of the intestine|neuroendocrine tumor of intestine|intestinal neuroendocrine neoplasm|intestine neuroendocrine tumor|intestine neuroendocrine neoplasm|intestine NET|intestinal neuroendocrine benign tumor|intestine neuroendocrine tumor, well differentiated, low or intermediate grade	http://purl.obolibrary.org/obo/MONDO_0002883	NCIT:C5695|UMLS:C1334231|DOID:4119	
MONDO:0000226	biolink:Disease	mineral metabolism disease		SCTID:45744005|ICD9:275.8|ICD10CM:E83|ICD9:275.9	mondo.json	disorder of mineral metabolism|disease of mineral metabolism	http://purl.obolibrary.org/obo/MONDO_0000226	http://purl.bioontology.org/ontology/ICD10CM/E83|http://identifiers.org/snomedct/45744005	
MONDO:0000225	biolink:Disease	human monocytic ehrlichiosis	A form of ehrlichiosis associated with Ehrlichia chaffeensis, an obligate intracellular pathogen affecting monocytes and macrophages.	SCTID:359747000|UMLS:C1282983|GARD:0000072|ICD9:082.41|DOID:0050026	mondo.json	ehrlichiosis chafeensis|Human ehrlichial infection, human monocytic type|human ehrlichiosis caused by Ehrlichia chaffeensis|HME|human ehrlichiosis due to Ehrlichia chaffeensis	http://purl.obolibrary.org/obo/MONDO_0000225	UMLS:C1282983|http://identifiers.org/snomedct/359747000|DOID:0050026	gard_rare
MONDO:0002884	biolink:Disease	nail disorder	A disease involving the nail.	UMLS:C0027339|SCTID:17790008|MESH:D009260|ICD9:703.9|ICD9:703|ICD9:703.8|DOID:4123	mondo.json	disease or disorder of nail|disease of nail|nail disease|nail disease or disorder|disorder of nail	http://purl.obolibrary.org/obo/MONDO_0002884	UMLS:C0027339|http://identifiers.org/mesh/D009260|DOID:4123|http://identifiers.org/snomedct/17790008	
MONDO:0000224	biolink:Disease	acquired carbohydrate metabolism disease	An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolism.	DOID:0050013	mondo.json	carbohydrate metabolism disease	http://purl.obolibrary.org/obo/MONDO_0000224	DOID:0050013	
MONDO:0002885	biolink:Disease	erythrasma	A chronic bacterial infection of major folds of the skin, caused by Corynebacterium minutissimum.	SCTID:264207005|ICD10CM:L08.1|DOID:4131|UMLS:C2364003|EFO:1000696|UMLS:C0014752|MESH:D004894|ICD9:041.85	mondo.json	infection due to Corynebacterium minutissimum	http://purl.obolibrary.org/obo/MONDO_0002885	UMLS:C2364003|http://identifiers.org/mesh/D004894|http://identifiers.org/snomedct/264207005|UMLS:C0014752|DOID:4131|http://purl.bioontology.org/ontology/ICD10CM/L08.1	
MONDO:0014849	biolink:Disease	obsolete autosomal recessive nonsyndromic deafness 105		OMIM:616958	mondo.json		http://purl.obolibrary.org/obo/MONDO_0014849	https://omim.org/entry/616958	
MONDO:0002880	biolink:Disease	ovarian adenosarcoma	A biphasic neoplasm that arises from the ovary and is characterized by the presence of mullerian-type epithelial tissue in a mesenchymal sarcomatous stroma. The presence of a high grade sarcomatous component is associated with recurrences and metastases.	NCIT:C7317|UMLS:C1335169|DOID:4115	mondo.json	ovarian adenosarcoma|ovarian Mullerian adenosarcoma|ovarian mullerian adenosarcoma|adenosarcoma of ovary|ovary adenosarcoma|ovarian Müllerian adenosarcoma|ovarian mesodermal adenosarcoma	http://purl.obolibrary.org/obo/MONDO_0002880	UMLS:C1335169|DOID:4115|NCIT:C7317	
MONDO:0014848	biolink:Disease	TELO2-related intellectual disability-neurodevelopmental disorder		EFO:0009061|Orphanet:488642|OMIM:616954|UMLS:C4310778	mondo.json	you-Hoover-Fong syndrome|YHFS	http://purl.obolibrary.org/obo/MONDO_0014848	UMLS:C4310778|https://omim.org/entry/616954|Orphanet:488642	ordo_malformation_syndrome
MONDO:0002881	biolink:Disease	vaginal adenosarcoma	A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component.	UMLS:C1519914|DOID:4117|NCIT:C40277	mondo.json	vaginal adenosarcoma|adenosarcoma of vagina|vaginal Mullerian adenosarcoma|vagina adenosarcoma|vaginal Müllerian adenosarcoma	http://purl.obolibrary.org/obo/MONDO_0002881	UMLS:C1519914|NCIT:C40277|DOID:4117	
MONDO:0014847	biolink:Disease	spermatogenic failure 15	Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene.	OMIM:616950|DOID:0070172|UMLS:C4310779	mondo.json	spermatogenic failure 15; SPGF15|SPGF15|spermatogenic failure type 15|spermatogenic failure 15|SYCE1 azoospermia|azoospermia caused by mutation in SYCE1	http://purl.obolibrary.org/obo/MONDO_0014847	https://omim.org/entry/616950|DOID:0070172|UMLS:C4310779	
MONDO:0014853	biolink:Disease	autosomal dominant nonsyndromic hearing loss 70	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene.	OMIM:616968|DOID:0110592|UMLS:C4310775	mondo.json	autosomal dominant nonsyndromic deafness type 70|autosomal dominant deafness 70|deafness, autosomal dominant 70|autosomal dominant nonsyndromic deafness caused by mutation in MCM2|autosomal dominant nonsyndromic deafness 70|DFNA70|deafness, autosomal dominant type 70|MCM2 autosomal dominant nonsyndromic deafness	http://purl.obolibrary.org/obo/MONDO_0014853	DOID:0110592|https://omim.org/entry/616968|UMLS:C4310775	
MONDO:0014852	biolink:Disease	obsolete palmoplantar carcinoma, multiple self-healing			mondo.json		http://purl.obolibrary.org/obo/MONDO_0014852		
NCBITaxon:169449	biolink:OrganismalEntity	Coelopinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_169449		
MONDO:0014851	biolink:Disease	hypercalcemia, infantile, 2	Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene.	OMIM:616963|UMLS:CN847585|UMLS:C4310473|UMLS:CN262351|UMLS:CN774236	mondo.json	hypercalcemia, infantile, type 2|hypercalcemia, infantile 2|HCINF2|hypercalcemia, infantile, 2|SLC34A1 autosomal recessive infantile hypercalcemia|autosomal recessive infantile hypercalcemia caused by mutation in SLC34A1	http://purl.obolibrary.org/obo/MONDO_0014851	https://omim.org/entry/616963|UMLS:CN774236|UMLS:CN262351|UMLS:C4310473|UMLS:CN847585	
MONDO:0014850	biolink:Disease	retinitis pigmentosa and erythrocytic microcytosis		OMIM:616959|UMLS:C4310776	mondo.json	RPEM|retinitis pigmentosa and erythrocytic microcytosis; RPEM|retinitis pigmentosa and erythrocytic microcytosis	http://purl.obolibrary.org/obo/MONDO_0014850	https://omim.org/entry/616959|UMLS:C4310776	
MONDO:0014857	biolink:Disease	neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		UMLS:C4310772|OMIM:616975|Orphanet:494344	mondo.json	NEDBEH|neurodevelopmental disorder with or without anomalies of the brain, eye, or heart|rere-related neurodevelopmental syndrome|neurodevelopmental disorder with or without anomalies of the brain, eye, or heart; NEDBEH	http://purl.obolibrary.org/obo/MONDO_0014857	Orphanet:494344|https://omim.org/entry/616975|UMLS:C4310772	
MONDO:0014856	biolink:Disease	combined oxidative phosphorylation defect type 30	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene.	UMLS:C4310773|EFO:0009038|Orphanet:478042|DOID:0111471|OMIM:616974	mondo.json	combined oxidative phosphorylation deficiency caused by mutation in TRMT10C|combined oxidative phosphorylation deficiency type 30|COXPD30|combined oxidative phosphorylation deficiency 30|TRMT10C combined oxidative phosphorylation deficiency	http://purl.obolibrary.org/obo/MONDO_0014856	DOID:0111471|https://omim.org/entry/616974|UMLS:C4310773|Orphanet:478042	ordo_disease
MONDO:0014855	biolink:Disease	intellectual disability, autosomal dominant 42	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GNB1 gene.	OMIM:616973|DOID:0070072|UMLS:C4310774	mondo.json	intellectual disability, autosomal dominant 42|intellectual disability, autosomal dominant type 42|mental retardation, autosomal dominant 42|mental retardation, autosomal dominant type 42|GNB1 autosomal dominant non-syndromic intellectual disability|MRD42|Gnb1 autosomal dominant non-syndromic intellectual disability|intellectual developmental disorder, autosomal dominant 42|autosomal dominant intellectual disability 42|autosomal dominant non-syndromic intellectual disability caused by mutation in Gnb1|autosomal dominant non-syndromic intellectual disability caused by mutation in GNB1|autosomal dominant non-syndromic intellectual disability 42|autosomal dominant mental retardation 42	http://purl.obolibrary.org/obo/MONDO_0014855	https://omim.org/entry/616973|DOID:0070072|UMLS:C4310774	
MONDO:0014854	biolink:Disease	autosomal dominant nonsyndromic hearing loss 66	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene.	DOID:0110587|UMLS:C4283893|OMIM:616969	mondo.json	autosomal dominant nonsyndromic deafness 66|autosomal dominant deafness 66|deafness, autosomal dominant type 66|DFNA66|autosomal dominant nonsyndromic deafness type 66|autosomal dominant nonsyndromic deafness caused by mutation in CD164|deafness, autosomal dominant 66|CD164 autosomal dominant nonsyndromic deafness	http://purl.obolibrary.org/obo/MONDO_0014854	DOID:0110587|https://omim.org/entry/616969|UMLS:C4283893	
MONDO:0000219	biolink:Disease	obsolete uncombable hair syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000219		
MONDO:0000218	biolink:Disease	obsolete preimplantation embryonic lethality		OMIMPS:616814|UMLS:CN282827	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000218	https://omim.org/phenotypicSeries/PS616814|UMLS:CN282827	
MONDO:0000217	biolink:Disease	obsolete Frontometaphyseal dysplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000217		
MONDO:0002879	biolink:Disease	uterine body mixed cancer	A primary malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. This category includes carcinosarcoma, carcinofibroma, and adenosarcoma.	DOID:4114|UMLS:C1334628|NCIT:C6311	mondo.json	malignant mixed tumor of corpus uteri|malignant mixed neoplasm of uterine body|malignant mixed neoplasm of the uterine body|malignant body of uterus mixed tumor|malignant corpus uteri mixed tumor|malignant mixed tumor of uterine body|malignant mixed tumor of the uterine body|malignant uterine corpus mixed tumor|malignant uterine body mixed neoplasm|malignant uterine corpus mixed epithelial and mesenchymal neoplasm|malignant mixed neoplasm of body of uterus|malignant mixed neoplasm of corpus uteri|malignant mixed neoplasm of the corpus uteri|malignant mixed neoplasm of the body of uterus|malignant mixed neoplasm of uterine corpus|malignant mixed neoplasm of the uterine corpus|malignant uterine body mixed tumor|malignant mixed tumor of body of uterus|malignant mixed tumor of the corpus uteri|malignant mixed tumor of the body of uterus|malignant corpus uteri mixed neoplasm|malignant body of uterus mixed neoplasm|malignant mixed tumor of uterine corpus|malignant mixed tumor of the uterine corpus	http://purl.obolibrary.org/obo/MONDO_0002879	NCIT:C6311|UMLS:C1334628|DOID:4114	
NCBITaxon:12066	biolink:OrganismalEntity	Coxsackievirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_12066		
NCIT:C16273	biolink:NamedThing	Alcohol Consumption	Consumption of liquids containing ethanol, including the behaviors associated with drinking the alcohol.		mondo.json	Alcohol Consumption	http://purl.obolibrary.org/obo/NCIT_C16273		http://purl.obolibrary.org/obo/NCIT_C159106|http://purl.obolibrary.org/obo/NCIT_C157529|http://purl.obolibrary.org/obo/NCIT_C157711|http://purl.obolibrary.org/obo/NCIT_C156954|http://purl.obolibrary.org/obo/NCIT_C156953|http://purl.obolibrary.org/obo/NCIT_C156952
NCBITaxon:36087	biolink:OrganismalEntity	Trichuris trichiura		GC_ID:1	mondo.json	human whipworm	http://purl.obolibrary.org/obo/NCBITaxon_36087		
NCBITaxon:36086	biolink:OrganismalEntity	Trichuris		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_36086		
HGNC:8927	biolink:NamedThing	PHKB			mondo.json		http://identifiers.org/hgnc/8927		
GO:0061041	biolink:NamedThing	regulation of wound healing	Any process that modulates the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury.		mondo.json		http://purl.obolibrary.org/obo/GO_0061041		
GO:0061045	biolink:NamedThing	negative regulation of wound healing	Any process that decreases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury.		mondo.json		http://purl.obolibrary.org/obo/GO_0061045		
HGNC:8931	biolink:NamedThing	PHKG2			mondo.json		http://identifiers.org/hgnc/8931		
UBERON:0011628	biolink:AnatomicalEntity	early premaxilla			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011628		
NCBITaxon:169455	biolink:OrganismalEntity	Coelopellini		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_169455		
NCBITaxon:2129	biolink:OrganismalEntity	Ureaplasma		PMID:11034506|PMID:8782697|GC_ID:4|PMID:1906731|PMID:2223597	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2129		
NCBITaxon:85004	biolink:OrganismalEntity	Bifidobacteriales		PMID:19244447|GC_ID:11|PMID:27446019	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_85004		
NCBITaxon:85007	biolink:OrganismalEntity	Corynebacteriales		PMID:19244447|GC_ID:11|PMID:1736962|PMID:11837321|PMID:31157615	mondo.json	Mycobacteriales|Corynebacterineae|Corynebacteriales Goodfellow and Jones 2015|Mycobacteriales Janke 1924 (Approved Lists 1980)	http://purl.obolibrary.org/obo/NCBITaxon_85007		
NCBITaxon:85006	biolink:OrganismalEntity	Micrococcales		PMID:20190019|PMID:19244447|GC_ID:11|PMID:30186281|PMID:19542112|PMID:11837321	mondo.json	Micrococcineae	http://purl.obolibrary.org/obo/NCBITaxon_85006		
GO:0061035	biolink:NamedThing	regulation of cartilage development	Any process that modulates the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate.		mondo.json		http://purl.obolibrary.org/obo/GO_0061035		
GO:0061036	biolink:NamedThing	positive regulation of cartilage development	Any process that increases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate.		mondo.json		http://purl.obolibrary.org/obo/GO_0061036		
HGNC:8941	biolink:NamedThing	SERPINA1			mondo.json		http://identifiers.org/hgnc/8941		
GO:0061037	biolink:NamedThing	negative regulation of cartilage development	Any process that decreases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate.		mondo.json		http://purl.obolibrary.org/obo/GO_0061037		
HGNC:8943	biolink:NamedThing	SERPINI1			mondo.json		http://identifiers.org/hgnc/8943		
UBERON:0035606	biolink:AnatomicalEntity	cartilage of external acoustic meatus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035606		
UBERON:0035608	biolink:AnatomicalEntity	dura mater lymph vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035608		
GO:0002757	biolink:NamedThing	immune response-activating signal transduction	The series of molecular signals generated by a ligand binding to its receptor that ultimately lead to the activation or perpetuation of an immune response.		mondo.json		http://purl.obolibrary.org/obo/GO_0002757		
GO:0097006	biolink:NamedThing	regulation of plasma lipoprotein particle levels	Any process involved in the maintenance of internal levels of plasma lipoprotein particles within an organism.		mondo.json	plasma lipoprotein particle homeostasis	http://purl.obolibrary.org/obo/GO_0097006		
HP:0011804	biolink:PhenotypicFeature	Abnormal muscle physiology	A functional abnormality of a skeletal muscle.	UMLS:C4023182	mondo.json	Abnormality of muscle physiology|Issue with muscle function	http://purl.obolibrary.org/obo/HP_0011804		
HP:0011805	biolink:PhenotypicFeature	Abnormal skeletal muscle morphology	A structural abnormality of a skeletal muscle.	UMLS:C4023181	mondo.json	Abnormal muscle morphology|Abnormally shaped muscle|Issue with muscle structure|Abnormality of muscle morphology	http://purl.obolibrary.org/obo/HP_0011805		
HGNC:8940	biolink:NamedThing	PHYH			mondo.json		http://identifiers.org/hgnc/8940		
GO:0002759	biolink:NamedThing	regulation of antimicrobial humoral response	Any process that modulates the frequency, rate, or extent of an antimicrobial humoral response.		mondo.json		http://purl.obolibrary.org/obo/GO_0002759		
CHEBI:38497	biolink:ChemicalSubstance	respiratory-chain inhibitor			mondo.json		http://purl.obolibrary.org/obo/CHEBI_38497		
CHEBI:38496	biolink:ChemicalSubstance	electron-transport chain inhibitor			mondo.json		http://purl.obolibrary.org/obo/CHEBI_38496		
GO:0002720	biolink:NamedThing	positive regulation of cytokine production involved in immune response	Any process that activates or increases the frequency, rate, or extent of cytokine production that contributes to an immune response.		mondo.json	activation of cytokine production during immune response|up regulation of cytokine production during immune response|positive regulation of cytokine biosynthetic process involved in immune response|up-regulation of cytokine production during immune response|positive regulation of cytokine secretion involved in immune response|upregulation of cytokine production during immune response|stimulation of cytokine production during immune response|positive regulation of cytokine production during immune response	http://purl.obolibrary.org/obo/GO_0002720		
NCBITaxon:4753	biolink:OrganismalEntity	Pneumocystis		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_4753		
NCBITaxon:4751	biolink:OrganismalEntity	Fungi		PMID:11062127|PMID:12684019|GC_ID:1	mondo.json	Mycota|fungi	http://purl.obolibrary.org/obo/NCBITaxon_4751		
CHEBI:51446	biolink:ChemicalSubstance	organic divalent group			mondo.json		http://purl.obolibrary.org/obo/CHEBI_51446		
CHEBI:51447	biolink:ChemicalSubstance	organic univalent group			mondo.json		http://purl.obolibrary.org/obo/CHEBI_51447		
GO:0014706	biolink:NamedThing	striated muscle tissue development	The process whose specific outcome is the progression of a striated muscle over time, from its formation to the mature structure. Striated muscle contain fibers that are divided by transverse bands into striations, and cardiac and skeletal muscle are types of striated muscle. Skeletal muscle myoblasts fuse to form myotubes and eventually multinucleated muscle fibers. The fusion of cardiac cells is very rare and can only form binucleate cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0014706		
GO:0061061	biolink:NamedThing	muscle structure development	The progression of a muscle structure over time, from its formation to its mature state. Muscle structures are contractile cells, tissues or organs that are found in multicellular organisms.		mondo.json		http://purl.obolibrary.org/obo/GO_0061061		
HGNC:8952	biolink:NamedThing	SERPINB8			mondo.json		http://identifiers.org/hgnc/8952		
UBERON:0011602	biolink:AnatomicalEntity	gingiva of lower jaw			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011602		
UBERON:0011601	biolink:AnatomicalEntity	gingiva of upper jaw			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011601		
NCBITaxon:12090	biolink:OrganismalEntity	enterovirus D70		GC_ID:1	mondo.json	Enterovirus type 70|Enterovirus 70|Human enterovirus 70	http://purl.obolibrary.org/obo/NCBITaxon_12090		
HGNC:8957	biolink:NamedThing	PIGA			mondo.json		http://identifiers.org/hgnc/8957		
NCBITaxon:12092	biolink:OrganismalEntity	Hepatovirus A		GC_ID:1	mondo.json	Hepatitis A virus|HAV	http://purl.obolibrary.org/obo/NCBITaxon_12092		
HGNC:8959	biolink:NamedThing	PIGB			mondo.json		http://identifiers.org/hgnc/8959		
NCBITaxon:12091	biolink:OrganismalEntity	Hepatovirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_12091		
HGNC:8950	biolink:NamedThing	SERPINB6			mondo.json		http://identifiers.org/hgnc/8950		
NCBITaxon:85025	biolink:OrganismalEntity	Nocardiaceae		GC_ID:11|PMID:30186281|PMID:19244447	mondo.json	Williamsiaceae	http://purl.obolibrary.org/obo/NCBITaxon_85025		
GO:0099643	biolink:NamedThing	signal release from synapse	Any signal release from a synapse.		mondo.json		http://purl.obolibrary.org/obo/GO_0099643		
NCBITaxon:2104	biolink:OrganismalEntity	Mycoplasma pneumoniae		GC_ID:4|PMID:19871393|PMID:4867945|PMID:29556819|PMID:31971499|PMID:31385780	mondo.json	Schizoplasma pneumoniae|Filterable agent of primary atypical pneumonia|Mycoplasmoides pneumoniae|Mycoplasmoides pneumoniae (Somerson et al. 1963) Gupta et al. 2018	http://purl.obolibrary.org/obo/NCBITaxon_2104		
ENVO:01001813	biolink:NamedThing	construction	A material entity which has been assembled through the intentional, instinctual, or deliberately programmed efforts of an organism or machine.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001813		
NCBITaxon:169495	biolink:OrganismalEntity	This		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_169495		
ENVO:01001814	biolink:NamedThing	organic object	An object which is formed as a result of one or more biological processes and is composed primarily of organic material.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001814		
HGNC:8966	biolink:NamedThing	PIGL			mondo.json		http://identifiers.org/hgnc/8966		
HGNC:8965	biolink:NamedThing	PIGK			mondo.json		http://identifiers.org/hgnc/8965		
HGNC:8967	biolink:NamedThing	PIGN			mondo.json		http://identifiers.org/hgnc/8967		
HGNC:6307	biolink:NamedThing	KDR			mondo.json		http://identifiers.org/hgnc/6307		
MONDO:0002810	biolink:Disease	pancreatic serous cystic neoplasm	A benign or malignant epithelial neoplasm that is usually cystic and arises from the exocrine pancreas. It is characterized by the presence of neoplastic epithelial cells that produce fluid similar to serum. Representative examples include serous cystadenoma and serous cystadenocarcinoma.	UMLS:C1518875|NCIT:C41248|DOID:3919	mondo.json	pancreatic serous neoplasm|pancreatic serous cystic neoplasm	http://purl.obolibrary.org/obo/MONDO_0002810	NCIT:C41248|DOID:3919|UMLS:C1518875	
GO:0099699	biolink:NamedThing	integral component of synaptic membrane	The component of the synaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.		mondo.json		http://purl.obolibrary.org/obo/GO_0099699		
MONDO:0002811	biolink:Disease	main bronchus cancer	A malignant neoplasm involving the main bronchus.	DOID:3924|ICD9:162.2|SCTID:372065009|UMLS:C0153490	mondo.json	malignant main bronchus neoplasm|Ca main bronchus|malignant neoplasm of main bronchus|main bronchus cancer|cancer of main bronchus	http://purl.obolibrary.org/obo/MONDO_0002811	UMLS:C0153490|http://identifiers.org/snomedct/372065009|DOID:3924	
GO:0002700	biolink:NamedThing	regulation of production of molecular mediator of immune response	Any process that modulates the frequency, rate, or extent of the production of molecular mediator of immune response.		mondo.json		http://purl.obolibrary.org/obo/GO_0002700		
MONDO:0002812	biolink:Disease	infectious otitis interna	Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common. In rare cases an infection of the middle ear can spread to the inner ear, resulting in a bacterial or fungal etiology.	NCIT:C27339|UMLS:C1168225	mondo.json	infectious otitis interna|inner Ear infection|internal Ear infection|infectious labyrinthitis|inner ear infection	http://purl.obolibrary.org/obo/MONDO_0002812	NCIT:C27339|UMLS:C1168225	
GO:0002701	biolink:NamedThing	negative regulation of production of molecular mediator of immune response	Any process that stops, prevents, or reduces the frequency, rate, or extent of the production of molecular mediator of immune response.		mondo.json	down-regulation of production of molecular mediator of immune response|down regulation of production of molecular mediator of immune response|inhibition of production of molecular mediator of immune response|downregulation of production of molecular mediator of immune response	http://purl.obolibrary.org/obo/GO_0002701		
CHEBI:51422	biolink:ChemicalSubstance	organodiyl group	Any organic substituent group, regardless of functional type, having two free valences at carbon atom(s).		mondo.json	organodiyl groups	http://purl.obolibrary.org/obo/CHEBI_51422		
NCBITaxon:2157	biolink:OrganismalEntity	Archaea		PMID:11542149|PMID:2112744|PMID:10843050|PMID:10939673|PMID:10939651|PMID:11211268|PMID:11321113|PMID:10490293|PMID:25527841|PMID:10425797|PMID:270744|PMID:10425796|PMID:11411719|PMID:8123559|PMID:10425795|PMID:11542064|GC_ID:11|PMID:11321083|PMID:11540071|PMID:9336922|PMID:11760965|PMID:9103655|PMID:10939677|PMID:8590690|PMID:11541975|PMID:12054223	mondo.json	Procaryotae|Archaebacteria|Monera|prokaryote|Metabacteria|Prokaryotae|Prokaryota|Mendosicutes|archaea|prokaryotes	http://purl.obolibrary.org/obo/NCBITaxon_2157		
HGNC:6309	biolink:NamedThing	KERA			mondo.json		http://identifiers.org/hgnc/6309		
UBERON:0011676	biolink:AnatomicalEntity	subdivision of organism along main body axis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011676		
HGNC:8975	biolink:NamedThing	PIK3CA			mondo.json		http://identifiers.org/hgnc/8975		
HGNC:8977	biolink:NamedThing	PIK3CD			mondo.json		http://identifiers.org/hgnc/8977		
HGNC:6315	biolink:NamedThing	KHK			mondo.json		http://identifiers.org/hgnc/6315		
MONDO:0014802	biolink:Disease	Cowden syndrome 7	Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene.	OMIM:616858|UMLS:C4225179	mondo.json	CWS7|Cowden syndrome 7|Cowden syndrome type 7|SEC23B Cowden disease|Cowden disease caused by mutation in SEC23B	http://purl.obolibrary.org/obo/MONDO_0014802	UMLS:C4225179|https://omim.org/entry/616858	
HGNC:8979	biolink:NamedThing	PIK3R1			mondo.json		http://identifiers.org/hgnc/8979		
MONDO:0014801	biolink:Disease	even-plus syndrome		UMLS:C4225180|Orphanet:496751|OMIM:616854	mondo.json	epiphyseal and vertebral dysplasia, microtia, and flat Nose, plus associated malformations|EVPLS|even-plus syndrome|epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome	http://purl.obolibrary.org/obo/MONDO_0014801	Orphanet:496751|UMLS:C4225180|https://omim.org/entry/616854	ordo_malformation_syndrome
HGNC:6317	biolink:NamedThing	KIF1C			mondo.json		http://identifiers.org/hgnc/6317		
MONDO:0014800	biolink:Disease	progressive scapulohumeroperoneal distal myopathy		UMLS:C4225181|Orphanet:447977|OMIM:616852	mondo.json	myopathy, scapulohumeroperoneal|SHPM	http://purl.obolibrary.org/obo/MONDO_0014800	UMLS:C4225181|https://omim.org/entry/616852|Orphanet:447977	ordo_disease
HGNC:6318	biolink:NamedThing	KIF2A			mondo.json		http://identifiers.org/hgnc/6318		
MONDO:0002806	biolink:Disease	bronchogenic carcinoma	A lung carcinoma arising from the bronchial epithelium.	CSP:2017-6052|MESH:D002283|UMLS:C0007121|DOID:3904|EFO:1001942|NCIT:C35875|ICD9:162.9|SCTID:254622008	mondo.json	bronchogenic lung carcinoma|carcinoma of bronchus|bronchial carcinoma|bronchiogenic carcinoma|bronchogenic carcinoma|bronchus carcinoma|carcinoma, bronchial, malignant|BC - bronchogenic carcinoma|bronchogenic lung cancer	http://purl.obolibrary.org/obo/MONDO_0002806	DOID:3904|http://identifiers.org/mesh/D002283|NCIT:C35875|http://identifiers.org/snomedct/254622008|UMLS:C0007121	
GO:0002706	biolink:NamedThing	regulation of lymphocyte mediated immunity	Any process that modulates the frequency, rate, or extent of lymphocyte mediated immunity.		mondo.json		http://purl.obolibrary.org/obo/GO_0002706		
MONDO:0002807	biolink:Disease	bronchial neoplasm	Tumors or cancer of the bronchi.	UMLS:C0006264|EFO:1000849|SCTID:126705004|HP:0030077|DOID:3906|MESH:D001984	mondo.json	tumor of bronchus|bronchus neoplasm|neoplasm of bronchus|bronchus tumor|bronchial neoplasm|bronchial neoplasm (disease)|bronchus neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0002807	http://identifiers.org/snomedct/126705004|DOID:3906|http://identifiers.org/mesh/D001984|UMLS:C0006264	
GO:0002707	biolink:NamedThing	negative regulation of lymphocyte mediated immunity	Any process that stops, prevents, or reduces the frequency, rate, or extent of lymphocyte mediated immunity.		mondo.json	downregulation of lymphocyte mediated immunity|down regulation of lymphocyte mediated immunity|inhibition of lymphocyte mediated immunity|down-regulation of lymphocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002707		
MONDO:0002808	biolink:Disease	pancreatic serous cystadenoma	A benign, non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of glycogen-rich epithelial cells which produce a watery fluid. Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss.	DOID:3917|ONCOTREE:PSC|NCIT:C5712|UMLS:C1335316	mondo.json	pancreatic serous cystadenoma|pancreatic microcystic adenoma|serous cystadenoma of pancreas|serous cystadenoma of the pancreas|pancreas serous cystadenoma|PSC	http://purl.obolibrary.org/obo/MONDO_0002808	DOID:3917|NCIT:C5712|UMLS:C1335316	
GO:0002708	biolink:NamedThing	positive regulation of lymphocyte mediated immunity	Any process that activates or increases the frequency, rate, or extent of lymphocyte mediated immunity.		mondo.json	stimulation of lymphocyte mediated immunity|up regulation of lymphocyte mediated immunity|up-regulation of lymphocyte mediated immunity|activation of lymphocyte mediated immunity|upregulation of lymphocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002708		
MONDO:0002809	biolink:Disease	pancreatic cystadenoma	A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas.	SCTID:235967003|DOID:3918|NCIT:C4374|UMLS:C0341486	mondo.json	exocrine pancreas cystadenoma|pancreatic cystadenoma|cystadenoma of pancreas|cystadenoma of the pancreas	http://purl.obolibrary.org/obo/MONDO_0002809	UMLS:C0341486|DOID:3918|http://identifiers.org/snomedct/235967003|NCIT:C4374	
GO:0002709	biolink:NamedThing	regulation of T cell mediated immunity	Any process that modulates the frequency, rate, or extent of T cell mediated immunity.		mondo.json	regulation of T-lymphocyte mediated immunity|regulation of T-cell mediated immunity|regulation of T lymphocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002709		
HP:0011858	biolink:PhenotypicFeature	Reduced factor IX activity	Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.	UMLS:C4023159	mondo.json	Low factor IX activity	http://purl.obolibrary.org/obo/HP_0011858		
GO:0002702	biolink:NamedThing	positive regulation of production of molecular mediator of immune response	Any process that activates or increases the frequency, rate, or extent of the production of molecular mediator of immune response.		mondo.json	stimulation of production of molecular mediator of immune response|upregulation of production of molecular mediator of immune response|up-regulation of production of molecular mediator of immune response|up regulation of production of molecular mediator of immune response|activation of production of molecular mediator of immune response	http://purl.obolibrary.org/obo/GO_0002702		
MONDO:0002802	biolink:Disease	functional colonic disease	Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. The widely recognized irritable bowel syndrome falls into this category.	DOID:3877|UMLS:C0009374|MESH:D003109	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002802	http://identifiers.org/mesh/D003109|UMLS:C0009374|DOID:3877	
MONDO:0002803	biolink:Disease	intestinal pseudo-obstruction	Intestinal pseudo-obstruction is a digestive disorder in whichthe intestinal walls are unable to contract normally (called hypomotility); the conditionresembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive ; and other symptoms. It may be classified as neuropathic (from lack of nerve function)or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner)and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms andensure that nutritional support is adequate.	EFO:1000988|OMIM:609629|SCTID:235825006|ICD9:569.89|DOID:3878|NCIT:C34733|MESH:D007418|GARD:0006789	mondo.json	pseudo-obstruction of intestine|intestine pseudoobstruction|intestinal pseudo-obstruction|intestinal pseudoobstruction|hollow visceral myopathy	http://purl.obolibrary.org/obo/MONDO_0002803	NCIT:C34733|http://identifiers.org/snomedct/235825006|http://identifiers.org/mesh/D007418	gard_rare
GO:0002703	biolink:NamedThing	regulation of leukocyte mediated immunity	Any process that modulates the frequency, rate, or extent of leukocyte mediated immunity.		mondo.json	regulation of immune cell mediated immunity|regulation of leucocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002703		
GO:0002704	biolink:NamedThing	negative regulation of leukocyte mediated immunity	Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte mediated immunity.		mondo.json	down-regulation of leukocyte mediated immunity|down regulation of leukocyte mediated immunity|downregulation of leukocyte mediated immunity|inhibition of leukocyte mediated immunity|negative regulation of immune cell mediated immunity|negative regulation of leucocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002704		
MONDO:0002804	biolink:Disease	apocrine adenoma	A benign epithelial neoplasm arising from the apocrine sweat glands. Representative examples include tubular apocrine adenoma and external auditory canal ceruminous adenoma.	NCIT:C4168|SCTID:307596009|DOID:3895|ICDO:8401/0|UMLS:C0334345	mondo.json	tubular apocrine adenoma	http://purl.obolibrary.org/obo/MONDO_0002804	NCIT:C4168|UMLS:C0334345|http://identifiers.org/snomedct/307596009|DOID:3895	
GO:0002705	biolink:NamedThing	positive regulation of leukocyte mediated immunity	Any process that activates or increases the frequency, rate, or extent of leukocyte mediated immunity.		mondo.json	upregulation of leukocyte mediated immunity|positive regulation of immune cell mediated immunity|positive regulation of leucocyte mediated immunity|up-regulation of leukocyte mediated immunity|up regulation of leukocyte mediated immunity|activation of leukocyte mediated immunity|stimulation of leukocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002705		
MONDO:0002805	biolink:Disease	hidradenoma	A benign epithelial neoplasm arising from the sweat glands. Variants include the clear cell and nodular hidradenoma.	SCTID:400099008|NCIT:C7563|DOID:3896	mondo.json	syringoadenoma|eccrine acrospiroma|hidradenoma of skin|sweat gland adenoma|acrospiroma|hidradenoma	http://purl.obolibrary.org/obo/MONDO_0002805	NCIT:C7563|DOID:3896	
MONDO:0002820	biolink:Disease	obsolete thyroid carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002820		
GO:0002710	biolink:NamedThing	negative regulation of T cell mediated immunity	Any process that stops, prevents, or reduces the frequency, rate, or extent of T cell mediated immunity.		mondo.json	negative regulation of T-lymphocyte mediated immunity|downregulation of T cell mediated immunity|down regulation of T cell mediated immunity|inhibition of T cell mediated immunity|down-regulation of T cell mediated immunity|negative regulation of T-cell mediated immunity|negative regulation of T lymphocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002710		
MONDO:0002821	biolink:Disease	trabecular follicular adenocarcinoma		DOID:3964|UMLS:C0334327	mondo.json	follicular adenocarcinoma, trabecular|follicular adenocarcinoma, trabecular (morphologic abnormality)|trabecular follicular carcinoma	http://purl.obolibrary.org/obo/MONDO_0002821	DOID:3964|UMLS:C0334327	
GO:0002711	biolink:NamedThing	positive regulation of T cell mediated immunity	Any process that activates or increases the frequency, rate, or extent of T cell mediated immunity.		mondo.json	stimulation of T cell mediated immunity|up regulation of T cell mediated immunity|positive regulation of T-cell mediated immunity|positive regulation of T lymphocyte mediated immunity|up-regulation of T cell mediated immunity|activation of T cell mediated immunity|positive regulation of T-lymphocyte mediated immunity|upregulation of T cell mediated immunity	http://purl.obolibrary.org/obo/GO_0002711		
MONDO:0002822	biolink:Disease	trabecular adenocarcinoma	A malignant epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern.	ICDO:8190/3|DOID:3965|ICDO:8332/3|UMLS:C0302182|NCIT:C4068	mondo.json	trabecular adenocarcinoma (morphologic abnormality)|trabecular adenocarcinoma|trabecular carcinoma|trabecula adenocarcinoma|Merkel cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002822	UMLS:C0302182|DOID:3965|NCIT:C4068	
MONDO:0002823	biolink:Disease	obsolete thyroid gland medullary carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002823		
GO:0002712	biolink:NamedThing	regulation of B cell mediated immunity	Any process that modulates the frequency, rate, or extent of B cell mediated immunity.		mondo.json	regulation of B-cell mediated immunity|regulation of B lymphocyte mediated immunity|regulation of B-lymphocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002712		
HP:0011842	biolink:PhenotypicFeature	Abnormal skeletal morphology	An abnormality of the form, structure, or size of the skeletal system.	UMLS:C4023165	mondo.json	Abnormally shaped skeletal|Abnormality of skeletal morphology	http://purl.obolibrary.org/obo/HP_0011842		
HGNC:6323	biolink:NamedThing	KIF5A			mondo.json		http://identifiers.org/hgnc/6323		
HGNC:6325	biolink:NamedThing	KIF5C			mondo.json		http://identifiers.org/hgnc/6325		
GO:1903284	biolink:NamedThing	positive regulation of glutathione peroxidase activity	Any process that activates or increases the frequency, rate or extent of glutathione peroxidase activity.		mondo.json	up regulation of non-selenium glutathione peroxidase activity|up-regulation of glutathione peroxidase activity|positive regulation of selenium-glutathione peroxidase activity|enhancement of GPX activity|up regulation of selenium-glutathione peroxidase activity|up-regulation of reduced glutathione peroxidase activity|up-regulation of GSH peroxidase activity|upregulation of glutathione:hydrogen-peroxide oxidoreductase activity|up regulation of glutathione peroxidase activity|up-regulation of non-selenium glutathione peroxidase activity|up-regulation of selenium-glutathione peroxidase activity|up regulation of GSH peroxidase activity|up regulation of reduced glutathione peroxidase activity|activation of glutathione peroxidase activity|activation of selenium-glutathione peroxidase activity|activation of GSH peroxidase activity|positive regulation of GSH peroxidase activity|activation of reduced glutathione peroxidase activity|positive regulation of reduced glutathione peroxidase activity|upregulation of glutathione peroxidase activity|activation of non-selenium glutathione peroxidase activity|upregulation of non-selenium glutathione peroxidase activity|up-regulation of glutathione:hydrogen-peroxide oxidoreductase activity|upregulation of reduced glutathione peroxidase activity|upregulation of GSH peroxidase activity|upregulation of selenium-glutathione peroxidase activity|up regulation of glutathione:hydrogen-peroxide oxidoreductase activity|positive regulation of non-selenium glutathione peroxidase activity|positive regulation of glutathione:hydrogen-peroxide oxidoreductase activity|activation of glutathione:hydrogen-peroxide oxidoreductase activity	http://purl.obolibrary.org/obo/GO_1903284		
GO:1903283	biolink:NamedThing	negative regulation of glutathione peroxidase activity	Any process that stops, prevents or reduces the frequency, rate or extent of glutathione peroxidase activity.		mondo.json	downregulation of glutathione peroxidase activity|inhibition of reduced glutathione peroxidase activity|inhibition of GSH peroxidase activity|downregulation of non-selenium glutathione peroxidase activity|downregulation of GSH peroxidase activity|downregulation of reduced glutathione peroxidase activity|negative regulation of glutathione:hydrogen-peroxide oxidoreductase activity|down-regulation of glutathione:hydrogen-peroxide oxidoreductase activity|downregulation of selenium-glutathione peroxidase activity|down regulation of non-selenium glutathione peroxidase activity|down regulation of glutathione:hydrogen-peroxide oxidoreductase activity|inhibition of glutathione:hydrogen-peroxide oxidoreductase activity|down-regulation of glutathione peroxidase activity|down-regulation of non-selenium glutathione peroxidase activity|negative regulation of non-selenium glutathione peroxidase activity|down regulation of selenium-glutathione peroxidase activity|inhibition of selenium-glutathione peroxidase activity|downregulation of glutathione:hydrogen-peroxide oxidoreductase activity|down-regulation of GSH peroxidase activity|negative regulation of reduced glutathione peroxidase activity|negative regulation of GSH peroxidase activity|down-regulation of reduced glutathione peroxidase activity|negative regulation of selenium-glutathione peroxidase activity|down-regulation of selenium-glutathione peroxidase activity|down regulation of glutathione peroxidase activity|inhibition of non-selenium glutathione peroxidase activity|down regulation of reduced glutathione peroxidase activity|down regulation of GSH peroxidase activity|inhibition of glutathione peroxidase activity	http://purl.obolibrary.org/obo/GO_1903283		
GO:1903282	biolink:NamedThing	regulation of glutathione peroxidase activity	Any process that modulates the frequency, rate or extent of glutathione peroxidase activity.		mondo.json	regulation of non-selenium glutathione peroxidase activity|regulation of selenium-glutathione peroxidase activity|regulation of glutathione:hydrogen-peroxide oxidoreductase activity|regulation of reduced glutathione peroxidase activity|regulation of GSH peroxidase activity	http://purl.obolibrary.org/obo/GO_1903282		
HP:0008207	biolink:PhenotypicFeature	Primary adrenal insufficiency	Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.	SNOMEDCT_US:373662000|SNOMEDCT_US:363732003|SNOMEDCT_US:386584007|MSH:D000224|UMLS:C0001403|UMLS:C0405580	mondo.json	Primary adrenocortical failure|Addison disease|Adrenocortical insufficiency|Addison's disease	http://purl.obolibrary.org/obo/HP_0008207		
GO:0002717	biolink:NamedThing	positive regulation of natural killer cell mediated immunity	Any process that activates or increases the frequency, rate, or extent of natural killer cell mediated immunity.		mondo.json	up regulation of natural killer cell mediated immunity|positive regulation of natural killer cell activity|activation of natural killer cell mediated immunity|stimulation of natural killer cell mediated immunity|upregulation of natural killer cell mediated immunity|positive regulation of NK cell activity|up-regulation of natural killer cell mediated immunity|positive regulation of NK cell mediated immunity	http://purl.obolibrary.org/obo/GO_0002717		
MONDO:0002817	biolink:Disease	adrenal gland cancer	A malignant neoplasm involving the adrenal gland	GARD:0005751|NCIT:C9338|SCTID:127021009|DOID:3953|ICD9:194.0|ICD9:239.7|MESH:D000310	mondo.json	malignant tumor of the adrenal gland|malignant tumor of adrenal gland|adrenal cancer|cancer of adrenal gland|tumor of the adrenal gland|adrenal neoplasm|adrenal gland cancer|malignant neoplasm of the adrenal gland|malignant adrenal gland neoplasm|malignant adrenal neoplasm|malignant neoplasm of adrenal gland|malignant adrenal gland tumor|malignant adrenal tumor	http://purl.obolibrary.org/obo/MONDO_0002817	http://identifiers.org/snomedct/127021009|http://identifiers.org/mesh/D000310|NCIT:C9338|DOID:3953	gard_rare
HP:0011843	biolink:PhenotypicFeature	Abnormality of musculoskeletal physiology	An abnormality of the function of the skeletal system.	UMLS:C4023164	mondo.json		http://purl.obolibrary.org/obo/HP_0011843		
GO:0002718	biolink:NamedThing	regulation of cytokine production involved in immune response	Any process that modulates the frequency, rate, or extent of cytokine production that contributes to an immune response.		mondo.json	regulation of cytokine biosynthetic process involved in immune response|regulation of cytokine secretion involved in immune response|regulation of cytokine production during immune response	http://purl.obolibrary.org/obo/GO_0002718		
MONDO:0002818	biolink:Disease	obsolete adrenal cortical adenocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002818		
HP:0011844	biolink:PhenotypicFeature	Abnormal appendicular skeleton morphology	An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles.	UMLS:C4023163	mondo.json		http://purl.obolibrary.org/obo/HP_0011844		
NCBITaxon:194441	biolink:OrganismalEntity	Primate T-lymphotropic virus 2		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_194441		
NCBITaxon:194440	biolink:OrganismalEntity	Primate T-lymphotropic virus 1		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_194440		
GO:0002719	biolink:NamedThing	negative regulation of cytokine production involved in immune response	Any process that stops, prevents, or reduces the frequency, rate, or extent of cytokine production contributing to an immune response.		mondo.json	negative regulation of cytokine production during immune response|inhibition of cytokine production during immune response|negative regulation of cytokine secretion involved in immune response|downregulation of cytokine production during immune response|down-regulation of cytokine production during immune response|negative regulation of cytokine biosynthetic process involved in immune response|down regulation of cytokine production during immune response	http://purl.obolibrary.org/obo/GO_0002719		
MONDO:0002819	biolink:Disease	obsolete Loeffler endocarditis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002819		
HGNC:8980	biolink:NamedThing	PIK3R2			mondo.json		http://identifiers.org/hgnc/8980		
MONDO:0002813	biolink:Disease	lipomatous cancer	A malignant mesenchymal neoplasm arising from adipocytes.	NCIT:C4501|ICD9:171.9|UMLS:C0346117|DOID:3939|SCTID:254828009	mondo.json	malignant neoplasm of adipose tissue|adipose tissue cancer|malignant adipose tissue tumor|malignant tumor of adipose tissue|malignant neoplasm of the adipose tissue|malignant lipomatous neoplasm|malignant adipose tissue neoplasm|malignant lipomatous tumor|cancer of adipose tissue|malignant tumor of the adipose tissue	http://purl.obolibrary.org/obo/MONDO_0002813	UMLS:C0346117|NCIT:C4501|http://identifiers.org/snomedct/254828009	
GO:0002713	biolink:NamedThing	negative regulation of B cell mediated immunity	Any process that stops, prevents, or reduces the frequency, rate, or extent of B cell mediated immunity.		mondo.json	negative regulation of B-lymphocyte mediated immunity|downregulation of B cell mediated immunity|down regulation of B cell mediated immunity|inhibition of B cell mediated immunity|down-regulation of B cell mediated immunity|negative regulation of B-cell mediated immunity|negative regulation of B lymphocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002713		
GO:0002714	biolink:NamedThing	positive regulation of B cell mediated immunity	Any process that activates or increases the frequency, rate, or extent of B cell mediated immunity.		mondo.json	positive regulation of B-cell mediated immunity|stimulation of B cell mediated immunity|positive regulation of B lymphocyte mediated immunity|up-regulation of B cell mediated immunity|activation of B cell mediated immunity|positive regulation of B-lymphocyte mediated immunity|upregulation of B cell mediated immunity|up regulation of B cell mediated immunity	http://purl.obolibrary.org/obo/GO_0002714		
MONDO:0002814	biolink:Disease	adrenal carcinoma	A carcinoma involving a adrenal gland.	SCTID:255035007|DOID:3950	mondo.json	carcinoma of adrenal gland|carcinoma of the adrenal gland|adrenal gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0002814	DOID:3950	
MONDO:0002815	biolink:Disease	acute myocarditis	The sudden onset of inflammation of heart muscle with myocellular necrosis; this is generally secondary to an infectious cause, and patients often have a recent history of a flu-like illness.	UMLS:C0155686|SCTID:46701001|ICD9:422|DOID:3951|ICD9:422.90|NCIT:C35206|ICD9:422.99	mondo.json	myocarditis, acute	http://purl.obolibrary.org/obo/MONDO_0002815	NCIT:C35206|http://identifiers.org/snomedct/46701001|DOID:3951|UMLS:C0155686	
HP:0011849	biolink:PhenotypicFeature	Abnormal bone ossification	Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.	UMLS:C4280317|MP:0008271|UMLS:C4023161	mondo.json	Abnormal bone maturation	http://purl.obolibrary.org/obo/HP_0011849		
GO:0002715	biolink:NamedThing	regulation of natural killer cell mediated immunity	Any process that modulates the frequency, rate, or extent of natural killer cell mediated immunity.		mondo.json	regulation of NK cell mediated immunity|regulation of natural killer cell activity	http://purl.obolibrary.org/obo/GO_0002715		
GO:0002716	biolink:NamedThing	negative regulation of natural killer cell mediated immunity	Any process that stops, prevents, or reduces the frequency, rate, or extent of natural killer cell mediated immunity.		mondo.json	negative regulation of NK cell mediated immunity|negative regulation of NK cell activity|down-regulation of natural killer cell mediated immunity|down regulation of natural killer cell mediated immunity|negative regulation of natural killer cell activity|inhibition of natural killer cell mediated immunity|downregulation of natural killer cell mediated immunity	http://purl.obolibrary.org/obo/GO_0002716		
MONDO:0002816	biolink:Disease	adrenal cortex disorder	A disease involving the adrenal cortex.	SCTID:129636003|DOID:3952|UMLS:C0001614|MESH:D000303	mondo.json	adrenal cortex disease or disorder|disorder of adrenal cortex|disease of adrenal cortex|disease or disorder of adrenal cortex|adrenal cortex disease	http://purl.obolibrary.org/obo/MONDO_0002816	UMLS:C0001614|http://identifiers.org/snomedct/129636003|http://identifiers.org/mesh/D000303|DOID:3952	
HGNC:8983	biolink:NamedThing	PI4KA			mondo.json		http://identifiers.org/hgnc/8983		
GO:0097014	biolink:NamedThing	ciliary plasm	All of the contents of a cilium, excluding the plasma membrane surrounding the cilium.		mondo.json	cilium plasm|microtubule-based flagellar cytoplasm|cilial cytoplasm|microtubule-based flagellar matrix|cilium cytoplasm|microtubule-based flagellum cytoplasm|microtubule-based flagellum matrix|ciliary cytoplasm	http://purl.obolibrary.org/obo/GO_0097014		
HP:0011830	biolink:PhenotypicFeature	Abnormal oral mucosa morphology	Abnormality of the oral mucosa.	UMLS:C4023170	mondo.json	Abnormality of oral mucous membrane|Abnormality of lining of mouth|Abnormality of mucosa of mouth|Abnormality of oral mucosa	http://purl.obolibrary.org/obo/HP_0011830		hposlim_core
HGNC:25186	biolink:NamedThing	TMEM240			mondo.json		http://identifiers.org/hgnc/25186		
UBERON:2001950	biolink:AnatomicalEntity	inter-premaxillary joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_2001950		
HGNC:8996	biolink:NamedThing	PIP5K1C			mondo.json		http://identifiers.org/hgnc/8996		
GO:1903296	biolink:NamedThing	positive regulation of glutamate secretion, neurotransmission	Any process that activates or increases the frequency, rate or extent of glutamate secretion, where glutamate acts as a neurotransmitter.		mondo.json	activation of glutamate secretion, neurotransmission|upregulation of glutamate secretion, neurotransmission|up regulation of glutamate secretion, neurotransmission|up-regulation of glutamate secretion, neurotransmission	http://purl.obolibrary.org/obo/GO_1903296		
UBERON:0011645	biolink:AnatomicalEntity	iliofemoralis muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011645		
HGNC:8999	biolink:NamedThing	PISD			mondo.json		http://identifiers.org/hgnc/8999		
GO:1903295	biolink:NamedThing	negative regulation of glutamate secretion, neurotransmission	Any process that stops, prevents or reduces the frequency, rate or extent of glutamate secretion, neurotransmission.		mondo.json	down regulation of glutamate secretion, neurotransmission|inhibition of glutamate secretion, neurotransmission|down-regulation of glutamate secretion, neurotransmission|downregulation of glutamate secretion, neurotransmission	http://purl.obolibrary.org/obo/GO_1903295		
GO:1903294	biolink:NamedThing	regulation of glutamate secretion, neurotransmission	Any process that modulates the frequency, rate or extent of glutamate secretion, neurotransmission.		mondo.json		http://purl.obolibrary.org/obo/GO_1903294		
HGNC:6338	biolink:NamedThing	KIR3DL1			mondo.json		http://identifiers.org/hgnc/6338		
UBERON:0011648	biolink:AnatomicalEntity	jaw muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011648		
UBERON:0008000	biolink:AnatomicalEntity	sesamoid bone of pes			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008000		
UBERON:0008001	biolink:AnatomicalEntity	irregular bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008001		
MONDO:0002800	biolink:Disease	thrombophlebitis	Inflammation of the veins associated with the presence of a thrombus.	ICD9:451.0|NCIT:C3410|MESH:D013924|DOID:3875|SCTID:40283005|ICD9:451.2|UMLS:C0040046|ICD10CM:I80.0	mondo.json	phlebitis and thrombophlebitis of superficial vessels of lower extremities|thrombophlebitis of a superficial leg vein|superficial thrombophlebitis of leg|thrombophlebitis of superficial veins of lower extremity	http://purl.obolibrary.org/obo/MONDO_0002800	NCIT:C3410|http://purl.bioontology.org/ontology/ICD10CM/I80.0|http://identifiers.org/snomedct/40283005|UMLS:C0040046|http://identifiers.org/mesh/D013924|DOID:3875	
MONDO:0002801	biolink:Disease	colonic pseudo-obstruction	Functional obstruction of the colon leading to megacolon in the absence of obvious colonic diseases or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome.	MESH:D003112|SCTID:35065006|UMLS:C0009377|DOID:3876|EFO:1000871|ICD9:564.89|GARD:0007248	mondo.json	acute colonic ileus|primary chronic pseudo-obstruction of colon|ACPO|Ogilvie's syndrome|acute colonic pseudo-obstruction	http://purl.obolibrary.org/obo/MONDO_0002801	http://identifiers.org/snomedct/35065006|http://identifiers.org/mesh/D003112|UMLS:C0009377|DOID:3876	gard_rare
HGNC:25198	biolink:NamedThing	SLC25A46			mondo.json		http://identifiers.org/hgnc/25198		
UBERON:0011642	biolink:AnatomicalEntity	oral epithelium from ectoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011642		
HGNC:6345	biolink:NamedThing	KLF1			mondo.json		http://identifiers.org/hgnc/6345		
HP:0011821	biolink:PhenotypicFeature	Abnormal facial skeleton morphology	An abnormality of one or more of the set of bones that make up the facial skeleton.	SNOMEDCT_US:433096001|UMLS:C2315229	mondo.json	Anomaly of facial bones|Deformity of facial skeleton|Malformation of facial skeleton|Anomaly of facial skeleton|Malformation of facial bones|Deformity of the facial bones|Abnormality of facial skeleton|Abnormality of facial bones	http://purl.obolibrary.org/obo/HP_0011821		
HGNC:6341	biolink:NamedThing	KISS1			mondo.json		http://identifiers.org/hgnc/6341		
GO:0097028	biolink:NamedThing	dendritic cell differentiation	The process in which a precursor cell type acquires the specialized features of a dendritic cell. A dendritic cell is a leukocyte of dendritic lineage specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation.		mondo.json		http://purl.obolibrary.org/obo/GO_0097028		
HGNC:6342	biolink:NamedThing	KIT			mondo.json		http://identifiers.org/hgnc/6342		
HGNC:6343	biolink:NamedThing	KITLG			mondo.json		http://identifiers.org/hgnc/6343		
GO:0000041	biolink:NamedThing	transition metal ion transport	The directed movement of transition metal ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver.		mondo.json	transition metal transport	http://purl.obolibrary.org/obo/GO_0000041		
HGNC:25280	biolink:NamedThing	ODAD4			mondo.json		http://identifiers.org/hgnc/25280		
HGNC:37276	biolink:NamedThing	CRPPA			mondo.json		http://identifiers.org/hgnc/37276		
SO:0000831	biolink:SequenceFeature	gene_member_region	A region of a gene.		mondo.json	gene member region	http://purl.obolibrary.org/obo/SO_0000831		
CHEBI:145795	biolink:ChemicalSubstance	digoxin(1-)	An organic anion that is the conjugate base of digoxin resulting from the deprotonation of furanone moiety; major species at pH 7.3.		mondo.json	digoxin anion|12beta,14-dihydroxy-17beta-(5-oxo-2,5-dihydrofuran-2-id-3-yl)-5beta,14beta-androstan-3beta-yl 2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranoside|digoxin	http://purl.obolibrary.org/obo/CHEBI_145795		
GO:0051641	biolink:NamedThing	cellular localization	A cellular localization process whereby a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a cell including the localization of substances or cellular entities to the cell membrane.		mondo.json	intracellular localization|cellular localisation|localization within cell|establishment and maintenance of cellular localization|establishment and maintenance of localization in cell or cell membrane|single-organism cellular localization|single organism cellular localization	http://purl.obolibrary.org/obo/GO_0051641		
GO:0051648	biolink:NamedThing	vesicle localization	Any process in which a vesicle or vesicles are transported to, and/or maintained in, a specific location.		mondo.json	cytoplasmic vesicle localization|vesicle localisation|establishment and maintenance of vesicle localization	http://purl.obolibrary.org/obo/GO_0051648		
GO:0051649	biolink:NamedThing	establishment of localization in cell	Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation.		mondo.json	establishment of cellular localization|establishment of intracellular localization|positioning within cell|establishment of localization within cell|establishment of localisation in cell	http://purl.obolibrary.org/obo/GO_0051649		
GO:0000050	biolink:NamedThing	urea cycle	The sequence of reactions by which arginine is synthesized from ornithine, then cleaved to yield urea and regenerate ornithine. The overall reaction equation is NH3 + CO2 + aspartate + 3 ATP + 2 H2O = urea + fumarate + 2 ADP + 2 phosphate + AMP + diphosphate.		mondo.json	ornithine cycle|urea biosynthesis|urea biosynthetic process	http://purl.obolibrary.org/obo/GO_0000050		
GO:0051640	biolink:NamedThing	organelle localization	Any process in which an organelle is transported to, and/or maintained in, a specific location.		mondo.json	establishment and maintenance of organelle localization|organelle localisation	http://purl.obolibrary.org/obo/GO_0051640		
NCBITaxon:216275	biolink:OrganismalEntity	Vetigastropoda		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_216275		
GO:0002687	biolink:NamedThing	positive regulation of leukocyte migration	Any process that activates or increases the frequency, rate, or extent of leukocyte migration.		mondo.json	positive regulation of immune cell migration|positive regulation of leucocyte migration|up-regulation of leukocyte migration|up regulation of leukocyte migration|activation of leukocyte migration|stimulation of leukocyte migration|upregulation of leukocyte migration	http://purl.obolibrary.org/obo/GO_0002687		
GO:0002688	biolink:NamedThing	regulation of leukocyte chemotaxis	Any process that modulates the frequency, rate, or extent of leukocyte chemotaxis.		mondo.json	regulation of immune cell chemotaxis|regulation of leucocyte chemotaxis	http://purl.obolibrary.org/obo/GO_0002688		
ENVO:01001788	biolink:NamedThing	marine ecosystem			mondo.json		http://purl.obolibrary.org/obo/ENVO_01001788		
GO:0002689	biolink:NamedThing	negative regulation of leukocyte chemotaxis	Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte chemotaxis.		mondo.json	negative regulation of immune cell chemotaxis|negative regulation of leucocyte chemotaxis|downregulation of leukocyte chemotaxis|down regulation of leukocyte chemotaxis|inhibition of leukocyte chemotaxis|down-regulation of leukocyte chemotaxis	http://purl.obolibrary.org/obo/GO_0002689		
HGNC:13281	biolink:NamedThing	ESPN			mondo.json		http://identifiers.org/hgnc/13281		
ENVO:01001785	biolink:NamedThing	land	A surface layer of an astronomical body which is primarily composed of solid material and is not covered by oceans or other bodies of water.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001785		
GO:0002683	biolink:NamedThing	negative regulation of immune system process	Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune system process.		mondo.json	down-regulation of immune system process|down regulation of immune system process|downregulation of immune system process|inhibition of immune system process	http://purl.obolibrary.org/obo/GO_0002683		
GO:0002684	biolink:NamedThing	positive regulation of immune system process	Any process that activates or increases the frequency, rate, or extent of an immune system process.		mondo.json	activation of immune system process|stimulation of immune system process|upregulation of immune system process|up-regulation of immune system process|up regulation of immune system process	http://purl.obolibrary.org/obo/GO_0002684		
ENVO:01001784	biolink:NamedThing	compound astronomical body part	A part of an astronomical body which is primarily composed of a continuous medium bearing liquid, gaseous, and solid material in varying quantities.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001784		
GO:0051656	biolink:NamedThing	establishment of organelle localization	The directed movement of an organelle to a specific location.		mondo.json	establishment of organelle localisation	http://purl.obolibrary.org/obo/GO_0051656		
GO:0002685	biolink:NamedThing	regulation of leukocyte migration	Any process that modulates the frequency, rate, or extent of leukocyte migration.		mondo.json	regulation of immune cell migration|regulation of leucocyte migration	http://purl.obolibrary.org/obo/GO_0002685		
ENVO:01001787	biolink:NamedThing	aquatic ecosystem			mondo.json		http://purl.obolibrary.org/obo/ENVO_01001787		
GO:0002686	biolink:NamedThing	negative regulation of leukocyte migration	Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte migration.		mondo.json	inhibition of leukocyte migration|downregulation of leukocyte migration|negative regulation of immune cell migration|negative regulation of leucocyte migration|down-regulation of leukocyte migration|down regulation of leukocyte migration	http://purl.obolibrary.org/obo/GO_0002686		
GO:0002682	biolink:NamedThing	regulation of immune system process	Any process that modulates the frequency, rate, or extent of an immune system process.		mondo.json		http://purl.obolibrary.org/obo/GO_0002682		
GO:1905821	biolink:NamedThing	positive regulation of chromosome condensation	Any process that activates or increases the frequency, rate or extent of chromosome condensation.		mondo.json	up regulation of eukaryotic chromosome condensation|upregulation of chromosome condensation|up-regulation of eukaryotic chromosome condensation|up-regulation of nuclear chromosome condensation|activation of eukaryotic chromosome condensation|up regulation of nuclear chromosome condensation|activation of nuclear chromosome condensation|positive regulation of nuclear chromosome condensation|up-regulation of chromosome condensation|upregulation of eukaryotic chromosome condensation|up regulation of chromosome condensation|upregulation of nuclear chromosome condensation|activation of chromosome condensation|positive regulation of eukaryotic chromosome condensation	http://purl.obolibrary.org/obo/GO_1905821		
ENVO:01001781	biolink:NamedThing	part of a landmass	A solid astronomical body part which is part of the landmass of that body.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001781		
ENVO:01001780	biolink:NamedThing	desert ecosystem	An ecosystem in which the composition, structure, and function of resident ecological assemblages are primarily determined by a desert.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001780		
ENVO:01001782	biolink:NamedThing	landmass	A large continuous area of land, either surrounded by sea or contiguous with another landmass.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001782		
GO:0051650	biolink:NamedThing	establishment of vesicle localization	The directed movement of a vesicle to a specific location.		mondo.json	establishment of vesicle localisation	http://purl.obolibrary.org/obo/GO_0051650		
GO:0002698	biolink:NamedThing	negative regulation of immune effector process	Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune effector process.		mondo.json	down-regulation of immune effector process|down regulation of immune effector process|inhibition of immune effector process|downregulation of immune effector process	http://purl.obolibrary.org/obo/GO_0002698		
MONDO:0024299	biolink:Disease	vitamin D-dependent rickets		SCTID:68295002|UMLS:C0221468	mondo.json	VDDR	http://purl.obolibrary.org/obo/MONDO_0024299	http://identifiers.org/snomedct/68295002|UMLS:C0221468	
GO:0002699	biolink:NamedThing	positive regulation of immune effector process	Any process that activates or increases the frequency, rate, or extent of an immune effector process.		mondo.json	upregulation of immune effector process|up-regulation of immune effector process|up regulation of immune effector process|activation of immune effector process|stimulation of immune effector process	http://purl.obolibrary.org/obo/GO_0002699		
GO:0002694	biolink:NamedThing	regulation of leukocyte activation	Any process that modulates the frequency, rate, or extent of leukocyte activation.		mondo.json	regulation of leucocyte activation|regulation of immune cell activation	http://purl.obolibrary.org/obo/GO_0002694		
GO:0002695	biolink:NamedThing	negative regulation of leukocyte activation	Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte activation.		mondo.json	down regulation of leukocyte activation|inhibition of leukocyte activation|down-regulation of leukocyte activation|negative regulation of leucocyte activation|negative regulation of immune cell activation|downregulation of leukocyte activation	http://purl.obolibrary.org/obo/GO_0002695		
GO:0002696	biolink:NamedThing	positive regulation of leukocyte activation	Any process that activates or increases the frequency, rate, or extent of leukocyte activation.		mondo.json	positive regulation of immune cell activation|positive regulation of leucocyte activation|upregulation of leukocyte activation|up regulation of leukocyte activation|stimulation of leukocyte activation|up-regulation of leukocyte activation|activation of leukocyte activation	http://purl.obolibrary.org/obo/GO_0002696		
NCIT:C77140	biolink:NamedThing	Clinical Test Result			mondo.json		http://purl.obolibrary.org/obo/NCIT_C77140		
GO:0051668	biolink:NamedThing	localization within membrane	Any process in which a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a membrane.		mondo.json	positioning within membrane|localization to membrane|establishment and maintenance of localization in membrane|establishment and maintenance of position in membrane|localisation within membrane	http://purl.obolibrary.org/obo/GO_0051668		
GO:0002697	biolink:NamedThing	regulation of immune effector process	Any process that modulates the frequency, rate, or extent of an immune effector process.		mondo.json		http://purl.obolibrary.org/obo/GO_0002697		
GO:0002690	biolink:NamedThing	positive regulation of leukocyte chemotaxis	Any process that activates or increases the frequency, rate, or extent of leukocyte chemotaxis.		mondo.json	positive regulation of leucocyte chemotaxis|positive regulation of immune cell chemotaxis|upregulation of leukocyte chemotaxis|up regulation of leukocyte chemotaxis|stimulation of leukocyte chemotaxis|up-regulation of leukocyte chemotaxis|activation of leukocyte chemotaxis	http://purl.obolibrary.org/obo/GO_0002690		
MONDO:0024292	biolink:Disease	gastrointestinal polyp	A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps.	NCIT:C35516|UMLS:C0744333	mondo.json	gastrointestinal tract polyp|GI polyp|gastrointestinal polyp	http://purl.obolibrary.org/obo/MONDO_0024292	UMLS:C0744333|NCIT:C35516	
MONDO:0024291	biolink:Disease	vascular malformation	A non-neoplastic disorder that is the result of defects of vascular morphogenesis.	MESH:D054079	mondo.json	malformations, vascular|malformation, vascular|vascular malformation	http://purl.obolibrary.org/obo/MONDO_0024291	http://identifiers.org/mesh/D054079	
MONDO:0024294	biolink:Disease	skin disorder caused by infection	Skin diseases caused by bacteria, fungi, parasites, or viruses.	MESH:D012874	mondo.json	diseases, infectious skin|skin disease, infectious|disease, infectious skin|infectious skin diseases|infectious skin disease	http://purl.obolibrary.org/obo/MONDO_0024294	http://identifiers.org/mesh/D012874	
MONDO:0024293	biolink:Disease	obsolete polyposis, gastric, Dos Santos and de Magalhaes 1980		OMIM:175020	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024293	https://omim.org/entry/175020	
GO:0048018	biolink:NamedThing	receptor ligand activity	The activity of a gene product that interacts with a receptor to effect a change in the activity of the receptor. Ligands may be produced by the same, or different, cell that expresses the receptor. Ligands may diffuse extracellularly from their point of origin to the receiving cell, or remain attached to an adjacent cell surface (e.g. Notch ligands).		mondo.json	signaling molecule|vitamin D receptor activator activity|signaling receptor ligand activity|receptor agonist activity	http://purl.obolibrary.org/obo/GO_0048018		
MONDO:0024296	biolink:Disease	vascular neoplasm	A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells.	NCIT:C7388	mondo.json	vascular neoplasms|vascular system neoplasm|tumors, vascular|tumor of vascular tissue|tumor of vascular system|vascular system neoplasm (disease)|vascular tissue neoplasm|vascular neoplasm|neoplasms, vascular|vascular tumor|neoplasm of vascular tissue|vascular tumors|vascular tissue tumor|neoplasm of vascular system|vascular system tumor	http://purl.obolibrary.org/obo/MONDO_0024296	NCIT:C7388	
MONDO:0024295	biolink:Disease	skin disease caused by bacterial infection	Skin diseases caused by bacteria.	MESH:D017192	mondo.json	skin disease, bacterial|disease, bacterial skin|bacterial skin disease|diseases, bacterial skin|bacterial skin diseases|Bacteria skin disease caused by infection|Bacteria caused skin disease caused by infection	http://purl.obolibrary.org/obo/MONDO_0024295	http://identifiers.org/mesh/D017192	
MONDO:0024298	biolink:Disease	vitamin deficiency disorder	A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency.	UMLS:C1510471|SCTID:85670002|ICD9:269.1|EFO:0005878|ICD9:269.2|NCIT:C35772|UMLS:C0376286|MESH:D001361	mondo.json	Avitaminoses|avitaminosis|vitamin deficiency disorder|deficiencies, vitamin|vitamin deficiency|vitamin deficiencies|deficiency, vitamin	http://purl.obolibrary.org/obo/MONDO_0024298	UMLS:C1510471|UMLS:C0376286|http://identifiers.org/mesh/D001361|NCIT:C35772|http://identifiers.org/snomedct/85670002	
MONDO:0024297	biolink:Disease	obsolete nutritional or metabolic disease	OBSOLETE. A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances.	MESH:D009750|ICD10CM:E00-E90|UMLS:C0028715	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024297	UMLS:C0028715|http://identifiers.org/mesh/D009750|http://purl.bioontology.org/ontology/ICD10CM/E00-E90	
MONDO:0024290	biolink:Disease	enuresis	An elimination disorder characterized by urinary incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs at or beyond an age at which continence is expected (usually 5 years).	NCIT:C34588|MESH:D004775|UMLS:C0014394	mondo.json	enuresis	http://purl.obolibrary.org/obo/MONDO_0024290	http://identifiers.org/mesh/D004775|UMLS:C0014394|NCIT:C34588	
GO:0000002	biolink:NamedThing	mitochondrial genome maintenance	The maintenance of the structure and integrity of the mitochondrial genome; includes replication and segregation of the mitochondrial chromosome.		mondo.json		http://purl.obolibrary.org/obo/GO_0000002		
GO:0051674	biolink:NamedThing	localization of cell	Any process in which a cell is transported to, and/or maintained in, a specific location.		mondo.json	establishment and maintenance of localization of cell|establishment and maintenance of cell localization|localisation of cell|cell localization	http://purl.obolibrary.org/obo/GO_0051674		
GO:0000003	biolink:NamedThing	reproduction	The production of new individuals that contain some portion of genetic material inherited from one or more parent organisms.		mondo.json	reproductive physiological process	http://purl.obolibrary.org/obo/GO_0000003		
HGNC:25240	biolink:NamedThing	ANO6			mondo.json		http://identifiers.org/hgnc/25240		
GO:0002660	biolink:NamedThing	positive regulation of peripheral tolerance induction	Any process that activates or increases the frequency, rate, or extent of peripheral tolerance induction.		mondo.json	stimulation of peripheral tolerance induction|up regulation of peripheral tolerance induction|activation of peripheral tolerance induction|up-regulation of peripheral tolerance induction|upregulation of peripheral tolerance induction	http://purl.obolibrary.org/obo/GO_0002660		
HGNC:25244	biolink:NamedThing	CCDC39			mondo.json		http://identifiers.org/hgnc/25244		
GO:0061007	biolink:NamedThing	hepaticobiliary system process	An system process carried out by any of the organs or tissues of the hepaticobiliary system. The hepaticobiliary system is responsible for metabolic and catabolic processing of small molecules absorbed from the blood or gut, hormones and serum proteins, detoxification, storage of glycogen, triglycerides, metals and lipid soluble vitamins and excretion of bile. Included are the synthesis of albumin, blood coagulation factors, complement, and specific binding proteins.		mondo.json	hepatobiliary system process	http://purl.obolibrary.org/obo/GO_0061007		
HGNC:37234	biolink:NamedThing	TMEM231			mondo.json		http://identifiers.org/hgnc/37234		
GO:0002673	biolink:NamedThing	regulation of acute inflammatory response	Any process that modulates the frequency, rate, or extent of an acute inflammatory response.		mondo.json		http://purl.obolibrary.org/obo/GO_0002673		
GO:0002674	biolink:NamedThing	negative regulation of acute inflammatory response	Any process that stops, prevents, or reduces the frequency, rate, or extent of an acute inflammatory response.		mondo.json	inhibition of acute inflammatory response|downregulation of acute inflammatory response|down-regulation of acute inflammatory response|down regulation of acute inflammatory response	http://purl.obolibrary.org/obo/GO_0002674		
GO:0002675	biolink:NamedThing	positive regulation of acute inflammatory response	Any process that activates or increases the frequency, rate, or extent of an acute inflammatory response.		mondo.json	up-regulation of acute inflammatory response|up regulation of acute inflammatory response|activation of acute inflammatory response|stimulation of acute inflammatory response|upregulation of acute inflammatory response	http://purl.obolibrary.org/obo/GO_0002675		
HGNC:37227	biolink:NamedThing	KBTBD13			mondo.json		http://identifiers.org/hgnc/37227		
CHEBI:51374	biolink:ChemicalSubstance	GABA agent	A substance, such as agonists, antagonists, degradation or uptake inhibitors, depleters, precursors, and modulators of receptor function, used for its pharmacological actions on GABAergic systems.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_51374		
GO:0000018	biolink:NamedThing	regulation of DNA recombination	Any process that modulates the frequency, rate or extent of DNA recombination, a DNA metabolic process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents.		mondo.json		http://purl.obolibrary.org/obo/GO_0000018		
HGNC:13273	biolink:NamedThing	DUOX2			mondo.json		http://identifiers.org/hgnc/13273		
GO:0002643	biolink:NamedThing	regulation of tolerance induction	Any process that modulates the frequency, rate, or extent of tolerance induction.		mondo.json		http://purl.obolibrary.org/obo/GO_0002643		
GO:0002644	biolink:NamedThing	negative regulation of tolerance induction	Any process that stops, prevents, or reduces the frequency, rate, or extent of tolerance induction.		mondo.json	inhibition of tolerance induction|downregulation of tolerance induction|down-regulation of tolerance induction|down regulation of tolerance induction	http://purl.obolibrary.org/obo/GO_0002644		
ENVO:01001747	biolink:NamedThing	mass fluid flow			mondo.json		http://purl.obolibrary.org/obo/ENVO_01001747		
GO:0002645	biolink:NamedThing	positive regulation of tolerance induction	Any process that activates or increases the frequency, rate, or extent of tolerance induction.		mondo.json	up-regulation of tolerance induction|up regulation of tolerance induction|activation of tolerance induction|stimulation of tolerance induction|upregulation of tolerance induction	http://purl.obolibrary.org/obo/GO_0002645		
HGNC:8907	biolink:NamedThing	PGM3			mondo.json		http://identifiers.org/hgnc/8907		
HGNC:25223	biolink:NamedThing	COQ2			mondo.json		http://identifiers.org/hgnc/25223		
HGNC:25221	biolink:NamedThing	MMADHC			mondo.json		http://identifiers.org/hgnc/25221		
GO:0061024	biolink:NamedThing	membrane organization	A process which results in the assembly, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins.		mondo.json	cellular membrane organisation|cellular membrane organization|membrane organisation|membrane organization and biogenesis|single-organism membrane organization	http://purl.obolibrary.org/obo/GO_0061024		
GO:0061025	biolink:NamedThing	membrane fusion	The membrane organization process that joins two lipid bilayers to form a single membrane.		mondo.json	cellular membrane fusion|single-organism membrane fusion	http://purl.obolibrary.org/obo/GO_0061025		
HGNC:8910	biolink:NamedThing	PGR			mondo.json		http://identifiers.org/hgnc/8910		
HGNC:8912	biolink:NamedThing	PHB			mondo.json		http://identifiers.org/hgnc/8912		
HGNC:13243	biolink:NamedThing	LMBR1			mondo.json		http://identifiers.org/hgnc/13243		
HGNC:37212	biolink:NamedThing	KLLN			mondo.json		http://identifiers.org/hgnc/37212		
GO:0002654	biolink:NamedThing	positive regulation of tolerance induction dependent upon immune response	Any process that activates or increases the frequency, rate, or extent of tolerance induction dependent upon immune response.		mondo.json	positive regulation of immune response-dependent tolerance induction|up regulation of tolerance induction dependent upon immune response|stimulation of tolerance induction dependent upon immune response|activation of tolerance induction dependent upon immune response|up-regulation of tolerance induction dependent upon immune response|upregulation of tolerance induction dependent upon immune response	http://purl.obolibrary.org/obo/GO_0002654		
CHEBI:51356	biolink:ChemicalSubstance	penicillinate anion	Any anion formed by loss of a proton from the carboxy group of a penicillin.		mondo.json	penicillin anions|penicillin|penicillin anion	http://purl.obolibrary.org/obo/CHEBI_51356		
GO:0002652	biolink:NamedThing	regulation of tolerance induction dependent upon immune response	Any process that modulates the frequency, rate, or extent of tolerance induction dependent upon immune response.		mondo.json	regulation of immune response-dependent tolerance induction	http://purl.obolibrary.org/obo/GO_0002652		
GO:0002653	biolink:NamedThing	negative regulation of tolerance induction dependent upon immune response	Any process that stops, prevents, or reduces the frequency, rate, or extent of tolerance induction dependent upon immune response.		mondo.json	downregulation of tolerance induction dependent upon immune response|negative regulation of immune response-dependent tolerance induction|down regulation of tolerance induction dependent upon immune response|inhibition of tolerance induction dependent upon immune response|down-regulation of tolerance induction dependent upon immune response	http://purl.obolibrary.org/obo/GO_0002653		
HGNC:25230	biolink:NamedThing	AHDC1			mondo.json		http://identifiers.org/hgnc/25230		
HGNC:8918	biolink:NamedThing	PHEX			mondo.json		http://identifiers.org/hgnc/8918		
GO:1905880	biolink:NamedThing	negative regulation of oogenesis	Any process that stops, prevents or reduces the frequency, rate or extent of oogenesis.		mondo.json	down regulation of ovum development|down-regulation of oogenesis|inhibition of ovum development|down-regulation of ovum development|negative regulation of ovum development|down regulation of oogenesis|inhibition of oogenesis|downregulation of oogenesis|downregulation of ovum development	http://purl.obolibrary.org/obo/GO_1905880		
GO:1905881	biolink:NamedThing	positive regulation of oogenesis	Any process that activates or increases the frequency, rate or extent of oogenesis.		mondo.json	activation of ovum development|activation of oogenesis|upregulation of oogenesis|upregulation of ovum development|positive regulation of ovum development|up-regulation of oogenesis|up regulation of ovum development|up regulation of oogenesis|up-regulation of ovum development	http://purl.obolibrary.org/obo/GO_1905881		
HGNC:8923	biolink:NamedThing	PHGDH			mondo.json		http://identifiers.org/hgnc/8923		
GO:1905879	biolink:NamedThing	regulation of oogenesis	Any process that modulates the frequency, rate or extent of oogenesis.		mondo.json	regulation of ovum development	http://purl.obolibrary.org/obo/GO_1905879		
HGNC:8926	biolink:NamedThing	PHKA2			mondo.json		http://identifiers.org/hgnc/8926		
HGNC:8925	biolink:NamedThing	PHKA1			mondo.json		http://identifiers.org/hgnc/8925		
HGNC:13254	biolink:NamedThing	FTSJ1			mondo.json		http://identifiers.org/hgnc/13254		
GO:0002658	biolink:NamedThing	regulation of peripheral tolerance induction	Any process that modulates the frequency, rate, or extent of peripheral tolerance induction.		mondo.json		http://purl.obolibrary.org/obo/GO_0002658		
GO:0002659	biolink:NamedThing	negative regulation of peripheral tolerance induction	Any process that stops, prevents, or reduces the frequency, rate, or extent of peripheral tolerance induction.		mondo.json	inhibition of peripheral tolerance induction|down-regulation of peripheral tolerance induction|downregulation of peripheral tolerance induction|down regulation of peripheral tolerance induction	http://purl.obolibrary.org/obo/GO_0002659		
GO:0099601	biolink:NamedThing	regulation of neurotransmitter receptor activity	Any process that modulates the frequency, rate or extent of neurotransmitter receptor activity. Modulation may be via an effect on ligand affinity, or effector funtion such as ion selectivity or pore opening/closing in ionotropic receptors.		mondo.json		http://purl.obolibrary.org/obo/GO_0099601		
GO:0099602	biolink:NamedThing	neurotransmitter receptor regulator activity	A molecular function that directly (via physical interaction or direct modification) activates, inhibits or otherwise modulates the activity of a neurotransmitter receptor. Modulation of activity includes changes in desensitization rate, ligand affinity, ion selectivity and pore-opening/closing.		mondo.json		http://purl.obolibrary.org/obo/GO_0099602		
MONDO:0024245	biolink:Disease	ductal eccrine adenocarcinoma		NCIT:C43345|SCTID:403939009|DOID:5570	mondo.json	sweat gland carcinoma of the hand|ductal eccrine carcinoma|ductal eccrine adenocarcinoma|eccrine ductal carcinoma of skin|eccrine ductal carcinoma|anaplastic syringoma|eccrine ductal carcinoma (morphologic abnormality)|hidradenocarcinoma|malignant acrospiroma|primary mucoepidermoid cutaneous carcinoma|malignant hidradenoma	http://purl.obolibrary.org/obo/MONDO_0024245	DOID:5570|NCIT:C43345|http://identifiers.org/snomedct/403939009	
MONDO:0000278	biolink:Disease	obsolete Bolivian hemorrhagic fever			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000278		
MONDO:0000277	biolink:Disease	obsolete Argentine hemorrhagic fever			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000277		
MONDO:0024247	biolink:Disease	benign eccrine neoplasm	A non-metastasizing eccrine appendage sweat gland neoplasm. Representative examples include hidrocystoma, syringoma, and syringofibroadenoma.	NCIT:C6797|UMLS:C1332493|SCTID:254715009	mondo.json	benign eccrine tumor of the skin|benign eccrine tumor|benign eccrine neoplasm of skin|benign eccrine skin tumor|benign eccrine neoplasm of the skin|benign eccrine skin neoplasm|eccrine sweat gland neoplasm, benign|benign eccrine neoplasm|benign eccrine sweat gland neoplasm|benign eccrine tumor of skin|benign skin tumor with eccrine differentiation	http://purl.obolibrary.org/obo/MONDO_0024247	http://identifiers.org/snomedct/254715009|UMLS:C1332493|NCIT:C6797	
MONDO:0000276	biolink:Disease	Powassan encephalitis	A disease caused by infection with Powassan virus.	SCTID:416707008|ICD9:063.8|DOID:0050179|UMLS:C0032858|UMLS:C1563215	mondo.json	Powassan virus infectious disease|Powassan virus caused disease or disorder|powassan encephalitis virus infection|Powassan virus disease or disorder|encephalitis, powassan	http://purl.obolibrary.org/obo/MONDO_0000276	UMLS:C0032858|DOID:0050179|UMLS:C1563215|http://identifiers.org/snomedct/416707008	
MONDO:0024246	biolink:Disease	syringofibroadenoma	A rare, benign eccrine neoplasm usually arising on acral areas as a solitary papular or nodular lesion. Multiple lesions are referred as syringofibroadenomatosis. It is characterized by the presence of epithelial cuboidal cells forming anastomosing cords in a fibrovascular stroma.	NCIT:C43356|HP:0031018|ICDO:8392/0|UMLS:C1266060|SCTID:403936002|UMLS:C0473578	mondo.json	acrosyringeal nevus|eccrine syringofibroadenoma|eccrine syringofibroadenomatous hyperplasia|syringofibroadenoma|eccrine syringofibroadenoma of skin|acrosyringeal adenomatosis	http://purl.obolibrary.org/obo/MONDO_0024246	UMLS:C1266060|http://identifiers.org/snomedct/403936002|NCIT:C43356	
MONDO:0000275	biolink:Disease	obsolete monogenic disease	OBSOLETE. A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele).	DOID:0050177	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000275	DOID:0050177	
MONDO:0024249	biolink:Disease	pityriasis lichenoides	A rare cutaneous disorder of unknown etiology that can present either as an acute condition, with multiple papular lesions which become vesicular and necrotic (pityriasis lichenoides et varioliformis acuta) or chronic, with small, scaling papules (pityriasis lichenoides chronica).	NCIT:C85013|MESH:D017514|GARD:0010265|SCTID:200983001	mondo.json	chronic Pityriasis Lichenoides|Pityriasis Lichenoides, acute|Pityriasis Lichenoides|Pityriasis Lichenoides chronica|parapsoriasis en gouttes|pityriasis lichenoides|Pityriasis Lichenoides et Varioliformis Acuta|parapsoriasis guttata|Pityriasis Lichenoides, chronic|acute Pityriasis Lichenoides	http://purl.obolibrary.org/obo/MONDO_0024249	NCIT:C85013|http://identifiers.org/snomedct/200983001|http://identifiers.org/mesh/D017514	gard_rare
MONDO:0024248	biolink:Disease	obsolete pityriasis	OBSOLETE. A name originally applied to a group of skin diseases characterized by the formation of fine, branny scales, but now used only with a modifier. (Dorland, 27th ed)	ICD9:696.5|MESH:D010915|SCTID:34630004	mondo.json	Pityriases	http://purl.obolibrary.org/obo/MONDO_0024248	http://identifiers.org/snomedct/34630004|http://identifiers.org/mesh/D010915	
MONDO:0000279	biolink:Disease	obsolete Venezuelan hemorrhagic fever			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000279		
MONDO:0000270	biolink:Disease	lower respiratory tract disorder	A disease involving the lower respiratory tract.	SCTID:128272009|ICD9:478.1|ICD9:478.19|UMLS:C1290325|DOID:0050161	mondo.json	lower respiratory tract disease|disease or disorder of lower respiratory tract|disease of lower respiratory tract|lower respiratory tract disease or disorder|disorder of lower respiratory tract	http://purl.obolibrary.org/obo/MONDO_0000270	http://identifiers.org/snomedct/128272009|DOID:0050161|UMLS:C1290325	
MONDO:0000274	biolink:Disease	obsolete tick-borne encephalitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000274		
MONDO:0024240	biolink:Disease	eccrine carcinoma	An adenocarcinoma with eccrine differentiation arising from the sweat glands. It includes the following subtypes: ductal eccrine adenocarcinoma, papillary eccrine carcinoma, and eccrine porocarcinoma.	DOID:4920|UMLS:C1707878|UMLS:C1302864|NCIT:C27255|SCTID:400173004|UMLS:C1266066|ICDO:8413/3	mondo.json	eccrine carcinoma|carcinoma of eccrine sweat gland|eccrine sweat gland carcinoma|eccrine adenocarcinoma (morphologic abnormality)|eccrine carcinoma of skin|eccrine sweat gland adenocarcinoma|eccrine adenocarcinoma|carcinoma, eccrine gland, malignant	http://purl.obolibrary.org/obo/MONDO_0024240	UMLS:C1266066|http://identifiers.org/snomedct/400173004|UMLS:C1302864|DOID:4920|NCIT:C27255	
MONDO:0000273	biolink:Disease	Kunjin virus infectous disease	A West Nile encephalitis that results in infection located in brain, has material basis in Kunjin virus, a subtype of West Nile Virus, which is transmitted by Culex annulirostris mosquito bite. The infection has symptom fever, has symptom rigor, has symptom headache, has symptom confusion, and has symptom lethargy.	DOID:0050174	mondo.json	Kunjin encephalitis	http://purl.obolibrary.org/obo/MONDO_0000273	DOID:0050174	
CHEBI:63332	biolink:ChemicalSubstance	EC 3.1.3.1 (alkaline phosphatase) inhibitor	An EC 3.1.3.* (phosphoric monoester hydrolase) inhibitor that interferes with the action of alkaline phosphatase (EC 3.1.3.1).		mondo.json	alkaline phosphohydrolase inhibitor|glycerophosphatase inhibitors|alkaline phenyl phosphatase inhibitors|alkaline phosphatase (EC 3.1.3.1) inhibitor|alkaline phosphomonoesterase inhibitor|EC 3.1.3.1 inhibitors|orthophosphoric-monoester phosphohydrolase (alkaline optimum) inhibitors|phosphate-monoester phosphohydrolase (alkaline optimum) inhibitor|phosphomonoesterase inhibitors|alkaline phosphatase inhibitor|alkaline phosphatase inhibitors|phosphomonoesterase inhibitor|orthophosphoric-monoester phosphohydrolase (alkaline optimum) inhibitor|phosphate-monoester phosphohydrolase (alkaline optimum) inhibitors|alkaline phosphomonoesterase inhibitors|EC 3.1.3.1 inhibitor|alkaline phosphatase (EC 3.1.3.1) inhibitors|alkaline phenyl phosphatase inhibitor|EC 3.1.3.1 (alkaline phosphatase) inhibitors|glycerophosphatase inhibitor|alkaline phosphohydrolase inhibitors	http://purl.obolibrary.org/obo/CHEBI_63332		
MONDO:0000272	biolink:Disease	obsolete autoimmune polyendocrine syndrome type 2			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000272		
MONDO:0000271	biolink:Disease	tuberculous salpingitis	An urogenital tuberculosis involving a pathogenic inflammatory response in the fallopian tube.	ICD9:016.6|DOID:0050166|UMLS:C0275933|SCTID:49558004|ICD9:016.60	mondo.json	fallopian tube tuberculosis	http://purl.obolibrary.org/obo/MONDO_0000271	DOID:0050166|http://identifiers.org/snomedct/49558004|UMLS:C0275933	
MONDO:0012267	biolink:Disease	holoprosencephaly 8	A holoprosencephaly that has material basis in variation in the chromosome region 14q13.	OMIM:609408|UMLS:C1836254|DOID:0110879|MESH:C563723	mondo.json	HPE8|holoprosencephaly type 8|holoprosencephaly 8	http://purl.obolibrary.org/obo/MONDO_0012267	UMLS:C1836254|DOID:0110879|http://identifiers.org/mesh/C563723|https://omim.org/entry/609408	
MONDO:0012268	biolink:Disease	AIDS	A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood.	NCIT:C2851|SCTID:62479008|MESH:D000163|DOID:635|EFO:0000765	mondo.json	AIDS|acquired immunodeficiency syndrome|AIDS, acquired immunodeficiency syndrome|acquired immunodeficiency syndrome, AIDS|acquired immunodeficiency disease|acquired immune deficiency|acquired immune deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0012268	http://identifiers.org/mesh/D000163|NCIT:C2851|DOID:635|http://identifiers.org/snomedct/62479008	
MONDO:0012265	biolink:Disease	preeclampsia/eclampsia 3		OMIM:609403|UMLS:C1836256	mondo.json	PREECLAMPSIA/eclampsia 3|PEE3	http://purl.obolibrary.org/obo/MONDO_0012265	UMLS:C1836256|https://omim.org/entry/609403	
MONDO:0012266	biolink:Disease	preeclampsia/eclampsia 4	Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene.	OMIM:609404|MESH:C563724|UMLS:C1836255	mondo.json	preeclampsia caused by mutation in STOX1|Preeclampsia/eclampsia type 4|PREECLAMPSIA/eclampsia 4|preeclampsia/eclampsia 4|STOX1 preeclampsia|PEE4	http://purl.obolibrary.org/obo/MONDO_0012266	UMLS:C1836255|http://identifiers.org/mesh/C563724|https://omim.org/entry/609404	
MONDO:0012269	biolink:Disease	chromosome 3q29 microdeletion syndrome	3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.	OMIM:609425|SCTID:716456000|MESH:C567184|GARD:0011974|Orphanet:65286|UMLS:C2674949|DECIPHER:37|DOID:0060419	mondo.json	3qter deletion|monosomy 3qter|3q29 microdeletion syndrome|3q29 deletion|monosomy 3q29|chromosome 3q29 deletion syndrome|3q29 deletion syndrome|microdeletion 3Q29 syndrome|3q subtelomere deletion syndrome|Del(3)(q29)|chromosome 3q29 microdeletion syndrome, isolated cases	http://purl.obolibrary.org/obo/MONDO_0012269	http://identifiers.org/mesh/C567184|http://identifiers.org/snomedct/716456000|UMLS:C2674949|Orphanet:65286|DOID:0060419|https://omim.org/entry/609425	ordo_malformation_syndrome
HGNC:15889	biolink:NamedThing	FERMT1			mondo.json		http://identifiers.org/hgnc/15889		
HGNC:15888	biolink:NamedThing	RTEL1			mondo.json		http://identifiers.org/hgnc/15888		
MONDO:0012260	biolink:Disease	cataract 35	A cataract that has material basis in variation in the region 19q13.	OMIM:609376|MESH:C563728|UMLS:C1836272|DOID:0110261	mondo.json	cataract 35, congenital nuclear|cataract type 35|autosomal recessive congenital nuclear cataract 1|cataract 35|cataract, congenital nuclear, autosomal recessive 1|CTRCT35|CATCN1	http://purl.obolibrary.org/obo/MONDO_0012260	DOID:0110261|UMLS:C1836272|http://identifiers.org/mesh/C563728|https://omim.org/entry/609376	
HGNC:13221	biolink:NamedThing	BCL11A			mondo.json		http://identifiers.org/hgnc/13221		
GO:0036072	biolink:NamedThing	direct ossification	The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance, that does not require the replacement of preexisting tissues.		mondo.json		http://purl.obolibrary.org/obo/GO_0036072		
HGNC:13222	biolink:NamedThing	BCL11B			mondo.json		http://identifiers.org/hgnc/13222		
MONDO:0012263	biolink:Disease	autoimmune disease, susceptibility to, 4		OMIM:609400	mondo.json	autoimmune disease, susceptibility to, 4|vitiligo-associated multiple autoimmune disease susceptibility 5|AIS4|autoimmune disease susceptibility locus, chromosome 4-related	http://purl.obolibrary.org/obo/MONDO_0012263	https://omim.org/entry/609400	predisposition
MONDO:0012264	biolink:Disease	preeclampsia/eclampsia 2		UMLS:C1836257|OMIM:609402	mondo.json	PREECLAMPSIA/eclampsia 2|PEE2	http://purl.obolibrary.org/obo/MONDO_0012264	UMLS:C1836257|https://omim.org/entry/609402	
CHEBI:77974	biolink:ChemicalSubstance	food packaging gas	A food additive that is a (generally inert) gas which is used to envelop foodstuffs during packing and so protect them from unwanted chemical reactions such as food spoilage or oxidation during subsequent transport and storage. The term includes propellant gases, used to expel foods from a container.		mondo.json	food packaging gases	http://purl.obolibrary.org/obo/CHEBI_77974		
MONDO:0012261	biolink:Disease	autism, susceptibility to, 6		OMIM:609378|UMLS:C1836271	mondo.json	autism, susceptibility to, 6|AUTS6|autism susceptibility 6	http://purl.obolibrary.org/obo/MONDO_0012261	UMLS:C1836271|https://omim.org/entry/609378	predisposition
MONDO:0012262	biolink:Disease	fibrosis of extraocular muscles, congenital, 3c		OMIM:609384|MESH:C567666|UMLS:C2750404	mondo.json	fibrosis of extraocular muscles, congenital, 3C|CFEOM3C|Feom4 locus	http://purl.obolibrary.org/obo/MONDO_0012262	http://identifiers.org/mesh/C567666|UMLS:C2750404|https://omim.org/entry/609384	
MONDO:0024234	biolink:Disease	Seckel like syndrome majoor-krakauer type		GARD:0004781	mondo.json	Bird-headed dwarfism microcephaly micrognathia	http://purl.obolibrary.org/obo/MONDO_0024234		gard_rare
MONDO:0000289	biolink:Disease	obsolete selective IgM deficiency disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000289		
MONDO:0000288	biolink:Disease	polycystic echinococcosis		DOID:0050218	mondo.json	neotropical echinococcosis|human polycystic hydatid disease	http://purl.obolibrary.org/obo/MONDO_0000288	DOID:0050218	
MONDO:0000287	biolink:Disease	obsolete Lambert-Eaton myasthenic syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000287		
MONDO:0024236	biolink:Disease	obsolete degenerative disorder	OBSOLETE. A disorder characterized by the progressive loss of function and/or structure of the affected tissues.	UMLS:C1285162|ICD9:796.4|NCIT:C27090|SCTID:362975008	mondo.json	degenerative disorder|degenerative disease	http://purl.obolibrary.org/obo/MONDO_0024236		
MONDO:0000286	biolink:Disease	Epstein-Barr virus hepatitis	A viral hepatitis that results in inflammation, located in liver, has material basis in Human herpesvirus 4 and has symptom headache, has symptom fatigue, has symptom fever, has symptom abdominal pain, has symptom nausea, and has symptom jaundice.	UMLS:C0554114|DOID:0050204|SCTID:302919001	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000286	UMLS:C0554114|DOID:0050204|http://identifiers.org/snomedct/302919001	
MONDO:0024235	biolink:Disease	Brenner tumor	A usually benign tumor composed of solid and cystic nests of epithelial cells resembling transitional epithelium; it is surrounded by an abundant stromal component that is dense and fibroblastic in nature.	ICDO:9000/0|ONCOTREE:BTOV|NCIT:C39954	mondo.json	Brenner tumor	http://purl.obolibrary.org/obo/MONDO_0024235	NCIT:C39954	
MONDO:0024238	biolink:Disease	cerebral degeneration	A neurodegenerative disease that involves the telencephalon.	ICD9:331.9|UMLS:C0154671|SCTID:418143002	mondo.json	neurodegenerative disease of telencephalon|telencephalon neurodegenerative disease|cerebral degeneration	http://purl.obolibrary.org/obo/MONDO_0024238	UMLS:C0154671|http://identifiers.org/snomedct/418143002	
MONDO:0024237	biolink:Disease	inherited neurodegenerative disorder	An inherited disorder characterized by progressive degeneration and atrophy of the nervous system.	UMLS:CN200549|UMLS:C3273225|Orphanet:183500|MESH:D020271|NCIT:C97073	mondo.json	genetic neurodegenerative disease|hereditary neurodegenerative disorder|hereditary neurodegenerative disease	http://purl.obolibrary.org/obo/MONDO_0024237	http://identifiers.org/mesh/D020271|UMLS:C3273225|Orphanet:183500|UMLS:CN200549|NCIT:C97073	disease_grouping|ordo_group_of_disorders
MONDO:0024239	biolink:Disease	congenital anomaly of cardiovascular system	A disease that has its basis in the disruption of cardiovascular system development.	ICD9:747.89|SCTID:9904008|ICD9:747.9|NCIT:C35729	mondo.json	disorder of cardiovascular system development|congenital cardiovascular anomaly|congenital cardiovascular disorder|congenital anomaly of cardiovascular system|cardiovascular system development disease|congenital Abnormality of the circulatory system|congenital cardiovascular Abnormality	http://purl.obolibrary.org/obo/MONDO_0024239	http://identifiers.org/snomedct/9904008|NCIT:C35729	
MONDO:0000281	biolink:Disease	obsolete Chapare hemorrhagic fever			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000281		
MONDO:0000280	biolink:Disease	obsolete Brazilian hemorrhagic fever			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000280		
MONDO:0000285	biolink:Disease	obsolete lujo hemorrhagic fever			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000285		
MONDO:0000284	biolink:Disease	Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type		DOID:0050201|UMLS:C0242993	mondo.json	nephropathia epidemica|nephropathis epidemica	http://purl.obolibrary.org/obo/MONDO_0000284	UMLS:C0242993|DOID:0050201	
MONDO:0000283	biolink:Disease	Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type		DOID:0050200	mondo.json	Korean hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0000283	DOID:0050200	
MONDO:0000282	biolink:Disease	Whitewater Arroyo hemorrhagic fever	A viral infectious disease that is a hemorrhagic fever, has material basis in Whitewater Arroyo virus, which is transmitted by white-throated woodrats (Neotoma albigula). The infection has symptom fever, has symptom headache, has symptom myalgia, and has symptom hemorrhagic manifestations.	DOID:0050199	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000282	DOID:0050199	
MONDO:0012256	biolink:Disease	hereditary spastic paraplegia 28	Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.	OMIM:609340|MESH:C563732|SCTID:763376002|UMLS:C1836295|DOID:0110779|Orphanet:101008	mondo.json	DDHD1 autosomal recessive pure spastic paraplegia|autosomal recessive spastic paraplegia type 28|hereditary spastic paraplegia type 28|autosomal recessive pure spastic paraplegia caused by mutation in DDHD1|spastic paraplegia 28, autosomal recessive|autosomal recessive spastic paraplegia 28|SPG28|hereditary spastic paraplegia 28	http://purl.obolibrary.org/obo/MONDO_0012256	http://identifiers.org/snomedct/763376002|DOID:0110779|UMLS:C1836295|Orphanet:101008|http://identifiers.org/mesh/C563732|https://omim.org/entry/609340	ordo_disease
MONDO:0012257	biolink:Disease	Cerebrorenodigital syndrome		MESH:C563731|UMLS:C1836287|Orphanet:1396|OMIM:609345	mondo.json	CEREBRORENODIGITAL syndrome with limb malformations and triradiate acetabula	http://purl.obolibrary.org/obo/MONDO_0012257	UMLS:C1836287|http://identifiers.org/mesh/C563731|https://omim.org/entry/609345	ordo_malformation_syndrome
MONDO:0012254	biolink:Disease	multiple epiphyseal dysplasia, with miniepiphyses	Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.	UMLS:C1836307|Orphanet:166032|OMIM:609325|MESH:C563735|ICD10CM:Q77.3	mondo.json	epiphyseal dysplasia, multiple, with miniepiphyses	http://purl.obolibrary.org/obo/MONDO_0012254	UMLS:C1836307|http://identifiers.org/mesh/C563735|https://omim.org/entry/609325|Orphanet:166032	ordo_disease
MONDO:0012255	biolink:Disease	chromosome 18 pericentric inversion		MESH:C563734|UMLS:C1836305|OMIM:609334	mondo.json	chromosome 18 pericentric inversion	http://purl.obolibrary.org/obo/MONDO_0012255	UMLS:C1836305|http://identifiers.org/mesh/C563734|https://omim.org/entry/609334	
MONDO:0012258	biolink:Disease	epidermolysis bullosa simplex 2E, with migratory circinate erythema	A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.	SCTID:716700003|OMIM:609352|MESH:C563730|Orphanet:158681|UMLS:C1836284	mondo.json	epidermolysis bullosa simplex 2E, with migratory circinate erythema|epidermolysis bullosa simplex with migratory circinate erythema|EBS-migr	http://purl.obolibrary.org/obo/MONDO_0012258	http://identifiers.org/snomedct/716700003|Orphanet:158681|UMLS:C1836284|http://identifiers.org/mesh/C563730|https://omim.org/entry/609352	ordo_disease
MONDO:0012259	biolink:Disease	colloid cysts of third ventricle	Colloid cysts of the third ventricle are non-cancerous brain lesions. The third ventricle is a cavity in the brain that is filled with cerebral spinal fluid (CSF). Colloid cysts can cause blockages resulting in a build up of CSF in the brain (hydrocephalus) and increased pressure. Some colloid cysts are asymptomatic while others cause neurological symptoms, such as headaches, swelling of the optic nerve (papilledema), and drop attacks. When symptoms are present onset tends to be in the third to sixth decade of life. While uncommon, symptoms of colloid cyst can become life threatening.	OMIM:609363|MESH:C535966|GARD:0009878	mondo.json	neuroepithelial cysts of third ventricle|colloid cysts of third ventricle	http://purl.obolibrary.org/obo/MONDO_0012259	http://identifiers.org/mesh/C535966|https://omim.org/entry/609363	gard_rare
HGNC:15899	biolink:NamedThing	NDUFAF5			mondo.json		http://identifiers.org/hgnc/15899		
HGNC:15894	biolink:NamedThing	PANK2			mondo.json		http://identifiers.org/hgnc/15894		
MONDO:0012252	biolink:Disease	rhabdoid tumor predisposition syndrome 1	Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene.	Orphanet:99966|UMLS:C1266184|MESH:C563738|OMIM:609322	mondo.json	brain tumor, posterior fossa, of infancy, familial|SMARCB1 familial rhabdoid tumor|At/RT|malignant rhabdoid tumor, somatic|familial rhabdoid tumor caused by mutation in SMARCB1|rhabdoid tumor predisposition syndrome type 1|rhabdoid tumor predisposition syndrome 1|teratoid tumor, atypical|RTPS1|rhabdoid tumors, somatic	http://purl.obolibrary.org/obo/MONDO_0012252	http://identifiers.org/mesh/C563738|https://omim.org/entry/609322	
MONDO:0012253	biolink:Disease	multiple epiphyseal dysplasia, with severe proximal femoral dysplasia	Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.	Orphanet:166029|UMLS:C1836315|ICD10CM:Q77.3|MESH:C563736|OMIM:609324	mondo.json	epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia	http://purl.obolibrary.org/obo/MONDO_0012253	UMLS:C1836315|https://omim.org/entry/609324|http://identifiers.org/mesh/C563736|Orphanet:166029	ordo_disease
CHEBI:75324	biolink:ChemicalSubstance	excipient	A generally pharmacologically inactive substance that is formulated with the active ingredient of a medication.		mondo.json	filler|excipient|bulking agents|bulking agent|fillers	http://purl.obolibrary.org/obo/CHEBI_75324		
MONDO:0012250	biolink:Disease	Charcot-Marie-Tooth disease type 4H	Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy	Orphanet:99954|MESH:C563740|UMLS:C1836336|DOID:0110192|GARD:0012442|OMIM:609311|SCTID:715802008	mondo.json	FGD4 Charcot-Marie-Tooth disease type 4|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H|Charcot-Marie-Tooth disease, autosomal recessive, type 4H|Charcot-Marie-Tooth disease type 4 caused by mutation in FGD4|Charcot-Marie-Tooth disease type 4H|CMT4H|autosomal recessive Charcot-Marie-Tooth disease type 4H|Charcot-Marie-Tooth neuropathy, type 4H|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4H|Charcot-Marie-Tooth disease, type 4H|Charcot-Marie-Tooth neuropathy type 4H	http://purl.obolibrary.org/obo/MONDO_0012250	Orphanet:99954|DOID:0110192|http://identifiers.org/snomedct/715802008|UMLS:C1836336|http://identifiers.org/mesh/C563740|https://omim.org/entry/609311	ordo_disease|gard_rare
MONDO:0012251	biolink:Disease	MEDNIK syndrome	MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).	Orphanet:171851|UMLS:CN229776|DOID:0060483|SCTID:722035007|MESH:C563739|OMIM:609313|UMLS:C1836330	mondo.json	mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma|intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia|mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia|intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma|erythrokeratodermia variabilis, Kamouraska type|erythrokeratodermia variabilis 3|MEDNIK|intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome	http://purl.obolibrary.org/obo/MONDO_0012251	Orphanet:171851|UMLS:C1836330|DOID:0060483|https://omim.org/entry/609313|http://identifiers.org/mesh/C563739|UMLS:CN229776|http://identifiers.org/snomedct/722035007	ordo_disease
MONDO:0000256	biolink:Disease	systemic mycosis	A mycosis that involves the lungs, abdominal viscera, bones and or central nervous system.	UMLS:C0553576|SCTID:399314004|DOID:0050136|ICD9:117.9	mondo.json	systemic fungal infection	http://purl.obolibrary.org/obo/MONDO_0000256	http://identifiers.org/snomedct/399314004|DOID:0050136|UMLS:C0553576	
MONDO:0000255	biolink:Disease	subcutaneous mycosis	A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis.	DOID:0050135	mondo.json	subcutaneous mycosis	http://purl.obolibrary.org/obo/MONDO_0000255	DOID:0050135	
MONDO:0000254	biolink:Disease	cutaneous mycosis	A mycosis that involves the integument and its appendages, including hair and nails. Infection may involve the stratum corneum or deeper layers of the epidermis.	SCTID:14560005|DOID:0050134	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000254	DOID:0050134|http://identifiers.org/snomedct/14560005	
MONDO:0000253	biolink:Disease	piedra	Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, moustache and genital areas and is caused by Trichosporon species.	UMLS:C0031898|MESH:D010854|SCTID:402135006	mondo.json	Piedras, black|steroid-modified tinea infection|piedra, White|White piedra|black Piedras|hair shaft fungal infectious disease|Piedras, White|black piedra|White Piedras|piedra, black|Piedras	http://purl.obolibrary.org/obo/MONDO_0000253	http://identifiers.org/snomedct/402135006|UMLS:C0031898|http://identifiers.org/mesh/D010854	
MONDO:0024227	biolink:Disease	miliaria pustulosa	A miliaria that is characterized by pustules resulting from inflammation and bacterial infection.	DOID:0070319|SCTID:26988005	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024227	DOID:0070319|http://identifiers.org/snomedct/26988005	
MONDO:0000259	biolink:Disease	asymptomatic dengue		DOID:0050143	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000259	DOID:0050143	
MONDO:0024229	biolink:Disease	miliaria crystallina	A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located in the stratum corneum.	DOID:0070321	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024229	DOID:0070321	
MONDO:0000258	biolink:Disease	obsolete intestinal botulism			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000258		
MONDO:0024228	biolink:Disease	miliaria profunda	A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash.	SCTID:47317002|DOID:0070320	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024228	DOID:0070320|http://identifiers.org/snomedct/47317002	
MONDO:0000257	biolink:Disease	acute diarrhea	Acute form of diarrhea.	DOID:0050140|SCTID:409966000|UMLS:C0740441	mondo.json	acute diarrheal disease|diarrheal disease, acute|diarrhea, acute|diarrhea (disease), acute	http://purl.obolibrary.org/obo/MONDO_0000257	UMLS:C0740441|DOID:0050140|http://identifiers.org/snomedct/409966000	
MONDO:0000252	biolink:Disease	inflammatory diarrhea	An diarrhea (disease) involving a pathogenic inflammatory response in the intestinal mucosa.	SCTID:95544006|DOID:0050132	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000252	DOID:0050132|http://identifiers.org/snomedct/95544006	
MONDO:0000251	biolink:Disease	diarrheal disease secondary to altered bowel motility	A diarrhea that results from either increased or decreased motility in the bowel.		mondo.json	motility-related diarrhea|diarrhea secondary to altered bowel motility	http://purl.obolibrary.org/obo/MONDO_0000251		
MONDO:0000250	biolink:Disease	osmotic diarrheal disease	A diarrhea that results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption.	MEDGEN:540779|UMLS:C0267556|SCTID:2946003|DOID:0050130	mondo.json	permeability diarrhea|osmotic diarrhea	http://purl.obolibrary.org/obo/MONDO_0000250	UMLS:C0267556|DOID:0050130|http://identifiers.org/snomedct/2946003	
MONDO:0012245	biolink:Disease	developmental and epileptic encephalopathy, 3	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene.	DOID:0080440|OMIM:609304	mondo.json	SLC25A22 early infantile epileptic encephalopathy|EIEE3|epileptic encephalopathy, early infantile, type 3|epileptic encephalopathy, early infantile, 3|early infantile epileptic encephalopathy caused by mutation in SLC25A22|developmental and epileptic encephalopathy 3|DEE3	http://purl.obolibrary.org/obo/MONDO_0012245	DOID:0080440|https://omim.org/entry/609304	
MONDO:0012246	biolink:Disease	spinocerebellar ataxia type 26	Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.	GARD:0009995|DOID:0050975|OMIM:609306|UMLS:C1836395|SCTID:718769009|MESH:C537203|Orphanet:101112	mondo.json	SCA26|spinocerebellar ataxia 26|spinocerebellar ataxia type 26	http://purl.obolibrary.org/obo/MONDO_0012246	http://identifiers.org/mesh/C537203|http://identifiers.org/snomedct/718769009|DOID:0050975|UMLS:C1836395|https://omim.org/entry/609306|Orphanet:101112	ordo_disease
HGNC:15868	biolink:NamedThing	ABHD12			mondo.json		http://identifiers.org/hgnc/15868		
MONDO:0012243	biolink:Disease	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations		UMLS:C1836437|MESH:C563745|OMIM:609296	mondo.json	Bilu syndrome|Hoffman syndrome|B-cell immunodeficiency, distal limb anomalies, and urogenital malformations	http://purl.obolibrary.org/obo/MONDO_0012243	http://identifiers.org/mesh/C563745|UMLS:C1836437|https://omim.org/entry/609296	
MONDO:0012244	biolink:Disease	prostate cancer, hereditary, 5		OMIM:609299|MESH:C563744|UMLS:C1836436	mondo.json	prostate cancer, hereditary, type 5|prostate cancer, hereditary, 5|HPC5	http://purl.obolibrary.org/obo/MONDO_0012244	https://omim.org/entry/609299|http://identifiers.org/mesh/C563744|UMLS:C1836436	
MONDO:0012249	biolink:Disease	colorectal cancer, hereditary nonpolyposis, type 2	Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH1 gene.	OMIM:609310|NCIT:C6726|MESH:D055847|DOID:0070274	mondo.json	Hereditary non-polyposis colon cancer type 2|COCA2|colorectal cancer, hereditary nonpolyposis, type 2|HNPCC2|colon cancer, familial nonpolyposis, type 2|Hereditary nonpolyposis colorectal cancer type 2|familial non-polyposis colon cancer type 2|Lynch 2 syndrome	http://purl.obolibrary.org/obo/MONDO_0012249	https://omim.org/entry/609310|DOID:0070274|http://identifiers.org/mesh/D055847	
HGNC:15865	biolink:NamedThing	KIZ			mondo.json		http://identifiers.org/hgnc/15865		
HGNC:15864	biolink:NamedThing	RBCK1			mondo.json		http://identifiers.org/hgnc/15864		
HGNC:13203	biolink:NamedThing	AICDA			mondo.json		http://identifiers.org/hgnc/13203		
MONDO:0012247	biolink:Disease	spinocerebellar ataxia type 27	Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.	GARD:0009963|OMIM:609307|DOID:0050976|SCTID:719252002|MESH:C537204|UMLS:C1836383|UMLS:C4304846|Orphanet:98764	mondo.json	SCA27|cerebellar ataxia autosomal dominant FGF14-related|spinocerebellar ataxia 27|cerebellar ataxia, autosomal dominant, Fgf14-related|spinocerebellar ataxia type 27	http://purl.obolibrary.org/obo/MONDO_0012247	http://identifiers.org/snomedct/719252002|http://identifiers.org/mesh/C537204|Orphanet:98764|DOID:0050976|UMLS:C1836383|https://omim.org/entry/609307	ordo_disease
MONDO:0012248	biolink:Disease	autosomal recessive limb-girdle muscular dystrophy type 2K	Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.	Orphanet:86812|EFO:0009145|OMIM:609308|DOID:0110297|NCIT:C133730|SCTID:720523006|GARD:0012535	mondo.json	autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1|POMT1 autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy - intellectual disability|MDDGC1|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1|muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1|LGMD-POMT1 related|LGMD2K|muscular dystrophy, limb-girdle, type 2K|limb-girdle muscular dystrophy-intellectual disability syndrome|muscular dystrophy limb-girdle type 2K|limb-girdle muscular dystrophy type 2K	http://purl.obolibrary.org/obo/MONDO_0012248	https://omim.org/entry/609308|http://identifiers.org/snomedct/720523006|NCIT:C133730|Orphanet:86812|DOID:0110297	ordo_disease
HGNC:15860	biolink:NamedThing	PRPF6			mondo.json		http://identifiers.org/hgnc/15860		
HGNC:13201	biolink:NamedThing	ADAMTS10			mondo.json		http://identifiers.org/hgnc/13201		
MONDO:0012241	biolink:Disease	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene.	UMLS:C1836439|OMIM:609286|MESH:C563747|DOID:0111520	mondo.json	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 3|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3|progressive external ophthalmoplegia, autosomal dominant 3|TWNK progressive external ophthalmoplegia with mitochondrial DNA deletions|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in TWNK|PEOA3	http://purl.obolibrary.org/obo/MONDO_0012241	DOID:0111520|https://omim.org/entry/609286|UMLS:C1836439|http://identifiers.org/mesh/C563747	
MONDO:0012242	biolink:Disease	syncope, familial vasovagal		OMIM:609289|MESH:C536849|UMLS:C1836438|GARD:0009502	mondo.json	familial vasovagal syncope|VVS|familial neurocardiogenic syncope|syncope familial neurocardiogenic|syncope, familial Neurocardiogenic|syncope, familial VASOVAGAL	http://purl.obolibrary.org/obo/MONDO_0012242	http://identifiers.org/mesh/C536849|https://omim.org/entry/609289|UMLS:C1836438	
MONDO:0012240	biolink:Disease	nemaline myopathy 4	Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene.	OMIM:609285|MESH:C538351|Orphanet:171881|UMLS:C1836447|DOID:0110932	mondo.json	nemaline myopathy type 4|TPM2 nemaline myopathy|nemaline myopathy 4, autosomal dominant|nemaline myopathy 4|nemaline myopathy caused by mutation in TPM2|NEM4|Cap myopathy 2	http://purl.obolibrary.org/obo/MONDO_0012240	http://identifiers.org/mesh/C538351|DOID:0110932|UMLS:C1836447|https://omim.org/entry/609285	
MONDO:0000267	biolink:Disease	obsolete cryptogenic organizing pneumonia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000267		
MONDO:0000266	biolink:Disease	pulmonary aspergilloma	A aspergillosis that involves the lung.	MESH:D055732|UMLS:C2350529|DOID:0050153	mondo.json	lung aspergillosis	http://purl.obolibrary.org/obo/MONDO_0000266	UMLS:C2350529|http://identifiers.org/mesh/D055732|DOID:0050153	
MONDO:0000265	biolink:Disease	aspiration pneumonia	A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper respiratory tract.	MESH:D011015|SCTID:422588002|HP:0011951|UMLS:C0032290|DOID:0050152|UMLS:C0085740	mondo.json	aspiration Pneumonias|Pneumonias, aspiration|gastric acid aspiration syndrome|syndrome, acid aspiration|Mendelsons syndrome|syndromes, acid aspiration|aspiration pneumonia|Mendelson's syndrome|syndrome, Mendelson|aspiration pneumonia (disease)|Mendelson syndrome|syndrome, Mendelson's|acid aspiration syndromes|acid aspiration syndrome|inhalation pneumonia	http://purl.obolibrary.org/obo/MONDO_0000265	UMLS:C0032290|DOID:0050152|UMLS:C0085740|http://identifiers.org/snomedct/422588002|http://identifiers.org/mesh/D011015	
MONDO:0000264	biolink:Disease	obsolete Pontiac fever			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000264		
MONDO:0000269	biolink:Disease	obsolete inhalation anthrax			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000269		
MONDO:0000268	biolink:Disease	obsolete lymphoid interstitial pneumonia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000268		
MONDO:0012229	biolink:Disease	myopia 9		MESH:C563759|OMIM:609258|UMLS:C1836504	mondo.json	myopia 9|MYP9	http://purl.obolibrary.org/obo/MONDO_0012229	https://omim.org/entry/609258|http://identifiers.org/mesh/C563759|UMLS:C1836504	
MONDO:0000263	biolink:Disease	laryngotracheitis	An inflammation of both larynx and trachea.	ICD9:464|SCTID:55130001|DOID:0050148|UMLS:C0023076|ICD9:464.2|ICD9:476.1	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000263	DOID:0050148|http://identifiers.org/snomedct/55130001|UMLS:C0023076	
CHR:9606-chr19q13.1	biolink:NamedThing	19q13.1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr19q13.1		
MONDO:0000262	biolink:Disease	otomycosis	Fungus infection of the external ear, usually by aspergillus species	MESH:D059249|UMLS:C0029895|DOID:0050147|SCTID:53316003|ICD9:111.8	mondo.json	Singapore ear|otitis mycotic externa|external ear fungal infectious disease	http://purl.obolibrary.org/obo/MONDO_0000262	DOID:0050147|http://identifiers.org/snomedct/53316003|http://identifiers.org/mesh/D059249|UMLS:C0029895	
MONDO:0000261	biolink:Disease	adenoiditis	An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil.	DOID:0050145|UMLS:C0001427|ICD9:474.01|ICD10CM:J35.02|UMLS:C0396023|SCTID:70020005	mondo.json	inflammation of pharyngeal tonsil|pharyngeal tonsil inflammation|pharyngeal tonsilitis|chronic adenoiditis	http://purl.obolibrary.org/obo/MONDO_0000261	UMLS:C0001427|DOID:0050145|UMLS:C0396023|http://purl.bioontology.org/ontology/ICD10CM/J35.02|http://identifiers.org/snomedct/70020005	
MONDO:0000260	biolink:Disease	obsolete Kartagener syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000260		
MONDO:0014897	biolink:Disease	obsolete portal hypertension, noncirrhotic			mondo.json		http://purl.obolibrary.org/obo/MONDO_0014897		
MONDO:0012234	biolink:Disease	obsolete LFS3			mondo.json		http://purl.obolibrary.org/obo/MONDO_0012234		
MONDO:0012235	biolink:Disease	autosomal recessive spinocerebellar ataxia 7	Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner.	OMIM:609270|MESH:C563753|DOID:0080059|Orphanet:284324|UMLS:C1836474|GARD:0012232	mondo.json	childhood onset autosomal recessive slowly progressive spinocerebellar ataxia|autosomal recessive spinocerebellar ataxia type 7|childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia|spinocerebellar ataxia, autosomal recessive type 7|spinocerebellar ataxia autosomal recessive 7|SCAR7|spinocerebellar ataxia, autosomal recessive 7	http://purl.obolibrary.org/obo/MONDO_0012235	http://identifiers.org/mesh/C563753|https://omim.org/entry/609270|DOID:0080059|Orphanet:284324|UMLS:C1836474	gard_rare|ordo_disease
MONDO:0014896	biolink:Disease	congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome		UMLS:C4310736|Orphanet:486815|OMIM:617066	mondo.json	muscular dystrophy, congenital, Davignon-Chauveau type|MDCDC|congenital muscular dystrophy, Davignon-Chauveau type	http://purl.obolibrary.org/obo/MONDO_0014896	Orphanet:486815|UMLS:C4310736|https://omim.org/entry/617066	ordo_disease
MONDO:0012232	biolink:Disease	stuttering, familial persistent, 2		MESH:C563756|OMIM:609261|UMLS:C1836484	mondo.json	stuttering, familial persistent, 2|STUT2	http://purl.obolibrary.org/obo/MONDO_0012232	https://omim.org/entry/609261|http://identifiers.org/mesh/C563756|UMLS:C1836484	
MONDO:0014895	biolink:Disease	developmental and epileptic encephalopathy, 40	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene.	UMLS:C4310737|DOID:0080427|OMIM:617065	mondo.json	EIEE40|DEE40|epileptic encephalopathy, early infantile, 40|early infantile epileptic encephalopathy caused by mutation in GUF1|epileptic encephalopathy, early infantile, 40; EIEE40|GUF1 early infantile epileptic encephalopathy|developmental and epileptic encephalopathy 40|epileptic encephalopathy, early infantile, type 40	http://purl.obolibrary.org/obo/MONDO_0014895	UMLS:C4310737|DOID:0080427|https://omim.org/entry/617065	
MONDO:0014894	biolink:Disease	Meier-Gorlin syndrome 7	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene.	OMIM:617063|DOID:0080518|UMLS:C4310738	mondo.json	Meier-Gorlin syndrome caused by mutation in CDC45|MGORS7|Meier-Gorlin syndrome type 7|Meier-Gorlin syndrome 7|CDC45 Meier-Gorlin syndrome|Meier-Gorlin syndrome 7; MGORS7	http://purl.obolibrary.org/obo/MONDO_0014894	https://omim.org/entry/617063|UMLS:C4310738|DOID:0080518	
MONDO:0012233	biolink:Disease	Li-Fraumeni syndrome 2	Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the CHEK2 gene.	MESH:C563755|OMIM:609265|DOID:0111504|UMLS:C1836482	mondo.json	Li-Fraumeni syndrome type 2|LFS2|CHEK2 Li-Fraumeni syndrome|Li-Fraumeni syndrome 2|Li-Fraumeni syndrome caused by mutation in CHEK2	http://purl.obolibrary.org/obo/MONDO_0012233	DOID:0111504|http://identifiers.org/mesh/C563755|UMLS:C1836482|https://omim.org/entry/609265	clingen
MONDO:0012238	biolink:Disease	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene.	MESH:C563750|DOID:0111517|OMIM:609283|UMLS:C1836460	mondo.json	SLC25A4 progressive external ophthalmoplegia with mitochondrial DNA deletions|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in SLC25A4|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 2|PEOA2|progressive external ophthalmoplegia, autosomal dominant 2|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	http://purl.obolibrary.org/obo/MONDO_0012238	UMLS:C1836460|https://omim.org/entry/609283|http://identifiers.org/mesh/C563750|DOID:0111517	
MONDO:0012239	biolink:Disease	nemaline myopathy 1	Any nemaline myopathy in which the cause of the disease is a mutation in the TPM3 gene.	OMIM:609284|UMLS:C1836448|Orphanet:171881|DOID:0110926|MESH:C538348	mondo.json	nemaline myopathy type 1|nemaline myopathy 1|nemaline myopathy caused by mutation in TPM3|NEM1|Cap myopathy 1|nemaline myopathy 1, autosomal dominant or recessive|Nem1|TPM3 nemaline myopathy	http://purl.obolibrary.org/obo/MONDO_0012239	DOID:0110926|UMLS:C1836448|https://omim.org/entry/609284|http://identifiers.org/mesh/C538348	
MONDO:0014899	biolink:Disease	adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.	Orphanet:329314|UMLS:C4310733|OMIM:617070|DOID:0111516|SCTID:733599009	mondo.json	adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 4|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4|PEOB4|progressive external ophthalmoplegia, autosomal recessive 4	http://purl.obolibrary.org/obo/MONDO_0014899	UMLS:C4310733|https://omim.org/entry/617070|Orphanet:329314|DOID:0111516|http://identifiers.org/snomedct/733599009	ordo_disease
MONDO:0012236	biolink:Disease	keratoconus 4		MESH:C563752|UMLS:C1836473|OMIM:609271	mondo.json	keratoconus 4|KTCN4	http://purl.obolibrary.org/obo/MONDO_0012236	https://omim.org/entry/609271|UMLS:C1836473|http://identifiers.org/mesh/C563752	
MONDO:0012237	biolink:Disease	nemaline myopathy 6	Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene.	MESH:C538398|OMIM:609273|DOID:0110935|UMLS:C1836472	mondo.json	nemaline myopathy caused by mutation in KBTBD13|nemaline myopathy 6, autosomal dominant|NEM6|nemaline myopathy type 6|KBTBD13 nemaline myopathy|nemaline myopathy 6	http://purl.obolibrary.org/obo/MONDO_0012237	UMLS:C1836472|DOID:0110935|https://omim.org/entry/609273|http://identifiers.org/mesh/C538398	
MONDO:0014898	biolink:Disease	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene.	OMIM:617069|UMLS:C4310734|DOID:0111523	mondo.json	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3; PEOB3|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 3|PEOB3|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3|autosomal recessive progressive external ophthalmoplegia caused by mutation in TK2|progressive external ophthalmoplegia, autosomal recessive 3|TK2 autosomal recessive progressive external ophthalmoplegia	http://purl.obolibrary.org/obo/MONDO_0014898	UMLS:C4310734|https://omim.org/entry/617069|DOID:0111523	
NCBITaxon:2732396	biolink:OrganismalEntity	Orthornavirae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732396		
HGNC:13210	biolink:NamedThing	ARL6			mondo.json		http://identifiers.org/hgnc/13210		
HGNC:13211	biolink:NamedThing	ATP2C1			mondo.json		http://identifiers.org/hgnc/13211		
MONDO:0012230	biolink:Disease	myopia 10		UMLS:C1836503|OMIM:609259|MESH:C563758	mondo.json	myopia 10|MYP10	http://purl.obolibrary.org/obo/MONDO_0012230	https://omim.org/entry/609259|http://identifiers.org/mesh/C563758|UMLS:C1836503	
MONDO:0014893	biolink:Disease	Okur-Chung neurodevelopmental syndrome		OMIM:617062|UMLS:C4310739	mondo.json	Okur-Chung neurodevelopmental syndrome|OCNDS|Okur-Chung neurodevelopmental syndrome; OCNDS	http://purl.obolibrary.org/obo/MONDO_0014893	UMLS:C4310739|https://omim.org/entry/617062	
MONDO:0014892	biolink:Disease	micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome		OMIM:617061|UMLS:C4310740|Orphanet:476126|DOID:0070074	mondo.json	intellectual developmental disorder, autosomal dominant 44, with microcephaly|mercer-Ba syndrome|autosomal dominant mental retardation 44|autosomal dominant intellectual disability 44|intellectual disability, autosomal dominant 44|autosomal dominant non-syndromic intellectual disability 44|MRD44|mental retardation, autosomal dominant 44|MEBAS	http://purl.obolibrary.org/obo/MONDO_0014892	https://omim.org/entry/617061|UMLS:C4310740|Orphanet:476126|DOID:0070074	ordo_malformation_syndrome
MONDO:0012231	biolink:Disease	Charcot-Marie-Tooth disease type 2A2	Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.	Orphanet:99947|DOID:0110155|MESH:C563757|SCTID:764850002|UMLS:C1836485|NCIT:C150646|OMIM:609260	mondo.json	Charcot-Marie-Tooth neuropathy, type 2A2|autosomal dominant Charcot-Marie-Tooth disease type 2A2|Charcot-Marie-Tooth disease type 2A2A|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A|HMSN IIA2|MFN2 Charcot-Marie-Tooth disease type 2|hereditary motor and sensory neuropathy IIa2|Charcot-Marie-Tooth neuropathy type 2A2|Charcot-Marie-Tooth disease, axonal, type 2A2A|CMT2A2A|hereditary motor and sensory neuropathy IIA2|Charcot-Marie-Tooth disease, neuronal, type 2A2|Charcot-Marie-Tooth disease, axonal, type 2A2|Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2|Charcot-Marie-Tooth neuronal type 2A2|autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2|CMT2A2|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2|HMSN2A2|HMSN IIa2	http://purl.obolibrary.org/obo/MONDO_0012231	Orphanet:99947|NCIT:C150646|DOID:0110155|http://identifiers.org/snomedct/764850002|http://identifiers.org/mesh/C563757|UMLS:C1836485|https://omim.org/entry/609260	ordo_disease
MONDO:0014891	biolink:Disease	hyperuricemic nephropathy, familial juvenile type 4	Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene.	UMLS:C4310741|OMIM:617056	mondo.json	SEC61A1-related autosomal dominant tubulointerstitial kidney disease|SEC61A1 familial juvenile hyperuricemic nephropathy|hyperuricemic NEPHROPATHY, familial juvenile, 4|HNFJ4|familial juvenile hyperuricemic nephropathy caused by mutation in SEC61A1|ADTKD-SEC61A1|tubulointerstitial kidney disease, autosomal dominant, 5|hyperuricemic nephropathy, familial juvenile, type 4|hyperuricemic nephropathy, familial juvenile, 4	http://purl.obolibrary.org/obo/MONDO_0014891	UMLS:C4310741|https://omim.org/entry/617056	
NCBITaxon:2732397	biolink:OrganismalEntity	Pararnavirae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732397		
MONDO:0014890	biolink:Disease	PERCHING syndrome	Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene.	UMLS:C4310742|DOID:0080331|OMIM:617055|Orphanet:603684	mondo.json	PERCHING|Postural and Palatal abnormalities; Exophthalmos and Enteral-tube dependency/feeding issues; Respiratory distress and Retinitis pigmentosa; Contractures and Camptodactyly; Hypertelorism and Hirsutism; Intrauterine growth retardation (IUGR)/growth failure and Intellectual disability/developmental delay; Nevus flammeus and Neurologic malformations;and facial Gestalt/grimacing and Genitourinary abnormalities|CISS3|KLHL7-related bohring-opitz-like/cold-induced sweating-like overlap syndrome|KLHL7 cold-induced sweating syndrome|cold-induced sweating syndrome type 3|cold-induced sweating syndrome caused by mutation in KLHL7|cold-induced sweating syndrome 3|Crisponi/cold-induced sweating syndrome 3|CRISPONI/cold-induced sweating syndrome 3	http://purl.obolibrary.org/obo/MONDO_0014890	https://omim.org/entry/617055|UMLS:C4310742|DOID:0080331|Orphanet:603684	
MONDO:0024289	biolink:Disease	obsolete disorder of bilirubin metabolism			mondo.json		http://purl.obolibrary.org/obo/MONDO_0024289		
MONDO:0024288	biolink:Disease	hyperbilirubinemia	A disease characterized by elevated level of the pigment bilirubin in the blood.	SCTID:14783006|UMLS:C0020433|MESH:D006932	mondo.json	bilirubinemia|hyperbilirubinemia	http://purl.obolibrary.org/obo/MONDO_0024288	http://identifiers.org/snomedct/14783006|http://identifiers.org/mesh/D006932|UMLS:C0020433	
MONDO:0024281	biolink:Disease	juvenile chronic polyarthritis	A group of conditions used to describe polyarthritis occurring in children.	NCIT:C26979	mondo.json	juvenile chronic polyarthritis	http://purl.obolibrary.org/obo/MONDO_0024281	NCIT:C26979	
MONDO:0024280	biolink:Disease	polyarticular arthritis	An arthritis affecting five or more separate joints.	NCIT:C26996|SCTID:416956002	mondo.json	polyarticular arthritis|polyarthritis	http://purl.obolibrary.org/obo/MONDO_0024280	NCIT:C26996|http://identifiers.org/snomedct/416956002	
HP:0033127	biolink:PhenotypicFeature	Abnormality of the musculoskeletal system	An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body.		mondo.json		http://purl.obolibrary.org/obo/HP_0033127		
MONDO:0024283	biolink:Disease	Demodex folliculitis	A demodicidosis that involves the hair follicle.	SCTID:240894003|UMLS:C0392666|ICD9:133.8|ICD9:704.8	mondo.json	hair follicle demodicidosis	http://purl.obolibrary.org/obo/MONDO_0024283	http://identifiers.org/snomedct/240894003|UMLS:C0392666	
MONDO:0024282	biolink:Disease	mucinous ovarian cancer	An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma.	NCIT:C40033|ONCOTREE:MOV|UMLS:C1518233	mondo.json	malignant ovarian mucinous tumor|ovarian mucinous neoplasm, malignant|malignant ovarian mucinous neoplasm	http://purl.obolibrary.org/obo/MONDO_0024282	UMLS:C1518233|NCIT:C40033	
MONDO:0024285	biolink:Disease	epsilon-heavy chain disease		ICD9:273.2|UMLS:C0272254|SCTID:60620005	mondo.json	IgE heavy chain disease	http://purl.obolibrary.org/obo/MONDO_0024285	UMLS:C0272254|http://identifiers.org/snomedct/60620005	
MONDO:0024284	biolink:Disease	demodicidosis of sebaceous gland	A demodicidosis that involves the sebaceous gland.		mondo.json	sebaceous gland demodicidosis	http://purl.obolibrary.org/obo/MONDO_0024284		
MONDO:0024287	biolink:Disease	congenital vascular malformation	A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels.	NCIT:C112117	mondo.json	vascular malformation|congenital vascular malformation	http://purl.obolibrary.org/obo/MONDO_0024287	NCIT:C112117	
MONDO:0024286	biolink:Disease	benign blood vessel neoplasm	A benign neoplasm arising from arteries or veins.	UMLS:C0685121|NCIT:C8537	mondo.json	benign blood vessel tumor|benign blood vessel neoplasm	http://purl.obolibrary.org/obo/MONDO_0024286	UMLS:C0685121|NCIT:C8537	
HGNC:15844	biolink:NamedThing	HPS4			mondo.json		http://identifiers.org/hgnc/15844		
HGNC:15840	biolink:NamedThing	KMT2B			mondo.json		http://identifiers.org/hgnc/15840		
MONDO:0024278	biolink:Disease	proctocolitis	Inflammation of the rectum and colon.	SCTID:418130002|MESH:D011350|UMLS:C0033247|NCIT:C77952	mondo.json	proctocolitis|colorectum inflammation|inflammation of colorectum	http://purl.obolibrary.org/obo/MONDO_0024278	NCIT:C77952|http://identifiers.org/snomedct/418130002|http://identifiers.org/mesh/D011350|UMLS:C0033247	
MONDO:0024277	biolink:Disease	neonatal thrombocytopenia		SCTID:82835005|MESH:D054098	mondo.json	neonatal purpura|purpura of newborn|neonatal thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0024277	http://identifiers.org/snomedct/82835005|http://identifiers.org/mesh/D054098	
GO:0000098	biolink:NamedThing	sulfur amino acid catabolic process	The chemical reactions and pathways resulting in the breakdown of amino acids containing sulfur, comprising cysteine, methionine and selenocysteine.		mondo.json	sulfur amino acid breakdown|sulphur amino acid catabolism|sulphur amino acid catabolic process|sulfur amino acid degradation|sulfur amino acid catabolism	http://purl.obolibrary.org/obo/GO_0000098		
MONDO:0024279	biolink:Disease	chronic endometritis	A non-granulomatous or granulomatous chronic inflammation of the endometrium. Causes include sexually transmitted pathogens and gynecological procedures. Patients may present with irregular bleeding.	SCTID:63922003|NCIT:C102820|UMLS:C0238104	mondo.json	chronic endometritis|endometritis, chronic	http://purl.obolibrary.org/obo/MONDO_0024279	NCIT:C102820|UMLS:C0238104|http://identifiers.org/snomedct/63922003	
GO:0051604	biolink:NamedThing	protein maturation	Any process leading to the attainment of the full functional capacity of a protein.		mondo.json		http://purl.obolibrary.org/obo/GO_0051604		
ENVO:01001795	biolink:NamedThing	ecosystem process	An environmental process either driven by or primarily impacting the parts or emergent properties of an ecosystem.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001795		
MONDO:0024270	biolink:Disease	parasitic intestinal disorder	Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS.	UMLS:C0021832|MESH:D007411	mondo.json	intestinal disease, parasitic|parasitic intestinal disease|disease, parasitic intestinal|intestine parasitic infection|diseases, parasitic intestinal|parasitic intestinal diseases	http://purl.obolibrary.org/obo/MONDO_0024270	UMLS:C0021832|http://identifiers.org/mesh/D007411	
GO:0051608	biolink:NamedThing	histamine transport	The directed movement of histamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Histamine is a physiologically active amine, found in plant and animal tissue and released from mast cells as part of an allergic reaction in humans.		mondo.json		http://purl.obolibrary.org/obo/GO_0051608		
GO:0051606	biolink:NamedThing	detection of stimulus	The series of events in which a stimulus is received by a cell or organism and converted into a molecular signal.		mondo.json	stimulus sensing|stimulus detection|perception of stimulus	http://purl.obolibrary.org/obo/GO_0051606		
MONDO:0024271	biolink:Disease	intestinal helminthiasis	A parasitic helminthiasis infectious disease that involves the intestine.	UMLS:C0348287|SCTID:26249004|MESH:C531698	mondo.json	intestine parasitic helminthiasis infectious disease	http://purl.obolibrary.org/obo/MONDO_0024271	UMLS:C0348287|http://identifiers.org/mesh/C531698|http://identifiers.org/snomedct/26249004	
GO:0000096	biolink:NamedThing	sulfur amino acid metabolic process	The chemical reactions and pathways involving amino acids containing sulfur, comprising cysteine, homocysteine, methionine and selenocysteine.		mondo.json	sulfur amino acid metabolism|sulphur amino acid metabolic process|sulphur amino acid metabolism	http://purl.obolibrary.org/obo/GO_0000096		
MONDO:0024276	biolink:Disease	glandular cell neoplasm		NCIT:C7132|HP:0031493|UMLS:C1333820	mondo.json	glandular cell neoplasm|glandular cell epithelium neoplasm|glandular cell tumor|glandular cell epithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0024276	NCIT:C7132|UMLS:C1333820	
MONDO:0024275	biolink:Disease	amebic dysentery	Dysentery caused by intestinal amebic infection, chiefly with entamoeba histolytica. This condition may be associated with amebic infection of the liver and other distant sites.	GARD:0000652|NCIT:C34558|MESH:D004404	mondo.json	colitis, amebic|Amebiases, intestinal|Colitides, amebic|amoebiasis due to Entamoeba histolytica|entamoebiasis, intestinal|intestinal Entamoebiases|dysenteries, amoebic|amoebic dysentery|amebic colitis|amebic colitides|amebiasis, intestinal|intestinal Amebiases|amoebic dysentery due to Entamoeba histolytica|intestinal entamoebiasis|dysentery, amoebic|amoebic dysenteries|amebic dysentery|amoebiases, intestinal|dysenteries, amebic|Colitides, amoebic|intestinal Amoebiases|colitis, amoebic|intestinal amebiasis|amoebiasis, intestinal|amebic dysenteries|amoebic colitis|Entamoebiases, intestinal|intestinal amoebiasis|amoebic Colitides	http://purl.obolibrary.org/obo/MONDO_0024275	http://identifiers.org/mesh/D004404|NCIT:C34558	gard_rare
MONDO:0012298	biolink:Disease	omphalocele, diaphragmatic hernia, and radial ray defects		GARD:0010354|UMLS:C1836007|OMIM:609545|MESH:C563701	mondo.json	Gershoni-Baruch syndrome|omphalocele, diaphragmatic hernia, and radial ray defects	http://purl.obolibrary.org/obo/MONDO_0012298	UMLS:C1836007|http://identifiers.org/mesh/C563701|https://omim.org/entry/609545	
MONDO:0012299	biolink:Disease	nanophthalmos 2	Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene.	OMIM:609549|UMLS:C1836006|MESH:C563700	mondo.json	nanophthalmos, autosomal recessive|MFRP nanophthalmia|NNO2|nanophthalmos type 2|Nanophthalmia 2|nanophthalmia caused by mutation in MFRP|nanophthalmos 2	http://purl.obolibrary.org/obo/MONDO_0012299	UMLS:C1836006|http://identifiers.org/mesh/C563700|https://omim.org/entry/609549	
HGNC:15853	biolink:NamedThing	ARFGEF2			mondo.json		http://identifiers.org/hgnc/15853		
MONDO:0012292	biolink:Disease	hepatitis C virus, susceptibility to		UMLS:C2750389|OMIM:609532	mondo.json	hepatitis C virus, response to therapy of|hepatitis C virus, susceptibility to|Hepatitis C Virus infection, response to therapy of|Hepatitis C Virus, resistance to|HCV, resistance to|HCV, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0012292	UMLS:C2750389|https://omim.org/entry/609532	predisposition
MONDO:0012293	biolink:Disease	autosomal recessive nonsyndromic hearing loss 23	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene.	UMLS:C1836027|MESH:C563705|DOID:0110481|OMIM:609533	mondo.json	autosomal recessive nonsyndromic deafness caused by mutation in PCDH15|deafness, autosomal recessive 23|PCDH15 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 23|autosomal recessive deafness 23|autosomal recessive nonsyndromic deafness type 23|DFNB23|autosomal recessive nonsyndromic deafness 23	http://purl.obolibrary.org/obo/MONDO_0012293	DOID:0110481|UMLS:C1836027|http://identifiers.org/mesh/C563705|https://omim.org/entry/609533	
MONDO:0012290	biolink:Disease	CEDNIK syndrome	CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.	GARD:0009940|MESH:C537943|OMIM:609528|Orphanet:66631|UMLS:C1836033|DOID:0060337|SCTID:722385008	mondo.json	cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome|CEDNIK syndrome|cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	http://purl.obolibrary.org/obo/MONDO_0012290	UMLS:C1836033|DOID:0060337|Orphanet:66631|http://identifiers.org/snomedct/722385008|https://omim.org/entry/609528|http://identifiers.org/mesh/C537943	ordo_disease
MONDO:0012291	biolink:Disease	immunoglobulin A deficiency 2	Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene.	MESH:C536291|UMLS:C1836032|OMIM:609529|GARD:0010198	mondo.json	TNFRSF13B selective IgA deficiency disease|IGAD2|selective IgA deficiency disease caused by mutation in TNFRSF13B|Immunoglobulin a deficiency type 2|Immunoglobulin A, selective deficiency of, TACI-related|IMMUNOGLOBULIN A deficiency 2|IgA, selective deficiency of, TACI-related|immunoglobulin a deficiency 2|Immunoglobulin A, selective deficiency of, TACI related|IgA, selective deficiency of, TACI related	http://purl.obolibrary.org/obo/MONDO_0012291	UMLS:C1836032|https://omim.org/entry/609529|http://identifiers.org/mesh/C536291	gard_rare
MONDO:0012296	biolink:Disease	lipomyelomeningocele	Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome.	OMIM:609537|GARD:0010053|ICD9:214.8|MESH:C537030|Orphanet:268835|SCTID:104431000119107|UMLS:C1836022	mondo.json	lipomyelomeningocele|familial lipomyelomeningocele	http://purl.obolibrary.org/obo/MONDO_0012296	http://identifiers.org/snomedct/104431000119107|UMLS:C1836022|https://omim.org/entry/609537|http://identifiers.org/mesh/C537030|Orphanet:268835	ordo_morphological_anomaly|gard_rare
MONDO:0012297	biolink:Disease	SPOAN syndrome	A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.	DOID:0060491|MESH:C563702|Orphanet:320406|UMLS:C1836010|OMIM:609541	mondo.json	SPOAN|spastic paraplegia, optic atropy, and neuropathy syndrome|spastic paraplegia, optic atrophy, and neuropathy|spastic paraplegia-optic atrophy-neuropathy syndrome|spastic paraplegia, optic atropy, and neuropathy	http://purl.obolibrary.org/obo/MONDO_0012297	UMLS:C1836010|DOID:0060491|http://identifiers.org/mesh/C563702|https://omim.org/entry/609541|Orphanet:320406	ordo_disease
ENVO:01001790	biolink:NamedThing	terrestrial ecosystem			mondo.json		http://purl.obolibrary.org/obo/ENVO_01001790		
MONDO:0012294	biolink:Disease	obsolete drug metabolism, poor, Cyp2C19-related		OMIM:609535|GARD:0012906|UMLS:C1836023	mondo.json	clopidogrel, poor metabolism of|omeprazole poor metabolizer|Proguanil, poor metabolism of|proguanil poor metabolizer|Opremazole, poor metabolism of|Omeprazole, poor metabolism of|clopidogrel, impaired responsiveness to|mephenytoin poor metabolizer|Mephenytoin, poor metabolism of|drug metabolism, poor, Cyp2C19-related	http://purl.obolibrary.org/obo/MONDO_0012294	UMLS:C1836023|https://omim.org/entry/609535	
CHR:9606-chr2p16.3	biolink:NamedThing	2p16.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr2p16.3		
MONDO:0012295	biolink:Disease	complement component 5 deficiency	A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections.	OMIM:609536|DOID:8158|UMLS:C0343047|NCIT:C9469|GARD:0006878	mondo.json	complement component 5 deficiency|complement deficiency caused by mutation in C5|C5D|dysfunction of the fifth component of complement (C5)|C5 complement deficiency|C5 deficiency	http://purl.obolibrary.org/obo/MONDO_0012295	https://omim.org/entry/609536|DOID:8158|UMLS:C0343047|NCIT:C9469	
MONDO:0024267	biolink:Disease	obsolete epidemic encephalitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0024267		
MONDO:0024266	biolink:Disease	patent ductus arteriosus 3	Any patent ductus arteriosus in which the cause of the disease is a mutation in the PRDM6 gene.	OMIM:617039	mondo.json	PDA3|patent ductus arteriosus caused by mutation in PRDM6|patent ductus arteriosus 3|PRDM6 patent ductus arteriosus	http://purl.obolibrary.org/obo/MONDO_0024266	https://omim.org/entry/617039	
MONDO:0000299	biolink:Disease	thelaziasis	A disease caused by infection with Thelazia.	UMLS:C0344058|ICD9:128.8|DOID:0050261|SCTID:46477004	mondo.json	conjunctival spirurosis|thelaziasis|thelaziosis|verminous ophthalmia|Thelazia infectious disease|infection by Thelazia|Thelazia caused disease or disorder|infection caused by Thelazia|Thelazia disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000299	DOID:0050261|http://identifiers.org/snomedct/46477004|UMLS:C0344058	
MONDO:0000298	biolink:Disease	dioctophymiasis	A disease caused by infection with Dioctophyme renale.	SCTID:40410004|UMLS:C0012482|DOID:0050260	mondo.json	Dioctophyme renale infection|dioctophyma renale infection|Dioctophyme renale infectious disease|Dioctophyme renale caused disease or disorder|dioctophymosis|Dioctophyme renale disease or disorder|giant kidney worm disease	http://purl.obolibrary.org/obo/MONDO_0000298	DOID:0050260|http://identifiers.org/snomedct/40410004|UMLS:C0012482	
MONDO:0024269	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0024269		
MONDO:0024268	biolink:Disease	superficial mycosis	A mycosis that is limited to the stratum corneum and essentially elicits no inflammation.	ICD9:117.9|DOID:0050133|UMLS:C2980104|SCTID:276206000	mondo.json	steroid-modified tinea infection|stratum corneum of epidermis fungal infectious disease|piedra	http://purl.obolibrary.org/obo/MONDO_0024268	UMLS:C2980104|DOID:0050133|http://identifiers.org/snomedct/276206000	
MONDO:0000297	biolink:Disease	baylisascariasis	An infection that is caused by the raccoon nematode Baylisascaris procyonis, which is transmitted by the ingestion of embryonated eggs in contaminated soil; symptoms depend on larval migration sites (visceral organs, eye, or brain) provoking severe inflammatory responses.	DOID:0050259|UMLS:C0162626|NCIT:C128397|UMLS:C0277150	mondo.json	Baylisascaris procyonis infectious disease|Baylisascaris procyonis caused disease or disorder|Baylisascaris procyonis disease or disorder|raccoon roundworm infection	http://purl.obolibrary.org/obo/MONDO_0000297	UMLS:C0162626|UMLS:C0277150|DOID:0050259|NCIT:C128397	
UBERON:5001466	biolink:AnatomicalEntity	pedal digit plus metapodial segment			mondo.json		http://purl.obolibrary.org/obo/UBERON_5001466		
MONDO:0000292	biolink:Disease	philophthalmiasis	A disease caused by infection with Philophthalmus.	DOID:0050250	mondo.json	Philophthalmus disease or disorder|Philophthalmus infectious disease|Philophthalmus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000292	DOID:0050250	
MONDO:0000291	biolink:Disease	granulomatous amebic encephalitis	Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised peple and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors.	DOID:0050246|SCTID:230187000|GARD:0012651|UMLS:C0338428|ICD9:323.2	mondo.json	Acanthamoeba granulomatous encephalitis|granulomatous amoebic encephalitis|Acanthamoeba encephalitis|granulomatous amebic encephalitis due to Acanthamoeba	http://purl.obolibrary.org/obo/MONDO_0000291	UMLS:C0338428|http://identifiers.org/snomedct/230187000|DOID:0050246	gard_rare
MONDO:0000290	biolink:Disease	primary amebic meningoencephalitis	A infectious disease involving the Naegleria fowleri.	DOID:0050242|UMLS:C0300934|MESH:C535275|GARD:0009554|SCTID:721816008|UMLS:C4303098	mondo.json	Naegleria fowleri infection|infections, Naegleria fowleri	http://purl.obolibrary.org/obo/MONDO_0000290	http://identifiers.org/mesh/C535275|UMLS:C0300934|http://identifiers.org/snomedct/721816008|DOID:0050242|UMLS:C4303098	
MONDO:0000296	biolink:Disease	obsolete angiostrongyliasis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000296		
MONDO:0024263	biolink:Disease	neonatal aspiration syndrome	Aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn.	UMLS:C0349468|NCIT:C118312|SCTID:276533002	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024263	UMLS:C0349468|http://identifiers.org/snomedct/276533002|NCIT:C118312	
MONDO:0000295	biolink:Disease	acanthocephaliasis	An disease or disorder caused by infection with Acanthocephala.	SCTID:105713003|DOID:0050254|UMLS:C0277331	mondo.json	infection by Acanthocephala|Acanthocephala disease or disorder|disease caused by Acanthocephala|disease due to Acanthocephala|infection by thorny-headed worm|Acanthocephala infectious disease|Acanthocephala caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000295	DOID:0050254|UMLS:C0277331|http://identifiers.org/snomedct/105713003	
MONDO:0024262	biolink:Disease	massive neonatal aspiration syndrome		SCTID:10269001	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024262	http://identifiers.org/snomedct/10269001	
MONDO:0000294	biolink:Disease	mesocestoidiasis	An disease or disorder caused by infection with Mesocestoides.	UMLS:C0277110|DOID:0050253|UMLS:C0277108|SCTID:85750001	mondo.json	infection caused by Mesocestoides|Mesocestoides disease or disorder|infection by Mesocestoides|Mesocestoides infectious disease|Mesocestoides caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000294	http://identifiers.org/snomedct/85750001|UMLS:C0277110|UMLS:C0277108|DOID:0050253	
MONDO:0024265	biolink:Disease	Duane syndrome type 1	Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). Treatment is mainly supportive and may include glasses or contact lenses for vision correction, eye patches, or surgery.	GARD:0010763|SCTID:128082002|OMIM:126800	mondo.json	Duane syndrome|retraction syndrome|Duane anomaly|Duane retraction syndrome 1|Drs|DURS1	http://purl.obolibrary.org/obo/MONDO_0024265	http://identifiers.org/snomedct/128082002|https://omim.org/entry/126800	gard_rare
MONDO:0024264	biolink:Disease	hypothyroidism, congenital, nongoitrous, 2	A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13.	MESH:C566852|DOID:0070124|Orphanet:95719|Orphanet:95713|Orphanet:95712|OMIM:218700|Orphanet:95720	mondo.json	thyroid agenesis|hypothyroidism, congenital, nongoitrous, 2|thyroid hypoplasia|congenital nongoitrous hypothyroidism 2|resistance to thyrotropin|congenital nongoitrous hypothryoidism 2|CHNG2|hypothyroidism, congenital, due to thyroid dysgenesis|thyrotropin resistance|hypothyroidism, athyreotic|congenital hypothyroidism due to thyroid dysgenesis or hypoplasia|thyroid, ectopic|athyreotic hypothyroidism|hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia|thyroid dysgenesis	http://purl.obolibrary.org/obo/MONDO_0024264	http://identifiers.org/mesh/C566852|https://omim.org/entry/218700|DOID:0070124	
MONDO:0000293	biolink:Disease	coenurosis	A parasitic infection that develops in the intermediate hosts of some tapeworm species (Taenia multiceps, T. serialis, T. brauni, or T. glomerata) and are caused by the coenurus, the larval stage of these worms. This disease occurs mainly in sheep and other ungulates, but occasionally can occur in humans too by accidental ingestion of worms' eggs.	UMLS:C0009225|DOID:0050251|ICD9:123.8|SCTID:24360007	mondo.json	sturdy|infection by larvae of multiceps|infection by tapeworm larva|coenuriasis|caenurosis|coenurosis	http://purl.obolibrary.org/obo/MONDO_0000293	http://identifiers.org/snomedct/24360007|UMLS:C0009225|DOID:0050251	
MONDO:0012289	biolink:Disease	myofibrillar myopathy 5	Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.	MESH:C537932|DOID:0080096|OMIM:609524|Orphanet:171445	mondo.json	myofibrillar myopathy 5|myofibrillar myopathy (disease) caused by mutation in FLNC|myopathy, myofibrillar, type 5|filaminopathy|muscle filaminopathy|myopathy, myofibrillar, 5|FLNC myofibrillar myopathy (disease)|myopathy, myofibrillar, filamin C-related|myofibrillar myopathy type 5|MFM5|filaminopathy, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012289	http://identifiers.org/mesh/C537932|https://omim.org/entry/609524|Orphanet:171445|DOID:0080096	ordo_disease
MONDO:0036212	biolink:Disease	spastic paraparesis-cataracts-speech delay syndrome		Orphanet:615938	mondo.json	Fatty acyl-CoA reductase 1 superactivity	http://purl.obolibrary.org/obo/MONDO_0036212	Orphanet:615938	ordo_disorder
MONDO:0012287	biolink:Disease	Stickler syndrome, type I, nonsyndromic ocular		OMIM:609508|MESH:C563709|UMLS:C1836080	mondo.json	rhegmatogenous retinal detachment, autosomal dominant|Stickler syndrome, type I, predominantly ocular|Stickler syndrome, type i, nonsyndromic ocular|Stickler syndrome, atypical	http://purl.obolibrary.org/obo/MONDO_0012287	UMLS:C1836080|http://identifiers.org/mesh/C563709|https://omim.org/entry/609508	
MONDO:0012288	biolink:Disease	iridogoniodysgenesis and skeletal anomalies		UMLS:C1836074|GARD:0010058|MESH:C535534|OMIM:609515	mondo.json	iridogoniodysgenesis and skeletal anomalies	http://purl.obolibrary.org/obo/MONDO_0012288	http://identifiers.org/mesh/C535534|UMLS:C1836074|https://omim.org/entry/609515	gard_rare
MONDO:0036217	biolink:Disease	lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation		Orphanet:615983	mondo.json		http://purl.obolibrary.org/obo/MONDO_0036217	Orphanet:615983	ordo_subtype_of_a_disorder
MONDO:0036218	biolink:Disease	lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster		Orphanet:615986	mondo.json	Lethal 1p36.33 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0036218	Orphanet:615986	ordo_subtype_of_a_disorder
MONDO:0012281	biolink:Disease	obsolete sarcoidosis, early-onset			mondo.json		http://purl.obolibrary.org/obo/MONDO_0012281		
MONDO:0012282	biolink:Disease	Al-Gazali syndrome	An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality.	GARD:0010054|OMIM:609465|UMLS:C1836121|Orphanet:2725|MESH:C536817	mondo.json	Al Gazali syndrome|eye defects arachnodactyly cardiopathy|Al Gazali Al Talabani syndrome|Al-Gazali syndrome	http://purl.obolibrary.org/obo/MONDO_0012282	http://identifiers.org/mesh/C536817|UMLS:C1836121|https://omim.org/entry/609465|Orphanet:2725	gard_rare|ordo_malformation_syndrome
MONDO:0012280	biolink:Disease	Goldberg-Shprintzen megacolon syndrome	Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.	OMIM:609460|SCTID:717822006|DOID:0060481|MESH:C537279|Orphanet:66629|GARD:0009849|UMLS:C1836123	mondo.json	megacolon-microcephaly syndrome|GOSHS|Goldberg-Shprintzen megacolon syndrome|Goldberg-Shprintzen syndrome	http://purl.obolibrary.org/obo/MONDO_0012280	UMLS:C1836123|DOID:0060481|Orphanet:66629|https://omim.org/entry/609460|http://identifiers.org/mesh/C537279|http://identifiers.org/snomedct/717822006	ordo_malformation_syndrome
MONDO:0012285	biolink:Disease	left ventricular noncompaction 2		OMIM:609470|UMLS:C1836118	mondo.json	left ventricular noncompaction 2|LVNC2	http://purl.obolibrary.org/obo/MONDO_0012285	UMLS:C1836118|https://omim.org/entry/609470	
MONDO:0012286	biolink:Disease	myopathy, autophagic vacuolar, infantile-onset		OMIM:609500	mondo.json	myopathy, autophagic vacuolar, infantile-onset	http://purl.obolibrary.org/obo/MONDO_0012286	https://omim.org/entry/609500	
MONDO:0012283	biolink:Disease	cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss		GARD:0010063|OMIM:609466|UMLS:C1836120|MESH:C536427	mondo.json	cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss	http://purl.obolibrary.org/obo/MONDO_0012283	http://identifiers.org/mesh/C536427|UMLS:C1836120|https://omim.org/entry/609466	gard_rare
MONDO:0012284	biolink:Disease	nephropathy, progressive, with deafness		UMLS:C1836119|OMIM:609469|MESH:C563713	mondo.json	Alport/focal segmental glomerulosclerosis-like syndrome|nephropathy, progressive, with deafness|Nede	http://purl.obolibrary.org/obo/MONDO_0012284	UMLS:C1836119|http://identifiers.org/mesh/C563713|https://omim.org/entry/609469	
MONDO:0024255	biolink:Disease	obsolete genetic skin disease	OBSOLETE. An instance of skin disease that is caused by a modification of the individual's genome.	SCTID:239001006|MESH:D012873	mondo.json	diseases, genetic skin|skin disease, genetic|genodermatosis|disease, genetic skin|genetic skin diseases|genetic skin disease	http://purl.obolibrary.org/obo/MONDO_0024255	http://identifiers.org/snomedct/239001006|http://identifiers.org/mesh/D012873	
MONDO:0024257	biolink:Disease	hereditary motor neuron disease	An instance of motor neuron disease that is caused by an inherited modification of the individual's genome.	Orphanet:98505|SCTID:49793008|UMLS:CN207018	mondo.json	genetic anterior horn cell disease|hereditary motor neuron disease|genetic motor neuron disease	http://purl.obolibrary.org/obo/MONDO_0024257	http://identifiers.org/snomedct/49793008|Orphanet:98505|UMLS:CN207018	disease_grouping|ordo_group_of_disorders
NCBITaxon:12103	biolink:OrganismalEntity	Cardiovirus		GC_ID:1	mondo.json	Cardioviruses	http://purl.obolibrary.org/obo/NCBITaxon_12103		
GO:0000070	biolink:NamedThing	mitotic sister chromatid segregation	The cell cycle process in which replicated homologous chromosomes are organized and then physically separated and apportioned to two sets during the mitotic cell cycle. Each replicated chromosome, composed of two sister chromatids, aligns at the cell equator, paired with its homologous partner. One homolog of each morphologic type goes into each of the resulting chromosome sets.		mondo.json	mitotic sister-chromatid adhesion release|mitotic chromosome segregation	http://purl.obolibrary.org/obo/GO_0000070		
MONDO:0024250	biolink:Disease	acute lichenoid pityriasis		SCTID:86487001|ICD9:696.5	mondo.json	Mucha-Habermann disease|PLEVA|Mucha Habermann disease|disease, Habermann|mucha-habermann syndrome|Habermann disease|disease, Habermann's|Habermanns disease|mucha-habermann disease|Habermann's disease|parapsoriasis lichenoides et varioliformis acuta|mucha habermann disease|disease, Mucha-Habermann|parapsoriasis varioliformis acuta	http://purl.obolibrary.org/obo/MONDO_0024250	http://identifiers.org/snomedct/86487001	
MONDO:0024252	biolink:Disease	global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome		Orphanet:488613|OMIM:616973	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024252	Orphanet:488613	ordo_malformation_syndrome
MONDO:0024251	biolink:Disease	Minamata disease	A neurological syndrome caused by severe mercury poisoning.	SCTID:39640004|UMLS:CN200665	mondo.json	Chisso-Minamata disease	http://purl.obolibrary.org/obo/MONDO_0024251	UMLS:CN200665|http://identifiers.org/snomedct/39640004	
MONDO:0024254	biolink:Disease	obsolete vibratory angioedema			mondo.json		http://purl.obolibrary.org/obo/MONDO_0024254		
MONDO:0024253	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0024253		
MONDO:0012278	biolink:Disease	supranuclear palsy, progressive, 2		UMLS:C1836148|MESH:C563717|OMIM:609454	mondo.json	supranuclear palsy, progressive, 2|PSNP2	http://purl.obolibrary.org/obo/MONDO_0012278	UMLS:C1836148|http://identifiers.org/mesh/C563717|https://omim.org/entry/609454	
HGNC:15836	biolink:NamedThing	PROKR2			mondo.json		http://identifiers.org/hgnc/15836		
MONDO:0012279	biolink:Disease	congenital muscular dystrophy merosin-positive	The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities (Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome). Therefore, merosin-positive congenital muscle dystrophy (CMD) is now considered an old term which refers to a group of diseases without structural brain abnormalities that are caused by a variety of gene mutations, resulting in protein defects that do not affect the merosin protein. Itusually has a milder phenotype than the merosin-negative CMD dystrophy group and includes, among others: Classic CMD without distinguishing features Rigid spine syndrome associated with mutations in the selenoprotein N1 gene (SEPN1) CMD with hyperextensible distal joints (Ullrich type) CMD with intellectual disability or sensory abnormalities. The pattern of muscle weakness and wasting in the patients within this group of congenital muscular dystrophy conditions is worse in the proximal upper limb-girdle and trunk muscles. Lower limb muscles may be mildly involved. Muscle biopsy shows a dystrophic pattern with normal staining for dystrophin, laminin alpha-2 of merosin and the sarcoglycans.	DOID:0110638|GARD:0003855|OMIM:609456|MESH:C563716|UMLS:C1836133	mondo.json	muscular dystrophy, congenital, merosin-POSITIVE	http://purl.obolibrary.org/obo/MONDO_0012279	DOID:0110638|UMLS:C1836133|http://identifiers.org/mesh/C563716|https://omim.org/entry/609456	gard_rare
MONDO:0012276	biolink:Disease	generalized epilepsy-paroxysmal dyskinesia syndrome	Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.	UMLS:C1836173|MESH:C563719|Orphanet:79137|OMIM:609446	mondo.json	epilepsy, generalized, with paroxysmal dyskinesia|GEPD|PNKD3|generalized epilepsy and paroxysmal dyskinesia|paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy	http://purl.obolibrary.org/obo/MONDO_0012276	Orphanet:79137|UMLS:C1836173|http://identifiers.org/mesh/C563719|https://omim.org/entry/609446	ordo_disease
MONDO:0012277	biolink:Disease	myofibrillar myopathy 4	Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.	OMIM:609452|GARD:0001886|MESH:C563718|DOID:0080095|Orphanet:98912|UMLS:C1836155	mondo.json	myofibrillar myopathy type 4|late-onset distal myopathy, Markesbery-Griggs type|myofibrillar myopathy (disease) caused by mutation in LDB3|MFM4|LDB3 myofibrillar myopathy (disease)|zaspopathy|ZASP-related myofibrillar myopathy|myopathy, myofibrillar, type 4|myopathy, myofibrillar, 4	http://purl.obolibrary.org/obo/MONDO_0012277	DOID:0080095|Orphanet:98912|UMLS:C1836155|http://identifiers.org/mesh/C563718|https://omim.org/entry/609452	ordo_disease
HGNC:15832	biolink:NamedThing	BSCL2			mondo.json		http://identifiers.org/hgnc/15832		
CHEBI:75381	biolink:ChemicalSubstance	EC 1.11.1.* (peroxidases) inhibitor	An EC 1.11.* (oxidoreductase acting on peroxide as donors) inhibitor that interferes with the action of any of the peroxidases (EC 1.11.1.*).		mondo.json	inhibitors of peroxidases|inhibitor of peroxidases|EC 1.11.1 inhibitor|EC 1.11.1.* (peroxidases) inhibitors|EC 1.11.1.* inhibitors|EC 1.11.1.* (peroxidase) inhibitor|peroxidases inhibitors|EC 1.11.1.* (peroxidase) inhibitors|EC 1.11.1.* inhibitor|EC 1.11.1 inhibitors	http://purl.obolibrary.org/obo/CHEBI_75381		
MONDO:0012270	biolink:Disease	Tukel syndrome		GARD:0009814|OMIM:609428|UMLS:C1836217|MESH:C536925	mondo.json	Tukel syndrome|fibrosis of extraocular muscles, congenital, 4|fibrosis of extraocular muscles, congenital, with ulnar hand anomalies|congenital extraocular muscle fibrosis with ulnar hand anomalies|Cfeom-U	http://purl.obolibrary.org/obo/MONDO_0012270	http://identifiers.org/mesh/C536925|UMLS:C1836217|https://omim.org/entry/609428	
MONDO:0012271	biolink:Disease	mesoaxial synostotic syndactyly with phalangeal reduction	Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.	UMLS:C1836206|GARD:0010590|Orphanet:157801|OMIM:609432|SCTID:724170007|MESH:C563721	mondo.json	syndactyly type 9|syndactyly, mesoaxial synostotic, with phalangeal reduction|syndactyly Malik-Percin type|syndactyly, type 9|syndactyly, Malik-Percin type|syndactyly mesoaxial synostotic with phalangeal reduction|MSSD	http://purl.obolibrary.org/obo/MONDO_0012271	http://identifiers.org/snomedct/724170007|UMLS:C1836206|Orphanet:157801|http://identifiers.org/mesh/C563721|https://omim.org/entry/609432	ordo_morphological_anomaly
UBERON:5001463	biolink:AnatomicalEntity	manual digit 1 plus metapodial segment			mondo.json		http://purl.obolibrary.org/obo/UBERON_5001463		
MONDO:0012274	biolink:Disease	acromesomelic dysplasia 3		GARD:0010077|OMIM:609441|MESH:C537913	mondo.json	chondrodysplasia, acromesomelic, with or without genital anomalies|AMDD|acromesomelic dysplasia, Demirhan type|chondrodysplasia acromesomelic with genital anomalies|acromesomelic dysplasia 3	http://purl.obolibrary.org/obo/MONDO_0012274	http://identifiers.org/mesh/C537913|https://omim.org/entry/609441	gard_rare
MONDO:0012275	biolink:Disease	fetal valproate syndrome	Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication).	OMIM:609442|MedDRA:10016524|GARD:0005447|MESH:C536525|DOID:0060471|NCIT:C98930|Orphanet:1906|UMLS:C0236026|ICD9:759.89|SCTID:17231009	mondo.json	fetal valproate syndrome|valproate embryopathy, susceptibility to|FVS|valproic acid embryopathy|susceptibility to valproate embryopathy|fetal valproic acid syndrome	http://purl.obolibrary.org/obo/MONDO_0012275	http://identifiers.org/mesh/C536525|Orphanet:1906|DOID:0060471|http://identifiers.org/snomedct/17231009|NCIT:C98930|https://omim.org/entry/609442|UMLS:C0236026	gard_rare|ordo_malformation_syndrome
MONDO:0012272	biolink:Disease	intellectual disability, keratoconus, febrile seizures, and sinoatrial block		OMIM:609438|GARD:0010064|MESH:C537452|UMLS:C1836202	mondo.json	intellectual disability, keratoconus, febrile seizures, and sinoatrial block|mental retardation, keratoconus, febrile seizures, and sinoatrial block	http://purl.obolibrary.org/obo/MONDO_0012272	UMLS:C1836202|https://omim.org/entry/609438|http://identifiers.org/mesh/C537452	gard_rare
MONDO:0012273	biolink:Disease	autosomal recessive nonsyndromic hearing loss 48	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene.	DOID:0110505|MESH:C563720|UMLS:C1836199|OMIM:609439	mondo.json	deafness, autosomal recessive type 48|autosomal recessive nonsyndromic deafness type 48|autosomal recessive nonsyndromic deafness 48|autosomal recessive deafness 48|autosomal recessive nonsyndromic deafness caused by mutation in CIB2|DFNB48|CIB2 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 48	http://purl.obolibrary.org/obo/MONDO_0012273	DOID:0110505|UMLS:C1836199|http://identifiers.org/mesh/C563720|https://omim.org/entry/609439	
MONDO:0002732	biolink:Disease	lung benign neoplasm	A non-metastasizing neoplasm that arises from the lung parenchyma or the bronchi. Representative examples include lung adenoma, lung hamartoma, and endobronchial lipoma.	DOID:3683|NCIT:C4454	mondo.json	benign tumor of lung|benign tumor of the lung|lung benign neoplasm|benign neoplasm of lung|benign lung tumor|benign neoplasm of the lung|benign lung neoplasm|tumor of the lung	http://purl.obolibrary.org/obo/MONDO_0002732	DOID:3683|NCIT:C4454	
NCBITaxon:2732525	biolink:OrganismalEntity	Pokkesviricetes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732525		
MONDO:0002733	biolink:Disease	obsolete MONDO:0002733			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002733		
MONDO:0002734	biolink:Disease	anal mucinous adenocarcinoma	An anal adenocarcinoma characterized by the presence of mucoid stroma formation.	NCIT:C5606|DOID:3691|UMLS:C1332272	mondo.json	anus mucinous adenocarcinoma|anal colloidal adenocarcinoma|mucinous adenocarcinoma of anus|anal mucinous adenocarcinoma|colloidal adenocarcinoma of anus|anal colloid adenocarcinoma|colloidal adenocarcinoma of the anus|mucinous adenocarcinoma of the anus|colloid adenocarcinoma of anus|colloid adenocarcinoma of the anus	http://purl.obolibrary.org/obo/MONDO_0002734	DOID:3691|NCIT:C5606|UMLS:C1332272	
MONDO:0002735	biolink:Disease	anal canal adenocarcinoma	An anal adenocarcinoma arising from the anal canal mucosa. Morphologically, it resembles the adenocarcinoma which arises from the colorectal glandular epithelium. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding.	UMLS:C1332259|Orphanet:424016|NCIT:C7471|DOID:3692|HP:0030439|SCTID:764845008	mondo.json	anal canal adenocarcinoma (disease)|adenocarcinoma arising in the anal mucosa|adenocarcinoma arising in anal mucosa|anal canal adenocarcinoma|adenocarcinoma of anal canal|adenocarcinoma of the anal canal	http://purl.obolibrary.org/obo/MONDO_0002735	NCIT:C7471|DOID:3692|http://identifiers.org/snomedct/764845008|Orphanet:424016|UMLS:C1332259	ordo_disease
NCBITaxon:36362	biolink:OrganismalEntity	Polyomavirus sp.		GC_ID:1	mondo.json	Polyomavirus|Polyomaviruses	http://purl.obolibrary.org/obo/NCBITaxon_36362		
NCBITaxon:2732529	biolink:OrganismalEntity	Tectiliviricetes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732529		
MONDO:0002730	biolink:Disease	childhood kidney neoplasm	A kidney neoplasm that occurs during childhood.	NCIT:C6563|DOID:3675|UMLS:C1333003	mondo.json	kidney neoplasm|childhood renal tumor|pediatric kidney tumor|childhood renal neoplasm|kidney neoplasm of childhood|childhood kidney neoplasm|childhood kidney tumor|pediatric kidney neoplasm|pediatric renal tumor|pediatric renal neoplasm	http://purl.obolibrary.org/obo/MONDO_0002730	DOID:3675|NCIT:C6563|UMLS:C1333003	
CHEBI:28965	biolink:ChemicalSubstance	dicarboxylic acid dianion	A carboxylic acid dianion obtained by deprotonation of both carboxy groups of any dicarboxylic acid.		mondo.json	a dicarboxylate|dicarboxylate|dicarboxylates|dicarboxylic acid dianion|dicarboxylic acid dianions	http://purl.obolibrary.org/obo/CHEBI_28965		
MONDO:0002731	biolink:Disease	cerebral hemisphere cancer	A cancer that involves the cerebral hemisphere.	DOID:368|ICD9:191.8|NCIT:C4577|SCTID:429033009	mondo.json	cerebrum cancer|malignant cerebral neoplasm|malignant neoplasm of cerebral hemisphere|telencephalon cancer|malignant tumor of cerebrum|tumor of cerebrum|malignant tumor of cerebral hemispheres|malignant cerebral hemisphere neoplasm|malignant tumor of the cerebral hemispheres|malignant tumor of the cerebrum|malignant telencephalon neoplasm|malignant cerebral tumor|cancer of telencephalon|malignant neoplasm of cerebrum|cancer of cerebral hemisphere|malignant neoplasm of cerebral hemispheres|malignant neoplasm of the cerebral hemispheres|malignant neoplasm of the cerebrum|malignant cerebral hemispheric neoplasm|cerebral cancer|malignant cerebral hemispheric tumor|malignant neoplasm of telencephalon	http://purl.obolibrary.org/obo/MONDO_0002731	NCIT:C4577|http://identifiers.org/snomedct/429033009|DOID:368	
NCBITaxon:2732527	biolink:OrganismalEntity	Chitovirales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732527		
MONDO:0014718	biolink:Disease	developmental and epileptic encephalopathy, 34	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene.	OMIM:616645|UMLS:C4225257|DOID:0080460	mondo.json	DEE34|EIEE34|epileptic encephalopathy, early infantile, 34|epileptic encephalopathy, early infantile, 34; EIEE34|SLC12A5 early infantile epileptic encephalopathy|developmental and epileptic encephalopathy 34|epileptic encephalopathy, early infantile, type 34|early infantile epileptic encephalopathy caused by mutation in SLC12A5	http://purl.obolibrary.org/obo/MONDO_0014718	DOID:0080460|UMLS:C4225257|https://omim.org/entry/616645	
MONDO:0014717	biolink:Disease	early-onset Lafora body disease	Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.	Orphanet:324290|UMLS:C4225258|SCTID:733082001|UMLS:C4518574|DOID:0111445|OMIM:616640	mondo.json	epilepsy, progressive myoclonic, 10|epilepsy, progressive myoclonic, type 10|EPM10	http://purl.obolibrary.org/obo/MONDO_0014717	http://identifiers.org/snomedct/733082001|UMLS:C4225258|DOID:0111445|https://omim.org/entry/616640|Orphanet:324290|UMLS:C4518574	ordo_disease
MONDO:0014716	biolink:Disease	macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others.	OMIM:616638|EFO:0009050|UMLS:C4225259|Orphanet:457485	mondo.json	macrocephaly, seizures, mental retardation, umbilical hernia, and Facial Dysmorphism|SMITH-Kingsmore syndrome|macrocephaly, seizures, intellectual disability, umbilical hernia, and Facial Dysmorphism|SKS|MINDS syndrome|Smith-Kingsmore syndrome	http://purl.obolibrary.org/obo/MONDO_0014716	UMLS:C4225259|https://omim.org/entry/616638|Orphanet:457485	ordo_malformation_syndrome
GO:0097194	biolink:NamedThing	execution phase of apoptosis	A stage of the apoptotic process that starts with the controlled breakdown of the cell through the action of effector caspases or other effector molecules (e.g. cathepsins, calpains etc.). Key steps of the execution phase are rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.		mondo.json	apoptosis|execution phase of apoptotic process	http://purl.obolibrary.org/obo/GO_0097194		
UBERON:0035322	biolink:AnatomicalEntity	right common iliac artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035322		
MONDO:0014715	biolink:Disease	primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis.	OMIM:616636|Orphanet:431166|UMLS:C4225260	mondo.json	IMD44|immunodeficiency type 44|immunodeficiency 44|primary immunodeficiency with post-MMR vaccine viral infection	http://purl.obolibrary.org/obo/MONDO_0014715	UMLS:C4225260|https://omim.org/entry/616636|Orphanet:431166	ordo_disease
HGNC:15917	biolink:NamedThing	PLCB1			mondo.json		http://identifiers.org/hgnc/15917		
GO:0097190	biolink:NamedThing	apoptotic signaling pathway	The series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered.		mondo.json	apoptotic signalling pathway|induction of apoptosis by extracellular signals	http://purl.obolibrary.org/obo/GO_0097190		
MONDO:0014719	biolink:Disease	developmental and epileptic encephalopathy, 35		OMIM:616647|UMLS:C4225256|Orphanet:457375|DOID:0080458	mondo.json	ITPA-related encephalopathy|epileptic encephalopathy, early infantile, 35|developmental and epileptic encephalopathy 35|epileptic encephalopathy, early infantile, type 35|EIEE35|DEE35	http://purl.obolibrary.org/obo/MONDO_0014719	DOID:0080458|UMLS:C4225256|https://omim.org/entry/616647|Orphanet:457375	ordo_disease
MONDO:0014721	biolink:Disease	obsolete hereditary spherocytosis type 2			mondo.json		http://purl.obolibrary.org/obo/MONDO_0014721		
HGNC:15924	biolink:NamedThing	SALL4			mondo.json		http://identifiers.org/hgnc/15924		
HGNC:6235	biolink:NamedThing	KCNC3			mondo.json		http://identifiers.org/hgnc/6235		
MONDO:0014720	biolink:Disease	autosomal dominant optic atrophy plus syndrome	Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.	SCTID:715374003|GARD:0005243|UMLS:C4275164|DOID:0111340|Orphanet:1215|UMLS:C1852267	mondo.json	dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy|optic atrophy - deafness- polyneuropathy - myopathy|Treft-Sanborn-Carey syndrome|optic atrophy-deafness-polyneuropathy-myopathy syndrome|optic atrophy type 8|DOA+	http://purl.obolibrary.org/obo/MONDO_0014720	http://identifiers.org/snomedct/715374003|UMLS:C1852267|UMLS:C4275164|Orphanet:1215|DOID:0111340	ordo_disease
UBERON:0035316	biolink:AnatomicalEntity	prostatic capsule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035316		
HGNC:15925	biolink:NamedThing	SAMHD1			mondo.json		http://identifiers.org/hgnc/15925		
MONDO:0014725	biolink:Disease	spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome		OMIM:616657|Orphanet:447997|UMLS:C4225254	mondo.json	spastic tetraplegia, thin corpus callosum, and progressive microcephaly|spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome|spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome|ASCT1 deficiency|SPATCCM	http://purl.obolibrary.org/obo/MONDO_0014725	UMLS:C4225254|https://omim.org/entry/616657|Orphanet:447997	ordo_disease
HGNC:6239	biolink:NamedThing	KCND3			mondo.json		http://identifiers.org/hgnc/6239		
MONDO:0014724	biolink:Disease	Joubert syndrome 24	Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN2 gene.	OMIM:616654|DOID:0110993|UMLS:C4084841	mondo.json	TCTN2 Joubert syndrome|Joubert syndrome caused by mutation in TCTN2|Joubert syndrome type 24|Joubert syndrome 24|JBTS24	http://purl.obolibrary.org/obo/MONDO_0014724	https://omim.org/entry/616654|DOID:0110993|UMLS:C4084841	
GO:0120054	biolink:NamedThing	intestinal motility	Contractions of the intestinal tract that include peristalsis (moving contents onward) and non-peristaltic movement (moving contents back and forth).		mondo.json		http://purl.obolibrary.org/obo/GO_0120054		
MONDO:0014723	biolink:Disease	PMP22-RAI1 contiguous gene duplication syndrome		OMIM:616652|UMLS:C4225255|Orphanet:477817	mondo.json	17p11.2p12 microduplication syndrome|trisomy 17p11.2-p12|trisomy 17p11.2p12|Yuan-Harel-Lupski syndrome|dup(17)(p11.2p12)|YUAN-Harel-Lupski syndrome|YUHAL	http://purl.obolibrary.org/obo/MONDO_0014723	Orphanet:477817|https://omim.org/entry/616652|UMLS:C4225255	ordo_malformation_syndrome
MONDO:0014722	biolink:Disease	Roifman syndrome		OMIM:300258|Orphanet:353298|OMIM:616651|UMLS:C1846059|GARD:0009163|MESH:C535866	mondo.json	ROIFMAN syndrome|spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency|RFMN|spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|Roifman syndrome|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency	http://purl.obolibrary.org/obo/MONDO_0014722	https://omim.org/entry/616651|http://identifiers.org/mesh/C535866|Orphanet:353298|UMLS:C1846059	gard_rare|ordo_disease
MONDO:0002729	biolink:Disease	rhabdoid tumor of the kidney	A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor.	NCIT:C8715|UMLS:C0854917|DOID:3674|EFO:1000512	mondo.json	rhabdoid neoplasm of the kidney|MRTK|rhabdoid tumor of the kidney (RTK)|rhabdoid tumour of kidney|rhabdoid tumour of the kidney|renal rhabdoid tumor|rhabdoid tumor of the kidney|kidney rhabdoid cancer|malignant rhabdoid tumor of kidney|malignant rhabdoid tumor of the kidney|kidney rhabdoid tumor|renal rhabdoid neoplasm|rhabdoid neoplasm of kidney	http://purl.obolibrary.org/obo/MONDO_0002729	NCIT:C8715|DOID:3674|UMLS:C0854917	
NCBITaxon:121791	biolink:OrganismalEntity	Nipah henipavirus		GC_ID:1	mondo.json	Nipah-virus|Nipah virus	http://purl.obolibrary.org/obo/NCBITaxon_121791		
FOODON:03311737	biolink:NamedThing	processed food product		SUBSET_SIREN:F11737	mondo.json		http://purl.obolibrary.org/obo/FOODON_03311737		"subset_siren"
MONDO:0002725	biolink:Disease	obsolete diffuse cutaneous mastocytosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002725		
NCBITaxon:106179	biolink:OrganismalEntity	phagocytophilum group		GC_ID:11	mondo.json	phagocytophila group	http://purl.obolibrary.org/obo/NCBITaxon_106179		
HGNC:6231	biolink:NamedThing	KCNB1			mondo.json		http://identifiers.org/hgnc/6231		
MONDO:0002726	biolink:Disease	cutaneous solitary mastocytoma	A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology.	NCIT:C7138|DOID:3666|MESH:D054705|ICDO:9740/1|EFO:1001844	mondo.json	solitary mastocytoma of skin|solitary mastocytoma of the skin|skin solitary mastocytoma	http://purl.obolibrary.org/obo/MONDO_0002726	NCIT:C7138|http://identifiers.org/mesh/D054705|DOID:3666	
NCBITaxon:106178	biolink:OrganismalEntity	canis group		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_106178		
MONDO:0002727	biolink:Disease	olfactory nerve disorder	A disease involving the olfactory nerve.	ICD9:352.0|UMLS:C0751937|NCIT:C27210|DOID:367|SCTID:68982002|MESH:D020431	mondo.json	disorder of the 1st nerve|olfactory nerve disease or disorder|disease of olfactory nerve|disorder of olfactory [1st] nerve|disorder of olfactory nerve|disorder of 1st nerve|olfactory nerve disorder|olfactory nerve disease|disease or disorder of olfactory nerve	http://purl.obolibrary.org/obo/MONDO_0002727	http://identifiers.org/snomedct/68982002|DOID:367|NCIT:C27210|UMLS:C0751937|http://identifiers.org/mesh/D020431	
HGNC:8896	biolink:NamedThing	PGK1			mondo.json		http://identifiers.org/hgnc/8896		
HGNC:6233	biolink:NamedThing	KCNC1			mondo.json		http://identifiers.org/hgnc/6233		
MONDO:0002728	biolink:Disease	rhabdoid tumor	An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor.	Orphanet:69077|ICDO:8963/3|EFO:0005701|DOID:3672|NCIT:C3808|UMLS:C0206743|ONCOTREE:MRT|MESH:D018335|GARD:0007572	mondo.json	rhabdoid cancer|malignant rhabdoid tumour|rhabdoid sarcoma|rhabdoid tumor|malignant rhabdoid tumor	http://purl.obolibrary.org/obo/MONDO_0002728	NCIT:C3808|Orphanet:69077|UMLS:C0206743|DOID:3672|http://identifiers.org/mesh/D018335	ordo_disease
MONDO:0002743	biolink:Disease	obsolete prostate colloid adenocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002743		
NCBITaxon:2732536	biolink:OrganismalEntity	Cirlivirales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732536		
MONDO:0002744	biolink:Disease	fallopian tube mucinous adenocarcinoma	An extremely rare adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin. The cases that have been reported are predominantly in situ mucinous adenocarcinomas.	UMLS:C1517119|NCIT:C40103|DOID:3704	mondo.json	fallopian tube mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002744	DOID:3704|UMLS:C1517119|NCIT:C40103	
MONDO:0002745	biolink:Disease	fallopian tube mucinous tumor	A rare borderline or malignant epithelial tumor of the fallopian tube characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract.	NCIT:C40109|UMLS:C1517120|DOID:3705	mondo.json	fallopian tube mucinous tumor|fallopian tube mucinous neoplasm	http://purl.obolibrary.org/obo/MONDO_0002745	DOID:3705|UMLS:C1517120|NCIT:C40109	
NCBITaxon:2732533	biolink:OrganismalEntity	Zurhausenvirales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732533		
MONDO:0002746	biolink:Disease	fallopian tube adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the fallopian tube	NCIT:C6265|DOID:3706|UMLS:C1333590	mondo.json	adenocarcinoma of fallopian tube|fallopian tube adenocarcinoma|adenocarcinoma of the fallopian tube	http://purl.obolibrary.org/obo/MONDO_0002746	DOID:3706|NCIT:C6265|UMLS:C1333590	
NCBITaxon:2732534	biolink:OrganismalEntity	Piccovirales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732534		
MONDO:0002740	biolink:Disease	uterine ligament mucinous adenocarcinoma	A rare mucinous adenocarcinoma that arises from the uterine ligament.	DOID:3699|UMLS:C1519869|NCIT:C40137	mondo.json	uterine ligament mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002740	DOID:3699|UMLS:C1519869|NCIT:C40137	
MONDO:0002741	biolink:Disease	uterine ligament adenocarcinoma	A rare adenocarcinoma that arises from the uterine ligament.	NCIT:C40135|DOID:3700|UMLS:C1519866	mondo.json	uterine ligament adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002741	DOID:3700|UMLS:C1519866|NCIT:C40135	
MONDO:0002742	biolink:Disease	cervical mucinous adenocarcinoma	A usually well to moderately differentiated cervical adenocarcinoma characterized by the presence of malignant glandular cells that contain significant amount of intracytoplasmic mucin.	NCIT:C36095|DOID:3701|UMLS:C1332919	mondo.json	cervical mucinous adenocarcinoma|uterine cervix mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002742	DOID:3701|NCIT:C36095|UMLS:C1332919	
CHEBI:28976	biolink:ChemicalSubstance	carbonic acid			mondo.json	Koehlensaeure|H2CO3|carbonic acid|Carbonic acid|[CO(OH)2]|Dihydrogen carbonate|dihydroxidooxidocarbon	http://purl.obolibrary.org/obo/CHEBI_28976		
MONDO:0014707	biolink:Disease	14q32 duplication syndrome	14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.	UMLS:C4225449|Orphanet:488280|OMIM:616604	mondo.json	chromosome 14q32 DUPLICATION syndrome, 700-KB|myeloproliferative neoplasms, familial, susceptibility to|dup(14)q(32)|predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication|trisomy 14q32	http://purl.obolibrary.org/obo/MONDO_0014707	UMLS:C4225449|https://omim.org/entry/616604|Orphanet:488280	ordo_disease
UBERON:0011342	biolink:AnatomicalEntity	surface of mandible			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011342		
MONDO:0014706	biolink:Disease	cutis laxa, autosomal dominant 3	An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.	OMIM:616603|UMLS:C4225268|DOID:0070131	mondo.json	cutis laxa, autosomal dominant type 3|cutis laxa, autosomal dominant 3|autosomal dominant cutis laxa 3|ADCL3	http://purl.obolibrary.org/obo/MONDO_0014706	UMLS:C4225268|https://omim.org/entry/616603|DOID:0070131	
MONDO:0014705	biolink:Disease	craniosynostosis 6	Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene.	OMIM:616602|UMLS:C4225269	mondo.json	craniosynostosis caused by mutation in ZIC1|CRS6|craniosynostosis type 6|ZIC1 craniosynostosis|craniosynostosis 6	http://purl.obolibrary.org/obo/MONDO_0014705	UMLS:C4225269|https://omim.org/entry/616602	
MONDO:0014704	biolink:Disease	skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome		OMIM:616592|Orphanet:477831|UMLS:C4225270	mondo.json	Kosaki overgrowth syndrome|KOGS|skeletal overgrowth with Facial Dysmorphism, hyperelastic skin, White matter lesions, and neurologic deterioration	http://purl.obolibrary.org/obo/MONDO_0014704	UMLS:C4225270|Orphanet:477831|https://omim.org/entry/616592	ordo_malformation_syndrome
MONDO:0014709	biolink:Disease	obsolete Heimler syndrome 2		OMIM:616617|UMLS:C4225267|DOID:0080624	mondo.json	HMLR2|HEIMLER syndrome 2|Heimler syndrome type 2|Heimler syndrome 2|peroxisome biogenesis disorder 4C	http://purl.obolibrary.org/obo/MONDO_0014709	DOID:0080624|UMLS:C4225267|https://omim.org/entry/616617	
MONDO:0014708	biolink:Disease	ring chromosome 14	Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.	ICD9:758.89|OMIM:616606|GARD:0006072|UMLS:CN233170|SCTID:702345009|Orphanet:1440|MESH:C535487	mondo.json	Ring chromosome type 14|chromosome 14 ring|RING chromosome 14 syndrome|Ring 14|ring chromosome 14 syndrome, isolated cases	http://purl.obolibrary.org/obo/MONDO_0014708	Orphanet:1440|https://omim.org/entry/616606|http://identifiers.org/mesh/C535487|UMLS:CN233170|http://identifiers.org/snomedct/702345009	gard_rare|ordo_malformation_syndrome
MONDO:0014710	biolink:Disease	autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the RORC gene.	UMLS:C4225266|OMIM:616622|Orphanet:477857	mondo.json	RORC autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|immunodeficiency type 42|IMD42|autosomal recessive primary immunodeficiency due to RORC mutation|immunodeficiency 42|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in RORC|autosomal recessive MSMD due to complete RORgamma receptor defiency	http://purl.obolibrary.org/obo/MONDO_0014710	UMLS:C4225266|https://omim.org/entry/616622|Orphanet:477857	ordo_disease|predisposition
MONDO:0014714	biolink:Disease	progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.	OMIM:616632|UMLS:C4225261|Orphanet:477814	mondo.json	seizures, cortical blindness, and microcephaly syndrome|seizures, cortical blindness, microcephaly syndrome|SCBMS	http://purl.obolibrary.org/obo/MONDO_0014714	UMLS:C4225261|Orphanet:477814|https://omim.org/entry/616632	ordo_malformation_syndrome
MONDO:0014713	biolink:Disease	porokeratosis 9, multiple types	Any porokeratosis (disease) in which the cause of the disease is a mutation in the FDPS gene.	OMIM:616631|UMLS:C4225262	mondo.json	porokeratosis (disease) caused by mutation in FDPS|POROK9|FDPS porokeratosis (disease)|porokeratosis 9, multiple types|porokeratosis 9, multiple types; POROK9	http://purl.obolibrary.org/obo/MONDO_0014713	UMLS:C4225262|https://omim.org/entry/616631	
MONDO:0014712	biolink:Disease	Senior-Loken syndrome 9	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene.	UMLS:C4225263|OMIM:616629	mondo.json	Senior-Loken syndrome type 9|Senior-Loken syndrome 9|Senior-Loken syndrome 9; SLSN9|SLSN9|Senior-Loken syndrome caused by mutation in TRAF3IP1|TRAF3IP1 Senior-Loken syndrome	http://purl.obolibrary.org/obo/MONDO_0014712	UMLS:C4225263|https://omim.org/entry/616629	
MONDO:0014711	biolink:Disease	autosomal dominant Charcot-Marie-Tooth disease type 2W	Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the HARS gene.	Orphanet:488333|OMIM:616625|UMLS:C4225265|DOID:0110162	mondo.json	Charcot-Marie-Tooth neuropathy, type 2W|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2W|Charcot-Marie-Tooth disease type 2 caused by mutation in HARS|Charcot-Marie-Tooth disease, axonal type 2W|autosomal dominant axonal Charcot-Marie-Tooth disease type 2W|HARS Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease, axonal, type 2w|Charcot-Marie-Tooth disease, axonal, type 2W|Charcot-Marie-Tooth neuropathy type 2W|autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation|CMT2W	http://purl.obolibrary.org/obo/MONDO_0014711	UMLS:C4225265|DOID:0110162|https://omim.org/entry/616625|Orphanet:488333	ordo_disease
HGNC:6240	biolink:NamedThing	KCNE1			mondo.json		http://identifiers.org/hgnc/6240		
MONDO:0002736	biolink:Disease	ampulla of vater mucinous adenocarcinoma	A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucoid stroma formation.	UMLS:C1332248|NCIT:C27416|DOID:3693	mondo.json	ampulla of Vater mucinous adenocarcinoma|hepatopancreatic ampulla mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002736	DOID:3693|NCIT:C27416|UMLS:C1332248	
HGNC:6242	biolink:NamedThing	KCNE2			mondo.json		http://identifiers.org/hgnc/6242		
MONDO:0002737	biolink:Disease	acute sanguinous otitis media	A acute transudative otitis media which involves bloody effusion.	UMLS:C0395865|DOID:3696|SCTID:77478005|ICD9:381.03	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002737	http://identifiers.org/snomedct/77478005|DOID:3696|UMLS:C0395865	
NCBITaxon:2732532	biolink:OrganismalEntity	Sepolyvirales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732532		
HGNC:6243	biolink:NamedThing	KCNE3			mondo.json		http://identifiers.org/hgnc/6243		
MONDO:0002738	biolink:Disease	acute transudative otitis media	Acute form of non-suppurative otitis media.	ICD9:381.00|ICD9:381.0|DOID:3697|UMLS:C0271432|SCTID:359609001|UMLS:C2939185	mondo.json	acute transudative otitis media|acute secretory otitis media|acute non-suppurative otitis media|non-suppurative otitis media, acute|acute nonsuppurative otitis media|acute otitis media with effusion	http://purl.obolibrary.org/obo/MONDO_0002738	DOID:3697|UMLS:C2939185|http://identifiers.org/snomedct/359609001|UMLS:C0271432	
MONDO:0002739	biolink:Disease	extrahepatic bile duct mucinous adenocarcinoma	An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor.	DOID:3698|NCIT:C5846|UMLS:C0861856	mondo.json	colloid bile duct carcinoma|bile duct colloid carcinoma|colloidal adenocarcinoma of extrahepatic bile duct|mucinous carcinoma of the bile duct|colloid carcinoma of the bile duct|colloidal adenocarcinoma of the extrahepatic bile duct|mucinous carcinoma of bile duct|mucinous bile duct adenocarcinoma|colloid carcinoma of bile duct|colloid bile duct adenocarcinoma|colloid adenocarcinoma of the bile duct|colloid adenocarcinoma of bile duct|mucinous adenocarcinoma of the bile duct|mucinous adenocarcinoma of bile duct|bile duct colloidal carcinoma|colloidal bile duct carcinoma|mucinous adenocarcinoma of extrahepatic bile duct|mucinous adenocarcinoma of the extrahepatic bile duct|bile duct mucinous adenocarcinoma|colloid adenocarcinoma of extrahepatic bile duct|colloid extrahepatic bile duct adenocarcinoma|colloid adenocarcinoma of the extrahepatic bile duct|colloidal adenocarcinoma of the bile duct|mucinous extrahepatic bile duct adenocarcinoma|colloidal adenocarcinoma of bile duct|colloidal extrahepatic bile duct adenocarcinoma|colloidal carcinoma of the bile duct|colloidal bile duct adenocarcinoma|extrahepatic bile duct mucinous adenocarcinoma|colloidal carcinoma of bile duct	http://purl.obolibrary.org/obo/MONDO_0002739	UMLS:C0861856|DOID:3698|NCIT:C5846	
MONDO:0002710	biolink:Disease	infiltrating angiolipoma	An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue.	NCIT:C7449|UMLS:C1305256|DOID:3615	mondo.json	angiolipoma, infiltrating (morphologic abnormality)|angiolipoma, infiltrating|infiltrating angiolipoma	http://purl.obolibrary.org/obo/MONDO_0002710	NCIT:C7449|DOID:3615|UMLS:C1305256	
MONDO:0002711	biolink:Disease	obsolete angiolipoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002711		
MONDO:0002712	biolink:Disease	epidural spinal canal angiolipoma	An uncommon lipoma characterized by prominent vascularity that arises in the epidural space of the spinal canal.	NCIT:C5424|UMLS:C1333416|DOID:3617	mondo.json	epidural space angiolipoma|angiolipoma of extradural spinal canal|angiolipoma of epidural space|angiolipoma of the extradural spinal canal|angiolipoma of the epidural spinal canal|angiolipoma of epidural spinal canal|extradural spinal canal angiolipoma	http://purl.obolibrary.org/obo/MONDO_0002712	DOID:3617|NCIT:C5424|UMLS:C1333416	
NCBITaxon:2732544	biolink:OrganismalEntity	Martellivirales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732544		
MONDO:0002713	biolink:Disease	epidural spinal canal neoplasm	A primary or metastatic neoplasm that involves the space between the vertebral periosteum and dura mater that surrounds the spinal cord.	UMLS:C0014536|MESH:D015174|EFO:1000923|DOID:3618|NCIT:C3019	mondo.json	epidural space neoplasm|epidural tumor|neoplasm of the extradural spinal canal|epidural spinal canal neoplasm|extradural spinal neoplasms|neoplasm of extradural spinal canal|extradural spinal canal tumor|extradural neoplasm|neoplasm of the epidural spinal canal|extradural spinal canal neoplasm|epidural spinal neoplasms|tumor of epidural space|neoplasm of epidural spinal canal|epidural spinal canal tumors|epidural spinal canal tumor|epidural neoplasm|extradural spinal canal neoplasms|epidural spinal tumors|tumor of the extradural spinal canal|tumor of extradural spinal canal|extradural spinal tumors|tumor of the epidural spinal canal|extradural tumor|tumor of epidural spinal canal|neoplasm of epidural space|epidural space tumor	http://purl.obolibrary.org/obo/MONDO_0002713	UMLS:C0014536|DOID:3618|NCIT:C3019|http://identifiers.org/mesh/D015174	
NCBITaxon:2732545	biolink:OrganismalEntity	Amarillovirales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732545		
UBERON:0011332	biolink:AnatomicalEntity	extrinsic tongue pre-muscle mass			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011332		
HGNC:6257	biolink:NamedThing	KCNJ11			mondo.json		http://identifiers.org/hgnc/6257		
HGNC:15901	biolink:NamedThing	IFT52			mondo.json		http://identifiers.org/hgnc/15901		
HGNC:6259	biolink:NamedThing	KCNJ13			mondo.json		http://identifiers.org/hgnc/6259		
MONDO:0014703	biolink:Disease	Adams-Oliver syndrome 6	Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene.	OMIM:616589|UMLS:C4225271	mondo.json	Adams-Oliver syndrome type 6|Adams-Oliver syndrome 6|DLL4 Adams-Oliver syndrome|Adams-Oliver syndrome caused by mutation in DLL4|AOS6	http://purl.obolibrary.org/obo/MONDO_0014703	UMLS:C4225271|https://omim.org/entry/616589	
MONDO:0014702	biolink:Disease	autosomal recessive complex spastic paraplegia type 9B	Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.	DOID:0110825|OMIM:616586|Orphanet:447760|UMLS:C4225272	mondo.json	hereditary spastic paraplegia type 9B|spastic paraplegia 9B, autosomal recessive|hereditary spastic paraplegia 9B|autosomal recessive complex spastic paraplegia type 9B|ALDH18A1 autosomal recessive complex spastic paraplegia|autosomal recessive spastic paraplegia 9B|AR-SPG9B|autosomal recessive complex spastic paraplegia caused by mutation in ALDH18A1|SPG9B	http://purl.obolibrary.org/obo/MONDO_0014702	UMLS:C4225272|https://omim.org/entry/616586|Orphanet:447760|DOID:0110825	ordo_disease
CHEBI:16998	biolink:ChemicalSubstance	D-phenylalanine	The D-enantiomer of phenylalanine.		mondo.json	DPN|D-phenylalanine|D-PHENYLALANINE|D-Phenylalanine|(2R)-2-amino-3-phenylpropanoic acid|phenylalanine D-form|D-alpha-Amino-beta-phenylpropionic acid|D-Phe	http://purl.obolibrary.org/obo/CHEBI_16998		
MONDO:0014701	biolink:Disease	spondyloepiphyseal dysplasia, Stanescu type		Orphanet:459051|UMLS:C4225273|OMIM:616583	mondo.json	spondyloepiphyseal dysplasia, Stanescu type|SEDSTN|SED, Stanescu type	http://purl.obolibrary.org/obo/MONDO_0014701	UMLS:C4225273|https://omim.org/entry/616583|Orphanet:459051	ordo_disease|clingen
MONDO:0014700	biolink:Disease	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation		UMLS:C4225274|UMLS:CN237748|OMIM:616580|Orphanet:453504	mondo.json	AU-Kline syndrome|AUKS|neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation|Au-Kline syndrome	http://purl.obolibrary.org/obo/MONDO_0014700	Orphanet:453504|UMLS:C4225274|UMLS:CN237748|https://omim.org/entry/616580	ordo_etiological_subtype
MONDO:0002707	biolink:Disease	breast mucinous carcinoma	An invasive adenocarcinoma of the breast characterized by the presence of islands of small and uniform cells, surrounded by large amounts of mucin. Pure mucinous breast carcinomas generally have a favorable prognosis.	ONCOTREE:IMMC|DOID:3610|SCTID:444712000|UMLS:C1334807|NCIT:C9131	mondo.json	invasive mucinous breast carcinoma|colloid carcinoma of breast|colloid carcinoma of the breast|mucinous carcinoma of breast|mucinous carcinoma of the breast|infiltrating colloid breast carcinoma|mucinous breast cancer|mucinous breast carcinoma|breast mucinous carcinoma|colloid breast carcinoma|infiltrating mucinous breast carcinoma|invasive colloid breast carcinoma|breast invasive mixed mucinous carcinoma	http://purl.obolibrary.org/obo/MONDO_0002707	UMLS:C1334807|NCIT:C9131|http://identifiers.org/snomedct/444712000|DOID:3610	
MONDO:0002708	biolink:Disease	retinitis	Inflammation of the retina.	MESH:D012173|DOID:3612|SCTID:399463004|UMLS:C0035333|NCIT:C115993	mondo.json	inflammation of retina|retina inflammation	http://purl.obolibrary.org/obo/MONDO_0002708	http://identifiers.org/mesh/D012173|DOID:3612|NCIT:C115993|UMLS:C0035333|http://identifiers.org/snomedct/399463004	
HP:0011514	biolink:PhenotypicFeature	Abnormality of binocular vision	An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth.	UMLS:C4023320	mondo.json		http://purl.obolibrary.org/obo/HP_0011514		
HGNC:6250	biolink:NamedThing	KCNH1			mondo.json		http://identifiers.org/hgnc/6250		
MONDO:0002709	biolink:Disease	obsolete Kallmann syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002709		
HGNC:6251	biolink:NamedThing	KCNH2			mondo.json		http://identifiers.org/hgnc/6251		
MONDO:0002703	biolink:Disease	appendix mucinous cystadenocarcinoma	An adenocarcinoma arising from the appendix, characterized by the presence of mucinous stroma formation and cystic structures.	UMLS:C1096639|NCIT:C5511|DOID:3607	mondo.json	appendix colloid cystadenocarcinoma|colloidal cystadenocarcinoma of appendix|appendiceal colloid cystadenocarcinoma|mucinous cystadenocarcinoma of appendix|vermiform appendix mucinous cystadenocarcinoma|colloid cystadenocarcinoma of appendix|mucinous cystadenocarcinoma of the appendix|colloid cystadenocarcinoma of the appendix|colloidal cystadenocarcinoma of the appendix|appendiceal mucinous cystadenocarcinoma|appendix colloidal cystadenocarcinoma|appendix mucinous cystadenocarcinoma|appendiceal colloidal cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002703	UMLS:C1096639|DOID:3607|NCIT:C5511	
CHEBI:16990	biolink:ChemicalSubstance	bilirubin IXalpha	A member of the class of  biladienes that is a linear tetrapyrrole with the dipyrrole units being of both exovinyl and endovinyl type. A product of heme degradation, it is produced in the reticuloendothelial system by the reduction of biliverdin and transported to the liver as a complex with serum albumin.		mondo.json	2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-1,10,19,22,23,24-hexahydro-21H-biline-8,12-dipropanoic acid|bilirubin(Z,Z)|8,12-bis(2-carboxyethyl)-2,7,13,17-tetramethyl-3,18-divinylbiladiene-ac-1,19(21H,24H)-dione|1,10,19,22,23,24-hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinylbiline-8,12-dipropionic acid|bilirubin|bilirubin-IXalpha|3,18-diethenyl-2,7,13,17-tetramethyl-1,19-dioxo-1,10,19,22,23,24-hexahydro-21H-biline-8,12-dipropanoic acid|Bilirubin|2,17-diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-biline-8,12-dipropanoic acid	http://purl.obolibrary.org/obo/CHEBI_16990		
NCBITaxon:2732543	biolink:OrganismalEntity	Hepelivirales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732543		
MONDO:0002704	biolink:Disease	obsolete appendix adenocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002704		
HGNC:6255	biolink:NamedThing	KCNJ1			mondo.json		http://identifiers.org/hgnc/6255		
MONDO:0002705	biolink:Disease	breast mucinous cystadenocarcinoma	An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are identified.	NCIT:C40354|UMLS:C1511318|DOID:3609	mondo.json	breast mucinous cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002705	NCIT:C40354|UMLS:C1511318|DOID:3609	
MONDO:0002706	biolink:Disease	cervix endometriosis	Endometriosis that affects the cervix. Most patients are asymptomatic. Some patients may present with recurrent minimal uterine bleeding.	DOID:361|SCTID:61640006|NCIT:C27623|UMLS:C0269107	mondo.json	uterine cervix endometriosis (disease)|cervical endometriosis|endometriosis of cervix|endometriosis (disease) of uterine cervix	http://purl.obolibrary.org/obo/MONDO_0002706	DOID:361|http://identifiers.org/snomedct/61640006|NCIT:C27623|UMLS:C0269107	
NCBITaxon:2732541	biolink:OrganismalEntity	Reovirales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732541		
HGNC:6256	biolink:NamedThing	KCNJ10			mondo.json		http://identifiers.org/hgnc/6256		
MONDO:0002721	biolink:Disease	necrosis of pituitary	Ischemic or hemorrhagic necrosis of the pituitary gland.	UMLS:C0271558|NCIT:C27066|DOID:3646|SCTID:59572000	mondo.json	pituitary gland Necrosis|pituitary necrosis	http://purl.obolibrary.org/obo/MONDO_0002721	DOID:3646|NCIT:C27066|UMLS:C0271558|http://identifiers.org/snomedct/59572000	
MONDO:0002722	biolink:Disease	olfactory nerve neoplasm	Benign and malignant neoplasms which arise from or metastasize to the olfactory or first cranial nerve. Clinical features may include facial pain and impairments of taste or smell.	NCIT:C5121|ICD9:239.7|DOID:366|UMLS:C0346319|SCTID:126967000|DOID:8256	mondo.json	olfactory nerve neoplasms|neoplasm of the first cranial nerve|neoplasm of first cranial nerve|first cranial nerve tumor|neoplasm of olfactory nerve|olfactory nerve neoplasm|tumor of the olfactory nerve|olfactory nerve tumor|first cranial nerve neoplasms|tumor of the first cranial nerve|neoplasms, cranial nerve I|olfactory nerve neoplasm (disease)|tumor of first cranial nerve|olfactory neural tumor|neoplasm of the olfactory nerve|neoplasms, olfactory nerve|cranial nerve I neoplasms|tumor of olfactory nerve|first cranial nerve neoplasm|olfactory neural neoplasm	http://purl.obolibrary.org/obo/MONDO_0002722	NCIT:C5121|DOID:8256|UMLS:C0346319|http://identifiers.org/snomedct/126967000	
MONDO:0002723	biolink:Disease	obsolete cutaneous mastocytosis			mondo.json	obsolete cutaneous mastocytosis (disease)	http://purl.obolibrary.org/obo/MONDO_0002723		
MONDO:0002724	biolink:Disease	mast cell neoplasm	A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001)	SCTID:414653009|DOID:3664|NCIT:C9295|ICD9:238.79|EFO:0009000|UMLS:C0334664	mondo.json	tumor of Mast cells|tumor of the Mast cells|Mast cell tumor|mast cell neoplasm|mast cell tumor|neoplasm of Mast cells|neoplasm of the Mast cells|Mast cell proliferative disease	http://purl.obolibrary.org/obo/MONDO_0002724	NCIT:C9295|http://identifiers.org/snomedct/414653009|DOID:3664|UMLS:C0334664	
NCBITaxon:36330	biolink:OrganismalEntity	Plasmodium ovale		PMID:20380562|GC_ID:1	mondo.json	malaria parasite P. ovale	http://purl.obolibrary.org/obo/NCBITaxon_36330		
UBERON:0001997	biolink:AnatomicalEntity	olfactory epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001997		
NCBITaxon:2732559	biolink:OrganismalEntity	Rowavirales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732559		
MONDO:0002720	biolink:Disease	sella turcica neoplasm	A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma.	DOID:3643|NCIT:C4944|ONCOTREE:SELT|UMLS:C0748616	mondo.json	tumor of sella turcica|selt|neoplasm of the sella turcica|neoplasm of sella turcica|sellar neoplasm|sella turcica neoplasm|sella turcica tumor|sellar tumor|tumor of the sella turcica	http://purl.obolibrary.org/obo/MONDO_0002720	UMLS:C0748616|DOID:3643|NCIT:C4944	
GO:0097186	biolink:NamedThing	amelogenesis	The process whose specific outcome is the formation of tooth enamel, occurring in two stages: secretory stage and maturation stage.		mondo.json	enamel development	http://purl.obolibrary.org/obo/GO_0097186		
HGNC:15911	biolink:NamedThing	NOP56			mondo.json		http://identifiers.org/hgnc/15911		
MONDO:0002718	biolink:Disease	central nervous system teratoma	A mature or immature teratoma that affects the central nervous system.	Orphanet:252018|UMLS:C1332895|NCIT:C5441|DOID:3640	mondo.json	teratoma of the central nervous system|CNS teratoma|teratoma of the CNS|teratoma of central nervous system|teratoma of CNS|central nervous system teratoma	http://purl.obolibrary.org/obo/MONDO_0002718	UMLS:C1332895|Orphanet:252018|DOID:3640|NCIT:C5441	ordo_clinical_subtype
MONDO:0002719	biolink:Disease	conus medullaris neoplasm	A neoplasm (disease) that involves the conus medullaris.	NCIT:C5443|DOID:3641|UMLS:C1333153	mondo.json	tumor of the conus medullaris|conus medullaris neoplasm|neoplasm of the conus medullaris|conus medullaris neoplasm (disease)|tumor of conus medullaris|neoplasm of conus medullaris|conus medullaris tumor	http://purl.obolibrary.org/obo/MONDO_0002719	UMLS:C1333153|DOID:3641|NCIT:C5443	
CHEBI:14321	biolink:ChemicalSubstance	glutamate(1-)	An alpha-amino-acid anion that is the conjugate base of glutamic acid, having anionic carboxy groups and a cationic amino group		mondo.json	glutamate|glutamic acid monoanion|glutamate(1-)|2-ammoniopentanedioate|hydrogen glutamate	http://purl.obolibrary.org/obo/CHEBI_14321		
HGNC:6263	biolink:NamedThing	KCNJ2			mondo.json		http://identifiers.org/hgnc/6263		
MONDO:0002714	biolink:Disease	central nervous system cancer	A malignant neoplasm involving the central nervous system	NCIT:C9293|NCIT:C4627|DOID:3620|ICD9:239.7|EFO:0000326|SCTID:126951006|MESH:D016543	mondo.json	malignant tumor of the CNS|cancer of the CNS|cancer of the central nervous system|malignant central nervous system neoplasm|malignant CNS neoplasm|CNS neoplasm|central nervous system cancer|malignant tumor of central nervous system|malignant tumor of CNS|cancer of CNS|central nervous system tumors|malignant tumor of the central nervous system|malignant neoplasm of central nervous system|malignant neoplasm of the CNS|malignant central nervous system tumor|malignant neoplasm of the central nervous system|CNS cancer|malignant neoplasm of CNS|central nervous system neoplasms, malignant|central nervous system tumor|CNS neoplasms, malignant|malignant CNS tumor|malignant CNS neoplasms|cancer of central nervous system|CNS malignant neoplasms	http://purl.obolibrary.org/obo/MONDO_0002714	http://identifiers.org/snomedct/126951006|DOID:3620|NCIT:C4627|http://identifiers.org/mesh/D016543	
MONDO:0002715	biolink:Disease	uterine cancer	Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix.	SCTID:371973000|NCIT:C3552|MESH:D014594|DOID:363|ICD9:179	mondo.json	neoplasm of uterus|malignant uterus neoplasm|malignant neoplasm of the uterus|uterine tumor|malignant uterine tumor|cancer of uterus|CA - cancer of uterus|malignant uterine neoplasm|tumour of uterus|cancer of the uterus|malignant tumor of uterus|malignant tumor of the uterus|uterus cancer|malignant neoplasm of uterus|uterus neoplasm|uterine cancer	http://purl.obolibrary.org/obo/MONDO_0002715	http://identifiers.org/mesh/D014594|DOID:363|http://identifiers.org/snomedct/371973000|NCIT:C3552	
MONDO:0002716	biolink:Disease	childhood spinal cord tumor	A benign or malignant neoplasm affecting the spinal cord during childhood.	DOID:3637|UMLS:C1134515|NCIT:C9234	mondo.json	childhood spinal cord neoplasm|spinal cord neoplasm of childhood|pediatric spinal cord neoplasm	http://purl.obolibrary.org/obo/MONDO_0002716	UMLS:C1134515|NCIT:C9234|DOID:3637	
NCBITaxon:2732551	biolink:OrganismalEntity	Stellavirales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732551		
HGNC:6266	biolink:NamedThing	KCNJ5			mondo.json		http://identifiers.org/hgnc/6266		
MONDO:0002717	biolink:Disease	spinal cord intramedullary teratoma		NCIT:C5428|UMLS:C1334259|DOID:3639	mondo.json	intramedullary spinal cord teratoma|intramedullary teratoma of the spinal cord|intramedullary teratoma of spinal cord|intramedullary spinal teratoma	http://purl.obolibrary.org/obo/MONDO_0002717	DOID:3639|NCIT:C5428|UMLS:C1334259	
HGNC:6267	biolink:NamedThing	KCNJ6			mondo.json		http://identifiers.org/hgnc/6267		
MONDO:0002776	biolink:Disease	external ear disorder	A disease involving the external ear.	ICD9:744.47|UMLS:C0155388|ICD9:380|NCIT:C26972|ICD10CM:H60-H62|SCTID:49130001|ICD9:380.9|DOID:379	mondo.json	external ear disorder|external ear disease or disorder|preauricular cyst|preauricular sinus or fistula NOS (disorder)|disorder of external ear|preauricular cyst (disorder)|preauricular sinus or fistula|disease or disorder of external ear|disease of external ear|external ear disease|preauricular sinus and fistula (disorder)|preauricular sinus and fistula	http://purl.obolibrary.org/obo/MONDO_0002776	NCIT:C26972|http://purl.bioontology.org/ontology/ICD10CM/H60-H62|DOID:379|http://identifiers.org/snomedct/49130001|UMLS:C0155388	
MONDO:0000113	biolink:Disease	obsolete cerebellar ataxia, mental retardation, and dysequilibrium syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000113		
MONDO:0000112	biolink:Disease	obsolete cardioencephalomyopathy, fatal infantile			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000112		
MONDO:0002777	biolink:Disease	obsolete pleural empyema			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002777		
MONDO:0002778	biolink:Disease	epidural spinal canal meningioma	A meningioma that arises in the epidural spinal canal space.	UMLS:C1333417|NCIT:C5310|DOID:3809	mondo.json	meningioma of the epidural spinal canal|meningioma of epidural spinal canal	http://purl.obolibrary.org/obo/MONDO_0002778	NCIT:C5310|UMLS:C1333417|DOID:3809	
MONDO:0000111	biolink:Disease	camptodactyly syndrome, Guadalajara			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000111		
MONDO:0002779	biolink:Disease	central nervous system chondroma	An extraskeletal chondroma usually arising from the dura.	DOID:3813|UMLS:C1333019|NCIT:C7001	mondo.json	osteochondroma of the CNS|CNS chondroma|osteochondroma of central nervous system|osteochondroma of CNS|osteochondroma of the central nervous system|chondroma of the CNS|chondroma of central nervous system|chondroma of the central nervous system|central nervous system chondroma|central nervous system osteochondroma|CNS osteochondroma|chondroma of CNS	http://purl.obolibrary.org/obo/MONDO_0002779	UMLS:C1333019|NCIT:C7001|DOID:3813	
MONDO:0000110	biolink:Disease	bifid nose	Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.	GARD:0000884|Orphanet:2695|MESH:C535441|UMLS:CN227089	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000110	UMLS:CN227089|Orphanet:2695|http://identifiers.org/mesh/C535441	ordo_malformation_syndrome
CHEBI:77932	biolink:ChemicalSubstance	tetracycline zwitterion	A zwitterion obtained by transfer of a proton from the 2-hydroxy group to the 1-amino group of tetracycline. It is the major microspecies at pH 7.3 (according to Marvin v 6.2.0.).		mondo.json	tetracycline|(1S,4aS,11S,11aS,12aS)-3-carbamoyl-1-(dimethylazaniumyl)-4a,5,7,11-tetrahydroxy-11-methyl-4,6-dioxo-1,4,4a,6,11,11a,12,12a-octahydrotetracen-2-olate	http://purl.obolibrary.org/obo/CHEBI_77932		
MONDO:0002772	biolink:Disease	intraventricular meningioma	A meningioma that affects the ventricles of the brain.	NCIT:C5273|UMLS:C1334271|DOID:3772	mondo.json	meningioma (disease) of brain ventricle|brain ventricle meningioma (disease)	http://purl.obolibrary.org/obo/MONDO_0002772	UMLS:C1334271|DOID:3772|NCIT:C5273	
MONDO:0000117	biolink:Disease	obsolete diarrhea, congenital			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000117		
MONDO:0002773	biolink:Disease	obsolete MONDO:0002773			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002773		
MONDO:0000116	biolink:Disease	obsolete cortical dysplasia, complex, with other brain malformations			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000116		
CHEBI:77938	biolink:ChemicalSubstance	barbiturate(1-)	An organic anion obtained by removal of one of the methylene protons from barbituric acid. It is the major microspecies at pH 7.3 (according to Marvin v 6.2.0.).		mondo.json	2,4,6-trioxohexahydropyrimidin-5-ide|barbiturate	http://purl.obolibrary.org/obo/CHEBI_77938		
MONDO:0000115	biolink:Disease	Chiari malformation	A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus.	MESH:D001139|SCTID:253184003|NCIT:C84570	mondo.json	Arnold-Chiari malformation|(Arnold) Chiari malformation|Chiari malformation	http://purl.obolibrary.org/obo/MONDO_0000115	NCIT:C84570|http://identifiers.org/snomedct/253184003|http://identifiers.org/mesh/D001139	
MONDO:0002774	biolink:Disease	obsolete chordoid glioma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002774		
MONDO:0002775	biolink:Disease	anovulation	The absence of ovulation.	UMLS:C0003128|MESH:D000858|DOID:3781	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002775	UMLS:C0003128|http://identifiers.org/mesh/D000858|DOID:3781	
UBERON:0011390	biolink:AnatomicalEntity	pudendal nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011390		
MONDO:0000114	biolink:Disease	cerebelloparenchymal disorder			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000114		
MONDO:0002770	biolink:Disease	vaginal discharge	Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer.	MESH:D019522|DOID:3767|NCIT:C50795	mondo.json	Discharge, vaginal	http://purl.obolibrary.org/obo/MONDO_0002770	NCIT:C50795|http://identifiers.org/mesh/D019522|DOID:3767	
MONDO:0002771	biolink:Disease	pulmonary fibrosis	Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause).	UMLS:C0034069|MESH:D011658|DOID:3770|NCIT:C26869|SCTID:51615001	mondo.json	fibrosis of lung|pulmonary interstitial fibrosis	http://purl.obolibrary.org/obo/MONDO_0002771	NCIT:C26869|http://identifiers.org/mesh/D011658|DOID:3770|UMLS:C0034069|http://identifiers.org/snomedct/51615001	
MONDO:0014759	biolink:Disease	intellectual disability, autosomal recessive 51	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene.	UMLS:C4225220|OMIM:616739	mondo.json	mental retardation, autosomal recessive type 51|intellectual developmental disorder, autosomal recessive 51|autosomal recessive non-syndromic intellectual disability caused by mutation in HNMT|intellectual disability, autosomal recessive 51|HNMT autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 51|MRT51|intellectual disability, autosomal recessive type 51	http://purl.obolibrary.org/obo/MONDO_0014759	UMLS:C4225220|https://omim.org/entry/616739	
MONDO:0014765	biolink:Disease	woolly hair, autosomal recessive 3	Any woolly hair in which the cause of the disease is a mutation in the KRT25 gene.	OMIM:616760|DOID:0111574|UMLS:C4225214	mondo.json	woolly hair, autosomal recessive type 3|ARWH3|woolly hair, autosomal recessive 3, with hypotrichosis|KRT25 woolly hair (disease)|woolly hair, autosomal recessive 3|woolly hair (disease) caused by mutation in KRT25	http://purl.obolibrary.org/obo/MONDO_0014765	UMLS:C4225214|DOID:0111574|https://omim.org/entry/616760	
MONDO:0012102	biolink:Disease	glaucoma 1, open angle, K		OMIM:608696|MESH:C563873|UMLS:C1837527	mondo.json	JOAG1K|glaucoma, primary open angle, juvenile-onset, 3|glaucoma 1K, primary open angle, juvenile-onset|GLC1K|glaucoma 1, open angle, K	http://purl.obolibrary.org/obo/MONDO_0012102	http://identifiers.org/mesh/C563873|https://omim.org/entry/608696|UMLS:C1837527	
MONDO:0012103	biolink:Disease	spinocerebellar ataxia type 25	Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy.	UMLS:C1837518|GARD:0009996|Orphanet:101111|OMIM:608703|SCTID:718770005|DOID:0050974|MESH:C537202	mondo.json	SCA25|spinocerebellar ataxia 25	http://purl.obolibrary.org/obo/MONDO_0012103	Orphanet:101111|http://identifiers.org/snomedct/718770005|https://omim.org/entry/608703|http://identifiers.org/mesh/C537202|DOID:0050974|UMLS:C1837518	ordo_disease
MONDO:0014764	biolink:Disease	spastic paraplegia-severe developmental delay-epilepsy syndrome	Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.	Orphanet:464282|UMLS:C4225215|OMIM:616756	mondo.json	SPPRS syndrome|spastic paraplegia and psychomotor retardation with or without seizures|SPPRS|spastic paraplegia-psychomotor retardation-seizures syndrome	http://purl.obolibrary.org/obo/MONDO_0014764	UMLS:C4225215|Orphanet:464282|https://omim.org/entry/616756	ordo_disease
MONDO:0012100	biolink:Disease	major depressive disorder 2		UMLS:C1837529|MESH:C563875|OMIM:608691	mondo.json	major depressive disorder type 2|MDD2|unipolar depression 2|major depressive disorder 2	http://purl.obolibrary.org/obo/MONDO_0012100	https://omim.org/entry/608691|UMLS:C1837529|http://identifiers.org/mesh/C563875	
MONDO:0014763	biolink:Disease	obsolete Bombay phenotype		OMIM:616754	mondo.json	Bombay phenotype|Bombay phenotype, digenic|Reunion variant|para-Bombay phenotype	http://purl.obolibrary.org/obo/MONDO_0014763	https://omim.org/entry/616754	
MONDO:0012101	biolink:Disease	glaucoma 1, open angle, J		OMIM:608695|UMLS:C1837528|MESH:C563874	mondo.json	JOAG2|JOAG1J|glaucoma, primary open angle, juvenile-onset, 2|glaucoma 1, open angle, J|GLC1J	http://purl.obolibrary.org/obo/MONDO_0012101	https://omim.org/entry/608695|UMLS:C1837528|http://identifiers.org/mesh/C563874	
MONDO:0014762	biolink:Disease	heterotaxy, visceral, 7, autosomal	Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene.	OMIM:616749|UMLS:C4225217	mondo.json	heterotaxy, visceral, 7, autosomal|visceral heterotaxy caused by mutation in MMP21|HTX7|heterotaxy, visceral, 7, autosomal; HTX7|MMP21 visceral heterotaxy	http://purl.obolibrary.org/obo/MONDO_0014762	UMLS:C4225217|https://omim.org/entry/616749	
CHR:9606-chr17q23.1-q23.2	biolink:NamedThing	17q23.1-q23.2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr17q23.1-q23.2		
MONDO:0012106	biolink:Disease	microcephaly 5, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the ASPM gene.	DOID:0070280|UMLS:C1837501|MESH:C563871|OMIM:608716	mondo.json	ASPM autosomal recessive primary microcephaly|microcephaly 5, primary, autosomal recessive|autosomal recessive primary microcephaly caused by mutation in ASPM|MCPH5	http://purl.obolibrary.org/obo/MONDO_0012106	http://identifiers.org/mesh/C563871|DOID:0070280|https://omim.org/entry/608716|UMLS:C1837501	
MONDO:0014769	biolink:Disease	inherited oocyte maturation defect		UMLS:CN238505|OMIMPS:615774	mondo.json	OOMD|oocyte maturation defect	http://purl.obolibrary.org/obo/MONDO_0014769	UMLS:CN238505|https://omim.org/phenotypicSeries/PS615774	prototype_pattern
MONDO:0012107	biolink:Disease	neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia		OMIM:608720|UMLS:C1837492|MESH:C563870	mondo.json	neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia	http://purl.obolibrary.org/obo/MONDO_0012107	http://identifiers.org/mesh/C563870|https://omim.org/entry/608720|UMLS:C1837492	
MONDO:0014768	biolink:Disease	cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene.	DOID:0111036|OMIM:616779|UMLS:C4225211	mondo.json	CADASIL 2|CADASIL caused by mutation in HTRA1|CADASIL2|cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2|CADASIL type 2|autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2|HTRA1 CADASIL	http://purl.obolibrary.org/obo/MONDO_0014768	DOID:0111036|UMLS:C4225211|https://omim.org/entry/616779	
MONDO:0012104	biolink:Disease	acquired partial lipodystrophy	A lipodystrophy characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.	Orphanet:79087|OMIM:608709|MESH:C562448|NCIT:C129723|SCTID:75659004|UMLS:C0220989|GARD:0010509	mondo.json	APLD, susceptibility to|partial acquired lipodystrophy|APLD|lipodystrophy partial acquired|lipodystrophy cephalothoracic type|lipodystrophy, cephalothoracic type|Barraquer-Simons syndrome|susceptibility to partial acquired lipodystrophy|progressive cephalothoracic lipodystrophy|lipodystrophy, partial, progressive|lipodystrophy, partial, acquired, susceptibility to|acquired partial lipodystrophy|lipodystophy partial progressive	http://purl.obolibrary.org/obo/MONDO_0012104	http://identifiers.org/mesh/C562448|UMLS:C0220989|NCIT:C129723|http://identifiers.org/snomedct/75659004|Orphanet:79087	ordo_disease
MONDO:0014767	biolink:Disease	Seckel syndrome 9	Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene.	OMIM:616777|DOID:0070005|UMLS:C4225212	mondo.json	Seckel syndrome 9|TRAIP Seckel syndrome|Seckel syndrome type 9|Seckel syndrome caused by mutation in TRAIP|SCKL9	http://purl.obolibrary.org/obo/MONDO_0014767	DOID:0070005|UMLS:C4225212|https://omim.org/entry/616777	
NCBITaxon:121759	biolink:OrganismalEntity	Paracoccidioides brasiliensis		GC_ID:1	mondo.json	Loboa loboi|Zymonema brasiliensis	http://purl.obolibrary.org/obo/NCBITaxon_121759		
MONDO:0012105	biolink:Disease	granulomatosis with polyangiitis	A small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.	SCTID:195353004|EFO:0005297|GARD:0007880|UMLS:C3495801|DOID:12132|MESH:D014890|ICD9:446.4|NCIT:C123111|MedDRA:10047888|OMIM:608710|Orphanet:900|UMLS:C4050407|ICD10CM:M31.3	mondo.json	granulomatosis with polyangiitis|GPA|pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis|Wegener's granulomatosis|ANCA-associated vasculitis|necrotizing respiratory granulomatosis|Midline granulomatosis|Wg|Wegener granulomatosis|granulomatosis - Wegener's|Wegener's syndrome	http://purl.obolibrary.org/obo/MONDO_0012105	NCIT:C123111|https://omim.org/entry/608710|UMLS:C4050407|http://purl.bioontology.org/ontology/ICD10CM/M31.3|http://identifiers.org/mesh/D014890|UMLS:C3495801|Orphanet:900|DOID:12132|http://identifiers.org/snomedct/195353004	ordo_disease
MONDO:0014766	biolink:Disease	leukodystrophy and acquired microcephaly with or without dystonia;		UMLS:C4225213|OMIM:616763	mondo.json	LDAMD|leukodystrophy and acquired microcephaly with or without dystonia	http://purl.obolibrary.org/obo/MONDO_0014766	UMLS:C4225213|https://omim.org/entry/616763	
MONDO:0000109	biolink:Disease	obsolete basal ganglia calcification, idiopathic			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000109		
MONDO:0000108	biolink:Disease	bacteremia, susceptibility		UMLS:C3280646	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000108	UMLS:C3280646	predisposition
MONDO:0000107	biolink:Disease	auriculocondylar syndrome	Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.	UMLS:C1865295|GARD:0009798|SCTID:702443003|OMIMPS:602483|UMLS:CN160484|MESH:C538270|Orphanet:137888	mondo.json	auriculo-condylar syndrome|question mark ear|ears prominent and constricted|dysgnathia complex|question-mark ear syndrome|question mark ear syndrome	http://purl.obolibrary.org/obo/MONDO_0000107	http://identifiers.org/snomedct/702443003|https://omim.org/phenotypicSeries/PS602483|UMLS:C1865295|UMLS:CN160484|http://identifiers.org/mesh/C538270|Orphanet:137888	ordo_malformation_syndrome
MONDO:0002769	biolink:Disease	leukorrhea	Whitish or yellowish mucosal vaginal discharge.	MESH:D007973|DOID:3766	mondo.json	leukorrhea of vagina|discharge - leukorrhea	http://purl.obolibrary.org/obo/MONDO_0002769	DOID:3766|http://identifiers.org/mesh/D007973	
MONDO:0014761	biolink:Disease	obsolete hereditary pediatric Behçet-like disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0014761		
MONDO:0014760	biolink:Disease	TFRC-related combined immunodeficiency		OMIM:616740|UMLS:C4225219|Orphanet:476113	mondo.json	combined immunodeficiency due to TFRC deficiency|immunodeficiency type 46|Cid due to TFRC deficiency|immunodeficiency 46|IMD46	http://purl.obolibrary.org/obo/MONDO_0014760	UMLS:C4225219|Orphanet:476113|https://omim.org/entry/616740	ordo_disease
NCBITaxon:121752	biolink:OrganismalEntity	Lacazia loboi		GC_ID:1	mondo.json	Paracoccidioides loboi (nom. inval.)|Paracoccidioides loboi	http://purl.obolibrary.org/obo/NCBITaxon_121752		
HGNC:6278	biolink:NamedThing	KCNK3			mondo.json		http://identifiers.org/hgnc/6278		
MONDO:0026732	biolink:Disease	hypothyroidism, congenital, nongoitrous, 9		OMIM:301035	mondo.json	CHNG9|HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9|hypothyroidism, congenital, nongoitrous, 9, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0026732	https://omim.org/entry/301035	
MONDO:0002787	biolink:Disease	adamantinous craniopharyngioma	A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)	NCIT:C4726|DOID:3846|UMLS:C0431129|EFO:1000069|ICDO:9351/1	mondo.json	adamantinous neoplasm of Rathke's pouch|adamantinous Rathke's pouch neoplasm|adamantinomatous craniopharyngioma|adamantinous tumor of Rathke's pouch|adamantinous craniopharyngioma (morphologic abnormality)|craniopharyngioma, adamantinomatous|adamantinous Rathke's pouch tumor	http://purl.obolibrary.org/obo/MONDO_0002787	NCIT:C4726|DOID:3846|UMLS:C0431129	
MONDO:0000124	biolink:Disease	obsolete focal facial dermal dysplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000124		
MONDO:0002788	biolink:Disease	papillary craniopharyngioma	A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)	DOID:3847|EFO:1000447|NCIT:C4725|UMLS:C0431128|ICDO:9352/1	mondo.json	papillary craniopharyngioma (morphologic abnormality)|papillary neoplasm of Rathke's pouch|papillary Rathke's pouch neoplasm|craniopharyngioma, papillary (morphologic abnormality)|papillary Rathke pouch neoplasm|craniopharyngioma, papillary|papillary Rathke's pouch tumor|papillary tumor of Rathke's pouch	http://purl.obolibrary.org/obo/MONDO_0002788	NCIT:C4725|UMLS:C0431128|DOID:3847	
MONDO:0026733	biolink:Disease	intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type		OMIM:301039	mondo.json	MRXSHD|intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type, X-linked recessive|Mental Retardation, X-Linked, With Marfanoid Habitus, 2|INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE	http://purl.obolibrary.org/obo/MONDO_0026733	https://omim.org/entry/301039	
MONDO:0000123	biolink:Disease	obsolete factor V and Factor VIII, combined deficiency of			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000123		
MONDO:0002789	biolink:Disease	hemangiopericytic tumor	A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern.	NCIT:C7076|EFO:1000289|UMLS:C0476144|DOID:3850	mondo.json	hemangiopericytic neoplasm	http://purl.obolibrary.org/obo/MONDO_0002789	UMLS:C0476144|NCIT:C7076|DOID:3850	
MONDO:0026730	biolink:Disease	Basilicata-Akhtar syndrome		OMIM:301032	mondo.json	Basilicata-Akhtar syndrome|MRXSBA|Mental Retardation, X-Linked, Syndromic 36|Basilicata-Akhtar syndrome, X-linked dominant|Mental Retardation, X-Linked, Syndromic, Basilicata-Akhtar Type	http://purl.obolibrary.org/obo/MONDO_0026730	https://omim.org/entry/301032	
MONDO:0000122	biolink:Disease	obsolete facial paresis, hereditary congenital			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000122		
HP:0011563	biolink:PhenotypicFeature	Abnormal ventriculoarterial connection	An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta.	UMLS:C4023296	mondo.json	Abnormal ventriculoarterial connexion|Abnormal ventriculo-arterial connection	http://purl.obolibrary.org/obo/HP_0011563		
MONDO:0026731	biolink:Disease	hypothyroidism, congenital, nongoitrous, 8		OMIM:301033	mondo.json	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8|CHNG8	http://purl.obolibrary.org/obo/MONDO_0026731	https://omim.org/entry/301033	
MONDO:0000121	biolink:Disease	obsolete emphysema			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000121		
MONDO:0002783	biolink:Disease	Shwartzman phenomenon	Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (endotoxins) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous thrombosis and necrosis. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of immune system, coagulation, fibrinolysis, and blood flow.	DOID:3825|UMLS:C0037018|GARD:0007636|MESH:D012790	mondo.json	Shwartzman reaction|Shwartzman reaction (function)	http://purl.obolibrary.org/obo/MONDO_0002783	UMLS:C0037018|http://identifiers.org/mesh/D012790|DOID:3825	gard_rare
MONDO:0000128	biolink:Disease	giant axonal neuropathy	A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs.	MESH:D056768|ICD9:349.89|NCIT:C84728|OMIMPS:256850|SCTID:128207002|UMLS:C5200933	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000128	NCIT:C84728|http://identifiers.org/mesh/D056768|https://omim.org/phenotypicSeries/PS256850|http://identifiers.org/snomedct/128207002|UMLS:C5200933	clingen
MONDO:0000127	biolink:Disease	geleophysic dysplasia	Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').	OMIMPS:231050|SCTID:28557005|ICD9:759.89|GARD:0002449|Orphanet:2623|MedDRA:10063361|DOID:0111724	mondo.json	geleophysic dwarfism|geleophysic dwarfism syndrome	http://purl.obolibrary.org/obo/MONDO_0000127	https://omim.org/phenotypicSeries/PS231050|http://identifiers.org/snomedct/28557005|Orphanet:2623|DOID:0111724	ordo_malformation_syndrome
MONDO:0002784	biolink:Disease	obsolete craniopharyngioma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002784		
MONDO:0002785	biolink:Disease	skull base neoplasm	A benign or malignant neoplasm that affects the skull base.	DOID:3842|UMLS:C0376527|MESH:D019292|NCIT:C4676	mondo.json	basicranium neoplasm|tumor of skull base|tumor of the skull base|neoplasm of basicranium|skull base cancer|basicranium tumor|basicranium neoplasm (disease)|neoplasm of skull base|skull base tumor|skull base neoplasm|neoplasm of the skull base|tumor of basicranium|tumors of skull base	http://purl.obolibrary.org/obo/MONDO_0002785	NCIT:C4676|UMLS:C0376527|http://identifiers.org/mesh/D019292|DOID:3842	
UBERON:0011380	biolink:AnatomicalEntity	female external urethral sphincter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011380		
MONDO:0000126	biolink:Disease	obsolete gastric cancer			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000126		
MONDO:0002786	biolink:Disease	diencephalic cancer	A cancer involving a diencephalon.	DOID:3843|NCIT:C5126|UMLS:C1334576	mondo.json	malignant diencephalic tumor|tumor of diencephalon|malignant diencephalic neoplasm|cancer of diencephalon|malignant diencephalic neoplasms|diencephalon cancer|diencephalic neoplasm|malignant diencephalon neoplasm|malignant neoplasm of diencephalon	http://purl.obolibrary.org/obo/MONDO_0002786	UMLS:C1334576|DOID:3843|NCIT:C5126	
MONDO:0000125	biolink:Disease	obsolete fundus dystrophy, pseudoinflammatory			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000125		
MONDO:0002780	biolink:Disease	obsolete MONDO:0002780			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002780		
MONDO:0014749	biolink:Disease	tooth agenesis, selective, 7	Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene.	UMLS:C4225231|OMIM:616724	mondo.json	tooth agenesis, selective, type 7|STHAG7|tooth agenesis, selective, 7; STHAG7|tooth agenesis, selective, 7|tooth agenesis caused by mutation in LRP6|LRP6 tooth agenesis	http://purl.obolibrary.org/obo/MONDO_0014749	https://omim.org/entry/616724|UMLS:C4225231	
MONDO:0002781	biolink:Disease	glossopharyngeal nerve paralysis	Paralysis of the glossopharyngeal nerve.	NCIT:C27335|DOID:3816|UMLS:C0919940	mondo.json	cranial nerve palsy of glossopharyngeal nerve|glossopharyngeal nerve cranial nerve palsy	http://purl.obolibrary.org/obo/MONDO_0002781	UMLS:C0919940|DOID:3816|NCIT:C27335	
MONDO:0002782	biolink:Disease	cranial nerve palsy	Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness.	NCIT:C26941|DOID:3817|UMLS:C0151311	mondo.json	cranial nerve palsies|cranial nerve palsy|cranial nerve paralysis	http://purl.obolibrary.org/obo/MONDO_0002782	UMLS:C0151311|DOID:3817|NCIT:C26941	
MONDO:0014748	biolink:Disease	progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		UMLS:C4225232|Orphanet:457395|OMIM:616723	mondo.json	spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis|spondyloepimetaphyseal dysplasia, faden-Alkuraya type|spondyloepimetaphyseal dysplasia, faden-ALKURAYA type|SEMDFA|spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and intellectual disability, with or without craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0014748	https://omim.org/entry/616723|Orphanet:457395|UMLS:C4225232	ordo_malformation_syndrome
MONDO:0000120	biolink:Disease	obsolete ectopia lentis, isolated			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000120		
MONDO:0014754	biolink:Disease	primary coenzyme Q10 deficiency 8	Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene.	UMLS:C4225226|DOID:0070245|OMIM:616733	mondo.json	coenzyme Q10 deficiency, primary, type 8|COQ10D8|primary coenzyme Q10 deficiency 8|coenzyme Q10 deficiency, primary, 8|coenzyme Q10 deficiency caused by mutation in COQ7|COQ7 coenzyme Q10 deficiency	http://purl.obolibrary.org/obo/MONDO_0014754	DOID:0070245|UMLS:C4225226|https://omim.org/entry/616733	
MONDO:0014753	biolink:Disease	autosomal recessive optic atrophy		OMIM:612989|UMLS:CN229293|Orphanet:98676	mondo.json	autosomal recessive nonsyndromic optic atrophy|autosomal recessive isolated optic atrophy	http://purl.obolibrary.org/obo/MONDO_0014753	UMLS:CN229293|Orphanet:98676	ordo_disease
GO:0120025	biolink:NamedThing	plasma membrane bounded cell projection	A prolongation or process extending from a cell and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon.		mondo.json		http://purl.obolibrary.org/obo/GO_0120025		
MONDO:0014752	biolink:Disease	nephrotic syndrome, type 11	Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene.	UMLS:C4225228|DOID:0080385|OMIM:616730	mondo.json	NPHS11|familial nephrotic syndrome caused by mutation in Nup107|familial nephrotic syndrome caused by mutation in NUP107|nephrotic syndrome, type 11; NPHS11|nephrotic syndrome, type 11|NUP107 familial nephrotic syndrome|Nup107 familial nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0014752	DOID:0080385|UMLS:C4225228|https://omim.org/entry/616730	
MONDO:0014751	biolink:Disease	palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.	UMLS:C4225229|OMIM:616728|Orphanet:477993	mondo.json	palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome|CPRF|cleft palate, psychomotor retardation, and distinctive FACIAL features|cleft palate, psychomotor retardation, and distinctive Facial features	http://purl.obolibrary.org/obo/MONDO_0014751	UMLS:C4225229|Orphanet:477993|https://omim.org/entry/616728	ordo_malformation_syndrome
MONDO:0014758	biolink:Disease	radioulnar synostosis with amegakaryocytic thrombocytopenia 2	Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene.	UMLS:C4225221|OMIM:616738	mondo.json	radioulnar synostosis with amegakaryocytic thrombocytopenia 2|MECOM radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome|radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in MECOM|radioulnar synostosis with amegakaryocytic thrombocytopenia type 2|radioulnar synostosis with amegakaryocytic thrombocytopenia 2; RUSAT2|RUSAT2	http://purl.obolibrary.org/obo/MONDO_0014758	UMLS:C4225221|https://omim.org/entry/616738	
MONDO:0014757	biolink:Disease	macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		UMLS:C4225222|Orphanet:487796|OMIM:616737	mondo.json	Takenouchi-Kosaki syndrome|TKS|macrothrombocytopenia and intellectual disability syndrome|TAKENOUCHI-Kosaki syndrome|macrothrombocytopenia and mental retardation syndrome	http://purl.obolibrary.org/obo/MONDO_0014757	Orphanet:487796|UMLS:C4225222|https://omim.org/entry/616737	ordo_malformation_syndrome
MONDO:0014756	biolink:Disease	tremor, hereditary essential, 5	Any essential tremor in which the cause of the disease is a mutation in the TENM4 gene.	DOID:0111432|OMIM:616736|UMLS:C4225223	mondo.json	tremor, hereditary essential, 5; ETM5|ETM5|essential tremor, hereditary, 5|tremor, hereditary essential, 5|essential tremor caused by mutation in TENM4|tremor, hereditary essential, type 5|TENM4 essential tremor	http://purl.obolibrary.org/obo/MONDO_0014756	UMLS:C4225223|DOID:0111432|https://omim.org/entry/616736	
MONDO:0014755	biolink:Disease	skin creases, congenital symmetric circumferential, 2		OMIM:616734	mondo.json	symmetric circumferential skin creases, congenital, 2|skin creases, congenital symmetric circumferential, 2; CSCSC2|skin creases, congenital symmetric circumferential, type 2|MAPRE2 multiple benign circumferential skin creases on limbs|CSCSC2|skin creases, congenital symmetric circumferential, 2|multiple benign circumferential skin creases on limbs caused by mutation in MAPRE2	http://purl.obolibrary.org/obo/MONDO_0014755	https://omim.org/entry/616734	
MONDO:0026729	biolink:Disease	congenital disorder of glycosylation, type ICC		OMIM:301031	mondo.json	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc|CDG1CC|congenital disorder of glycosylation, type Icc, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0026729	https://omim.org/entry/301031	
HGNC:6283	biolink:NamedThing	KCNK9			mondo.json		http://identifiers.org/hgnc/6283		
MONDO:0026727	biolink:Disease	Shukla-Vernon syndrome		OMIM:301029	mondo.json	SHUKLA-VERNON SYNDROME|SHUVER|Shukla-Vernon syndrome, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0026727	https://omim.org/entry/301029	
HGNC:6284	biolink:NamedThing	KCNMA1			mondo.json		http://identifiers.org/hgnc/6284		
MONDO:0000119	biolink:Disease	congenital heart defects, multiple types			mondo.json	CHTD	http://purl.obolibrary.org/obo/MONDO_0000119		
MONDO:0000118	biolink:Disease	reticulate pigment disorder		OMIMPS:179850	mondo.json	reticulate pigment disorders	http://purl.obolibrary.org/obo/MONDO_0000118	https://omim.org/phenotypicSeries/PS179850	
MONDO:0014750	biolink:Disease	primary ciliary dyskinesia 33	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene.	DOID:0110619|OMIM:616726|UMLS:C4225230	mondo.json	primary ciliary dyskinesia 33 without situs inversus|ciliary dyskinesia, primary, 33, without situs inversus|primary ciliary dyskinesia caused by mutation in GAS8|ciliary dyskinesia, primary, type 33|CILD33|primary ciliary dyskinesia type 33|GAS8 primary ciliary dyskinesia|ciliary dyskinesia, primary, 33	http://purl.obolibrary.org/obo/MONDO_0014750	UMLS:C4225230|https://omim.org/entry/616726|DOID:0110619	
CHEBI:77941	biolink:ChemicalSubstance	EC 3.5.1.4 (amidase) inhibitor	An EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor that interferes with the action of amidase (EC 3.5.1.4).		mondo.json	amidase (EC 3.5.1.4) inhibitors|fatty acylamidase inhibitors|EC 3.5.1.4 (amidase) inhibitors|acylamide amidohydrolase inhibitors|acylamidase inhibitors|acylamidase inhibitor|acylamide amidohydrolase inhibitor|fatty acylamidase inhibitor|amidase (EC 3.5.1.4) inhibitor|N-acetylaminohydrolase inhibitors|amidase inhibitors|deaminase inhibitor|EC 3.5.1.4 inhibitor|amidohydrolase inhibitors|amidohydrolase inhibitor|EC 3.5.1.4 inhibitors|deaminase inhibitors|N-acetylaminohydrolase inhibitor|amidase inhibitor	http://purl.obolibrary.org/obo/CHEBI_77941		
CHEBI:28938	biolink:ChemicalSubstance	ammonium	An onium cation obtained by protonation of ammonia.		mondo.json	ammonium ion|[NH4](+)|Ammonium(1+)|ammonium|ammonium cation|NH4+|azanium|NH4(+)	http://purl.obolibrary.org/obo/CHEBI_28938		
MONDO:0002754	biolink:Disease	extramedullary plasmacytoma	A plasma cell neoplasm arising at an extraosseous site. There is no involvement of the bone marrow. It most frequently involves the oropharynx, nasopharynx, sinuses, and larynx. Other sites of involvement include the gastrointestinal tract, central nervous system, breast, skin, lymph nodes, and bladder. A minority of patients have a monoclonal gammopathy. Treatment includes radiation therapy. Progression to plasma cell myeloma occurs in a minority of patients.	ICD10CM:C90.2|NCIT:C4002|UMLS:C0278619|ONCOTREE:EP|ICDO:9734/3|ICD9:203.80|DOID:3720|SCTID:188718006	mondo.json	EP|extraosseous plasmacytoma|plasmacytoma, extramedullary (not occurring in bone)|plasmacytoma, extramedullary|extramedullary plasmacytoma|extramedullary plasmacytoma (clinical)	http://purl.obolibrary.org/obo/MONDO_0002754	DOID:3720|NCIT:C4002|http://identifiers.org/snomedct/188718006|http://purl.bioontology.org/ontology/ICD10CM/C90.2|UMLS:C0278619	
MONDO:0026721	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 30		OMIM:301021	mondo.json	MC1DN30|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30	http://purl.obolibrary.org/obo/MONDO_0026721	https://omim.org/entry/301021	
MONDO:0026722	biolink:Disease	Mullegama-Klein-Martinez syndrome		OMIM:301022	mondo.json	MKMS|Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities|MULLEGAMA-KLEIN-MARTINEZ SYNDROME	http://purl.obolibrary.org/obo/MONDO_0026722	https://omim.org/entry/301022	
MONDO:0002755	biolink:Disease	solitary osseous plasmacytoma	A localized, clonal (malignant) plasma cell infiltrate in the bone, without peripheral blood involvement. The most commonly affected bones are the vertebrae, ribs, skull, pelvis and femur. X-rays examination reveals a solitary lytic lesion.	UMLS:C0272256|ICD9:238.6|NCIT:C7812|DOID:3722|SCTID:426336007|ONCOTREE:SPB	mondo.json	isolated plasmacytoma of bone|solitary plasmacytoma of bone|isolated osseous plasmacytoma|SPB	http://purl.obolibrary.org/obo/MONDO_0002755	DOID:3722|http://identifiers.org/snomedct/426336007|NCIT:C7812|UMLS:C0272256	
CHEBI:77956	biolink:ChemicalSubstance	L-erythro-sphingosine(1+)	A cationic sphingoid resulting from the protonation of the amino group of L-erythro-sphingosine; major species at pH 7.3.		mondo.json	(2R,3S,4E)-1,3-dihydroxyoctadec-4-en-2-aminium|L-erythro-sphing-4-enine(1+)|L-erythro-sphing-4-enine	http://purl.obolibrary.org/obo/CHEBI_77956		
MONDO:0002756	biolink:Disease	solitary plasmacytoma of chest wall	A solitary plasmacytoma that arises from the chest wall.	NCIT:C6711|DOID:3723|UMLS:C1332936	mondo.json	chest wall solitary plasmacytoma|plasmacytoma of chest wall|solitary plasmacytoma of the chest wall|solitary plasmacytoma of chest wall|chest wall plasmacytoma	http://purl.obolibrary.org/obo/MONDO_0002756	DOID:3723|NCIT:C6711|UMLS:C1332936	
MONDO:0026720	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 12		OMIM:301020	mondo.json	mitochondrial complex i deficiency, nuclear type 12, X-linked recessive|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12|MC1DN12	http://purl.obolibrary.org/obo/MONDO_0026720	https://omim.org/entry/301020	
MONDO:0002757	biolink:Disease	acute allergic sanguinous otitis media	A acute sanguinous otitis media caused by an allergen.	DOID:3728|SCTID:17866004|UMLS:C0155420|ICD9:381.06	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002757	DOID:3728|UMLS:C0155420|http://identifiers.org/snomedct/17866004	
MONDO:0002750	biolink:Disease	bladder colloid adenocarcinoma		DOID:3710|NCIT:C39837|UMLS:C1511193	mondo.json	bladder mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002750	NCIT:C39837|UMLS:C1511193|DOID:3710	
MONDO:0026726	biolink:Disease	nephrotic syndrome, type 20		OMIM:301028|DOID:0070357	mondo.json	NPHS20|NEPHROTIC SYNDROME, TYPE 20	http://purl.obolibrary.org/obo/MONDO_0026726	https://omim.org/entry/301028|DOID:0070357	
MONDO:0002751	biolink:Disease	bladder adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the urinary bladder	ONCOTREE:BLAD|UMLS:C0279682|NCIT:C4032|EFO:1000125|DOID:3711|SCTID:255110003	mondo.json	urinary bladder adenocarcinoma|bladder adenocarcinoma|adenocarcinoma of the urinary bladder|adenocarcinoma of urinary bladder|adenocarcinoma of the bladder|adenocarcinoma of bladder|blad	http://purl.obolibrary.org/obo/MONDO_0002751	NCIT:C4032|UMLS:C0279682|http://identifiers.org/snomedct/255110003|DOID:3711	
MONDO:0002752	biolink:Disease	ovarian adenocarcinoma	An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma.	NCIT:C7700|EFO:0006460|DOID:3713|Orphanet:213504|MedDRA:10051938	mondo.json	adenocarcinoma of ovary|ovarian adenocarcinoma|adenocarcinoma of the ovary|ovary adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002752	Orphanet:213504|NCIT:C7700|DOID:3713	ordo_disease
MONDO:0026723	biolink:Disease	intellectual developmental disorder, X-linked 108		OMIM:301024	mondo.json	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108|intellectual developmental disorder, X-linked 108, X-linked recessive|MRX108|Mental Retardation, X-Linked 108	http://purl.obolibrary.org/obo/MONDO_0026723	https://omim.org/entry/301024	
MONDO:0026724	biolink:Disease	Paganini-Miozzo syndrome		OMIM:301025	mondo.json	Paganini-Miozzo syndrome, X-linked recessive|MRXSPM|mental retardation, X-Linked, syndromic, Paganini-Miozzo type|PAGANINI-MIOZZO SYNDROME	http://purl.obolibrary.org/obo/MONDO_0026724	https://omim.org/entry/301025	
MONDO:0002753	biolink:Disease	obsolete mucinous stomach adenocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002753		
UBERON:0011375	biolink:AnatomicalEntity	skin of prepuce of clitoris			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011375		
MONDO:0014739	biolink:Disease	autosomal recessive nonsyndromic hearing loss 97	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MET gene.	OMIM:616705|UMLS:C4084709|DOID:0110539	mondo.json	autosomal recessive nonsyndromic deafness 97|autosomal recessive nonsyndromic deafness type 97|MET autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in MET|deafness, autosomal recessive 97|deafness, autosomal recessive type 97|DFNB97|autosomal recessive deafness 97	http://purl.obolibrary.org/obo/MONDO_0014739	https://omim.org/entry/616705|DOID:0110539|UMLS:C4084709	
UBERON:0011374	biolink:AnatomicalEntity	prepuce			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011374		
MONDO:0014738	biolink:Disease	autosomal dominant nonsyndromic hearing loss 69	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KITLG gene.	UMLS:C4225241|OMIM:616697|DOID:0110590	mondo.json	KITLG autosomal dominant nonsyndromic deafness|DFNA69|autosomal dominant nonsyndromic deafness caused by mutation in KITLG|deafness, autosomal dominant 69, unilateral or asymmetric|autosomal dominant nonsyndromic deafness 69|deafness, congenital, unilateral or asymmetric|autosomal dominant deafness 69|autosomal dominant nonsyndromic deafness type 69|deafness, autosomal dominant 69|unilateral or asymmetric congenital deafness|DCUA	http://purl.obolibrary.org/obo/MONDO_0014738	UMLS:C4225241|https://omim.org/entry/616697|DOID:0110590	
MONDO:0014737	biolink:Disease	dehydrated hereditary stomatocytosis 2	Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene.	OMIM:616689|DOID:0111577|UMLS:C4225242	mondo.json	dehydrated hereditary stomatocytosis caused by mutation in KCNN4|Desiccytosis Gardos|KCNN4 dehydrated hereditary stomatocytosis|Dehydrated hereditary stomatocytosis 2|xerocytosis Gardos|Dehydrated hereditary stomatocytosis type 2|dehydrated hereditary stomatocytosis 2; DHS2|DHS2	http://purl.obolibrary.org/obo/MONDO_0014737	DOID:0111577|https://omim.org/entry/616689|UMLS:C4225242	
GO:0120039	biolink:NamedThing	plasma membrane bounded cell projection morphogenesis	The process in which the anatomical structures of a plasma membrane bounded cell projection are generated and organized.		mondo.json		http://purl.obolibrary.org/obo/GO_0120039		
UBERON:0011379	biolink:AnatomicalEntity	male external urethral sphincter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011379		
GO:0120035	biolink:NamedThing	regulation of plasma membrane bounded cell projection organization	Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of plasma membrane bounded cell projections.		mondo.json		http://purl.obolibrary.org/obo/GO_0120035		
MONDO:0014743	biolink:Disease	rhizomelic chondrodysplasia punctata type 5	Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene.	Orphanet:468717|UMLS:C4225237|DOID:0110854|OMIM:616716	mondo.json	RCDP5|Rcdp5|rhizomelic chondrodysplasia punctata caused by mutation in PEX5|rhizomelic chondrodysplasia punctata type 5|rhizomelic chondrodysplasia punctata, type 5|PEX5 rhizomelic chondrodysplasia punctata	http://purl.obolibrary.org/obo/MONDO_0014743	DOID:0110854|Orphanet:468717|UMLS:C4225237|https://omim.org/entry/616716	ordo_malformation_syndrome
MONDO:0014742	biolink:Disease	Parkinson disease 22, autosomal dominant	Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene.	DOID:0080504|UMLS:C4225238|OMIM:616710	mondo.json	PARK22|Parkinson disease 22, autosomal dominant|Parkinson disease 22, autosomal dominant; PARK22|CHCHD2 Parkinson disease|Parkinson disease caused by mutation in CHCHD2	http://purl.obolibrary.org/obo/MONDO_0014742	DOID:0080504|UMLS:C4225238|https://omim.org/entry/616710	
GO:0120036	biolink:NamedThing	plasma membrane bounded cell projection organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a plasma membrane bounded prolongation or process extending from a cell, e.g. a cilium or axon.		mondo.json		http://purl.obolibrary.org/obo/GO_0120036		
MONDO:0014741	biolink:Disease	DeSanto-Shinawi syndrome due to WAC point mutation		OMIM:616708|UMLS:CN242167|UMLS:C4225239|Orphanet:466950	mondo.json	Desanto-Shinawi syndrome|DESANTO-SHINAWI syndrome|developmental delay, behavioral abnormalities, Facial Dysmorphism, and ocular abnormalities|DESSH|chromosome 10P12-p11 deletion syndrome|facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	http://purl.obolibrary.org/obo/MONDO_0014741	UMLS:CN242167|Orphanet:466950|UMLS:C4225239|https://omim.org/entry/616708	ordo_clinical_subtype
GO:0120038	biolink:NamedThing	obsolete plasma membrane bounded cell projection part	OBSOLETE. Any constituent part of a plasma membrane bounded cell projection, a prolongation or process extending from a cell, e.g. a cilium or axon.		mondo.json		http://purl.obolibrary.org/obo/GO_0120038		
MONDO:0014740	biolink:Disease	autosomal dominant nonsyndromic hearing loss 68	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene.	UMLS:C4225240|OMIM:616707|DOID:0110589	mondo.json	deafness, autosomal dominant 68|HOMER2 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness 68|autosomal dominant nonsyndromic deafness type 68|DFNA68|autosomal dominant nonsyndromic deafness caused by mutation in HOMER2|autosomal dominant deafness 68|deafness, autosomal dominant type 68	http://purl.obolibrary.org/obo/MONDO_0014740	UMLS:C4225240|https://omim.org/entry/616707|DOID:0110589	
MONDO:0014747	biolink:Disease	familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome		UMLS:C4225233|Orphanet:488197|OMIM:616722	mondo.json	retinal dystrophy and iris coloboma with or without congenital cataract|RDICC|retinal dystrophy and iris coloboma with or without cataract	http://purl.obolibrary.org/obo/MONDO_0014747	https://omim.org/entry/616722|Orphanet:488197|UMLS:C4225233	ordo_disease
GO:0120031	biolink:NamedThing	plasma membrane bounded cell projection assembly	Formation of a prolongation or process extending and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon.		mondo.json	eupodium	http://purl.obolibrary.org/obo/GO_0120031		
NCBITaxon:121739	biolink:OrganismalEntity	Lacazia		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_121739		
MONDO:0014746	biolink:Disease	SLC39A8-CDG		Orphanet:468699|UMLS:C4225234|OMIM:616721|UMLS:CN234734|DOID:0070266	mondo.json	congenital disorder of glycosylation type IIn|CDG syndrome type IIn|congenital disorder of glycosylation type 2n|CDG2N|CDG-IIn|carbohydrate deficient glycoprotein syndrome type IIn|congenital disorder of glycosylation, type IIn|SLC39A8 deficiency|CDG IIn	http://purl.obolibrary.org/obo/MONDO_0014746	https://omim.org/entry/616721|UMLS:CN234734|DOID:0070266|Orphanet:468699|UMLS:C4225234	ordo_disease
GO:0120032	biolink:NamedThing	regulation of plasma membrane bounded cell projection assembly	Any process that modulates the rate, frequency, or extent of plasma membrane bounded cell projection assembly.		mondo.json		http://purl.obolibrary.org/obo/GO_0120032		
MONDO:0014745	biolink:Disease	congenital myasthenic syndrome 19	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene.	OMIM:616720|DOID:0110673|UMLS:C4225235	mondo.json	CMS19|congenital myasthenic syndrome type 19|myasthenic syndrome, congenital, type 19|congenital myasthenic syndrome caused by mutation in COL13A1|COL13A1 congenital myasthenic syndrome|myasthenic syndrome, congenital, 19	http://purl.obolibrary.org/obo/MONDO_0014745	DOID:0110673|UMLS:C4225235|https://omim.org/entry/616720	
GO:0120033	biolink:NamedThing	negative regulation of plasma membrane bounded cell projection assembly	Any process that stops, prevents or reduces the frequency, rate or extent of plasma membrane bounded cell projection assembly.		mondo.json		http://purl.obolibrary.org/obo/GO_0120033		
MONDO:0014744	biolink:Disease	acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.	Orphanet:466794|DOID:0111155|OMIM:616719|UMLS:C4225236	mondo.json	spinocerebellar ataxia, autosomal recessive 21|spinocerebellar ataxia, autosomal recessive 21, with hepatopathy|autosomal recessive spinocerebellar ataxia 21|autosomal recessive spinocerebellar ataxia 21 with hepatopathy|autosomal recessive spinocerebellar ataxia type 21|SCAR21|spinocerebellar ataxia, autosomal recessive type 21|acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	http://purl.obolibrary.org/obo/MONDO_0014744	Orphanet:466794|DOID:0111155|UMLS:C4225236|https://omim.org/entry/616719	ordo_disease
GO:0120034	biolink:NamedThing	positive regulation of plasma membrane bounded cell projection assembly	Any process that activates or increases the frequency, rate or extent of plasma membrane bounded cell projection assembly.		mondo.json		http://purl.obolibrary.org/obo/GO_0120034		
HGNC:6293	biolink:NamedThing	KCNN4			mondo.json		http://identifiers.org/hgnc/6293		
HGNC:6294	biolink:NamedThing	KCNQ1			mondo.json		http://identifiers.org/hgnc/6294		
HGNC:6295	biolink:NamedThing	KCNQ1OT1			mondo.json		http://identifiers.org/hgnc/6295		
HGNC:6296	biolink:NamedThing	KCNQ2			mondo.json		http://identifiers.org/hgnc/6296		
MONDO:0002747	biolink:Disease	endometrial mucinous adenocarcinoma	A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin.	DOID:3707|NCIT:C40144|ONCOTREE:UMC|EFO:1000236|UMLS:C1519859	mondo.json	uterine corpus mucinous adenocarcinoma|endometrial mucinous adenocarcinoma|uterine mucinous carcinoma|endometrium mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002747	DOID:3707|UMLS:C1519859|NCIT:C40144	
HGNC:6297	biolink:NamedThing	KCNQ3			mondo.json		http://identifiers.org/hgnc/6297		
MONDO:0002748	biolink:Disease	rectum mucinous adenocarcinoma	An invasive adenocarcinoma of the rectum characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.	UMLS:C0279652|DOID:3709|NCIT:C7973	mondo.json	rectum mucinous adenocarcinoma|mucinous adenocarcinoma of rectum|rectal colloidal adenocarcinoma|mucinous adenocarcinoma of the rectum|colloid adenocarcinoma of rectum|colloidal adenocarcinoma of rectum|colloid adenocarcinoma of the rectum|rectal colloid adenocarcinoma|rectal mucinous adenocarcinoma|colloidal adenocarcinoma of the rectum	http://purl.obolibrary.org/obo/MONDO_0002748	DOID:3709|NCIT:C7973|UMLS:C0279652	
HGNC:6298	biolink:NamedThing	KCNQ4			mondo.json		http://identifiers.org/hgnc/6298		
MONDO:0002749	biolink:Disease	extracranial neuroblastoma	A neuroblastoma arising from an anatomic site other than the brain.	NCIT:C5437|UMLS:C1333499|DOID:371	mondo.json	extracranial neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0002749	NCIT:C5437|UMLS:C1333499|DOID:371	
MONDO:0002765	biolink:Disease	plantar verrucous skin carcinoma	A verrucous carcinoma that involves the plantar part of pes.	UMLS:C1335424|DOID:3751|NCIT:C6811	mondo.json	plantar verrucous carcinoma of skin|plantar verrucous skin carcinoma|plantar verrucous carcinoma of the skin|plantar part of pes verrucous carcinoma	http://purl.obolibrary.org/obo/MONDO_0002765	NCIT:C6811|DOID:3751	
MONDO:0000102	biolink:Disease	obsolete vertigo			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000102		
MONDO:0002766	biolink:Disease	larynx verrucous carcinoma	A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction.	SCTID:707427000|NCIT:C8188|UMLS:C0280328|DOID:3752	mondo.json	verrucous carcinoma of the larynx|laryngeal verrucous carcinoma|laryngeal throat verrucous cancer|verrucous carcinoma of larynx|larynx verrucous carcinoma	http://purl.obolibrary.org/obo/MONDO_0002766	http://identifiers.org/snomedct/707427000|NCIT:C8188|UMLS:C0280328|DOID:3752	
MONDO:0000101	biolink:Disease	obsolete tumoral calcinosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000101		
MONDO:0000100	biolink:Disease	obsolete trichorhinophalangeal syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000100		
MONDO:0002767	biolink:Disease	obsolete protein C deficiency	OBSOLETE. A rare thrombophilia disorder characterized by deficiency of protein C. It results in venous thromboembolism.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0002767		
MONDO:0002768	biolink:Disease	true hermaphroditism	A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia.	SCTID:237821001|UMLS:C0019269|PATO:0001340|DOID:3763|NCIT:C85207	mondo.json	ovotestis|hermaphroditism|true hermaphroditism	http://purl.obolibrary.org/obo/MONDO_0002768	DOID:3763|NCIT:C85207|http://identifiers.org/snomedct/237821001|UMLS:C0019269	
MONDO:0002761	biolink:Disease	cervical verrucous carcinoma	A highly differentiated variant of cervical squamous cell carcinoma characterized by the presence of a warty surface and stromal invasion with pushing borders. The malignant cells have abundant cytoplasm and minimal nuclear atypia. Koilocytosis is not present.	NCIT:C40190|DOID:3743|UMLS:C1516435	mondo.json	cervical verrucous carcinoma|uterine cervix verrucous carcinoma	http://purl.obolibrary.org/obo/MONDO_0002761	UMLS:C1516435|NCIT:C40190|DOID:3743	
MONDO:0000106	biolink:Disease	obsolete apnea			mondo.json	obsolete apnea (disease)|apnea	http://purl.obolibrary.org/obo/MONDO_0000106		
MONDO:0002762	biolink:Disease	esophagus verrucous carcinoma	A rare variant of esophageal squamous cell carcinoma. It is an exophytic, cauliflower-like or papillary mass that can arise in any part of the esophagus. This variant of squamous cell carcinoma grows slowly and invades locally, with a very low metastasizing potential. (WHO)	NCIT:C27420|DOID:3747|UMLS:C1333470	mondo.json	verrucous carcinoma of the esophagus|verrucous carcinoma of esophagus|esophagus verrucous carcinoma|esophageal verrucous carcinoma|esophageal verrucous cancer	http://purl.obolibrary.org/obo/MONDO_0002762	UMLS:C1333470|DOID:3747|NCIT:C27420	
MONDO:0000105	biolink:Disease	anemia, nonspherocytic hemolytic			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000105		
MONDO:0002763	biolink:Disease	urethral verrucous carcinoma	A verrucous carcinoma that involves the urethra.	DOID:3749|UMLS:C1519827|NCIT:C39874	mondo.json	urethra verrucous carcinoma|urethral verrucous carcinoma	http://purl.obolibrary.org/obo/MONDO_0002763	UMLS:C1519827|NCIT:C39874|DOID:3749	
MONDO:0000104	biolink:Disease	anemia, hypochromic microcytic with iron overload		MESH:C567144|OMIMPS:206100|UMLS:C2673913	mondo.json	anemia, hypochromic microcytic, with iron overload	http://purl.obolibrary.org/obo/MONDO_0000104	UMLS:C2673913|http://identifiers.org/mesh/C567144|https://omim.org/phenotypicSeries/PS206100	
MONDO:0002764	biolink:Disease	urethra squamous cell carcinoma	A well differentiated, moderately differentiated, or poorly differentiated squamous cell carcinoma that arises from the male or female urethra.	ONCOTREE:USCC|NCIT:C6165|DOID:3750|UMLS:C1336890	mondo.json	squamous cell carcinoma of the urethra|squamous cell carcinoma of urethra|urethral epidermoid carcinoma|urethra squamous cell carcinoma|urethral squamous cell carcinoma|urethral squamous cell cancer|urethra epidermoid carcinoma|epidermoid carcinoma of the urethra|USCC|epidermoid carcinoma of urethra	http://purl.obolibrary.org/obo/MONDO_0002764	UMLS:C1336890|DOID:3750|NCIT:C6165	
HP:0011545	biolink:PhenotypicFeature	Abnormal connection of the cardiac segments	A deviance in the normal connections between two cardiac segements.	UMLS:C4023306	mondo.json	Discordant connection of the cardiac segments|Abnormal connexion of the cardiac segments	http://purl.obolibrary.org/obo/HP_0011545		
MONDO:0000103	biolink:Disease	obsolete Wilms tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000103		
MONDO:0014729	biolink:Disease	hereditary spastic paraplegia 75	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the MAG gene.	DOID:0110820|EFO:0009018|Orphanet:459056|UMLS:C4225250|OMIM:616680	mondo.json	MAG hereditary spastic paraplegia|spastic paraplegia 75, autosomal recessive|autosomal recessive spastic paraplegia type 75|hereditary spastic paraplegia caused by mutation in MAG|SPG75|autosomal recessive spastic paraplegia 75|hereditary spastic paraplegia type 75	http://purl.obolibrary.org/obo/MONDO_0014729	UMLS:C4225250|Orphanet:459056|https://omim.org/entry/616680|DOID:0110820	ordo_disease
UBERON:0011364	biolink:AnatomicalEntity	cleidocephalicus muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011364		
MONDO:0014728	biolink:Disease	combined oxidative phosphorylation defect type 27	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene.	Orphanet:477774|DOID:0111489|EFO:0009037|UMLS:C4225251|OMIM:616672	mondo.json	COXPD27|combined oxidative phosphorylation deficiency 27|combined oxidative phosphorylation deficiency type 27|CARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in CARS2	http://purl.obolibrary.org/obo/MONDO_0014728	UMLS:C4225251|DOID:0111489|https://omim.org/entry/616672|Orphanet:477774	ordo_disease
UBERON:0011363	biolink:AnatomicalEntity	cranial lymph vasculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011363		
MONDO:0014727	biolink:Disease	immunodeficiency 45		OMIM:616669|UMLS:C4225252	mondo.json	IMD45|immunodeficiency type 45|immunodeficiency 45	http://purl.obolibrary.org/obo/MONDO_0014727	UMLS:C4225252|https://omim.org/entry/616669	
UBERON:0011362	biolink:AnatomicalEntity	cranial blood vasculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011362		
MONDO:0014726	biolink:Disease	Charcot-Marie-Tooth disease axonal type 2X	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene.	Orphanet:466775|UMLS:C4225253|DOID:0110176|OMIM:616668|EFO:1001983	mondo.json	Charcot-Marie-Tooth neuropathy, type 2X|Charcot-Marie-Tooth neuropathy type 2X|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2X|ARCMT2X|SPG11 Charcot-Marie-Tooth disease|autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation|autosomal recessive Charcot-Marie-Tooth disease type 2X|Charcot-Marie-Tooth disease, axonal, type 2x|autosomal recessive axonal Charcot-Marie-Tooth disease type 2X|Charcot-Marie-Tooth disease caused by mutation in SPG11|CMT2X|autosomal recessive Charcot Marie Tooth disease type 2X|Charcot-Marie-Tooth disease, axonal, type 2X	http://purl.obolibrary.org/obo/MONDO_0014726	Orphanet:466775|UMLS:C4225253|DOID:0110176|https://omim.org/entry/616668	ordo_disease
MONDO:0002760	biolink:Disease	bladder squamous cell carcinoma	A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming.	NCIT:C4031|ONCOTREE:BLSC|DOID:3742|EFO:1000130|UMLS:C0279681|SCTID:255111004	mondo.json	squamous cell carcinoma of urinary bladder|urinary bladder squamous cell carcinoma|squamous cell carcinoma of the bladder|urinary bladder epidermoid carcinoma|squamous cell carcinoma of bladder|bladder squamous cell cancer|epidermoid carcinoma of the urinary bladder|epidermoid carcinoma of urinary bladder|bladder squamous cell carcinoma|epidermoid carcinoma of the bladder|epidermoid carcinoma of bladder|bladder epidermoid carcinoma|BLSC|squamous cell carcinoma of the urinary bladder	http://purl.obolibrary.org/obo/MONDO_0002760	UMLS:C0279681|http://identifiers.org/snomedct/255111004|DOID:3742|NCIT:C4031	
UBERON:0011368	biolink:AnatomicalEntity	brachiocephalic muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011368		
UBERON:0035313	biolink:AnatomicalEntity	posterior wall of laryngopharynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035313		
UBERON:0011366	biolink:AnatomicalEntity	cleidobrachialis muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011366		
MONDO:0014732	biolink:Disease	hypomyelinating leukodystrophy 12	Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene.	Orphanet:466934|DOID:0060796|OMIM:616683|UMLS:C4225247	mondo.json	VPS11-related autosomal recessive hypomyelinating leukoencephalopathy|leukodystrophy, hypomyelinating, type 12|hypomyelinating leukodystrophy type 12|VPS11-related autosomal recessive hypomyelinating leukodystrophy|VPS11 leukodystrophy|HLD12|leukodystrophy caused by mutation in VPS11|leukodystrophy, hypomyelinating, 12	http://purl.obolibrary.org/obo/MONDO_0014732	DOID:0060796|UMLS:C4225247|Orphanet:466934|https://omim.org/entry/616683	ordo_disease
MONDO:0014731	biolink:Disease	seizures-scoliosis-macrocephaly syndrome	Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.	OMIM:616682|GARD:0009960|Orphanet:466926|UMLS:C4225248	mondo.json	SSMS|SSM syndrome|seizures, scoliosis, and macrocephaly syndrome	http://purl.obolibrary.org/obo/MONDO_0014731	Orphanet:466926|UMLS:C4225248|https://omim.org/entry/616682	ordo_disease
MONDO:0014730	biolink:Disease	microcephaly 16, primary, autosomal recessive		OMIM:616681|UMLS:C4225249|DOID:0070289	mondo.json	microcephaly 16, primary, autosomal recessive; MCPH16|MCPH16|microcephaly 16, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0014730	DOID:0070289|UMLS:C4225249|https://omim.org/entry/616681	
UBERON:0035307	biolink:AnatomicalEntity	branch of vertebral artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035307		
MONDO:0014736	biolink:Disease	Charcot-Marie-Tooth disease axonal type 2Z	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene.	UMLS:C4225243|Orphanet:466768|OMIM:616688|DOID:0110181	mondo.json	Charcot-Marie-Tooth disease, axonal, type 2z|autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z|Charcot-Marie-Tooth disease caused by mutation in MORC2|autosomal dominant Charcot-Marie-Tooth disease type 2Z|CMT2Z|Charcot-Marie-Tooth disease, axonal, type 2Z|Charcot-Marie-Tooth neuropathy type 2Z|Charcot-Marie-Tooth neuropathy, type 2Z|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Z|MORC2 Charcot-Marie-Tooth disease|autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation	http://purl.obolibrary.org/obo/MONDO_0014736	DOID:0110181|https://omim.org/entry/616688|Orphanet:466768|UMLS:C4225243	ordo_disease
MONDO:0014735	biolink:Disease	Charcot-Marie-Tooth disease type 2Y	Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene.	UMLS:C4225244|DOID:0110168|OMIM:616687|Orphanet:435387	mondo.json	Charcot-Marie-Tooth disease, axonal, type 2y|Charcot-Marie-Tooth disease, type 2Y|CMT2Y|Charcot-Marie-Tooth disease, axonal, type 2Y|autosomal dominant axonal Charcot-Marie-Tooth type 2Y|Charcot-Marie-Tooth neuropathy, type 2Y|autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation|autosomal dominant Charcot-Marie-Tooth disease type 2Y|CMT2 due to VCP mutation|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Y|Charcot-Marie-Tooth disease type 2 caused by mutation in VCP|Charcot-Marie-Tooth neuropathy type 2Y|VCP Charcot-Marie-Tooth disease type 2	http://purl.obolibrary.org/obo/MONDO_0014735	DOID:0110168|https://omim.org/entry/616687|UMLS:C4225244|Orphanet:435387	ordo_disease
MONDO:0014734	biolink:Disease	epilepsy, idiopathic generalized, susceptibility to, 14		DOID:0111315|OMIM:616685	mondo.json	susceptibility to idiopathic generalized epilepsy 14|epilepsy, idiopathic generalized, susceptibility to, 14|epilepsy, idiopathic generalized, susceptibility to, type 14|epilepsy, idiopathic generalized, susceptibility to, 14; EIG14|EIG14	http://purl.obolibrary.org/obo/MONDO_0014734	https://omim.org/entry/616685|DOID:0111315	predisposition
MONDO:0014733	biolink:Disease	Charcot-Marie-Tooth disease type 4K	SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).	UMLS:C4225246|Orphanet:391351|SCTID:765047006|DOID:0110187|OMIM:616684	mondo.json	autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K|Charcot-Marie-Tooth disease type 4 caused by mutation in SURF1|SURF1 Charcot-Marie-Tooth disease type 4|SURF1-related severe demyelinating Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4K|Charcot-Marie-Tooth disease, type 4k|SURF1-related Charcot-Marie-Tooth disease type 4|CMT4K|SURF1-related CMT4|Charcot-Marie-Tooth disease, type 4K|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K|Charcot-Marie-Tooth disease type 4K|Charcot-Marie-Tooth neuropathy, demyelinating, autosomal recessive, type 4K	http://purl.obolibrary.org/obo/MONDO_0014733	https://omim.org/entry/616684|UMLS:C4225246|Orphanet:391351|http://identifiers.org/snomedct/765047006|DOID:0110187	ordo_disease
MONDO:0002758	biolink:Disease	vulva verrucous carcinoma	A highly differentiated squamous cell carcinoma that arises from the vulva. It is characterized by the presence of a warty and hyperkeratinized surface, malignant cells with abundant eosinophilic cytoplasm, minimal cytologic atypia, and absence or rarity of mitotic figures. The tumor infiltrates the underlying stroma with a pushing border.	DOID:3740|UMLS:C1336983|NCIT:C6383	mondo.json	verrucous carcinoma of vulva|vulvar verrucous carcinoma|mammalian vulva verrucous carcinoma|verrucous carcinoma of the vulva	http://purl.obolibrary.org/obo/MONDO_0002758	NCIT:C6383|DOID:3740|UMLS:C1336983	
MONDO:0002759	biolink:Disease	bladder verrucous carcinoma	A verrucous carcinoma that involves the urinary bladder.	DOID:3741|NCIT:C39832|UMLS:C1511208	mondo.json	urinary bladder verrucous carcinoma|bladder verrucous carcinoma|bladder verrucous squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002759	UMLS:C1511208|DOID:3741|NCIT:C39832	
GO:0002863	biolink:NamedThing	positive regulation of inflammatory response to antigenic stimulus	Any process that activates or increases the frequency, rate, or extent of an inflammatory response to an antigenic stimulus.		mondo.json	stimulation of inflammatory response to antigenic stimulus|upregulation of inflammatory response to antigenic stimulus|up-regulation of inflammatory response to antigenic stimulus|up regulation of inflammatory response to antigenic stimulus|activation of inflammatory response to antigenic stimulus	http://purl.obolibrary.org/obo/GO_0002863		
GO:0002864	biolink:NamedThing	regulation of acute inflammatory response to antigenic stimulus	Any process that modulates the frequency, rate, or extent of an acute inflammatory response to an antigenic stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0002864		
GO:0002865	biolink:NamedThing	negative regulation of acute inflammatory response to antigenic stimulus	Any process that stops, prevents, or reduces the frequency, rate, or extent of an acute inflammatory response to an antigenic stimulus.		mondo.json	down regulation of acute inflammatory response to antigenic stimulus|inhibition of acute inflammatory response to antigenic stimulus|downregulation of acute inflammatory response to antigenic stimulus|down-regulation of acute inflammatory response to antigenic stimulus	http://purl.obolibrary.org/obo/GO_0002865		
UBERON:0001949	biolink:AnatomicalEntity	gingival epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001949		
GO:0002866	biolink:NamedThing	positive regulation of acute inflammatory response to antigenic stimulus	Any process that activates or increases the frequency, rate, or extent of an acute inflammatory response to an antigenic stimulus.		mondo.json	up-regulation of acute inflammatory response to antigenic stimulus|up regulation of acute inflammatory response to antigenic stimulus|activation of acute inflammatory response to antigenic stimulus|stimulation of acute inflammatory response to antigenic stimulus|upregulation of acute inflammatory response to antigenic stimulus	http://purl.obolibrary.org/obo/GO_0002866		
UBERON:0001948	biolink:AnatomicalEntity	regional part of spinal cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001948		
UBERON:0001943	biolink:AnatomicalEntity	midbrain tegmentum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001943		
GO:0002861	biolink:NamedThing	regulation of inflammatory response to antigenic stimulus	Any process that modulates the frequency, rate, or extent of an inflammatory response to an antigenic stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0002861		
GO:0002862	biolink:NamedThing	negative regulation of inflammatory response to antigenic stimulus	Any process that stops, prevents, or reduces the frequency, rate, or extent of an inflammatory response to an antigenic stimulus.		mondo.json	down-regulation of inflammatory response to antigenic stimulus|down regulation of inflammatory response to antigenic stimulus|inhibition of inflammatory response to antigenic stimulus|downregulation of inflammatory response to antigenic stimulus	http://purl.obolibrary.org/obo/GO_0002862		
GO:0014848	biolink:NamedThing	urinary tract smooth muscle contraction	A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the urinary tract. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The urinary tract consists of organs of the body that produce and discharge urine. These include the kidneys, ureters, bladder, and urethra.		mondo.json		http://purl.obolibrary.org/obo/GO_0014848		
HGNC:8806	biolink:NamedThing	PDHA1			mondo.json		http://identifiers.org/hgnc/8806		
HGNC:8808	biolink:NamedThing	PDHB			mondo.json		http://identifiers.org/hgnc/8808		
UBERON:8410056	biolink:AnatomicalEntity	capillary of anorectum			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410056		
UBERON:0001950	biolink:AnatomicalEntity	neocortex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001950		
UBERON:8410057	biolink:AnatomicalEntity	capillary of colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410057		
UBERON:0001952	biolink:AnatomicalEntity	epithelium of oropharynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001952		
UBERON:0001951	biolink:AnatomicalEntity	epithelium of nasopharynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001951		
GO:0048199	biolink:NamedThing	vesicle targeting, to, from or within Golgi	The process in which vesicles are directed to specific destination membranes during transport to, from or within the Golgi apparatus; mediated by the addition of specific coat proteins, including COPI and COPII proteins and clathrin, to the membrane during vesicle formation.		mondo.json	Golgi vesicle targeting|dictyosome vesicle targeting|vesicle targeting, to, from or within dictyosome	http://purl.obolibrary.org/obo/GO_0048199		
UBERON:8410050	biolink:AnatomicalEntity	anorectum			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410050		
UBERON:8410051	biolink:AnatomicalEntity	lymphatic vessel of colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410051		
GO:0048193	biolink:NamedThing	Golgi vesicle transport	The directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles.		mondo.json	Golgi-derived vesicle transport	http://purl.obolibrary.org/obo/GO_0048193		
HGNC:8818	biolink:NamedThing	SLC26A4			mondo.json		http://identifiers.org/hgnc/8818		
HGNC:8819	biolink:NamedThing	PDXK			mondo.json		http://identifiers.org/hgnc/8819		
HGNC:8820	biolink:NamedThing	PDYN			mondo.json		http://identifiers.org/hgnc/8820		
HGNC:8824	biolink:NamedThing	SERPINF1			mondo.json		http://identifiers.org/hgnc/8824		
UBERON:8410045	biolink:AnatomicalEntity	artery of appendix			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410045		
UBERON:8410048	biolink:AnatomicalEntity	venule of colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410048		
UBERON:8410049	biolink:AnatomicalEntity	serosal nerve fiber of appendix			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410049		
UBERON:8410041	biolink:AnatomicalEntity	venule of lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410041		
UBERON:8410042	biolink:AnatomicalEntity	arteriole of lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410042		
UBERON:8410043	biolink:AnatomicalEntity	bronchus submucosal gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410043		
UBERON:8410044	biolink:AnatomicalEntity	vein of appendix			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410044		
CHR:9606-chr16q24.3	biolink:NamedThing	16q24.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr16q24.3		
CHR:9606-chr16q24.1	biolink:NamedThing	16q24.1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr16q24.1		
GO:0014821	biolink:NamedThing	phasic smooth muscle contraction	A process in which force is generated within phasic smooth muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. In the phasic smooth muscle, the muscle contraction occurs without an ordered sarcomeric structure. Phasic smooth muscle contraction occurs in a series of discrete contractions and relaxations.		mondo.json		http://purl.obolibrary.org/obo/GO_0014821		
UBERON:8410034	biolink:AnatomicalEntity	lymph node artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410034		
UBERON:8410035	biolink:AnatomicalEntity	medullary arteriole of lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410035		
UBERON:8410036	biolink:AnatomicalEntity	medullary venule of lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410036		
UBERON:0001913	biolink:AnatomicalEntity	milk	An emulsion of fat globules within a fluid that is secreted by the mammary gland during lactation.		mondo.json	mammary gland milk|mammal milk	http://purl.obolibrary.org/obo/UBERON_0001913		
UBERON:0001916	biolink:AnatomicalEntity	endothelium of arteriole			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001916		
UBERON:0001915	biolink:AnatomicalEntity	endothelium of capillary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001915		
UBERON:8410030	biolink:AnatomicalEntity	lymphatic vessel of appendix			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410030		
UBERON:0001912	biolink:AnatomicalEntity	lobule of mammary gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001912		
UBERON:8410032	biolink:AnatomicalEntity	trabecular sinus of lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410032		
UBERON:0001911	biolink:AnatomicalEntity	mammary gland	A specialized accessory gland of the skin of mammals that secretes milk. The gland is typically only developed in females, and regresses in males.		mondo.json	glandula mammaria|lactiferous gland	http://purl.obolibrary.org/obo/UBERON_0001911		
UBERON:8410033	biolink:AnatomicalEntity	lymph node vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410033		
CHEBI:26375	biolink:ChemicalSubstance	pterins			mondo.json		http://purl.obolibrary.org/obo/CHEBI_26375		
UBERON:0001918	biolink:AnatomicalEntity	endothelium of venule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001918		
UBERON:0001917	biolink:AnatomicalEntity	endothelium of artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001917		
NCBITaxon:1335626	biolink:OrganismalEntity	Middle East respiratory syndrome-related coronavirus		GC_ID:1	mondo.json	MERS virus|Middle East respiratory syndrome coronavirus|MERS|MERS-CoV|Middle East Respiratory Syndrome Coronavirus (MERS-CoV)|MERS coronavirus	http://purl.obolibrary.org/obo/NCBITaxon_1335626		
UBERON:0001919	biolink:AnatomicalEntity	endothelium of vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001919		
CHEBI:26373	biolink:ChemicalSubstance	pteridines			mondo.json		http://purl.obolibrary.org/obo/CHEBI_26373		
GO:0061178	biolink:NamedThing	regulation of insulin secretion involved in cellular response to glucose stimulus	Any process that modulates the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose.		mondo.json	regulation of insulin secretion in response to glucose	http://purl.obolibrary.org/obo/GO_0061178		
GO:0061179	biolink:NamedThing	negative regulation of insulin secretion involved in cellular response to glucose stimulus	Any process that decreases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose.		mondo.json	negative regulation of insulin secretion in response to glucose|negative regulation of insulin secretion involved in cellular response to glucose	http://purl.obolibrary.org/obo/GO_0061179		
HGNC:8847	biolink:NamedThing	PER3			mondo.json		http://identifiers.org/hgnc/8847		
HGNC:8846	biolink:NamedThing	PER2			mondo.json		http://identifiers.org/hgnc/8846		
GO:0014832	biolink:NamedThing	urinary bladder smooth muscle contraction	A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the urinary bladder. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The urinary bladder is a musculomembranous sac along the urinary tract.		mondo.json		http://purl.obolibrary.org/obo/GO_0014832		
UBERON:8410024	biolink:AnatomicalEntity	intestinal junction			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410024		
UBERON:8410028	biolink:AnatomicalEntity	arteriole of appendix			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410028		
HGNC:8840	biolink:NamedThing	PEPD			mondo.json		http://identifiers.org/hgnc/8840		
GO:0002820	biolink:NamedThing	negative regulation of adaptive immune response	Any process that stops, prevents, or reduces the frequency, rate, or extent of an adaptive immune response.		mondo.json	down regulation of adaptive immune response|inhibition of adaptive immune response|down-regulation of adaptive immune response|downregulation of adaptive immune response	http://purl.obolibrary.org/obo/GO_0002820		
GO:0002821	biolink:NamedThing	positive regulation of adaptive immune response	Any process that activates or increases the frequency, rate, or extent of an adaptive immune response.		mondo.json	upregulation of adaptive immune response|stimulation of adaptive immune response|up regulation of adaptive immune response|up-regulation of adaptive immune response|activation of adaptive immune response	http://purl.obolibrary.org/obo/GO_0002821		
GO:0002822	biolink:NamedThing	regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains	Any process that modulates the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata.		mondo.json		http://purl.obolibrary.org/obo/GO_0002822		
UBERON:0001987	biolink:AnatomicalEntity	placenta			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001987		
UBERON:0001986	biolink:AnatomicalEntity	endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001986		
UBERON:0001988	biolink:AnatomicalEntity	feces	Portion of semisolid bodily waste discharged through the anus[MW,modified]		mondo.json	ordure|portion of feces|matières fécales@fr|fecal matter|portion of fecal matter|portion of excrement|spoor|merde@fr|porción de mierda@en|portion of dung|dung|partie de la merde@fr|droppings|excrement|teil der fäkalien@de|frass|stool|guano|portion of guano|fewmet|spraint|portion of scat|scat|fecal material|portion of fecal material|portion of faeces|faeces|piece of shit|portionem cacas|excreta|cow dung|cow pat	http://purl.obolibrary.org/obo/UBERON_0001988		
CHEBI:26348	biolink:ChemicalSubstance	prosthetic group	A tightly bound, specific nonpolypeptide unit in a protein determining and involved in its biological activity.		mondo.json	groupe prosthetique|prosthetic group|prosthetic groups	http://purl.obolibrary.org/obo/CHEBI_26348		
HGNC:8854	biolink:NamedThing	PEX12			mondo.json		http://identifiers.org/hgnc/8854		
HGNC:8853	biolink:NamedThing	PEX11B			mondo.json		http://identifiers.org/hgnc/8853		
HGNC:8856	biolink:NamedThing	PEX14			mondo.json		http://identifiers.org/hgnc/8856		
HGNC:8855	biolink:NamedThing	PEX13			mondo.json		http://identifiers.org/hgnc/8855		
HGNC:8858	biolink:NamedThing	PEX3			mondo.json		http://identifiers.org/hgnc/8858		
HGNC:8857	biolink:NamedThing	PEX16			mondo.json		http://identifiers.org/hgnc/8857		
HGNC:8859	biolink:NamedThing	PEX6			mondo.json		http://identifiers.org/hgnc/8859		
GO:0002827	biolink:NamedThing	positive regulation of T-helper 1 type immune response	Any process that activates or increases the frequency, rate, or extent of a T-helper 1 type immune response.		mondo.json	up regulation of T-helper 1 type immune response|activation of T-helper 1 type immune response|stimulation of T-helper 1 type immune response|upregulation of T-helper 1 type immune response|up-regulation of T-helper 1 type immune response	http://purl.obolibrary.org/obo/GO_0002827		
UBERON:0001994	biolink:AnatomicalEntity	hyaline cartilage tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001994		
GO:0002828	biolink:NamedThing	regulation of type 2 immune response	Any process that modulates the frequency, rate, or extent of a type 2 immune response.		mondo.json	regulation of T-helper 2 type immune response|regulation of Th2 immune response	http://purl.obolibrary.org/obo/GO_0002828		
GO:0002829	biolink:NamedThing	negative regulation of type 2 immune response	Any process that stops, prevents, or reduces the frequency, rate, or extent of a type 2 immune response.		mondo.json	inhibition of type 2 immune response|down-regulation of type 2 immune response|negative regulation of T-helper 2 type immune response|negative regulation of Th2 immune response|downregulation of type 2 immune response|down regulation of type 2 immune response	http://purl.obolibrary.org/obo/GO_0002829		
UBERON:0001996	biolink:AnatomicalEntity	elastic cartilage tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001996		
UBERON:0001995	biolink:AnatomicalEntity	fibrocartilage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001995		
HGNC:8850	biolink:NamedThing	PEX1			mondo.json		http://identifiers.org/hgnc/8850		
GO:0002823	biolink:NamedThing	negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains	Any process that stops, prevents, or reduces the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata.		mondo.json		http://purl.obolibrary.org/obo/GO_0002823		
CHEBI:38323	biolink:ChemicalSubstance	cholinergic drug	Any drug used for its actions on cholinergic systems. Included here are agonists and antagonists, drugs that affect the life cycle of acetylcholine, and drugs that affect the survival of cholinergic neurons.		mondo.json	cholinomimetic|cholinergic agent|cholinergic drugs	http://purl.obolibrary.org/obo/CHEBI_38323		
GO:0002824	biolink:NamedThing	positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains	Any process that activates or increases the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata.		mondo.json		http://purl.obolibrary.org/obo/GO_0002824		
GO:0097159	biolink:NamedThing	organic cyclic compound binding	Binding to an organic cyclic compound, any molecular entity that contains carbon arranged in a cyclic molecular structure.		mondo.json		http://purl.obolibrary.org/obo/GO_0097159		
GO:0002825	biolink:NamedThing	regulation of T-helper 1 type immune response	Any process that modulates the frequency, rate, or extent of a T-helper 1 type immune response.		mondo.json		http://purl.obolibrary.org/obo/GO_0002825		
HGNC:8851	biolink:NamedThing	PEX10			mondo.json		http://identifiers.org/hgnc/8851		
GO:0002826	biolink:NamedThing	negative regulation of T-helper 1 type immune response	Any process that stops, prevents, or reduces the frequency, rate, or extent of a T-helper 1 type immune response.		mondo.json	down-regulation of T-helper 1 type immune response|down regulation of T-helper 1 type immune response|inhibition of T-helper 1 type immune response|downregulation of T-helper 1 type immune response	http://purl.obolibrary.org/obo/GO_0002826		
GO:0002830	biolink:NamedThing	positive regulation of type 2 immune response	Any process that activates or increases the frequency, rate, or extent of a type 2 immune response.		mondo.json	up regulation of type 2 immune response|stimulation of type 2 immune response|up-regulation of type 2 immune response|activation of type 2 immune response|positive regulation of T-helper 2 type immune response|upregulation of type 2 immune response|positive regulation of Th2 immune response	http://purl.obolibrary.org/obo/GO_0002830		
MONDO:0002700	biolink:Disease	obsolete epithelioid trophoblastic tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002700		
UBERON:0001979	biolink:AnatomicalEntity	venule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001979		
GO:0002831	biolink:NamedThing	regulation of response to biotic stimulus	Any process that modulates the frequency, rate, or extent of a response to biotic stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0002831		
MONDO:0002701	biolink:Disease	ovarian mucinous cystadenocarcinoma	An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis.	DOID:3604|NCIT:C4026|EFO:1001963|SCTID:254851009|UMLS:C0279665	mondo.json	ovarian mucinous cystadenocarcinoma|mucinous cystadenocarcinoma of the ovary|mucinous cystadenocarcinoma of ovary|ovary mucinous cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002701	UMLS:C0279665|http://identifiers.org/snomedct/254851009|DOID:3604|NCIT:C4026	
GO:0002832	biolink:NamedThing	negative regulation of response to biotic stimulus	Any process that stops, prevents, or reduces the frequency, rate, or extent of a response to biotic stimulus.		mondo.json	down-regulation of response to biotic stimulus|down regulation of response to biotic stimulus|inhibition of response to biotic stimulus|downregulation of response to biotic stimulus	http://purl.obolibrary.org/obo/GO_0002832		
GO:0002833	biolink:NamedThing	positive regulation of response to biotic stimulus	Any process that activates or increases the frequency, rate, or extent of a response to biotic stimulus.		mondo.json	activation of response to biotic stimulus|stimulation of response to biotic stimulus|upregulation of response to biotic stimulus|up-regulation of response to biotic stimulus|up regulation of response to biotic stimulus	http://purl.obolibrary.org/obo/GO_0002833		
MONDO:0002702	biolink:Disease	ovarian cystadenocarcinoma	An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma.	NCIT:C5228|EFO:1001962|SCTID:314191009|UMLS:C1096638|DOID:3605	mondo.json	cystadenocarcinoma of the ovary|cystadenocarcinoma of ovary|ovarian cystadenocarcinoma|ovary cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002702	http://identifiers.org/snomedct/314191009|UMLS:C1096638|DOID:3605|NCIT:C5228	
UBERON:0001976	biolink:AnatomicalEntity	epithelium of esophagus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001976		
UBERON:0001975	biolink:AnatomicalEntity	serosa of esophagus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001975		
UBERON:0001978	biolink:AnatomicalEntity	parenchyma of pancreas			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001978		
UBERON:0011300	biolink:AnatomicalEntity	gray matter of telencephalon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011300		
CHEBI:38338	biolink:ChemicalSubstance	aminopyrimidine	A member of the class of  pyrimidines that is pyrimidine substituted by at least one amino group and its derivatives.		mondo.json	aminopyrimidines	http://purl.obolibrary.org/obo/CHEBI_38338		
CHEBI:38337	biolink:ChemicalSubstance	pyrimidone	A pyrimidine carrying one or more oxo substituents.		mondo.json	pyrimidones	http://purl.obolibrary.org/obo/CHEBI_38337		
HGNC:8864	biolink:NamedThing	CFP			mondo.json		http://identifiers.org/hgnc/8864		
HGNC:6207	biolink:NamedThing	JUP			mondo.json		http://identifiers.org/hgnc/6207		
UBERON:0001982	biolink:AnatomicalEntity	capillary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001982		
UBERON:0001985	biolink:AnatomicalEntity	corneal endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001985		
HGNC:8860	biolink:NamedThing	PEX7			mondo.json		http://identifiers.org/hgnc/8860		
UBERON:0001981	biolink:AnatomicalEntity	blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001981		
UBERON:0001980	biolink:AnatomicalEntity	arteriole			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001980		
UBERON:0001969	biolink:AnatomicalEntity	blood plasma			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001969		
UBERON:0001968	biolink:AnatomicalEntity	semen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001968		
NCBITaxon:2732506	biolink:OrganismalEntity	Pisoniviricetes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732506		
NCBITaxon:2732507	biolink:OrganismalEntity	Stelpaviricetes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732507		
HGNC:6215	biolink:NamedThing	KARS1			mondo.json		http://identifiers.org/hgnc/6215		
HGNC:8877	biolink:NamedThing	PFKM			mondo.json		http://identifiers.org/hgnc/8877		
HGNC:6217	biolink:NamedThing	KATNB1			mondo.json		http://identifiers.org/hgnc/6217		
HGNC:6218	biolink:NamedThing	KCNA1			mondo.json		http://identifiers.org/hgnc/6218		
UBERON:0001972	biolink:AnatomicalEntity	submucosa of esophagus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001972		
UBERON:0001971	biolink:AnatomicalEntity	gastric juice			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001971		
UBERON:0001974	biolink:AnatomicalEntity	lamina propria of esophagus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001974		
HGNC:6210	biolink:NamedThing	CD82			mondo.json		http://identifiers.org/hgnc/6210		
UBERON:0001970	biolink:AnatomicalEntity	bile			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001970		
HGNC:6211	biolink:NamedThing	ANOS1			mondo.json		http://identifiers.org/hgnc/6211		
UBERON:0001958	biolink:AnatomicalEntity	terminal bronchiole epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001958		
NCBITaxon:2732514	biolink:OrganismalEntity	Revtraviricetes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732514		
UBERON:0001957	biolink:AnatomicalEntity	submucosa of bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001957		
UBERON:0001959	biolink:AnatomicalEntity	white pulp of spleen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001959		
UBERON:0001954	biolink:AnatomicalEntity	Ammon's horn			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001954		
NCBITaxon:2732515	biolink:OrganismalEntity	Blubervirales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732515		
UBERON:0001956	biolink:AnatomicalEntity	cartilage of bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001956		
UBERON:0001955	biolink:AnatomicalEntity	epithelium of respiratory bronchiole			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001955		
HGNC:6224	biolink:NamedThing	KCNA5			mondo.json		http://identifiers.org/hgnc/6224		
HGNC:8889	biolink:NamedThing	PGAM2			mondo.json		http://identifiers.org/hgnc/8889		
CHEBI:38313	biolink:ChemicalSubstance	diazines	Any organic heterocyclic compound containing a benzene ring in which two of the C-H fragments have been replaced by isolobal nitrogens (the diazine parent structure).		mondo.json		http://purl.obolibrary.org/obo/CHEBI_38313		
UBERON:0001961	biolink:AnatomicalEntity	mucosa-associated lymphoid tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001961		
UBERON:0001960	biolink:AnatomicalEntity	periarterial lymphatic sheath			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001960		
UBERON:0001963	biolink:AnatomicalEntity	bronchial-associated lymphoid tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001963		
GO:0002818	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0002818		
HGNC:8881	biolink:NamedThing	PFN1			mondo.json		http://identifiers.org/hgnc/8881		
UBERON:0001962	biolink:AnatomicalEntity	gut-associated lymphoid tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001962		
GO:0002819	biolink:NamedThing	regulation of adaptive immune response	Any process that modulates the frequency, rate, or extent of an adaptive immune response.		mondo.json		http://purl.obolibrary.org/obo/GO_0002819		
HGNC:6220	biolink:NamedThing	KCNA2			mondo.json		http://identifiers.org/hgnc/6220		
HGNC:8885	biolink:NamedThing	PGA3			mondo.json		http://identifiers.org/hgnc/8885		
ENVO:01001646	biolink:NamedThing	amorphous solid	A solid material which does not have a regularly organised internal structure.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001646		
ENVO:01001645	biolink:NamedThing	gaseous part of an atmosphere	That part of an atmosphere which is composed of gaseous material.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001645		
GO:1903509	biolink:NamedThing	liposaccharide metabolic process	The chemical reactions and pathways involving liposaccharide.		mondo.json	liposaccharide metabolism	http://purl.obolibrary.org/obo/GO_1903509		
GO:1903508	biolink:NamedThing	positive regulation of nucleic acid-templated transcription	Any process that activates or increases the frequency, rate or extent of nucleic acid-templated transcription.		mondo.json	up regulation of nucleic acid-templated transcription|up-regulation of nucleic acid-templated transcription|activation of nucleic acid-templated transcription|upregulation of nucleic acid-templated transcription	http://purl.obolibrary.org/obo/GO_1903508		
GO:1903507	biolink:NamedThing	negative regulation of nucleic acid-templated transcription	Any process that stops, prevents or reduces the frequency, rate or extent of nucleic acid-templated transcription.		mondo.json	downregulation of nucleic acid-templated transcription|down regulation of nucleic acid-templated transcription|inhibition of nucleic acid-templated transcription|down-regulation of nucleic acid-templated transcription	http://purl.obolibrary.org/obo/GO_1903507		
GO:1903506	biolink:NamedThing	regulation of nucleic acid-templated transcription	Any process that modulates the frequency, rate or extent of nucleic acid-templated transcription.		mondo.json		http://purl.obolibrary.org/obo/GO_1903506		
MONDO:0036192	biolink:Disease	EN1-related dorsoventral syndrome		Orphanet:611223	mondo.json	ENDOVES|ENDOVE syndrome	http://purl.obolibrary.org/obo/MONDO_0036192	Orphanet:611223	ordo_disorder
CL:0011027	biolink:Cell	skeletal muscle fibroblast	Any fibroblast that is part of skeletal muscle tissue.		mondo.json	skeleton muscle fibroblast	http://purl.obolibrary.org/obo/CL_0011027		
CL:0011026	biolink:Cell	progenitor cell	A precursor cell that has a tendency to differentiate into a specific type of cell. They are descendants of stem cells, only they are more constrained in their differentiation potential or capacity for self-renewal, and are often more limited in both senses.		mondo.json		http://purl.obolibrary.org/obo/CL_0011026		
CL:0011022	biolink:Cell	fibroblast of skin of back	A fibroblast that is part of skin of back.		mondo.json		http://purl.obolibrary.org/obo/CL_0011022		
CHEBI:63299	biolink:ChemicalSubstance	carbohydrate derivative	Any organooxygen compound derived from a carbohydrate by replacement of one or more hydroxy group(s) by an amino group, a thiol group or similar heteroatomic groups. The term also includes derivatives of these compounds.		mondo.json	derivatized carbohydrates|derivatized carbohydrate|carbohydrate derivatives|derivatised carbohydrates|derivatised carbohydrate	http://purl.obolibrary.org/obo/CHEBI_63299		
GO:0048103	biolink:NamedThing	somatic stem cell division	The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line.		mondo.json	somatic stem cell renewal	http://purl.obolibrary.org/obo/GO_0048103		
CL:0011021	biolink:Cell	fibroblast of upper back skin	A fibroblast that is part of upper back skin.		mondo.json		http://purl.obolibrary.org/obo/CL_0011021		
MONDO:0036193	biolink:Disease	parkinsonism with polyneuropathy		Orphanet:611237	mondo.json		http://purl.obolibrary.org/obo/MONDO_0036193	Orphanet:611237	ordo_disorder
NCBITaxon:1264872	biolink:OrganismalEntity	Basidiobolales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1264872		
MONDO:0024193	biolink:Disease	portal hypertension, noncirrhotic		OMIMPS:617068	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024193	https://omim.org/phenotypicSeries/PS617068	
CL:0011016	biolink:Cell	flagellated sperm cell	A motile sperm cell that contains a slender threadlike microscopic appendage that enables motion.		mondo.json		http://purl.obolibrary.org/obo/CL_0011016		
CL:0011013	biolink:Cell	motile sperm cell	A sperm cell that is cabaple of motion (motility).		mondo.json		http://purl.obolibrary.org/obo/CL_0011013		
ENVO:01001639	biolink:NamedThing	formation of a solid aerosol from liquid material in an atmosphere	A process during which microscopic solid particulates are formed from liquid materials in an atmosphere.		mondo.json	formation of solid particles from liquid material in an atmosphere|formation of a solid aerosol in the atmosphere|formation of a solid aerosol in an atmosphere|atmospheric formation of a solid aerosol	http://purl.obolibrary.org/obo/ENVO_01001639		
CL:0011012	biolink:Cell	neural crest cell	A cell of the neural crest. Neural crest cells are multipotent. Premigratory neural crest cells are found at the neural plate boarder, some of which will undergo ectomesynchymal transition and delamination to form migratory neural crest cells.		mondo.json		http://purl.obolibrary.org/obo/CL_0011012		
GO:1903510	biolink:NamedThing	mucopolysaccharide metabolic process	The chemical reactions and pathways involving mucopolysaccharide.		mondo.json	mucopolysaccharide metabolism	http://purl.obolibrary.org/obo/GO_1903510		
CL:0011019	biolink:Cell	mesothelial cell of epicardium	A mesothelial cell that is part of the epicardium.		mondo.json		http://purl.obolibrary.org/obo/CL_0011019		
MONDO:0024189	biolink:Disease	neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset		OMIMPS:616263	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024189	https://omim.org/phenotypicSeries/PS616263	
MONDO:0024182	biolink:Disease	dry beriberi		DOID:0070318	mondo.json	endemic neuritis	http://purl.obolibrary.org/obo/MONDO_0024182	DOID:0070318	
CL:0011005	biolink:Cell	GABAergic interneuron	An interneuron that uses GABA as a vesicular neurotransmitter.  These interneurons are inhibitory		mondo.json	GABAergic inhibitory interneuron	http://purl.obolibrary.org/obo/CL_0011005		
GO:1903524	biolink:NamedThing	positive regulation of blood circulation	Any process that activates or increases the frequency, rate or extent of blood circulation.		mondo.json	upregulation of hemolymph circulation|up-regulation of blood circulation|activation of hemolymph circulation|up regulation of blood circulation|activation of blood circulation|up-regulation of hemolymph circulation|up regulation of hemolymph circulation|upregulation of blood circulation|positive regulation of hemolymph circulation	http://purl.obolibrary.org/obo/GO_1903524		
GO:1903523	biolink:NamedThing	negative regulation of blood circulation	Any process that stops, prevents or reduces the frequency, rate or extent of blood circulation.		mondo.json	down regulation of blood circulation|negative regulation of hemolymph circulation|down-regulation of hemolymph circulation|inhibition of blood circulation|downregulation of blood circulation|down regulation of hemolymph circulation|downregulation of hemolymph circulation|down-regulation of blood circulation|inhibition of hemolymph circulation	http://purl.obolibrary.org/obo/GO_1903523		
MONDO:0024183	biolink:Disease	wet beriberi		DOID:0070317	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024183	DOID:0070317	
HGNC:25382	biolink:NamedThing	TMEM126A			mondo.json		http://identifiers.org/hgnc/25382		
CL:0011001	biolink:Cell	spinal cord motor neuron	A motor neuron that passes from the spinal cord toward or to a muscle and conducts an impulse that causes movement.		mondo.json		http://purl.obolibrary.org/obo/CL_0011001		
GO:1903522	biolink:NamedThing	regulation of blood circulation	Any process that modulates the frequency, rate or extent of blood circulation.		mondo.json	regulation of hemolymph circulation	http://purl.obolibrary.org/obo/GO_1903522		
NCBITaxon:1264859	biolink:OrganismalEntity	Entomophthoromycotina		PMID:27738200|PMID:17572334|PMID:17051209|GC_ID:1	mondo.json	Zygomycota|Entomophthoromycota	http://purl.obolibrary.org/obo/NCBITaxon_1264859		
CL:0011007	biolink:Cell	paraxial cell	A cell in the area of mesoderm in the neurulating embryo that flanks and forms simultaneously with the neural tube. The cells of this region give rise to somites.		mondo.json	paraxial mesoderm cell|presomitic mesoderm cell|somitic mesoderm cell	http://purl.obolibrary.org/obo/CL_0011007		
GO:0051784	biolink:NamedThing	negative regulation of nuclear division	Any process that stops, prevents, or reduces the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information.		mondo.json	inhibition of nuclear division|down-regulation of nuclear division|downregulation of nuclear division|down regulation of nuclear division	http://purl.obolibrary.org/obo/GO_0051784		
GO:0051785	biolink:NamedThing	positive regulation of nuclear division	Any process that activates or increases the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information.		mondo.json	upregulation of nuclear division|stimulation of nuclear division|up regulation of nuclear division|up-regulation of nuclear division|activation of nuclear division	http://purl.obolibrary.org/obo/GO_0051785		
MONDO:0012190	biolink:Disease	nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome		OMIM:609057|UMLS:C1836823|MESH:C563798|Orphanet:300333	mondo.json	epidermolysis bullosa simplex 7, with nephropathy and deafness|nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome|nephropathy with pretibial epidermolysis bullosa and deafness	http://purl.obolibrary.org/obo/MONDO_0012190	https://omim.org/entry/609057|Orphanet:300333|http://identifiers.org/mesh/C563798|UMLS:C1836823	ordo_disease
ENVO:01001652	biolink:NamedThing	atmospheric aerosol	An aerosol that is suspended in an atmosphere.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001652		
ENVO:01001654	biolink:NamedThing	aerosol formation process	A material transformation process during which solid or liquid particles form and are suspended in a mass of air, thus creating an aerosol.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001654		
MONDO:0024171	biolink:Disease	radio-digito-facial dysplasia		GARD:0004629	mondo.json	Van Goethem syndrome	http://purl.obolibrary.org/obo/MONDO_0024171		gard_rare
HGNC:25396	biolink:NamedThing	FREM2			mondo.json		http://identifiers.org/hgnc/25396		
GO:1903532	biolink:NamedThing	positive regulation of secretion by cell	Any process that activates or increases the frequency, rate or extent of secretion by cell.		mondo.json	positive regulation of cellular secretion|up regulation of secretion by cell|up regulation of cellular secretion|activation of secretion by cell|up-regulation of cellular secretion|activation of cellular secretion|upregulation of secretion by cell|upregulation of cellular secretion|up-regulation of secretion by cell	http://purl.obolibrary.org/obo/GO_1903532		
GO:0048137	biolink:NamedThing	spermatocyte division	The meiotic divisions undergone by the primary and secondary spermatocytes to produce haploid spermatids.		mondo.json	spermatocyte cell division	http://purl.obolibrary.org/obo/GO_0048137		
GO:1903531	biolink:NamedThing	negative regulation of secretion by cell	Any process that stops, prevents or reduces the frequency, rate or extent of secretion by cell.		mondo.json	downregulation of cellular secretion|down-regulation of secretion by cell|down regulation of cellular secretion|down regulation of secretion by cell|inhibition of cellular secretion|down-regulation of cellular secretion|negative regulation of cellular secretion|inhibition of secretion by cell|downregulation of secretion by cell	http://purl.obolibrary.org/obo/GO_1903531		
GO:1903530	biolink:NamedThing	regulation of secretion by cell	Any process that modulates the frequency, rate or extent of secretion by cell.		mondo.json	regulation of cellular secretion	http://purl.obolibrary.org/obo/GO_1903530		
MONDO:0012199	biolink:Disease	posterior polymorphous corneal dystrophy 2	Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.	UMLS:C1852795|OMIM:609140|DOID:0110856|MESH:C565176	mondo.json	COL8A2 posterior polymorphous corneal dystrophy|corneal dystrophy, posterior polymorphous, type 2|posterior polymorphous corneal dystrophy type 2|posterior polymorphous corneal dystrophy caused by mutation in COL8A2|PPCD2|corneal dystrophy, POSTERIOR polymorphous, 2|Ppcd2|corneal dystrophy, posterior polymorphous 2	http://purl.obolibrary.org/obo/MONDO_0012199	DOID:0110856|https://omim.org/entry/609140|UMLS:C1852795|http://identifiers.org/mesh/C565176	
CHEBI:51270	biolink:ChemicalSubstance	tetracenes	Compounds containing a tetracene skeleton.		mondo.json	naphthacenes	http://purl.obolibrary.org/obo/CHEBI_51270		
MONDO:0012193	biolink:Disease	autosomal dominant limb-girdle muscular dystrophy type 1G	Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.	SCTID:719990003|MESH:C563794|DOID:0110306|GARD:0012531|Orphanet:55596|OMIM:609115	mondo.json	muscular dystrophy, limb-girdle, autosomal dominant 3|HNRNPDL autosomal dominant limb-girdle muscular dystrophy|LGMD1G|autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL|muscular dystrophy limb-girdle type 1G|limb-girdle muscular dystrophy, type 1G|limb-girdle muscular dystrophy type 1G	http://purl.obolibrary.org/obo/MONDO_0012193	http://identifiers.org/snomedct/719990003|Orphanet:55596|DOID:0110306|https://omim.org/entry/609115|http://identifiers.org/mesh/C563794	ordo_disease
MONDO:0012194	biolink:Disease	aneurysm, intracranial berry, 3		UMLS:C1836757|OMIM:609122|MESH:C563792	mondo.json	ANIB3|aneurysm, intracranial BERRY, 3	http://purl.obolibrary.org/obo/MONDO_0012194	UMLS:C1836757|https://omim.org/entry/609122|http://identifiers.org/mesh/C563792	
MONDO:0012191	biolink:Disease	hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.	DOID:0111474|MESH:C563797|Orphanet:137681|NCIT:C125663|SCTID:764962002|UMLS:C1836797|OMIM:609060	mondo.json	GFM1 combined oxidative phosphorylation deficiency|COXPD1|combined oxidative phosphorylation deficiency type 1|combined oxidative phosphorylation deficiency caused by mutation in GFM1|hepatoencephalopathy due to combined oxidative phosphorylation defect type 1|combined oxidative phosphorylation deficiency 1|Hepatoencephalopathy, early fatal progressive|Hepatoencephalopathy due to COXPD1	http://purl.obolibrary.org/obo/MONDO_0012191	Orphanet:137681|http://identifiers.org/snomedct/764962002|DOID:0111474|https://omim.org/entry/609060|http://identifiers.org/mesh/C563797|UMLS:C1836797|NCIT:C125663	ordo_disease
MONDO:0012192	biolink:Disease	permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.	OMIM:609069|MESH:C563796|UMLS:C1836780|Orphanet:65288	mondo.json	diabetes mellitus, permanent neonatal, with cerebellar agenesis|pancreatic and cerebellar agenesis|paca	http://purl.obolibrary.org/obo/MONDO_0012192	https://omim.org/entry/609069|Orphanet:65288|http://identifiers.org/mesh/C563796|UMLS:C1836780	ordo_malformation_syndrome
MONDO:0012197	biolink:Disease	idiopathic aplastic anemia	Aplastic anemia without a known cause.	ICD10CM:D61.0|ICD10CM:D61.3|SCTID:191256002|OMIM:614743|OMIM:609135|MESH:C538494|NCIT:C61230|OMIM:614742|GARD:0005836|Orphanet:88|UMLS:C0348890	mondo.json	secondary aplastic anemia|aplastic anemia idiopathic|anemia aplastic|idiopathic bone marrow failure|aplastic Anemia, susceptibility to|aplastic anemia|idiopathic aplastic aplasia	http://purl.obolibrary.org/obo/MONDO_0012197	https://omim.org/entry/609135|Orphanet:88|UMLS:C0348890|http://purl.bioontology.org/ontology/ICD10CM/D61.3|http://identifiers.org/mesh/C538494|NCIT:C61230|http://identifiers.org/snomedct/191256002	ordo_disease
GO:0051782	biolink:NamedThing	negative regulation of cell division	Any process that stops, prevents, or reduces the frequency, rate or extent of cell division.		mondo.json	down-regulation of cell division|down regulation of cell division|inhibition of cell division|downregulation of cell division	http://purl.obolibrary.org/obo/GO_0051782		
MONDO:0012198	biolink:Disease	PCWH syndrome	Waardenburg-Shah syndrome, neurologic variant, also referred to as Peripheral demyelinating neuropathy, Central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH), is characterized by the association of the features of WSS (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy.	OMIM:609136|UMLS:CN239463|MESH:C563789|UMLS:C1836727|DOID:0090111|Orphanet:163746	mondo.json	peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease|WS4 plus|peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome|neurologic Waardenburg-Shah syndrome|peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease|Waardenburg-Shah syndrome, neurologic variant|PCWH	http://purl.obolibrary.org/obo/MONDO_0012198	https://omim.org/entry/609136|http://identifiers.org/mesh/C563789|UMLS:C1836727|UMLS:CN239463|DOID:0090111|Orphanet:163746	ordo_disease
UBERON:4300226	biolink:AnatomicalEntity	forelimb bud mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_4300226		
GO:0051783	biolink:NamedThing	regulation of nuclear division	Any process that modulates the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information.		mondo.json		http://purl.obolibrary.org/obo/GO_0051783		
MONDO:0012195	biolink:Disease	arthrogryposis-severe scoliosis syndrome	Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.	UMLS:C1836756|SCTID:715575001|MESH:C563791|Orphanet:65720|OMIM:609128	mondo.json	DA4|arthrogryposis with Severe scoliosis|arthrogryposis, distal, type 4|distal arthrogryposis type IID|distal arthrogryposis type 4|arthrogryposis, distal, type 2D	http://purl.obolibrary.org/obo/MONDO_0012195	http://identifiers.org/mesh/C563791|UMLS:C1836756|Orphanet:65720|http://identifiers.org/snomedct/715575001|https://omim.org/entry/609128	ordo_malformation_syndrome
UBERON:4300227	biolink:AnatomicalEntity	hindlimb bud mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_4300227		
MONDO:0012196	biolink:Disease	autosomal dominant auditory neuropathy 1	Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene.	OMIM:609129|DOID:0060690|MESH:C563790|UMLS:C1836743	mondo.json	autosomal dominant auditory neuropathy type 1|auditory neuropathy caused by mutation in DIAPH3|DIAPH3 auditory neuropathy|auditory neuropathy, nonsyndromic dominant|auditory neuropathy, autosomal dominant, type 1|AUNA1|NSDAN|nonsyndromic dominant auditory neuropathy|auditory neuropathy, autosomal dominant, 1	http://purl.obolibrary.org/obo/MONDO_0012196	DOID:0060690|http://identifiers.org/mesh/C563790|UMLS:C1836743|https://omim.org/entry/609129	
GO:0051781	biolink:NamedThing	positive regulation of cell division	Any process that activates or increases the frequency, rate or extent of cell division.		mondo.json	up regulation of cell division|activation of cell division|stimulation of cell division|upregulation of cell division|up-regulation of cell division	http://purl.obolibrary.org/obo/GO_0051781		
GO:0051797	biolink:NamedThing	regulation of hair follicle development	Any process that modulates the frequency, rate or extent of hair follicle development.		mondo.json		http://purl.obolibrary.org/obo/GO_0051797		
GO:0000122	biolink:NamedThing	negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.		mondo.json	down-regulation of global transcription from RNA polymerase II promoter|negative regulation of transcription from Pol II promoter|downregulation of transcription from RNA polymerase II promoter|inhibition of global transcription from RNA polymerase II promoter|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of global transcription from Pol II promoter|inhibition of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter, global|downregulation of global transcription from RNA polymerase II promoter|down-regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|down regulation of global transcription from RNA polymerase II promoter|down regulation of transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0000122		
GO:0051798	biolink:NamedThing	positive regulation of hair follicle development	Any process that activates or increases the frequency, rate or extent of hair follicle development.		mondo.json	up-regulation of hair follicle development|up regulation of hair follicle development|activation of hair follicle development|stimulation of hair follicle development|upregulation of hair follicle development	http://purl.obolibrary.org/obo/GO_0051798		
CHEBI:51269	biolink:ChemicalSubstance	acenes	Polycyclic aromatic hydrocarbons consisting of fused benzene rings in a rectilinear arrangement and their substitution derivatives.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_51269		
UBERON:8410020	biolink:AnatomicalEntity	venule of appendix			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410020		
GO:0051799	biolink:NamedThing	negative regulation of hair follicle development	Any process that stops, prevents, or reduces the frequency, rate or extent of hair follicle development.		mondo.json	down-regulation of hair follicle development|down regulation of hair follicle development|inhibition of hair follicle development|downregulation of hair follicle development	http://purl.obolibrary.org/obo/GO_0051799		
GO:0002784	biolink:NamedThing	regulation of antimicrobial peptide production	Any process that modulates the frequency, rate, or extent of antimicrobial peptide production.		mondo.json		http://purl.obolibrary.org/obo/GO_0002784		
UBERON:8410021	biolink:AnatomicalEntity	inguinal region skin			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410021		
GO:0002785	biolink:NamedThing	negative regulation of antimicrobial peptide production	Any process that stops, prevents, or reduces the frequency, rate, or extent of antimicrobial peptide production.		mondo.json	down regulation of antimicrobial peptide production|inhibition of antimicrobial peptide production|down-regulation of antimicrobial peptide production|downregulation of antimicrobial peptide production	http://purl.obolibrary.org/obo/GO_0002785		
ENVO:01001609	biolink:NamedThing	cryospheric layer	A layer which is part of a cryosphere.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001609		
HGNC:25360	biolink:NamedThing	DDX59			mondo.json		http://identifiers.org/hgnc/25360		
HGNC:25367	biolink:NamedThing	CCDC8			mondo.json		http://identifiers.org/hgnc/25367		
GO:1903551	biolink:NamedThing	regulation of extracellular exosome assembly	Any process that modulates the frequency, rate or extent of extracellular vesicular exosome assembly.		mondo.json	regulation of extracellular vesicular exosome assembly	http://purl.obolibrary.org/obo/GO_1903551		
HGNC:13387	biolink:NamedThing	NEK8			mondo.json		http://identifiers.org/hgnc/13387		
GO:0099738	biolink:NamedThing	cell cortex region	The complete extent of cell cortex that underlies some some region of the plasma membrane.		mondo.json	perimembrane region	http://purl.obolibrary.org/obo/GO_0099738		
UBERON:8410015	biolink:AnatomicalEntity	arteriole of colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410015		
UBERON:8410016	biolink:AnatomicalEntity	descending sigmoid junction			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410016		
UBERON:8410017	biolink:AnatomicalEntity	left colic vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410017		
UBERON:8410018	biolink:AnatomicalEntity	right colic vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410018		
UBERON:8410019	biolink:AnatomicalEntity	jejuno-ileal junction			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410019		
GO:0002793	biolink:NamedThing	positive regulation of peptide secretion	Any process that activates or increases the frequency, rate, or extent of peptide secretion.		mondo.json	up-regulation of peptide secretion|up regulation of peptide secretion|activation of peptide secretion|stimulation of peptide secretion|upregulation of peptide secretion	http://purl.obolibrary.org/obo/GO_0002793		
GO:0002794	biolink:NamedThing	regulation of antimicrobial peptide secretion	Any process that modulates the frequency, rate, or extent of antimicrobial peptide secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_0002794		
GO:0002795	biolink:NamedThing	negative regulation of antimicrobial peptide secretion	Any process that stops, prevents, or reduces the frequency, rate, or extent of antimicrobial peptide secretion.		mondo.json	down-regulation of antimicrobial peptide secretion|down regulation of antimicrobial peptide secretion|downregulation of antimicrobial peptide secretion|inhibition of antimicrobial peptide secretion	http://purl.obolibrary.org/obo/GO_0002795		
GO:0002796	biolink:NamedThing	positive regulation of antimicrobial peptide secretion	Any process that activates or increases the frequency, rate, or extent of antimicrobial peptide secretion.		mondo.json	up regulation of antimicrobial peptide secretion|activation of antimicrobial peptide secretion|stimulation of antimicrobial peptide secretion|upregulation of antimicrobial peptide secretion|up-regulation of antimicrobial peptide secretion	http://purl.obolibrary.org/obo/GO_0002796		
GO:0002790	biolink:NamedThing	peptide secretion	The controlled release of a peptide from a cell or a tissue.		mondo.json		http://purl.obolibrary.org/obo/GO_0002790		
GO:0002791	biolink:NamedThing	regulation of peptide secretion	Any process that modulates the frequency, rate, or extent of peptide secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_0002791		
GO:0002792	biolink:NamedThing	negative regulation of peptide secretion	Any process that stops, prevents, or reduces the frequency, rate, or extent of peptide secretion.		mondo.json	downregulation of peptide secretion|down-regulation of peptide secretion|down regulation of peptide secretion|inhibition of peptide secretion	http://purl.obolibrary.org/obo/GO_0002792		
GO:1903553	biolink:NamedThing	positive regulation of extracellular exosome assembly	Any process that activates or increases the frequency, rate or extent of extracellular vesicular exosome assembly.		mondo.json	upregulation of extracellular vesicular exosome assembly|up regulation of extracellular vesicular exosome assembly|positive regulation of extracellular vesicular exosome assembly|up-regulation of extracellular vesicular exosome assembly|activation of extracellular vesicular exosome assembly	http://purl.obolibrary.org/obo/GO_1903553		
GO:1903552	biolink:NamedThing	negative regulation of extracellular exosome assembly	Any process that stops, prevents or reduces the frequency, rate or extent of extracellular vesicular exosome assembly.		mondo.json	down regulation of extracellular vesicular exosome assembly|inhibition of extracellular vesicular exosome assembly|negative regulation of extracellular vesicular exosome assembly|down-regulation of extracellular vesicular exosome assembly|downregulation of extracellular vesicular exosome assembly	http://purl.obolibrary.org/obo/GO_1903552		
UBERON:8410009	biolink:AnatomicalEntity	arteriole of anorectum			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410009		
GO:1903561	biolink:NamedThing	extracellular vesicle	Any vesicle that is part of the extracellular region.		mondo.json	microparticle	http://purl.obolibrary.org/obo/GO_1903561		
NCBITaxon:649188	biolink:OrganismalEntity	Lujo mammarenavirus		GC_ID:1	mondo.json	Lujo virus	http://purl.obolibrary.org/obo/NCBITaxon_649188		
CHEBI:38297	biolink:ChemicalSubstance	thiabicycloalkane			mondo.json	thiabicycloalkanes	http://purl.obolibrary.org/obo/CHEBI_38297		
CL:1001052	biolink:Cell	kidney cortex vein cell		KUPO:0001084	mondo.json		http://purl.obolibrary.org/obo/CL_1001052		
UBERON:8410001	biolink:AnatomicalEntity	small intestine venule			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410001		
UBERON:8410002	biolink:AnatomicalEntity	small intestine lymphatic vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410002		
CHEBI:38295	biolink:ChemicalSubstance	azabicycloalkane			mondo.json	azabicycloalkanes	http://purl.obolibrary.org/obo/CHEBI_38295		
HGNC:13398	biolink:NamedThing	NSDHL			mondo.json		http://identifiers.org/hgnc/13398		
UBERON:8410004	biolink:AnatomicalEntity	small intestine arteriole			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410004		
HGNC:13394	biolink:NamedThing	NPHS2			mondo.json		http://identifiers.org/hgnc/13394		
UBERON:8410008	biolink:AnatomicalEntity	venule of anorectum			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410008		
GO:0002764	biolink:NamedThing	immune response-regulating signaling pathway	The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately leading to the activation, perpetuation, or inhibition of an immune response.		mondo.json	immune response-regulating signalling pathway	http://purl.obolibrary.org/obo/GO_0002764		
GO:0002760	biolink:NamedThing	positive regulation of antimicrobial humoral response	Any process that activates or increases the frequency, rate, or extent of an antimicrobial humoral response.		mondo.json	up regulation of antimicrobial humoral response|stimulation of antimicrobial humoral response|up-regulation of antimicrobial humoral response|activation of antimicrobial humoral response|upregulation of antimicrobial humoral response	http://purl.obolibrary.org/obo/GO_0002760		
ENVO:01001620	biolink:NamedThing	mass of ice and snow	A object which is composed primarily of water-based snow and ice.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001620		
GO:0002761	biolink:NamedThing	regulation of myeloid leukocyte differentiation	Any process that modulates the frequency, rate, or extent of myeloid leukocyte differentiation.		mondo.json		http://purl.obolibrary.org/obo/GO_0002761		
GO:0002762	biolink:NamedThing	negative regulation of myeloid leukocyte differentiation	Any process that stops, prevents, or reduces the frequency, rate, or extent of myeloid leukocyte differentiation.		mondo.json	down-regulation of myeloid leukocyte differentiation|down regulation of myeloid leukocyte differentiation|inhibition of myeloid leukocyte differentiation|downregulation of myeloid leukocyte differentiation	http://purl.obolibrary.org/obo/GO_0002762		
GO:0002763	biolink:NamedThing	positive regulation of myeloid leukocyte differentiation	Any process that activates or increases the frequency, rate, or extent of myeloid leukocyte differentiation.		mondo.json	activation of myeloid leukocyte differentiation|stimulation of myeloid leukocyte differentiation|upregulation of myeloid leukocyte differentiation|up-regulation of myeloid leukocyte differentiation|up regulation of myeloid leukocyte differentiation	http://purl.obolibrary.org/obo/GO_0002763		
UBERON:8410000	biolink:AnatomicalEntity	duodeno-jejunal junction			mondo.json		http://purl.obolibrary.org/obo/UBERON_8410000		
CHR:9606-chr12p12.1	biolink:NamedThing	12p12.1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr12p12.1		
GO:1903566	biolink:NamedThing	positive regulation of protein localization to cilium	Any process that activates or increases the frequency, rate or extent of protein localization to cilium.		mondo.json	upregulation of protein localization to cilium|up regulation of protein localization to cilium|up-regulation of protein localization to cilium|activation of protein localization to cilium	http://purl.obolibrary.org/obo/GO_1903566		
GO:1903565	biolink:NamedThing	negative regulation of protein localization to cilium	Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to cilium.		mondo.json	down regulation of protein localization to cilium|inhibition of protein localization to cilium|down-regulation of protein localization to cilium|downregulation of protein localization to cilium	http://purl.obolibrary.org/obo/GO_1903565		
GO:1903564	biolink:NamedThing	regulation of protein localization to cilium	Any process that modulates the frequency, rate or extent of protein localization to cilium.		mondo.json		http://purl.obolibrary.org/obo/GO_1903564		
GO:0002768	biolink:NamedThing	immune response-regulating cell surface receptor signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell capable of activating, perpetuating, or inhibiting an immune response.		mondo.json	immune response-regulating cell surface receptor signalling pathway	http://purl.obolibrary.org/obo/GO_0002768		
GO:0002775	biolink:NamedThing	antimicrobial peptide production	The synthesis or release of an antimicrobial peptide during an immune response, resulting in an increase in intracellular or extracellular levels. Such peptides may have protective properties against bacteria, fungi, viruses, or protozoa.		mondo.json		http://purl.obolibrary.org/obo/GO_0002775		
GO:0002776	biolink:NamedThing	antimicrobial peptide secretion	The regulated release of an antimicrobial peptide from a cell or a tissue. Such peptides may have protective properties against bacteria, fungi, viruses, or protozoa.		mondo.json		http://purl.obolibrary.org/obo/GO_0002776		
NCBITaxon:471472	biolink:OrganismalEntity	Chlamydia trachomatis 434/Bu		GC_ID:11	mondo.json	Chlamydia trachomatis str. 434/Bu|Chlamydia trachomatis strain 434/Bu	http://purl.obolibrary.org/obo/NCBITaxon_471472		
HGNC:25358	biolink:NamedThing	RNF170			mondo.json		http://identifiers.org/hgnc/25358		
ENVO:01001614	biolink:NamedThing	ice-bearing permafrost	Permafrost which contains inclusions of water-based ice.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001614		
GO:1903579	biolink:NamedThing	negative regulation of ATP metabolic process	Any process that stops, prevents or reduces the frequency, rate or extent of ATP metabolic process.		mondo.json	down-regulation of ATP metabolic process|downregulation of ATP metabolism|down regulation of ATP metabolic process|down regulation of ATP metabolism|inhibition of ATP metabolism|inhibition of ATP metabolic process|downregulation of ATP metabolic process|negative regulation of ATP metabolism|down-regulation of ATP metabolism	http://purl.obolibrary.org/obo/GO_1903579		
GO:1903578	biolink:NamedThing	regulation of ATP metabolic process	Any process that modulates the frequency, rate or extent of ATP metabolic process.		mondo.json	regulation of ATP metabolism	http://purl.obolibrary.org/obo/GO_1903578		
HGNC:25356	biolink:NamedThing	SPRTN			mondo.json		http://identifiers.org/hgnc/25356		
ENVO:01001617	biolink:NamedThing	snow accumulation process	A material accumulation process during which the mass of snow on a surface increases.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001617		
HGNC:25355	biolink:NamedThing	SLC30A10			mondo.json		http://identifiers.org/hgnc/25355		
ENVO:01001619	biolink:NamedThing	snow and ice accumulation process	A material accumulation process during which a accumulation of snow and ice forms or increases in mass.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001619		
ENVO:01001618	biolink:NamedThing	ice accumulation process	A material accumulation process during which ice forms in an environmental material or an existing accumulation of ice increases in mass.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001618		
GO:0061133	biolink:NamedThing	endopeptidase activator activity	Binds to and increases the activity of an endopeptidase, any enzyme that hydrolyzes nonterminal peptide bonds in polypeptides.		mondo.json		http://purl.obolibrary.org/obo/GO_0061133		
GO:0061134	biolink:NamedThing	peptidase regulator activity	Binds to and modulates the activity of a peptidase, any enzyme that catalyzes the hydrolysis peptide bonds.		mondo.json		http://purl.obolibrary.org/obo/GO_0061134		
GO:0061135	biolink:NamedThing	endopeptidase regulator activity	Binds to and modulates the activity of a peptidase, any enzyme that hydrolyzes nonterminal peptide bonds in polypeptides.		mondo.json		http://purl.obolibrary.org/obo/GO_0061135		
HGNC:8800	biolink:NamedThing	PDGFB			mondo.json		http://identifiers.org/hgnc/8800		
GO:1903580	biolink:NamedThing	positive regulation of ATP metabolic process	Any process that activates or increases the frequency, rate or extent of ATP metabolic process.		mondo.json	upregulation of ATP metabolic process|up-regulation of ATP metabolism|activation of ATP metabolism|up-regulation of ATP metabolic process|upregulation of ATP metabolism|up regulation of ATP metabolic process|activation of ATP metabolic process|positive regulation of ATP metabolism|up regulation of ATP metabolism	http://purl.obolibrary.org/obo/GO_1903580		
GO:0061138	biolink:NamedThing	morphogenesis of a branching epithelium	The process in which the anatomical structures of a branched epithelium are generated and organized.		mondo.json		http://purl.obolibrary.org/obo/GO_0061138		
HGNC:8803	biolink:NamedThing	PDGFRA			mondo.json		http://identifiers.org/hgnc/8803		
HGNC:8805	biolink:NamedThing	PDGFRL			mondo.json		http://identifiers.org/hgnc/8805		
HGNC:8804	biolink:NamedThing	PDGFRB			mondo.json		http://identifiers.org/hgnc/8804		
MONDO:0036189	biolink:Disease	oculogastrointestinal-neurodevelopmental syndrome		Orphanet:611201	mondo.json	OGIN Syndrome	http://purl.obolibrary.org/obo/MONDO_0036189	Orphanet:611201	ordo_disorder
NCBITaxon:2901879	biolink:OrganismalEntity	Severe acute respiratory syndrome coronavirus		GC_ID:1	mondo.json	SARS virus|SARS-CoV|SARS coronavirus	http://purl.obolibrary.org/obo/NCBITaxon_2901879		
MONDO:0000157	biolink:Disease	obsolete episodic pain syndrome, familial			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000157		
HP:0011495	biolink:PhenotypicFeature	Abnormal corneal epithelium morphology	Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea.	UMLS:C4023326	mondo.json	Abnormality of corneal epithelium	http://purl.obolibrary.org/obo/HP_0011495		
MONDO:0000156	biolink:Disease	trigonocephaly		SCTID:28740008	mondo.json	trigonocephalus|trigonocephaly, isolated|trigonocephalia|trigonocephaly	http://purl.obolibrary.org/obo/MONDO_0000156	http://identifiers.org/snomedct/28740008	
MONDO:0000155	biolink:Disease	triglyceride storage disease	An inherited metabolic disease that is has its basis in the disruption of sequestering of triglyceride.		mondo.json	inborn sequestering of triglyceride disorder|inborn error of sequestering of triglyceride|rare inborn error of sequestering of triglyceride	http://purl.obolibrary.org/obo/MONDO_0000155		
MONDO:0000154	biolink:Disease	obsolete Trichohepatoenteric syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000154		
HGNC:6190	biolink:NamedThing	JAK1			mondo.json		http://identifiers.org/hgnc/6190		
HGNC:6192	biolink:NamedThing	JAK2			mondo.json		http://identifiers.org/hgnc/6192		
MONDO:0000159	biolink:Disease	bone marrow failure syndrome		UMLS:C2931245|OMIMPS:614675|MESH:C536572	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000159	http://identifiers.org/mesh/C536572|UMLS:C2931245|https://omim.org/phenotypicSeries/PS614675	
MONDO:0000158	biolink:Disease	developmental dysplasia of the hip	A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation.	ICD9:755.63|UMLS:C1840555|MESH:D000082602|SCTID:52781008|EFO:1000648|OMIMPS:142700	mondo.json	congenital acetabular dysplasia|congenital dysplasia of the hip|dysplasia of acetabulum|congenital hip dysplasia	http://purl.obolibrary.org/obo/MONDO_0000158	http://identifiers.org/mesh/D000082602|UMLS:C1840555|http://identifiers.org/snomedct/52781008|https://omim.org/phenotypicSeries/PS142700	
HGNC:6193	biolink:NamedThing	JAK3			mondo.json		http://identifiers.org/hgnc/6193		
MONDO:0000153	biolink:Disease	transposition of the great arteries	A congenital cardiac defect in which two heart vessels are reversed (transposed).	MESH:D014188|NCIT:C84742|Orphanet:216675	mondo.json	transposition of great vessels|great vessels transposition|complete transposition|TGV|TGA|transposition of the great vessels	http://purl.obolibrary.org/obo/MONDO_0000153	NCIT:C84742|Orphanet:216675|http://identifiers.org/mesh/D014188	disease_grouping|ordo_group_of_disorders
MONDO:0000152	biolink:Disease	thiamine-responsive dysfunction syndrome		OMIMPS:249270	mondo.json	thiamine-responsive dysfunction syndrome	http://purl.obolibrary.org/obo/MONDO_0000152	https://omim.org/phenotypicSeries/PS249270	
MONDO:0000151	biolink:Disease	symphalangism		SCTID:253975004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000151	http://identifiers.org/snomedct/253975004	
MONDO:0000150	biolink:Disease	obsolete spondylometaphyseal dysplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000150		
MONDO:0026782	biolink:Disease	obsolete chondrodysplasia punctata 2, X-linked dominant			mondo.json		http://purl.obolibrary.org/obo/MONDO_0026782		
MONDO:0012146	biolink:Disease	familial hemophagocytic lymphohistiocytosis 3	Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene.	GARD:0009928|DOID:0110923|OMIM:608898|Orphanet:540|MESH:C537251	mondo.json	familial hemophagocytic lymphohistiocytosis type 3|hemophagocytic lymphohistiocytosis, familial, 3|HPLH3|HLH3|UNC13D genetic hemophagocytic lymphohistiocytosis|FHL3|hemophagocytic lymphohistiocytosis, familial, type 3|Hlh3|Hplh3|genetic hemophagocytic lymphohistiocytosis caused by mutation in UNC13D	http://purl.obolibrary.org/obo/MONDO_0012146	http://identifiers.org/mesh/C537251|DOID:0110923|https://omim.org/entry/608898	gard_rare
MONDO:0012147	biolink:Disease	coronary heart disease, susceptibility to, 5	Any coronary artery disease in which the cause of the disease is a mutation in the KALRN gene.	OMIM:608901	mondo.json	susceptibility to coronary heart disease 5|KALRN coronary artery disease|coronary artery disease caused by mutation in KALRN|coronary artery disease, early-onset|coronary heart disease, susceptibility to, type 5|Chds5|coronary heart disease, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0012147	https://omim.org/entry/608901	predisposition
MONDO:0012144	biolink:Disease	Waardenburg syndrome type 2D	Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene.	UMLS:C1837203|MESH:C563839|DOID:0110952|OMIM:608890	mondo.json	SNAI2 Waardenburg syndrome type 2|Waardenburg syndrome type 2 caused by mutation in SNAI2|Waardenburg syndrome, type 2D|Waardenburg syndrome type IID|WS2D	http://purl.obolibrary.org/obo/MONDO_0012144	UMLS:C1837203|DOID:0110952|http://identifiers.org/mesh/C563839|https://omim.org/entry/608890	
MONDO:0012145	biolink:Disease	macular degeneration, age-related, 3	Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene.	MESH:C563838|OMIM:608895|UMLS:C1837187	mondo.json	HNARMD|macular Degeneration, age-related, type 3|ARMD3|FBLN5 age-related macular degeneration|neuropathy, hereditary, with or without age-related macular degeneration|neuropathy, hereditary, with or without age-related macular Degeneration|macular degeneration, age-related, 3|age-related macular degeneration caused by mutation in FBLN5	http://purl.obolibrary.org/obo/MONDO_0012145	UMLS:C1837187|http://identifiers.org/mesh/C563838|https://omim.org/entry/608895	
HGNC:13345	biolink:NamedThing	LPIN1			mondo.json		http://identifiers.org/hgnc/13345		
CL:1001021	biolink:Cell	kidney loop of Henle descending limb epithelial cell		KUPO:0001053	mondo.json		http://purl.obolibrary.org/obo/CL_1001021		
MONDO:0012148	biolink:Disease	obsolete drug metabolism, poor, CYP2D6-related		EFO:0009161|OMIM:608902|UMLS:C1837154|MESH:C563835	mondo.json	debrisoquine, poor metabolism of|debrisoquine sensitivity|debrisoquine, ultrarapid metabolism of|drug metabolism, ultrarapid, CYP2D6-related|codeine sensitivity|codeine, ultrarapid metabolism of|sparteine, poor metabolism of|nortriptyline, poor metabolism of|drug metabolism, poor, CYP2D6-related	http://purl.obolibrary.org/obo/MONDO_0012148	UMLS:C1837154|http://identifiers.org/mesh/C563835|https://omim.org/entry/608902	
MONDO:0012149	biolink:Disease	attention deficit-hyperactivity disorder, susceptibility to, 1		OMIM:608903	mondo.json	ADHD1|attention deficit-hyperactivity disorder, susceptibility to, type 1|attention deficit-hyperactivity disorder, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0012149	https://omim.org/entry/608903	predisposition
OBO:MAXO_0000864	biolink:NamedThing	therapeutic uses	Uses of chemicals which affect the course of conditions, diseases, syndromes or pathology to benefit the health of an individual.		mondo.json	pharmocological uses|drug uses	http://purl.obolibrary.org/obo/MAXO_0000864		
GO:0036194	biolink:NamedThing	muscle cell projection	A prolongation or process extending from a muscle cell. A muscle cell is a mature contractile cell, commonly known as a myocyte. This cell has as part of its cytoplasm myofibrils organized in various patterns.		mondo.json	muscle arm|myopodia|myocyte projection	http://purl.obolibrary.org/obo/GO_0036194		
MONDO:0012142	biolink:Disease	orofacial cleft 5	Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene.	DOID:0080399|OMIM:608874|UMLS:C1837210|MESH:C563843	mondo.json	cleft lip with or without cleft palate, nonsyndromic, 5|MSX1 orofacial cleft|OFC5|orofacial cleft caused by mutation in MSX1|orofacial cleft 5|orofacial cleft type 5	http://purl.obolibrary.org/obo/MONDO_0012142	DOID:0080399|UMLS:C1837210|http://identifiers.org/mesh/C563843|https://omim.org/entry/608874	
MONDO:0012143	biolink:Disease	hereditary cryohydrocytosis with reduced stomatin		MESH:C563840|Orphanet:168577|OMIM:608885|UMLS:C1837206	mondo.json	cryohydrocytosis, stomatin-deficient, with intellectual disability, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis|ChC type 2|sdCHC|SDCHCN|stomatin-deficient cryohydrocytosis with neurologic defects|stomatin-deficient cryohydrocytosis	http://purl.obolibrary.org/obo/MONDO_0012143	UMLS:C1837206|http://identifiers.org/mesh/C563840|Orphanet:168577|https://omim.org/entry/608885	ordo_disease
MONDO:0012140	biolink:Disease	obsolete pulmonary function		OMIM:608852	mondo.json	lung function, accelerated rate of decline In, smoking-related|Plf|pulmonary function	http://purl.obolibrary.org/obo/MONDO_0012140	https://omim.org/entry/608852	
MONDO:0012141	biolink:Disease	orofacial cleft 6, susceptibility to	Any orofacial cleft in which the cause of the disease is a mutation in the IRF6 gene.	DOID:0080593|OMIM:608864	mondo.json	orofacial cleft 6|orofacial cleft 6, susceptibility to|cleft lip with or without cleft palate, nonsyndromic, 6|orofacial cleft caused by mutation in IRF6|OFC6|IRF6 orofacial cleft|susceptibility to orofacial cleft 6	http://purl.obolibrary.org/obo/MONDO_0012141	DOID:0080593|https://omim.org/entry/608864	predisposition
MONDO:0000168	biolink:Disease	obsolete mental retardation, X-linked, nonsyndromic			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000168		
MONDO:0000167	biolink:Disease	Huntington disease and related disorders	A grouping for Huntington disease and similar diseases.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0000167		
MONDO:0026777	biolink:Disease	VEXAS syndrome	An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death.	Orphanet:596753|OMIM:301054	mondo.json	vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome|VEXAS syndrome, somatic|VEXAS	http://purl.obolibrary.org/obo/MONDO_0026777	https://omim.org/entry/301054|Orphanet:596753	ordo_disease
MONDO:0000166	biolink:Disease	encephalopathy, acute, infection-induced		OMIMPS:610551|UMLS:CN236791	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000166	UMLS:CN236791|https://omim.org/phenotypicSeries/PS610551	
MONDO:0000165	biolink:Disease	obsolete ectodermal dysplasia-syndactyly syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000165		
MONDO:0000169	biolink:Disease	microphthalmia, isolated, with cataract		OMIMPS:156850	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000169	https://omim.org/phenotypicSeries/PS156850	
MONDO:0000160	biolink:Disease	epilepsy, familial adult myoclonic		DOID:0111689|OMIMPS:601068	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000160	DOID:0111689|https://omim.org/phenotypicSeries/PS601068	
MONDO:0000164	biolink:Disease	obsolete corneal dystrophy, Fuchs endothelial			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000164		
MONDO:0000163	biolink:Disease	obsolete breast-ovarian cancer, familial, susceptibility to			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000163		predisposition
MONDO:0000162	biolink:Disease	autoimmune thyroid disease, susceptibility to			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000162		predisposition
MONDO:0000161	biolink:Disease	obsolete adrenal hyperplasia		UMLS:C1621895	mondo.json	obsolete adrenal hyperplasia (disease)	http://purl.obolibrary.org/obo/MONDO_0000161	UMLS:C1621895	
MONDO:0026771	biolink:Disease	developmental and epileptic encephalopathy, 85, with or without midline brain defects		OMIM:301044	mondo.json	developmental and epileptic encephalopathy 85, with or without midline brain defects, X-linked dominant|DEE85, with or without midline brain defects|EIEE85|epileptic encephalopathy, early infantile, 85, with or without midline brain defects	http://purl.obolibrary.org/obo/MONDO_0026771	https://omim.org/entry/301044	
MONDO:0012135	biolink:Disease	restless legs syndrome, susceptibility to, 2		UMLS:C1837285|OMIM:608831|GARD:0009710	mondo.json	restless legs syndrome 2|RLS2|restless legs syndrome, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0012135	UMLS:C1837285|https://omim.org/entry/608831	predisposition
MONDO:0014798	biolink:Disease	brachydactyly type A1D	Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene.	DOID:0110978|OMIM:616849|UMLS:C4225183	mondo.json	BDA1D|brachydactyly type A1 caused by mutation in BMPR1B|brachydactyly, type A1, D|BMPR1B brachydactyly type A1	http://purl.obolibrary.org/obo/MONDO_0014798	UMLS:C4225183|https://omim.org/entry/616849|DOID:0110978	
MONDO:0014797	biolink:Disease	lymphatic malformation 6		EFO:0009153|OMIM:616843|UMLS:C4225184	mondo.json	lymphedema, hereditary, III|lymphedema, hereditary, 3|lymphedema, hereditary, type III|LMPH3|generalized lymphatic dysplasia of Fotiou	http://purl.obolibrary.org/obo/MONDO_0014797	UMLS:C4225184|https://omim.org/entry/616843	
MONDO:0012136	biolink:Disease	carnitine palmitoyl transferase II deficiency, neonatal form	The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.	UMLS:C1833518|OMIM:608836|MESH:C563463|Orphanet:228308	mondo.json	CPT II deficiency, lethal neonatal|Carnitine palmitoyl transferase II deficiency, lethal systemic form|Carnitine Palmitoyltransferase 2 deficiency, antenatal|Cpt2 deficiency, lethal neonatal|Carnitine Palmitoyltransferase 2 deficiency, lethal neonatal|CPTII, neonatal form|CPT 2 deficiency, lethal neonatal|CARNITINE PALMITOYLTRANSFERASE II deficiency, lethal neonatal|Carnitine Palmitoyltransferase 2 deficiency, neonatal|Carnitine palmitoyl transferase deficiency type 2, lethal systemic form|CPT2, lethal systemic form|Carnitine palmitoyl transferase deficiency type 2, neonatal form|CPT2, neonatal form|carnitine palmitoyl transferase II deficiency, neonatal form|CPTII, lethal systemic form	http://purl.obolibrary.org/obo/MONDO_0012136	https://omim.org/entry/608836|UMLS:C1833518|http://identifiers.org/mesh/C563463|Orphanet:228308	ordo_clinical_subtype
MONDO:0014796	biolink:Disease	autosomal recessive early-onset Parkinson disease 23	Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene.	DOID:0060896|OMIM:616840|UMLS:C4225186	mondo.json	young-onset Parkinson disease caused by mutation in VPS13C|autosomal recessive early-onset Parkinson's disease 23|VPS13C young-onset Parkinson disease|Parkinson disease 23, autosomal recessive, early onset|autosomal recessive early-onset Parksinson disease type 23|PARK23|autosomal recessive early-onset Parkinson disease 23|Parkinson disease 23, autosomal recessive early-onset	http://purl.obolibrary.org/obo/MONDO_0014796	UMLS:C4225186|https://omim.org/entry/616840|DOID:0060896	
MONDO:0012133	biolink:Disease	lateral semicircular canal malformation, familial, with external and middle ear abnormalities		MESH:C537879|OMIM:608814|GARD:0010067|UMLS:C1837314	mondo.json	lateral semicircular canal malformation, familial, with external and middle ear abnormalities	http://purl.obolibrary.org/obo/MONDO_0012133	http://identifiers.org/mesh/C537879|UMLS:C1837314|https://omim.org/entry/608814	gard_rare
MONDO:0012134	biolink:Disease	myoclonic epilepsy, juvenile, susceptibility to, 3		OMIM:608816|DOID:0111326|UMLS:C1837308	mondo.json	myoclonic epilepsy, juvenile, susceptibility to, 3|EJM3|epilepsy, juvenile myoclonic 3	http://purl.obolibrary.org/obo/MONDO_0012134	DOID:0111326|UMLS:C1837308|https://omim.org/entry/608816	predisposition
MONDO:0014795	biolink:Disease	exercise intolerance, riboflavin-responsive		UMLS:C4225187|OMIM:616839	mondo.json	exercise intolerance, riboflavin-responsive|RREI	http://purl.obolibrary.org/obo/MONDO_0014795	UMLS:C4225187|https://omim.org/entry/616839	
MONDO:0012139	biolink:Disease	macular dystrophy, retinal, 3		OMIM:608850|UMLS:C3888009	mondo.json	macular dystrophy, retinal, type 3|MCDR3|Mcdr3|macular dystrophy, retinal, 3	http://purl.obolibrary.org/obo/MONDO_0012139	https://omim.org/entry/608850|UMLS:C3888009	
HGNC:13356	biolink:NamedThing	MCOLN1			mondo.json		http://identifiers.org/hgnc/13356		
MONDO:0012137	biolink:Disease	Carney complex - trismus - pseudocamptodactyly syndrome	Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).	OMIM:608837|Orphanet:319340	mondo.json	Carney complex variant|CARNEY complex variant	http://purl.obolibrary.org/obo/MONDO_0012137	https://omim.org/entry/608837|Orphanet:319340	ordo_disease
MONDO:0014799	biolink:Disease	cataract 45	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene.	OMIM:616851|UMLS:C4225182|DOID:0110262	mondo.json	CTRCT45|SIPA1L3 early-onset non-syndromic cataract|early-onset non-syndromic cataract caused by mutation in SIPA1L3|cataract type 45|cataract 45	http://purl.obolibrary.org/obo/MONDO_0014799	UMLS:C4225182|DOID:0110262|https://omim.org/entry/616851	
MONDO:0012138	biolink:Disease	muscular dystrophy-dystroglycanopathy type B6	A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.	MESH:C563844|DOID:0110637|UMLS:C1837229|OMIM:608840|Orphanet:98894|Orphanet:370968	mondo.json	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6|MDC1D|congenital muscular dystrophy large-related|congenital muscular dystrophy type 1D|muscular dystrophy, congenital, type 1D|muscular dystrophy, congenital, large-related|MDDGB6	http://purl.obolibrary.org/obo/MONDO_0012138	https://omim.org/entry/608840|Orphanet:98894|UMLS:C1837229|DOID:0110637|http://identifiers.org/mesh/C563844	
MONDO:0014790	biolink:Disease	TMEM199-CDG		DOID:0070268|OMIM:616829|Orphanet:466703|UMLS:C4225190	mondo.json	congenital disorder of glycosylation, type IIp|congenital disorder of glycosylation type IIp|CDG2P|CDG IIp|CDG syndrome type IIp|congenital disorder of glycosylation type 2p|carbohydrate deficient glycoprotein syndrome type IIp|CDG-IIp	http://purl.obolibrary.org/obo/MONDO_0014790	UMLS:C4225190|Orphanet:466703|https://omim.org/entry/616829|DOID:0070268	ordo_disease
MONDO:0012131	biolink:Disease	metaphyseal undermodeling, spondylar dysplasia, and overgrowth		GARD:0010066|OMIM:608811|Orphanet:498485|UMLS:C1837316|MESH:C537355	mondo.json	metaphyseal undermodeling, spondylar dysplasia, and overgrowth|overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0012131	http://identifiers.org/mesh/C537355|UMLS:C1837316|Orphanet:498485|https://omim.org/entry/608811	gard_rare
MONDO:0014794	biolink:Disease	Meier-Gorlin syndrome 6	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene.	OMIM:616835|UMLS:C4225188|DOID:0080517	mondo.json	MGORS6|GMNN Meier-Gorlin syndrome|Meier-Gorlin syndrome 6|Meier-GORLIN syndrome 6|Meier-Gorlin syndrome type 6|Meier-Gorlin syndrome caused by mutation in GMNN	http://purl.obolibrary.org/obo/MONDO_0014794	UMLS:C4225188|DOID:0080517|https://omim.org/entry/616835	
MONDO:0012132	biolink:Disease	colorectal cancer, susceptibility to, 1	Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene.	OMIM:608812	mondo.json	colorectal cancer caused by mutation in GALNT12|colorectal adenoma and cancer, susceptibility to|colorectal cancer, susceptibility to, on chromosome 9|susceptibility to colorectal cancer 1|colorectal cancer, susceptibility to, 1|colorectal cancer, susceptibility to, type 1|GALNT12 colorectal cancer|CRCS1	http://purl.obolibrary.org/obo/MONDO_0012132	https://omim.org/entry/608812	predisposition
MONDO:0014793	biolink:Disease	microcephaly-congenital cataract-psoriasiform dermatitis syndrome		OMIM:616834|UMLS:C4225189|Orphanet:488168	mondo.json	sterol-C4-methyl oxidase deficiency|MCCPD|Sc4Mol deficiency|microcephaly, congenital cataract, and psoriasiform dermatitis|smo deficiency	http://purl.obolibrary.org/obo/MONDO_0014793	UMLS:C4225189|Orphanet:488168|https://omim.org/entry/616834	ordo_malformation_syndrome
MONDO:0014792	biolink:Disease	Paget disease of bone 6		OMIM:616833|UMLS:C4085250	mondo.json	Paget disease of bone 6; PDB6|Paget disease of bone 6|PDB6|Paget disease of bone type 6	http://purl.obolibrary.org/obo/MONDO_0014792	UMLS:C4085250|https://omim.org/entry/616833	
MONDO:0014791	biolink:Disease	Luscan-Lumish syndrome		OMIM:616831|Orphanet:597738|UMLS:C4085873	mondo.json	LLs|Luscan-Lumish syndrome|Luscan-Lumish syndrome; LLs|SETD2-related overgrowth syndrome	http://purl.obolibrary.org/obo/MONDO_0014791	Orphanet:597738|https://omim.org/entry/616831|UMLS:C4085873	
MONDO:0012130	biolink:Disease	myofibrillar myopathy 2	Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene.	Orphanet:399058|UMLS:C1837317|MESH:C563848|DOID:0080093|OMIM:608810	mondo.json	alpha-B crystallinopathy|myopathy, desmin-related, associated with mutation in the Cryab Gene|MFM2|alpha-B crystallin-related late-onset distal myopathy|myopathy, myofibrillar, alpha-B crystallin-related|myofibrillar myopathy type 2|myopathy, myofibrillar, type 2|myopathy, myofibrillar, with or without cataract and/or cardiomyopathy|myopathy, myofibrillar, 2|late-onset distal crystallinopathy|autosomal dominant distal myopathy caused by mutation in CRYAB|CRYAB autosomal dominant distal myopathy	http://purl.obolibrary.org/obo/MONDO_0012130	Orphanet:399058|UMLS:C1837317|http://identifiers.org/mesh/C563848|https://omim.org/entry/608810|DOID:0080093	ordo_disease
MONDO:0002798	biolink:Disease	childhood central nervous system primitive neuroectodermal neoplasm	A central nervous system embryonal tumor, not otherwise specified that occurs in childhood.	NCIT:C5961|UMLS:C1332957|DOID:3870	mondo.json	childhood CNS PNET|childhood central nervous system PNET|Central nervous system embryonal tumor, NOS|pediatric central nervous system primitive neuroectodermal tumor|pediatric CNS primitive neuroectodermal tumor|childhood central primitive neuroectodermal neoplasm|central nervous system primitive neuroectodermal neoplasm of childhood|pediatric central nervous system primitive neuroectodermal neoplasm|childhood CNS primitive neuroectodermal neoplasm|childhood central nervous system primitive neuroectodermal neoplasm|pediatric central primitive neuroectodermal tumor|pediatric CNS PNET|pediatric central primitive neuroectodermal neoplasm|childhood central nervous system primitive neuroectodermal tumor|childhood CNS primitive neuroectodermal tumor|pediatric CNS primitive neuroectodermal neoplasm|childhood central primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/MONDO_0002798	UMLS:C1332957|DOID:3870|NCIT:C5961	
MONDO:0000135	biolink:Disease	obsolete Kenny-Caffey syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000135		
MONDO:0026765	biolink:Disease	congenital disorder of glycosylation, type IIr		OMIM:301045	mondo.json	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr|CDG IIr|CDG2R|congenital disorder of glycosylation, type IIr, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0026765	https://omim.org/entry/301045	
MONDO:0002799	biolink:Disease	nodular medulloblastoma	A medulloblastoma characterized by nodularity and neuronal differentiation.	UMLS:C1334970|DOID:3873|NCIT:C5407	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002799	DOID:3873	
MONDO:0000134	biolink:Disease	obsolete inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000134		
MONDO:0000133	biolink:Disease	immunodeficiency-centromeric instability-facial anomalies syndrome	The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.	DOID:0090007|MESH:C537362|UMLS:CN201349|GARD:0002945|OMIMPS:242860|SCTID:234633000|Orphanet:2268	mondo.json	ICF syndrome|immunodeficiency-centromeric instability-facial anomalies syndrome|CIID|immunodeficiency-centromeric instability-facial anomalies	http://purl.obolibrary.org/obo/MONDO_0000133	Orphanet:2268|http://identifiers.org/snomedct/234633000|UMLS:CN201349|http://identifiers.org/mesh/C537362|https://omim.org/phenotypicSeries/PS242860|DOID:0090007	ordo_malformation_syndrome
MONDO:0026763	biolink:Disease	holoprosencephaly 13, X-linked		OMIM:301043	mondo.json	HOLOPROSENCEPHALY 13, X-LINKED|holoprosencephaly 13, X-linked, X-linked recessive, X-linked dominant|HPE13	http://purl.obolibrary.org/obo/MONDO_0026763	https://omim.org/entry/301043	
MONDO:0000132	biolink:Disease	obsolete hypocalcemia			mondo.json	obsolete hypocalcemia (disease)	http://purl.obolibrary.org/obo/MONDO_0000132		
HGNC:25302	biolink:NamedThing	COQ9			mondo.json		http://identifiers.org/hgnc/25302		
MONDO:0002794	biolink:Disease	adult medulloblastoma	A medulloblastoma arising from the brain, occurring in adults.	DOID:3864|UMLS:C0278876|UMLS:C1332188|NCIT:C4011	mondo.json	medulloblastoma|medulloblastoma of adults|adult brain medulloblastoma	http://purl.obolibrary.org/obo/MONDO_0002794	UMLS:C1332188|UMLS:C0278876|DOID:3864|NCIT:C4011	
MONDO:0000139	biolink:Disease	obsolete microcephalic primordial dwarfism			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000139		
MONDO:0002795	biolink:Disease	adult central nervous system primitive neuroectodermal neoplasm	A central nervous system embryonal tumor, not otherwise specified that occurs in adults.	UMLS:C1332196|DOID:3865|NCIT:C5411	mondo.json	adult central nervous system primitive neuroectodermal neoplasm|adult central primitive neuroectodermal neoplasm|adult CNS primitive neuroectodermal neoplasm|adult CNS primitive neuroectodermal tumor|central nervous system primitive neuroectodermal neoplasm of adults|adult central primitive neuroectodermal tumour|adult central nervous system primitive neuroectodermal tumor|adult CNS PNET	http://purl.obolibrary.org/obo/MONDO_0002795	UMLS:C1332196|DOID:3865|NCIT:C5411	
MONDO:0000138	biolink:Disease	metaphyseal chondrodysplasia		HP:0005871|SCTID:28681006	mondo.json	metaphyseal chondrodysplasia|metaphyseal chondrodysplasia (disease)	http://purl.obolibrary.org/obo/MONDO_0000138	http://identifiers.org/snomedct/28681006	
MONDO:0002796	biolink:Disease	melanotic medulloblastoma	A rare malignant embryonal neoplasm characterized by the presence of small cells which resemble the cells of classic medulloblastoma and a minor population of melanin-forming neuroepithelial cells. It usually has an unfavorable clinical course.	ONCOTREE:MMBL|DOID:3868|UMLS:C1275668|NCIT:C9497	mondo.json	medulloblastoma, melanotic (morphologic abnormality)|melanotic medulloblastoma|medulloblastoma, melanotic|melanocytic medulloblastoma|MMBL|medulloblastoma with melanotic differentiation	http://purl.obolibrary.org/obo/MONDO_0002796	NCIT:C9497|DOID:3868|UMLS:C1275668	
MONDO:0026767	biolink:Disease	immunodeficiency 74, COVID-19-related, X-linked		OMIM:301051	mondo.json	respiratory insufficiency due to SARS-CoV-2 viral infection|IMD74|IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED|immunodeficiency 74, COVID19-related, X-linked, X-linked recessive|TLR7 deficiency	http://purl.obolibrary.org/obo/MONDO_0026767	https://omim.org/entry/301051	
MONDO:0000137	biolink:Disease	leukoencephalopathy, megalencephalic		OMIMPS:604004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000137	https://omim.org/phenotypicSeries/PS604004	
MONDO:0026768	biolink:Disease	obsolete warfarin sensitivity, X-linked		OMIM:301052	mondo.json	Coumarin Sensitivity, X-Linked|WARFARIN SENSITIVITY, X-LINKED|Warfarin sensitivity	http://purl.obolibrary.org/obo/MONDO_0026768	https://omim.org/entry/301052	
MONDO:0002797	biolink:Disease	childhood medulloblastoma	A medulloblastoma occurring in children.	DOID:3869|NCIT:C3997|GARD:0009350|UMLS:C0278510	mondo.json	pediatric medulloblastoma|childhood medulloblastoma|medulloblastoma of childhood|medulloblastoma|medulloblastoma, childhood	http://purl.obolibrary.org/obo/MONDO_0002797	NCIT:C3997|UMLS:C0278510|DOID:3869	gard_rare
MONDO:0000136	biolink:Disease	keratosis follicularis spinulosa decalvans	Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.	GARD:0006829|SCTID:238626006|ICD9:757.39|Orphanet:2340	mondo.json	keratosis pilaris decalvans	http://purl.obolibrary.org/obo/MONDO_0000136	Orphanet:2340|http://identifiers.org/snomedct/238626006	ordo_disease
MONDO:0002790	biolink:Disease	seminal vesicle tumor	A benign or malignant neoplasm that affects the seminal vesicle. Representative examples include cystadenoma and adenocarcinoma.	DOID:3855|SCTID:236740006|ICD9:239.5|NCIT:C39908|UMLS:C0341767	mondo.json	seminal vesicle tumor|seminal vesicle neoplasm (disease)|tumor of seminal vesicle|seminal vesicle neoplasm|neoplasm of seminal vesicle	http://purl.obolibrary.org/obo/MONDO_0002790	http://identifiers.org/snomedct/236740006|DOID:3855|UMLS:C0341767|NCIT:C39908	
HGNC:27960	biolink:NamedThing	SLC6A19			mondo.json		http://identifiers.org/hgnc/27960		
MONDO:0002791	biolink:Disease	large cell medulloblastoma	A medulloblastoma composed of large cells with prominent nucleoli and a larger amount of cytoplasm in contrast with the cells of the classic medulloblastoma.	ICDO:9474/3|EFO:0008508|NCIT:C6904|UMLS:C1266180|DOID:3857	mondo.json	large cell medulloblastoma (morphologic abnormality)|large cell medulloblastoma	http://purl.obolibrary.org/obo/MONDO_0002791	UMLS:C1266180|DOID:3857|NCIT:C6904	
MONDO:0012119	biolink:Disease	asperger syndrome, susceptibility to, 3		OMIM:608781|UMLS:C1837434	mondo.json	ASPG3|Asperger syndrome susceptibility 3|ASPERGER syndrome, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0012119	https://omim.org/entry/608781|UMLS:C1837434	predisposition
MONDO:0002792	biolink:Disease	cerebellar vermis medulloblastoma	A medulloblastoma arising from the vermis of the cerebellum.	DOID:3860|UMLS:C1332903|NCIT:C5401	mondo.json	cerebellar vermis medulloblastoma|medulloblastoma of the cerebellar vermis|vermis medulloblastoma|medulloblastoma of cerebellar vermis	http://purl.obolibrary.org/obo/MONDO_0002792	UMLS:C1332903|DOID:3860|NCIT:C5401	
HGNC:27962	biolink:NamedThing	STING1			mondo.json		http://identifiers.org/hgnc/27962		
MONDO:0002793	biolink:Disease	obsolete medullomyoblastoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002793		
MONDO:0000131	biolink:Disease	obsolete hyperpigmentation, familial progressive			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000131		
MONDO:0000130	biolink:Disease	obsolete hypercarotenemia and vitamin a deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000130		
MONDO:0026762	biolink:Disease	Wieacker-Wolff syndrome, female-restricted		OMIM:301041	mondo.json	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED|WRWFFR|Wieacker-Wolff syndrome, female-restricted, X-linked dominant	http://purl.obolibrary.org/obo/MONDO_0026762	https://omim.org/entry/301041	
MONDO:0012124	biolink:Disease	sudden infant death-dysgenesis of the testes syndrome	Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.	UMLS:C1837371|OMIM:608800|GARD:0012382|Orphanet:168593|MESH:C563856	mondo.json	sudden infant death - dysgenesis of the testes|sudden infant death with dysgenesis of the testes syndrome|SIDDT	http://purl.obolibrary.org/obo/MONDO_0012124	https://omim.org/entry/608800|UMLS:C1837371|http://identifiers.org/mesh/C563856|Orphanet:168593	ordo_malformation_syndrome
MONDO:0014787	biolink:Disease	severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome		UMLS:C4225193|OMIM:616819|Orphanet:466688	mondo.json	Birk-Flusser syndrome|corpus callosum, agenesis of, with Facial anomalies and cerebellar ataxia|CCAFCA|corpus callosum, agenesis OF, with FACIAL anomalies and cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0014787	UMLS:C4225193|Orphanet:466688|https://omim.org/entry/616819	ordo_malformation_syndrome
MONDO:0012125	biolink:Disease	hypomyelinating leukodystrophy 2	Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene.	OMIM:608804|MESH:C563855|DOID:0060787|UMLS:C1837355|Orphanet:280282	mondo.json	Pelizaeus-Merzbacher-like disease 1|leukodystrophy, hypomyelinating, type 2|PMLD1|hypomyelinating leukodystrophy type 2|HLD2|leukodystrophy caused by mutation in GJC2|Pelizaeus-Merzbacher-like disease due to GJC2 mutation|leukodystrophy, hypomyelinating, 2|GJC2 leukodystrophy|Pelizaeus-Merzbacher-like disease, 1	http://purl.obolibrary.org/obo/MONDO_0012125	https://omim.org/entry/608804|UMLS:C1837355|Orphanet:280282|http://identifiers.org/mesh/C563855|DOID:0060787	ordo_clinical_subtype
MONDO:0014786	biolink:Disease	IgA nephropathy, susceptibility to, 3	Any IgA glomerulonephritis in which the cause of the disease is a mutation in the SPRY2 gene.	OMIM:616818	mondo.json	IgA nephropathy, susceptibility to, 3; IGAN3|IgA nephropathy, susceptibility to, 3|IgA glomerulonephritis caused by mutation in SPRY2|susceptibility to IgA nephropathy 3|IGAN3|SPRY2 IgA glomerulonephritis|IgA nephropathy, susceptibility to, type 3	http://purl.obolibrary.org/obo/MONDO_0014786	https://omim.org/entry/616818	predisposition
CHEBI:16914	biolink:ChemicalSubstance	salicylic acid	A monohydroxybenzoic acid that is benzoic acid with a hydroxy group at the ortho position. It is obtained from the bark of the white willow and wintergreen leaves.		mondo.json	2-hydroxybenzoic acid|Salicylic acid|2-HYDROXYBENZOIC ACID|o-hydroxybenzoic acid|o-Hydroxybenzoic acid|2-carboxyphenol|o-carboxyphenol	http://purl.obolibrary.org/obo/CHEBI_16914		
MONDO:0014785	biolink:Disease	microcephaly, short stature, and impaired glucose metabolism 2	Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene.	OMIM:616817|UMLS:C4225195	mondo.json	MSSGM2|PPP1R15B microcephaly, short stature, and impaired glucose metabolism|microcephaly, short stature, and impaired glucose metabolism type 2|microcephaly, short stature, and impaired glucose metabolism caused by mutation in PPP1R15B|microcephaly, short stature, and impaired glucose metabolism 2|microcephaly, short stature, and impaired glucose metabolism 2; MSSGM2	http://purl.obolibrary.org/obo/MONDO_0014785	UMLS:C4225195|https://omim.org/entry/616817	
MONDO:0012122	biolink:Disease	moyamoya disease 3		UMLS:C1837418|MESH:C536993|OMIM:608796	mondo.json	MYMY3|Moyamoya disease 3	http://purl.obolibrary.org/obo/MONDO_0012122	https://omim.org/entry/608796|http://identifiers.org/mesh/C536993|UMLS:C1837418	
MONDO:0012123	biolink:Disease	congenital disorder of glycosylation type 1E	The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.	DOID:0080557|NCIT:C126871|MESH:C535743|SCTID:725078006|OMIM:608799|GARD:0009831|Orphanet:79322	mondo.json	DPM1 congenital disorder of glycosylation|CDG1E|congenital disorder of glycosylation type 1E|DPM1-CDG (CDG-Ie)|CDG Ie|CDG syndrome type Ie|congenital disorder of glycosylation type Ie|CDGIe|congenital disorder of glycosylation caused by mutation in DPM1|CDG 1E|carbohydrate-deficient glycoprotein syndrome type 1E|congenital disorder of glycosylation, type Ie|Dol-P-mannosyltransferase deficiency|congenital disorder of glycosylation type 1e|DPM1-CDG|carbohydrate deficient glycoprotein syndrome type Ie|CDG-Ie	http://purl.obolibrary.org/obo/MONDO_0012123	https://omim.org/entry/608799|http://identifiers.org/snomedct/725078006|DOID:0080557|Orphanet:79322|http://identifiers.org/mesh/C535743|NCIT:C126871	ordo_disease
MONDO:0014784	biolink:Disease	severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.	Orphanet:467176|UMLS:C4225196|OMIM:616816	mondo.json	hypotonia, infantile, with psychomotor retardation|IHPMR	http://purl.obolibrary.org/obo/MONDO_0014784	UMLS:C4225196|https://omim.org/entry/616816|Orphanet:467176	ordo_disease
MONDO:0012128	biolink:Disease	transposition of the great arteries, dextro-looped	Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene.	GARD:0007795|OMIM:608808|MESH:C563853|DOID:0060771|UMLS:C1837341	mondo.json	D-TGA|transposition of the great arteries, dextro-looped type 1|dextro-looped transposition of the great arteries type 1|MED13L dextro-looped transposition of the great arteries|DTGA1|DTGA|dextro-looped transposition of the great arteries caused by mutation in MED13L|transposition of the great arteries, dextro-looped 1|dextro-looped transposition of the great arteries 1	http://purl.obolibrary.org/obo/MONDO_0012128	https://omim.org/entry/608808|UMLS:C1837341|http://identifiers.org/mesh/C563853	
CL:1001045	biolink:Cell	kidney cortex artery cell		KUPO:0001077	mondo.json		http://purl.obolibrary.org/obo/CL_1001045		
MONDO:0012129	biolink:Disease	leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema		OMIM:608809|UMLS:C1837329|MESH:C563852|GARD:0010065	mondo.json	LACH|leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema	http://purl.obolibrary.org/obo/MONDO_0012129	https://omim.org/entry/608809|UMLS:C1837329|http://identifiers.org/mesh/C563852	gard_rare
MONDO:0012126	biolink:Disease	familial avascular necrosis of femoral head	Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.	OMIMPS:608805|UMLS:CN206226|NCIT:C35480|SCTID:715657008|GARD:0010914|MESH:D005271|Orphanet:86820	mondo.json	aseptic Necrosis of head of femur|ANFH|familial osteonecrosis of the femoral head|ischemic Necrosis of femoral head|femoral head, avascular Necrosis of|avascular Necrosis of femoral head, primary, 1|avascular NECROSIS of femoral head, primary, 1|femoral head, aseptic Necrosis of|aseptic Necrosis of femoral head|osteonecrosis of femoral head|avascular NECROSIS of femoral head, primary|ANFH1|familial avascular necrosis of the femoral head|primary avascular necrosis of the femoral head	http://purl.obolibrary.org/obo/MONDO_0012126	https://omim.org/phenotypicSeries/PS608805|NCIT:C35480|Orphanet:86820|UMLS:CN206226|http://identifiers.org/mesh/D005271|http://identifiers.org/snomedct/715657008	gard_rare|ordo_disease|prototype_pattern
MONDO:0014789	biolink:Disease	CCDC115-CDG		OMIM:616828|DOID:0070267|Orphanet:468684	mondo.json	congenital disorder of glycosylation type IIo|CDG syndrome type IIo|congenital disorder of glycosylation type 2o|CDG2O|congenital disorder of glycosylation, type IIo|carbohydrate deficient glycoprotein syndrome type IIo|CDG-IIo|CDG IIo	http://purl.obolibrary.org/obo/MONDO_0014789	DOID:0070267|Orphanet:468684|https://omim.org/entry/616828	ordo_disease
MONDO:0012127	biolink:Disease	autosomal recessive limb-girdle muscular dystrophy type 2J	Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.	MESH:C563854|DOID:0110283|GARD:0012534|UMLS:C1837342|Orphanet:140922|OMIM:608807	mondo.json	TTN autosomal recessive limb-girdle muscular dystrophy|LGMD2J|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN|muscular dystrophy, limb-girdle, type 2J|muscular dystrophy, limb-girdle, autosomal recessive 10|limb-girdle muscular dystrophy type 2J	http://purl.obolibrary.org/obo/MONDO_0012127	https://omim.org/entry/608807|Orphanet:140922|DOID:0110283|UMLS:C1837342|http://identifiers.org/mesh/C563854	ordo_disease
MONDO:0014788	biolink:Disease	autosomal recessive limb-girdle muscular dystrophy type 2W	Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.	UMLS:C4225192|OMIM:616827|Orphanet:466801|DOID:0110288	mondo.json	muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue|muscular dystrophy, limb-girdle, type 2W|LIMS2 autosomal recessive limb-girdle muscular dystrophy|LGMD2W|autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2|muscular dystrophy, limb-girdle, type 2w	http://purl.obolibrary.org/obo/MONDO_0014788	Orphanet:466801|UMLS:C4225192|DOID:0110288|https://omim.org/entry/616827	ordo_disease
GO:0120111	biolink:NamedThing	neuron projection cytoplasm	All of the contents of a plasma membrane bounded neuron projection, excluding the plasma membrane surrounding the projection.		mondo.json		http://purl.obolibrary.org/obo/GO_0120111		
HGNC:15984	biolink:NamedThing	APTX			mondo.json		http://identifiers.org/hgnc/15984		
MONDO:0000129	biolink:Disease	glutaric aciduria		SCTID:28987007|HP:0003150|HP:0003530|ICD9:270.8|UMLS:C0268594	mondo.json	glutaric aciduria (disease)|glutaric acidemia|glutaric aciduria	http://purl.obolibrary.org/obo/MONDO_0000129	UMLS:C0268594|http://identifiers.org/snomedct/28987007	
MONDO:0012120	biolink:Disease	pyruvate dehydrogenase phosphatase deficiency	Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.	UMLS:C1837429|Orphanet:79246|MESH:C536258|GARD:0009888|OMIM:608782	mondo.json	pyruvate dehydrogenase phosphatase deficiency|PDHPD|lactic acidemia with pyruvate dehydrogenase phosphatase deficiency|PDH phosphatase deficiency	http://purl.obolibrary.org/obo/MONDO_0012120	http://identifiers.org/mesh/C536258|Orphanet:79246|UMLS:C1837429|https://omim.org/entry/608782	gard_rare|ordo_clinical_subtype
MONDO:0014783	biolink:Disease	obsolete preimplantation embryonic lethality 1	OBSOLETE. Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the TLE6 gene.	OMIM:616814|UMLS:C4225197	mondo.json	preimplantation embryonic lethality caused by mutation in TLE6|PREMBL1|preimplantation embryonic lethality 1|Prembl|preimplantation embryonic lethality type 1|preimplantation embryonic lethality|TLE6 preimplantation embryonic lethality|preimplantation embryonic lethality 1; PREMBL1	http://purl.obolibrary.org/obo/MONDO_0014783	UMLS:C4225197|https://omim.org/entry/616814	
MONDO:0014782	biolink:Disease	autosomal recessive limb-girdle muscular dystrophy type 2X	Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.	DOID:0110290|Orphanet:476084|UMLS:C4225199|OMIM:616812	mondo.json	BVES autosomal recessive limb-girdle muscular dystrophy|LGMD2X|muscular dystrophy, limb-girdle, type 2X|muscular dystrophy, limb-girdle, type 2x|autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome|muscular dystrophy, limb-girdle, autosomal recessive 25|autosomal recessive limb-girdle muscular dystrophy caused by mutation in BVES	http://purl.obolibrary.org/obo/MONDO_0014782	UMLS:C4225199|Orphanet:476084|DOID:0110290|https://omim.org/entry/616812	ordo_disease
MONDO:0012121	biolink:Disease	otosclerosis 5		OMIM:608787|MESH:C563858|UMLS:C1837422	mondo.json	otosclerosis 5|OTSC5	http://purl.obolibrary.org/obo/MONDO_0012121	UMLS:C1837422|http://identifiers.org/mesh/C563858|https://omim.org/entry/608787	
MONDO:0014781	biolink:Disease	combined oxidative phosphorylation deficiency 29	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene.	OMIM:616811|UMLS:C4225200|DOID:0111501	mondo.json	combined oxidative phosphorylation deficiency 29; COXPD29|TXN2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 29|combined oxidative phosphorylation deficiency caused by mutation in TXN2|combined oxidative phosphorylation deficiency type 29|COXPD29	http://purl.obolibrary.org/obo/MONDO_0014781	UMLS:C4225200|DOID:0111501|https://omim.org/entry/616811	
MONDO:0014780	biolink:Disease	hyperphosphatasia with intellectual disability syndrome 6	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGY gene.	UMLS:C4225201|OMIM:616809	mondo.json	hyperphosphatasia with mental retardation syndrome type 6|glycosylphosphatidylinositol biosynthesis defect 12|hyperphosphatasia with mental retardation syndrome 6|hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGY|hyperphosphatasia with intellectual disability syndrome type 6|HPMRS6|hyperphosphatasia with intellectual disability syndrome 6; HPMRS6|PIGY hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia with intellectual disability syndrome 6	http://purl.obolibrary.org/obo/MONDO_0014780	UMLS:C4225201|https://omim.org/entry/616809	
HP:0011461	biolink:PhenotypicFeature	Fetal onset	Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks).	UMLS:C4023347	mondo.json	Foetal onset	http://purl.obolibrary.org/obo/HP_0011461		
MONDO:0000146	biolink:Disease	obsolete progeroid syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000146		
MONDO:0026754	biolink:Disease	obsolete histidinuria-renal tubular defect syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0026754		
MONDO:0000145	biolink:Disease	obsolete premature aging syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000145		
HP:0011463	biolink:PhenotypicFeature	Childhood onset	Onset of disease at the age of between 1 and 5 years.	UMLS:C1837352	mondo.json	Symptoms begin in childhood	http://purl.obolibrary.org/obo/HP_0011463		
MONDO:0000144	biolink:Disease	pregnancy loss, recurrent, susceptibility			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000144		predisposition
MONDO:0000143	biolink:Disease	obsolete multiple mitochondrial dysfunctions syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000143		
GO:0051703	biolink:NamedThing	biological process involved in intraspecies interaction between organisms	Any process in which an organism has an effect on an organism of the same species.		mondo.json	intraspecies interaction between organisms|intraspecies interaction with other organisms	http://purl.obolibrary.org/obo/GO_0051703		
MONDO:0000149	biolink:Disease	obsolete retinopathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000149		
MONDO:0000148	biolink:Disease	pulmonary fibrosis and/or bone marrow failure, telomere-related		UMLS:CN262497|OMIMPS:614742	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000148	https://omim.org/phenotypicSeries/PS614742|UMLS:CN262497	
MONDO:0000147	biolink:Disease	polyposis		NCIT:C4089|UMLS:C0334108	mondo.json	polyposis|multiple polyps	http://purl.obolibrary.org/obo/MONDO_0000147	NCIT:C4089|UMLS:C0334108	
GO:0051707	biolink:NamedThing	response to other organism	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from another living organism.		mondo.json		http://purl.obolibrary.org/obo/GO_0051707		
MONDO:0012108	biolink:Disease	spondyloepimetaphyseal dysplasia, matrilin-3 type	A spondyloepimetaphyseal dysplasia characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.	UMLS:C1837481|MESH:C563869|GARD:0010611|OMIM:608728|Orphanet:156728|SCTID:719166003	mondo.json	spondyloepimetaphyseal dysplasia matrilin-3 related|SEMD, MATN3-related|spondyloepimetaphyseal dysplasia, matrilin-3 related|spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type|spondyloepimetaphyseal dysplasia matrilin-3 type|SEMD, matrilin-3 type|SEMD MATN3-related	http://purl.obolibrary.org/obo/MONDO_0012108	UMLS:C1837481|http://identifiers.org/mesh/C563869|Orphanet:156728|https://omim.org/entry/608728|http://identifiers.org/snomedct/719166003	ordo_disease
GO:0051704	biolink:NamedThing	obsolete multi-organism process	OBSOLETE. A biological process which involves another organism of the same or different species.		mondo.json	physiological interaction with other organism|physiological interaction between organisms|interaction between organisms	http://purl.obolibrary.org/obo/GO_0051704		
GO:0051705	biolink:NamedThing	obsolete multi-organism behavior	OBSOLETE. Any process in which an organism has a behavioral effect on another organism of the same or different species.		mondo.json	behavioral signalling|behavioural interaction with other organism|behavioural interaction between organisms|behavioral signaling|behavioral interaction with other organism|behavioral interaction between organisms	http://purl.obolibrary.org/obo/GO_0051705		
MONDO:0012109	biolink:Disease	hypertension, essential, susceptibility to, 4		UMLS:C1837479|OMIM:608742	mondo.json	hypertension, essential, susceptibility to, 4|hypertension, essential, susceptibility to, type 4|Hyt4	http://purl.obolibrary.org/obo/MONDO_0012109	UMLS:C1837479|https://omim.org/entry/608742	predisposition
MONDO:0000142	biolink:Disease	obsolete multiple congenital anomalies-hypotonia-seizures syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000142		
MONDO:0000141	biolink:Disease	mosaic variegated aneuploidy syndrome	Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.	Orphanet:1052|GARD:0003007|MESH:C536987|OMIMPS:257300|SCTID:700056005|UMLS:C1850343|NCIT:C128192|ICD9:758.89	mondo.json	MVA1|Warburton-Anyane-Yeboa syndrome|Mosaic variegated aneuploidy syndrome 1	http://purl.obolibrary.org/obo/MONDO_0000141	Orphanet:1052|NCIT:C128192|http://identifiers.org/mesh/C536987|http://identifiers.org/snomedct/700056005|https://omim.org/phenotypicSeries/PS257300|UMLS:C1850343	ordo_malformation_syndrome
MONDO:0000140	biolink:Disease	obsolete MONDO:0000140			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000140		
MONDO:0012113	biolink:Disease	epilepsy, idiopathic generalized, susceptibility to, 3		OMIM:608762|DOID:0111318	mondo.json	EIG3|epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 9|epilepsy, idiopathic generalized, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0012113	https://omim.org/entry/608762|DOID:0111318	predisposition
MONDO:0014776	biolink:Disease	spinocerebellar ataxia type 42		UMLS:C4225205|Orphanet:458803|NCIT:C171269|OMIM:616795|DOID:0111742|EFO:0009059	mondo.json	spinocerebellar ataxia type 42|spinocerebellar ataxia 42|SCA42	http://purl.obolibrary.org/obo/MONDO_0014776	UMLS:C4225205|DOID:0111742|https://omim.org/entry/616795|NCIT:C171269|Orphanet:458803	ordo_disease
MONDO:0012114	biolink:Disease	Ehlers-Danlos syndrome, Beasley-Cohen type		OMIM:608763|UMLS:C1837462|MESH:C536199	mondo.json	Ehlers-Danlos syndrome with intellectual disability, deafness, and cataract|Ehlers-Danlos syndrome with mental retardation, deafness, and cataract|Ehlers-Danlos syndrome, Beasley-Cohen type	http://purl.obolibrary.org/obo/MONDO_0012114	https://omim.org/entry/608763|http://identifiers.org/mesh/C536199|UMLS:C1837462	n_of_one
MONDO:0014775	biolink:Disease	combined oxidative phosphorylation deficiency 28	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene.	OMIM:616794|DOID:0111470|Orphanet:466784|UMLS:C4225206	mondo.json	COXPD28|combined oxidative phosphorylation deficiency 28|neonatal severe cardiopulmonary failure due to mitochondrial methylation defect|SLC25A26 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 28|combined oxidative phosphorylation defect type 28|combined oxidative phosphorylation deficiency caused by mutation in SLC25A26	http://purl.obolibrary.org/obo/MONDO_0014775	Orphanet:466784|UMLS:C4225206|DOID:0111470|https://omim.org/entry/616794	ordo_disease
HGNC:13339	biolink:NamedThing	KIF4A			mondo.json		http://identifiers.org/hgnc/13339		
MONDO:0012111	biolink:Disease	hypertrophic cardiomyopathy 8	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene.	UMLS:C1837471|MESH:C563866|DOID:0110314|OMIM:608751	mondo.json	cardiomyopathy, hypertrophic, 8|hypertrophic cardiomyopathy type 8|cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 1|cardiomyopathy, familial hypertrophic, 8|cardiomyopathy hypertrophic mid-left ventricular chamber type 1|MYL3 hypertrophic cardiomyopathy|hypertrophic cardiomyopathy caused by mutation in MYL3|cardiomyopathy, familial hypertrophic, type 8|CMH8|hypertrophic cardiomyopathy 8	http://purl.obolibrary.org/obo/MONDO_0012111	https://omim.org/entry/608751|DOID:0110314|UMLS:C1837471|http://identifiers.org/mesh/C563866	
CHEBI:63248	biolink:ChemicalSubstance	oxidising agent	A substance that removes electrons from another reactant in a redox reaction.		mondo.json	oxidiser|oxidising agents|oxidisers|oxidant|oxidizer|oxidizing agent|oxidizers|oxidizing agents|oxidants	http://purl.obolibrary.org/obo/CHEBI_63248		
MONDO:0014774	biolink:Disease	neuroblastoma, susceptibility to, 7		OMIM:616792	mondo.json	NBLST7|neuroblastoma, susceptibility to, type 7|neuroblastoma, susceptibility to, 7|neuroblastoma, susceptibility to, 7; NBLST7	http://purl.obolibrary.org/obo/MONDO_0014774	https://omim.org/entry/616792	predisposition
MONDO:0014773	biolink:Disease	cardiac anomalies - developmental delay - facial dysmorphism syndrome		GARD:0012999|UMLS:C4225208|OMIM:616789|Orphanet:369891|HGNC:22962	mondo.json	MED13L syndrome|intellectual disability and distinctive facial features with or without cardiac defects|MED13L haploinsufficiency syndrome|mental retardation and distinctive Facial features with or without Cardiac defects|cardiac anomalies - developmental delay - facial dysmorphism syndrome|impaired intellectual development and distinctive facial features with or without cardiac defects|MRFACD|mental retardation and distinctive FACIAL features with or without CARDIAC defects|intellectual disability and distinctive Facial features with or without Cardiac defects|intellectual disability and distinctive FACIAL features with or without CARDIAC defects	http://purl.obolibrary.org/obo/MONDO_0014773	UMLS:C4225208|https://omim.org/entry/616789|Orphanet:369891	gard_rare|ordo_malformation_syndrome
MONDO:0012112	biolink:Disease	hypertrophic cardiomyopathy 10	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene.	MESH:C563865|OMIM:608758|UMLS:C1834460|DOID:0110316	mondo.json	cardiomyopathy, familial hypertrophic, type 10|cardiomyopathy, familial hypertrophic, 10|cardiomyopathy, hypertrophic, 10|CMH10|hypertrophic cardiomyopathy 10|MYL2 hypertrophic cardiomyopathy|cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 2|hypertrophic cardiomyopathy caused by mutation in MYL2|hypertrophic cardiomyopathy type 10	http://purl.obolibrary.org/obo/MONDO_0012112	UMLS:C1834460|https://omim.org/entry/608758|DOID:0110316|http://identifiers.org/mesh/C563865	
MONDO:0012117	biolink:Disease	ALG9-congenital disorder of glycosylation	A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).	UMLS:C2931006|DOID:0080564|GARD:0009839|SCTID:720978005|Orphanet:79328|MESH:C535750|OMIM:608776	mondo.json	congenital disorder of glycosylation type IL|congenital disorder of glycosylation type 1L|CDG-IL|ALG9-CDG (CDG-IL)|mannosyltransferase 7-9 deficiency|CDG1L|ALG9-CDG|congenital disorder of glycosylation, type IL|CDG syndrome type IL|carbohydrate deficient glycoprotein syndrome type IL|carbohydrate deficient glycoprotein syndrome type 1L|CDG 1L|CDG IL|ALG9-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0012117	https://omim.org/entry/608776|http://identifiers.org/snomedct/720978005|DOID:0080564|Orphanet:79328|http://identifiers.org/mesh/C535750|UMLS:C2931006	ordo_disease
MONDO:0012118	biolink:Disease	COG7-congenital disorder of glycosylation	COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.	GARD:0009842|Orphanet:79333|MESH:C535754|SCTID:717773005|OMIM:608779	mondo.json	congenital disorder of glycosylation type IIe|CDG syndrome type IIe|congenital disorder of glycosylation type 2e|COG7-CDG (CDG-IIe)|CDG IIe|CDG2E|carbohydrate deficient glycoprotein syndrome type IIe|CDG-IIe|congenital disorder of glycosylation, type IIe|COG7-CDG|COG7-congenital disorder of glycosylation|CDG 2E	http://purl.obolibrary.org/obo/MONDO_0012118	https://omim.org/entry/608779|http://identifiers.org/snomedct/717773005|Orphanet:79333|http://identifiers.org/mesh/C535754	ordo_disease
MONDO:0014779	biolink:Disease	Wilms tumor 6	Any Wilms tumor in which the cause of the disease is a mutation in the REST gene.	OMIM:616806	mondo.json	Wilms tumor 6; WT6|WT6|Wilms tumor type 6|Wilms tumor 6|Wilms tumor 6, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0014779	https://omim.org/entry/616806	
MONDO:0014778	biolink:Disease	Lamb-Shaffer syndrome		OMIM:616803|Orphanet:530983|UMLS:C4225202	mondo.json	Lamb-Shaffer syndrome|LAMSHF|Lamb-Shaffer syndrome; LAMSHF	http://purl.obolibrary.org/obo/MONDO_0014778	UMLS:C4225202|https://omim.org/entry/616803|Orphanet:530983	ordo_disease
MONDO:0012115	biolink:Disease	scoliosis, isolated, susceptibility to, 3		OMIM:608765	mondo.json	scoliosis, isolated, susceptibility to, 3|IS3	http://purl.obolibrary.org/obo/MONDO_0012115	https://omim.org/entry/608765	predisposition
HGNC:15999	biolink:NamedThing	SELENON			mondo.json		http://identifiers.org/hgnc/15999		
MONDO:0012116	biolink:Disease	spinocerebellar ataxia type 8	Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.	OMIM:608768|DOID:0050959|Orphanet:98760|SCTID:715753001|GARD:0004956|UMLS:C1837454|UMLS:C4275024	mondo.json	spinocerebellar ataxia 8|spinocerebellar ataxia type 8|SCA8	http://purl.obolibrary.org/obo/MONDO_0012116	https://omim.org/entry/608768|Orphanet:98760|http://identifiers.org/snomedct/715753001|DOID:0050959|UMLS:C1837454	ordo_disease
MONDO:0014777	biolink:Disease	hypotonia, infantile, with psychomotor retardation and characteristic facies 2	Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene.	OMIM:616801|UMLS:C4225203	mondo.json	hypotonia, infantile, with psychomotor retardation and characteristic facies type 2|hypotonia, infantile, with psychomotor retardation and characteristic facies 2|UNC80 hypotonia, infantile, with psychomotor retardation and characteristic facies|hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in UNC80|IHPRF2|hypotonia, infantile, with psychomotor retardation and characteristic facies 2; IHPRF2	http://purl.obolibrary.org/obo/MONDO_0014777	UMLS:C4225203|https://omim.org/entry/616801	
HGNC:15993	biolink:NamedThing	CHST8			mondo.json		http://identifiers.org/hgnc/15993		
GO:0036160	biolink:NamedThing	melanocyte-stimulating hormone secretion	The regulated release of a melanocyte-stimulating hormone, any of a group of peptide hormones that are produced by cells in the intermediate lobe of the pituitary gland, and stimulate the production of melanin to increase pigmentation.		mondo.json	MSH secretion	http://purl.obolibrary.org/obo/GO_0036160		
GO:0036161	biolink:NamedThing	calcitonin secretion	The regulated release of calcitonin, a peptide hormone that participates in calcium and phosphorus metabolism, from a cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0036161		
MONDO:0014772	biolink:Disease	orofacial cleft 15	Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene.	OMIM:616788|DOID:0080408	mondo.json	cleft lip/palate caused by mutation in DLX4|DLX4 cleft lip/palate|orofacial cleft 15|orofacial cleft type 15|OFC15	http://purl.obolibrary.org/obo/MONDO_0014772	DOID:0080408|https://omim.org/entry/616788	
MONDO:0014771	biolink:Disease	Joubert syndrome 26	Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0556 gene.	OMIM:616784|DOID:0110995|UMLS:C4084843	mondo.json	KIAA0556 Joubert syndrome|JBTS26|Joubert syndrome caused by mutation in KIAA0556|Joubert syndrome 26|Joubert syndrome type 26	http://purl.obolibrary.org/obo/MONDO_0014771	https://omim.org/entry/616784|DOID:0110995|UMLS:C4084843	
MONDO:0012110	biolink:Disease	growth delay due to insulin-like growth factor type 1 deficiency	Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.	Orphanet:73272|UMLS:C4518327|SCTID:724385009|OMIM:608747|UMLS:C1837475|GARD:0010627|MESH:C563867	mondo.json	IGF-1 deficiency|insulin-like growth Factor 1 deficiency|growth retardation with deafness and mental retardation due to IGF1 deficiency|growth retardation with sensorineural deafness and intellectual disability|growth retardation with sensorineural deafness and mental retardation|primary insulin-like growth factor deficiency|growth delay-deafness- intellectual disability syndrome|IGF1 deficiency|insulin-like growth factor I deficiency	http://purl.obolibrary.org/obo/MONDO_0012110	https://omim.org/entry/608747|Orphanet:73272|UMLS:C1837475|http://identifiers.org/mesh/C563867|http://identifiers.org/snomedct/724385009|UMLS:C4518327	ordo_disease
MONDO:0014770	biolink:Disease	Joubert syndrome 25	Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene.	DOID:0110994|UMLS:C4084842|OMIM:616781	mondo.json	Joubert syndrome caused by mutation in CEP104|CEP104 Joubert syndrome|JBTS25|Joubert syndrome 25|Joubert syndrome type 25	http://purl.obolibrary.org/obo/MONDO_0014770	https://omim.org/entry/616781|UMLS:C4084842|DOID:0110994	
NCBITaxon:12475	biolink:OrganismalEntity	Hepatitis delta virus		GC_ID:1	mondo.json	HDV|Hepatitis D virus|hepatitis delta virus HDV	http://purl.obolibrary.org/obo/NCBITaxon_12475		
ENVO:01001689	biolink:NamedThing	mass of gas	An object which is composed primarily of a gas.		mondo.json	gaseous mass	http://purl.obolibrary.org/obo/ENVO_01001689		
MONDO:0000199	biolink:Disease	obsolete familial adenomatous polyposis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000199		
MONDO:0000198	biolink:Disease	obsolete linear skin defects with multiple congenital anomalies			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000198		
ENVO:01001686	biolink:NamedThing	mass of environmental material	An object which is composed primarily of an environmental material		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001686		
ENVO:01001688	biolink:NamedThing	mass of fluid	An object which is composed primarily of a fluid.		mondo.json	fluid mass	http://purl.obolibrary.org/obo/ENVO_01001688		
ENVO:01001687	biolink:NamedThing	mass of solid material	An object which is composed primarily of a solid environmental material		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001687		
MONDO:0000193	biolink:Disease	cortisone reductase deficiency	A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility.	OMIMPS:604931|DOID:0090139|ICD9:277.6|GARD:0009882|SCTID:124138004|UMLS:CN200166|MESH:C536447|Orphanet:168588	mondo.json	deficiency of (R)-20-hydroxysteroid dehydrogenase|deficiency of cortisone reductase|11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of|CORTRD|hyperandrogenism due to cortisone reductase deficiency|HSD 11B1 deficiency|11-beta-hydroxysteroid dehydrogenase deficiency type 1	http://purl.obolibrary.org/obo/MONDO_0000193	http://identifiers.org/snomedct/124138004|Orphanet:168588|UMLS:CN200166|http://identifiers.org/mesh/C536447|DOID:0090139|https://omim.org/phenotypicSeries/PS604931	ordo_malformation_syndrome|gard_rare
MONDO:0000192	biolink:Disease	polyglucosan body myopathy		OMIMPS:615895|UMLS:CN228160	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000192	https://omim.org/phenotypicSeries/PS615895|UMLS:CN228160	
MONDO:0000191	biolink:Disease	obsolete renal hypodysplasia/aplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000191		
MONDO:0000190	biolink:Disease	ventricular fibrillation	A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC)	ICD9:427.41|SCTID:71908006|UMLS:C0042510|MESH:D014693|NCIT:C50799|EFO:0004287|HP:0001663	mondo.json	ventricular fibrillation|ventricular fibrillation (disease)|VFib|VF|fibrillation, ventricular	http://purl.obolibrary.org/obo/MONDO_0000190	http://identifiers.org/snomedct/71908006|http://identifiers.org/mesh/D014693|UMLS:C0042510|NCIT:C50799	
GO:0051716	biolink:NamedThing	cellular response to stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus by a cell and ends with a change in state or activity or the cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0051716		
MONDO:0000197	biolink:Disease	obsolete singleton-Merten syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000197		
MONDO:0000196	biolink:Disease	obsolete ataxia-oculomotor apraxia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000196		
MONDO:0000195	biolink:Disease	obsolete atrial standstill			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000195		
MONDO:0000194	biolink:Disease	obsolete Otofaciocervical syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000194		
HGNC:15968	biolink:NamedThing	GDAP1			mondo.json		http://identifiers.org/hgnc/15968		
MONDO:0012188	biolink:Disease	neuronal ceroid lipofuscinosis 9	Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.	DOID:0110733|Orphanet:228357|OMIM:609055|GARD:0006618|MESH:C537953	mondo.json	CLN9|neuronal ceroid lipofuscinosis type 9|CLN 9|ceroid lipofuscinosis, neuronal, 9|CLN9 disease	http://purl.obolibrary.org/obo/MONDO_0012188	DOID:0110733|https://omim.org/entry/609055|Orphanet:228357|http://identifiers.org/mesh/C537953	gard_rare|ordo_etiological_subtype
MONDO:0012189	biolink:Disease	obsolete Amish infantile epilepsy syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0012189		
HGNC:15964	biolink:NamedThing	DAZ2			mondo.json		http://identifiers.org/hgnc/15964		
HGNC:15965	biolink:NamedThing	DAZ3			mondo.json		http://identifiers.org/hgnc/15965		
MONDO:0012182	biolink:Disease	skeletal dysplasia, rhizomelic, with retinitis pigmentosa		OMIM:609047|UMLS:C1836898|MESH:C563806	mondo.json	skeletal dysplasia, rhizomelic, with retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0012182	http://identifiers.org/mesh/C563806|UMLS:C1836898|https://omim.org/entry/609047	
ENVO:01001682	biolink:NamedThing	air mass	An object which is composed of a continuous mass of air.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001682		
ENVO:01001681	biolink:NamedThing	weather front	A gaseous front which separates two masses of air with different densities and is a principal cause of meteorological phenomena.		mondo.json	meteorological front	http://purl.obolibrary.org/obo/ENVO_01001681		
MONDO:0012183	biolink:Disease	melanoma, cutaneous malignant, susceptibility to, 3		OMIM:609048	mondo.json	melanoma, cutaneous malignant, susceptibility to, type 3|melanoma, cutaneous malignant, 3|melanoma, cutaneous malignant, susceptibility to, 3|susceptibility to cutaneous malignant melanoma 3|CMM3	http://purl.obolibrary.org/obo/MONDO_0012183	https://omim.org/entry/609048	predisposition
ENVO:01001684	biolink:NamedThing	interface layer	A layer which separates two portions of environmental material which possess 1) differing compositions, 2) a discontinuity of some property, or 3) some derivative of some property in a direction normal to the interface.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001684		
MONDO:0012180	biolink:Disease	arrhythmogenic right ventricular dysplasia 9	Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene.	DOID:0110077|UMLS:C1836906|MESH:C563808|OMIM:609040	mondo.json	ARVD9|PKP2 familial isolated arrhythmogenic right ventricular dysplasia|arrhythmogenic right ventricular cardiomyopathy 9|arrhythmogenic right ventricular dysplasia, familial, 9|ARVC9|familial arrhythmogenic right ventricular dysplasia 9|arrhythmogenic right ventricular dysplasia type 9|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in PKP2|arrhythmogenic right ventricular dysplasia, familial, type 9|arrhythmogenic right ventricular dysplasia 9	http://purl.obolibrary.org/obo/MONDO_0012180	http://identifiers.org/mesh/C563808|UMLS:C1836906|DOID:0110077|https://omim.org/entry/609040	
MONDO:0012181	biolink:Disease	hereditary spastic paraplegia 27	A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1.	OMIM:609041|DOID:0110778|Orphanet:101007|MESH:C563807|UMLS:C1836899	mondo.json	autosomal recessive spastic paraplegia type 27|spastic paraplegia 27, autosomal recessive|hereditary spastic paraplegia type 27|autosomal recessive spastic paraplegia 27|SPG27	http://purl.obolibrary.org/obo/MONDO_0012181	http://identifiers.org/mesh/C563807|UMLS:C1836899|DOID:0110778|Orphanet:101007|https://omim.org/entry/609041	ordo_disease
ENVO:01001683	biolink:NamedThing	gaseous surface layer	A fluid surface layer which is composed primarily of some gaseous material.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001683		
MONDO:0012186	biolink:Disease	Fanconi anemia complementation group I	Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.	MESH:C563802|UMLS:C1836861|OMIM:609053|NCIT:C129026|DOID:0111091	mondo.json	Fanconi anemia complementation group I|Fanconi anemia complementation group type I|Fanconi Anemia, complementation group type 1|Fanconi anemia, complementation group I|FANCI|Fanconi Anemia, complementation Group 1	http://purl.obolibrary.org/obo/MONDO_0012186	https://omim.org/entry/609053|http://identifiers.org/mesh/C563802|UMLS:C1836861|NCIT:C129026|DOID:0111091	
MONDO:0012187	biolink:Disease	Fanconi anemia complementation group J	Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.	OMIM:609054|MESH:C563801|UMLS:C1836860|DOID:0111097|NCIT:C129027	mondo.json	Fanconi anemia complementation group J|Fanconi Anemia, complementation group type J|FANCJ|Fanconi anemia, complementation group J|Fanconi anemia complementation group type J	http://purl.obolibrary.org/obo/MONDO_0012187	https://omim.org/entry/609054|http://identifiers.org/mesh/C563801|UMLS:C1836860|NCIT:C129027|DOID:0111097	
MONDO:0012184	biolink:Disease	Pierson syndrome	Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.	MESH:C537185|GARD:0003945|GARD:0009420|UMLS:C1836876|SCTID:723449004|DOID:0060852|NCIT:C128145|OMIM:609049|Orphanet:2670	mondo.json	microcoria-congenital nephrosis syndrome|Pierson syndrome|microcoria-congenital nephrotic syndrome|microcoria - congenital nephrotic syndrome|microcoria - congenital nephrosis	http://purl.obolibrary.org/obo/MONDO_0012184	https://omim.org/entry/609049|DOID:0060852|UMLS:C1836876|http://identifiers.org/mesh/C537185|Orphanet:2670|NCIT:C128145|http://identifiers.org/snomedct/723449004	gard_rare|ordo_malformation_syndrome
ENVO:01001680	biolink:NamedThing	gaseous front	A fluid front which is composed primarily of gaseous material and separates at least two gaseous masses.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001680		
MONDO:0012185	biolink:Disease	spondylometaphyseal dysplasia, A4 type		Orphanet:168555|MESH:C563803|UMLS:C1836862|GARD:0000458|OMIM:609052	mondo.json	spondylometaphyseal dysplasia type A4|spondylometaphyseal dysplasia A4 type|spondylometaphyseal dysplasia, type A4	http://purl.obolibrary.org/obo/MONDO_0012185	https://omim.org/entry/609052|http://identifiers.org/mesh/C563803|UMLS:C1836862|Orphanet:168555	ordo_disease|gard_rare
ENVO:01001679	biolink:NamedThing	fluid front	A fluid interface which separates two fluid masses with differing properties.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001679		
ENVO:01001678	biolink:NamedThing	fluid layer	A layer which is composed primarily of some fluid.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001678		
UBERON:0035371	biolink:AnatomicalEntity	retroperitoneal lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035371		
ENVO:01001677	biolink:NamedThing	fluid interface layer	A surface layer which separates two portions of fluid with respect to either 1) a discontinuity of some fluid property or 2) some derivative of one of these properties in a direction normal to the interface.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001677		
GO:0051726	biolink:NamedThing	regulation of cell cycle	Any process that modulates the rate or extent of progression through the cell cycle.		mondo.json	cell cycle arrest|cell cycle regulation|regulation of cell cycle arrest|arrest of mitotic cell cycle progression|regulation of progression through cell cycle|mitotic cell cycle arrest|positive regulation of cell cycle arrest|control of cell cycle progression|modulation of cell cycle progression|regulation of cell cycle progression|negative regulation of cell cycle arrest|cell cycle regulator|cell cycle modulation|tumor suppressor	http://purl.obolibrary.org/obo/GO_0051726		
HGNC:15979	biolink:NamedThing	TP63			mondo.json		http://identifiers.org/hgnc/15979		
MONDO:0012179	biolink:Disease	narcolepsy 3		OMIM:609039|UMLS:C1836907	mondo.json	narcolepsy 3|NRCLP3	http://purl.obolibrary.org/obo/MONDO_0012179	https://omim.org/entry/609039|UMLS:C1836907	
MONDO:0012177	biolink:Disease	posterior column ataxia-retinitis pigmentosa syndrome	Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.	SCTID:724065003|Orphanet:88628|GARD:0009898|MESH:C536343|UMLS:C4510304|UMLS:C1836916|OMIM:609033	mondo.json	autosomal recessive posterior column ataxia and retinitis pigmentosa|POSTERIOR column ataxia with retinitis pigmentosa|AXPC1|Pcarp|ataxia, posterior column, with retinitis pigmentosa|PCARP	http://purl.obolibrary.org/obo/MONDO_0012177	https://omim.org/entry/609033|UMLS:C4510304|UMLS:C1836916|Orphanet:88628|http://identifiers.org/snomedct/724065003|http://identifiers.org/mesh/C536343	ordo_disease
MONDO:0012178	biolink:Disease	intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature		OMIM:609037|UMLS:C1836915|MESH:C563810	mondo.json	mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature|intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature	http://purl.obolibrary.org/obo/MONDO_0012178	https://omim.org/entry/609037|http://identifiers.org/mesh/C563810|UMLS:C1836915	
HGNC:15974	biolink:NamedThing	TRIM2			mondo.json		http://identifiers.org/hgnc/15974		
HGNC:15977	biolink:NamedThing	HES7			mondo.json		http://identifiers.org/hgnc/15977		
MONDO:0012171	biolink:Disease	marfanoid habitus with situs inversus		OMIM:609008|MESH:C563814|UMLS:C1836994	mondo.json	marfanoid habitus with situs inversus	http://purl.obolibrary.org/obo/MONDO_0012171	https://omim.org/entry/609008|http://identifiers.org/mesh/C563814|UMLS:C1836994	
HGNC:15971	biolink:NamedThing	TSG101			mondo.json		http://identifiers.org/hgnc/15971		
MONDO:0012172	biolink:Disease	mitochondrial trifunctional protein deficiency	Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..	GARD:0003684|ICD9:277.85|OMIM:609015|DOID:0111277|SCTID:237999008|Orphanet:746|NCIT:C98991|MESH:C566945	mondo.json	mitochondrial trifunctional protein deficiency|MTPD|trifunctional Protein deficiency|TFP deficiency|TFPD|trifunctional Protein deficiency with myopathy and neuropathy|mitochondrial trifunctional PROTEIN deficiency	http://purl.obolibrary.org/obo/MONDO_0012172	https://omim.org/entry/609015|NCIT:C98991|DOID:0111277|Orphanet:746|http://identifiers.org/mesh/C566945|http://identifiers.org/snomedct/237999008	gard_rare|ordo_disease
ENVO:01001673	biolink:NamedThing	fluid surface layer	A surface layer which is composed primarily of some liquid or gas.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001673		
MONDO:0012170	biolink:Disease	autosomal recessive nonsyndromic hearing loss 36	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene.	MESH:C563815|DOID:0110494|OMIM:609006	mondo.json	ESPN autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 36|DFNB36|deafness, autosomal dominant, without vestibular involvement|deafness, neurosensory, without vestibular involvement, autosomal dominant|deafness, autosomal recessive 36, with or without vestibular involvement|autosomal recessive deafness 36|deafness, autosomal recessive 36|autosomal recessive nonsyndromic deafness 36|autosomal recessive nonsyndromic deafness caused by mutation in ESPN	http://purl.obolibrary.org/obo/MONDO_0012170	https://omim.org/entry/609006|http://identifiers.org/mesh/C563815|DOID:0110494	
MONDO:0012175	biolink:Disease	cataract 28	A cataract that has material basis in variation in the region 6p12-q12.	DOID:0110244|MESH:C563812|OMIM:609026|UMLS:C1836942	mondo.json	cataract 28, age-related cortical, susceptibility to|cataract 28|age-related cortical cataract 1|cataract, age-related cortical, 1|ARCC1|cataract type 28|CTRCT28	http://purl.obolibrary.org/obo/MONDO_0012175	https://omim.org/entry/609026|http://identifiers.org/mesh/C563812|UMLS:C1836942|DOID:0110244	
MONDO:0012176	biolink:Disease	Emanuel syndrome	Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.	GARD:0009835|ICD9:758.5|OMIM:609029|Orphanet:96170|SCTID:702417004|UMLS:C1836929|MESH:C535733	mondo.json	Emanuel syndrome|Ehlers-Danlos syndrome, classic-like, 1|supernumerary der(22) syndrome|Der(22)t(11;22) syndrome|supernumerary Der(22)T(11|supernumerary der(22),t(11;22) syndrome	http://purl.obolibrary.org/obo/MONDO_0012176	http://identifiers.org/mesh/C535733|https://omim.org/entry/609029|UMLS:C1836929|http://identifiers.org/snomedct/702417004|Orphanet:96170	ordo_malformation_syndrome|gard_rare
MONDO:0012173	biolink:Disease	long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.	UMLS:CN074230|NCIT:C129929|OMIM:609016|UMLS:C3711645|SCTID:726021008|GARD:0006867|Orphanet:5|UMLS:CN239369	mondo.json	HELLP syndrome, maternal, of pregnancy|long-chain 3-hydroxy acyl CoA dehydrogenase deficiency|LCHAD deficiency|LCHADD|trifunctional protein deficiency type 1|fatty liver, acute, of pregnancy|3-hydroxyacyl-CoA dehydrogenase long chain deficiency|long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency|long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|long-chain 3-OH acyl-CoA dehydrogenase deficiency|long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0012173	https://omim.org/entry/609016|UMLS:CN074230|UMLS:CN239369|NCIT:C129929|Orphanet:5|http://identifiers.org/snomedct/726021008|UMLS:C3711645	ordo_disease
MONDO:0012174	biolink:Disease	peripheral cone dystrophy		UMLS:C1836946|MESH:C563813|OMIM:609021	mondo.json	peripheral cone dystrophy	http://purl.obolibrary.org/obo/MONDO_0012174	https://omim.org/entry/609021|http://identifiers.org/mesh/C563813|UMLS:C1836946	
MONDO:0000179	biolink:Disease	Neu-Laxova syndrome	Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.	NCIT:C14089|GARD:0000102|OMIMPS:256520|SCTID:77817004|MESH:C536405|Orphanet:2671|ICD9:759.89|UMLS:C0265218	mondo.json	Neu Laxova syndrome|NLS|nuclear localization signal	http://purl.obolibrary.org/obo/MONDO_0000179	UMLS:C0265218|http://identifiers.org/snomedct/77817004|http://identifiers.org/mesh/C536405|NCIT:C14089|https://omim.org/phenotypicSeries/PS256520|Orphanet:2671	ordo_malformation_syndrome|gard_rare
MONDO:0024145	biolink:Disease	obsolete Pierre Robin syndrome associated with collagen disease		Orphanet:138041	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024145	Orphanet:138041	
MONDO:0000178	biolink:Disease	obsolete breasts and/or nipples, aplasia or hypoplasia of			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000178		
MONDO:0000177	biolink:Disease	obsolete laryngeal abductor paralysis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000177		
MONDO:0024148	biolink:Disease	obsolete Pierre Robin syndrome associated with branchial archs anomalies		Orphanet:138050	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024148	Orphanet:138050	
MONDO:0024147	biolink:Disease	obsolete Pierre Robin syndrome associated with a chromosomal anomaly		Orphanet:138047	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024147	Orphanet:138047	
NCBITaxon:12455	biolink:OrganismalEntity	Borna disease virus		GC_ID:1|PMID:25449305	mondo.json	Borna disease virus BDV|BDV	http://purl.obolibrary.org/obo/NCBITaxon_12455		
MONDO:0000176	biolink:Disease	obsolete megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000176		
MONDO:0024149	biolink:Disease	obsolete Pierre Robin syndrome associated with bone disease		Orphanet:138055	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024149	Orphanet:138055	
UBERON:0035383	biolink:AnatomicalEntity	lateral wall of nasopharynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035383		
MONDO:0000171	biolink:Disease	muscular dystrophy-dystroglycanopathy, type A		MESH:D058494|NCIT:C99109|DOID:0050560|OMIMPS:236670|SCTID:111504002|UMLS:CN239483|GARD:0002599|OMIM:236670|Orphanet:899	mondo.json	hard syndrome|cerebroocular dysgenesis|Warburg syndrome|Walker-Warburg muscular dystrophy|cerebroocular dysplasia muscular dystrophy syndrome|hydrocephalus-agyria-retinal dysplasia syndrome|Pagon syndrome|WWS|Chemke syndrome|hydrocephalus, agyria and retinal dysplasia|cerebroocular dysplasia-muscular dystrophy syndrome|hard +/- E syndrome|Walker-Warburg syndrome	http://purl.obolibrary.org/obo/MONDO_0000171	Orphanet:899|https://omim.org/phenotypicSeries/PS236670|http://identifiers.org/mesh/D058494|UMLS:CN239483|http://identifiers.org/snomedct/111504002|DOID:0050560|NCIT:C99109	ordo_disease
MONDO:0000170	biolink:Disease	microphthalmia, isolated, with coloboma	A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.	Orphanet:98938|MESH:C537463|OMIM:601186|UMLS:CN228419|OMIMPS:300345|GARD:0003644	mondo.json	microphthalmos bilateral, colobomatous orbital cyst|microphthalmia-anophthalmia-coloboma syndrome|MAC|MCOPCB1|microphthalmia associated with colobomatous cyst|microphthalmia with colobomatous cyst|colobomatous microphthalmia	http://purl.obolibrary.org/obo/MONDO_0000170	https://omim.org/phenotypicSeries/PS300345|UMLS:CN228419|http://identifiers.org/mesh/C537463|Orphanet:98938	gard_rare|ordo_malformation_syndrome
MONDO:0000175	biolink:Disease	obsolete ataxia-telangiectasia-like disorder			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000175		
MONDO:0000174	biolink:Disease	obsolete split-hand/foot malformation with long bone deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000174		
MONDO:0000173	biolink:Disease	muscular dystrophy-dystroglycanopathy, type C		OMIMPS:609308|UMLS:CN262500	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000173	https://omim.org/phenotypicSeries/PS609308|UMLS:CN262500	
MONDO:0000172	biolink:Disease	muscular dystrophy-dystroglycanopathy, type B		UMLS:CN228400|OMIMPS:613155	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000172	https://omim.org/phenotypicSeries/PS613155|UMLS:CN228400	
MONDO:0012168	biolink:Disease	dyslexia, susceptibility to, 8		OMIM:608995	mondo.json	DYX8|dyslexia, susceptibility to, 8, multifactorial|dyslexia, susceptibility to, 8	http://purl.obolibrary.org/obo/MONDO_0012168	https://omim.org/entry/608995	predisposition
CL:1001005	biolink:Cell	glomerular capillary endothelial cell		KUPO:0001037	mondo.json		http://purl.obolibrary.org/obo/CL_1001005		
HGNC:15946	biolink:NamedThing	RP1L1			mondo.json		http://identifiers.org/hgnc/15946		
MONDO:0012169	biolink:Disease	premature ovarian failure 3		UMLS:C1837008|MESH:C563816|OMIM:608996	mondo.json	premature ovarian failure type 3|Pof3|premature ovarian failure 3	http://purl.obolibrary.org/obo/MONDO_0012169	UMLS:C1837008|http://identifiers.org/mesh/C563816|https://omim.org/entry/608996	
MONDO:0012166	biolink:Disease	autosomal dominant sensory ataxia 1	Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene.	DOID:0111170|OMIM:608984|UMLS:C1837015	mondo.json	Adsa|SNAX1|ADSA|hereditary ataxia caused by mutation in RNF170|RNF170 hereditary ataxia|ataxia, sensory, 1, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012166	UMLS:C1837015|https://omim.org/entry/608984|DOID:0111170	
MONDO:0012167	biolink:Disease	atrial fibrillation, familial, 2		OMIM:608988|UMLS:C1837812|MESH:C563903	mondo.json	ATFB2|atrial fibrillation, familial, 2	http://purl.obolibrary.org/obo/MONDO_0012167	UMLS:C1837812|http://identifiers.org/mesh/C563903|https://omim.org/entry/608988	
MONDO:0012160	biolink:Disease	spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.	UMLS:C1837073|Orphanet:85167|OMIM:608940|MESH:C563825|GARD:0010647	mondo.json	SMDCRD|spondylometaphyseal dysplasia with cone-rod dystrophy|spondylometaphyseal dysplasia-cone-rod dystrophy syndrome|SmD-CRD	http://purl.obolibrary.org/obo/MONDO_0012160	http://identifiers.org/mesh/C563825|https://omim.org/entry/608940|Orphanet:85167|UMLS:C1837073	ordo_disease
CHR:9606-chr10p11.21-p12.31	biolink:NamedThing	10p11.21-p12.31 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr10p11.21-p12.31		
MONDO:0012161	biolink:Disease	susceptibility to respiratory infections associated with CD8alpha chain mutation	Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.	UMLS:C1837065|MESH:C563824|SCTID:766983005|Orphanet:169085|OMIM:608957	mondo.json	CD8 deficiency, familial|familial CD8 deficiency|susceptibility to respiratory infections associated with CD8alpha chain mutation	http://purl.obolibrary.org/obo/MONDO_0012161	Orphanet:169085|http://identifiers.org/snomedct/766983005|http://identifiers.org/mesh/C563824|https://omim.org/entry/608957|UMLS:C1837065	ordo_disease|predisposition
MONDO:0012164	biolink:Disease	Meacham syndrome	Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.	OMIM:608978|UMLS:C1837026|GARD:0003432|SCTID:722461004|Orphanet:3097|MESH:C538162	mondo.json	Meacham-Winn-Culler syndrome|Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype|Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome|Meacham Winn Culler syndrome|Meacham syndrome	http://purl.obolibrary.org/obo/MONDO_0012164	UMLS:C1837026|Orphanet:3097|http://identifiers.org/snomedct/722461004|http://identifiers.org/mesh/C538162|https://omim.org/entry/608978	ordo_malformation_syndrome
MONDO:0012165	biolink:Disease	BNAR syndrome	BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome.	GARD:0010595|SCTID:717940006|Orphanet:217266|MESH:C567672|UMLS:C4303547|OMIM:608980|UMLS:C2750433	mondo.json	bifid NOSE with or without anorectal and renal anomalies|BNAR|bifid nose with or without anorectal and renal anomalies	http://purl.obolibrary.org/obo/MONDO_0012165	UMLS:C4303547|http://identifiers.org/snomedct/717940006|UMLS:C2750433|Orphanet:217266|https://omim.org/entry/608980|http://identifiers.org/mesh/C567672	ordo_malformation_syndrome
MONDO:0012162	biolink:Disease	patterned macular dystrophy 2	Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene.	OMIM:608970|DOID:0060864|UMLS:C1837029	mondo.json	butterfly-shaped pigmentary maculary dystrophy 2|macular dystrophy, patterned, 2|MDPT2|macular dystrophy, butterfly-Shaped pigmentary, 2|patterned macular dystrophy caused by mutation in CTNNA1|CTNNA1 patterned macular dystrophy|patterned macular dystrophy type 2|macular dystrophy, patterned, type 2	http://purl.obolibrary.org/obo/MONDO_0012162	UMLS:C1837029|DOID:0060864|https://omim.org/entry/608970	
MONDO:0012163	biolink:Disease	immunodeficiency 104	A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.	UMLS:C1837028|MESH:C563822|Orphanet:169157|DOID:0090014|Orphanet:169160|Orphanet:169154|OMIM:608971	mondo.json	IMD104|autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID|severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type|SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive|severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive|severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive|autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID	http://purl.obolibrary.org/obo/MONDO_0012163	DOID:0090014|UMLS:C1837028|http://identifiers.org/mesh/C563822|https://omim.org/entry/608971	
CL:0011030	biolink:Cell	dermal microvascular endothelial cell	Any microvascular endothelial cell that is part of the dermis.		mondo.json	dermal microvascular endothelium cell|DMEC cell	http://purl.obolibrary.org/obo/CL_0011030		
MONDO:0000189	biolink:Disease	obsolete Schindler disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000189		
MONDO:0000188	biolink:Disease	GLUT1 deficiency syndrome	An epileptic encephalopathy resulting from impaired glucose transport into the brain.	OMIMPS:606777	mondo.json	GLUT1DS|GLUT1 deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0000188	https://omim.org/phenotypicSeries/PS606777	
MONDO:0000187	biolink:Disease	obsolete ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000187		
ENVO:01001698	biolink:NamedThing	polar front	A weather front which separates air masses of tropical and polar origin.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001698		
MONDO:0000182	biolink:Disease	congenital myasthenic syndrome with tubular aggregates	A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers.	OMIMPS:610542|UMLS:CN228621	mondo.json	myasthenic syndrome, congenital, with tubular aggregates|CMS-TA	http://purl.obolibrary.org/obo/MONDO_0000182	UMLS:CN228621|https://omim.org/phenotypicSeries/PS610542	
MONDO:0000181	biolink:Disease	microcephaly and chorioretinopathy		OMIMPS:251270	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000181	https://omim.org/phenotypicSeries/PS251270	
MONDO:0000180	biolink:Disease	obsolete inflammatory skin and bowel disease, neonatal			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000180		
UBERON:0035398	biolink:AnatomicalEntity	branch of external carotid artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035398		
MONDO:0000186	biolink:Disease	obsolete spondyloepimetaphyseal dysplasia with joint laxity			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000186		
MONDO:0000185	biolink:Disease	obsolete polyposis syndrome, hereditary mixed			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000185		
MONDO:0000184	biolink:Disease	obsolete congenital vitamin K-dependent coagulation factors combined deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000184		
MONDO:0000183	biolink:Disease	obsolete hypertrophic osteoarthropathy, primary			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000183		
MONDO:0012157	biolink:Disease	congenital myasthenic syndrome 4C	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.	GARD:0010108|OMIM:608931|DOID:0110679	mondo.json	myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency|CMS Id|Cms Id, formerly|myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency|congenital myasthenic syndrome type Id|Cms Id|CMS4C|CMS1D|myasthenia, familial infantile, 1, formerly|congenital myasthenic syndrome associated with acetylcholine receptor deficiency|congenital myasthenic syndrome type 4C|familial infantile myasthenia 1|myasthenia, familial infantile, 1|FIM1|myasthenic syndrome, congenital, type Id|congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency	http://purl.obolibrary.org/obo/MONDO_0012157	DOID:0110679|https://omim.org/entry/608931	
MONDO:0012158	biolink:Disease	keratoconus 2		OMIM:608932|MESH:C563827|UMLS:C1837090	mondo.json	keratoconus 2|KTCN2	http://purl.obolibrary.org/obo/MONDO_0012158	UMLS:C1837090|http://identifiers.org/mesh/C563827|https://omim.org/entry/608932	
MONDO:0012155	biolink:Disease	choanal atresia	Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.	Orphanet:137914|MESH:D002754|ICD9:748.0|SCTID:204508009|ICD10CM:Q30.0|MedDRA:10008587|DOID:9574|OMIM:608911	mondo.json	posterior choanal atresia|choanal atresia, POSTERIOR|atresia of nares|imperforate nares|PCA	http://purl.obolibrary.org/obo/MONDO_0012155	http://purl.bioontology.org/ontology/ICD10CM/Q30.0|http://identifiers.org/snomedct/204508009|DOID:9574|https://omim.org/entry/608911|http://identifiers.org/mesh/D002754|Orphanet:137914	ordo_morphological_anomaly
MONDO:0012156	biolink:Disease	myasthenic syndrome, congenital, 1B, fast-channel	A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q.	UMLS:C4225405|DOID:0110662|OMIM:608930|UMLS:C1837122	mondo.json	congenital myasthenic syndrome 1B|myasthenic syndrome, congenital, 1B, FAST-channel|myasthenic syndrome, congenital, 1B, fast-channel|congenital myasthenic syndrome 1B, fast-channel|CMS1B|congenital myasthenic syndrome type 1B	http://purl.obolibrary.org/obo/MONDO_0012156	UMLS:C4225405|UMLS:C1837122|DOID:0110662|https://omim.org/entry/608930	
MONDO:0012159	biolink:Disease	lung cancer susceptibility 1		UMLS:C1837089|OMIM:608935	mondo.json	LNCR1|lung cancer susceptibility|lung cancer susceptibility 1	http://purl.obolibrary.org/obo/MONDO_0012159	UMLS:C1837089|https://omim.org/entry/608935	
HGNC:15954	biolink:NamedThing	TOE1			mondo.json		http://identifiers.org/hgnc/15954		
MONDO:0012150	biolink:Disease	attention deficit-hyperactivity disorder, susceptibility to, 2		OMIM:608904	mondo.json	attention deficit-hyperactivity disorder, susceptibility to, 2|ADHD2|attention Deficit-hyperactivity disorder, susceptibility to, type 2	http://purl.obolibrary.org/obo/MONDO_0012150	https://omim.org/entry/608904	predisposition
MONDO:0012153	biolink:Disease	Alzheimer disease 9		UMLS:C1837149|MESH:C563834|DOID:0111364|OMIM:608907	mondo.json	Alzheimer disease 9, susceptibility to|AD9|Alzheimer disease 9, late-onset|Alzheimer disease 9	http://purl.obolibrary.org/obo/MONDO_0012153	DOID:0111364|UMLS:C1837149|http://identifiers.org/mesh/C563834|https://omim.org/entry/608907	
NCBITaxon:12461	biolink:OrganismalEntity				mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_12461		
MONDO:0012154	biolink:Disease	myopia 6	Any myopia in which the cause of the disease is a mutation in the SCO2 gene.	GARD:0009937|MESH:C536105|OMIM:608908	mondo.json	MYP6|myopia, susceptibility to|myopia 6|SCO2 myopia (disease)|myopia type 6|myopia (disease) caused by mutation in SCO2	http://purl.obolibrary.org/obo/MONDO_0012154	http://identifiers.org/mesh/C536105|https://omim.org/entry/608908	gard_rare
ENVO:01001691	biolink:NamedThing	mass of compounded environmental materials	An mass of environmental materials which has appreciable quantities of several individual materials, such that the removal of one would convert the mass into a different entity.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001691		
MONDO:0012151	biolink:Disease	attention deficit-hyperactivity disorder, susceptibility to, 3		OMIM:608905	mondo.json	attention deficit-hyperactivity disorder, susceptibility to, 3|ADHD3|attention Deficit-hyperactivity disorder, susceptibility to, type 3	http://purl.obolibrary.org/obo/MONDO_0012151	https://omim.org/entry/608905	predisposition
ENVO:01001690	biolink:NamedThing	mass of liquid	An object which is composed primarily of a liquid.		mondo.json	liquid mass	http://purl.obolibrary.org/obo/ENVO_01001690		
MONDO:0012152	biolink:Disease	attention deficit-hyperactivity disorder, susceptibility to, 4		OMIM:608906	mondo.json	ADHD4|attention deficit-hyperactivity disorder, susceptibility to, 4|attention Deficit-hyperactivity disorder, susceptibility to, type 4	http://purl.obolibrary.org/obo/MONDO_0012152	https://omim.org/entry/608906	predisposition
MONDO:0002611	biolink:Disease	obsolete benign epilepsy with centrotemporal spikes			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002611		
MONDO:0002612	biolink:Disease	frontal lobe epilepsy	A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)	MESH:D017034|DOID:3331|UMLS:C0085541|SCTID:230394006	mondo.json	epilepsy of frontal lobe|frontal lobe epilepsy	http://purl.obolibrary.org/obo/MONDO_0002612	DOID:3331|http://identifiers.org/mesh/D017034|UMLS:C0085541|http://identifiers.org/snomedct/230394006	
MONDO:0002613	biolink:Disease	histrionic personality disorder	A disorder characterized by an enduring pattern of excessively intense and superficial emotionality, attention seeking behavior, seductive appearance and speech, self dramatization and/or theatrical behavior.	ICD9:301.59|NCIT:C92634|SCTID:55341008|ICD9:301.50|DOID:334|ICD10CM:F60.4|HP:0012077|ICD9:301.5|MESH:D006677	mondo.json	histrionic personality disorder|histrionic personality disorder (disease)	http://purl.obolibrary.org/obo/MONDO_0002613	NCIT:C92634|http://purl.bioontology.org/ontology/ICD10CM/F60.4|http://identifiers.org/mesh/D006677|DOID:334|http://identifiers.org/snomedct/55341008	
MONDO:0002614	biolink:Disease	bone inflammation disease	Inflammation of the bone.	DOID:3342|MESH:D010000|UMLS:C0029400|SCTID:274144001	mondo.json	osteitis|bone inflammatory disease|inflammatory disorder of bone	http://purl.obolibrary.org/obo/MONDO_0002614	http://identifiers.org/snomedct/274144001|DOID:3342|http://identifiers.org/mesh/D010000|UMLS:C0029400	
MONDO:0002610	biolink:Disease	purpura	A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color.	MESH:D011693|UMLS:C0034150|HP:0000979|DOID:3326|SCTID:387778001	mondo.json	purpura|purpura (disease)|purpuric disorder	http://purl.obolibrary.org/obo/MONDO_0002610	http://identifiers.org/mesh/D011693|UMLS:C0034150|http://identifiers.org/snomedct/387778001|DOID:3326	
MONDO:0014600	biolink:Disease	dyskeratosis congenita, autosomal recessive 6	Any dyskeratosis congenita in which the cause of the disease is a mutation in the PARN gene.	OMIM:616353|Orphanet:3322|DOID:0070024|UMLS:C4225356	mondo.json	dyskeratosis congenita, autosomal recessive 6|dyskeratosis congenita caused by mutation in PARN|PARN dyskeratosis congenita|autosomal recessive dyskeratosis congenita 6|DKCB6|dyskeratosis congenita, autosomal recessive type 6	http://purl.obolibrary.org/obo/MONDO_0014600	DOID:0070024|UMLS:C4225356|https://omim.org/entry/616353	
HGNC:6116	biolink:NamedThing	IRF1			mondo.json		http://identifiers.org/hgnc/6116		
HGNC:8778	biolink:NamedThing	PDE3A			mondo.json		http://identifiers.org/hgnc/8778		
MONDO:0014604	biolink:Disease	Parkinson disease 21	Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the DNAJC13 gene.	UMLS:C4225353|OMIM:616361|DOID:0111251	mondo.json	Parkinson disease type 21|DNAJC13 hereditary late onset Parkinson disease|hereditary late onset Parkinson disease caused by mutation in DNAJC13|PARK21|Parkinson disease 21	http://purl.obolibrary.org/obo/MONDO_0014604	https://omim.org/entry/616361|UMLS:C4225353|DOID:0111251	
HGNC:6118	biolink:NamedThing	IRF3			mondo.json		http://identifiers.org/hgnc/6118		
MONDO:0014603	biolink:Disease	autosomal dominant nonsyndromic hearing loss 40	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM gene.	OMIM:616357|DOID:0110566|UMLS:C4084708	mondo.json	CRYM autosomal dominant nonsyndromic deafness|autosomal dominant deafness 40|autosomal dominant nonsyndromic deafness type 40|DFNA40|deafness, autosomal dominant 40|autosomal dominant nonsyndromic deafness 40|autosomal dominant nonsyndromic deafness caused by mutation in CRYM|deafness, autosomal dominant type 40	http://purl.obolibrary.org/obo/MONDO_0014603	DOID:0110566|UMLS:C4084708|https://omim.org/entry/616357	
MONDO:0014602	biolink:Disease	intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1.	DOID:0070065|UMLS:C4225354|Orphanet:457279|OMIM:616355	mondo.json	mental retardation, autosomal dominant type 35|autosomal dominant mental retardation 35|intellectual disability, autosomal dominant 35|mental retardation, autosomal dominant 35|autosomal dominant intellectual disability 35|intellectual disability, autosomal dominant type 35|autosomal dominant non-syndromic intellectual disability 35|MRD35	http://purl.obolibrary.org/obo/MONDO_0014602	Orphanet:457279|DOID:0070065|UMLS:C4225354|https://omim.org/entry/616355	ordo_malformation_syndrome
MONDO:0014601	biolink:Disease	autosomal recessive spinocerebellar ataxia 20	Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene.	UMLS:C4225355|Orphanet:397709|OMIM:616354|DOID:0080066	mondo.json	autosomal recessive spinocerebellar ataxia type 20|spinocerebellar ataxia, autosomal recessive type 20|intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome|intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|spinocerebellar ataxia, autosomal recessive 20|SNX14 autosomal recessive cerebellar ataxia|autosomal recessive cerebellar ataxia caused by mutation in SNX14|SCAR20	http://purl.obolibrary.org/obo/MONDO_0014601	Orphanet:397709|DOID:0080066|https://omim.org/entry/616354|UMLS:C4225355	ordo_malformation_syndrome
MONDO:0002608	biolink:Disease	obsolete gangliosidosis GM2			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002608		
MONDO:0002609	biolink:Disease	obsolete gangliosidosis GM1			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002609		
MONDO:0002604	biolink:Disease	pericytic neoplasm	A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels.	NCIT:C6528|UMLS:C1335392|DOID:3316	mondo.json	Pericytic neoplasm|Pericytic tumor|malignant perivascular cancer|perivascular neoplasm|perivascular tumor	http://purl.obolibrary.org/obo/MONDO_0002604	DOID:3316|NCIT:C6528|UMLS:C1335392	
HGNC:8773	biolink:NamedThing	PDE11A			mondo.json		http://identifiers.org/hgnc/8773		
MONDO:0002605	biolink:Disease	hepatic angiomyolipoma	An angiomyolipoma arising from the liver.	UMLS:C1333962|NCIT:C27485|DOID:3317	mondo.json	liver PEComa|liver angiomyolipoma	http://purl.obolibrary.org/obo/MONDO_0002605	UMLS:C1333962|DOID:3317|NCIT:C27485	
HGNC:8772	biolink:NamedThing	PDE10A			mondo.json		http://identifiers.org/hgnc/8772		
MONDO:0002606	biolink:Disease	epithelioid type angiomyolipoma	An angiomyolipoma composed exclusively or predominantly by polygonal epithelioid cells with eosinophilic cytoplasm, often associated with cytologic atypia.	UMLS:C1333426|DOID:3318|NCIT:C38151	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002606	DOID:3318|NCIT:C38151	
MONDO:0002607	biolink:Disease	obsolete lymphangioleiomyomatosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002607		
MONDO:0002622	biolink:Disease	multifocal osteogenic sarcoma	A primary bone osteosarcoma affecting multiple bone sites.	DOID:3360|NCIT:C6470|UMLS:C1334820	mondo.json	multicentric osteosarcoma|multifocal osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0002622	NCIT:C6470|UMLS:C1334820|DOID:3360	
MONDO:0002623	biolink:Disease	pediatric osteosarcoma	An osteosarcoma occurring in childhood.	UMLS:C1332986|DOID:3361|NCIT:C6585	mondo.json	osteosarcoma|childhood osteogenic sarcoma|pediatric osteosarcoma|childhood osteosarcoma (disease)|osteosarcoma (disease) of childhood|pediatric osteosarcoma (disease)|childhood osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0002623	NCIT:C6585|UMLS:C1332986|DOID:3361	
MONDO:0002624	biolink:Disease	bone leiomyosarcoma	A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells.	UMLS:C1332579|NCIT:C7154|DOID:3367	mondo.json	leiomyosarcoma of bone|bone leiomyosarcoma|leiomyosarcoma of bone tissue|bone tissue leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0002624	UMLS:C1332579|DOID:3367|NCIT:C7154	
MONDO:0002625	biolink:Disease	Ewing sarcoma of bone	A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor.	SCTID:307608006|UMLS:C0585474|DOID:3368|ICD9:170.9|NCIT:C4835	mondo.json	skeletal Ewing's sarcoma|bone localized Ewing's sarcoma|osseous Ewing's sarcoma|bone tissue Ewing sarcoma|Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor|skeletal Ewing's tumor|bone Ewing's sarcoma|Ewing's sarcoma, osseous|osseous Ewing's tumor|localized skeletal Ewing's sarcoma|Ewing sarcoma of bone|bone Ewing sarcoma|Ewing's sarcoma of bone|bone localized Ewing sarcoma	http://purl.obolibrary.org/obo/MONDO_0002625	DOID:3368|http://identifiers.org/snomedct/307608006|NCIT:C4835|UMLS:C0585474	
MONDO:0002620	biolink:Disease	localized osteosarcoma	A non-disseminated osteosarcoma.	UMLS:C0278511|NCIT:C7780|DOID:3356	mondo.json	localized osteogenic sarcoma|localized osteosarcoma|osteosarcoma, localized	http://purl.obolibrary.org/obo/MONDO_0002620	NCIT:C7780|UMLS:C0278511|DOID:3356	
UBERON:0035450	biolink:AnatomicalEntity	cervical part of esophagus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035450		
MONDO:0002621	biolink:Disease	extraosseous osteosarcoma	An osteosarcoma arising from the soft tissue.	NCIT:C8810|SCTID:404077005|DOID:3357|ICD9:170.9|UMLS:C0855052	mondo.json	extraskeletal osteosarcoma|osteosarcoma, extraskeletal, malignant|soft tissue osteosarcoma|extraskeletal osteogenic sarcoma|extraosseous osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0002621	http://identifiers.org/snomedct/404077005|UMLS:C0855052|NCIT:C8810|DOID:3357	
HGNC:6125	biolink:NamedThing	IRS1			mondo.json		http://identifiers.org/hgnc/6125		
HGNC:8788	biolink:NamedThing	PDE6D			mondo.json		http://identifiers.org/hgnc/8788		
HGNC:8787	biolink:NamedThing	PDE6C			mondo.json		http://identifiers.org/hgnc/8787		
HGNC:6126	biolink:NamedThing	IRS2			mondo.json		http://identifiers.org/hgnc/6126		
HGNC:8789	biolink:NamedThing	PDE6G			mondo.json		http://identifiers.org/hgnc/8789		
CHEBI:16842	biolink:ChemicalSubstance	formaldehyde	An aldehyde resulting from the formal oxidation of methanol.		mondo.json	FORMALIN|Formalin|Methanal|Formaldehyd|Methylene oxide|FORMALDEHYDE|formaldehyde|Formaldehyde|Oxomethylene|Oxomethane	http://purl.obolibrary.org/obo/CHEBI_16842		
MONDO:0002619	biolink:Disease	bone fibrosarcoma	A usually aggressive malignant neoplasm arising from the bone. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	DOID:3354|NCIT:C6604|UMLS:C2733623	mondo.json	bone tissue fibrosarcoma (disease)|fibrosarcoma of bone|bone fibrosarcoma|fibrosarcoma of the bone	http://purl.obolibrary.org/obo/MONDO_0002619	DOID:3354|NCIT:C6604|UMLS:C2733623	
HGNC:6120	biolink:NamedThing	IRF5			mondo.json		http://identifiers.org/hgnc/6120		
MONDO:0002615	biolink:Disease	xanthomatosis	A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells.	DOID:3345|UMLS:C0043325|HP:0000991|SCTID:63103006|MESH:D014973	mondo.json	xanthomatosis (disease)|xanthelasmatosis|xanthomatosis	http://purl.obolibrary.org/obo/MONDO_0002615	DOID:3345|UMLS:C0043325|http://identifiers.org/snomedct/63103006|http://identifiers.org/mesh/D014973	
HGNC:6121	biolink:NamedThing	IRF6			mondo.json		http://identifiers.org/hgnc/6121		
MONDO:0002616	biolink:Disease	mesenchymal cell neoplasm	A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma.	NCIT:C7059|DOID:3350|UMLS:C1334699	mondo.json	benign miscellaneous mesenchymal tumor|mesenchymal tumor|mesenchymal neoplasm|mesenchymal cell neoplasm|mesenchymal cell tumor	http://purl.obolibrary.org/obo/MONDO_0002616	NCIT:C7059|DOID:3350|UMLS:C1334699	
HGNC:6122	biolink:NamedThing	IRF7			mondo.json		http://identifiers.org/hgnc/6122		
HGNC:8783	biolink:NamedThing	PDE4D			mondo.json		http://identifiers.org/hgnc/8783		
MONDO:0002617	biolink:Disease	bone angiosarcoma	A high-grade malignant vascular neoplasm that arises from the bone. It is characterized by the presence of neoplastic cells with endothelial differentiation.	UMLS:C1332574|DOID:3351|NCIT:C6479	mondo.json	bone hemangiosarcoma|angiosarcoma (disease) of bone tissue|bone angioendothelial sarcoma|osseous hemangiosarcoma|bone tissue angiosarcoma (disease)|osseous angioendothelial sarcoma|bone angiosarcoma|osseous angiosarcoma|bone Hemangioendothelial sarcoma	http://purl.obolibrary.org/obo/MONDO_0002617	DOID:3351|NCIT:C6479|UMLS:C1332574	
HGNC:8786	biolink:NamedThing	PDE6B			mondo.json		http://identifiers.org/hgnc/8786		
MONDO:0002618	biolink:Disease	undifferentiated high grade pleomorphic sarcoma of bone	A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs.	NCIT:C8563|DOID:3352|UMLS:C0740479	mondo.json	undifferentiated high-grade pleomorphic sarcoma|malignant fibrous histiocytoma of bone|undifferentiated high grade pleomorphic sarcoma|malignant bone fibrous histiocytoma|undifferentiated high grade pleomorphic sarcoma of bone|malignant fibrous histiocytoma of the bone	http://purl.obolibrary.org/obo/MONDO_0002618	UMLS:C0740479|NCIT:C8563|DOID:3352	
HGNC:8785	biolink:NamedThing	PDE6A			mondo.json		http://identifiers.org/hgnc/8785		
UBERON:0035465	biolink:AnatomicalEntity	endometrial cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035465		
HGNC:6137	biolink:NamedThing	ITGA2			mondo.json		http://identifiers.org/hgnc/6137		
HGNC:6138	biolink:NamedThing	ITGA2B			mondo.json		http://identifiers.org/hgnc/6138		
HGNC:6139	biolink:NamedThing	ITGA3			mondo.json		http://identifiers.org/hgnc/6139		
CHEBI:16874	biolink:ChemicalSubstance	psychosine	A glycosylsphingoid consisting of sphingosine having a beta-D-galactosyl residue attached at the 1-position.		mondo.json	(2S,3R,4E)-2-amino-3-hydroxyoctadec-4-en-1-yl beta-D-galactopyranoside|beta-psychosine|Galactosylsphingosine|sphingosine galactoside|1-O-beta-D-galactopyranosylsphingosine|Psychosine|1-beta-D-galactosylsphingosine|(2S,3R,4E)-2-amino-1-(beta-D-galactopyranosyloxy)-3-hydroxyoctadec-4-ene|1-O-beta-D-galactosylsphingosine|O-galactosylsphingosine|O-Galactosylsphingosine|1-beta-D-galactosphingosine	http://purl.obolibrary.org/obo/CHEBI_16874		
HGNC:8790	biolink:NamedThing	PDE6H			mondo.json		http://identifiers.org/hgnc/8790		
CHEBI:28829	biolink:ChemicalSubstance	aminophenol	A substituted aniline carrying a hydroxy substituent.		mondo.json	aminobenzenol|aminophenol|hydroxyaniline	http://purl.obolibrary.org/obo/CHEBI_28829		
HGNC:8794	biolink:NamedThing	PDE8B			mondo.json		http://identifiers.org/hgnc/8794		
MONDO:0002600	biolink:Disease	obsolete mixed germ cell cancer			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002600		
MONDO:0002601	biolink:Disease	teratoma	A non-seminomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal-type tissues. Testicular teratomas in children follow a benign clinical course. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor.	ONCOTREE:TT|ICDO:9080/1|DOID:3307|SCTID:36591000119102|MESH:D013724|NCIT:C3403	mondo.json	teratoma	http://purl.obolibrary.org/obo/MONDO_0002601	http://identifiers.org/mesh/D013724|DOID:3307|http://identifiers.org/snomedct/36591000119102|NCIT:C3403	
NCBITaxon:1538075	biolink:OrganismalEntity	Malasseziomycetes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1538075		
MONDO:0002602	biolink:Disease	central nervous system disorder	A disease involving the central nervous system.	SCTID:23853001|MESH:D002493|NCIT:C2934|DOID:331|UMLS:C0007682	mondo.json	central nervous system disease or disorder|disorder of central nervous system|CNS disorder|central nervous system disease|disease of central nervous system|disease or disorder of central nervous system|central nervous system disorder|disease of the central nervous system|central nervous disease	http://purl.obolibrary.org/obo/MONDO_0002602	http://identifiers.org/snomedct/23853001|UMLS:C0007682|http://identifiers.org/mesh/D002493|DOID:331|NCIT:C2934	
MONDO:0002603	biolink:Disease	angiomyolipoma	A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described.	DOID:3314|NCIT:C3734|GARD:0012024|MESH:D018207|ICDO:8860/0|UMLS:C0206633	mondo.json	angiomyolipoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0002603	UMLS:C0206633|DOID:3314|http://identifiers.org/mesh/D018207|NCIT:C3734	
UBERON:0035471	biolink:AnatomicalEntity	posterior surface of kidney			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035471		
HGNC:6149	biolink:NamedThing	ITGAM			mondo.json		http://identifiers.org/hgnc/6149		
HGNC:6142	biolink:NamedThing	ITGA6			mondo.json		http://identifiers.org/hgnc/6142		
HGNC:6143	biolink:NamedThing	ITGA7			mondo.json		http://identifiers.org/hgnc/6143		
CHR:9606-chr17p13	biolink:NamedThing	17p13 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr17p13		
HGNC:6144	biolink:NamedThing	ITGA8			mondo.json		http://identifiers.org/hgnc/6144		
MONDO:0002655	biolink:Disease	cutaneous Paget disease	A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli.	DOID:3450|NCIT:C3302|MESH:D010145	mondo.json	zone of skin Paget disease|cutaneous Paget's disease|extramammary Paget's disease|cutaneous Paget disease	http://purl.obolibrary.org/obo/MONDO_0002655	DOID:3450	
MONDO:0002656	biolink:Disease	skin carcinoma	A carcinoma that arises from epithelial cells of the zone of skin	NCIT:C4914|UMLS:C0699893|DOID:3451	mondo.json	non-melanoma skin cancer|carcinoma of zone of skin|non-melanoma cancer of skin|zone of skin carcinoma|carcinoma of the skin|non-melanoma cancer of the skin|carcinoma of skin|nonmelanoma skin cancer|skin carcinoma|skin cancer, non-melanoma	http://purl.obolibrary.org/obo/MONDO_0002656	NCIT:C4914|UMLS:C0699893|DOID:3451	
MONDO:0002657	biolink:Disease	breast disorder	A disease involving the breast.	MESH:D001941|SCTID:79604008|NCIT:C26709|UMLS:C0006145|ICD9:611.9|DOID:3463|ICD10CM:N60-N65|ICD9:611.8|ICD9:610-612.99	mondo.json	breast diseases|breast disease or disorder|disorder of breast|breast disorder|disease of breast|disease or disorder of breast|breast disease	http://purl.obolibrary.org/obo/MONDO_0002657	http://identifiers.org/snomedct/79604008|NCIT:C26709|http://identifiers.org/mesh/D001941|DOID:3463|UMLS:C0006145|http://purl.bioontology.org/ontology/ICD10CM/N60-N65	
MONDO:0002658	biolink:Disease	iris cancer	A malignant neoplasm involving the iris.	NCIT:C4554|SCTID:188264002|EFO:1000996|UMLS:C0346372|DOID:3478	mondo.json	malignant tumor of iris|cancer of iris|malignant tumor of the iris|iris cancer|malignant neoplasm of iris|malignant iris tumor|malignant iris neoplasm|malignant neoplasm of the iris|tumor of the iris	http://purl.obolibrary.org/obo/MONDO_0002658	NCIT:C4554|UMLS:C0346372|http://identifiers.org/snomedct/188264002|DOID:3478	
MONDO:0002651	biolink:Disease	anal Paget disease	A slowly spreading, erythematous eczematoid plaque in the anal region. Histologically, the basal part or whole thickness of the squamous epithelium is infiltrated by large cells with abundant pale cytoplasm and large nuclei. Half of the cases are associated with an internal malignancy, most often a colorectal adenocarcinoma. The other half of the cases, have a high local recurrence rate and they may become invasive (WHO).	DOID:3446|NCIT:C5598|UMLS:C1332274	mondo.json	anal Paget disease|anal Paget's disease|anus mammary Paget's disease|anus Paget disease|Paget disease of the anus|Paget's disease of anus|Paget's disease of the anus	http://purl.obolibrary.org/obo/MONDO_0002651	UMLS:C1332274|DOID:3446|NCIT:C5598	
MONDO:0002652	biolink:Disease	anus adenocarcinoma	An adenocarcinoma arising in the anal canal epithelium, including the mucosal surface, the anal glands, and the lining of fistulous tracts. The prognosis is related to the stage at diagnosis.	SCTID:423607006|DOID:3447|NCIT:C5600|UMLS:C1332257	mondo.json	anus adenocarcinoma|anal adenocarcinoma|adenocarcinoma of anus|adenocarcinoma of the anus	http://purl.obolibrary.org/obo/MONDO_0002652	UMLS:C1332257|http://identifiers.org/snomedct/423607006|DOID:3447|NCIT:C5600	
MONDO:0002653	biolink:Disease	Paget disease of the penis	A premalignant condition morphologically characterised by the presence of the characteristic Paget cells in the intraepithelial tissue of the penis. It presents as a smooth raised reddish area that may or may not be painful. -- 2003	SCTID:398768004|DOID:3448|NCIT:C27817|UMLS:C0221286	mondo.json	penis Paget's disease|Paget's disease of penis|penile adenocarcinoma|Paget's disease of the penis|Paget disease of the penis|penis Paget disease|penis mammary Paget's disease	http://purl.obolibrary.org/obo/MONDO_0002653	http://identifiers.org/snomedct/398768004|DOID:3448|UMLS:C0221286|NCIT:C27817	
MONDO:0002654	biolink:Disease	uterine disorder	A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma.	UMLS:C0042131|SCTID:12337004|ICD9:621.9|NCIT:C26907|DOID:345|MESH:D014591|ICD9:621.8	mondo.json	uterus disease or disorder|disorder of uterus|uterine disease|disease or disorder of uterus|disease of uterus|uterine disorder|uterus disease	http://purl.obolibrary.org/obo/MONDO_0002654	NCIT:C26907|http://identifiers.org/snomedct/12337004|UMLS:C0042131|http://identifiers.org/mesh/D014591|DOID:345	
MONDO:0014639	biolink:Disease	familial temporal lobe epilepsy 7	A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22.	OMIM:616436|UMLS:C4225327|DOID:0060751	mondo.json	familial temporal lobe epilepsy type 7|epilepsy, familial temporal lobe, 7|ETL7|epilepsy, familial temporal lobe, type 7	http://purl.obolibrary.org/obo/MONDO_0014639	DOID:0060751|UMLS:C4225327|https://omim.org/entry/616436	
MONDO:0002650	biolink:Disease	scrotal carcinoma	A carcinoma that arises from epithelial cells of the scrotum.	DOID:3445|UMLS:C1370468|NCIT:C6389	mondo.json	cancer of scrotum|carcinoma of the scrotum|scrotum carcinoma|scrotal cancer|carcinoma of scrotum|cancer of the scrotum	http://purl.obolibrary.org/obo/MONDO_0002650	DOID:3445|NCIT:C6389|UMLS:C1370468	
MONDO:0014638	biolink:Disease	Fanconi anemia complementation group T	Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.	UMLS:C4084840|OMIM:616435|DOID:0111081	mondo.json	Fanconi Anemia, complementation group type T|FANCT|UBE2T Fanconi anemia|Fanconi anemia caused by mutation in UBE2T|Fanconi anemia complementation group type T|Fanconi anemia, complementation group T	http://purl.obolibrary.org/obo/MONDO_0014638	UMLS:C4084840|DOID:0111081|https://omim.org/entry/616435	
UBERON:0035401	biolink:AnatomicalEntity	posterior wall of nasopharynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035401		
UBERON:0035403	biolink:AnatomicalEntity	hypophysial artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035403		
MONDO:0014644	biolink:Disease	hereditary spastic paraplegia 74	Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.	DOID:0110819|Orphanet:468661|OMIM:616451|UMLS:C4225322	mondo.json	IBA57 hereditary spastic paraplegia|spastic paraplegia 74, autosomal recessive|hereditary spastic paraplegia caused by mutation in IBA57|hereditary spastic paraplegia type 74|autosomal recessive spastic paraplegia 74|SPG74|autosomal recessive spastic paraplegia type 74	http://purl.obolibrary.org/obo/MONDO_0014644	Orphanet:468661|UMLS:C4225322|https://omim.org/entry/616451|DOID:0110819	ordo_disease
HGNC:6158	biolink:NamedThing	ITGB4			mondo.json		http://identifiers.org/hgnc/6158		
MONDO:0014643	biolink:Disease	congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome		Orphanet:464738|OMIM:616449|UMLS:C4225323	mondo.json	BVSYS|Basel-Vanagait-Smirin-Yosef syndrome|BASEL-Vanagaite-SMIRIN-YOSEF syndrome	http://purl.obolibrary.org/obo/MONDO_0014643	UMLS:C4225323|https://omim.org/entry/616449|Orphanet:464738	ordo_malformation_syndrome
MONDO:0014642	biolink:Disease	candidiasis, familial, 9	Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene.	UMLS:C4225324|OMIM:616445	mondo.json	candidiasis, familial, 9|candidiasis, familial, type 9|IL17RC chronic mucocutaneous candidiasis (disease)|chronic mucocutaneous candidiasis (disease) caused by mutation in IL17RC|CANDF9	http://purl.obolibrary.org/obo/MONDO_0014642	UMLS:C4225324|https://omim.org/entry/616445	
MONDO:0014641	biolink:Disease	frontotemporal dementia and/or amyotrophic lateral sclerosis 4	An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14.	UMLS:C4225325|OMIM:616439|DOID:0110069	mondo.json	frontotemporal dementia and/or amyotrophic lateral sclerosis 4|frontotemporal dementia and/or amyotrophic lateral sclerosis type 4|FTDALS4	http://purl.obolibrary.org/obo/MONDO_0014641	UMLS:C4225325|https://omim.org/entry/616439|DOID:0110069	
MONDO:0014648	biolink:Disease	Al-Raqad syndrome		UMLS:C4085595|OMIM:616459	mondo.json	ARS|AL-RAQAD syndrome|Al-Raqad syndrome	http://purl.obolibrary.org/obo/MONDO_0014648	https://omim.org/entry/616459|UMLS:C4085595	
MONDO:0014647	biolink:Disease	developmental and epileptic encephalopathy, 50		Orphanet:448010|OMIM:616457|UMLS:C4225320|DOID:0080419	mondo.json	CAD-CDG|developmental and epileptic encephalopathy 50|congenital disorder of glycosylation, type Iz, formerly|CDG1Z|congenital disorder of glycosylation type 1z|carbohydrate deficient glycoprotein syndrome type Iz|CDG-Iz|congenital disorder of glycosylation, type Iz|epileptic encephalopathy, early infantile, 50|DEE50|EIEE50|CDG syndrome type Iz	http://purl.obolibrary.org/obo/MONDO_0014647	Orphanet:448010|DOID:0080419|UMLS:C4225320|https://omim.org/entry/616457	ordo_disease
MONDO:0014646	biolink:Disease	Zimmermann-Laband syndrome 2	Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the ATP6V1B2 gene.	UMLS:C4225321|OMIM:616455	mondo.json	Zimmermann-Laband syndrome 2|Zimmermann-Laband syndrome type 2|ZLS2|ATP6V1B2 Zimmermann-Laband syndrome|Zimmermann-Laband syndrome caused by mutation in ATP6V1B2	http://purl.obolibrary.org/obo/MONDO_0014646	UMLS:C4225321|https://omim.org/entry/616455	
MONDO:0014645	biolink:Disease	BENTA disease	BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N<l) and few memory B cells. Other findings are low levels of IgM in blood and poor antibody responses to specific vaccines. BENTA disease is caused by mutations in the CARD11 gene. There is no established treatment, but some patients have their spleen removed and there is one case of a hematopoietic stem cell transplantation with good results.	GARD:0013339|Orphanet:464336|UMLS:CN231446|UMLS:CN242071|OMIM:616452	mondo.json	B-cell expansion with NF-kB and T-cell anergy disease|BENTA|B-cell expansion with NFKB and T-cell anergy	http://purl.obolibrary.org/obo/MONDO_0014645	UMLS:CN231446|UMLS:CN242071|https://omim.org/entry/616452|Orphanet:464336	gard_rare|ordo_disease
ENVO:00001999	biolink:NamedThing	marine water body	A significant accumulation of water which is part of a marine biome.		mondo.json	marine waterbody|body of marine water	http://purl.obolibrary.org/obo/ENVO_00001999		
ENVO:00001998	biolink:NamedThing	soil	Soil is an environmental material which is primarily composed of minerals, varying proportions of sand, silt, and clay, organic material such as humus, gases, liquids, and a broad range of resident micro- and macroorganisms.		mondo.json	regolith	http://purl.obolibrary.org/obo/ENVO_00001998		
MONDO:0014640	biolink:Disease	frontotemporal dementia and/or amyotrophic lateral sclerosis 3	An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35.	UMLS:C4225326|OMIM:616437|DOID:0110068|Orphanet:803	mondo.json	frontotemporal dementia and/or amyotrophic lateral sclerosis 3|frontotemporal dementia and/or amyotrophic lateral sclerosis type 3|FTDALS3	http://purl.obolibrary.org/obo/MONDO_0014640	UMLS:C4225326|DOID:0110068|https://omim.org/entry/616437	
MONDO:0002648	biolink:Disease	mammary Paget disease	A malignant neoplasm in which there is infiltration of the skin overlying the breast by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It is almost always associated with an intraductal or invasive ductal carcinoma of the breast. The clinical features include focal skin reddening, and eczema. Retraction of the nipple may sometimes occur.	NCIT:C47857|ICDO:8540/3|MESH:D010144|UMLS:CN200478|DOID:3443	mondo.json	Paget disease of the breast|Paget cell neoplasm|Paget's disease of breast|mammary Paget's disease|Paget's disease of the breast|mammary Paget disease|breast Paget disease	http://purl.obolibrary.org/obo/MONDO_0002648	UMLS:CN200478|NCIT:C47857|DOID:3443|http://identifiers.org/mesh/D010144	
MONDO:0002649	biolink:Disease	scrotum Paget disease	A mammary Paget's disease that involves the scrotum.	DOID:3444|NCIT:C7728|UMLS:C0238330	mondo.json	scrotum Paget's disease|Paget's disease of scrotum|Paget disease of the scrotum|scrotum mammary Paget's disease|scrotum Paget disease|scrotal Paget's disease|Paget's disease of the scrotum	http://purl.obolibrary.org/obo/MONDO_0002649	NCIT:C7728|UMLS:C0238330|DOID:3444	
HGNC:6155	biolink:NamedThing	ITGB2			mondo.json		http://identifiers.org/hgnc/6155		
HP:0008035	biolink:PhenotypicFeature	Retinitis pigmentosa inversa	Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery).	UMLS:C4021559	mondo.json	Central retinitis pigmentosa	http://purl.obolibrary.org/obo/HP_0008035		
ENVO:00001995	biolink:NamedThing	rock	A rock is a naturally occurring solid aggregate of one or more minerals or mineraloids.		mondo.json		http://purl.obolibrary.org/obo/ENVO_00001995		
HGNC:6156	biolink:NamedThing	ITGB3			mondo.json		http://identifiers.org/hgnc/6156		
MONDO:0002666	biolink:Disease	pancreatic signet ring cell adenocarcinoma	A rare pancreatic ductal adenocarcinoma with poor prognosis. It is characterized by the presence of malignant signet ring cells infiltrating the pancreatic parenchyma in an individual cell pattern.	NCIT:C5720|UMLS:C1335317|DOID:3497	mondo.json	signet Ring cell carcinoma of pancreas|pancreatic signet ring cell carcinoma|pancreas signet ring cell carcinoma|pancreatic signet Ring cell carcinoma|signet Ring cell carcinoma of the pancreas	http://purl.obolibrary.org/obo/MONDO_0002666	DOID:3497|NCIT:C5720|UMLS:C1335317	
MONDO:0000003	biolink:Disease	obsolete 17-hydroxysteroid dehydrogenase deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000003		
MONDO:0002667	biolink:Disease	gallbladder signet ring cell adenocarcinoma	An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of signet ring malignant epithelial cells.	DOID:3499|UMLS:C1333758|NCIT:C5745	mondo.json	gall bladder signet ring cell carcinoma|signet Ring cell carcinoma of gallbladder|gallbladder signet Ring cell carcinoma|signet Ring cell carcinoma of the gallbladder	http://purl.obolibrary.org/obo/MONDO_0002667	UMLS:C1333758|DOID:3499|NCIT:C5745	
MONDO:0000002	biolink:Disease	obsolete 46,XX sex reversal			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000002		
MONDO:0000001	biolink:Disease	disease or disorder	A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism.	UMLS:C0012634|NCIT:C2991|Orphanet:377788|MESH:D004194|ICD9:799.9|OGMS:0000031|EFO:0000408|SCTID:64572001|DOID:4	mondo.json	disease|other disease|condition|disease or disorder|diseases|disease or disorder, non-neoplastic|disorders|medical condition|diseases and disorders|disorder	http://purl.obolibrary.org/obo/MONDO_0000001	http://identifiers.org/snomedct/64572001|Orphanet:377788|DOID:4|NCIT:C2991|UMLS:C0012634|http://identifiers.org/mesh/D004194	
HP:0008053	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the iris	Absence or underdevelopment of the iris.	UMLS:C4024748	mondo.json	Absent/underdeveloped iris|Absent/small iris	http://purl.obolibrary.org/obo/HP_0008053		
MONDO:0002668	biolink:Disease	obsolete gallbladder adenocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002668		
MONDO:0002669	biolink:Disease	ampullary signet ring cell adenocarcinoma	An adenocarcinoma arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucin-containing signet-ring cells.	DOID:3501|UMLS:C1332249|NCIT:C6656	mondo.json	ampulla of Vater signet Ring cell carcinoma|ampullary signet ring cell carcinoma|ampullary signet Ring cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002669	UMLS:C1332249|DOID:3501|NCIT:C6656	
MONDO:0000007	biolink:Disease	obsolete atypical Mycobacteriosis, familial			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000007		
MONDO:0002662	biolink:Disease	obsolete plague			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002662		
MONDO:0002663	biolink:Disease	obsolete systemic mastocytosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002663		
MONDO:0000006	biolink:Disease	obsolete alopecia-mental retardation syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000006		
MONDO:0002664	biolink:Disease	extrahepatic bile duct signet ring cell carcinoma	An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of signet ring malignant epithelial cells.	NCIT:C5776|DOID:3494|UMLS:C0861859	mondo.json	signet Ring cell carcinoma of the bile duct|signet Ring cell carcinoma of bile duct|extrahepatic bile duct signet Ring cell carcinoma|bile duct signet ring cell carcinoma|bile duct signet Ring cell carcinoma|signet Ring cell bile duct carcinoma	http://purl.obolibrary.org/obo/MONDO_0002664	UMLS:C0861859|DOID:3494|NCIT:C5776	
MONDO:0000005	biolink:Disease	alopecia, isolated		OMIMPS:203655	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000005	https://omim.org/phenotypicSeries/PS203655	
MONDO:0000004	biolink:Disease	adrenocortical insufficiency	An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency).	NCIT:C26691|DOID:10493|SCTID:386584007|UMLS:C0405580|MESH:D000309|ICD9:255.4|ICD9:255.41|GARD:0006722	mondo.json	adrenal cortical insufficiency|hypocortisolemia|adrenocortical insufficiency|hypocortisolism|adrenal cortical hypofunction|adrenal gland insufficiency|adrenal insufficiency|corticoadrenal insufficiency	http://purl.obolibrary.org/obo/MONDO_0000004	DOID:10493|http://identifiers.org/snomedct/386584007|http://identifiers.org/mesh/D000309|UMLS:C0405580|NCIT:C26691	
MONDO:0002665	biolink:Disease	extrahepatic bile duct adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the extrahepatic bile duct	UMLS:C0279659|NCIT:C7975|DOID:3495	mondo.json	extrahepatic bile duct adenocarcinoma|adenocarcinoma of extrahepatic bile duct|adenocarcinoma of the extrahepatic bile duct	http://purl.obolibrary.org/obo/MONDO_0002665	UMLS:C0279659|DOID:3495|NCIT:C7975	
MONDO:0014629	biolink:Disease	autoimmune interstitial lung disease-arthritis syndrome	A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease.	UMLS:C4225334|Orphanet:444092|OMIM:616414	mondo.json	AILJK|autoimmune interstitial lung, joint, and kidney disease|copa defect|copa syndrome	http://purl.obolibrary.org/obo/MONDO_0014629	Orphanet:444092|UMLS:C4225334|https://omim.org/entry/616414	ordo_disease
MONDO:0014628	biolink:Disease	basal ganglia calcification, idiopathic, 6	Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene.	OMIM:616413|UMLS:C4225335	mondo.json	IBGC6|bilateral striopallidodentate calcinosis caused by mutation in XPR1|basal ganglia calcification, idiopathic, type 6|basal ganglia calcification, idiopathic, 6|XPR1 bilateral striopallidodentate calcinosis	http://purl.obolibrary.org/obo/MONDO_0014628	UMLS:C4225335|https://omim.org/entry/616413	
MONDO:0002660	biolink:Disease	blepharochalasis	An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins.	SCTID:47704002|ICD9:374.34|DOID:348|UMLS:C0005742|HP:0010749|ICD10CM:H02.3	mondo.json	blepharochalasis|blepharochalasis (disease)	http://purl.obolibrary.org/obo/MONDO_0002660	http://identifiers.org/snomedct/47704002|DOID:348|UMLS:C0005742|http://purl.bioontology.org/ontology/ICD10CM/H02.3	
MONDO:0002661	biolink:Disease	uveal disorder	A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma.	MESH:D014603|SCTID:95678007|GARD:0008192|NCIT:C26908|DOID:3480|UMLS:C0042161	mondo.json	disorder of uvea|disorder of uveal tract|uveal tract disease|uveal diseases|disease of uvea|uveal disorder|disease or disorder of uvea|uvea disease|uveal disease|uvea disease or disorder	http://purl.obolibrary.org/obo/MONDO_0002661	UMLS:C0042161|http://identifiers.org/mesh/D014603|DOID:3480|http://identifiers.org/snomedct/95678007|NCIT:C26908	
MONDO:0014627	biolink:Disease	dystonia 27	Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene.	Orphanet:464440|DOID:0090050|OMIM:616411|UMLS:C4225336	mondo.json	dystonia type 27|DYT27|COL6A3 dystonic disorder|dystonia 27|primary dystonia, DYT27 type|dystonic disorder caused by mutation in COL6A3	http://purl.obolibrary.org/obo/MONDO_0014627	UMLS:C4225336|Orphanet:464440|DOID:0090050|https://omim.org/entry/616411	ordo_disease
MONDO:0014633	biolink:Disease	myoclonic-atonic epilepsy		UMLS:C4085238|OMIM:616421	mondo.json	mae|myoclonic-atonic epilepsy	http://purl.obolibrary.org/obo/MONDO_0014633	UMLS:C4085238|https://omim.org/entry/616421	
HGNC:6169	biolink:NamedThing	ITIH4			mondo.json		http://identifiers.org/hgnc/6169		
MONDO:0014632	biolink:Disease	hypomyelinating leukodystrophy 10	Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene.	DOID:0060788|OMIM:616420|UMLS:C4225332	mondo.json	hypomyelinating leukodystrophy type 10|HLD10|leukodystrophy, hypomyelinating, type 10|leukodystrophy caused by mutation in PYCR2|leukodystrophy, hypomyelinating, 10|PYCR2 leukodystrophy	http://purl.obolibrary.org/obo/MONDO_0014632	UMLS:C4225332|https://omim.org/entry/616420|DOID:0060788	
MONDO:0014631	biolink:Disease	hypomagnesemia, seizures, and intellectual disability		OMIMPS:616418|UMLS:C4225333	mondo.json	hypomagnesemia, seizures, and mental retardation|HOMGSMR|hypomagnesemia, seizures, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0014631	UMLS:C4225333|https://omim.org/phenotypicSeries/PS616418	
MONDO:0014630	biolink:Disease	familial adenomatous polyposis 3		OMIM:616415|Orphanet:454840|UMLS:C4225157	mondo.json	NTHL1-related attenuated familial adenomatous polyposis|NTHL1-related AFAP|familial adenomatous polyposis type 3|NTHL1-related attenuated FAP|familial adenomatous polyposis 3|FAP3	http://purl.obolibrary.org/obo/MONDO_0014630	Orphanet:454840|UMLS:C4225157|https://omim.org/entry/616415	ordo_clinical_subtype
MONDO:0014637	biolink:Disease	DOCK2 deficiency		UMLS:C4225328|Orphanet:447737|GARD:0012653|OMIM:616433	mondo.json	IMD40|immunodeficiency type 40|immunodeficiency 40	http://purl.obolibrary.org/obo/MONDO_0014637	UMLS:C4225328|https://omim.org/entry/616433|Orphanet:447737	ordo_disease|gard_rare
MONDO:0014636	biolink:Disease	combined oxidative phosphorylation defect type 25	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene.	OMIM:616430|EFO:0009035|UMLS:C4225329|Orphanet:447954|DOID:0111468	mondo.json	combined oxidative phosphorylation deficiency type 25|COXPD25|combined oxidative phosphorylation deficiency 25|MARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in MARS2	http://purl.obolibrary.org/obo/MONDO_0014636	UMLS:C4225329|https://omim.org/entry/616430|DOID:0111468|Orphanet:447954	ordo_disease
MONDO:0014635	biolink:Disease	microphthalmia, isolated, with coloboma 10	Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene.	UMLS:C4225330|OMIM:616428	mondo.json	microphthalmia, isolated, with coloboma 10|microphthalmia, isolated, with coloboma type 10|RBP4 microphthalmia, isolated, with coloboma|MCOPCB10|microphthalmia, isolated, with coloboma caused by mutation in RBP4	http://purl.obolibrary.org/obo/MONDO_0014635	UMLS:C4225330|https://omim.org/entry/616428	
MONDO:0014634	biolink:Disease	46,XY sex reversal 10		OMIM:616425|UMLS:C4225331|DOID:0111775	mondo.json	46XY sex reversal 10|SRXY10|46,XY Sex reversal type 10|chromosome 17Q24 deletion syndrome|46,XY SEX reversal 10|46,XY sex reversal 10	http://purl.obolibrary.org/obo/MONDO_0014634	UMLS:C4225331|https://omim.org/entry/616425|DOID:0111775	
HGNC:6161	biolink:NamedThing	ITGB6			mondo.json		http://identifiers.org/hgnc/6161		
HP:0008047	biolink:PhenotypicFeature	Abnormality of the vasculature of the eye		UMLS:C4024752	mondo.json	Abnormality of eye blood vessels	http://purl.obolibrary.org/obo/HP_0008047		
MONDO:0002659	biolink:Disease	uveal cancer	A primary or metastatic malignant neoplasm that affects the choroid, ciliary body, or iris.	NCIT:C6105|UMLS:C1334629|DOID:3479|EFO:1001230	mondo.json	malignant neoplasm of uvea|uveal tumor|uvea cancer|malignant neoplasm of the uvea|malignant uvea tumor|malignant uveal tumor|malignant uveal neoplasm|cancer of uvea|malignant tumor of uvea|malignant tumor of the uvea|malignant uvea neoplasm	http://purl.obolibrary.org/obo/MONDO_0002659	UMLS:C1334629|DOID:3479|NCIT:C6105	
MONDO:0002633	biolink:Disease	cranial nerve neoplasm	Abnormal growth of the cells that comprise the cranial nerves.	UMLS:C0010267|SCTID:126966009|DOID:338|NCIT:C2963|ICD9:239.7|MESH:D003390	mondo.json	cranial nerve neoplasm|tumor of cranial nerve|neoplasm of the cranial nerve|cranial nerve neoplasms|neoplasm of cranial nerve|cranial nerve tumor|cranial nerve neoplasm (disease)|tumor of the cranial nerve	http://purl.obolibrary.org/obo/MONDO_0002633	http://identifiers.org/mesh/D003390|http://identifiers.org/snomedct/126966009|NCIT:C2963|DOID:338|UMLS:C0010267	
MONDO:0002634	biolink:Disease	liposarcoma of bone	A very rare malignant adipose tissue neoplasm that arises from the bone.	DOID:3381|UMLS:C1332581|NCIT:C7598	mondo.json	bone liposarcoma|bone tissue liposarcoma|liposarcoma of the bone|liposarcoma of bone|liposarcoma of bone tissue	http://purl.obolibrary.org/obo/MONDO_0002634	UMLS:C1332581|DOID:3381|NCIT:C7598	
MONDO:0002635	biolink:Disease	periodontal disorder	An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support.	ICD9:523.8|MESH:D010510|SCTID:2556008|DOID:3388|UMLS:C0031090|NCIT:C63743	mondo.json	periodontal disease|periodontium disease or disorder|disease of supporting structures of teeth|disorder of periodontium|periodontal disorder|periodontium disorder|disease of periodontium|disease or disorder of periodontium|periodontium disease	http://purl.obolibrary.org/obo/MONDO_0002635	http://identifiers.org/mesh/D010510|UMLS:C0031090|http://identifiers.org/snomedct/2556008|NCIT:C63743|DOID:3388	
MONDO:0002636	biolink:Disease	accessory nerve disorder	A disease involving the accessory XI nerve.	NCIT:C26953|UMLS:C0152180|SCTID:84759007|DOID:339|ICD9:352.4|MESH:D020436	mondo.json	accessory nerve disorder|disease of accessory XI nerve|disease or disorder of accessory XI nerve|disorder of accessory [11th] nerve|accessory XI nerve disease|eleventh nerve disorder|accessory XI nerve disease or disorder|disorder of accessory nerve|disorder of accessory XI nerve|disorder of the 11th nerve|disorder of 11th nerve	http://purl.obolibrary.org/obo/MONDO_0002636	NCIT:C26953|http://identifiers.org/mesh/D020436|UMLS:C0152180|http://identifiers.org/snomedct/84759007|DOID:339	
MONDO:0002630	biolink:Disease	small cell osteogenic sarcoma	An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of small cells and osteoid production. The prognosis is usually unfavorable.	NCIT:C4023|UMLS:C0279622|ONCOTREE:SCOS|DOID:3377|ICDO:9185/3	mondo.json	small cell osteosarcoma|round cell osteosarcoma|SCOS	http://purl.obolibrary.org/obo/MONDO_0002630	NCIT:C4023|UMLS:C0279622|DOID:3377	
HP:0011675	biolink:PhenotypicFeature	Arrhythmia	Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.	SNOMEDCT_US:698247007|SNOMEDCT_US:102594003|UMLS:C0264886|UMLS:C0003811|MSH:D001145|UMLS:C1832603|UMLS:C0855329|UMLS:C1842820|SNOMEDCT_US:44808001|MSH:C562490|UMLS:C0522055	mondo.json	Cardiac arrhythmia|Irregular heart beat|Arrhythmias|Cardiac arrhythmias|Cardiac rhythm disturbances|Heart rhythm disorders|Abnormal heart rate|Irregular heartbeat	http://purl.obolibrary.org/obo/HP_0011675		
MONDO:0002631	biolink:Disease	conventional osteosarcoma	A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis.	ICDO:9195/3|NCIT:C35870|DOID:3378|DOID:7602|UMLS:C1266166|ICDO:9186/3	mondo.json	intracortical osteosarcoma (morphologic abnormality)|conventional osteosarcoma|medullary osteosarcoma|intracortical osteogenic sarcoma|conventional central osteosarcoma|intracortical osteosarcoma|central osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0002631	DOID:7602|UMLS:C1266166|NCIT:C35870	
MONDO:0002632	biolink:Disease	metachronous osteosarcoma of the bone	A bone osteosarcoma that has metastasized to skeletal or extraskeletal sites.	UMLS:C1334704|NCIT:C38157|DOID:3379	mondo.json	metachronous osteosarcoma|metachronous osteosarcoma of the bone	http://purl.obolibrary.org/obo/MONDO_0002632	NCIT:C38157|UMLS:C1334704|DOID:3379	
HGNC:6171	biolink:NamedThing	ITK			mondo.json		http://identifiers.org/hgnc/6171		
MONDO:0014619	biolink:Disease	trichothiodystrophy 3, photosensitive		OMIM:616395|UMLS:C4017171	mondo.json	TTD3|trichothiodystrophy, complementation group A|trichothiodystrophy 3, photosensitive	http://purl.obolibrary.org/obo/MONDO_0014619	https://omim.org/entry/616395|UMLS:C4017171	
MONDO:0014618	biolink:Disease	retinitis pigmentosa 71	Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene.	UMLS:C4225342|DOID:0110363|ICD10CM:H35.5|OMIM:616394	mondo.json	IFT172 retinitis pigmentosa|RP71|retinitis pigmentosa caused by mutation in IFT172|retinitis pigmentosa 71|retinitis pigmentosa type 71	http://purl.obolibrary.org/obo/MONDO_0014618	https://omim.org/entry/616394|DOID:0110363|UMLS:C4225342	
MONDO:0014617	biolink:Disease	intellectual disability, autosomal dominant 38	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene.	UMLS:C4225343|OMIM:616393|DOID:0070068	mondo.json	autosomal dominant mental retardation 38|EEF1A2 autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant type 38|mental retardation, autosomal dominant type 38|autosomal dominant non-syndromic intellectual disability caused by mutation in EEF1A2|psychomotor retardation, epilepsy, and language disability syndrome|PRELDS|intellectual disability, autosomal dominant 38|autosomal dominant intellectual disability 38|mental retardation, autosomal dominant 38|autosomal dominant non-syndromic intellectual disability 38|MRD38	http://purl.obolibrary.org/obo/MONDO_0014617	DOID:0070068|https://omim.org/entry/616393|UMLS:C4225343	
MONDO:0014616	biolink:Disease	obsolete Skint1-like pseudogene		OMIM:616392	mondo.json	Skintp|SKINT1-like pseudogene|Skint1-like pseudogene|Skint1L|SKINTL	http://purl.obolibrary.org/obo/MONDO_0014616	https://omim.org/entry/616392	
MONDO:0014622	biolink:Disease	isolated focal non-epidermolytic palmoplantar keratoderma		Orphanet:448264|UMLS:C4225339|OMIM:616400	mondo.json	FNEPPK2|palmoplantar keratoderma, nonepidermolytic, focal 2|palmoplantar keratoderma, nonepidermolytic, focal type 2	http://purl.obolibrary.org/obo/MONDO_0014622	Orphanet:448264|https://omim.org/entry/616400|UMLS:C4225339	ordo_disease
UBERON:0035416	biolink:AnatomicalEntity	diaphragma sellae			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035416		
MONDO:0014621	biolink:Disease	Brugada syndrome 9	Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene.	UMLS:C4225340|DOID:0110226|OMIM:616399	mondo.json	BRGDA9|Brugada syndrome caused by mutation in KCND3|Brugada syndrome type 9|KCND3 Brugada syndrome|Brugada syndrome 9	http://purl.obolibrary.org/obo/MONDO_0014621	UMLS:C4225340|https://omim.org/entry/616399|DOID:0110226	
MONDO:0014620	biolink:Disease	myoclonic dystonia 26	Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene.	DOID:0090036|OMIM:616398|UMLS:C4225341	mondo.json	myoclonus-dystonia syndrome caused by mutation in KCTD17|DYT26|dystonia 26, myoclonic|myoclonic dystonia type 26|KCTD17 myoclonus-dystonia syndrome	http://purl.obolibrary.org/obo/MONDO_0014620	https://omim.org/entry/616398|UMLS:C4225341|DOID:0090036	
MONDO:0014626	biolink:Disease	spinocerebellar ataxia type 41	Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.	DOID:0111744|Orphanet:458798|OMIM:616410|EFO:0009058|UMLS:C4225158	mondo.json	spinocerebellar ataxia 41|spinocerebellar ataxia type 41|SCA41	http://purl.obolibrary.org/obo/MONDO_0014626	Orphanet:458798|UMLS:C4225158|https://omim.org/entry/616410|DOID:0111744	ordo_disease
MONDO:0014625	biolink:Disease	developmental and epileptic encephalopathy, 33	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene.	OMIM:616409|UMLS:C4225337|DOID:0080463	mondo.json	early infantile epileptic encephalopathy caused by mutation in EEF1A2|EIEE33|epileptic encephalopathy, early infantile, 33|developmental and epileptic encephalopathy 33|epileptic encephalopathy, early infantile, type 33|EEF1A2 early infantile epileptic encephalopathy|DEE33	http://purl.obolibrary.org/obo/MONDO_0014625	DOID:0080463|UMLS:C4225337|https://omim.org/entry/616409	
MONDO:0014624	biolink:Disease	Brown syndrome	Brown syndrome is a rare eye disorder characterized by defects in eye movements caused by abnormalities of the superior oblique tendon sheath of the superior oblique muscle.	DOID:10235|SCTID:35929003|UMLS:C0155339|ICD9:378.61|OMIM:616407|GARD:0005963	mondo.json	tendon sheath adherence, Superior oblique|Brown's (tendon) sheath syndrome|BRWNS|superior oblique tendon sheath syndrome|Brown's tendon sheath syndrome|Brown syndrome|Brown's sheath syndrome|Brown tendon sheath syndrome	http://purl.obolibrary.org/obo/MONDO_0014624	DOID:10235|https://omim.org/entry/616407|http://identifiers.org/snomedct/35929003|UMLS:C0155339	
MONDO:0014623	biolink:Disease	microcephaly 14, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene.	UMLS:C4225338|DOID:0070279|OMIM:616402	mondo.json	microcephaly 14, primary, autosomal recessive|MCPH14|SASS6 autosomal recessive primary microcephaly|autosomal recessive primary microcephaly caused by mutation in SASS6	http://purl.obolibrary.org/obo/MONDO_0014623	DOID:0070279|UMLS:C4225338|https://omim.org/entry/616402	
HGNC:6172	biolink:NamedThing	STT3A			mondo.json		http://identifiers.org/hgnc/6172		
HGNC:6174	biolink:NamedThing	ITM2B			mondo.json		http://identifiers.org/hgnc/6174		
MONDO:0002626	biolink:Disease	spinal accessory nerve neoplasm	A neoplasm involving a accessory XI nerve spinal component.	DOID:337|ICD9:239.7|SCTID:126977003|NCIT:C5829|UMLS:C1263902	mondo.json	tumor of eleventh cranial nerve|spinal accessory nerve neoplasm|tumor of the eleventh cranial nerve|eleventh cranial nerve tumors|neoplasm of accessory nerve|tumor of accessory XI nerve spinal component|spinal accessory nerve tumors|accessory nerve neoplasm|XIth cranial nerve tumors|neoplasm of spinal accessory nerve|spinal accessory nerve tumor|neoplasm of the spinal accessory nerve|neoplasm of eleventh cranial nerve|accessory XI nerve spinal component neoplasm|eleventh cranial nerve tumor|neoplasm of the eleventh cranial nerve|spinal accessory nerve neoplasms|neoplasm of accessory XI nerve spinal component|accessory XI nerve spinal component tumor|XIth cranial nerve neoplasms|eleventh cranial nerve neoplasms|tumor of spinal accessory nerve|accessory XI nerve spinal component neoplasm (disease)|tumor of the spinal accessory nerve|eleventh cranial nerve neoplasm	http://purl.obolibrary.org/obo/MONDO_0002626	UMLS:C1263902|NCIT:C5829|DOID:337|http://identifiers.org/snomedct/126977003	
HGNC:6176	biolink:NamedThing	ITPA			mondo.json		http://identifiers.org/hgnc/6176		
MONDO:0002627	biolink:Disease	chondroblastic osteosarcoma	An osteosarcoma characterised by the presence of atypical cartilage of variable cellularity. It may or may not be associated with the presence of myxoid areas or focal bone formation.	NCIT:C4021|UMLS:C0279603|DOID:3372|ICDO:9181/3|ONCOTREE:CHOS	mondo.json	chondroblastic osteogenic sarcoma|chondroblastic osteosarcoma (morphologic abnormality)|chondrosarcomatous osteogenic sarcoma|CHOS|chondroblastic osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0002627	DOID:3372|NCIT:C4021|UMLS:C0279603	
MONDO:0002628	biolink:Disease	peripheral osteosarcoma	A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.	NCIT:C7134|UMLS:C1332591|DOID:3374	mondo.json	peripheral osteosarcoma|surface osteosarcoma|bone surface (peripheral) osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0002628	NCIT:C7134|DOID:3374|UMLS:C1332591	
MONDO:0002629	biolink:Disease	bone osteosarcoma	A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs.	ICD9:170.9|DOID:3376|OMIM:259500|MedDRA:10031291|SCTID:307576001|Orphanet:668|GARD:0007284|NCIT:C53707|MESH:D012516	mondo.json	osteosarcoma, somatic|osteosarcoma, somatic mutation|primary osteosarcoma of bone|osteosarcoma of bone|bone osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0002629	http://identifiers.org/mesh/D012516|Orphanet:668|DOID:3376|http://identifiers.org/snomedct/307576001|https://omim.org/entry/259500|NCIT:C53707	ordo_disease
MONDO:0002644	biolink:Disease	idiopathic granulomatous myositis		NCIT:C27575|DOID:3428|Orphanet:206979|UMLS:C1334150	mondo.json	idiopathic granulomatous myositis|granulomatous myositis	http://purl.obolibrary.org/obo/MONDO_0002644	UMLS:C1334150|DOID:3428|NCIT:C27575	
MONDO:0002645	biolink:Disease	cerebritis	Inflammation of the cerebrum.	UMLS:C0742115|NCIT:C27199|DOID:3431	mondo.json	cerebral hemisphere inflammation|inflammation of cerebral hemisphere	http://purl.obolibrary.org/obo/MONDO_0002645	UMLS:C0742115|DOID:3431|NCIT:C27199	
MONDO:0002646	biolink:Disease	viral laryngitis	Acute inflammation of the larynx caused by viruses, including rhinovirus, influenza virus, parainfluenza virus, and adenovirus.	DOID:3436|SCTID:441551009|UMLS:C0853195|ICD9:464.00|NCIT:C27305	mondo.json	Viruses caused laryngitis|Viruses laryngitis	http://purl.obolibrary.org/obo/MONDO_0002646	http://identifiers.org/snomedct/441551009|UMLS:C0853195|DOID:3436|NCIT:C27305	
MONDO:0002647	biolink:Disease	laryngitis	An acute or chronic, bacterial or viral inflammatory process affecting the larynx. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness.	UMLS:C0023067|DOID:3437|MESH:D007827|NCIT:C26811|ICD9:464.00|SCTID:45913009	mondo.json	laryngeal Inflammation|laryngeal inflammation|larynx inflammation|inflammation of larynx	http://purl.obolibrary.org/obo/MONDO_0002647	NCIT:C26811|http://identifiers.org/snomedct/45913009|DOID:3437|UMLS:C0023067|http://identifiers.org/mesh/D007827	
MONDO:0002640	biolink:Disease	optic nerve neoplasm	Benign and malignant neoplasms which arise from or metastasize to the optic or second cranial nerve which extends from the optic disc of the eye and joins the optic chiasm. Clinical features may include visual loss, proptosis, and local pain. The majority of optic nerve tumors or optic gliomas.	MESH:D019574|DOID:3419|NCIT:C4801|UMLS:C0524802|SCTID:395505000|ICD9:239.7|EFO:1001073	mondo.json	tumor of cranial nerve II|optic nerve neoplasms|second cranial nerve neoplasms|second cranial nerve neoplasm|optic nerve neoplasm|tumor of the optic nerve|tumour of optic nerve|tumor of optic nerve|cranial nerve II neoplasm (disease)|tumor of the second cranial nerve|neoplasm of cranial nerve II|cranial nerve II tumor|cranial nerve II neoplasms|neoplasm of the optic nerve|neoplasms, optic nerve|neoplasm of optic nerve|neoplasms, second cranial nerve|optic nerve tumor|neoplasm of second cranial nerve|second cranial nerve tumor|cranial nerve II neoplasm|tumor of second cranial nerve|neoplasm of the second cranial nerve	http://purl.obolibrary.org/obo/MONDO_0002640	http://identifiers.org/snomedct/395505000|NCIT:C4801|UMLS:C0524802|DOID:3419|http://identifiers.org/mesh/D019574	
MONDO:0002641	biolink:Disease	subclavian artery aneurysm	A subclavian aneurysm is weakness or bulging in the wall of the subclavian artery, which is located below the collarbone. If the aneurysm ruptures, it can cause life-threatening, uncontrolled bleeding. Blood clots caused by the aneurysm can potentially lead to stroke or loss of fingers, the hand or, in rare cases, the entire arm.	DOID:342|UMLS:C0155746|ICD9:442.82|SCTID:40136003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002641	http://identifiers.org/snomedct/40136003|DOID:342|UMLS:C0155746	
HGNC:6180	biolink:NamedThing	ITPR1			mondo.json		http://identifiers.org/hgnc/6180		
MONDO:0002642	biolink:Disease	trochlear nerve neoplasm	A neoplasm involving a trochlear nerve.	SCTID:126970001|DOID:3421|UMLS:C1263896|NCIT:C5825|ICD9:239.7	mondo.json	trochlear nerve neoplasms|tumor of trochlear nerve|tumor of fourth cranial nerve|tumor of the fourth cranial nerve|tumor of the trochlear nerve|trochlear nerve neoplasm (disease)|IVth cranial nerve tumors|IVth cranial nerve neoplasms|neoplasm of fourth cranial nerve|neoplasm of the trochlear nerve|fourth cranial nerve neoplasm|neoplasm of the fourth cranial nerve|fourth cranial nerve tumor|trochlear nerve tumors|neoplasm of trochlear nerve|trochlear nerve tumor|fourth cranial nerve neoplasms|fourth cranial nerve tumors	http://purl.obolibrary.org/obo/MONDO_0002642	NCIT:C5825|http://identifiers.org/snomedct/126970001|DOID:3421|UMLS:C1263896	
HGNC:6181	biolink:NamedThing	ITPR2			mondo.json		http://identifiers.org/hgnc/6181		
MONDO:0002643	biolink:Disease	vestibular disorder	Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls.	DOID:3426|MESH:D015837|UMLS:C0042594	mondo.json	vestibular labyrinth disease or disorder|disease of vestibular system|vertigo, vestibular disorder|disorder of vestibular labyrinth|disease or disorder of vestibular labyrinth|vestibular system disease|disorder of vestibular system|disease of vestibular labyrinth|vestibular labyrinth disease	http://purl.obolibrary.org/obo/MONDO_0002643	http://identifiers.org/mesh/D015837|UMLS:C0042594|DOID:3426	
HGNC:6182	biolink:NamedThing	ITPR3			mondo.json		http://identifiers.org/hgnc/6182		
MONDO:0014608	biolink:Disease	mandibulofacial dysostosis with alopecia	A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.	Orphanet:443995|DOID:0060365|OMIM:616367|UMLS:C4225349	mondo.json	mandibulofacial dysostosis with alopecia|MFDA	http://purl.obolibrary.org/obo/MONDO_0014608	UMLS:C4225349|https://omim.org/entry/616367|DOID:0060365|Orphanet:443995	ordo_malformation_syndrome
MONDO:0014607	biolink:Disease	developmental and epileptic encephalopathy, 32	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene.	OMIM:616366|UMLS:C4225350|DOID:0080416	mondo.json	early infantile epileptic encephalopathy caused by mutation in KCNA2|epileptic encephalopathy, early infantile, 32|epileptic encephalopathy, early infantile, type 32|EIEE32|developmental and epileptic encephalopathy 32|KCNA2 early infantile epileptic encephalopathy|DEE32	http://purl.obolibrary.org/obo/MONDO_0014607	https://omim.org/entry/616366|UMLS:C4225350|DOID:0080416	clingen
MONDO:0014606	biolink:Disease	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).	Orphanet:468678|DOID:0070067|EFO:0009079|OMIM:616364	mondo.json	WHSUS|intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|autosomal dominant mental retardation 37|intellectual disability, autosomal dominant 37|mental retardation, autosomal dominant type 37|WHITE-Sutton syndrome|White-Sutton syndrome|intellectual disability, autosomal dominant type 37|mental retardation, autosomal dominant 37|autosomal dominant intellectual disability 37|MRD37	http://purl.obolibrary.org/obo/MONDO_0014606	https://omim.org/entry/616364|DOID:0070067|Orphanet:468678	ordo_disease
MONDO:0014605	biolink:Disease	microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome		DOID:0070066|OMIM:616362|Orphanet:457284	mondo.json	MRD36|intellectual disability, autosomal dominant 36|autosomal dominant mental retardation 36|mental retardation, autosomal dominant type 36|intellectual disability, autosomal dominant type 36|autosomal dominant intellectual disability 36|mental retardation, autosomal dominant 36|autosomal dominant non-syndromic intellectual disability 36	http://purl.obolibrary.org/obo/MONDO_0014605	https://omim.org/entry/616362|Orphanet:457284|DOID:0070066	ordo_malformation_syndrome
UBERON:0035431	biolink:AnatomicalEntity	mediastinal pleura			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035431		
CHEBI:16827	biolink:ChemicalSubstance	corticosterone	A 21-hydroxy steroid that consists of pregn-4-ene substituted by hydroxy groups at positions 11 and 21 and oxo groups at positions 3 and 20. Corticosterone is a 21-carbon steroid hormone of the corticosteroid type produced in the cortex of the adrenal glands.		mondo.json	11beta,21-Dihydroxy-4-pregnene-3,20-dione|11beta,21-dihydroxyprogesterone|11beta,21-dihydroxypregn-4-ene-3,20-dione|corticosterone|(11beta)-11,21-dihydroxypregn-4-ene-3,20-dione|CORTICOSTERONE|Corticosterone|Reichstein's substance H|Kendall's compound B|17-deoxycortisol	http://purl.obolibrary.org/obo/CHEBI_16827		
MONDO:0014609	biolink:Disease	cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome		OMIM:616368|Orphanet:444077|UMLS:C4085597|GARD:0012845|EFO:0009031|SCTID:764455002	mondo.json	CHOPS|CHOPS syndrome|cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia	http://purl.obolibrary.org/obo/MONDO_0014609	https://omim.org/entry/616368|UMLS:C4085597|http://identifiers.org/snomedct/764455002|Orphanet:444077	ordo_malformation_syndrome
UBERON:0035435	biolink:AnatomicalEntity	right suprarenal vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035435		
MONDO:0014611	biolink:Disease	multiple mitochondrial dysfunctions syndrome 4	Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene.	OMIM:616370|DOID:0080136|Orphanet:457406|UMLS:C4225348	mondo.json	multiple mitochondrial dysfunctions syndrome 4|multiple mitochondrial dysfunctions syndrome type 4|MMDS4|ISCA2 fatal multiple mitochondrial dysfunctions syndrome|fatal multiple mitochondrial dysfunctions syndrome caused by mutation in ISCA2	http://purl.obolibrary.org/obo/MONDO_0014611	Orphanet:457406|DOID:0080136|UMLS:C4225348|https://omim.org/entry/616370	ordo_disease
CHR:9606-chr8p11.2	biolink:NamedThing	8p11.2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr8p11.2		
MONDO:0014610	biolink:Disease	obsolete ciliary dyskinesia, primary, 31			mondo.json	moved to 243605	http://purl.obolibrary.org/obo/MONDO_0014610		
MONDO:0014615	biolink:Disease	trichothiodystrophy 2, photosensitive		UMLS:C4225344|OMIM:616390	mondo.json	TTD2|trichothiodystrophy 2, photosensitive	http://purl.obolibrary.org/obo/MONDO_0014615	https://omim.org/entry/616390|UMLS:C4225344	
MONDO:0014614	biolink:Disease	congenital stationary night blindness 1G	A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21.	OMIM:616389|DOID:0110714|UMLS:C4225345	mondo.json	night blindness, congenital stationary, type 1G|congenital stationary night blindness type 1G|CSNB1G	http://purl.obolibrary.org/obo/MONDO_0014614	DOID:0110714|UMLS:C4225345|https://omim.org/entry/616389	
MONDO:0014613	biolink:Disease	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene.	OMIM:616373|UMLS:C4225346	mondo.json	pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 3|RTEL1 pulmonary fibrosis and/or bone marrow failure, Telomere-related|PFBMFT3|pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in RTEL1|pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 3|pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	http://purl.obolibrary.org/obo/MONDO_0014613	https://omim.org/entry/616373|UMLS:C4225346	
MONDO:0014612	biolink:Disease	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the PARN gene.	OMIM:616371|UMLS:C4225347	mondo.json	PARN pulmonary fibrosis and/or bone marrow failure, Telomere-related|pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in PARN|pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 4|pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|PFBMFT4|pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 4	http://purl.obolibrary.org/obo/MONDO_0014612	UMLS:C4225347|https://omim.org/entry/616371	
HGNC:6186	biolink:NamedThing	IVD			mondo.json		http://identifiers.org/hgnc/6186		
MONDO:0002637	biolink:Disease	histiocytosis	A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes.	NCIT:C3106|DOID:3405|ONCOTREE:HDCN|UMLS:C0019618|MESH:D015614	mondo.json	histiocytic and dendritic cell neoplasms|chronic histiocytosis X|hand Schuller Christian disease|histiocytic syndrome|histiocytic infiltrate	http://purl.obolibrary.org/obo/MONDO_0002637	UMLS:C0019618|NCIT:C3106|http://identifiers.org/mesh/D015614|DOID:3405	
MONDO:0002638	biolink:Disease	glossopharyngeal nerve neoplasm	A neoplasm involving a glossopharyngeal nerve.	NCIT:C5828|ICD9:239.7|UMLS:C1263900|DOID:3417|SCTID:126975006	mondo.json	tumor of the glossopharyngeal nerve|Ninth cranial nerve tumors|glossopharyngeal nerve neoplasm (disease)|neoplasm of the Ninth cranial nerve|tumor of glossopharyngeal nerve|neoplasm of Ninth cranial nerve|Ninth cranial nerve tumor|Ninth cranial nerve neoplasms|neoplasm of the glossopharyngeal nerve|tumor of the Ninth cranial nerve|glossopharyngeal nerve neoplasms|IXth cranial nerve neoplasms|glossopharyngeal nerve neoplasm|tumor of Ninth cranial nerve|IXth cranial nerve tumors|neoplasm of glossopharyngeal nerve|glossopharyngeal nerve tumor|glossopharyngeal nerve tumors|Ninth cranial nerve neoplasm	http://purl.obolibrary.org/obo/MONDO_0002638	DOID:3417|http://identifiers.org/snomedct/126975006|UMLS:C1263900|NCIT:C5828	
HGNC:6188	biolink:NamedThing	JAG1			mondo.json		http://identifiers.org/hgnc/6188		
MONDO:0002639	biolink:Disease	glossopharyngeal nerve disorder	A disease involving the glossopharyngeal nerve.	NCIT:C27211|ICD9:352|DOID:3418|UMLS:C0751941|SCTID:80962007|ICD9:352.2	mondo.json	ninth nerve disorder|disorder of glossopharyngeal nerve|disease of glossopharyngeal nerve|glossopharyngeal nerve disorder|disease or disorder of glossopharyngeal nerve|glossopharyngeal nerve disease|IX nerve disorder|glossopharyngeal nerve disease or disorder	http://purl.obolibrary.org/obo/MONDO_0002639	DOID:3418|UMLS:C0751941|NCIT:C27211|http://identifiers.org/snomedct/80962007	
GO:0000323	biolink:NamedThing	lytic vacuole	A vacuole that is maintained at an acidic pH and which contains degradative enzymes, including a wide variety of acid hydrolases.		mondo.json		http://purl.obolibrary.org/obo/GO_0000323		
GO:0097237	biolink:NamedThing	cellular response to toxic substance	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0097237		
GO:1903489	biolink:NamedThing	positive regulation of lactation	Any process that activates or increases the frequency, rate or extent of lactation.		mondo.json	upregulation of lactation|up-regulation of lactation|up regulation of lactation|activation of lactation	http://purl.obolibrary.org/obo/GO_1903489		
GO:1903488	biolink:NamedThing	negative regulation of lactation	Any process that stops, prevents or reduces the frequency, rate or extent of lactation.		mondo.json	down-regulation of lactation|down regulation of lactation|inhibition of lactation|downregulation of lactation	http://purl.obolibrary.org/obo/GO_1903488		
GO:1903487	biolink:NamedThing	regulation of lactation	Any process that modulates the frequency, rate or extent of lactation.		mondo.json		http://purl.obolibrary.org/obo/GO_1903487		
GO:0000313	biolink:NamedThing	organellar ribosome	A ribosome contained within a subcellular membrane-bounded organelle.		mondo.json		http://purl.obolibrary.org/obo/GO_0000313		
HGNC:8724	biolink:NamedThing	PCK1			mondo.json		http://identifiers.org/hgnc/8724		
HGNC:8725	biolink:NamedThing	PCK2			mondo.json		http://identifiers.org/hgnc/8725		
HGNC:8727	biolink:NamedThing	PCM1			mondo.json		http://identifiers.org/hgnc/8727		
CHEBI:38234	biolink:ChemicalSubstance	DNA polymerase inhibitor	Any inhibitor of a DNA polymerase.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_38234		
HGNC:8729	biolink:NamedThing	PCNA			mondo.json		http://identifiers.org/hgnc/8729		
CHR:9606-chr1p35.2	biolink:NamedThing	1p35.2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr1p35.2		
HGNC:8743	biolink:NamedThing	PCSK1			mondo.json		http://identifiers.org/hgnc/8743		
HP:0011603	biolink:PhenotypicFeature	Congenital malformation of the great arteries	Defect or defects of the morphogenesis of the aorta and pulmonary arteries.	UMLS:C0478012	mondo.json		http://purl.obolibrary.org/obo/HP_0011603		
HGNC:8740	biolink:NamedThing	CHMP1A			mondo.json		http://identifiers.org/hgnc/8740		
CHEBI:28868	biolink:ChemicalSubstance	fatty acid anion	The conjugate base of a fatty acid, arising from deprotonation of the carboxylic acid group of the corresponding fatty acid.		mondo.json	Fatty acid anion|a fatty acid|Fettsaeureanion|anion de l'acide gras|fatty acid anions|acidos grasos anionicos|acido graso anionico|Alkanate|Fettsaeureanionen	http://purl.obolibrary.org/obo/CHEBI_28868		
GO:0002920	biolink:NamedThing	regulation of humoral immune response	Any process that modulates the frequency, rate, or extent of a humoral immune response.		mondo.json		http://purl.obolibrary.org/obo/GO_0002920		
GO:0002921	biolink:NamedThing	negative regulation of humoral immune response	Any process that stops, prevents, or reduces the frequency, rate, or extent of a humoral immune response.		mondo.json	inhibition of humoral immune response|downregulation of humoral immune response|down-regulation of humoral immune response|down regulation of humoral immune response	http://purl.obolibrary.org/obo/GO_0002921		
HGNC:8754	biolink:NamedThing	PCYT1A			mondo.json		http://identifiers.org/hgnc/8754		
GO:0002922	biolink:NamedThing	positive regulation of humoral immune response	Any process that activates or increases the frequency, rate, or extent of a humoral immune response.		mondo.json	up-regulation of humoral immune response|up regulation of humoral immune response|activation of humoral immune response|stimulation of humoral immune response|upregulation of humoral immune response	http://purl.obolibrary.org/obo/GO_0002922		
CHEBI:26214	biolink:ChemicalSubstance	porphyrins	Natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure.		mondo.json	porphyrins	http://purl.obolibrary.org/obo/CHEBI_26214		
HGNC:8768	biolink:NamedThing	AIFM1			mondo.json		http://identifiers.org/hgnc/8768		
HGNC:6106	biolink:NamedThing	FOXP3			mondo.json		http://identifiers.org/hgnc/6106		
HGNC:6107	biolink:NamedThing	PDX1			mondo.json		http://identifiers.org/hgnc/6107		
HGNC:6109	biolink:NamedThing	IPW			mondo.json		http://identifiers.org/hgnc/6109		
HGNC:8761	biolink:NamedThing	PDCD10			mondo.json		http://identifiers.org/hgnc/8761		
ENVO:01001524	biolink:NamedThing	frozen land	Land which is below the freezing point of water.		mondo.json	frozen ground	http://purl.obolibrary.org/obo/ENVO_01001524		
ENVO:01001526	biolink:NamedThing	frozen soil	Soil which is below the freezing point of water.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001526		
GO:0000280	biolink:NamedThing	nuclear division	The division of a cell nucleus into two nuclei, with DNA and other nuclear contents distributed between the daughter nuclei.		mondo.json	karyokinesis	http://purl.obolibrary.org/obo/GO_0000280		
GO:0051885	biolink:NamedThing	positive regulation of timing of anagen	Any process that activates or increases the frequency, rate or extent of timing of anagen, the growth phase of the hair cycle.		mondo.json	upregulation of anagen|stimulation of anagen|positive regulation of anagen|activation of anagen|up regulation of anagen|up-regulation of anagen	http://purl.obolibrary.org/obo/GO_0051885		
GO:0051886	biolink:NamedThing	negative regulation of timing of anagen	Any process that stops, prevents, or reduces the frequency, rate or extent of timing of anagen, the growth phase of the hair cycle.		mondo.json	downregulation of anagen|inhibition of anagen|down regulation of anagen|negative regulation of anagen|down-regulation of anagen	http://purl.obolibrary.org/obo/GO_0051886		
GO:0048232	biolink:NamedThing	male gamete generation	Generation of the male gamete; specialised haploid cells produced by meiosis and along with a female gamete takes part in sexual reproduction.		mondo.json		http://purl.obolibrary.org/obo/GO_0048232		
GO:0051884	biolink:NamedThing	regulation of timing of anagen	Any process that modulates the frequency, rate or extent of timing of anagen, the growth phase of the hair cycle.		mondo.json	regulation of anagen	http://purl.obolibrary.org/obo/GO_0051884		
MONDO:0012090	biolink:Disease	autosomal dominant nonsyndromic hearing loss 47	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 9p22-p21.	OMIM:608652|UMLS:C1837609|DOID:0110570|MESH:C563885	mondo.json	DFNA47|autosomal dominant nonsyndromic deafness 47|autosomal dominant nonsyndromic deafness type 47|autosomal dominant deafness 47|deafness, autosomal dominant 47	http://purl.obolibrary.org/obo/MONDO_0012090	DOID:0110570|UMLS:C1837609|http://identifiers.org/mesh/C563885|https://omim.org/entry/608652	
ENVO:01001510	biolink:NamedThing	material congelation process	A material transformation process during which a material's viscosity increase either through a reduction in temperature, through chemical reactions, or other physical effects.		mondo.json	congelation|congelation process	http://purl.obolibrary.org/obo/ENVO_01001510		
MONDO:0012091	biolink:Disease	autosomal recessive nonsyndromic hearing loss 32	An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in variation in the chromosome region 1p22.1-p13.3.	DOID:0110491|MESH:C563884|UMLS:C4310777|OMIM:608653|DOID:0110466|UMLS:C1837608	mondo.json	autosomal recessive nonsyndromic deafness 105|deafness, autosomal recessive 32, with or without immotile sperm|autosomal recessive deafness 32|autosomal recessive nonsyndromic deafness type 32|autosomal recessive nonsyndromic deafness caused by mutation in CDC14A|DFNB32|autosomal recessive nonsyndromic deafness 32|autosomal recessive deafness 105|autosomal recessive nonsyndromic deafness type 105|CDC14A autosomal recessive nonsyndromic deafness|DFNB105|deafness, autosomal recessive type 105|deafness, autosomal recessive 105|deafness, autosomal recessive 32	http://purl.obolibrary.org/obo/MONDO_0012091	DOID:0110491|UMLS:C1837608|http://identifiers.org/mesh/C563884|https://omim.org/entry/608653	
MONDO:0012094	biolink:Disease	prostate cancer, hereditary, 4		MESH:C563882|UMLS:C1837593|OMIM:608658	mondo.json	HPC4|prostate cancer, hereditary, type 4|prostate cancer, hereditary, on chromosome 7|prostate cancer, susceptibility to, 4|prostate cancer, hereditary, 4	http://purl.obolibrary.org/obo/MONDO_0012094	UMLS:C1837593|http://identifiers.org/mesh/C563882|https://omim.org/entry/608658	
MONDO:0012095	biolink:Disease	intellectual disability-brachydactyly-Pierre Robin syndrome	Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.	OMIM:608670|MESH:C563880|UMLS:C1837564|Orphanet:364577	mondo.json	ROBIN sequence with distinctive facial appearance and brachydactyly	http://purl.obolibrary.org/obo/MONDO_0012095	Orphanet:364577|UMLS:C1837564|http://identifiers.org/mesh/C563880|https://omim.org/entry/608670	ordo_malformation_syndrome
MONDO:0012092	biolink:Disease	hereditary sensory and autonomic neuropathy type 5	Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.	PMID:77656|DOID:0070145|Orphanet:64752|OMIM:608654|SCTID:128206006|GARD:12328|PMID:14976160|GARD:0012328	mondo.json	HSAN V|neuropathy, hereditary sensory and autonomic, type V|NGF autosomal recessive hereditary sensory and autonomic neuropathy|HSAN 5|congenital insensitivity to pain and thermal analgesia|insensitivity to pain, congenital|hereditary sensory and autonomic neuropathy type V|HSAN5|autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in NGF|neuropathy, hereditary sensory and autonomic, type 5	http://purl.obolibrary.org/obo/MONDO_0012092	http://identifiers.org/snomedct/128206006|DOID:0070145|Orphanet:64752|https://omim.org/entry/608654	ordo_disease
MONDO:0012093	biolink:Disease	prostate cancer, hereditary, 3		MESH:C563883|OMIM:608656|UMLS:C1837595	mondo.json	prostate cancer, hereditary, type 3|HPC3|prostate cancer, susceptibility to, 3|prostate cancer, hereditary, 3	http://purl.obolibrary.org/obo/MONDO_0012093	UMLS:C1837595|http://identifiers.org/mesh/C563883|https://omim.org/entry/608656	
MONDO:0012098	biolink:Disease	spinocerebellar ataxia type 20	Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation.	SCTID:718771009|UMLS:C1837541|DOID:0050971|Orphanet:101110|OMIM:608687|GARD:0009997|MESH:C537199	mondo.json	spinocerebellar ataxia with dysphonia|chromosome 11q12 duplication syndrome, 260-Kb|SCA20|spinocerebellar ataxia with spasmodic cough|spinocerebellar ataxia 20|spinocerebellar ataxia type 20	http://purl.obolibrary.org/obo/MONDO_0012098	https://omim.org/entry/608687|http://identifiers.org/mesh/C537199|DOID:0050971|http://identifiers.org/snomedct/718771009|UMLS:C1837541|Orphanet:101110	ordo_disease
MONDO:0012099	biolink:Disease	AICA-ribosiduria	AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.	UMLS:C1837530|MESH:C563876|SCTID:725289009|OMIM:608688|UMLS:C4510943|Orphanet:250977	mondo.json	AICAR transformylase/IMP cyclohydrolase deficiency|Aica-Ribosuria due to Atic deficiency|AICA-ribosiduria due to ATIC deficiency|ATIC deficiency|5-amino-4-imidazole carboxamide ribosiduria|Atic deficiency	http://purl.obolibrary.org/obo/MONDO_0012099	https://omim.org/entry/608688|Orphanet:250977|UMLS:C4510943|http://identifiers.org/snomedct/725289009|UMLS:C1837530|http://identifiers.org/mesh/C563876	ordo_disease
MONDO:0012096	biolink:Disease	Charcot-Marie-Tooth disease axonal type 2L	Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.	DOID:0110174|Orphanet:99945|UMLS:C4304673|SCTID:719513008|GARD:0012432|OMIM:608673|UMLS:C1837552	mondo.json	CMT2L|autosomal dominant Charcot-Marie-Tooth disease type 2L|Charcot-Marie-Tooth disease type 2L|autosomal dominant axonal Charcot-Marie-Tooth disease type 2L|Charcot-Marie-Tooth disease, axonal, type 2L|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2L|Charcot-Marie-Tooth neuropathy axonal type 2L|Charcot-Marie-Tooth neuropathy, axonal, type 2L|Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB8|HSPB8 Charcot-Marie-Tooth disease type 2	http://purl.obolibrary.org/obo/MONDO_0012096	Orphanet:99945|UMLS:C4304673|DOID:0110174|UMLS:C1837552|http://identifiers.org/snomedct/719513008|https://omim.org/entry/608673	ordo_disease
MONDO:0012097	biolink:Disease	spondylocostal dysostosis 2, autosomal recessive		UMLS:C1837549|OMIM:608681|GARD:0009703	mondo.json	SCDO2|spondylocostal dysostosis 2|spondylocostal dysostosis 2, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0012097	UMLS:C1837549|https://omim.org/entry/608681	
GO:0048243	biolink:NamedThing	norepinephrine secretion	The regulated release of norepinephrine by a cell. Norepinephrine is a catecholamine and it acts as a hormone and as a neurotransmitter of most of the sympathetic nervous system.		mondo.json	noradrenaline secretion	http://purl.obolibrary.org/obo/GO_0048243		
GO:0048242	biolink:NamedThing	epinephrine secretion	The regulated release of epinephrine by a cell. Epinephrine is a catecholamine hormone secreted by the adrenal medulla and a neurotransmitter, released by certain neurons and active in the central nervous system.		mondo.json	adrenaline secretion	http://purl.obolibrary.org/obo/GO_0048242		
ENVO:01001549	biolink:NamedThing	freezing of water into water ice	A freezing process during which liquid water is transformed into water ice.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001549		
ENVO:01001548	biolink:NamedThing	freezing	A material congelation process during which a liquid turns into a solid when its temperature is lowered below its melting point.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001548		
GO:0048241	biolink:NamedThing	epinephrine transport	The directed movement of epinephrine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	adrenaline transport	http://purl.obolibrary.org/obo/GO_0048241		
MONDO:0000099	biolink:Disease	obsolete trichoepithelioma, multiple familial			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000099		
GO:0048240	biolink:NamedThing	sperm capacitation	A process required for sperm to reach fertilization competence. Sperm undergo an incompletely understood series of morphological and molecular maturational processes, termed capacitation, involving, among other processes, protein tyrosine phosphorylation and increased intracellular calcium.		mondo.json	sperm activation	http://purl.obolibrary.org/obo/GO_0048240		
MONDO:0012080	biolink:Disease	neuronopathy, distal hereditary motor, type 2B	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene.	UMLS:C2608087|DOID:0111207|OMIM:608634|MESH:C567084	mondo.json	HMN 2B|HSPB1 neuronopathy, distal hereditary motor|neuropathy, distal hereditary motor, type 2B|neuronopathy, distal hereditary motor caused by mutation in HSPB1|HMN2B|neuronopathy, distal hereditary motor, type IIB	http://purl.obolibrary.org/obo/MONDO_0012080	http://identifiers.org/mesh/C567084|DOID:0111207|UMLS:C2608087|https://omim.org/entry/608634	
NCBITaxon:241475	biolink:OrganismalEntity	Dioctophymatoidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_241475		
MONDO:0000094	biolink:Disease	obsolete spherocytosis		HP:0004444	mondo.json	obsolete spherocytosis (disease)|spherocytosis	http://purl.obolibrary.org/obo/MONDO_0000094		
MONDO:0000093	biolink:Disease	Schistosoma mansoni infection, susceptibility			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000093		predisposition
MONDO:0000092	biolink:Disease	obsolete pyloric stenosis, infantile			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000092		
MONDO:0000091	biolink:Disease	obsolete progressive familial heart block			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000091		
GO:0000262	biolink:NamedThing	mitochondrial chromosome	A chromosome found in the mitochondrion of a eukaryotic cell.		mondo.json	mitochondrial DNA|mitochondrial genome|mtDNA	http://purl.obolibrary.org/obo/GO_0000262		
MONDO:0000098	biolink:Disease	obsolete thyrotoxic periodic paralysis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000098		
MONDO:0000097	biolink:Disease	obsolete thyroid dyshormonogenesis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000097		
MONDO:0000096	biolink:Disease	obsolete pulmonary surfactant metabolism dysfunction			mondo.json	SMDP	http://purl.obolibrary.org/obo/MONDO_0000096		
MONDO:0000095	biolink:Disease	obsolete split-hand/foot malformation			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000095		
GO:0036211	biolink:NamedThing	protein modification process	The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification).		mondo.json	cellular protein modification process|protein modification|process resulting in protein modification	http://purl.obolibrary.org/obo/GO_0036211		
MONDO:0012089	biolink:Disease	ichthyosis prematurity syndrome	Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.	Orphanet:88621|UMLS:C1504431|MESH:C536271|SCTID:12381000132107|NCIT:C62590|UMLS:C1837610|OMIM:608649|GARD:0009886	mondo.json	IPS|idiopathic pneumonia syndrome|ichthyosis-prematurity syndrome|ichthyosis prematurity syndrome|ichthyosis congenita IV|congenital ichthyosis type 4|ichthyosis congenita 4	http://purl.obolibrary.org/obo/MONDO_0012089	UMLS:C1504431|https://omim.org/entry/608649|Orphanet:88621|http://identifiers.org/mesh/C536271|NCIT:C62590|UMLS:C1837610|http://identifiers.org/snomedct/12381000132107	ordo_disease|gard_rare
MONDO:0000090	biolink:Disease	progressive external ophthalmoplegia with mitochondrial DNA deletions		OMIMPS:157640|UMLS:CN239267	mondo.json	progressive external ophthalmoplegia with mtDNA deletions	http://purl.obolibrary.org/obo/MONDO_0000090	UMLS:CN239267|https://omim.org/phenotypicSeries/PS157640	
CHEBI:38187	biolink:ChemicalSubstance	pyridinecarbaldehyde			mondo.json	pyridinecarbaldehydes	http://purl.obolibrary.org/obo/CHEBI_38187		
MONDO:0012083	biolink:Disease	autosomal dominant nonsyndromic hearing loss 28	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene.	DOID:0110557|MESH:C563890|OMIM:608641|UMLS:C1837640	mondo.json	autosomal dominant nonsyndromic deafness type 28|autosomal dominant nonsyndromic deafness 28|autosomal dominant deafness 28|autosomal dominant nonsyndromic deafness caused by mutation in GRHL2|deafness, autosomal dominant type 28|GRHL2 autosomal dominant nonsyndromic deafness|DFNA28|deafness, autosomal dominant 28	http://purl.obolibrary.org/obo/MONDO_0012083	DOID:0110557|UMLS:C1837640|http://identifiers.org/mesh/C563890|https://omim.org/entry/608641	
MONDO:0012084	biolink:Disease	aromatic L-amino acid decarboxylase deficiency	Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.	SCTID:237922009|Orphanet:35708|DOID:0090123|NCIT:C142085|ICD9:270.8|MESH:C537437|OMIM:608643|GARD:770|GARD:0000770	mondo.json	DDC deficiency|Dopa decarboxylase deficiency|AADC deficiency|aromatic L-amino acid decarboxylase deficiency|aromatic L-amino-acid decarboxylase deficiency|aromatic amino acid decarboxylase deficiency|Aadc deficiency	http://purl.obolibrary.org/obo/MONDO_0012084	https://omim.org/entry/608643|http://identifiers.org/mesh/C537437|http://identifiers.org/snomedct/237922009|DOID:0090123|NCIT:C142085|Orphanet:35708	gard_rare|ordo_disease
MONDO:0012081	biolink:Disease	15q11q13 microduplication syndrome	The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.	UMLS:C2675336|NCIT:C126692|OMIM:608636|UMLS:C4304726|Orphanet:238446|SCTID:719427001	mondo.json	chromosome 15Q11.2 Duplication syndrome|trisomy 15q11q13|chromosome 15q11-q13 DUPLICATION syndrome|autism, susceptibility to, 4|15q11-q13 duplication syndrome|15q11q13 duplication syndrome|dup(15)(q11q13)|Duplication 15Q11-q13 syndrome|15q11-q13 microduplication syndrome|autism susceptibility 4|trisomy 15q11-q13	http://purl.obolibrary.org/obo/MONDO_0012081	http://identifiers.org/snomedct/719427001|UMLS:C2675336|Orphanet:238446|UMLS:C4304726|NCIT:C126692|https://omim.org/entry/608636	predisposition|ordo_malformation_syndrome
MONDO:0012082	biolink:Disease	asperger syndrome, susceptibility to, 1		OMIM:608638|UMLS:C1837646	mondo.json	ASPG1|Asperger syndrome susceptibility 1, Isolated cases|ASPERGER syndrome, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0012082	UMLS:C1837646|https://omim.org/entry/608638	predisposition
MONDO:0012087	biolink:Disease	primary ciliary dyskinesia 4	A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has material basis in variation in the chromosome region 15q13.1-q15.1.	OMIM:608646|DOID:0110614|UMLS:C1837616|MESH:C535279	mondo.json	ciliary dyskinesia, primary, 4, with or without situs inversus|primary ciliary dyskinesia type 4|ciliary dyskinesia, primary, 4|primary ciliary dyskinesia 4 with or without situs inversus|CILD4	http://purl.obolibrary.org/obo/MONDO_0012087	https://omim.org/entry/608646|http://identifiers.org/mesh/C535279|DOID:0110614|UMLS:C1837616	
MONDO:0012088	biolink:Disease	primary ciliary dyskinesia 5	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the HYDIN gene.	OMIM:608647|MESH:C563886|DOID:0110617|UMLS:C1837615	mondo.json	primary ciliary dyskinesia type 5|HYDIN primary ciliary dyskinesia|primary ciliary dyskinesia 5 without situs inversus|ciliary dyskinesia, primary, 5, without situs inversus|primary ciliary dyskinesia caused by mutation in HYDIN|ciliary dyskinesia, primary, type 5|CILD5|ciliary dyskinesia, primary, 5	http://purl.obolibrary.org/obo/MONDO_0012088	https://omim.org/entry/608647|UMLS:C1837615|DOID:0110617|http://identifiers.org/mesh/C563886	
MONDO:0012085	biolink:Disease	primary ciliary dyskinesia 3	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH5 gene.	UMLS:C1837618|MESH:C535278|DOID:0110599|OMIM:608644	mondo.json	primary ciliary dyskinesia 3|CILD3|ciliary dyskinesia, primary, type 3|primary ciliary dyskinesia 3 with or without situs inversus|primary ciliary dyskinesia type 3|primary ciliary dyskinesia caused by mutation in DNAH5|ciliary dyskinesia, primary, 3|DNAH5 primary ciliary dyskinesia|ciliary dyskinesia, primary, 3, with or without situs inversus	http://purl.obolibrary.org/obo/MONDO_0012085	https://omim.org/entry/608644|http://identifiers.org/mesh/C535278|DOID:0110599|UMLS:C1837618	
MONDO:0012086	biolink:Disease	autosomal dominant nonsyndromic hearing loss 31	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p21.3.	OMIM:608645|MESH:C563888|DOID:0110561|UMLS:C1837617	mondo.json	autosomal dominant nonsyndromic deafness 31|deafness, autosomal dominant 31|autosomal dominant nonsyndromic deafness type 31|DFNA31|autosomal dominant deafness 31	http://purl.obolibrary.org/obo/MONDO_0012086	https://omim.org/entry/608645|DOID:0110561|UMLS:C1837617|http://identifiers.org/mesh/C563888	
GO:0000278	biolink:NamedThing	mitotic cell cycle	Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent.		mondo.json	mitosis	http://purl.obolibrary.org/obo/GO_0000278		
GO:0048259	biolink:NamedThing	regulation of receptor-mediated endocytosis	Any process that modulates the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport.		mondo.json	regulation of receptor mediated endocytosis	http://purl.obolibrary.org/obo/GO_0048259		
GO:0000272	biolink:NamedThing	polysaccharide catabolic process	The chemical reactions and pathways resulting in the breakdown of a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically.		mondo.json	multicellular organismal polysaccharide catabolic process|polysaccharide degradation|polysaccharide breakdown|polysaccharide catabolism	http://purl.obolibrary.org/obo/GO_0000272		
GO:0000271	biolink:NamedThing	polysaccharide biosynthetic process	The chemical reactions and pathways resulting in the formation of a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically.		mondo.json	polysaccharide anabolism|polysaccharide biosynthesis|glycan biosynthesis|glycan biosynthetic process|polysaccharide synthesis|polysaccharide formation	http://purl.obolibrary.org/obo/GO_0000271		
MONDO:0012078	biolink:Disease	Joubert syndrome 3	Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene.	UMLS:C1837713|MESH:C536295|OMIM:608629|NCIT:C148259|DOID:0110998	mondo.json	AHI1 Joubert syndrome|Joubert syndrome type 3|Joubert syndrome 3|JBTS3|Joubert syndrome caused by mutation in AHI1	http://purl.obolibrary.org/obo/MONDO_0012078	https://omim.org/entry/608629|NCIT:C148259|http://identifiers.org/mesh/C536295|UMLS:C1837713|DOID:0110998	
MONDO:0012079	biolink:Disease	asperger syndrome, susceptibility to, 2		UMLS:C1837697|OMIM:608631	mondo.json	ASPERGER syndrome, susceptibility to, 2|ASPG2|Asperger syndrome susceptibility 2, Isolated cases	http://purl.obolibrary.org/obo/MONDO_0012079	https://omim.org/entry/608631|UMLS:C1837697	predisposition
MONDO:0012072	biolink:Disease	familial partial lipodystrophy, Kobberling type	Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.	DOID:0070207|Orphanet:79084|GARD:0012598|OMIM:608600|SCTID:725035001	mondo.json	lipodystrophy, familial partial, Kobberling type|FPLD1|familial partial lipodystrophy type 1|familial partial lipodystrophy type Köbberling|familial partial lipodystrophy, Köbberling type|lipodystrophy, familial partial, type 1	http://purl.obolibrary.org/obo/MONDO_0012072	DOID:0070207|https://omim.org/entry/608600|http://identifiers.org/snomedct/725035001|Orphanet:79084	ordo_disease
MONDO:0012073	biolink:Disease	ribose-5-P isomerase deficiency	Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.	ICD9:277.6|UMLS:C1291609|MESH:C563212|SCTID:124667004|Orphanet:440706|OMIM:608611	mondo.json	ribose 5-phosphate isomerase deficiency	http://purl.obolibrary.org/obo/MONDO_0012073	https://omim.org/entry/608611|Orphanet:440706|http://identifiers.org/mesh/C563212|http://identifiers.org/snomedct/124667004|UMLS:C1291609	ordo_disease
MONDO:0012070	biolink:Disease	obsolete autosomal dominant Charcot-Marie-Tooth disease type 2G			mondo.json		http://purl.obolibrary.org/obo/MONDO_0012070		
CHEBI:38196	biolink:ChemicalSubstance	hydroxymethylpyridine	Any member of the class of  pyridines carrying a hydroxymethyl substituent at unspecified position.		mondo.json	hydroxymethylpyridines	http://purl.obolibrary.org/obo/CHEBI_38196		
MONDO:0012071	biolink:Disease	congenital generalized lipodystrophy type 1	Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene.	OMIM:608594|DOID:0111135|GARD:0000084	mondo.json	lipodystrophy, Berardinelli-Seip congenital, type 1|Berardinelli-Seip congenital lipodystrophy, type 1|AGPAT2 congenital generalized lipodystrophy (disease)|AGPAT2-related Brunzell syndrome|lipodystrophy, congenital generalized, type 1|BSCL1|CGL1|congenital generalized lipodystrophy type 1|Berardinelli-Seip congenital lipodystrophy type 1|Brunzell syndrome AGPAT2-related|congenital generalized lipodystrophy (disease) caused by mutation in AGPAT2|Brunzell syndrome, AGPAT2-related	http://purl.obolibrary.org/obo/MONDO_0012071	https://omim.org/entry/608594|DOID:0111135	gard_rare
MONDO:0012076	biolink:Disease	midface hypoplasia, obesity, developmental delay, and neonatal hypotonia		UMLS:C1837730|MESH:C563896|OMIM:608624	mondo.json	midface hypoplasia, obesity, developmental delay, and neonatal hypotonia	http://purl.obolibrary.org/obo/MONDO_0012076	https://omim.org/entry/608624|UMLS:C1837730|http://identifiers.org/mesh/C563896	
MONDO:0012077	biolink:Disease	amyotrophic lateral sclerosis type 8	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VAPB gene.	OMIM:608627|MESH:C563895|GARD:0010499|DOID:0050752	mondo.json	VAPB amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 8|amyotrophic lateral sclerosis caused by mutation in VAPB|ALS8|amyotrophic lateral sclerosis type 8	http://purl.obolibrary.org/obo/MONDO_0012077	http://identifiers.org/mesh/C563895|https://omim.org/entry/608627|DOID:0050752	gard_rare
CHEBI:51151	biolink:ChemicalSubstance	dipolar compound	An  organic molecule that is electrically neutral carrying a positive and a negative charge in one of its major canonical descriptions. In most dipolar compounds the charges are delocalized; however the term is also applied to species where this is not the case.		mondo.json	dipolar compounds	http://purl.obolibrary.org/obo/CHEBI_51151		
MONDO:0012074	biolink:Disease	mandibuloacral dysplasia with type B lipodystrophy		UMLS:C1837756|MESH:C535706|Orphanet:90154|GARD:0009989|OMIM:608612	mondo.json	MADB|MANDIBULOACRAL dysplasia with type B lipodystrophy|mandibuloacral dysplasia with type B lipodystrophy|lipodystrophy, type B, associated with Mandibuloacral dysplasia	http://purl.obolibrary.org/obo/MONDO_0012074	https://omim.org/entry/608612|Orphanet:90154|http://identifiers.org/mesh/C535706|UMLS:C1837756	ordo_clinical_subtype|gard_rare
MONDO:0012075	biolink:Disease	oligodontia-cancer predisposition syndrome		MESH:C563898|UMLS:C1837750|OMIM:608615|Orphanet:300576	mondo.json	autosomal dominant ectodermal dysplasia-cancer predisposition syndrome|ODCRCS|oligodontia-cancer predisposition syndrome|tooth agenesis-colorectal cancer syndrome|oligodontia-colorectal cancer syndrome	http://purl.obolibrary.org/obo/MONDO_0012075	https://omim.org/entry/608615|UMLS:C1837750|Orphanet:300576|http://identifiers.org/mesh/C563898	ordo_disease
GO:0048261	biolink:NamedThing	negative regulation of receptor-mediated endocytosis	Any process that stops, prevents, or reduces the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport.		mondo.json	down regulation of receptor mediated endocytosis|inhibition of receptor mediated endocytosis|downregulation of receptor mediated endocytosis|down-regulation of receptor mediated endocytosis|negative regulation of receptor mediated endocytosis	http://purl.obolibrary.org/obo/GO_0048261		
GO:0048260	biolink:NamedThing	positive regulation of receptor-mediated endocytosis	Any process that activates or increases the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport.		mondo.json	up-regulation of receptor mediated endocytosis|up regulation of receptor mediated endocytosis|activation of receptor mediated endocytosis|positive regulation of receptor mediated endocytosis|stimulation of receptor mediated endocytosis|upregulation of receptor mediated endocytosis	http://purl.obolibrary.org/obo/GO_0048260		
GO:1903429	biolink:NamedThing	regulation of cell maturation	Any process that modulates the frequency, rate or extent of cell maturation.		mondo.json	regulation of functional differentiation	http://purl.obolibrary.org/obo/GO_1903429		
CHEBI:26188	biolink:ChemicalSubstance	polyketide	Natural and synthetic compounds containing alternating carbonyl and methylene groups ('beta-polyketones'), biogenetically derived from repeated condensation of acetyl coenzyme A (via malonyl coenzyme A), and usually the compounds derived from them by further condensations, etc. Considered by many to be synonymous with the less frequently used terms acetogenins and ketides.		mondo.json	polyketides|polyketide	http://purl.obolibrary.org/obo/CHEBI_26188		
HGNC:25481	biolink:NamedThing	TRMU			mondo.json		http://identifiers.org/hgnc/25481		
GO:1903430	biolink:NamedThing	negative regulation of cell maturation	Any process that stops, prevents or reduces the frequency, rate or extent of cell maturation.		mondo.json	down regulation of cell maturation|down regulation of functional differentiation|downregulation of cell maturation|down-regulation of functional differentiation|negative regulation of functional differentiation|inhibition of cell maturation|inhibition of functional differentiation|down-regulation of cell maturation|downregulation of functional differentiation	http://purl.obolibrary.org/obo/GO_1903430		
CHEBI:26191	biolink:ChemicalSubstance	polyol	A compound that contains two or more hydroxy groups.		mondo.json	polyols	http://purl.obolibrary.org/obo/CHEBI_26191		
CHEBI:51143	biolink:ChemicalSubstance	nitrogen molecular entity			mondo.json	nitrogen molecular entities|nitrogen compounds|Nitrogenous compounds	http://purl.obolibrary.org/obo/CHEBI_51143		
CHEBI:38164	biolink:ChemicalSubstance	organic heteropentacyclic compound			mondo.json	organic heteropentacyclic compounds	http://purl.obolibrary.org/obo/CHEBI_38164		
CHEBI:38166	biolink:ChemicalSubstance	organic heteropolycyclic compound			mondo.json	organic heteropolycyclic compounds	http://purl.obolibrary.org/obo/CHEBI_38166		
CHEBI:38182	biolink:ChemicalSubstance	monohydroxypyridine	A hydroxypyridine carrying a single hydroxy substituent.		mondo.json	monohydroxypyridines	http://purl.obolibrary.org/obo/CHEBI_38182		
GO:1903431	biolink:NamedThing	positive regulation of cell maturation	Any process that activates or increases the frequency, rate or extent of cell maturation.		mondo.json	up-regulation of functional differentiation|upregulation of cell maturation|activation of functional differentiation|up-regulation of cell maturation|upregulation of functional differentiation|up regulation of cell maturation|activation of cell maturation|positive regulation of functional differentiation|up regulation of functional differentiation	http://purl.obolibrary.org/obo/GO_1903431		
HGNC:25491	biolink:NamedThing	FRMD4A			mondo.json		http://identifiers.org/hgnc/25491		
MONDO:0036042	biolink:Disease	KAT6B-related multiple congenital anomalies syndrome		Orphanet:597749	mondo.json	KAT6B-related disorder	http://purl.obolibrary.org/obo/MONDO_0036042	Orphanet:597749	ordo_group_of_disorders
CHEBI:38179	biolink:ChemicalSubstance	monocyclic heteroarene			mondo.json	monocyclic heteroarenes	http://purl.obolibrary.org/obo/CHEBI_38179		
MONDO:0036045	biolink:Disease	euthyroid dysprealbuminemic hyperthyroxinemia		Orphanet:597939	mondo.json	Euthyroid dystransthyretinemic hyperthyroxinemia	http://purl.obolibrary.org/obo/MONDO_0036045	Orphanet:597939	ordo_disorder
GO:0097205	biolink:NamedThing	renal filtration	A renal system process in which fluid circulating through the body is filtered through a barrier system.		mondo.json		http://purl.obolibrary.org/obo/GO_0097205		
GO:0002885	biolink:NamedThing	positive regulation of hypersensitivity	Any process that activates or increases the frequency, rate, or extent of hypersensitivity.		mondo.json	up regulation of hypersensitivity|stimulation of hypersensitivity|up-regulation of hypersensitivity|activation of hypersensitivity|upregulation of hypersensitivity	http://purl.obolibrary.org/obo/GO_0002885		
GO:0002886	biolink:NamedThing	regulation of myeloid leukocyte mediated immunity	Any process that modulates the frequency, rate, or extent of myeloid leukocyte mediated immunity.		mondo.json		http://purl.obolibrary.org/obo/GO_0002886		
GO:0002887	biolink:NamedThing	negative regulation of myeloid leukocyte mediated immunity	Any process that stops, prevents, or reduces the frequency, rate, or extent of myeloid leukocyte mediated immunity.		mondo.json	down-regulation of myeloid leukocyte mediated immunity|down regulation of myeloid leukocyte mediated immunity|inhibition of myeloid leukocyte mediated immunity|downregulation of myeloid leukocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002887		
GO:0002888	biolink:NamedThing	positive regulation of myeloid leukocyte mediated immunity	Any process that activates or increases the frequency, rate, or extent of myeloid leukocyte mediated immunity.		mondo.json	upregulation of myeloid leukocyte mediated immunity|up-regulation of myeloid leukocyte mediated immunity|up regulation of myeloid leukocyte mediated immunity|activation of myeloid leukocyte mediated immunity|stimulation of myeloid leukocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002888		
GO:0048285	biolink:NamedThing	organelle fission	The creation of two or more organelles by division of one organelle.		mondo.json		http://purl.obolibrary.org/obo/GO_0048285		
GO:0000226	biolink:NamedThing	microtubule cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins.		mondo.json	microtubule cytoskeleton organization and biogenesis|microtubule cytoskeleton organisation|microtubule dynamics	http://purl.obolibrary.org/obo/GO_0000226		
GO:0048284	biolink:NamedThing	organelle fusion	The creation of a single organelle from two or more organelles.		mondo.json		http://purl.obolibrary.org/obo/GO_0048284		
GO:0000224	biolink:NamedThing	peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity	Catalysis of the reaction: 4-N-(N-acetyl-D-glucosaminyl)-protein + H2O = N-acetyl-beta-D-glucosaminylamine + peptide L-aspartate. This reaction is the hydrolysis of an N4-(acetyl-beta-D-glucosaminyl)asparagine residue in which the N-acetyl-D-glucosamine residue may be further glycosylated, to yield a (substituted) N-acetyl-beta-D-glucosaminylamine and the peptide containing an aspartic residue.		mondo.json	glycopeptide N-glycosidase activity|PNGase F|PNGase|peptide:N-glycanase|jack-bean glycopeptidase|PNGase A|glycopeptidase activity|N-linked-glycopeptide-(N-acetyl-beta-D-glucosaminyl)-L-asparagine amidohydrolase activity|N-glycanase activity|N-oligosaccharide glycopeptidase activity	http://purl.obolibrary.org/obo/GO_0000224		
ENVO:01001501	biolink:NamedThing	radiation from a manufactured product	An electromagnetic radiation process during which electromagnetic waves or their quanta are emitted from a manufactured product.		mondo.json	artificial radiation|anthropogenic radiation	http://purl.obolibrary.org/obo/ENVO_01001501		
GO:0002883	biolink:NamedThing	regulation of hypersensitivity	Any process that modulates the frequency, rate, or extent of hypersensitivity.		mondo.json		http://purl.obolibrary.org/obo/GO_0002883		
GO:0002884	biolink:NamedThing	negative regulation of hypersensitivity	Any process that stops, prevents, or reduces the frequency, rate, or extent of hypersensitivity.		mondo.json	downregulation of hypersensitivity|down regulation of hypersensitivity|inhibition of hypersensitivity|down-regulation of hypersensitivity	http://purl.obolibrary.org/obo/GO_0002884		
HGNC:25461	biolink:NamedThing	PUS3			mondo.json		http://identifiers.org/hgnc/25461		
CHEBI:26167	biolink:ChemicalSubstance	polar amino acid	Any amino acid whose side chain is capable of forming one or more hydrogen bonds.		mondo.json	polar amino-acid|polar amino acid|polar amino-acids|polar amino acids	http://purl.obolibrary.org/obo/CHEBI_26167		
GO:0000229	biolink:NamedThing	obsolete cytoplasmic chromosome	OBSOLETE. A chromosome found in the cytoplasm.		mondo.json	cytoplasmic interphase chromosome	http://purl.obolibrary.org/obo/GO_0000229		
GO:0000228	biolink:NamedThing	nuclear chromosome	A chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact.		mondo.json	nuclear interphase chromosome	http://purl.obolibrary.org/obo/GO_0000228		
HGNC:13486	biolink:NamedThing	USP27X			mondo.json		http://identifiers.org/hgnc/13486		
HGNC:13487	biolink:NamedThing	VPS35			mondo.json		http://identifiers.org/hgnc/13487		
CHEBI:38147	biolink:ChemicalSubstance	cardiotonic drug	A drug that has a strengthening effect on the heart or that can increase cardiac output.		mondo.json	cardiotonic drugs	http://purl.obolibrary.org/obo/CHEBI_38147		
GO:0002889	biolink:NamedThing	regulation of immunoglobulin mediated immune response	Any process that modulates the frequency, rate, or extent of an immunoglobulin mediated immune response.		mondo.json		http://purl.obolibrary.org/obo/GO_0002889		
HGNC:13481	biolink:NamedThing	UNC93B1			mondo.json		http://identifiers.org/hgnc/13481		
GO:0002892	biolink:NamedThing	regulation of type II hypersensitivity	Any process that modulates the frequency, rate, or extent of type II hypersensitivity.		mondo.json		http://purl.obolibrary.org/obo/GO_0002892		
GO:0002893	biolink:NamedThing	negative regulation of type II hypersensitivity	Any process that stops, prevents, or reduces the frequency, rate, or extent of type II hypersensitivity.		mondo.json	downregulation of type II hypersensitivity|down regulation of type II hypersensitivity|inhibition of type II hypersensitivity|down-regulation of type II hypersensitivity	http://purl.obolibrary.org/obo/GO_0002893		
GO:0002894	biolink:NamedThing	positive regulation of type II hypersensitivity	Any process that activates or increases the frequency, rate, or extent of type II hypersensitivity.		mondo.json	up regulation of type II hypersensitivity|stimulation of type II hypersensitivity|activation of type II hypersensitivity|up-regulation of type II hypersensitivity|upregulation of type II hypersensitivity	http://purl.obolibrary.org/obo/GO_0002894		
GO:0002890	biolink:NamedThing	negative regulation of immunoglobulin mediated immune response	Any process that stops, prevents, or reduces the frequency, rate, or extent of an immunoglobulin mediated immune response.		mondo.json	inhibition of immunoglobulin mediated immune response|downregulation of immunoglobulin mediated immune response|down-regulation of immunoglobulin mediated immune response|down regulation of immunoglobulin mediated immune response	http://purl.obolibrary.org/obo/GO_0002890		
GO:0002891	biolink:NamedThing	positive regulation of immunoglobulin mediated immune response	Any process that activates or increases the frequency, rate, or extent of an immunoglobulin mediated immune response.		mondo.json	up-regulation of immunoglobulin mediated immune response|up regulation of immunoglobulin mediated immune response|activation of immunoglobulin mediated immune response|stimulation of immunoglobulin mediated immune response|upregulation of immunoglobulin mediated immune response	http://purl.obolibrary.org/obo/GO_0002891		
MONDO:0002699	biolink:Disease	obsolete pancreatic ductal carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002699		
MONDO:0000036	biolink:Disease	obsolete hemolytic anemia, nonspherocytic			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000036		
MONDO:0000035	biolink:Disease	obsolete glucocorticoid deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000035		
MONDO:0000034	biolink:Disease	obsolete glomerulopathy with fibronectin deposits			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000034		
MONDO:0000033	biolink:Disease	obsolete frontonasal dysplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000033		
MONDO:0002695	biolink:Disease	sagittal sinus thrombosis	Formation or presence of a blood clot (thrombus) in the superior sagittal sinus or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, craniocerebral trauma; and neurosurgical procedures. Clinical features are primarily related to the increased intracranial pressure causing headache; nausea; and vomiting. Severe cases can evolve to seizures or coma.	SCTID:192760003|DOID:3576|MESH:D020225|UMLS:C0338575	mondo.json	thrombosis of superior sagittal sinus|thrombosis of superior longitudinal sinus	http://purl.obolibrary.org/obo/MONDO_0002695	UMLS:C0338575|DOID:3576|http://identifiers.org/snomedct/192760003|http://identifiers.org/mesh/D020225	
MONDO:0002696	biolink:Disease	Sertoli cell tumor	A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course.	UMLS:C0036769|DOID:3577|ICDO:8630/1|NCIT:C39976|ICDO:8640/1|MESH:D012707	mondo.json	tubular androblastoma NOS (morphologic abnormality)|tubular androblastoma|Sertoli cell tumor	http://purl.obolibrary.org/obo/MONDO_0002696	http://identifiers.org/mesh/D012707|DOID:3577|UMLS:C0036769|NCIT:C39976	
NCBITaxon:38946	biolink:OrganismalEntity	Paracoccidioides		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_38946		
MONDO:0000039	biolink:Disease	obsolete hypercalciuria, absorptive			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000039		
MONDO:0002697	biolink:Disease	ovarian gonadoblastoma	A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites.	EFO:1000420|DOID:3578|HP:0000149|Orphanet:206484|SCTID:716594002|UMLS:C1518716|NCIT:C39985|OMIM:424500	mondo.json	gonadoblastoma|ovarian gonadoblastoma|ovarian gonadoblastoma (disease)|gonadoblastoma of ovary|ovary gonadoblastoma|GBY	http://purl.obolibrary.org/obo/MONDO_0002697	DOID:3578|Orphanet:206484|UMLS:C1518716|NCIT:C39985|http://identifiers.org/snomedct/716594002|https://omim.org/entry/424500	
MONDO:0000038	biolink:Disease	obsolete hyper-IgE recurrent infection syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000038		
MONDO:0002698	biolink:Disease	testicular gonadoblastoma	A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells.	DOID:3579|UMLS:C1515283|NCIT:C39911|HP:0000030	mondo.json	testis gonadoblastoma|testicular gonadoblastoma|gonadoblastoma of testis|testicular gonadoblastoma (disease)	http://purl.obolibrary.org/obo/MONDO_0002698	DOID:3579|NCIT:C39911|UMLS:C1515283	
MONDO:0000037	biolink:Disease	obsolete herpes simplex encephalitis, susceptibility			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000037		predisposition
MONDO:0002691	biolink:Disease	liver cancer	An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma.	SCTID:93870000|UMLS:C0854795|ICD9:155.0|NCIT:C34803|UMLS:C0345904|DOID:3571|UMLS:C0024620|ICD9:155.2|GARD:0006608|UMLS:C0023903	mondo.json	liver cancer|malignant liver neoplasm|primary liver cancer|hepatic neoplasm|malignant neoplasm of liver|non-resectable primary hepatic malignant neoplasm|malignant hepato-biliary neoplasm|resectable malignant neoplasm of the liver|cancer of liver|malignant neoplasm of liver, not specified as primary or secondary|Ca liver - primary|ca liver - primary|malignant neoplasm of liver, primary|primary cancer of liver|hepatic cancer|primary malignant neoplasm of liver|primary tumor of the liver|primary malignant liver neoplasm|malignant tumor of liver|Resectable malignant neoplasm of liver	http://purl.obolibrary.org/obo/MONDO_0002691	NCIT:C34803|UMLS:C0024620|DOID:3571|UMLS:C0854795|http://identifiers.org/snomedct/93870000|UMLS:C0345904	
MONDO:0002692	biolink:Disease	intracranial sinus thrombosis	Formation or presence of a blood clot (thrombus) in the cranial sinuses, large endothelium-lined venous channels situated within the skull. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe headache; seizure; and other neurological defects.	UMLS:C0037198|DOID:3572|MESH:D012851	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002692	http://identifiers.org/mesh/D012851|DOID:3572|UMLS:C0037198	
MONDO:0002693	biolink:Disease	lateral sinus thrombosis	Formation or presence of a blood clot (thrombus) in the lateral sinuses. This condition is often associated with ear infections (otitis media or mastoiditis) without antibiotic treatment. In developed nations, lateral sinus thrombosis can result from craniocerebral trauma; brain neoplasms; neurosurgical procedures; thrombophilia; and other conditions. Clinical features include headache; vertigo; and increased intracranial pressure.	SCTID:192761004|DOID:3574|MESH:D020227|UMLS:C0270639	mondo.json	thrombosis transverse sinus|thrombosis of lateral venous sinus	http://purl.obolibrary.org/obo/MONDO_0002693	http://identifiers.org/snomedct/192761004|DOID:3574|http://identifiers.org/mesh/D020227|UMLS:C0270639	
MONDO:0002694	biolink:Disease	cavernous sinus thrombosis	Formation or presence of a blood clot (thrombus) in the cavernous sinus of the brain. Infections of the paranasal sinuses and adjacent structures, craniocerebral trauma, and thrombophilia are associated conditions. Clinical manifestations include dysfunction of cranial nerves iii, iv, V, and vi, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711)	DOID:3575|MESH:D020226|UMLS:C0238454|SCTID:89980009	mondo.json	thrombosis of cavernous venous sinus	http://purl.obolibrary.org/obo/MONDO_0002694	DOID:3575|http://identifiers.org/mesh/D020226|UMLS:C0238454|http://identifiers.org/snomedct/89980009	
MONDO:0000032	biolink:Disease	febrile seizures, familial		OMIMPS:121210|DOID:0111297	mondo.json	seizures, familial febrile	http://purl.obolibrary.org/obo/MONDO_0000032	https://omim.org/phenotypicSeries/PS121210|DOID:0111297	
MONDO:0000031	biolink:Disease	obsolete fatty liver disease, nonalcoholic			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000031		
HGNC:25443	biolink:NamedThing	C19orf12			mondo.json		http://identifiers.org/hgnc/25443		
MONDO:0000030	biolink:Disease	sleep-related hypermotor epilepsy		OMIMPS:600513	mondo.json	sleep-related hypermotor epilepsy|epilepsy, nocturnal frontal lobe	http://purl.obolibrary.org/obo/MONDO_0000030	https://omim.org/phenotypicSeries/PS600513	
MONDO:0002690	biolink:Disease	obsolete meningioma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002690		
MONDO:0014688	biolink:Disease	short-rib thoracic dysplasia 14 with polydactyly	An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.	UMLS:C4225286|OMIM:616546|DOID:0110096	mondo.json	SRTD14|short-rib thoracic dysplasia 14 with polydactyly	http://purl.obolibrary.org/obo/MONDO_0014688	UMLS:C4225286|DOID:0110096|https://omim.org/entry/616546	
NCBITaxon:204428	biolink:OrganismalEntity	Chlamydiae		PMID:29458499|PMID:26654112|PMID:24185849|GC_ID:11	mondo.json	Chlamydiota|Chlamydaeota	http://purl.obolibrary.org/obo/NCBITaxon_204428		
MONDO:0012025	biolink:Disease	branchiootic syndrome 3	Any branchiootic syndrome in which the cause of the disease is a mutation in the SIX1 gene.	UMLS:C1842124|OMIM:608389|MESH:C564248	mondo.json	BOS3|branchiootic syndrome caused by mutation in SIX1|branchiootic syndrome 3|branchiootic syndrome type 3|bo syndrome 3|SIX1 branchiootic syndrome	http://purl.obolibrary.org/obo/MONDO_0012025	UMLS:C1842124|http://identifiers.org/mesh/C564248|https://omim.org/entry/608389	
MONDO:0014687	biolink:Disease	retinitis pigmentosa 73	Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene.	OMIM:616544|UMLS:C4225287|DOID:0110389|ICD10CM:H35.5	mondo.json	retinitis pigmentosa 73|retinitis pigmentosa caused by mutation in HGSNAT|retinitis pigmentosa type 73|RP73|HGSNAT retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0014687	UMLS:C4225287|https://omim.org/entry/616544|DOID:0110389	
MONDO:0012026	biolink:Disease	obsolete myotonia, potassium-aggravated			mondo.json		http://purl.obolibrary.org/obo/MONDO_0012026		
MONDO:0012023	biolink:Disease	autosomal dominant nonsyndromic hearing loss 49	An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has material basis in variation in the chromosome region 1q21-q23.	OMIM:608372|MESH:C564250|UMLS:C1842136|DOID:0110572	mondo.json	DFNA49|autosomal dominant nonsyndromic deafness type 49|autosomal dominant deafness 49|autosomal dominant nonsyndromic deafness 49|deafness, autosomal dominant 49	http://purl.obolibrary.org/obo/MONDO_0012023	UMLS:C1842136|http://identifiers.org/mesh/C564250|DOID:0110572|https://omim.org/entry/608372	
MONDO:0014686	biolink:Disease	short stature, microcephaly, and endocrine dysfunction		UMLS:C4225288|OMIM:616541	mondo.json	short stature, microcephaly, and endocrine dysfunction|SSMED	http://purl.obolibrary.org/obo/MONDO_0014686	UMLS:C4225288|https://omim.org/entry/616541	
MONDO:0012024	biolink:Disease	retinitis pigmentosa 26	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CERKL gene.	OMIM:608380|GARD:0010397|UMLS:C1842127|DOID:0110368|ICD10CM:H35.5|MESH:C564249	mondo.json	CERKL retinitis pigmentosa|retinitis pigmentosa caused by mutation in CERKL|RP 26|retinitis pigmentosa type 26|retinitis pigmentosa 26|RP26	http://purl.obolibrary.org/obo/MONDO_0012024	UMLS:C1842127|http://identifiers.org/mesh/C564249|DOID:0110368|https://omim.org/entry/608380	gard_rare
MONDO:0014685	biolink:Disease	progressive myoclonic epilepsy type 9	Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the LMNB2 gene.	UMLS:C4225289|Orphanet:457265|OMIM:616540|DOID:0111450	mondo.json	PME type 9|LMNB2 progressive myoclonic epilepsy|progressive myoclonus epilepsy type 9|epilepsy, progressive myoclonic, type 9|progressive myoclonic epilepsy due to LMNB2 deficiency|EPM9|progressive myoclonic epilepsy caused by mutation in LMNB2|epilepsy, progressive myoclonic, 9	http://purl.obolibrary.org/obo/MONDO_0014685	UMLS:C4225289|DOID:0111450|https://omim.org/entry/616540|Orphanet:457265	ordo_disease
NCBITaxon:204429	biolink:OrganismalEntity	Chlamydiia		PMID:26179278|GC_ID:11	mondo.json	Chlamydiae	http://purl.obolibrary.org/obo/NCBITaxon_204429		
MONDO:0012029	biolink:Disease	microcephaly 6, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPJ gene.	MESH:C564247|OMIM:608393|UMLS:C1842109|DOID:0070290	mondo.json	MCPH6|autosomal recessive primary microcephaly caused by mutation in CENPJ|microcephaly 6, primary, autosomal recessive|CENPJ autosomal recessive primary microcephaly	http://purl.obolibrary.org/obo/MONDO_0012029	UMLS:C1842109|http://identifiers.org/mesh/C564247|https://omim.org/entry/608393|DOID:0070290	
MONDO:0012027	biolink:Disease	autoimmune disease, susceptibility to, 2		OMIM:608391	mondo.json	AIS2|vitiligo-associated multiple autoimmune disease susceptibility 3|autoimmune disease, susceptibility to, 2|autoimmune disease susceptibility locus, chromosome 7-related	http://purl.obolibrary.org/obo/MONDO_0012027	https://omim.org/entry/608391	predisposition
MONDO:0014689	biolink:Disease	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome		OMIM:616549|Orphanet:447974|DOID:0080592|UMLS:C4225285	mondo.json	Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism|Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome|KFS4	http://purl.obolibrary.org/obo/MONDO_0014689	DOID:0080592|UMLS:C4225285|https://omim.org/entry/616549|Orphanet:447974	ordo_malformation_syndrome
MONDO:0012028	biolink:Disease	autoimmune disease, susceptibility to, 3		OMIM:608392	mondo.json	vitiligo-associated multiple autoimmune disease susceptibility 4|autoimmune disease, susceptibility to, 3|autoimmune disease susceptibility locus, chromosome 8-related|AIS3	http://purl.obolibrary.org/obo/MONDO_0012028	https://omim.org/entry/608392	predisposition
MONDO:0014680	biolink:Disease	herpes simplex encephalitis, susceptibility to, 7	Any herpes simplex encephalitis in which the cause of the disease is a mutation in the IRF3 gene.	OMIM:616532	mondo.json	herpes simplex encephalitis, susceptibility to, 7|herpes simplex encephalitis caused by mutation in IRF3|IIAE7|IRF3 herpes simplex encephalitis|Herpes simplex encephalitis, susceptibility to, 5|encephalopathy, acute, infection-induced, susceptibility to, 7|Herpes simplex encephalitis, susceptibility to, type 7|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 7|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0014680	https://omim.org/entry/616532	predisposition
CHEBI:90710	biolink:ChemicalSubstance	receptor modulator	A drug that acts as an antagonist, agonist, reverse agonist, or in some other fashion when interacting with cellular receptors.		mondo.json	receptor modulators	http://purl.obolibrary.org/obo/CHEBI_90710		
MONDO:0014684	biolink:Disease	combined oxidative phosphorylation defect type 26	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene.	Orphanet:477684|EFO:0009036|UMLS:C4225290|DOID:0111490|OMIM:616539	mondo.json	COXPD26|combined oxidative phosphorylation deficiency 26|TRMT5 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in TRMT5|combined oxidative phosphorylation deficiency type 26	http://purl.obolibrary.org/obo/MONDO_0014684	UMLS:C4225290|https://omim.org/entry/616539|Orphanet:477684|DOID:0111490	ordo_disease
MONDO:0012021	biolink:Disease	myopia 17, autosomal dominant		OMIM:608367|UMLS:C3888211	mondo.json	MYP17|myopia 4, formerly|myopia 4|myopia 17, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012021	https://omim.org/entry/608367|UMLS:C3888211	
MONDO:0012022	biolink:Disease	orofacial cleft 4		DOID:0080398|MESH:C564251|UMLS:C1842143|OMIM:608371	mondo.json	orofacial cleft 4|cleft lip with or without cleft palate, nonsyndromic, 4|OFC4	http://purl.obolibrary.org/obo/MONDO_0012022	UMLS:C1842143|http://identifiers.org/mesh/C564251|https://omim.org/entry/608371|DOID:0080398	
MONDO:0014683	biolink:Disease	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9		Orphanet:370997|DOID:0111232|UMLS:C4225291|Orphanet:899|OMIM:616538	mondo.json	MDDGA9|Walker-Warburg syndrome or muscle-eye brain disease, Dag1-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9	http://purl.obolibrary.org/obo/MONDO_0014683	https://omim.org/entry/616538|UMLS:C4225291|DOID:0111232	
MONDO:0014682	biolink:Disease	thyroid cancer, nonmedullary, 5	Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the HABP2 gene.	OMIM:616535|UMLS:C4225292	mondo.json	thyroid cancer, nonmedullary, type 5|NMTC5|thyroid cancer, nonmedullary caused by mutation in HABP2|HABP2 thyroid cancer, nonmedullary|thyroid cancer, nonmedullary, 5	http://purl.obolibrary.org/obo/MONDO_0014682	https://omim.org/entry/616535|UMLS:C4225292	
MONDO:0014681	biolink:Disease	thyroid cancer, nonmedullary, 4	Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the FOXE1 gene.	OMIM:616534|UMLS:C4225293	mondo.json	thyroid cancer, nonmedullary, type 4|thyroid cancer, nonmedullary caused by mutation in FOXE1|NMTC4|FOXE1 thyroid cancer, nonmedullary|thyroid cancer, nonmedullary, 4	http://purl.obolibrary.org/obo/MONDO_0014681	https://omim.org/entry/616534|UMLS:C4225293	
MONDO:0012020	biolink:Disease	chromosome 22q11.2 microduplication syndrome	The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome.	MESH:C567224|ICD9:758.5|UMLS:C2675369|OMIM:608363|DECIPHER:32|GARD:0010557|SCTID:699311001|DOID:0060436|Orphanet:1727	mondo.json	trisomy 22q11.2|duplication 22q11.2|chromosome 22q11.2 microduplication syndrome|chromosome 22q11.2 DUPLICATION syndrome|chromosome 22q11.2 duplication syndrome|22q11 duplication syndrome|22q11.2 microduplication syndrome|22q11.2 duplication|Duplication 22q11.2|chromosome 22q11.2 microduplication syndrome, isolated cases|dup(22)(q11)|22q11.2 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0012020	Orphanet:1727|DOID:0060436|https://omim.org/entry/608363|http://identifiers.org/snomedct/699311001|http://identifiers.org/mesh/C567224|UMLS:C2675369	gard_rare|ordo_malformation_syndrome
MONDO:0000047	biolink:Disease	obsolete immunodeficiency with hyper-IgM			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000047		
MONDO:0000046	biolink:Disease	obsolete hypouricemia, renal			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000046		
MONDO:0000045	biolink:Disease	hypothyroidism, congenital, nongoitrous		OMIMPS:275200	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000045	https://omim.org/phenotypicSeries/PS275200	
CHEBI:77746	biolink:ChemicalSubstance	human metabolite	Any mammalian metabolite  produced during a metabolic reaction in humans (Homo sapiens).		mondo.json	H. sapiens metabolites|H. sapiens metabolite|Homo sapiens metabolite|Homo sapiens metabolites	http://purl.obolibrary.org/obo/CHEBI_77746		
MONDO:0000044	biolink:Disease	hereditary hypophosphatemic rickets	Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium.	GARD:0006735|Orphanet:437|OMIMPS:193100|MedDRA:10060873|ICD10CM:E83.3	mondo.json	hereditary hypophosphatemic rickets	http://purl.obolibrary.org/obo/MONDO_0000044	Orphanet:437|https://omim.org/phenotypicSeries/PS193100	gard_rare|disease_grouping|ordo_group_of_disorders
HGNC:6080	biolink:NamedThing	INPPL1			mondo.json		http://identifiers.org/hgnc/6080		
HGNC:6081	biolink:NamedThing	INS			mondo.json		http://identifiers.org/hgnc/6081		
MONDO:0000049	biolink:Disease	obsolete invasive pneumococcal disease, recurrent isolated		UMLS:CN228622|OMIMPS:610799	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000049	https://omim.org/phenotypicSeries/PS610799|UMLS:CN228622	
MONDO:0000048	biolink:Disease	obsolete immunoglobulin A deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000048		
MONDO:0012009	biolink:Disease	coronary heart disease, susceptibility to, 2		UMLS:C1842260|OMIM:608316	mondo.json	coronary heart disease, susceptibility to, 2|coronary heart disease, susceptibility to, type 2|Chds2	http://purl.obolibrary.org/obo/MONDO_0012009	https://omim.org/entry/608316|UMLS:C1842260	predisposition
MONDO:0000043	biolink:Disease	obsolete hypomagnesemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000043		
HGNC:25455	biolink:NamedThing	TSR2			mondo.json		http://identifiers.org/hgnc/25455		
MONDO:0000042	biolink:Disease	obsolete hyperprolinemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000042		
MONDO:0000041	biolink:Disease	obsolete hyperphosphatasia with mental retardation syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000041		
MONDO:0000040	biolink:Disease	obsolete hyperphenylalaninemia, BH4-deficient			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000040		
MONDO:0012014	biolink:Disease	Charcot-Marie-Tooth disease recessive intermediate A	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.	Orphanet:217055|MESH:C564256|OMIM:608340|GARD:0012453|DOID:0110201|UMLS:C1842197	mondo.json	Charcot-Marie-Tooth disease caused by mutation in GDAP1|Ri-Cmta|RI-CMTA|autosomal recessive intermediate Charcot-Marie-Tooth disease type A|Charcot-Marie-Tooth disease, recessive intermediate A|RI-CMT type A|Charcot-Marie-Tooth neuropathy, recessive Intermediate a|Charcot-Marie-Tooth disease recessive intermediate type A|Charcot-Marie-Tooth neuropathy recessive intermediate A|GDAP1 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, recessive Intermediate type a|Charcot-Marie-Tooth disease, recessive intermediate, A|CMTRIA	http://purl.obolibrary.org/obo/MONDO_0012014	UMLS:C1842197|DOID:0110201|http://identifiers.org/mesh/C564256|Orphanet:217055|https://omim.org/entry/608340	ordo_disease
MONDO:0014677	biolink:Disease	achromatopsia 7	Any achromatopsia in which the cause of the disease is a mutation in the ATF6 gene.	DOID:0110009|UMLS:C4225297|OMIM:616517	mondo.json	achromatopsia caused by mutation in ATF6|ATF6 achromatopsia|achromatopsia type 7|ACHM7|achromatopsia 7	http://purl.obolibrary.org/obo/MONDO_0014677	UMLS:C4225297|DOID:0110009|https://omim.org/entry/616517	
MONDO:0014676	biolink:Disease	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene.	OMIM:616516|MESH:C567633|UMLS:C2750035|DOID:0070248	mondo.json	EMERY-Dreifuss muscular dystrophy 3, autosomal recessive|Emery-Dreifuss muscular dystrophy 3, autosomal recessive|autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA|EDMD3|LMNA autosomal recessive Emery-Dreifuss muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0014676	http://identifiers.org/mesh/C567633|https://omim.org/entry/616516|UMLS:C2750035|DOID:0070248	
MONDO:0012015	biolink:Disease	nystagmus 3, congenital, autosomal dominant		MESH:C537855|UMLS:C1842186|GARD:0009600|OMIM:608345	mondo.json	NYS3|NYSTAGMUS 3, congenital, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012015	http://identifiers.org/mesh/C537855|UMLS:C1842186|https://omim.org/entry/608345	
MONDO:0012012	biolink:Disease	Charcot-Marie-Tooth disease dominant intermediate C	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.	OMIM:608323|MESH:C564257|UMLS:C1842237|Orphanet:100045|DOID:0110199|GARD:0012439|SCTID:765746008	mondo.json	Di-Cmtc|Charcot-Marie-Tooth neuropathy dominant intermediate C|YARS-related intermediate Charcot-Marie-Tooth neuropathy|Charcot-Marie-Tooth disease dominant intermediate type C|Charcot-Marie-Tooth disease caused by mutation in YARS|Charcot-Marie-Tooth disease, dominant intermediate C|YARS Charcot-Marie-Tooth disease|CMTDIC|Charcot-Marie-Tooth neuropathy, dominant Intermediate C|autosomal dominant intermediate Charcot-Marie-Tooth disease type C|DI-CMTC|Charcot-Marie-Tooth disease, dominant Intermediate type C	http://purl.obolibrary.org/obo/MONDO_0012012	http://identifiers.org/snomedct/765746008|DOID:0110199|UMLS:C1842237|http://identifiers.org/mesh/C564257|Orphanet:100045|https://omim.org/entry/608323	ordo_disease
MONDO:0014675	biolink:Disease	autosomal recessive nonsyndromic hearing loss 104	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene.	OMIM:616515|UMLS:C4225298|DOID:0110465	mondo.json	autosomal recessive deafness 104|autosomal recessive nonsyndromic deafness type 104|autosomal recessive nonsyndromic deafness caused by mutation in RIPOR2|deafness, autosomal recessive type 104|DFNB104|deafness, autosomal recessive 104|RIPOR2 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness 104	http://purl.obolibrary.org/obo/MONDO_0014675	UMLS:C4225298|https://omim.org/entry/616515|DOID:0110465	
MONDO:0012013	biolink:Disease	Weill-Marchesani syndrome 2, dominant	A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome.	SCTID:722450007|OMIM:608328|GARD:0002452|Orphanet:2084	mondo.json	glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome|WMS2|Weill-Marchesani syndrome 2|Weill-Marchesani syndrome type 2|mesodermal Dysmorphodystrophy, congenital|GEMSS|Weill-Marchesani syndrome, autosomal dominant|GEMSS syndrome|glaucoma, ectopia, microspherophakia, Stiff joints and short stature syndrome|spherophakia-brachymorphia syndrome	http://purl.obolibrary.org/obo/MONDO_0012013	http://identifiers.org/snomedct/722450007|https://omim.org/entry/608328|Orphanet:2084	ordo_malformation_syndrome
MONDO:0014674	biolink:Disease	maturity-onset diabetes of the young type 14	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the APPL1 gene.	UMLS:C4225299|OMIM:616511|DOID:0111111	mondo.json	maturity-onset diabetes of the young (disease) caused by mutation in APPL1|maturity-onset diabetes of the young, type 14|MODY14|APPL1 maturity-onset diabetes of the young (disease)	http://purl.obolibrary.org/obo/MONDO_0014674	DOID:0111111|UMLS:C4225299|https://omim.org/entry/616511	
MONDO:0012018	biolink:Disease	myopathy, myosin storage, autosomal dominant		UMLS:C1842160|MESH:C564253|OMIM:608358|SCTID:699267007|ICD9:359.89	mondo.json	myopathy with lysis of type 1 myofibrils|MSMA|myopathy, myosin storage, autosomal dominant|myopathy, hyaline body, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012018	http://identifiers.org/snomedct/699267007|UMLS:C1842160|http://identifiers.org/mesh/C564253|https://omim.org/entry/608358	
MONDO:0012019	biolink:Disease	spondyloepiphyseal dysplasia, Kimberley type	Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.	OMIM:608361|Orphanet:93283|MESH:C564252|SCTID:719203001	mondo.json	SEDK|spondyloepiphyseal dysplasia, Kimberley type|Sedk	http://purl.obolibrary.org/obo/MONDO_0012019	http://identifiers.org/snomedct/719203001|http://identifiers.org/mesh/C564252|Orphanet:93283|https://omim.org/entry/608361	ordo_disease
HGNC:13478	biolink:NamedThing	UBE3B			mondo.json		http://identifiers.org/hgnc/13478		
MONDO:0012016	biolink:Disease	capillary malformation-arteriovenous malformation syndrome	This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.	Orphanet:137667|OMIMPS:608354|MESH:C564254|SCTID:703533007|GARD:0011904|ICD9:747.69	mondo.json	CM-AVM|CMAVM|CM-AVM syndrome|capillary malformation without arteriovenous malformation|capillary malformation-arteriovenous malformation	http://purl.obolibrary.org/obo/MONDO_0012016	Orphanet:137667|http://identifiers.org/mesh/C564254|http://identifiers.org/snomedct/703533007|https://omim.org/phenotypicSeries/PS608354	ordo_malformation_syndrome|gard_rare
MONDO:0014679	biolink:Disease	polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis		OMIM:616531|UMLS:C4225295	mondo.json	PMGYCHA|polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	http://purl.obolibrary.org/obo/MONDO_0014679	UMLS:C4225295|https://omim.org/entry/616531	
MONDO:0014678	biolink:Disease	intellectual disability, autosomal dominant 39	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene.	OMIM:616521|DOID:0070069|UMLS:C4225296	mondo.json	autosomal dominant intellectual disability 39|chromosome 2P25.3 Duplication syndrome|autosomal dominant non-syndromic intellectual disability 39|autosomal dominant mental retardation 39|mental retardation, autosomal dominant type 39|intellectual disability, autosomal dominant 39|intellectual developmental disorder, autosomal dominant 39|chromosome 2P25.3 deletion syndrome|mental retardation, autosomal dominant 39|autosomal dominant non-syndromic intellectual disability caused by mutation in MYT1L|MRD39|MYT1L autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant type 39	http://purl.obolibrary.org/obo/MONDO_0014678	UMLS:C4225296|https://omim.org/entry/616521|DOID:0070069	
MONDO:0012017	biolink:Disease	Parkes Weber syndrome	Parkes Weber syndrome (PWS) is a rare congenital condition characterized by a large number of abnormal blood vessels.The main signs and symptoms of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) ofthe bone and soft tissue of the affected limb; and multiple arteriovenousfistulas (abnormal connections between arteries and veins) which canpotentially lead to heart failure. There also may be pain in the affected limb and a difference in size between the limbs. Some cases of Parkes Weber syndrome result from mutations inthe RASA1 gene, andare inherited in an autosomal dominant manner. In these cases, affected people usually have multiple capillary malformations. People with PWS without multiple capillary malformations are unlikely to have mutations in the RASA1 gene; in these cases, the cause of the condition is often unknown. Management typically depends on the presence and severity of symptoms and may includeembolization or surgery in the affected limb.	SCTID:234143003|UMLS:CN074207|UMLS:C0038505|ICD9:759.6|Orphanet:90307|GARD:0009787|OMIM:608355|UMLS:CN206396	mondo.json	Parkes Weber syndrome|PKWS|PARKES WEBER syndrome|Pkws	http://purl.obolibrary.org/obo/MONDO_0012017	UMLS:CN074207|Orphanet:90307|http://identifiers.org/snomedct/234143003|UMLS:CN206396|https://omim.org/entry/608355	ordo_clinical_subtype|gard_rare
HGNC:6086	biolink:NamedThing	INSL3			mondo.json		http://identifiers.org/hgnc/6086		
MONDO:0012010	biolink:Disease	coronary heart disease, susceptibility to, 4		OMIM:608318|UMLS:C1842258	mondo.json	coronary heart disease, susceptibility to, type 4|Chds4|coronary heart disease, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0012010	UMLS:C1842258|https://omim.org/entry/608318	predisposition
MONDO:0014673	biolink:Disease	cataract 44	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene.	Orphanet:98994|UMLS:C4225300|DOID:0110267|OMIM:616509	mondo.json	cataract type 44|CTRCT44|early-onset non-syndromic cataract caused by mutation in LSS|cataract 44|total early-onset cataract|LSS early-onset non-syndromic cataract	http://purl.obolibrary.org/obo/MONDO_0014673	UMLS:C4225300|DOID:0110267|https://omim.org/entry/616509	
MONDO:0012011	biolink:Disease	coronary artery disease, autosomal dominant, 1	Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene.	MESH:C564258|OMIM:608320|UMLS:C1842247	mondo.json	coronary artery disease, autosomal dominant, type 1|MEF2A coronary artery disease|ADCAD1|coronary artery disease with myocardial infarction|coronary artery disease caused by mutation in MEF2A|coronary artery disease, autosomal dominant, 1	http://purl.obolibrary.org/obo/MONDO_0012011	UMLS:C1842247|http://identifiers.org/mesh/C564258|https://omim.org/entry/608320	
MONDO:0014672	biolink:Disease	osteogenesis imperfecta type 17	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SPARC gene.	DOID:0110338|UMLS:C4225301|Orphanet:216820|OMIM:616507	mondo.json	osteogenesis imperfecta type XVII|SPARC osteogenesis imperfecta|OI17|osteogenesis imperfecta caused by mutation in SPARC|osteogenesis imperfecta, type XVII|osteogenesis imperfecta, type 17	http://purl.obolibrary.org/obo/MONDO_0014672	UMLS:C4225301|https://omim.org/entry/616507|DOID:0110338	
MONDO:0014671	biolink:Disease	neuropathy, hereditary motor and sensory, type 6B	Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene.	UMLS:C4225302|EFO:0009075|OMIM:616505	mondo.json	neuropathy, hereditary motor and sensory, type 6B|HMSN 6B|HMSN6B|CMT6B|Charcot-Marie-Tooth disease, type 6B|neuropathy, hereditary motor and sensory, type VIB|hereditary motor and sensory neuropathy type 6 caused by mutation in SLC25A46|SLC25A46 hereditary motor and sensory neuropathy type 6	http://purl.obolibrary.org/obo/MONDO_0014671	UMLS:C4225302|https://omim.org/entry/616505	
MONDO:0014670	biolink:Disease	lethal congenital contracture syndrome 9	Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene.	OMIM:616503|UMLS:C4225303	mondo.json	lethal congenital contracture syndrome 9|ADGRG6 lethal congenital contracture syndrome|LCCS9|lethal congenital contracture syndrome caused by mutation in ADGRG6|lethal congenital contracture syndrome type 9	http://purl.obolibrary.org/obo/MONDO_0014670	UMLS:C4225303|https://omim.org/entry/616503	
MONDO:0002677	biolink:Disease	conventional fibrosarcoma	A malignant mesenchymal neoplasm composed of fibroblasts, and characterized by collagen production and usually a herringbone architectural pattern.	NCIT:C9429|UMLS:C1333156|DOID:3517	mondo.json	conventional fibrosarcoma|classical fibrosarcoma|classic fibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0002677	UMLS:C1333156|NCIT:C9429|DOID:3517	
MONDO:0000014	biolink:Disease	colorblindness, partial			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000014		
MONDO:0000013	biolink:Disease	obsolete choroidal dystrophy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000013		
MONDO:0002678	biolink:Disease	pediatric fibrosarcoma	A malignant neoplasm arising from the deep soft tissues in children. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	UMLS:C0279981|NCIT:C8088|DOID:3520	mondo.json	childhood fibrosarcoma|fibrosarcoma|pediatric fibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0002678	UMLS:C0279981|NCIT:C8088|DOID:3520	
MONDO:0002679	biolink:Disease	cerebral infarction	An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries.	DOID:3526|ICD9:433.81|NCIT:C50486|ICD9:434.91|MESH:D002544|UMLS:C0007785|ICD9:433.01|SCTID:432504007|ICD9:433.21|ICD9:433.31|SCTID:20059004	mondo.json	telencephalon brain infarction|cerebral ischemia|brain infarction of telencephalon|infarction, cerebral|cerebral, infarction|cerebral infarction|cerebral infarct|CVA - cerebral infarction	http://purl.obolibrary.org/obo/MONDO_0002679	http://identifiers.org/mesh/D002544|NCIT:C50486|DOID:3526|UMLS:C0007785|http://identifiers.org/snomedct/432504007	
MONDO:0000012	biolink:Disease	obsolete choreoathetosis			mondo.json	obsolete choreoathetosis (disease)	http://purl.obolibrary.org/obo/MONDO_0000012		
MONDO:0000011	biolink:Disease	obsolete chondrodysplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000011		
MONDO:0002673	biolink:Disease	obsolete dermatofibrosarcoma protuberans			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002673		
MONDO:0000018	biolink:Disease	obsolete myotonic dystrophy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000018		
HGNC:6091	biolink:NamedThing	INSR			mondo.json		http://identifiers.org/hgnc/6091		
MONDO:0000017	biolink:Disease	obsolete deafness, autosomal recessive			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000017		
MONDO:0002674	biolink:Disease	stricture or kinking of ureter		ICD9:593.3|DOID:3508	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002674	DOID:3508	
MONDO:0002675	biolink:Disease	neurofibrosarcoma	A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with neurofibromatosis 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72)	SCTID:404037002|DOID:3512|MESH:D018319|GARD:0008211	mondo.json	neurosarcoma|neurosarcoma [obs]	http://purl.obolibrary.org/obo/MONDO_0002675	DOID:3512|http://identifiers.org/mesh/D018319	
MONDO:0000016	biolink:Disease	obsolete coronary heart disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000016		
MONDO:0002676	biolink:Disease	adult fibrosarcoma	A malignant mesenchymal neoplasm composed of fibroblasts. It is characterized by collagen production and a herringbone architectural pattern. It is more commonly seen in middle-aged and older adults. It usually affects the deep soft tissues of extremities, trunk, head and neck. Adult fibrosarcomas may recur and metastasize to the lungs and bones.	DOID:3516|UMLS:C0278595|NCIT:C7809	mondo.json	adult fibrosarcoma (disease)|fibrosarcoma (disease) of adults|adult fibrosarcoma|fibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0002676	UMLS:C0278595|DOID:3516|NCIT:C7809	
MONDO:0000015	biolink:Disease	classic complement early component deficiency	A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response.	UMLS:C1285186|GARD:0009526|SCTID:363009005|ICD9:279.8	mondo.json	genetic deficiency of early component of the classical complement pathway	http://purl.obolibrary.org/obo/MONDO_0000015	http://identifiers.org/snomedct/363009005|UMLS:C1285186	gard_rare
MONDO:0002670	biolink:Disease	ampulla of vater adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the hepatopancreatic ampulla	DOID:3502|NCIT:C6650|EFO:0008490|UMLS:C1332243	mondo.json	hepatopancreatic ampulla adenocarcinoma|adenocarcinoma of ampulla of Vater|ampulla of Vater adenocarcinoma|invasive adenocarcinoma of the ampullary region|adenocarcinoma of ampulla of vater|ampullary adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002670	DOID:3502|NCIT:C6650|UMLS:C1332243	
MONDO:0002671	biolink:Disease	signet ring cell breast carcinoma	An invasive breast adenocarcinoma characterized by the presence of malignant epithelial cells with signet ring appearance.	UMLS:C1335964|ONCOTREE:BRSRCC|NCIT:C5175|DOID:3503	mondo.json	signet Ring cell carcinoma of breast|signet Ring cell carcinoma of the breast|primary signet Ring cell carcinoma of breast|primary signet Ring cell breast carcinoma|primary signet Ring cell carcinoma of the breast|breast signet ring cell adenocarcinoma|signet Ring cell breast carcinoma|breast carcinoma with signet ring|mammary signet Ring cell carcinoma|primary SRC carcinoma of breast|primary SRC carcinoma of the breast|SRC carcinoma of breast|SRC carcinoma of the breast|signet ring cell carcinoma of breast|SRC breast carcinoma|primary mammary signet Ring cell carcinoma|primary SRC breast carcinoma|breast signet ring cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002671	DOID:3503|NCIT:C5175|UMLS:C1335964	
MONDO:0002672	biolink:Disease	acinar prostate adenocarcinoma, signet ring variant	A morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of signet ring malignant cells.	UMLS:C1335520|NCIT:C5535|DOID:3504	mondo.json	prostate signet ring cell carcinoma|prostate signet Ring cell carcinoma|signet Ring cell carcinoma of the prostate|acinar prostate adenocarcinoma, signet Ring variant|prostate gland signet ring cell carcinoma|prostate signet ring cell adenocarcinoma|signet Ring cell carcinoma of prostate	http://purl.obolibrary.org/obo/MONDO_0002672	DOID:3504|NCIT:C5535|UMLS:C1335520	
MONDO:0000010	biolink:Disease	obsolete cerebrooculofacioskeletal syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000010		
MONDO:0012003	biolink:Disease	autosomal recessive nonsyndromic hearing loss 39	An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness.	OMIM:608265|NCIT:C129874|MESH:C564265|DOID:0110497|UMLS:C1842342	mondo.json	HGF autosomal recessive nonsyndromic deafness|autosomal recessive deafness 39|autosomal recessive nonsyndromic deafness caused by mutation in HGF|deafness, autosomal recessive 39|deafness, autosomal recessive type 39|autosomal recessive nonsyndromic deafness type 39|DFNB39|autosomal recessive nonsyndromic deafness 39	http://purl.obolibrary.org/obo/MONDO_0012003	NCIT:C129874|http://identifiers.org/mesh/C564265|UMLS:C1842342|DOID:0110497|https://omim.org/entry/608265	clingen
MONDO:0014666	biolink:Disease	hypomyelinating leukodystrophy 11	Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene.	UMLS:C4225305|DOID:0060792|OMIM:616494	mondo.json	leukodystrophy, hypomyelinating, 11|POLR1C leukodystrophy|leukodystrophy caused by mutation in POLR1C|hypomyelinating leukodystrophy type 11|HLD11|leukodystrophy, hypomyelinating, type 11	http://purl.obolibrary.org/obo/MONDO_0014666	UMLS:C4225305|https://omim.org/entry/616494|DOID:0060792	
MONDO:0012004	biolink:Disease	parathyroid gland carcinoma	A very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors.	SCTID:255037004|EFO:1000456|ICD9:194.1|GARD:0007329|OMIM:608266|DOID:1540|Orphanet:143|NCIT:C4906|ONCOTREE:PTHC	mondo.json	carcinoma of the parathyroid|malignant neoplasm of parathyroid gland|carcinoma of parathyroid|parathyroid gland carcinoma|PRTC|parathyroid gland neoplasm|parathyroid gland cancer|parathyroid carcinoma|malignant neoplasm of the parathyroid|carcinoma of parathyroid gland|parathyroid adenocarcinoma|parathyroid neoplasm|cancer of the parathyroid gland|cancer of parathyroid gland|adenocarcinoma of the parathyroid gland|adenocarcinoma of parathyroid gland|parathyroid gland adenocarcinoma|adenocarcinoma of the parathyroid|carcinoma of the parathyroid gland|adenocarcinoma of parathyroid|parathyroid cancer	http://purl.obolibrary.org/obo/MONDO_0012004	NCIT:C4906|Orphanet:143|DOID:1540|https://omim.org/entry/608266|http://identifiers.org/snomedct/255037004	ordo_disease
MONDO:0014665	biolink:Disease	Charcot-Marie-Tooth disease axonal type 2V	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene.	UMLS:C4225306|OMIM:616491|Orphanet:447964|DOID:0110178	mondo.json	hereditary adult-onset painful axonal polyneuropathy|autosomal dominant axonal Charcot-Marie-Tooth disease type 2V|NAGLU Charcot-Marie-Tooth disease|Charcot-Marie-Tooth neuropathy type 2V|Charcot-Marie-Tooth neuropathy, type 2V|Charcot-Marie-Tooth disease caused by mutation in NAGLU|Charcot-Marie-Tooth disease, axonal, type 2V|CMT2V|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V|autosomal dominant Charcot-Marie-Tooth disease type 2V|autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation	http://purl.obolibrary.org/obo/MONDO_0014665	UMLS:C4225306|https://omim.org/entry/616491|DOID:0110178|Orphanet:447964	ordo_disease
MONDO:0014664	biolink:Disease	Joubert syndrome 23	Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene.	OMIM:616490|UMLS:C4084822|DOID:0110992	mondo.json	Joubert syndrome type 23|Joubert syndrome caused by mutation in KIAA0586|JBTS23|Joubert syndrome 23|KIAA0586 Joubert syndrome	http://purl.obolibrary.org/obo/MONDO_0014664	https://omim.org/entry/616490|DOID:0110992|UMLS:C4084822	
MONDO:0012001	biolink:Disease	mandibulofacial dysostosis with ptosis, autosomal dominant		MESH:C564267|OMIM:608257|UMLS:C1842349	mondo.json	mandibulofacial dysostosis with ptosis, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012001	http://identifiers.org/mesh/C564267|UMLS:C1842349|https://omim.org/entry/608257	
MONDO:0012002	biolink:Disease	autosomal recessive nonsyndromic hearing loss 40	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1.	UMLS:C1842345|OMIM:608264|MESH:C564266|DOID:0110499	mondo.json	autosomal recessive nonsyndromic deafness type 40|deafness, autosomal recessive 40|DFNB40|autosomal recessive nonsyndromic deafness 40|autosomal recessive deafness 40	http://purl.obolibrary.org/obo/MONDO_0012002	http://identifiers.org/mesh/C564266|UMLS:C1842345|DOID:0110499|https://omim.org/entry/608264	
MONDO:0014663	biolink:Disease	Silver-Russell syndrome 3		OMIM:616489|UMLS:C4225307	mondo.json	GRDF|SRS3|growth restriction, severe, with distinctive facies	http://purl.obolibrary.org/obo/MONDO_0014663	UMLS:C4225307|https://omim.org/entry/616489	
HGNC:13444	biolink:NamedThing	SLC2A10			mondo.json		http://identifiers.org/hgnc/13444		
MONDO:0012007	biolink:Disease	scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities		OMIM:608281|UMLS:C1842315|MESH:C564262	mondo.json	anomalous pulmonary Venous return, multiple Cardiac malformations, and craniofacial and central nervous system abnormalities|scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities	http://purl.obolibrary.org/obo/MONDO_0012007	UMLS:C1842315|http://identifiers.org/mesh/C564262|https://omim.org/entry/608281	
MONDO:0014669	biolink:Disease	cone-rod dystrophy 21	Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene.	UMLS:C4049066|OMIM:616502|UMLS:CN231743	mondo.json	retinal dystrophy with early macular involvement|CORD21|cone-rod dystrophy type 21|DRAM2 cone-rod dystrophy|cone-rod dystrophy 21|cone-rod dystrophy caused by mutation in DRAM2	http://purl.obolibrary.org/obo/MONDO_0014669	UMLS:CN231743|https://omim.org/entry/616502|UMLS:C4049066	
MONDO:0012008	biolink:Disease	Lelis syndrome	Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.	SCTID:719429003|UMLS:C1842307|GARD:0010367|OMIM:608290|MESH:C564261|Orphanet:140936	mondo.json	Lelis syndrome|ectodermal dysplasia, hypohidrotic, with acanthosis nigricans|ectodermal dysplasia-acanthosis nigricans syndrome	http://purl.obolibrary.org/obo/MONDO_0012008	http://identifiers.org/snomedct/719429003|Orphanet:140936|UMLS:C1842307|http://identifiers.org/mesh/C564261|https://omim.org/entry/608290	ordo_malformation_syndrome|gard_rare
MONDO:0014668	biolink:Disease	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4	Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene.	UMLS:C4225304|OMIM:616501|DOID:0080360	mondo.json	COA6 fatal infantile encephalocardiomyopathy|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4|fatal infantile encephalocardiomyopathy caused by mutation in COA6|mitochondrial complex IV deficiency, nuclear type 13|cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 4|CEMCOX4	http://purl.obolibrary.org/obo/MONDO_0014668	DOID:0080360|UMLS:C4225304|https://omim.org/entry/616501	
MONDO:0012005	biolink:Disease	growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy		UMLS:C1842321|MESH:C564264|OMIM:608278	mondo.json	growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy|growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy	http://purl.obolibrary.org/obo/MONDO_0012005	UMLS:C1842321|http://identifiers.org/mesh/C564264|https://omim.org/entry/608278	
HGNC:13446	biolink:NamedThing	SLC2A9			mondo.json		http://identifiers.org/hgnc/13446		
MONDO:0014667	biolink:Disease	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3	Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene.	DOID:0080359|OMIM:616500|UMLS:C4225154	mondo.json	COA5 fatal infantile encephalocardiomyopathy|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3|fatal infantile encephalocardiomyopathy caused by mutation in COA5|mitochondrial complex IV, deficiency, nuclear type 9|cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 3|CEMCOX3	http://purl.obolibrary.org/obo/MONDO_0014667	DOID:0080359|UMLS:C4225154|https://omim.org/entry/616500	
MONDO:0012006	biolink:Disease	craniosynostosis with ocular abnormalities and hallucal defects		UMLS:C1842316|MESH:C564263|OMIM:608279	mondo.json	craniosynostosis with ocular abnormalities and hallucal defects	http://purl.obolibrary.org/obo/MONDO_0012006	UMLS:C1842316|http://identifiers.org/mesh/C564263|https://omim.org/entry/608279	
GO:0036293	biolink:NamedThing	response to decreased oxygen levels	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting a decline in the level of oxygen.		mondo.json	response to lowered oxygen levels	http://purl.obolibrary.org/obo/GO_0036293		
MONDO:0000009	biolink:Disease	inherited bleeding disorder, platelet-type		UMLS:C0005818|DOID:2218|OMIMPS:231200	mondo.json	platelet disorder|blood platelet disease|bleeding disorder, platelet-type|thrombocytopathy	http://purl.obolibrary.org/obo/MONDO_0000009	UMLS:C0005818|https://omim.org/phenotypicSeries/PS231200|DOID:2218	
MONDO:0000008	biolink:Disease	obsolete bare lymphocyte syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000008		
MONDO:0014662	biolink:Disease	congenital insensitivity to pain-hypohidrosis syndrome	A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34.	Orphanet:478664|OMIM:616488|DOID:0070153|UMLS:C4225308	mondo.json	CIP-hypohidrosis syndrome|hereditary sensory and autonomic neuropathy type 8|HSAN 8|HSAN8|neuropathy, hereditary sensory and autonomic, type VIII|hereditary sensory and autonomic neuropathy type VIII|neuropathy, hereditary sensory and autonomic, type 8	http://purl.obolibrary.org/obo/MONDO_0014662	Orphanet:478664|UMLS:C4225308|https://omim.org/entry/616488|DOID:0070153	ordo_disease
MONDO:0012000	biolink:Disease	specific phobia	An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable.	ICD9:300.29|MESH:C562465|OMIM:608251|EFO:1001918|NCIT:C35284|DOID:599|SCTID:54587008	mondo.json	simple phobia|phobia, simple|phobia, specific	http://purl.obolibrary.org/obo/MONDO_0012000	NCIT:C35284|DOID:599|http://identifiers.org/snomedct/54587008|http://identifiers.org/mesh/C562465|https://omim.org/entry/608251	
MONDO:0014661	biolink:Disease	epidermolysis bullosa simplex with nail dystrophy		OMIM:616487|UMLS:C4225309	mondo.json	EBSND|epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive|epidermolysis bullosa simplex with nail dystrophy	http://purl.obolibrary.org/obo/MONDO_0014661	UMLS:C4225309|https://omim.org/entry/616487	
MONDO:0014660	biolink:Disease	microcephaly 15, primary, autosomal recessive		DOID:0070277|UMLS:C4225310|OMIM:616486	mondo.json	microcephaly 15, primary, autosomal recessive|neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities|MCPH15	http://purl.obolibrary.org/obo/MONDO_0014660	UMLS:C4225310|https://omim.org/entry/616486|DOID:0070277	
MONDO:0002688	biolink:Disease	duodenal obstruction	Blockage of the normal flow of stomach contents through the duodenum.	UMLS:C0013292|DOID:3558|MESH:D004380|EFO:1000908|SCTID:95532008	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002688	UMLS:C0013292|DOID:3558|http://identifiers.org/snomedct/95532008|http://identifiers.org/mesh/D004380	
MONDO:0000025	biolink:Disease	obsolete familial cold autoinflammatory syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000025		
MONDO:0002689	biolink:Disease	obsolete pseudomyxoma peritonei			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002689		
MONDO:0000024	biolink:Disease	obsolete exostoses, multiple			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000024		
MONDO:0000023	biolink:Disease	infantile liver failure		OMIMPS:615438|Orphanet:464724|UMLS:CN228161	mondo.json	infantile liver failure syndrome|fever-associated acute infantile liver failure syndrome|liver failure, infantile	http://purl.obolibrary.org/obo/MONDO_0000023	Orphanet:464724|https://omim.org/phenotypicSeries/PS615438|UMLS:CN228161	
MONDO:0000022	biolink:Disease	nocturnal enuresis	Urination during sleep.	MESH:D053206|NCIT:C118172	mondo.json	bedwetting|sleep enuresis|enuresis, nocturnal	http://purl.obolibrary.org/obo/MONDO_0000022	http://identifiers.org/mesh/D053206|NCIT:C118172	
MONDO:0002684	biolink:Disease	atypical choroid plexus papilloma	A choroid plexus papilloma characterized by increased mitotic activity.	DOID:3544|UMLS:C1266176|NCIT:C53686|ICDO:9390/1|ONCOTREE:ACPP|Orphanet:251902	mondo.json	atypical papilloma of choroid plexus|atypical choroid plexus papilloma|ACPP|atypical choroid plexus papilloma (morphologic abnormality)|atypical CPP	http://purl.obolibrary.org/obo/MONDO_0002684	DOID:3544|Orphanet:251902|NCIT:C53686|UMLS:C1266176	ordo_disease
MONDO:0000029	biolink:Disease	obsolete corticosterone methyloxidase deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000029		
MONDO:0002685	biolink:Disease	childhood choroid plexus carcinoma	A choroid plexus carcinoma that occurs during childhood.	DOID:3545|UMLS:C0280623|NCIT:C124292	mondo.json	pediatric choroid plexus carcinoma|childhood choroid plexus neoplasm|childhood choroid plexus carcinoma|choroid plexus carcinoma of childhood|childhood choroid plexus cancer	http://purl.obolibrary.org/obo/MONDO_0002685	DOID:3545|UMLS:C0280623|NCIT:C124292	
MONDO:0000028	biolink:Disease	obsolete epilepsy, hot water			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000028		
HGNC:25439	biolink:NamedThing	TANGO2			mondo.json		http://identifiers.org/hgnc/25439		
MONDO:0000027	biolink:Disease	obsolete epilepsy, absence			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000027		
MONDO:0002686	biolink:Disease	obsolete mast-cell sarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002686		
MONDO:0002687	biolink:Disease	superior mesenteric artery syndrome	Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum. Symptoms vary based on severity, but can be severely debilitating. Symptoms may include abdominal pain, fullness, nausea, vomiting, and/or weight loss. SMAS typically is due toloss of the mesenteric fat pad (fatty tissue that surrounds the superior mesenteric artery). The most common cause is significant weight loss caused by medical disorders, psychological disorders, or surgery. In younger patients, it most commonly occurs after corrective spinal surgery for scoliosis. Delays in diagnosis may result in significant complications. Depending on the cause and severity, treatment options may include addressing the underlying cause, dietary changes (small feedings or a liquid diet), and/or surgery. Symptoms may not resolve completely after treatment.	DOID:3557|EFO:1001201|UMLS:C0038828|GARD:0007712|MESH:D013478|NCIT:C85175|SCTID:197006009	mondo.json	vascular compression of the duodenum|superior mesenteric artery syndromic disease|Wilkie syndrome|Cast syndrome|superior mesenteric artery syndrome|Arteriomesenteric duodenal compression syndrome|syndromic disease of superior mesenteric artery	http://purl.obolibrary.org/obo/MONDO_0002687	http://identifiers.org/mesh/D013478|UMLS:C0038828|DOID:3557|NCIT:C85175|http://identifiers.org/snomedct/197006009	gard_rare
MONDO:0000026	biolink:Disease	obsolete Fanconi renotubular syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000026		
MONDO:0002680	biolink:Disease	chronic wasting disease	A transmissible spongiform encephalopathy (prion disease) of deer and elk characterized by chronic weight loss leading to death. It is thought to spread by direct contact between animals or through environmental contamination with the prion protein (prions).	DOID:3530|MESH:D034081|UMLS:C1135993	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002680	DOID:3530|http://identifiers.org/mesh/D034081|UMLS:C1135993	
MONDO:0002681	biolink:Disease	choroid plexus cancer	A malignant neoplasm involving the choroid plexus	DOID:3540|NCIT:C4533	mondo.json	choroid plexus neoplasm|malignant choroid plexus tumors|malignant choroid plexus neoplasms|cancer of choroid plexus|malignant tumor of choroid plexus|malignant tumor of the choroid plexus|choroid plexus cancer|tumor of choroid plexus|malignant neoplasm of choroid plexus|malignant choroid plexus neoplasm|malignant choroid plexus tumor|malignant neoplasm of the choroid plexus	http://purl.obolibrary.org/obo/MONDO_0002681	DOID:3540|NCIT:C4533	
MONDO:0002682	biolink:Disease	cerebral ventricle cancer	A neoplasm that involves a brain ventricle. It may be a primary neoplasm arising from a brain ventricle, a metastasis from a distant anatomic site, or an extension of an invasive neoplasm from an adjacent brain structure.	NCIT:C2937|DOID:3541|SCTID:126958000|EFO:0007201|GARD:0006025|ICD9:191.5|MESH:D002551	mondo.json	intraventricular brain neoplasms|intraventricular brain neoplasm|brain ventricle cancer|malignant neoplasm of brain ventricle|intraventricular tumor of the brain|intraventricular neoplasms|malignant brain ventricle neoplasm|intraventricular tumor of brain|intraventricular neoplasm of the brain|cerebral ventricle neoplasm|cancer of brain ventricle|brain neoplasms, intraventricular|intraventricular neoplasm of brain|intraventricular brain tumor	http://purl.obolibrary.org/obo/MONDO_0002682	DOID:3541|http://identifiers.org/snomedct/126958000|http://identifiers.org/mesh/D002551|NCIT:C2937	gard_rare
MONDO:0014649	biolink:Disease	intellectual disability, autosomal recessive 50	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene.	OMIM:616460	mondo.json	EDC3 autosomal recessive non-syndromic intellectual disability|autosomal recessive non-syndromic intellectual disability caused by mutation in EDC3|intellectual disability, autosomal recessive 50|mental retardation, autosomal recessive type 50|intellectual developmental disorder, autosomal recessive 50|intellectual disability, autosomal recessive type 50|mental retardation, autosomal recessive 50|MRT50	http://purl.obolibrary.org/obo/MONDO_0014649	https://omim.org/entry/616460	
MONDO:0002683	biolink:Disease	adult choroid plexus neoplasm	A choroid plexus neoplasm that occurs in an adult.	DOID:3542|UMLS:C0796430|NCIT:C8568	mondo.json	adult choroid plexus neoplasm|neoplasm of adult choroid plexus|choroid plexus neoplasm|choroid plexus neoplasm of adults|adult choroid plexus cancer|adult choroid plexus tumor|neoplasm of the adult choroid plexus|tumor of adult choroid plexus|tumor of the adult choroid plexus	http://purl.obolibrary.org/obo/MONDO_0002683	NCIT:C8568|DOID:3542|UMLS:C0796430	
MONDO:0000021	biolink:Disease	obsolete short-rib thoracic dysplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000021		
MONDO:0000020	biolink:Disease	obsolete elliptocytosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000020		
MONDO:0036025	biolink:Disease	toxicity to dolutegravir		Orphanet:596744	mondo.json		http://purl.obolibrary.org/obo/MONDO_0036025	Orphanet:596744	ordo_disorder
MONDO:0014655	biolink:Disease	obsolete Bethlem myopathy 2			mondo.json		http://purl.obolibrary.org/obo/MONDO_0014655		
MONDO:0014654	biolink:Disease	Ullrich congenital muscular dystrophy 2	Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene.	OMIM:616470|UMLS:C4225314	mondo.json	Ullrich congenital muscular dystrophy caused by mutation in COL12A1|Ullrich congenital muscular dystrophy 2|Ullrich congenital muscular dystrophy type 2|UCMD2|COL12A1 Ullrich congenital muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0014654	UMLS:C4225314|https://omim.org/entry/616470	
MONDO:0014653	biolink:Disease	retinitis pigmentosa 72	Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene.	DOID:0110395|ICD10CM:H35.5|UMLS:C4225315|OMIM:616469	mondo.json	RP72|retinitis pigmentosa 72|retinitis pigmentosa caused by mutation in ZNF408|retinitis pigmentosa type 72|ZNF408 retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0014653	UMLS:C4225315|https://omim.org/entry/616469|DOID:0110395	
MONDO:0014652	biolink:Disease	exudative vitreoretinopathy 6	Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the ZNF408 gene.	UMLS:C4225316|OMIM:616468|DOID:0111410	mondo.json	exudative vitreoretinopathy 6|exudative vitreoretinopathy type 6|exudative vitreoretinopathy caused by mutation in ZNF408|EVR6|ZNF408 exudative vitreoretinopathy	http://purl.obolibrary.org/obo/MONDO_0014652	UMLS:C4225316|DOID:0111410|https://omim.org/entry/616468	
MONDO:0014659	biolink:Disease	infantile liver failure syndrome 2	Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene.	OMIM:616483|GARD:0013113|UMLS:CN232144	mondo.json	infantile liver failure syndrome 2|ILFS2|infantile liver failure caused by mutation in NBAS|infantile liver failure syndrome type 2|NBAS infantile liver failure	http://purl.obolibrary.org/obo/MONDO_0014659	UMLS:CN232144|https://omim.org/entry/616483	ordo_disease
MONDO:0014658	biolink:Disease	severe achondroplasia-developmental delay-acanthosis nigricans syndrome	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).	Orphanet:85165|GARD:0009443|SCTID:699870002|ICD10CM:Q77.4|OMIM:616482|ICD9:757.39|PMID:10053006|DOID:0111158|ICD9:783.40	mondo.json	severe achondroplasia with developmental delay and acanthosis nigricans|SADDAN|achondroplasia, severe, with developmental delay and acanthosis nigricans|SADDAN dysplasia	http://purl.obolibrary.org/obo/MONDO_0014658	Orphanet:85165|DOID:0111158|https://omim.org/entry/616482|http://identifiers.org/snomedct/699870002	ordo_disease
MONDO:0014657	biolink:Disease	primary ciliary dyskinesia 32	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene.	DOID:0110603|UMLS:C4225311|OMIM:616481	mondo.json	ciliary dyskinesia, primary, 32, without situs inversus|RSPH3 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 32|primary ciliary dyskinesia caused by mutation in RSPH3|primary ciliary dyskinesia 32 without situs inversus|ciliary dyskinesia, primary, 32|primary ciliary dyskinesia type 32|CILD32	http://purl.obolibrary.org/obo/MONDO_0014657	UMLS:C4225311|https://omim.org/entry/616481|DOID:0110603	
MONDO:0014656	biolink:Disease	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene.	DOID:0111515|UMLS:C4225312|OMIM:616479	mondo.json	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 2|PEOB2|RNASEH1 progressive external ophthalmoplegia with mitochondrial DNA deletions|progressive external ophthalmoplegia, autosomal recessive 2|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RNASEH1	http://purl.obolibrary.org/obo/MONDO_0014656	UMLS:C4225312|DOID:0111515|https://omim.org/entry/616479	
MONDO:0000019	biolink:Disease	obsolete ectodermal dysplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000019		
MONDO:0014651	biolink:Disease	acrofacial dysostosis Cincinnati type	Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene.	UMLS:C4225317|DOID:0060353|OMIM:616462	mondo.json	acrofacial dysostosis, Cincinnati type|acrofacial dysostosis caused by mutation in POLR1A|AFDCIN|POLR1A acrofacial dysostosis	http://purl.obolibrary.org/obo/MONDO_0014651	UMLS:C4225317|https://omim.org/entry/616462|DOID:0060353	
MONDO:0014650	biolink:Disease	familial temporal lobe epilepsy 8	A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13.	UMLS:C4225318|DOID:0060754|OMIM:616461	mondo.json	familial temporal lobe epilepsy type 8|ETL8|epilepsy, familial temporal lobe, 8|epilepsy, familial temporal lobe, type 8	http://purl.obolibrary.org/obo/MONDO_0014650	UMLS:C4225318|https://omim.org/entry/616461|DOID:0060754	
MONDO:0000079	biolink:Disease	nephrolithiasis/osteoporosis, hypophosphatemic		OMIMPS:612286|DOID:0080655	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000079	https://omim.org/phenotypicSeries/PS612286|DOID:0080655	
HGNC:25403	biolink:NamedThing	SASS6			mondo.json		http://identifiers.org/hgnc/25403		
MONDO:0000078	biolink:Disease	acrocephalopolysyndactyly	A common presentation of craniosynostosis and polysyndactyly.	SCTID:205260006|UMLS:C0687154	mondo.json	ACPS	http://purl.obolibrary.org/obo/MONDO_0000078	http://identifiers.org/snomedct/205260006|UMLS:C0687154	
MONDO:0000077	biolink:Disease	obsolete nystagmus			mondo.json	obsolete nystagmus (disease)	http://purl.obolibrary.org/obo/MONDO_0000077		
UBERON:0035480	biolink:AnatomicalEntity	surface of prostate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035480		
UBERON:0035483	biolink:AnatomicalEntity	left suprarenal vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035483		
MONDO:0000072	biolink:Disease	obsolete myopathy, reducing body, X-linked			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000072		
MONDO:0000071	biolink:Disease	obsolete myopathy, myofibrillar			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000071		
MONDO:0000070	biolink:Disease	mycobacterium tuberculosis, susceptibility			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000070		predisposition
MONDO:0000076	biolink:Disease	obsolete neuropathy, hereditary sensory and autonomic			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000076		
UBERON:0035489	biolink:AnatomicalEntity	branch of basilar artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035489		
MONDO:0000075	biolink:Disease	neuronopathy, distal hereditary motor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000075		
MONDO:0000074	biolink:Disease	obsolete neurodegeneration with brain iron accumulation			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000074		
MONDO:0000073	biolink:Disease	obsolete nail disorder, nonsyndromic congenital			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000073		
MONDO:0012069	biolink:Disease	keratoconus 3		UMLS:C1837809|OMIM:608586|MESH:C563900	mondo.json	KTCN3|keratoconus 3	http://purl.obolibrary.org/obo/MONDO_0012069	UMLS:C1837809|http://identifiers.org/mesh/C563900|https://omim.org/entry/608586	
MONDO:0012067	biolink:Disease	asthma-related traits, susceptibility to, 2	Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the NPSR1 gene.	OMIM:608584|UMLS:C1837811	mondo.json	asthma-related traits, susceptibility to, type 2|inherited susceptibility to asthma caused by mutation in NPSR1|asthma-related traits, susceptibility to, 2|asthma, susceptibility to, 2|ASRT2|NPSR1 inherited susceptibility to asthma	http://purl.obolibrary.org/obo/MONDO_0012067	UMLS:C1837811|https://omim.org/entry/608584	predisposition
MONDO:0012068	biolink:Disease	brachial palsy, familial congenital		MESH:C563901|OMIM:608585|UMLS:C1837810	mondo.json	brachial palsy, familial congenital	http://purl.obolibrary.org/obo/MONDO_0012068	UMLS:C1837810|http://identifiers.org/mesh/C563901|https://omim.org/entry/608585	
HGNC:13429	biolink:NamedThing	RLIM			mondo.json		http://identifiers.org/hgnc/13429		
MONDO:0012061	biolink:Disease	familial sick sinus syndrome	Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.	OMIMPS:608567|Orphanet:166282|MESH:C563907|MedDRA:10040639|SCTID:233913007	mondo.json	familial sinus node dysfunction|hereditary sick sinus syndrome|sick sinus syndrome 1, autosomal recessive|SSS1	http://purl.obolibrary.org/obo/MONDO_0012061	https://omim.org/phenotypicSeries/PS608567|Orphanet:166282|http://identifiers.org/snomedct/233913007|http://identifiers.org/mesh/C563907	ordo_disease
MONDO:0012062	biolink:Disease	dilated cardiomyopathy 1O	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene.	OMIM:608569|DOID:0110451|UMLS:C1837839|MESH:C563906	mondo.json	cardiomyopathy, dilated, type 1O|ABCC9 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1O|familial isolated dilated cardiomyopathy caused by mutation in ABCC9|CMD1O|cardiomyopathy, dilated, with ventricular tachycardia|dilated cardiomyopathy with ventricular tachycardia|dilated cardiomyopathy type 1O	http://purl.obolibrary.org/obo/MONDO_0012062	http://identifiers.org/mesh/C563906|https://omim.org/entry/608569|DOID:0110451|UMLS:C1837839	
HGNC:13420	biolink:NamedThing	PRUNE1			mondo.json		http://identifiers.org/hgnc/13420		
MONDO:0012060	biolink:Disease	autosomal recessive nonsyndromic hearing loss 35	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene.	DOID:0110493|OMIM:608565|UMLS:C1837857|MESH:C563908	mondo.json	deafness, autosomal recessive type 35|autosomal recessive nonsyndromic deafness type 35|autosomal recessive deafness 35|ESRRB autosomal recessive nonsyndromic deafness|DFNB35|autosomal recessive nonsyndromic deafness 35|autosomal recessive nonsyndromic deafness caused by mutation in ESRRB|deafness, autosomal recessive 35	http://purl.obolibrary.org/obo/MONDO_0012060	https://omim.org/entry/608565|DOID:0110493|UMLS:C1837857|http://identifiers.org/mesh/C563908	
MONDO:0012065	biolink:Disease	obsolete Stevens-Johnson syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0012065		
MONDO:0012066	biolink:Disease	atrial fibrillation, familial, 1		UMLS:C1843687|OMIM:608583|MESH:C538261	mondo.json	ATFB1|atrial fibrillation, familial, 1|atrial fibrillation, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012066	https://omim.org/entry/608583|http://identifiers.org/mesh/C538261|UMLS:C1843687	
MONDO:0012063	biolink:Disease	ulnar/fibula ray defect-brachydactyly syndrome	Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.	SCTID:719843001|OMIM:608571|Orphanet:52056|MESH:C563905	mondo.json	ulnar/fibular RAY defect and brachydactyly|Morava-Mehes syndrome	http://purl.obolibrary.org/obo/MONDO_0012063	http://identifiers.org/mesh/C563905|http://identifiers.org/snomedct/719843001|https://omim.org/entry/608571|Orphanet:52056	ordo_malformation_syndrome
MONDO:0012064	biolink:Disease	choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome.	GARD:0010041|OMIM:608572|Orphanet:1200|UMLS:C1835913|MESH:C563682	mondo.json	choanal atresia deafness cardiac defects dysmorphism|Burn-McKeown syndrome|BMKS|oculootofacial dysplasia|bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance	http://purl.obolibrary.org/obo/MONDO_0012064	http://identifiers.org/mesh/C563682|https://omim.org/entry/608572|UMLS:C1835913|Orphanet:1200	gard_rare|ordo_malformation_syndrome
OBO:ECTO_9001334	biolink:NamedThing	exposure to primary alcohol	An exposure to primary alcohol.		mondo.json	exposure to primary alcohol	http://purl.obolibrary.org/obo/ECTO_9001334		
HGNC:25415	biolink:NamedThing	PPM1K			mondo.json		http://identifiers.org/hgnc/25415		
MONDO:0000089	biolink:Disease	obsolete age-related hearing impairment			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000089		
MONDO:0000088	biolink:Disease	precocious puberty	Unusually early sexual maturity.	Orphanet:95708|ICD10CM:E30.1|MedDRA:10058084|MedDRA:10044701|ICD9:259.1|UMLS:C0034013|NCIT:C79704|SCTID:400179000|MESH:D011629|HP:0000826|GARD:0007446	mondo.json	idiopathic sexual precocity|sexual precocity|familial precocious puberty|pubertas praecox	http://purl.obolibrary.org/obo/MONDO_0000088	Orphanet:95708|NCIT:C79704|http://identifiers.org/mesh/D011629|UMLS:C0034013|http://purl.bioontology.org/ontology/ICD10CM/E30.1|http://identifiers.org/snomedct/400179000	ordo_group_of_disorders|gard_rare|disease_grouping
ENVO:01001554	biolink:NamedThing	surface layer of a water body	A water surface that is part of a water body.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001554		
HGNC:25419	biolink:NamedThing	ARL13B			mondo.json		http://identifiers.org/hgnc/25419		
MONDO:0000083	biolink:Disease	obsolete Griscelli syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000083		
UBERON:0035495	biolink:AnatomicalEntity	hilum of lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035495		
MONDO:0000082	biolink:Disease	pelvic organ prolapse	Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence.	EFO:0004710|SCTID:237113009|UMLS:C0877015|MESH:D056887	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000082	http://identifiers.org/mesh/D056887|UMLS:C0877015|http://identifiers.org/snomedct/237113009	
MONDO:0000081	biolink:Disease	obsolete ovarian dysgenesis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000081		
UBERON:0035498	biolink:AnatomicalEntity	gastrophrenic ligament			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035498		
MONDO:0000080	biolink:Disease	obsolete Oto-palato-digital syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000080		
MONDO:0000087	biolink:Disease	polymicrogyria	A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction.	NCIT:C116936|GARD:0012271|Orphanet:35981|UMLS:C0266464|MESH:D065706|SCTID:4945003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000087	http://identifiers.org/snomedct/4945003|Orphanet:35981|UMLS:C0266464|NCIT:C116936|http://identifiers.org/mesh/D065706	ordo_group_of_disorders|disease_grouping
MONDO:0000086	biolink:Disease	obsolete polydactyly, preaxial			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000086		
MONDO:0000085	biolink:Disease	obsolete pituitary hormone deficiency, combined			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000085		
MONDO:0000084	biolink:Disease	obsolete pigmented nodular adrenocortical disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000084		
MONDO:0012058	biolink:Disease	myocardial infarction, susceptibility to, 2		OMIM:608557|UMLS:C1837871	mondo.json	myocardial infarction, susceptibility to, type 2|Mci2|myocardial infarction, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0012058	UMLS:C1837871|https://omim.org/entry/608557	predisposition
MONDO:0012059	biolink:Disease	polydactyly, postaxial, type A4		OMIM:608562|UMLS:C1837868|MESH:C563909	mondo.json	postaxial polydactyly, type A4|Papa4|polydactyly, postaxial, type A4	http://purl.obolibrary.org/obo/MONDO_0012059	UMLS:C1837868|http://identifiers.org/mesh/C563909|https://omim.org/entry/608562	
OBO:ECTO_9001347	biolink:NamedThing	exposure to sodium chloride	An exposure to sodium chloride.		mondo.json	exposure to sodium chloride	http://purl.obolibrary.org/obo/ECTO_9001347		
MONDO:0012056	biolink:Disease	Leber congenital amaurosis 9	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene.	DOID:0110005|ICD10CM:H35.5|OMIM:608553|MESH:C536603|GARD:0009491	mondo.json	NMNAT1 Leber congenital amaurosis|LCA9|Leber congenital amaurosis type 9|Leber congenital amaurosis caused by mutation in NMNAT1|Leber congenital amaurosis 9|amaurosis congenita of Leber, type 9	http://purl.obolibrary.org/obo/MONDO_0012056	https://omim.org/entry/608553|http://identifiers.org/mesh/C536603|DOID:0110005	gard_rare
MONDO:0012057	biolink:Disease	legionnaire disease, susceptibility to		GARD:0006876|OMIM:608556	mondo.json	susceptibility to legionnaire disease|legionnaire disease, susceptibility to|Legionella infection|legionnaire's disease	http://purl.obolibrary.org/obo/MONDO_0012057	https://omim.org/entry/608556	predisposition
HGNC:13433	biolink:NamedThing	ROBO3			mondo.json		http://identifiers.org/hgnc/13433		
HGNC:13436	biolink:NamedThing	RPGRIP1			mondo.json		http://identifiers.org/hgnc/13436		
MONDO:0012050	biolink:Disease	major depressive disorder 1		UMLS:C1837929|OMIM:608520|MESH:C563919	mondo.json	major depressive disorder 1|unipolar depression 1|MDD1|major depressive disorder type 1	http://purl.obolibrary.org/obo/MONDO_0012050	UMLS:C1837929|http://identifiers.org/mesh/C563919|https://omim.org/entry/608520	
MONDO:0012051	biolink:Disease	periodontitis, aggressive, 2		UMLS:C1969478|MESH:C566946|OMIM:608526	mondo.json	periodontitis, aggressive, type 2|periodontitis, aggressive, 2	http://purl.obolibrary.org/obo/MONDO_0012051	https://omim.org/entry/608526|http://identifiers.org/mesh/C566946|UMLS:C1969478	
MONDO:0012054	biolink:Disease	schizophrenia 12	A schizophrenia that has material basis in a mutation on chromosome 1p36.2.	OMIM:608543|UMLS:C1837893|DOID:0070088	mondo.json	schizophrenia susceptibility locus, chromosome 1P-related|Sczd12|SCZD12|schizophrenia type 12|schizophrenia 12	http://purl.obolibrary.org/obo/MONDO_0012054	UMLS:C1837893|DOID:0070088|https://omim.org/entry/608543	
MONDO:0012055	biolink:Disease	Larsen-like osseous dysplasia-short stature syndrome	Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.	OMIM:608545|MESH:C563914|UMLS:C1837884|Orphanet:2370	mondo.json	Lrsl|Larsen-like syndrome|Larsen-like syndrome, isolated cases	http://purl.obolibrary.org/obo/MONDO_0012055	UMLS:C1837884|http://identifiers.org/mesh/C563914|https://omim.org/entry/608545|Orphanet:2370	ordo_malformation_syndrome
MONDO:0012052	biolink:Disease	ALG1-congenital disorder of glycosylation	A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).	OMIM:608540|SCTID:720941007|MESH:C535749|Orphanet:79327|UMLS:C2931005|GARD:0009838|DOID:0080563	mondo.json	CDG 1K|ALG1-CDG|mannosyltransferase 1 deficiency|congenital disorder of glycosylation type 1k|carbohydrate deficient glycoprotein syndrome type Ik|CDG-Ik|CDG1K|congenital disorder of glycosylation, type Ik|CDG syndrome type Ik|ALG1-congenital disorder of glycosylation|ALG1-CDG (CDG-Ik)|congenital disorder of glycosylation type Ik|CDG Ik	http://purl.obolibrary.org/obo/MONDO_0012052	UMLS:C2931005|https://omim.org/entry/608540|http://identifiers.org/snomedct/720941007|DOID:0080563|Orphanet:79327|http://identifiers.org/mesh/C535749	ordo_disease
MONDO:0012053	biolink:Disease	aneurysm, intracranial berry, 2		UMLS:C1837894|OMIM:608542|MESH:C536360|GARD:0010033	mondo.json	aneurysm, intracranial BERRY, 2|ANIB2	http://purl.obolibrary.org/obo/MONDO_0012053	UMLS:C1837894|https://omim.org/entry/608542|http://identifiers.org/mesh/C536360	
MONDO:0000058	biolink:Disease	obsolete melanoma, cutaneous malignant			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000058		
MONDO:0000057	biolink:Disease	obsolete medullary cystic kidney disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000057		
MONDO:0000056	biolink:Disease	obsolete mandibuloacral dysplasia with lipodystrophy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000056		
MONDO:0000055	biolink:Disease	obsolete major affective disorder			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000055		
MONDO:0000059	biolink:Disease	obsolete methylmalonic aciduria and homocystinuria			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000059		
MONDO:0000050	biolink:Disease	isolated congenital growth hormone deficiency		SCTID:2109003|MedDRA:10035083|OMIMPS:262400|GARD:0012556|Orphanet:631|UMLS:C0013338|DOID:0060870	mondo.json	congenital isolated GH deficiency|isolated growth hormone deficiency|familial isolated growth hormone deficiency|IGHD|ICGHD|non-acquired isolated growth hormone deficiency|congenital IGHD|congenital isolated growth hormone deficiency	http://purl.obolibrary.org/obo/MONDO_0000050	DOID:0060870|http://identifiers.org/snomedct/2109003|https://omim.org/phenotypicSeries/PS262400|Orphanet:631	ordo_disease
MONDO:0000054	biolink:Disease	obsolete macular dystrophy			mondo.json	obsolete macular dystrophy (disease)	http://purl.obolibrary.org/obo/MONDO_0000054		
MONDO:0000053	biolink:Disease	obsolete macroglobulinemia, Waldenstrom			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000053		
MONDO:0000052	biolink:Disease	obsolete leukodystrophy, hypomyelinating			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000052		
MONDO:0000051	biolink:Disease	obsolete keratoderma, palmoplantar striate			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000051		
MONDO:0012047	biolink:Disease	alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia		UMLS:C1837946|MESH:C563920|OMIM:608509	mondo.json	alopecia universalis congenita, XY gonadal dysgenesis, and laryngomalacia	http://purl.obolibrary.org/obo/MONDO_0012047	UMLS:C1837946|http://identifiers.org/mesh/C563920|https://omim.org/entry/608509	
MONDO:0012048	biolink:Disease	endogenous depression	Depression which is considered strictly biological.	DOID:1595|SCTID:300706003|EFO:0003761|NCIT:C35094|NCIT:C34532|OMIM:608516	mondo.json	unipolar depression|clinical depression|major depressive disorder|MDD	http://purl.obolibrary.org/obo/MONDO_0012048	http://identifiers.org/snomedct/300706003|DOID:1595|NCIT:C34532	
MONDO:0012045	biolink:Disease	myopia 5, autosomal dominant		UMLS:C1837972|MESH:C563922|OMIM:608474	mondo.json	MYP5|myopia 5, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012045	UMLS:C1837972|http://identifiers.org/mesh/C563922|https://omim.org/entry/608474	
HGNC:13406	biolink:NamedThing	PCLO			mondo.json		http://identifiers.org/hgnc/13406		
MONDO:0012046	biolink:Disease	congenital corneal opacities, cornea guttata, and corectopia		UMLS:C1837970|MESH:C563921|OMIM:608484	mondo.json	congenital corneal opacities, cornea guttata, and corectopia|corneal opacities, congenital, with cornea guttata and corectopia	http://purl.obolibrary.org/obo/MONDO_0012046	UMLS:C1837970|http://identifiers.org/mesh/C563921|https://omim.org/entry/608484	
MONDO:0012049	biolink:Disease	orofaciodigital syndrome VII		DOID:0060377|MESH:C563104|Orphanet:90649|UMLS:C0796100|OMIM:608518|UMLS:CN206429	mondo.json	orofaciodigital syndrome type VII|orofaciodigital syndrome 7|oral-Facial-digital syndrome, type 7|orofaciodigital syndrome VII|Whelan syndrome|orofaciodigital syndrome type 7|Ofds 7|OFD7	http://purl.obolibrary.org/obo/MONDO_0012049	http://identifiers.org/mesh/C563104|DOID:0060377|UMLS:CN206429|https://omim.org/entry/608518|UMLS:C0796100|Orphanet:90649	
GO:0048209	biolink:NamedThing	regulation of vesicle targeting, to, from or within Golgi	Any process that modulates the frequency, rate, or destination of vesicle-mediated transport to, from or within the Golgi apparatus.		mondo.json	regulation of Golgi vesicle targeting	http://purl.obolibrary.org/obo/GO_0048209		
MONDO:0012040	biolink:Disease	inflammatory bowel disease 9	An inflammatory bowel disease that has material basis in variation in the chromosome region 3p26.	DOID:0110886|MESH:C563926|UMLS:C1838019|OMIM:608448	mondo.json	inflammatory bowel disease type 9|IBD9|inflammatory bowel disease 9	http://purl.obolibrary.org/obo/MONDO_0012040	DOID:0110886|http://identifiers.org/mesh/C563926|https://omim.org/entry/608448|UMLS:C1838019	
MONDO:0012043	biolink:Disease	Reis-Bucklers corneal dystrophy	Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.	MESH:C535476|SCTID:231930000|Orphanet:98961|UMLS:C0339278|GARD:0009276|OMIM:608470|ICD9:371.52|DOID:0060453	mondo.json	Reis-Bücklers corneal dystrophy|granular corneal dystrophy, type 3|corneal dystrophy of Bowman layer type 1|granular corneal dystrophy type III|geographic corneal dystrophy|Reis Bucklers dystrophy|CDRB|anterior limiting membrane dystrophy type 1|superficial granular corneal dystrophy|granular corneal dystrophy type 3|corneal dystrophy, geographic|atypical granular corneal dystrophy|RBCD|Reis-Bucklers corneal dystrophy|corneal dystrophy of Bowman Layer, type 1|corneal dystrophy geographic|Reis Bucklers corneal dystrophy|corneal dystrophy of Bowman layer type I|corneal dystrophy, REIS-Bucklers type|corneal dystrophy Reis Bucklers type|CDB1|anterior limiting membrane dystrophy type I	http://purl.obolibrary.org/obo/MONDO_0012043	http://identifiers.org/mesh/C535476|DOID:0060453|https://omim.org/entry/608470|UMLS:C0339278|Orphanet:98961|http://identifiers.org/snomedct/231930000	ordo_disease
MONDO:0012044	biolink:Disease	corneal dystrophy, lattice type 3A	Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically.	MESH:C563923|OMIM:608471|UMLS:C1837974|GARD:0010320	mondo.json	lattice corneal dystrophy type 3A|lattice corneal dystrophy, type 3A|corneal dystrophy, lattice type IIIA|CDL3A|lattice corneal dystrophy type III A	http://purl.obolibrary.org/obo/MONDO_0012044	UMLS:C1837974|http://identifiers.org/mesh/C563923|https://omim.org/entry/608471	gard_rare
MONDO:0012041	biolink:Disease	familial adenomatous polyposis 2	An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur.	GARD:0010805|MESH:C563924|OMIM:608456|NCIT:C96520|UMLS:C1837991|Orphanet:247798	mondo.json	autosomal recessive multiple colorectal adenomas|MUTYH-related attenuated familial adenomatous polyposis|MUTYH-related attenuated familial polyposis coli|familial adenomatous polyposis, 2|MUTYH-related AFAP|familial adenomatous polyposis, type 2|MUTYH-related attenuated FAP|MYH-associated polyposis|familial adenomatous polyposis 2|MAP|MAP syndrome|FAP2|adenomas, multiple colorectal, autosomal recessive|MUTYH-associated polyposis|colorectal adenomatous polyposis, autosomal recessive|autosomal recessive familial adenomatous polyposis	http://purl.obolibrary.org/obo/MONDO_0012041	UMLS:C1837991|http://identifiers.org/mesh/C563924|Orphanet:247798|https://omim.org/entry/608456|NCIT:C96520	ordo_clinical_subtype|gard_rare|clingen
ENVO:01001581	biolink:NamedThing	sea surface layer	A surface layer which is part of an ocean or sea.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001581		
MONDO:0012042	biolink:Disease	hirschsprung disease, susceptibility to, 8		OMIM:608462	mondo.json	Hirschsprung disease, susceptibility to, 8|HSCR8	http://purl.obolibrary.org/obo/MONDO_0012042	https://omim.org/entry/608462	predisposition
MONDO:0000069	biolink:Disease	obsolete multiple endocrine neoplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000069		
MONDO:0000068	biolink:Disease	obsolete mucolipidosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000068		
MONDO:0000067	biolink:Disease	obsolete mitochondrial DNA depletion syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000067		
MONDO:0000066	biolink:Disease	mitochondrial complex deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000066		
CHEBI:63161	biolink:ChemicalSubstance	glycosyl compound	A carbohydrate derivative arising formally from the elimination of water from a glycosidic hydroxy group and an H atom bound to an oxygen, carbon, nitrogen or sulfur atom of a separate entity.		mondo.json	glycosyl compounds	http://purl.obolibrary.org/obo/CHEBI_63161		
MONDO:0000061	biolink:Disease	obsolete microcephaly, primary, autosomal recessive			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000061		
MONDO:0000060	biolink:Disease	microcephalic osteodysplastic primordial dwarfism		UMLS:CN239360	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000060	UMLS:CN239360	
MONDO:0000065	biolink:Disease	microvascular complications of diabetes, susceptibility		UMLS:CN357508|OMIMPS:603933	mondo.json	microvascular complications of diabetes	http://purl.obolibrary.org/obo/MONDO_0000065	https://omim.org/phenotypicSeries/PS603933|UMLS:CN357508	predisposition
MONDO:0000064	biolink:Disease	obsolete syndromic microphthalmia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000064		
MONDO:0000063	biolink:Disease	obsolete molybdenum cofactor deficiency		HP:0003570	mondo.json	molybdenum cofactor deficiency|obsolete molybdenum cofactor deficiency (disease)	http://purl.obolibrary.org/obo/MONDO_0000063		
MONDO:0000062	biolink:Disease	isolated microphthalmia	A microphthalmia that is not part of a larger syndrome.	DOID:0080637|OMIMPS:251600	mondo.json	nonsyndromic microphthalmia|microphthalmia, isolated	http://purl.obolibrary.org/obo/MONDO_0000062	https://omim.org/phenotypicSeries/PS251600|DOID:0080637	
MONDO:0014699	biolink:Disease	intellectual disability, autosomal dominant 40	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CHAMP1 gene.	UMLS:C4225275|OMIM:616579|DOID:0070070	mondo.json	autosomal dominant non-syndromic intellectual disability 40|autosomal dominant non-syndromic intellectual disability caused by mutation in CHAMP1|autosomal dominant mental retardation 40|mental retardation, autosomal dominant type 40|MRD40|CHAMP1 autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant type 40|autosomal dominant intellectual disability 40|mental retardation, autosomal dominant 40|intellectual disability, autosomal dominant 40	http://purl.obolibrary.org/obo/MONDO_0014699	UMLS:C4225275|https://omim.org/entry/616579|DOID:0070070	
MONDO:0012036	biolink:Disease	systemic lupus erythematosus, susceptibility to, 4		OMIM:608437	mondo.json	systemic lupus erythematosus, susceptibility to, 4|SLEB4	http://purl.obolibrary.org/obo/MONDO_0012036	https://omim.org/entry/608437	predisposition
MONDO:0012037	biolink:Disease	intellectual disability, autosomal recessive 3	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene.	MESH:C563929|UMLS:C1838023|OMIM:608443	mondo.json	autosomal recessive non-syndromic intellectual disability caused by mutation in CC2D1A|MRT3|mental retardation, autosomal recessive type 3|mental retardation, autosomal recessive 3|CC2D1A autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive type 3|intellectual disability, autosomal recessive 3	http://purl.obolibrary.org/obo/MONDO_0012037	UMLS:C1838023|http://identifiers.org/mesh/C563929|https://omim.org/entry/608443	
MONDO:0014698	biolink:Disease	microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome		OMIM:616577|UMLS:C4225276|Orphanet:457351	mondo.json	epilepsy, hearing loss, and mental retardation syndrome|EHLMRS|epilepsy, hearing loss, and intellectual disability syndrome|neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities|microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome	http://purl.obolibrary.org/obo/MONDO_0014698	UMLS:C4225276|https://omim.org/entry/616577|Orphanet:457351	ordo_malformation_syndrome
MONDO:0014697	biolink:Disease	immunodeficiency, common variable, 12	Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB1 gene.	UMLS:C4225277|OMIM:616576	mondo.json	NFKB1 common variable immunodeficiency|common variable immunodeficiency caused by mutation in NFKB1|immunodeficiency, common variable, 12|NFKB1 deficiency|CVID12|immunodeficiency, common variable, type 12	http://purl.obolibrary.org/obo/MONDO_0014697	https://omim.org/entry/616576|UMLS:C4225277	
MONDO:0012034	biolink:Disease	autosomal dominant limb-girdle muscular dystrophy type 1F	Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.	GARD:0012530|DOID:0110304|MESH:C564242|Orphanet:55595|SCTID:719989007|OMIM:608423	mondo.json	limb-girdle muscular dystrophy type 1F|muscular dystrophy, limb-girdle, type 1F|muscular dystrophy, limb-girdle, autosomal dominant 2|LGMD1F|muscular dystrophy limb-girdle type 1F	http://purl.obolibrary.org/obo/MONDO_0012034	Orphanet:55595|http://identifiers.org/mesh/C564242|DOID:0110304|http://identifiers.org/snomedct/719989007|https://omim.org/entry/608423	ordo_disease
MONDO:0012035	biolink:Disease	craniosynostosis-intracranial calcifications syndrome	Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis, characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.	UMLS:C1842058|Orphanet:52054|MESH:C564241|SCTID:720816004|OMIM:608432	mondo.json	Longman-Tolmie syndrome|craniosynostosis, calcification of basal ganglia, and facial dysmorphism	http://purl.obolibrary.org/obo/MONDO_0012035	UMLS:C1842058|http://identifiers.org/mesh/C564241|Orphanet:52054|https://omim.org/entry/608432|http://identifiers.org/snomedct/720816004	ordo_malformation_syndrome
MONDO:0014696	biolink:Disease	cerebrooculofacioskeletal syndrome 3		MESH:C565035|UMLS:C1851443|OMIM:616570	mondo.json	COFS3|cerebrooculofacioskeletal syndrome 3|cerebrooculofacioskeletal syndrome type 3	http://purl.obolibrary.org/obo/MONDO_0014696	https://omim.org/entry/616570|UMLS:C1851443|http://identifiers.org/mesh/C565035	
CL:1001111	biolink:Cell	kidney loop of Henle thin descending limb epithelial cell		KUPO:0001054	mondo.json		http://purl.obolibrary.org/obo/CL_1001111		
MONDO:0012038	biolink:Disease	speech-sound disorder		MESH:C563928|OMIM:608445|UMLS:C4078288	mondo.json	speech-sound disorder|SSD	http://purl.obolibrary.org/obo/MONDO_0012038	UMLS:C4078288|http://identifiers.org/mesh/C563928|https://omim.org/entry/608445	
MONDO:0012039	biolink:Disease	myocardial infarction, susceptibility to		OMIM:608446	mondo.json	myocardial infarction, susceptibility to, 1|susceptibility to myocardial infarction|myocardial infarction, protection against|myocardial infarction, susceptibility to|myocardial infarction, decreased susceptibility to	http://purl.obolibrary.org/obo/MONDO_0012039	https://omim.org/entry/608446	predisposition
MONDO:0014691	biolink:Disease	Noonan syndrome 9	Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene.	OMIM:616559|UMLS:C4225282|DOID:0060587	mondo.json	NS9|SOS2 Noonan syndrome|Noonan syndrome type 9|Noonan syndrome 9|Noonan syndrome caused by mutation in SOS2	http://purl.obolibrary.org/obo/MONDO_0014691	DOID:0060587|UMLS:C4225282|https://omim.org/entry/616559	
MONDO:0014690	biolink:Disease	dyskeratosis congenita, autosomal dominant 6	A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1.	UMLS:C4225284|Orphanet:3322|OMIM:616553|DOID:0070023	mondo.json	dyskeratosis congenita, autosomal dominant 6|dyskeratosis congenita, autosomal dominant type 6|DKCA6|autosomal dominant dyskeratosis congenita 6|dyskeratosis congenita, autosomal recessive 7	http://purl.obolibrary.org/obo/MONDO_0014690	DOID:0070023|UMLS:C4225284|https://omim.org/entry/616553	
UBERON:3011045	biolink:AnatomicalEntity	gasserian ganglion			mondo.json		http://purl.obolibrary.org/obo/UBERON_3011045		
MONDO:0014695	biolink:Disease	glioma susceptibility 9	Any malignant glioma in which the cause of the disease is a mutation in the POT1 gene.	OMIM:616568|Orphanet:251630|Orphanet:251627	mondo.json	glioma susceptibility 9|glioma susceptibility type 9|GLM9|POT1 malignant glioma|Pot1 malignant glioma|malignant glioma caused by mutation in Pot1|malignant glioma caused by mutation in POT1	http://purl.obolibrary.org/obo/MONDO_0014695	https://omim.org/entry/616568	predisposition
MONDO:0012032	biolink:Disease	Braddock syndrome	Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.	OMIM:608406|UMLS:C4303988|Orphanet:52047|UMLS:C1842082|SCTID:720575002|MESH:C564244	mondo.json	VATER-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency|Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency	http://purl.obolibrary.org/obo/MONDO_0012032	http://identifiers.org/mesh/C564244|UMLS:C4303988|Orphanet:52047|https://omim.org/entry/608406|http://identifiers.org/snomedct/720575002|UMLS:C1842082	ordo_malformation_syndrome
MONDO:0014694	biolink:Disease	spondylocostal dysostosis 6, autosomal recessive	Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the RIPPLY2 gene.	UMLS:C4225279|OMIM:616566|GARD:0012807	mondo.json	spondylocostal dysostosis 6, autosomal recessive|autosomal recessive spondylocostal dysostosis caused by mutation in RIPPLY2|spondylocostal dysostosis 6|RIPPLY2 autosomal recessive spondylocostal dysostosis|SCDO6	http://purl.obolibrary.org/obo/MONDO_0014694	https://omim.org/entry/616566|UMLS:C4225279	
MONDO:0012033	biolink:Disease	bradyopsia	Bradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia.	OMIM:608415|GARD:0012299|ICD9:368.8|Orphanet:75374|SCTID:711163009|MESH:C564243|DOID:0050335	mondo.json	prolonged electroretinal response suppression|PERRS|bradyopsia	http://purl.obolibrary.org/obo/MONDO_0012033	http://identifiers.org/mesh/C564243|https://omim.org/entry/608415|Orphanet:75374|http://identifiers.org/snomedct/711163009|DOID:0050335	ordo_disease|gard_rare
MONDO:0012030	biolink:Disease	autosomal dominant nonsyndromic hearing loss 43	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p12.	DOID:0110568|UMLS:C1842108|OMIM:608394|MESH:C564246	mondo.json	deafness, autosomal dominant 43|autosomal dominant nonsyndromic deafness type 43|autosomal dominant deafness 43|DFNA43|autosomal dominant nonsyndromic deafness 43	http://purl.obolibrary.org/obo/MONDO_0012030	http://identifiers.org/mesh/C564246|DOID:0110568|https://omim.org/entry/608394|UMLS:C1842108	
ENVO:01001570	biolink:NamedThing	terrestrial ecoregion	An ecoregion which is located on a landmass.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001570		
MONDO:0014693	biolink:Disease	Noonan syndrome 10	Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene.	UMLS:C4225280|OMIM:616564|DOID:0060588	mondo.json	Noonan syndrome 10|NS10|Noonan syndrome type 10|LZTR1 Noonan syndrome|Noonan syndrome caused by mutation in LZTR1	http://purl.obolibrary.org/obo/MONDO_0014693	DOID:0060588|UMLS:C4225280|https://omim.org/entry/616564	
MONDO:0014692	biolink:Disease	retinitis pigmentosa 74	Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene.	DOID:0110401|ICD10CM:H35.5|OMIM:616562|UMLS:C4225281	mondo.json	RP74|retinitis pigmentosa 74|BBS2 retinitis pigmentosa|retinitis pigmentosa caused by mutation in BBS2|retinitis pigmentosa type 74	http://purl.obolibrary.org/obo/MONDO_0014692	DOID:0110401|UMLS:C4225281|https://omim.org/entry/616562	
MONDO:0012031	biolink:Disease	platelet-type bleeding disorder 10	Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene.	OMIM:608404|DOID:0111046|MESH:C564245|UMLS:C1842090	mondo.json	BDPLT10|CD36 deficiency|platelet-type bleeding disorder 10|CD36 inherited bleeding disorder, platelet-type|bleeding disorder, Platelet-type, 10|platelet glycoprotein 4 deficiency|inherited bleeding disorder, platelet-type caused by mutation in CD36|platelet glycoprotein IV deficiency	http://purl.obolibrary.org/obo/MONDO_0012031	http://identifiers.org/mesh/C564245|https://omim.org/entry/608404|DOID:0111046|UMLS:C1842090	
UBERON:0001789	biolink:AnatomicalEntity	outer nuclear layer of retina			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001789		
UBERON:0001788	biolink:AnatomicalEntity	outer limiting layer of retina			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001788		
UBERON:0013774	biolink:AnatomicalEntity	diaphysis of metatarsal bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013774		
UBERON:0011111	biolink:AnatomicalEntity	humeroradial joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011111		
UBERON:0011110	biolink:AnatomicalEntity	humeroulnar joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011110		
UBERON:0013776	biolink:AnatomicalEntity	skin of palmar/plantar part of autopod			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013776		
UBERON:0013777	biolink:AnatomicalEntity	skin of palm of manus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013777		
UBERON:0013772	biolink:AnatomicalEntity	left nipple			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013772		
UBERON:0013773	biolink:AnatomicalEntity	right nipple			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013773		
UBERON:0011112	biolink:AnatomicalEntity	tibiofibular joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011112		
HGNC:13503	biolink:NamedThing	ZBTB20			mondo.json		http://identifiers.org/hgnc/13503		
CHEBI:61313	biolink:ChemicalSubstance	C21-steroid	A steroid that has a structure based on a 21-carbon (pregnane) skeleton. Note that individual examples may have ring substituents at other positions and/or contain double bonds, aromatic A-rings, expanded/contracted rings etc., so the formula and mass may vary from that given for the generic structure.		mondo.json	a C21-steroid	http://purl.obolibrary.org/obo/CHEBI_61313		
UBERON:0011108	biolink:AnatomicalEntity	synovial joint of pectoral girdle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011108		
UBERON:0011107	biolink:AnatomicalEntity	synovial joint of pelvic girdle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011107		
CHEBI:36347	biolink:ChemicalSubstance	nuclear particle	A nucleus or any of its constituents in any of their energy states.		mondo.json	nuclear particle	http://purl.obolibrary.org/obo/CHEBI_36347		
CHEBI:36344	biolink:ChemicalSubstance	hadron	Hadron is a subatomic particle which experiences the strong force.		mondo.json	hadrons	http://purl.obolibrary.org/obo/CHEBI_36344		
UBERON:0001790	biolink:AnatomicalEntity	outer plexiform layer of retina			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001790		
UBERON:0013768	biolink:AnatomicalEntity	great vessel of heart			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013768		
UBERON:0013769	biolink:AnatomicalEntity	uterine lumen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013769		
UBERON:0001796	biolink:AnatomicalEntity	aqueous humor of eyeball			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001796		
UBERON:0001795	biolink:AnatomicalEntity	inner plexiform layer of retina			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001795		
UBERON:0001798	biolink:AnatomicalEntity	vitreous body			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001798		
UBERON:0001797	biolink:AnatomicalEntity	vitreous humor			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001797		
CHEBI:36342	biolink:ChemicalSubstance	subatomic particle	A particle smaller than an atom.		mondo.json	subatomic particles	http://purl.obolibrary.org/obo/CHEBI_36342		
UBERON:0001792	biolink:AnatomicalEntity	ganglionic layer of retina			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001792		
UBERON:0001791	biolink:AnatomicalEntity	inner nuclear layer of retina			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001791		
CHEBI:36343	biolink:ChemicalSubstance	composite particle	A subatomic particle known to have substructure (i.e. consisting of smaller particles).		mondo.json	composite particles	http://purl.obolibrary.org/obo/CHEBI_36343		
UBERON:0001794	biolink:AnatomicalEntity	inner limiting layer of retina			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001794		
CHEBI:36340	biolink:ChemicalSubstance	fermion	Particle of half-integer spin quantum number following Fermi-Dirac statistics. Fermions are named after Enrico Fermi.		mondo.json	fermions|fermion	http://purl.obolibrary.org/obo/CHEBI_36340		
HGNC:8654	biolink:NamedThing	PCCB			mondo.json		http://identifiers.org/hgnc/8654		
HGNC:8653	biolink:NamedThing	PCCA			mondo.json		http://identifiers.org/hgnc/8653		
UBERON:0001793	biolink:AnatomicalEntity	nerve fiber layer of retina			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001793		
MONDO:0002501	biolink:Disease	brain glioblastoma	A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor.	DOID:3073|SCTID:276828006|NCIT:C4642|EFO:0006545|UMLS:C0349543	mondo.json	glioblastoma multiforme of brain|brain glioblastoma (disease)|grade IV astrocytic tumor of the brain|grade IV brain astrocytic tumor|glioblastoma multiforme of the brain|grade IV astrocytic tumor of brain|grade IV brain astrocytic neoplasm|grade IV astrocytic neoplasm of the brain|glioblastoma (disease) of brain|grade IV astrocytic neoplasm of brain|brain glioblastoma multiforme (disease)|brain glioblastoma multiforme|brain glioblastoma	http://purl.obolibrary.org/obo/MONDO_0002501	UMLS:C0349543|NCIT:C4642|http://identifiers.org/snomedct/276828006|DOID:3073	
MONDO:0002502	biolink:Disease	obsolete giant cell glioblastoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002502		
MONDO:0002503	biolink:Disease	adult astrocytic tumour	An astrocytic tumor occurring during adulthood. Representative examples include diffuse astrocytoma, anaplastic astrocytoma, and glioblastoma.	DOID:3076|NCIT:C7049|UMLS:C1332183	mondo.json	adult astrocytic tumor|astrocytic tumor|adult astrocytic neoplasm|adult astrocytoma	http://purl.obolibrary.org/obo/MONDO_0002503	UMLS:C1332183|DOID:3076|NCIT:C7049	
MONDO:0002504	biolink:Disease	obsolete grade III astrocytoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002504		
UBERON:0001778	biolink:AnatomicalEntity	ciliary epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001778		
UBERON:0001777	biolink:AnatomicalEntity	substantia propria of cornea			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001777		
MONDO:0002500	biolink:Disease	obsolete gliosarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002500		
UBERON:0001779	biolink:AnatomicalEntity	iris stroma			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001779		
UBERON:0013765	biolink:AnatomicalEntity	digestive system element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013765		
UBERON:0011104	biolink:AnatomicalEntity	epiphysis of fifth metacarpal bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011104		
HGNC:13508	biolink:NamedThing	BPY2			mondo.json		http://identifiers.org/hgnc/13508		
UBERON:0013760	biolink:AnatomicalEntity	external cervical os			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013760		
UBERON:0013761	biolink:AnatomicalEntity	cervical cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013761		
NCBITaxon:194924	biolink:OrganismalEntity	Desulfovibrionaceae		GC_ID:11|PMID:16403855	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_194924		
CHEBI:36357	biolink:ChemicalSubstance	polyatomic entity	Any molecular entity consisting of more than one atom.		mondo.json	polyatomic entities	http://purl.obolibrary.org/obo/CHEBI_36357		
CHEBI:36358	biolink:ChemicalSubstance	polyatomic ion	An ion consisting of more than one atom.		mondo.json	polyatomic ions	http://purl.obolibrary.org/obo/CHEBI_36358		
HGNC:6005	biolink:NamedThing	IL21			mondo.json		http://identifiers.org/hgnc/6005		
HGNC:6006	biolink:NamedThing	IL21R			mondo.json		http://identifiers.org/hgnc/6006		
HGNC:13517	biolink:NamedThing	CLIC5			mondo.json		http://identifiers.org/hgnc/13517		
HGNC:6008	biolink:NamedThing	IL2RA			mondo.json		http://identifiers.org/hgnc/6008		
UBERON:0013756	biolink:AnatomicalEntity	venous blood			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013756		
UBERON:0013757	biolink:AnatomicalEntity	capillary blood			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013757		
UBERON:0013758	biolink:AnatomicalEntity	cervical os			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013758		
CHEBI:36359	biolink:ChemicalSubstance	phosphorus oxoacid derivative			mondo.json	phosphorus oxoacid derivative	http://purl.obolibrary.org/obo/CHEBI_36359		
UBERON:0013759	biolink:AnatomicalEntity	internal cervical os			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013759		
UBERON:0001785	biolink:AnatomicalEntity	cranial nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001785		
UBERON:0001787	biolink:AnatomicalEntity	photoreceptor layer of retina			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001787		
HGNC:6000	biolink:NamedThing	IL1RN			mondo.json		http://identifiers.org/hgnc/6000		
UBERON:0001781	biolink:AnatomicalEntity	layer of retina			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001781		
UBERON:0001780	biolink:AnatomicalEntity	spinal nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001780		
UBERON:0001783	biolink:AnatomicalEntity	optic disc			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001783		
UBERON:0001782	biolink:AnatomicalEntity	pigmented layer of retina			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001782		
UBERON:0001766	biolink:AnatomicalEntity	anterior chamber of eyeball			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001766		
UBERON:0001769	biolink:AnatomicalEntity	iris			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001769		
UBERON:0001768	biolink:AnatomicalEntity	uvea			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001768		
UBERON:0013752	biolink:AnatomicalEntity	diaphysis of metacarpal bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013752		
UBERON:0013753	biolink:AnatomicalEntity	distal epiphysis of metacarpal bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013753		
UBERON:0013754	biolink:AnatomicalEntity	integumentary system layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013754		
UBERON:0035102	biolink:AnatomicalEntity	transverse process of caudal vertebra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035102		
UBERON:0013755	biolink:AnatomicalEntity	arterial blood			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013755		
UBERON:0013750	biolink:AnatomicalEntity	metaphysis of tibia			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013750		
UBERON:0013751	biolink:AnatomicalEntity	metaphysis of radius			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013751		
UBERON:0013749	biolink:AnatomicalEntity	metaphysis of humerus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013749		
HGNC:6015	biolink:NamedThing	IL4R			mondo.json		http://identifiers.org/hgnc/6015		
HGNC:6018	biolink:NamedThing	IL6			mondo.json		http://identifiers.org/hgnc/6018		
UBERON:0013748	biolink:AnatomicalEntity	ulnar metaphysis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013748		
UBERON:0001774	biolink:AnatomicalEntity	skeletal muscle of trunk			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001774		
UBERON:0001773	biolink:AnatomicalEntity	sclera			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001773		
UBERON:0001776	biolink:AnatomicalEntity	optic choroid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001776		
HGNC:6010	biolink:NamedThing	IL2RG			mondo.json		http://identifiers.org/hgnc/6010		
UBERON:0001775	biolink:AnatomicalEntity	ciliary body			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001775		
UBERON:0001770	biolink:AnatomicalEntity	lacrimal canaliculus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001770		
UBERON:0001772	biolink:AnatomicalEntity	corneal epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001772		
UBERON:0001771	biolink:AnatomicalEntity	pupil			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001771		
UBERON:0001759	biolink:AnatomicalEntity	vagus nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001759		
UBERON:0001756	biolink:AnatomicalEntity	middle ear			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001756		
UBERON:0001758	biolink:AnatomicalEntity	periodontium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001758		
UBERON:0001757	biolink:AnatomicalEntity	pinna			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001757		
UBERON:0035111	biolink:AnatomicalEntity	medial plantar nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035111		
UBERON:0035110	biolink:AnatomicalEntity	lateral plantar nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035110		
CHEBI:51958	biolink:ChemicalSubstance	organic polycyclic compound			mondo.json	organic polycyclic compounds	http://purl.obolibrary.org/obo/CHEBI_51958		
CHEBI:51959	biolink:ChemicalSubstance	organic tricyclic compound			mondo.json	organic tricyclic compounds	http://purl.obolibrary.org/obo/CHEBI_51959		
HGNC:6026	biolink:NamedThing	CXCR1			mondo.json		http://identifiers.org/hgnc/6026		
HGNC:6027	biolink:NamedThing	CXCR2			mondo.json		http://identifiers.org/hgnc/6027		
CHEBI:36333	biolink:ChemicalSubstance	local anaesthetic	Any member of a group of drugs that reversibly inhibit the propagation of signals along nerves. Wide variations in potency, stability, toxicity, water-solubility and duration of action determine the route used for administration, e.g. topical, intravenous, epidural or spinal block.		mondo.json	anesthesique local|local anaesthetic|Lokalanaesthetikum|local anaesthetics|local anesthetics	http://purl.obolibrary.org/obo/CHEBI_36333		
UBERON:0035109	biolink:AnatomicalEntity	plantar nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035109		
CHEBI:36339	biolink:ChemicalSubstance	baryon	Baryon is a fermion that does experience the strong force (strong interaction). The term is derived from the Greek betaalpharhoupsilonsigma (heavy).		mondo.json	baryons	http://purl.obolibrary.org/obo/CHEBI_36339		
CHEBI:36338	biolink:ChemicalSubstance	lepton	Lepton is a fermion that does not experience the strong force (strong interaction). The term is derived from the Greek lambdaepsilonpitauomicronsigma (small, thin).		mondo.json	leptons	http://purl.obolibrary.org/obo/CHEBI_36338		
UBERON:0001763	biolink:AnatomicalEntity	odontogenic papilla			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001763		
UBERON:0001765	biolink:AnatomicalEntity	mammary duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001765		
UBERON:0001764	biolink:AnatomicalEntity	maxillary sinus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001764		
HGNC:6024	biolink:NamedThing	IL7R			mondo.json		http://identifiers.org/hgnc/6024		
UBERON:0001760	biolink:AnatomicalEntity	frontal sinus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001760		
MONDO:0002534	biolink:Disease	fallopian tube papilloma	A benign epithelial neoplasm that arises from the fallopian tube. It is characterized by the presence of fibrovascular stalks lined by serous epithelial cells.	UMLS:C1517123|NCIT:C40112|DOID:3173	mondo.json	fallopian tube serous papilloma|fallopian tube papilloma	http://purl.obolibrary.org/obo/MONDO_0002534	NCIT:C40112|DOID:3173|UMLS:C1517123	
MONDO:0002535	biolink:Disease	verrucous papilloma	A benign epithelial neoplasm characterized by a papillary growth pattern, lack of significant cytologic atypia, and a wart-like appearance.	ICDO:8051/0|NCIT:C4101|UMLS:C0334243|DOID:3177	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002535	DOID:3177|NCIT:C4101|UMLS:C0334243	
MONDO:0002536	biolink:Disease	skin papilloma	A benign papillary neoplastic growth on the skin composed of epithelial cells and a fibrous stalk. It usually develops in the eyelid, axilla, neck, upper chest, and groin.	SCTID:255184001|NCIT:C4614|DOID:3178|UMLS:C0347390	mondo.json	papilloma of the skin|basosquamous tumor, benign|cutaneous papilloma|zone of skin papilloma|papilloma of skin|skin papilloma	http://purl.obolibrary.org/obo/MONDO_0002536	NCIT:C4614|http://identifiers.org/snomedct/255184001|DOID:3178|UMLS:C0347390	
MONDO:0002537	biolink:Disease	inverted papilloma	An endophytic benign papillary epithelial neoplasm that results from the invagination and proliferation of epithelial cells in the underlying stroma. Representative examples are the inverted urothelial papilloma that arises from the urinary tract and inverted Schneiderian papilloma that arises from the nasal cavity or paranasal sinuses.	NCIT:C3793|ICD9:212.0|DOID:3179|UMLS:C0206721|SCTID:104081000119103|MESH:D018308	mondo.json	inverted papilloma|inverted papilloma, squamous cell	http://purl.obolibrary.org/obo/MONDO_0002537	NCIT:C3793|http://identifiers.org/snomedct/104081000119103|DOID:3179|UMLS:C0206721|http://identifiers.org/mesh/D018308	
MONDO:0002530	biolink:Disease	obsolete malignant spindle cell melanoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002530		
MONDO:0002531	biolink:Disease	skin neoplasm	A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma.	SCTID:126488004|UMLS:C0037286|NCIT:C3372|DOID:3165|MESH:D012878|EFO:0004198|ONCOTREE:SKIN|ICD9:239.2	mondo.json	zone of skin neoplasm|neoplasm of zone of skin|tumor of skin|zone of skin tumor|skin neoplasm|neoplasm of skin by site|zone of skin neoplasm (disease)|tumor of zone of skin|skin|tumor of the skin|neoplasm of skin|skin benign neoplasm|skin tumor|neoplasm of the skin|skin neoplasms	http://purl.obolibrary.org/obo/MONDO_0002531	UMLS:C0037286|DOID:3165|http://identifiers.org/snomedct/126488004|http://identifiers.org/mesh/D012878|NCIT:C3372	
MONDO:0002532	biolink:Disease	squamous cell neoplasm	A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example.	DOID:3168|UMLS:C0206720|NCIT:C3792|MESH:D018307	mondo.json	squamous cell tumor|epidermoid cell neoplasm|epidermoid cell tumor|squamous cell neoplasm|squamous cell tumor (qualifier value)	http://purl.obolibrary.org/obo/MONDO_0002532	NCIT:C3792|DOID:3168|UMLS:C0206720|http://identifiers.org/mesh/D018307	
MONDO:0002533	biolink:Disease	papillary adenoma	An adenoma characterized by the presence of papillary epithelial patterns.	NCIT:C79951|UMLS:C0205650|DOID:3172	mondo.json	adenoma, papillary, benign|glandular papilloma|papillary adenoma NOS (morphologic abnormality)|papillary adenoma	http://purl.obolibrary.org/obo/MONDO_0002533	NCIT:C79951|DOID:3172|UMLS:C0205650	
MONDO:0014519	biolink:Disease	chronic mountain sickness, susceptibility to		UMLS:C0274294|OMIM:616182	mondo.json	chronic mountain sickness, susceptibility to|Monge disease	http://purl.obolibrary.org/obo/MONDO_0014519	UMLS:C0274294|https://omim.org/entry/616182	predisposition
UBERON:0011154	biolink:AnatomicalEntity	gular region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011154		
MONDO:0014518	biolink:Disease	platelet-type bleeding disorder 19	Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene.	DOID:0111048|UMLS:C4015405|OMIM:616176|Orphanet:438207	mondo.json	severe autosomal recessive macrothrombocytopenia|PRKACG isolated hereditary giant platelet disorder|BDPLT19|isolated hereditary giant platelet disorder caused by mutation in PRKACG|bleeding disorder, platelet-type, 19	http://purl.obolibrary.org/obo/MONDO_0014518	Orphanet:438207|DOID:0111048|UMLS:C4015405|https://omim.org/entry/616176	ordo_disease
MONDO:0014517	biolink:Disease	generalized epilepsy with febrile seizures plus, type 9	Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene.	UMLS:C4015395|DOID:0111301|OMIM:616172	mondo.json	generalized epilepsy with febrile seizures plus, type 9|STX1B generalized epilepsy with febrile seizures plus|STX1b generalized epilepsy with febrile seizures plus|generalized epilepsy with febrile seizures plus caused by mutation in STX1B|GEFSP9|generalized epilepsy with febrile seizures plus caused by mutation in STX1b|Gefs+, type 9	http://purl.obolibrary.org/obo/MONDO_0014517	UMLS:C4015395|DOID:0111301|https://omim.org/entry/616172	
CHEBI:36309	biolink:ChemicalSubstance	cyclic tetrapyrrole			mondo.json	macrocyclic tetrapyrrole|macrocyclic tetrapyrroles|cyclic tetrapyrroles	http://purl.obolibrary.org/obo/CHEBI_36309		
UBERON:0011159	biolink:AnatomicalEntity	primary subdivision of cranial skeletal system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011159		
UBERON:0011158	biolink:AnatomicalEntity	primary subdivision of skull			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011158		
UBERON:0011156	biolink:AnatomicalEntity	facial skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011156		
GO:0120255	biolink:NamedThing	olefinic compound biosynthetic process	The chemical reactions and pathways resulting in the formation of an olefinic compound, any compound which contains a carbon-carbon double bond (aka C=C).		mondo.json	alkene substituted compound anabolic process|alkene substituted compound anabolism|alkene substituted compound synthesis|alkene substituted compound biosynthesis|alkene substituted compound biosynthetic process	http://purl.obolibrary.org/obo/GO_0120255		
MONDO:0014523	biolink:Disease	juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome		Orphanet:445062|OMIM:616192|UMLS:C4015436	mondo.json	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus|ACPHD|combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome	http://purl.obolibrary.org/obo/MONDO_0014523	UMLS:C4015436|https://omim.org/entry/616192|Orphanet:445062	ordo_disease
MONDO:0014522	biolink:Disease	retinal dystrophy and obesity		UMLS:C4015424|OMIM:616188	mondo.json	RDOB|retinal dystrophy and obesity	http://purl.obolibrary.org/obo/MONDO_0014522	UMLS:C4015424|https://omim.org/entry/616188	
MONDO:0014521	biolink:Disease	progressive myoclonic epilepsy type 7	Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene.	Orphanet:435438|NCIT:C142804|UMLS:C4015420|DOID:0111447|OMIM:616187	mondo.json	PME type 7|progressive myoclonus epilepsy type 7|progressive myoclonic epilepsy due to KV3.1 deficiency|epilepsy, progressive myoclonic 7|meak|EPM7|epilepsy, progressive myoclonic type 7|myoclonus epilepsy and ataxia due to potassium channel mutation|progressive myoclonic epilepsy caused by mutation in KCNC1|KCNC1 progressive myoclonic epilepsy	http://purl.obolibrary.org/obo/MONDO_0014521	UMLS:C4015420|https://omim.org/entry/616187|DOID:0111447|Orphanet:435438|NCIT:C142804	ordo_disease
MONDO:0014520	biolink:Disease	46,XX ovarian dysgenesis-short stature syndrome		DOID:0080496|Orphanet:444048|UMLS:C4015409|OMIM:616185	mondo.json	ODG4|ovarian dysgenesis type 4|ovarian dysgenesis 4	http://purl.obolibrary.org/obo/MONDO_0014520	DOID:0080496|https://omim.org/entry/616185|UMLS:C4015409|Orphanet:444048	ordo_disease
MONDO:0014527	biolink:Disease	progeroid features-hepatocellular carcinoma predisposition syndrome		DOID:0111264|Orphanet:435953|OMIM:616200|UMLS:C4015461	mondo.json	Ruijs-Aalfs syndrome|RJALS|RUIJS-Aalfs syndrome	http://purl.obolibrary.org/obo/MONDO_0014527	UMLS:C4015461|DOID:0111264|https://omim.org/entry/616200|Orphanet:435953	ordo_disease
MONDO:0014526	biolink:Disease	polyglucosan body myopathy type 2	Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene.	Orphanet:456369|UMLS:C4015452|OMIM:616199	mondo.json	polyglucosan body myopathy caused by mutation in GYG1|polyglucosan body myopathy type 2|PGBM2|GYG1 polyglucosan body myopathy|polyglucosan body myopathy 2	http://purl.obolibrary.org/obo/MONDO_0014526	Orphanet:456369|https://omim.org/entry/616199|UMLS:C4015452	ordo_disease
MONDO:0014525	biolink:Disease	combined oxidative phosphorylation defect type 23	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene.	EFO:0009033|UMLS:C4015447|Orphanet:444013|DOID:0111500|OMIM:616198	mondo.json	GTPBP3 combined oxidative phosphorylation deficiency|COXPD23|combined oxidative phosphorylation deficiency 23|combined oxidative phosphorylation deficiency caused by mutation in GTPBP3|combined oxidative phosphorylation deficiency type 23	http://purl.obolibrary.org/obo/MONDO_0014525	UMLS:C4015447|https://omim.org/entry/616198|DOID:0111500|Orphanet:444013	ordo_disease
GO:0120254	biolink:NamedThing	olefinic compound metabolic process	The chemical reactions and pathways involving an olefinic compound, any compound which contains a carbon-carbon double bond (aka C=C).		mondo.json	alkene substituted compound metabolic process|alkene substituted compound metabolism	http://purl.obolibrary.org/obo/GO_0120254		
MONDO:0014524	biolink:Disease	intellectual disability, autosomal recessive 47	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene.	OMIM:616193|UMLS:C4015444	mondo.json	FMN2 autosomal recessive non-syndromic intellectual disability|intellectual developmental disorder, autosomal recessive 47|mental retardation, autosomal recessive type 47|mental retardation, autosomal recessive 47|MRT47|autosomal recessive non-syndromic intellectual disability caused by mutation in FMN2|intellectual disability, autosomal recessive type 47|intellectual disability, autosomal recessive 47	http://purl.obolibrary.org/obo/MONDO_0014524	UMLS:C4015444|https://omim.org/entry/616193	
MONDO:0002527	biolink:Disease	keratoacanthoma	A dome-shaped, rapidly growing skin lesion composed of well differentiated squamous cells. It represents a proliferation of the infundibular epithelium of the hair follicle and its morphologic distinction from a well differentiated carcinoma may be difficult or impossible. Keratoacanthomas affect males more frequently than females and the majority tend to regress spontaneously. It has been suggested that keratoacanthoma represents a distinct subtype of squamous cell carcinoma of the skin.	MESH:D007636|UMLS:C0022572|NCIT:C3146|ICDO:8071/1|DOID:3149|SCTID:254662007	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002527	UMLS:C0022572|NCIT:C3146|DOID:3149|http://identifiers.org/mesh/D007636|http://identifiers.org/snomedct/254662007	
MONDO:0002528	biolink:Disease	synovium neoplasm	A benign or malignant soft tissue neoplasm arising exclusively from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath, localized giant cell tumor of tendon sheath, and malignant giant cell tumor of tendon sheath.	NCIT:C8964|UMLS:C0476203|DOID:315	mondo.json	synovial membrane of synovial joint neoplasm (disease)|neoplasm of synovial membrane of synovial joint|synovial neoplasm NOS (morphologic abnormality)|synovial membrane of synovial joint tumor|synovial neoplasm (morphologic abnormality)|tumor of the synovium|synovial membrane of synovial joint neoplasm|tumor of synovial membrane of synovial joint|tumor of synovium|synovial tumor|synovial neoplasm|neoplasm of synovium|neoplasm of the synovium	http://purl.obolibrary.org/obo/MONDO_0002528	UMLS:C0476203|DOID:315|NCIT:C8964	
MONDO:0002529	biolink:Disease	skin squamous cell carcinoma	A carcinoma arising from the squamous cells of the epidermis. Skin squamous cell carcinoma is most commonly found on sun-exposed areas. The majority of the tumors are well-differentiated.	ONCOTREE:CSCC|UMLS:C0553723|DOID:3151|SCTID:254651007|NCIT:C4819|EFO:1001927	mondo.json	cutaneous squamous cell carcinoma|squamous cell carcinoma of the skin|skin squamous cell cancer|CSCC|squamous cell carcinoma - skin|epidermoid carcinoma of skin|epidermoid carcinoma of the skin|squamous cell skin carcinoma|skin squamous cell carcinoma|squamous cell carcinoma of skin|epidermoid skin carcinoma|zone of skin squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002529	NCIT:C4819|DOID:3151|http://identifiers.org/snomedct/254651007|UMLS:C0553723	
MONDO:0002545	biolink:Disease	spinal cord disorder	A disease involving the spinal cord.	UMLS:C0037928|DOID:319|SCTID:48522003|MESH:D013118|ICD9:336.8|NCIT:C97110|ICD9:336.9	mondo.json	spinal cord disease|disease or disorder of spinal cord|myelopathy|disease of the spinal cord|disease of spinal cord|spinal cord disease or disorder|spinal cord disorder|disorder of spinal cord	http://purl.obolibrary.org/obo/MONDO_0002545	http://identifiers.org/mesh/D013118|DOID:319|http://identifiers.org/snomedct/48522003|UMLS:C0037928|NCIT:C97110	
MONDO:0002546	biolink:Disease	schwannoma	A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported.	NCIT:C3269|DOID:3192|ICDO:9560/0|SCTID:404022001|GARD:0004767|DOID:955|EFO:0000693|UMLS:CN202001|Orphanet:252164|ICD9:215.9|UMLS:C0027809|ONCOTREE:SCHW|MedDRA:10029235|MedDRA:10029234	mondo.json	SCHW|peripheral fibroblastoma|schwannoma, benign|neurinoma|schwannoma|schwannoma (WHO grade I)|benign schwannoma|psammomatous schwannoma|benign neurilemmoma|neurilemmoma|neurolemmoma	http://purl.obolibrary.org/obo/MONDO_0002546	UMLS:C0027809|DOID:3192|DOID:955|Orphanet:252164|http://identifiers.org/snomedct/404022001|NCIT:C3269|UMLS:CN202001	ordo_disease|gard_rare
MONDO:0002547	biolink:Disease	nerve sheath neoplasm	A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor.	DOID:3193|NCIT:C4972|MESH:D018317|ONCOTREE:NST	mondo.json	nerve sheath neoplasm|neoplasm of nerve sheath|nerve sheath tumor|tumor of nerve sheath|nerve sheath tumour|peripheral nerve sheath neoplasm|neoplasm of the nerve sheath	http://purl.obolibrary.org/obo/MONDO_0002547	NCIT:C4972|DOID:3193|http://identifiers.org/mesh/D018317	
MONDO:0002548	biolink:Disease	cellular schwannoma	A morphologic variant of schwannoma characterized by hypercellularity, Antoni A pattern, and the absence of well-formed Verocay bodies.	NCIT:C4724|SCTID:404026003|UMLS:C0431124|ONCOTREE:CSCHW|ICD9:215.9|DOID:3196	mondo.json	cellular neurinoma|cellular neurilemmoma|cellular schwannoma|CSCHW	http://purl.obolibrary.org/obo/MONDO_0002548	NCIT:C4724|DOID:3196|http://identifiers.org/snomedct/404026003|UMLS:C0431124	
MONDO:0002541	biolink:Disease	spinal cord oligodendroglioma	A oligodendroglioma that involves the spinal cord.	NCIT:C4535|SCTID:254950006|DOID:3184|UMLS:C0346295	mondo.json	well differentiated spinal cord oligodendroglioma|oligodendroglioma of spinal cord|well differentiated spinal cord oligodendroglial tumor|spinal cord oligodendroglioma	http://purl.obolibrary.org/obo/MONDO_0002541	DOID:3184|http://identifiers.org/snomedct/254950006|NCIT:C4535|UMLS:C0346295	
MONDO:0002542	biolink:Disease	spinal cord glioma	A neoplasm that arises from glial cells in the spinal cord. Representative examples include astrocytoma, oligodendroglioma, and ependymoma.	NCIT:C4534|UMLS:C2937245|DOID:3185|SCTID:254946004	mondo.json	spinal cord malignant glioma|glial tumor of spinal cord|spinal cord glial neoplasm|glioma of spinal cord|glial neoplasm spinal cord|malignant glioma of spinal cord|spinal cord glial tumor|spinal cord glioma	http://purl.obolibrary.org/obo/MONDO_0002542	DOID:3185|http://identifiers.org/snomedct/254946004|NCIT:C4534|UMLS:C2937245	
MONDO:0002543	biolink:Disease	adult oligodendroglioma	An oligodendroglioma occurring during adulthood.	NCIT:C4014|DOID:3186|UMLS:C0279070	mondo.json	adult oligodendroglioma|adult brain oligodendroglioma|oligodendroglioma|grade II adult oligodendroglial tumor|oligodendroglioma of adults	http://purl.obolibrary.org/obo/MONDO_0002543	DOID:3186|NCIT:C4014|UMLS:C0279070	
MONDO:0002544	biolink:Disease	brain oligodendroglioma	A oligodendroglioma that involves the brain.	SCTID:254940005|UMLS:C0346286|NCIT:C9377|DOID:3187	mondo.json	oligodendroglioma of brain|brain oligodendroglioma|oligodendroglioma of the brain	http://purl.obolibrary.org/obo/MONDO_0002544	NCIT:C9377|DOID:3187|http://identifiers.org/snomedct/254940005|UMLS:C0346286	
MONDO:0014509	biolink:Disease	vitelliform macular dystrophy 5	Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene.	OMIM:616152|UMLS:C4015343	mondo.json	VMD5|macular dystrophy, vitelliform, 5|IMPG2 vitelliform macular dystrophy|vitelliform macular dystrophy caused by mutation in IMPG2|macular dystrophy, vitelliform, type 5	http://purl.obolibrary.org/obo/MONDO_0014509	UMLS:C4015343|https://omim.org/entry/616152	
MONDO:0014508	biolink:Disease	vitelliform macular dystrophy 4	Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene.	UMLS:C4015342|OMIM:616151	mondo.json	vitelliform macular dystrophy caused by mutation in IMPG1|VMD4|macular dystrophy, vitelliform, 4|IMPG1 vitelliform macular dystrophy|macular dystrophy, vitelliform, type 4	http://purl.obolibrary.org/obo/MONDO_0014508	UMLS:C4015342|https://omim.org/entry/616151	
UBERON:0011143	biolink:AnatomicalEntity	upper urinary tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011143		
MONDO:0014507	biolink:Disease	Catel-Manzke syndrome	Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis.	OMIM:616145|SCTID:722383001|UMLS:C1844887|OMIM:302380|GARD:0000028|Orphanet:1388|MESH:C535347	mondo.json	hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome|Catel Manzke syndrome|Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome|Pierre Robin sequence-hyperphalangy-clinodactyly syndrome|index finger anomaly-Pierre Robin syndrome|Pierre Robin syndrome with hyperphalangy and clinodactyly|index finger anomaly with Pierre Robin syndrome|Palatodigital syndrome, Catel-Manzke type|Catel-Manzke syndrome|Palatodigital syndrome Catel-Manzke type|CATMANS|micrognathia digital syndrome	http://purl.obolibrary.org/obo/MONDO_0014507	http://identifiers.org/snomedct/722383001|Orphanet:1388|https://omim.org/entry/616145|UMLS:C1844887|http://identifiers.org/mesh/C535347	ordo_malformation_syndrome|gard_rare
UBERON:0011142	biolink:AnatomicalEntity	axial ossicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011142		
MONDO:0014506	biolink:Disease	hypomyelinating leukodystrophy 9	Any leukodystrophy in which the cause of the disease is a mutation in the RARS gene.	DOID:0060791|Orphanet:438114|OMIM:616140|UMLS:C4015323	mondo.json	RARS-related autosomal recessive hypomyelinating leukodystrophy|leukodystrophy caused by mutation in RARS|RARS leukodystrophy|leukodystrophy, hypomyelinating, type 9|HLD9|leukodystrophy, hypomyelinating, 9|hypomyelinating leukodystrophy type 9	http://purl.obolibrary.org/obo/MONDO_0014506	DOID:0060791|Orphanet:438114|UMLS:C4015323|https://omim.org/entry/616140	ordo_disease
MONDO:0002540	biolink:Disease	childhood oligodendroglioma	An oligodendroglioma that arises from the central nervous system and occurs during childhood.	UMLS:C0280475|NCIT:C4045|DOID:3183	mondo.json	pediatric oligodendroglioma|oligodendroglioma|oligodendroglioma of childhood	http://purl.obolibrary.org/obo/MONDO_0002540	DOID:3183|UMLS:C0280475|NCIT:C4045	
UBERON:0011141	biolink:AnatomicalEntity	appendicular ossicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011141		
UBERON:0011148	biolink:AnatomicalEntity	submucosal gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011148		
CL:1001611	biolink:Cell	cerebellar neuron	Neuron of the cerebellum.	FMA:84665|CALOHA:TS-2359	mondo.json	cerebellum neuron	http://purl.obolibrary.org/obo/CL_1001611		
MONDO:0014512	biolink:Disease	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.	OMIM:616158|UMLS:C4015357|Orphanet:438216|UMLS:CN237609|DOID:0070061	mondo.json	autosomal dominant intellectual disability 31|mental retardation, autosomal dominant 31|intellectual disability, autosomal dominant 31|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation|autosomal dominant mental retardation 31|autosomal dominant non-syndromic intellectual disability 31|neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties|intellectual disability, autosomal dominant type 31|MRD31|mental retardation, autosomal dominant type 31	http://purl.obolibrary.org/obo/MONDO_0014512	Orphanet:438216|UMLS:C4015357|https://omim.org/entry/616158|UMLS:CN237609|DOID:0070061	ordo_clinical_subtype
CHEBI:38976	biolink:ChemicalSubstance	alkylbenzene	A  monocyclic arene that is benzene substituted with one or more alkyl groups.		mondo.json	Alkylbenzol|alkylbenzene|alkylbenzenes	http://purl.obolibrary.org/obo/CHEBI_38976		
CL:1001610	biolink:Cell	bone marrow hematopoietic cell	Hematopoietic cells resident in the bone marrow. Include: hematopoietic stem cells (lymphoid stem cells and myeloid stem cells) and the precursor cells for thrombocytes, erythrocytes, basophils, neutrophils, eosinophils, monocytes and lymphocytes.	CALOHA:TS-2109	mondo.json	bone marrow hematopoietic cells|bone marrow poietic cells	http://purl.obolibrary.org/obo/CL_1001610		
CHEBI:38975	biolink:ChemicalSubstance	methylbenzene	Any alkylbenzene that is benzene substituted with one or more methyl groups.		mondo.json	methylbenzenes	http://purl.obolibrary.org/obo/CHEBI_38975		
MONDO:0014511	biolink:Disease	Charcot-Marie-Tooth disease axonal type 2S	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene.	UMLS:C4015349|DOID:0110171|Orphanet:443073|OMIM:616155	mondo.json	IGHMBP2 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth neuropathy, type 2S|Charcot-Marie-Tooth disease, axonal, type 2S|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2S|Charcot-Marie-Tooth neuropathy type 2S|CMT2S|Charcot-Marie-Tooth disease caused by mutation in IGHMBP2|autosomal recessive axonal Charcot-Marie-Tooth type 2S|Charcot-Marie-Tooth disease type 2S	http://purl.obolibrary.org/obo/MONDO_0014511	UMLS:C4015349|https://omim.org/entry/616155|DOID:0110171|Orphanet:443073	ordo_disease
MONDO:0014510	biolink:Disease	fatty acyl-CoA reductase 1 deficiency		Orphanet:438178|UMLS:C4015344|OMIM:616154	mondo.json	peroxisomal fatty acyl-CoA reductase 1 disorder|FAR1 deficiency|severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency|fatty acyl-CoA reductase 1 deficiency|severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency|PFCRD|severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder|fatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiency|rhizomelic chondrodysplasia punctata type 4|fatty acyl-CoA reductase 1 disorder	http://purl.obolibrary.org/obo/MONDO_0014510	Orphanet:438178|UMLS:C4015344|https://omim.org/entry/616154	ordo_disease
UBERON:0011139	biolink:AnatomicalEntity	synovial limb joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011139		
UBERON:0011138	biolink:AnatomicalEntity	postcranial axial skeletal system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011138		
MONDO:0014516	biolink:Disease	microcephaly and chorioretinopathy 2	Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene.	DOID:0080106|UMLS:C4015388|OMIM:616171	mondo.json	microcephaly and chorioretinopathy caused by mutation in PLK4|microcephaly and chorioretinopathy, autosomal recessive, type 2|microcephaly and chorioretinopathy, autosomal recessive, 2|microcephaly and chorioretinopathy type 2|MCCRP2|PLK4 microcephaly and chorioretinopathy	http://purl.obolibrary.org/obo/MONDO_0014516	DOID:0080106|UMLS:C4015388|https://omim.org/entry/616171	
MONDO:0014515	biolink:Disease	macular dystrophy with central cone involvement		UMLS:C4015371|OMIM:616170	mondo.json	CCMD|macular dystrophy with central cone involvement	http://purl.obolibrary.org/obo/MONDO_0014515	UMLS:C4015371|https://omim.org/entry/616170	
MONDO:0014514	biolink:Disease	aortic aneurysm, familial thoracic 9	Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene.	OMIM:616166|UMLS:C4015368	mondo.json	MFAP5 familial thoracic aortic aneurysm and aortic dissection|AAT9|aortic aneurysm, familial thoracic 9|aortic aneurysm, thoracic, with or without aortic dissection|familial thoracic aortic aneurysm and aortic dissection caused by mutation in MFAP5|aortic aneurysm, familial thoracic type 9	http://purl.obolibrary.org/obo/MONDO_0014514	UMLS:C4015368|https://omim.org/entry/616166	
PO:0025606	biolink:NamedThing	native plant cell	A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment).	PO_GIT:586	mondo.json		http://purl.obolibrary.org/obo/PO_0025606		
MONDO:0014513	biolink:Disease	nemaline myopathy 10	Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene.	UMLS:C4015360|DOID:0110931|OMIM:616165	mondo.json	nemaline myopathy caused by mutation in LMOD3|NEM10|nemaline myopathy 10|LMOD3 nemaline myopathy|nemaline myopathy type 10	http://purl.obolibrary.org/obo/MONDO_0014513	UMLS:C4015360|https://omim.org/entry/616165|DOID:0110931	
MONDO:0002538	biolink:Disease	obsolete progressive muscular atrophy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002538		
MONDO:0002539	biolink:Disease	obsolete oligodendroglioma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002539		
MONDO:0002512	biolink:Disease	papillary adenocarcinoma	A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma.	NCIT:C2853|UMLS:C0001420|UMLS:C1321863|MESH:D000231|ICDO:8260/3|DOID:3112	mondo.json	infiltrating and papillary adenocarcinoma|papillary adenocarcinoma NOS (morphologic abnormality)|adenocarcinoma, papillary, malignant|papillary adenocarcinoma (morphologic abnormality)|infiltrating papillary adenocarcinoma|papillary adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002512	NCIT:C2853|UMLS:C0001420|UMLS:C1321863|http://identifiers.org/mesh/D000231|DOID:3112	
MONDO:0002513	biolink:Disease	kidney benign neoplasm	A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis.	NCIT:C4778|DOID:3116|EFO:1000111|SCTID:92165001|ICD9:223.0	mondo.json	benign kidney neoplasm|renal tumor, benign|kidney benign neoplasm|benign renal neoplasm|benign renal tumor|renal neoplasm, benign|renal and ureteral tumor|benign tumor of kidney|benign tumor of the kidney|benign neoplasm of kidney|benign neoplasm of the kidney|benign kidney tumor	http://purl.obolibrary.org/obo/MONDO_0002513	NCIT:C4778|DOID:3116|http://identifiers.org/snomedct/92165001	
MONDO:0002514	biolink:Disease	hepatobiliary neoplasm	A benign or malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples of benign neoplasms include hepatocellular adenoma, bile duct adenoma, and gallbladder lipoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma.	EFO:0008550|DOID:3117|UMLS:C0854196|NCIT:C8614	mondo.json	hepato-biliary tumor|neoplasm of hepatobiliary system|hepatobiliary system tumor|hepatobiliary neoplasm|hepatobiliary system neoplasm|hepatobiliary tumors|hepatobiliary tumor|hepatobiliary benign neoplasm|liver and biliary system neoplasm|hepatic, biliary, and gallbladder neoplasms|hepatic and biliary tumors|hepato-biliary neoplasm|hepatic and biliary neoplasms|liver and biliary neoplasm|tumor of hepatobiliary system|hepatobiliary system neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0002514	UMLS:C0854196|DOID:3117|NCIT:C8614	
MONDO:0002515	biolink:Disease	hepatobiliary disorder	A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma.	UMLS:C0267792|NCIT:C3959|DOID:3118	mondo.json	disorder of hepatobiliary system|liver and biliary tract disease|disease of hepatobiliary system|disease or disorder of hepatobiliary system|hepatobiliary disorder|hepatobiliary system disease|liver and biliary system disorder|liver and biliary disorder|liver and biliary disease|hepatobiliary system disease or disorder	http://purl.obolibrary.org/obo/MONDO_0002515	NCIT:C3959|UMLS:C0267792|DOID:3118	
MONDO:0002510	biolink:Disease	obsolete germ cell and embryonal cancer	OBSOLETE. Neoplasms composed of primordial germ cells of embryonic gonads or of elements of the germ layers of the embryo, mammalian. The concept does not refer to neoplasms located in the gonads or present in an embryo or fetus.	MESH:D009373|DOID:3095	mondo.json	germ cell and embryonal neoplasm	http://purl.obolibrary.org/obo/MONDO_0002510	http://identifiers.org/mesh/D009373|DOID:3095	
MONDO:0002511	biolink:Disease	stenosis of lacrimal sac		DOID:3096|SCTID:11772001|ICD9:375.54	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002511	http://identifiers.org/snomedct/11772001|DOID:3096	
HGNC:6050	biolink:NamedThing	IMPA1			mondo.json		http://identifiers.org/hgnc/6050		
UBERON:0011133	biolink:AnatomicalEntity	intermetatarsal joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011133		
UBERON:0011132	biolink:AnatomicalEntity	intercarpal joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011132		
UBERON:0011131	biolink:AnatomicalEntity	intermetacarpal joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011131		
UBERON:0011137	biolink:AnatomicalEntity	axial skeletal system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011137		
NCBITaxon:85512	biolink:OrganismalEntity	Dicondylia		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_85512		
UBERON:0011136	biolink:AnatomicalEntity	ligament of vertebral column			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011136		
UBERON:0011135	biolink:AnatomicalEntity	intervertebral cartilage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011135		
UBERON:0011134	biolink:AnatomicalEntity	nonsynovial joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011134		
MONDO:0014501	biolink:Disease	macular degeneration, early-onset		OMIM:616118|UMLS:C4015286	mondo.json	EOMD|macular degeneration, early-onset	http://purl.obolibrary.org/obo/MONDO_0014501	UMLS:C4015286|https://omim.org/entry/616118	
MONDO:0014500	biolink:Disease	atrial conduction disease	Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted.	Orphanet:436242|OMIM:616117|EFO:0005304|UMLS:C4015285	mondo.json	CARDIAC conduction disease with or without dilated cardiomyopathy|CCDD|familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease	http://purl.obolibrary.org/obo/MONDO_0014500	UMLS:C4015285|Orphanet:436242|https://omim.org/entry/616117	ordo_disease
MONDO:0014505	biolink:Disease	developmental and epileptic encephalopathy, 27	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene.	UMLS:C4015316|DOID:0080444|OMIM:616139	mondo.json	early infantile epileptic encephalopathy caused by mutation in GRIN2B|DEE27|EIEE27|developmental and epileptic encephalopathy 27|epileptic encephalopathy, early infantile, 27|epileptic encephalopathy, early infantile, type 27|GRIN2B early infantile epileptic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0014505	DOID:0080444|UMLS:C4015316|https://omim.org/entry/616139	
MONDO:0014504	biolink:Disease	Perrault syndrome 5	Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene.	UMLS:C4015307|OMIM:616138	mondo.json	Perrault syndrome caused by mutation in TWNK|PRLTS5|Perrault syndrome type 5|Perrault syndrome 5|TWNK Perrault syndrome	http://purl.obolibrary.org/obo/MONDO_0014504	UMLS:C4015307|https://omim.org/entry/616138	
MONDO:0014503	biolink:Disease	autosomal recessive spinocerebellar ataxia 17	Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene.	Orphanet:453521|UMLS:C4015301|DOID:0080064|OMIM:616127	mondo.json	SCAR17|spinocerebellar ataxia autosomal recessive type 17|autosomal recessive cerebellar ataxia due to CWF19L1 deficiency|autosomal recessive congenital cerebellar ataxia caused by mutation in CWF19L1|spinocerebellar ataxia, autosomal recessive type 17|autosomal recessive spinocerebellar ataxia type 17|CWF19L1 autosomal recessive congenital cerebellar ataxia|spinocerebellar ataxia, autosomal recessive 17	http://purl.obolibrary.org/obo/MONDO_0014503	DOID:0080064|UMLS:C4015301|Orphanet:453521|https://omim.org/entry/616127	ordo_disease
MONDO:0014502	biolink:Disease	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections.	UMLS:C4015293|Orphanet:319563|OMIM:616126	mondo.json	immunodeficiency 38|IMD38|immunodeficiency 38, Mycobacteriosis, autosomal recessive|immunodeficiency 38 with basal ganglia calcification|ISG15 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|MSMD due to complete ISG15 deficiency|ISG15 deficiency, autosomal recessive|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in ISG15	http://purl.obolibrary.org/obo/MONDO_0014502	Orphanet:319563|UMLS:C4015293|https://omim.org/entry/616126	predisposition|ordo_disease
MONDO:0002509	biolink:Disease	non-specific granulomatous orchitis	Granulomatous inflammation of the testis. It is characterized by the formation of granulomas around the seminiferous tubules. History of trauma may be present. It is assumed to be a reactive process due to autoimmune phenomena.	SCTID:50390006|DOID:3089|NCIT:C27162|UMLS:C0436545	mondo.json	granulomatous orchitis	http://purl.obolibrary.org/obo/MONDO_0002509	NCIT:C27162|http://identifiers.org/snomedct/50390006|UMLS:C0436545|DOID:3089	
HGNC:6052	biolink:NamedThing	IMPDH1			mondo.json		http://identifiers.org/hgnc/6052		
MONDO:0002505	biolink:Disease	childhood astrocytic tumor	An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location.	DOID:3079|NCIT:C9022|UMLS:C1321865	mondo.json	astrocytic tumors, childhood|childhood astrocytic neoplasm|juvenile astrocytoma (morphologic abnormality)|astrocytic tumor of childhood|pediatric astrocytic tumor|childhood astrocytic tumor|pediatric astrocytoma|childhood astrocytic tumour|juvenile astrocytoma|pediatric astrocytic neoplasm|astrocytic tumor	http://purl.obolibrary.org/obo/MONDO_0002505	UMLS:C1321865|NCIT:C9022|DOID:3079	
HGNC:6055	biolink:NamedThing	IMPG1			mondo.json		http://identifiers.org/hgnc/6055		
MONDO:0002506	biolink:Disease	obsolete early myoclonic encephalopathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002506		
MONDO:0002507	biolink:Disease	gingival overgrowth	Excessive growth of the gingiva either by an increase in the size of the constituent cells (gingival hypertrophy) or by an increase in their number (gingival hyperplasia). (From Jablonski's Dictionary of Dentistry, 1992, p574)	SCTID:54711002|MESH:D019214|ICD9:523.8|DOID:3086	mondo.json	gingival enlargement	http://purl.obolibrary.org/obo/MONDO_0002507	http://identifiers.org/mesh/D019214|http://identifiers.org/snomedct/54711002|DOID:3086	
MONDO:0002508	biolink:Disease	gingivitis	A disorder involving inflammation of the gums; may affect surrounding and supporting structures of the teeth.	MESH:D005891|DOID:3087|NCIT:C34636|ICD9:523.10|UMLS:C0017574|ICD9:523.1|SCTID:66383009|ICD9:523.0	mondo.json	gingiva inflammation|inflammation of gingiva|acute gingivitis|chronic gingivitis|gingivitis	http://purl.obolibrary.org/obo/MONDO_0002508	http://identifiers.org/snomedct/66383009|http://identifiers.org/mesh/D005891|UMLS:C0017574|NCIT:C34636|DOID:3087	
MONDO:0002523	biolink:Disease	cutaneous mucinosis	The mucinoses are a diverse group of disorders which have in common the deposition of basophilic, finely granular and stringy material (mucin) in the connective tissues of the dermis (dermal mucinoses), in the pilosebaceous follicles (follicular mucinoses), or in the epidermis and tumors derived therefrom (epithelial mucinoses).	SCTID:402721001|MESH:D017520|ICD9:701.8|UMLS:C0162855|DOID:3141	mondo.json	mucinosis|mucinosis affecting the skin|mucinoses	http://purl.obolibrary.org/obo/MONDO_0002523	DOID:3141|UMLS:C0162855|http://identifiers.org/snomedct/402721001|http://identifiers.org/mesh/D017520	
MONDO:0002524	biolink:Disease	obsolete hyperlipoproteinemia type III			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002524		
MONDO:0002525	biolink:Disease	inherited lipid metabolism disorder	An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production.	SCTID:267431006|Orphanet:309005|ICD9:272.8|ICD9:272.9|DOID:3146|NCIT:C97092|UMLS:C0154251|MedDRA:10061227	mondo.json	lipid metabolism disorder|disorder of lipid metabolism|dyslipidemia|fatty acid metabolism disorder	http://purl.obolibrary.org/obo/MONDO_0002525	DOID:3146|Orphanet:309005|http://identifiers.org/snomedct/267431006|UMLS:C0154251|NCIT:C97092	disease_grouping|ordo_group_of_disorders
MONDO:0002526	biolink:Disease	dermal unilateral segmental cavernous angioma		DOID:3148|UMLS:C0474966	mondo.json	unilateral segmental cavernous hemangioma|unilateral segmental cavernous hemangioma of the skin	http://purl.obolibrary.org/obo/MONDO_0002526	DOID:3148|UMLS:C0474966	
CHEBI:26979	biolink:ChemicalSubstance	organic heterotricyclic compound	An organic tricyclic compound in which at least one of the rings of the tricyclic skeleton contains one or more heteroatoms.		mondo.json	heterotricyclic compounds|organic heterotricyclic compounds	http://purl.obolibrary.org/obo/CHEBI_26979		
MONDO:0002520	biolink:Disease	hepatic porphyria	A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.	GTR:AN0932921|Orphanet:95157|SCTID:55056006|UMLS:C0162533|DOID:3133|UMLS:CN552491|MESH:D017094	mondo.json	liver porphyria|porphyria, hepatic|porphyria of liver|ALAD deficiency|porphobilinogen synthase deficiency|acute porphyria|Delta-aminolevulinate dehydratase deficiency|hepatic Porphyrias|hepatic porphyria|acute hepatic porphyria	http://purl.obolibrary.org/obo/MONDO_0002520	UMLS:C0162533|DOID:3133|Orphanet:95157|http://identifiers.org/mesh/D017094|UMLS:CN552491|http://identifiers.org/snomedct/55056006	ordo_group_of_disorders|disease_grouping
UBERON:0001799	biolink:AnatomicalEntity	vitreous chamber of eyeball			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001799		
MONDO:0002521	biolink:Disease	obsolete multiple symmetrical lipomatosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002521		
MONDO:0002522	biolink:Disease	tenosynovial giant cell tumor	A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse.	UMLS:C1318543|ICD9:727.89|ICDO:9252/0|EFO:1000562|NCIT:C3402|ICD9:727.02|DOID:314|SCTID:310605004|SCTID:95412009	mondo.json	tenosynovial giant cell neoplasm|giant cell neoplasm of tendon sheath|tenosynovial giant cell tumor|tendon sheath giant cell neoplasm|giant cell tumor of the Tenosynovium|giant cell neoplasm of Tenosynovium|giant cell neoplasm of the Tenosynovium|giant cell tumor of Tenosynovium|tendon sheath giant cell tumor|giant cell tumor of tendon sheath|fibrous histiocytoma of tendon sheath	http://purl.obolibrary.org/obo/MONDO_0002522	UMLS:C1318543|NCIT:C3402|DOID:314|http://identifiers.org/snomedct/310605004	
UBERON:0011120	biolink:AnatomicalEntity	laryngeal joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011120		
UBERON:0011119	biolink:AnatomicalEntity	carpometacarpal joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011119		
UBERON:0011118	biolink:AnatomicalEntity	tarsometatarsal joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011118		
UBERON:0013778	biolink:AnatomicalEntity	skin of sole of pes			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013778		
HGNC:6062	biolink:NamedThing	ING1			mondo.json		http://identifiers.org/hgnc/6062		
CHEBI:24319	biolink:ChemicalSubstance	EC 6.3.1.2 (glutamate--ammonia ligase) inhibitor	An EC 6.3.* (C-N bond-forming ligase) inhibitor that interferes with the action of glutamate--ammonia ligase (EC 6.3.1.2).		mondo.json	EC 6.3.1.2 inhibitors|glutamate--ammonia ligase (EC 6.3.1.2) inhibitor|L-glutamate:ammonia ligase (ADP-forming) inhibitor|glutamate--ammonia ligase inhibitors|L-glutamine synthetase inhibitor|glutamine synthetase inhibitor|glutamylhydroxamic synthetase inhibitors|glutamine synthetase inhibitors|glutamylhydroxamic synthetase inhibitor|L-glutamine synthetase inhibitors|glutamate--ammonia ligase inhibitor|L-glutamate:ammonia ligase (ADP-forming) inhibitors|glutamate--ammonia ligase (EC 6.3.1.2) inhibitors|EC 6.3.1.2 (glutamate--ammonia ligase) inhibitors|EC 6.3.1.2 inhibitor	http://purl.obolibrary.org/obo/CHEBI_24319		
CHEBI:24318	biolink:ChemicalSubstance	glutamine family amino acid	An L-alpha-amino acid which is L-glutamic acid or any of the essential amino acids biosynthesised from it (glutamine, proline and arginine). A closed class.		mondo.json	glutamine family amino acids	http://purl.obolibrary.org/obo/CHEBI_24318		
MONDO:0002516	biolink:Disease	digestive system cancer	A primary or metastatic malignant neoplasm involving any part of the digestive system.	NCIT:C4890|ICD9:239.0|ICD10CM:C15-C26|DOID:3119	mondo.json	malignant digestive system neoplasm|GI tumor|malignant gastrointestinal system neoplasm|malignant neoplasm of digestive system|malignant gastrointestinal neoplasm|gastrointestinal system cancer|gastrointestinal tract cancer|cancer of digestive system|digestive system cancer	http://purl.obolibrary.org/obo/MONDO_0002516	NCIT:C4890|http://purl.bioontology.org/ontology/ICD10CM/C15-C26|DOID:3119	
MONDO:0002517	biolink:Disease	tenosynovitis of foot and ankle		DOID:312|ICD9:727.06	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002517	DOID:312	
MONDO:0002518	biolink:Disease	gallbladder papillary neoplasm	A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the gallbladder. Intraepithelial neoplasia is present.	UMLS:C1333754|NCIT:C7130|DOID:3120	mondo.json	intracystic papillary neoplasm|gall bladder papillary epithelial neoplasm|gallbladder papillomatosis|gallbladder papillary neoplasm	http://purl.obolibrary.org/obo/MONDO_0002518	UMLS:C1333754|NCIT:C7130|DOID:3120	
MONDO:0002519	biolink:Disease	anus disorder	A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma.	UMLS:C1301262|MESH:D001004|UMLS:C0003462|NCIT:C26695|DOID:3128|UMLS:C0016167|SCTID:32110003	mondo.json	fissure in ano|anal ulcer|anus disease|Ulcer of anus|anal fissure|nontraumatic tear of anus|anal disorder|anus disease or disorder|anal fissure and fistula|disorder of anal region|disorder of anus|disease of anus|anal disease|disease or disorder of anus|solitary anal ulcer	http://purl.obolibrary.org/obo/MONDO_0002519	UMLS:C0016167|NCIT:C26695|http://identifiers.org/snomedct/32110003|UMLS:C0003462|http://identifiers.org/mesh/D001004|UMLS:C1301262|DOID:3128	
UBERON:0001705	biolink:AnatomicalEntity	nail			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001705		
UBERON:0001707	biolink:AnatomicalEntity	nasal cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001707		
UBERON:0001701	biolink:AnatomicalEntity	glossopharyngeal ganglion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001701		
UBERON:0001700	biolink:AnatomicalEntity	geniculate ganglion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001700		
UBERON:0001703	biolink:AnatomicalEntity	neurocranium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001703		
UBERON:0001709	biolink:AnatomicalEntity	upper jaw region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001709		
UBERON:0001708	biolink:AnatomicalEntity	jaw skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001708		
UBERON:0001710	biolink:AnatomicalEntity	lower jaw region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001710		
CL:1001609	biolink:Cell	muscle fibroblast	Fibroblast from muscle organ.	CALOHA:TS-0643	mondo.json		http://purl.obolibrary.org/obo/CL_1001609		
CL:1001608	biolink:Cell	foreskin fibroblast	Fibroblast from foreskin.	CALOHA:TS-0384	mondo.json	BJ fibroblast	http://purl.obolibrary.org/obo/CL_1001608		
CL:1001607	biolink:Cell	articular chondrocyte	Chondrocyte forming the hyaline cartilage found in joints.	CALOHA:TS-0056	mondo.json		http://purl.obolibrary.org/obo/CL_1001607		
CL:1001606	biolink:Cell	foreskin keratinocyte	Keratinocyte from foreskin.	CALOHA:TS-0385	mondo.json		http://purl.obolibrary.org/obo/CL_1001606		
CL:1001603	biolink:Cell	lung macrophage	Circulating macrophages and tissue macrophages (alveolar macrophages) of lung.	CALOHA:TS-0576	mondo.json	lung macrophages	http://purl.obolibrary.org/obo/CL_1001603		
CL:1001602	biolink:Cell	cerebral cortex endothelial cell	Endothelial cells forming the walls of the capillaries within the cerebral cortex.	CALOHA:TS-2372	mondo.json	cerebral cortex endothelial cells|endothelial cells of cerebral cortex	http://purl.obolibrary.org/obo/CL_1001602		
CL:1001601	biolink:Cell	adrenal gland glandular cell	Hormone secreting cell located in the cortex of adrenal gland. Glandular cells in the adrenal cortex secrete mineralocorticoids, glucocorticoids and androgens.	CALOHA:TS-2177	mondo.json	adrenal gland glandular cells|suprarenal gland glandular cell|adrenal glandular cell	http://purl.obolibrary.org/obo/CL_1001601		
GO:1901192	biolink:NamedThing	positive regulation of formation of translation initiation ternary complex	Any process that activates or increases the frequency, rate or extent of formation of translation initiation ternary complex.		mondo.json	upregulation of translation initiation ternary complex assembly|upregulation of formation of translation initiation ternary complex|activation of translation initiation ternary complex assembly|up-regulation of translation initiation ternary complex assembly|up-regulation of formation of translation initiation ternary complex|up regulation of translation initiation ternary complex assembly|up regulation of formation of translation initiation ternary complex|positive regulation of translation initiation ternary complex assembly|activation of formation of translation initiation ternary complex	http://purl.obolibrary.org/obo/GO_1901192		
GO:1901190	biolink:NamedThing	regulation of formation of translation initiation ternary complex	Any process that modulates the frequency, rate or extent of formation of translation initiation ternary complex.		mondo.json	regulation of translation initiation ternary complex assembly	http://purl.obolibrary.org/obo/GO_1901190		
GO:1901191	biolink:NamedThing	negative regulation of formation of translation initiation ternary complex	Any process that stops, prevents or reduces the frequency, rate or extent of formation of translation initiation ternary complex.		mondo.json	down regulation of translation initiation ternary complex assembly|down regulation of formation of translation initiation ternary complex|downregulation of formation of translation initiation ternary complex|downregulation of translation initiation ternary complex assembly|inhibition of formation of translation initiation ternary complex|inhibition of translation initiation ternary complex assembly|down-regulation of translation initiation ternary complex assembly|down-regulation of formation of translation initiation ternary complex|negative regulation of translation initiation ternary complex assembly	http://purl.obolibrary.org/obo/GO_1901191		
HGNC:8604	biolink:NamedThing	PAPSS2			mondo.json		http://identifiers.org/hgnc/8604		
HGNC:8607	biolink:NamedThing	PRKN			mondo.json		http://identifiers.org/hgnc/8607		
CHEBI:48379	biolink:ChemicalSubstance	isourea	A carboximidic acid that is the imidic acid tautomer of urea, H2NC(=NH)OH, and its hydrocarbyl derivatives.		mondo.json	isoureas|isoureas	http://purl.obolibrary.org/obo/CHEBI_48379		
UBERON:0001749	biolink:AnatomicalEntity	parenchyma of parathyroid gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001749		
CHEBI:48378	biolink:ChemicalSubstance	carboximidic acid			mondo.json	carboximidic acids|carboximidic acid|carboximidic acids	http://purl.obolibrary.org/obo/CHEBI_48378		
UBERON:0001748	biolink:AnatomicalEntity	capsule of parathyroid gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001748		
UBERON:0001744	biolink:AnatomicalEntity	lymphoid tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001744		
UBERON:0001747	biolink:AnatomicalEntity	parenchyma of thyroid gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001747		
UBERON:0001746	biolink:AnatomicalEntity	capsule of thyroid gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001746		
HGNC:8609	biolink:NamedThing	PARN			mondo.json		http://identifiers.org/hgnc/8609		
CHEBI:48377	biolink:ChemicalSubstance	imidic acid	Compounds derived from oxoacids RkE(=O)l(OH)m (l =/= 0) by replacing =O by =NR; thus tautomers of amides. In organic chemistry an unspecified imidic acid is generally a carboximidic acid, RC(=NR)(OH).		mondo.json	imidic acids|imidic acids|imino acids|imidic acid	http://purl.obolibrary.org/obo/CHEBI_48377		
CHEBI:48376	biolink:ChemicalSubstance	carbamimidic acid			mondo.json	HO-C(=NH)-NH2|pseudourea|H2N-C(=NH)-OH|H2N-C(OH)=NH|carbamimic acid|Isoharnstoff|carbonamidimidic acid|carbamimidic acid|isourea	http://purl.obolibrary.org/obo/CHEBI_48376		
UBERON:0013727	biolink:AnatomicalEntity	notochordal fluid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013727		
CHEBI:36388	biolink:ChemicalSubstance	saturated organic heterocyclic parent			mondo.json	saturated heterocyclic parent hydride|saturated heterocyclic parent hydrides|saturated organic heterocyclic parents	http://purl.obolibrary.org/obo/CHEBI_36388		
CHEBI:36389	biolink:ChemicalSubstance	saturated organic heteromonocyclic parent			mondo.json	saturated heteromonocyclic parent hydride|saturated organic heteromonocyclic parents|saturated heteromonocyclic parent hydrides	http://purl.obolibrary.org/obo/CHEBI_36389		
HGNC:8616	biolink:NamedThing	PAX2			mondo.json		http://identifiers.org/hgnc/8616		
HGNC:8615	biolink:NamedThing	PAX1			mondo.json		http://identifiers.org/hgnc/8615		
HGNC:8618	biolink:NamedThing	PAX4			mondo.json		http://identifiers.org/hgnc/8618		
HGNC:8617	biolink:NamedThing	PAX3			mondo.json		http://identifiers.org/hgnc/8617		
UBERON:0001752	biolink:AnatomicalEntity	enamel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001752		
UBERON:0001751	biolink:AnatomicalEntity	dentine			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001751		
UBERON:0001754	biolink:AnatomicalEntity	dental pulp			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001754		
UBERON:0001753	biolink:AnatomicalEntity	cementum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001753		
UBERON:0001750	biolink:AnatomicalEntity	lacrimal apparatus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001750		
UBERON:0001737	biolink:AnatomicalEntity	larynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001737		
UBERON:0001739	biolink:AnatomicalEntity	laryngeal cartilage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001739		
UBERON:0001734	biolink:AnatomicalEntity	palatine uvula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001734		
UBERON:0001733	biolink:AnatomicalEntity	soft palate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001733		
UBERON:0001736	biolink:AnatomicalEntity	submandibular gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001736		
UBERON:0001735	biolink:AnatomicalEntity	tonsillar ring			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001735		
CHEBI:48360	biolink:ChemicalSubstance	amphiprotic solvent	Self-ionizing solvent possessing both characteristics of Bronsted acids and bases.		mondo.json	amphiprotic solvent	http://purl.obolibrary.org/obo/CHEBI_48360		
UBERON:0013720	biolink:AnatomicalEntity	dartos muscle of labia majora			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013720		
HGNC:8619	biolink:NamedThing	PAX5			mondo.json		http://identifiers.org/hgnc/8619		
HGNC:8623	biolink:NamedThing	PAX9			mondo.json		http://identifiers.org/hgnc/8623		
HGNC:8622	biolink:NamedThing	PAX8			mondo.json		http://identifiers.org/hgnc/8622		
UBERON:0013718	biolink:AnatomicalEntity	dartos muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013718		
HGNC:8624	biolink:NamedThing	PAXIP1			mondo.json		http://identifiers.org/hgnc/8624		
UBERON:0013719	biolink:AnatomicalEntity	dartos muscle of scrotum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013719		
UBERON:0001743	biolink:AnatomicalEntity	ligament of larynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001743		
UBERON:0001742	biolink:AnatomicalEntity	epiglottic cartilage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001742		
HGNC:8621	biolink:NamedThing	PAX7			mondo.json		http://identifiers.org/hgnc/8621		
HGNC:8620	biolink:NamedThing	PAX6			mondo.json		http://identifiers.org/hgnc/8620		
UBERON:0001727	biolink:AnatomicalEntity	taste bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001727		
CHEBI:48356	biolink:ChemicalSubstance	protic solvent	A polar solvent that is capable of acting as a hydron (proton) donor.		mondo.json	protogenic solvent	http://purl.obolibrary.org/obo/CHEBI_48356		
UBERON:0001726	biolink:AnatomicalEntity	papilla of tongue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001726		
CHEBI:48359	biolink:ChemicalSubstance	protophilic solvent	Solvent that is capable of acting as a hydron (proton) acceptor.		mondo.json	hydrogen bond acceptor solvent|HBA solvent|protophilic solvent	http://purl.obolibrary.org/obo/CHEBI_48359		
UBERON:0001729	biolink:AnatomicalEntity	oropharynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001729		
UBERON:0001728	biolink:AnatomicalEntity	nasopharynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001728		
UBERON:0001723	biolink:AnatomicalEntity	tongue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001723		
UBERON:0001725	biolink:AnatomicalEntity	cranial synchondrosis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001725		
UBERON:0001724	biolink:AnatomicalEntity	sphenoidal sinus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001724		
CHEBI:48355	biolink:ChemicalSubstance	non-polar solvent			mondo.json		http://purl.obolibrary.org/obo/CHEBI_48355		
CHEBI:48354	biolink:ChemicalSubstance	polar solvent	A solvent that is composed of polar molecules. Polar solvents can dissolve ionic compounds or ionisable covalent compounds.		mondo.json	polar solvent|polar solvents	http://purl.obolibrary.org/obo/CHEBI_48354		
UBERON:0013705	biolink:AnatomicalEntity	fascia of Scarpa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013705		
HGNC:8636	biolink:NamedThing	PC			mondo.json		http://identifiers.org/hgnc/8636		
UBERON:0013701	biolink:AnatomicalEntity	main body axis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013701		
UBERON:0013702	biolink:AnatomicalEntity	body proper			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013702		
UBERON:0013703	biolink:AnatomicalEntity	integumentary projection			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013703		
UBERON:0013704	biolink:AnatomicalEntity	notochordal canal			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013704		
CHEBI:36360	biolink:ChemicalSubstance	phosphorus oxoacids and derivatives			mondo.json		http://purl.obolibrary.org/obo/CHEBI_36360		
UBERON:0001732	biolink:AnatomicalEntity	pharyngeal tonsil			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001732		
UBERON:0001731	biolink:AnatomicalEntity	cavity of pharynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001731		
UBERON:0001716	biolink:AnatomicalEntity	secondary palate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001716		
UBERON:0001715	biolink:AnatomicalEntity	oculomotor nuclear complex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001715		
UBERON:0001712	biolink:AnatomicalEntity	upper eyelid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001712		
UBERON:0001711	biolink:AnatomicalEntity	eyelid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001711		
UBERON:0001714	biolink:AnatomicalEntity	cranial ganglion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001714		
UBERON:0001713	biolink:AnatomicalEntity	lower eyelid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001713		
GO:0097384	biolink:NamedThing	cellular lipid biosynthetic process	The chemical reactions and pathways resulting in the formation of lipids, as carried out by individual cells.		mondo.json	cellular lipid synthesis|cellular lipid formation|cellular lipid biosynthesis|cellular lipid anabolism	http://purl.obolibrary.org/obo/GO_0097384		
UBERON:0013700	biolink:AnatomicalEntity	axial musculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013700		
HGNC:8646	biolink:NamedThing	PCBD1			mondo.json		http://identifiers.org/hgnc/8646		
UBERON:0001720	biolink:AnatomicalEntity	cochlear nucleus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001720		
GO:1903759	biolink:NamedThing	obsolete signal transduction involved in regulation of aerobic respiration	OBSOLETE. Any signal transduction that is involved in regulation of aerobic respiration.		mondo.json	signalling pathway involved in regulation of aerobic respiration|signaling cascade involved in regulation of aerobic respiration|signaling pathway involved in regulation of aerobic respiration|signalling cascade involved in regulation of aerobic respiration	http://purl.obolibrary.org/obo/GO_1903759		
GO:0061311	biolink:NamedThing	cell surface receptor signaling pathway involved in heart development	The series of molecular signals initiated by a ligand the binding to its receptor on the surface of a cell, which contributes to the progression of the heart over time.		mondo.json	cell surface receptor linked signaling pathway involved in heart development|cell surface receptor linked signalling pathway involved in heart development	http://purl.obolibrary.org/obo/GO_0061311		
GO:2000112	biolink:NamedThing	regulation of cellular macromolecule biosynthetic process	Any process that modulates the frequency, rate or extent of cellular macromolecule biosynthetic process.		mondo.json	regulation of cellular macromolecule anabolism|regulation of cellular macromolecule synthesis|regulation of cellular biopolymer biosynthetic process|regulation of cellular macromolecule formation|regulation of cellular macromolecule biosynthesis	http://purl.obolibrary.org/obo/GO_2000112		
GO:2000113	biolink:NamedThing	negative regulation of cellular macromolecule biosynthetic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular macromolecule biosynthetic process.		mondo.json	negative regulation of cellular macromolecule formation|negative regulation of cellular macromolecule biosynthesis|negative regulation of cellular macromolecule anabolism|negative regulation of cellular macromolecule synthesis|negative regulation of cellular biopolymer biosynthetic process	http://purl.obolibrary.org/obo/GO_2000113		
GO:1903771	biolink:NamedThing	positive regulation of beta-galactosidase activity	Any process that activates or increases the frequency, rate or extent of beta-galactosidase activity.		mondo.json	up regulation of beta-D-lactosidase activity|upregulation of trilactase activity|up regulation of beta-D-galactoside galactohydrolase activity|activation of lactozym|activation of lactose hydrolysis|activation of beta-galactosidase activity|upregulation of lactose hydrolysis|upregulation of lactozym|up regulation of maxilact|up regulation of oryzatym|activation of beta-D-lactosidase activity|positive regulation of beta-D-lactosidase activity|activation of S 2107|activation of beta-D-galactoside galactohydrolase activity|upregulation of S 2107|up-regulation of hydrolact|positive regulation of exo-(1->4)-beta-D-galactanase activity|activation of sumiklat|up-regulation of beta-D-galactoside galactohydrolase activity|up-regulation of oryzatym|up-regulation of maxilact|upregulation of sumiklat|positive regulation of lactozym|up regulation of exo-(1->4)-beta-D-galactanase activity|up-regulation of beta-D-galactanase activity|upregulation of beta-galactosidase activity|positive regulation of lactose hydrolysis|up-regulation of beta-lactosidase activity|upregulation of beta-D-lactosidase activity|up regulation of hydrolact|positive regulation of S 2107|up regulation of lactozym|up regulation of lactose hydrolysis|up-regulation of trilactase activity|activation of exo-(1->4)-beta-D-galactanase activity|up-regulation of exo-(1->4)-beta-D-galactanase activity|up regulation of beta-D-galactanase activity|positive regulation of sumiklat|positive regulation of hydrolact|up regulation of beta-lactosidase activity|up regulation of S 2107|activation of beta-D-galactanase activity|positive regulation of beta-D-galactanase activity|upregulation of beta-D-galactoside galactohydrolase activity|activation of maxilact|up-regulation of lactose hydrolysis|up-regulation of lactozym|up regulation of trilactase activity|activation of beta-lactosidase activity|up regulation of sumiklat|activation of oryzatym|activation of trilactase activity|upregulation of maxilact|upregulation of oryzatym|positive regulation of beta-lactosidase activity|positive regulation of trilactase activity|up-regulation of beta-galactosidase activity|upregulation of hydrolact|up-regulation of S 2107|up-regulation of sumiklat|up-regulation of beta-D-lactosidase activity|activation of hydrolact|positive regulation of beta-D-galactoside galactohydrolase activity|upregulation of beta-D-galactanase activity|positive regulation of maxilact|upregulation of exo-(1->4)-beta-D-galactanase activity|upregulation of beta-lactosidase activity|up regulation of beta-galactosidase activity|positive regulation of oryzatym	http://purl.obolibrary.org/obo/GO_1903771		
GO:1903770	biolink:NamedThing	negative regulation of beta-galactosidase activity	Any process that stops, prevents or reduces the frequency, rate or extent of beta-galactosidase activity.		mondo.json	negative regulation of lactozym|down-regulation of lactose hydrolysis|negative regulation of lactose hydrolysis|down regulation of sumiklat|down-regulation of lactozym|down regulation of beta-D-galactanase activity|down regulation of beta-lactosidase activity|down-regulation of S 2107|downregulation of beta-D-galactoside galactohydrolase activity|negative regulation of S 2107|downregulation of hydrolact|down regulation of trilactase activity|downregulation of maxilact|downregulation of oryzatym|down-regulation of sumiklat|negative regulation of sumiklat|down-regulation of beta-galactosidase activity|downregulation of beta-D-galactanase activity|inhibition of lactozym|inhibition of beta-D-galactanase activity|inhibition of lactose hydrolysis|down-regulation of beta-D-lactosidase activity|negative regulation of beta-D-lactosidase activity|inhibition of beta-lactosidase activity|downregulation of beta-lactosidase activity|down regulation of beta-D-galactoside galactohydrolase activity|inhibition of S 2107|inhibition of trilactase activity|downregulation of trilactase activity|down regulation of maxilact|inhibition of sumiklat|downregulation of exo-(1->4)-beta-D-galactanase activity|down regulation of oryzatym|inhibition of hydrolact|down regulation of beta-galactosidase activity|inhibition of beta-D-galactoside galactohydrolase activity|down regulation of beta-D-lactosidase activity|downregulation of lactozym|negative regulation of beta-D-galactoside galactohydrolase activity|downregulation of lactose hydrolysis|down-regulation of beta-D-galactoside galactohydrolase activity|negative regulation of maxilact|down-regulation of maxilact|down-regulation of oryzatym|negative regulation of oryzatym|down regulation of exo-(1->4)-beta-D-galactanase activity|downregulation of beta-galactosidase activity|negative regulation of hydrolact|inhibition of beta-galactosidase activity|down-regulation of hydrolact|downregulation of S 2107|downregulation of beta-D-lactosidase activity|inhibition of beta-D-lactosidase activity|downregulation of sumiklat|down-regulation of beta-D-galactanase activity|down regulation of lactozym|down regulation of lactose hydrolysis|negative regulation of beta-D-galactanase activity|inhibition of exo-(1->4)-beta-D-galactanase activity|inhibition of oryzatym|down regulation of hydrolact|negative regulation of beta-lactosidase activity|down-regulation of beta-lactosidase activity|negative regulation of exo-(1->4)-beta-D-galactanase activity|inhibition of maxilact|down-regulation of exo-(1->4)-beta-D-galactanase activity|negative regulation of trilactase activity|down-regulation of trilactase activity|down regulation of S 2107	http://purl.obolibrary.org/obo/GO_1903770		
OBI:0002076	biolink:NamedThing	collection of specimens	A material entity that has two or more specimens as its parts.		mondo.json		http://purl.obolibrary.org/obo/OBI_0002076		
GO:1903779	biolink:NamedThing	regulation of cardiac conduction	Any process that modulates the frequency, rate or extent of cardiac conduction.		mondo.json		http://purl.obolibrary.org/obo/GO_1903779		
GO:1903781	biolink:NamedThing	positive regulation of cardiac conduction	Any process that activates or increases the frequency, rate or extent of cardiac conduction.		mondo.json	upregulation of cardiac conduction|up regulation of cardiac conduction|activation of cardiac conduction|up-regulation of cardiac conduction	http://purl.obolibrary.org/obo/GO_1903781		
GO:1903780	biolink:NamedThing	negative regulation of cardiac conduction	Any process that stops, prevents or reduces the frequency, rate or extent of cardiac conduction.		mondo.json	down regulation of cardiac conduction|inhibition of cardiac conduction|down-regulation of cardiac conduction|downregulation of cardiac conduction	http://purl.obolibrary.org/obo/GO_1903780		
GO:0061337	biolink:NamedThing	cardiac conduction	Transfer of an organized electrical impulse across the heart to coordinate the contraction of cardiac muscles. The process begins with generation of an action potential (in the sinoatrial node (SA) in humans) and ends with a change in the rate, frequency, or extent of the contraction of the heart muscles.		mondo.json		http://purl.obolibrary.org/obo/GO_0061337		
NCBITaxon:12637	biolink:OrganismalEntity	Dengue virus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_12637		
GO:1903789	biolink:NamedThing	regulation of amino acid transmembrane transport	Any process that modulates the frequency, rate or extent of amino acid transmembrane transport.		mondo.json	regulation of amino acid membrane transport	http://purl.obolibrary.org/obo/GO_1903789		
GO:1903788	biolink:NamedThing	positive regulation of glutathione biosynthetic process	Any process that activates or increases the frequency, rate or extent of glutathione biosynthetic process.		mondo.json	up regulation of glutathione anabolism|up-regulation of glutathione synthesis|activation of glutathione anabolism|positive regulation of glutathione anabolism|upregulation of glutathione biosynthesis|upregulation of glutathione biosynthetic process|up-regulation of glutathione formation|up regulation of glutathione synthesis|positive regulation of glutathione biosynthesis|activation of glutathione synthesis|positive regulation of glutathione synthesis|upregulation of glutathione anabolism|up regulation of glutathione formation|up regulation of glutathione biosynthetic process|up regulation of glutathione biosynthesis|activation of glutathione formation|positive regulation of glutathione formation|upregulation of glutathione synthesis|up-regulation of glutathione biosynthesis|up-regulation of glutathione biosynthetic process|activation of glutathione biosynthesis|activation of glutathione biosynthetic process|up-regulation of glutathione anabolism|upregulation of glutathione formation	http://purl.obolibrary.org/obo/GO_1903788		
GO:1903787	biolink:NamedThing	negative regulation of glutathione biosynthetic process	Any process that stops, prevents or reduces the frequency, rate or extent of glutathione biosynthetic process.		mondo.json	down regulation of glutathione biosynthetic process|down regulation of glutathione biosynthesis|down regulation of glutathione formation|inhibition of glutathione biosynthetic process|inhibition of glutathione biosynthesis|inhibition of glutathione synthesis|downregulation of glutathione synthesis|down-regulation of glutathione biosynthetic process|negative regulation of glutathione biosynthesis|down-regulation of glutathione biosynthesis|inhibition of glutathione formation|downregulation of glutathione formation|negative regulation of glutathione anabolism|down-regulation of glutathione anabolism|down regulation of glutathione anabolism|negative regulation of glutathione synthesis|down-regulation of glutathione synthesis|downregulation of glutathione biosynthetic process|downregulation of glutathione biosynthesis|inhibition of glutathione anabolism|down regulation of glutathione synthesis|downregulation of glutathione anabolism|negative regulation of glutathione formation|down-regulation of glutathione formation	http://purl.obolibrary.org/obo/GO_1903787		
GO:1903786	biolink:NamedThing	regulation of glutathione biosynthetic process	Any process that modulates the frequency, rate or extent of glutathione biosynthetic process.		mondo.json	regulation of glutathione synthesis|regulation of glutathione formation|regulation of glutathione anabolism|regulation of glutathione biosynthesis	http://purl.obolibrary.org/obo/GO_1903786		
GO:1903793	biolink:NamedThing	positive regulation of anion transport	Any process that activates or increases the frequency, rate or extent of anion transport.		mondo.json	up regulation of anion transport|activation of anion transport|upregulation of anion transport|up-regulation of anion transport	http://purl.obolibrary.org/obo/GO_1903793		
GO:1903792	biolink:NamedThing	negative regulation of anion transport	Any process that stops, prevents or reduces the frequency, rate or extent of anion transport.		mondo.json	down-regulation of anion transport|down regulation of anion transport|downregulation of anion transport|inhibition of anion transport	http://purl.obolibrary.org/obo/GO_1903792		
GO:1901137	biolink:NamedThing	carbohydrate derivative biosynthetic process	The chemical reactions and pathways resulting in the formation of carbohydrate derivative.		mondo.json	carbohydrate derivative anabolism|carbohydrate derivative synthesis|carbohydrate derivative biosynthesis|carbohydrate derivative formation	http://purl.obolibrary.org/obo/GO_1901137		
GO:1903797	biolink:NamedThing	positive regulation of inorganic anion transmembrane transport	Any process that activates or increases the frequency, rate or extent of inorganic anion transmembrane transport.		mondo.json	up regulation of inorganic anion transmembrane transport|up regulation of transmembrane inorganic anion transport|activation of inorganic anion transmembrane transport|activation of transmembrane inorganic anion transport|positive regulation of transmembrane inorganic anion transport|upregulation of inorganic anion membrane transport|upregulation of inorganic anion transmembrane transport|upregulation of transmembrane inorganic anion transport|positive regulation of inorganic anion membrane transport|up regulation of inorganic anion membrane transport|activation of inorganic anion membrane transport|up-regulation of transmembrane inorganic anion transport|up-regulation of inorganic anion membrane transport|up-regulation of inorganic anion transmembrane transport	http://purl.obolibrary.org/obo/GO_1903797		
GO:1903796	biolink:NamedThing	negative regulation of inorganic anion transmembrane transport	Any process that stops, prevents or reduces the frequency, rate or extent of inorganic anion transmembrane transport.		mondo.json	down regulation of inorganic anion membrane transport|inhibition of inorganic anion membrane transport|negative regulation of inorganic anion membrane transport|down-regulation of inorganic anion membrane transport|negative regulation of transmembrane inorganic anion transport|down-regulation of inorganic anion transmembrane transport|down-regulation of transmembrane inorganic anion transport|down regulation of inorganic anion transmembrane transport|down regulation of transmembrane inorganic anion transport|downregulation of inorganic anion membrane transport|downregulation of inorganic anion transmembrane transport|downregulation of transmembrane inorganic anion transport|inhibition of inorganic anion transmembrane transport|inhibition of transmembrane inorganic anion transport	http://purl.obolibrary.org/obo/GO_1903796		
GO:1901135	biolink:NamedThing	carbohydrate derivative metabolic process	The chemical reactions and pathways involving carbohydrate derivative.		mondo.json	carbohydrate derivative metabolism	http://purl.obolibrary.org/obo/GO_1901135		
GO:1903795	biolink:NamedThing	regulation of inorganic anion transmembrane transport	Any process that modulates the frequency, rate or extent of inorganic anion transmembrane transport.		mondo.json	regulation of transmembrane inorganic anion transport|regulation of inorganic anion membrane transport	http://purl.obolibrary.org/obo/GO_1903795		
GO:0097325	biolink:NamedThing	melanocyte proliferation	The multiplication or reproduction of melanocytes, resulting in the expansion of a cell population. A melanocyte is a pigment cell derived from the neural crest. It contains melanin-filled pigment granules, which give a brown to black appearance.		mondo.json		http://purl.obolibrary.org/obo/GO_0097325		
CHR:9606-chr2q33.1	biolink:NamedThing	2q33.1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr2q33.1		
HGNC:25583	biolink:NamedThing	ODAD2			mondo.json		http://identifiers.org/hgnc/25583		
GO:1901148	biolink:NamedThing	gene expression involved in extracellular matrix organization	Any gene expression that is involved in extracellular matrix organization. Gene expression includes both transcription to produce an RNA transcript, and the translation of that mRNA into protein. Protein maturation is included in gene expression when required to form an active form of a product from an inactive precursor form.		mondo.json	extracellular matrix protein production|expression of extracellular matrix proteins	http://purl.obolibrary.org/obo/GO_1901148		
GO:0061370	biolink:NamedThing	testosterone biosynthetic process	The chemical reactions and pathways resulting in the formation of testosterone, an androgen having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4 C-5.		mondo.json		http://purl.obolibrary.org/obo/GO_0061370		
GO:1901160	biolink:NamedThing	primary amino compound metabolic process	The chemical reactions and pathways involving primary amino compound.		mondo.json	primary amino compound metabolism	http://purl.obolibrary.org/obo/GO_1901160		
MONDO:0002578	biolink:Disease	botryoid rhabdomyosarcoma	A morphologic variant of embryonal rhabdomyosarcoma arising from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.	GARD:0009398|ICD9:171.9|DOID:3255|UMLS:C1306574|NCIT:C9150|SCTID:404052009|UMLS:C1306573	mondo.json	botryoid-type embryonal rhabdomyosarcoma|botryoid sarcoma|sarcoma botryoides|botryoid sarcoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0002578	DOID:3255|http://identifiers.org/snomedct/404052009|UMLS:C1306573|UMLS:C1306574|NCIT:C9150	
UBERON:0011191	biolink:AnatomicalEntity	ophthalmic vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011191		
HGNC:25568	biolink:NamedThing	FANCI			mondo.json		http://identifiers.org/hgnc/25568		
MONDO:0002579	biolink:Disease	orbit embryonal rhabdomyosarcoma	A malignant mesenchymal neoplasm that arises from the orbit. It is characterized by the presence of skeletal muscle tissue exhibiting embryonic features.	DOID:3258|UMLS:C1335127|NCIT:C6246	mondo.json	embryonal rhabdomyosarcoma of the orbit|embryonal rhabdomyosarcoma of orbit	http://purl.obolibrary.org/obo/MONDO_0002579	DOID:3258|NCIT:C6246|UMLS:C1335127	
HGNC:25567	biolink:NamedThing	ATAD3A			mondo.json		http://identifiers.org/hgnc/25567		
HGNC:25566	biolink:NamedThing	SETD5			mondo.json		http://identifiers.org/hgnc/25566		
MONDO:0002574	biolink:Disease	prostate embryonal rhabdomyosarcoma	A malignant mesenchymal neoplasm of the prostate. It is characterized by the presence of skeletal muscle exhibiting embryonic features.	DOID:3251|UMLS:C1335508|NCIT:C5525	mondo.json	embryonal rhabdomyosarcoma (disease) of prostate gland|embryonal rhabdomyosarcoma of prostate|prostate gland embryonal rhabdomyosarcoma (disease)|prostate embryonal rhabdomyosarcoma|embryonal rhabdomyosarcoma of the prostate	http://purl.obolibrary.org/obo/MONDO_0002574	DOID:3251|NCIT:C5525|UMLS:C1335508	
MONDO:0002575	biolink:Disease	obsolete prostate rhabdomyosarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002575		
MONDO:0002576	biolink:Disease	embryonal extrahepatic bile duct rhabdomyosarcoma	An embryonal rhabdomyosarcoma that arises from the extrahepatic bile ducts.	DOID:3253|NCIT:C5847|UMLS:C1333505	mondo.json	extrahepatic bile duct embryonal rhabdomyosarcoma (disease)|extrahepatic bile duct embryonal rhabdomyosarcoma|embryonal extrahepatic bile duct rhabdomyosarcoma|embryonal rhabdomyosarcoma (disease) of extrahepatic bile duct|embryonal rhabdomyosarcoma of extrahepatic bile duct|embryonal rhabdomyosarcoma of the extrahepatic bile duct	http://purl.obolibrary.org/obo/MONDO_0002576	DOID:3253|NCIT:C5847|UMLS:C1333505	
MONDO:0002577	biolink:Disease	extrahepatic bile duct rhabdomyosarcoma	A malignant mesenchymal tumor with skeletal muscle differentiation, arising from the extrahepatic bile ducts.	DOID:3254|UMLS:C2064434|NCIT:C5860	mondo.json	rhabdomyosarcoma of the bile duct|extrahepatic bile duct rhabdomyosarcoma|bile duct rhabdomyosarcoma|bile duct rhabdomyosarcoma (disease)|rhabdomyosarcoma of extrahepatic bile duct|extrahepatic bile duct rhabdomyosarcoma (disease)|rhabdomyosarcoma of the extrahepatic bile duct|rhabdomyosarcoma (disease) of extrahepatic bile duct	http://purl.obolibrary.org/obo/MONDO_0002577	DOID:3254|UMLS:C2064434|NCIT:C5860	
MONDO:0002570	biolink:Disease	high pressure neurological syndrome	A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and seizures. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium.	DOID:3230|UMLS:C0019537|MESH:D006610	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002570	UMLS:C0019537|http://identifiers.org/mesh/D006610|DOID:3230	
MONDO:0002571	biolink:Disease	primary central nervous system lymphoma	A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis.	MedDRA:10036685|ONCOTREE:PCNSL|GARD:0009318|ICD9:200.5|UMLS:C0240803|NCIT:C9301|Orphanet:46135|SCTID:307649006|EFO:1000157|UMLS:C0742472|DOID:3234	mondo.json	primary CNS lymphoma|lymphoma of central nervous system|central nervous system lymphoma|malignant lymphomas of the CNS|primary brain lymphoma|PCNSL|malignant lymphomas of CNS|primary lymphoma, CNS|primary central nervous system lymphoma|CNS lymphoma|microglioma	http://purl.obolibrary.org/obo/MONDO_0002571	http://identifiers.org/snomedct/307649006|Orphanet:46135|NCIT:C9301|DOID:3234	ordo_disease
UBERON:0035165	biolink:AnatomicalEntity	posterior surface of prostate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035165		
UBERON:0011198	biolink:AnatomicalEntity	muscle layer of large intestine			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011198		
MONDO:0002572	biolink:Disease	aspiration pneumonitis	Inflammation of the lungs due to the inhalation of solid or liquid material.	DOID:3240|MESH:D011015|NCIT:C34932|SCTID:422588002|SCTID:155597006|UMLS:C0032290|UMLS:C1761609	mondo.json	chemical pneumonitis|aspiration pneumonia	http://purl.obolibrary.org/obo/MONDO_0002572	NCIT:C34932|UMLS:C1761609|http://identifiers.org/snomedct/155597006|DOID:3240	
UBERON:0011197	biolink:AnatomicalEntity	parathyroid epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011197		
MONDO:0002573	biolink:Disease	obsolete pleomorphic rhabdomyosarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002573		
MONDO:0014567	biolink:Disease	glutamate pyruvate transaminase 2 deficiency		Orphanet:477673|OMIM:616281	mondo.json	postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome|MRT49|GPT2 deficiency|mental retardation, autosomal recessive 49|glutamate pyruvate transaminase 2 deficiency|mental retardation, autosomal recessive type 49|neurodevelopmental disorder with microcephaly and spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0014567	https://omim.org/entry/616281|Orphanet:477673	ordo_disease
MONDO:0014566	biolink:Disease	Charcot-Marie-Tooth disease axonal type 2U	Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.	Orphanet:397735|UMLS:C4084821|OMIM:616280|SCTID:765046002|DOID:0110173	mondo.json	autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation|MARS Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth neuropathy, type 2U|autosomal dominant Charcot-Marie-Tooth disease type 2U|Charcot-Marie-Tooth disease, axonal, type 2U|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2U|Charcot-Marie-Tooth disease type 2 caused by mutation in MARS|autosomal dominant axonal Charcot-Marie-Tooth disease type 2U|CMT2U|Charcot-Marie-Tooth neuropathy type 2U	http://purl.obolibrary.org/obo/MONDO_0014566	https://omim.org/entry/616280|DOID:0110173|http://identifiers.org/snomedct/765046002|Orphanet:397735|UMLS:C4084821	ordo_disease
CL:0001054	biolink:Cell	CD14-positive monocyte	A monocyte that expresses CD14 and is negative for the lineage markers CD3, CD19, and CD20.		mondo.json	monocyte	http://purl.obolibrary.org/obo/CL_0001054		
MONDO:0014565	biolink:Disease	cataract 43	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene.	UMLS:C4225389|OMIM:616279|DOID:0110259|Orphanet:98991	mondo.json	cataract 43|early-onset non-syndromic cataract caused by mutation in UNC45B|UNC45B early-onset non-syndromic cataract|CTRCT43|cataract type 43	http://purl.obolibrary.org/obo/MONDO_0014565	https://omim.org/entry/616279|DOID:0110259|UMLS:C4225389	
MONDO:0014564	biolink:Disease	congenital bile acid synthesis defect 5	Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene.	DOID:0111066|OMIM:616278	mondo.json	CBAS5|ABCD3 congenital bile acid synthesis defect|congenital bile acid synthesis defect caused by mutation in ABCD3|congenital bile acid synthesis defect 5|bile acid synthesis defect, congenital, 5|bile acid synthesis defect, congenital, type 5|congenital bile acid synthesis defect type 5	http://purl.obolibrary.org/obo/MONDO_0014564	DOID:0111066|https://omim.org/entry/616278	
CL:0001059	biolink:Cell	common myeloid progenitor, CD34-positive	A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. These cells are CD34-positive, and express Gata1, Gata2, C/EBPa, and Pu.1.		mondo.json	common myeloid precursor, CD34-positive|multipotential myeloid stem cell|myeloid stem cell|CMP|colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte|CFU-GEMM|CFU-S|pluripotent stem cell (bone marrow)	http://purl.obolibrary.org/obo/CL_0001059		
CHEBI:38925	biolink:ChemicalSubstance	benzopteridine			mondo.json	benzopteridines	http://purl.obolibrary.org/obo/CHEBI_38925		
MONDO:0014569	biolink:Disease	lethal congenital contracture syndrome 7	Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene.	UMLS:C4225386|OMIM:616286	mondo.json	LCCS7|CNTNAP1 lethal congenital contracture syndrome|lethal congenital contracture syndrome type 7|lethal congenital contracture syndrome 7|lethal congenital contracture syndrome caused by mutation in CNTNAP1	http://purl.obolibrary.org/obo/MONDO_0014569	UMLS:C4225386|https://omim.org/entry/616286	
MONDO:0014568	biolink:Disease	hereditary spastic paraplegia 73	Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.	UMLS:C4225387|OMIM:616282|DOID:0110818|Orphanet:444099	mondo.json	autosomal dominant spastic paraplegia 73|SPG73|autosomal dominant spastic paraplegia type 73|hereditary spastic paraplegia type 73|spastic paraplegia 73, autosomal dominant|CPT1C autosomal dominant pure spastic paraplegia|autosomal dominant pure spastic paraplegia caused by mutation in CPT1C	http://purl.obolibrary.org/obo/MONDO_0014568	https://omim.org/entry/616282|UMLS:C4225387|DOID:0110818|Orphanet:444099	ordo_disease
HGNC:13586	biolink:NamedThing	FBXO7			mondo.json		http://identifiers.org/hgnc/13586		
MONDO:0014563	biolink:Disease	mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency		OMIM:616277|UMLS:C4225391|GARD:0013019	mondo.json	ECHS1D|short-chain enoyl-CoA hydratase deficiency|mitochondrial short-chain ENOYL-CoA hydratase 1 deficiency|mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0014563	UMLS:C4225391|https://omim.org/entry/616277	
MONDO:0014562	biolink:Disease	neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome		OMIM:616276|Orphanet:457185|UMLS:C4225392|DOID:0070244	mondo.json	coenzyme Q10 deficiency, primary, type 7|coenzyme Q10 deficiency, primary, 7|COQ10D7|COQ4-related neonatal encephalomyopathy|primary coenzyme Q10 deficiency 7	http://purl.obolibrary.org/obo/MONDO_0014562	Orphanet:457185|DOID:0070244|https://omim.org/entry/616276|UMLS:C4225392	ordo_disease
CHEBI:26948	biolink:ChemicalSubstance	vitamin B1	Any member of the group of 1,3-thiazolium cations that exhibit biological activity against vitamin B1 deficiency in animals. Symptoms of vitamin B1 deficiency include constipation, loss of apetite, fatigue, nausea, delirium, blurry vision and muscle weakness. Severe vitamin B1 deficiency can also lead to a disease known as beriberi. Vitamin B1 consists of the vitamer thiamin and its acid, aldehyde and phosphorylated derivatives (and their corresponding ionized, salt and hydrate forms).		mondo.json	vitamin B1 vitamers|vitamin B1 vitamer|thiamines|vitamin B1|thiamine|vitamins B1|thiamins	http://purl.obolibrary.org/obo/CHEBI_26948		
GO:2000181	biolink:NamedThing	negative regulation of blood vessel morphogenesis	Any process that stops, prevents, or reduces the frequency, rate or extent of blood vessel morphogenesis.		mondo.json		http://purl.obolibrary.org/obo/GO_2000181		
MONDO:0014561	biolink:Disease	3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia	Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the CLPB gene.	Orphanet:445038|DOID:0110003|EFO:0009014|SCTID:764860006|UMLS:C4225393|OMIM:616271	mondo.json	MGA7|3-methylglutaconic aciduria type 7|3-methylglutaconic aciduria type VII|3-methylglutaconic aciduria caused by mutation in CLPB|3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia|3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia|MGCA7|3-Methylglutaconic aciduria, type 7|3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome|CLPB 3-methylglutaconic aciduria|MEGCANN	http://purl.obolibrary.org/obo/MONDO_0014561	Orphanet:445038|http://identifiers.org/snomedct/764860006|https://omim.org/entry/616271|DOID:0110003|UMLS:C4225393	ordo_disease
CL:0001053	biolink:Cell	IgD-negative memory B cell	A memory B cell that lacks expression of surface IgD.		mondo.json	IgD- memory B cell	http://purl.obolibrary.org/obo/CL_0001053		
MONDO:0014560	biolink:Disease	amelogenesis imperfecta type 1F	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMBN gene.	OMIM:616270|UMLS:C4225394|DOID:0110065	mondo.json	AI1F|amelogenesis imperfecta hypoplastic type IF|amelogenesis imperfecta type IF|amelogenesis imperfecta caused by mutation in AMBN|amelogenesis imperfecta, type IF|AMBN amelogenesis imperfecta|amelogenesis imperfecta, hypoplastic type 1F|amelogenesis imperfecta, type 1F	http://purl.obolibrary.org/obo/MONDO_0014560	https://omim.org/entry/616270|UMLS:C4225394|DOID:0110065	
MONDO:0002589	biolink:Disease	obsolete thymoma type AB			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002589		
MONDO:0002585	biolink:Disease	breast fibrocystic change, proliferative type	Breast fibrocystic change characterized by the presence of epithelial cell hyperplasia. Epithelial atypia may be present or absent.	DOID:3274|NCIT:C6940|UMLS:C0334056	mondo.json	fibrocystic disease, proliferative type with atypia|proliferative breast disease|proliferative breast lesion|proliferative type fibrocystic change of breast|proliferative type fibrocystic change of the breast|fibrocystic change, proliferative type with atypia|breast fibrocystic change, proliferative type|benign proliferative breast disease|proliferating lesion of the breast without atypia|proliferative fibrocystic change|proliferating lesion of breast without atypia	http://purl.obolibrary.org/obo/MONDO_0002585	NCIT:C6940|UMLS:C0334056|DOID:3274	
MONDO:0002586	biolink:Disease	thymus cancer	A primary or metastatic malignant neoplasm involving the thymus. This category includes malignant thymomas, thymic lymphomas, primary thymic carcinomas, and metastatic carcinomas from other anatomic sites.	DOID:3277|ICD9:164.0|UMLS:C0751552|NCIT:C4962|SCTID:363434003	mondo.json	malignant Thymus tumor|malignant neoplasm of the Thymus|thymus cancer|malignant thymus neoplasm|thymic neoplasm|thymic tumor|malignant Thymus neoplasm|cancer of thymus|cancer of Thymus|cancer of the Thymus|malignant tumor of Thymus|malignant tumor of the Thymus|Thymus cancer|malignant neoplasm of thymus|malignant neoplasm of Thymus	http://purl.obolibrary.org/obo/MONDO_0002586	UMLS:C0751552|http://identifiers.org/snomedct/363434003|NCIT:C4962|DOID:3277	
GO:0051923	biolink:NamedThing	sulfation	The addition of a sulfate group to a molecule.		mondo.json	sulfonation|phase II metabolism|sulfur addition|sulphation|sulphur addition	http://purl.obolibrary.org/obo/GO_0051923		
MONDO:0002587	biolink:Disease	encapsulated thymoma	A thymoma that is confined within the capsule and may display benign or malignant morphologic characteristics.	DOID:3278|UMLS:C1333383|NCIT:C7386	mondo.json	encapsulated thymoma	http://purl.obolibrary.org/obo/MONDO_0002587	DOID:3278|NCIT:C7386|UMLS:C1333383	
MONDO:0002588	biolink:Disease	thymoma type A	A thymic epithelial neoplasm characterized by the presence of spindle and/or oval neoplastic epithelial cells. Lymphocytic infiltration is minimal or absent. It may be associated with myasthenia gravis or pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. Approximately 20% of the cases occur as stage II or stage III tumors. Type A thymoma generally behaves as a benign tumor and the overall survival is reported to be 100% at 5 and 10 years.	DOID:3279|ICD10CM:D15.0|ICDO:8581/1|NCIT:C6454|UMLS:C1266091|Orphanet:263310	mondo.json	spindle cell thymoma|thymoma, medullary|primary thymic epithelial tumor type A|primary thymic epithelial neoplasm type A|medullary thymoma|thymoma type A	http://purl.obolibrary.org/obo/MONDO_0002588	DOID:3279|NCIT:C6454|Orphanet:263310|UMLS:C1266091	ordo_histopathological_subtype
UBERON:0035174	biolink:AnatomicalEntity	right ear			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035174		
GO:0051926	biolink:NamedThing	negative regulation of calcium ion transport	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	down regulation of calcium ion transport|inhibition of calcium ion transport|downregulation of calcium ion transport|negative regulation of calcium transport|down-regulation of calcium ion transport	http://purl.obolibrary.org/obo/GO_0051926		
MONDO:0002581	biolink:Disease	spindle cell rhabdomyosarcoma	An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck.	SCTID:404055006|NCIT:C6519|DOID:3260|ICD9:171.9|ONCOTREE:SCRMS|ICDO:8912/3|UMLS:C1266134	mondo.json	spindle cell rhabdomyosarcoma (morphologic abnormality)|SCRMS	http://purl.obolibrary.org/obo/MONDO_0002581	NCIT:C6519|UMLS:C1266134|http://identifiers.org/snomedct/404055006|DOID:3260	
UBERON:0035177	biolink:AnatomicalEntity	abdominal part of esophagus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035177		
MONDO:0002582	biolink:Disease	subacute leukemia	A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity.	DOID:3264|ICD9:208.2|ICD9:208.20|SCTID:302855005|UMLS:C0153924	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002582	http://identifiers.org/snomedct/302855005|UMLS:C0153924|DOID:3264	
MONDO:0002583	biolink:Disease	mucinous ovarian cystadenoma	A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells.	SCTID:119422004|NCIT:C4512|UMLS:C0346172|DOID:3267	mondo.json	benign mucinous cystadenoma of the ovary|benign mucinous cystadenoma of ovary|ovarian mucinous cystadenoma|mucinous cystadenoma of the ovary|mucinous cystadenoma of ovary|benign ovarian mucinous cystadenoma|ovary mucinous cystadenoma	http://purl.obolibrary.org/obo/MONDO_0002583	NCIT:C4512|UMLS:C0346172|http://identifiers.org/snomedct/119422004|DOID:3267	
GO:0051924	biolink:NamedThing	regulation of calcium ion transport	Any process that modulates the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	regulation of calcium transport	http://purl.obolibrary.org/obo/GO_0051924		
UBERON:0011185	biolink:AnatomicalEntity	gastrointestinal sphincter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011185		
MONDO:0002584	biolink:Disease	obsolete syringomyelia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002584		
HGNC:25576	biolink:NamedThing	NAXD			mondo.json		http://identifiers.org/hgnc/25576		
CHEBI:85234	biolink:ChemicalSubstance	human blood serum metabolite	Any metabolite (endogenous or exogenous) found in human blood serum samples.		mondo.json	human blood serum metabolites	http://purl.obolibrary.org/obo/CHEBI_85234		
GO:0051928	biolink:NamedThing	positive regulation of calcium ion transport	Any process that activates or increases the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	positive regulation of calcium transport|up-regulation of calcium ion transport|up regulation of calcium ion transport|activation of calcium ion transport|stimulation of calcium ion transport|upregulation of calcium ion transport	http://purl.obolibrary.org/obo/GO_0051928		
MONDO:0002580	biolink:Disease	orbit rhabdomyosarcoma	A malignant mesenchymal neoplasm with skeletal muscle differentiation that arises from the orbit.	NCIT:C4543|UMLS:C0346347|MESH:C537605|SCTID:254994000|DOID:3259	mondo.json	rhabdomyosarcoma of the orbit|rhabdomyosarcoma of orbit|orbital region rhabdomyosarcoma|rhabdomyosarcoma (disease) of orbital region|orbital region rhabdomyosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0002580	NCIT:C4543|UMLS:C0346347|http://identifiers.org/mesh/C537605|DOID:3259|http://identifiers.org/snomedct/254994000	
UBERON:0011189	biolink:AnatomicalEntity	lamina propria of large intestine			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011189		
MONDO:0014556	biolink:Disease	congenital contractures of the limbs and face, hypotonia, and developmental delay	A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases.	UMLS:C4225398|OMIM:616266|EFO:1001868|Orphanet:562528	mondo.json	CLIFAHDD|CLIFAHDD syndrome|congenital contractures of the limbs and face, hypotonia, and developmental delay|congenital limbs-face contractures-hypotonia-developmental delay syndrome	http://purl.obolibrary.org/obo/MONDO_0014556	https://omim.org/entry/616266|UMLS:C4225398|Orphanet:562528	ordo_disorder
GO:2000195	biolink:NamedThing	negative regulation of female gonad development	Any process that stops, prevents, or reduces the frequency, rate or extent of female gonad development.		mondo.json	negative regulation of ovary development|negative regulation of ovarian development	http://purl.obolibrary.org/obo/GO_2000195		
CL:0001066	biolink:Cell	erythroid progenitor cell, mammalian	A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative).	BTO:0004911	mondo.json	blast forming unit erythroid|colony forming unit erythroid|erythroid stem cell|burst forming unit erythroid|CFU-E|BFU-E	http://purl.obolibrary.org/obo/CL_0001066		
GO:2000196	biolink:NamedThing	positive regulation of female gonad development	Any process that activates or increases the frequency, rate or extent of female gonad development.		mondo.json	positive regulation of ovarian development|positive regulation of ovary development	http://purl.obolibrary.org/obo/GO_2000196		
MONDO:0014555	biolink:Disease	peeling skin syndrome type A	Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin.	OMIM:616265|Orphanet:263548|UMLS:C4015729	mondo.json	PSS type A|generalized deciduous skin type A|generalized peeling skin syndrome type A|peeling skin syndrome type 3|non-inflammatory peeling skin syndrome type A|non-inflammatory generalized peeling skin syndrome type A.|peeling skin syndrome 3|PSS3	http://purl.obolibrary.org/obo/MONDO_0014555	https://omim.org/entry/616265|UMLS:C4015729|Orphanet:263548	ordo_clinical_subtype
CL:0001065	biolink:Cell	innate lymphoid cell	A lymphocyte that lacks characteristic T cell, B cell, myeloid cell, and dendritic cell markers, that functions as part of the innate immune response to produce cytokines and other effector responses.		mondo.json		http://purl.obolibrary.org/obo/CL_0001065		
MONDO:0014554	biolink:Disease	obsolete infantile multisystem neurologic-endocrine-pancreatic disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0014554		
CL:0001068	biolink:Cell	ILC1	A group 1 innate lymphoid cell that is non-cytotoxic.		mondo.json		http://purl.obolibrary.org/obo/CL_0001068		
CL:0001067	biolink:Cell	group 1 innate lymphoid cell	An innate lymphoid cell that is capable of producing the type 1 cytokine IFN-gamma, but not Th2 or Th17 cell-associated cytokines.		mondo.json		http://purl.obolibrary.org/obo/CL_0001067		
MONDO:0014553	biolink:Disease	Tenorio syndrome		OMIM:616260|UMLS:C4015710	mondo.json	TENORIO syndrome|Tenorio syndrome|overgrowth, macrocephaly, and intellectual disability syndrome|TNORS	http://purl.obolibrary.org/obo/MONDO_0014553	UMLS:C4015710|https://omim.org/entry/616260	
MONDO:0014559	biolink:Disease	progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome		OMIM:616269|Orphanet:457212|UMLS:C4225395	mondo.json	intellectual disability, autosomal recessive type 48|mental retardation, autosomal recessive type 48|mental retardation, autosomal recessive 48|intellectual disability, autosomal recessive 48|MRT48	http://purl.obolibrary.org/obo/MONDO_0014559	https://omim.org/entry/616269|UMLS:C4225395|Orphanet:457212	ordo_disease
MONDO:0014558	biolink:Disease	autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described.	Orphanet:457193|DOID:0070062|OMIM:616268	mondo.json	intellectual disability, autosomal dominant 32|autosomal dominant mental retardation 32|mental retardation, autosomal dominant 32|Arboleda-Tham syndrome|autosomal dominant non-syndromic intellectual disability 32|intellectual disability, autosomal dominant type 32|KAT6A Syndrome|MRD32|mental retardation, autosomal dominant type 32|autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome|autosomal dominant intellectual disability 32	http://purl.obolibrary.org/obo/MONDO_0014558	https://omim.org/entry/616268|Orphanet:457193|DOID:0070062	ordo_malformation_syndrome
MONDO:0014557	biolink:Disease	ataxia - oculomotor apraxia type 4	Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene.	OMIM:616267|GARD:0013111|UMLS:C4225397|EFO:0009016|Orphanet:459033	mondo.json	ataxia-oculomotor apraxia-4|ataxia - oculomotor apraxia type 4|PNKP oculomotor apraxia or related oculomotor disease|AOA4|ataxia-oculomotor apraxia 4|oculomotor apraxia or related oculomotor disease caused by mutation in PNKP	http://purl.obolibrary.org/obo/MONDO_0014557	UMLS:C4225397|https://omim.org/entry/616267|Orphanet:459033	ordo_disease|gard_rare
OBO:ECTO_9001021	biolink:NamedThing	obsolete exposure to chlorine atom			mondo.json		http://purl.obolibrary.org/obo/ECTO_9001021		
CL:0001060	biolink:Cell	hematopoietic oligopotent progenitor cell, lineage-negative	A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. Cell lacks hematopoeitic lineage markers.		mondo.json		http://purl.obolibrary.org/obo/CL_0001060		
CHEBI:73263	biolink:ChemicalSubstance	cyclooxygenase 3 inhibitor	A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 3.		mondo.json	COX-3 inhibitors|cyclooxygenase 3 inhibitors|cyclooxygenase-3 inhibitor|cyclo-oxygenase 3 inhibitor|cyclooxygenase-3 inhibitors|cyclo-oxygenase 3 inhibitors|COX-3 inhibitor	http://purl.obolibrary.org/obo/CHEBI_73263		
MONDO:0014552	biolink:Disease	lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.	OMIM:616258|Orphanet:439897|UMLS:C4015701	mondo.json	Meckel syndrome 12|MKS12|Meckel syndrome type 12	http://purl.obolibrary.org/obo/MONDO_0014552	https://omim.org/entry/616258|UMLS:C4015701|Orphanet:439897	ordo_malformation_syndrome
MONDO:0014551	biolink:Disease	short stature with nonspecific skeletal abnormalities		UMLS:C4225399|OMIM:616255	mondo.json	short stature with nonspecific skeletal abnormalities|SNSK	http://purl.obolibrary.org/obo/MONDO_0014551	https://omim.org/entry/616255|UMLS:C4225399	
MONDO:0014550	biolink:Disease	long QT syndrome 15	Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene.	DOID:0110656|UMLS:C4015695|OMIM:616249|Orphanet:101016	mondo.json	LQT15|long QT syndrome caused by mutation in CALM2|CALM2 long QT syndrome|long QT syndrome 15|long QT syndrome type 15	http://purl.obolibrary.org/obo/MONDO_0014550	DOID:0110656|https://omim.org/entry/616249|UMLS:C4015695	
GO:2000194	biolink:NamedThing	regulation of female gonad development	Any process that modulates the frequency, rate or extent of female gonad development.		mondo.json	regulation of ovary development|regulation of ovarian development	http://purl.obolibrary.org/obo/GO_2000194		
MONDO:0002556	biolink:Disease	microcystic/reticular schwannoma	The rarest histopathologic subtype of Schwannoma. The reported cases have been located in the gastrointestinal submucosa or subcutaneous tissue. Morphologically it is characterized by the presence of a microcyst-rich network of spindle cells with minimal amount of cytoplasm and Antoni A tissue.	UMLS:C4054526|NCIT:C5321	mondo.json	microcystic/reticular schwannoma	http://purl.obolibrary.org/obo/MONDO_0002556	UMLS:C4054526|NCIT:C5321	
GO:0051930	biolink:NamedThing	regulation of sensory perception of pain	Any process that modulates the frequency, rate or extent of the sensory perception of pain, the series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal.		mondo.json		http://purl.obolibrary.org/obo/GO_0051930		
MONDO:0002557	biolink:Disease	obsolete schwannomatosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002557		
MONDO:0002558	biolink:Disease	melanotic neurilemmoma	A rare circumscribed, non-encapsulated and grossly pigmented nerve sheath tumor. It is composed of cells with the immunophenotypic and electron microscopic features of Schwann cells which contain melanosomes and are positive for melanoma markers. It usually involves spinal nerve roots but may occur in other locations. It may be associated with PRKAR1A gene mutation and Carney complex. Malignant behavior has been reported in a significant number of patients.	DOID:3205|SCTID:404024000|ICD9:215.8|UMLS:C1306247|NCIT:C6970|ONCOTREE:MSCHW	mondo.json	melanocytic schwannoma|pigmented schwannoma|melanotic schwannoma (morphologic abnormality)|melanotic schwannoma|MSCHW|pigmented neurilemmoma|melanocytic neurilemmoma|melanotic neurinoma	http://purl.obolibrary.org/obo/MONDO_0002558	DOID:3205|http://identifiers.org/snomedct/404024000|NCIT:C6970|UMLS:C1306247	
MONDO:0002559	biolink:Disease	plexiform schwannoma	A schwannoma characterized by a plexiform or multinodular growth pattern. It usually arises from the skin or subcutaneous tissues in the extremities, trunk, and head and neck.	DOID:3206|NCIT:C6969|SCTID:404025004|UMLS:C1370659|ICD9:215.9	mondo.json	plexiform schwannoma (morphologic abnormality)|plexiform neurilemmoma|plexiform neurinoma|plexiform schwannoma	http://purl.obolibrary.org/obo/MONDO_0002559	DOID:3206|http://identifiers.org/snomedct/404025004|UMLS:C1370659|NCIT:C6969	
MONDO:0002552	biolink:Disease	vascular myelopathy		UMLS:C0154685|ICD9:336.1|SCTID:29774004|DOID:320|ICD10CM:G95.1	mondo.json	vascular myelopathies	http://purl.obolibrary.org/obo/MONDO_0002552	DOID:320|http://purl.bioontology.org/ontology/ICD10CM/G95.1|UMLS:C0154685|http://identifiers.org/snomedct/29774004	
MONDO:0002553	biolink:Disease	cerebellopontine angle tumor	A neoplasm that affects the cerebellopontine angle. Representative examples include vestibular schwannoma and meningioma.	SCTID:126947009|DOID:3200|NCIT:C5414	mondo.json	neoplasm of the C-P angle|neoplasm of C-P angle|tumor of cerebellopontine angle|C-P angle tumor|neoplasm of cerebellar Pontine angle|cerebellar Pontine angle tumor|neoplasm of the cerebellar Pontine angle|tumor of the C-P angle|cerebellopontine angle neoplasm (disease)|neoplasm of the cerebellopontine angle|tumor of C-P angle|cerebellopontine angle neoplasm|cerebellar Pontine angle neoplasm|neoplasm of cerebellopontine angle|cerebellopontine angle tumor|tumor of cerebellar Pontine angle|tumor of the cerebellopontine angle|C-P angle neoplasm|tumor of the cerebellar Pontine angle	http://purl.obolibrary.org/obo/MONDO_0002553	http://identifiers.org/snomedct/126947009|DOID:3200|NCIT:C5414	
GO:0051931	biolink:NamedThing	regulation of sensory perception	Any process that modulates the frequency, rate or extent of sensory perception, the series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal.		mondo.json		http://purl.obolibrary.org/obo/GO_0051931		
UBERON:0011171	biolink:AnatomicalEntity	joint connecting upper and lower jaws			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011171		
MONDO:0002554	biolink:Disease	sympathetic neurilemmoma	A benign tumor derived from schwann cells of the peripheral sympathetic nervous system, including the sympathetic plexus.	DOID:3201|UMLS:C1336543|NCIT:C5421	mondo.json	sympathetic schwannoma	http://purl.obolibrary.org/obo/MONDO_0002554	DOID:3201|NCIT:C5421|UMLS:C1336543	
MONDO:0002555	biolink:Disease	trigeminal schwannoma	A schwannoma that involves the trigeminal nerve.	UMLS:C0349582|DOID:3202|ICD9:215.9|NCIT:C4655|SCTID:277185000	mondo.json	fifth cranial nerve neurilemmoma|neurilemmoma of the fifth cranial nerve|neurilemmoma of trigeminal nerve|neurilemmoma of fifth cranial nerve|neurilemmoma of the trigeminal nerve|trigeminal nerve schwannoma|fifth cranial nerve schwannoma|schwannoma of trigeminal nerve|schwannoma of the trigeminal nerve|schwannoma of the fifth cranial nerve|schwannoma of fifth cranial nerve|trigeminal neurilemmoma|trigeminal schwannoma	http://purl.obolibrary.org/obo/MONDO_0002555	DOID:3202|UMLS:C0349582|http://identifiers.org/snomedct/277185000|NCIT:C4655	
GO:0051932	biolink:NamedThing	synaptic transmission, GABAergic	The vesicular release of  gamma-aminobutyric acid (GABA). from a presynapse, across a chemical synapse, the subsequent activation of GABA receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.		mondo.json	GABAergic synaptic transmission|synaptic transmission, gamma-aminobutyric acid-ergic|synaptic transmission, GABA mediated|synaptic transmission, gamma-aminobutyric acid mediated	http://purl.obolibrary.org/obo/GO_0051932		
GO:0051937	biolink:NamedThing	catecholamine transport	The directed movement of catecholamines, a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine.		mondo.json		http://purl.obolibrary.org/obo/GO_0051937		
MONDO:0002550	biolink:Disease	hypoglossal nerve neoplasm	A neoplasm involving a hypoglossal nerve.	NCIT:C5830|ICD9:239.7|UMLS:C1263903|DOID:3198|SCTID:126978008	mondo.json	hypoglossal nerve neoplasm (disease)|neoplasm of hypoglossal nerve|tumor of the hypoglossal nerve|hypoglossal nerve neoplasm|hypoglossal nerve tumor|XIIth cranial nerve tumors|hypoglossal nerve tumors|twelfth cranial nerve neoplasm|neoplasm of the twelfth cranial nerve|neoplasm of twelfth cranial nerve|twelfth cranial nerve tumors|twelfth cranial nerve tumor|neoplasm of the hypoglossal nerve|twelfth cranial nerve neoplasms|tumor of hypoglossal nerve|tumor of the twelfth cranial nerve|hypoglossal nerve neoplasms|tumor of twelfth cranial nerve|XIIth cranial nerve neoplasms	http://purl.obolibrary.org/obo/MONDO_0002550	DOID:3198|UMLS:C1263903|NCIT:C5830|http://identifiers.org/snomedct/126978008	
MONDO:0014539	biolink:Disease	focal segmental glomerulosclerosis 9	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene.	OMIM:616220|UMLS:C4015555|DOID:0111134	mondo.json	FSGS9|glomerulosclerosis, focal segmental, 9|focal segmental glomerulosclerosis 9|focal segmental glomerulosclerosis type 9|focal segmental glomerulosclerosis caused by mutation in CRB2|CRB2 focal segmental glomerulosclerosis	http://purl.obolibrary.org/obo/MONDO_0014539	DOID:0111134|UMLS:C4015555|https://omim.org/entry/616220	
MONDO:0002551	biolink:Disease	c-P angle neurinoma		DOID:3199|UMLS:C1332905|NCIT:C5413	mondo.json	cerebellar Pontine angle neurinoma|cerebellopontine angle neurinoma|cerebellopontine angle schwannoma	http://purl.obolibrary.org/obo/MONDO_0002551	UMLS:C1332905|DOID:3199|NCIT:C5413	
MONDO:0014545	biolink:Disease	progressive myoclonic epilepsy type 8	Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene.	Orphanet:424027|UMLS:C4015619|OMIM:616230|DOID:0111451	mondo.json	epilepsy, progressive myoclonic, 8|progressive myoclonic epilepsy due to CERS1 deficiency|CERS1 progressive myoclonic epilepsy|epilepsy, progressive myoclonic, type 8|EPM8|PME type 8|progressive myoclonus epilepsy type 8|progressive myoclonic epilepsy caused by mutation in CERS1	http://purl.obolibrary.org/obo/MONDO_0014545	https://omim.org/entry/616230|UMLS:C4015619|DOID:0111451|Orphanet:424027	ordo_disease
CL:0001033	biolink:Cell	hippocampal granule cell	Granule cell that is part of the hippocampus.		mondo.json		http://purl.obolibrary.org/obo/CL_0001033		
MONDO:0014544	biolink:Disease	osteogenesis imperfecta type 16	An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11.	UMLS:C4015610|OMIM:616229|Orphanet:216812|DOID:0110345	mondo.json	OI16|osteogenesis imperfecta type XVI|chromosome 11P11.2 deletion syndrome, 91.3-Kb|chromosome 11p11.2 deletion syndrome 91.3-KB|osteogenesis imperfecta, type 16|OI, type 16|osteogenesis imperfecta, type XVI	http://purl.obolibrary.org/obo/MONDO_0014544	UMLS:C4015610|https://omim.org/entry/616229|DOID:0110345	
CL:0001032	biolink:Cell	cortical granule cell	Granule cell that is part of the cerebral cortex.		mondo.json		http://purl.obolibrary.org/obo/CL_0001032		
MONDO:0014543	biolink:Disease	congenital myasthenic syndrome 14	Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene.	DOID:0110669|UMLS:C4015597|OMIM:616228	mondo.json	myasthenic syndrome, congenital, type 14|ALG2 congenital myasthenic syndromes with glycosylation defect|congenital myasthenic syndromes with glycosylation defect caused by mutation in ALG2|congenital myasthenic syndrome type 14|myasthenic syndrome, congenital, 14|CMSTA3|congenital myasthenic syndrome 14, with tubular aggregates|myasthenic syndrome, congenital, with tubular aggregates 3|congenital myasthenic syndrome with tubular aggregates 3|congenital myasthenic syndrome 14|CMS14|myasthenic syndrome, congenital, 14, with tubular aggregates	http://purl.obolibrary.org/obo/MONDO_0014543	https://omim.org/entry/616228|UMLS:C4015597|DOID:0110669	
CL:0001035	biolink:Cell	bone cell	A connective tissue cell found in bone.		mondo.json		http://purl.obolibrary.org/obo/CL_0001035		
MONDO:0014542	biolink:Disease	congenital myasthenic syndrome 15	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene.	DOID:0110658|UMLS:C4015596|OMIM:616227	mondo.json	myasthenic syndrome, congenital, 15|myasthenic syndrome, congenital, 15, without tubular aggregates|congenital myasthenic syndrome type 15|ALG14 congenital myasthenic syndrome|congenital myasthenic syndrome 15 without tubular aggregates|congenital myasthenic syndrome caused by mutation in ALG14|myasthenic syndrome, congenital, type 15|myasthenic syndrome, congenital, without tubular aggregates|CMS15	http://purl.obolibrary.org/obo/MONDO_0014542	UMLS:C4015596|https://omim.org/entry/616227|DOID:0110658	
MONDO:0014549	biolink:Disease	lethal congenital contracture syndrome 6	Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ZBTB42 gene.	UMLS:C4015686|OMIM:616248	mondo.json	lethal congenital contracture syndrome type 6|LCCS6|lethal congenital contracture syndrome 6|lethal congenital contracture syndrome caused by mutation in ZBTB42|ZBTB42 lethal congenital contracture syndrome	http://purl.obolibrary.org/obo/MONDO_0014549	https://omim.org/entry/616248|UMLS:C4015686	
MONDO:0014548	biolink:Disease	long QT syndrome 14	Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene.	Orphanet:101016|OMIM:616247|DOID:0110655|UMLS:C4015671	mondo.json	long QT syndrome caused by mutation in CALM1|CALM1 long QT syndrome|long QT syndrome 14|long QT syndrome type 14|LQT14	http://purl.obolibrary.org/obo/MONDO_0014548	UMLS:C4015671|https://omim.org/entry/616247|DOID:0110655	
MONDO:0014547	biolink:Disease	combined oxidative phosphorylation defect type 24	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the NARS2 gene.	Orphanet:444458|UMLS:C4015643|OMIM:616239|EFO:0009034|DOID:0111485	mondo.json	NARS2 combined oxidative phosphorylation deficiency|COXPD24|combined oxidative phosphorylation deficiency type 24|combined oxidative phosphorylation deficiency caused by mutation in NARS2|combined oxidative phosphorylation deficiency 24	http://purl.obolibrary.org/obo/MONDO_0014547	https://omim.org/entry/616239|UMLS:C4015643|DOID:0111485|Orphanet:444458	ordo_disease
MONDO:0014546	biolink:Disease	myopathy due to calsequestrin and SERCA1 protein overload	Myopathy due to calsequestrin and SERCA1 protein overload is characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.	UMLS:C4015624|SCTID:724095006|Orphanet:88635|UMLS:C4510368|OMIM:616231	mondo.json	myopathy, vacuolar, with CASQ1 aggregates|VMCQA	http://purl.obolibrary.org/obo/MONDO_0014546	UMLS:C4015624|https://omim.org/entry/616231|UMLS:C4510368|http://identifiers.org/snomedct/724095006|Orphanet:88635	ordo_disease
MONDO:0014541	biolink:Disease	motor developmental delay due to 14q32.2 paternally expressed gene defect	A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father.	NCIT:C120409|UMLS:C4015558|DOID:0111713|OMIM:616222|Orphanet:254516	mondo.json	mUPD14 syndrome|uniparental disomy, maternal, chromosome 14|maternal uniparental disomy chromosome 14 syndrome|TEMPLE syndrome	http://purl.obolibrary.org/obo/MONDO_0014541	https://omim.org/entry/616222|UMLS:C4015558|NCIT:C120409|Orphanet:254516|DOID:0111713	ordo_malformation_syndrome
MONDO:0002549	biolink:Disease	schwannoma of twelfth cranial nerve	A schwannoma that involves the hypoglossal nerve.	NCIT:C5434|UMLS:C1335928|DOID:3197	mondo.json	schwannoma of the twelfth cranial nerve|hypoglossal nerve schwannoma|schwannoma of twelfth cranial nerve|schwannoma of the hypoglossal nerve|hypoglossal nerve neurilemmoma|schwannoma of hypoglossal nerve|neurilemmoma of the twelfth cranial nerve|hypoglossal schwannoma|neurilemmoma of twelfth cranial nerve|twelfth cranial nerve neurilemmoma|neurilemmoma of the hypoglossal nerve|neurilemmoma of hypoglossal nerve|hypoglossal neurilemmoma|twelfth cranial nerve schwannoma	http://purl.obolibrary.org/obo/MONDO_0002549	UMLS:C1335928|DOID:3197|NCIT:C5434	
NCBITaxon:552467	biolink:OrganismalEntity	Cryptococcus gattii VGIII		GC_ID:1	mondo.json	Filobasidiella neoformans var. bacillispora|Filobasidiella bacillispora|Cryptococcus bacillisporus|Cryptococcus bacillisporus VGIII	http://purl.obolibrary.org/obo/NCBITaxon_552467		
MONDO:0014540	biolink:Disease	amelogenesis imperfecta type 1H	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene.	DOID:0110064|UMLS:C4015557|OMIM:616221	mondo.json	amelogenesis imperfecta, type IH|amelogenesis imperfecta, type 1H|amelogenesis imperfecta type IH|ITGB6 amelogenesis imperfecta|amelogenesis imperfecta caused by mutation in ITGB6|AI1H	http://purl.obolibrary.org/obo/MONDO_0014540	UMLS:C4015557|https://omim.org/entry/616221|DOID:0110064	
SO:0000578	biolink:SequenceFeature	snoRNA_encoding	A region that can be transcribed into a small nucleolar RNA (snoRNA).		mondo.json	snoRNA encoding	http://purl.obolibrary.org/obo/SO_0000578		
CL:0001031	biolink:Cell	cerebellar granule cell	Granule cell that is part of the cerebellum.	BTO:0004278	mondo.json		http://purl.obolibrary.org/obo/CL_0001031		
CL:0001030	biolink:Cell	CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor			mondo.json		http://purl.obolibrary.org/obo/CL_0001030		
MONDO:0002567	biolink:Disease	tracheal disorder	A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma.	SCTID:47125007|DOID:3225|UMLS:C0040580|NCIT:C35079|MESH:D014133	mondo.json	disease or disorder of trachea|disease of trachea|trachea disease or disorder|trachea disease|tracheal disorder|disorder of trachea	http://purl.obolibrary.org/obo/MONDO_0002567	http://identifiers.org/snomedct/47125007|DOID:3225|UMLS:C0040580|http://identifiers.org/mesh/D014133|NCIT:C35079	
CHEBI:26932	biolink:ChemicalSubstance	tetrapyrrole	A natural pigment containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next.		mondo.json	a tetrapyrrole|tetrapyrroles|tetrapyrrole	http://purl.obolibrary.org/obo/CHEBI_26932		
NCBITaxon:12663	biolink:OrganismalEntity	Feline coronavirus		GC_ID:1	mondo.json	Feline enteric coronavirus FECV|FECV|Feline enteric coronavirus	http://purl.obolibrary.org/obo/NCBITaxon_12663		
MONDO:0002568	biolink:Disease	tracheal stenosis	Narrowing of the lumen of the trachea.	DOID:3227|UMLS:C0040583|ICD9:519.19|MESH:D014135|SCTID:11296007	mondo.json	stenosis of trachea	http://purl.obolibrary.org/obo/MONDO_0002568	http://identifiers.org/snomedct/11296007|DOID:3227|UMLS:C0040583|http://identifiers.org/mesh/D014135	
SO:0000571	biolink:SequenceFeature	miRNA_encoding	A region that can be transcribed into a microRNA (miRNA).		mondo.json	miRNA encoding	http://purl.obolibrary.org/obo/SO_0000571		
HGNC:25557	biolink:NamedThing	PRMT7			mondo.json		http://identifiers.org/hgnc/25557		
MONDO:0002569	biolink:Disease	gastric dilatation	Abnormal distention of the stomach due to accumulation of gastric contents that may reach 10 to 15 liters. Gastric dilatation may be the result of gastric outlet obstruction; ileus; gastroparesis; or denervation.	UMLS:C0038353|MESH:D013271|DOID:3229	mondo.json	stomach dilatation	http://purl.obolibrary.org/obo/MONDO_0002569	http://identifiers.org/mesh/D013271|UMLS:C0038353|DOID:3229	
MONDO:0002563	biolink:Disease	jejunal somatostatinoma	A somatostatin-producing neuroendocrine tumor that arises from the jejunum. It is characterized by the presence of tubulo-glandular structures.	NCIT:C5787|UMLS:C1334297|DOID:3216	mondo.json	Somatosatinoma of the jejunum|Somatosatinoma of jejunum|jejunal somatostatin-producing neuroendocrine tumor|Delta cell tumor of the jejunum|jejunal somatostatin-producing NET|Delta cell tumor of jejunum|jejunal somatostatin producing tumor|jejunal delta cell somatostatin producing tumor	http://purl.obolibrary.org/obo/MONDO_0002563	DOID:3216|NCIT:C5787|UMLS:C1334297	
MONDO:0002564	biolink:Disease	jejunal neoplasm	A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma.	MESH:D007580|NCIT:C8401|UMLS:C0022374|SCTID:126834003|DOID:3218	mondo.json	jejunal tumor|jejunum tumor|jejunum neoplasm (disease)|neoplasm of the jejunum|tumor of jejunum|jejunum neoplasm|tumor of the jejunum|neoplasm of jejunum	http://purl.obolibrary.org/obo/MONDO_0002564	NCIT:C8401|DOID:3218|http://identifiers.org/mesh/D007580|UMLS:C0022374|http://identifiers.org/snomedct/126834003	
MONDO:0002565	biolink:Disease	myelitis	An inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence.	EFO:1001472|ICD9:323.9|DOID:322|MESH:D009187|SCTID:41370002|NCIT:C26832|GARD:0007130|UMLS:C0026975	mondo.json	spinal cord inflammation|inflammation of spinal cord	http://purl.obolibrary.org/obo/MONDO_0002565	DOID:322|UMLS:C0026975|http://identifiers.org/snomedct/41370002|NCIT:C26832|http://identifiers.org/mesh/D009187	gard_rare
NCBITaxon:2697049	biolink:OrganismalEntity	Severe acute respiratory syndrome coronavirus 2		GC_ID:1	mondo.json	COVID-19 virus|Human coronavirus 2019|SARS-CoV-2|SARS-CoV2|SARS-2|SARS2|2019-nCoV|HCoV-19	http://purl.obolibrary.org/obo/NCBITaxon_2697049		
MONDO:0002566	biolink:Disease	obsolete complex regional pain syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002566		
UBERON:0011166	biolink:AnatomicalEntity	patellofemoral joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011166		
MONDO:0002560	biolink:Disease	obsolete junctional epidermolysis bullosa			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002560		
UBERON:0035198	biolink:AnatomicalEntity	superficial lymphatic vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035198		
MONDO:0002561	biolink:Disease	lysosomal storage disease	A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.	UMLS:CN205533|DOID:3211|SCTID:23585005|Orphanet:68366|NCIT:C61250|MESH:D016464|UMLS:C0085078	mondo.json	lysosomal disorder|lysosomal storage disorder|lysosome disease|disorder of lysosomal enzymes|phospholipidosis|disorder of lysosomal enzyme|lysosomal storage metabolism disorder|lysosome disorder|inborn lysosomal enzyme disorder|lysosomal disease	http://purl.obolibrary.org/obo/MONDO_0002561	Orphanet:68366|DOID:3211|NCIT:C61250|UMLS:CN205533|http://identifiers.org/snomedct/23585005|http://identifiers.org/mesh/D016464|UMLS:C0085078	ordo_group_of_disorders|disease_grouping
MONDO:0014529	biolink:Disease	cerebellar-facial-dental syndrome		UMLS:CN221667|Orphanet:444072|EFO:0009030|OMIM:616202|UMLS:C4015495	mondo.json	CFDS|cerebellar-facial-dental syndrome|Cerebellofaciodental syndrome|CEREBELLOFACIODENTAL syndrome	http://purl.obolibrary.org/obo/MONDO_0014529	UMLS:CN221667|UMLS:C4015495|https://omim.org/entry/616202|Orphanet:444072	ordo_malformation_syndrome
UBERON:0011164	biolink:AnatomicalEntity	neurocranium bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011164		
MONDO:0002562	biolink:Disease	demyelinating disease	A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase travelling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others.	DOID:3213|NCIT:C34527|MESH:D003711|UMLS:C0011303	mondo.json	demyelinating disorder	http://purl.obolibrary.org/obo/MONDO_0002562	NCIT:C34527|DOID:3213|UMLS:C0011303|http://identifiers.org/mesh/D003711	
MONDO:0014528	biolink:Disease	chronic atrial and intestinal dysrhythmia	A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO).	GARD:0012281|DOID:0060339|OMIM:616201|Orphanet:435988|SCTID:720507006|UMLS:C4015474	mondo.json	Cohesinopathy affecting heart and gut rhythm|caid syndrome|caid|chronic atrial intestinal dysrhythmia syndrome|chronic atrial dysrhythmia-intestinal motility disorder|chronic atrial and intestinal dysrhythmia syndrome|chronic atrial and intestinal dysrhythmia	http://purl.obolibrary.org/obo/MONDO_0014528	https://omim.org/entry/616201|UMLS:C4015474|DOID:0060339|Orphanet:435988|http://identifiers.org/snomedct/720507006	ordo_disease
MONDO:0014534	biolink:Disease	lissencephaly 6 with microcephaly	Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene.	OMIM:616212	mondo.json	LIS6|Microlissencephaly caused by mutation in KATNB1|microlissencephaly caused by mutation in KATNB1|KATNB1 microlissencephaly|KATNB1 Microlissencephaly|lissencephaly 6, with microcephaly|lissencephaly 6 with microcephaly	http://purl.obolibrary.org/obo/MONDO_0014534	https://omim.org/entry/616212	
MONDO:0014533	biolink:Disease	developmental and epileptic encephalopathy, 28	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene.	DOID:0080452|OMIM:616211|UMLS:C4015519	mondo.json	epileptic encephalopathy, early infantile, 28|DEE28|epileptic encephalopathy, early infantile, type 28|early infantile epileptic encephalopathy caused by mutation in WWOX|WWOX early infantile epileptic encephalopathy|EIEE28|WOREE syndrome|WWOX-related epileptic encephalopathy|developmental and epileptic encephalopathy 28	http://purl.obolibrary.org/obo/MONDO_0014533	DOID:0080452|UMLS:C4015519|https://omim.org/entry/616211	
MONDO:0014532	biolink:Disease	autosomal dominant mitochondrial myopathy with exercise intolerance		OMIM:616209|Orphanet:457050|UMLS:C4015513	mondo.json	myopathy, isolated mitochondrial, autosomal dominant|IMMD	http://purl.obolibrary.org/obo/MONDO_0014532	UMLS:C4015513|https://omim.org/entry/616209|Orphanet:457050	ordo_disease
MONDO:0014531	biolink:Disease	amyotrophic lateral sclerosis type 22	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene.	UMLS:C4015512|DOID:0060355|OMIM:616208	mondo.json	amyotrophic lateral sclerosis 22 with or without frontotemporal dementia|amyotrophic lateral sclerosis type 22|ALS22|amyotrophic lateral sclerosis 22|TUBA4A amyotrophic lateral sclerosis|amyotrophic lateral sclerosis caused by mutation in TUBA4A|ALS 22	http://purl.obolibrary.org/obo/MONDO_0014531	https://omim.org/entry/616208|UMLS:C4015512|DOID:0060355	
MONDO:0014538	biolink:Disease	fibrosis of extraocular muscles, congenital, 5	Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene.	OMIM:616219|UMLS:C4015552	mondo.json	congenital fibrosis of extraocular muscles caused by mutation in COL25A1|COL25A1 congenital fibrosis of extraocular muscles|CFEOM5|fibrosis of extraocular muscles, congenital, type 5|fibrosis of extraocular muscles, congenital, 5	http://purl.obolibrary.org/obo/MONDO_0014538	UMLS:C4015552|https://omim.org/entry/616219	
MONDO:0014537	biolink:Disease	nephronophthisis 19	Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene.	OMIM:616217|UMLS:C4015542|DOID:0111126	mondo.json	NPHP19|nephronophthisis 19|DCDC2 nephronophthisis (disease)|nephronophthisis (disease) caused by mutation in DCDC2|nephronophthisis type 19	http://purl.obolibrary.org/obo/MONDO_0014537	DOID:0111126|https://omim.org/entry/616217|UMLS:C4015542	
MONDO:0014536	biolink:Disease	thrombocytopenia 5	Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene.	UMLS:C4015537|OMIM:616216	mondo.json	ETV6 thrombocytopenia|thrombocytopenia 5|thrombocytopenia caused by mutation in ETV6|thrombocytopenia, autosomal dominant, 5|THC5|thrombocytopenia type 5|thrombocytopenia 5 with increased susceptibility to malignancy	http://purl.obolibrary.org/obo/MONDO_0014536	UMLS:C4015537|https://omim.org/entry/616216	
MONDO:0014535	biolink:Disease	hyperproinsulinemia		MESH:C562776|SCTID:237613005|OMIM:616214|ICD9:250.80|UMLS:C0342283	mondo.json	hyperproinsulinemia	http://purl.obolibrary.org/obo/MONDO_0014535	https://omim.org/entry/616214|UMLS:C0342283|http://identifiers.org/snomedct/237613005|http://identifiers.org/mesh/C562776	
CHR:9606-chr2p13.2	biolink:NamedThing	2p13.2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr2p13.2		
MONDO:0014530	biolink:Disease	autosomal recessive spinocerebellar ataxia 18	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.	Orphanet:363432|DOID:0080042|OMIM:616204|UMLS:C4015505	mondo.json	GRID2 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome|spinocerebellar ataxia, autosomal recessive type 18|autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency|autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRID2|autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRID2|autosomal recessive spinocerebellar ataxia type 18|spinocerebellar ataxia, autosomal recessive 18|autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency|SCAR18|GRID2 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome	http://purl.obolibrary.org/obo/MONDO_0014530	Orphanet:363432|UMLS:C4015505|https://omim.org/entry/616204|DOID:0080042	ordo_clinical_subtype
CL:0013000	biolink:Cell	forebrain radial glial cell			mondo.json		http://purl.obolibrary.org/obo/CL_0013000		
GO:0051952	biolink:NamedThing	regulation of amine transport	Any process that modulates the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0051952		
GO:1903708	biolink:NamedThing	positive regulation of hemopoiesis	Any process that activates or increases the frequency, rate or extent of hemopoiesis.		mondo.json	up-regulation of blood cell biosynthesis|up-regulation of blood cell formation|up regulation of hematopoiesis|positive regulation of haemopoiesis|up-regulation of hemopoiesis|activation of blood cell formation|positive regulation of hematopoiesis|up regulation of blood cell biosynthesis|up regulation of haemopoiesis|activation of hematopoiesis|up regulation of hemopoiesis|activation of blood cell biosynthesis|positive regulation of blood cell biosynthesis|activation of hemopoiesis|up-regulation of haemopoiesis|upregulation of hematopoiesis|activation of haemopoiesis|upregulation of blood cell formation|upregulation of blood cell biosynthesis|upregulation of hemopoiesis|positive regulation of blood cell formation|upregulation of haemopoiesis|up regulation of blood cell formation|up-regulation of hematopoiesis	http://purl.obolibrary.org/obo/GO_1903708		
HGNC:25523	biolink:NamedThing	CCDC88A			mondo.json		http://identifiers.org/hgnc/25523		
GO:1903707	biolink:NamedThing	negative regulation of hemopoiesis	Any process that stops, prevents or reduces the frequency, rate or extent of hemopoiesis.		mondo.json	inhibition of hemopoiesis|downregulation of blood cell biosynthesis|downregulation of hemopoiesis|downregulation of blood cell formation|down regulation of blood cell formation|downregulation of haemopoiesis|inhibition of blood cell formation|negative regulation of hematopoiesis|down-regulation of hematopoiesis|down-regulation of blood cell formation|negative regulation of blood cell formation|down-regulation of blood cell biosynthesis|negative regulation of blood cell biosynthesis|down-regulation of hemopoiesis|down regulation of haemopoiesis|down regulation of hematopoiesis|inhibition of haemopoiesis|down regulation of blood cell biosynthesis|down-regulation of haemopoiesis|inhibition of hematopoiesis|down regulation of hemopoiesis|negative regulation of haemopoiesis|downregulation of hematopoiesis|inhibition of blood cell biosynthesis	http://purl.obolibrary.org/obo/GO_1903707		
HGNC:25522	biolink:NamedThing	WRAP53			mondo.json		http://identifiers.org/hgnc/25522		
GO:1903706	biolink:NamedThing	regulation of hemopoiesis	Any process that modulates the frequency, rate or extent of hemopoiesis.		mondo.json	regulation of blood cell formation|regulation of haemopoiesis|regulation of hematopoiesis|regulation of blood cell biosynthesis	http://purl.obolibrary.org/obo/GO_1903706		
GO:0051955	biolink:NamedThing	regulation of amino acid transport	Any process that modulates the frequency, rate or extent of the directed movement of amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0051955		
GO:0051956	biolink:NamedThing	negative regulation of amino acid transport	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	down-regulation of amino acid transport|negative regulation of amino acid transmembrane transport|downregulation of amino acid transport|down regulation of amino acid transport|inhibition of amino acid transport	http://purl.obolibrary.org/obo/GO_0051956		
GO:0051953	biolink:NamedThing	negative regulation of amine transport	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	down-regulation of amine transport|down regulation of amine transport|downregulation of amine transport|inhibition of amine transport	http://purl.obolibrary.org/obo/GO_0051953		
GO:0051954	biolink:NamedThing	positive regulation of amine transport	Any process that activates, maintains or increases the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	up regulation of amine transport|activation of amine transport|stimulation of amine transport|upregulation of amine transport|up-regulation of amine transport	http://purl.obolibrary.org/obo/GO_0051954		
GO:0051957	biolink:NamedThing	positive regulation of amino acid transport	Any process that activates, maintains or increases the frequency, rate or extent of the directed movement of amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	upregulation of amino acid transport|up regulation of amino acid transport|stimulation of amino acid transport|positive regulation of amino acid transmembrane transport|up-regulation of amino acid transport|activation of amino acid transport	http://purl.obolibrary.org/obo/GO_0051957		
UBERON:0035128	biolink:AnatomicalEntity	manus cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035128		
UBERON:0035127	biolink:AnatomicalEntity	suture of hard palate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035127		
UBERON:0035118	biolink:AnatomicalEntity	material entity in digestive tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035118		
CL:0001012	biolink:Cell	CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor			mondo.json		http://purl.obolibrary.org/obo/CL_0001012		
GO:2000145	biolink:NamedThing	regulation of cell motility	Any process that modulates the frequency, rate or extent of cell motility.		mondo.json	regulation of cell movement|regulation of cell locomotion|regulation of movement of a cell	http://purl.obolibrary.org/obo/GO_2000145		
GO:2000146	biolink:NamedThing	negative regulation of cell motility	Any process that stops, prevents, or reduces the frequency, rate or extent of cell motility.		mondo.json	negative regulation of movement of a cell|negative regulation of cell locomotion|negative regulation of cell movement	http://purl.obolibrary.org/obo/GO_2000146		
GO:2000147	biolink:NamedThing	positive regulation of cell motility	Any process that activates or increases the frequency, rate or extent of cell motility.		mondo.json	positive regulation of cell locomotion|positive regulation of movement of a cell|positive regulation of cell movement	http://purl.obolibrary.org/obo/GO_2000147		
HGNC:25519	biolink:NamedThing	ANO10			mondo.json		http://identifiers.org/hgnc/25519		
GO:0051962	biolink:NamedThing	positive regulation of nervous system development	Any process that activates, maintains or increases the frequency, rate or extent of nervous system development, the origin and formation of nervous tissue.		mondo.json	up regulation of nervous system development|stimulation of nervous system development|up-regulation of nervous system development|activation of nervous system development|upregulation of nervous system development	http://purl.obolibrary.org/obo/GO_0051962		
NCBITaxon:10066	biolink:OrganismalEntity	Muridae		PMID:15371245|GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_10066		
HGNC:25535	biolink:NamedThing	TMEM38B			mondo.json		http://identifiers.org/hgnc/25535		
GO:0051960	biolink:NamedThing	regulation of nervous system development	Any process that modulates the frequency, rate or extent of nervous system development, the origin and formation of nervous tissue.		mondo.json		http://purl.obolibrary.org/obo/GO_0051960		
GO:0051961	biolink:NamedThing	negative regulation of nervous system development	Any process that stops, prevents, or reduces the frequency, rate or extent of nervous system development, the origin and formation of nervous tissue.		mondo.json	downregulation of nervous system development|down regulation of nervous system development|inhibition of nervous system development|down-regulation of nervous system development	http://purl.obolibrary.org/obo/GO_0051961		
GO:0051966	biolink:NamedThing	regulation of synaptic transmission, glutamatergic	Any process that modulates the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate.		mondo.json		http://purl.obolibrary.org/obo/GO_0051966		
GO:0051967	biolink:NamedThing	negative regulation of synaptic transmission, glutamatergic	Any process that stops, prevents, or reduces the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate.		mondo.json	downregulation of synaptic transmission, glutamatergic|down regulation of synaptic transmission, glutamatergic|inhibition of synaptic transmission, glutamatergic|down-regulation of synaptic transmission, glutamatergic	http://purl.obolibrary.org/obo/GO_0051967		
GO:1903715	biolink:NamedThing	regulation of aerobic respiration	Any process that modulates the frequency, rate or extent of aerobic respiration.		mondo.json		http://purl.obolibrary.org/obo/GO_1903715		
HGNC:25538	biolink:NamedThing	DARS2			mondo.json		http://identifiers.org/hgnc/25538		
UBERON:0035131	biolink:AnatomicalEntity	auditory ossicle cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035131		
UBERON:0035130	biolink:AnatomicalEntity	auditory ossicle endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035130		
UBERON:0035132	biolink:AnatomicalEntity	auditory ossicle pre-cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035132		
GO:0051968	biolink:NamedThing	positive regulation of synaptic transmission, glutamatergic	Any process that activates, maintains or increases the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate.		mondo.json	activation of synaptic transmission, glutamatergic|up-regulation of synaptic transmission, glutamatergic|upregulation of synaptic transmission, glutamatergic|up regulation of synaptic transmission, glutamatergic|stimulation of synaptic transmission, glutamatergic	http://purl.obolibrary.org/obo/GO_0051968		
GO:0051969	biolink:NamedThing	regulation of transmission of nerve impulse	Any process that modulates the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation.		mondo.json	regulation of conduction of nerve impulse	http://purl.obolibrary.org/obo/GO_0051969		
HGNC:25532	biolink:NamedThing	MTPAP			mondo.json		http://identifiers.org/hgnc/25532		
GO:0120305	biolink:NamedThing	regulation of pigmentation	Any process that modulates the frequency, rate or extent of the deposition or modulates the distribution of coloring matter in an organism.		mondo.json		http://purl.obolibrary.org/obo/GO_0120305		
CL:0001021	biolink:Cell	CD34-positive, CD38-positive common lymphoid progenitor	A common lymphoid progenitor that is CD10-positive, CD45RA-positive, CD34-positive and CD38-positive.		mondo.json	CD10-positive common lymphocyte progenitor|CD10-positive common lymphoid precursor|CD10-positive common lymphocyte precursor	http://purl.obolibrary.org/obo/CL_0001021		
MONDO:0014599	biolink:Disease	intellectual disability, autosomal dominant 34	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene.	DOID:0070064|OMIM:616351	mondo.json	MRD34|autosomal dominant mental retardation 34|mental retardation, autosomal dominant type 34|COL4A3BP autosomal dominant non-syndromic intellectual disability|intellectual developmental disorder, autosomal dominant 34|intellectual disability, autosomal dominant type 34|autosomal dominant intellectual disability 34|autosomal dominant non-syndromic intellectual disability 34|autosomal dominant non-syndromic intellectual disability caused by mutation in COL4A3BP|mental retardation, autosomal dominant 34|intellectual disability, autosomal dominant 34	http://purl.obolibrary.org/obo/MONDO_0014599	DOID:0070064|https://omim.org/entry/616351	
UBERON:0035129	biolink:AnatomicalEntity	pes cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035129		
MONDO:0014598	biolink:Disease	developmental and epileptic encephalopathy, 31	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DNM1 gene.	DOID:0080437|UMLS:C4225357|OMIM:616346	mondo.json	EIEE31|epileptic encephalopathy, early infantile, 31|developmental and epileptic encephalopathy 31|epileptic encephalopathy, early infantile, type 31|early infantile epileptic encephalopathy caused by mutation in DNM1|DNM1 early infantile epileptic encephalopathy|DEE31	http://purl.obolibrary.org/obo/MONDO_0014598	DOID:0080437|UMLS:C4225357|https://omim.org/entry/616346	
CL:0001024	biolink:Cell	CD34-positive, CD38-negative hematopoietic stem cell	CD133-positive hematopoietic stem cell is a hematopoietic stem cell that is CD34-positive, CD90-positive, and CD133-positive.	CALOHA:TS-0448|FMA:86475	mondo.json	CD133-positive hematopoietic stem cell	http://purl.obolibrary.org/obo/CL_0001024		
MONDO:0014597	biolink:Disease	immunodeficiency 39	Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene.	UMLS:C4225358|OMIM:616345	mondo.json	IMD39|immunodeficiency type 39|primary immunodeficiency disease caused by mutation in IRF7|IRF7 primary immunodeficiency disease|immunodeficiency 39	http://purl.obolibrary.org/obo/MONDO_0014597	https://omim.org/entry/616345|UMLS:C4225358	
CL:0001023	biolink:Cell	Kit-positive, CD34-positive common myeloid progenitor	A common myeloid progenitor that is Kit-positive and CD34-positive, Il7ra-negative, and is SCA1-low and Fcgr2-low and Fcgr3-low.		mondo.json	CD117-positive common myeloid precursor	http://purl.obolibrary.org/obo/CL_0001023		
CL:0001026	biolink:Cell	CD34-positive, CD38-positive common myeloid progenitor	A common myeloid progenitor that is CD34-positive, CD38-positive, IL3ra-low, CD10-negative, CD7-negative, CD45RA-negative, and IL-5Ralpha-negative.		mondo.json	CD71-positive common myeloid precursor	http://purl.obolibrary.org/obo/CL_0001026		
GO:2000155	biolink:NamedThing	positive regulation of cilium-dependent cell motility	Any process that activates or increases the frequency, rate or extent of cilium-dependent cell motility.		mondo.json	positive regulation of ciliary cell motility	http://purl.obolibrary.org/obo/GO_2000155		
CL:0001025	biolink:Cell	Kit-positive, Sca1-positive common lymphoid progenitor	A common lymphoid progenitor that is Kit-low, FLT3-positive, IL7ralpha-positive, and SCA1-low.		mondo.json	CD217-positive common lymphoid precursor|CD217-positive common lymphocyte progenitor|CD217-positive common lymphocyte precursor	http://purl.obolibrary.org/obo/CL_0001025		
CL:0001028	biolink:Cell	CD7-positive lymphoid progenitor cell	CD7-positive lymphoid progenitor cell is a lymphoid progenitor cell that is CD34-positive, CD7-positive and is CD45RA-negative.		mondo.json	CD7-positive lymphoid precursor	http://purl.obolibrary.org/obo/CL_0001028		
HGNC:13556	biolink:NamedThing	IFT122			mondo.json		http://identifiers.org/hgnc/13556		
CL:0001027	biolink:Cell	CD7-negative lymphoid progenitor cell	CD7-negative lymphoid progenitor cell is a lymphoid progenitor cell that is CD34-positive, CD7-negative and CD45RA-negative.		mondo.json	CD7-negative lymphoid precursor	http://purl.obolibrary.org/obo/CL_0001027		
MONDO:0014592	biolink:Disease	microcephaly and chorioretinopathy 3	Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene.	OMIM:616335|DOID:0080107|UMLS:C4225362	mondo.json	microcephaly and chorioretinopathy type 3|TUBGCP4 microcephaly and chorioretinopathy|microcephaly and chorioretinopathy, autosomal recessive, 3|microcephaly and chorioretinopathy caused by mutation in TUBGCP4|microcephaly and chorioretinopathy, autosomal recessive, type 3|MCCRP3	http://purl.obolibrary.org/obo/MONDO_0014592	DOID:0080107|UMLS:C4225362|https://omim.org/entry/616335	
MONDO:0014591	biolink:Disease	autosomal dominant Robinow syndrome 2	Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene.	DOID:0060765|OMIM:616331|UMLS:C4225363	mondo.json	autosomal dominant Robinow syndrome caused by mutation in DVL1|Robinow syndrome, autosomal dominant 2|DRS2|DVL1 autosomal dominant Robinow syndrome|Robinow syndrome, autosomal dominant type 2|autosomal dominant Robinow syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0014591	https://omim.org/entry/616331|UMLS:C4225363|DOID:0060765	
MONDO:0014590	biolink:Disease	congenital myasthenic syndrome 18	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene.	DOID:0110683|OMIM:616330|UMLS:C4225364	mondo.json	CMS18|myasthenic syndrome, congenital, 18, with intellectual disability and ataxia|congenital myasthenic syndrome caused by mutation in SNAP25|SNAP25 congenital myasthenic syndrome|myasthenic syndrome, congenital, type 18|congenital myasthenic syndrome type 18|myasthenic syndrome, congenital, 18	http://purl.obolibrary.org/obo/MONDO_0014590	UMLS:C4225364|https://omim.org/entry/616330|DOID:0110683	
MONDO:0014596	biolink:Disease	lissencephaly 7 with cerebellar hypoplasia		OMIM:616342|UMLS:C4225359	mondo.json	LIS7|lissencephaly 7 with cerebellar hypoplasia	http://purl.obolibrary.org/obo/MONDO_0014596	UMLS:C4225359|https://omim.org/entry/616342	
MONDO:0014595	biolink:Disease	developmental and epileptic encephalopathy, 30	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene.	UMLS:C4225360|OMIM:616341|DOID:0080465	mondo.json	DEE30|early infantile epileptic encephalopathy caused by mutation in SIK1|EIEE30|developmental and epileptic encephalopathy 30|SIK1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 30|epileptic encephalopathy, early infantile, type 30	http://purl.obolibrary.org/obo/MONDO_0014595	DOID:0080465|https://omim.org/entry/616341|UMLS:C4225360	
MONDO:0014594	biolink:Disease	autosomal dominant nonsyndromic hearing loss 67	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene.	OMIM:616340|DOID:0110588|UMLS:C4084712	mondo.json	OSBPL2 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in OSBPL2|DFNA67|deafness, autosomal dominant 67|autosomal dominant deafness 67|autosomal dominant nonsyndromic deafness 67|autosomal dominant nonsyndromic deafness type 67|deafness, autosomal dominant type 67	http://purl.obolibrary.org/obo/MONDO_0014594	https://omim.org/entry/616340|DOID:0110588|UMLS:C4084712	
GO:0036385	biolink:NamedThing	obsolete nucleoid DNA packaging	OBSOLETE. Any process in which DNA and associated proteins are formed into a compact, orderly structure within a nucleoid.		mondo.json		http://purl.obolibrary.org/obo/GO_0036385		
MONDO:0014593	biolink:Disease	developmental and epileptic encephalopathy, 29	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene.	UMLS:C4225361|OMIM:616339|DOID:0080451	mondo.json	EIEE29|developmental and epileptic encephalopathy 29|epileptic encephalopathy, early infantile, 29|epileptic encephalopathy, early infantile, type 29|DEE29|AARS early infantile epileptic encephalopathy|early infantile epileptic encephalopathy caused by mutation in AARS	http://purl.obolibrary.org/obo/MONDO_0014593	DOID:0080451|https://omim.org/entry/616339|UMLS:C4225361	
GO:0051971	biolink:NamedThing	positive regulation of transmission of nerve impulse	Any process that activates, maintains or increases the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation.		mondo.json	up-regulation of transmission of nerve impulse|up regulation of transmission of nerve impulse|activation of transmission of nerve impulse|positive regulation of conduction of nerve impulse|stimulation of transmission of nerve impulse|upregulation of transmission of nerve impulse	http://purl.obolibrary.org/obo/GO_0051971		
GO:1903729	biolink:NamedThing	regulation of plasma membrane organization	Any process that modulates the frequency, rate or extent of plasma membrane organization.		mondo.json	regulation of plasma membrane organisation|regulation of plasma membrane organization and biogenesis	http://purl.obolibrary.org/obo/GO_1903729		
MONDO:0002596	biolink:Disease	obsolete chordoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002596		
HGNC:25507	biolink:NamedThing	VAC14			mondo.json		http://identifiers.org/hgnc/25507		
MONDO:0002597	biolink:Disease	notochordal tumor	A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor.	DOID:3303|UMLS:C1335069|NCIT:C7063	mondo.json	notochordal cancer|tumor of notochord|malignant neoplasm of notochord|notochord neoplasm|notochord cancer|neoplasm of notochord|malignant notochord neoplasm|notochord tumor|cancer of notochord|notochordal neoplasm|notochordal tumor	http://purl.obolibrary.org/obo/MONDO_0002597	UMLS:C1335069|NCIT:C7063|DOID:3303	
GO:1903727	biolink:NamedThing	positive regulation of phospholipid metabolic process	Any process that activates or increases the frequency, rate or extent of phospholipid metabolic process.		mondo.json	up-regulation of phospholipid metabolic process|activation of phospholipid metabolic process|upregulation of phospholipid metabolism|upregulation of phospholipid metabolic process|up-regulation of phospholipid metabolism|up regulation of phospholipid metabolic process|up regulation of phospholipid metabolism|activation of phospholipid metabolism|positive regulation of phospholipid metabolism	http://purl.obolibrary.org/obo/GO_1903727		
GO:1903726	biolink:NamedThing	negative regulation of phospholipid metabolic process	Any process that stops, prevents or reduces the frequency, rate or extent of phospholipid metabolic process.		mondo.json	downregulation of phospholipid metabolic process|down-regulation of phospholipid metabolism|negative regulation of phospholipid metabolism|down regulation of phospholipid metabolic process|inhibition of phospholipid metabolic process|down regulation of phospholipid metabolism|down-regulation of phospholipid metabolic process|inhibition of phospholipid metabolism|downregulation of phospholipid metabolism	http://purl.obolibrary.org/obo/GO_1903726		
MONDO:0002598	biolink:Disease	germinoma	A malignant germ cell tumor arising in the central nervous system. It is characterized by the presence of primitive, large malignant germ cells and lymphocytes.	NCIT:C3753|UMLS:C0206660|HP:0100620|MESH:D018237|ICDO:9064/3|DOID:3304|ONCOTREE:GMN	mondo.json	germinoma (disease)|germinoma	http://purl.obolibrary.org/obo/MONDO_0002598	http://identifiers.org/mesh/D018237|NCIT:C3753|DOID:3304|UMLS:C0206660	
MONDO:0002599	biolink:Disease	teratocarcinoma	A germ cell tumor characterized by the presence of an embryonal carcinoma component and a teratoma component.	UMLS:C0206664|ICDO:9081/3|MESH:D018243|DOID:3305|NCIT:C3756	mondo.json	mixed embryonal carcinoma and teratoma|teratocarcinoma|teratocarcinoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0002599	http://identifiers.org/mesh/D018243|NCIT:C3756|UMLS:C0206664|DOID:3305	
GO:1903725	biolink:NamedThing	regulation of phospholipid metabolic process	Any process that modulates the frequency, rate or extent of phospholipid metabolic process.		mondo.json	regulation of phospholipid metabolism	http://purl.obolibrary.org/obo/GO_1903725		
MONDO:0002592	biolink:Disease	invasive malignant thymoma	A malignant thymoma that extends beyond the capsule and infiltrates the surrounding tissues.	DOID:3283|NCIT:C7904|UMLS:C0278846	mondo.json	malignant thymoma, invasive|thymoma malignant invasive|invasive malignant thymoma|infiltrating thymoma	http://purl.obolibrary.org/obo/MONDO_0002592	UMLS:C0278846|DOID:3283|NCIT:C7904	
MONDO:0002593	biolink:Disease	obsolete thymic carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002593		
MONDO:0002594	biolink:Disease	monkeypox	An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks.	SCTID:359814004|ICD9:136.8|DOID:3292|ICD10CM:B04|GARD:0010722|NCIT:C128421|UMLS:C0276180|MESH:D045908|ICD9:059.01	mondo.json	infections, Monkeypox virus|Monkeypox virus infection	http://purl.obolibrary.org/obo/MONDO_0002594	http://identifiers.org/snomedct/359814004|http://identifiers.org/mesh/D045908|http://purl.bioontology.org/ontology/ICD10CM/B04|NCIT:C128421|UMLS:C0276180|DOID:3292	gard_rare
MONDO:0002595	biolink:Disease	vaccinia	The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine.	UMLS:C0042214|MESH:D014615|ICD9:999.0|SCTID:111852003|DOID:3298	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002595	http://identifiers.org/mesh/D014615|http://identifiers.org/snomedct/111852003|UMLS:C0042214|DOID:3298	
MONDO:0002590	biolink:Disease	combined thymoma		DOID:3281	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002590	DOID:3281	
GO:0120316	biolink:NamedThing	sperm flagellum assembly	The assembly and organization of the sperm flagellum, the microtubule-based axoneme and associated structures that are part of a sperm flagellum (or cilium).		mondo.json		http://purl.obolibrary.org/obo/GO_0120316		
MONDO:0002591	biolink:Disease	obsolete dendritic cell thymoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002591		
MONDO:0014589	biolink:Disease	maturity-onset diabetes of the young type 13	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KCNJ11 gene.	OMIM:616329|UMLS:C4225365|DOID:0111110	mondo.json	MODY13|MODY type 13|KCNJ11 maturity-onset diabetes of the young (disease)|MODY, type 13|maturity-onset diabetes of the young (disease) caused by mutation in KCNJ11|maturity-onset diabetes of the young, type 13	http://purl.obolibrary.org/obo/MONDO_0014589	DOID:0111110|UMLS:C4225365|https://omim.org/entry/616329	
MONDO:0014588	biolink:Disease	congenital myasthenic syndrome 11	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene.	DOID:0110675|MESH:C563831|OMIM:616326	mondo.json	Cms Ie|congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency|CMS11|congenital myasthenic syndrome 1e|CMS1E|congenital myasthenic syndrome type 11|CMS Ie|congenital myasthenic syndrome caused by mutation in RAPSN|RAPSN congenital myasthenic syndrome|myasthenic syndrome, congenital, Ie, formerly|Cms Ie, formerly|myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency|myasthenic syndrome, congenital, Ie	http://purl.obolibrary.org/obo/MONDO_0014588	DOID:0110675|http://identifiers.org/mesh/C563831|https://omim.org/entry/616326	
MONDO:0014587	biolink:Disease	congenital myasthenic syndrome 9	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene.	OMIM:616325|DOID:0110670|UMLS:C4225368	mondo.json	MUSK congenital myasthenic syndrome|CMS9|congenital myasthenic syndrome caused by mutation in MUSK|myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency|congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency|congenital myasthenic syndrome type 9	http://purl.obolibrary.org/obo/MONDO_0014587	DOID:0110670|https://omim.org/entry/616325|UMLS:C4225368	
GO:0036378	biolink:NamedThing	calcitriol biosynthetic process from calciol	Conversion of vitamin D3 from its largely inactive form (calciol, also called cholecalciferol) into a hormonally active form (calcitriol). Conversion requires 25-hydroxylation of calciol in the liver to form calcidiol, and subsequent 1,alpha-hydroxylation of calcidiol in the kidney to form calcitriol.		mondo.json	calcitriol biosynthesis from calciol|1alpha,25-dihydroxycholecalciferol biosynthesis|1alpha,25-dihydroxyvitamin D3 biosynthesis|1alpha,25(OH)2D3 biosynthesis|vitamin D3 activation	http://purl.obolibrary.org/obo/GO_0036378		
MONDO:0014586	biolink:Disease	congenital myasthenic syndrome 4B	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.	UMLS:C4225369|OMIM:616324|DOID:0110677	mondo.json	CMS4B|congenital myasthenic syndrome type 4B|congenital myasthenic syndrome 4B fast-channel|myasthenic syndrome, congenital, 4B, FAST-channel	http://purl.obolibrary.org/obo/MONDO_0014586	DOID:0110677|UMLS:C4225369|https://omim.org/entry/616324	
MONDO:0014581	biolink:Disease	congenital myasthenic syndrome 2A	A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.	GARD:0009895|OMIM:616313|DOID:0110681|UMLS:C4225374	mondo.json	myasthenic syndrome, congenital, postsynaptic slow-channel|CMS2A|myasthenic syndrome, congenital, 2A, slow-channel|myasthenic syndrome, congenital, type IIa|congenital myasthenic syndrome 2A slow-channel|myasthenic syndrome, congenital, slow-channel|congenital myasthenic syndrome type 2A|slow channel congenital myasthenic syndrome|SCCMS|CMS IIa	http://purl.obolibrary.org/obo/MONDO_0014581	https://omim.org/entry/616313|UMLS:C4225374|DOID:0110681	
GO:0061307	biolink:NamedThing	cardiac neural crest cell differentiation involved in heart development	The process in which a relatively unspecialized cell acquires specialized features of a cardiac neural crest cell that will migrate to the heart and contribute to its development. Cardiac neural crest cells are specialized cells that migrate toward the heart from the third, fourth and sixth pharyngeal arches.		mondo.json		http://purl.obolibrary.org/obo/GO_0061307		
MONDO:0014580	biolink:Disease	intellectual disability, autosomal dominant 33	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene.	Orphanet:2514|DOID:0070063|OMIM:616311	mondo.json	intellectual disability, autosomal dominant 33|mental retardation, autosomal dominant type 33|DPP6 autosomal dominant non-syndromic intellectual disability|autosomal dominant mental retardation 33|autosomal dominant intellectual disability 33|mental retardation, autosomal dominant 33|autosomal dominant non-syndromic intellectual disability 33|intellectual disability, autosomal dominant type 33|autosomal dominant non-syndromic intellectual disability caused by mutation in DPP6|MRD33	http://purl.obolibrary.org/obo/MONDO_0014580	DOID:0070063|https://omim.org/entry/616311	
GO:0061308	biolink:NamedThing	cardiac neural crest cell development involved in heart development	The process aimed at the progression of a cardiac neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell that contributes to the development of the heart.		mondo.json		http://purl.obolibrary.org/obo/GO_0061308		
MONDO:0014585	biolink:Disease	congenital myasthenic syndrome 3C	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37.	OMIM:616323|DOID:0110664|UMLS:C4225370	mondo.json	CMS3C|congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency|congenital myasthenic syndrome type 3C|myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency	http://purl.obolibrary.org/obo/MONDO_0014585	https://omim.org/entry/616323|UMLS:C4225370|DOID:0110664	
MONDO:0014584	biolink:Disease	congenital myasthenic syndrome 3B	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.	OMIM:616322|DOID:0110665|UMLS:C4225371	mondo.json	congenital myasthenic syndrome 3B, fast-channel|CMS3B|myasthenic syndrome, congenital, 3B, FAST-channel|congenital myasthenic syndrome type 3B	http://purl.obolibrary.org/obo/MONDO_0014584	UMLS:C4225371|https://omim.org/entry/616322|DOID:0110665	
GO:0051970	biolink:NamedThing	negative regulation of transmission of nerve impulse	Any process that stops, prevents, or reduces the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation.		mondo.json	downregulation of transmission of nerve impulse|inhibition of transmission of nerve impulse|negative regulation of conduction of nerve impulse|down-regulation of transmission of nerve impulse|down regulation of transmission of nerve impulse	http://purl.obolibrary.org/obo/GO_0051970		
MONDO:0014583	biolink:Disease	congenital myasthenic syndrome 3A	A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37.	UMLS:C4225372|DOID:0110666|OMIM:616321	mondo.json	congenital myasthenic syndrome 3A, slow-channel|myasthenic syndrome, congenital, 3A, slow-channel|congenital myasthenic syndrome type 3A|CMS3A	http://purl.obolibrary.org/obo/MONDO_0014583	https://omim.org/entry/616321|UMLS:C4225372|DOID:0110666	
GO:0036374	biolink:NamedThing	glutathione hydrolase activity	Catalysis of the reaction: glutathione + H2O = L-cysteinylglycine + L-glutamate.		mondo.json	glutathionase activity|gamma-glutamyltranspeptidase activity	http://purl.obolibrary.org/obo/GO_0036374		
MONDO:0014582	biolink:Disease	congenital myasthenic syndrome 2C	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.	UMLS:C4225373|OMIM:616314|DOID:0110680	mondo.json	CMS2C|congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency|myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency|congenital myasthenic syndrome type 2C	http://purl.obolibrary.org/obo/MONDO_0014582	UMLS:C4225373|https://omim.org/entry/616314|DOID:0110680	
GO:0048332	biolink:NamedThing	mesoderm morphogenesis	The process in which the anatomical structures of the mesoderm are generated and organized.		mondo.json		http://purl.obolibrary.org/obo/GO_0048332		
GO:0051984	biolink:NamedThing	positive regulation of chromosome segregation	Any process that activates or increases the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets.		mondo.json	upregulation of chromosome segregation|up regulation of chromosome segregation|stimulation of chromosome segregation|up-regulation of chromosome segregation|activation of chromosome segregation	http://purl.obolibrary.org/obo/GO_0051984		
GO:0051985	biolink:NamedThing	negative regulation of chromosome segregation	Any process that stops, prevents, or reduces the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets.		mondo.json	down regulation of chromosome segregation|inhibition of chromosome segregation|down-regulation of chromosome segregation|downregulation of chromosome segregation	http://purl.obolibrary.org/obo/GO_0051985		
NCBITaxon:2701	biolink:OrganismalEntity	Gardnerella		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2701		
GO:0051983	biolink:NamedThing	regulation of chromosome segregation	Any process that modulates the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets.		mondo.json		http://purl.obolibrary.org/obo/GO_0051983		
NCBITaxon:2842407	biolink:OrganismalEntity	Alpharhabdovirinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2842407		
CL:0001008	biolink:Cell	Kit and Sca1-positive hematopoietic stem cell	A hematopoietic stem cell that has plasma membrane part Kit-positive, SCA-1-positive, CD150-positive and CD34-negative.		mondo.json	LSK stem cell|Sca1-positive hematopoietic stem cell	http://purl.obolibrary.org/obo/CL_0001008		
UBERON:0035159	biolink:AnatomicalEntity	entire surface of organism			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035159		
NCBITaxon:2702	biolink:OrganismalEntity	Gardnerella vaginalis		PMID:8782675|PMID:14361525|GC_ID:11	mondo.json	Corynebacterium vaginale|Haemophilus vaginalis|Haemophilus hemolyticus vaginalis	http://purl.obolibrary.org/obo/NCBITaxon_2702		
MONDO:0014578	biolink:Disease	congenital myasthenic syndrome 17	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene.	OMIM:616304|UMLS:C4225377|DOID:0110674	mondo.json	CMS17|congenital myasthenic syndrome type 17|myasthenic syndrome, congenital, type 17|LRP4 congenital myasthenic syndrome|congenital myasthenic syndrome caused by mutation in LRP4|myasthenic syndrome, congenital, 17	http://purl.obolibrary.org/obo/MONDO_0014578	DOID:0110674|https://omim.org/entry/616304|UMLS:C4225377	
MONDO:0014577	biolink:Disease	short-rib thoracic dysplasia 13 with or without polydactyly	An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23.	UMLS:C4225378|OMIM:616300|DOID:0110093	mondo.json	SRTD13|short-rib thoracic dysplasia 13 with or without polydactyly	http://purl.obolibrary.org/obo/MONDO_0014577	UMLS:C4225378|https://omim.org/entry/616300|DOID:0110093	
MONDO:0014576	biolink:Disease	lipoyl transferase 1 deficiency		Orphanet:401862|OMIM:616299|UMLS:C4225379	mondo.json	lipoyltransferase 1 deficiency|LIPT1D	http://purl.obolibrary.org/obo/MONDO_0014576	Orphanet:401862|UMLS:C4225379|https://omim.org/entry/616299	ordo_disease
MONDO:0014575	biolink:Disease	Singleton-Merten syndrome 2	Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene.	OMIM:616298|UMLS:C4225380	mondo.json	singleton-Merten syndrome 2|singleton-Merten dysplasia caused by mutation in DDX58|DDX58 singleton-Merten dysplasia|singleton-Merten syndrome type 2|SGMRT2	http://purl.obolibrary.org/obo/MONDO_0014575	https://omim.org/entry/616298|UMLS:C4225380	
HGNC:13533	biolink:NamedThing	ATP8A2			mondo.json		http://identifiers.org/hgnc/13533		
MONDO:0014579	biolink:Disease	Senior-Loken syndrome 8	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene.	UMLS:C4225376|OMIM:616307	mondo.json	SLSN8|SENIOR-Loken syndrome 8|Senior-Loken syndrome 8|WDR19 Senior-Loken syndrome|Senior-Loken syndrome type 8|Senior-Loken syndrome caused by mutation in WDR19	http://purl.obolibrary.org/obo/MONDO_0014579	https://omim.org/entry/616307|UMLS:C4225376	
MONDO:0014570	biolink:Disease	lethal congenital contracture syndrome 8	Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene.	UMLS:C4225385|OMIM:616287	mondo.json	lethal congenital contracture syndrome type 8|lethal congenital contracture syndrome 8|lethal congenital contracture syndrome caused by mutation in ADCY6|LCCS8|ADCY6 lethal congenital contracture syndrome	http://purl.obolibrary.org/obo/MONDO_0014570	UMLS:C4225385|https://omim.org/entry/616287	
HGNC:13530	biolink:NamedThing	RXYLT1			mondo.json		http://identifiers.org/hgnc/13530		
MONDO:0014574	biolink:Disease	peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome		OMIM:616295|UMLS:C4225381|Orphanet:444138	mondo.json	plack|peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads|plack syndrome|peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome	http://purl.obolibrary.org/obo/MONDO_0014574	Orphanet:444138|https://omim.org/entry/616295|UMLS:C4225381	ordo_disease
MONDO:0014573	biolink:Disease	Cole-Carpenter syndrome 2	Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene.	UMLS:C4225382|OMIM:616294	mondo.json	Cole-Carpenter syndrome caused by mutation in SEC24D|SEC24D Cole-Carpenter syndrome|Cole-Carpenter syndrome type 2|CLCRP2|COLE-CARPENTER syndrome 2|Cole-Carpenter syndrome 2	http://purl.obolibrary.org/obo/MONDO_0014573	https://omim.org/entry/616294|UMLS:C4225382	
MONDO:0014572	biolink:Disease	Lichtenstein-Knorr syndrome		UMLS:C4225383|Orphanet:448251|OMIM:616291|DOID:0080065	mondo.json	SCAR19|LIKNS|Lichtenstein-Knorr syndrome|autosomal recessive spinocerebellar ataxia 19|progressive autosomal recessive ataxia-deafness syndrome|progressive autosomal recessive ataxia-sensorineural hearing loss syndrome|spinocerebellar ataxia, autosomal recessive 19|autosomal recessive spinocerebellar ataxia type 19	http://purl.obolibrary.org/obo/MONDO_0014572	DOID:0080065|Orphanet:448251|https://omim.org/entry/616291|UMLS:C4225383	ordo_disease
MONDO:0014571	biolink:Disease	optic atrophy 9		OMIM:616289|DOID:0111442|UMLS:C4085249	mondo.json	optic atrophy 9|autosomal recessive isolated optic atrophy caused by mutation in ACO2|OPA9|ACO2 autosomal recessive isolated optic atrophy	http://purl.obolibrary.org/obo/MONDO_0014571	UMLS:C4085249|https://omim.org/entry/616289|DOID:0111442	
CHEBI:48219	biolink:ChemicalSubstance	disinfectant	An antimicrobial agent that is applied to non-living objects to destroy harmful microorganisms or to inhibit their activity.		mondo.json	desinfectant|disinfectants|Desinfektionsmittel|disinfecting agent	http://purl.obolibrary.org/obo/CHEBI_48219		
UBERON:0035201	biolink:AnatomicalEntity	gastrocolic ligament			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035201		
CHEBI:48210	biolink:ChemicalSubstance	cyclopentafurofurochromene			mondo.json	cyclopentafurofurochromenes	http://purl.obolibrary.org/obo/CHEBI_48210		
UBERON:0011234	biolink:AnatomicalEntity	fibrous membrane of synovial tendon sheath			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011234		
UBERON:0011233	biolink:AnatomicalEntity	synovial membrane of synovial tendon sheath			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011233		
GO:0120178	biolink:NamedThing	steroid hormone biosynthetic process	The chemical reactions and pathways resulting in the formation of any steroid hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone.		mondo.json		http://purl.obolibrary.org/obo/GO_0120178		
HGNC:8533	biolink:NamedThing	P2RX1			mondo.json		http://identifiers.org/hgnc/8533		
HGNC:25613	biolink:NamedThing	CWF19L1			mondo.json		http://identifiers.org/hgnc/25613		
UBERON:0001899	biolink:AnatomicalEntity	epithalamus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001899		
UBERON:0001898	biolink:AnatomicalEntity	hypothalamus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001898		
NCBITaxon:133894	biolink:OrganismalEntity	Penaeus		GC_ID:1	mondo.json	Farfantepenaeus|Marsupenaeus|Fenneropenaeus|Melicertus|Litopenaeus	http://purl.obolibrary.org/obo/NCBITaxon_133894		
UBERON:0011220	biolink:AnatomicalEntity	mastoid process of temporal bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011220		
NCIT:C53637	biolink:NamedThing	Malignant Spindle Cell			mondo.json		http://purl.obolibrary.org/obo/NCIT_C53637		
UBERON:0035216	biolink:AnatomicalEntity	thoracic part of esophagus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035216		
UBERON:0011222	biolink:AnatomicalEntity	intra-ocular muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011222		
NCBITaxon:73421	biolink:OrganismalEntity	Dicrocoeliidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_73421		
GO:0120189	biolink:NamedThing	positive regulation of bile acid secretion	Any process that activates or increases the frequency, rate or extent of the controlled release of bile acid from a cell or a tissue.		mondo.json		http://purl.obolibrary.org/obo/GO_0120189		
UBERON:0011216	biolink:AnatomicalEntity	organ system subdivision			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011216		
HGNC:8548	biolink:NamedThing	P4HB			mondo.json		http://identifiers.org/hgnc/8548		
HGNC:8547	biolink:NamedThing	P4HA2			mondo.json		http://identifiers.org/hgnc/8547		
UBERON:0011215	biolink:AnatomicalEntity	central nervous system cell part cluster			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011215		
HGNC:8549	biolink:NamedThing	BLOC1S6			mondo.json		http://identifiers.org/hgnc/8549		
GO:0120188	biolink:NamedThing	regulation of bile acid secretion	Any process that modulates the frequency, rate or extent of the controlled release of bile acid from a cell or a tissue.		mondo.json		http://purl.obolibrary.org/obo/GO_0120188		
HGNC:25608	biolink:NamedThing	VPS53			mondo.json		http://identifiers.org/hgnc/25608		
NCBITaxon:131221	biolink:OrganismalEntity	Streptophytina		GC_ID:1	mondo.json	Charophyta/Embryophyta group|charophyte/embryophyte group	http://purl.obolibrary.org/obo/NCBITaxon_131221		
HP:0031047	biolink:PhenotypicFeature	Paraproteinemia	An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells.		mondo.json	Monoclonal hypergammaglobulinemia	http://purl.obolibrary.org/obo/HP_0031047		
UBERON:0011213	biolink:AnatomicalEntity	root of vagus nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011213		
CHEBI:38869	biolink:ChemicalSubstance	general anaesthetic	Substance that produces loss of consciousness.		mondo.json	general anaesthetic|general anaesthetics|Allgemeinanaesthetika|general anesthetics|Allgemeinanaesthetikum	http://purl.obolibrary.org/obo/CHEBI_38869		
CHEBI:38867	biolink:ChemicalSubstance	anaesthetic	Substance which produces loss of feeling or sensation.		mondo.json	Anaesthetikum|anesthetic agent|anesthetics|Anaesthetika|anesthetic drug|anaesthetic|anaesthetics	http://purl.obolibrary.org/obo/CHEBI_38867		
HGNC:13601	biolink:NamedThing	FBXL4			mondo.json		http://identifiers.org/hgnc/13601		
UBERON:0001895	biolink:AnatomicalEntity	metencephalon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001895		
UBERON:0001894	biolink:AnatomicalEntity	diencephalon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001894		
UBERON:0001897	biolink:AnatomicalEntity	dorsal plus ventral thalamus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001897		
UBERON:0001896	biolink:AnatomicalEntity	medulla oblongata			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001896		
UBERON:0001891	biolink:AnatomicalEntity	midbrain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001891		
UBERON:0001890	biolink:AnatomicalEntity	forebrain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001890		
UBERON:0001893	biolink:AnatomicalEntity	telencephalon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001893		
GO:0120190	biolink:NamedThing	negative regulation of bile acid secretion	Any process that stops, prevents or reduces the frequency, rate or extent of the controlled release of bile acid from a cell or a tissue.		mondo.json		http://purl.obolibrary.org/obo/GO_0120190		
UBERON:0001892	biolink:AnatomicalEntity	rhombomere			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001892		
IAO:0100001	biolink:NamedThing	term replaced by	Use on obsolete terms, relating the term to another term that can be used as a substitute		mondo.json		http://purl.obolibrary.org/obo/IAO_0100001		
CHEBI:26895	biolink:ChemicalSubstance	tetracyclines	A subclass of polyketides having an octahydrotetracene-2-carboxamide skeleton, substituted with many hydroxy and other groups.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_26895		
HP:0031058	biolink:PhenotypicFeature	Impairment of activities of daily living	Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure.		mondo.json		http://purl.obolibrary.org/obo/HP_0031058		
UBERON:0011203	biolink:AnatomicalEntity	urachus mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011203		
UBERON:0011202	biolink:AnatomicalEntity	urachus epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011202		
UBERON:0011201	biolink:AnatomicalEntity	muscle layer of small intestine			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011201		
UBERON:0011200	biolink:AnatomicalEntity	sacrococcygeal symphysis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011200		
UBERON:0035237	biolink:AnatomicalEntity	branch of internal carotid artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035237		
CHEBI:38877	biolink:ChemicalSubstance	intravenous anaesthetic			mondo.json	i.v.-Anaesthetikum|i.v.-Anaesthetika|intravenous anesthetics	http://purl.obolibrary.org/obo/CHEBI_38877		
UBERON:0035228	biolink:AnatomicalEntity	tonsillar fossa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035228		
UBERON:0001884	biolink:AnatomicalEntity	phrenic nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001884		
UBERON:0001886	biolink:AnatomicalEntity	choroid plexus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001886		
UBERON:0001885	biolink:AnatomicalEntity	dentate gyrus of hippocampal formation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001885		
HGNC:8565	biolink:NamedThing	PABPN1			mondo.json		http://identifiers.org/hgnc/8565		
MONDO:0002413	biolink:Disease	glycogen storage disease I	Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.	ICD10CM:E74.01|NCIT:C84733|MedDRA:10018464|DOID:2749|MESH:D005953|Orphanet:364|SCTID:7265005	mondo.json	hepatorenal glycogenosis|glycogen storage disease type I|von Gierke disease|glycogen storage disease, type I|glycogen storage disease I|glycogenosis type 1|GSD type I|von Gierke's disease|GSD due to G6P deficiency|glycogen storage disease due to G6P deficiency|G6P deficiency|GSD1|glycogen storage disease type 1|deficiency of glucose-6-phosphatase|glycogen storage disease due to glucose-6-phosphatase deficiency|glycogenosis type I|GSD type 1	http://purl.obolibrary.org/obo/MONDO_0002413	http://purl.bioontology.org/ontology/ICD10CM/E74.01|Orphanet:364|DOID:2749|http://identifiers.org/snomedct/7265005|http://identifiers.org/mesh/D005953|NCIT:C84733	ordo_disease
MONDO:0002414	biolink:Disease	gastric hemangioma	A hemangioma arising from the stomach.	NCIT:C5481|UMLS:C1333770|DOID:275	mondo.json	gastric angioma|gastric hemangioma|stomach hemangioma|hemangioma of stomach|hemangioma of the stomach|angioma of the stomach|angioma of stomach	http://purl.obolibrary.org/obo/MONDO_0002414	UMLS:C1333770|DOID:275|NCIT:C5481	
CHEBI:73216	biolink:ChemicalSubstance	EC 3.6.* (hydrolases acting on acid anhydrides) inhibitor	Any hydrolase inhibitor that interferes with the action of a hydrolase which acts on acid anhydrides (EC 3.6.*.*).		mondo.json	EC 3.6 inhibitor|EC 3.6 inhibitors|EC 3.6.* (hydrolases acting on acid anhydrides) inhibitors|EC 3.6.* inhibitor|acid anhydride hydrolase inhibitor|EC 3.6.*.* inhibitor|EC 3.6.*.* inhibitors|acid anhydride hydrolase inhibitors|inhibitors of hydrolase acting on acid anhydride (EC 3.6.*)|inhibitor of hydrolase acting on acid anhydride (EC 3.6.*)|EC 3.6.* inhibitors	http://purl.obolibrary.org/obo/CHEBI_73216		
MONDO:0002415	biolink:Disease	bone carcinoma	A carcinoma that involves the bone element.	UMLS:C0700110|NCIT:C36082|DOID:2762	mondo.json	carcinoma of bone element|bone element carcinoma	http://purl.obolibrary.org/obo/MONDO_0002415	DOID:2762	
MONDO:0002416	biolink:Disease	ethmoid sinus squamous cell carcinoma	A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.	UMLS:C1333477|NCIT:C6065|DOID:2763|SCTID:707359008	mondo.json	epidermoid carcinoma of the ethmoid sinus|epidermoid carcinoma of ethmoid sinus|ethmoid sinus epidermoid carcinoma|epidermoid carcinoma of ethmoidal sinus|epidermoid carcinoma of the ethmoidal sinus|ethmoidal sinus squamous cell carcinoma|squamous cell carcinoma of the ethmoid sinus|squamous cell carcinoma of ethmoid sinus|ethmoidal sinus epidermoid carcinoma|squamous cell carcinoma of the ethmoidal sinus|squamous cell carcinoma of ethmoidal sinus|ethmoid sinus squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002416	http://identifiers.org/snomedct/707359008|UMLS:C1333477|NCIT:C6065|DOID:2763	
UBERON:0011272	biolink:AnatomicalEntity	embryonic skin basal layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011272		
MONDO:0002410	biolink:Disease	pyeloureteritis cystica		DOID:2743|SCTID:37779008|ICD10CM:N28.85|UMLS:C0156254|ICD9:590.3	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002410	http://identifiers.org/snomedct/37779008|UMLS:C0156254|http://purl.bioontology.org/ontology/ICD10CM/N28.85|DOID:2743	
MONDO:0002411	biolink:Disease	narcissistic personality disorder	A disorder characterized by an enduring pattern of grandiose beliefs and arrogant behavior together with an overwhelming need for admiration and a lack of empathy for (and even exploitation of) others.	DOID:2745|SCTID:80711002|ICD10CM:F60.81|ICD9:301.81|NCIT:C92635	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002411	NCIT:C92635|http://identifiers.org/snomedct/80711002|http://purl.bioontology.org/ontology/ICD10CM/F60.81|DOID:2745	
UBERON:0011270	biolink:AnatomicalEntity	dorsal trunk			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011270		
MONDO:0002412	biolink:Disease	disorder of glycogen metabolism	An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.	MedDRA:10061990|ICD9:271.0|NCIT:C61272|MESH:D006008|UMLS:C0017919|SCTID:29633007|DOID:0050728|Orphanet:79201|ICD10CM:E74.0|DOID:2747	mondo.json	glycogen metabolism disorder|inborn glycogen storage disorder|glycogen storage disease|GSD|glycogenoses|inborn glycogen metabolic process disorder|inborn error of glycogen metabolic process|glycogenosis|glycogen storage disorder|rare inborn error of glycogen metabolic process	http://purl.obolibrary.org/obo/MONDO_0002412	http://purl.bioontology.org/ontology/ICD10CM/E74.0|http://identifiers.org/snomedct/29633007|DOID:0050728|http://identifiers.org/mesh/D006008|NCIT:C61272|Orphanet:79201|DOID:2747|UMLS:C0017919	disease_grouping|ordo_group_of_disorders
UBERON:0011273	biolink:AnatomicalEntity	nail of manual digit 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011273		
UBERON:0011278	biolink:AnatomicalEntity	nail of pedal digit 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011278		
UBERON:0011277	biolink:AnatomicalEntity	nail of manual digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011277		
MONDO:0014402	biolink:Disease	severe neurodegenerative syndrome with lipodystrophy		UMLS:C4014700|OMIM:615924|Orphanet:363400	mondo.json	severe neurodegenerative syndrome due to BSCL2 deficiency|encephalopathy, progressive, with or without lipodystrophy|PELD	http://purl.obolibrary.org/obo/MONDO_0014402	Orphanet:363400|UMLS:C4014700|https://omim.org/entry/615924	ordo_disease
MONDO:0014401	biolink:Disease	tall stature-scoliosis-macrodactyly of the great toes syndrome	Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.	Orphanet:329191|OMIM:615923|UMLS:C4014690|DOID:0070316	mondo.json	ECDM|epiphyseal chondrodysplasia, MIURA type|Miura type epiphyseal chondrodysplasia|tall stature-scoliosis-macrodactyly of the halluces syndrome	http://purl.obolibrary.org/obo/MONDO_0014401	Orphanet:329191|UMLS:C4014690|https://omim.org/entry/615923|DOID:0070316	ordo_disease
MONDO:0014400	biolink:Disease	retinitis pigmentosa 70	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene.	DOID:0110392|ICD10CM:H35.5|UMLS:C4014681|OMIM:615922	mondo.json	RP70|retinitis pigmentosa caused by mutation in PRPF4|retinitis pigmentosa type 70|retinitis pigmentosa 70|PRPF4 retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0014400	UMLS:C4014681|DOID:0110392|https://omim.org/entry/615922	
MONDO:0014406	biolink:Disease	pancreatic agenesis 2	Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene.	OMIM:615935|UMLS:C4014737	mondo.json	pancreatic agenesis 2|PTF1A pancreatic agenesis|pancreatic hypoplasia, congenital 2|PAGEN2|pancreatic agenesis caused by mutation in PTF1A|pancreatic agenesis type 2	http://purl.obolibrary.org/obo/MONDO_0014406	UMLS:C4014737|https://omim.org/entry/615935	
MONDO:0014405	biolink:Disease	STING-associated vasculopathy with onset in infancy	STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.	Orphanet:425120|UMLS:C4040879|OMIM:615934|UMLS:C4014722|GARD:0012357|DOID:0111457|SCTID:711164003|ICD9:279.8	mondo.json	SAVI|STING-associated vasculopathy, infantile-onset	http://purl.obolibrary.org/obo/MONDO_0014405	Orphanet:425120|http://identifiers.org/snomedct/711164003|DOID:0111457|UMLS:C4014722|https://omim.org/entry/615934|UMLS:C4040879	gard_rare|ordo_disease
MONDO:0014404	biolink:Disease	Webb-Dattani syndrome		OMIM:615926|UMLS:C4014708|Orphanet:370006	mondo.json	hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies|WEDAS|WEBB-Dattani syndrome|Webb-Dattani syndrome|hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0014404	UMLS:C4014708|https://omim.org/entry/615926	
MONDO:0014403	biolink:Disease	short stature due to GHSR deficiency	Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.	OMIM:615925|Orphanet:314811|SCTID:766817004	mondo.json	short stature due to growth hormone secretagogue receptor deficiency|growth hormone deficiency, isolated partial|GHDP|ghrelin receptor deficiency	http://purl.obolibrary.org/obo/MONDO_0014403	https://omim.org/entry/615925|Orphanet:314811|http://identifiers.org/snomedct/766817004	ordo_disease
MONDO:0002406	biolink:Disease	dermatitis	An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis.	EFO:1000636|SCTID:43116000|ICD9:692.9|DOID:2723|NCIT:C2983|UMLS:C0011603|MESH:D003872	mondo.json	inflammatory skin disease|inflammation of skin|zone of skin inflammation|inflammation of the skin|inflammation of zone of skin|skin inflammation	http://purl.obolibrary.org/obo/MONDO_0002406	http://identifiers.org/mesh/D003872|NCIT:C2983|UMLS:C0011603|http://identifiers.org/snomedct/43116000|DOID:2723	
MONDO:0002407	biolink:Disease	capillary hemangioma	A common hemangioma characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells.	DOID:2725|ICDO:9131/0|NCIT:C7457|SCTID:56975005|UMLS:C0206733|MESH:D018324	mondo.json	congenital vascular hamartoma|congenital vascular naevus|strawberry nevus of skin|strawberry haemangioma|cellular hemangioma of infancy|infantile hemangioma|juvenile hemangioma|capillary hemangioma|strawberry nevus|capillary angioma|capillary hemangioma (morphologic abnormality)|cellular hemangioma of infancy (strawberry nevus)	http://purl.obolibrary.org/obo/MONDO_0002407	http://identifiers.org/snomedct/56975005|UMLS:C0206733|NCIT:C7457|http://identifiers.org/mesh/D018324|DOID:2725	
HGNC:8574	biolink:NamedThing	PAFAH1B1			mondo.json		http://identifiers.org/hgnc/8574		
MONDO:0002408	biolink:Disease	hereditary hyperbilirubinemia	An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome.	SCTID:14783006|UMLS:C0020433|DOID:2741|NCIT:C84761|UMLS:C0020435|OMIMPS:237450|MESH:D006933	mondo.json	hyperbilirubinemia|hyperbilirubinaemia|bilirubin metabolic disorder|hereditary hyperbilirubinemia	http://purl.obolibrary.org/obo/MONDO_0002408	http://identifiers.org/mesh/D006933|NCIT:C84761|UMLS:C0020435|https://omim.org/phenotypicSeries/PS237450|DOID:2741	
MONDO:0002409	biolink:Disease	auditory system disorder	A disease involving the auditory system.	ICD10CM:H60-H95|ICD9:388.9|SCTID:25906001|UMLS:C0013447|NCIT:C26757|EFO:1001455|DOID:2742|SCTID:362966006	mondo.json	disorder of auditory system|ear and mastoid disease|auditory system disease|auditory disease|disease or disorder of auditory system|auditory system disease or disorder|disease of auditory system	http://purl.obolibrary.org/obo/MONDO_0002409	http://purl.bioontology.org/ontology/ICD10CM/H60-H95|http://identifiers.org/snomedct/362966006|DOID:2742	
MONDO:0002424	biolink:Disease	rectosigmoid carcinoma	A malignant epithelial neoplasm that arises from the rectosigmoid area and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. About 50% of colorectal carcinomas occur in the rectosigmoid area.	NCIT:C7421|DOID:2781|UMLS:C1327709	mondo.json	rectosigmoid junction carcinoma|rectosigmoid carcinoma|rectosigmoid cancer|carcinoma of rectosigmoid junction	http://purl.obolibrary.org/obo/MONDO_0002424	UMLS:C1327709|NCIT:C7421|DOID:2781	
MONDO:0002425	biolink:Disease	rectosigmoid junction cancer	A primary or metastatic malignant neoplasm that affects the rectosigmoid area. Representative examples include carcinoma, lymphoma, and sarcoma.	NCIT:C7420|ICD10CM:C19|SCTID:363414004|DOID:2782|ICD9:154.0|UMLS:C0153443	mondo.json	malignant neoplasm of rectosigmoid|rectosigmoid junction cancer|malignant rectosigmoid neoplasm|cancer of rectosigmoid junction|malignant rectosigmoid junction neoplasm|malignant neoplasm of the rectosigmoid junction|malignant rectosigmoid tumor|malignant tumor of the rectosigmoid junction|malignant tumor of rectosigmoid junction|malignant neoplasm of rectosigmoid junction	http://purl.obolibrary.org/obo/MONDO_0002425	http://purl.bioontology.org/ontology/ICD10CM/C19|NCIT:C7420|DOID:2782|UMLS:C0153443|http://identifiers.org/snomedct/363414004	
CHEBI:26878	biolink:ChemicalSubstance	tertiary alcohol	A tertiary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has three other carbon atoms attached to it.		mondo.json	tertiary alcohol|tertiary alcohols	http://purl.obolibrary.org/obo/CHEBI_26878		
MONDO:0002426	biolink:Disease	lung sarcoma	A malignant mesenchymal neoplasm that arises from the lung. Representative examples include Kaposi sarcoma, leiomyosarcoma, and synovial sarcoma.	DOID:2784|NCIT:C4860|UMLS:C0598790	mondo.json	pulmonary sarcoma|sarcoma of lung|lung sarcoma|sarcoma of the lung	http://purl.obolibrary.org/obo/MONDO_0002426	UMLS:C0598790|DOID:2784|NCIT:C4860	
MONDO:0002427	biolink:Disease	cerebellar disorder	Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia.	UMLS:C0007760|DOID:2786|MESH:D002526|SCTID:223176004	mondo.json	disease of cerebellum|disease or disorder of cerebellum|cerebellum disease|cerebellum disease or disorder|disorder of cerebellum	http://purl.obolibrary.org/obo/MONDO_0002427	http://identifiers.org/mesh/D002526|http://identifiers.org/snomedct/223176004|UMLS:C0007760|DOID:2786	
CHEBI:26873	biolink:ChemicalSubstance	terpenoid	Any isoprenoid that is a natural product or related compound formally derived from isoprene units. Terpenoids may contain oxygen in various functional groups. This class is subdivided according to the number of carbon atoms in the parent terpene. The skeleton of terpenoids may differ from strict additivity of isoprene units by the loss or shift of a fragment, generally a methyl group.		mondo.json	terpenoides|Terpenoid|terpenoids|terpenoide	http://purl.obolibrary.org/obo/CHEBI_26873		
MONDO:0002420	biolink:Disease	tic disorder	Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994)	SCTID:568005|MESH:D013981|ICD9:307.20|ICD9:307.2|DOID:2769	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002420	http://identifiers.org/mesh/D013981|http://identifiers.org/snomedct/568005|DOID:2769	
MONDO:0002421	biolink:Disease	obsolete chorioangioma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002421		
MONDO:0002422	biolink:Disease	adamantinoma	A low grade malignant neoplasm arising from the long bones. The tibia is the most frequently affected bone site. Patients present with swelling which may or may not be associated with pain. Morphologically, it is characterized by a biphasic pattern consisting of an epithelial and an osteofibrous component. The vast majority of cases recur if they are not treated with radical surgery. In a minority of cases the tumor may metastasize to other anatomic sites including lymph nodes, lungs, liver, brain, and skeleton.	Orphanet:55881|UMLS:C0334556|DOID:2776|ONCOTREE:ADMA|DOID:2775|ICD9:170.9|MESH:D050398|UMLS:C1367554|NCIT:C7644|MESH:C562741|ICD10CM:C40.2|ICDO:9261/3|SCTID:307609003|OMIM:102660	mondo.json	adamantinoma|adamantinoma of long bones|long bone adamantinoma|adamantinoma of long bone|adamantinoma, malignant|adamantinoma of long bones (morphologic abnormality)|Extragnathic adamantinoma	http://purl.obolibrary.org/obo/MONDO_0002422	http://identifiers.org/snomedct/307609003|Orphanet:55881|NCIT:C7644|DOID:2775|DOID:2776|https://omim.org/entry/102660|http://identifiers.org/mesh/D050398|http://identifiers.org/mesh/C562741|UMLS:C0334556	ordo_disease
MONDO:0002423	biolink:Disease	rectosigmoid junction neoplasm	A benign or malignant neoplasm that affects the rectosigmoid region. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectosigmoid adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.	SCTID:126848003|DOID:2780|UMLS:C0345873|NCIT:C4877	mondo.json	rectosigmoid neoplasm|rectosigmoid junction tumor|rectosigmoid tumor|neoplasm of rectosigmoid junction|tumor of the rectosigmoid junction|rectosigmoid junction neoplasm (disease)|neoplasm of the rectosigmoid junction|tumor of rectosigmoid junction	http://purl.obolibrary.org/obo/MONDO_0002423	UMLS:C0345873|DOID:2780|http://identifiers.org/snomedct/126848003|NCIT:C4877	
UBERON:0011265	biolink:AnatomicalEntity	carpometacarpal joint of digit 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011265		
NCBITaxon:299071	biolink:OrganismalEntity	Ajellomycetaceae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_299071		
HGNC:8582	biolink:NamedThing	PAH			mondo.json		http://identifiers.org/hgnc/8582		
HGNC:8583	biolink:NamedThing	SERPINE1			mondo.json		http://identifiers.org/hgnc/8583		
MONDO:0002417	biolink:Disease	obsolete ethmoid sinus adenoid cystic carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002417		
MONDO:0002418	biolink:Disease	ethmoid sinus adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the epithelial cell	DOID:2766|UMLS:C1333472|NCIT:C6237	mondo.json	adenocarcinoma of the ethmoid sinus|adenocarcinoma of ethmoid sinus	http://purl.obolibrary.org/obo/MONDO_0002418	UMLS:C1333472|NCIT:C6237|DOID:2766	
MONDO:0002419	biolink:Disease	transient tic disorder	A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause.	SCTID:56573006|DOID:2768|ICD10CM:F95.0|NCIT:C116767|ICD9:307.21	mondo.json	benign Tic disorder of childhood	http://purl.obolibrary.org/obo/MONDO_0002419	http://identifiers.org/snomedct/56573006|http://purl.bioontology.org/ontology/ICD10CM/F95.0|NCIT:C116767|DOID:2768	
UBERON:0011250	biolink:AnatomicalEntity	autopod bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011250		
UBERON:0011252	biolink:AnatomicalEntity	scent gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011252		
UBERON:0011249	biolink:AnatomicalEntity	appendicular skeletal system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011249		
HGNC:8592	biolink:NamedThing	PAK3			mondo.json		http://identifiers.org/hgnc/8592		
MONDO:0002402	biolink:Disease	malignant giant cell tumor	A malignant neoplasm characterized by then presence of atypical giant cells.	NCIT:C4090|UMLS:C0334229|ICDO:8003/3|DOID:2705	mondo.json	malignant giant cell neoplasm|giant cell tumor, malignant|malignant giant cell tumor|malignant tumor, giant cell type (morphologic abnormality)|malignant tumor, giant cell type	http://purl.obolibrary.org/obo/MONDO_0002402	DOID:2705|NCIT:C4090|UMLS:C0334229	
MONDO:0002403	biolink:Disease	synovium cancer	A cancer that involves the layer of synovial tissue.	NCIT:C6531|DOID:2706|UMLS:C1334624	mondo.json	cancer of synovial membrane of synovial joint|malignant tumor of the synovium|malignant synovial tumor|malignant neoplasm of layer of synovial tissue|malignant neoplasm of synovium|layer of synovial tissue cancer|malignant neoplasm of synovial membrane of synovial joint|malignant neoplasm of the synovium|malignant synovial neoplasm|malignant tumor of synovium|malignant synovial membrane of synovial joint neoplasm|synovial membrane of synovial joint cancer|malignant layer of synovial tissue neoplasm|cancer of layer of synovial tissue	http://purl.obolibrary.org/obo/MONDO_0002403	UMLS:C1334624|NCIT:C6531|DOID:2706	
MONDO:0002404	biolink:Disease	liver hemangioma	A hemangioma arising from the liver.	SCTID:93469006|DOID:271|UMLS:C0238246|NCIT:C3869	mondo.json	hepatic angioma|liver hemangioma|liver angioma|hemangioma of the liver|angioma of the liver|hepatic hemangioma|angioma of liver|hemangioma of liver	http://purl.obolibrary.org/obo/MONDO_0002404	UMLS:C0238246|NCIT:C3869|DOID:271|http://identifiers.org/snomedct/93469006	
MONDO:0002405	biolink:Disease	hepatic vascular disorder	A non-neoplastic or neoplastic vascular disorder that affects the liver. Representative examples include veno-occlusive disease, hemangioma, lymphangioma, and angiosarcoma.	SCTID:235878005|ICD9:573.8|DOID:272|UMLS:C0400923|NCIT:C35442	mondo.json	hepatic vascular disorder|liver vascular disorder|vascular disorder of liver	http://purl.obolibrary.org/obo/MONDO_0002405	UMLS:C0400923|NCIT:C35442|DOID:272|http://identifiers.org/snomedct/235878005	
MONDO:0002400	biolink:Disease	synovitis	Inflammation of a synovial membrane.	DOID:2703|HP:0100769|SCTID:416209007|EFO:0008997|MESH:D013585|NCIT:C50766|GARD:0007722	mondo.json	inflammation of synovial membrane of synovial joint|synovitis|synovitis (disease)|Synovitides|synovial membrane of synovial joint inflammation	http://purl.obolibrary.org/obo/MONDO_0002400	http://identifiers.org/mesh/D013585|NCIT:C50766|http://identifiers.org/snomedct/416209007|DOID:2703	
MONDO:0002401	biolink:Disease	malignant tenosynovial giant cell tumor	An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well.	UMLS:C1266168|NCIT:C6535|ICDO:9252/3|DOID:2704	mondo.json	malignant tendon sheath giant cell tumor|malignant giant cell neoplasm of tendon sheath|tenosynovial giant cell tumor, malignant|malignant giant cell tumor of the tendon sheath|malignant giant cell tumor of tendon sheath|malignant tendon sheath giant cell neoplasm|giant cell tumour of tendon sheath, malignant|malignant giant cell neoplasm of the tendon sheath|malignant tenosynovial giant cell tumor	http://purl.obolibrary.org/obo/MONDO_0002401	UMLS:C1266168|NCIT:C6535|DOID:2704	
UBERON:0011241	biolink:AnatomicalEntity	ethmoid region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011241		
NCBITaxon:2842242	biolink:OrganismalEntity	Ribozyviria		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2842242		
UBERON:0001826	biolink:AnatomicalEntity	nasal cavity mucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001826		
UBERON:0001825	biolink:AnatomicalEntity	paranasal sinus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001825		
UBERON:0001828	biolink:AnatomicalEntity	gingiva			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001828		
UBERON:0001827	biolink:AnatomicalEntity	secretion of lacrimal gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001827		
UBERON:0001821	biolink:AnatomicalEntity	sebaceous gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001821		
UBERON:0001824	biolink:AnatomicalEntity	mucosa of larynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001824		
UBERON:0001823	biolink:AnatomicalEntity	nasal cartilage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001823		
UBERON:0001829	biolink:AnatomicalEntity	major salivary gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001829		
UBERON:0001831	biolink:AnatomicalEntity	parotid gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001831		
UBERON:0001830	biolink:AnatomicalEntity	minor salivary gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001830		
UBERON:0001815	biolink:AnatomicalEntity	lumbosacral nerve plexus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001815		
GO:0097485	biolink:NamedThing	neuron projection guidance	The process in which the migration of a neuron projection is directed to a specific target site in response to a combination of attractive and repulsive cues.		mondo.json	neuronal cell projection guidance|neuron protrusion guidance|neurite guidance|neuron process guidance	http://purl.obolibrary.org/obo/GO_0097485		
UBERON:0001814	biolink:AnatomicalEntity	brachial nerve plexus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001814		
UBERON:0001817	biolink:AnatomicalEntity	lacrimal gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001817		
UBERON:0001816	biolink:AnatomicalEntity	autonomic nerve plexus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001816		
UBERON:0001811	biolink:AnatomicalEntity	conjunctiva			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001811		
UBERON:0001810	biolink:AnatomicalEntity	nerve plexus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001810		
UBERON:0001813	biolink:AnatomicalEntity	spinal nerve plexus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001813		
UBERON:0001818	biolink:AnatomicalEntity	tarsal gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001818		
UBERON:0001820	biolink:AnatomicalEntity	sweat gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001820		
UBERON:0001804	biolink:AnatomicalEntity	capsule of lens			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001804		
UBERON:0001803	biolink:AnatomicalEntity	epithelium of lens			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001803		
UBERON:0001806	biolink:AnatomicalEntity	sympathetic ganglion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001806		
UBERON:0001805	biolink:AnatomicalEntity	autonomic ganglion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001805		
UBERON:0001800	biolink:AnatomicalEntity	sensory ganglion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001800		
UBERON:0001802	biolink:AnatomicalEntity	posterior segment of eyeball			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001802		
UBERON:0001801	biolink:AnatomicalEntity	anterior segment of eyeball			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001801		
UBERON:0001808	biolink:AnatomicalEntity	parasympathetic ganglion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001808		
CHEBI:48278	biolink:ChemicalSubstance	serotonergic drug			mondo.json	serotonergic drugs|serotonergic agents|serotonin drugs	http://purl.obolibrary.org/obo/CHEBI_48278		
CHEBI:131530	biolink:ChemicalSubstance	pyridoxal(1+)	A pyridinium ion obtained by protonation of the ring nitrogen of pyridoxal.		mondo.json	pyridoxal cation|4-formyl-3-hydroxy-5-(hydroxymethyl)-2-methylpyridin-1-ium	http://purl.obolibrary.org/obo/CHEBI_131530		
GO:0097458	biolink:NamedThing	obsolete neuron part	OBSOLETE. Any constituent part of a neuron, the basic cellular unit of nervous tissue. A typical neuron consists of a cell body (often called the soma), an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system.		mondo.json		http://purl.obolibrary.org/obo/GO_0097458		
UBERON:0001869	biolink:AnatomicalEntity	cerebral hemisphere			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001869		
UBERON:0001866	biolink:AnatomicalEntity	sebum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001866		
UBERON:0001868	biolink:AnatomicalEntity	skin of chest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001868		
UBERON:0001867	biolink:AnatomicalEntity	cartilage of external ear			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001867		
GO:0012505	biolink:NamedThing	endomembrane system	A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles.		mondo.json		http://purl.obolibrary.org/obo/GO_0012505		
GO:0012506	biolink:NamedThing	vesicle membrane	The lipid bilayer surrounding any membrane-bounded vesicle in the cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0012506		
GO:0012501	biolink:NamedThing	programmed cell death	A process which begins when a cell receives an internal or external signal and activates a series of biochemical events (signaling pathway). The process ends with the death of the cell.		mondo.json	PCD|nonapoptotic programmed cell death|non-apoptotic programmed cell death|caspase-independent cell death|caspase-independent apoptosis|RCD|regulated cell death	http://purl.obolibrary.org/obo/GO_0012501		
UBERON:0001872	biolink:AnatomicalEntity	parietal lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001872		
UBERON:0001871	biolink:AnatomicalEntity	temporal lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001871		
UBERON:0001870	biolink:AnatomicalEntity	frontal cortex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001870		
HGNC:8507	biolink:NamedThing	OSMR			mondo.json		http://identifiers.org/hgnc/8507		
UBERON:0001862	biolink:AnatomicalEntity	vestibular labyrinth			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001862		
CHEBI:36277	biolink:ChemicalSubstance	bile acid salt	A salt of a bile acid.		mondo.json	bile acid salts	http://purl.obolibrary.org/obo/CHEBI_36277		
UBERON:0001860	biolink:AnatomicalEntity	endolymphatic duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001860		
UBERON:0001848	biolink:AnatomicalEntity	auricular cartilage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001848		
UBERON:0001849	biolink:AnatomicalEntity	membranous labyrinth			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001849		
UBERON:0001844	biolink:AnatomicalEntity	cochlea			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001844		
UBERON:0001846	biolink:AnatomicalEntity	internal ear			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001846		
CHEBI:24261	biolink:ChemicalSubstance	glucocorticoid	Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood.		mondo.json	glucocorticoids	http://purl.obolibrary.org/obo/CHEBI_24261		
HGNC:8512	biolink:NamedThing	OTC			mondo.json		http://identifiers.org/hgnc/8512		
HGNC:8515	biolink:NamedThing	OTOF			mondo.json		http://identifiers.org/hgnc/8515		
HGNC:8516	biolink:NamedThing	OTOG			mondo.json		http://identifiers.org/hgnc/8516		
UBERON:0001851	biolink:AnatomicalEntity	cortex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001851		
UBERON:0001850	biolink:AnatomicalEntity	lacrimal drainage system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001850		
UBERON:0001837	biolink:AnatomicalEntity	duct of salivary gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001837		
UBERON:0001836	biolink:AnatomicalEntity	saliva			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001836		
UBERON:0001839	biolink:AnatomicalEntity	bony labyrinth			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001839		
UBERON:0001838	biolink:AnatomicalEntity	sublingual duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001838		
UBERON:0001833	biolink:AnatomicalEntity	lip			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001833		
UBERON:0001832	biolink:AnatomicalEntity	sublingual gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001832		
UBERON:0001835	biolink:AnatomicalEntity	lower lip			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001835		
UBERON:0001834	biolink:AnatomicalEntity	upper lip			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001834		
HGNC:8527	biolink:NamedThing	OXCT1			mondo.json		http://identifiers.org/hgnc/8527		
HP:0008669	biolink:PhenotypicFeature	Abnormal spermatogenesis	Incomplete maturation or aberrant formation of the male gametes.	UMLS:C0520933|SNOMEDCT_US:4529005|UMLS:C4020789	mondo.json	Impaired spermatogenesis|Abnormal sperm development	http://purl.obolibrary.org/obo/HP_0008669		
UBERON:0001840	biolink:AnatomicalEntity	semicircular canal			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001840		
HGNC:8522	biolink:NamedThing	OTX2			mondo.json		http://identifiers.org/hgnc/8522		
HP:0006000	biolink:PhenotypicFeature	Ureteral obstruction	Obstruction of the flow of urine through the ureter.	Fyler:4492|UMLS:C0041956|MSH:D014517|SNOMEDCT_US:20018005	mondo.json		http://purl.obolibrary.org/obo/HP_0006000		
GO:0048469	biolink:NamedThing	cell maturation	A developmental process, independent of morphogenetic (shape) change, that is required for a cell to attain its fully functional state.		mondo.json	functional differentiation	http://purl.obolibrary.org/obo/GO_0048469		
GO:0048468	biolink:NamedThing	cell development	The process whose specific outcome is the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate.		mondo.json	terminal differentiation	http://purl.obolibrary.org/obo/GO_0048468		
GO:0036477	biolink:NamedThing	somatodendritic compartment	The region of a neuron that includes the cell body (cell soma) and dendrite(s), but excludes the axon.		mondo.json		http://purl.obolibrary.org/obo/GO_0036477		
GO:0061448	biolink:NamedThing	connective tissue development	The progression of a connective tissue over time, from its formation to the mature structure.		mondo.json		http://purl.obolibrary.org/obo/GO_0061448		
GO:0048477	biolink:NamedThing	oogenesis	The complete process of formation and maturation of an ovum or female gamete from a primordial female germ cell. Examples of this process are found in Mus musculus and Drosophila melanogaster.		mondo.json	ovum development	http://purl.obolibrary.org/obo/GO_0048477		
OBO:mondo#has_onset_during_or_after	biolink:NamedThing	has_onset_during_or_after			mondo.json		http://purl.obolibrary.org/obo/mondo#has_onset_during_or_after		
GO:1903649	biolink:NamedThing	regulation of cytoplasmic transport	Any process that modulates the frequency, rate or extent of cytoplasmic transport.		mondo.json	regulation of cytoplasmic streaming	http://purl.obolibrary.org/obo/GO_1903649		
HGNC:23089	biolink:NamedThing	SLC13A5			mondo.json		http://identifiers.org/hgnc/23089		
HGNC:23088	biolink:NamedThing	SLC10A7			mondo.json		http://identifiers.org/hgnc/23088		
GO:1903650	biolink:NamedThing	negative regulation of cytoplasmic transport	Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic transport.		mondo.json	downregulation of cytoplasmic transport|inhibition of cytoplasmic transport|downregulation of cytoplasmic streaming|inhibition of cytoplasmic streaming|down-regulation of cytoplasmic transport|negative regulation of cytoplasmic streaming|down-regulation of cytoplasmic streaming|down regulation of cytoplasmic transport|down regulation of cytoplasmic streaming	http://purl.obolibrary.org/obo/GO_1903650		
CHR:9606-chr10q22.3-q23.3	biolink:NamedThing	10q22.3-q23.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr10q22.3-q23.3		
HGNC:23096	biolink:NamedThing	SLC29A3			mondo.json		http://identifiers.org/hgnc/23096		
HGNC:23094	biolink:NamedThing	SLC16A12			mondo.json		http://identifiers.org/hgnc/23094		
GO:1903651	biolink:NamedThing	positive regulation of cytoplasmic transport	Any process that activates or increases the frequency, rate or extent of cytoplasmic transport.		mondo.json	up-regulation of cytoplasmic transport|up-regulation of cytoplasmic streaming|up regulation of cytoplasmic transport|up regulation of cytoplasmic streaming|activation of cytoplasmic transport|positive regulation of cytoplasmic streaming|upregulation of cytoplasmic transport|upregulation of cytoplasmic streaming|activation of cytoplasmic streaming	http://purl.obolibrary.org/obo/GO_1903651		
MONDO:0014499	biolink:Disease	intellectual disability, autosomal recessive 46	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene.	OMIM:616116|UMLS:C4015283	mondo.json	NDST1 autosomal recessive non-syndromic intellectual disability|autosomal recessive non-syndromic intellectual disability caused by mutation in NDST1|intellectual disability, autosomal recessive type 46|mental retardation, autosomal recessive type 46|intellectual disability, autosomal recessive 46|mental retardation, autosomal recessive 46|MRT46	http://purl.obolibrary.org/obo/MONDO_0014499	UMLS:C4015283|https://omim.org/entry/616116	
MONDO:0014498	biolink:Disease	familial cold autoinflammatory syndrome 4	Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene.	Orphanet:576349|OMIM:616115|DOID:0090065|UMLS:C4015276	mondo.json	familial cold autoinflammatory syndrome type 4|NLRC4 familial cold autoinflammatory syndrome|familial cold autoinflammatory syndrome 4|FCAS4|NLRC4-related familial cold autoinflammatory syndrome|familial cold autoinflammatory syndrome caused by mutation in NLRC4	http://purl.obolibrary.org/obo/MONDO_0014498	UMLS:C4015276|https://omim.org/entry/616115|DOID:0090065|Orphanet:576349	ordo_disease
GO:0061458	biolink:NamedThing	reproductive system development	The progression of the reproductive system over time from its formation to the mature structure. The reproductive system consists of the organs that function in reproduction.		mondo.json		http://purl.obolibrary.org/obo/GO_0061458		
MONDO:0014493	biolink:Disease	autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V.	GARD:0012316|UMLS:C4015214|NCIT:C126341|Orphanet:436159|OMIM:616100	mondo.json	ALPS type V|ALPS type 5|ALPS due to CTLA4 haploinsuffiency|chai|CTLA4 haploinsufficiency|autoimmune lymphoproliferative syndrome, type V|autoimmune lymphoproliferative syndrome, type 5|autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency|CTLA4 haploinsufficiency with autoimmune infiltration|autoimmune lymphoproliferative syndrome type V|autoimmune lymphoproliferative syndrome type 5|ALPS5|immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation|CTLA-4 haploinsufficiency with autoimmune infiltration disease	http://purl.obolibrary.org/obo/MONDO_0014493	Orphanet:436159|UMLS:C4015214|https://omim.org/entry/616100|NCIT:C126341	gard_rare|ordo_disease
MONDO:0014492	biolink:Disease	woolly hair-palmoplantar keratoderma syndrome	Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.	Orphanet:420686|UMLS:C4015202|SCTID:764108000|OMIM:616099	mondo.json	palmoplantar keratoderma and woolly hair|KWWH type IV|woolly hair-palmoplantar hyperkeratosis syndrome|PPKWH|keratoderma with woolly hair type IV	http://purl.obolibrary.org/obo/MONDO_0014492	UMLS:C4015202|https://omim.org/entry/616099|http://identifiers.org/snomedct/764108000|Orphanet:420686	ordo_disease
MONDO:0014491	biolink:Disease	immunodeficiency 37	Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene.	UMLS:C4015195|OMIM:616098	mondo.json	BCL10 primary immunodeficiency disease|IMD37|primary immunodeficiency disease caused by mutation in BCL10|immunodeficiency 37|immunodeficiency type 37	http://purl.obolibrary.org/obo/MONDO_0014491	UMLS:C4015195|https://omim.org/entry/616098	
MONDO:0014490	biolink:Disease	ketoacidosis due to monocarboxylate transporter-1 deficiency		Orphanet:438075|UMLS:C4015186|OMIM:616095	mondo.json	monocarboxylate transporter 1 deficiency|MCT1D	http://purl.obolibrary.org/obo/MONDO_0014490	UMLS:C4015186|https://omim.org/entry/616095|Orphanet:438075	ordo_disease
MONDO:0014497	biolink:Disease	polyendocrine-polyneuropathy syndrome		Orphanet:453533|OMIM:616113|UMLS:C4015261	mondo.json	PEPNS|polyendocrine-polyneuropathy syndrome	http://purl.obolibrary.org/obo/MONDO_0014497	UMLS:C4015261|https://omim.org/entry/616113|Orphanet:453533	ordo_disease
MONDO:0014496	biolink:Disease	mitochondrial complex III deficiency nuclear type 9	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene.	OMIM:616111|UMLS:C4015253|DOID:0080118	mondo.json	mitochondrial complex III deficiency caused by mutation in UQCC3|MC3DN9|mitochondrial complex III deficiency, nuclear type 9|mitochondrial Complex 3 deficiency, nuclear type 9|UQCC3 mitochondrial complex III deficiency	http://purl.obolibrary.org/obo/MONDO_0014496	DOID:0080118|UMLS:C4015253|https://omim.org/entry/616111	
MONDO:0014495	biolink:Disease	retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome		OMIM:616108|UMLS:C4015242|Orphanet:436245	mondo.json	RDJCSS|retinal dystrophy-juvenile cataract-short stature syndrome|retinal dystrophy, juvenile cataracts, and short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0014495	Orphanet:436245|UMLS:C4015242|https://omim.org/entry/616108	ordo_disease
MONDO:0014494	biolink:Disease	psoriasis 15, pustular, susceptibility to	Any generalized pustular psoriasis in which the cause of the disease is a mutation in the AP1S3 gene.	DOID:0111281|OMIM:616106	mondo.json	susceptibility to pustular psoriasis 15|AP1S3 generalized pustular psoriasis|generalized pustular psoriasis caused by mutation in AP1S3|psoriasis 15, pustular, susceptibility to|PSORS15	http://purl.obolibrary.org/obo/MONDO_0014494	https://omim.org/entry/616106|DOID:0111281	predisposition
UBERON:0001902	biolink:AnatomicalEntity	epithelium of small intestine			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001902		
UBERON:0001905	biolink:AnatomicalEntity	pineal body			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001905		
UBERON:0001901	biolink:AnatomicalEntity	epithelium of trachea			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001901		
HGNC:23063	biolink:NamedThing	NUDT15			mondo.json		http://identifiers.org/hgnc/23063		
HGNC:23068	biolink:NamedThing	TRAPPC2			mondo.json		http://identifiers.org/hgnc/23068		
UBERON:0001908	biolink:AnatomicalEntity	optic tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001908		
GO:1901019	biolink:NamedThing	regulation of calcium ion transmembrane transporter activity	Any process that modulates the frequency, rate or extent of calcium ion transmembrane transporter activity.		mondo.json		http://purl.obolibrary.org/obo/GO_1901019		
HP:0008609	biolink:PhenotypicFeature	Morphological abnormality of the middle ear	An abnormality of the morphology or structure of the middle ear.	UMLS:C1857456	mondo.json	Middle ear malformation|Morphological abnormality of the middle ear	http://purl.obolibrary.org/obo/HP_0008609		
GO:1901020	biolink:NamedThing	negative regulation of calcium ion transmembrane transporter activity	Any process that stops, prevents or reduces the frequency, rate or extent of calcium ion transmembrane transporter activity.		mondo.json	inhibition of calcium ion transmembrane transporter activity|down-regulation of calcium ion transmembrane transporter activity|downregulation of calcium ion transmembrane transporter activity|down regulation of calcium ion transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_1901020		
NCBITaxon:554915	biolink:OrganismalEntity	Amoebozoa		PMID:30257078|PMID:23020233|GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_554915		
NCBITaxon:1933187	biolink:OrganismalEntity	Rift Valley fever phlebovirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1933187		
GO:1901021	biolink:NamedThing	positive regulation of calcium ion transmembrane transporter activity	Any process that activates or increases the frequency, rate or extent of calcium ion transmembrane transporter activity.		mondo.json	upregulation of calcium ion transmembrane transporter activity|up regulation of calcium ion transmembrane transporter activity|up-regulation of calcium ion transmembrane transporter activity|activation of calcium ion transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_1901021		
HGNC:11094	biolink:NamedThing	SNAI2			mondo.json		http://identifiers.org/hgnc/11094		
HGNC:11098	biolink:NamedThing	SMARCA2			mondo.json		http://identifiers.org/hgnc/11098		
GO:0097447	biolink:NamedThing	dendritic tree	The entire complement of dendrites for a neuron, consisting of each primary dendrite and all its branches.		mondo.json		http://purl.obolibrary.org/obo/GO_0097447		
UBERON:5106048	biolink:AnatomicalEntity	digit 1 digitopodial skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_5106048		
HGNC:23041	biolink:NamedThing	PDSS2			mondo.json		http://identifiers.org/hgnc/23041		
HGNC:23044	biolink:NamedThing	NANOS1			mondo.json		http://identifiers.org/hgnc/23044		
HGNC:11067	biolink:NamedThing	SLC7A9			mondo.json		http://identifiers.org/hgnc/11067		
HGNC:11065	biolink:NamedThing	SLC7A7			mondo.json		http://identifiers.org/hgnc/11065		
HGNC:23056	biolink:NamedThing	ALG3			mondo.json		http://identifiers.org/hgnc/23056		
UBERON:5106052	biolink:AnatomicalEntity	digit 5 digitopodial skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_5106052		
HGNC:11079	biolink:NamedThing	SLC9A6			mondo.json		http://identifiers.org/hgnc/11079		
HGNC:11073	biolink:NamedThing	SLC9A3			mondo.json		http://identifiers.org/hgnc/11073		
HGNC:11071	biolink:NamedThing	SLC9A1			mondo.json		http://identifiers.org/hgnc/11071		
SO:0000400	biolink:SequenceFeature	sequence_attribute	An attribute describes a quality of sequence.		mondo.json	sequence attribute	http://purl.obolibrary.org/obo/SO_0000400		
HGNC:11075	biolink:NamedThing	SLC9A3R1			mondo.json		http://identifiers.org/hgnc/11075		
SO:0000401	biolink:SequenceFeature	gene_attribute	An attribute describing a gene.		mondo.json	gene attribute	http://purl.obolibrary.org/obo/SO_0000401		
MONDO:0002457	biolink:Disease	Treacher-Collins syndrome	Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.	NCIT:C75018|DOID:2908|Orphanet:861|OMIMPS:154500|MedDRA:10051456|GARD:0009124|SCTID:62767009|UMLS:C0265241	mondo.json	Franceschetti syndrome|mandibulofacial dysostosis without limb anomalies|Treacher Collins syndrome|TCOF|MFD1|Franceschetti-Klein syndrome|TCS|Treacher-Collins syndrome	http://purl.obolibrary.org/obo/MONDO_0002457	Orphanet:861|DOID:2908|http://identifiers.org/snomedct/62767009|https://omim.org/phenotypicSeries/PS154500|UMLS:C0265241|NCIT:C75018	ordo_malformation_syndrome|prototype_pattern
MONDO:0002458	biolink:Disease	obsolete acute pancreatitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002458		
MONDO:0002459	biolink:Disease	type IV hypersensitivity disease	A disease that has its basis in the disruption of type IV hypersensitivity.	UMLS:C0020522|DOID:2916|NCIT:C3115	mondo.json	type IV hypersensitivity reaction|delayed hypersensitivity reaction|DTH|type 4 hypersensitivity reaction|delayed-type hypersensitivity response|immunoproliferative disease|type IV hypersensitivity|delayed-type hypersensitivity|disorder of type IV hypersensitivity|hypersensitivity reaction type IV disease	http://purl.obolibrary.org/obo/MONDO_0002459	DOID:2916|NCIT:C3115|UMLS:C0020522	
HGNC:23026	biolink:NamedThing	GNPTG			mondo.json		http://identifiers.org/hgnc/23026		
MONDO:0002453	biolink:Disease	retrocochlear disease	Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss.	UMLS:C0035352|DOID:2889|MESH:D012181	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002453	UMLS:C0035352|DOID:2889|http://identifiers.org/mesh/D012181	
HGNC:8490	biolink:NamedThing	ORC4			mondo.json		http://identifiers.org/hgnc/8490		
MONDO:0002454	biolink:Disease	obsolete thyroid adenoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002454		
MONDO:0002455	biolink:Disease	exocervical carcinoma	A carcinoma that arises from the squamous epithelium of the exocervix.	DOID:2892|UMLS:C1299238|NCIT:C7453|SCTID:372100004	mondo.json	exocervix carcinoma|exocervical cancer|exocervical carcinoma|carcinoma of the exocervix|carcinoma of exocervix|carcinoma of ectocervix|ectocervix carcinoma	http://purl.obolibrary.org/obo/MONDO_0002455	NCIT:C7453|DOID:2892|UMLS:C1299238|http://identifiers.org/snomedct/372100004	
MONDO:0026426	biolink:Disease	X inactivation, familial skewed, 2		MESH:C564572|OMIM:300179	mondo.json	X INACTIVATION, FAMILIAL SKEWED, 2|SXI2|X-inactivation, familial skewed, 2	http://purl.obolibrary.org/obo/MONDO_0026426	http://identifiers.org/mesh/C564572|https://omim.org/entry/300179	
CHEBI:26820	biolink:ChemicalSubstance	sulfates	Salts and esters of sulfuric acid		mondo.json	sulphates|sulfates|sulfuric acid derivative	http://purl.obolibrary.org/obo/CHEBI_26820		
MONDO:0002456	biolink:Disease	obsolete cervix carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002456		
MONDO:0002450	biolink:Disease	prostatic adenoma	Focal benign glandular hyperplasia in the prostate gland.	UMLS:C0520477|ICD9:600.20|NCIT:C4795|SCTID:266569009|DOID:2883|MESH:D011470|SCTID:21173002	mondo.json	adenoma of prostate|benign adenoma of prostate|prostate adenoma|prostate gland adenoma|adenoma - prostate|adenoma of the prostate	http://purl.obolibrary.org/obo/MONDO_0002450	DOID:2883|UMLS:C0520477|NCIT:C4795|http://identifiers.org/snomedct/21173002	
UBERON:0035286	biolink:AnatomicalEntity	lateral wall of oropharynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035286		
UBERON:0035289	biolink:AnatomicalEntity	axillary tail of breast			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035289		
MONDO:0002451	biolink:Disease	benign prostate phyllodes tumor	A rare benign neoplasm that arises from the prostate gland and is characterized by the presence of hyperplastic glands and stroma that contains spindle-shaped cells.	NCIT:C5532|DOID:2885|UMLS:C1332535	mondo.json	benign prostate phyllodes tumor|prostate phyllodes tumor|benign phyllodes neoplasm of prostate|benign phyllodes neoplasm of the prostate|prostate phyllodes tumor, benign|phyllodes neoplasm of the prostate|benign phyllodes tumor of prostate|benign phyllodes tumor of the prostate|benign prostate phyllodes neoplasm	http://purl.obolibrary.org/obo/MONDO_0002451	DOID:2885|NCIT:C5532|UMLS:C1332535	
MONDO:0002452	biolink:Disease	prostate leiomyoma	A benign smooth muscle neoplasm arising from the prostate. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	UMLS:C1335510|NCIT:C5544|DOID:2887	mondo.json	leiomyoma of the prostate|leiomyoma of prostate gland|prostate leiomyoma|prostate gland leiomyoma|prostatic leiomyoma|leiomyoma of prostate	http://purl.obolibrary.org/obo/MONDO_0002452	DOID:2887|NCIT:C5544|UMLS:C1335510	
MONDO:0014446	biolink:Disease	Bardet-Biedl syndrome 18	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene.	UMLS:C3806174|OMIM:615995|DOID:0110140	mondo.json	BBIP1 Bardet-Biedl syndrome|Bardet-Biedl syndrome type 18|Bardet-Biedl syndrome caused by mutation in BBIP1|Bardet-Biedl syndrome 18|BBS18	http://purl.obolibrary.org/obo/MONDO_0014446	DOID:0110140|https://omim.org/entry/615995|UMLS:C3806174	
HGNC:11049	biolink:NamedThing	SLC6A3			mondo.json		http://identifiers.org/hgnc/11049		
MONDO:0014445	biolink:Disease	Bardet-Biedl syndrome 17	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene.	DOID:0110139|UMLS:C3714980|OMIM:615994	mondo.json	BBS17|LZTFL1 Bardet-Biedl syndrome|Bardet-Biedl syndrome 17|Bardet-Biedl syndrome caused by mutation in LZTFL1|Bardet-Biedl syndrome type 17	http://purl.obolibrary.org/obo/MONDO_0014445	DOID:0110139|https://omim.org/entry/615994|UMLS:C3714980	
GO:2000064	biolink:NamedThing	regulation of cortisol biosynthetic process	Any process that modulates the frequency, rate or extent of cortisol biosynthetic process.		mondo.json	regulation of cortisol synthesis|regulation of cortisol anabolism|regulation of cortisol formation|regulation of cortisol biosynthesis	http://purl.obolibrary.org/obo/GO_2000064		
HGNC:11048	biolink:NamedThing	SLC6A2			mondo.json		http://identifiers.org/hgnc/11048		
MONDO:0014444	biolink:Disease	Bardet-Biedl syndrome 16	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene.	OMIM:615993|DOID:0110138|UMLS:C3889474	mondo.json	Bardet-Biedl syndrome 16|BBS16|SDCCAG8 Bardet-Biedl syndrome|Bardet-Biedl syndrome type 16|Bardet-Biedl syndrome caused by mutation in SDCCAG8	http://purl.obolibrary.org/obo/MONDO_0014444	https://omim.org/entry/615993|UMLS:C3889474|DOID:0110138	clingen
GO:2000065	biolink:NamedThing	negative regulation of cortisol biosynthetic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cortisol biosynthetic process.		mondo.json	negative regulation of cortisol biosynthesis|negative regulation of cortisol synthesis|negative regulation of cortisol anabolism|negative regulation of cortisol formation	http://purl.obolibrary.org/obo/GO_2000065		
GO:2000066	biolink:NamedThing	positive regulation of cortisol biosynthetic process	Any process that activates or increases the frequency, rate or extent of cortisol biosynthetic process.		mondo.json	positive regulation of cortisol formation|positive regulation of cortisol biosynthesis|positive regulation of cortisol synthesis|positive regulation of cortisol anabolism	http://purl.obolibrary.org/obo/GO_2000066		
MONDO:0014443	biolink:Disease	Bardet-Biedl syndrome 15	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene.	OMIM:615992|DOID:0110137|UMLS:C3150127	mondo.json	Bardet-Biedl syndrome 15|BBS15|Bardet-Biedl syndrome type 15|WDPCP Bardet-Biedl syndrome|Bardet-Biedl syndrome caused by mutation in WDPCP	http://purl.obolibrary.org/obo/MONDO_0014443	https://omim.org/entry/615992|UMLS:C3150127|DOID:0110137	
MONDO:0014449	biolink:Disease	congenital analbuminemia	Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).	UMLS:C4305253|SCTID:718721006|GARD:0013056|Orphanet:86816|OMIM:616000|NCIT:C124851	mondo.json	analbuminemia|ANALBA	http://purl.obolibrary.org/obo/MONDO_0014449	NCIT:C124851|UMLS:C4305253|http://identifiers.org/snomedct/718721006|https://omim.org/entry/616000|Orphanet:86816	ordo_disease|gard_rare
MONDO:0014448	biolink:Disease	hyperthyroxinemia, familial dysalbuminemic	An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4.	NCIT:C131813|MESH:D050010|SCTID:237547004|OMIM:615999|Orphanet:276271	mondo.json	dysalbuminemic hyperthyroxinemia|familial Dysalbuminemic hyperthyroxinemia|FDAH|bisalbuminemia|euthyroid hyperthyroxinemia 1|hyperthyroxinemia, familial dysalbuminemic|familial Dysalbuminemic hyperthyroidism|dysalbuminemic hypertriiodothyroninemia|FDH|hyperthyroxinemia, familial Dysalbuminemic	http://purl.obolibrary.org/obo/MONDO_0014448	NCIT:C131813|http://identifiers.org/snomedct/237547004|Orphanet:276271|https://omim.org/entry/615999|http://identifiers.org/mesh/D050010	
MONDO:0014447	biolink:Disease	Bardet-Biedl syndrome 19	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene.	OMIM:615996|UMLS:C3889475|DOID:0110141	mondo.json	Bardet-Biedl syndrome type 19|Bardet-Biedl syndrome caused by mutation in IFT27|Bardet-Biedl syndrome 19|BBS19|IFT27 Bardet-Biedl syndrome	http://purl.obolibrary.org/obo/MONDO_0014447	DOID:0110141|https://omim.org/entry/615996|UMLS:C3889475	
HGNC:11040	biolink:NamedThing	SLC5A5			mondo.json		http://identifiers.org/hgnc/11040		
MONDO:0026419	biolink:Disease	obsolete isolated corpus callosum agenesis	OBSOLETE. A rare non-syndromic cerebral malformation characterized by congenital partial or complete absence of the corpus callosum. Patients are often asymptomatic but may also present with intellectual disability, visual impairment, delayed speech development, seizures, feeding difficulties, impaired hand-eye coordination, and behavioral abnormalities. Patients may have a normal intelligence quotient while exhibiting specific cognitive deficits, such as reduced interhemispheric transfer of sensorimotor information, reduced cognitive processing speed, and deficits in complex reasoning and novel problem-solving. [Orphanet:200]	ICD10CM:Q04.0|Orphanet:200	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026419	Orphanet:200	
MONDO:0014442	biolink:Disease	Bardet-Biedl syndrome 14	A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21.	DOID:0110136|MESH:C567141|OMIM:615991|UMLS:C2673874	mondo.json	Bardet-Biedl syndrome 14, modifier of|Bardet-Biedl syndrome 14|Bardet-Biedl syndrome type 14|BBS14	http://purl.obolibrary.org/obo/MONDO_0014442	https://omim.org/entry/615991|UMLS:C2673874|http://identifiers.org/mesh/C567141|DOID:0110136	clingen
MONDO:0014441	biolink:Disease	Bardet-Biedl syndrome 13	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene.	DOID:0110135|OMIM:615990|MESH:C567140|UMLS:C2673873	mondo.json	Bardet-Biedl syndrome caused by mutation in MKS1|Bardet-Biedl syndrome 13|Bardet-Biedl syndrome type 13|MKS1 Bardet-Biedl syndrome|BBS13	http://purl.obolibrary.org/obo/MONDO_0014441	https://omim.org/entry/615990|UMLS:C2673873|http://identifiers.org/mesh/C567140|DOID:0110135	
MONDO:0014440	biolink:Disease	Bardet-Biedl syndrome 12	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene.	DOID:0110134|EFO:0009023|MESH:C565921|OMIM:615989|GARD:0010211|UMLS:C1859570	mondo.json	BBS12 Bardet-Biedl syndrome|BBS12|Bardet-Biedl syndrome caused by mutation in BBS12|Bardet-Biedl syndrome 12|Bardet-Biedl syndrome type 12	http://purl.obolibrary.org/obo/MONDO_0014440	https://omim.org/entry/615989|UMLS:C1859570|DOID:0110134|http://identifiers.org/mesh/C565921	
HGNC:11042	biolink:NamedThing	SLC6A1			mondo.json		http://identifiers.org/hgnc/11042		
CHEBI:26833	biolink:ChemicalSubstance	sulfur atom			mondo.json	Schwefel|theion|S|Elemental sulfur|soufre|sulphur|sulfur|16S|azufre|sulfur	http://purl.obolibrary.org/obo/CHEBI_26833		
MONDO:0002468	biolink:Disease	hyperimmunoglobulin syndrome		DOID:2959|NCIT:C27579|UMLS:C1334069	mondo.json	hyperimmunoglobulin syndrome	http://purl.obolibrary.org/obo/MONDO_0002468	NCIT:C27579|DOID:2959|UMLS:C1334069	
HGNC:23038	biolink:NamedThing	LMBRD1			mondo.json		http://identifiers.org/hgnc/23038		
MONDO:0002469	biolink:Disease	lacrimal gland carcinoma ex pleomorphic adenoma	A carcinoma arising in a pre-existing pleomorphic adenoma in the lacrimal gland.	UMLS:C0346342|DOID:296|NCIT:C6804|SCTID:254989000	mondo.json	malignant mixed neoplasm of the lacrimal gland|lacrimal gland carcinoma ex pleomorphic adenoma|carcinoma Ex pleomorphic adenoma of the lacrimal gland|malignant mixed tumor of lacrimal gland|malignant mixed tumor of the lacrimal gland|mixed lacrimal gland cancer|carcinoma ex pleomorphic adenoma of lacrimal gland|carcinoma ex pleomorphic adenoma of the lacrimal gland|malignant mixed neoplasm of lacrimal gland|lacrimal gland malignant mixed neoplasm|lacrimal gland malignant mixed tumor	http://purl.obolibrary.org/obo/MONDO_0002469	http://identifiers.org/snomedct/254989000|NCIT:C6804|UMLS:C0346342|DOID:296	
CHEBI:26835	biolink:ChemicalSubstance	sulfur molecular entity			mondo.json	sulfur molecular entities|sulfur molecular entity	http://purl.obolibrary.org/obo/CHEBI_26835		
CHR:9606-chr4q21	biolink:NamedThing	4q21 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr4q21		
CHEBI:26836	biolink:ChemicalSubstance	sulfuric acid	A sulfur oxoacid that consists of two oxo and two hydroxy groups joined covalently to a central sulfur atom.		mondo.json	Acide sulfurique|[S(OH)2O2]|Acidum sulfuricum|hydrogen tetraoxosulfate(VI)|sulphuric acid|Sulfuric acid|sulfuric acid|Schwefelsaeureloesungen|H2SO4|[SO2(OH)2]|Acido sulfurico|dihydroxidodioxidosulfur|hydrogen tetraoxosulfate(2-)|dihydrogen tetraoxosulfate|tetraoxosulfuric acid	http://purl.obolibrary.org/obo/CHEBI_26836		
MONDO:0002464	biolink:Disease	lacrimal gland cancer	A malignant neoplasm involving the lacrimal gland.	NCIT:C3563|SCTID:127004000|ICD9:190.2|ICD9:239.89|DOID:294	mondo.json	malignant tumour of lacrimal gland|cancer of lacrimal gland|malignant neoplasm of lacrimal gland|malignant tumor of lacrimal gland|malignant tumor of the lacrimal gland|tumor of the lacrimal gland|lacrimal gland cancer|malignant lacrimal gland tumor|malignant neoplasm of the lacrimal gland|malignant lacrimal gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0002464	http://identifiers.org/snomedct/127004000|NCIT:C3563|DOID:294	
MONDO:0002465	biolink:Disease	bronchiolitis	Inflammation of the bronchioles characterized by swelling of the bronchioles and mucus accumulation. It is usually caused by the respiratory syncytial virus and affects children. Signs and symptoms include coughing, wheezing, and shortness of breath.	NCIT:C39658|HP:0011950|UMLS:C0006271|DOID:2942|ICD9:466.19|MESH:D001988|SCTID:4120002	mondo.json	viral bronchiolitis|RSV bronchiolitis|wheezy bronchitis|bronchiolitis|bronchiolitis (disease)	http://purl.obolibrary.org/obo/MONDO_0002465	UMLS:C0006271|http://identifiers.org/snomedct/4120002|NCIT:C39658|DOID:2942|http://identifiers.org/mesh/D001988	
MONDO:0002466	biolink:Disease	eye carcinoma	A carcinoma that arises from epithelial cells of the eye	UMLS:C0848866|DOID:295|NCIT:C6079	mondo.json	ocular carcinoma|carcinoma of eye|eyeball of camera-type eye carcinoma|carcinoma of the eye|eye carcinoma|carcinoma of eyeball of camera-type eye	http://purl.obolibrary.org/obo/MONDO_0002466	NCIT:C6079|UMLS:C0848866|DOID:295	
CHR:9606-chr4q25	biolink:NamedThing	4q25 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr4q25		
MONDO:0002467	biolink:Disease	inner ear disorder	A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems.	MESH:D007759|NCIT:C27166|ICD10CM:H80-H83|DOID:2952|SCTID:232297009	mondo.json	internal Ear disorder|internal ear disease or disorder|disorder of internal ear|labyrinthine disease|disease of internal ear|disease or disorder of internal ear|vestibular disorder|internal ear disease|inner Ear disorder	http://purl.obolibrary.org/obo/MONDO_0002467	http://identifiers.org/mesh/D007759|NCIT:C27166|http://identifiers.org/snomedct/232297009|http://purl.bioontology.org/ontology/ICD10CM/H80-H83|DOID:2952	
UBERON:0035295	biolink:AnatomicalEntity	left ear			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035295		
MONDO:0002460	biolink:Disease	lacrimal system cancer	A cancer that involves the lacrimal apparatus.	NCIT:C5102|UMLS:C1334361|DOID:292|SCTID:416510003	mondo.json	lacrimal apparatus cancer|malignant lacrimal apparatus neoplasm|cancer of lacrimal apparatus|neoplasm of the lacrimal system|neoplasm of lacrimal system|lacrimal system tumor|lacrimal system neoplasm|lacrimal system neoplasms|malignant neoplasm of lacrimal apparatus|tumor of the lacrimal system|tumor of lacrimal system	http://purl.obolibrary.org/obo/MONDO_0002460	UMLS:C1334361|http://identifiers.org/snomedct/416510003|DOID:292|NCIT:C5102	
UBERON:0035298	biolink:AnatomicalEntity	tuberculum sellae			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035298		
MONDO:0002461	biolink:Disease	membranoproliferative glomerulonephritis	Inflammation of the glomeruli characterized by deposits at the intraglomerular mesangium, resulting in thickening of the glomerular basement membrane, activation of complement, and impaired kidney function secondary to damaged glomeruli.	HP:0000793|MESH:D015432|UMLS:C0017662|NCIT:C34644|DOID:2920|SCTID:80321008	mondo.json	membranoproliferative glomerulonephritis|membranoproliferative glomerulonephritis (disease)|lobular glomerulonephritis|chronic glomerulonephritis, lobular	http://purl.obolibrary.org/obo/MONDO_0002461	DOID:2920|UMLS:C0017662|http://identifiers.org/mesh/D015432|http://identifiers.org/snomedct/80321008|NCIT:C34644	
MONDO:0002462	biolink:Disease	glomerulonephritis	A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies.	UMLS:C0017658|NCIT:C26784|HP:0000099|ICD9:583.9|DOID:2921|GARD:0006516|SCTID:36171008|MESH:D005921	mondo.json	renal glomerulus nephritis|glomerulonephritis|bright's disease|glomerulonephritis (disease)|nephritis of renal glomerulus|glomerular nephritis	http://purl.obolibrary.org/obo/MONDO_0002462	DOID:2921|NCIT:C26784|UMLS:C0017658|http://identifiers.org/mesh/D005921|http://identifiers.org/snomedct/36171008	
MONDO:0014429	biolink:Disease	autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	A genetic variant of Mendelian susceptibility to mycobacterial disease characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).	OMIM:615978|UMLS:C4014863|Orphanet:319581	mondo.json	immunodeficiency 27B, mycobacteriosis, AD|immunodeficiency type 27B|autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency|autosomal dominant MSMD due to partial IFNgammaR1 deficiency|IMD27B|immunodeficiency 27B, Mycobacteriosis, autosomal dominant|IFNGR1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency|autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1|immunodeficiency 27B|autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency|IFNGR1 deficiency, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0014429	UMLS:C4014863|https://omim.org/entry/615978|Orphanet:319581	ordo_disease|predisposition
MONDO:0002463	biolink:Disease	lacrimal gland carcinoma	A carcinoma that arises from epithelial cells of the lacrimal gland.	UMLS:C1334358|NCIT:C6129|DOID:293	mondo.json	carcinoma of the lacrimal gland|carcinoma of lacrimal gland|lacrimal gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0002463	UMLS:C1334358|DOID:293|NCIT:C6129	
HGNC:25695	biolink:NamedThing	CARS2			mondo.json		http://identifiers.org/hgnc/25695		
MONDO:0014435	biolink:Disease	Bardet-Biedl syndrome 7	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene.	DOID:0110129|MESH:C565916|EFO:0009026|OMIM:209900|GARD:0010206|UMLS:C1859565|OMIM:615984	mondo.json	BBS7 Bardet-Biedl syndrome|Bardet-Biedl syndrome 7|BBS7|Bardet-Biedl syndrome type 7|Bardet-Biedl syndrome caused by mutation in BBS7	http://purl.obolibrary.org/obo/MONDO_0014435	DOID:0110129|http://identifiers.org/mesh/C565916|https://omim.org/entry/615984|UMLS:C1859565	gard_rare
MONDO:0014434	biolink:Disease	Bardet-Biedl syndrome 5	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene.	OMIM:615983|DOID:0110127|EFO:0009025|GARD:0010204|OMIM:209900|UMLS:C3892039	mondo.json	Bardet-Biedl syndrome 5|BBS5 Bardet-Biedl syndrome|Bardet-Biedl syndrome type 5|BBS5|Bardet-Biedl syndrome caused by mutation in BBS5	http://purl.obolibrary.org/obo/MONDO_0014434	DOID:0110127|https://omim.org/entry/615983|UMLS:C3892039	gard_rare
MONDO:0014433	biolink:Disease	Bardet-Biedl syndrome 4		OMIM:615982|DOID:0110126|EFO:0009024|UMLS:C2936864|OMIM:209900|GARD:0000823|MESH:C537912	mondo.json	Bardet-Biedl syndrome 4|Bardet-Biedl syndrome type 4|BBS4	http://purl.obolibrary.org/obo/MONDO_0014433	http://identifiers.org/mesh/C537912|DOID:0110126|https://omim.org/entry/615982|UMLS:C2936864	gard_rare
MONDO:0014432	biolink:Disease	Bardet-Biedl syndrome 2	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene.	DOID:0110124|OMIM:615981|UMLS:C2936863|GARD:0000821|OMIM:209900|MESH:C537910	mondo.json	Bardet-Biedl syndrome|Bardet-Biedl syndrome type 2|Bardet-Biedl syndrome 2|BBS2|BBS2 Bardet-Biedl syndrome|BBS|Bardet-Biedl syndrome caused by mutation in BBS2	http://purl.obolibrary.org/obo/MONDO_0014432	DOID:0110124|https://omim.org/entry/615981|UMLS:C2936863|http://identifiers.org/mesh/C537910	
MONDO:0014439	biolink:Disease	Bardet-Biedl syndrome 11	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene.	GARD:0010210|OMIM:615988|UMLS:C1859569|DOID:0110133|MESH:C565920	mondo.json	Bardet-Biedl syndrome caused by mutation in TRIM32|Bardet-Biedl syndrome type 11|Bardet-Biedl syndrome 11|TRIM32 Bardet-Biedl syndrome|BBS11	http://purl.obolibrary.org/obo/MONDO_0014439	DOID:0110133|http://identifiers.org/mesh/C565920|https://omim.org/entry/615988|UMLS:C1859569	
MONDO:0014438	biolink:Disease	Bardet-Biedl syndrome 10	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene.	MESH:C565919|OMIM:615987|GARD:0010209|UMLS:C1859568|DOID:0110132|EFO:0009022	mondo.json	BBS10|Bardet-Biedl syndrome type 10|Bardet-Biedl syndrome 10|BBS10 Bardet-Biedl syndrome|Bardet-Biedl syndrome caused by mutation in BBS10	http://purl.obolibrary.org/obo/MONDO_0014438	DOID:0110132|http://identifiers.org/mesh/C565919|https://omim.org/entry/615987|UMLS:C1859568	
MONDO:0014437	biolink:Disease	Bardet-Biedl syndrome 9	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene.	MESH:C565918|EFO:0009027|OMIM:615986|OMIM:209900|GARD:0010208|UMLS:C1859567|DOID:0110131	mondo.json	Bardet-Biedl syndrome type 9|BBS9 Bardet-Biedl syndrome|Bardet-Biedl syndrome 9|Bardet-Biedl syndrome caused by mutation in BBS9|BBS9	http://purl.obolibrary.org/obo/MONDO_0014437	DOID:0110131|http://identifiers.org/mesh/C565918|https://omim.org/entry/615986|UMLS:C1859567	gard_rare
MONDO:0014436	biolink:Disease	Bardet-Biedl syndrome 8	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene.	MESH:C565917|OMIM:615985|OMIM:209900|GARD:0010207|UMLS:C1859566|DOID:0110130	mondo.json	BBS8|Bardet-Biedl syndrome type 8|TTC8 Bardet-Biedl syndrome|Bardet-Biedl syndrome 8|Bardet-Biedl syndrome caused by mutation in TTC8	http://purl.obolibrary.org/obo/MONDO_0014436	DOID:0110130|http://identifiers.org/mesh/C565917|https://omim.org/entry/615985|UMLS:C1859566	gard_rare
HGNC:11051	biolink:NamedThing	SLC6A5			mondo.json		http://identifiers.org/hgnc/11051		
HGNC:11050	biolink:NamedThing	SLC6A4			mondo.json		http://identifiers.org/hgnc/11050		
MONDO:0014431	biolink:Disease	LIPE-related familial partial lipodystrophy		OMIM:615980|Orphanet:435660|UMLS:C4014869|DOID:0070206|GARD:0013126	mondo.json	lipodystrophy, familial partial, type 6|LIPE-related FPLD|lipodystrophy, familial partial, associated with Lipe mutations|familial partial lipodystrophy associated with LIPE mutations|FPLD6|familial partial lipodystrophy type 6	http://purl.obolibrary.org/obo/MONDO_0014431	Orphanet:435660|UMLS:C4014869|https://omim.org/entry/615980|DOID:0070206	ordo_disease|gard_rare
HGNC:11056	biolink:NamedThing	SLC6A9			mondo.json		http://identifiers.org/hgnc/11056		
MONDO:0014430	biolink:Disease	intellectual disability, autosomal recessive 45	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene.	OMIM:615979|UMLS:C4014864	mondo.json	FBXO31 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive type 45|intellectual disability, autosomal recessive 45|mental retardation, autosomal recessive 45|mental retardation, autosomal recessive type 45|MRT45|autosomal recessive non-syndromic intellectual disability caused by mutation in FBXO31	http://purl.obolibrary.org/obo/MONDO_0014430	UMLS:C4014864|https://omim.org/entry/615979	
HGNC:11055	biolink:NamedThing	SLC6A8			mondo.json		http://identifiers.org/hgnc/11055		
MONDO:0002435	biolink:Disease	oculomotor nerve neoplasm	A neoplasm involving a oculomotor nerve.	NCIT:C6994|ICD9:239.7|DOID:2817|SCTID:126969002|UMLS:C1263895	mondo.json	neoplasm of oculomotor nerve|oculomotor nerve tumor|IIIrd cranial nerve tumor|cranial nerve III tumor|oculomotor nerve neoplasm|tumor of oculomotor nerve|oculomotor nerve neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0002435	http://identifiers.org/snomedct/126969002|DOID:2817|NCIT:C6994|UMLS:C1263895	
MONDO:0002436	biolink:Disease	nasal disorder	A disease involving the nose.	ICD9:478.19|MESH:D009668|UMLS:C0028432|DOID:2825|SCTID:89488007	mondo.json	disorder of the nose|nose disease or disorder|disorder of nose|nasal disorder|nose disease|disease or disorder of nose|disease of nose	http://purl.obolibrary.org/obo/MONDO_0002436	http://identifiers.org/snomedct/89488007|http://identifiers.org/mesh/D009668|DOID:2825|UMLS:C0028432	
MONDO:0002437	biolink:Disease	dehydration polycythemia	Polycythemia resulting from dehydration.	UMLS:C0856815|NCIT:C27310|DOID:2833	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002437	UMLS:C0856815|NCIT:C27310|DOID:2833	
MONDO:0002438	biolink:Disease	acquired polycythemia	An instance of polycythemia that is acquired during the lifetime of the individual.	UMLS:C1318533|NCIT:C27178|ICD9:289.0|DOID:2834	mondo.json	acquired polycythemia|polycythemia, secondary|acquired polycythemia (disease)	http://purl.obolibrary.org/obo/MONDO_0002438	DOID:2834	
MONDO:0002431	biolink:Disease	obsolete nonspecific interstitial pneumonia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002431		
MONDO:0002432	biolink:Disease	malignant neoplasm of acoustic nerve	A malignant neoplasm involving the vestibulocochlear nerve.	SCTID:254980001|UMLS:C0346331|NCIT:C4539|DOID:2814	mondo.json	vestibulocochlear nerve cancer|malignant neoplasm of the acoustic nerve|malignant acoustic nerve tumor|malignant tumor of vestibulocochlear nerve|malignant neoplasm of eighth cranial nerve|cancer of the vestibulocochlear nerve|malignant eighth cranial nerve neoplasm|malignant eighth cranial nerve tumor|malignant vestibulocochlear nerve neoplasm|malignant neoplasm of the eighth cranial nerve|malignant acoustic nerve neoplasm|malignant neoplasm of vestibulocochlear nerve|malignant tumor of the vestibulocochlear nerve|malignant neoplasm of the vestibulocochlear nerve|malignant tumor of acoustic vestibular nerve|malignant tumor of acoustic nerve|malignant tumor of the acoustic nerve|cancer of vestibulocochlear nerve|malignant vestibulocochlear nerve tumor|malignant tumor of eighth cranial nerve|malignant tumor of the eighth cranial nerve|malignant tumour of acoustic vestibular nerve	http://purl.obolibrary.org/obo/MONDO_0002432	http://identifiers.org/snomedct/254980001|DOID:2814|NCIT:C4539|UMLS:C0346331	
MONDO:0026404	biolink:Disease	X inactivation, familial skewed, 1		OMIM:300087|MESH:C564716	mondo.json	X INACTIVATION, FAMILIAL SKEWED, 1|X-inactivation, familial skewed|X inactivation, familial skewed, 1|SXI1|X-inactivation, familial skewed, 1	http://purl.obolibrary.org/obo/MONDO_0026404	https://omim.org/entry/300087|http://identifiers.org/mesh/C564716	
SO:0000460	biolink:SequenceFeature	vertebrate_immunoglobulin_T_cell_receptor_segment	Germline genomic DNA with the sequence for a V, D, C, or J portion of an immunoglobulin/T-cell receptor.		mondo.json	vertebrate_immunoglobulin/T-cell receptor gene|vertebrate immunoglobulin T cell receptor segment	http://purl.obolibrary.org/obo/SO_0000460		
MONDO:0002433	biolink:Disease	malignant cranial nerve neoplasm	Abnormal malignant growth of the cells that comprise the cranial nerve.	NCIT:C3571|SCTID:188307009|UMLS:C0153644|ICD9:192.0|DOID:2815	mondo.json	malignant neoplasm of cranial nerves|malignant tumor of the cranial nerve|malignant neoplasm of cranial nerve|malignant neoplasm of the cranial nerve|malignant cranial nerve tumor|malignant tumor of cranial nerve|cranial nerve malignant neoplasm|malignant cranial nerve neoplasm|cranial nerve neoplasm, malignant|cancer of cranial nerve|cranial nerve cancer	http://purl.obolibrary.org/obo/MONDO_0002433	http://identifiers.org/snomedct/188307009|DOID:2815|UMLS:C0153644|NCIT:C3571	
MONDO:0002434	biolink:Disease	oculomotor nerve cancer	A cancer involving a oculomotor nerve.	SCTID:93929003|NCIT:C6995|DOID:2816|UMLS:C0686417	mondo.json	cancer of oculomotor nerve|primary malignant neoplasm of oculomotor nerve|oculomotor nerve neoplasm, malignant|malignant oculomotor nerve tumor|oculomotor nerve cancer|malignant neoplasm of oculomotor nerve|malignant oculomotor nerve neoplasm|IIIrd cranial nerve neoplasm, malignant	http://purl.obolibrary.org/obo/MONDO_0002434	UMLS:C0686417|DOID:2816|NCIT:C6995|http://identifiers.org/snomedct/93929003	
UBERON:0011298	biolink:AnatomicalEntity	submucosa of uterine tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011298		
HGNC:25660	biolink:NamedThing	TTC21B			mondo.json		http://identifiers.org/hgnc/25660		
MONDO:0014419	biolink:Disease	ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.	UMLS:C4014821|Orphanet:370022|OMIM:615960	mondo.json	ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome|Poretti-Boltshauser syndrome|PORETTI-Boltshauser syndrome|PTBHS	http://purl.obolibrary.org/obo/MONDO_0014419	UMLS:C4014821|https://omim.org/entry/615960|Orphanet:370022	ordo_disease
MONDO:0002430	biolink:Disease	obsolete acute interstitial pneumonia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002430		
MONDO:0014418	biolink:Disease	myopathy, centronuclear, 5	Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene.	OMIM:615959|DOID:0111222|UMLS:C4014814	mondo.json	CNM5|SPEG autosomal recessive centronuclear myopathy|myopathy, centronuclear, type 5|centronuclear myopathy 5|autosomal recessive centronuclear myopathy caused by mutation in SPEG|myopathy, centronuclear, 5	http://purl.obolibrary.org/obo/MONDO_0014418	DOID:0111222|UMLS:C4014814|https://omim.org/entry/615959	
HGNC:25662	biolink:NamedThing	AAGAB			mondo.json		http://identifiers.org/hgnc/25662		
UBERON:0011299	biolink:AnatomicalEntity	white matter of telencephalon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011299		
MONDO:0014424	biolink:Disease	obsolete congenital deficiency in alpha-fetoprotein	OBSOLETE. Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate.	MESH:C566300|UMLS:C1863081|OMIM:615969|Orphanet:168612	mondo.json	ALPHA-fetoprotein deficiency|AFPD	http://purl.obolibrary.org/obo/MONDO_0014424	http://identifiers.org/mesh/C566300|https://omim.org/entry/615969|Orphanet:168612|UMLS:C1863081	ordo_biological_anomaly
HGNC:11027	biolink:NamedThing	SLC4A1			mondo.json		http://identifiers.org/hgnc/11027		
MONDO:0014423	biolink:Disease	severe combined immunodeficiency due to DNA-PKcs deficiency	Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.	SCTID:716871006|UMLS:C4014833|Orphanet:317425|OMIM:615966	mondo.json	IMD26|immunodeficiency 26 with or without neurologic abnormalities|SCID due to DNA-PKcs deficiency|immunodeficiency 26, with or without neurologic abnormalities	http://purl.obolibrary.org/obo/MONDO_0014423	UMLS:C4014833|https://omim.org/entry/615966|http://identifiers.org/snomedct/716871006|Orphanet:317425	ordo_disease
MONDO:0014422	biolink:Disease	vesicoureteral reflux 8	Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene.	OMIM:615963|UMLS:C4014831	mondo.json	vesicoureteral reflux (disease) caused by mutation in TNXB|vesicoureteral reflux type 8|VUR8|vesicoureteral reflux 8|TNXB vesicoureteral reflux (disease)	http://purl.obolibrary.org/obo/MONDO_0014422	UMLS:C4014831|https://omim.org/entry/615963	
HGNC:11025	biolink:NamedThing	SLC3A1			mondo.json		http://identifiers.org/hgnc/11025		
MONDO:0014421	biolink:Disease	glucocorticoid resistance		MESH:C564221|GARD:0002499|UMLS:C1841972|OMIM:615962|Orphanet:786	mondo.json	GCCR|cortisol resistance from glucocorticoid receptor defect|Gcr deficiency|glucocorticoid receptor deficiency|Gccr deficiency|glucocorticoid resistance, generalized|Grl deficiency	http://purl.obolibrary.org/obo/MONDO_0014421	Orphanet:786|http://identifiers.org/mesh/C564221|UMLS:C1841972|https://omim.org/entry/615962	ordo_disease|gard_rare
MONDO:0014428	biolink:Disease	autosomal recessive nonsyndromic hearing loss 102	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene.	OMIM:615974|UMLS:C3892050|DOID:0110463	mondo.json	autosomal recessive nonsyndromic deafness 102|autosomal recessive nonsyndromic deafness caused by mutation in EPS8|deafness, autosomal recessive 102|DFNB102|EPS8 autosomal recessive nonsyndromic deafness|autosomal recessive deafness 102|deafness, autosomal recessive type 102|autosomal recessive nonsyndromic deafness type 102	http://purl.obolibrary.org/obo/MONDO_0014428	DOID:0110463|https://omim.org/entry/615974|UMLS:C3892050	
MONDO:0014427	biolink:Disease	cone-rod dystrophy 20	Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene.	OMIM:615973|DOID:0111026|UMLS:C4014856	mondo.json	POC1B cone-rod dystrophy|cone-rod dystrophy type 20|cone-rod dystrophy 20|CORD20|cone-rod dystrophy caused by mutation in POC1B	http://purl.obolibrary.org/obo/MONDO_0014427	DOID:0111026|UMLS:C4014856|https://omim.org/entry/615973	
MONDO:0014426	biolink:Disease	nanophthalmos 4	Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene.	OMIM:615972|UMLS:C4014848	mondo.json	nanophthalmia caused by mutation in TMEM98|nanophthalmos type 4|Nanophthalmia 4|NNO4|TMEM98 nanophthalmia|nanophthalmos 4	http://purl.obolibrary.org/obo/MONDO_0014426	UMLS:C4014848|https://omim.org/entry/615972	
MONDO:0014425	biolink:Disease	obsolete hereditary persistence of alpha-fetoprotein	OBSOLETE. Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy	Orphanet:168615|OMIM:615970|SCTID:716697002	mondo.json	hereditary persistence of alpha-fetoprotein|ALPHA-fetoprotein, hereditary persistence OF|HPAFP	http://purl.obolibrary.org/obo/MONDO_0014425	https://omim.org/entry/615970|Orphanet:168615|http://identifiers.org/snomedct/716697002	ordo_biological_anomaly
MONDO:0002428	biolink:Disease	protozoa infectious disease	An infection that is caused by protozoans.	MESH:D011528|DOID:2789|NCIT:C34953|ICD10CM:B50-B64	mondo.json	protozoal infection|parasitic protozoa infectious disease|Mastigophora infectious disease|sarcomastigophora infectious disease	http://purl.obolibrary.org/obo/MONDO_0002428	http://purl.bioontology.org/ontology/ICD10CM/B50-B64|NCIT:C34953|http://identifiers.org/mesh/D011528|DOID:2789	
MONDO:0014420	biolink:Disease	short stature due to primary acid-labile subunit deficiency	Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.	OMIM:615961|SCTID:721074002|UMLS:C3900122|Orphanet:140941	mondo.json	ACLSD|acid-labile subunit, deficiency of|acid-labile SUBUNIT deficiency	http://purl.obolibrary.org/obo/MONDO_0014420	https://omim.org/entry/615961|UMLS:C3900122|http://identifiers.org/snomedct/721074002|Orphanet:140941	ordo_disease
HGNC:11023	biolink:NamedThing	SLC35A3			mondo.json		http://identifiers.org/hgnc/11023		
GO:2000082	biolink:NamedThing	regulation of L-ascorbic acid biosynthetic process	Any process that modulates the frequency, rate or extent of L-ascorbic acid biosynthetic process.		mondo.json	regulation of vitamin C biosynthesis|regulation of vitamin C biosynthetic process|regulation of L-ascorbic acid anabolism|regulation of L-ascorbic acid synthesis|regulation of L-ascorbic acid formation|regulation of ascorbate biosynthesis|regulation of L-ascorbic acid biosynthesis|regulation of ascorbate biosynthetic process	http://purl.obolibrary.org/obo/GO_2000082		
MONDO:0002429	biolink:Disease	idiopathic interstitial pneumonia	A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis).	SCTID:700249006|DOID:2797|MESH:D054988|Orphanet:98300|UMLS:C2350236|NCIT:C35714	mondo.json	idiopathic fibrosing alveolitis|idiopathic interstitial pneumonitis|IIp|noninfectious pneumonia|IPF|diffuse idiopathic pulmonary fibrosis	http://purl.obolibrary.org/obo/MONDO_0002429	UMLS:C2350236|Orphanet:98300|NCIT:C35714|http://identifiers.org/mesh/D054988|DOID:2797|http://identifiers.org/snomedct/700249006	ordo_group_of_disorders|disease_grouping
HGNC:11022	biolink:NamedThing	SLC35A2			mondo.json		http://identifiers.org/hgnc/11022		
HGNC:11021	biolink:NamedThing	SLC35A1			mondo.json		http://identifiers.org/hgnc/11021		
GO:2000083	biolink:NamedThing	negative regulation of L-ascorbic acid biosynthetic process	Any process that stops, prevents, or reduces the frequency, rate or extent of L-ascorbic acid biosynthetic process.		mondo.json	negative regulation of L-ascorbic acid synthesis|negative regulation of L-ascorbic acid formation|negative regulation of L-ascorbic acid biosynthesis|negative regulation of ascorbate biosynthesis|negative regulation of ascorbate biosynthetic process|negative regulation of vitamin C biosynthesis|negative regulation of vitamin C biosynthetic process|negative regulation of L-ascorbic acid anabolism	http://purl.obolibrary.org/obo/GO_2000083		
HGNC:11020	biolink:NamedThing	SLC34A2			mondo.json		http://identifiers.org/hgnc/11020		
HGNC:13681	biolink:NamedThing	DCHS1			mondo.json		http://identifiers.org/hgnc/13681		
NCBITaxon:12542	biolink:OrganismalEntity	Omsk hemorrhagic fever virus		GC_ID:1	mondo.json	Omsk haemorrhagic fever virus|Omsk haemorrhagic fever virus OHF	http://purl.obolibrary.org/obo/NCBITaxon_12542		
MONDO:0002446	biolink:Disease	obsolete hemoglobinopathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002446		
MONDO:0002447	biolink:Disease	endometrial carcinoma	A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation.	SCTID:254878006|DOID:2871|HP:0012114|UMLS:C0206687|UMLS:C0476089|NCIT:C7558|ONCOTREE:UCEC	mondo.json	endometrial carcinoma (disease)|carcinoma, endometrial, malignant|endometrium carcinoma|carcinoma of endometrium|carcinoma of the endometrium|endometrial cancer|endometrial carcinoma	http://purl.obolibrary.org/obo/MONDO_0002447	NCIT:C7558|DOID:2871|http://identifiers.org/snomedct/254878006|UMLS:C0476089	
MONDO:0002448	biolink:Disease	laryngeal sarcoma	A rare malignant soft tissue neoplasm that arises from the larynx.	UMLS:C1334377|NCIT:C6020|DOID:2877	mondo.json	laryngeal sarcoma|sarcoma of larynx|larynx sarcoma|sarcoma of the larynx	http://purl.obolibrary.org/obo/MONDO_0002448	NCIT:C6020|DOID:2877|UMLS:C1334377	
SO:0000453	biolink:SequenceFeature	chromosomal_transposition	A chromosome structure variant whereby a region of a chromosome has been transferred to another position. Among interchromosomal rearrangements, the term transposition is reserved for that class in which the telomeres of the chromosomes involved are coupled (that is to say, form the two ends of a single DNA molecule) as in wild-type.		mondo.json	chromosomal transposition|transposition	http://purl.obolibrary.org/obo/SO_0000453		
HGNC:25676	biolink:NamedThing	GORAB			mondo.json		http://identifiers.org/hgnc/25676		
MONDO:0002449	biolink:Disease	nodular degeneration of cornea		UMLS:C0155122|ICD9:371.46|SCTID:72620002|DOID:2879	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002449	http://identifiers.org/snomedct/72620002|UMLS:C0155122|DOID:2879	
HGNC:23015	biolink:NamedThing	FAM20A			mondo.json		http://identifiers.org/hgnc/23015		
MONDO:0002442	biolink:Disease	long QT syndrome	A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome (also known as long QT syndrome 1) and Jervell-Lange Nielsen syndrome.	NCIT:C34786|UMLS:C0023976|ICD10CM:I45.81|ICD9:426.82|MESH:D008133|DOID:2843	mondo.json	long QT syndrome|long Q-T syndrome|LQT|ventricular arrhythmia associated with long QT syndrome	http://purl.obolibrary.org/obo/MONDO_0002442	NCIT:C34786|http://purl.bioontology.org/ontology/ICD10CM/I45.81|DOID:2843|UMLS:C0023976|http://identifiers.org/mesh/D008133	
MONDO:0002443	biolink:Disease	bruxism	Excessive clenching of the jaw and grinding of the teeth.	HP:0003763|DOID:2846|ICD9:327.53	mondo.json	bruxism - teeth grinding|grinding teeth|teeth grinding|bruxism|sleep related bruxism|bruxism (disease)	http://purl.obolibrary.org/obo/MONDO_0002443	DOID:2846	
UBERON:0011282	biolink:AnatomicalEntity	nail of pedal digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011282		
MONDO:0002444	biolink:Disease	melancholia	A subtype of depression characterized by the inability to find pleasure in positive things combined with physical agitation, insomnia, or decreased appetite.	DOID:2848|NCIT:C34812	mondo.json	melancholic depression|depression with melancholic features	http://purl.obolibrary.org/obo/MONDO_0002444	NCIT:C34812|DOID:2848	
MONDO:0002445	biolink:Disease	obsolete hemoglobin c disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002445		
HGNC:25671	biolink:NamedThing	RNASEH2B			mondo.json		http://identifiers.org/hgnc/25671		
MONDO:0014409	biolink:Disease	intellectual disability, autosomal recessive 44	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene.	UMLS:C4014745|OMIM:615942	mondo.json	intellectual disability, autosomal recessive type 44|intellectual disability, autosomal recessive 44|autosomal recessive non-syndromic intellectual disability caused by mutation in METTL23|mental retardation, autosomal recessive type 44|METTL23 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 44|MRT44	http://purl.obolibrary.org/obo/MONDO_0014409	UMLS:C4014745|https://omim.org/entry/615942	
MONDO:0002440	biolink:Disease	erythropoietin polycythemia	Polycythemia that is caused by excess erythropoietin.	UMLS:C0391869|DOID:2839|NCIT:C35434|SCTID:367328005	mondo.json	polycythemia, nephrogenous|secondary polycythemia with excess erythropoietin|polycythaemia due to Excess erythropoetin production|polycythemia due to excess erythopoetin production|nephrogenous polycythemia	http://purl.obolibrary.org/obo/MONDO_0002440	http://identifiers.org/snomedct/367328005|DOID:2839|NCIT:C35434|UMLS:C0391869	
MONDO:0014408	biolink:Disease	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene.	OMIM:615938|UMLS:C4014742	mondo.json	megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in CCND2|MPPH3|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 3|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3|CCND2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	http://purl.obolibrary.org/obo/MONDO_0014408	UMLS:C4014742|https://omim.org/entry/615938	
MONDO:0002441	biolink:Disease	Jervell and Lange-Nielsen syndrome	An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome.	GARD:0003048|UMLS:C0022387|SCTID:373905003|MedDRA:10057936|NCIT:C84793|OMIMPS:220400|DOID:2842|Orphanet:90647|MESH:D029593	mondo.json	Jervell and Lange-Nielsen syndrome 1|Jervell and Lange Nielsen syndrome|long QT interval-deafness syndrome|Jervell Lange-Nielsen syndrome|prolonged QT interval in EKG and sudden death|JLNS1|Jervell and Lange-Nielson syndrome|Surdo-cardiac syndrome|Cardioauditory syndrome of Jervell and Lange-Nielsen|deafness, congenital, and functional heart disease|Jervell-Lange Nielsen syndrome|Jervell and Lange-Nielsen syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0002441	http://identifiers.org/snomedct/373905003|DOID:2842|UMLS:C0022387|https://omim.org/phenotypicSeries/PS220400|http://identifiers.org/mesh/D029593|NCIT:C84793|Orphanet:90647	ordo_clinical_subtype|gard_rare|prototype_pattern
MONDO:0014407	biolink:Disease	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene.	OMIM:615937|UMLS:C4014738	mondo.json	AKT3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2|MPPH2|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2|megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in AKT3	http://purl.obolibrary.org/obo/MONDO_0014407	UMLS:C4014738|https://omim.org/entry/615937	
UBERON:0011289	biolink:AnatomicalEntity	pharyngobasilar fascia			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011289		
MONDO:0014413	biolink:Disease	orofaciodigital syndrome type 14	Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.	Orphanet:434179|SCTID:763837007|UMLS:C4014780|OMIM:615948	mondo.json	orofaciodigital syndrome type 14|orofaciodigital syndrome XIV|microcephaly-cerebral malformation-orofaciodigital syndrome|orofaciodigital syndrome 14|orofaciodigital syndrome caused by mutation in C2CD3|C2CD3 orofaciodigital syndrome|oral-facial-digital syndrome type 14|OFD14	http://purl.obolibrary.org/obo/MONDO_0014413	Orphanet:434179|UMLS:C4014780|https://omim.org/entry/615948|http://identifiers.org/snomedct/763837007	ordo_malformation_syndrome
MONDO:0014412	biolink:Disease	hyperlipoproteinemia, type 1D	Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene.	OMIM:615947|Orphanet:535458|DOID:0111420|UMLS:C4014767	mondo.json	GPIHBP1 familial hyperlipidemia|hyperlipoproteinemia, type 1D|familial hyperlipidemia caused by mutation in GPIHBP1|hyperlipoproteinemia, type ID	http://purl.obolibrary.org/obo/MONDO_0014412	DOID:0111420|UMLS:C4014767|https://omim.org/entry/615947|Orphanet:535458	ordo_etiological_subtype
HGNC:11037	biolink:NamedThing	SLC5A2			mondo.json		http://identifiers.org/hgnc/11037		
MONDO:0014411	biolink:Disease	myopia 24, autosomal dominant		UMLS:C4014762|OMIM:615946	mondo.json	MYP24|myopia 24, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0014411	UMLS:C4014762|https://omim.org/entry/615946	
HGNC:11036	biolink:NamedThing	SLC5A1			mondo.json		http://identifiers.org/hgnc/11036		
MONDO:0014410	biolink:Disease	spinocerebellar ataxia type 37	Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements.	DOID:0050984|GARD:0012368|UMLS:C3889636|SCTID:719301002|Orphanet:363710|UMLS:C4304821|OMIM:615945	mondo.json	spinocerebellar ataxia 37|spinocerebellar ataxia with altered vertical eye movements|SCA37	http://purl.obolibrary.org/obo/MONDO_0014410	Orphanet:363710|DOID:0050984|https://omim.org/entry/615945|http://identifiers.org/snomedct/719301002|UMLS:C3889636	ordo_disease
MONDO:0014417	biolink:Disease	spinocerebellar ataxia type 38	Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.	UMLS:C4014812|GARD:0012369|UMLS:C4518337|DOID:0050985|Orphanet:423296|SCTID:734021001|OMIM:615957|EFO:0009056	mondo.json	spinocerebellar ataxia type 38|SCA38|spinocerebellar ataxia 38	http://purl.obolibrary.org/obo/MONDO_0014417	Orphanet:423296|DOID:0050985|http://identifiers.org/snomedct/734021001|https://omim.org/entry/615957|UMLS:C4518337	ordo_disease
MONDO:0014416	biolink:Disease	ACTH-independent macronodular adrenal hyperplasia 2	Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene.	OMIM:615954|DOID:0111624|UMLS:C4014803	mondo.json	ARMC5 Cushing syndrome due to macronodular adrenal hyperplasia|AIMAH2|ACTH-independent macronodular adrenal hyperplasia type 2|Cushing syndrome due to macronodular adrenal hyperplasia caused by mutation in ARMC5|primary macronodular adrenal hyperplasia|ACTH-independent macronodular adrenal hyperplasia 2|ACTH-independent macronodular adrenal hyperplasia 2, autosomal dominant, somatic mutation	http://purl.obolibrary.org/obo/MONDO_0014416	DOID:0111624|UMLS:C4014803|https://omim.org/entry/615954	
MONDO:0014415	biolink:Disease	kallikrein, decreased urinary activity of		MESH:C563653|OMIM:615953	mondo.json	kallikrein, decreased urinary activity of	http://purl.obolibrary.org/obo/MONDO_0014415	https://omim.org/entry/615953|http://identifiers.org/mesh/C563653	
MONDO:0014414	biolink:Disease	STAT3-related early-onset multisystem autoimmune disease		UMLS:C4014795|OMIM:615952|Orphanet:438159	mondo.json	autoimmune disease, multisystem, infantile-onset, 1|autoimmune disease, multisystem, infantile-onset|ADMIO1|ADMIO	http://purl.obolibrary.org/obo/MONDO_0014414	UMLS:C4014795|https://omim.org/entry/615952|Orphanet:438159	ordo_disease
CHEBI:26819	biolink:ChemicalSubstance	sulfuric ester	An ester of an alcohol and sulfuric acid.		mondo.json	sulfuric acid ester|sulfate ester|sulfuric acid esters	http://purl.obolibrary.org/obo/CHEBI_26819		
NCBITaxon:2842321	biolink:OrganismalEntity	Kolmioviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2842321		
HGNC:11030	biolink:NamedThing	SLC4A4			mondo.json		http://identifiers.org/hgnc/11030		
MONDO:0002439	biolink:Disease	obsolete stress polycythemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002439		
NCBITaxon:214035	biolink:OrganismalEntity	Tunga penetrans		GC_ID:1	mondo.json	chigger|chigoe flea	http://purl.obolibrary.org/obo/NCBITaxon_214035		
SO:0000443	biolink:SequenceFeature	polymer_attribute	An attribute to describe the kind of biological sequence.		mondo.json	polymer attribute	http://purl.obolibrary.org/obo/SO_0000443		
SO:0000483	biolink:SequenceFeature	nc_primary_transcript	A primary transcript that is never translated into a protein.		mondo.json	nc primary transcript|noncoding primary transcript	http://purl.obolibrary.org/obo/SO_0000483		
MONDO:0002497	biolink:Disease	obsolete food allergy	OBSOLETE. Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food.	ICD9:995.3|MESH:D005512|EFO:1001890|DOID:3044|SCTID:414285001	mondo.json	food hypersensitivity|allergic disease from food material|food material allergic disease|allergy of food material	http://purl.obolibrary.org/obo/MONDO_0002497	DOID:3044|http://identifiers.org/snomedct/414285001|http://identifiers.org/mesh/D005512	
MONDO:0002498	biolink:Disease	obsolete glioblastoma multiforme			mondo.json	obsolete glioblastoma multiforme (disease)	http://purl.obolibrary.org/obo/MONDO_0002498		
MONDO:0002499	biolink:Disease	obsolete astrocytoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002499		
UBERON:0035240	biolink:AnatomicalEntity	posterior wall of oropharynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035240		
MONDO:0002493	biolink:Disease	prostatic acinar adenocarcinoma	An invasive adenocarcinoma of the prostate gland composed of secretory cells. It is the most common histologic type of prostate adenocarcinoma. Several morphologic variants exist, including atrophic, pseudohyperplastic, foamy gland, and oncocytic variants.	UMLS:C1332139|NCIT:C5596|DOID:3024	mondo.json	prostate acinar adenocarcinoma|acinar adenocarcinoma of prostate|acinar adenocarcinoma of the prostate|acinar prostate adenocarcinoma|prostatic acinar adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002493	UMLS:C1332139|DOID:3024|NCIT:C5596	
GO:2000027	biolink:NamedThing	regulation of animal organ morphogenesis	Any process that modulates the frequency, rate or extent of animal organ morphogenesis.		mondo.json	regulation of histogenesis and organogenesis	http://purl.obolibrary.org/obo/GO_2000027		
MONDO:0002494	biolink:Disease	substance-related disorder	A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs).	ICD10CM:F10-F19|MESH:D019966|NCIT:C92203|DOID:303	mondo.json	substance-related disorder	http://purl.obolibrary.org/obo/MONDO_0002494	DOID:303|NCIT:C92203|http://identifiers.org/mesh/D019966|http://purl.bioontology.org/ontology/ICD10CM/F10-F19	
MONDO:0002495	biolink:Disease	colon signet ring cell adenocarcinoma	An invasive adenocarcinoma of the colon characterized by the presence of malignant glandular epithelial cells which contain prominent intracytoplasmic mucin (signet ring cells). The signet ring cells constitute more than 50% of the malignant cells.	NCIT:C7967|UMLS:C1707436|DOID:3033	mondo.json	signet Ring cell colon adenocarcinoma|colon signet ring adenocarcinoma|colon signet Ring cell adenocarcinoma|colonic signet Ring adenocarcinoma|signet Ring cell adenocarcinoma of the colon|signet Ring cell adenocarcinoma of colon|colonic signet Ring cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002495	UMLS:C1707436|DOID:3033|NCIT:C7967	
CHEBI:167559	biolink:ChemicalSubstance	glycan	Any oligosaccharide, polysaccharide or their derivatives consisting of monosaccharides or monosaccharide derivatives linked by glycosidic bonds. See also http://www.ontobee.org/ontology/GNO?iri=http://purl.obolibrary.org/obo/GNO_00000001.		mondo.json	glycans	http://purl.obolibrary.org/obo/CHEBI_167559		
MONDO:0002496	biolink:Disease	submucosal invasive colon adenocarcinoma	An adenocarcinoma of the colon that has invaded into the submucosa.	NCIT:C38760|DOID:3038|UMLS:C1515024	mondo.json	submucosal invasive colon adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002496	NCIT:C38760|UMLS:C1515024|DOID:3038	
MONDO:0002490	biolink:Disease	breast sarcoma	A malignant mesenchymal neoplasm that arises from the breast. Representative examples include angiosarcoma, liposarcoma, leiomyosarcoma, rhabdomyosarcoma, and extraskeletal osteosarcoma.	NCIT:C4670|DOID:3017|SCTID:278050001|UMLS:C0349667|ONCOTREE:PBS	mondo.json	sarcoma of breast|sarcoma of the breast|PBS|breast sarcoma	http://purl.obolibrary.org/obo/MONDO_0002490	http://identifiers.org/snomedct/278050001|DOID:3017|UMLS:C0349667|NCIT:C4670	
MONDO:0002491	biolink:Disease	substance abuse	The use of a drug for a reason other than which it was intended or in a manner or in quantities other than directed.	ICD9:305.90|DOID:302|SCTID:66214007	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002491	http://identifiers.org/snomedct/66214007|DOID:302	
HGNC:25640	biolink:NamedThing	UFSP2			mondo.json		http://identifiers.org/hgnc/25640		
MONDO:0002492	biolink:Disease	acute kidney failure	Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria.	NCIT:C26808|MESH:D058186|DOID:3021|ICD10CM:N17	mondo.json	acute renal failure|kidney failure, acute|ARF|acute kidney injury|AKI	http://purl.obolibrary.org/obo/MONDO_0002492	DOID:3021|http://purl.bioontology.org/ontology/ICD10CM/N17|http://identifiers.org/mesh/D058186|NCIT:C26808	
HGNC:11005	biolink:NamedThing	SLC2A1			mondo.json		http://identifiers.org/hgnc/11005		
MONDO:0014489	biolink:Disease	limb-girdle muscular dystrophy due to POMK deficiency	Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.	UMLS:C4015184|Orphanet:445110|OMIM:616094	mondo.json	muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related|LGMD due to POMK deficiency|MDDGC12|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12	http://purl.obolibrary.org/obo/MONDO_0014489	UMLS:C4015184|https://omim.org/entry/616094|Orphanet:445110	ordo_disease
MONDO:0014488	biolink:Disease	diabetes mellitus, noninsulin-dependent, 5	Any type 2 diabetes mellitus in which the cause of the disease is a mutation in the TBC1D4 gene.	UMLS:C4015183|OMIM:616087	mondo.json	NIDDM5|diabetes mellitus, noninsulin-dependent, 5|diabetes mellitus, noninsulin-dependent, type 5|TBC1D4 type 2 diabetes mellitus|type 2 diabetes mellitus caused by mutation in TBC1D4	http://purl.obolibrary.org/obo/MONDO_0014488	UMLS:C4015183|https://omim.org/entry/616087	
MONDO:0014487	biolink:Disease	congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.	UMLS:C4015172|Orphanet:369861|OMIM:616084|DOID:0080209	mondo.json	SIFD syndrome|sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay|SIFD	http://purl.obolibrary.org/obo/MONDO_0014487	DOID:0080209|UMLS:C4015172|https://omim.org/entry/616084|Orphanet:369861	ordo_disease
HGNC:13666	biolink:NamedThing	AAAS			mondo.json		http://identifiers.org/hgnc/13666		
GO:2000026	biolink:NamedThing	regulation of multicellular organismal development	Any process that modulates the frequency, rate or extent of multicellular organismal development.		mondo.json		http://purl.obolibrary.org/obo/GO_2000026		
HGNC:11006	biolink:NamedThing	SLC2A2			mondo.json		http://identifiers.org/hgnc/11006		
MONDO:0014482	biolink:Disease	intellectual disability, autosomal dominant 29	Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene.	DOID:0070059|GARD:0013379|OMIM:616078|UMLS:C4015141	mondo.json	autosomal dominant intellectual disability 29|SETBP1-related intellectual disability|intellectual disability, autosomal dominant 29|autosomal dominant non-syndromic intellectual disability 29|intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1|mental retardation, autosomal dominant type 29|SETBP1 related developmental delay|SETBP1-related disorder|intellectual disability, autosomal dominant type 29|MRD29|SETBP1 disorder|autosomal dominant mental retardation 29|mental retardation, autosomal dominant 29|SETBP1 intellectual disability-expressive aphasia-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0014482	UMLS:C4015141|https://omim.org/entry/616078|DOID:0070059	gard_rare
MONDO:0014481	biolink:Disease	inflammatory skin and bowel disease, neonatal, 2	Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene.	OMIM:616069|UMLS:C4015130	mondo.json	inflammatory skin and bowel disease, neonatal, type 2|inflammatory skin and bowel disease, neonatal, 2|neonatal inflammatory skin and bowel disease caused by mutation in EGFR|NISBD2|EGFR neonatal inflammatory skin and bowel disease	http://purl.obolibrary.org/obo/MONDO_0014481	UMLS:C4015130|https://omim.org/entry/616069	
MONDO:0014480	biolink:Disease	46,XY sex reversal 9		UMLS:C4015129|OMIM:616067|DOID:0111770	mondo.json	46XY sex reversal 9|46,XY sex reversal 9|46,XY Sex reversal type 9|SRXY9|46,XY SEX reversal 9|46,XY Sex reversal, Zfpm2-related	http://purl.obolibrary.org/obo/MONDO_0014480	UMLS:C4015129|https://omim.org/entry/616067|DOID:0111770	
MONDO:0014486	biolink:Disease	intellectual disability, autosomal dominant 30	Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the ZMYND11 gene.	DOID:0070060|OMIM:616083|GARD:0013136|UMLS:C4015167	mondo.json	mental retardation, autosomal dominant 30|intellectual disability, autosomal dominant type 30|autosomal dominant intellectual disability 30|autosomal dominant non-syndromic intellectual disability 30|autosomal dominant mental retardation 30|intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in ZMYND11|intellectual disability, autosomal dominant 30|MRD30|mental retardation, autosomal dominant type 30|ZMYND11 intellectual disability-expressive aphasia-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0014486	UMLS:C4015167|https://omim.org/entry/616083|DOID:0070060	
MONDO:0014485	biolink:Disease	pontocerebellar hypoplasia, type 1C	Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene.	UMLS:C4015160|OMIM:616081	mondo.json	EXOSC8 pontocerebellar hypoplasia type 1|PCH1C|pontocerebellar hypoplasia type 1 caused by mutation in EXOSC8|hypomyelination with spinal muscular atrophy and cerebellar hypoplasia|pontocerebellar hypoplasia, type 1C	http://purl.obolibrary.org/obo/MONDO_0014485	UMLS:C4015160|https://omim.org/entry/616081	
MONDO:0014484	biolink:Disease	microcephaly 12, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene.	OMIM:616080|UMLS:C4015156|DOID:0070284	mondo.json	autosomal recessive primary microcephaly caused by mutation in CDK6|microcephaly 12, primary, autosomal recessive|MCPH12|CDK6 autosomal recessive primary microcephaly	http://purl.obolibrary.org/obo/MONDO_0014484	UMLS:C4015156|https://omim.org/entry/616080|DOID:0070284	
MONDO:0014483	biolink:Disease	retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies		ICD10CM:H35.5|UMLS:C4015146|OMIM:616079|Orphanet:397758	mondo.json	retinal dystrophy with inner nuclear layer and ganglion cell anomalies|RDGCA|retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities	http://purl.obolibrary.org/obo/MONDO_0014483	UMLS:C4015146|https://omim.org/entry/616079|Orphanet:397758	ordo_disease
MONDO:0014479	biolink:Disease	porokeratosis 8, disseminated superficial actinic type		OMIM:616063|UMLS:C4015128	mondo.json	POROK8|porokeratosis 8, disseminated superficial actinic type	http://purl.obolibrary.org/obo/MONDO_0014479	UMLS:C4015128|https://omim.org/entry/616063	
MONDO:0014478	biolink:Disease	mirror movements 3	Any familial congenital mirror movements in which the cause of the disease is a mutation in the DNAL4 gene.	UMLS:C4015124|OMIM:616059	mondo.json	MRMV3|familial congenital mirror movements caused by mutation in DNAL4|mirror movements 3|mirror movements type 3|DNAL4 familial congenital mirror movements	http://purl.obolibrary.org/obo/MONDO_0014478	UMLS:C4015124|https://omim.org/entry/616059	
MONDO:0014477	biolink:Disease	developmental and epileptic encephalopathy, 26	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene.	OMIM:616056|GARD:0012391|UMLS:C4015119|DOID:0080461	mondo.json	developmental and epileptic encephalopathy 26|KCNB1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 26|epileptic encephalopathy, early infantile, type 26|DEE26|EIEE26|early infantile epileptic encephalopathy caused by mutation in KCNB1|early infantile epileptic encephalopathy 26	http://purl.obolibrary.org/obo/MONDO_0014477	UMLS:C4015119|DOID:0080461|https://omim.org/entry/616056	gard_rare
MONDO:0014476	biolink:Disease	episodic ataxia type 8		UMLS:C4015108|Orphanet:401953|DOID:0050996|OMIM:616055	mondo.json	episodic ataxia with slurred speech|episodic ataxia type 8|episodic ataxia, type 8|EA8	http://purl.obolibrary.org/obo/MONDO_0014476	Orphanet:401953|UMLS:C4015108|https://omim.org/entry/616055|DOID:0050996	ordo_disease
HGNC:11013	biolink:NamedThing	SLC30A2			mondo.json		http://identifiers.org/hgnc/11013		
GO:2000035	biolink:NamedThing	regulation of stem cell division	Any process that modulates the frequency, rate or extent of stem cell division.		mondo.json	regulation of stem cell renewal	http://purl.obolibrary.org/obo/GO_2000035		
HGNC:11019	biolink:NamedThing	SLC34A1			mondo.json		http://identifiers.org/hgnc/11019		
CHEBI:73182	biolink:ChemicalSubstance	plant activator	Any compound that protects plants by activating their defence mechanisms.		mondo.json	plant activators	http://purl.obolibrary.org/obo/CHEBI_73182		
CHEBI:73181	biolink:ChemicalSubstance	EC 1.11.1.11 (L-ascorbate peroxidase) inhibitor	An  EC 1.11.1.* (peroxidases) inhibitor that inhibits the action of L-ascorbate peroxidase (EC 1.11.1.11).		mondo.json	EC 1.11.1.11 inhibitors|ascorbic acid peroxidase inhibitors|L-ascorbic acid peroxidase inhibitors|ascorbate peroxidase inhibitors|L-ascorbate peroxidase inhibitors|L-ascorbate peroxidase inhibitor|L-ascorbic acid peroxidase inhibitor|ascorbate peroxidase inhibitor|ascorbic acid peroxidase inhibitor|EC 1.11.1.11 inhibitor|L-ascorbate:hydrogen-peroxide oxidoreductase inhibitor|EC 1.11.1.11 (L-ascorbate peroxidase) inhibitors|L-ascorbate peroxidase (EC 1.11.1.11) inhibitors|L-ascorbic acid-specific peroxidase inhibitors|L-ascorbic acid-specific peroxidase inhibitor|L-ascorbate:hydrogen-peroxide oxidoreductase inhibitors|L-ascorbate peroxidase (EC 1.11.1.11) inhibitor	http://purl.obolibrary.org/obo/CHEBI_73181		
MONDO:0014471	biolink:Disease	mitochondrial proton-transporting ATP synthase complex deficiency	A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).	UMLS:C4015062|DOID:0111143|OMIMPS:604273|Orphanet:254913	mondo.json	isolated ATP synthase deficiency|isolated mitochondrial respiratory chain complex V deficiency|mitochondrial complex V (ATP synthase) deficiency	http://purl.obolibrary.org/obo/MONDO_0014471	UMLS:C4015062|https://omim.org/phenotypicSeries/PS604273|DOID:0111143|Orphanet:254913	ordo_disease
MONDO:0014470	biolink:Disease	autosomal dominant nonsyndromic hearing loss 65	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.	OMIM:616044|UMLS:C3892048|DOID:0110586	mondo.json	autosomal dominant nonsyndromic deafness caused by mutation in TBC1D24|DFNA65|deafness, autosomal dominant 65|autosomal dominant deafness 65|autosomal dominant nonsyndromic deafness 65|autosomal dominant nonsyndromic deafness type 65|deafness, autosomal dominant type 65|TBC1D24 autosomal dominant nonsyndromic deafness	http://purl.obolibrary.org/obo/MONDO_0014470	UMLS:C3892048|https://omim.org/entry/616044|DOID:0110586	
HGNC:13672	biolink:NamedThing	KLF13			mondo.json		http://identifiers.org/hgnc/13672		
MONDO:0014475	biolink:Disease	spinocerebellar ataxia type 40	Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.	UMLS:CN219009|GARD:0012371|EFO:0009057|DOID:0050986|UMLS:C4518336|Orphanet:423275|OMIM:616053|SCTID:734020000|UMLS:CN237494	mondo.json	SCA40|spinocerebellar ataxia 40|spinocerebellar ataxia type 40	http://purl.obolibrary.org/obo/MONDO_0014475	UMLS:C4518336|https://omim.org/entry/616053|Orphanet:423275|UMLS:CN237494|UMLS:CN219009|DOID:0050986|http://identifiers.org/snomedct/734020000	ordo_disease
MONDO:0014474	biolink:Disease	autosomal recessive limb-girdle muscular dystrophy type 2U	Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene.	UMLS:C4015095|Orphanet:352479|DOID:0110295|OMIM:616052	mondo.json	muscular dystrophy limb-girdle type 2U|ISPD autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7|muscular dystrophy, limb-girdle, type 2U|autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD|MDDGC7|muscular dystrophy-dystroglycanopathy (limb-girdle) type C7|LGMD2U|autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency	http://purl.obolibrary.org/obo/MONDO_0014474	Orphanet:352479|UMLS:C4015095|https://omim.org/entry/616052|DOID:0110295	ordo_disease
MONDO:0014473	biolink:Disease	microcephaly 13, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene.	UMLS:C4015080|OMIM:616051|DOID:0070283	mondo.json	autosomal recessive primary microcephaly caused by mutation in CENPE|microcephaly 13, primary, autosomal recessive|MCPH13|CENPE autosomal recessive primary microcephaly	http://purl.obolibrary.org/obo/MONDO_0014473	DOID:0070283|UMLS:C4015080|https://omim.org/entry/616051	
MONDO:0014472	biolink:Disease	periodic fever-infantile enterocolitis-autoinflammatory syndrome		Orphanet:436166|OMIM:616050|UMLS:C4015067	mondo.json	NLRC4-related MAS|autoinflammation with infantile enterocolitis|AIFEC|NLRC4-related autoinflammatory syndrome with MAS|AUTOINFLAMMATION with infantile enterocolitis|NLRC4-related autoinflammatory syndrome with macrophage activation syndrome|NLRC4-related infantile enterocolitis-autoinflammatory syndrome|NLRC4-related macrophage activation syndrome	http://purl.obolibrary.org/obo/MONDO_0014472	UMLS:C4015067|Orphanet:436166|https://omim.org/entry/616050	ordo_disease
MONDO:0002479	biolink:Disease	Sertoli-Leydig cell tumor	A sex cord-gonadal stromal tumor consists of leydig cells; sertoli cells; and fibroblasts in varying proportions and degree of differentiation. Most such tumors produce androgens in the Leydig cells, formerly known as androblastoma or arrhenoblastoma. Androblastomas occur in the testis or the ovary causing precocious masculinization in the males, and defeminization, or virilization (virilism) in the females. In some cases, the Sertoli cells produce estrogens.	UMLS:C0206723|ONCOTREE:SLCT|MESH:D018310|DOID:2997|GARD:0009967	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002479	http://identifiers.org/mesh/D018310|DOID:2997|UMLS:C0206723	
MONDO:0002475	biolink:Disease	lacrimal gland adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the lacrimal gland	DOID:298|UMLS:C0346341|NCIT:C4541|SCTID:254988008	mondo.json	lacrimal gland adenocarcinoma|adenocarcinoma of the lacrimal gland|adenocarcinoma of lacrimal gland	http://purl.obolibrary.org/obo/MONDO_0002475	http://identifiers.org/snomedct/254988008|NCIT:C4541|UMLS:C0346341|DOID:298	
MONDO:0002476	biolink:Disease	anuria	Absence of urine output.	MESH:D001002|UMLS:C0003460|DOID:2983	mondo.json	suppression of urinary secretion	http://purl.obolibrary.org/obo/MONDO_0002476	DOID:2983|UMLS:C0003460|http://identifiers.org/mesh/D001002	
MONDO:0002477	biolink:Disease	prostate neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas.	NCIT:C5545|ONCOTREE:PRNE|UMLS:C1335515|DOID:2992	mondo.json	prostate gland NET|neuroendocrine neoplasm of prostate|neuroendocrine neoplasm of the prostate|prostate gland neuroendocrine tumor|neuroendocrine neoplasm of prostate gland|neuroendocrine tumor of the prostate|prostate neuroendocrine neoplasm|prostate neuroendocrine carcinoma|prostate gland neuroendocrine neoplasm|prostate gland neuroendocrine tumor, well differentiated, low or intermediate grade	http://purl.obolibrary.org/obo/MONDO_0002477	NCIT:C5545|DOID:2992|UMLS:C1335515	
MONDO:0002478	biolink:Disease	mixed germ cell-sex cord-stromal tumor	A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable.	NCIT:C5241|DOID:2996|UMLS:C1321220	mondo.json	mixed germ cell-Sex cord-stromal tumor|mixed germ cell-sex cord-stromal tumor (morphologic abnormality)|mixed germ cell-Sex cord-stromal neoplasm|mixed germ cell-Sex cord neoplasm|mixed germ cell-Sex cord tumor	http://purl.obolibrary.org/obo/MONDO_0002478	NCIT:C5241|DOID:2996|UMLS:C1321220	
MONDO:0002471	biolink:Disease	bursitis	Inflammation or irritation of a synovial bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin.	SCTID:84017003|UMLS:C0006444|MESH:D002062|DOID:2965|ICD9:727.3|NCIT:C94407	mondo.json	capsulitis|Capsulitides|adhesive capsulitis, shoulder|adhesive Capsulitides, shoulder|shoulder adhesive capsulitis|adhesive capsulitis|Bursitides|shoulder adhesive Capsulitides|adhesive Capsulitides|shoulders, frozen|capsulitis, adhesive|Capsulitides, adhesive|Capsulitides, shoulder adhesive|shoulder, frozen|capsulitis, shoulder adhesive|frozen shoulders|frozen shoulder|synovial bursa inflammation|adhesive capsulitis of the shoulder|inflammation of synovial bursa	http://purl.obolibrary.org/obo/MONDO_0002471	http://identifiers.org/mesh/D002062|NCIT:C94407|http://identifiers.org/snomedct/84017003|UMLS:C0006444|DOID:2965	
MONDO:0002472	biolink:Disease	carcinoma ex pleomorphic adenoma	A carcinoma arising in a pre-existing pleomorphic adenoma. It most often occurs in the parotid gland and less often in the submandibular gland and minor salivary gland. Patients usually present with a history of a long-standing mass which recently had undergone rapid growth. The prognosis depends on the invasiveness of the malignant component. Patients with non-invasive or minimally invasive tumors usually have a good prognosis following surgical resection. Invasive tumors are usually aggressive and are associated with recurrences and metastases.	ICDO:8941/3|UMLS:C0344460|NCIT:C4397	mondo.json	carcinoma ex pleomorphic adenoma|carcinoma ex pleomorphic adenoma (morphologic abnormality)|carcinoma in pleomorphic adenoma	http://purl.obolibrary.org/obo/MONDO_0002472	NCIT:C4397|UMLS:C0344460	
MONDO:0002473	biolink:Disease	cystic kidney disease	A congenital or acquired kidney disorder characterized by the presence of renal cysts.	DOID:2975|SCTID:722223000|UMLS:C0022679|NCIT:C34750|ICD10CM:Q61|MESH:D052177	mondo.json	cystic renal disease|kidney cyst|renal cyst	http://purl.obolibrary.org/obo/MONDO_0002473	UMLS:C0022679|DOID:2975|http://identifiers.org/snomedct/722223000|http://purl.bioontology.org/ontology/ICD10CM/Q61|NCIT:C34750|http://identifiers.org/mesh/D052177	
UBERON:0035267	biolink:AnatomicalEntity	neck of gallbladder			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035267		
MONDO:0002474	biolink:Disease	primary hyperoxaluria	A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria.	MedDRA:10020703|MESH:D006960|DOID:2977|OMIMPS:259900|SCTID:17901006|ICD9:271.8|NCIT:C123158|Orphanet:416|UMLS:C0020501	mondo.json	hyperoxaluria, primary|primary hyperoxaluria	http://purl.obolibrary.org/obo/MONDO_0002474	http://identifiers.org/mesh/D006960|DOID:2977|NCIT:C123158|https://omim.org/phenotypicSeries/PS259900|UMLS:C0020501|Orphanet:416|http://identifiers.org/snomedct/17901006	ordo_disease
MONDO:0002470	biolink:Disease	photosensitive trichothiodystrophy	A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway	NCIT:C4924|GARD:0002944|Orphanet:453|DOID:2960|UMLS:C1955934|UMLS:CN205101	mondo.json	trichothiodystrophy with congenital ichtyosis|trichothiodystrophy with congenital ichthyosis|IBIDS syndrome|Tay syndrome|Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature|sulfur-deficient brittle hair syndrome|trichothiodystrophy	http://purl.obolibrary.org/obo/MONDO_0002470	Orphanet:453|UMLS:CN205101|DOID:2960	gard_rare
MONDO:0014468	biolink:Disease	congenital myasthenic syndrome 7	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene.	OMIM:616040|DOID:0110659|UMLS:C4015038	mondo.json	myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant|CMS7|myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy|congenital myasthenic syndrome type 7|SYT2 congenital myasthenic syndrome|myasthenic syndrome, congenital, 7, presynaptic|congenital myasthenic syndrome 7 presynaptic|congenital myasthenic syndrome caused by mutation in SYT2	http://purl.obolibrary.org/obo/MONDO_0014468	UMLS:C4015038|https://omim.org/entry/616040|DOID:0110659	
MONDO:0014467	biolink:Disease	Charcot-Marie-Tooth disease recessive intermediate D	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene.	OMIM:616039|DOID:0110203|UMLS:C4015029|Orphanet:435998	mondo.json	Charcot-Marie-Tooth disease, recessive intermediate D|CMTRID|RI-CMT type D|Charcot-Marie-Tooth disease recessive intermediate type D|autosomal recessive intermediate Charcot-Marie-Tooth disease type D|Charcot-Marie-Tooth disease, recessive Intermediate type D|Charcot-Marie-Tooth disease caused by mutation in COX6A1|COX6A1 Charcot-Marie-Tooth disease	http://purl.obolibrary.org/obo/MONDO_0014467	UMLS:C4015029|https://omim.org/entry/616039|DOID:0110203|Orphanet:435998	ordo_disease
MONDO:0014466	biolink:Disease	Neu-Laxova syndrome 2	Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene.	Orphanet:583602|UMLS:C4015019|OMIM:616038|DOID:0080075	mondo.json	NEU-Laxova syndrome 2|Neu-Laxova syndrome 2|phosphoserine aminotransferase deficiency, prenatal form|PSAT1 Neu-Laxova syndrome|NLS2|Neu-Laxova syndrome type 2|Neu-Laxova syndrome caused by mutation in PSAT1|Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0014466	DOID:0080075|UMLS:C4015019|https://omim.org/entry/616038|Orphanet:583602	
MONDO:0014465	biolink:Disease	primary ciliary dyskinesia 30	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene.	UMLS:C4015016|OMIM:616037|DOID:0110624	mondo.json	ciliary dyskinesia, primary, type 30|primary ciliary dyskinesia type 30|primary ciliary dyskinesia caused by mutation in CCDC151|ciliary dyskinesia, primary, 30|primary ciliary dyskinesia 30 without situs inversus|CCDC151 primary ciliary dyskinesia|ciliary dyskinesia, primary, 30, with or without situs inversus|CILD30	http://purl.obolibrary.org/obo/MONDO_0014465	UMLS:C4015016|https://omim.org/entry/616037|DOID:0110624	
MONDO:0014469	biolink:Disease	autosomal recessive nonsyndromic hearing loss 103	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene.	DOID:0110464|UMLS:C4015050|OMIM:616042	mondo.json	autosomal recessive nonsyndromic deafness 103|autosomal recessive nonsyndromic deafness caused by mutation in CLIC5|autosomal recessive deafness 103|DFNB103|deafness, autosomal recessive 103|autosomal recessive nonsyndromic deafness type 103|CLIC5 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 103	http://purl.obolibrary.org/obo/MONDO_0014469	UMLS:C4015050|https://omim.org/entry/616042|DOID:0110464	
MONDO:0014460	biolink:Disease	nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome	Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.	Orphanet:423454|UMLS:C4014987|OMIM:616029	mondo.json	short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome|ectodermal dysplasia/short stature syndrome|ectodermal dysplasia-short stature syndrome|ECTDS	http://purl.obolibrary.org/obo/MONDO_0014460	https://omim.org/entry/616029|Orphanet:423454|UMLS:C4014987	ordo_disease
MONDO:0014464	biolink:Disease	progressive encephalopathy with leukodystrophy due to DECR deficiency	Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.	OMIM:616034|UMLS:C1857252|MESH:C565624|GARD:0010327|Orphanet:431361	mondo.json	2,4-dienoyl-CoA reductase deficiency|2,4-alpha dienoyl-CoA reductase deficiency|DECR deficiency with hyperlysinemia|DECRD|dienoyl-CoA reductase deficiency|progressive encephalopathy with leukodystrophy due to DECR deficiency	http://purl.obolibrary.org/obo/MONDO_0014464	Orphanet:431361|UMLS:C1857252|https://omim.org/entry/616034|http://identifiers.org/mesh/C565624	ordo_disease
MONDO:0014463	biolink:Disease	obsolete microcephaly, short stature, and impaired glucose metabolism			mondo.json		http://purl.obolibrary.org/obo/MONDO_0014463		
MONDO:0014462	biolink:Disease	focal segmental glomerulosclerosis 8	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene.	DOID:0111133|OMIM:616032|UMLS:C4014993	mondo.json	glomerulosclerosis, focal segmental, 8|focal segmental glomerulosclerosis 8|FSGS8|focal segmental glomerulosclerosis type 8|focal segmental glomerulosclerosis caused by mutation in ANLN|ANLN focal segmental glomerulosclerosis	http://purl.obolibrary.org/obo/MONDO_0014462	https://omim.org/entry/616032|DOID:0111133|UMLS:C4014993	
MONDO:0014461	biolink:Disease	hypogonadotropic hypogonadism 22 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene.	DOID:0090081|UMLS:C4014988|OMIM:616030|ICD10CM:E23.0	mondo.json	hypogonadotropic hypogonadism 22, with or without anosmia|hypogonadotropic hypogonadism 22 with or without anosmia|FEZF1 hypogonadotropic hypogonadism|HH22|hypogonadotropic hypogonadism caused by mutation in FEZF1	http://purl.obolibrary.org/obo/MONDO_0014461	https://omim.org/entry/616030|DOID:0090081|UMLS:C4014988	
MONDO:0002486	biolink:Disease	lobular neoplasia	A spectrum of non-invasive neoplastic lesions that arise from the terminal ductal lobular units of the breast. There is atypical small epithelial cell proliferation. Pagetoid involvement of the terminal ducts may or may not be present. In the minority of cases, there is a risk for subsequent development of invasive ductal or invasive lobular carcinoma.	UMLS:C0861352|NCIT:C27939|DOID:3010	mondo.json	lobular intraepithelial neoplasia|lobular neoplasia|LN|LIN	http://purl.obolibrary.org/obo/MONDO_0002486	NCIT:C27939|UMLS:C0861352|DOID:3010	
MONDO:0002487	biolink:Disease	breast granular cell tumor	A usually benign neoplasm that arises from the breast. It presents as a single, firm, and painless mass. It is characterized by the presence of neoplastic cells with eosinophilic granular cytoplasm.	UMLS:C1511312|NCIT:C40400|DOID:3011	mondo.json	breast granular cell tumor|granular cell tumor of breast	http://purl.obolibrary.org/obo/MONDO_0002487	NCIT:C40400|DOID:3011|UMLS:C1511312	
MONDO:0002488	biolink:Disease	intraductal breast neoplasm	A benign or malignant epithelial neoplasm that arises anywhere in the ductal system of the breast. This category includes intraductal papilloma, intraductal papillary carcinoma, ductal hyperplasia with or without atypia, and ductal carcinoma in situ.	UMLS:C0948967|NCIT:C36083|DOID:3013	mondo.json	intraductal breast neoplasm	http://purl.obolibrary.org/obo/MONDO_0002488	NCIT:C36083|UMLS:C0948967|DOID:3013	
MONDO:0002489	biolink:Disease	malignant breast phyllodes tumor	A phyllodes tumor of the breast characterized by infiltrative margins and a sarcomatous stromal component. The sarcomatous stroma usually displays features of fibrosarcoma. Liposarcomatous, osteosarcomatous, or rhabdomyosarcomatous elements may also be present.	ONCOTREE:MPT|EFO:0008545|DOID:3016|SCTID:254844000|NCIT:C4504	mondo.json	malignant cystosarcoma phyllodes of the breast|phyllodes breast tumor|malignant mammary phyllodes tumor|malignant breast phyllodes neoplasm|malignant cystosarcoma phyllodes|breast phyllodes tumor, malignant|breast malignant phyllodes tumor|malignant breast phyllodes tumor|malignant phyllodes neoplasm|malignant mammary phyllodes neoplasm|malignant phyllodes tumor (morphologic abnormality)|malignant phyllodes breast neoplasm|phyllodes breast neoplasm|malignant phyllodes neoplasm of breast|phyllodes tumor, malignant (morphologic abnormality)|malignant phyllodes neoplasm of the breast|malignant cystosarcoma phyllodes (morphologic abnormality)|malignant phyllodes tumor of breast|malignant cystosarcoma phyllodes of breast|malignant phyllodes tumor of the breast	http://purl.obolibrary.org/obo/MONDO_0002489	NCIT:C4504|DOID:3016|http://identifiers.org/snomedct/254844000	
MONDO:0002482	biolink:Disease	nipple neoplasm	A benign or malignant neoplasm that arises in the area of the nipple.	DOID:3003|UMLS:C1112166|NCIT:C5212	mondo.json	nipple tumor|tumor of the nipple|nipple neoplasm|neoplasm of the nipple|nipple neoplasm (disease)|tumor of nipple|neoplasm of nipple	http://purl.obolibrary.org/obo/MONDO_0002482	DOID:3003|NCIT:C5212|UMLS:C1112166	
MONDO:0002483	biolink:Disease	breast myoepithelial tumor	A benign or malignant tumor that arises from the breast and originates from or is composed of myoepithelial cells. Representative examples include adenomyoepithelioma, myoepitheliosis, and malignant myoepithelioma.	DOID:3004|NCIT:C40389|UMLS:C1511319	mondo.json	breast myoepithelial tumor|breast myoepithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0002483	NCIT:C40389|DOID:3004|UMLS:C1511319	
MONDO:0002484	biolink:Disease	obsolete breast ductal carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002484		
MONDO:0002485	biolink:Disease	breast neuroendocrine neoplasm	A neoplasm that arises from the breast and is composed of cells of neuroendocrine origin. Most cases are neuroendocrine carcinomas. Primary carcinoid tumors of the breast are very rare.	NCIT:C5169|DOID:3009|UMLS:C1332635	mondo.json	breast neuroendocrine tumor, well differentiated, low or intermediate grade|breast endocrine neoplasm|neuroendocrine neoplasm of the breast|breast neuroendocrine neoplasm|neuroendocrine tumor of the breast|breast neuroendocrine tumor|breast NET|neuroendocrine neoplasm of breast	http://purl.obolibrary.org/obo/MONDO_0002485	UMLS:C1332635|DOID:3009|NCIT:C5169	
MONDO:0002480	biolink:Disease	endometrioid tumor	A benign, borderline, or malignant epithelial tumor of the female reproductive system characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.	UMLS:C0474809|NCIT:C7113|EFO:0009118|DOID:3001	mondo.json	endometrioid neoplasm|female reproductive endometrioid neoplasm|endometrioid neoplasm of female reproductive system|female reproductive endometrioid cancer|endometrioid neoplasm of the female reproductive system|endometrioid tumor of female reproductive system|endometrioid tumor (morphologic abnormality)|endometrioid tumor of the female reproductive system|endometrioid tumor|female reproductive endometrioid tumor	http://purl.obolibrary.org/obo/MONDO_0002480	DOID:3001|NCIT:C7113|UMLS:C0474809	
MONDO:0002481	biolink:Disease	ovarian neuroendocrine neoplasm	An epithelial neoplasm with neuroendocrine differentiation that arises from the ovary. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma.	NCIT:C5237|UMLS:C1335172|DOID:3002	mondo.json	ovary NET|ovary neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of ovary|ovary neuroendocrine tumor|neuroendocrine neoplasm of the ovary|ovarian neuroendocrine neoplasm|neuroendocrine tumor of ovary|ovary neuroendocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0002481	DOID:3002|NCIT:C5237|UMLS:C1335172	
MONDO:0014457	biolink:Disease	hyperphosphatasia with intellectual disability syndrome 5	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene.	OMIM:616025|UMLS:C4014958	mondo.json	hyperphosphatasia with mental retardation syndrome 5|hyperphosphatasia with intellectual disability syndrome 5|hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGW|glycosylphosphatidylinositol biosynthesis defect 11|PIGW hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia with intellectual disability syndrome type 5|GPIBD11|HPMRS5|hyperphosphatasia with mental retardation syndrome type 5	http://purl.obolibrary.org/obo/MONDO_0014457	UMLS:C4014958|https://omim.org/entry/616025	
MONDO:0014456	biolink:Disease	autosomal recessive severe congenital neutropenia due to JAGN1 deficiency		Orphanet:423384|OMIM:616022|UMLS:C4014954	mondo.json	SCN6|neutropenia, severe congenital, 6, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0014456	UMLS:C4014954|Orphanet:423384|https://omim.org/entry/616022	ordo_disease
MONDO:0014455	biolink:Disease	cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome		Orphanet:436174|UMLS:C4014942|OMIM:616007	mondo.json	cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia|CAGSSS	http://purl.obolibrary.org/obo/MONDO_0014455	UMLS:C4014942|Orphanet:436174|https://omim.org/entry/616007	ordo_disease
MONDO:0014454	biolink:Disease	Hennekam lymphangiectasia-lymphedema syndrome 2	Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene.	UMLS:C4014939|OMIM:616006	mondo.json	FAT4 Hennekam syndrome|Hennekam lymphangiectasia-lymphedema syndrome 2|HKLLS2|Hennekam lymphangiectasia-lymphedema syndrome type 2|Hennekam syndrome caused by mutation in FAT4	http://purl.obolibrary.org/obo/MONDO_0014454	https://omim.org/entry/616006|UMLS:C4014939	
MONDO:0014459	biolink:Disease	Adams-Oliver syndrome 5	Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene.	UMLS:C4014970|OMIM:616028	mondo.json	NOTCH1 Adams-Oliver syndrome|Notch1 Adams-Oliver syndrome|AOS5|Adams-Oliver syndrome caused by mutation in Notch1|Adams-Oliver syndrome caused by mutation in NOTCH1|Adams-Oliver syndrome type 5|Adams-Oliver syndrome 5	http://purl.obolibrary.org/obo/MONDO_0014459	UMLS:C4014970|https://omim.org/entry/616028	
MONDO:0014458	biolink:Disease	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene.	OMIM:616026|UMLS:C4014962	mondo.json	fanconi renotubular syndrome 4, with maturity-onset diabetes of the young|Fanconi syndrome caused by mutation in HNF4A|FRTS4|HNF4A Fanconi syndrome|FRTS4 with MODY|Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	http://purl.obolibrary.org/obo/MONDO_0014458	UMLS:C4014962|https://omim.org/entry/616026	
MONDO:0014453	biolink:Disease	immunodeficiency 36		UMLS:C4014934|OMIM:616005	mondo.json	immunodeficiency 36|IMD36|immunodeficiency type 36	http://purl.obolibrary.org/obo/MONDO_0014453	https://omim.org/entry/616005|UMLS:C4014934	
MONDO:0014452	biolink:Disease	familial dysfibrinogenemia	Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.	Orphanet:98881|UMLS:CN207171|ICD9:286.3|UMLS:C1260903|SCTID:111589005|GARD:0002004|NCIT:C131659|OMIM:616004	mondo.json	congenital dysfibrinogenemia|dysfibrinogenemia|familial dysfibrinogenemia|dysfibrinogenemia, familial|hypodysfibrinogenemia|dysfibrinogenemia, congenital|hypodysfibrinogenemia, congenital	http://purl.obolibrary.org/obo/MONDO_0014452	UMLS:C1260903|http://identifiers.org/snomedct/111589005|https://omim.org/entry/616004|UMLS:CN207171|Orphanet:98881|NCIT:C131659	gard_rare|ordo_clinical_subtype
MONDO:0014451	biolink:Disease	focal segmental glomerulosclerosis 7	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene.	Orphanet:656|UMLS:C4014925|DOID:0111132|OMIM:616002	mondo.json	focal segmental glomerulosclerosis caused by mutation in PAX2|FSGS7|glomerulosclerosis, focal segmental, 7|focal segmental glomerulosclerosis 7|focal segmental glomerulosclerosis type 7|PAX2 focal segmental glomerulosclerosis	http://purl.obolibrary.org/obo/MONDO_0014451	DOID:0111132|https://omim.org/entry/616002|UMLS:C4014925	
MONDO:0014450	biolink:Disease	breasts and/or nipples, aplasia or hypoplasia of, 2	Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene.	OMIM:616001|UMLS:C4014918	mondo.json	PTPRF isolated congenital breast hypoplasia/aplasia|breasts and/or nipples, aplasia or hypoplasia of, 2|isolated congenital breast hypoplasia/aplasia caused by mutation in PTPRF|BNAH2|breasts and/or nipples, aplasia or hypoplasia of, type 2	http://purl.obolibrary.org/obo/MONDO_0014450	https://omim.org/entry/616001|UMLS:C4014918	
MONDO:0004911	biolink:Disease	cardiovascular syphilis	A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries.	DOID:9880|ICD9:093.89|ICD9:093.8|SCTID:83883001|ICD9:093.9|UMLS:C0039130	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004911	DOID:9880|http://identifiers.org/snomedct/83883001|UMLS:C0039130	
MONDO:0004910	biolink:Disease	mitral valve prolapse	A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia.	SCTID:8074002|MESH:D008945|NCIT:C50655|DOID:988|HP:0001634|SCTID:409712001	mondo.json	mitral leaflet syndrome|mitral valve prolapse syndrome|mitral valve prolapse|myxomatous mitral valve prolapse|mitral valve prolapse, myxomatous|mitral valve prolapse (disease)|valve, prolapse Of mitral|systolic click-murmur syndrome|floppy mitral valve|barlow's syndrome|prolapse, mitral valve	http://purl.obolibrary.org/obo/MONDO_0004910	DOID:988|NCIT:C50655|http://identifiers.org/mesh/D008945|http://identifiers.org/snomedct/409712001	
MONDO:0004913	biolink:Disease	alternating esotropia		SCTID:39837002|ICD10CM:H50.05|ICD9:378.05|UMLS:C0152205|DOID:9888	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004913	UMLS:C0152205|DOID:9888|http://identifiers.org/snomedct/39837002|http://purl.bioontology.org/ontology/ICD10CM/H50.05	
MONDO:0004912	biolink:Disease	obsolete muscular dystrophy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004912		
HGNC:25726	biolink:NamedThing	LAS1L			mondo.json		http://identifiers.org/hgnc/25726		
CHEBI:24129	biolink:ChemicalSubstance	furans	Compounds containing at least one furan ring.		mondo.json	oxacyclopenta-2,4-dienes	http://purl.obolibrary.org/obo/CHEBI_24129		
UBERON:0001549	biolink:AnatomicalEntity	dorsal metatarsal vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001549		
CL:1001428	biolink:Cell	bladder urothelial cell		KUPO:0001121	mondo.json		http://purl.obolibrary.org/obo/CL_1001428		
MONDO:0016900	biolink:Disease	obsolete partial deletion of the long arm of chromosome 1			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016900		
MONDO:0016901	biolink:Disease	partial deletion of the long arm of chromosome 2	Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	UMLS:C0795804|GARD:0003744|Orphanet:262010|MESH:C538315	mondo.json	deletion 2q|2q deletion|2q monosomy|partial monosomy of chromosome 2q|partial deletion of chromosome 2q|partial deletion of the long arm of chromosome type 2|chromosome 2q deletion|partial monosomy 2q|partial monosomy of the long arm of chromosome 2|monosomy 2q	http://purl.obolibrary.org/obo/MONDO_0016901	Orphanet:262010|http://identifiers.org/mesh/C538315|UMLS:C0795804	gard_rare|ordo_group_of_disorders|disease_grouping
MONDO:0016902	biolink:Disease	partial deletion of the long arm of chromosome 3		Orphanet:262019	mondo.json	partial monosomy of chromosome 3q|partial deletion of the long arm of chromosome type 3|partial deletion of chromosome 3q|partial monosomy of the long arm of chromosome 3	http://purl.obolibrary.org/obo/MONDO_0016902	Orphanet:262019	disease_grouping|ordo_group_of_disorders
MONDO:0016903	biolink:Disease	partial deletion of the long arm of chromosome 4	Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affectedpeople can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	Orphanet:262029|MESH:C537639|GARD:0001340	mondo.json	partial deletion of the long arm of chromosome type 4|partial monosomy of chromosome 4q|chromosome 4q deletion|partial deletion of chromosome 4q|partial monosomy of the long arm of chromosome 4|partial monosomy 4q|monosomy 4q|4q deletion|deletion 4q|4q monosomy	http://purl.obolibrary.org/obo/MONDO_0016903	Orphanet:262029|http://identifiers.org/mesh/C537639	gard_rare|disease_grouping|ordo_group_of_disorders
NCIT:C16326	biolink:NamedThing	Behavior	The actions or reactions of an object or organism, usually in relation to the environment or surrounding world of stimuli.		mondo.json	Conduct|Behavior|Behavioral|Attitude	http://purl.obolibrary.org/obo/NCIT_C16326		http://purl.obolibrary.org/obo/NCIT_C90259
UBERON:8300002	biolink:AnatomicalEntity	left forelimb			mondo.json		http://purl.obolibrary.org/obo/UBERON_8300002		
UBERON:0013525	biolink:AnatomicalEntity	stomach lumen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013525		
UBERON:8300001	biolink:AnatomicalEntity	right forelimb			mondo.json		http://purl.obolibrary.org/obo/UBERON_8300001		
UBERON:0013526	biolink:AnatomicalEntity	otocyst lumen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013526		
HGNC:13743	biolink:NamedThing	ALOXE3			mondo.json		http://identifiers.org/hgnc/13743		
UBERON:8300004	biolink:AnatomicalEntity	left hindlimb			mondo.json		http://purl.obolibrary.org/obo/UBERON_8300004		
UBERON:8300003	biolink:AnatomicalEntity	right hindlimb			mondo.json		http://purl.obolibrary.org/obo/UBERON_8300003		
MONDO:0004908	biolink:Disease	obsolete galactosemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004908		
UBERON:0001554	biolink:AnatomicalEntity	skin of hip			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001554		
MONDO:0004907	biolink:Disease	alopecia	Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions.	NCIT:C50575|ICD9:704.09|Orphanet:79364|SCTID:56317004|UMLS:C0002170|ICD9:704.00|ICD9:704.0|MESH:D000505|DOID:987	mondo.json	alopecia|hair loss|loss Of hair|alopecia areata	http://purl.obolibrary.org/obo/MONDO_0004907	Orphanet:79364|http://identifiers.org/snomedct/56317004|UMLS:C0002170|http://identifiers.org/mesh/D000505|NCIT:C50575|DOID:987	ordo_group_of_disorders|disease_grouping
UBERON:0001556	biolink:AnatomicalEntity	lower urinary tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001556		
MONDO:0004909	biolink:Disease	urethral gland abscess		DOID:9877|ICD9:597.0|SCTID:444820005	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004909	DOID:9877|http://identifiers.org/snomedct/444820005	
UBERON:0001555	biolink:AnatomicalEntity	digestive tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001555		
MONDO:0004904	biolink:Disease	toxic maculopathy		SCTID:44115007|UMLS:C0271086|ICD9:362.55|DOID:9867	mondo.json	toxic maculopathy of retina	http://purl.obolibrary.org/obo/MONDO_0004904	http://identifiers.org/snomedct/44115007|DOID:9867|UMLS:C0271086	
MONDO:0004903	biolink:Disease	deep keratitis		ICD9:370.59|UMLS:C2960633|ICD9:370.5|SCTID:445741003|DOID:9858	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004903	UMLS:C2960633|DOID:9858|http://identifiers.org/snomedct/445741003	
MONDO:0004906	biolink:Disease	obsolete hereditary fructose intolerance syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004906		
MONDO:0004905	biolink:Disease	intestinal disaccharidase deficiency	Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age.	NCIT:C34731|EFO:1000060|SCTID:22169002|DOID:9868|ICD9:271.3	mondo.json	intestinal disaccharidase deficiency and disaccharide malabsorption|intestinal disaccharide deficiency and disaccharide malabsorption	http://purl.obolibrary.org/obo/MONDO_0004905	DOID:9868|http://identifiers.org/snomedct/22169002|NCIT:C34731	
MONDO:0004922	biolink:Disease	developmental coordination disorder	A disorder characterized by an impairment in the development of an individual's motor coordination skills; this impairment in motor development is not due to a medical condition.	ICD9:315.4|DOID:9923|SCTID:27544004|NCIT:C92561|UMLS:C0520947|MESH:D019957	mondo.json	development coordination disorder|clumsy child syndrome|developmental dyspraxia	http://purl.obolibrary.org/obo/MONDO_0004922	DOID:9923|UMLS:C0520947|http://identifiers.org/snomedct/27544004|NCIT:C92561|http://identifiers.org/mesh/D019957	
MONDO:0004921	biolink:Disease	obsolete Omsk hemorrhagic fever			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004921		
MONDO:0004924	biolink:Disease	chronic canaliculitis	Chronic form of actinomycosis.	ICD9:375.41|UMLS:C0155240|SCTID:26479009|DOID:9936	mondo.json	chronic actinomycosis|actinomycosis, chronic	http://purl.obolibrary.org/obo/MONDO_0004924	DOID:9936|http://identifiers.org/snomedct/26479009|UMLS:C0155240	
HP:0008372	biolink:PhenotypicFeature	Abnormality of vitamin A metabolism		UMLS:C4024686	mondo.json		http://purl.obolibrary.org/obo/HP_0008372		
MONDO:0004923	biolink:Disease	chronic inflammation of lacrimal passage		ICD9:375.4|SCTID:267653001|DOID:9935|UMLS:C0155239	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004923	DOID:9935|UMLS:C0155239|http://identifiers.org/snomedct/267653001	
UBERON:0001536	biolink:AnatomicalEntity	left common carotid artery plus branches			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001536		
UBERON:0001535	biolink:AnatomicalEntity	vertebral artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001535		
HGNC:25737	biolink:NamedThing	NHEJ1			mondo.json		http://identifiers.org/hgnc/25737		
MONDO:0004920	biolink:Disease	hydrocele		SCTID:55434001|DOID:9912|ICD9:603.8|ICD9:603.9	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004920	DOID:9912|http://identifiers.org/snomedct/55434001	
UBERON:0013522	biolink:AnatomicalEntity	subdivision of tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013522		
UBERON:8300000	biolink:AnatomicalEntity	skin of scalp			mondo.json		http://purl.obolibrary.org/obo/UBERON_8300000		
UBERON:0013514	biolink:AnatomicalEntity	space surrounding organism			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013514		
UBERON:0013515	biolink:AnatomicalEntity	subdivision of oviduct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013515		
MONDO:0004919	biolink:Disease	infected hydrocele		SCTID:11666007|ICD10CM:N43.1|UMLS:C0156300|ICD9:603.1|DOID:9911	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004919	DOID:9911|http://identifiers.org/snomedct/11666007|http://purl.bioontology.org/ontology/ICD10CM/N43.1|UMLS:C0156300	
UBERON:0001543	biolink:AnatomicalEntity	popliteal lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001543		
UBERON:0001542	biolink:AnatomicalEntity	inguinal lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001542		
MONDO:0004918	biolink:Disease	central corneal ulcer		SCTID:7426009|UMLS:C0155069|ICD9:370.03|DOID:9910	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004918	DOID:9910|http://identifiers.org/snomedct/7426009|UMLS:C0155069	
MONDO:0004915	biolink:Disease	obsolete MONDO:0004915			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004915		
MONDO:0004914	biolink:Disease	celiac artery stenosis from compression by median arcuate ligament of diaphragm	A syndromic disease that involves the median arcuate ligament.	MESH:C566151|SCTID:9250002|DOID:9892|GARD:0012308|ICD9:447.4|OMIM:116870|UMLS:C1861783	mondo.json	median arcuate ligament syndromic disease|Harjola-Marable syndrome|syndromic disease of median arcuate ligament|Marable's syndrome|celiac access syndrome|celiac artery compression syndrome|celiac artery stenosis from compression by median arcuate ligament of diaphragm|median arcuate ligament syndrome	http://purl.obolibrary.org/obo/MONDO_0004914	DOID:9892|http://identifiers.org/snomedct/9250002|UMLS:C1861783|https://omim.org/entry/116870	
MONDO:0004917	biolink:Disease	internal hordeolum	A hordeolum that results from infection of a meibomian gland.	ICD9:373.12|SCTID:414521009|DOID:9908|UMLS:C0085690	mondo.json	tarsal gland hordeolum|infection of meibomian gland|infected cyst of meibomian gland|infected meibomian cyst|meibomian adenitis|hordeolum of tarsal gland|hordeolum internum|infected chalazion|internal hordeolum	http://purl.obolibrary.org/obo/MONDO_0004917	DOID:9908|UMLS:C0085690|http://identifiers.org/snomedct/414521009	
MONDO:0004916	biolink:Disease	obsolete MONDO:0004916			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004916		
UBERON:0001529	biolink:AnatomicalEntity	brachiocephalic artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001529		
UBERON:0001528	biolink:AnatomicalEntity	radio-ulnar joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001528		
HGNC:25705	biolink:NamedThing	KCTD17			mondo.json		http://identifiers.org/hgnc/25705		
CHEBI:26764	biolink:ChemicalSubstance	steroid hormone	Any steroid that acts as hormone.		mondo.json	Steroidhormon|hormones steroides|Steroidhormone|hormone steroide|steroid hormones|hormonas esteroideas|hormona esteroide	http://purl.obolibrary.org/obo/CHEBI_26764		
CHEBI:51721	biolink:ChemicalSubstance	alpha,beta-unsaturated ketone	A ketone of general formula R(1)R(2)C=CR(3)-C(=O)R(4) (R(4) =/= H) or R(1)C#C-C(=O)R(2) (R(2) =/= H) in which the ketonic C=O function is conjugated to an unsaturated C-C bond at the alpha,beta position.		mondo.json	alpha,beta-unsaturated ketones	http://purl.obolibrary.org/obo/CHEBI_51721		
CHEBI:26766	biolink:ChemicalSubstance	steroid lactone			mondo.json	steroid lactones	http://purl.obolibrary.org/obo/CHEBI_26766		
HP:0011996	biolink:PhenotypicFeature	Elevated coagulation factor V activity	Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex.	UMLS:C4021106	mondo.json	Plasma factor V elevated|Elevated factor V activity	http://purl.obolibrary.org/obo/HP_0011996		
OBO:exo#interacts_with	biolink:NamedThing	interacts_with			mondo.json		http://purl.obolibrary.org/obo/exo#interacts_with		
UBERON:0013510	biolink:AnatomicalEntity	lumbar vertebra pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013510		
NCBITaxon:83136	biolink:OrganismalEntity	Trombidiformes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_83136		
NCBITaxon:83137	biolink:OrganismalEntity	Sarcoptiformes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_83137		
NCBITaxon:83138	biolink:OrganismalEntity	Anystina		GC_ID:1	mondo.json	Anystides	http://purl.obolibrary.org/obo/NCBITaxon_83138		
HGNC:13723	biolink:NamedThing	CTCF			mondo.json		http://identifiers.org/hgnc/13723		
UBERON:0013507	biolink:AnatomicalEntity	thoracic vertebra cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013507		
UBERON:0013508	biolink:AnatomicalEntity	thoracic vertebra pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013508		
UBERON:0013509	biolink:AnatomicalEntity	lumbar vertebra cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013509		
UBERON:0013503	biolink:AnatomicalEntity	caudal vertebra cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013503		
UBERON:0013504	biolink:AnatomicalEntity	caudal vertebra pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013504		
UBERON:0013505	biolink:AnatomicalEntity	cervical vertebra cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013505		
UBERON:0013506	biolink:AnatomicalEntity	cervical vertebra pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013506		
UBERON:0001532	biolink:AnatomicalEntity	internal carotid artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001532		
UBERON:0001531	biolink:AnatomicalEntity	right common carotid artery plus branches			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001531		
UBERON:0001534	biolink:AnatomicalEntity	right subclavian artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001534		
UBERON:0001533	biolink:AnatomicalEntity	subclavian artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001533		
UBERON:0001530	biolink:AnatomicalEntity	common carotid artery plus branches			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001530		
MONDO:0004900	biolink:Disease	peripheral vertigo		ICD9:386.10|SCTID:50438001|UMLS:C0155501|ICD9:386.19|ICD9:386.1|DOID:9847	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004900	DOID:9847|http://identifiers.org/snomedct/50438001|UMLS:C0155501	
UBERON:0001518	biolink:AnatomicalEntity	skin of wrist			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001518		
HGNC:25712	biolink:NamedThing	PGAP1			mondo.json		http://identifiers.org/hgnc/25712		
UBERON:0001517	biolink:AnatomicalEntity	skin of elbow			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001517		
MONDO:0004902	biolink:Disease	interstitial keratitis		UMLS:C0155088|ICD9:370.50|DOID:9857	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004902	DOID:9857|UMLS:C0155088	
MONDO:0004901	biolink:Disease	lingual-facial-buccal dyskinesia	Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.	UMLS:C0152115|SCTID:49386006|ICD9:333.82|DOID:9854	mondo.json	oro-facial dyskinesia	http://purl.obolibrary.org/obo/MONDO_0004901	DOID:9854|UMLS:C0152115|http://identifiers.org/snomedct/49386006	
UBERON:0001519	biolink:AnatomicalEntity	skin of manus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001519		
UBERON:0001514	biolink:AnatomicalEntity	descending aorta			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001514		
HGNC:25716	biolink:NamedThing	COA7			mondo.json		http://identifiers.org/hgnc/25716		
UBERON:0001513	biolink:AnatomicalEntity	skin of pes			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001513		
UBERON:0001516	biolink:AnatomicalEntity	abdominal aorta			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001516		
UBERON:0001515	biolink:AnatomicalEntity	thoracic aorta			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001515		
UBERON:0013501	biolink:AnatomicalEntity	cloacal sphincter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013501		
UBERON:0013502	biolink:AnatomicalEntity	5th arch mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013502		
UBERON:0037531	biolink:AnatomicalEntity	intestinal lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0037531		
HP:0033354	biolink:PhenotypicFeature	Abnormal urine metabolite level	Any deviation from the normal amount of a metabolite in urine.		mondo.json		http://purl.obolibrary.org/obo/HP_0033354		
HP:0033353	biolink:PhenotypicFeature	Abnormal blood vessel morphology	Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein).		mondo.json		http://purl.obolibrary.org/obo/HP_0033353		
CL:1001434	biolink:Cell	olfactory bulb interneuron	A neuron residing in the olfactory bulb that serve to process and refine signals arising from olfactory sensory neurons		mondo.json		http://purl.obolibrary.org/obo/CL_1001434		
CL:1001433	biolink:Cell	epithelial cell of exocrine pancreas	An epithelial cell of the exocrine pancreas.	FMA:70986	mondo.json	exocrine pancreas cell	http://purl.obolibrary.org/obo/CL_1001433		
NCBITaxon:48796	biolink:OrganismalEntity	Setaria <nematodes>		GC_ID:1	mondo.json	Setaria	http://purl.obolibrary.org/obo/NCBITaxon_48796		
CL:1001431	biolink:Cell	kidney collecting duct principal cell		KUPO:0001128	mondo.json		http://purl.obolibrary.org/obo/CL_1001431		
CL:1001430	biolink:Cell	urethra urothelial cell		KUPO:0001124	mondo.json		http://purl.obolibrary.org/obo/CL_1001430		
NCBITaxon:48791	biolink:OrganismalEntity	Setariidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_48791		
HGNC:13733	biolink:NamedThing	CDH23			mondo.json		http://identifiers.org/hgnc/13733		
MONDO:0004955	biolink:Disease	obsolete metabolic syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004955		
NCBITaxon:131567	biolink:OrganismalEntity	cellular organisms		GC_ID:1	mondo.json	biota	http://purl.obolibrary.org/obo/NCBITaxon_131567		
MONDO:0004954	biolink:Disease	obsolete malt lymphoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004954		
MONDO:0004957	biolink:Disease	mucinous adenocarcinoma	An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland.	ICDO:8480/3|UMLS:C0334368|MESH:D002288|EFO:0000197|DOID:3030|NCIT:C26712|UMLS:C0007130|ONCOTREE:CEMU	mondo.json	mucoid adenocarcinoma|colloid carcinoma|mucin-producing adenocarcinoma (morphologic abnormality)|mucinous carcinoma|mucous adenocarcinoma|mucinuos carcinoma|mucin-producing adenocarcinoma|mucin-secreting carcinoma|mucous carcinoma|gelatinous carcinoma|gelatinous adenocarcinoma|CEMU|mucin-secreting adenocarcinoma|pseudomyxoma peritonei with unknown primary site|mucinous adenocarcinoma|adenocarcinoma, mucinous, malignant|mucoid carcinoma|colloid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004957	DOID:3030|UMLS:C0007130|NCIT:C26712|UMLS:C0334368|http://identifiers.org/mesh/D002288	
MONDO:0004956	biolink:Disease	metastatic prostate carcinoma	A carcinoma that arises from the prostate gland and has spread to other anatomic sites.	SCTID:314994000|ICD9:199.1|EFO:0000196|NCIT:C8946	mondo.json	prostate cancer metastatic|prostate carcinoma metastatic|metastatic prostate carcinoma|metastatic prostate cancer	http://purl.obolibrary.org/obo/MONDO_0004956	NCIT:C8946|http://identifiers.org/snomedct/314994000	
MONDO:0004951	biolink:Disease	susceptibility to HIV infection	The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte.	UMLS:CN282826|EFO:0000180|OMIM:609423|NCIT:C14220	mondo.json	HIV/AIDS, susceptibility to|HIV-1 disease, rapid progression of|rapid progression to AIDS from HIV1 infection|AIDS, resistance to|acquired immunodeficiency syndrome, progression to|HIV type 1, susceptibility to|HIV infection, resistance to|HIV-1 viremia, susceptibility to|AIDS, slow progression to|AIDS, progression to|HIV-1 disease, delayed progression of|human immunodeficiency virus type 1, resistance to|HIV1, resistance to|human immunodeficiency virus type 1, susceptibility to|AIDS, rapid progression to|HIV1 infection, resistance to|HIV-1, resistance to|AIDS, delayed/rapid progression to|HIV-1, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0004951	UMLS:CN282826|https://omim.org/entry/609423	predisposition
MONDO:0004950	biolink:Disease	gastric carcinoma	A carcinoma that arises from epithelial cells of the stomach.	DOID:10538|ICD9:230.2|UMLS:C0153420|NCIT:C4911|EFO:0000178|ICD9:151.3|UMLS:C0699791|DOID:5517|SCTID:187741001|SCTID:92756002	mondo.json	stomach carcinoma|cancer of fundus of stomach|fundus of stomach cancer|gastric fundus cancer|gastric (stomach) cancer|malignant fundus of stomach neoplasm|cancer of the stomach|Ca fundus - stomach|malignant neoplasm of fundus of stomach|gastric cancer|gastric cancer, NOS|gastric carcinoma|cancer of stomach|carcinoma of stomach|malignant tumor of fundus of stomach|carcinoma of the stomach|stomach cancer	http://purl.obolibrary.org/obo/MONDO_0004950	DOID:5517|UMLS:C0699791|UMLS:C0153420|DOID:10538|http://identifiers.org/snomedct/187741001|NCIT:C4911	
MONDO:0004953	biolink:Disease	invasive ductal breast carcinoma	The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas. The gross appearance is usually typical with an irregular stellate outline. Microscopically, randomly arranged epithelial elements are seen. When large sheets of malignant cells are present, necrosis may be seen. With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma. The in situ component is nearly always ductal but occasionally may be lobular or both.	ONCOTREE:IDC|EFO:0000186|NCIT:C4194|ICDO:8500/3|SCTID:408643008|DOID:3008|ICDO:8521/3|ICD9:174.8	mondo.json	infiltrating ductal carcinoma|invasive ductal carcinoma of breast|invasive ductal carcinoma of the breast|infiltrating ductal breast carcinoma|infiltrating ductal adenocarcinoma|breast invasive ductal carcinoma|ductal adenocarcinoma|infiltrating ductal carcinoma of breast|invasive ductal carcinoma|invasive ductal carcinoma, NST|invasive ductal breast carcinoma|invasive ductal adenocarcinoma|infiltrating ductal carcinoma of the breast|invasive ductal carcinoma, No specific type	http://purl.obolibrary.org/obo/MONDO_0004953	DOID:3008|NCIT:C4194|http://identifiers.org/snomedct/408643008	
CHEBI:26743	biolink:ChemicalSubstance	sphing-4-enine	A sphingenine in which the C=C double bond is located at the 4-position.		mondo.json	(2S,3R)-2-aminooctadec-4-ene-1,3-diol|sphing-4-enine|4-sphingenine	http://purl.obolibrary.org/obo/CHEBI_26743		
MONDO:0004952	biolink:Disease	Hodgkins lymphoma	Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes.	ICD9:201.2|ONCOTREE:HL|ICD9:201.1|ICD9:201.90|ICDO:9650/3|ICD9:201|DOID:8567|EFO:0000183|ICD9:201.0|MESH:D006689|ICD9:201.9|Orphanet:98293|NCIT:C9357|GARD:0002714	mondo.json	stage II subdiaphragmatic Hodgkin lymphoma|Hodgkin's lymphoma|HL|Hodgkin lymphoma|Hodgkins lymphoma|Hodgkin's sarcoma|Hodgkin disease|lymphoma, Hodgkin's|Hodgkin's disease|stage I subdiaphragmatic Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0004952	Orphanet:98293|NCIT:C9357|http://identifiers.org/mesh/D006689|DOID:8567	disease_grouping|ordo_group_of_disorders
MONDO:0016937	biolink:Disease	partial duplication of chromosome 19		Orphanet:262687|SCTID:726358004	mondo.json	partial trisomy of chromosome 19|partial duplication of chromosome type 19	http://purl.obolibrary.org/obo/MONDO_0016937	Orphanet:262687|http://identifiers.org/snomedct/726358004	disease_grouping|ordo_group_of_disorders
MONDO:0016938	biolink:Disease	partial trisomy of chromosome 20		SCTID:726360002|Orphanet:262692|UMLS:C4518509	mondo.json	partial duplication of chromosome 20|partial trisomy of chromosome type 20	http://purl.obolibrary.org/obo/MONDO_0016938	http://identifiers.org/snomedct/726360002|Orphanet:262692|UMLS:C4518509	ordo_group_of_disorders|disease_grouping
MONDO:0016939	biolink:Disease	partial duplication of the short arm of chromosome 2	Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	Orphanet:262698|MESH:C538318|GARD:0005337|UMLS:C0795803	mondo.json	partial duplication of chromosome 2p|partial duplication of the short arm of chromosome type 2|2p duplication|trisomy 2p|partial trisomy 2p|partial trisomy of chromosome 2p|chromosome 2p duplication|2p trisomy|Duplication 2p	http://purl.obolibrary.org/obo/MONDO_0016939	Orphanet:262698|http://identifiers.org/mesh/C538318|UMLS:C0795803	gard_rare|disease_grouping|ordo_group_of_disorders
MONDO:0016944	biolink:Disease	partial duplication of the short arm of chromosome 7	Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	Orphanet:262749|GARD:0005355|MESH:C537819|UMLS:C0795820	mondo.json	partial trisomy 7p|chromosome 7p duplication|partial duplication of chromosome 7p|7p trisomy|Duplication 7p|partial trisomy of the short arm of chromosome 7|partial trisomy of chromosome 7p|7p duplication|partial duplication of the short arm of chromosome type 7|trisomy 7p	http://purl.obolibrary.org/obo/MONDO_0016944	UMLS:C0795820|http://identifiers.org/mesh/C537819|Orphanet:262749	disease_grouping|ordo_group_of_disorders|gard_rare
MONDO:0016945	biolink:Disease	partial duplication of the short arm of chromosome 8	Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 8p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	Orphanet:262758|GARD:0005361	mondo.json	chromosome 8p duplication|8p trisomy|Duplication 8p|partial duplication of chromosome 8p|8p duplication|trisomy 8p|partial trisomy of the short arm of chromosome 8|partial duplication of the short arm of chromosome type 8|partial trisomy 8p|partial trisomy of chromosome 8p	http://purl.obolibrary.org/obo/MONDO_0016945	Orphanet:262758	disease_grouping|ordo_group_of_disorders|gard_rare
MONDO:0016946	biolink:Disease	obsolete partial trisomy of the short arm of chromosome 9			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016946		
UBERON:0001592	biolink:AnatomicalEntity	bronchial vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001592		
MONDO:0016947	biolink:Disease	partial duplication of the short arm of chromosome 10		Orphanet:262776	mondo.json	partial trisomy of chromosome 10p|partial trisomy of the short arm of chromosome 10|partial duplication of chromosome 10p	http://purl.obolibrary.org/obo/MONDO_0016947	Orphanet:262776	disease_grouping|ordo_group_of_disorders
UBERON:0001591	biolink:AnatomicalEntity	thymic vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001591		
MONDO:0016940	biolink:Disease	partial duplication of the short arm of chromosome 3	Chromosome 3p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3p duplication can be de novo or inherited from a parent with a balanced translocation. Treatment is based on the signs and symptoms present in each person.	MESH:C536811|Orphanet:262707|GARD:0005343	mondo.json	partial trisomy of the short arm of chromosome 3|3p trisomy|partial duplication of the short arm of chromosome type 3|Duplication 3p|partial duplication of chromosome 3p|3p duplication|trisomy 3p|partial trisomy 3p|partial trisomy of chromosome 3p|chromosome 3p duplication	http://purl.obolibrary.org/obo/MONDO_0016940	http://identifiers.org/mesh/C536811|Orphanet:262707	gard_rare|ordo_group_of_disorders|disease_grouping
MONDO:0016941	biolink:Disease	partial duplication of the short arm of chromosome 4		Orphanet:262716	mondo.json	partial duplication of the short arm of chromosome type 4|partial duplication of chromosome 4p|partial trisomy of chromosome 4p|partial trisomy of the short arm of chromosome 4	http://purl.obolibrary.org/obo/MONDO_0016941	Orphanet:262716	ordo_group_of_disorders|disease_grouping
MONDO:0016942	biolink:Disease	partial trisomy/tetrasomy of the short arm of chromosome 5		Orphanet:262725	mondo.json	partial trisomy/tetrasomy of chromosome 5p|partial duplication/triplication of chromosome 5p|partial duplication/triplication of the short arm of chromosome 5|partial trisomy/tetrasomy of the short arm of chromosome type 5	http://purl.obolibrary.org/obo/MONDO_0016942	Orphanet:262725	ordo_group_of_disorders|disease_grouping
MONDO:0016943	biolink:Disease	partial duplication of the short arm of chromosome 6	Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from aparent who is either mildy affected (has the deletion) or carries a balanced translocation. Treatment is based on the signs and symptoms present in each person.	Orphanet:262740|UMLS:CN036641|MESH:C537811|GARD:0005352	mondo.json	chromosome 6p duplication|partial trisomy of chromosome 6p|partial trisomy of the short arm of chromosome 6|6p trisomy|partial duplication of the short arm of chromosome type 6|Duplication 6p|6p duplication|trisomy 6p|partial trisomy 6p|partial duplication of chromosome 6p	http://purl.obolibrary.org/obo/MONDO_0016943	http://identifiers.org/mesh/C537811|UMLS:CN036641|Orphanet:262740	disease_grouping|ordo_group_of_disorders|gard_rare
MONDO:0004948	biolink:Disease	B-cell chronic lymphocytic leukemia	B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma, and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia. The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.	NCIT:C3163|UMLS:C0855095|Orphanet:67038|UMLS:C0023434|MedDRA:10008958|MESH:D015451|ICD9:204.1|OMIM:151400|GARD:0006104|DOID:1040|EFO:0000095	mondo.json	B cell chronic lymphocytic leukemia|chronic lymphocytic leukemia|leukemia, chronic lymphatic|chronic B-cell lymphocytic leukemia|small lymphocytic lymphoma|chronic lymphocytic leukemia (CLL)|lymphoplasmacytic leukemia|B-cell chronic lymphocytic leukemia|B cell CLL|leukemia, lymphocytic, chronic|B-cell lymphocytic leukemia|chronic lymphogenous leukemia|BCLL|B-cell CLL|B-cell chronic lymphoid leukemia|B-cell chronic lymphogenous leukemia|B cell lymphocytic leukemia|leukemia, chronic LYMPHOCYTIC|CLL|chronic lymphatic leukemia|B-CLL|hematopoeitic - chronic lymphocytic leukemia (CLL)	http://purl.obolibrary.org/obo/MONDO_0004948	http://identifiers.org/mesh/D015451|UMLS:C0855095|https://omim.org/entry/151400|Orphanet:67038|UMLS:C0023434|DOID:1040|NCIT:C3163	ordo_disease
MONDO:0004947	biolink:Disease	B-cell acute lymphoblastic leukemia	A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called B acute lymphoblastic leukemia. When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001)	SCTID:277571004|NCIT:C8936|DOID:7061|DOID:0080630|EFO:0000094	mondo.json	precursor B lymphoblastic leukemia/lymphoma|precursor B-lymphoblastic lymphoma/leukemia|precursor B lymphoblastic lymphoma/leukemia|B lymphoblastic leukemia/lymphoma	http://purl.obolibrary.org/obo/MONDO_0004947	DOID:0080630|http://identifiers.org/snomedct/277571004|NCIT:C8936	
UBERON:0001593	biolink:AnatomicalEntity	venous plexus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001593		
HP:0008398	biolink:PhenotypicFeature	Hypoplastic fifth fingernail	A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger.	UMLS:C4024682	mondo.json	Underdeveloped fifth fingernail|Underdeveloped fingernail of pinkie finger|Underdeveloped fingernail of little finger|Underdeveloped fingernail of pinky finger	http://purl.obolibrary.org/obo/HP_0008398		
MONDO:0004949	biolink:Disease	neoplasm of mature B-cells	A neoplasm of follicle centre B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001).	EFO:0000096|DOID:706|SCTID:269476000|NCIT:C3457|ONCOTREE:MBN|NCIT:C27910|ICD9:202.0|UMLS:C1334633	mondo.json	mature B-cell neoplasms|mature B-cell lymphocytic neoplasm|mature B-cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0004949	UMLS:C1334633|DOID:706|http://identifiers.org/snomedct/269476000|NCIT:C27910	
MONDO:0004966	biolink:Disease	gastritis	Inflammation of the stomach.	UMLS:C0267112|MESH:D005756|SCTID:4556007|ICD9:535.40|DOID:4029|UMLS:C2243090|ICD9:535.01|ICD9:535.00|ICD9:535.4|UMLS:C0017152|NCIT:C26780|EFO:0000217|ICD9:535.41|ICD9:535.0|UMLS:C2243088|HP:0005263|UMLS:C3854048	mondo.json	acute gastric mucosal erosion|inflammation of stomach|gastritis|erosive gastropathy|erosive gastritis|stomach inflammation|gastritis (disease)	http://purl.obolibrary.org/obo/MONDO_0004966	DOID:4029|http://identifiers.org/snomedct/4556007|UMLS:C3854048|UMLS:C0017152|http://identifiers.org/mesh/D005756|NCIT:C26780|UMLS:C0267112|UMLS:C2243088|UMLS:C2243090	
MONDO:0002303	biolink:Disease	central retinal vein occlusion	Blockage of the central retinal vein.	UMLS:C0154841|DOID:2450|SCTID:68478007|NCIT:C118859|ICD9:362.35|Orphanet:411527	mondo.json	central retinal vein retinal vein occlusion|central retinal Venous occlusion|retinal vein occlusion of central retinal vein	http://purl.obolibrary.org/obo/MONDO_0002303	NCIT:C118859|http://identifiers.org/snomedct/68478007|Orphanet:411527|DOID:2450|UMLS:C0154841	
CHEBI:75767	biolink:ChemicalSubstance	animal metabolite	Any eukaryotic metabolite produced during a metabolic reaction in animals that include diverse creatures from sponges, insects to mammals.		mondo.json	animal metabolites	http://purl.obolibrary.org/obo/CHEBI_75767		
MONDO:0002304	biolink:Disease	protein S deficiency	Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals havean increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiencyare those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot.	UMLS:C0242666|GARD:0004524|MESH:D018455|HGNC:9456|DOID:2451|NCIT:C99026|SCTID:1563006|ICD9:289.81	mondo.json	Protein S deficiency|Protein S deficiency disease	http://purl.obolibrary.org/obo/MONDO_0002304	NCIT:C99026|DOID:2451|http://identifiers.org/mesh/D018455|http://identifiers.org/snomedct/1563006|UMLS:C0242666	gard_rare
MONDO:0004965	biolink:Disease	acinar cell carcinoma	A carcinoma that arises from epithelial cells of the acinar cell	UMLS:C0206685|ONCOTREE:ACCC|GARD:0008568|MESH:D018267|DOID:3025|NCIT:C3768|EFO:0000216|ICDO:8550/3	mondo.json	acinic cell carcinoma|carcinoma of acinar cell|acinic cell adenocarcinoma|acinic cell tumor|acinar cell carcinoma (morphologic abnormality)|acinar carcinoma|ACCC|carcinoma, acinar cell, malignant|acinar adenocarcinoma|acinar cell adenocarcinoma|acinar cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004965	DOID:3025|UMLS:C0206685|http://identifiers.org/mesh/D018267|NCIT:C3768	
CHEBI:75768	biolink:ChemicalSubstance	mammalian metabolite	Any animal metabolite produced during a metabolic reaction in mammals.		mondo.json	mammalian metabolites	http://purl.obolibrary.org/obo/CHEBI_75768		
MONDO:0004968	biolink:Disease	obsolete acute myelomonocytic leukemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004968		
MONDO:0002305	biolink:Disease	thrombophilia	A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome.	MESH:D019851|NCIT:C84479|DOID:2452|UMLS:C0398623|ICD9:286.9|Orphanet:64738|SCTID:234467004	mondo.json	excessive blood clotting|hypercoagulable|hypercoagulability|hypercoagulability state	http://purl.obolibrary.org/obo/MONDO_0002305	UMLS:C0398623|DOID:2452|http://identifiers.org/mesh/D019851|http://identifiers.org/snomedct/234467004|NCIT:C84479|Orphanet:64738	
MONDO:0004967	biolink:Disease	acute lymphoblastic leukemia	Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia.	DOID:1037|GARD:0000522|ICD9:204.9|DOID:9952|EFO:0000220|SCTID:91857003|ICD9:204.0|NCIT:C3167|Orphanet:513|HP:0006721|ICD9:204.00|ICD9:204|ICDO:9835/3	mondo.json	ALL|acute lymphocytic leukaemia|acute lymphocytic leukemia|leukemia, lymphoblastic, malignant|acute lymphoid leukemia|acute lymphoblastic leukemia (ALL)|acute lymphogenous leukemia|acute lymphoblastic leukemia|acute lymphoblastic leukemia/lymphoma|acute lymphoblastic leukemia (disease)|ALL - acute lymphocytic leukemia|precursor lymphoblastic leukemia|precursor cell lymphoblastic leukemia|precursor Lymphoblasic leukemia|lymphoblastic leukemia, acute|acute lymphocytic leukemias|lymphoblastic leukemia	http://purl.obolibrary.org/obo/MONDO_0004967	Orphanet:513|DOID:1037|http://identifiers.org/snomedct/91857003|NCIT:C3167|DOID:9952	disease_grouping|gard_rare|ordo_group_of_disorders
MONDO:0002306	biolink:Disease	angular blepharoconjunctivitis	A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area.	DOID:2455|ICD9:372.21|UMLS:C0155149|SCTID:69397000	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002306	UMLS:C0155149|DOID:2455|http://identifiers.org/snomedct/69397000	
MONDO:0004962	biolink:Disease	stage II endometrioid carcinoma	Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb). It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has spread into connective tissue of the cervix, but has not spread outside the uterus.	EFO:0000206	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004962		
MONDO:0002300	biolink:Disease	dermis tumor	A benign, intermediate, or malignant neoplasm that arises from the dermis.	UMLS:C0346041|NCIT:C4475|DOID:2438	mondo.json	dermis neoplasm|dermal tumor|neoplasm of the dermis|neoplasm of dermis|dermal neoplasm|dermis neoplasm (disease)|tumor of the dermis|dermis tumor|tumor of dermis	http://purl.obolibrary.org/obo/MONDO_0002300	DOID:2438|UMLS:C0346041|NCIT:C4475	
MONDO:0004961	biolink:Disease	stage I endometrioid carcinoma	Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix.	EFO:0000205	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004961		
UBERON:0001579	biolink:AnatomicalEntity	olfactory nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001579		
CHEBI:75769	biolink:ChemicalSubstance	B vitamin	Any member of the group of eight water-soluble vitamins originally thought to be a single compound (vitamin B) that play important roles in cell metabolism. The group comprises of vitamin B1, B2, B3, B5, B6, B7, B9, and B12 (Around 20 other compounds were once thought to be B vitamins but are no longer classified as such).		mondo.json	B vitamins|B-group vitamins|B-group vitamin|vitamin B	http://purl.obolibrary.org/obo/CHEBI_75769		
MONDO:0002301	biolink:Disease	frontal sinus squamous cell carcinoma	A squamous cell carcinoma that arises from the mucosal epithelial surface of the frontal sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.	NCIT:C6067|DOID:2441|SCTID:707356001|UMLS:C1333646	mondo.json	epidermoid carcinoma of frontal sinus|epidermoid carcinoma of the frontal sinus|squamous cell carcinoma of the frontal sinus|squamous cell carcinoma of frontal sinus|frontal sinus squamous cell carcinoma|frontal sinus epidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0002301	NCIT:C6067|http://identifiers.org/snomedct/707356001|DOID:2441|UMLS:C1333646	
MONDO:0004964	biolink:Disease	peripheral T-cell lymphoma, not otherwise specified	Aggressive nodal or extranodal mature (peripheral) T-cell lymphomas that do not belong to the better defined entities of the remainder of mature T-cell lymphomas. This category includes the following variants: lymphoepithelioid cell variant (Lennert's lymphoma), follicular variant, and T-zone variant.	EFO:0000211|ONCOTREE:PTCL|NCIT:C4340	mondo.json	PTCL|peripheral T-cell lymphoma, not otherwise specified	http://purl.obolibrary.org/obo/MONDO_0004964	NCIT:C4340	
MONDO:0004963	biolink:Disease	T-cell acute lymphoblastic leukemia	Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)	ICDO:9837/3|NCIT:C3183|SCTID:277575008|EFO:0000209|DOID:5603|DOID:0050523|HGNC:5056	mondo.json	T-cell acute lymphocytic leukemia|acute T-cell lymphoblastic leukemia|T-cell ALL|T acute lymphoblastic leukemia|T-cell type acute leukemia|acute T cell leukemia|acute T cell lymphoblastic leukemia|T-ALL|acute T-cell leukemia|acute T-cell lymphocytic leukemia|T-cell acute lymphoblastic leukemia|precursor T-lymphoblastic leukemia|acute T cell lymphocytic leukemia|precursor T-lymphoblastic leukemia (T-cell ALL)	http://purl.obolibrary.org/obo/MONDO_0004963	NCIT:C3183	
MONDO:0002302	biolink:Disease	obsolete acromegaly			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002302		
MONDO:0004960	biolink:Disease	monoclonal gammopathy	A condition characterized by the abnormal presence of monoclonal immunoglobulins in the blood or urine.	ICD10CM:D47.2|SCTID:109983007|NCIT:C35548|MESH:D010265|EFO:0000203	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004960	http://purl.bioontology.org/ontology/ICD10CM/D47.2|http://identifiers.org/mesh/D010265|http://identifiers.org/snomedct/109983007|NCIT:C35548	
HP:0200067	biolink:PhenotypicFeature	Recurrent spontaneous abortion	Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference.	UMLS:C3279439	mondo.json	Spontaneous abortion, recurrent	http://purl.obolibrary.org/obo/HP_0200067		
CHR:9606-chr20q11	biolink:NamedThing	20q11 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr20q11		
MONDO:0016926	biolink:Disease	obsolete Geleophysic dysplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016926		
MONDO:0016927	biolink:Disease	partial duplication of chromosome 6		SCTID:726345000|Orphanet:262628	mondo.json	partial duplication of chromosome type 6|partial trisomy of chromosome 6	http://purl.obolibrary.org/obo/MONDO_0016927	Orphanet:262628|http://identifiers.org/snomedct/726345000	ordo_group_of_disorders|disease_grouping
MONDO:0016928	biolink:Disease	partial duplication of chromosome 7		Orphanet:262633|SCTID:726346004	mondo.json	partial trisomy of chromosome 7|partial duplication of chromosome type 7	http://purl.obolibrary.org/obo/MONDO_0016928	Orphanet:262633|http://identifiers.org/snomedct/726346004	disease_grouping|ordo_group_of_disorders
MONDO:0016929	biolink:Disease	partial duplication of chromosome 8		MESH:C537941|SCTID:726347008|Orphanet:262638	mondo.json	partial duplication of chromosome type 8|partial trisomy of chromosome 8	http://purl.obolibrary.org/obo/MONDO_0016929	Orphanet:262638|http://identifiers.org/mesh/C537941|http://identifiers.org/snomedct/726347008	ordo_group_of_disorders|disease_grouping
MONDO:0016933	biolink:Disease	partial trisomy/tetrasomy of the short arm of chromosome 12		Orphanet:262658	mondo.json	partial trisomy/tetrasomy of chromosome 12p|partial trisomy/tetrasomy of the short arm of chromosome type 12|partial duplication/triplication of the short arm of chromosome 12|partial duplication/triplication of chromosome 12p	http://purl.obolibrary.org/obo/MONDO_0016933	Orphanet:262658	disease_grouping|ordo_group_of_disorders
MONDO:0016934	biolink:Disease	partial duplication of chromosome 16		Orphanet:262672|SCTID:726355001	mondo.json	partial trisomy of chromosome 16|partial duplication of chromosome type 16	http://purl.obolibrary.org/obo/MONDO_0016934	http://identifiers.org/snomedct/726355001|Orphanet:262672	disease_grouping|ordo_group_of_disorders
MONDO:0016935	biolink:Disease	partial duplication of chromosome 17		UMLS:C4518505|SCTID:726356000|Orphanet:262677	mondo.json	partial trisomy of chromosome 17|partial duplication of chromosome type 17	http://purl.obolibrary.org/obo/MONDO_0016935	http://identifiers.org/snomedct/726356000|UMLS:C4518505|Orphanet:262677	disease_grouping|ordo_group_of_disorders
MONDO:0016936	biolink:Disease	partial trisomy/tetrasomy of chromosome 18	A chromosomal disorder characterized by the presence of extra copy/copies of part of chromosome 18.	Orphanet:262682	mondo.json	partial duplication/triplication of chromosome 18|partial trisomy/tetrasomy of chromosome type 18	http://purl.obolibrary.org/obo/MONDO_0016936	Orphanet:262682	disease_grouping|ordo_group_of_disorders
MONDO:0016930	biolink:Disease	partial trisomy/tetrasomy of chromosome 9		Orphanet:262643	mondo.json	partial trisomy/tetrasomy of chromosome type 9|partial duplication/triplication of chromosome 9	http://purl.obolibrary.org/obo/MONDO_0016930	Orphanet:262643	disease_grouping|ordo_group_of_disorders
CHR:9606-chr20q13	biolink:NamedThing	20q13 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr20q13		
MONDO:0016931	biolink:Disease	partial duplication of chromosome 10		Orphanet:262648|SCTID:726349006	mondo.json	partial trisomy of chromosome 10	http://purl.obolibrary.org/obo/MONDO_0016931	http://identifiers.org/snomedct/726349006|Orphanet:262648	disease_grouping|ordo_group_of_disorders
MONDO:0016932	biolink:Disease	partial duplication of chromosome 11		Orphanet:262653|SCTID:726350006	mondo.json	partial duplication of chromosome type 11|partial trisomy of chromosome 11	http://purl.obolibrary.org/obo/MONDO_0016932	http://identifiers.org/snomedct/726350006|Orphanet:262653	disease_grouping|ordo_group_of_disorders
HGNC:13711	biolink:NamedThing	POF1B			mondo.json		http://identifiers.org/hgnc/13711		
UBERON:0001586	biolink:AnatomicalEntity	internal jugular vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001586		
MONDO:0004959	biolink:Disease	plasma cell neoplasm	A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance.	Orphanet:98282|UMLS:C1959632|SCTID:415111003|MESH:D054219|ICD9:238.6|NCIT:C4665|DOID:6536|EFO:0000200	mondo.json	plasma cell tumor, malignant|plasmacytic tumour|plasma cell tumor|plasma cell neoplasm|plasma cell dyscrasia|plasma cell tumour|plasmacytic tumor|plasma cell disorder|plasmacytic neoplasm	http://purl.obolibrary.org/obo/MONDO_0004959	DOID:6536|Orphanet:98282|http://identifiers.org/mesh/D054219|UMLS:C1959632|http://identifiers.org/snomedct/415111003|NCIT:C4665	disease_grouping|ordo_group_of_disorders
CHEBI:75763	biolink:ChemicalSubstance	eukaryotic metabolite	Any  metabolite produced during a metabolic reaction in eukaryotes, the taxon that include members of the fungi, plantae and animalia kingdoms.		mondo.json	eukaryotic metabolites	http://purl.obolibrary.org/obo/CHEBI_75763		
MONDO:0004958	biolink:Disease	oral cavity squamous cell carcinoma	A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status.	GARD:0007263|UMLS:C0585362|ONCOTREE:OCSC|EFO:0000199|NCIT:C4833|DOID:0050866|Orphanet:502363|SCTID:307502000	mondo.json	oral cavity squamous cell carcinoma|scc of the oral cavity|scc of the mouth|scc of oral cavity|oral cavity scc|scc of mouth|mouth scc|squamous cell carcinoma of the oral cavity|mouth squamous cell carcinoma|OCSC|squamous cell carcinoma of oral cavity|squamous cell carcinoma of the mouth|squamous cell carcinoma of mouth|oral squamous cell carcinoma|oral cavity squamous cell cancer	http://purl.obolibrary.org/obo/MONDO_0004958	UMLS:C0585362|Orphanet:502363|DOID:0050866|http://identifiers.org/snomedct/307502000|NCIT:C4833	gard_rare|ordo_disease
UBERON:0001585	biolink:AnatomicalEntity	anterior vena cava			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001585		
UBERON:0001584	biolink:AnatomicalEntity	left subclavian artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001584		
MONDO:0004933	biolink:Disease	hypoplastic left heart syndrome	Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis.	GARD:0006739|OMIMPS:241550|ICD10CM:Q23.4|DOID:9955|ICD9:746.7|UMLS:C0152101|NCIT:C98894|MESH:D018636|Orphanet:2248|SCTID:62067003|MedDRA:10021076	mondo.json	HLHS	http://purl.obolibrary.org/obo/MONDO_0004933	http://identifiers.org/snomedct/62067003|Orphanet:2248|https://omim.org/phenotypicSeries/PS241550|http://purl.bioontology.org/ontology/ICD10CM/Q23.4|http://identifiers.org/mesh/D018636|NCIT:C98894|DOID:9955|UMLS:C0152101	ordo_morphological_anomaly
MONDO:0004932	biolink:Disease	null-cell leukemia		UMLS:C0023483|DOID:9954|SCTID:277574007	mondo.json	null cell acute lymphoblastic leukemia	http://purl.obolibrary.org/obo/MONDO_0004932	http://identifiers.org/snomedct/277574007|UMLS:C0023483|DOID:9954	
MONDO:0004935	biolink:Disease	acquired carotenemia		DOID:9969|ICD9:278.3|SCTID:35487009	mondo.json	hypercarotinemia|carotenemia	http://purl.obolibrary.org/obo/MONDO_0004935	DOID:9969|http://identifiers.org/snomedct/35487009	obsoletion_candidate
MONDO:0004934	biolink:Disease	periostitis	Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed)	SCTID:41910004|DOID:9957|HP:0040165|MESH:D010522|NCIT:C13184|UMLS:C0031111	mondo.json	periosteum inflammation|periostitis|inflammation of periosteum|periostitis (disease)|periosteum	http://purl.obolibrary.org/obo/MONDO_0004934	DOID:9957|UMLS:C0031111|http://identifiers.org/snomedct/41910004|http://identifiers.org/mesh/D010522|NCIT:C13184	
UBERON:0001568	biolink:AnatomicalEntity	muscle of larynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001568		
MONDO:0004931	biolink:Disease	residual stage corticosteroid-induced glaucoma		DOID:9948|UMLS:C0339580|SCTID:193549003|ICD9:365.32	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004931	http://identifiers.org/snomedct/193549003|UMLS:C0339580|DOID:9948	
MONDO:0004930	biolink:Disease	steroid-induced glaucoma		UMLS:C0339578|SCTID:1654001|DOID:9946|ICD9:365.89|ICD9:365.3	mondo.json	corticosteroid-induced glaucoma	http://purl.obolibrary.org/obo/MONDO_0004930	UMLS:C0339578|http://identifiers.org/snomedct/1654001|DOID:9946	
MONDO:0016919	biolink:Disease	partial deletion of the long arm of chromosome 21		Orphanet:262173	mondo.json	partial deletion of the long arm of chromosome type 21|partial monosomy of the long arm of chromosome 21|partial deletion of chromosome 21q|partial monosomy of chromosome 21q	http://purl.obolibrary.org/obo/MONDO_0016919	Orphanet:262173	ordo_group_of_disorders|disease_grouping
HP:0200036	biolink:PhenotypicFeature	Skin nodule	Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.	SNOMEDCT_US:95319004|UMLS:C0037287	mondo.json	Growth of abnormal tissue on or under the skin	http://purl.obolibrary.org/obo/HP_0200036		
MONDO:0016915	biolink:Disease	partial deletion of the long arm of chromosome 17		Orphanet:262137	mondo.json	partial deletion of the long arm of chromosome type 17|partial monosomy of the long arm of chromosome 17|partial deletion of chromosome 17q|partial monosomy of chromosome 17q	http://purl.obolibrary.org/obo/MONDO_0016915	Orphanet:262137	disease_grouping|ordo_group_of_disorders
MONDO:0016916	biolink:Disease	obsolete partial deletion of the long arm of chromosome 18			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016916		
MONDO:0016917	biolink:Disease	partial deletion of the long arm of chromosome 19		Orphanet:262155	mondo.json	partial monosomy of the long arm of chromosome 19|partial deletion of chromosome 19q|partial monosomy of chromosome 19q|partial deletion of the long arm of chromosome type 19	http://purl.obolibrary.org/obo/MONDO_0016917	Orphanet:262155	disease_grouping|ordo_group_of_disorders
MONDO:0016918	biolink:Disease	partial deletion of the long arm of chromosome 20		Orphanet:262164	mondo.json	partial deletion of the long arm of chromosome type 20|partial monosomy of the long arm of chromosome 20|partial deletion of chromosome 20q|partial monosomy of chromosome 20q	http://purl.obolibrary.org/obo/MONDO_0016918	Orphanet:262164	ordo_group_of_disorders|disease_grouping
MONDO:0016922	biolink:Disease	partial duplication of chromosome 2		SCTID:726340005|Orphanet:262196	mondo.json	partial duplication of chromosome type 2|partial trisomy of chromosome 2	http://purl.obolibrary.org/obo/MONDO_0016922	http://identifiers.org/snomedct/726340005|Orphanet:262196	ordo_group_of_disorders|disease_grouping
MONDO:0016923	biolink:Disease	partial duplication of chromosome 3		SCTID:726341009|Orphanet:262201	mondo.json	partial trisomy of chromosome 3|partial duplication of chromosome type 3	http://purl.obolibrary.org/obo/MONDO_0016923	http://identifiers.org/snomedct/726341009|Orphanet:262201	disease_grouping|ordo_group_of_disorders
CHEBI:38700	biolink:ChemicalSubstance	organic sodium salt			mondo.json	organic sodium salt|organic sodium salts	http://purl.obolibrary.org/obo/CHEBI_38700		
MONDO:0016924	biolink:Disease	partial duplication of chromosome 4		SCTID:726342002|Orphanet:262206	mondo.json	partial duplication of chromosome type 4|partial trisomy of chromosome 4	http://purl.obolibrary.org/obo/MONDO_0016924	http://identifiers.org/snomedct/726342002|Orphanet:262206	disease_grouping|ordo_group_of_disorders
MONDO:0016925	biolink:Disease	partial trisomy/tetrasomy of chromosome 5		Orphanet:262211	mondo.json	partial duplication/triplication of chromosome 5|partial trisomy/tetrasomy of chromosome type 5	http://purl.obolibrary.org/obo/MONDO_0016925	Orphanet:262211	disease_grouping|ordo_group_of_disorders
GO:0048609	biolink:NamedThing	multicellular organismal reproductive process	The process, occurring above the cellular level, that is pertinent to the reproductive function of a multicellular organism. This includes the integrated processes at the level of tissues and organs.		mondo.json	reproductive process in a multicellular organism|organismal reproductive process	http://purl.obolibrary.org/obo/GO_0048609		
GO:0048608	biolink:NamedThing	reproductive structure development	The reproductive developmental process whose specific outcome is the progression of somatic structures that will be used in the process of creating new individuals from one or more parents, from their formation to the mature structures.		mondo.json		http://purl.obolibrary.org/obo/GO_0048608		
MONDO:0016920	biolink:Disease	obsolete partial deletion of the long arm of chromosome 22			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016920		
CHEBI:38702	biolink:ChemicalSubstance	inorganic sodium salt			mondo.json	inorganic sodium salts	http://purl.obolibrary.org/obo/CHEBI_38702		
MONDO:0016921	biolink:Disease	partial duplication of chromosome 1		SCTID:726338000|Orphanet:262191	mondo.json	partial duplication of chromosome type 1|partial trisomy of chromosome 1	http://purl.obolibrary.org/obo/MONDO_0016921	http://identifiers.org/snomedct/726338000|Orphanet:262191	disease_grouping|ordo_group_of_disorders
UBERON:0001576	biolink:AnatomicalEntity	intrinsic muscle of tongue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001576		
MONDO:0004929	biolink:Disease	constant exophthalmos		ICD9:376.31|UMLS:C0155267|SCTID:89907009|DOID:9945	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004929	http://identifiers.org/snomedct/89907009|DOID:9945|UMLS:C0155267	
CHEBI:75771	biolink:ChemicalSubstance	mouse metabolite	Any mammalian metabolite produced during a metabolic reaction in a mouse (Mus musculus).		mondo.json	mouse metabolites|Mus musculus metabolites|Mus musculus metabolite	http://purl.obolibrary.org/obo/CHEBI_75771		
UBERON:0001575	biolink:AnatomicalEntity	extrinsic muscle of tongue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001575		
UBERON:0001577	biolink:AnatomicalEntity	facial muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001577		
MONDO:0004926	biolink:Disease	dacryocystitis	Inflammation of the lacrimal sac.	SCTID:85777005|ICD9:375.30|MESH:D003607|DOID:9938|NCIT:C34521|UMLS:C0010930	mondo.json	lacrimal sac inflammation|Dacryoadenitides|inflammation of lacrimal sac|dacryoadenitis|Dacryocystitides	http://purl.obolibrary.org/obo/MONDO_0004926	UMLS:C0010930|http://identifiers.org/snomedct/85777005|DOID:9938|http://identifiers.org/mesh/D003607|NCIT:C34521	
UBERON:0001572	biolink:AnatomicalEntity	hyoglossus muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001572		
HP:0008373	biolink:PhenotypicFeature	Puberty and gonadal disorders		UMLS:C4024685	mondo.json	Puberty and gonadal disorders	http://purl.obolibrary.org/obo/HP_0008373		
MONDO:0004925	biolink:Disease	chronic dacryocystitis	Chronic form of dacryocystitis.	ICD9:375.42|SCTID:84627005|DOID:9937|UMLS:C0149506	mondo.json	dacryocystitis, chronic	http://purl.obolibrary.org/obo/MONDO_0004925	UMLS:C0149506|http://identifiers.org/snomedct/84627005|DOID:9937	
UBERON:0001571	biolink:AnatomicalEntity	genioglossus muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001571		
MONDO:0004928	biolink:Disease	lymph node disorder	Any disorder of the lymph nodes.	NCIT:C35346|SCTID:76616003|UMLS:C0272394|DOID:9942	mondo.json	lymph node disease|lymph node disease or disorder|disorder of lymph node|lymph node disorder|disease of lymph node|disease or disorder of lymph node	http://purl.obolibrary.org/obo/MONDO_0004928	DOID:9942|UMLS:C0272394|NCIT:C35346|http://identifiers.org/snomedct/76616003	
CHEBI:75772	biolink:ChemicalSubstance	Saccharomyces cerevisiae metabolite	Any  fungal metabolite produced during a metabolic reaction in Baker's yeast (Saccharomyces cerevisiae).		mondo.json	S. cerevisiae metabolites|S. cerevisiae metabolite|Saccharomyces cerevisiae secondary metabolites|baker's yeast metabolite|S. cerevisiae secondary metabolite|Saccharomyces cerevisiae metabolites|baker's yeast secondary metabolites|baker's yeast secondary metabolite|S. cerevisiae secondary metabolites|baker's yeast metabolites	http://purl.obolibrary.org/obo/CHEBI_75772		
MONDO:0004927	biolink:Disease	dacryocystocele	A congenital or acquired mucocele that develops in the lacrimal sac. It is usually the result of nasolacrimal duct abnormalities or obstruction.	DOID:9939|ICD9:375.43	mondo.json	lacrimal mucocele	http://purl.obolibrary.org/obo/MONDO_0004927	DOID:9939	
MONDO:0004944	biolink:Disease	neurosyphilis	Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia.	UMLS:C0027927|NCIT:C84935|GARD:0008729|ICD9:094.89|SCTID:26039008|ICD9:094|DOID:9988|ICD10CM:A52.3|ICD9:094.9|MESH:D009494	mondo.json	neurosyphilis|late neurosyphilis|tertiary neurosyphilis	http://purl.obolibrary.org/obo/MONDO_0004944	http://identifiers.org/snomedct/26039008|UMLS:C0027927|http://purl.bioontology.org/ontology/ICD10CM/A52.3|http://identifiers.org/mesh/D009494|DOID:9988|NCIT:C84935	gard_rare
MONDO:0004943	biolink:Disease	orbit sarcoma	A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas.	UMLS:C1335131|DOID:9987|NCIT:C6095|SCTID:699354006	mondo.json	orbit of skull sarcoma|sarcoma of the orbit|sarcoma of orbit|sarcoma of orbit of skull|orbital sarcoma	http://purl.obolibrary.org/obo/MONDO_0004943	NCIT:C6095|http://identifiers.org/snomedct/699354006|UMLS:C1335131|DOID:9987	
CHEBI:75787	biolink:ChemicalSubstance	prokaryotic metabolite	Any metabolite produced during a metabolic reaction in prokaryotes, the taxon that include members of domains such as the bacteria and archaea.		mondo.json	prokaryotic metabolites	http://purl.obolibrary.org/obo/CHEBI_75787		
MONDO:0004946	biolink:Disease	hypoglycemia	Abnormally low level of glucose in the blood.	NCIT:C3126|ICD9:251.2|SCTID:302866003|UMLS:C0020615|ICD9:251.1|MESH:D007003|DOID:9993	mondo.json	glucose, Low blood|low blood glucose|blood glucose, Low|hypoglycaemia	http://purl.obolibrary.org/obo/MONDO_0004946	UMLS:C0020615|http://identifiers.org/snomedct/302866003|http://identifiers.org/mesh/D007003|NCIT:C3126|DOID:9993	
MONDO:0004945	biolink:Disease	obsolete hypereosinophilic syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004945		
MONDO:0004940	biolink:Disease	acute female pelvic peritonitis		SCTID:85051008|UMLS:C0269032|DOID:9978|ICD9:614.5|ICD10CM:N73.3	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004940	http://identifiers.org/snomedct/85051008|UMLS:C0269032|DOID:9978|http://purl.bioontology.org/ontology/ICD10CM/N73.3	
UBERON:0001558	biolink:AnatomicalEntity	lower respiratory tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001558		
UBERON:0001557	biolink:AnatomicalEntity	upper respiratory tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001557		
MONDO:0004942	biolink:Disease	orbit lymphoma	A lymphoma that arises from the structures of the orbit. Representative examples include mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma.	NCIT:C6244|GARD:0009719|DOID:9986|SCTID:13048006|UMLS:C0271333|MESH:C537131	mondo.json	lymphoma of orbit|lymphoma of the orbit|orbital lymphoma|primary orbit lymphoma|primary orbital lymphoma	http://purl.obolibrary.org/obo/MONDO_0004942	http://identifiers.org/mesh/C537131|NCIT:C6244|DOID:9986|UMLS:C0271333|http://identifiers.org/snomedct/13048006	
HP:0200042	biolink:PhenotypicFeature	Skin ulcer	A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.	SNOMEDCT_US:46742003|UMLS:C0037299|MEDDRA:10040943|MSH:D012883	mondo.json	Open skin sore	http://purl.obolibrary.org/obo/HP_0200042		hposlim_core
MONDO:0004941	biolink:Disease	eosinophilia-myalgia syndrome	A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include eosinophilia, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn wd, Semin Arthritis Rheum 1997 Jun;26(6):788-93)	SCTID:95416007|DOID:998|GARD:0006345|MESH:D016603|ICD9:710.5|EFO:1001316	mondo.json	severe muscle pain and abnormally high eosinophils|EMS|syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart|L-tryptophan induced EMS|eosinophilia myalgia syndrome	http://purl.obolibrary.org/obo/MONDO_0004941	http://identifiers.org/snomedct/95416007|DOID:998|http://identifiers.org/mesh/D016603	gard_rare
MONDO:0016908	biolink:Disease	partial monosomy of the long arm of chromosome 9		Orphanet:262074	mondo.json	partial monosomy of the long arm of chromosome type 9|partial deletion of chromosome 9q|partial deletion of the long arm of chromosome 9|partial monosomy of chromosome 9q	http://purl.obolibrary.org/obo/MONDO_0016908	Orphanet:262074	ordo_group_of_disorders|disease_grouping
MONDO:0016909	biolink:Disease	partial monosomy of the long arm of chromosome 10		Orphanet:262083|UMLS:C0795839	mondo.json	partial monosomy of the long arm of chromosome type 10|partial deletion of the long arm of chromosome 10|partial deletion of chromosome 10q|partial monosomy of chromosome 10q	http://purl.obolibrary.org/obo/MONDO_0016909	Orphanet:262083|UMLS:C0795839	ordo_group_of_disorders|disease_grouping
MONDO:0016904	biolink:Disease	partial deletion of the long arm of chromosome 5		Orphanet:262038	mondo.json	partial monosomy of chromosome 5q|partial monosomy of the long arm of chromosome 5|partial deletion of chromosome 5q|partial deletion of the long arm of chromosome type 5	http://purl.obolibrary.org/obo/MONDO_0016904	Orphanet:262038	disease_grouping|ordo_group_of_disorders
MONDO:0016905	biolink:Disease	partial deletion of the long arm of chromosome 6	Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	UMLS:C0795816|GARD:0003760|MESH:C537807|Orphanet:262047	mondo.json	deletion 6q|partial monosomy of chromosome 6q|chromosome 6q deletion|partial deletion of chromosome 6q|6q deletion|partial deletion of the long arm of chromosome type 6|partial monosomy 6q|monosomy 6q|6q monosomy|partial monosomy of the long arm of chromosome 6	http://purl.obolibrary.org/obo/MONDO_0016905	Orphanet:262047|UMLS:C0795816|http://identifiers.org/mesh/C537807	gard_rare|disease_grouping|ordo_group_of_disorders
MONDO:0016906	biolink:Disease	partial deletion of the long arm of chromosome 7	Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	Orphanet:262056|NCIT:C36408|GARD:0003765	mondo.json	partial monosomy of chromosome 7q|7q monosomy|partial monosomy 7q|loss of chromosome 7q|partial deletion of chromosome 7q|monosomy 7q|deletion 7q|del(7q)|partial deletion of the long arm of chromosome type 7|partial monosomy of the long arm of chromosome 7|7q deletion	http://purl.obolibrary.org/obo/MONDO_0016906	Orphanet:262056	gard_rare|disease_grouping|ordo_group_of_disorders
MONDO:0016907	biolink:Disease	partial deletion of the long arm of chromosome 8	Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	GARD:0003770|MESH:C537828|UMLS:C0795828|Orphanet:262065	mondo.json	chromosome 8q deletion|deletion 8q|partial deletion of chromosome 8q|partial deletion of the long arm of chromosome type 8|8q deletion|partial monosomy of the long arm of chromosome 8|8q monosomy|partial monosomy 8q|monosomy 8q|partial monosomy of chromosome 8q	http://purl.obolibrary.org/obo/MONDO_0016907	Orphanet:262065|UMLS:C0795828|http://identifiers.org/mesh/C537828	gard_rare|ordo_group_of_disorders|disease_grouping
MONDO:0016911	biolink:Disease	partial deletion of the long arm of chromosome 13	A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 13.	NCIT:C36497|MESH:C535449|Orphanet:262101|GARD:0001738	mondo.json	partial monosomy of chromosome 13q|partial deletion of the long arm of chromosome type 13|del(13q)|partial monosomy of the long arm of chromosome 13|loss of chromosome 13q|13q deletion|deletion 13q|13q monosomy|monosomy 13q|partial deletion of chromosome 13q|chromosome 13q deletion	http://purl.obolibrary.org/obo/MONDO_0016911	http://identifiers.org/mesh/C535449|Orphanet:262101	gard_rare|disease_grouping|ordo_group_of_disorders
MONDO:0016912	biolink:Disease	partial deletion of the long arm of chromosome 14	Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14.	GARD:0003722|Orphanet:262110	mondo.json	14q deletion|partial monosomy of chromosome 14q|partial monosomy of the long arm of chromosome 14|14q monosomy|deletion 14q|monosomy 14q|chromosome 14q deletion|partial monosomy 14q|partial deletion of chromosome 14q|partial deletion of the long arm of chromosome type 14	http://purl.obolibrary.org/obo/MONDO_0016912	Orphanet:262110	gard_rare|ordo_group_of_disorders|disease_grouping
MONDO:0016913	biolink:Disease	partial deletion of the long arm of chromosome 15		GARD:0001746|MESH:C538038|Orphanet:262119	mondo.json	15q deletion|15q monosomy|partial deletion of the long arm of chromosome type 15|partial deletion of chromosome 15q|deletion 15q|partial monosomy of the long arm of chromosome 15|chromosome 15q deletion|partial monosomy of chromosome 15q|monosomy 15q|partial monosomy 15q	http://purl.obolibrary.org/obo/MONDO_0016913	http://identifiers.org/mesh/C538038|Orphanet:262119	disease_grouping|ordo_group_of_disorders
MONDO:0016914	biolink:Disease	partial deletion of the long arm of chromosome 16		Orphanet:262128	mondo.json	partial deletion of the long arm of chromosome type 16|partial deletion of chromosome 16q|partial monosomy of the long arm of chromosome 16|partial monosomy of chromosome 16q	http://purl.obolibrary.org/obo/MONDO_0016914	Orphanet:262128	disease_grouping|ordo_group_of_disorders
CHEBI:38716	biolink:ChemicalSubstance	carboxylic acid dianion	Any dianion containing at least one carboxy group.		mondo.json	carboxylic acid dianions|carboxylic acid dianion	http://purl.obolibrary.org/obo/CHEBI_38716		
MONDO:0016910	biolink:Disease	partial deletion of the long arm of chromosome 11	A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11.	UMLS:CN035778|NCIT:C37312|MESH:C538296|GARD:0001735|GTR:AN0100480|GTR:AN0100479|GTR:AN0100478|Orphanet:262092	mondo.json	partial deletion of chromosome 11q|deletion 11q|monosomy 11q partial|11q deletion|loss of chromosome 11q|del(11q)|partial monosomy of chromosome 11q|monosomy 11q|chromosome 11q partial deletion|partial monosomy 11q|11q monosomy|partial deletion of the long arm of chromosome type 11|Deletion 11q partial|partial monosomy of the long arm of chromosome 11|chromosome 11q deletion	http://purl.obolibrary.org/obo/MONDO_0016910	http://identifiers.org/mesh/C538296|Orphanet:262092|UMLS:CN035778	gard_rare|disease_grouping|ordo_group_of_disorders
UBERON:0001567	biolink:AnatomicalEntity	cheek			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001567		
MONDO:0004937	biolink:Disease	hypervitaminosis D		DOID:9971|SCTID:27712000|UMLS:C1442839|ICD10CM:E67.3|ICD9:278.4	mondo.json	hypervitaminosis type D	http://purl.obolibrary.org/obo/MONDO_0004937	DOID:9971|UMLS:C1442839|http://identifiers.org/snomedct/27712000|http://purl.bioontology.org/ontology/ICD10CM/E67.3	
CHEBI:26738	biolink:ChemicalSubstance	sphingenine	A 2-aminooctadecene-1,3-diol having (2S,3R)-configuration.		mondo.json	sphingenines	http://purl.obolibrary.org/obo/CHEBI_26738		
HGNC:8487	biolink:NamedThing	ORC1			mondo.json		http://identifiers.org/hgnc/8487		
MONDO:0004936	biolink:Disease	uterine inversion	A complication of obstetric labor in which the corpus of the uterus is forced completely or partially through the uterine cervix. This can occur during the late stages of labor and is associated with immediate postpartum hemorrhage.	EFO:1001446|MESH:D019687|ICD9:665.2|DOID:997|SCTID:27215002	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004936	http://identifiers.org/snomedct/27215002|DOID:997|http://identifiers.org/mesh/D019687	
CHEBI:26739	biolink:ChemicalSubstance	sphingolipid	Sphingolipids are a complex family of compounds that share a common structural feature, a sphingoid base backbone.		mondo.json	sphingolipids	http://purl.obolibrary.org/obo/CHEBI_26739		
CHR:9606-chr19q13	biolink:NamedThing	19q13 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr19q13		
UBERON:0001560	biolink:AnatomicalEntity	neck of organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001560		
MONDO:0004939	biolink:Disease	hallucinogen dependence	A drug dependence for a hallucinogenic substance.	ICD9:304.50|ICD9:304.5|DOID:9977|NCIT:C34657|SCTID:38247002	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004939	http://identifiers.org/snomedct/38247002|DOID:9977|NCIT:C34657	
HP:0008386	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the nails	Aplasia or developmental hypoplasia of the nail.	UMLS:C1859077	mondo.json	Nail aplasia/hypoplasia|Absent/hypoplastic nails|Absent/small nails|Absent/underdeveloped nails	http://purl.obolibrary.org/obo/HP_0008386		
MONDO:0004938	biolink:Disease	substance dependence	The psychological or physiological need to take a substance in order to experience its effects or to avoid the effects of its absence.	NCIT:C35458|ICD9:304.60|SCTID:2403008|DOID:9973	mondo.json	dependence	http://purl.obolibrary.org/obo/MONDO_0004938	DOID:9973|NCIT:C35458|http://identifiers.org/snomedct/2403008	
HP:0011927	biolink:PhenotypicFeature	Short digit	One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened.	UMLS:C1860176|UMLS:C4023124	mondo.json	Very short digits|Short digit	http://purl.obolibrary.org/obo/HP_0011927		
CHEBI:48154	biolink:ChemicalSubstance	sulfur oxide			mondo.json	Schwefeloxide|sulfur oxides|oxides of sulfur	http://purl.obolibrary.org/obo/CHEBI_48154		
NCBITaxon:1457286	biolink:OrganismalEntity	Dorylaimia		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1457286		
UBERON:0001507	biolink:AnatomicalEntity	biceps brachii			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001507		
UBERON:0001509	biolink:AnatomicalEntity	triceps brachii			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001509		
UBERON:0001508	biolink:AnatomicalEntity	arch of aorta			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001508		
HP:0011974	biolink:PhenotypicFeature	Myelofibrosis	Replacement of bone marrow by fibrous tissue.	UMLS:C0026987|SNOMEDCT_US:52967002	mondo.json		http://purl.obolibrary.org/obo/HP_0011974		
NCBITaxon:83158	biolink:OrganismalEntity	Sarcoptoidea		GC_ID:1	mondo.json	Psoroptoidea|Listrophoroidea	http://purl.obolibrary.org/obo/NCBITaxon_83158		
UBERON:0001510	biolink:AnatomicalEntity	skin of knee			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001510		
UBERON:0001512	biolink:AnatomicalEntity	skin of ankle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001512		
UBERON:0001511	biolink:AnatomicalEntity	skin of leg			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001511		
NCBITaxon:83145	biolink:OrganismalEntity	Eleutherengona		GC_ID:1	mondo.json	Eleutherengonides	http://purl.obolibrary.org/obo/NCBITaxon_83145		
HP:0011962	biolink:PhenotypicFeature	Obstructive azoospermia	Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.	UMLS:C4023106	mondo.json		http://purl.obolibrary.org/obo/HP_0011962		
NCBITaxon:83141	biolink:OrganismalEntity	Parasitengona		GC_ID:1	mondo.json	velvet mites|Parasitengonae	http://purl.obolibrary.org/obo/NCBITaxon_83141		
FOODON:03301977	biolink:NamedThing	beverage food product	A liquid prepared for consumption, or a product that can be combined with water or milk to make one.		mondo.json		http://purl.obolibrary.org/obo/FOODON_03301977		
UBERON:0001500	biolink:AnatomicalEntity	muscle of manus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001500		
HP:0008321	biolink:PhenotypicFeature	Reduced factor X activity	Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa).	SNOMEDCT_US:76642003|UMLS:C4024702|MSH:D005171|UMLS:C0015519	mondo.json	Decreased factor x activity|Factor X deficiency	http://purl.obolibrary.org/obo/HP_0008321		
NCIT:R163	biolink:NamedThing	Procedure_Has_Target_Anatomy			mondo.json		http://purl.obolibrary.org/obo/NCIT_R163		
SO:0000803	biolink:SequenceFeature	assortment_derived_aneuploid	A multi-chromosome aberration generated by reassortment of other aberration components; presumed to have a deficiency or a duplication.		mondo.json	assortment derived aneuploid	http://purl.obolibrary.org/obo/SO_0000803		
HP:0011947	biolink:PhenotypicFeature	Respiratory tract infection	An infection of the upper or lower respiratory tract.	UMLS:C0035243|MSH:D012141|SNOMEDCT_US:275498002	mondo.json	Respiratory tract infection|Respiratory infections|Respiratory infection	http://purl.obolibrary.org/obo/HP_0011947		
CHEBI:36132	biolink:ChemicalSubstance	alicyclic ketone	A cyclic ketone in which the carbocyclic ring structure which may be saturated or unsaturated, but may not be a benzenoid or other aromatic system.		mondo.json	alicyclic ketones|alicyclic ketone	http://purl.obolibrary.org/obo/CHEBI_36132		
GO:0048585	biolink:NamedThing	negative regulation of response to stimulus	Any process that stops, prevents, or reduces the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus.		mondo.json	downregulation of response to stimulus|down regulation of response to stimulus|inhibition of response to stimulus|down-regulation of response to stimulus	http://purl.obolibrary.org/obo/GO_0048585		
GO:0048584	biolink:NamedThing	positive regulation of response to stimulus	Any process that activates, maintains or increases the rate of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus.		mondo.json	stimulation of response to stimulus|up-regulation of response to stimulus|activation of response to stimulus|upregulation of response to stimulus|up regulation of response to stimulus	http://purl.obolibrary.org/obo/GO_0048584		
GO:0048583	biolink:NamedThing	regulation of response to stimulus	Any process that modulates the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0048583		
GO:0048582	biolink:NamedThing	positive regulation of post-embryonic development	Any process that activates or increases the frequency, rate or extent of post-embryonic development. Post-embryonic development is defined as the process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure.		mondo.json	upregulation of post-embryonic development|up regulation of post-embryonic development|stimulation of post-embryonic development|up-regulation of post-embryonic development|activation of post-embryonic development	http://purl.obolibrary.org/obo/GO_0048582		
GO:0048581	biolink:NamedThing	negative regulation of post-embryonic development	Any process that stops, prevents, or reduces the frequency, rate or extent of post-embryonic development. Post-embryonic development is defined as the process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure.		mondo.json	down-regulation of post-embryonic development|downregulation of post-embryonic development|down regulation of post-embryonic development|inhibition of post-embryonic development	http://purl.obolibrary.org/obo/GO_0048581		
GO:0048580	biolink:NamedThing	regulation of post-embryonic development	Any process that modulates the frequency, rate or extent of post-embryonic development. Post-embryonic development is defined as the process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure.		mondo.json		http://purl.obolibrary.org/obo/GO_0048580		
GO:0048589	biolink:NamedThing	developmental growth	The increase in size or mass of an entire organism, a part of an organism or a cell, where the increase in size or mass has the specific outcome of the progression of the organism over time from one condition to another.		mondo.json		http://purl.obolibrary.org/obo/GO_0048589		
GO:0061564	biolink:NamedThing	axon development	The progression of an axon over time. Covers axonogenesis (de novo generation of an axon) and axon regeneration (regrowth), as well as processes pertaining to the progression of the axon over time (fasciculation and defasciculation).		mondo.json		http://purl.obolibrary.org/obo/GO_0061564		
PO:0025497	biolink:NamedThing	collective plant structure	A plant structure (PO:0009011) that is a proper part of a whole plant (PO:0000003) and includes two or more adjacent plant organs (PO:0009008) or adjacent cardinal organ parts (PO:0025001), along with any associated portions of plant tissue (PO:0009007).	PO_GIT:479	mondo.json	estructura vegetal colectiva (Spanish, exact)|集合的植物構造 (Japanese, exact)	http://purl.obolibrary.org/obo/PO_0025497		
PO:0025496	biolink:NamedThing	multi-tissue plant structure	A plant structure (PO:0009011) that has as parts two or more portions of plant tissue (PO:0009007) of at least two different types and which through specific morphogenetic processes forms a single structural unit demarcated by primarily bona-fide boundaries from other structural units of different types.	PO_GIT:480	mondo.json	estructura vegetal con m&#250ltiples tejidos (Spanish, exact)|複数の組織からなる植物構造 (Japanese, exact)	http://purl.obolibrary.org/obo/PO_0025496		
GO:0048593	biolink:NamedThing	camera-type eye morphogenesis	The process in which the anatomical structures of the eye are generated and organized. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field.		mondo.json	camera-style eye morphogenesis	http://purl.obolibrary.org/obo/GO_0048593		
MONDO:0014390	biolink:Disease	hypotrichosis 13	Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene.	DOID:0110710|UMLS:C4014616|OMIM:615896	mondo.json	hypotrichosis caused by mutation in KRT71|hypotrichosis 13|HYPT13|hypt13|hypotrichosis type 13|hypotrichosis with woolly hair|KRT71 hypotrichosis	http://purl.obolibrary.org/obo/MONDO_0014390	UMLS:C4014616|DOID:0110710|https://omim.org/entry/615896	
GO:0048592	biolink:NamedThing	eye morphogenesis	The process in which the anatomical structures of the eye are generated and organized.		mondo.json		http://purl.obolibrary.org/obo/GO_0048592		
NCBITaxon:12845	biolink:OrganismalEntity	Swine influenza virus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_12845		
GO:1903999	biolink:NamedThing	negative regulation of eating behavior	Any process that stops, prevents or reduces the frequency, rate or extent of eating behavior.		mondo.json	down regulation of eating behaviour|down regulation of eating behavior|inhibition of eating behaviour|down-regulation of eating behaviour|negative regulation of eating behaviour|inhibition of eating behavior|downregulation of eating behavior|downregulation of eating behaviour|down-regulation of eating behavior	http://purl.obolibrary.org/obo/GO_1903999		
GO:1901336	biolink:NamedThing	lactone biosynthetic process	The chemical reactions and pathways resulting in the formation of lactone.		mondo.json	lactone anabolism|lactone synthesis|lactone formation|lactone biosynthesis	http://purl.obolibrary.org/obo/GO_1901336		
GO:1903998	biolink:NamedThing	regulation of eating behavior	Any process that modulates the frequency, rate or extent of eating behavior.		mondo.json	regulation of eating behaviour	http://purl.obolibrary.org/obo/GO_1903998		
GO:1901334	biolink:NamedThing	lactone metabolic process	The chemical reactions and pathways involving lactone.		mondo.json	lactone metabolism	http://purl.obolibrary.org/obo/GO_1901334		
GO:0048598	biolink:NamedThing	embryonic morphogenesis	The process in which anatomical structures are generated and organized during the embryonic phase. The embryonic phase begins with zygote formation. The end of the embryonic phase is organism-specific. For example, it would be at birth for mammals, larval hatching for insects and seed dormancy in plants.		mondo.json	embryonic anatomical structure morphogenesis	http://purl.obolibrary.org/obo/GO_0048598		
MONDO:0014399	biolink:Disease	ataxia-telangiectasia-like disorder 2		UMLS:C4014676|OMIM:615919|Orphanet:438134	mondo.json	ataxia-telangiectasia-like disorder 2|PCNA-related progressive neurodegenerative photosensitivity syndrome|ATLD2|ataxia-telangiectasia-like disorder type 2	http://purl.obolibrary.org/obo/MONDO_0014399	UMLS:C4014676|https://omim.org/entry/615919|Orphanet:438134	ordo_disease
SO:0000704	biolink:SequenceFeature	gene	A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions.		mondo.json	INSDC_feature:gene	http://purl.obolibrary.org/obo/SO_0000704		
NCBITaxon:2732092	biolink:OrganismalEntity	Shotokuvirae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732092		
MONDO:0014394	biolink:Disease	Diamond-Blackfan anemia 13	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS29 gene.	UMLS:C4014641|OMIM:615909	mondo.json	Diamond-Blackfan Anemia type 13|Diamond-Blackfan anemia 13|RPS29 Diamond-Blackfan anemia|DBA13|Diamond-Blackfan anemia caused by mutation in RPS29	http://purl.obolibrary.org/obo/MONDO_0014394	UMLS:C4014641|https://omim.org/entry/615909	
MONDO:0014393	biolink:Disease	lymphatic malformation 4	Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene.	DOID:0070209|OMIM:615907|UMLS:C4014628	mondo.json	LMPH1D|VEGFC hereditary lymphedema|hereditary lymphedema caused by mutation in VEGFC|lymphedema, hereditary, 1D|lymphedema, hereditary, type 1D	http://purl.obolibrary.org/obo/MONDO_0014393	https://omim.org/entry/615907|DOID:0070209	
MONDO:0014392	biolink:Disease	developmental and epileptic encephalopathy, 25	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene.	OMIM:615905|GARD:0012901|UMLS:C4014621|DOID:0080453	mondo.json	DEE25|developmental and epileptic encephalopathy 25, with amelogenesis imperfecta|SLC13A5 deficiency|early infantile epileptic encephalopathy 25|SLC13A5 early infantile epileptic encephalopathy|EIEE25|developmental and epileptic encephalopathy, 25|early infantile epileptic encephalopathy caused by mutation in SLC13A5|epileptic encephalopathy, early infantile, 25|epileptic encephalopathy, early infantile, type 25	http://purl.obolibrary.org/obo/MONDO_0014392	UMLS:C4014621|https://omim.org/entry/615905|DOID:0080453	gard_rare
GO:0097529	biolink:NamedThing	myeloid leukocyte migration	The movement of a myeloid leukocyte within or between different tissues and organs of the body.		mondo.json		http://purl.obolibrary.org/obo/GO_0097529		
MONDO:0014391	biolink:Disease	severe combined immunodeficiency due to CTPS1 deficiency	Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.	SCTID:763623001|Orphanet:420573|UMLS:C4014617|OMIM:615897	mondo.json	IMD24|immunodeficiency type 24|SCID due to CTPS1 deficiency|immunodeficiency 24	http://purl.obolibrary.org/obo/MONDO_0014391	http://identifiers.org/snomedct/763623001|UMLS:C4014617|https://omim.org/entry/615897|Orphanet:420573	ordo_disease
MONDO:0014398	biolink:Disease	combined oxidative phosphorylation defect type 21	Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.	OMIM:615918|DOID:0111465|SCTID:763211004|EFO:0009032|Orphanet:420733|UMLS:C4014668	mondo.json	combined oxidative phosphorylation deficiency 21|COXPD21|TARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 21|combined oxidative phosphorylation deficiency caused by mutation in TARS2	http://purl.obolibrary.org/obo/MONDO_0014398	DOID:0111465|UMLS:C4014668|https://omim.org/entry/615918|Orphanet:420733|http://identifiers.org/snomedct/763211004	ordo_disease
MONDO:0014397	biolink:Disease	combined oxidative phosphorylation defect type 20	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene.	UMLS:C4014660|Orphanet:420728|DOID:0111478|OMIM:615917	mondo.json	combined oxidative phosphorylation deficiency 20|COXPD20|VARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in VARS2|combined oxidative phosphorylation deficiency type 20	http://purl.obolibrary.org/obo/MONDO_0014397	DOID:0111478|UMLS:C4014660|https://omim.org/entry/615917|Orphanet:420728	ordo_disease
MONDO:0014396	biolink:Disease	dilated cardiomyopathy 1NN	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene.	DOID:0110432|OMIM:615916|UMLS:C4014656	mondo.json	CMD1NN|cardiomyopathy, dilated, type 1Nn|familial isolated dilated cardiomyopathy caused by mutation in RAF1|cardiomyopathy, dilated, 1NN|RAF1 familial isolated dilated cardiomyopathy|dilated cardiomyopathy type 1NN	http://purl.obolibrary.org/obo/MONDO_0014396	UMLS:C4014656|DOID:0110432|https://omim.org/entry/615916	
MONDO:0014395	biolink:Disease	frontotemporal dementia and/or amyotrophic lateral sclerosis 2	An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.	OMIM:615911|UMLS:C4014648|DOID:0060214	mondo.json	frontotemporal dementia and/or amyotrophic lateral sclerosis type 2|FTDALS2|frontotemporal dementia and/or amyotrophic lateral sclerosis 2	http://purl.obolibrary.org/obo/MONDO_0014395	UMLS:C4014648|DOID:0060214|https://omim.org/entry/615911	
MONDO:0002398	biolink:Disease	mucinous adenofibroma	A benign adenofibroma characterized by the presence of epithelial cells which contain intracytoplasmic mucin and a fibrotic stroma. A representative example is the ovarian mucinous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline mucinous adenofibromas and have a low grade malignant potential.	DOID:2700|ICDO:9015/0|NCIT:C8978|UMLS:C0334499	mondo.json	mucinous adenofibroma	http://purl.obolibrary.org/obo/MONDO_0002398	NCIT:C8978|DOID:2700|UMLS:C0334499	
MONDO:0002399	biolink:Disease	tenosynovial giant cell tumor, localized type	A well-circumscribed, lobulated tumor, completely or partially covered by a fibrous capsule. It usually arises in the fingers. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. The tumor is slow-growing, usually developing over several years. Clinical presentation includes painless edema of the affected site.	DOID:2701|ICD9:727.02|NCIT:C6532|SCTID:95413004|UMLS:C0588125	mondo.json	tenosynovial giant cell tumor, localized type|benign synovioma|localized tenosynovial giant cell neoplasm|localized giant cell tumor of tendon sheath|synovioma, benign (morphologic abnormality)|localized giant cell tumor of Tenosynovium|localized giant cell neoplasm of Tenosynovium|localized giant cell neoplasm of the Tenosynovium|localized giant cell neoplasm of tendon sheath|localized tenosynovial giant cell tumor|benign tumor of synovium|localized giant cell tumor of the Tenosynovium|nodular tenosynovitis	http://purl.obolibrary.org/obo/MONDO_0002399	http://identifiers.org/snomedct/95413004|DOID:2701|NCIT:C6532|UMLS:C0588125	
MONDO:0002394	biolink:Disease	obsolete Leydig cell tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002394		
MONDO:0002395	biolink:Disease	renal adenoma	An adenoma arising from the renal cortex.	UMLS:C0334684|DOID:2697|NCIT:C8383	mondo.json	renal tubule adenoma|renal adenoma|renal cell adenoma|kidney adenoma|renal cell adenoma (morphologic abnormality)|adenoma, renal cell, benign	http://purl.obolibrary.org/obo/MONDO_0002395	NCIT:C8383|DOID:2697|UMLS:C0334684	
MONDO:0002396	biolink:Disease	nephrogenic adenofibroma	A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells.	DOID:2698|ICDO:8965/0|NCIT:C39812|UMLS:C1266141	mondo.json	metanephric adenofibroma	http://purl.obolibrary.org/obo/MONDO_0002396	UMLS:C1266141|DOID:2698|NCIT:C39812	
MONDO:0002397	biolink:Disease	liver sarcoma	A malignant soft tissue neoplasm that arises from the liver. Representative examples include angiosarcoma, undifferentiated (embryonal) sarcoma, rhabdomyosarcoma, and leiomyosarcoma.	SCTID:254601002|DOID:270|UMLS:C0345906|NCIT:C4437	mondo.json	sarcoma of liver|sarcoma of the liver|hepatic sarcoma|liver sarcoma	http://purl.obolibrary.org/obo/MONDO_0002397	UMLS:C0345906|DOID:270|NCIT:C4437|http://identifiers.org/snomedct/254601002	
GO:1901343	biolink:NamedThing	negative regulation of vasculature development	Any process that stops, prevents or reduces the frequency, rate or extent of vasculature development.		mondo.json	down-regulation of vascular system development|negative regulation of vascular system development|down regulation of vascular system development|down-regulation of vasculature development|downregulation of vascular system development|down regulation of vasculature development|inhibition of vasculature development|inhibition of vascular system development|downregulation of vasculature development	http://purl.obolibrary.org/obo/GO_1901343		
MONDO:0002390	biolink:Disease	obsolete ossifying fibromyxoid tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002390		
MONDO:0002391	biolink:Disease	obsolete skin sarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002391		
MONDO:0002392	biolink:Disease	obsolete lymphangiosarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002392		
MONDO:0002393	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0002393		
GO:1901342	biolink:NamedThing	regulation of vasculature development	Any process that modulates the frequency, rate or extent of vasculature development.		mondo.json	regulation of vascular system development	http://purl.obolibrary.org/obo/GO_1901342		
MONDO:0014389	biolink:Disease	polyglucosan body myopathy 1 with or without immunodeficiency	A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.	OMIM:615895|Orphanet:329173|Orphanet:397937|UMLS:C4014605	mondo.json	polyglucosan body myopathy type 1|polyglucosan body myopathy, early-onset, with or without immunodeficiency|polyglucosan body myopathy 1 with or without immunodeficiency|PGBM1	http://purl.obolibrary.org/obo/MONDO_0014389	UMLS:C4014605|https://omim.org/entry/615895|Orphanet:397937	ordo_disease
MONDO:0014388	biolink:Disease	familial median cleft of the upper and lower lips	Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.	Orphanet:401942|OMIM:615892	mondo.json	OFC14|orofacial cleft 14	http://purl.obolibrary.org/obo/MONDO_0014388	https://omim.org/entry/615892|Orphanet:401942	ordo_malformation_syndrome
MONDO:0014383	biolink:Disease	myopathy, tubular aggregate, 2	Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene.	OMIM:615883|UMLS:C4014557	mondo.json	ORAI1 tubular aggregate myopathy|tubular aggregate myopathy caused by mutation in ORAI1|myopathy, tubular aggregate, type 2|myopathy, tubular aggregate, 2|TAM2	http://purl.obolibrary.org/obo/MONDO_0014383	UMLS:C4014557|https://omim.org/entry/615883	
MONDO:0014382	biolink:Disease	tall stature-intellectual disability-facial dysmorphism syndrome	A rare multiple congenital anomalies syndrome characterized by greater hight, mild to moderate intellectual disability and distinctive facial appereance like round face, heavy, horizontal eyebrows and narrow palpebral fissures.	Orphanet:404443|SCTID:768843007|UMLS:C4014545|OMIM:615879	mondo.json	tall stature-intellectual disability-facial dysmorphism syndrome|TBRS|DNMT3A-related overgrowth syndrome|TATTON-BROWN-Rahman syndrome|Tatton-Brown-Rahman overgrowth syndrome	http://purl.obolibrary.org/obo/MONDO_0014382	UMLS:C4014545|https://omim.org/entry/615879|Orphanet:404443|http://identifiers.org/snomedct/768843007	ordo_malformation_syndrome
SO:0000733	biolink:SequenceFeature	feature_attribute	An attribute describing a located_sequence_feature.		mondo.json	feature attribute	http://purl.obolibrary.org/obo/SO_0000733		
MONDO:0014381	biolink:Disease	cholestasis, progressive familial intrahepatic, 4	Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene.	Orphanet:79304|GARD:0009803|OMIM:615878|UMLS:CN776838|Orphanet:480483|UMLS:C2931067|DOID:0070224	mondo.json	TJP2 deficit|cholestasis, progressive familial intrahepatic, 4|progressive familial intrahepatic cholestasis 4|cholestasis, progressive familial intrahepatic, type 4|cholestasis, progressive familial intrahepatic 4|TJP2 progressive familial intrahepatic cholestasis|progressive familial intrahepatic cholestasis caused by mutation in TJP2|PFIC4|progressive familial intrahepatic cholestasis type 4	http://purl.obolibrary.org/obo/MONDO_0014381	Orphanet:480483|UMLS:C2931067|https://omim.org/entry/615878|UMLS:CN776838|DOID:0070224	ordo_clinical_subtype
MONDO:0014380	biolink:Disease	colobomatous microphthalmia-rhizomelic dysplasia syndrome	Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.	UMLS:C4014540|Orphanet:424099|OMIM:615877	mondo.json	microphthalmia or coloboma with or without rhizomelic skeletal dysplasia|microphthalmia, syndromic type 14|microphthalmia/coloboma and skeletal dysplasia syndrome|MCOPS14|microphthalmia, syndromic 14|microphthalmia-coloboma-rhizomelic skeletal dysplasia|microphthalmia and coloboma, with or without rhizomelic skeletal dysplasia|MCSKS	http://purl.obolibrary.org/obo/MONDO_0014380	UMLS:C4014540|https://omim.org/entry/615877|Orphanet:424099	ordo_malformation_syndrome
MONDO:0014387	biolink:Disease	leukoencephalopathy, progressive, with ovarian failure		OMIM:615889|UMLS:C4014588	mondo.json	LKENP|leukoencephalopathy, progressive, with ovarian failure	http://purl.obolibrary.org/obo/MONDO_0014387	UMLS:C4014588|https://omim.org/entry/615889	
MONDO:0014386	biolink:Disease	platelet-type bleeding disorder 18	Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.	DOID:0111051|UMLS:C4014584|Orphanet:420566|OMIM:615888	mondo.json	platelet-type bleeding disorder 18|bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency|RASGRP2 inherited bleeding disorder, platelet-type|BDPLT18|inherited bleeding disorder, platelet-type caused by mutation in RASGRP2|bleeding disorder due to CalDAG-GEFI deficiency|bleeding disorder, platelet-type, 18	http://purl.obolibrary.org/obo/MONDO_0014386	DOID:0111051|UMLS:C4014584|https://omim.org/entry/615888|Orphanet:420566	ordo_disease
MONDO:0014385	biolink:Disease	amelogenesis imperfecta hypomaturation type 2A5	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene.	UMLS:C4014578|OMIM:615887|DOID:0110063	mondo.json	amelogenesis imperfecta type IIA5|amelogenesis imperfecta hypomaturation type IIA5|amelogenesis imperfecta, hypomaturation type, IIA5|AI2A5|SLC24A4 amelogenesis imperfecta|amelogenesis imperfecta, type IIA5|amelogenesis imperfecta caused by mutation in SLC24A4	http://purl.obolibrary.org/obo/MONDO_0014385	DOID:0110063|UMLS:C4014578|https://omim.org/entry/615887	
PO:0025477	biolink:NamedThing	floral organ primordium	A primordium (PO:0025127) that is committed to the development of a floral organ (PO:0025395) and is part of a reproductive shoot apex (PO:0025222).	PO_GIT:465	mondo.json	portion of floral structure primordium tissue (exact)|primordio de organo floral (Spanish, exact)|floral structure primordia (exact, plural)|花器官原基 (Japanese, exact)	http://purl.obolibrary.org/obo/PO_0025477		Angiosperm
MONDO:0014384	biolink:Disease	hypotrichosis 12	Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene.	UMLS:C4014563|OMIM:615885|DOID:0110709	mondo.json	hypotrichosis 12|hypt12|HYPT12|hypotrichosis type 12|RPL21 hypotrichosis|hypotrichosis caused by mutation in RPL21	http://purl.obolibrary.org/obo/MONDO_0014384	UMLS:C4014563|DOID:0110709|https://omim.org/entry/615885	
GO:1901361	biolink:NamedThing	organic cyclic compound catabolic process	The chemical reactions and pathways resulting in the breakdown of organic cyclic compound.		mondo.json	organic cyclic compound breakdown|organic cyclic compound degradation|organic cyclic compound catabolism	http://purl.obolibrary.org/obo/GO_1901361		
GO:1901362	biolink:NamedThing	organic cyclic compound biosynthetic process	The chemical reactions and pathways resulting in the formation of organic cyclic compound.		mondo.json	organic cyclic compound synthesis|organic cyclic compound biosynthesis|organic cyclic compound formation|organic cyclic compound anabolism	http://purl.obolibrary.org/obo/GO_1901362		
MONDO:0014379	biolink:Disease	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.	GARD:0012931|DOID:0070058|SCTID:766824003|OMIM:615873|Orphanet:404448|UMLS:C4014538	mondo.json	MRD28|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder|autosomal dominant intellectual disability 28|ADNP syndrome|autosomal dominant mental retardation 28|Helsmoortel-VAN DER AA syndrome|intellectual disability, autosomal dominant 28|mental retardation, autosomal dominant 28|HVDAS	http://purl.obolibrary.org/obo/MONDO_0014379	http://identifiers.org/snomedct/766824003|UMLS:C4014538|https://omim.org/entry/615873|Orphanet:404448|DOID:0070058	ordo_malformation_syndrome
MONDO:0014378	biolink:Disease	primary ciliary dyskinesia 29	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCNO gene.	UMLS:C4014534|OMIM:615872|DOID:0110600	mondo.json	CILD29|ciliary dyskinesia, primary, 29, without situs inversus|ciliary dyskinesia, primary, type 29|primary ciliary dyskinesia type 29|ciliary dyskinesia, primary, 29|CCNO primary ciliary dyskinesia|primary ciliary dyskinesia 29 without situs inversus|primary ciliary dyskinesia caused by mutation in CCNO	http://purl.obolibrary.org/obo/MONDO_0014378	UMLS:C4014534|DOID:0110600|https://omim.org/entry/615872	
CL:0001200	biolink:Cell	lymphocyte of B lineage, CD19-positive	A lymphocyte of B lineage that is CD19-positive.		mondo.json		http://purl.obolibrary.org/obo/CL_0001200		
MONDO:0014377	biolink:Disease	developmental and epileptic encephalopathy, 24	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene.	UMLS:C4014531|OMIM:615871|DOID:0080429	mondo.json	DEE24|epileptic encephalopathy, early infantile, 24|epileptic encephalopathy, early infantile, type 24|HCN1 early infantile epileptic encephalopathy|EIEE24|developmental and epileptic encephalopathy 24|early infantile epileptic encephalopathy caused by mutation in HCN1	http://purl.obolibrary.org/obo/MONDO_0014377	DOID:0080429|UMLS:C4014531|https://omim.org/entry/615871	
GO:1901360	biolink:NamedThing	organic cyclic compound metabolic process	The chemical reactions and pathways involving organic cyclic compound.		mondo.json	organic cyclic compound metabolism	http://purl.obolibrary.org/obo/GO_1901360		
CL:0001201	biolink:Cell	B cell, CD19-positive	A B cell that is CD19-positive.		mondo.json	CD19-positive B cell|B-lymphocyte, CD19-positive|CD19+ B cell|B lymphocyte, CD19-positive|B-cell, CD19-positive	http://purl.obolibrary.org/obo/CL_0001201		
MONDO:0014372	biolink:Disease	cone-rod dystrophy 19	Any cone-rod dystrophy in which the cause of the disease is a mutation in the TTLL5 gene.	UMLS:C4014501|OMIM:615860|DOID:0111025	mondo.json	TTLL5 cone-rod dystrophy|CORD19|cone-rod dystrophy type 19|cone-rod dystrophy 19|cone-rod dystrophy caused by mutation in TTLL5	http://purl.obolibrary.org/obo/MONDO_0014372	DOID:0111025|UMLS:C4014501|https://omim.org/entry/615860	
MONDO:0014371	biolink:Disease	developmental and epileptic encephalopathy, 23		UMLS:C4014492|DOID:0080415|Orphanet:411986|OMIM:615859	mondo.json	early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome|epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome|developmental and epileptic encephalopathy, 23|EIEE23|epileptic encephalopathy, early infantile, 23|epileptic encephalopathy, early infantile, type 23|developmental and epileptic encephalopathy 23	http://purl.obolibrary.org/obo/MONDO_0014371	DOID:0080415|Orphanet:411986|UMLS:C4014492|https://omim.org/entry/615859	ordo_malformation_syndrome
MONDO:0014370	biolink:Disease	pontocerebellar hypoplasia type 2E	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene.	UMLS:C4014488|OMIM:615851|DOID:0060271	mondo.json	PCH2E|pontocerebellar hypoplasia type 2E|VPS53 non-syndromic pontocerebellar hypoplasia|pontocerebellar hypoplasia, type 2E|non-syndromic pontocerebellar hypoplasia caused by mutation in VPS53	http://purl.obolibrary.org/obo/MONDO_0014370	UMLS:C4014488|DOID:0060271|https://omim.org/entry/615851	
MONDO:0014376	biolink:Disease	intellectual disability, autosomal dominant 27		DOID:0070057|UMLS:C4014528|OMIM:615866	mondo.json	mental retardation, autosomal dominant type 27|autosomal dominant intellectual disability 27|CSS9|autosomal dominant non-syndromic intellectual disability 27|autosomal dominant mental retardation 27|intellectual disability, autosomal dominant type 27|mental retardation, autosomal dominant 27|MRD27|Coffin-Siris syndrome 9|intellectual disability, autosomal dominant 27	http://purl.obolibrary.org/obo/MONDO_0014376	UMLS:C4014528|https://omim.org/entry/615866|DOID:0070057	
MONDO:0014375	biolink:Disease	congenital diarrhea 7 with exudative enteropathy	Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.	Orphanet:329242|UMLS:C4014516|DOID:0060778|OMIM:615863	mondo.json	diarrhea 7|DGAT1 congenital diarrhea|diarrhea type 7|congenital chronic diarrhea with protein-losing enteropathy|diarrhea 7, protein-losing enteropathy type|congenital diarrhea caused by mutation in DGAT1|DIAR7|congenital chronic diarrhea with exudative enteropathy	http://purl.obolibrary.org/obo/MONDO_0014375	Orphanet:329242|UMLS:C4014516|https://omim.org/entry/615863|DOID:0060778	ordo_disease
MONDO:0014374	biolink:Disease	nephronophthisis 18	Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene.	UMLS:C3890591|OMIM:615862|DOID:0111125	mondo.json	nephronophthisis (disease) caused by mutation in CEP83|NPHP18|nephronophthisis type 18|CEP83 nephronophthisis (disease)|nephronophthisis 18	http://purl.obolibrary.org/obo/MONDO_0014374	DOID:0111125|UMLS:C3890591|https://omim.org/entry/615862	
GO:0097503	biolink:NamedThing	sialylation	The covalent attachment of sialic acid to a substrate molecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0097503		
MONDO:0014373	biolink:Disease	nephrotic syndrome, type 10	Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene.	DOID:0080386|OMIM:615861|Orphanet:69061|UMLS:C4014507	mondo.json	EMP2 nephrotic syndrome|NPHS10|nephrotic syndrome, type 10|nephrotic syndrome caused by mutation in EMP2	http://purl.obolibrary.org/obo/MONDO_0014373	DOID:0080386|UMLS:C4014507|https://omim.org/entry/615861	
GO:1901363	biolink:NamedThing	heterocyclic compound binding	Binding to heterocyclic compound.		mondo.json		http://purl.obolibrary.org/obo/GO_1901363		
NCBITaxon:12870	biolink:OrganismalEntity	Variola major virus		GC_ID:1	mondo.json	variola major virus VAR	http://purl.obolibrary.org/obo/NCBITaxon_12870		
GO:1901374	biolink:NamedThing	acetate ester transport	The directed movement of an acetate ester into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_1901374		
HGNC:23198	biolink:NamedThing	CYP4V2			mondo.json		http://identifiers.org/hgnc/23198		
NCBITaxon:36831	biolink:OrganismalEntity	Clostridium botulinum F		GC_ID:11|PMID:8863443	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_36831		
NCBITaxon:36830	biolink:OrganismalEntity	Clostridium botulinum E		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_36830		
GO:0097530	biolink:NamedThing	granulocyte migration	The movement of a granulocyte within or between different tissues and organs of the body.		mondo.json		http://purl.obolibrary.org/obo/GO_0097530		
NCBITaxon:1648037	biolink:OrganismalEntity	Poodae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1648037		
HGNC:23168	biolink:NamedThing	FANCM			mondo.json		http://identifiers.org/hgnc/23168		
NCBITaxon:1648038	biolink:OrganismalEntity	Triticodae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1648038		
HGNC:11180	biolink:NamedThing	SOD2			mondo.json		http://identifiers.org/hgnc/11180		
CHR:9606-chr4p16	biolink:NamedThing	4p16 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr4p16		
CHEBI:36093	biolink:ChemicalSubstance	inorganic chloride			mondo.json	inorganic chloride salt|inorganic chlorides|inorganic chloride salts	http://purl.obolibrary.org/obo/CHEBI_36093		
HGNC:23162	biolink:NamedThing	ALG10			mondo.json		http://identifiers.org/hgnc/23162		
NCBITaxon:1648030	biolink:OrganismalEntity	Triticinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1648030		
HGNC:23161	biolink:NamedThing	ALG8			mondo.json		http://identifiers.org/hgnc/23161		
HGNC:23166	biolink:NamedThing	PNPT1			mondo.json		http://identifiers.org/hgnc/23166		
MONDO:0041996	biolink:Disease	thallium poisoning		SCTID:51040009	mondo.json	thallium poisoning	http://purl.obolibrary.org/obo/MONDO_0041996	http://identifiers.org/snomedct/51040009	
NCBITaxon:36827	biolink:OrganismalEntity	Clostridium botulinum B		PMID:8863443|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_36827		
NCBITaxon:36826	biolink:OrganismalEntity	Clostridium botulinum A		PMID:8863443|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_36826		
HGNC:11183	biolink:NamedThing	SON			mondo.json		http://identifiers.org/hgnc/11183		
HGNC:11188	biolink:NamedThing	SOS2			mondo.json		http://identifiers.org/hgnc/11188		
HGNC:11187	biolink:NamedThing	SOS1			mondo.json		http://identifiers.org/hgnc/11187		
HGNC:11185	biolink:NamedThing	SORL1			mondo.json		http://identifiers.org/hgnc/11185		
HGNC:11191	biolink:NamedThing	SOX11			mondo.json		http://identifiers.org/hgnc/11191		
HGNC:11190	biolink:NamedThing	SOX10			mondo.json		http://identifiers.org/hgnc/11190		
HGNC:11195	biolink:NamedThing	SOX2			mondo.json		http://identifiers.org/hgnc/11195		
HGNC:11194	biolink:NamedThing	SOX18			mondo.json		http://identifiers.org/hgnc/11194		
HGNC:11199	biolink:NamedThing	SOX3			mondo.json		http://identifiers.org/hgnc/11199		
NCBITaxon:2732007	biolink:OrganismalEntity	Nucleocytoviricota		GC_ID:1	mondo.json	nucleocytoplasmic large DNA viruses|NCLDV	http://purl.obolibrary.org/obo/NCBITaxon_2732007		
MONDO:0002336	biolink:Disease	obsolete inflammatory and toxic neuropathy		ICD9:357.8|ICD9:357.7|DOID:2537|ICD9:357.9|ICD9:357|SCTID:267601009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002336	DOID:2537|http://identifiers.org/snomedct/267601009	
MONDO:0004999	biolink:Disease	obsolete chondrosarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004999		
NCBITaxon:2732008	biolink:OrganismalEntity	Preplasmiviricota		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732008		
MONDO:0002337	biolink:Disease	intra-abdominal hemangioma	A hemangioma arising from organs within the abdominal cavity.	UMLS:C0154052|DOID:254|NCIT:C3635|ICD10CM:D18.03|ICD9:228.04|SCTID:189197001	mondo.json	hemangioma of intra-abdominal structure|hemangioma of intra-abdominal structures|intra-abdominal hemangioma|hemangioma, intra-abdominal|abdominal cavity hemangioma|hemangioma of abdominal cavity	http://purl.obolibrary.org/obo/MONDO_0002337	UMLS:C0154052|http://identifiers.org/snomedct/189197001|NCIT:C3635|DOID:254|http://purl.bioontology.org/ontology/ICD10CM/D18.03	
MONDO:0004998	biolink:Disease	obsolete chondromyxoid fibroma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004998		
NCBITaxon:2732005	biolink:OrganismalEntity	Bamfordvirae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732005		
MONDO:0002338	biolink:Disease	extratemporal epilepsy	An epilepsy syndrome that is located in an area of the brain other than the temporal lobe.	SCTID:111498005|NCIT:C7760|ICD9:345.80|DOID:2544|UMLS:C0270849	mondo.json	extratemporal epilepsy	http://purl.obolibrary.org/obo/MONDO_0002338	DOID:2544|NCIT:C7760|http://identifiers.org/snomedct/111498005|UMLS:C0270849	
NCBITaxon:10255	biolink:OrganismalEntity	Variola virus		GC_ID:1	mondo.json	small pox virus|variola virus VAR|smallpox virus|smallpox	http://purl.obolibrary.org/obo/NCBITaxon_10255		
HGNC:23147	biolink:NamedThing	UNC13D			mondo.json		http://identifiers.org/hgnc/23147		
MONDO:0002339	biolink:Disease	obsolete hemangioma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002339		
MONDO:0004995	biolink:Disease	cardiovascular disorder	A disease involving the cardiovascular system.	SCTID:49601007|ICD9:429.81|MESH:D002318|NCIT:C2931|EFO:0000319|ICD9:423.8|ICD9:390-459.99|ICD9:459.89|ICD9:429|ICD9:429.89|ICD9:459.9|UMLS:C0007222|ICD9:429.2|ICD9:424|ICD9:423|ICD9:429.8|ICD9:420-429.99|DOID:1287|ICD9:429.7	mondo.json	cardiovascular disorder|disease of subdivision of hemolymphoid system|cardiovascular disease (CVD)|cardiovascular disease|cardiovascular system disease|disease or disorder of cardiovascular system|circulatory system disease|disease of cardiovascular system|disorder of cardiovascular system|cardiovascular system disease or disorder	http://purl.obolibrary.org/obo/MONDO_0004995	DOID:1287|http://identifiers.org/mesh/D002318|NCIT:C2931|http://identifiers.org/snomedct/49601007|UMLS:C0007222	
MONDO:0002332	biolink:Disease	splenic disorder	A disease involving the spleen.	DOID:2529|EFO:0009002|NCIT:C35823|ICD9:289.50|SCTID:51244008|UMLS:C0037997|ICD10CM:D73|MESH:D013158	mondo.json	spleen disease or disorder|disorder of spleen|spleen disease|spleen disorder|disease of spleen|disease or disorder of spleen|splenic disease|splenic disorder|Dyssplenism	http://purl.obolibrary.org/obo/MONDO_0002332	DOID:2529|http://identifiers.org/mesh/D013158|NCIT:C35823|http://identifiers.org/snomedct/51244008|http://purl.bioontology.org/ontology/ICD10CM/D73|UMLS:C0037997	
NCBITaxon:10257	biolink:OrganismalEntity	Parapoxvirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_10257		
MONDO:0004994	biolink:Disease	cardiomyopathy	A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.	SCTID:57809008|ICD9:425.4|EFO:0000318|SCTID:85898001|GARD:0011958|ICD9:425|Orphanet:167848|MESH:D009202|ICD10CM:I42|NCIT:C34830|ICD9:425.9|DOID:0050700|MedDRA:10007636|UMLS:C0878544	mondo.json	Cardiomyopathies|cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0004994	UMLS:C0878544|http://identifiers.org/snomedct/85898001|Orphanet:167848|http://identifiers.org/mesh/D009202|DOID:0050700|NCIT:C34830|http://purl.bioontology.org/ontology/ICD10CM/I42	ordo_group_of_disorders|disease_grouping
NCBITaxon:10258	biolink:OrganismalEntity	Orf virus		GC_ID:1	mondo.json	Contagious pustular dermatitis virus	http://purl.obolibrary.org/obo/NCBITaxon_10258		
MONDO:0002333	biolink:Disease	splenic abscess	An abscess that is located in the spleen.	ICD10CM:D73.3|HP:0025059|NCIT:C35347|SCTID:82053000|UMLS:C0272412|ICD9:289.59|DOID:2530	mondo.json	splenic abscess|splenic abscess (disease)	http://purl.obolibrary.org/obo/MONDO_0002333	DOID:2530|http://identifiers.org/snomedct/82053000|http://purl.bioontology.org/ontology/ICD10CM/D73.3|UMLS:C0272412|NCIT:C35347	
MONDO:0004997	biolink:Disease	chondroblastoma	A benign, chondroid-producing, well-circumscribed, lytic neoplasm usually arising from the epiphysis of long bones. It is characterized by the presence of chondroblasts, osteoclast-like giant cells, chondroid formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. It occurs most frequently in children and young adults and rarely metastasizes.	DOID:2649|ONCOTREE:CHBL|NCIT:C2945|MESH:D002804|GARD:0006047|UMLS:C0008441|EFO:0000331|HP:0030432|ICDO:9230/0	mondo.json	chondroblastoma|chondroblastoma of bone|CHBL|chondroblastoma (disease)	http://purl.obolibrary.org/obo/MONDO_0004997	DOID:2649|http://identifiers.org/mesh/D002804|NCIT:C2945|UMLS:C0008441	
MONDO:0002334	biolink:Disease	hematopoietic and lymphoid system neoplasm	Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003	UMLS:C1512393|UMLS:C0376544|SCTID:129154003|NCIT:C35813|UMLS:C0376545|MESH:D019337|DOID:2531	mondo.json	hematologic malignancy|neoplasm of blood|hematopoietic cancer|blood tumor|hematopoietic and lymphoid system tumor|neoplasm of hematopoietic system|hematopoietic system tumor|hematopoietic tumors|blood cancer|malignant hematopoietic neoplasm (morphologic abnormality)|hematologic neoplasm|hematopoietic neoplasm (morphologic abnormality)|blood neoplasm (disease)|hematologic cancer|tumor of blood|hematological tumors|tumor of hematopoietic system|hematopoietic neoplasm|hematopoietic and lymphoid system neoplasm|hematopoietic system neoplasm	http://purl.obolibrary.org/obo/MONDO_0002334	http://identifiers.org/mesh/D019337|DOID:2531|UMLS:C0376544|UMLS:C0376545|http://identifiers.org/snomedct/129154003|NCIT:C35813|UMLS:C1512393	
MONDO:0004996	biolink:Disease	childhood acute myeloid leukemia	Acute myeloid leukemia occurring in childhood.	UMLS:C0220621|NCIT:C9160|ICDO:M9861/3|DOID:0070323|EFO:0000330	mondo.json	childhood acute myeloblastic leukemia|pediatric acute myeloid leukemia|childhood acute granulocytic leukemia|pediatric acute myelogenous leukemia|acute myeloid leukemia of childhood|paediatric acute myeloid leukaemia|childhood acute myelocytic leukemia|pediatric AML|pediatric acute myeloblastic leukemia|childhood acute myeloid leukemia|acute myeloid leukemia (AML)|childhood acute myelogenous leukemia|childhood acute myeloid leukaemia|childhood AML|pediatric acute myelocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0004996	UMLS:C0220621|DOID:0070323|NCIT:C9160	
MONDO:0002335	biolink:Disease	chronic inflammatory demyelinating polyneuritis	An immunologic inflammatory disorder characterized by loss of myelin in the peripheral nerves. Patients present with progressive weakness and loss of sensory function in the legs and arms.	ICD9:357.81|MESH:D020277|NCIT:C84636|DOID:2536|SCTID:444728005|SCTID:128209004|ICD10CM:G61.81	mondo.json	chronic inflammatory demyelinating polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0002335	DOID:2536|NCIT:C84636|http://purl.bioontology.org/ontology/ICD10CM/G61.81|http://identifiers.org/snomedct/444728005	
MONDO:0004991	biolink:Disease	minimally invasive lung adenocarcinoma	A solitary adenocarcinoma arising from the lung measuring 3 cm or less. It is characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. It is usually a non-mucinous adenocarcinoma, but rarely may be mucinous.	EFO:0000308|DOID:4926|NCIT:C2923|MESH:D002282|ICD9:162.9|SCTID:373627005|ICDO:8251/3|ICDO:8250/3	mondo.json	bronchiolo-alveolar lung carcinoma|minimally invasive lung adenocarcinoma|bronchioalveolar lung carcinoma|bronchioalveolar adenocarcinoma of lung|bac|bronchiolo-alveolar adenocarcinoma|bronchioalveolar adenocarcinoma of the lung|carcinoma, bronchioloalveolar, malignant|bronchiolo-alveolar carcinoma of lung|bronchioloalveolar adenocarcinoma of lung|bronchiolo-alveolar carcinoma of the lung|bronchioloalveolar adenocarcinoma of the lung|bronchioloalveolar lung adenocarcinoma|bronchioloalveolar carcinoma	http://purl.obolibrary.org/obo/MONDO_0004991	http://identifiers.org/snomedct/373627005|http://identifiers.org/mesh/D002282|NCIT:C2923|DOID:4926	
MONDO:0004990	biolink:Disease	breast tumor luminal A or B	Subsets of breast carcinoma defined by expression of genes characteristic of luminal epithelial cells.	DOID:0060548|EFO:0000306	mondo.json	breast tumor luminal|luminal breast cancer|luminal breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0004990	DOID:0060548	
HGNC:23141	biolink:NamedThing	TRMT5			mondo.json		http://identifiers.org/hgnc/23141		
MONDO:0004993	biolink:Disease	carcinoma	A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas.	NCIT:C2916|DOID:305|UMLS:C0007097|EFO:0000313|SCTID:722688002|ICDO:8011/3|ICDO:8010/3|MESH:D002277|CSP:2000-1867	mondo.json	malignant epithelioma|carcinoma, malignant|malignant epithelial neoplasm|malignant epithelial tumor|epithelial carcinoma|epithelioma|epithelioma malignant|carcinoma|Other carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	http://identifiers.org/mesh/D002277|NCIT:C2916|DOID:305|UMLS:C0007097|http://identifiers.org/snomedct/722688002	
MONDO:0002330	biolink:Disease	alcoholic psychosis	A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol.	EFO:1001260|ICD9:291.9|ICD9:291.89|MESH:D011604|DOID:252|ICD9:291.8|SCTID:42344001	mondo.json	alcoholic psychoses	http://purl.obolibrary.org/obo/MONDO_0002330	DOID:252|http://identifiers.org/snomedct/42344001|http://identifiers.org/mesh/D011604	
MONDO:0004992	biolink:Disease	cancer	A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas.	DOID:162|NCIT:C9305|SCTID:363346000|ICD9:195.8|ONCOTREE:MT|EFO:0000311|DOID:0050687|NIFSTD:birnlex_406|ICD9:199|ICD9:199.1|DOID:0050686|GARD:0011960|UMLS:C0006826|ICDO:8000/3	mondo.json	cancer|malignant tumor|primary cancer|malignancy|cell type cancer|malignant neoplasm|MT|malignant Growth|organ system cancer|CA|malignant neoplastic disease|neoplasm, malignant|malignant neoplasm (disease)|neoplasm (disease), malignant	http://purl.obolibrary.org/obo/MONDO_0004992	UMLS:C0006826|http://identifiers.org/snomedct/363346000|DOID:162|NCIT:C9305|DOID:0050686|DOID:0050687	
MONDO:0002331	biolink:Disease	nephrosis	Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA.	MESH:D009401|DOID:2527|UMLS:C0027720	mondo.json	Nephroses	http://purl.obolibrary.org/obo/MONDO_0002331	DOID:2527|UMLS:C0027720|http://identifiers.org/mesh/D009401	
MONDO:0014319	biolink:Disease	renal hypodysplasia/aplasia 2	Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene.	OMIM:615721|UMLS:C3810359	mondo.json	renal hypodysplasia/aplasia 2|renal hypodysplasia/aplasia type 2|RHDA2|FGF20 renal agenesis (disease)|renal agenesis (disease) caused by mutation in FGF20	http://purl.obolibrary.org/obo/MONDO_0014319	https://omim.org/entry/615721|UMLS:C3810359	
HGNC:23143	biolink:NamedThing	SYT14			mondo.json		http://identifiers.org/hgnc/23143		
MONDO:0014325	biolink:Disease	pachyonychia congenita 4	Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene.	UMLS:C3714949|OMIM:615728	mondo.json	pachyonychia congenita caused by mutation in KRT6B|pachyonychia congenita type 4|pachyonychia congenita 4|KRT6B pachyonychia congenita|PC4	http://purl.obolibrary.org/obo/MONDO_0014325	https://omim.org/entry/615728|UMLS:C3714949	
MONDO:0016988	biolink:Disease	hyperinsulinism due to HNF4A deficiency	Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1).	SCTID:717048002|UMLS:C4274078|Orphanet:263455	mondo.json	hyperinsulinemic hypoglycemia due to HNF4A deficiency	http://purl.obolibrary.org/obo/MONDO_0016988	Orphanet:263455|UMLS:C4274078|http://identifiers.org/snomedct/717048002	ordo_disease
MONDO:0014324	biolink:Disease	pachyonychia congenita 3	Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene.	UMLS:C3714948|OMIM:615726	mondo.json	pachyonychia congenita caused by mutation in KRT6A|PC3|pachyonychia congenita 3|KRT6A pachyonychia congenita|pachyonychia congenita type 3	http://purl.obolibrary.org/obo/MONDO_0014324	https://omim.org/entry/615726|UMLS:C3714948	
MONDO:0016989	biolink:Disease	Fuchs heterochromic iridocyclitis	Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities.	SCTID:11226001|UMLS:C0016782|DOID:9375|GARD:0006791|ICD9:364.21|Orphanet:263479|MedDRA:10017406	mondo.json	Fuchs' heterochromic cyclitis|FHI|Fuchs heterochromic uveitis|Fuchs' heterochromic uveitis|Fuchs heterochromic cyclitis|Fuchs uveitis syndrome|Fuch's heterochromic iridocyclitis	http://purl.obolibrary.org/obo/MONDO_0016989	DOID:9375|Orphanet:263479|UMLS:C0016782|http://identifiers.org/snomedct/11226001	ordo_disease
MONDO:0014323	biolink:Disease	retinitis pigmentosa 68	Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene.	DOID:0110374|ICD10CM:H35.5|OMIM:615725|UMLS:C3810380	mondo.json	SLC7A14 retinitis pigmentosa|retinitis pigmentosa caused by mutation in SLC7A14|RP68|retinitis pigmentosa 68|retinitis pigmentosa type 68	http://purl.obolibrary.org/obo/MONDO_0014323	https://omim.org/entry/615725|UMLS:C3810380|DOID:0110374	
MONDO:0014322	biolink:Disease	premature ovarian failure 9	Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene.	UMLS:C3810376|OMIM:615724	mondo.json	HFM1 primary ovarian failure|Pof9|premature ovarian failure 9|primary ovarian failure caused by mutation in HFM1|premature ovarian failure type 9	http://purl.obolibrary.org/obo/MONDO_0014322	https://omim.org/entry/615724|UMLS:C3810376	
HGNC:11167	biolink:NamedThing	SNTA1			mondo.json		http://identifiers.org/hgnc/11167		
MONDO:0014329	biolink:Disease	atrial standstill 2	Any atrial standstill in which the cause of the disease is a mutation in the NPPA gene.	UMLS:C3810401|OMIM:615745	mondo.json	atrial standstill type 2|atrial standstill caused by mutation in NPPA|NPPA atrial standstill|ATRST2|atrial dilation and standstill|cardiomyopathy, atrial dilated, with atrial standstill|atrial standstill 2	http://purl.obolibrary.org/obo/MONDO_0014329	https://omim.org/entry/615745|UMLS:C3810401	
MONDO:0016984	biolink:Disease	nevus of Ota	Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus.	MedDRA:10051713|SCTID:414929001|Orphanet:263425|MESH:D009507|NCIT:C7583|ICD9:224.0|EFO:1000396|UMLS:C0027961	mondo.json	oculocutaneous melanocytic Nevus|oculodermal melanocytosis|Ota's Nevus|Nevus fusculoceruleus ophthalmomaxillaris	http://purl.obolibrary.org/obo/MONDO_0016984	http://identifiers.org/snomedct/414929001|Orphanet:263425|UMLS:C0027961|http://identifiers.org/mesh/D009507|NCIT:C7583	ordo_disease
MONDO:0016985	biolink:Disease	nevus of Ito	Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and may in rare occasions occur together with the latter.	GARD:0010830|Orphanet:263432|NCIT:C7582|EFO:1000395|UMLS:CN202288|UMLS:C0022283	mondo.json	nevi of Ito|hypomelanosis of Ito|nevus fuscocaeruleus acromiodeltoideus|Ito's Nevus	http://purl.obolibrary.org/obo/MONDO_0016985	UMLS:C0022283|Orphanet:263432|UMLS:CN202288|NCIT:C7582	ordo_disease
MONDO:0014328	biolink:Disease	developmental and epileptic encephalopathy, 19	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene.	NCIT:C142802|UMLS:C3810400|DOID:0080431|OMIM:615744	mondo.json	epileptic encephalopathy, early infantile, type 19|DEE19|EIEE19|Early Infantile epileptic encephalopathy 19|developmental and epileptic encephalopathy 19|early infantile epileptic encephalopathy caused by mutation in GABRA1|GABRA1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 19	http://purl.obolibrary.org/obo/MONDO_0014328	https://omim.org/entry/615744|NCIT:C142802|UMLS:C3810400|DOID:0080431	
MONDO:0014327	biolink:Disease	palmoplantar keratoderma, nonepidermolytic, focal or diffuse		Orphanet:402003|UMLS:C3810394|OMIM:615735	mondo.json	palmoplantar keratoderma, nonepidermolytic, focal or diffuse|PPKNEFD|autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering	http://purl.obolibrary.org/obo/MONDO_0014327	https://omim.org/entry/615735|Orphanet:402003|UMLS:C3810394	ordo_disease
MONDO:0016986	biolink:Disease	congenital smooth muscle hamartoma	Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported.	UMLS:C0406819|Orphanet:263435|ICD9:759.6|SCTID:239144007	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016986	http://identifiers.org/snomedct/239144007|Orphanet:263435|UMLS:C0406819	ordo_disease
MONDO:0014326	biolink:Disease	nemaline myopathy 9	Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene.	OMIM:615731|UMLS:C3810384|DOID:0110929	mondo.json	nemaline myopathy caused by mutation in KLHL41|nemaline myopathy type 9|nemaline myopathy 9|KLHL41 nemaline myopathy|NEM9	http://purl.obolibrary.org/obo/MONDO_0014326	https://omim.org/entry/615731|DOID:0110929|UMLS:C3810384	
MONDO:0016987	biolink:Disease	neuroacanthocytosis	Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.	GARD:0010902|MESH:D054546|NCIT:C84926|DOID:0050765|Orphanet:263440	mondo.json	neuroacanthocytosis syndrome	http://purl.obolibrary.org/obo/MONDO_0016987	Orphanet:263440|NCIT:C84926|http://identifiers.org/mesh/D054546|DOID:0050765	ordo_group_of_disorders|disease_grouping
MONDO:0016980	biolink:Disease	ATR-X-related syndrome		UMLS:CN202282|Orphanet:263355	mondo.json	ATR-X-related syndrome	http://purl.obolibrary.org/obo/MONDO_0016980	UMLS:CN202282|Orphanet:263355	disease_grouping|ordo_group_of_disorders
MONDO:0016981	biolink:Disease	infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome		Orphanet:263410|UMLS:CN202284	mondo.json	infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	http://purl.obolibrary.org/obo/MONDO_0016981	Orphanet:263410|UMLS:CN202284	ordo_disease
HGNC:11161	biolink:NamedThing	SNRPE			mondo.json		http://identifiers.org/hgnc/11161		
MONDO:0016982	biolink:Disease	angiosarcoma	A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma.	HP:0200058|EFO:0003968|EFO:0003967|Orphanet:263413|ONCOTREE:ANGS|MESH:D006394|ICD9:171.9|MedDRA:10002476|DOID:0001816|UMLS:C0018923|ICDO:9120/3|NCIT:C3088|SCTID:403977003	mondo.json	vascular sarcoma|malignant hemangioendothelioma|malignant angioendothelioma|hemangiosarcoma, malignant|angiosarcoma|hemangiosarcoma|blood vessel sarcoma|sarcoma of blood vessel|angiosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0016982	Orphanet:263413|UMLS:C0018923|DOID:0001816|NCIT:C3088|http://identifiers.org/snomedct/403977003|http://identifiers.org/mesh/D006394	ordo_disease
MONDO:0016983	biolink:Disease	Bartter syndrome with hypocalcemia	Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH)	Orphanet:263417|UMLS:C3715128|OMIM:601198	mondo.json	Bartter syndrome type V|Bartter syndrome type 5	http://purl.obolibrary.org/obo/MONDO_0016983	Orphanet:263417|UMLS:C3715128	ordo_clinical_subtype
MONDO:0002329	biolink:Disease	testicular disorder	A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia.	NCIT:C26890|DOID:2519|MESH:D013733|ICD9:608.89|SCTID:64910008|UMLS:C0039584	mondo.json	testicular disease|disease of testis|disease or disorder of testis|testicular disorder|testis disease|disorder of testis|testis disorder|testis disease or disorder	http://purl.obolibrary.org/obo/MONDO_0002329	http://identifiers.org/mesh/D013733|DOID:2519|NCIT:C26890|http://identifiers.org/snomedct/64910008|UMLS:C0039584	
MONDO:0014321	biolink:Disease	premature ovarian failure 8	Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene.	UMLS:C3810367|OMIM:615723	mondo.json	POF8|STAG3 primary ovarian failure|premature ovarian failure 8|premature ovarian failure type 8|primary ovarian failure caused by mutation in STAG3	http://purl.obolibrary.org/obo/MONDO_0014321	https://omim.org/entry/615723|UMLS:C3810367	
NCBITaxon:2732004	biolink:OrganismalEntity	Varidnaviria		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2732004		
MONDO:0014320	biolink:Disease	Bosch-Boonstra-Schaaf optic atrophy syndrome	Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.	Orphanet:401777|UMLS:C3810363|OMIM:615722|ICD10CM:H47.2	mondo.json	BBSOAS|Bosch-Boonstra-Schaaf optic atrophy syndrome|optic atrophy-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0014320	UMLS:C3810363|Orphanet:401777|https://omim.org/entry/615722	ordo_disease
HGNC:11164	biolink:NamedThing	SNRPN			mondo.json		http://identifiers.org/hgnc/11164		
CHEBI:26708	biolink:ChemicalSubstance	sodium atom			mondo.json	sodium|11Na|Na|natrium|Natrium|sodio|sodium	http://purl.obolibrary.org/obo/CHEBI_26708		
MONDO:0002347	biolink:Disease	barbiturate dependence	A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance.	ICD9:304.13|DOID:2575|ICD9:304.11|SCTID:231472009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002347	DOID:2575|http://identifiers.org/snomedct/231472009	
CHEBI:26712	biolink:ChemicalSubstance	sodium molecular entity			mondo.json	sodium compounds|sodium molecular entities	http://purl.obolibrary.org/obo/CHEBI_26712		
HGNC:23159	biolink:NamedThing	ALG2			mondo.json		http://identifiers.org/hgnc/23159		
MONDO:0002348	biolink:Disease	obsolete chondrodysplasia punctata			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002348		
CHEBI:26714	biolink:ChemicalSubstance	sodium salt	Any alkali metal salt having sodium(1+) as the cation.		mondo.json	sodium salts|Natriumsalz|Natriumsalze	http://purl.obolibrary.org/obo/CHEBI_26714		
HGNC:23157	biolink:NamedThing	ALG6			mondo.json		http://identifiers.org/hgnc/23157		
MONDO:0002349	biolink:Disease	obsolete agammaglobulinemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002349		
MONDO:0002343	biolink:Disease	splenic hemangioma	A hemangioma arising from the spleen.	DOID:256|UMLS:C0685201|SCTID:93472004|NCIT:C8541	mondo.json	angioma of the spleen|hemangioma of the spleen|splenic hemangioma|splenic angioma|spleen angioma|spleen hemangioma|angioma of spleen|hemangioma of spleen	http://purl.obolibrary.org/obo/MONDO_0002343	DOID:256|UMLS:C0685201|http://identifiers.org/snomedct/93472004|NCIT:C8541	
MONDO:0002344	biolink:Disease	obsolete corneal dystrophy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002344		
CHEBI:26710	biolink:ChemicalSubstance	sodium chloride	An inorganic chloride salt having sodium(1+) as the counterion.		mondo.json	Kochsalz|Natriumchlorid|rock salt|natrii chloridum|NaCl|sodium chloride|common salt|table salt|cloruro sodico|halite|salt|chlorure de sodium	http://purl.obolibrary.org/obo/CHEBI_26710		
MONDO:0002345	biolink:Disease	cervicitis	An acute or chronic inflammatory process that affects the cervix. Causes include sexually transmitted diseases and bacterial infections. Clinical manifestations include abnormal vaginal bleeding and vaginal discharge.	ICD9:616.0|MESH:D002575|HP:0030160|DOID:2568|SCTID:37610005|NCIT:C26716	mondo.json	cervicitis|cervicitis (disease)	http://purl.obolibrary.org/obo/MONDO_0002345	DOID:2568|NCIT:C26716|http://identifiers.org/mesh/D002575|http://identifiers.org/snomedct/37610005	
MONDO:0002346	biolink:Disease	obsolete malignant histiocytic disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002346		
HGNC:23151	biolink:NamedThing	FERMT3			mondo.json		http://identifiers.org/hgnc/23151		
MONDO:0002340	biolink:Disease	tactile epilepsy		UMLS:C0393724|SCTID:230449001|NCIT:C4687|DOID:2550	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002340	NCIT:C4687|UMLS:C0393724|http://identifiers.org/snomedct/230449001|DOID:2550	
GO:0048515	biolink:NamedThing	spermatid differentiation	The process whose specific outcome is the progression of a spermatid over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell.		mondo.json	spermatid cell differentiation	http://purl.obolibrary.org/obo/GO_0048515		
MONDO:0002341	biolink:Disease	granulomatous angiitis	Inflammation of the arteries that is characterized by the presence of granulomas.	UMLS:C0018202|DOID:2555|MESH:D020293|NCIT:C34653	mondo.json	Granulomatous arteritis	http://purl.obolibrary.org/obo/MONDO_0002341	NCIT:C34653|UMLS:C0018202|DOID:2555	
MONDO:0014309	biolink:Disease	obesity due to CEP19 deficiency		OMIM:615703|Orphanet:397615|UMLS:C3810324	mondo.json	morbid obesity and spermatogenic failure|MOSPGF	http://purl.obolibrary.org/obo/MONDO_0014309	https://omim.org/entry/615703|Orphanet:397615|UMLS:C3810324	ordo_disease
GO:0048514	biolink:NamedThing	blood vessel morphogenesis	The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood.		mondo.json		http://purl.obolibrary.org/obo/GO_0048514		
MONDO:0002342	biolink:Disease	chondromalacia	Pathological processes involving the chondral tissue (cartilage).	ICD10CM:M94.2|UMLS:C0085700|DOID:2557|SCTID:63198006|ICD9:733.92	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002342	UMLS:C0085700|http://identifiers.org/snomedct/63198006|http://purl.bioontology.org/ontology/ICD10CM/M94.2|DOID:2557	
MONDO:0014308	biolink:Disease	familial temporal lobe epilepsy 6	A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26.	UMLS:C3810320|OMIM:615697|DOID:0060749	mondo.json	epilepsy, familial temporal lobe, 6|ETL6|familial temporal lobe epilepsy type 6	http://purl.obolibrary.org/obo/MONDO_0014308	https://omim.org/entry/615697|DOID:0060749|UMLS:C3810320	
GO:0048513	biolink:NamedThing	animal organ development	Development of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions.		mondo.json	development of an organ|organogenesis	http://purl.obolibrary.org/obo/GO_0048513		
GO:0048512	biolink:NamedThing	circadian behavior	The specific behavior of an organism that recurs with a regularity of approximately 24 hours.		mondo.json	circadian rhythm behavior	http://purl.obolibrary.org/obo/GO_0048512		
GO:0048511	biolink:NamedThing	rhythmic process	Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism.		mondo.json	rhythm	http://purl.obolibrary.org/obo/GO_0048511		
MONDO:0016977	biolink:Disease	moderately-differentiated thymic neuroendocrine carcinoma		Orphanet:263335|UMLS:CN202279	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016977	Orphanet:263335|UMLS:CN202279	ordo_histopathological_subtype
MONDO:0014314	biolink:Disease	sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome		Orphanet:397927|OMIM:615709|UMLS:C3810343	mondo.json	SAVA|sacral agenesis with vertebral anomalies	http://purl.obolibrary.org/obo/MONDO_0014314	https://omim.org/entry/615709|Orphanet:397927|UMLS:C3810343	ordo_malformation_syndrome
HGNC:35126	biolink:NamedThing	BHLHA9			mondo.json		http://identifiers.org/hgnc/35126		
NCBITaxon:1933264	biolink:OrganismalEntity	California encephalitis orthobunyavirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1933264		
MONDO:0014313	biolink:Disease	autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity		OMIM:615707|Orphanet:437552|UMLS:C3810342	mondo.json	IMD20|CD16 deficiency|immunodeficiency type 20|immunodeficiency 20|autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity	http://purl.obolibrary.org/obo/MONDO_0014313	https://omim.org/entry/615707|UMLS:C3810342|Orphanet:437552	ordo_disease
MONDO:0016978	biolink:Disease	poorly differentiated thymic neuroendocrine carcinoma		Orphanet:263339|UMLS:CN202280|SCTID:717921000	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016978	http://identifiers.org/snomedct/717921000|Orphanet:263339|UMLS:CN202280	ordo_histopathological_subtype
MONDO:0016979	biolink:Disease	MRCS syndrome	MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.	Orphanet:263347	mondo.json	microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome	http://purl.obolibrary.org/obo/MONDO_0016979	Orphanet:263347	ordo_disease
MONDO:0014312	biolink:Disease	auriculocondylar syndrome 3		OMIM:615706|UMLS:C3810332	mondo.json	Auriculocondylar syndrome type 3|ARCND3|AURICULOCONDYLAR syndrome 3|Auriculocondylar syndrome 3	http://purl.obolibrary.org/obo/MONDO_0014312	https://omim.org/entry/615706|UMLS:C3810332	
HGNC:11179	biolink:NamedThing	SOD1			mondo.json		http://identifiers.org/hgnc/11179		
MONDO:0014311	biolink:Disease	autosomal recessive spinocerebellar ataxia 15	Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene.	UMLS:C3810326|OMIM:615705|DOID:0080057|Orphanet:404499	mondo.json	autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to KIAA0226 deficiency|RUBCN autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome|SCAR15|Salih ataxia|spinocerebellar ataxia, autosomal recessive type 15|RUBCN autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome|autosomal recessive spinocerebellar ataxia type 15|autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency|spinocerebellar ataxia, autosomal recessive 15|autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in RUBCN|autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in RUBCN	http://purl.obolibrary.org/obo/MONDO_0014311	https://omim.org/entry/615705|Orphanet:404499|UMLS:C3810326|DOID:0080057	ordo_disease
MONDO:0014318	biolink:Disease	hyperphosphatasia with intellectual disability syndrome 4	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene.	OMIM:615716|UMLS:C3810354	mondo.json	hyperphosphatasia with intellectual disability syndrome type 4|HPMRS4|hyperphosphatasia with mental retardation syndrome type 4|hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP3|hyperphosphatasia with mental retardation syndrome 4|PGAP3 hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia with intellectual disability syndrome 4|glycosylphosphatidylinositol biosynthesis defect 10	http://purl.obolibrary.org/obo/MONDO_0014318	https://omim.org/entry/615716|UMLS:C3810354	
MONDO:0016973	biolink:Disease	obsolete thymoma type A			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016973		
MONDO:0016974	biolink:Disease	thymoma type B	An epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It includes thymoma type B1 which is a thymoma of low grade malignant potential, thymoma type B2 which is a thymoma of moderate malignancy, and thymoma type B3 which is also known as well differentiated thymic carcinoma.	NCIT:C7114|UMLS:C1328042|ICD10CM:D15.0|Orphanet:263317|DOID:3282|UMLS:CN202276	mondo.json	Dendritic cell thymoma|primary thymic epithelial tumor type B|epithelioid thymoma|dendritic cell thymoma|dendritic cell thymoma (disease)|primary thymic epithelial neoplasm type B|thymoma type B|plump cell thymoma	http://purl.obolibrary.org/obo/MONDO_0016974	Orphanet:263317|UMLS:CN202276|UMLS:C1328042|DOID:3282|NCIT:C7114	ordo_histopathological_subtype
MONDO:0014317	biolink:Disease	pancytopenia-developmental delay syndrome		OMIM:615715|Orphanet:401764|UMLS:C3810350	mondo.json	bone marrow failure syndrome 2|bone marrow failure syndrome type 2|BMFS2|Trilineage bone marrow failure-developmental delay syndrome|pancytopenia-developmental delay syndrome	http://purl.obolibrary.org/obo/MONDO_0014317	https://omim.org/entry/615715|UMLS:C3810350|Orphanet:401764	ordo_disease
GO:0048519	biolink:NamedThing	negative regulation of biological process	Any process that stops, prevents, or reduces the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule.		mondo.json	downregulation of biological process|negative regulation of physiological process|down regulation of biological process|inhibition of biological process|down-regulation of biological process	http://purl.obolibrary.org/obo/GO_0048519		
GO:0048518	biolink:NamedThing	positive regulation of biological process	Any process that activates or increases the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule.		mondo.json	positive regulation of physiological process|up-regulation of biological process|activation of biological process|upregulation of biological process|up regulation of biological process|stimulation of biological process	http://purl.obolibrary.org/obo/GO_0048518		
MONDO:0014316	biolink:Disease	Alzheimer disease 19	Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene.	UMLS:C3810349|OMIM:615711|DOID:0110051	mondo.json	Alzheimer disease 19|Alzheimer's disease type 19|Alzheimer disease caused by mutation in PLD3|Alzheimer disease type 19|Alzheimer disease 19, late-onset|Alzheimer disease 19 late onset|AD19|Alzheimer's disease 19|PLD3 Alzheimer disease	http://purl.obolibrary.org/obo/MONDO_0014316	DOID:0110051|https://omim.org/entry/615711|UMLS:C3810349	
MONDO:0016975	biolink:Disease	thymoma type AB	A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years.	UMLS:C1266092|ICDO:8582/1|DOID:3280|ICD10CM:D15.0|Orphanet:263324|NCIT:C6885|EFO:1000582	mondo.json	primary thymic epithelial neoplasm type AB|primary thymic epithelial tumor type AB|thymoma type AB|thymoma, mixed type|mixed type thymoma	http://purl.obolibrary.org/obo/MONDO_0016975	NCIT:C6885|Orphanet:263324|UMLS:C1266092|DOID:3280	ordo_histopathological_subtype
MONDO:0016976	biolink:Disease	well-differentiated thymic neuroendocrine carcinoma		SCTID:717922007|UMLS:CN202278|Orphanet:263331	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016976	http://identifiers.org/snomedct/717922007|Orphanet:263331|UMLS:CN202278	ordo_histopathological_subtype
MONDO:0014315	biolink:Disease	obsolete Mitchell-Riley syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0014315		
MONDO:0016970	biolink:Disease	partial trisomy of the long arm of chromosome 20		Orphanet:262995	mondo.json	partial duplication of chromosome 20q|partial trisomy of the long arm of chromosome type 20|partial duplication of the long arm of chromosome 20|partial trisomy of chromosome 20q	http://purl.obolibrary.org/obo/MONDO_0016970	Orphanet:262995	disease_grouping|ordo_group_of_disorders
MONDO:0016971	biolink:Disease	limb-girdle muscular dystrophy	Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.	UMLS:C0270950|Orphanet:263|NCIT:C84828|GARD:0006907|SCTID:78468005|UMLS:C0686353|MESH:D049288|DOID:11724	mondo.json	erb's muscular dystrophy|Leyden-Mbius muscular dystrophy|LGMD|limb-girdle muscular dystrophy|Leyden-Mobius muscular dystrophy|limb girdle muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0016971	DOID:11724|NCIT:C84828|Orphanet:263|http://identifiers.org/snomedct/78468005|UMLS:C0686353|UMLS:C0270950|http://identifiers.org/mesh/D049288	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0016972	biolink:Disease	partial duplication of the long arm of chromosome 22		Orphanet:263004	mondo.json	partial duplication of chromosome 22q|partial trisomy of the long arm of chromosome 22|partial duplication of the long arm of chromosome type 22|partial trisomy of chromosome 22q	http://purl.obolibrary.org/obo/MONDO_0016972	Orphanet:263004	disease_grouping|ordo_group_of_disorders
MONDO:0014310	biolink:Disease	hereditary sclerosing poikiloderma with tendon and pulmonary involvement	Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.	UMLS:C3810325|OMIM:615704|GARD:0013218|Orphanet:221043	mondo.json	POIKTMP syndrome|hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis|poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement|poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis|hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome|POIKTMP	http://purl.obolibrary.org/obo/MONDO_0014310	https://omim.org/entry/615704|Orphanet:221043|UMLS:C3810325	ordo_disease
MONDO:0004977	biolink:Disease	angioimmunoblastic T-cell lymphoma	A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes and extranodal sites. The clinical course is typically aggressive.	EFO:0000255|UMLS:C0020981|Orphanet:86886|MedDRA:10002449|ICDO:9767/1|ONCOTREE:AITL|GARD:11973|DOID:0111147|NCIT:C7528|ICD10CM:C86.5|ICD9:202.70|MESH:D007119|SCTID:413537009|GARD:0011973|ICDO:9705/3	mondo.json	AILT|angioimmunoblastic T-cell lymphoma|AITL|immunoblastic lymphadenopathy|lymphogranulomatosis X|AILD|angioimmunoblastic lymphadenopathy|T-cell lymphoma, AILD type|angioimmunoblastic lymphadenopathy with Dysproteinemia|angioimmunoblastic lymphadenopathy type T-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0004977	Orphanet:86886|DOID:0111147|http://identifiers.org/mesh/D007119|NCIT:C7528|http://purl.bioontology.org/ontology/ICD10CM/C86.5|http://identifiers.org/snomedct/413537009|UMLS:C0020981	gard_rare|ordo_disease
MONDO:0002314	biolink:Disease	chronic conjunctivitis	Conjunctivitis that is persistent and long-standing.	ICD9:372.10|DOID:2475|SCTID:73762008|ICD10CM:H10.4|ICD9:372.1|UMLS:C0155145|NCIT:C35197	mondo.json	conjunctivitis (disease), chronic|chronic conjunctivitis|chronic conjunctivitis, unspecified|chronic conjunctivitis (disease)	http://purl.obolibrary.org/obo/MONDO_0002314	UMLS:C0155145|DOID:2475|http://identifiers.org/snomedct/73762008|http://purl.bioontology.org/ontology/ICD10CM/H10.4|NCIT:C35197	
MONDO:0004976	biolink:Disease	amyotrophic lateral sclerosis	Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.	MedDRA:10002026|Orphanet:803|NIFSTD:birnlex_12566|EFO:0000253|DOID:332|GARD:0005786|KEGG:05014|UMLS:C0002736|MESH:D000690|SCTID:86044005|ICD10CM:G12.21|ICD9:335.20|NCIT:C34373	mondo.json	Lou Gehrig's disease|amyotrophic lateral sclerosis|motor neuron disease, bulbar|Lou Gehrig disease|Charcot disease|ALS	http://purl.obolibrary.org/obo/MONDO_0004976	http://identifiers.org/mesh/D000690|Orphanet:803|http://identifiers.org/snomedct/86044005|UMLS:C0002736|DOID:332|NCIT:C34373|http://purl.bioontology.org/ontology/ICD10CM/G12.21	ordo_disease
NCBITaxon:10232	biolink:OrganismalEntity	Acanthocephala <thorny-headed worms>		GC_ID:1	mondo.json	thorny-headed worms|thorny-headed worms|Acanthocephala|acanthocephalans|spiny-headed worms	http://purl.obolibrary.org/obo/NCBITaxon_10232		
MONDO:0002315	biolink:Disease	obsolete hereditary spastic paraplegia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002315		
MONDO:0004979	biolink:Disease	asthma	A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.	GARD:0010246|EFO:0000270|DOID:2841|ICD9:493|NCIT:C28397|ICD9:493.9|UMLS:C0004096|ICD9:493.81|HP:0002099|ICD10CM:J45|MESH:D001249|SCTID:31387002|KEGG:05310	mondo.json	chronic obstructive asthma|chronic obstructive asthma with acute exacerbation|chronic obstructive asthma with status asthmaticus|bronchial hyperreactivity|exercise induced asthma|exercise-induced asthma	http://purl.obolibrary.org/obo/MONDO_0004979	NCIT:C28397|http://purl.bioontology.org/ontology/ICD10CM/J45|DOID:2841|UMLS:C0004096|http://identifiers.org/snomedct/31387002|http://identifiers.org/mesh/D001249	
MONDO:0002316	biolink:Disease	motor peripheral neuropathy	Inflammation or degeneration of the peripheral motor nerves.	MESH:D015417|DOID:2477|UMLS:C0235025|SCTID:95663000|ICD9:356.9|NCIT:C75467|NCIT:C3500	mondo.json	HSMN|HSMN - hereditary sensory and motor neuropathy|neuropathic muscular atrophy|peripheral motor neuropathy|hereditary motor and sensory neuropathy	http://purl.obolibrary.org/obo/MONDO_0002316	DOID:2477|http://identifiers.org/snomedct/95663000|NCIT:C3500	
MONDO:0002317	biolink:Disease	central nervous system origin vertigo	An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (ear, inner); vestibular nerve; brainstem; or cerebral cortex. Lesions in the temporal lobe and parietal lobe may be associated with focal seizures that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)	DOID:2479|UMLS:C0155503|SCTID:38403006|ICD9:386.2	mondo.json	vertigo of central origin|central vestibular vertigo	http://purl.obolibrary.org/obo/MONDO_0002317	DOID:2479|UMLS:C0155503|http://identifiers.org/snomedct/38403006	
MONDO:0004978	biolink:Disease	obsolete aortic stenosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004978		
HGNC:25786	biolink:NamedThing	REEP1			mondo.json		http://identifiers.org/hgnc/25786		
MONDO:0002310	biolink:Disease	anterior dislocation of lens		UMLS:C0155372|ICD9:379.33|DOID:2460|SCTID:37283009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002310	http://identifiers.org/snomedct/37283009|DOID:2460|UMLS:C0155372	
MONDO:0004973	biolink:Disease	adenosquamous lung carcinoma	An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells.	DOID:4829|SCTID:707405009|NCIT:C9133|UMLS:C0279557|ONCOTREE:LUAS|ICD9:162.9|EFO:0000233	mondo.json	adenosquamous cell lung carcinoma|adenosquamous lung carcinoma|adenosquamous lung cancer|lung adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0004973	http://identifiers.org/snomedct/707405009|DOID:4829|NCIT:C9133|UMLS:C0279557	
MONDO:0002311	biolink:Disease	retinal vascular disorder	Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage.	UMLS:C0154833|ICD9:362.13|DOID:2462|NCIT:C35170|SCTID:57534004	mondo.json	retina circulation disorder|retinal vascular disorder	http://purl.obolibrary.org/obo/MONDO_0002311	http://identifiers.org/snomedct/57534004|DOID:2462|UMLS:C0154833|NCIT:C35170	
MONDO:0004972	biolink:Disease	adenoma	A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.	MESH:D000236|ICDO:8140/0|UMLS:C0001430|SCTID:443416007|DOID:657|NCIT:C2855|EFO:0000232	mondo.json	adenomas|adenoma|adenoma, benign|acinic cell adenoma|acinar cell adenoma (morphologic abnormality)|acinar cell adenoma	http://purl.obolibrary.org/obo/MONDO_0004972	http://identifiers.org/snomedct/443416007|NCIT:C2855|http://identifiers.org/mesh/D000236|UMLS:C0001430|DOID:657	
MONDO:0004975	biolink:Disease	Alzheimer disease	A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.	ICD9:331.0|HP:0002511|NCIT:C2866|KEGG:05010|ICD9:290.1|GARD:0000632|ICD10CM:G30|MESH:D000544|DOID:10652|EFO:0000249|NIFSTD:birnlex_2092|UMLS:C0002395|SCTID:142811000119104|Orphanet:238616|OMIM:104300	mondo.json	AD|Alzheimer dementia|presenile and senile dementia|Alzheimers dementia|Alzheimer disease, familial|Alzheimer's disease|Alzheimer disease|Alzheimers disease|Alzheimer's dementia	http://purl.obolibrary.org/obo/MONDO_0004975	https://omim.org/entry/104300|http://purl.bioontology.org/ontology/ICD10CM/G30|DOID:10652|http://identifiers.org/snomedct/142811000119104|UMLS:C0002395|NCIT:C2866|http://identifiers.org/mesh/D000544|Orphanet:238616	
MONDO:0002312	biolink:Disease	opportunistic mycosis	A mycosis that arises from infection in an immunologically compromised host.	ICD9:117.9|DOID:2473|UMLS:C0029119|ICD9:118|SCTID:78999002	mondo.json	opportunistic systemic mycoses|opportunistic mycoses	http://purl.obolibrary.org/obo/MONDO_0002312	DOID:2473|UMLS:C0029119|http://identifiers.org/snomedct/78999002	
MONDO:0002313	biolink:Disease	vernal conjunctivitis	Inflammation of the cornea that is seasonal in nature.	NCIT:C34508|DOID:2474|UMLS:C0009773|ICD10CM:H10.44|SCTID:318316003|ICD9:372.13	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002313	UMLS:C0009773|NCIT:C34508|DOID:2474|http://purl.bioontology.org/ontology/ICD10CM/H10.44|http://identifiers.org/snomedct/318316003	
MONDO:0004974	biolink:Disease	adrenal gland pheochromocytoma	A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present.	OMIM:171300|ICDO:8700/0|DOID:0050892|EFO:0000239|NCIT:C3326	mondo.json	adrenal medullary pheochromocytoma|adrenal gland chromaffin paraganglioma|pheochromocytoma (adrenal)|Intraadrenal paraganglioma|adrenal pheochromocytoma|adrenal gland paraganglioma|adrenal gland pheochromocytoma|adrenal medullary paraganglioma|PCC|pheochromocytoma|chromaffin paraganglioma of the adrenal gland|adrenal gland Chromaffinoma	http://purl.obolibrary.org/obo/MONDO_0004974	DOID:0050892|NCIT:C3326	
NCBITaxon:10239	biolink:OrganismalEntity	Viruses		GC_ID:1	mondo.json	viruses|Vira|Viridae	http://purl.obolibrary.org/obo/NCBITaxon_10239		
HGNC:25781	biolink:NamedThing	ARMC5			mondo.json		http://identifiers.org/hgnc/25781		
MONDO:0004971	biolink:Disease	adenoid cystic carcinoma	A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic.	GARD:0005743|ICDO:8200/3|MESH:D003528|ONCOTREE:ACYC|UMLS:C0010606|NCIT:C2970|DOID:0080202|EFO:0000231	mondo.json	cribriform carcinoma|adenoid cystic carcinoma|adenocystic carcinoma|adenoid cystic cancer|cylindroid adenocarcinoma|cylindroma	http://purl.obolibrary.org/obo/MONDO_0004971	UMLS:C0010606|http://identifiers.org/mesh/D003528|DOID:0080202|NCIT:C2970	gard_rare
MONDO:0004970	biolink:Disease	adenocarcinoma	A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma.	SCTID:443961001|CSP:2000-0386|UMLS:C0001418|ONCOTREE:ADNOS|EFO:0000228|DOID:299|ICDO:8140/3|MESH:D000230|NCIT:C2852	mondo.json	adenocarcinomas|adenocarcinoma NOS (morphologic abnormality)|adenocarcinoma, malignant|adenocarcinoma, no subtype (morphologic abnormality)|adenocarcinoma|ADNOS	http://purl.obolibrary.org/obo/MONDO_0004970	http://identifiers.org/snomedct/443961001|NCIT:C2852|DOID:299|http://identifiers.org/mesh/D000230|UMLS:C0001418	
MONDO:0016959	biolink:Disease	partial duplication of the long arm of chromosome 8		Orphanet:262896	mondo.json	partial duplication of chromosome 8q|partial duplication of the long arm of chromosome type 8|partial trisomy of chromosome 8q|partial trisomy of the long arm of chromosome 8	http://purl.obolibrary.org/obo/MONDO_0016959	Orphanet:262896	disease_grouping|ordo_group_of_disorders
GO:0048523	biolink:NamedThing	negative regulation of cellular process	Any process that stops, prevents, or reduces the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level.		mondo.json	downregulation of cellular process|down regulation of cellular process|inhibition of cellular process|negative regulation of cellular physiological process|down-regulation of cellular process	http://purl.obolibrary.org/obo/GO_0048523		
GO:0048522	biolink:NamedThing	positive regulation of cellular process	Any process that activates or increases the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level.		mondo.json	up regulation of cellular process|stimulation of cellular process|activation of cellular process|up-regulation of cellular process|upregulation of cellular process|positive regulation of cellular physiological process	http://purl.obolibrary.org/obo/GO_0048522		
HGNC:25784	biolink:NamedThing	DCAF17			mondo.json		http://identifiers.org/hgnc/25784		
GO:0048521	biolink:NamedThing	negative regulation of behavior	Any process that stops, prevents, or reduces the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli.		mondo.json	inhibition of behavior|down-regulation of behavior|downregulation of behavior|down regulation of behavior	http://purl.obolibrary.org/obo/GO_0048521		
GO:0048520	biolink:NamedThing	positive regulation of behavior	Any process that activates or increases the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli.		mondo.json	upregulation of behavior|up regulation of behavior|stimulation of behavior|up-regulation of behavior|activation of behavior	http://purl.obolibrary.org/obo/GO_0048520		
MONDO:0014303	biolink:Disease	hereditary spastic paraplegia 64	An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.	SCTID:726609005|UMLS:C3810289|OMIM:615683|Orphanet:401810|UMLS:C4511960|DOID:0110815	mondo.json	spastic paraplegia 64, autosomal recessive|hereditary spastic paraplegia type 64|autosomal recessive spastic paraplegia type 64|SPG64|autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1|ENTPD1 autosomal recessive complex spastic paraplegia|autosomal recessive spastic paraplegia 64	http://purl.obolibrary.org/obo/MONDO_0014303	https://omim.org/entry/615683|DOID:0110815|UMLS:C4511960|UMLS:C3810289|Orphanet:401810|http://identifiers.org/snomedct/726609005	ordo_disease
MONDO:0016966	biolink:Disease	partial trisomy of the long arm of chromosome 16		GARD:0005316|UMLS:CN036363|Orphanet:262959|MESH:C538042	mondo.json	partial duplication of chromosome 16q|chromosome 16q duplication|partial trisomy 16q|16q trisomy|trisomy 16q|partial duplication of the long arm of chromosome 16|partial trisomy of the long arm of chromosome type 16|16q duplication|Duplication 16q|partial trisomy of chromosome 16q	http://purl.obolibrary.org/obo/MONDO_0016966	UMLS:CN036363|http://identifiers.org/mesh/C538042|Orphanet:262959	gard_rare|ordo_group_of_disorders|disease_grouping
MONDO:0016967	biolink:Disease	partial duplication of the long arm of chromosome 17		UMLS:CN035860|Orphanet:262968|GARD:0005320	mondo.json	chromosome 17q duplication|partial trisomy 17q|trisomy 17q|17q trisomy|partial duplication of chromosome 17q|Duplication 17q|17q duplication|partial duplication of the long arm of chromosome type 17|partial trisomy of the long arm of chromosome 17|partial trisomy of chromosome 17q	http://purl.obolibrary.org/obo/MONDO_0016967	UMLS:CN035860|Orphanet:262968	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0014302	biolink:Disease	hereditary spastic paraplegia 62	Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.	OMIM:615681|SCTID:765045003|UMLS:C4284588|Orphanet:401785|DOID:0110813	mondo.json	SPG62|spastic paraplegia 62, autosomal recessive|ERLIN1 autosomal recessive pure spastic paraplegia|hereditary spastic paraplegia type 62|autosomal recessive pure spastic paraplegia caused by mutation in ERLIN1|autosomal recessive spastic paraplegia type 62|autosomal recessive spastic paraplegia 62	http://purl.obolibrary.org/obo/MONDO_0014302	UMLS:C4284588|DOID:0110813|https://omim.org/entry/615681|http://identifiers.org/snomedct/765045003|Orphanet:401785	ordo_disease
MONDO:0016968	biolink:Disease	partial trisomy of the long arm of chromosome 18		UMLS:C0809935|GARD:0005324|Orphanet:262977|MESH:C538308	mondo.json	partial duplication of chromosome 18q|chromosome 18q duplication|partial duplication of the long arm of chromosome 18|partial trisomy of the long arm of chromosome type 18|18q partial trisomy|trisomy 18q|18q trisomy|partial trisomy of chromosome 18q|Duplication 18q|18q duplication	http://purl.obolibrary.org/obo/MONDO_0016968	UMLS:C0809935|http://identifiers.org/mesh/C538308|Orphanet:262977	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0014301	biolink:Disease	dowling-degos disease 3		UMLS:C3810286|OMIM:615674	mondo.json	DDD3|Dowling-Degos disease 3	http://purl.obolibrary.org/obo/MONDO_0014301	https://omim.org/entry/615674|UMLS:C3810286	
MONDO:0016969	biolink:Disease	partial duplication of the long arm of chromosome 19		GARD:0005326|MESH:C538311|Orphanet:262986|UMLS:C0795871	mondo.json	19q duplication|Duplication 19q|partial duplication of chromosome 19q|partial duplication of the long arm of chromosome type 19|chromosome 19q duplication|partial trisomy of the long arm of chromosome 19|partial trisomy 19q|19q trisomy|trisomy 19q|partial trisomy of chromosome 19q	http://purl.obolibrary.org/obo/MONDO_0016969	UMLS:C0795871|Orphanet:262986|http://identifiers.org/mesh/C538311	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0014300	biolink:Disease	proximal myopathy with extrapyramidal signs	Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.	OMIM:615673|UMLS:C3810285|DOID:0111335|GARD:0012978|Orphanet:401768	mondo.json	MPXPS|myopathy with extrapyramidal signs	http://purl.obolibrary.org/obo/MONDO_0014300	https://omim.org/entry/615673|UMLS:C3810285|Orphanet:401768|DOID:0111335	ordo_disease
MONDO:0016962	biolink:Disease	obsolete partial duplication of the long arm of chromosome 11			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016962		
MONDO:0014307	biolink:Disease	Dowling-Degos disease 4	Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene.	UMLS:C3810313|OMIM:615696	mondo.json	Dowling-Degos disease caused by mutation in POGLUT1|Dowling-Degos disease 4|Dowling-Degos disease type 4|POGLUT1 Dowling-Degos disease|DDD4	http://purl.obolibrary.org/obo/MONDO_0014307	https://omim.org/entry/615696|UMLS:C3810313	
MONDO:0014306	biolink:Disease	vasculitis due to ADA2 deficiency	Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.	OMIM:615688|UMLS:C0031036|GARD:0012383|Orphanet:404553	mondo.json	polyarteritis nodosa, childhood-onset|DADA2|vasculitis due to DADA2|adenosine deaminase 2 deficiency|vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome|childhood-onset polyarteritis nodosa|ADA2 deficiency|PAN	http://purl.obolibrary.org/obo/MONDO_0014306	Orphanet:404553|https://omim.org/entry/615688	ordo_disease
MONDO:0016963	biolink:Disease	obsolete partial duplication of the long arm of chromosome 13			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016963		
MONDO:0014305	biolink:Disease	hereditary spastic paraplegia 63	An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.	DOID:0110814|OMIM:615686|UMLS:C3810295|SCTID:726610000|Orphanet:401805	mondo.json	autosomal recessive spastic paraplegia 63|spastic paraplegia 63|autosomal recessive complex spastic paraplegia caused by mutation in AMPD2|spastic paraplegia 63, autosomal recessive|autosomal recessive spastic paraplegia type 63|hereditary spastic paraplegia type 63|SPG63|AMPD2 autosomal recessive complex spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0014305	http://identifiers.org/snomedct/726610000|https://omim.org/entry/615686|DOID:0110814|UMLS:C3810295|Orphanet:401805	ordo_disease
MONDO:0016964	biolink:Disease	partial duplication of the long arm of chromosome 14		GARD:0005311|Orphanet:262941	mondo.json	14q trisomy|trisomy 14q|partial trisomy of chromosome 14q|Duplication 14q|14q duplication|partial trisomy of the long arm of chromosome 14|partial duplication of chromosome 14q|partial duplication of the long arm of chromosome type 14|chromosome 14q duplication|partial trisomy 14q	http://purl.obolibrary.org/obo/MONDO_0016964	Orphanet:262941	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0014304	biolink:Disease	hereditary spastic paraplegia 61	A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.	DOID:0110812|OMIM:615685|Orphanet:401780|UMLS:C3810294|UMLS:C4511962|SCTID:726611001	mondo.json	autosomal recessive complex spastic paraplegia caused by mutation in ARL6IP1|spastic paraplegia 61, autosomal recessive|hereditary spastic paraplegia 61|SPG61|autosomal recessive spastic paraplegia type 61|hereditary spastic paraplegia type 61|ARL6IP1 autosomal recessive complex spastic paraplegia|autosomal recessive spastic paraplegia 61	http://purl.obolibrary.org/obo/MONDO_0014304	http://identifiers.org/snomedct/726611001|DOID:0110812|https://omim.org/entry/615685|UMLS:C4511962|UMLS:C3810294|Orphanet:401780	ordo_disease
MONDO:0016965	biolink:Disease	partial duplication of the long arm of chromosome 15	Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	GARD:0005314|UMLS:C0795858|Orphanet:262950|MESH:C538040	mondo.json	chromosome 15q duplication|partial trisomy 15q|partial trisomy of chromosome 15q|15q trisomy|trisomy 15q|partial trisomy of the long arm of chromosome 15|partial duplication of the long arm of chromosome type 15|partial duplication of chromosome 15q|Duplication 15q|15q duplication	http://purl.obolibrary.org/obo/MONDO_0016965	http://identifiers.org/mesh/C538040|Orphanet:262950|UMLS:C0795858	ordo_group_of_disorders|gard_rare|disease_grouping
HGNC:11140	biolink:NamedThing	SNCB			mondo.json		http://identifiers.org/hgnc/11140		
MONDO:0016960	biolink:Disease	partial trisomy of the long arm of chromosome 9		Orphanet:262905	mondo.json	partial duplication of the long arm of chromosome 9|partial duplication of chromosome 9q|partial trisomy of chromosome 9q|partial trisomy of the long arm of chromosome type 9	http://purl.obolibrary.org/obo/MONDO_0016960	Orphanet:262905	ordo_group_of_disorders|disease_grouping
MONDO:0016961	biolink:Disease	partial duplication of the long arm of chromosome 10		Orphanet:262914	mondo.json	partial trisomy of the long arm of chromosome 10|partial trisomy of chromosome 10q|partial duplication of chromosome 10q	http://purl.obolibrary.org/obo/MONDO_0016961	Orphanet:262914	ordo_group_of_disorders|disease_grouping
MONDO:0041959	biolink:Disease	fibrosis of bile duct		UMLS:C0520571|SCTID:48124008	mondo.json	biliary sclerosis|biliary duct fibrosis|fibrosis of bile duct	http://purl.obolibrary.org/obo/MONDO_0041959	UMLS:C0520571|http://identifiers.org/snomedct/48124008	
MONDO:0002307	biolink:Disease	blepharoconjunctivitis	Inflammation of both the eyelids and the conjunctiva.	ICD9:372.2|DOID:2456|UMLS:C0005743|ICD9:372.20|NCIT:C34430|ICD10CM:H10.5|SCTID:68659002	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002307	NCIT:C34430|http://identifiers.org/snomedct/68659002|DOID:2456|UMLS:C0005743|http://purl.bioontology.org/ontology/ICD10CM/H10.5	
MONDO:0004969	biolink:Disease	acute quadriplegic myopathy	Acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM.	EFO:0000225	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004969		
MONDO:0002308	biolink:Disease	giant papillary conjunctivitis	Conjunctivitis that is associated with contact lens wear, and which is characterized by giant papillae in the tarsal conjunctiva.	NCIT:C34507|DOID:2457|SCTID:231857004|UMLS:C0009769|GARD:0008445|ICD9:372.39	mondo.json	GPC	http://purl.obolibrary.org/obo/MONDO_0002308	UMLS:C0009769|NCIT:C34507|DOID:2457|http://identifiers.org/snomedct/231857004	gard_rare
MONDO:0002309	biolink:Disease	papillary conjunctivitis	Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva.	NCIT:C35616|DOID:2458|SCTID:416878008|UMLS:C0854165|ICD9:372.39	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002309	NCIT:C35616|http://identifiers.org/snomedct/416878008|UMLS:C0854165|DOID:2458	
HGNC:11142	biolink:NamedThing	SIK1			mondo.json		http://identifiers.org/hgnc/11142		
MONDO:0002325	biolink:Disease	tooth erosion, non-bacterial	Progressive loss of tooth tissue by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)	DOID:2498|ICD9:521.30|SCTID:82212003|ICD9:521.35|MESH:D014077|ICD9:521.34|ICD9:521.3|UMLS:C0040436	mondo.json	tooth erosion|localized erosion|generalized erosion	http://purl.obolibrary.org/obo/MONDO_0002325	UMLS:C0040436|http://identifiers.org/snomedct/82212003|DOID:2498|http://identifiers.org/mesh/D014077	
MONDO:0004988	biolink:Disease	breast adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the breast	DOID:3458|NCIT:C5214|EFO:0000304	mondo.json	adenocarcinoma of breast|adenocarcinoma of the breast|mammary adenocarcinoma|breast adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004988	DOID:3458|NCIT:C5214	
NCBITaxon:10242	biolink:OrganismalEntity	Orthopoxvirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_10242		
MONDO:0004987	biolink:Disease	urinary bladder neoplasm	A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003	UMLS:C0005695|NCIT:C2901|EFO:0000294|SCTID:126885006|ICD9:239.4	mondo.json	urinary bladder neoplasm|tumor of the bladder|tumor of bladder|tumor of urinary bladder|neoplasm of the urinary bladder|urinary bladder tumors|urinary bladder neoplasms|urinary bladder neoplasm (disease)|neoplasm of the bladder|neoplasm of bladder|tumor of the urinary bladder|bladder tumor|neoplasm of urinary bladder|urinary bladder tumor|bladder tumors|bladder neoplasm	http://purl.obolibrary.org/obo/MONDO_0004987	UMLS:C0005695|NCIT:C2901|http://identifiers.org/snomedct/126885006	
NCBITaxon:10243	biolink:OrganismalEntity	Cowpox virus		GC_ID:1	mondo.json	CPXV	http://purl.obolibrary.org/obo/NCBITaxon_10243		
HGNC:25799	biolink:NamedThing	GUF1			mondo.json		http://identifiers.org/hgnc/25799		
MONDO:0002326	biolink:Disease	alcohol-induced mental disorder		ICD9:291.89|DOID:251|ICD9:291.8	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002326	DOID:251	
NCBITaxon:10244	biolink:OrganismalEntity	Monkeypox virus		GC_ID:1	mondo.json	monkey pox|monkeypox|monkey pox virus	http://purl.obolibrary.org/obo/NCBITaxon_10244		
MONDO:0002327	biolink:Disease	intracranial cavernous angioma	A cavernous hemangioma arising from the brain and meninges.	SCTID:445513004|NCIT:C5432|UMLS:C1334237|DOID:2516	mondo.json	intracranial cavernous angioma|intracranial cavernoma|intracranial cavernous hemangioma	http://purl.obolibrary.org/obo/MONDO_0002327	http://identifiers.org/snomedct/445513004|DOID:2516|NCIT:C5432|UMLS:C1334237	
UBERON:0013581	biolink:AnatomicalEntity	metapodium bone 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013581		
MONDO:0004989	biolink:Disease	breast carcinoma	A carcinoma that arises from epithelial cells of the breast	DOID:3459|EFO:0000305|NCIT:C4872|UMLS:C0678222|SCTID:254838004	mondo.json	mammary carcinoma|carcinoma of the breast|breast carcinoma|breast cancer, NOS|cancer of breast|cancer of the breast|carcinoma of breast|breast cancer|cancer, breast	http://purl.obolibrary.org/obo/MONDO_0004989	DOID:3459|UMLS:C0678222|http://identifiers.org/snomedct/254838004|NCIT:C4872	
MONDO:0002328	biolink:Disease	intracranial hemangioma	A hemangioma arising from the brain and meninges.	ICD9:228.02|UMLS:C0154050|SCTID:93468003|DOID:2517|ICD10CM:D18.02|NCIT:C3633	mondo.json	hemangioma of intracranial structure|intracranial hemangioma|hemangioma of the intracranial structure|angioma of the intracranial structure|hemangioma of brain|hemangioma of intracranial structures|intracranial structure hemangioma|brain hemangioma|angioma of intracranial structure|intracranial angioma	http://purl.obolibrary.org/obo/MONDO_0002328	http://purl.bioontology.org/ontology/ICD10CM/D18.02|http://identifiers.org/snomedct/93468003|DOID:2517|UMLS:C0154050|NCIT:C3633	
NCBITaxon:10245	biolink:OrganismalEntity	Vaccinia virus		GC_ID:1	mondo.json	vaccinia virus VV	http://purl.obolibrary.org/obo/NCBITaxon_10245		
MONDO:0004984	biolink:Disease	basal-like breast carcinoma	A biologic subset of breast carcinoma defined by high expression of genes characteristic of basal epithelial cells, including KRT5 and KRT17, annexin 8, CX3CL1, and TRIM29, and usually by lack of expression of the estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). It is the most common subtype of breast cancer associated with BRCA1 mutations, and is associated with a poor prognosis.	NCIT:C53558|EFO:0000281|UMLS:C3642347	mondo.json	basal-like breast cancer|basal-like breast carcinoma|basal-like subtype of breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0004984	UMLS:C3642347|NCIT:C53558	
MONDO:0002321	biolink:Disease	sensory peripheral neuropathy	Inflammation or degeneration of the sensory nerves.	ICD9:356.9|DOID:2491|UMLS:C0151313|NCIT:C3501|SCTID:95662005|ICD9:356.2	mondo.json	peripheral sensory neuropathy|sensory nerve peripheral neuropathy|peripheral neuropathy of sensory nerve|sensory neuropathy	http://purl.obolibrary.org/obo/MONDO_0002321	DOID:2491|NCIT:C3501|http://identifiers.org/snomedct/95662005|UMLS:C0151313	
HP:0200000	biolink:PhenotypicFeature	Dysharmonic bone age	Different levels of maturation of different bones.	UMLS:C4020918	mondo.json	Dysharmonic skeletal maturation	http://purl.obolibrary.org/obo/HP_0200000		
MONDO:0002322	biolink:Disease	angiodysplasia	Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia.	ICD9:537.83|DOID:2494|UMLS:C0085411|MESH:D016888|SCTID:90858003	mondo.json	angiodysplasia of stomach and duodenum with hemorrhage	http://purl.obolibrary.org/obo/MONDO_0002322	http://identifiers.org/snomedct/90858003|DOID:2494|http://identifiers.org/mesh/D016888|UMLS:C0085411	
MONDO:0004983	biolink:Disease	spermatogenic failure	A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa.	OMIMPS:258150|DOID:0111910	mondo.json	spermatogenic failure	http://purl.obolibrary.org/obo/MONDO_0004983	DOID:0111910|https://omim.org/phenotypicSeries/PS258150	
MONDO:0004986	biolink:Disease	urinary bladder carcinoma	A carcinoma that arises from epithelial cells of the urinary bladder	HP:0002862|NCIT:C4912|SCTID:255108000|UMLS:C0699885|EFO:0000292|DOID:4007	mondo.json	urinary bladder cancer|carcinoma bladder|carcinoma of urinary bladder|cancer of the urinary bladder|cancer of urinary bladder|bladder carcinoma|carcinoma of the urinary bladder|cancer of the bladder|bladder cancer|urinary bladder carcinoma|cancer of bladder|carcinoma of the bladder|carcinoma of bladder	http://purl.obolibrary.org/obo/MONDO_0004986	NCIT:C4912|DOID:4007|http://identifiers.org/snomedct/255108000|UMLS:C0699885	
MONDO:0002323	biolink:Disease	cherry hemangioma	A capillary hemangioma of the skin, presenting as a red papular lesion.	DOID:2495|SCTID:5050001|NCIT:C4390|UMLS:C0343082	mondo.json	cherry hemangioma|Senile angioma|Senile hemangioma|Senile naevus of skin|cherry angioma	http://purl.obolibrary.org/obo/MONDO_0002323	DOID:2495|NCIT:C4390|http://identifiers.org/snomedct/5050001|UMLS:C0343082	
MONDO:0004985	biolink:Disease	bipolar disorder	A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression.	NCIT:C34423|ICD10CM:F31|NIFSTD:birnlex_12754|SCTID:13746004|ICD10WHO:F31|UMLS:C0005586|ICD9:296.80|EFO:0000289|DOID:3312|ICD9:296.40|MESH:D001714|ICD9:296.60|ICD9:296.89	mondo.json	MAFD|manic-depressive illness|bipolar disorder manic phase|major affective disorder|manic depressive disorder|major bipolar affective disorder|manic-depression|manic depression|manic bipolar affective disorder|manic-depressive psychosis|bipolar affective disorder|bipolar depression|mixed bipolar disorder|bipolar disorder|depressive-manic psych.|manic disorder|manic bipolar I disorder	http://purl.obolibrary.org/obo/MONDO_0004985	UMLS:C0005586|http://identifiers.org/snomedct/13746004|https://icd.who.int/browse10/2019/en#/F31|http://identifiers.org/mesh/D001714|NCIT:C34423|DOID:3312|http://purl.bioontology.org/ontology/ICD10CM/F31	
MONDO:0002324	biolink:Disease	obsolete enamel erosion		ICD9:521.31|DOID:2497	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002324	DOID:2497	
MONDO:0004980	biolink:Disease	atopic eczema	A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema.	OMIMPS:603165|ICD9:691|NCIT:C3001|DOID:3310|EFO:0000274|ICD9:691.8	mondo.json	eczematous dermatitis|eczema|Atopic dermatitis|Besnier's prurigo|allergic form of dermatitis|allergic|allergic dermatitis|atopic eczema|Atopic neurodermatitis	http://purl.obolibrary.org/obo/MONDO_0004980	NCIT:C3001|https://omim.org/phenotypicSeries/PS603165|DOID:3310	
HGNC:25792	biolink:NamedThing	USB1			mondo.json		http://identifiers.org/hgnc/25792		
MONDO:0004982	biolink:Disease	pancreatitis	Inflammation of the pancreas.	DOID:4989|EFO:0000278|SCTID:75694006|UMLS:C0030305|NCIT:C3306|MESH:D010195	mondo.json	pancreas inflammation|inflammation of pancreas	http://purl.obolibrary.org/obo/MONDO_0004982	NCIT:C3306|UMLS:C0030305|http://identifiers.org/snomedct/75694006|DOID:4989|http://identifiers.org/mesh/D010195	
MONDO:0004981	biolink:Disease	atrial fibrillation	A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)	SCTID:49436004|HP:0005110|ICD9:427.31|UMLS:C0004238|OMIM:611819|DOID:0060224|OMIM:613120|EFO:0000275|MESH:D001281|NCIT:C50466	mondo.json	atrial fibrillation|atrial fibrillation (disease)|AFib|A-fib|AF	http://purl.obolibrary.org/obo/MONDO_0004981	DOID:0060224|UMLS:C0004238|http://identifiers.org/snomedct/49436004|http://identifiers.org/mesh/D001281|NCIT:C50466	
MONDO:0002320	biolink:Disease	congenital nervous system disorder	An abnormality of the nervous system that is present at birth or detected in the neonatal period.	DOID:2490|ICD9:742|NCIT:C97172	mondo.json	congenital abnormality of the nervous system|congenital neurologic anomaly|congenital nervous system disorder	http://purl.obolibrary.org/obo/MONDO_0002320	DOID:2490|NCIT:C97172	
GO:0048534	biolink:NamedThing	hematopoietic or lymphoid organ development	The process whose specific outcome is the progression of any organ involved in hematopoiesis (also known as hemopoiesis) or lymphoid cell activation over time, from its formation to the mature structure. Such development includes differentiation of resident cell types (stromal cells) and of migratory cell types dependent on the unique microenvironment afforded by the organ for their proper differentiation.		mondo.json	haemopoietic or lymphoid organ development|hemopoietic or lymphoid organ development|haematopoietic or lymphoid organ development	http://purl.obolibrary.org/obo/GO_0048534		
MONDO:0016948	biolink:Disease	partial duplication of the short arm of chromosome 11		Orphanet:262785	mondo.json	partial trisomy of chromosome 11p|partial trisomy of the short arm of chromosome 11|partial duplication of chromosome 11p|partial duplication of the short arm of chromosome type 11	http://purl.obolibrary.org/obo/MONDO_0016948	Orphanet:262785	disease_grouping|ordo_group_of_disorders
MONDO:0016949	biolink:Disease	partial duplication of the short arm of chromosome 16	Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	Orphanet:262794|GARD:0005315|UMLS:C0795861	mondo.json	partial trisomy of the short arm of chromosome 16|Duplication 16p|16p duplication|partial duplication of the short arm of chromosome type 16|partial trisomy of chromosome 16p|chromosome 16p duplication|partial trisomy 16p|16p trisomy|trisomy 16p|partial duplication of chromosome 16p	http://purl.obolibrary.org/obo/MONDO_0016949	UMLS:C0795861|Orphanet:262794	gard_rare|disease_grouping|ordo_group_of_disorders
UBERON:0013585	biolink:AnatomicalEntity	metapodium bone 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013585		
MONDO:0016955	biolink:Disease	partial duplication of the long arm of chromosome 4	Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person.	Orphanet:262860|MESH:C537644|GARD:0005347|UMLS:C0795812|DOID:0111159	mondo.json	dup(4q) syndrome, partial|distal 4q trisomy|Duplication 4q syndrome, partial|chromosome 4q duplication|partial duplication of the long arm of chromosome type 4|partial trisomy distal 4q|chromosome 4, partial trisomy 4q|partial trisomy 4q syndrome|4q trisomy|Duplication 4q|partial duplication of chromosome 4q|4q duplication|partial trisomy of the long arm of chromosome 4|trisomy 4q|partial trisomy 4q|partial trisomy of chromosome 4q	http://purl.obolibrary.org/obo/MONDO_0016955	DOID:0111159|http://identifiers.org/mesh/C537644|UMLS:C0795812|Orphanet:262860	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0016956	biolink:Disease	partial trisomy of the long arm of chromosome 5	Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.	Orphanet:262869|MESH:C537650|UMLS:C1802398|GARD:0005351	mondo.json	5q trisomy|partial trisomy of the long arm of chromosome type 5|Duplication 5q|partial duplication of chromosome 5q|5q duplication|trisomy 5q|partial trisomy 5q|partial trisomy of chromosome 5q|partial duplication of the long arm of chromosome 5|chromosome 5q duplication	http://purl.obolibrary.org/obo/MONDO_0016956	UMLS:C1802398|http://identifiers.org/mesh/C537650|Orphanet:262869	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0016957	biolink:Disease	partial duplication of the long arm of chromosome 6	Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Rarely, it is inherited from a parent with the same duplication. Treatment is based on the signs and symptoms present in each person.	MESH:C537812|Orphanet:262878|GARD:0005353	mondo.json	chromosome 6q duplication|partial trisomy of the long arm of chromosome 6|partial duplication of chromosome 6q|6q trisomy|Duplication 6q|partial trisomy of chromosome 6q|6q duplication|trisomy 6q|partial duplication of the long arm of chromosome type 6|partial trisomy 6q	http://purl.obolibrary.org/obo/MONDO_0016957	http://identifiers.org/mesh/C537812|Orphanet:262878	disease_grouping|ordo_group_of_disorders|gard_rare
MONDO:0016958	biolink:Disease	partial duplication of the long arm of chromosome 7	Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	MESH:C537821|GARD:0005357|UMLS:C0795821|Orphanet:262887	mondo.json	partial trisomy of the long arm of chromosome 7|trisomy 7q|partial trisomy 7q|partial duplication of chromosome 7q|chromosome 7q duplication|partial trisomy of chromosome 7q|partial duplication of the long arm of chromosome type 7|7q trisomy|Duplication 7q|7q duplication	http://purl.obolibrary.org/obo/MONDO_0016958	UMLS:C0795821|http://identifiers.org/mesh/C537821|Orphanet:262887	disease_grouping|ordo_group_of_disorders|gard_rare
MONDO:0016951	biolink:Disease	partial trisomy/tetrasomy of the short arm of chromosome 18		Orphanet:262812	mondo.json	partial duplication/triplication of the short arm of chromosome 18|partial trisomy/tetrasomy of chromosome 18p|partial trisomy/tetrasomy of the short arm of chromosome type 18|partial duplication/triplication of chromosome 18p	http://purl.obolibrary.org/obo/MONDO_0016951	Orphanet:262812	ordo_group_of_disorders|disease_grouping
MONDO:0016952	biolink:Disease	partial duplication of the long arm of chromosome 1		NCIT:C36521|UMLS:C0795800|Orphanet:262833|GARD:0010831	mondo.json	partial trisomy of the long arm of chromosome 1|1q duplications|partial duplication of chromosome 1q|partial duplication of the long arm of chromosome type 1|partial trisomy 1q|partial trisomy of chromosome 1q	http://purl.obolibrary.org/obo/MONDO_0016952	Orphanet:262833|UMLS:C0795800	ordo_group_of_disorders|disease_grouping
MONDO:0016953	biolink:Disease	partial duplication of the long arm of chromosome 2	Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	MESH:C535367|UMLS:C0795805|GARD:0005340|Orphanet:262842	mondo.json	2q duplication|partial trisomy of the long arm of chromosome 2|trisomy 2q|partial trisomy 2q|partial duplication of the long arm of chromosome type 2|partial duplication of chromosome 2q|chromosome 2q duplication|2q trisomy|Duplication 2q|partial trisomy of chromosome 2q	http://purl.obolibrary.org/obo/MONDO_0016953	http://identifiers.org/mesh/C535367|Orphanet:262842|UMLS:C0795805	ordo_group_of_disorders|gard_rare|disease_grouping
NCBITaxon:85819	biolink:OrganismalEntity	Phthiraptera		GC_ID:1	mondo.json	lice|lice	http://purl.obolibrary.org/obo/NCBITaxon_85819		
MONDO:0016954	biolink:Disease	partial duplication of the long arm of chromosome 3	Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on thelong arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.	GARD:0005345|Orphanet:262851|MESH:C536813|UMLS:C0795809	mondo.json	chromosome 3q duplication|Duplication 3q|partial duplication of the long arm of chromosome type 3|trisomy 3q|partial duplication of chromosome 3q|chromosome 3, trisomy 3q|partial trisomy of chromosome 3q	http://purl.obolibrary.org/obo/MONDO_0016954	http://identifiers.org/mesh/C536813|Orphanet:262851|UMLS:C0795809	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0016950	biolink:Disease	partial duplication of the short arm of chromosome 17		Orphanet:262803	mondo.json	partial duplication of chromosome 17p|partial trisomy of the short arm of chromosome 17|partial duplication of the short arm of chromosome type 17|partial trisomy of chromosome 17p	http://purl.obolibrary.org/obo/MONDO_0016950	Orphanet:262803	ordo_group_of_disorders|disease_grouping
NCBITaxon:36855	biolink:OrganismalEntity	Brucella canis		GC_ID:11	mondo.json	Brucella melitensis bv. Canis|Brucella melitensis biovar Canis	http://purl.obolibrary.org/obo/NCBITaxon_36855		
MONDO:0002318	biolink:Disease	trachea leiomyoma	A benign smooth muscle neoplasm arising from the trachea. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	SCTID:126703006|DOID:248|UMLS:C1336772|NCIT:C6049	mondo.json	trachea leiomyoma|leiomyoma of trachea|tracheal leiomyoma|leiomyoma of the trachea|trachea neoplasm|tracheal tumor|tracheal neoplasm	http://purl.obolibrary.org/obo/MONDO_0002318	DOID:248|NCIT:C6049|http://identifiers.org/snomedct/126703006|UMLS:C1336772	
MONDO:0002319	biolink:Disease	phosphorus metabolism disease	A metabolic disorder that affects the phosphate homeostasis.	NCIT:C97095|ICD9:275.3|UMLS:C0031707|DOID:2485|SCTID:87049008|ICD10CM:E83.3|MESH:D010760	mondo.json	phosphorus metabolism disorder|phosphorus disorder|disorder of phosphorus metabolism|phosphorus metabolic disorder	http://purl.obolibrary.org/obo/MONDO_0002319	http://purl.bioontology.org/ontology/ICD10CM/E83.3|http://identifiers.org/snomedct/87049008|UMLS:C0031707|DOID:2485|NCIT:C97095|http://identifiers.org/mesh/D010760	
HGNC:11153	biolink:NamedThing	SNRPB			mondo.json		http://identifiers.org/hgnc/11153		
NCBITaxon:10240	biolink:OrganismalEntity	Poxviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_10240		
NCBITaxon:10241	biolink:OrganismalEntity	Chordopoxvirinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_10241		
NCBITaxon:10298	biolink:OrganismalEntity	Human alphaherpesvirus 1		GC_ID:1	mondo.json	Human herpesvirus type 1|herpes simplex virus type 1 HSV1|Herpes simplex virus 1|HSV-1|Herpes simplex virus type 1|herpes simplex virus type-1 HSV-1|herpes simplex virus type 1 HSV-1|herpes simplex virus 1 HSV-1|HSV1|Human herpesvirus 1|herpes simplex virus HSV-1	http://purl.obolibrary.org/obo/NCBITaxon_10298		
MONDO:0002376	biolink:Disease	spleen angiosarcoma	A malignant vascular neoplasm arising from the spleen.	SCTID:187821001|UMLS:C0346424|ICD9:159.1|NCIT:C4564|DOID:265	mondo.json	splenic hemangiosarcoma|hemangiosarcoma of spleen|angiosarcoma of spleen|angiosarcoma of the spleen|hemangiosarcoma of the spleen|angiosarcoma (disease) of spleen|spleen angiosarcoma (disease)|splenic angiosarcoma	http://purl.obolibrary.org/obo/MONDO_0002376	UMLS:C0346424|DOID:265|http://identifiers.org/snomedct/187821001|NCIT:C4564	
MONDO:0002377	biolink:Disease	breast intracanalicular fibroadenoma	A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by distortion and compression of the ducts by proliferating stromal cells.	DOID:2656|ICDO:9011/0|NCIT:C4271|UMLS:C0334496	mondo.json	intracanalicular fibroadenoma of breast|intracanalicular fibroadenoma of the breast|intracanalicular breast fibroadenoma|intracanalicular fibroadenoma|breast intracanalicular fibroadenoma	http://purl.obolibrary.org/obo/MONDO_0002377	UMLS:C0334496|DOID:2656|NCIT:C4271	
HGNC:23109	biolink:NamedThing	FAT4			mondo.json		http://identifiers.org/hgnc/23109		
MONDO:0002378	biolink:Disease	dermoid cyst	A mature teratoma characterized by the presence of a cyst which is lined by mature tissue resembling the epidermis and the epidermal appendages. It occurs in the ovary, testis, and extragonadal sites including central nervous system and skin.	DOID:2658|EFO:1000894|SCTID:441459009|MESH:D003884|UMLS:C2700593|ICDO:9084/0|NCIT:C9011|UMLS:C2355625|UMLS:C0011649	mondo.json	subcutaneous cystic teratoma|benign cystic teratoma|dermoid cyst, benign|dermoid|dermoid tumor|teratoma, benign (morphologic abnormality)|mature cystic teratoma|dermoid cyst|teratoma, benign|dermoid choristoma|cystic dermoid choristoma|dermoid tumour	http://purl.obolibrary.org/obo/MONDO_0002378	http://identifiers.org/mesh/D003884|NCIT:C9011|UMLS:C2700593|http://identifiers.org/snomedct/441459009|UMLS:C2355625|UMLS:C0011649|DOID:2658	
MONDO:0002379	biolink:Disease	cystic teratoma		NCIT:C9014|DOID:2660|UMLS:C1368903	mondo.json	cystic teratoma	http://purl.obolibrary.org/obo/MONDO_0002379	NCIT:C9014|UMLS:C1368903|DOID:2660	
MONDO:0002372	biolink:Disease	ovarian monodermal and highly specialized teratoma	A teratoma of the ovary composed exclusively or predominantly of a single type of tissue derived from the ectoderm or endoderm. A representative example is struma ovarii which is a teratoma composed exclusively or predominantly of thyroid tissue.	NCIT:C8113|DOID:2641|UMLS:C0280134	mondo.json	ovarian germ cell monodermal and highly specialized teratoma|ovarian monodermal and highly specialized teratoma	http://purl.obolibrary.org/obo/MONDO_0002372	NCIT:C8113|UMLS:C0280134|DOID:2641	
MONDO:0002373	biolink:Disease	benign mesothelioma	A benign proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal covering and lining of various organ surfaces within the body.	ICD10CM:C45|DOID:2645|UMLS:C0025500|UMLS:C0348424|NCIT:C3234|ICD9:215.9|MESH:D008654|SCTID:254825007	mondo.json	benign tumor of mesothelial tissue|benign tumor of mesothelium|mesothelioma, benign	http://purl.obolibrary.org/obo/MONDO_0002373	DOID:2645|UMLS:C0348424|http://identifiers.org/snomedct/254825007	
GO:1903942	biolink:NamedThing	positive regulation of respiratory gaseous exchange	Any process that activates or increases the frequency, rate or extent of respiratory gaseous exchange.		mondo.json	activation of respiratory gaseous exchange|up-regulation of respiratory gaseous exchange|upregulation of respiratory gaseous exchange|up regulation of respiratory gaseous exchange	http://purl.obolibrary.org/obo/GO_1903942		
MONDO:0002374	biolink:Disease	obsolete parachordoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002374		
MONDO:0002375	biolink:Disease	sebaceous adenoma	A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells.	DOID:2648|UMLS:C1368816|ICDO:8410/0|NCIT:C4174	mondo.json	adenoma of the sebaceous gland|sebaceous adenoma (morphologic abnormality)|adenoma of sebaceous gland|skin appendage sebaceous adenoma|adenoma, sebaceous, benign|sebaceous gland adenoma	http://purl.obolibrary.org/obo/MONDO_0002375	UMLS:C1368816|DOID:2648|NCIT:C4174	
GO:1903941	biolink:NamedThing	negative regulation of respiratory gaseous exchange	Any process that stops, prevents or reduces the frequency, rate or extent of respiratory gaseous exchange.		mondo.json	downregulation of respiratory gaseous exchange|down regulation of respiratory gaseous exchange|inhibition of respiratory gaseous exchange|down-regulation of respiratory gaseous exchange	http://purl.obolibrary.org/obo/GO_1903941		
HGNC:25763	biolink:NamedThing	SMG9			mondo.json		http://identifiers.org/hgnc/25763		
GO:0048545	biolink:NamedThing	response to steroid hormone	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a steroid hormone stimulus.		mondo.json	response to steroid hormone stimulus	http://purl.obolibrary.org/obo/GO_0048545		
MONDO:0002370	biolink:Disease	ovarian Brenner tumor	A benign, borderline, or malignant transitional cell neoplasm arising from the ovary. It constitutes between 1% and 2% of all ovarian neoplasms. The average age at presentation is about 50 years. Grossly it is usually unilateral, firm and white or yellowish. Microscopically it consists of solid and cystic nests of epithelial cells resembling transitional epithelium surrounded by an abundant stromal component of dense, fibroblastic nature.	EFO:1000112|GARD:0009397|NCIT:C3872|MESH:D001948|DOID:2636|SCTID:254859006	mondo.json	Brenner tumor of the ovary|ovarian Brenner neoplasm|Brenner tumor of ovary|Brenner tumor|Brenner neoplasm of the ovary|Brenner neoplasm of ovary|benign ovarian Brenner tumor|ovarian Brenner tumor|ovary Brenner tumor	http://purl.obolibrary.org/obo/MONDO_0002370	NCIT:C3872|http://identifiers.org/mesh/D001948|http://identifiers.org/snomedct/254859006|DOID:2636	
MONDO:0002371	biolink:Disease	breast pericanalicular fibroadenoma	A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by circumferential proliferation of stromal cells around the ducts. This results in the formation of rounded ductal-epithelial structures.	ICDO:9012/0|NCIT:C4272|DOID:2639|UMLS:C0334497	mondo.json	pericanalicular fibroadenoma (morphologic abnormality)|pericanalicular fibroadenoma of the breast|pericanalicular breast fibroadenoma|breast pericanalicular fibroadenoma|pericanalicular fibroadenoma|pericanalicular fibroadenoma of breast	http://purl.obolibrary.org/obo/MONDO_0002371	DOID:2639|NCIT:C4272|UMLS:C0334497	
MONDO:0014369	biolink:Disease	postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.	DOID:0080328|UMLS:C4014479|Orphanet:420584|OMIM:615849|GARD:0013349	mondo.json	Pallister-Hall syndrome 2, formerly|Pallister-Hall syndrome 2|Culler-Jones syndrome|CJS	http://purl.obolibrary.org/obo/MONDO_0014369	DOID:0080328|UMLS:C4014479|https://omim.org/entry/615849|Orphanet:420584	ordo_malformation_syndrome
MONDO:0014368	biolink:Disease	melanoma, cutaneous malignant, susceptibility to, 10		OMIM:615848	mondo.json	susceptibility to cutaneous malignant melanoma 10|melanoma, cutaneous malignant, susceptibility to, 10|melanoma, cutaneous malignant, susceptibility to, type 10|CMM10	http://purl.obolibrary.org/obo/MONDO_0014368	https://omim.org/entry/615848	predisposition
MONDO:0014367	biolink:Disease	Aicardi-Goutieres syndrome 7	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene.	OMIM:615846|UMLS:C3888244	mondo.json	AGS7|Aicardi-Goutieres syndrome type 7|Aicardi-Goutieres syndrome caused by mutation in IFIH1|Aicardi-Goutieres syndrome 7|IFIH1 Aicardi-Goutieres syndrome	http://purl.obolibrary.org/obo/MONDO_0014367	UMLS:C3888244|https://omim.org/entry/615846	
MONDO:0014366	biolink:Disease	spermatogenic failure 14	Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene.	DOID:0070179|UMLS:C4014454|OMIM:615842	mondo.json	SPGF14|spermatogenic failure 14|ZMYND15 azoospermia|azoospermia caused by mutation in ZMYND15|spermatogenic failure type 14	http://purl.obolibrary.org/obo/MONDO_0014366	UMLS:C4014454|https://omim.org/entry/615842|DOID:0070179	
HGNC:11123	biolink:NamedThing	SMS			mondo.json		http://identifiers.org/hgnc/11123		
GO:0061526	biolink:NamedThing	acetylcholine secretion	The regulated release of acetylcholine by a cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0061526		
MONDO:0014361	biolink:Disease	autism spectrum disorder due to AUTS2 deficiency	Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.	OMIM:615834|UMLS:C4014435|Orphanet:352490|DOID:0070056	mondo.json	intellectual developmental disorder, autosomal dominant 26|mental retardation, autosomal dominant 26|MRD26|intellectual disability type 26|autosomal dominant mental retardation 26|ASD due to AUTS2 deficiency|autosomal dominant non-syndromic intellectual disability 26|AUTS2 syndrome|autism spectrum disorder due to AUTS2 deficiency|mental retardation, autosomal dominant type 26	http://purl.obolibrary.org/obo/MONDO_0014361	UMLS:C4014435|https://omim.org/entry/615834|DOID:0070056|Orphanet:352490	ordo_disease
MONDO:0014360	biolink:Disease	developmental and epileptic encephalopathy, 21	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene.	DOID:0080443|OMIM:615833|UMLS:C4014430	mondo.json	DEE21|EIEE21|early infantile epileptic encephalopathy caused by mutation in NECAP1|developmental and epileptic encephalopathy 21|epileptic encephalopathy, early infantile, 21|NECAP1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 21	http://purl.obolibrary.org/obo/MONDO_0014360	DOID:0080443|UMLS:C4014430|https://omim.org/entry/615833	
NCBITaxon:10292	biolink:OrganismalEntity	Herpesviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_10292		
NCBITaxon:10293	biolink:OrganismalEntity	Alphaherpesvirinae		GC_ID:1	mondo.json	Alphaherpesviruses	http://purl.obolibrary.org/obo/NCBITaxon_10293		
MONDO:0014365	biolink:Disease	spermatogenic failure 13	Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene.	UMLS:C4014449|OMIM:615841|DOID:0070182	mondo.json	TAF4B azoospermia|SPGF13|azoospermia caused by mutation in TAF4B|spermatogenic failure 13|spermatogenic failure type 13	http://purl.obolibrary.org/obo/MONDO_0014365	UMLS:C4014449|https://omim.org/entry/615841|DOID:0070182	
HGNC:11122	biolink:NamedThing	SMPX			mondo.json		http://identifiers.org/hgnc/11122		
MONDO:0014364	biolink:Disease	mitochondrial complex III deficiency nuclear type 8	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene.	DOID:0080117|OMIM:615838|UMLS:C4014440	mondo.json	mitochondrial complex III deficiency, nuclear type 8|LYRM7 mitochondrial complex III deficiency|MC3DN8|mitochondrial Complex 3 deficiency, nuclear type 8|mitochondrial complex III deficiency caused by mutation in LYRM7|mitochondrial complex III deficiency nuclear type 8	http://purl.obolibrary.org/obo/MONDO_0014364	DOID:0080117|UMLS:C4014440|https://omim.org/entry/615838	
NCBITaxon:10294	biolink:OrganismalEntity	Simplexvirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_10294		
NCBITaxon:578835	biolink:OrganismalEntity	Rhipicephalus sanguineus group		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_578835		
MONDO:0014363	biolink:Disease	autosomal recessive nonsyndromic hearing loss 101	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene.	UMLS:C3892049|OMIM:615837|DOID:0110462	mondo.json	DFNB101|GRXCR2 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 101|deafness, autosomal recessive type 101|autosomal recessive nonsyndromic deafness 101|autosomal recessive deafness 101|autosomal recessive nonsyndromic deafness caused by mutation in GRXCR2|deafness, autosomal recessive 101	http://purl.obolibrary.org/obo/MONDO_0014363	DOID:0110462|https://omim.org/entry/615837|UMLS:C3892049	
HGNC:11120	biolink:NamedThing	SMPD1			mondo.json		http://identifiers.org/hgnc/11120		
MONDO:0014362	biolink:Disease	chromosome 16 inversion, 0.45-Mb		OMIM:615835	mondo.json	chromosome 16 inversion, 0.45-Mb	http://purl.obolibrary.org/obo/MONDO_0014362	https://omim.org/entry/615835	
HGNC:13780	biolink:NamedThing	GFM1			mondo.json		http://identifiers.org/hgnc/13780		
MONDO:0002387	biolink:Disease	liver angiosarcoma	A malignant vascular neoplasm arising from the liver.	GARD:0005813|ICD10CM:C22.3|DOID:268|ONCOTREE:LIAS|NCIT:C4438|UMLS:C0345907|ICDO:9124/3|SCTID:109844006	mondo.json	angiosarcoma (disease) of liver|liver angiosarcoma|primary angiosarcoma of the liver|primary angiosarcoma of liver|angiosarcoma of the liver|liver hemangiosarcoma|hemangiosarcoma of liver|Lias|hepatic angiosarcoma|hepatic hemangiosarcoma|hemangiosarcoma of the liver|angiosarcoma of liver|liver angiosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0002387	DOID:268|UMLS:C0345907|http://purl.bioontology.org/ontology/ICD10CM/C22.3|NCIT:C4438|http://identifiers.org/snomedct/109844006	gard_rare
GO:1903959	biolink:NamedThing	regulation of anion transmembrane transport	Any process that modulates the frequency, rate or extent of anion transmembrane transport.		mondo.json		http://purl.obolibrary.org/obo/GO_1903959		
MONDO:0002388	biolink:Disease	intracystic papillary adenoma	A papillary epithelial neoplasm arising in a cystically dilated breast duct.	UMLS:C0334374|DOID:2682|ICDO:8504/0|NCIT:C4191	mondo.json	intracystic papillary adenoma (morphologic abnormality)|intracystic papillary adenoma|intracystic papilloma	http://purl.obolibrary.org/obo/MONDO_0002388	DOID:2682|NCIT:C4191|UMLS:C0334374	
MONDO:0002389	biolink:Disease	obsolete adenofibroma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002389		
MONDO:0002383	biolink:Disease	Pacinian tumor	A neurofibroma characterized by the presence of structures which resemble Vater-Pacini corpuscles.	NCIT:C4328|UMLS:C0334599|ICDO:9507/0|ICD9:215.9|DOID:2669|SCTID:404033003	mondo.json	Pacinian neurofibroma|Pacinian tumor (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0002383	DOID:2669|NCIT:C4328|UMLS:C0334599|http://identifiers.org/snomedct/404033003	
MONDO:0002384	biolink:Disease	obsolete transitional cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002384		
HP:0033259	biolink:PhenotypicFeature	Non-motor seizure	A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown.		mondo.json		http://purl.obolibrary.org/obo/HP_0033259		
MONDO:0002385	biolink:Disease	benign cystic nephroma	A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid.	EFO:1000213|ICDO:8959/0|DOID:2673|UMLS:C1266138|NCIT:C7504	mondo.json	benign multilocular cystic nephroma|benign cystic nephroma|cystic nephroma	http://purl.obolibrary.org/obo/MONDO_0002385	UMLS:C1266138|NCIT:C7504|DOID:2673	
MONDO:0002386	biolink:Disease	mixed epithelial stromal tumor of the kidney	A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria.	EFO:1000381|DOID:2678|UMLS:C1272677|NCIT:C37263	mondo.json	adult mesoblastic nephroma|mixed epithelial and stromal tumour of kidney|mixed epithelial stromal tumor of the kidney|MEST|benign MEST	http://purl.obolibrary.org/obo/MONDO_0002386	UMLS:C1272677|NCIT:C37263	
HGNC:25774	biolink:NamedThing	TCTN2			mondo.json		http://identifiers.org/hgnc/25774		
MONDO:0002380	biolink:Disease	myoepithelial tumor	A benign or malignant tumor characterized by the presence of cells that show myoepithelial differentiation. Based on its morphologic features, it is classified as benign or malignant. A representative example of benign myoepithelioma is benign salivary gland myoepithelioma. Representative examples of malignant myoepithelioma or myoepithelial carcinoma are malignant breast myoepithelioma and salivary gland myoepithelial carcinoma.	ICDO:8982/1|DOID:2661|ICDO:8982/0|UMLS:C1947949|MESH:D009208|NCIT:C40392|UMLS:C0027070	mondo.json	myoepithelial neoplasm|myoepithelioma|myoepithelial tumor|benign myoepithelioma|myoepithelial adenoma	http://purl.obolibrary.org/obo/MONDO_0002380	UMLS:C1947949|DOID:2661|UMLS:C0027070|NCIT:C40392|http://identifiers.org/mesh/D009208	
MONDO:0002381	biolink:Disease	sweat gland neoplasm	A benign or malignant neoplasm arising from the sweat glands.	SCTID:126490003|DOID:2664|ICDO:8400/1|UMLS:C0038987|MESH:D013544|ICD9:239.2|NCIT:C3398|EFO:1001204	mondo.json	neoplasm of the sweat gland|tumor of sweat gland|sweat gland neoplasms|sweat gland neoplasm|sweat gland neoplasm (disease)|neoplasm of sweat gland|tumor of the sweat gland|sweat gland tumor|sweat gland tumor NOS (morphologic abnormality)|sweat gland tumor (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0002381	http://identifiers.org/mesh/D013544|UMLS:C0038987|DOID:2664|http://identifiers.org/snomedct/126490003|NCIT:C3398	
MONDO:0002382	biolink:Disease	benign mesenchymoma	A term describing a benign soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.	UMLS:C0334491|NCIT:C4267|ICDO:8990/0|DOID:2667	mondo.json	mesenchymoma, benign (morphologic abnormality)|mesenchymal tumor, benign|mesenchymoma, benign	http://purl.obolibrary.org/obo/MONDO_0002382	NCIT:C4267|UMLS:C0334491	
MONDO:0014358	biolink:Disease	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome		UMLS:C4014419|OMIM:615829|DOID:0070055|Orphanet:412069|EFO:0009015	mondo.json	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome|mental retardation, autosomal dominant 25|Xia-Gibbs syndrome|autosomal dominant intellectual disability 25|intellectual disability, autosomal dominant 25|MRD25|autosomal dominant mental retardation 25	http://purl.obolibrary.org/obo/MONDO_0014358	DOID:0070055|Orphanet:412069|UMLS:C4014419|https://omim.org/entry/615829	ordo_malformation_syndrome
MONDO:0014357	biolink:Disease	intellectual disability, autosomal dominant 24	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene.	OMIM:615828|UMLS:C4014414|DOID:0070054	mondo.json	Vulto-van Silfout-de Vries syndrome|autosomal dominant mental retardation 24|mental retardation, autosomal dominant type 24|intellectual disability, autosomal dominant type 24|autosomal dominant intellectual disability 24|mental retardation, autosomal dominant 24|autosomal dominant non-syndromic intellectual disability caused by mutation in DEAF1|autosomal dominant non-syndromic intellectual disability 24|intellectual disability, autosomal dominant 24|DEAF1 autosomal dominant non-syndromic intellectual disability|MRD24	http://purl.obolibrary.org/obo/MONDO_0014357	DOID:0070054|UMLS:C4014414|https://omim.org/entry/615828	
MONDO:0014356	biolink:Disease	mitochondrial complex III deficiency nuclear type 7	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene.	UMLS:C4014408|DOID:0080116|OMIM:615824	mondo.json	mitochondrial complex III deficiency, nuclear type 7|mitochondrial complex III deficiency caused by mutation in UQCC2|mitochondrial Complex 3 deficiency, nuclear type 7|UQCC2 mitochondrial complex III deficiency|MC3DN7	http://purl.obolibrary.org/obo/MONDO_0014356	DOID:0080116|UMLS:C4014408|https://omim.org/entry/615824	
MONDO:0041903	biolink:Disease	gonococcal infection of joint		UMLS:C0153216|SCTID:44743006	mondo.json	gonococcal arthritis|gonococcal infection of joint|gonococcal joint infection|gonococcal rheumatism	http://purl.obolibrary.org/obo/MONDO_0041903	UMLS:C0153216|http://identifiers.org/snomedct/44743006	
MONDO:0014355	biolink:Disease	cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis		OMIM:615821|UMLS:C4014393	mondo.json	DCWHKTA|dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis|cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	http://purl.obolibrary.org/obo/MONDO_0014355	UMLS:C4014393|https://omim.org/entry/615821	
GO:0061512	biolink:NamedThing	protein localization to cilium	A process in which a protein is transported to, or maintained in, a location within a cilium.		mondo.json		http://purl.obolibrary.org/obo/GO_0061512		
HGNC:13797	biolink:NamedThing	PRX			mondo.json		http://identifiers.org/hgnc/13797		
HGNC:11139	biolink:NamedThing	SNCAIP			mondo.json		http://identifiers.org/hgnc/11139		
MONDO:0014359	biolink:Disease	pigmented nodular adrenocortical disease, primary, 4	Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene.	UMLS:C4014425|OMIM:615830	mondo.json	Cushing syndrome, adrenal, due to Ppnad4|PPNAD4|Cushing syndrome, ACTH-independent adrenal, somatic|PRKACA primary pigmented nodular adrenocortical disease|ACTH-independent adrenal Cushing syndrome, somatic|pigmented nodular adrenocortical disease, primary, type 4|primary pigmented nodular adrenocortical disease caused by mutation in PRKACA|pigmented nodular adrenocortical disease, primary, 4|chromosome 19P13 Duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0014359	UMLS:C4014425|https://omim.org/entry/615830	
HGNC:11138	biolink:NamedThing	SNCA			mondo.json		http://identifiers.org/hgnc/11138		
MONDO:0014350	biolink:Disease	Seckel syndrome 8	Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene.	OMIM:615807|UMLS:C3891452|DOID:0070009	mondo.json	Seckel syndrome caused by mutation in DNA2|SCKL8|Seckel syndrome type 8|DNA2 Seckel syndrome|Seckel syndrome 8	http://purl.obolibrary.org/obo/MONDO_0014350	UMLS:C3891452|https://omim.org/entry/615807|DOID:0070009	
MONDO:0014354	biolink:Disease	intellectual disability, autosomal recessive 43	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the WASHC4 gene.	OMIM:615817|UMLS:C4014386	mondo.json	WASHC4 autosomal recessive non-syndromic intellectual disability|intellectual developmental disorder, autosomal recessive 43|mental retardation, autosomal recessive type 43|intellectual disability, autosomal recessive type 43|mental retardation, autosomal recessive 43|intellectual disability, autosomal recessive 43|MRT43|autosomal recessive non-syndromic intellectual disability caused by mutation in WASHC4	http://purl.obolibrary.org/obo/MONDO_0014354	UMLS:C4014386|https://omim.org/entry/615817	
HGNC:11133	biolink:NamedThing	SNAP29			mondo.json		http://identifiers.org/hgnc/11133		
MONDO:0014353	biolink:Disease	immunodeficiency 23		OMIM:615816|Orphanet:443811|OMIM:216920|MESH:C565684|UMLS:C1857617|GARD:0004331|UMLS:C4014371	mondo.json	PGM3-CDG|PGM3-EXACT congenital disorder of glycosylation|IMD23|phosphoglucomutase 3 deficiency|CID due to PGM3 deficiency|phosphoglucomutase deficiency type 3|immunodeficiency with hyper IgE and cognitive impairment|immunodeficiency-vasculitis-myoclonus syndrome|immunodeficiency 23|combined inflammatory and immunologic defect|combined immunodeficiency due to PGM3 deficiency|immunodeficiency type 23	http://purl.obolibrary.org/obo/MONDO_0014353	https://omim.org/entry/216920|Orphanet:443811|UMLS:C1857617|UMLS:C4014371|http://identifiers.org/mesh/C565684|https://omim.org/entry/615816	ordo_disease
HGNC:11132	biolink:NamedThing	SNAP25			mondo.json		http://identifiers.org/hgnc/11132		
MONDO:0014352	biolink:Disease	abdominal obesity-metabolic syndrome 3	Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene.	DOID:0060612|OMIM:615812|UMLS:C4014361	mondo.json	abdominal obesity-metabolic syndrome type 3|abdominal obesity-metabolic syndrome 3|DYRK1B metabolic syndrome|metabolic syndrome caused by mutation in DYRK1B|central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease|AOMS3	http://purl.obolibrary.org/obo/MONDO_0014352	UMLS:C4014361|https://omim.org/entry/615812|DOID:0060612	
MONDO:0014351	biolink:Disease	pontocerebellar hypoplasia type 9	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene.	Orphanet:369920|DOID:0060278|UMLS:C4014354|OMIM:615809	mondo.json	pontocerebellar hypoplasia, type 9|non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2|AMPD2 non-syndromic pontocerebellar hypoplasia|PCH9	http://purl.obolibrary.org/obo/MONDO_0014351	UMLS:C4014354|DOID:0060278|https://omim.org/entry/615809|Orphanet:369920	ordo_malformation_syndrome
MONDO:0002358	biolink:Disease	laryngeal carcinoma	Carcinoma that arises from the laryngeal epithelium. More than 90% of laryngeal carcinomas are squamous cell carcinomas. The remainder are adenoid cystic carcinomas, mucoepidermoid carcinomas and carcinomas with neuroendocrine differentiation.	GARD:0006862|SCTID:276975007|DOID:2600|NCIT:C4855|UMLS:C0595989	mondo.json	cancer of larynx|cancer of the larynx|carcinoma of the larynx|carcinoma of larynx|laryngeal throat cancer|larynx carcinoma|laryngeal cancer|laryngeal carcinoma	http://purl.obolibrary.org/obo/MONDO_0002358	DOID:2600|NCIT:C4855|http://identifiers.org/snomedct/276975007|UMLS:C0595989	
MONDO:0002359	biolink:Disease	periosteal chondroma	A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification.	ICDO:9221/0|DOID:2601|UMLS:C0334548|NCIT:C4302	mondo.json	juxtacortical chondroma (morphologic abnormality)|periosteal chondroma|juxtacortical chondroma	http://purl.obolibrary.org/obo/MONDO_0002359	DOID:2601|NCIT:C4302|UMLS:C0334548	
NCBITaxon:10278	biolink:OrganismalEntity	Molluscipoxvirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_10278		
MONDO:0002354	biolink:Disease	benign laryngeal neoplasm	A non-metastasizing neoplasm that arises from the larynx. Representative examples include squamous papilloma and hemangioma.	NCIT:C3601|SCTID:92175003|DOID:2598|ICD9:212.1|UMLS:C0153952	mondo.json	laryngeal tumor|benign tumor of larynx|benign tumor of the larynx|benign neoplasm of larynx|benign neoplasm of the larynx|benign larynx tumor|benign laryngeal tumor|laryngeal benign neoplasm|larynx neoplasm|larynx benign neoplasm|benign laryngeal neoplasm|benign larynx neoplasm|laryngeal neoplasm, benign	http://purl.obolibrary.org/obo/MONDO_0002354	http://identifiers.org/snomedct/92175003|UMLS:C0153952|NCIT:C3601|DOID:2598	
NCBITaxon:10279	biolink:OrganismalEntity	Molluscum contagiosum virus		GC_ID:1	mondo.json	MOCV	http://purl.obolibrary.org/obo/NCBITaxon_10279		
MONDO:0002355	biolink:Disease	glottis carcinoma	A carcinoma that arises from epithelial cells of the glottis.	SCTID:372103002|DOID:2599|NCIT:C4923|UMLS:C0740083	mondo.json	glottic throat cancer|glottic carcinoma|glottis cancer|cancer of the glottis|cancer of glottis|carcinoma of the glottis|carcinoma of glottis|glottis carcinoma	http://purl.obolibrary.org/obo/MONDO_0002355	http://identifiers.org/snomedct/372103002|NCIT:C4923|UMLS:C0740083|DOID:2599	
MONDO:0002356	biolink:Disease	pancreas disorder	A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms.	ICD9:577.9|NCIT:C26842|DOID:26|SCTID:3855007|ICD9:577.8|MESH:D010182	mondo.json	pancreatic disorder|pancreas disease or disorder|disorder of pancreas|disease, pancreatic|disease of pancreas|disease or disorder of pancreas|pancreatic disease|pancreas disease|diseases, pancreatic	http://purl.obolibrary.org/obo/MONDO_0002356	NCIT:C26842|DOID:26|http://identifiers.org/mesh/D010182|http://identifiers.org/snomedct/3855007	
MONDO:0002357	biolink:Disease	hepatic flexure cancer	A malignant neoplasm involving the hepatic flexure of colon.	ICD9:153.0|DOID:260|UMLS:C0153433|SCTID:363407001	mondo.json	cancer of hepatic flexure of colon|malignant hepatic flexure of colon neoplasm|Ca hepatic flexure - colon|malignant tumor of hepatic flexure|malignant neoplasm of hepatic flexure of colon|malignant neoplasm of hepatic flexure|hepatic flexure of colon cancer	http://purl.obolibrary.org/obo/MONDO_0002357	UMLS:C0153433|DOID:260|http://identifiers.org/snomedct/363407001	
MONDO:0002350	biolink:Disease	familial nephrotic syndrome	An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome.	UMLS:CN043611|UMLS:C3501848|NCIT:C35337|OMIMPS:256300|SCTID:48796009|DOID:2590	mondo.json	hereditary nephrotic syndrome|congenital nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0002350	https://omim.org/phenotypicSeries/PS256300|NCIT:C35337|UMLS:CN043611|UMLS:C3501848|DOID:2590|http://identifiers.org/snomedct/48796009	
MONDO:0002351	biolink:Disease	glottis cancer	A malignant neoplasm that affects the glottic area of the larynx. The vast majority of cases represent squamous cell carcinomas.	NCIT:C3544|SCTID:187841006|DOID:2595|UMLS:C0153483|ICD9:161.0	mondo.json	Ca larynx - glottis|malignant tumor of glottis|cancer of glottis|malignant tumor of the glottis|glottis cancer|malignant glottis neoplasm|malignant neoplasm of glottis|malignant neoplasm of the glottis|malignant glottis tumor	http://purl.obolibrary.org/obo/MONDO_0002351	UMLS:C0153483|NCIT:C3544|http://identifiers.org/snomedct/187841006|DOID:2595	
MONDO:0002352	biolink:Disease	larynx cancer	A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas.	UMLS:C0007107|ICD9:161.9|EFO:1000354|ICD9:161.8|NCIT:C7484|ICD9:161|DOID:2596|SCTID:363429002	mondo.json	cancer of larynx|malignant larynx tumor|malignant neoplasm of the larynx|malignant larynx neoplasm|larynx cancer|malignant laryngeal neoplasm|malignant tumor of larynx|malignant tumor of the larynx|malignant neoplasm of larynx|malignant laryngeal tumor	http://purl.obolibrary.org/obo/MONDO_0002352	UMLS:C0007107|NCIT:C7484|DOID:2596|http://identifiers.org/snomedct/363429002	
MONDO:0002353	biolink:Disease	glottis neoplasm	A benign or malignant neoplasm that affects the glottic area of the larynx.	SCTID:126693009|DOID:2597|NCIT:C4425|UMLS:C0345713	mondo.json	glottis neoplasm|neoplasm of glottis|glottis tumor|tumor of the glottis|glottis neoplasm (disease)|tumor of glottis|neoplasm of the glottis	http://purl.obolibrary.org/obo/MONDO_0002353	NCIT:C4425|UMLS:C0345713|http://identifiers.org/snomedct/126693009|DOID:2597	
GO:1903961	biolink:NamedThing	positive regulation of anion transmembrane transport	Any process that activates or increases the frequency, rate or extent of anion transmembrane transport.		mondo.json	up-regulation of anion transmembrane transport|up regulation of anion transmembrane transport|activation of anion transmembrane transport|upregulation of anion transmembrane transport	http://purl.obolibrary.org/obo/GO_1903961		
HGNC:25740	biolink:NamedThing	CEP78			mondo.json		http://identifiers.org/hgnc/25740		
GO:1903960	biolink:NamedThing	negative regulation of anion transmembrane transport	Any process that stops, prevents or reduces the frequency, rate or extent of anion transmembrane transport.		mondo.json	inhibition of anion transmembrane transport|downregulation of anion transmembrane transport|down-regulation of anion transmembrane transport|down regulation of anion transmembrane transport	http://purl.obolibrary.org/obo/GO_1903960		
GO:0048565	biolink:NamedThing	digestive tract development	The process whose specific outcome is the progression of the digestive tract over time, from its formation to the mature structure. The digestive tract is the anatomical structure through which food passes and is processed.		mondo.json	intestine development|intestinal development|gut development	http://purl.obolibrary.org/obo/GO_0048565		
HGNC:11104	biolink:NamedThing	SMARCC1			mondo.json		http://identifiers.org/hgnc/11104		
MONDO:0014347	biolink:Disease	short stature with microcephaly and distinctive facies		UMLS:C4014339|OMIM:615789	mondo.json	short stature with microcephaly and distinctive facies	http://purl.obolibrary.org/obo/MONDO_0014347	UMLS:C4014339|https://omim.org/entry/615789	
MONDO:0014346	biolink:Disease	white sponge nevus 2		UMLS:C4014321|OMIM:615785	mondo.json	WSN2|White sponge Nevus type 2|WHITE sponge NEVUS 2|white sponge nevus 2	http://purl.obolibrary.org/obo/MONDO_0014346	UMLS:C4014321|https://omim.org/entry/615785	
HGNC:11103	biolink:NamedThing	SMARCB1			mondo.json		http://identifiers.org/hgnc/11103		
MONDO:0014345	biolink:Disease	retinitis pigmentosa 69	Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene.	DOID:0110410|ICD10CM:H35.5|OMIM:615780|UMLS:C4014312	mondo.json	retinitis pigmentosa type 69|KIZ retinitis pigmentosa|retinitis pigmentosa 69|retinitis pigmentosa caused by mutation in KIZ|RP69	http://purl.obolibrary.org/obo/MONDO_0014345	UMLS:C4014312|DOID:0110410|https://omim.org/entry/615780	
HGNC:11102	biolink:NamedThing	SMARCAL1			mondo.json		http://identifiers.org/hgnc/11102		
MONDO:0014344	biolink:Disease	congenital heart defects, multiple types, 4	Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene.	OMIM:615779|UMLS:C4014310	mondo.json	CHTD4|congenital heart defects, multiple types, 4|NR2F2 congenital heart defects, multiple types|congenital heart defects, multiple types caused by mutation in NR2F2	http://purl.obolibrary.org/obo/MONDO_0014344	UMLS:C4014310|https://omim.org/entry/615779	
GO:0061547	biolink:NamedThing	glycogen synthase activity, transferring glucose-1-phosphate	Catalysis of the reaction: UDP-glucose + (1,4)-alpha-D-glucosyl(n) = UMP + (1,4)-alpha-D-glucosyl(n)-glucose-1-phosphate.		mondo.json		http://purl.obolibrary.org/obo/GO_0061547		
MONDO:0014349	biolink:Disease	pontocerebellar hypoplasia type 10	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene.	OMIM:615803|UMLS:C4014347|DOID:0060279|Orphanet:411493	mondo.json	CLP1 non-syndromic pontocerebellar hypoplasia|PCH10|CLP1-related pontocerebellar hypoplasia|pontocerebellar hypoplasia, type 10|non-syndromic pontocerebellar hypoplasia caused by mutation in CLP1	http://purl.obolibrary.org/obo/MONDO_0014349	https://omim.org/entry/615803|Orphanet:411493|UMLS:C4014347|DOID:0060279	ordo_malformation_syndrome
MONDO:0014348	biolink:Disease	intellectual disability, autosomal recessive 42	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene.	OMIM:615802|UMLS:C4014343	mondo.json	MRT42|intellectual disability, autosomal recessive type 42|intellectual disability, autosomal recessive 42|PGAP1 autosomal recessive non-syndromic intellectual disability|neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities|glycosylphosphatidylinositol biosynthesis defect 9|autosomal recessive non-syndromic intellectual disability caused by mutation in PGAP1|mental retardation, autosomal recessive type 42|mental retardation, autosomal recessive 42	http://purl.obolibrary.org/obo/MONDO_0014348	https://omim.org/entry/615802|UMLS:C4014343	
HGNC:11105	biolink:NamedThing	SMARCC2			mondo.json		http://identifiers.org/hgnc/11105		
MONDO:0014343	biolink:Disease	Desbuquois dysplasia 2	Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene.	UMLS:C3550876|OMIM:615777|UMLS:C4014294	mondo.json	XYLT1 Desbuquois dysplasia|Desbuquois dysplasia type 2|DBQD2|Desbuquois dysplasia caused by mutation in XYLT1|Desbuquois dysplasia 2|Baratela-Scott syndrome	http://purl.obolibrary.org/obo/MONDO_0014343	UMLS:C4014294|https://omim.org/entry/615777	
HGNC:11100	biolink:NamedThing	SMARCA4			mondo.json		http://identifiers.org/hgnc/11100		
MONDO:0014342	biolink:Disease	female infertility due to zona pellucida defect	Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa.	Orphanet:404466|UMLS:C4014291|OMIM:615774	mondo.json	oocyte maturation defect|OOMD1|oocyte maturation defect 1|OOMD	http://purl.obolibrary.org/obo/MONDO_0014342	UMLS:C4014291|Orphanet:404466|https://omim.org/entry/615774	ordo_disease
MONDO:0014341	biolink:Disease	complex cortical dysplasia with other brain malformations 6	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene.	DOID:0090136|OMIM:615771|UMLS:C4014283	mondo.json	cortical dysplasia, Complex, with Other brain malformations type 6|CDCBM56|cortical dysplasia, complex, with other brain malformations 6|TUBB complex cortical dysplasia with other brain malformations|complex cortical dysplasia with other brain malformations type 6|complex cortical dysplasia with other brain malformations caused by mutation in TUBB|CDCBM6	http://purl.obolibrary.org/obo/MONDO_0014341	UMLS:C4014283|DOID:0090136|https://omim.org/entry/615771	
MONDO:0014340	biolink:Disease	atrial fibrillation, familial, 15	Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene.	UMLS:C4014269|OMIM:615770	mondo.json	familial atrial fibrillation caused by mutation in NUP155|ATFB15|atrial fibrillation, familial, 15|atrial fibrillation, familial, type 15|atrial fibrillation 15|NUP155 familial atrial fibrillation	http://purl.obolibrary.org/obo/MONDO_0014340	UMLS:C4014269|https://omim.org/entry/615770	
MONDO:0002369	biolink:Disease	cystadenoma	A benign or borderline cystic epithelial neoplasm arising from the glandular epithelium. The epithelial cells line the cystic spaces which contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenomas.	NCIT:C2972|ICDO:8440/0|DOID:2634|MESH:D003537|UMLS:C0010633	mondo.json	cystadenoma|cystoma|cystadenoma, benign|cystadenoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0002369	http://identifiers.org/mesh/D003537|NCIT:C2972|DOID:2634|UMLS:C0010633	
MONDO:0002365	biolink:Disease	kidney hemangiopericytoma	A hemangiopericytoma arising from the kidney.	DOID:262|NCIT:C4527|SCTID:254923001|UMLS:C0346256	mondo.json	hemangiopericytoma of the kidney|renal hemangiopericytoma|kidney spindle cell tumor|kidney hemangiopericytoma|hemangiopericytoma of kidney	http://purl.obolibrary.org/obo/MONDO_0002365	NCIT:C4527|UMLS:C0346256|DOID:262|http://identifiers.org/snomedct/254923001	
GO:1901318	biolink:NamedThing	negative regulation of flagellated sperm motility	Any process that stops, prevents or reduces the frequency, rate or extent of flagellated sperm motility.		mondo.json	down regulation of sperm motility|inhibition of sperm movement|down-regulation of sperm motility|negative regulation of sperm motility|downregulation of sperm movement|inhibition of sperm motility|down regulation of sperm movement|downregulation of sperm motility|down-regulation of sperm movement|negative regulation of sperm movement	http://purl.obolibrary.org/obo/GO_1901318		
MONDO:0002366	biolink:Disease	autonomic nervous system neoplasm	Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system.	NCIT:C5112|DOID:2621|UMLS:C1332356	mondo.json	neoplasm of the autonomic nervous system|autonomic nervous system neoplasms|autonomic nervous system neoplasm|neoplasm of autonomic nervous system|tumor of autonomic nervous system|autonomic nervous system tumor|autonomic nervous system neoplasm (disease)|tumor of the autonomic nervous system	http://purl.obolibrary.org/obo/MONDO_0002366	UMLS:C1332356|NCIT:C5112|DOID:2621	
MONDO:0002367	biolink:Disease	kidney cancer	Primary or metastatic malignant neoplasm involving the kidney.	DOID:263|UMLS:CN881103|MESH:D007680|ICD9:189.0|SCTID:363518003|NCIT:C7548	mondo.json	kidney cancer|malignant neoplasm of kidney|malignant neoplasm of kidney except pelvis|malignant neoplasm of the kidney|malignant kidney neoplasm|malignant kidney tumor|cancer of kidney|malignant tumour of kidney|malignant renal tumor|malignant tumor of kidney|malignant renal neoplasm|malignant tumor of the kidney	http://purl.obolibrary.org/obo/MONDO_0002367	http://identifiers.org/snomedct/363518003|UMLS:CN881103|DOID:263|http://identifiers.org/mesh/D007680|NCIT:C7548	
GO:1901317	biolink:NamedThing	regulation of flagellated sperm motility	Any process that modulates the frequency, rate or extent of flagellated sperm motility.		mondo.json	regulation of sperm movement|regulation of sperm motility	http://purl.obolibrary.org/obo/GO_1901317		
MONDO:0002368	biolink:Disease	papillary serous cystadenocarcinoma	A malignant cystic serous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present.	NCIT:C8377|SCTID:716649003|DOID:2632|UMLS:C0334359|ICDO:8460/3	mondo.json	serous surface papillary carcinoma (morphologic abnormality)|micropapillary serous carcinoma|papillary serous cystadenocarcinoma|papillary serous carcinoma|papillary serous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002368	http://identifiers.org/snomedct/716649003|NCIT:C8377|DOID:2632	
MONDO:0002361	biolink:Disease	transverse colon cancer	A malignant neoplasm involving the transverse colon.	DOID:261|SCTID:363408006|UMLS:C0153434|ICD9:153.1	mondo.json	malignant neoplasm of transverse colon|malignant transverse colon neoplasm|cancer of transverse colon|malignant tumor of transverse colon|transverse colon cancer|Ca transverse colon	http://purl.obolibrary.org/obo/MONDO_0002361	http://identifiers.org/snomedct/363408006|DOID:261|UMLS:C0153434	
MONDO:0002362	biolink:Disease	serous surface papilloma	A non-invasive papillary serous epithelial neoplasm usually arising from the ovary.	DOID:2614|ICDO:8461/0|NCIT:C4181|UMLS:C0334360	mondo.json	serous surface papilloma NOS (morphologic abnormality)|serous surface papilloma (morphologic abnormality)|serous surface papilloma	http://purl.obolibrary.org/obo/MONDO_0002362	DOID:2614|NCIT:C4181|UMLS:C0334360	
MONDO:0002363	biolink:Disease	papilloma	A benign epithelial neoplasm that projects above the surrounding epithelial surface and consists of villous or arborescent outgrowths of fibrovascular stroma.	DOID:2615|MESH:D010212|NCIT:C3713|UMLS:C0030354|SCTID:711329002|ICDO:8050/0|NCIT:C7440	mondo.json	papilloma, benign|papilloma (except papilloma of bladder M-81201) (morphologic abnormality)|papillomatosis NOS (morphologic abnormality)|papilloma	http://purl.obolibrary.org/obo/MONDO_0002363	http://identifiers.org/snomedct/711329002|UMLS:C0030354|NCIT:C7440|http://identifiers.org/mesh/D010212|DOID:2615	
HGNC:11109	biolink:NamedThing	SMARCE1			mondo.json		http://identifiers.org/hgnc/11109		
MONDO:0002364	biolink:Disease	obsolete Wolffian duct adenoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002364		
HGNC:25751	biolink:NamedThing	TRAPPC11			mondo.json		http://identifiers.org/hgnc/25751		
MONDO:0002360	biolink:Disease	chondroma	A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes.	DOID:2602|NCIT:C53459|GARD:0006052|MESH:D002812|ICDO:9220/0|UMLS:C0936248	mondo.json	chondroma|central chondroma|chondroma, benign	http://purl.obolibrary.org/obo/MONDO_0002360	NCIT:C53459|http://identifiers.org/mesh/D002812|DOID:2602|UMLS:C0936248	gard_rare
MONDO:0014336	biolink:Disease	intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency		DOID:0070053|OMIM:615761|UMLS:C3810406|Orphanet:404440	mondo.json	mental retardation, autosomal dominant type 23|intellectual developmental disorder, autosomal dominant 23|autosomal dominant mental retardation 23|intellectual disability, autosomal dominant 23|autosomal dominant intellectual disability 23|mental retardation, autosomal dominant 23|intellectual disability, autosomal dominant type 23|autosomal dominant non-syndromic intellectual disability 23|intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency|MRD23	http://purl.obolibrary.org/obo/MONDO_0014336	Orphanet:404440|https://omim.org/entry/615761|DOID:0070053|UMLS:C3810406	ordo_malformation_syndrome
MONDO:0016999	biolink:Disease	obsolete X chromosome number anomaly		Orphanet:263714	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016999	Orphanet:263714	ordo_group_of_disorders|disease_grouping
HGNC:11115	biolink:NamedThing	KDM5D			mondo.json		http://identifiers.org/hgnc/11115		
MONDO:0014335	biolink:Disease	diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome		OMIM:615760|UMLS:C4014239|Orphanet:404437	mondo.json	microcephaly, progressive, seizures, and cerebral and cerebellar atrophy|microcephaly, progressive, with seizures and cerebral and cerebellar atrophy|diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome|MSCCA	http://purl.obolibrary.org/obo/MONDO_0014335	https://omim.org/entry/615760|Orphanet:404437|UMLS:C4014239	ordo_malformation_syndrome
HGNC:11114	biolink:NamedThing	KDM5C			mondo.json		http://identifiers.org/hgnc/11114		
MONDO:0014334	biolink:Disease	severe combined immunodeficiency due to LCK deficiency		Orphanet:280142|OMIM:615758|UMLS:C4014233	mondo.json	immunodeficiency type 22|IMD22|severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency|immunodeficiency 22|SCID due to LCK deficiency|SCID due to lymphocyte-specific protein tyrosine kinase deficiency	http://purl.obolibrary.org/obo/MONDO_0014334	Orphanet:280142|UMLS:C4014233|https://omim.org/entry/615758	ordo_disease
MONDO:0014333	biolink:Disease	polymicrogyria, bilateral perisylvian, autosomal recessive		UMLS:C3810405|OMIM:615752	mondo.json	BPPR|Pmgr|polymicrogyria, bilateral perisylvian|polymicrogyria, bilateral perisylvian, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0014333	UMLS:C3810405|https://omim.org/entry/615752	
GO:0061534	biolink:NamedThing	gamma-aminobutyric acid secretion, neurotransmission	The regulated release of gamma-aminobutyric acid by a cell, in which the gamma-aminobutyric acid acts as a neurotransmitter.		mondo.json		http://purl.obolibrary.org/obo/GO_0061534		
MONDO:0016995	biolink:Disease	familial multiple meningioma	Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.	UMLS:CN202309|Orphanet:263662	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016995	Orphanet:263662|UMLS:CN202309	ordo_disease
HGNC:11119	biolink:NamedThing	SMO			mondo.json		http://identifiers.org/hgnc/11119		
MONDO:0016996	biolink:Disease	NK-cell enteropathy	Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma.	Orphanet:263665|UMLS:C4509932|SCTID:723496007	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016996	Orphanet:263665|http://identifiers.org/snomedct/723496007|UMLS:C4509932	ordo_disease
MONDO:0014339	biolink:Disease	autosomal recessive spinocerebellar ataxia 16	Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene.	OMIM:615768|UMLS:C4014261|DOID:0080029|Orphanet:412057	mondo.json	spinocerebellar ataxia, autosomal recessive type 16|autosomal recessive spinocerebellar ataxia 16|spinocerebellar ataxia autosomal recessive type 16|STUB1 autosomal recessive cerebellar ataxia|spinocerebellar ataxia, autosomal recessive 16|autosomal recessive cerebellar ataxia due to STUB1 deficiency|autosomal recessive cerebellar ataxia caused by mutation in STUB1|autosomal recessive spinocerebellar ataxia type 16|SCAR16	http://purl.obolibrary.org/obo/MONDO_0014339	https://omim.org/entry/615768|Orphanet:412057|DOID:0080029|UMLS:C4014261	ordo_disease
HGNC:11118	biolink:NamedThing	SMN2			mondo.json		http://identifiers.org/hgnc/11118		
GO:0061535	biolink:NamedThing	glutamate secretion, neurotransmission	The controlled release of glutamate by a cell, in which the glutamate acts as a neurotransmitter.		mondo.json		http://purl.obolibrary.org/obo/GO_0061535		
MONDO:0014338	biolink:Disease	IL21-related infantile inflammatory bowel disease		Orphanet:477661|UMLS:C4014258|OMIM:615767	mondo.json	immunodeficiency, common variable, 11|immunodeficiency, common variable, type 11|IL21-related infantile IBD|CVID11|IL21 deficiency	http://purl.obolibrary.org/obo/MONDO_0014338	https://omim.org/entry/615767|UMLS:C4014258|Orphanet:477661	ordo_disease
MONDO:0016997	biolink:Disease	obsolete hereditary epidermolysis bullosa associated with ocular features		Orphanet:263676	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016997	Orphanet:263676	disease_grouping|ordo_group_of_disorders
HGNC:11117	biolink:NamedThing	SMN1			mondo.json		http://identifiers.org/hgnc/11117		
MONDO:0014337	biolink:Disease	complex cortical dysplasia with other brain malformations 5	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene.	UMLS:C3810407|OMIM:615763|DOID:0090135	mondo.json	TUBB2A complex cortical dysplasia with other brain malformations|cortical dysplasia, complex, with other brain malformations 5|complex cortical dysplasia with other brain malformations caused by mutation in TUBB2A|complex cortical dysplasia with other brain malformations type 5|cortical dysplasia, Complex, with Other brain malformations type 5|CDCBM5	http://purl.obolibrary.org/obo/MONDO_0014337	https://omim.org/entry/615763|UMLS:C3810407|DOID:0090135	
MONDO:0016998	biolink:Disease	obsolete complex chromosomal rearrangement		Orphanet:263708	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016998	Orphanet:263708	ordo_group_of_disorders|disease_grouping
MONDO:0016991	biolink:Disease	acute necrotizing encephalopathy of childhood	Acute necrotizing encephalopathy of childhood is a rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.	Orphanet:263524|SCTID:763310000	mondo.json	isolated acute necrotizing encephalopathy|ANEC|isolated ANE	http://purl.obolibrary.org/obo/MONDO_0016991	http://identifiers.org/snomedct/763310000|Orphanet:263524	ordo_disease
MONDO:0016992	biolink:Disease	obsolete peeling skin syndrome type B			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016992		
HGNC:13771	biolink:NamedThing	SOST			mondo.json		http://identifiers.org/hgnc/13771		
MONDO:0016993	biolink:Disease	generalized peeling skin syndrome type C		Orphanet:263558|UMLS:CN202307	mondo.json	peeling skin syndrome type C|generalized deciduous skin type C	http://purl.obolibrary.org/obo/MONDO_0016993	Orphanet:263558|UMLS:CN202307	ordo_clinical_subtype
MONDO:0016994	biolink:Disease	microcephalic osteodysplastic primordial dwarfism types I and III	Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.	UMLS:CN202308|GARD:0005120|SCTID:725461009|Orphanet:2636	mondo.json	MOPD 1|Cephaloskeletal dysplasia|primordial microcephalic dwarfism, Crachami type|microcephalic osteodysplastic primordial dwarfism type 1|Brachymelic primordial dwarfism|osteodysplastic primordial dwarfism type I|MOPD types I and III|Taybi-Linder syndrome|microcephalic osteodysplastic primordial dwarfism types 1 and 3|microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type|low-birth-weight dwarfism with skeletal dysplasia	http://purl.obolibrary.org/obo/MONDO_0016994	UMLS:CN202308|Orphanet:2636|http://identifiers.org/snomedct/725461009	ordo_malformation_syndrome|gard_rare
MONDO:0014332	biolink:Disease	hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency		Orphanet:401948|UMLS:C3810404|SCTID:764456001|GARD:0013201|OMIM:615751	mondo.json	carbonic anhydrase VA deficiency, hyperammonemia due to|carbonic anhydrase VA deficiency|CA-VA deficiency|hyperammonemia due to carbonic anhydrase VA deficiency|hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency|carbonic anhydrase 5A deficiency, hyperammonemia due to|CA5AD|mitochondrial carbonic anhydrase va deficiency	http://purl.obolibrary.org/obo/MONDO_0014332	UMLS:C3810404|Orphanet:401948|http://identifiers.org/snomedct/764456001|https://omim.org/entry/615751	ordo_disease
HGNC:11111	biolink:NamedThing	SMC1A			mondo.json		http://identifiers.org/hgnc/11111		
MONDO:0014331	biolink:Disease	Moyamoya disease with early-onset achalasia	Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.	UMLS:C3810403|Orphanet:401945|SCTID:718551002|OMIM:615750	mondo.json	Moyamoya disease 6 with achalasia|MYMY6|moyamoya 6 with achalasia	http://purl.obolibrary.org/obo/MONDO_0014331	UMLS:C3810403|Orphanet:401945|http://identifiers.org/snomedct/718551002|https://omim.org/entry/615750	ordo_disease
HGNC:11110	biolink:NamedThing	ARID1A			mondo.json		http://identifiers.org/hgnc/11110		
MONDO:0014330	biolink:Disease	obsolete eculizumab, poor response to		UMLS:C3810402|OMIM:615749	mondo.json	eculizumab, poor response to	http://purl.obolibrary.org/obo/MONDO_0014330	UMLS:C3810402|https://omim.org/entry/615749	
MONDO:0016990	biolink:Disease	acquired prothrombin deficiency	An instance of prothrombin deficiency that is acquired during the lifetime of the individual.	SCTID:4152002|MESH:C538174|GARD:0000475|UMLS:C0392610|NCIT:C131622|Orphanet:26348	mondo.json	hypoprothrombinemia, acquired|acquired factor II deficiency|acquired prothrombin deficiency|acquired hypoprothrombinemia	http://purl.obolibrary.org/obo/MONDO_0016990	UMLS:C0392610|http://identifiers.org/mesh/C538174|http://identifiers.org/snomedct/4152002|Orphanet:26348|NCIT:C131622	ordo_disease
HGNC:25843	biolink:NamedThing	ZNF750			mondo.json		http://identifiers.org/hgnc/25843		
NCBITaxon:34064	biolink:OrganismalEntity	Francisellaceae		PMID:26747442|GC_ID:11|PMID:22939414	mondo.json	Francisella group	http://purl.obolibrary.org/obo/NCBITaxon_34064		
UBERON:0001668	biolink:AnatomicalEntity	cerebellar vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001668		
CHEBI:26666	biolink:ChemicalSubstance	short-chain fatty acid	An aliphatic monocarboxylic acid with a chain length of less than C6. If any non-hydrocarbon substituent is present, the compound is not normally regarded as a short-chain fatty acid.		mondo.json	SCFAs|short-chain fatty acids|SCFA	http://purl.obolibrary.org/obo/CHEBI_26666		
NCBITaxon:2759	biolink:OrganismalEntity	Eukaryota		PMID:30257078|PMID:23020233|GC_ID:1	mondo.json	Eucaryotae|eukaryotes|Eucarya|eukaryotes|Eukaryotae|Eukarya|eucaryotes	http://purl.obolibrary.org/obo/NCBITaxon_2759		
HGNC:11201	biolink:NamedThing	SOX5			mondo.json		http://identifiers.org/hgnc/11201		
NCBITaxon:10090	biolink:OrganismalEntity	Mus musculus		GC_ID:1	mondo.json	mouse|house mouse	http://purl.obolibrary.org/obo/NCBITaxon_10090		
HGNC:11204	biolink:NamedThing	SOX9			mondo.json		http://identifiers.org/hgnc/11204		
UBERON:0001675	biolink:AnatomicalEntity	trigeminal ganglion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001675		
UBERON:0001677	biolink:AnatomicalEntity	sphenoid bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001677		
HGNC:25839	biolink:NamedThing	GRHL3			mondo.json		http://identifiers.org/hgnc/25839		
HGNC:13861	biolink:NamedThing	LZTS1			mondo.json		http://identifiers.org/hgnc/13861		
UBERON:0001676	biolink:AnatomicalEntity	occipital bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001676		
UBERON:0001673	biolink:AnatomicalEntity	central retinal vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001673		
MONDO:0004801	biolink:Disease	unilateral hypoactive labyrinth		DOID:9496|ICD9:386.53|UMLS:C0155517	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004801	UMLS:C0155517|DOID:9496	
CHEBI:75603	biolink:ChemicalSubstance	EC 6.* (ligase) inhibitor	Any enzyme inhibitor that interferes with the action of a ligase (EC 6.*.*.*). Ligases are enzymes that catalyse the joining of two molecules with concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate.		mondo.json	ligase inhibitor|EC 6.*.*.* inhibitor|EC 6.* (ligase) inhibitors|EC 6.*.*.* inhibitors|ligase inhibitors|EC 6.* inhibitor|EC 6.* inhibitors	http://purl.obolibrary.org/obo/CHEBI_75603		
MONDO:0004800	biolink:Disease	chronic dacryoadenitis	Chronic form of dacryoadenitis.	DOID:949|SCTID:4760008|UMLS:C0155224|ICD9:375.02	mondo.json	dacryoadenitis, chronic	http://purl.obolibrary.org/obo/MONDO_0004800	http://identifiers.org/snomedct/4760008|DOID:949|UMLS:C0155224	
MONDO:0004803	biolink:Disease	disseminated eosinophilic collagen disease		SCTID:423486005|UMLS:C0263662|ICD9:710.8|DOID:9499	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004803	http://identifiers.org/snomedct/423486005|UMLS:C0263662|DOID:9499	
CHEBI:75600	biolink:ChemicalSubstance	EC 6.3.* (C-N bond-forming ligase) inhibitor	A ligase inhibitor that interferes with the action of a C-N bond-forming ligase (EC 6.3.*.*).		mondo.json	C-N bond-forming ligase inhibitors|EC 6.3.* inhibitor|C-N bond-forming ligase (EC 6.3.*) inhibitor|EC 6.3.* (C-N bond-forming ligase) inhibitorS|EC 6.3.*.* inhibitor|C--N bond-forming ligase inhibitor|C--N bond-forming ligase inhibitors|EC 6.3.*.* inhibitors|C-N bond-forming ligase (EC 6.3.*) inhibitors|EC 6.3.* inhibitors|C-N bond-forming ligase inhibitor	http://purl.obolibrary.org/obo/CHEBI_75600		
MONDO:0004802	biolink:Disease	pulmonary eosinophilia	A condition characterized by infiltration of the lung with eosinophils due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents.	MESH:D011657|ICD9:518.3|SCTID:367542003|UMLS:C0034068|DOID:9498	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004802	http://identifiers.org/mesh/D011657|UMLS:C0034068|http://identifiers.org/snomedct/367542003|DOID:9498	
NCBITaxon:1933309	biolink:OrganismalEntity	Oropouche orthobunyavirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1933309		
CHEBI:26677	biolink:ChemicalSubstance	silicon molecular entity			mondo.json	silicon compounds|silicon molecular entities|silicon molecular entity	http://purl.obolibrary.org/obo/CHEBI_26677		
UBERON:0013645	biolink:AnatomicalEntity	gular gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013645		
HGNC:11212	biolink:NamedThing	SPAG1			mondo.json		http://identifiers.org/hgnc/11212		
UBERON:0013636	biolink:AnatomicalEntity	epithelium of intestinal villus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013636		
UBERON:0013637	biolink:AnatomicalEntity	prostate gland lateral lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013637		
HGNC:13875	biolink:NamedThing	FOXP2			mondo.json		http://identifiers.org/hgnc/13875		
UBERON:0001663	biolink:AnatomicalEntity	cerebral vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001663		
HGNC:13872	biolink:NamedThing	RIPOR2			mondo.json		http://identifiers.org/hgnc/13872		
UBERON:0001665	biolink:AnatomicalEntity	triceps surae			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001665		
UBERON:0001649	biolink:AnatomicalEntity	glossopharyngeal nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001649		
UBERON:0001646	biolink:AnatomicalEntity	abducens nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001646		
UBERON:0001645	biolink:AnatomicalEntity	trigeminal nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001645		
UBERON:0001648	biolink:AnatomicalEntity	vestibulocochlear nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001648		
UBERON:0001647	biolink:AnatomicalEntity	facial nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001647		
UBERON:0013631	biolink:AnatomicalEntity	sesamoid element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013631		
UBERON:0013632	biolink:AnatomicalEntity	sesamoid cartilage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013632		
CL:1001569	biolink:Cell	hippocampal interneuron	An interneuron of the hippocampus.	FMA:84777	mondo.json		http://purl.obolibrary.org/obo/CL_1001569		
CL:1001568	biolink:Cell	pulmonary artery endothelial cell		BTO:0001141	mondo.json	PAEC cell	http://purl.obolibrary.org/obo/CL_1001568		
CL:1001567	biolink:Cell	lung endothelial cell			mondo.json	endothelial cell of lung|pulmonary vessel endothelial cell	http://purl.obolibrary.org/obo/CL_1001567		
UBERON:0013630	biolink:AnatomicalEntity	short bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013630		
HGNC:13841	biolink:NamedThing	ADGRG6			mondo.json		http://identifiers.org/hgnc/13841		
UBERON:0001653	biolink:AnatomicalEntity	facial vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001653		
UBERON:0001652	biolink:AnatomicalEntity	left pulmonary artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001652		
UBERON:0001651	biolink:AnatomicalEntity	right pulmonary artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001651		
UBERON:0001650	biolink:AnatomicalEntity	hypoglossal nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001650		
NCBITaxon:10088	biolink:OrganismalEntity	Mus <genus>		GC_ID:1	mondo.json	mice|mouse|Mus	http://purl.obolibrary.org/obo/NCBITaxon_10088		
UBERON:0001638	biolink:AnatomicalEntity	vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001638		
UBERON:0001635	biolink:AnatomicalEntity	superior cerebellar artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001635		
UBERON:0001637	biolink:AnatomicalEntity	artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001637		
UBERON:0001636	biolink:AnatomicalEntity	posterior cerebral artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001636		
HP:0033479	biolink:PhenotypicFeature	Abnormal circulating bilirubin concentration			mondo.json		http://purl.obolibrary.org/obo/HP_0033479		
CHEBI:38633	biolink:ChemicalSubstance	sodium channel blocker	An agent that inhibits sodium influx through cell membranes.		mondo.json	Na channel blocker|sodium channel blockers	http://purl.obolibrary.org/obo/CHEBI_38633		
CHEBI:38632	biolink:ChemicalSubstance	membrane transport modulator	Any agent that affects the transport of molecular entities across a biological membrane.		mondo.json	membrane transport modulators	http://purl.obolibrary.org/obo/CHEBI_38632		
UBERON:0001641	biolink:AnatomicalEntity	transverse sinus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001641		
UBERON:0001644	biolink:AnatomicalEntity	trochlear nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001644		
UBERON:0001643	biolink:AnatomicalEntity	oculomotor nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001643		
UBERON:0001640	biolink:AnatomicalEntity	celiac artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001640		
MONDO:0004834	biolink:Disease	ischemic fasciitis	A reactive, painless lesion which is characterized by a pseudosarcomatous proliferation of fibroblasts and myofibroblasts usually in the deep subcutaneous tissue. It occurs mainly around the limb girdles, sacral region, and greater trochanter. It affects mainly elderly patients and sometimes is associated with physical immobility. Local excision is usually curative.	NCIT:C6483|DOID:9601|SCTID:403990005|UMLS:C1304514	mondo.json	atypical decubital fibroplasia	http://purl.obolibrary.org/obo/MONDO_0004834	NCIT:C6483|http://identifiers.org/snomedct/403990005|DOID:9601|UMLS:C1304514	
MONDO:0004833	biolink:Disease	plantar fasciitis	Inflammation of the thick tissue on the bottom of the foot (plantar fascia) causing heel pain. The plantar fascia (also called plantar aponeurosis) are bands of fibrous tissue extending from the calcaneal tuberosity to the toes. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with heel spur, they do not appear to be causally related.	MESH:D036981|EFO:1001909|DOID:9600|UMLS:C0149756|SCTID:202882003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004833	http://identifiers.org/snomedct/202882003|http://identifiers.org/mesh/D036981|DOID:9600|UMLS:C0149756	
MONDO:0004836	biolink:Disease	intravascular fasciitis	A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the vessels. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.	NCIT:C4729|DOID:9603|SCTID:254738007|UMLS:C0432529|ICD9:728.79	mondo.json	intravascular pseudosarcomatous fasciitis|intravascular nodular fasciitis	http://purl.obolibrary.org/obo/MONDO_0004836	http://identifiers.org/snomedct/254738007|UMLS:C0432529|DOID:9603|NCIT:C4729	
MONDO:0004835	biolink:Disease	necrotizing fasciitis	Necrotizing fasciitis is a serious infection of the skin, the tissue just beneath the skin (subcutaneous tissue), and the tissue that covers internal organs (fascia). Necrotizing fasciitis can be caused by several different types of bacteria, and the infection can arise suddenly and spread quickly. Early signs include flu-like symptoms and redness and pain around the infection site. A prompt diagnosis and treatment are essential.If the infection is not treated promptly, it can lead to multiple organ failure and death. Treatment typically includes intravenous (IV) antibiotics and surgery to remove infected and dead tissue.	MESH:D019115|ICD9:728.86|DOID:9602|GARD:0006454|UMLS:C0238124|OMIM:607395|NCIT:C84916|ICD10CM:M72.6|SCTID:52486002	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004835	http://identifiers.org/mesh/D019115|http://purl.bioontology.org/ontology/ICD10CM/M72.6|DOID:9602|NCIT:C84916|UMLS:C0238124|http://identifiers.org/snomedct/52486002	gard_rare
MONDO:0004830	biolink:Disease	fasciitis	Inflammation process in fascia.	HP:0100537|NCIT:C50559|DOID:9598|UMLS:C0015645|MESH:D005208|ICD9:729.4|SCTID:36948007	mondo.json	Fascitis|fasciitis|fasciitis (disease)|fascia inflammation|inflammation of fascia	http://purl.obolibrary.org/obo/MONDO_0004830	http://identifiers.org/snomedct/36948007|NCIT:C50559|http://identifiers.org/mesh/D005208|DOID:9598|UMLS:C0015645	
MONDO:0004832	biolink:Disease	esophagus leiomyoma	A benign smooth muscle neoplasm arising from the lower part of the esophagus. It is the most common mesenchymal neoplasm of the esophagus. Dysphagia is a frequent clinical symptom.	DOID:960|UMLS:C0238114|NCIT:C3866|SCTID:276805005	mondo.json	esophagus leiomyoma|leiomyoma of the esophagus|leiomyoma of esophagus|esophageal leiomyoma	http://purl.obolibrary.org/obo/MONDO_0004832	DOID:960|http://identifiers.org/snomedct/276805005|UMLS:C0238114|NCIT:C3866	
MONDO:0004831	biolink:Disease	proliferative fasciitis	A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the subcutaneous tissues. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize.	UMLS:C0432528|DOID:9599|SCTID:254737002|NCIT:C4728	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004831	http://identifiers.org/snomedct/254737002|UMLS:C0432528|DOID:9599|NCIT:C4728	
HGNC:25801	biolink:NamedThing	CPLANE1			mondo.json		http://identifiers.org/hgnc/25801		
UBERON:0013697	biolink:AnatomicalEntity	exocrine pancreas epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013697		
UBERON:0013699	biolink:AnatomicalEntity	strand of axillary hair			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013699		
HP:0033401	biolink:PhenotypicFeature	Tissue ischemia	Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion.		mondo.json		http://purl.obolibrary.org/obo/HP_0033401		
HGNC:13815	biolink:NamedThing	BCO1			mondo.json		http://identifiers.org/hgnc/13815		
MONDO:0016816	biolink:Disease	Leigh syndrome with nephrotic syndrome		Orphanet:255249|UMLS:CN202084	mondo.json	Leigh disease with nephrotic syndrome|infantile subacute necrotizing encephalopathy with nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0016816	Orphanet:255249|UMLS:CN202084	ordo_disease
MONDO:0016817	biolink:Disease	Meier-Gorlin syndrome	Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).	MESH:C538012|MedDRA:10070612|OMIMPS:224690|GARD:0002033|Orphanet:2554|DOID:0060306	mondo.json	ear-patella-short stature syndrome|Meier-Gorlin syndrome	http://purl.obolibrary.org/obo/MONDO_0016817	Orphanet:2554|https://omim.org/phenotypicSeries/PS224690|DOID:0060306|http://identifiers.org/mesh/C538012	ordo_malformation_syndrome
UBERON:0013694	biolink:AnatomicalEntity	brain endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013694		
UBERON:0013695	biolink:AnatomicalEntity	colon endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013695		
MONDO:0016818	biolink:Disease	Mikati-Najjar-Sahli syndrome	Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).	Orphanet:2558|UMLS:CN202088	mondo.json	microcephaly-hypergonadotropic hypogonadism-short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0016818	Orphanet:2558|UMLS:CN202088	ordo_malformation_syndrome
MONDO:0016819	biolink:Disease	Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome	This syndrome is characterized by the association of MC6bius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism.	UMLS:C2931024|Orphanet:2560	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016819	Orphanet:2560|UMLS:C2931024	ordo_malformation_syndrome
HGNC:13818	biolink:NamedThing	SLC12A5			mondo.json		http://identifiers.org/hgnc/13818		
UBERON:0013696	biolink:AnatomicalEntity	tonsil epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013696		
MONDO:0016823	biolink:Disease	mycetoma	Mycetomas are subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains.	MedDRA:10028427|SCTID:410039003|NCIT:C85505|GARD:0003862|Orphanet:2583|ICD10CM:B47|MESH:D008271|UMLS:C0024449	mondo.json	Madura foot	http://purl.obolibrary.org/obo/MONDO_0016823	http://identifiers.org/mesh/D008271|http://identifiers.org/snomedct/410039003|http://purl.bioontology.org/ontology/ICD10CM/B47|UMLS:C0024449|NCIT:C85505|Orphanet:2583	ordo_disease
MONDO:0016824	biolink:Disease	infantile myofibromatosis	A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma.	ICDO:8824/1|MESH:D018224|OMIMPS:228550|UMLS:C0206648|ONCOTREE:IMS|DOID:0080109|Orphanet:2591|NCIT:C3742|GARD:0002998	mondo.json	myofibromatosis|infantile hemangiopericytoma|infantile myofibromatosis|multicentric myofibromatosis|IMS	http://purl.obolibrary.org/obo/MONDO_0016824	UMLS:C0206648|http://identifiers.org/mesh/D018224|https://omim.org/phenotypicSeries/PS228550|NCIT:C3742|Orphanet:2591|DOID:0080109	gard_rare|ordo_disease
MONDO:0016825	biolink:Disease	mitochondrial myopathy-lactic acidosis-deafness syndrome	Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.	OMIM:251950|Orphanet:2597|MESH:C537476|GARD:0003682	mondo.json	mitochondrial myopathy with lactic acidosis|mitochondrial myopathy-lactic acidosis-hearing loss syndrome|MMLA|metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness	http://purl.obolibrary.org/obo/MONDO_0016825	http://identifiers.org/mesh/C537476|https://omim.org/entry/251950|Orphanet:2597	gard_rare|ordo_disease
MONDO:0016826	biolink:Disease	methylmalonic aciduria and homocystinuria	An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).	OMIMPS:277400|Orphanet:26|GARD:0003579|MESH:C537359	mondo.json	combined defect in adenosylcobalamin and methylcobalamin synthesis|methylmalonic aciduria with homocystinuria|methylmalonic acidemia and homocystinemia	http://purl.obolibrary.org/obo/MONDO_0016826	http://identifiers.org/mesh/C537359|https://omim.org/phenotypicSeries/PS277400|Orphanet:26	ordo_disease|gard_rare
HGNC:13825	biolink:NamedThing	ASPSCR1			mondo.json		http://identifiers.org/hgnc/13825		
MONDO:0016820	biolink:Disease	Moyamoya disease	Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.	UMLS:C0026654|ICD9:437.5|MedDRA:10028047|MESH:D009072|SCTID:89142007|Orphanet:2573|DOID:13099|NCIT:C84895|GARD:0007064|OMIMPS:252350	mondo.json	progressive intracranial arterial occlusion|MYMY|Moyamoya disease, secondary|Moyamoya disease, primary|idiopathic Moyamoya disease	http://purl.obolibrary.org/obo/MONDO_0016820	DOID:13099|http://identifiers.org/snomedct/89142007|https://omim.org/phenotypicSeries/PS252350|NCIT:C84895|http://identifiers.org/mesh/D009072|Orphanet:2573|UMLS:C0026654	ordo_disease
MONDO:0016821	biolink:Disease	shoulder and girdle defects-familial intellectual disability syndrome		UMLS:CN227007|GARD:0004860|Orphanet:2580	mondo.json	shoulder girdle defect mental retardation familial|shoulder girdle defect intellectual disability familial	http://purl.obolibrary.org/obo/MONDO_0016821	UMLS:CN227007	ordo_malformation_syndrome
MONDO:0016822	biolink:Disease	myalgia-eosinophilia syndrome associated with tryptophan	A rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities.	Orphanet:2582|MESH:D016603|MedDRA:10014952	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016822	Orphanet:2582	ordo_malformation_syndrome
MONDO:0004827	biolink:Disease	esophagus squamous cell papilloma	A rare neoplasm arising from the distal third of the esophagus. Morphologically, it is characterized by the presence of fibrovascular cores covered by mature stratified squamous epithelium. Progression to squamous cell carcinoma is extremely rare.	DOID:959|UMLS:C1333467|NCIT:C5344	mondo.json	squamous cell papilloma of the esophagus|squamous cell papilloma of esophagus|esophageal squamous papilloma|esophagus squamous papilloma|esophagus squamous cell papilloma	http://purl.obolibrary.org/obo/MONDO_0004827	UMLS:C1333467|DOID:959|NCIT:C5344	
MONDO:0004826	biolink:Disease	urethral calculus	A concretion in the urethra.	SCTID:20342001|ICD9:594.2|DOID:9589|UMLS:C0162301	mondo.json	urolithiasis of urethra|urethral Stone|urethra urolithiasis	http://purl.obolibrary.org/obo/MONDO_0004826	UMLS:C0162301|DOID:9589|http://identifiers.org/snomedct/20342001	
MONDO:0004829	biolink:Disease	Krukenberg carcinoma	Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast.	NCIT:C3153|UMLS:C0022790|MESH:D007725|SCTID:359987004|GARD:0008627|DOID:9597|EFO:1000316	mondo.json	Krukenberg tumor|Krukenberg’s tumor|Krukenberg neoplasm	http://purl.obolibrary.org/obo/MONDO_0004829	http://identifiers.org/mesh/D007725|DOID:9597|UMLS:C0022790|http://identifiers.org/snomedct/359987004|NCIT:C3153	
MONDO:0004828	biolink:Disease	lower urinary tract calculus	A urolithiasis that involves the lower urinary tract.	ICD9:594.8|ICD10CM:N21.9|ICD10CM:N21|ICD9:594.9|DOID:9590|ICD9:594|SCTID:79509009|UMLS:C0156264	mondo.json	urolithiasis of lower urinary tract|lower urinary tract urolithiasis	http://purl.obolibrary.org/obo/MONDO_0004828	UMLS:C0156264|http://purl.bioontology.org/ontology/ICD10CM/N21.9|http://identifiers.org/snomedct/79509009|DOID:9590	
MONDO:0004845	biolink:Disease	aphthous stomatitis	A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring.	GARD:0005834|DOID:9663|ICD9:528.2	mondo.json	aphthous ulceration|oral ulcer|oral aphthous ulcer|oral aphthae|aphtha|canker sore	http://purl.obolibrary.org/obo/MONDO_0004845	DOID:9663	gard_rare
MONDO:0004844	biolink:Disease	oral mucosa leukoplakia	A white patch or plaque on the oral mucosa that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition.	SCTID:414603003|NCIT:C3187|UMLS:C0023532|MESH:D007972|GARD:0007260|DOID:9655|ICD9:528.6	mondo.json	leukokeratosis of oral mucosa|leukoplakia of the oral mucosa|leukoplakia of oral mucosa|oral leukoplakia|oral keratoses|oral keratosis	http://purl.obolibrary.org/obo/MONDO_0004844	http://identifiers.org/mesh/D007972|UMLS:C0023532|http://identifiers.org/snomedct/414603003|DOID:9655|NCIT:C3187	
MONDO:0004847	biolink:Disease	senile cataract	A cataract with no obvious cause occurring in persons over 50 years old.	DOID:9669|ICD9:366.10|ICD9:366.1|SCTID:39450006|NCIT:C35012	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004847	http://identifiers.org/snomedct/39450006|DOID:9669|NCIT:C35012	
MONDO:0004846	biolink:Disease	placental abruption	Vaginal bleeding preceding the 20th week of gestation.	NCIT:C26685|DOID:9667|ICD9:640.03|ICD9:640.0|ICD9:641.20|MESH:D000037|EFO:1001754|HP:0011419|SCTID:415105001	mondo.json	placental abruption|placental abruption (disease)|abruptio placentae|Abruptio placentae, premature separation of placenta|abruptio placenta|premature separation of placenta	http://purl.obolibrary.org/obo/MONDO_0004846	http://identifiers.org/snomedct/415105001|NCIT:C26685|DOID:9667|http://identifiers.org/mesh/D000037	
MONDO:0004841	biolink:Disease	kidney hypertrophy	Global enlargement of the renal parenchyma in one or both kidneys.	DOID:9622|SCTID:88531004|ICD10CM:N28.81|NCIT:C122991|UMLS:C0156259|ICD9:593.1	mondo.json	renal Hypertrophy|hypertrophy of the kidney	http://purl.obolibrary.org/obo/MONDO_0004841	UMLS:C0156259|http://purl.bioontology.org/ontology/ICD10CM/N28.81|DOID:9622|http://identifiers.org/snomedct/88531004|NCIT:C122991	
HGNC:25815	biolink:NamedThing	CEP63			mondo.json		http://identifiers.org/hgnc/25815		
MONDO:0004840	biolink:Disease	non-congenital cyst of kidney		DOID:9621|ICD9:593.2|UMLS:C0268799|SCTID:105999006	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004840	DOID:9621|http://identifiers.org/snomedct/105999006|UMLS:C0268799	
MONDO:0004843	biolink:Disease	pathologic nystagmus	Involuntary movements of the eyeballs. The presence or absence of nystagmus is often used in the diagnosis of a variety of neurological and visual disorders.	MESH:D009759|DOID:9650|ICD9:379.50|UMLS:C0028738	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004843	DOID:9650|UMLS:C0028738|http://identifiers.org/mesh/D009759	
MONDO:0004842	biolink:Disease	stomatitis	Inflammation of the oral mucosa due to local or systemic factors.	DOID:9637|MESH:D013280|UMLS:C1568868|EFO:1001904|SCTID:61170000|NCIT:C26887|ICD9:528.0|ICD9:528.00|UMLS:C0038362	mondo.json	oral mucositis|inflammation of mouth mucosa|mouth mucosa inflammation|mucositis oral	http://purl.obolibrary.org/obo/MONDO_0004842	http://identifiers.org/snomedct/61170000|NCIT:C26887|DOID:9637|http://identifiers.org/mesh/D013280|UMLS:C0038362|UMLS:C1568868	
HGNC:25812	biolink:NamedThing	SRD5A3			mondo.json		http://identifiers.org/hgnc/25812		
MONDO:0016809	biolink:Disease	spinocerebellar ataxia with epilepsy		UMLS:CN202060|UMLS:C1843852|Orphanet:254881|MESH:C564395	mondo.json	SCAE|MSCAE|mitochondrial spinocerebellar ataxia with epilepsy	http://purl.obolibrary.org/obo/MONDO_0016809	UMLS:CN202060|UMLS:C1843852|http://identifiers.org/mesh/C564395|Orphanet:254881	ordo_disease
UBERON:0013686	biolink:AnatomicalEntity	anatomical conduit space			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013686		
NCBITaxon:85604	biolink:OrganismalEntity	Amphiesmenoptera		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_85604		
UBERON:0013687	biolink:AnatomicalEntity	pericranium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013687		
UBERON:0013689	biolink:AnatomicalEntity	appendix lymphoid tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013689		
MONDO:0016805	biolink:Disease	isolated oxidative phosphorylation complex disorder		UMLS:CN227005|Orphanet:254846	mondo.json	isolated respiratory chain complex disorder	http://purl.obolibrary.org/obo/MONDO_0016805	Orphanet:254846|UMLS:CN227005	disease_grouping|ordo_group_of_disorders
MONDO:0016806	biolink:Disease	maternally-inherited mitochondrial dystonia	Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.	UMLS:C4274074|Orphanet:254851|SCTID:717054001	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016806	Orphanet:254851|http://identifiers.org/snomedct/717054001|UMLS:C4274074	ordo_disease
MONDO:0016807	biolink:Disease	pure mitochondrial myopathy	Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes.	Orphanet:254854|UMLS:C4517289|SCTID:732245008	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016807	UMLS:C4517289|http://identifiers.org/snomedct/732245008|Orphanet:254854	ordo_disease
MONDO:0016808	biolink:Disease	mitochondrial DNA depletion syndrome, hepatocerebral form		UMLS:CN069134|Orphanet:254871|UMLS:C3711385|MESH:C580039	mondo.json	deoxyguanosine kinase deficiency|mtDNA depletion syndrome, hepatocerebral form	http://purl.obolibrary.org/obo/MONDO_0016808	UMLS:CN069134|UMLS:C3711385|Orphanet:254871|http://identifiers.org/mesh/C580039	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
UBERON:0013685	biolink:AnatomicalEntity	foramen of skull			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013685		
HGNC:13829	biolink:NamedThing	WNT10A			mondo.json		http://identifiers.org/hgnc/13829		
MONDO:0016812	biolink:Disease	dopa-responsive dystonia	Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.	UMLS:C1851920|GARD:0009817|MESH:C538007|NCIT:C116719|Orphanet:255|SCTID:230332007	mondo.json	DYT5|DYT-GCH1 (subtype)|DYT-TH (subtype)|Segawa's disease|dopa-responsive dystonia|DYT5 dystonia|hereditary progressive dystonia with diurnal fluctuation|DYT-SPR (subtype)|HPD with diurnal fluctuation	http://purl.obolibrary.org/obo/MONDO_0016812	Orphanet:255|NCIT:C116719|http://identifiers.org/snomedct/230332007|http://identifiers.org/mesh/C538007|UMLS:C1851920	disease_grouping|ordo_group_of_disorders
MONDO:0016813	biolink:Disease	obsolete microsporidiosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016813		
MONDO:0016814	biolink:Disease	maternally-inherited Leigh syndrome	Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.	SCTID:717052002|Orphanet:255210|MESH:C536035|GARD:0003671	mondo.json	maternally-inherited Leigh disease|Leigh disease, maternally inherited|MILS|Subacute necrotizing encephalomyelopathy maternally inherited|mitochondrial DNA-associated Leigh syndrome|maternally inherited Leigh syndrome|maternally-inherited infantile subacute necrotizing encephalopathy	http://purl.obolibrary.org/obo/MONDO_0016814	Orphanet:255210|http://identifiers.org/mesh/C536035|http://identifiers.org/snomedct/717052002	ordo_disease
MONDO:0016815	biolink:Disease	Leigh syndrome with leukodystrophy		Orphanet:255241|UMLS:CN202083	mondo.json	infantile subacute necrotizing encephalopathy with leukodystrophy|Leigh disease with leukodystrophy	http://purl.obolibrary.org/obo/MONDO_0016815	Orphanet:255241|UMLS:CN202083	ordo_disease
HGNC:13830	biolink:NamedThing	CNTNAP2			mondo.json		http://identifiers.org/hgnc/13830		
MONDO:0016810	biolink:Disease	autosomal recessive progressive external ophthalmoplegia	Autosomal recessive form of progressive external ophthalmoplegia.	ICD10CM:H49.4|MESH:C564926|Orphanet:254886	mondo.json	progressive external ophthalmoplegia, autosomal recessive|arPEO	http://purl.obolibrary.org/obo/MONDO_0016810	Orphanet:254886|http://identifiers.org/mesh/C564926	ordo_disease
HGNC:13831	biolink:NamedThing	WDR11			mondo.json		http://identifiers.org/hgnc/13831		
MONDO:0016811	biolink:Disease	renal tubulopathy-encephalopathy-liver failure syndrome	Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders.	UMLS:CN202065|Orphanet:254902	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016811	Orphanet:254902|UMLS:CN202065	ordo_disease
HGNC:25808	biolink:NamedThing	FAM161A			mondo.json		http://identifiers.org/hgnc/25808		
MONDO:0004838	biolink:Disease	orthostatic proteinuria		DOID:9617|UMLS:C0232867|ICD9:593.6	mondo.json	postural albuminuria	http://purl.obolibrary.org/obo/MONDO_0004838	DOID:9617|UMLS:C0232867	
MONDO:0004837	biolink:Disease	neurofibroma of the esophagus	A non-metastasizing encapsulated neoplasm arising from nerves in the esophagus. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells.	DOID:961|NCIT:C5704|UMLS:C1333463	mondo.json	neurofibroma of the esophagus|esophagus neurofibroma|neurofibroma of esophagus|esophageal neurofibroma	http://purl.obolibrary.org/obo/MONDO_0004837	DOID:961|NCIT:C5704|UMLS:C1333463	
MONDO:0004839	biolink:Disease	obsolete neurofibroma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004839		
MONDO:0004812	biolink:Disease	acute dacryoadenitis	Acute form of dacryoadenitis.	SCTID:2589008|ICD9:375.01|DOID:952|UMLS:C0149505	mondo.json	dacryoadenitis, acute	http://purl.obolibrary.org/obo/MONDO_0004812	DOID:952|http://identifiers.org/snomedct/2589008|UMLS:C0149505	
MONDO:0004811	biolink:Disease	simple chronic conjunctivitis		ICD9:372.11|SCTID:8211008|DOID:9512|UMLS:C0155146	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004811	UMLS:C0155146|DOID:9512|http://identifiers.org/snomedct/8211008	
MONDO:0004814	biolink:Disease	obsolete vascular skin disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004814		
MONDO:0004813	biolink:Disease	tuberculous pneumothorax	A pneumothorax in which air enters into the pleural cavity.	ICD9:011.7|ICD9:011.76|UMLS:C0152600|DOID:9534|ICD9:011.73|ICD9:011.72|SCTID:29731002|ICD9:011.70|ICD9:011.71	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004813	UMLS:C0152600|http://identifiers.org/snomedct/29731002|DOID:9534	
CHEBI:26605	biolink:ChemicalSubstance	saponin	A glycoside that is a compound containing one or more hydrophilic glycoside moieties combined with a lipophilic triterpenoid or steroid derivative. Found in particular abundance in plant species.		mondo.json	sapogenin glycosides|sapogenin glycoside|saponins	http://purl.obolibrary.org/obo/CHEBI_26605		
MONDO:0004810	biolink:Disease	acute ethmoiditis	Acute form of ethmoid sinusitis.	DOID:9506|ICD9:461.2|SCTID:67832005|UMLS:C0155806	mondo.json	ethmoidal sinus - acute|acute ethmoid sinusitis|acute ethmoidal sinusitis|ethmoid sinusitis, acute	http://purl.obolibrary.org/obo/MONDO_0004810	http://identifiers.org/snomedct/67832005|UMLS:C0155806|DOID:9506	
MONDO:0016801	biolink:Disease	mitochondrial substrate carrier disorder		Orphanet:254830|UMLS:CN227002	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016801	Orphanet:254830|UMLS:CN227002	disease_grouping|ordo_group_of_disorders
MONDO:0016802	biolink:Disease	mitochondrial protein import disorder		UMLS:CN227003|Orphanet:254834	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016802	Orphanet:254834|UMLS:CN227003	disease_grouping|ordo_group_of_disorders
UBERON:0001691	biolink:AnatomicalEntity	external ear			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001691		
MONDO:0016803	biolink:Disease	unspecified inborn mitochondrial disorder		UMLS:CN227004|Orphanet:254837	mondo.json	unspecified mitochondrial disorder	http://purl.obolibrary.org/obo/MONDO_0016803	Orphanet:254837|UMLS:CN227004	disease_grouping|ordo_group_of_disorders
MONDO:0016804	biolink:Disease	obsolete exercise intolerance with lactic acidosis		Orphanet:254843	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016804	Orphanet:254843	disease_grouping|ordo_group_of_disorders
UBERON:0001690	biolink:AnatomicalEntity	ear			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001690		
GO:0048729	biolink:NamedThing	tissue morphogenesis	The process in which the anatomical structures of a tissue are generated and organized.		mondo.json		http://purl.obolibrary.org/obo/GO_0048729		
GO:0061702	biolink:NamedThing	inflammasome complex	A cytosolic protein complex that is capable of activating caspase-1.		mondo.json		http://purl.obolibrary.org/obo/GO_0061702		
MONDO:0016800	biolink:Disease	mitochondrial membrane transport disorder		UMLS:CN227001|Orphanet:254827	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016800	Orphanet:254827|UMLS:CN227001	disease_grouping|ordo_group_of_disorders
MONDO:0004809	biolink:Disease	obsolete cannabis abuse			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004809		
UBERON:0001697	biolink:AnatomicalEntity	orbit of skull			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001697		
MONDO:0004808	biolink:Disease	benign mammary dysplasia		ICD9:610.9|SCTID:57993004|DOID:9504|ICD9:610.8	mondo.json	benign mammary dysplasia|benign dysplasia of breast	http://purl.obolibrary.org/obo/MONDO_0004808	DOID:9504|http://identifiers.org/snomedct/57993004	
MONDO:0004805	biolink:Disease	leukocyte disorder	A disease involving leukocytes.	UMLS:C0023510|ICD9:288.9|MESH:D007960|SCTID:54097007|DOID:9500|ICD9:288	mondo.json	leukocyte disorder|leukocyte disease|disease or disorder of leukocyte|disorder, leukocyte|white blood cell disorder|disease of leukocyte|disorders, leukocyte|leukocyte disease or disorder|disorder of leukocyte	http://purl.obolibrary.org/obo/MONDO_0004805	http://identifiers.org/snomedct/54097007|http://identifiers.org/mesh/D007960|UMLS:C0023510|DOID:9500	
CHEBI:26606	biolink:ChemicalSubstance	sapogenin	Any organic polycyclic compound that is the aglycon moiety of a saponin; sapogenins may be steroids or triterpenoids.		mondo.json	sapogenin|sapogenins	http://purl.obolibrary.org/obo/CHEBI_26606		
MONDO:0004804	biolink:Disease	dacryoadenitis	Inflammation and enlargement of the lacrimal gland.	MESH:D003607|UMLS:C0155223|ICD9:375.00|NCIT:C26971|SCTID:86927009|ICD9:375.0|DOID:950	mondo.json	inflammation of lacrimal gland|lacrimal gland inflammation	http://purl.obolibrary.org/obo/MONDO_0004804	NCIT:C26971|http://identifiers.org/snomedct/86927009|DOID:950|UMLS:C0155223	
CHEBI:26607	biolink:ChemicalSubstance	saturated fatty acid	Any fatty acid containing no carbon to carbon multiple bonds. Known to produce adverse biological effects when ingested to excess.		mondo.json	SFAs|saturated fatty acid|SFA|saturated fatty acids	http://purl.obolibrary.org/obo/CHEBI_26607		
MONDO:0004807	biolink:Disease	obsolete Loeffler syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004807		
MONDO:0004806	biolink:Disease	chronic eosinophilic pneumonia	Chronic inflammatory disorder of the lungs characterized by the presence of eosinophils in the interalveolar septa and alveolar spaces and peripheral blood eosinophilia. Chest x-rays reveal peripheral infiltrates. Approximately half of the patients have history of asthma or atopic disease. Signs and symptoms include fever, dyspnea, cough, and weight loss. Following treatment with corticosteroids, the eosinophilic infiltrates in the lungs disappear, resulting in dramatic clinical improvement.	SCTID:233692000|NCIT:C34471|DOID:9502	mondo.json	cryptogenic pulmonary eosinophilia|eosinophilic pneumonia, chronic	http://purl.obolibrary.org/obo/MONDO_0004806	http://identifiers.org/snomedct/233692000|NCIT:C34471|DOID:9502	
HP:0008496	biolink:PhenotypicFeature	Multiple rows of eyelashes		UMLS:C0423848|SNOMEDCT_US:95339000|UMLS:C3550336	mondo.json	Two rows of eyelashes|Extra rows of eyelashes|Multiple rows of eyelashes|Double row of eyelashes	http://purl.obolibrary.org/obo/HP_0008496		
UBERON:0001694	biolink:AnatomicalEntity	petrous part of temporal bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001694		
MONDO:0004823	biolink:Disease	obsolete dextrocardia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004823		
MONDO:0004822	biolink:Disease	bronchiectasis	Segmental, irreversible dilation of the bronchial tree resulting in the accumulation of secretions which leads to obstruction. The most common cause is bacterial infection.	ICD9:494|SCTID:12295008|ICD10CM:J47|UMLS:C0006267|DOID:9563|MESH:D001987|OMIMPS:211400|NCIT:C84475	mondo.json	Polynesian bronchiectasis	http://purl.obolibrary.org/obo/MONDO_0004822	http://identifiers.org/mesh/D001987|https://omim.org/phenotypicSeries/PS211400|UMLS:C0006267|http://purl.bioontology.org/ontology/ICD10CM/J47|http://identifiers.org/snomedct/12295008|NCIT:C84475|DOID:9563	
NCBITaxon:58023	biolink:OrganismalEntity	Tracheophyta		GC_ID:1	mondo.json	vascular plants|vascular plants	http://purl.obolibrary.org/obo/NCBITaxon_58023		
NCBITaxon:58024	biolink:OrganismalEntity	Spermatophyta		GC_ID:1	mondo.json	seed plants|seed plants	http://purl.obolibrary.org/obo/NCBITaxon_58024		
MONDO:0004825	biolink:Disease	obsolete encephalitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004825		
MONDO:0004824	biolink:Disease	neonatal candidiasis	A fungal infection by any of the Candida species in a newborn infant up to 28 days old.	NCIT:C116810|SCTID:414821002|ICD10CM:P37.5|UMLS:C0276682|DOID:9577|ICD9:771.7	mondo.json	neonatal Monilia infection|neonatal candida infection|neonatal Candida infection|neonatal moniliasis	http://purl.obolibrary.org/obo/MONDO_0004824	http://purl.bioontology.org/ontology/ICD10CM/P37.5|http://identifiers.org/snomedct/414821002|NCIT:C116810|UMLS:C0276682|DOID:9577	
UBERON:0001679	biolink:AnatomicalEntity	ethmoid bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001679		
UBERON:0001678	biolink:AnatomicalEntity	temporal bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001678		
MONDO:0004821	biolink:Disease	nasopharyngeal disorder	A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma.	NCIT:C35723|UMLS:C0027438|SCTID:123952009|MESH:D009302|DOID:9561	mondo.json	disorder of nasopharynx|nasopharyngeal disorder|nasopharynx disease|disease or disorder of nasopharynx|disease of nasopharynx|disorder of postnasal space|nasopharynx disease or disorder	http://purl.obolibrary.org/obo/MONDO_0004821	http://identifiers.org/mesh/D009302|NCIT:C35723|DOID:9561|http://identifiers.org/snomedct/123952009|UMLS:C0027438	
MONDO:0004820	biolink:Disease	peripheral nerve schwannoma	A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported.	DOID:956|UMLS:C1519001|NCIT:C41430	mondo.json	peripheral nerve schwannoma	http://purl.obolibrary.org/obo/MONDO_0004820	UMLS:C1519001|DOID:956|NCIT:C41430	
CL:1001517	biolink:Cell	stomach enteroendocrine cell	The various hormone- or neurotransmitter-secreting cells present throughout the mucosa of the stomach.		mondo.json		http://purl.obolibrary.org/obo/CL_1001517		
CL:1001516	biolink:Cell	intestinal enteroendocrine cell	The various hormone- or neurotransmitter-secreting cells present throughout the mucosa of the intestinal tract.		mondo.json		http://purl.obolibrary.org/obo/CL_1001516		
GO:0048732	biolink:NamedThing	gland development	The process whose specific outcome is the progression of a gland over time, from its formation to the mature structure. A gland is an organ specialised for secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_0048732		
GO:0048731	biolink:NamedThing	system development	The process whose specific outcome is the progression of an organismal system over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process.		mondo.json		http://purl.obolibrary.org/obo/GO_0048731		
UBERON:0011004	biolink:AnatomicalEntity	pharyngeal arch cartilage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011004		
HGNC:13806	biolink:NamedThing	NEUROG3			mondo.json		http://identifiers.org/hgnc/13806		
GO:0048738	biolink:NamedThing	cardiac muscle tissue development	The process whose specific outcome is the progression of cardiac muscle over time, from its formation to the mature structure.		mondo.json	heart muscle development	http://purl.obolibrary.org/obo/GO_0048738		
UBERON:0001686	biolink:AnatomicalEntity	auditory ossicle bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001686		
MONDO:0004819	biolink:Disease	indolent plasma cell myeloma		NCIT:C7150|DOID:9550|SCTID:441313008|UMLS:C2049069	mondo.json	indolent plasma cell myeloma|indolent multiple myeloma|indolent myeloma	http://purl.obolibrary.org/obo/MONDO_0004819	NCIT:C7150|UMLS:C2049069|http://identifiers.org/snomedct/441313008|DOID:9550	
UBERON:0001685	biolink:AnatomicalEntity	hyoid bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001685		
CL:0001082	biolink:Cell	immature innate lymphoid cell	An innate lyphoid cell with an immature phenotype.		mondo.json	immature ILC	http://purl.obolibrary.org/obo/CL_0001082		
MONDO:0004816	biolink:Disease	refractory plasma cell neoplasm	A plasma cell neoplasm that is resistant to treatment.	NCIT:C7813|UMLS:C0278620|DOID:9544	mondo.json	refractory plasma cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0004816	UMLS:C0278620|NCIT:C7813|DOID:9544	
MONDO:0004815	biolink:Disease	osteosclerotic plasma cell myeloma	A plasma cell neoplasm associated with osteosclerotic and fibrotic changes in the bone trabeculae. Often, the lymph nodes show changes resembling the plasma cell variant of Castleman disease. It is often part of POEMS syndrome which is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes.	NCIT:C7765|SCTID:425657001|DOID:9541	mondo.json	osteosclerotic myeloma|osteosclerotic multiple myeloma|osteosclerotic plasma cell myeloma	http://purl.obolibrary.org/obo/MONDO_0004815	http://identifiers.org/snomedct/425657001|NCIT:C7765|DOID:9541	
MONDO:0004818	biolink:Disease	obsolete benign neurilemmoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004818		
UBERON:0001684	biolink:AnatomicalEntity	mandible			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001684		
MONDO:0004817	biolink:Disease	non-secretory plasma cell myeloma	A rare type of multiple myeloma in which the plasma cells synthesize but do not secrete immunoglobulins. As a result, none of the immunoglobulins appear out of the normal range. The symptoms are generally the same with those of immunoglobulin-secreting myeloma; however, the incidence of renal insufficiency is lower in non-secretory myeloma. The diagnosis can be missed because of the absence of monoclonal immunoglobulin in the serum or urine.	NCIT:C4734|UMLS:C3898125|DOID:9547|SCTID:277580004|UMLS:C0456845	mondo.json	non-functioning myeloma|non-secretory myeloma|non-secretory multiple myeloma|non-secreting myeloma|non-secretory plasma cell myeloma	http://purl.obolibrary.org/obo/MONDO_0004817	NCIT:C4734|UMLS:C3898125|DOID:9547|UMLS:C0456845|http://identifiers.org/snomedct/277580004	
GO:0009135	biolink:NamedThing	purine nucleoside diphosphate metabolic process	The chemical reactions and pathways involving purine nucleoside diphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with diphosphate on the sugar.		mondo.json	purine nucleoside diphosphate metabolism	http://purl.obolibrary.org/obo/GO_0009135		
GO:0009132	biolink:NamedThing	nucleoside diphosphate metabolic process	The chemical reactions and pathways involving a nucleoside diphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with diphosphate on the sugar.		mondo.json	nucleoside diphosphate metabolism	http://purl.obolibrary.org/obo/GO_0009132		
GO:0009142	biolink:NamedThing	nucleoside triphosphate biosynthetic process	The chemical reactions and pathways resulting in the formation of a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar.		mondo.json	nucleoside triphosphate anabolism|nucleoside triphosphate biosynthesis|nucleoside triphosphate synthesis|nucleoside triphosphate formation	http://purl.obolibrary.org/obo/GO_0009142		
GO:0009141	biolink:NamedThing	nucleoside triphosphate metabolic process	The chemical reactions and pathways involving a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar.		mondo.json	nucleoside triphosphate metabolism	http://purl.obolibrary.org/obo/GO_0009141		
GO:1901293	biolink:NamedThing	nucleoside phosphate biosynthetic process	The chemical reactions and pathways resulting in the formation of a nucleoside phosphate.		mondo.json	nucleoside phosphate anabolism|nucleoside phosphate synthesis|nucleoside phosphate formation|nucleoside phosphate biosynthesis	http://purl.obolibrary.org/obo/GO_1901293		
GO:1901292	biolink:NamedThing	nucleoside phosphate catabolic process	The chemical reactions and pathways resulting in the breakdown of a nucleoside phosphate.		mondo.json	nucleoside phosphate degradation|nucleoside phosphate breakdown|nucleoside phosphate catabolism	http://purl.obolibrary.org/obo/GO_1901292		
GO:0071072	biolink:NamedThing	negative regulation of phospholipid biosynthetic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phospholipids.		mondo.json	down regulation of phospholipid biosynthetic process|inhibition of phospholipid biosynthetic process|negative regulation of phospholipid synthesis|downregulation of phospholipid biosynthetic process|negative regulation of phospholipid formation|down-regulation of phospholipid biosynthetic process|negative regulation of phospholipid biosynthesis|negative regulation of phospholipid anabolism	http://purl.obolibrary.org/obo/GO_0071072		
GO:0071073	biolink:NamedThing	positive regulation of phospholipid biosynthetic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phospholipids.		mondo.json	positive regulation of phospholipid anabolism|up-regulation of phospholipid biosynthetic process|positive regulation of phospholipid synthesis|up regulation of phospholipid biosynthetic process|positive regulation of phospholipid biosynthesis|activation of phospholipid biosynthetic process|positive regulation of phospholipid formation|stimulation of phospholipid biosynthetic process|upregulation of phospholipid biosynthetic process	http://purl.obolibrary.org/obo/GO_0071073		
GO:0071071	biolink:NamedThing	regulation of phospholipid biosynthetic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phospholipids.		mondo.json	regulation of phospholipid formation|regulation of phospholipid biosynthesis|regulation of phospholipid anabolism|regulation of phospholipid synthesis	http://purl.obolibrary.org/obo/GO_0071071		
CHEBI:36080	biolink:ChemicalSubstance	protein	A biological macromolecule minimally consisting of one polypeptide chain synthesized at the ribosome.		mondo.json	proteins	http://purl.obolibrary.org/obo/CHEBI_36080		
GO:0009145	biolink:NamedThing	purine nucleoside triphosphate biosynthetic process	The chemical reactions and pathways resulting in the formation of purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar.		mondo.json	purine nucleoside triphosphate anabolism|purine nucleoside triphosphate synthesis|purine nucleoside triphosphate biosynthesis|purine nucleoside triphosphate formation	http://purl.obolibrary.org/obo/GO_0009145		
GO:0009144	biolink:NamedThing	purine nucleoside triphosphate metabolic process	The chemical reactions and pathways involving purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar.		mondo.json	purine nucleoside triphosphate metabolism	http://purl.obolibrary.org/obo/GO_0009144		
GO:0009152	biolink:NamedThing	purine ribonucleotide biosynthetic process	The chemical reactions and pathways resulting in the formation of a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar.		mondo.json	purine ribonucleotide anabolism|purine ribonucleotide synthesis|purine ribonucleotide formation|purine ribonucleotide biosynthesis	http://purl.obolibrary.org/obo/GO_0009152		
GO:0009150	biolink:NamedThing	purine ribonucleotide metabolic process	The chemical reactions and pathways involving a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar.		mondo.json	purine ribonucleotide metabolism	http://purl.obolibrary.org/obo/GO_0009150		
CHEBI:36078	biolink:ChemicalSubstance	cholanoid			mondo.json	bile acids and derivatives|cholanoids	http://purl.obolibrary.org/obo/CHEBI_36078		
GO:0000781	biolink:NamedThing	chromosome, telomeric region	The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres).		mondo.json	nuclear chromosome, telomeric region|nuclear chromosome, telomere|telomere	http://purl.obolibrary.org/obo/GO_0000781		
GO:0097690	biolink:NamedThing	iron ion transmembrane transporter inhibitor activity	Binds to and stops, prevents, or reduces the activity of an iron ion transmembrane transporter.		mondo.json	iron channel inhibitor activity	http://purl.obolibrary.org/obo/GO_0097690		
GO:0000785	biolink:NamedThing	chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.		mondo.json	chromosome scaffold|cytoplasmic chromatin|nuclear chromatin	http://purl.obolibrary.org/obo/GO_0000785		
CHEBI:51689	biolink:ChemicalSubstance	enone	An alpha,beta-unsaturated ketone of general formula R(1)R(2)C=CR(3)-C(=O)R(4) (R(4) =/= H) in which the C=O function is conjugated to a C=C double bond at the alpha,beta position.		mondo.json	enones	http://purl.obolibrary.org/obo/CHEBI_51689		
GO:0000784	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0000784		
GO:0009117	biolink:NamedThing	nucleotide metabolic process	The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates).		mondo.json	nucleotide metabolism	http://purl.obolibrary.org/obo/GO_0009117		
GO:0009112	biolink:NamedThing	nucleobase metabolic process	The chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine.		mondo.json	nucleobase metabolism	http://purl.obolibrary.org/obo/GO_0009112		
GO:0009110	biolink:NamedThing	vitamin biosynthetic process	The chemical reactions and pathways resulting in the formation of a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body.		mondo.json	vitamin anabolism|vitamin biosynthesis|vitamin synthesis|vitamin formation	http://purl.obolibrary.org/obo/GO_0009110		
CHEBI:36047	biolink:ChemicalSubstance	antibacterial drug	A drug used to treat or prevent bacterial infections.		mondo.json	antibacterial drugs	http://purl.obolibrary.org/obo/CHEBI_36047		
GO:0000789	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0000789		
CHEBI:36043	biolink:ChemicalSubstance	antimicrobial drug	A drug used to treat or prevent microbial infections.		mondo.json	antimicrobial drugs	http://purl.obolibrary.org/obo/CHEBI_36043		
GO:0000792	biolink:NamedThing	heterochromatin	A compact and highly condensed form of chromatin that is refractory to transcription.		mondo.json	transcriptionally inactive chromatin|nuclear heterochromatin|transcriptionally silent chromatin	http://purl.obolibrary.org/obo/GO_0000792		
GO:0000791	biolink:NamedThing	euchromatin	A dispersed and relatively uncompacted form of chromatin that is in a transcription-competent conformation.		mondo.json	nuclear euchromatin|transcriptionally active chromatin	http://purl.obolibrary.org/obo/GO_0000791		
GO:0009127	biolink:NamedThing	purine nucleoside monophosphate biosynthetic process	The chemical reactions and pathways resulting in the formation of purine nucleoside monophosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with phosphate on the sugar.		mondo.json	purine nucleoside monophosphate anabolism|purine nucleoside monophosphate synthesis|purine nucleoside monophosphate formation|purine nucleoside monophosphate biosynthesis	http://purl.obolibrary.org/obo/GO_0009127		
GO:0009126	biolink:NamedThing	purine nucleoside monophosphate metabolic process	The chemical reactions and pathways involving purine nucleoside monophosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with phosphate on the sugar.		mondo.json	purine nucleoside monophosphate metabolism	http://purl.obolibrary.org/obo/GO_0009126		
GO:0009124	biolink:NamedThing	nucleoside monophosphate biosynthetic process	The chemical reactions and pathways resulting in the formation of a nucleoside monophosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with phosphate on the sugar.		mondo.json	nucleoside monophosphate synthesis|nucleoside monophosphate biosynthesis|nucleoside monophosphate formation|nucleoside monophosphate anabolism	http://purl.obolibrary.org/obo/GO_0009124		
GO:0000790	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0000790		
GO:0009123	biolink:NamedThing	nucleoside monophosphate metabolic process	The chemical reactions and pathways involving a nucleoside monophosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with phosphate on the sugar.		mondo.json	nucleoside monophosphate metabolism	http://purl.obolibrary.org/obo/GO_0009123		
CHEBI:36059	biolink:ChemicalSubstance	hydroxy monocarboxylic acid anion	Any monocarboxylic acid anion carrying at least one hydroxy substituent.		mondo.json	hydroxy monocarboxylic acid anions|hydroxymonocarboxylic acid anion|hydroxymonocarboxylic acid anions	http://purl.obolibrary.org/obo/CHEBI_36059		
MONDO:0026192	biolink:Disease	obsolete genetic glomerular disease		Orphanet:183586	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026192	Orphanet:183586	
MONDO:0026193	biolink:Disease	obsolete genetic thrombotic microangiopathy		Orphanet:183589	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026193	Orphanet:183589	
MONDO:0026190	biolink:Disease	obsolete genetic malformation syndrome with odontal and/or periodontal component		Orphanet:183580	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026190	Orphanet:183580	
CHEBI:36054	biolink:ChemicalSubstance	benzoate ester	Esters of benzoic acid or substituted benzoic acids.		mondo.json	benzoate esters|benzoic acid esters|benzoate ester	http://purl.obolibrary.org/obo/CHEBI_36054		
UBERON:0001628	biolink:AnatomicalEntity	posterior communicating artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001628		
UBERON:0001629	biolink:AnatomicalEntity	carotid body			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001629		
UBERON:0001630	biolink:AnatomicalEntity	muscle organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001630		
UBERON:0001633	biolink:AnatomicalEntity	basilar artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001633		
UBERON:0001632	biolink:AnatomicalEntity	temporal artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001632		
UBERON:0001616	biolink:AnatomicalEntity	maxillary artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001616		
UBERON:0001619	biolink:AnatomicalEntity	ophthalmic artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001619		
UBERON:0001613	biolink:AnatomicalEntity	occipital artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001613		
UBERON:0001612	biolink:AnatomicalEntity	facial artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001612		
GO:0009108	biolink:NamedThing	obsolete coenzyme biosynthetic process	OBSOLETE. The chemical reactions and pathways resulting in the formation of coenzymes, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed.		mondo.json	coenzyme anabolism|coenzyme and prosthetic group biosynthetic process|coenzyme and prosthetic group biosynthesis|coenzyme biosynthesis|coenzyme synthesis|coenzyme formation	http://purl.obolibrary.org/obo/GO_0009108		
GO:0009107	biolink:NamedThing	lipoate biosynthetic process	The chemical reactions and pathways resulting in the formation of lipoate, 1,2-dithiolane-3-pentanoate, the anion derived from lipoic acid.		mondo.json	lipoate biosynthesis|lipoic acid biosynthetic process|lipoic acid biosynthesis|lipoic acid anabolism|lipoate anabolism|lipoic acid synthesis|lipoate synthesis|lipoic acid formation|lipoate formation	http://purl.obolibrary.org/obo/GO_0009107		
GO:0009106	biolink:NamedThing	lipoate metabolic process	The chemical reactions and pathways involving lipoate, 1,2-dithiolane-3-pentanoate, the anion derived from lipoic acid.		mondo.json	lipoate metabolism|lipoic acid metabolism|lipoic acid metabolic process	http://purl.obolibrary.org/obo/GO_0009106		
CHEBI:48001	biolink:ChemicalSubstance	protein synthesis inhibitor	A compound, usually an anti-bacterial agent or a toxin, which inhibits the synthesis of a protein.		mondo.json	protein synthesis inhibitors|protein synthesis antagonists|protein synthesis antagonist	http://purl.obolibrary.org/obo/CHEBI_48001		
GO:0009101	biolink:NamedThing	glycoprotein biosynthetic process	The chemical reactions and pathways resulting in the formation of glycoproteins, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide.		mondo.json	glycoprotein anabolism|glycoprotein biosynthesis|glycoprotein synthesis|glycoprotein formation	http://purl.obolibrary.org/obo/GO_0009101		
GO:0009100	biolink:NamedThing	glycoprotein metabolic process	The chemical reactions and pathways involving glycoproteins, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide.		mondo.json	glycoprotein metabolism	http://purl.obolibrary.org/obo/GO_0009100		
UBERON:0001620	biolink:AnatomicalEntity	central retinal artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001620		
UBERON:0001622	biolink:AnatomicalEntity	lacrimal artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001622		
UBERON:0001621	biolink:AnatomicalEntity	coronary artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001621		
UBERON:0001606	biolink:AnatomicalEntity	muscle of iris			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001606		
UBERON:0001605	biolink:AnatomicalEntity	ciliary muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001605		
UBERON:0001608	biolink:AnatomicalEntity	dilatator pupillae			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001608		
UBERON:0001607	biolink:AnatomicalEntity	sphincter pupillae			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001607		
UBERON:0001601	biolink:AnatomicalEntity	extra-ocular muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001601		
UBERON:0001604	biolink:AnatomicalEntity	levator palpebrae superioris			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001604		
UBERON:0001611	biolink:AnatomicalEntity	sublingual artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001611		
UBERON:0001610	biolink:AnatomicalEntity	lingual artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001610		
CARO:0010000	biolink:NamedThing	multicellular anatomical structure			mondo.json		http://purl.obolibrary.org/obo/CARO_0010000		
MONDO:0002299	biolink:Disease	glomangioma	A morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions.	UMLS:C0334421|NCIT:C4222|DOID:2436|ICDO:8712/0	mondo.json	glomangioma	http://purl.obolibrary.org/obo/MONDO_0002299	DOID:2436|NCIT:C4222|UMLS:C0334421	
MONDO:0014280	biolink:Disease	immunodeficiency 19	Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene.	UMLS:C3810147|OMIM:615617|DOID:0060016	mondo.json	CD3D severe combined immunodeficiency (disease)|SCID, T cell-negative, B cell-positive, NK cell-positive|immunodeficiency 19|CD3delta deficiency|CD3D|IMD19|severe combined immunodeficiency (disease) caused by mutation in CD3D|immunodeficiency type 19|CD3-Delta deficiency|severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive	http://purl.obolibrary.org/obo/MONDO_0014280	UMLS:C3810147|DOID:0060016|https://omim.org/entry/615617	
MONDO:0002295	biolink:Disease	skin glomus tumor	A glomus tumor arising from the skin. It usually presents as a small red-blue nodule and it often associated with pain at the site.	DOID:2430|UMLS:C0346083|SCTID:254795008|NCIT:C4491	mondo.json	glomus neoplasm of skin|glomus neoplasm of the skin|glomus skin tumor|glomus skin neoplasm|glomus tumor of skin|glomus tumor of the skin|skin glomus neoplasm|zone of skin glomus tumor	http://purl.obolibrary.org/obo/MONDO_0002295	http://identifiers.org/snomedct/254795008|DOID:2430|NCIT:C4491|UMLS:C0346083	
MONDO:0002296	biolink:Disease	obsolete glomus tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002296		
MONDO:0002297	biolink:Disease	epidermal appendage tumor	A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.	SCTID:126489007|ICD9:239.2|NCIT:C4463|UMLS:C0345988|DOID:2433	mondo.json	neoplasm of skin appendage|tumor of Epidermal appendage|neoplasm of cutaneous appendage|skin appendage tumor|cutaneous appendage tumor|neoplasm of the skin appendage|cutaneous appendage neoplasm|adnexal tumor of skin|skin appendage tumour|Epidermal appendage neoplasm|adnexal tumor of the skin|neoplasm of Epidermal appendage|tumor of cutaneous appendage|tumor of skin appendage|tumor of the skin appendage|Epidermal appendage tumor|cutaneous appendage neoplasm (disease)|cutaneous adnexal neoplasm|neoplasm of skin with adnexal differentiation|skin appendage neoplasm|adnexal neoplasm of skin|adnexal neoplasm of the skin	http://purl.obolibrary.org/obo/MONDO_0002297	DOID:2433|NCIT:C4463|UMLS:C0345988|http://identifiers.org/snomedct/126489007	
MONDO:0002298	biolink:Disease	cutaneous glomangioma	A glomus tumor arising from the skin. It is characterized by the presence of dilated veins surrounded by glomus cells.	SCTID:403970001|NCIT:C6750|DOID:2435|UMLS:C1275226	mondo.json	skin glomangioma|zone of skin glomangioma|cutaneous glomangioma|glomangioma of skin|glomangioma of the skin	http://purl.obolibrary.org/obo/MONDO_0002298	UMLS:C1275226|DOID:2435|NCIT:C6750|http://identifiers.org/snomedct/403970001	
MONDO:0002291	biolink:Disease	cutaneous granular cell tumor	A granular cell tumor that involves the zone of skin.	SCTID:254763007|UMLS:C0346060|DOID:2410|NCIT:C5617|ICD9:215.9	mondo.json	granular cell neoplasm of the skin|cutaneous granular cell tumor|skin granular cell neoplasm|granular cell tumor of skin|granular cell tumor of the skin|zone of skin granular cell tumor|skin granular cell tumor|cutaneous granular cell neoplasm|granular cell neoplasm of skin|granular cell skin tumor|granular cell tumor of zone of skin	http://purl.obolibrary.org/obo/MONDO_0002291	NCIT:C5617|UMLS:C0346060|http://identifiers.org/snomedct/254763007|DOID:2410	
GO:1903862	biolink:NamedThing	positive regulation of oxidative phosphorylation	Any process that activates or increases the frequency, rate or extent of oxidative phosphorylation.		mondo.json	up-regulation of respiratory-chain phosphorylation|up regulation of oxidative phosphorylation|activation of oxidative phosphorylation|up regulation of respiratory-chain phosphorylation|positive regulation of respiratory-chain phosphorylation|activation of respiratory-chain phosphorylation|upregulation of oxidative phosphorylation|upregulation of respiratory-chain phosphorylation|up-regulation of oxidative phosphorylation	http://purl.obolibrary.org/obo/GO_1903862		
MONDO:0002292	biolink:Disease	obsolete granular cell tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002292		
MONDO:0002293	biolink:Disease	cutaneous ganglioneuroma	A ganglioneuroma arising from the skin.	SCTID:254766004|UMLS:C0346063|DOID:2425|NCIT:C4481	mondo.json	cutaneous ganglioneuroma|ganglioneuroma of skin|ganglioneuroma of the skin|skin ganglioneuroma	http://purl.obolibrary.org/obo/MONDO_0002293	http://identifiers.org/snomedct/254766004|DOID:2425|NCIT:C4481|UMLS:C0346063	
MONDO:0002294	biolink:Disease	obsolete gangliocytoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002294		
MONDO:0002290	biolink:Disease	clitoris cancer	A malignant neoplasm that affects the clitoris.	ICD9:184.3|SCTID:371979001|DOID:2401|NCIT:C3557|UMLS:C0153589	mondo.json	clitoral Ca|malignant neoplasm of clitoris|malignant clitoral neoplasm|malignant clitoral tumor|malignant neoplasm of the clitoris|malignant clitoris tumor|clitoris cancer|cancer of clitoris|carcinoma of clitoris|malignant tumor of clitoris|malignant tumor of the clitoris|malignant clitoris neoplasm	http://purl.obolibrary.org/obo/MONDO_0002290	UMLS:C0153589|NCIT:C3557|http://identifiers.org/snomedct/371979001|DOID:2401	
MONDO:0014289	biolink:Disease	macrocephaly-developmental delay syndrome	Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally.	Orphanet:397612|UMLS:C3810225|OMIM:615637	mondo.json	intellectual disability, autosomal recessive 41|mental retardation, autosomal recessive type 41|mental retardation, autosomal recessive 41|MRT41|intellectual disability, autosomal recessive type 41	http://purl.obolibrary.org/obo/MONDO_0014289	https://omim.org/entry/615637|Orphanet:397612|UMLS:C3810225	ordo_malformation_syndrome
MONDO:0014284	biolink:Disease	short-rib thoracic dysplasia 10 with or without polydactyly	An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.	UMLS:C3810175|OMIM:615630|DOID:0110091	mondo.json	SRTD10|short-rib thoracic dysplasia 10 with or without polydactyly	http://purl.obolibrary.org/obo/MONDO_0014284	https://omim.org/entry/615630|UMLS:C3810175|DOID:0110091	
MONDO:0014283	biolink:Disease	autosomal dominant nonsyndromic hearing loss 56	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TNC gene.	UMLS:C3810170|DOID:0110581|OMIM:615629	mondo.json	deafness, autosomal dominant type 56|TNC autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness type 56|autosomal dominant nonsyndromic deafness caused by mutation in TNC|autosomal dominant deafness 56|deafness, autosomal dominant 56|autosomal dominant nonsyndromic deafness 56|DFNA56	http://purl.obolibrary.org/obo/MONDO_0014283	https://omim.org/entry/615629|UMLS:C3810170|DOID:0110581	
MONDO:0014282	biolink:Disease	hereditary spastic paraplegia 72	Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene.	Orphanet:401849|OMIM:615625|DOID:0110817|UMLS:C3810160	mondo.json	hereditary spastic paraplegia type 72|autosomal spastic paraplegia type 72|pure hereditary spastic paraplegia caused by mutation in REEP2|SPG72|spastic paraplegia 72, autosomal dominant|REEP2 pure hereditary spastic paraplegia|spastic paraplegia 72, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0014282	DOID:0110817|https://omim.org/entry/615625|UMLS:C3810160|Orphanet:401849	ordo_inheritance_inconsistent|ordo_disease
MONDO:0014281	biolink:Disease	cholangiocarcinoma, susceptibility to		OMIM:615619	mondo.json	Chlc, susceptibility to|cholangiocarcinoma, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0014281	https://omim.org/entry/615619	predisposition
MONDO:0014288	biolink:Disease	Joubert syndrome 21	Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene.	OMIM:615636|UMLS:C3810212|DOID:0110990	mondo.json	Joubert syndrome 21|CSPP1 Joubert syndrome|JBTS21|Joubert syndrome caused by mutation in CSPP1|Joubert syndrome type 21	http://purl.obolibrary.org/obo/MONDO_0014288	https://omim.org/entry/615636|DOID:0110990|UMLS:C3810212	
MONDO:0014287	biolink:Disease	short-rib thoracic dysplasia 11 with or without polydactyly	An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34.	UMLS:C3810200|OMIM:615633|DOID:0110095	mondo.json	short-rib thoracic dysplasia 11 with or without polydactyly|SRTD11	http://purl.obolibrary.org/obo/MONDO_0014287	https://omim.org/entry/615633|UMLS:C3810200|DOID:0110095	
MONDO:0014286	biolink:Disease	neuropathy, hereditary sensory, type 1F	Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene.	DOID:0070154|UMLS:C3810194|OMIM:615632	mondo.json	HSN 1F|HSN1F|hereditary sensory and autonomic neuropathy type 1 caused by mutation in ATL3|ATL3 hereditary sensory and autonomic neuropathy type 1|hereditary sensory neuropathy type 1F|hereditary sensory neuropathy type IF|neuropathy, hereditary sensory, type 1F|neuropathy, hereditary sensory, type IF	http://purl.obolibrary.org/obo/MONDO_0014286	https://omim.org/entry/615632|UMLS:C3810194|DOID:0070154	
MONDO:0014285	biolink:Disease	congenital dyserythropoietic anemia type type 1B		OMIM:615631|UMLS:C3810185|DOID:0111397	mondo.json	congenital dyserythropoietic anemia type type 1B|anemia, congenital dyserythropoietic, type IB|CDA, type IB|dyserythropoietic anemia, congenital, type IB|CDAN1B	http://purl.obolibrary.org/obo/MONDO_0014285	https://omim.org/entry/615631|UMLS:C3810185|DOID:0111397	
NCBITaxon:12721	biolink:OrganismalEntity	Human immunodeficiency virus		GC_ID:1	mondo.json	AIDS virus|HIV	http://purl.obolibrary.org/obo/NCBITaxon_12721		
GO:1901213	biolink:NamedThing	obsolete regulation of transcription from RNA polymerase II promoter involved in heart development	OBSOLETE. Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter that contributes to the development of the heart over time.		mondo.json	regulation of transcription from RNA polymerase II promoter involved in cardiac development|regulation of global transcription from Pol II promoter involved in dorsal vessel development|regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|regulation of gene-specific transcription from RNA polymerase II promoter involved in dorsal vessel development|global transcription regulation from Pol II promoter involved in cardiac development|regulation of transcription from RNA polymerase II promoter, global involved in dorsal vessel development|regulation of gene-specific transcription from RNA polymerase II promoter involved in cardiac development|regulation of global transcription from Pol II promoter involved in cardiac development|global transcription regulation from Pol II promoter involved in heart development|regulation of transcription from RNA polymerase II promoter, global involved in cardiac development|regulation of gene-specific transcription from RNA polymerase II promoter involved in heart development|regulation of global transcription from Pol II promoter involved in heart development|regulation of transcription from Pol II promoter involved in heart development|regulation of transcription from Pol II promoter involved in cardiac development|regulation of transcription from RNA polymerase II promoter, global involved in heart development|global transcription regulation from Pol II promoter involved in dorsal vessel development|regulation of transcription from Pol II promoter involved in dorsal vessel development	http://purl.obolibrary.org/obo/GO_1901213		
MONDO:0014279	biolink:Disease	obsolete arrhythmogenic right ventricular dysplasia, familial, 13			mondo.json		http://purl.obolibrary.org/obo/MONDO_0014279		
MONDO:0014278	biolink:Disease	immunodeficiency 18	Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18.	UMLS:C3810127|OMIM:615615|DOID:0060017	mondo.json	immunodeficiency 18, SCID variant|immunodeficiency 18, Severe combined immunodeficiency variant|IMD18|immunodeficiency 18|CD3-Epsilon deficiency|immunodeficiency type 18	http://purl.obolibrary.org/obo/MONDO_0014278	DOID:0060017|https://omim.org/entry/615615|UMLS:C3810127	
MONDO:0014273	biolink:Disease	microcephaly-thin corpus callosum-intellectual disability syndrome	Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.	Orphanet:397951|OMIM:615599|UMLS:C3810080	mondo.json	microcephaly-thin corpus callosum-intellectual disability syndrome|intellectual disability, autosomal recessive type 40|intellectual developmental disorder, autosomal recessive 40|mental retardation, autosomal recessive type 40|mental retardation, autosomal recessive 40|MRT40|intellectual disability, autosomal recessive 40	http://purl.obolibrary.org/obo/MONDO_0014273	https://omim.org/entry/615599|Orphanet:397951|UMLS:C3810080	ordo_disease
MONDO:0014272	biolink:Disease	palmoplantar keratoderma, Nagashima type	Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.	OMIM:615598|SCTID:722205008|Orphanet:140966|UMLS:C3810072	mondo.json	palmoplantar keratoderma, Nagashima type|PPKN|palmoplantar hyperkeratosis, Nagashima type|PPK, Nagashima type	http://purl.obolibrary.org/obo/MONDO_0014272	https://omim.org/entry/615598|UMLS:C3810072|http://identifiers.org/snomedct/722205008|Orphanet:140966	ordo_disease
MONDO:0038261	biolink:Disease	obsolete genetic neurological channelopathy of the central nervous system		Orphanet:98743	mondo.json		http://purl.obolibrary.org/obo/MONDO_0038261	Orphanet:98743	
MONDO:0014271	biolink:Disease	STT3B-congenital disorder of glycosylation	STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).	OMIM:615597|MESH:C535751|SCTID:733112007|Orphanet:370924|UMLS:C2931007|DOID:0080573	mondo.json	CDG1X|congenital disorder of glycosylation type 1x|STT3B-CDG|CDG IX|STT3B-congenital disorder of glycosylation|CDG-Ix|carbohydrate deficient glycoprotein syndrome type IX|CDG syndrome type IX|congenital disorder of glycosylation type IX|congenital disorder of glycosylation, type IX	http://purl.obolibrary.org/obo/MONDO_0014271	http://identifiers.org/mesh/C535751|UMLS:C2931007|https://omim.org/entry/615597|Orphanet:370924|DOID:0080573|http://identifiers.org/snomedct/733112007	ordo_disease
MONDO:0014270	biolink:Disease	STT3A-congenital disorder of glycosylation	STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).	OMIM:615596|Orphanet:370921|UMLS:C3810062|SCTID:733111000|DOID:0080572	mondo.json	congenital disorder of glycosylation type 1w|CDG1W|CDG-Iw|STT3A-congenital disorder of glycosylation|CDG Iw|STT3A-CDG|CDG syndrome type Iw|congenital disorder of glycosylation type Iw|congenital disorder of glycosylation, type Iw, autosomal recessive|congenital disorder of glycosylation, type Iw	http://purl.obolibrary.org/obo/MONDO_0014270	https://omim.org/entry/615596|http://identifiers.org/snomedct/733111000|UMLS:C3810062|Orphanet:370921|DOID:0080572	ordo_disease
MONDO:0014277	biolink:Disease	developmental dysplasia of the hip 2		OMIM:615612|UMLS:C3715079	mondo.json	developmental dysplasia of the hip 2|DDH2	http://purl.obolibrary.org/obo/MONDO_0014277	https://omim.org/entry/615612|UMLS:C3715079	
MONDO:0014276	biolink:Disease	combined immunodeficiency due to CD3gamma deficiency	Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.	SCTID:725135004|Orphanet:169082|UMLS:C3810107|UMLS:C4510864|GARD:0009521|OMIM:615607|DOID:0060018	mondo.json	immunodeficiency type 17|CD3 deficiency|SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive|combined immunodeficiency due to CD3gamma deficiency|immunodeficiency 17, CD3 gamma deficient|IMD17|CD3-gamma deficiency|CD3gamma deficiency|immunodeficiency 17	http://purl.obolibrary.org/obo/MONDO_0014276	DOID:0060018|Orphanet:169082|https://omim.org/entry/615607|http://identifiers.org/snomedct/725135004|UMLS:C3810107|UMLS:C4510864	gard_rare|ordo_disease
MONDO:0014275	biolink:Disease	Fanconi renotubular syndrome 3	Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.	UMLS:C3810100|OMIM:615605	mondo.json	Fanconi renotubular syndrome 3|Fanconi renotubular syndrome type 3|EHHADH Fanconi syndrome|FRTS3|Fanconi syndrome caused by mutation in EHHADH	http://purl.obolibrary.org/obo/MONDO_0014275	https://omim.org/entry/615605|UMLS:C3810100	
MONDO:0038268	biolink:Disease	autoimmune neurological channelopathy		Orphanet:98750	mondo.json		http://purl.obolibrary.org/obo/MONDO_0038268	Orphanet:98750	ordo_group_of_disorders
MONDO:0014274	biolink:Disease	L-ferritin deficiency		UMLS:C3810090|Orphanet:440731|OMIM:615604	mondo.json	L-ferritin deficiency|L-ferritin deficiency, dominant and recessive|LFTD	http://purl.obolibrary.org/obo/MONDO_0014274	https://omim.org/entry/615604|UMLS:C3810090|Orphanet:440731	ordo_biological_anomaly
MONDO:0002277	biolink:Disease	arteriosclerosis disorder	A vascular disorder characterized by thickening and hardening of the walls of the arteries.	SCTID:72092001|NCIT:C34403|ICD9:440|HP:0002634|NCIT:C34398|CSP:0571-2299|UMLS:C0003850|MESH:D001161|DOID:2349|DOID:2348|EFO:0009086|UMLS:C3665365	mondo.json	arteriosclerotic cardiovascular disease|cardiovascular arteriosclerosis|arteriosclerotic vascular disease|arteriosclerosis|arterial sclerosis|vascular sclerosis	http://purl.obolibrary.org/obo/MONDO_0002277	NCIT:C34403|NCIT:C34398|DOID:2349|DOID:2348|http://identifiers.org/snomedct/72092001|UMLS:C0003850|UMLS:C3665365|http://identifiers.org/mesh/D001161	
MONDO:0002278	biolink:Disease	benign colon neoplasm	A non-metastasizing neoplasm arising from the wall of the colon.	ICD9:211.3|DOID:235|UMLS:C0004991|NCIT:C2894|SCTID:92065004	mondo.json	benign colonic neoplasm|colon neoplasm|benign neoplasm of the colon|benign neoplasm of colon|benign tumor of the colon|benign colon neoplasm|benign colon tumor|benign tumor of colon|colonic tumor|colonic benign neoplasm|colonic Mass|colon benign neoplasm|benign colonic tumor	http://purl.obolibrary.org/obo/MONDO_0002278	NCIT:C2894|DOID:235|UMLS:C0004991|http://identifiers.org/snomedct/92065004	
GO:1901228	biolink:NamedThing	obsolete positive regulation of transcription from RNA polymerase II promoter involved in heart development	OBSOLETE. Any positive regulation of transcription from RNA polymerase II promoter that is involved in heart development.		mondo.json	stimulation of transcription from RNA polymerase II promoter involved in heart development|stimulation of transcription from RNA polymerase II promoter involved in cardiac development|stimulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|activation of global transcription from RNA polymerase II promoter involved in heart development|upregulation of global transcription from RNA polymerase II promoter involved in heart development|up-regulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|up regulation of global transcription from RNA polymerase II promoter involved in cardiac development|stimulation of global transcription from RNA polymerase II promoter involved in heart development|up-regulation of transcription from RNA polymerase II promoter involved in cardiac development|positive regulation of global transcription from Pol II promoter involved in heart development|up-regulation of transcription from RNA polymerase II promoter involved in heart development|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in heart development|up-regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|up regulation of transcription from RNA polymerase II promoter involved in cardiac development|up-regulation of global transcription from RNA polymerase II promoter involved in cardiac development|up regulation of transcription from RNA polymerase II promoter involved in heart development|up regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|positive regulation of transcription from Pol II promoter involved in heart development|positive regulation of transcription from Pol II promoter involved in cardiac development|activation of transcription from RNA polymerase II promoter involved in heart development|activation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|positive regulation of transcription from Pol II promoter involved in dorsal vessel development|positive regulation of transcription from RNA polymerase II promoter involved in cardiac development|up regulation of global transcription from RNA polymerase II promoter involved in heart development|upregulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|stimulation of global transcription from RNA polymerase II promoter involved in cardiac development|positive regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|positive regulation of global transcription from Pol II promoter involved in dorsal vessel development|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in dorsal vessel development|stimulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|up-regulation of global transcription from RNA polymerase II promoter involved in heart development|upregulation of transcription from RNA polymerase II promoter involved in cardiac development|upregulation of transcription from RNA polymerase II promoter involved in heart development|activation of global transcription from RNA polymerase II promoter involved in cardiac development|upregulation of global transcription from RNA polymerase II promoter involved in cardiac development|activation of transcription from RNA polymerase II promoter involved in cardiac development|upregulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|activation of transcription from RNA polymerase II promoter involved in dorsal vessel development|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in cardiac development|positive regulation of global transcription from Pol II promoter involved in cardiac development|up regulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development	http://purl.obolibrary.org/obo/GO_1901228		
MONDO:0002279	biolink:Disease	iron metabolism disease	Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization.	ICD9:275.0|SCTID:30913008|UMLS:C0012715|MESH:D019189|DOID:2351|ICD10CM:E83.1	mondo.json	metabolism disorder, iron|iron metabolism disorder|disorder, iron metabolism|iron disorder|disorders, iron metabolism|metabolism disorders, iron|disorder of iron metabolism	http://purl.obolibrary.org/obo/MONDO_0002279	http://identifiers.org/mesh/D019189|UMLS:C0012715|DOID:2351|http://identifiers.org/snomedct/30913008|http://purl.bioontology.org/ontology/ICD10CM/E83.1	
MONDO:0002273	biolink:Disease	plasma protein metabolism disease	An inherited metabolic disorder that involves plasma protein metabolism malfunction.	DOID:2345|ICD9:273.8	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002273	DOID:2345	
GO:1901227	biolink:NamedThing	obsolete negative regulation of transcription from RNA polymerase II promoter involved in heart development	OBSOLETE. Any negative regulation of transcription from RNA polymerase II promoter that is involved in heart development.		mondo.json	down regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|inhibition of global transcription from RNA polymerase II promoter involved in cardiac development|negative regulation of global transcription from Pol II promoter involved in cardiac development|down-regulation of global transcription from RNA polymerase II promoter involved in heart development|downregulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|negative regulation of gene-specific transcription from RNA polymerase II promoter involved in cardiac development|negative regulation of transcription from Pol II promoter involved in heart development|negative regulation of transcription from Pol II promoter involved in cardiac development|downregulation of transcription from RNA polymerase II promoter involved in cardiac development|inhibition of transcription from RNA polymerase II promoter involved in heart development|downregulation of transcription from RNA polymerase II promoter involved in heart development|negative regulation of transcription from Pol II promoter involved in dorsal vessel development|downregulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|down regulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|inhibition of global transcription from RNA polymerase II promoter involved in heart development|downregulation of global transcription from RNA polymerase II promoter involved in cardiac development|negative regulation of gene-specific transcription from RNA polymerase II promoter involved in heart development|negative regulation of global transcription from Pol II promoter involved in heart development|inhibition of transcription from RNA polymerase II promoter involved in cardiac development|down-regulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|inhibition of transcription from RNA polymerase II promoter involved in dorsal vessel development|down regulation of global transcription from RNA polymerase II promoter involved in cardiac development|downregulation of global transcription from RNA polymerase II promoter involved in heart development|down-regulation of transcription from RNA polymerase II promoter involved in heart development|negative regulation of transcription from RNA polymerase II promoter involved in cardiac development|down-regulation of transcription from RNA polymerase II promoter involved in cardiac development|inhibition of global transcription from RNA polymerase II promoter involved in dorsal vessel development|down-regulation of global transcription from RNA polymerase II promoter involved in cardiac development|negative regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|down-regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|negative regulation of gene-specific transcription from RNA polymerase II promoter involved in dorsal vessel development|negative regulation of global transcription from Pol II promoter involved in dorsal vessel development|down regulation of transcription from RNA polymerase II promoter involved in cardiac development|down regulation of transcription from RNA polymerase II promoter involved in heart development|down regulation of global transcription from RNA polymerase II promoter involved in heart development	http://purl.obolibrary.org/obo/GO_1901227		
MONDO:0002274	biolink:Disease	monoclonal paraproteinemia disease	A disease characterized by the presence of excessive amounts of paraprotein or single monoclonal gammaglobulin in the blood. It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, especially multiple myeloma.	HP:0031047|SCTID:267440005|ICD9:273.1|NCIT:C35878|UMLS:C0026471|DOID:2346	mondo.json	paraproteinaemia|monoclonal paraproteinemia|monoclonal paraproteinaemia	http://purl.obolibrary.org/obo/MONDO_0002274	NCIT:C35878|DOID:2346|http://identifiers.org/snomedct/267440005|UMLS:C0026471	
MONDO:0002275	biolink:Disease	generalized atherosclerosis	Atherosclerosis that is not localized.	SCTID:39823006|NCIT:C35767|ICD10CM:I70.91|UMLS:C0017327|ICD9:440.9|DOID:2347	mondo.json	generalized and unspecified atherosclerosis|generalised atherosclerosis	http://purl.obolibrary.org/obo/MONDO_0002275	NCIT:C35767|DOID:2347|UMLS:C0017327|http://purl.bioontology.org/ontology/ICD10CM/I70.91|http://identifiers.org/snomedct/39823006	
MONDO:0002276	biolink:Disease	obsolete arteriosclerotic cardiovascular disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002276		
MONDO:0002270	biolink:Disease	viral gastritis	Inflammation of the stomach resulting from viral infection.	ICD9:008.8|SCTID:285344007|UMLS:C0563238|DOID:2327|NCIT:C27184	mondo.json	Viruses gastritis (disease)|viral gastritis|Viruses caused gastritis (disease)	http://purl.obolibrary.org/obo/MONDO_0002270	NCIT:C27184|http://identifiers.org/snomedct/285344007|DOID:2327|UMLS:C0563238	
MONDO:0002271	biolink:Disease	colon adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the colon	EFO:1001949|UMLS:C0338106|ONCOTREE:COAD|DOID:234|NCIT:C4349	mondo.json	adenocarcinoma - colon|colon adenocarcinoma|adenocarcinoma of the colon|adenocarcinoma of colon|COAD|colonic adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002271	NCIT:C4349|DOID:234|UMLS:C0338106	
MONDO:0002272	biolink:Disease	polyclonal hypergammaglobulinemia	A laboratory test result indicating abnormally high proliferation of gamma globulins in the blood originating from multiple cell lines.	NCIT:C35885|DOID:2344|ICD10CM:D89.0|ICD9:273.0|UMLS:C0154254|SCTID:190808009	mondo.json	polyclonal hypergammaglobulinemia	http://purl.obolibrary.org/obo/MONDO_0002272	DOID:2344|UMLS:C0154254|http://purl.bioontology.org/ontology/ICD10CM/D89.0|http://identifiers.org/snomedct/190808009|NCIT:C35885	
GO:0009087	biolink:NamedThing	methionine catabolic process	The chemical reactions and pathways resulting in the breakdown of methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins.		mondo.json	methionine catabolism|methionine degradation|methionine breakdown	http://purl.obolibrary.org/obo/GO_0009087		
MONDO:0014269	biolink:Disease	combined oxidative phosphorylation deficiency 19	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene.	UMLS:C3810055|OMIM:615595|DOID:0111476	mondo.json	LYRM4 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 19|combined oxidative phosphorylation deficiency type 19|combined oxidative phosphorylation deficiency caused by mutation in LYRM4|COXPD19	http://purl.obolibrary.org/obo/MONDO_0014269	DOID:0111476|https://omim.org/entry/615595|UMLS:C3810055	
MONDO:0014268	biolink:Disease	combined immunodeficiency due to OX40 deficiency	Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.	SCTID:766879006|UMLS:C3810053|OMIM:615593|Orphanet:431149	mondo.json	immunodeficiency type 16|immunodeficiency 16|combined immunodeficiency with childhood-onset Kaposi sarcoma|combined immunodeficiency with impaired immunity to human herpes virus 8|OX40 deficiency|IMD16|combined immunodeficiency with impaired immunity to HHV-8	http://purl.obolibrary.org/obo/MONDO_0014268	http://identifiers.org/snomedct/766879006|https://omim.org/entry/615593|Orphanet:431149|UMLS:C3810053	ordo_disease
MONDO:0014267	biolink:Disease	severe combined immunodeficiency due to IKK2 deficiency	Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.	UMLS:C3810043|OMIM:615592|Orphanet:397787	mondo.json	IMD15|immunodeficiency type 15|immunodeficiency 15|immunodeficiency 15B|SCID due to IKK2 deficiency	http://purl.obolibrary.org/obo/MONDO_0014267	https://omim.org/entry/615592|Orphanet:397787	ordo_disease
GO:0009081	biolink:NamedThing	branched-chain amino acid metabolic process	The chemical reactions and pathways involving amino acids containing a branched carbon skeleton, comprising isoleucine, leucine and valine.		mondo.json	branched chain family amino acid metabolism	http://purl.obolibrary.org/obo/GO_0009081		
MONDO:0014262	biolink:Disease	Rienhoff syndrome	Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection.	GARD:0012356|UMLS:C3810012|OMIM:615582|DOID:0070236|EFO:1000012	mondo.json	Rienhoff syndrome|Loeys-Dietz syndrome 5|Loeys-Dietz syndrome type 5|LDS5	http://purl.obolibrary.org/obo/MONDO_0014262	https://omim.org/entry/615582|UMLS:C3810012|DOID:0070236	gard_rare
MONDO:0014261	biolink:Disease	growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene.	OMIM:615578|UMLS:C3810001|DOID:0111484|Orphanet:391348	mondo.json	COXPD18|combined oxidative phosphorylation deficiency caused by mutation in SFXN4|combined oxidative phosphorylation deficiency type 18|combined oxidative phosphorylation deficiency 18|SFXN4 combined oxidative phosphorylation deficiency	http://purl.obolibrary.org/obo/MONDO_0014261	DOID:0111484|https://omim.org/entry/615578|UMLS:C3810001|Orphanet:391348	ordo_disease
MONDO:0014260	biolink:Disease	immunodeficiency, common variable, 10	Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene.	OMIM:615577|UMLS:C3809991	mondo.json	NFKB2 common variable immunodeficiency|immunodeficiency, common variable, type 10|immunodeficiency, common variable, with central adrenal insufficiency|immunodeficiency, common variable, 10|Deficit in anterior pituitary function and variable immunodeficiency|CVID10|common variable immunodeficiency caused by mutation in NFKB2	http://purl.obolibrary.org/obo/MONDO_0014260	https://omim.org/entry/615577|UMLS:C3809991	
MONDO:0014266	biolink:Disease	age related macular degeneration 15	Any age-related macular degeneration in which the cause of the disease is a mutation in the C9 gene.	UMLS:C3810042|DOID:0110027|OMIM:615591	mondo.json	macular degeneration, age-related, 15, susceptibility to|macular degeneration, age-related, 15|C9 age-related macular degeneration|macular Degeneration, age-related, type 15|age-related macular degeneration caused by mutation in C9|ARMD15|age related macular degeneration type 15	http://purl.obolibrary.org/obo/MONDO_0014266	DOID:0110027|https://omim.org/entry/615591|UMLS:C3810042	
MONDO:0014265	biolink:Disease	Alzheimer disease 18	Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene.	UMLS:C3810041|OMIM:615590|DOID:0110050	mondo.json	Alzheimer disease 18, susceptibility to|Alzheimer disease caused by mutation in ADAM10|Alzheimer's disease type 18|AD18|Alzheimer disease 18|ADAM10 Alzheimer disease|Alzheimer disease type 18|Alzheimer's disease 18|Alzheimer disease 18, late-onset	http://purl.obolibrary.org/obo/MONDO_0014265	DOID:0110050|https://omim.org/entry/615590|UMLS:C3810041	
MONDO:0014264	biolink:Disease	otosclerosis 10		OMIM:615589	mondo.json	OTSC10|otosclerosis 10	http://purl.obolibrary.org/obo/MONDO_0014264	https://omim.org/entry/615589	
MONDO:0014263	biolink:Disease	8q24.3 microdeletion syndrome		UMLS:C3810023|OMIM:615583|GARD:0012814|Orphanet:508488	mondo.json	Verheij syndrome|chromosome 8Q24.3 deletion syndrome|VRJS	http://purl.obolibrary.org/obo/MONDO_0014263	https://omim.org/entry/615583|Orphanet:508488|UMLS:C3810023	ordo_malformation_syndrome
MONDO:0002288	biolink:Disease	obsolete ovarian cancer			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002288		
MONDO:0002289	biolink:Disease	iris disorder	A disease involving the iris.	UMLS:C0022078|SCTID:85478004|MESH:D007499|NCIT:C34737|DOID:240	mondo.json	iris disorder|iris disease or disorder|disorder of iris|disease of iris|disease or disorder of iris|iris disease	http://purl.obolibrary.org/obo/MONDO_0002289	NCIT:C34737|http://identifiers.org/mesh/D007499|UMLS:C0022078|http://identifiers.org/snomedct/85478004|DOID:240	
MONDO:0002284	biolink:Disease	obsolete gangliosidosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002284		
MONDO:0002285	biolink:Disease	pupil disorder	A disease involving the pupil.	DOID:238|UMLS:C0034124|SCTID:68633000	mondo.json	pupil disease|disease or disorder of pupil|pupil disease or disorder|disease of pupil|pupillary disorder|disorder of pupil	http://purl.obolibrary.org/obo/MONDO_0002285	http://identifiers.org/snomedct/68633000|UMLS:C0034124|DOID:238	
MONDO:0002286	biolink:Disease	renal artery disease	A disease involving the renal artery.	DOID:2388|UMLS:C3640053|SCTID:16934004|ICD9:593.81|NCIT:C101254|UMLS:C0268790	mondo.json	vascular disorder of kidney|renal vascular disease	http://purl.obolibrary.org/obo/MONDO_0002286	NCIT:C101254|DOID:2388|http://identifiers.org/snomedct/16934004|UMLS:C3640053|UMLS:C0268790	
MONDO:0002287	biolink:Disease	glandular cystitis	A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by metaplastic glandular cells.	UMLS:C0268837|ICD9:595.89|NCIT:C39860|DOID:2392|SCTID:72815004	mondo.json	cystitis glandularis	http://purl.obolibrary.org/obo/MONDO_0002287	DOID:2392|NCIT:C39860|UMLS:C0268837|http://identifiers.org/snomedct/72815004	
MONDO:0002280	biolink:Disease	anemia	A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability.	EFO:0004272|MESH:D000740|SCTID:271737000|ICD9:285.8|ICD9:285.9|HP:0001903|NCIT:C2869|DOID:2355	mondo.json	anemia (disease)|anaemia|anemia	http://purl.obolibrary.org/obo/MONDO_0002280	DOID:2355|http://identifiers.org/snomedct/271737000|NCIT:C2869|http://identifiers.org/mesh/D000740	
MONDO:0002281	biolink:Disease	macrocytic anemia	Anemia that is characterized by increased red blood cell volume.	MESH:D000748|NCIT:C34381|HP:0001972|UMLS:C0002886|DOID:2361|SCTID:83414005	mondo.json	macrocytic Anemia|macrocytic anaemia of unspecified cause|macrocytic anemia (disease)|anemia macrocytic|D22S676|macrocytic anemia|macrocytic anaemia|D22S750	http://purl.obolibrary.org/obo/MONDO_0002281	DOID:2361|http://identifiers.org/snomedct/83414005|UMLS:C0002886|NCIT:C34381|http://identifiers.org/mesh/D000748	
MONDO:0002282	biolink:Disease	West Nile fever	A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)	MESH:D014901|ICD9:066.4|SCTID:417093003|ICD9:066.40|DOID:2366	mondo.json	West Nile virus disease or disorder|West Nile virus infectious disease|West Nile virus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0002282	DOID:2366|http://identifiers.org/mesh/D014901|http://identifiers.org/snomedct/417093003	
MONDO:0002283	biolink:Disease	neuroaxonal dystrophy	A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)	MESH:D019150|NCIT:C161542|SCTID:230365004|DOID:2367|UMLS:C0338473	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002283	NCIT:C161542|http://identifiers.org/mesh/D019150|UMLS:C0338473|DOID:2367|http://identifiers.org/snomedct/230365004	
MONDO:0014259	biolink:Disease	neuronopathy, distal hereditary motor, type 2D	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene.	OMIM:615575|DOID:0111210	mondo.json	neuropathy, distal hereditary motor, type 2D|neuronopathy, distal hereditary motor caused by mutation in FBXO38|spinal muscular atrophy, distal, autosomal dominant, calf-predominant|HMN2D|neuronopathy, distal hereditary motor, type IID|FBXO38 neuronopathy, distal hereditary motor|HMN 2D	http://purl.obolibrary.org/obo/MONDO_0014259	DOID:0111210|https://omim.org/entry/615575	
MONDO:0014258	biolink:Disease	congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome		Orphanet:391376|OMIM:615574|UMLS:C3809971	mondo.json	congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome|Asns deficiency|ASNSD|asparagine synthetase deficiency	http://purl.obolibrary.org/obo/MONDO_0014258	Orphanet:391376|https://omim.org/entry/615574|UMLS:C3809971	ordo_disease
MONDO:0014257	biolink:Disease	nephrotic syndrome, type 9	Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene.	UMLS:C3809965|OMIM:615573|DOID:0080391	mondo.json	nephrotic syndrome, type 9|NPHS9|COQ8B nephrotic syndrome|nephrotic syndrome caused by mutation in COQ8B	http://purl.obolibrary.org/obo/MONDO_0014257	DOID:0080391|https://omim.org/entry/615573|UMLS:C3809965	
MONDO:0014256	biolink:Disease	retinitis pigmentosa 67	Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene.	OMIM:615565|DOID:0110359|ICD10CM:H35.5|UMLS:C3809954	mondo.json	RP67|retinitis pigmentosa caused by mutation in NEK2|retinitis pigmentosa type 67|retinitis pigmentosa 67|NEK2 retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0014256	DOID:0110359|https://omim.org/entry/615565|UMLS:C3809954	
MONDO:0014251	biolink:Disease	melioidosis, susceptibility to		OMIM:615557	mondo.json	susceptibility to melioidosis|melioidosis, susceptibility to|melioidosis, resistance to	http://purl.obolibrary.org/obo/MONDO_0014251	https://omim.org/entry/615557	predisposition
MONDO:0014250	biolink:Disease	familial hyperprolactinemia	Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.	SCTID:763715007|OMIM:615555|Orphanet:397685|ICD10CM:E22.1|UMLS:C0020514	mondo.json	hyperprolactinemia|familial isolated prolactin receptor deficiency|familial hyperprolactinemia|hereditary hyperprolactinemia (disease)|HPRL	http://purl.obolibrary.org/obo/MONDO_0014250	http://identifiers.org/snomedct/763715007|https://omim.org/entry/615555|Orphanet:397685	ordo_disease
MONDO:0014255	biolink:Disease	complement factor b deficiency		OMIM:615561|UMLS:C3809950	mondo.json	complement factor B deficiency|complement factor b deficiency|CFBD	http://purl.obolibrary.org/obo/MONDO_0014255	https://omim.org/entry/615561|UMLS:C3809950	
MONDO:0014254	biolink:Disease	otofaciocervical syndrome 2	Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene.	OMIM:615560|UMLS:C3714942	mondo.json	otofaciocervical syndrome type 2|otofaciocervical syndrome caused by mutation in PAX1|PAX1 otofaciocervical syndrome|OFC2|OTFCS2|otofaciocervical syndrome 2	http://purl.obolibrary.org/obo/MONDO_0014254	UMLS:C3714942|https://omim.org/entry/615560	
MONDO:0014253	biolink:Disease	obsolete autoimmune lymphoproliferative syndrome type 3	OBSOLETE. A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.		mondo.json	autoimmune lymphoproliferative syndrome, type 3|autoimmune lymphoproliferative syndrome, type III|PRKCD autoimmune lymphoproliferative syndrome|autoimmune lymphoproliferative syndrome-undetermined variant|type 3 ALPS|ALPS3|autoimmune lymphoproliferative syndrome caused by mutation in PRKCD|common variable immunodeficiency 9|CVID9|immunodeficiency, common variable, 9, formerly|autoimmune lymphoproliferative syndrome type III|immunodeficiency, common variable, 9|ALPS-U	http://purl.obolibrary.org/obo/MONDO_0014253		
MONDO:0014252	biolink:Disease	familial hypobetalipoproteinemia 1	Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene.	DOID:0111062|GARD:0002876|MESH:C566267|SCTID:60193003|OMIM:615558|UMLS:CN182502	mondo.json	hypobetalipoproteinemia, familial|FHBL1|familial hypobetalipoproteinemia type 1|hypobetalipoproteinemia|hypobetalipoproteinemia, familial, type 1|FHBL|familial hypobetalipoproteinemia 1|APOB hypobetalipoproteinemia|hypobetalipoproteinemia, familial, 1|acanthocytosis with hypobetalipoproteinemia|hypobetalipoproteinemia caused by mutation in APOB|hypobetalipoproteinemia, Normotriglyceridemic	http://purl.obolibrary.org/obo/MONDO_0014252	DOID:0111062|https://omim.org/entry/615558|http://identifiers.org/snomedct/60193003|UMLS:CN182502|http://identifiers.org/mesh/C566267	
UBERON:0035083	biolink:AnatomicalEntity	transverse process-bearing vertebra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035083		
GO:0009059	biolink:NamedThing	macromolecule biosynthetic process	The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass.		mondo.json	biopolymer biosynthetic process|macromolecule synthesis|macromolecule formation|macromolecule biosynthesis|macromolecule anabolism	http://purl.obolibrary.org/obo/GO_0009059		
GO:0009058	biolink:NamedThing	biosynthetic process	The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones.		mondo.json	anabolism|multicellular organismal biosynthetic process|formation|synthesis|single-organism biosynthetic process|biosynthesis	http://purl.obolibrary.org/obo/GO_0009058		
GO:0009057	biolink:NamedThing	macromolecule catabolic process	The chemical reactions and pathways resulting in the breakdown of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass.		mondo.json	biopolymer catabolic process|macromolecule breakdown|multicellular organismal macromolecule catabolic process|macromolecule catabolism|macromolecule degradation	http://purl.obolibrary.org/obo/GO_0009057		
GO:0009056	biolink:NamedThing	catabolic process	The chemical reactions and pathways resulting in the breakdown of substances, including the breakdown of carbon compounds with the liberation of energy for use by the cell or organism.		mondo.json	degradation|breakdown|single-organism catabolic process|catabolism|multicellular organismal catabolic process	http://purl.obolibrary.org/obo/GO_0009056		
GO:0009064	biolink:NamedThing	glutamine family amino acid metabolic process	The chemical reactions and pathways involving amino acids of the glutamine family, comprising arginine, glutamate, glutamine and proline.		mondo.json	glutamine family amino acid metabolism	http://purl.obolibrary.org/obo/GO_0009064		
GO:0009063	biolink:NamedThing	cellular amino acid catabolic process	The chemical reactions and pathways resulting in the breakdown of amino acids, organic acids containing one or more amino substituents.		mondo.json	amino acid catabolic process|cellular amino acid degradation|cellular amino acid catabolism|cellular amino acid breakdown	http://purl.obolibrary.org/obo/GO_0009063		
GO:0009060	biolink:NamedThing	aerobic respiration	The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which requires oxygen as the terminal electron acceptor.		mondo.json		http://purl.obolibrary.org/obo/GO_0009060		
UBERON:0035091	biolink:AnatomicalEntity	extrinsic post-anal tail muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035091		
UBERON:0035096	biolink:AnatomicalEntity	fascia of tail			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035096		
GO:0009069	biolink:NamedThing	serine family amino acid metabolic process	The chemical reactions and pathways involving amino acids of the serine family, comprising cysteine, glycine, homoserine, selenocysteine and serine.		mondo.json	serine family amino acid metabolism	http://purl.obolibrary.org/obo/GO_0009069		
GO:0009068	biolink:NamedThing	aspartate family amino acid catabolic process	The chemical reactions and pathways resulting in the breakdown of amino acids of the aspartate family, comprising asparagine, aspartate, lysine, methionine and threonine.		mondo.json	aspartate family amino acid degradation|aspartate family amino acid breakdown|aspartate family amino acid catabolism	http://purl.obolibrary.org/obo/GO_0009068		
GO:0009066	biolink:NamedThing	aspartate family amino acid metabolic process	The chemical reactions and pathways involving amino acids of the aspartate family, comprising asparagine, aspartate, lysine, methionine and threonine.		mondo.json	aspartate family amino acid metabolism	http://purl.obolibrary.org/obo/GO_0009066		
GO:0009074	biolink:NamedThing	aromatic amino acid family catabolic process	The chemical reactions and pathways resulting in the breakdown of aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan).		mondo.json	aromatic amino acid family breakdown|aromatic amino acid family catabolism|aromatic amino acid family degradation	http://purl.obolibrary.org/obo/GO_0009074		
GO:0009072	biolink:NamedThing	aromatic amino acid family metabolic process	The chemical reactions and pathways involving aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan).		mondo.json	aromatic amino acid family metabolism	http://purl.obolibrary.org/obo/GO_0009072		
GO:0009070	biolink:NamedThing	serine family amino acid biosynthetic process	The chemical reactions and pathways resulting in the formation of amino acids of the serine family, comprising cysteine, glycine, homoserine, selenocysteine and serine.		mondo.json	serine family amino acid synthesis|serine family amino acid formation|serine family amino acid anabolism|serine family amino acid biosynthesis	http://purl.obolibrary.org/obo/GO_0009070		
GO:0097689	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0097689		
NCBITaxon:12730	biolink:OrganismalEntity	Human respirovirus 1		GC_ID:1	mondo.json	Human parainfluenza virus 1|Human parainfluenza 1 virus|human parainfluenza virus|Parainfluenza virus type 1|human parainfluenza virus type 1 hPIV1|human parainfluenza virus type 1 HPIV-1|HPIV1|HPIV-1|Human parainfluenza virus type 1	http://purl.obolibrary.org/obo/NCBITaxon_12730		
HGNC:23287	biolink:NamedThing	ETHE1			mondo.json		http://identifiers.org/hgnc/23287		
GO:1901264	biolink:NamedThing	carbohydrate derivative transport	The directed movement of a carbohydrate derivative into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_1901264		
MONDO:0041879	biolink:Disease	staphylococcus aureus pneumonia	An pneumonia caused by infection with Staphylococcus aureus.	SCTID:441658007	mondo.json	staphylococcus aureus pneumonia|Staphylococcus aureus pneumonia|Staphylococcus aureus caused pneumonia|pneumonia due to staphylococcus aureus|pneumonia caused by staphylococcus aureus	http://purl.obolibrary.org/obo/MONDO_0041879	http://identifiers.org/snomedct/441658007	
GO:0097659	biolink:NamedThing	nucleic acid-templated transcription	The synthesis of an RNA transcript from a nucleic acid template (DNA or RNA).		mondo.json		http://purl.obolibrary.org/obo/GO_0097659		
SO:0000656	biolink:SequenceFeature	stRNA_encoding	A region that can be transcribed into a small temporal RNA (stRNA). Found in roundworm development.		mondo.json	stRNA encoding	http://purl.obolibrary.org/obo/SO_0000656		
SO:0000655	biolink:SequenceFeature	ncRNA	An RNA transcript that does not encode for a protein rather the RNA molecule is the gene product.		mondo.json	noncoding RNA|known_ncrna|INSDC_qualifier:other	http://purl.obolibrary.org/obo/SO_0000655		
SO:0000651	biolink:SequenceFeature	cytosolic_LSU_rRNA	Cytosolic LSU rRNA is an RNA component of the large subunit of cytosolic ribosomes.		mondo.json	cytosolic LSU rRNA|cytosolic LSU RNA|cytosolic large subunit rRNA	http://purl.obolibrary.org/obo/SO_0000651		
MONDO:0014291	biolink:Disease	autosomal dominant nonsyndromic hearing loss 54	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.	DOID:0110580|OMIM:615649	mondo.json	DFNA54|autosomal dominant deafness 54|autosomal dominant nonsyndromic deafness type 54|autosomal dominant nonsyndromic deafness 54|deafness, autosomal dominant 54	http://purl.obolibrary.org/obo/MONDO_0014291	DOID:0110580|https://omim.org/entry/615649	
MONDO:0014290	biolink:Disease	neurodegeneration with brain iron accumulation 6	COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.	SCTID:732264002|UMLS:C3810230|Orphanet:397725|GARD:0012571|DOID:0110740|OMIM:615643	mondo.json	neurodegeneration with brain iron accumulation caused by mutation in COASY|COASY neurodegeneration with brain iron accumulation|neurodegeneration with brain iron accumulation 6|NBIA6|CoPAN|neurodegeneration with brain iron accumulation type 6|neurodegeneration with brain iron accumulation due to COASY mutation|COASY protein-associated neurodegeneration	http://purl.obolibrary.org/obo/MONDO_0014290	UMLS:C3810230|http://identifiers.org/snomedct/732264002|DOID:0110740|https://omim.org/entry/615643|Orphanet:397725	ordo_disease
GO:0010032	biolink:NamedThing	meiotic chromosome condensation	Compaction of chromatin structure prior to meiosis in eukaryotic cells.		mondo.json	chromosome condensation involved in meiotic cell cycle	http://purl.obolibrary.org/obo/GO_0010032		
GO:0010033	biolink:NamedThing	response to organic substance	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus.		mondo.json	process resulting in tolerance to organic substance	http://purl.obolibrary.org/obo/GO_0010033		
MONDO:0014295	biolink:Disease	hereditary spastic paraplegia 57	An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.	EFO:0009017|Orphanet:431329|UMLS:C3714897|DOID:0110809|SCTID:723826007|UMLS:C4510084|OMIM:615658	mondo.json	hereditary spastic paraplegia caused by mutation in TFG|spastic paraplegia due to partial TFG deficiency|autosomal recessive spastic paraplegia type 57|hereditary spastic paraplegia type 57|spastic paraplegia 57, autosomal recessive|SPG57|TFG hereditary spastic paraplegia|autosomal recessive spastic paraplegia 57	http://purl.obolibrary.org/obo/MONDO_0014295	UMLS:C4510084|http://identifiers.org/snomedct/723826007|Orphanet:431329|UMLS:C3714897|https://omim.org/entry/615658|DOID:0110809	ordo_disease
MONDO:0014294	biolink:Disease	chromosome 15q11.2 deletion syndrome	15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).	DOID:0060393|GARD:0010525|UMLS:C3180937|Orphanet:261183|OMIM:615656	mondo.json	chromosome 15q11.2 deletion syndrome|chromosome 15q11.2 deletion|15q11.2 microdeletion|15q11.2 BP1-BP2 microdeletion syndrome|Del(15)(q11.2)|15q11.2 microdeletion syndrome|chromosome 15q11.2 microdeletion|monosomy 15q11.2	http://purl.obolibrary.org/obo/MONDO_0014294	Orphanet:261183|UMLS:C3180937|DOID:0060393|https://omim.org/entry/615656	ordo_malformation_syndrome
GO:0022008	biolink:NamedThing	neurogenesis	Generation of cells within the nervous system.		mondo.json	nervous system cell generation|neural cell differentiation	http://purl.obolibrary.org/obo/GO_0022008		
MONDO:0014293	biolink:Disease	autosomal dominant nonsyndromic hearing loss 58	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12.	OMIM:615654|DOID:0110582	mondo.json	autosomal dominant nonsyndromic deafness type 58|autosomal dominant nonsyndromic deafness 58|DFNA58|autosomal dominant deafness 58|deafness, autosomal dominant 58	http://purl.obolibrary.org/obo/MONDO_0014293	DOID:0110582|https://omim.org/entry/615654	
MONDO:0014292	biolink:Disease	leukoencephalopathy with mild cerebellar ataxia and white matter edema		SCTID:768663003|NCIT:C171603|UMLS:C3810242|Orphanet:363540|OMIM:615651	mondo.json	leukoencephalopathy with ataxia|LKPAT	http://purl.obolibrary.org/obo/MONDO_0014292	NCIT:C171603|http://identifiers.org/snomedct/768663003|Orphanet:363540|https://omim.org/entry/615651	ordo_disease
MONDO:0014299	biolink:Disease	schwannomatosis 2		UMLS:C3810283|OMIM:615670	mondo.json	schwannomatosis-2, susceptibility to|SWNTS2|SCHWANNOMATOSIS 2|Schwannomatosis type 2|schwannomatosis 2	http://purl.obolibrary.org/obo/MONDO_0014299	https://omim.org/entry/615670|UMLS:C3810283	
MONDO:0014298	biolink:Disease	chromosome 5q12 deletion syndrome	PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.	Orphanet:439822|OMIM:615668|UMLS:C3810282|DOID:0060421	mondo.json	chromosome 5q12 deletion syndrome|PDE4D haploinsufficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0014298	https://omim.org/entry/615668|DOID:0060421|UMLS:C3810282|Orphanet:439822	ordo_malformation_syndrome
MONDO:0014297	biolink:Disease	Joubert syndrome 22	Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene.	UMLS:C3810278|OMIM:615665|DOID:0110991	mondo.json	PDE6D Joubert syndrome|Joubert syndrome type 22|JBTS22|Joubert syndrome caused by mutation in PDE6D|Joubert syndrome 22	http://purl.obolibrary.org/obo/MONDO_0014297	https://omim.org/entry/615665|DOID:0110991|UMLS:C3810278	
MONDO:0014296	biolink:Disease	Warburg micro syndrome 4	Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene.	UMLS:C3810265|OMIM:615663|DOID:0110719	mondo.json	Warburg micro syndrome caused by mutation in TBC1D20|WARBM4|Warburg micro syndrome type 4|micro syndrome 4|TBC1D20 Warburg micro syndrome|WARBURG micro syndrome 4|Warburg micro syndrome 4	http://purl.obolibrary.org/obo/MONDO_0014296	UMLS:C3810265|https://omim.org/entry/615663|DOID:0110719	
MONDO:0004878	biolink:Disease	female breast upper-outer quadrant cancer		DOID:9773|UMLS:C0153552|SCTID:188154003|ICD9:174.4	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004878	http://identifiers.org/snomedct/188154003|DOID:9773|UMLS:C0153552	
MONDO:0002215	biolink:Disease	obsolete atypical teratoid rhabdoid tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002215		
MONDO:0004877	biolink:Disease	transient neonatal thrombocytopenia		ICD9:776.1|UMLS:C0158991|DOID:9771|SCTID:23205009|ICD10CM:P61.0	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004877	http://purl.bioontology.org/ontology/ICD10CM/P61.0|DOID:9771|http://identifiers.org/snomedct/23205009|UMLS:C0158991	
MONDO:0002216	biolink:Disease	brain sarcoma	A sarcoma arising from the brain.	DOID:2132|NCIT:C5154|UMLS:C1332607	mondo.json	sarcoma of brain|primary brain sarcoma|sarcoma of the brain|brain sarcoma	http://purl.obolibrary.org/obo/MONDO_0002216	DOID:2132|NCIT:C5154|UMLS:C1332607	
MONDO:0002217	biolink:Disease	central nervous system sarcoma	A sarcoma that arises from the central nervous system.	DOID:2133|NCIT:C5153|UMLS:C1332892	mondo.json	CNS sarcoma|sarcoma of CNS|sarcoma of central nervous system|sarcoma of the CNS|sarcoma of the central nervous system|central nervous system sarcoma	http://purl.obolibrary.org/obo/MONDO_0002217	DOID:2133|NCIT:C5153|UMLS:C1332892	
MONDO:0002218	biolink:Disease	temporal lobe cancer	A cancer that involves the temporal lobe.	ICD10CM:C71.2|SCTID:363468009|ICD9:191.2|UMLS:C0153636|DOID:2135	mondo.json	malignant temporal lobe neoplasm|temporal lobe neoplasm|malignant neoplasm of temporal lobe|cancer of temporal lobe|temporal lobe cancer	http://purl.obolibrary.org/obo/MONDO_0002218	DOID:2135|http://purl.bioontology.org/ontology/ICD10CM/C71.2|http://identifiers.org/snomedct/363468009|UMLS:C0153636	
MONDO:0004879	biolink:Disease	senile atrophy of choroid		DOID:9776|SCTID:38513001|UMLS:C0154891|ICD9:363.41	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004879	http://identifiers.org/snomedct/38513001|DOID:9776|UMLS:C0154891	
MONDO:0002211	biolink:Disease	B cell deficiency	A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient.	NCIT:C4799|ICD9:279.03|DOID:2115	mondo.json	immunoglobulin heavy chain deficiency|deficiency of humoral immunity|B cell (antibody) deficiencies|B-cell deficiency|immunoglobulin heavy chain deletion	http://purl.obolibrary.org/obo/MONDO_0002211	NCIT:C4799|DOID:2115	
MONDO:0004874	biolink:Disease	ganglion or cyst of synovium/tendon/bursa		ICD9:727.49|DOID:9754	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004874	DOID:9754	
UBERON:0035041	biolink:AnatomicalEntity	deep temporal artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035041		
MONDO:0002212	biolink:Disease	pneumonic tularemia	A tularemia that is located in lungs. The bacteria are transmitted by breathing dusts or aerosols containing the organisms. The infection has symptom cough, has symptom chest has symptom pain, and has symptom difficulty breathing.	SCTID:45556008|UMLS:C0339946|ICD9:021.2|DOID:2122	mondo.json	pulmonary tularemia|bronchopneumonic tularemia|pneumonic tularaemia	http://purl.obolibrary.org/obo/MONDO_0002212	UMLS:C0339946|DOID:2122|http://identifiers.org/snomedct/45556008	
MONDO:0004873	biolink:Disease	internal hemorrhoid	A hemorrhoid which originates above the dentate line.	ICD9:455.2|UMLS:C0265034|DOID:9749|SCTID:90458007|ICD9:455.6|NCIT:C35319	mondo.json	internal hemorrhoid	http://purl.obolibrary.org/obo/MONDO_0004873	DOID:9749|http://identifiers.org/snomedct/90458007|NCIT:C35319|UMLS:C0265034	
MONDO:0002213	biolink:Disease	obsolete tularemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002213		
MONDO:0004876	biolink:Disease	myocardial stunning	Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity.	UMLS:C0206146|MESH:D017682|DOID:9767	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004876	DOID:9767|http://identifiers.org/mesh/D017682|UMLS:C0206146	
MONDO:0004875	biolink:Disease	xanthogranulomatous cholecystitis	Cholecystitis that is characterized by nodules containing lipid.	SCTID:448286002|GARD:0009451|NCIT:C35792|UMLS:C1337035|MESH:C536762|DOID:9766	mondo.json	CX	http://purl.obolibrary.org/obo/MONDO_0004875	DOID:9766|NCIT:C35792|http://identifiers.org/mesh/C536762|http://identifiers.org/snomedct/448286002|UMLS:C1337035	gard_rare
MONDO:0002214	biolink:Disease	brain germinoma	A germinoma (disease) that involves the brain.	UMLS:C1332606|NCIT:C6284|DOID:2127	mondo.json	germinoma of the brain|germinoma of brain|brain germinoma (disease)|intracranial germinoma	http://purl.obolibrary.org/obo/MONDO_0002214	UMLS:C1332606|DOID:2127|NCIT:C6284	
UBERON:0035045	biolink:AnatomicalEntity	parotid gland intralobular duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035045		
MONDO:0004870	biolink:Disease	obsolete diabetic neuropathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004870		
MONDO:0004872	biolink:Disease	hemorrhoid	Dilated veins in the anal canal.	ICD9:455.8|ICD9:455|SCTID:70153002|NCIT:C26792|MESH:D006484|DOID:9746|UMLS:C0019112	mondo.json	hemorrhoidal disease|Hemorrhoids|hemorrhoid	http://purl.obolibrary.org/obo/MONDO_0004872	http://identifiers.org/snomedct/70153002|NCIT:C26792|DOID:9746|UMLS:C0019112|http://identifiers.org/mesh/D006484	
MONDO:0004871	biolink:Disease	perianal hematoma		ICD9:455.4|SCTID:26373009|DOID:9745	mondo.json	external thrombosed haemorrhoids|Thrombosed external hemorrhoids	http://purl.obolibrary.org/obo/MONDO_0004871	DOID:9745|http://identifiers.org/snomedct/26373009	
MONDO:0002210	biolink:Disease	obsolete vulva squamous cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002210		
UBERON:0035049	biolink:AnatomicalEntity	excretory duct of salivary gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035049		
UBERON:0035048	biolink:AnatomicalEntity	parotid gland excretory duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035048		
MONDO:0014204	biolink:Disease	basal ganglia calcification, idiopathic, 5		UMLS:C3809645|OMIM:615483	mondo.json	basal ganglia calcification, idiopathic, type 5|basal ganglia calcification, idiopathic, 5|IBGC5	http://purl.obolibrary.org/obo/MONDO_0014204	UMLS:C3809645|https://omim.org/entry/615483	
MONDO:0016867	biolink:Disease	partial deletion of chromosome 2		Orphanet:261771	mondo.json	partial monosomy of chromosome 2|partial deletion of chromosome type 2	http://purl.obolibrary.org/obo/MONDO_0016867	Orphanet:261771	disease_grouping|ordo_group_of_disorders
MONDO:0014203	biolink:Disease	primary ciliary dyskinesia 25	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene.	UMLS:C3809641|DOID:0110615|OMIM:615482	mondo.json	ciliary dyskinesia, primary, 25, with or without situs inversus|DNAAF4 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 25|CILD25|primary ciliary dyskinesia type 25|primary ciliary dyskinesia caused by mutation in DNAAF4|ciliary dyskinesia, primary, 25|primary ciliary dyskinesia 25 with or without situs inversus	http://purl.obolibrary.org/obo/MONDO_0014203	UMLS:C3809641|https://omim.org/entry/615482|DOID:0110615	
MONDO:0016868	biolink:Disease	partial deletion of chromosome 3		Orphanet:261776	mondo.json	partial deletion of chromosome type 3|partial monosomy of chromosome 3	http://purl.obolibrary.org/obo/MONDO_0016868	Orphanet:261776	ordo_group_of_disorders|disease_grouping
MONDO:0016869	biolink:Disease	partial deletion of chromosome 4		Orphanet:261781	mondo.json	partial monosomy of chromosome 4|partial deletion of chromosome type 4	http://purl.obolibrary.org/obo/MONDO_0016869	Orphanet:261781	disease_grouping|ordo_group_of_disorders
MONDO:0014202	biolink:Disease	primary ciliary dyskinesia 24	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 gene.	DOID:0110628|UMLS:C3809634|OMIM:615481	mondo.json	primary ciliary dyskinesia 24 without situs inversus|ciliary dyskinesia, primary, 24, without situs inversus|RSPH1 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 24|primary ciliary dyskinesia caused by mutation in RSPH1|primary ciliary dyskinesia 24|primary ciliary dyskinesia type 24|CILD24|ciliary dyskinesia, primary, 24	http://purl.obolibrary.org/obo/MONDO_0014202	https://omim.org/entry/615481|DOID:0110628|UMLS:C3809634	
MONDO:0014201	biolink:Disease	developmental and epileptic encephalopathy, 18		Orphanet:369894|UMLS:C3809624|DOID:0080413|OMIM:615476	mondo.json	DEE18|epileptic encephalopathy, early infantile, 18|EIEE18|epileptic encephalopathy, early infantile, type 18|developmental and epileptic encephalopathy 18|early infantile epileptic encephalopathy without suppression burst	http://purl.obolibrary.org/obo/MONDO_0014201	DOID:0080413|https://omim.org/entry/615476|Orphanet:369894|UMLS:C3809624	ordo_disease
MONDO:0014208	biolink:Disease	Charcot-Marie-Tooth disease type 2R	Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene.	Orphanet:397968|GARD:0012451|OMIM:615490|DOID:0110161|UMLS:C3809655	mondo.json	Charcot-Marie-Tooth disease, type 2R|Charcot-Marie-Tooth disease type 2R|Charcot-Marie-Tooth neuropathy, type 2R|autosomal recessive axonal Charcot-Marie-Tooth disease type 2R|Charcot-Marie-Tooth disease, axonal, type 2R|CMT2R|TRIM2 Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth neuropathy type 2R|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2R|Charcot-Marie-Tooth disease type 2 caused by mutation in TRIM2	http://purl.obolibrary.org/obo/MONDO_0014208	https://omim.org/entry/615490|UMLS:C3809655|Orphanet:397968|DOID:0110161	ordo_disease|gard_rare
MONDO:0016863	biolink:Disease	Okihiro syndrome due to 20q13 microdeletion		UMLS:CN202208|Orphanet:261638	mondo.json	Okihiro syndrome due to monosomy 20q13|Okihiro syndrome due to del(20)(q13)|Duane-radial ray syndrome due to monosomy 20q13	http://purl.obolibrary.org/obo/MONDO_0016863	UMLS:CN202208|Orphanet:261638	ordo_etiological_subtype
MONDO:0014207	biolink:Disease	age related macular degeneration 14	An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21.	OMIM:615489|DOID:0110026	mondo.json	ARMD14|macular Degeneration, age-related, reduced risk of|macular degeneration, age-related, 14|macular Degeneration, age-related, type 14|age related macular degeneration type 14|macular degeneration, age-related, 14, reduced risk of, digenic dominant	http://purl.obolibrary.org/obo/MONDO_0014207	https://omim.org/entry/615489|DOID:0110026	
MONDO:0016864	biolink:Disease	Okihiro syndrome due to a point mutation		Orphanet:261647|UMLS:CN202209	mondo.json	Duane-radial ray syndrome due to a point mutation	http://purl.obolibrary.org/obo/MONDO_0016864	UMLS:CN202209|Orphanet:261647	ordo_etiological_subtype
MONDO:0014206	biolink:Disease	severe early-onset pulmonary alveolar proteinosis due to MARS deficiency		Orphanet:370088|OMIM:615486|UMLS:C4225400|Orphanet:440427|UMLS:C3809651	mondo.json	ILLD|interstitial lung and liver disease|hereditary pulmonary alveolar proteinosis with hepatic involvement|infantile liver failure syndrome 2, formerly|PAP, Reunion island type|infantile liver failure syndrome 2|pulmonary alveolar proteinosis, Reunion Island|pulmonary alveolar proteinosis, Reunion island type	http://purl.obolibrary.org/obo/MONDO_0014206	https://omim.org/entry/615486|Orphanet:440427|UMLS:C4225400	ordo_disease
MONDO:0016865	biolink:Disease	Kleefstra syndrome due to a point mutation		Orphanet:261652|UMLS:CN202210	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016865	UMLS:CN202210|Orphanet:261652	ordo_etiological_subtype
MONDO:0014205	biolink:Disease	severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome		OMIM:615485|UMLS:C3809650|Orphanet:352577	mondo.json	severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome|BAINBRIDGE-ROPERS syndrome|BRPS|Bainbridge-Roppers syndrome	http://purl.obolibrary.org/obo/MONDO_0014205	UMLS:C3809650|Orphanet:352577|https://omim.org/entry/615485	ordo_disease
MONDO:0016866	biolink:Disease	partial deletion of chromosome 1		Orphanet:261766	mondo.json	partial deletion of chromosome type 1|partial monosomy of chromosome 1	http://purl.obolibrary.org/obo/MONDO_0016866	Orphanet:261766	ordo_group_of_disorders|disease_grouping
HGNC:11283	biolink:NamedThing	SRC			mondo.json		http://identifiers.org/hgnc/11283		
MONDO:0016860	biolink:Disease	familial adenomatous polyposis due to 5q22.2 microdeletion		UMLS:CN202203|Orphanet:261584	mondo.json	colorectal adenomatous polyposis due to monosomy 5q22.2|familial adenomatous polyposis due to monosomy 5q22.2|FAP due to monosomy 5q22.2|familial polyposis coli due to monosomy 5q22.2|familial adenomatous polyposis due to del(5)(q22.2)	http://purl.obolibrary.org/obo/MONDO_0016860	UMLS:CN202203|Orphanet:261584	ordo_etiological_subtype
MONDO:0016861	biolink:Disease	Alagille syndrome due to 20p12 microdeletion		Orphanet:261600|UMLS:CN202205|OMIM:118450	mondo.json	Alagille-Watson syndrome due to monosomy 20p12|Alagille syndrome due to del(20)(p12)|Alagille syndrome due to monosomy 20p12|syndromic bile duct paucity due to monosomy 20p12|Arteriohepatic dysplasia due to monosomy 20p12	http://purl.obolibrary.org/obo/MONDO_0016861	UMLS:CN202205|Orphanet:261600	ordo_etiological_subtype
NCBITaxon:34105	biolink:OrganismalEntity	Streptobacillus moniliformis		PMID:24912824|PMID:25858245|GC_ID:11	mondo.json	Haverhillia moniliformis|Proactinomyces muris|Streptothrix muris ratti|Actinomyces muris|Asterococcus muris|Nocardia muris|Actinomyces muris ratti|Haverhillia multiformis|"Actinobacillus muris" (de Mello and Pais 1918) Wilson and Miles 1955	http://purl.obolibrary.org/obo/NCBITaxon_34105		
HGNC:11281	biolink:NamedThing	SRA1			mondo.json		http://identifiers.org/hgnc/11281		
MONDO:0016862	biolink:Disease	Alagille syndrome due to a JAG1 point mutation		UMLS:CN202206|OMIM:118450|Orphanet:261619|UMLS:C1956125	mondo.json	Alagille-Watson syndrome|Alagille-Watson syndrome due to a JAG1 point mutation|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia due to a JAG1 point mutation|syndromic bile duct paucity due to a JAG1 point mutation|Alagille syndrome 1|cholestasis with peripheral pulmonary stenosis|Alagille syndrome type 1|arteriohepatic dysplasia|Alagille syndrome due to a JAG1 point mutation|ALGS1	http://purl.obolibrary.org/obo/MONDO_0016862	UMLS:CN202206|Orphanet:261619|https://omim.org/entry/118450|UMLS:C1956125	ordo_etiological_subtype
HGNC:11280	biolink:NamedThing	SQSTM1			mondo.json		http://identifiers.org/hgnc/11280		
MONDO:0014200	biolink:Disease	aldosterone-producing adenoma with seizures and neurological abnormalities		OMIM:615474|Orphanet:369929|UMLS:C3809609|Orphanet:85142	mondo.json	aldosterone-secreting adenoma with seizures and neurological abnormalities|PASNA|Conn adenoma|APA with seizures and neurological abnormalities|Conn adenoma with seizures and neurological abnormalities|aldosteronoma|aldosterone-secreting adenoma|primary aldosteronism, seizures, and neurologic abnormalities|primary aldosteronism due to Conn adenoma	http://purl.obolibrary.org/obo/MONDO_0014200	https://omim.org/entry/615474|UMLS:C3809609|Orphanet:369929	ordo_disease
MONDO:0002208	biolink:Disease	obsolete vulva adenocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002208		
MONDO:0002209	biolink:Disease	heel spur	A bony outgrowth on the lower surface of the calcaneus. Though often presenting along with plantar fasciitis (fasciitis, plantar), they are not considered causally related.	MESH:D036982|UMLS:C0158322|SCTID:55260003|DOID:210|ICD9:726.73|ICD10CM:M77.3	mondo.json	calcaneus exostosis|calcaneal spur	http://purl.obolibrary.org/obo/MONDO_0002209	http://identifiers.org/snomedct/55260003|http://identifiers.org/mesh/D036982|http://purl.bioontology.org/ontology/ICD10CM/M77.3|DOID:210|UMLS:C0158322	
NCBITaxon:34104	biolink:OrganismalEntity	Streptobacillus		PMID:26438009|PMID:24912824|PMID:25858245|GC_ID:11	mondo.json	Haverhillia	http://purl.obolibrary.org/obo/NCBITaxon_34104		
HGNC:11285	biolink:NamedThing	SRD5A2			mondo.json		http://identifiers.org/hgnc/11285		
MONDO:0004889	biolink:Disease	total central choroidal atrophy		UMLS:C0154898|SCTID:392049002|ICD9:363.54|DOID:9820	mondo.json	total central choroidal atrophy|total central choroid atrophy|central gyrate choroidal dystrophy|total central dystrophy of choroid|helicoid choroid dystrophy|choroidal dystrophy, serpiginous	http://purl.obolibrary.org/obo/MONDO_0004889	UMLS:C0154898|DOID:9820|http://identifiers.org/snomedct/392049002	
MONDO:0002226	biolink:Disease	tuberculous oophoritis	An urogenital tuberculosis involving a pathogenic inflammatory response in the ovary.	SCTID:84194006|UMLS:C0275932|ICD9:016.60|DOID:2148|ICD9:016.6	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002226	UMLS:C0275932|http://identifiers.org/snomedct/84194006|DOID:2148	
PO:0025530	biolink:NamedThing	reproductive shoot system development stage	A shoot system development stage (PO:0025527) that has as primary participant a reproductive shoot system (PO:0025082).	PO_GIT:517	mondo.json		http://purl.obolibrary.org/obo/PO_0025530		
MONDO:0002227	biolink:Disease	ovarian lymphoma	A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected.	UMLS:C1518720|DOID:2150|NCIT:C40021	mondo.json	ovarian lymphoma|primary ovarian lymphoma|ovary lymphoma|lymphoma of ovary	http://purl.obolibrary.org/obo/MONDO_0002227	UMLS:C1518720|NCIT:C40021|DOID:2150	
MONDO:0004888	biolink:Disease	partial circumpapillary choroid dystrophy		UMLS:C0154895|DOID:9811|SCTID:193466003|ICD9:363.51	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004888	UMLS:C0154895|http://identifiers.org/snomedct/193466003|DOID:9811	
SO:0000673	biolink:SequenceFeature	transcript	An RNA synthesized on a DNA or RNA template by an RNA polymerase.		mondo.json	INSDC_feature:misc_RNA	http://purl.obolibrary.org/obo/SO_0000673		
UBERON:0035050	biolink:AnatomicalEntity	excretory duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035050		
MONDO:0002228	biolink:Disease	obsolete malignant ovarian surface epithelial-stromal neoplasm			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002228		
MONDO:0002229	biolink:Disease	ovarian epithelial tumor	A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor.	NCIT:C4381|ICD9:239.5|DOID:2152|SCTID:237057005|ONCOTREE:OVT|UMLS:C0341823	mondo.json	epithelial tumor of ovary|ovarian surface epithelial-stromal tumor|ovary epithelial cancer|ovary epithelial neoplasm|ovarian surface-epithelial stromal neoplasm|epithelial tumor of the ovary|epithelial neoplasm of the ovary|OVT|ovarian epithelial tumor|epithelial neoplasm of ovary	http://purl.obolibrary.org/obo/MONDO_0002229	UMLS:C0341823|NCIT:C4381|http://identifiers.org/snomedct/237057005|DOID:2152	
MONDO:0002222	biolink:Disease	urethra leiomyoma	A benign smooth muscle neoplasm arising from the urethra. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	NCIT:C6171|UMLS:C1336888|DOID:2142	mondo.json	leiomyoma of the urethra|leiomyoma of urethra|urethra leiomyoma|urethral leiomyoma	http://purl.obolibrary.org/obo/MONDO_0002222	UMLS:C1336888|DOID:2142|NCIT:C6171	
MONDO:0004885	biolink:Disease	choroidal sclerosis	A neurodegenerative disease that involves the optic choroid.	OMIM:215500|DOID:980|ICD9:363.40|ICD9:363.4|SCTID:406446000|MESH:C535358	mondo.json	neurodegenerative disease of optic choroid|optic choroid neurodegenerative disease|choroidal degenerations	http://purl.obolibrary.org/obo/MONDO_0004885	DOID:980|http://identifiers.org/mesh/C535358|http://identifiers.org/snomedct/406446000	
MONDO:0004884	biolink:Disease	eye degenerative disorder	A neurodegenerative disease that involves the eye.	ICD9:360.4|ICD9:360.40|ICD9:360.2|SCTID:62585004|ICD10CM:H44.5|ICD9:360.20|DOID:9799|UMLS:C0154777|ICD9:360.29	mondo.json	degenerative disorder of globe|eye neurodegenerative disease|neurodegenerative disease of eyeball of camera-type eye|degenerative disorder of eye|eyeball of camera-type eye neurodegenerative disease	http://purl.obolibrary.org/obo/MONDO_0004884	DOID:9799|UMLS:C0154777|http://identifiers.org/snomedct/62585004|http://purl.bioontology.org/ontology/ICD10CM/H44.5	
MONDO:0002223	biolink:Disease	ovarian malignant mesothelioma	A rare malignant mesothelial neoplasm that usually involves both the ovarian surface and the ovarian stroma. In most cases there is bilateral ovarian involvement.	UMLS:C1518721|NCIT:C40444|DOID:2143	mondo.json	malignant mesothelioma (disease) of ovary|ovary malignant mesothelioma (disease)|ovarian malignant mesothelioma	http://purl.obolibrary.org/obo/MONDO_0002223	UMLS:C1518721|NCIT:C40444|DOID:2143	
MONDO:0002224	biolink:Disease	malignant ovarian cyst	A cystic cancerous tumor arising from the ovary.	UMLS:C0235770|DOID:2145|NCIT:C3843	mondo.json	ovarian cyst (disease), malignant|malignant ovarian cyst|malignant ovarian cyst (disease)	http://purl.obolibrary.org/obo/MONDO_0002224	NCIT:C3843|UMLS:C0235770|DOID:2145	
MONDO:0004887	biolink:Disease	obsolete polyarteritis nodosa			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004887		
MONDO:0002225	biolink:Disease	ovarian sarcoma	A rare, aggressive malignant mesenchymal neoplasm that arises from the ovary. The prognosis is poor.	SCTID:423627007|NCIT:C8267|DOID:2146|UMLS:C0280746	mondo.json	ovary sarcoma|sarcoma of the ovary|ovarian sarcoma|sarcoma of ovary	http://purl.obolibrary.org/obo/MONDO_0002225	http://identifiers.org/snomedct/423627007|NCIT:C8267|DOID:2146|UMLS:C0280746	
MONDO:0004886	biolink:Disease	diffuse secondary choroid atrophy		DOID:981|ICD9:363.42|UMLS:C0154892|SCTID:193463006	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004886	UMLS:C0154892|http://identifiers.org/snomedct/193463006|DOID:981	
UBERON:0035053	biolink:AnatomicalEntity	interlobular duct of salivary gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035053		
MONDO:0004881	biolink:Disease	myositis fibrosa	A form of myositis that is characterized by the formation of connective tissue within the muscle.	NCIT:C26985|ICD10CM:M60.1|ICD9:728.81|SCTID:55925001|DOID:9788|UMLS:C0158362	mondo.json	interstitial myositis	http://purl.obolibrary.org/obo/MONDO_0004881	NCIT:C26985|UMLS:C0158362|http://identifiers.org/snomedct/55925001|http://purl.bioontology.org/ontology/ICD10CM/M60.1|DOID:9788	
MONDO:0004880	biolink:Disease	bowel dysfunction	Any disease in which the causes of the disease is a perturbation of the lower digestive tract leading to its dysfunction.	ICD9:564.9|UMLS:C2004461|DOID:9779|SCTID:235594008	mondo.json	lower digestive tract disease|disease of lower digestive tract	http://purl.obolibrary.org/obo/MONDO_0004880	UMLS:C2004461|http://identifiers.org/snomedct/235594008|DOID:9779	
GO:0048636	biolink:NamedThing	positive regulation of muscle organ development	Any process that activates, maintains or increases the rate of muscle development.		mondo.json	up regulation of muscle development|stimulation of muscle development|up-regulation of muscle development|activation of muscle development|upregulation of muscle development	http://purl.obolibrary.org/obo/GO_0048636		
MONDO:0002220	biolink:Disease	tooth hard tissue disease		SCTID:46557008|ICD9:521.89|ICD9:521.8|ICD10CM:K03|UMLS:C0155926|DOID:214	mondo.json	teeth hard tissue diseases|disorder of hard tissues of teeth|teeth hard tissue disease	http://purl.obolibrary.org/obo/MONDO_0002220	DOID:214|http://identifiers.org/snomedct/46557008|http://purl.bioontology.org/ontology/ICD10CM/K03|UMLS:C0155926	
MONDO:0004883	biolink:Disease	hereditary choroidal atrophy		DOID:9794|ICD9:363.5|ICD9:363.50|UMLS:C0154893|SCTID:74469006	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004883	DOID:9794|UMLS:C0154893|http://identifiers.org/snomedct/74469006	
GO:0048635	biolink:NamedThing	negative regulation of muscle organ development	Any process that stops, prevents, or reduces the frequency, rate or extent of muscle development.		mondo.json	downregulation of muscle development|down regulation of muscle development|inhibition of muscle development|down-regulation of muscle development	http://purl.obolibrary.org/obo/GO_0048635		
MONDO:0002221	biolink:Disease	urethral urothelial papilloma	Papilloma's are benign epithelial neoplasms that produce visible warty projections from epithelial surfaces. Papilloma's of the urethra typically occur just within or on the external meatus. - 2003	NCIT:C5061|UMLS:C1519826|DOID:2140	mondo.json	urethra urothelial papilloma|urethral urothelial papilloma	http://purl.obolibrary.org/obo/MONDO_0002221	DOID:2140|NCIT:C5061|UMLS:C1519826	
MONDO:0004882	biolink:Disease	angioid streaks of choroid	A angioid streaks that involves the optic choroid.	DOID:979|SCTID:86103006|UMLS:C0002983|ICD9:363.43	mondo.json	angioid streaks of optic choroid|optic choroid angioid streaks	http://purl.obolibrary.org/obo/MONDO_0004882	http://identifiers.org/snomedct/86103006|UMLS:C0002983|DOID:979	
GO:0048634	biolink:NamedThing	regulation of muscle organ development	Any process that modulates the frequency, rate or extent of muscle development.		mondo.json		http://purl.obolibrary.org/obo/GO_0048634		
MONDO:0016849	biolink:Disease	obsolete Nakajo-Nishimura syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016849		
MONDO:0016856	biolink:Disease	Mowat-Wilson syndrome due to a ZEB2 point mutation		Orphanet:261552|UMLS:CN202199	mondo.json	Hirschsprung disease and intellectual disability due to a ZEB2 point mutation	http://purl.obolibrary.org/obo/MONDO_0016856	UMLS:CN202199|Orphanet:261552	ordo_etiological_subtype
MONDO:0016857	biolink:Disease	blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome	Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay.	Orphanet:261559|UMLS:CN202200	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016857	UMLS:CN202200|Orphanet:261559	ordo_etiological_subtype
MONDO:0041825	biolink:Disease	bacterial meningitis caused by gram-negative bacteria		SCTID:425887005|UMLS:C0854215	mondo.json	bacterial meningitis caused by gram-negative bacteria|meningitis with gram negative bacteria|bacterial meningitis due to gram-negative bacteria|gram-negative bacterial meningitis	http://purl.obolibrary.org/obo/MONDO_0041825	UMLS:C0854215|http://identifiers.org/snomedct/425887005	
MONDO:0016858	biolink:Disease	blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome	Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure.	Orphanet:261572|UMLS:CN202201	mondo.json	blepharophimosis types 1 and 2 due to a point mutation	http://purl.obolibrary.org/obo/MONDO_0016858	UMLS:CN202201|Orphanet:261572	ordo_etiological_subtype
MONDO:0016859	biolink:Disease	blepharophimosis-epicanthus inversus-ptosis due to copy number variations	Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement.	Orphanet:261579|UMLS:CN202202	mondo.json	blepharophimosis types 1 and 2 due to copy number variations|blepharophimosis-epicanthus inversus-ptosis due to a CNV	http://purl.obolibrary.org/obo/MONDO_0016859	UMLS:CN202202|Orphanet:261579	ordo_etiological_subtype
MONDO:0016852	biolink:Disease	paternal uniparental disomy of chromosome X		Orphanet:261524	mondo.json	paternal uniparental disomy of chromosome type X|UPD(X)pat	http://purl.obolibrary.org/obo/MONDO_0016852	Orphanet:261524	ordo_malformation_syndrome
MONDO:0016853	biolink:Disease	ring chromosome Y	Ring chromosome Y is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.	SCTID:763407008|Orphanet:261529	mondo.json	Ring chromosome Y syndrome|r(Y)|Ring chromosome type Y	http://purl.obolibrary.org/obo/MONDO_0016853	Orphanet:261529|http://identifiers.org/snomedct/763407008	ordo_malformation_syndrome
MONDO:0016854	biolink:Disease	49,XXXYY syndrome	49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person.	UMLS:CN202197|Orphanet:261534|GARD:0010922	mondo.json	XXXYY syndrome|49, XXXYY syndrome	http://purl.obolibrary.org/obo/MONDO_0016854	UMLS:CN202197|Orphanet:261534	gard_rare|ordo_malformation_syndrome
GO:0048639	biolink:NamedThing	positive regulation of developmental growth	Any process that activates, maintains or increases the rate of developmental growth.		mondo.json	up-regulation of developmental growth|activation of developmental growth|upregulation of developmental growth|up regulation of developmental growth|stimulation of developmental growth	http://purl.obolibrary.org/obo/GO_0048639		
MONDO:0016855	biolink:Disease	Mowat-Wilson syndrome due to monosomy 2q22		UMLS:CN202198|Orphanet:261537	mondo.json	Hirschsprung disease and intellectual disability due to 2q22 microdeletion|Mowat-Wilson syndrome due to monosomy type 2q22|Hirschsprung disease and intellectual disability due to del(2)(q22)|Mowat-Wilson syndrome due to del(2)q(22)|Mowat-Wilson syndrome due to 2q22 microdeletion|Hirschsprung disease and intellectual disability due to monosomy 2q22	http://purl.obolibrary.org/obo/MONDO_0016855	UMLS:CN202198|Orphanet:261537	ordo_etiological_subtype
GO:0048638	biolink:NamedThing	regulation of developmental growth	Any process that modulates the frequency, rate or extent of developmental growth.		mondo.json		http://purl.obolibrary.org/obo/GO_0048638		
PO:0025527	biolink:NamedThing	shoot system development stage	A collective plant organ structure development stage (PO:0025338) that begins with the onset of the plant organ development stage (PO:0025339) and ends with either gametophyte senescent stage (PO:0025343) or sporophyte senescent stage (PO:0007017) or death.	PO_GIT:517	mondo.json		http://purl.obolibrary.org/obo/PO_0025527		
MONDO:0016850	biolink:Disease	atypical Norrie disease due to monosomy Xp11.3	Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.	Orphanet:261501|ICD10CM:H35.5|UMLS:C4518083|SCTID:733626002|UMLS:CN202196	mondo.json	atypical Norrie disease due to Xp11.3 microdeletion|atypical Norrie disease due to del(X)(p11.3)	http://purl.obolibrary.org/obo/MONDO_0016850	UMLS:C4518083|UMLS:CN202196|Orphanet:261501|http://identifiers.org/snomedct/733626002	ordo_malformation_syndrome
SO:0000669	biolink:SequenceFeature	sequence_rearrangement_feature	A feature where a segment of DNA has been rearranged from what it was in the parent cell.		mondo.json	sequence rearrangement feature	http://purl.obolibrary.org/obo/SO_0000669		
MONDO:0016851	biolink:Disease	maternal uniparental disomy of chromosome X		Orphanet:261519	mondo.json	maternal uniparental disomy of chromosome type X|UPD(X)mat	http://purl.obolibrary.org/obo/MONDO_0016851	Orphanet:261519	ordo_malformation_syndrome
MONDO:0002219	biolink:Disease	paraurethral gland neoplasm	A neoplasm (disease) that involves the paraurethral gland.	SCTID:126884005|ICD9:239.5|DOID:2139|UMLS:C0341766	mondo.json	tumor of paraurethral gland|paraurethral gland neoplasm (disease)|neoplasm of paraurethral glands|tumor of the paraurethral gland|neoplasm of paraurethral gland|paraurethral gland tumor	http://purl.obolibrary.org/obo/MONDO_0002219	DOID:2139|http://identifiers.org/snomedct/126884005|UMLS:C0341766	
SO:0000663	biolink:SequenceFeature	tRNA_encoding	A region that can be transcribed into a transfer RNA (tRNA).		mondo.json	tRNA encoding	http://purl.obolibrary.org/obo/SO_0000663		
GO:0048640	biolink:NamedThing	negative regulation of developmental growth	Any process that stops, prevents, or reduces the frequency, rate or extent of developmental growth.		mondo.json	down regulation of developmental growth|inhibition of developmental growth|down-regulation of developmental growth|downregulation of developmental growth	http://purl.obolibrary.org/obo/GO_0048640		
MONDO:0004856	biolink:Disease	rosacea conjunctivitis		SCTID:10128002|UMLS:C0155152|ICD9:372.31|DOID:9709	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004856	UMLS:C0155152|http://identifiers.org/snomedct/10128002|DOID:9709	
HGNC:23247	biolink:NamedThing	DNAL1			mondo.json		http://identifiers.org/hgnc/23247		
MONDO:0004855	biolink:Disease	tenosynovitis	Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced.	UMLS:C0039520|MESH:D013717|DOID:970|EFO:1001435|SCTID:67801009	mondo.json	Inflammation of tendon sheath|inflammation of tendon sheath|Tenosynovitides|tendon sheath inflammation	http://purl.obolibrary.org/obo/MONDO_0004855	http://identifiers.org/snomedct/67801009|UMLS:C0039520|http://identifiers.org/mesh/D013717|DOID:970	
MONDO:0004858	biolink:Disease	occlusion of gallbladder	Blockage of the normal flow of the contents of the gallbladder.	DOID:9714|ICD10CM:K82.0|SCTID:197416005|UMLS:C0156214|ICD9:575.2	mondo.json	obstruction of gallbladder	http://purl.obolibrary.org/obo/MONDO_0004858	UMLS:C0156214|http://identifiers.org/snomedct/197416005|DOID:9714|http://purl.bioontology.org/ontology/ICD10CM/K82.0	
MONDO:0004857	biolink:Disease	tendinitis	Inflammation of a tendon, usually resulting from an overuse injury. It is characterized by swelling of the tendon, tenderness around the inflamed tendon, and pain while moving the affected area of the body.	DOID:971|MESH:D052256|SCTID:34840004|UMLS:C0039503|NCIT:C97141	mondo.json	inflammation of tendon|tendon inflammation|tendonitis	http://purl.obolibrary.org/obo/MONDO_0004857	DOID:971|http://identifiers.org/mesh/D052256|NCIT:C97141|http://identifiers.org/snomedct/34840004|UMLS:C0039503	
HGNC:23246	biolink:NamedThing	MYPN			mondo.json		http://identifiers.org/hgnc/23246		
NCBITaxon:10114	biolink:OrganismalEntity	Rattus		GC_ID:1	mondo.json	rats|rat	http://purl.obolibrary.org/obo/NCBITaxon_10114		
MONDO:0004852	biolink:Disease	gonococcal keratitis		ICD9:098.43|DOID:9697|UMLS:C0153214|SCTID:40149008|ICD10CM:A54.33	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004852	UMLS:C0153214|DOID:9697|http://purl.bioontology.org/ontology/ICD10CM/A54.33|http://identifiers.org/snomedct/40149008	
MONDO:0004851	biolink:Disease	toxic myocarditis		ICD9:422.93|UMLS:C0155691|DOID:9694|SCTID:31993003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004851	UMLS:C0155691|DOID:9694|http://identifiers.org/snomedct/31993003	
NCBITaxon:10116	biolink:OrganismalEntity	Rattus norvegicus		GC_ID:1	mondo.json	rats|brown rat|rat|Norway rat	http://purl.obolibrary.org/obo/NCBITaxon_10116		
MONDO:0004854	biolink:Disease	ophthalmia neonatorum	Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms.	DOID:9699|NCIT:C116815|SCTID:34298002|UMLS:C0029076|MESH:D009878|ICD9:771.6	mondo.json	gonococcal conjunctivitis (neonatorum)|gonococcal ophthalmia neonatorum|neonatal conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0004854	UMLS:C0029076|DOID:9699|http://identifiers.org/snomedct/34298002|http://identifiers.org/mesh/D009878|NCIT:C116815	
MONDO:0004853	biolink:Disease	gonococcal endophthalmia		DOID:9698|UMLS:C0153213|SCTID:111807001|ICD9:098.42	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004853	DOID:9698|UMLS:C0153213|http://identifiers.org/snomedct/111807001	
MONDO:0004850	biolink:Disease	obsolete yellow fever			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004850		
GO:0048646	biolink:NamedThing	anatomical structure formation involved in morphogenesis	The developmental process pertaining to the initial formation of an anatomical structure from unspecified parts. This process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the structural rudiment is recognizable. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome.		mondo.json	formation of an anatomical structure involved in morphogenesis	http://purl.obolibrary.org/obo/GO_0048646		
MONDO:0016838	biolink:Disease	16q24.3 microdeletion syndrome	16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.	UMLS:C4304594|Orphanet:261250|UMLS:CN202174|GARD:0010935|SCTID:719580004	mondo.json	Del(16)(q24.3)|monosomy 16q24.3|chromosome 16q24.3 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016838	UMLS:C4304594|http://identifiers.org/snomedct/719580004|UMLS:CN202174|Orphanet:261250	ordo_malformation_syndrome|gard_rare
CHEBI:169952	biolink:ChemicalSubstance	13-cis-retinoate			mondo.json	13-cis-retinoate|(2Z,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoate	http://purl.obolibrary.org/obo/CHEBI_169952		
MONDO:0016839	biolink:Disease	distal 17p13.3 microdeletion syndrome	Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.	UMLS:CN202175|SCTID:764696007|Orphanet:261257	mondo.json	distal del(17)(p13.3)|distal monosomy 17p13.3	http://purl.obolibrary.org/obo/MONDO_0016839	http://identifiers.org/snomedct/764696007|UMLS:CN202175|Orphanet:261257	ordo_malformation_syndrome
MONDO:0016845	biolink:Disease	21q22.11q22.12 microdeletion syndrome		UMLS:CN202185|Orphanet:261323	mondo.json	Del(21)(q22.11q22.12)|21q22.11-q22.12 microdeletion syndrome|monosomy 21q22.11q22.12|monosomy 21q22.11-q22.12	http://purl.obolibrary.org/obo/MONDO_0016845	Orphanet:261323|UMLS:CN202185	ordo_malformation_syndrome
MONDO:0016846	biolink:Disease	distal 22q11.2 microduplication syndrome	Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported.	UMLS:CN202187|Orphanet:261337|SCTID:764524005	mondo.json	distal trisomy 22q11.2|distal dup(22)(q11.2)	http://purl.obolibrary.org/obo/MONDO_0016846	UMLS:CN202187|http://identifiers.org/snomedct/764524005|Orphanet:261337	ordo_malformation_syndrome
GO:0061620	biolink:NamedThing	glycolytic process through glucose-6-phosphate	The chemical reactions and pathways resulting in the breakdown of a carbohydrate into pyruvate, occurring through a glucose-6-phosphate intermediate, with the concomitant production of a small amount of ATP.		mondo.json		http://purl.obolibrary.org/obo/GO_0061620		
MONDO:0016847	biolink:Disease	trisomy 1q	Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.	SCTID:768927001|Orphanet:261344	mondo.json	Duplication 1q|trisomy type 1q	http://purl.obolibrary.org/obo/MONDO_0016847	http://identifiers.org/snomedct/768927001|Orphanet:261344	ordo_malformation_syndrome
MONDO:0016848	biolink:Disease	juvenile temporal arteritis	Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs.	SCTID:722020006|GARD:0003068|UMLS:C0751547|Orphanet:26137	mondo.json	non-giant cell granulomatous temporal arteritis with eosinophilia|JTA|juvenile polymyalgia rheumatica|juvenile cranial arteritis|JGCA|JPMR|juvenile giant cell arteritis	http://purl.obolibrary.org/obo/MONDO_0016848	UMLS:C0751547|http://identifiers.org/snomedct/722020006|Orphanet:26137	ordo_disease|gard_rare
NCBITaxon:85708	biolink:OrganismalEntity	Porcine circovirus 2		GC_ID:1	mondo.json	Porcine circovirus-2|Porcine circovirus type 2|PCV2|Porcine circovirus Type II	http://purl.obolibrary.org/obo/NCBITaxon_85708		
MONDO:0016841	biolink:Disease	20p12.3 microdeletion syndrome	20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism.	UMLS:C4304539|GARD:0012492|UMLS:CN202180|SCTID:719650004|Orphanet:261295	mondo.json	Del(20)(p12.3)|monosomy 20p12.3	http://purl.obolibrary.org/obo/MONDO_0016841	http://identifiers.org/snomedct/719650004|UMLS:CN202180|Orphanet:261295|UMLS:C4304539	ordo_malformation_syndrome|gard_rare
GO:0061622	biolink:NamedThing	glycolytic process through glucose-1-phosphate	The chemical reactions and pathways through a glucose-1-phosphate intermediate that result in the catabolism of a carbohydrate into pyruvate, with the concomitant production of a small amount of ATP.		mondo.json		http://purl.obolibrary.org/obo/GO_0061622		
MONDO:0016842	biolink:Disease	paternal 20q13.2q13.3 microdeletion syndrome	Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.	UMLS:C4510306|Orphanet:261304|UMLS:CN202182|SCTID:724070005	mondo.json	paternal del(20)(q13.2q13.3)|paternal monosomy 20q13.2-q13.3|paternal 20q13.2-q13.3 microdeletion syndrome|paternal monosomy 20q13.2q13.3	http://purl.obolibrary.org/obo/MONDO_0016842	UMLS:C4510306|http://identifiers.org/snomedct/724070005|Orphanet:261304|UMLS:CN202182	ordo_malformation_syndrome
MONDO:0016843	biolink:Disease	20q13.33 microdeletion syndrome	20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.	UMLS:CN202183|SCTID:733520002|Orphanet:261311|UMLS:C4518823	mondo.json	Del(20)(q13.33)|monosomy 20q13.33	http://purl.obolibrary.org/obo/MONDO_0016843	http://identifiers.org/snomedct/733520002|Orphanet:261311|UMLS:CN202183|UMLS:C4518823	ordo_malformation_syndrome
MONDO:0016844	biolink:Disease	trisomy 20p	Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.	ICD9:758.5|Orphanet:261318|GARD:0005333|MESH:C535371|SCTID:111311004	mondo.json	20p duplication|Duplication 20p|Duplication of 20p|partial trisomy of chromosome 20p|trisomy 20p|chromosome 20p duplication|partial duplication of chromosome 20p|partial trisomy of the short arm of chromosome 20|partial trisomy 20p|dup(20p)|20p trisomy|trisomy type 20p|partial duplication of the short arm of chromosome 20	http://purl.obolibrary.org/obo/MONDO_0016844	Orphanet:261318|http://identifiers.org/snomedct/111311004|http://identifiers.org/mesh/C535371	gard_rare|ordo_malformation_syndrome
GO:0061626	biolink:NamedThing	pharyngeal arch artery morphogenesis	The process in which the anatomical structures of a pharyngeal arch artery is generated and organized. The pharyngeal arch arteries are a series of six paired embryological vascular structures, the development of which give rise to several major arteries, such as the stapedial artery, the middle meningeal artery, the internal carotid artery and the pulmonary artery.		mondo.json	aortic arch artery morphogenesis	http://purl.obolibrary.org/obo/GO_0061626		
MONDO:0016840	biolink:Disease	trisomy 17p	Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.	MESH:C538048|Orphanet:261290|UMLS:C0795865|GARD:0005318|SCTID:717049005	mondo.json	dup(17p)|trisomy type 17p|chromosome 17p duplication|partial trisomy 17p|17p trisomy|17p duplication|Duplication 17p	http://purl.obolibrary.org/obo/MONDO_0016840	http://identifiers.org/snomedct/717049005|http://identifiers.org/mesh/C538048|Orphanet:261290|UMLS:C0795865	ordo_malformation_syndrome
MONDO:0004849	biolink:Disease	pulmonary emphysema	A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing.	SCTID:87433001|EFO:0000464|DOID:9675|ICD9:492|NCIT:C3348|ICD10CM:J43|MESH:D004646|ICD9:492.8|GARD:0011937|MESH:D011656	mondo.json	emphysema|emphysema, pulmonary	http://purl.obolibrary.org/obo/MONDO_0004849	http://identifiers.org/mesh/D011656|http://purl.bioontology.org/ontology/ICD10CM/J43|DOID:9675|http://identifiers.org/mesh/D004646|NCIT:C3348|http://identifiers.org/snomedct/87433001	
MONDO:0004848	biolink:Disease	ulcerative stomatitis	Inflammation of the mouth mucosa associated with the presence of ulcers.	NCIT:C35039|UMLS:C0038367|MESH:D005892|DOID:9673|SCTID:450005|ICD9:528.00	mondo.json	ulcerative stomatitis	http://purl.obolibrary.org/obo/MONDO_0004848	UMLS:C0038367|DOID:9673|http://identifiers.org/snomedct/450005|NCIT:C35039	
MONDO:0002204	biolink:Disease	transient arthritis	Arthritis that is not permanent.	ICD9:716.4|SCTID:6011000119108|DOID:2092|UMLS:C0152083|ICD9:716.40|UMLS:C3887596	mondo.json	transient arthropathy	http://purl.obolibrary.org/obo/MONDO_0002204	DOID:2092|http://identifiers.org/snomedct/6011000119108|UMLS:C0152083|UMLS:C3887596	
MONDO:0004867	biolink:Disease	upper respiratory tract disorder	A disease involving the upper respiratory tract.	ICD9:478.1|ICD9:478.19|DOID:974|ICD9:478.9|SCTID:201060008	mondo.json	disease of upper respiratory tract|upper respiratory tract disease or disorder|disorder of upper respiratory tract|upper respiratory tract disease|disease or disorder of upper respiratory tract	http://purl.obolibrary.org/obo/MONDO_0004867	http://identifiers.org/snomedct/201060008|DOID:974	
MONDO:0004866	biolink:Disease	eustachian tube disorder	A disease involving the pharyngotympanic tube.	ICD10CM:H68|UMLS:C0271468|ICD9:381.8|ICD9:381.89|DOID:9739|SCTID:69494008|ICD9:381.9	mondo.json	disease or disorder of pharyngotympanic tube|eustachian tube disorder|pharyngotympanic tube disease or disorder|disease of eustachian tube|disease of pharyngotympanic tube|disorder of eustachian tube|disorder of pharyngotympanic tube|auditory tube disorder|pharyngotympanic tube disease	http://purl.obolibrary.org/obo/MONDO_0004866	http://purl.bioontology.org/ontology/ICD10CM/H68|DOID:9739|UMLS:C0271468|http://identifiers.org/snomedct/69494008	
MONDO:0002205	biolink:Disease	vulvar melanoma	A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria.	NCIT:C40329|SCTID:254896002|DOID:2093|HP:0030418|UMLS:C0241989	mondo.json	mammalian vulva melanoma (disease)|vulvar melanoma|mammalian vulva melanoma|malignant melanoma of vulva|vulvar melanoma (disease)|melanoma (disease) of mammalian vulva	http://purl.obolibrary.org/obo/MONDO_0002205	DOID:2093|http://identifiers.org/snomedct/254896002|NCIT:C40329|UMLS:C0241989	
MONDO:0004869	biolink:Disease	pelvic varices	A varicose disease that involves the pelvic region of trunk.	ICD10CM:I86.2|ICD9:456.5|DOID:9742|SCTID:17406005|UMLS:C0155795	mondo.json	varicose disease of pelvic region of trunk|pelvic region of trunk varicose disease	http://purl.obolibrary.org/obo/MONDO_0004869	http://purl.bioontology.org/ontology/ICD10CM/I86.2|UMLS:C0155795|DOID:9742|http://identifiers.org/snomedct/17406005	
MONDO:0002206	biolink:Disease	sweat gland cancer	A malignant neoplasm that affects the sweat glands.	UMLS:C1321904|DOID:2095|NCIT:C4810	mondo.json	sweat gland neoplasms, malignant|malignant tumor of the sweat gland|sweat gland cancer|malignant neoplasm of sweat gland|malignant neoplasm of the sweat gland|malignant sweat gland neoplasm|cancer of sweat gland|malignant tumor of sweat gland	http://purl.obolibrary.org/obo/MONDO_0002206	DOID:2095|NCIT:C4810|UMLS:C1321904	
MONDO:0004868	biolink:Disease	biliary tract disorder	A disease involving the biliary tree.	DOID:9741|ICD9:576.9|SCTID:105997008|MESH:D001660	mondo.json	disease or disorder of biliary tree|disease of biliary tree|biliary tree disease|biliary tree disease or disorder|disorder of biliary tree	http://purl.obolibrary.org/obo/MONDO_0004868	DOID:9741|http://identifiers.org/mesh/D001660|http://identifiers.org/snomedct/105997008	
MONDO:0002207	biolink:Disease	vulval Paget disease	An uncommon intraepithelial malignant neoplasm of eccrine or apocrine origin, arising from the vulva. It usually affects post-menopausal women. In approximately 10-20% of the cases there is an associated anorectal, or urothelial carcinoma or a skin appendage adenocarcinoma identified. It presents as a red, eczematous lesion. Microscopically, it is characterized by the presence of the typical Paget cells which are large, round cells with abundant cytoplasm and prominent nuclei.	DOID:2097|SCTID:254898001|UMLS:C1275217|NCIT:C4027|ICD9:233.39	mondo.json	vulva Paget's disease|Paget's disease of the vulva|Paget's disease of vulva|vulvar Paget's disease|vulval Paget disease|Paget disease of the vulva|mammalian vulva Paget disease|vulval Paget's disease	http://purl.obolibrary.org/obo/MONDO_0002207	DOID:2097|http://identifiers.org/snomedct/254898001|UMLS:C1275217|NCIT:C4027	
MONDO:0004863	biolink:Disease	purulent endophthalmitis		UMLS:C0259800|SCTID:41720003|ICD9:360.0|ICD9:360.00|ICD10CM:H44.0|DOID:9724	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004863	UMLS:C0259800|http://identifiers.org/snomedct/41720003|DOID:9724|http://purl.bioontology.org/ontology/ICD10CM/H44.0	
MONDO:0002200	biolink:Disease	eccrine mixed tumor of skin	A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures.	SCTID:254720009|NCIT:C4474|EFO:1000385|DOID:2079|UMLS:C0346026	mondo.json	benign mixed tumor of the skin (chondroid syringoma)|eccrine mixed tumor|chondroid syringoma|eccrine sweat gland mixed neoplasm|mixed eccrine neoplasm of the skin|mixed tumor of the skin (chondroid syringoma)|benign mixed tumor of skin|benign mixed tumor of the skin|eccrine mixed tumor (morphologic abnormality)|benign mixed tumor of skin (chondroid syringoma)	http://purl.obolibrary.org/obo/MONDO_0002200	NCIT:C4474|UMLS:C0346026|http://identifiers.org/snomedct/254720009|DOID:2079	
UBERON:0035074	biolink:AnatomicalEntity	duct of apocrine sweat gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035074		
MONDO:0002201	biolink:Disease	vulvar trichoepithelioma	A benign neoplasm that arises from the vulva and is characterized by the presence of nests of monomorphic basaloid cells forming small cysts that contain keratin.	NCIT:C40314|UMLS:C1520100|DOID:2080	mondo.json	trichoblastoma of mammalian vulva|vulvar trichoblastoma|vulvar trichoepithelioma|mammalian vulva trichoblastoma	http://purl.obolibrary.org/obo/MONDO_0002201	UMLS:C1520100|NCIT:C40314|DOID:2080	
MONDO:0004862	biolink:Disease	vitreous abscess		ICD9:360.04|UMLS:C0042904|SCTID:48142003|DOID:9723	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004862	DOID:9723|http://identifiers.org/snomedct/48142003|UMLS:C0042904	
UBERON:0035073	biolink:AnatomicalEntity	duct of eccrine sweat gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035073		
MONDO:0002202	biolink:Disease	outlet dysfunction constipation		DOID:2088|ICD9:564.02|ICD10CM:K59.02	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002202	http://purl.bioontology.org/ontology/ICD10CM/K59.02|DOID:2088	
MONDO:0004865	biolink:Disease	blue drum syndrome	A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color.	SCTID:52353000|ICD9:381.02|DOID:9736|UMLS:C0395863	mondo.json	acute non-suppurative otitis media - mucoid|blue drum syndrome|acute mucoid otitis media	http://purl.obolibrary.org/obo/MONDO_0004865	UMLS:C0395863|DOID:9736|http://identifiers.org/snomedct/52353000	
MONDO:0002203	biolink:Disease	constipation disorder	Irregular and infrequent or difficult evacuation of the bowels.	DOID:2089|ICD9:564.00|NCIT:C37930|ICD10CM:K59.0|MESH:D003248|SCTID:14760008|ICD9:564.0|HP:0002019	mondo.json	constipation|colonic inertia|Dyschezia	http://purl.obolibrary.org/obo/MONDO_0002203	DOID:2089|http://identifiers.org/mesh/D003248|NCIT:C37930|http://identifiers.org/snomedct/14760008|http://purl.bioontology.org/ontology/ICD10CM/K59.0	
MONDO:0004864	biolink:Disease	acute allergic mucoid otitis media	A blue drum syndrome caused by an allergen.	SCTID:8326008|ICD9:381.05|UMLS:C0155419|DOID:9735	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004864	UMLS:C0155419|DOID:9735|http://identifiers.org/snomedct/8326008	
NCBITaxon:10128	biolink:OrganismalEntity	Apodemus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_10128		
UBERON:0035075	biolink:AnatomicalEntity	thymus subunit			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035075		
UBERON:0035078	biolink:AnatomicalEntity	parotid gland interlobular duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035078		
MONDO:0004861	biolink:Disease	ophthalmia nodosa		UMLS:C0154775|ICD9:360.14|SCTID:12371008|DOID:9722	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004861	UMLS:C0154775|http://identifiers.org/snomedct/12371008|DOID:9722	
MONDO:0041850	biolink:Disease	pneumonia caused by gram negative bacteria		SCTID:430395005|UMLS:C0854248	mondo.json	pneumonia due to gram negative bacteria|pneumonia caused by gram negative bacteria|pneumonia due to gram-negative bacteria|pneumonia caused by gram-negative bacteria|gram negative pneumonia	http://purl.obolibrary.org/obo/MONDO_0041850	http://identifiers.org/snomedct/430395005|UMLS:C0854248	
MONDO:0004860	biolink:Disease	vitreous disorder	A disease involving the vitreous humor.	DOID:9720|ICD9:379.24	mondo.json	vitreous humor disease or disorder|disorder of vitreous humor|disease of vitreous humor|disease or disorder of vitreous humor|vitreous humor disease	http://purl.obolibrary.org/obo/MONDO_0004860	DOID:9720	
MONDO:0016827	biolink:Disease	myopathy-growth delay-intellectual disability-hypospadias syndrome		Orphanet:2601|UMLS:CN230273	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016827	UMLS:CN230273|Orphanet:2601	ordo_malformation_syndrome
MONDO:0016828	biolink:Disease	autosomal recessive sideroblastic anemia	Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.	OMIM:182170|Orphanet:260305|UMLS:C4274077|SCTID:717050005	mondo.json	congenital sideroblastic anemia|ARSA|sideroblastic anemia, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016828	http://identifiers.org/snomedct/717050005|UMLS:C4274077|Orphanet:260305	ordo_disease
MONDO:0016829	biolink:Disease	familial visceral myopathy	A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.	SCTID:63684002|UMLS:CN202146|GARD:0003443|UMLS:C1835084|UMLS:C0266833|ICD9:359.89|Orphanet:2604	mondo.json	hereditary hollow visceral myopathy|familial hollow visceral myopathy|megaduodenum and/or megacystis|pseudoobstruction idiopathic intestinal|visceral myopathy familial	http://purl.obolibrary.org/obo/MONDO_0016829	Orphanet:2604|UMLS:C0266833|http://identifiers.org/snomedct/63684002|UMLS:C1835084|UMLS:CN202146	ordo_disease
MONDO:0016834	biolink:Disease	16p11.2p12.2 microduplication syndrome	16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behaviour, behavioural problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.	UMLS:CN202168|SCTID:733518000|DECIPHER:78|Orphanet:261204|DECIPHER:96|UMLS:C4518821	mondo.json	trisomy 16p11.2p12.2|16p11.2-p12.2 microduplication syndrome|16p11.2 microduplication syndrome|dup(16)(p11.2p12.2)	http://purl.obolibrary.org/obo/MONDO_0016834	Orphanet:261204|UMLS:CN202168|UMLS:C4518821|http://identifiers.org/snomedct/733518000	ordo_malformation_syndrome
MONDO:0016835	biolink:Disease	14q11.2 microduplication syndrome	14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.	Orphanet:261229|UMLS:CN202171	mondo.json	trisomy 14q11.2|dup(14)(q11.2)	http://purl.obolibrary.org/obo/MONDO_0016835	Orphanet:261229|UMLS:CN202171	ordo_malformation_syndrome
MONDO:0016836	biolink:Disease	16p13.11 microdeletion syndrome	16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.	DECIPHER:79|SCTID:719577000|UMLS:CN202172|Orphanet:261236|UMLS:C4304596	mondo.json	monosomy 16p13.11|Del(16)(p13.11)|16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus)	http://purl.obolibrary.org/obo/MONDO_0016836	UMLS:C4304596|Orphanet:261236|UMLS:CN202172|http://identifiers.org/snomedct/719577000	ordo_malformation_syndrome
HGNC:11278	biolink:NamedThing	SPTLC2			mondo.json		http://identifiers.org/hgnc/11278		
MONDO:0016837	biolink:Disease	16p13.11 microduplication syndrome	16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.	UMLS:C4304595|DECIPHER:80|SCTID:719578005|UMLS:CN202173|GARD:0013392|Orphanet:261243	mondo.json	dup(16)(p13.11)|trisomy 16p13.11|16p13.11 recurrent microduplication (neurocognitive disorder susceptibility locus)	http://purl.obolibrary.org/obo/MONDO_0016837	UMLS:C4304595|Orphanet:261243|UMLS:CN202173|http://identifiers.org/snomedct/719578005	gard_rare|ordo_malformation_syndrome
HGNC:11277	biolink:NamedThing	SPTLC1			mondo.json		http://identifiers.org/hgnc/11277		
MONDO:0016830	biolink:Disease	Emery-Dreifuss muscular dystrophy	Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.	SCTID:111508004|MESH:D020389|Orphanet:261|OMIMPS:310300|DOID:11726|GARD:0006329|NCIT:C84685|UMLS:C0410189	mondo.json	Humeroperoneal neuromuscular disease, (formerly)|scapuloperoneal syndrome, X-linked (formerly)|Emery-Dreifuss muscular dystrophy|EDMD	http://purl.obolibrary.org/obo/MONDO_0016830	DOID:11726|http://identifiers.org/snomedct/111508004|NCIT:C84685|http://identifiers.org/mesh/D020389|https://omim.org/phenotypicSeries/PS310300|UMLS:C0410189|Orphanet:261	ordo_disease
MONDO:0016831	biolink:Disease	linear verrucous nevus syndrome		UMLS:CN202159|Orphanet:2611|GARD:0003259	mondo.json	linear hamartoma syndrome	http://purl.obolibrary.org/obo/MONDO_0016831	UMLS:CN202159|Orphanet:2611	ordo_disease
MONDO:0016832	biolink:Disease	distal 7q11.23 microduplication syndrome	Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.	UMLS:CN202160|Orphanet:261102	mondo.json	Dup7q11.23D|distal dup(7)(q11.23)|distal trisomy 7q11.23	http://purl.obolibrary.org/obo/MONDO_0016832	UMLS:CN202160|Orphanet:261102	ordo_malformation_syndrome
MONDO:0016833	biolink:Disease	14q12 microdeletion syndrome	14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.	UMLS:C4305240|UMLS:CN202163|SCTID:719574007|Orphanet:261144	mondo.json	monosomy 14q12|Del(14)(q12)	http://purl.obolibrary.org/obo/MONDO_0016833	http://identifiers.org/snomedct/719574007|Orphanet:261144|UMLS:CN202163|UMLS:C4305240	ordo_malformation_syndrome
GO:0061615	biolink:NamedThing	glycolytic process through fructose-6-phosphate	The chemical reactions and pathways resulting in the breakdown of a monosaccharide into pyruvate, occurring through a fructose-6-phosphate intermediate, with the concomitant production of ATP and NADH.		mondo.json	glycolysis through fructose-6-phosphate	http://purl.obolibrary.org/obo/GO_0061615		
HGNC:11272	biolink:NamedThing	SPTA1			mondo.json		http://identifiers.org/hgnc/11272		
HGNC:11270	biolink:NamedThing	SPRY2			mondo.json		http://identifiers.org/hgnc/11270		
NCBITaxon:36734	biolink:OrganismalEntity	Unikaryonidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_36734		
HGNC:11276	biolink:NamedThing	SPTBN2			mondo.json		http://identifiers.org/hgnc/11276		
MONDO:0004859	biolink:Disease	hydrops of gallbladder		ICD9:575.3|SCTID:47312008|ICD10CM:K82.1|DOID:9717|UMLS:C0152445	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004859	DOID:9717|http://purl.bioontology.org/ontology/ICD10CM/K82.1|UMLS:C0152445|http://identifiers.org/snomedct/47312008	
HGNC:11274	biolink:NamedThing	SPTB			mondo.json		http://identifiers.org/hgnc/11274		
HGNC:11273	biolink:NamedThing	SPTAN1			mondo.json		http://identifiers.org/hgnc/11273		
MONDO:0002259	biolink:Disease	gonadal disorder	A non-neoplastic or neoplastic disorder that affects the testis or the ovary.	NCIT:C26786|MESH:D006058|DOID:2277|UMLS:C0018050	mondo.json	gonadal disorder|disease of gonad|gonadal disorders|gonad disease or disorder|disorder of gonad|disorder of gonads|gonad disease|disease or disorder of gonad	http://purl.obolibrary.org/obo/MONDO_0002259	http://identifiers.org/mesh/D006058|DOID:2277|UMLS:C0018050|NCIT:C26786	
GO:1903829	biolink:NamedThing	positive regulation of protein localization	Any process that activates or increases the frequency, rate or extent of a protein localization.		mondo.json	upregulation of cellular protein localization|up-regulation of cellular protein localisation|up regulation of cellular protein localisation|positive regulation of cellular protein localisation|up-regulation of cellular protein localization|upregulation of cellular protein localisation|up regulation of cellular protein localization|positive regulation of cellular protein localization	http://purl.obolibrary.org/obo/GO_1903829		
GO:1903828	biolink:NamedThing	negative regulation of protein localization	Any process that stops, prevents or reduces the frequency, rate or extent of a protein localization.		mondo.json	downregulation of cellular protein localisation|inhibition of cellular protein localisation|negative regulation of cellular protein localization|down-regulation of cellular protein localization|down regulation of cellular protein localization|inhibition of cellular protein localization|downregulation of cellular protein localization|down-regulation of cellular protein localisation|negative regulation of cellular protein localisation|down regulation of cellular protein localisation	http://purl.obolibrary.org/obo/GO_1903828		
GO:1903827	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_1903827		
MONDO:0002255	biolink:Disease	hypertrophic elongation of cervix		UMLS:C0020561|SCTID:198353000|ICD9:622.6|DOID:2251	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002255	DOID:2251|http://identifiers.org/snomedct/198353000|UMLS:C0020561	
MONDO:0002256	biolink:Disease	cervix disorder	A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma.	SCTID:63339007|DOID:2253|NCIT:C40241|MESH:D002577|UMLS:C0007867	mondo.json	disease of uterine cervix|disease or disorder of uterine cervix|uterine cervix disease|cervical disorder|uterine cervix disease or disorder|disorder of uterine cervix	http://purl.obolibrary.org/obo/MONDO_0002256	NCIT:C40241|http://identifiers.org/mesh/D002577|http://identifiers.org/snomedct/63339007|DOID:2253|UMLS:C0007867	
MONDO:0002257	biolink:Disease	ankylosis	Fixation and immobility of a joint.	ICD9:718.50|SCTID:111227009|DOID:227|HP:0031013|MESH:D000844|ICD9:718.5	mondo.json	ankylosis|ankylosis (disease)	http://purl.obolibrary.org/obo/MONDO_0002257	DOID:227|http://identifiers.org/snomedct/111227009|http://identifiers.org/mesh/D000844	
GO:1903825	biolink:NamedThing	organic acid transmembrane transport	The process in which an organic acid is transported across a membrane.		mondo.json		http://purl.obolibrary.org/obo/GO_1903825		
MONDO:0002258	biolink:Disease	pharyngitis	Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma.	ICD9:462|ICD9:472|NCIT:C26851|ICD9:478.20|SCTID:405737000|UMLS:C0031350|DOID:2275|MESH:D010612	mondo.json	acute pharyngitis|chronic pharyngitis|pharyngitis - acute|persistent sore throat|Sore throat|chronic sore throat|chronic pharyngitis and nasopharyngitis|pharyngeal disorder|inflamed throat|acute sore throat|chronic pharyn/nasopharyngitis|Sore throat - chronic|inflammation of throat|throat inflammation|pharyngeal disease	http://purl.obolibrary.org/obo/MONDO_0002258	UMLS:C0031350|http://identifiers.org/snomedct/405737000|DOID:2275|http://identifiers.org/mesh/D010612|NCIT:C26851	
HGNC:23228	biolink:NamedThing	CPAMD8			mondo.json		http://identifiers.org/hgnc/23228		
MONDO:0002251	biolink:Disease	hepatitis	An active inflammatory process affecting the liver for more than six months. Causes include viral infections, autoimmune disorders, drugs, and metabolic disorders.	SCTID:197268000|DOID:2237|ICD9:571.41|ICD9:571.40|NCIT:C3095|EFO:0008496|MESH:D006505|ICD9:570|ICD9:571.4	mondo.json	chronic hepatitis|acute/subac. necrosis of liver|acute hepatitis|inflammation of liver|Hepatitides|chronic persistent hepatitis|Hepatitis|hepatitis|liver inflammation|animal hepatitis|acute and subacute liver necrosis	http://purl.obolibrary.org/obo/MONDO_0002251	DOID:2237|http://identifiers.org/mesh/D006505|NCIT:C3095|http://identifiers.org/snomedct/197268000	
MONDO:0002252	biolink:Disease	granulomatous hepatitis	Hepatitis that is characterized by the presence of granulomas.	NCIT:C27015|UMLS:C0235369|SCTID:86514004|DOID:2239	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002252	UMLS:C0235369|NCIT:C27015|DOID:2239|http://identifiers.org/snomedct/86514004	
MONDO:0002253	biolink:Disease	spondylosis	A degenerative spinal disease that can involve any part of the vertebra, the intervertebral disk, and the surrounding soft tissue.	ICD9:721.3|ICD9:721.9|MESH:D055009|DOID:2247|UMLS:C0038019|ICD10CM:M47|SCTID:8847002|SCTID:48210000	mondo.json	spondylogenic compression of thoracic spinal cord|spondylogenic compression of lumbar spinal cord|lumbosacral spondylosis without myelopathy|spondylosis with myelopathy|thoracic or lumbar spondylosis with myelopathy|lumbar spondylosis with myelopathy	http://purl.obolibrary.org/obo/MONDO_0002253	http://identifiers.org/snomedct/48210000|http://identifiers.org/mesh/D055009|UMLS:C0038019|DOID:2247|http://purl.bioontology.org/ontology/ICD10CM/M47	
GO:0046005	biolink:NamedThing	positive regulation of circadian sleep/wake cycle, REM sleep	Any process that activates or increases the duration or quality of rapid eye movement (REM) sleep.		mondo.json	up-regulation of circadian sleep/wake cycle, REM sleep|up regulation of circadian sleep/wake cycle, REM sleep|activation of circadian sleep/wake cycle, REM sleep|stimulation of circadian sleep/wake cycle, REM sleep|upregulation of circadian sleep/wake cycle, REM sleep|positive regulation of REM sleep	http://purl.obolibrary.org/obo/GO_0046005		
MONDO:0002254	biolink:Disease	syndromic disease	A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition.	OGMS:0000086|UMLS:C0039082|DOID:225|NCIT:C28193|MESH:D013577	mondo.json	syndromic disease or disorder|clusters, symptom|cluster, symptom|symptom cluster|syndromes|symptom clusters|syndrome associated with disease or disorder|syndromic disease|syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	DOID:225|http://identifiers.org/mesh/D013577|NCIT:C28193|UMLS:C0039082	harrisons_view
GO:0048667	biolink:NamedThing	cell morphogenesis involved in neuron differentiation	The process in which the structures of a neuron are generated and organized. This process occurs while the initially relatively unspecialized cell is acquiring the specialized features of a neuron.		mondo.json	neuron morphogenesis involved in differentiation	http://purl.obolibrary.org/obo/GO_0048667		
GO:0048666	biolink:NamedThing	neuron development	The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0048666		
UBERON:0035005	biolink:AnatomicalEntity	preputial swelling of male			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035005		
UBERON:0035004	biolink:AnatomicalEntity	preputial swelling			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035004		
MONDO:0002250	biolink:Disease	basilar artery insufficiency	A syndrome which occurs as a result of the occlusion of the basilar artery. It may be caused by atherosclerosis, embolism or hemorrhage. Clinical signs include dizziness, headache, vomiting, hemiparesis or hemiplegia, dysarthria, dysphagia, blurred vision and loss of consciousness. The clinical course is variable and is dependent upon the extent of the occlusion and the location of the clot along the basilar artery which determines the resultant neurologic impairment. Prognosis is dismal in cases where a complete occlusion occurs with rapid deterioration of neurological function.	UMLS:C0004812|MESH:D014715|SCTID:64009001|DOID:223|ICD9:435.0|NCIT:C34413	mondo.json	basilar artery syndrome	http://purl.obolibrary.org/obo/MONDO_0002250	http://identifiers.org/snomedct/64009001|DOID:223|NCIT:C34413|UMLS:C0004812	
CL:1001589	biolink:Cell	duodenum glandular cell	Glandular cell of duodenal epithelium. Example: Enterocytes, Goblet cells, enteroendocrine cells; Paneth cells; M cells; Brunner's gland cell.	CALOHA:TS-1275	mondo.json	duodenum glandular cells	http://purl.obolibrary.org/obo/CL_1001589		
UBERON:0035006	biolink:AnatomicalEntity	preputial swelling of female			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035006		
MONDO:0014248	biolink:Disease	autism spectrum disorder - epilepsy - arthrogryposis syndrome	SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).	OMIM:615553|UMLS:C3809910|Orphanet:370943	mondo.json	AMRS|arthrogryposis, mental retardation, and seizures|arthrogryposis, impaired intellectual development, and seizures|SLC35A3-CDG|arthrogryposis, intellectual disability, and seizures	http://purl.obolibrary.org/obo/MONDO_0014248	Orphanet:370943|https://omim.org/entry/615553|UMLS:C3809910	ordo_disease
CL:1001588	biolink:Cell	colon glandular cell	Glandular cell of colon epithelium. Example: Goblet cells; enterocytes or absorptive cells; enteroendocrine and M cells.	CALOHA:TS-1274	mondo.json	colon glandular cells	http://purl.obolibrary.org/obo/CL_1001588		
HGNC:11247	biolink:NamedThing	SPINT2			mondo.json		http://identifiers.org/hgnc/11247		
MONDO:0014247	biolink:Disease	familial episodic pain syndrome with predominantly lower limb involvement	A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age.	Orphanet:391392|OMIM:615552|NCIT:C125390|UMLS:C3809899	mondo.json	episodic pain syndrome, familial, 3|FEPS3|episodic pain syndrome, familial, type 3	http://purl.obolibrary.org/obo/MONDO_0014247	Orphanet:391392|https://omim.org/entry/615552|NCIT:C125390|UMLS:C3809899	ordo_clinical_subtype
CL:1001587	biolink:Cell	uterine cervix glandular cell	Glandular cell of uterine cervix epithelium.	CALOHA:TS-1273	mondo.json	cervix, uterine glandular cell|cervix, uterine glandular cells|cervix glandular cell	http://purl.obolibrary.org/obo/CL_1001587		
GO:0034097	biolink:NamedThing	response to cytokine	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus.		mondo.json	response to cytokine stimulus	http://purl.obolibrary.org/obo/GO_0034097		
CL:1001586	biolink:Cell	mammary gland glandular cell	Glandular cell of mammary epithelium. Example: glandular cells of large and intermediate ducts, glandular cells in terminal ducts.	CALOHA:TS-1272	mondo.json	breast glandular cell|breast glandular cells|mammary glandular cell	http://purl.obolibrary.org/obo/CL_1001586		
MONDO:0014246	biolink:Disease	episodic pain syndrome, familial, 2	Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene.	UMLS:C3809893|DOID:0111730|OMIM:615551	mondo.json	FEPS2|SCN10A familial episodic pain syndrome|familial episodic pain syndrome caused by mutation in SCN10A|episodic pain syndrome, familial, 2|episodic pain syndrome, familial, type 2	http://purl.obolibrary.org/obo/MONDO_0014246	DOID:0111730|https://omim.org/entry/615551|UMLS:C3809893	
MONDO:0014245	biolink:Disease	Diamond-Blackfan anemia 12	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene.	UMLS:C3809888|OMIM:615550	mondo.json	DBA12|Diamond-Blackfan Anemia type 12|Diamond-Blackfan anemia 12|RPL15 Diamond-Blackfan anemia|Diamond-Blackfan anemia caused by mutation in RPL15	http://purl.obolibrary.org/obo/MONDO_0014245	https://omim.org/entry/615550|UMLS:C3809888	
CL:1001585	biolink:Cell	appendix glandular cell	Glandular cell of appendix epithelium. Example: Goblet cells; enterocytes or absorptive cells; enteroendocrine and M cells.	CALOHA:TS-1271	mondo.json	cecal appendix glandular cell|caecal appendix glandular cell|appendix glandular cells|vermiform appendix glandular cell	http://purl.obolibrary.org/obo/CL_1001585		
HGNC:11244	biolink:NamedThing	SPINK1			mondo.json		http://identifiers.org/hgnc/11244		
CL:1001582	biolink:Cell	lateral ventricle neuron	Neuron of lateral ventricle.	CALOHA:TS-1261	mondo.json	lateral ventricle neuronal cell|lateral ventricle neural cell|lateral ventricle neuronal cells	http://purl.obolibrary.org/obo/CL_1001582		
MONDO:0014249	biolink:Disease	multiple fibroadenoma of the breast	Mammary polyadenomatosis is characterised by the presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns.	Orphanet:50920|UMLS:C3809918|OMIM:615554	mondo.json	multiple fibroadenomas of the breast|MFAB|mammary polyadenomatosis	http://purl.obolibrary.org/obo/MONDO_0014249	Orphanet:50920|https://omim.org/entry/615554|UMLS:C3809918	ordo_disease
CL:1001581	biolink:Cell	lateral ventricle glial cell	Glial cell of lateral ventricle.	CALOHA:TS-1258	mondo.json	lateral ventricle glial cells	http://purl.obolibrary.org/obo/CL_1001581		
CL:1001580	biolink:Cell	hippocampus glial cell	Glial cell of hippocampus.	CALOHA:TS-1257	mondo.json	hippocampus glial cells|hippocampus neuroglial cell|hippocampal glial cell	http://purl.obolibrary.org/obo/CL_1001580		
MONDO:0014240	biolink:Disease	periventricular nodular heterotopia 6	Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene.	UMLS:C3809872|OMIM:615544	mondo.json	periventricular nodular heterotopia type 6|ERMARD periventricular nodular heterotopia|periventricular nodular heterotopia 6|periventricular nodular heterotopia caused by mutation in ERMARD|PVNH6	http://purl.obolibrary.org/obo/MONDO_0014240	https://omim.org/entry/615544|UMLS:C3809872	
MONDO:0014244	biolink:Disease	hereditary sensory and autonomic neuropathy type 7	Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.'	UMLS:C3809882|DOID:0070149|GARD:12723|NCIT:C125388|GARD:0012732|Orphanet:391397|OMIM:615548	mondo.json	insensitivity to pain, congenital, with gastrointestinal dysfunction and hyperhidrosis|CIP with hyperhidrosis and gastrointestinal dysfunction|congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction|HSAN with hyperhidrosis and gastrointestinal dysfunction|SCN11A autosomal dominant hereditary sensory and autonomic neuropathy|neuropathy, hereditary sensory and autonomic, type VII|neuropathy, hereditary sensory and autonomic, type 7|hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction|HSAN VII|hereditary sensory and autonomic neuropathy type VII|HSAN7|HSAN 7|autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in SCN11A	http://purl.obolibrary.org/obo/MONDO_0014244	Orphanet:391397|https://omim.org/entry/615548|UMLS:C3809882|NCIT:C125388|DOID:0070149	ordo_disease|gard_rare
MONDO:0014243	biolink:Disease	Schaaf-Yang syndrome		UMLS:C3809877|GARD:0013316|OMIM:208080|OMIM:615547|GARD:0010087|MESH:C535385|Orphanet:398069|UMLS:C1859724	mondo.json	Prader-Willi syndrome due to point mutation|MAGEL2-related Prader-Willi-like syndrome|Chitayat-Hall syndrome|Schaaf-Yang syndrome|Prader-Willi-like syndrome|SHFYNG|distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies|arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies|PWS due to a point mutation|MAGEL2-related PWLS|arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies	http://purl.obolibrary.org/obo/MONDO_0014243	https://omim.org/entry/208080|Orphanet:398069|http://identifiers.org/mesh/C535385|https://omim.org/entry/615547|UMLS:C3809877|UMLS:C1859724	ordo_etiological_subtype
MONDO:0014242	biolink:Disease	van Maldergem syndrome 2	Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene.	UMLS:C3809875|DOID:0080586|OMIM:615546	mondo.json	VAN Maldergem syndrome 2|van Maldergem syndrome 2|van Maldergem syndrome caused by mutation in FAT4|FAT4 van Maldergem syndrome|VMLDS2|Van Maldergem syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0014242	DOID:0080586|https://omim.org/entry/615546|UMLS:C3809875	
MONDO:0014241	biolink:Disease	leukemia, acute lymphoblastic, susceptibility to, 3	Any precursor B-cell acute lymphoblastic leukemia in which the cause of the disease is a mutation in the PAX5 gene.	UMLS:C3809874|OMIM:615545	mondo.json	leukemia, acute lymphoblastic, susceptibility to, type 3|susceptibility to acute lymphoblastic leukemia 3|precursor B-cell acute lymphoblastic leukemia caused by mutation in PAX5|ALL3|leukemia, acute lymphoblastic, susceptibility to, 3|PAX5 precursor B-cell acute lymphoblastic leukemia	http://purl.obolibrary.org/obo/MONDO_0014241	https://omim.org/entry/615545|UMLS:C3809874	predisposition
HGNC:25897	biolink:NamedThing	MFSD2A			mondo.json		http://identifiers.org/hgnc/25897		
HGNC:25896	biolink:NamedThing	ORAI1			mondo.json		http://identifiers.org/hgnc/25896		
MONDO:0002266	biolink:Disease	malt worker's lung	An extrinsic allergic alveolitis caused by infection with Aspergillus.	DOID:2314|UMLS:C0155888|ICD9:495.4|SCTID:25897000	mondo.json	Aspergillus caused extrinsic allergic alveolitis|Aspergillus extrinsic allergic alveolitis|Malt workers' lung|malt worker lung|Malt-workers' lung|alveolitis due to aspergillus clavatus|malt workers lung	http://purl.obolibrary.org/obo/MONDO_0002266	http://identifiers.org/snomedct/25897000|DOID:2314|UMLS:C0155888	
MONDO:0002267	biolink:Disease	obstructive lung disease	Any disorder marked by obstruction of conducting airways of the lung. airway obstruction may be acute, chronic, intermittent, or persistent.	DOID:2320|UMLS:C0600260|MESH:D008173	mondo.json	respiratory airway obstruction	http://purl.obolibrary.org/obo/MONDO_0002267	http://identifiers.org/mesh/D008173|DOID:2320|UMLS:C0600260	
MONDO:0002268	biolink:Disease	dyspepsia	An uncomfortable, often painful feeling in the stomach, resulting from impaired digestion. Symptoms include burning stomach pain, bloating, heartburn, nausea, and vomiting. Causes include gastritis, gastric ulcer, gastroesophageal reflux disease, pancreatic disease, and gallbladder disease.	DOID:2321|NCIT:C26756|EFO:0008533|MESH:D004415	mondo.json	indigestion|dyspepsia, indigestion	http://purl.obolibrary.org/obo/MONDO_0002268	NCIT:C26756|http://identifiers.org/mesh/D004415	
MONDO:0002269	biolink:Disease	gastroenteritis	An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting.	DOID:2326|EFO:1001463|MESH:D005759|NCIT:C34632|ICD9:558.9|UMLS:C0017160|SCTID:25374005	mondo.json	intestine inflammation|inflammation of intestine|cholera morbus|infectious colitis, enteritis and gastroenteritis	http://purl.obolibrary.org/obo/MONDO_0002269	http://identifiers.org/snomedct/25374005|NCIT:C34632|DOID:2326|UMLS:C0017160|http://identifiers.org/mesh/D005759	
MONDO:0002262	biolink:Disease	capillary lymphangioma	A lymphangioma that involves the capillary.	DOID:2286|UMLS:C1333176|SCTID:445492005|NCIT:C27509	mondo.json	cutaneous lymphangioma|capillary lymphangioma	http://purl.obolibrary.org/obo/MONDO_0002262	DOID:2286|http://identifiers.org/snomedct/445492005	
MONDO:0002263	biolink:Disease	female reproductive system disorder	A disease involving the female reproductive system.	SCTID:310789003|DOID:229|NCIT:C27020|ICD9:629.9|MESH:D005831	mondo.json	disease of female reproductive system|disease or disorder of female reproductive system|gynecological disease|disorder of female genital tract|female reproductive disease|female reproductive system disease or disorder|disorder of female reproductive system|female reproductive system disease|disorder of female genital system|female reproductive system disorder|disease of female genital system	http://purl.obolibrary.org/obo/MONDO_0002263	DOID:229|NCIT:C27020|http://identifiers.org/mesh/D005831|http://identifiers.org/snomedct/310789003	
MONDO:0002264	biolink:Disease	obsolete atrophy of prostate		DOID:2301|SCTID:29524003|UMLS:C0156296|ICD10WHO:N42.2|ICD9:602.2	mondo.json	prostate atrophy|atrophy of prostate|atrophic prostate	http://purl.obolibrary.org/obo/MONDO_0002264	UMLS:C0156296|http://identifiers.org/snomedct/29524003|DOID:2301|https://icd.who.int/browse10/2019/en#/N42.2	
UBERON:0035014	biolink:AnatomicalEntity	functional part of brain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035014		
MONDO:0002265	biolink:Disease	stereotypic movement disorder	Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (dsm-iv, 1994)	DOID:2303|SCTID:5507002|MESH:D019956|ICD9:307.3	mondo.json	stereotypy habit disorder|stereotyped repetitive movements|stereotyped repetitive movements NOS (finding)	http://purl.obolibrary.org/obo/MONDO_0002265	DOID:2303|http://identifiers.org/mesh/D019956|http://identifiers.org/snomedct/5507002	
HGNC:23230	biolink:NamedThing	UBA5			mondo.json		http://identifiers.org/hgnc/23230		
MONDO:0002260	biolink:Disease	hidradenitis	An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland.	UMLS:C0085160|MESH:D016575|DOID:2282|ICD9:705.83|NCIT:C32132|SCTID:69741000	mondo.json	inflammation of apocrine sweat gland|apocrine sweat gland inflammation|Hydradenitis|apocrine sweat gland	http://purl.obolibrary.org/obo/MONDO_0002260	http://identifiers.org/snomedct/69741000|NCIT:C32132|DOID:2282|http://identifiers.org/mesh/D016575|UMLS:C0085160	
CL:1001579	biolink:Cell	cerebral cortex glial cell	Glial cell of cerebral cortex.	CALOHA:TS-1256	mondo.json	cerebral cortex glial cells|cerebrum cortex glial cell|brain cortex glial cell	http://purl.obolibrary.org/obo/CL_1001579		
CL:1001578	biolink:Cell	vagina squamous cell	Squamous cell of vaginal epithelium.	CALOHA:TS-1254	mondo.json	vaginal squamous cell|vagina squamous epithelial cells|vagina squamous epithelial cell|vaginal squamous epithelial cell	http://purl.obolibrary.org/obo/CL_1001578		
MONDO:0002261	biolink:Disease	keratopathy	Any disorder of the cornea.	UMLS:C0235270|NCIT:C27012|DOID:2283	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002261	UMLS:C0235270|NCIT:C27012|DOID:2283	
CL:1001577	biolink:Cell	tonsil squamous cell	Squamous cell of tonsil epithelium.	CALOHA:TS-1253	mondo.json	tonsillar squamous cell|tonsil squamous epithelial cell|tonsillar squamous epithelial cell|tonsil squamous epithelial cells	http://purl.obolibrary.org/obo/CL_1001577		
MONDO:0014237	biolink:Disease	autosomal recessive nonsyndromic hearing loss 76	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene.	DOID:0110524|OMIM:615540|UMLS:C3147083	mondo.json	autosomal recessive deafness 76|SYNE4 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 76|autosomal recessive nonsyndromic deafness caused by mutation in SYNE4|autosomal recessive nonsyndromic deafness 76|autosomal recessive nonsyndromic deafness type 76|deafness, autosomal recessive 76|DFNB76	http://purl.obolibrary.org/obo/MONDO_0014237	UMLS:C3147083|DOID:0110524|https://omim.org/entry/615540	clingen
MONDO:0014236	biolink:Disease	Ehlers-Danlos syndrome, musculocontractural type 2	Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene.	OMIM:615539|UMLS:C3809845	mondo.json	Ehlers-Danlos syndrome, musculocontractural type caused by mutation in DSE|EDSMC2|DSE Ehlers-Danlos syndrome, musculocontractural type|Ehlers-Danlos syndrome, musculocontractural type, 2|Ehlers-Danlos syndrome, musculocontractural type 2	http://purl.obolibrary.org/obo/MONDO_0014236	https://omim.org/entry/615539|UMLS:C3809845	
CL:1001576	biolink:Cell	oral mucosa squamous cell	Squamous cell of oral epithelium.	CALOHA:TS-1252	mondo.json	oral mucosa squamous epithelial cell|oral cavity mucosa squamous epithelial cell|oral mucosa squamous epithelial cells|oral cavity mucosa squamous cell	http://purl.obolibrary.org/obo/CL_1001576		
HGNC:11257	biolink:NamedThing	SPR			mondo.json		http://identifiers.org/hgnc/11257		
CL:1001575	biolink:Cell	uterine cervix squamous cell	Squamous cell of uterine cervix epithelium.	CALOHA:TS-1251	mondo.json	uterine cervix squamous epithelial cell|cervix squamous cell|cervix, uterine squamous epithelial cells|cervix squamous epithelial cell|uterine cervix squamous epithelial cells	http://purl.obolibrary.org/obo/CL_1001575		
MONDO:0014235	biolink:Disease	chromosome 22q13 duplication syndrome		DOID:0060437|UMLS:C3809844|OMIM:615538	mondo.json	chromosome 22q13 duplication syndrome|chromosome 22q13 duplication syndrome, isolated cases	http://purl.obolibrary.org/obo/MONDO_0014235	https://omim.org/entry/615538|DOID:0060437|UMLS:C3809844	
MONDO:0014234	biolink:Disease	reticulate acropigmentation of Kitamura	A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.	OMIM:615537|SCTID:239133004|DOID:0060258|Orphanet:178307|MESH:C562924|ICD9:709.09	mondo.json	RAPK|RAK|Kitamura reticulate acropigmentation|reticulate pigmentation of Kitamura|acropigmentatio reticularis|reticulate acropigmentation of Kitamura	http://purl.obolibrary.org/obo/MONDO_0014234	Orphanet:178307|http://identifiers.org/snomedct/239133004|DOID:0060258|https://omim.org/entry/615537	ordo_disease
MONDO:0016896	biolink:Disease	obsolete partial deletion of the short arm of chromosome 18			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016896		
CL:1001573	biolink:Cell	nasopharyngeal epithelial cell	Cell of the nasopharyngeal epithelium.	CALOHA:TS-2398	mondo.json	nasopharynx respiratory epithelial cells	http://purl.obolibrary.org/obo/CL_1001573		
MONDO:0016897	biolink:Disease	partial deletion of the short arm of chromosome 19		Orphanet:261983	mondo.json	partial deletion of chromosome 19p|partial deletion of the short arm of chromosome type 19|partial monosomy of chromosome 19p|partial monosomy of the short arm of chromosome 19	http://purl.obolibrary.org/obo/MONDO_0016897	Orphanet:261983	disease_grouping|ordo_group_of_disorders
CL:1001572	biolink:Cell	colon endothelial cell	A vascular endothelial cell found in colon blood vessels.	CALOHA:TS-2397	mondo.json	colon endothelial cells|colonic endothelial cell	http://purl.obolibrary.org/obo/CL_1001572		
MONDO:0016898	biolink:Disease	partial monosomy of the short arm of chromosome 20		MESH:C535370|Orphanet:261992|UMLS:CN036364|GARD:0003739	mondo.json	chromosome 20p deletion|monosomy 20p|partial deletion of the short arm of chromosome 20|partial monosomy 20p|20p deletion|Pure partial 20p deletion|20p monosomy|partial deletion of chromosome 20p|partial monosomy of the short arm of chromosome type 20|deletion 20p|partial monosomy of chromosome 20p	http://purl.obolibrary.org/obo/MONDO_0016898	Orphanet:261992|http://identifiers.org/mesh/C535370|UMLS:CN036364	gard_rare|disease_grouping|ordo_group_of_disorders
MONDO:0014239	biolink:Disease	testicular anomalies with or without congenital heart disease		UMLS:C3809858|OMIM:615542	mondo.json	testicular anomalies with or without congenital heart disease|TACHD	http://purl.obolibrary.org/obo/MONDO_0014239	https://omim.org/entry/615542|UMLS:C3809858	
MONDO:0014238	biolink:Disease	severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome		UMLS:C3809853|Orphanet:391307|OMIM:615541	mondo.json	intellectual disability, autosomal recessive type 39|intellectual disability, autosomal recessive 39|mental retardation, autosomal recessive 39|mental retardation, autosomal recessive type 39|MRT39	http://purl.obolibrary.org/obo/MONDO_0014238	Orphanet:391307|https://omim.org/entry/615541|UMLS:C3809853	ordo_malformation_syndrome
MONDO:0016899	biolink:Disease	Duchenne and Becker muscular dystrophy	Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.	Orphanet:262|UMLS:CN227033	mondo.json	severe dystrophinopathy, Duchenne and Becker type	http://purl.obolibrary.org/obo/MONDO_0016899	UMLS:CN227033|Orphanet:262	disease_grouping|ordo_group_of_disorders
MONDO:0016892	biolink:Disease	partial deletion of the short arm of chromosome 10		Orphanet:261938|UMLS:C0795836	mondo.json	partial deletion of chromosome 10p|partial deletion of the short arm of chromosome type 10|partial monosomy of chromosome 10p|partial monosomy of the short arm of chromosome 10	http://purl.obolibrary.org/obo/MONDO_0016892	Orphanet:261938|UMLS:C0795836	ordo_group_of_disorders|disease_grouping
MONDO:0016893	biolink:Disease	partial deletion of the short arm of chromosome 11		Orphanet:261947	mondo.json	partial deletion of the short arm of chromosome type 11|partial deletion of chromosome 11p|partial monosomy of chromosome 11p|partial monosomy of the short arm of chromosome 11	http://purl.obolibrary.org/obo/MONDO_0016893	Orphanet:261947	disease_grouping|ordo_group_of_disorders
MONDO:0016894	biolink:Disease	partial deletion of the short arm of chromosome 16		Orphanet:261956	mondo.json	partial monosomy of the short arm of chromosome 16|partial deletion of chromosome 16p|partial monosomy of chromosome 16p|partial deletion of the short arm of chromosome type 16	http://purl.obolibrary.org/obo/MONDO_0016894	Orphanet:261956	disease_grouping|ordo_group_of_disorders
MONDO:0016895	biolink:Disease	obsolete partial monosomy of the short arm of chromosome 17			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016895		
NCBITaxon:241806	biolink:OrganismalEntity	Polypodiopsida		PMID:21652310|GC_ID:1	mondo.json	Filicopsida|ferns|Moniliformopses	http://purl.obolibrary.org/obo/NCBITaxon_241806		
MONDO:0014233	biolink:Disease	early-onset Parkinson disease 20	Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene.	DOID:0060898|OMIM:615530|Orphanet:391411|UMLS:C3809824	mondo.json	early-onset Parkinson disease type 20|early-onset Parkinson's disease 20|Parkinson disease 20, early-onset|SYNJ1 Parkinson disease|PARK20|Parkinson disease caused by mutation in SYNJ1	http://purl.obolibrary.org/obo/MONDO_0014233	https://omim.org/entry/615530|UMLS:C3809824|DOID:0060898	
MONDO:0014232	biolink:Disease	craniosynostosis 5, susceptibility to	Any craniosynostosis in which the cause of the disease is a mutation in the ALX4 gene.	OMIM:615529	mondo.json	craniosynostosis 5, susceptibility to|susceptibility to craniosynostosis 5|ALX4 craniosynostosis|CRS5|craniosynostosis caused by mutation in ALX4	http://purl.obolibrary.org/obo/MONDO_0014232	https://omim.org/entry/615529	predisposition
MONDO:0016890	biolink:Disease	partial deletion of the short arm of chromosome 8	Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	GARD:0003768|Orphanet:261920|MESH:C537826	mondo.json	partial monosomy of chromosome 8p|monosomy 8p|deletion 8p|partial deletion of chromosome 8p|8p deletion|8p monosomy|partial deletion of the short arm of chromosome type 8|partial monosomy of the short arm of chromosome 8|partial monosomy 8p|chromosome 8p deletion	http://purl.obolibrary.org/obo/MONDO_0016890	http://identifiers.org/mesh/C537826|Orphanet:261920	disease_grouping|ordo_group_of_disorders|gard_rare
MONDO:0014231	biolink:Disease	juvenile onset Parkinson disease 19A	Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene.	UMLS:C3809811|DOID:0060891|OMIM:615528	mondo.json	Parkinson disease 19A, juvenile-onset|juvenile onset Parkinson disease type 19A|DNAJC6 Parkinson disease|juvenile onset Parkinson's disease 19A|Parkinson disease 19B, early-onset|Parkinson disease 19, juvenile-onset|Parkinson disease caused by mutation in DNAJC6|PARK19A|PARK19|juvenile onset Parkinson disease 19A|Park19, formerly	http://purl.obolibrary.org/obo/MONDO_0014231	https://omim.org/entry/615528|UMLS:C3809811|DOID:0060891	
MONDO:0016891	biolink:Disease	obsolete partial deletion of the short arm of chromosome 9		Orphanet:261929	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016891	Orphanet:261929	
NCBITaxon:2805591	biolink:OrganismalEntity	Tropherymataceae		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2805591		
MONDO:0014230	biolink:Disease	candidiasis, familial, 8	Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene.	UMLS:C3714992|OMIM:615527	mondo.json	TRAF3IP2 chronic mucocutaneous candidiasis (disease)|CANDF8|candidiasis, familial chronic mucocutaneous, autosomal recessive|candidiasis, familial, 8|chronic mucocutaneous candidiasis (disease) caused by mutation in TRAF3IP2|candidiasis, familial, type 8	http://purl.obolibrary.org/obo/MONDO_0014230	UMLS:C3714992|https://omim.org/entry/615527	
MONDO:0002237	biolink:Disease	carbuncle	An infection of cutaneous and subcutaneous tissue that consists of a cluster of boils. Commonly, the causative agent is staphylococcus aureus. Carbuncles produce fever, leukocytosis, extreme pain, and prostration.	ICD9:680.9|ICD9:680.8|EFO:1000674|SCTID:416893007|UMLS:C0007078|DOID:2176|MESH:D002270	mondo.json	carbuncle and furuncle of upper arm and forearm|carbuncle and furuncle of face|carbuncle and furuncle of trunk|carbuncle and furuncle of leg except foot|carbuncle and furuncle of gluteal region|carbuncle and furuncle of any part of face except eye|carbuncle and furuncle of buttock|carbuncle and furuncle of hand|carbuncle and furuncle of neck|carbuncle and furuncle of foot	http://purl.obolibrary.org/obo/MONDO_0002237	http://identifiers.org/mesh/D002270|UMLS:C0007078|http://identifiers.org/snomedct/416893007|DOID:2176	
UBERON:0011092	biolink:AnatomicalEntity	right pelvic girdle region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011092		
MONDO:0002238	biolink:Disease	ascending colon cancer	A malignant neoplasm involving the ascending colon.	UMLS:C0153439|ICD9:153.6|DOID:218|SCTID:363412000	mondo.json	malignant ascending colon neoplasm|cancer of ascending colon|malignant neoplasm of right colon|Ca ascending colon|malignant neoplasm of ascending colon|ascending colon cancer|malignant tumor of ascending colon	http://purl.obolibrary.org/obo/MONDO_0002238	UMLS:C0153439|http://identifiers.org/snomedct/363412000|DOID:218	
MONDO:0004899	biolink:Disease	monofixation syndrome		UMLS:C0339611|ICD9:378.34|DOID:9843|ICD10CM:H50.42|SCTID:14785004	mondo.json	microtropia|microstrabismus	http://purl.obolibrary.org/obo/MONDO_0004899	DOID:9843|http://purl.bioontology.org/ontology/ICD10CM/H50.42|UMLS:C0339611|http://identifiers.org/snomedct/14785004	
UBERON:0011091	biolink:AnatomicalEntity	skeleton of left pelvic girdle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011091		
HGNC:23204	biolink:NamedThing	KIRREL3			mondo.json		http://identifiers.org/hgnc/23204		
MONDO:0002239	biolink:Disease	post-surgical hypoinsulinemia		UMLS:C0154190|DOID:2181|ICD9:251.3|SCTID:190437000	mondo.json	postsurgical hypoinsulinemia	http://purl.obolibrary.org/obo/MONDO_0002239	DOID:2181|http://identifiers.org/snomedct/190437000|UMLS:C0154190	
UBERON:0011090	biolink:AnatomicalEntity	skeleton of right pelvic girdle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011090		
MONDO:0026203	biolink:Disease	obsolete genetic respiratory malformation		Orphanet:183622	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026203	Orphanet:183622	
MONDO:0002233	biolink:Disease	enamel caries	A dental caries that involves the enamel.	SCTID:80353004|DOID:217|ICD9:521.01|UMLS:C0266853	mondo.json	dental caries of enamel|simple dental cavity|primary dental caries|enamel dental caries|dental caries limited to enamel	http://purl.obolibrary.org/obo/MONDO_0002233	http://identifiers.org/snomedct/80353004|DOID:217|UMLS:C0266853	
MONDO:0004896	biolink:Disease	esotropia	A form of strabismus in which one or both eyes are deviated medially.	UMLS:C0014877|NCIT:C34596|ICD9:378.00|SCTID:16596007|ICD9:378.0|MESH:D004948|DOID:9840|GARD:0008235	mondo.json	crossed eyes|internal strabismus|convergence in manifest squint	http://purl.obolibrary.org/obo/MONDO_0004896	DOID:9840|http://identifiers.org/snomedct/16596007|http://identifiers.org/mesh/D004948|UMLS:C0014877|NCIT:C34596	gard_rare
UBERON:0011096	biolink:AnatomicalEntity	lacrimal nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011096		
MONDO:0002234	biolink:Disease	vaginitis	A non-infectious or infectious inflammatory process affecting the vagina.	SCTID:30800001|DOID:2170|MESH:D014627|UMLS:C0042267|ICD9:616.10|EFO:0005757|NCIT:C26911|HP:0030683|ICD9:616.1	mondo.json	inflammation of vagina|vaginitis|vaginitis (disease)|vagina inflammation|vaginal inflammation|vaginal Inflammation	http://purl.obolibrary.org/obo/MONDO_0002234	NCIT:C26911|http://identifiers.org/mesh/D014627|UMLS:C0042267|http://identifiers.org/snomedct/30800001|DOID:2170	
MONDO:0004895	biolink:Disease	accommodative esotropia		DOID:9839|ICD9:378.35|UMLS:C0155336|SCTID:419494007	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004895	http://identifiers.org/snomedct/419494007|UMLS:C0155336|DOID:9839	
MONDO:0026209	biolink:Disease	obsolete genetic polyendocrinopathy		Orphanet:183643	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026209	Orphanet:183643	
UBERON:0011095	biolink:AnatomicalEntity	vertebra pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011095		
MONDO:0004898	biolink:Disease	total circumpapillary dystrophy of choroid		UMLS:C0154896|SCTID:59753003|ICD9:363.52|DOID:9842	mondo.json	circumpapillary dystrophy of choroid, total	http://purl.obolibrary.org/obo/MONDO_0004898	UMLS:C0154896|DOID:9842|http://identifiers.org/snomedct/59753003	
MONDO:0002235	biolink:Disease	eyelid neoplasm	A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma.	Orphanet:98580|UMLS:C0015424|SCTID:278697001|NCIT:C3031|EFO:1000934|MESH:D005142|DOID:2173	mondo.json	tumor of eyelid|neoplasm of the eyelid|tumor of the eyelid|palpebral tumor|eyelid neoplasm|neoplasm of eyelid|eyelid tumor|eyelid neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0002235	http://identifiers.org/snomedct/278697001|NCIT:C3031|UMLS:C0015424|Orphanet:98580|DOID:2173|http://identifiers.org/mesh/D005142	disease_grouping|ordo_group_of_disorders
UBERON:0011094	biolink:AnatomicalEntity	vertebra cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011094		
MONDO:0004897	biolink:Disease	hypotropia	Vertical strabismus in which there is permanent downward deviation of the visual axis of one eye.	SCTID:29491004|NCIT:C42086|UMLS:C0152208|ICD9:378.32|DOID:9841	mondo.json	hypotropia|sunset sign|downward ocular deviation	http://purl.obolibrary.org/obo/MONDO_0004897	DOID:9841|UMLS:C0152208|http://identifiers.org/snomedct/29491004|NCIT:C42086	
MONDO:0002236	biolink:Disease	ocular cancer	A benign or malignant neoplasm affecting the structures of the eye.	ICD9:190.8|ICD9:239.89|NCIT:C4767|MESH:D005134|SCTID:371486001|DOID:2174	mondo.json	ocular tumor|neoplasm of eye|malignant neoplasm of eye|eyeball of camera-type eye cancer|malignant neoplasm of the eye|malignant eyeball of camera-type eye neoplasm|malignant eye tumor|malignant neoplasm of eyeball of camera-type eye|malignant ocular tumor|malignant tumor of the eye|cancer of eye|malignant tumor of eye|malignant ocular neoplasm|cancer of the eye|eye neoplasm|cancer of eyeball of camera-type eye|malignant eye neoplasm|neoplasm of eye proper|eye cancer|eye neoplasm, malignant	http://purl.obolibrary.org/obo/MONDO_0002236	http://identifiers.org/snomedct/371486001|NCIT:C4767|DOID:2174|http://identifiers.org/mesh/D005134	
MONDO:0028868	biolink:Disease	obsolete genetic frontotemporal degeneration with dementia		Orphanet:276061	mondo.json		http://purl.obolibrary.org/obo/MONDO_0028868	Orphanet:276061	
UBERON:0011093	biolink:AnatomicalEntity	left pelvic girdle region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011093		
MONDO:0004892	biolink:Disease	refractive error	A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia.	MESH:D012030|DOID:9835|SCTID:39021009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004892	http://identifiers.org/snomedct/39021009|http://identifiers.org/mesh/D012030|DOID:9835	
MONDO:0002230	biolink:Disease	ovarian Wilms tumor	An embryonal neoplasm arising from the ovary with morphologic features resembling Wilms tumor of the kidney. It occurs during the reproductive age and may present as a rapidly growing adnexal mass.	DOID:2153|NCIT:C40443|UMLS:C1518746	mondo.json	ovarian Wilms' tumor|ovary Wilms tumor|ovarian Wilms' cancer|ovarian Wilms tumor	http://purl.obolibrary.org/obo/MONDO_0002230	NCIT:C40443|DOID:2153|UMLS:C1518746	
MONDO:0004891	biolink:Disease	hyperopia	A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)	UMLS:C0020490|ICD9:367.0|SCTID:38101003|DOID:9834|ICD10CM:H52.0|MESH:D006956	mondo.json	hypermetropia|Far-sightedness	http://purl.obolibrary.org/obo/MONDO_0004891	http://purl.bioontology.org/ontology/ICD10CM/H52.0|http://identifiers.org/mesh/D006956|DOID:9834|UMLS:C0020490|http://identifiers.org/snomedct/38101003	
MONDO:0002231	biolink:Disease	obsolete malignant ovarian germ cell neoplasm			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002231		
MONDO:0004894	biolink:Disease	cyclotropia		ICD9:378.33|DOID:9838|SCTID:70486007|UMLS:C0152209	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004894	http://identifiers.org/snomedct/70486007|UMLS:C0152209|DOID:9838	
MONDO:0004893	biolink:Disease	hypertropia	Vertical strabismus in which there is permanent upward deviation of the visual axis of one eye.	ICD9:378.31|UMLS:C0020575|SCTID:40608009|NCIT:C34716|DOID:9837	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004893	NCIT:C34716|http://identifiers.org/snomedct/40608009|DOID:9837|UMLS:C0020575	
MONDO:0002232	biolink:Disease	nasal cavity disorder	A disease involving the nasal cavity.	SCTID:232340005|UMLS:C0339820|NCIT:C27102|DOID:2163	mondo.json	nasal cavity disease or disorder|nasal cavity disorder|disorder of nasal cavity|disease of nasal cavity|disease or disorder of nasal cavity|nasal cavity disease	http://purl.obolibrary.org/obo/MONDO_0002232	http://identifiers.org/snomedct/232340005|UMLS:C0339820|NCIT:C27102|DOID:2163	
HGNC:11219	biolink:NamedThing	SPARC			mondo.json		http://identifiers.org/hgnc/11219		
MONDO:0004890	biolink:Disease	partial central choroid dystrophy		OMIM:613105|DOID:9822|ICD9:363.53|SCTID:193468002|UMLS:C0339427	mondo.json	partial central dystrophy of choroid|circinate choroidal dystrophy|choroidal dystrophy, central areolar|partial central choroid dystrophy	http://purl.obolibrary.org/obo/MONDO_0004890	UMLS:C0339427|http://identifiers.org/snomedct/193468002|DOID:9822	
MONDO:0014226	biolink:Disease	idiopathic CD4 lymphocytopenia	Idiopathic CD4 lymphocytopenia (ICL) is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.	OMIM:615518|UMLS:C3809768|GARD:0012375|Orphanet:228000|SCTID:763713000	mondo.json	ICL|idiopathic CD4 positive T-lymphocytopenia|idiopathic Cd4 lymphopenia|IMD13|immunodeficiency type 13|immunodeficiency 13	http://purl.obolibrary.org/obo/MONDO_0014226	Orphanet:228000|https://omim.org/entry/615518|http://identifiers.org/snomedct/763713000|UMLS:C3809768	ordo_disease
MONDO:0016889	biolink:Disease	partial deletion of the short arm of chromosome 7	Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	GARD:0001346|Orphanet:261911	mondo.json	partial monosomy 7p|monosomy 7p|chromosome 7p deletion|partial deletion of the short arm of chromosome type 7|deletion 7p|partial monosomy of the short arm of chromosome 7|partial monosomy of chromosome 7p|partial deletion of chromosome 7p|7p deletion|7p monosomy	http://purl.obolibrary.org/obo/MONDO_0016889	Orphanet:261911	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0014225	biolink:Disease	hemochromatosis type 5	Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene.	Orphanet:447792|UMLS:CN181217|DOID:0111031|UMLS:C1851316|MESH:C565020|Orphanet:247790|UMLS:CN237708|OMIM:615517	mondo.json	FTH1-associated iron overload|FTH1-related iron overload|hemochromatosis, type 5|HFE5|iron overload, autosomal dominant|FTH1 hereditary hemochromatosis|hereditary hemochromatosis caused by mutation in FTH1	http://purl.obolibrary.org/obo/MONDO_0014225	UMLS:C1851316|UMLS:CN181217|http://identifiers.org/mesh/C565020|DOID:0111031|UMLS:CN237708|https://omim.org/entry/615517|Orphanet:247790	merged_class|ordo_disease
MONDO:0014224	biolink:Disease	developmental delay with autism spectrum disorder and gait instability	Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.	Orphanet:329195|OMIM:615516|UMLS:C3809753	mondo.json	intellectual disability, autosomal recessive 38|intellectual developmental disorder, autosomal recessive 38|mental retardation, autosomal recessive 38|mental retardation, autosomal recessive type 38|MRT38|developmental delay with ASD and gait instability|intellectual disability, autosomal recessive type 38	http://purl.obolibrary.org/obo/MONDO_0014224	Orphanet:329195|https://omim.org/entry/615516|UMLS:C3809753	ordo_disease
MONDO:0014223	biolink:Disease	amyotrophic lateral sclerosis type 19	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene.	OMIM:615515|UMLS:C3715155|DOID:0060210	mondo.json	ALS19|ERBB4 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis caused by mutation in ERBB4|amyotrophic lateral sclerosis type 19|amyotrophic lateral sclerosis 19	http://purl.obolibrary.org/obo/MONDO_0014223	UMLS:C3715155|DOID:0060210|https://omim.org/entry/615515	
MONDO:0016885	biolink:Disease	partial deletion of the short arm of chromosome 3		Orphanet:261875	mondo.json	partial deletion of chromosome 3p|partial deletion of the short arm of chromosome type 3|partial monosomy of the short arm of chromosome 3|partial monosomy of chromosome 3p	http://purl.obolibrary.org/obo/MONDO_0016885	Orphanet:261875	disease_grouping|ordo_group_of_disorders
MONDO:0014229	biolink:Disease	microphthalmia, syndromic 12	Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome.	UMLS:C3809803|OMIM:615524|GARD:0013235	mondo.json	RARB syndromic microphthalmia|microphthalmia, syndromic type 12|microphthalmia, syndromic 12|microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects|MCOPS12|syndromic microphthalmia-12|syndromic microphthalmia caused by mutation in RARB	http://purl.obolibrary.org/obo/MONDO_0014229	https://omim.org/entry/615524|UMLS:C3809803	gard_rare
MONDO:0016886	biolink:Disease	obsolete partial deletion of the short arm of chromosome 4			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016886		
MONDO:0016887	biolink:Disease	partial deletion of the short arm of chromosome 5		Orphanet:261893	mondo.json	partial deletion of chromosome 5p|partial monosomy of the short arm of chromosome 5|partial monosomy of chromosome 5p|partial deletion of the short arm of chromosome type 5	http://purl.obolibrary.org/obo/MONDO_0016887	Orphanet:261893	disease_grouping|ordo_group_of_disorders
MONDO:0014228	biolink:Disease	corneal dystrophy, Fuchs endothelial, 8	Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the AGBL1 gene.	UMLS:C3809798|OMIM:615523	mondo.json	AGBL1 Fuchs' endothelial dystrophy|Fuchs' endothelial dystrophy caused by mutation in AGBL1|corneal dystrophy, Fuchs endothelial, 8|corneal dystrophy, Fuchs endothelial, type 8|FECD8	http://purl.obolibrary.org/obo/MONDO_0014228	https://omim.org/entry/615523|UMLS:C3809798	
HGNC:13886	biolink:NamedThing	ABCG5			mondo.json		http://identifiers.org/hgnc/13886		
MONDO:0014227	biolink:Disease	hypopigmentation-punctate palmoplantar keratoderma syndrome		Orphanet:324561|UMLS:C3809781|SCTID:711154007|OMIM:615522|ICD9:757.39|GARD:0012384	mondo.json	guttate hypopigmentation and punctate palmoplantar keratoderma|Cole disease|COLE disease|COLED|punctate palmoplantar keratoderma with or without ectopic calcification|guttate hypopigmentation|hypopigmentation and punctate keratosis of the palms and soles|guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification	http://purl.obolibrary.org/obo/MONDO_0014227	http://identifiers.org/snomedct/711154007|Orphanet:324561|https://omim.org/entry/615522|UMLS:C3809781	ordo_disease
MONDO:0016888	biolink:Disease	partial deletion of the short arm of chromosome 6		Orphanet:261902	mondo.json	partial deletion of the short arm of chromosome type 6|partial monosomy of chromosome 6p|partial monosomy of the short arm of chromosome 6|partial deletion of chromosome 6p	http://purl.obolibrary.org/obo/MONDO_0016888	Orphanet:261902	ordo_group_of_disorders|disease_grouping
HGNC:13887	biolink:NamedThing	ABCG8			mondo.json		http://identifiers.org/hgnc/13887		
HGNC:11226	biolink:NamedThing	SPG11			mondo.json		http://identifiers.org/hgnc/11226		
MONDO:0016881	biolink:Disease	partial deletion of chromosome 19		Orphanet:261841	mondo.json	partial monosomy of chromosome 19|partial deletion of chromosome type 19	http://purl.obolibrary.org/obo/MONDO_0016881	Orphanet:261841	disease_grouping|ordo_group_of_disorders
MONDO:0016882	biolink:Disease	partial deletion of chromosome 20		Orphanet:261846	mondo.json	partial monosomy of chromosome 20|partial deletion of chromosome type 20	http://purl.obolibrary.org/obo/MONDO_0016882	Orphanet:261846	disease_grouping|ordo_group_of_disorders
MONDO:0016883	biolink:Disease	partial deletion of the short arm of chromosome 1	Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	GARD:0003730|Orphanet:261857|NCIT:C36501|UMLS:C0795796|MESH:C535591	mondo.json	del(1p)|partial deletion of chromosome 1p|loss of chromosome 1p|chromosome 1p deletion|partial monosomy 1p|monosomy 1p|partial deletion of the short arm of chromosome type 1|deletion 1p|partial monosomy of the short arm of chromosome 1|1p deletion|partial monosomy of chromosome 1p|1p monosomy	http://purl.obolibrary.org/obo/MONDO_0016883	Orphanet:261857|UMLS:C0795796|http://identifiers.org/mesh/C535591	gard_rare|disease_grouping|ordo_group_of_disorders
MONDO:0016884	biolink:Disease	partial deletion of the short arm of chromosome 2		Orphanet:261866	mondo.json	partial deletion of chromosome 2p|partial deletion of the short arm of chromosome type 2|partial monosomy of the short arm of chromosome 2|partial monosomy of chromosome 2p	http://purl.obolibrary.org/obo/MONDO_0016884	Orphanet:261866	disease_grouping|ordo_group_of_disorders
MONDO:0014222	biolink:Disease	immunodeficiency 14		OMIM:615513	mondo.json	immunodeficiency 14|immunodeficiency type 14|Activated PI3K-Delta syndrome|p110-Delta-Activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency|IMD14|immunodeficiency 14A, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0014222	https://omim.org/entry/615513	
MONDO:0014221	biolink:Disease	triosephosphate isomerase deficiency	Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.	SCTID:234405009|MESH:C566029|UMLS:C1860808|OMIM:615512|DOID:0050884|Orphanet:868|ICD9:282.3|GARD:0005287|NCIT:C131652	mondo.json	hemolytic anemia due to triosephosphate isomerase deficiency|triose phosphate-isomerase deficiency|TPID|triosephosphate isomerase deficiency|TPI deficiency	http://purl.obolibrary.org/obo/MONDO_0014221	http://identifiers.org/snomedct/234405009|http://identifiers.org/mesh/C566029|DOID:0050884|Orphanet:868|UMLS:C1860808|https://omim.org/entry/615512|NCIT:C131652	ordo_disease|gard_rare
MONDO:0014220	biolink:Disease	myopathy due to myoadenylate deaminase deficiency		GARD:0000547|OMIM:615511	mondo.json	AMP deaminase 1 deficiency|AMPD1 deficiency|MMDD|myoadenylate deaminase deficiency, myopathy due to|adenosine monophosphate deaminase-1 deficiency, myopathy due to|adenosine monophosphate deaminase deficiency|adenosine monophosphate deaminase 1 deficiency|myopathy due to myoadenylate deaminase deficiency|myoadenylate deaminase deficiency|AMP deaminase deficiency	http://purl.obolibrary.org/obo/MONDO_0014220	https://omim.org/entry/615511	gard_rare|prototype_pattern
MONDO:0016880	biolink:Disease	partial deletion of chromosome 18		Orphanet:261836	mondo.json	partial deletion of chromosome type 18|partial monosomy of chromosome 18	http://purl.obolibrary.org/obo/MONDO_0016880	Orphanet:261836	disease_grouping|ordo_group_of_disorders
MONDO:0002248	biolink:Disease	obsolete myeloproliferative neoplasm			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002248		
MONDO:0002249	biolink:Disease	thrombocytosis disease	A disease characterized by higher than normal platelet counts in the peripheral blood.	ICD9:289.9|DOID:2228|SCTID:6631009|MESH:D013922|NCIT:C35530|UMLS:C0836924	mondo.json	thrombocytosis|elevated Platelet count|Platelet count increased|Thrombocythaemia	http://purl.obolibrary.org/obo/MONDO_0002249	http://identifiers.org/snomedct/6631009|NCIT:C35530|http://identifiers.org/mesh/D013922|DOID:2228|UMLS:C0836924	
HGNC:23215	biolink:NamedThing	PIGO			mondo.json		http://identifiers.org/hgnc/23215		
HGNC:23212	biolink:NamedThing	MYH14			mondo.json		http://identifiers.org/hgnc/23212		
GO:0046031	biolink:NamedThing	ADP metabolic process	The chemical reactions and pathways involving ADP, adenosine 5'-diphosphate.		mondo.json	ADP metabolism	http://purl.obolibrary.org/obo/GO_0046031		
HGNC:23213	biolink:NamedThing	PIGW			mondo.json		http://identifiers.org/hgnc/23213		
MONDO:0002244	biolink:Disease	factor VII deficiency	A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood.	UMLS:C0015503|SCTID:37193007|ICD9:286.3|MESH:D005168	mondo.json	F7 deficiency|deficiency, stable|factor 7 deficiency|factor VII deficiency	http://purl.obolibrary.org/obo/MONDO_0002244	UMLS:C0015503|http://identifiers.org/snomedct/37193007|http://identifiers.org/mesh/D005168	
MONDO:0002245	biolink:Disease	blood platelet disease	Disorders caused by abnormalities in platelet count or function.	MESH:D001791|SCTID:22716005|NCIT:C131634	mondo.json	thrombocytopathy|platelet abnormality|platelet disorder	http://purl.obolibrary.org/obo/MONDO_0002245	http://identifiers.org/snomedct/22716005|http://identifiers.org/mesh/D001791|NCIT:C131634	
MONDO:0002246	biolink:Disease	perichondritis of auricle	An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it.	ICD9:380.0|UMLS:C0155389|SCTID:34129005|ICD9:380.00|DOID:222	mondo.json	perichondritis of pinna|perichondritis and chondritis of pinna|perichondritis of pinna, unspecified	http://purl.obolibrary.org/obo/MONDO_0002246	DOID:222|http://identifiers.org/snomedct/34129005|UMLS:C0155389	
HGNC:23216	biolink:NamedThing	ZNF469			mondo.json		http://identifiers.org/hgnc/23216		
MONDO:0002247	biolink:Disease	factor X deficiency	A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood.	MESH:D005171|SCTID:76642003|NCIT:C131632	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002247	http://identifiers.org/snomedct/76642003|NCIT:C131632|http://identifiers.org/mesh/D005171	
MONDO:0002240	biolink:Disease	acute perichondritis of pinna	Acute form of perichondritis of auricle.	SCTID:45855004|ICD9:380.01|UMLS:C0155390|DOID:221	mondo.json	perichondritis of auricle, acute|acute perichondritis of auricle	http://purl.obolibrary.org/obo/MONDO_0002240	DOID:221|UMLS:C0155390|http://identifiers.org/snomedct/45855004	
NCBITaxon:481310	biolink:OrganismalEntity	Demodex folliculorum		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_481310		
UBERON:0035034	biolink:AnatomicalEntity	eyelid epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035034		
UBERON:0011088	biolink:AnatomicalEntity	ligament of knee joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011088		
MONDO:0002241	biolink:Disease	factor XIII deficiency	An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII.		mondo.json	FXIIID	http://purl.obolibrary.org/obo/MONDO_0002241		
MONDO:0002242	biolink:Disease	coagulation protein disease	Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding.	NCIT:C27215|DOID:2212|MESH:D020147|UMLS:C0600503|SCTID:86075001	mondo.json	coagulation factor deficiency syndrome|coagulation factor deficiency	http://purl.obolibrary.org/obo/MONDO_0002242	http://identifiers.org/snomedct/86075001|NCIT:C27215|UMLS:C0600503|http://identifiers.org/mesh/D020147	
UBERON:0035036	biolink:AnatomicalEntity	naris epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035036		
MONDO:0014209	biolink:Disease	early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.	UMLS:C3809665|Orphanet:352654|OMIM:615491	mondo.json	SPG79|neurodegeneration with optic atrophy, childhood-onset|spastic paraplegia 79, autosomal recessive|NDGOA	http://purl.obolibrary.org/obo/MONDO_0014209	https://omim.org/entry/615491|UMLS:C3809665|Orphanet:352654	ordo_disease
MONDO:0002243	biolink:Disease	hemorrhagic disease	Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders).	MESH:D006474|DOID:2213|NCIT:C115221|ICD9:287.9	mondo.json	hemorrhagic disease|bleeding diathesis|hemorrhagic diathesis|bleeding tendency|bleeding predisposition|bleeding disorder	http://purl.obolibrary.org/obo/MONDO_0002243	NCIT:C115221|DOID:2213|http://identifiers.org/mesh/D006474	
GO:0048699	biolink:NamedThing	generation of neurons	The process in which nerve cells are generated. This includes the production of neuroblasts and their differentiation into neurons.		mondo.json	neuron generation	http://purl.obolibrary.org/obo/GO_0048699		
UBERON:0035038	biolink:AnatomicalEntity	carpal tunnel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035038		
UBERON:0035037	biolink:AnatomicalEntity	jaw epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035037		
GO:0046034	biolink:NamedThing	ATP metabolic process	The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator.		mondo.json	ATP metabolism	http://purl.obolibrary.org/obo/GO_0046034		
UBERON:0035039	biolink:AnatomicalEntity	rectal artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035039		
CL:1001599	biolink:Cell	pancreas exocrine glandular cell	Glandular cell of exocrine pancreas epithelium. Example: pancreatic acinar cell, glandular cells in pancreatic canaliculi, glandular cells in pancreatic ducts.	CALOHA:TS-1242|BTO:0000028	mondo.json	pancreas exocrine glandular cells|exocrine pancreas glandular cell	http://purl.obolibrary.org/obo/CL_1001599		
MONDO:0014215	biolink:Disease	primary ciliary dyskinesia 27	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene.	OMIM:615504|UMLS:C3809701|DOID:0110611	mondo.json	CILD27|primary ciliary dyskinesia caused by mutation in CCDC65|ciliary dyskinesia, primary, 27|CCDC65 primary ciliary dyskinesia|primary ciliary dyskinesia type 27|ciliary dyskinesia, primary, 27, without situs inversus|primary ciliary dyskinesia 27 without situs inversus|ciliary dyskinesia, primary, type 27	http://purl.obolibrary.org/obo/MONDO_0014215	DOID:0110611|https://omim.org/entry/615504|UMLS:C3809701	
MONDO:0016878	biolink:Disease	partial deletion of chromosome 16		Orphanet:261826	mondo.json	partial deletion of chromosome type 16|partial monosomy of chromosome 16	http://purl.obolibrary.org/obo/MONDO_0016878	Orphanet:261826	ordo_group_of_disorders|disease_grouping
MONDO:0014214	biolink:Disease	short-rib thoracic dysplasia 8 with or without polydactyly	An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.	UMLS:C3809691|OMIM:615503|DOID:0110094	mondo.json	short rib-polydactyly syndrome, type 6|SRPS6|SRTD8|short rib-polydactyly syndrome type VI|short-rib thoracic dysplasia 8 with or without polydactyly	http://purl.obolibrary.org/obo/MONDO_0014214	DOID:0110094|https://omim.org/entry/615503|UMLS:C3809691	
CL:1001598	biolink:Cell	small intestine glandular cell	A glandular cell found in the epithelium of the small intestine. Example: Enterocytes, Goblet cells, enteroendocrine cells; Paneth cells; M cells; Somatostatin-secreting Cells (D-cells) .	CALOHA:TS-1286|FMA:86928	mondo.json	small intestine glandular cells|small intestinal glandular cell|small bowel glandular cell	http://purl.obolibrary.org/obo/CL_1001598		
MONDO:0016879	biolink:Disease	partial deletion of chromosome 17		Orphanet:261831	mondo.json	partial deletion of chromosome type 17|partial monosomy of chromosome 17	http://purl.obolibrary.org/obo/MONDO_0016879	Orphanet:261831	disease_grouping|ordo_group_of_disorders
MONDO:0014213	biolink:Disease	intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome		DOID:0070051|UMLS:C3809686|Orphanet:363611|OMIM:615502	mondo.json	intellectual disability, autosomal dominant type 21|mental retardation, autosomal dominant 21|autosomal dominant intellectual disability 21|autosomal dominant mental retardation 21|autosomal dominant non-syndromic intellectual disability 21|MRD21|intellectual disability, autosomal dominant 21|mental retardation, autosomal dominant type 21	http://purl.obolibrary.org/obo/MONDO_0014213	DOID:0070051|Orphanet:363611|https://omim.org/entry/615502|UMLS:C3809686	ordo_disease
CL:1001597	biolink:Cell	seminal vesicle glandular cell	Glandular cell of seminal vesicle epithelium.	CALOHA:TS-1283	mondo.json	seminal vesicle glandular cells	http://purl.obolibrary.org/obo/CL_1001597		
CL:1001596	biolink:Cell	salivary gland glandular cell	Glandular cell of salivary gland. Example: Serous cells, mucous cells, cuboidal epithelial cells of the intercalated ducts, simple cuboidal epithelium of the striated ducts, epithelial cells of excretory ducts.	CALOHA:TS-1282	mondo.json	salivary gland glandular cells	http://purl.obolibrary.org/obo/CL_1001596		
HGNC:11233	biolink:NamedThing	SPAST			mondo.json		http://identifiers.org/hgnc/11233		
MONDO:0014212	biolink:Disease	sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23.	OMIM:615501|DOID:0111166|PMID:11095995|MESH:C565374|Orphanet:308400|UMLS:C1854990	mondo.json	molybdenum cofactor deficiency complementation group C|molybdenum cofactor deficiency, complementation group type C|MOCOD type C|molybdenum cofactor deficiency, complementation group C|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C|molybdenum cofactor deficiency C|molybdenum cofactor deficiency type C|MOCODC	http://purl.obolibrary.org/obo/MONDO_0014212	DOID:0111166|http://identifiers.org/mesh/C565374|https://omim.org/entry/615501|UMLS:C1854990|Orphanet:308400	ordo_etiological_subtype
CL:1001595	biolink:Cell	rectum glandular cell	Glandular cell of rectal epithelium. Example: Goblet cell; enterocytes or absorptive cells; enteroendocrine and M cells.	CALOHA:TS-1281	mondo.json	rectal glandular cell|rectum glandular cells	http://purl.obolibrary.org/obo/CL_1001595		
MONDO:0014219	biolink:Disease	alacrima, achalasia, and intellectual disability syndrome		OMIM:615510|GARD:0012404|UMLS:C3809738	mondo.json	AAMR|alacrima, achalasia, and intellectual disability syndrome|GMPPA-CDG|alacrima, achalasia, and mental retardation syndrome	http://purl.obolibrary.org/obo/MONDO_0014219	https://omim.org/entry/615510	
MONDO:0016874	biolink:Disease	partial deletion of chromosome 9		Orphanet:261806	mondo.json	partial deletion of chromosome type 9|partial monosomy of chromosome 9	http://purl.obolibrary.org/obo/MONDO_0016874	Orphanet:261806	ordo_group_of_disorders|disease_grouping
MONDO:0016875	biolink:Disease	partial deletion of chromosome 10		Orphanet:261811	mondo.json	partial monosomy of chromosome 10	http://purl.obolibrary.org/obo/MONDO_0016875	Orphanet:261811	ordo_group_of_disorders|disease_grouping
MONDO:0014218	biolink:Disease	severe dermatitis-multiple allergies-metabolic wasting syndrome		OMIM:615508|UMLS:C3809719|Orphanet:369992	mondo.json	EPKHE|severe dermatitis, multiple allergies, and metabolic wasting syndrome|SAM syndrome|erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE|Sam syndrome|congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome|erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-IgE	http://purl.obolibrary.org/obo/MONDO_0014218	UMLS:C3809719|Orphanet:369992|https://omim.org/entry/615508	ordo_disease
MONDO:0014217	biolink:Disease	telangiectasia, hereditary hemorrhagic, type 5	Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene.	OMIM:615506|UMLS:C3809710	mondo.json	GDF2 hereditary hemorrhagic telangiectasia|telangiectasia, hereditary hemorrhagic, type 5|hereditary hemorrhagic telangiectasia caused by mutation in GDF2|HHT5	http://purl.obolibrary.org/obo/MONDO_0014217	UMLS:C3809710|https://omim.org/entry/615506	
CL:1001593	biolink:Cell	parathyroid glandular cell	Glandular cell of parathyroid epithelium. Example: Parathyroid chief cell and parathyroid oxyphil cells.	CALOHA:TS-1279	mondo.json	parathyroid gland glandular cells|parathyroid gland glandular cell	http://purl.obolibrary.org/obo/CL_1001593		
MONDO:0016876	biolink:Disease	partial deletion of chromosome 11		Orphanet:261816	mondo.json	partial deletion of chromosome type 11|partial monosomy of chromosome 11	http://purl.obolibrary.org/obo/MONDO_0016876	Orphanet:261816	ordo_group_of_disorders|disease_grouping
MONDO:0014216	biolink:Disease	primary ciliary dyskinesia 28	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene.	OMIM:615505|UMLS:C3809706|DOID:0110607	mondo.json	primary ciliary dyskinesia caused by mutation in SPAG1|primary ciliary dyskinesia 28 with or without situs inversus|primary ciliary dyskinesia type 28|ciliary dyskinesia, primary, 28|CILD28|ciliary dyskinesia, primary, 28, with or without situs inversus|SPAG1 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 28	http://purl.obolibrary.org/obo/MONDO_0014216	UMLS:C3809706|https://omim.org/entry/615505|DOID:0110607	
CL:1001592	biolink:Cell	gall bladder glandular cell	Glandular cell of gall bladder epithelium.	CALOHA:TS-1278	mondo.json	gallbladder glandular cell|gall bladder glandular cells|gallbladder glandular cells	http://purl.obolibrary.org/obo/CL_1001592		
MONDO:0016877	biolink:Disease	partial deletion of the long arm of chromosome 12		Orphanet:261821	mondo.json	partial deletion of chromosome 12q|partial monosomy of chromosome 12q|partial deletion of the long arm of chromosome type 12|partial monosomy of the long arm of chromosome 12	http://purl.obolibrary.org/obo/MONDO_0016877	Orphanet:261821	disease_grouping|ordo_group_of_disorders
HGNC:11237	biolink:NamedThing	SPG7			mondo.json		http://identifiers.org/hgnc/11237		
CL:1001591	biolink:Cell	oviduct glandular cell	Glandular cell of oviduct epithelium. Example: peg cells, ciliated cells.	CALOHA:TS-1277	mondo.json	fallopian tube glandular cell|uterine tube glandular cell|fallopian tube glandular cells	http://purl.obolibrary.org/obo/CL_1001591		
MONDO:0016870	biolink:Disease	partial deletion of chromosome 5		Orphanet:261786	mondo.json	partial deletion of chromosome type 5|partial monosomy of chromosome 5	http://purl.obolibrary.org/obo/MONDO_0016870	Orphanet:261786	disease_grouping|ordo_group_of_disorders
CL:1001590	biolink:Cell	epididymis glandular cell	Glandular cell of epididymal epithelium.	CALOHA:TS-1276	mondo.json	epididymis glandular cells|epididymal glandular cell	http://purl.obolibrary.org/obo/CL_1001590		
MONDO:0016871	biolink:Disease	partial deletion of chromosome 6		Orphanet:261791	mondo.json	partial deletion of chromosome type 6|partial monosomy of chromosome 6	http://purl.obolibrary.org/obo/MONDO_0016871	Orphanet:261791	disease_grouping|ordo_group_of_disorders
MONDO:0016872	biolink:Disease	partial deletion of chromosome 7		Orphanet:261796	mondo.json	partial deletion of chromosome type 7|partial monosomy of chromosome 7	http://purl.obolibrary.org/obo/MONDO_0016872	Orphanet:261796	disease_grouping|ordo_group_of_disorders
MONDO:0016873	biolink:Disease	partial deletion of chromosome 8		Orphanet:261801	mondo.json	partial monosomy of chromosome 8|partial deletion of chromosome type 8	http://purl.obolibrary.org/obo/MONDO_0016873	Orphanet:261801	disease_grouping|ordo_group_of_disorders
MONDO:0014211	biolink:Disease	primary ciliary dyskinesia 26	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene.	OMIM:615500|DOID:0110627|UMLS:C3809684	mondo.json	primary ciliary dyskinesia caused by mutation in CFAP298|CILD26|ciliary dyskinesia, primary, 26|ciliary dyskinesia, primary, 26, with or without situs inversus|primary ciliary dyskinesia type 26|CFAP298 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 26|primary ciliary dyskinesia 26 with or without situs inversus	http://purl.obolibrary.org/obo/MONDO_0014211	DOID:0110627|https://omim.org/entry/615500|UMLS:C3809684	
MONDO:0014210	biolink:Disease	intellectual disability-hypotonia-spasticity-sleep disorder syndrome		UMLS:C3809672|OMIM:615493|Orphanet:356996	mondo.json	mental retardation, autosomal recessive type 37|mental retardation, autosomal recessive 37|intellectual disability, autosomal recessive type 37|MRT37|intellectual disability, autosomal recessive 37|mental retardation, autosomal recessive, 37	http://purl.obolibrary.org/obo/MONDO_0014210	https://omim.org/entry/615493|UMLS:C3809672|Orphanet:356996	ordo_disease
MONDO:0041806	biolink:Disease	drug-resistant tuberculosis	Tuberculosis disease caused by Mycobacterium tuberculosis isolate that is resistant to one or more of the antitubercular medications.	SCTID:423709000	mondo.json	drug resistant tuberculosis	http://purl.obolibrary.org/obo/MONDO_0041806	http://identifiers.org/snomedct/423709000	
HGNC:11231	biolink:NamedThing	ATL1			mondo.json		http://identifiers.org/hgnc/11231		
HGNC:13890	biolink:NamedThing	ITCH			mondo.json		http://identifiers.org/hgnc/13890		
HGNC:25964	biolink:NamedThing	RETREG1			mondo.json		http://identifiers.org/hgnc/25964		
MONDO:0022586	biolink:Disease	bone dysplasia Moore type		GARD:0000923	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022586		gard_rare
MONDO:0022587	biolink:Disease	bone dysplasia corpus callosum agenesis		GARD:0000921	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022587		gard_rare
MONDO:0022580	biolink:Disease	blepharo naso facial syndrome van Maldergem type	A syndrome characterized by expressionless facies, thickened facial skin, telecanthus with blepharophimosis, lacrimal duct anomalies, unusual nasal shape, and mild excess interdigital webbing.	GARD:0000902	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022580		gard_rare
GO:1905125	biolink:NamedThing	positive regulation of glucosylceramidase activity	Any process that activates or increases the frequency, rate or extent of glucosylceramidase activity.		mondo.json	up-regulation of glucosylsphingosine beta-D-glucosidase activity|upregulation of beta-glucosylceramidase activity|positive regulation of GlcCer-beta-glucosidase activity|upregulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|positive regulation of beta-glucocerebrosidase activity|upregulation of psychosine hydrolase activity|up regulation of ceramide glucosidase activity|upregulation of glucosylsphingosine beta-glucosidase activity|up regulation of GlcCer-beta-glucosidase activity|upregulation of glucosylcerebrosidase activity|activation of ceramide glucosidase activity|up regulation of beta-glucocerebrosidase activity|up regulation of glucosylsphingosine beta-D-glucosidase activity|up-regulation of glucocerebrosidase activity|positive regulation of beta-glucosylceramidase activity|activation of glucosylsphingosine beta-D-glucosidase activity|upregulation of acid beta-glucosidase activity|positive regulation of ceramide glucosidase activity|activation of GlcCer-beta-glucosidase activity|positive regulation of glucosylsphingosine beta-D-glucosidase activity|positive regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|up-regulation of GlcCer-beta-glucosidase activity|positive regulation of glucosylcerebrosidase activity|upregulation of beta-D-glucocerebrosidase activity|up regulation of glucocerebrosidase activity|up-regulation of glucosylceramidase activity|up-regulation of beta-glucocerebrosidase activity|activation of beta-glucocerebrosidase activity|up regulation of beta-glucosylceramidase activity|up-regulation of glucosphingosine glucosylhydrolase activity|up regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|activation of glucocerebrosidase activity|upregulation of ceramide glucosidase activity|positive regulation of GCase activity|positive regulation of glucocerebrosidase activity|up-regulation of psychosine hydrolase activity|up regulation of glucosylcerebrosidase activity|positive regulation of acid beta-glucosidase activity|upregulation of glucosylsphingosine beta-D-glucosidase activity|up-regulation of beta-glucosylceramidase activity|up regulation of glucosphingosine glucosylhydrolase activity|activation of beta-glucosylceramidase activity|up-regulation of glucosylsphingosine beta-glucosidase activity|up regulation of glucosylceramidase activity|activation of glucosylceramidase activity|up regulation of acid beta-glucosidase activity|activation of glucosphingosine glucosylhydrolase activity|up-regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|activation of D-glucosyl-N-acylsphingosine glucohydrolase activity|positive regulation of beta-D-glucocerebrosidase activity|activation of glucosylcerebrosidase activity|positive regulation of glucosphingosine glucosylhydrolase activity|up regulation of psychosine hydrolase activity|up-regulation of glucosylcerebrosidase activity|upregulation of glucocerebrosidase activity|up regulation of beta-D-glucocerebrosidase activity|upregulation of GlcCer-beta-glucosidase activity|up regulation of glucosylsphingosine beta-glucosidase activity|activation of psychosine hydrolase activity|upregulation of beta-glucocerebrosidase activity|positive regulation of psychosine hydrolase activity|up-regulation of acid beta-glucosidase activity|activation of glucosylsphingosine beta-glucosidase activity|activation of acid beta-glucosidase activity|positive regulation of glucosylsphingosine beta-glucosidase activity|up-regulation of ceramide glucosidase activity|upregulation of glucosphingosine glucosylhydrolase activity|upregulation of glucosylceramidase activity|up-regulation of beta-D-glucocerebrosidase activity|activation of beta-D-glucocerebrosidase activity	http://purl.obolibrary.org/obo/GO_1905125		
GO:0090327	biolink:NamedThing	negative regulation of locomotion involved in locomotory behavior	Any process that decreases the frequency, rate, or extent of the self-propelled movement of a cell or organism from one location to another in a behavioral context; the aspect of locomotory behavior having to do with movement.		mondo.json		http://purl.obolibrary.org/obo/GO_0090327		
GO:0090325	biolink:NamedThing	regulation of locomotion involved in locomotory behavior	Any process that modulates the frequency, rate, or extent of the self-propelled movement of a cell or organism from one location to another in a behavioral context; the aspect of locomotory behavior having to do with movement.		mondo.json		http://purl.obolibrary.org/obo/GO_0090325		
GO:0090326	biolink:NamedThing	positive regulation of locomotion involved in locomotory behavior	Any process that increases the frequency, rate, or extent of the self-propelled movement of a cell or organism from one location to another in a behavioral context; the aspect of locomotory behavior having to do with movement.		mondo.json		http://purl.obolibrary.org/obo/GO_0090326		
HGNC:11326	biolink:NamedThing	SSR4			mondo.json		http://identifiers.org/hgnc/11326		
ENVO:01001088	biolink:NamedThing	aerosolised liquids	An aerosol which has non-gaseous parts that are primarily composed of liquid droplets.		mondo.json	liquid aerosol	http://purl.obolibrary.org/obo/ENVO_01001088		
ENVO:01001087	biolink:NamedThing	formation of a liquid aerosol in an atmosphere	A process during which an aerosol, consisting of droplets of liquid suspended in gas, is formed in an atmosphere.		mondo.json	formation of liquid droplets in an atmosphere|formation of liquid particles in an atmosphere	http://purl.obolibrary.org/obo/ENVO_01001087		
ENVO:01001089	biolink:NamedThing	aerosolised solids	An aerosol which has non-gaseous parts that are primarily composed of solid particles.		mondo.json	solid aerosol	http://purl.obolibrary.org/obo/ENVO_01001089		
ENVO:01001084	biolink:NamedThing	particulate matter formation process	A process during which microscopic solid or liquid objects are formed.		mondo.json	particle formation	http://purl.obolibrary.org/obo/ENVO_01001084		
GO:0090324	biolink:NamedThing	negative regulation of oxidative phosphorylation	Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis.		mondo.json		http://purl.obolibrary.org/obo/GO_0090324		
ENVO:01001086	biolink:NamedThing	formation of a solid aerosol in an atmosphere	A process during which an aerosol, consisting of solid particulates suspended in a gas, is formed in an atmosphere.		mondo.json	formation of solid particles in an atmosphere	http://purl.obolibrary.org/obo/ENVO_01001086		
ENVO:01001085	biolink:NamedThing	atmospheric aerosol formation	An aerosol formation process which occurs in an atmosphere.		mondo.json	atmospheric aerosol formation	http://purl.obolibrary.org/obo/ENVO_01001085		
MONDO:0022572	biolink:Disease	bilateral renal agenesis dominant type		GARD:0000885	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022572		gard_rare
MONDO:0022573	biolink:Disease	biliary atresia intrahepatic non syndromic form		GARD:0000887	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022573		gard_rare
MONDO:0022574	biolink:Disease	biliary atresia intrahepatic syndromic form		GARD:0000888	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022574		gard_rare
MONDO:0022575	biolink:Disease	biliary hypoplasia	A syndromic disease characterised by a small ductal system and reduction in the number of interlobular bile ducts.	GARD:0008383	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022575		gard_rare
MONDO:0022576	biolink:Disease	bilirubin induced brain injury in the newborn		GARD:0009243	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022576		gard_rare
MONDO:0022577	biolink:Disease	Billet bear syndrome	A congenital malformation syndrome characterized by partial duplication of the left lower limb and aplasia of the ipsilateral kidney, plus other congenital malformations.	GARD:0000892	mondo.json	Lower limb partial duplication renal agenesis|billet-bear syndrome	http://purl.obolibrary.org/obo/MONDO_0022577		gard_rare
MONDO:0022578	biolink:Disease	childhood bladder carcinoma	A rare carcinoma of the bladder that occurs during childhood.	UMLS:C3899675|GARD:0009305|NCIT:C118816	mondo.json	childhood bladder cancer|bladder cancer childhood|bladder cancer|bladder carcinoma, childhood|childhood bladder carcinoma|bladder cancer, childhood	http://purl.obolibrary.org/obo/MONDO_0022578	NCIT:C118816|UMLS:C3899675	gard_rare
HGNC:11335	biolink:NamedThing	SSX1			mondo.json		http://identifiers.org/hgnc/11335		
MONDO:0010594	biolink:Disease	obsolete inherited genitourinary tract anomalies		OMIM:305690|MESH:C564424|HP:0000119	mondo.json	genitourinary tract anomalies|inherited genitourinary tract anomalies (disease)	http://purl.obolibrary.org/obo/MONDO_0010594	http://identifiers.org/mesh/C564424|https://omim.org/entry/305690	
MONDO:0010593	biolink:Disease	obsolete Frontometaphyseal dysplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010593		
MONDO:0010596	biolink:Disease	membranoproliferative glomerulonephritis, X-linked		UMLS:C1844501|MESH:C564423|OMIM:305800	mondo.json	membranoproliferative glomerulonephritis, X-linked|Mesangiocapillary glomerulonephritis, X-linked	http://purl.obolibrary.org/obo/MONDO_0010596	UMLS:C1844501|http://identifiers.org/mesh/C564423|https://omim.org/entry/305800	
MONDO:0010595	biolink:Disease	Sertoli cell-only syndrome	Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility. In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome. Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy. Although there is currently no effective treatment, assisted reproductive technology may assist some men with SCO syndrome in being able to have children.	GARD:0008406|ICD9:752.89|SCTID:73465006|MESH:D054331|EFO:1001422|DOID:0050457	mondo.json	Sertoli cell-only syndrome|Del Castillo syndrome|Germinal cell aplasia|DEL CASTILLO syndrome	http://purl.obolibrary.org/obo/MONDO_0010595	http://identifiers.org/mesh/D054331|DOID:0050457|http://identifiers.org/snomedct/73465006	gard_rare
MONDO:0010598	biolink:Disease	glycogen storage disease IXa1	Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes.	GARD:0006538|SCTID:41527003|MESH:C564421|OMIM:306000|SCTID:235908005|MESH:D006015|MedDRA:10053242|DOID:2751|UMLS:C0017927|EFO:1000952|DOID:0111042	mondo.json	GSD9A1|glycogen storage disease type 9A|PHKA2 glycogen storage disease|GSD type 9A|glycogen storage disease VIII, formerly|GSD type IXa|glycogenosis type 8|GSD VIII, formerly|hepatic glycogen phosphorylase kinase deficiency|GSD VIII|glycogen storage disease type IXa|glycogenosis type IXa|glycogen storage disease VIII|glycogenosis type 9A|glycogen storage disease, type IXa2, X-linked recessive|liver glycogenosis, X-linked, type 1|glycogen storage disease IXa|glycogen storage disease, type IXa1, X-linked recessive|hepatic phosphorylase kinase deficiency|glycogen storage disease 8|glycogen storage disease IXa1|phosphorylase kinase deficiency of liver|PYKL|glycogenosis type VIII|GSD9A|PHKA2-related glycogen storage disease type IX|glycogen storage disease caused by mutation in PHKA2|glycogen storage disease type VIII	http://purl.obolibrary.org/obo/MONDO_0010598	DOID:0111042|http://identifiers.org/mesh/C564421|http://identifiers.org/mesh/D006015|DOID:2751|https://omim.org/entry/306000|http://identifiers.org/snomedct/41527003	gard_rare
MONDO:0010597	biolink:Disease	glutamyl ribose-5-phosphate storage disease		UMLS:C1844440|MESH:C564422|OMIM:305920	mondo.json	ADP-ribose Protein hydrolase deficiency|glutamyl ribose-5-phosphate storage disease	http://purl.obolibrary.org/obo/MONDO_0010597	UMLS:C1844440|http://identifiers.org/mesh/C564422|https://omim.org/entry/305920	
NCBITaxon:302011	biolink:OrganismalEntity	Rickettsia conorii subsp. caspia		PMID:15766388|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_302011		
MONDO:0010599	biolink:Disease	granulomas, congenital cerebral		UMLS:C1844406|OMIM:306300|GARD:0008368|MESH:C537294	mondo.json	congenital cerebral granulomas|granulomas, congenital cerebral	http://purl.obolibrary.org/obo/MONDO_0010599	UMLS:C1844406|http://identifiers.org/mesh/C537294|https://omim.org/entry/306300	gard_rare
HGNC:11336	biolink:NamedThing	SSX2			mondo.json		http://identifiers.org/hgnc/11336		
HGNC:13997	biolink:NamedThing	PRDM12			mondo.json		http://identifiers.org/hgnc/13997		
HGNC:13993	biolink:NamedThing	PRDM8			mondo.json		http://identifiers.org/hgnc/13993		
MONDO:0010590	biolink:Disease	FG syndrome 1	Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene.	UMLS:C0220769|OMIM:305450|Orphanet:93932	mondo.json	FG syndrome|Opitz-Kaveggia syndrome|FG syndrome type 1|MED12 FG syndrome|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|Keller syndrome|OKS|FG syndrome caused by mutation in MED12|FG syndrome 1|Opitz-Kaveggia syndrome, X-linked recessive|intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum	http://purl.obolibrary.org/obo/MONDO_0010590	UMLS:C0220769|Orphanet:93932|https://omim.org/entry/305450	
MONDO:0010592	biolink:Disease	focal dermal hypoplasia	A syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.	OMIM:305600|Orphanet:2092|ICD9:757.39|SCTID:205573006|GARD:0006457|DOID:2120|UMLS:C0016395|NCIT:C84715|MESH:D005489	mondo.json	Goltz Gorlin syndrome|Goltz-Gorlin syndrome|Goltz syndrome|focal dermal hypoplasia|focal dermal hypoplasia, X-linked dominant|Fodh|DHOF|FDH	http://purl.obolibrary.org/obo/MONDO_0010592	DOID:2120|http://identifiers.org/mesh/D005489|NCIT:C84715|UMLS:C0016395|Orphanet:2092|http://identifiers.org/snomedct/205573006|https://omim.org/entry/305600	ordo_malformation_syndrome
MONDO:0010591	biolink:Disease	fingerprint body myopathy	Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.	OMIM:305550|Orphanet:97232|UMLS:C1844560|MESH:C564425|GARD:0012720	mondo.json	fingerprint body myopathy	http://purl.obolibrary.org/obo/MONDO_0010591	http://identifiers.org/mesh/C564425|https://omim.org/entry/305550|UMLS:C1844560|Orphanet:97232	ordo_disease|gard_rare
HGNC:25941	biolink:NamedThing	TET2			mondo.json		http://identifiers.org/hgnc/25941		
HGNC:25947	biolink:NamedThing	KLHL24			mondo.json		http://identifiers.org/hgnc/25947		
MONDO:0022566	biolink:Disease	obsolete BEST1 retinopathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022566		gard_rare
MONDO:0022567	biolink:Disease	bhaskar jagannathan syndrome		MESH:C535437|UMLS:C2930901	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022567	http://identifiers.org/mesh/C535437|UMLS:C2930901	
MONDO:0022568	biolink:Disease	bidirectional tachycardia		GARD:0000878|UMLS:C2930902|MESH:C535438	mondo.json	bidirectional ventricular tachycardia	http://purl.obolibrary.org/obo/MONDO_0022568	UMLS:C2930902|http://identifiers.org/mesh/C535438	gard_rare
MONDO:0010579	biolink:Disease	X-linked corneal dermoid	X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.	SCTID:715426004|UMLS:C1844671|MESH:C535376|OMIM:304730|Orphanet:1661|GARD:0002580	mondo.json	dermoids of cornea|corneal dermoids and short stature|Guízar Vázquez-Luengas-muñoz syndrome|bilateral corneal dermoids|CND|corneal dystrophy epithelial-short stature syndrome|Guizar-Vazquez Luengas-Munoz syndrome	http://purl.obolibrary.org/obo/MONDO_0010579	http://identifiers.org/snomedct/715426004|https://omim.org/entry/304730|UMLS:C1844671|Orphanet:1661|http://identifiers.org/mesh/C535376	ordo_disease|gard_rare
MONDO:0009589	biolink:Disease	mesomelic dwarfism-cleft palate-camptodactyly syndrome	Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.	GARD:0003552|MESH:C565404|SCTID:715471007|OMIM:249710|Orphanet:2631	mondo.json	mesomelic dysplasia, Reardon type|Reardon-Hall-Slaney syndrome|mesomelic dysplasia, Kozlowski-Reardon type|mesomelic dwarfism cleft palate camptodactyly|mesomelic limb shortening and bowing	http://purl.obolibrary.org/obo/MONDO_0009589	http://identifiers.org/snomedct/715471007|Orphanet:2631|http://identifiers.org/mesh/C565404|https://omim.org/entry/249710	ordo_malformation_syndrome|gard_rare
MONDO:0009588	biolink:Disease	Langer mesomelic dysplasia	Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.	ICD9:756.59|MESH:C537267|Orphanet:2632|NCIT:C126876|SCTID:38494008|OMIM:249700|UMLS:C0432230|GARD:0003553	mondo.json	dyschondrosteosis, homozygous|mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type|langer mesomelic dysplasia, pseudoautosomal recessive|Langer type mesomelic dysplasia|mesomelic dwarfism, Langer type|mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type|Langer syndrome|Langer mesomelic dysplasia|LMD	http://purl.obolibrary.org/obo/MONDO_0009588	NCIT:C126876|Orphanet:2632|http://identifiers.org/mesh/C537267|UMLS:C0432230|https://omim.org/entry/249700|http://identifiers.org/snomedct/38494008	ordo_malformation_syndrome|gard_rare
GO:1905153	biolink:NamedThing	regulation of membrane invagination	Any process that modulates the frequency, rate or extent of membrane invagination.		mondo.json		http://purl.obolibrary.org/obo/GO_1905153		
MONDO:0009587	biolink:Disease	mesoaxial hexadactyly and cardiac malformation		OMIM:249670|MESH:C563087|UMLS:C0796057	mondo.json	Mexican Cardiomelic dysplasia|mesoaxial hexadactyly and cardiac malformation	http://purl.obolibrary.org/obo/MONDO_0009587	UMLS:C0796057|https://omim.org/entry/249670|http://identifiers.org/mesh/C563087	
GO:1905154	biolink:NamedThing	negative regulation of membrane invagination	Any process that stops, prevents or reduces the frequency, rate or extent of membrane invagination.		mondo.json	downregulation of membrane invagination|inhibition of membrane invagination|down-regulation of membrane invagination|down regulation of membrane invagination	http://purl.obolibrary.org/obo/GO_1905154		
GO:1905155	biolink:NamedThing	positive regulation of membrane invagination	Any process that activates or increases the frequency, rate or extent of membrane invagination.		mondo.json	up-regulation of membrane invagination|up regulation of membrane invagination|activation of membrane invagination|upregulation of membrane invagination	http://purl.obolibrary.org/obo/GO_1905155		
MONDO:0009586	biolink:Disease	mesangial sclerosis, diffuse renal, with ocular abnormalities		MESH:C565405|UMLS:C1855282|OMIM:249660	mondo.json	mesangial sclerosis, diffuse renal, with ocular abnormalities	http://purl.obolibrary.org/obo/MONDO_0009586	http://identifiers.org/mesh/C565405|UMLS:C1855282|https://omim.org/entry/249660	
MONDO:0009585	biolink:Disease	encephalopathy due to beta-mercaptolactate-cysteine disulfiduria		UMLS:C0796055|GARD:0000654|OMIM:249650|Orphanet:1035|MESH:C563085	mondo.json	Beta-mercaptolactate cysteine disulfiduria|3-mercaptopyruvate sulfurtransferase deficiency|disulfiduria, mixed|mercaptolactate-cysteine disulfiduria|Ampola syndrome|MCDU	http://purl.obolibrary.org/obo/MONDO_0009585	UMLS:C0796055|Orphanet:1035|https://omim.org/entry/249650|http://identifiers.org/mesh/C563085	ordo_disease|gard_rare
MONDO:0009584	biolink:Disease	intellectual disability, Buenos-Aires type	Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.	SCTID:725906006|Orphanet:3079|OMIM:249630|GARD:0003485|MESH:C563095|UMLS:C0796080	mondo.json	mental retardation Buenos Aires type|intellectual deficit Buenos-Aires type|Mutchinick syndrome|mental retardation, Buenos Aires type|intellectual disability, Buenos Aires type|intellectual disability Buenos Aires type	http://purl.obolibrary.org/obo/MONDO_0009584	UMLS:C0796080|Orphanet:3079|https://omim.org/entry/249630|http://identifiers.org/mesh/C563095|http://identifiers.org/snomedct/725906006	gard_rare|ordo_malformation_syndrome
MONDO:0022560	biolink:Disease	benign metastasizing leiomyoma	A rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites.The disease develops as a proliferation of multiple nodules composed of smooth muscle cells.The most frequent site of metastasis is the lungs, although other areas may also be affected as well, including some atypical locations, e.g. the heart or spinal cord.	GARD:0010776	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022560		gard_rare
MONDO:0009583	biolink:Disease	blepharophimosis - intellectual disability syndrome, Ohdo type	Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.	SCTID:412787009|Orphanet:2728|ICD9:374.89|OMIM:249620|ICD9:525.8|UMLS:C0796094	mondo.json	Ohdo blepharophimosis syndrome|mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth|Ohdo-Madokoro-Sonoda syndrome|intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth|Ohdo syndrome|blepharophimosis syndrome, Ohdo type|BMRS, Ohdo type	http://purl.obolibrary.org/obo/MONDO_0009583	http://identifiers.org/snomedct/412787009|UMLS:C0796094|Orphanet:2728|https://omim.org/entry/249620	ordo_malformation_syndrome
MONDO:0010583	biolink:Disease	Dyggve-Melchior-Clausen syndrome, X-linked	X-linked form of Dyggve-Melchior-Clausen disease.	OMIM:304950|UMLS:C1844654	mondo.json	Dyggve-Melchior-Clausen disease, X-linked|X-linked Dyggve-Melchior-Clausen disease|Dyggve-Melchior-Clausen syndrome, X-linked	http://purl.obolibrary.org/obo/MONDO_0010583	https://omim.org/entry/304950|UMLS:C1844654	
GO:0090305	biolink:NamedThing	nucleic acid phosphodiester bond hydrolysis	The nucleic acid metabolic process in which the phosphodiester bonds between nucleotides are cleaved by hydrolysis.		mondo.json	nucleic acid cleavage	http://purl.obolibrary.org/obo/GO_0090305		
MONDO:0009582	biolink:Disease	Mietens syndrome	Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.	SCTID:40291001|ICD9:759.89|OMIM:249600|GARD:0003524|Orphanet:2557|MESH:C537444|UMLS:C0265249	mondo.json	intellectual disability syndrome, Mietens-WEBER type|corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation|Mietens-Weber syndrome|mental retardation syndrome, Mietens Weber type|intellectual disability, Mietens-Weber type|mental retardation syndrome, Mietens-WEBER type|intellectual disability syndrome, Mietens Weber type|corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0009582	Orphanet:2557|UMLS:C0265249|http://identifiers.org/mesh/C537444|https://omim.org/entry/249600|http://identifiers.org/snomedct/40291001	ordo_malformation_syndrome
MONDO:0010582	biolink:Disease	obsolete diabetes insipidus, neurohypophyseal type, X-linked inheritance		UMLS:CN074293|OMIM:304900	mondo.json	diabetes insipidus, neurohypophyseal type	http://purl.obolibrary.org/obo/MONDO_0010582	https://omim.org/entry/304900|UMLS:CN074293	
GO:0090303	biolink:NamedThing	positive regulation of wound healing	Any process that increases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury.		mondo.json		http://purl.obolibrary.org/obo/GO_0090303		
MONDO:0009581	biolink:Disease	intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome	Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome is characterised by moderate intellectual deficit, craniofacial dysmorphism (including broad nose with coloboma of the alea nasi, deep-set eyes, prognathism), hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait.	SCTID:722454003|Orphanet:3044|UMLS:C1855303|OMIM:249599|MESH:C537447|GARD:0009811	mondo.json	intellectual disability syndrome, Belgian type|Belgian type mental retardation syndrome|Belgian type intellectual disability syndrome|mental retardation syndrome, Belgian type	http://purl.obolibrary.org/obo/MONDO_0009581	Orphanet:3044|http://identifiers.org/mesh/C537447|http://identifiers.org/snomedct/722454003|UMLS:C1855303|https://omim.org/entry/249599	gard_rare|ordo_malformation_syndrome
MONDO:0010585	biolink:Disease	X-linked hypohidrotic ectodermal dysplasia	An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin.	Orphanet:181|OMIM:305100|GARD:0010427|SCTID:239007005	mondo.json	X-linked anhidrotic ectodermal dysplasia|ectodermal dysplasia, anhidrotic, X-linked|hypohidrotic ectodermal dysplasia, X-linked|ectodermal dysplasia 1|ectodermal dysplasia 1, hypohidrotic, X-linked|Xlhed|Eda1|hypohidrotic ectodermal dysplasia X-linked|CST syndrome|ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive|anhidrotic ectodermal dysplasia X-linked|ectodermal dysplasia 1, hypohidrotic/hair/Tooth type, X-linked|X-linked hypohidrotic ectodermal dysplasia|Christ-Siemens-Touraine syndrome|ectodermal dysplasia, hypohidrotic, 1|XHED	http://purl.obolibrary.org/obo/MONDO_0010585	Orphanet:181|http://identifiers.org/snomedct/239007005|https://omim.org/entry/305100	ordo_etiological_subtype
MONDO:0010584	biolink:Disease	dyskeratosis congenita, X-linked	X-linked form of dyskeratosis congenita.	GARD:0002007|OMIM:305000|DOID:0070025|NCIT:C126352|SCTID:708536001	mondo.json	dyskeratosis congenita, X-linked, X-linked recessive|dyskeratosis congenita X-linked|Zinsser-Cole-Engman syndrome|X-linked dyskeratosis congenita|Hoyeraal Hreidarsson syndrome|DKCX|Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia|cerebellar hypoplasia with pancytopenia|dyskeratosis congenita, X-linked	http://purl.obolibrary.org/obo/MONDO_0010584	NCIT:C126352|http://identifiers.org/snomedct/708536001|DOID:0070025|https://omim.org/entry/305000	
MONDO:0009580	biolink:Disease	intellectual disability, autosomal recessive 1	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene.	MESH:C565406|OMIM:249500|UMLS:C1855304	mondo.json	intellectual disability, autosomal recessive 1|mental retardation, autosomal recessive type 1|autosomal recessive non-syndromic intellectual disability caused by mutation in PRSS12|MRT1|mental retardation, autosomal recessive 1|intellectual disability, autosomal recessive type 1|PRSS12 autosomal recessive non-syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0009580	UMLS:C1855304|http://identifiers.org/mesh/C565406|https://omim.org/entry/249500	
GO:0090304	biolink:NamedThing	nucleic acid metabolic process	Any cellular metabolic process involving nucleic acids.		mondo.json		http://purl.obolibrary.org/obo/GO_0090304		
MONDO:0010587	biolink:Disease	epidermodysplasia verruciformis, X-linked	X-linked form of epidermodysplasia verruciformis.	UMLS:C1844589|MESH:C564430|OMIM:305350	mondo.json	EDVX|EDV2|X-linked epidermodysplasia verruciformis|epidermodysplasia verruciformis, X-linked	http://purl.obolibrary.org/obo/MONDO_0010587	UMLS:C1844589|http://identifiers.org/mesh/C564430|https://omim.org/entry/305350	
MONDO:0010586	biolink:Disease	X-linked Ehlers-Danlos syndrome	Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterised by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive.	OMIM:305200|NCIT:C141423|Orphanet:75497|SCTID:67202007|MESH:C536197|UMLS:C0268341	mondo.json	Ehlers-Danlos syndrome, type V|Ehlers-Danlos syndrome, type 5|Ehlers-Danlos syndrome type 5|Ehlers-Danlos syndrome, X-linked|EDS V|EDS5|EDS 5	http://purl.obolibrary.org/obo/MONDO_0010586	http://identifiers.org/mesh/C536197|NCIT:C141423|UMLS:C0268341|http://identifiers.org/snomedct/67202007|Orphanet:75497	ordo_disease
MONDO:0010589	biolink:Disease	Aarskog-Scott syndrome, X-linked	Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.	Orphanet:915|OMIM:305400|SCTID:14921002|NCIT:C129720|MedDRA:10067148|GARD:0004775|MESH:C535331|OMIM:100050|ICD9:759.89	mondo.json	faciogenital dysplasia|faciodigitogenital syndrome|mental retardation, X-linked, syndromic 16|Aarskog-Scott syndrome, X-linked|Aarskog syndrome, X-linked|Aarskog-Scott syndrome, X-linked recessive|MRXS16, included|mental retardation, X-linked, syndromic 16, included|Aarskog syndrome|faciodigitogenital syndrome, recessive|mental retardation, X-linked syndromic 16, X-linked recessive|Aarskog Scott syndrome|faciogenital dysplasia with attention Deficit-hyperactivity disorder|AAS|Aarskog-Scott syndrome|FGD|Scott Aarskog syndrome|Aarskog-like syndrome|FGDY|Aarskog disease|facio-digito-genital dysplasia	http://purl.obolibrary.org/obo/MONDO_0010589	https://omim.org/entry/305400|NCIT:C129720|http://identifiers.org/mesh/C535331|Orphanet:915|http://identifiers.org/snomedct/14921002	
MONDO:0010588	biolink:Disease	exudative vitreoretinopathy 2, X-linked	Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the NDP gene.	DOID:0111413|MESH:C564428|UMLS:C1844579|OMIM:305390	mondo.json	Fevr, X-linked|EVR2|exudative vitreoretinopathy, familial, 2|Evrx|exudative vitreoretinopathy 2, X-linked|NDP exudative vitreoretinopathy|exudative vitreoretinopathy 2, X-linked, X-linked recessive, X-linked dominant|exudative vitreoretinopathy caused by mutation in NDP	http://purl.obolibrary.org/obo/MONDO_0010588	UMLS:C1844579|DOID:0111413|http://identifiers.org/mesh/C564428|https://omim.org/entry/305390	
HGNC:11303	biolink:NamedThing	SRP72			mondo.json		http://identifiers.org/hgnc/11303		
MONDO:0022559	biolink:Disease	benign angiitis of the central nervous system	A central nervous system vasculitis that has a benign course, with acute onset of neurologic symptoms, usually in the form of severe headache and/or a focal neurologic event.	GARD:0008704	mondo.json	BACNS	http://purl.obolibrary.org/obo/MONDO_0022559		gard_rare
MONDO:0010581	biolink:Disease	diabetes insipidus, nephrogenic, X-linked		OMIM:304800|UMLS:C1563705	mondo.json	diabetes insipidus, nephrogenic, type 1|diabetes insipidus, nephrogenic, 1, X-linked recessive|Ndi|diabetes insipidus, nephrogenic, X-linked	http://purl.obolibrary.org/obo/MONDO_0010581	https://omim.org/entry/304800|UMLS:C1563705	
MONDO:0010580	biolink:Disease	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.	DOID:0090110|GARD:0001850|MESH:C580192|GARD:1850|NCIT:C131009|OMIM:304790|ICD9:250.81|ICD10CM:E31.0|SCTID:237618001|Orphanet:37042	mondo.json	islets of Langerhans, absence of|IPEX syndrome|immunodeficiency, polyendocrinopathy, and enteropathy, X-linked, formerly|XLAAD|diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea|autoimmunity-immunodeficiency syndrome x-linked|IDDM secretory diarrhea syndrome|polyendocrinopathy, immune dysfunction and diarrhea x-linked|immunodeficiency, polyendocrinopathy, and enteropathy, X-linked|Immunodysregulation, polyendocrinopathy and enteropathy X-linked|polyendocrinopathy, immune dysfunction, and diarrhea, X-linked|IPEX|immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome|DMSD|autoimmunity-immunodeficiency syndrome, X-linked|immune dysfunction and diarrhea syndrome|X-linked autoimmunity-allergic dysregulation syndrome|immunodysregulation, polyendocrinopathy, and enteropathy, X-linked|X linked polyendocrinopathy|immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive|autoimmune enteropathy type 1|Iddm-secretory diarrhea syndrome|IDDM-secretory diarrhea syndrome|enteropathy, autoimmune, with hemolytic Anemia and polyendocrinopathy|diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked|IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked|XPID	http://purl.obolibrary.org/obo/MONDO_0010580	NCIT:C131009|Orphanet:37042|DOID:0090110|http://identifiers.org/mesh/C580192|http://identifiers.org/snomedct/237618001|https://omim.org/entry/304790	ordo_disease
MONDO:0022551	biolink:Disease	Basedow's coma	A polygenic and multifactorial disease that develops as a result of a complex interplay between genetic susceptibility and environmental and endogenous factors, which leads to the loss of immune tolerance to thyroid antigens and in particular to the TSH receptor.	GARD:0008177	mondo.json	Coma basedovicum|Karl Adolph von Basedow	http://purl.obolibrary.org/obo/MONDO_0022551		gard_rare
MONDO:0022552	biolink:Disease	Bazopoulou Kyrkanidou syndrome		MESH:C537664|UMLS:C2931580	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022552	http://identifiers.org/mesh/C537664|UMLS:C2931580	
MONDO:0022553	biolink:Disease	BD syndrome		GARD:0000841	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022553		gard_rare
MONDO:0022555	biolink:Disease	Beardwell syndrome		MESH:C537665|UMLS:C2931581	mondo.json	familial ankylosing vertebral hyperostosis with tylosis	http://purl.obolibrary.org/obo/MONDO_0022555	http://identifiers.org/mesh/C537665|UMLS:C2931581	
MONDO:0022556	biolink:Disease	obsolete oculo-cerebral dysplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022556		
MONDO:0022557	biolink:Disease	Behrens Baumann dust syndrome		MESH:C537670|GARD:0004021	mondo.json	Behrens-Baumann-Vogel syndrome|oculo-cerebral dysplasia|unilateral aplasia of the optic nerve with cryptophthalmus and contralateral microphthalmus|microphthalmia-optic nerve dysplasia	http://purl.obolibrary.org/obo/MONDO_0022557	http://identifiers.org/mesh/C537670	gard_rare
MONDO:0010569	biolink:Disease	X-linked complicated corpus callosum dysgenesis	X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.	GARD:0012526|UMLS:C1839909|MESH:C564115|OMIM:304100|Orphanet:1497	mondo.json	corpus callosum, partial agenesis of, X-linked|X-linked partial agenesis of corpus callosum|X-linked complicated corpus callosum agenesis|corpus callosum, partial agenesis of, X-linked recessive|X-linked partial corpus callosum agenesis	http://purl.obolibrary.org/obo/MONDO_0010569	https://omim.org/entry/304100|Orphanet:1497|http://identifiers.org/mesh/C564115|UMLS:C1839909	ordo_clinical_subtype
MONDO:0010568	biolink:Disease	Aicardi syndrome	Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females.	MESH:D058540|Orphanet:50|DOID:8461|UMLS:C0175713|SCTID:80651009|OMIM:304050|GARD:0005764|NCIT:C35256|MedDRA:10054935	mondo.json	Aicardi syndrome, X-linked dominant|agenesis of corpus callosum with chorioretinal abnormality|corpus callosum agenesis of with chorioretinal abnormality|Aicardi syndrome|corpus callosum, agenesis of, with chorioretinal Abnormality|AIC	http://purl.obolibrary.org/obo/MONDO_0010568	http://identifiers.org/mesh/D058540|DOID:8461|https://omim.org/entry/304050|NCIT:C35256|http://identifiers.org/snomedct/80651009|UMLS:C0175713|Orphanet:50	gard_rare|ordo_disease
MONDO:0009599	biolink:Disease	metaphyseal dysostosis-intellectual disability-conductive deafness syndrome	Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.	OMIM:250420|Orphanet:2502|GARD:0003566|MESH:C565396|UMLS:C1855175	mondo.json	metaphyseal dysostosis intellectual disability conductive deafness|metaphyseal dysostosis, conductive hearing loss and mental retardation|metaphyseal dysostosis, conductive hearing loss and intellectual disability|metaphyseal dysostosis, intellectual disability, and conductive deafness|metaphyseal dysostosis, mental retardation, and conductive deafness|metaphyseal dysostosis mental retardation conductive deafness	http://purl.obolibrary.org/obo/MONDO_0009599	https://omim.org/entry/250420|Orphanet:2502|UMLS:C1855175|http://identifiers.org/mesh/C565396	ordo_malformation_syndrome|gard_rare
MONDO:0009598	biolink:Disease	metaphyseal chondrodysplasia-retinitis pigmentosa syndrome		OMIM:250410|UMLS:C1855188|Orphanet:166035|MESH:C565398	mondo.json	brachydactyly-short stature-retinitis pigmentosa syndrome|retinitis pigmentosa with or without skeletal anomalies|RPSKA|metaphyseal chondrodysplasia with retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0009598	https://omim.org/entry/250410|Orphanet:166035|UMLS:C1855188|http://identifiers.org/mesh/C565398	ordo_disease
MONDO:0009597	biolink:Disease	metaphyseal chondrodysplasia, Spahr type		MESH:C537353|Orphanet:2501|UMLS:C0432225|SCTID:254084008|GARD:0003563|OMIM:250400	mondo.json	MDST|metaphyseal dysplasia, Spahr type|metaphyseal chondrodysplasia, Spahr type|Spahr type metaphyseal chondrodysplasia|metaphyseal chondrodysplasia Spahr type	http://purl.obolibrary.org/obo/MONDO_0009597	Orphanet:2501|http://identifiers.org/mesh/C537353|UMLS:C0432225|http://identifiers.org/snomedct/254084008|https://omim.org/entry/250400	ordo_disease
MONDO:0009596	biolink:Disease	metaphyseal chondrodysplasia, Pena type		UMLS:C1855195|OMIM:250300|MESH:C565399	mondo.json	metaphyseal chondrodysplasia, Pena type	http://purl.obolibrary.org/obo/MONDO_0009596	UMLS:C1855195|http://identifiers.org/mesh/C565399|https://omim.org/entry/250300	
MONDO:0009595	biolink:Disease	cartilage-hair hypoplasia	Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.	DOID:14773|NCIT:C61245|MESH:C535916|SCTID:7720002|Orphanet:175|UMLS:C0220748|MedDRA:10069596|GARD:0006996|OMIM:250250	mondo.json	cartilage-hair hypoplasia|cartilage hair hypoplasia like syndrome|metaphyseal chondrodysplasia McKusick type|metaphyseal chondrodysplasia, McKusick type|autosomal recessive metaphyseal chondrodysplasia|cartilage hair hypoplasia|metaphyseal chondrodysplasia, Mckusick type|CHH|McKusick type metaphyseal chondrodysplasia	http://purl.obolibrary.org/obo/MONDO_0009595	http://identifiers.org/snomedct/7720002|Orphanet:175|DOID:14773|NCIT:C61245|http://identifiers.org/mesh/C535916|UMLS:C0220748|https://omim.org/entry/250250	gard_rare|ordo_disease
MONDO:0009594	biolink:Disease	metaphyseal chondrodysplasia, Kaitila type	Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.	Orphanet:166038|OMIM:250230|UMLS:C1855217|MESH:C565400	mondo.json	metaphyseal chondrodysplasia, Kaitila type	http://purl.obolibrary.org/obo/MONDO_0009594	Orphanet:166038|UMLS:C1855217|http://identifiers.org/mesh/C565400|https://omim.org/entry/250230	ordo_disease
MONDO:0010572	biolink:Disease	occipital horn syndrome	Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.	DOID:0111272|GARD:0004017|SCTID:59399004|MESH:C537860|Orphanet:198|OMIM:304150	mondo.json	EDS IX (formerly)|Ehlers-Danlos syndrome, occipital horn type (formerly)|Ehlers-Danlos syndrome, occipital horn type, formerly|Ehlers-Danlos syndrome, occipital horn type|EDS IX, formerly|Ehlers-Danlos syndrome type IX|occipital horn syndrome|OHS|X-linked cutis laxa|EDS9, formerly|EDS9|cutis laxa, X-linked, formerly|Ehlers-Danlos syndrome type 9|EDS IX|cutis laxa X-linked|cutis laxa, X-linked|occipital horn syndrome, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0010572	http://identifiers.org/snomedct/59399004|Orphanet:198|DOID:0111272|http://identifiers.org/mesh/C537860|https://omim.org/entry/304150	ordo_disease
ENVO:01001091	biolink:NamedThing	formation of a liquid aerosol from gaseous material in an atmosphere	A process during which microscopic liquid droplets are formed from gaseous materials in an atmosphere.		mondo.json	formation of a liquid aerosol in an atmosphere|formation of liquid particles from gaseous material in an atmosphere|atmospheric formation of a liquid aerosol|formation of a liquid aerosol in the atmosphere|formation of liquid droplets from gaseous material in an atmosphere	http://purl.obolibrary.org/obo/ENVO_01001091		
GO:0090316	biolink:NamedThing	positive regulation of intracellular protein transport	Any process that activates or increases the frequency, rate or extent of the directed movement of proteins within cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0090316		
MONDO:0010571	biolink:Disease	otopalatodigital syndrome type 2	A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.	GARD:0005802|OMIM:304120|DOID:0111784|MESH:C538089|ICD9:759.89|Orphanet:90652|SCTID:42432003	mondo.json	OPD syndrome 2|FPO|otopalatodigital syndrome, type 2|OPD2|cranioorodigital syndrome|oto-palato-digital syndrome type 2|OPD 2 syndrome|OPD II syndrome|Andre syndrome|cranio-oro-digital syndrome|otopalatodigital syndrome, type II, X-linked dominant|faciopalatoosseous syndrome|otopalatodigital syndrome, type II	http://purl.obolibrary.org/obo/MONDO_0010571	Orphanet:90652|DOID:0111784|http://identifiers.org/snomedct/42432003|http://identifiers.org/mesh/C538089|https://omim.org/entry/304120	ordo_clinical_subtype
MONDO:0009593	biolink:Disease	spondylometaphyseal dysplasia, Sedaghatian type	Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.	OMIM:250220|UMLS:C1855229|MESH:C535798|GARD:0004993|Orphanet:93317	mondo.json	Sedaghatian chondrodysplasia|spondylometaphyseal dysplasia, Sedaghatian type|SMDS|metaphyseal chondrodysplasia, congenital lethal|lethal metaphyseal dysplasia|spondylometaphyseal dysplasia Sedaghatian type	http://purl.obolibrary.org/obo/MONDO_0009593	UMLS:C1855229|http://identifiers.org/mesh/C535798|https://omim.org/entry/250220|Orphanet:93317	gard_rare|ordo_malformation_syndrome
ENVO:01001090	biolink:NamedThing	formation of a solid aerosol from gaseous material in an atmosphere	A process during which microscopic solid particulates are formed from gaseous materials in an atmosphere.		mondo.json	formation of a solid aerosol in the atmosphere|formation of a solid aerosol in an atmosphere|formation of solid particles from gaseous material in an atmosphere|atmospheric formation of a solid aerosol	http://purl.obolibrary.org/obo/ENVO_01001090		
GO:0090317	biolink:NamedThing	negative regulation of intracellular protein transport	Any process that decreases the frequency, rate or extent of the directed movement of proteins within cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0090317		
MONDO:0009592	biolink:Disease	metaphyseal acroscyphodysplasia	Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.	GARD:0003519|MESH:C537350|UMLS:C1855243|OMIM:250215|Orphanet:1240	mondo.json	cupped metaphyses and cone-Shaped epiphyses of knees with brachydactyly|intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome|Bellini Chiumello Rimoldi syndrome|Bellini syndrome|metaphyseal acroscyphodysplasia|wedge-shaped epiphyses of the knees with mental retardation and short stature|wedge-shaped epiphyses of knees|wedge-shaped epiphyses of the knees with intellectual disability and short stature|wedge-Shaped epiphyses of knees	http://purl.obolibrary.org/obo/MONDO_0009592	http://identifiers.org/mesh/C537350|Orphanet:1240|UMLS:C1855243|https://omim.org/entry/250215	gard_rare|ordo_disease
MONDO:0010574	biolink:Disease	syndromic X-linked intellectual disability 5	X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.	Orphanet:85329|DOID:0060800|OMIM:304340|UMLS:CN206181|Orphanet:85335|UMLS:C0796254|Orphanet:1568|NCIT:C124839|SCTID:719139003|GARD:0008520	mondo.json	intellectual disability, X-linked 59|MRXS21|X-linked intellectual disability 59|X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures|mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures|intellectual disability, X-linked, syndromic 21|mental retardation, X-linked 59|intellectual disability, X-linked, syndromic 5|syndromic X-linked intellectual disability type 5|X-linked mental retardation 59|Pettigrew syndrome, X-linked recessive|PGS|intellectual disability, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures|mental retardation, X-linked, syndromic 21|intellectual disability, X-linked, syndromic, fried type|X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome|intellectual disability X-linked with Dandy-Walker malformation basal ganglia disease and seizures|syndromic X-linked mental retardation 21|syndromic X-linked intellectual disability 21|MRX59|mental retardation X-linked syndromic 5|syndromic X-linked intellectual disability fried type|mental retardation, X-linked, syndromic 5|syndromic X-linked mental retardation fried type|intellectual disability, X-linked syndromic 5|mental retardation, X-linked syndromic 5|fried syndrome|Pettigrew syndrome|mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures|PETTIGREW syndrome|mental retardation, X-linked, syndromic, fried type|MRXS5|Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures|X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - seizures|X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome|intellectual disability X-linked syndromic 5	http://purl.obolibrary.org/obo/MONDO_0010574	http://identifiers.org/snomedct/719139003|https://omim.org/entry/304340|Orphanet:1568|Orphanet:85329|UMLS:CN206181|DOID:0060800|NCIT:C124839|UMLS:C0796254	ordo_malformation_syndrome
HGNC:11311	biolink:NamedThing	SRY			mondo.json		http://identifiers.org/hgnc/11311		
MONDO:0009591	biolink:Disease	metachromatic leukodystrophy, juvenile form	Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.	OMIM:250100|SCTID:238031009|Orphanet:309263|GARD:0004545|GARD:0003230	mondo.json	MLD|ARSA deficiency|metachromatic leukodystrophy, late infantile|arylsulfatase A deficiency|leukodystrophy metachromatic|sulfatide lipidosis|metachromatic leukoencephalopathy|metachromatic leukodystrophy, juvenile|cerebral sclerosis, diffuse, metachromatic form|metachromatic leukodystrophy, adult|cerebroside sulfatase deficiency|metachromatic leukodystrophy|MLD, juvenile form|cerebral sclerosis diffuse metachromatic form|metachromatic leukodystrophy, juvenile form|pseudoarylsulfatase A deficiency|Mld|arylsulfatase A deficiency, juvenile form	http://purl.obolibrary.org/obo/MONDO_0009591	http://identifiers.org/snomedct/238031009|Orphanet:309263|https://omim.org/entry/250100	gard_rare|ordo_clinical_subtype
MONDO:0010573	biolink:Disease	cutis verticis gyrata, thyroid aplasia, and intellectual disability		GARD:0000578|UMLS:CN237776|Orphanet:79482|MESH:C535610|OMIM:304200	mondo.json	cutis verticis gyrata, thyroid aplasia, and intellectual disability|cutis verticis gyrata, thyroaplasia and mental deficiency syndrome|cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome|Akesson syndrome|cutis verticis gyrata-thyroid aplasia-mental retardation syndrome|cutis verticis gyrata, thyroid aplasia, and mental retardation	http://purl.obolibrary.org/obo/MONDO_0010573	https://omim.org/entry/304200|UMLS:CN237776|http://identifiers.org/mesh/C535610|Orphanet:79482	
MONDO:0010576	biolink:Disease	X-linked mixed hearing loss with perilymphatic gusher	X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss.	DOID:10003|GARD:0004504|Orphanet:383|EFO:1001176|OMIM:304400|GARD:0001694|ICD9:389.14|ICD9:389.1|MedDRA:10040016|UMLS:C1844678|ICD9:389.10	mondo.json	high-frequency hearing loss|X-linked mixed conductive and neurosensory hearing loss|deafness, X-linked 2|DFN3|deafness, X-linked type 2|perceptive hearing loss|deafness mixed with perilymphatic gusher, X-linked|sensorineural deafness|sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental Abnormality of the Ear|deafness mixed with perilymphatic gusher|DFN 3 nonsyndromic hearing loss and deafness|perceptive deafness|sensorineural hearing loss|deafness 3, conductive, with stapes fixation|central hearing loss|conductive deafness with stapes fixation|deafness, mixed, with perilymphatic gusher|perceptive hearing loss or deafness|DFNX2|deafness 3 conductive with stapes fixation|Nance deafness|X-linked deafness type 2|deafness, conductive, with stapes fixation|X-linked mixed conductive and sensorineural deafness|deafness, X-linked 2, X-linked recessive|high frequency hearing loss|deafness conductive with stapes fixation|X-linked stapes gusher syndrome|X-linked mixed deafness with perilymphatic gusher|gusher syndrome|X-linked mixed conductive and neurosensory deafness|perilymphatic gusher-deafness syndrome|high frequency deafness|X-linked mixed conductive and sensorineural hearing loss|sensory hearing loss	http://purl.obolibrary.org/obo/MONDO_0010576	https://omim.org/entry/304400|UMLS:C1844678|Orphanet:383	gard_rare|ordo_clinical_subtype
MONDO:0009590	biolink:Disease	metachromatic leukodystrophy due to saposin b deficiency		OMIM:249900|SCTID:68390005|GARD:0010674|UMLS:C0268262|MESH:C562609	mondo.json	saposin B deficiency|metachromatic leukodystrophy due to saposin b deficiency|metachromatic leukodystrophy due to sap-b deficiency|metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency	http://purl.obolibrary.org/obo/MONDO_0009590	http://identifiers.org/snomedct/68390005|https://omim.org/entry/249900|http://identifiers.org/mesh/C562609|UMLS:C0268262	gard_rare
MONDO:0010575	biolink:Disease	deafness-hypogonadism syndrome	This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior.	MESH:C564435|Orphanet:90646|GARD:0001691|OMIM:304350	mondo.json	deafness-hypogonadism syndrome|deafness hypogonadism syndrome|DHS	http://purl.obolibrary.org/obo/MONDO_0010575	https://omim.org/entry/304350|Orphanet:90646|http://identifiers.org/mesh/C564435	ordo_malformation_syndrome|gard_rare
MONDO:0010578	biolink:Disease	deafness dystonia syndrome	An X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.	GARD:0008331|ICD9:759.89|DOID:0050757|UMLS:C0796074|SCTID:702423009|OMIM:304700|MESH:C535808|Orphanet:52368	mondo.json	MTS|deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency|deafness dystonia optic neuronopathy syndrome (DDON)|deafness-dystonia-optic neuronopathy syndrome|deafness dystonia syndrome|DDP|DDON syndrome|Mohr-Tranebjaerg syndrome|deafness dystonia optic neuronopathy syndrome|deafness-dystonia-optic neuronopathy (DDON) syndrome|Mohr-Tranebjaerg syndrome, X-linked recessive|deafness dystonia optic atrophy syndrome|dystonia-deafness syndrome|dystonia deafness syndrome|deafness - dystonia - optic neuronopathy syndrome|deafness-Dystonia-optic atrophy syndrome|MOHR-Tranebjaerg syndrome	http://purl.obolibrary.org/obo/MONDO_0010578	https://omim.org/entry/304700|DOID:0050757|http://identifiers.org/mesh/C535808|Orphanet:52368|http://identifiers.org/snomedct/702423009|UMLS:C0796074	clingen|ordo_disease
MONDO:0010577	biolink:Disease	hearing loss, X-linked 1		DOID:0111739|MESH:C564433|OMIM:304500|UMLS:C1844677	mondo.json	deafness, X-linked type 1|deafness, X-linked 1|deafness, X-linked 2, sensorineural congenital|DFNX1	http://purl.obolibrary.org/obo/MONDO_0010577	https://omim.org/entry/304500|UMLS:C1844677|DOID:0111739|http://identifiers.org/mesh/C564433	
MONDO:0010570	biolink:Disease	craniofrontonasal syndrome	An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.	GARD:0001578|SCTID:715421009|MESH:C536456|DOID:14737|Orphanet:1520|OMIM:304110|UMLS:C0220767	mondo.json	craniofrontonasal syndrome|craniofrontonasal dysplasia, X-linked dominant|CFNS|craniofrontonasal dysostosis|CFND|craniofrontonasal dysplasia	http://purl.obolibrary.org/obo/MONDO_0010570	Orphanet:1520|http://identifiers.org/mesh/C536456|DOID:14737|http://identifiers.org/snomedct/715421009|UMLS:C0220767|https://omim.org/entry/304110	ordo_malformation_syndrome
ENVO:01001048	biolink:NamedThing	sediment environment	An environmental system which has its properties and dynamics determined by sediment.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001048		
CHR:9606-chr22q1	biolink:NamedThing	22q1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr22q1		
ENVO:01001044	biolink:NamedThing	soil environment	An environmental system which has its properties and dynamics determined by soil.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001044		
ENVO:01001040	biolink:NamedThing	saline environment	An environment which is determined by materials which bear significant concentrations of salts.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001040		
GO:0090368	biolink:NamedThing	regulation of ornithine metabolic process	Any process that modulates the rate, frequency, or extent of the chemical reactions and pathways involving ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis.		mondo.json		http://purl.obolibrary.org/obo/GO_0090368		
HGNC:25928	biolink:NamedThing	WDR73			mondo.json		http://identifiers.org/hgnc/25928		
ENVO:01001069	biolink:NamedThing	metallic material	A material which is composed primarily of one or more pure metals and which shows their properties.		mondo.json	metal	http://purl.obolibrary.org/obo/ENVO_01001069		
HGNC:25902	biolink:NamedThing	POMGNT2			mondo.json		http://identifiers.org/hgnc/25902		
HP:0001507	biolink:PhenotypicFeature	Growth abnormality		UMLS:C0262361	mondo.json	Growth issue|Abnormal growth|Growth abnormality	http://purl.obolibrary.org/obo/HP_0001507		
HP:0001508	biolink:PhenotypicFeature	Failure to thrive	Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.	UMLS:C2315100|SNOMEDCT_US:36440009|SNOMEDCT_US:432788009|UMLS:C0231246	mondo.json	Poor weight gain|Undergrowth|Postnatal failure to thrive|Weight faltering|Faltering weight	http://purl.obolibrary.org/obo/HP_0001508		
MONDO:0034556	biolink:Disease	vibratory angioedema	Vibratory angioedema is a rare, inherited or sporadic, urticaria characterized by localized, typically long-lasting (hours to days), initially pruritic, painful, normocutaneous or erythematous, mucosal and/or cutaneous edema which is triggered by vibration. Laryngeal snoring-induced swelling may be life-threatening.	OMIM:125630|Orphanet:493348	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034556	Orphanet:493348	ordo_disorder
ENVO:01001068	biolink:NamedThing	meteoroid	An astronomical body which is composed of rocky or metallic materials and is considerably smaller than asteroids.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001068		
MONDO:0022598	biolink:Disease	brachydactyly absence of distal phalanges		GARD:0000961	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022598		gard_rare
MONDO:0022599	biolink:Disease	brachydactyly anonychia		GARD:0000962	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022599		gard_rare
GO:0090358	biolink:NamedThing	positive regulation of tryptophan metabolic process	Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid.		mondo.json	positive regulation of tryptophan metabolism	http://purl.obolibrary.org/obo/GO_0090358		
HP:0001513	biolink:PhenotypicFeature	Obesity	Accumulation of substantial excess body fat.	SNOMEDCT_US:414915002|SNOMEDCT_US:414916001|MSH:D009765|UMLS:C0028754	mondo.json	Obesity|Having too much body fat	http://purl.obolibrary.org/obo/HP_0001513		
HP:0001510	biolink:PhenotypicFeature	Growth delay	A deficiency or slowing down of growth pre- and postnatally.	UMLS:C0878787|SNOMEDCT_US:276617005|UMLS:C0151686|SNOMEDCT_US:444896005|UMLS:C1837385|UMLS:C0456070|UMLS:C3552463|SNOMEDCT_US:59576002	mondo.json	Growth retardation|Growth delay|Retarded growth|Poor growth|Delayed growth|Growth deficiency|Very poor growth|Growth failure	http://purl.obolibrary.org/obo/HP_0001510		
ENVO:01001055	biolink:NamedThing	environment associated with an animal part or small animal	An environmental system determined by part of a living or dead animal, or a whole small animal.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001055		
ENVO:01001054	biolink:NamedThing	non-saline aerosol environment	An environmental system which has its properties and dynamics determined by an aerosol with a low concentration of dissolved solutes.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001054		
ENVO:01001057	biolink:NamedThing	environment associated with a plant part or small plant	An environmental system determined by part of a living or dead plant, or a whole small plant.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001057		
GO:0090357	biolink:NamedThing	regulation of tryptophan metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid.		mondo.json	regulation of tryptophan metabolism	http://purl.obolibrary.org/obo/GO_0090357		
ENVO:01001053	biolink:NamedThing	saline aerosol environment	An environmental system which has its properties and dynamics determined by a saline aerosol.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001053		
ENVO:01001052	biolink:NamedThing	aerosol environment	An environmental system which has its properties and dynamics determined by an aerosol.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001052		
UBERON:0018146	biolink:AnatomicalEntity	transverse process of lumbar vertebra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018146		
UBERON:0018144	biolink:AnatomicalEntity	cervical rib			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018144		
UBERON:0018145	biolink:AnatomicalEntity	lumbar rib			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018145		
MONDO:0009529	biolink:Disease	pyruvate dehydrogenase E3 deficiency	Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.	SCTID:29914000|UMLS:CN043137|UMLS:C0268193|Orphanet:2394|GARD:0003263|OMIM:246900	mondo.json	DLDD|dihydrolipoamide dehydrogenase deficiency|pyruvate dehydrogenase E3 deficiency|lipoamide dehydrogenase deficiency, lactic acidosis due to|maple syrup urine disease, type III|E3-deficient maple syrup urine disease|DLD deficiency|Dld deficiency|maple syrup urine disease, type 3|E3 deficiency	http://purl.obolibrary.org/obo/MONDO_0009529	https://omim.org/entry/246900|Orphanet:2394|UMLS:CN043137|http://identifiers.org/snomedct/29914000|UMLS:C0268193	ordo_clinical_subtype
UBERON:0018142	biolink:AnatomicalEntity	caudal vertebra endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018142		
MONDO:0022500	biolink:Disease	arthrogryposis multiplex congenita CNS calcification	A syndrome characterized by congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death, as well as extensive deposits of calcium compounds in the nervous system and of skeletal muscle.	GARD:0000785	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022500		gard_rare
MONDO:0009528	biolink:Disease	chylomicron retention disease	Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.	GARD:0009683|UMLS:C0795956|SCTID:702364003|DOID:0060357|Orphanet:71|MESH:C535460|OMIM:246700	mondo.json	CMRD|hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells|hypobetalipoproteinemia with accumulation of apolipoprotein B-like Protein in intestinal cells|chylomicron retention disease|CRD|Anderson disease|lipid Transport defect of intestine	http://purl.obolibrary.org/obo/MONDO_0009528	UMLS:C0795956|http://identifiers.org/mesh/C535460|DOID:0060357|http://identifiers.org/snomedct/702364003|Orphanet:71|https://omim.org/entry/246700	ordo_disease|gard_rare
UBERON:0018143	biolink:AnatomicalEntity	transverse process of cervical vertebra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018143		
MONDO:0009527	biolink:Disease	lipase deficiency, combined	A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders.	Orphanet:535453|UMLS:C1855498|OMIM:246650|GARD:0010244|DOID:0111422|MESH:C535904|NCIT:C126558	mondo.json	lipase deficiency combined|combined lipase deficiency|LPL and HTGL deficiency|lipase deficiency, combined|lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency|LPL and HL deficiency	http://purl.obolibrary.org/obo/MONDO_0009527	UMLS:C1855498|DOID:0111422|NCIT:C126558|http://identifiers.org/mesh/C535904|https://omim.org/entry/246650|Orphanet:535453	gard_rare|ordo_etiological_subtype
UBERON:0018140	biolink:AnatomicalEntity	mammary lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018140		
MONDO:0009526	biolink:Disease	fibular aplasia, tibial campomelia, and oligosyndactyly syndrome		MESH:C565436|GARD:0002622|OMIM:246570|UMLS:C1855499|UMLS:CN776928|Orphanet:480773	mondo.json	limb deficiency-heart malformation syndrome|FATCO syndrome|fibular aplasia, tibial campomelia, and oligosyndactyly syndrome|terminal transverse defects of the limbs associated with congenital heart malformations|fibular aplasia-tibial campomelia-oligosyndactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0009526	http://identifiers.org/mesh/C565436|UMLS:C1855499|UMLS:CN776928|https://omim.org/entry/246570	ordo_malformation_syndrome
MONDO:0009525	biolink:Disease	split hand-foot malformation 3	The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.	MESH:C565437|NCIT:C75121|DOID:0090025|SCTID:722429003|Orphanet:1307|GARD:0003252|OMIM:246560	mondo.json	split-hand/foot malformation 3, gene duplication syndrome|split hand-foot malformation type 3|split-hand/foot malformation type 3|chromosome 10Q24 Duplication syndrome|chromosome 10q24 duplication syndrome|10q24 microduplication syndrome|SHFM3|Buttiens-Fryns syndrome|distal limb deficiencies with micrognathia|Buttiens Fryns syndrome|distal limb deficiencies-micrognathia syndrome|limb deficiencies, distal, with micrognathia|limb deficiencies distal with micrognathia|split hand-foot malformation 3|split-hand/foot malformation 3|Shsf3	http://purl.obolibrary.org/obo/MONDO_0009525	Orphanet:1307|NCIT:C75121|http://identifiers.org/mesh/C565437|DOID:0090025|http://identifiers.org/snomedct/722429003|https://omim.org/entry/246560	gard_rare|ordo_malformation_syndrome
MONDO:0010514	biolink:Disease	combined immunodeficiency due to moesin deficiency		OMIM:300988|UMLS:C4310812|Orphanet:504530	mondo.json	immunodeficiency type 50|MSN-related combined immunodeficiency|immunodeficiency 50, X-linked recessive|immunodeficiency 50|Cid due to Moesin deficiency|IMD50|X-linked Moesin-associated immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0010514	https://omim.org/entry/300988|Orphanet:504530|UMLS:C4310812	ordo_disease
MONDO:0009524	biolink:Disease	intellectual disability-spasticity-ectrodactyly syndrome	Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).	Orphanet:1891|UMLS:C0796001|SCTID:763743003|GARD:0003523|MESH:C537446|OMIM:246555	mondo.json	limb defects, distal transverse, with intellectual disability and spasticity|mental retardation, spasticity and transverse limb defects|mental retardation spasticity ectrodactyly|ectrodactyly, spastic paraplegia and intellectual disability|limb defects, distal transverse, with mental retardation and spasticity|intellectual disability spasticity ectrodactyly|Jancar syndrome|ectrodactyly, spastic paraplegia and mental retardation|intellectual disability, spasticity and transverse limb defects	http://purl.obolibrary.org/obo/MONDO_0009524	http://identifiers.org/mesh/C537446|Orphanet:1891|http://identifiers.org/snomedct/763743003|https://omim.org/entry/246555|UMLS:C0796001	ordo_malformation_syndrome|gard_rare
MONDO:0010513	biolink:Disease	obsolete intellectual disability, X-linked, syndromic, Borck type			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010513		
MONDO:0009523	biolink:Disease	Lichtenstein syndrome	Lichstenstein syndrome is characterised by frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive.	SCTID:763668009|Orphanet:2390|OMIM:246550|GARD:0003248|MESH:C535894|UMLS:C1855502	mondo.json	Lichtenstein syndrome|neutropenia immunoglobulin deficiency peculiar facies and bony anomalies	http://purl.obolibrary.org/obo/MONDO_0009523	Orphanet:2390|http://identifiers.org/snomedct/763668009|UMLS:C1855502|http://identifiers.org/mesh/C535894|https://omim.org/entry/246550	gard_rare|ordo_disease
MONDO:0010516	biolink:Disease	midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		OMIM:300990|UMLS:C4310810	mondo.json	midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis; MFHIEN|midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, X-linked recessive|midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis|MFHIEN	http://purl.obolibrary.org/obo/MONDO_0010516	https://omim.org/entry/300990|UMLS:C4310810	
MONDO:0009522	biolink:Disease	Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome	Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.	OMIM:246500|Orphanet:1816|SCTID:239032007|MESH:C565440|UMLS:C1855504|UMLS:C0406729	mondo.json	ectodermal dysplasia, Berlin type|Berlin syndrome|LEUKOMELANODERMA, infantilism, mental retardation, hypodontia, hypotrichosis|LEUKOMELANODERMA, infantilism, intellectual disability, hypodontia, hypotrichosis	http://purl.obolibrary.org/obo/MONDO_0009522	http://identifiers.org/snomedct/239032007|UMLS:C0406729|Orphanet:1816|http://identifiers.org/mesh/C565440|UMLS:C1855504|https://omim.org/entry/246500	ordo_malformation_syndrome
MONDO:0010515	biolink:Disease	Meester-Loeys syndrome		OMIM:300989|UMLS:C4310811	mondo.json	Meester-Loeys syndrome|Meester-Loeys syndrome; MRLS|MRLS	http://purl.obolibrary.org/obo/MONDO_0010515	https://omim.org/entry/300989|UMLS:C4310811	
MONDO:0010518	biolink:Disease	Wiskott-Aldrich syndrome	Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.	Orphanet:906|MedDRA:10047992|ICD10CM:D82.0|OMIM:301000|ICD9:279.12|DOID:9169|GARD:0007895|NCIT:C3448|MESH:D014923|SCTID:36070007|UMLS:C0043194	mondo.json	WAS|Imd 2|Wiskott syndrome|Wiskott-Aldrich syndrome|Wiskott Aldrich syndrome|eczema-thrombocytopenia-immunodeficiency syndrome|immunodeficiency 2|Wiskott-Aldrich syndrome, X-linked recessive|Aldrich syndrome|Wiskott-Aldrich syndrome 1|eczema thrombocytopenia immunodeficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0010518	http://identifiers.org/mesh/D014923|https://omim.org/entry/301000|Orphanet:906|DOID:9169|http://identifiers.org/snomedct/36070007|http://purl.bioontology.org/ontology/ICD10CM/D82.0|NCIT:C3448|UMLS:C0043194	ordo_disease|gard_rare
MONDO:0009521	biolink:Disease	leukemia, acute myelocytic, with polyposis coli and colon cancer		UMLS:C1855505|MESH:C565441|OMIM:246470	mondo.json	leukemia, acute myelocytic, with polyposis coli and colon cancer	http://purl.obolibrary.org/obo/MONDO_0009521	http://identifiers.org/mesh/C565441|UMLS:C1855505|https://omim.org/entry/246470	
MONDO:0010517	biolink:Disease	ciliary dyskinesia, primary, 36, X-linked	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene.	OMIM:300991|UMLS:CN240511|UMLS:C4478372	mondo.json	ciliary dyskinesia, primary, 36, X-linked|CILD36|ciliary dyskinesia, primary, 36, with or without situs inversus|PIH1D3 primary ciliary dyskinesia|ciliary dyskinesia, primary, 36, X-linked; CILD36|primary ciliary dyskinesia caused by mutation in PIH1D3|ciliary dyskinesia, primary, 36, X-linked, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0010517	UMLS:C4478372|UMLS:CN240511|https://omim.org/entry/300991	
MONDO:0009520	biolink:Disease	3-hydroxy-3-methylglutaric aciduria	3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.	UMLS:C1533587|SCTID:410059004|UMLS:C0268601|OMIM:246450|MESH:C538324|NCIT:C84523|Orphanet:20|GARD:0008387	mondo.json	Hydroxymethylglutaric aciduria|HL deficiency|3-hydroxy-3-methylglutaryl-CoA lyase deficiency|HMG CoA lyase deficiency|HMGCLD|defect in leucine metabolism|HMG-CoA lyase deficiency|3-OH 3-Methyl glutaric aciduria|Hmgcl deficiency|deficiency of hydroxymethylglutaryl-CoA lyase|hydroxymethylglutaryl-CoA lyase deficiency|3-hydroxy-3-methylglutaric aciduria|HMG-Coa lyase deficiency	http://purl.obolibrary.org/obo/MONDO_0009520	https://omim.org/entry/246450|Orphanet:20|NCIT:C84523|http://identifiers.org/snomedct/410059004|UMLS:C1533587|UMLS:C0268601|http://identifiers.org/mesh/C538324	ordo_disease
MONDO:0010519	biolink:Disease	alpha thalassemia-X-linked intellectual disability syndrome	X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.	OMIM:301040|Orphanet:847|NCIT:C118631|SCTID:715342005|UMLS:C1845055|GARD:0005864|ICD10CM:D56.0|MESH:C538258|DOID:0110030	mondo.json	Alpha-thalassemia/intellectual disability syndrome, Nondeletion type|ALPHA-thalassemia/mental retardation syndrome, X-linked|ATR, Nondeletion type|ATRX|ATR-X syndrome|alpha-thalassemia/mental retardation syndrome, X-linked dominant|alpha-thalassemia/mental retardation syndrome nondeletion type|ATR, nondeletion type|Alpha thalassemia/mental retardation syndrome X-linked|alpha thalassemia-X-linked intellectual disability syndrome|ALPHA-thalassemia/intellectual disability syndrome, X-linked|Alpha thalassemia/intellectual disability syndrome X-linked|alpha-thalassemia/intellectual disability syndrome nondeletion type|Alpha thalassemia X-linked mental retardation syndrome|Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked|XLMR hypotonic face syndrome|Alpha-thalassemia x-linked intellectual disability syndrome|Alpha thalassemia intellectual disability syndrome, nondeletion type, X-linked|Alpha thalassemia X-linked intellectual disability syndrome|Alpha-thalassemia/mental retardation syndrome, Nondeletion type|ATRX syndrome|Alpha-thalassemia-X-linked intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0010519	https://omim.org/entry/301040|DOID:0110030|Orphanet:847|http://identifiers.org/snomedct/715342005|UMLS:C1845055|http://identifiers.org/mesh/C538258|NCIT:C118631	ordo_disease|do_inheritance_inconsistent|gard_rare
UBERON:0018149	biolink:AnatomicalEntity	angle of oral opening			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018149		
HGNC:2032	biolink:NamedThing	CLDN1			mondo.json		http://identifiers.org/hgnc/2032		
NCBITaxon:53549	biolink:OrganismalEntity	Sabethini		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_53549		
HGNC:13902	biolink:NamedThing	SERPINB7			mondo.json		http://identifiers.org/hgnc/13902		
MONDO:0010521	biolink:Disease	amelogenesis imperfecta type 1E	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMELX gene.	GARD:0009943|OMIM:301200|DOID:0110058	mondo.json	AIH1|amelogenesis imperfecta caused by mutation in AMELX|amelogenesis imperfecta, X-linked 1|X-linked enamel hypoplasia|AI1E|amelogenesis imperfecta, type IE|enamel hypoplasia, X-linked|amelogenesis imperfecta, hypomaturation type, with Snow-capped teeth|amelogenesis imperfecta, type 1E, X-linked dominant|amelogenesis imperfecta hypomaturationtype with snow-capped teeth|amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1|amelogenesis imperfecta, type 1E|X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1|amelogenesis imperfecta type IE|amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1|enamel hypoplasia X-linked|amelogenesis imperfecta X-linked 1|X-linked amelogenesis imperfecta 1|AMELX amelogenesis imperfecta	http://purl.obolibrary.org/obo/MONDO_0010521	DOID:0110058|https://omim.org/entry/301200	gard_rare
MONDO:0010520	biolink:Disease	X-linked Alport syndrome	X-linked form of Alport syndrome.	GARD:0005785|DOID:0110034|SCTID:717768004|OMIM:301050|MedDRA:10001843|Orphanet:88917	mondo.json	hemorrhagic familial nephritis|congenital hereditary hematuria|nephropathy and deafness, X-linked|Alport syndrome, X-linked|hemorrhagic hereditary nephritis|ATS|X-linked Alport syndrome|Alport syndrome 1, X-linked, X-linked dominant	http://purl.obolibrary.org/obo/MONDO_0010520	Orphanet:88917|http://identifiers.org/snomedct/717768004|https://omim.org/entry/301050|DOID:0110034	ordo_etiological_subtype
CL:0008007	biolink:Cell	visceral muscle cell	A muscle cell that is part of some visceral muscle		mondo.json		http://purl.obolibrary.org/obo/CL_0008007		
MONDO:0010523	biolink:Disease	X-linked reticulate pigmentary disorder	X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.	MESH:C564461|SCTID:717224002|ICD10EXP:L99.0*|Orphanet:85453|ICD10EXP:E85.0+|OMIM:301220	mondo.json	amyloidosis, familial cutaneous|PDR|pigmentary disorder, reticulate, with systemic manifestations, X-linked, X-linked recessive|pigmentary disorder, reticulate, with systemic manifestations|XLPDR|pigmentary disorder, reticulate, with systemic manifestations, X-linked|Partington disease|familial cutaneous amyloidosis|X-linked cutaneous amyloidosis	http://purl.obolibrary.org/obo/MONDO_0010523	http://identifiers.org/mesh/C564461|http://identifiers.org/snomedct/717224002|Orphanet:85453|https://omim.org/entry/301220	ordo_disease
CL:0008008	biolink:Cell	striated visceral muscle cell	A visceral muscle cell that is striated.  Examples include the visceral muscle cells of arhtropods.		mondo.json		http://purl.obolibrary.org/obo/CL_0008008		
MONDO:0010522	biolink:Disease	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2	An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region.	UMLS:C1845051|GARD:0009944|DOID:0110059|OMIM:301201	mondo.json	amelogenesis imperfecta 3, hypoplastic type|AIH3 (formerly)|amelogenesis imperfecta 3 hypoplastic type|X-linked enamel hypoplasia|amelogenesis imperfecta, type IE, X-linked 2|amelogenesis imperfecta type IE X-linked 2|enamel hypoplasia, X-linked|amelogenesis imperfecta 3, hypoplastic type (formerly)|amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2|amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked type 2|X-linked amelogenesis imperfecta hypoplastic/hypomaturation type 2|amelogenesis imperfecta 3, hypoplastic type, formerly|AIH3	http://purl.obolibrary.org/obo/MONDO_0010522	UMLS:C1845051|DOID:0110059|https://omim.org/entry/301201	
CHEBI:16336	biolink:ChemicalSubstance	hyaluronic acid	A mucopolysaccharide composed of N-acetylglucosamine and glucuronic acid subunits. It is found in the connective tissues of vertebrates. A principal constituent of the extracellular matrix (ECM), it mediates the growth and metastasis of tumour cells.		mondo.json	acido hialuronico|[beta-N-Acetyl-D-glucosaminyl(1,4)beta-D-glucuronosyl(1,3)]n|Hyaluronsaeure|[beta-D-glucopyranuronosyl-(1->3)-2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->4)]n|acide hyaluronique|hyaluronan|Hyaluronic acid	http://purl.obolibrary.org/obo/CHEBI_16336		
CL:0008009	biolink:Cell	transversely striated visceral muscle cell	A visceral muscle that is transversely striated.  Examples include the visceral muscle cells of arthropods.		mondo.json		http://purl.obolibrary.org/obo/CL_0008009		
CL:0008002	biolink:Cell	skeletal muscle fiber	A transversely striated, synctial cell of skeletal muscle. It is formed when proliferating myoblasts exit the cell cycle, differentiate and fuse.		mondo.json		http://purl.obolibrary.org/obo/CL_0008002		
HGNC:2037	biolink:NamedThing	CLDN16			mondo.json		http://identifiers.org/hgnc/2037		
HGNC:4699	biolink:NamedThing	GYG1			mondo.json		http://identifiers.org/hgnc/4699		
HGNC:2035	biolink:NamedThing	CLDN14			mondo.json		http://identifiers.org/hgnc/2035		
HGNC:4696	biolink:NamedThing	GUSB			mondo.json		http://identifiers.org/hgnc/4696		
CL:0008000	biolink:Cell	non-striated muscle cell	Any muscle cell in which the fibers are not organised into sarcomeres.		mondo.json		http://purl.obolibrary.org/obo/CL_0008000		
HGNC:2033	biolink:NamedThing	CLDN10			mondo.json		http://identifiers.org/hgnc/2033		
CL:0008001	biolink:Cell	hematopoietic precursor cell	Any hematopoietic cell that is a precursor of some other hematopoietic cell type.		mondo.json		http://purl.obolibrary.org/obo/CL_0008001		
UBERON:0018135	biolink:AnatomicalEntity	fibrocollagenous connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018135		
MONDO:0009539	biolink:Disease	lymphoblastic leukemia, acute, with lymphomatous features		UMLS:C1855472|OMIM:247640|MESH:C565429	mondo.json	lymphomatous All|leukemia, acute lymphoblastic|lall|lymphoblastic leukemia, acute, with lymphomatous features	http://purl.obolibrary.org/obo/MONDO_0009539	http://identifiers.org/mesh/C565429|UMLS:C1855472|https://omim.org/entry/247640	
UBERON:0018132	biolink:AnatomicalEntity	tail fat pad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018132		
MONDO:0009538	biolink:Disease	lymphoid system deterioration, progressive		UMLS:C1855473|OMIM:247630|MESH:C565430	mondo.json	lymphoid system deterioration, progressive	http://purl.obolibrary.org/obo/MONDO_0009538	http://identifiers.org/mesh/C565430|UMLS:C1855473|https://omim.org/entry/247630	
MONDO:0009537	biolink:Disease	lymphoid interstitial pneumonia	Interstitial pneumonia characterized by the presence of bibasilar pulmonary interstitial infiltrates composed of lymphocytes and plasma cells. It may be associated with autoimmune and lymphoproliferative disorders. Signs and symptoms include fever, cough, and dyspnea. Symptomatic patients may require immunosuppressive treatment.	Orphanet:79128|OMIM:247610|DOID:0050159|ICD9:516.8|SCTID:44274007|ICD10CM:J84.2|MedDRA:10062997|UMLS:C0264511|MESH:C562489|NCIT:C27558	mondo.json	lymphocytic interstitial pneumonia|diffuse hyperplasia of bronchus-associated lymphoid tissue|LIP|lymphocytic interst. pneumonitis|lymphocytic interstitial pneumonitis|lymphoid interstitial pneumonia	http://purl.obolibrary.org/obo/MONDO_0009537	http://identifiers.org/snomedct/44274007|DOID:0050159|UMLS:C0264511|Orphanet:79128|NCIT:C27558|http://purl.bioontology.org/ontology/ICD10CM/J84.2|http://identifiers.org/mesh/C562489|https://omim.org/entry/247610	ordo_disease
MONDO:0010503	biolink:Disease	Bartter disease type 5	Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene.	Orphanet:570371|DOID:0110147|UMLS:C4310820|OMIM:300971	mondo.json	MAGED2 Bartter syndrome|Bartter syndrome caused by mutation in MAGED2|Bartter syndrome, type 5, antenatal, transient, X-linked recessive|Bartter syndrome, type 5, antenatal, transient|BARTS5	http://purl.obolibrary.org/obo/MONDO_0010503	DOID:0110147|Orphanet:570371|https://omim.org/entry/300971|UMLS:C4310820	
MONDO:0009536	biolink:Disease	chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation		MESH:C565431|OMIM:247450|UMLS:C1855474	mondo.json	lymphoblastic transformation, intrinsic defect IN|lymphoblastic transformation, intrinsic defect type 1N	http://purl.obolibrary.org/obo/MONDO_0009536	UMLS:C1855474|http://identifiers.org/mesh/C565431|https://omim.org/entry/247450	
MONDO:0010502	biolink:Disease	intellectual disability, X-linked 99, syndromic, female-restricted	Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the USP9X gene.	OMIM:300968	mondo.json	MRXS99F|mental retardation, X-linked 99, syndromic, female-restricted|intellectual developmental disorder, X-linked 99, syndromic, female-restricted, X-linked dominant|USP9X X-linked syndromic intellectual disability|intellectual disability, X-linked 99, syndromic, female-restricted|X-linked syndromic intellectual disability caused by mutation in USP9X	http://purl.obolibrary.org/obo/MONDO_0010502	https://omim.org/entry/300968	
MONDO:0009535	biolink:Disease	obsolete lymphedema, congenital recessive		MESH:C565432|OMIM:247440|UMLS:C1855475	mondo.json	lymphedema, congenital recessive	http://purl.obolibrary.org/obo/MONDO_0009535	http://identifiers.org/mesh/C565432|UMLS:C1855475|https://omim.org/entry/247440	
MONDO:0009534	biolink:Disease	chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation		MESH:C565433|OMIM:247430	mondo.json	lymphoblastic transformation, inhibition of	http://purl.obolibrary.org/obo/MONDO_0009534	http://identifiers.org/mesh/C565433|https://omim.org/entry/247430	
MONDO:0010505	biolink:Disease	intellectual disability-balding-patella luxation-acromicria syndrome	Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.	GARD:0000257|OMIM:300977|Orphanet:3041|UMLS:C1866985|SCTID:722002002|MESH:C536638	mondo.json	Scholte syndrome|SHLTS|Scholte-Begeer-van Essen syndrome|early balding, patella luxation, acromicria and hypogonadism|SCHOLTE syndrome|early balding, patella luxation, acromicria, and hypogonadism	http://purl.obolibrary.org/obo/MONDO_0010505	http://identifiers.org/mesh/C536638|http://identifiers.org/snomedct/722002002|UMLS:C1866985|https://omim.org/entry/300977|Orphanet:3041	ordo_malformation_syndrome
MONDO:0009533	biolink:Disease	Dahlberg-Borer-Newcomer syndrome	Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.	GARD:0000237|OMIM:247410|SCTID:721083007|Orphanet:1563|MESH:C535769|UMLS:C1855477	mondo.json	lymphedema hypoparathyroidism syndrome|hypoparathyroidism-lymphedema syndrome|lymphedema-hypoparathyroidism syndrome|hypoparathyroidism lymphedema syndrome|Dahlberg syndrome|Dahlberg Borer Newcomer syndrome	http://purl.obolibrary.org/obo/MONDO_0009533	Orphanet:1563|UMLS:C1855477|http://identifiers.org/mesh/C535769|https://omim.org/entry/247410|http://identifiers.org/snomedct/721083007	gard_rare|ordo_malformation_syndrome
MONDO:0010504	biolink:Disease	immunodeficiency 47	Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene.	UMLS:C4310819|OMIM:300972	mondo.json	immunodeficiency 47; IMD47|primary immunodeficiency disease caused by mutation in ATP6AP1|immunodeficiency type 47|immunodeficiency and hepatopathy with or without neurologic features|immunodeficiency 47|IMD47|ATP6AP1 primary immunodeficiency disease|immunodeficiency 47, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0010504	https://omim.org/entry/300972|UMLS:C4310819	
MONDO:0009532	biolink:Disease	Miller-Dieker lissencephaly syndrome	A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip.	SCTID:253148005|UMLS:C0265219|MedDRA:10068361|DECIPHER:21|OMIM:247200|NCIT:C124852|ICD9:758.33|DOID:0060469|GARD:0003669|Orphanet:531	mondo.json	monosomy 17p13.3|Miller-Dieker syndrome|Miller-Dieker lissencephaly syndrome|telomeric deletion 17p|Miller-Dieker syndrome chromosome region|lissencephaly due to 17p13.3 deletion|chromosome 17P13.3 deletion syndrome|MDLS	http://purl.obolibrary.org/obo/MONDO_0009532	UMLS:C0265219|http://identifiers.org/snomedct/253148005|Orphanet:531|DOID:0060469|https://omim.org/entry/247200|NCIT:C124852	ordo_malformation_syndrome
MONDO:0010507	biolink:Disease	Xq25 microduplication syndrome		UMLS:C4311049|Orphanet:521258|OMIM:300979	mondo.json	Xq25 duplication syndrome|Xq25 triplication syndrome	http://purl.obolibrary.org/obo/MONDO_0010507	https://omim.org/entry/300979|UMLS:C4311049|Orphanet:521258	ordo_malformation_syndrome
MONDO:0010506	biolink:Disease	intellectual disability, X-linked 61	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RLIM gene.	OMIM:300978|UMLS:C4283894	mondo.json	intellectual disability, X-linked 61|mental retardation, X-linked type 61|RLIM non-syndromic X-linked intellectual disability|non-syndromic X-linked intellectual disability caused by mutation in RLIM|mental retardation, X-linked 61|MRX61|intellectual disability, X-linked type 61|Tonne-Kalscheuer syndrome	http://purl.obolibrary.org/obo/MONDO_0010506	UMLS:C4283894|https://omim.org/entry/300978	
MONDO:0009531	biolink:Disease	obsolete lip prints		OMIM:247150	mondo.json	lip prints	http://purl.obolibrary.org/obo/MONDO_0009531	https://omim.org/entry/247150	
MONDO:0009530	biolink:Disease	lipoid proteinosis	Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.	NCIT:C84829|UMLS:C0023795|GARD:0003268|OMIM:247100|SCTID:38692000|DOID:14498|Orphanet:530|MESH:D008065|ICD9:272.8	mondo.json	hyalinosis cutis Et mucosae|lipoid proteinosis of Urbach and Wiethe|lipoproteinosis|lipoid proteinosis|hyalinosis cutis et mucosae|Urbach-Wiethe disease|lipid proteinosis|Urbach Wiethe disease	http://purl.obolibrary.org/obo/MONDO_0009530	Orphanet:530|DOID:14498|https://omim.org/entry/247100|http://identifiers.org/snomedct/38692000|UMLS:C0023795|NCIT:C84829|http://identifiers.org/mesh/D008065	ordo_malformation_syndrome
MONDO:0010509	biolink:Disease	intellectual disability, X-linked 104	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene.	OMIM:300983|UMLS:C4310817	mondo.json	intellectual developmental disorder, X-linked 104|intellectual disability, X-linked type 104|intellectual disability, X-linked 104|non-syndromic X-linked intellectual disability caused by mutation in FRMPD4|mental retardation, X-linked type 104|mental retardation, X-linked 104|FRMPD4 non-syndromic X-linked intellectual disability|MRX104	http://purl.obolibrary.org/obo/MONDO_0010509	UMLS:C4310817|https://omim.org/entry/300983	
MONDO:0010508	biolink:Disease	intellectual disability, X-linked 103	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene.	OMIM:300982|UMLS:C4310818	mondo.json	MRX103|KLHL15 non-syndromic X-linked intellectual disability|intellectual disability, X-linked type 103|intellectual disability, X-linked 103|mental retardation, X-linked type 103|mental retardation, X-linked 103|non-syndromic X-linked intellectual disability caused by mutation in KLHL15|intellectual developmental disorder, X-linked 103, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0010508	UMLS:C4310818|https://omim.org/entry/300982	
HGNC:2040	biolink:NamedThing	CLDN19			mondo.json		http://identifiers.org/hgnc/2040		
MONDO:0010510	biolink:Disease	intellectual disability, X-linked 105	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP27X gene.	UMLS:C4310816|OMIM:300984	mondo.json	non-syndromic X-linked intellectual disability caused by mutation in USP27X|mental retardation, X-linked type 105|intellectual disability, X-linked 105|mental retardation, X-linked 105|intellectual developmental disorder, X-linked 105, X-linked recessive|USP27X non-syndromic X-linked intellectual disability|MRX105|intellectual disability, X-linked type 105	http://purl.obolibrary.org/obo/MONDO_0010510	https://omim.org/entry/300984|UMLS:C4310816	
CL:0008017	biolink:Cell	adult skeletal muscle myoblast	A skeletal muscle myoblast that is part of a skeletal mucle.  These cells are formed following acivation and division of skeletal muscle satellite cells. They form a transient population that is lost when they fuse to form skeletal muscle fibers.		mondo.json	myogenic precursor cell	http://purl.obolibrary.org/obo/CL_0008017		
MONDO:0010512	biolink:Disease	intellectual disability, X-linked, syndromic, Bain type		UMLS:C4310814|OMIM:300986	mondo.json	intellectual developmental disorder, X-linked, syndromic, Bain type, X-linked dominant|intellectual disability, X-linked, syndromic, Bain type|MRXSB|mental retardation, X-linked, syndromic, Bain type	http://purl.obolibrary.org/obo/MONDO_0010512	https://omim.org/entry/300986|UMLS:C4310814	
CL:0008019	biolink:Cell	mesenchymal cell	A non-polarised cell precursor cell that is part of some mesenchyme, is associated with the cell matrix but is not connected to other cells and is capable of migration.		mondo.json	mesenchyme cell	http://purl.obolibrary.org/obo/CL_0008019		
MONDO:0010511	biolink:Disease	vas deferens, congenital bilateral aplasia of, X-linked		UMLS:C4310815|OMIM:300985	mondo.json	CBAVDX|vas deferens, congenital bilateral aplasia of, X-linked; CBAVDX|vas deferens, congenital bilateral aplasia of, X-linked|congenital bilateral absence of vas deferens, X-linked	http://purl.obolibrary.org/obo/MONDO_0010511	https://omim.org/entry/300985|UMLS:C4310815	
NCBITaxon:53551	biolink:OrganismalEntity	Sabethes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_53551		
NCBITaxon:53550	biolink:OrganismalEntity	Culicini		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_53550		
MONDO:0009509	biolink:Disease	Landau-Kleffner syndrome	Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females. In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A, but this testing is not done routinely. Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS.	MESH:D018887|DOID:2538|SCTID:230438007|Orphanet:98818|UMLS:C0282512|NCIT:C84806|MedDRA:10052075|MedDRA:10052083|OMIM:245570|GARD:0006855|EFO:1001010	mondo.json	Rolandic epilepsy, intellectual disability, and speech dyspraxia, autosomal dominant|aphasia, acquired, with epilepsy|FESD|epilepsy, focal, with speech disorder and with or without intellectual disability|continuous Spike and waves during slow-Wave sleep syndrome|benign epilepsy of childhood with centrotemporal spikes|acquired epileptic aphasia|acquired epileptiform aphasia|epilepsy, focal, with speech disorder and with or without impaired intellectual development|epilepsy, focal, with speech disorder and with or without mental retardation|acquired aphasia with convulsive disorder|Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant|LKS|Landau-Kleffner syndrome	http://purl.obolibrary.org/obo/MONDO_0009509	http://identifiers.org/mesh/D018887|NCIT:C84806|https://omim.org/entry/245570|UMLS:C0282512|Orphanet:98818|http://identifiers.org/snomedct/230438007|DOID:2538	gard_rare|ordo_disease
NCBITaxon:186938	biolink:OrganismalEntity	Respirovirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_186938		
MONDO:0009508	biolink:Disease	Lambotte syndrome		UMLS:C1855550|OMIM:245552|GARD:0008470|MESH:C537549	mondo.json	microcephaly, holoprosencephaly, and intrauterine Growth retardation|Lambotte syndrome	http://purl.obolibrary.org/obo/MONDO_0009508	https://omim.org/entry/245552|http://identifiers.org/mesh/C537549|UMLS:C1855550	
MONDO:0009507	biolink:Disease	Lambert syndrome	Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.	MESH:C538396|Orphanet:1296|SCTID:732961003|UMLS:C1855551|OMIM:245550|GARD:0003169	mondo.json	branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia|branchial dysplasia clubfoot inguinal hernia and biliary atresia|Lambert syndrome|branchial dysplasia-intellectual disability-inguinal hernia syndrome	http://purl.obolibrary.org/obo/MONDO_0009507	https://omim.org/entry/245550|http://identifiers.org/mesh/C538396|Orphanet:1296|http://identifiers.org/snomedct/732961003|UMLS:C1855551	gard_rare|ordo_malformation_syndrome
UBERON:0018120	biolink:AnatomicalEntity	right renal medulla interstitium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018120		
MONDO:0009506	biolink:Disease	specific granule deficiency		OMIMPS:245480|Orphanet:169142|GARD:0010778|MESH:C562873|SCTID:234587000|UMLS:C0398593	mondo.json	neutrophil-specific granule deficiency|SGD|recurrent infection due to specific granule deficiency|lactoferrin-deficient neutrophils|specific granule deficiency|neutrophil lactoferrin deficiency	http://purl.obolibrary.org/obo/MONDO_0009506	http://identifiers.org/mesh/C562873|https://omim.org/phenotypicSeries/PS245480|UMLS:C0398593|Orphanet:169142|http://identifiers.org/snomedct/234587000	ordo_disease
MONDO:0009505	biolink:Disease	lactic aciduria due to D-lactic acid		UMLS:C1855552|MESH:C565446|OMIM:245450	mondo.json	lactic aciduria due to D-lactic acid|D-lactic aciduria with susceptibility to gout	http://purl.obolibrary.org/obo/MONDO_0009505	https://omim.org/entry/245450|http://identifiers.org/mesh/C565446|UMLS:C1855552	
MONDO:0009504	biolink:Disease	mitochondrial DNA depletion syndrome 9	Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.	MESH:C538134|GARD:0003163|OMIM:245400|DOID:0080128|MESH:C566885|Orphanet:17|SCTID:715338007	mondo.json	mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)|lactic acidosis, fatal infantile, formerly|lactic acidosis, fatal infantile|lactic acidosis congenital infantile|succinate-CoA ligase deficiency|MTDPS9|mitochondrial DNA depletion syndrome 9|mitochondrial DNA depletion syndrome type 9|SUCLG1 mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome caused by mutation in SUCLG1|fatal infantile lactic acidosis with methylmalonic aciduria	http://purl.obolibrary.org/obo/MONDO_0009504	https://omim.org/entry/245400|http://identifiers.org/mesh/C538134|DOID:0080128|http://identifiers.org/mesh/C566885|http://identifiers.org/snomedct/715338007|Orphanet:17	gard_rare|ordo_disease
MONDO:0009503	biolink:Disease	pyruvate dehydrogenase E3-binding protein deficiency	Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction.	OMIM:245349|MESH:C565447|UMLS:C1855553|Orphanet:255182	mondo.json	dihydrolipoyl dehydrogenase deficiency|diaphorase deficiency|Glycine cleavage system L protein deficiency|PDHXD|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase protein X component deficiency|2-oxoglutarate complex deficiency|lacticacidemia due to PDX1 deficiency|lipoamide dehydrogenase deficiency|lactic acidemia due to defect in lipoyl-containing component 10 of the pyruvate dehydrogenase Complex|pyruvate dehydrogenase E3-binding PROTEIN deficiency|pyruvate dehydrogenase E3-binding protein deficiency|pyruvate dehydrogenase complex component E3 deficiency	http://purl.obolibrary.org/obo/MONDO_0009503	https://omim.org/entry/245349|Orphanet:255182|http://identifiers.org/mesh/C565447|UMLS:C1855553	ordo_clinical_subtype
MONDO:0009502	biolink:Disease	pyruvate dehydrogenase E2 deficiency	Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.	OMIM:245348|MESH:C565448|Orphanet:79244|UMLS:C1855565	mondo.json	pyruvate dehydrogenase E2 deficiency|dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency|PDHDD|pyruvate dehydrogenase complex component E2 deficiency|dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency|lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase Complex	http://purl.obolibrary.org/obo/MONDO_0009502	https://omim.org/entry/245348|http://identifiers.org/mesh/C565448|UMLS:C1855565|Orphanet:79244	ordo_clinical_subtype
MONDO:0009501	biolink:Disease	metabolic myopathy due to lactate transporter defect	Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.	MESH:C565449|OMIM:245340|UMLS:C1855577|SCTID:766715000|Orphanet:171690	mondo.json	erythrocyte lactate transporter defect|lactate transporter defect, myopathy due to	http://purl.obolibrary.org/obo/MONDO_0009501	Orphanet:171690|http://identifiers.org/mesh/C565449|UMLS:C1855577|http://identifiers.org/snomedct/766715000|https://omim.org/entry/245340	ordo_disease
MONDO:0009500	biolink:Disease	kuru, susceptibility to		UMLS:C1855588|OMIM:245300	mondo.json	susceptibility to kuru|kuru, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0009500	UMLS:C1855588|https://omim.org/entry/245300	predisposition
NCBITaxon:28568	biolink:OrganismalEntity	Trichocomaceae		GC_ID:1	mondo.json	Eurotiaceae	http://purl.obolibrary.org/obo/NCBITaxon_28568		
MONDO:0010501	biolink:Disease	syndromic X-linked intellectual disability 34	Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.	DOID:0060817|Orphanet:466791|OMIM:300967	mondo.json	mental retardation, X-linked, syndromic, Mircsof-Langouet type|mental retardation, X-linked, syndromic 34|intellectual developmental disorder, X-linked syndromic 34|intellectual disability, X-linked, syndromic type 34|MRXSML|MRXS34|intellectual disability, X-linked, syndromic, Mircsof-Langouet type|syndromic X-linked intellectual disability Mircsof-Langouet type|syndromic X-linked intellectual disability type 34|NONO X-linked syndromic intellectual disability|macrocephaly-intellectual disability-left ventricular non compaction syndrome|intellectual disability, X-linked, syndromic 34|X-linked syndromic intellectual disability caused by mutation in NONO|mental retardation, X-linked, syndromic type 34|syndromic X-linked mental retardation Mircsof-Langouet type	http://purl.obolibrary.org/obo/MONDO_0010501	DOID:0060817|https://omim.org/entry/300967|Orphanet:466791	ordo_malformation_syndrome
MONDO:0010500	biolink:Disease	intellectual disability, X-linked, syndromic 33	Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene.	OMIM:300966|UMLS:C4225418	mondo.json	mental retardation, X-linked, syndromic 33|TAF1 X-linked syndromic intellectual disability|intellectual disability, X-linked, syndromic type 33|intellectual disability, X-linked, syndromic 33|X-linked syndromic intellectual disability caused by mutation in TAF1|MRXS33|intellectual developmental disorder, X-linked syndromic 33, X-linked recessive|mental retardation, X-linked, syndromic type 33	http://purl.obolibrary.org/obo/MONDO_0010500	UMLS:C4225418|https://omim.org/entry/300966	
CHEBI:5386	biolink:ChemicalSubstance	globin			mondo.json	globins|Globin|pentacoordinate globin	http://purl.obolibrary.org/obo/CHEBI_5386		
UBERON:0018113	biolink:AnatomicalEntity	left kidney interstitium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018113		
UBERON:0018114	biolink:AnatomicalEntity	right kidney interstitium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018114		
UBERON:0018111	biolink:AnatomicalEntity	muscle layer of rectum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018111		
UBERON:0018112	biolink:AnatomicalEntity	rectum smooth muscle tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018112		
MONDO:0009519	biolink:Disease	letterer-Siwe disease	A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia.	ICDO:9754/3|UMLS:C0023381|OMIM:246400|Orphanet:99870|MedDRA:10024265|NCIT:C3160	mondo.json	histiocytosis X, acute disseminated|L-S disease|multifocal multisystem Langerhans cell histiocytosis|acute disseminated Langerhans cell histiocytosis|letterer-Siwe disease|acute and disseminated Langerhans cell histiocytosis	http://purl.obolibrary.org/obo/MONDO_0009519	NCIT:C3160|Orphanet:99870|UMLS:C0023381|https://omim.org/entry/246400	ordo_disease
MONDO:0009518	biolink:Disease	leprosy, susceptibility to, 3	Any leprosy in which the cause of the disease is a mutation in the TLR2 gene.	OMIM:246300	mondo.json	LPRS3|leprosy caused by mutation in TLR2|susceptibility to leprosy 3|leprosy, susceptibility to, 3|leprosy, susceptibility to, type 3|leprosy, susceptibility to|TLR2 leprosy	http://purl.obolibrary.org/obo/MONDO_0009518	https://omim.org/entry/246300	predisposition
MONDO:0009517	biolink:Disease	Donohue syndrome	Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation.	NCIT:C84676|UMLS:C0265344|SCTID:33559001|MESH:D056731|UMLS:C0271695|Orphanet:508|GARD:0006885|OMIM:246200|ICD9:259.8|SCTID:111307005|DOID:0050470	mondo.json	insulin receptor, defect 1N|Donohue syndrome|leprechaunism	http://purl.obolibrary.org/obo/MONDO_0009517	NCIT:C84676|http://identifiers.org/snomedct/111307005|http://identifiers.org/mesh/D056731|UMLS:C0265344|DOID:0050470|Orphanet:508|https://omim.org/entry/246200	ordo_malformation_syndrome
MONDO:0009516	biolink:Disease	absence deformity of leg-cataract syndrome	Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.	UMLS:C1855523|OMIM:246000|MESH:C565442|Orphanet:2310	mondo.json	leg, absence deformity of, with congenital cataract	http://purl.obolibrary.org/obo/MONDO_0009516	Orphanet:2310|http://identifiers.org/mesh/C565442|UMLS:C1855523|https://omim.org/entry/246000	ordo_malformation_syndrome
MONDO:0009515	biolink:Disease	Norum disease	A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.	OMIM:245900|Orphanet:79293|SCTID:238091006|UMLS:CN205883|NCIT:C84813|GARD:0004011|DOID:1391	mondo.json	lecithin:cholesterol acyltransferase deficiency|familial LCAT deficiency|complete LCAT deficiency|lecithin acyltransferase deficiency|LCAT deficiency|FLD|Norum disease	http://purl.obolibrary.org/obo/MONDO_0009515	NCIT:C84813|http://identifiers.org/snomedct/238091006|https://omim.org/entry/245900|Orphanet:79293|DOID:1391|UMLS:CN205883	ordo_clinical_subtype
MONDO:0009514	biolink:Disease	Laurence-Moon syndrome	A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.	SCTID:232059000|GARD:0012635|DOID:1930|MedDRA:10056710|ICD9:253.4|Orphanet:2377|UMLS:C0023138|SCTID:5619004|OMIM:245800|MESH:D007849|NCIT:C34760	mondo.json	LMS|Laurence-MOON syndrome|Laurence-Moon syndrome|Laurence-Moon-Biedl syndrome|LNMS	http://purl.obolibrary.org/obo/MONDO_0009514	https://omim.org/entry/245800|Orphanet:2377|NCIT:C34760|http://identifiers.org/snomedct/232059000|UMLS:C0023138|http://identifiers.org/mesh/D007849|DOID:1930	ordo_malformation_syndrome|gard_rare
MONDO:0009513	biolink:Disease	laryngo-onycho-cutaneous syndrome	LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.	SCTID:722675000|UMLS:C1328355|GARD:0000368|Orphanet:2407|OMIM:245660|MESH:C537032	mondo.json	Shabbir syndrome|laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome|LOCS|laryngo-onycho-cutaneous syndrome|logic syndrome|LARYNGOONYCHOCUTANEOUS syndrome|LOC syndrome	http://purl.obolibrary.org/obo/MONDO_0009513	https://omim.org/entry/245660|Orphanet:2407|http://identifiers.org/mesh/C537032|UMLS:C1328355|http://identifiers.org/snomedct/722675000	ordo_disease
MONDO:0009512	biolink:Disease	lethal Larsen-like syndrome	Larsen-like syndrome, lethal type, is characterised by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out.	SCTID:719409004|UMLS:C1855535|GARD:0003181|UMLS:C4304741|Orphanet:2371|OMIM:245650|MESH:C537872	mondo.json	Larsen-like multiple joint dislocation syndrome|Larsen-like syndrome, lethal type	http://purl.obolibrary.org/obo/MONDO_0009512	Orphanet:2371|http://identifiers.org/mesh/C537872|http://identifiers.org/snomedct/719409004|UMLS:C4304741|UMLS:C1855535|https://omim.org/entry/245650	ordo_malformation_syndrome
UBERON:0018119	biolink:AnatomicalEntity	left renal medulla interstitium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018119		
MONDO:0009511	biolink:Disease	Larsen-like syndrome, B3GAT3 type	Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.	DOID:0080575|MESH:C537874|Orphanet:284139|OMIM:245600	mondo.json	multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects|multiple JOINT dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects|multiple Joint dislocations, short stature, and craniofacial Dysmorphism with or without congenital heart defects|Larsen syndrome, autosomal recessive, formerly|Larsen syndrome, autosomal recessive|multiple JOINT dislocations, short stature, craniofacial dysmorphism, and congenital heart defects|JDSCD|multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	http://purl.obolibrary.org/obo/MONDO_0009511	Orphanet:284139|DOID:0080575|http://identifiers.org/mesh/C537874|https://omim.org/entry/245600	ordo_malformation_syndrome
MONDO:0009510	biolink:Disease	obsolete Laron syndrome with immunodeficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009510		
UBERON:0018117	biolink:AnatomicalEntity	left renal cortex interstitium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018117		
NCBITaxon:28556	biolink:OrganismalEntity	Pleosporaceae		GC_ID:1	mondo.json	Pyrenophoraceae	http://purl.obolibrary.org/obo/NCBITaxon_28556		
UBERON:0018118	biolink:AnatomicalEntity	right renal cortex interstitium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018118		
UBERON:0018115	biolink:AnatomicalEntity	left renal pelvis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018115		
UBERON:0018116	biolink:AnatomicalEntity	right renal pelvis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018116		
UBERON:0006135	biolink:AnatomicalEntity	myelinated nerve fiber			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006135		
UBERON:0006134	biolink:AnatomicalEntity	nerve fiber			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006134		
UBERON:0006133	biolink:AnatomicalEntity	funiculus of neuraxis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006133		
HGNC:2063	biolink:NamedThing	CLIC2			mondo.json		http://identifiers.org/hgnc/2063		
GO:2000531	biolink:NamedThing	obsolete regulation of fatty acid biosynthetic process by regulation of transcription from RNA polymerase II promoter	OBSOLETE. Any process that modulates the frequency, rate or extent of the biosynthesis of fatty acids, by modulating the frequency, rate or extent of transcription from an RNA polymerase II promoter.		mondo.json		http://purl.obolibrary.org/obo/GO_2000531		
UBERON:0006136	biolink:AnatomicalEntity	unmyelinated nerve fiber			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006136		
MONDO:0022545	biolink:Disease	Barnicoat Baraitser syndrome		GARD:0000825	mondo.json	polysyndactyly overgrowth syndrome|Barnicoat-Baraitser syndrome	http://purl.obolibrary.org/obo/MONDO_0022545		gard_rare
MONDO:0022546	biolink:Disease	obsolete basal cell nevus anodontia abnormal bone mineralization			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022546		
MONDO:0009569	biolink:Disease	Hennekam-Beemer syndrome	Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive.	Orphanet:2135|OMIM:248910|ICD10CM:Q82.2|SCTID:722453009|UMLS:CN201032|MESH:C536033|GARD:0003409	mondo.json	skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation|mastocytosis cutaneous with short stature conductive hearing loss and microtia|Hennekam Beemer syndrome|cutaneous mastocytosis, conductive hearing loss and microtia|mastocytosis-short stature-hearing loss syndrome|skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe intellectual disability	http://purl.obolibrary.org/obo/MONDO_0009569	http://identifiers.org/snomedct/722453009|https://omim.org/entry/248910|Orphanet:2135|UMLS:CN201032|http://identifiers.org/mesh/C536033	ordo_malformation_syndrome|gard_rare
MONDO:0010558	biolink:Disease	choroideremia-deafness-obesity syndrome	Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.	MESH:C537793|GARD:0000369|Orphanet:1435|SCTID:717761005|OMIM:303110|UMLS:C1844836	mondo.json	choroideremia, obesity, and congenital deafness|Ayazi syndrome|choroideremia, deafness, and mental retardation|choroideremia deafness obesity|chromosome Xq21 deletion syndrome|choroideremia, deafness, and intellectual disability|Xq21 deletion syndrome, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0010558	http://identifiers.org/snomedct/717761005|Orphanet:1435|https://omim.org/entry/303110|UMLS:C1844836|http://identifiers.org/mesh/C537793	ordo_malformation_syndrome
MONDO:0010557	biolink:Disease	choroideremia	Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.	NCIT:C34469|MedDRA:10008791|UMLS:C0008525|ICD9:363.55|GARD:0006061|SCTID:75241009|MESH:D015794|Orphanet:180|OMIM:303100|DOID:9821|ICD10CM:H31.21	mondo.json	progressive choroidal atrophy|choroideremia|Tapetochoroidal dystrophy, progressive|TCD|progressive tapetochoroidal dystrophy|choroidal sclerosis|CHM|Tapetochoroidal dystrophy	http://purl.obolibrary.org/obo/MONDO_0010557	DOID:9821|http://identifiers.org/mesh/D015794|https://omim.org/entry/303100|NCIT:C34469|Orphanet:180|http://purl.bioontology.org/ontology/ICD10CM/H31.21|UMLS:C0008525|http://identifiers.org/snomedct/75241009	ordo_disease|gard_rare
MONDO:0009568	biolink:Disease	mast syndrome	Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.	MESH:C565409|OMIM:248900|UMLS:C1855346|Orphanet:101001|SCTID:764734003|DOID:0060245	mondo.json	hereditary spastic paraplegia 21|SPG21|Mast syndrome|autosomal recessive spastic paraplegia type 21|spastic paraplegia 21, autosomal recessive|autosomal recessive spastic paraplegia 21|mast syndrome	http://purl.obolibrary.org/obo/MONDO_0009568	DOID:0060245|Orphanet:101001|https://omim.org/entry/248900|http://identifiers.org/snomedct/764734003|UMLS:C1855346|http://identifiers.org/mesh/C565409	ordo_disease
MONDO:0009567	biolink:Disease	Marinesco-Sjogren syndrome	Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.	DOID:0080195|SCTID:80734006|UMLS:C0024814|Orphanet:559|ICD9:742.4|GARD:0008341|OMIM:248800	mondo.json	Marinesco-Sjogren syndrome-myopathy|hereditary oligophrenic cerebello-lental degeneration|oligophrenic cerebellolenticular degeneration|Marinesco-Sjogren syndrome|Marinesco-Sjögren syndrome|Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism|MSS|Marinesco-Sjogren-Garland syndrome|Garland-Moorhouse syndrome|Marinesco-Garland syndrome	http://purl.obolibrary.org/obo/MONDO_0009567	UMLS:C0024814|http://identifiers.org/snomedct/80734006|https://omim.org/entry/248800|DOID:0080195|Orphanet:559	ordo_disease
MONDO:0010559	biolink:Disease	MASA syndrome	MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.	NCIT:C129930|Orphanet:2466|DOID:0060246|OMIM:303350|UMLS:C0795953|GARD:0006986|SCTID:716996008	mondo.json	Clasped thumb and intellectual disability|thumb congenital clasped with intellectual disability|Gareis-Mason syndrome|adducted thumb with mental retardation|thumb, congenital Clasped, with mental retardation|intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome|spastic paraplegia 1, X-linked|X-linked spastic paraplegia 1|adducted thumb with intellectual disability|thumb, congenital Clasped, with intellectual disability|spastic paraplegia, X-linked|thumb congenital clasped with mental retardation|Clasped thumb and mental retardation|intellectual disability, aphasia, shuffling Gait, and adducted thumbs|X-linked corpus callosum agenesis|CRASH syndrome, X-linked recessive|mental retardation aphasia shuffling Gait adducted thumbs (MASA)|spastic paraplegia 1|X-linked complicated hereditary spastic paraplegia type 1|CRASH syndrome|MASA syndrome|intellectual disability aphasia shuffling Gait adducted thumbs (MASA)|mental retardation, aphasia, shuffling Gait, and adducted thumbs|masa syndrome, X-linked recessive|hereditary spastic paraplegia 1	http://purl.obolibrary.org/obo/MONDO_0010559	Orphanet:2466|http://identifiers.org/snomedct/716996008|UMLS:C0795953|https://omim.org/entry/303350|NCIT:C129930|DOID:0060246	ordo_clinical_subtype
MONDO:0009566	biolink:Disease	marfanoid habitus-autosomal recessive intellectual disability syndrome	Marfanoid habitus B intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit.	UMLS:C1855347|OMIM:248770|Orphanet:2463|GARD:0003388|MESH:C565410	mondo.json	MARFANOID mental retardation syndrome, autosomal|Marfanoid intellectual disability syndrome autosomal|MARFANOID intellectual disability syndrome, autosomal|Marfanoid mental retardation syndrome autosomal	http://purl.obolibrary.org/obo/MONDO_0009566	https://omim.org/entry/248770|Orphanet:2463|http://identifiers.org/mesh/C565410|UMLS:C1855347	ordo_malformation_syndrome
MONDO:0009565	biolink:Disease	microcephaly-glomerulonephritis-marfanoid habitus syndrome	This syndrome is characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis.	GARD:0003615|Orphanet:2172|UMLS:C1855348|MESH:C565411|OMIM:248760	mondo.json	microcephaly glomerulonephritis Marfanoid habitus|MARFANOID habitus with microcephaly and glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0009565	https://omim.org/entry/248760|Orphanet:2172|http://identifiers.org/mesh/C565411|UMLS:C1855348	gard_rare|ordo_malformation_syndrome
MONDO:0009564	biolink:Disease	Marden-Walker syndrome	Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.	GARD:0006973|ICD9:759.89|OMIM:248700|SCTID:449824004|MESH:C535910|Orphanet:2461	mondo.json	MWKS|connective tissue disorder Marden Walker type|MARDEN-WALKER syndrome|Marden-Walker syndrome|Mws	http://purl.obolibrary.org/obo/MONDO_0009564	https://omim.org/entry/248700|http://identifiers.org/mesh/C535910|Orphanet:2461|http://identifiers.org/snomedct/449824004	ordo_malformation_syndrome
MONDO:0009563	biolink:Disease	maple syrup urine disease	An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death.	Orphanet:511|DOID:9269|UMLS:C0024776|MedDRA:10026817|MESH:D008375|ICD10CM:E71.0|OMIMPS:248600|GARD:0003228|OMIM:248600|NCIT:C34806|SCTID:27718001	mondo.json	BCKDH deficiency|maple syrup urine disease, type 2|dihydrolipoamide dehydrogenase deficiency|maple syrup urine disease, thiamine-responsive|maple syrup urine disease, classic|maple syrup urine disease, intermittent|maple syrup urine disease, type II|branched chain ketoaciduria|maple syrup urine disease, type 1B|maple syrup urine disease, type 1A|branched-chain ketoaciduria|Ketoacidaemia|maple syrup urine disease, type IB|branched-chain 2-ketoacid dehydrogenase deficiency|maple syrup urine disease, type IA|maple syrup urine disease|BCKD deficiency|branched-chain Alpha-Keto acid dehydrogenase deficiency|Keto acid decarboxylase deficiency|MSUD|maple syrup urine disease, Intermediate	http://purl.obolibrary.org/obo/MONDO_0009563	https://omim.org/entry/248600|https://omim.org/phenotypicSeries/PS248600|DOID:9269|http://purl.bioontology.org/ontology/ICD10CM/E71.0|Orphanet:511|http://identifiers.org/mesh/D008375|NCIT:C34806|http://identifiers.org/snomedct/27718001|UMLS:C0024776	ordo_disease|prototype_pattern
MONDO:0009562	biolink:Disease	beta-mannosidosis	Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.	Orphanet:118|GARD:0000869|UMLS:C4048196|OMIM:248510|MESH:D044905|DOID:3633|ICD9:271.8|SCTID:238047006|NCIT:C84596	mondo.json	mannosidosis, BETA A, lysosomal|beta-mannosidosis|lysosomal beta-mannosidase deficiency|mannosidosis, beta|Beta-mannosidase deficiency|Beta-D-mannosidosis|beta-mannosidase deficiency|MANSB|lysosomal Beta-mannosidase deficiency	http://purl.obolibrary.org/obo/MONDO_0009562	UMLS:C4048196|NCIT:C84596|http://identifiers.org/snomedct/238047006|http://identifiers.org/mesh/D044905|Orphanet:118|https://omim.org/entry/248510|DOID:3633	ordo_disease
MONDO:0009561	biolink:Disease	alpha-mannosidosis	Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.	SCTID:65524005|UMLS:C0024748|OMIM:248500|NCIT:C84548|GARD:0006968|ICD9:271.8|DOID:3413|Orphanet:61|MESH:D008363	mondo.json	alpha-mannosidosis|deficiency of alpha-mannosidase|mannosidosis, ALPHA B, lysosomal|Alpha-D-mannosidosis|mannosidosis, alpha B lysosomal|lysosomal Alpha-D-mannosidase deficiency|alpha-mannosidase deficiency|lysosomal alpha-D-mannosidase deficiency|MANSA|Alpha mannosidase B deficiency|mannosidosis, alpha-, types I and II|Alpha-mannosidase B deficiency	http://purl.obolibrary.org/obo/MONDO_0009561	Orphanet:61|NCIT:C84548|http://identifiers.org/mesh/D008363|http://identifiers.org/snomedct/65524005|DOID:3413|UMLS:C0024748|https://omim.org/entry/248500	ordo_disease|gard_rare
MONDO:0010561	biolink:Disease	Coffin-Lowry syndrome	A rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.	MESH:D038921|OMIM:303600|SCTID:15182000|MESH:C536435|NCIT:C84643|DOID:3783|UMLS:C0265252|GARD:0008589|Orphanet:192|GARD:0006123|ICD9:759.89	mondo.json	dwarfism, lean spastic type|Coffin syndrome|Coffin syndrome 1|lean spastic dwarfism|intellectual disability with osteocartilaginous abnormalities|Coffin-Lowry syndrome, X-linked dominant|CLS|COFFIN-Lowry syndrome|Coffin-Lowry syndrome|mental retardation with osteocartilaginous abnormalities	http://purl.obolibrary.org/obo/MONDO_0010561	Orphanet:192|UMLS:C0265252|http://identifiers.org/mesh/D038921|https://omim.org/entry/303600|http://identifiers.org/mesh/C536435|http://identifiers.org/snomedct/15182000|DOID:3783|NCIT:C84643	ordo_malformation_syndrome|gard_rare
MONDO:0010560	biolink:Disease	cleft palate with or without ankyloglossia, X-linked	X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.	SCTID:766761000|DOID:0060613|OMIM:303400|MESH:C536426|GARD:0001394|Orphanet:324601	mondo.json	X-linked cleft palate|cleft palate X-linked|CPX|cleft palate with ankyloglossia|X-linked cleft palate and ankyloglossia|cleft palate with or without ankyloglossia, X-linked|cleft palate, X-linked	http://purl.obolibrary.org/obo/MONDO_0010560	https://omim.org/entry/303400|http://identifiers.org/mesh/C536426|http://identifiers.org/snomedct/766761000|DOID:0060613|Orphanet:324601	ordo_malformation_syndrome|gard_rare
MONDO:0009560	biolink:Disease	oculotrichoanal syndrome		UMLS:C1855425|GARD:0003395|MESH:C536022|Orphanet:2717|ICD9:759.89|SCTID:703539006|OMIM:248450	mondo.json	MOTA syndrome|Marles syndrome|MANITOBA oculotrichoanal syndrome|Manitoba Trichoanal syndrome|MOTA|Manitoba oculotrichoanal syndrome|Marles-Greenberg-Persaud syndrome|unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies	http://purl.obolibrary.org/obo/MONDO_0009560	http://identifiers.org/snomedct/703539006|http://identifiers.org/mesh/C536022|Orphanet:2717|UMLS:C1855425|https://omim.org/entry/248450	ordo_malformation_syndrome
HGNC:2076	biolink:NamedThing	CLN5			mondo.json		http://identifiers.org/hgnc/2076		
MONDO:0010563	biolink:Disease	blue cone monochromacy	Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia.	DOID:0050679|OMIM:303700|MESH:C536238|SCTID:24704003|Orphanet:16|UMLS:CN036572|GARD:0000917	mondo.json	X-chromosome-linked achromatopsia|S cone monochromatism|CBBM|X-linked achromatopsia incomplete|incomplete achromatopsia X-linked|colorblindness, blue-Mono-cone-monochromatic type|blue cone monochromacy|BCM|blue cone monochromacy, X-linked recessive|blue cone monochromatism|cone dystrophy 5, X-linked|achromatopsia incomplete X-linked|S cone monochromacy|X-linked incomplete achromatopsia|color blindness, blue monocone monochromatic type|atypical X-linked achromatopsia|color blindness blue mono cone monochromatic type	http://purl.obolibrary.org/obo/MONDO_0010563	http://identifiers.org/mesh/C536238|https://omim.org/entry/303700|DOID:0050679|http://identifiers.org/snomedct/24704003|UMLS:CN036572|Orphanet:16	gard_rare|ordo_disease
HGNC:2073	biolink:NamedThing	TPP1			mondo.json		http://identifiers.org/hgnc/2073		
MONDO:0010562	biolink:Disease	colonic atresia	Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.	NCIT:C101024|HP:0010448|MESH:C562562|OMIM:303650|GARD:0001446|SCTID:37054000|Orphanet:1198	mondo.json	colonic atresia|colon atresia|atresia of colon|colonic atresia (disease)|congenital atresia of colon	http://purl.obolibrary.org/obo/MONDO_0010562	Orphanet:1198|https://omim.org/entry/303650|NCIT:C101024|http://identifiers.org/snomedct/37054000|http://identifiers.org/mesh/C562562	ordo_morphological_anomaly
HGNC:2074	biolink:NamedThing	CLN3			mondo.json		http://identifiers.org/hgnc/2074		
MONDO:0010565	biolink:Disease	red color blindness	Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males.	EFO:0005580|Orphanet:319691|SCTID:51445007|ICD9:368.51|ICD10CM:H53.54|DOID:13910|OMIM:303900	mondo.json	colorblindness, protan|protan defect|red color blindness|partial achromatopsia, protan type|protanopia|CBP|protanomaly|red colorblindness|colorblindness, partial, protan series	http://purl.obolibrary.org/obo/MONDO_0010565	Orphanet:319691|https://omim.org/entry/303900|DOID:13910|http://purl.bioontology.org/ontology/ICD10CM/H53.54|http://identifiers.org/snomedct/51445007	
MONDO:0010564	biolink:Disease	red-green color blindness	Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population.	ICD10CM:H53.53|UMLS:C0155016|DOID:13909|OMIM:303800|SCTID:77479002|Orphanet:319698|EFO:0005581|ICD9:368.52	mondo.json	Deutan defect|CBD|Deutan colorblindness|reduced red-green discrimination|partial achromatopsia, deutan type|colorblindness, partial, DEUTAN series|deuteranopia|colorblindness, deutan|Green colorblindness|Deuteranomaly	http://purl.obolibrary.org/obo/MONDO_0010564	Orphanet:319698|http://identifiers.org/snomedct/77479002|https://omim.org/entry/303800|UMLS:C0155016|DOID:13909|http://purl.bioontology.org/ontology/ICD10CM/H53.53	
MONDO:0010567	biolink:Disease	cone dystrophy, X-linked, with tapetal-like sheen		GARD:0010119|MESH:C535975|UMLS:C1844775|OMIM:304030	mondo.json	cone dystrophy, X-linked, with tapetal-like sheen|X-linked recessive cone dystrophy with tapetal-like sheen|cone dystrophy X-linked with tapetal-like sheen	http://purl.obolibrary.org/obo/MONDO_0010567	https://omim.org/entry/304030|UMLS:C1844775|http://identifiers.org/mesh/C535975	gard_rare
MONDO:0010566	biolink:Disease	X-linked cone-rod dystrophy 1		MESH:C564438|GARD:0010652|DOID:0111008|OMIM:304020|Orphanet:1872	mondo.json	CORDX1|cone dystrophy X-linked 1|COD1|X-linked cone dystrophy 1|X-linked cone-rod dystrophy type 1|cone dystrophy 1, X-linked|cone-rod dystrophy, X-linked, type 1|cone-rod dystrophy, X-linked, 1, X-linked recessive|cone-rod dystrophy X-linked 1|cone-rod dystrophy, X-linked, 1	http://purl.obolibrary.org/obo/MONDO_0010566	https://omim.org/entry/304020|DOID:0111008|http://identifiers.org/mesh/C564438	gard_rare
MONDO:0022538	biolink:Disease	leukoplakia of gingiva	A clinical term that indicates the presence of a white patch on the surface of the gum which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis.	ICD9:528.6|NCIT:C3881|UMLS:C0239737|SCTID:32236000	mondo.json	Leukoplakia of Gingiva|Gingival Leukoplakia|Leukoplakia of gingiva|leukoplakia of gingiva|gingival leukoplakia	http://purl.obolibrary.org/obo/MONDO_0022538	UMLS:C0239737|NCIT:C3881|http://identifiers.org/snomedct/32236000	
CHR:9606-chr3q13.3	biolink:NamedThing	3q13.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr3q13.3		
HGNC:2079	biolink:NamedThing	CLN8			mondo.json		http://identifiers.org/hgnc/2079		
HGNC:2077	biolink:NamedThing	CLN6			mondo.json		http://identifiers.org/hgnc/2077		
MONDO:0022535	biolink:Disease	autonomic facial cephalgia		SCTID:230482003|UMLS:C0238902|GARD:0010369|ICD9:337.09	mondo.json	Carotidynia|carotidynia|Autonomic facial cephalgia|Carotodynia	http://purl.obolibrary.org/obo/MONDO_0022535	UMLS:C0238902|http://identifiers.org/snomedct/230482003	
MONDO:0010547	biolink:Disease	X-linked progressive cerebellar ataxia		UMLS:C0796205|Orphanet:1175|OMIM:302500|MESH:C563134	mondo.json	spinocerebellar ataxia, X-linked type 1|OPCA, X-linked|olivopontocerebellar atrophy, X-linked|spinocerebellar ataxia, X-linked 1, X-linked recessive|SCAX1|spinocerebellar ataxia, X-linked 1	http://purl.obolibrary.org/obo/MONDO_0010547	UMLS:C0796205|Orphanet:1175|https://omim.org/entry/302500|http://identifiers.org/mesh/C563134	ordo_disease
MONDO:0009579	biolink:Disease	Frank-Ter Haar syndrome	A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.	GARD:0005138|OMIM:211170|MESH:C536577|DOID:0111789|GARD:0000939|SCTID:720958002|MESH:C537274|UMLS:C1859406|Orphanet:137834|UMLS:C1855305|OMIM:249420	mondo.json	Borrone di Rocco Crovato syndrome|autosomal recessive Melnick-Needles syndrome (formerly)|Ter Haar syndrome|megalocornea, multiple skeletal anomalies, and developmental delay|Borrone Dermatocardioskeletal syndrome|FRANK-TER Haar syndrome|Frank-Ter Haar syndrome|Melnick-Needles syndrome, autosomal recessive, formerly|Frank Ter Haar syndrome|Melnick-Needles syndrome, autosomal recessive|FTHS|Borrone dermatocardioskeletal syndrome	http://purl.obolibrary.org/obo/MONDO_0009579	http://identifiers.org/snomedct/720958002|UMLS:C1859406|Orphanet:137834|http://identifiers.org/mesh/C537274|http://identifiers.org/mesh/C536577|UMLS:C1855305|https://omim.org/entry/249420|DOID:0111789	obsoletion_candidate|gard_rare|ordo_disease
MONDO:0010546	biolink:Disease	central incisors, absence of		OMIM:302400	mondo.json	central incisors, absence of	http://purl.obolibrary.org/obo/MONDO_0010546	https://omim.org/entry/302400	
UBERON:0006192	biolink:AnatomicalEntity	mesonephric proximal tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006192		
MONDO:0009578	biolink:Disease	neurocutaneous melanocytosis	Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.	MESH:C537387|GARD:0007186|Orphanet:2481|OMIM:249400	mondo.json	neurocutaneous melanosis, somatic|Neuromelanosis|neurocutaneous melanosis syndrome|melanosis, neurocutaneous|NCMS|neurocutaneous melanosis|NCM	http://purl.obolibrary.org/obo/MONDO_0009578	Orphanet:2481|http://identifiers.org/mesh/C537387|https://omim.org/entry/249400	ordo_disease
MONDO:0010549	biolink:Disease	Charcot-Marie-Tooth disease X-linked dominant 1	Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females.	OMIM:302800|SCTID:763455008|DOID:0110209|GARD:0001258|Orphanet:101075|UMLS:C0393808|NCIT:C129068	mondo.json	Charcot-Marie-Tooth disease X-linked dominant type 1|Charcot-Marie-Tooth peroneal muscular atrophy, X-linked|CMT1X|CMTX 1|Charcot Marie Tooth disease X-linked 1|Charcot-Marie-Tooth disease X-linked dominant 1|CMTX|Charcot-Marie-Tooth disease, X-linked dominant, 1|GJB1 Charcot-Marie-Tooth disease type X|CMT2, formerly|Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, X-linked dominant|Charcot-Marie-Tooth neuropathy X type 1|Charcot-Marie-Tooth neuropathy, X-linked, 1|hereditary motor and sensory neuropathy, X-linked|X-linked Charcot-Marie-Tooth disease type 1|Charcot-Marie-Tooth disease, X-linked dominant, type 1|CMT2|Charcot-Marie-Tooth disease, X-linked, 1|CMTX1|Charcot-Marie-Tooth disease type X caused by mutation in GJB1|HMSN, X-linked|Charcot-Marie-Tooth neuropathy X-linked dominant 1	http://purl.obolibrary.org/obo/MONDO_0010549	Orphanet:101075|UMLS:C0393808|NCIT:C129068|http://identifiers.org/snomedct/763455008|DOID:0110209|https://omim.org/entry/302800	ordo_disease
MONDO:0010548	biolink:Disease	spinocerebellar ataxia, X-linked 2		UMLS:C1844885|OMIM:302600|GARD:0009978|MESH:C537314	mondo.json	spinocerebellar ataxia, X-linked type 2|spinocerebellar ataxia, X-linked 2|spinocerebellar ataxia X-linked type 2|cerebellar ataxia with extrapyramidal involvement, early-onset|Scax2|cerebellar ataxia with extrapyramidal involvement early-onset	http://purl.obolibrary.org/obo/MONDO_0010548	http://identifiers.org/mesh/C537314|UMLS:C1844885|https://omim.org/entry/302600	
UBERON:0006190	biolink:AnatomicalEntity	mesonephric distal tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006190		
MONDO:0009577	biolink:Disease	megalocornea-intellectual disability syndrome	Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.	MESH:C536143|SCTID:733522005|UMLS:C0796086|GARD:0003448|OMIM:249310|Orphanet:2479	mondo.json	Neuhauser syndrome|megalocornea-intellectual disability syndrome|Neuhäuser syndrome|MMR syndrome|NeuhC$user syndrome|megalocornea intellectual disability syndrome|megalocornea mental retardation syndrome|megalocornea-mental retardation syndrome	http://purl.obolibrary.org/obo/MONDO_0009577	UMLS:C0796086|Orphanet:2479|http://identifiers.org/mesh/C536143|http://identifiers.org/snomedct/733522005|https://omim.org/entry/249310	ordo_malformation_syndrome|gard_rare
MONDO:0009576	biolink:Disease	megalocornea		HP:0007660|HP:0000485|OMIM:249300|MESH:C562829|DOID:0060305|SCTID:268158009	mondo.json	anterior megalophthalmos|megalocornea|megalocornea (disease)	http://purl.obolibrary.org/obo/MONDO_0009576	DOID:0060305|http://identifiers.org/mesh/C562829|http://identifiers.org/snomedct/268158009|https://omim.org/entry/249300	
MONDO:0009575	biolink:Disease	thiamine-responsive megaloblastic anemia syndrome	Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.	DOID:0090117|MESH:C536510|GARD:0009210|Orphanet:49827|OMIM:249270|SCTID:237617006|GARD:9210	mondo.json	thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus and deafness type)|thiamine metabolism dysfunction syndrome 1 (megaloblastic Anemia, diabetes mellitus, and deafness type)|thiamine responsive megaloblastic anemia syndrome|megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness|thiamine metabolism dysfunction syndrome 1|Rogers syndrome|thiamine-responsive Anemia syndrome|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|megaloblastic Anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness|thiamine-responsive megaloblastic anemia syndrome|thiamine-responsive myelodysplasia|TRMA|thiamine-responsive anemia syndrome|THMD1	http://purl.obolibrary.org/obo/MONDO_0009575	Orphanet:49827|http://identifiers.org/snomedct/237617006|http://identifiers.org/mesh/C536510|https://omim.org/entry/249270|DOID:0090117	gard_rare|ordo_disease
MONDO:0009574	biolink:Disease	megalencephaly with dysmyelination		OMIM:249240|MESH:C565408|UMLS:C1855309	mondo.json	megalencephaly with diffuse white matter hypodensity|megalencephaly with dysmyelination	http://purl.obolibrary.org/obo/MONDO_0009574	https://omim.org/entry/249240|UMLS:C1855309|http://identifiers.org/mesh/C565408	
MONDO:0009573	biolink:Disease	megaepiphyseal dwarfism		OMIM:249230|MESH:C536140|GARD:0003444	mondo.json	megaepiphyseal dwarfism	http://purl.obolibrary.org/obo/MONDO_0009573	http://identifiers.org/mesh/C536140|https://omim.org/entry/249230	gard_rare
MONDO:0009572	biolink:Disease	autosomal recessive familial Mediterranean fever	Autosomal recessive form of familial Mediterranean fever.	OMIM:249100	mondo.json	familial Mediterranean fever, AR|familial MEDITERRANEAN FEVER|familial Mediterranean fever, autosomal recessive|FMF|polyserositis, recurrent|familial Mediterranean fever|polyserositis, familial paroxysmal|autosomal recessive familial Mediterranean fever	http://purl.obolibrary.org/obo/MONDO_0009572	https://omim.org/entry/249100	
MONDO:0010550	biolink:Disease	Charcot-Marie-Tooth disease X-linked recessive 2	X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.	DOID:0110208|Orphanet:101076|MESH:C535302|SCTID:763457000|GARD:0001243|OMIM:302801|UMLS:C1844873	mondo.json	X-linked Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, X-linked recessive|Charcot-Marie-Tooth disease, X-linked recessive, 2|Charcot Marie Tooth disease X-linked recessive 2|CMTX2|Charcot-Marie-Tooth neuropathy X-linked recessive 2|CMTX 2|Charcot-Marie-Tooth neuropathy, X-linked recessive, 2|Charcot-Marie-Tooth disease X-linked recessive type 2	http://purl.obolibrary.org/obo/MONDO_0010550	http://identifiers.org/snomedct/763457000|UMLS:C1844873|DOID:0110208|http://identifiers.org/mesh/C535302|https://omim.org/entry/302801|Orphanet:101076	ordo_disease
MONDO:0009571	biolink:Disease	Meckel syndrome, type 1	Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene.	MESH:C536133|OMIM:249000|DOID:0070115|UMLS:C3714506	mondo.json	MKS|Meckel-Gruber syndrome, type 1|Meckel syndrome, type 1|MKS1 Meckel syndrome|Meckel Gruber syndrome|Meckel syndrome 1|Gruber syndrome|MKS1|Mes|Meckel syndrome type1|Dysencephalia Splanchnocystica|Meckel syndrome|Meckel syndrome caused by mutation in MKS1|Meckel-Gruber syndrome|Dysencephalia splachnocystica	http://purl.obolibrary.org/obo/MONDO_0009571	DOID:0070115|UMLS:C3714506|http://identifiers.org/mesh/C536133|https://omim.org/entry/249000	
MONDO:0010552	biolink:Disease	Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita		MESH:C538077|UMLS:C1844864|OMIM:302803	mondo.json	Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita	http://purl.obolibrary.org/obo/MONDO_0010552	http://identifiers.org/mesh/C538077|UMLS:C1844864|https://omim.org/entry/302803	
MONDO:0009570	biolink:Disease	McDonough syndrome	A rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism.	UMLS:C0796038|Orphanet:2471|OMIM:248950|GARD:0003424|SCTID:715441004|MESH:C538158	mondo.json	McDonough syndrome|mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect|intellectual disability, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect	http://purl.obolibrary.org/obo/MONDO_0009570	UMLS:C0796038|http://identifiers.org/mesh/C538158|Orphanet:2471|http://identifiers.org/snomedct/715441004|https://omim.org/entry/248950	gard_rare|ordo_malformation_syndrome
HGNC:2084	biolink:NamedThing	CLPP			mondo.json		http://identifiers.org/hgnc/2084		
MONDO:0010551	biolink:Disease	Charcot-Marie-Tooth disease X-linked recessive 3	X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported.	Orphanet:101077|OMIM:302802|SCTID:763458005|MESH:C535303|GARD:0001244|UMLS:C1844865|DOID:0110211	mondo.json	Charcot-Marie-Tooth neuropathy, X-linked recessive, 3, X-linked recessive|Charcot-Marie-Tooth disease, X-linked recessive, 3|Charcot Marie Tooth disease X-linked recessive 3|Charcot-Marie-Tooth disease X-linked recessive type 3|CMTX 3|Charcot-Marie-Tooth neuropathy, X-linked recessive, 3|X-linked Charcot-Marie-Tooth disease type 3|Charcot-Marie-Tooth neuropathy X-linked recessive 3|CMT3X|CMTX3	http://purl.obolibrary.org/obo/MONDO_0010551	http://identifiers.org/snomedct/763458005|UMLS:C1844865|http://identifiers.org/mesh/C535303|DOID:0110211|https://omim.org/entry/302802|Orphanet:101077	ordo_disease
MONDO:0010554	biolink:Disease	Abruzzo-Erickson syndrome	Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.	UMLS:C1844862|MESH:C535559|SCTID:718574003|Orphanet:921|OMIM:302905|GARD:0000360	mondo.json	cleft palate-coloboma-deafness syndrome|CHARGE-like syndrome, X-linked|CHARGE like syndrome X-linked|CHARGE-like syndrome|Abruzzo-Erickson syndrome|ABERS	http://purl.obolibrary.org/obo/MONDO_0010554	UMLS:C1844862|http://identifiers.org/snomedct/718574003|http://identifiers.org/mesh/C535559|Orphanet:921|https://omim.org/entry/302905	gard_rare|ordo_malformation_syndrome
MONDO:0010553	biolink:Disease	Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined		OMIM:302900|MESH:C564446|UMLS:C1844863	mondo.json	Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined	http://purl.obolibrary.org/obo/MONDO_0010553	UMLS:C1844863|http://identifiers.org/mesh/C564446|https://omim.org/entry/302900	
MONDO:0010556	biolink:Disease	X-linked chondrodysplasia punctata	X-linked form of chondrodysplasia punctata.	DOID:0060292|UMLS:C0263627	mondo.json	chondrodysplasia punctata, X-linked|X-linked dominant chondrodysplasia punctata|chondrodystrophia calcificans congenita|chondrodysplasia punctata, X-linked dominant|CPXD	http://purl.obolibrary.org/obo/MONDO_0010556	DOID:0060292|UMLS:C0263627	gard_rare|ordo_disease|prototype_pattern
MONDO:0010555	biolink:Disease	X-linked chondrodysplasia punctata 1	Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones.	UMLS:C1844853|OMIM:302950|OMIM:602497|UMLS:C3669395|GARD:0001296|Orphanet:79345	mondo.json	arse X-linked chondrodysplasia punctata|CDPX1|chondrodysplasia punctata, X-linked recessive, X-linked recessive|brachytelephalangic chondrodysplasia punctata|chondrodysplasia punctata 1, X-linked recessive|arylsulfatase E deficiency|chondrodysplasia punctata 1 X-linked recessive|X-linked chondrodysplasia punctata caused by mutation in arse|X-linked chondrodysplasia punctata caused by mutation in ARSE|chondrodysplasia punctata, brachytelephalangic|chondrodysplasia punctata brachytelephalangic|Cpxr|X-linked chondrodysplasia punctata 1|CPXR|ARSE X-linked chondrodysplasia punctata|chondrodysplasia punctata, Brachytelephalangic	http://purl.obolibrary.org/obo/MONDO_0010555	UMLS:C1844853|Orphanet:79345|UMLS:C3669395|https://omim.org/entry/302950	gard_rare|ordo_malformation_syndrome|prototype_pattern
NCBITaxon:2683628	biolink:OrganismalEntity	Bigyra		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2683628		
NCBITaxon:2683629	biolink:OrganismalEntity	Opalozoa		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2683629		
MONDO:0022529	biolink:Disease	BK-virus nephropathy		ICD9:079.89|GARD:0010470|SCTID:713886006|DOID:0040086|UMLS:C1697878	mondo.json	polyomavirus associated nephropathy|PVAN|nephropathy from BK virus|kidney disease caused by BK polyomavirus|nephropathy caused by BK polyomavirus|BK virus nephropathy|Polyomavirus nephropathy|BKN	http://purl.obolibrary.org/obo/MONDO_0022529	UMLS:C1697878|DOID:0040086|http://identifiers.org/snomedct/713886006	gard_rare
NCBITaxon:162997	biolink:OrganismalEntity	Culex annulirostris		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_162997		
MONDO:0009549	biolink:Disease	severe early-childhood-onset retinal dystrophy	Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy.	SCTID:716663009|ICD10CM:H35.5|OMIM:248200|Orphanet:364055	mondo.json	fundus flavimaculatus|macular Degeneration, juvenile|SECORD|Stargardt disease type 1|early-onset severe retinal dystrophy|STGD1|Stgd|retinal dystrophy, early-onset severe|Stargardt disease 1|EOSRD|macular dystrophy with flecks, type 1	http://purl.obolibrary.org/obo/MONDO_0009549	http://identifiers.org/snomedct/716663009|https://omim.org/entry/248200|Orphanet:364055	ordo_disease
MONDO:0009548	biolink:Disease	renal hypomagnesemia 5 with ocular involvement	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.	Orphanet:2196|OMIM:248190|DOID:0060881|MESH:C536148|GARD:0003451	mondo.json	FHHNCOI|familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement|idiopathic hypercalciuria with bilateral macular colobomata|FHHNC with severe ocular involvement|bilateral macular coloboma with hypercalciuria|HOMG5|hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement|familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement|hypercalciuria-bilateral macular coloboma syndrome|hypomagnesemia, renal, with ocular involvement|hypomagnesemia 5, renal, with ocular involvement|Meier-Blumberg-Imahorn syndrome|macular coloboma, bilateral, with hypercalciuria|Meier Blumberg Imahorn syndrome	http://purl.obolibrary.org/obo/MONDO_0009548	http://identifiers.org/mesh/C536148|https://omim.org/entry/248190|DOID:0060881|Orphanet:2196	ordo_disease|gard_rare
MONDO:0010536	biolink:Disease	tubulin, beta		OMIM:301850	mondo.json	tubulin, beta	http://purl.obolibrary.org/obo/MONDO_0010536	https://omim.org/entry/301850	
MONDO:0009547	biolink:Disease	macrosomia-microphthalmia-cleft palate syndrome	Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.	Orphanet:2432|UMLS:C1855467|OMIM:248110|GARD:0000177|MESH:C537830	mondo.json	macrosomia microphthalmia cleft palate|macrosomia with microphthalmia, lethal|Teebi-Al Saleh-Hassoon syndrome|macrosomia with lethal microphthalmia|Teebi Al-Saleh Hassoon syndrome	http://purl.obolibrary.org/obo/MONDO_0009547	http://identifiers.org/mesh/C537830|UMLS:C1855467|https://omim.org/entry/248110|Orphanet:2432	ordo_malformation_syndrome|gard_rare
MONDO:0010535	biolink:Disease	Bazex-Dupre-Christol syndrome	Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas.	SCTID:254820002|ICD9:757.39|SCTID:238640007|GARD:0000838|OMIM:301845|UMLS:C0406355|UMLS:CN200039|Orphanet:166113|Orphanet:113	mondo.json	BDCS|acrokeratosis of Bazex|follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome|follicular atrophoderma and basal cell carcinomas|Bazex-Dupré-Christol syndrome|follicular atrophoderma-basal cell carcinoma syndrome|Bazex syndrome|Bazex-Dupre-Christol syndrome|Bazex syndrome, X-linked dominant|acrokeratosis paraneoplastica|acrokeratosis paraneoplastica of Bazex|BZX	http://purl.obolibrary.org/obo/MONDO_0010535	https://omim.org/entry/301845|Orphanet:166113|http://identifiers.org/snomedct/238640007|UMLS:C0406355|Orphanet:113|http://identifiers.org/snomedct/254820002	ordo_disease
MONDO:0009546	biolink:Disease	macrosomia adiposa congenita		OMIM:248100|UMLS:C1855468|MESH:C565425	mondo.json	macrosomia adiposa congenita	http://purl.obolibrary.org/obo/MONDO_0009546	http://identifiers.org/mesh/C565425|https://omim.org/entry/248100|UMLS:C1855468	
MONDO:0009545	biolink:Disease	macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance		UMLS:C2931597|MESH:C537721|OMIM:248010|GARD:0000173	mondo.json	Macroepiphyseal dysplasia, McAlister coe type|macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance|McAlister coe Whyte syndrome	http://purl.obolibrary.org/obo/MONDO_0009545	http://identifiers.org/mesh/C537721|https://omim.org/entry/248010|UMLS:C2931597	gard_rare
MONDO:0010538	biolink:Disease	Mononen-Karnes-Senac syndrome	Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.	DOID:0110973|OMIM:301940|Orphanet:2565|UMLS:C2931060|MESH:C535914|SCTID:733095006|GARD:0004886	mondo.json	Mononen type brachydactyly|skeletal dysplasia brachydactyly|brachydactyly Mononen type|skeletal dysplasia-brachydactyly syndrome|short and abducted thumbs and great toes|brachydactyly, Mononen type|Mononen Karnes Senac syndrome|thumbs and great toes short and abducted|thumbs and great toes, short and abducted	http://purl.obolibrary.org/obo/MONDO_0010538	UMLS:C2931060|DOID:0110973|http://identifiers.org/mesh/C535914|https://omim.org/entry/301940|Orphanet:2565|http://identifiers.org/snomedct/733095006	ordo_malformation_syndrome|gard_rare
MONDO:0010537	biolink:Disease	Borjeson-Forssman-Lehmann syndrome	A X-linked yndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.	UMLS:C0265339|DOID:0050681|MESH:C536575|GARD:0000936|Orphanet:127|OMIM:301900|ICD9:759.89|SCTID:21634003	mondo.json	mental retardation, epilepsy, and endocrine disorder|intellectual disability-epilepsy-endocrine disorders syndrome|intellectual deficiency-epilepsy-endocrine disorders syndrome|mental deficiency, epilepsy and endocrine disorders|syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type|Borjeson-Forssman-Lehmann syndrome, X-linked recessive|mental retardation, epilepsy, and endocrine disorders|intellectual disability, X-linked, syndromic, Borjeson-Forssman-Lehmann type|intellectual disability, epilepsy, and endocrine disorders|MRXSBFL|intellectual disability, epilepsy, and endocrine disorder|Borjeson-FORSSMAN-Lehmann syndrome|Borjeson-Forssman-Lehmann syndrome|BFLS|BORJ|Borjeson syndrome|syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type|mental retardation, X-linked, syndromic, Borjeson-Forssman-Lehmann type	http://purl.obolibrary.org/obo/MONDO_0010537	http://identifiers.org/snomedct/21634003|https://omim.org/entry/301900|Orphanet:127|UMLS:C0265339|DOID:0050681|http://identifiers.org/mesh/C536575	ordo_malformation_syndrome|gard_rare
MONDO:0009544	biolink:Disease	macrocephaly/megalencephaly syndrome, autosomal recessive		UMLS:C3806412|MESH:C537453|OMIM:248000|GARD:0000148	mondo.json	macrocephaly/megalencephaly syndrome, autosomal recessive|mental retardation, macrocephaly, short stature and craniofacial dysmorphism|Fryns Dereymaeker Haegeman syndrome|MGCPH|intellectual disability, macrocephaly, short stature and craniofacial dysmorphism	http://purl.obolibrary.org/obo/MONDO_0009544	https://omim.org/entry/248000|UMLS:C3806412|http://identifiers.org/mesh/C537453	gard_rare
MONDO:0009543	biolink:Disease	prominent glabella-microcephaly-hypogenitalism syndrome	Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.	OMIM:247990|UMLS:C0796024|GARD:0000144|Orphanet:2083|MESH:C537714	mondo.json	MacDermot-Winter syndrome|Mac Dermot Winter syndrome|prominent glabella microcephaly hypogenitalism	http://purl.obolibrary.org/obo/MONDO_0009543	http://identifiers.org/mesh/C537714|https://omim.org/entry/247990|UMLS:C0796024|Orphanet:2083	gard_rare|ordo_malformation_syndrome
MONDO:0010539	biolink:Disease	X-linked mandibulofacial dysostosis	X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.	GARD:0001002|MESH:C537102|SCTID:719813003|OMIM:301950|Orphanet:1131|UMLS:C1844918	mondo.json	mandibulofacial dysostosis, Toriello type|branchial arch syndrome X-linked|X-linked branchial arch syndrome|mandibulofacial dysostosis, X-linked|mandibulofacial dysostosis Toriello type|branchial arch syndrome, X-linked|MFD Toriello type|X-linked mandibulofacial dysostosis with limb anomalies	http://purl.obolibrary.org/obo/MONDO_0010539	https://omim.org/entry/301950|http://identifiers.org/snomedct/719813003|Orphanet:1131|http://identifiers.org/mesh/C537102|UMLS:C1844918	ordo_malformation_syndrome
MONDO:0009542	biolink:Disease	lysine malabsorption syndrome		MESH:C563080|UMLS:C0796023|OMIM:247950	mondo.json	lysine malabsorption syndrome	http://purl.obolibrary.org/obo/MONDO_0009542	http://identifiers.org/mesh/C563080|https://omim.org/entry/247950|UMLS:C0796023	
MONDO:0009541	biolink:Disease	lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis		UMLS:C1855470|MESH:C565427|OMIM:247800	mondo.json	lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0009541	http://identifiers.org/mesh/C565427|UMLS:C1855470|https://omim.org/entry/247800	
MONDO:0009540	biolink:Disease	chronic mucocutaneous candidiasis due to lymphokine deficiency		OMIM:247650|MESH:C565428|UMLS:C1855471	mondo.json	lymphokine deficiency	http://purl.obolibrary.org/obo/MONDO_0009540	UMLS:C1855471|https://omim.org/entry/247650|http://identifiers.org/mesh/C565428	
NCBITaxon:53527	biolink:OrganismalEntity	Culex <subgenus>		GC_ID:1	mondo.json	Culex	http://purl.obolibrary.org/obo/NCBITaxon_53527		
MONDO:0010541	biolink:Disease	X-linked calvarial hyperostosis		GARD:0001058|MESH:C537963|Orphanet:391327|OMIM:302030	mondo.json	calvarial hyperostosis|isolated hyperostosis of the calvarium	http://purl.obolibrary.org/obo/MONDO_0010541	Orphanet:391327|https://omim.org/entry/302030|http://identifiers.org/mesh/C537963	ordo_disease
MONDO:0010540	biolink:Disease	bullous dystrophy, macular type	A genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family.	Orphanet:1867|OMIM:302000|GARD:0001038|MESH:C563065|UMLS:C0795974	mondo.json	epidermolysis bullosa, macular type|epidermolysis bullosa macular type|EBM|bullous dystrophy hereditary macular type|bullous dystrophy, hereditary macular type	http://purl.obolibrary.org/obo/MONDO_0010540	https://omim.org/entry/302000|UMLS:C0795974|Orphanet:1867|http://identifiers.org/mesh/C563065	gard_rare|ordo_disease
MONDO:0010543	biolink:Disease	Barth syndrome	Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.	OMIM:302060|ICD10CM:E78.71|GARD:0005890|SCTID:297231002|UMLS:C0574083|DOID:0050476|MESH:D056889|Orphanet:111|NCIT:C84585	mondo.json	Barth syndrome|X-linked cardioskeletal myopathy and neutropenia|Mga, type 2|3-methylglutaconic aciduria type 2|cardioskeletal myopathy with neutropenia and abnormal mitochondria|TAZ defect|Barth syndrome, X-linked recessive|MGA type 2|MGA2|cardioskeletal myopathy-neutropenia syndrome|3-methylglutaconic aciduria type II|3-Methylglutaconicaciduria type 2|3-Methylglutaconicaciduria type II|BTHS|MGA type II|3-Methylglutaconic aciduria, type 2|BARTH syndrome	http://purl.obolibrary.org/obo/MONDO_0010543	UMLS:C0574083|NCIT:C84585|Orphanet:111|http://identifiers.org/mesh/D056889|DOID:0050476|https://omim.org/entry/302060|http://purl.bioontology.org/ontology/ICD10CM/E78.71|http://identifiers.org/snomedct/297231002	gard_rare|ordo_disease
MONDO:0010542	biolink:Disease	dilated cardiomyopathy 3B	Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene.	OMIM:302045|ICD9:425.4|MESH:C580047|DOID:0110461|SCTID:702424003|DOID:0060561|UMLS:C3668940	mondo.json	cardiomyopathy, dilated, type 3B|cardiomyopathy, dilated, 3B|CMD3B|X-linked dilated cardiomyopathy|dilated cardiomyopathy caused by mutation in DMD|dilated cardiomyopathy 3B|DMD-related dilated cardiomyopathy|DMD dilated cardiomyopathy|dilated cardiomyopathy type 3B|cardiomyopathy, dilated, X-linked	http://purl.obolibrary.org/obo/MONDO_0010542	http://identifiers.org/snomedct/702424003|UMLS:C3668940|https://omim.org/entry/302045|http://identifiers.org/mesh/C580047|DOID:0110461	
MONDO:0010545	biolink:Disease	Nance-Horan syndrome	A syndrome characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.	ICD9:759.89|SCTID:445257004|MESH:C538336|GARD:0007161|DOID:0060599|Orphanet:627|OMIM:302350|UMLS:C0796085	mondo.json	cataract-dental syndrome|cataract X-linked with Hutchinsonian teeth|Nance-Horan syndrome|Mesiodens cataract syndrome|cataract, X-linked, with Hutchinsonian teeth|cataract dental syndrome|nance-horan syndrome, X-linked dominant|Mesiodens-cataract syndrome|NHS	http://purl.obolibrary.org/obo/MONDO_0010545	UMLS:C0796085|http://identifiers.org/mesh/C538336|http://identifiers.org/snomedct/445257004|Orphanet:627|https://omim.org/entry/302350|DOID:0060599	ordo_malformation_syndrome|gard_rare
MONDO:0010544	biolink:Disease	cataract 40	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene.	OMIM:302200|DOID:0110272|GARD:0008278|MESH:C535338|Orphanet:98991|Orphanet:98994	mondo.json	CTRCT40|cataract 40|NHS early-onset non-syndromic cataract|cataract 40 X-linked|cataract congenital X-linked|early-onset non-syndromic cataract caused by mutation in NHS|cataract, congenital, with microcornea or slight microphthalmia|cataract 40, X-linked|cataract type 40|cataract, congenital, X-linked|cataract 40 with or without microcornea|cataract, congenital total, with posterior sutural opacities in heterozygotes	http://purl.obolibrary.org/obo/MONDO_0010544	https://omim.org/entry/302200|http://identifiers.org/mesh/C535338|DOID:0110272	
UBERON:0006183	biolink:AnatomicalEntity	mesonephric glomerular capillary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006183		
MONDO:0022518	biolink:Disease	autoimmune inner ear disease	A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible.	GARD:0008582	mondo.json	AIED	http://purl.obolibrary.org/obo/MONDO_0022518		gard_rare
MONDO:0022519	biolink:Disease	autoimmune myocarditis	Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended.	GARD:0009519	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022519		gard_rare
MONDO:0022510	biolink:Disease	atlanto-axial fusion		MESH:C538196|GARD:0009219	mondo.json	atlantoaxial fusion|atlantoaxial joint fusion	http://purl.obolibrary.org/obo/MONDO_0022510	http://identifiers.org/mesh/C538196	gard_rare
UBERON:0018154	biolink:AnatomicalEntity	ligament of middle ear			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018154		
MONDO:0022512	biolink:Disease	obsolete atrial septal defect coronary sinus			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022512		
UBERON:0018151	biolink:AnatomicalEntity	skin of upper lip			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018151		
MONDO:0022513	biolink:Disease	atrophoderma of Pierini and Pasini	Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases.	ICD10CM:L90.3|SCTID:711524008|GARD:0005866	mondo.json	idiopathic atrophoderma of Pasini and Pierini|congenital atrophoderma of Pasini and Pierini	http://purl.obolibrary.org/obo/MONDO_0022513	http://purl.bioontology.org/ontology/ICD10CM/L90.3|http://identifiers.org/snomedct/711524008	gard_rare
MONDO:0009559	biolink:Disease	mandibulofacial dysostosis with mental deficiency		OMIM:248400|MESH:C565420|UMLS:C1855432	mondo.json	mandibulofacial dysostosis with intellectual disability|mandibulofacial dysostosis with mental retardation|mandibulofacial dysostosis with mental deficiency	http://purl.obolibrary.org/obo/MONDO_0009559	UMLS:C1855432|http://identifiers.org/mesh/C565420|https://omim.org/entry/248400	
MONDO:0010525	biolink:Disease	neural tube defects, X-linked		OMIM:301410|UMLS:C1845026|GARD:0000669|MESH:C536359	mondo.json	X-linked anencephaly/spina bifida|anencephaly and spina bifida X-linked|neural tube defects, X-linked|spina bifida, X-linked	http://purl.obolibrary.org/obo/MONDO_0010525	https://omim.org/entry/301410|UMLS:C1845026|http://identifiers.org/mesh/C536359	gard_rare
MONDO:0009558	biolink:Disease	Treacher Collins syndrome 3	Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene.	GARD:0009125|MESH:C535707|OMIM:248390	mondo.json	Treacher-Collins syndrome caused by mutation in POLR1C|TCS3|TREACHER COLLINS syndrome 3|Treacher Collins syndrome 3|mandibulofacial dysostosis, Treacher Collins type, autosomal recessive|POLR1C Treacher-Collins syndrome|Treacher Collins syndrome type 3	http://purl.obolibrary.org/obo/MONDO_0009558	https://omim.org/entry/248390|http://identifiers.org/mesh/C535707	gard_rare
MONDO:0009557	biolink:Disease	mandibuloacral dysplasia with type A lipodystrophy	A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk.	UMLS:CN236772|NCIT:C123417|GARD:0003374|OMIM:248370|SCTID:109419009|MESH:C535705|UMLS:CN206381|Orphanet:90153	mondo.json	MANDIBULOACRAL dysplasia with type A lipodystrophy|mandibuloacral dysplasia with type A lipodystrophy|lipodystrophy, type A, associated with Mandibuloacral dysplasia|craniomandibular Dermatodysostosis|mandibuloacral dysplasia|Mandibuloacral dysplasia with type a lipodystrophy, atypical|MADA	http://purl.obolibrary.org/obo/MONDO_0009557	UMLS:CN206381|http://identifiers.org/mesh/C535705|https://omim.org/entry/248370|UMLS:CN236772|http://identifiers.org/snomedct/109419009|NCIT:C123417|Orphanet:90153	gard_rare|ordo_clinical_subtype
MONDO:0010524	biolink:Disease	X-linked sideroblastic anemia with ataxia	A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.	DOID:0060064|UMLS:C4304338|SCTID:719816006|GARD:0000668|UMLS:C1845028|OMIM:301310|Orphanet:2802|DOID:0050554|MESH:C536358	mondo.json	XLSA-A|ASAT|sideroblastic anemia with spinocerebellar ataxia|X-linked sideroblastic anemia with spinocerebellar ataxia|anemia sideroblastic and spinocerebellar ataxia|X-linked sideroblastic anemia and ataxia|X-linked sideroblastic anemia and spinocerebellar ataxia|X-linked sideroblastic anemia with ataxia|X-linked sideroblastic Anemia and ataxia|anemia, Sex-linked hypochromic Siderobla|anemia, sideroblastic, and spinocerebellar ataxia|Pagon Bird Detter syndrome|Xlsa-A|anemia, sideroblastic, with ataxia, X-linked recessive|Pagon-Bird-Detter syndrome	http://purl.obolibrary.org/obo/MONDO_0010524	https://omim.org/entry/301310|http://identifiers.org/snomedct/719816006|UMLS:C1845028|Orphanet:2802|UMLS:C4304338|http://identifiers.org/mesh/C536358|DOID:0050554	ordo_disease
UBERON:0006170	biolink:AnatomicalEntity	mesonephric capsule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006170		
MONDO:0009556	biolink:Disease	malonic aciduria	Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).	SCTID:361203007|UMLS:C0342793|OMIM:248360|GARD:0003371|MESH:C535702|Orphanet:943	mondo.json	malonic acidemia|MCD deficiency|malonyl-CoA decarboxylase deficiency|Malonicaciduria|malonic aciduria	http://purl.obolibrary.org/obo/MONDO_0009556	https://omim.org/entry/248360|Orphanet:943|http://identifiers.org/mesh/C535702|UMLS:C0342793|http://identifiers.org/snomedct/361203007	ordo_disease
MONDO:0010527	biolink:Disease	obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome		OMIM:301590	mondo.json		http://purl.obolibrary.org/obo/MONDO_0010527	https://omim.org/entry/301590	
MONDO:0009555	biolink:Disease	malocclusion and short stature		MESH:C565421|UMLS:C1855453|OMIM:248350	mondo.json	malocclusion and short stature	http://purl.obolibrary.org/obo/MONDO_0009555	http://identifiers.org/mesh/C565421|UMLS:C1855453|https://omim.org/entry/248350	
MONDO:0010526	biolink:Disease	Fabry disease	Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.	MESH:D000795|MedDRA:10016016|OMIM:301500|NCIT:C84701|GARD:0006400|UMLS:C0002986|DOID:14499|SCTID:16652001|Orphanet:324	mondo.json	Fd|Anderson-Fabry disease|alpha galactosidase deficiency|ceramide trihexosidase deficiency|Fabry's disease|deficiency of melibiase|diffuse angiokeratoma|Alpha-galactosidase A deficiency|hereditary dystopic lipidosis|Fabry disease, Cardiac variant|Fabry disease|angiokeratoma, diffuse|angiokeratoma corporis diffusum|Gla deficiency	http://purl.obolibrary.org/obo/MONDO_0010526	https://omim.org/entry/301500|http://identifiers.org/snomedct/16652001|NCIT:C84701|UMLS:C0002986|Orphanet:324|http://identifiers.org/mesh/D000795|DOID:14499	ordo_disease|clingen
MONDO:0010529	biolink:Disease	X-linked spinocerebellar ataxia type 3	A form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.	UMLS:C1844936|MESH:C537315|OMIM:301790|Orphanet:85297|GARD:0009981|SCTID:719817002	mondo.json	X-linked ataxia-deafness syndrome|spinocerebellar ataxia X-linked type 3|spinocerebellar ataxia, X-linked 3|ataxia-deafness syndrome X-linked|Scax3|ataxia-deafness syndrome, X-linked|SCAX3|spinocerebellar ataxia, X-linked type 3	http://purl.obolibrary.org/obo/MONDO_0010529	UMLS:C1844936|http://identifiers.org/snomedct/719817002|https://omim.org/entry/301790|http://identifiers.org/mesh/C537315|Orphanet:85297	ordo_malformation_syndrome|gard_rare
MONDO:0009554	biolink:Disease	3MC syndrome 3	Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene.	Orphanet:2453|UMLS:C0796032|MESH:C535704|OMIM:248340|DOID:0060577	mondo.json	3MC syndrome caused by mutation in COLEC10|3MC syndrome type 3|3MC3|facial clefting syndrome, Gypsy type|3Mc syndrome type 3|COLEC10 3MC syndrome|3MC syndrome 3|Malpuech Facial clefting syndrome, formerly|Malpuech Facial clefting syndrome	http://purl.obolibrary.org/obo/MONDO_0009554	https://omim.org/entry/248340|http://identifiers.org/mesh/C535704|DOID:0060577|UMLS:C0796032|Orphanet:2453	
MONDO:0010528	biolink:Disease	anosmia	Loss of or impaired ability to smell. This may be caused by olfactory nerve diseases; paranasal sinus diseases; viral respiratory tract infections; craniocerebral trauma; smoking; and other conditions.	HP:0000458|UMLS:C0003126|MESH:D000857|SCTID:44169009	mondo.json	anosmia|anosmia (disease)	http://purl.obolibrary.org/obo/MONDO_0010528	http://identifiers.org/mesh/D000857|http://identifiers.org/snomedct/44169009|UMLS:C0003126	
MONDO:0009553	biolink:Disease	obsolete Plasmodium falciparum blood infection level		OMIM:248310	mondo.json	Plasmodium falciparum parasitemia|malaria, intensity of infection|Pfbi|Plasmodium falciparum blood infection level	http://purl.obolibrary.org/obo/MONDO_0009553	https://omim.org/entry/248310	
MONDO:0009552	biolink:Disease	mal de Meleda	Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.	ICD9:757.39|Orphanet:87503|SCTID:239069005|OMIM:248300|GARD:0000092|UMLS:C0025221|DOID:0060862	mondo.json	MDM|MAL DE Meleda|Meleda disease|transgrediens palmoplantar keratoderma of Siemens|keratosis palmoplantaris transgrediens of Siemens|mal de Meleda|keratosis palmoplantaris transgradiens of Siemens	http://purl.obolibrary.org/obo/MONDO_0009552	https://omim.org/entry/248300|DOID:0060862|Orphanet:87503|UMLS:C0025221|http://identifiers.org/snomedct/239069005	gard_rare|ordo_disease
GO:1905123	biolink:NamedThing	regulation of glucosylceramidase activity	Any process that modulates the frequency, rate or extent of glucosylceramidase activity.		mondo.json	regulation of glucocerebrosidase activity|regulation of beta-D-glucocerebrosidase activity|regulation of glucosphingosine glucosylhydrolase activity|regulation of psychosine hydrolase activity|regulation of GlcCer-beta-glucosidase activity|regulation of glucosylsphingosine beta-glucosidase activity|regulation of beta-glucocerebrosidase activity|regulation of beta-glucosylceramidase activity|regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|regulation of glucosylcerebrosidase activity|regulation of ceramide glucosidase activity|regulation of glucosylsphingosine beta-D-glucosidase activity|regulation of GCase activity|regulation of acid beta-glucosidase activity	http://purl.obolibrary.org/obo/GO_1905123		
GO:1905124	biolink:NamedThing	negative regulation of glucosylceramidase activity	Any process that stops, prevents or reduces the frequency, rate or extent of glucosylceramidase activity.		mondo.json	down-regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|negative regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|down regulation of acid beta-glucosidase activity|down-regulation of psychosine hydrolase activity|negative regulation of psychosine hydrolase activity|inhibition of glucosylcerebrosidase activity|down-regulation of glucosylsphingosine beta-glucosidase activity|down-regulation of glucosylcerebrosidase activity|down regulation of glucosylceramidase activity|negative regulation of glucosylsphingosine beta-glucosidase activity|negative regulation of glucosylcerebrosidase activity|down regulation of glucosphingosine glucosylhydrolase activity|inhibition of glucocerebrosidase activity|down regulation of beta-D-glucocerebrosidase activity|downregulation of glucocerebrosidase activity|inhibition of acid beta-glucosidase activity|negative regulation of acid beta-glucosidase activity|down-regulation of acid beta-glucosidase activity|down regulation of psychosine hydrolase activity|negative regulation of GCase activity|downregulation of GlcCer-beta-glucosidase activity|inhibition of beta-D-glucocerebrosidase activity|down regulation of glucosylsphingosine beta-glucosidase activity|inhibition of glucosphingosine glucosylhydrolase activity|downregulation of beta-glucocerebrosidase activity|negative regulation of beta-D-glucocerebrosidase activity|down-regulation of beta-D-glucocerebrosidase activity|inhibition of glucosylceramidase activity|downregulation of glucosphingosine glucosylhydrolase activity|downregulation of glucosylceramidase activity|down-regulation of ceramide glucosidase activity|negative regulation of ceramide glucosidase activity|downregulation of psychosine hydrolase activity|inhibition of psychosine hydrolase activity|down-regulation of glucosylsphingosine beta-D-glucosidase activity|inhibition of glucosylsphingosine beta-glucosidase activity|down regulation of GlcCer-beta-glucosidase activity|downregulation of glucosylsphingosine beta-glucosidase activity|downregulation of beta-glucosylceramidase activity|negative regulation of glucosylsphingosine beta-D-glucosidase activity|down regulation of beta-glucocerebrosidase activity|downregulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|down regulation of ceramide glucosidase activity|downregulation of glucosylcerebrosidase activity|inhibition of GlcCer-beta-glucosidase activity|negative regulation of glucocerebrosidase activity|down regulation of glucosylsphingosine beta-D-glucosidase activity|inhibition of beta-glucocerebrosidase activity|down-regulation of glucocerebrosidase activity|negative regulation of GlcCer-beta-glucosidase activity|down-regulation of GlcCer-beta-glucosidase activity|downregulation of acid beta-glucosidase activity|down-regulation of beta-glucocerebrosidase activity|negative regulation of beta-glucocerebrosidase activity|down regulation of beta-glucosylceramidase activity|down regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|down-regulation of glucosylceramidase activity|inhibition of beta-glucosylceramidase activity|down-regulation of glucosphingosine glucosylhydrolase activity|inhibition of ceramide glucosidase activity|downregulation of ceramide glucosidase activity|negative regulation of glucosphingosine glucosylhydrolase activity|down regulation of glucosylcerebrosidase activity|down regulation of glucocerebrosidase activity|downregulation of beta-D-glucocerebrosidase activity|negative regulation of beta-glucosylceramidase activity|inhibition of D-glucosyl-N-acylsphingosine glucohydrolase activity|inhibition of glucosylsphingosine beta-D-glucosidase activity|down-regulation of beta-glucosylceramidase activity|downregulation of glucosylsphingosine beta-D-glucosidase activity	http://purl.obolibrary.org/obo/GO_1905124		
MONDO:0009551	biolink:Disease	magnesium, elevated red cell		OMIM:248260	mondo.json	magnesium, elevated red cell	http://purl.obolibrary.org/obo/MONDO_0009551	https://omim.org/entry/248260	
MONDO:0009550	biolink:Disease	renal hypomagnesemia 3	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.	DOID:0060880|OMIM:248250|MESH:C537153|SCTID:725033008|Orphanet:31043	mondo.json	renal hypomagnesemia type 3|CLDN16 primary hypomagnesemia|hypercalciuria, childhood, self-limiting|isolated renal hypomagnesemia|hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis|familial primary hypomagnesemia caused by mutation in CLDN16|familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement|magnesium, defect in renal tubular transport of|primary hypomagnesemia caused by mutation in CLDN16|hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis hypercalciuria, childhood, self-limiting, included|FHHNC without severe ocular involvement|hypomagnesemia, primary, due to defect in renal tubular Transport Of magnesium|HOMG3|primary hypomagnesemia due to defect in renal tubular transport of magnesium|hypomagnesemia, primary, due to defect in renal tubular Transport of magnesium|CLDN16 familial primary hypomagnesemia|hypomagnesemia, isolated renal|hypomagnesemia 3, renal	http://purl.obolibrary.org/obo/MONDO_0009550	DOID:0060880|http://identifiers.org/mesh/C537153|Orphanet:31043|https://omim.org/entry/248250|http://identifiers.org/snomedct/725033008	ordo_disease
GO:1905114	biolink:NamedThing	cell surface receptor signaling pathway involved in cell-cell signaling	Any cell surface receptor signaling pathway that is involved in cell-cell signaling.		mondo.json	cell surface receptor linked signal transduction involved in cell-cell signaling|cell surface receptor linked signalling pathway involved in cell-cell signalling|cell surface receptor linked signaling pathway involved in cell-cell signaling|cell surface receptor linked signaling pathway involved in cell-cell signalling|cell surface receptor signaling pathway involved in cell-cell signalling|cell surface receptor linked signal transduction involved in cell-cell signalling|cell surface receptor linked signalling pathway involved in cell-cell signaling	http://purl.obolibrary.org/obo/GO_1905114		
MONDO:0010530	biolink:Disease	obsolete anus, imperforate			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010530		
MONDO:0010532	biolink:Disease	infantile-onset X-linked spinal muscular atrophy	A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.	SCTID:719836007|GARD:0008521|UMLS:C1844934|MESH:C535380|Orphanet:1145|OMIM:301830	mondo.json	SMAX2|X-linked spinal muscular atrophy type 2|arthrogryposis, X-linked, type 1|spinal muscular atrophy, X-linked 2, infantile, X-linked recessive|spinal muscular atrophy, X-linked 2|spinal muscular atrophy, X-linked lethal infantile|AMC, distal, X-linked|spinal muscular atrophy, X-linked type 2|spinal muscular atrophy with arthrogryposis|spinal muscular atrophy, infantile X-linked|X-linked distal arthrogryposis multiplex congenita|arthrogryposis multiplex congenita, distal, X-linked	http://purl.obolibrary.org/obo/MONDO_0010532	https://omim.org/entry/301830|Orphanet:1145|http://identifiers.org/snomedct/719836007|UMLS:C1844934|http://identifiers.org/mesh/C535380	ordo_disease
UBERON:0006175	biolink:AnatomicalEntity	pronephric distal tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006175		
MONDO:0010531	biolink:Disease	contractures-ectodermal dysplasia-cleft lip/palate syndrome	Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.	GARD:0001515|SCTID:720746006|Orphanet:1484|OMIM:301815	mondo.json	Ladda Zonana Ramer syndrome|Ladda-Zonana-Ramer syndrome|contractures ectodermal dysplasia cleft lip palate|congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment|arthrogryposis, ectodermal dysplasia, cleft LIP/palate, and developmental delay	http://purl.obolibrary.org/obo/MONDO_0010531	http://identifiers.org/snomedct/720746006|Orphanet:1484|https://omim.org/entry/301815	ordo_malformation_syndrome
MONDO:0010534	biolink:Disease	X-linked spinocerebellar ataxia type 4	Spinocerebellar ataxia, X-linked, type 4 is characterised by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.	SCTID:719818007|UMLS:C1844933|GARD:0009980|OMIM:301840|MESH:C537316|Orphanet:85292	mondo.json	X-linked ataxia-dementia syndrome|spinocerebellar ataxia, X-linked 4|ataxia-dementia syndrome, X-linked|Scax4|ataxia-dementia syndrome X-linked|SCAX4|spinocerebellar ataxia X-linked type 4|spinocerebellar ataxia, X-linked type 4	http://purl.obolibrary.org/obo/MONDO_0010534	https://omim.org/entry/301840|http://identifiers.org/mesh/C537316|Orphanet:85292|http://identifiers.org/snomedct/719818007|UMLS:C1844933	gard_rare|ordo_disease
UBERON:0006173	biolink:AnatomicalEntity	pronephric proximal tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006173		
MONDO:0010533	biolink:Disease	Arts syndrome	Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.	Orphanet:1187|SCTID:702441001|MESH:C535388|DOID:0050647|ICD9:277.2|OMIM:301835|UMLS:C0796028|GARD:0008756	mondo.json	MRXS18|intellectual disability, X-linked, syndromic 18|ataxia, fatal X-linked, with deafness and loss of vision|intellectual disability, X-linked, syndromic, Arts type|fatal X-linked ataxia with deafness and loss of vision|Arts syndrome|MRXSARTS|syndromic X-linked intellectual disability 18|syndromic X-linked mental retardation 18|mental retardation, X-linked, syndromic 18|Arts|X-linked fatal ataxia with deafness and loss of vision|mental retardation, X-linked, syndromic, Arts type|syndromic X-linked intellectual disability Arts type|lethal ataxia with deafness and optic atrophy|syndromic X-linked mental retardation Arts type|Arts syndrome, X-linked recessive|lethal ataxia-deafness-optic atrophy	http://purl.obolibrary.org/obo/MONDO_0010533	https://omim.org/entry/301835|http://identifiers.org/snomedct/702441001|UMLS:C0796028|Orphanet:1187|DOID:0050647|http://identifiers.org/mesh/C535388	ordo_disease|clingen|gard_rare
MONDO:0022504	biolink:Disease	arthrogryposis spinal muscular atrophy		GARD:0000795	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022504		gard_rare
UBERON:0018150	biolink:AnatomicalEntity	skin of lower lip			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018150		
MONDO:0022509	biolink:Disease	asternia	Asternia, also known as a complete congenital sternal cleft, is a condition in which a bone called thesternum does not form properly.The sternumusuallyconnects to the ribs to form the ribcage. Individuals with asternia are missing this bone and may appear to have a rut or trench under the skin in the middle of the chest. Most individuals with asternia have no symptoms, though some may have difficulty breathing. Asternia is sometimes associated with other conditions, such as heart problems. The cause of asternia is currently unknown. Treatment consists of surgery to close the gap between the ribs.	GARD:0009221	mondo.json	absent sternum	http://purl.obolibrary.org/obo/MONDO_0022509		gard_rare
GO:0006942	biolink:NamedThing	regulation of striated muscle contraction	Any process that modulates the frequency, rate or extent of striated muscle contraction.		mondo.json		http://purl.obolibrary.org/obo/GO_0006942		
GO:0006940	biolink:NamedThing	regulation of smooth muscle contraction	Any process that modulates the frequency, rate or extent of smooth muscle contraction.		mondo.json		http://purl.obolibrary.org/obo/GO_0006940		
GO:0006941	biolink:NamedThing	striated muscle contraction	A process in which force is generated within striated muscle tissue, resulting in the shortening of the muscle. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Striated muscle is a type of muscle in which the repeating units (sarcomeres) of the contractile myofibrils are arranged in registry throughout the cell, resulting in transverse or oblique striations observable at the level of the light microscope.		mondo.json	sarcomeric muscle contraction	http://purl.obolibrary.org/obo/GO_0006941		
UBERON:0006208	biolink:AnatomicalEntity	auditory hillocks			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006208		
NCBITaxon:6685	biolink:OrganismalEntity	Penaeidae		GC_ID:1	mondo.json	penaeid shrimps	http://purl.obolibrary.org/obo/NCBITaxon_6685		
HGNC:4612	biolink:NamedThing	GSC			mondo.json		http://identifiers.org/hgnc/4612		
NCBITaxon:6684	biolink:OrganismalEntity	Dendrobranchiata		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6684		
UBERON:0006207	biolink:AnatomicalEntity	aortico-pulmonary spiral septum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006207		
NCBITaxon:147389	biolink:OrganismalEntity	Triticeae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_147389		
NCBITaxon:6683	biolink:OrganismalEntity	Decapoda		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6683		
NCBITaxon:6682	biolink:OrganismalEntity	Eucarida		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6682		
NCBITaxon:6681	biolink:OrganismalEntity	Malacostraca		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6681		
UBERON:0008861	biolink:AnatomicalEntity	pyloric gastric gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008861		
CHEBI:16294	biolink:ChemicalSubstance	barbituric acid	A barbiturate, the structure of which is that of perhydropyrimidine substituted at C-2, -4 and -6 by oxo groups.  Barbituric acid is the parent compound of barbiturate drugs, although it is not itself pharmacologically active.		mondo.json	Barbitursaeure|Malonylurea|pyrimidine-2,4,6(1H,3H,5H)-trione|Barbituric acid|2,4,6(1H,3H,5H)-pyrimidinetrione|Malonylharnstoff	http://purl.obolibrary.org/obo/CHEBI_16294		
GO:0006955	biolink:NamedThing	immune response	Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat.		mondo.json		http://purl.obolibrary.org/obo/GO_0006955		
GO:0006956	biolink:NamedThing	complement activation	Any process involved in the activation of any of the steps of the complement cascade, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes; the initial steps of complement activation involve one of three pathways, the classical pathway, the alternative pathway, and the lectin pathway, all of which lead to the terminal complement pathway.		mondo.json	complement response|complement cascade|complement activity	http://purl.obolibrary.org/obo/GO_0006956		
GO:0006954	biolink:NamedThing	inflammatory response	The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.		mondo.json	inflammation	http://purl.obolibrary.org/obo/GO_0006954		
NCBITaxon:147387	biolink:OrganismalEntity	Poeae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_147387		
GO:0006952	biolink:NamedThing	defense response	Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack.		mondo.json	defense/immunity protein activity|antimicrobial peptide activity|defence response|physiological defense response	http://purl.obolibrary.org/obo/GO_0006952		
NCBITaxon:6687	biolink:OrganismalEntity	Penaeus monodon		GC_ID:1	mondo.json	black tiger shrimp|Penaeus durbani|Penaeus carinatus|giant tiger prawn|Penaeus (Penaeus) monodon|tiger prawn|Penaeus bubulus	http://purl.obolibrary.org/obo/NCBITaxon_6687		
GO:0006950	biolink:NamedThing	response to stress	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation).		mondo.json	response to biotic stress|response to abiotic stress	http://purl.obolibrary.org/obo/GO_0006950		
GO:0043902	biolink:NamedThing	obsolete positive regulation of multi-organism process	OBSOLETE. Any process that activates or increases the frequency, rate or extent of a multi-organism process, a process in which an organism has an effect on another organism of the same or different species.		mondo.json		http://purl.obolibrary.org/obo/GO_0043902		
GO:0043901	biolink:NamedThing	obsolete negative regulation of multi-organism process	OBSOLETE. Any process that stops, prevents, or reduces the frequency, rate or extent of a multi-organism process, a process in which an organism has an effect on another organism of the same or different species.		mondo.json		http://purl.obolibrary.org/obo/GO_0043901		
GO:0043903	biolink:NamedThing	regulation of biological process involved in symbiotic interaction	Any process that modulates the frequency, rate or extent of symbiosis, an interaction between two organisms living together in more or less intimate association.		mondo.json	regulation of symbiotic process|regulation of symbiosis, encompassing mutualism through parasitism|regulation of interspecies interactions between organisms	http://purl.obolibrary.org/obo/GO_0043903		
UBERON:0008856	biolink:AnatomicalEntity	stomach muscularis externa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008856		
UBERON:0008858	biolink:AnatomicalEntity	pyloric canal			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008858		
UBERON:0008859	biolink:AnatomicalEntity	cardiac gastric gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008859		
GO:0043900	biolink:NamedThing	obsolete regulation of multi-organism process	OBSOLETE. Any process that modulates the frequency, rate or extent of a multi-organism process, a process in which an organism has an effect on another organism of the same or different species.		mondo.json		http://purl.obolibrary.org/obo/GO_0043900		
HGNC:4624	biolink:NamedThing	GSS			mondo.json		http://identifiers.org/hgnc/4624		
NCBITaxon:6692	biolink:OrganismalEntity	Pleocyemata		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6692		
HGNC:4620	biolink:NamedThing	GSN			mondo.json		http://identifiers.org/hgnc/4620		
GO:0006959	biolink:NamedThing	humoral immune response	An immune response mediated through a body fluid.		mondo.json		http://purl.obolibrary.org/obo/GO_0006959		
NCBITaxon:6657	biolink:OrganismalEntity	Crustacea		GC_ID:1	mondo.json	crustaceans|crustaceans	http://purl.obolibrary.org/obo/NCBITaxon_6657		
NCBITaxon:6656	biolink:OrganismalEntity	Arthropoda		GC_ID:1	mondo.json	arthropods|arthropods	http://purl.obolibrary.org/obo/NCBITaxon_6656		
GO:0006921	biolink:NamedThing	cellular component disassembly involved in execution phase of apoptosis	The breakdown of structures such as organelles, proteins, or other macromolecular structures during apoptosis.		mondo.json	cellular component disassembly involved in apoptosis|cellular component disassembly involved in apoptotic process|disassembly of cell structures	http://purl.obolibrary.org/obo/GO_0006921		
CHEBI:65256	biolink:ChemicalSubstance	antimicrobial food preservative	A food preservative which prevents decomposition of food by preventing the growth of fungi or bacteria. In European countries, E-numbers for permitted food preservatives are from E200 to E299, divided into sorbates (E200-209), benzoates (E210-219), sulfites (E220-229), phenols and formates (E230-239), nitrates (E240-259), acetates (E260-269), lactates (E270-279), propionates (E280-289) and others (E290-299).		mondo.json	antimicrobial food preservatives|antimicrobial preservatives|antimicrobial preservative	http://purl.obolibrary.org/obo/CHEBI_65256		
CHEBI:65255	biolink:ChemicalSubstance	food preservative	Substances which are added to food in order to prevent decomposition caused by  microbial growth or by undesirable chemical changes.		mondo.json	food preservatives	http://purl.obolibrary.org/obo/CHEBI_65255		
UBERON:0008843	biolink:AnatomicalEntity	gubernaculum testis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008843		
GO:0018904	biolink:NamedThing	ether metabolic process	The chemical reactions and pathways involving organic ethers, any anhydride of the general formula R1-O-R2, formed between two identical or nonidentical organic hydroxy compounds.		mondo.json	organic ether metabolic process|ether metabolism|organic ether metabolism	http://purl.obolibrary.org/obo/GO_0018904		
UBERON:0008844	biolink:AnatomicalEntity	gubernaculum (female)			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008844		
UBERON:0008845	biolink:AnatomicalEntity	nonskeletal ligament			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008845		
UBERON:0008846	biolink:AnatomicalEntity	skeletal ligament			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008846		
NCBITaxon:147368	biolink:OrganismalEntity	Pooideae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_147368		
NCBITaxon:89593	biolink:OrganismalEntity	Craniata <chordates>		GC_ID:1	mondo.json	Craniata	http://purl.obolibrary.org/obo/NCBITaxon_89593		
GO:0006928	biolink:NamedThing	obsolete movement of cell or subcellular component	OBSOLETE. The directed, self-propelled movement of a cell or subcellular component without the involvement of an external agent such as a transporter or a pore.		mondo.json	cellular component motion|cell movement|cellular component movement	http://purl.obolibrary.org/obo/GO_0006928		
PO:0025233	biolink:NamedThing	portion of embryo plant tissue	A portion of plant tissue (PO:0009007) that is part of a plant embryo (PO:0009009).	PO_GIT:338	mondo.json	植物胚性組織 の一部   (Japanese, exact)|portion of embryonic plant tissue (exact)|portion of embryo tissue (broad)|tejido embri&#243nico vegetal (Spanish, exact)	http://purl.obolibrary.org/obo/PO_0025233		
GO:0006935	biolink:NamedThing	chemotaxis	The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis).		mondo.json	taxis in response to chemical stimulus	http://purl.obolibrary.org/obo/GO_0006935		
GO:0006936	biolink:NamedThing	muscle contraction	A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis.		mondo.json		http://purl.obolibrary.org/obo/GO_0006936		
UBERON:0008835	biolink:AnatomicalEntity	hepatic diverticulum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008835		
UBERON:0008836	biolink:AnatomicalEntity	liver bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008836		
UBERON:0008837	biolink:AnatomicalEntity	palmar/plantar part of autopod			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008837		
CHEBI:53212	biolink:ChemicalSubstance	isocyanates	Organonitrogen compounds that are derivatives of isocyanic acid; compounds containing the isocyanate functional group -N=C=O (as opposed to the cyanate group, -O-C#N).		mondo.json	iso-cyanates	http://purl.obolibrary.org/obo/CHEBI_53212		
GO:0006939	biolink:NamedThing	smooth muscle contraction	A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length.		mondo.json	visceral muscle contraction	http://purl.obolibrary.org/obo/GO_0006939		
GO:0006937	biolink:NamedThing	regulation of muscle contraction	Any process that modulates the frequency, rate or extent of muscle contraction.		mondo.json		http://purl.obolibrary.org/obo/GO_0006937		
MONDO:0009609	biolink:Disease	methylcobalamin deficiency type cblG	Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.	GARD:0003577|EFO:0005597|SCTID:721187005|OMIM:250940|Orphanet:2170|DOID:0050733|GARD:0002733	mondo.json	HMAG|homocystinuria-megaloblastic anemia, cblG complementation type|homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblG complementation type|functional methionine synthase deficiency type cblG|methylcobalamin deficiency Cbl G type|methylmalonic aciduria and homocystinuria type cblG|methylcobalamin deficiency type cblG|methionine synthase deficiency|methylcobalamin deficiency, cblG type|cblG|homocystinuria due to defect in methylation Cbl g	http://purl.obolibrary.org/obo/MONDO_0009609	DOID:0050733|http://identifiers.org/snomedct/721187005|https://omim.org/entry/250940|Orphanet:2170	gard_rare|ordo_clinical_subtype
GO:0006903	biolink:NamedThing	vesicle targeting	The process in which vesicles are directed to specific destination membranes. Targeting involves coordinated interactions among cytoskeletal elements (microtubules or actin filaments), motor proteins, molecules at the vesicle membrane and target membrane surfaces, and vesicle cargo.		mondo.json		http://purl.obolibrary.org/obo/GO_0006903		
MONDO:0009608	biolink:Disease	methionine malabsorption syndrome		OMIM:250900|UMLS:C0268622|SCTID:45812003|MESH:C562682	mondo.json	Smith-strang disease|oasthouse urine disease|methionine malabsorption syndrome	http://purl.obolibrary.org/obo/MONDO_0009608	http://identifiers.org/mesh/C562682|https://omim.org/entry/250900|http://identifiers.org/snomedct/45812003|UMLS:C0268622	
GO:0006900	biolink:NamedThing	vesicle budding from membrane	The evagination of a membrane, resulting in formation of a vesicle.		mondo.json	single-organism membrane budding|vesicle biosynthesis|single organism membrane budding|vesicle budding|membrane evagination|nonselective vesicle assembly|vesicle formation	http://purl.obolibrary.org/obo/GO_0006900		
MONDO:0009607	biolink:Disease	methionine adenosyltransferase deficiency	Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.	OMIM:250850|NCIT:C123435|GARD:0008397|Orphanet:168598	mondo.json	methionine adenosyltransferase I/III deficiency|isolated persistent hypermethioninemia|MAT deficiency|methionine adenosyltransferase deficiency|hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency|Mat I/III deficiency|brain demyelination due to methionine adenosyltransferase deficiency|hypermethioninemia, isolated persistent|MAT I/III deficiency|methionine adenosyltransferase deficiency, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009607	Orphanet:168598|https://omim.org/entry/250850|NCIT:C123435	ordo_disease
MONDO:0009606	biolink:Disease	methemoglobinemia due to deficiency of methemoglobin reductase		OMIM:250800|GARD:0003909|UMLS:C0268193	mondo.json	methemoglobinemia, type I|NADH cytochrome B5 reductase deficiency|NADH methemoglobin reductase deficiency|methemoglobinemia, congenital, autosomal recessive|methemoglobinemia, type II|NADH-dependent methemoglobin reductase deficiency|NADH-cytochrome B5 reductase deficiency, type 2|NADH-cytochrome B5 reductase deficiency|methemoglobinemia, type 2|NADH-cytochrome B5 reductase deficiency, type 1|methemoglobinemia due to deficiency of methemoglobin reductase|methemoglobinemia, type 1|NADH diaphorase deficiency	http://purl.obolibrary.org/obo/MONDO_0009606	https://omim.org/entry/250800	
MONDO:0009605	biolink:Disease	methemoglobinemia type 4	Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene.	MESH:C567102|OMIM:250790|UMLS:C2673427	mondo.json	methemoglobinemia and ambiguous genitalia|CYB5A methemoglobinemia|methemoglobinemia due to deficiency of cytochrome B5, formerly|methemoglobinemia due to deficiency of cytochrome B5|methemoglobinemia caused by mutation in CYB5A|methemoglobinemia type 4|isolated 17,20-lyase deficiency, Pure|methemoglobinemia type IV, formerly|METAG|methemoglobinemia type IV	http://purl.obolibrary.org/obo/MONDO_0009605	UMLS:C2673427|https://omim.org/entry/250790|http://identifiers.org/mesh/C567102	
MONDO:0009604	biolink:Disease	methemoglobin reductase deficiency		OMIM:250700|MESH:C563171|SCTID:234397008|UMLS:C0472786	mondo.json	TPNH-methemoglobin reductase deficiency|methemoglobin reductase deficiency|NADPH-dependent methemoglobin reductase deficiency	http://purl.obolibrary.org/obo/MONDO_0009604	http://identifiers.org/mesh/C563171|https://omim.org/entry/250700|UMLS:C0472786|http://identifiers.org/snomedct/234397008	
MONDO:0009603	biolink:Disease	3-hydroxyisobutyryl-CoA hydrolase deficiency	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.	SCTID:722488009|MESH:C562803|OMIM:250620|Orphanet:88639|GARD:0013202	mondo.json	neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency|valine metabolic defect|beta-hydroxyisobutyryl Coa deacylase deficiency|methacrylic acid toxicity|3-hydroxyisobutyryl-CoA hydrolase deficiency|HIBCH deficiency|methacrylic aciduria|Beta-hydroxyisobutyryl-CoA deacylase deficiency|3-hydroxyisobutryl-CoA hydrolase deficiency|HIBCHD	http://purl.obolibrary.org/obo/MONDO_0009603	http://identifiers.org/snomedct/722488009|http://identifiers.org/mesh/C562803|https://omim.org/entry/250620|Orphanet:88639	ordo_disease
MONDO:0009602	biolink:Disease	metaphyseal modeling abnormality, skin lesions, and spastic paraplegia		OMIM:250500|GARD:0000217|MESH:C535875|UMLS:C1855164	mondo.json	Roy Maroteaux Kremp syndrome|metaphyseal modeling abnormality, skin lesions, and spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0009602	http://identifiers.org/mesh/C535875|https://omim.org/entry/250500|UMLS:C1855164	gard_rare
MONDO:0009601	biolink:Disease	metaphyseal dysplasia without hypotrichosis		UMLS:C1834821|OMIM:250460|GARD:0010622|MESH:C563574|Orphanet:1838	mondo.json	cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency|cartilage-hair hypoplasia variant, skeletal manifestations only|MDWH|CHHV|metaphyseal dysplasia without hypotrichosis	http://purl.obolibrary.org/obo/MONDO_0009601	http://identifiers.org/mesh/C563574|https://omim.org/entry/250460|UMLS:C1834821|Orphanet:1838	gard_rare
MONDO:0009600	biolink:Disease	metaphyseal dysplasia, anetoderma, and optic atrophy		MESH:C565395|OMIM:250450|UMLS:C1855174	mondo.json	metaphyseal dysplasia, anetoderma, and optic atrophy	http://purl.obolibrary.org/obo/MONDO_0009600	https://omim.org/entry/250450|UMLS:C1855174|http://identifiers.org/mesh/C565395	
UBERON:0018227	biolink:AnatomicalEntity	pulmonary lymphatic vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018227		
UBERON:0018226	biolink:AnatomicalEntity	pulmonary part of lymphatic system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018226		
UBERON:0006245	biolink:AnatomicalEntity	humerus cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006245		
UBERON:0006242	biolink:AnatomicalEntity	gall bladder primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006242		
UBERON:0006241	biolink:AnatomicalEntity	future spinal cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006241		
NCBITaxon:436489	biolink:OrganismalEntity	Saurischia		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_436489		
UBERON:0006240	biolink:AnatomicalEntity	future forebrain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006240		
NCBITaxon:436486	biolink:OrganismalEntity	Dinosauria		GC_ID:1	mondo.json	dinosaurs|dinosaur	http://purl.obolibrary.org/obo/NCBITaxon_436486		
GO:2000542	biolink:NamedThing	negative regulation of gastrulation	Any process that stops, prevents or reduces the frequency, rate or extent of gastrulation.		mondo.json		http://purl.obolibrary.org/obo/GO_2000542		
MONDO:0010600	biolink:Disease	granulomatous disease, chronic, X-linked		UMLS:C1841825|MESH:C564210|OMIM:306400|OMIM:138990|DOID:0070195|DOID:0070190	mondo.json	granulomatous disease, chronic, X-linked|chronic granulomatous disease, X-linked, X-linked recessive|cytochrome B-positive granulomatous disease, chronic, X-linked|chronic granulomatous disease, atypical|chronic granulomatous disease, X-linked|CDGX|granulomatous disease, chronic, autosomal dominant type|CGD|granulomatous disease, chronic, X-linked, variant|cytochrome B-negative granulomatous disease, chronic, X-linked	http://purl.obolibrary.org/obo/MONDO_0010600	http://identifiers.org/mesh/C564210|UMLS:C1841825|DOID:0070195|https://omim.org/entry/306400|https://omim.org/entry/138990	
GO:0043933	biolink:NamedThing	protein-containing complex organization	Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein complex.		mondo.json	cellular macromolecular complex organization|protein complex subunit organisation|protein-containing complex subunit organization|cellular macromolecular complex subunit organization|macromolecular complex subunit organisation|protein complex subunit organization|macromolecular complex organization|cellular macromolecular complex subunit organisation|macromolecular complex subunit organization	http://purl.obolibrary.org/obo/GO_0043933		
GO:0043932	biolink:NamedThing	ossification involved in bone remodeling	The formation or growth of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in response to injury or other physical, physiological or environmental stress stimuli.		mondo.json	ossification involved in bone remodelling	http://purl.obolibrary.org/obo/GO_0043932		
GO:2000543	biolink:NamedThing	positive regulation of gastrulation	Any process that activates or increases the frequency, rate or extent of gastrulation.		mondo.json		http://purl.obolibrary.org/obo/GO_2000543		
GO:0006909	biolink:NamedThing	phagocytosis	A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles.		mondo.json		http://purl.obolibrary.org/obo/GO_0006909		
GO:0006906	biolink:NamedThing	vesicle fusion	Fusion of the membrane of a transport vesicle with its target membrane.		mondo.json		http://purl.obolibrary.org/obo/GO_0006906		
UBERON:0006247	biolink:AnatomicalEntity	iliac pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006247		
UBERON:0006246	biolink:AnatomicalEntity	humerus pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006246		
HGNC:4651	biolink:NamedThing	GTF2E2			mondo.json		http://identifiers.org/hgnc/4651		
MONDO:0009619	biolink:Disease	microcephaly-micromelia syndrome		MESH:C565382|Orphanet:572768|OMIM:251230|UMLS:C1855079	mondo.json	MIMIS|microcephaly-micromelia syndrome	http://purl.obolibrary.org/obo/MONDO_0009619	https://omim.org/entry/251230|UMLS:C1855079|http://identifiers.org/mesh/C565382|Orphanet:572768	
GO:0006911	biolink:NamedThing	phagocytosis, engulfment	The internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis, including the membrane and cytoskeletal processes required, which involves one of three mechanisms: zippering of pseudopods around a target via repeated receptor-ligand interactions, sinking of the target directly into plasma membrane of the phagocytosing cell, or induced uptake via an enhanced membrane ruffling of the phagocytosing cell similar to macropinocytosis.		mondo.json	phagosome biosynthesis|phagosome formation	http://purl.obolibrary.org/obo/GO_0006911		
MONDO:0009618	biolink:Disease	microcephaly-cardiomyopathy syndrome	A syndrome characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive.	Orphanet:2515|GARD:0003609|SCTID:719380003|OMIM:251220|UMLS:C1855080|MESH:C536711	mondo.json	severe microcephaly with mental retardation and dilated cardiomyopathy|microcephaly-cardiomyopathy|Winship-Viljoen-Leary syndrome|severe microcephaly and self-limiting dilated cardiomyopathy|microcephaly with cardiomyopathy|severe microcephaly with intellectual disability and dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0009618	http://identifiers.org/snomedct/719380003|https://omim.org/entry/251220|Orphanet:2515|UMLS:C1855080|http://identifiers.org/mesh/C536711	ordo_malformation_syndrome
MONDO:0009617	biolink:Disease	microcephaly 1, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene.	DOID:0070285|MESH:C565384|Orphanet:52183|OMIM:251200|UMLS:C1855081	mondo.json	autosomal recessive primary microcephaly caused by mutation in MCPH1|MCPH1 autosomal recessive primary microcephaly|premature chromosome condensation syndrome|PCC syndrome|MCPH1|microcephaly 1, primary, autosomal recessive|premature chromosome condensation with microcephaly and mental retardation|premature chromosome condensation with microcephaly and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0009617	https://omim.org/entry/251200|Orphanet:52183|DOID:0070285|UMLS:C1855081|http://identifiers.org/mesh/C565384	
MONDO:0009616	biolink:Disease	microcephalic primordial dwarfism, Toriello type	Microcephalic primordial dwarfism, Toriello type is characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.	MESH:C537321|UMLS:C1855089|GARD:0003602|SCTID:715482004|Orphanet:2643|OMIM:251190	mondo.json	microcephalic primordial dwarfism and cataracts|microcephalic primordial dwarfism, Toriello type|microcephalic primordial dwarfism Toriello type	http://purl.obolibrary.org/obo/MONDO_0009616	https://omim.org/entry/251190|Orphanet:2643|http://identifiers.org/mesh/C537321|UMLS:C1855089|http://identifiers.org/snomedct/715482004	ordo_malformation_syndrome|gard_rare
GO:0006910	biolink:NamedThing	phagocytosis, recognition	The initial step in phagocytosis involving adhesion to bacteria, immune complexes and other particulate matter, or an apoptotic cell and based on recognition of factors such as bacterial cell wall components, opsonins like complement and antibody or protein receptors and lipids like phosphatidyl serine, and leading to intracellular signaling in the phagocytosing cell.		mondo.json	recognition of phagocytosed substance by phagocytic cell	http://purl.obolibrary.org/obo/GO_0006910		
MONDO:0009615	biolink:Disease	methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.	SCTID:765137006|OMIM:251120|UMLS:C1855100|Orphanet:308425|MESH:C565386	mondo.json	methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency|methylmalonyl-Coa racemase deficiency|MCEE deficiency|methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency|methylmalonyl-CoA epimerase deficiency|methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency|methylmalonic aciduria III, formerly|methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency|methylmalonic aciduria III|methylmalonyl-Coa epimerase deficiency with sepiapterin reductase deficiency	http://purl.obolibrary.org/obo/MONDO_0009615	Orphanet:308425|UMLS:C1855100|http://identifiers.org/mesh/C565386|http://identifiers.org/snomedct/765137006|https://omim.org/entry/251120	ordo_disease
NCBITaxon:4069	biolink:OrganismalEntity	Solanales		GC_ID:1	mondo.json	Solananae	http://purl.obolibrary.org/obo/NCBITaxon_4069		
MONDO:0009614	biolink:Disease	methylmalonic aciduria, cblB type	An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial.	OMIM:251110|GARD:0009479|UMLS:C1855102|DOID:0060743|NCIT:C142172|Orphanet:79311	mondo.json	methylmalonic aciduria, cblB type|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type|vitamin B12-responsive methylmalonic aciduria, type cblB|methylmalonic acidemia cblB type|methylmalonic aciduria, vitamin B12-responsive, cblB type|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type|methylmalonic aciduria cblB type|methylmalonic acidemia, cblB type|vitamin B12-responsive methylmalonic acidemia type cblB	http://purl.obolibrary.org/obo/MONDO_0009614	DOID:0060743|UMLS:C1855102|Orphanet:79311|NCIT:C142172|https://omim.org/entry/251110	ordo_clinical_subtype
MONDO:0009613	biolink:Disease	methylmalonic aciduria, cblA type	An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein.	OMIM:251100|UMLS:C0342722|UMLS:C1855109|UMLS:C0342721|DOID:0060742|SCTID:82245003|NCIT:C142171|SCTID:73843004|GARD:0005500|Orphanet:79310	mondo.json	methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type|MMA Cbl A type|methylmalonic aciduria cblA type|Methylmalonic aciduria, vitamin B12-responsive, cblA type|vitamin B12-responsive methylmalonic aciduria type cblA|cobalamin locus B variant|cblA methylmalonic acidemia|cobalamin locus A variant|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type|cblB methylmalonic acidemia|methylmalonic acidemia cblA type|cobalamin B disease|cblB - cobalamin locus b|cobalamin A disease|vitamin B12-responsive methylmalonic acidemia type cblA|methylmalonic acidemia, cblA type|cblA - cobalamin locus a|methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA complementation type|methylmalonic aciduria, cblA type	http://purl.obolibrary.org/obo/MONDO_0009613	DOID:0060742|http://identifiers.org/snomedct/82245003|UMLS:C1855109|http://identifiers.org/snomedct/73843004|Orphanet:79310|UMLS:C0342722|UMLS:C0342721|https://omim.org/entry/251100|NCIT:C142171	ordo_clinical_subtype
MONDO:0009612	biolink:Disease	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-.	Orphanet:27|OMIM:251000|MESH:C565390|NCIT:C148366|DOID:0060740|UMLS:C1855114|GARD:0003586	mondo.json	methylmalonic aciduria, mut type|methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|methylmalonic aciduria, mut(0) type|vitamin B12-unresponsive methylmalonic aciduria|methylmalonic aciduria, mut(-) type|methylmalonic acidemia due to methylmalonyl-Coa mutase deficiency MMA due to MCM deficiency|methylmalonyl-CoA mutase deficiency|methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency|MCM deficiency|methylmalonic aciduria mut type|methylmalonyl-Coenzyme A mutase deficiency|vitamin B12-unresponsive methylmalonic acidemia	http://purl.obolibrary.org/obo/MONDO_0009612	DOID:0060740|Orphanet:27|NCIT:C148366|UMLS:C1855114|http://identifiers.org/mesh/C565390|https://omim.org/entry/251000	ordo_disease
MONDO:0009611	biolink:Disease	3-methylglutaconic aciduria type 4	3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III).	MESH:C565393|SCTID:297233004|UMLS:C0574085|GARD:0010342|OMIM:250951|UMLS:C1855126|DOID:0110006|Orphanet:67048	mondo.json	3-Methylglutaconic aciduria, type 4|Mga, type 4|Not otherwise specified 3-MGA-Uria type|3 methylglutaconic aciduria type IV|MGA4|3 alpha methylglutaconic aciduria type IV|3-methylglutaconic aciduria type IV|3-METHYLGLUTACONIC aciduria, type IV|MGCA4|MGA type IV	http://purl.obolibrary.org/obo/MONDO_0009611	https://omim.org/entry/250951|UMLS:C1855126|Orphanet:67048|http://identifiers.org/snomedct/297233004|http://identifiers.org/mesh/C565393|DOID:0110006	ordo_disease|gard_rare
MONDO:0009610	biolink:Disease	3-methylglutaconic aciduria type 1	3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.	SCTID:237951008|DOID:0110002|MESH:C562801|UMLS:C0342727|OMIM:250950|NCIT:C98683|Orphanet:67046|UMLS:C0342728|GARD:0010321	mondo.json	3-METHYLGLUTACONIC aciduria, type I|3-Methylglutaconic aciduria, type 1|3-Mg-Coa-hydratase deficiency|3 methylglutaconyl CoA hydratase deficiency|3-methylglutaconic aciduria caused by mutation in AUH|3-methylglutaconic aciduria caused by mutation in auh|3 alpha methylglutaconic aciduria type I|Mga, type 1|3-MGCA type I (3-MGCA-1)|3-methylglutaconic aciduria type 1|MGA1|MGA type I|AUH 3-methylglutaconic aciduria|3MG-CoA hydratase deficiency|auh 3-methylglutaconic aciduria|3MG CoA hydratase deficiency|3-methylglutaconyl-CoA hydratase deficiency (auh defect)|3-methylglutaconic aciduria type I|3-methylglutaconyl-Coa hydratase deficiency|3 methylglutaconic aciduria type 1|MGCA1|3-methylglutaconyl-CoA hydratase deficiency	http://purl.obolibrary.org/obo/MONDO_0009610	http://identifiers.org/mesh/C562801|https://omim.org/entry/250950|http://identifiers.org/snomedct/237951008|DOID:0110002|Orphanet:67046|UMLS:C0342727|NCIT:C98683	ordo_disease
NCBITaxon:4070	biolink:OrganismalEntity	Solanaceae		GC_ID:1	mondo.json	nightshade family	http://purl.obolibrary.org/obo/NCBITaxon_4070		
UBERON:0006234	biolink:AnatomicalEntity	femur pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006234		
UBERON:0008897	biolink:AnatomicalEntity	fin			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008897		
UBERON:0006233	biolink:AnatomicalEntity	female genital tubercle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006233		
UBERON:0006232	biolink:AnatomicalEntity	facio-acoustic VII-VIII preganglion complex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006232		
UBERON:0006230	biolink:AnatomicalEntity	extrinsic ocular pre-muscle mass			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006230		
UBERON:0006239	biolink:AnatomicalEntity	future central tendon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006239		
UBERON:0006238	biolink:AnatomicalEntity	future brain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006238		
NCBITaxon:436491	biolink:OrganismalEntity	Theropoda		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_436491		
NCBITaxon:436492	biolink:OrganismalEntity	Coelurosauria		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_436492		
GO:0006915	biolink:NamedThing	apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.		mondo.json	apoptosis|type I programmed cell death|signaling (initiator) caspase activity|cell suicide|apoptosis activator activity|apoptotic cell death|caspase-dependent programmed cell death|commitment to apoptosis|induction of apoptosis|apoptosis signaling|apoptotic programmed cell death|cellular suicide|apoptotic program|programmed cell death by apoptosis|induction of apoptosis by p53|activation of apoptosis	http://purl.obolibrary.org/obo/GO_0006915		
UBERON:0008895	biolink:AnatomicalEntity	splanchnocranium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008895		
UBERON:0006235	biolink:AnatomicalEntity	foregut-midgut junction			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006235		
UBERON:0008896	biolink:AnatomicalEntity	post-hyoid pharyngeal arch			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008896		
CL:0008030	biolink:Cell	excitatory neuron			mondo.json		http://purl.obolibrary.org/obo/CL_0008030		
UBERON:8420000	biolink:AnatomicalEntity	hair of scalp			mondo.json		http://purl.obolibrary.org/obo/UBERON_8420000		
CHEBI:65296	biolink:ChemicalSubstance	primary ammonium ion	An ammonium ion derivative resulting from the protonation of the nitrogen atom of a primary amino compound. Major species at pH 7.3.		mondo.json	a primary amine|substituted ammonium	http://purl.obolibrary.org/obo/CHEBI_65296		
UBERON:0008886	biolink:AnatomicalEntity	pulmonary vascular system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008886		
UBERON:0006222	biolink:AnatomicalEntity	future diencephalon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006222		
UBERON:0008887	biolink:AnatomicalEntity	rectal venous plexus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008887		
CL:0008028	biolink:Cell	visual system neuron			mondo.json		http://purl.obolibrary.org/obo/CL_0008028		
CL:0008024	biolink:Cell	pancreatic endocrine cell	An endocrine cell that is part of the pancreas.		mondo.json		http://purl.obolibrary.org/obo/CL_0008024		
HGNC:4679	biolink:NamedThing	GUCA1B			mondo.json		http://identifiers.org/hgnc/4679		
HGNC:4678	biolink:NamedThing	GUCA1A			mondo.json		http://identifiers.org/hgnc/4678		
CHEBI:16277	biolink:ChemicalSubstance	haloacetic acid	A monocarboxylic acid that is acetic acid in which one of the methyl hydrogens has been replaced by a halogen atom.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_16277		
UBERON:0006227	biolink:AnatomicalEntity	ethmoid bone primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006227		
UBERON:0008882	biolink:AnatomicalEntity	spinal cord commissure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008882		
UBERON:0008883	biolink:AnatomicalEntity	osteoid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008883		
UBERON:0006226	biolink:AnatomicalEntity	endolymphatic appendage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006226		
UBERON:0006224	biolink:AnatomicalEntity	elbow joint primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006224		
HGNC:2019	biolink:NamedThing	CLCN1			mondo.json		http://identifiers.org/hgnc/2019		
HGNC:2020	biolink:NamedThing	CLCN2			mondo.json		http://identifiers.org/hgnc/2020		
UBERON:0006211	biolink:AnatomicalEntity	buccopharyngeal membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006211		
UBERON:0008876	biolink:AnatomicalEntity	hypodermis skeletal muscle layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008876		
UBERON:0006210	biolink:AnatomicalEntity	body-wall mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006210		
UBERON:0008878	biolink:AnatomicalEntity	palmar part of manus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008878		
CL:0008035	biolink:Cell	microcirculation associated smooth muscle cell			mondo.json		http://purl.obolibrary.org/obo/CL_0008035		
NCBITaxon:123368	biolink:OrganismalEntity	Acanthomorphata		GC_ID:1	mondo.json	Acanthomorpha	http://purl.obolibrary.org/obo/NCBITaxon_123368		
UBERON:0006219	biolink:AnatomicalEntity	deltoid pre-muscle mass			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006219		
HGNC:2026	biolink:NamedThing	CLCNKA			mondo.json		http://identifiers.org/hgnc/2026		
UBERON:0006218	biolink:AnatomicalEntity	common atrial chamber			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006218		
HGNC:4689	biolink:NamedThing	GUCY2D			mondo.json		http://identifiers.org/hgnc/4689		
UBERON:0008870	biolink:AnatomicalEntity	pulmonary alveolar parenchyma			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008870		
HGNC:2027	biolink:NamedThing	CLCNKB			mondo.json		http://identifiers.org/hgnc/2027		
HGNC:4688	biolink:NamedThing	GUCY2C			mondo.json		http://identifiers.org/hgnc/4688		
UBERON:0006217	biolink:AnatomicalEntity	cloacal membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006217		
NCBITaxon:123365	biolink:OrganismalEntity	Neoteleostei		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_123365		
UBERON:0006215	biolink:AnatomicalEntity	rhombic lip			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006215		
HGNC:2025	biolink:NamedThing	CLCN7			mondo.json		http://identifiers.org/hgnc/2025		
HGNC:2022	biolink:NamedThing	CLCN4			mondo.json		http://identifiers.org/hgnc/2022		
NCBITaxon:123366	biolink:OrganismalEntity	Eurypterygia		GC_ID:1	mondo.json	Eurypterygii	http://purl.obolibrary.org/obo/NCBITaxon_123366		
HGNC:4685	biolink:NamedThing	GUCY1A1			mondo.json		http://identifiers.org/hgnc/4685		
UBERON:0006214	biolink:AnatomicalEntity	carpus pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006214		
CL:0008034	biolink:Cell	mural cell	Mural cells are pericytes and the vascular smooth muscle cells (vSMCs) of the microcirculation.		mondo.json		http://purl.obolibrary.org/obo/CL_0008034		added_for_HCA
NCBITaxon:123367	biolink:OrganismalEntity	Ctenosquamata		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_123367		
OBO:exo#interacts_with_an_exposure_stressor_via	biolink:NamedThing	interacts_with_an_exposure stressor_via			mondo.json		http://purl.obolibrary.org/obo/exo#interacts_with_an_exposure_stressor_via		
UBERON:0008874	biolink:AnatomicalEntity	pulmonary acinus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008874		
UBERON:0006213	biolink:AnatomicalEntity	carpus cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006213		
HGNC:2023	biolink:NamedThing	CLCN5			mondo.json		http://identifiers.org/hgnc/2023		
ENVO:01001008	biolink:NamedThing	meteor	A meteor is any matter- or energy-based entity which is located in the atmosphere of an astronomical body.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001008		
GO:0031987	biolink:NamedThing	locomotion involved in locomotory behavior	Self-propelled movement of a cell or organism from one location to another in a behavioral context; the aspect of locomotory behavior having to do with movement.		mondo.json	locomotion during locomotory behaviour	http://purl.obolibrary.org/obo/GO_0031987		
GO:0090283	biolink:NamedThing	obsolete regulation of protein glycosylation in Golgi	OBSOLETE. Any process that modulates the rate, frequency, or extent of the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus.		mondo.json	regulation of protein amino acid glycosylation in Golgi	http://purl.obolibrary.org/obo/GO_0090283		
GO:0004363	biolink:NamedThing	glutathione synthase activity	Catalysis of the reaction: L-gamma-glutamyl-L-cysteine + ATP + glycine = ADP + glutathione + 2 H(+) + phosphate.		mondo.json	glutathione synthetase activity|GSH synthetase activity|gamma-L-glutamyl-L-cysteine:glycine ligase (ADP-forming)	http://purl.obolibrary.org/obo/GO_0004363		
NCIT:C16956	biolink:NamedThing	Pathologic Process			mondo.json		http://purl.obolibrary.org/obo/NCIT_C16956		
ENVO:01001000	biolink:NamedThing	environmental system determined by an organism	An environmental system which is determined by a living organism.		mondo.json	host-associated environment	http://purl.obolibrary.org/obo/ENVO_01001000		
GO:0031982	biolink:NamedThing	vesicle	Any small, fluid-filled, spherical organelle enclosed by membrane.		mondo.json	membrane-bounded vesicle|membrane-enclosed vesicle	http://purl.obolibrary.org/obo/GO_0031982		
GO:0090284	biolink:NamedThing	obsolete positive regulation of protein glycosylation in Golgi	OBSOLETE. Any process that increases the rate, frequency, or extent of the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus.		mondo.json	positive regulation of protein amino acid glycosylation in Golgi	http://purl.obolibrary.org/obo/GO_0090284		
ENVO:01001002	biolink:NamedThing	animal-associated environment	An environmental system determined by an animal.		mondo.json	animal environment|Metazoan-associated environment	http://purl.obolibrary.org/obo/ENVO_01001002		
GO:0031981	biolink:NamedThing	nuclear lumen	The volume enclosed by the nuclear inner membrane.		mondo.json		http://purl.obolibrary.org/obo/GO_0031981		
ENVO:01001001	biolink:NamedThing	plant-associated environment	An environmental system determined by a green plant.		mondo.json	Viridiplantae-associated environment|plant environment	http://purl.obolibrary.org/obo/ENVO_01001001		
GO:0090285	biolink:NamedThing	obsolete negative regulation of protein glycosylation in Golgi	OBSOLETE. Any process that decreases the rate, frequency, or extent of the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus.		mondo.json	negative regulation of protein amino acid glycosylation in Golgi	http://purl.obolibrary.org/obo/GO_0090285		
HGNC:23399	biolink:NamedThing	FREM1			mondo.json		http://identifiers.org/hgnc/23399		
GO:0031975	biolink:NamedThing	envelope	A multilayered structure surrounding all or part of a cell; encompasses one or more lipid bilayers, and may include a cell wall layer; also includes the space between layers.		mondo.json		http://purl.obolibrary.org/obo/GO_0031975		
GO:0031974	biolink:NamedThing	membrane-enclosed lumen	The enclosed volume within a sealed membrane or between two sealed membranes. Encompasses the volume enclosed by the membranes of a particular organelle, e.g. endoplasmic reticulum lumen, or the space between the two lipid bilayers of a double membrane surrounding an organelle, e.g. nuclear envelope lumen.		mondo.json		http://purl.obolibrary.org/obo/GO_0031974		
HP:0025408	biolink:PhenotypicFeature	Abnormal spleen morphology	Any anomaly of the structure of the spleen.		mondo.json	Splenic lesion	http://purl.obolibrary.org/obo/HP_0025408		
GO:0004370	biolink:NamedThing	glycerol kinase activity	Catalysis of the reaction: ATP + glycerol = sn-glycerol 3-phosphate + ADP + 2 H(+).		mondo.json	GK|glyceric kinase activity|ATP:glycerol-3-phosphotransferase activity|ATP:glycerol 3-phosphotransferase activity|glycerokinase activity|glycerol kinase (phosphorylating)	http://purl.obolibrary.org/obo/GO_0004370		
HP:0001450	biolink:PhenotypicFeature	Y-linked inheritance	A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome.	UMLS:C0814045|MSH:D050173	mondo.json	Y-linked	http://purl.obolibrary.org/obo/HP_0001450		
GO:0004348	biolink:NamedThing	glucosylceramidase activity	Catalysis of the reaction: D-glucosyl-N-acylsphingosine + H2O = D-glucose + N-acylsphingosine.		mondo.json	beta-glucosylceramidase activity|glucocerebrosidase activity|D-glucosyl-N-acylsphingosine glucohydrolase activity|glucosylcerebrosidase activity|glucosphingosine glucosylhydrolase activity|acid beta-glucosidase activity|psychosine hydrolase activity|beta-D-glucocerebrosidase activity|glucosylsphingosine beta-glucosidase activity|GlcCer-beta-glucosidase activity|ceramide glucosidase activity|beta-glucocerebrosidase activity|glucosylsphingosine beta-D-glucosidase activity	http://purl.obolibrary.org/obo/GO_0004348		
GO:0031966	biolink:NamedThing	mitochondrial membrane	Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope.		mondo.json		http://purl.obolibrary.org/obo/GO_0031966		
GO:0031967	biolink:NamedThing	organelle envelope	A double membrane structure enclosing an organelle, including two lipid bilayers and the region between them. In some cases, an organelle envelope may have more than two membranes.		mondo.json		http://purl.obolibrary.org/obo/GO_0031967		
GO:0004345	biolink:NamedThing	glucose-6-phosphate dehydrogenase activity	Catalysis of the reaction: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH + H+.		mondo.json	NADP-dependent glucose 6-phosphate dehydrogenase activity|G6PD activity|Zwischenferment|Entner-doudoroff enzyme|GDH|G6PDH|glucose 6-phosphate dehydrogenase (NADP) activity|6-phosphoglucose dehydrogenas|NADP-glucose-6-phosphate dehydrogenase activity|6-phosphoglucose dehydrogenase activity|glucose-6-phosphate 1-dehydrogenase activity|D-glucose 6-phosphate dehydrogenase activity|D-glucose-6-phosphate:NADP+ 1-oxidoreductase activity	http://purl.obolibrary.org/obo/GO_0004345		
ENVO:01001026	biolink:NamedThing	electromagnetic radiation	A radiation process during which waves (or their quanta, photons) of the electromagnetic field propagate (radiate) through space carrying electromagnetic energy.		mondo.json	EM radiation	http://purl.obolibrary.org/obo/ENVO_01001026		
GO:0031965	biolink:NamedThing	nuclear membrane	Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space.		mondo.json		http://purl.obolibrary.org/obo/GO_0031965		
GO:0004347	biolink:NamedThing	glucose-6-phosphate isomerase activity	Catalysis of the reaction: D-glucose 6-phosphate = D-fructose 6-phosphate.		mondo.json	phosphoglucose isomerase activity|hexose phosphate isomerase activity|hexose monophosphate isomerase activity|phosphohexose isomerase activity|phosphohexoisomerase activity|D-glucose-6-phosphate ketol-isomerase activity|oxoisomerase activity|glucose phosphate isomerase activity|D-glucose-6-phosphate aldose-ketose-isomerase activity|hexosephosphate isomerase activity|phosphosaccharomutase activity|phosphohexomutase activity|phosphoglucoisomerase activity	http://purl.obolibrary.org/obo/GO_0004347		
GO:0004346	biolink:NamedThing	glucose-6-phosphatase activity	Catalysis of the reaction: D-glucopyranose 6-phosphate + H2O = D-glucose + phosphate. D-glucopyranose is also known as D-glucose 6-phosphate.		mondo.json	D-glucose-6-phosphate phosphohydrolase activity|glucose 6-phosphate phosphatase activity	http://purl.obolibrary.org/obo/GO_0004346		
NCBITaxon:4081	biolink:OrganismalEntity	Solanum lycopersicum		GC_ID:1	mondo.json	Lycopersicon esculentum var. esculentum|Lycopersicon esculentum|Solanum lycopersicum var. humboldtii|tomato|Solanum esculentum	http://purl.obolibrary.org/obo/NCBITaxon_4081		
HGNC:11389	biolink:NamedThing	STK11			mondo.json		http://identifiers.org/hgnc/11389		
HP:0001423	biolink:PhenotypicFeature	X-linked dominant inheritance	A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.	UMLS:C1847879	mondo.json	X-linked dominant	http://purl.obolibrary.org/obo/HP_0001423		
ENVO:01001022	biolink:NamedThing	natural lake	A lake which has formed as the result of processes that are not or are only minimally driven by human activity.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001022		
GO:0016321	biolink:NamedThing	female meiosis chromosome segregation	The cell cycle process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets during the meiotic cell cycle in a female.		mondo.json		http://purl.obolibrary.org/obo/GO_0016321		
ENVO:01001023	biolink:NamedThing	radiation	A process during which energy is emitted or transmitted in the form of waves or particles through space or a material medium.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001023		
HGNC:11386	biolink:NamedThing	STIM1			mondo.json		http://identifiers.org/hgnc/11386		
GO:0004357	biolink:NamedThing	glutamate-cysteine ligase activity	Catalysis of the reaction: L-cysteine + L-glutamate + ATP = L-gamma-glutamyl-L-cysteine + ADP + 2 H(+) + phosphate.		mondo.json	L-glutamate:L-cysteine gamma-ligase (ADP-forming) activity|gamma-glutamylcysteinyl synthetase activity|gamma-glutamylcysteine synthetase activity|gamma-glutamyl-L-cysteine synthetase activity	http://purl.obolibrary.org/obo/GO_0004357		
GO:0004351	biolink:NamedThing	glutamate decarboxylase activity	Catalysis of the reaction: L-glutamate = 4-aminobutanoate + CO2.		mondo.json	L-aspartate-alpha-decarboxylase activity|L-glutamic acid decarboxylase activity|L-glutamate alpha-decarboxylase activity|L-glutamate 1-carboxy-lyase (4-aminobutanoate-forming)|aspartic alpha-decarboxylase|cysteic acid decarboxylase activity|L-glutamate 1-carboxy-lyase activity|L-glutamic decarboxylase activity|gamma-glutamate decarboxylase activity	http://purl.obolibrary.org/obo/GO_0004351		
HP:0001438	biolink:PhenotypicFeature	Abnormal abdomen morphology	A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.	UMLS:C4020869	mondo.json	Abdomen abnormality|Abnormality of abdomen morphology|Abnormality of the abdomen|Abnormality of abdomen structure	http://purl.obolibrary.org/obo/HP_0001438		
HP:0001433	biolink:PhenotypicFeature	Hepatosplenomegaly	Simultaneous enlargement of the liver and spleen.	SNOMEDCT_US:36760000|UMLS:C0019214	mondo.json	Enlarged liver and spleen	http://purl.obolibrary.org/obo/HP_0001433		
GO:0090275	biolink:NamedThing	negative regulation of somatostatin secretion	Any process that decreases the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas.		mondo.json		http://purl.obolibrary.org/obo/GO_0090275		
GO:0016331	biolink:NamedThing	morphogenesis of embryonic epithelium	The process in which the anatomical structures of embryonic epithelia are generated and organized.		mondo.json		http://purl.obolibrary.org/obo/GO_0016331		
ENVO:01001010	biolink:NamedThing	hydrometeor	A meteor which is primarily composed of water.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001010		
GO:0090276	biolink:NamedThing	regulation of peptide hormone secretion	Any process that modulates the rate, frequency, or extent of the regulated release of a peptide hormone from secretory granules.		mondo.json		http://purl.obolibrary.org/obo/GO_0090276		
GO:0090273	biolink:NamedThing	regulation of somatostatin secretion	Any process that modulates the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas.		mondo.json		http://purl.obolibrary.org/obo/GO_0090273		
HGNC:11391	biolink:NamedThing	AURKC			mondo.json		http://identifiers.org/hgnc/11391		
ENVO:01001012	biolink:NamedThing	lithometeor	A meteor which is primarily composed of rock.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001012		
GO:0090274	biolink:NamedThing	positive regulation of somatostatin secretion	Any process that increases the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas.		mondo.json		http://purl.obolibrary.org/obo/GO_0090274		
HGNC:11397	biolink:NamedThing	PLK4			mondo.json		http://identifiers.org/hgnc/11397		
GO:0090277	biolink:NamedThing	positive regulation of peptide hormone secretion	Any process that increases the rate, frequency, or extent of the regulated release of a peptide hormone from secretory granules.		mondo.json		http://purl.obolibrary.org/obo/GO_0090277		
GO:0090278	biolink:NamedThing	negative regulation of peptide hormone secretion	Any process that decreases the rate, frequency, or extent of the regulated release of a peptide hormone from secretory granules.		mondo.json		http://purl.obolibrary.org/obo/GO_0090278		
PO:0025222	biolink:NamedThing	reproductive shoot apex	A shoot apex that has as part a reproductive shoot apical meristem.		mondo.json	&#225pice reproductivo del epiblasto (epiblastema) (Spanish, exact)|生殖シュート頂、茎頂 (Japanese, exact)	http://purl.obolibrary.org/obo/PO_0025222		
GO:0031946	biolink:NamedThing	regulation of glucocorticoid biosynthetic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids.		mondo.json		http://purl.obolibrary.org/obo/GO_0031946		
GO:0031947	biolink:NamedThing	negative regulation of glucocorticoid biosynthetic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids.		mondo.json	down regulation of glucocorticoid biosynthetic process|inhibition of glucocorticoid biosynthetic process|downregulation of glucocorticoid biosynthetic process|down-regulation of glucocorticoid biosynthetic process	http://purl.obolibrary.org/obo/GO_0031947		
GO:0031944	biolink:NamedThing	negative regulation of glucocorticoid metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving glucocorticoids.		mondo.json	negative regulation of glucocorticoid metabolism|downregulation of glucocorticoid metabolic process|down regulation of glucocorticoid metabolic process|inhibition of glucocorticoid metabolic process|down-regulation of glucocorticoid metabolic process	http://purl.obolibrary.org/obo/GO_0031944		
GO:0031945	biolink:NamedThing	positive regulation of glucocorticoid metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving glucocorticoids.		mondo.json	stimulation of glucocorticoid metabolic process|up regulation of glucocorticoid metabolic process|up-regulation of glucocorticoid metabolic process|activation of glucocorticoid metabolic process|positive regulation of glucocorticoid metabolism|upregulation of glucocorticoid metabolic process	http://purl.obolibrary.org/obo/GO_0031945		
GO:0031943	biolink:NamedThing	regulation of glucocorticoid metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving glucocorticoids.		mondo.json	regulation of glucocorticoid metabolism	http://purl.obolibrary.org/obo/GO_0031943		
UBERON:0008817	biolink:AnatomicalEntity	thymus primordium endoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008817		
UBERON:0008819	biolink:AnatomicalEntity	inferior mediastinum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008819		
GO:0031948	biolink:NamedThing	positive regulation of glucocorticoid biosynthetic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids.		mondo.json	up-regulation of glucocorticoid biosynthetic process|up regulation of glucocorticoid biosynthetic process|activation of glucocorticoid biosynthetic process|stimulation of glucocorticoid biosynthetic process|upregulation of glucocorticoid biosynthetic process	http://purl.obolibrary.org/obo/GO_0031948		
HGNC:11367	biolink:NamedThing	STAT5B			mondo.json		http://identifiers.org/hgnc/11367		
UBERON:0008822	biolink:AnatomicalEntity	posterior mediastinum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008822		
HGNC:11365	biolink:NamedThing	STAT4			mondo.json		http://identifiers.org/hgnc/11365		
UBERON:0008823	biolink:AnatomicalEntity	neural tube derived brain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008823		
GO:0016301	biolink:NamedThing	kinase activity	Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.		mondo.json	phosphokinase activity	http://purl.obolibrary.org/obo/GO_0016301		
UBERON:0008824	biolink:AnatomicalEntity	duct of epididymis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008824		
UBERON:0008826	biolink:AnatomicalEntity	pulmonary surfactant			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008826		
HP:0001482	biolink:PhenotypicFeature	Subcutaneous nodule	Slightly elevated lesions on or in the skin with a diameter of over 5 mm.	UMLS:C0151811|UMLS:C0746926|SNOMEDCT_US:95325000	mondo.json	Growth of abnormal tissue under the skin|Firm lump under the skin|Nodule below the skin|Subcutaneous nodules|Multiple, subcutaneous nodules	http://purl.obolibrary.org/obo/HP_0001482		hposlim_core
HGNC:11364	biolink:NamedThing	STAT3			mondo.json		http://identifiers.org/hgnc/11364		
HGNC:11363	biolink:NamedThing	STAT2			mondo.json		http://identifiers.org/hgnc/11363		
HP:0001480	biolink:PhenotypicFeature	Freckling	The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.	SNOMEDCT_US:403536009|SNOMEDCT_US:699225003|MSH:D008548|UMLS:C0016689	mondo.json	Freckling	http://purl.obolibrary.org/obo/HP_0001480		
HGNC:11362	biolink:NamedThing	STAT1			mondo.json		http://identifiers.org/hgnc/11362		
CHR:9606-chr2q32-q33	biolink:NamedThing	2q32-q33 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr2q32-q33		
GO:0031933	biolink:NamedThing	obsolete telomeric heterochromatin	OBSOLETE. Heterochromatic regions of the chromosome found at the telomeres.		mondo.json	telomeric chromatin	http://purl.obolibrary.org/obo/GO_0031933		
GO:0004339	biolink:NamedThing	glucan 1,4-alpha-glucosidase activity	Catalysis of the hydrolysis of terminal (1->4)-linked alpha-D-glucose residues successively from non-reducing ends of the chains with release of beta-D-glucose.		mondo.json	1,4-alpha-D-glucan glucohydrolase activity|amyloglucosidase activity|gamma-1,4-glucan glucohydrolase activity|glucose amylase activity|glucoamylase activity|lysosomal alpha-glucosidase activity|exo-1,4-alpha-glucosidase activity|gamma-amylase activity	http://purl.obolibrary.org/obo/GO_0004339		
GO:0006997	biolink:NamedThing	nucleus organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nucleus.		mondo.json	nuclear organization and biogenesis|nucleus organization and biogenesis|nuclear organisation|nuclear morphology|nuclear organization	http://purl.obolibrary.org/obo/GO_0006997		
GO:0004336	biolink:NamedThing	galactosylceramidase activity	Catalysis of the reaction: D-galactosyl-N-acylsphingosine + H2O = D-galactose + N-acylsphingosine.		mondo.json	beta-galactosylceramidase activity|galactocerebrosidase activity|ceramide galactosidase activity|galactosylceramide beta-galactosidase activity|galactosylceramidase I|D-galactosyl-N-acylsphingosine galactohydrolase activity|cerebroside galactosidase activity|galcerase activity|galactocerebroside beta-galactosidase activity|galactocerebroside galactosidase activity|cerebroside beta-galactosidase activity|galactosylcerebrosidase activity|lactosylceramidase activity|galactocerebroside-beta-D-galactosidase activity|lactosylceramidase I|beta-galactocerebrosidase activity	http://purl.obolibrary.org/obo/GO_0004336		
GO:0006996	biolink:NamedThing	organelle organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane.		mondo.json	single organism organelle organization|single-organism organelle organization|organelle organization and biogenesis|organelle organisation	http://purl.obolibrary.org/obo/GO_0006996		
GO:0004332	biolink:NamedThing	fructose-bisphosphate aldolase activity	Catalysis of the reaction: D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde-3-phosphate.		mondo.json	D-fructose-1,6-bisphosphate D-glyceraldehyde-3-phosphate-lyase activity|1,6-diphosphofructose aldolase activity|fructoaldolase activity|aldolase activity|fructose 1-phosphate aldolase activity|ketose 1-phosphate aldolase activity|fructose 1-monophosphate aldolase activity|D-fructose-1,6-bisphosphate D-glyceraldehyde-3-phosphate-lyase (glycerone-phosphate-forming)|zymohexase activity|fructose-1,6-bisphosphate triosephosphate-lyase activity|fructose diphosphate aldolase activity|phosphofructoaldolase activity|SMALDO|fructose 1,6-diphosphate aldolase activity|diphosphofructose aldolase activity	http://purl.obolibrary.org/obo/GO_0004332		
UBERON:0008810	biolink:AnatomicalEntity	nasopalatine nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008810		
UBERON:0008811	biolink:AnatomicalEntity	intromittent organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008811		
UBERON:0008814	biolink:AnatomicalEntity	pharyngeal arch system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008814		
UBERON:0008816	biolink:AnatomicalEntity	embryonic head			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008816		
GO:0016310	biolink:NamedThing	phosphorylation	The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.		mondo.json		http://purl.obolibrary.org/obo/GO_0016310		
GO:0016311	biolink:NamedThing	dephosphorylation	The process of removing one or more phosphoric (ester or anhydride) residues from a molecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0016311		
GO:0006968	biolink:NamedThing	cellular defense response	A defense response that is mediated by cells.		mondo.json	intracellular defense response|intracellular defence response|cellular defence response	http://purl.obolibrary.org/obo/GO_0006968		
HGNC:25985	biolink:NamedThing	PIGG			mondo.json		http://identifiers.org/hgnc/25985		
NCIT:C38328	biolink:NamedThing	Unfavorable Clinical Outcome			mondo.json		http://purl.obolibrary.org/obo/NCIT_C38328		
CHEBI:65212	biolink:ChemicalSubstance	polysaccharide derivative	A carbohydrate derivative that is any derivative of a polysaccharide.		mondo.json	polysaccharide derivatives	http://purl.obolibrary.org/obo/CHEBI_65212		
UBERON:0008801	biolink:AnatomicalEntity	parotid gland primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008801		
UBERON:0008803	biolink:AnatomicalEntity	skin of cheek			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008803		
UBERON:0008805	biolink:AnatomicalEntity	gingival groove			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008805		
GO:0006974	biolink:NamedThing	cellular response to DNA damage stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism.		mondo.json	DNA damage response|cellular DNA damage response|response to genotoxic stress|response to DNA damage stimulus	http://purl.obolibrary.org/obo/GO_0006974		
HGNC:23338	biolink:NamedThing	ACBD5			mondo.json		http://identifiers.org/hgnc/23338		
HGNC:25994	biolink:NamedThing	NSUN2			mondo.json		http://identifiers.org/hgnc/25994		
HGNC:11356	biolink:NamedThing	STAG3			mondo.json		http://identifiers.org/hgnc/11356		
GO:0018958	biolink:NamedThing	phenol-containing compound metabolic process	The chemical reactions and pathways involving a phenol, any compound containing one or more hydroxyl groups directly attached to an aromatic carbon ring.		mondo.json	hydroxybenzene metabolism|carbolic acid metabolic process|phenol-containing compound metabolism|carbolic acid metabolism|hydroxybenzene metabolic process	http://purl.obolibrary.org/obo/GO_0018958		
HP:0025423	biolink:PhenotypicFeature	Abnormal larynx morphology	Any anomaly of the structure of the larynx.		mondo.json		http://purl.obolibrary.org/obo/HP_0025423		
HGNC:11354	biolink:NamedThing	STAG1			mondo.json		http://identifiers.org/hgnc/11354		
HP:0025426	biolink:PhenotypicFeature	Abnormal bronchus morphology	Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs.		mondo.json	Abnormality of the bronchi	http://purl.obolibrary.org/obo/HP_0025426		
HGNC:11359	biolink:NamedThing	STAR			mondo.json		http://identifiers.org/hgnc/11359		
HGNC:4601	biolink:NamedThing	GRN			mondo.json		http://identifiers.org/hgnc/4601		
MONDO:0022462	biolink:Disease	anophthalmia esophageal atresia cryptorchidism	A syndrome characterized by bilateral anophthalmia, esophageal atresia, and cryptorchidism. This is an n-of-1 use case where only one patient or family has been described with this disorder.	GARD:0000716	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022462		n_of_one|gard_rare
MONDO:0022463	biolink:Disease	obsolete anophthalmia megalocornea cardiopathy skeletal anomalies			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022463		
MONDO:0022464	biolink:Disease	obsolete anophthalmia microcephaly hypogonadism		GARD:0000718	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022464		
MONDO:0022465	biolink:Disease	anotia facial palsy cardiac defect	A syndrome characterized by anotia (congenital absence of the pinna) with a normal cochlea and vestibular apparatus, with facial paralysis caused by congenital absence of the entire right facial nerve, and congenital heart disease, which may present as atrioventricular septal defects or variations of tetralogy of Fallot.	GARD:0000725	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022465		gard_rare
MONDO:0022468	biolink:Disease	antigen-peptide-transporter 2 deficiency	An inborn errors of metabolism disorder caused by homozygosity for mutations in the TAP2 gene. It is characterizeed by nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections.	GARD:0000732	mondo.json	TAP 2 deficiency|antigen processing (TAP) deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0022468		gard_rare
MONDO:0022469	biolink:Disease	obsolete aortic arches defect			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022469		
MONDO:0009489	biolink:Disease	hereditary palmoplantar keratoderma, Gamborg-Nielsen type	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive.	OMIM:244850|MESH:C565454|Orphanet:86923|SCTID:717228004	mondo.json	PPK, Gamborg-Nielsen type|hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type|PPKNR|palmoplantar keratoderma, Norrbotten recessive type	http://purl.obolibrary.org/obo/MONDO_0009489	https://omim.org/entry/244850|http://identifiers.org/snomedct/717228004|Orphanet:86923|http://identifiers.org/mesh/C565454	ordo_disease
MONDO:0009488	biolink:Disease	keratoconus posticus circumscriptus		OMIM:244600|MESH:C536151|UMLS:C1855645|GARD:0003091	mondo.json	keratoconus posticus CIRCUMSCRIPTUS|keratoconus posticus circumscriptus|KPC|Kpc with associated malformations	http://purl.obolibrary.org/obo/MONDO_0009488	https://omim.org/entry/244600|http://identifiers.org/mesh/C536151|UMLS:C1855645	gard_rare
HP:0001608	biolink:PhenotypicFeature	Abnormality of the voice		UMLS:C4021776	mondo.json	Voice abnormality|Abnormality of the voice	http://purl.obolibrary.org/obo/HP_0001608		
MONDO:0009487	biolink:Disease	keratoconus and congenital hip dysplasia		OMIM:244510|MESH:C565456|UMLS:C1855647	mondo.json	keratoconus and congenital hip dysplasia	http://purl.obolibrary.org/obo/MONDO_0009487	https://omim.org/entry/244510|http://identifiers.org/mesh/C565456|UMLS:C1855647	
HP:0001609	biolink:PhenotypicFeature	Hoarse voice	Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.	SNOMEDCT_US:50219008|UMLS:C0019825|MSH:D006685|UMLS:C1854348	mondo.json	Husky voice|Hoarseness|Hoarse voice	http://purl.obolibrary.org/obo/HP_0001609		
MONDO:0009486	biolink:Disease	autosomal recessive Kenny-Caffey syndrome	An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.	OMIM:244460|GARD:0008367|NCIT:C130992|Orphanet:93324|MESH:C537021|UMLS:C1855648	mondo.json	Kenny-Caffey syndrome, type 1|Kcs|KCS1|Kenny-Caffey syndrome type 1|Kenny-Caffey syndrome, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009486	https://omim.org/entry/244460|http://identifiers.org/mesh/C537021|UMLS:C1855648|NCIT:C130992|Orphanet:93324	gard_rare|ordo_etiological_subtype
MONDO:0022460	biolink:Disease	obsolete anophthalmia cleft lip palate hypothalamic disorder			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022460		
MONDO:0009485	biolink:Disease	oculocerebrofacial syndrome, Kaufman type		Orphanet:2707|UMLS:C1855663|OMIM:244450|SCTID:722056009|DOID:0111456|MESH:C537013|GARD:0003084	mondo.json	Kaufman oculocerebrofacial syndrome|severe intellectual disability, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet|oculocerebrofacial syndrome, Kaufman type|BPIDS|kos|blepharophimosis-ptosis-intellectual disability syndrome|KOS|severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet	http://purl.obolibrary.org/obo/MONDO_0009485	http://identifiers.org/mesh/C537013|Orphanet:2707|DOID:0111456|UMLS:C1855663|http://identifiers.org/snomedct/722056009|https://omim.org/entry/244450	ordo_malformation_syndrome
MONDO:0022461	biolink:Disease	anophthalmia cleft palate micrognathia	A syndrome characterized by bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes.	GARD:0000715	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022461		gard_rare
HP:0001607	biolink:PhenotypicFeature	Subglottic stenosis		SNOMEDCT_US:22668006|UMLS:C0238441	mondo.json		http://purl.obolibrary.org/obo/HP_0001607		
HGNC:11445	biolink:NamedThing	STXBP2			mondo.json		http://identifiers.org/hgnc/11445		
MONDO:0010484	biolink:Disease	hearing loss, X-linked 6	Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene.	OMIM:300914|DOID:0111740|UMLS:C3806737	mondo.json	X-linked nonsyndromic deafness caused by mutation in COL4A6|deafness, X-linked type 6|deafness, X-linked 6, X-linked recessive|DFNX6|deafness, X-linked 6|COL4A6 X-linked nonsyndromic deafness	http://purl.obolibrary.org/obo/MONDO_0010484	https://omim.org/entry/300914|UMLS:C3806737|DOID:0111740	clingen
MONDO:0009484	biolink:Disease	primary ciliary dyskinesia 1	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene.	Orphanet:98861|OMIM:244400|DOID:0110594	mondo.json	immotile cilia syndrome|primary ciliary dyskinesia 1|ciliary dyskinesia, primary, 1|Kartagener syndrome|PCD|DNAI1 primary ciliary dyskinesia|dextrocardia, bronchiectasis, and sinusitis|ciliary dyskinesia, primary, 1, with or without situs inversus|Polynesian bronchiectasis|primary ciliary dyskinesia caused by mutation in DNAI1|primary ciliary dyskinesia type 1|CILD1|primary ciliary dyskinesia 1 with or without situs inversus|Siewert syndrome|ciliary dyskinesia, primary, type 1	http://purl.obolibrary.org/obo/MONDO_0009484	Orphanet:98861|DOID:0110594|https://omim.org/entry/244400	
MONDO:0010483	biolink:Disease	X-linked intellectual disability, Cantagrel type	X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.	Orphanet:85277|OMIM:300912|UMLS:C3806730|SCTID:719016007	mondo.json	intellectual disability, X-linked type 98|intellectual disability, X-linked 98|MRX98|mental retardation, X-linked 98|mental retardation, X-linked type 98|intellectual developmental disorder, X-linked 98, X-linked dominant	http://purl.obolibrary.org/obo/MONDO_0010483	https://omim.org/entry/300912|UMLS:C3806730|Orphanet:85277|http://identifiers.org/snomedct/719016007	ordo_malformation_syndrome
MONDO:0009483	biolink:Disease	kapur-Toriello syndrome	Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.	OMIM:244300|UMLS:C0796005|MESH:C537008|SCTID:722031003|Orphanet:2328|GARD:0003078	mondo.json	long columella with cleft Lip/palate and eye, heart, and intestinal anomalies|cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome|kapur Toriello syndrome|kapur-Toriello syndrome|long columella with cleft lip/palate and eye, heart and intestinal anomalies	http://purl.obolibrary.org/obo/MONDO_0009483	Orphanet:2328|http://identifiers.org/mesh/C537008|http://identifiers.org/snomedct/722031003|UMLS:C0796005|https://omim.org/entry/244300	gard_rare|ordo_malformation_syndrome
HGNC:11444	biolink:NamedThing	STXBP1			mondo.json		http://identifiers.org/hgnc/11444		
MONDO:0010486	biolink:Disease	Olmsted syndrome, X-linked		UMLS:C3806745|OMIM:300918	mondo.json	palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked|Olmsted syndrome, X-linked, X-linked recessive|Olmsted syndrome, X-linked	http://purl.obolibrary.org/obo/MONDO_0010486	https://omim.org/entry/300918|UMLS:C3806745	
MONDO:0009482	biolink:Disease	hypogonadotropic hypogonadism 3 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene.	UMLS:C3550478|OMIM:244200|ICD10CM:E23.0|DOID:0090092|GARD:0003073	mondo.json	KAL3|HH3|Kallmann syndrome 3|hypogonadotropic hypogonadism 3 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in PROKR2|PROKR2 hypogonadotropic hypogonadism	http://purl.obolibrary.org/obo/MONDO_0009482	DOID:0090092|UMLS:C3550478|https://omim.org/entry/244200	
MONDO:0010485	biolink:Disease	X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome	X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.	OMIM:300915|UMLS:C3806742|Orphanet:431140	mondo.json	X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome|microphthalmia, syndromic type 13|microphthalmia, syndromic 13|Maine microphthalmos|colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation|MCOPS13	http://purl.obolibrary.org/obo/MONDO_0010485	Orphanet:431140|https://omim.org/entry/300915|UMLS:C3806742	ordo_malformation_syndrome
MONDO:0009481	biolink:Disease	Jumping Frenchmen of Maine		GARD:0006803|OMIM:244100	mondo.json	Jumping Frenchmen of Maine|exaggerated startle reflex|'jumpers' of Maine	http://purl.obolibrary.org/obo/MONDO_0009481	https://omim.org/entry/244100	
MONDO:0009480	biolink:Disease	Joubert syndrome with oculorenal defect	Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.	SCTID:721862000|Orphanet:2318|OMIM:614844|MESH:C537430|GARD:0009455|UMLS:C1855675|OMIM:243910	mondo.json	CORS|Dekaban-Arima syndrome|Joubert syndrome 5|JS type B|Cerebellooculorenal syndrome|Joubert syndrome with oculorenal defect|Joubert syndrome with Senior-Loken syndrome|Dekaban Arima syndrome|cerebrooculohepatorenal syndrome|Arima syndrome|chorioretinal coloboma with cerebellar vermis aplasia|cerebello-oculo-renal syndrome|coloboma, chorioretinal, with cerebellar vermis aplasia|Joubert syndrome with oculorenal anomalies|Joubert syndrome with bilateral chorioretinal coloboma|JS-OR|cerebro-oculo-hepato-renal syndrome	http://purl.obolibrary.org/obo/MONDO_0009480	https://omim.org/entry/243910|http://identifiers.org/mesh/C537430|http://identifiers.org/snomedct/721862000|UMLS:C1855675|Orphanet:2318	ordo_disease|gard_rare
MONDO:0010488	biolink:Disease	intellectual disability, X-linked 100	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KIF4A gene.	OMIM:300923|UMLS:C3890167	mondo.json	intellectual disability, X-linked 100|mental retardation, X-linked type 100|intellectual developmental disorder, X-linked 100, X-linked recessive|non-syndromic X-linked intellectual disability caused by mutation in KIF4A|intellectual disability, X-linked type 100|KIF4A non-syndromic X-linked intellectual disability|mental retardation, X-linked 100|MRX100	http://purl.obolibrary.org/obo/MONDO_0010488	https://omim.org/entry/300923|UMLS:C3890167	
HP:0001600	biolink:PhenotypicFeature	Abnormality of the larynx	An abnormality of the larynx.	UMLS:C4021777	mondo.json	Laryngeal anomalies|Laryngeal abnormalities	http://purl.obolibrary.org/obo/HP_0001600		
HGNC:11449	biolink:NamedThing	SUCLG1			mondo.json		http://identifiers.org/hgnc/11449		
MONDO:0010487	biolink:Disease	intellectual disability, X-linked 99	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP9X gene.	UMLS:C3806746|OMIM:300919	mondo.json	MRX99|mental retardation, X-linked 99|mental retardation, X-linked type 99|intellectual disability, X-linked 99|intellectual developmental disorder, X-linked 99, X-linked recessive|USP9X non-syndromic X-linked intellectual disability|non-syndromic X-linked intellectual disability caused by mutation in USP9X|intellectual disability, X-linked type 99	http://purl.obolibrary.org/obo/MONDO_0010487	https://omim.org/entry/300919|UMLS:C3806746	
HGNC:11448	biolink:NamedThing	SUCLA2			mondo.json		http://identifiers.org/hgnc/11448		
MONDO:0010489	biolink:Disease	intellectual disability, X-linked 101	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene.	OMIM:300928|UMLS:C3890168	mondo.json	intellectual developmental disorder, X-linked 101, X-linked recessive|MID2 non-syndromic X-linked intellectual disability|mental retardation, X-linked 101|MRX101|intellectual disability, X-linked 101|non-syndromic X-linked intellectual disability caused by mutation in MID2|mental retardation, X-linked type 101|intellectual disability, X-linked type 101	http://purl.obolibrary.org/obo/MONDO_0010489	https://omim.org/entry/300928|UMLS:C3890168	
HGNC:23419	biolink:NamedThing	KIFBP			mondo.json		http://identifiers.org/hgnc/23419		
MONDO:0010480	biolink:Disease	anemia, nonspherocytic hemolytic, due to G6PD deficiency		UMLS:C2720289|OMIM:300908|MESH:C567533|Orphanet:466026	mondo.json	class I glucose-6-phosphate dehydrogenase deficiency|Class I G6PD deficiency|hemolytic anemia, G6PD deficient (favism), X-linked dominant|severe hemolytic anemia due to G6PD deficiency|anemia, nonspherocytic hemolytic, due to G6PD deficiency|hemolytic anemia due to G6PD deficiency	http://purl.obolibrary.org/obo/MONDO_0010480	UMLS:C2720289|https://omim.org/entry/300908|Orphanet:466026|http://identifiers.org/mesh/C567533	ordo_disease
MONDO:0010482	biolink:Disease	X-linked parkinsonism-spasticity syndrome	X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.	OMIM:300911|Orphanet:363654|UMLS:C3806722	mondo.json	Parkinsonism with spasticity, X-linked, X-linked recessive|PARKINSONISM with spasticity, X-linked|XPDS	http://purl.obolibrary.org/obo/MONDO_0010482	https://omim.org/entry/300911|UMLS:C3806722|Orphanet:363654	ordo_disease
MONDO:0010481	biolink:Disease	angioedema	Swelling involving the deep dermis, subcutaneous, or submucosal tissues, representing localized edema. Angioedema often occurs in the face, lips, tongue, and larynx.	DOID:1558|SCTID:400075008|MESH:D000799|ICD9:995.1|CSP:2716-7007|EFO:0005532|HP:0100665	mondo.json	Urticarias, giant|angioneurotic edema|urticaria, giant|angioneurotic oedema|Edemas, angioneurotic|angioneurotic Edemas|edema, angioneurotic|giant urticaria|giant Urticarias|edema, Quincke's|Quincke's edema|Quincke edema|Quinckes edema|angioedemas	http://purl.obolibrary.org/obo/MONDO_0010481	DOID:1558|http://identifiers.org/snomedct/400075008|http://identifiers.org/mesh/D000799	
MONDO:0022453	biolink:Disease	angiomyomatous hamartoma	An uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph node.	UMLS:C2959445|GARD:0008313	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022453	UMLS:C2959445	gard_rare
MONDO:0022454	biolink:Disease	angiosarcoma of the scalp	Angiosarcoma of the scalp is a rare cancer which most commonly affects the elderly. This condition is characterized by bruise-like lesions that escalate to elevated, nodular, or ulcerated tumors. Extensive local growth is common and metastasis to regional lymph nodes and to the lungs may occur. The cause of angiosarcoma of the scalp is unknown, although several associations have been reported, including lymphedema, prior radiation treatment, and environmental exposures. Treatment may include surgery, radiation and chemotherapy.	GARD:0005814	mondo.json	scalp angiosarcoma (disease)|angiosarcoma (disease) of scalp	http://purl.obolibrary.org/obo/MONDO_0022454		gard_rare
MONDO:0022456	biolink:Disease	ankle defects short stature		GARD:0000694	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022456		gard_rare
MONDO:0022457	biolink:Disease	ankyloblepharon filiforme imperforate anus		GARD:0000697|Orphanet:1074	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022457		gard_rare
MONDO:0022458	biolink:Disease	annular constricting bands	A syndrome characterized by congenital constriction bands, often deformity of the nails with distally located bands, and commonly a malformation of the hand.	GARD:0000704	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022458		gard_rare
MONDO:0010469	biolink:Disease	epsilon-trimethyllysine hydroxylase deficiency		OMIM:300872|UMLS:C3550875	mondo.json	susceptibility to X-linked autism 6|TMLHED|AUTSX6|autism, susceptibility to, X-linked 6, X-linked recessive|autism, susceptibility to, X-linked 6|EPSILON-trimethyllysine HYDROXYLASE deficiency|epsilon-trimethyllysine hydroxylase deficiency	http://purl.obolibrary.org/obo/MONDO_0010469	https://omim.org/entry/300872|UMLS:C3550875	predisposition
CHR:9606-chr22q11.2	biolink:NamedThing	22q11.2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr22q11.2		
MONDO:0009499	biolink:Disease	Krabbe disease	A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.	MESH:D007965|Orphanet:487|UMLS:C0023521|OMIM:245200|ICD10CM:E75.23|GARD:0006844|SCTID:189979005|DOID:10587|MedDRA:10023492|NCIT:C61254	mondo.json	Krabbe's disease|Krabbe disease|galactosylceramide Beta-galactosidase deficiency|globoid cell leukodystrophy|Krabbe leukodystrophy|galactocerebrosidase deficiency|GALC deficiency|beta galactocerebrosidase deficiency|globoid cell leukoencephalopathy|galactosylceramidase deficiency|GLD|Krabbe's leukodystrophy|diffuse globoid body sclerosis|galactosylceramide lipidosis	http://purl.obolibrary.org/obo/MONDO_0009499	Orphanet:487|NCIT:C61254|UMLS:C0023521|http://identifiers.org/mesh/D007965|https://omim.org/entry/245200|DOID:10587|http://identifiers.org/snomedct/189979005|http://purl.bioontology.org/ontology/ICD10CM/E75.23	ordo_disease
MONDO:0009498	biolink:Disease	lethal Kniest-like dysplasia	Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities.	Orphanet:2347|UMLS:C1855605|MESH:C537208|GARD:0003124|OMIM:245190	mondo.json	Kniest-like dysplasia, lethal|arthrosis, flat face, hypotonia, short neck and macrocephaly|Kniest like dysplasia lethal	http://purl.obolibrary.org/obo/MONDO_0009498	Orphanet:2347|http://identifiers.org/mesh/C537208|UMLS:C1855605|https://omim.org/entry/245190	gard_rare|ordo_malformation_syndrome
MONDO:0009497	biolink:Disease	Kifafa seizure disorder		UMLS:C0796010|OMIM:245180|MESH:C537708|GARD:0008420	mondo.json	Complex familial seizure disorder|parkinsonian features and neurologic abnormalities, intellectual disability and transient psychotic episodes|parkinsonian features and neurologic abnormalities, mental retardation and transient psychotic episodes|Kifafa seizure disorder|Vitsala	http://purl.obolibrary.org/obo/MONDO_0009497	http://identifiers.org/mesh/C537708|https://omim.org/entry/245180|UMLS:C0796010	gard_rare
MONDO:0009496	biolink:Disease	Kniest-like dysplasia with pursed lips and ectopia lentis		GARD:0010512|OMIM:245160|UMLS:C1855606	mondo.json	Kniest-like dysplasia with pursed lips and ectopia lentis|burton syndrome	http://purl.obolibrary.org/obo/MONDO_0009496	UMLS:C1855606|https://omim.org/entry/245160	
HP:0001618	biolink:PhenotypicFeature	Dysphonia	An impairment in the ability to produce voice sounds.	SNOMEDCT_US:47004009|MSH:D055154|UMLS:C1527344	mondo.json	Inability to produce voice sounds|Voice change	http://purl.obolibrary.org/obo/HP_0001618		
MONDO:0009495	biolink:Disease	Keutel syndrome	Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.	UMLS:C1855607|GARD:0008449|Orphanet:85202|OMIM:245150|MESH:C536167|SCTID:724208006	mondo.json	KTLS|pulmonic stenosis, brachytelephalangism, and calcification of cartilages|KEUTEL syndrome|Keutel syndrome|pulmonic stenosis brachytelephalangism and calcification of cartilages|pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome	http://purl.obolibrary.org/obo/MONDO_0009495	Orphanet:85202|http://identifiers.org/mesh/C536167|UMLS:C1855607|http://identifiers.org/snomedct/724208006|https://omim.org/entry/245150	gard_rare|ordo_malformation_syndrome
MONDO:0010473	biolink:Disease	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28.	DOID:0060828|Orphanet:324410|OMIM:300886|UMLS:C3550913	mondo.json	mental retardation, X-linked, syndromic 32|intellectual developmental disorder, X-linked syndromic 32, X-linked recessive|mental retardation, X-linked, syndromic type 32|intellectual disability, X-linked, syndromic type 32|MRXS32|intellectual disability, X-linked, syndromic 32	http://purl.obolibrary.org/obo/MONDO_0010473	DOID:0060828|Orphanet:324410|https://omim.org/entry/300886|UMLS:C3550913	ordo_disease
MONDO:0010472	biolink:Disease	developmental and epileptic encephalopathy, 36		SCTID:733451007|DOID:0080470|OMIM:300884|UMLS:C3550904|Orphanet:324422|GARD:0012401	mondo.json	epileptic encephalopathy, early infantile, 36|CDG syndrome type Is|EIEE36|congenital disorder of glycosylation type Is|DEE36|CDG Is|ALG13-CDG|developmental and epileptic encephalopathy 36|congenital disorder of glycosylation type 1s|CDG-Is|congenital disorder of glycosylation, type Is|CDG1S	http://purl.obolibrary.org/obo/MONDO_0010472	https://omim.org/entry/300884|Orphanet:324422|http://identifiers.org/snomedct/733451007|UMLS:C3550904|DOID:0080470	ordo_disease
MONDO:0009494	biolink:Disease	obsolete Ketoadipicaciduria			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009494		
MONDO:0010475	biolink:Disease	X-linked central congenital hypothyroidism with late-onset testicular enlargement	An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency.	NCIT:C130989|OMIM:300888|UMLS:C3550963|Orphanet:329235|DOID:0111140	mondo.json	hypothyroidism Central and testicular enlargement|X-linked central congenital hypothyroidism with late-onset macroorchidism|IGSF1 deficiency syndrome|CHTE|hypothyroidism, central, and testicular enlargement|central hypothyroidism and testicular enlargement|hypothyroidism, central, and testicular enlargement, X-linked recessive|X-linked central congenital hypothyroidism with late-onset testicular enlargement|Immunoglobulin superfamily member 1 deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0010475	NCIT:C130989|https://omim.org/entry/300888|UMLS:C3550963|Orphanet:329235|DOID:0111140	ordo_disease
MONDO:0009493	biolink:Disease	Richards-Rundle syndrome	Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.	OMIM:245100|MESH:C535674|GARD:0008423|Orphanet:1399|SCTID:715415005|UMLS:C0796136	mondo.json	ataxia-deafness-intellectual disability syndrome|ataxia-deafness-mental retardation syndrome|ketoaciduria-intellectual disability-ataxia-deafness syndrome|RRNS|familial ataxia-hypogonadism syndrome|ketoaciduria - intellectual disability - ataxia - deafness|ketoaciduria-mental deficiency syndrome|RICHARDS-RUNDLE syndrome|Richards-Rundle syndrome|ataxia-deafness-retardation syndrome with ketoaciduria	http://purl.obolibrary.org/obo/MONDO_0009493	Orphanet:1399|http://identifiers.org/mesh/C535674|https://omim.org/entry/245100|UMLS:C0796136|http://identifiers.org/snomedct/715415005	ordo_malformation_syndrome
MONDO:0010474	biolink:Disease	linear skin defects with multiple congenital anomalies 2	Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene.	UMLS:C3550921|OMIM:300887	mondo.json	linear skin defects with multiple congenital anomalies 2, X-linked dominant|microphthalmia with linear skin defects syndrome caused by mutation in COX7B|linear skin defects with multiple congenital anomalies type 2|linear skin defects with multiple congenital anomalies 2|LSDMCA2|aplasia cutis congenita, Reticulolinear, with microcephaly, Facial Dysmorphism, and Other congenital anomalies|COX7B microphthalmia with linear skin defects syndrome	http://purl.obolibrary.org/obo/MONDO_0010474	https://omim.org/entry/300887|UMLS:C3550921	
MONDO:0009492	biolink:Disease	succinyl-CoA:3-ketoacid CoA transferase deficiency	Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.	MESH:C537527|ICD9:270.8|Orphanet:832|GARD:0004774|OMIM:245050|SCTID:238004006	mondo.json	Scot deficiency|SCOTD|OXCT1 deficiency|succinyl-CoA:3-oxoacid-CoA transferase deficiency|succinyl-CoA acetoacetate transferase deficiency|3-oxoacid CoA transferase deficiency|succinyl-CoA:3-oxoacid CoA transferase deficiency|ketoacidosis due to Scot deficiency|succinyl-CoA:3-ketoacid CoA transferase deficiency|Succinyl CoA:3-oxoacid CoA transferase deficiency|succinyl-Coa:acetoacetate transferase deficiency|succinyl-Coa:3-ketoacid Coa-transferase deficiency|SCOT deficiency	http://purl.obolibrary.org/obo/MONDO_0009492	http://identifiers.org/mesh/C537527|Orphanet:832|https://omim.org/entry/245050|http://identifiers.org/snomedct/238004006	ordo_disease
MONDO:0009491	biolink:Disease	Haim-Munk syndrome	Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.	OMIM:245010|GARD:0000044|UMLS:C1855627|Orphanet:2342|SCTID:719973009|MESH:C537627	mondo.json	keratosis palmoplantaris with periodontopathia and onychogryposis|Cochin Jewish disorder|palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome|palmoplantar keratoderma-periodontopathia-onychogryposis syndrome|keratosis palmoplantaris-periodontopathia-onychogryposis syndrome|HAIM-Munk syndrome|Haim-Munk syndrome|HMS	http://purl.obolibrary.org/obo/MONDO_0009491	http://identifiers.org/mesh/C537627|UMLS:C1855627|https://omim.org/entry/245010|Orphanet:2342|http://identifiers.org/snomedct/719973009	ordo_disease|gard_rare
MONDO:0010477	biolink:Disease	blepharophimosis - intellectual disability syndrome, MKB type	The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.	SCTID:699297004|UMLS:C3698541|Orphanet:293707|ICD9:759.89|OMIM:300895	mondo.json	OHDOX|Ohdo syndrome, X-linked|X-linked Ohdo syndrome|blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type|blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type|Ohdo syndrome, X-linked, X-linked recessive|BMRS, MKB type|BMRS, Maat-Kievit-Brunner type	http://purl.obolibrary.org/obo/MONDO_0010477	UMLS:C3698541|Orphanet:293707|https://omim.org/entry/300895|http://identifiers.org/snomedct/699297004	ordo_malformation_syndrome
MONDO:0009490	biolink:Disease	Papillon-Lefevre disease	Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.	DOID:3389|NCIT:C84992|UMLS:C0030360|GARD:0003100|MESH:D010214|Orphanet:678|ICD9:759.89|SCTID:40158001|OMIM:245000	mondo.json	Papillon-LEFèvre syndrome|Keratoris palmoplantaris with periodontopathia|PALS|Pls|Papillon-Lefvre syndrome|keratosis palmoplantar-periodontopathy syndrome|palmar-plantar hyperkeratosis and concomitant periodontal destruction|keratosis palmoplantaris with periodontopathia|keratosis palmoplantar - periodontopathy|hyperkeratosis palmoplantaris with periodontosis|PAPILLON-Lefevre syndrome|palmoplantar keratoderma with periodontosis|PLS|Papillon Lefevre syndrome	http://purl.obolibrary.org/obo/MONDO_0009490	http://identifiers.org/snomedct/40158001|Orphanet:678|DOID:3389|http://identifiers.org/mesh/D010214|https://omim.org/entry/245000|NCIT:C84992|UMLS:C0030360	ordo_disease
MONDO:0010476	biolink:Disease	neurodegeneration with brain iron accumulation 5	Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.	UMLS:C3550973|SCTID:732959007|GARD:0012570|OMIM:300894|Orphanet:329284|UMLS:CN168656|DOID:0110739	mondo.json	static encephalopathy of childhood with neurodegeneration in adulthood|SENDA|beta-propeller protein-associated neurodegeneration|neurodegeneration with brain iron accumulation 5|NBIA5|WDR45 neurodegeneration with brain iron accumulation|neurodegeneration with brain iron accululation 5|neurodegeneration with brain iron accumulation type 5|static encephalopathy of childhood with neurdegeneration in adulthood|neurodegeneration with brain iron accumulation 5, X-linked dominant|static encephalopathy Of childhood with neurodegeneration In adulthood|neurodegeneration with brain iron accumulation caused by mutation in WDR45|BPAN	http://purl.obolibrary.org/obo/MONDO_0010476	DOID:0110739|https://omim.org/entry/300894|UMLS:CN168656|http://identifiers.org/snomedct/732959007|Orphanet:329284|UMLS:C3550973	ordo_disease
MONDO:0010479	biolink:Disease	Charcot-Marie-Tooth disease X-linked dominant 6	X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles).	GARD:0012445|Orphanet:352675|OMIM:300905|DOID:0110207|SCTID:763347000|UMLS:C3806702	mondo.json	CMT6X|Charcot-Marie-Tooth disease, X-linked dominant, 6, X-linked dominant|Charcot-Marie-Tooth disease, X-linked dominant, 6|Charcot-Marie-Tooth disease X-linked dominant type 6|Charcot-Marie-Tooth disease, X-linked dominant, type 6|Charcot-Marie-Tooth neuropathy, X-linked dominant, 6|X-linked Charcot-Marie-Tooth disease type 6|CMTX6|Charcot-Marie-Tooth neuropathy X-linked dominant 6	http://purl.obolibrary.org/obo/MONDO_0010479	http://identifiers.org/snomedct/763347000|DOID:0110207|https://omim.org/entry/300905|UMLS:C3806702|Orphanet:352675	ordo_disease
MONDO:0010478	biolink:Disease	SLC35A2-congenital disorder of glycosylation	SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).	UMLS:C3806688|DOID:0070265|OMIM:300896|Orphanet:356961|GARD:0012403	mondo.json	EIEE22|epileptic encephalopathy, early infantile, 22; EIEE22|congenital disorder of glycosylation type IIm|SLC35A2-congenital disorder of glycosylation|CDG syndrome type IIm|congenital disorder of glycosylation type 2m|CDG2M|congenital disorder of glycosylation, type IIm|CDG IIm|CDG-IIm|epileptic encephalopathy, early infantile, 22|congenital disorder of glycosylation, type IIm, Somatic mosaicism, X-linked dominant|SLC35A2-CDG	http://purl.obolibrary.org/obo/MONDO_0010478	Orphanet:356961|https://omim.org/entry/300896|DOID:0070265|UMLS:C3806688	gard_rare|ordo_inheritance_inconsistent|ordo_disease
MONDO:0022448	biolink:Disease	obsolete amyoplasia mandibulofacial dysostosis		GARD:0000660	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022448		gard_rare
MONDO:0010471	biolink:Disease	Cornelia de Lange syndrome 5		DOID:0080509|UMLS:C3550903|OMIM:300882	mondo.json	Cornelia De Lange syndrome type 5|Cornelia DE Lange syndrome 5|Cornelia de Lange syndrome 5|Cornelia de Lange syndrome 5, X-linked dominant|CDLS5	http://purl.obolibrary.org/obo/MONDO_0010471	https://omim.org/entry/300882|UMLS:C3550903|DOID:0080509	
MONDO:0010470	biolink:Disease	obsolete Baratela-Scott syndrome		OMIM:300881	mondo.json		http://purl.obolibrary.org/obo/MONDO_0010470	https://omim.org/entry/300881	
IAO:0000409	biolink:NamedThing	denotator type	A denotator type indicates how a term should be interpreted from an ontological perspective.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000409		
MONDO:0022444	biolink:Disease	amyloidosis bronchopulmonary	Amyloidosis with tracheobronchial deposits in diffuse plaques that can cause stenosis or parenchymal nodules or masses.	GARD:0001026	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022444		gard_rare
HGNC:23405	biolink:NamedThing	LRMDA			mondo.json		http://identifiers.org/hgnc/23405		
NCBITaxon:314145	biolink:OrganismalEntity	Laurasiatheria		PMID:12878460|PMID:11214319|PMID:11214318|GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_314145		
HGNC:23406	biolink:NamedThing	DOLK			mondo.json		http://identifiers.org/hgnc/23406		
NCBITaxon:314146	biolink:OrganismalEntity	Euarchontoglires		PMID:15522813|PMID:11214319|PMID:12878460|GC_ID:1|PMID:12082125	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_314146		
MONDO:0022446	biolink:Disease	obsolete amyloidosis nodular localized cutaneous			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022446		
NCBITaxon:314147	biolink:OrganismalEntity	Glires		PMID:15522813|PMID:11214319|GC_ID:1|PMID:12082125	mondo.json	Rodents and rabbits	http://purl.obolibrary.org/obo/NCBITaxon_314147		
MONDO:0010459	biolink:Disease	amyotrophic lateral sclerosis type 15	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene.	DOID:0060206|OMIM:300857|UMLS:C3275459	mondo.json	amyotrophic lateral sclerosis caused by mutation in UBQLN2|ALS15|amyotrophic lateral sclerosis 15 with or without frontotemporal dementia|amyotrophic lateral sclerosis 15, with or without frontotemporal dementia|amyotrophic lateral sclerosis 15|amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, X-linked dominant|amyotrophic lateral sclerosis type 15|UBQLN2 amyotrophic lateral sclerosis	http://purl.obolibrary.org/obo/MONDO_0010459	DOID:0060206|https://omim.org/entry/300857|UMLS:C3275459	
MONDO:0009469	biolink:Disease	benign recurrent intrahepatic cholestasis type 1	Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity.	GARD:0010028|Orphanet:99960|DOID:0070231|OMIM:243300	mondo.json	cholestasis, benign recurrent intrahepatic|cholestasis, benign recurrent intrahepatic 1|mild ATP8B1 deficiency|cholestasis, benign recurrent intrahepatic, 1|Summerskill syndrome|Bric type 1|BRIC1|recurrent familial intrahepatic cholestasis 1|cholestasis, benign recurrent intrahepatic, type 1|ATP8B1 benign recurrent intrahepatic cholestasis|benign recurrent intrahepatic cholestasis 1|benign recurrent intrahepatic cholestasis caused by mutation in ATP8B1	http://purl.obolibrary.org/obo/MONDO_0009469	DOID:0070231|https://omim.org/entry/243300|Orphanet:99960	gard_rare|ordo_clinical_subtype
MONDO:0010458	biolink:Disease	hypospadias 4, X-linked		OMIM:300856	mondo.json	hypospadias 4, X-linked, susceptibility to|HYSP4	http://purl.obolibrary.org/obo/MONDO_0010458	https://omim.org/entry/300856	
GO:1905030	biolink:NamedThing	voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential	Any voltage-gated ion channel activity that is involved in regulation of postsynaptic membrane potential.		mondo.json	voltage-dependent ion channel activity involved in regulation of post-synaptic membrane potential|voltage-dependent ion channel activity involved in regulation of postsynaptic membrane potential|voltage-gated ion channel activity involved in regulation of post-synaptic membrane potential|voltage gated ion channel activity involved in regulation of post-synaptic membrane potential|voltage gated ion channel activity involved in regulation of postsynaptic membrane potential	http://purl.obolibrary.org/obo/GO_1905030		
MONDO:0009468	biolink:Disease	pseudotumor cerebri	Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible.	SCTID:68267002|GARD:0004561|ICD9:348.2|OMIM:243200|Orphanet:238624|MedDRA:10037149|DOID:11459|MESH:D011559|EFO:1001132|NCIT:C85035|UMLS:C0033845	mondo.json	benign intracran. hypt.|IIH|intracranial hypertension, idiopathic|pseudotumor cerebri|benign intracranial hypertension|idiopathic intracranial hypertension	http://purl.obolibrary.org/obo/MONDO_0009468	DOID:11459|UMLS:C0033845|https://omim.org/entry/243200|http://identifiers.org/snomedct/68267002|Orphanet:238624|http://identifiers.org/mesh/D011559|NCIT:C85035	gard_rare|ordo_disease
MONDO:0009467	biolink:Disease	natal teeth-intestinal pseudoobstruction-patent ductus syndrome		GARD:0003928|MESH:C538341|UMLS:C1855732|OMIM:243185|Orphanet:1654	mondo.json	intestinal pseudoobstruction with patent ductus arteriosus and NATAL teeth|Natal teeth, intestinal pseudoobstruction and patent ductus	http://purl.obolibrary.org/obo/MONDO_0009467	https://omim.org/entry/243185|http://identifiers.org/mesh/C538341|UMLS:C1855732	ordo_malformation_syndrome
MONDO:0009466	biolink:Disease	obsolete neuronal intestinal pseudoobstruction			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009466		
MONDO:0009465	biolink:Disease	multiple intestinal atresia	A rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.	ICD9:751.8|DOID:14671|OMIM:243150|SCTID:95472001|Orphanet:2300|GARD:0003013|Orphanet:436252|MESH:C562441|MedDRA:10028210	mondo.json	multiple gastrointestinal atresias|gastrointestinal defects and immunodeficiency syndrome|familial intestinal polyatresia syndrome|combined immunodeficiency-enteropathy spectrum|GIDID|intestinal atresia multiple|CID-MIA/early-onset IBD|multiple intestinal atresia|intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency|intestinal atresia, multiple	http://purl.obolibrary.org/obo/MONDO_0009465	Orphanet:2300|DOID:14671|http://identifiers.org/snomedct/95472001|http://identifiers.org/mesh/C562441	gard_rare|ordo_disease|ordo_morphological_anomaly
MONDO:0009464	biolink:Disease	immunodeficiency with defective T-cell response to interleukin 1		OMIM:243110|UMLS:C1855735	mondo.json	immunodeficiency with defective T-cell response to Interleukin type 1|Interleukin 1, defective T-cell response to|immunodeficiency with defective T-cell response to interleukin 1	http://purl.obolibrary.org/obo/MONDO_0009464	https://omim.org/entry/243110|UMLS:C1855735	
MONDO:0009463	biolink:Disease	internal carotid arteries, hypoplasia of		OMIM:243100	mondo.json	internal carotid arteries, hypoplasia of	http://purl.obolibrary.org/obo/MONDO_0009463	https://omim.org/entry/243100	
MONDO:0010462	biolink:Disease	syndromic X-linked intellectual disability Chudley-Schwartz type	A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material basis in variation in the chromosomal region Xq21.33-q23.	DOID:0060819|UMLS:C3275471|OMIM:300861	mondo.json	X-linked intellectual disability with seizures, hypogammaglobinemia, and gait disturbance|mental retardation, X-linked, syndromic, Chudley-Schwartz type|X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance|mental retardation, X-linked, syndromic, Chudley-Schwartz type, X-linked recessive|MRXSCS|intellectual disability, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance|intellectual disability, X-linked, syndromic, Chudley-Schwartz type|mental retardation, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance	http://purl.obolibrary.org/obo/MONDO_0010462	https://omim.org/entry/300861|DOID:0060819|UMLS:C3275471	
MONDO:0009462	biolink:Disease	inosine phosphorylase deficiency, immune defect due to		UMLS:C1855737|MESH:C565465|OMIM:243080	mondo.json	inosine phosphorylase deficiency, immune defect due to	http://purl.obolibrary.org/obo/MONDO_0009462	https://omim.org/entry/243080|http://identifiers.org/mesh/C565465|UMLS:C1855737	
MONDO:0010461	biolink:Disease	syndromic X-linked intellectual disability Nascimento type	X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.	UMLS:C3275464|OMIM:300860|DOID:0060820|Orphanet:163956	mondo.json	intellectual disability, X-linked, syndromic, Nascimento type|X-linked intellectual disability, Nascimento type|syndromic X-linked intellectual disability Nascimento type|mental retardation, X-linked, syndromic, Nascimento type|MRXSN|intellectual disability, X-linked, syndromic 30|intellectual disability, X-linked syndromic, Nascimento-type|intellectual developmental disorder, X-linked syndromic, Nascimento type, X-linked recessive|mental retardation, X-linked syndromic, Nascimento-type|X-linked intellectual disability-nail dystrophy-seizures syndrome|mental retardation, X-linked, syndromic 30	http://purl.obolibrary.org/obo/MONDO_0010461	Orphanet:163956|DOID:0060820|UMLS:C3275464|https://omim.org/entry/300860	ordo_disease
MONDO:0009461	biolink:Disease	spermatogenic failure 5	Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).	UMLS:C0403812|MESH:C562903|OMIM:243060|GARD:0012385|SCTID:236806004|Orphanet:137893|DOID:0070183	mondo.json	male infertility due to macrozoospermia|macrocephalic sperm head syndrome|male infertility with large-headed, multiflagellar, polyploid spermatozoa|infertility associated with multi-tailed spermatozoa and excessive DNA|infertility associated with multitailed spermatozoa and excessive DNA|male infertility due to large-headed multiflagellar polyploid spermatozoa|spermatogenic failure 5|SPGF5|macrozoospermia|spermatogenic failure type 5	http://purl.obolibrary.org/obo/MONDO_0009461	https://omim.org/entry/243060|Orphanet:137893|UMLS:C0403812|http://identifiers.org/snomedct/236806004|DOID:0070183|http://identifiers.org/mesh/C562903	ordo_clinical_subtype
MONDO:0010464	biolink:Disease	X-linked cerebral-cerebellar-coloboma syndrome syndrome	A rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.	UMLS:C3275487|Orphanet:163961|OMIM:300864	mondo.json	cerebral-cerebellar-coloboma syndrome, X-linked|X-linked cerebral-cerebellar-coloboma syndrome|X-linked intellectual disability, Kroes type|cerebral-cerebellar-coloboma syndrome, X-linked, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0010464	Orphanet:163961|https://omim.org/entry/300864|UMLS:C3275487	ordo_disease
MONDO:0009460	biolink:Disease	indolylacroyl glycinuria with intellectual disability		UMLS:C1855738|MESH:C565466|OMIM:243050	mondo.json	indolylacroyl glycinuria with mental retardation|indolylacroyl glycinuria with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0009460	https://omim.org/entry/243050|http://identifiers.org/mesh/C565466|UMLS:C1855738	
MONDO:0010463	biolink:Disease	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	A rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.	Orphanet:163966|UMLS:C3275476|SCTID:719837003|OMIM:300863	mondo.json	chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, X-linked dominant|X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome|chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	http://purl.obolibrary.org/obo/MONDO_0010463	Orphanet:163966|UMLS:C3275476|https://omim.org/entry/300863|http://identifiers.org/snomedct/719837003	ordo_disease
MONDO:0010466	biolink:Disease	multiple congenital anomalies-hypotonia-seizures syndrome 2	Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.	GARD:0012777|OMIM:300868|UMLS:C3275508|Orphanet:300496|DOID:0080139	mondo.json	epileptic encephalopathy, early infantile, 20|MCAHS2|developmental and epileptic encephalopathy 20|multiple congenital anomalies-hypotonia-seizures syndrome type 2|GPIBD4|DEE20|multiple congenital anomalies-hypotonia-seizures syndrome 2|multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA|glycosylphosphatidylinositol biosynthesis defect 4|multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive|MCAHS type 2|PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010466	Orphanet:300496|https://omim.org/entry/300868|UMLS:C3275508|DOID:0080139	ordo_malformation_syndrome
HGNC:11427	biolink:NamedThing	STUB1			mondo.json		http://identifiers.org/hgnc/11427		
MONDO:0010465	biolink:Disease	Kabuki syndrome 2		OMIM:300867|UMLS:C3275495	mondo.json	KABUK2|KABUKI syndrome 2|Kabuki syndrome 2|Kabuki syndrome type 2|Kabuki syndrome 2, X-linked dominant	http://purl.obolibrary.org/obo/MONDO_0010465	https://omim.org/entry/300867|UMLS:C3275495	
MONDO:0010468	biolink:Disease	aneurysm, intracranial berry, 5		OMIM:300870|MESH:C563670|UMLS:C1835857	mondo.json	aneurysm, intracranial BERRY, 5|ANIB5	http://purl.obolibrary.org/obo/MONDO_0010468	http://identifiers.org/mesh/C563670|https://omim.org/entry/300870|UMLS:C1835857	
HGNC:11425	biolink:NamedThing	STS			mondo.json		http://identifiers.org/hgnc/11425		
MONDO:0010467	biolink:Disease	Xq27.3q28 duplication syndrome	Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.	Orphanet:261483|OMIM:300869|UMLS:C3275521	mondo.json	Xq27.3-q28 microduplication syndrome|dup(X)(q27.3q28)|chromosome xq27.3-q28 duplication syndrome, X-linked recessive|chromosome Xq27.3-q28 DUPLICATION syndrome|trisomy Xq27.3-q28|trisomy Xq27.3q28	http://purl.obolibrary.org/obo/MONDO_0010467	https://omim.org/entry/300869|UMLS:C3275521|Orphanet:261483	ordo_malformation_syndrome
IAO:0000411	biolink:NamedThing	is denotator type	Relates an class defined in an ontology, to the type of it's denotator		mondo.json		http://purl.obolibrary.org/obo/IAO_0000411		
IAO:0000412	biolink:NamedThing	imported from	For external terms/classes, the ontology from which the term was imported		mondo.json		http://purl.obolibrary.org/obo/IAO_0000412		
IAO:0000410	biolink:NamedThing	universal			mondo.json		http://purl.obolibrary.org/obo/IAO_0000410		
MONDO:0010460	biolink:Disease	syndromic X-linked intellectual disability 17	Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.	DOID:0060803|OMIM:300858|Orphanet:289483|UMLS:C3275460	mondo.json	intellectual disability-alacrima-achalasia syndrome|intellectual disability, X-linked, with alacrima and achalasia|X-linked mental retardation with alacrima and achalasia|MRXS17|mental retardation, X-linked, with alacrima and achalasia|intellectual disability, X-linked, syndromic 17|mental retardation, X-linked, syndromic 17, X-linked recessive|mental retardation, X-linked, syndromic 17|syndromic X-linked intellectual disability type 17|X-linked intellectual disability with alacrima and achalasia	http://purl.obolibrary.org/obo/MONDO_0010460	Orphanet:289483|DOID:0060803|https://omim.org/entry/300858|UMLS:C3275460	ordo_disease
MONDO:0022430	biolink:Disease	persistent fetal circulation syndrome	A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus.	SCTID:206597007|NCIT:C85006|SCTID:233815004|SCTID:35604006|UMLS:C0031190	mondo.json	PPHN|persistent fetal circulation|persistent pulmonary hypertension of the newborn	http://purl.obolibrary.org/obo/MONDO_0022430	NCIT:C85006|http://identifiers.org/snomedct/233815004	
MONDO:0022432	biolink:Disease	alves Castelo dos Santos syndrome		MESH:C536593	mondo.json	ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, and cataract	http://purl.obolibrary.org/obo/MONDO_0022432	http://identifiers.org/mesh/C536593	
MONDO:0022434	biolink:Disease	obsolete amelia cleft lip palate hydrocephalus iris coloboma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022434		
MONDO:0022435	biolink:Disease	Mauriac syndrome	A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features.	SCTID:80660001|GTR:AN0543890|NCIT:C130997|ICD9:258.1|GTR:AN0543843|UMLS:C0221005	mondo.json	Mauriac syndrome|Mauriac's syndrome|dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome	http://purl.obolibrary.org/obo/MONDO_0022435	UMLS:C0221005|http://identifiers.org/snomedct/80660001|NCIT:C130997	
MONDO:0010448	biolink:Disease	moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.	UMLS:C3151857|Orphanet:280679|OMIM:300845	mondo.json	syndromic Moyamoya disease|Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism|moyamoya disease 4, X-linked recessive|Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|MYMY4|chromosome Xq28 deletion syndrome, 3.4-Kb	http://purl.obolibrary.org/obo/MONDO_0010448	UMLS:C3151857|https://omim.org/entry/300845|Orphanet:280679	ordo_disease
MONDO:0010447	biolink:Disease	intellectual disability, X-linked 19	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RPS6KA3 gene.	UMLS:C0796225|MESH:C563141|OMIM:300844	mondo.json	intellectual disability, X-linked type 19|non-syndromic X-linked intellectual disability caused by mutation in RPS6KA3|MRX19|mental retardation, X-linked 19|RPS6KA3 non-syndromic X-linked intellectual disability|intellectual disability, X-linked 19|mental retardation, X-linked type 19|intellectual developmental disorder, X-linked 19, X-linked dominant	http://purl.obolibrary.org/obo/MONDO_0010447	UMLS:C0796225|http://identifiers.org/mesh/C563141|https://omim.org/entry/300844	
MONDO:0009479	biolink:Disease	Johanson-Blizzard syndrome	A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.	OMIM:260450|ICD9:759.89|DOID:14694|OMIM:243800|GARD:0000080|MESH:C535880|Orphanet:2315|MESH:C564907|UMLS:C1850081|SCTID:75979009|UMLS:C0175692|EFO:0001063	mondo.json	pancreatic insufficiency, combined exocrine|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness|Johanson-BLIZZARD syndrome|Johanson-Blizzard syndrome|JBS|nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness	http://purl.obolibrary.org/obo/MONDO_0009479	UMLS:C1850081|Orphanet:2315|http://identifiers.org/snomedct/75979009|UMLS:C0175692|https://omim.org/entry/243800|DOID:14694|http://identifiers.org/mesh/C535880|http://identifiers.org/mesh/C564907	ordo_malformation_syndrome|gard_rare
HGNC:11429	biolink:NamedThing	STX11			mondo.json		http://identifiers.org/hgnc/11429		
MONDO:0010449	biolink:Disease	autism, susceptibility to, X-linked 5		OMIM:300847	mondo.json	susceptibility to X-linked autism 5|AUTSX5|autism, susceptibility to, X-linked 5|autism, susceptibility to, X-linked type 5	http://purl.obolibrary.org/obo/MONDO_0010449	https://omim.org/entry/300847	predisposition
MONDO:0009478	biolink:Disease	combined immunodeficiency due to DOCK8 deficiency	Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).	GARD:0002816|OMIM:243700|Orphanet:217390|NCIT:C126343|UMLS:C1968689	mondo.json	Cid due to DOCK8 deficiency|hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive|combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency|DOCK8 deficiency|hyper Ig E syndrome, autosomal recessive|dedicator of cytokinesis 8 deficiency|hyper-IgE syndrome, autosomal recessive|HIES autosomal recessive|autosomal recessive hyper IgE syndrome|combined immunodeficiency due to DOCK8 deficiency|AR hyperimmunoglobulin E syndrome|HIES, autosomal recessive|DOCK8 immunodeficiency syndrome|AR-HIES|hyper-IgE recurrent infection syndrome, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009478	https://omim.org/entry/243700|NCIT:C126343|Orphanet:217390|UMLS:C1968689	gard_rare|ordo_disease
MONDO:0009477	biolink:Disease	Stromme syndrome	An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).	DOID:0110595|OMIM:243605|EFO:0009160|OMIM:616369|Orphanet:506307|Orphanet:444069|MESH:C565460|UMLS:CN237682	mondo.json	primary ciliary dyskinesia 31|apple peel syndrome with microcephaly and ocular anomalies|apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome|ciliary dyskinesia, primary, 31|jejunal atresia-microcephaly-ocular anomalies syndrome|CILD31|STROMS|lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome|Stromme syndrome|jejunal atresia with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|ciliary dyskinesia, primary, type 31	http://purl.obolibrary.org/obo/MONDO_0009477	https://omim.org/entry/243605|http://identifiers.org/mesh/C565460|UMLS:CN237682|DOID:0110595|Orphanet:444069|Orphanet:506307	ordo_malformation_syndrome
MONDO:0009476	biolink:Disease	atresia of small intestine	Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis. The most important cause of mortality is short bowel syndrome, encountered in 65% of cases.	UMLS:C0021828|MESH:C538260|NCIT:C98828|GARD:0006799|UMLS:C0266172|Orphanet:1201|GARD:0000140|MedDRA:10010626|OMIM:243600	mondo.json	familial apple peel jejunal atresia|APSB|congenital small intestine atresia|jejunal atresia|small intestinal atresia|Jejunoileal atresia|atresia of the small intestine|congenital atresia of the small intestine|apple peel syndrome|small intestine atresia|intestinal atresia type IIIb|apple-peel intestinal atresia|apple peel small bowel syndrome	http://purl.obolibrary.org/obo/MONDO_0009476	http://identifiers.org/mesh/C538260|UMLS:C0266172|https://omim.org/entry/243600|Orphanet:1201|NCIT:C98828	gard_rare|ordo_morphological_anomaly
MONDO:0009475	biolink:Disease	isovaleric acidemia	Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.	MESH:C538167|ICD10CM:E71.110|Orphanet:33|OMIM:243500|GARD:0000465|UMLS:C0268575|DOID:14753|SCTID:87827003|NCIT:C98964	mondo.json	isovaleryl-CoA dehydrogenase deficiency|IVD deficiency|isovaleric aciduria|Isovalericacidemia|IVA|isovaleric acid CoA dehydrogenase deficiency|isovaleric acidemia|isovaleric acid Coa dehydrogenase deficiency|isovaleryl CoA carboxylase deficiency	http://purl.obolibrary.org/obo/MONDO_0009475	UMLS:C0268575|http://identifiers.org/mesh/C538167|https://omim.org/entry/243500|DOID:14753|http://purl.bioontology.org/ontology/ICD10CM/E71.110|Orphanet:33|NCIT:C98964|http://identifiers.org/snomedct/87827003	ordo_disease|gard_rare
MONDO:0009474	biolink:Disease	isovaleric acid, inability to smell		OMIM:243450	mondo.json	isovaleric acid, inability to smell	http://purl.obolibrary.org/obo/MONDO_0009474	https://omim.org/entry/243450	
MONDO:0010451	biolink:Disease	intellectual disability, X-linked 41	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the GDI1 gene.	OMIM:300849|UMLS:C3887939	mondo.json	non-syndromic X-linked intellectual disability caused by mutation in GDI1|intellectual disability, X-linked 48|mental retardation, X-linked 48|intellectual disability, X-linked 41|intellectual developmental disorder, X-linked 41, X-linked dominant|MRX41|mental retardation, X-linked 41|intellectual disability, X-linked type 41|GDI1 non-syndromic X-linked intellectual disability|mental retardation, X-linked type 41	http://purl.obolibrary.org/obo/MONDO_0010451	UMLS:C3887939|https://omim.org/entry/300849	
MONDO:0009473	biolink:Disease	isotretinoin-like syndrome	Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy.	SCTID:722006004|OMIM:243440|Orphanet:2306|MESH:C535542|GARD:0009675	mondo.json	microtia-aortic arch syndrome|Kawashima syndrome|microtia-aortic Arch syndrome|Isotretinoin embryopathy like syndrome|microtia aortic arch syndrome|syndrome of microtia and aortic arch anomalies|ISOTRETINOIN embryopathy-like syndrome	http://purl.obolibrary.org/obo/MONDO_0009473	http://identifiers.org/snomedct/722006004|Orphanet:2306|https://omim.org/entry/243440|http://identifiers.org/mesh/C535542	ordo_malformation_syndrome
MONDO:0009472	biolink:Disease	acetylation, slow		OMIM:243400	mondo.json	acetylation, Fast|slow acetylator phenotype|INH inactivation, slow|Isoniazid inactivation, slow|INH inactivation, Fast|acetylation, slow|Fast acetylator phenotype	http://purl.obolibrary.org/obo/MONDO_0009472	https://omim.org/entry/243400	
GO:1905038	biolink:NamedThing	regulation of membrane lipid metabolic process	Any process that modulates the frequency, rate or extent of membrane lipid metabolic process.		mondo.json	regulation of membrane lipid metabolism	http://purl.obolibrary.org/obo/GO_1905038		
MONDO:0010450	biolink:Disease	intellectual disability, X-linked 89		MESH:C564036|OMIM:300848	mondo.json	intellectual disability, X-linked 89|MRX89|mental retardation, X-linked 89|mental retardation, X-linked 89, X-linked dominant	http://purl.obolibrary.org/obo/MONDO_0010450	http://identifiers.org/mesh/C564036|https://omim.org/entry/300848	
MONDO:0010453	biolink:Disease	intellectual disability, X-linked 92		UMLS:C1845144|MESH:C564483|OMIM:300851	mondo.json	mental retardation, X-linked 92, X-linked recessive|intellectual disability, X-linked 92|MRX92|mental retardation, X-linked 92	http://purl.obolibrary.org/obo/MONDO_0010453	http://identifiers.org/mesh/C564483|https://omim.org/entry/300851|UMLS:C1845144	
MONDO:0009471	biolink:Disease	intrinsic factor and r binder, combined congenital deficiency of		OMIM:243320|MESH:C565461|UMLS:C1855721	mondo.json	intrinsic factor and r binder, combined congenital deficiency of	http://purl.obolibrary.org/obo/MONDO_0009471	https://omim.org/entry/243320|http://identifiers.org/mesh/C565461|UMLS:C1855721	
GO:1905039	biolink:NamedThing	carboxylic acid transmembrane transport	The process in which carboxylic acid is transported across a membrane.		mondo.json		http://purl.obolibrary.org/obo/GO_1905039		
MONDO:0009470	biolink:Disease	Baraitser-Winter syndrome 1	Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene.	UMLS:C1853623|OMIM:243310|UMLS:C1837819	mondo.json	intellectual disability with epilepsy and characteristic facies|mental retardation with epilepsy and characteristic facies|pachygyria, mental retardation, epilepsy, and characteristic facies|Baraitser-Winter syndrome type 1|BRWS1|iris coloboma with ptosis, hypertelorism, and intellectual disability|iris coloboma with ptosis, hypertelorism, and mental retardation|Fryns-Aftimos syndrome|cerebrofrontofacial syndrome|ACTB-related BAFopathy|Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB|Baraitser-WINTER syndrome 1|cerebrooculofacial lymphatic syndrome|Baraitser-Winter syndrome 1|chromosome 7P22 deletion syndrome|ACTB Baraitser-Winter cerebrofrontofacial syndrome|pachygyria, intellectual disability, epilepsy, and characteristic facies	http://purl.obolibrary.org/obo/MONDO_0009470	https://omim.org/entry/243310|UMLS:C1853623|UMLS:C1837819	clingen
MONDO:0010452	biolink:Disease	intellectual disability, X-linked 90	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene.	OMIM:300850|UMLS:C3275443	mondo.json	intellectual developmental disorder, X-linked 90, X-linked recessive|non-syndromic X-linked intellectual disability caused by mutation in DLG3|intellectual disability, X-linked 90|intellectual disability, X-linked type 90|MRX90|mental retardation, X-linked 90|DLG3 non-syndromic X-linked intellectual disability|mental retardation, X-linked type 90	http://purl.obolibrary.org/obo/MONDO_0010452	https://omim.org/entry/300850|UMLS:C3275443	
HGNC:11431	biolink:NamedThing	STX16			mondo.json		http://identifiers.org/hgnc/11431		
MONDO:0010455	biolink:Disease	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.	GARD:0010907|UMLS:C3275445|Orphanet:317476|SCTID:711481001|DOID:0080319|OMIM:300853	mondo.json	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia|X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia|XMEN|X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia|combined immunodeficiency due to MAGT1 deficiency|immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked recessive|Cid due to MAGT1 deficiency|immunodeficiency, X-linked, with magnesium defect, Epstein-Barr VIRUS infection, and neoplasia	http://purl.obolibrary.org/obo/MONDO_0010455	http://identifiers.org/snomedct/711481001|DOID:0080319|Orphanet:317476|https://omim.org/entry/300853|UMLS:C3275445	ordo_disease
MONDO:0010454	biolink:Disease	intellectual disability, X-linked 88		UMLS:C3275444|OMIM:300852	mondo.json	intellectual disability, XMEN-linked 88|mental retardation, X-linked 88|intellectual disability, X-linked 88|MRX88	http://purl.obolibrary.org/obo/MONDO_0010454	https://omim.org/entry/300852|UMLS:C3275444	
MONDO:0010457	biolink:Disease	Ogden syndrome	Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.	Orphanet:276432|MESH:C536107|GARD:0000188|UMLS:C3275447|DOID:0050781|OMIM:300855|HGNC:7645	mondo.json	NAT1 deficiency|Ogden syndrome, X-linked recessive, X-linked dominant|N acetyltransferase deficiency|Acetyl-CoA:arylamine n-acetyltransferase|arylamine n-acetyltransferase 1|N acetyltransferase 1 deficiency|X-linked malformation and infantile lethality syndrome|Ogden syndrome|OGDNS|N-terminal acetyltransferase deficiency|N-alpha-acetyltransferase|premature aging appearance-developmental delay-cardiac arrhythmia syndrome	http://purl.obolibrary.org/obo/MONDO_0010457	http://identifiers.org/mesh/C536107|DOID:0050781|Orphanet:276432|https://omim.org/entry/300855|UMLS:C3275447	ordo_malformation_syndrome|gard_rare
MONDO:0010456	biolink:Disease	renal cell carcinoma, Xp11-associated		UMLS:C3275446|OMIM:300854	mondo.json	renal cell carcinoma, papillary, 1|renal cell carcinoma, Xp11-associated|RCCX1	http://purl.obolibrary.org/obo/MONDO_0010456	https://omim.org/entry/300854|UMLS:C3275446	
IAO:0000424	biolink:NamedThing	expand expression to	A macro expansion tag applied to an object property (or possibly a data property)  which can be used by a macro-expansion engine to generate more complex expressions from simpler ones		mondo.json		http://purl.obolibrary.org/obo/IAO_0000424		
IAO:0000425	biolink:NamedThing	expand assertion to	A macro expansion tag applied to an annotation property which can be expanded into a more detailed axiom.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000425		
MONDO:0022428	biolink:Disease	aluminosis	Aluminosis is characterized as diffuse interstitial fibrosis which is mainly located in the upper and middle lobes of the lung. In advanced stages it is characterized by subpleural bullous emphysema with an increased risk of spontaneous pneumothorax.	SCTID:90623003|UMLS:C0311227|GARD:0008357	mondo.json	aluminium lung|pulmonary aluminosis|aluminosis of lung	http://purl.obolibrary.org/obo/MONDO_0022428	http://identifiers.org/snomedct/90623003|UMLS:C0311227	gard_rare
IAO:0000423	biolink:NamedThing	to be replaced with external ontology term	Terms with this status should eventually replaced with a term from another ontology.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000423		
IAO:0000420	biolink:NamedThing	defined class	A defined class is a class that is defined by a set of logically necessary and sufficient conditions but is not a universal		mondo.json		http://purl.obolibrary.org/obo/IAO_0000420		
IAO:0000421	biolink:NamedThing	named class expression	A named class expression is a logical expression that is given a name. The name can be used in place of the expression.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000421		
OBO:mondo#disease_triggers	biolink:NamedThing	disease triggers			mondo.json		http://purl.obolibrary.org/obo/mondo#disease_triggers		
HP:0001649	biolink:PhenotypicFeature	Tachycardia	A rapid heartrate that exceeds the range of the normal resting heartrate for age.	UMLS:C4020868|SNOMEDCT_US:86651002|UMLS:C0039231|SNOMEDCT_US:3424008|MSH:D013610	mondo.json	Increased heart rate|Rapid heart beat|Fast heart rate|Elevated heart rate|Heart racing|Racing heart	http://purl.obolibrary.org/obo/HP_0001649		
HP:0001644	biolink:PhenotypicFeature	Dilated cardiomyopathy	Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.	MSH:D002311|SNOMEDCT_US:195021004|UMLS:C0007193|Fyler:1843|SNOMEDCT_US:399020009	mondo.json	Stretched and thinned heart muscle|Congestive cardiomyopathy|Cardiomyopathy, dilated|DCM	http://purl.obolibrary.org/obo/HP_0001644		
GO:0090482	biolink:NamedThing	vitamin transmembrane transporter activity	Enables the transfer of a vitamin from one side of a membrane to the other.		mondo.json	vitamin or cofactor transporter activity|vitamin transporter activity	http://purl.obolibrary.org/obo/GO_0090482		
MONDO:0022495	biolink:Disease	obsolete arthritis short stature deafness		GARD:0000775	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022495		
MONDO:0022496	biolink:Disease	arthrogryposis IUGR thoracic dystrophy	A syndrome characterized by severe intrauterine growth retardation, psychomotor delay and recurrent infections, craniofacial dysostosis, a progeroid appearance, arthrogryposis and camptodactylia.	GARD:0000782	mondo.json	Van Bervliet syndrome	http://purl.obolibrary.org/obo/MONDO_0022496		gard_rare
HGNC:11408	biolink:NamedThing	STK4			mondo.json		http://identifiers.org/hgnc/11408		
HP:0001651	biolink:PhenotypicFeature	Dextrocardia	The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.	UMLS:C0011813|EPCC:02.01.02|SNOMEDCT_US:27637000|ICD-10:Q24.0|Fyler:110|MSH:D003914|Fyler:0110	mondo.json	Thoracic situs inversus|Heart tip and four chambers point towards right side of body	http://purl.obolibrary.org/obo/HP_0001651		
HGNC:11411	biolink:NamedThing	CDKL5			mondo.json		http://identifiers.org/hgnc/11411		
HP:0001650	biolink:PhenotypicFeature	Aortic valve stenosis	The presence of a stenosis (narrowing) of the aortic valve.	SNOMEDCT_US:60573004|UMLS:C0003507|MSH:D001024|Fyler:1411	mondo.json	Narrowing of aortic valve|Aortic stenosis|Valvular aortic stenosis	http://purl.obolibrary.org/obo/HP_0001650		
HP:0001654	biolink:PhenotypicFeature	Abnormal heart valve morphology	Any structural abnormality of a cardiac valve.	MSH:D006349|UMLS:C0241654|UMLS:C0018824|SNOMEDCT_US:368009	mondo.json	Valvular abnormality|Abnormality of the heart valves|Valvular heart disease	http://purl.obolibrary.org/obo/HP_0001654		
GO:0090497	biolink:NamedThing	mesenchymal cell migration	The orderly movement of a mesenchymal cell from one site to another, often during the development of a multicellular organism.		mondo.json		http://purl.obolibrary.org/obo/GO_0090497		
HP:0001626	biolink:PhenotypicFeature	Abnormality of the cardiovascular system	Any abnormality of the cardiovascular system.	SNOMEDCT_US:49601007|MSH:D018376|MSH:D002318|UMLS:C0007222|UMLS:C0243050	mondo.json	Cardiovascular disease|Cardiovascular abnormality|Abnormality of the cardiovascular system	http://purl.obolibrary.org/obo/HP_0001626		
HP:0001627	biolink:PhenotypicFeature	Abnormal heart morphology	Any structural anomaly of the heart.	UMLS:C0152021|UMLS:C0018798|MSH:D006330|SNOMEDCT_US:13213009	mondo.json	Cardiac anomalies|Congenital heart defects|Congenital heart defect|Heart defect|Cardiac abnormality|Abnormality of cardiac morphology|Abnormality of the heart|Cardiac anomaly|Abnormally shaped heart	http://purl.obolibrary.org/obo/HP_0001627		
MONDO:0022481	biolink:Disease	APO A-i deficiency		GARD:0000758	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022481		gard_rare
MONDO:0022482	biolink:Disease	obsolete apolipoprotein C 2i deficiency		GARD:0000759	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022482		gard_rare
GO:0016485	biolink:NamedThing	protein processing	Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein.		mondo.json	protein maturation by peptide bond hydrolysis|protein maturation by peptide bond cleavage|protein maturation by proteolysis|peptidolysis during protein maturation	http://purl.obolibrary.org/obo/GO_0016485		
GO:0016482	biolink:NamedThing	cytosolic transport	The directed movement of substances or organelles within the cytosol.		mondo.json		http://purl.obolibrary.org/obo/GO_0016482		
GO:1905082	biolink:NamedThing	regulation of mitochondrial translational elongation	Any process that modulates the frequency, rate or extent of mitochondrial translational elongation.		mondo.json	regulation of mitochondrial translation elongation	http://purl.obolibrary.org/obo/GO_1905082		
GO:1905083	biolink:NamedThing	negative regulation of mitochondrial translational elongation	Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial translational elongation.		mondo.json	inhibition of mitochondrial translation elongation|down-regulation of mitochondrial translation elongation|negative regulation of mitochondrial translation elongation|downregulation of mitochondrial translational elongation|down regulation of mitochondrial translational elongation|downregulation of mitochondrial translation elongation|inhibition of mitochondrial translational elongation|down-regulation of mitochondrial translational elongation|down regulation of mitochondrial translation elongation	http://purl.obolibrary.org/obo/GO_1905083		
GO:1905084	biolink:NamedThing	positive regulation of mitochondrial translational elongation	Any process that activates or increases the frequency, rate or extent of mitochondrial translational elongation.		mondo.json	upregulation of mitochondrial translation elongation|up regulation of mitochondrial translational elongation|activation of mitochondrial translational elongation|positive regulation of mitochondrial translation elongation|up-regulation of mitochondrial translational elongation|up regulation of mitochondrial translation elongation|activation of mitochondrial translation elongation|up-regulation of mitochondrial translation elongation|upregulation of mitochondrial translational elongation	http://purl.obolibrary.org/obo/GO_1905084		
HP:0001637	biolink:PhenotypicFeature	Abnormal myocardium morphology	A structural anomaly of the muscle layer of the heart wall.	UMLS:C4025758	mondo.json	Abnormality of the myocardium	http://purl.obolibrary.org/obo/HP_0001637		
HP:0001638	biolink:PhenotypicFeature	Cardiomyopathy	A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.	MSH:D009202|Fyler:1840|UMLS:C0878544|SNOMEDCT_US:57809008|SNOMEDCT_US:85898001	mondo.json	Disease of the heart muscle	http://purl.obolibrary.org/obo/HP_0001638		
HP:0001635	biolink:PhenotypicFeature	Congestive heart failure	The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.	SNOMEDCT_US:42343007|MSH:D006333|SNOMEDCT_US:84114007|UMLS:C0018802|UMLS:C0018801	mondo.json	Heart failure|Chronic heart failure|Cardiac insufficiency|Cardiac failures|Cardiac failure|CHF	http://purl.obolibrary.org/obo/HP_0001635		
CHR:9606-chr2p12-p11.2	biolink:NamedThing	2p12-p11.2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr2p12-p11.2		
MONDO:0022470	biolink:Disease	aortic dissection lentiginosis	A syndrome characterized by arterial dissections, multiple lentigines, and cystic medial necrosis.	GARD:0000742	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022470		gard_rare
MONDO:0022471	biolink:Disease	childhood aortic valve stenosis		GARD:0000744	mondo.json	aortic valves stenosis of the child	http://purl.obolibrary.org/obo/MONDO_0022471		gard_rare
MONDO:0010495	biolink:Disease	trichothiodystrophy 5, nonphotosensitive	Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene.	UMLS:C4225420|OMIM:300953	mondo.json	RNF113A nonphotosensitive trichothiodystrophy|nonphotosensitive trichothiodystrophy caused by mutation in RNF113A|trichothiodystrophy 5, nonphotosensitive|TTD5	http://purl.obolibrary.org/obo/MONDO_0010495	https://omim.org/entry/300953|UMLS:C4225420	
MONDO:0010494	biolink:Disease	linear skin defects with multiple congenital anomalies 3	Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene.	OMIM:300952|UMLS:C4225421	mondo.json	linear skin defects with multiple congenital anomalies type 3|linear skin defects with multiple congenital anomalies 3|linear skin defects with cardiomyopathy and Other congenital anomalies|LSDMCA3|microphthalmia with linear skin defects syndrome caused by mutation in NDUFB11|linear skin defects with multiple congenital anomalies 3, X-linked dominant|NDUFB11 microphthalmia with linear skin defects syndrome	http://purl.obolibrary.org/obo/MONDO_0010494	https://omim.org/entry/300952|UMLS:C4225421	
MONDO:0010497	biolink:Disease	intellectual disability, X-linked 102	An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.	OMIM:300958|GARD:0012715|NCIT:C129931|UMLS:C4085582	mondo.json	intellectual disability, X-linked 102|DDX3X non-syndromic X-linked intellectual disability|intellectual developmental disorder, X-linked, syndrome, Snijders Blok type, X-linked recessive, X-linked dominant|DDX3X-related intellectual disability|mental retardation, X-linked 102|MRX102|intellectual disability, X-linked type 102|non-syndromic X-linked intellectual disability caused by mutation in DDX3X|mental retardation, X-linked type 102	http://purl.obolibrary.org/obo/MONDO_0010497	https://omim.org/entry/300958|NCIT:C129931|UMLS:C4085582	
MONDO:0010496	biolink:Disease	X-linked intellectual disability-short stature-overweight syndrome	X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted.	OMIM:300957|Orphanet:457240|UMLS:C0796218	mondo.json	intellectual disability, X-linked type 12|intellectual disability, X-linked 12|MRX12|mental retardation, X-linked 12|mental retardation, X-linked type 12|intellectual developmental disorder, X-linked 12, X-linked recessive|intellectual disability, X-linked 35|mental retardation, X-linked 35	http://purl.obolibrary.org/obo/MONDO_0010496	Orphanet:457240|https://omim.org/entry/300957|UMLS:C0796218	ordo_malformation_syndrome
MONDO:0010499	biolink:Disease	Ritscher-Schinzel syndrome 2	Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene.	DOID:0060572|OMIM:300963|UMLS:C4225419	mondo.json	Ritscher-Schinzel syndrome type 2|RTSC2|CCDC22 Ritscher-Schinzel syndrome|Ritscher-Schinzel syndrome 2, X-linked recessive|Ritscher-Schinzel syndrome 2|Ritscher-Schinzel syndrome caused by mutation in CCDC22	http://purl.obolibrary.org/obo/MONDO_0010499	DOID:0060572|https://omim.org/entry/300963|UMLS:C4225419	
MONDO:0010498	biolink:Disease	MEND syndrome		Orphanet:401973|UMLS:C4085243|OMIM:300960	mondo.json	Male EBP disorder with neurological defects|MEND syndrome, X-linked recessive|MEND|MEND syndrome|Male EBP disorder with neurologic defects	http://purl.obolibrary.org/obo/MONDO_0010498	https://omim.org/entry/300960|Orphanet:401973|UMLS:C4085243	ordo_malformation_syndrome
MONDO:0010491	biolink:Disease	X-linked acrogigantism due to Xq26 microduplication		OMIM:300942|Orphanet:448372|UMLS:C3891556|UMLS:CN237731|SCTID:768472004	mondo.json	chromosome xq26.3 duplication syndrome, X-linked dominant|familial infantile gigantism due to dup(X)q(26)|X-linked acrogigantism|familial infantile gigantism due to Xq26 microduplication|X-LAG (X-linked acrogigantism) due to dup(X)q(26)|chromosome Xq26 microduplication syndrome|chromosome Xq26.3 DUPLICATION syndrome	http://purl.obolibrary.org/obo/MONDO_0010491	https://omim.org/entry/300942|UMLS:C3891556|UMLS:CN237731|http://identifiers.org/snomedct/768472004	ordo_etiological_subtype
GO:0016491	biolink:NamedThing	oxidoreductase activity	Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced.		mondo.json	oxidoreductase activity, acting on other substrates|redox activity	http://purl.obolibrary.org/obo/GO_0016491		
MONDO:0010490	biolink:Disease	SSR4-congenital disorder of glycosylation	A form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4(Xq28).	OMIM:300934|GARD:0012405|DOID:0070257|Orphanet:370927|UMLS:C4012395|SCTID:733115009	mondo.json	CDGIy|SSR4-congenital disorder of glycosylation|congenital disorder of glycosylation type 1y|CDG-Iy|carbohydrate deficient glycoprotein syndrome type Iy|congenital disorder of glycosylation, type Iy, X-linked recessive|CDG1Y|congenital disorder of glycosylation, type Iy|CDG 1Y|CDG syndrome type Iy|congenital disorder of glycosylation type Iy|CDG Iy|SSR4-CDG	http://purl.obolibrary.org/obo/MONDO_0010490	https://omim.org/entry/300934|DOID:0070257|Orphanet:370927|http://identifiers.org/snomedct/733115009|UMLS:C4012395	ordo_disease
MONDO:0034443	biolink:Disease	obsolete genetic non-acquired premature ovarian failure		Orphanet:485382	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034443	Orphanet:485382	
MONDO:0010493	biolink:Disease	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene.	OMIM:300946|UMLS:C4225422	mondo.json	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, X-linked recessive|Diamond-Blackfan anemia 14 with mandibulofacial dysostosis|DBA14|Diamond-Blackfan anemia caused by mutation in TSR2|TSR2 Diamond-Blackfan anemia	http://purl.obolibrary.org/obo/MONDO_0010493	https://omim.org/entry/300946|UMLS:C4225422	
MONDO:0010492	biolink:Disease	pituitary adenoma, growth hormone-secreting, 2	Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene.	OMIM:300943|UMLS:C4012409	mondo.json	pituitary adenoma, Growth hormone-secreting, type 2|acromegaly due to pituitary adenoma 2|pituitary gland adenoma caused by mutation in GPR101|GPR101 pituitary gland adenoma|pituitary adenoma 2, Growth hormone-secreting|pituitary adenoma 2, growth hormone-secreting|acromegaly, X-linked|PAGH2|pituitary adenoma, growth hormone-secreting, 2|PITA2|pituitary adenoma 2, GH-secreting	http://purl.obolibrary.org/obo/MONDO_0010492	https://omim.org/entry/300943|UMLS:C4012409	
MONDO:0009409	biolink:Disease	hypervitaminosis a, susceptibility to		OMIM:240150	mondo.json	hypervitaminosis a, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0009409	https://omim.org/entry/240150	predisposition
MONDO:0009408	biolink:Disease	hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase		OMIM:240000|UMLS:C1855884|MESH:C565489	mondo.json	hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase	http://purl.obolibrary.org/obo/MONDO_0009408	http://identifiers.org/mesh/C565489|https://omim.org/entry/240000|UMLS:C1855884	
MONDO:0009407	biolink:Disease	hypertrophic neuropathy and cataract		UMLS:C1855885|OMIM:239900|MESH:C565490	mondo.json	hypertrophic neuropathy and cataract	http://purl.obolibrary.org/obo/MONDO_0009407	https://omim.org/entry/239900|http://identifiers.org/mesh/C565490|UMLS:C1855885	
MONDO:0009406	biolink:Disease	hypertrichotic osteochondrodysplasia Cantu type	Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.	DOID:0060569|UMLS:C0795905|OMIM:239850|MESH:C535572|SCTID:239087008|Orphanet:1517|GARD:0008585	mondo.json	hypertrichotic osteochondrodysplasia|Cantu syndrome|hypertrichotic osteochondrodysplasia, Cantu type|hypertrichotic osteochondrodysplasia (Cantu syndrome)|Craniofaciocardioskeletal syndrome	http://purl.obolibrary.org/obo/MONDO_0009406	http://identifiers.org/snomedct/239087008|https://omim.org/entry/239850|Orphanet:1517|UMLS:C0795905|http://identifiers.org/mesh/C535572|DOID:0060569	ordo_malformation_syndrome|gard_rare
UBERON:0018261	biolink:AnatomicalEntity	muscular coat of digestive tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018261		
MONDO:0009405	biolink:Disease	cervical hypertrichosis-peripheral neuropathy syndrome	Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993.	UMLS:C2931676|OMIM:239840|GARD:0001226|Orphanet:2218|UMLS:C1855902|MESH:C565492	mondo.json	hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy|cervical hypertrichosis peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0009405	https://omim.org/entry/239840|http://identifiers.org/mesh/C565492|UMLS:C1855902|UMLS:C2931676|Orphanet:2218	ordo_disease|gard_rare
MONDO:0009404	biolink:Disease	hypertelorism, microtia, facial clefting syndrome	Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.	SCTID:721836009|GARD:0000897|DOID:14670|Orphanet:2213|OMIM:239800|UMLS:C0220742|MESH:C537632	mondo.json	hypertelorism microtia facial clefting syndrome|Bixler syndrome|hypertelorism, microtia, facial clefting syndrome|Bixler-Christian-Gorlin syndrome|hypertelorism-microtia-clefting syndrome|hypertelorism-microtia-facial clefting syndrome|HMC syndrome|Bixler Christian Gorlin syndrome	http://purl.obolibrary.org/obo/MONDO_0009404	https://omim.org/entry/239800|http://identifiers.org/mesh/C537632|DOID:14670|UMLS:C0220742|http://identifiers.org/snomedct/721836009|Orphanet:2213	ordo_malformation_syndrome
MONDO:0009403	biolink:Disease	hypertelorism and tetralogy of fallot		OMIM:239711|UMLS:C1855903|MESH:C538386|GARD:0002848	mondo.json	hypertelorism and tetralogy of fallot	http://purl.obolibrary.org/obo/MONDO_0009403	https://omim.org/entry/239711|UMLS:C1855903|http://identifiers.org/mesh/C538386	gard_rare
MONDO:0009402	biolink:Disease	acrofrontofacionasal dysostosis 2	A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.	OMIM:239710|GARD:0000287|MESH:C538332|Orphanet:2211|SCTID:721835008	mondo.json	acrofrontofacionasal dysostosis with genitourinary anomalies|Naguib syndrome|acrofrontofacionasal dysostosis, severe|acrofrontofacionasal dysostosis type 2|acrofrontofacionasal syndrome type 2|acrofrontofacionasal dysostosis 2|AFFN dysostosis 2|hypertelorism hypospadias polysyndactyly syndrome|hypertelorism, hypospadias, and polysyndactyly syndrome|Naguib-Richieri-Costa syndrome|hypertelorism-hypospadias-polysyndactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0009402	https://omim.org/entry/239710|http://identifiers.org/mesh/C538332|http://identifiers.org/snomedct/721835008|Orphanet:2211	ordo_malformation_syndrome
MONDO:0009401	biolink:Disease	hyperprolinemia type 2	Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.	DOID:0080543|MedDRA:10058512|OMIM:239510|UMLS:C2931835|GARD:0006710|MESH:C538385|SCTID:717181004|Orphanet:79101|MedDRA:10058514	mondo.json	ALDH4A1 hyperprolinemia|HPII|1-pyrroline-5-carboxylate dehydrogenase deficiency|hyperprolinemia caused by mutation in ALDH4A1|hyperprolinemia type 2|HYRPRO2|hyperprolinemia, type 2|type 2 hyperprolinemia|1 alpha pyrroline-5-carboxylate dehydrogenase deficiency|hyperprolinemia, type II|delta1-pyrroline-5-carboxylate dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0009401	DOID:0080543|http://identifiers.org/snomedct/717181004|Orphanet:79101|UMLS:C2931835|http://identifiers.org/mesh/C538385|https://omim.org/entry/239510	ordo_disease|gard_rare
MONDO:0009400	biolink:Disease	hyperprolinemia type 1	Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).	DOID:0080542|ICD9:270.8|OMIM:239500|Orphanet:419|SCTID:61071003|MedDRA:10058513	mondo.json	PRODH hyperprolinemia|HPI|hyperprolinemia type 1|HYRPRO1|hyperprolinemia caused by mutation in PRODH|hyperprolinemia, type I|hyperprolinemia, type 1|proline oxidase deficiency	http://purl.obolibrary.org/obo/MONDO_0009400	DOID:0080542|Orphanet:419|http://identifiers.org/snomedct/61071003|https://omim.org/entry/239500	ordo_disease
UBERON:0006289	biolink:AnatomicalEntity	rib pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006289		
HGNC:4573	biolink:NamedThing	GRIA3			mondo.json		http://identifiers.org/hgnc/4573		
UBERON:0006288	biolink:AnatomicalEntity	rib cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006288		
UBERON:0006287	biolink:AnatomicalEntity	radius-ulna pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006287		
UBERON:0006286	biolink:AnatomicalEntity	radius cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006286		
HGNC:4570	biolink:NamedThing	GRHPR			mondo.json		http://identifiers.org/hgnc/4570		
MONDO:0010400	biolink:Disease	X-linked scapuloperoneal muscular dystrophy	X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging.	Orphanet:431272|GARD:0007608|OMIM:300695|UMLS:C2678061	mondo.json	X-linked SPMD|scapuloperoneal myopathy, X-linked dominant|X-linked scapuloperoneal syndrome|SPM|scapuloperoneal myopathy, X-linked dominant, X-linked dominant|scapuloperoneal myopathy, FHL1-related	http://purl.obolibrary.org/obo/MONDO_0010400	https://omim.org/entry/300695|Orphanet:431272|UMLS:C2678061	ordo_disease
UBERON:0006285	biolink:AnatomicalEntity	pubic pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006285		
UBERON:0006284	biolink:AnatomicalEntity	early prosencephalic vesicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006284		
MONDO:0010402	biolink:Disease	syndromic X-linked intellectual disability 94	A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25.	UMLS:C2678051|DOID:0060823|OMIM:300699|MESH:C567479	mondo.json	intellectual disability, X-linked 94|syndromic X-linked intellectual disability type 94|mental retardation, X-linked 94|intellectual disability, X-linked, syndromic, Wu type|MRXSW|syndromic X-linked mental retardation 29|syndromic X-linked intellectual disability due to GRIA3 anomalies|MRX94|intellectual developmental disorder, X-linked, syndromic, Wu type, X-linked recessive|syndromic X-linked intellectual disability 29|syndromic X-linked mental retardation Wu type|syndromic X-linked intellectual disability Wu type|syndromic X-linked intellectual disability 94|mental retardation, X-linked, syndromic 29|intellectual disability, X-linked, syndromic 29|mental retardation, X-linked, syndromic, Wu type|MRXS29	http://purl.obolibrary.org/obo/MONDO_0010402	DOID:0060823|https://omim.org/entry/300699|UMLS:C2678051|http://identifiers.org/mesh/C567479	
UBERON:0006283	biolink:AnatomicalEntity	future cardiac ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006283		
MONDO:0010401	biolink:Disease	X-linked myopathy with postural muscle atrophy	X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.	DOID:0070251|OMIM:300696|Orphanet:178461|UMLS:C2678055	mondo.json	myopathy, X-linked, with postural muscle atrophy|XMPMA|Emery-Dreifuss muscular dystrophy 6, X-linked|Ehlers-Danlos syndrome, classic-like, 1|X-linked myopathy with postural muscle atrophy|myopathy, X-linked, with postural muscle atrophy, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0010401	https://omim.org/entry/300696|UMLS:C2678055|DOID:0070251|Orphanet:178461	ordo_disease
UBERON:0018260	biolink:AnatomicalEntity	layer of muscle tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018260		
HGNC:4576	biolink:NamedThing	GRID2			mondo.json		http://identifiers.org/hgnc/4576		
UBERON:0018256	biolink:AnatomicalEntity	lacrimal vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018256		
UBERON:0018257	biolink:AnatomicalEntity	submucosa of digestive tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018257		
UBERON:0018254	biolink:AnatomicalEntity	skeletal musculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018254		
UBERON:0018255	biolink:AnatomicalEntity	jejunal artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018255		
MONDO:0009419	biolink:Disease	Woodhouse-Sakati syndrome	Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.	MESH:C536742|SCTID:237616002|OMIM:241080|Orphanet:3464|UMLS:C0342286|GARD:0005592|ICD9:759.89	mondo.json	hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities|woodhouse-Sakati syndrome|Woodhouse-Sakati syndrome|woodhouse Sakati syndrome|diabetes-hypogonadism-deafness-intellectual disability syndrome|hypogonadism, diabetes mellitus, alopecia, intellectual disability, and electrocardiographic abnormalities|hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, intellectual disability, and alopecia|hypogonadism, alopecia, diabetes mellitus, intellectual disability, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia	http://purl.obolibrary.org/obo/MONDO_0009419	https://omim.org/entry/241080|http://identifiers.org/snomedct/237616002|UMLS:C0342286|http://identifiers.org/mesh/C536742|Orphanet:3464	gard_rare|ordo_disease
MONDO:0009418	biolink:Disease	hypogonadism with low-grade mental deficiency and microcephaly		OMIM:241000|UMLS:C1855858|MESH:C565482	mondo.json	hypogonadism with low-grade mental deficiency and microcephaly	http://purl.obolibrary.org/obo/MONDO_0009418	https://omim.org/entry/241000|http://identifiers.org/mesh/C565482|UMLS:C1855858	
MONDO:0009417	biolink:Disease	hypergonadotropic hypogonadism-cataract syndrome	This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family.	Orphanet:2410|UMLS:C1855859|GARD:0000298|OMIM:240950|SCTID:721233005|MESH:C543092	mondo.json	hypogonadism-cataract syndrome|cataracts and testicular failure|Lubinsky syndrome|hypogonadism cataract syndrome	http://purl.obolibrary.org/obo/MONDO_0009417	UMLS:C1855859|https://omim.org/entry/240950|http://identifiers.org/mesh/C543092|http://identifiers.org/snomedct/721233005|Orphanet:2410	ordo_malformation_syndrome
UBERON:0018251	biolink:AnatomicalEntity	meningeal vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018251		
MONDO:0009416	biolink:Disease	hypoinsulinemic hypoglycemia and body hemihypertrophy		OMIM:240900|UMLS:CN203155|Orphanet:293964	mondo.json	hypoinsulinemic hypoglycemia with hemihypertrophy|HIHGHH	http://purl.obolibrary.org/obo/MONDO_0009416	https://omim.org/entry/240900|UMLS:CN203155|Orphanet:293964	ordo_disease
MONDO:0009415	biolink:Disease	hypoglycemia, leucine-induced		EFO:0006856|GARD:0009915|OMIM:240800|UMLS:C0271714|SCTID:62151007|MESH:C537150	mondo.json	hypoglycemia, leucine-induced|LIH|hypoglycemia leucine-induced|hypoglycemia of infancy, leucine-sensitive|hypoglycemia leucine induced|leucine-sensitive hypoglycemia of infancy|familial infantile hypoglycemia precipitated by leucine	http://purl.obolibrary.org/obo/MONDO_0009415	https://omim.org/entry/240800|http://identifiers.org/snomedct/62151007|http://identifiers.org/mesh/C537150|UMLS:C0271714	
MONDO:0009414	biolink:Disease	glycogen storage disorder due to hepatic glycogen synthase deficiency	Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.	GARD:0002513|GARD:0002889|MESH:C565485|Orphanet:2089|UMLS:C0342748|OMIM:240600|UMLS:C1855861|SCTID:237964009	mondo.json	GSD type 0a|glycogen storage disease type 0a|liver glycogen storage disease 0|glycogen storage disease type 0|hypoglycemia with deficiency of glycogen synthetase in the liver|glycogen storage disease due to liver glycogen synthase deficiency|liver glycogen storage disease due to glycogen synthase deficiency|glycogen storage disease due to glycogen synthase deficiency of liver|GSD0A|liver glycogen synthase deficiency|hepatic glycogen synthase deficiency|GSD 0A|glycogenosis type 0a|glycogen storage disease type 0, liver|liver GSD 0|GSD due to hepatic glycogen synthase deficiency|glycogen storage disease due to hepatic glycogen synthase deficiency|glycogen storage disease 0, liver|glycogen synthase deficiency	http://purl.obolibrary.org/obo/MONDO_0009414	http://identifiers.org/snomedct/237964009|http://identifiers.org/mesh/C565485|UMLS:C0342748|UMLS:C1855861|https://omim.org/entry/240600|Orphanet:2089	ordo_disease
NCBITaxon:28450	biolink:OrganismalEntity	Burkholderia pseudomallei		GC_ID:11|PMID:12734250|PMID:1283774	mondo.json	Bacterium whitmori|Malleomyces pseudomallei|Pseudomonas pseudomallei|Bacillus pseudomallei|Loefflerella pseudomallei	http://purl.obolibrary.org/obo/NCBITaxon_28450		
MONDO:0009413	biolink:Disease	immunodeficiency, common variable, 2		UMLS:C3150354|OMIM:240500	mondo.json	hypogammaglobulinemia due to TACI deficiency|antibody deficiency due to TACI defect|immunodeficiency, common variable, type 2|immunodeficiency, common variable, 2|CVID2	http://purl.obolibrary.org/obo/MONDO_0009413	UMLS:C3150354|https://omim.org/entry/240500	
MONDO:0009412	biolink:Disease	scurvy	A condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur.	MedDRA:10039768|OMIM:240400|ICD9:267|MedDRA:10047623|NCIT:C35010|DOID:13577|EFO:1000822|ICD10CM:E54|GARD:0010406|MESH:D001206|DOID:13724|MESH:D012614|UMLS:C0036474|EFO:1001169|SCTID:76169001	mondo.json	L-gulonolactone oxidase, nonfunctional|ascorbic acid deficiency|hypoascorbemia|scorbutus|Gulo, nonfunctional|vitamin C, inability to synthesize|deficiency of vitamin C|vitamin C deficiency|L-gulonolactone oxidase pseudogene|scurvy	http://purl.obolibrary.org/obo/MONDO_0009412	http://purl.bioontology.org/ontology/ICD10CM/E54|http://identifiers.org/mesh/D012614|UMLS:C0036474|https://omim.org/entry/240400|DOID:13724|http://identifiers.org/snomedct/76169001|NCIT:C35010|http://identifiers.org/mesh/D001206	gard_rare
MONDO:0009411	biolink:Disease	autoimmune polyendocrine syndrome type 1	Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.	GARD:0005558|Orphanet:3453|DOID:0050167|SCTID:11244009|ICD9:258.8|GARD:0008466|UMLS:C0085859|OMIM:240300|NCIT:C129727	mondo.json	autoimmune polyendocrinopathy syndrome type 1|autoimmune polyglandular syndrome, type 1|autoimmune polyendocrinopathy type 1|autoimmune polyendocrine syndrome type 1|ham syndrome|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy|polyglandular autoimmune syndrome, type 1|hypoadrenocorticism with hypoparathyroidism and superficial Moniliasis|autoimmune polyendocrinopathy caused by mutation in AIRE|autoimmune polyendocrinopathy caused by mutation in aire|PGA 1|autoimmune polyglandular syndrome type 1|autoimmune polyglandular syndrome I|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)|autoimmune polyendocrinopathy syndrome, type I, autosomal dominant|APS type 1|hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|Whitaker syndrom|APECED syndrome|autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome|APS 1|Whitaker syndrome|AIRE autoimmune polyendocrinopathy|autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia|multiple endocrine deficiency-Addison disease-candidiasis syndrome|MEDAC syndrome|polyglandular autoimmune syndrome type 1|aire autoimmune polyendocrinopathy|autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia|polyglandular deficiency syndrome, Persian-Jewish type|APS1	http://purl.obolibrary.org/obo/MONDO_0009411	NCIT:C129727|https://omim.org/entry/240300|Orphanet:3453|http://identifiers.org/snomedct/11244009|UMLS:C0085859|DOID:0050167	ordo_disease|gard_rare
MONDO:0009410	biolink:Disease	obsolete Addison disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009410		
CHEBI:77182	biolink:ChemicalSubstance	food colouring	A food additive that imparts colour to food. In European countries, E-numbers for permitted food colours are from E 100 to E 199, divided into yellows (E 100-109), oranges (E 110-119), reds (E 120-129), blues and violets (E 130-139), greens (E 140-149), browns and blacks (E 150-159), and others (E 160-199).		mondo.json	food colorings|food coloring|food colourings	http://purl.obolibrary.org/obo/CHEBI_77182		
HGNC:4584	biolink:NamedThing	GRIN1			mondo.json		http://identifiers.org/hgnc/4584		
NCBITaxon:53436	biolink:OrganismalEntity	Treponema pallidum subsp. endemicum		GC_ID:11	mondo.json	Treponema pallidum endemicum	http://purl.obolibrary.org/obo/NCBITaxon_53436		
HGNC:4580	biolink:NamedThing	GRIK2			mondo.json		http://identifiers.org/hgnc/4580		
UBERON:0006273	biolink:AnatomicalEntity	otic pit			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006273		
UBERON:0006272	biolink:AnatomicalEntity	oronasal cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006272		
UBERON:0006271	biolink:AnatomicalEntity	orbital fissure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006271		
HGNC:4588	biolink:NamedThing	GRIN2D			mondo.json		http://identifiers.org/hgnc/4588		
HGNC:4586	biolink:NamedThing	GRIN2B			mondo.json		http://identifiers.org/hgnc/4586		
UBERON:0006279	biolink:AnatomicalEntity	pleuroperitoneal canal			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006279		
HGNC:4585	biolink:NamedThing	GRIN2A			mondo.json		http://identifiers.org/hgnc/4585		
UBERON:0018246	biolink:AnatomicalEntity	thyroid vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018246		
NCBITaxon:186817	biolink:OrganismalEntity	Bacillaceae		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_186817		
UBERON:0018243	biolink:AnatomicalEntity	thymic artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018243		
UBERON:0018247	biolink:AnatomicalEntity	cervical thymic artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018247		
UBERON:0006267	biolink:AnatomicalEntity	notochordal plate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006267		
UBERON:0006266	biolink:AnatomicalEntity	nasolacrimal groove			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006266		
HGNC:4593	biolink:NamedThing	GRM1			mondo.json		http://identifiers.org/hgnc/4593		
UBERON:0006264	biolink:AnatomicalEntity	mouth-foregut junction			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006264		
UBERON:0006261	biolink:AnatomicalEntity	male genital tubercle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006261		
UBERON:0006260	biolink:AnatomicalEntity	lingual swellings			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006260		
CHEBI:16234	biolink:ChemicalSubstance	hydroxide			mondo.json	hydridooxygenate(1-)|hydroxide|HO-|OH-|oxidanide|OH(-)|HYDROXIDE ION|Hydroxide ion	http://purl.obolibrary.org/obo/CHEBI_16234		
HGNC:4598	biolink:NamedThing	GRM6			mondo.json		http://identifiers.org/hgnc/4598		
UBERON:0006268	biolink:AnatomicalEntity	notochordal process			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006268		
UBERON:0018234	biolink:AnatomicalEntity	stroma of pancreas			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018234		
UBERON:0018235	biolink:AnatomicalEntity	capsule of pancreas			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018235		
UBERON:0018232	biolink:AnatomicalEntity	axillary sweat gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018232		
UBERON:0018239	biolink:AnatomicalEntity	rhombomere boundary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018239		
UBERON:0006256	biolink:AnatomicalEntity	knee joint primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006256		
UBERON:0006255	biolink:AnatomicalEntity	ischial pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006255		
UBERON:0006254	biolink:AnatomicalEntity	ischial cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006254		
NCBITaxon:186801	biolink:OrganismalEntity	Clostridia		PMID:32955149|GC_ID:11|PMID:31076745|PMID:26410691	mondo.json	Natranaerobiia	http://purl.obolibrary.org/obo/NCBITaxon_186801		
NCBITaxon:186804	biolink:OrganismalEntity	Peptostreptococcaceae		GC_ID:11	mondo.json	Clostridium cluster XI	http://purl.obolibrary.org/obo/NCBITaxon_186804		
NCBITaxon:186802	biolink:OrganismalEntity	Eubacteriales		GC_ID:11|PMID:24480908	mondo.json	Clostridiales	http://purl.obolibrary.org/obo/NCBITaxon_186802		
IAO:0000428	biolink:NamedThing	requires discussion	A term that is metadata complete, has been reviewed, and problems have been identified that require discussion before release. Such a term requires editor note(s) to identify the outstanding issues.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000428		
MONDO:0022423	biolink:Disease	obsolete alpha-2 deficient collagen disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022423		
IAO:0000426	biolink:NamedThing	first order logic expression			mondo.json		http://purl.obolibrary.org/obo/IAO_0000426		
MONDO:0022424	biolink:Disease	alpha-mannosidosis type 1		UMLS:C2931251|MESH:C536584	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022424	http://identifiers.org/mesh/C536584|UMLS:C2931251	
MONDO:0009449	biolink:Disease	ciliary dyskinesia with defective radial spokes		UMLS:C0340035|GARD:0002981|MESH:C536286|ICD9:759.89|SCTID:233664005|OMIM:242670	mondo.json	immotile cilia syndrome due to defective radial spokes|ciliary dyskinesia with defective radial spokes|immotile cilia syndrome, due to defective radial spokes|cilia with defective radial spokes	http://purl.obolibrary.org/obo/MONDO_0009449	UMLS:C0340035|http://identifiers.org/snomedct/233664005|https://omim.org/entry/242670|http://identifiers.org/mesh/C536286	
MONDO:0022425	biolink:Disease	alpha-thalassemia-abnormal morphogenesis		GARD:0000362	mondo.json	homozygous alpha-thalassemia, genital abnormalities, and terminal transverse limb defects|Abuelo Forman Rubin syndrome	http://purl.obolibrary.org/obo/MONDO_0022425		gard_rare
IAO:0000427	biolink:NamedThing	antisymmetric property	Use boolean value xsd:true to indicate that the property is an antisymmetric property		mondo.json		http://purl.obolibrary.org/obo/IAO_0000427		
MONDO:0009448	biolink:Disease	iminoglycinuria	A metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait.	GARD:0008424|OMIM:242600|SCTID:84121007|Orphanet:42062|MESH:C536285|ICD9:270.8|UMLS:C0268654	mondo.json	iminoglycinuria, digenic|iminoglycinuria	http://purl.obolibrary.org/obo/MONDO_0009448	http://identifiers.org/snomedct/84121007|UMLS:C0268654|http://identifiers.org/mesh/C536285|https://omim.org/entry/242600|Orphanet:42062	gard_rare|ordo_disease
MONDO:0010437	biolink:Disease	severe X-linked mitochondrial encephalomyopathy	Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.	SCTID:722212004|Orphanet:238329|OMIM:300816|DOID:0111502|UMLS:C4302745|UMLS:C3151753	mondo.json	mitochondrial encephalomyopathy due to COXPD6|combined oxidative phosphorylation deficiency 6|encephalomyopathy, mitochondrial, X-linked|combined oxidative phosphorylation deficiency 6, X-linked recessive|mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6|combined oxidative phosphorylation deficiency type 6|COXPD6	http://purl.obolibrary.org/obo/MONDO_0010437	Orphanet:238329|UMLS:C3151753|DOID:0111502|http://identifiers.org/snomedct/722212004|UMLS:C4302745|https://omim.org/entry/300816	ordo_disease
MONDO:0009447	biolink:Disease	ichthyosis, split hairs, and amino aciduria		MESH:C565471|UMLS:C1855786|OMIM:242550	mondo.json	ichthyosis, split hairs, and amino aciduria	http://purl.obolibrary.org/obo/MONDO_0009447	UMLS:C1855786|https://omim.org/entry/242550|http://identifiers.org/mesh/C565471	
MONDO:0010436	biolink:Disease	chromosome Xq28 duplication syndrome		MESH:C567580|UMLS:C2749007|OMIM:300815	mondo.json	chromosome Xq28 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0010436	http://identifiers.org/mesh/C567580|UMLS:C2749007|https://omim.org/entry/300815	
MONDO:0010439	biolink:Disease	cardiomyopathy, fatal fetal, due to myocardial calcification		GARD:0008311|OMIM:606163|OMIM:300829|UMLS:C1853577|MESH:C543241	mondo.json	cardiomyopathy, fatal fetal, due to myocardial calcification|myocardial calcifications resulting in intrauterine fetal death	http://purl.obolibrary.org/obo/MONDO_0010439	https://omim.org/entry/300829|http://identifiers.org/mesh/C543241|UMLS:C1853577	gard_rare
MONDO:0009446	biolink:Disease	ichthyosis-intellectual disability-dwarfism-renal impairment syndrome	Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.	GARD:0004641|MESH:C536274|OMIM:242530|Orphanet:2278|UMLS:C1855787	mondo.json	Passwell-Goodman-Siprkowski syndrome|ichthyosis intellectual deficit dwarfism renal impairment|ichthyosis, intellectual disability, dwarfism and renal impairment|ichthyosis, mental retardation, dwarfism, and renal impairment|ichthyosis, intellectual disability, dwarfism, and renal impairment|ichthyosis, mental retardation, dwarfism and renal impairment	http://purl.obolibrary.org/obo/MONDO_0009446	Orphanet:2278|http://identifiers.org/mesh/C536274|https://omim.org/entry/242530|UMLS:C1855787	ordo_malformation_syndrome
MONDO:0010438	biolink:Disease	paroxysmal nocturnal hemoglobinuria 1	Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene.	UMLS:C3806670|OMIM:300818	mondo.json	paroxysmal nocturnal hemoglobinuria caused by mutation in PIGA|paroxysmal nocturnal hemoglobinuria caused by mutation in pIgA|PIGA paroxysmal nocturnal hemoglobinuria|pIgA paroxysmal nocturnal hemoglobinuria|paroxysmal nocturnal hemoglobinuria, somatic|PNH1|paroxysmal nocturnal hemoglobinuria 1|paroxysmal nocturnal hemoglobinuria type 1	http://purl.obolibrary.org/obo/MONDO_0010438	UMLS:C3806670|https://omim.org/entry/300818	
MONDO:0009445	biolink:Disease	ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome	Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.	OMIM:242520|SCTID:403779009|MESH:C535727|ICD9:571.8|UMLS:C1275088|Orphanet:2274|GARD:0001993	mondo.json	Dykes-Markes-Harper syndrome|Dykes-Marks-Harper syndrome|Dykes Markes Harper syndrome|ichthyosis, hepatosplenomegaly, and cerebellar degeneration	http://purl.obolibrary.org/obo/MONDO_0009445	http://identifiers.org/mesh/C535727|UMLS:C1275088|Orphanet:2274|http://identifiers.org/snomedct/403779009|https://omim.org/entry/242520	ordo_disease
MONDO:0009444	biolink:Disease	ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome	Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.	MESH:C537364|GARD:0000292|OMIM:242510|Orphanet:2269|UMLS:C1855788	mondo.json	Jagell-Holmgren-Hofer syndrome|ichthyosis alopecia eclabion ectropion mental retardation|ichthyosis alopecia eclabion ectropion intellectual disability|ichthyosis with alopecia, eclabium, ectropion, and intellectual disability|Jagell Holmgren Hofer syndrome|ichthyosis with alopecia, eclabium, ectropion, and mental retardation	http://purl.obolibrary.org/obo/MONDO_0009444	Orphanet:2269|http://identifiers.org/mesh/C537364|https://omim.org/entry/242510|UMLS:C1855788	ordo_disease
MONDO:0009443	biolink:Disease	autosomal recessive congenital ichthyosis 4B	Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.	Orphanet:457|DOID:0060713|MedDRA:10019163|SCTID:205548006|OMIM:242500|GARD:0006568|UMLS:C0239849|NCIT:C98934	mondo.json	ARCI4B|ichthyosis, congenital, autosomal recessive 4B|Harlequin fetus|harlequin type ichthyosis fetalis|harlequin type ichthyosis congenita|ichthyosis fetalis, Harlequin type|harlequin ichthyosis|hi|ichthyosis , congenital, autosomal recessive 4b (harlequin)|'Harlequin fetus'|ichthyosis congenita, Harlequin type|autosomal recessive congenital ichthyosis type 4B|ichthyosis, congenital, autosomal recessive type 4B|ichthyosis congenita, Harlequin fetus type	http://purl.obolibrary.org/obo/MONDO_0009443	DOID:0060713|NCIT:C98934|UMLS:C0239849|https://omim.org/entry/242500|Orphanet:457|http://identifiers.org/snomedct/205548006	ordo_disease
MONDO:0009442	biolink:Disease	ichthyosis congenita with biliary atresia		GARD:0002948|SCTID:235916001|MESH:C562886|OMIM:242400	mondo.json	ichthyosis congenita with biliary atresia|ichthyosis congenita biliary atresia|congenital ichthyosis with biliary atresia	http://purl.obolibrary.org/obo/MONDO_0009442	http://identifiers.org/mesh/C562886|https://omim.org/entry/242400|http://identifiers.org/snomedct/235916001	gard_rare
MONDO:0009441	biolink:Disease	autosomal recessive congenital ichthyosis 1	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene.	Orphanet:281122|MESH:D017490|UMLS:C3536797|GARD:0003170|DOID:0060656|Orphanet:313|Orphanet:100976|OMIM:242300	mondo.json	ichthyosis, lamellar, 1, formerly|lamellar ichthyosis, type 1|lamellar exfoliation of newborn|ichthyosis, lamellar, 1|ichthyosis, congenital, autosomal recessive type 1|bathing suit ichthyosis|autosomal recessive congenital ichthyosis type 1|LI1|ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution|autosomal recessive congenital ichthyosis 1|ichthyosis congenita 2|ichthyosis congenita|desquamation of newborn|collodion baby, self-healing|ichthyosis lamellar 1|collodion fetus|ichthyosis, congenital, autosomal recessive 1|ARCI1	http://purl.obolibrary.org/obo/MONDO_0009441	DOID:0060656|http://identifiers.org/mesh/D017490|UMLS:C3536797|https://omim.org/entry/242300	gard_rare
MONDO:0010440	biolink:Disease	autism, susceptibility to, X-linked 4		GARD:0003775|OMIM:300830	mondo.json	autism, susceptibility to, X-linked 4|autism, susceptibility to, X-linked type 4|susceptibility to autism, X-linked|susceptibility to X-linked autism 4|AUTSX4|autism, susceptibility to, X-linked 4, X-linked recessive|chromosome Xp22 deletion syndrome|X-linked susceptibility to autism-4	http://purl.obolibrary.org/obo/MONDO_0010440	https://omim.org/entry/300830	gard_rare|predisposition
MONDO:0009440	biolink:Disease	ichthyosiform erythroderma, corneal involvement, and hearing loss		MESH:C537363|GARD:0002946|OMIM:242150|SCTID:403780007|UMLS:C1275089	mondo.json	ichthyosiform erythroderma, corneal involvement, and deafness|Desmons syndrome|keratitis-ichthyosis-deafness syndrome, autosomal recessive|ichthyosiform erythroderma, corneal involvement, deafness|KID syndrome, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009440	https://omim.org/entry/242150|http://identifiers.org/mesh/C537363|http://identifiers.org/snomedct/403780007|UMLS:C1275089	
MONDO:0010442	biolink:Disease	46,XX sex reversal 3		UMLS:C3151782|DOID:0111762|OMIM:300833	mondo.json	SRXX3|46,XX SEX reversal 3|46,XX sex reversal 3|chromosome Xq26 Duplication syndrome|46XX sex reversal 3, X-linked dominant|chromosome Xq26 deletion syndrome|46,XX Sex reversal type 3|46,XX Sex reversal, Sox3-related	http://purl.obolibrary.org/obo/MONDO_0010442	UMLS:C3151782|DOID:0111762|https://omim.org/entry/300833	
MONDO:0010441	biolink:Disease	CK syndrome		Orphanet:251383|UMLS:C3151781|OMIM:300831	mondo.json	mental retardation, X-linked, with thin body habitus and cortical malformation|intellectual disability, X-linked, with thin body habitus and cortical malformation|CK syndrome, X-linked recessive|CK syndrome|X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome	http://purl.obolibrary.org/obo/MONDO_0010441	UMLS:C3151781|Orphanet:251383|https://omim.org/entry/300831	ordo_malformation_syndrome
MONDO:0010444	biolink:Disease	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia		OMIM:300835|Orphanet:363727	mondo.json	XLANP|anemia, X-linked, with/without neutropenia and/or platelet abnormalities, X-linked recessive|anemia, X-linked, with or without neutropenia and/or platelet abnormalities	http://purl.obolibrary.org/obo/MONDO_0010444	Orphanet:363727|https://omim.org/entry/300835	ordo_disease
MONDO:0010443	biolink:Disease	macular degeneration, X-linked atrophic		UMLS:C3151784|OMIM:300834	mondo.json	macular degeneration, X-linked atrophic|macular degeneration, X-linked atrophic, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0010443	UMLS:C3151784|https://omim.org/entry/300834	
MONDO:0010446	biolink:Disease	X-linked cone dysfunction syndrome with myopia	X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.	Orphanet:90001|UMLS:C3159311|SCTID:718718009|MESH:C564092|OMIM:300843	mondo.json	myopia, high, with nonprogressive cone dysfunction|bed|BORNHOLM eye disease|Bornholm eye disease|Bornholm eye disease, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0010446	Orphanet:90001|UMLS:C3159311|http://identifiers.org/mesh/C564092|https://omim.org/entry/300843|http://identifiers.org/snomedct/718718009	ordo_disease
MONDO:0010445	biolink:Disease	obsolete McLeod syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010445		
GO:0090407	biolink:NamedThing	organophosphate biosynthetic process	The chemical reactions and pathways resulting in the biosynthesis of deoxyribose phosphate, the phosphorylated sugar 2-deoxy-erythro-pentose.		mondo.json		http://purl.obolibrary.org/obo/GO_0090407		
MONDO:0022417	biolink:Disease	alopecia congenita keratosis palmoplantaris		MESH:C537050	mondo.json	alopecia congenita with keratosis palmoplantaris|alopecia congenita with hyperkeratosis of the palms and soles	http://purl.obolibrary.org/obo/MONDO_0022417	http://identifiers.org/mesh/C537050	
MONDO:0022418	biolink:Disease	obsolete alopecia immunodeficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022418		
MONDO:0022410	biolink:Disease	retinal ciliopathy		Orphanet:156165	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022410	Orphanet:156165	ordo_group_of_disorders|disease_grouping
MONDO:0022412	biolink:Disease	obsolete albinism immunodeficiency		GARD:0000590	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022412		gard_rare
MONDO:0022413	biolink:Disease	Albright-like syndrome		GARD:0000596	mondo.json	Albright like syndrome	http://purl.obolibrary.org/obo/MONDO_0022413		gard_rare
MONDO:0022414	biolink:Disease	allain-babin-demarquez syndrome		GARD:0000124|Orphanet:1526	mondo.json	acro cephalo synostosis|craniosynostosis synostoses hypertensive nephropathy	http://purl.obolibrary.org/obo/MONDO_0022414	Orphanet:1526	gard_rare
MONDO:0010426	biolink:Disease	X-linked endothelial corneal dystrophy	X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.	Orphanet:293621|MESH:C567587|DOID:0060446|SCTID:718579008|OMIM:300779|UMLS:C2749049	mondo.json	corneal dystrophy, endothelial, X-linked, X-linked dominant|corneal dystrophy, endothelial, X-linked|XECD|endothelial corneal dystrophy, X-linked	http://purl.obolibrary.org/obo/MONDO_0010426	https://omim.org/entry/300779|Orphanet:293621|http://identifiers.org/snomedct/718579008|UMLS:C2749049|http://identifiers.org/mesh/C567587|DOID:0060446	ordo_disease
MONDO:0009459	biolink:Disease	channelopathy-associated congenital insensitivity to pain, autosomal recessive	A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)	Orphanet:88642|OMIM:243000|UMLS:C1855739|GARD:0012267	mondo.json	insensitivity to pain, congenital|insensitivity to pain, channelopathy-associated|congenital analgesia, autosomal recessive|indifference to pain, congenital, autosomal recessive|neuropathy, hereditary sensory and autonomic, type 2D|channelopathy-associated CIP|HSAN2D|HSAN2D, AR|neuropathy, hereditary sensory and autonomic, type IID|CIP|asymbolia for pain	http://purl.obolibrary.org/obo/MONDO_0009459	https://omim.org/entry/243000|Orphanet:88642|UMLS:C1855739	ordo_disease
MONDO:0009458	biolink:Disease	Schimke immuno-osseous dysplasia	A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.	UMLS:C0877024|Orphanet:1830|DOID:0060490|OMIM:242900|SCTID:723995003|NCIT:C135087|MESH:C536629|MedDRA:10048699|GARD:0004984	mondo.json	SIOD|immunoosseous dysplasia Schimke type|Schimke immunoosseous dysplasia|Schimke immuno-osseous dysplasia|IMMUNOOSSEOUS dysplasia, Schimke type|spondyloepiphyseal dysplasia nephrotic syndrome|Schimke IMMUNOOSSEOUS dysplasia|Schimke Immunoosseous dysplasia|spondyloepiphyseal dysplasia-nephrotic syndrome|spondyloepiphyseal dysplasia - nephrotic syndrome|Schimke syndrome	http://purl.obolibrary.org/obo/MONDO_0009458	UMLS:C0877024|DOID:0060490|NCIT:C135087|https://omim.org/entry/242900|http://identifiers.org/snomedct/723995003|Orphanet:1830|http://identifiers.org/mesh/C536629	clingen|ordo_disease
MONDO:0010425	biolink:Disease	Lisch epithelial corneal dystrophy	Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision.	OMIM:300778|UMLS:C2749050|MESH:C567588|SCTID:724175002|DOID:0060450|Orphanet:98955	mondo.json	corneal dystrophy, Lisch epithelial, X-linked dominant|corneal dystrophy, Lisch epithelial|band-Shaped and whorled microcystic corneal epithelial dystrophy|LECD|band-shaped and whorled microcystic|band-shaped and whorled microcystic dystrophy of the corneal epithelium|Lisch epithelial corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0010425	http://identifiers.org/snomedct/724175002|https://omim.org/entry/300778|http://identifiers.org/mesh/C567588|UMLS:C2749050|Orphanet:98955|DOID:0060450	ordo_disease
MONDO:0010428	biolink:Disease	chromosome Xp11.23-p11.22 duplication syndrome	A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.	DECIPHER:89|OMIM:300801|GARD:0012766|Orphanet:217377|MESH:C567585|SCTID:721881008|DOID:0060461	mondo.json	Xp11.22-p11.23 Microduplication|microduplication Xp11.22-p11.23 syndrome|trisomy Xp11.22-p11.23|chromosome xp11.23-p11.22 duplication syndrome, X-linked dominant|chromosome Xp11.23-p11.22 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0010428	Orphanet:217377|https://omim.org/entry/300801|http://identifiers.org/snomedct/721881008|http://identifiers.org/mesh/C567585|DOID:0060461	ordo_malformation_syndrome
MONDO:0009457	biolink:Disease	immunoglobulin d level in plasma, low		OMIM:242890	mondo.json	IMMUNOGLOBULIN D level in plasma, LOW	http://purl.obolibrary.org/obo/MONDO_0009457	https://omim.org/entry/242890	
MONDO:0009456	biolink:Disease	Immunoerythromyeloid hypoplasia		OMIM:242880|UMLS:CN074232	mondo.json	Immunoerythromyeloid hypoplasia	http://purl.obolibrary.org/obo/MONDO_0009456	UMLS:CN074232|https://omim.org/entry/242880	
MONDO:0010427	biolink:Disease	syndromic X-linked intellectual disability Raymond type	A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has material basis in mutation in the ZDHHC9 gene on chromosome Xq26.1.	DOID:0060824|UMLS:C3275406|OMIM:300799	mondo.json	mental retardation, X-linked, syndromic, Raymond type|MRXSR|intellectual disability, X-linked, syndromic, Raymond type|mental retardation, X-linked syndromic, Raymond type|intellectual disability, X-linked syndromic, Raymond type|syndromic X-linked intellectual disability Raymond type	http://purl.obolibrary.org/obo/MONDO_0010427	DOID:0060824|https://omim.org/entry/300799|UMLS:C3275406	
MONDO:0009455	biolink:Disease	immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes		OMIM:242870|UMLS:C1855762|MESH:C565468	mondo.json	immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes	http://purl.obolibrary.org/obo/MONDO_0009455	http://identifiers.org/mesh/C565468|https://omim.org/entry/242870|UMLS:C1855762	
MONDO:0009454	biolink:Disease	immunodeficiency-centromeric instability-facial anomalies syndrome 1	Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene.	DOID:0090008|NCIT:C156430|OMIM:242860	mondo.json	centromeric instability, immunodeficiency syndrome|immunodeficiency-centromeric instability-facial anomalies syndrome 1|immunodeficiency-centromeric instability-facial anomalies syndrome type 1|immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in DNMT3B|immunodeficiency-centromeric instability-Facial anomalies syndrome type 1|ICF1|DNMT3B immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ICF syndrome 1	http://purl.obolibrary.org/obo/MONDO_0009454	https://omim.org/entry/242860|DOID:0090008|NCIT:C156430	
MONDO:0010429	biolink:Disease	intellectual disability, X-linked 96	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the SYP gene.	OMIM:300802|UMLS:C3275408	mondo.json	intellectual disability, X-linked type 96|MRX96|mental retardation, X-linked 96|mental retardation, X-linked type 96|SYP non-syndromic X-linked intellectual disability|non-syndromic X-linked intellectual disability caused by mutation in SYP|intellectual developmental disorder, X-linked 96, X-linked recessive|intellectual disability, X-linked 96	http://purl.obolibrary.org/obo/MONDO_0010429	https://omim.org/entry/300802|UMLS:C3275408	
MONDO:0009453	biolink:Disease	immune deficiency disease		OMIM:242850|MESH:C565469|UMLS:C1855771	mondo.json	immune deficiency disease	http://purl.obolibrary.org/obo/MONDO_0009453	http://identifiers.org/mesh/C565469|https://omim.org/entry/242850|UMLS:C1855771	
MONDO:0009452	biolink:Disease	Vici syndrome	A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.	UMLS:C1855772|SCTID:719824001|MESH:C535566|GARD:0000448|DOID:0060356|Orphanet:1493|NCIT:C138174|OMIM:242840	mondo.json	Vici syndrome|immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|VICIS|Dionisi Vici Sabetta Gambarara syndrome|immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|Dionisi-Vici-Sabetta-Gambarara syndrome|immunodeficiency with cleft Lip/palate, cataract, hypopigmentation, and absent corpus callosum|absent corpus callosum-cataract-immunodeficiency syndrome|absent corpus callosum cataract immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0009452	http://identifiers.org/snomedct/719824001|Orphanet:1493|https://omim.org/entry/242840|UMLS:C1855772|http://identifiers.org/mesh/C535566|DOID:0060356|NCIT:C138174	ordo_malformation_syndrome|gard_rare
MONDO:0009451	biolink:Disease	Nezelof syndrome		GARD:0007201|UMLS:CN206066|ICD9:279.13|SCTID:55602000|MESH:C536288|DOID:2012|Orphanet:83471|OMIM:242700	mondo.json	thymic aplasia|Nezelof's syndrome|immune defect due to absence of THYMUS|immune defect due to absence Of Thymus|T-lymphocyte deficiency|Nezelof syndrome	http://purl.obolibrary.org/obo/MONDO_0009451	http://identifiers.org/snomedct/55602000|http://identifiers.org/mesh/C536288|https://omim.org/entry/242700|UMLS:CN206066|DOID:2012|Orphanet:83471	ordo_disease
MONDO:0009450	biolink:Disease	ciliary dyskinesia with excessively long cilia		ICD9:759.89|SCTID:233665006|OMIM:242680|GARD:0002982|MESH:C536287	mondo.json	ciliary dyskinesia with excessively long cilia|immotile cilia syndrome due to excessively long cilia	http://purl.obolibrary.org/obo/MONDO_0009450	https://omim.org/entry/242680|http://identifiers.org/mesh/C536287|http://identifiers.org/snomedct/233665006	gard_rare
MONDO:0010431	biolink:Disease	Joubert syndrome 10	Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene.	UMLS:C2749019|OMIM:300804|MESH:C567582|DOID:0110981	mondo.json	OFD1 Joubert syndrome|JBTS10|Joubert syndrome 10, X-linked recessive|Joubert syndrome caused by mutation in OFD1|Joubert syndrome 10|Joubert syndrome type 10	http://purl.obolibrary.org/obo/MONDO_0010431	UMLS:C2749019|http://identifiers.org/mesh/C567582|DOID:0110981|https://omim.org/entry/300804	
MONDO:0010430	biolink:Disease	intellectual disability, X-linked 97	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF711 gene.	UMLS:C2749020|OMIM:300803|MESH:C567583	mondo.json	mental retardation, X-linked 97|Mrxz|ZNF711 non-syndromic X-linked intellectual disability|mental retardation, X-linked type 97|non-syndromic X-linked intellectual disability caused by mutation in ZNF711|intellectual disability, X-linked 65|intellectual disability, X-linked 97|intellectual developmental disorder, X-linked 97|mental retardation, X-linked 65|intellectual disability, X-linked type 97|MRX97	http://purl.obolibrary.org/obo/MONDO_0010430	http://identifiers.org/mesh/C567583|UMLS:C2749020|https://omim.org/entry/300803	
MONDO:0010433	biolink:Disease	systemic lupus erythematosus, susceptibility to, 15		OMIM:300809	mondo.json	SLEB15|systemic lupus erythematosus, susceptibility to, 15	http://purl.obolibrary.org/obo/MONDO_0010433	https://omim.org/entry/300809	predisposition
MONDO:0010432	biolink:Disease	thrombophilia, X-linked, due to factor 9 defect	A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9).	OMIM:300807|MESH:C567581|UMLS:C2749016	mondo.json	thrombophilia, X-linked, due to factor 9 defect|THPH8|deep venous thrombosis, protection against, X-linked recessive|thrombophilia 8, X-linked, due to factor IX defect, X-linked recessive|thrombophilia, X-linked, due to factor IX defect|deep Venous thrombosis, protection against	http://purl.obolibrary.org/obo/MONDO_0010432	http://identifiers.org/mesh/C567581|UMLS:C2749016|https://omim.org/entry/300807	
MONDO:0010435	biolink:Disease	nystagmus 6, congenital, X-linked		OMIM:300814|UMLS:C3151752	mondo.json	nystagmus 6, congenital, X-linked, X-linked recessive|NYSTAGMUS 6, congenital, X-linked|nystagmus 6, congenital, X-linked|NYS6	http://purl.obolibrary.org/obo/MONDO_0010435	UMLS:C3151752|https://omim.org/entry/300814	
MONDO:0010434	biolink:Disease	synovial sarcoma	Synovial sarcoma is an aggressive soft tissue sarcoma, occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name).	ONCOTREE:SYNS|HP:0012570|MedDRA:10042863|ICDO:9040/3|OMIM:300813|ICD9:171.9|NCIT:C3400|EFO:0001376|UMLS:C0039101|DOID:5485|SCTID:302851001|GARD:0007721|MESH:D013584|Orphanet:3273	mondo.json	sarcoma, synovial, malignant|synovial sarcoma|synovial sarcoma (disease)|Synovialosarcoma|sarcoma, synovial|SS	http://purl.obolibrary.org/obo/MONDO_0010434	Orphanet:3273|NCIT:C3400|UMLS:C0039101|DOID:5485|http://identifiers.org/mesh/D013584|http://identifiers.org/snomedct/302851001|https://omim.org/entry/300813	ordo_disease
MONDO:0022404	biolink:Disease	retinal ciliopathy due to mutation in Usher gene		Orphanet:156177	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022404	Orphanet:156177	ordo_group_of_disorders|disease_grouping
MONDO:0022405	biolink:Disease	retinal ciliopathy due to mutation in nephronophthisis gene		Orphanet:156180	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022405	Orphanet:156180	ordo_group_of_disorders|disease_grouping
NCBITaxon:186820	biolink:OrganismalEntity	Listeriaceae		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_186820		
MONDO:0022406	biolink:Disease	obsolete aksu von stockhausen syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022406		
MONDO:0022407	biolink:Disease	retinal ciliopathy due to mutation in Bardet-Biedl gene		Orphanet:156183	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022407	Orphanet:156183	ordo_group_of_disorders|disease_grouping
NCBITaxon:186826	biolink:OrganismalEntity	Lactobacillales		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_186826		
MONDO:0022409	biolink:Disease	nephropathy-associated ciliopathy		Orphanet:156162	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022409	Orphanet:156162	ordo_group_of_disorders|disease_grouping
MONDO:0022400	biolink:Disease	retinal ciliopathy due to mutation in the RPGRIP gene		Orphanet:156174	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022400	Orphanet:156174	ordo_group_of_disorders|disease_grouping
MONDO:0009429	biolink:Disease	hypophosphatemia, renal, with intracerebral calcifications		MESH:C565478|OMIM:241519|UMLS:C1855809	mondo.json	hypophosphatemia, renal, with intracerebral calcifications	http://purl.obolibrary.org/obo/MONDO_0009429	http://identifiers.org/mesh/C565478|https://omim.org/entry/241519|UMLS:C1855809	
MONDO:0022401	biolink:Disease	agyria pachygyria polymicrogyria	Cortical malformations characterized by no gyri, broad gyri and/or an excessive number of abnormally small gyri that result in an irregular cortical surface with lumpy aspect.	GARD:0000572	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022401		gard_rare
MONDO:0009428	biolink:Disease	obsolete childhood hypophosphatasia	OBSOLETE. Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait.	ICD10CM:E83.3|MESH:C562440|OMIM:241510|GARD:0008735|SCTID:30174008|Orphanet:247667|DOID:0110915|UMLS:C0220743	mondo.json	pediatric hypophosphatasia|obsolete childhood hypophosphatasia|childhood-onset hypophosphatasia|childhood-onset Rathburn disease|childhood-onset phosphoethanolaminuria|hypophosphatasia of childhood|hypophosphatasia, childhood	http://purl.obolibrary.org/obo/MONDO_0009428	https://omim.org/entry/241510|DOID:0110915|http://identifiers.org/mesh/C562440|Orphanet:247667|UMLS:C0220743|http://identifiers.org/snomedct/30174008	ordo_clinical_subtype|gard_rare
MONDO:0022402	biolink:Disease	agyria-pachygyria type 1	A disorder of neuronal migration that is characterized by abnormal cortex morphology, with pathological features including a variably decreased brain size, enlarged ventricles representing a stage of fetal development rather than hydrocephalus, heterotopia of the inferior olivary bodies that lie between the corpus pontobulbare and their normal location, aberrant or absent corticospinal tract, heterotopia of cerebellar granules and abnormally shaped dentate nuclei.	GARD:0000573	mondo.json	Bielchowsky type of lissencephaly|type I lissencephaly	http://purl.obolibrary.org/obo/MONDO_0022402		gard_rare
MONDO:0022403	biolink:Disease	Ahumada Del Castillo syndrome	A syndrome characterized by galactorrhea and amenorrhea with symptoms of estrogenic insufficiency and absence of urinary gonadotropins.	GARD:0005763	mondo.json	Argonz Del Castillo syndrome|Argonz Ahumada Del Castillo syndrome|galactorrhea amenorrhea without pregnancy|amenorrhea galactorrhea FSH decrease syndrome|nonpuerperal galactorrhe amenorrhea	http://purl.obolibrary.org/obo/MONDO_0022403		gard_rare
MONDO:0009427	biolink:Disease	obsolete infantile hypophosphatasia	OBSOLETE. Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization.	OMIM:241500|UMLS:C0268412|Orphanet:247651|ICD10CM:E83.3|SCTID:55236002|DOID:0110914	mondo.json	hypophosphatasia, perinatal lethal|obsolete infantile hypophosphatasia|HOPS|hypophosphatasia, infantile|infantile Rathburn disease|infantile phosphoethanolaminuria	http://purl.obolibrary.org/obo/MONDO_0009427	https://omim.org/entry/241500|DOID:0110914|Orphanet:247651|UMLS:C0268412|http://identifiers.org/snomedct/55236002	ordo_clinical_subtype
MONDO:0009426	biolink:Disease	hypoparathyroidism-retardation-dysmorphism syndrome	Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features.	Orphanet:2323|GARD:0000411|NCIT:C133727|OMIM:241410|UMLS:C1855840|MESH:C537157|DOID:0060348	mondo.json	Sanjad-Sakati syndrome|hypoparathyroidism with short stature, mental retardation, and seizures|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism with short stature, mental retardation and seizures|hypoparathyroidism with short stature, intellectual disability and seizures|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay|hypoparathyroidism-short stature-intellectual disability-seizures syndrome|hypoparathyroidism-retardation-dysmorphism syndrome|hypoparathyroidism, congenital, associated with Dysmorphism, Growth retardation, and developmental delay|HRD|HRDS|HRD syndrome|Richardson-Kirk syndrome|hypoparathyroidism with short stature, intellectual disability, and seizures|SSS	http://purl.obolibrary.org/obo/MONDO_0009426	NCIT:C133727|https://omim.org/entry/241410|UMLS:C1855840|DOID:0060348|Orphanet:2323|http://identifiers.org/mesh/C537157	ordo_malformation_syndrome
MONDO:0010415	biolink:Disease	myopathy, reducing body, X-linked, childhood-onset		MESH:C567468|OMIM:300718|UMLS:C2678015	mondo.json	RBMX1B|reducing body myopathy, X-linked 1B, with late childhood or adult onset|myopathy, reducing body, X-linked, childhood-onset	http://purl.obolibrary.org/obo/MONDO_0010415	https://omim.org/entry/300718|UMLS:C2678015|http://identifiers.org/mesh/C567468	
MONDO:0009425	biolink:Disease	hypomandibular faciocranial dysostosis	Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis.	Orphanet:1790|GARD:0002907|MESH:C537154|OMIM:241310|SCTID:721845005	mondo.json	hypomandibular faciocranial dysostosis	http://purl.obolibrary.org/obo/MONDO_0009425	http://identifiers.org/snomedct/721845005|https://omim.org/entry/241310|Orphanet:1790|http://identifiers.org/mesh/C537154	ordo_malformation_syndrome|gard_rare
MONDO:0010414	biolink:Disease	myopathy, reducing body, X-linked, early-onset, severe		MESH:C567469|UMLS:C2678027|OMIM:300717	mondo.json	RBMX1A|reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset|myopathy, reducing body, X-linked, early-onset, severe|reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, X-linked dominant	http://purl.obolibrary.org/obo/MONDO_0010414	https://omim.org/entry/300717|UMLS:C2678027|http://identifiers.org/mesh/C567469	
MONDO:0009424	biolink:Disease	Bartter disease type 2	Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene.	MESH:C537651|GARD:0009658|DOID:0110143|SCTID:700109009|Orphanet:93604|OMIM:241200	mondo.json	Bartter syndrome type 2 antenatal|hypokalemic alkalosis with hypercalciuria 2 antenatal|hypokalemic alkalosis with hypercalciuria, antenatal, 2|Bartter syndrome, type 2, antenatal|Bartter syndrome, antenatal, type 2|Bartter syndrome antenatal type 2|BARTS2|Bartter syndrome caused by mutation in KCNJ1|Bartter syndrome, type 2|hypokalemic alkalosis with hypercalciuria antenatal 2|hypokalemic alkalosis with hypercalciuria 2, antenatal|hyperprostaglandin E syndrome 2|Bartter syndrome type 2|Bartter disease type 2|KCNJ1 Bartter syndrome	http://purl.obolibrary.org/obo/MONDO_0009424	DOID:0110143|http://identifiers.org/mesh/C537651|http://identifiers.org/snomedct/700109009|https://omim.org/entry/241200	
MONDO:0010417	biolink:Disease	syndromic X-linked intellectual disability Najm type	Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.	DOID:0060807|OMIM:300749|UMLS:C2677903|GARD:0012669|Orphanet:163937|MESH:C567466	mondo.json	MICPCH|intellectual disability and microcephaly with pontine and cerebellar hypoplasia|microcephaly with pontine and cerebellar hypoplasia|mental retardation and microcephaly with pontine and cerebellar hypoplasia|intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, X-linked dominant|X-linked intellectual disability, Najm type|syndromic X-linked intellectual disability Najm type|X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia|intellectual disability, X-linked, syndromic, Najm type|Micpch syndrome|X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|intellectual disability and microcephaly with PONTINE and cerebellar hypoplasia|mental retardation, X-linked, syndromic, Najm type|mental retardation and microcephaly with PONTINE and cerebellar hypoplasia	http://purl.obolibrary.org/obo/MONDO_0010417	https://omim.org/entry/300749|DOID:0060807|http://identifiers.org/mesh/C567466|UMLS:C2677903|Orphanet:163937	ordo_disease
MONDO:0009423	biolink:Disease	hypokalemic alkalosis, familial, with specific renal tubulopathy		OMIM:241150|UMLS:C0268444|SCTID:81987005|MESH:C562654	mondo.json	Gullner syndrome|hypokalemic alkalosis, familial, with specific renal tubulopathy|hypokalemia, familial	http://purl.obolibrary.org/obo/MONDO_0009423	http://identifiers.org/snomedct/81987005|http://identifiers.org/mesh/C562654|UMLS:C0268444|https://omim.org/entry/241150	
MONDO:0010416	biolink:Disease	deafness, cataract, retinitis pigmentosa, and sperm abnormalities		UMLS:C2678011|MESH:C567467|OMIM:300719	mondo.json	deafness, cataract, retinitis pigmentosa, and sperm abnormalities, X-linked recessive|deafness, cataract, retinitis pigmentosa, and sperm abnormalities	http://purl.obolibrary.org/obo/MONDO_0010416	https://omim.org/entry/300719|UMLS:C2678011|http://identifiers.org/mesh/C567467	
MONDO:0010419	biolink:Disease	obsolete X-linked sideroblastic anemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010419		
MONDO:0009422	biolink:Disease	hypohidrosis with abnormal palmar dermal Ridges		MESH:C565481|UMLS:C1855856|OMIM:241120	mondo.json	sweat gland hypoplasia|hypohidrosis with abnormal palmar dermal Ridges	http://purl.obolibrary.org/obo/MONDO_0009422	UMLS:C1855856|https://omim.org/entry/241120|http://identifiers.org/mesh/C565481	
MONDO:0010418	biolink:Disease	hereditary spastic paraplegia 34	X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.	DOID:0110785|UMLS:C2677897|SCTID:763370008|OMIM:300750|Orphanet:171607|MESH:C567465	mondo.json	spastic paraplegia 34, X-linked|X-linked spastic paraplegia 34|SPG34|hereditary spastic paraplegia type 34|X-linked spastic paraplegia type 34|spastic paraplegia 34, X-linked, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0010418	DOID:0110785|https://omim.org/entry/300750|Orphanet:171607|http://identifiers.org/mesh/C567465|http://identifiers.org/snomedct/763370008|UMLS:C2677897	ordo_disease
MONDO:0009421	biolink:Disease	hypogonadism, male		SCTID:48723006|OMIM:241100|ICD9:257.2	mondo.json	hypogonadism and testicular atrophy|hypogonadism, male	http://purl.obolibrary.org/obo/MONDO_0009421	http://identifiers.org/snomedct/48723006|https://omim.org/entry/241100	
MONDO:0009420	biolink:Disease	primary hypergonadotropic hypogonadism-partial alopecia syndrome	This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia.	Orphanet:2232|OMIM:241090|SCTID:719275009|MESH:C567109|ICD10CM:E28.3	mondo.json	Al Awadi-Farag-Teebi syndrome|hypergonadotropic hypogonadism and partial alopecia	http://purl.obolibrary.org/obo/MONDO_0009420	Orphanet:2232|http://identifiers.org/mesh/C567109|https://omim.org/entry/241090|http://identifiers.org/snomedct/719275009	ordo_disease
MONDO:0010420	biolink:Disease	X-linked erythropoietic protoporphyria	X-linked form of erythropoietic protoporphyria.	Orphanet:79278|OMIM:300752|MESH:C567464|GARD:0010915|Orphanet:443197	mondo.json	X-linked dominant protoporphyria|XLP|protoporphyria, erythropoietic, X-linked dominant|X-linked dominant erythropoietic protoporphyria|protoporphyria, erythropoietic, X-linked|XLPP|XLEPP|erythropoietic protoporphyria, X-linked|XLDPP|Erythrohepatic protoporphyria, X-linked	http://purl.obolibrary.org/obo/MONDO_0010420	http://identifiers.org/mesh/C567464|https://omim.org/entry/300752|Orphanet:443197	ordo_disease
MONDO:0010422	biolink:Disease	Alzheimer disease 16	An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3.	UMLS:C2677888|OMIM:300756|MESH:C567463|DOID:0110036	mondo.json	Alzheimer's disease 16|AD16|Alzheimer's disease type 16|Alzheimer disease 16	http://purl.obolibrary.org/obo/MONDO_0010422	UMLS:C2677888|http://identifiers.org/mesh/C567463|DOID:0110036|https://omim.org/entry/300756	
MONDO:0010421	biolink:Disease	Bruton-type agammaglobulinemia	X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy.	SCTID:65880007|DOID:14179|NCIT:C3822|UMLS:C0221026|MedDRA:10060360|OMIM:300755|MESH:C537409|Orphanet:47|GARD:0001033	mondo.json	Bruton's agammaglobulinaemia|agammaglobulinemia, X-linked|agammaglobulinemia, BTK|Bruton-type agammaglobulinemia|agammaglobulinemia, X-linked 1, X-linked recessive|BTK deficiency|Bruton's type agammaglobulinemia|X-linked agammaglobulinemia|Bruton agammaglobulinemia tyrosine kinase deficiency|hypogammaglobulinemia, X-linked|Bruton's Sex-linked agammaglobulinemia|agammaglobulinemia, Bruton tyrosine kinase|Bruton's agammaglobulinemia|agammaglobulinemia, X-linked, type 1|XLA|Bruton's X-linked agammaglobulinemia|Bruton type agammaglobulinemia|BTK-deficiency|immunodeficiency 1	http://purl.obolibrary.org/obo/MONDO_0010421	NCIT:C3822|DOID:14179|http://identifiers.org/mesh/C537409|UMLS:C0221026|Orphanet:47|https://omim.org/entry/300755|http://identifiers.org/snomedct/65880007	ordo_clinical_subtype
MONDO:0010424	biolink:Disease	surfactant metabolism dysfunction, pulmonary, 4		OMIM:300770|UMLS:C2677877|MESH:C567461	mondo.json	Csf2Ra deficiency|SMDP4|Pap due to Csf2Ra deficiency|surfactant metabolism dysfunction, pulmonary, type 4|surfactant metabolism dysfunction, pulmonary, 4|pulmonary alveolar proteinosis, congenital, 4	http://purl.obolibrary.org/obo/MONDO_0010424	UMLS:C2677877|http://identifiers.org/mesh/C567461|https://omim.org/entry/300770	
MONDO:0010423	biolink:Disease	hypospadias 2, X-linked		UMLS:C2677879|MESH:C567462|OMIM:300758	mondo.json	HYSP2|hypospadias 2, X-linked|hypospadias 2, X-linked, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0010423	http://identifiers.org/mesh/C567462|UMLS:C2677879|https://omim.org/entry/300758	
MONDO:0009439	biolink:Disease	autosomal recessive congenital ichthyosis 2	An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin.	NCIT:C132827|GARD:0009736|OMIM:242100|DOID:0060710	mondo.json	Brocq congenital ichthyosiform erythroderma nonbullous form|ichthyosis, congenital, autosomal recessive 2|ichthyosis, congenital, autosomal recessive type 2|nonbullous congenital ichthyosiform erythroderma 1|NCIE|ARCI2|ichthyosiform erythroderma, Brocq congenital, nonbullous form, formerly|ichthyosiform erythroderma, congenital, nonbullous, 1|ichthyosiform erythroderma, Brocq congenital, nonbullous form|ichthyosiform erythroderma, nonbullous congenital, 1, formerly|autosomal recessive congenital ichthyosis type 2|ichthyosiform erythroderma, nonbullous congenital, 1|NBCIE|NCIE1|collodion baby, self-healing	http://purl.obolibrary.org/obo/MONDO_0009439	NCIT:C132827|DOID:0060710|https://omim.org/entry/242100	
OBI:0000011	biolink:NamedThing	planned process	A processual entity that realizes a plan which is the concretization of a plan specification.		mondo.json		http://purl.obolibrary.org/obo/OBI_0000011		
MONDO:0009438	biolink:Disease	hypouricemia, hypercalcinuria, and decreased bone density		MESH:C565475|OMIM:242050|UMLS:C1855793	mondo.json	hypouricemia, hypercalcinuria, and decreased bone density	http://purl.obolibrary.org/obo/MONDO_0009438	http://identifiers.org/mesh/C565475|UMLS:C1855793|https://omim.org/entry/242050	
MONDO:0010404	biolink:Disease	X-linked non progressive cerebellar ataxia	X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.	OMIM:300703|Orphanet:314978|SCTID:766818009|UMLS:C2678048|MESH:C567478	mondo.json	X-linked spinocerebellar ataxia type 5|spinocerebellar ataxia, X-linked 5|SCAX5|spinocerebellar ataxia, X-linked 5, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0010404	http://identifiers.org/snomedct/766818009|Orphanet:314978|https://omim.org/entry/300703|UMLS:C2678048|http://identifiers.org/mesh/C567478	ordo_disease
MONDO:0009437	biolink:Disease	Bamforth-Lazarus syndrome	Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.	SCTID:722375007|OMIM:241850|Orphanet:1226|GARD:0000414|MESH:C537901|DOID:0050655	mondo.json	Bamforth syndrome|hypothyroidism, thyroidal or ATHYROIDAL, with spiky hair and cleft palate|Athyroidal hypothyroidism-spiky hair-cleft palate syndrome|hypothyroidism-cleft palate syndrome|hypothyroidism cleft palate hypothyroidism, athyroidal, with spiky hair and cleft palate|hypothyroidism, ATHYROIDAL, with spiky hair and cleft palate|Bamforth-Lazarus syndrome	http://purl.obolibrary.org/obo/MONDO_0009437	http://identifiers.org/snomedct/722375007|DOID:0050655|http://identifiers.org/mesh/C537901|https://omim.org/entry/241850|Orphanet:1226	ordo_malformation_syndrome
UBERON:0006292	biolink:AnatomicalEntity	shoulder joint primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006292		
MONDO:0010403	biolink:Disease	albinism-hearing loss syndrome	A syndromic genetic hearing loss is characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.	SCTID:722285005|SCTID:74320008|OMIM:300700|MESH:C537042|Orphanet:998|GARD:0000589	mondo.json	ALDS|albinism deafness syndrome|ADFN|Woolf's syndrome|albinism-deafness syndrome|Ziprkowski–Margolis syndrome|Woolf syndrome	http://purl.obolibrary.org/obo/MONDO_0010403	https://omim.org/entry/300700|http://identifiers.org/mesh/C537042|http://identifiers.org/snomedct/722285005|http://identifiers.org/snomedct/74320008|Orphanet:998	ordo_malformation_syndrome|gard_rare
MONDO:0009436	biolink:Disease	congenital hypothalamic hamartoma syndrome	Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic.	ICD9:759.6|Orphanet:2113|MESH:C537158|OMIM:241800|GARD:0002934|SCTID:237714006|NCIT:C4385	mondo.json	congenital hypothalamic hamartoma syndrome|hypothalamic hamartomas|hamartoma of the hypothalamus|Pallister-Hall-like syndrome|hypothalamic hamartoma|hamartoma of hypothalamus	http://purl.obolibrary.org/obo/MONDO_0009436	https://omim.org/entry/241800|NCIT:C4385|http://identifiers.org/snomedct/237714006|Orphanet:2113|http://identifiers.org/mesh/C537158	gard_rare
UBERON:0006291	biolink:AnatomicalEntity	scapula pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006291		
MONDO:0009435	biolink:Disease	hypospadias-intellectual disability, Goldblatt type syndrome	Hypospasdias B intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails.	GARD:0002928|Orphanet:2261|SCTID:716096005|OMIM:241760|MESH:C563067	mondo.json	Goldblatt-Wallis syndrome|hypospadias intellectual disability Goldblatt type|hypospadias-intellectual disability syndrome|hypospadias mental retardation Goldblatt type|hypospadias mental retardation syndrome|hypospadias intellectual disability syndrome|hypospadias-mental retardation syndrome|Goldblatt Wallis syndrome|hypospadias intellectual deficit Goldblatt type	http://purl.obolibrary.org/obo/MONDO_0009435	https://omim.org/entry/241760|http://identifiers.org/mesh/C563067|http://identifiers.org/snomedct/716096005|Orphanet:2261	gard_rare|ordo_malformation_syndrome
MONDO:0010406	biolink:Disease	chromosome Xp11.22 duplication syndrome		OMIM:300705|DECIPHER:90	mondo.json	intellectual disability, X-linked 31|Xp11.22-linked intellectual disability|mental retardation, X-linked 31|Xp11.22 microduplication syndrome|chromosome Xp11.22 duplication syndrome|intellectual disability, X-linked 17|mental retardation, X-linked 17	http://purl.obolibrary.org/obo/MONDO_0010406	https://omim.org/entry/300705	
UBERON:0006290	biolink:AnatomicalEntity	scapula cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006290		
MONDO:0009434	biolink:Disease	hypoproteinemia, hypercatabolic		UMLS:C1855796|OMIM:241600|MESH:C565476	mondo.json	hypoproteinemia, hypercatabolic|B2M deficiency|immunodeficiency 43|Beta-2-microglobulin deficiency|IMD43	http://purl.obolibrary.org/obo/MONDO_0009434	UMLS:C1855796|http://identifiers.org/mesh/C565476|https://omim.org/entry/241600	
MONDO:0010405	biolink:Disease	prostate cancer, hereditary, X-linked 2		OMIM:300704|MESH:C567477|UMLS:C2678047	mondo.json	HPCX2|prostate cancer, hereditary, X-linked 2	http://purl.obolibrary.org/obo/MONDO_0010405	https://omim.org/entry/300704|UMLS:C2678047|http://identifiers.org/mesh/C567477	
MONDO:0010408	biolink:Disease	syndactyly-telecanthus-anogenital and renal malformations syndrome	This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.	OMIM:300707|MESH:C567475|GARD:0010295|Orphanet:140952|UMLS:C2678045|SCTID:723581006	mondo.json	toe syndactyly, telecanthus, and anogenital and renal malformations|STAR syndrome, X-linked dominant|Star syndrome|toe syndactyly, telecanthus, anogenital and renal malformations|STAR|STAR syndrome|syndactyly with renal and anogenital malformations|syndactyly-telecanthus-anogenital and renal malformations syndrome|syndactyly, telecanthus, anogenital and renal malformations	http://purl.obolibrary.org/obo/MONDO_0010408	https://omim.org/entry/300707|UMLS:C2678045|http://identifiers.org/snomedct/723581006|http://identifiers.org/mesh/C567475|Orphanet:140952	ordo_malformation_syndrome
MONDO:0009433	biolink:Disease	hypoplastic left heart syndrome 1	Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene.	OMIM:614435|OMIM:241550|UMLS:CN031062	mondo.json	HLHS1|hypoplastic left heart syndrome 1|HLHS|hypoplastic left heart syndrome caused by mutation in GJA1|GJA1 hypoplastic left heart syndrome|hypoplastic left heart syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0009433	UMLS:CN031062|https://omim.org/entry/241550	
MONDO:0010407	biolink:Disease	intellectual disability, X-linked syndromic, Turner type	An X-linked syndromic intellectual disability characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.	DOID:0060829|MESH:C567476|GARD:0005610|UMLS:C0796272|UMLS:C2678046|Orphanet:85328|OMIM:300612|OMIM:300706|Orphanet:3056|DOID:0060811|GARD:0005604|OMIM:309590|SCTID:725912001|MESH:C563154	mondo.json	mental retardation and macrocephaly syndrome|mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown type|mental retardation, X-linked, syndromic, Turner type|MRXST|X-linked intellectual disability, Turner type|X-linked mental retardation Brooks type|Brooks-Wisniewski-Brown Syndrome|mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown Type|Juberg-Marsidi Syndrome|syndromic X-linked intellectual disability Turner type|X-linked intellectual disability, Brooks type|mental retardation, X-Linked, with growth retardation, deafness, and microgenitalism|intellectual disability, X-linked syndromic, Turner type|Brooks Wisniewski Brown syndrome|Brooks-Wisniewski-Brown syndrome	http://purl.obolibrary.org/obo/MONDO_0010407	http://identifiers.org/snomedct/725912001|http://identifiers.org/mesh/C563154|https://omim.org/entry/309590|DOID:0060811|UMLS:C2678046|Orphanet:3056|UMLS:C0796272|http://identifiers.org/mesh/C567476|Orphanet:85328	ordo_disease|ordo_malformation_syndrome|gard_rare
MONDO:0009432	biolink:Disease	hypopituitarism, congenital, with central diabetes insipidus		UMLS:C1855800|OMIM:241540|MESH:C565477	mondo.json	hypopituitarism, congenital, with central diabetes insipidus	http://purl.obolibrary.org/obo/MONDO_0009432	UMLS:C1855800|http://identifiers.org/mesh/C565477|https://omim.org/entry/241540	
MONDO:0009431	biolink:Disease	hereditary hypophosphatemic rickets with hypercalciuria	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.	SCTID:237891005|DOID:0050947|Orphanet:157215|NCIT:C131450|UMLS:C1853271|ICD10CM:E83.3|MESH:C562793|OMIM:241530	mondo.json	hypercalciuric hypophosphatemic rickets|hypophosphatemic rickets with hypercalciuria|hypercalciuric rickets|hypophosphatemic hypercalciuric rickets|HHRH|hypophosphatemic rickets with hypercalciuria, hereditary	http://purl.obolibrary.org/obo/MONDO_0009431	UMLS:C1853271|Orphanet:157215|http://identifiers.org/mesh/C562793|http://identifiers.org/snomedct/237891005|https://omim.org/entry/241530|DOID:0050947|NCIT:C131450	ordo_disease
MONDO:0010409	biolink:Disease	syndromic X-linked intellectual disability Shrimpton type	X-linked intellectual disability, Shrimpton type is characterised by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localised to the q12-Xq21.31 region of the X-chromosome.	MESH:C567474|UMLS:C2678039|OMIM:300709|DOID:0060813|Orphanet:85324	mondo.json	intellectual disability, X-linked, syndromic 9|X-linked intellectual disability, Shrimpton type|MRXS9|mental retardation, X-linked, syndromic 9	http://purl.obolibrary.org/obo/MONDO_0010409	https://omim.org/entry/300709|DOID:0060813|UMLS:C2678039|http://identifiers.org/mesh/C567474|Orphanet:85324	ordo_malformation_syndrome
MONDO:0009430	biolink:Disease	hypophosphatemic rickets, autosomal recessive, 1	Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene.	UMLS:C0342643|OMIM:241520|MESH:C562792	mondo.json	hypophosphatemic rickets, AR|hypophosphatemic rickets, autosomal recessive, type 1|hypophosphatemia, autosomal recessive|ARHR1|autosomal recessive hypophosphatemic rickets caused by mutation in DMP1|DMP1 autosomal recessive hypophosphatemic rickets|hypophosphatemic rickets, autosomal recessive, 1|Arhr	http://purl.obolibrary.org/obo/MONDO_0009430	http://identifiers.org/mesh/C562792|https://omim.org/entry/241520|UMLS:C0342643	
UBERON:0006298	biolink:AnatomicalEntity	submandibular gland primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006298		
UBERON:0006297	biolink:AnatomicalEntity	sublingual gland primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006297		
MONDO:0010411	biolink:Disease	pyloric stenosis, infantile hypertrophic, 4		MESH:C567472|OMIM:300711|UMLS:C2678037	mondo.json	pyloric stenosis, infantile hypertrophic, 4|IHPS4	http://purl.obolibrary.org/obo/MONDO_0010411	https://omim.org/entry/300711|UMLS:C2678037|http://identifiers.org/mesh/C567472	
MONDO:0010410	biolink:Disease	alopecia, androgenetic, 2		OMIM:300710|UMLS:C2678038|MESH:C567473	mondo.json	AGA2|alopecia, androgenetic, 2	http://purl.obolibrary.org/obo/MONDO_0010410	UMLS:C2678038|http://identifiers.org/mesh/C567473|https://omim.org/entry/300710	
MONDO:0010413	biolink:Disease	intellectual disability, X-linked 95		MESH:C567470|UMLS:C2678034|OMIM:300716	mondo.json	mental retardation, X-linked 95, X-linked dominant|intellectual disability, X-linked 95|MRX95|mental retardation, X-linked 95	http://purl.obolibrary.org/obo/MONDO_0010413	https://omim.org/entry/300716|UMLS:C2678034|http://identifiers.org/mesh/C567470	
MONDO:0010412	biolink:Disease	X-linked intellectual disability-craniofacioskeletal syndrome	X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.	MESH:C567471|OMIM:300712|UMLS:C2678036|Orphanet:163979	mondo.json	craniofacioskeletal syndrome, X-linked recessive, X-linked dominant|craniofacioskeletal syndrome	http://purl.obolibrary.org/obo/MONDO_0010412	https://omim.org/entry/300712|UMLS:C2678036|http://identifiers.org/mesh/C567471|Orphanet:163979	ordo_disease
UBERON:0006293	biolink:AnatomicalEntity	spleen primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006293		
NCBITaxon:424574	biolink:OrganismalEntity	Solaneae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_424574		
GO:2000468	biolink:NamedThing	regulation of peroxidase activity	Any process that modulates the frequency, rate or extent of peroxidase activity.		mondo.json	regulation of peroxidase reaction|regulation of oxyperoxidase activity|regulation of donor:hydrogen-peroxide oxidoreductase activity	http://purl.obolibrary.org/obo/GO_2000468		
GO:2000469	biolink:NamedThing	negative regulation of peroxidase activity	Any process that stops, prevents or reduces the frequency, rate or extent of peroxidase activity.		mondo.json	negative regulation of oxyperoxidase activity|negative regulation of donor:hydrogen-peroxide oxidoreductase activity|negative regulation of peroxidase reaction	http://purl.obolibrary.org/obo/GO_2000469		
UBERON:0018303	biolink:AnatomicalEntity	adrenal tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018303		
UBERON:0006321	biolink:AnatomicalEntity	superior oblique extraocular muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006321		
UBERON:0008987	biolink:AnatomicalEntity	renal parenchyma			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008987		
GO:2000463	biolink:NamedThing	positive regulation of excitatory postsynaptic potential	Any process that enhances the establishment or increases the extent of the excitatory postsynaptic potential (EPSP) which is a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential.		mondo.json	positive regulation of EPSP|positive regulation of excitatory post-synaptic membrane potential	http://purl.obolibrary.org/obo/GO_2000463		
UBERON:0008989	biolink:AnatomicalEntity	submucosal esophageal gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008989		
UBERON:0008982	biolink:AnatomicalEntity	fascia			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008982		
GO:0004415	biolink:NamedThing	hyalurononglucosaminidase activity	Catalysis of the random hydrolysis of (1->4) linkages between N-acetyl-beta-D-glucosamine and D-glucuronate residues in hyaluronate.		mondo.json	hyaluronoglucosidase activity|chondroitinase activity|chondroitinase I activity|hyaluronate 4-glycanohydrolase activity|hyaluronoglucosaminidase activity|hyaluronidase activity	http://purl.obolibrary.org/obo/GO_0004415		
GO:2000470	biolink:NamedThing	positive regulation of peroxidase activity	Any process that activates or increases the frequency, rate or extent of peroxidase activity.		mondo.json	positive regulation of donor:hydrogen-peroxide oxidoreductase activity|positive regulation of peroxidase reaction|positive regulation of oxyperoxidase activity	http://purl.obolibrary.org/obo/GO_2000470		
UBERON:0006311	biolink:AnatomicalEntity	chamber of eyeball			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006311		
UBERON:0008974	biolink:AnatomicalEntity	apocrine gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008974		
OIO:hasRelatedSynonym	biolink:NamedThing	has_related_synonym			mondo.json		http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym		
NCBITaxon:2585030	biolink:OrganismalEntity	unclassified Riboviria		GC_ID:1	mondo.json	unclassified RNA viruses	http://purl.obolibrary.org/obo/NCBITaxon_2585030		
UBERON:0006314	biolink:AnatomicalEntity	bodily fluid	Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not.		mondo.json	fluid|body fluid	http://purl.obolibrary.org/obo/UBERON_0006314		
UBERON:0008971	biolink:AnatomicalEntity	left colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008971		
UBERON:0006312	biolink:AnatomicalEntity	ocular refractive media			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006312		
HGNC:4507	biolink:NamedThing	GABBR2			mondo.json		http://identifiers.org/hgnc/4507		
NCBITaxon:424551	biolink:OrganismalEntity	Solanoideae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_424551		
UBERON:0008969	biolink:AnatomicalEntity	dental follicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008969		
CHEBI:16199	biolink:ChemicalSubstance	urea	A carbonyl group with two C-bound amine groups. The commercially available fertilizer has an analysis of 46-0-0 (N-P2O5-K2O).		mondo.json	carbonyldiamide|E927b|Harnstoff|H2NC(O)NH2|carbamide|Carbamide|uree|urea|Karbamid|Urea|UREA|ur|1728	http://purl.obolibrary.org/obo/CHEBI_16199		
UBERON:0006306	biolink:AnatomicalEntity	ulna cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006306		
HGNC:4512	biolink:NamedThing	ADGRG1			mondo.json		http://identifiers.org/hgnc/4512		
UBERON:0006304	biolink:AnatomicalEntity	future trigeminal ganglion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006304		
HGNC:4510	biolink:NamedThing	KISS1R			mondo.json		http://identifiers.org/hgnc/4510		
UBERON:0008962	biolink:AnatomicalEntity	forelimb bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008962		
HGNC:4519	biolink:NamedThing	GPR68			mondo.json		http://identifiers.org/hgnc/4519		
HGNC:4516	biolink:NamedThing	ADGRG2			mondo.json		http://identifiers.org/hgnc/4516		
HP:0025580	biolink:PhenotypicFeature	Abnormal right atrium morphology	Any structural abnormality of the right atrium.	Fyler:1770	mondo.json		http://purl.obolibrary.org/obo/HP_0025580		
CHEBI:16189	biolink:ChemicalSubstance	sulfate	A sulfur oxoanion obtained by deprotonation of both OH groups of sulfuric acid.		mondo.json	tetraoxosulfate(2-)|Sulfate(2-)|Sulfate dianion|Sulfate|sulfate|sulphate ion|Sulfuric acid ion(2-)|tetraoxidosulfate(2-)|Sulfate anion(2-)|[SO4](2-)|tetraoxosulfate(VI)|sulphate|SULFATE ION|SO4(2-)	http://purl.obolibrary.org/obo/CHEBI_16189		
UBERON:0008951	biolink:AnatomicalEntity	left lung lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008951		
NCBITaxon:53469	biolink:OrganismalEntity	Ancylostomatinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_53469		
CHEBI:16137	biolink:ChemicalSubstance	chondroitin D-glucuronate	A mucopolysaccharide composed of repeating beta-D-glucopyranuronosyl-(1->3)-beta-D-N-acetylgalactosaminyl units.		mondo.json	Chondroitin|Chondroitin-D-glucuronate	http://purl.obolibrary.org/obo/CHEBI_16137		
CHEBI:16134	biolink:ChemicalSubstance	ammonia	An azane that consists of a single nitrogen atom covelently bonded to three hydrogen atoms.		mondo.json	azane|Ammoniak|R-717|spirit of hartshorn|[NH3]|amoniaco|Ammonia|ammonia|AMMONIA|ammoniac|NH3	http://purl.obolibrary.org/obo/CHEBI_16134		
NCBITaxon:53467	biolink:OrganismalEntity	Mesocestoides		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_53467		
NCBITaxon:53466	biolink:OrganismalEntity	Mesocestoididae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_53466		
HGNC:4539	biolink:NamedThing	GPR88			mondo.json		http://identifiers.org/hgnc/4539		
NCBITaxon:172148	biolink:OrganismalEntity	Alkhumra hemorrhagic fever virus		GC_ID:1	mondo.json	AHFV	http://purl.obolibrary.org/obo/NCBITaxon_172148		
UBERON:0006355	biolink:AnatomicalEntity	superior vesical vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006355		
UBERON:0006356	biolink:AnatomicalEntity	epigastric vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006356		
UBERON:0018321	biolink:AnatomicalEntity	foramen for glossopharyngeal nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018321		
UBERON:0018326	biolink:AnatomicalEntity	ilioischiadic foramen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018326		
HGNC:4551	biolink:NamedThing	TECR			mondo.json		http://identifiers.org/hgnc/4551		
UBERON:0006340	biolink:AnatomicalEntity	fourth ventricle choroid plexus stroma			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006340		
UBERON:0006349	biolink:AnatomicalEntity	epigastric artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006349		
HGNC:4556	biolink:NamedThing	GPX4			mondo.json		http://identifiers.org/hgnc/4556		
UBERON:0006347	biolink:AnatomicalEntity	communicating artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006347		
HGNC:4553	biolink:NamedThing	GPX1			mondo.json		http://identifiers.org/hgnc/4553		
CHEBI:16150	biolink:ChemicalSubstance	benzoate	The simplest member of the class of  benzoates that is the conjugate base of benzoic acid, comprising a benzoic acid core with a proton missing to give a charge of -1.		mondo.json	benzoate anion|Benzenecarboxylate|Phenylformate|Benzenemethanoate|benzoate|benzoic acid, ion(1-)|Phenylcarboxylate|Benzeneformate	http://purl.obolibrary.org/obo/CHEBI_16150		
PO:0025395	biolink:NamedThing	floral organ	A plant organ (PO:0009008) that is part of a flower (PO:0009046).	PO_GIT:423	mondo.json	&#243rgano floral (Spanish, exact)|flower organ (exact)|花器官 (Japanese, exact)	http://purl.obolibrary.org/obo/PO_0025395		
CHEBI:28112	biolink:ChemicalSubstance	nickel atom	Chemical element (nickel group element atom) with atomic number 28.		mondo.json	28Ni|niccolum|nickel|Raney alloy|Ni|nickel|Nickel|niquel	http://purl.obolibrary.org/obo/CHEBI_28112		
UBERON:0008998	biolink:AnatomicalEntity	vasculature of brain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008998		
UBERON:0006331	biolink:AnatomicalEntity	brainstem nucleus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006331		
UBERON:0006339	biolink:AnatomicalEntity	third ventricle choroid plexus stroma			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006339		
UBERON:0006338	biolink:AnatomicalEntity	lateral ventricle choroid plexus stroma			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006338		
GO:0004485	biolink:NamedThing	methylcrotonoyl-CoA carboxylase activity	Catalysis of the reaction: 3-methylbut-2-enoyl-CoA + ATP + bicarbonate = trans-3-methylglutaconyl-CoA + ADP + 2 H(+) + phosphate.		mondo.json	methylcrotonyl-CoA carboxylase activity|3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)|beta-methylcrotonyl CoA carboxylase activity|MCCC activity|methylcrotonyl coenzyme A carboxylase activity|beta-methylcrotonyl-CoA carboxylase activity|beta-methylcrotonyl coenzyme A carboxylase activity	http://purl.obolibrary.org/obo/GO_0004485		
GO:0016469	biolink:NamedThing	proton-transporting two-sector ATPase complex	A large protein complex that catalyzes the synthesis or hydrolysis of ATP by a rotational mechanism, coupled to the transport of protons across a membrane. The complex comprises a membrane sector (F0, V0, or A0) that carries out proton transport and a cytoplasmic compartment sector (F1, V1, or A1) that catalyzes ATP synthesis or hydrolysis. Two major types have been characterized: V-type ATPases couple ATP hydrolysis to the transport of protons across a concentration gradient, whereas F-type ATPases, also known as ATP synthases, normally run in the reverse direction to utilize energy from a proton concentration or electrochemical gradient to synthesize ATP. A third type, A-type ATPases have been found in archaea, and are closely related to eukaryotic V-type ATPases but are reversible.		mondo.json	hydrogen-transporting two-sector ATPase complex|vacuolar hydrogen-transporting ATPase	http://purl.obolibrary.org/obo/GO_0016469		
GO:0016462	biolink:NamedThing	pyrophosphatase activity	Catalysis of the hydrolysis of a pyrophosphate bond (diphosphate bond) between two phosphate groups.		mondo.json		http://purl.obolibrary.org/obo/GO_0016462		
GO:0004497	biolink:NamedThing	monooxygenase activity	Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water.		mondo.json	hydroxylase activity	http://purl.obolibrary.org/obo/GO_0004497		
HP:0001574	biolink:PhenotypicFeature	Abnormality of the integument	An abnormality of the integument, which consists of the skin and the superficial fascia.	UMLS:C4025761	mondo.json		http://purl.obolibrary.org/obo/HP_0001574		
GO:0016477	biolink:NamedThing	cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.		mondo.json		http://purl.obolibrary.org/obo/GO_0016477		
NCBITaxon:338152	biolink:OrganismalEntity	Felinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_338152		
GO:0004466	biolink:NamedThing	long-chain-acyl-CoA dehydrogenase activity	Catalysis of the reaction: acyl-CoA + ETF = 2,3-dehydroacyl-CoA + reduced ETF.		mondo.json	long-chain-acyl-CoA:(acceptor) 2,3-oxidoreductase activity|palmitoyl-coenzyme A dehydrogenase activity|long-chain acyl-coenzyme A dehydrogenase activity|long-chain-acyl-CoA:acceptor 2,3-oxidoreductase activity|palmitoyl-CoA dehydrogenase activity	http://purl.obolibrary.org/obo/GO_0004466		
HP:0001548	biolink:PhenotypicFeature	Overgrowth	Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.	UMLS:C1849265|UMLS:C3150281|UMLS:C1851731	mondo.json	Generalized overgrowth|General overgrowth|Generalised overgrowth	http://purl.obolibrary.org/obo/HP_0001548		
HP:0001541	biolink:PhenotypicFeature	Ascites	Accumulation of fluid in the peritoneal cavity.	MSH:D001201|SNOMEDCT_US:389026000|UMLS:C0003962	mondo.json	Accumulation of fluid in the abdomen	http://purl.obolibrary.org/obo/HP_0001541		hposlim_core
GO:0016444	biolink:NamedThing	somatic cell DNA recombination	Recombination occurring within or between DNA molecules in somatic cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0016444		
GO:0016445	biolink:NamedThing	somatic diversification of immunoglobulins	The somatic process that results in the generation of sequence diversity of immunoglobulins.		mondo.json	somatic diversification of antibodies	http://purl.obolibrary.org/obo/GO_0016445		
GO:0016447	biolink:NamedThing	somatic recombination of immunoglobulin gene segments	The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, as known as immunoglobulin gene segments, within a single locus.		mondo.json	somatic recombination of antibody gene segments	http://purl.obolibrary.org/obo/GO_0016447		
HP:0001558	biolink:PhenotypicFeature	Decreased fetal movement	An abnormal reduction in quantity or strength of fetal movements.	UMLS:C0235659|SNOMEDCT_US:276369006	mondo.json	Decreased foetal movement|Decreased foetal activity|Decreased foetal movements|Reduced fetal movements|Reduced fetal movement|Decreased movement in utero|Less than 10 foetal movements in 12 hours|Reduced foetal movement|Reduced foetal movements|Foetal hypokinesia|Decreased fetal movements|Decreased fetal activity|Less than 10 fetal movements in 12 hours|Fetal hypokinesia	http://purl.obolibrary.org/obo/HP_0001558		
HP:0001557	biolink:PhenotypicFeature	Prenatal movement abnormality	An abnormality of fetal movement.	UMLS:C1849510	mondo.json	Abnormal intrauterine movements	http://purl.obolibrary.org/obo/HP_0001557		
GO:0090394	biolink:NamedThing	negative regulation of excitatory postsynaptic potential	Any process that prevents the establishment or decreases the extent of the excitatory postsynaptic potential (EPSP) which is a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential.		mondo.json	reduction of excitatory postsynaptic membrane potential|negative regulation of excitatory post-synaptic membrane potential|negative regulation of EPSP	http://purl.obolibrary.org/obo/GO_0090394		
GO:0016454	biolink:NamedThing	C-palmitoyltransferase activity	Catalysis of the transfer of a palmitoyl group to a carbon atom on the acceptor molecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0016454		
OGMS:0000087	biolink:NamedThing	extended organism	An object aggregate consisting of an organism and all material entities located within the organism, overlapping the organism, or occupying sites formed in part by the organism.		mondo.json		http://purl.obolibrary.org/obo/OGMS_0000087		
UBERON:0008946	biolink:AnatomicalEntity	lung parenchyma			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008946		
UBERON:0008947	biolink:AnatomicalEntity	respiratory primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008947		
HGNC:11480	biolink:NamedThing	SVIL			mondo.json		http://identifiers.org/hgnc/11480		
PO:0025338	biolink:NamedThing	collective plant organ structure development stage	A plant structure development stage (PO:0009012) that has as primary participant a collective plant structure (PO:0025497).	PO_GIT:391	mondo.json	etapa de desarrollo de una estructura colectiva de la planta (Spanish, exact)|集合的植物構造の発生過程 (Japanese, exact)	http://purl.obolibrary.org/obo/PO_0025338		
GO:0016421	biolink:NamedThing	CoA carboxylase activity	Catalysis of the joining of a carboxyl group to a molecule that is attached to CoA, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate.		mondo.json		http://purl.obolibrary.org/obo/GO_0016421		
GO:0004457	biolink:NamedThing	lactate dehydrogenase activity	Catalysis of the reaction: lactate + NAD+ = H+ + NADH + pyruvate.		mondo.json		http://purl.obolibrary.org/obo/GO_0004457		
HGNC:11497	biolink:NamedThing	SYNGAP1			mondo.json		http://identifiers.org/hgnc/11497		
HGNC:11495	biolink:NamedThing	SYN2			mondo.json		http://identifiers.org/hgnc/11495		
HGNC:11494	biolink:NamedThing	SYN1			mondo.json		http://identifiers.org/hgnc/11494		
GO:0004423	biolink:NamedThing	iduronate-2-sulfatase activity	Catalysis of the hydrolysis of the 2-sulfate groups of the L-iduronate 2-sulfate units of dermatan sulfate, heparan sulfate and heparin.		mondo.json	sulfoiduronate sulfohydrolase activity|L-iduronosulfatase activity|iduronate-2-sulfate sulfatase activity|2-sulfo-L-iduronate 2-sulfatase activity|iduronate sulfatase activity|chondroitinsulfatase|L-idurono sulfate sulfatase activity|sulfo-L-iduronate sulfatase activity|idurono-2-sulfatase activity|iduronide-2-sulfate sulfatase activity|iduronate sulfate sulfatase activity|iduronate-2-sulphatase activity|L-iduronate-2-sulfate 2-sulfohydrolase activity|L-iduronate 2-sulfate sulfatase activity	http://purl.obolibrary.org/obo/GO_0004423		
OGMS:0000063	biolink:NamedThing	disease course	The totality of all processes through which a given disease instance is realized.		mondo.json		http://purl.obolibrary.org/obo/OGMS_0000063		
GO:0016408	biolink:NamedThing	C-acyltransferase activity	Catalysis of the transfer of an acyl group to a carbon atom on the acceptor molecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0016408		
OGMS:0000060	biolink:NamedThing	bodily process	A process in which at least one bodily component of an organsim participates.		mondo.json		http://purl.obolibrary.org/obo/OGMS_0000060		
GO:0016409	biolink:NamedThing	palmitoyltransferase activity	Catalysis of the transfer of a palmitoyl (CH3-[CH2]14-CO-) group to an acceptor molecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0016409		
OGMS:0000061	biolink:NamedThing	pathological bodily process	A bodily process that is clinically abnormal.		mondo.json		http://purl.obolibrary.org/obo/OGMS_0000061		
GO:0016406	biolink:NamedThing	carnitine O-acyltransferase activity	Catalysis of the transfer of an acyl group to an oxygen atom on the carnitine molecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0016406		
GO:0016407	biolink:NamedThing	acetyltransferase activity	Catalysis of the transfer of an acetyl group to an acceptor molecule.		mondo.json	acetylase activity	http://purl.obolibrary.org/obo/GO_0016407		
HP:0001581	biolink:PhenotypicFeature	Recurrent skin infections	Infections of the skin that happen multiple times.	UMLS:C1853193	mondo.json	Cutaneous infections|Skin infections, recurrent|Recurrent skin infections	http://purl.obolibrary.org/obo/HP_0001581		
HGNC:11460	biolink:NamedThing	SUOX			mondo.json		http://identifiers.org/hgnc/11460		
UBERON:0008907	biolink:AnatomicalEntity	dermal bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008907		
UBERON:0008909	biolink:AnatomicalEntity	perichordal bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008909		
HGNC:23452	biolink:NamedThing	LIPN			mondo.json		http://identifiers.org/hgnc/23452		
HP:0001596	biolink:PhenotypicFeature	Alopecia	A noncongenital process of hair loss, which may progress to partial or complete baldness.	MSH:D000505|SNOMEDCT_US:278040002|SNOMEDCT_US:56317004|UMLS:C0002170|MEDDRA:10001760	mondo.json	Hair loss	http://purl.obolibrary.org/obo/HP_0001596		hposlim_core
HP:0001597	biolink:PhenotypicFeature	Abnormality of the nail	Abnormality of the nail.	SNOMEDCT_US:17790008|MSH:D009264|UMLS:C0853087|MSH:D009260|UMLS:C0027339	mondo.json	Abnormality of the nail|Nail disease	http://purl.obolibrary.org/obo/HP_0001597		
HP:0001595	biolink:PhenotypicFeature	Abnormal hair morphology	An abnormality of the hair.	UMLS:C2677869|UMLS:C0157733	mondo.json	Abnormality of the hair shaft|Abnormality of the hair|Hair abnormality	http://purl.obolibrary.org/obo/HP_0001595		hposlim_core
GO:0016413	biolink:NamedThing	O-acetyltransferase activity	Catalysis of the transfer of an acetyl group to an oxygen atom on the acceptor molecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0016413		
GO:0016410	biolink:NamedThing	N-acyltransferase activity	Catalysis of the transfer of an acyl group to a nitrogen atom on the acceptor molecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0016410		
HGNC:11474	biolink:NamedThing	SURF1			mondo.json		http://identifiers.org/hgnc/11474		
CHR:9606-chr20q1	biolink:NamedThing	20q1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr20q1		
MONDO:0010359	biolink:Disease	Dent disease type 2	Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features.	UMLS:C4305529|Orphanet:93623|UMLS:C1845167|OMIM:300555|MESH:C564487|SCTID:717790004	mondo.json	dent disease 2, X-linked recessive|nephrolithiasis type 2|DENT disease 2|Dent disease type 2|Dent disease caused by mutation in OCRL|OCRL Dent disease	http://purl.obolibrary.org/obo/MONDO_0010359	http://identifiers.org/mesh/C564487|https://omim.org/entry/300555|Orphanet:93623|UMLS:C1845167|UMLS:C4305529|http://identifiers.org/snomedct/717790004	ordo_clinical_subtype
MONDO:0009369	biolink:Disease	non-immune hydrops fetalis	Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders.	ICD9:778.0|Orphanet:363999|EFO:0009051|NCIT:C111905|OMIM:236750|SCTID:276509008|UMLS:C0455988	mondo.json	non-immune fetal edema|non-immune HF|hydrops fetalis, nonimmune|NIHF|non-immune fetal hydrops|Hemoglobin H hydrops fetalis syndrome|hydrops fetalis, Alpha-thalassemia-related	http://purl.obolibrary.org/obo/MONDO_0009369	NCIT:C111905|http://identifiers.org/snomedct/276509008|Orphanet:363999|https://omim.org/entry/236750|UMLS:C0455988	ordo_clinical_subtype
MONDO:0009368	biolink:Disease	urofacial syndrome type 1		OMIM:236730	mondo.json	urofacial syndrome 1|hydronephrosis with peculiar Facial expression|Ochoa syndrome|inverted smile and occult neuropathic bladder|facial palsy, partial, with urinary abnormalities|urofacial syndrome|UFS1|urofacial syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0009368	https://omim.org/entry/236730	
MONDO:0009367	biolink:Disease	McKusick-Kaufman syndrome	McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.	OMIM:236700|GARD:0003427|Orphanet:2473|MESH:C538159|UMLS:C0948368|DOID:0111255|SCTID:702407009|ICD9:758.89|MedDRA:10052312	mondo.json	HMCS|MKKS|MCKUSICK-Kaufman syndrome|McKusick-Kaufman syndrome|hydrometrocolpos, postaxial polydactyly, and congenital heart malformation|Kaufman-Mckusick syndrome|Kaufman McKusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome|hydrometrocolpos syndrome|McKusick Kaufman syndrome	http://purl.obolibrary.org/obo/MONDO_0009367	UMLS:C0948368|Orphanet:2473|DOID:0111255|https://omim.org/entry/236700|http://identifiers.org/snomedct/702407009|http://identifiers.org/mesh/C538159	ordo_malformation_syndrome|gard_rare
OBO:mondo#disease_causes_feature	biolink:NamedThing	disease causes feature			mondo.json		http://purl.obolibrary.org/obo/mondo#disease_causes_feature		
MONDO:0009366	biolink:Disease	normal pressure hydrocephalus	A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)	ICD9:331.5|DOID:1572|MedDRA:10029773|EFO:1001065|OMIM:236690|UMLS:C0020258|Orphanet:314928|SCTID:30753002|MESH:D006850	mondo.json	low pressure hydrocephalus|hydrocephalus, normal-pressure|hydrocephalus, normal pressure, 1|NPH|chronic adult hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0009366	https://omim.org/entry/236690|Orphanet:314928|DOID:1572|http://identifiers.org/mesh/D006850|UMLS:C0020258|http://identifiers.org/snomedct/30753002	ordo_disease
MONDO:0009365	biolink:Disease	hydrolethalus syndrome 1	Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene.	UMLS:C1856016|OMIM:236680|DOID:0111355|MESH:C565504	mondo.json	HYLS1 hydrolethalus syndrome|hydrolethalus syndrome caused by mutation in HYLS1|hydrolethalus syndrome|hydrolethalus syndrome 1|HLS1|hydrolethalus syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0009365	UMLS:C1856016|DOID:0111355|http://identifiers.org/mesh/C565504|https://omim.org/entry/236680	
MONDO:0009364	biolink:Disease	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death.	Orphanet:899|UMLS:CN033898|OMIM:236670|DOID:0111237|UMLS:C4284790|Orphanet:588|NCIT:C128118	mondo.json	hard syndrome|Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1|cod-MD syndrome|MDDGA1|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1|cerebroocular dysplasia-muscular dystrophy syndrome|muscle-eye-brain-POMT1 related|hydrocephalus, agyria, and retinal dysplasia	http://purl.obolibrary.org/obo/MONDO_0009364	UMLS:CN033898|NCIT:C128118|DOID:0111237|UMLS:C4284790|https://omim.org/entry/236670	
MONDO:0010363	biolink:Disease	intellectual disability, X-linked 91	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZDHHC15 gene.	MESH:C564482|OMIM:300577|UMLS:C1845142	mondo.json	ZDHHC15 non-syndromic X-linked intellectual disability|MRX91|mental retardation, X-linked 91|intellectual disability, X-linked type 91|mental retardation, X-linked 91, X-linked dominant|mental retardation, X-linked type 91|non-syndromic X-linked intellectual disability caused by mutation in ZDHHC15|intellectual disability, X-linked 91	http://purl.obolibrary.org/obo/MONDO_0010363	https://omim.org/entry/300577|UMLS:C1845142|http://identifiers.org/mesh/C564482	
MONDO:0009363	biolink:Disease	hydrocephaly-tall stature-joint laxity syndrome	Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.	SCTID:732926009|Orphanet:2181|GARD:0001666|OMIM:236660|UMLS:C1856051|MESH:C535770	mondo.json	Daish-Hardman-Lamont syndrome|Daish Hardman Lamont syndrome|hydrocephaly - tall stature - joint laxity|hydrocephalus, tall stature, JOINT laxity, and kyphoscoliosis|hydrocephalus, tall stature, joint laxity and kyphoscoliosis	http://purl.obolibrary.org/obo/MONDO_0009363	UMLS:C1856051|http://identifiers.org/snomedct/732926009|https://omim.org/entry/236660|http://identifiers.org/mesh/C535770|Orphanet:2181	ordo_malformation_syndrome
HGNC:11566	biolink:NamedThing	TAPBP			mondo.json		http://identifiers.org/hgnc/11566		
MONDO:0010362	biolink:Disease	glycogen storage disease IXd	A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness.	OMIM:300559|Orphanet:715|GARD:0003858|DOID:0111040|MESH:C564485	mondo.json	GSD due to muscle phosphorylase kinase deficiency|glycogenosis type IXd|GSD type 9D|glycogenosis type 9D|glycogen storage disease due to muscle phosphorylase kinase deficiency|glycogen storage disease type 9D|GSD type IXd|muscle glycogenosis, X-linked recessive|GSD IXd|GSD Vb|GSD9D|muscle phosphorylase kinase deficiency|PHKA1-related glycogen storage disease type IX|PHKA1 glycogen storage disease|glycogen storage disease, type IXd|muscular phosphorylase kinase deficiency|glycogen storage disease caused by mutation in PHKA1|glycogenosis due to muscle phosphorylase kinase deficiency|glycogen storage disease type IXd|muscle glycogenosis, X-linked	http://purl.obolibrary.org/obo/MONDO_0010362	https://omim.org/entry/300559|DOID:0111040|Orphanet:715|http://identifiers.org/mesh/C564485	gard_rare|ordo_disease
MONDO:0009362	biolink:Disease	growth delay-hydrocephaly-lung hypoplasia syndrome	Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.	OMIM:236640|UMLS:C1856052|Orphanet:3035|MESH:C535406|GARD:0002427|SCTID:716198008	mondo.json	retarded growth, hydrocephalus, micrognathia, intestinal malrotation, omphalocele, short lower limbs and foot deformities|game Friedman Paradice syndrome|game-Friedman-Paradice syndrome|hydrocephalus with associated malformations	http://purl.obolibrary.org/obo/MONDO_0009362	http://identifiers.org/mesh/C535406|https://omim.org/entry/236640|Orphanet:3035|http://identifiers.org/snomedct/716198008|UMLS:C1856052	ordo_malformation_syndrome
MONDO:0010365	biolink:Disease	myopathy, congenital, with fiber-type disproportion, X-linked		OMIM:300580|DOID:0111226|MESH:C567594|UMLS:C2749128	mondo.json	myopathy, congenital, with fiber-type disproportion, X-linked|myopathy, congenital, with fiber-type disproportion, X-linked, X-linked dominant|CFTDX	http://purl.obolibrary.org/obo/MONDO_0010365	https://omim.org/entry/300580|http://identifiers.org/mesh/C567594|UMLS:C2749128|DOID:0111226	
MONDO:0009361	biolink:Disease	autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius		UMLS:CN074258|OMIM:236635	mondo.json	aqueductal stenosis|hydrocephalus due to congenital stenosis of aqueduct of Sylvius	http://purl.obolibrary.org/obo/MONDO_0009361	https://omim.org/entry/236635|UMLS:CN074258	
MONDO:0010364	biolink:Disease	X-linked intellectual disability-retinitis pigmentosa syndrome	X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.	OMIM:300578|UMLS:C0795873|Orphanet:85332|ICD10CM:H35.5|SCTID:719808002|GARD:0008360	mondo.json	retinitis pigmentosa and intellectual disability due to del(X)(p11.3)|chromosome Xp11.3 deletion syndrome|Aldred syndrome|nonspecific mental retardation associated with retinitis pigmentosa|mental retardation, X-linked, with retinitis pigmentosa|nonspecific intellectual disability associated with retinitis pigmentosa|retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion|X-linked mental handicap-retinitis pigmentosa syndrome|chromosome xp11.3 deletion syndrome, X-linked recessive|retinitis pigmentosa and intellectual disability due to monosomy Xp11.3|intellectual disability, X-linked, with retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0010364	https://omim.org/entry/300578|http://identifiers.org/snomedct/719808002|Orphanet:85332|UMLS:C0795873	ordo_disease
MONDO:0009360	biolink:Disease	hydrocephalus, nonsyndromic, autosomal recessive 1	Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene.	UMLS:C3887608|GARD:0006682|OMIM:236600	mondo.json	CCDC88C congenital hydrocephalus|HYC1|hydrocephaly|hydrocephalus, nonsyndromic, autosomal recessive 1|ventriculomegaly|congenital hydrocephalus caused by mutation in CCDC88C|hydrocephalus, congenital, 1|hydrocephalus, nonsyndromic, autosomal recessive type 1	http://purl.obolibrary.org/obo/MONDO_0009360	UMLS:C3887608|https://omim.org/entry/236600	
MONDO:0010367	biolink:Disease	SHOX-related short stature	SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never.	Orphanet:314795|MESH:C564479|EFO:0008989|SCTID:763868006|OMIM:300582	mondo.json	short stature, idiopathic, X-linked|short stature, idiopathic familial|ISS	http://purl.obolibrary.org/obo/MONDO_0010367	http://identifiers.org/mesh/C564479|Orphanet:314795|https://omim.org/entry/300582|http://identifiers.org/snomedct/763868006	ordo_disease
MONDO:0010366	biolink:Disease	FG syndrome 5		OMIM:300581|MESH:C564480|UMLS:C1845119	mondo.json	FGS5|FG syndrome 5	http://purl.obolibrary.org/obo/MONDO_0010366	http://identifiers.org/mesh/C564480|https://omim.org/entry/300581|UMLS:C1845119	
MONDO:0010369	biolink:Disease	nystagmus 5, congenital, X-linked		OMIM:300589|UMLS:C1845116	mondo.json	NYS5|nystagmus 5, congenital, X-linked, X-linked dominant|NYSTAGMUS 5, congenital, X-linked	http://purl.obolibrary.org/obo/MONDO_0010369	https://omim.org/entry/300589|UMLS:C1845116	
MONDO:0010368	biolink:Disease	immunodeficiency without anhidrotic ectodermal dysplasia		MESH:C536289|UMLS:C1845117|GARD:0009917|OMIM:300584	mondo.json	immunodeficiency, isolated|immunodeficiency, Pure|immunodeficiency without anhidrotic ectodermal dysplasia	http://purl.obolibrary.org/obo/MONDO_0010368	https://omim.org/entry/300584|UMLS:C1845117|http://identifiers.org/mesh/C536289	gard_rare
MONDO:0022338	biolink:Disease	ALK+ histiocytosis		GARD:0010577	mondo.json	anaplastic lymphoma kinase positive histiocytosis	http://purl.obolibrary.org/obo/MONDO_0022338		gard_rare
MONDO:0036990	biolink:Disease	benign Leydig cell tumor	A Leydig cell tumor which does not recur or metastasize. Morphologically, there is no evidence of cellular atypia, increased mitotic activity, necrosis, or vascular invasion.	ICDO:8650/0|UMLS:C0334409|NCIT:C4212	mondo.json	Leydig cell tumor, benign|benign interstitial cell neoplasm|benign interstitial cell tumor|adenoma, interstitial|benign Leydig cell tumor|benign Leydig cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0036990	NCIT:C4212|UMLS:C0334409	
MONDO:0010361	biolink:Disease	intellectual disability, X-linked 30	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene.	OMIM:300558|UMLS:C0796237	mondo.json	mental retardation, X-linked 47|intellectual disability, X-linked type 30|intellectual disability, X-linked 47|non-syndromic X-linked intellectual disability caused by mutation in PAK3|MRX30|mental retardation, X-linked 30|PAK3 non-syndromic X-linked intellectual disability|intellectual disability, X-linked 30|mental retardation, X-linked type 30|intellectual developmental disorder, X-linked 30, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0010361	https://omim.org/entry/300558|UMLS:C0796237	
MONDO:0010360	biolink:Disease	parkinson disease 12		OMIM:300557|MESH:C564486|UMLS:C1845165	mondo.json	Parkinson disease, X-linked|PARK12|Parkinson disease 12	http://purl.obolibrary.org/obo/MONDO_0010360	https://omim.org/entry/300557|UMLS:C1845165|http://identifiers.org/mesh/C564486	
MONDO:0022330	biolink:Disease	4-hydroxyphenylacetic aciduria		GARD:0008155|MESH:C535315	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022330	http://identifiers.org/mesh/C535315	gard_rare
MONDO:0022333	biolink:Disease	5-nucleotidase syndrome		UMLS:C2930876|MESH:C535321|GARD:0008242	mondo.json	5'NT syndrome|5'-Nucleotidase syndrome	http://purl.obolibrary.org/obo/MONDO_0022333	http://identifiers.org/mesh/C535321|UMLS:C2930876	gard_rare
NCBITaxon:41705	biolink:OrganismalEntity	Protacanthopterygii		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_41705		
MONDO:0024996	biolink:Disease	obsolete Usher syndrome, type 2b		GARD:0005441|OMIM:276905	mondo.json	USH2B|US2B	http://purl.obolibrary.org/obo/MONDO_0024996	https://omim.org/entry/276905	gard_rare
NCBITaxon:111527	biolink:OrganismalEntity	pseudomallei group		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_111527		
MONDO:0022337	biolink:Disease	AIDS dysmorphic syndrome		GARD:0005765	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022337		gard_rare
MONDO:0010349	biolink:Disease	ovarian dysgenesis 2	Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene.	MESH:C564499|DOID:0080494|UMLS:C1845294|OMIM:300510	mondo.json	ovarian dysgenesis 2|ovarian dysgenesis, hypergonadotropic, X-linked|BMP15 primary ovarian failure|ovarian dysgenesis type 2|primary ovarian failure caused by mutation in BMP15|premature ovarian failure 4|ODG2|ovarian failure, hypergonadotropic, due to ovarian dysgenesis	http://purl.obolibrary.org/obo/MONDO_0010349	DOID:0080494|http://identifiers.org/mesh/C564499|https://omim.org/entry/300510|UMLS:C1845294	
MONDO:0010348	biolink:Disease	dyslexia, susceptibility to, 9		OMIM:300509	mondo.json	dyslexia, susceptibility to, 9|DYX9	http://purl.obolibrary.org/obo/MONDO_0010348	https://omim.org/entry/300509	predisposition
MONDO:0009379	biolink:Disease	Rotor syndrome	Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.	OMIM:237450|MedDRA:10039234|UMLS:C0220991|Orphanet:3111|GARD:0000218|SCTID:32891000	mondo.json	hyperbilirubinemia, rotor type, digenic|hyperbilirubinemia, ROTOR type|hyperbilirubinemia, Rotor type|Rotor-type hyperbilirubinemia|Rotor syndrome|HBLRR	http://purl.obolibrary.org/obo/MONDO_0009379	https://omim.org/entry/237450|UMLS:C0220991|Orphanet:3111|http://identifiers.org/snomedct/32891000	gard_rare|ordo_disease
MONDO:0009378	biolink:Disease	hyper-beta-alaninemia	Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case.	MESH:C562684|Orphanet:309147|ICD9:270.8|GARD:0010267|UMLS:C0268630|SCTID:2359002|OMIM:237400	mondo.json	hyperbetaalaninemia|hyperalaninemia|hyper-beta-alaninemia	http://purl.obolibrary.org/obo/MONDO_0009378	https://omim.org/entry/237400|Orphanet:309147|http://identifiers.org/mesh/C562684|UMLS:C0268630|http://identifiers.org/snomedct/2359002	ordo_disease|gard_rare
MONDO:0009377	biolink:Disease	hyperammonemia due to N-acetylglutamate synthase deficiency	N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia.	MESH:C536109|Orphanet:927|OMIM:237310|SCTID:57119000|GARD:0007158|NCIT:C129307	mondo.json	NAGS deficiency|hyperammonemia due to N-acetylglutamate synthetase deficiency|NAGSD|N-acetylglutamate synthetase deficiency|N-acetylglutamate synthase deficiency|N-acetyl glutamate synthetase deficiency|hyperammonemia due to N-acetylglutamate synthase deficiency|NAG synthetase deficiency|Nags deficiency	http://purl.obolibrary.org/obo/MONDO_0009377	NCIT:C129307|http://identifiers.org/mesh/C536109|https://omim.org/entry/237310|Orphanet:927|http://identifiers.org/snomedct/57119000	ordo_disease
MONDO:0009376	biolink:Disease	carbamoyl phosphate synthetase I deficiency disease	Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.	EFO:0007193|OMIM:237300|NCIT:C84612|MESH:D020165|MedDRA:10058297|GARD:0007269|DOID:9280|Orphanet:147|SCTID:62522004	mondo.json	carbamoyl-phosphate synthetase I deficiency|carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to|CPS1 deficiency|carbamoyl phosphate synthetase 1 deficiency|carbamoyl-phosphate synthase|carbamyl phosphate synthetase (CPS) deficiency|carbamoylphosphate synthetase I deficiency|carbamoyl-phosphate synthetase deficiency|carbamoyl phosphate synthetase I deficiency disease|CPS 1 deficiency|carbamoyl phosphate synthetase I deficiency, hyperammonemia due to|carbamoyl phosphate synthetase deficiency|CPS I deficiency|hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency|carbamoyl-phosphate synthetase 1 deficiency|deficiency disease|CPS1D	http://purl.obolibrary.org/obo/MONDO_0009376	Orphanet:147|https://omim.org/entry/237300|http://identifiers.org/snomedct/62522004|DOID:9280|http://identifiers.org/mesh/D020165|NCIT:C84612	ordo_disease
NCBITaxon:111520	biolink:OrganismalEntity	Penaeoidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_111520		
MONDO:0009375	biolink:Disease	hymen, imperforate		MESH:C562397|OMIM:237100|SCTID:65937002|ICD10CM:Q52.3|ICD9:752.42	mondo.json	hymen, imperforate	http://purl.obolibrary.org/obo/MONDO_0009375	https://omim.org/entry/237100|http://identifiers.org/mesh/C562397|http://identifiers.org/snomedct/65937002|http://purl.bioontology.org/ontology/ICD10CM/Q52.3	
MONDO:0024990	biolink:Disease	swine disease	Diseases of domestic swine and of the wild boar of the genus Sus.	MESH:D013553|UMLS:C0039006	mondo.json	diseases, swine|swine disease|disease, swine	http://purl.obolibrary.org/obo/MONDO_0024990	UMLS:C0039006|http://identifiers.org/mesh/D013553	
MONDO:0009374	biolink:Disease	hydroxyprolinemia		HP:0003260|ICD9:270.8|UMLS:C0268531|OMIM:237000|GARD:0010717|MESH:C562669|SCTID:25739007	mondo.json	4 alpha hydroxy-L-proline oxidase deficiency|Hydroxyprolinemia|hydroxyprolinemia (disease)|HYDROXYPROLINEMIA|4-hydroxy-L-proline oxidase deficiency|hydroxyprolinemia	http://purl.obolibrary.org/obo/MONDO_0009374	http://identifiers.org/snomedct/25739007|http://identifiers.org/mesh/C562669|UMLS:C0268531|https://omim.org/entry/237000	mostly_harmless
HGNC:11577	biolink:NamedThing	TAFAZZIN			mondo.json		http://identifiers.org/hgnc/11577		
MONDO:0010352	biolink:Disease	intellectual disability, X-linked 82		OMIM:300518|UMLS:C1845286|MESH:C564496	mondo.json	mental retardation, X-linked 82, X-linked recessive|intellectual disability, X-linked 82|MRX82|mental retardation, X-linked 82	http://purl.obolibrary.org/obo/MONDO_0010352	http://identifiers.org/mesh/C564496|https://omim.org/entry/300518|UMLS:C1845286	
MONDO:0009373	biolink:Disease	seizures-intellectual disability due to hydroxylysinuria syndrome	Seizures-intellectual disability due to hydroxylysinuria syndrome is characterised by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient.	Orphanet:79156|OMIM:236900|UMLS:C1855986|MESH:C565502	mondo.json	hydroxylysinuria	http://purl.obolibrary.org/obo/MONDO_0009373	http://identifiers.org/mesh/C565502|Orphanet:79156|UMLS:C1855986|https://omim.org/entry/236900	ordo_disease
MONDO:0010351	biolink:Disease	Fanconi anemia complementation group B	Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.	NCIT:C125703|DOID:0111098|UMLS:C1845292|OMIM:300514|MESH:C564497	mondo.json	Fanconi pancytopenia type 2|FA2|Fanconi pancytopenia, type 2|Fanconi anemia complementation group type B|FANCB|FACB|Fanconi anemia complementation group B|Fanconi anemia, complementation group B, X-linked recessive|Fanconi anemia, complementation group B|Fanconi Anemia, complementation group type B	http://purl.obolibrary.org/obo/MONDO_0010351	https://omim.org/entry/300514|NCIT:C125703|UMLS:C1845292|DOID:0111098|http://identifiers.org/mesh/C564497	
MONDO:0010354	biolink:Disease	Allan-Herndon-Dudley syndrome	A syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.	MESH:C537047|SCTID:702327009|OMIM:300523|Orphanet:59|GARD:0005617|UMLS:C0795889|NCIT:C118843|DOID:0050631	mondo.json	T3 resistance|X-linked intellectual disability with hypotonia|MCT8 deficiency|Allan-Herndon syndrome|monocarboxylate transporter-8 deficiency|mental retardation, X-linked, with hypotonia|MCT8-specific thyroid hormone cell Membrane transporter deficiency|intellectual disability, X-linked, with hypotonia|monocarboxylate transporter 8 deficiency|X-linked intellectual disability-hypotonia syndrome|ALLAN-Herndon-DUDLEY syndrome|triiodothyronine resistance|ALLAN-Herndon syndrome|intellectual disability and muscular atrophy|Allan-Herndon-Dudley syndrome|T3 resisitence|mental retardation and muscular atrophy|AHDS|triiodothyronine resistence	http://purl.obolibrary.org/obo/MONDO_0010354	https://omim.org/entry/300523|Orphanet:59|http://identifiers.org/snomedct/702327009|NCIT:C118843|http://identifiers.org/mesh/C537047|UMLS:C0795889|DOID:0050631	gard_rare|ordo_clinical_subtype
MONDO:0009372	biolink:Disease	encephalopathy due to hydroxykynureninuria	Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway.	Orphanet:79155|UMLS:C0268474|ICD9:270.2|SCTID:72945002|OMIM:236800|GARD:0010039|MESH:C536081	mondo.json	kynureninase deficiency, partial|kynureninase deficiency|Xanthurenic aciduria|hydroxykynureninuria	http://purl.obolibrary.org/obo/MONDO_0009372	Orphanet:79155|http://identifiers.org/snomedct/72945002|https://omim.org/entry/236800|UMLS:C0268474|http://identifiers.org/mesh/C536081	ordo_disease
MONDO:0010353	biolink:Disease	deafness-intellectual disability, Martin-Probst type syndrome	A syndrome characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.	MESH:C564495|Orphanet:85321|DOID:0060830|OMIM:300519|SCTID:721087008	mondo.json	intellectual disability, X-linked, syndromic, Martin-Probst type|MRXSMP|mental retardation, X-linked, syndromic, MARTIN-Probst type|Martin-Probst syndrome|martin-probst syndrome, X-linked recessive|Martin-Probst deafness-intellectual disability syndrome|intellectual disability, X-linked, syndromic, MARTIN-Probst type|Martin-Probst deafness-mental retardation syndrome|deafness-intellectual disability syndrome, Martin-Probst type|mental retardation, X-linked, syndromic, Martin-Probst type|X-linked deafness-intellectual disability syndrome syndrome	http://purl.obolibrary.org/obo/MONDO_0010353	http://identifiers.org/mesh/C564495|https://omim.org/entry/300519|DOID:0060830|http://identifiers.org/snomedct/721087008|Orphanet:85321	ordo_malformation_syndrome
MONDO:0009371	biolink:Disease	3-hydroxyisobutyric aciduria	3 hydroxyisobutyric aciduria is characterised by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive.	UMLS:C0342737|Orphanet:939|MESH:C535312|GARD:0005662|ICD9:791.9|SCTID:237957007|OMIM:236795	mondo.json	disorder of valine metabolism|3-hydroxyisobutyric aciduria	http://purl.obolibrary.org/obo/MONDO_0009371	http://identifiers.org/mesh/C535312|Orphanet:939|https://omim.org/entry/236795|UMLS:C0342737|http://identifiers.org/snomedct/237957007	ordo_disease|gard_rare
MONDO:0009370	biolink:Disease	L-2-hydroxyglutaric aciduria	L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.	UMLS:C1855995|OMIM:236792|DOID:0050574|GARD:0010472|Orphanet:79314|UMLS:C3888081|SCTID:237961001	mondo.json	L-2-HGA|L-2-hydroxyglutaric aciduria|L2HGA|L-2-hydroxyglutaric acidemia	http://purl.obolibrary.org/obo/MONDO_0009370	DOID:0050574|Orphanet:79314|UMLS:C1855995|http://identifiers.org/snomedct/237961001|https://omim.org/entry/236792|UMLS:C3888081	ordo_disease|gard_rare
MONDO:0010356	biolink:Disease	nephrogenic syndrome of inappropriate antidiuresis	Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.	UMLS:C1845202|OMIM:300539|Orphanet:93606|MESH:C564491|SCTID:723440000	mondo.json	NSIAD|nephrogenic syndrome of inappropriate antidiuresis, X-linked recessive|nephrogenic syndrome of inappropriate antidiuresis	http://purl.obolibrary.org/obo/MONDO_0010356	http://identifiers.org/snomedct/723440000|http://identifiers.org/mesh/C564491|https://omim.org/entry/300539|Orphanet:93606|UMLS:C1845202	ordo_disease
MONDO:0010355	biolink:Disease	syndromic X-linked intellectual disability Claes-Jensen type		UMLS:C1845243|DOID:0060809|MESH:C564494|UMLS:C4304915|SCTID:719161008|Orphanet:85279|OMIM:300534	mondo.json	mental retardation, X-linked, syndromic, JARID1C-related|intellectual disability, X-linked, syndromic, JARID1C-related|mental retardation, X-linked, syndromic, Claes-Jensen type|MRXSJ|intellectual disability, X-linked, syndromic, Claes-Jensen type|syndromic X-linked intellectual disability Claes-Jensen type|syndromic X-linked intellectual disability due to JARID1C mutation|intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, X-linked recessive|syndromic X-linked mental retardation JARID1C-related|MRXSCJ|syndromic X-linked intellectual disability JARID1C-related	http://purl.obolibrary.org/obo/MONDO_0010355	UMLS:C4304915|http://identifiers.org/mesh/C564494|https://omim.org/entry/300534|DOID:0060809|http://identifiers.org/snomedct/719161008|UMLS:C1845243|Orphanet:85279	ordo_malformation_syndrome
MONDO:0010358	biolink:Disease	hypophosphatemic rickets, X-linked recessive	Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene.	DOID:0080353|OMIM:300554|Orphanet:93622|Orphanet:1652	mondo.json	hypophosphatemic rickets, X-linked recessive|X-linked hypophosphatemic rickets caused by mutation in CLCN5|CLCN5 X-linked hypophosphatemic rickets	http://purl.obolibrary.org/obo/MONDO_0010358	https://omim.org/entry/300554|DOID:0080353	
MONDO:0010357	biolink:Disease	obsolete MRX78		OMIM:300551	mondo.json		http://purl.obolibrary.org/obo/MONDO_0010357	https://omim.org/entry/300551	
HGNC:11573	biolink:NamedThing	TAT			mondo.json		http://identifiers.org/hgnc/11573		
MONDO:0010350	biolink:Disease	premature ovarian failure 2A	Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene.	UMLS:C1845293|OMIM:300511|MESH:C564498	mondo.json	primary ovarian failure caused by mutation in DIAPH2|premature ovarian failure type 2A|premature ovarian failure 2A, X-linked dominant|DIAPH2 primary ovarian failure|POF2A|premature ovarian failure 2A	http://purl.obolibrary.org/obo/MONDO_0010350	https://omim.org/entry/300511|UMLS:C1845293|http://identifiers.org/mesh/C564498	
HGNC:11571	biolink:NamedThing	TARDBP			mondo.json		http://identifiers.org/hgnc/11571		
MONDO:0024982	biolink:Disease	salmonella infections, animal	Infections in animals with bacteria of the genus salmonella.	MESH:D012481|UMLS:C0036118	mondo.json	animal Salmonella infections|animal Salmonella infection|Salmonella infection, animal|infections, animal Salmonella|infection, animal Salmonella	http://purl.obolibrary.org/obo/MONDO_0024982	UMLS:C0036118|http://identifiers.org/mesh/D012481	
MONDO:0024981	biolink:Disease	rodent disease	Diseases of rodents of the order rodentia. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs).	UMLS:C0035801|MESH:D012376	mondo.json	rodent disease|disease, Rodent|diseases, Rodent	http://purl.obolibrary.org/obo/MONDO_0024981	UMLS:C0035801|http://identifiers.org/mesh/D012376	
MONDO:0022321	biolink:Disease	2-methylacetoacetyl CoA thiolase deficiency		UMLS:C2930874|MESH:C535307|GARD:0008382	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022321	http://identifiers.org/mesh/C535307|UMLS:C2930874	gard_rare
MONDO:0022323	biolink:Disease	2-hydroxyethyl methacrylate sensitization		MESH:C535305|GARD:0008635|UMLS:C2930873	mondo.json	sensitization to 2-hydroxyethyl methacrylate|2-HEMA sensitization	http://purl.obolibrary.org/obo/MONDO_0022323	http://identifiers.org/mesh/C535305|UMLS:C2930873	gard_rare
MONDO:0024985	biolink:Disease	sheep disease	Diseases of domestic and mountain sheep of the genus Ovis.	UMLS:C0036946|MESH:D012757	mondo.json	diseases, sheep|Ovine diseases|diseases, Ovine|sheep disease|disease, sheep|disease, Ovine|Ovine disease	http://purl.obolibrary.org/obo/MONDO_0024985	http://identifiers.org/mesh/D012757|UMLS:C0036946	
MONDO:0024988	biolink:Disease	sex cord-stromal benign neoplasm	A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts.	DOID:0080368	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024988	DOID:0080368	
MONDO:0024987	biolink:Disease	obsolete genetic urogenital tract malformation		Orphanet:156622	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024987	Orphanet:156622	
MONDO:0022326	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0022326		
MONDO:0010338	biolink:Disease	X-linked distal spinal muscular atrophy type 3	X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.	DOID:0111196|Orphanet:139557|SCTID:766764008|MESH:C564506|OMIM:300489|UMLS:C1845359	mondo.json	spinal muscular atrophy caused by mutation in ATP7A|DSMAX|spinal muscular atrophy, distal, X-linked recessive|X-linked distal hereditary motor neuropathy type 3|spinal muscular atrophy, distal, X-linked type 3|X-linked dSMA3|spinal muscular atrophy, distal, X-linked 3|X-linked dHMN3|SMAX3|Dsmax|ATP7A-related distal motor neuropathy|X-linked dSMA type 3|ATP7A spinal muscular atrophy|spinal muscular atrophy, distal, X-linked 3, X-linked recessive|X-linked dHMN type 3	http://purl.obolibrary.org/obo/MONDO_0010338	http://identifiers.org/snomedct/766764008|DOID:0111196|http://identifiers.org/mesh/C564506|https://omim.org/entry/300489|Orphanet:139557|UMLS:C1845359	ordo_disease
MONDO:0009349	biolink:Disease	holoprosencephaly 1	The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22.	DOID:0110881|NCIT:C75476|Orphanet:268936|OMIM:236100	mondo.json	isolated arhinencephaly|holoprosencephaly 1, isolated cases|arhinencephaly|holoprosencephaly 1|Hpe, familial|HPE1|Demyer sequence|holoprosencephaly type 1|cyclopia|holoprosencephaly, familial Alobar	http://purl.obolibrary.org/obo/MONDO_0009349	Orphanet:268936|NCIT:C75476|https://omim.org/entry/236100|DOID:0110881	ordo_morphological_anomaly
MONDO:0010337	biolink:Disease	X-linked intellectual disability-cerebellar hypoplasia syndrome	X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.	DOID:0080311|GARD:0009947|SCTID:719136005|MESH:C537456|Orphanet:137831|GARD:0013093|OMIM:300486	mondo.json	intellectual disability x-linked 60 (formerly)|OPHN1 XLMR|OPHN1 deficiency|intellectual disability, X-linked 60|mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance|OPHN1 XLMR, X-linked intellectual disability|MRX60 (formerly)|mental retardation, X-linked 60, formerly|mental retardation, X-linked 60|intellectual developmental disorder, X-linked syndromic, Billuart type, X-linked recessive|mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance|X-linked intellectual Deficit with cerebellar Hypoplasia|intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance|mental retardation x-linked 60 (formerly)|X-linked intellectual disability-cerebellar hypoplasia syndrome|Oligophrenin-1 syndrome|OPHN1 syndrome|intellectual disability x-linked with cerebellar hypoplasia and distinctive facial appearance|OPHN1- related XLID|intellectual disability, X-linked 60, formerly	http://purl.obolibrary.org/obo/MONDO_0010337	Orphanet:137831|DOID:0080311|http://identifiers.org/mesh/C537456|http://identifiers.org/snomedct/719136005|https://omim.org/entry/300486	gard_rare|ordo_disease
MONDO:0009348	biolink:Disease	classic Hodgkin lymphoma	Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells.	OMIM:400021|ONCOTREE:CHL|UMLS:CN204952|Orphanet:391|OMIM:236000|NCIT:C7164|OMIM:300221	mondo.json	Hodgkin lymphoma, susceptibility to|classic Hodgkin disease|classical Hodgkin's lymphoma|Hodgkin disease|lymphoma, Hodgkin, classic|Chl|classical Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0009348	UMLS:CN204952|Orphanet:391|https://omim.org/entry/236000|NCIT:C7164	ordo_disease
MONDO:0009347	biolink:Disease	familial lipochrome histiocytosis		OMIM:235900|UMLS:C0334125|SCTID:234577004|MESH:C562738	mondo.json	histiocytosis, familial lipochrome	http://purl.obolibrary.org/obo/MONDO_0009347	http://identifiers.org/mesh/C562738|UMLS:C0334125|http://identifiers.org/snomedct/234577004|https://omim.org/entry/235900	
MONDO:0012999	biolink:Disease	guanidinoacetate methyltransferase deficiency	Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.	DOID:0050799|GARD:0002578|SCTID:124239003|MESH:C537622|OMIM:612736|Orphanet:382|UMLS:C0574080|ICD9:277.6	mondo.json	creatine deficiency syndrome due to GAMT deficiency|CCDS2|guanidinoacetate methyltransferase deficiency|GAMT deficiency|disorder of guanidinoacetate N-methyltransferase activity|cerebral creatine deficiency syndrome 2|cerebral creatine deficiency syndrome type 2|guanidinoacetate N-methyltransferase activity disease	http://purl.obolibrary.org/obo/MONDO_0012999	http://identifiers.org/mesh/C537622|Orphanet:382|DOID:0050799|UMLS:C0574080|http://identifiers.org/snomedct/124239003|https://omim.org/entry/612736	ordo_disease|gard_rare
MONDO:0010339	biolink:Disease	X-linked epilepsy-learning disabilities-behavior disorders syndrome	X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).	UMLS:C1845343|OMIM:300491|MESH:C564505|Orphanet:85294	mondo.json	epilepsy, X-linked, with variable learning disabilities and behavior disorders, X-linked recessive, X-linked dominant|X-linked epilepsy-learning disabilities-behavior disorders syndrome|epilepsy, X-linked, with variable learning disabilities and behavior disorders	http://purl.obolibrary.org/obo/MONDO_0010339	UMLS:C1845343|Orphanet:85294|http://identifiers.org/mesh/C564505|https://omim.org/entry/300491	ordo_disease
MONDO:0009346	biolink:Disease	histidinuria due to a renal tubular defect		Orphanet:2158|MESH:C538321|UMLS:C0268642|OMIM:235830|GARD:0002708	mondo.json	histidinuria-renal tubular defect syndrome|histidinuria due to a renal tubular defect	http://purl.obolibrary.org/obo/MONDO_0009346	UMLS:C0268642|Orphanet:2158|http://identifiers.org/mesh/C538321|https://omim.org/entry/235830	ordo_disease
HGNC:11538	biolink:NamedThing	TAF4B			mondo.json		http://identifiers.org/hgnc/11538		
MONDO:0009345	biolink:Disease	histidinemia	Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.	MESH:C538320|GARD:0006661|SCTID:410058007|OMIM:235800|Orphanet:2157|UMLS:C0220992|DOID:0060168|ICD10CM:E70.41	mondo.json	histidase deficiency|histidinemia|HIS deficiency|Histidinuria|Hal deficiency|histidinuria|hyperhistidinemia|histidine ammonia-lyase deficiency	http://purl.obolibrary.org/obo/MONDO_0009345	Orphanet:2157|http://identifiers.org/snomedct/410058007|http://identifiers.org/mesh/C538320|DOID:0060168|http://purl.bioontology.org/ontology/ICD10CM/E70.41|https://omim.org/entry/235800|UMLS:C0220992	ordo_disease|mostly_harmless|gard_rare
MONDO:0009344	biolink:Disease	Hirschsprung disease-nail hypoplasia-dysmorphism syndrome	Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988.	Orphanet:2153|SCTID:721223002|MESH:C535615|OMIM:235760|GARD:0000584	mondo.json	Hirschsprung disease with hypoplastic nails and dysmorphic facial features|Al-Gazali-Donnai-Mueller syndrome|Al Gazali-Donnai-Muller syndrome|Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features	http://purl.obolibrary.org/obo/MONDO_0009344	Orphanet:2153|http://identifiers.org/mesh/C535615|https://omim.org/entry/235760|http://identifiers.org/snomedct/721223002	ordo_malformation_syndrome
MONDO:0009343	biolink:Disease	Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect		MESH:C538120|OMIM:235750|UMLS:C1856111|GARD:0002696|MESH:C565517	mondo.json	Hirschsprung disease polydactyly heart disease|Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect	http://purl.obolibrary.org/obo/MONDO_0009343	http://identifiers.org/mesh/C538120|UMLS:C1856111|http://identifiers.org/mesh/C565517|https://omim.org/entry/235750	gard_rare
MONDO:0009342	biolink:Disease	Hirschsprung disease-hearing loss-polydactyly syndrome	An extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.	Orphanet:2155|SCTID:721221000|OMIM:235740|GARD:0000157|MESH:C565518	mondo.json	Hirschsprung disease with polydactyly, renal agenesis, and deafness|Hirschsprung disease, deafness and polydactyly|Santos Mateus Leal syndrome|Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness|Hirschsprung disease-deafness-polydactyly syndrome|Santos-Mateus-Leal syndrome	http://purl.obolibrary.org/obo/MONDO_0009342	Orphanet:2155|http://identifiers.org/mesh/C565518|https://omim.org/entry/235740|http://identifiers.org/snomedct/721221000	ordo_malformation_syndrome
MONDO:0009341	biolink:Disease	Mowat-Wilson syndrome	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.	ICD9:759.89|SCTID:703535000|GARD:0009673|Orphanet:2152|OMIM:235730|NCIT:C74999|DOID:0060485|UMLS:C1856113|MESH:C536990	mondo.json	microcephaly, mental retardation, and distinct Facial features, with or without Hirschsprung disease|Hirschsprung disease-mental retardation syndrome|microcephaly, intellectual disability, and distinct Facial features, with or without Hirschsprung disease|microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease|Hirschsprung disease mental retardation syndrome|mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease|intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease|Hirschsprung disease-intellectual disability syndrome|microcephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease|Mowat-Wilson syndrome|Hirschsprung disease intellectual disability syndrome|MOWS	http://purl.obolibrary.org/obo/MONDO_0009341	Orphanet:2152|UMLS:C1856113|http://identifiers.org/snomedct/703535000|http://identifiers.org/mesh/C536990|DOID:0060485|NCIT:C74999|https://omim.org/entry/235730	ordo_malformation_syndrome|gard_rare
MONDO:0010341	biolink:Disease	autism, susceptibility to, X-linked 2	A class of genetic disorders resulting in intellectual disability that is associated either with mutations of genes located on the X chromosome or aberrations in the structure of the X chromosome (sex chromosome aberrations).	MESH:D038901|OMIM:300495	mondo.json	intellectual developmental disorder, X-linked, Isolated cases, X-linked|mental retardation, X-linked|autism susceptibility, X-linked 2, isolated cases, X-linked|AUTSX2|intellectual disability, X-linked|autism, susceptibility to, X-linked 2|autism, susceptibility to, X-linked type 2|susceptibility to X-linked autism 2	http://purl.obolibrary.org/obo/MONDO_0010341	https://omim.org/entry/300495|http://identifiers.org/mesh/D038901	predisposition
MONDO:0010340	biolink:Disease	Asperger syndrome, X-linked, susceptibility to, 1		OMIM:300494|UMLS:C1845341	mondo.json	ASPGX1|ASPERGER syndrome, X-linked, susceptibility to, 1|Asperger syndrome susceptibility, X-linked 1, Isolated cases, X-linked|Asperger syndrome, X-linked, susceptibility to, 1|Asperger syndrome, X-linked, susceptibility to, type 1|susceptibility to X-linked asperger syndrome 1	http://purl.obolibrary.org/obo/MONDO_0010340	https://omim.org/entry/300494|UMLS:C1845341	predisposition
MONDO:0009340	biolink:Disease	non-spherocytic hemolytic anemia due to hexokinase deficiency	Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia.	MESH:C562995|OMIM:235700|Orphanet:90031|GARD:0003672	mondo.json	hemolytic anemia, nonspherocytic, due to hexokinase deficiency|hemolytic anemia due to hexokinase deficiency|nonspherocytic hemolytic anemia due to hexokinase deficiency|hexokinase deficiency hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0009340	Orphanet:90031|https://omim.org/entry/235700|http://identifiers.org/mesh/C562995	gard_rare|ordo_disease
MONDO:0010343	biolink:Disease	Asperger syndrome, X-linked, susceptibility to, 2		OMIM:300497	mondo.json	susceptibility to X-linked asperger syndrome 2|ASPGX2|Asperger syndrome susceptibility, X-linked 2|ASPERGER syndrome, X-linked, susceptibility to, 2|Asperger syndrome, X-linked, susceptibility to, 2|Asperger syndrome, X-linked, susceptibility to, type 2	http://purl.obolibrary.org/obo/MONDO_0010343	https://omim.org/entry/300497	predisposition
MONDO:0010342	biolink:Disease	autism, susceptibility to, X-linked 3		OMIM:300496	mondo.json	susceptibility to X-linked autism 3|autism susceptibility, X-linked 3|AUTSX3|autism, susceptibility to, X-linked 3|autism, susceptibility to, X-linked type 3	http://purl.obolibrary.org/obo/MONDO_0010342	https://omim.org/entry/300496	predisposition
MONDO:0010345	biolink:Disease	obsolete ocular albinism			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010345		
MONDO:0010344	biolink:Disease	intellectual disability, X-linked 45	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF81 gene.	MESH:C564503|UMLS:C1845333|OMIM:300498	mondo.json	mental retardation, X-linked 45|non-syndromic X-linked intellectual disability caused by mutation in ZNF81|ZNF81 non-syndromic X-linked intellectual disability|mental retardation, X-linked type 45|intellectual disability, X-linked 45|intellectual disability, X-linked type 45|MRX45	http://purl.obolibrary.org/obo/MONDO_0010344	http://identifiers.org/mesh/C564503|https://omim.org/entry/300498|UMLS:C1845333	
HGNC:11547	biolink:NamedThing	TAF15			mondo.json		http://identifiers.org/hgnc/11547		
MONDO:0010347	biolink:Disease	intellectual disability, X-linked 84		OMIM:300505|UMLS:C1845297|MESH:C564501	mondo.json	intellectual disability, X-linked 84|mental retardation, X-linked 84, X-linked recessive|MRX84|mental retardation, X-linked 84	http://purl.obolibrary.org/obo/MONDO_0010347	http://identifiers.org/mesh/C564501|https://omim.org/entry/300505|UMLS:C1845297	
MONDO:0010346	biolink:Disease	obsolete MRX52		OMIM:300504	mondo.json		http://purl.obolibrary.org/obo/MONDO_0010346	https://omim.org/entry/300504	
MONDO:0022316	biolink:Disease	hair defect with photosensitivity and intellectual disability syndrome	Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents.	MESH:C537628|SCTID:721007005|OMIM:234030|GARD:0002582|Orphanet:1408	mondo.json	hair defect with photosensitivity and intellectual disability|kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive intellectual disability|Calderon Gonzalez-Cantu syndrome|Calderón-González-Cantu syndrome|kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation|hair defect-photosensitivity-intellectual disability syndrome|hair defect with photosensitivity and mental retardation|hair defect with photosensitivity and intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0022316	Orphanet:1408|http://identifiers.org/mesh/C537628|https://omim.org/entry/234030|http://identifiers.org/snomedct/721007005	ordo_malformation_syndrome
HGNC:11540	biolink:NamedThing	TAF6			mondo.json		http://identifiers.org/hgnc/11540		
MONDO:0024971	biolink:Disease	parturient paresis	A disease of pregnant and lactating cows and ewes leading to generalized paresis and death. The disease, which is characterized by hypocalcemia, occurs at or shortly after parturition in cows and within weeks before or after parturition in ewes.	MESH:D010319|UMLS:C0030612|SCTID:405256006	mondo.json	animal milk fever|Pareses, parturient|milk fever, animal|parturient Pareses|paresis, parturient|milk fever|fever, animal milk	http://purl.obolibrary.org/obo/MONDO_0024971	http://identifiers.org/mesh/D010319|http://identifiers.org/snomedct/405256006|UMLS:C0030612	
MONDO:0024973	biolink:Disease	pneumonia, atypical interstitial, of cattle	A cattle disease of uncertain cause, probably an allergic reaction.	MESH:D011016	mondo.json	adenomatosis, pulmonary, bovine|Adenomatoses, bovine pulmonary|emphysema, acute bovine pulmonary|adenomatosis, bovine pulmonary|pulmonary Adenomatoses, bovine|fever, Fog|bovine pulmonary Adenomatoses|atypical interstitial pneumonia of cattle|pulmonary adenomatosis, bovine|Fog fever|bovine pulmonary adenomatosis	http://purl.obolibrary.org/obo/MONDO_0024973	http://identifiers.org/mesh/D011016	
MONDO:0022311	biolink:Disease	cote katsantoni syndrome		MESH:C536449|UMLS:C2931195|GARD:0001554	mondo.json	ectodermal dysplasia osteosclerosis	http://purl.obolibrary.org/obo/MONDO_0022311	http://identifiers.org/mesh/C536449|UMLS:C2931195	gard_rare
HGNC:23537	biolink:NamedThing	DHTKD1			mondo.json		http://identifiers.org/hgnc/23537		
CHR:9606-chr20p1	biolink:NamedThing	20p1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr20p1		
MONDO:0022314	biolink:Disease	obsolete Hernandez Aguirre-Negrete syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022314		
MONDO:0010327	biolink:Disease	HSD10 mitochondrial disease	A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.	OMIM:300438|DOID:0060810|MESH:C536080|UMLS:CN204973|Orphanet:391417|Orphanet:85295|MESH:C564560|SCTID:791000124107|OMIM:300220|GARD:0010716|UMLS:C1846168	mondo.json	HSD10 mitochondrial disease, X-linked dominant|3H2MBD deficiency|3-hydroxyacyl-CoA dehydrogenase 2 deficiency|2M3HBA|MHBD deficiency|HSD10 mitochondrial disease|17-beta-hydroxysteroid dehydrogenase X deficiency|mental retardation, X-linked, syndromic 10|17 beta-hydroxysteroid dehydrogenase type 10 deficiency|HSD10 deficiency, atypical type|2-methyl-3-hydroxybutyric aciduria|17-beta-hydroxysteroid dehydrogenase 10 deficiency|mental retardation with chorioathetosis and abnormal behavior|3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency|chorioathetosis with mental retardation and abnormal behavior|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency|MRXS10|X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome|HSD17B10 deficiency|mental retardation, X-linked syndromic 10|syndromic X-linked intellectual disability type 10|HSD10 deficiency|hydroxyacyl-CoA dehydrogenase II deficiency|HSD10MD|mental retardation, X-linked, syndromic type 10	http://purl.obolibrary.org/obo/MONDO_0010327	http://identifiers.org/mesh/C536080|Orphanet:391417|http://identifiers.org/mesh/C564560|https://omim.org/entry/300220|https://omim.org/entry/300438|DOID:0060810|UMLS:CN204973|http://identifiers.org/snomedct/791000124107	ordo_clinical_subtype|ordo_disease
MONDO:0010326	biolink:Disease	intellectual disability, X-linked 46	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ARHGEF6 gene.	MESH:C564513|UMLS:C1845526|OMIM:300436	mondo.json	intellectual disability, X-linked 46|ARHGEF6 non-syndromic X-linked intellectual disability|mental retardation, X-linked type 46|intellectual disability, X-linked type 46|mental retardation, X-linked 46, X-linked recessive|non-syndromic X-linked intellectual disability caused by mutation in ARHGEF6|MRX46|mental retardation, X-linked 46	http://purl.obolibrary.org/obo/MONDO_0010326	UMLS:C1845526|http://identifiers.org/mesh/C564513|https://omim.org/entry/300436	
MONDO:0009359	biolink:Disease	multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome		DOID:0080327|UMLS:C1856053|Orphanet:500135|OMIM:236500|MESH:C565507	mondo.json	hydranencephaly with renal aplasia-dysplasia|MARCH|MARCH syndrome|multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly|multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly	http://purl.obolibrary.org/obo/MONDO_0009359	DOID:0080327|UMLS:C1856053|Orphanet:500135|http://identifiers.org/mesh/C565507|https://omim.org/entry/236500	ordo_malformation_syndrome
MONDO:0012988	biolink:Disease	hypogonadotropic hypogonadism 6 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene.	ICD10CM:E23.0|GARD:0010774|OMIM:612702|DOID:0090086|MESH:C567199|UMLS:C3552574	mondo.json	Kallmann syndrome 6|HH6|hypogonadotropic hypogonadism caused by mutation in FGF8|hypogonadotropic hypogonadism 6 with or without anosmia|FGF8 hypogonadotropic hypogonadism|KAL6	http://purl.obolibrary.org/obo/MONDO_0012988	DOID:0090086|UMLS:C3552574|https://omim.org/entry/612702|http://identifiers.org/mesh/C567199	gard_rare
MONDO:0010329	biolink:Disease	intellectual disability, X-linked 77		UMLS:C1845499|OMIM:300454|MESH:C564511	mondo.json	intellectual disability, X-linked 77|MRX77|mental retardation, X-linked 77|mental retardation, X-linked 77, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0010329	UMLS:C1845499|http://identifiers.org/mesh/C564511|https://omim.org/entry/300454	
MONDO:0009358	biolink:Disease	Hutterite cerebroosteonephrodysplasia syndrome		MESH:C536074|UMLS:C1856054|GARD:0009956|OMIM:236450	mondo.json	cerebroosteonephosis syndrome|cond|Hutterite cerebroosteonephrodysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0009358	UMLS:C1856054|http://identifiers.org/mesh/C536074|https://omim.org/entry/236450	gard_rare
MONDO:0010328	biolink:Disease	alpha-thalassemia-myelodysplastic syndrome	Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).	Orphanet:231401|ICD10CM:D56.0|MESH:C563023|SCTID:307343001|UMLS:C0585216|OMIM:300448|ICD9:282.49	mondo.json	alpha-thalassemia myelodysplasia syndrome, somatic|Hemoglobin H disease, acquired|ATMDS|acquired HbH disease|acquired hemoglobin H disease|ALPHA-thalassemia myelodysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0010328	UMLS:C0585216|Orphanet:231401|http://identifiers.org/snomedct/307343001|http://identifiers.org/mesh/C563023|https://omim.org/entry/300448	ordo_disease
MONDO:0012989	biolink:Disease	microcephaly 7, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the STIL gene.	UMLS:C2675187|DOID:0070278|MESH:C567198|OMIM:612703	mondo.json	autosomal recessive primary microcephaly caused by mutation in STIL|MCPH7|STIL autosomal recessive primary microcephaly|microcephaly 7, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0012989	http://identifiers.org/mesh/C567198|UMLS:C2675187|DOID:0070278|https://omim.org/entry/612703	
MONDO:0009357	biolink:Disease	humeroradial synostosis with craniofacial anomalies		MESH:C566888|OMIM:236410|UMLS:C1968717	mondo.json	humeroradial synostosis with craniofacial anomalies	http://purl.obolibrary.org/obo/MONDO_0009357	http://identifiers.org/mesh/C566888|https://omim.org/entry/236410|UMLS:C1968717	
MONDO:0009356	biolink:Disease	autosomal recessive humeroradial synostosis	Autosomal recessive form of humeroradial synostosis (disease).	OMIM:236400	mondo.json	humeroradial/multiple synostosis syndrome|humeroradial synostosis (disease), autosomal recessive|humeroradial synostosis|autosomal recessive humeroradial synostosis (disease)	http://purl.obolibrary.org/obo/MONDO_0009356	https://omim.org/entry/236400	
MONDO:0009355	biolink:Disease	Hooft disease		MESH:C535329|OMIM:236300|GARD:0009702|UMLS:C0268479	mondo.json	delayed physical development, erythematosquamous eruption, opaque leukonychia, intellectual disability, and low serum lipids|Hooft disease	http://purl.obolibrary.org/obo/MONDO_0009355	https://omim.org/entry/236300|http://identifiers.org/mesh/C535329|UMLS:C0268479	gard_rare
MONDO:0009354	biolink:Disease	methylcobalamin deficiency type cblE	An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia.	UMLS:C1856057|Orphanet:2169|NCIT:C142173|MESH:C565510|EFO:0005568|GARD:0002732|OMIM:236270|DOID:0050732	mondo.json	methylcobalamin deficiency type cblE|homocystinuria due to defect in methylation Cbl e|vitamin B12-responsive homocystinuria, cblE type|homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblE complementation type|functional methionine synthase deficiency type cblE|HMAE|methylcobalamin deficiency, cblE type|methylmalonic aciduria and homocystinuria type cblE|homocystinuria-megaloblastic anemia, cbl e type|homocystinuria-megaloblastic anemia, cblE complementation type	http://purl.obolibrary.org/obo/MONDO_0009354	Orphanet:2169|UMLS:C1856057|https://omim.org/entry/236270|DOID:0050732|http://identifiers.org/mesh/C565510|NCIT:C142173	gard_rare|ordo_clinical_subtype
MONDO:0009353	biolink:Disease	homocystinuria due to methylene tetrahydrofolate reductase deficiency	Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.	SCTID:41797007|GARD:0002734|MESH:C537357|OMIM:236250|Orphanet:395	mondo.json	homocystinuria due to MTHFR deficiency|5,10 alpha methylenetetrahydro-folate reductase deficiency|methylene tetrahydrofolate reductase deficiency|MTHFR deficiency, thermolabile type|Methylenetetrahydro-folate reductase deficiency|methylenetetrahydrofolate reductase deficiency|homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity|Homocysteinemia due to methylenetetrahydro-folate reductase deficiency|MTHFR deficiency|5,10-alpha-methylenetetrahydro-folate reductase deficiency|homocystinuria due to methylene tetrahydrofolate reductase deficiency|Homocysteinuria due to methylenetetrahydro-folate reductase deficiency	http://purl.obolibrary.org/obo/MONDO_0009353	http://identifiers.org/snomedct/41797007|http://identifiers.org/mesh/C537357|Orphanet:395|https://omim.org/entry/236250	ordo_disease
MONDO:0009352	biolink:Disease	classic homocystinuria	Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.	Orphanet:394|UMLS:C0751202|OMIM:236200|SCTID:24308003|MedDRA:10071093|GARD:0006667	mondo.json	homocystinuria with or without response to pyridoxine|homocystinuria due to CBS deficiency|homocystinuria due to cystathionine beta-synthase deficiency|cystathionine beta-synthase deficiency|hyperhomocysteinemia, thrombotic, CBS-related|homocystinuria, B6-responsive and nonresponsive types|CBS deficiency|classic homocystinuria|thrombosis, hyperhomocysteinemic	http://purl.obolibrary.org/obo/MONDO_0009352	Orphanet:394|UMLS:C0751202|http://identifiers.org/snomedct/24308003|https://omim.org/entry/236200	ordo_disease|gard_rare
MONDO:0012993	biolink:Disease	dyschromatosis universalis hereditaria 2		UMLS:C2675183|MESH:C567194|OMIM:612715	mondo.json	dyschromatosis universalis hereditaria 2|DUH2	http://purl.obolibrary.org/obo/MONDO_0012993	https://omim.org/entry/612715|http://identifiers.org/mesh/C567194|UMLS:C2675183	
MONDO:0010330	biolink:Disease	obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome	OBSOLETE. Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss.	MESH:C567595|OMIM:300455|Orphanet:247522|UMLS:C2749137	mondo.json	retinitis pigmentosa, X-linked, and SINORESPIRATORY infections, with or without deafness	http://purl.obolibrary.org/obo/MONDO_0010330	https://omim.org/entry/300455|Orphanet:247522|http://identifiers.org/mesh/C567595|UMLS:C2749137	ordo_disease
MONDO:0012994	biolink:Disease	dopa-responsive dystonia due to sepiapterin reductase deficiency	Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.	SCTID:45116002|GARD:0010365|ICD9:277.89|Orphanet:70594|DOID:0111168|MESH:C562657|OMIM:612716|UMLS:C0268468	mondo.json	dystonia, DOPA-responsive, due to sepiapterin reductase deficiency|SRD|sepiapterin reductase deficiency|DRD due to SRD|DYT-SPR|SPR deficiency|dopa-responsive dystonia due to sepiapterin reductase deficiency|autosomal recessive sepiapterin reductase-deficient DRD	http://purl.obolibrary.org/obo/MONDO_0012994	Orphanet:70594|http://identifiers.org/snomedct/45116002|http://identifiers.org/mesh/C562657|https://omim.org/entry/612716|UMLS:C0268468|DOID:0111168	ordo_disease
MONDO:0009351	biolink:Disease	homocarnosinosis	Homocarnosinosis is a metabolic defect characterised by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant.	MESH:C535328|GARD:0002730|DOID:0060177|ICD9:277.89|Orphanet:2168|OMIM:236130|SCTID:61764000|UMLS:C0268632|UMLS:C3495554	mondo.json	homocarnosinosis|Homocarnosinase deficiency	http://purl.obolibrary.org/obo/MONDO_0009351	http://identifiers.org/snomedct/61764000|UMLS:C3495554|https://omim.org/entry/236130|http://identifiers.org/mesh/C535328|DOID:0060177|UMLS:C0268632|Orphanet:2168	ordo_disease
MONDO:0012991	biolink:Disease	Kahrizi syndrome	An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene.	DOID:0050807|MESH:C567196|UMLS:CN200191|OMIM:612713|Orphanet:168972|UMLS:C2675185	mondo.json	mental retardation, cataract, coloboma, and kyphosis, autosomal recessive|Kahrizi syndrome|KHRZ|intellectual disability, cataract, coloboma, and kyphosis, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0012991	DOID:0050807|https://omim.org/entry/612713|http://identifiers.org/mesh/C567196|UMLS:CN200191|UMLS:C2675185	
MONDO:0010332	biolink:Disease	X-linked intellectual disability-cubitus valgus-dysmorphism syndrome	An X-linked syndromic intellectual disability characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.	MESH:C564510|Orphanet:85280|UMLS:C1845450|OMIM:300471	mondo.json	Cubitus valgus with mental retardation and unusual facies, X-linked recessive|cubitus valgus with mental retardation and unusual facies|cubitus valgus with intellectual disability and unusual facies	http://purl.obolibrary.org/obo/MONDO_0010332	Orphanet:85280|http://identifiers.org/mesh/C564510|https://omim.org/entry/300471|UMLS:C1845450	ordo_malformation_syndrome
MONDO:0009350	biolink:Disease	Holzgreve-Wagner-Rehder syndrome	A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects.	OMIM:236110|DOID:0060566|Orphanet:2167|UMLS:C1856095|GARD:0002728|MESH:C535327	mondo.json	Complex congenital heart defect, renal agenesis and cleft lip and palate|Holzgreve syndrome|Holzgreve Wagner Rehder syndrome|cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome	http://purl.obolibrary.org/obo/MONDO_0009350	UMLS:C1856095|https://omim.org/entry/236110|http://identifiers.org/mesh/C535327|DOID:0060566|Orphanet:2167	ordo_malformation_syndrome
MONDO:0012992	biolink:Disease	pancreatic insufficiency-anemia-hyperostosis syndrome	This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.	SCTID:722207000|UMLS:C2675184|UMLS:C4302747|Orphanet:199337|MESH:C567195|OMIM:612714	mondo.json	pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome|exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis	http://purl.obolibrary.org/obo/MONDO_0012992	Orphanet:199337|UMLS:C4302747|http://identifiers.org/snomedct/722207000|https://omim.org/entry/612714|http://identifiers.org/mesh/C567195|UMLS:C2675184	ordo_disease
MONDO:0010331	biolink:Disease	coronary heart disease, susceptibility to, 3		OMIM:300464	mondo.json	coronary heart disease, susceptibility to, type 3|Chds3|coronary heart disease, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0010331	https://omim.org/entry/300464	predisposition
MONDO:0010334	biolink:Disease	severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).	OMIM:300475|Orphanet:369939|MESH:C564508|UMLS:CN204816	mondo.json	DDCH|deafness, dystonia, and cerebral hypomyelination, X-linked recessive|deafness, dystonia, and cerebral hypomyelination|contiguous ABCD1/Dxs1375E deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0010334	http://identifiers.org/mesh/C564508|Orphanet:369939|https://omim.org/entry/300475|UMLS:CN204816	ordo_malformation_syndrome
MONDO:0012997	biolink:Disease	cholestasis-pigmentary retinopathy-cleft palate syndrome	Cholestasis- pigmentary retinopathy- cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis etc) have also been reported. An overlap with Kabuki syndrome is debated.	MESH:C535632|GARD:0009280|SCTID:720636001|UMLS:C0795969|Orphanet:1415|OMIM:612726	mondo.json	Hardikar syndrome|HARDIKAR syndrome	http://purl.obolibrary.org/obo/MONDO_0012997	Orphanet:1415|UMLS:C0795969|http://identifiers.org/mesh/C535632|https://omim.org/entry/612726|http://identifiers.org/snomedct/720636001	ordo_malformation_syndrome
HGNC:11559	biolink:NamedThing	TALDO1			mondo.json		http://identifiers.org/hgnc/11559		
MONDO:0010333	biolink:Disease	corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	A developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.	Orphanet:52055|GARD:0012486|MESH:C564509|OMIM:300472|DOID:0060816|SCTID:722282008	mondo.json	intellectual disability, X-linked, syndromic 28|corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia|MRXS28|Graham-Cox syndrome|corpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathia|corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, X-linked recessive|mental retardation, X-linked, syndromic 28|corpus callosum, agenesis of, with intellectual disability, ocular coloboma, and micrognathia|agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome|corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia	http://purl.obolibrary.org/obo/MONDO_0010333	http://identifiers.org/mesh/C564509|http://identifiers.org/snomedct/722282008|Orphanet:52055|https://omim.org/entry/300472|DOID:0060816	ordo_malformation_syndrome
MONDO:0012998	biolink:Disease	faciocardiomelic syndrome		OMIM:612731|UMLS:C2674798|MESH:C567176	mondo.json	faciocardiomelic syndrome	http://purl.obolibrary.org/obo/MONDO_0012998	UMLS:C2674798|https://omim.org/entry/612731|http://identifiers.org/mesh/C567176	
MONDO:0010336	biolink:Disease	orofaciodigital syndrome VIII	Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.	GARD:0004060|OMIM:300484|DOID:0060378|SCTID:722106001|Orphanet:2755|UMLS:C0152096|MESH:C557820	mondo.json	OFD syndrome 8|oral-facial-digital syndrome type 8|orofaciodigital syndrome VIII|oral facial digital syndrome type 8|orofaciodigital syndrome type 8|orofaciodigital syndrome, Edwards type|oral-facial-digital syndrome, Edwards type|orofaciodigital syndrome VIII, X-linked recessive|oral-Facial-digital syndrome, type 8|orofaciodigital syndrome type VIII|orofaciodigital syndrome 8|oral facial digital syndrome 8|Ofds 8|OFD8|oral-Facial-digital syndrome with hypoplastic Epiglottis	http://purl.obolibrary.org/obo/MONDO_0010336	Orphanet:2755|http://identifiers.org/snomedct/722106001|DOID:0060378|https://omim.org/entry/300484|http://identifiers.org/mesh/C557820	ordo_malformation_syndrome
MONDO:0012995	biolink:Disease	myopia 15, autosomal dominant		OMIM:612717|UMLS:C2675180|MESH:C567193	mondo.json	MYP15|myopia 15, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012995	https://omim.org/entry/612717|http://identifiers.org/mesh/C567193|UMLS:C2675180	
HGNC:11557	biolink:NamedThing	TAL2			mondo.json		http://identifiers.org/hgnc/11557		
MONDO:0010335	biolink:Disease	X-linked cone-rod dystrophy 3		GARD:0010654|DOID:0111007|MESH:C564507|OMIM:300476	mondo.json	cone-rod dystrophy, X-linked, 3|CORDX3|cone-rod dystrophy X-linked 3|cone-rod dystrophy, X-linked, type 3|cone-rod dystrophy, X-linked, 3, X-linked recessive|X-linked cone-rod dystrophy type 3	http://purl.obolibrary.org/obo/MONDO_0010335	DOID:0111007|http://identifiers.org/mesh/C564507|https://omim.org/entry/300476	gard_rare
MONDO:0012996	biolink:Disease	AGAT deficiency	L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.	Orphanet:35704|ICD9:270.8|OMIM:612718|UMLS:C2675179|SCTID:702440000|MESH:C567192|DOID:0050712|GARD:0010323	mondo.json	CCDS3|disorder of glycine amidinotransferase activity|L-arginine:glycine amidinotransferase deficiency|creatine deficiency syndrome due to AGAT deficiency|GATM deficiency|glycine amidinotransferase activity disease|arginine:glycine amidinotransferase deficiency|AGAT deficiency|cerebral creatine deficiency syndrome type 3|cerebral creatine deficiency syndrome 3	http://purl.obolibrary.org/obo/MONDO_0012996	DOID:0050712|http://identifiers.org/snomedct/702440000|Orphanet:35704|https://omim.org/entry/612718|http://identifiers.org/mesh/C567192|UMLS:C2675179	ordo_disease
HGNC:11556	biolink:NamedThing	TAL1			mondo.json		http://identifiers.org/hgnc/11556		
MONDO:0022308	biolink:Disease	corticobasal degeneration disorder	A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment.	GARD:0000046|NCIT:C129069|SCTID:18842008|Orphanet:454887	mondo.json	cortico-basal ganglionic Degeneration (CBGD)|CBGD|corticobasal syndrome|cortical basal ganglionic degeneration|corticobasal degeneration|corticodentatonigral degeneration with neuronal achromasia|cortical-basal ganglionic degeneration	http://purl.obolibrary.org/obo/MONDO_0022308	NCIT:C129069|http://identifiers.org/snomedct/18842008	gard_rare
MONDO:0024969	biolink:Disease	parasitic disease, non-human animal	Infections or infestations with parasitic organisms. The infestation may be experimental or veterinary.	MESH:D010273|UMLS:C0030500	mondo.json	disease, animal parasitic|parasitic disease, animal|animal parasitic diseases|animal parasitic disease|diseases, animal parasitic	http://purl.obolibrary.org/obo/MONDO_0024969	UMLS:C0030500|http://identifiers.org/mesh/D010273	
HGNC:11551	biolink:NamedThing	BRF1			mondo.json		http://identifiers.org/hgnc/11551		
MONDO:0012990	biolink:Disease	Leber congenital amaurosis 13	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene.	MESH:C567197|DOID:0110330|ICD10CM:H35.5|UMLS:C2675186|OMIM:612712|GARD:0010882	mondo.json	LCA13|Leber congenital amaurosis caused by mutation in RDH12|retinitis pigmentosa 53|Leber congenital amaurosis 13|Leber congenital amaurosis type 13|RDH12 Leber congenital amaurosis	http://purl.obolibrary.org/obo/MONDO_0012990	DOID:0110330|https://omim.org/entry/612712|http://identifiers.org/mesh/C567197|UMLS:C2675186	gard_rare
MONDO:8000008	biolink:Disease	Martsolf syndrome 1	This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.	UMLS:C0796037|Orphanet:1387|OMIM:212720|GARD:0003406|SCTID:722380003|MESH:C536028|DOID:0111586	mondo.json	cataract-intellectual disability-hypogonadism syndrome|MARTSOLF syndrome|cataract-mental retardation-hypogonadism|cataract-intellectual disability-hypogonadism|Martsolf syndrome	http://purl.obolibrary.org/obo/MONDO_8000008	Orphanet:1387|http://identifiers.org/mesh/C536028|http://identifiers.org/snomedct/722380003|https://omim.org/entry/212720|DOID:0111586|UMLS:C0796037	
HGNC:23505	biolink:NamedThing	BMS1			mondo.json		http://identifiers.org/hgnc/23505		
HGNC:23503	biolink:NamedThing	SLITRK6			mondo.json		http://identifiers.org/hgnc/23503		
MONDO:8000005	biolink:Disease	fungal discitis	Discitis caused by infection with fungi.		mondo.json		http://purl.obolibrary.org/obo/MONDO_8000005		
MONDO:8000004	biolink:Disease	salmonella discitis	Discitis caused by infection with Salmonella.		mondo.json		http://purl.obolibrary.org/obo/MONDO_8000004		
MONDO:8000006	biolink:Disease	WHIM syndrome 1	A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).	GARD:0009297|OMIM:193670|UMLS:C0472817|DOID:0060591|Orphanet:51636|MESH:C536697|SCTID:234571003	mondo.json	myelokathexis, isolated|Warts-hypogammaglobulinemia-infections-myelokathexis syndrome|WHIM syndrome|WILM|WHIMS|Warts-infections-leukopenia-myelokatexis syndrome|Warts, hypogammaglobulinemia, infections, and myelokathexis syndrome|Warts, hypogammaglobulinemia, infections, and myelokathexis	http://purl.obolibrary.org/obo/MONDO_8000006	http://identifiers.org/snomedct/234571003|https://omim.org/entry/193670|http://identifiers.org/mesh/C536697|DOID:0060591|UMLS:C0472817|Orphanet:51636	
MONDO:0022380	biolink:Disease	acute lymphoblastic leukemia congenital sporadic aniridia	A disease characterized by acute lymphoblastic leukemia with the presence of congenital sporadic aniridia, the absence of an iris, where neither parent has aniridia.	GARD:0000523	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022380		gard_rare
MONDO:8000001	biolink:Disease	staphylococcus discitis	Discitis caused by infection with Staphylococcus.		mondo.json		http://purl.obolibrary.org/obo/MONDO_8000001		
MONDO:8000000	biolink:Disease	infectious discitis	An infection of the intervertebral disc space.		mondo.json		http://purl.obolibrary.org/obo/MONDO_8000000		
MONDO:8000003	biolink:Disease	streptococcus pneumoniae discitis	Discitis caused by infection with Streptococcus pneumoniae.		mondo.json		http://purl.obolibrary.org/obo/MONDO_8000003		
MONDO:8000002	biolink:Disease	escherichia coli discitis	Discitis caused by infection with Escherichia coli.		mondo.json		http://purl.obolibrary.org/obo/MONDO_8000002		
HGNC:11521	biolink:NamedThing	TAC3			mondo.json		http://identifiers.org/hgnc/11521		
MONDO:8000010	biolink:Disease	antiphospholipid syndrome	A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease.	ICD9:279.49|ICD10CM:D68.61|NCIT:C61283|GARD:0005824|DOID:2988|UMLS:C0085278|SCTID:26843008|Orphanet:80|MESH:D016736	mondo.json	antiphospholipid antibody syndrome|Hughes syndrome|familial lupus anticoagulant|antiphospholipid syndrome|lupus anticoagulant, familial	http://purl.obolibrary.org/obo/MONDO_8000010	NCIT:C61283|DOID:2988|Orphanet:80|http://purl.bioontology.org/ontology/ICD10CM/D68.61|http://identifiers.org/mesh/D016736|UMLS:C0085278|http://identifiers.org/snomedct/26843008	
MONDO:8000019	biolink:Disease	vertigo, benign recurrent, 1		OMIM:193007|MESH:C567620	mondo.json	vertigo, benign recurrent, 1	http://purl.obolibrary.org/obo/MONDO_8000019	http://identifiers.org/mesh/C567620	
MONDO:8000015	biolink:Disease	46,XY sex reversal 11	Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene.	OMIM:273250|MESH:C537770	mondo.json	TRS|SRXY11|testicular regression, embryonic|46, XY sex reversal 11|anorchia, familial|testicular regression syndrome|XY gonadal agenesis syndrome	http://purl.obolibrary.org/obo/MONDO_8000015	http://identifiers.org/mesh/C537770|https://omim.org/entry/273250	
HGNC:11529	biolink:NamedThing	EPCAM			mondo.json		http://identifiers.org/hgnc/11529		
HGNC:11528	biolink:NamedThing	TACR3			mondo.json		http://identifiers.org/hgnc/11528		
MONDO:8000018	biolink:Disease	benign paroxysmal positional vertigo	Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed.	ICD9:386.11|SCTID:111541001|MESH:D065635|UMLS:C0155502|OMIM:193007|DOID:13941|GARD:0005915	mondo.json	benign paroxysmal positional vertigo|benign paroxysmal positional nystagmus|BRV|familial vestibulopathy|vertigo, benign paroxysmal positional|vertigo, benign recurrent|vestibulopathy, familial|BPPV|familial benign recurrent vertigo	http://purl.obolibrary.org/obo/MONDO_8000018	https://omim.org/entry/193007|http://identifiers.org/mesh/D065635|UMLS:C0155502|DOID:13941|http://identifiers.org/snomedct/111541001	
MONDO:8000017	biolink:Disease	testicular regression syndrome	A developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development.	MedDRA:10002641|UMLS:C0266427|ICD9:752.89|SCTID:53599007|Orphanet:983	mondo.json	vanishing testis syndrome|TRS|ETRS|embryonic testicular regression syndrome|vanishing testes syndrome	http://purl.obolibrary.org/obo/MONDO_8000017	UMLS:C0266427|http://identifiers.org/snomedct/53599007|Orphanet:983	ordo_morphological_anomaly
MONDO:8000012	biolink:Disease	neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1		Orphanet:456312|UMLS:C4015728|OMIM:616263	mondo.json	neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset|infantile-onset multisystem neurologic, endocrine, and pancreatic disease|IMNEPD	http://purl.obolibrary.org/obo/MONDO_8000012	https://omim.org/entry/616263|UMLS:C4015728|Orphanet:456312	
MONDO:8000011	biolink:Disease	visceral neuropathy, familial, 1, autosomal recessive	A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.	Orphanet:99811|UMLS:C1855733|OMIM:243180|MESH:C537394|GARD:0003969	mondo.json	pseudoobstruction, chronic idiopathic intestinal, neuronal type|pseudoobstruction chronic idiopathic intestinal neuronal type|Argyrophil myenteric plexus deficiency of|Argyrophil myenteric plexus, deficiency of|neuronal intestinal dysplasia, type a|intestinal pseudoobstruction due to neuronal disease|visceral neuropathy, familial, autosomal recessive|NID A|visceral neuropathy familial	http://purl.obolibrary.org/obo/MONDO_8000011	UMLS:C1855733|https://omim.org/entry/243180|http://identifiers.org/mesh/C537394|Orphanet:99811	
MONDO:8000014	biolink:Disease	familial antiphospholipid syndrome	Autosomal dominant form of antiphospholipid syndrome.	GARD:0005824|OMIM:107320|UMLS:C2930802|MESH:C531622	mondo.json	antiphospholipid syndrome, familial|Hughes syndrome	http://purl.obolibrary.org/obo/MONDO_8000014	https://omim.org/entry/107320|http://identifiers.org/mesh/C531622|UMLS:C2930802	
MONDO:8000013	biolink:Disease	portal hypertension, noncirrhotic, 1		OMIM:617068|UMLS:C4310735	mondo.json	portal hypertension, noncirrhotic|NCPH|portal hypertension, noncirrhotic; NCPH	http://purl.obolibrary.org/obo/MONDO_8000013	UMLS:C4310735|https://omim.org/entry/617068	
MONDO:0010396	biolink:Disease	developmental and epileptic encephalopathy, 2	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene.	Orphanet:505652|OMIM:300672|DOID:0080467|UMLS:C1839333|MESH:C564064	mondo.json	epileptic encephalopathy, early infantile, 2|infantile spasm syndrome, X-linked 2|DEE2|developmental and epileptic encephalopathy, 2|epileptic encephalopathy, early infantile, type 2|EIEE2|early infantile epileptic encephalopathy caused by mutation in CDKL5|developmental and epileptic encephalopathy 2, X-linked dominant|CDKL5 early infantile epileptic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0010396	Orphanet:505652|DOID:0080467|http://identifiers.org/mesh/C564064|https://omim.org/entry/300672	ordo_disease
MONDO:0010395	biolink:Disease	phosphoribosylpyrophosphate synthetase superactivity	Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity).	Orphanet:3222|DOID:0111260|OMIM:300661|UMLS:C1970827|SCTID:723454008|MESH:C567064	mondo.json	PRPS1 superactivity|gout, PRPS-related|phosphoribosylpyrophosphate synthetase superactivity, X-linked recessive|gout, PRPS-related, X-linked recessive|PRPP synthetase superactivity|phosphoribosylpyrophosphate synthetase superactivity	http://purl.obolibrary.org/obo/MONDO_0010395	Orphanet:3222|http://identifiers.org/mesh/C567064|UMLS:C1970827|DOID:0111260|http://identifiers.org/snomedct/723454008|https://omim.org/entry/300661	ordo_disease
MONDO:0010398	biolink:Disease	syndromic X-linked intellectual disability 14	Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene.	MESH:C567063|DOID:0060821|OMIM:300676|UMLS:C1970822|Orphanet:323	mondo.json	syndromic X-linked intellectual disability 14|MRXS14|intellectual disability, X-linked, syndromic type 14|intellectual developmental disorder, X-linked syndromic 14, X-linked recessive|mental retardation, X-linked, syndromic type 14|intellectual disability, X-linked, syndromic 14|syndromic X-linked intellectual disability type 14|UPF3B X-linked syndromic intellectual disability|mental retardation, X-linked, syndromic 14|X-linked syndromic intellectual disability caused by mutation in UPF3B	http://purl.obolibrary.org/obo/MONDO_0010398	http://identifiers.org/mesh/C567063|UMLS:C1970822|https://omim.org/entry/300676|DOID:0060821	
MONDO:0010397	biolink:Disease	severe neonatal-onset encephalopathy with microcephaly	An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy.	Orphanet:209370|UMLS:C1968556|MESH:C566878|OMIM:300673|NCIT:C132293	mondo.json	severe congenital encephalopathy due to MECP2 mutation|encephalopathy, neonatal severe, due to MECP2 mutations|encephalopathy, neonatal severe, X-linked recessive|severe neonatal encephalopathy due to MECP2 mutations	http://purl.obolibrary.org/obo/MONDO_0010397	Orphanet:209370|NCIT:C132293|http://identifiers.org/mesh/C566878|https://omim.org/entry/300673|UMLS:C1968556	ordo_disease
HGNC:11530	biolink:NamedThing	TACSTD2			mondo.json		http://identifiers.org/hgnc/11530		
MONDO:0010399	biolink:Disease	chromosome Xp21 deletion syndrome		UMLS:C0795887|DOID:0060427|ICD9:277.6|Orphanet:261476|OMIM:300679|SCTID:297257004	mondo.json	chromosome Xp21 deletion syndrome|complex glycerol kinase deficiency|Xp21 microdeletion syndrome|monosomy Xp21|Xp21 contiguous gene deletion syndrome|Complex Glycerol kinase deficiency|Del(X)(p21)|Glycerol kinase deficiency-contiguous gene syndrome	http://purl.obolibrary.org/obo/MONDO_0010399	Orphanet:261476|UMLS:C0795887|http://identifiers.org/snomedct/297257004|DOID:0060427|https://omim.org/entry/300679	ordo_disease
HGNC:11536	biolink:NamedThing	TAF2			mondo.json		http://identifiers.org/hgnc/11536		
HGNC:11535	biolink:NamedThing	TAF1			mondo.json		http://identifiers.org/hgnc/11535		
HGNC:23508	biolink:NamedThing	STOX1			mondo.json		http://identifiers.org/hgnc/23508		
MONDO:0010390	biolink:Disease	ocular albinism with late-onset sensorineural deafness	Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome.	OMIM:300650|UMLS:C1845069|SCTID:722054007|GARD:0000592|Orphanet:1000	mondo.json	ocular albinism with sensorineural deafness|OASD|albinism ocular late onset sensorineural deafness|deafness and ocular albinism|albinism, ocular, with late-onset sensorineural deafness	http://purl.obolibrary.org/obo/MONDO_0010390	Orphanet:1000|http://identifiers.org/snomedct/722054007|https://omim.org/entry/300650|UMLS:C1845069	ordo_disease
MONDO:0010392	biolink:Disease	glycogen storage disease due to phosphoglycerate kinase 1 deficiency	Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.	GARD:0007389|OMIM:300653|UMLS:C1970848|MESH:C567067|NCIT:C126738|Orphanet:713	mondo.json	PHOSPHOGLYCERATE KINASE 1 deficiency|glycogenosis due to phosphoglycerate kinase 1 deficiency|PGK deficiency|Pgk1 deficiency|glycogen storage disease due to phosphoglycerate kinase 1 deficiency|Phosphoglycerate kinase deficiency|glycogen storage disease caused by mutation in PGK1|GSD due to phosphoglycerate kinase 1 deficiency|phosphoglycerate kinase 1 deficiency, X-linked recessive|PGK1 glycogen storage disease	http://purl.obolibrary.org/obo/MONDO_0010392	http://identifiers.org/mesh/C567067|UMLS:C1970848|Orphanet:713|NCIT:C126738|https://omim.org/entry/300653	ordo_disease
MONDO:0010391	biolink:Disease	angioma serpiginosum, X-linked		OMIM:300652|GARD:0010188|MESH:C536366	mondo.json	angio serpiginosum, X-linked dominant|angioma serpiginosum, X-linked	http://purl.obolibrary.org/obo/MONDO_0010391	http://identifiers.org/mesh/C536366|https://omim.org/entry/300652	
MONDO:0010394	biolink:Disease	obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome		OMIM:300660	mondo.json		http://purl.obolibrary.org/obo/MONDO_0010394	https://omim.org/entry/300660	
MONDO:0010393	biolink:Disease	intellectual disability, X-linked 93	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene.	UMLS:C1970841|MESH:C567066|OMIM:300659	mondo.json	intellectual disability, X-linked type 93|BRWD3 non-syndromic X-linked intellectual disability|MRX93|mental retardation, X-linked 93|intellectual disability, X-linked, with macrocephaly|mental retardation, X-linked type 93|intellectual developmental disorder, X-linked 93, X-linked recessive|intellectual disability, X-linked 93|non-syndromic X-linked intellectual disability caused by mutation in BRWD3|mental retardation, X-linked, with macrocephaly	http://purl.obolibrary.org/obo/MONDO_0010393	http://identifiers.org/mesh/C567066|UMLS:C1970841|https://omim.org/entry/300659	
MONDO:0009389	biolink:Disease	hyperlysinemia due to defect in lysine transport into mitochondria		OMIM:238710|MESH:C565499|UMLS:C1855927	mondo.json	hyperlysinemia due to defect in lysine TRANSPORT into mitochondria	http://purl.obolibrary.org/obo/MONDO_0009389	https://omim.org/entry/238710|http://identifiers.org/mesh/C565499|UMLS:C1855927	
MONDO:8000023	biolink:Disease	type 3 autoimmune lymphoproliferative syndrome	A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.	UMLS:C1519711|NCIT:C39577	mondo.json		http://purl.obolibrary.org/obo/MONDO_8000023	UMLS:C1519711|NCIT:C39577	
MONDO:0009388	biolink:Disease	hyperlysinemia	Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.	ICD9:270.7|NCIT:C123433|UMLS:C0268553|SCTID:58558003|OMIM:238700|GARD:0002828|Orphanet:2203|DOID:9274|HP:0002161	mondo.json	hyperlysinemia type I|Alpha-aminoadipic semialdehyde synthase deficiency|L-lysine:NAD-oxido-reductase deficiency|L-lysine NAD-oxido-reductase deficiency|hyperlysinemia, type I|hyperlysinemia|lysine:Alpha-ketoglutarate reductase deficiency|lysine intolerance|hyperlysinemia (disease)|lysine alpha-ketoglutarate reductase deficiency|hyperlysinemia, type 1	http://purl.obolibrary.org/obo/MONDO_0009388	https://omim.org/entry/238700|DOID:9274|http://identifiers.org/snomedct/58558003|UMLS:C0268553|NCIT:C123433|Orphanet:2203	ordo_disease
MONDO:0009387	biolink:Disease	familial lipoprotein lipase deficiency	Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines.	OMIM:238600|SCTID:275598004|Orphanet:309015|DOID:14118|GARD:0012241|ICD9:272.3|NCIT:C84771|MESH:D008072	mondo.json	hyperlipoproteinemia, type 1|hyperchylomicronemia|lipoprotein lipase deficiency, familial|mixed hyperglyceridemia|familial lipoprotein lipase deficiency (disorder) [ambiguous]|lipd deficiency|hyperchylomicronemia, familial|hyperlipoproteinemia type I|hyperlipoproteinemia, type 1A|familial fat-induced hypertriglyceridemia|lipase D deficiency|chylomicronemia, familial|hyperlipemia, idiopathic, Burger-Grutz type|endogenous hypertriglyceridaemia|hyperlipoproteinemia, type I|LPL deficiency|familial hyperlipoproteinemia type I|Burger-Grutz syndrome|lipoprotein lipase deficiency|familial lipoprotein lipase deficiency with type I phenotype|type I hyperlipoproteinemia|Fredrickson type I lipaemia|familial LPL deficiency|high density lipoprotein cholesterol level QTL 11|familial hyperchylomicronemia|hyperlipemia, essential familial|familial chylomiconemia syndrome|hypercholesterinaemic xanthomatosis|Fredrickson type I hyperlipoproteinemia	http://purl.obolibrary.org/obo/MONDO_0009387	DOID:14118|https://omim.org/entry/238600|Orphanet:309015|NCIT:C84771|http://identifiers.org/snomedct/275598004|http://identifiers.org/mesh/D008072	gard_rare|ordo_clinical_subtype
MONDO:8000024	biolink:Disease	autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene.	DOID:0110119|UMLS:C3809928|OMIM:615559	mondo.json		http://purl.obolibrary.org/obo/MONDO_8000024	DOID:0110119|https://omim.org/entry/615559|UMLS:C3809928	
MONDO:0009386	biolink:Disease	hyperlexia		OMIM:238350|MESH:C565500	mondo.json	hyperlexia|compulsive reading|precocious reading	http://purl.obolibrary.org/obo/MONDO_0009386	http://identifiers.org/mesh/C565500|https://omim.org/entry/238350	
MONDO:0010385	biolink:Disease	X-linked lymphoproliferative disease due to XIAP deficiency	A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2.	MESH:C564469|Orphanet:538934|NCIT:C126295|OMIM:300635|GARD:0010916|UMLS:C1845076|DOID:0060706	mondo.json	lymphoproliferative syndrome, X-linked, 2|lymphoproliferative syndrome, X-linked, type 2|X-linked lymphoproliferative disease due to XIAP deficiency|XLP2|X-linked lymphoproliferative syndrome type 2|XIAP deficiency/XLPs|XIAP-related lymphoproliferative disease, X-linked|XIAP deficiency|lymphoproliferative syndrome, X-linked, 2, X-linked recessive|Xiap deficiency	http://purl.obolibrary.org/obo/MONDO_0010385	UMLS:C1845076|http://identifiers.org/mesh/C564469|NCIT:C126295|Orphanet:538934|DOID:0060706|https://omim.org/entry/300635	ordo_disease|gard_rare
MONDO:8000030	biolink:Disease	obsolete morphological anomaly		Orphanet:377791	mondo.json		http://purl.obolibrary.org/obo/MONDO_8000030	Orphanet:377791	
MONDO:0009385	biolink:Disease	hyperleucine-Isoleucinemia		UMLS:C0268574|SCTID:7046009|OMIM:238340|MESH:C562674	mondo.json	hyperleucine-Isoleucinemia	http://purl.obolibrary.org/obo/MONDO_0009385	http://identifiers.org/mesh/C562674|UMLS:C0268574|https://omim.org/entry/238340|http://identifiers.org/snomedct/7046009	
MONDO:0010384	biolink:Disease	hypospadias 1, X-linked		MESH:C567482|OMIM:300633|UMLS:C2678098	mondo.json	hypospadias 1, X-linked, X-linked recessive|HYSP1|hypospadias 1, X-linked	http://purl.obolibrary.org/obo/MONDO_0010384	UMLS:C2678098|http://identifiers.org/mesh/C567482|https://omim.org/entry/300633	
MONDO:0009384	biolink:Disease	Leydig cell hypoplasia, type 1	Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene.	OMIM:238320	mondo.json	hypergonadotropic hypogonadism, Male, due to Lhcgr defect|luteinizing hormone resistance, female|Leydig cell hypoplasia, complete|leydig cell hypoplasia with pseudohermaphroditism|Leydig cell hypoplasia with male pseudohermaphroditism|leydig cell hypoplasia with hypergonadotropic hypogonadism|Leydig cell hypoplasia, type I|Leydig cell hypoplasia, partial|Leydig cell agenesis|Leydig cell Hypoplasia, type 2|Leydig cell hypoplasia caused by mutation in LHCGR|LHCGR Leydig cell hypoplasia	http://purl.obolibrary.org/obo/MONDO_0009384	https://omim.org/entry/238320	
MONDO:0009383	biolink:Disease	transient familial neonatal hyperbilirubinemia		MESH:C562692|Orphanet:2312|GARD:0002791|OMIM:237900|GARD:0003304|UMLS:C0270210	mondo.json	breast milk jaundice|HBLRTFN|hyperbilirubinemia, familial transient neonatal|transient familial hyperbilirubinemia|hyperbilirubinemia, transient familial neonatal|hyperbilirubinemia transient familial neonatal|Lucey-Driscoll syndrome	http://purl.obolibrary.org/obo/MONDO_0009383	https://omim.org/entry/237900|http://identifiers.org/mesh/C562692|Orphanet:2312|UMLS:C0270210	gard_rare|ordo_disease
MONDO:0010387	biolink:Disease	obsolete invasive pneumococcal disease, recurrent isolated, 2		OMIM:300640	mondo.json		http://purl.obolibrary.org/obo/MONDO_0010387	https://omim.org/entry/300640	
MONDO:8000032	biolink:Disease	obsolete malformation syndrome		Orphanet:377789	mondo.json		http://purl.obolibrary.org/obo/MONDO_8000032	Orphanet:377789	
MONDO:0009382	biolink:Disease	hyperbilirubinemia, shunt, primary		OMIM:237800	mondo.json	PSHB|hyperbilirubinemia, shunt, primary	http://purl.obolibrary.org/obo/MONDO_0009382	https://omim.org/entry/237800	
MONDO:0010386	biolink:Disease	immunodeficiency 33	Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene.	GARD:0012915|OMIM:300636|MESH:C567070|MESH:C564468|UMLS:C1845073|Orphanet:319612|UMLS:C1970879	mondo.json	invasive pneumococcal disease, recurrent isolated caused by mutation in IKBKG|X-linked MSMD due to IKBKG deficiency|IKBKG X-linked mendelian susceptibility to mycobacterial diseases|atypical Mycobacteriosis, familial, X-linked 1|immunodeficiency 33, X-linked recessive|IMD33|immunodeficiency type 33|NF-kappa B essential modulator deficiency|invasive pneumococcal disease, recurrent isolated, type 2|X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency|X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency|familial X-linked 1 atypical mycobacteriosis|X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in IKBKG|NEMO deficiency syndrome|invasive pneumococcal disease, recurrent isolated, 2|IPD2|IKBKG invasive pneumococcal disease, recurrent isolated|X-linked MSMD due to NEMO deficiency|immunodeficiency 33, Mycobacteriosis, X-linked	http://purl.obolibrary.org/obo/MONDO_0010386	UMLS:C1845073|Orphanet:319612|UMLS:C1970879|http://identifiers.org/mesh/C564468|https://omim.org/entry/300636	predisposition|ordo_etiological_subtype
MONDO:8000031	biolink:Disease	obsolete subtype of a disorder		Orphanet:557494	mondo.json		http://purl.obolibrary.org/obo/MONDO_8000031	Orphanet:557494	
MONDO:0009381	biolink:Disease	hyperbilirubinemia, conjugated, type 3		SCTID:235906009|OMIM:237550|MESH:C562885|UMLS:C0400964	mondo.json	hyperbilirubinemia, conjugated, type III	http://purl.obolibrary.org/obo/MONDO_0009381	http://identifiers.org/mesh/C562885|UMLS:C0400964|http://identifiers.org/snomedct/235906009|https://omim.org/entry/237550	
MONDO:0010389	biolink:Disease	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency	Any X-linked mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene.	OMIM:300645|UMLS:C1970859|MESH:C567068|Orphanet:319623	mondo.json	atypical Mycobacteriosis, familial, X-linked 2|immunodeficiency type 34|immunodeficiency 34|immunodeficiency 34, Mycobacteriosis, X-linked|X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in CYBB|CYBB X-linked mendelian susceptibility to mycobacterial diseases|X-linked MSMD due to CYBB deficiency|immunodeficiency 34, mycobacteriosis, X-linked, X-linked recessive|IMD34	http://purl.obolibrary.org/obo/MONDO_0010389	https://omim.org/entry/300645|Orphanet:319623|http://identifiers.org/mesh/C567068|UMLS:C1970859	predisposition|ordo_etiological_subtype
MONDO:0010388	biolink:Disease	rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked		UMLS:C1845070|OMIM:300643|MESH:C564467	mondo.json	RESDX|rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked|ROLANDIC epilepsy, mental retardation, and speech dyspraxia, X-linked|ROLANDIC epilepsy, intellectual disability, and speech dyspraxia, X-linked|rolandic epilepsy, impaired intellectual development, and speech dyspraxia|rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	http://purl.obolibrary.org/obo/MONDO_0010388	https://omim.org/entry/300643|UMLS:C1845070|http://identifiers.org/mesh/C564467	
MONDO:0009380	biolink:Disease	Dubin-Johnson syndrome	Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.	SCTID:44553005|GARD:0002793|NCIT:C34741|GARD:0006289|UMLS:C0022350|OMIM:237500|MedDRA:10013800|Orphanet:234|MESH:D007566|DOID:12308	mondo.json	hyperbilirubinemia 2|hyperbilirubinemia type 2|Sprinz-Nelson syndrome|chronic idiopathic jaundice|hyperbilirubinemia, Dubin-Johnson type|Dubin-Johnson syndrome|conjugated hyperbilirubinemia|DJS|Dubin-Sprinz disease|Dubin Johnson syndrome	http://purl.obolibrary.org/obo/MONDO_0009380	http://identifiers.org/mesh/D007566|DOID:12308|UMLS:C0022350|http://identifiers.org/snomedct/44553005|Orphanet:234|NCIT:C34741|https://omim.org/entry/237500	ordo_disease|gard_rare
MONDO:0036976	biolink:Disease	benign epithelial neoplasm	A neoplasm arising from the epithelial cells. It is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign epithelial neoplasms remain confined to the original site of growth and only rarely metastasize to other anatomic sites.	NCIT:C4092|ICDO:8011/0|UMLS:C0334232|ICDO:8010/0	mondo.json	epithelioma, benign|benign epithelioma|epithelial neoplasm, benign|benign tumor of epithelium|benign epithelial tumor|benign tumor of the epithelium|benign neoplasm of epithelium|benign neoplasm of the epithelium|benign epithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0036976	NCIT:C4092|UMLS:C0334232	
HGNC:11503	biolink:NamedThing	SYNJ1			mondo.json		http://identifiers.org/hgnc/11503		
MONDO:0010381	biolink:Disease	Tn polyagglutination syndrome		OMIM:300622|DOID:0080520|MESH:C562719|UMLS:C0272137	mondo.json	Tn polyagglutination syndrome, somatic|Tn polyagglutination syndrome|galactosyltransferase deficiency|TNPS	http://purl.obolibrary.org/obo/MONDO_0010381	UMLS:C0272137|DOID:0080520|https://omim.org/entry/300622|http://identifiers.org/mesh/C562719	
MONDO:0010380	biolink:Disease	cataract, ataxia, short stature, and intellectual disability		GARD:0010222|UMLS:C1845094|OMIM:300619|MESH:C535345	mondo.json	cataract, ataxia, short stature, and mental retardation|cataracts, ataxia, short stature, and mental retardation|cataract, ataxia, short stature, and intellectual disability|Casm syndrome|cataracts, ataxia, short stature, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010380	UMLS:C1845094|http://identifiers.org/mesh/C535345|https://omim.org/entry/300619	
MONDO:0010383	biolink:Disease	fragile X syndrome	A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.	NCIT:C84717|SCTID:613003|MESH:D005600|OMIM:300624|DOID:14261|UMLS:C0016667|ICD9:759.83|MedDRA:10017324|Orphanet:908|GARD:0006464	mondo.json	FRAXA syndrome|primary ovarian insufficiency, fragile X-associated|fragile 10 intellectual disability syndrome|X-linked mental retardation and macroorchidism|X-linked intellectual disability and macroorchidism|fragile 10 premature ovarian failure|fragile 10 syndrome|FraX syndrome|fragile X intellectual disability syndrome|mental retardation, X-linked, associated with Marxq28|fragile X mental retardation syndrome|Martin-Bell syndrome|fragile X syndrome|marker 10 syndrome|fra(X) syndrome|intellectual disability, X-linked, associated with Marxq28|Fragile X syndrome, X-linked dominant|marker X syndrome|fragile 10 mental retardation syndrome|FXS	http://purl.obolibrary.org/obo/MONDO_0010383	NCIT:C84717|UMLS:C0016667|http://identifiers.org/snomedct/613003|DOID:14261|Orphanet:908|https://omim.org/entry/300624|http://identifiers.org/mesh/D005600	ordo_malformation_syndrome
MONDO:0010382	biolink:Disease	fragile X-associated tremor/ataxia syndrome	Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.	DOID:0050879|Orphanet:93256|NCIT:C126566|MESH:C564105|UMLS:C1839780|OMIM:300623|SCTID:448045004	mondo.json	Fragile X tremor/ataxia syndrome, X-linked dominant|FXTAS|FXTAS syndrome|fragile X tremor/ataxia syndrome|fragile 10 tremor/ataxia syndrome	http://purl.obolibrary.org/obo/MONDO_0010382	DOID:0050879|http://identifiers.org/mesh/C564105|UMLS:C1839780|http://identifiers.org/snomedct/448045004|NCIT:C126566|https://omim.org/entry/300623|Orphanet:93256	ordo_malformation_syndrome
MONDO:0022357	biolink:Disease	congenital acardia		GARD:0009823|ICD9:759.89|SCTID:205834002	mondo.json	acardia|congenital absence of the heart	http://purl.obolibrary.org/obo/MONDO_0022357	http://identifiers.org/snomedct/205834002	gard_rare
HGNC:11506	biolink:NamedThing	SYP			mondo.json		http://identifiers.org/hgnc/11506		
MONDO:8000034	biolink:Disease	obsolete disorder		Orphanet:557493	mondo.json		http://purl.obolibrary.org/obo/MONDO_8000034	Orphanet:557493	
MONDO:0009399	biolink:Disease	hyperphosphatemia, polyuria, and seizures		MESH:C565494|OMIM:239350|UMLS:C1855922	mondo.json	hyperphosphatemia, polyuria, and seizures	http://purl.obolibrary.org/obo/MONDO_0009399	http://identifiers.org/mesh/C565494|UMLS:C1855922|https://omim.org/entry/239350	
MONDO:8000033	biolink:Disease	obsolete group of disorders		Orphanet:557492	mondo.json		http://purl.obolibrary.org/obo/MONDO_8000033	Orphanet:557492	
MONDO:0009398	biolink:Disease	hyperphosphatasia with intellectual disability syndrome 1	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene.	OMIM:239300|UMLS:CN030519	mondo.json	glycosylphosphatidylinositol biosynthesis defect 2|hyperphosphatasia with mental retardation syndrome 1|hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGV|PIGV hyperphosphatasia-intellectual disability syndrome|Mabry syndrome|hyperphosphatasia with intellectual disability syndrome 1|HPMRS1|hyperphosphatasia with intellectual disability syndrome type 1|hyperphosphatasia with mental retardation syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0009398	UMLS:CN030519|https://omim.org/entry/239300	
MONDO:0009397	biolink:Disease	neonatal severe primary hyperparathyroidism	Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.	Orphanet:417|OMIM:239200|UMLS:C1832615|SCTID:715218009|NCIT:C131853|GARD:0002838|MESH:C563375	mondo.json	NSHPT|Nsph|hyperparathyroidism, neonatal severe primary|hyperparathyroidism, neonatal|neonatal severe hyperparathyroidism|hyperparathyroidism, neonatal severe	http://purl.obolibrary.org/obo/MONDO_0009397	http://identifiers.org/mesh/C563375|NCIT:C131853|http://identifiers.org/snomedct/715218009|https://omim.org/entry/239200|UMLS:C1832615|Orphanet:417	ordo_disease
HGNC:11509	biolink:NamedThing	SYT1			mondo.json		http://identifiers.org/hgnc/11509		
MONDO:0010374	biolink:Disease	retinitis pigmentosa 34	A retinitis pigmentosa that has material basis in variation in the chromosome region Xq28.	GARD:0010390|OMIM:300605|DOID:0110417|MESH:C564475|ICD10CM:H35.5|UMLS:C1845104	mondo.json	retinitis pigmentosa 34|RP 34|retinitis pigmentosa type 34|RP34	http://purl.obolibrary.org/obo/MONDO_0010374	https://omim.org/entry/300605|UMLS:C1845104|DOID:0110417|http://identifiers.org/mesh/C564475	gard_rare
MONDO:0009396	biolink:Disease	hyperparathyroidism, neonatal self-limited primary, with hypercalciuria		MESH:C565496|OMIM:239199|UMLS:C1855924	mondo.json	hyperparathyroidism, neonatal self-limited primary, with hypercalciuria	http://purl.obolibrary.org/obo/MONDO_0009396	UMLS:C1855924|https://omim.org/entry/239199|http://identifiers.org/mesh/C565496	
MONDO:0010373	biolink:Disease	premature ovarian failure 2B	Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene.	OMIM:300604|MESH:C564476|UMLS:C1845105	mondo.json	premature ovarian failure 2B, X-linked recessive|POF2B|premature ovarian failure type 2B|POF1B primary ovarian failure|premature ovarian failure 2B|primary ovarian failure caused by mutation in POF1B	http://purl.obolibrary.org/obo/MONDO_0010373	https://omim.org/entry/300604|UMLS:C1845105|http://identifiers.org/mesh/C564476	
MONDO:0009395	biolink:Disease	hyperostosis corticalis generalisata	Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.	NCIT:C131812|SCTID:59763006|GARD:0002833|Orphanet:3416|DOID:0080036|OMIM:239100	mondo.json	Van Buchem disease|VBCH|endosteal hyperostosis autosomal recessive|hyperphosphatasemia tarda|endosteal hyperostosis|VAN Buchem disease|van Buchem disease|SOST-related sclerosing bone dysplasia|hyperostosis corticalis generalisata|endosteal hyperostosis, autosomal recessive|van Buchem disease type 1	http://purl.obolibrary.org/obo/MONDO_0009395	http://identifiers.org/snomedct/59763006|NCIT:C131812|Orphanet:3416|https://omim.org/entry/239100|DOID:0080036	ordo_malformation_syndrome
HGNC:11510	biolink:NamedThing	SYT2			mondo.json		http://identifiers.org/hgnc/11510		
MONDO:0009394	biolink:Disease	juvenile Paget disease	Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.	OMIM:239000|NCIT:C131861|SCTID:9723006|Orphanet:2801|GARD:0002831|MESH:C537701	mondo.json	hyperphosphatasia, familial idiopathic|Paget disease of bone 5, juvenile-onset|PDB5|JPD|osteoectasia, familial|hyperphosphatasemia, chronic congenital idiopathic|JPG|Paget disease juvenile type|juvenile Paget's disease|hyperostosid corticalis deformans juvenilis|juvenile Pagets disease|juvenile Paget disease|familial hyperphosphatasia|familial osteoectasia|hyperostosis corticalis deformans juvenilis|hereditary hyperphosphatasia	http://purl.obolibrary.org/obo/MONDO_0009394	NCIT:C131861|http://identifiers.org/snomedct/9723006|https://omim.org/entry/239000|Orphanet:2801|http://identifiers.org/mesh/C537701	ordo_malformation_syndrome|gard_rare
MONDO:0010376	biolink:Disease	obsolete Brooks-Wisniewski-brown syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010376		
MONDO:0010375	biolink:Disease	developmental and epileptic encephalopathy, 8		DOID:0080215|OMIM:300607|Orphanet:163985|UMLS:C1845102|MESH:C564474	mondo.json	hyperekplexia and epilepsy|epileptic encephalopathy, early infantile, type 8|hyperekplexia-epilepsy syndrome|developmental and epileptic encephalopathy 8|epileptic encephalopathy, early infantile, 8|DEE8|early infantile epileptic encephalopathy 8|EIEE8	http://purl.obolibrary.org/obo/MONDO_0010375	https://omim.org/entry/300607|UMLS:C1845102|DOID:0080215|http://identifiers.org/mesh/C564474|Orphanet:163985	ordo_disease
MONDO:0009393	biolink:Disease	ornithine translocase deficiency	A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction.	Orphanet:415|SCTID:30287008|UMLS:C0268540|NCIT:C129029|MESH:C538380|DOID:0050720|OMIM:238970|GARD:0002830	mondo.json	ornithine translocase deficiency syndrome|ornithine translocase deficiency|hyperornithinemia-hyperammonemia-homocitrullinuria syndrome|triple H syndrome|HHH syndrome|HHHS|Hhh syndrome|HHH|hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome|ornithine carrier deficiency|hyperornithinemia-hyperammonemia-homocitrullinemia syndrome|ORNT1 deficiency	http://purl.obolibrary.org/obo/MONDO_0009393	UMLS:C0268540|http://identifiers.org/mesh/C538380|NCIT:C129029|https://omim.org/entry/238970|Orphanet:415|DOID:0050720|http://identifiers.org/snomedct/30287008	ordo_disease
MONDO:0010378	biolink:Disease	X-linked hereditary sensory and autonomic neuropathy with hearing loss	This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.	MESH:C564472|SCTID:719838008|OMIM:300614|Orphanet:139583|UMLS:C1845095|UMLS:C4304400|GARD:0012731	mondo.json	X-linked auditory neuropathy with peripheral sensory neuropathy type 1|DFNX5|deafness, X-linked 5, X-linked recessive|deafness, X-linked 5|auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy|X-linked hereditary sensory and autonomic neuropathy with deafness|X-linked HSAN with deafness	http://purl.obolibrary.org/obo/MONDO_0010378	https://omim.org/entry/300614|Orphanet:139583|http://identifiers.org/snomedct/719838008|UMLS:C1845095|UMLS:C4304400|http://identifiers.org/mesh/C564472	gard_rare|ordo_disease
MONDO:0009392	biolink:Disease	hyperopia, high		OMIM:238950|MESH:C565497	mondo.json	hyperopia, high	http://purl.obolibrary.org/obo/MONDO_0009392	https://omim.org/entry/238950|http://identifiers.org/mesh/C565497	
HGNC:11515	biolink:NamedThing	TBXT			mondo.json		http://identifiers.org/hgnc/11515		
MONDO:0010377	biolink:Disease	myopia 13, X-linked		OMIM:300613|UMLS:C1845096|MESH:C564473	mondo.json	MYP13|myopia 13|myopia 13, X-linked	http://purl.obolibrary.org/obo/MONDO_0010377	https://omim.org/entry/300613|UMLS:C1845096|http://identifiers.org/mesh/C564473	
MONDO:0009391	biolink:Disease	hypermetabolism due to defect in mitochondria		OMIM:238800|MESH:C565498|UMLS:C1855926	mondo.json	hypermetabolism due to defect in mitochondria	http://purl.obolibrary.org/obo/MONDO_0009391	https://omim.org/entry/238800|http://identifiers.org/mesh/C565498|UMLS:C1855926	
MONDO:0009390	biolink:Disease	hyperlysinuria with hyperammonemia		SCTID:342553006|ICD9:270.7|OMIM:238750|UMLS:C0268555	mondo.json	hyperlysinemia, periodic|hyperlysinuria with hyperammonemia	http://purl.obolibrary.org/obo/MONDO_0009390	http://identifiers.org/snomedct/342553006|UMLS:C0268555|https://omim.org/entry/238750	
MONDO:0010379	biolink:Disease	Brunner syndrome	Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.	GARD:0003531|DOID:0060693|OMIM:300615|UMLS:C0796275|MESH:C563156|Orphanet:3057|SCTID:718210003	mondo.json	Brunner syndrome, X-linked recessive|monoamine oxidase A deficiency|Brunner syndrome|antisocial behavior, susceptibility to|BRNRS|antisocial behavior, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0010379	http://identifiers.org/mesh/C563156|https://omim.org/entry/300615|DOID:0060693|Orphanet:3057|http://identifiers.org/snomedct/718210003|UMLS:C0796275	ordo_disease
MONDO:0022349	biolink:Disease	congenital absence of septum pellucidum	The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures, and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding. Instead, absence of the septum pellucidum is associated with other conditions such as septo-optic dysplasia. Treatment options for the condition vary depending on the underlying disorder. Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI. Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally). If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made.	MESH:C535562|ICD9:742.4|GARD:0009253|SCTID:253143001	mondo.json	absence of septum pellucidum	http://purl.obolibrary.org/obo/MONDO_0022349	http://identifiers.org/mesh/C535562|http://identifiers.org/snomedct/253143001	gard_rare
GO:0090594	biolink:NamedThing	inflammatory response to wounding	The immediate defensive reaction by vertebrate tissue to injury caused by chemical or physical agents.		mondo.json		http://purl.obolibrary.org/obo/GO_0090594		
MONDO:0010370	biolink:Disease	Cornelia de Lange syndrome 2	An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation.	NCIT:C75485|UMLS:C1802395|OMIM:300590|DOID:0080506	mondo.json	Cdls, X-linked|Cornelia de Lange syndrome 2, X-linked dominant|SMC1A Cornelia de Lange syndrome|Cornelia de Lange syndrome caused by mutation in SMC1A|Cornelia De Lange syndrome type 2|Cornelia De Lange syndrome, X-linked|Cornelia DE Lange syndrome 2|Cornelia de Lange syndrome 2|CDLS2|X-linked Cornelia De Lange syndrome	http://purl.obolibrary.org/obo/MONDO_0010370	DOID:0080506|UMLS:C1802395|NCIT:C75485|https://omim.org/entry/300590	
GO:0090596	biolink:NamedThing	sensory organ morphogenesis	Morphogenesis of a sensory organ. A sensory organ is defined as a tissue or set of tissues that work together to receive and transmit signals from external or internal stimuli. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions.		mondo.json		http://purl.obolibrary.org/obo/GO_0090596		
MONDO:0010372	biolink:Disease	obsolete Clark-Baraitser syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010372		
MONDO:0010371	biolink:Disease	Aland island eye disease	An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.	ICD10CM:H35.5|OMIM:300600|MESH:C562664|SCTID:266455006|Orphanet:178333|GARD:0010574|DOID:0050630|UMLS:C0268505	mondo.json	ALAND ISLAND eye disease|Aland island eye disease|FORSIUS-Eriksson type ocular albinism|Åland Islands eye disease|AIED|Forsius-Eriksson syndrome|Forsius Eriksson type ocular albinism|Forsius-Eriksson type ocular albinism	http://purl.obolibrary.org/obo/MONDO_0010371	http://identifiers.org/mesh/C562664|UMLS:C0268505|Orphanet:178333|DOID:0050630|http://identifiers.org/snomedct/266455006|https://omim.org/entry/300600	ordo_disease
MONDO:0000953	biolink:Disease	cancer of short bone of lower limb		UMLS:C0153518|ICD9:170.8|DOID:10151|ICD10CM:C40.3|SCTID:712525007	mondo.json	malignant neoplasm of short bones of leg|malignant neoplasm of short bone of lower limb	http://purl.obolibrary.org/obo/MONDO_0000953	DOID:10151|UMLS:C0153518|http://purl.bioontology.org/ontology/ICD10CM/C40.3|http://identifiers.org/snomedct/712525007	
MONDO:0000952	biolink:Disease	cancer of long bone of lower limb	A cancer that involves the hindlimb long bone.	ICD10CM:C40.2|SCTID:449627008|ICD9:170.7|DOID:10149|UMLS:C3265932	mondo.json	malignant neoplasm of long bones of leg|long bones of lower limb cancer|hindlimb long bone cancer|cancer of hindlimb long bone|malignant hindlimb long bone neoplasm|malignant neoplasm of hindlimb long bone	http://purl.obolibrary.org/obo/MONDO_0000952	DOID:10149|http://purl.bioontology.org/ontology/ICD10CM/C40.2|http://identifiers.org/snomedct/449627008|UMLS:C3265932	
MONDO:0000951	biolink:Disease	thymus lymphoma	A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma.	NCIT:C6451|UMLS:C1336745|EFO:1000054|DOID:10146	mondo.json	lymphoma of the Thymus|Thymus lymphoma|primary thymic lymphoma|lymphoma of thymus|thymic lymphoma|lymphoma of Thymus|thymus lymphoma	http://purl.obolibrary.org/obo/MONDO_0000951	UMLS:C1336745|NCIT:C6451|DOID:10146	
MONDO:0000950	biolink:Disease	asthenopia	Term generally used to describe complaints related to refractive error, ocular muscle imbalance, including pain or aching around the eyes, burning and itchiness of the eyelids, ocular fatigue, and headaches.	DOID:10141|UMLS:C0004095|MESH:D001248	mondo.json	accommodative strain	http://purl.obolibrary.org/obo/MONDO_0000950	http://identifiers.org/mesh/D001248|UMLS:C0004095	
MONDO:0012935	biolink:Disease	leukemia, chronic lymphocytic, susceptibility to, 4		OMIM:612558	mondo.json	Clls4|leukemia, chronic lymphocytic, susceptibility to, type 4|leukemia, chronic lymphocytic, susceptibility to, 4|leukemia, chronic lymphocytic susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0012935	https://omim.org/entry/612558	predisposition
MONDO:0012936	biolink:Disease	leukemia, chronic lymphocytic, susceptibility to, 5		OMIM:612559	mondo.json	Clls5|leukemia, chronic lymphocytic, susceptibility to, type 5|leukemia, chronic lymphocytic, susceptibility to, 5|leukemia, chronic lymphocytic susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0012936	https://omim.org/entry/612559	predisposition
MONDO:0012933	biolink:Disease	breast-ovarian cancer, familial, susceptibility to, 2	Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene.	OMIM:612555	mondo.json	susceptibility to familial breast-ovarian cancer 2|breast-ovarian cancer, familial, 2|breast-ovarian cancer, familial, susceptibility to, type 2|BROVCA2|BRCA2 hereditary breast ovarian cancer syndrome|breast cancer, familial, susceptibility to, 2|hereditary breast ovarian cancer syndrome caused by mutation in BRCA2|breast-ovarian cancer, familial, susceptibility to, 2|ovarian cancer, familial, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0012933	https://omim.org/entry/612555	predisposition
MONDO:0012934	biolink:Disease	leukemia, chronic lymphocytic, susceptibility to, 3		OMIM:612557	mondo.json	Clls3|leukemia, chronic lymphocytic, susceptibility to, type 3|leukemia, chronic lymphocytic, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0012934	https://omim.org/entry/612557	predisposition
MONDO:0012939	biolink:Disease	Diamond-Blackfan anemia 8	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene.	OMIM:612563|MESH:C567253|UMLS:C2675511	mondo.json	Diamond-Blackfan anemia caused by mutation in RPS7|DBA8|Diamond-Blackfan Anemia type 8|Diamond-Blackfan anemia 8|RPS7 Diamond-Blackfan anemia	http://purl.obolibrary.org/obo/MONDO_0012939	https://omim.org/entry/612563|http://identifiers.org/mesh/C567253|UMLS:C2675511	
MONDO:0012937	biolink:Disease	Diamond-Blackfan anemia 6	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene.	OMIM:612561	mondo.json	Aase-Smith syndrome 2|DBA6|Diamond-Blackfan Anemia type 6|RPL5 Diamond-Blackfan anemia|Diamond-Blackfan anemia 6|Diamond-Blackfan anemia caused by mutation in RPL5	http://purl.obolibrary.org/obo/MONDO_0012937	https://omim.org/entry/612561	
MONDO:0012938	biolink:Disease	Diamond-Blackfan anemia 7	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene.	OMIM:612562|MESH:C567254|UMLS:C2675512	mondo.json	RPL11 Diamond-Blackfan anemia|DBA7|Diamond-Blackfan anemia caused by mutation in RPL11|Diamond-Blackfan Anemia type 7|Diamond-Blackfan anemia 7	http://purl.obolibrary.org/obo/MONDO_0012938	https://omim.org/entry/612562|http://identifiers.org/mesh/C567254|UMLS:C2675512	
HGNC:4452	biolink:NamedThing	GPC4			mondo.json		http://identifiers.org/hgnc/4452		
HGNC:4451	biolink:NamedThing	GPC3			mondo.json		http://identifiers.org/hgnc/4451		
MONDO:0012942	biolink:Disease	lung cancer susceptibility 3		UMLS:C2675497|OMIM:612571	mondo.json	LNCR3|adenocarcinoma of lung, susceptibility to|lung cancer susceptibility 3	http://purl.obolibrary.org/obo/MONDO_0012942	https://omim.org/entry/612571|UMLS:C2675497	
MONDO:0012943	biolink:Disease	retinitis pigmentosa 46	Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene.	OMIM:612572|DOID:0110409|ICD10CM:H35.5|MESH:C567249|UMLS:C2675496	mondo.json	retinitis pigmentosa type 46|RP46|retinitis pigmentosa 46|IDH3B retinitis pigmentosa|retinitis pigmentosa, autosomal recessive, Idh3B-related|retinitis pigmentosa caused by mutation in IDH3B	http://purl.obolibrary.org/obo/MONDO_0012943	https://omim.org/entry/612572|http://identifiers.org/mesh/C567249|UMLS:C2675496|DOID:0110409	
MONDO:0012940	biolink:Disease	inflammatory bowel disease 24	An inflammatory bowel disease that has material basis in variation in the chromosome 20q13.	DOID:0110908|UMLS:C2675509|OMIM:612566|MESH:C567252	mondo.json	inflammatory bowel disease type 24|inflammatory bowel disease 24|IBD24	http://purl.obolibrary.org/obo/MONDO_0012940	https://omim.org/entry/612566|http://identifiers.org/mesh/C567252|UMLS:C2675509|DOID:0110908	
MONDO:0012941	biolink:Disease	inflammatory bowel disease 25	Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene.	DOID:0110909|MESH:C567251|UMLS:C2675508|OMIM:612567	mondo.json	inflammatory bowel disease, early-onset, autosomal recessive|inflammatory bowel disease 25, autosomal recessive|IL10RB inflammatory bowel disease|early onset autosomal recessive inflammatory bowel disease 25|inflammatory bowel disease 25, early onset, autosomal recessive|inflammatory bowel disease type 25|IBD25|inflammatory bowel disease caused by mutation in IL10RB	http://purl.obolibrary.org/obo/MONDO_0012941	https://omim.org/entry/612567|http://identifiers.org/mesh/C567251|UMLS:C2675508|DOID:0110909	
MONDO:0000946	biolink:Disease	psychologic vaginismus	Involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause.	ICD9:306.51|DOID:10131|SCTID:71787009	mondo.json	non-organic vaginismus|psychogenic vaginismus|functional vaginismus	http://purl.obolibrary.org/obo/MONDO_0000946	http://identifiers.org/snomedct/71787009|DOID:10131	
MONDO:0024913	biolink:Disease	cattle disease	Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus.	MESH:D002418|UMLS:C0007453	mondo.json	cattle disease|disease, cattle|disease, bovine|bovine disease|diseases, cattle|diseases, bovine|bovine diseases	http://purl.obolibrary.org/obo/MONDO_0024913	http://identifiers.org/mesh/D002418|UMLS:C0007453	
MONDO:0000945	biolink:Disease	venous insufficiency	Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with edema and sometimes with venous stasis ulcers at the ankle.	UMLS:C0042485|MESH:D014689|HP:0005293|ICD9:459.81|DOID:10128|SCTID:20696009	mondo.json	peripheral venous insufficiency|venous insufficiency|venous insufficiency (disease)	http://purl.obolibrary.org/obo/MONDO_0000945	DOID:10128|http://identifiers.org/snomedct/20696009|http://identifiers.org/mesh/D014689|UMLS:C0042485	
MONDO:0024912	biolink:Disease	cat disease	Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as cheetahs; lions; tigers, cougars, panthers, leopards, and other Felidae for which the heading carnivora is used.	MESH:D002371|UMLS:C0007350	mondo.json	Feline disease|diseases, Feline|diseases, Cat|cat disease|disease, Cat|Feline diseases|disease, Feline	http://purl.obolibrary.org/obo/MONDO_0024912	http://identifiers.org/mesh/D002371|UMLS:C0007350	
IAO:0000598	biolink:NamedThing	has ID policy for	Relating an ontology used to record id policy to the ontology namespace whose policy it manages		mondo.json		http://purl.obolibrary.org/obo/IAO_0000598		
MONDO:0000944	biolink:Disease	cerebral artery occlusion		ICD9:434|SCTID:20059004|ICD9:434.9|ICD9:434.91|DOID:10127|ICD9:434.90	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000944	DOID:10127|http://identifiers.org/snomedct/20059004	
HGNC:4458	biolink:NamedThing	GPI			mondo.json		http://identifiers.org/hgnc/4458		
MONDO:0000943	biolink:Disease	acute hydrops keratoconus		DOID:10125|UMLS:C0339286|SCTID:111523009|ICD9:371.62	mondo.json	acute corneal hydrops|keratoconus, acute hydrops|acute hydrops of cornea	http://purl.obolibrary.org/obo/MONDO_0000943	DOID:10125|http://identifiers.org/snomedct/111523009|UMLS:C0339286	
IAO:0000599	biolink:NamedThing	has ID prefix	Relates an ontology used to record id policy to a prefix concatenated with an integer in the id range (left padded with "0"s to make this many digits) to construct an ID for a term being created.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000599		
HGNC:4456	biolink:NamedThing	GPD2			mondo.json		http://identifiers.org/hgnc/4456		
IAO:0000596	biolink:NamedThing	has ID digit count	Relates an ontology used to record id policy to the number of digits in the URI. The URI is: the 'has ID prefix" annotation property value concatenated with an integer in the id range (left padded with "0"s to make this many digits)		mondo.json		http://purl.obolibrary.org/obo/IAO_0000596		
MONDO:0000949	biolink:Disease	conjunctival degeneration		DOID:10139|ICD9:372.50|SCTID:40787005|UMLS:C0155160	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000949	UMLS:C0155160|http://identifiers.org/snomedct/40787005|DOID:10139	
IAO:0000597	biolink:NamedThing	has ID range allocated to	Relates a datatype that encodes a range of integers to the name of the person or organization who can use those ids constructed in that range to define new terms		mondo.json		http://purl.obolibrary.org/obo/IAO_0000597		
HGNC:4455	biolink:NamedThing	GPD1			mondo.json		http://identifiers.org/hgnc/4455		
MONDO:0000948	biolink:Disease	xerophthalmia	Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency, Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma.	DOID:10138|ICD9:375.15|NCIT:C34503|MESH:D014985|SCTID:363677007|UMLS:C0043349|UMLS:C3665609	mondo.json	conjunctival xerosis	http://purl.obolibrary.org/obo/MONDO_0000948	DOID:10138|http://identifiers.org/snomedct/363677007|UMLS:C0043349|UMLS:C3665609|http://identifiers.org/mesh/D014985|NCIT:C34503	
MONDO:0024919	biolink:Disease	dog disease	Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, wolves; foxes; and other Canidae for which the heading carnivora is used.	UMLS:C0012979|MESH:D004283	mondo.json	diseases, Dog|disease, canine|dog disease|canine disease|disease, Dog|diseases, canine|canine diseases	http://purl.obolibrary.org/obo/MONDO_0024919	UMLS:C0012979|http://identifiers.org/mesh/D004283	
HGNC:4454	biolink:NamedThing	GPC6			mondo.json		http://identifiers.org/hgnc/4454		
MONDO:0000947	biolink:Disease	psychosexual disorder		SCTID:56627002|ICD9:302.89|ICD9:302.79|ICD9:302.9|DOID:10132	mondo.json	non-organic sexual dysfunction	http://purl.obolibrary.org/obo/MONDO_0000947	DOID:10132|http://identifiers.org/snomedct/56627002	
MONDO:0000960	biolink:Disease	diabetic peripheral angiopathy	Diabetic angiopathy is a form of angiopathy associated with diabetic complications.	ICD9:443.81|ICD9:250.7|MESH:D003925|EFO:1000896|DOID:10182|SCTID:127014009|UMLS:C0011875|UMLS:C0011871|NCIT:C35610|DOID:11713	mondo.json	diabetic angiopathy|diabetic vascular disorder	http://purl.obolibrary.org/obo/MONDO_0000960	http://identifiers.org/mesh/D003925|NCIT:C35610|http://identifiers.org/snomedct/127014009|UMLS:C0011875|UMLS:C0011871|DOID:11713	
MONDO:0000964	biolink:Disease	skin lipoma	A benign or malignant adipose tissue neoplasm of the skin.	NCIT:C4616|DOID:10188|SCTID:255187008|SCTID:93159009|ICD9:214.1|ICD9:214.0	mondo.json	lipoma of the skin|skin lipoma|cutaneous lipomatous tumor|cutaneous lipoma|zone of skin lipoma|lipoma of face|lipoma of skin|lipoma of zone of skin	http://purl.obolibrary.org/obo/MONDO_0000964	NCIT:C4616|http://identifiers.org/snomedct/255187008|DOID:10188	
MONDO:0000963	biolink:Disease	esophageal lipoma	A benign adipose tissue neoplasm of the esophagus. Clinical presentation includes obstruction, dysphagia, regurgitation, vomiting and reflux. It may be associated with aspiration and consecutive respiratory infections.	DOID:10187|NCIT:C5701|UMLS:C1333455	mondo.json	esophagus lipoma|esophageal lipoma|lipoma of esophagus|lipoma of the esophagus	http://purl.obolibrary.org/obo/MONDO_0000963	UMLS:C1333455|DOID:10187|NCIT:C5701	
NCBITaxon:6843	biolink:OrganismalEntity	Chelicerata		GC_ID:1	mondo.json	chelicerates	http://purl.obolibrary.org/obo/NCBITaxon_6843		
MONDO:0000962	biolink:Disease	spindle cell lipoma	A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity.	SCTID:404058008|UMLS:C0334474|ICDO:8857/0|DOID:10184|NCIT:C4254	mondo.json	spindle cell lipoma (morphologic abnormality)|spindle cell lipoma	http://purl.obolibrary.org/obo/MONDO_0000962	UMLS:C0334474|http://identifiers.org/snomedct/404058008|NCIT:C4254|DOID:10184	
MONDO:0000961	biolink:Disease	endobronchial lipoma	A rare benign adipose tissue neoplasm located within the lumen of a bronchus. It is predominantly found in males and usually originates within the fatty tissue between bronchial cartilage. May cause irreversible pulmonary damage distally. Two-thirds of the tumors occur on the right side and most are located on the first three subdivisions of the tracheobronchial tree.	UMLS:C0852937|DOID:10183|NCIT:C5063	mondo.json	endobronchial lipoma	http://purl.obolibrary.org/obo/MONDO_0000961	NCIT:C5063|DOID:10183|UMLS:C0852937	
MONDO:0012924	biolink:Disease	Diamond-Blackfan anemia 4	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene.	OMIM:612527|MESH:C567281|UMLS:C2675860	mondo.json	Diamond-Blackfan Anemia type 4|RPS17 Diamond-Blackfan anemia|Diamond-Blackfan anemia 4|Diamond-Blackfan anemia caused by mutation in RPS17|DBA4	http://purl.obolibrary.org/obo/MONDO_0012924	https://omim.org/entry/612527|http://identifiers.org/mesh/C567281|UMLS:C2675860	
MONDO:0012925	biolink:Disease	Diamond-Blackfan anemia 5	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene.	UMLS:C2675859|OMIM:612528|MESH:C567280	mondo.json	RPL35A Diamond-Blackfan anemia|Diamond-Blackfan anemia caused by mutation in RPL35A|Diamond-Blackfan Anemia type 5|Diamond-Blackfan anemia 5|DBA5	http://purl.obolibrary.org/obo/MONDO_0012925	https://omim.org/entry/612528|http://identifiers.org/mesh/C567280|UMLS:C2675859	
MONDO:0036915	biolink:Disease	benign ovarian mucinous tumor	A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma.	NCIT:C40039|EFO:1000115|UMLS:C1511100	mondo.json	benign ovarian mucinous tumor|ovarian mucinous neoplasm, benign|benign ovarian mucinous neoplasm	http://purl.obolibrary.org/obo/MONDO_0036915	NCIT:C40039|UMLS:C1511100	
MONDO:0012922	biolink:Disease	pyloric stenosis, infantile hypertrophic, 5		UMLS:C2675862|MESH:C567283|OMIM:612525	mondo.json	infantile hypertrophic pyloric stenosis type 5|IHPS5|pyloric stenosis, infantile hypertrophic, 5	http://purl.obolibrary.org/obo/MONDO_0012922	https://omim.org/entry/612525|http://identifiers.org/mesh/C567283|UMLS:C2675862	
MONDO:0012923	biolink:Disease	congenital generalized lipodystrophy type 3	Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene.	DOID:0111137|UMLS:C2675861|MESH:C567282|OMIM:612526|GARD:0013389	mondo.json	CAV1 congenital generalized lipodystrophy (disease)|type 3 Berardinelli-Seip congenital lipodystrophy|lipodystrophy, Berardinelli-Seip congenital, type 3|BSCL3|Berardinelli-Seip congenital lipodystrophy, type 3|Berardinelli-Seip congenital lipodystrophy type 3|CGL3|lipodystrophy, congenital generalized, type 3|congenital generalized lipodystrophy (disease) caused by mutation in CAV1	http://purl.obolibrary.org/obo/MONDO_0012923	https://omim.org/entry/612526|http://identifiers.org/mesh/C567282|DOID:0111137|UMLS:C2675861	gard_rare
MONDO:0012928	biolink:Disease	hereditary spastic paraplegia 42	Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.	SCTID:763070001|DOID:0110794|MESH:C567262|UMLS:C2675528|Orphanet:171863|OMIM:612539	mondo.json	autosomal dominant spastic paraplegia 42|autosomal dominant spastic paraplegia type 42|spastic paraplegia 42, autosomal dominant|SPG42|SLC33A1 autosomal dominant pure spastic paraplegia|autosomal dominant pure spastic paraplegia caused by mutation in SLC33A1|hereditary spastic paraplegia type 42	http://purl.obolibrary.org/obo/MONDO_0012928	DOID:0110794|https://omim.org/entry/612539|http://identifiers.org/snomedct/763070001|Orphanet:171863|http://identifiers.org/mesh/C567262|UMLS:C2675528	ordo_disease
MONDO:0012929	biolink:Disease	Compton-North congenital myopathy		OMIM:612540|MESH:C567261|Orphanet:210163|UMLS:C2675527|DOID:0080101	mondo.json	congenital lethal myopathy, Compton-North type|Compton-North congenital myopathy|myopathy, congenital, Compton-NORTH|MYPCN	http://purl.obolibrary.org/obo/MONDO_0012929	Orphanet:210163|https://omim.org/entry/612540|http://identifiers.org/mesh/C567261|DOID:0080101|UMLS:C2675527	ordo_disease
MONDO:0036918	biolink:Disease	punctate acrokeratoderma freckle-like pigmentation		Orphanet:99710	mondo.json		http://purl.obolibrary.org/obo/MONDO_0036918	Orphanet:99710	ordo_disease
MONDO:0012926	biolink:Disease	amelogenesis imperfecta hypomaturation type 2A2	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene.	MESH:C567279|OMIM:612529|UMLS:C2675858|DOID:0110060	mondo.json	amelogenesis imperfecta, type IIA2|AI2A2|amelogenesis imperfecta pigmented hypomaturation type 2|MMP20 amelogenesis imperfecta|amelogenesis imperfecta caused by mutation in MMP20|amelogenesis imperfecta, hypomaturation type, IIA2|amelogenesis imperfecta, pigmented hypomaturation type, 2|amelogenesis imperfecta hypomaturation type IIA2|amelogenesis imperfecta type IIA2	http://purl.obolibrary.org/obo/MONDO_0012926	UMLS:C2675858|https://omim.org/entry/612529|http://identifiers.org/mesh/C567279|DOID:0110060	
MONDO:0012927	biolink:Disease	chromosome 1q41-q42 deletion syndrome	1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.	Orphanet:250999|GARD:0003738|UMLS:C2675857|SCTID:716515000|UMLS:C4274528|OMIM:612530|DOID:0060412	mondo.json	holoprosencephaly 10|chromosome 1q41-q42 deletion syndrome|1q41q42 microdeletion syndrome|Del(1)(q41q42)|monosomy 1q41-q42|chromosome 1q41-q42 deletion syndrome, isolated cases|1q41-q42 deletion syndrome|deletion 1q41-q42|1q41-q42 microdeletion syndrome|monosomy 1q41q42	http://purl.obolibrary.org/obo/MONDO_0012927	UMLS:C2675857|DOID:0060412|https://omim.org/entry/612530|Orphanet:250999|UMLS:C4274528|http://identifiers.org/snomedct/716515000	gard_rare|ordo_malformation_syndrome
MONDO:0012931	biolink:Disease	focal segmental glomerulosclerosis 4, susceptibility to	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the APOL1 gene.	OMIM:612551	mondo.json	focal segmental glomerulosclerosis caused by mutation in APOL1|focal segmental glomerulosclerosis 4, susceptibility to|glomerulosclerosis, focal segmental, 4, susceptibility to|APOL1 focal segmental glomerulosclerosis|FSGS4|end-stage renal disease, nondiabetic, susceptibility to|susceptibility to focal segmental glomerulosclerosis 4	http://purl.obolibrary.org/obo/MONDO_0012931	https://omim.org/entry/612551	predisposition
MONDO:0012932	biolink:Disease	myopia 16, autosomal dominant		MESH:C567259|OMIM:612554|UMLS:C2675523	mondo.json	MYP16|myopia 16, autosomal dominant|myopia 16	http://purl.obolibrary.org/obo/MONDO_0012932	https://omim.org/entry/612554|http://identifiers.org/mesh/C567259|UMLS:C2675523	
MONDO:0012930	biolink:Disease	autosomal recessive severe congenital neutropenia due to G6PC3 deficiency		Orphanet:331176|UMLS:C2675526|OMIM:612541	mondo.json	pulmonary arterial hypertension, leukopenia, and atrial septal defect|neutropenia, severe congenital 4, autosomal recessive|severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome|SCN4|severe congenital neutropenia type 4|Dursun syndrome|autosomal recessive severe congenital neutropenia due to G6PC3 deficiency|neutropenia, severe congenital, 4, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0012930	https://omim.org/entry/612541|UMLS:C2675526|Orphanet:331176	ordo_disease
MONDO:0000957	biolink:Disease	lacrimal passage granuloma		DOID:10174|SCTID:417563003|ICD9:375.81|UMLS:C0155253	mondo.json	granuloma of lacrimal passages	http://purl.obolibrary.org/obo/MONDO_0000957	DOID:10174|http://identifiers.org/snomedct/417563003|UMLS:C0155253	
MONDO:0000956	biolink:Disease	small intestine cancer	A primary or metastatic malignant neoplasm involving the small intestine.	DOID:10154|ICD9:152.9|GARD:0009385|NCIT:C7523|UMLS:C0153425	mondo.json	malignant tumor of small bowel|malignant neoplasm of the small intestine|malignant small bowel neoplasm|malignant small intestine tumor|malignant small intestine neoplasm|small intestine cancer|malignant tumor of the small intestine|malignant tumor of small intestine|malignant neoplasm of the small bowel|malignant neoplasms of the small intestine|small bowel tumors|malignant neoplasm of small bowel|malignant small bowel tumor|cancer of small intestine|malignant small intestinal neoplasm|malignant tumor of the small bowel|malignant neoplasm of small intestine	http://purl.obolibrary.org/obo/MONDO_0000956	DOID:10154|UMLS:C0153425|NCIT:C7523	gard_rare
MONDO:0000955	biolink:Disease	ileum cancer	A malignant neoplasm involving the ileum	DOID:10153|ICD9:152.2	mondo.json	cancer of ileum|ileum cancer|malignant ileum neoplasm|malignant neoplasm of ileum	http://purl.obolibrary.org/obo/MONDO_0000955	DOID:10153	
MONDO:0000954	biolink:Disease	Meckel diverticulum cancer	A cancer involving a Meckel's diverticulum.	UMLS:C0153429|ICD9:152.3|DOID:10152|SCTID:187752007	mondo.json	malignant neoplasm of Meckel's diverticulum|Meckel's diverticulum cancer|malignant Meckel's diverticulum neoplasm|Meckel diverticulum cancer|cancer of Meckel's diverticulum	http://purl.obolibrary.org/obo/MONDO_0000954	DOID:10152|UMLS:C0153429|http://identifiers.org/snomedct/187752007	
MONDO:0024905	biolink:Disease	bird disease	Diseases of birds not considered poultry, therefore usually found in zoos, parks, and the wild. The concept is differentiated from poultry diseases which is for birds raised as a source of meat or eggs for human consumption, and usually found in barnyards, hatcheries, etc.	MESH:D001715|UMLS:C0005591	mondo.json	disease, Avian|Avian disease|bird disease|disease, Bird|diseases, Avian|Avian diseases|diseases, Bird	http://purl.obolibrary.org/obo/MONDO_0024905	UMLS:C0005591|http://identifiers.org/mesh/D001715	
MONDO:0000959	biolink:Disease	malignant hypertensive renal disease		DOID:10177|SCTID:65443008|ICD9:403.00|UMLS:C0155593	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000959	UMLS:C0155593|http://identifiers.org/snomedct/65443008|DOID:10177	
MONDO:0000958	biolink:Disease	neuroretinitis	Neuroretinitis is an inflammation of the neural retina and optic nerve. Pathology: Direct invasion or autoimmune activation against the optic nerve may cause optic nerve vascular inflammation with secondary inflammation and edema in the nerve fiber layer of the retina.	DOID:10176|ICD9:363.05|UMLS:C0154874|MESH:D012173	mondo.json	focal retinitis and retinochoroiditis, juxtapapillary|Juxtapapillary focal retinitis and retinochoroiditis|papilloretinitis	http://purl.obolibrary.org/obo/MONDO_0000958	DOID:10176|UMLS:C0154874	
MONDO:0012919	biolink:Disease	type 1 diabetes mellitus 20	Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene.	UMLS:C2675866|DOID:0110757|MESH:C567286|OMIM:612520	mondo.json	insulin-dependent diabetes mellitus 20|type 1 diabetes mellitus caused by mutation in HNF1A|diabetes mellitus, insulin-dependent, 20|diabetes mellitus, insulin-dependent, type 20|IDDM20|HNF1A type 1 diabetes mellitus	http://purl.obolibrary.org/obo/MONDO_0012919	UMLS:C2675866|DOID:0110757|https://omim.org/entry/612520|http://identifiers.org/mesh/C567286	
MONDO:0000931	biolink:Disease	endometrial disorder	A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma.	SCTID:418632009|DOID:1005|NCIT:C3504	mondo.json	disorder of endometrium|endometrium disease|endometrial disorder|disease or disorder of endometrium|disease of endometrium|endometrium disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000931	DOID:1005|NCIT:C3504|http://identifiers.org/snomedct/418632009	
MONDO:0000930	biolink:Disease	nodular malignant melanoma	An aggressive form of melanoma, frequently metastasizing to the lymph nodes. It presents as a papular or nodular raised skin lesion. It comprises approximately 10-15% of melanomas. Morphologically, it often displays an epithelioid appearance.	SCTID:254731001|DOID:10047|NCIT:C4225|GARD:0009961|UMLS:C0334424|EFO:0008515|ICDO:8721/3	mondo.json	nodular cutaneous (skin) melanoma|nodular malignant skin melanoma|nodular malignant melanoma of skin|nodular malignant melanoma of the skin|nodular melanoma|nodular melanoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0000930	DOID:10047|NCIT:C4225|UMLS:C0334424|http://identifiers.org/snomedct/254731001	
MONDO:0012913	biolink:Disease	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene.	NCIT:C122804|UMLS:C2675904|MESH:C567292|OMIM:612469	mondo.json	WAGR syndrome with obesity|Wagro syndrome|Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome|WAGRO|chromosome 11P13-p12 deletion syndrome|Wilms tumor-aniridia-genitourinary anomalies-mental retardation-obesity syndrome|Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome|Wilms tumor-aniridia-genitourinary anomalies-intellectual disability-obesity syndrome	http://purl.obolibrary.org/obo/MONDO_0012913	UMLS:C2675904|https://omim.org/entry/612469|http://identifiers.org/mesh/C567292|NCIT:C122804	
MONDO:0012914	biolink:Disease	chromosome 1q21.1 deletion syndrome	1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.	Orphanet:250989|GARD:0010813|ICD9:758.33|DECIPHER:62|SCTID:699305004|DOID:0060411|OMIM:612474	mondo.json	Del(1)(q21)|chromosome 1q21.1 deletion syndrome, 1.35-MB|1q21.1 microdeletion syndrome|monosomy 1q21.1|1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders)|chromosome 1q21.1 deletion syndrome, isolated cases|chromosome 1q21.1 microdeletion syndrome|1q21.1 microdeletion	http://purl.obolibrary.org/obo/MONDO_0012914	DOID:0060411|https://omim.org/entry/612474|Orphanet:250989|http://identifiers.org/snomedct/699305004	ordo_malformation_syndrome
MONDO:0012911	biolink:Disease	pseudohypoparathyroidism type 1C	Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha).	GARD:0010681|OMIM:612462|Orphanet:79444|MESH:C548076|UMLS:C2932716|SCTID:717792007	mondo.json	PHP1C|pseudohypoparathyroidism, type 1C|Php 1C|pseudohypoparathyroidism Ic|pseudohypoparathyroidism, type IC	http://purl.obolibrary.org/obo/MONDO_0012911	Orphanet:79444|UMLS:C2932716|https://omim.org/entry/612462|http://identifiers.org/snomedct/717792007|http://identifiers.org/mesh/C548076	ordo_disease|gard_rare
MONDO:0012912	biolink:Disease	pseudopseudohypoparathyroidism	Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP).	SCTID:237659007|UMLS:C0033835|Orphanet:665|Orphanet:79445|GARD:0007860|DOID:4183|OMIM:612463|ICD9:275.49|NCIT:C129722|MESH:D011556	mondo.json	Albright hereditary osteodystrophy-PPHP syndrome|pseudopseudohypoparathyroidism|PPHP|Normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]|Albright hereditary osteodystrophy without multiple hormone resistance|Pseudopseudo-hypoparathyroidism|aho-PPHP syndrome|Albright Hereditary osteodystrophy with Multiple hormone Resistance|pseudo-pseudohypoparathyroidism|Normocalcemic pseudohypoparathyroidism	http://purl.obolibrary.org/obo/MONDO_0012912	Orphanet:79445|http://identifiers.org/mesh/D011556|https://omim.org/entry/612463|UMLS:C0033835|http://identifiers.org/snomedct/237659007|DOID:4183|NCIT:C129722	ordo_disease|gard_rare
MONDO:0012917	biolink:Disease	specific language impairment 4		MESH:C567288|UMLS:C2675874|OMIM:612514	mondo.json	specific language impairment 4|SLI4	http://purl.obolibrary.org/obo/MONDO_0012917	UMLS:C2675874|https://omim.org/entry/612514|http://identifiers.org/mesh/C567288	
MONDO:0012918	biolink:Disease	primary ciliary dyskinesia 10	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF2 gene.	DOID:0110612|MESH:C567287|OMIM:612518|UMLS:C2675867	mondo.json	ciliary dyskinesia, primary, type 10|primary ciliary dyskinesia caused by mutation in DNAAF2|CILD10|ciliary dyskinesia, primary, 10|primary ciliary dyskinesia type 10|DNAAF2 primary ciliary dyskinesia|ciliary dyskinesia, primary, 10, with or without situs inversus|primary ciliary dyskinesia 10 with or without situs inversus	http://purl.obolibrary.org/obo/MONDO_0012918	UMLS:C2675867|DOID:0110612|https://omim.org/entry/612518|http://identifiers.org/mesh/C567287	
MONDO:0012915	biolink:Disease	chromosome 1q21.1 duplication syndrome	Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual.	Orphanet:250994|GARD:0010591|DECIPHER:67|UMLS:C2675891|MESH:C567290|OMIM:612475|DOID:0060435	mondo.json	chromosome 1q21.1 duplication syndrome|trisomy 1q21.1|1q21.1 recurrent microduplication (possible susceptibility locus for neurodevelopmental disorders)|dup(1)(q21.1)|chromosome 1q21.1 duplication syndrome, isolated cases|1q21.1 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0012915	UMLS:C2675891|DOID:0060435|https://omim.org/entry/612475|Orphanet:250994|http://identifiers.org/mesh/C567290	ordo_malformation_syndrome|gard_rare
MONDO:0012916	biolink:Disease	chromosome 2p16.1-p15 deletion syndrome	2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	MESH:C567289|UMLS:C2675875|Orphanet:261349|SCTID:719651000|OMIM:612513|UMLS:C4304538|GARD:0013391|DOID:0060415	mondo.json	2p15-p16.1 microdeletion syndrome|chromosome 2p16.1-p15 deletion syndrome, isolated cases|monosomy 2p15-p16.1|monosomy 2p15p16.1|Del(2)(p15p16.1)|chromosome 2p16.1-p15 deletion syndrome|2p15p16.1 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0012916	UMLS:C4304538|UMLS:C2675875|DOID:0060415|http://identifiers.org/snomedct/719651000|https://omim.org/entry/612513|Orphanet:261349|http://identifiers.org/mesh/C567289	ordo_malformation_syndrome
MONDO:0000929	biolink:Disease	balloon cell malignant melanoma	A rare variant of melanoma with a vertical growth phase. It presents as a nodular or polypoid skin lesion. It is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. The prognosis is similar to that of other melanomas matched for depth of invasion.	SCTID:403922007|ICDO:8722/3|DOID:10044|UMLS:C0334426|NCIT:C4227	mondo.json	balloon cell cutaneous (skin) melanoma|balloon cell skin melanoma|balloon cell malignant skin melanoma|balloon cell malignant melanoma of skin|balloon cell malignant melanoma of the skin|balloon cell melanoma	http://purl.obolibrary.org/obo/MONDO_0000929	http://identifiers.org/snomedct/403922007|DOID:10044|NCIT:C4227|UMLS:C0334426	
MONDO:0012920	biolink:Disease	type 1 diabetes mellitus 21	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q25.	MESH:C567285|OMIM:612521|DOID:0110758|UMLS:C2675865	mondo.json	IDDM21|insulin-dependent diabetes mellitus 21|diabetes mellitus, insulin-dependent, 21	http://purl.obolibrary.org/obo/MONDO_0012920	DOID:0110758|https://omim.org/entry/612521|http://identifiers.org/mesh/C567285|UMLS:C2675865	
MONDO:0012921	biolink:Disease	type 1 diabetes mellitus 22	Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CCR5 gene.	MESH:C567284|OMIM:612522|DOID:0110759|UMLS:C2675864	mondo.json	diabetes mellitus, insulin-dependent, type 22|CCR5 type 1 diabetes mellitus|type 1 diabetes mellitus caused by mutation in CCR5|insulin-dependent diabetes mellitus 22|diabetes mellitus, insulin-dependent, 22|IDDM22	http://purl.obolibrary.org/obo/MONDO_0012921	DOID:0110759|https://omim.org/entry/612522|http://identifiers.org/mesh/C567284|UMLS:C2675864	
MONDO:0000924	biolink:Disease	compensatory emphysema		ICD10CM:J98.3|UMLS:C0155918|SCTID:33325001|DOID:10031|ICD9:518.2	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000924	http://identifiers.org/snomedct/33325001|http://purl.bioontology.org/ontology/ICD10CM/J98.3|UMLS:C0155918|DOID:10031	
MONDO:0000923	biolink:Disease	interstitial emphysema	Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome.	ICD9:518.1|UMLS:C1370824|ICD10CM:J98.2|NCIT:C34571|SCTID:77690003|DOID:10030	mondo.json	pie|pulmonary interstitial emphysema|interstitial emphysema of lung	http://purl.obolibrary.org/obo/MONDO_0000923	http://purl.bioontology.org/ontology/ICD10CM/J98.2|DOID:10030|UMLS:C1370824|http://identifiers.org/snomedct/77690003|NCIT:C34571	
MONDO:0000922	biolink:Disease	pelvic inflammatory disease	Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection.	NCIT:C3889|ICD9:614-616.99|ICD9:614.8|ICD9:614.9|SCTID:198130006|ICD10CM:N70-N77|EFO:1001388|MESH:D000292|DOID:1003|UMLS:C0242172	mondo.json	disease (PID), pelvic inflammatory|inflammatory disease (PID), pelvic|PID|pelvic infection|pelvic inflammatory disease|pelvic inflammatory disease, (PID)|PID, pelvic inflammatory disease	http://purl.obolibrary.org/obo/MONDO_0000922	DOID:1003|http://identifiers.org/snomedct/198130006|http://purl.bioontology.org/ontology/ICD10CM/N70-N77|UMLS:C0242172|NCIT:C3889|http://identifiers.org/mesh/D000292	
MONDO:0000921	biolink:Disease	ampulla of vater neoplasm	A benign or malignant neoplasm involving the ampulla of Vater.	UMLS:C0345916|SCTID:126858004|ONCOTREE:AMPULLAOFVATER|DOID:10022|NCIT:C4443	mondo.json	tumor of hepatopancreatic ampulla|hepatopancreatic ampulla neoplasm|neoplasm of ampulla of Vater|ampulla of Vater tumor|neoplasm of the ampulla of Vater|AMPULLAOFVATER|tumor of the ampulla of Vater|hepatopancreatic ampulla neoplasm (disease)|neoplasm of hepatopancreatic ampulla|hepatopancreatic ampulla tumor|tumor of ampulla of Vater	http://purl.obolibrary.org/obo/MONDO_0000921	DOID:10022|NCIT:C4443|http://identifiers.org/snomedct/126858004|UMLS:C0345916	
MONDO:0000928	biolink:Disease	eyelid melanoma	A melanoma that arises from the upper or lower eyelid.	UMLS:C0339116|NCIT:C4358|ICD9:172.1|SCTID:231834005|DOID:10040	mondo.json	malignant melanoma of eyelid|malignant melanoma of the eyelid|melanoma of eyelid|melanoma of the eyelid|melanoma (disease) of eyelid|eyelid melanoma (disease)|eyelid melanoma|malignant eyelid melanoma	http://purl.obolibrary.org/obo/MONDO_0000928	UMLS:C0339116|http://identifiers.org/snomedct/231834005|DOID:10040|NCIT:C4358	
MONDO:0000927	biolink:Disease	asymptomatic neurosyphilis		ICD9:094.3|DOID:10035|SCTID:37754005|ICD10CM:A52.2|UMLS:C0153167	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000927	http://identifiers.org/snomedct/37754005|DOID:10035|UMLS:C0153167|http://purl.bioontology.org/ontology/ICD10CM/A52.2	
MONDO:0000926	biolink:Disease	eye accommodation disease	Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies.	SCTID:54552008|DOID:10034|ICD9:367.5|UMLS:C0152198	mondo.json	disorder of accommodation	http://purl.obolibrary.org/obo/MONDO_0000926	DOID:10034|UMLS:C0152198|http://identifiers.org/snomedct/54552008	
MONDO:0000925	biolink:Disease	hyperlucent lung	A lung with reduced markings on its chest radiograph and increased areas of transradiancy (hyperlucency). A hyperlucent lung is usually associated with pulmonary emphysema or pneumothorax.	UMLS:C0524799|MESH:D019568|DOID:10032	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000925	UMLS:C0524799|http://identifiers.org/mesh/D019568|DOID:10032	
MONDO:0012908	biolink:Disease	complement component 6 deficiency	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene.	DOID:0060299|UMLS:C2676232|OMIM:612446	mondo.json	complement component 6 deficiency, subtotal|C6 deficiency|C6D|complement component 6 deficiency|classic complement early component deficiency caused by mutation in C6|C6 deficiency, subtotal|C6 classic complement early component deficiency	http://purl.obolibrary.org/obo/MONDO_0012908	UMLS:C2676232|DOID:0060299|https://omim.org/entry/612446	
MONDO:0012909	biolink:Disease	skeletal defects, genital hypoplasia, and intellectual disability		MESH:C567306|OMIM:612447|UMLS:C2676231	mondo.json	skeletal defects, genital hypoplasia, and mental retardation|skeletal defects, genital hypoplasia, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0012909	http://identifiers.org/mesh/C567306|UMLS:C2676231|https://omim.org/entry/612447	
MONDO:0000942	biolink:Disease	corneal disorder	A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma.	DOID:10124|ICD9:371.9|MESH:D003316|SCTID:15250008|UMLS:C0010034|ICD9:371.89|NCIT:C26731|ICD9:371.30	mondo.json	disorder of cornea|disease or disorder of cornea|disease of cornea|cornea disease|corneal disorder|corneal disease|cornea disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000942	DOID:10124|NCIT:C26731|http://identifiers.org/mesh/D003316|http://identifiers.org/snomedct/15250008|UMLS:C0010034	
MONDO:0000941	biolink:Disease	eyelid degenerative disorder	A neurodegenerative disease that involves the eyelid.	ICD9:374.50|DOID:10120|UMLS:C0155209|SCTID:1112003	mondo.json	eyelid neurodegenerative disease|neurodegenerative disease of eyelid	http://purl.obolibrary.org/obo/MONDO_0000941	http://identifiers.org/snomedct/1112003|UMLS:C0155209	
MONDO:0000940	biolink:Disease	trypanosomiasis	Infection with protozoa of the genus trypanosoma.	DOID:10113|ICD9:086.9|ICD10CM:B56|ICD9:086|SCTID:78940002|MESH:D014352|UMLS:C0041227	mondo.json	Trypanosoma infectious disease|Trypanosoma caused disease or disorder|Trypanosoma disease or disorder|Trypanosomiases	http://purl.obolibrary.org/obo/MONDO_0000940	DOID:10113|http://identifiers.org/mesh/D014352|http://purl.bioontology.org/ontology/ICD10CM/B56|UMLS:C0041227|http://identifiers.org/snomedct/78940002	
MONDO:0012902	biolink:Disease	autosomal dominant nonsyndromic hearing loss 27	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1.	OMIM:612431|DOID:0110556	mondo.json	autosomal dominant deafness 27|deafness, autosomal dominant 27|autosomal dominant nonsyndromic deafness 27|autosomal dominant nonsyndromic deafness type 27|DFNA27	http://purl.obolibrary.org/obo/MONDO_0012902	DOID:0110556|https://omim.org/entry/612431	
MONDO:0012903	biolink:Disease	autosomal recessive nonsyndromic hearing loss 45	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44.	DOID:0110502|OMIM:612433	mondo.json	autosomal recessive nonsyndromic deafness type 45|autosomal recessive deafness 45|autosomal recessive nonsyndromic deafness 45|deafness, autosomal recessive 45|DFNB45	http://purl.obolibrary.org/obo/MONDO_0012903	DOID:0110502|https://omim.org/entry/612433	
MONDO:0012900	biolink:Disease	cardiomyopathy, familial restrictive, 3	Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.	OMIM:612422|DOID:0111427|UMLS:C2676271|MESH:C567316	mondo.json	RCM3|familial isolated restrictive cardiomyopathy caused by mutation in TNNT2|TNNT2 familial isolated restrictive cardiomyopathy|cardiomyopathy, familial restrictive, type 3|cardiomyopathy, familial restrictive, 3	http://purl.obolibrary.org/obo/MONDO_0012900	DOID:0111427|https://omim.org/entry/612422|http://identifiers.org/mesh/C567316|UMLS:C2676271	
MONDO:0012901	biolink:Disease	inherited prekallikrein deficiency	An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome.	GARD:0004477|Orphanet:749|MESH:C562725|ICD9:286.9|OMIM:612423	mondo.json	hereditary prekallikrein deficiency|prekallikrein deficiency|congenital prekallikrein deficiency|prekallikrein deficiency, congenital|Fletcher Factor deficiency|fletcher factor (prekallikrein) deficiency|PKK deficiency	http://purl.obolibrary.org/obo/MONDO_0012901	Orphanet:749|http://identifiers.org/mesh/C562725|https://omim.org/entry/612423	ordo_disease|gard_rare
MONDO:0012906	biolink:Disease	primary ciliary dyskinesia 9	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene.	OMIM:612444|UMLS:C2676235|DOID:0110622|MESH:C567310	mondo.json	ciliary dyskinesia, primary, type 9|CILD9|ciliary dyskinesia, primary, 9|DNAI2 primary ciliary dyskinesia|primary ciliary dyskinesia 9|primary ciliary dyskinesia caused by mutation in DNAI2|primary ciliary dyskinesia 9 with or without situs inversus|ciliary dyskinesia, primary, 9, with or without situs inversus|primary ciliary dyskinesia type 9	http://purl.obolibrary.org/obo/MONDO_0012906	DOID:0110622|https://omim.org/entry/612444|http://identifiers.org/mesh/C567310|UMLS:C2676235	
MONDO:0012907	biolink:Disease	blindness - scoliosis - arachnodactyly syndrome	This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.	OMIM:612445|SCTID:717920004|MESH:C567309|UMLS:C2676234|Orphanet:171844	mondo.json	scoliosis, arachnodactyly, and blindness	http://purl.obolibrary.org/obo/MONDO_0012907	https://omim.org/entry/612445|http://identifiers.org/snomedct/717920004|Orphanet:171844|http://identifiers.org/mesh/C567309|UMLS:C2676234	ordo_malformation_syndrome
MONDO:0012904	biolink:Disease	epilepsy, progressive myoclonic, 1B	Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene.	SCTID:702326000|DOID:0111448|ICD9:345.10|MESH:C580388|UMLS:C2676254|OMIM:612437	mondo.json	EPM1B|epilepsy, progressive myoclonic, type 1B|epilepsy, progressive myoclonic, 1B|epilepsy, progressive myoclonic 1B|PRICKLE1 progressive myoclonic epilepsy|progressive myoclonic epilepsy caused by mutation in PRICKLE1	http://purl.obolibrary.org/obo/MONDO_0012904	DOID:0111448|http://identifiers.org/mesh/C580388|https://omim.org/entry/612437|UMLS:C2676254|http://identifiers.org/snomedct/702326000	
MONDO:0012905	biolink:Disease	hypomyelinating leukodystrophy 6	Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.	MESH:C567314|GARD:0010917|Orphanet:139441|OMIM:612438|UMLS:C2676244|DOID:0060798	mondo.json	HABC|hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum|leukodystrophy, hypomyelinating, 6|hypomyelination with atrophy of basal ganglia and cerebellum|leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum|HLD6|leukodystrophy, hypomyelinating, type 6|H-ABC|hypomyelinating leukodystrophy type 6	http://purl.obolibrary.org/obo/MONDO_0012905	Orphanet:139441|DOID:0060798|https://omim.org/entry/612438|http://identifiers.org/mesh/C567314|UMLS:C2676244	ordo_disease
MONDO:0012910	biolink:Disease	age-related hearing impairment 1		OMIM:612448|UMLS:C2676230|MESH:C567305	mondo.json	presbycusis 1|age-related hearing impairment 1|ARHI1	http://purl.obolibrary.org/obo/MONDO_0012910	https://omim.org/entry/612448|http://identifiers.org/mesh/C567305|UMLS:C2676230	
MONDO:0000935	biolink:Disease	larynx squamous papilloma	A benign exophytic neoplasm that arises from the larynx, usually the true vocal cords. It is related to human papillomavirus infection and may arise as a single or multiple lesions. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium. Hoarseness is the presenting symptom. Transformation to carcinoma is rare.	UMLS:C0240164|NCIT:C7742|DOID:10071	mondo.json	squamous papilloma of larynx|squamous papilloma of the larynx|larynx papilloma|papilloma of larynx|papilloma of the larynx|larynx squamous papilloma|laryngeal papilloma	http://purl.obolibrary.org/obo/MONDO_0000935	NCIT:C7742|DOID:10071|UMLS:C0240164	
MONDO:0000934	biolink:Disease	laryngeal leiomyoma	A benign smooth muscle neoplasm arising from the larynx. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	NCIT:C6027|UMLS:C1334370|DOID:10070	mondo.json	laryngeal leiomyoma|leiomyoma of larynx|leiomyoma of the larynx|larynx leiomyoma	http://purl.obolibrary.org/obo/MONDO_0000934	NCIT:C6027|DOID:10070|UMLS:C1334370	
MONDO:0000933	biolink:Disease	subglottis neoplasm	A benign or malignant neoplasm that affects the subglottic area of the larynx.	DOID:10069|NCIT:C4426|SCTID:126696001|UMLS:C0345746	mondo.json	subglottis neoplasm (disease)|tumor of subglottis|subglottic neoplasm|subglottis neoplasm|neoplasm of the subglottis|neoplasm of subglottis|subglottic tumor|subglottis tumor|tumor of the subglottis	http://purl.obolibrary.org/obo/MONDO_0000933	DOID:10069|http://identifiers.org/snomedct/126696001|NCIT:C4426|UMLS:C0345746	
MONDO:0000932	biolink:Disease	obsolete skin amelanotic melanoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000932		
MONDO:0000939	biolink:Disease	intracranial abscess	An abscess that is located in the intracranial space.	SCTID:27614006|ICD9:324.0|UMLS:C0021874|DOID:10095|NCIT:C34734	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000939	NCIT:C34734|http://identifiers.org/snomedct/27614006|DOID:10095|UMLS:C0021874	
MONDO:0000938	biolink:Disease	gastric leiomyoma	A rare benign smooth muscle neoplasm arising from the wall of the stomach. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. Unlike gastrointestinal stromal tumors, gastric leiomyomas are by definition negative for CD34 and CD117 (C-KIT).	UMLS:C0238440|NCIT:C3876|DOID:10087|SCTID:276812001	mondo.json	gastric leiomyoma|leiomyoma of stomach|stomach leiomyoma|leiomyoma of the stomach	http://purl.obolibrary.org/obo/MONDO_0000938	http://identifiers.org/snomedct/276812001|DOID:10087|NCIT:C3876|UMLS:C0238440	
MONDO:0000937	biolink:Disease	syphilitic encephalitis	An encephalitis caused by infection with Treponema.	UMLS:C0153168|SCTID:26135000|ICD9:094.81|DOID:10081	mondo.json	Treponema caused encephalitis|Treponema encephalitis	http://purl.obolibrary.org/obo/MONDO_0000937	DOID:10081|UMLS:C0153168|http://identifiers.org/snomedct/26135000	
MONDO:0000936	biolink:Disease	syphilitic meningitis	An infectious meningitis caused by infection with Treponema.	UMLS:C0153166|MESH:C536775|GARD:0008731|ICD9:094.2|DOID:10073|SCTID:301086002	mondo.json	meningitis, syphilitic|Treponema infectious meningitis|syphilitic aseptic meningitis|meningeal syphilis|Treponema caused infectious meningitis	http://purl.obolibrary.org/obo/MONDO_0000936	http://identifiers.org/snomedct/301086002|http://identifiers.org/mesh/C536775|UMLS:C0153166|DOID:10073	
MONDO:0000993	biolink:Disease	prostate squamous cell carcinoma	An invasive prostate carcinoma characterized by the presence of squamous differentiation of the malignant cellular infiltrate. There is no evidence of glandular differentiation.	ONCOTREE:PRSC|UMLS:C1302530|SCTID:399590005|DOID:10287|NCIT:C5536	mondo.json	squamous cell carcinoma of prostate|prostate gland squamous cell carcinoma|prostate squamous cell carcinoma|squamous cell carcinoma of the prostate|PRSC	http://purl.obolibrary.org/obo/MONDO_0000993	UMLS:C1302530|http://identifiers.org/snomedct/399590005|NCIT:C5536|DOID:10287	
MONDO:0000992	biolink:Disease	heart conduction disease	A disease that has its basis in the disruption of the heart's electrical conduction system.	ICD9:426.6|SCTID:44808001|DOID:10273	mondo.json	disease of cardiac conduction|conduction disease of heart|cardiac conduction disorder|cardiac conduction disease|heart rhythm disease|disorder of cardiac conduction	http://purl.obolibrary.org/obo/MONDO_0000992	DOID:10273|http://identifiers.org/snomedct/44808001	
MONDO:0000991	biolink:Disease	obsolete left bundle branch block	OBSOLETE. A bundle branch block in which the activation of the left ventricle is delayed.	ICD9:426.2|SCTID:63467002|SCTID:4973001|DOID:10272|UMLS:C0155702	mondo.json	left bundle branch hemiblock|left bundle branch [block] or [hemiblock]	http://purl.obolibrary.org/obo/MONDO_0000991	http://identifiers.org/snomedct/63467002|UMLS:C0155702|DOID:10272|http://identifiers.org/snomedct/4973001	
MONDO:0000990	biolink:Disease	acute subendocardial myocardial infarction	Acute form of subendocardial myocardial infarction.	SCTID:70422006|DOID:10266|UMLS:C0264710|ICD9:410.72|ICD9:410.71|ICD9:410.7|ICD9:410.70	mondo.json	subendocardial infarction acute myocardial infarction|acute subendocardial infarction|subendocardial myocardial infarction, acute|acute nontransmural infarction	http://purl.obolibrary.org/obo/MONDO_0000990	UMLS:C0264710|DOID:10266|http://identifiers.org/snomedct/70422006	
MONDO:0000997	biolink:Disease	monocular esotropia	A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze.	DOID:10293|UMLS:C0152204|SCTID:5455000|ICD9:378.01	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000997	http://identifiers.org/snomedct/5455000|DOID:10293|UMLS:C0152204	
MONDO:0000996	biolink:Disease	prostate lymphoma	A rare non-Hodgkin or Hodgkin lymphoma that arises from the prostate gland.	DOID:10290|UMLS:C1335512|NCIT:C5533	mondo.json	primary prostate lymphoma|prostate lymphoma|lymphoma of prostate|lymphoma of the prostate|lymphoma of prostate gland|prostate gland lymphoma	http://purl.obolibrary.org/obo/MONDO_0000996	DOID:10290|NCIT:C5533|UMLS:C1335512	
MONDO:0009329	biolink:Disease	pulmonary venoocclusive disease 2	A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal.	MESH:C535861|UMLS:C0340548|SCTID:233949008|OMIM:234810|Orphanet:199241|ICD9:416.8|GARD:0008527	mondo.json	familial pulmonary capillary hemangiomatosis|pulmonary venoocclusive disease 2, autosomal recessive|pulmonary capillary hemangiomatosis|hemangiomatosis, familial pulmonary capillary|PVOD2	http://purl.obolibrary.org/obo/MONDO_0009329	Orphanet:199241|http://identifiers.org/mesh/C535861|http://identifiers.org/snomedct/233949008|UMLS:C0340548|https://omim.org/entry/234810	ordo_disease
MONDO:0000995	biolink:Disease	familial periodic paralysis	A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally.	NCIT:C84709|MESH:D010245|GARD:0006422|SCTID:267607008|DOID:1029|Orphanet:371433	mondo.json	familial periodic paralyses|paralyses, normokalemic periodic|periodic paralysis, familial|genetic periodic paralysis|normokalemic periodic paralyses|periodic paralyses, normokalemic|paralysis, familial periodic|normokalemic periodic paralysis|hereditary periodic paralysis (disease)|familial periodic paralysis|periodic paralysis, normokalemic|periodic paralyses, familial|paralysis, normokalemic periodic	http://purl.obolibrary.org/obo/MONDO_0000995	http://identifiers.org/mesh/D010245|DOID:1029|Orphanet:371433|http://identifiers.org/snomedct/267607008|NCIT:C84709	disease_grouping|ordo_group_of_disorders|gard_rare
MONDO:0024965	biolink:Disease	muscular dystrophy, non-human animal		UMLS:C0026851|MESH:D009137	mondo.json	dystrophies, animal muscular|animal muscular dystrophy|dystrophy, animal muscular|animal muscular dystrophies|muscular dystrophies, animal	http://purl.obolibrary.org/obo/MONDO_0024965	http://identifiers.org/mesh/D009137|UMLS:C0026851	
MONDO:0009328	biolink:Disease	hemangiomatosis, cutaneous, with associated features		MESH:C562438|OMIM:234800|UMLS:C0220738	mondo.json	hemangiomatosis, cutaneous, with associated features	http://purl.obolibrary.org/obo/MONDO_0009328	UMLS:C0220738|http://identifiers.org/mesh/C562438|https://omim.org/entry/234800	
MONDO:0000994	biolink:Disease	malignant prostate phyllodes tumor	An unusual malignant tumor that arises from the prostate gland. It is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia.	NCIT:C5531|DOID:10289|UMLS:C1334615	mondo.json	malignant phyllodes neoplasm of prostate|malignant phyllodes tumor of prostate|malignant prostate phyllodes neoplasm|malignant phyllodes tumor of the prostate|malignant phyllodes neoplasm of the prostate|prostate malignant phyllodes tumor|malignant prostate phyllodes tumor	http://purl.obolibrary.org/obo/MONDO_0000994	DOID:10289|NCIT:C5531|UMLS:C1334615	
MONDO:0012979	biolink:Disease	primary ciliary dyskinesia 12	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene.	UMLS:C2675228|OMIM:612650|DOID:0110601|MESH:C567211	mondo.json	ciliary dyskinesia, primary, 12|CILD12|ciliary dyskinesia, primary, 12, without situs inversus|primary ciliary dyskinesia 12 without situs inversus|RSPH9 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 12|primary ciliary dyskinesia type 12|primary ciliary dyskinesia caused by mutation in RSPH9	http://purl.obolibrary.org/obo/MONDO_0012979	https://omim.org/entry/612650|http://identifiers.org/mesh/C567211|UMLS:C2675228|DOID:0110601	
MONDO:0009327	biolink:Disease	heart, malformation of		OMIM:140500|OMIM:234750	mondo.json	heart, malformation of	http://purl.obolibrary.org/obo/MONDO_0009327	https://omim.org/entry/234750|https://omim.org/entry/140500	
MONDO:0010316	biolink:Disease	FG syndrome 3		UMLS:C1845567|GARD:0009924|OMIM:300406	mondo.json	FG syndrome 3|FGS3	http://purl.obolibrary.org/obo/MONDO_0010316	UMLS:C1845567|https://omim.org/entry/300406	gard_rare
MONDO:0010315	biolink:Disease	T-B+ severe combined immunodeficiency due to gamma chain deficiency	Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.	NCIT:C4682|OMIM:300400|GARD:0005618|SCTID:203592006|DOID:0060013|Orphanet:276|EFO:0005555	mondo.json	severe combined immunodeficiency, X-linked|X-SCID|severe combined immunodeficiency T- B+ due to gamma chain deficiency|T-B+ severe combined immunodeficiency due to gamma chain deficiency|X-linked severe combined immunodeficiency|SCID, X-linked|XSCID|X-linked SCID|immunodeficiency 4|severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative|severe combined immunodeficiency, X-linked, X-linked recessive|thymic epithelial hypoplasia|SCIDX|severe combined immunodeficiency T- B+, X-linked|T-B+ severe combined immunodeficiency, X-linked|SCID-X1|SCIDX1|T-B+ SCID due to gamma chain deficiency	http://purl.obolibrary.org/obo/MONDO_0010315	Orphanet:276|DOID:0060013|https://omim.org/entry/300400|http://identifiers.org/snomedct/203592006|NCIT:C4682	ordo_disease
MONDO:0009326	biolink:Disease	congenital heart block	Heart block that occurs on or before 28 days of life.	UMLS:C0149530|ICD9:746.86|DOID:990|SCTID:46619002|GARD:0006164|MedDRA:10019263|OMIM:234700|ICD10CM:Q24.6|Orphanet:60041|MESH:C535758	mondo.json	congenital atrioventricular block|heart block, congenital	http://purl.obolibrary.org/obo/MONDO_0009326	https://omim.org/entry/234700|UMLS:C0149530|Orphanet:60041|http://identifiers.org/snomedct/46619002|DOID:990|http://purl.bioontology.org/ontology/ICD10CM/Q24.6|http://identifiers.org/mesh/C535758	gard_rare|ordo_disease
MONDO:0009325	biolink:Disease	obsolete deafness-enamel hypoplasia-nail defects syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009325		
MONDO:0012977	biolink:Disease	autosomal recessive nonsyndromic hearing loss 1B	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.	OMIM:612645|MESH:C567213|GTR:AN1075764|UMLS:C2675235|DOID:0110476|UMLS:CN674504	mondo.json	GJB6 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness 1B|DFNB1B|autosomal recessive deafness 1B|deafness, autosomal recessive 1B|deafness, autosomal recessive type 1B|autosomal recessive nonsyndromic deafness caused by mutation in GJB6|deafness, autosomal recessive 1b|Autosomal recessive deafness type 1B|autosomal recessive nonsyndromic deafness type 1B	http://purl.obolibrary.org/obo/MONDO_0012977	http://identifiers.org/mesh/C567213|UMLS:C2675235|UMLS:CN674504|DOID:0110476|https://omim.org/entry/612645	
MONDO:0010318	biolink:Disease	FG syndrome 4	Any FG syndrome in which the cause of the disease is a mutation in the CASK gene.	GARD:0009925|UMLS:CN033933|OMIM:300422	mondo.json	CASK FG syndrome|cask FG syndrome|intellectual disability, X-linked, with or without Nystagmus|X-linked intellectual disability with or without nystagmus|FG syndrome 4|mental retardation, with or without nystagmus|FG syndrome caused by mutation in CASK|FG syndrome caused by mutation in cask|mental retardation, X-linked, with or without Nystagmus|FG syndrome type 4|FGS4	http://purl.obolibrary.org/obo/MONDO_0010318	UMLS:CN033933|https://omim.org/entry/300422	gard_rare
MONDO:0009324	biolink:Disease	Hartnup disease	Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).	DOID:1060|SCTID:80902009|Orphanet:2116|MedDRA:10019165|MESH:D006250|UMLS:C0018609|OMIM:234500|GARD:0006569|NCIT:C84748	mondo.json	HND|neutral amino acid transport defect|Hartnup disease|neutral 1 amino acid transport defect|deficiency of tryptophan oxygenase|Hartnup disorder|aminoaciduria, Hartnup type	http://purl.obolibrary.org/obo/MONDO_0009324	UMLS:C0018609|https://omim.org/entry/234500|http://identifiers.org/snomedct/80902009|NCIT:C84748|Orphanet:2116|http://identifiers.org/mesh/D006250|DOID:1060	ordo_disease|gard_rare
MONDO:0010317	biolink:Disease	intellectual disability, X-linked, with or without seizures, arx-related		MESH:C564502|GARD:0005614|UMLS:C0796244|UMLS:C1845298|OMIM:300419|MESH:C563150	mondo.json	intellectual disability, X-linked 29|mental retardation, X-linked 29|MRX52|intellectual disability, X-linked 38|intellectual disability, X-linked, with or without seizures, arx-RELATED|mental retardation, X-linked 52|mental retardation, X-linked 38|mental retardation, X-linked, with or without seizures, arx-RELATED|intellectual disability, X-linked 33|intellectual disability, X-linked, with or without seizures, ARX-related|intellectual disability, X-linked 32|intellectual disability, X-linked 43|intellectual disability, X-linked 54|intellectual disability, X-linked 87|intellectual disability, X-linked 76|mental retardation, X-linked 33|mental retardation, X-linked, with or without seizures, arx-related|mental retardation, X-linked 54|mental retardation, X-linked 32|mental retardation, X-linked 43|mental retardation, X-linked 87|mental retardation, X-linked 76|MRXARX|intellectual disability, X-linked 52|intellectual developmental disorder, X-linked 29, X-linked recessive|ARX-related intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010317	UMLS:C0796244|http://identifiers.org/mesh/C563150|https://omim.org/entry/300419	
MONDO:0012978	biolink:Disease	primary ciliary dyskinesia 11	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene.	DOID:0110602|MESH:C567212|UMLS:C2675229|OMIM:612649	mondo.json	ciliary dyskinesia, primary, 11, without situs inversus|ciliary dyskinesia, primary, type 11|primary ciliary dyskinesia 11|primary ciliary dyskinesia 11 without situs inversus|primary ciliary dyskinesia caused by mutation in RSPH4A|primary ciliary dyskinesia type 11|ciliary dyskinesia, primary, 11|CILD11|RSPH4A primary ciliary dyskinesia	http://purl.obolibrary.org/obo/MONDO_0012978	http://identifiers.org/mesh/C567212|UMLS:C2675229|DOID:0110602|https://omim.org/entry/612649	
MONDO:0009323	biolink:Disease	Halothane hepatitis		UMLS:C0241913|MESH:C562477|SCTID:235873001|OMIM:234350	mondo.json	Halothane hepatitis	http://purl.obolibrary.org/obo/MONDO_0009323	https://omim.org/entry/234350|http://identifiers.org/mesh/C562477|http://identifiers.org/snomedct/235873001|UMLS:C0241913	
GO:1905330	biolink:NamedThing	regulation of morphogenesis of an epithelium	Any process that modulates the frequency, rate or extent of morphogenesis of an epithelium.		mondo.json	regulation of epithelium morphogenesis	http://purl.obolibrary.org/obo/GO_1905330		
GO:1905331	biolink:NamedThing	negative regulation of morphogenesis of an epithelium	Any process that stops, prevents or reduces the frequency, rate or extent of morphogenesis of an epithelium.		mondo.json	down-regulation of morphogenesis of an epithelium|downregulation of epithelium morphogenesis|down regulation of epithelium morphogenesis|inhibition of epithelium morphogenesis|down-regulation of epithelium morphogenesis|negative regulation of epithelium morphogenesis|downregulation of morphogenesis of an epithelium|down regulation of morphogenesis of an epithelium|inhibition of morphogenesis of an epithelium	http://purl.obolibrary.org/obo/GO_1905331		
MONDO:0010319	biolink:Disease	syndromic X-linked intellectual disability Hedera type	X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.	MESH:C564516|OMIM:300423|UMLS:C1845543|Orphanet:93952|DOID:0060806	mondo.json	mental retardation, X-linked, syndromic, Hedera type|X-linked intellectual disability with epilepsy|X-linked mental retardation with epilepsy|MRXSH|intellectual developmental disorder, X-linked, syndromic, Hedera type, X-linked recessive|X-linked intellectual disability, Hedera type|intellectual disability, X-linked, syndromic, Hedera type|MRXE|intellectual disability, X-linked, with epilepsy|mental retardation, X-linked, with epilepsy	http://purl.obolibrary.org/obo/MONDO_0010319	Orphanet:93952|UMLS:C1845543|http://identifiers.org/mesh/C564516|https://omim.org/entry/300423|DOID:0060806	ordo_disease
MONDO:0009322	biolink:Disease	obsolete halo nevi		OMIM:234300	mondo.json		http://purl.obolibrary.org/obo/MONDO_0009322	https://omim.org/entry/234300	
MONDO:0009321	biolink:Disease	hallux varus-preaxial polysyndactyly syndrome	Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.	OMIM:234280|UMLS:C1856197|GARD:0003118|MESH:C536885|Orphanet:2110	mondo.json	hallux varus and preaxial polysyndactyly|Kleiner Holmes syndrome|Kleiner-Holmes syndrome	http://purl.obolibrary.org/obo/MONDO_0009321	Orphanet:2110|UMLS:C1856197|http://identifiers.org/mesh/C536885|https://omim.org/entry/234280	ordo_malformation_syndrome
GO:1905332	biolink:NamedThing	positive regulation of morphogenesis of an epithelium	Any process that activates or increases the frequency, rate or extent of morphogenesis of an epithelium.		mondo.json	upregulation of morphogenesis of an epithelium|up-regulation of epithelium morphogenesis|activation of epithelium morphogenesis|up regulation of morphogenesis of an epithelium|upregulation of epithelium morphogenesis|up-regulation of morphogenesis of an epithelium|activation of morphogenesis of an epithelium|positive regulation of epithelium morphogenesis|up regulation of epithelium morphogenesis	http://purl.obolibrary.org/obo/GO_1905332		
MONDO:0009320	biolink:Disease	Hall-Riggs syndrome	Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.	UMLS:C1856198|Orphanet:2107|MESH:C535623|SCTID:721008000|GARD:0002586|OMIM:234250	mondo.json	HALL-Riggs intellectual disability syndrome|HALL-Riggs mental retardation syndrome|Hall Riggs mental retardation syndrome|Hall Riggs intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0009320	Orphanet:2107|UMLS:C1856198|http://identifiers.org/mesh/C535623|http://identifiers.org/snomedct/721008000|https://omim.org/entry/234250	ordo_malformation_syndrome
MONDO:0012982	biolink:Disease	episodic ataxia type 6	Episodic ataxia type 6 (EA6) is an exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.	DOID:0050994|SCTID:718753002|UMLS:C2675211|OMIM:612656|Orphanet:209967|MESH:C567207	mondo.json	SLC1A3 hereditary episodic ataxia|hereditary episodic ataxia caused by mutation in SLC1A3|EA6|episodic ataxia, type 6|episodic ataxia type 6	http://purl.obolibrary.org/obo/MONDO_0012982	Orphanet:209967|DOID:0050994|http://identifiers.org/snomedct/718753002|https://omim.org/entry/612656|http://identifiers.org/mesh/C567207|UMLS:C2675211	ordo_disease
MONDO:0012983	biolink:Disease	cone-rod dystrophy 12	Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene.	DOID:0111019|OMIM:612657|UMLS:C2675210|MESH:C567206	mondo.json	cone-rod dystrophy type 12|cone-rod dystrophy 12|CORD12|PROM1 cone-rod dystrophy|cone-rod dystrophy caused by mutation in PROM1	http://purl.obolibrary.org/obo/MONDO_0012983	UMLS:C2675210|DOID:0111019|https://omim.org/entry/612657|http://identifiers.org/mesh/C567206	
MONDO:0012980	biolink:Disease	endocrine-cerebro-osteodysplasia syndrome	Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.	OMIM:612651|DOID:0060641|Orphanet:199332|MESH:C567210|UMLS:C4509819|UMLS:C2675227|SCTID:723309006	mondo.json	ECO syndrome|endocrine-CEREBROOSTEODYSPLASIA|ECO	http://purl.obolibrary.org/obo/MONDO_0012980	Orphanet:199332|UMLS:C4509819|DOID:0060641|http://identifiers.org/snomedct/723309006|https://omim.org/entry/612651|http://identifiers.org/mesh/C567210|UMLS:C2675227	ordo_malformation_syndrome
MONDO:0010321	biolink:Disease	autism, susceptibility to, X-linked 1		OMIM:300425	mondo.json	autism susceptibility, X-linked 1|autism, susceptibility to, X-linked 1|AUTSX1|autism, susceptibility to, X-linked type 1|susceptibility to X-linked autism 1	http://purl.obolibrary.org/obo/MONDO_0010321	https://omim.org/entry/300425	predisposition
MONDO:0012981	biolink:Disease	hereditary spherocytosis type 4	Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene.	OMIM:612653|UMLS:C2675212|DOID:0110919|MESH:C567208	mondo.json	SLC4A1 hereditary spherocytosis|HS4|spherocytosis, type 4|hereditary spherocytosis 4|SPH4|spherocytosis, hereditary, 4|hereditary spherocytosis caused by mutation in SLC4A1	http://purl.obolibrary.org/obo/MONDO_0012981	DOID:0110919|https://omim.org/entry/612653|http://identifiers.org/mesh/C567208|UMLS:C2675212	
MONDO:0010320	biolink:Disease	retinitis pigmentosa 23	Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene.	UMLS:C1419610|DOID:0110412|ICD10CM:H35.5|GARD:0010391|OMIM:300424	mondo.json	RP 23|OFD1 retinitis pigmentosa|retinitis pigmentosa 23|RP23|retinitis pigmentosa caused by mutation in OFD1|retinitis pigmentosa type 23|retinitis pigmentosa 23, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0010320	UMLS:C1419610|DOID:0110412|https://omim.org/entry/300424	gard_rare
MONDO:0010323	biolink:Disease	Atkin-Flaitz syndrome	Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked.	GARD:0003537|OMIM:300431|Orphanet:1193|SCTID:718577005	mondo.json	X-linked intellectual disability, Atkin type|Atkin syndrome|Atkin-Flaitz syndrome	http://purl.obolibrary.org/obo/MONDO_0010323	Orphanet:1193|https://omim.org/entry/300431|http://identifiers.org/snomedct/718577005	ordo_malformation_syndrome
MONDO:0012986	biolink:Disease	bilateral parasagittal parieto-occipital polymicrogyria		GARD:0010785|MESH:C567201|OMIM:612691|UMLS:C2675191|Orphanet:208441	mondo.json	polymicrogyria, bilateral temporooccipital|BTOP	http://purl.obolibrary.org/obo/MONDO_0012986	UMLS:C2675191|Orphanet:208441|https://omim.org/entry/612691|http://identifiers.org/mesh/C567201	ordo_clinical_subtype|gard_rare
MONDO:0010322	biolink:Disease	intellectual disability, X-linked 2		MESH:C563135|OMIM:300428|UMLS:C0796207	mondo.json	intellectual disability, X-linked 2|mental retardation, X-linked 2|MRX2	http://purl.obolibrary.org/obo/MONDO_0010322	http://identifiers.org/mesh/C563135|https://omim.org/entry/300428|UMLS:C0796207	
MONDO:0012987	biolink:Disease	agammaglobulinemia 6, autosomal recessive	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene.	UMLS:C3150207|OMIM:612692	mondo.json	agammaglobulinemia, autosomal recessive, due to Cd79B defect|AGM6|CD79B autosomal agammaglobulinemia|agammaglobulinemia 6, autosomal recessive|autosomal agammaglobulinemia caused by mutation in CD79B	http://purl.obolibrary.org/obo/MONDO_0012987	UMLS:C3150207|https://omim.org/entry/612692	
MONDO:0010325	biolink:Disease	X-linked intellectual disability, Stocco dos Santos type		OMIM:300434|Orphanet:85288|UMLS:C1845530|GARD:0001133|SCTID:718910006|MESH:C537495	mondo.json	intellectual disability, X-linked, Stocco Dos Santos type|mental retardation, X-linked, Stocco Dos Santos type|Stocco dos Santos syndrome|intellectual developmental disorder, X-linked syndromic, Stocco dos Santos type|SDSX|Stocco DOS Santos X-linked intellectual disability syndrome|Sdsx|Stocco DOS Santos X-linked mental retardation syndrome|intellectual disability, Stocco dos Santos type|mental retardation, Stocco dos Santos type	http://purl.obolibrary.org/obo/MONDO_0010325	UMLS:C1845530|Orphanet:85288|http://identifiers.org/mesh/C537495|http://identifiers.org/snomedct/718910006|https://omim.org/entry/300434	ordo_malformation_syndrome
MONDO:0012984	biolink:Disease	PHARC syndrome	Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.	MESH:C567203|SCTID:723452007|OMIM:612674|DOID:0080181|Orphanet:171848|UMLS:C2675204	mondo.json	PHARC|polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract|polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome|peripheral neuropathy, Fiskerstrand type|PHARC syndrome|polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	http://purl.obolibrary.org/obo/MONDO_0012984	UMLS:C2675204|http://identifiers.org/snomedct/723452007|https://omim.org/entry/612674|Orphanet:171848|http://identifiers.org/mesh/C567203|DOID:0080181	ordo_disease
MONDO:0010324	biolink:Disease	intellectual disability, X-linked 81		OMIM:300433|UMLS:C1845531|MESH:C564515	mondo.json	mental retardation, X-linked 81, X-linked recessive|intellectual disability, X-linked 81|MRX81|mental retardation, X-linked 81	http://purl.obolibrary.org/obo/MONDO_0010324	UMLS:C1845531|http://identifiers.org/mesh/C564515|https://omim.org/entry/300433	
MONDO:0012985	biolink:Disease	hereditary spherocytosis type 5	Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene.	MESH:C567202|DOID:0110920|OMIM:612690|UMLS:C2675192	mondo.json	hereditary spherocytosis 5|hereditary spherocytosis type 5|spherocytosis, type 5|spherocytosis, hereditary, 5|hereditary spherocytosis caused by mutation in EPB42|SPH5|HS5|EPB42 hereditary spherocytosis	http://purl.obolibrary.org/obo/MONDO_0012985	UMLS:C2675192|DOID:0110920|https://omim.org/entry/612690|http://identifiers.org/mesh/C567202	
MONDO:0000989	biolink:Disease	mumps infectious disease	A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease.	ICD10CM:B26|ICD9:072|EFO:0007383|MESH:D019351|SCTID:36989005|NCIT:C29888|UMLS:C0026780|MESH:D009107|GARD:0007116|DOID:10264	mondo.json	mumps|Mumps virus infectious disease|Mumps virus caused disease or disorder|Mumps virus disease or disorder|epidemic parotitis|mumps virus infectious disease	http://purl.obolibrary.org/obo/MONDO_0000989	http://identifiers.org/mesh/D009107|http://purl.bioontology.org/ontology/ICD10CM/B26|UMLS:C0026780|http://identifiers.org/snomedct/36989005|http://identifiers.org/mesh/D019351|NCIT:C29888|DOID:10264	gard_rare
MONDO:0000988	biolink:Disease	discharging ear	Discharge or drainage of fluid from the ear.	DOID:10261|ICD9:388.60|ICD9:388.6	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000988	DOID:10261	
MONDO:0000987	biolink:Disease	cholesterolosis of gallbladder	A disorder characterized by a change in the gallbladder wall due to excess cholesterol.	ICD10CM:K82.4|ICD9:575.6|SCTID:61565001|DOID:10254|UMLS:C0152456	mondo.json	strawberry gallbladder	http://purl.obolibrary.org/obo/MONDO_0000987	UMLS:C0152456|http://identifiers.org/snomedct/61565001|DOID:10254|http://purl.bioontology.org/ontology/ICD10CM/K82.4	
MONDO:0024950	biolink:Disease	horse disease	Diseases of domestic and wild horses of the species Equus caballus.	MESH:D006734|UMLS:C0019940	mondo.json	horse disease|disease, horse|disease, equine|equine disease|diseases, equine|diseases, horse|equine diseases	http://purl.obolibrary.org/obo/MONDO_0024950	http://identifiers.org/mesh/D006734|UMLS:C0019940	
MONDO:0024953	biolink:Disease	lameness, non-human animal	A departure from the normal gait in animals.	MESH:D007794	mondo.json	animal lameness|Gait disorders, animal|animal Gait disorder|animal Lamenesses|disorder, animal Gait|disorders, animal Gait|Lamenesses, animal|animal Gait disorders|Gait disorder, animal	http://purl.obolibrary.org/obo/MONDO_0024953	http://identifiers.org/mesh/D007794	
MONDO:0009339	biolink:Disease	congenital bile acid synthesis defect 2	Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.	Orphanet:79303|MESH:C535443|DOID:0111069|UMLS:C1856127|OMIM:235555|GARD:0010045	mondo.json	cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency|bile acid synthesis defect, congenital, 2|CBAS2|congenital bile acid synthesis defect, type 2|bile acid synthesis defect, congenital, type 2|congenital bile acid synthesis defect caused by mutation in AKR1D1|cholestasis with Delta(4)-3-oxosteroid 5-Beta-reductase deficiency|congenital bile acid synthesis defect type 2|AKR1D1 congenital bile acid synthesis defect|BASD2	http://purl.obolibrary.org/obo/MONDO_0009339	UMLS:C1856127|DOID:0111069|http://identifiers.org/mesh/C535443|Orphanet:79303|https://omim.org/entry/235555	ordo_disease
MONDO:0024954	biolink:Disease	larva migrans, visceral	A condition produced in humans by the prolonged migration of animal nematode larvae in extraintestinal tissues other than skin; characterized by persistent hypereosinophilia, hepatomegaly, and frequently pneumonitis, commonly caused by Toxocara canis and Toxocara cati.	MESH:D007816	mondo.json	visceral larva migrans|visceral larva Migran|visceral larva migrans syndrome|larva Migran, visceral|Migran, visceral larva|migrans, visceral larva	http://purl.obolibrary.org/obo/MONDO_0024954	http://identifiers.org/mesh/D007816	
MONDO:0009338	biolink:Disease	hepatic veno-occlusive disease-immunodeficiency syndrome	Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.	UMLS:C1856128|OMIM:235550|GARD:0010083|Orphanet:79124|SCTID:724361001|MESH:C537257	mondo.json	veno-occlusive disease and immunodeficiency syndrome|familial veno-occlusive disease with immunodeficiency|hepatic veno-occlusive disease with immunodeficiency|VODI syndrome|hepatic venoocclusive disease with immunodeficiency|VODI	http://purl.obolibrary.org/obo/MONDO_0009338	http://identifiers.org/snomedct/724361001|UMLS:C1856128|http://identifiers.org/mesh/C537257|Orphanet:79124|https://omim.org/entry/235550	gard_rare|ordo_disease
MONDO:0012968	biolink:Disease	Usher syndrome type 1H	An Usher syndrome type 1 that has material basis in variation in the chromosome region 15q22-q23.	OMIM:612632|MESH:C567227|DOID:0110835|ICD10CM:H35.5|UMLS:C2675458	mondo.json	Usher syndrome, type 1H|Usher syndrome type IH|USH1H|USHER syndrome, type IH	http://purl.obolibrary.org/obo/MONDO_0012968	https://omim.org/entry/612632|http://identifiers.org/mesh/C567227|UMLS:C2675458|DOID:0110835	
MONDO:0010305	biolink:Disease	creatine transporter deficiency	X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.	OMIM:300352|NCIT:C125665|SCTID:698290008|DOID:0050800|ICD9:758.81|MESH:C535598|Orphanet:52503|GARD:0001608	mondo.json	creatine transporter deficiency|mental retardation, X-linked, with seizures, short stature, and midface hypoplasia|SLC6A8 deficiency|creatine deficiency, X-linked|cerebral creatine deficiency syndrome 1, X-linked recessive|intellectual disability, X-linked with seizures, short stature and midface hypoplasia|mental retardation, X-linked, with creatine Transport deficiency|X-linked creatine transporter deficiency|X-linked creatine deficiency syndrome|intellectual disability, X-linked, with creatine transport deficiency|X-linked creatine deficiency|cerebral creatine deficiency syndrome type 1|creatine transporter defect|intellectual disability, X-linked, with seizures, short stature, and midface hypoplasia|cerebral creatine deficiency syndrome 1|mental retardation, X-linked with seizures, short stature and midface hypoplasia|intellectual disability, X-linked, with creatine Transport deficiency|CCDS1|creatine deficiency syndrome, X-linked|mental retardation, X-linked, with creatine transport deficiency	http://purl.obolibrary.org/obo/MONDO_0010305	http://identifiers.org/snomedct/698290008|DOID:0050800|http://identifiers.org/mesh/C535598|https://omim.org/entry/300352|NCIT:C125665|Orphanet:52503	ordo_disease
MONDO:0012969	biolink:Disease	microvascular complications of diabetes, susceptibility to, 5	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the PON1 gene.	OMIM:612633	mondo.json	PON1 microvascular complications of diabetes, susceptibility|microvascular complications of diabetes, susceptibility to, type 5|MVCD5|retinopathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility caused by mutation in PON1|microvascular complications of diabetes, susceptibility to, 5|microvascular complications of diabetes 5	http://purl.obolibrary.org/obo/MONDO_0012969	https://omim.org/entry/612633	predisposition
MONDO:0009337	biolink:Disease	Hennekam lymphangiectasia-lymphedema syndrome 1	Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene.	OMIM:235510|UMLS:C4012050	mondo.json	Hennekam syndrome caused by mutation in CCBE1|Hennekam lymphangiectasia-lymphedema syndrome 1|Hennekam lymphangiectasia-lymphedema syndrome|lymphatic dysplasia, generalized|CCBE1 Hennekam syndrome|Hennekam lymphangiectasia-lymphedema syndrome type 1|HKLLS1	http://purl.obolibrary.org/obo/MONDO_0009337	UMLS:C4012050|https://omim.org/entry/235510	
MONDO:0010304	biolink:Disease	Graves disease, susceptibility to, X-linked 1		OMIM:300351	mondo.json	Graves disease, susceptibility to, X-linked 1|Graves disease, susceptibility to, X-linked|Graves disease, susceptibility to, X-linked 2|Grdx1|Graves disease, susceptibility to, X-linked type 1	http://purl.obolibrary.org/obo/MONDO_0010304	https://omim.org/entry/300351	predisposition
MONDO:0012966	biolink:Disease	microvascular complications of diabetes, susceptibility to, 4	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the IL1RN gene.	OMIM:612628	mondo.json	microvascular complications of diabetes 4|nephropathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, type 4|IL1RN microvascular complications of diabetes, susceptibility|microvascular complications of diabetes, susceptibility to, 4|microvascular complications of diabetes, susceptibility caused by mutation in IL1RN|MVCD4	http://purl.obolibrary.org/obo/MONDO_0012966	https://omim.org/entry/612628	predisposition
MONDO:0009336	biolink:Disease	hemosiderosis, pulmonary, with deficiency of gamma-a globulin		OMIM:235500	mondo.json	hemosiderosis, pulmonary, with deficiency of gamma-a globulin	http://purl.obolibrary.org/obo/MONDO_0009336	https://omim.org/entry/235500	
MONDO:0010307	biolink:Disease	intellectual disability, X-linked 73		MESH:C564528|OMIM:300355|UMLS:C1845860	mondo.json	mental retardation, X-linked 73, X-linked recessive|intellectual disability, X-linked 73|MRX73|mental retardation, X-linked 73	http://purl.obolibrary.org/obo/MONDO_0010307	UMLS:C1845860|http://identifiers.org/mesh/C564528|https://omim.org/entry/300355	
MONDO:0010306	biolink:Disease	X-linked intellectual disability, Cabezas type	X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.	OMIM:300354|SCTID:719811001|DOID:0060822|UMLS:C1845861|UMLS:C1845845|GARD:0013244|Orphanet:85293	mondo.json	MRXS15|mental retardation, X-linked, syndromic 15|Cabezas syndrome; syndromic X-linked intellectual disability 15|X-linked intellectual disability with short stature|intellectual disability, X-linked, with short stature|intellectual disability, X-linked, syndromic 15 (Cabezas type)|mental retardation, X-linked, syndromic 15 (Cabezas type)|X-linked mental retardation with short stature, hypogonadism, and abnormal gait|MRXSC|intellectual disability, X-linked, with short stature, hypogonadism, and abnormal Gait|intellectual disability, X-linked, syndromic, Cabezas type|Cul4B-related X-linked intellectual disability|X-linked mental retardation with short stature|X-linked intellectual disability with short stature, hypogonadism, and abnormal gait|mental retardation, X-linked, syndromic 15 (Cabezas type), X-linked recessive|X-linked intellectual disability, Cabezas type|Cabezas syndrome|syndromic X-linked intellectual disability Cabezas type|mental retardation, X-linked, with short stature|mental retardation, X-linked, syndromic, Cabezas type|Cabezas type of X-linked syndromic intellectual disability|Cabezas syndrome; syndromic X-linked mental retardation 15|mental retardation, X-linked, with short stature, hypogonadism, and abnormal Gait|intellectual disability, X-linked, syndromic 15|MRSS	http://purl.obolibrary.org/obo/MONDO_0010306	Orphanet:85293|http://identifiers.org/snomedct/719811001|UMLS:C1845861|UMLS:C1845845|https://omim.org/entry/300354|DOID:0060822	ordo_malformation_syndrome
MONDO:0012967	biolink:Disease	hemolytic anemia due to adenylate kinase deficiency	Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.	SCTID:766982000|Orphanet:86817|MESH:C567228|OMIM:612631|UMLS:C2675459	mondo.json	ADENYLATE KINASE deficiency, hemolytic anemia due to	http://purl.obolibrary.org/obo/MONDO_0012967	https://omim.org/entry/612631|http://identifiers.org/mesh/C567228|UMLS:C2675459|Orphanet:86817|http://identifiers.org/snomedct/766982000	ordo_disease
MONDO:0009335	biolink:Disease	hemolytic uremic syndrome, atypical, susceptibility to, 1		OMIM:235400	mondo.json	susceptibility to atypical hemolytic uremic syndrome 1|AHUS1|hemolytic uremic syndrome, atypical, susceptibility to|hemolytic uremic syndrome, atypical, susceptibility to, type 1|hemolytic uremic syndrome, typical|hemolytic uremic syndrome, atypical, susceptibility to, 1|Ahus, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0009335	https://omim.org/entry/235400	predisposition
MONDO:0010309	biolink:Disease	intellectual disability, X-linked 42		MESH:C564524|OMIM:300372|UMLS:C1845810	mondo.json	intellectual disability, X-linked 42|mental retardation, X-linked 42|MRX42	http://purl.obolibrary.org/obo/MONDO_0010309	UMLS:C1845810|http://identifiers.org/mesh/C564524|https://omim.org/entry/300372	
MONDO:0009334	biolink:Disease	hemolytic anemia with thermal sensitivity of red cells		MESH:C565522|UMLS:C1856158|OMIM:235370	mondo.json	hemolytic anemia with thermal sensitivity of red cells	http://purl.obolibrary.org/obo/MONDO_0009334	UMLS:C1856158|http://identifiers.org/mesh/C565522|https://omim.org/entry/235370	
MONDO:0009333	biolink:Disease	mullerian derivatives-lymphangiectasia-polydactyly syndrome	Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterised by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure.	GARD:0005430|UMLS:C1856159|OMIM:235255|MESH:C536478|Orphanet:1655	mondo.json	persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly|Urioste syndrome|Müllerian derivatives-lymphangiectasia-polydactyly syndrome|renal and craniofacial anomalies with persistence of mullerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly|MULLERIAN derivatives, persistence of, with lymphangiectasia and postaxial polydactyly	http://purl.obolibrary.org/obo/MONDO_0009333	UMLS:C1856159|Orphanet:1655|http://identifiers.org/mesh/C536478|https://omim.org/entry/235255	ordo_malformation_syndrome
MONDO:0010308	biolink:Disease	thrombocytopenia, X-linked, with or without dyserythropoietic anemia	An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present.	UMLS:C3550789|NCIT:C136653|OMIM:300367	mondo.json	XLTDA|thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked recessive|thrombocytopenia, X-linked, with or without dyserythropoietic anemia|X-linked thrombocytopenia, with or without dyserythropoietic Anemia	http://purl.obolibrary.org/obo/MONDO_0010308	NCIT:C136653|UMLS:C3550789|https://omim.org/entry/300367	
MONDO:0009332	biolink:Disease	congenital hematological disorder	A disorder of the blood that is present at birth.	NCIT:C104003	mondo.json	congenital hematological system disease|congenital hematological disorder	http://purl.obolibrary.org/obo/MONDO_0009332	NCIT:C104003	
MONDO:0009331	biolink:Disease	isolated hemihyperplasia	Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma.	MedDRA:10019463|MESH:C565524|UMLS:C1856184|Orphanet:2128|OMIM:235000|GARD:0002630	mondo.json	Hemicorporal hypertrophy|isolated hemihypertrophy|IH|hemihyperplasia|hemihypertrophy|hemi 3 syndrome|hemi-3 syndrome|hemihypertrophy, isolated|hemihyperplasia, isolated	http://purl.obolibrary.org/obo/MONDO_0009331	Orphanet:2128|UMLS:C1856184|https://omim.org/entry/235000|http://identifiers.org/mesh/C565524	ordo_morphological_anomaly
MONDO:0009330	biolink:Disease	hemangiopericytoma, malignant	An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone.	ICDO:9150/3|OMIM:234820|GARD:0002627|NCIT:C4301|MESH:C562740|UMLS:C0334542	mondo.json	hemangiopericytoma, malignant|malignant hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0009330	UMLS:C0334542|NCIT:C4301|http://identifiers.org/mesh/C562740|https://omim.org/entry/234820	
MONDO:0012971	biolink:Disease	microvascular complications of diabetes, susceptibility to, 7	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the HFE gene.	OMIM:612635	mondo.json	microvascular complications of diabetes, susceptibility to, 7|microvascular complications of diabetes 7|HFE microvascular complications of diabetes, susceptibility|MVCD7|microvascular complications of diabetes, susceptibility caused by mutation in HFE|proliferative retinopathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, type 7|nephropathy, diabetic, susceptibility to|nonproliferative retinopathy, diabetic, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0012971	https://omim.org/entry/612635	predisposition
MONDO:0012972	biolink:Disease	febrile seizures, familial, 10		UMLS:C2675251|DOID:0111304|OMIM:612637|MESH:C567218	mondo.json	febrile seizures, familial, 10|convulsions, familial febrile, 10|FEB10	http://purl.obolibrary.org/obo/MONDO_0012972	UMLS:C2675251|DOID:0111304|https://omim.org/entry/612637|http://identifiers.org/mesh/C567218	
MONDO:0010310	biolink:Disease	osteopathia striata with cranial sclerosis	Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.	OMIM:300373|DOID:0060886|EFO:0005834|GARD:0004148|SCTID:254129003|MESH:C536053|ICD9:733.99|UMLS:C0432268|Orphanet:2780	mondo.json	osteopathia striata - cranial sclerosis|Osteopathia striata with cranial sclerosis, X-linked dominant|osteopathia striata with cranial sclerosis|osteopathia striata-cranial sclerosis syndrome|hyperostosis generalisata with striations|OSCS|osteopathia striata cranial sclerosis|Robinow-Unger syndrome	http://purl.obolibrary.org/obo/MONDO_0010310	http://identifiers.org/mesh/C536053|Orphanet:2780|UMLS:C0432268|http://identifiers.org/snomedct/254129003|https://omim.org/entry/300373|DOID:0060886	ordo_malformation_syndrome
MONDO:0012970	biolink:Disease	microvascular complications of diabetes, susceptibility to, 6	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the SOD2 gene.	OMIM:612634	mondo.json	microvascular complications of diabetes 6|SOD2 microvascular complications of diabetes, susceptibility|microvascular complications of diabetes, susceptibility caused by mutation in SOD2|nephropathy, diabetic, susceptibility to|MVCD6|microvascular complications of diabetes, susceptibility to, type 6|microvascular complications of diabetes, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0012970	https://omim.org/entry/612634	predisposition
MONDO:0012975	biolink:Disease	autosomal dominant nonsyndromic hearing loss 3B	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.	MESH:C567215|OMIM:612643|UMLS:C2675237|DOID:0110565	mondo.json	autosomal dominant nonsyndromic deafness 3B|deafness, autosomal dominant type 3B|deafness, autosomal dominant 3b|DFNA3B|autosomal dominant deafness 3B|GJB6 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness type 3B|deafness, autosomal dominant 3B|autosomal dominant nonsyndromic deafness caused by mutation in GJB6	http://purl.obolibrary.org/obo/MONDO_0012975	http://identifiers.org/mesh/C567215|UMLS:C2675237|DOID:0110565|https://omim.org/entry/612643	
MONDO:0010312	biolink:Disease	radial ray deficiency, X-linked		MESH:C564523|OMIM:300378|UMLS:C1845717	mondo.json	radial ray deficiency|radial ray deficiency, X-linked|Rrdx	http://purl.obolibrary.org/obo/MONDO_0010312	UMLS:C1845717|http://identifiers.org/mesh/C564523|https://omim.org/entry/300378	
MONDO:0010311	biolink:Disease	Becker muscular dystrophy	Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.	SCTID:387732009|UMLS:C3490459|MedDRA:10059117|GARD:0005900|MESH:C570377|UMLS:C0699741|OMIM:300376|NCIT:C84587|DOID:9883|Orphanet:98895	mondo.json	muscular dystrophy pseudohypertrophic progressive, Becker type|BMD|benign pseudohypertrophic muscular dystrophy|muscular dystrophy, pseudohypertrophic progressive, Becker type|Becker muscular dystrophy|Becker's muscular dystrophy|Becker dystrophinopathy|Becker muscular dystrophy, X-linked recessive|muscular dystrophy, Becker type|benign congenital myopathy	http://purl.obolibrary.org/obo/MONDO_0010311	http://identifiers.org/mesh/C570377|Orphanet:98895|UMLS:C0699741|https://omim.org/entry/300376|http://identifiers.org/snomedct/387732009|NCIT:C84587|UMLS:C3490459|DOID:9883	gard_rare|ordo_disease
MONDO:0012976	biolink:Disease	autosomal dominant nonsyndromic hearing loss 2B	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene.	MESH:C567214|DOID:0110559|UMLS:C2675236|OMIM:612644	mondo.json	DFNA2B|autosomal dominant nonsyndromic deafness caused by mutation in GJB3|autosomal dominant nonsyndromic deafness 2B|deafness, autosomal dominant type 2B|deafness, autosomal dominant 2b|autosomal dominant nonsyndromic deafness type 2B|GJB3 autosomal dominant nonsyndromic deafness|autosomal dominant deafness 2B|deafness, autosomal dominant 2B	http://purl.obolibrary.org/obo/MONDO_0012976	http://identifiers.org/mesh/C567214|UMLS:C2675236|DOID:0110559|https://omim.org/entry/612644	
MONDO:0010314	biolink:Disease	polymicrogyria, bilateral perisylvian, X-linked		OMIM:300388|SCTID:438583008	mondo.json	perisylvian syndrome, congenital bilateral|BPPX|BPP|polymicrogyria, bilateral perisylvian, X-linked|PMGX|polymicrogyria, bilateral perisylvian, X-linked dominant	http://purl.obolibrary.org/obo/MONDO_0010314	https://omim.org/entry/300388|http://identifiers.org/snomedct/438583008	
MONDO:0012973	biolink:Disease	inflammatory bowel disease 26	An inflammatory bowel disease that has material basis in variation in the chromosome region 12q15.	MESH:C567217|DOID:0110901|OMIM:612639|UMLS:C2675249	mondo.json	IBD26|inflammatory bowel disease type 26|inflammatory bowel disease 26	http://purl.obolibrary.org/obo/MONDO_0012973	UMLS:C2675249|DOID:0110901|https://omim.org/entry/612639|http://identifiers.org/mesh/C567217	
MONDO:0012974	biolink:Disease	autosomal dominant nonsyndromic hearing loss 59	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 11p14.2-q12.3.	MESH:C567216|UMLS:C2675238|OMIM:612642|DOID:0110583	mondo.json	deafness, autosomal dominant 59|DFNA59|autosomal dominant nonsyndromic deafness type 59|autosomal dominant nonsyndromic deafness 59|autosomal dominant deafness 59	http://purl.obolibrary.org/obo/MONDO_0012974	http://identifiers.org/mesh/C567216|UMLS:C2675238|DOID:0110583|https://omim.org/entry/612642	
MONDO:0010313	biolink:Disease	intellectual disability, X-linked 63	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene.	MESH:C564522|OMIM:300387|UMLS:C1845672|GARD:0005613	mondo.json	mental retardation, X-linked 68|intellectual disability, X-linked 63|intellectual disability, X-linked type 63|ACSL4 non-syndromic X-linked intellectual disability|non-syndromic X-linked intellectual disability caused by mutation in ACSL4|MRX63|intellectual developmental disorder, X-linked 63, X-linked dominant|ACSL4-related intellectual disability|mental retardation, X-linked 63|intellectual disability, X-linked 68|mental retardation, X-linked type 63	http://purl.obolibrary.org/obo/MONDO_0010313	UMLS:C1845672|http://identifiers.org/mesh/C564522|https://omim.org/entry/300387	
MONDO:0024945	biolink:Disease	hepatitis, non-human animal	Inflammation of the liver in non-human animals.	MESH:D006520	mondo.json	Hepatitides, animal|animal Hepatitis|animal Hepatitides	http://purl.obolibrary.org/obo/MONDO_0024945	http://identifiers.org/mesh/D006520	
MONDO:0000999	biolink:Disease	obsolete pneumoconiosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000999		
MONDO:0000998	biolink:Disease	obsolete parotid disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000998		
MONDO:0000971	biolink:Disease	chest wall lipoma	A benign adipose tissue neoplasm of the chest wall.	SCTID:448270009|UMLS:C1332932|NCIT:C6719|DOID:10200|ICD9:214.8	mondo.json	lipoma of chest wall|chest wall lipoma|lipoma of the chest wall	http://purl.obolibrary.org/obo/MONDO_0000971	UMLS:C1332932|NCIT:C6719|http://identifiers.org/snomedct/448270009|DOID:10200	
MONDO:0000970	biolink:Disease	breast lipoma	A benign, mesenchymal neoplasm that arises from the breast. It is surrounded by a thin capsule and composed of mature adipose tissue cells. Atypia is absent.	ICD9:214.1|UMLS:C0349565|DOID:10199|SCTID:276891009|NCIT:C4647	mondo.json	lipoma of breast|breast lipoma|lipoma of the breast	http://purl.obolibrary.org/obo/MONDO_0000970	http://identifiers.org/snomedct/276891009|UMLS:C0349565|DOID:10199|NCIT:C4647	
MONDO:0000975	biolink:Disease	lipoma of spermatic cord	A benign adipose tissue neoplasm of the spermatic cord. This is the most common tumor amongst the benign paratesticular lesions.	UMLS:C0153972|ICD9:214.4|NCIT:C3606|DOID:10206|SCTID:93162007	mondo.json	lipoma of the spermatic cord|lipoma of spermatic cord|spermatic cord lipoma	http://purl.obolibrary.org/obo/MONDO_0000975	http://identifiers.org/snomedct/93162007|NCIT:C3606|UMLS:C0153972|DOID:10206	
MONDO:0009309	biolink:Disease	granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene.	MESH:C565532|UMLS:C1856251|OMIM:233700|DOID:0070192	mondo.json	Soc2, deficiency of|p47-PHOX, deficiency of|granulomatous disease, chronic, due to Ncf1 deficiency|soluble oxidase component II, deficiency of|CDG1|NCF1 chronic granulomatous disease|Ncf1, deficiency of|granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type I|chronic granulomatous disease caused by mutation in NCF1|neutrophil cytosol Factor 1, deficiency of|CGD, autosomal recessive cytochrome B-positive, type 1|chronic granulomatous disease 1, autosomal recessive|granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	http://purl.obolibrary.org/obo/MONDO_0009309	http://identifiers.org/mesh/C565532|DOID:0070192|https://omim.org/entry/233700|UMLS:C1856251	
MONDO:0000974	biolink:Disease	axillary lipoma	A benign adipose tissue neoplasm of the axilla.	DOID:10205|NCIT:C35419|ICD9:214.8|UMLS:C0347429|SCTID:188993006	mondo.json	lipoma of axilla|axilla lipoma|axillary lipoma	http://purl.obolibrary.org/obo/MONDO_0000974	http://identifiers.org/snomedct/188993006|NCIT:C35419|DOID:10205|UMLS:C0347429	
MONDO:0009308	biolink:Disease	granulomatous disease, chronic, autosomal recessive, cytochrome b-negative		OMIM:233690|DOID:0070193|UMLS:C1856255|MESH:C565533	mondo.json	Cyba deficiency|granulomatous disease, chronic, autosomal recessive, cytochrome b-negative|CGD, autosomal recessive cytochrome B-negative|CGD due to deficiency of the Alpha Subunit of cytochrome B|chronic granulomatous disease 4, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009308	http://identifiers.org/mesh/C565533|https://omim.org/entry/233690|DOID:0070193|UMLS:C1856255	
NCBITaxon:6854	biolink:OrganismalEntity	Arachnida		GC_ID:1	mondo.json	arachnids|arachnids	http://purl.obolibrary.org/obo/NCBITaxon_6854		
MONDO:0009307	biolink:Disease	granulomatous disease with defect in neutrophil chemotaxis		UMLS:C1856261|OMIM:233670|MESH:C565534	mondo.json	granulomatous disease with defect in neutrophil chemotaxis	http://purl.obolibrary.org/obo/MONDO_0009307	http://identifiers.org/mesh/C565534|https://omim.org/entry/233670|UMLS:C1856261	
MONDO:0000973	biolink:Disease	external ear lipoma	A benign adipose tissue neoplasm of the external ear.	UMLS:C0347423|ICD9:215.0|SCTID:188988008|NCIT:C4618|DOID:10203	mondo.json	lipoma of the external ear|external ear lipoma|lipoma of external auditory meatus|lipoma of the external auditory meatus|external Ear lipoma|lipoma of external ear|lipoma of external Ear|lipoma of the external Ear|external auditory meatus lipoma	http://purl.obolibrary.org/obo/MONDO_0000973	http://identifiers.org/snomedct/188988008|DOID:10203|UMLS:C0347423|NCIT:C4618	
MONDO:0000972	biolink:Disease	gallbladder lipoma	A benign adipose tissue neoplasm involving the gallbladder wall.	NCIT:C5835|UMLS:C1333747|DOID:10201	mondo.json	lipoma of gallbladder|lipoma of the gallbladder|gallbladder lipoma|lipoma of gall bladder|gall bladder lipoma	http://purl.obolibrary.org/obo/MONDO_0000972	UMLS:C1333747|DOID:10201|NCIT:C5835	
MONDO:0009306	biolink:Disease	combined immunodeficiency with skin granulomas		UMLS:C2673536|MESH:C567115|OMIM:233650|Orphanet:157949	mondo.json	CCHIDG|combined immunodeficiency due to RAG 1/2 deficiency|CID due to RAG 1/2 deficiency|combined cellular and humoral immune defects with granulomas	http://purl.obolibrary.org/obo/MONDO_0009306	UMLS:C2673536|Orphanet:157949|https://omim.org/entry/233650|http://identifiers.org/mesh/C567115	ordo_disease
MONDO:0009305	biolink:Disease	granulocytopenia with immunoglobulin abnormality		UMLS:C1856263|OMIM:233600|MESH:C565535	mondo.json	immunodeficiency 59 and hypoglycemia|granulocytopenia with immunoglobulin abnormality	http://purl.obolibrary.org/obo/MONDO_0009305	http://identifiers.org/mesh/C565535|https://omim.org/entry/233600|UMLS:C1856263	
MONDO:0012957	biolink:Disease	multiple sclerosis, susceptibility to, 3		OMIM:612595	mondo.json	MS3|multiple sclerosis, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0012957	https://omim.org/entry/612595	predisposition
MONDO:0012958	biolink:Disease	multiple sclerosis, susceptibility to, 4		OMIM:612596	mondo.json	MS4|multiple sclerosis, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0012958	https://omim.org/entry/612596	predisposition
MONDO:0009304	biolink:Disease	obsolete Gorlin-Chaudhry-Moss syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009304		
MONDO:0009303	biolink:Disease	anti-glomerular basement membrane disease	An autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide.	UMLS:C0403529|GARD:0002551|MedDRA:10018620|DOID:9808|ICD9:446.21|OMIM:233450|NCIT:C84566|MESH:D019867|Orphanet:375|SCTID:236432001|ICD10EXP:M31.0+|EFO:0007290|ICD10EXP:N08.5*	mondo.json	anti-GBM syndrome|anti-glomerular basement membrane disease|Goodpasture syndrome|anti-glomerular basement membrane antibody disease|rapidly progressive glomerulonephritis with pulmonary hemorrhage|pulmonary renal syndrome|glomerulonephritis - pulmonary hemorrhage	http://purl.obolibrary.org/obo/MONDO_0009303	http://identifiers.org/snomedct/236432001|UMLS:C0403529|http://identifiers.org/mesh/D019867|NCIT:C84566|DOID:9808|https://omim.org/entry/233450|Orphanet:375	ordo_disease|gard_rare
MONDO:0012955	biolink:Disease	lung cancer susceptibility 4		UMLS:C2675479|OMIM:612593	mondo.json	lung cancer susceptibility 4|LNCR4	http://purl.obolibrary.org/obo/MONDO_0012955	https://omim.org/entry/612593|UMLS:C2675479	predisposition
MONDO:0009302	biolink:Disease	XY type gonadal dysgenesis-associated anomalies syndrome	Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive.	GARD:0002541|UMLS:C1856272|Orphanet:1770|MESH:C565536|OMIM:233430	mondo.json	gonadal dysgenesis, 10Y type, with associated anomalies|gonadal dysgenesis, XY type, with associated anomalies|gonadal dysgenesis XY type associated anomalies	http://purl.obolibrary.org/obo/MONDO_0009302	https://omim.org/entry/233430|UMLS:C1856272|Orphanet:1770|http://identifiers.org/mesh/C565536	ordo_malformation_syndrome|gard_rare
MONDO:0012956	biolink:Disease	multiple sclerosis, susceptibility to, 2		OMIM:612594	mondo.json	multiple sclerosis, susceptibility to, 2|MS2	http://purl.obolibrary.org/obo/MONDO_0012956	https://omim.org/entry/612594	predisposition
MONDO:0009301	biolink:Disease	46,XY sex reversal 7		DOID:0111774|MESH:C565537|OMIM:233420	mondo.json	46,XY Sex reversal, partial or complete, Dhh-related|46XY sex reversal 7|46,XY gonadal dysgenesis, partial or complete, Dhh-related|46,XY SEX reversal 7|46,XY sex reversal 7|46,XY Sex reversal type 7|SRXY7|gonadal dysgenesis, XY, Male-limited	http://purl.obolibrary.org/obo/MONDO_0009301	https://omim.org/entry/233420|http://identifiers.org/mesh/C565537|DOID:0111774	
MONDO:0009300	biolink:Disease	Perrault syndrome 1	Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene.	OMIM:233400	mondo.json	Perrault syndrome caused by mutation in HSD17B4|ovarian dysgenesis with sensorineural deafness|Perrault syndrome type 1|gonadal dysgenesis, 20 type, with deafness|PRLTS1|Perrault syndrome 1|HSD17B4 Perrault syndrome	http://purl.obolibrary.org/obo/MONDO_0009300	https://omim.org/entry/233400	
MONDO:0012959	biolink:Disease	psoriasis 11, susceptibility to		DOID:0111285|OMIM:612599	mondo.json	PSORS11|psoriasis susceptibility 11|psoriasis 11, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0012959	https://omim.org/entry/612599|DOID:0111285	
MONDO:0012960	biolink:Disease	intellectual disability, autosomal dominant 5	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene.	GARD:0012558|DOID:0070035|MESH:C567234|UMLS:C2675473|OMIM:612621	mondo.json	mental retardation, autosomal dominant 5|SYNGAP1-related NSID|mental retardation, autosomal dominant type 5|SYNGAP1 syndrome|autosomal dominant intellectual disability 5|autosomal dominant mental retardation 5|SYNGAP1-related non-syndromic intellectual disability|intellectual disability, autosomal dominant 5|MRD5|intellectual disability, autosomal dominant type 5|autosomal dominant non-syndromic intellectual disability 5|autosomal dominant non-syndromic intellectual disability caused by mutation in SYNGAP1|SYNGAP1 autosomal dominant non-syndromic intellectual disability|SYNGAP1 Gene mutation linked to intellectual disability, schizophrenia and autism	http://purl.obolibrary.org/obo/MONDO_0012960	http://identifiers.org/mesh/C567234|UMLS:C2675473|DOID:0070035|https://omim.org/entry/612621	
MONDO:0012961	biolink:Disease	type 1 diabetes mellitus 23	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 4q27.	OMIM:612622|MESH:C567233|DOID:0110760|UMLS:C2675472	mondo.json	diabetes mellitus, insulin-dependent, 23|insulin-dependent diabetes mellitus 23|IDDM23	http://purl.obolibrary.org/obo/MONDO_0012961	http://identifiers.org/mesh/C567233|UMLS:C2675472|DOID:0110760|https://omim.org/entry/612622	
GO:1905349	biolink:NamedThing	ciliary transition zone assembly	The aggregation, arrangement and bonding together of a set of components to form a ciliary transition zone.		mondo.json	cilial transition zone assembly|ciliary transition zone formation|cilial transition zone formation|cilium transition zone assembly|cilium transition zone formation	http://purl.obolibrary.org/obo/GO_1905349		
MONDO:0012964	biolink:Disease	chromosome 15q26-qter deletion syndrome	Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.	OMIM:612626|UMLS:C2675463|DOID:0060397|MESH:C567232|SCTID:766050000|Orphanet:1596	mondo.json	distal monosomy type 15q|Drayer syndrome|15q26 deletion syndrome|chromosome 15q26-qter deletion syndrome|distal 15q deletion syndrome|chromosome 15q26-qter deletion syndrome, isolated cases|telomeric 15q deletion syndrome|monosomy 15q26|distal monosomy 15q	http://purl.obolibrary.org/obo/MONDO_0012964	http://identifiers.org/mesh/C567232|Orphanet:1596|UMLS:C2675463|http://identifiers.org/snomedct/766050000|DOID:0060397|https://omim.org/entry/612626	ordo_malformation_syndrome
MONDO:0010301	biolink:Disease	obsolete thrombocythemia, X-linked			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010301		
MONDO:0012965	biolink:Disease	seizures, benign familial infantile, 4		OMIM:612627|UMLS:C2675462|MESH:C567231	mondo.json	convulsions, benign familial infantile, 4|seizures, benign familial infantile, 4|BFIS4	http://purl.obolibrary.org/obo/MONDO_0012965	https://omim.org/entry/612627|http://identifiers.org/mesh/C567231|UMLS:C2675462	
MONDO:0010300	biolink:Disease	intellectual disability, X-linked 53		OMIM:300324|MESH:C564533|UMLS:C1845889	mondo.json	intellectual disability, X-linked 53|MRX53|mental retardation, X-linked 53|mental retardation, X-linked 53, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0010300	UMLS:C1845889|http://identifiers.org/mesh/C564533|https://omim.org/entry/300324	
MONDO:0012962	biolink:Disease	microvascular complications of diabetes, susceptibility to, 2	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the EPO gene.	OMIM:612623	mondo.json	microvascular complications of diabetes, susceptibility caused by mutation in EPO|MVCD2|microvascular complications of diabetes, susceptibility to, type 2|end-stage renal disease, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, 2|microvascular complications of diabetes 2|EPO microvascular complications of diabetes, susceptibility|proliferative retinopathy, diabetic, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0012962	https://omim.org/entry/612623	predisposition
MONDO:0010303	biolink:Disease	obsolete colobomatous microphthalmia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010303		
MONDO:0012963	biolink:Disease	microvascular complications of diabetes, susceptibility to, 3	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the ACE gene.	OMIM:612624	mondo.json	nephropathy, diabetic, susceptibility to|MVCD3|microvascular complications of diabetes, susceptibility caused by mutation in ACE|microvascular complications of diabetes, susceptibility to, type 3|end-stage renal disease, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, 3|microvascular complications of diabetes 3|ACE microvascular complications of diabetes, susceptibility	http://purl.obolibrary.org/obo/MONDO_0012963	https://omim.org/entry/612624	predisposition
MONDO:0010302	biolink:Disease	Ito hypomelanosis	Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines.	UMLS:C0022283|OMIM:300337|Orphanet:435|DOID:3156|GARD:0002992	mondo.json	Incontinentia pigmenti type 1|Incontinentia pigmenti achromians|IPA|HMI|Incontinentia pigmenti, type I, formerly|Ito|hi syndrome|Incontinentia pigmenti, type I|pigmentary mosaicism, Ito type|hypomelanosis of Ito|Ito hypomelanosis|Incontinentia pigmenti type 1 (formerly)	http://purl.obolibrary.org/obo/MONDO_0010302	Orphanet:435|DOID:3156|https://omim.org/entry/300337	ordo_disease
MONDO:0024935	biolink:Disease	foot rot	A disease of the horny parts and of the adjacent soft structures of the feet of cattle, swine, and sheep. It is usually caused by Corynebacterium pyogenes or Bacteroides nodosus (see dichelobacter nodosus). It is also known as interdigital necrobacillosis. (From Black's Veterinary Dictionary, 18th ed)	UMLS:C0016513|MESH:D005535	mondo.json	foot Rots|Rots, foot|rot, foot	http://purl.obolibrary.org/obo/MONDO_0024935	http://identifiers.org/mesh/D005535|UMLS:C0016513	
MONDO:0000968	biolink:Disease	kidney lipoma	A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain.	DOID:10194|NCIT:C5101|UMLS:C1335744	mondo.json	kidney lipoma|renal lipoma|lipoma of kidney|lipoma of the kidney	http://purl.obolibrary.org/obo/MONDO_0000968	DOID:10194|UMLS:C1335744|NCIT:C5101	
MONDO:0000967	biolink:Disease	conventional lipoma	A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones.	NCIT:C27530|DOID:10193|UMLS:C1333059	mondo.json	classic type lipoma|conventional lipoma	http://purl.obolibrary.org/obo/MONDO_0000967	DOID:10193|UMLS:C1333059|NCIT:C27530	
MONDO:0024934	biolink:Disease	fish disease	Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates).	MESH:D005393|UMLS:C0016154	mondo.json	fish disease|disease, fish|diseases, fish	http://purl.obolibrary.org/obo/MONDO_0024934	UMLS:C0016154|http://identifiers.org/mesh/D005393	
MONDO:0000966	biolink:Disease	pleomorphic lipoma	A benign circumscribed tumor characterized by small spindle cells, rounded hyperchromatic cells and multinucleated giant cells with radially arranged nuclei.	ICDO:8854/0|UMLS:C0205823|NCIT:C3703|DOID:10192|SCTID:404059000	mondo.json	pleomorphic lipoma|pleomorphic lipoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0000966	DOID:10192|http://identifiers.org/snomedct/404059000|NCIT:C3703|UMLS:C0205823	
MONDO:0000965	biolink:Disease	liver lipoma	A rare benign adipose tissue neoplasm of the liver.	NCIT:C5750|DOID:10190|UMLS:C1333970	mondo.json	lipoma of the liver|liver lipoma|hepatic lipoma|lipoma of liver	http://purl.obolibrary.org/obo/MONDO_0000965	NCIT:C5750|UMLS:C1333970|DOID:10190	
MONDO:0000969	biolink:Disease	pleural lipoma	A benign adipose tissue neoplasm of the pleural cavity. It may be purely intra-thoracic or extend to the chest wall.	SCTID:2460001000004103|UMLS:C1335434|DOID:10195|NCIT:C6644	mondo.json	pleura lipoma|pleural lipoma|lipoma of pleura|lipoma of the pleura	http://purl.obolibrary.org/obo/MONDO_0000969	DOID:10195|UMLS:C1335434|http://identifiers.org/snomedct/2460001000004103|NCIT:C6644	
MONDO:0000982	biolink:Disease	obsolete Brown's tendon sheath syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000982		
MONDO:0000981	biolink:Disease	Histoplasma pericarditis	An pericarditis (disease) caused by infection with Histoplasma.	SCTID:187059008|DOID:10234|ICD9:115.93|UMLS:C0153279	mondo.json	histoplasmosis pericarditis|acute Histoplasma pericarditis|histoplasmosis with pericarditis|Histoplasma caused pericarditis (disease)|Histoplasma pericarditis (disease)	http://purl.obolibrary.org/obo/MONDO_0000981	http://identifiers.org/snomedct/187059008|UMLS:C0153279|DOID:10234	
MONDO:0000980	biolink:Disease	aortic atherosclerosis	A atherosclerosis that involves the aorta.	SCTID:81817003|HP:0012397|DOID:10230|ICD9:440.0|UMLS:C0155733	mondo.json	aortic atherosclerosis|aortic atherosclerosis (disease)|aorta atherosclerosis|atherosclerosis of aorta	http://purl.obolibrary.org/obo/MONDO_0000980	UMLS:C0155733|DOID:10230|http://identifiers.org/snomedct/81817003	
MONDO:0000986	biolink:Disease	pleurisy	Inflammation of the pleura. It is usually caused by infections. Chest pain while breathing or coughing is the presenting symptom.	ICD9:511.8|SCTID:196075003|ICD10CM:R09.1|NCIT:C26860|UMLS:C0032231|DOID:10247|MESH:D010998|EFO:1001825	mondo.json	pleura inflammation|inflammation of pleura|pleuritis	http://purl.obolibrary.org/obo/MONDO_0000986	http://purl.bioontology.org/ontology/ICD10CM/R09.1|http://identifiers.org/mesh/D010998|DOID:10247|NCIT:C26860|http://identifiers.org/snomedct/196075003|UMLS:C0032231	
MONDO:0009319	biolink:Disease	pantothenate kinase-associated neurodegeneration	Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.	DOID:3981|MESH:D006211|UMLS:C0018523|GARD:0006564|Orphanet:157850|OMIM:234200|SCTID:2992000|NCIT:C84988|ICD9:333.0	mondo.json	neuroaxonal dystrophy, late infantile|pigmentary pallidal degeneration|pantothenate kinase-associated neurodegeneration|NBIA1|neurodegeneration with brain iron accumulation type 1|neurodegeneration with brain iron accumulation 1|PKAN|Hallervorden-Spatz syndrome|brain iron accumulation type I syndrome|Hallervorden-Spatz disease|Pkan neuroaxonal dystrophy, juvenile-onset	http://purl.obolibrary.org/obo/MONDO_0009319	http://identifiers.org/snomedct/2992000|http://identifiers.org/mesh/D006211|DOID:3981|UMLS:C0018523|https://omim.org/entry/234200|Orphanet:157850|NCIT:C84988	ordo_disease
MONDO:0000985	biolink:Disease	obsolete ehrlichiosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000985		
MONDO:0000984	biolink:Disease	thalassemia	An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.	ICD9:282.4|ICD10CM:D56|EFO:1001996|MESH:D013789|UMLS:C0039730|ICD9:282.40|NCIT:C35069|GARD:0007756|SCTID:40108008|ICD9:282.49|DOID:10241	mondo.json	thalassemia Hb-S disease with crisis|sickle-cell thalassemia with crisis|sickle-cell thalassemia without crisis|thalassemia Hb-S disease without crisis	http://purl.obolibrary.org/obo/MONDO_0000984	NCIT:C35069|UMLS:C0039730|http://identifiers.org/mesh/D013789|http://purl.bioontology.org/ontology/ICD10CM/D56|DOID:10241|http://identifiers.org/snomedct/40108008	
MONDO:0009318	biolink:Disease	Hallermann-Streiff syndrome	Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.	GARD:0000288|Orphanet:2108|SCTID:7903009|NCIT:C84746|OMIM:234100|MESH:D006210|DOID:4534|UMLS:C0018522	mondo.json	oculomandibulofacial syndrome|Hallermann Streiff syndrome|Hallermann Streiff Francois syndrome|Hallermann's syndrome|Hallerman - Streiff syndrome|Hallermann syndrome|Hallermann-Streiff syndrome|François dyscephalic syndrome|FranC'ois dyscephalic syndrome|Francois dyscephalic syndrome|HSS	http://purl.obolibrary.org/obo/MONDO_0009318	http://identifiers.org/mesh/D006210|https://omim.org/entry/234100|UMLS:C0018522|NCIT:C84746|http://identifiers.org/snomedct/7903009|Orphanet:2108|DOID:4534	ordo_malformation_syndrome|gard_rare
MONDO:0000983	biolink:Disease	exhibitionism	A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger.	ICD10CM:F65.2|DOID:10236|SCTID:58349009|MESH:D005084|ICD9:302.4|NCIT:C94352	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000983	http://identifiers.org/snomedct/58349009|http://identifiers.org/mesh/D005084|http://purl.bioontology.org/ontology/ICD10CM/F65.2|DOID:10236|NCIT:C94352	
MONDO:0009317	biolink:Disease	obsolete nonphotosensitive trichothiodystrophy	OBSOLETE. A trichothiodystrophy that is non-photosensitive	Orphanet:1245	mondo.json		http://purl.obolibrary.org/obo/MONDO_0009317	Orphanet:1245	
MONDO:0012946	biolink:Disease	intellectual disability, autosomal dominant 3	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene.	MESH:C567241|UMLS:C2675488|DOID:0070033|OMIM:612580	mondo.json	autosomal dominant non-syndromic intellectual disability 3|mental retardation, autosomal dominant 3|mental retardation, autosomal dominant type 3|intellectual disability, autosomal dominant 3|MRD3|intellectual disability, autosomal dominant type 3|autosomal dominant intellectual disability 3|autosomal dominant non-syndromic intellectual disability caused by mutation in CDH15|CDH15 autosomal dominant non-syndromic intellectual disability|autosomal dominant mental retardation 3	http://purl.obolibrary.org/obo/MONDO_0012946	DOID:0070033|https://omim.org/entry/612580|http://identifiers.org/mesh/C567241|UMLS:C2675488	
MONDO:0009316	biolink:Disease	obsolete hair defect-photosensitivity-intellectual disability syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009316		
MONDO:0009315	biolink:Disease	congenital factor XII deficiency	Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.	SCTID:46981006|MESH:D005175|DOID:2231|UMLS:C0015526|NCIT:C131740|Orphanet:330|ICD9:286.3|OMIM:234000|GARD:0006558	mondo.json	F12 deficiency|factor XII deficiency|congenital Hageman factor deficiency|deficiency, Hageman|congenital factor XII deficiency|coagulation factor 12 deficiency|Haf deficiency|Hageman Factor deficiency|factor 12 deficiency|factor XII deficiency disease	http://purl.obolibrary.org/obo/MONDO_0009315	DOID:2231|http://identifiers.org/mesh/D005175|https://omim.org/entry/234000|NCIT:C131740|http://identifiers.org/snomedct/46981006|UMLS:C0015526|Orphanet:330	ordo_disease|gard_rare
MONDO:0012947	biolink:Disease	intellectual disability, autosomal dominant 4	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the KIRREL3 gene.	MESH:C567240|UMLS:C2675487|DOID:0070034|OMIM:612581	mondo.json	mental retardation, autosomal dominant type 4|autosomal dominant non-syndromic intellectual disability 4|intellectual disability, autosomal dominant 4|MRD4|autosomal dominant non-syndromic intellectual disability caused by mutation in KIRREL3|intellectual disability, autosomal dominant type 4|autosomal dominant intellectual disability 4|autosomal dominant mental retardation 4|mental retardation, autosomal dominant 4|KIRREL3 autosomal dominant non-syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0012947	DOID:0070034|https://omim.org/entry/612581|http://identifiers.org/mesh/C567240|UMLS:C2675487	
MONDO:0012944	biolink:Disease	chromosome 17P13.3, telomeric, duplication syndrome		UMLS:C2675492|OMIM:612576|MESH:C567245	mondo.json	chromosome 17P13.3, telomeric, duplication syndrome|split-hand/foot malformation with long bone deficiency 3	http://purl.obolibrary.org/obo/MONDO_0012944	https://omim.org/entry/612576|http://identifiers.org/mesh/C567245|UMLS:C2675492	
MONDO:0009314	biolink:Disease	obsolete GTP-cyclohydrolase I deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009314		
MONDO:0012945	biolink:Disease	amyotrophic lateral sclerosis type 11	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FIG4 gene.	OMIM:612577|UMLS:C2675491|DOID:0060202|GARD:0010496|MESH:C567244	mondo.json	amyotrophic lateral sclerosis caused by mutation in FIG4|amyotrophic lateral sclerosis type 11|ALS11|amyotrophic lateral sclerosis 11|FIG4 amyotrophic lateral sclerosis	http://purl.obolibrary.org/obo/MONDO_0012945	https://omim.org/entry/612577|http://identifiers.org/mesh/C567244|UMLS:C2675491|DOID:0060202	gard_rare
MONDO:0009313	biolink:Disease	Grubben-de Cock-Borghgraef syndrome	Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.	OMIM:233810|Orphanet:2101|UMLS:C2931551|GARD:0002576|MESH:C537621	mondo.json	severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin|growth retardation, small and puffy hands and feet, and eczema|developmental delay-hypotonia-extremities hypertrophy syndrome|developmental delay - hypotonia - extremities hypertrophy|Grubben de Cock Borghgraef syndrome	http://purl.obolibrary.org/obo/MONDO_0009313	UMLS:C2931551|https://omim.org/entry/233810|Orphanet:2101|http://identifiers.org/mesh/C537621	gard_rare|ordo_malformation_syndrome
MONDO:0009312	biolink:Disease	lipodystrophy due to peptidic growth factors deficiency	Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk).	SCTID:724176001|MESH:C565529|GARD:0012604|UMLS:C2931279|Orphanet:1979|OMIM:233805|GARD:0004280	mondo.json	combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency|Werner-like syndrome due to combined Growth Factor deficiency|growth factors, combined defect OF|peptide growth factors deficiency|Werner-like syndrome due to combined growth factor deficiency|peptidic growth factors deficiency|Hoepffner Dreyer Reimers syndrome|Hoepffner-Dreyer-Reimers syndrome|insulin, insulin-like Growth Factor I, and Epidermal Growth Factor deficiency	http://purl.obolibrary.org/obo/MONDO_0009312	http://identifiers.org/snomedct/724176001|UMLS:C2931279|https://omim.org/entry/233805|Orphanet:1979|http://identifiers.org/mesh/C565529	ordo_disease
MONDO:0009311	biolink:Disease	grouped pigmentation of the retina		UMLS:C1856244|OMIM:233800|MESH:C565530	mondo.json	grouped pigmentation of the retina|grouped pigmentation of retinal pigment epithelium|grouped pigmentation of the macula	http://purl.obolibrary.org/obo/MONDO_0009311	https://omim.org/entry/233800|UMLS:C1856244|http://identifiers.org/mesh/C565530	
MONDO:0009310	biolink:Disease	granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene.	DOID:0070191|OMIM:233710|MESH:C565531|UMLS:C1856245	mondo.json	chronic granulomatous disease caused by mutation in NCF2|Ncf2, deficiency of|neutrophil cytosol Factor 2, deficiency of|CGD, autosomal recessive cytochrome B-positive, type 2|granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2|granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type II|chronic granulomatous disease 2, autosomal recessive|P67-PHOX, deficiency of|granulomatous disease, chronic, due to Ncf2 deficiency|NCF2 chronic granulomatous disease|CDG2	http://purl.obolibrary.org/obo/MONDO_0009310	DOID:0070191|https://omim.org/entry/233710|UMLS:C1856245|http://identifiers.org/mesh/C565531	
MONDO:0012948	biolink:Disease	chromosome 6pter-p24 deletion syndrome	Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.	UMLS:C2675486|MESH:C567239|DOID:0060422|SCTID:718688008|UMLS:C4305276|Orphanet:96125|OMIM:612582	mondo.json	distal deletion 6p|chromosome 6pter-p24 deletion syndrome|6p subtelomeric deletion syndrome|monosomy 6p25|chromosome 6pter-p24 deletion syndrome, isolated cases|6p25 microdeletion syndrome|distal monosomy type 6p|distal monosomy 6p	http://purl.obolibrary.org/obo/MONDO_0012948	http://identifiers.org/snomedct/718688008|DOID:0060422|https://omim.org/entry/612582|http://identifiers.org/mesh/C567239|UMLS:C4305276|UMLS:C2675486|Orphanet:96125	ordo_malformation_syndrome
MONDO:0012949	biolink:Disease	aneurysm, intracranial berry, 9		UMLS:C2675485|MESH:C567238|OMIM:612586	mondo.json	aneurysm, intracranial BERRY, 9|ANIB9	http://purl.obolibrary.org/obo/MONDO_0012949	https://omim.org/entry/612586|http://identifiers.org/mesh/C567238|UMLS:C2675485	
MONDO:0012950	biolink:Disease	aneurysm, intracranial berry, 10		MESH:C567237|OMIM:612587|UMLS:C2675484	mondo.json	ANIB10|aneurysm, intracranial BERRY, 10	http://purl.obolibrary.org/obo/MONDO_0012950	http://identifiers.org/mesh/C567237|UMLS:C2675484|https://omim.org/entry/612587	
MONDO:0012953	biolink:Disease	colorectal cancer, susceptibility to, 10	Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene.	OMIM:612591	mondo.json	colorectal cancer caused by mutation in POLD1|colorectal cancer, susceptibility to, on chromosome 19Q|colorectal cancer, susceptibility to, type 10|CRCS10|susceptibility to colorectal cancer 10|colorectal cancer, susceptibility to, 10|POLD1 colorectal cancer	http://purl.obolibrary.org/obo/MONDO_0012953	https://omim.org/entry/612591	predisposition
MONDO:0012954	biolink:Disease	colorectal cancer, susceptibility to, 11		OMIM:612592	mondo.json	CRCS11|colorectal cancer, susceptibility to, on chromosome 20P|colorectal cancer, susceptibility to, 11	http://purl.obolibrary.org/obo/MONDO_0012954	https://omim.org/entry/612592	predisposition
MONDO:0012951	biolink:Disease	colorectal cancer, susceptibility to, 8		OMIM:612589	mondo.json	CRCS8|colorectal cancer, susceptibility to, 8|colorectal cancer, susceptibility to, on chromosome 14Q	http://purl.obolibrary.org/obo/MONDO_0012951	https://omim.org/entry/612589	predisposition
MONDO:0012952	biolink:Disease	colorectal cancer, susceptibility to, 9		OMIM:612590	mondo.json	CRCS9|colorectal cancer, susceptibility to, 9|colorectal cancer, susceptibility to, on chromosome 16Q	http://purl.obolibrary.org/obo/MONDO_0012952	https://omim.org/entry/612590	predisposition
MONDO:0000979	biolink:Disease	pinta disease	An endemic bacterial infection caused by Treponema carateum. It is manifested with chronic cutaneous lesions. The early lesions consist of papules and erythematous plaques. The late lesions consist of hypochromic, achromic, hyperpigmented and atrophic lesions. The late skin lesions may cause destruction of bones and cartilage and produce disfiguring changes.	UMLS:C0031946|ICD9:103|NCIT:C85011|GARD:0007397|SCTID:22064009|EFO:1001396|ICD9:103.3|DOID:1022|ICD9:103.2|ICD9:103.1|ICD9:103.0|ICD9:103.9|MESH:D010874	mondo.json	endemic treponematosis caused by Treponema carateum|Mal del pinto|Empeines|Azul|Lota|Carate|infection by Treponema carateum|pinta|Tina	http://purl.obolibrary.org/obo/MONDO_0000979	UMLS:C0031946|http://identifiers.org/snomedct/22064009|DOID:1022|NCIT:C85011|http://identifiers.org/mesh/D010874	
IAO:0000589	biolink:NamedThing	OBO foundry unique label	An alternative name for a class or property which is unique across the OBO Foundry.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000589		
MONDO:0000978	biolink:Disease	extrahepatic bile duct lipoma	A rare benign adipose tissue neoplasm of the extrahepatic bile duct.	DOID:10209|UMLS:C1333509|NCIT:C5854	mondo.json	lipoma of the extrahepatic bile duct|lipoma of extrahepatic bile duct|extrahepatic bile duct lipoma	http://purl.obolibrary.org/obo/MONDO_0000978	NCIT:C5854|UMLS:C1333509|DOID:10209	
MONDO:0000977	biolink:Disease	chondroid lipoma	A rare benign adipose tissue neoplasm characterized by nests and cord of abundant univacuolated and multivacuolated lipoblasts and mature adipocytes in a prominent myxoid to hyalinized chondroid matrix admix. It predominantly affects females.	UMLS:C1266131|DOID:10208|SCTID:404065000|NCIT:C6503|ICDO:8862/0	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000977	UMLS:C1266131|NCIT:C6503|DOID:10208|http://identifiers.org/snomedct/404065000	
MONDO:0000976	biolink:Disease	paratesticular lipoma	A rare benign adipose tissue neoplasm of the paratesticular tissues. It is incidentally discovered and presents as a non-tender scrotal mass. It affects patients over a wide age range.	UMLS:C1335348|NCIT:C6384|DOID:10207	mondo.json	paratesticular lipoma	http://purl.obolibrary.org/obo/MONDO_0000976	NCIT:C6384|DOID:10207|UMLS:C1335348	
PO:0025023	biolink:NamedThing	collective phyllome structure	A collective plant organ structure (PO:0025007) that consists of two or more phyllomes (PO:0006001) originating from the same node or from one or more adjacent nodes with compressed shoot internodes (PO:0005005).	PO_GIT:90|PO_GIT:99	mondo.json	floral whorl (narrow)|phyllome whorl (related)|cycle (broad)|estructura colectiva del filoma (Spanish, exact)|whorl (narrow)|verticil (broad)|葉的器官が集まった構造 (Japanese, exact)	http://purl.obolibrary.org/obo/PO_0025023		TraitNet
GO:2000348	biolink:NamedThing	regulation of CD40 signaling pathway	Any process that modulates the frequency, rate or extent of signaling via the CD40 signaling pathway.		mondo.json	regulation of CD40 signalling pathway	http://purl.obolibrary.org/obo/GO_2000348		
GO:2000349	biolink:NamedThing	negative regulation of CD40 signaling pathway	Any process that stops, prevents or reduces the frequency, rate or extent of signaling via the CD40 signaling pathway.		mondo.json	negative regulation of CD40 signalling pathway	http://purl.obolibrary.org/obo/GO_2000349		
CHEBI:28044	biolink:ChemicalSubstance	phenylalanine	An aromatic amino acid that is alanine in which one of the methyl hydrogens is substituted by a phenyl group.		mondo.json	Phenylalanine|phenylalanine|F|fenilalanina|alpha-Amino-beta-phenylpropionic acid|Phenylalanin|2-amino-3-phenylpropanoic acid|DL-Phenylalanine|PHE	http://purl.obolibrary.org/obo/CHEBI_28044		
HP:0001288	biolink:PhenotypicFeature	Gait disturbance	The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.	SNOMEDCT_US:22325002|UMLS:C0575081	mondo.json	Abnormal walk|Gait abnormalities|Abnormal gait|Gait difficulties|Gait disturbances|Impaired gait	http://purl.obolibrary.org/obo/HP_0001288		
HP:0001289	biolink:PhenotypicFeature	Confusion	Lack of clarity and coherence of thought, perception, understanding, or action.	MSH:D003221|SNOMEDCT_US:286933003|UMLS:C0009676	mondo.json	Confusion|Disorientation|Easily confused|Mental disorientation	http://purl.obolibrary.org/obo/HP_0001289		
GO:0016504	biolink:NamedThing	peptidase activator activity	Binds to and increases the activity of a peptidase, any enzyme that catalyzes the hydrolysis peptide bonds.		mondo.json	protease activator activity	http://purl.obolibrary.org/obo/GO_0016504		
GO:0016505	biolink:NamedThing	peptidase activator activity involved in apoptotic process	Binds to and increases the activity of a peptidase that is involved in the apoptotic process.		mondo.json	apoptotic protease activator activity	http://purl.obolibrary.org/obo/GO_0016505		
HP:0001287	biolink:PhenotypicFeature	Meningitis	Inflammation of the meninges.	UMLS:C0025289|MSH:D008581|SNOMEDCT_US:7180009	mondo.json		http://purl.obolibrary.org/obo/HP_0001287		
NCBITaxon:1489388	biolink:OrganismalEntity	Euteleosteomorpha		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1489388		
CHEBI:53000	biolink:ChemicalSubstance	epitope	The biological role played by a material entity when bound by a receptor of the adaptive immune system. Specific site on an antigen to which an antibody binds.		mondo.json	antigenic determinant|epitope function|epitope role	http://purl.obolibrary.org/obo/CHEBI_53000		
CHEBI:65001	biolink:ChemicalSubstance	EC 3.1.1.3 (triacylglycerol lipase) inhibitor	Any EC 3.1.1.* (carboxylic ester hydrolase) inhibitor that inhibits the action of triacylglycerol lipase (EC 3.1.1.3).		mondo.json	pancreatic lipase inhibitor|GEH inhibitor|salt-resistant post-heparin lipase inhibitor|triglyceride hydrolase inhibitor|liver lipase inhibitor|steapsin inhibitors|glycerol-ester hydrolase inhibitors|triolein hydrolase inhibitor|Tweenase inhibitor|cacordase inhibitors|triacylglycerol lipase inhibitors|Tweenase inhibitors|cacordase inhibitor|triacylglycerol lipase inhibitor|glycerol-ester hydrolase inhibitor|tween-hydrolysing esterase inhibitor|triolein hydrolase inhibitors|steapsin inhibitor|GEH inhibitors|triglyceride hydrolase inhibitors|liver lipase inhibitors|salt-resistant post-heparin lipase inhibitors|pancreatic lipase inhibitors|tributyrase inhibitor|butyrinase inhibitor|Tweenesterase inhibitors|hepatic monoacylglycerol acyltransferase inhibitor|tributyrin esterase inhibitors|EC 3.1.1.3 inhibitors|PPL inhibitors|triacylglycerol ester hydrolase inhibitor|glycerol ester hydrolase inhibitor|post-heparin plasma protamine-resistant lipase inhibitors|Tween hydrolase inhibitor|triglyceride lipase inhibitors|capalase L inhibitor|triacetinase inhibitor|tween-hydrolyzing esterase inhibitors|EC 3.1.1.3 (triacylglycerol lipase) inhibitors|pancreatic triacylglycerol lipase inhibitor|heparin releasable hepatic lipase inhibitor|triglyceridase inhibitor|triacylglycerol lipase (EC 3.1.1.3) inhibitors|lipazin inhibitor|hepatic lipase inhibitor|tributyrinase inhibitors|lipase inhibitor|hepatic lipase inhibitors|lipase inhibitors|tributyrinase inhibitor|lipazin inhibitors|pancreatic triacylglycerol lipase inhibitors|heparin releasable hepatic lipase inhibitors|triglyceridase inhibitors|triacylglycerol lipase (EC 3.1.1.3) inhibitor|post-heparin plasma protamine-resistant lipase inhibitor|triglyceride lipase inhibitor|triacetinase inhibitors|Tween hydrolase inhibitors|capalase L inhibitors|triacylglycerol ester hydrolase inhibitors|PPL inhibitor|EC 3.1.1.3 inhibitor|tributyrin esterase inhibitor|glycerol ester hydrolase inhibitors|butyrinase inhibitors|Tweenesterase inhibitor|tributyrase inhibitors|hepatic monoacylglycerol acyltransferase inhibitors	http://purl.obolibrary.org/obo/CHEBI_65001		
GO:2000350	biolink:NamedThing	positive regulation of CD40 signaling pathway	Any process that activates or increases the frequency, rate or extent of signaling via the CD40 signaling pathway.		mondo.json	positive regulation of CD40 signalling pathway	http://purl.obolibrary.org/obo/GO_2000350		
HP:0001297	biolink:PhenotypicFeature	Stroke	Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.	UMLS:C0038454|SNOMEDCT_US:230690007|MSH:D020521	mondo.json	Cerebrovascular accidents|Cerebral vascular events|Cerebrovascular accident|Stroke	http://purl.obolibrary.org/obo/HP_0001297		
HP:0001298	biolink:PhenotypicFeature	Encephalopathy	Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.	MSH:D001927|SNOMEDCT_US:81308009|UMLS:C0085584	mondo.json		http://purl.obolibrary.org/obo/HP_0001298		
PO:0025007	biolink:NamedThing	collective plant organ structure	A collective plant structure (PO:0025497) that is a proper part of a whole plant (PO:0000003), and is composed of two or more adjacent plant organs (PO:0009008) and the associated portions of plant tissue (PO:0009007).	PO_GIT:63	mondo.json	集合植物器官構造 (Japanese, exact)|estructura vegetal colectiva de &#243rgano (Spanish, exact)	http://purl.obolibrary.org/obo/PO_0025007		TraitNet
PO:0025004	biolink:NamedThing	plant axis	An axial plant organ (PO:0009008).		mondo.json	plant axes (exact, plural)|植物軸（軸柱） (Japanese, exact)|eje de la planta (Spanish, exact)	http://purl.obolibrary.org/obo/PO_0025004		TraitNet
CHEBI:16042	biolink:ChemicalSubstance	halide anion	A monoatomic monoanion resulting from the addition of an electron to any halogen atom.		mondo.json	halide(1-)|halides|halide ions|Halide|a halide anion|halide anions|HX|halogen anion	http://purl.obolibrary.org/obo/CHEBI_16042		
CHR:9606-chr2q31.2	biolink:NamedThing	2q31.2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr2q31.2		
CHR:9606-chr2q31.1	biolink:NamedThing	2q31.1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr2q31.1		
CHEBI:28024	biolink:ChemicalSubstance	cyanic acid			mondo.json	hydrogen nitridooxocarbonate|Zyansaeure|[C(N)OH]|Cyanic acid|acido cianico|Cyansaeure|acide cyanique|HOCN|hydroxidonitridocarbon|acidum cyanicum|nitridooxocarbonic acid	http://purl.obolibrary.org/obo/CHEBI_28024		
HP:0025234	biolink:PhenotypicFeature	Parasomnia	An undesirable physical event or experience that occurs during entry into sleep, during sleep, or during arousal from sleep.		mondo.json		http://purl.obolibrary.org/obo/HP_0025234		
HP:0001268	biolink:PhenotypicFeature	Mental deterioration	Loss of previously present mental abilities, generally in adults.	MSH:D060825|UMLS:C0234985	mondo.json	Progressive cognitive decline|Intellectual deterioration|Cognitive decline, progressive|Mental deterioration|Cognitive decline	http://purl.obolibrary.org/obo/HP_0001268		
HP:0001269	biolink:PhenotypicFeature	Hemiparesis	Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.	SNOMEDCT_US:127377003|UMLS:C0018989|MSH:D010291|SNOMEDCT_US:20022000	mondo.json	Weakness of one side of body	http://purl.obolibrary.org/obo/HP_0001269		
HP:0001262	biolink:PhenotypicFeature	Excessive daytime somnolence	A state of abnormally strong desire for sleep during the daytime.	SNOMEDCT_US:79519003|UMLS:C2830004|SNOMEDCT_US:271782001	mondo.json	More than typical sleepiness during day|Excessive daytime sleepiness	http://purl.obolibrary.org/obo/HP_0001262		
HP:0001260	biolink:PhenotypicFeature	Dysarthria	Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.	MSH:D004401|SNOMEDCT_US:8011004|UMLS:C0013362	mondo.json	Difficulty articulating speech|Dysarthric speech	http://purl.obolibrary.org/obo/HP_0001260		
GO:0004509	biolink:NamedThing	steroid 21-monooxygenase activity	Catalysis of the reaction: A C(21) steroid + [reduced NADPH--hemoprotein reductase] + O(2) = a 21-hydroxy-C(21)-steroid + [oxidized NADPH--hemoprotein reductase] + H(2)O.		mondo.json	cytochrome p450 XXIA1 activity|steroid,hydrogen-donor:oxygen oxidoreductase (21-hydroxylating)|cytochrome P450 CYP21A1|steroid 21-hydroxylase activity|21-hydroxylase activity	http://purl.obolibrary.org/obo/GO_0004509		
HP:0001276	biolink:PhenotypicFeature	Hypertonia	A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.	SNOMEDCT_US:41581000|MSH:D009122|SNOMEDCT_US:56731001|UMLS:C0026826	mondo.json	Spasticity and rigidity of muscles|Hypertonicity|Muscle hypertonia|Increased muscle tone	http://purl.obolibrary.org/obo/HP_0001276		
HP:0001279	biolink:PhenotypicFeature	Syncope	Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.	SNOMEDCT_US:272030005|SNOMEDCT_US:271594007|MSH:D013575|UMLS:C0039070|SNOMEDCT_US:309585006	mondo.json	Fainting spell	http://purl.obolibrary.org/obo/HP_0001279		
HP:0001273	biolink:PhenotypicFeature	Abnormal corpus callosum morphology	Abnormality of the corpus callosum.	UMLS:C1842581	mondo.json	Abnormal corpus callosum|Corpus callosum abnormality|Abnormality of the corpus callosum	http://purl.obolibrary.org/obo/HP_0001273		
HGNC:4401	biolink:NamedThing	GNB5			mondo.json		http://identifiers.org/hgnc/4401		
HP:0001274	biolink:PhenotypicFeature	Agenesis of corpus callosum	Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.	Fyler:4321|UMLS:C0175754|SNOMEDCT_US:5102002|MSH:D061085	mondo.json	Absence of corpus callosum|Absent corpus callosum|Callosal agenesis|Dysplastic or absent corpus callosum|Corpus callosum agenesis|Agenesis of the corpus callosum	http://purl.obolibrary.org/obo/HP_0001274		
HGNC:4400	biolink:NamedThing	GNB3			mondo.json		http://identifiers.org/hgnc/4400		
NCBITaxon:451870	biolink:OrganismalEntity	Chaetothyriomycetidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_451870		
NCBITaxon:451871	biolink:OrganismalEntity	Eurotiomycetidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_451871		
UBERON:0006003	biolink:AnatomicalEntity	integumentary adnexa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006003		
UBERON:0006002	biolink:AnatomicalEntity	vitelline artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006002		
HGNC:4416	biolink:NamedThing	GNPAT			mondo.json		http://identifiers.org/hgnc/4416		
CHEBI:16015	biolink:ChemicalSubstance	L-glutamic acid	An optically active form of glutamic acid having L-configuration.		mondo.json	(S)-glutamic acid|GLUTAMIC ACID|glutamic acid|Glutamate|(S)-2-aminopentanedioic acid|acide glutamique|Glu|L-Glu|L-Glutaminic acid|acidum glutamicum|L-glutamic acid|acido glutamico|L-Glutamic acid|L-Glutaminsaeure|(2S)-2-aminopentanedioic acid|E	http://purl.obolibrary.org/obo/CHEBI_16015		
HGNC:4415	biolink:NamedThing	GNMT			mondo.json		http://identifiers.org/hgnc/4415		
UBERON:0006009	biolink:AnatomicalEntity	cusp of cardiac valve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006009		
UBERON:0006008	biolink:AnatomicalEntity	fibrous ring of heart			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006008		
NCBITaxon:451864	biolink:OrganismalEntity	Dikarya		PMID:17572334|PMID:16151185|PMID:17051209|GC_ID:1|PMID:15689432|PMID:17010206	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_451864		
HGNC:4419	biolink:NamedThing	GNRH1			mondo.json		http://identifiers.org/hgnc/4419		
NCBITaxon:451866	biolink:OrganismalEntity	Taphrinomycotina		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_451866		
NCBITaxon:451867	biolink:OrganismalEntity	Dothideomycetidae		GC_ID:1|PMID:17486979	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_451867		
NCBITaxon:451868	biolink:OrganismalEntity	Pleosporomycetidae		GC_ID:1|PMID:17486979	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_451868		
GO:2000310	biolink:NamedThing	regulation of NMDA receptor activity	Any process that modulates the frequency, rate or extent of N-methyl-D-aspartate selective glutamate receptor activity.		mondo.json	regulation of N-methyl-D-aspartate selective glutamate receptor activity	http://purl.obolibrary.org/obo/GO_2000310		
HGNC:4422	biolink:NamedThing	GNS			mondo.json		http://identifiers.org/hgnc/4422		
HGNC:4421	biolink:NamedThing	GNRHR			mondo.json		http://identifiers.org/hgnc/4421		
NCBITaxon:147573	biolink:OrganismalEntity	Piedraia hortae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_147573		
NCBITaxon:147571	biolink:OrganismalEntity	Piedraiaceae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_147571		
NCBITaxon:147572	biolink:OrganismalEntity	Piedraia		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_147572		
HGNC:4428	biolink:NamedThing	GOLGA5			mondo.json		http://identifiers.org/hgnc/4428		
NCBITaxon:206351	biolink:OrganismalEntity	Neisseriales		PMID:23575986|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_206351		
HP:0025278	biolink:PhenotypicFeature	Cold-induced sweating	Sweating provoked by cold temperature rather than by heat.		mondo.json		http://purl.obolibrary.org/obo/HP_0025278		
HP:0025270	biolink:PhenotypicFeature	Abnormal esophagus physiology	Any physiological abnormality of the esophagus.		mondo.json	Abnormality of oesophagus physiology|Functional abnormality of the oesophagus|Abnormality of esophagus physiology|Functional abnormality of the esophagus	http://purl.obolibrary.org/obo/HP_0025270		
HGNC:4431	biolink:NamedThing	GOSR2			mondo.json		http://identifiers.org/hgnc/4431		
HP:0025276	biolink:PhenotypicFeature	Abnormality of skin adnexa physiology	Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.		mondo.json		http://purl.obolibrary.org/obo/HP_0025276		
HGNC:4439	biolink:NamedThing	GP1BA			mondo.json		http://identifiers.org/hgnc/4439		
HGNC:4440	biolink:NamedThing	GP1BB			mondo.json		http://identifiers.org/hgnc/4440		
NCBITaxon:147553	biolink:OrganismalEntity	Pneumocystidomycetes		GC_ID:1	mondo.json	Archiascomycota	http://purl.obolibrary.org/obo/NCBITaxon_147553		
PO:0025029	biolink:NamedThing	shoot axis	A plant axis (PO:0025004) that is part of a shoot system (PO:0009006).		mondo.json	caullome (exact)|shoot (related)|eje del epiblasto (epiblastema) (Spanish, exact)|シュート軸 (Japanese, exact)	http://purl.obolibrary.org/obo/PO_0025029		Poaceae|TraitNet|Arabidopsis|Maize|Angiosperm|Rice
HGNC:4446	biolink:NamedThing	GPAA1			mondo.json		http://identifiers.org/hgnc/4446		
HGNC:4444	biolink:NamedThing	GP9			mondo.json		http://identifiers.org/hgnc/4444		
NCBITaxon:147550	biolink:OrganismalEntity	Sordariomycetes		GC_ID:1	mondo.json	Pyrenomycetes	http://purl.obolibrary.org/obo/NCBITaxon_147550		
CHR:9606-chr15q25	biolink:NamedThing	15q25 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr15q25		
CHR:9606-chr15q24	biolink:NamedThing	15q24 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr15q24		
MONDO:0700129	biolink:Disease	mosaic translocation Down syndrome	Translocation Down syndrome in which the extra (partial or total) copy of chromosome 21 attached to another chromosome is present in some of the cells of the organism.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700129		
MONDO:0700128	biolink:Disease	translocation Down syndrome	Down syndrome in which the extra (partial or total) copy of chromosome 21 genetic material is attached to another chromosome.		mondo.json	Robertsonian Translocation Trisomy 21	http://purl.obolibrary.org/obo/MONDO_0700128		
MONDO:0700125	biolink:Disease	chromosome 18 disorder	Chromosomal disorder in which chromosome 18 is affected.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700125		
MONDO:0700124	biolink:Disease	chromosome 21 disorder	Chromosomal disorder in which chromosome 21 is affected.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700124		
NCBITaxon:147545	biolink:OrganismalEntity	Eurotiomycetes		GC_ID:1	mondo.json	Plectomycetes|Loculoascomycetes|bitunicate ascomycetes	http://purl.obolibrary.org/obo/NCBITaxon_147545		
MONDO:0700127	biolink:Disease	mosaic trisomy 21	Trisomy 21 characterized by the presence of an extra chromosome 21 in some of the cells of the organism.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700127		
MONDO:0700126	biolink:Disease	trisomy 21	A chromosomal disorder consisting of the presence of an extra chromosome 21.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700126		
MONDO:0700121	biolink:Disease	ACTL6A-related BAFopathy	Any BAFopathy in which the cause of the disease is a mutation in the ACTL6A gene.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700121		
MONDO:0700120	biolink:Disease	BAFopathy	Disorder caused by mutations in the various subunits composing the BAF complex.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700120		
MONDO:0700123	biolink:Disease	SMARCC1-related BAFopathy	Any BAFopathy in which the cause of the disease is a mutation in the SMARCC1 gene.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700123		
FOODON:03510136	biolink:NamedThing	food consumer group	A food consumer group is a class of organism based on their heterotrophic requirements or preferences.		mondo.json		http://purl.obolibrary.org/obo/FOODON_03510136		
MONDO:0700122	biolink:Disease	PBRM1-related BAFopathy	Any BAFopathy in which the cause of the disease is a mutation in the PBRM1 gene.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700122		
MONDO:0700130	biolink:Disease	partial segmental duplication	A chromosomal disorder consisting of the partial duplication of chromosome 21.		mondo.json	partial trisomy 21|segmental duplication	http://purl.obolibrary.org/obo/MONDO_0700130		
NCBITaxon:147541	biolink:OrganismalEntity	Dothideomycetes		GC_ID:1	mondo.json	Loculoascomycetes|bitunicate ascomycetes	http://purl.obolibrary.org/obo/NCBITaxon_147541		
GO:0016595	biolink:NamedThing	glutamate binding	Binding to glutamate, the anion of 2-aminopentanedioic acid.		mondo.json	glutamic acid binding	http://purl.obolibrary.org/obo/GO_0016595		
GO:0016597	biolink:NamedThing	amino acid binding	Binding to an amino acid, organic acids containing one or more amino substituents.		mondo.json		http://purl.obolibrary.org/obo/GO_0016597		
NCBITaxon:147537	biolink:OrganismalEntity	Saccharomycotina		GC_ID:1	mondo.json	true yeasts	http://purl.obolibrary.org/obo/NCBITaxon_147537		
NCBITaxon:147538	biolink:OrganismalEntity	Pezizomycotina		GC_ID:1	mondo.json	filamentous ascomycetes|Euascomycota	http://purl.obolibrary.org/obo/NCBITaxon_147538		
MONDO:0700107	biolink:Disease	chromosome 19q13.11 deletion syndrome, distal	Chromosome 19q13.11 deletion syndrome in which the distal region was deleted.	OMIM:613026	mondo.json		http://purl.obolibrary.org/obo/MONDO_0700107	https://omim.org/entry/613026	
MONDO:0700106	biolink:Disease	immune system disorder, non-human animal			mondo.json		http://purl.obolibrary.org/obo/MONDO_0700106		
MONDO:0700109	biolink:Disease	skin disease caused by bacterial infection, non-human animal			mondo.json		http://purl.obolibrary.org/obo/MONDO_0700109		
MONDO:0700108	biolink:Disease	prion disease, non-human animal			mondo.json		http://purl.obolibrary.org/obo/MONDO_0700108		
MONDO:0700103	biolink:Disease	nutritional deficiency disease, non-human animal			mondo.json		http://purl.obolibrary.org/obo/MONDO_0700103		
MONDO:0700102	biolink:Disease	lymphoma, non-human animal			mondo.json		http://purl.obolibrary.org/obo/MONDO_0700102		
MONDO:0700105	biolink:Disease	difference of sexual differentiation, non-human animal			mondo.json		http://purl.obolibrary.org/obo/MONDO_0700105		
MONDO:0700104	biolink:Disease	respiratory system disorder, non-human animal			mondo.json		http://purl.obolibrary.org/obo/MONDO_0700104		
MONDO:0700101	biolink:Disease	carcinoma, non-human animal			mondo.json		http://purl.obolibrary.org/obo/MONDO_0700101		
MONDO:0700100	biolink:Disease	leukemia, non-human animal			mondo.json		http://purl.obolibrary.org/obo/MONDO_0700100		
MONDO:0022397	biolink:Disease	retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene		Orphanet:156168	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022397	Orphanet:156168	disease_grouping|ordo_group_of_disorders
MONDO:0022398	biolink:Disease	aglossia and situs inversus	A disease characterized by complete absence of tongue that can also be associated with limb deformities, syndromes and aberrant positioning of the visceral organs.	GARD:0009211	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022398		gard_rare
MONDO:0022399	biolink:Disease	retinal ciliopathy due to mutation in the RPGR gene		Orphanet:156171	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022399	Orphanet:156171	ordo_group_of_disorders|disease_grouping
MONDO:0022394	biolink:Disease	cervical intraepithelial neoplasia		UMLS:C0206708|MEDGEN:60214|SCTID:285636001|GARD:0009244	mondo.json	Cervical Intraepithelial Neoplasms|NEOPL CERVICAL INTRAEPITHELIAL|Neoplasm, Cervical Intraepithelial|Cervix Intraepithelial Neoplasia|Intraepithelial Neoplasm, Cervical|Cervical intraepithelial neoplasia|Cervix Uteri Intraepithelial Neoplasia|Uterine Cervix Intraepithelial Neoplasia|Intraepithelial Neoplasia of Cervix|Cervical Intraepithelial Neoplasia|Intraepithelial Neoplasia, Cervical|Neoplasia, Cervical Intraepithelial|Intraepithelial Neoplasia of the Cervix|Intraepithelial Neoplasia of Cervix Uteri|Neoplasms, Cervical Intraepithelial|Intraepithelial Neoplasms, Cervical|Cervical Intraepithelial Neoplasm|Intraepithelial Neoplasia of the Cervix Uteri|Intraepithelial Neoplasia of Uterine Cervix|Intraepithelial Neoplasia of the Uterine Cervix|Cervical Dysplasia	http://purl.obolibrary.org/obo/MONDO_0022394	http://identifiers.org/snomedct/285636001|UMLS:C0206708	gard_rare
CHR:9606-chr15q11	biolink:NamedThing	15q11 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr15q11		
CHR:9606-chr15q14	biolink:NamedThing	15q14 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr15q14		
CHR:9606-chr15q13	biolink:NamedThing	15q13 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr15q13		
MONDO:0700118	biolink:Disease	proximal chromosome 18q deletion syndrome	Chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material from the part of the long (q) arm near the center of chromosome 18.	GARD:0010866	mondo.json	proximal 18q deletion|proximal 18q-|proximal 18q deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0700118		
MONDO:0700119	biolink:Disease	distal chromosome 18q deletion syndrome	Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18.	GARD:0010865	mondo.json	distal 18q deletion|distal 18q-|distal 18q deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0700119		
MONDO:0700110	biolink:Disease	pneumonia, non-human animal			mondo.json		http://purl.obolibrary.org/obo/MONDO_0700110		
MONDO:0700111	biolink:Disease	bacterial pneumonia, non-human animal			mondo.json		http://purl.obolibrary.org/obo/MONDO_0700111		
GO:0004565	biolink:NamedThing	beta-galactosidase activity	Catalysis of the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-D-galactosides.		mondo.json	exo-(1->4)-beta-D-galactanase activity|beta-D-galactanase activity|beta-lactosidase activity|beta-D-galactoside galactohydrolase activity|beta-D-lactosidase activity|hydrolact	http://purl.obolibrary.org/obo/GO_0004565		
GO:0004566	biolink:NamedThing	beta-glucuronidase activity	Catalysis of the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate.		mondo.json	ketodase activity|exo-beta-D-glucuronidase activity|beta-glucuronide glucuronohydrolase activity|glucuronidase activity|beta-D-glucuronoside glucuronosohydrolase activity	http://purl.obolibrary.org/obo/GO_0004566		
GO:0004561	biolink:NamedThing	alpha-N-acetylglucosaminidase activity	Catalysis of the hydrolysis of terminal non-reducing N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides.		mondo.json	N-acetyl-alpha-D-glucosaminidase activity|NAG activity|alpha-N-acetyl-D-glucosaminide N-acetylglucosaminohydrolase activity|alpha-D-2-acetamido-2-deoxyglucosidase activity|N-acetyl-alpha-glucosaminidase activity|alpha-acetylglucosaminidase activity	http://purl.obolibrary.org/obo/GO_0004561		
GO:0004563	biolink:NamedThing	beta-N-acetylhexosaminidase activity	Catalysis of the hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.		mondo.json	N-acetyl-beta-glucosaminidase activity|beta-N-acetyl-D-hexosaminidase activity|beta-D-hexosaminidase activity|beta-D-N-acetylhexosaminidase activity|beta-acetylhexosaminidinase activity|N-acetyl-beta-D-hexosaminidase activity|beta-hexosaminidase activity|beta-N-acetyl-D-hexosaminide N-acetylhexosaminohydrolase activity|hexosaminidase A|N-acetyl-beta-hexosaminidase activity|beta-acetylaminodeoxyhexosidase activity|N-acetylhexosaminidase activity	http://purl.obolibrary.org/obo/GO_0004563		
GO:2000382	biolink:NamedThing	positive regulation of mesoderm development	Any process that activates or increases the frequency, rate or extent of mesoderm development.		mondo.json		http://purl.obolibrary.org/obo/GO_2000382		
GO:2000383	biolink:NamedThing	regulation of ectoderm development	Any process that modulates the frequency, rate or extent of ectoderm development.		mondo.json		http://purl.obolibrary.org/obo/GO_2000383		
GO:2000384	biolink:NamedThing	negative regulation of ectoderm development	Any process that stops, prevents or reduces the frequency, rate or extent of ectoderm development.		mondo.json		http://purl.obolibrary.org/obo/GO_2000384		
GO:2000385	biolink:NamedThing	positive regulation of ectoderm development	Any process that activates or increases the frequency, rate or extent of ectoderm development.		mondo.json		http://purl.obolibrary.org/obo/GO_2000385		
HP:0001249	biolink:PhenotypicFeature	Intellectual disability	Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.	UMLS:C4020876|UMLS:C0025362|MSH:D008607|UMLS:C0423903|SNOMEDCT_US:91138005|SNOMEDCT_US:247578003|UMLS:C3714756|SNOMEDCT_US:228156007|UMLS:C1843367|UMLS:C0917816	mondo.json	Mental deficiency|Mental-retardation|Mental retardation, nonspecific|Poor school performance|Mental retardation|Intellectual disability|Low intelligence|Nonprogressive mental retardation|Nonprogressive intellectual disability|Dull intelligence	http://purl.obolibrary.org/obo/HP_0001249		
NCBITaxon:1489341	biolink:OrganismalEntity	Osteoglossocephalai		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1489341		
GO:2000380	biolink:NamedThing	regulation of mesoderm development	Any process that modulates the frequency, rate or extent of mesoderm development.		mondo.json		http://purl.obolibrary.org/obo/GO_2000380		
GO:2000381	biolink:NamedThing	negative regulation of mesoderm development	Any process that stops, prevents or reduces the frequency, rate or extent of mesoderm development.		mondo.json		http://purl.obolibrary.org/obo/GO_2000381		
HGNC:23594	biolink:NamedThing	VPS13C			mondo.json		http://identifiers.org/hgnc/23594		
HP:0001254	biolink:PhenotypicFeature	Lethargy	A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.	MSH:D053609|SNOMEDCT_US:214264003|UMLS:C0023380	mondo.json	Lethargy	http://purl.obolibrary.org/obo/HP_0001254		
HP:0001259	biolink:PhenotypicFeature	Coma	Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli.	ICD-10:R40.2|UMLS:C0009421|MSH:D003128|SNOMEDCT_US:371632003	mondo.json	Coma	http://purl.obolibrary.org/obo/HP_0001259		
HP:0001257	biolink:PhenotypicFeature	Spasticity	A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.	UMLS:C0026838|SNOMEDCT_US:397790002|MSH:D009128|SNOMEDCT_US:221360009	mondo.json	Muscular spasticity|Muscle spasticity|Involuntary muscle stiffness, contraction, or spasm	http://purl.obolibrary.org/obo/HP_0001257		
HP:0001251	biolink:PhenotypicFeature	Ataxia	Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).	UMLS:C0007758|SNOMEDCT_US:85102008|MSH:D002524	mondo.json	Cerebellar ataxia	http://purl.obolibrary.org/obo/HP_0001251		
HP:0001252	biolink:PhenotypicFeature	Hypotonia	Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.	SNOMEDCT_US:398152000|SNOMEDCT_US:398151007|MSH:D009123|UMLS:C0026827	mondo.json	Peripheral hypotonia|Low muscle tone|Muscle hypotonia|Muscular hypotonia|Central hypotonia|Low or weak muscle tone	http://purl.obolibrary.org/obo/HP_0001252		
HP:0001250	biolink:PhenotypicFeature	Seizure	A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.	SNOMEDCT_US:91175000|MSH:D012640|SNOMEDCT_US:128613002|SNOMEDCT_US:246545002|UMLS:C0014544|SNOMEDCT_US:313307000|UMLS:C0036572|MSH:D004827|SNOMEDCT_US:84757009	mondo.json	Epileptic seizure|Seizures|Epilepsy	http://purl.obolibrary.org/obo/HP_0001250		
HGNC:23564	biolink:NamedThing	MIR17HG			mondo.json		http://identifiers.org/hgnc/23564		
GO:0016525	biolink:NamedThing	negative regulation of angiogenesis	Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis.		mondo.json	downregulation of angiogenesis|down regulation of angiogenesis|inhibition of angiogenesis|down-regulation of angiogenesis	http://purl.obolibrary.org/obo/GO_0016525		
HGNC:11588	biolink:NamedThing	TBP			mondo.json		http://identifiers.org/hgnc/11588		
HGNC:11584	biolink:NamedThing	TBK1			mondo.json		http://identifiers.org/hgnc/11584		
HGNC:11582	biolink:NamedThing	TBCE			mondo.json		http://identifiers.org/hgnc/11582		
HGNC:11581	biolink:NamedThing	TBCD			mondo.json		http://identifiers.org/hgnc/11581		
GO:0004557	biolink:NamedThing	alpha-galactosidase activity	Catalysis of the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides, including galactose oligosaccharides, galactomannans and galactohydrolase.		mondo.json	alpha-D-galactoside galactohydrolase activity|alpha-D-galactosidase activity|alpha-galactoside galactohydrolase activity|melibiase activity|alpha-galactosidase A	http://purl.obolibrary.org/obo/GO_0004557		
GO:0004559	biolink:NamedThing	alpha-mannosidase activity	Catalysis of the hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides.		mondo.json	1,2-alpha-mannosidase|exo-alpha-mannosidase activity|alpha-D-mannopyranosidase activity|alpha-D-mannoside mannohydrolase activity|p-nitrophenyl-alpha-mannosidase activity|1,2-alpha-D-mannosidase activity|alpha-D-mannosidase activity	http://purl.obolibrary.org/obo/GO_0004559		
GO:0004553	biolink:NamedThing	hydrolase activity, hydrolyzing O-glycosyl compounds	Catalysis of the hydrolysis of any O-glycosyl bond.		mondo.json	O-glucosyl hydrolase activity	http://purl.obolibrary.org/obo/GO_0004553		
GO:0004555	biolink:NamedThing	alpha,alpha-trehalase activity	Catalysis of the reaction: alpha,alpha-trehalose + H2O = 2 D-glucose.		mondo.json	alpha,alpha-trehalose glucohydrolase activity	http://purl.obolibrary.org/obo/GO_0004555		
HGNC:23573	biolink:NamedThing	MORC2			mondo.json		http://identifiers.org/hgnc/23573		
HGNC:11599	biolink:NamedThing	TBX21			mondo.json		http://identifiers.org/hgnc/11599		
HGNC:11598	biolink:NamedThing	TBX20			mondo.json		http://identifiers.org/hgnc/11598		
HP:0001231	biolink:PhenotypicFeature	Abnormal fingernail morphology	An abnormality of the fingernails.	UMLS:C4021782	mondo.json	Abnormal fingernails|Abnormality of the fingernails	http://purl.obolibrary.org/obo/HP_0001231		
HGNC:11596	biolink:NamedThing	TBX19			mondo.json		http://identifiers.org/hgnc/11596		
HGNC:11595	biolink:NamedThing	TBX18			mondo.json		http://identifiers.org/hgnc/11595		
HGNC:11594	biolink:NamedThing	TBX15			mondo.json		http://identifiers.org/hgnc/11594		
HGNC:11592	biolink:NamedThing	TBX1			mondo.json		http://identifiers.org/hgnc/11592		
MONDO:0022220	biolink:Disease	Parinaud syndrome	A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier's sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause.	NCIT:C54102|UMLS:C0152222|MEDGEN:57754|SCTID:37991008	mondo.json	Parinaud's syndrome|Parinaud's ophthalmoplegia|syndrome, Parinaud|Parinaud syndrome|paralysis of vertical movement|syndrome, Parinaud's|dorsal midbrain syndrome|vertical gaze palsy - Parinaud|Parinauds syndrome	http://purl.obolibrary.org/obo/MONDO_0022220	http://identifiers.org/snomedct/37991008|NCIT:C54102|UMLS:C0152222	
MONDO:0024883	biolink:Disease	metastatic neoplasm	A tumor that has spread from its original (primary) site of growth to another site, close to or distant from the primary site. Metastasis is characteristic of advanced malignancies, but in rare instances can be seen in neoplasms lacking malignant morphology.	ICDO:8000/6|NCIT:C3261	mondo.json	metastatic neoplasm|metastatic tumor|metastatic disease	http://purl.obolibrary.org/obo/MONDO_0024883	NCIT:C3261	
MONDO:0024882	biolink:Disease	secondary neoplasm	A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.	NCIT:C36255	mondo.json	secondary neoplasm|secondary tumor	http://purl.obolibrary.org/obo/MONDO_0024882	NCIT:C36255	
MONDO:0024885	biolink:Disease	malignant ovarian serous tumor	An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. It includes serous adenocarcinoma and serous adenocarcinofibroma.	NCIT:C40025	mondo.json	ovarian serous tumor, malignant|malignant ovarian serous tumor	http://purl.obolibrary.org/obo/MONDO_0024885	NCIT:C40025	
HGNC:23663	biolink:NamedThing	VKORC1			mondo.json		http://identifiers.org/hgnc/23663		
MONDO:0024884	biolink:Disease	metastatic carcinoma in the bone	A carcinoma that has spread to the bone from another, primary anatomic site. Bone is one of the most frequent sites of metastatic carcinoma. Common sites of origin include lung, breast, and prostate.	NCIT:C36082|UMLS:C0700110	mondo.json	metastatic carcinoma in the bone|metastatic carcinoma to the bone	http://purl.obolibrary.org/obo/MONDO_0024884	UMLS:C0700110|NCIT:C36082	
NCBITaxon:279271	biolink:OrganismalEntity	Leptotrombidium		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_279271		
MONDO:0024886	biolink:Disease	serous adenofibroma	A benign adenofibroma characterized by the presence of serous secretory cells and minute cystic spaces filled with watery fluid. A representative example is the ovarian serous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline serous adenofibromas and have a low grade malignant potential.	NCIT:C67090|ICDO:9014/0|UMLS:C0334498	mondo.json	serous adenofibroma	http://purl.obolibrary.org/obo/MONDO_0024886	NCIT:C67090|UMLS:C0334498	
MONDO:0024889	biolink:Disease	benign mesonephroma	A benign epithelial neoplasm of the female reproductive system arising from mesonephric remnants.	ICDO:9110/0|NCIT:C4294|UMLS:C0334530|DOID:2616	mondo.json	mesonephric neoplasm, benign|benign mesonephric neoplasm|mesonephric adenoma|Mesonephroma, benign (morphologic abnormality)|mesonephric duct adenoma|Mesonephroma, benign|benign Mesonephroma|Wolffian duct adenoma	http://purl.obolibrary.org/obo/MONDO_0024889	DOID:2616|NCIT:C4294|UMLS:C0334530	
MONDO:0024888	biolink:Disease	mesonephric neoplasm	An epithelial neoplasm of the female reproductive system arising from mesonephric remnants.	ICDO:9110/1|NCIT:C4295	mondo.json	neoplasm of mesonephric duct|mesonephric duct tumor|mesonephric tumor|Wolffian duct neoplasm|tumor of mesonephric duct|mesonephroma|mesonephric duct neoplasm|Wolffian duct tumor|mesonephric neoplasm	http://purl.obolibrary.org/obo/MONDO_0024888	NCIT:C4295	
MONDO:0010239	biolink:Disease	lissencephaly type 1 due to doublecortin gene mutation	Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients.	Orphanet:2148|UMLS:C4275012|OMIM:300067|UMLS:C1848199|SCTID:715780008|GARD:0006914	mondo.json	LISX|lissencephaly and agenesis of corpus callosum|lissencephaly, X-linked|lissencephaly type 1 due to doublecortin gene mutation|lissencephaly, X-linked, 1|lissencephaly, X-linked, type 1|subcortical band heterotopia, X-linked|subcortical laminal heterotopia, X-linked|subcortical laminar heterotopia, X-linked,|subcortical laminar heterotopia, X-linked|X-linked lissencephaly type 1|XLIS|Dc syndrome|Double cortex syndrome|LISX1|lissencephaly X-linked|Xlis|X-linked lissencephaly	http://purl.obolibrary.org/obo/MONDO_0010239	https://omim.org/entry/300067|UMLS:C1848199|UMLS:C4275012|http://identifiers.org/snomedct/715780008|Orphanet:2148	gard_rare|ordo_disease
MONDO:0009249	biolink:Disease	hereditary fructose intolerance	Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.	SCTID:20052008|ICD10CM:E74.12|ICD9:271.2|DOID:9869|NCIT:C84720|OMIM:229600|MedDRA:10019878|GARD:0006622|UMLS:C0016751|Orphanet:469	mondo.json	fructose intolerance, hereditary|aldolase B deficiency|fructose intolerance|fructose-1,6-bisphosphate aldolase B deficiency|fructose-1-phosphate aldolase deficiency|Fructosaemia|hereditary fructose-1-phosphate aldolase deficiency|fructosemia|hereditary fructose intolerance|Aldob deficiency|hereditary fructosemia|hereditary fructose intolerance syndrome	http://purl.obolibrary.org/obo/MONDO_0009249	http://purl.bioontology.org/ontology/ICD10CM/E74.12|http://identifiers.org/snomedct/20052008|Orphanet:469|NCIT:C84720|DOID:9869|https://omim.org/entry/229600|UMLS:C0016751	ordo_disease
MONDO:0010238	biolink:Disease	hearing loss, X-linked 4	Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene.	DOID:0111735|UMLS:C1848204|MESH:C564723|OMIM:300066	mondo.json	DFNX4|deafness, X-linked 4, X-linked dominant|deafness, X-linked 6, progressive|SMPX X-linked nonsyndromic deafness|X-linked nonsyndromic deafness caused by mutation in SMPX|deafness, X-linked type 4|deafness, nonsyndromic sensorineural progressive 6|deafness, X-linked 4	http://purl.obolibrary.org/obo/MONDO_0010238	DOID:0111735|https://omim.org/entry/300066|http://identifiers.org/mesh/C564723|UMLS:C1848204	clingen
MONDO:0009248	biolink:Disease	fructose and galactose intolerance		OMIM:229500|UMLS:C1856686|MESH:C565558	mondo.json	fructose and galactose intolerance	http://purl.obolibrary.org/obo/MONDO_0009248	UMLS:C1856686|http://identifiers.org/mesh/C565558|https://omim.org/entry/229500	
MONDO:0009247	biolink:Disease	frontofacionasal dysplasia	Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).	MESH:C538063|SCTID:716022002|OMIM:229400|UMLS:C2931720|Orphanet:1791|GARD:0002390	mondo.json	Ffnd|fronto-facio-nasal dysostosis|fronto-facio-nasal dyplasia|Gollop syndrome|Frontofacionasal dysostosis|frontofacionasal dysplasia	http://purl.obolibrary.org/obo/MONDO_0009247	Orphanet:1791|UMLS:C2931720|https://omim.org/entry/229400|http://identifiers.org/mesh/C538063|http://identifiers.org/snomedct/716022002	ordo_malformation_syndrome|gard_rare
MONDO:0009246	biolink:Disease	Friedreich ataxia and congenital glaucoma		MESH:C538061|UMLS:C1856688|OMIM:229310	mondo.json	Friedreich ataxia and congenital glaucoma	http://purl.obolibrary.org/obo/MONDO_0009246	UMLS:C1856688|https://omim.org/entry/229310|http://identifiers.org/mesh/C538061	
MONDO:0009245	biolink:Disease	obsolete Friedreich ataxia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009245		
MONDO:0009244	biolink:Disease	Freesia Flowers, inability to smell		OMIM:229250	mondo.json	Freesia Flowers, inability to smell	http://purl.obolibrary.org/obo/MONDO_0009244	https://omim.org/entry/229250	
MONDO:0024881	biolink:Disease	secondary malignant neoplasm	A malignant neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.	ICD9:198.89|ICD9:199.1|SCTID:128462008|NCIT:C4968	mondo.json	secondary malignancy|secondary malignant neoplasm|secondary cancer	http://purl.obolibrary.org/obo/MONDO_0024881	NCIT:C4968|http://identifiers.org/snomedct/128462008	
MONDO:0024880	biolink:Disease	metastatic malignant neoplasm	A malignant tumor that has spread from its original (primary) site of growth to another site close to or distant from the primary site.	NCIT:C36263	mondo.json	metastatic malignant neoplasm|malignant metastatic neoplasm|metastatic neoplasm, malignant|metastatic cancer	http://purl.obolibrary.org/obo/MONDO_0024880	NCIT:C36263	
MONDO:0009243	biolink:Disease	Fraser-like syndrome		MESH:C565562|UMLS:CN200837|Orphanet:2051|OMIM:229230|UMLS:C1856708	mondo.json	Fused eyelids, airway anomalies, ovarian cysts, and digital anomalies|Fraser-like syndrome	http://purl.obolibrary.org/obo/MONDO_0009243	UMLS:CN200837|UMLS:C1856708|http://identifiers.org/mesh/C565562|https://omim.org/entry/229230|Orphanet:2051	
MONDO:0009242	biolink:Disease	brittle cornea syndrome	Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.	Orphanet:90354|MESH:C536198|OMIMPS:229200|DOID:14775|UMLS:C0268342|SCTID:719096006|GARD:0001019	mondo.json	brittle cornea syndrome type 1|Ehlers-Danlos syndrome type 6b|brittle cornea syndrome|type VIB Ehlers-Danlos syndrome|kyphoscoliosis type|brittle cornea syndrome 2|brittle cornea syndrome 1|EDS VIB (formerly)|Ehlers-Danlos syndrome type 6B (formerly)|BCS1	http://purl.obolibrary.org/obo/MONDO_0009242	DOID:14775|https://omim.org/phenotypicSeries/PS229200|http://identifiers.org/snomedct/719096006|Orphanet:90354	ordo_disease|prototype_pattern|gard_rare
MONDO:0010242	biolink:Disease	fetal akinesia syndrome, X-linked		GARD:0002293|MESH:C537921|UMLS:C1848171|OMIM:300073	mondo.json	polyhydramnios, hypokinesia, brain malformations, telecanthus, and narrow palpebral fissures|fetal akinesia syndrome X-linked|fetal akinesia syndrome, X-linked|X-linked form of fetal akinesia syndrome	http://purl.obolibrary.org/obo/MONDO_0010242	http://identifiers.org/mesh/C537921|https://omim.org/entry/300073|UMLS:C1848171	gard_rare
MONDO:0009241	biolink:Disease	fountain syndrome	Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.	SCTID:720957007|GARD:0000064|OMIM:229120|Orphanet:3219|UMLS:C0795944|MESH:C537270	mondo.json	deafness-skeletal dysplasia-coarse face with full lips syndrome|mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips|intellectual disability, deafness, skeletal abnormalities, coarse face with full lips|intellectual disability, sensorineural deafness, skeletal abnormalities, and coarse face with full lips|deafness-skeletal dysplasia-lip granuloma syndrome|deafness, skeletal dysplasia, lip granuloma|fountain syndrome	http://purl.obolibrary.org/obo/MONDO_0009241	UMLS:C0795944|http://identifiers.org/snomedct/720957007|https://omim.org/entry/229120|Orphanet:3219|http://identifiers.org/mesh/C537270	gard_rare|ordo_malformation_syndrome
MONDO:0010241	biolink:Disease	congenital stationary night blindness 2A	Any congenital stationary night blindness in which the cause of the disease is a mutation in the CACNA1F gene.	DOID:0110871|OMIM:300071|UMLS:C1848172	mondo.json	congenital stationary night blindness caused by mutation in CACNA1F|congenital stationary night blindness 2A X-linked|night blindness, congenital stationary (incomplete), 2A, X-linked|night blindness, congenital stationary, type 2|congenital stationary night blindness type 2A|CSNB2A|night blindness, congenital stationary, type 2A|CACNA1F congenital stationary night blindness|CSNB, incomplete, X-linked	http://purl.obolibrary.org/obo/MONDO_0010241	https://omim.org/entry/300071|DOID:0110871|UMLS:C1848172	
MONDO:0010244	biolink:Disease	CGF1		OMIM:300082|UMLS:C1848140	mondo.json	CGF1|social cognition|cognitive function 1, social	http://purl.obolibrary.org/obo/MONDO_0010244	UMLS:C1848140|https://omim.org/entry/300082	
MONDO:0009240	biolink:Disease	formiminoglutamic aciduria	Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia.	ICD9:270.8|SCTID:59761008|UMLS:C0268609|MESH:C537425|DOID:0111679|OMIM:229100|GARD:0009279|Orphanet:51208	mondo.json	formiminotransferase deficiency|formiminotransferase deficiency syndrome|Formiminoglutamicaciduria (FIGLU-Uria)|formiminoglutamic aciduria|glutamate formiminotransferase deficiency|formiminotransferase cyclodeaminase deficiency|Figlu-Uria|Arakawa syndrome 1|FTCD deficiency|formiminoglutamic acidemia	http://purl.obolibrary.org/obo/MONDO_0009240	DOID:0111679|https://omim.org/entry/229100|http://identifiers.org/snomedct/59761008|Orphanet:51208|UMLS:C0268609|http://identifiers.org/mesh/C537425	ordo_disease
MONDO:0010243	biolink:Disease	X-linked immunoneurologic disorder	X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.	SCTID:719827008|Orphanet:2571|OMIM:300076|MESH:C536743|UMLS:C1848144|GARD:0000274	mondo.json	Woods-Black-Norbury syndrome|X-linked immunoneurological disorder|Woods Black Norbury syndrome|immunoneurologic disorder, X-linked|neonatal death immune deficiency|Woods-Black-Norbury syndrome, X-linked dominant	http://purl.obolibrary.org/obo/MONDO_0010243	UMLS:C1848144|http://identifiers.org/snomedct/719827008|Orphanet:2571|http://identifiers.org/mesh/C536743|https://omim.org/entry/300076	ordo_disease
MONDO:0010246	biolink:Disease	developmental and epileptic encephalopathy, 9	Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.	OMIM:300088|GARD:0010806|MESH:C564715|DOID:0060848|UMLS:C1848137|Orphanet:101039	mondo.json	epilepsy and mental retardation limited to females|PCDH19 early infantile epileptic encephalopathy|early infantile epileptic encephalopathy caused by mutation in PCDH19|familial epilepsy and mental retardation limited to females|PCDH19-related FLE|epilepsy, female-restricted, with intellectual disability|early infantile female-limited epilecptic encephalopathy|developmental and epileptic encephalopathy 9|epilepsy, female-restricted, with mental retardation|EFMR|Juberg-Hellman syndrome|Juberg Hellman syndrome|EIEE9|early infantile epileptic encephalopathy 9|DEE9|female restricted epilepsy with intellectual disability|developmental and epileptic encephalopathy, 9|epileptic encephalopathy, early infantile, type 9|early infantile epileptic encephalopathy type 9|female restricted epilepsy with mental retardation|epilepsy and intellectual disability limited to females|PCDH19-related infantile epileptic encephalopathy|familial epilepsy and intellectual disability limited to females|female restricted epilepsy with intellectual deficit|epilepsy, female restricted, with mental retardation|epileptic encephalopathy, early infantile, 9|PCDH19-related female-limited epilepsy|epilepsy, female restricted, with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010246	http://identifiers.org/mesh/C564715|UMLS:C1848137|Orphanet:101039|DOID:0060848|https://omim.org/entry/300088	ordo_disease
MONDO:0010245	biolink:Disease	X-linked cone-rod dystrophy 2		DOID:0111006|GARD:0001462|MESH:C564717|Orphanet:1871|OMIM:300085	mondo.json	cone-rod dystrophy, X-linked, 2|CORDX2|cone-rod dystrophy X-linked 2|X-linked cone dystrophy 2|cone dystrophy 2, X-linked|COD2|X-linked cone-rod dystrophy type 2|cone dystrophy X-linked 2|cone dystrophy, progressive X-linked, 2	http://purl.obolibrary.org/obo/MONDO_0010245	DOID:0111006|http://identifiers.org/mesh/C564717|https://omim.org/entry/300085	gard_rare
MONDO:0010248	biolink:Disease	X-linked spondyloepimetaphyseal dysplasia	X-linked form of spondyloepimetaphyseal dysplasia.	Orphanet:93349|MESH:C564714|OMIM:300106|UMLS:C1848097|GARD:0004979	mondo.json	spondylo-epimetaphyseal dysplasia|SEMD, X-linked|SEMD X-linked|SEMDX|spondyloepimetaphyseal dysplasia X-linked|spondyloepimetaphyseal dysplasia, X-linked, X-linked recessive|spondyloepimetaphyseal dysplasia, X-linked	http://purl.obolibrary.org/obo/MONDO_0010248	http://identifiers.org/mesh/C564714|https://omim.org/entry/300106|UMLS:C1848097|Orphanet:93349	gard_rare|ordo_disease
MONDO:0010247	biolink:Disease	X-linked cerebral adrenoleukodystrophy	A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.	Orphanet:139396|GARD:0009412|UMLS:CN199389|UMLS:CN036464	mondo.json	adrenoleukodystrophy X-linked cerebral form|X-linked cerebral adrenoleukodystrophy|childhood-onset cerebral X-linked adrenoleukodystrophy|adrenoleukodystrophy|adrenomyeloneuropathy|ALD childhood cerebral form|Addison disease and cerebral sclerosis|melanodermic leukodystrophy|adrenoleukodystrophy childhood cerebral form|childhood cerebral ALD|ALD|Siemerling-Creutzfeldt disease|bronze Schilder disease	http://purl.obolibrary.org/obo/MONDO_0010247	UMLS:CN036464|Orphanet:139396|UMLS:CN199389	gard_rare|ordo_clinical_subtype
MONDO:0034217	biolink:Disease	resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta		Orphanet:566243	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034217	Orphanet:566243	ordo_disease
MONDO:0024879	biolink:Disease	metastatic carcinoma	A carcinoma which has spread from the original site of growth to another anatomic site.	NCIT:C3482|UMLS:C1384494|ICDO:8010/6	mondo.json	metastatic carcinoma	http://purl.obolibrary.org/obo/MONDO_0024879	UMLS:C1384494|NCIT:C3482	
MONDO:0034216	biolink:Disease	resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha		Orphanet:566231	mondo.json	resistance to thyroid hormone alpha	http://purl.obolibrary.org/obo/MONDO_0034216	Orphanet:566231	ordo_disease
MONDO:0034212	biolink:Disease	methotrexate toxicity		Orphanet:565782	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034212	Orphanet:565782	ordo_disease
MONDO:0036870	biolink:Disease	lymphatic vessel neoplasm	A benign or malignant neoplasm arising from the lymphatic vessels.	NCIT:C3723|UMLS:C0206619	mondo.json	tumor of lymphatic vessel|neoplasm of the lymphatic vessel|neoplasm of lymph vessel|lymph vessel tumor|neoplasm of the lymph vessel|neoplasm of lymphatic vessel|lymph vessel neoplasm|lymphatic vessel tumor|tumor of the lymphatic vessel|lymphatic vessel neoplasm|tumor of lymph vessel|tumor of the lymph vessel	http://purl.obolibrary.org/obo/MONDO_0036870	NCIT:C3723|UMLS:C0206619	
MONDO:0010240	biolink:Disease	obsolete androgen insensitivity syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010240		
HGNC:21014	biolink:NamedThing	ANTXR1			mondo.json		http://identifiers.org/hgnc/21014		
MONDO:0024873	biolink:Disease	clitoral carcinoma	A carcinoma that arises from the clitoris.	UMLS:C1333070|NCIT:C9362	mondo.json	carcinoma of clitoris|carcinoma of the clitoris|clitoral cancer|clitoral carcinoma|clitoris carcinoma	http://purl.obolibrary.org/obo/MONDO_0024873	UMLS:C1333070|NCIT:C9362	
MONDO:0024876	biolink:Disease	tendon sheath disorder	A disease that involves the tendon sheath.	UMLS:C0729734|ICD9:727.9|SCTID:312381009	mondo.json	disease or disorder of tendon sheath|tendon sheath disease or disorder|tendon sheath disease|disease of tendon sheath|disorder of tendon sheath|tendon sheath disorder	http://purl.obolibrary.org/obo/MONDO_0024876	http://identifiers.org/snomedct/312381009|UMLS:C0729734	
GO:0099023	biolink:NamedThing	vesicle tethering complex	Any protein complex that plays a role in vesicle tethering.		mondo.json		http://purl.obolibrary.org/obo/GO_0099023		
GO:0099024	biolink:NamedThing	plasma membrane invagination	An infolding of the plasma membrane.		mondo.json		http://purl.obolibrary.org/obo/GO_0099024		
MONDO:0024878	biolink:Disease	secondary carcinoma	A carcinoma that arises from a pre-existing lower grade epithelial lesion, or as a result of a primary carcinoma that has spread to secondary sites, or due to a complication of a cancer treatment.	UMLS:C0085668|NCIT:C36310	mondo.json	secondary carcinoma	http://purl.obolibrary.org/obo/MONDO_0024878	NCIT:C36310|UMLS:C0085668	
MONDO:0024877	biolink:Disease	clitoris neoplasm	A neoplasm involving a clitoris.	ICD9:239.5|UMLS:C1263793|SCTID:126925009	mondo.json	tumor of clitoris|clitoral neoplasm|neoplasm of clitoris|clitoris tumor	http://purl.obolibrary.org/obo/MONDO_0024877	UMLS:C1263793|http://identifiers.org/snomedct/126925009	
MONDO:0010228	biolink:Disease	hearing loss, X-linked 3		DOID:0111736|OMIM:300030|MESH:C564727|GARD:0001707	mondo.json	deafness, X-linked 4, congenital sensorineural|deafness, X-linked 3|DFNX3|deafness X-linked, DFN3	http://purl.obolibrary.org/obo/MONDO_0010228	DOID:0111736|https://omim.org/entry/300030|http://identifiers.org/mesh/C564727	gard_rare
MONDO:0010227	biolink:Disease	retinitis pigmentosa 3	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene.	MESH:C564520|DOID:0110414|ICD10CM:H35.5|GARD:0010381|OMIM:300029|UMLS:C1845667	mondo.json	retinitis pigmentosa 15|cone-rod Degeneration, X-linked|retinitis pigmentosa type 3|retinitis pigmentosa caused by mutation in RPGR|retinitis pigmentosa 3|RPGR retinitis pigmentosa|Choroidoretinal Degeneration with retinal reflex in heterozygous Women|RP3	http://purl.obolibrary.org/obo/MONDO_0010227	http://identifiers.org/mesh/C564520|DOID:0110414|https://omim.org/entry/300029|UMLS:C1845667	
MONDO:0009259	biolink:Disease	gamma-glutamylcysteine synthetase deficiency	Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.	OMIM:230450|Orphanet:33574|ICD9:270.8|SCTID:36799008|DOID:0111681|MESH:C565557	mondo.json	glutamate-cysteine ligase deficiency|hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency|inborn glutamate-cysteine ligase activity disorder|inborn error of glutamate-cysteine ligase activity|rare inborn error of glutamate-cysteine ligase activity|gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to	http://purl.obolibrary.org/obo/MONDO_0009259	https://omim.org/entry/230450|DOID:0111681|http://identifiers.org/mesh/C565557|http://identifiers.org/snomedct/36799008|Orphanet:33574	ordo_disease
MONDO:0012889	biolink:Disease	sarcoidosis, susceptibility to, 3		OMIM:612388	mondo.json	SS3|sarcoidosis, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0012889	https://omim.org/entry/612388	predisposition
MONDO:0010229	biolink:Disease	alopecia, congenital	A congenital condition characterized by the absence of hair on the scalp or entire body. The lack of hair is rarely absolute and is usually accompanied by incompletely grown, lanugo-like hair. It affects males twice as much as females and a familial tendency is common.	SCTID:2965006|NCIT:C35790|OMIM:300042|MESH:C535981	mondo.json	congenital alopecia|alopecia, congenital|ALPC	http://purl.obolibrary.org/obo/MONDO_0010229	NCIT:C35790|https://omim.org/entry/300042|http://identifiers.org/mesh/C535981|http://identifiers.org/snomedct/2965006	
MONDO:0009258	biolink:Disease	classic galactosemia	Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.	Orphanet:79239|SCTID:10899004|DOID:0111459|OMIM:230400	mondo.json	galactosemia, Duarte variant|galactosemia, classic|galactose-1-phosphate uridylyltransferase deficiency|Galt deficiency|galactosemia type 1|GALT deficiency|galactosemia|galactose-1-phosphate uridyltransferase deficiency|classical galactosemia, homozygous duarte-type|classic galactosemia	http://purl.obolibrary.org/obo/MONDO_0009258	http://identifiers.org/snomedct/10899004|DOID:0111459|Orphanet:79239|https://omim.org/entry/230400	ordo_disease
MONDO:0009257	biolink:Disease	galactose epimerase deficiency	Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.	OMIM:230350|SCTID:8849004|DOID:0111458|Orphanet:79238|GARD:0005392	mondo.json	galactosemia 3|galactose epimerase deficiency|Gale deficiency|GALE-D|galactosemia type 3|uridine diphosphate galactose-4-epimerase deficiency|GALE deficiency|UDP-galactose-4-epimerase deficiency|epimerase deficiency galactosemia	http://purl.obolibrary.org/obo/MONDO_0009257	DOID:0111458|Orphanet:79238|http://identifiers.org/snomedct/8849004|https://omim.org/entry/230350	gard_rare|ordo_disease
MONDO:0009256	biolink:Disease	galactorrhea	Excessive or inappropriate lactation in females or males, and not necessarily related to pregnancy. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is hyperprolactinemia.	MESH:D005687|HP:0100829|ICD9:611.6|OMIM:230300|SCTID:78622004|NCIT:C113343	mondo.json	galactorrhea|galactorrhea (disease)	http://purl.obolibrary.org/obo/MONDO_0009256	http://identifiers.org/snomedct/78622004|NCIT:C113343|http://identifiers.org/mesh/D005687|https://omim.org/entry/230300	
MONDO:0009255	biolink:Disease	galactokinase deficiency	Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.	Orphanet:79237|GARD:0002422|OMIM:230200|UMLS:C0268155|SCTID:124302001|DOID:14695|NCIT:C114767	mondo.json	galactokinase deficiency galactosemia|galactokinase deficiency|galactokinase deficiency with cataracts|galactosemia type 2|galactosemia 2|hereditary galactokinase deficiency|galactosemia II|Galk deficiency|GALK-D|GALK deficiency	http://purl.obolibrary.org/obo/MONDO_0009255	DOID:14695|Orphanet:79237|NCIT:C114767|UMLS:C0268155|https://omim.org/entry/230200|http://identifiers.org/snomedct/124302001	ordo_disease|gard_rare
MONDO:0009254	biolink:Disease	fucosidosis	Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.	OMIM:230000|MESH:D005645|UMLS:C0016788|SCTID:64716005|DOID:14500|GARD:0006473|Orphanet:349|NCIT:C61274|ICD9:271.8	mondo.json	lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues|alpha fucosidase deficiency|fucosidosis|Alpha-L-fucosidase deficiency|A-fucosidase deficiency	http://purl.obolibrary.org/obo/MONDO_0009254	DOID:14500|NCIT:C61274|http://identifiers.org/snomedct/64716005|http://identifiers.org/mesh/D005645|UMLS:C0016788|https://omim.org/entry/230000|Orphanet:349	gard_rare|ordo_disease
MONDO:0009253	biolink:Disease	Fryns syndrome	Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.	MESH:C538070|GARD:0003699|Orphanet:2059|OMIM:229850|SCTID:702432006|NCIT:C98932|ICD9:759.89|UMLS:C0220730	mondo.json	Moerman Van den Berghe Fryns syndrome|diaphragmatic hernia, abnormal face, and distal limb anomalies|Fryns syndrome|diaphragmatic hernia-abnormal face-distal limb anomalies syndrome|FRNS	http://purl.obolibrary.org/obo/MONDO_0009253	http://identifiers.org/snomedct/702432006|NCIT:C98932|UMLS:C0220730|https://omim.org/entry/229850|Orphanet:2059|http://identifiers.org/mesh/C538070	ordo_malformation_syndrome|gard_rare
MONDO:0012894	biolink:Disease	osteoarthritis susceptibility 6		UMLS:C0409959|SCTID:239873007|ICD9:715.96|OMIM:612401	mondo.json	osteoarthritis of knee|OS6|osteoarthritis susceptibility 6	http://purl.obolibrary.org/obo/MONDO_0012894	https://omim.org/entry/612401|UMLS:C0409959|http://identifiers.org/snomedct/239873007	
MONDO:0010231	biolink:Disease	intellectual disability, X-linked 20		UMLS:C0796226|OMIM:300047|MESH:C563142	mondo.json	intellectual disability, X-linked 20|MRX20|mental retardation, X-linked 20	http://purl.obolibrary.org/obo/MONDO_0010231	UMLS:C0796226|http://identifiers.org/mesh/C563142|https://omim.org/entry/300047	
MONDO:0009252	biolink:Disease	essential fructosuria	Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.	ICD10CM:E74.11|MedDRA:10015487|MESH:C538068|Orphanet:2056|UMLS:C0268160|DOID:0111680|OMIM:229800|SCTID:40278002	mondo.json	ketohexokinase deficiency|hepatic fructokinase deficiency|fructosuria, essential|fructokinase deficiency	http://purl.obolibrary.org/obo/MONDO_0009252	DOID:0111680|UMLS:C0268160|https://omim.org/entry/229800|http://identifiers.org/mesh/C538068|Orphanet:2056|http://purl.bioontology.org/ontology/ICD10CM/E74.11|http://identifiers.org/snomedct/40278002	ordo_disease
MONDO:0012895	biolink:Disease	torsion dystonia 17	A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12.	OMIM:612406|MESH:C567319|DOID:0090042|Orphanet:370103|UMLS:C2676281	mondo.json	dystonia 17, torsion, autosomal recessive|dystonia-17, primary torsion|primary dystonia, DYT17 type|DYT17|torsion dystonia type 17	http://purl.obolibrary.org/obo/MONDO_0012895	Orphanet:370103|https://omim.org/entry/612406|http://identifiers.org/mesh/C567319|UMLS:C2676281|DOID:0090042	ordo_disease
MONDO:0010230	biolink:Disease	intellectual disability, X-linked 23		OMIM:300046|MESH:C563144|UMLS:C0796229	mondo.json	intellectual disability, X-linked 23|MRX23|mental retardation, X-linked 23	http://purl.obolibrary.org/obo/MONDO_0010230	UMLS:C0796229|http://identifiers.org/mesh/C563144|https://omim.org/entry/300046	
MONDO:0010233	biolink:Disease	heterotopia, periventricular, X-linked dominant		SCTID:448227009|ICD9:742.4|OMIM:300049|GARD:0007371	mondo.json	heterotopia, periventricular nodular, with Frontometaphyseal dysplasia|heterotopia periventricular X-linked dominant|heterotopia, periventricular, Ehlers-Danlos variant|heterotopia, periventricular, X-linked dominant|periventricular nodular heterotopia 4, formerly|X-linked periventricular heterotopia|periventricular nodular heterotopia 4|NHBP|nodular heterotopia bilateral periventricular|nodular heterotopia, bilateral periventricular|BPNH|bilateral periventricular nodular heterotopia|PVNH1|periventricular nodular heterotopia 1|heterotopia, familial nodular|heterotopia, periventricular, 1, X-linked dominant|heterotopia familial nodular	http://purl.obolibrary.org/obo/MONDO_0010233	https://omim.org/entry/300049|http://identifiers.org/snomedct/448227009	
MONDO:0009251	biolink:Disease	fructose-1,6-bisphosphatase deficiency	Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.	GARD:0002400|UMLS:C0016756|SCTID:28183005|Orphanet:348|NCIT:C128119|OMIM:229700|DOID:5204	mondo.json	FBP1D|fructose 1,6 diphosphatase deficiency|fructose-1,6-diphosphatase deficiency|fructose-1,6-bisphosphatase deficiency|baker-Winegrad disease|fructose 1 phosphate aldolase deficiency	http://purl.obolibrary.org/obo/MONDO_0009251	https://omim.org/entry/229700|http://identifiers.org/snomedct/28183005|UMLS:C0016756|DOID:5204|Orphanet:348|NCIT:C128119	ordo_disease
MONDO:0012892	biolink:Disease	bone fragility with contractures, arterial rupture, and deafness	A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.	Orphanet:300284|OMIM:612394|SCTID:763318007|UMLS:C2676285|MESH:C567320	mondo.json	bone fragility with contractures, arterial rupture, and deafness|connective tissue disorder due to LH3 deficiency|connective tissue disorder due to lysyl hydroxylase-3 deficiency|lysyl Hydroxylase 3 deficiency|bone fragility-contractures-arterial rupture-deafness syndrome|LH3 deficiency	http://purl.obolibrary.org/obo/MONDO_0012892	https://omim.org/entry/612394|UMLS:C2676285|http://identifiers.org/mesh/C567320|http://identifiers.org/snomedct/763318007|Orphanet:300284	ordo_disease
MONDO:0012893	biolink:Disease	osteoarthritis susceptibility 5	Any osteoarthritis in which the cause of the disease is a mutation in the GDF5 gene.	UMLS:C0029410|SCTID:239872002|OMIM:612400	mondo.json	GDF5 osteoarthritis|OS5|osteoarthritis of hip|osteoarthritis susceptibility 5|osteoarthritis-5|osteoarthritis susceptibility type 5|osteoarthritis caused by mutation in GDF5	http://purl.obolibrary.org/obo/MONDO_0012893	UMLS:C0029410|https://omim.org/entry/612400|http://identifiers.org/snomedct/239872002	predisposition
MONDO:0009250	biolink:Disease	obsolete fructose utilization		OMIM:229650	mondo.json	fructose utilization	http://purl.obolibrary.org/obo/MONDO_0009250	https://omim.org/entry/229650	
MONDO:0010232	biolink:Disease	intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms.	OMIM:300048|GARD:0003017|MESH:C535532	mondo.json	CIIP X-linked|CIIP|congenital short bowel syndrome, X-linked recessive|congenital short bowel syndrome, X-linked|CIIPX|Ipox|intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked|intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement|Ciip, X-linked|intestinal pseudoobstruction, neuronal, X-linked recessive|intestinal pseudoobstruction neuronal chronic idiopathic X-linked|congenital idiopathic intestinal pseudoobstruction	http://purl.obolibrary.org/obo/MONDO_0010232	https://omim.org/entry/300048|http://identifiers.org/mesh/C535532	gard_rare
MONDO:0010235	biolink:Disease	X-linked intellectual disability-psychosis-macroorchidism syndrome		Orphanet:3077|SCTID:702356009|OMIM:300055|DOID:0060827|ICD9:758.89|GARD:0003506	mondo.json	MRXS13|intellectual disability, X-linked 79|PPM-X syndrome|X-linked intellectual disability 79|mental retardation, X-linked, syndromic type 13|intellectual deficit, X-linked - psychosis - macroorchidism|mental retardation with psychosis, pyramidal signs, and macroorchidism|Lindsay-Burn syndrome|intellectual developmental disorder, X-linked, syndromic 13, X-linked recessive|intellectual disability, X-linked, syndromic 13|X-linked intellectual disability with spasticity|mental retardation, X-linked, syndromic 13|intellectual disability, X-linked, syndromic type 13|mental retardation, X-linked 16|mental retardation, X-linked, with spasticity|X-linked mental retardation with spasticity|intellectual disability psychosis macroorchidism|PPM-X|mental retardation psychosis macroorchidism|mental retardation, X-linked 79|X-linked mental retardation 79|intellectual disability, X-linked 16|intellectual disability, X-linked, with spasticity|intellectual disability with psychosis, pyramidal signs, and macroorchidism	http://purl.obolibrary.org/obo/MONDO_0010235	https://omim.org/entry/300055|DOID:0060827|Orphanet:3077|http://identifiers.org/snomedct/702356009	gard_rare|ordo_malformation_syndrome
MONDO:0012898	biolink:Disease	narcolepsy 4, susceptibility to		OMIM:612417|UMLS:C2676275	mondo.json	narcolepsy 4, susceptibility to|narcolepsy 4|NRCLP4	http://purl.obolibrary.org/obo/MONDO_0012898	https://omim.org/entry/612417|UMLS:C2676275	predisposition
MONDO:0012899	biolink:Disease	alopecia, androgenetic, 3		UMLS:C2676272|MESH:C567317|OMIM:612421	mondo.json	alopecia, androgenetic, 3|AGA3	http://purl.obolibrary.org/obo/MONDO_0012899	https://omim.org/entry/612421|http://identifiers.org/mesh/C567317|UMLS:C2676272	
MONDO:0010234	biolink:Disease	obsolete body length, mouse, human homolog		OMIM:300054	mondo.json	body length, mouse, HUMAN homolog	http://purl.obolibrary.org/obo/MONDO_0010234		
MONDO:0010237	biolink:Disease	X-linked intellectual disability-plagiocephaly syndrome	X-linked intellectual disability-plagiocephaly syndrome is characterised by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism.	MESH:C537512|SCTID:719812008|GARD:0004377|OMIM:300064|UMLS:C2931516|GARD:0002765|Orphanet:2898	mondo.json	plagiocephaly and X-linked mental retardation|mental retardation, X-linked, with craniofacial dysmorphism|intellectual disability, X-linked, with craniofacial dysmorphism|intellectual disability, X-linked Hyde-Forster type|mental retardation, X-linked, Hyde-Forster type|Hyde Forster-McCarthy-Berry syndrome|intellectual disability, X-linked, Hyde-Forster type|mental retardation, X-linked Hyde-Forster type|intellectual disability, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features|Hyde Forster McCarthy Berry syndrome|plagiocephaly and X-linked intellectual disability|mental retardation, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features	http://purl.obolibrary.org/obo/MONDO_0010237	https://omim.org/entry/300064|UMLS:C2931516|http://identifiers.org/snomedct/719812008|http://identifiers.org/mesh/C537512|Orphanet:2898	ordo_malformation_syndrome|gard_rare
MONDO:0012896	biolink:Disease	psoriasis 10, susceptibility to		DOID:0111289|OMIM:612410	mondo.json	PSORS10|psoriasis 10, susceptibility to|psoriasis susceptibility 10	http://purl.obolibrary.org/obo/MONDO_0012896	https://omim.org/entry/612410|DOID:0111289	
MONDO:0012897	biolink:Disease	congenital factor XI deficiency	Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.	NCIT:C84705|OMIM:612416|SCTID:49762007|Orphanet:329|ICD9:286.2|DOID:2229|MESH:D005173|GARD:0009670|UMLS:C0015523	mondo.json	factor 11 deficiency|PTA deficiency|factor XI deficiency|hereditary Factor XI deficiency|factor XI deficiency, autosomal recessive|congenital factor XI deficiency|F11 deficiency|hemophilia C|Rosenthal factor deficiency|Rosenthal syndrome|plasma thromboplastin antecedent deficiency|hereditary factor XI deficiency disease|factor XI deficiency, autosomal dominant|hereditary factor XI deficiency|Rosenthal's disease	http://purl.obolibrary.org/obo/MONDO_0012897	http://identifiers.org/mesh/D005173|https://omim.org/entry/612416|NCIT:C84705|UMLS:C0015523|Orphanet:329|http://identifiers.org/snomedct/49762007|DOID:2229	ordo_disease|gard_rare
MONDO:0010236	biolink:Disease	intellectual disability, X-linked 14		GARD:0008557|OMIM:300062|MESH:C537454	mondo.json	MRX14|mental retardation, X-linked 14|intellectual disability, X-linked nonspecific, type 14|mental retardation, X-linked nonspecific, type 14|intellectual disability, X-linked 14	http://purl.obolibrary.org/obo/MONDO_0010236	https://omim.org/entry/300062|http://identifiers.org/mesh/C537454	
MONDO:0024868	biolink:Disease	metastatic carcinoma in the adrenal medulla	A carcinoma that has spread to the adrenal medulla from an adjacent or distant anatomic site.	NCIT:C9276|UMLS:C1334717	mondo.json	metastatic carcinoma in the adrenal medulla|metastatic carcinoma to the adrenal medulla	http://purl.obolibrary.org/obo/MONDO_0024868	UMLS:C1334717|NCIT:C9276	
MONDO:0022208	biolink:Disease	crystal arthropathy		ICD9:712.98|SCTID:18834007|MEDGEN:508879|ICD9:712.80|ICD9:712.90|GARD:0012802|ICD9:712|UMLS:C0152087|ICD9:712.88	mondo.json	Crystalline Arthritis|Crystalline Arthropathy|Crystalline Arthritides|Crystalline arthritis|Crystalline Arthropathies|crystal-related arthropathy and periarthropathy|Crystal Arthropathy|Crystal Arthritis|Crystal arthropathy|Crystal Arthritides|Crystal-induced arthritis AND/OR synovitis|Crystal Arthropathies|Arthropathies, Crystalline|Arthritides, Crystalline|Arthropathy, Crystalline|Arthritis, Crystalline|crystal arthropathy|crystalline arthritis|Arthropathies, Crystal|Crystal-related arthropathy and periarthropathy|Arthritides, Crystal|Arthritis, Crystal|Arthropathy, Crystal|crystal-induced arthritis and/or synovitis	http://purl.obolibrary.org/obo/MONDO_0022208	http://identifiers.org/snomedct/18834007|UMLS:C0152087	
MONDO:0012890	biolink:Disease	pontocerebellar hypoplasia type 2B	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene.	MESH:C567325|OMIM:612389|DOID:0060268|UMLS:C2676466	mondo.json	pontocerebellar hypoplasia type 2B|TSEN2 non-syndromic pontocerebellar hypoplasia|non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN2|pontocerebellar hypoplasia, type 2B|PCH2B	http://purl.obolibrary.org/obo/MONDO_0012890	https://omim.org/entry/612389|http://identifiers.org/mesh/C567325|UMLS:C2676466|DOID:0060268	
MONDO:0012891	biolink:Disease	pontocerebellar hypoplasia type 2C	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene.	UMLS:C2676465|MESH:C567324|DOID:0060269|OMIM:612390	mondo.json	TSEN34 non-syndromic pontocerebellar hypoplasia|PCH2C|pontocerebellar hypoplasia, type 2C|non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN34	http://purl.obolibrary.org/obo/MONDO_0012891	https://omim.org/entry/612390|http://identifiers.org/mesh/C567324|UMLS:C2676465|DOID:0060269	
MONDO:0000894	biolink:Disease	mucinous bronchioloalveolar adenocarcinoma	A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion.	DOID:0080185	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000894	DOID:0080185	
MONDO:0024861	biolink:Disease	mixed teratoma and seminoma		NCIT:C9010	mondo.json	mixed teratoma and seminoma	http://purl.obolibrary.org/obo/MONDO_0024861	NCIT:C9010	
MONDO:0000893	biolink:Disease	mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma	A rare morphologic variant of bronchiolo-alveolar lung carcinoma characterized by the presence of both mucin and non-mucin producing cells.	DOID:0080184|ICDO:8254/3|UMLS:C1266036|NCIT:C7270	mondo.json	mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma|indeterminate bronchioloalveolar carcinoma|mixed mucinous and non-mucinous bronchioloalveolar carcinoma|mixed mucinous and non-mucinous bronchioloalveolar lung carcinoma|mixed mucinous and non-mucinous bronchoalveolar lung carcinoma	http://purl.obolibrary.org/obo/MONDO_0000893	DOID:0080184|UMLS:C1266036|NCIT:C7270	
MONDO:0000892	biolink:Disease	colon medullary carcinoma	A rare, invasive colon adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.	UMLS:C1880119|DOID:0080183|ONCOTREE:CMC|NCIT:C60641	mondo.json	medullary colon carcinoma|colon medullary carcinoma|medullary carcinoma of the colon	http://purl.obolibrary.org/obo/MONDO_0000892	NCIT:C60641|UMLS:C1880119|DOID:0080183	
MONDO:0022200	biolink:Disease	obsolete treatment for disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022200		
MONDO:0024863	biolink:Disease	small size posterior uveal melanoma		NCIT:C9089|UMLS:C0278867	mondo.json	small size posterior uveal melanoma	http://purl.obolibrary.org/obo/MONDO_0024863	NCIT:C9089|UMLS:C0278867	
MONDO:0022201	biolink:Disease	obsolete has treatment by surgery			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022201		
MONDO:0000891	biolink:Disease	mixed fibrolamellar hepatocellular carcinoma	A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components.	DOID:0080182	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000891	DOID:0080182	
MONDO:0000898	biolink:Disease	malignant hemangioma	A malignant form of hemangioma.	UMLS:C0474836|DOID:0080189	mondo.json	hemangioma, malignant	http://purl.obolibrary.org/obo/MONDO_0000898	UMLS:C0474836|DOID:0080189	
MONDO:0022202	biolink:Disease	disseminated			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022202		
MONDO:0024864	biolink:Disease	medium/large size posterior uveal melanoma		UMLS:C0278868|NCIT:C9090	mondo.json	medium/large size posterior uveal melanoma	http://purl.obolibrary.org/obo/MONDO_0024864	NCIT:C9090|UMLS:C0278868	
MONDO:0000897	biolink:Disease	obsolete chronic myelomonocytic leukemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000897		
MONDO:0000896	biolink:Disease	obsolete chronic neutrophilic leukemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000896		
MONDO:0009229	biolink:Disease	hyaline fibromatosis syndrome		GARD:0006807|UMLS:C2745948|OMIM:228600|DOID:0111669|Orphanet:498474	mondo.json	juvenile hyaline fibromatosis (former subtype)|infantile systemic hyalinosis (former subtype)|hyalinosis, systemic|inherited systemic hyalinosis|HFS|hyaline fibromatosis syndrome	http://purl.obolibrary.org/obo/MONDO_0009229	Orphanet:498474|https://omim.org/entry/228600|UMLS:C2745948|DOID:0111669	ordo_disease
MONDO:0022205	biolink:Disease	pustular psoriasis		MEDGEN:508876|UMLS:C0152081|ICD9:696.1|SCTID:200973000|GARD:0012813	mondo.json	pustular psoriasis|Pustular psoriasis	http://purl.obolibrary.org/obo/MONDO_0022205	http://identifiers.org/snomedct/200973000|UMLS:C0152081	gard_rare
MONDO:0000895	biolink:Disease	nonmucinous bronchioloalveolar adenocarcinoma	A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation.	DOID:0080186	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000895	DOID:0080186	
MONDO:0009228	biolink:Disease	gingival fibromatosis-facial dysmorphism syndrome	Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.	OMIM:228560|MESH:C565567|Orphanet:2025|UMLS:C1856761|GARD:0010528	mondo.json	gingival fibromatosis with craniofacial dysmorphism|fibromatosis, gingival, with distinctive facies|gingival fibromatosis with distinctive facies	http://purl.obolibrary.org/obo/MONDO_0009228	https://omim.org/entry/228560|Orphanet:2025|UMLS:C1856761|http://identifiers.org/mesh/C565567	gard_rare|ordo_malformation_syndrome
MONDO:0010217	biolink:Disease	de Sanctis-Cacchione syndrome	A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.	MESH:C535992|NCIT:C84666|UMLS:CN199649|SCTID:414673004|OMIM:278800|Orphanet:1569|GARD:0008276|ICD9:759.89|UMLS:C0265201	mondo.json	de Sanctis-Cacchione syndrome|xerodermic idiocy	http://purl.obolibrary.org/obo/MONDO_0010217	UMLS:C0265201|https://omim.org/entry/278800|UMLS:CN199649|http://identifiers.org/mesh/C535992|NCIT:C84666|http://identifiers.org/snomedct/414673004	gard_rare
MONDO:0009227	biolink:Disease	myofibromatosis, infantile, 1	Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene.	ICD9:756.9|SCTID:254146000|OMIM:228550|MESH:C562978	mondo.json	myofibromatosis, infantile, type 1|myofibromatosis, infantile, 1|myofibromatosis caused by mutation in PDGFRB|myofibromatosis, juvenile|PDGFRB myofibromatosis|IMF1|fibromatosis, congenital generalized	http://purl.obolibrary.org/obo/MONDO_0009227	http://identifiers.org/mesh/C562978|https://omim.org/entry/228550|http://identifiers.org/snomedct/254146000	
MONDO:0010216	biolink:Disease	xeroderma pigmentosum group G	Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene.	MESH:C562593|NCIT:C3969|Orphanet:276267|UMLS:C0268141|OMIM:278780|SCTID:36454001|GARD:0005629|DOID:0110849|UMLS:C1851443	mondo.json	xeroderma pigmentosum type 7|XP7|xeroderma pigmentosum, complementation group G|xeroderma pigmentosum, type G/Cockayne syndrome|xeroderma pigmentosum, group G|xeroderma pigmentosum complementation group G|xeroderma pigmentosum, complementation group type G|xeroderma pigmentosum, group G/Cockayne syndrome|xeroderma pigmentosum group G|xeroderma pigmentosum group type G|XPG|ERCC5 xeroderma pigmentosum|XP group G|XP, Group G|xeroderma pigmentosum caused by mutation in ERCC5|xeroderma pigmentosum 7|XP-G|xeroderma pigmentosum VII	http://purl.obolibrary.org/obo/MONDO_0010216	https://omim.org/entry/278780|DOID:0110849|http://identifiers.org/mesh/C562593|UMLS:C0268141|NCIT:C3969|http://identifiers.org/snomedct/36454001	
MONDO:0009226	biolink:Disease	fibrochondrogenesis 1	Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene.	UMLS:C3278138|OMIM:228520	mondo.json	fibrochondrogenesis type 1|FBCG1|COL11A1 fibrochondrogenesis|fibrochondrogenesis 1|fibrochondrogenesis caused by mutation in COL11A1	http://purl.obolibrary.org/obo/MONDO_0009226	https://omim.org/entry/228520|UMLS:C3278138	
MONDO:0012878	biolink:Disease	Cowden syndrome 2	Any Cowden disease in which the cause of the disease is a mutation in the SDHB gene.	UMLS:C3552552|OMIM:612359|MESH:C567337	mondo.json	SDHB Cowden disease|CWS2|Cowden syndrome type 2|Cowden syndrome 2|Cowden disease caused by mutation in SDHB	http://purl.obolibrary.org/obo/MONDO_0012878	https://omim.org/entry/612359|http://identifiers.org/mesh/C567337	
MONDO:0010219	biolink:Disease	xylosidase deficiency		UMLS:C1848407|MESH:C564730|OMIM:278900	mondo.json	xylosidase deficiency	http://purl.obolibrary.org/obo/MONDO_0010219	https://omim.org/entry/278900|http://identifiers.org/mesh/C564730|UMLS:C1848407	
MONDO:0010218	biolink:Disease	46,XX sex reversal 2		OMIM:278850|DOID:0111763|UMLS:C2749215	mondo.json	SRXX2|46,XX Sex reversal type 2|46XX sex reversal 2|46,XX SEX reversal 2|46,XX sex reversal 2|chromosome 17Q24 Duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0010218	UMLS:C2749215|DOID:0111763|https://omim.org/entry/278850	
MONDO:0012879	biolink:Disease	schizophrenia 14	A schizophrenia that has material basis in a mutation on chromosome 2q32.1.	UMLS:C2677614|DOID:0070090|OMIM:612361	mondo.json	schizophrenia 14|SCZD14|Sczd14|schizophrenia susceptibility locus, chromosome 2Q32-related|schizophrenia type 14|schizophrenia, susceptibility to, 14	http://purl.obolibrary.org/obo/MONDO_0012879	DOID:0070090|https://omim.org/entry/612361|UMLS:C2677614	
MONDO:0009225	biolink:Disease	fever, familial lifelong persistent		MESH:C565569|OMIM:228400|UMLS:C1856788	mondo.json	fever, familial lifelong persistent	http://purl.obolibrary.org/obo/MONDO_0009225	https://omim.org/entry/228400|UMLS:C1856788|http://identifiers.org/mesh/C565569	
MONDO:0009224	biolink:Disease	fetal iodine syndrome	Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH).	GARD:0002304|Orphanet:1910|OMIM:228355|UMLS:C4273860|SCTID:718228001	mondo.json	fetal iodine deficiency disorder|endemic cretinism|FIDD	http://purl.obolibrary.org/obo/MONDO_0009224	UMLS:C4273860|http://identifiers.org/snomedct/718228001|Orphanet:1910|https://omim.org/entry/228355	ordo_malformation_syndrome|gard_rare
MONDO:0000890	biolink:Disease	Zika virus congenital syndrome	A congenital birth syndrome that arises from materal Zika infection.	DOID:0080180|MESH:D000071243	mondo.json	congenital Zika virus infection|ZIKV congenital infection|congenital Zika syndrome	http://purl.obolibrary.org/obo/MONDO_0000890	DOID:0080180	
MONDO:0009223	biolink:Disease	hypogonadotropic hypogonadism 23 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene.	Orphanet:325448|GARD:0010127|ICD9:253.4|SCTID:8829008|UMLS:C0271582|MESH:C537919|OMIM:228300|DOID:0090091	mondo.json	HH23|Pasqualini syndrome|46,XY disorder of sex development due to LHB deficiency|eunuchoidism with spermatogenesis, normal FSH and low or normal interstitial cell-stimulating hormone (ICSH)|46,XY DSD due to LHB deficiency|46,XY DSD due to luteinizing hormone subunit beta deficiency|LHB hypogonadotropic hypogonadism|fertile eunuch syndrome|46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency|hypogonadotropic hypogonadism caused by mutation in LHB|Leydig cell hypoplasia due to LHB deficiency|Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency|hypogonadotropic hypogonadism 23 without anosmia	http://purl.obolibrary.org/obo/MONDO_0009223	UMLS:C0271582|http://identifiers.org/mesh/C537919|DOID:0090091|http://identifiers.org/snomedct/8829008|Orphanet:325448|https://omim.org/entry/228300	ordo_clinical_subtype
GO:1905276	biolink:NamedThing	regulation of epithelial tube formation	Any process that modulates the frequency, rate or extent of epithelial tube formation.		mondo.json		http://purl.obolibrary.org/obo/GO_1905276		
GO:1905277	biolink:NamedThing	negative regulation of epithelial tube formation	Any process that stops, prevents or reduces the frequency, rate or extent of epithelial tube formation.		mondo.json	inhibition of epithelial tube formation|downregulation of epithelial tube formation|down-regulation of epithelial tube formation|down regulation of epithelial tube formation	http://purl.obolibrary.org/obo/GO_1905277		
MONDO:0009222	biolink:Disease	Gollop-Wolfgang complex	Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur.	UMLS:C1856789|GARD:0002285|OMIM:228250|SCTID:716006003|MESH:C537917|Orphanet:1986	mondo.json	femur, unilateral bifid, with monodactylous ectrodactyly|Gollop-Wolfgang complex|femur bifid with monodactylous ectrodactyly|GWC|bifid femur-monodactylous ectrodactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0009222	http://identifiers.org/mesh/C537917|UMLS:C1856789|Orphanet:1986|https://omim.org/entry/228250|http://identifiers.org/snomedct/716006003	ordo_malformation_syndrome
MONDO:0009221	biolink:Disease	femur-fibula-ulna complex	Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal.	MedDRA:10068448|UMLS:C1856790|Orphanet:2019|OMIM:228200|GARD:0002286|MESH:C537918	mondo.json	femur fibula ulna syndrome|femur-fibula-ulna dysostosis|FFU complex|femur-fibula-ulna syndrome|Ffu syndrome|PFFD	http://purl.obolibrary.org/obo/MONDO_0009221	http://identifiers.org/mesh/C537918|UMLS:C1856790|https://omim.org/entry/228200|Orphanet:2019	ordo_malformation_syndrome
GO:1905278	biolink:NamedThing	positive regulation of epithelial tube formation	Any process that activates or increases the frequency, rate or extent of epithelial tube formation.		mondo.json	up-regulation of epithelial tube formation|up regulation of epithelial tube formation|activation of epithelial tube formation|upregulation of epithelial tube formation	http://purl.obolibrary.org/obo/GO_1905278		
MONDO:0010220	biolink:Disease	Young syndrome	Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections.	UMLS:C0340037|GARD:0000341|MedDRA:10063689|MESH:C536718|ICD9:759.89|Orphanet:3471|SCTID:233666007|OMIM:279000	mondo.json	Barry Perkins Young syndrome|young syndrome|sinusitis-infertility syndrome|azoospermia-sinopulmonary infections syndrome|Barry-Perkins-Young syndrome|azoospermia obstructive and chronic sinopulmonary infections|azoospermia, obstructive, and chronic sinopulmonary infections	http://purl.obolibrary.org/obo/MONDO_0010220	http://identifiers.org/snomedct/233666007|UMLS:C0340037|Orphanet:3471|https://omim.org/entry/279000|http://identifiers.org/mesh/C536718	ordo_disease|gard_rare
MONDO:0009220	biolink:Disease	visceral steatosis, congenital		ICD9:571.8|SCTID:270881008|GARD:0008514|OMIM:228100|MESH:C536351	mondo.json	fatty liver disease, congenital|steatosis of liver|fatal neonatal hepatic steatosis|visceral steatosis|visceral steatosis, congenital|White liver disease|fatty metamorphosis of viscera	http://purl.obolibrary.org/obo/MONDO_0009220	http://identifiers.org/mesh/C536351|http://identifiers.org/snomedct/270881008|https://omim.org/entry/228100	
MONDO:0012883	biolink:Disease	acute promyelocytic leukemia	An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue.	UMLS:C0023487|OMIM:612376|ICDO:9866/3|SCTID:110004001|MESH:D015473|GARD:0000538|MedDRA:10001019|EFO:0000224|Orphanet:520|DOID:0060318|NCIT:C3182	mondo.json	acute promyelocytic leukemia|leukemia, acute promyelocytic, somatic|acute promyelocytic leukemia with PML-rara|APL|acute myeloid leukemia M3|APML|APML - acute promyelocytic leukemia|AML M3|promyelocytic leukemia|AML with t(15;17)(q22;q12);(PML/RARalpha) and variants|acute myeloblastic leukemia type 3|leukemia, acute promyelocytic|acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants|acute myeloblastic leukemia 3|acute promyelocytic leukemia with t(15;17)(q22;q12); PML/rara|AML with t(15;17)(q22;q12)|FAB M3|acute promyelocytic leukemia with t(15;17)(q22;q12); PML-rara	http://purl.obolibrary.org/obo/MONDO_0012883	UMLS:C0023487|DOID:0060318|https://omim.org/entry/612376|NCIT:C3182|http://identifiers.org/mesh/D015473|http://identifiers.org/snomedct/110004001|Orphanet:520	ordo_disease
MONDO:0012884	biolink:Disease	systemic lupus erythematosus, susceptibility to, 13		OMIM:612378	mondo.json	SLEB13|systemic lupus erythematosus, susceptibility to, 13	http://purl.obolibrary.org/obo/MONDO_0012884	https://omim.org/entry/612378	predisposition
MONDO:0010222	biolink:Disease	X-linked Opitz G/BBB syndrome	X-linked form of Opitz G/BBB syndrome.	Orphanet:306597|OMIM:300000	mondo.json	Opitz GBBB syndrome, X-linked|Opitz GBBB syndrome, type I|Opitz GBBB syndrome, type I, X-linked recessive|GBBB1|Opitz syndrome, X-linked|hypertelorism with esophageal Abnormality and hypospadias|X-linked Opitz G/BBB syndrome|Opitz syndrome|Opitz GBBB syndrome, type 1|hypertelorism-hypospadias syndrome|X-linked Opitz syndrome|Opitz G/BBB syndrome, X-linked|telecanthus-hypospadias syndrome|Opitz Bbbg syndrome, type 1|Opitz-G syndrome, type 1|X-linked Opitz BBB/G syndrome|XLOS	http://purl.obolibrary.org/obo/MONDO_0010222	https://omim.org/entry/300000|Orphanet:306597	ordo_etiological_subtype
MONDO:0012881	biolink:Disease	major affective disorder 7		OMIM:612371|MESH:C567529	mondo.json	major affective disorder 7|bipolar affective disorder|MAFD7|major affective disorder type 7|major affective disorder-7, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0012881	https://omim.org/entry/612371|http://identifiers.org/mesh/C567529	
MONDO:0010221	biolink:Disease	CHIME syndrome	CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.	Orphanet:3474|UMLS:C1848392|OMIM:280000|MESH:C536729|SCTID:720639008|GARD:0000310	mondo.json	Zunich neuroectodermal syndrome|congenital disorder of glycosylation due to PIGL deficiency|CHIME syndrome|PIGL-CDG|neuroectodermal syndrome, Zunich type|glycosylphosphatidylinositol biosynthesis defect 5|coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome|coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome|neuroectodermal dysplasia, CHIME type|coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome|CHIME|Zunich-Kaye syndrome	http://purl.obolibrary.org/obo/MONDO_0010221	https://omim.org/entry/280000|http://identifiers.org/snomedct/720639008|UMLS:C1848392|Orphanet:3474|http://identifiers.org/mesh/C536729	ordo_malformation_syndrome
MONDO:0012882	biolink:Disease	major affective disorder 9		OMIM:612372|MESH:C567531	mondo.json	MAJOR affective disorder 9|bipolar affective disorder|major affective disorder-9, susceptibility to|major affective disorder 9|MAFD9	http://purl.obolibrary.org/obo/MONDO_0012882	https://omim.org/entry/612372|http://identifiers.org/mesh/C567531	
MONDO:0010224	biolink:Disease	corpus callosum agenesis-abnormal genitalia syndrome	Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed.	Orphanet:2508|MESH:C563110|UMLS:C0796124|OMIM:300004|GARD:0004528|SCTID:763797003	mondo.json	New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum|Proud syndrome|corpus callosum, agenesis of, with abnormal genitalia|ACC with abnormal genitalia|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|Proud Levine Carpenter syndrome|ACC-abnormal genitalia syndrome|Proud-Levine-Carpenter syndrome	http://purl.obolibrary.org/obo/MONDO_0010224	http://identifiers.org/snomedct/763797003|https://omim.org/entry/300004|http://identifiers.org/mesh/C563110|UMLS:C0796124|Orphanet:2508	ordo_malformation_syndrome
GO:0051092	biolink:NamedThing	positive regulation of NF-kappaB transcription factor activity	Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB.		mondo.json	activation of NF-kappaB transcription factor|activation of NF-kappaB|NF-kappaB activation	http://purl.obolibrary.org/obo/GO_0051092		
MONDO:0012887	biolink:Disease	inflammatory bowel disease 23	An inflammatory bowel disease that has material basis in variation in the chromosome region 1q32.1.	DOID:0110884|OMIM:612381|MESH:C567326|UMLS:C2676484	mondo.json	inflammatory bowel disease 23|IBD23|inflammatory bowel disease type 23	http://purl.obolibrary.org/obo/MONDO_0012887	DOID:0110884|https://omim.org/entry/612381|http://identifiers.org/mesh/C567326|UMLS:C2676484	
MONDO:0012888	biolink:Disease	sarcoidosis, susceptibility to, 2	Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene.	OMIM:612387	mondo.json	BTNL2 sarcoidosis|SS2|sarcoidosis, susceptibility to, type 2|susceptibility to sarcoidosis 2|sarcoidosis, susceptibility to, 2|sarcoidosis caused by mutation in BTNL2	http://purl.obolibrary.org/obo/MONDO_0012888	https://omim.org/entry/612387	predisposition
MONDO:0010223	biolink:Disease	ichthyosis, X-linked, without steroid sulfatase deficiency		MESH:C564729|UMLS:C1848387|OMIM:300001	mondo.json	ichthyosis, X-linked, without steroid sulfatase deficiency	http://purl.obolibrary.org/obo/MONDO_0010223	http://identifiers.org/mesh/C564729|https://omim.org/entry/300001|UMLS:C1848387	
GO:0051093	biolink:NamedThing	negative regulation of developmental process	Any process that stops, prevents or reduces the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult).		mondo.json	downregulation of developmental process|inhibition of developmental process|down-regulation of developmental process|down regulation of developmental process	http://purl.obolibrary.org/obo/GO_0051093		
MONDO:0010226	biolink:Disease	46,XY sex reversal 2		DOID:0111777|UMLS:C1848296|OMIM:300018|MESH:C535601	mondo.json	46,XY sex reversal 2|46XY sex reversal 2, dosage-sensitive|SRXY2|dosage-sensitive Sex reversal|46,XY Sex reversal type 2|46,XY Sex reversal, Dax1-related|46,XY SEX reversal 2	http://purl.obolibrary.org/obo/MONDO_0010226	DOID:0111777|https://omim.org/entry/300018|http://identifiers.org/mesh/C535601|UMLS:C1848296	
MONDO:0012885	biolink:Disease	SRD5A3-congenital disorder of glycosylation	SRD5A3-CDG is a rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.	Orphanet:324737|GARD:0012397|UMLS:C3150191|SCTID:733601006|DOID:0080568|UMLS:C4317224|OMIM:612379	mondo.json	coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities|CDGIq|congenital disorder of glycosylation type 1q|CDG Iq|congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency|CDG-Iq|CDG1Q|SRD5A3-congenital disorder of glycosylation|CDG syndrome type Iq|SRD5A3-CDG (CDG-Iq)|congenital disorder of glycosylation type Iq|congenital disorder of glycosylation, type Iq|SRD5A3-CDG	http://purl.obolibrary.org/obo/MONDO_0012885	https://omim.org/entry/612379|Orphanet:324737|UMLS:C4317224|http://identifiers.org/snomedct/733601006|DOID:0080568	ordo_disease
GO:0051090	biolink:NamedThing	regulation of DNA-binding transcription factor activity	Any process that modulates the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription.		mondo.json	regulation of DNA binding transcription factor activity|regulation of sequence-specific DNA binding transcription factor activity|regulation of androgen receptor activity|regulation of thyroid hormone receptor activity|regulation of transcription factor activity	http://purl.obolibrary.org/obo/GO_0051090		
MONDO:0010225	biolink:Disease	Dent disease type 1	Dent disease type 1 is a type of Dent disease with predominantly renal manifestations.	OMIM:308990|OMIM:310468|SCTID:717789008|OMIM:300554|OMIM:300009|Orphanet:93622|UMLS:C4305530|UMLS:CN206679	mondo.json	Dent disease type 1|dent disease 1, X-linked recessive|CLCN5 Dent disease|nephrolithiasis, hypercalciuric, X-linked|Dent disease caused by mutation in CLCN5|nephrolithiasis type 1|nephrolithiasis 2|urolithiasis, hypercalciuric, X-linked|DENT disease 1	http://purl.obolibrary.org/obo/MONDO_0010225	https://omim.org/entry/300009|UMLS:CN206679|http://identifiers.org/snomedct/717789008|Orphanet:93622	ordo_clinical_subtype
MONDO:0012886	biolink:Disease	inflammatory bowel disease 22	An inflammatory bowel disease that has material basis in variation in the chromosome region 17q21.2.	DOID:0110905|UMLS:C2676485|MESH:C567327|OMIM:612380	mondo.json	IBD22|inflammatory bowel disease type 22|inflammatory bowel disease 22	http://purl.obolibrary.org/obo/MONDO_0012886	DOID:0110905|https://omim.org/entry/612380|http://identifiers.org/mesh/C567327|UMLS:C2676485	
GO:0051091	biolink:NamedThing	positive regulation of DNA-binding transcription factor activity	Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription.		mondo.json	positive regulation of thyroid hormone receptor activity|up-regulation of transcription factor activity|positive regulation of transcription factor activity|up regulation of transcription factor activity|activation of transcription factor activity|stimulation of transcription factor activity|upregulation of transcription factor activity|positive regulation of DNA binding transcription factor activity|positive regulation of sequence-specific DNA binding transcription factor activity	http://purl.obolibrary.org/obo/GO_0051091		
MONDO:0024857	biolink:Disease	immature extragonadal teratoma	An immature teratoma that develops as a primary tumor in an anatomic site other than the testis or ovary.	NCIT:C8884|UMLS:C0855163	mondo.json	primary malignant extragonadal teratoma|extragonadal primary malignant teratoma|malignant extragonadal teratoma|immature extragonadal teratoma	http://purl.obolibrary.org/obo/MONDO_0024857	UMLS:C0855163|NCIT:C8884	
MONDO:0000889	biolink:Disease	haemophilus meningitis	Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults.	DOID:0080179|SCTID:5900006|ICD9:320.0|EFO:1000955|SCTID:192643004|MESH:D008583|MedDRA:10018953	mondo.json	Haemophilus influenzae bacterial meningitis|Haemophilus influenzae caused bacterial meningitis	http://purl.obolibrary.org/obo/MONDO_0000889	http://identifiers.org/snomedct/192643004|http://identifiers.org/mesh/D008583|http://identifiers.org/snomedct/5900006|DOID:0080179	
GO:0051094	biolink:NamedThing	positive regulation of developmental process	Any process that activates or increases the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult).		mondo.json	up-regulation of developmental process|up regulation of developmental process|activation of developmental process|stimulation of developmental process|upregulation of developmental process	http://purl.obolibrary.org/obo/GO_0051094		
MONDO:0000888	biolink:Disease	gastrointestinal mucositis	Inflammation of the mucous membranes lining the gastrointestinal tract.	DOID:0080178|MESH:D052016|ICD9:558.9|SCTID:95518006|NCIT:C3853|UMLS:C0521585|ICD9:538	mondo.json	gastrointestinal system mucosa inflammation|mucositis|inflammation of gastrointestinal system mucosa|gastrointestinal system mucosaitis	http://purl.obolibrary.org/obo/MONDO_0000888	http://identifiers.org/snomedct/95518006|http://identifiers.org/mesh/D052016|UMLS:C0521585|NCIT:C3853|DOID:0080178	
HGNC:23639	biolink:NamedThing	TTC37			mondo.json		http://identifiers.org/hgnc/23639		
MONDO:0012880	biolink:Disease	hypogonadotropic hypogonadism 5 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene.	DOID:0090084|MESH:C567220|UMLS:C3552553|OMIM:612370|ICD10CM:E23.0|GARD:0010773	mondo.json	hypogonadotropic hypogonadism 5 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in CHD7|KAL5|HH5|Kallmann syndrome 5|CHD7 hypogonadotropic hypogonadism	http://purl.obolibrary.org/obo/MONDO_0012880	UMLS:C3552553|https://omim.org/entry/612370|http://identifiers.org/mesh/C567220|DOID:0090084	gard_rare
GO:0090665	biolink:NamedThing	glycoprotein complex	A protein complex containing at least one glycosylated protein, may be held together by both covalent and noncovalent bonds.		mondo.json		http://purl.obolibrary.org/obo/GO_0090665		
GO:0051098	biolink:NamedThing	regulation of binding	Any process that modulates the frequency, rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0051098		
GO:0051099	biolink:NamedThing	positive regulation of binding	Any process that activates or increases the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule.		mondo.json	up-regulation of binding|up regulation of binding|activation of binding|stimulation of binding|upregulation of binding	http://purl.obolibrary.org/obo/GO_0051099		
GO:0099003	biolink:NamedThing	vesicle-mediated transport in synapse	Any vesicle-mediated transport that occurs in a synapse.		mondo.json		http://purl.obolibrary.org/obo/GO_0099003		
GO:0099004	biolink:NamedThing	calmodulin dependent kinase signaling pathway	Any signal transduction pathway involving calmodulin dependent kinase activity.		mondo.json	CAMK signaling pathway	http://purl.obolibrary.org/obo/GO_0099004		
HGNC:23658	biolink:NamedThing	DELEC1			mondo.json		http://identifiers.org/hgnc/23658		
HGNC:23657	biolink:NamedThing	GNE			mondo.json		http://identifiers.org/hgnc/23657		
MONDO:0012869	biolink:Disease	intellectual disability, autosomal dominant 22	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene.	OMIM:612337|MESH:C567346|Orphanet:36367|DOID:0070052|UMLS:C3808184	mondo.json	chromosome 1Q43-q44 deletion syndrome|autosomal dominant intellectual disability 22|mental retardation, autosomal dominant type 22|intellectual disability, autosomal dominant 22|chromosome 1Qter deletion syndrome|autosomal dominant non-syndromic intellectual disability 22|ZBTB18 autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant 22|autosomal dominant non-syndromic intellectual disability caused by mutation in ZBTB18|intellectual disability, autosomal dominant type 22|MRD22|autosomal dominant mental retardation 22	http://purl.obolibrary.org/obo/MONDO_0012869	http://identifiers.org/mesh/C567346|UMLS:C3808184|DOID:0070052|https://omim.org/entry/612337	
MONDO:0010206	biolink:Disease	hypotrichosis 8	Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene.	OMIM:278150|DOID:0110705|MESH:C566950|UMLS:C3279470	mondo.json	hypotrichosis 8|LAH3|woolly hair, autosomal recessive 1, with or without hypotrichosis|hypotrichosis type 8|LPAR6 hypotrichosis|hypotrichosis, localized, autosomal recessive 3|HYPT8|hypotrichosis caused by mutation in LPAR6	http://purl.obolibrary.org/obo/MONDO_0010206	https://omim.org/entry/278150|UMLS:C3279470|http://identifiers.org/mesh/C566950|DOID:0110705	
MONDO:0009239	biolink:Disease	hypogonadotropic hypogonadism 24 without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene.	OMIM:229070|GARD:0010128|MESH:C537070|DOID:0090088|Orphanet:52901|SCTID:758664007|UMLS:C1856716	mondo.json	follicle-stimulating hormone deficiency, isolated|hypogonadotropic hypogonadism caused by mutation in FSHB|isolated follicle stimulating hormone deficiency|FSHB hypogonadotropic hypogonadism|isolated FSH deficiency|HH24|isolated follicle-stimulating hormone (FSH) deficiency|isolated follicle-stimulating hormone deficiency|hypogonadotropic hypogonadism 24 without anosmia	http://purl.obolibrary.org/obo/MONDO_0009239	http://identifiers.org/mesh/C537070|UMLS:C1856716|DOID:0090088|http://identifiers.org/snomedct/758664007|https://omim.org/entry/229070|Orphanet:52901	ordo_disease
MONDO:0009238	biolink:Disease	hereditary folate malabsorption	Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.	OMIM:229050|GARD:0012983|SCTID:62578003|UMLS:C0342705|DOID:0111678|MESH:C562799|Orphanet:90045	mondo.json	congenital defect of folate absorption|folic acid transport defect|congenital folate malabsorption|folate malabsorption, hereditary	http://purl.obolibrary.org/obo/MONDO_0009238	Orphanet:90045|http://identifiers.org/snomedct/62578003|DOID:0111678|UMLS:C0342705|https://omim.org/entry/229050|http://identifiers.org/mesh/C562799	ordo_disease|gard_rare
MONDO:0010205	biolink:Disease	Wolman disease with hypolipoproteinemia and acanthocytosis		OMIM:278100|MESH:C564736|UMLS:C1848436	mondo.json	Wolman disease with hypolipoproteinemia and acanthocytosis	http://purl.obolibrary.org/obo/MONDO_0010205	https://omim.org/entry/278100|http://identifiers.org/mesh/C564736|UMLS:C1848436	
MONDO:0012867	biolink:Disease	hereditary spastic paraplegia 38	A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15.	MESH:C567349|OMIM:612335|DOID:0110789|Orphanet:171617|UMLS:C2676732	mondo.json	autosomal dominant spastic paraplegia 38|autosomal dominant spastic paraplegia type 38|hereditary spastic paraplegia type 38|SPG38|spastic paraplegia 38, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012867	UMLS:C2676732|DOID:0110789|https://omim.org/entry/612335|Orphanet:171617|http://identifiers.org/mesh/C567349	ordo_disease
MONDO:0009237	biolink:Disease	focal epithelial hyperplasia	Hyperplasia characterized by the presence of a focal proliferation of epithelial cells.	DOID:5362|SCTID:6121001|UMLS:C0206067|MESH:D017573|NCIT:C97083|OMIM:229045|EFO:0007275|ICD9:528.79	mondo.json	multifocal epithelial hyperplasia|heck's disease|heck disease|FEH, oral|focal epithelial hyperplasia, oral	http://purl.obolibrary.org/obo/MONDO_0009237	DOID:5362|UMLS:C0206067|http://identifiers.org/snomedct/6121001|NCIT:C97083|https://omim.org/entry/229045|http://identifiers.org/mesh/D017573	
MONDO:0010208	biolink:Disease	wrinkly skin syndrome	A type of cutis laxa that is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).	UMLS:C0406587|Orphanet:2834|OMIM:278250|ICD9:259.8|MESH:C536750|GARD:0000273|SCTID:238875009	mondo.json	WSS|wrinkled skin syndrome|wrinkly skin syndrome	http://purl.obolibrary.org/obo/MONDO_0010208	http://identifiers.org/snomedct/238875009|UMLS:C0406587|Orphanet:2834|https://omim.org/entry/278250|http://identifiers.org/mesh/C536750	ordo_clinical_subtype
MONDO:0009236	biolink:Disease	Kandori fleck retina	Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness.	ICD10CM:H35.5|OMIM:228990|Orphanet:99179|MESH:C562701|UMLS:C0271257|SCTID:765191009	mondo.json	FLECK retina of KANDORI	http://purl.obolibrary.org/obo/MONDO_0009236	Orphanet:99179|http://identifiers.org/snomedct/765191009|UMLS:C0271257|https://omim.org/entry/228990|http://identifiers.org/mesh/C562701	ordo_malformation_syndrome
MONDO:0012868	biolink:Disease	thrombophilia due to protein S deficiency, autosomal dominant	Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency.	OMIM:612336|UMLS:C3278211|MESH:C567077|MedDRA:10068370|Orphanet:26349	mondo.json	THPH5|protein S acquired deficiency|hereditary thrombophilia due to congenital protein S deficiency, autosomal dominant|thrombophilia due to protein S deficiency, autosomal dominant|autosomal dominant hereditary thrombophilia due to congenital protein S deficiency|thrombophilia 5 due to protein S deficiency, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012868	Orphanet:26349|UMLS:C3278211|https://omim.org/entry/612336|http://identifiers.org/mesh/C567077	ordo_disease
MONDO:0010207	biolink:Disease	woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome		OMIM:278200|MESH:C536746|Orphanet:1409|SCTID:239023005|GARD:0005594	mondo.json	woolly hair, hypotrichosis, everted LOWER LIP, and outstanding ears|wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome|Salamon syndrome|woolly hair hypotrichosis everted lower lip and outstanding ears	http://purl.obolibrary.org/obo/MONDO_0010207	Orphanet:1409|https://omim.org/entry/278200|http://identifiers.org/mesh/C536746|http://identifiers.org/snomedct/239023005	ordo_malformation_syndrome
MONDO:0009235	biolink:Disease	familial benign flecked retina	Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.	ICD10CM:H35.5|MESH:C565564|OMIM:228980|DOID:0111677|UMLS:C1856718|Orphanet:363989	mondo.json	FLECK retina, familial benign|FRFB|fleck retina, familial benign	http://purl.obolibrary.org/obo/MONDO_0009235	https://omim.org/entry/228980|Orphanet:363989|UMLS:C1856718|DOID:0111677|http://identifiers.org/mesh/C565564	ordo_disease
MONDO:0009234	biolink:Disease	congenital high-molecular-weight kininogen deficiency	A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis.	MESH:C537060|OMIM:228960|NCIT:C98946|GARD:0002684|DOID:0111676|Orphanet:483|SCTID:27312002|ICD9:286.9	mondo.json	HMWK|Fitzgerald trait kininogen deficiency, total, included|Flaujeac trait|kininogen deficiency|high molecular weight kininogen deficiency|Flaujeac factor deficiency|Flaujeac trait, included|HMWK deficiency|kininogen deficiency, high molecular weight|kininogen deficiency, high molecular weight and Low molecular weight|Williams trait|kininogen deficiency, total|Fitzgerald trait|high-molecular-weight kininogen deficiency, congenital|Williams trait, included|kininogen deficiency, high molecular weight and LOW molecular weight, included	http://purl.obolibrary.org/obo/MONDO_0009234	http://identifiers.org/mesh/C537060|https://omim.org/entry/228960|Orphanet:483|DOID:0111676|http://identifiers.org/snomedct/27312002|NCIT:C98946	ordo_disease|gard_rare
MONDO:0010209	biolink:Disease	xanthinuria type I	A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.	OMIM:278300|MESH:C562584|GARD:0005621|Orphanet:93601|SCTID:72682008	mondo.json	xanthinuria, type I|xanthine oxidase deficiency|XDH deficiency|xanthine dehydrogenase deficiency|xanthinuria type I|XO deficiency|hereditary xanthinuria, type I|XAN1|isolated xanthine oxidase deficiency|xanthinuria, type 1|XOR deficiency|xanthine oxidoreductase deficiency|type 1 xanthinuria|xanthinuria type 1	http://purl.obolibrary.org/obo/MONDO_0010209	https://omim.org/entry/278300|http://identifiers.org/mesh/C562584|http://identifiers.org/snomedct/72682008|Orphanet:93601	ordo_etiological_subtype
MONDO:0009233	biolink:Disease	Fibulo-ulnar hypoplasia-renal anomalies syndrome	Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.	OMIM:228940|GARD:0000320|MESH:C537226|UMLS:C1856727|Orphanet:2256|SCTID:716094008	mondo.json	Saito Kuba Tsuruta syndrome|FIBULOULNAR aplasia or hypoplasia with renal abnormalities|Saito-Kuba-Tsuruta syndrome|Fibulo ulnar hypoplasia renal anomalies	http://purl.obolibrary.org/obo/MONDO_0009233	http://identifiers.org/mesh/C537226|UMLS:C1856727|http://identifiers.org/snomedct/716094008|Orphanet:2256|https://omim.org/entry/228940	ordo_malformation_syndrome
MONDO:0009232	biolink:Disease	Fuhrmann syndrome	Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.	DOID:0090067|Orphanet:2854|GARD:0002410|UMLS:C1856728|SCTID:721296004|MESH:C538189|OMIM:228930	mondo.json	Fuhrmann syndrome|Fuhrmann-Rieger-de Sousa syndrome|fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly|fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome|bowing of the femurs, aplasia or hypoplasia of the fibula, and digital anomalies	http://purl.obolibrary.org/obo/MONDO_0009232	Orphanet:2854|UMLS:C1856728|http://identifiers.org/snomedct/721296004|DOID:0090067|http://identifiers.org/mesh/C538189|https://omim.org/entry/228930	gard_rare|ordo_malformation_syndrome
MONDO:0009231	biolink:Disease	acromesomelic dysplasia 2B		OMIM:228900|MESH:C537931|Orphanet:2639|OMIM:609441|GARD:0009879|SCTID:715474004|KEGG:H00467|DOID:0050790|UMLS:C1856738	mondo.json	acromesomelic dysplasia 2B|fibular aplasia-complex brachydactyly syndrome|Du Pan syndrome|fibular hypoplasia and complex brachydactyly	http://purl.obolibrary.org/obo/MONDO_0009231	Orphanet:2639|http://identifiers.org/mesh/C537931|UMLS:C1856738|DOID:0050790|http://identifiers.org/snomedct/715474004|https://omim.org/entry/228900	gard_rare|ordo_malformation_syndrome
MONDO:0012872	biolink:Disease	thrombophilia, familial, due to decreased release of tissue plasminogen activator		MESH:C567341|OMIM:612348	mondo.json	THPH9|hyperfibrinolysis, familial, due to increased release of tissue plasminogen activator|hyperfibrinolysis, familial, due to increased release of plat|thrombophilia, familial, due to decreased release of tissue plasminogen activator|thrombophilia, familial, due to decreased release of PLAT	http://purl.obolibrary.org/obo/MONDO_0012872	https://omim.org/entry/612348|http://identifiers.org/mesh/C567341	
MONDO:0009230	biolink:Disease	fibrosclerosis, multifocal		OMIM:228800|SCTID:111210001|ICD9:710.8|GARD:0005697|ICD10CM:M35.5|MESH:C537375	mondo.json	retroperitoneal fibrosis, familial|multifocal fibrosclerosis|fibrosclerosis, multifocal|mediastinal fibrosis, familial	http://purl.obolibrary.org/obo/MONDO_0009230	http://purl.bioontology.org/ontology/ICD10CM/M35.5|http://identifiers.org/mesh/C537375|http://identifiers.org/snomedct/111210001|https://omim.org/entry/228800	
MONDO:0012873	biolink:Disease	Ehlers-Danlos syndrome, spondylocheirodysplastic type	Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.	OMIM:612350|MESH:C567340|UMLS:C2676510|Orphanet:157965	mondo.json	SCD-EDS|EDSSPD3|spondylocheirodysplasia, Ehlers-Danlos syndrome-like|EDS, spondylocheirodysplastic type|Ehlers-Danlos syndrome, spondylodysplastic type, 3	http://purl.obolibrary.org/obo/MONDO_0012873	Orphanet:157965|https://omim.org/entry/612350|http://identifiers.org/mesh/C567340|UMLS:C2676510	ordo_disease
MONDO:0012870	biolink:Disease	chromosome 2q31.2 deletion syndrome		MESH:C567344|OMIM:612345|DOID:0060416|UMLS:C2676724	mondo.json	chromosome 2q31.2 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0012870	DOID:0060416|https://omim.org/entry/612345|http://identifiers.org/mesh/C567344|UMLS:C2676724	
MONDO:0010211	biolink:Disease	xeroderma pigmentosum group C	An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair.	NCIT:C114770|DOID:0110844|SCTID:25784009|UMLS:C2752147|OMIM:278720|Orphanet:276255|GARD:0005626|MESH:C567886	mondo.json	xeroderma pigmentosum, group C|XP-C|xeroderma pigmentosum, type 3|xeroderma pigmentosum III|XP3|xeroderma pigmentosum 3|XP, Group C|XP group C|xeroderma pigmentosum, complementation group C|xeroderma pigmentosum group C|XPC|XPCC|xeroderma pigmentosum, complementation group type C|xeroderma pigmentosum group type C	http://purl.obolibrary.org/obo/MONDO_0010211	UMLS:C2752147|https://omim.org/entry/278720|NCIT:C114770|DOID:0110844|http://identifiers.org/snomedct/25784009|http://identifiers.org/mesh/C567886	gard_rare
MONDO:0010210	biolink:Disease	xeroderma pigmentosum group A	Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene.	GARD:0005624|DOID:0110843|OMIM:278700|NCIT:C3965|SCTID:43477006|Orphanet:276249|UMLS:C0268135	mondo.json	xeroderma pigmentosum, complementation group type a|xeroderma pigmentosum group type A|xeroderma pigmentosum, group A|xeroderma pigmentosum, type 1|XPA xeroderma pigmentosum|XP group A|xeroderma pigmentosum 1|XP1|XPA|XP, group A|xeroderma pigmentosum caused by mutation in XPA|xeroderma pigmentosum, complementation group A|xeroderma pigmentosum group A|xeroderma pigmentosum complementation group A|XP-A	http://purl.obolibrary.org/obo/MONDO_0010210	http://identifiers.org/snomedct/43477006|https://omim.org/entry/278700|DOID:0110843|UMLS:C0268135|NCIT:C3965	gard_rare
MONDO:0012871	biolink:Disease	Jervell and Lange-Nielsen syndrome 2	Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene.	MESH:C567343|OMIM:612347|GARD:0010364	mondo.json	Jervell and Lange-Nielsen syndrome caused by mutation in KCNE1|Jervell and Lange-Nielsen syndrome type 2|KCNE1 Jervell and Lange-Nielsen syndrome|Jervell and Lange-Nielsen syndrome 2|JLNS2	http://purl.obolibrary.org/obo/MONDO_0012871	https://omim.org/entry/612347|http://identifiers.org/mesh/C567343	gard_rare
MONDO:0010213	biolink:Disease	xeroderma pigmentosum group E	An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer.	NCIT:C114771|DOID:0110846|Orphanet:276261|OMIM:278740|UMLS:C1848411|MESH:C564732|SCTID:56048001|GARD:0005627	mondo.json	XP, Group E|xeroderma pigmentosum 5|XP5|XPE|XP-E|xeroderma pigmentosum, group E, DDB-negative subtype|xeroderma pigmentosum, type 5|XP group E|xeroderma pigmentosum group E|xeroderma pigmentosum, complementation group type E|xeroderma pigmentosum V|xeroderma pigmentosum group type E|XPe|xeroderma pigmentosum, complementation group E	http://purl.obolibrary.org/obo/MONDO_0010213	http://identifiers.org/snomedct/56048001|https://omim.org/entry/278740|http://identifiers.org/mesh/C564732|DOID:0110846|NCIT:C114771|UMLS:C1848411	gard_rare
MONDO:0012876	biolink:Disease	heparin cofactor 2 deficiency		ICD9:286.3|OMIM:612356|MESH:C562865|SCTID:234468009|UMLS:C0398626	mondo.json	Hcf2 deficiency|thrombophilia due to heparin cofactor 2 deficiency|heparin cofactor 2 deficiency|thrombophilia 10 due to heparin cofactor II deficiency|Hcf 2 deficiency|heparin cofactor II deficiency	http://purl.obolibrary.org/obo/MONDO_0012876	http://identifiers.org/snomedct/234468009|https://omim.org/entry/612356|http://identifiers.org/mesh/C562865|UMLS:C0398626	
MONDO:0012877	biolink:Disease	major affective disorder 8		OMIM:612357|MESH:C567530	mondo.json	bipolar affective disorder|major affective disorder-8, susceptibility to|major affective disorder 8|MAJOR affective disorder 8|MAFD8	http://purl.obolibrary.org/obo/MONDO_0012877	https://omim.org/entry/612357|http://identifiers.org/mesh/C567530	
MONDO:0010212	biolink:Disease	xeroderma pigmentosum group D	Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene.	DOID:0110845|MESH:C562591|NCIT:C3967|OMIM:278730|Orphanet:276258|SCTID:68637004	mondo.json	xeroderma pigmentosum caused by mutation in ERCC2|XP, Group H|XPH|XP8|xeroderma pigmentosum, group D|xeroderma pigmentosum VIII|XP group H|XP, Group D|xeroderma pigmentosum 4|XP4 xeroderma pigmentosum VIII, formerly|XP4|xeroderma pigmentosum, complementation group D|XP4 xeroderma pigmentosum VIII|XP group D|xeroderma pigmentosum IV|xeroderma pigmentosum group D|XPD|XPDC|ERCC2 xeroderma pigmentosum|xeroderma pigmentosum, complementation group type D|xeroderma pigmentosum group type D|XP, Group H, formerly|XP-D	http://purl.obolibrary.org/obo/MONDO_0010212	https://omim.org/entry/278730|DOID:0110845|http://identifiers.org/mesh/C562591|http://identifiers.org/snomedct/68637004|NCIT:C3967	
MONDO:0010215	biolink:Disease	xeroderma pigmentosum group F	Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene.	MESH:C562592|NCIT:C3968|SCTID:42530008|OMIM:278760|Orphanet:276264|GARD:0005628|DOID:0110848	mondo.json	XP6|xeroderma pigmentosum 6|xeroderma pigmentosum, complementation group F|xeroderma pigmentosum, type F/Cockayne syndrome|xeroderma pigmentosum, group F|xeroderma pigmentosum, type 6|XP group F|xeroderma pigmentosum VI|XPF|xeroderma pigmentosum, complementation group type F|xeroderma pigmentosum group F|xeroderma pigmentosum group type F|ERCC4 xeroderma pigmentosum|XP, group F|XP-F|xeroderma pigmentosum caused by mutation in ERCC4	http://purl.obolibrary.org/obo/MONDO_0010215	http://identifiers.org/snomedct/42530008|https://omim.org/entry/278760|DOID:0110848|http://identifiers.org/mesh/C562592|NCIT:C3968	gard_rare
MONDO:0012874	biolink:Disease	porokeratosis 6, disseminated superficial actinic type		OMIM:612353|UMLS:C2676508|MESH:C567339	mondo.json	porokeratosis 6, multiple types|porokeratosis 6, disseminated superficial actinic type|porokeratosis, disseminated superficial actinic, 4|porokeratosis 6, disseminated superficial|POROK6	http://purl.obolibrary.org/obo/MONDO_0012874	https://omim.org/entry/612353|http://identifiers.org/mesh/C567339|UMLS:C2676508	
MONDO:0010214	biolink:Disease	xeroderma pigmentosum variant type	Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.	MESH:C536766|UMLS:C1848410|GARD:0005630|NCIT:C141367|Orphanet:90342|OMIM:278750|DOID:0110847	mondo.json	xeroderma pigmentosum with normal DNA repair rates|xeroderma pigmentosum variant|xeroderma pigmentosum, variant type|photosensitivity with defective DNA synthesis|XPV|xeroderma pigmentosum variant type	http://purl.obolibrary.org/obo/MONDO_0010214	http://identifiers.org/mesh/C536766|https://omim.org/entry/278750|DOID:0110847|UMLS:C1848410|NCIT:C141367|Orphanet:90342	gard_rare|ordo_disease
MONDO:0012875	biolink:Disease	inflammatory bowel disease 21	An inflammatory bowel disease that has material basis in variation in the chromosome region 18p11.	OMIM:612354|DOID:0110906|UMLS:C2676507|MESH:C567338	mondo.json	inflammatory bowel disease 21|inflammatory bowel disease type 21|IBD21	http://purl.obolibrary.org/obo/MONDO_0012875	DOID:0110906|https://omim.org/entry/612354|http://identifiers.org/mesh/C567338|UMLS:C2676507	
GO:0038065	biolink:NamedThing	collagen-activated signaling pathway	The series of molecular signals initiated by collagen binding to a cell surface receptor, and ending with the regulation of a downstream cellular process, e.g. transcription.		mondo.json	collagen-activated signalling pathway	http://purl.obolibrary.org/obo/GO_0038065		
GO:0038064	biolink:NamedThing	collagen receptor activity	Combining with a collagen and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.		mondo.json	transmembrane collagen receptor activity	http://purl.obolibrary.org/obo/GO_0038064		
MONDO:0000899	biolink:Disease	obsolete malignant epithelioid hemangioendothelioma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000899		
MONDO:0022266	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0022266		
MONDO:0022267	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0022267		
GO:1905292	biolink:NamedThing	regulation of neural crest cell differentiation	Any process that modulates the frequency, rate or extent of neural crest cell differentiation.		mondo.json		http://purl.obolibrary.org/obo/GO_1905292		
GO:0099055	biolink:NamedThing	integral component of postsynaptic membrane	The component of the postsynaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.		mondo.json		http://purl.obolibrary.org/obo/GO_0099055		
GO:1905293	biolink:NamedThing	negative regulation of neural crest cell differentiation	Any process that stops, prevents or reduces the frequency, rate or extent of neural crest cell differentiation.		mondo.json	down regulation of neural crest cell differentiation|inhibition of neural crest cell differentiation|downregulation of neural crest cell differentiation|down-regulation of neural crest cell differentiation	http://purl.obolibrary.org/obo/GO_1905293		
GO:1905294	biolink:NamedThing	positive regulation of neural crest cell differentiation	Any process that activates or increases the frequency, rate or extent of neural crest cell differentiation.		mondo.json	up-regulation of neural crest cell differentiation|up regulation of neural crest cell differentiation|activation of neural crest cell differentiation|upregulation of neural crest cell differentiation	http://purl.obolibrary.org/obo/GO_1905294		
MONDO:0009289	biolink:Disease	obsolete glycogen storage disease IC			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009289		
MONDO:0009288	biolink:Disease	glycogen storage disease Ib	A type of glycogenosis due to G6P deficiency.	UMLS:C0342749|SCTID:30102006|NCIT:C122661|GARD:0002515|SCTID:237965005|OMIM:232220|OMIM:232240|MESH:C562594|Orphanet:79259	mondo.json	GSD Ib|glucose-6-phosphate transport defect|glycogen storage disease type Ic|GSD Ic|GSD due to G6P deficiency type IB|glycogenosis due to glucose-6-phosphatase transport defect type IB|glycogen storage disease due to G6P deficiency type IB|GSD type IB|G6P deficiency type IB|glycogen storage disease type IB|G6PT deficiency|GSD1B|glycogen storage disease Ib|glycogenosis type 1b|GSD due to G6PT deficiency|glycogen storage disease type I non-a|GSD1C|GSDIb|Gsd1C|GSD type 1 non a|glycogenosis due to glucose-6-phosphatase deficiency type 1B|glycogen storage disease Id|GSD type 1b|glycogen storage disease Ic|glycogen storage disease type 1b|G6P translocase deficiency|glycogenosis type IB	http://purl.obolibrary.org/obo/MONDO_0009288	http://identifiers.org/mesh/C562594|https://omim.org/entry/232220|https://omim.org/entry/232240|http://identifiers.org/snomedct/237965005|NCIT:C122661|http://identifiers.org/snomedct/30102006|Orphanet:79259|UMLS:C0342749	ordo_clinical_subtype
MONDO:0009287	biolink:Disease	glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency.	UMLS:CN205860|GARD:0007864|UMLS:C2919796|SCTID:444707001|OMIM:232200|UMLS:CN069618|Orphanet:79258|MESH:C538655	mondo.json	hepatorenal form of glycogen storage disease|glycogenosis due to glucose-6-phosphatase deficiency type Ia|GSD due to G6P deficiency type Ia|glycogen storage disease due to G6P deficiency type Ia|glucose-6-phosphatase deficiency|hepatorenal glycogenosis|glycogen storage disease 1A|glycogen storage disease type Ia|Von Gierke disease|GSD Ia|glycogen storage disease caused by mutation in G6PC|glycogenosis due to glucose-6-phosphatase deficiency type 1a|GSDIa|GSD1A|GSD due to G6P deficiency type 1a|G6PC glycogen storage disease|G6P deficiency type 1a|glucose-6-phosphatase deficiency glycogen storage disease|GSD type 1a|glycogen storage disease Ia|glycogen storage disease type 1a|glycogenosis type Ia|GSD1|glycogen storage disease 1	http://purl.obolibrary.org/obo/MONDO_0009287	UMLS:CN205860|https://omim.org/entry/232200|http://identifiers.org/mesh/C538655|UMLS:C2919796|UMLS:CN069618|Orphanet:79258|http://identifiers.org/snomedct/444707001	ordo_clinical_subtype
MONDO:0022263	biolink:Disease	obsolete congenital hepatic fibrosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022263		
MONDO:0009286	biolink:Disease	gluteal muscles, absence of		OMIM:231970|MESH:C535561|GARD:0008518	mondo.json	congenital absence of gluteal muscles|gluteal muscle, absence of|gluteal muscles, absence of|absence of gluteal muscle	http://purl.obolibrary.org/obo/MONDO_0009286	https://omim.org/entry/231970|http://identifiers.org/mesh/C535561	gard_rare
MONDO:0010286	biolink:Disease	syndromic X-linked intellectual disability Siderius type		Orphanet:85287|MESH:C537333|UMLS:C1846055|GARD:0009704|OMIM:300263|DOID:0060812	mondo.json	Siderius Hamel syndrome|Siderius X-linked intellectual disability syndrome|X-linked intellectual disability Hamel type|intellectual developmental disorder, X-linked, syndromic, Siderius type, X-linked recessive|X-linked mental retardation Hamel type|mental retardation X-linked Siderius type|X-linked intellectual disability, Siderius type|MRXSSD|intellectual deficit X-linked Siderius type|mental retardation syndrome, X-linked, Siderius type|mental retardation, X-linked, syndromic, Siderius type|intellectual disability syndrome, X-linked, Siderius type|syndromic X-linked intellectual disability Siderius type|intellectual disability X-linked Siderius type|Siderius-Hamel syndrome|intellectual disability, X-linked, syndromic, Siderius type|Siderius X-linked mental retardation syndrome	http://purl.obolibrary.org/obo/MONDO_0010286	http://identifiers.org/mesh/C537333|Orphanet:85287|https://omim.org/entry/300263|DOID:0060812|UMLS:C1846055	ordo_malformation_syndrome
MONDO:0009285	biolink:Disease	gamma-glutamyl transpeptidase deficiency	Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.	DOID:0111257|SCTID:78586005|OMIM:231950|MESH:C536836|UMLS:C0268524|ICD9:270.8|GARD:0010099|Orphanet:33573	mondo.json	gamma-glutamyltranspeptidase deficiency|GGT1 deficiency|GGT deficiency|glutathioninuria|glutathionuria|inborn glutathione hydrolase activity disorder|GTG deficiency|inborn error of glutathione hydrolase activity|rare inborn error of glutathione hydrolase activity|gamma-glutamyltransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0009285	UMLS:C0268524|Orphanet:33573|https://omim.org/entry/231950|DOID:0111257|http://identifiers.org/mesh/C536836|http://identifiers.org/snomedct/78586005	ordo_disease
MONDO:0010285	biolink:Disease	syndromic X-linked intellectual disability Abidi type	X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations.	MESH:C535556|OMIM:300262|Orphanet:85273|DOID:0060818|GARD:0009157|UMLS:C1846056	mondo.json	short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes|syndromic X-linked intellectual disability Abidi type|MRXSAB|syndromic X-linked mental retardation Abidi type|ABIDI X-linked mental retardation syndrome|intellectual disability, X-linked syndromic, Abidi type|intellectual disability X-linked Abidi type|mental retardation, X-linked syndromic, Abidi type|X-linked intellectual disability, Abidi type|ABIDI X-linked intellectual disability syndrome|mental retardation, X-linked, syndromic, Abidi type|intellectual disability, X-linked, syndromic, Abidi type	http://purl.obolibrary.org/obo/MONDO_0010285	Orphanet:85273|http://identifiers.org/mesh/C535556|https://omim.org/entry/300262|DOID:0060818|UMLS:C1846056	ordo_malformation_syndrome
HGNC:11642	biolink:NamedThing	ZEB1			mondo.json		http://identifiers.org/hgnc/11642		
MONDO:0009284	biolink:Disease	glutathione synthetase deficiency without 5-oxoprolinuria		Orphanet:289849|MESH:C565545|UMLS:C1856399|OMIM:231900	mondo.json	GSSDE|glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to|hemolytic anemia due to glutathione synthetase deficiency	http://purl.obolibrary.org/obo/MONDO_0009284	Orphanet:289849|https://omim.org/entry/231900|UMLS:C1856399|http://identifiers.org/mesh/C565545	ordo_clinical_subtype
MONDO:0010288	biolink:Disease	adrenomyodystrophy	Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.	MESH:C538051|UMLS:C1846044|SCTID:763311001|Orphanet:977|GARD:0000562|OMIM:300270	mondo.json	adrenomyodystrophy	http://purl.obolibrary.org/obo/MONDO_0010288	http://identifiers.org/mesh/C538051|http://identifiers.org/snomedct/763311001|Orphanet:977|https://omim.org/entry/300270|UMLS:C1846044	ordo_disease
HGNC:11641	biolink:NamedThing	TCF7L2			mondo.json		http://identifiers.org/hgnc/11641		
MONDO:0010287	biolink:Disease	hereditary spastic paraplegia 16	A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2.	OMIM:300266|DOID:0110769|MESH:C536643|UMLS:C1846046|Orphanet:100997|GARD:0009585	mondo.json	spastic paraplegia 16|spastic paraplegia 16, X-linked|X-linked spastic paraplegia type 16|hereditary spastic paraplegia type 16|spastic paraplegia 16, X-linked, complicated, X-linked recessive|SPG16|X-linked spastic paraplegia 16	http://purl.obolibrary.org/obo/MONDO_0010287	Orphanet:100997|http://identifiers.org/mesh/C536643|https://omim.org/entry/300266|DOID:0110769|UMLS:C1846046	ordo_disease
MONDO:0009283	biolink:Disease	glutaric acidemia type 3	Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive.	ICD9:270.2|UMLS:C0342873|GARD:0012469|SCTID:238070003|OMIM:231690|ICD10CM:E72.3|MESH:C562818|Orphanet:35706	mondo.json	GA III|glutaric aciduria (disease) caused by mutation in SUGCT|glutaric aciduria type III|Ga 3|glutaric aciduria type 3|glutaric aciduria III|glutaryl-CoA oxidase deficiency|GA3|glutaryl-Coa oxidase deficiency|glutaric acidemia type 3|SUGCT glutaric aciduria (disease)|glutaric aciduria 3|glutaric acidemia type III	http://purl.obolibrary.org/obo/MONDO_0009283	http://identifiers.org/mesh/C562818|Orphanet:35706|https://omim.org/entry/231690|UMLS:C0342873|http://identifiers.org/snomedct/238070003	ordo_disease|gard_rare
MONDO:0009282	biolink:Disease	multiple acyl-CoA dehydrogenase deficiency	A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.	OMIM:231680|DOID:0060358|UMLS:C0268596|NCIT:C84907|GARD:0006523|Orphanet:26791	mondo.json	glutaric acidemia type 2|glutaric acidemia type II|glutaric acidemia 2|multiple acyl Coenzyme A dehydrogenase deficiency|ethylmalonic-Adipicaciduria|glutaric acidemia IIC|glutaric acidemia 2C|glutaric aciduria type 2|MAD deficiency|glutaric acidemia IIB|glutaric acidemia 2B|Ga 2|glutaric acidemia IIA|glutaric acidemia 2A|EMA|Etfa deficiency|multiple acyl-CoA dehydrogenase deficiency|Etfdh deficiency|Etfb deficiency|electron transfer flavoprotein deficiency|glutaric aciduria 2|MADD|electron transfer flavoprotein ubiquinone oxidoreductase deficiency|glutaric aciduria, type 2	http://purl.obolibrary.org/obo/MONDO_0009282	NCIT:C84907|UMLS:C0268596|https://omim.org/entry/231680|Orphanet:26791|DOID:0060358	ordo_disease
HGNC:11647	biolink:NamedThing	TCIRG1			mondo.json		http://identifiers.org/hgnc/11647		
MONDO:0010289	biolink:Disease	intellectual disability, X-linked 72		MESH:C564547|OMIM:300271|UMLS:C1846038	mondo.json	intellectual disability, X-linked type 72|MRX72|mental retardation, X-linked 72|mental retardation, X-linked type 72|intellectual developmental disorder, X-linked 72, X-linked recessive|intellectual disability, X-linked 72	http://purl.obolibrary.org/obo/MONDO_0010289	http://identifiers.org/mesh/C564547|https://omim.org/entry/300271|UMLS:C1846038	
MONDO:0009281	biolink:Disease	glutaryl-CoA dehydrogenase deficiency	Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.	Orphanet:25|DOID:0111254|NCIT:C99101|ICD10CM:E72.3|OMIM:231670|UMLS:C0268595|MESH:C536833|GARD:0006522|SCTID:76175005	mondo.json	glutaric acidemia, type 1|glutaricaciduria, type I|GA1|GCDHD|glutaric aciduria type 1|glutaryl-CoA dehydrogenase deficiency|Ga 1|glutaric acidemia type I|glutaryl-coenzyme A dehydrogenase deficiency|glutaric acidemia 1|glutaric acidemia I|glutaric acidemia type 1|glutaric aciduria type I|glutaric aciduria, type 1|glutaric aciduria 1	http://purl.obolibrary.org/obo/MONDO_0009281	Orphanet:25|UMLS:C0268595|https://omim.org/entry/231670|DOID:0111254|NCIT:C99101|http://identifiers.org/mesh/C536833|http://identifiers.org/snomedct/76175005	ordo_disease
MONDO:0009280	biolink:Disease	monosodium glutamate sensitivity		ICD9:989.89|OMIM:231630|UMLS:C0008127|MESH:C562377|SCTID:56344009	mondo.json	monosodium glutamate sensitivity|Chinese restaurant syndrome	http://purl.obolibrary.org/obo/MONDO_0009280	http://identifiers.org/snomedct/56344009|https://omim.org/entry/231630|UMLS:C0008127|http://identifiers.org/mesh/C562377	
MONDO:0010280	biolink:Disease	ptosis, hereditary congenital 2		MESH:C564553|UMLS:C1846128|OMIM:300245	mondo.json	ptosis, hereditary congenital 2|Ptos2|ptosis, X-linked|ptosis, hereditary congenital 2, X-linked dominant|ptosis, hereditary congenital type 2	http://purl.obolibrary.org/obo/MONDO_0010280	http://identifiers.org/mesh/C564553|https://omim.org/entry/300245|UMLS:C1846128	
MONDO:0010282	biolink:Disease	mycobacterium tuberculosis, susceptibility to, X-linked		OMIM:300259	mondo.json	mycobacterium tuberculosis, susceptibility, X-linked|MTBSX|mycobacterium tuberculosis, susceptibility to, X-linked	http://purl.obolibrary.org/obo/MONDO_0010282	https://omim.org/entry/300259	predisposition
MONDO:0010281	biolink:Disease	Danon disease	Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.	EFO:1001333|Orphanet:34587|UMLS:C0878677|MESH:D052120|SCTID:419097006|OMIM:300257|GARD:0009730|NCIT:C84735|ICD9:759.89|DOID:0050437	mondo.json	pseudoglycogenosis 2|lysosomal glycogen storage disease with normal acid maltase activity|lysosomal glycogen storage disease without acid maltase deficiency (formerly)|glycogen storage disease limited to the heart|vacuolar cardiomyopathy and myopathy X-linked|GSD IIb, formerly|X-linked vacuolar cardiomyopathy and myopathy|Danon disease|GSD IIb|pseudoglycogenosis II|GSD due to LAMP-2 deficiency|glycogen storage disease IIb|glycogen storage cardiomyopathy|GSD2B (formerly)|LAMP2 lysosomal glycogen storage disease|ANTOPOL disease|glycogen storage disease due to LAMP-2 deficiency|glycogenosis due to LAMP-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogen storage disease type 2b (formerly)|lysosomal glycogen storage disease caused by mutation in LAMP2|lysosomal glycogen storage disease without acid maltase deficiency|Antopol disease|vacuolar cardiomyopathy and myopathy, X-linked|Danon disease, X-linked dominant|glycogen storage disease type IIb	http://purl.obolibrary.org/obo/MONDO_0010281	DOID:0050437|http://identifiers.org/mesh/D052120|https://omim.org/entry/300257|UMLS:C0878677|NCIT:C84735|Orphanet:34587|http://identifiers.org/snomedct/419097006	ordo_disease|gard_rare
MONDO:0010284	biolink:Disease	Armfield syndrome	X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.	DOID:0050764|OMIM:300261|MESH:C564551|SCTID:719017003|Orphanet:85276|UMLS:C1846057	mondo.json	mental retardation syndrome, X-linked, armfield type, X-linked recessive|intellectual disability syndrome, X-linked, Armfield type|Armfield X-linked mental retardation syndrome|syndromic X-linked mental retardation Armfield type|X-linked intellectual disability, Armfield type|intellectual developmental disorder, X-linked, syndromic, Armfield type, X-linked recessive|intellectual disability, X-linked, syndromic, Armfield type|Armfield X-linked intellectual disability syndrome|mental retardation, X-linked, syndromic, Armfield type|MRXSA|mental retardation syndrome, X-linked, Armfield type|Armfield syndrome|syndromic X-linked intellectual disability Armfield type	http://purl.obolibrary.org/obo/MONDO_0010284	Orphanet:85276|http://identifiers.org/snomedct/719017003|DOID:0050764|http://identifiers.org/mesh/C564551|https://omim.org/entry/300261|UMLS:C1846057	ordo_malformation_syndrome
MONDO:0010283	biolink:Disease	syndromic X-linked intellectual disability Lubs type	Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.	DOID:0060799|GARD:0009781|Orphanet:1762|SCTID:702816000|DECIPHER:45|NCIT:C126747|UMLS:C1846058|ICD9:758.89|MESH:C537723|OMIM:300260	mondo.json	MRXSL|Lubs X-linked mental retardation syndrome|MECP2 Duplication syndrome|Lubs X-linked intellectual disability syndrome|intellectual developmental disorder, X-linked syndromic, Lubs type, X-linked recessive|MECP2 duplication syndrome|Lubs X-linked mental retardation syndrome (formerly)|syndromic X-linked intellectual disability Lubs type|mental retardation, X-linked, with recurrent respiratory infections|intellectual disability, X-linked, with recurrent respiratory infections|X-linked intellectual disability-hypotonia-recurrent infections syndrome|intellectual disability, X-linked, Lubs type (formerly)|intellectual disability, X-linked, syndromic, Lubs type|XLMR syndrome, Lubs type|telomeric duplication Xq|mental retardation, X-linked, syndromic, Lubs type|mental retardation, X-linked, Lubs type (formerly)|distal duplication Xq|Lubs X-linked intellectual disability syndrome (formerly)|Xq28 (MECP2) duplication|trisomy Xq28	http://purl.obolibrary.org/obo/MONDO_0010283	Orphanet:1762|http://identifiers.org/mesh/C537723|https://omim.org/entry/300260|NCIT:C126747|DOID:0060799|http://identifiers.org/snomedct/702816000|UMLS:C1846058	ordo_malformation_syndrome
HGNC:23631	biolink:NamedThing	NPSR1			mondo.json		http://identifiers.org/hgnc/23631		
HP:0001417	biolink:PhenotypicFeature	X-linked inheritance	A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.	UMLS:C0241764|MSH:D050172|SNOMEDCT_US:263934009	mondo.json	X-linked form|X-linked	http://purl.obolibrary.org/obo/HP_0001417		
MONDO:0009299	biolink:Disease	46 XX gonadal dysgenesis	46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.	NCIT:C120197|MESH:D023961|UMLS:C0949595|DOID:14450|SCTID:95198001|OMIMPS:233300|Orphanet:243	mondo.json	XX gonadal dysgenesis|46,XX ovarian dysgenesis|follicular stimulating hormone-resistant ovaries|46,XX gonadal dysgenesis|hypergonadotropic ovarian dysgenesis|ovarian dysgenesis|FSH-RO|XX-GD|XX female gonadal dysgenesis|46,XX pure gonadal dysgenesis|46,XX complete gonadal dysgenesis	http://purl.obolibrary.org/obo/MONDO_0009299	http://identifiers.org/mesh/D023961|https://omim.org/phenotypicSeries/PS233300|UMLS:C0949595|NCIT:C120197|http://identifiers.org/snomedct/95198001|Orphanet:243|DOID:14450	ordo_malformation_syndrome
HP:0001419	biolink:PhenotypicFeature	X-linked recessive inheritance	A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.	UMLS:C1845977	mondo.json	X-linked recessive	http://purl.obolibrary.org/obo/HP_0001419		
MONDO:0009298	biolink:Disease	GOMBO syndrome		MESH:C537284|UMLS:C1856274|GARD:0002537|OMIM:233270	mondo.json	GOMBO syndrome|Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia	http://purl.obolibrary.org/obo/MONDO_0009298	https://omim.org/entry/233270|http://identifiers.org/mesh/C537284|UMLS:C1856274	
MONDO:0009297	biolink:Disease	familial renal glucosuria	Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2).	DOID:9432|MedDRA:10038457|SCTID:267430007|MESH:D006030|UMLS:C3245525|UMLS:C0017980|GARD:0007548|OMIM:233100|EFO:1001151|Orphanet:69076|ICD9:271.4	mondo.json	Glys1|GLYS|renal glycosuria|glycosuria, renal|renal diabetes|familial renal glucosuria|renal glucosuria|SGLT2 deficiency	http://purl.obolibrary.org/obo/MONDO_0009297	https://omim.org/entry/233100|DOID:9432|UMLS:C3245525|UMLS:C0017980|Orphanet:69076|http://identifiers.org/mesh/D006030|http://identifiers.org/snomedct/267430007	gard_rare|ordo_disease
MONDO:0010275	biolink:Disease	spondyloepimetaphyseal dysplasia, Bieganski type	A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.	UMLS:C1846148|Orphanet:83629|OMIM:300232|Orphanet:168448|ICD10CM:G11.4|MESH:C567065|MESH:C536671|GARD:0004891	mondo.json	LKMCD|SEMD, X-linked, with mental deterioration|hypomyelination-spondyloepimetaphyseal dysplasia syndrome|SEMD X-linked with mental deterioration|leukoencephalopathy-SEMD syndrome|leukoencephalopathy with metaphyseal chondrodysplasia|leukoencephalopathy-metaphyseal chondrodysplasia syndrome|spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive|spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration|H-SMD|spondyloepimetaphyseal dysplasia x-linked with mental deterioration	http://purl.obolibrary.org/obo/MONDO_0010275	http://identifiers.org/mesh/C567065|http://identifiers.org/mesh/C536671|https://omim.org/entry/300232|Orphanet:83629|UMLS:C1846148	ordo_disease|ordo_disorder
HGNC:11654	biolink:NamedThing	TCOF1			mondo.json		http://identifiers.org/hgnc/11654		
HGNC:11653	biolink:NamedThing	TCN2			mondo.json		http://identifiers.org/hgnc/11653		
MONDO:0009296	biolink:Disease	glycoprotein storage disease		UMLS:C1856275|MESH:C565538|SCTID:7810004|UMLS:C0268220|OMIM:232900	mondo.json	glycoprotein storage disorder|glycoprotein storage disease	http://purl.obolibrary.org/obo/MONDO_0009296	UMLS:C0268220|https://omim.org/entry/232900|UMLS:C1856275|http://identifiers.org/snomedct/7810004|http://identifiers.org/mesh/C565538	
MONDO:0010274	biolink:Disease	testicular germ cell tumor 1		UMLS:C1846164|OMIM:300228|MESH:C564559	mondo.json	TGCT1|testicular germ cell tumor 1|testicular germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0010274	http://identifiers.org/mesh/C564559|https://omim.org/entry/300228|UMLS:C1846164	
MONDO:0010277	biolink:Disease	syndromic X-linked intellectual disability Shashi type	X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.	Orphanet:85286|SCTID:718900002|GARD:0004119|OMIM:300238|UMLS:C1846145|UMLS:C4305085|MESH:C537135|DOID:0060826	mondo.json	intellectual disability X-linked syndromic 11|MRXS11|mental retardation, X-linked, syndromic 11|mental retardation, X-linked, syndromic 11, Shashi type|mental retardation, X-linked, Shashi type|Shashi X-linked mental retardation syndrome|mental retardation X-linked Shashi type|intellectual disability, X-linked, Shashi type|X-linked intellectual disability, Shashi type|X-linked intellectual disability Shashi type|mental retardation X-linked syndromic 11|intellectual disability, X-linked, syndromic 11|intellectual disability, X-linked, syndromic 11, Shashi type|Shashi X-linked intellectual disability syndrome|syndromic X-linked intellectual disability type 11|X-linked mental retardation Shashi type|SMRXS|intellectual disability X-linked Shashi type|intellectual developmental disorder, syndromic 11, Shashi type, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0010277	UMLS:C1846145|UMLS:C4305085|http://identifiers.org/mesh/C537135|Orphanet:85286|http://identifiers.org/snomedct/718900002|https://omim.org/entry/300238|DOID:0060826	ordo_malformation_syndrome
MONDO:0009295	biolink:Disease	glycogen storage disease VII	Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.	OMIM:232800|UMLS:C0017926|Orphanet:371|NCIT:C118437|MESH:D006014|MedDRA:10053241|SCTID:89597008|DOID:11721|GARD:0005686	mondo.json	glycogen storage disease caused by mutation in PFKM|glycogen storage disease due to muscle phosphofructokinase deficiency|glycogenosis due to muscle phosphofructokinase deficiency|Tarui disease|muscle phosphofructokinase deficiency|glycogen storage disease type VII|GSDVII|GSD type 7|GSD7|Pfkm deficiency|GSD type VII|phosphofructokinase deficiency|GSD 7|phosphofructokinase myopathy|glycogen storage disease type 7|glycogen storage disease 7|GSD due to muscle phosphofructokinase deficiency|PFKM glycogen storage disease|glycogen storage disease VII|glycogen storage disease, type VII|glycogenosis type 7|glycogenosis type VII	http://purl.obolibrary.org/obo/MONDO_0009295	DOID:11721|UMLS:C0017926|http://identifiers.org/snomedct/89597008|https://omim.org/entry/232800|NCIT:C118437|Orphanet:371|http://identifiers.org/mesh/D006014	ordo_disease
MONDO:0009294	biolink:Disease	glycogen storage disease VI	Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.	MESH:D006013|NCIT:C126875|UMLS:C0017925|DOID:2754|GARD:0006529|MedDRA:10053240|Orphanet:369|OMIM:232700|SCTID:29291001	mondo.json	GSD type 6|glycogenosis type VI|liver glycogen phosphorylase deficiency|PYGL glycogen storage disease|GSD due to liver glycogen phosphorylase deficiency|glycogen storage disease type 6|phosphorylase deficiency glycogen-storage disease of liver|glycogenosis type 6|glycogen storage disease due to liver glycogen phosphorylase deficiency|GSD type VI|hers disease|hepatic glycogen phosphorylase deficiency|glycogen storage disease caused by mutation in PYGL|hepatic phosphorylase deficiency|hers' disease|hepatophosphorylase deficiency glycogenosis|glycogenosis due to liver glycogen phosphorylase deficiency|GSD6|GSD 6|glycogen storage disease 6|glycogen storage disease VI|glycogen storage disease type VI	http://purl.obolibrary.org/obo/MONDO_0009294	http://identifiers.org/snomedct/29291001|UMLS:C0017925|https://omim.org/entry/232700|Orphanet:369|http://identifiers.org/mesh/D006013|NCIT:C126875|DOID:2754	ordo_disease
MONDO:0010276	biolink:Disease	radioulnar synostosis, radial ray abnormalities, and severe malformations in the male		MESH:C564557|UMLS:C1846147|OMIM:300233	mondo.json	radioulnar synostosis, radial RAY abnormalities, and severe malformations in the MALE	http://purl.obolibrary.org/obo/MONDO_0010276	http://identifiers.org/mesh/C564557|https://omim.org/entry/300233|UMLS:C1846147	
MONDO:0010279	biolink:Disease	terminal osseous dysplasia-pigmentary defects syndrome	Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.	UMLS:C1846129|Orphanet:88630|MESH:C564554|OMIM:300244	mondo.json	terminal osseous dysplasia|terminal osseous dysplasia, X-linked dominant|terminal osseous dysplasia and pigmentary defects|TOD|osseous dysplasia, digital, with Facial pigmentary defects and multiple frenula|Odpd|Odpf syndrome	http://purl.obolibrary.org/obo/MONDO_0010279	UMLS:C1846129|Orphanet:88630|http://identifiers.org/mesh/C564554|https://omim.org/entry/300244	ordo_malformation_syndrome
MONDO:0009293	biolink:Disease	glycogen storage disease V	Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance.	MedDRA:10018462|MESH:D006012|DOID:2746|GARD:0006528|OMIM:232600|Orphanet:368|SCTID:55912009|UMLS:C0017924|NCIT:C84738	mondo.json	glycogenosis due to muscle glycogen phosphorylase deficiency|GSD type V|GSD type 5|McArdle's disease|PYGM glycogen storage disease|McArdle disease|Mcardle disease|GSD due to muscle glycogen phosphorylase deficiency|glycogen storage disease type 5|glycogenosis type V|glycogen storage disease, type V|muscle glycogen phosphorylase deficiency|glycogenosis type 5|glycogen storage disease caused by mutation in PYGM|glycogen storage disease type V|GSD 5|glycogen storage disease due to muscle glycogen phosphorylase deficiency|GSD5|myophosphorylase deficiency|glycogen storage disease 5|glycogen storage disease V|Pygm deficiency|McArdle type glycogen storage disease	http://purl.obolibrary.org/obo/MONDO_0009293	NCIT:C84738|UMLS:C0017924|https://omim.org/entry/232600|Orphanet:368|http://identifiers.org/mesh/D006012|http://identifiers.org/snomedct/55912009|DOID:2746	ordo_disease
MONDO:0009292	biolink:Disease	glycogen storage disease due to glycogen branching enzyme deficiency	Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases.	MedDRA:10053249|ICD9:277.6|NCIT:C84737|UMLS:C0017923|UMLS:C1563715|Orphanet:367|DOID:2750|GARD:0002520|UMLS:CN204783|SCTID:124267007|OMIM:232500	mondo.json	GSD type 4|GSD IV, neuromuscular form, adult, with isolated myopathy|glycogen storage disease, type IV|Gbe1 deficiency|cirrhosis, familial, with deposition of abnormal glycogen|GSD IV, neuromuscular form, childhood|glycogenosis 4|glycogenosis type IV|brancher deficiency glycogenosis|glycogenosis due to glycogen branching enzyme deficiency|glycogenosis type 4|glycogen storage disease type 4|glycogen storage disease IV|Andersen's disease|GSD IV|GSD IV, neuromuscular form, fatal perinatal|branching-transferase deficiency glycogenosis|GSD 4|GBE1 glycogen storage disease|GSD type IV|glycogen storage disease 4|GSD IV, neuromuscular form, congenital|GSD due to glycogen branching enzyme deficiency|brancher deficiency|GSD IV, classic hepatic|glycogen storage disease type IV|glycogen branching enzyme deficiency|Andersen disease|GSD4|amylopectinosis|deficiency of 1,4-alpha-glucan branching enzyme|glycogen storage disease due to glycogen branching enzyme deficiency|glycogen storage disease caused by mutation in GBE1|GSD IV, nonprogressive hepatic	http://purl.obolibrary.org/obo/MONDO_0009292	UMLS:CN204783|NCIT:C84737|UMLS:C0017923|https://omim.org/entry/232500|http://identifiers.org/snomedct/124267007|Orphanet:367|DOID:2750	ordo_disease
MONDO:0010278	biolink:Disease	Christianson syndrome	A very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.	DOID:0060825|ICD9:759.89|Orphanet:85278|GARD:0010572|SCTID:702354007|OMIM:300243|MESH:C567484|UMLS:C2678194	mondo.json	intellectual disability, X-linked syndromic, Christianson type|MRXSCH|mental retardation, microcephaly, epilepsy, and ataxia syndrome|MRXS Christianson|intellectual disability, X-linked, syndromic, Christianson type|X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome|Angelman-like syndrome x-linked|intellectual disability, microcephaly, epilepsy, and ataxia syndrome|intellectual developmental disorder, X-linked syndromic, Christianson type|Angelman-like syndrome, X-linked|X-linked Angelman-like syndrome|mental retardation, X-linked, syndromic, Christianson type|X-linked intellectual disability, South African type|intellectual disability x-linked syndromic Christianson type|intellectual disability microcephaly epilepsy and ataxia syndrome|mental retardation, X-linked syndromic, Christianson type|X-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy|Christianson syndrome	http://purl.obolibrary.org/obo/MONDO_0010278	UMLS:C2678194|http://identifiers.org/mesh/C567484|Orphanet:85278|http://identifiers.org/snomedct/702354007|https://omim.org/entry/300243|DOID:0060825	gard_rare|ordo_malformation_syndrome
MONDO:0009291	biolink:Disease	glycogen storage disease III	Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.	DOID:2748|MESH:D006010|UMLS:C1968741|GARD:0009442|OMIM:232400|Orphanet:366|MedDRA:10053250|SCTID:66937008|NCIT:C84736|UMLS:CN204781|UMLS:C0017922	mondo.json	GSD type 3|glycogenosis type III|glycogen storage disease IIID|glycogen storage disease caused by mutation in AGL|glycogen storage disease IIIC|glycogen storage disease due to glycogen debranching enzyme deficiency|Agl deficiency|glycogen storage disease type III|glycogen storage disease IIIb|glycogen storage disease, type III|glycogen storage disease IIIa|GDE deficiency|Gde deficiency|amylo 1,6 glucosidase deficiency|glycogenosis due to glycogen debranching enzyme deficiency|Cori disease|glycogenosis type 3|glycogen storage disease III|glycogen storage disease type 3|Cori-Forbes disease|deficiency of dextrin|AGL glycogen storage disease|glycogen storage disease 3|GSD due to glycogen debranching enzyme deficiency|glycogen Debrancher deficiency|GSDIII|limit dextrinosis|amylo-1,6-glucosidase deficiency|Forbes disease|deficiency of debranching enzyme|GSD3	http://purl.obolibrary.org/obo/MONDO_0009291	NCIT:C84736|UMLS:CN204781|UMLS:C0017922|http://identifiers.org/snomedct/66937008|https://omim.org/entry/232400|Orphanet:366|http://identifiers.org/mesh/D006010|DOID:2748	ordo_disease
MONDO:0009290	biolink:Disease	glycogen storage disease II	Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal.	NCIT:C84734|GARD:0002503|SCTID:274864009|GARD:0005714|DOID:2752|Orphanet:365|UMLS:C0017921|MedDRA:10053185|UMLS:C1968741|OMIM:232300	mondo.json	glycogenosis, generalized, Cardiac form|deficiency of alpha-glucosidase|glycogen storage disease caused by mutation in GAA|deficiency of glucoamylase|glucosidase acid-1,4-alpha deficiency|GSD2|Pompe disease|GAA deficiency|Cardiomegalia Glycogenica diffusa|lysosomal alpha-1,4-glucosidase deficiency|glycogen storage disease due to acid maltase deficiency|generalized glycogenosis|glycogenosis type 2|deficiency of maltase|GSD type II|glycogenosis due to acid maltase deficiency|Alpha-1,4-glucosidase deficiency|glycogen storage disease type 2|GSD II|Alpha-1,4-glucosidase acid deficiency|GSD 2|acid maltase deficiency|GAA glycogen storage disease|glycogen storage disease 2|glycogen storage disease type II|Aglucosidase alfa|glycogen storage disease II|glycogenosis, type 2|deficiency of lysosomal alpha-glucosidase|GSD type 2|Pompe's disease|glycogenosis type II|glycogen storage disease, type II|acid maltase deficiency disease|GSD due to acid maltase deficiency	http://purl.obolibrary.org/obo/MONDO_0009290	UMLS:C0017921|https://omim.org/entry/232300|Orphanet:365|DOID:2752|http://identifiers.org/snomedct/274864009|UMLS:C1968741|NCIT:C84734	gard_rare|clingen|ordo_disease
IAO:0000600	biolink:NamedThing	elucidation			mondo.json		http://purl.obolibrary.org/obo/IAO_0000600		
IAO:0000601	biolink:NamedThing	has associated axiom(nl)			mondo.json		http://purl.obolibrary.org/obo/IAO_0000601		
MONDO:0010271	biolink:Disease	X-linked myotubular myopathy-abnormal genitalia syndrome	X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.	Orphanet:456328|MESH:C564561|UMLS:C1846169|OMIM:300219	mondo.json	myotubular myopathy with abnormal genital development|Xq28 contiguous gene deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0010271	http://identifiers.org/mesh/C564561|https://omim.org/entry/300219|Orphanet:456328|UMLS:C1846169	ordo_disease
MONDO:0010270	biolink:Disease	syndromic X-linked intellectual disability 7	Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers.	Orphanet:85274|MESH:C537449|UMLS:C4304916|DOID:0060808|SCTID:719160009|OMIM:300218|GARD:0009156|UMLS:C1846170	mondo.json	MRXS7|intellectual disability, X-linked syndromic 7|mental retardation, X-linked syndromic 7|Ahmad X-linked mental retardation syndrome|Ahmad X-linked intellectual disability syndrome|X-linked intellectual disability, Ahmad type|intellectual disability, X-linked, syndromic 7|mental retardation X-linked syndromic 7|intellectual disability X-linked syndromic 7|mental retardation, obesity, hypogonadism, and tapering fingers|syndromic X-linked intellectual disability type 7|intellectual disability, obesity, hypogonadism, and tapering fingers|mental retardation, X-linked, syndromic 7	http://purl.obolibrary.org/obo/MONDO_0010270	http://identifiers.org/snomedct/719160009|Orphanet:85274|http://identifiers.org/mesh/C537449|UMLS:C4304916|https://omim.org/entry/300218|DOID:0060808|UMLS:C1846170	ordo_malformation_syndrome
MONDO:0010273	biolink:Disease	lymphoma, Hodgkin, X-linked pseudoautosomal		OMIM:300221|MESH:C538326|GARD:0009899	mondo.json	lymphoma, Hodgkin, X-linked pseudoautosomal|Hodgkin disease susceptibility, pseudoautosomal|Hodgkin disease, X-linked Pseudoautosomal	http://purl.obolibrary.org/obo/MONDO_0010273	http://identifiers.org/mesh/C538326|https://omim.org/entry/300221	
MONDO:0010272	biolink:Disease	obsolete syndromic X-linked intellectual disability type 10			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010272		
GO:0002089	biolink:NamedThing	lens morphogenesis in camera-type eye	The process in which the anatomical structures of the lens are generated and organized. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus.		mondo.json	lens morphogenesis in camera-style eye|lens morphogenesis	http://purl.obolibrary.org/obo/GO_0002089		
GO:0014070	biolink:NamedThing	response to organic cyclic compound	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus.		mondo.json	response to organic cyclic substance	http://purl.obolibrary.org/obo/GO_0014070		
IAO:0000602	biolink:NamedThing	has associated axiom(fol)			mondo.json		http://purl.obolibrary.org/obo/IAO_0000602		
IAO:0000603	biolink:NamedThing	is allocated id range	Relates an ontology IRI to an (inclusive) range of IRIs in an OBO name space. The range is give as, e.g. "IAO_0020000-IAO_0020999"		mondo.json		http://purl.obolibrary.org/obo/IAO_0000603		
GO:0002087	biolink:NamedThing	regulation of respiratory gaseous exchange by nervous system process	A process carried out by the nervous system that is required for the proper control of respiratory gaseous exchange. This process occurs in the respiratory center of the brain in vertebrates.		mondo.json	neurological control of breathing|regulation of respiratory gaseous exchange by neurological system process	http://purl.obolibrary.org/obo/GO_0002087		
MONDO:0009269	biolink:Disease	geleophysic dysplasia 1	Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene.	UMLS:C3278147|DOID:0111725|OMIM:231050	mondo.json	GPHYSD1|ADAMTSL2 geleophysic dysplasia|Geleophysic dysplasia type 1|geleophysic dysplasia caused by mutation in ADAMTSL2|GELEOPHYSIC dysplasia 1|geleophysic dysplasia 1	http://purl.obolibrary.org/obo/MONDO_0009269	UMLS:C3278147|DOID:0111725|https://omim.org/entry/231050	
GO:0002088	biolink:NamedThing	lens development in camera-type eye	The process whose specific outcome is the progression of the lens over time, from its formation to the mature structure. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus.		mondo.json	lens development in camera-style eye|lens development	http://purl.obolibrary.org/obo/GO_0002088		
MONDO:0009268	biolink:Disease	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.	GARD:0002445|UMLS:C1856476|OMIM:231005|Orphanet:2072|GARD:0012504|UMLS:C2931585|MESH:C565553	mondo.json	pseudo Gaucher disease|Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome|Gaucher-like disease|Gaucher disease, type 3C|cardiovascular Gaucher disease|Gaucher disease type 3C|Gaucher disease - ophthalmoplegia - cardiovascular calcification|Gaucher disease, type IIIC	http://purl.obolibrary.org/obo/MONDO_0009268	http://identifiers.org/mesh/C565553|UMLS:C2931585|https://omim.org/entry/231005|Orphanet:2072|UMLS:C1856476	ordo_clinical_subtype|gard_rare
MONDO:0009267	biolink:Disease	Gaucher disease type III	Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.	GARD:0002443|Orphanet:77261|OMIM:231000|DOID:0110959|SCTID:5963005	mondo.json	Gaucher disease, chronic neuronopathic type|GD III|Gaucher disease, type 3|Gaucher's disease type III|Gaucher disease, type 3B|Gaucher disease, Norrbottnian type|Gaucher disease, type 3A|Gaucher disease, juvenile and adult, cerebral|Gaucher disease type III|Gaucher disease, Subacute neuronopathic type|Gaucher disease type 3|Gaucher disease, subacute neuronopathic type|Gd 3|Gaucher disease, type III|cerebral juvenile and adult form of Gaucher disease|chronic neuronopathic Gaucher disease	http://purl.obolibrary.org/obo/MONDO_0009267	http://identifiers.org/snomedct/5963005|DOID:0110959|Orphanet:77261|https://omim.org/entry/231000	ordo_clinical_subtype
GO:0002082	biolink:NamedThing	regulation of oxidative phosphorylation	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis.		mondo.json	OXPHOS	http://purl.obolibrary.org/obo/GO_0002082		
MONDO:0009266	biolink:Disease	Gaucher disease type II	Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.	GARD:0002442|SCTID:12246008|DOID:0110958|OMIM:230900|Orphanet:77260	mondo.json	Gaucher disease type II|GD II|Gaucher disease, infantile cerebral|Gaucher's disease type II|Gd 2|Gaucher disease, acute neuronopathic type|Gaucher disease type 2|infantile cerebral Gaucher disease|Gaucher disease, type 2|Gaucher disease, type II|acute neuronopathic Gaucher disease	http://purl.obolibrary.org/obo/MONDO_0009266	DOID:0110958|Orphanet:77260|http://identifiers.org/snomedct/12246008|https://omim.org/entry/230900	ordo_clinical_subtype
MONDO:0009265	biolink:Disease	Gaucher disease type I	Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.	GARD:0002441|Orphanet:77259|DOID:0110957|OMIM:230800	mondo.json	Gaucher's disease type I|acid Beta-glucosidase deficiency|Gaucher disease type 1|Gaucher disease, type I|Gaucher disease type I|Gd 1|non-cerebral juvenile Gaucher disease|Gba deficiency|Gaucher disease, type 1|GD I|Gaucher disease, noncerebral juvenile	http://purl.obolibrary.org/obo/MONDO_0009265	DOID:0110957|Orphanet:77259|https://omim.org/entry/230800	ordo_clinical_subtype
MONDO:0010264	biolink:Disease	X-linked adrenal hypoplasia congenita	A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism.	OMIM:300200|SCTID:93235007|UMLS:C0342482|GARD:0000555|DOID:0080156|Orphanet:95702|NCIT:C123725	mondo.json	adrenal insufficiency, progressive, and hypogonadotropic hypogonadism|AHC with HHG|adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism|cytomegalic adrenocortical hypoplasia|cytomegalic congenital adrenal hypoplasia|X-linked congenital adrenal hypoplasia|AHC with isolated gonadotropin deficiency|adrenal hypoplasia congenita|X-linked AHC|mineralocorticoid deficiency, isolated|adrenal hypoplasia, congenital, X-linked recessive|AHC|Addison disease, X-linked|X-linked adrenal hypoplasia congenita|congenital adrenal hypoplasia|adrenal hypoplasia, congenital|adrenal hypoplasia, congenital, with precocious puberty	http://purl.obolibrary.org/obo/MONDO_0010264	NCIT:C123725|http://identifiers.org/snomedct/93235007|DOID:0080156|UMLS:C0342482|https://omim.org/entry/300200|Orphanet:95702	ordo_disease
MONDO:0009264	biolink:Disease	gastroschisis	Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated.	EFO:1000949|MedDRA:10018046|NCIT:C84725|DOID:11044|ICD9:756.73|ICD10CM:Q79.3|GARD:0008661|Orphanet:2368|MESH:D020139|UMLS:C0265706|OMIM:230750|SCTID:72951007	mondo.json	abdominal wall defects|gastroschisis|congenital fissure of the abdominal cavity|laparoschisis|eventration	http://purl.obolibrary.org/obo/MONDO_0009264	DOID:11044|http://identifiers.org/mesh/D020139|NCIT:C84725|http://purl.bioontology.org/ontology/ICD10CM/Q79.3|Orphanet:2368|https://omim.org/entry/230750|http://identifiers.org/snomedct/72951007|UMLS:C0265706	ordo_morphological_anomaly|gard_rare
HGNC:11621	biolink:NamedThing	HNF1A			mondo.json		http://identifiers.org/hgnc/11621		
MONDO:0010263	biolink:Disease	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome		Orphanet:86818|OMIM:300194|MESH:C564570|UMLS:C1846242|SCTID:720982007	mondo.json	Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis|Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis|ATS-MR|chromosome Xq22.3 telomeric deletion syndrome|AMME complex|AMME syndrome|Ats-Mr	http://purl.obolibrary.org/obo/MONDO_0010263	UMLS:C1846242|http://identifiers.org/snomedct/720982007|Orphanet:86818|http://identifiers.org/mesh/C564570|https://omim.org/entry/300194	ordo_disease
MONDO:0009263	biolink:Disease	gapo syndrome	GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations	MESH:C535642|OMIM:230740|SCTID:721843003|GARD:0000400|Orphanet:2067	mondo.json	Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome|Growth retardation, alopecia, pseudoanodontia, and optic atrophy|Growth retardation, alopecia, pseudoanodontia and optic atrophy|gapo syndrome	http://purl.obolibrary.org/obo/MONDO_0009263	http://identifiers.org/mesh/C535642|http://identifiers.org/snomedct/721843003|Orphanet:2067|https://omim.org/entry/230740	ordo_malformation_syndrome|gard_rare
MONDO:0009262	biolink:Disease	GM1 gangliosidosis type 3	GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.	GARD:0002431|SCTID:238027003|OMIM:230650|DOID:0080489|Orphanet:79257	mondo.json	gangliosidosis, generalized GM1, chronic type|gangliosidosis, generalized GM1, adult type|GM1-gangliosidosis, type III|Beta-galactosidase deficiency type 3|gangliosidosis, generalized GM1, type 3|adult-onset GM1 gangliosidosis|adult GM1 gangliosidosis|GM1-gangliosidosis, type 3|gangliosidosis GM1 type 3|gangliosidosis generalized GM1 chronic type	http://purl.obolibrary.org/obo/MONDO_0009262	Orphanet:79257|http://identifiers.org/snomedct/238027003|DOID:0080489|https://omim.org/entry/230650	ordo_clinical_subtype|gard_rare
MONDO:0010266	biolink:Disease	intellectual disability, X-linked 58	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the TSPAN7 gene.	MESH:C564566|OMIM:300210|UMLS:C1846174	mondo.json	intellectual disability, X-linked type 58|non-syndromic X-linked intellectual disability caused by mutation in TSPAN7|MRX58|mental retardation, X-linked 58|TSPAN7 non-syndromic X-linked intellectual disability|mental retardation, X-linked type 58|intellectual disability, X-linked 58|intellectual developmental disorder, X-linked 58, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0010266	UMLS:C1846174|http://identifiers.org/mesh/C564566|https://omim.org/entry/300210	
MONDO:0009261	biolink:Disease	GM1 gangliosidosis type 2	GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age.	OMIM:230600|Orphanet:79256|SCTID:18756002|DOID:0080501|GARD:0010126	mondo.json	juvenile GM1 gangliosidosis|gangliosidosis, generalized GM1, juvenile type|GM1-gangliosidosis, type II|gangliosidosis generalized GM1 type 2|gangliosidosis generalized GM1 juvenile type|gangliosidosis, generalized GM1, type 2|late-infantile GM1 gangliosidosis|GM1-gangliosidosis, type 2|gangliosidosis, generalized GM1, late-infantile type	http://purl.obolibrary.org/obo/MONDO_0009261	http://identifiers.org/snomedct/18756002|https://omim.org/entry/230600|DOID:0080501|Orphanet:79256	gard_rare|ordo_clinical_subtype
MONDO:0010265	biolink:Disease	Simpson-Golabi-Behmel syndrome type 2	Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.	Orphanet:79022|MESH:C564567|DOID:0080342|OMIM:300209|UMLS:C1846175	mondo.json	OFD1 Simpson-Golabi-Behmel syndrome|SGBS2|Simpson-Golabi-Behmel syndrome caused by mutation in OFD1|Sgbs2|Simpson-Golabi-Behmel syndrome, type 2, X-linked recessive|lethal variant of Simpson-Golabi-Behmel syndrome|Simpson-Golabi-Behmel syndrome, type 2	http://purl.obolibrary.org/obo/MONDO_0010265	UMLS:C1846175|DOID:0080342|Orphanet:79022|http://identifiers.org/mesh/C564567|https://omim.org/entry/300209	ordo_malformation_syndrome
MONDO:0010268	biolink:Disease	X-linked lissencephaly with abnormal genitalia	X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit.	SCTID:717632002|GARD:0012491|OMIM:300215|MESH:C564563|Orphanet:452	mondo.json	X-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome|X-linked lissencephaly with ambiguous genitalia|XLAG syndrome|lissencephaly, X-linked, with ambiguous genitalia|X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|hydranencephaly and abnormal genitalia|lissencephaly, X-linked 2|X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies|hydranencephaly with abnormal genitalia|LISX2|X-linked lissencephaly with abnormal genitalia|lissencephaly, X-linked, 2|Xlisg|XLAG (X-linked lissencephaly with abnormal genitalia) syndrome|lissencephaly, X-linked, type 2	http://purl.obolibrary.org/obo/MONDO_0010268	http://identifiers.org/snomedct/717632002|Orphanet:452|http://identifiers.org/mesh/C564563|https://omim.org/entry/300215	gard_rare|ordo_malformation_syndrome
MONDO:0009260	biolink:Disease	GM1 gangliosidosis type 1	GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations.	GARD:0006479|SCTID:238026007|OMIM:230500|DOID:0080502|Orphanet:79255	mondo.json	infantile GM1 gangliosidosis|GLB deficiency type 1|gangliosidosis, generalized GM1, type I, with Cardiac involvement|gangliosidosis generalized GM1 type 1|GM1-gangliosidosis, type I, with Cardiac involvement|GM1-gangliosidosis, type I|Norman-Landing disease|Glb1 deficiency|gangliosidosis generalized GM1 infantile form|Beta galactosidase deficiency type 1|gangliosidosis, generalized GM1, type 1|GM1-gangliosidosis, type 1|Beta-galactosidase-1 deficiency|gangliosidosis, generalized GM1, infantile form	http://purl.obolibrary.org/obo/MONDO_0009260	https://omim.org/entry/230500|DOID:0080502|http://identifiers.org/snomedct/238026007|Orphanet:79255	gard_rare|ordo_clinical_subtype
MONDO:0010267	biolink:Disease	episodic muscle weakness, X-linked		MESH:C564565|OMIM:300211|UMLS:C1846173	mondo.json	EMWX|episodic muscle weakness, X-linked	http://purl.obolibrary.org/obo/MONDO_0010267	UMLS:C1846173|http://identifiers.org/mesh/C564565|https://omim.org/entry/300211	
HGNC:11623	biolink:NamedThing	TCF12			mondo.json		http://identifiers.org/hgnc/11623		
MONDO:0010269	biolink:Disease	Coats disease	Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.	GARD:0006121|OMIM:300216|MedDRA:10015901|Orphanet:190|MESH:D058456|DOID:7765|SCTID:360455002|UMLS:C0154832|ICD9:362.12	mondo.json	retinal telangiectasis|Coats disease|Leber miliary aneurysm|Coats' disease|congenital retinal telangiectasia|Coats' syndrome|exudative retinopathy	http://purl.obolibrary.org/obo/MONDO_0010269	http://identifiers.org/snomedct/360455002|http://identifiers.org/mesh/D058456|UMLS:C0154832|DOID:7765|Orphanet:190|https://omim.org/entry/300216	gard_rare|ordo_disease
GO:0014063	biolink:NamedThing	negative regulation of serotonin secretion	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of serotonin.		mondo.json	down-regulation of serotonin secretion|positive regulation of serotonin release|down regulation of serotonin secretion|inhibition of serotonin secretion|downregulation of serotonin secretion	http://purl.obolibrary.org/obo/GO_0014063		
GO:0014062	biolink:NamedThing	regulation of serotonin secretion	Any process that modulates the frequency, rate or extent of the regulated release of serotonin.		mondo.json	regulation of serotonin release	http://purl.obolibrary.org/obo/GO_0014062		
GO:0014061	biolink:NamedThing	regulation of norepinephrine secretion	Any process that modulates the frequency, rate or extent of the regulated release of norepinephrine.		mondo.json	regulation of noradrenaline secretion	http://purl.obolibrary.org/obo/GO_0014061		
GO:0014060	biolink:NamedThing	regulation of epinephrine secretion	Any process that modulates the frequency, rate or extent of the regulated release of epinephrine.		mondo.json	regulation of adrenaline secretion	http://purl.obolibrary.org/obo/GO_0014060		
MONDO:0010260	biolink:Disease	arthrogryposis, congenital, lower limb, X-linked		OMIM:300158|MESH:C564574|UMLS:C1846273	mondo.json	ACLLX|arthrogryposis, congenital, LOWER limb, X-linked|arthrogryposis, X-linked, type V, formerly|arthrogryposis, X-linked, type V	http://purl.obolibrary.org/obo/MONDO_0010260	https://omim.org/entry/300158|http://identifiers.org/mesh/C564574|UMLS:C1846273	
MONDO:0010262	biolink:Disease	hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses		OMIM:300184|MESH:C537159|GARD:0009601|UMLS:C1970936	mondo.json	hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses|hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response	http://purl.obolibrary.org/obo/MONDO_0010262	http://identifiers.org/mesh/C537159|UMLS:C1970936|https://omim.org/entry/300184	
MONDO:0010261	biolink:Disease	microphthalmia, syndromic 2		ICD9:759.89|GARD:0004628|OMIM:300166|Orphanet:568|Orphanet:2712|SCTID:699300009	mondo.json	microphthalmia, cataracts, radiculomegaly, and septal heart defects|syndromic microphthalmia type 2|cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome|OFCD syndrome|microphthalmia syndromic 2|microphthalmia cataracts radiculomegaly and septal heart defects|MCOPS2|microphthalmia, syndromic type 2|oculofaciocardiodental syndrome|microphthalmia, syndromic 2, X-linked dominant|ANOP2 (formerly)|microphthalmia, syndromic 2|MAA2 (formerly)	http://purl.obolibrary.org/obo/MONDO_0010261	Orphanet:2712|https://omim.org/entry/300166|http://identifiers.org/snomedct/699300009	ordo_malformation_syndrome
GO:0014064	biolink:NamedThing	positive regulation of serotonin secretion	Any process that activates or increases the frequency, rate or extent of the regulated release of serotonin.		mondo.json	stimulation of serotonin secretion|upregulation of serotonin secretion|positive regulation of serotonin release|up-regulation of serotonin secretion|up regulation of serotonin secretion|activation of serotonin secretion	http://purl.obolibrary.org/obo/GO_0014064		
MONDO:0024893	biolink:Disease	toxocara canis infection (canine roundworms)		UMLS:C2930846|MESH:C531834	mondo.json	Toxocara catis infection (feline roundworms)|Human infection with the larvae of canine or feline roundworms	http://purl.obolibrary.org/obo/MONDO_0024893	UMLS:C2930846|http://identifiers.org/mesh/C531834	
OBO:mondo#has_onset	biolink:NamedThing	has onset			mondo.json		http://purl.obolibrary.org/obo/mondo#has_onset		
MONDO:0022236	biolink:Disease	colpocephaly	Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.	SCTID:253160006|GARD:0010008|MESH:C535973	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022236	http://identifiers.org/mesh/C535973|http://identifiers.org/snomedct/253160006	gard_rare
MONDO:0010249	biolink:Disease	obsolete X-linked B cell surface antigen, mouse, homolog-like 1			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010249		
MONDO:0009279	biolink:Disease	triple-A syndrome	Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.	ICD9:255.41|Orphanet:869|NCIT:C131005|OMIM:231550|SCTID:45414006|EFO:1001997|DOID:0050602|GARD:0000457|MESH:C536008	mondo.json	AAA|adrenal insufficiency-achalasia-alacrima syndrome|4A syndrome|3A syndrome|achalasia-alacrima syndrome|Addisonian-achalasia syndrome|2A syndrome|quaternary A syndrome|AAAS|glucocorticoid deficiency and achalasia|AAA syndrome|triple-a syndrome|Double A syndrome|achalasia alacrima syndrome|achalasia-addisonianism-alacrima syndrome|triple A syndrome|hypoadrenalism with achalasia|alacrima-achalasia-addisonianism|alacrima-achalasia-adrenal insufficiency neurologic disorder|achalasia addisonianism alacrimia syndrome|achalasia-addisonianism-alacrimia syndrome|Allgrove syndrome|ACTH-resistant adrenal insufficiency, achalasia and alacrima|Addisonian achalasia syndrome	http://purl.obolibrary.org/obo/MONDO_0009279	Orphanet:869|http://identifiers.org/snomedct/45414006|https://omim.org/entry/231550|http://identifiers.org/mesh/C536008|NCIT:C131005|DOID:0050602	gard_rare|ordo_disease
MONDO:0024890	biolink:Disease	pineal parenchymal cell neoplasm	A neoplasm arising from the pineocyte, a cell with photosensory and neuroendocrine functions. It may be composed of mature elements or primitive, immature cells. The cellular composition determines the biological behavior and clinical outcome. Three types are recognized: pineoblastoma, pineocytoma, and pineal parenchymal tumor of intermediate differentiation (Adapted from WHO.)	NCIT:C6965|ICDO:9360/1|UMLS:C0031941	mondo.json	pineocytic neoplasm|pineal parenchymal neoplasm|pineal parenchymal cell neoplasm|neoplasm of pineal gland|neoplasm of the pineal gland|pineal gland tumor|pineal gland neoplasm|pineocytic tumor|pineal parenchymal cell tumor|pineal parenchymal tumor|tumor of pineal gland|tumor of the pineal gland	http://purl.obolibrary.org/obo/MONDO_0024890	UMLS:C0031941|NCIT:C6965	
MONDO:0009278	biolink:Disease	obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			mondo.json	SCHAD deficiency, formerly	http://purl.obolibrary.org/obo/MONDO_0009278		
MONDO:0009277	biolink:Disease	glaucoma 3A	An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1.	NCIT:C148260|DOID:11211|ICD9:743.21|Orphanet:98976|OMIM:231300|Orphanet:98977	mondo.json	simple buphthalmos|glaucoma 3, primary congenital, type a|buphthalmos|Primary Congenital glaucoma 3A|GLC3A|glaucoma 3, primary congenital, A|glaucoma, primary open angle, adult-onset|glaucoma 3A, primary open angle, congenital, juvenile, or adult onset|glaucoma, congenital|glaucoma, primary open angle, juvenile-onset	http://purl.obolibrary.org/obo/MONDO_0009277	DOID:11211|NCIT:C148260|https://omim.org/entry/231300|Orphanet:98976	
MONDO:0024892	biolink:Disease	soft tissue amyloid neoplasm	A soft tissue neoplasm composed of acellular amyloid material.	DOID:6755|UMLS:C0333572|ICD9:714.32|NCIT:C8323|UMLS:C1706802	mondo.json	amyloid neoplasm|amyloid tumor|soft tissue amyloid tumor|soft tissue amyloid neoplasm|amyloid tumor (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0024892	UMLS:C0333572|DOID:6755|NCIT:C8323|UMLS:C1706802	
MONDO:0009276	biolink:Disease	Bernard-Soulier syndrome	Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.	MedDRA:10057473|OMIM:231200|Orphanet:274|GARD:0002470|UMLS:C0005129|MESH:D001606|DOID:2217|NCIT:C84595|SCTID:234478007	mondo.json	Hemorrhagiparous thrombocytic dystrophy|giant platelet disease|Bernard-Soulier syndrome, type A1 (recessive)|Bernard-Soulier syndrome, type C|macrothrombocytopenia, familial Bernard-Soulier type|Bernard-Soulier syndrome, type B|bleeding disorder, Platelet-type, 1|Bernard-Soulier syndrome|Platelet glycoprotein 1b, deficiency of|giant platelet syndrome|deficiency of platelet glycoprotein 1b|thrombopathy, Bernard-Soulier|hemorrhagic dystrophic thrombocytopenia|Bernard Soulier syndrome|Platelet glycoprotein Ib deficiency|Von Willebrand Factor receptor deficiency|giant platelet disorder, isolated|Bernard - Soulier thrombopathy|BSS|glycoprotein Ib, Platelet, deficiency of|Bernard-Soulier syndrome, type A1	http://purl.obolibrary.org/obo/MONDO_0009276	DOID:2217|UMLS:C0005129|NCIT:C84595|http://identifiers.org/snomedct/234478007|https://omim.org/entry/231200|http://identifiers.org/mesh/D001606|Orphanet:274	ordo_disease
MONDO:0024891	biolink:Disease	non-infectious meningitis		UMLS:C0393442|SCTID:230155003	mondo.json	non-infective meningitis	http://purl.obolibrary.org/obo/MONDO_0024891	http://identifiers.org/snomedct/230155003|UMLS:C0393442	
MONDO:0009275	biolink:Disease	neonatal hemochromatosis	Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4	NCIT:C129980|UMLS:C0268059|MESH:C536394|Orphanet:446|OMIM:231100|GARD:0007172	mondo.json	giant cell Hepatitis|neonatal hepatitis (formerly)|hemochromatosis, neonatal|alloimmune Hepatitis, congenital|idiopathic neonatal hemochromatosis|neonatal Hepatitis, formerly|neonatal Hepatitis|giant cell Hepatitis (formerly)|Nh|giant cell Hepatitis, formerly|hemochromatosis neonatal|Nhc	http://purl.obolibrary.org/obo/MONDO_0009275	UMLS:C0268059|https://omim.org/entry/231100|Orphanet:446|http://identifiers.org/mesh/C536394|NCIT:C129980	ordo_disease|gard_rare
MONDO:0010253	biolink:Disease	migraine, familial typical, susceptibility to, 2		OMIM:300125	mondo.json	migraine, familial typical, susceptibility to, 2|migraine, familial typical, susceptibility to, type 2|migraine with or without aura, susceptibility to, 2|Mgr2|Mfts	http://purl.obolibrary.org/obo/MONDO_0010253	https://omim.org/entry/300125	predisposition
MONDO:0010252	biolink:Disease	intellectual disability, X-linked, with panhypopituitarism		OMIM:300123|UMLS:C1848068|Orphanet:67045	mondo.json	mental retardation, X-linked, with panhypopituitarism|intellectual disability, X-linked, with isolated Growth hormone deficiency|intellectual disability, X-linked, with panhypopituitarism|intellectual developmental disorder, X-linked, with isolated growth hormone deficiency|mental retardation, X-linked, with isolated Growth hormone deficiency	http://purl.obolibrary.org/obo/MONDO_0010252	https://omim.org/entry/300123	
MONDO:0009274	biolink:Disease	ghosal hematodiaphyseal dysplasia	Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.	ICD9:756.59|Orphanet:1802|SCTID:389214003|OMIM:231095|GARD:0010297|MESH:C565551	mondo.json	GHOSAL hematodiaphyseal dysplasia|Ghosal hematodiaphyseal dysplasia syndrome|ghosal hematodiaphyseal dysplasia|diaphyseal dysplasia-anemia syndrome|GHDD|Ghosal syndrome|Ghosal hematodiaphyseal syndrome	http://purl.obolibrary.org/obo/MONDO_0009274	https://omim.org/entry/231095|http://identifiers.org/snomedct/389214003|Orphanet:1802|http://identifiers.org/mesh/C565551	gard_rare|ordo_malformation_syndrome
MONDO:0010255	biolink:Disease	diabetes mellitus, insulin-dependent, X-linked, susceptibility to		UMLS:C1848042|OMIM:300136	mondo.json	diabetes mellitus, insulin-dependent, X-linked, susceptibility to|Iddmx|insulin-dependent diabetes mellitus, X-linked, susceptibility to|diabetes mellitus, insulin-dependent, X-linked	http://purl.obolibrary.org/obo/MONDO_0010255	https://omim.org/entry/300136|UMLS:C1848042	predisposition
MONDO:0009273	biolink:Disease	hydatidiform mole, recurrent, 1	Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene.	UMLS:C3463897|OMIM:231090	mondo.json	hydatidiform Mole, complete|complete hydatidiform mole caused by mutation in NLRP7|NLRP7 complete hydatidiform mole|hydatidiform Mole, recurrent, type 1|hydatidiform MOLE, recurrent, 1|hydatidiform mole, recurrent, 1|gestational trophoblastic disease|HYDM1|hydatidiform mole	http://purl.obolibrary.org/obo/MONDO_0009273	UMLS:C3463897|https://omim.org/entry/231090	
HGNC:11630	biolink:NamedThing	HNF1B			mondo.json		http://identifiers.org/hgnc/11630		
MONDO:0010254	biolink:Disease	obsolete hematopoietic stem cell kinetics, control of		OMIM:300129	mondo.json	hematopoietic stem cell kinetics, control of	http://purl.obolibrary.org/obo/MONDO_0010254	https://omim.org/entry/300129	
MONDO:0009272	biolink:Disease	German syndrome	German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.	Orphanet:2077|OMIM:231080|MESH:C562543|SCTID:733037000|UMLS:C3887495	mondo.json	German syndrome	http://purl.obolibrary.org/obo/MONDO_0009272	http://identifiers.org/mesh/C562543|https://omim.org/entry/231080|Orphanet:2077|http://identifiers.org/snomedct/733037000|UMLS:C3887495	ordo_malformation_syndrome
MONDO:0009271	biolink:Disease	geroderma osteodysplastica	Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.	Orphanet:2078|UMLS:C0432255|DOID:0111266|ICD9:759.89|GARD:0000413|MESH:C537799|SCTID:254116003|OMIM:231070	mondo.json	GO|GERODERMA OSTEODYSPLASTICUM|Geroderma osteodysplasticum|Gerodermia osteodysplastica|Walt Disney dwarfism|geroderma osteodysplastica	http://purl.obolibrary.org/obo/MONDO_0009271	http://identifiers.org/snomedct/254116003|https://omim.org/entry/231070|Orphanet:2078|http://identifiers.org/mesh/C537799|DOID:0111266|UMLS:C0432255	gard_rare|ordo_malformation_syndrome
MONDO:0010257	biolink:Disease	prostate cancer, hereditary, X-linked 1		OMIM:300147|UMLS:C1846279	mondo.json	prostate cancer susceptibility, X-linked|HPCX1|prostate cancer, hereditary, X-linked 1	http://purl.obolibrary.org/obo/MONDO_0010257	UMLS:C1846279|https://omim.org/entry/300147	
MONDO:0010256	biolink:Disease	intellectual disability, X-linked 21	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene.	OMIM:300143	mondo.json	intellectual disability, X-linked 21|mental retardation, X-linked type 21|intellectual developmental disorder, X-linked 21, X-linked recessive|non-syndromic X-linked intellectual disability caused by mutation in IL1RAPL1|intellectual disability, X-linked type 21|mental retardation, X-linked 34|IL1RAPL1 non-syndromic X-linked intellectual disability|MRX21|intellectual disability, X-linked 34|mental retardation, X-linked 21	http://purl.obolibrary.org/obo/MONDO_0010256	https://omim.org/entry/300143	
MONDO:0009270	biolink:Disease	genito-palato-cardiac syndrome	Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.	GARD:0002460|MESH:C537683|Orphanet:2075|UMLS:C1856466|OMIM:231060	mondo.json	genito palato cardiac syndrome|Gardner-Silengo-Wachtel syndrome|GENITOPALATOCARDIAC syndrome|Male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal Cardiac defect	http://purl.obolibrary.org/obo/MONDO_0009270	https://omim.org/entry/231060|Orphanet:2075|http://identifiers.org/mesh/C537683|UMLS:C1856466	gard_rare|ordo_malformation_syndrome
MONDO:0010259	biolink:Disease	retinitis pigmentosa 24	A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27.	OMIM:300155|UMLS:C3887982|GARD:0010389|DOID:0110416|ICD10CM:H35.5	mondo.json	RP 24|RP24|retinitis pigmentosa type 24|retinitis pigmentosa 24	http://purl.obolibrary.org/obo/MONDO_0010259	UMLS:C3887982|DOID:0110416|https://omim.org/entry/300155	gard_rare
HGNC:11634	biolink:NamedThing	TCF4			mondo.json		http://identifiers.org/hgnc/11634		
MONDO:0010258	biolink:Disease	MEHMO syndrome	MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.	Orphanet:85282|UMLS:C1846278|OMIM:300987|SCTID:722037004|UMLS:C4310813|GARD:0009178|DOID:0060801|MESH:C537451|OMIM:300148	mondo.json	syndromic X-linked mental retardation 20|intellectual disability, X-linked, syndromic 20|mental retardation, X-linked, syndromic 25|intellectual disability, X-linked, syndromic, Borck type; MRXSBRK|syndromic X-linked intellectual disability 20|MRXS25|mental retardation, X-linked, syndromic, Borck type|MEHMO syndrome|MEHMO syndrome, X-linked recessive|mental retardation, X-linked, syndromic 20|MRXS20|MEHMO|intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity|X-linked MEHMO syndrome|mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity|MRXSBRK|intellectual disability, X-linked, syndromic, Borck type|syndromic X-linked mental retardation 25|intellectual disability, X-linked, syndromic 25|syndromic X-linked intellectual disability 25|X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome	http://purl.obolibrary.org/obo/MONDO_0010258	DOID:0060801|http://identifiers.org/snomedct/722037004|https://omim.org/entry/300987|UMLS:C1846278|http://identifiers.org/mesh/C537451|Orphanet:85282|https://omim.org/entry/300148	ordo_malformation_syndrome
HGNC:11633	biolink:NamedThing	TCF3			mondo.json		http://identifiers.org/hgnc/11633		
MONDO:0034204	biolink:Disease	syndromic congenital sodium diarrhea		Orphanet:563708	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034204	Orphanet:563708	ordo_disease
GO:0038023	biolink:NamedThing	signaling receptor activity	Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response.		mondo.json	receptor activity|receptor activity involved in signal transduction|signalling receptor activity	http://purl.obolibrary.org/obo/GO_0038023		
MONDO:0010251	biolink:Disease	intellectual disability, X-linked 50		MESH:C564713|OMIM:300115|UMLS:C1848087	mondo.json	intellectual developmental disorder, X-linked 50|intellectual disability, X-linked 50|MRX50|mental retardation, X-linked 50	http://purl.obolibrary.org/obo/MONDO_0010251	https://omim.org/entry/300115|http://identifiers.org/mesh/C564713|UMLS:C1848087	
MONDO:0010250	biolink:Disease	intellectual disability, X-linked 49		OMIM:300114	mondo.json	mental retardation, X-linked 15|MRX49|mental retardation, X-linked 49|raynaud-claes syndrome, X-linked dominant|intellectual disability, X-linked 49|intellectual disability, X-linked 15	http://purl.obolibrary.org/obo/MONDO_0010250	https://omim.org/entry/300114	
GO:0038024	biolink:NamedThing	cargo receptor activity	Binding specifically to a substance (cargo) to deliver it to a transport vesicle. Cargo receptors span a membrane (either the plasma membrane or a vesicle membrane), binding simultaneously to cargo molecules and coat adaptors, to efficiently recruit soluble proteins to nascent vesicles.		mondo.json	receptor activity|transport receptor activity|receptor activity involved in receptor-mediated endocytosis|endocytic receptor activity	http://purl.obolibrary.org/obo/GO_0038024		
NCBITaxon:65647	biolink:OrganismalEntity	Ixodes holocyclus		GC_ID:1	mondo.json	paralysis tick	http://purl.obolibrary.org/obo/NCBITaxon_65647		
MONDO:0000832	biolink:Disease	obsolete myeloid neoplasm			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000832		
MONDO:0000831	biolink:Disease	thrombotic disease	The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury.	NCIT:C26891|MESH:D013927|SCTID:439127006|DOID:0060903|ICD9:453.9	mondo.json	Thromboses|clot, blood|thrombus|thrombosis|blood clot|Clots, blood|blood Clots|thrombotic disorder	http://purl.obolibrary.org/obo/MONDO_0000831	http://identifiers.org/snomedct/439127006|NCIT:C26891|http://identifiers.org/mesh/D013927|DOID:0060903	
MONDO:0000830	biolink:Disease	obsolete Waldenstroem's macroglobulinemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000830		
HGNC:4329	biolink:NamedThing	GLRB			mondo.json		http://identifiers.org/hgnc/4329		
MONDO:0012814	biolink:Disease	diastasis recti and weakness of the linea alba		UMLS:C2677303|MESH:C567402|OMIM:612198	mondo.json	diastasis recti and weakness of the linea alba	http://purl.obolibrary.org/obo/MONDO_0012814	https://omim.org/entry/612198|UMLS:C2677303|http://identifiers.org/mesh/C567402	
MONDO:0012815	biolink:Disease	Coats plus syndrome	Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.	OMIMPS:612199|ICD9:348.89|UMLS:CN282828|Orphanet:313838|SCTID:711482008|MESH:C567401	mondo.json	CRMCC|cerebroretinal microangiopathy with calcfications and cysts|cerebroretinal microangiopathy with calcifications and cysts	http://purl.obolibrary.org/obo/MONDO_0012815	Orphanet:313838|https://omim.org/phenotypicSeries/PS612199|http://identifiers.org/snomedct/711482008|http://identifiers.org/mesh/C567401|UMLS:CN282828	ordo_disease
MONDO:0012812	biolink:Disease	developmental and epileptic encephalopathy, 4	Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition.	SCTID:768666006|Orphanet:599373|NCIT:C162472|Orphanet:33069|DOID:0080436|GARD:0012900|UMLS:C2677326|MESH:C567404|OMIM:612164	mondo.json	EIEE4|early infantile epileptic encephalopathy caused by mutation in STXBP1|epileptic encephalopathy, early infantile, type 4|STXBP1-related early-onset encephalopathy|epileptic encephalopathy, early infantile, 4|STXBP1 early infantile epileptic encephalopathy|developmental and epileptic encephalopathy, 4|STXBP1-related encephalopathy|developmental and epileptic encephalopathy 4|early infantile epileptic encephalopathy 4|DEE4	http://purl.obolibrary.org/obo/MONDO_0012812	https://omim.org/entry/612164|UMLS:C2677326|http://identifiers.org/mesh/C567404|Orphanet:599373|DOID:0080436|NCIT:C162472|http://identifiers.org/snomedct/768666006	ordo_disease|gard_rare
MONDO:0012813	biolink:Disease	retinitis pigmentosa 29	A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34.	DOID:0110378|ICD10CM:H35.5|MESH:C567403|UMLS:C2677325|GARD:0010378|OMIM:612165	mondo.json	retinitis pigmentosa type 29|RP29|RP 29|retinitis pigmentosa 29	http://purl.obolibrary.org/obo/MONDO_0012813	https://omim.org/entry/612165|UMLS:C2677325|http://identifiers.org/mesh/C567403|DOID:0110378	gard_rare
MONDO:0012818	biolink:Disease	maturity-onset diabetes of the young type 9	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene.	SCTID:609576002|MESH:C567393|UMLS:C2677132|OMIM:612225|GARD:0010663|DOID:0111107	mondo.json	maturity-onset diabetes of the young (disease) caused by mutation in PAX4|maturity-onset diabetes of the young, type 9|maturity-onset diabetes of the young, type IX|MODY PAX4 related|MODY9|type 9 maturity-onset diabetes of the young|MODY type 9|diabetes mellitus MODY type 9|PAX4 maturity-onset diabetes of the young (disease)	http://purl.obolibrary.org/obo/MONDO_0012818	https://omim.org/entry/612225|UMLS:C2677132|http://identifiers.org/mesh/C567393|DOID:0111107|http://identifiers.org/snomedct/609576002	gard_rare
MONDO:0012819	biolink:Disease	diabetic ketoacidosis	The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids.	ICD9:250.1|MedDRA:10012671|EFO:1000897|SCTID:420422005|DOID:1837|MESH:D016883|UMLS:C0011880|OMIM:612227|ICD9:250.10	mondo.json	KPD|ketosis-prone diabetes mellitus|diabetes mellitus, ketosis-prone|diabetes mellitus, ketosis-prone, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0012819	UMLS:C0011880|http://identifiers.org/snomedct/420422005|DOID:1837|https://omim.org/entry/612227|http://identifiers.org/mesh/D016883	
MONDO:0012816	biolink:Disease	atrial fibrillation, familial, 6	Any familial atrial fibrillation in which the cause of the disease is a mutation in the NPPA gene.	UMLS:C2677294|MESH:C567400|OMIM:612201	mondo.json	familial atrial fibrillation caused by mutation in NPPA|atrial fibrillation, familial, type 6|NPPA familial atrial fibrillation|ATFB6|atrial fibrillation, familial, 6	http://purl.obolibrary.org/obo/MONDO_0012816	https://omim.org/entry/612201|UMLS:C2677294|http://identifiers.org/mesh/C567400	
MONDO:0012817	biolink:Disease	Ewing sarcoma	A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms.	UMLS:C3489398|ICD10CM:C40.3|NCIT:C9341|ICDO:9260/3|ICD10CM:C40.2|NCIT:C7542|ICD10CM:C40.1|ONCOTREE:ES|MedDRA:10015560|UMLS:C0684337|MESH:D012512|UMLS:C0877849|UMLS:C0553580|Orphanet:319|OMIM:612219|DOID:3369|Orphanet:2677|GARD:0006390|DOID:0050608|NCIT:C4817|EFO:0000174	mondo.json	sarcoma, Ewing's|neuroepithelioma, peripheral|Ewing's tumor|localized peripheral primitive neuroectodermal tumor|localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor|neuroepithelioma|Ewing tumor|localized Ewing sarcoma|ES|Ewing sarcoma|Ewings sarcoma|localized Ewing's sarcoma|Ewings sarcoma-primitive neuroectodermal tumor|Ewing's sarcoma|Ewing's family localized tumor|localized Ewing's tumor|PNET of Thoracopulmonary region	http://purl.obolibrary.org/obo/MONDO_0012817	https://omim.org/entry/612219|NCIT:C4817|Orphanet:319|http://identifiers.org/mesh/D012512|DOID:3369|UMLS:C0553580	ordo_disease
HGNC:4331	biolink:NamedThing	GLS			mondo.json		http://identifiers.org/hgnc/4331		
HGNC:6996	biolink:NamedThing	MEF2C			mondo.json		http://identifiers.org/hgnc/6996		
HGNC:6998	biolink:NamedThing	MEFV			mondo.json		http://identifiers.org/hgnc/6998		
MONDO:0012821	biolink:Disease	colorectal cancer, susceptibility to, 5		OMIM:612230	mondo.json	colorectal cancer, susceptibility to, 5|colorectal cancer, susceptibility to, on chromosome 10|CRCS5	http://purl.obolibrary.org/obo/MONDO_0012821	https://omim.org/entry/612230	predisposition
HGNC:11603	biolink:NamedThing	TBX4			mondo.json		http://identifiers.org/hgnc/11603		
MONDO:0012822	biolink:Disease	colorectal cancer, susceptibility to, 6		OMIM:612231	mondo.json	colorectal cancer, susceptibility to, 6|CRCS6|colorectal cancer, susceptibility to, on chromosome 8Q23	http://purl.obolibrary.org/obo/MONDO_0012822	https://omim.org/entry/612231	predisposition
HGNC:11602	biolink:NamedThing	TBX3			mondo.json		http://identifiers.org/hgnc/11602		
MONDO:0012820	biolink:Disease	colorectal cancer, susceptibility to, 3	Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene.	OMIM:612229	mondo.json	colorectal cancer, susceptibility to, type 3|colorectal cancer caused by mutation in SMAD7|colorectal cancer, susceptibility to, on chromosome 18|CRCS3|susceptibility to colorectal cancer 3|SMAD7 colorectal cancer|colorectal cancer, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0012820	https://omim.org/entry/612229	predisposition
HGNC:11600	biolink:NamedThing	TBX22			mondo.json		http://identifiers.org/hgnc/11600		
MONDO:0000825	biolink:Disease	obsolete hypomyelinating leukodystrophy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000825		
MONDO:0000824	biolink:Disease	congenital diarrhea		UMLS:CN232319|OMIMPS:214700|DOID:0060774	mondo.json	diarrhea, congenital	http://purl.obolibrary.org/obo/MONDO_0000824	DOID:0060774|UMLS:CN232319|https://omim.org/phenotypicSeries/PS214700	
MONDO:0000823	biolink:Disease	obsolete MONDO:0000823			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000823		
MONDO:0000822	biolink:Disease	obsolete lymphoproliferative syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000822		
HGNC:4336	biolink:NamedThing	GLUD2			mondo.json		http://identifiers.org/hgnc/4336		
HGNC:6990	biolink:NamedThing	MECP2			mondo.json		http://identifiers.org/hgnc/6990		
MONDO:0000829	biolink:Disease	obsolete early-onset Parkinson disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000829		
HGNC:4335	biolink:NamedThing	GLUD1			mondo.json		http://identifiers.org/hgnc/4335		
MONDO:0000828	biolink:Disease	juvenile-onset Parkinson disease		DOID:0060893	mondo.json	juvenile-onset Parkinson's disease	http://purl.obolibrary.org/obo/MONDO_0000828	DOID:0060893	
MONDO:0000827	biolink:Disease	salmonellosis	Infections with bacteria of the genus salmonella.	MESH:D012480|SCTID:302231008|UMLS:CN205993|Orphanet:795|EFO:1001418|ICD9:003.8|DOID:0060859|UMLS:C0036117|ICD9:003.0|ICD9:003.9|MedDRA:10039447	mondo.json	Salmonella infection|rare form of salmonellosis|infections, Salmonella	http://purl.obolibrary.org/obo/MONDO_0000827	DOID:0060859|UMLS:CN205993|http://identifiers.org/mesh/D012480|http://identifiers.org/snomedct/302231008|UMLS:C0036117|Orphanet:795	ordo_group_of_disorders|disease_grouping
UBERON:0006048	biolink:AnatomicalEntity	digit 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006048		
MONDO:0000826	biolink:Disease	obsolete syndromic X-linked intellectual disability Cabezas type			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000826		
HGNC:6993	biolink:NamedThing	MEF2A			mondo.json		http://identifiers.org/hgnc/6993		
MONDO:0012809	biolink:Disease	histiocytoma, Angiomatoid fibrous	A low malignant potential soft tissue neoplasm of uncertain differentiation. It typically affects young patients, presenting as a slowly growing nodular or cystic tumor mass, most often in the subcutaneous tissues of the extremities. Occasionally, patients have systemic symptoms (anemia, fever, and weight loss). This tumor has a relatively good prognosis. A minority of patients develop local recurrences. Metastases are rare.	ONCOTREE:AFH|ICDO:8836/1|UMLS:C1266127|MESH:C563181|OMIM:612160|Orphanet:569164|NCIT:C6494	mondo.json	histiocytoma, angiomatoid fibrous, somatic|angiomatoid malignant fibrous histiocytoma|histiocytoma, Angiomatoid fibrous|angiomatoid fibrous histiocytoma|AFH	http://purl.obolibrary.org/obo/MONDO_0012809	http://identifiers.org/mesh/C563181|NCIT:C6494|https://omim.org/entry/612160|Orphanet:569164|UMLS:C1266127	
PO:0025099	biolink:NamedThing	embryo plant structure	A plant structure (PO:0009011) that is part of an plant embryo (PO:0009009).	PO_GIT:339|PO_GIT:245	mondo.json	胚性植物構造 (Japanese, exact)|embryonic plant structure (exact)|estructura vegetal embri&#243nica (Spanish, exact)	http://purl.obolibrary.org/obo/PO_0025099		
MONDO:0000843	biolink:Disease	obsolete MONDO:0000843			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000843		
MONDO:0000842	biolink:Disease	obsolete MONDO:0000842			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000842		
MONDO:0000841	biolink:Disease	obsolete metaphyseal dysplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000841		
MONDO:0000840	biolink:Disease	dysbaric osteonecrosis	A form of avascular necrosis where there is death of a portion of the bone that is thought to be caused by nitrogen embolism.	DOID:0080018|SCTID:431591000124102	mondo.json	caisson disease of bone|DON	http://purl.obolibrary.org/obo/MONDO_0000840	http://identifiers.org/snomedct/431591000124102|DOID:0080018	
MONDO:0012803	biolink:Disease	diarrhea-vomiting due to trehalase deficiency	This syndrome is characterised by diarrhoea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms.	GARD:0010372|MESH:C562603|SCTID:84193000|OMIM:612119|UMLS:C0268187|Orphanet:103909|ICD9:271.8	mondo.json	isolated trehalose intolerance|trehalase deficiency|trehalose intolerance	http://purl.obolibrary.org/obo/MONDO_0012803	Orphanet:103909|https://omim.org/entry/612119|http://identifiers.org/mesh/C562603|UMLS:C0268187|http://identifiers.org/snomedct/84193000	ordo_disease
MONDO:0012804	biolink:Disease	hypertrophic cardiomyopathy 12	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.	OMIM:612124|UMLS:C2677491|DOID:0110318	mondo.json	cardiomyopathy, familial hypertrophic, type 12|CMH12|cardiomyopathy, familial hypertrophic, 12|cardiomyopathy, hypertrophic, 12|hypertrophic cardiomyopathy 12|CSRP3 hypertrophic cardiomyopathy|cardiomyopathy familial hypertrophic 12|hypertrophic cardiomyopathy type 12|hypertrophic cardiomyopathy caused by mutation in CSRP3	http://purl.obolibrary.org/obo/MONDO_0012804	https://omim.org/entry/612124|UMLS:C2677491|DOID:0110318	
MONDO:0012801	biolink:Disease	autism, susceptibility to, 15		OMIM:612100	mondo.json	AUTS15|autism susceptibility 15|autism, susceptibility to, type 15|susceptibility to autism 15|autism, susceptibility to, 15	http://purl.obolibrary.org/obo/MONDO_0012801	https://omim.org/entry/612100	predisposition
HGNC:11605	biolink:NamedThing	TBX6			mondo.json		http://identifiers.org/hgnc/11605		
MONDO:0012802	biolink:Disease	oculoauricular syndrome	Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia).	DOID:0060482|Orphanet:157962|UMLS:C2677500|MESH:C567416|OMIM:612109	mondo.json	OCACS|Schorderet-Munier-Franceschetti syndrome|oculoauricular syndrome|oculoauricular syndrome, Schorderet type|microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, Rod-cone dystrophy, and anomalies of the external Ear	http://purl.obolibrary.org/obo/MONDO_0012802	DOID:0060482|Orphanet:157962|https://omim.org/entry/612109|UMLS:C2677500|http://identifiers.org/mesh/C567416	ordo_malformation_syndrome
HGNC:11604	biolink:NamedThing	TBX5			mondo.json		http://identifiers.org/hgnc/11604		
NCBITaxon:41665	biolink:OrganismalEntity	Neopterygii		GC_ID:1	mondo.json	Neopterygi	http://purl.obolibrary.org/obo/NCBITaxon_41665		
MONDO:0012807	biolink:Disease	epidermolysis bullosa simplex 5C, with pyloric atresia	A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.	UMLS:C2677349|SCTID:716701004|MESH:C567408|Orphanet:158684|OMIM:612138	mondo.json	EBS with pyloric atresia|EBS-PA|epidermolysis bullosa simplex with pyloric atresia|epidermolysis bullosa simplex 5C, with pyloric atresia|EBSPA	http://purl.obolibrary.org/obo/MONDO_0012807	Orphanet:158684|https://omim.org/entry/612138|UMLS:C2677349|http://identifiers.org/mesh/C567408|http://identifiers.org/snomedct/716701004	ordo_disease
MONDO:0012808	biolink:Disease	dilated cardiomyopathy 1AA	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene.	OMIM:612158|MESH:C567407|DOID:0110428|UMLS:C2677338	mondo.json	dilated cardiomyopathy type 1AA|cardiomyopathy, dilated, 1AA, with or without LVNC|ACTN2 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction|cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction|cardiomyopathy, hypertrophic, 23, with or without LVNC|familial isolated dilated cardiomyopathy caused by mutation in ACTN2|dilated cardiomyopathy 1AA with or without left ventricular noncompaction|CMD1AA	http://purl.obolibrary.org/obo/MONDO_0012808	DOID:0110428|https://omim.org/entry/612158|UMLS:C2677338|http://identifiers.org/mesh/C567407	
MONDO:0012805	biolink:Disease	childhood onset GLUT1 deficiency syndrome 2	A form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.	Orphanet:98811|OMIM:612126|DOID:0090045|GARD:0010541|UMLS:C1842534|MESH:C564288|SCTID:724072002	mondo.json	paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anemia|ped|paroxysmal exercise-induced dystonia|GLUT1 deficiency syndrome 2|GLUT1 deficiency syndrome type 2|dystonia 18|DYT18|paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anemia|childhood onset GLUT1 deficiency syndrome type 2|ped with or without epilepsy and/or hemolytic Anemia|childhood onset GLUT1 deficiency syndrome 2|paroxysmal exertion-induced dyskinesia|DYT-SLC2A1|GLUT1 deficiency syndrome 2, childhood onset|PxMD-SLC2A1|GLUT1DS2	http://purl.obolibrary.org/obo/MONDO_0012805	http://identifiers.org/snomedct/724072002|https://omim.org/entry/612126|Orphanet:98811|DOID:0090045|http://identifiers.org/mesh/C564288|UMLS:C1842534	ordo_disease
HGNC:11609	biolink:NamedThing	TBXAS1			mondo.json		http://identifiers.org/hgnc/11609		
MONDO:0012806	biolink:Disease	ectodermal dysplasia and immunodeficiency 2		OMIM:612132|UMLS:C2677481|MESH:C567411	mondo.json	EPAID2|ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012806	https://omim.org/entry/612132|UMLS:C2677481|http://identifiers.org/mesh/C567411	
HGNC:11608	biolink:NamedThing	TBXA2R			mondo.json		http://identifiers.org/hgnc/11608		
HGNC:11610	biolink:NamedThing	TCAP			mondo.json		http://identifiers.org/hgnc/11610		
HGNC:4341	biolink:NamedThing	GLUL			mondo.json		http://identifiers.org/hgnc/4341		
MONDO:0012810	biolink:Disease	aneurysm, intracranial berry, 7		OMIM:612161|UMLS:C2677337|MESH:C567406	mondo.json	ANIB7|aneurysm, intracranial BERRY, 7	http://purl.obolibrary.org/obo/MONDO_0012810	https://omim.org/entry/612161|UMLS:C2677337|http://identifiers.org/mesh/C567406	
MONDO:0012811	biolink:Disease	aneurysm, intracranial berry, 8		OMIM:612162|UMLS:C2677336|MESH:C567405	mondo.json	ANIB8|aneurysm, intracranial BERRY, 8	http://purl.obolibrary.org/obo/MONDO_0012811	https://omim.org/entry/612162|UMLS:C2677336|http://identifiers.org/mesh/C567405	
MONDO:0000836	biolink:Disease	disease of bone structure		DOID:0080010	mondo.json	bone structure disease	http://purl.obolibrary.org/obo/MONDO_0000836	DOID:0080010	
MONDO:0000835	biolink:Disease	obsolete ischemic bone disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000835		
MONDO:0000834	biolink:Disease	obsolete bone deterioration disease	OBSOLETE. A bone structure disease that results in change or damage of structure located in bone.	DOID:0080007	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000834	DOID:0080007	
MONDO:0000833	biolink:Disease	bone remodeling disease	A bone disease that results in formation or resorption abnormalities located in bone.	DOID:0080005	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000833	DOID:0080005	
MONDO:0000839	biolink:Disease	obsolete congenital abnormality	OBSOLETE. Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period.	UMLS:CN232116|MESH:D000013|DOID:0080015|EFO:0003915|ICD9:759.89|NCIT:C2849|SCTID:276654001|ICD9:759.9	mondo.json	congenital deformity|congenital defect|congenital abnormality|physical disorder|congenital anatomic Abnormality|congenital Abnormality|fetal developmental abnormality|CM - congenital malformation|SCONG|congenital anomaly|congenital defect/deformity|congenital anomaly or birth defect|fetal malformation|congenital malformation|congenital anatomical Abnormality|congenital anomalies of fetus|foetal malformation|defect/deformity, congenital|defect/deformity, Congenital|birth defect|deformity/defect, Congenital	http://purl.obolibrary.org/obo/MONDO_0000839	http://identifiers.org/snomedct/276654001|UMLS:CN232116|http://identifiers.org/mesh/D000013|DOID:0080015|NCIT:C2849	
MONDO:0000838	biolink:Disease	obsolete chromosomal disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000838		
MONDO:0000837	biolink:Disease	bone resorption disease	A disease that has its basis in the disruption of bone resorption. Bone resorption is a process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products.	MESH:D001862|DOID:0080011	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000837	DOID:0080011|http://identifiers.org/mesh/D001862	
MONDO:0000810	biolink:Disease	obsolete DMD-related dilated cardiomyopathy	OBSOLETE. A dilated cardiomyopathy that has material basis in mutations in the DMD gene.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0000810		
PO:0025082	biolink:NamedThing	reproductive shoot system	A shoot system (PO:0009006) in the sporophytic phase that has as part at least one sporangium (PO:0025094).		mondo.json	生殖シュート 系、苗条系 (Japanese, exact)|sistema de brote reproductivo (Spanish, exact)	http://purl.obolibrary.org/obo/PO_0025082		TraitNet
NCBITaxon:51028	biolink:OrganismalEntity	Enterobius vermicularis		GC_ID:1	mondo.json	human pinworm	http://purl.obolibrary.org/obo/NCBITaxon_51028		
NCBITaxon:51027	biolink:OrganismalEntity	Enterobius		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_51027		
MONDO:0000809	biolink:Disease	purpura fulminans	A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by disseminated intravascular coagulation.	SCTID:13507004|EFO:1001913|DOID:0060538|MESH:D055665	mondo.json	purpura gangrenosa|fibrinolytic purpura	http://purl.obolibrary.org/obo/MONDO_0000809	http://identifiers.org/mesh/D055665|DOID:0060538|http://identifiers.org/snomedct/13507004	
MONDO:0000808	biolink:Disease	obsolete hepatoid adenocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000808		
MONDO:0012800	biolink:Disease	trichoepithelioma, multiple familial, 2		MESH:C567418|UMLS:C2677505|GARD:0010373|OMIM:612099	mondo.json	trichoepithelioma, multiple familial, 2|Mft2|multiple familial trichoepithelioma 2|trichoepithelioma multiple familial 2|trichoepithelioma, multiple familial, type 2	http://purl.obolibrary.org/obo/MONDO_0012800	https://omim.org/entry/612099|UMLS:C2677505|http://identifiers.org/mesh/C567418	gard_rare
MONDO:0000803	biolink:Disease	obsolete tiger prawn allergy	OBSOLETE. A allergy involving a Penaeus monodon.	DOID:0060528	mondo.json	allergy of Penaeus monodon|Penaeus monodon allergic disease|Penaeus monodon allergy|Penaeus monodon caused allergic disease	http://purl.obolibrary.org/obo/MONDO_0000803	DOID:0060528	
MONDO:0000802	biolink:Disease	obsolete Indian prawn allergy	OBSOLETE. A allergic disease involving a Indian prawn.	DOID:0060527	mondo.json	Fenneropenaeus indicus allergy|Indian prawn allergic disease|allergy of Indian prawn	http://purl.obolibrary.org/obo/MONDO_0000802	DOID:0060527	
MONDO:0000801	biolink:Disease	obsolete green mud crab allergy	OBSOLETE. A allergic disease involving a green mud crab.	DOID:0060526	mondo.json	Scylla paramamosain allergy|allergy of green mud crab|crab allergy|green mud crab allergic disease	http://purl.obolibrary.org/obo/MONDO_0000801	DOID:0060526	
MONDO:0000800	biolink:Disease	obsolete brown shrimp allergy	OBSOLETE. A allergic disease involving a brown shrimp.	DOID:0060525	mondo.json	allergy of brown shrimp|Farfantepenaeus aztecus allergy|brown shrimp allergic disease	http://purl.obolibrary.org/obo/MONDO_0000800	DOID:0060525	
MONDO:0000807	biolink:Disease	latex allergy	Allergic reaction to products containing processed natural rubber latex such as rubber gloves, condoms, catheters, dental dams, balloons, and sporting equipment. Both T-cell mediated (hypersensitivity, delayed) and IgE antibody-mediated (hypersensitivity, immediate) allergic responses are possible. Delayed hypersensitivity results from exposure to antioxidants present in the rubber; immediate hypersensitivity results from exposure to a latex protein.	DOID:0060532|ICD9:989.82|MESH:D020315|ICD9:V15.07|SCTID:300916003|ICD9:995.3	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000807	DOID:0060532|http://identifiers.org/snomedct/300916003|http://identifiers.org/mesh/D020315	
MONDO:0000806	biolink:Disease	obsolete horned turban snail allergy	OBSOLETE. A allergy involving a Turbo cornutus.	DOID:0060531	mondo.json	allergy of Turbo cornutus|Turbo cornutus caused allergic disease|Turbo cornutus allergic disease|Turbo cornutus allergy	http://purl.obolibrary.org/obo/MONDO_0000806	DOID:0060531	
NCBITaxon:51026	biolink:OrganismalEntity	Oxyuridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_51026		
MONDO:0000805	biolink:Disease	obsolete snail allergy	OBSOLETE. A allergic disease involving a snail food product.	DOID:0060530	mondo.json	snail food product allergic disease|allergy of snail food product	http://purl.obolibrary.org/obo/MONDO_0000805	DOID:0060530	
MONDO:0000804	biolink:Disease	obsolete white shrimp allergy	OBSOLETE. A allergy involving a Litopenaeus schmitti.	DOID:0060529	mondo.json	Litopenaeus schmitti allergic disease|Litopenaeus vannamei allergy|Litopenaeus schmitti caused allergic disease|allergy of Litopenaeus schmitti	http://purl.obolibrary.org/obo/MONDO_0000804	DOID:0060529	
NCBITaxon:51025	biolink:OrganismalEntity	Oxyuroidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_51025		
MONDO:0000821	biolink:Disease	obsolete MONDO:0000821			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000821		
MONDO:0000820	biolink:Disease	cerebral cavernous malformation	A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur.	Orphanet:164|DOID:0060669|NCIT:C84626	mondo.json	familial cavernous angioma|cerebral cavernous malformation|cavernous angiomatous malformations|cerebral capillary malformations|CCM|brain cavernous hemangioma	http://purl.obolibrary.org/obo/MONDO_0000820	NCIT:C84626|Orphanet:164|DOID:0060669	
NCIT:C165233	biolink:NamedThing	Expression Negative			mondo.json		http://purl.obolibrary.org/obo/NCIT_C165233		http://purl.obolibrary.org/obo/NCIT_C157711|http://purl.obolibrary.org/obo/NCIT_C159116
MONDO:0000819	biolink:Disease	anencephaly	A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus.	OMIMPS:206500|MESH:D000757|NCIT:C84560|DOID:0060668	mondo.json	anencephalus	http://purl.obolibrary.org/obo/MONDO_0000819	http://identifiers.org/mesh/D000757|https://omim.org/phenotypicSeries/PS206500|DOID:0060668|NCIT:C84560	
UBERON:0006011	biolink:AnatomicalEntity	hyaloid vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006011		
UBERON:0006010	biolink:AnatomicalEntity	hyaloid canal			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006010		
MONDO:0000814	biolink:Disease	B-cell adult acute lymphocytic leukemia	An acute B-lymphoblastic leukemia occurring in adults.	UMLS:C0279593|DOID:0060592|NCIT:C9143|EFO:1001935	mondo.json	adult B cell acute lymphoblastic leukemia|B-cell adult acute lymphoblastic leukemia|B-cell adult ALL|adult B-cell acute lymphocytic leukemia|B-cell childhood acute lymphoblastic leukemia of adults|adult B cell ALL|B cell adult acute lymphoblastic leukemia|adult B-lymphoblastic leukemia|adult B acute lymphoblastic leukemia|adult B-cell ALL|adult B cell acute lymphocytic leukemia|adult B-cell childhood acute lymphoblastic leukemia|B acute lymphoblastic leukemia|B cell adult acute lymphocytic leukemia|adult B-cell acute lymphoblastic leukemia|adult precursor B-lymphoblastic leukemia|B cell adult ALL|adult B-cell lymphocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0000814	DOID:0060592|UMLS:C0279593|NCIT:C9143	
MONDO:0000813	biolink:Disease	cardiac tuberculosis	Pathological conditions of the cardiovascular system caused by infection of mycobacterium tuberculosis. Tuberculosis involvement may include the heart; the blood vessels; or the pericardium.	MESH:D014381|DOID:0060570|EFO:1001442|UMLS:C0041308	mondo.json	cardiovascular tuberculosis	http://purl.obolibrary.org/obo/MONDO_0000813	DOID:0060570|http://identifiers.org/mesh/D014381|UMLS:C0041308	
MONDO:0000812	biolink:Disease	vertebral column disorder	A disease involving the vertebral column.	ICD9:724.9|UMLS:C0037933|SCTID:699699005|MESH:D013122|DOID:0060564	mondo.json	disease or disorder of vertebral column|disease of vertebral column|vertebral column disease|spinal disease|vertebral column disease or disorder|disease of spine|disorder of vertebral column	http://purl.obolibrary.org/obo/MONDO_0000812	DOID:0060564|http://identifiers.org/mesh/D013122|http://identifiers.org/snomedct/699699005|UMLS:C0037933	
MONDO:0000811	biolink:Disease	anomalous left coronary artery from the pulmonary artery	A congenital coronary vessel anomaly in which the left main coronary artery originates from the pulmonary artery instead of from aorta. The congenital heart defect typically results in coronary artery fistula; left-sided heart failure and mitral valve insufficiency during the first months of life.	MESH:D063748|UMLS:C1735886|DOID:0060562	mondo.json	Bland-White-Garland syndrome|ALCAPA|BWGS|ALCAPA disorder|White-Garland syndrome	http://purl.obolibrary.org/obo/MONDO_0000811	DOID:0060562|http://identifiers.org/mesh/D063748|UMLS:C1735886	
NCBITaxon:77643	biolink:OrganismalEntity	Mycobacterium tuberculosis complex		GC_ID:11|PMID:29205127|PMID:15243089	mondo.json	Mycobacterium complex	http://purl.obolibrary.org/obo/NCBITaxon_77643		
MONDO:0000818	biolink:Disease	obsolete lethal congenital contracture syndrome 4			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000818		
HGNC:4367	biolink:NamedThing	GM2A			mondo.json		http://identifiers.org/hgnc/4367		
MONDO:0000817	biolink:Disease	obsolete MONDO:0000817			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000817		
MONDO:0000816	biolink:Disease	abdominal obesity-metabolic syndrome		MESH:C535554|OMIMPS:605552|EFO:0000195|NCIT:C84442|Orphanet:411969|UMLS:C2930930|ICD10CM:E88.81|DOID:0060611|ICD9:277.7	mondo.json	metabolic syndrome|metabolic syndrome X	http://purl.obolibrary.org/obo/MONDO_0000816	http://identifiers.org/mesh/C535554|DOID:0060611|NCIT:C84442|http://purl.bioontology.org/ontology/ICD10CM/E88.81|UMLS:C2930930|https://omim.org/phenotypicSeries/PS605552|Orphanet:411969	
MONDO:0000815	biolink:Disease	fetal nicotine spectrum disorder	A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy.	DOID:0060606	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000815	DOID:0060606	
MONDO:0000872	biolink:Disease	B-cell childhood acute lymphoblastic leukemia	An acute B-lymphoblastic leukemia occurring in children.	NCIT:C9140|EFO:1001946|UMLS:C0279584|DOID:0080146	mondo.json	B cell pediatric acute lymphocytic leukemia|B-cell pediatric acute lymphogenous leukemia|B cell childhood ALL|B cell childhood acute lymphoblastic leukemia|childhood B acute lymphoblastic leukemia|B-cell childhood acute lymphoid leukemia|B-cell childhood ALL|B-cell childhood acute lymphocytic leukemia|B-cell childhood acute lymphogenous leukemia|B-cell pediatric acute lymphoblastic leukemia|B acute lymphoblastic leukemia|B cell childhood acute lymphocytic leukemia|B cell pediatric acute lymphoblastic leukemia|B cell pediatric ALL|childhood B-ALL|B-cell pediatric acute lymphocytic leukemia|childhood precursor B-lymphoblastic leukemia|B-cell pediatric acute lymphoid leukemia|B-cell pediatric ALL	http://purl.obolibrary.org/obo/MONDO_0000872	UMLS:C0279584|DOID:0080146|NCIT:C9140	
GO:0051038	biolink:NamedThing	negative regulation of transcription involved in meiotic cell cycle	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription involved in the meiotic cell cycle.		mondo.json	down regulation of transcription during meiosis|inhibition of transcription during meiosis|down-regulation of transcription during meiosis|negative regulation of transcription, meiotic|negative regulation of meiotic transcription|downregulation of transcription during meiosis|meiotic repression of transcription	http://purl.obolibrary.org/obo/GO_0051038		
MONDO:0000871	biolink:Disease	T-cell childhood acute lymphocytic leukemia	An acute lymphoblastic leukemia of T-cell origin occurring in children.	DOID:0080145|EFO:1001947|NCIT:C7953|UMLS:C0279583	mondo.json	T-cell childhood acute lymphocytic leukemia|T-cell pediatric acute lymphoblastic leukemia|childhood T acute lymphoblastic leukemia|T-cell childhood ALL|T acute lymphoblastic leukemia|childhood T-ALL|T-cell pediatric acute lymphocytic leukemia|T-cell childhood acute lymphoblastic leukemia|childhood T-cell acute lymphoblastic leukemia|childhood precursor T-lymphoblastic leukemia|T-cell pediatric ALL	http://purl.obolibrary.org/obo/MONDO_0000871	NCIT:C7953|UMLS:C0279583|DOID:0080145	
GO:0051039	biolink:NamedThing	positive regulation of transcription involved in meiotic cell cycle	Any process that activates or increases the frequency, rate or extent of transcription as part of a meiotic cell cycle.		mondo.json	upregulation of transcription during meiosis|positive regulation of meiotic transcription|up regulation of transcription during meiosis|stimulation of transcription during meiosis|positive regulation of transcription, meiotic|up-regulation of transcription during meiosis|activation of transcription during meiosis	http://purl.obolibrary.org/obo/GO_0051039		
MONDO:0000870	biolink:Disease	childhood acute lymphoblastic leukemia	An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias.	DOID:0080144|NCIT:C3168|GARD:0009240	mondo.json	acute lymphoblastic leukemia (ALL)|childhood precursor lymphoblastic leukemia|pediatric acute lymphoblastic leukemia|pediatric ALL|childhood acute lymphocytic leukemia|pediatric acute lymphoid leukemia|pediatric acute lymphogenous leukemia|pediatric acute lymphocytic leukemia (ALL)|pediatric acute lymphocytic leukemia|childhood ALL|childhood acute lymphoid leukemia|childhood acute lymphoblastic leukemia|childhood acute lymphogenous leukemia	http://purl.obolibrary.org/obo/MONDO_0000870	NCIT:C3168|DOID:0080144	gard_rare
GO:0051037	biolink:NamedThing	regulation of transcription involved in meiotic cell cycle	Any process that modulates the frequency, rate or extent of transcription as part of a meiotic cell cycle.		mondo.json	meiotic regulation of transcription|regulation of transcription, meiotic	http://purl.obolibrary.org/obo/GO_0051037		
NCBITaxon:6757	biolink:OrganismalEntity	Portunidae		GC_ID:1	mondo.json	swimming crabs	http://purl.obolibrary.org/obo/NCBITaxon_6757		
MONDO:0000876	biolink:Disease	obsolete herpes simplex virus keratitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000876		
MONDO:0009209	biolink:Disease	autosomal recessive faciodigitogenital syndrome	Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.	OMIM:227330|Orphanet:1974	mondo.json	facio-digito-genital syndrome, Kuwait type|Teebi-Naguib-Alawadi syndrome|Aarskog-like syndrome|Kuwait type faciodigitogenital syndrome|faciodigitogenital syndrome, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009209	https://omim.org/entry/227330|Orphanet:1974	ordo_malformation_syndrome
MONDO:0000875	biolink:Disease	adult acute monocytic leukemia	A acute monocytic leukemia that occurs in an adult.	UMLS:C0280634|DOID:0080149|NCIT:C8263	mondo.json	adult acute differentiated monocytic leukemia (M5b)|adult acute monocytic leukemia|acute monocytic leukemia|M5b adult acute leukemia|acute monocytic leukemia of adults|M5b adult acute differentiated monocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0000875	NCIT:C8263|UMLS:C0280634|DOID:0080149	
MONDO:0009208	biolink:Disease	faciothoracogenital syndrome		MESH:C536387|UMLS:C2931184|GARD:0002228|OMIM:227320	mondo.json	faciothoracogenital syndrome|congenital anomalies, involving mainly the face, thorax, and genitalia|facio thoraco genital syndrome	http://purl.obolibrary.org/obo/MONDO_0009208	UMLS:C2931184|https://omim.org/entry/227320|http://identifiers.org/mesh/C536387	
MONDO:0000874	biolink:Disease	T-cell childhood lymphoblastic lymphoma	A T lymphoblastic lymphoma that occurs during childhood.	EFO:1001948|UMLS:C1332998|NCIT:C7210|DOID:0080148	mondo.json	T lymphoblastic lymphoma|childhood precursor T-lymphoblastic lymphoma|childhood T lymphoblastic lymphoma	http://purl.obolibrary.org/obo/MONDO_0000874	UMLS:C1332998|NCIT:C7210|DOID:0080148	
MONDO:0000873	biolink:Disease	lymphoblastic lymphoma	A lymphoma composed of immature small to medium-sized precursor lymphoid cells (lymphoblasts). It includes the B- and T-cell lymphoblastic lymphoma.	UMLS:C0079748|NCIT:C9360|SCTID:109965004|GARD:0003329|DOID:0080147|ICD9:202.80|ICDO:9727/3	mondo.json	lymphoma, lymphoblastic|precursor lymphoblastic lymphoma|precursor cell lymphoblastic lymphoma|lymphoblastic lymphoma|lymphoma, lymphoblastic, malignant	http://purl.obolibrary.org/obo/MONDO_0000873	UMLS:C0079748|http://identifiers.org/snomedct/109965004|DOID:0080147|NCIT:C9360	gard_rare
MONDO:0009207	biolink:Disease	factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor		UMLS:C1856882|OMIM:227310	mondo.json	factor V and Factor VIII, combined deficiency of, with normal protein c and Protein C inhibitor|factor 5 and Factor VIII, combined deficiency Of, with normal Protein C and Protein C inhibitor	http://purl.obolibrary.org/obo/MONDO_0009207	https://omim.org/entry/227310|UMLS:C1856882	
MONDO:0012858	biolink:Disease	primary CD59 deficiency		UMLS:C2676767|OMIM:612300|MESH:C567355|Orphanet:169464	mondo.json	HACD59|CD59 deficiency|hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy|primary CD59 deficiency	http://purl.obolibrary.org/obo/MONDO_0012858	http://identifiers.org/mesh/C567355|UMLS:C2676767|Orphanet:169464|https://omim.org/entry/612300	ordo_disease
MONDO:0009206	biolink:Disease	factor V and factor VIII, combined deficiency of, type 1	Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene.	SCTID:84048006|OMIM:227300	mondo.json	combined factor V and VIII deficiency|factor V and factor VIII, combined deficiency of, 1|combined deficiency of factor V and factor VIII caused by mutation in LMAN1|factor 5 and Factor VIII, combined deficiency of, 1|factor V and factor VIII, combined deficiency of, type 1|F5F8D1|familial multiple coagulation Factor deficiency 1|multiple coagulation Factor deficiency 1|FMFD 1|LMAN1 combined deficiency of factor V and factor VIII	http://purl.obolibrary.org/obo/MONDO_0009206	https://omim.org/entry/227300|http://identifiers.org/snomedct/84048006	
MONDO:0009205	biolink:Disease	faciocardiorenal syndrome	Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.	UMLS:C0795936|GARD:0002230|OMIM:227280|Orphanet:1973|SCTID:723333000|MESH:C536388	mondo.json	Eastman-Bixler syndrome|faciocardiorenal syndrome|Eastman Bixler syndrome	http://purl.obolibrary.org/obo/MONDO_0009205	https://omim.org/entry/227280|UMLS:C0795936|http://identifiers.org/mesh/C536388|Orphanet:1973|http://identifiers.org/snomedct/723333000	ordo_malformation_syndrome|gard_rare
MONDO:0012859	biolink:Disease	autosomal recessive osteopetrosis 7	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene.	OMIM:612301|GARD:0010106|UMLS:C2676766|DOID:0110946|MESH:C567354|Orphanet:178389	mondo.json	osteopetrosis autosomal recessive 7|osteopetrosis-hypogammaglobulinemia syndrome|autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia|osteoclast-poor osteopetrosis with hypogammaglobulinemia|OPTB7|osteopetrosis (disease) caused by mutation in TNFRSF11A|osteopetrosis, autosomal recessive type 7|osteopetrosis, osteoclast-poor, with hypogammaglobulinemia|autosomal recessive osteopetrosis type 7|osteopetrosis, autosomal recessive 7|osteopetrosis osteoclast-poor with hypogammaglobulinemia|TNFRSF11A osteopetrosis (disease)	http://purl.obolibrary.org/obo/MONDO_0012859	http://identifiers.org/mesh/C567354|Orphanet:178389|UMLS:C2676766|DOID:0110946|https://omim.org/entry/612301	ordo_disease|gard_rare
UBERON:0006082	biolink:AnatomicalEntity	fundus of urinary bladder			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006082		
MONDO:0012856	biolink:Disease	Birk-Barel syndrome	Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing).	GARD:0010358|UMLS:C2676770|DOID:0050675|MESH:C567357|OMIM:612292|Orphanet:166108|SCTID:764861005	mondo.json	BIRK-Barel intellectual disability dysmorphism syndrome|intellectual disability-hypotonia-facial dysmorphism syndrome|intellectual disability, Birk-Barel type|mental retardation with hypotonia and Facial Dysmorphism|BIRK-Barel mental retardation dysmorphism syndrome|intellectual disability with hypotonia and Facial Dysmorphism|Birk-Barel syndrome|Birk Barel mental retardation dysmorphism syndrome|Birk Barel intellectual disability dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0012856	http://identifiers.org/mesh/C567357|UMLS:C2676770|DOID:0050675|http://identifiers.org/snomedct/764861005|https://omim.org/entry/612292|Orphanet:166108	ordo_disease|gard_rare
MONDO:0009204	biolink:Disease	lethal faciocardiomelic dysplasia	Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome.	OMIM:227270|Orphanet:1972|GARD:0002229|MESH:C565578|UMLS:C1856891|SCTID:719400000	mondo.json	faciocardiomelic dysplasia lethal|faciocardiomelic dysplasia, lethal	http://purl.obolibrary.org/obo/MONDO_0009204	https://omim.org/entry/227270|Orphanet:1972|http://identifiers.org/mesh/C565578|UMLS:C1856891|http://identifiers.org/snomedct/719400000	ordo_malformation_syndrome|gard_rare
MONDO:0012857	biolink:Disease	porokeratosis 5, disseminated superficial actinic type		MESH:C567356|UMLS:C2676769|OMIM:612293	mondo.json	porokeratosis 5, disseminated superficial actinic|porokeratosis 5, disseminated superficial actinic type|POROK5|porokeratosis, disseminated superficial actinic, 3	http://purl.obolibrary.org/obo/MONDO_0012857	http://identifiers.org/mesh/C567356|UMLS:C2676769|https://omim.org/entry/612293	
MONDO:0009203	biolink:Disease	focal facial dermal dysplasia type III	Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.	OMIM:227260|Orphanet:1807|SCTID:403771007|GARD:0000121	mondo.json	facial ectodermal dysplasia|FFDD type 2|FFDD3|bitemporal forceps Marks syndrome|FFDD type III|focal facial dermal dysplasia 3, Setleis type|focal facial dermal dysplasia type 2|focal Facial dermal dysplasia, type II, formerly|Setleis syndrome|bitemporal forceps marks syndrome|focal facial dermal dysplasia type III|focal Facial dermal dysplasia, type II	http://purl.obolibrary.org/obo/MONDO_0009203	https://omim.org/entry/227260|http://identifiers.org/snomedct/403771007|Orphanet:1807	gard_rare|ordo_clinical_subtype
MONDO:0009202	biolink:Disease	Thakker-Donnai syndrome		Orphanet:1780|UMLS:C2931219|MESH:C536503|OMIM:227255|GARD:0005158	mondo.json	Dysmorphism-multiple structural anomalies syndrome|Dysmorphism multiple structural anomalies|facial dysmorphism with multiple malformations|dysmorphic facial features and multiple structural abnormalities	http://purl.obolibrary.org/obo/MONDO_0009202	https://omim.org/entry/227255|http://identifiers.org/mesh/C536503|Orphanet:1780|UMLS:C2931219	gard_rare|ordo_malformation_syndrome
MONDO:0009201	biolink:Disease	facial abnormalities, kyphoscoliosis, and intellectual disability		OMIM:227250|UMLS:C1856893|MESH:C565580	mondo.json	facial abnormalities, kyphoscoliosis, and intellectual disability|facial abnormalities, kyphoscoliosis, and mental retardation	http://purl.obolibrary.org/obo/MONDO_0009201	https://omim.org/entry/227250|http://identifiers.org/mesh/C565580|UMLS:C1856893	
MONDO:0009200	biolink:Disease	eyebrow duplication-syndactyly syndrome	Eyebrow duplication-syndactyly syndrome is characterised by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive.	MESH:C536383|Orphanet:3172|GARD:0002216|UMLS:C1856896|OMIM:227210	mondo.json	eyebrows, DUPLICATION of, with stretchable skin and syndactyly|eyebrows duplication of, with stretchable skin and syndactyly	http://purl.obolibrary.org/obo/MONDO_0009200	Orphanet:3172|https://omim.org/entry/227210|http://identifiers.org/mesh/C536383|UMLS:C1856896	ordo_malformation_syndrome
MONDO:0012861	biolink:Disease	premature ovarian failure 6	Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene.	UMLS:C2676742|OMIM:612310|MESH:C567351	mondo.json	premature ovarian failure type 6|FIGLA primary ovarian failure|primary ovarian failure caused by mutation in FIGLA|Pof6|premature ovarian failure 6	http://purl.obolibrary.org/obo/MONDO_0012861	https://omim.org/entry/612310|http://identifiers.org/mesh/C567351|UMLS:C2676742	
MONDO:0012862	biolink:Disease	attention deficit-hyperactivity disorder, susceptibility to, 5		OMIM:612311	mondo.json	attention deficit-hyperactivity disorder, susceptibility to, 5|motor timing quantitative trait locus|attention Deficit-hyperactivity disorder, susceptibility to, type 5|ADHD5	http://purl.obolibrary.org/obo/MONDO_0012862	https://omim.org/entry/612311	predisposition
MONDO:0010200	biolink:Disease	Wilson disease	A very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.	MESH:D006527|SCTID:88518009|UMLS:C0019202|NCIT:C84756|DOID:893|GARD:0007893|Orphanet:905|MedDRA:10019819|OMIM:277900	mondo.json	Westphal pseudosclerosis|WD|hepatolenticular degeneration|hepatolenticular Degeneration|cerebral pseudosclerosis|Wnd|Wilson disease|Wilson's disease|Westphal-Strumpell syndrome	http://purl.obolibrary.org/obo/MONDO_0010200	DOID:893|http://identifiers.org/snomedct/88518009|Orphanet:905|UMLS:C0019202|http://identifiers.org/mesh/D006527|https://omim.org/entry/277900|NCIT:C84756	ordo_disease|gard_rare|clingen
MONDO:0012860	biolink:Disease	thrombophilia due to protein C deficiency, autosomal recessive		OMIM:612304|MESH:C567353|GARD:0013041|UMLS:C2676759	mondo.json	Proc deficiency, autosomal recessive|Protein C deficiency, autosomal recessive|thrombophilia due to protein C deficiency, autosomal recessive|thrombophilia due to PROTEIN C deficiency, autosomal recessive|hereditary thrombophilia due to PC deficiency|autosomal recessive protein C deficiency|THPH4|hereditary thrombophilia due to congenital protein C deficiency|thrombophilia 3 due to protein C deficiency, autosomal recessive|autosomal recessive hereditary thrombophilia due to protein C deficiency	http://purl.obolibrary.org/obo/MONDO_0012860	https://omim.org/entry/612304|http://identifiers.org/mesh/C567353|UMLS:C2676759	gard_rare
MONDO:0012865	biolink:Disease	Pseudofolliculitis barbae		ICD10CM:L73.1|UMLS:C0549150|OMIM:612318|MESH:C563016	mondo.json	pili Incarnati|Pseudofolliculitis barbae|PFB|ingrown hairs|pseudofolliculitis barbae, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0012865	UMLS:C0549150|http://purl.bioontology.org/ontology/ICD10CM/L73.1|http://identifiers.org/mesh/C563016|https://omim.org/entry/612318	
MONDO:0010202	biolink:Disease	obsolete Wiskott-Aldrich syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010202		
MONDO:0010201	biolink:Disease	Winchester syndrome		ICD9:733.29|UMLS:CN204453|Orphanet:371428|SCTID:254151006|Orphanet:3460|MESH:C536709|GARD:0007894|OMIM:277950	mondo.json	multicentric osteolysis, nodulosis and arthropathy|Winchester syndrome|NOA syndrome|Al-Qeel Sewairi syndrome|Torg Winchester syndrome|WNCHRS|nodulosis arthropathy osteolysis syndrome|Winchester-Grossman syndrome	http://purl.obolibrary.org/obo/MONDO_0010201	http://identifiers.org/mesh/C536709|http://identifiers.org/snomedct/254151006|https://omim.org/entry/277950|UMLS:CN204453	
MONDO:0012866	biolink:Disease	hereditary spastic paraplegia 35	Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.	SCTID:764688002|MESH:C567311|UMLS:C3496228|DOID:0110786|Orphanet:171629|OMIM:612319	mondo.json	SPG35|autosomal recessive spastic paraplegia type 35|leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia|spastic paraplegia 35, autosomal recessive|autosomal recessive spastic paraplegia 35|FA2H hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in FA2H|leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia|hereditary spastic paraplegia type 35|hereditary spastic paraplegia 35	http://purl.obolibrary.org/obo/MONDO_0012866	DOID:0110786|http://identifiers.org/snomedct/764688002|https://omim.org/entry/612319|Orphanet:171629|UMLS:C3496228|http://identifiers.org/mesh/C567311	ordo_disease
GO:1905207	biolink:NamedThing	regulation of cardiocyte differentiation	Any process that modulates the frequency, rate or extent of cardiocyte differentiation.		mondo.json	regulation of cardiac cell differentiation|regulation of heart cell differentiation	http://purl.obolibrary.org/obo/GO_1905207		
MONDO:0010204	biolink:Disease	lysosomal acid lipase deficiency	Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease, or 2) a less severe form, cholesteryl ester storage disease, of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis.	GARD:0012097|Orphanet:275761|OMIM:278000|DOID:0080217|MESH:C531854|SCTID:715923003	mondo.json	lysosomal acid lipase deficiency|LAL deficiency|Wolman disease|cholesterol ester hydrolase deficiency|cholesteryl ester storage disease|lysosomal and lipase deficiency|lipa deficiency	http://purl.obolibrary.org/obo/MONDO_0010204	DOID:0080217|https://omim.org/entry/278000|http://identifiers.org/snomedct/715923003|Orphanet:275761|http://identifiers.org/mesh/C531854	ordo_disease
MONDO:0012863	biolink:Disease	attention deficit-hyperactivity disorder, susceptibility to, 6		OMIM:612312	mondo.json	digit span quantitative trait locus|attention deficit-hyperactivity disorder, susceptibility to, 6|attention Deficit-hyperactivity disorder, susceptibility to, type 6|ADHD6	http://purl.obolibrary.org/obo/MONDO_0012863	https://omim.org/entry/612312	predisposition
GO:1905208	biolink:NamedThing	negative regulation of cardiocyte differentiation	Any process that stops, prevents or reduces the frequency, rate or extent of cardiocyte differentiation.		mondo.json	down regulation of cardiocyte differentiation|down regulation of heart cell differentiation|inhibition of cardiocyte differentiation|inhibition of heart cell differentiation|downregulation of cardiac cell differentiation|down-regulation of cardiocyte differentiation|down-regulation of heart cell differentiation|negative regulation of heart cell differentiation|down regulation of cardiac cell differentiation|inhibition of cardiac cell differentiation|negative regulation of cardiac cell differentiation|down-regulation of cardiac cell differentiation|downregulation of cardiocyte differentiation|downregulation of heart cell differentiation	http://purl.obolibrary.org/obo/GO_1905208		
MONDO:0012864	biolink:Disease	chromosome 2q32-q33 deletion syndrome	2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.	Orphanet:251019|OMIM:612313|MESH:C567350|SCTID:719659003|Orphanet:576283|DOID:0060428|GARD:0013206|UMLS:C4304531|UMLS:C2676739	mondo.json	SATB2 syndrome|monosomy 2q32-q33|glass|monosomy 2q32|glass syndrome|2q32q33 microdeletion syndromes|SATB2-associated syndrome|monosomy 2q32q33|Del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|2q32-q33 microdeletion syndrome|SAS|Del(2)(q32)|2q32q33 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0012864	UMLS:C2676739|UMLS:C4304531|Orphanet:251019|DOID:0060428|http://identifiers.org/snomedct/719659003|https://omim.org/entry/612313|Orphanet:576283|http://identifiers.org/mesh/C567350	gard_rare|ordo_malformation_syndrome
GO:1905209	biolink:NamedThing	positive regulation of cardiocyte differentiation	Any process that activates or increases the frequency, rate or extent of cardiocyte differentiation.		mondo.json	up regulation of cardiac cell differentiation|up-regulation of cardiac cell differentiation|upregulation of cardiocyte differentiation|activation of cardiac cell differentiation|upregulation of heart cell differentiation|positive regulation of heart cell differentiation|up regulation of cardiocyte differentiation|upregulation of cardiac cell differentiation|up regulation of heart cell differentiation|up-regulation of cardiocyte differentiation|up-regulation of heart cell differentiation|positive regulation of cardiac cell differentiation|activation of cardiocyte differentiation|activation of heart cell differentiation	http://purl.obolibrary.org/obo/GO_1905209		
MONDO:0010203	biolink:Disease	intellectual disability, Wolff type	Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.	OMIM:277990|MESH:C537448|Orphanet:3080|UMLS:C1848439	mondo.json	Wolff-Zimmermann syndrome|WOLFF intellectual disability syndrome|WOLFF mental retardation syndrome	http://purl.obolibrary.org/obo/MONDO_0010203	http://identifiers.org/mesh/C537448|https://omim.org/entry/277990|UMLS:C1848439|Orphanet:3080	ordo_malformation_syndrome
MONDO:0000869	biolink:Disease	obsolete congenital fibrosis of the extraocular muscles			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000869		
MONDO:0000868	biolink:Disease	obsolete mitochondrial DNA depletion syndrome 6			mondo.json	MTDPS6|mitochondrial DNA depletion syndrome type 6	http://purl.obolibrary.org/obo/MONDO_0000868		
MONDO:0000867	biolink:Disease	obsolete multiple pterygium syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000867		
MONDO:0000866	biolink:Disease	myoglobinuria		ICD10CM:R82.1|HP:0002913|MESH:D009212|NCIT:C114705|DOID:0080108	mondo.json	myoglobinurias	http://purl.obolibrary.org/obo/MONDO_0000866	DOID:0080108|http://identifiers.org/mesh/D009212|NCIT:C114705|http://purl.bioontology.org/ontology/ICD10CM/R82.1	
NCBITaxon:6760	biolink:OrganismalEntity	Scylla		GC_ID:1	mondo.json	mud crabs|mangrove crabs	http://purl.obolibrary.org/obo/NCBITaxon_6760		
MONDO:0000883	biolink:Disease	obsolete myeloid neoplasms associated with PDGFRB rearrangement			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000883		
GO:0051049	biolink:NamedThing	regulation of transport	Any process that modulates the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0051049		
MONDO:0000882	biolink:Disease	obsolete myeloid and lymphoid neoplasms associated with PDGFRA rearrangement			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000882		
MONDO:0000881	biolink:Disease	obsolete myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000881		
GO:0051047	biolink:NamedThing	positive regulation of secretion	Any process that activates or increases the frequency, rate or extent of the controlled release of a substance from a cell or a tissue.		mondo.json	stimulation of secretion|upregulation of secretion|up-regulation of secretion|up regulation of secretion|activation of secretion	http://purl.obolibrary.org/obo/GO_0051047		
GO:0051048	biolink:NamedThing	negative regulation of secretion	Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of a substance from a cell or a tissue.		mondo.json	down-regulation of secretion|down regulation of secretion|inhibition of secretion|downregulation of secretion	http://purl.obolibrary.org/obo/GO_0051048		
NCBITaxon:4107	biolink:OrganismalEntity	Solanum		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_4107		
MONDO:0000880	biolink:Disease	obsolete lupus nephritis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000880		
MONDO:0000887	biolink:Disease	obsolete hepatic veno-occlusive disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000887		
MONDO:0000886	biolink:Disease	obsolete meningococcal meningitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000886		
MONDO:0009219	biolink:Disease	fascial dystrophy, congenital		OMIM:228020|MESH:C563219|ICD9:709.8|SCTID:399948007	mondo.json	fascial dystrophy, congenital	http://purl.obolibrary.org/obo/MONDO_0009219	https://omim.org/entry/228020|http://identifiers.org/snomedct/399948007|http://identifiers.org/mesh/C563219	
MONDO:0000885	biolink:Disease	obsolete cloacal exstrophy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000885		
MONDO:0009218	biolink:Disease	Farber lipogranulomatosis	A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.	MESH:D055577|ICD9:272.8|SCTID:79935000|UMLS:C0268255|UMLS:CN204335|GARD:0006426|NCIT:C84710|DOID:0050464|Orphanet:333|OMIM:228000	mondo.json	Farber's disease|N-Laurylsphingosine deacylase deficiency|AC deficiency|Farber disease|FRBRL|acid ceramidase deficiency|N-LAURYLSPHINGOSINE deacylase deficiency|Farber lipogranulomatosis|ceramidase deficiency	http://purl.obolibrary.org/obo/MONDO_0009218	https://omim.org/entry/228000|UMLS:CN204335|UMLS:C0268255|NCIT:C84710|http://identifiers.org/mesh/D055577|DOID:0050464|Orphanet:333|http://identifiers.org/snomedct/79935000	ordo_disease
MONDO:0000884	biolink:Disease	myeloid and lymphoid neoplasms associated with FGFR1 abnormalities		NCIT:C84277|DOID:0080167	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000884	DOID:0080167	
MONDO:0012847	biolink:Disease	autosomal recessive congenital ichthyosis 6	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene.	OMIM:612281|UMLS:C2677065|DOID:0060715	mondo.json	ichthyosis, congenital, autosomal recessive, Nipal4-related|ARCI6|ichthyosis, congenital, autosomal recessive 6|autosomal recessive congenital ichthyosis type 6|ichthyosis, congenital, autosomal recessive type 6	http://purl.obolibrary.org/obo/MONDO_0012847	UMLS:C2677065|DOID:0060715|https://omim.org/entry/612281	
MONDO:0009217	biolink:Disease	Fanconi-like syndrome	A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.	OMIM:227850|MESH:C536855|SCTID:236469003|DOID:0090066|UMLS:C0151638	mondo.json	Fanconi-like syndrome	http://purl.obolibrary.org/obo/MONDO_0009217	https://omim.org/entry/227850|UMLS:C0151638|DOID:0090066|http://identifiers.org/mesh/C536855|http://identifiers.org/snomedct/236469003	
UBERON:0006072	biolink:AnatomicalEntity	cervical region of vertebral column			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006072		
MONDO:0009216	biolink:Disease	glycogen storage disease due to GLUT2 deficiency	Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.	Orphanet:2088|OMIM:227810|SCTID:61598006|GARD:0002268	mondo.json	glycogenosis, Fanconi type|pseudo-phlorizin diabetes|Fanconi-Bickel disease|Fanconi syndrome with intestinal malabsorption and galactose intolerance|hepatorenal glycogenosis with renal fanconi syndrome|FBS|GLUT2 deficiency|glycogen storage disease XI|Fanconi Bickel syndrome|glycogenosis due to GLUT2 deficiency|glycogenosis Fanconi EXACT|glycogen storage disease 11|hepatic glycogenosis with Fanconi nephropathy|hepatorenal glycogenosis with renal Fanconi syndrome|GSD type XI|GSD due to GLUT2 deficiency|glycogen storage disease type XI|GSD type 11|Fanconi-Bickel syndrome|Bickel-Fanconi glycogenosis|glycogen storage disease type 11|hepatic glycogenosis with amino aciduria and glucosuria|glycogen storage disease due to GLUT2 deficiency	http://purl.obolibrary.org/obo/MONDO_0009216	Orphanet:2088|https://omim.org/entry/227810|http://identifiers.org/snomedct/61598006	ordo_disease|gard_rare
MONDO:0012848	biolink:Disease	Meckel syndrome, type 6	Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene.	DOID:0070120|MESH:C567365|UMLS:C2676790|OMIM:612284	mondo.json	Meckel syndrome caused by mutation in CC2D2A|MKS6|Meckel syndrome, type 6|Meckel syndrome 6|Meckel-Gruber syndrome, type 6|CC2D2A Meckel syndrome	http://purl.obolibrary.org/obo/MONDO_0012848	http://identifiers.org/mesh/C567365|UMLS:C2676790|https://omim.org/entry/612284|DOID:0070120	
UBERON:0006071	biolink:AnatomicalEntity	caudal region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006071		
MONDO:0012845	biolink:Disease	inflammatory bowel disease 19	Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRGM gene.	DOID:0110890|UMLS:C2677079|OMIM:612278|MESH:C567372	mondo.json	IBD19|inflammatory bowel disease type 19|inflammatory bowel disease caused by mutation in IRGM|IRGM inflammatory bowel disease|inflammatory bowel disease (Crohn disease) 19|inflammatory bowel disease 19	http://purl.obolibrary.org/obo/MONDO_0012845	http://identifiers.org/mesh/C567372|DOID:0110890|https://omim.org/entry/612278|UMLS:C2677079	
MONDO:0009215	biolink:Disease	Fanconi anemia complementation group A	Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.	NCIT:C125702|EFO:0009044|OMIM:227650|DOID:0111095|UMLS:CN653908|GTR:AN1051558	mondo.json	Fanconi Anemia, complementation group type a|FANCA|Estren-Dameshek variant of Fanconi Anemia|Fanconi anemia complementation group type A|Fanconi anemia complementation group A|Fanconi Anemia, Estren-Dameshek variant|FANCA Fanconi anemia|Fanconi Anemia|Fanconi anemia, complementation group A|Fanconi anemia caused by mutation in FANCA|Estren-Dameshek variant of Fanconi pancytopenia	http://purl.obolibrary.org/obo/MONDO_0009215	https://omim.org/entry/227650|UMLS:CN653908|DOID:0111095|NCIT:C125702	
MONDO:0009214	biolink:Disease	Fanconi anemia complementation group D2	Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.	DOID:0111083|NCIT:C125706|UMLS:C3160738|OMIM:227646	mondo.json	Fanconi anemia, complementation group D2|Fanconi pancytopenia type 4|Fanconi pancytopenia, type 4|Fanconi Anemia, complementation group D|Fad2|Fanconi anemia complementation group D2|FANCD2|FA4|FAD2	http://purl.obolibrary.org/obo/MONDO_0009214	https://omim.org/entry/227646|DOID:0111083|UMLS:C3160738|NCIT:C125706	
MONDO:0012846	biolink:Disease	generalized epilepsy with febrile seizures plus, type 6		OMIM:612279|DOID:0111300|UMLS:C2677078|MESH:C567371	mondo.json	GEFSP6|Gefs+, type 6|generalized epilepsy with febrile seizures plus, type 6	http://purl.obolibrary.org/obo/MONDO_0012846	http://identifiers.org/mesh/C567371|DOID:0111300|https://omim.org/entry/612279|UMLS:C2677078	
MONDO:0009213	biolink:Disease	Fanconi anemia complementation group C	Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.	DOID:0111087|UMLS:C3468041|OMIM:227645|NCIT:C125704	mondo.json	Fanconi anemia complementation group type C|Fanconi anemia complementation group C|Fanconi Anemia, complementation group type C|FANCC|facc|FACC|Fanconi pancytopenia, type 3|FA3|Fanconi pancytopenia type 3|Fanconi anemia, complementation group C	http://purl.obolibrary.org/obo/MONDO_0009213	https://omim.org/entry/227645|DOID:0111087|NCIT:C125704|UMLS:C3468041	
IAO:0010000	biolink:NamedThing	has axiom label			mondo.json		http://purl.obolibrary.org/obo/IAO_0010000		
MONDO:0009212	biolink:Disease	congenital factor X deficiency	Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.	OMIM:227600|ICD9:286.3|GARD:0006404|DOID:2222|Orphanet:328|SCTID:37350004|NCIT:C98940	mondo.json	congenital factor X deficiency|Stuart-Prower Factor deficiency|factor X deficiency, congenital|disease, Stuart-Prower|congenital Stuart factor deficiency|hereditary Factor X deficiency|factor 10 deficiency|Stuart factor deficiency, congenital|Stuart-Prower factor deficiency|F10 deficiency|factor X deficiency	http://purl.obolibrary.org/obo/MONDO_0009212	https://omim.org/entry/227600|http://identifiers.org/snomedct/37350004|Orphanet:328|DOID:2222|NCIT:C98940	ordo_disease
MONDO:0009211	biolink:Disease	congenital factor VII deficiency	Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor.	UMLS:C1394919|DOID:2215|GARD:0002238|OMIM:227500|MedDRA:10016079|Orphanet:327|NCIT:C131631	mondo.json	congenital proconvertin deficiency|F7 deficiency|factor VII deficiency|factor 7 deficiency|congenital factor VII deficiency|hypoproconvertinemia	http://purl.obolibrary.org/obo/MONDO_0009211	UMLS:C1394919|https://omim.org/entry/227500|Orphanet:327|DOID:2215|NCIT:C131631	ordo_disease
MONDO:0012849	biolink:Disease	Joubert syndrome 9	Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene.	UMLS:C2676788|MESH:C567364|OMIM:612285|DOID:0111004	mondo.json	Joubert syndrome 9|Joubert syndrome 9/15, digenic|JBTS9|Joubert syndrome caused by mutation in CC2D2A|Joubert syndrome type 9|CC2D2A Joubert syndrome	http://purl.obolibrary.org/obo/MONDO_0012849	http://identifiers.org/mesh/C567364|UMLS:C2676788|DOID:0111004|https://omim.org/entry/612285	
MONDO:0009210	biolink:Disease	congenital factor V deficiency	Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.	OMIM:227400|MESH:D005166|DOID:2216|UMLS:C0015499|GARD:0002237|MedDRA:10048930|SCTID:88776002|NCIT:C98938|Orphanet:326	mondo.json	hereditary hypoproaccelerinaemia|Parahemophilia|factor 5 deficiency|Proaccelerin deficiency|hereditary factor V deficiency|factor V deficiency|Owren disease|deficiency, labile|hereditary Factor V deficiency|congenital factor V deficiency|labile factor deficiency|labile Factor deficiency|Owren Parahemophilia	http://purl.obolibrary.org/obo/MONDO_0009210	https://omim.org/entry/227400|UMLS:C0015499|http://identifiers.org/snomedct/88776002|Orphanet:326|DOID:2216|http://identifiers.org/mesh/D005166|NCIT:C98938	ordo_disease|gard_rare
MONDO:0012850	biolink:Disease	hypophosphatemic nephrolithiasis/osteoporosis 1		UMLS:C2676786|OMIM:612286|DOID:0080077|MESH:C567363	mondo.json	nephrolithiasis/osteoporosis, hypophosphatemic, type 1|NPHLOP1|hypophosphatemic nephrolithiasis/osteoporosis type 1|nephrolithiasis/osteoporosis, hypophosphatemic, 1	http://purl.obolibrary.org/obo/MONDO_0012850	UMLS:C2676786|https://omim.org/entry/612286|http://identifiers.org/mesh/C567363|DOID:0080077	
GO:1905213	biolink:NamedThing	negative regulation of mitotic chromosome condensation	Any process that stops, prevents or reduces the frequency, rate or extent of mitotic chromosome condensation.		mondo.json		http://purl.obolibrary.org/obo/GO_1905213		
MONDO:0012851	biolink:Disease	hypophosphatemic nephrolithiasis/osteoporosis 2		OMIM:612287|DOID:0080078|UMLS:C2676782|MESH:C567362	mondo.json	NPHLOP2|nephrolithiasis/osteoporosis, hypophosphatemic, type 2|hypophosphatemic nephrolithiasis/osteoporosis type 2|nephrolithiasis/osteoporosis, hypophosphatemic, 2	http://purl.obolibrary.org/obo/MONDO_0012851	UMLS:C2676782|https://omim.org/entry/612287|DOID:0080078|http://identifiers.org/mesh/C567362	
GO:1905214	biolink:NamedThing	regulation of RNA binding	Any process that modulates the frequency, rate or extent of RNA binding.		mondo.json		http://purl.obolibrary.org/obo/GO_1905214		
HGNC:4385	biolink:NamedThing	GNAI2			mondo.json		http://identifiers.org/hgnc/4385		
GO:1905215	biolink:NamedThing	negative regulation of RNA binding	Any process that stops, prevents or reduces the frequency, rate or extent of RNA binding.		mondo.json	down-regulation of RNA binding|down regulation of RNA binding|inhibition of RNA binding|downregulation of RNA binding	http://purl.obolibrary.org/obo/GO_1905215		
GO:1905216	biolink:NamedThing	positive regulation of RNA binding	Any process that activates or increases the frequency, rate or extent of RNA binding.		mondo.json	activation of RNA binding|upregulation of RNA binding|up-regulation of RNA binding|up regulation of RNA binding	http://purl.obolibrary.org/obo/GO_1905216		
UBERON:0006077	biolink:AnatomicalEntity	subdivision of vertebral column			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006077		
MONDO:0012854	biolink:Disease	bilateral microtia-deafness-cleft palate syndrome	This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	MESH:C567359|UMLS:C2676772|Orphanet:140963|OMIM:612290	mondo.json	microtia, hearing impairment, and cleft palate|microtia with or without hearing impairment|microtia with or without hearing impairment (AD)|microtia, hearing impairment, and cleft palate (AR)	http://purl.obolibrary.org/obo/MONDO_0012854	UMLS:C2676772|Orphanet:140963|https://omim.org/entry/612290|http://identifiers.org/mesh/C567359	ordo_malformation_syndrome
UBERON:0006076	biolink:AnatomicalEntity	caudal region of vertebral column			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006076		
MONDO:0012855	biolink:Disease	Joubert syndrome 8	Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene.	UMLS:C2676771|OMIM:612291|MESH:C567358|DOID:0111003	mondo.json	ARL13B Joubert syndrome|Joubert syndrome caused by mutation in ARL13B|Joubert syndrome type 8|JBTS8|Joubert syndrome 8	http://purl.obolibrary.org/obo/MONDO_0012855	http://identifiers.org/mesh/C567358|DOID:0111003|UMLS:C2676771|https://omim.org/entry/612291	
UBERON:0006075	biolink:AnatomicalEntity	sacral region of vertebral column			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006075		
MONDO:0012852	biolink:Disease	inflammatory bowel disease 20	An inflammatory bowel disease that has material basis in variation in the chromosome region 10q23-q24.	OMIM:612288|DOID:0110898|UMLS:C2676781|MESH:C567361	mondo.json	inflammatory bowel disease type 20|inflammatory bowel disease 20|IBD20	http://purl.obolibrary.org/obo/MONDO_0012852	UMLS:C2676781|DOID:0110898|https://omim.org/entry/612288|http://identifiers.org/mesh/C567361	
UBERON:0006074	biolink:AnatomicalEntity	lumbar region of vertebral column			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006074		
MONDO:0012853	biolink:Disease	Fontaine progeroid syndrome	A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.	SCTID:205800003|MESH:C537290|OMIM:612289|Orphanet:2963|GARD:0000066|Orphanet:2095|GARD:0004497|UMLS:C2931653|UMLS:C0345382|ICD9:759.89|OMIM:233500	mondo.json	progeroid syndrome congenital Petty type|Petty-Laxova-Wiedemann syndrome|dental and eye anomalies, patent ductus arteriosus, and normal intelligence|Gorlin-Chaudhry-Moss syndrome|craniofacial dysostosis-genital, dental, cardiac anomalies syndrome|craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies|Gorlin Chaudhry Moss syndrome|progeroid syndrome Petty type|progeroid syndrome, Petty type|Petty syndrome|Fontaine progeroid syndrome|FPS|dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome|craniofacial dysostosis, hypertrichosis, Hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence|cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome|craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora|GCM syndrome|Petty Laxova Wiedemann syndrome|GCMS|progeroid syndrome, congenital, Petty type	http://purl.obolibrary.org/obo/MONDO_0012853	http://identifiers.org/mesh/C537290|Orphanet:2963|http://identifiers.org/snomedct/205800003|https://omim.org/entry/233500|UMLS:C2931653|https://omim.org/entry/612289|Orphanet:2095	ordo_disorder|ordo_malformation_syndrome|gard_rare
UBERON:0006073	biolink:AnatomicalEntity	thoracic region of vertebral column			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006073		
NCBITaxon:6774	biolink:OrganismalEntity	Portunoidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6774		
MONDO:0000879	biolink:Disease	cutaneous candidiasis	Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed)	MESH:D002179|DOID:0080161|UMLS:C0006846	mondo.json	zone of skin candidiasis	http://purl.obolibrary.org/obo/MONDO_0000879	DOID:0080161|UMLS:C0006846|http://identifiers.org/mesh/D002179	
MONDO:0000878	biolink:Disease	cytomegalovirus retinitis	Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in aids patients and can cause blindness.	EFO:1001302|NCIT:C50521|DOID:0080160|UMLS:C0206178|GARD:0009531|SCTID:22455005|MESH:D017726	mondo.json	Cytomegalovirus retinitis|cytomegalovirus retinitis|Cytomegaloviral Retinitis|Cytomegalovirus caused retinitis|CMV retinitis|Retinitis, Cytomegaloviral	http://purl.obolibrary.org/obo/MONDO_0000878	DOID:0080160|UMLS:C0206178|NCIT:C50521|http://identifiers.org/snomedct/22455005|http://identifiers.org/mesh/D017726	gard_rare
MONDO:0000877	biolink:Disease	obsolete Cryptococcal meningitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000877		
HGNC:4389	biolink:NamedThing	GNAO1			mondo.json		http://identifiers.org/hgnc/4389		
GO:0051046	biolink:NamedThing	regulation of secretion	Any process that modulates the frequency, rate or extent of the controlled release of a substance from a cell or a tissue.		mondo.json		http://purl.obolibrary.org/obo/GO_0051046		
HGNC:4388	biolink:NamedThing	GNAL			mondo.json		http://identifiers.org/hgnc/4388		
HGNC:4387	biolink:NamedThing	GNAI3			mondo.json		http://identifiers.org/hgnc/4387		
MONDO:0000850	biolink:Disease	obsolete hypochondroplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000850		
GO:0051058	biolink:NamedThing	negative regulation of small GTPase mediated signal transduction	Any process that stops, prevents, or reduces the frequency, rate or extent of small GTPase mediated signal transduction.		mondo.json	negative regulation of small GTPase-mediated signal transduction|down regulation of small GTPase mediated signal transduction|downregulation of small GTPase mediated signal transduction|inhibition of small GTPase mediated signal transduction|down-regulation of small GTPase mediated signal transduction	http://purl.obolibrary.org/obo/GO_0051058		
MONDO:0000854	biolink:Disease	obsolete Stickler syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000854		
MONDO:0000853	biolink:Disease	obsolete Kniest dysplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000853		
MONDO:0000852	biolink:Disease	obsolete hypochondrogenesis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000852		
MONDO:0000851	biolink:Disease	obsolete achondrogenesis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000851		
MONDO:0012836	biolink:Disease	systemic lupus erythematosus, susceptibility to, 12		OMIM:612254	mondo.json	systemic lupus erythematosus, susceptibility to, 12|SLEB12	http://purl.obolibrary.org/obo/MONDO_0012836	https://omim.org/entry/612254	predisposition
UBERON:0006061	biolink:AnatomicalEntity	process of vertebra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006061		
MONDO:0012837	biolink:Disease	inflammatory bowel disease 15	An inflammatory bowel disease that has material basis in variation in the chromosome region 10q21.	MESH:C567381|UMLS:C2677094|OMIM:612255|DOID:0110897	mondo.json	inflammatory bowel disease type 15|inflammatory bowel disease 15|IBD15	http://purl.obolibrary.org/obo/MONDO_0012837	https://omim.org/entry/612255|UMLS:C2677094|http://identifiers.org/mesh/C567381|DOID:0110897	
MONDO:0012834	biolink:Disease	systemic lupus erythematosus, susceptibility to, 10	Any systemic lupus erythematosus in which the cause of the disease is a mutation in the IRF5 gene.	OMIM:612251	mondo.json	SLEB10|susceptibility to systemic lupus erythematosus 10|systemic lupus erythematosus, susceptibility to, 10|systemic lupus erythematosus (disease) caused by mutation in IRF5|IRF5 systemic lupus erythematosus (disease)|systemic lupus erythematosus, susceptibility to, type 10	http://purl.obolibrary.org/obo/MONDO_0012834	https://omim.org/entry/612251	predisposition
MONDO:0012835	biolink:Disease	systemic lupus erythematosus, susceptibility to, 11	Any systemic lupus erythematosus in which the cause of the disease is a mutation in the STAT4 gene.	OMIM:612253	mondo.json	systemic lupus erythematosus, susceptibility to, type 11|susceptibility to systemic lupus erythematosus 11|systemic lupus erythematosus, susceptibility to, 11|STAT4 systemic lupus erythematosus (disease)|SLEB11|systemic lupus erythematosus (disease) caused by mutation in STAT4	http://purl.obolibrary.org/obo/MONDO_0012835	https://omim.org/entry/612253	predisposition
MONDO:0012838	biolink:Disease	inflammatory bowel disease 16	An inflammatory bowel disease that has material basis in variation in the chromosome region 9q32.	MESH:C567380|OMIM:612259|UMLS:C2677093|DOID:0110896	mondo.json	inflammatory bowel disease type 16|IBD16|inflammatory bowel disease 16	http://purl.obolibrary.org/obo/MONDO_0012838	https://omim.org/entry/612259|UMLS:C2677093|http://identifiers.org/mesh/C567380|DOID:0110896	
MONDO:0012839	biolink:Disease	pyogenic bacterial infections due to MyD88 deficiency	Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.	OMIM:612260|GARD:0012638|UMLS:C2677092|MESH:C567379|Orphanet:183713	mondo.json	MyD88 deficiency|immunodeficiency 68|MYD88D|pyogenic bacterial infections, recurrent, due to MyD88 deficiency|recurrent pyogenic bacterial infections due to MyD88 deficiency	http://purl.obolibrary.org/obo/MONDO_0012839	https://omim.org/entry/612260|UMLS:C2677092|http://identifiers.org/mesh/C567379|Orphanet:183713	ordo_disease
MONDO:0012840	biolink:Disease	inflammatory bowel disease 17	Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL23R gene.	MESH:C567378|DOID:0110883|OMIM:612261|UMLS:C2677091	mondo.json	inflammatory bowel disease 17, protection against|inflammatory bowel disease caused by mutation in IL23R|inflammatory bowel disease type 17|inflammatory bowel disease 17|IBD17|IL23R inflammatory bowel disease	http://purl.obolibrary.org/obo/MONDO_0012840	DOID:0110883|https://omim.org/entry/612261|UMLS:C2677091|http://identifiers.org/mesh/C567378	
HGNC:4396	biolink:NamedThing	GNB1			mondo.json		http://identifiers.org/hgnc/4396		
UBERON:0006068	biolink:AnatomicalEntity	bone of tail			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006068		
UBERON:0006067	biolink:AnatomicalEntity	musculature of hindlimb zeugopod			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006067		
HGNC:4394	biolink:NamedThing	GNAT2			mondo.json		http://identifiers.org/hgnc/4394		
UBERON:0006065	biolink:AnatomicalEntity	hemal arch			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006065		
MONDO:0012843	biolink:Disease	epilepsy, childhood absence, susceptibility to, 5	Any childhood absence epilepsy in which the cause of the disease is a mutation in the GABRB3 gene.	OMIM:612269	mondo.json	ECA5|epilepsy, childhood absence, susceptibility to, 5|epilepsy, childhood absence, susceptibility to, type 5|susceptibility to childhood absence epilepsy 5|childhood absence epilepsy caused by mutation in GABRB3|GABRB3 childhood absence epilepsy	http://purl.obolibrary.org/obo/MONDO_0012843	https://omim.org/entry/612269	predisposition
HGNC:4393	biolink:NamedThing	GNAT1			mondo.json		http://identifiers.org/hgnc/4393		
MONDO:0012844	biolink:Disease	primary ciliary dyskinesia 8	A primary ciliary dyskinesia that has material basis in variation in the chromosome region 15q24-q25.	DOID:0110616|OMIM:612274|MESH:C567373|UMLS:C2677085	mondo.json	primary ciliary dyskinesia 8 with or without situs inversus|ciliary dyskinesia, primary, 8|CILD8|ciliary dyskinesia, primary, 8, with or without situs inversus|primary ciliary dyskinesia type 8	http://purl.obolibrary.org/obo/MONDO_0012844	http://identifiers.org/mesh/C567373|DOID:0110616|https://omim.org/entry/612274|UMLS:C2677085	
HGNC:4392	biolink:NamedThing	GNAS			mondo.json		http://identifiers.org/hgnc/4392		
MONDO:0012841	biolink:Disease	inflammatory bowel disease 18	An inflammatory bowel disease that has material basis in variation in the chromosome region 5p13.1.	UMLS:C2677090|DOID:0110888|MESH:C567377|OMIM:612262	mondo.json	IBD18|inflammatory bowel disease type 18|inflammatory bowel disease 18	http://purl.obolibrary.org/obo/MONDO_0012841	http://identifiers.org/mesh/C567377|DOID:0110888|https://omim.org/entry/612262|UMLS:C2677090	
UBERON:0006063	biolink:AnatomicalEntity	cartilaginous neural arch			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006063		
MONDO:0012842	biolink:Disease	melanoma, cutaneous malignant, susceptibility to, 7		OMIM:612263	mondo.json	melanoma, cutaneous malignant, susceptibility to, 7|melanoma, cutaneous malignant, 7|CMM7	http://purl.obolibrary.org/obo/MONDO_0012842	https://omim.org/entry/612263	predisposition
HGNC:4390	biolink:NamedThing	GNAQ			mondo.json		http://identifiers.org/hgnc/4390		
GO:0051052	biolink:NamedThing	regulation of DNA metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving DNA.		mondo.json	regulation of DNA metabolism	http://purl.obolibrary.org/obo/GO_0051052		
MONDO:0000847	biolink:Disease	obsolete pycnodysostosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000847		
MONDO:0000846	biolink:Disease	obsolete craniodiaphyseal dysplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000846		
GO:0051053	biolink:NamedThing	negative regulation of DNA metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving DNA.		mondo.json	down regulation of DNA metabolic process|inhibition of DNA metabolic process|downregulation of DNA metabolic process|negative regulation of DNA metabolism|down-regulation of DNA metabolic process	http://purl.obolibrary.org/obo/GO_0051053		
MONDO:0024813	biolink:Disease	pulmonary sulcus neoplasm	A neoplasm originating from the apical lung. Most superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor.	NCIT:C27710	mondo.json	pulmonary sulcus tumor|pulmonary sulcus neoplasm	http://purl.obolibrary.org/obo/MONDO_0024813	NCIT:C27710	
MONDO:0000845	biolink:Disease	fibrous dysplasia	A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures.	SCTID:10623005|MESH:D005357|SCTID:254145001|NCIT:C34609|ICD9:733.29|Orphanet:249|MedDRA:10016664|DOID:0080031|GARD:0006444	mondo.json	fibrous dysplasia of bone	http://purl.obolibrary.org/obo/MONDO_0000845	DOID:0080031|http://identifiers.org/snomedct/10623005|Orphanet:249|NCIT:C34609|http://identifiers.org/snomedct/254145001|http://identifiers.org/mesh/D005357	ordo_malformation_syndrome
GO:0051050	biolink:NamedThing	positive regulation of transport	Any process that activates or increases the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	up-regulation of transport|up regulation of transport|activation of transport|stimulation of transport|upregulation of transport	http://purl.obolibrary.org/obo/GO_0051050		
GO:0051051	biolink:NamedThing	negative regulation of transport	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	down regulation of transport|inhibition of transport|downregulation of transport|down-regulation of transport	http://purl.obolibrary.org/obo/GO_0051051		
MONDO:0000844	biolink:Disease	obsolete spondyloepimetaphyseal dysplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000844		
GO:0051056	biolink:NamedThing	regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.		mondo.json	regulation of small GTPase-mediated signal transduction	http://purl.obolibrary.org/obo/GO_0051056		
GO:0051057	biolink:NamedThing	positive regulation of small GTPase mediated signal transduction	Any process that activates or increases the frequency, rate or extent of small GTPase mediated signal transduction.		mondo.json	up-regulation of small GTPase mediated signal transduction|up regulation of small GTPase mediated signal transduction|activation of small GTPase mediated signal transduction|stimulation of small GTPase mediated signal transduction|positive regulation of small GTPase-mediated signal transduction|upregulation of small GTPase mediated signal transduction	http://purl.obolibrary.org/obo/GO_0051057		
MONDO:0000849	biolink:Disease	fibrogenesis imperfecta ossium	A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures.	DOID:0080040	mondo.json	baker's disease	http://purl.obolibrary.org/obo/MONDO_0000849	DOID:0080040	
GO:0051054	biolink:NamedThing	positive regulation of DNA metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving DNA.		mondo.json	up-regulation of DNA metabolic process|up regulation of DNA metabolic process|activation of DNA metabolic process|stimulation of DNA metabolic process|upregulation of DNA metabolic process|positive regulation of DNA metabolism	http://purl.obolibrary.org/obo/GO_0051054		
GO:0051055	biolink:NamedThing	negative regulation of lipid biosynthetic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids.		mondo.json	negative regulation of lipid anabolism|negative regulation of lipid synthesis|downregulation of lipid biosynthetic process|negative regulation of lipid formation|down regulation of lipid biosynthetic process|inhibition of lipid biosynthetic process|negative regulation of lipogenesis|down-regulation of lipid biosynthetic process|negative regulation of lipid biosynthesis	http://purl.obolibrary.org/obo/GO_0051055		
MONDO:0000848	biolink:Disease	obsolete axial osteomalacia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000848		
MONDO:0000861	biolink:Disease	obsolete tubular aggregate myopathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000861		
MONDO:0000860	biolink:Disease	obsolete neural tube defect			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000860		
MONDO:0000865	biolink:Disease	obsolete congenital fiber-type disproportion			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000865		
MONDO:0000864	biolink:Disease	obsolete congenital myopathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000864		
MONDO:0000863	biolink:Disease	myopathy, lactic acidosis, and sideroblastic anemia	Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.	UMLS:CN220387|GARD:0003885|DOID:0080099|Orphanet:2598|MESH:C536101|OMIMPS:600462|SCTID:724138007	mondo.json	myopathy with lactic acidosis and sideroblastic anemia|myopathy, lactic acidosis and sideroblastic anemia|MLASA|MSA|sideroblastic anemia and mitochondrial myopathy|myopathy, lactic acidosis, and siderblastic anemia|mitochondrial myopathy and sideroblastic anemia	http://purl.obolibrary.org/obo/MONDO_0000863	http://identifiers.org/snomedct/724138007|Orphanet:2598|http://identifiers.org/mesh/C536101|https://omim.org/phenotypicSeries/PS600462|UMLS:CN220387|DOID:0080099	ordo_disease
MONDO:0024812	biolink:Disease	obsolete MONDO:0024812			mondo.json		http://purl.obolibrary.org/obo/MONDO_0024812		
MONDO:0000862	biolink:Disease	obsolete reducing body myopathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000862		
MONDO:0012825	biolink:Disease	extraskeletal myxoid chondrosarcoma	A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs.	Orphanet:209916|DOID:6496|NCIT:C27502|ICD9:171.9|UMLS:C1275278|ONCOTREE:EMCHS|OMIM:612237|SCTID:404079008|MESH:C563195	mondo.json	extraosseous chondrosarcoma|myxoid extraskeletal chondrosarcoma|EMC|chondrosarcoma, extraskeletal myxoid|extraskeletal chondrosarcoma|myxoid extraosseous chondrosarcoma	http://purl.obolibrary.org/obo/MONDO_0012825	https://omim.org/entry/612237|DOID:6496|Orphanet:209916|http://identifiers.org/snomedct/404079008|http://identifiers.org/mesh/C563195|UMLS:C1275278|NCIT:C27502	ordo_disease
MONDO:0012826	biolink:Disease	scoliosis, isolated, susceptibility to, 4		OMIM:612238	mondo.json	IS4|scoliosis, idiopathic, susceptibility to, 4|scoliosis, isolated, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0012826	https://omim.org/entry/612238	predisposition
MONDO:0012823	biolink:Disease	colorectal cancer, susceptibility to, 7		OMIM:612232	mondo.json	colorectal cancer, susceptibility to, 7|CRCS7|colorectal cancer, susceptibility to, on chromosome 11	http://purl.obolibrary.org/obo/MONDO_0012823	https://omim.org/entry/612232	predisposition
MONDO:0012824	biolink:Disease	hypomyelinating leukodystrophy 4	Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene.	DOID:0060789|OMIM:612233|MESH:C567390|UMLS:C2677109|Orphanet:280288	mondo.json	leukodystrophy caused by mutation in HSPD1|HSPD1 leukodystrophy|mitochondrial HSP60 chaperonopathy|mitochondrial Hsp60 chaperonopathy|Pelizaeus-Merzbacher-like disease due to HSPD1 mutation|hypomyelinating leukodystrophy type 4|leukodystrophy, hypomyelinating, 4|HLD4|Mitchap60 disease|MitCHAP60 disease|leukodystrophy, hypomyelinating, type 4	http://purl.obolibrary.org/obo/MONDO_0012824	https://omim.org/entry/612233|UMLS:C2677109|http://identifiers.org/mesh/C567390|Orphanet:280288|DOID:0060789	ordo_clinical_subtype
NCBITaxon:41687	biolink:OrganismalEntity	Scedosporium		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_41687		
MONDO:0012829	biolink:Disease	inflammatory bowel disease 12	An inflammatory bowel disease that has material basis in variation in the chromosome region 3p21.3	UMLS:C2677105|MESH:C567388|DOID:0110887|OMIM:612241	mondo.json	inflammatory bowel disease type 12|inflammatory bowel disease 12|IBD12	http://purl.obolibrary.org/obo/MONDO_0012829	https://omim.org/entry/612241|UMLS:C2677105|http://identifiers.org/mesh/C567388|DOID:0110887	
MONDO:0012827	biolink:Disease	scoliosis, isolated, susceptibility to, 5		OMIM:612239	mondo.json	scoliosis, idiopathic, susceptibility to, 5|scoliosis, isolated, susceptibility to, 5|IS5	http://purl.obolibrary.org/obo/MONDO_0012827	https://omim.org/entry/612239	predisposition
MONDO:0012828	biolink:Disease	atrial fibrillation, familial, 7	Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene.	OMIM:612240|UMLS:C2677106|MESH:C567389	mondo.json	ATFB7|atrial fibrillation, familial, type 7|atrial fibrillation, familial, 7|familial atrial fibrillation caused by mutation in KCNA5|KCNA5 familial atrial fibrillation	http://purl.obolibrary.org/obo/MONDO_0012828	https://omim.org/entry/612240|UMLS:C2677106|http://identifiers.org/mesh/C567389	
UBERON:0006058	biolink:AnatomicalEntity	multi-limb segment region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006058		
UBERON:0006056	biolink:AnatomicalEntity	posterior surface of head			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006056		
MONDO:0012832	biolink:Disease	inflammatory bowel disease 14	Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRF5 gene.	OMIM:612245|DOID:0110895|MESH:C567383|UMLS:C2677100	mondo.json	inflammatory bowel disease type 14|inflammatory bowel disease 14|IBD14|IRF5 inflammatory bowel disease|inflammatory bowel disease caused by mutation in IRF5	http://purl.obolibrary.org/obo/MONDO_0012832	UMLS:C2677100|http://identifiers.org/mesh/C567383|DOID:0110895|https://omim.org/entry/612245	
MONDO:0012833	biolink:Disease	Crouzon syndrome-acanthosis nigricans syndrome	Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN).	Orphanet:93262|OMIM:612247|DOID:0111161|SCTID:702361006|NCIT:C38145|MESH:C567382	mondo.json	Chronic kidney allograft nephropathy|chronic allograft nephropathy|Crouzon syndrome with acanthosis nigricans|Crouzon-dermoskeletal syndrome|Crouzonodermoskeletal syndrome|CAN|can	http://purl.obolibrary.org/obo/MONDO_0012833	http://identifiers.org/snomedct/702361006|http://identifiers.org/mesh/C567382|DOID:0111161|NCIT:C38145|Orphanet:93262|https://omim.org/entry/612247	ordo_malformation_syndrome
MONDO:0012830	biolink:Disease	chromosome 10q23 deletion syndrome	10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.	Orphanet:2929|Orphanet:276413|GARD:0013018|DOID:0060389|MESH:C567385|OMIM:612242|UMLS:C2677102|Orphanet:79076|UMLS:CN202618	mondo.json	10q22.3q23.3 microdeletion syndrome|juvenile polyposis, infantile|chromosome 10q23 deletion syndrome|monosomy 10q22.3q23.3|deletion 10q22.3q23.3|10q22.3q23 microdeletion syndrome|chromosome 10q22.3-q23.2 deletion syndrome|Del(10)(q22.3q23.3)|juvenile polyposis of infancy|chromosome 10Q22.3-q23.2 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0012830	UMLS:CN202618|http://identifiers.org/mesh/C567385|DOID:0060389|Orphanet:276413|https://omim.org/entry/612242|UMLS:C2677102	gard_rare|ordo_malformation_syndrome
UBERON:0006052	biolink:AnatomicalEntity	digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006052		
MONDO:0012831	biolink:Disease	inflammatory bowel disease 13	Any inflammatory bowel disease in which the cause of the disease is a mutation in the ABCB1 gene.	UMLS:C2677101|OMIM:612244|MESH:C567384|DOID:0110893	mondo.json	inflammatory bowel disease type 13|ABCB1 inflammatory bowel disease|inflammatory bowel disease caused by mutation in ABCB1|inflammatory bowel disease 13|IBD13	http://purl.obolibrary.org/obo/MONDO_0012831	http://identifiers.org/mesh/C567384|DOID:0110893|https://omim.org/entry/612244|UMLS:C2677101	
MONDO:0000858	biolink:Disease	neuronal intestinal dysplasia		ICD9:751.5|UMLS:C0345244|SCTID:253783001|DOID:0080072	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000858	UMLS:C0345244|DOID:0080072|http://identifiers.org/snomedct/253783001	
NCBITaxon:6752	biolink:OrganismalEntity	Brachyura		GC_ID:1	mondo.json	short-tailed crabs|true crabs	http://purl.obolibrary.org/obo/NCBITaxon_6752		
MONDO:0000857	biolink:Disease	obsolete Charcot-Marie-Tooth disease type 7	OBSOLETE. A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa.	DOID:0080069	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000857	DOID:0080069	
MONDO:0000856	biolink:Disease	obsolete Charcot-Marie-Tooth disease type 6			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000856		
MONDO:0000855	biolink:Disease	obsolete acromesomelic dysplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000855		
MONDO:0000859	biolink:Disease	spina bifida occulta	The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an x-ray is performed. Treatment is symptomatic.	SCTID:76916001|HP:0003298|NCIT:C101044|MESH:D016136|DOID:0080073|ICD9:756.17	mondo.json	spina bifida occulta|spina bifida occulta (disease)	http://purl.obolibrary.org/obo/MONDO_0000859	DOID:0080073|NCIT:C101044|http://identifiers.org/snomedct/76916001|http://identifiers.org/mesh/D016136	
UBERON:0006059	biolink:AnatomicalEntity	falx cerebri			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006059		
GO:2000225	biolink:NamedThing	negative regulation of testosterone biosynthetic process	Any process that stops, prevents, or reduces the frequency, rate or extent of testosterone biosynthetic process.		mondo.json		http://purl.obolibrary.org/obo/GO_2000225		
HGNC:6903	biolink:NamedThing	MAT1A			mondo.json		http://identifiers.org/hgnc/6903		
GO:0016628	biolink:NamedThing	oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces NAD or NADP.		mondo.json		http://purl.obolibrary.org/obo/GO_0016628		
HGNC:6909	biolink:NamedThing	MATN3			mondo.json		http://identifiers.org/hgnc/6909		
GO:0016627	biolink:NamedThing	oxidoreductase activity, acting on the CH-CH group of donors	Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor.		mondo.json	oxidoreductase activity, acting on the CH-CH group of donors, other acceptors	http://purl.obolibrary.org/obo/GO_0016627		
GO:0016620	biolink:NamedThing	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces NAD or NADP.		mondo.json		http://purl.obolibrary.org/obo/GO_0016620		
HGNC:6912	biolink:NamedThing	MATR3			mondo.json		http://identifiers.org/hgnc/6912		
HGNC:6913	biolink:NamedThing	MAX			mondo.json		http://identifiers.org/hgnc/6913		
GO:2000224	biolink:NamedThing	regulation of testosterone biosynthetic process	Any process that modulates the frequency, rate or extent of testosterone biosynthetic process.		mondo.json		http://purl.obolibrary.org/obo/GO_2000224		
CHR:9606-chr19p13.3	biolink:NamedThing	19p13.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr19p13.3		
CHR:9606-chr19p13.1	biolink:NamedThing	19p13.1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr19p13.1		
PO:0025131	biolink:NamedThing	plant anatomical entity	An anatomical entity that is or was part of a plant.	PO_GIT:224	mondo.json	entidad anat&#243mica vegetal (Spanish, exact)|植物 解剖学（形態）的実体 (Japanese, exact)	http://purl.obolibrary.org/obo/PO_0025131		
HGNC:6922	biolink:NamedThing	MBL2			mondo.json		http://identifiers.org/hgnc/6922		
PO:0025127	biolink:NamedThing	primordium	A portion of meristem tissue (PO:0009013) that has as parts protoderm (PO:0006210) and sub-epidermal meristematic tissue and is committed to the development of a particular plant structure (PO:0009011).	PO_GIT:186	mondo.json	portion of primordium tissue (exact)|portion of primordial tissue (exact)|原基（可視的）  (Japanese, exact)|primordia (exact, plural)|primordio (Spanish, exact)	http://purl.obolibrary.org/obo/PO_0025127		
HGNC:6929	biolink:NamedThing	MC1R			mondo.json		http://identifiers.org/hgnc/6929		
HP:0001387	biolink:PhenotypicFeature	Joint stiffness	Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.	SNOMEDCT_US:84445001|UMLS:C0162298	mondo.json	Joint stiffness|Stiff joint|Stiff joints	http://purl.obolibrary.org/obo/HP_0001387		
HP:0025354	biolink:PhenotypicFeature	Abnormal cellular phenotype	An anomaly of cellular morphology or physiology.		mondo.json		http://purl.obolibrary.org/obo/HP_0025354		
GO:2000241	biolink:NamedThing	regulation of reproductive process	Any process that modulates the frequency, rate or extent of reproductive process.		mondo.json		http://purl.obolibrary.org/obo/GO_2000241		
HGNC:6930	biolink:NamedThing	MC2R			mondo.json		http://identifiers.org/hgnc/6930		
GO:2000242	biolink:NamedThing	negative regulation of reproductive process	Any process that stops, prevents, or reduces the frequency, rate or extent of reproductive process.		mondo.json		http://purl.obolibrary.org/obo/GO_2000242		
HGNC:6931	biolink:NamedThing	MC3R			mondo.json		http://identifiers.org/hgnc/6931		
GO:2000243	biolink:NamedThing	positive regulation of reproductive process	Any process that activates or increases the frequency, rate or extent of reproductive process.		mondo.json		http://purl.obolibrary.org/obo/GO_2000243		
HGNC:6932	biolink:NamedThing	MC4R			mondo.json		http://identifiers.org/hgnc/6932		
HP:0001384	biolink:PhenotypicFeature	Abnormal hip joint morphology	An abnormality of the hip joint.	UMLS:C4020870	mondo.json	Abnormality of the hip joints|Abnormality of the hip joint	http://purl.obolibrary.org/obo/HP_0001384		
GO:0004634	biolink:NamedThing	phosphopyruvate hydratase activity	Catalysis of the reaction: 2-phospho-D-glycerate = phosphoenolpyruvate + H2O.		mondo.json	2-phosphoglycerate enolase activity|2-phospho-D-glycerate-hydrolase activity|2-phosphoglycerate dehydratase activity|2-phosphoglyceric dehydratase activity|gamma-enolase activity|2-phospho-D-glycerate hydro-lyase activity|phosphoenolpyruvate hydratase activity|14-3-2-protein|enolase activity|nervous-system specific enolase|2-phospho-D-glycerate hydro-lyase (phosphoenolpyruvate-forming)	http://purl.obolibrary.org/obo/GO_0004634		
GO:2000258	biolink:NamedThing	negative regulation of protein activation cascade	Any process that stops, prevents or reduces the frequency, rate or extent of protein activation cascade.		mondo.json	negative regulation of protein activation pathway|negative regulation of protein activitory cascade	http://purl.obolibrary.org/obo/GO_2000258		
HGNC:6936	biolink:NamedThing	MCCC1			mondo.json		http://identifiers.org/hgnc/6936		
GO:2000259	biolink:NamedThing	positive regulation of protein activation cascade	Any process that activates or increases the frequency, rate or extent of protein activation cascade.		mondo.json	positive regulation of protein activitory cascade|positive regulation of protein activation pathway	http://purl.obolibrary.org/obo/GO_2000259		
HGNC:6937	biolink:NamedThing	MCCC2			mondo.json		http://identifiers.org/hgnc/6937		
HGNC:6938	biolink:NamedThing	CHST6			mondo.json		http://identifiers.org/hgnc/6938		
GO:0016614	biolink:NamedThing	oxidoreductase activity, acting on CH-OH group of donors	Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group act as a hydrogen or electron donor and reduces a hydrogen or electron acceptor.		mondo.json	oxidoreductase activity, acting on the CH-OH group of donors, other acceptors	http://purl.obolibrary.org/obo/GO_0016614		
GO:2000252	biolink:NamedThing	negative regulation of feeding behavior	Any process that stops, prevents or reduces the frequency, rate or extent of feeding behavior.		mondo.json	negative regulation of behavioural response to food|negative regulation of behavioral response to food|negative regulation of drinking|negative regulation of eating|negative regulation of feeding behaviour	http://purl.obolibrary.org/obo/GO_2000252		
HP:0001396	biolink:PhenotypicFeature	Cholestasis	Impairment of bile flow due to obstruction in bile ducts.	UMLS:C0008370|SNOMEDCT_US:197446008|SNOMEDCT_US:33688009|MSH:D002779|SNOMEDCT_US:30144000	mondo.json	Slowed or blocked flow of bile from liver	http://purl.obolibrary.org/obo/HP_0001396		
HP:0001397	biolink:PhenotypicFeature	Hepatic steatosis	Steatosis is a term used to denote lipid accumulation within hepatocytes.	SNOMEDCT_US:197321007|MSH:D005234|UMLS:C2711227|SNOMEDCT_US:442191002	mondo.json	Fatty infiltration of liver|Liver steatosis|Fatty liver|Steatosis	http://purl.obolibrary.org/obo/HP_0001397		
GO:0016616	biolink:NamedThing	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group acts as a hydrogen or electron donor and reduces NAD+ or NADP.		mondo.json	NADH-dependent glyoxylate reductase|glycolate reductase|glyoxylic acid reductase	http://purl.obolibrary.org/obo/GO_0016616		
GO:2000253	biolink:NamedThing	positive regulation of feeding behavior	Any process that activates or increases the frequency, rate or extent of feeding behavior.		mondo.json	positive regulation of feeding behaviour|positive regulation of behavioural response to food|positive regulation of eating|positive regulation of drinking|positive regulation of behavioral response to food	http://purl.obolibrary.org/obo/GO_2000253		
UBERON:0008713	biolink:AnatomicalEntity	pectoral girdle and thoracic body wall skeletal muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008713		
UBERON:0008715	biolink:AnatomicalEntity	muscle tissue of prostate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008715		
HGNC:6944	biolink:NamedThing	MCM2			mondo.json		http://identifiers.org/hgnc/6944		
UBERON:0008716	biolink:AnatomicalEntity	hilum of kidney			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008716		
GO:2000257	biolink:NamedThing	regulation of protein activation cascade	Any process that modulates the frequency, rate or extent of protein activation cascade.		mondo.json	regulation of protein activitory cascade|regulation of protein activation pathway	http://purl.obolibrary.org/obo/GO_2000257		
HP:0001394	biolink:PhenotypicFeature	Cirrhosis	A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.	SNOMEDCT_US:19943007|MSH:D008103|UMLS:C0023890	mondo.json	Hepatic cirrhosis|Scar tissue replaces healthy tissue in the liver|Liver cirrhosis	http://purl.obolibrary.org/obo/HP_0001394		
HP:0001392	biolink:PhenotypicFeature	Abnormality of the liver	An abnormality of the liver.	UMLS:C4021780|MSH:D008107|UMLS:C0023895|SNOMEDCT_US:235856003	mondo.json	Abnormality of the liver|Abnormal liver|Liver disease|Liver abnormality	http://purl.obolibrary.org/obo/HP_0001392		
GO:0004602	biolink:NamedThing	glutathione peroxidase activity	Catalysis of the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O.		mondo.json	glutathione:hydrogen-peroxide oxidoreductase activity|selenium-glutathione peroxidase activity|GSH peroxidase activity|reduced glutathione peroxidase activity|non-selenium glutathione peroxidase activity	http://purl.obolibrary.org/obo/GO_0004602		
GO:0004601	biolink:NamedThing	peroxidase activity	Catalysis of the reaction: a donor + a peroxide = an oxidized donor + 2 H2O.		mondo.json	horseradish peroxidase (HRP)|protoheme peroxidase|lactoperoxidase activity|extensin peroxidase|oxyperoxidase activity|MPO|peroxidase reaction|myeloperoxidase activity|scopoletin peroxidase|verdoperoxidase|donor:hydrogen-peroxide oxidoreductase activity|secretory plant peroxidase activity|heme peroxidase|thiocyanate peroxidase|guaiacol peroxidase|bacterial catalase-peroxidase activity|pyrocatechol peroxidase|japanese radish peroxidase|eosinophil peroxidase activity	http://purl.obolibrary.org/obo/GO_0004601		
RO:0011002	biolink:NamedThing	regulates activity of	The entity A has an activity that regulates an activity of the entity B. For example, A and B are gene products where the catalytic activity of A regulates the kinase activity of B.		mondo.json		http://purl.obolibrary.org/obo/RO_0011002		
HGNC:6947	biolink:NamedThing	MCM4			mondo.json		http://identifiers.org/hgnc/6947		
HGNC:6949	biolink:NamedThing	MCM6			mondo.json		http://identifiers.org/hgnc/6949		
MONDO:0000909	biolink:Disease	Bartter disease type 4B	A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes.	OMIM:613090|UMLS:C2751312|DOID:0110146	mondo.json	Bartter syndrome, type 4b, digenic|Bartter syndrome, type 4B, neonatal, with sensorineural deafness|Bartter syndrome, infantile, with sensorineural deafness|Bartter syndrome, type 4B|Bartter disease type 4B|neonatal Bartter syndrome type 4B with sensorineural deafness|BARTS4B	http://purl.obolibrary.org/obo/MONDO_0000909	DOID:0110146|UMLS:C2751312|https://omim.org/entry/613090	
UBERON:0008788	biolink:AnatomicalEntity	posterior cranial fossa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008788		
MONDO:0000908	biolink:Disease	arrhythmogenic right ventricular dysplasia 13	Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the CTNNA3 gene.	OMIM:615616|DOID:0110084|UMLS:C3810138	mondo.json	arrhythmogenic right ventricular cardiomyopathy 13|ARVC13|arrhythmogenic right ventricular cardiomyopathy caused by mutation in CTNNA3|arrhythmogenic right ventricular dysplasia type 13|ARVD13|arrhythmogenic right ventricular dysplasia, familial, 13|arrhythmogenic right ventricular dysplasia, familial, type 13|familial arrhythmogenic right ventricular dysplasia 13|CTNNA3 arrhythmogenic right ventricular cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0000908	DOID:0110084|https://omim.org/entry/615616|UMLS:C3810138	
UBERON:0008789	biolink:AnatomicalEntity	cranial fossa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008789		
MONDO:0000907	biolink:Disease	obsolete amelogenesis imperfecta type 1C			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000907		
HGNC:6953	biolink:NamedThing	CD46			mondo.json		http://identifiers.org/hgnc/6953		
HGNC:6954	biolink:NamedThing	MCPH1			mondo.json		http://identifiers.org/hgnc/6954		
MONDO:0000902	biolink:Disease	agenesis of the corpus callosum with peripheral neuropathy	Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.	DOID:0090003|Orphanet:1496|SCTID:702439002|OMIM:218000|UMLS:C0795950|GARD:0001537|DOID:0060600|MESH:C536446	mondo.json	corpus callosum, agenesis of, with neuronopathy|hereditary motor and sensory neuropathy with agenesis of the corpus callosum|ACCPN|Charlevoix disease|corpus callosum agenesis-neuronopathy syndrome|peripheral neuropathy associated with agenesis of the corpus callosum|agenesis of corpus callosum with neuronopathy|corpus callosum agenesis neuronopathy|HMSN/ACC|agenesis of corpus callosum with polyneuropathy|Andermann syndrome|agenesis of corpus callosum with peripheral neuropathy|agenesis of the corpus callosum with peripheral neuropathy|polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum	http://purl.obolibrary.org/obo/MONDO_0000902	Orphanet:1496|UMLS:C0795950|http://identifiers.org/mesh/C536446|DOID:0090003|https://omim.org/entry/218000|http://identifiers.org/snomedct/702439002	ordo_disease
MONDO:0000901	biolink:Disease	relapsed/refractory diffuse large B-cell lymphoma	A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission.	DOID:0080192	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000901	DOID:0080192	
UBERON:0008780	biolink:AnatomicalEntity	inner cell mass derived epiblast			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008780		
MONDO:0000900	biolink:Disease	obsolete PTEN hamartoma tumor syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000900		
MONDO:0000906	biolink:Disease	obsolete Alzheimer disease 5			mondo.json	obsolete Alzheimer's disease 5	http://purl.obolibrary.org/obo/MONDO_0000906		
UBERON:0008783	biolink:AnatomicalEntity	dorsal venous arch			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008783		
UBERON:0008784	biolink:AnatomicalEntity	lower limb segment			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008784		
MONDO:0000905	biolink:Disease	obsolete cortisone reductase deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000905		
UBERON:0006127	biolink:AnatomicalEntity	funiculus of spinal cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006127		
UBERON:0008785	biolink:AnatomicalEntity	upper limb segment			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008785		
MONDO:0000904	biolink:Disease	complex cortical dysplasia with other brain malformations		OMIMPS:614039|DOID:0090131|UMLS:CN228165	mondo.json	complex cortical dysplasia with other brain malformations|cortical dysplasia, complex, with other brain malformations|CDCBM	http://purl.obolibrary.org/obo/MONDO_0000904	DOID:0090131|https://omim.org/phenotypicSeries/PS614039|UMLS:CN228165	
MONDO:0000903	biolink:Disease	myoclonus-dystonia syndrome	Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.	Orphanet:36899|UMLS:C1834570|DOID:0090033|MESH:C536096|GARD:0007139|ICD9:333.99|SCTID:439732004	mondo.json	myoclonus-Dystonia|Hereditary essential myoclonus|dystonia, alcohol responsive|dystonia 11|dystonia 11, myoclonic|hereditary essential myoclonus|DYT11|myoclonic dystonia|myoclonus-dystonia|dystonia-11, myoclonic|alcohol-responsive dystonia|DYT-SGCE|dystonia with myoclonus|myoclonus-dystonia syndrome|myoclonus, hereditary essential|dystonia, alcohol-responsive	http://purl.obolibrary.org/obo/MONDO_0000903	http://identifiers.org/mesh/C536096|DOID:0090033|Orphanet:36899|UMLS:C1834570|http://identifiers.org/snomedct/439732004	
GO:0004614	biolink:NamedThing	phosphoglucomutase activity	Catalysis of the reaction: alpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate.		mondo.json	glucose phosphomutase activity|phosphoglucose mutase activity|alpha-D-glucose 1,6-phosphomutase activity	http://purl.obolibrary.org/obo/GO_0004614		
MONDO:0000920	biolink:Disease	duodenum cancer	A primary or metastatic malignant neoplasm that affects the duodenum. Representative examples include carcinoma, lymphoma, and sarcoma.	MESH:D004379|DOID:10021|SCTID:363403002|ICD9:152.0|NCIT:C9328	mondo.json	duodenum cancer|duodenal cancer|malignant duodenum neoplasm|malignant tumor of duodenum|malignant tumor of the duodenum|cancer of duodenum|malignant duodenal neoplasm|malignant neoplasm of duodenum|malignant duodenal tumor|malignant neoplasm of the duodenum	http://purl.obolibrary.org/obo/MONDO_0000920	http://identifiers.org/snomedct/363403002|DOID:10021|http://identifiers.org/mesh/D004379|NCIT:C9328	
MONDO:0000919	biolink:Disease	ampulla of vater cancer	A primary or metastatic malignant neoplasm involving the ampulla of Vater.	UMLS:C0153454|ICD9:156.2|NCIT:C3536|DOID:10020|SCTID:363417006	mondo.json	malignant neoplasm of ampulla of Vater|cancer of hepatopancreatic ampulla|malignant ampulla of Vater tumor|malignant neoplasm of the ampulla of Vater|malignant hepatopancreatic ampulla neoplasm|malignant tumour of ampulla of vater|malignant ampulla of Vater neoplasm|malignant neoplasm of hepatopancreatic ampulla|malignant tumor of ampulla of Vater|malignant tumor of the ampulla of Vater|hepatopancreatic ampulla cancer	http://purl.obolibrary.org/obo/MONDO_0000919	http://identifiers.org/snomedct/363417006|DOID:10020|UMLS:C0153454|NCIT:C3536	
MONDO:0000918	biolink:Disease	endometritis	An acute or chronic, usually bacterial infectious process affecting the endometrium. It may extend to the myometrium and parametrial tissues. Symptoms include lower abdominal pain, vaginal discharge, and vaginal bleeding.	EFO:1001312|DOID:1002|MESH:D004716|SCTID:78623009|UMLS:C0014179|NCIT:C26764	mondo.json	uterine infection|inflammation of endometrium|endometrium inflammation	http://purl.obolibrary.org/obo/MONDO_0000918	http://identifiers.org/snomedct/78623009|DOID:1002|NCIT:C26764|http://identifiers.org/mesh/D004716|UMLS:C0014179	
MONDO:0000913	biolink:Disease	hereditary spherocytosis type 2	Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene.	DOID:0110917|UMLS:C2674219|OMIM:616649	mondo.json	spherocytosis, hereditary, 2|hereditary spherocytosis type 2|spherocytosis, type 2|SPTB hereditary spherocytosis|HS2|SPH2|hereditary spherocytosis 2|hereditary spherocytosis caused by mutation in SPTB	http://purl.obolibrary.org/obo/MONDO_0000913	UMLS:C2674219|https://omim.org/entry/616649|DOID:0110917	
MONDO:0000912	biolink:Disease	autosomal recessive nonsyndromic hearing loss 5	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12.	OMIM:600792|DOID:0110507|MESH:C563444|UMLS:C1833319	mondo.json	deafness, autosomal recessive 5|neurosensory nonsyndromic recessive deafness 5|autosomal recessive nonsyndromic deafness 5|DFNB5|autosomal recessive nonsyndromic deafness type 5|autosomal recessive deafness 5	http://purl.obolibrary.org/obo/MONDO_0000912	DOID:0110507|http://identifiers.org/mesh/C563444|https://omim.org/entry/600792|UMLS:C1833319	
MONDO:0000911	biolink:Disease	obsolete dilated cardiomyopathy 1T	OBSOLETE. Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TMPO gene.	OMIM:613740|MESH:C566052|DOID:0110452|UMLS:C3151039	mondo.json	moved to 115200|cardiomyopathy, dilated, 1T|familial isolated dilated cardiomyopathy caused by mutation in TMPO|cardiomyopathy, dilated, type 1T|CMD1T|TMPO familial isolated dilated cardiomyopathy|dilated cardiomyopathy type 1T	http://purl.obolibrary.org/obo/MONDO_0000911	DOID:0110452|https://omim.org/entry/613740|http://identifiers.org/mesh/C566052|UMLS:C3151039	
MONDO:0000910	biolink:Disease	retinitis pigmentosa 6	A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2.	MESH:C564065|DOID:0110413|UMLS:C1839368|ICD10CM:H35.5|OMIM:312612|GARD:0010377	mondo.json	retinitis pigmentosa type 6|retinitis pigmentosa 6|RP 6|retinitis pigmentosa, X-linked recessive, 6|RP6	http://purl.obolibrary.org/obo/MONDO_0000910	http://identifiers.org/mesh/C564065|DOID:0110413|https://omim.org/entry/312612|UMLS:C1839368	gard_rare
MONDO:0000917	biolink:Disease	obsolete thyroid lymphoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000917		
UBERON:0008772	biolink:AnatomicalEntity	proximal epiphysis of tibia			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008772		
MONDO:0000916	biolink:Disease	intestinal infectious disease	An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa.	ICD9:001-009.99|UMLS:C0152516|ICD9:008.8|DOID:100|ICD10CM:A00-A09|SCTID:266071000|UMLS:C0178238	mondo.json	bacterial enteritis	http://purl.obolibrary.org/obo/MONDO_0000916	DOID:100|UMLS:C0178238|http://purl.bioontology.org/ontology/ICD10CM/A00-A09|UMLS:C0152516|http://identifiers.org/snomedct/266071000	
MONDO:0000915	biolink:Disease	obsolete MONDO:0000915			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000915		
GO:0004619	biolink:NamedThing	phosphoglycerate mutase activity	Catalysis of the reaction: 2-phospho-D-glycerate = 3-phospho-D-glycerate.		mondo.json	phosphoglycerate phosphomutase activity|PGA mutase activity|diphosphoglycomutase|phosphoglyceromutase activity|GriP mutase|monophosphoglyceromutase activity|D-phosphoglycerate 2,3-phosphomutase activity|PGAM activity|bisphosphoglyceromutase|PGM|MPGM|monophosphoglycerate mutase activity	http://purl.obolibrary.org/obo/GO_0004619		
GO:0004618	biolink:NamedThing	phosphoglycerate kinase activity	Catalysis of the reaction: 3-phospho-D-glycerate + ATP = 3-phospho-D-glyceroyl phosphate + ADP + H(+).		mondo.json	3-phosphoglyceric acid kinase activity|ATP:D-3-phosphoglycerate 1-phosphotransferase activity|3-phosphoglycerate kinase activity|phosphoglyceric kinase activity|3-phosphoglycerate phosphokinase activity|3-phosphoglyceric acid phosphokinase activity|ATP:3-phospho-D-glycerate 1-phosphotransferase activity|3-PGK|ATP-3-phospho-D-glycerate-1-phosphotransferase activity|phosphoglyceric acid kinase activity|glycerophosphate kinase activity|glycerate 3-phosphate kinase activity|phosphoglycerokinase activity|PGK|3-phosphoglyceric kinase activity	http://purl.obolibrary.org/obo/GO_0004618		
MONDO:0000914	biolink:Disease	cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.	MedDRA:10065551|GARD:0001049|UMLS:C0751587|OMIM:125310|DOID:0111035|MESH:D046589|NCIT:C84606|Orphanet:136|SCTID:390936003	mondo.json	CADASIL syndrome|cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy|familial vascular leukoencephalopathy|autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1|CADASIL type 1|cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1|hereditary multi-infarct dementia|CADASIL|CADASIL 1|CADASIL1|cerebral arteriopathy with subcortical infarcts and leukoencephalopathy|CASIL|dementia, hereditary multi-infarct type|cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	http://purl.obolibrary.org/obo/MONDO_0000914	Orphanet:136|DOID:0111035|UMLS:C0751587|http://identifiers.org/mesh/D046589|http://identifiers.org/snomedct/390936003|NCIT:C84606|https://omim.org/entry/125310	
UBERON:0008775	biolink:AnatomicalEntity	proximal epiphysis of fibula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008775		
HGNC:6973	biolink:NamedThing	MDM2			mondo.json		http://identifiers.org/hgnc/6973		
HGNC:4315	biolink:NamedThing	GLE1			mondo.json		http://identifiers.org/hgnc/4315		
HGNC:4313	biolink:NamedThing	GLDC			mondo.json		http://identifiers.org/hgnc/4313		
HGNC:4312	biolink:NamedThing	GCLM			mondo.json		http://identifiers.org/hgnc/4312		
HGNC:4311	biolink:NamedThing	GCLC			mondo.json		http://identifiers.org/hgnc/4311		
HGNC:6971	biolink:NamedThing	MDH2			mondo.json		http://identifiers.org/hgnc/6971		
HGNC:4319	biolink:NamedThing	GLI3			mondo.json		http://identifiers.org/hgnc/4319		
HGNC:4318	biolink:NamedThing	GLI2			mondo.json		http://identifiers.org/hgnc/4318		
GO:2000214	biolink:NamedThing	regulation of proline metabolic process	Any process that modulates the frequency, rate or extent of proline metabolic process.		mondo.json	regulation of proline metabolism	http://purl.obolibrary.org/obo/GO_2000214		
GO:2000215	biolink:NamedThing	negative regulation of proline metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of proline metabolic process.		mondo.json	negative regulation of proline metabolism	http://purl.obolibrary.org/obo/GO_2000215		
GO:2000216	biolink:NamedThing	positive regulation of proline metabolic process	Any process that activates or increases the frequency, rate or extent of proline metabolic process.		mondo.json	positive regulation of proline metabolism	http://purl.obolibrary.org/obo/GO_2000216		
HGNC:4326	biolink:NamedThing	GLRA1			mondo.json		http://identifiers.org/hgnc/4326		
HGNC:21082	biolink:NamedThing	SEC63			mondo.json		http://identifiers.org/hgnc/21082		
HP:0001328	biolink:PhenotypicFeature	Specific learning disability	Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.	UMLS:C4025790	mondo.json		http://purl.obolibrary.org/obo/HP_0001328		
HGNC:21086	biolink:NamedThing	MIB1			mondo.json		http://identifiers.org/hgnc/21086		
GO:0014049	biolink:NamedThing	positive regulation of glutamate secretion	Any process that activates or increases the frequency, rate or extent of the controlled release of glutamate.		mondo.json	upregulation of glutamate secretion|up-regulation of glutamate secretion|up regulation of glutamate secretion|activation of glutamate secretion|stimulation of glutamate secretion	http://purl.obolibrary.org/obo/GO_0014049		
HP:0001321	biolink:PhenotypicFeature	Cerebellar hypoplasia	Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.	UMLS:C0266470|MSH:C562568|SNOMEDCT_US:16026008	mondo.json	Underdeveloped cerebellum|Small cerebellum|Congenital cerebellar hypoplasia|Hypoplastic cerebellum|Hypoplasia of cerebellum	http://purl.obolibrary.org/obo/HP_0001321		
HP:0001322	biolink:PhenotypicFeature	obsolete Brain very small			mondo.json		http://purl.obolibrary.org/obo/HP_0001322		
GO:0014048	biolink:NamedThing	regulation of glutamate secretion	Any process that modulates the frequency, rate or extent of the controlled release of glutamate.		mondo.json		http://purl.obolibrary.org/obo/GO_0014048		
GO:0014047	biolink:NamedThing	glutamate secretion	The controlled release of glutamate by a cell. The glutamate is the most abundant excitatory neurotransmitter in the nervous system.		mondo.json		http://purl.obolibrary.org/obo/GO_0014047		
HP:0001320	biolink:PhenotypicFeature	Cerebellar vermis hypoplasia	Underdevelopment of the vermis of cerebellum.	UMLS:C1840379	mondo.json	Hypoplastic cerebellar vermis|Cerebellar vermal hypoplasia|Hypoplasia of the cerebellar vermis	http://purl.obolibrary.org/obo/HP_0001320		
GO:0014046	biolink:NamedThing	dopamine secretion	The regulated release of dopamine by a cell. Dopamine is a catecholamine and a precursor of adrenaline and noradrenaline. It acts as a neurotransmitter in the central nervous system but it is also produced peripherally and acts as a hormone.		mondo.json		http://purl.obolibrary.org/obo/GO_0014046		
FOODON:03510019	biolink:NamedThing	cattle as consumer			mondo.json		http://purl.obolibrary.org/obo/FOODON_03510019		
HP:0001324	biolink:PhenotypicFeature	Muscle weakness	Reduced strength of muscles.	SNOMEDCT_US:26544005|MSH:D018908|UMLS:C0151786	mondo.json	Muscular weakness|Muscle weakness	http://purl.obolibrary.org/obo/HP_0001324		
HP:0001339	biolink:PhenotypicFeature	Lissencephaly	A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.	UMLS:C0266463|MSH:D054082|SNOMEDCT_US:204036008|UMLS:C1879312	mondo.json	Fewer or absent grooves in brain	http://purl.obolibrary.org/obo/HP_0001339		
MONDO:0022293	biolink:Disease	vascular disorder of penis	A non-neoplastic or neoplastic disorder that affects the blood vessels of the penis. Representative examples include atherosclerosis, venous leak, and hemangioma.	MEDGEN:102349|UMLS:C0156307|SCTID:198029003|ICD9:607.82|NCIT:C35218	mondo.json	Penis vascular disorder|Vascular disorder of penis|penile vascular disorder|Penile Vascular Disorder|Penile vascular disorder	http://purl.obolibrary.org/obo/MONDO_0022293	UMLS:C0156307|http://identifiers.org/snomedct/198029003|NCIT:C35218	
GO:0014059	biolink:NamedThing	regulation of dopamine secretion	Any process that modulates the frequency, rate or extent of the regulated release of dopamine.		mondo.json		http://purl.obolibrary.org/obo/GO_0014059		
GO:0014058	biolink:NamedThing	negative regulation of acetylcholine secretion, neurotransmission	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of acetylcholine.		mondo.json	down-regulation of acetylcholine secretion|down regulation of acetylcholine secretion|downregulation of acetylcholine secretion|inhibition of acetylcholine secretion	http://purl.obolibrary.org/obo/GO_0014058		
HP:0001331	biolink:PhenotypicFeature	Absent septum pellucidum	Absence of the septum pellucidum.	MSH:C535562|UMLS:C0431371|SNOMEDCT_US:253143001	mondo.json	Agenesis of the septum pellucidum|Missing septum pellucidum|Absence of the septum pellucidum|Absence of septum pellucidum	http://purl.obolibrary.org/obo/HP_0001331		
GO:0014057	biolink:NamedThing	positive regulation of acetylcholine secretion, neurotransmission	Any process that activates or increases the frequency, rate or extent of the regulated release of acetylcholine.		mondo.json	activation of acetylcholine secretion|stimulation of acetylcholine secretion|upregulation of acetylcholine secretion|up-regulation of acetylcholine secretion|up regulation of acetylcholine secretion	http://purl.obolibrary.org/obo/GO_0014057		
HP:0001336	biolink:PhenotypicFeature	Myoclonus	Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.	UMLS:C1854302|SNOMEDCT_US:127324008|UMLS:C0027066|SNOMEDCT_US:17450006|MSH:D009207	mondo.json	Jerking|Involuntary jerking movements|Myoclonic jerks	http://purl.obolibrary.org/obo/HP_0001336		
HP:0001337	biolink:PhenotypicFeature	Tremor	An unintentional, oscillating to-and-fro muscle movement about a joint axis.	UMLS:C0040822|MSH:D014202|SNOMEDCT_US:26079004	mondo.json	Tremor|Tremors	http://purl.obolibrary.org/obo/HP_0001337		
GO:0014052	biolink:NamedThing	regulation of gamma-aminobutyric acid secretion	Any process that modulates the frequency, rate or extent of the regulated release of gamma-aminobutyric acid.		mondo.json	regulation of GABA secretion	http://purl.obolibrary.org/obo/GO_0014052		
GO:0014051	biolink:NamedThing	gamma-aminobutyric acid secretion	The regulated release of gamma-aminobutyric acid by a cell or a tissue. The gamma-aminobutyric acid is the principal inhibitory neurotransmitter in the brain but is also found in several extraneural tissues.		mondo.json	GABA secretion	http://purl.obolibrary.org/obo/GO_0014051		
GO:0014050	biolink:NamedThing	negative regulation of glutamate secretion	Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of glutamate.		mondo.json	inhibition of glutamate secretion|downregulation of glutamate secretion|down-regulation of glutamate secretion|down regulation of glutamate secretion	http://purl.obolibrary.org/obo/GO_0014050		
FOODON:03510021	biolink:NamedThing	animal as food consumer			mondo.json		http://purl.obolibrary.org/obo/FOODON_03510021		
GO:0014056	biolink:NamedThing	regulation of acetylcholine secretion, neurotransmission	Any process that modulates the frequency, rate or extent of the regulated release of acetylcholine.		mondo.json		http://purl.obolibrary.org/obo/GO_0014056		
GO:0014055	biolink:NamedThing	acetylcholine secretion, neurotransmission	The regulated release of acetylcholine by a cell. The acetylcholine acts as a neurotransmitter that acts in both the peripheral nervous system (PNS) and central nervous system (CNS).		mondo.json		http://purl.obolibrary.org/obo/GO_0014055		
GO:0014054	biolink:NamedThing	positive regulation of gamma-aminobutyric acid secretion	Any process that activates or increases the frequency, rate or extent of the regulated release of gamma-aminobutyric acid.		mondo.json	up-regulation of gamma-aminobutyric acid secretion|up regulation of gamma-aminobutyric acid secretion|activation of gamma-aminobutyric acid secretion|stimulation of gamma-aminobutyric acid secretion|positive regulation of GABA secretion|upregulation of gamma-aminobutyric acid secretion	http://purl.obolibrary.org/obo/GO_0014054		
GO:0014053	biolink:NamedThing	negative regulation of gamma-aminobutyric acid secretion	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of gamma-aminobutyric acid.		mondo.json	down regulation of gamma-aminobutyric acid secretion|inhibition of gamma-aminobutyric acid secretion|downregulation of gamma-aminobutyric acid secretion|negative regulation of GABA secretion|down-regulation of gamma-aminobutyric acid secretion	http://purl.obolibrary.org/obo/GO_0014053		
HGNC:33067	biolink:NamedThing	SNORD116-1			mondo.json		http://identifiers.org/hgnc/33067		
HGNC:21062	biolink:NamedThing	FARS2			mondo.json		http://identifiers.org/hgnc/21062		
HP:0001305	biolink:PhenotypicFeature	Dandy-Walker malformation	A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.	UMLS:C0010964|MSH:D003616|SNOMEDCT_US:14447001	mondo.json	Dandy-walker anomaly|Dandy-Walker cyst	http://purl.obolibrary.org/obo/HP_0001305		
HGNC:21061	biolink:NamedThing	SERAC1			mondo.json		http://identifiers.org/hgnc/21061		
HP:0001300	biolink:PhenotypicFeature	Parkinsonism	Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.	UMLS:C0242422|MSH:D020734|SNOMEDCT_US:32798002	mondo.json	Parkinsonian disease	http://purl.obolibrary.org/obo/HP_0001300		
GO:0016684	biolink:NamedThing	oxidoreductase activity, acting on peroxide as acceptor	Catalysis of an oxidation-reduction (redox) reaction in which the peroxide group acts as a hydrogen or electron acceptor.		mondo.json		http://purl.obolibrary.org/obo/GO_0016684		
GO:0014020	biolink:NamedThing	primary neural tube formation	The formation of the neural tube from an epithelial cell sheet (the neuroepithelium or neural plate). In primary neurulation, the cells surrounding the neural plate direct the neural plate cells to proliferate, invaginate, and pinch off from the surface to form a hollow epithelial tube. Primary neurulation is the typical mechanism of formation of the anterior neural tube.		mondo.json	primary neurulation|primary neural tube morphogenesis|neural rod cavitation	http://purl.obolibrary.org/obo/GO_0014020		
HGNC:21071	biolink:NamedThing	IYD			mondo.json		http://identifiers.org/hgnc/21071		
GO:0002053	biolink:NamedThing	positive regulation of mesenchymal cell proliferation	The process of activating or increasing the rate or extent of mesenchymal cell proliferation. Mesenchymal cells are loosely organized embryonic cells.		mondo.json	activation of mesenchymal cell proliferation|upregulation of mesenchymal cell proliferation|up regulation of mesenchymal cell proliferation|stimulation of mesenchymal cell proliferation|up-regulation of mesenchymal cell proliferation	http://purl.obolibrary.org/obo/GO_0002053		
HP:0001317	biolink:PhenotypicFeature	Abnormal cerebellum morphology	Any structural abnormality of the cerebellum.	UMLS:C1866129|UMLS:C0742038	mondo.json	Cerebellar signs|Cerebellar abnormality|Abnormality of the cerebellum|Cerebellar abnormalities|Cerebellar anomaly	http://purl.obolibrary.org/obo/HP_0001317		
MONDO:0010297	biolink:Disease	FG syndrome 2	Any FG syndrome in which the cause of the disease is a mutation in the FLNA gene.	GARD:0009923|UMLS:C1845902|OMIM:300321	mondo.json	FGS2|FG syndrome caused by mutation in FLNA|FG syndrome type 2|FG syndrome 2|FLNA FG syndrome	http://purl.obolibrary.org/obo/MONDO_0010297	UMLS:C1845902|https://omim.org/entry/300321	gard_rare
MONDO:0010296	biolink:Disease	immunodeficiency 61		OMIM:300310|UMLS:C1845903|MESH:C538057|GARD:0010007	mondo.json	XLA2|AGMX2|agammaglobulinemia, X-linked, type 2|agammaglobulinemia X-linked type 2|immunodeficiency 61, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0010296	UMLS:C1845903|https://omim.org/entry/300310|http://identifiers.org/mesh/C538057	
MONDO:0010299	biolink:Disease	hypoxanthine guanine phosphoribosyltransferase partial deficiency	Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.	OMIM:300323|SCTID:238007004|ICD9:277.2|MESH:C562583|Orphanet:79233|UMLS:C0268117	mondo.json	HPRT-related gout|HPRT partial deficiency|HPRT deficiency, partial|HPRT deficiency, grade I|HPRT-related hyperuricemia|Hprt1 deficiency, partial|hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency|hyperuricemia, HRPT-related, X-linked recessive|KELLEY-Seegmiller syndrome|Kelley-Seegmiller syndrome|gout, HPRT-related|hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial|HPRT1 partial deficiency|hypoxanthine guanine phosphoribosyltransferase deficiency, grade I	http://purl.obolibrary.org/obo/MONDO_0010299	Orphanet:79233|https://omim.org/entry/300323|http://identifiers.org/snomedct/238007004|http://identifiers.org/mesh/C562583|UMLS:C0268117	ordo_disease
MONDO:0010298	biolink:Disease	Lesch-Nyhan syndrome	Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.	OMIM:300322|Orphanet:510|MedDRA:10057589|ICD9:277.2|DOID:1919|NCIT:C61255|GARD:0007226|UMLS:C0023374|MESH:D007926|ICD10CM:E79.1|UMLS:CN205196|SCTID:10406007	mondo.json	HG-PRT deficiency|hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome])|Lesch Nyhan disease|HPRT deficiency, complete|complete hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT deficiency, neurologic variant|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|X-linked hyperuricemia|hypoxanthine guanine phosphoribosyltransferase complete deficiency|HPRT complete deficiency|deficiency of IMP pyrophosphorylase|Lesch-Nyhan syndrome, X-linked recessive|X-linked hyperuricemia (disorder) [ambiguous]|LNS|Lesch - Nyhan syndrome|Lesch-Nyhan syndrome|HPRT deficiency grade IV|hypoxanthine guanine phospho-ribosyltransferase 1 deficiency|hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV|Hprt1 deficiency|Lesch-Nyhan syndrome, neurologic variant|HPRT deficiency|Lesch Nyhan syndrome	http://purl.obolibrary.org/obo/MONDO_0010298	Orphanet:510|http://identifiers.org/snomedct/10406007|http://purl.bioontology.org/ontology/ICD10CM/E79.1|UMLS:C0023374|NCIT:C61255|http://identifiers.org/mesh/D007926|https://omim.org/entry/300322|UMLS:CN205196|DOID:1919	ordo_disease
MONDO:0010291	biolink:Disease	obsolete androgen insensitivity syndrome due to coactivator deficiency		OMIM:300274	mondo.json	androgen insensitivity syndrome due to coactivator deficiency	http://purl.obolibrary.org/obo/MONDO_0010291	https://omim.org/entry/300274	
MONDO:0010290	biolink:Disease	goiter, multinodular 2		OMIM:300273|MESH:C564546|UMLS:C1846033	mondo.json	MNG2|goiter, multinodular, 2, X-linked dominant|goiter, multinodular 2	http://purl.obolibrary.org/obo/MONDO_0010290	http://identifiers.org/mesh/C564546|https://omim.org/entry/300273|UMLS:C1846033	
MONDO:0010293	biolink:Disease	ectodermal dysplasia and immune deficiency		GARD:0009936|UMLS:C1846006|SCTID:703525006|OMIMPS:300291|MESH:C536181|NCIT:C118844|Orphanet:98813	mondo.json	ectodermal dysplasia, anhidrotic, with immune deficiency|hypohidrotic ectodermal dysplasia with immunodeficiency|hypohidrotic ectodermal dysplasia with immune deficiency|Xhm-Ed|anhidrotic ectodermal dysplasia with immune deficiency|hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia|EDA-ID|ectodermal dysplasia, hypohidrotic, with immune deficiency|anhidrotic ectodermal dysplasia with immunodeficiency|HED-ID	http://purl.obolibrary.org/obo/MONDO_0010293	http://identifiers.org/mesh/C536181|Orphanet:98813|https://omim.org/phenotypicSeries/PS300291|UMLS:C1846006|http://identifiers.org/snomedct/703525006|NCIT:C118844	ordo_clinical_subtype
MONDO:0010292	biolink:Disease	Uruguay Faciocardiomusculoskeletal syndrome		OMIM:300280|UMLS:C1846010|MESH:C564544	mondo.json	Uruguay Faciocardiomusculoskeletal syndrome|faciocardiomusculoskeletal syndrome, Uruguay type|URUGUAY FACIOCARDIOMUSCULOSKELETAL syndrome|uruguay faciocardiomusculoskeletal syndrome, X-linked recessive|FCMSU|Fcms	http://purl.obolibrary.org/obo/MONDO_0010292	http://identifiers.org/mesh/C564544|https://omim.org/entry/300280|UMLS:C1846010	
GO:0014033	biolink:NamedThing	neural crest cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a neural crest cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0014033		
MONDO:0010295	biolink:Disease	anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome	This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.	SCTID:720986005|Orphanet:69088|MESH:C564538|OMIM:300301	mondo.json	ol-EDA-ID|ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema|OLEDAID	http://purl.obolibrary.org/obo/MONDO_0010295	http://identifiers.org/mesh/C564538|https://omim.org/entry/300301|http://identifiers.org/snomedct/720986005|Orphanet:69088	ordo_disease
GO:0014032	biolink:NamedThing	neural crest cell development	The process aimed at the progression of a neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0014032		
MONDO:0010294	biolink:Disease	X-linked severe congenital neutropenia	This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.	SCTID:718882006|OMIM:300299|UMLS:C1845987|GARD:0003981|Orphanet:86788|MESH:C564539	mondo.json	neutropenia, severe congenital, X-linked|Xln|X-linked severe congenital neutropenia|severe congenital neutropenia X-linked|severe congenital neutropenia, X-linked|neutropenia, severe congenital, X-linked, X-linked recessive|SCNX	http://purl.obolibrary.org/obo/MONDO_0010294	UMLS:C1845987|Orphanet:86788|http://identifiers.org/mesh/C564539|https://omim.org/entry/300299|http://identifiers.org/snomedct/718882006	gard_rare|ordo_disease
GO:0014031	biolink:NamedThing	mesenchymal cell development	The process aimed at the progression of a mesenchymal cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0014031		
GO:0002027	biolink:NamedThing	regulation of heart rate	Any process that modulates the frequency or rate of heart contraction.		mondo.json	cardiac chronotropy|regulation of rate of heart contraction|regulation of heart contraction rate	http://purl.obolibrary.org/obo/GO_0002027		
GO:0004689	biolink:NamedThing	phosphorylase kinase activity	Catalysis of the reaction: 4 ATP + 2 phosphorylase b = 4 ADP + phosphorylase a.		mondo.json	glycogen phosphorylase kinase activity|ATP:phosphorylase-b phosphotransferase activity|PHK|phosphorylase kinase, intrinsic catalyst activity|STK17|dephosphophosphorylase kinase activity|phosphorylase kinase (phosphorylating) activity|phosphorylase B kinase activity	http://purl.obolibrary.org/obo/GO_0004689		
GO:0002020	biolink:NamedThing	protease binding	Binding to a protease or a peptidase.		mondo.json		http://purl.obolibrary.org/obo/GO_0002020		
GO:0004683	biolink:NamedThing	calmodulin-dependent protein kinase activity	Calmodulin-dependent catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; and ATP + a protein threonine = ADP + protein threonine phosphate.		mondo.json	caldesmon kinase (phosphorylating) activity|multifunctional calcium/calmodulin regulated protein kinase activity|microtubule-associated protein 2 kinase activity|multifunctional calcium- and calmodulin-regulated protein kinase activity|Ca2+/calmodulin-dependent protein kinase IV activity|Ca2+/calmodulin-dependent protein kinase 1 activity|calmodulin-dependent protein kinase I activity|ATP:protein phosphotransferase (Ca2+/calmodulin-dependent) activity|calmodulin regulated protein kinase activity|Ca2+/calmodulin-dependent protein kinase II activity|CaMKKbeta|CaMKKalpha|calcium- and calmodulin-dependent protein kinase activity|CaM kinase II activity|Ca2+/calmodulin-dependent protein kinase kinase activity|CaMKI|CaMKII|CAM PKII|CaM kinase activity|calmodulin-dependent kinase II activity|ATP:caldesmon O-phosphotransferase activity|Ca2+/CaM-dependent kinase activity|calcium/calmodulin-dependent protein kinase type II activity|CaMKIV|Ca2+/calmodulin-dependent protein kinase activity|STK20|CaM-regulated serine/threonine kinase activity|Ca2+/calmodulin-dependent protein kinase kinase beta activity|calcium/calmodulin-dependent protein kinase activity|Ca2+/calmodulin-dependent microtubule-associated protein 2 kinase activity	http://purl.obolibrary.org/obo/GO_0004683		
HGNC:21042	biolink:NamedThing	NUS1			mondo.json		http://identifiers.org/hgnc/21042		
HGNC:21043	biolink:NamedThing	PITPNM3			mondo.json		http://identifiers.org/hgnc/21043		
HP:0001369	biolink:PhenotypicFeature	Arthritis	Inflammation of a joint.	SNOMEDCT_US:3723001|MSH:D001168|UMLS:C0003864	mondo.json	Joint inflammation|Arthritis	http://purl.obolibrary.org/obo/HP_0001369		
HP:0025337	biolink:PhenotypicFeature	Red eye	A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.		mondo.json	Red eyes|Red eye	http://purl.obolibrary.org/obo/HP_0025337		
HP:0001367	biolink:PhenotypicFeature	Abnormal joint morphology	An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.	UMLS:C0240083|UMLS:C0022408|MSH:D007592|SNOMEDCT_US:399269003	mondo.json	Abnormal shape of joints|Abnormality of the joints|Anomaly of the joints|Joint disease	http://purl.obolibrary.org/obo/HP_0001367		
GO:0016667	biolink:NamedThing	oxidoreductase activity, acting on a sulfur group of donors	Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor.		mondo.json	oxidoreductase activity, acting on sulfur group of donors, other acceptors|oxidoreductase activity, acting on sulphur group of donors	http://purl.obolibrary.org/obo/GO_0016667		
HGNC:21057	biolink:NamedThing	RSPH9			mondo.json		http://identifiers.org/hgnc/21057		
HGNC:21056	biolink:NamedThing	ERMARD			mondo.json		http://identifiers.org/hgnc/21056		
HGNC:21050	biolink:NamedThing	CDKAL1			mondo.json		http://identifiers.org/hgnc/21050		
HGNC:21054	biolink:NamedThing	RSPH3			mondo.json		http://identifiers.org/hgnc/21054		
HP:0001376	biolink:PhenotypicFeature	Limitation of joint mobility	A reduction in the freedom of movement of one or more joints.	UMLS:C1857108	mondo.json	Decreased joint mobility|Decreased mobility of joints|Limited joint mobility|Limitation of joint mobility|Limited joint motion	http://purl.obolibrary.org/obo/HP_0001376		
GO:2000272	biolink:NamedThing	negative regulation of signaling receptor activity	Any process that stops, prevents or reduces the frequency, rate or extent of a signaling receptor activity.		mondo.json	negative regulation of signalling receptor activity|negative regulation of receptor activity	http://purl.obolibrary.org/obo/GO_2000272		
GO:2000273	biolink:NamedThing	positive regulation of signaling receptor activity	Any process that activates or increases the frequency, rate or extent of signaling receptor activity.		mondo.json	positive regulation of signalling receptor activity	http://purl.obolibrary.org/obo/GO_2000273		
HP:0025323	biolink:PhenotypicFeature	Abnormal arterial physiology	An anomaly of arterial function.		mondo.json		http://purl.obolibrary.org/obo/HP_0025323		
GO:0016672	biolink:NamedThing	oxidoreductase activity, acting on a sulfur group of donors, quinone or similar compound as acceptor	Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces quinone or a related compound.		mondo.json	oxidoreductase activity, acting on sulphur group of donors, quinone or similar compound as acceptor	http://purl.obolibrary.org/obo/GO_0016672		
HGNC:33020	biolink:NamedThing	SNORD115-1			mondo.json		http://identifiers.org/hgnc/33020		
HP:0001373	biolink:PhenotypicFeature	Joint dislocation	Displacement or malalignment of joints.	MSH:D004204|SNOMEDCT_US:108367008|UMLS:C0012691|SNOMEDCT_US:87642003	mondo.json	Joint dislocations|Joint dislocation	http://purl.obolibrary.org/obo/HP_0001373		
CHEBI:137982	biolink:ChemicalSubstance	tertiary ammonium ion	An organic cation obtained by protonation of the amino group of any tertiary amino compound.		mondo.json	tertiary amine(1+)|tertiary ammonium ions|a tertiary amine	http://purl.obolibrary.org/obo/CHEBI_137982		
HP:0001370	biolink:PhenotypicFeature	Rheumatoid arthritis	Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures.	UMLS:C0003873|SNOMEDCT_US:69896004|MSH:D001172	mondo.json	RA|Rheumatoid arthritis	http://purl.obolibrary.org/obo/HP_0001370		
HP:0001371	biolink:PhenotypicFeature	Flexion contracture	A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.	SNOMEDCT_US:203598005|UMLS:C0009918|UMLS:C0009917|SNOMEDCT_US:57048009|MSH:D003286|UMLS:C1850530|SNOMEDCT_US:55033002|UMLS:C0333068|SNOMEDCT_US:7890003|SNOMEDCT_US:88565003|SNOMEDCT_US:385522000	mondo.json	Joint contracture|Flexion contractures of joints|Flexion contractures|Contractures|Contracture|Flexed joint that cannot be straightened|Joint contractures	http://purl.obolibrary.org/obo/HP_0001371		
GO:0016670	biolink:NamedThing	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces oxygen.		mondo.json	oxidoreductase activity, acting on sulphur group of donors, oxygen as acceptor	http://purl.obolibrary.org/obo/GO_0016670		
CHEBI:137980	biolink:ChemicalSubstance	metalloid atom	An atom of an element that exhibits properties that are between those of metals and nonmetals, or that has a mixture of them. The term generally includes boron, silicon, germanium, arsenic, antimony, and tellurium, while carbon, aluminium, selenium, polonium, and astatine are less commonly included.		mondo.json	metalloids|metalloid	http://purl.obolibrary.org/obo/CHEBI_137980		
HGNC:21024	biolink:NamedThing	CUL7			mondo.json		http://identifiers.org/hgnc/21024		
GO:0002007	biolink:NamedThing	detection of hypoxic conditions in blood by chemoreceptor signaling	The process in which information about a lack of oxygen are received and are converted to a molecular signal by chemoreceptors in the carotid bodies and the aortic bodies.		mondo.json	detection of hypoxic conditions in blood by chemoreceptor signalling	http://purl.obolibrary.org/obo/GO_0002007		
HGNC:21022	biolink:NamedThing	AARS2			mondo.json		http://identifiers.org/hgnc/21022		
GO:2000283	biolink:NamedThing	negative regulation of cellular amino acid biosynthetic process	Any process that stops, prevents or reduces the frequency, rate or extent of cellular amino acid biosynthetic process.		mondo.json	negative regulation of cellular amino acid anabolism|negative regulation of amino acid biosynthetic process|negative regulation of cellular amino acid synthesis|negative regulation of cellular amino acid formation|negative regulation of cellular amino acid biosynthesis	http://purl.obolibrary.org/obo/GO_2000283		
GO:0016646	biolink:NamedThing	oxidoreductase activity, acting on the CH-NH group of donors, NAD or NADP as acceptor	Catalysis of an oxidation-reduction (redox) reaction in which a CH-NH group acts as a hydrogen or electron donor and reduces NAD or NADP.		mondo.json		http://purl.obolibrary.org/obo/GO_0016646		
GO:2000284	biolink:NamedThing	positive regulation of cellular amino acid biosynthetic process	Any process that activates or increases the frequency, rate or extent of cellular amino acid biosynthetic process.		mondo.json	positive regulation of amino acid biosynthetic process|positive regulation of cellular amino acid anabolism|positive regulation of cellular amino acid biosynthesis|positive regulation of cellular amino acid synthesis|positive regulation of cellular amino acid formation	http://purl.obolibrary.org/obo/GO_2000284		
GO:0016645	biolink:NamedThing	oxidoreductase activity, acting on the CH-NH group of donors	Catalysis of an oxidation-reduction (redox) reaction in which a CH-NH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor.		mondo.json	oxidoreductase activity, acting on the CH-NH group of donors, other acceptors	http://purl.obolibrary.org/obo/GO_0016645		
GO:0002009	biolink:NamedThing	morphogenesis of an epithelium	The process in which the anatomical structures of epithelia are generated and organized. An epithelium consists of closely packed cells arranged in one or more layers, that covers the outer surfaces of the body or lines any internal cavity or tube.		mondo.json	epithelium morphogenesis	http://purl.obolibrary.org/obo/GO_0002009		
GO:2000282	biolink:NamedThing	regulation of cellular amino acid biosynthetic process	Any process that modulates the frequency, rate or extent of cellular amino acid biosynthetic process.		mondo.json	regulation of cellular amino acid formation|regulation of amino acid biosynthetic process|regulation of cellular amino acid biosynthesis|regulation of cellular amino acid anabolism|regulation of cellular amino acid synthesis	http://purl.obolibrary.org/obo/GO_2000282		
HGNC:21034	biolink:NamedThing	NDUFAF4			mondo.json		http://identifiers.org/hgnc/21034		
GO:0004674	biolink:NamedThing	protein serine/threonine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.		mondo.json	protein serine kinase activity|protein threonine kinase activity|protein-serine kinase activity|threonine-specific protein kinase activity|protein kinase (phosphorylating) activity|serine/threonine protein kinase activity|serine protein kinase activity|protein phosphokinase activity|serine-specific protein kinase activity|serine(threonine) protein kinase activity|serine kinase activity|protein serine-threonine kinase activity	http://purl.obolibrary.org/obo/GO_0004674		
GO:0004672	biolink:NamedThing	protein kinase activity	Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP.		mondo.json	protamine kinase activity	http://purl.obolibrary.org/obo/GO_0004672		
HGNC:21033	biolink:NamedThing	HACE1			mondo.json		http://identifiers.org/hgnc/21033		
GO:2000294	biolink:NamedThing	positive regulation of defecation	Any process that activates or increases the frequency, rate or extent of defecation.		mondo.json		http://purl.obolibrary.org/obo/GO_2000294		
HGNC:6901	biolink:NamedThing	MASP1			mondo.json		http://identifiers.org/hgnc/6901		
HGNC:6902	biolink:NamedThing	MASP2			mondo.json		http://identifiers.org/hgnc/6902		
GO:0016651	biolink:NamedThing	oxidoreductase activity, acting on NAD(P)H	Catalysis of an oxidation-reduction (redox) reaction in which NADH or NADPH acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor.		mondo.json	oxidoreductase activity, acting on NADH or NADPH|NAD(P)H dehydrogenase|oxidoreductase activity, acting on NADH or NADPH, other acceptor	http://purl.obolibrary.org/obo/GO_0016651		
GO:2000292	biolink:NamedThing	regulation of defecation	Any process that modulates the frequency, rate or extent of defecation.		mondo.json		http://purl.obolibrary.org/obo/GO_2000292		
GO:2000293	biolink:NamedThing	negative regulation of defecation	Any process that stops, prevents or reduces the frequency, rate or extent of defecation.		mondo.json		http://purl.obolibrary.org/obo/GO_2000293		
MONDO:0000795	biolink:Disease	obsolete penicillin allergy	OBSOLETE. An allergy to Penicillin.	SCTID:91936005|ICD9:V14.0|DOID:0060520|ICD9:995.27|UMLS:C0030824|NCIT:C34911	mondo.json	penicillin allergic disease|allergy of penicillin	http://purl.obolibrary.org/obo/MONDO_0000795	UMLS:C0030824|NCIT:C34911|http://identifiers.org/snomedct/91936005|DOID:0060520	
MONDO:0000794	biolink:Disease	obsolete beta-lactam allergy	OBSOLETE. A allergy involving a beta-lactam.	DOID:0060519	mondo.json	allergy of beta-lactam|beta-lactam allergic disease	http://purl.obolibrary.org/obo/MONDO_0000794	DOID:0060519	
MONDO:0000793	biolink:Disease	obsolete rainbow trout allergy	OBSOLETE. A allergy involving a Oncorhynchus mykiss.	DOID:0060518	mondo.json	Oncorhynchus mykiss allergy|Oncorhynchus mykiss caused allergic disease|allergy of Oncorhynchus mykiss|Oncorhynchus mykiss allergic disease	http://purl.obolibrary.org/obo/MONDO_0000793	DOID:0060518	
MONDO:0000792	biolink:Disease	obsolete zebrafish allergy		DOID:0060517	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000792	DOID:0060517	
HGNC:23785	biolink:NamedThing	PIKFYVE			mondo.json		http://identifiers.org/hgnc/23785		
MONDO:0000799	biolink:Disease	obsolete crustacean allergy	OBSOLETE. A allergic disease involving a crustacean food product.	DOID:0060524	mondo.json	allergy of crustacean food product|crustacean food product allergic disease	http://purl.obolibrary.org/obo/MONDO_0000799	DOID:0060524	
MONDO:0022103	biolink:Disease	chronic prostatitis	An infectious or non-infectious chronic inflammatory process that affects the prostate gland.	SCTID:19905009|UMLS:C0085696|NCIT:C26930|ICD9:601.1	mondo.json	Chronic prostatitis|chronic prostatitis|Chronic Prostatitis	http://purl.obolibrary.org/obo/MONDO_0022103	NCIT:C26930|http://identifiers.org/snomedct/19905009|UMLS:C0085696	
MONDO:0000798	biolink:Disease	obsolete mollusc allergy	OBSOLETE. A allergic disease involving a mollusc food product.	DOID:0060523	mondo.json	mollusc food product allergic disease|allergy of mollusc food product	http://purl.obolibrary.org/obo/MONDO_0000798	DOID:0060523	
MONDO:0000797	biolink:Disease	obsolete goat milk allergy	OBSOLETE. A allergy involving goat milk.	DOID:0060522	mondo.json	Capra hircus milk allergy|allergy of goat dairy food product|goat dairy food product allergic disease	http://purl.obolibrary.org/obo/MONDO_0000797	DOID:0060522	
MONDO:0000796	biolink:Disease	obsolete cow milk allergy	OBSOLETE. A allergy involving cow mile.	DOID:0060521	mondo.json	cow milk allergy|Bos taurus milk allergy|cow milk based food product allergic disease|obsolete cow milk allergy (disease)|allergy of cow milk based food product	http://purl.obolibrary.org/obo/MONDO_0000796	DOID:0060521	
MONDO:0009129	biolink:Disease	dwarfism, proportionate, with hip dislocation		OMIM:223550|UMLS:C1857196|GARD:0010606|MESH:C565614	mondo.json	dwarfism, proportionate with hip dislocation|dwarfism, proportionate, with hip dislocation	http://purl.obolibrary.org/obo/MONDO_0009129	http://identifiers.org/mesh/C565614|https://omim.org/entry/223550|UMLS:C1857196	gard_rare
HP:0001967	biolink:PhenotypicFeature	Diffuse mesangial sclerosis	Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.	SNOMEDCT_US:111406002|UMLS:C0268747|MSH:C537346	mondo.json	Diffuse mesangial sclerosis glomerulopathy|Mesangial sclerosis	http://purl.obolibrary.org/obo/HP_0001967		
MONDO:0010118	biolink:Disease	inherited threoninemia		OMIM:273770	mondo.json	hyperthreoninemia|threoninemia	http://purl.obolibrary.org/obo/MONDO_0010118	https://omim.org/entry/273770	n_of_one
MONDO:0009128	biolink:Disease	dwarfism, intellectual disability, and eye abnormality		OMIM:223540|MESH:C535809|Orphanet:2650|UMLS:C0796076	mondo.json	dwarfism, intellectual disability, and eye abnormality|dwarfism, mental retardation, and eye abnormality|Mollica syndrome	http://purl.obolibrary.org/obo/MONDO_0009128	Orphanet:2650|https://omim.org/entry/223540|http://identifiers.org/mesh/C535809|UMLS:C0796076	
MONDO:0010117	biolink:Disease	3M syndrome 1	Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene.	OMIM:273750	mondo.json	Dolichospondylic dysplasia|3M syndrome|3-M syndrome caused by mutation in CUL7|three M syndrome 1|3-M syndrome caused by mutation in Cul7|Le Merrer syndrome|gloomy face syndrome|3M1|3-M syndrome 1|CUL7 3-M syndrome|Cul7 3-M syndrome|Yakut short stature syndrome|three M syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0010117	https://omim.org/entry/273750	
MONDO:0012779	biolink:Disease	celiac disease, susceptibility to, 10		OMIM:612008	mondo.json	celiac disease, susceptibility to, 10|gluten-sensitive enteropathy, susceptibility to, 10|CELIAC10	http://purl.obolibrary.org/obo/MONDO_0012779	https://omim.org/entry/612008	predisposition
MONDO:0009127	biolink:Disease	dwarfism, low-birth-weight type, with unresponsiveness to growth hormone		UMLS:C1857197|MESH:C565615|GARD:0003293|OMIM:223500	mondo.json	dwarfism, low-birth-weight type, with unresponsiveness to growth hormone|dwarfism, low-birth-weight type with unresponsiveness to growth hormone	http://purl.obolibrary.org/obo/MONDO_0009127	http://identifiers.org/mesh/C565615|https://omim.org/entry/223500|UMLS:C1857197	gard_rare
HP:0001965	biolink:PhenotypicFeature	Abnormal scalp morphology	Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.	UMLS:C4025734	mondo.json	Anomaly of scalp|Abnormality of the scalp	http://purl.obolibrary.org/obo/HP_0001965		
MONDO:0009126	biolink:Disease	duodenal atresia	Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen.	ICD9:751.1|MESH:C535720|UMLS:C0266174|Orphanet:1203|OMIM:223400|SCTID:51118003|HP:0002247|GARD:0000054|MedDRA:10013812|DOID:0080216|NCIT:C101025	mondo.json	congenital atresia of duodenum|atresia of duodenum|duodenal stenosis|duodenal atresia|duodenal atresia (disease)|congenital duodenal atresia	http://purl.obolibrary.org/obo/MONDO_0009126	http://identifiers.org/snomedct/51118003|NCIT:C101025|http://identifiers.org/mesh/C535720|https://omim.org/entry/223400|UMLS:C0266174|Orphanet:1203|DOID:0080216	ordo_morphological_anomaly|gard_rare
HP:0001966	biolink:PhenotypicFeature	Abnormal glomerular mesangium morphology	An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries.	UMLS:C4025733	mondo.json	Mesangial abnormality|Abnormality glomerular mesangium morphology|Abnormality of the glomerular mesangium	http://purl.obolibrary.org/obo/HP_0001966		
MONDO:0010119	biolink:Disease	obsolete Glanzmann's thrombasthenia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010119		
MONDO:0000791	biolink:Disease	obsolete carp allergy	OBSOLETE. A allergy involving a Cyprinus carpio.	DOID:0060516	mondo.json	Cyprinus carpio fish allergy|Cyprinus carpio caused allergic disease|allergy of Cyprinus carpio|Cyprinus carpio allergic disease	http://purl.obolibrary.org/obo/MONDO_0000791	DOID:0060516	
MONDO:0009125	biolink:Disease	obsolete dopamine beta-hydroxylase, plasma, thermolability of		OMIM:223380	mondo.json	dopamine beta-hydroxylase, plasma, thermolability of	http://purl.obolibrary.org/obo/MONDO_0009125	https://omim.org/entry/223380	
MONDO:0009124	biolink:Disease	Dubowitz syndrome	Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.	SCTID:2593002|GARD:0006290|UMLS:C0175691|NCIT:C125591|ICD9:742.8|Orphanet:235|MedDRA:10059589|DOID:14796|OMIM:223370|MESH:C535718	mondo.json	intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci|Dubowitz syndrome|Dubowitz's syndrome|intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behavior problems, eczema, and unusual and distinctive faci|dwarfism-eczema-peculiar facies syndrome	http://purl.obolibrary.org/obo/MONDO_0009124	Orphanet:235|UMLS:C0175691|https://omim.org/entry/223370|DOID:14796|http://identifiers.org/mesh/C535718|NCIT:C125591|http://identifiers.org/snomedct/2593002	gard_rare|ordo_malformation_syndrome
MONDO:0000790	biolink:Disease	obsolete Atlantic salmon allergy	OBSOLETE. A allergy involving a Salmo salar.	DOID:0060515	mondo.json	Salmo salar caused allergic disease|Salmo salar allergic disease|allergy of Salmo salar|Salmo salar fish allergy	http://purl.obolibrary.org/obo/MONDO_0000790	DOID:0060515	
MONDO:0009123	biolink:Disease	dopamine beta-hydroxylase deficiency	Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension.	ICD9:270.8|OMIM:223360|SCTID:237923004|UMLS:C0342687|GARD:0001903|GARD:1903|Orphanet:230|MESH:C535600|DOID:0090145	mondo.json	dopamine beta hydroxylase deficiency|dopamine BETA-HYDROXYLASE deficiency, congenital|dopamine beta-hydroxylase deficiency|norepinephrine deficiency|orthostatic hypotension 1, due to DBH deficiency|congenital dopamine beta-hydroxylase deficiency|noradrenaline deficiency	http://purl.obolibrary.org/obo/MONDO_0009123	DOID:0090145|UMLS:C0342687|https://omim.org/entry/223360|http://identifiers.org/mesh/C535600|http://identifiers.org/snomedct/237923004|Orphanet:230	ordo_disease|gard_rare
MONDO:0009122	biolink:Disease	Dohle bodies and leukemia		OMIM:223350|UMLS:C1857225|MESH:C565617	mondo.json	Dohle bodies and leukemia	http://purl.obolibrary.org/obo/MONDO_0009122	http://identifiers.org/mesh/C565617|https://omim.org/entry/223350|UMLS:C1857225	
MONDO:0010121	biolink:Disease	thrombocytopenia-absent radius syndrome	Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.	UMLS:C0175703|DECIPHER:64|ICD9:759.89|NCIT:C99038|SCTID:85589009|MedDRA:10071719|Orphanet:3320|OMIM:274000|GARD:0005116|MESH:C536940|DOID:14699	mondo.json	1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndrome|chromosome 1Q21.1 deletion syndrome, 200-Kb|thrombocytopenia absent radii|thrombocytopenia-absent radius syndrome|Tar syndrome|TAR|TAR syndrome|absent radii and thrombocytopenia|thrombocytopenia absent radius syndrome|thrombocytopenia with absent radii (TAR) syndrome|radial aplasia-thrombocytopenia syndrome	http://purl.obolibrary.org/obo/MONDO_0010121	https://omim.org/entry/274000|Orphanet:3320|http://identifiers.org/snomedct/85589009|UMLS:C0175703|NCIT:C99038|DOID:14699|http://identifiers.org/mesh/C536940	ordo_malformation_syndrome
MONDO:0009121	biolink:Disease	von Voss-Cherstvoy syndrome	Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.	Orphanet:3439|OMIM:223340|GARD:0001894|MESH:C565618|UMLS:C1857226|SCTID:719021005	mondo.json	phocomelia, thrombocytopenia, encephalocele, urogenital malformations|von Voss-Cherstvoy syndrome|Von Voss Cherstvoy syndrome|phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome|phocomelia thrombocytopenia encephalocele and urogenital malformations|DK phocomelia syndrome	http://purl.obolibrary.org/obo/MONDO_0009121	http://identifiers.org/mesh/C565618|http://identifiers.org/snomedct/719021005|https://omim.org/entry/223340|Orphanet:3439|UMLS:C1857226	ordo_malformation_syndrome
MONDO:0012784	biolink:Disease	autosomal recessive ataxia due to ubiquinone deficiency	This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.	UMLS:C4511089|SCTID:725394006|Orphanet:139485|MESH:C567436|OMIM:612016|DOID:0070241|GARD:0010294|UMLS:C2677589	mondo.json	autosomal recessive cerebellar ataxia type 2|autosomal recessive ataxia due to coenzyme Q10 deficiency|coenzyme Q10 deficiency, primary, type 4|autosomal recessive spinocerebellar ataxia 9|coenzyme Q10 deficiency, primary, 4|spinocerebellar ataxia, autosomal recessive 9|SCAR9|COQ10D4|autosomal recessive spinocerebellar ataxia type 9|ARCA2	http://purl.obolibrary.org/obo/MONDO_0012784	DOID:0070241|UMLS:C2677589|http://identifiers.org/mesh/C567436|http://identifiers.org/snomedct/725394006|UMLS:C4511089|https://omim.org/entry/612016|Orphanet:139485	ordo_disease
HGNC:4298	biolink:NamedThing	GLB1			mondo.json		http://identifiers.org/hgnc/4298		
MONDO:0009120	biolink:Disease	diverticulosis of bowel, hernia, and retinal detachment	A syndromic intestinal malformation characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions.	UMLS:C1857227|GARD:0003401|MESH:C565619|Orphanet:2464|OMIM:223330	mondo.json	Marphanoid syndrome type De Silva|marfanoid syndrome, De Silva type|diverticulosis of bowel, hernia, and retinal detachment	http://purl.obolibrary.org/obo/MONDO_0009120	http://identifiers.org/mesh/C565619|https://omim.org/entry/223330|UMLS:C1857227|Orphanet:2464	ordo_malformation_syndrome|gard_rare
MONDO:0012785	biolink:Disease	pyloric stenosis, infantile hypertrophic, 3		OMIM:612017|MESH:C567435|UMLS:C2677588	mondo.json	IHPS3|pyloric stenosis, infantile hypertrophic, 3	http://purl.obolibrary.org/obo/MONDO_0012785	https://omim.org/entry/612017|UMLS:C2677588|http://identifiers.org/mesh/C567435	
MONDO:0010120	biolink:Disease	thrombocytopenia 3		MESH:C567487|OMIM:273900|UMLS:C2678311	mondo.json	thrombocytopenia, autosomal recessive, 3|thrombocytopenia 3|THC3	http://purl.obolibrary.org/obo/MONDO_0010120	UMLS:C2678311|http://identifiers.org/mesh/C567487|https://omim.org/entry/273900	
MONDO:0010123	biolink:Disease	absent thumb-short stature-immunodeficiency syndrome	An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.	Orphanet:2951|MESH:C564770|UMLS:C1848818|OMIM:274190	mondo.json	thumb agenesis, short stature, and immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0010123	https://omim.org/entry/274190|UMLS:C1848818|Orphanet:2951|http://identifiers.org/mesh/C564770	ordo_malformation_syndrome
MONDO:0012782	biolink:Disease	celiac disease, susceptibility to, 13		OMIM:612011	mondo.json	celiac disease, susceptibility to, 13|gluten-sensitive enteropathy, susceptibility to, 13|CELIAC13	http://purl.obolibrary.org/obo/MONDO_0012782	https://omim.org/entry/612011	predisposition
HGNC:4296	biolink:NamedThing	GLA			mondo.json		http://identifiers.org/hgnc/4296		
MONDO:0010122	biolink:Disease	congenital thrombotic thrombocytopenic purpura	Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.	Orphanet:93583|GARD:0009430|OMIM:274150|SCTID:373420004|ICD10CM:M31.3|ICD9:287.33|NCIT:C131657	mondo.json	Upshaw Factor, deficiency of|congenital thrombotic thrombocytopenic purpura|thrombotic microangiopathy, familial|Microangiopathic hemolytic Anemia|TTP|USS|congenital ADAMTS-13 deficiency|congenital TTP|Schulman-Upshaw syndrome|Microangiopathic hemolytic Anemia, congenital|thrombotic thrombocytopenic purpura, familial|thrombotic thrombocytopenic purpura, congenital|thrombotic thrombocytopenic purpura, hereditary|familial TTP|hereditary thrombotic thrombocytopenic purpura|congenital ADAMTS13 deficiency|Upshaw-Schulman syndrome|TTP, congenital	http://purl.obolibrary.org/obo/MONDO_0010122	https://omim.org/entry/274150|Orphanet:93583|http://identifiers.org/snomedct/373420004|NCIT:C131657	ordo_clinical_subtype
MONDO:0012783	biolink:Disease	RFT1-congenital disorder of glycosylation	RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).	Orphanet:244310|DOID:0080566|MESH:C567437|OMIM:612015|SCTID:733084000|GARD:0012394|UMLS:C2677590	mondo.json	CDG in|RFT1-congenital disorder of glycosylation|RFT1-CDG|CDG syndrome type In|Man5GlcNAc2-PP-Dol flippase deficiency|congenital disorder of glycosylation type In|CDG1N|congenital disorder of glycosylation, type In|CDGIN|congenital disorder of glycosylation type 1n|CDG-In|carbohydrate deficient glycoprotein syndrome type In|RFT1-CDG (CDG-In)	http://purl.obolibrary.org/obo/MONDO_0012783	http://identifiers.org/snomedct/733084000|Orphanet:244310|UMLS:C2677590|http://identifiers.org/mesh/C567437|DOID:0080566|https://omim.org/entry/612015	ordo_disease
MONDO:0010125	biolink:Disease	upper limb defect-eye and ear abnormalities syndrome	Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.	UMLS:C1848816|OMIM:274205|MESH:C564769|Orphanet:2489	mondo.json	thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness	http://purl.obolibrary.org/obo/MONDO_0010125	https://omim.org/entry/274205|UMLS:C1848816|Orphanet:2489|http://identifiers.org/mesh/C564769	ordo_malformation_syndrome
MONDO:0012788	biolink:Disease	coronary heart disease, susceptibility to, 9		OMIM:612030	mondo.json	CHDS9|coronary heart disease, susceptibility to, 9	http://purl.obolibrary.org/obo/MONDO_0012788	https://omim.org/entry/612030	predisposition
CHEBI:16733	biolink:ChemicalSubstance	D-alpha-amino acid			mondo.json	D-alpha-amino acids|D-alpha-amino acids|D-alpha-amino acid|D-Amino acid	http://purl.obolibrary.org/obo/CHEBI_16733		
MONDO:0012789	biolink:Disease	dystonia 16	Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.	GARD:0010539|Orphanet:210571|SCTID:722435003|DOID:0090048|OMIM:612067|UMLS:C2677567|MESH:C567430	mondo.json	dystonia type 16|PRKRA dystonic disorder|dystonia 16|DYT16|dystonic disorder caused by mutation in PRKRA|Young-onset dystonia-(parkinsonism)|DYT-PRKRA|early-onset dystonia parkinsonism	http://purl.obolibrary.org/obo/MONDO_0012789	https://omim.org/entry/612067|UMLS:C2677567|http://identifiers.org/mesh/C567430|DOID:0090048|http://identifiers.org/snomedct/722435003|Orphanet:210571	ordo_disease|gard_rare
MONDO:0010124	biolink:Disease	thumb, distal hyperextensibility of		OMIM:274200	mondo.json	thumb, distal hyperextensibility of	http://purl.obolibrary.org/obo/MONDO_0010124	https://omim.org/entry/274200	
NCBITaxon:123736	biolink:OrganismalEntity	Oestrus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_123736		
MONDO:0012786	biolink:Disease	juvenile cataract-microcornea-renal glucosuria syndrome	Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.	UMLS:C2677587|SCTID:722457005|OMIM:612018|Orphanet:247794|MESH:C567434|DOID:0070353	mondo.json	juvenile cataract-microcornea-renal glucosuria syndrome|cataract, juvenile, with microcornea and glucosuria|cataract, juvenile, with microcornea|CTRCT47|cataract 47|cataract, juvenile, with microcornea and glucosuria, formerly|cataract 47, juvenile, with microcornea|CJMG	http://purl.obolibrary.org/obo/MONDO_0012786	https://omim.org/entry/612018|Orphanet:247794|http://identifiers.org/snomedct/722457005|DOID:0070353|UMLS:C2677587|http://identifiers.org/mesh/C567434	ordo_disease
NCBITaxon:123737	biolink:OrganismalEntity	Oestrus ovis		GC_ID:1	mondo.json	sheep bot fly	http://purl.obolibrary.org/obo/NCBITaxon_123737		
MONDO:0010127	biolink:Disease	thymoma, familial	An instance of thymoma (disease) that is caused by an inherited modification of the individual's genome.	UMLS:C1848814|MESH:C564767|OMIM:274230	mondo.json	hereditary thymoma (disease)|thymoma, familial|thymic neoplasia	http://purl.obolibrary.org/obo/MONDO_0010127	https://omim.org/entry/274230|UMLS:C1848814|http://identifiers.org/mesh/C564767	
MONDO:0012787	biolink:Disease	hereditary spastic paraplegia 39	This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting.	UMLS:C4304963|DOID:0110790|UMLS:C2677586|SCTID:719103009|GARD:0004924|OMIM:612020|Orphanet:139480|MESH:C567433	mondo.json	hereditary spastic paraplegia caused by mutation in PNPLA6|PNPLA6 hereditary spastic paraplegia|NTEMND|spastic paraplegia due to NTE mutation|autosomal recessive spastic paraplegia 39|NTE-related motor neuron disorder|spastic paraplegia 39, autosomal recessive|hereditary spastic paraplegia type 39|spastic paraplegia 39|NTE related motor neuron disorder|spastic paraplegia due to neuropathy target esterase mutation|SPG39|autosomal recessive spastic paraplegia type 39	http://purl.obolibrary.org/obo/MONDO_0012787	Orphanet:139480|https://omim.org/entry/612020|http://identifiers.org/snomedct/719103009|UMLS:C2677586|http://identifiers.org/mesh/C567433|UMLS:C4304963|DOID:0110790	ordo_disease
MONDO:0010126	biolink:Disease	thymic aplasia with fetal death		UMLS:C1848815|MESH:C564768|OMIM:274210	mondo.json	thymic aplasia with fetal death	http://purl.obolibrary.org/obo/MONDO_0010126	UMLS:C1848815|https://omim.org/entry/274210|http://identifiers.org/mesh/C564768	
HP:0001962	biolink:PhenotypicFeature	Palpitations	A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.	SNOMEDCT_US:80313002|UMLS:C0030252	mondo.json	Missed heart beat|Heart palpitations|Skipped heart beat|Palpitations	http://purl.obolibrary.org/obo/HP_0001962		
GO:0051195	biolink:NamedThing	obsolete negative regulation of cofactor metabolic process	OBSOLETE. Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a cofactor.		mondo.json	downregulation of cofactor metabolic process|negative regulation of cofactor metabolism|down regulation of cofactor metabolic process|inhibition of cofactor metabolic process|down-regulation of cofactor metabolic process	http://purl.obolibrary.org/obo/GO_0051195		
GO:0051196	biolink:NamedThing	obsolete regulation of coenzyme metabolic process	OBSOLETE. Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a coenzyme.		mondo.json	regulation of coenzyme and prosthetic group metabolic process|regulation of coenzyme and prosthetic group metabolism|regulation of coenzyme metabolism	http://purl.obolibrary.org/obo/GO_0051196		
GO:0051193	biolink:NamedThing	obsolete regulation of cofactor metabolic process	OBSOLETE. Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a cofactor.		mondo.json	regulation of cofactor metabolism	http://purl.obolibrary.org/obo/GO_0051193		
MONDO:0000789	biolink:Disease	obsolete Atlantic cod allergy	OBSOLETE. A allergy involving a Gadus morhua.	DOID:0060514	mondo.json	Gadus morhua fish allergy|Gadus morhua allergic disease|Gadus morhua caused allergic disease|allergy of Gadus morhua	http://purl.obolibrary.org/obo/MONDO_0000789	DOID:0060514	
GO:0051194	biolink:NamedThing	obsolete positive regulation of cofactor metabolic process	OBSOLETE. Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a cofactor.		mondo.json	up regulation of cofactor metabolic process|stimulation of cofactor metabolic process|positive regulation of cofactor metabolism|up-regulation of cofactor metabolic process|activation of cofactor metabolic process|upregulation of cofactor metabolic process	http://purl.obolibrary.org/obo/GO_0051194		
MONDO:0012780	biolink:Disease	celiac disease, susceptibility to, 11		OMIM:612009	mondo.json	celiac disease, susceptibility to, 11|CELIAC11|gluten-sensitive enteropathy, susceptibility to, 11	http://purl.obolibrary.org/obo/MONDO_0012780	https://omim.org/entry/612009	predisposition
MONDO:0012781	biolink:Disease	celiac disease, susceptibility to, 12		OMIM:612010	mondo.json	celiac disease, susceptibility to, 12|gluten-sensitive enteropathy, susceptibility to, 12|CELIAC12	http://purl.obolibrary.org/obo/MONDO_0012781	https://omim.org/entry/612010	predisposition
GO:0051197	biolink:NamedThing	obsolete positive regulation of coenzyme metabolic process	OBSOLETE. Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a coenzyme.		mondo.json	positive regulation of coenzyme and prosthetic group metabolism|stimulation of coenzyme metabolic process|up regulation of coenzyme metabolic process|up-regulation of coenzyme metabolic process|activation of coenzyme metabolic process|positive regulation of coenzyme metabolism|positive regulation of coenzyme and prosthetic group metabolic process|upregulation of coenzyme metabolic process	http://purl.obolibrary.org/obo/GO_0051197		
GO:0051198	biolink:NamedThing	obsolete negative regulation of coenzyme metabolic process	OBSOLETE. Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a coenzyme.		mondo.json	negative regulation of coenzyme and prosthetic group metabolic process|downregulation of coenzyme metabolic process|down regulation of coenzyme metabolic process|negative regulation of coenzyme metabolism|inhibition of coenzyme metabolic process|negative regulation of coenzyme and prosthetic group metabolism|down-regulation of coenzyme metabolic process	http://purl.obolibrary.org/obo/GO_0051198		
MONDO:0024757	biolink:Disease	cardiovascular neoplasm	A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma.	SCTID:721573003|NCIT:C4784	mondo.json	cardiovascular neoplasm|neoplasm of cardiovascular system|cardiovascular system tumor|cardiovascular system neoplasm|cardiovascular tumor|tumor of cardiovascular system	http://purl.obolibrary.org/obo/MONDO_0024757	NCIT:C4784|http://identifiers.org/snomedct/721573003	
GO:0099143	biolink:NamedThing	presynaptic actin cytoskeleton	The actin cytoskeleton that is part of a presynapse.		mondo.json		http://purl.obolibrary.org/obo/GO_0099143		
MONDO:0010107	biolink:Disease	obsolete testicular regression syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010107		
MONDO:0009139	biolink:Disease	dyssegmental dysplasia, Rolland-Desbuquois type		MESH:C537999|UMLS:C0432209|ICD9:756.59|GARD:0009810|Orphanet:156731|SCTID:95243004|OMIM:224400	mondo.json	Anisospondylic Camptomicromelic dwarfism, Rolland-Desbuquois type|Anisospondylic camptomicromelic dwarfism Rolland-Desbuquois type|dyssegmental dysplasia, Rolland-Desbuquois type|dyssegmental dysplasia Rolland-Desbuquois type|dyssegmental dwarfism, Rolland-Desbuquois type|Ddrd|dyssegmental dwarfism Rolland-Desbuquois type	http://purl.obolibrary.org/obo/MONDO_0009139	https://omim.org/entry/224400|http://identifiers.org/mesh/C537999|UMLS:C0432209|http://identifiers.org/snomedct/95243004|Orphanet:156731	gard_rare|ordo_disease
MONDO:0010106	biolink:Disease	testes, rudimentary		OMIM:273150	mondo.json	testes, rudimentary	http://purl.obolibrary.org/obo/MONDO_0010106	https://omim.org/entry/273150	
MONDO:0010109	biolink:Disease	tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities		GARD:0003348|GARD:0005146|MESH:C536496|OMIM:273390	mondo.json	tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities|Madokoro Ohdo Sonoda syndrome|tetra-amelia, ectodermal dysplasia, and lacrimal duct abnormality	http://purl.obolibrary.org/obo/MONDO_0010109	http://identifiers.org/mesh/C536496|https://omim.org/entry/273390	gard_rare
MONDO:0009138	biolink:Disease	dysosteosclerosis	Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.	SCTID:254123002|UMLS:C0432262|ICD9:756.9|GARD:0002012|Orphanet:1782|MESH:C562973|OMIM:224300	mondo.json	dysosteosclerosis	http://purl.obolibrary.org/obo/MONDO_0009138	http://identifiers.org/snomedct/254123002|https://omim.org/entry/224300|Orphanet:1782|UMLS:C0432262|http://identifiers.org/mesh/C562973	ordo_malformation_syndrome|gard_rare
MONDO:0012768	biolink:Disease	prostate cancer, hereditary, 11		OMIM:611955|MESH:C567449|UMLS:C2677773	mondo.json	HPC11|prostate cancer, hereditary, 11	http://purl.obolibrary.org/obo/MONDO_0012768	UMLS:C2677773|http://identifiers.org/mesh/C567449|https://omim.org/entry/611955	
OBI:0000312	biolink:NamedThing	is_specified_output_of	A relation between a planned process and a continuant participating in that process. The presence of the continuant at the end of the process is explicitly specified in the objective specification which the process realizes the concretization of.		mondo.json		http://purl.obolibrary.org/obo/OBI_0000312		
MONDO:0012769	biolink:Disease	prostate cancer, hereditary, 14		OMIM:611958|MESH:C567448|UMLS:C2677772	mondo.json	prostate cancer, hereditary, 14|HPC14	http://purl.obolibrary.org/obo/MONDO_0012769	https://omim.org/entry/611958|UMLS:C2677772|http://identifiers.org/mesh/C567448	
MONDO:0010108	biolink:Disease	testicular germ cell tumor	A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.	SCTID:713577007|OMIM:273300|NCIT:C8591|GARD:0013047|ICD9:239.5|MESH:C563236|UMLS:C0014145|Orphanet:363504|Orphanet:876|EFO:1000566|UMLS:C1336708|DOID:5557	mondo.json	testicular germ cell tumor|testicular germ cell neoplasms|testicular germ cell neoplasm|testicular tumor, somatic|spermatocytic seminoma, somatic|testicular germ cell cancer|male germ cell tumor, somatic|testis germ cell tumor|teratoma, testicular|germ cell neoplasm of testis|embryonal cell carcinoma|germ cell neoplasm of the testis|Male germ cell tumor|germ cell tumor of testis|germ cell tumors, somatic|spermatocytic seminoma|seminoma|nonseminomatous germ cell tumors|TGCT|germ cell tumor of the testis|endodermal sinus tumor	http://purl.obolibrary.org/obo/MONDO_0010108	NCIT:C8591|http://identifiers.org/mesh/C563236|http://identifiers.org/snomedct/713577007|UMLS:C1336708|https://omim.org/entry/273300|Orphanet:363504|DOID:5557	ordo_group_of_disorders|disease_grouping
MONDO:0009137	biolink:Disease	dysmyelination with jaundice		OMIM:224250|UMLS:C1857143|MESH:C565610	mondo.json	dysmyelination with jaundice	http://purl.obolibrary.org/obo/MONDO_0009137	https://omim.org/entry/224250|http://identifiers.org/mesh/C565610|UMLS:C1857143	
HP:0001977	biolink:PhenotypicFeature	Abnormal thrombosis	Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).	UMLS:C4025731	mondo.json	Abnormal blood clotting|Abnormal blood clot	http://purl.obolibrary.org/obo/HP_0001977		
MONDO:0009136	biolink:Disease	dyskeratosis congenita, autosomal recessive 1	A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14.	OMIM:224230|GARD:0006300|SCTID:707272006|MESH:C565611|DOID:0070015|UMLS:C1857144	mondo.json	autosomal recessive dyskeratosis congenita 1|DKCB|dyskeratosis congenita, autosomal recessive type 1|dyskeratosis congenita, autosomal recessive 1|DKCB1|dyskeratosis congenita autosomal recessive|autosomal recessive dyskeratosis congenita	http://purl.obolibrary.org/obo/MONDO_0009136	https://omim.org/entry/224230|http://identifiers.org/mesh/C565611|DOID:0070015|UMLS:C1857144|http://identifiers.org/snomedct/707272006	prototype_pattern|gard_rare
MONDO:0009135	biolink:Disease	anemia, congenital dyserythropoietic, type 1a		OMIM:224120|DOID:0111398	mondo.json	anemia, congenital dyserythropoietic, type Ia|anemia, congenital dyserythropoietic, type 1a|dyserythropoietic Anemia, congenital, type Ia|CDA Ia|CDAN1A|anemia, congenital dyserythropoietic, type 1	http://purl.obolibrary.org/obo/MONDO_0009135	DOID:0111398|https://omim.org/entry/224120	
MONDO:0009134	biolink:Disease	congenital dyserythropoietic anemia type 2	Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.	SCTID:68870007|GARD:0002001|DOID:0111401|Orphanet:98873|ICD9:285.8|OMIM:224100	mondo.json	dyserythropoietic anemia, congenital, type II|anemia, dyserythropoietic, congenital type 2|anemia, congenital dyserythropoietic, type II|CDA type 2|CDAN2|Cda 2|dyserythropoietic Anemia, congenital, type 2|SEC23B-CDG|congenital dyserythropoietic anemia type 2|hempas anemia|CDA type II|hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)|dyserythropoietic Anemia, hempas type|anemia, congenital dyserythropoietic, type 2|hereditary erythroblastic multinuclearity with Positive acidified-serum test|CDA II	http://purl.obolibrary.org/obo/MONDO_0009134	Orphanet:98873|DOID:0111401|http://identifiers.org/snomedct/68870007|https://omim.org/entry/224100	ordo_disease
HGNC:23791	biolink:NamedThing	INF2			mondo.json		http://identifiers.org/hgnc/23791		
MONDO:0009133	biolink:Disease	cerebellar ataxia, intellectual disability, and dysequilibrium	A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.	MESH:C535731|MedDRA:10013140|OMIMPS:224050|GARD:0001998|Orphanet:1766|DOID:0050997|SCTID:230782004|NCIT:C114781	mondo.json	dialysis dysequilibrium syndrome|CAMRQ syndrome|cerebellar disorder, nonprogressive, with mental retardation|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar hypoplasia, VLDLR associated|VLDLRCH|cerebellar ataxia, mental retardation, and dysequilibrium|cerebellar ataxia, mental retardation and dysequlibrium syndrome|dysequilibrium syndrome|cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|DES|CAMRQ	http://purl.obolibrary.org/obo/MONDO_0009133	DOID:0050997|http://identifiers.org/mesh/C535731|NCIT:C114781|http://identifiers.org/snomedct/230782004|https://omim.org/phenotypicSeries/PS224050|Orphanet:1766	gard_rare|ordo_disease|prototype_pattern
MONDO:0009132	biolink:Disease	dysautonomia-like disorder		OMIM:224000|MESH:C535728|GARD:0009475|UMLS:C1857153	mondo.json	dysautonomia like disorder|dysautonomia-like disorder	http://purl.obolibrary.org/obo/MONDO_0009132	http://identifiers.org/mesh/C535728|UMLS:C1857153|https://omim.org/entry/224000	gard_rare
MONDO:0010110	biolink:Disease	tetraamelia-multiple malformations syndrome	Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	UMLS:C2931218|Orphanet:3301|MESH:C536500|SCTID:716249009|GARD:0000386	mondo.json	TETRAAMELIA syndrome, autosomal recessive|Zimmer Taub Sova syndrome|TETAMS|Zimmer phocomelia|Tetraamelia multiple malformations X-linked	http://purl.obolibrary.org/obo/MONDO_0010110	UMLS:C2931218|Orphanet:3301|http://identifiers.org/mesh/C536500|http://identifiers.org/snomedct/716249009	ordo_malformation_syndrome
MONDO:0012773	biolink:Disease	Hunter-Macdonald syndrome		OMIM:611962|MESH:C567445|UMLS:C2677745	mondo.json	Hunter-Macdonald syndrome	http://purl.obolibrary.org/obo/MONDO_0012773	http://identifiers.org/mesh/C567445|UMLS:C2677745|https://omim.org/entry/611962	
MONDO:0012774	biolink:Disease	chromosome 15q13.3 microdeletion syndrome	15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.	DOID:0060394|OMIM:612001|DECIPHER:74|MESH:C567439|SCTID:699254009|GARD:0010296|Orphanet:199318	mondo.json	chromosome 15q13.3 deletion syndrome|Del(15)(q13.3)|microdeletion 15q13.3 syndrome|monosomy 15q13.3|chromosome 15q13.3 microdeletion syndrome|15q13.3 microdeletion|15q13.3 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0012774	https://omim.org/entry/612001|http://identifiers.org/mesh/C567439|http://identifiers.org/snomedct/699254009|Orphanet:199318|DOID:0060394	ordo_malformation_syndrome
MONDO:0009131	biolink:Disease	Riley-Day syndrome	A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.	DOID:11589|MedDRA:10039179|OMIM:223900|NCIT:C84706|GARD:0007581|Orphanet:1764|MESH:D004402|SCTID:29159009|UMLS:C0013364	mondo.json	neuropathy, hereditary sensory and autonomic, type III|HSN 3|hereditary sensory and autonomic neuropathy 3|familial autonomic nervous dysfunction|HSAN III|dysautonomia, familial|hereditary sensory and autonomic neuropathy type 3|HSAN3|neuropathy, hereditary sensory and autonomic, type 3|HSAN 3|Riley-Day syndrome|Riley Day syndrome|hereditary sensory and autonomic neuropathy type III|hereditary sensory neuropathy type 3|familial dysautonomia	http://purl.obolibrary.org/obo/MONDO_0009131	https://omim.org/entry/223900|DOID:11589|http://identifiers.org/mesh/D004402|NCIT:C84706|UMLS:C0013364|Orphanet:1764|http://identifiers.org/snomedct/29159009	ordo_disease
MONDO:0009130	biolink:Disease	Dyggve-Melchior-Clausen disease	Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias.	SCTID:82699004|NCIT:C124844|DOID:0111167|GARD:0006295|UMLS:C0265286|Orphanet:239|OMIM:223800	mondo.json	DMC disease|DMC syndrome|DMC|Dyggve-Melchior-Clausen disease|Dyggve-Melchior-Clausen syndrome|pseudo-Morquio disease type I	http://purl.obolibrary.org/obo/MONDO_0009130	http://identifiers.org/snomedct/82699004|https://omim.org/entry/223800|NCIT:C124844|Orphanet:239|UMLS:C0265286|DOID:0111167	ordo_disease
MONDO:0012771	biolink:Disease	asthma-related traits, susceptibility to, 7	Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the CHI3L1 gene.	OMIM:611960	mondo.json	CHI3L1 inherited susceptibility to asthma|asthma-related traits, susceptibility to, type 7|inherited susceptibility to asthma caused by mutation in CHI3L1|asthma-RELATED traits, susceptibility to, 7|asthma-related traits, susceptibility to, 7|ASRT7	http://purl.obolibrary.org/obo/MONDO_0012771	https://omim.org/entry/611960	predisposition
MONDO:0010112	biolink:Disease	thalamic degeneration, symmetric infantile		UMLS:C2931220|Orphanet:3311|GARD:0005160|MESH:C536504|OMIM:273490	mondo.json	thalamic degeneration, symmetric infantile|symmetrical thalamic degeneration in infants|symmetric infantile thalamic degeneration	http://purl.obolibrary.org/obo/MONDO_0010112	UMLS:C2931220|https://omim.org/entry/273490|http://identifiers.org/mesh/C536504	gard_rare
MONDO:0010111	biolink:Disease	odontotrichomelic syndrome	Odontotrichomelic syndrome is characterised by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive.	OMIM:273400|GARD:0002381|Orphanet:2723|MESH:C535637|SCTID:239028001|UMLS:CN074199|UMLS:C2930960	mondo.json	tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities|Freire-Maia odontotrichomelic syndrome|odontotrichomelic syndrome|Freire-Maia syndrome|odontotrichomelic hypohidrotic dysplasia	http://purl.obolibrary.org/obo/MONDO_0010111	UMLS:C2930960|https://omim.org/entry/273400|UMLS:CN074199|http://identifiers.org/snomedct/239028001|Orphanet:2723|http://identifiers.org/mesh/C535637	ordo_malformation_syndrome|gard_rare
MONDO:0012772	biolink:Disease	Stevenson-Carey syndrome		OMIM:611961|MESH:C567446|UMLS:C2677763	mondo.json	Stevenson-Carey syndrome	http://purl.obolibrary.org/obo/MONDO_0012772	https://omim.org/entry/611961|http://identifiers.org/mesh/C567446|UMLS:C2677763	
HP:0001974	biolink:PhenotypicFeature	Leukocytosis	An abnormal increase in the number of leukocytes in the blood.	MSH:D007964|UMLS:C0023518|SNOMEDCT_US:111583006	mondo.json	Increased blood leukocyte number|High white blood count|Elevated white blood count	http://purl.obolibrary.org/obo/HP_0001974		
MONDO:0010114	biolink:Disease	thanatophoric dysplasia, Glasgow variant		UMLS:C1848865|MESH:C536506|Orphanet:93275|OMIM:273680	mondo.json	neonatally lethal short-limb skeletal dysplasia, Glasgow type|thanatophoric dysplasia, Glasgow variant	http://purl.obolibrary.org/obo/MONDO_0010114	UMLS:C1848865|https://omim.org/entry/273680|http://identifiers.org/mesh/C536506	
MONDO:0012777	biolink:Disease	celiac disease, susceptibility to, 8		OMIM:612006	mondo.json	celiac disease, susceptibility to, 8|CELIAC8|gluten-sensitive enteropathy, susceptibility to, 8	http://purl.obolibrary.org/obo/MONDO_0012777	https://omim.org/entry/612006	predisposition
MONDO:0010113	biolink:Disease	obsolete thalidomide susceptibility		OMIM:273600	mondo.json	thalidomide susceptibility	http://purl.obolibrary.org/obo/MONDO_0010113	https://omim.org/entry/273600	
MONDO:0012778	biolink:Disease	celiac disease, susceptibility to, 9		OMIM:612007	mondo.json	celiac disease, susceptibility to, 9|CELIAC9|gluten-sensitive enteropathy, susceptibility to, 9	http://purl.obolibrary.org/obo/MONDO_0012778	https://omim.org/entry/612007	predisposition
MONDO:0012775	biolink:Disease	thrombocytopenia 4	Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene.	UMLS:C2677608|MESH:C567438|OMIM:612004	mondo.json	thrombocytopenia, autosomal dominant, 4|thrombocytopenia caused by mutation in CYCS|thrombocytopenia type 4|thrombocytopenia 4|CYCS thrombocytopenia|THC4	http://purl.obolibrary.org/obo/MONDO_0012775	https://omim.org/entry/612004|http://identifiers.org/mesh/C567438|UMLS:C2677608	
MONDO:0010116	biolink:Disease	thoracomelic dysplasia		Orphanet:1803|UMLS:C1848863|OMIM:273740|GARD:0010612|MESH:C564773	mondo.json	'thoraco-limb' dysplasia|thoracolimb dysplasia, Rivera type|Rivera-Perez-Salas syndrome|thoraco-limb dysplasia|thoracomelic dysplasia	http://purl.obolibrary.org/obo/MONDO_0010116	http://identifiers.org/mesh/C564773|UMLS:C1848863|https://omim.org/entry/273740|Orphanet:1803	ordo_disease
HP:0001972	biolink:PhenotypicFeature	Macrocytic anemia	A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).	UMLS:C0002886|MSH:D000748|SNOMEDCT_US:83414005	mondo.json	Macrocytic anaemia	http://purl.obolibrary.org/obo/HP_0001972		
MONDO:0010115	biolink:Disease	thoracic dysplasia-hydrocephalus syndrome		OMIM:273730|UMLS:C1848864|Orphanet:1861|MESH:C564774|GARD:0005180	mondo.json	thoracic dysplasia-hydrocephalus syndrome|thoracic dysplasia hydrocephalus syndrome	http://purl.obolibrary.org/obo/MONDO_0010115	http://identifiers.org/mesh/C564774|UMLS:C1848864|https://omim.org/entry/273730|Orphanet:1861	ordo_malformation_syndrome|gard_rare
MONDO:0012776	biolink:Disease	celiac disease, susceptibility to, 7		OMIM:612005	mondo.json	celiac disease, susceptibility to, 7|CELIAC7|gluten-sensitive enteropathy, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0012776	https://omim.org/entry/612005	predisposition
MONDO:0034106	biolink:Disease	developmental and epileptic encephalopathy, 73		OMIM:618379|Orphanet:544503	mondo.json	DEE73|rnf13-related severe early-onset epileptic encephalopathy|developmental and epileptic encephalopathy 73|epileptic encephalopathy, early infantile, 73	http://purl.obolibrary.org/obo/MONDO_0034106	https://omim.org/entry/618379|Orphanet:544503	ordo_disease
MONDO:0034104	biolink:Disease	obsolete global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0034104		
MONDO:0034103	biolink:Disease	infection-related hemolytic uremic syndrome		Orphanet:544482	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034103	Orphanet:544482	ordo_disease
MONDO:0012770	biolink:Disease	prostate cancer, hereditary, 15		MESH:C567447|UMLS:C2677771|OMIM:611959	mondo.json	HPC15|prostate cancer, hereditary, 15	http://purl.obolibrary.org/obo/MONDO_0012770	https://omim.org/entry/611959|UMLS:C2677771|http://identifiers.org/mesh/C567447	
MONDO:0000773	biolink:Disease	obsolete Timothy grass allergy	OBSOLETE. A allergy involving a Phleum pratense.	DOID:0060498	mondo.json	Phleum pratense caused allergic disease|allergy of Phleum pratense|Phleum pratense allergic disease	http://purl.obolibrary.org/obo/MONDO_0000773	DOID:0060498	
MONDO:0000772	biolink:Disease	obsolete pollen allergy	OBSOLETE. A allergy involving pollen.	DOID:0060497	mondo.json	pollen allergic disease|allergy of pollen	http://purl.obolibrary.org/obo/MONDO_0000772	DOID:0060497	
MONDO:0000771	biolink:Disease	allergic respiratory disease	A respiratory system disease with a basis in a pathological type I hypersensitivity reaction.	DOID:0060496	mondo.json	respiratory allergy|airway allergy|allergic form of respiratory system disease|allergic respiratory system disease	http://purl.obolibrary.org/obo/MONDO_0000771	DOID:0060496	
MONDO:0000770	biolink:Disease	shellfish allergy	Allergic reaction to shellfish or shellfish products.	UMLS:C0577625|SCTID:300913006|MESH:D000067208|DOID:0060495	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000770	http://identifiers.org/snomedct/300913006|http://identifiers.org/mesh/D000067208|DOID:0060495|UMLS:C0577625	
GO:0099111	biolink:NamedThing	microtubule-based transport	A microtubule-based process that results in the transport of organelles, other microtubules, or other cellular components.  Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules.		mondo.json		http://purl.obolibrary.org/obo/GO_0099111		
MONDO:0000777	biolink:Disease	gastrointestinal allergy	A allergic disease that involves the digestive tract.	DOID:0060502	mondo.json	digestive tract allergic disease|allergic disease of digestive tract	http://purl.obolibrary.org/obo/MONDO_0000777	DOID:0060502	
MONDO:0024744	biolink:Disease	childhood choroid plexus neoplasm	A neoplasm that arises from the choroid plexus in the brain and occurs during childhood.	NCIT:C42080	mondo.json	pediatric choroid plexus neoplasm|childhood choroid plexus neoplasm|choroid plexus neoplasm|choroid plexus neoplasm of childhood	http://purl.obolibrary.org/obo/MONDO_0024744	NCIT:C42080	
MONDO:0000776	biolink:Disease	obsolete metal allergy	OBSOLETE. A allergy involving a metal allergen.	SCTID:300915004|UMLS:C0577627|ICD9:995.3|DOID:0060501	mondo.json	metal allergen allergic disease|allergy of metal allergen	http://purl.obolibrary.org/obo/MONDO_0000776	UMLS:C0577627|DOID:0060501|http://identifiers.org/snomedct/300915004	
MONDO:0000775	biolink:Disease	drug allergy	Immunologically mediated adverse reactions to medicinal substances used legally or illegally.	DOID:0060500|MESH:D004342	mondo.json	exposure to drug allergic disease|allergy of exposure to drug	http://purl.obolibrary.org/obo/MONDO_0000775	DOID:0060500|http://identifiers.org/mesh/D004342	
MONDO:0009109	biolink:Disease	lysinuric protein intolerance	Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.	DOID:0060439|Orphanet:470|GARD:0001853|NCIT:C121563|OMIM:222700|ICD9:270.8|SCTID:303852004|UMLS:C0268647|MESH:C562687|GARD:0003335|MedDRA:10058300	mondo.json	hyperdibasic aminoaciduria type 2|LPI|hyperdibasic aminoaciduria|dibasic aminoaciduria 2|dibasic amino aciduria 2|lysinuric PROTEIN intolerance|Dibasicamino aciduria II|lysinuric protein intolerance|dibasic amino aciduria II	http://purl.obolibrary.org/obo/MONDO_0009109	UMLS:C0268647|NCIT:C121563|http://identifiers.org/snomedct/303852004|Orphanet:470|DOID:0060439|https://omim.org/entry/222700|http://identifiers.org/mesh/C562687	gard_rare|ordo_disease
MONDO:0034109	biolink:Disease	congenital myopathy with reduced type 2 muscle fibers		OMIM:618414|Orphanet:544602	mondo.json	myopathy, congenital, with fast-twitch (type II) fiber atrophy	http://purl.obolibrary.org/obo/MONDO_0034109	https://omim.org/entry/618414|Orphanet:544602	ordo_disease
MONDO:0024746	biolink:Disease	immature teratoma	A teratoma composed of immature, fetal-type tissues.	ICDO:9080/3|NCIT:C4286	mondo.json	hrade 2 Teratoma|embryonal teratoma|immature teratoma	http://purl.obolibrary.org/obo/MONDO_0024746	NCIT:C4286	
MONDO:0009108	biolink:Disease	hyperdibasic aminoaciduria type 1	Hyperdibasic aminoaciduria, type 1 is characterised by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported.	Orphanet:1032|GARD:0001854|OMIM:222690|UMLS:C2673736|MESH:C567132	mondo.json	dibasic amino aciduria 1|dibasic amino aciduria type 1|dibasic aminoaciduria 1|dibasic amino aciduria I	http://purl.obolibrary.org/obo/MONDO_0009108	http://identifiers.org/mesh/C567132|UMLS:C2673736|https://omim.org/entry/222690	gard_rare|ordo_disease
MONDO:0000774	biolink:Disease	autoimmune neuropathy	An autoimmune form of peripheral neuropathy.	DOID:0040087|DOID:0060499	mondo.json	autoimmune peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0000774	DOID:0060499|DOID:0040087	
MONDO:0009107	biolink:Disease	diastrophic dysplasia	Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).	GARD:0006275|ICD10CM:Q77.5|OMIM:222600|MESH:C536170|DOID:14687|SCTID:58561002|ICD9:756.89|Orphanet:628	mondo.json	DTD|DD|diastrophic dysplasia|diastrophic dwarfism|diastrophic dysplasia, Broad bone-Platyspondylic variant	http://purl.obolibrary.org/obo/MONDO_0009107	http://purl.bioontology.org/ontology/ICD10CM/Q77.5|http://identifiers.org/mesh/C536170|DOID:14687|Orphanet:628|https://omim.org/entry/222600|http://identifiers.org/snomedct/58561002	ordo_disease
MONDO:0012759	biolink:Disease	camptodactyly syndrome, Guadalajara type 3	Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.	Orphanet:488434|GARD:0010573|MESH:C567455|UMLS:C2677809|OMIM:611929	mondo.json	camptodactyly syndrome, Guadalajara, type 3|camptodactyly syndrome Guadalajara type 3|camptodactyly syndrome, Guadalajara, type III	http://purl.obolibrary.org/obo/MONDO_0012759	Orphanet:488434|https://omim.org/entry/611929|http://identifiers.org/mesh/C567455|UMLS:C2677809	ordo_malformation_syndrome
HP:0001945	biolink:PhenotypicFeature	Fever	Body temperature elevated above the normal range.	SNOMEDCT_US:386661006|UMLS:C0015967|MSH:D005334|SNOMEDCT_US:50177009	mondo.json	Pyrexia|Fever|Hyperthermia	http://purl.obolibrary.org/obo/HP_0001945		
MONDO:0009106	biolink:Disease	diastematomyelia	A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida.	OMIM:222500|SCTID:49351009|ICD9:742.51|UMLS:C0011999|Orphanet:1671|GARD:0001851|MedDRA:10012750|NCIT:C98913|ICD10CM:Q06.2	mondo.json	SSCM|Pseudodiplomyelia|diplomyelia|SCM type 1|split cord malformation|diastematomyelia|Dimyelia|split spinal cord malformation|split cord malformation type 1	http://purl.obolibrary.org/obo/MONDO_0009106	Orphanet:1671|UMLS:C0011999|http://identifiers.org/snomedct/49351009|https://omim.org/entry/222500|NCIT:C98913|http://purl.bioontology.org/ontology/ICD10CM/Q06.2	ordo_morphological_anomaly
MONDO:0012757	biolink:Disease	lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome	Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.	Orphanet:137631|OMIM:611926|UMLS:C3150156|SCTID:721977007	mondo.json	immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis	http://purl.obolibrary.org/obo/MONDO_0012757	http://identifiers.org/snomedct/721977007|Orphanet:137631|https://omim.org/entry/611926|UMLS:C3150156	ordo_disease
MONDO:0009105	biolink:Disease	trichohepatoenteric syndrome	A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.	SCTID:703406006|UMLS:C1857276|DOID:0111414|GARD:0005258|OMIMPS:222470|Orphanet:84064	mondo.json	THES1|phenotypic diarrhea|Syndromatic diarrhea|syndromic diarrhea/Tricho-hepato-enteric syndrome|Trichohepatoenteric syndrome|Tricho-hepato-enteric syndrome|syndromic diarrhea|SD/THE|Trichohepatoenteric syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0009105	http://identifiers.org/snomedct/703406006|UMLS:C1857276|Orphanet:84064|DOID:0111414|https://omim.org/phenotypicSeries/PS222470	ordo_disease
HP:0001943	biolink:PhenotypicFeature	Hypoglycemia	A decreased concentration of glucose in the blood.	UMLS:C0020615|SNOMEDCT_US:237630007|SNOMEDCT_US:302866003|MSH:D007003|SNOMEDCT_US:271327008	mondo.json	Hypoglycaemia|Low blood sugar	http://purl.obolibrary.org/obo/HP_0001943		
MONDO:0012758	biolink:Disease	prostate cancer, hereditary, 13	Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene.	MESH:C567456|OMIM:611928|UMLS:C2677821	mondo.json	HPC13|MSMB familial prostate cancer|prostate cancer, hereditary, 13|familial prostate cancer caused by mutation in MSMB|prostate cancer, hereditary, type 13	http://purl.obolibrary.org/obo/MONDO_0012758	http://identifiers.org/mesh/C567456|https://omim.org/entry/611928|UMLS:C2677821	
MONDO:0009104	biolink:Disease	Donnai-Barrow syndrome	Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.	ICD9:759.89|GARD:0001899|GARD:1899|UMLS:C1857277|DOID:0090144|Orphanet:2143|OMIM:222448|SCTID:702418009|MESH:C536390	mondo.json	facio-oculo-acoustico-renal syndrome|diaphragmatic hernia-exomphalos-hypertelorism syndrome|Donnai-Barrow syndrome|Holmes-Schepens syndrome|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria|syndrome of ocular and facial anomalies, telecanthus and deafness|faciooculoacousticorenal syndrome|DBS/FOAR syndrome|diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria|diaphragmatic hernia-hypertelorism-myopia-deafness syndrome|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria|FOAR syndrome	http://purl.obolibrary.org/obo/MONDO_0009104	http://identifiers.org/snomedct/702418009|Orphanet:2143|UMLS:C1857277|http://identifiers.org/mesh/C536390|DOID:0090144|https://omim.org/entry/222448	ordo_malformation_syndrome|gard_rare
HP:0001944	biolink:PhenotypicFeature	Dehydration		SNOMEDCT_US:34095006|MSH:D003681|UMLS:C0011175	mondo.json	Dehydration|Exsiccosis	http://purl.obolibrary.org/obo/HP_0001944		
MONDO:0009103	biolink:Disease	diaphragmatic hernia 2		OMIM:222400|MESH:C565629	mondo.json	hernia, congenital diaphragmatic 2|diaphragmatic hernia 2|DIH2	http://purl.obolibrary.org/obo/MONDO_0009103	http://identifiers.org/mesh/C565629|https://omim.org/entry/222400	
MONDO:0009102	biolink:Disease	diaminopentanuria		UMLS:C1857285|MESH:C565630|OMIM:222350	mondo.json	Diaminopentanuria|cystine-lysinuria	http://purl.obolibrary.org/obo/MONDO_0009102	UMLS:C1857285|http://identifiers.org/mesh/C565630|https://omim.org/entry/222350	
MONDO:0009101	biolink:Disease	Wolfram syndrome 1	Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene.	DOID:0110629|OMIM:222300	mondo.json	Wolfram syndrome caused by mutation in WFS1|diabetes insipidus and mellitus with optic atrophy and deafness|WFS1|WOLFRAM syndrome 1|Wolfram syndrome 1|Wfs|Wolfram syndrome type 1|WFS1 Wolfram syndrome	http://purl.obolibrary.org/obo/MONDO_0009101	DOID:0110629|https://omim.org/entry/222300	
MONDO:0009100	biolink:Disease	type 1 diabetes mellitus 1	Any type 1 diabetes mellitus that is caused by variation in genes located in the MHC complex on chromosome 6p21.3.	OMIM:222100	mondo.json	juvenile-onset diabetes|diabetes mellitus, insulin-dependent-1|IDDM1|diabetes mellitus, insulin-dependent, 1|diabetes mellitus, type 1|type 1 diabetes mellitus|IDDM|insulin-dependent diabetes mellitus 1|diabetes, type 1, susceptibility to|diabetes mellitus, insulin-dependent	http://purl.obolibrary.org/obo/MONDO_0009100		
MONDO:0012762	biolink:Disease	catecholaminergic polymorphic ventricular tachycardia 2	Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene.	NCIT:C148368|DOID:0060676|OMIM:611938|ICD10CM:I47.2|UMLS:C2677794	mondo.json	ventricular tachycardia, catecholaminergic polymorphic, type 2|CPVT2|ventricular tachycardia, stress-induced polymorphic|CASQ2 catecholaminergic polymorphic ventricular tachycardia|catecholaminergic polymorphic ventricular tachycardia 2|catecholaminergic polymorphic ventricular tachycardia caused by mutation in CASQ2|ventricular tachycardia, catecholaminergic polymorphic, 2|catecholaminergic polymorphic ventricular tachycardia type 2|CVPT2	http://purl.obolibrary.org/obo/MONDO_0012762	DOID:0060676|NCIT:C148368|https://omim.org/entry/611938|UMLS:C2677794	
MONDO:0034110	biolink:Disease	atypical Fanconi syndrome-neonatal hyperinsulinism syndrome		Orphanet:544628	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034110	Orphanet:544628	ordo_disease
HGNC:11786	biolink:NamedThing	THBS2			mondo.json		http://identifiers.org/hgnc/11786		
MONDO:0012763	biolink:Disease	epilepsy, childhood absence, susceptibility to, 6	An inherited susceptibility or predisposition to developing child absence epilepsy or idiopathic generalized epilepsy, in which the cause of the disease is a mutation in the CACNA1H gene.	OMIM:611942	mondo.json	epilepsy, childhood absence, susceptibility to, 6|epilepsy, idiopathic generalized, susceptibility to, 6|epilepsy, childhood absence, susceptibility to, type 6|susceptibility to childhood absence epilepsy 6|ECA6|CACNA1H childhood absence epilepsy|childhood absence epilepsy caused by mutation in CACNA1H	http://purl.obolibrary.org/obo/MONDO_0012763	https://omim.org/entry/611942	predisposition
MONDO:0010101	biolink:Disease	Teebi-Shaltout syndrome	Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.	MESH:C536950|UMLS:C1848912|GARD:0005125|OMIM:272950|Orphanet:3291	mondo.json	craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage|Teebi-Shaltout syndrome|TBSH|Teebi Shaltout syndrome	http://purl.obolibrary.org/obo/MONDO_0010101	UMLS:C1848912|Orphanet:3291|https://omim.org/entry/272950|http://identifiers.org/mesh/C536950	ordo_malformation_syndrome|gard_rare
MONDO:0012760	biolink:Disease	epilepsy, idiopathic generalized, susceptibility to, 5		DOID:0111320|OMIM:611934	mondo.json	EIG5|epilepsy, idiopathic generalized, susceptibility to, 5|epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10	http://purl.obolibrary.org/obo/MONDO_0012760	https://omim.org/entry/611934|DOID:0111320	predisposition
HGNC:11784	biolink:NamedThing	THBD			mondo.json		http://identifiers.org/hgnc/11784		
MONDO:0010100	biolink:Disease	Tay-Sachs disease	GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency.	DOID:3320|UMLS:C0039373|NCIT:C85184|MedDRA:10043147|SCTID:111385000|MESH:D013661|GARD:0007737|ICD10CM:E75.02|OMIM:272800|Orphanet:845	mondo.json	hexosaminidase a deficiency|TSD|Tay-Sachs disease, juvenile|hexosaminidase A deficiency|GM2-gangliosidosis, type 1|GM2 gangliosidosis, type 1|Hex A pseudodeficiency|GM2-gangliosidosis, variant B1|GM2-gangliosidosis, adult chronic type|TAY-Sachs disease|GM2-gangliosidosis, several forms|Tay-Sachs disease|Tay-Sachs disease, variant B1|B variant GM2 gangliosidosis|GM2 gangliosidosis, B, B1 variant|B variant GM2-gangliosidosis|Tay-Sachs disease, pseudo-Ab variant|disease, Tay-Sachs|gangliosidosis GM2, type 1|hexosaminidase a deficiency, adult type|sphingolipidosis, Tay-Sachs|hexosaminidase alpha-subunit deficiency (variant B)|hexa deficiency	http://purl.obolibrary.org/obo/MONDO_0010100	NCIT:C85184|http://identifiers.org/snomedct/111385000|http://purl.bioontology.org/ontology/ICD10CM/E75.02|UMLS:C0039373|https://omim.org/entry/272800|http://identifiers.org/mesh/D013661|DOID:3320|Orphanet:845	ordo_disease|gard_rare
MONDO:0012761	biolink:Disease	chromosome 3q29 microduplication syndrome	3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly.	GARD:0010360|DECIPHER:77|DOID:0060459|Orphanet:251038|OMIM:611936|MESH:C567626|UMLS:C2749873|SCTID:717973004	mondo.json	chromosome 3q29 DUPLICATION syndrome|microduplication 3Q29 syndrome|3q29 microduplication|trisomy 3q29|3q29 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0012761	http://identifiers.org/snomedct/717973004|http://identifiers.org/mesh/C567626|https://omim.org/entry/611936|UMLS:C2749873|Orphanet:251038|DOID:0060459	gard_rare|ordo_malformation_syndrome
HP:0001941	biolink:PhenotypicFeature	Acidosis	Abnormal acid accumulation or depletion of base.	MSH:D000138|SNOMEDCT_US:51387008|UMLS:C0001122	mondo.json		http://purl.obolibrary.org/obo/HP_0001941		
MONDO:0012766	biolink:Disease	hereditary spastic paraplegia 37	Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.	DOID:0110788|OMIM:611945|UMLS:C2936880|SCTID:763369007|MESH:C567931|Orphanet:171612	mondo.json	autosomal dominant spastic paraplegia type 37|hereditary spastic paraplegia type 37|SPG37|spastic paraplegia 37, autosomal dominant|autosomal dominant spastic paraplegia 37	http://purl.obolibrary.org/obo/MONDO_0012766	DOID:0110788|http://identifiers.org/snomedct/763369007|Orphanet:171612|https://omim.org/entry/611945|UMLS:C2936880|http://identifiers.org/mesh/C567931	ordo_disease
MONDO:0010103	biolink:Disease	teeth, fused		MESH:D005671|OMIM:273000|SCTID:1744008	mondo.json	teeth, fused	http://purl.obolibrary.org/obo/MONDO_0010103	http://identifiers.org/mesh/D005671|http://identifiers.org/snomedct/1744008|https://omim.org/entry/273000	
MONDO:0010102	biolink:Disease	taurodontia-absent teeth-sparse hair syndrome	This syndrome is characterised by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families.	UMLS:C1848909|OMIM:272980|MESH:C536945|Orphanet:2731|GARD:0005118	mondo.json	teeth, congenital absence of, with taurodontia and sparse hair|taurodontia, absent teeth, and sparse hair|taurodontia, absent teeth, sparse hair syndrome	http://purl.obolibrary.org/obo/MONDO_0010102	UMLS:C1848909|https://omim.org/entry/272980|http://identifiers.org/mesh/C536945	ordo_malformation_syndrome|gard_rare
HP:0001942	biolink:PhenotypicFeature	Metabolic acidosis	Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.	MSH:D000138|SNOMEDCT_US:59455009|UMLS:C0220981	mondo.json		http://purl.obolibrary.org/obo/HP_0001942		
MONDO:0012767	biolink:Disease	age related macular degeneration 11	Any age-related macular degeneration in which the cause of the disease is a mutation in the CST3 gene.	MESH:C567450|DOID:0110023|UMLS:C2677774|OMIM:611953	mondo.json	ARMD11|age related macular degeneration type 11|macular degeneration, age-related, 11|macular Degeneration, age-related, type 11|CST3 age-related macular degeneration|age-related macular degeneration caused by mutation in CST3	http://purl.obolibrary.org/obo/MONDO_0012767	https://omim.org/entry/611953|UMLS:C2677774|http://identifiers.org/mesh/C567450|DOID:0110023	
MONDO:0012764	biolink:Disease	RIDDLE syndrome	An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29.	MESH:C567453|OMIM:611943|EFO:0009055|Orphanet:420741|DOID:0090113|UMLS:C2677792	mondo.json	radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties|RIDDLE syndrome|radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome|RNF168 deficiency	http://purl.obolibrary.org/obo/MONDO_0012764	Orphanet:420741|https://omim.org/entry/611943|http://identifiers.org/mesh/C567453|UMLS:C2677792|DOID:0090113	ordo_malformation_syndrome
MONDO:0036779	biolink:Disease	axillary neoplasm	A benign or malignant neoplasm that affects the structures of the axilla. Representative examples include axillary lipoma, axillary lymph node lymphoma, and metastatic carcinoma to the axillary lymph nodes.	UMLS:C1290308|SCTID:126639006|NCIT:C35749	mondo.json	axillary neoplasm|neoplasm of axilla|axilla tumor|tumor of axilla|axilla neoplasm	http://purl.obolibrary.org/obo/MONDO_0036779	UMLS:C1290308|NCIT:C35749|http://identifiers.org/snomedct/126639006	
MONDO:0010105	biolink:Disease	teratoma, pineal		MESH:C537401|UMLS:C1848902|OMIM:273120	mondo.json	teratoma, pineal	http://purl.obolibrary.org/obo/MONDO_0010105	UMLS:C1848902|https://omim.org/entry/273120|http://identifiers.org/mesh/C537401	
MONDO:0010104	biolink:Disease	non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome	Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears.	SCTID:723442008|GARD:0005127|GARD:0005027|Orphanet:2972|OMIM:273050|UMLS:C1848903	mondo.json	teeth noneruption of with maxillary hypoplasia and genu valgum|multiple non-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects|Stoelinga de Koomen Davis syndrome|non erupted teeth with maxillary hypoplasia and genu valgum|multiple none-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects|teeth, noneruption of, with maxillary hypoplasia and genu valgum|Stoelinga-de Koomen-Davis syndrome	http://purl.obolibrary.org/obo/MONDO_0010104	UMLS:C1848903|https://omim.org/entry/273050|Orphanet:2972|http://identifiers.org/snomedct/723442008	ordo_malformation_syndrome|gard_rare
MONDO:0012765	biolink:Disease	lymphatic malformation 2		MESH:C567452|UMLS:C2677787|OMIM:611944|DOID:0070211	mondo.json	LMPH1B|lymphedema, hereditary, 1B	http://purl.obolibrary.org/obo/MONDO_0012765	DOID:0070211|https://omim.org/entry/611944|http://identifiers.org/mesh/C567452|UMLS:C2677787	
MONDO:0000769	biolink:Disease	chicken egg allergy	An egg allergy triggered by Gallus gallus eggs.	DOID:0060492	mondo.json	Gallus gallus egg allergy	http://purl.obolibrary.org/obo/MONDO_0000769	DOID:0060492	
MONDO:0000768	biolink:Disease	obsolete Zika fever			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000768		
MONDO:0000767	biolink:Disease	obsolete nut midline carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000767		
HGNC:11782	biolink:NamedThing	TH			mondo.json		http://identifiers.org/hgnc/11782		
HGNC:11781	biolink:NamedThing	TGM5			mondo.json		http://identifiers.org/hgnc/11781		
GO:0099118	biolink:NamedThing	microtubule-based protein transport	A microtubule-based process that results in the transport of proteins.		mondo.json		http://purl.obolibrary.org/obo/GO_0099118		
MONDO:0000784	biolink:Disease	melon allergy	A fruit allergy triggered by Cucumis melo plant fruit food product.	DOID:0060509	mondo.json	Cucumis melo fruit allergy	http://purl.obolibrary.org/obo/MONDO_0000784	DOID:0060509	
MONDO:0000783	biolink:Disease	orange allergy	A fruit allergy triggered by Citrus sinensis plant fruit food product.	DOID:0060508	mondo.json	Citrus sinensis fruit allergy|orange allergy	http://purl.obolibrary.org/obo/MONDO_0000783	DOID:0060508	
MONDO:0000782	biolink:Disease	Indian plum allergy	A fruit allergy triggered by Ziziphus mauritiana plant fruit food product.	DOID:0060507	mondo.json	Ziziphus mauritiana fruit allergy	http://purl.obolibrary.org/obo/MONDO_0000782	DOID:0060507	
GO:0099124	biolink:NamedThing	axonal dopamine secretion	The regulated release of dopamine from an axon.		mondo.json	axonal dopamine release|axonal DA release	http://purl.obolibrary.org/obo/GO_0099124		
MONDO:0000781	biolink:Disease	cherry allergy	A fruit allergy triggered by Prunus avium plant fruit food product.	DOID:0060506	mondo.json	Prunus avium fruit allergy	http://purl.obolibrary.org/obo/MONDO_0000781	DOID:0060506	
MONDO:0000788	biolink:Disease	obsolete fish allergy	OBSOLETE. A allergy involving fish.	DOID:0060513	mondo.json	fish food product allergic disease|allergy of fish food product	http://purl.obolibrary.org/obo/MONDO_0000788	DOID:0060513	
MONDO:0000787	biolink:Disease	obsolete tomato allergy	OBSOLETE. A allergy involving a Solanum lycopersicum.	DOID:0060512	mondo.json	Solanum lycopersicum fruit allergy|Solanum lycopersicum allergic disease|allergy of Solanum lycopersicum|Solanum lycopersicum caused allergic disease	http://purl.obolibrary.org/obo/MONDO_0000787	DOID:0060512	
GO:0099123	biolink:NamedThing	somato-dendritic dopamine secretion	The regulated release of dopamine from the somatodendritic compartment (cell body or dendrites) of a neuron.		mondo.json	STD dopamine release|STD DA release|somatodendritic dopamine release	http://purl.obolibrary.org/obo/GO_0099123		
MONDO:0000786	biolink:Disease	obsolete plum allergy	OBSOLETE. A allergy involving a Prunus domestica.	DOID:0060511	mondo.json	Prunus domestica fruit allergy|Prunus domestica allergic disease|allergy of Prunus domestica|Prunus domestica caused allergic disease	http://purl.obolibrary.org/obo/MONDO_0000786	DOID:0060511	
MONDO:0000785	biolink:Disease	obsolete peach allergy	OBSOLETE. A allergy involving a Prunus persica.	DOID:0060510	mondo.json	Prunus persica fruit allergy|Prunus persica allergic disease|allergy of Prunus persica|Prunus persica caused allergic disease	http://purl.obolibrary.org/obo/MONDO_0000785	DOID:0060510	
MONDO:0009119	biolink:Disease	diverticulosis, small-intestinal		OMIM:223320|MESH:C565620|UMLS:C1857228	mondo.json	diverticulosis, small-intestinal	http://purl.obolibrary.org/obo/MONDO_0009119	UMLS:C1857228|http://identifiers.org/mesh/C565620|https://omim.org/entry/223320	
MONDO:0012748	biolink:Disease	primary ciliary dyskinesia 7	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene.	DOID:0110605|OMIM:611884|UMLS:C2678473|MESH:C567504	mondo.json	ciliary dyskinesia, primary, type 7|DNAH11 primary ciliary dyskinesia|ciliary dyskinesia, primary, 7|primary ciliary dyskinesia type 7|primary ciliary dyskinesia 7|primary ciliary dyskinesia caused by mutation in DNAH11|primary ciliary dyskinesia 7 with or without situs inversus|ciliary dyskinesia, primary, 7, with or without situs inversus|CILD7	http://purl.obolibrary.org/obo/MONDO_0012748	DOID:0110605|UMLS:C2678473|https://omim.org/entry/611884|http://identifiers.org/mesh/C567504	
MONDO:0009118	biolink:Disease	disseminated sclerosis with narcolepsy		OMIM:223300|MESH:C565621|UMLS:C1857229	mondo.json	disseminated sclerosis with narcolepsy	http://purl.obolibrary.org/obo/MONDO_0009118	UMLS:C1857229|http://identifiers.org/mesh/C565621|https://omim.org/entry/223300	
MONDO:0012749	biolink:Disease	mesomelic dysplasia, camera type		UMLS:C2678472|MESH:C567503|OMIM:611886	mondo.json	mesomelic dysplasia, camera type	http://purl.obolibrary.org/obo/MONDO_0012749	UMLS:C2678472|http://identifiers.org/mesh/C567503|https://omim.org/entry/611886	
MONDO:0009117	biolink:Disease	obsolete disorganization, mouse, homolog of		OMIM:223200|UMLS:C1857230	mondo.json	disorganization, mouse, homolog OF|Ds	http://purl.obolibrary.org/obo/MONDO_0009117	UMLS:C1857230|https://omim.org/entry/223200	
CHR:9606-chrXp11.3	biolink:NamedThing	Xp11.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chrXp11.3		
MONDO:0009116	biolink:Disease	obsolete lactose intolerance			mondo.json	obsolete lactose intolerance (disease)	http://purl.obolibrary.org/obo/MONDO_0009116		
MONDO:0012746	biolink:Disease	dilated cardiomyopathy 2A	A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.	UMLS:C2678474|OMIM:611880|DOID:0110460	mondo.json	dilated cardiomyopathy type 2A|cardiomyopathy, dilated, type 2A|cardiomyopathy, dilated, autosomal recessive|cardiomyopathy, dilated, 2A|cardiomyopathy, congestive, autosomal recessive|CMD2A	http://purl.obolibrary.org/obo/MONDO_0012746	DOID:0110460|UMLS:C2678474|https://omim.org/entry/611880	
MONDO:0012747	biolink:Disease	glycogen storage disease due to aldolase A deficiency	Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported.	OMIM:611881|SCTID:111578003|MESH:C562718|Orphanet:57|ICD9:282.3|UMLS:C0272066|GARD:0000600	mondo.json	glycogenosis due to aldolase A deficiency|glycogenosis type XII|GSD12|GSD type 12|aldolase deficiency, Red cell|glycogen storage disease due to aldolase A deficiency|aldolase deficiency red cell|glycogen storage disease type 12|glycogen storage disease type XII|Aldoa deficiency|GSD type XII|Red cell aldolase deficiency|GSD due to aldolase A deficiency|glycogen storage disease 12|aldolase a deficiency|glycogen storage disease XII|GSD 12|glycogenosis type 12	http://purl.obolibrary.org/obo/MONDO_0012747	Orphanet:57|UMLS:C0272066|http://identifiers.org/mesh/C562718|http://identifiers.org/snomedct/111578003|https://omim.org/entry/611881	ordo_disease
MONDO:0009115	biolink:Disease	congenital lactase deficiency	Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.	Orphanet:53690|OMIM:223000|GARD:0012311|DOID:0111646|ICD9:271.3|ICD10CM:E73.0|SCTID:5388008|MESH:C562600	mondo.json	Alactasia, congenital|lactase deficiency, congenital|congenital lactase deficiency|disaccharide intolerance 2	http://purl.obolibrary.org/obo/MONDO_0009115	http://purl.bioontology.org/ontology/ICD10CM/E73.0|http://identifiers.org/snomedct/5388008|https://omim.org/entry/223000|DOID:0111646|Orphanet:53690|http://identifiers.org/mesh/C562600	gard_rare|ordo_disease
MONDO:0000780	biolink:Disease	obsolete apricot allergy	OBSOLETE. A allergy involving a Prunus armeniaca.	DOID:0060505	mondo.json	Prunus armeniaca caused allergic disease|allergy of Prunus armeniaca|Prunus armeniaca fruit allergy|Prunus armeniaca allergic disease	http://purl.obolibrary.org/obo/MONDO_0000780	DOID:0060505	
MONDO:0009114	biolink:Disease	congenital sucrase-isomaltase deficiency	A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterised by malabsorption of sucrose and maltose.	GARD:0006183|MedDRA:10066387|MESH:C538139|ICD9:271.3|DOID:0111633|GARD:0007710|OMIM:222900|SCTID:78373000|Orphanet:35122|UMLS:C1283620|NCIT:C128190	mondo.json	sucrase-alpha-dextrinase deficiency|congenital sucrose intolerance|disaccharide intolerance|SI deficiency|disaccharide intolerance i|congenital sucrase-isomaltase deficiency|congenital sucrose-isomaltase malabsorption|sucrose isomaltose enzyme deficiency|congenital sucrose-isomaltase intolerance|sucrose intolerance, congenital|genetic sucrase-isomaltose malabsorption|disaccharide intolerance, 1|sucrase-isomaltase deficiency|sucrase-isomaltase deficiency, congenital|disaccharide intolerance 1|intestinal sucrase-a-dextrinase deficiency|sucrose-isomaltose malabsorption, congenital|sucrose-isomaltase malabsorption, congenital|sucrose intolerance congenital|invertase deficiency|congenital sucrose malabsorption|CSID|congenital sucrase-isomaltose malabsorption	http://purl.obolibrary.org/obo/MONDO_0009114	NCIT:C128190|DOID:0111633|http://identifiers.org/snomedct/78373000|Orphanet:35122|https://omim.org/entry/222900|http://identifiers.org/mesh/C538139	ordo_disease|gard_rare
MONDO:0009113	biolink:Disease	hemolytic anemia due to diphosphoglycerate mutase deficiency	A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.	GARD:0001874|NCIT:C131638|DOID:0111630|OMIM:222800|UMLS:C1291620|Orphanet:714	mondo.json	bisphosphoglyceromutase deficiency|diphosphoglycerate phosphatase deficiency|bisphosphoglycerate mutase deficiency|diphosphoglycerate mutase deficiency of erythrocyte|erythrocytosis, familial, 8|DPGM deficiency|BPGM deficiency	http://purl.obolibrary.org/obo/MONDO_0009113	Orphanet:714|DOID:0111630|NCIT:C131638|https://omim.org/entry/222800|UMLS:C1291620	ordo_disease
MONDO:0009112	biolink:Disease	rhizomelic chondrodysplasia punctata type 2	Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.	Orphanet:309796|GARD:0009429|DOID:0110852|UMLS:C1857242|OMIM:222765|MESH:C537607	mondo.json	Dihydroxyacetonephosphate acyltransferase deficiency|Glyceronephosphate O-acyltransferase deficiency|chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate|chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency|rhizomelic chondrodysplasia punctata type 2|Gnpat deficiency|peroxisomal dihydroxyacetonephosphate acyltransferase deficiency|rhizomelic chondrodysplasia punctata caused by mutation in GNPAT|Rcdp2|type 2 rhizomelic chondrodysplasia punctata|rhizomelic chondrodysplasia punctata, type 2|Dhapat deficiency|GNPAT rhizomelic chondrodysplasia punctata|RCDP2	http://purl.obolibrary.org/obo/MONDO_0009112	http://identifiers.org/mesh/C537607|DOID:0110852|https://omim.org/entry/222765|Orphanet:309796|UMLS:C1857242	gard_rare|ordo_etiological_subtype
MONDO:0009111	biolink:Disease	dihydropyrimidinuria	Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.	ICD9:277.2|GARD:0012347|OMIM:222748|Orphanet:38874|SCTID:238014002|DOID:0111629	mondo.json	DPYSD|Dpys deficiency|Dph deficiency|dihydropyrimidinuria|dihydropyrimidinase deficiency	http://purl.obolibrary.org/obo/MONDO_0009111	http://identifiers.org/snomedct/238014002|DOID:0111629|Orphanet:38874|https://omim.org/entry/222748	ordo_disease
HP:0001959	biolink:PhenotypicFeature	Polydipsia	Excessive thirst manifested by excessive fluid intake.	MSH:D059606|UMLS:C0085602|SNOMEDCT_US:267026004|SNOMEDCT_US:17173007	mondo.json	Extreme thirst	http://purl.obolibrary.org/obo/HP_0001959		
MONDO:0012751	biolink:Disease	aortic aneurysm, familial abdominal, 3		OMIM:611891|UMLS:C2678470|MESH:C567501	mondo.json	AAA3|aortic aneurysm, familial abdominal, 3|aneurysm, familial abdominal 3	http://purl.obolibrary.org/obo/MONDO_0012751	UMLS:C2678470|https://omim.org/entry/611891|http://identifiers.org/mesh/C567501	
MONDO:0009110	biolink:Disease	dicarboxylic aminoaciduria	Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.	UMLS:C1857253|DOID:0060650|SCTID:716747007|OMIM:222730|MESH:C536171|GARD:0001855|Orphanet:2195	mondo.json	Dicarboxylicaminoaciduria|dicarboxylic aminoaciduria|glutamate-aspartate Transport defect|DCBXA|glutamate-aspartate transport defect	http://purl.obolibrary.org/obo/MONDO_0009110	http://identifiers.org/mesh/C536171|DOID:0060650|https://omim.org/entry/222730|http://identifiers.org/snomedct/716747007|Orphanet:2195|UMLS:C1857253	gard_rare|ordo_disease
MONDO:0034121	biolink:Disease	NAD(P)HX dehydratase deficiency		OMIM:618321|Orphanet:555402	mondo.json	PEBEL2|ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2	http://purl.obolibrary.org/obo/MONDO_0034121	https://omim.org/entry/618321|Orphanet:555402	ordo_disease
HGNC:11796	biolink:NamedThing	THRA			mondo.json		http://identifiers.org/hgnc/11796		
MONDO:0012752	biolink:Disease	aneurysm, intracranial berry, 6		OMIM:611892|MESH:C567500|UMLS:C2678469	mondo.json	ANIB6|aneurysm, intracranial BERRY, 6	http://purl.obolibrary.org/obo/MONDO_0012752	UMLS:C2678469|https://omim.org/entry/611892|http://identifiers.org/mesh/C567500	
HGNC:11795	biolink:NamedThing	THPO			mondo.json		http://identifiers.org/hgnc/11795		
MONDO:0012750	biolink:Disease	lethal arthrogryposis-anterior horn cell disease syndrome		OMIM:611890|Orphanet:53696|SCTID:715565004|UMLS:C2678471|MESH:C567502	mondo.json	LAAHD|congenital arthrogryposis with anterior horn cell disease|Vuopala disease|lethal arthrogryposis with anterior horn cell disease	http://purl.obolibrary.org/obo/MONDO_0012750	Orphanet:53696|http://identifiers.org/snomedct/715565004|UMLS:C2678471|http://identifiers.org/mesh/C567502|https://omim.org/entry/611890	ordo_malformation_syndrome
HP:0001952	biolink:PhenotypicFeature	Glucose intolerance	Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).	UMLS:C0235401	mondo.json	Glucose intolerance|Abnormal glucose tolerance	http://purl.obolibrary.org/obo/HP_0001952		
MONDO:0012755	biolink:Disease	episodic ataxia type 7	Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.	UMLS:C2677843|Orphanet:209970|MESH:C567459|SCTID:718752007|DOID:0050995|OMIM:611907	mondo.json	episodic ataxia, type 7|EA7	http://purl.obolibrary.org/obo/MONDO_0012755	DOID:0050995|http://identifiers.org/snomedct/718752007|https://omim.org/entry/611907|http://identifiers.org/mesh/C567459|UMLS:C2677843|Orphanet:209970	ordo_disease
MONDO:0012756	biolink:Disease	proximal 16p11.2 microdeletion syndrome	A chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.	UMLS:CN202166|MESH:C579850|SCTID:718227006|ICD9:758.39|OMIM:611913|SCTID:699307007|Orphanet:261197|NCIT:C120408|GARD:0010740	mondo.json	chromosome 16p11.2 deletion syndrome, 593kb|Del(16)(p11.2)|proximal monosomy 16p11.2|autism susceptibility 14A|16p11.2 deletion syndrome|microdeletion 16p11.2|proximal del(16)(p11.2)|chromosome 16p11.2 deletion syndrome, 593-KB|chromosome 16p11.2 deletion syndrome|monosomy 16p11.2|autism, susceptibility to, 14A	http://purl.obolibrary.org/obo/MONDO_0012756	http://identifiers.org/snomedct/718227006|http://identifiers.org/snomedct/699307007|Orphanet:261197|UMLS:CN202166|https://omim.org/entry/611913|NCIT:C120408|http://identifiers.org/mesh/C579850	ordo_malformation_syndrome|gard_rare|predisposition
HGNC:11799	biolink:NamedThing	THRB			mondo.json		http://identifiers.org/hgnc/11799		
MONDO:0012753	biolink:Disease	amyotrophic lateral sclerosis type 9	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ANG gene.	UMLS:C2678468|OMIM:611895|GARD:0010498|MESH:C567499|DOID:0060200	mondo.json	amyotrophic lateral sclerosis 9|ALS9|ANG amyotrophic lateral sclerosis|amyotrophic lateral sclerosis type 9|amyotrophic lateral sclerosis caused by mutation in ANG	http://purl.obolibrary.org/obo/MONDO_0012753	DOID:0060200|UMLS:C2678468|https://omim.org/entry/611895|http://identifiers.org/mesh/C567499	gard_rare
MONDO:0012754	biolink:Disease	nanophthalmos 3		MESH:C567498|UMLS:C2678467|OMIM:611897	mondo.json	nanophthalmos 3|Nanophthalmia 3|NNO3	http://purl.obolibrary.org/obo/MONDO_0012754	UMLS:C2678467|http://identifiers.org/mesh/C567498|https://omim.org/entry/611897	
MONDO:0034127	biolink:Disease	IgA pemphigus		Orphanet:555905	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034127	Orphanet:555905	ordo_disease
MONDO:0000779	biolink:Disease	obsolete apple allergy	OBSOLETE. A allergy involving a Malus domestica.	DOID:0060504	mondo.json	Malus domestica caused allergic disease|allergy of Malus domestica|Malus domestica allergic disease|Malus domestica fruit allergy	http://purl.obolibrary.org/obo/MONDO_0000779	DOID:0060504	
MONDO:0000778	biolink:Disease	fruit allergy	A food allergy triggered by a plant fruit product.	DOID:0060503	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000778	DOID:0060503	
UBERON:0008397	biolink:AnatomicalEntity	tracheobronchial epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008397		
MONDO:0036781	biolink:Disease	benign axillary neoplasm	A non-metastasizing neoplasm that arises from the structures of the axilla.	NCIT:C35750|UMLS:C0684828	mondo.json	benign axillary neoplasm|axillary neoplasm, benign	http://purl.obolibrary.org/obo/MONDO_0036781	NCIT:C35750|UMLS:C0684828	
HGNC:11791	biolink:NamedThing	TCHH			mondo.json		http://identifiers.org/hgnc/11791		
MONDO:0034122	biolink:Disease	obsolete NAD(P)HX epimerase deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0034122		
MONDO:0022145	biolink:Disease	obsolete Chiari malformation type II			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022145		
GO:0099177	biolink:NamedThing	regulation of trans-synaptic signaling	Any process that modulates the frequency, rate or extent of trans-synaptic signaling.		mondo.json		http://purl.obolibrary.org/obo/GO_0099177		
GO:0099171	biolink:NamedThing	presynaptic modulation of chemical synaptic transmission	Any process, acting in the presynapse that results in modulation of chemical synaptic transmission.		mondo.json		http://purl.obolibrary.org/obo/GO_0099171		
HGNC:11758	biolink:NamedThing	TFG			mondo.json		http://identifiers.org/hgnc/11758		
MONDO:0009169	biolink:Disease	endocardial fibroelastosis	Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.	Orphanet:2022|NCIT:C98922|MESH:D004695|EFO:0007251|OMIM:226000|ICD10CM:I42.4|UMLS:C0014117|ICD9:425.3|DOID:12929|MedDRA:10014663|SCTID:65457005|GARD:0006336	mondo.json	Elastomyofibrosis|endocardial fibroelastosis|EFE|endomyocardial fibroelastosis	http://purl.obolibrary.org/obo/MONDO_0009169	NCIT:C98922|DOID:12929|http://purl.bioontology.org/ontology/ICD10CM/I42.4|http://identifiers.org/mesh/D004695|Orphanet:2022|UMLS:C0014117|https://omim.org/entry/226000|http://identifiers.org/snomedct/65457005	ordo_disease|gard_rare
MONDO:0009168	biolink:Disease	Fowler syndrome		DOID:0111666|MESH:C565593|SCTID:700242002|MedDRA:10071718|ICD9:596.59|Orphanet:221126|OMIM:225790	mondo.json	PVHH|hydranencephaly, fowler type|proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome|Fowler syndrome|cerebral proliferative glomeruloid vasculopathy|hydrocephaly/hydranencephaly due to cerebral vasculopathy|Encephaloclastic proliferative vasculopathy|proliferative vasculopathy and hydranencephaly/hydrocephaly	http://purl.obolibrary.org/obo/MONDO_0009168	Orphanet:221126|http://identifiers.org/snomedct/700242002|http://identifiers.org/mesh/C565593|https://omim.org/entry/225790|DOID:0111666	ordo_malformation_syndrome
MONDO:0022140	biolink:Disease	Charles bonnet syndrome	Charles Bonnet syndrome (CBS) refers to the presenceof visual hallucinations in individuals with visual acuity loss without havingpsychosis or dementia. The condition is likely caused by the brain continuing to interpret images, even in their absence. Underlying conditions of vision loss associated with Charles Bonnet syndrome are diverse (including conditions such as macular degeneration and stroke) and may affect the eye, optic nerve, or brain. Hallucinations often resolve if the underlying vision deficit is corrected and can also remit in some individuals with static or progressive vision loss. Treatment is individualized.	GARD:0010343|SCTID:193756007|MESH:D000075562|UMLS:C0339731	mondo.json	CBS|charles bonnet syndrome	http://purl.obolibrary.org/obo/MONDO_0022140	UMLS:C0339731|http://identifiers.org/snomedct/193756007|http://identifiers.org/mesh/D000075562	gard_rare
GO:0099170	biolink:NamedThing	postsynaptic modulation of chemical synaptic transmission	Any process, acting in the postsynapse that results in modulation of chemical synaptic transmission.		mondo.json		http://purl.obolibrary.org/obo/GO_0099170		
MONDO:0009167	biolink:Disease	Bonnemann-Meinecke-Reich syndrome	Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.	UMLS:C1856973|SCTID:733049004|OMIM:225755|Orphanet:1261|GARD:0002113|MESH:C565594	mondo.json	Bonnemann Meinecke Reich syndrome|encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration|encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration|encephalopathy-intracerebral calcification-retinal degeneration syndrome	http://purl.obolibrary.org/obo/MONDO_0009167	http://identifiers.org/snomedct/733049004|Orphanet:1261|https://omim.org/entry/225755|http://identifiers.org/mesh/C565594|UMLS:C1856973	gard_rare|ordo_malformation_syndrome
MONDO:0009166	biolink:Disease	pontocerebellar hypoplasia type 4	Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.	DOID:0060273|Orphanet:166063|UMLS:C1856974|SCTID:718608006|MESH:C536716|OMIM:225753|GARD:0000343	mondo.json	PCH4|pontocerebellar hypoplasia, type 4|encephalopathy fatal infantile with olivopontocerebellar hypoplasia|encephalopathy, fatal infantile, with olivopontocerebellar Hypoplasia|fatal infantile encephalopathy with olivopontocerebellar hypoplasia|olivopontocerebellar hypoplasia	http://purl.obolibrary.org/obo/MONDO_0009166	Orphanet:166063|http://identifiers.org/snomedct/718608006|https://omim.org/entry/225753|http://identifiers.org/mesh/C536716|UMLS:C1856974|DOID:0060273	ordo_malformation_syndrome|gard_rare
MONDO:0010165	biolink:Disease	ulna hypoplasia-intellectual disability syndrome	Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.	UMLS:C1848650|UMLS:C2931370|GARD:0005398|OMIM:276821|MESH:C564757|Orphanet:2249	mondo.json	mesomelia of the upper limbs, anonychia congenita, clubfeet, and mental retardation|bilateral ulnar hypoplasia and intellectual disability|bilateral ulnar hypoplasia and mental retardation|mesomelia of the upper limbs, anonychia congenita, clubfeet, and intellectual disability|ulnar hypoplasia with mental retardation|ulna hypoplasia with mental retardation|mesomelia of the upper limbs, absent nails, clubfeet, and intellectual disability|mesomelia of the upper limbs, absent nails, clubfeet, and mental retardation|ulna hypoplasia with intellectual disability|ulnar hypoplasia with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010165	http://identifiers.org/mesh/C564757|UMLS:C2931370|UMLS:C1848650|https://omim.org/entry/276821|Orphanet:2249	ordo_malformation_syndrome
MONDO:0009165	biolink:Disease	Aicardi-Goutieres syndrome 1	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene.	OMIM:225750|GARD:0010893|UMLS:C0796126	mondo.json	Aicardi-Goutieres syndrome 1|Aicardi-Goutieres syndrome caused by mutation in TREX1|Ags|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|Aicardi-Goutieres syndrome 1, autosomal dominant|Aicardi-Goutieres syndrome 1, dominant and recessive|Cree encephalitis|Pseudotoxoplasmosis syndrome|TREX1 Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome type 1|AGS1	http://purl.obolibrary.org/obo/MONDO_0009165	UMLS:C0796126|https://omim.org/entry/225750	
HGNC:11764	biolink:NamedThing	TG			mondo.json		http://identifiers.org/hgnc/11764		
MONDO:0010164	biolink:Disease	phocomelia, Schinzel type	Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.	MESH:C535612|GARD:0005124|Orphanet:2879|GARD:0009212|SCTID:715522000|OMIM:276820	mondo.json	Teebi Naguib Al Awadi syndrome|severe limb deficit|aplasia/hypoplasia of limbs and pelvis|profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence|Al-Awadi/Raas-Rothschild syndrome|limb/pelvis-hypoplasia/aplasia syndrome|Schinzel phocomelia syndrome|Al-Awadi-Raas-Rothschild syndrome|Al Awadi Teebi Farag syndrome|absence of ulna and fibula with severe limb deficiency|ulna and fibula, absence of, with severe limb deficiency|Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome|congenital absence of ulna and fibula|ulna and fibula absence of with severe limb deficiency|Al Awadi-Raas-Rothschild syndrome|AARRS	http://purl.obolibrary.org/obo/MONDO_0010164	Orphanet:2879|http://identifiers.org/mesh/C535612|https://omim.org/entry/276820|http://identifiers.org/snomedct/715522000	gard_rare|ordo_malformation_syndrome
HGNC:11763	biolink:NamedThing	TFRC			mondo.json		http://identifiers.org/hgnc/11763		
MONDO:0009164	biolink:Disease	encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts		UMLS:C1856990|OMIM:225740|MESH:C565596	mondo.json	encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts|Lyon syndrome	http://purl.obolibrary.org/obo/MONDO_0009164	https://omim.org/entry/225740|UMLS:C1856990|http://identifiers.org/mesh/C565596	
MONDO:0010167	biolink:Disease	urocanic aciduria	Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.	OMIM:276880|SCTID:60952007|UMLS:C0268514|GARD:0008539|MESH:C536479|HP:0012237|Orphanet:210128	mondo.json	urocanic aciduria|urocanic aciduria (disease)|UROCD|encephalopathy due to urocanase deficiency|urocanase deficiency	http://purl.obolibrary.org/obo/MONDO_0010167	http://identifiers.org/mesh/C536479|Orphanet:210128|http://identifiers.org/snomedct/60952007|https://omim.org/entry/276880|UMLS:C0268514	ordo_disease
MONDO:0009163	biolink:Disease	encephalomalacia, multilocular		OMIM:225700|MESH:C565597|UMLS:C1856991	mondo.json	encephalomalacia, multilocular	http://purl.obolibrary.org/obo/MONDO_0009163	https://omim.org/entry/225700|UMLS:C1856991|http://identifiers.org/mesh/C565597	
HGNC:11762	biolink:NamedThing	TFR2			mondo.json		http://identifiers.org/hgnc/11762		
MONDO:0009162	biolink:Disease	Ellis-van Creveld syndrome	Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.	MESH:D004613|ICD9:756.55|SCTID:62501005|OMIM:225500|Orphanet:289|UMLS:C0013903|OMIM:617088|MedDRA:10008724|GARD:0001301|DOID:12714|UMLS:CN239258|NCIT:C84684	mondo.json	Chondroectodermal dysplasia|Ellis-VAN Creveld syndrome|mesodermic dysplasia|Ellis Van Creveld syndrome|Mesoectodermal dysplasia|Ellis-van Creveld syndrome|EVC	http://purl.obolibrary.org/obo/MONDO_0009162	NCIT:C84684|http://identifiers.org/mesh/D004613|http://identifiers.org/snomedct/62501005|UMLS:CN239258|Orphanet:289|https://omim.org/entry/225500|UMLS:C0013903|DOID:12714	gard_rare|ordo_malformation_syndrome
MONDO:0010166	biolink:Disease	ulnar agenesis and endocardial fibroelastosis		UMLS:C1848649|OMIM:276822|MESH:C564756	mondo.json	ulnar agenesis and endocardial fibroelastosis	http://purl.obolibrary.org/obo/MONDO_0010166	http://identifiers.org/mesh/C564756|https://omim.org/entry/276822|UMLS:C1848649	
MONDO:0010169	biolink:Disease	Usher syndrome type 2A	Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene.	MESH:C536490|OMIM:276901|DOID:0110838|ICD10CM:H35.5|UMLS:C1848634|GARD:0005440	mondo.json	Usher syndrome, type 2A|Usher syndrome type 2A|USHER syndrome, type IIA|USH2A|USH2A Usher syndrome|retinal disease in usher syndrome type IIA, modifier of|Usher syndrome caused by mutation in USH2A|Usher syndrome type IIA|US2	http://purl.obolibrary.org/obo/MONDO_0010169	http://identifiers.org/mesh/C536490|DOID:0110838|UMLS:C1848634|https://omim.org/entry/276901	
MONDO:0009161	biolink:Disease	Ehlers-Danlos syndrome, dermatosparaxis type	A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.	SCTID:55711009|MESH:C567527|OMIM:225410|Orphanet:1901|GARD:0002089	mondo.json	dermatosparaxis|EDS VIIC|EDS 7C|dermatosparaxis EDS|dermatosparaxis Ehlers-Danlos syndrome|EDSDERMS|Ehlers-Danlos syndrome, dermatosparaxis type|Ehlers-Danlos syndrome, type VII, autosomal recessive|dEDS|Ehlers-Danlos syndrome type 7C (formerly)|EDS7C|Ehlers-Danlos syndrome type 7C	http://purl.obolibrary.org/obo/MONDO_0009161	http://identifiers.org/snomedct/55711009|http://identifiers.org/mesh/C567527|https://omim.org/entry/225410|Orphanet:1901	ordo_disease
NCBITaxon:640628	biolink:OrganismalEntity	Poinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_640628		
HGNC:11768	biolink:NamedThing	TGFB2			mondo.json		http://identifiers.org/hgnc/11768		
MONDO:0010168	biolink:Disease	Usher syndrome type 1	A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa.	DOID:0110826|SCTID:232057003|Orphanet:231169|GARD:0005436|GARD:0005435|ICD10CM:H35.5|NCIT:C126327	mondo.json	Usher syndrome, type I, French variety|USH1|USH1A|Usher syndrome, type 1A|US1|Usher syndrome type 1|Usher syndrome, type Ia, formerly|Usher syndrome, type Ia|USHER syndrome, type I|retinitis pigmentosa and congenital deafness|Usher syndrome, type 1|Usher syndrome, type I, French variety, formerly|Usher syndrome, type 1B	http://purl.obolibrary.org/obo/MONDO_0010168	NCIT:C126327|DOID:0110826|http://identifiers.org/snomedct/232057003|Orphanet:231169	clingen|ordo_clinical_subtype|gard_rare
MONDO:0009160	biolink:Disease	obsolete Ehlers-Danlos syndrome, type 6			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009160		
HGNC:11766	biolink:NamedThing	TGFB1			mondo.json		http://identifiers.org/hgnc/11766		
HP:0011339	biolink:PhenotypicFeature	Abnormality of upper lip vermillion	An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin.	UMLS:C4023406	mondo.json	Anomaly of the upper lip vermillion|Abnormality of the red part of the upper lip|Deformity of the upper lip vermillion|Malformation of the upper lip vermillion	http://purl.obolibrary.org/obo/HP_0011339		
MONDO:0010161	biolink:Disease	tyrosinemia type I	Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.	MedDRA:10069462|Orphanet:882|SCTID:410056006|UMLS:C0268490|DOID:0050726|NCIT:C98641|GARD:0002658|OMIM:276700	mondo.json	type I tyrosinemia|fumarylacetoacetate hydrolase deficiency|tyrosinemia type I|FAH deficiency|hepatorenal tyrosinemia|fumarylacetoacetase deficiency|Fah deficiency|TYRSN1|tyrosinemia type 1|tyrosinemia, type I|tyrosinemia, type 1	http://purl.obolibrary.org/obo/MONDO_0010161	http://identifiers.org/snomedct/410056006|DOID:0050726|Orphanet:882|NCIT:C98641|https://omim.org/entry/276700|UMLS:C0268490	gard_rare|ordo_disease
MONDO:0010160	biolink:Disease	tyrosinemia type II	Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.	GARD:0003105|OMIM:276600|SCTID:4887000|MedDRA:10069463|NCIT:C129032|Orphanet:28378|DOID:0050725	mondo.json	keratosis palmoplantaris-corneal dystrophy syndrome|Tyrosinosis, oculocutaneous type|Richner-Hanhart syndrome|tyrosine transaminase deficiency|tyrosinemia type 2|tyrosine aminotransferase deficiency|Oregon type tyrosinemia|keratosis palmoplantaris with corneal dystrophy|Richner Hanhart syndrome|tyrosinemia due to TAT deficiency|TYRSN2|tyrosinemia, type II|tyrosinemia, type 2|tyrosinemia due to tyrosine aminotransferase deficiency|oculocutaneous tyrosinemia|Tyrosinosis oculocutaneous type|tyrosinemia type II|Tat deficiency	http://purl.obolibrary.org/obo/MONDO_0010160	http://identifiers.org/snomedct/4887000|DOID:0050725|https://omim.org/entry/276600|NCIT:C129032|Orphanet:28378	gard_rare|ordo_disease
MONDO:0010163	biolink:Disease	Tyrosinosis		UMLS:C0268484|ICD9:270.2|OMIM:276800|MESH:C562659|SCTID:57414003	mondo.json	Tyrosinosis	http://purl.obolibrary.org/obo/MONDO_0010163	http://identifiers.org/snomedct/57414003|http://identifiers.org/mesh/C562659|https://omim.org/entry/276800|UMLS:C0268484	
MONDO:0010162	biolink:Disease	tyrosinemia type III	Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.	OMIM:276710|UMLS:C0268623|Orphanet:69723|GARD:0010332|ICD9:270.2|MedDRA:10069461|SCTID:415764005|DOID:0050727	mondo.json	4-alpha hydroxyphenylpyruvate dioxygenase deficiency|tyrosinemia type 3|4-alpha hydroxyphenylpyruvic acid oxidase deficiency|tyrosinemia type III|tyrosinemia due to HPD deficiency|TYRSN3|tyrosinemia, type III|4-Hydroxyphenylpyruvate dioxygenase deficiency|tyrosinemia, type 3|tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency|4-Hydroxyphenylpyruvic acid oxidase deficiency|tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency	http://purl.obolibrary.org/obo/MONDO_0010162	Orphanet:69723|DOID:0050727|https://omim.org/entry/276710|http://identifiers.org/snomedct/415764005|UMLS:C0268623	gard_rare|ordo_disease
MONDO:0024797	biolink:Disease	adult brain stem neoplasm	A brainstem neoplasm that occurs in an adult.	UMLS:C1332192|NCIT:C5967	mondo.json	tumor of adult brain stem|tumor of adult brainstem|tumor of the adult brain stem|adult brain stem neoplasm|adult brainstem neoplasm|neoplasm of the adult brainstem|neoplasm of adult brain stem|neoplasm of adult brainstem|neoplasm of the adult brain stem|adult brain stem tumor|adult brainstem tumor|brainstem neoplasm of adults|tumor of the adult brainstem	http://purl.obolibrary.org/obo/MONDO_0024797	UMLS:C1332192|NCIT:C5967	
HGNC:23752	biolink:NamedThing	CERS3			mondo.json		http://identifiers.org/hgnc/23752		
GO:0099182	biolink:NamedThing	presynaptic intermediate filament cytoskeleton	The intermediate filament cytoskeleton that is part of a presynapse.		mondo.json		http://purl.obolibrary.org/obo/GO_0099182		
HGNC:11769	biolink:NamedThing	TGFB3			mondo.json		http://identifiers.org/hgnc/11769		
MONDO:0009179	biolink:Disease	recessive dystrophic epidermolysis bullosa	Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.	Orphanet:79408|OMIM:226600|SCTID:48528004|GARD:0006308|DOID:0060642|ICD9:757.39	mondo.json	RDEB, Hallopeau-Siemens type|RDEB|RDEB generalisata gravis|dystrophic epidermolysis bullosa, autosomal recessive|epidermolysis bullosa dystrophica, AR|epidermolysis bullosa dystrophica, Hallopeau-Siemens type|RDEB, severe generalized|autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type|epidermolysis bullosa dystrophica inversa, autosomal recessive|EBD inversa|autosomal recessive dystrophic epidermolysis bullosa generalisata gravis|epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant|severe generalized RDEB|epidermolysis bullosa dystrophica, autosomal recessive, modifier of|RDEB-sev gen|epidermolysis bullosa dystrophica, generalized severe, autosomal recessive|autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly)|recessive dystrophic epidermolysis bullosa, severe generalized|severe generalized recessive dystrophic epidermolysis bullosa|epidermolysis bullosa dystrophica, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009179	https://omim.org/entry/226600|Orphanet:79408|http://identifiers.org/snomedct/48528004|DOID:0060642	ordo_disease
MONDO:0009178	biolink:Disease	epidermolysis bullosa dystrophica Neurotrophica		MESH:C562637|SCTID:254176007|OMIM:226500|ICD9:757.39	mondo.json	epidermolysis bullosa progressiva, recessive|epidermolysis bullosa dystrophica Neurotrophica|epidermolysis bullosa with congenital deafness	http://purl.obolibrary.org/obo/MONDO_0009178	http://identifiers.org/mesh/C562637|https://omim.org/entry/226500|http://identifiers.org/snomedct/254176007	
MONDO:0009177	biolink:Disease	late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome		MESH:C535492|Orphanet:231556|GARD:0000299|UMLS:C1856969|OMIM:226440	mondo.json	epidermolysis bullosa, late-onset localized junctional, with intellectual disability|epidermolysis bullosa, late-onset localized junctional, with mental retardation|epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders	http://purl.obolibrary.org/obo/MONDO_0009177	Orphanet:231556|https://omim.org/entry/226440|UMLS:C1856969|http://identifiers.org/mesh/C535492	ordo_disease
MONDO:0010154	biolink:Disease	trigonocephaly-bifid nose-acral anomalies syndrome	Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges.	OMIM:275595|UMLS:C1848743|GARD:0005126|GARD:0005277|MESH:C564759|Orphanet:3368	mondo.json	trigonocephaly - bifid nose - acral anomalies|trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia|trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet	http://purl.obolibrary.org/obo/MONDO_0010154	http://identifiers.org/mesh/C564759|UMLS:C1848743|https://omim.org/entry/275595|Orphanet:3368	ordo_malformation_syndrome
MONDO:0009176	biolink:Disease	epidermodysplasia verruciformis	A rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.	NCIT:C126877|ICD9:078.19|Orphanet:302|OMIM:226400|OMIMPS:226400|UMLS:C0014522|ICD9:757.8|MESH:D004819|DOID:13777|GARD:0006357|MedDRA:10052339|SCTID:19138001	mondo.json	Lewandowsky-Lutz dysplasia|ever|Lewandowsky-Lutz syndrome|epidermodysplasia verruciformis|Lutz-Lewandowsky epidermodysplasia verruciformis|EV	http://purl.obolibrary.org/obo/MONDO_0009176	http://identifiers.org/mesh/D004819|UMLS:C0014522|Orphanet:302|DOID:13777|http://identifiers.org/snomedct/19138001|NCIT:C126877	ordo_disease|gard_rare
MONDO:0009175	biolink:Disease	eosinophilic fasciitis	Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed.	NCIT:C112116|GARD:0006351|UMLS:C0264005|ICD9:728.89|MedDRA:10014954|MESH:C562487|SCTID:24129002|HP:0045029|OMIM:226350|Orphanet:3165	mondo.json	Shulman syndrome|diffuse fasciitis with eosinophilia|eosinophilic fasciitis (disease)|EF|eosinophilic fasciitis	http://purl.obolibrary.org/obo/MONDO_0009175	Orphanet:3165|http://identifiers.org/snomedct/24129002|https://omim.org/entry/226350|UMLS:C0264005|NCIT:C112116|http://identifiers.org/mesh/C562487	ordo_disease
MONDO:0010153	biolink:Disease	trichoodontoonychial dysplasia	Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.	OMIM:275450|MESH:C564760|UMLS:C3502453|SCTID:766813000|GARD:0005267|Orphanet:3355	mondo.json	trichoodontoonychial dysplasia with bone deficiency in frontoparietal region|trichoodontoonychial dysplasia with bone deficiency	http://purl.obolibrary.org/obo/MONDO_0010153	http://identifiers.org/snomedct/766813000|UMLS:C3502453|http://identifiers.org/mesh/C564760|https://omim.org/entry/275450|Orphanet:3355	ordo_malformation_syndrome|gard_rare
MONDO:0009174	biolink:Disease	protein-losing enteropathy	Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine.	HP:0002243|Orphanet:566175|OMIM:226300|DOID:10611|MESH:D011504|SCTID:22542007|ICD9:579.8|UMLS:C0033680	mondo.json	CHAPLE|enteropathy, PROTEIN-losing|protein-losing enteropathy|protein-losing enteropathy (disease)|enteropathy, exudative|exudative enteropathy|complement hyperactivation, Angiopathic thrombosis, and Protein-losing enteropathy|complement hyperactivation, ANGIOPATHIC thrombosis, and PROTEIN-losing enteropathy	http://purl.obolibrary.org/obo/MONDO_0009174	http://identifiers.org/snomedct/22542007|DOID:10611|UMLS:C0033680|https://omim.org/entry/226300|Orphanet:566175|http://identifiers.org/mesh/D011504	
MONDO:0010156	biolink:Disease	Troyer syndrome	Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.	GARD:0005372|MESH:C536858|SCTID:230264003|ICD9:335.29|DOID:0050886|OMIM:275900|UMLS:C0393559|Orphanet:101000	mondo.json	childhood-onset spastic paraparesis-distal muscle wasting syndrome|autosomal recessive spastic paraplegia 20|childhood-onset spastic paraparesis with distal muscle wasting|spastic paraparesis, childhood-onset, with distal muscle wasting|SPG20|spastic paraplegia 20, autosomal recessive|hereditary spastic paraplegia 20|spastic paraplegia 20|spastic paraplegia, autosomal recessive, Troyer type|Cross-McKusick syndrome|spastic paraplegia 20 (Troyer syndrome)|Troyer syndrome|autosomal recessive spastic paraplegia Troyer type|spastic paraplegia type 20|autosomal recessive spastic paraplegia type 20	http://purl.obolibrary.org/obo/MONDO_0010156	http://identifiers.org/snomedct/230264003|http://identifiers.org/mesh/C536858|DOID:0050886|Orphanet:101000|UMLS:C0393559|https://omim.org/entry/275900	gard_rare|ordo_disease
HGNC:11773	biolink:NamedThing	TGFBR2			mondo.json		http://identifiers.org/hgnc/11773		
MONDO:0010155	biolink:Disease	Dorfman-Chanarin disease		GARD:0003979|OMIM:275630|Orphanet:98907|SCTID:19604005	mondo.json	ichthyotic neutral Lipid storage disease|Chanarin-Dorfman disease|ichthyosiform erythroderma with leukocyte vacuolation|triglyceride storage disease with impaired long-chain fatty acid oxidation|NLSDI|neutral lipid storage disease with ichthyotic|neutral lipid storage disease with ichthyosis|CDS|neutral Lipid storage disease with ichthyosis|Chanarin-Dorfman syndrome|Dorfman-Chanarin syndrome|Dorfman Chanarin syndrome|DCs|disorder of cornification 12 (neutral lipid storage type)	http://purl.obolibrary.org/obo/MONDO_0010155	http://identifiers.org/snomedct/19604005|Orphanet:98907|https://omim.org/entry/275630	ordo_disease
MONDO:0009173	biolink:Disease	congenital enteropathy due to enteropeptidase deficiency	A rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.	SCTID:190952002|UMLS:C0268416|OMIM:226200|ICD9:277.89|Orphanet:168601|DOID:0111667|MESH:C562649	mondo.json	congenital enterokinase deficiency|enteropeptidase deficiency|enterokinase deficiency	http://purl.obolibrary.org/obo/MONDO_0009173	UMLS:C0268416|https://omim.org/entry/226200|DOID:0111667|http://identifiers.org/snomedct/190952002|http://identifiers.org/mesh/C562649|Orphanet:168601	ordo_disease
HGNC:11772	biolink:NamedThing	TGFBR1			mondo.json		http://identifiers.org/hgnc/11772		
MONDO:0009172	biolink:Disease	enterocolitis	An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use.	HP:0004387|SCTID:43752006|NCIT:C79573|MESH:D004760|ICD9:558.9|EFO:1001481|OMIM:226150|UMLS:C0014356	mondo.json	enterocolitis (disease)|enterocolitis	http://purl.obolibrary.org/obo/MONDO_0009172	NCIT:C79573|https://omim.org/entry/226150|UMLS:C0014356|http://identifiers.org/snomedct/43752006|http://identifiers.org/mesh/D004760	
MONDO:0010158	biolink:Disease	T-substance anomaly		OMIM:276200	mondo.json	T-substance anomaly	http://purl.obolibrary.org/obo/MONDO_0010158	https://omim.org/entry/276200	
HGNC:11779	biolink:NamedThing	TGM3			mondo.json		http://identifiers.org/hgnc/11779		
MONDO:0009171	biolink:Disease	endothelial dystrophy, congenital hereditary, with nail hypoplasia		OMIM:226110|MESH:C565591|UMLS:C1856970	mondo.json	endothelial dystrophy, congenital hereditary, with nail hypoplasia	http://purl.obolibrary.org/obo/MONDO_0009171	https://omim.org/entry/226110|http://identifiers.org/mesh/C565591|UMLS:C1856970	
MONDO:0010157	biolink:Disease	Tryptophanuria with dwarfism		UMLS:C0268473|OMIM:276100|GARD:0004268|MESH:C562658|SCTID:12045002|ICD9:259.4	mondo.json	Tryptophanuria with dwarfism	http://purl.obolibrary.org/obo/MONDO_0010157	http://identifiers.org/snomedct/12045002|https://omim.org/entry/276100|http://identifiers.org/mesh/C562658|UMLS:C0268473	gard_rare
HGNC:11777	biolink:NamedThing	TGM1			mondo.json		http://identifiers.org/hgnc/11777		
MONDO:0009170	biolink:Disease	endocardial fibroelastosis and coarctation of abdominal aorta		OMIM:226100|MESH:C565592|UMLS:C1856971	mondo.json	endocardial fibroelastosis and coarctation of abdominal aorta	http://purl.obolibrary.org/obo/MONDO_0009170	https://omim.org/entry/226100|http://identifiers.org/mesh/C565592|UMLS:C1856971	
MONDO:0010159	biolink:Disease	mismatch repair cancer syndrome 1	A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1.	OMIM:276300|SCTID:61665008|GARD:0000420|UMLS:C0265325|UMLS:C4321324|NCIT:C130202|MESH:C536928|Orphanet:252202	mondo.json	BTP1 syndrome|glioma-polyposis syndrome|CMMR-D syndrome|malignant tumors of the central nervous system associated with familial polyposis of the colon|constitutional MIS-match repair deficiency syndrome|MMRCS1|mismatch repair cancer syndrome 1|brain tumor-polyposis syndrome|brain tumor-polyposis syndrome 1|Turcot syndrome|constitutional mismatch repair deficiency syndrome|MMRCS|mismatch repair deficiency|mismatch repair cancer syndrome|childhood cancer syndrome|MMR deficiency|CNS tumors with familial polyposis of the colon|CMMR-D	http://purl.obolibrary.org/obo/MONDO_0010159	UMLS:C4321324|UMLS:C0265325|http://identifiers.org/mesh/C536928|NCIT:C130202|Orphanet:252202|http://identifiers.org/snomedct/61665008|https://omim.org/entry/276300	ordo_disease
HGNC:11776	biolink:NamedThing	TGIF1			mondo.json		http://identifiers.org/hgnc/11776		
MONDO:0010150	biolink:Disease	head and neck squamous cell carcinoma	A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands.	ONCOTREE:HNSC|Orphanet:67037|MESH:C535575|UMLS:C1168401|DOID:5520|NCIT:C34447|EFO:0000181|MedDRA:10060121|OMIM:275355|SCTID:716659002	mondo.json	craniocervical region squamous cell carcinoma|HNSCC|SCCHN|squamous cell carcinoma, head and neck, somatic|squamous cell carcinoma of head and neck|carcinoma of the head and neck|squamous cell carcinoma of the head and neck|squamous cell carcinoma, head and neck|head and neck squamous cell carcinoma|squamous cell carcinomas of head and neck	http://purl.obolibrary.org/obo/MONDO_0010150	DOID:5520|NCIT:C34447|Orphanet:67037|http://identifiers.org/snomedct/716659002|http://identifiers.org/mesh/C535575|UMLS:C1168401|https://omim.org/entry/275355	ordo_disease
HGNC:11771	biolink:NamedThing	TGFBI			mondo.json		http://identifiers.org/hgnc/11771		
MONDO:0010152	biolink:Disease	trichomegaly-retina pigmentary degeneration-dwarfism syndrome	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.	DOID:0111271|Orphanet:3363|MESH:C536554|SCTID:719944006|GARD:0005266|UMLS:C1848745|OMIM:275400	mondo.json	eyelashes, long, with intellectual disability|trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina|trichomegaly with mental retardation, dwarfism, and pigmentary Degeneration of retina|long eyelashes-intellectual disability syndrome|Oliver-McFarlane syndrome|eyelashes, long, with mental retardation|trichomegaly with intellectual disability, dwarfism, and pigmentary Degeneration of retina|Oliver McFarlane syndrome|OMCS|eyelashes, long with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010152	http://identifiers.org/snomedct/719944006|DOID:0111271|http://identifiers.org/mesh/C536554|UMLS:C1848745|https://omim.org/entry/275400|Orphanet:3363	ordo_malformation_syndrome
CHR:9606-chr19p13.12	biolink:NamedThing	19p13.12 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr19p13.12		
CHR:9606-chr19p13.13	biolink:NamedThing	19p13.13 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr19p13.13		
MONDO:0010151	biolink:Disease	tricarboxylic acid cycle, defect of		MESH:C564762|OMIM:275370|UMLS:C1848746	mondo.json	tricarboxylic acid cycle, defect of	http://purl.obolibrary.org/obo/MONDO_0010151	http://identifiers.org/mesh/C564762|https://omim.org/entry/275370|UMLS:C1848746	
HP:0011314	biolink:PhenotypicFeature	Abnormality of long bone morphology	An abnormality of size or shape of the long bones.	UMLS:C4021165	mondo.json	Abnormal shape of long bone|Abnormality of the tubular bones	http://purl.obolibrary.org/obo/HP_0011314		
MONDO:0010139	biolink:Disease	isolated thyroid-stimulating hormone deficiency	Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.	UMLS:C4082174|Orphanet:90674|OMIM:275100|GARD:0010129|UMLS:C0271789|DOID:0070123	mondo.json	thyrotropin, biologically inactive|hypothyroidism, congenital, nongoitrous, type 4|thyroid-stimulating hormone deficiency|thyroid-stimulating hormone, deficiency of|hypothyroidism, congenital, nongoitrous, 4|TSH deficiency|pituitary cretinism|thyrotropin deficiency, isolated|congenital nongoitrous hypothyroidism 4|congenital nongoitrous hypothryoidism 4|isolated thyrotropin deficiency|isolated TSH deficiency|CHNG4|hypothyroidism, congenital, nongoitrous 4	http://purl.obolibrary.org/obo/MONDO_0010139	UMLS:C4082174|https://omim.org/entry/275100|DOID:0070123|UMLS:C0271789|Orphanet:90674	ordo_disease
MONDO:0009149	biolink:Disease	ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome	Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.	OMIM:225040|MESH:C565605|UMLS:C1857053|Orphanet:1812	mondo.json	ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum	http://purl.obolibrary.org/obo/MONDO_0009149	Orphanet:1812|http://identifiers.org/mesh/C565605|UMLS:C1857053|https://omim.org/entry/225040	ordo_malformation_syndrome
HP:0001987	biolink:PhenotypicFeature	Hyperammonemia	An increased concentration of ammonia in the blood.	MSH:D022124|SNOMEDCT_US:9360008|UMLS:C0220994	mondo.json	High blood ammonia levels	http://purl.obolibrary.org/obo/HP_0001987		
MONDO:0009148	biolink:Disease	Rosselli-Gulienetti syndrome	A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene	OMIM:225000|Orphanet:90339|MESH:C563117|UMLS:C0796139	mondo.json	Rosselli-Gulienetti syndrome	http://purl.obolibrary.org/obo/MONDO_0009148	http://identifiers.org/mesh/C563117|UMLS:C0796139|https://omim.org/entry/225000|Orphanet:90339	speculative
MONDO:0009147	biolink:Disease	ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		UMLS:C3887494|DOID:0111665|OMIM:224900	mondo.json	ectodermal dysplasia, hypohidrotic|ectodermal dysplasia, anhidrotic|ECTD10B|ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009147	DOID:0111665|https://omim.org/entry/224900|UMLS:C3887494	
MONDO:0009146	biolink:Disease	ectodermal dysplasia-sensorineural deafness syndrome	Ectodermal dysplasia-sensorineural deafness syndrome is characterised by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.	GARD:0009723|MESH:C565606|OMIM:224800|Orphanet:1883|MESH:C535757|UMLS:C1857068	mondo.json	hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers|ectodermal dysplasia and neurosensory deafness|congenital ectodermal dysplasia with hearing loss|Mikaelian syndrome|ectodermal dysplasia-sensorineural hearing loss syndrome	http://purl.obolibrary.org/obo/MONDO_0009146	http://identifiers.org/mesh/C565606|https://omim.org/entry/224800|http://identifiers.org/mesh/C535757|UMLS:C1857068|Orphanet:1883	ordo_malformation_syndrome|gard_rare
MONDO:0009145	biolink:Disease	SchC6pf-Schulz-Passarge syndrome	A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.	SCTID:700062000|MESH:C565607|ICD9:758.89|UMLS:C1857069|OMIM:224750|DOID:0111647|Orphanet:50944	mondo.json	keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome|palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome|SChöPF-Schulz-Passarge syndrome|eccrine tumors-ectodermal dysplasia|eccrine tumors with ectodermal dysplasia|SSPS|keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis|SCHOPF-Schulz-Passarge syndrome|palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome	http://purl.obolibrary.org/obo/MONDO_0009145	https://omim.org/entry/224750|http://identifiers.org/snomedct/700062000|UMLS:C1857069|Orphanet:50944|DOID:0111647|http://identifiers.org/mesh/C565607	ordo_disease
MONDO:0009144	biolink:Disease	Ebstein anomaly	Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction.	GARD:0006313|MedDRA:10014075|EFO:0007244|ICD9:746.2|UMLS:C0013481|DOID:14289|Orphanet:1880|NCIT:C84681|MESH:D004437|OMIM:224700	mondo.json	Ebstein's malformation|Ebstein's anomaly of tricuspid valve|Ebstein's anomaly (disorder) [ambiguous]|Ebstein malformation|Ebstein's anomaly of right atrioventricular valve|Ebstein anomaly (disease)|Ebstein's anomaly|Ebstein anomaly|Ebstein's anomaly of common atrioventricular valve|Ebstein anomaly of the tricuspid valve	http://purl.obolibrary.org/obo/MONDO_0009144	http://identifiers.org/mesh/D004437|NCIT:C84681|UMLS:C0013481|DOID:14289|Orphanet:1880|https://omim.org/entry/224700	ordo_morphological_anomaly
MONDO:0024781	biolink:Disease	immunodeficiency 102	An X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation.	OMIM:301082	mondo.json	SASH3 deficiency|immunodeficiency 102|IMD102	http://purl.obolibrary.org/obo/MONDO_0024781	https://omim.org/entry/301082	
MONDO:0009143	biolink:Disease	Meier-Gorlin syndrome 1	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene.	OMIM:224690|SCTID:703508009|ICD9:759.89|DOID:0080512|UMLS:CN030358	mondo.json	Meier-GORLIN syndrome 1|ORC1 Meier-Gorlin syndrome|Meier-Gorlin syndrome 1|Meier-Gorlin syndrome|microtia, absent patellae, micrognathia syndrome|Ear, patella, short stature syndrome|Meier-Gorlin syndrome type 1|Meier-Gorlin syndrome caused by mutation in ORC1|MGORS1	http://purl.obolibrary.org/obo/MONDO_0009143	http://identifiers.org/snomedct/703508009|DOID:0080512|UMLS:CN030358|https://omim.org/entry/224690	
MONDO:0010143	biolink:Disease	obsolete lethal restrictive dermopathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010143		
HGNC:11742	biolink:NamedThing	TFAP2A			mondo.json		http://identifiers.org/hgnc/11742		
CHEBI:16716	biolink:ChemicalSubstance	benzene	A six-carbon aromatic annulene in which each carbon atom donates one of its two 2p electrons into a delocalised pi system. A toxic, flammable liquid byproduct of coal distillation, it is used as an industrial solvent. Benzene is a carcinogen that also damages bone marrow and the central nervous system.		mondo.json	[6]annulene|Phene|Pyrobenzole|Pyrobenzol|BENZENE|benzene|Benzene|Benzine|phenyl hydride|Benzol|Mineral naphtha|Bicarburet of hydrogen|Coal naphtha|benzole|Benzen|cyclohexatriene	http://purl.obolibrary.org/obo/CHEBI_16716		
MONDO:0009142	biolink:Disease	dystonia with Ringbinden		MESH:C565608|UMLS:C1857089|OMIM:224550	mondo.json	dystonia with Ringbinden	http://purl.obolibrary.org/obo/MONDO_0009142	UMLS:C1857089|http://identifiers.org/mesh/C565608|https://omim.org/entry/224550	
MONDO:0010142	biolink:Disease	hypothyroidism due to TSH receptor mutations	Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.	DOID:0070126|UMLS:C3493776|UMLS:CN206435|OMIM:275200|Orphanet:90673	mondo.json	hypothyroidism, congenital, nongoitrous, type 1|CHNG1|hypothyroidism, congenital, nongoitrous, 1|hypothyroidism due to unresponsiveness to thyrotropin|congenital nongoitrous hypothyroidism 1|congenital nongoitrous hypothryoidism 1|TSH resistance|thyroid-stimulating hormone, resistance to|hypothyroidism, congenital, due to TSH resistance|hypothyroidism, Nonautoimmune|thyrotropin resistance	http://purl.obolibrary.org/obo/MONDO_0010142	Orphanet:90673|UMLS:C3493776|UMLS:CN206435|https://omim.org/entry/275200|DOID:0070126	ordo_disease
HGNC:11741	biolink:NamedThing	TFAM			mondo.json		http://identifiers.org/hgnc/11741		
MONDO:0009141	biolink:Disease	torsion dystonia 2	Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.	OMIM:224500|NCIT:C123415|UMLS:C1857093|DOID:0090038|Orphanet:99657|GARD:0002028|MESH:C538006	mondo.json	torsion dystonia 2, autosomal recessive type|torsion dystonia type 2|autosomal recessive torsion dystonia 2|dystonia musculorum deformans type 2|dystonia musculorum deformans 2|HPCA dystonic disorder|dystonia 2, torsion, autosomal recessive|primary dystonia, DYT2 type|DYT2|dystonic disorder caused by mutation in HPCA	http://purl.obolibrary.org/obo/MONDO_0009141	NCIT:C123415|http://identifiers.org/mesh/C538006|UMLS:C1857093|Orphanet:99657|DOID:0090038|https://omim.org/entry/224500	ordo_disease
MONDO:0010145	biolink:Disease	tibia, absence of, with congenital deafness		MESH:C564764|OMIM:275230|UMLS:C1848758	mondo.json	tibia, absence of, with congenital deafness	http://purl.obolibrary.org/obo/MONDO_0010145	http://identifiers.org/mesh/C564764|https://omim.org/entry/275230|UMLS:C1848758	
HGNC:11740	biolink:NamedThing	TF			mondo.json		http://identifiers.org/hgnc/11740		
MONDO:0009140	biolink:Disease	Silverman-Handmaker type dyssegmental dysplasia	Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.	ICD9:759.89|OMIM:224410|SCTID:93132001|MESH:C537998|DOID:0090032|GARD:0002026|Orphanet:1865	mondo.json	dyssegmental dysplasia Silverman-Handmaker type|Anisospondylic Camptomicromelic dwarfism, Silverman-Handmaker type|Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type|dyssegmental dwarfism, Silverman-Handmaker type|DDSH|dyssegmental dwarfism Silverman-Handmaker type|dyssegmental dysplasia, Silverman-Handmaker type	http://purl.obolibrary.org/obo/MONDO_0009140	http://identifiers.org/snomedct/93132001|https://omim.org/entry/224410|Orphanet:1865|http://identifiers.org/mesh/C537998|DOID:0090032	gard_rare|ordo_disease
MONDO:0010144	biolink:Disease	tibial hemimelia	Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.	OMIM:275220|GARD:0008707|MESH:C535563|Orphanet:93322|SCTID:79177001	mondo.json	bilateral absence of the tibia|tibial hemimelia|absence of tibia|congenital aplasia and dysplasia of the tibia with intact fibula|tibial longitudinal meromelia|congenital longitudinal deficiency of the tibia|Thm|tibia, absence of|congenital absence of tibia	http://purl.obolibrary.org/obo/MONDO_0010144	http://identifiers.org/mesh/C535563|http://identifiers.org/snomedct/79177001|https://omim.org/entry/275220|Orphanet:93322	ordo_morphological_anomaly
MONDO:0010147	biolink:Disease	tongue, pigmented fungiform papillae of		UMLS:C1848756|OMIM:275250	mondo.json	tongue, pigmented fungiform papillae of	http://purl.obolibrary.org/obo/MONDO_0010147	UMLS:C1848756|https://omim.org/entry/275250	
MONDO:0010146	biolink:Disease	Kerion celsi	A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy.	GARD:0003109|OMIM:275240|SCTID:19087001|Orphanet:499|UMLS:C0276742	mondo.json	Tinea capitis profunda|trichophytia profunda barbae|trichophytia profunda capitis|TINEA imbricata, susceptibility to|susceptibility to Tinea imbricata|Trichophyton infection	http://purl.obolibrary.org/obo/MONDO_0010146	Orphanet:499|UMLS:C0276742|https://omim.org/entry/275240|http://identifiers.org/snomedct/19087001	gard_rare|ordo_disease
MONDO:0010149	biolink:Disease	transcobalamin II deficiency	Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.	GARD:0012338|NCIT:C142806|ICD10CM:D51.2|UMLS:C0342701|Orphanet:859|OMIM:275350|SCTID:237934001|DOID:0050818	mondo.json	TCN2 deficiency|transcobalamin 2 deficiency|transcobalamin deficiency|TC 2 deficiency|Tcn2 deficiency|transcobalamin II deficiency|inherited deficiency of transcobalamin	http://purl.obolibrary.org/obo/MONDO_0010149	NCIT:C142806|http://purl.bioontology.org/ontology/ICD10CM/D51.2|http://identifiers.org/snomedct/237934001|DOID:0050818|Orphanet:859|UMLS:C0342701|https://omim.org/entry/275350	ordo_disease
MONDO:0010148	biolink:Disease	Mounier-Kuhn syndrome	Mounier-Kuhn syndrome, also known as idiopathic tracheobronchomegaly, is a congenital disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections.	UMLS:C0040587|MedDRA:10044316|GARD:0005234|OMIM:275300|UMLS:C2713583|Orphanet:3347|MESH:D014137|NCIT:C85196|SCTID:57451009|ICD9:748.3|GARD:0003793	mondo.json	tracheobronchomegaly|idiopathic tracheobronchomegaly|congenital tracheobronchomegaly|Mounier-Kühn syndrome|Mounier Kuhn syndrome|Mounier-Kuhn syndrome	http://purl.obolibrary.org/obo/MONDO_0010148	Orphanet:3347|http://identifiers.org/mesh/D014137|UMLS:C2713583|http://identifiers.org/snomedct/57451009|UMLS:C0040587|NCIT:C85196|https://omim.org/entry/275300	ordo_clinical_syndrome
HGNC:11743	biolink:NamedThing	TFAP2B			mondo.json		http://identifiers.org/hgnc/11743		
MONDO:0010141	biolink:Disease	tiglic acidemia		MESH:C536921|ICD9:270.8|GARD:0009958|SCTID:444755001|OMIM:275190|UMLS:C1848793	mondo.json	disorder of isoleucine metabolism|tiglic acidemia	http://purl.obolibrary.org/obo/MONDO_0010141	http://identifiers.org/snomedct/444755001|http://identifiers.org/mesh/C536921|https://omim.org/entry/275190|UMLS:C1848793	gard_rare
NCBITaxon:38323	biolink:OrganismalEntity	Bartonella henselae		PMID:8240958|GC_ID:11|PMID:1371515	mondo.json	Rochalimaea henselae	http://purl.obolibrary.org/obo/NCBITaxon_38323		
HGNC:23719	biolink:NamedThing	PGAP3			mondo.json		http://identifiers.org/hgnc/23719		
MONDO:0010140	biolink:Disease	isolated thyrotropin-releasing hormone deficiency	Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone.	OMIM:275120|ICD9:253.4|Orphanet:238670|SCTID:10736002|NCIT:C121741	mondo.json	isolated thyroliberin deficiency|isolated TRF deficiency|thyrotropin-releasing hormone deficiency|isolated protirelin deficiency|isolated TRH deficiency|isolated TSH-releasing factor deficiency|tertiary hypothyroidism|isolated thyrotropin-releasing factor deficiency|hypothalamic hypothyroidism|TRH deficiency|isolated prothyroliberin deficiency	http://purl.obolibrary.org/obo/MONDO_0010140	NCIT:C121741|Orphanet:238670|http://identifiers.org/snomedct/10736002|https://omim.org/entry/275120	ordo_disease
MONDO:0024773	biolink:Disease	spermatogenic failure, x-linked, 4		OMIM:301077	mondo.json	SPGFX4|spermatogenic failure, x-linked, 4	http://purl.obolibrary.org/obo/MONDO_0024773	https://omim.org/entry/301077	
MONDO:0024772	biolink:Disease	intellectual developmental disorder, X-linked, syndromic, Pilorge type		OMIM:301076	mondo.json	intellectual developmental disorder, x-linked, syndromic, Pilorge type|MRXSP	http://purl.obolibrary.org/obo/MONDO_0024772	https://omim.org/entry/301076	
MONDO:0022113	biolink:Disease	central centrifugal cicatricial alopecia		GARD:0010826|UMLS:C1274708|OMIM:618352|SCTID:109441000119102|ICD9:704.09	mondo.json	hot comb alopecia|central centrifugal alopecia|CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA|central centrifugal cicatricial alopecia|CCCA	http://purl.obolibrary.org/obo/MONDO_0022113	http://identifiers.org/snomedct/109441000119102|UMLS:C1274708|https://omim.org/entry/618352	gard_rare
MONDO:0024777	biolink:Disease	immunodeficiency 98 with autoinflammation, X-linked	An immunodeficiency disease characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Laboratory studies show evidence of immune dysregulation, including hypogammaglobulinemia with reduced memory B cells, skewed T-cell subsets, increased levels of proinflammatory cytokines, activated T cells and monocytes, and autoimmune cytopenias, including neutropenia.	OMIM:301078	mondo.json	X-linked immunodeficiency with autoinflammation|immunodeficiency 98 with autoinflammation, X-linked|IMD98|inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by TLR8	http://purl.obolibrary.org/obo/MONDO_0024777	https://omim.org/entry/301078	
HGNC:23734	biolink:NamedThing	PTF1A			mondo.json		http://identifiers.org/hgnc/23734		
MONDO:0010129	biolink:Disease	thymic-renal-anal-lung dysplasia	This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus.	GARD:0005202|SCTID:723555007|MESH:C536907|Orphanet:3326|OMIM:274265|UMLS:C1848812	mondo.json	syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR)|thymic-renal-anal-lung dysplasia	http://purl.obolibrary.org/obo/MONDO_0010129	http://identifiers.org/snomedct/723555007|https://omim.org/entry/274265|UMLS:C1848812|Orphanet:3326|http://identifiers.org/mesh/C536907	ordo_malformation_syndrome|gard_rare
MONDO:0010128	biolink:Disease	thyrocerebrorenal syndrome	Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait.	GARD:0005203|Orphanet:3327|MESH:C536908|OMIM:274240|UMLS:C4518579|SCTID:733096007|UMLS:C1848813	mondo.json	Thyrocerebral-retinal syndrome|cutler-Bass-Romshe syndrome|THYROCEREBRORETINAL syndrome	http://purl.obolibrary.org/obo/MONDO_0010128	UMLS:C1848813|https://omim.org/entry/274240|UMLS:C4518579|Orphanet:3327|http://identifiers.org/snomedct/733096007|http://identifiers.org/mesh/C536908	ordo_malformation_syndrome
GO:0099160	biolink:NamedThing	postsynaptic intermediate filament cytoskeleton	The intermediate filament cytoskeleton that is part of a postsynapse.		mondo.json		http://purl.obolibrary.org/obo/GO_0099160		
MONDO:0009159	biolink:Disease	Ehlers-Danlos syndrome, cardiac valvular type	Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.	MESH:C536200|SCTID:720858001|GARD:0012613|Orphanet:230851|OMIM:225320	mondo.json	Ehlers-Danlos syndrome, autosomal recessive, CARDIAC valvular form|Ehlers-Danlos syndrome, CARDIAC valvular type|EDS, cardiac valvular type|Cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome|Cardiac valvular form of Ehlers-Danlos syndrome|Cardiac-valvular Ehlers-Danlos syndrome|Cardiac-valvular EDS|cvEDS|Ehlers-Danlos syndrome, arthrochalasis type|Ehlers-Danlos syndrome, autosomal recessive, Cardiac valvular form|EDSCV	http://purl.obolibrary.org/obo/MONDO_0009159	https://omim.org/entry/225320|http://identifiers.org/snomedct/720858001|http://identifiers.org/mesh/C536200|Orphanet:230851	ordo_disease
HP:0001999	biolink:PhenotypicFeature	Abnormal facial shape	An abnormal morphology (form) of the face or its components.	SNOMEDCT_US:398302004|UMLS:C0424503|UMLS:C4072833|SNOMEDCT_US:32003007|UMLS:C1385263|UMLS:C4072832|SNOMEDCT_US:398206004|SNOMEDCT_US:248200007|UMLS:C0266617	mondo.json	Facial dysmorphism|Abnormal facial shape|Malformation of face|Deformity of face|Unusual facial appearance|Distortion of face|Unusual facies|Dysmorphic facial features|Dysmorphic facies|Distinctive facies|Abnormal morphology of the face|Funny looking face	http://purl.obolibrary.org/obo/HP_0001999		hposlim_core
MONDO:0009158	biolink:Disease	Ehlers-Danlos syndrome, fibronectinemic type	Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive.	SCTID:83586000|Orphanet:75501|MESH:C565600|GARD:0008508|OMIM:225310	mondo.json	EDS X|Ehlers-Danlos syndrome, type 10|FN Abnormality|EDS10 (formerly)|Ehlers-Danlos syndrome type 10|Ehlers-Danlos syndrome, fibronectin-deficient|EDS 10|Ehlers-Danlos syndrome type 10 (formerly)|Ehlers-Danlos syndrome, type X (formerly)|Ehlers-Danlos syndrome, dysfibronectinemic type|Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality	http://purl.obolibrary.org/obo/MONDO_0009158	https://omim.org/entry/225310|http://identifiers.org/snomedct/83586000|http://identifiers.org/mesh/C565600	ordo_disease
CHEBI:16709	biolink:ChemicalSubstance	pyridoxine	A hydroxymethylpyridine with hydroxymethyl groups at positions 4 and 5, a hydroxy group at position 3 and a methyl group at position 2. The 4-methanol form of vitamin B6, it is converted intoto pyridoxal phosphate which is a coenzyme for synthesis of amino acids, neurotransmitters, sphingolipids and aminolevulinic acid.		mondo.json	pyridoxinum|2-methyl-3-hydroxy-4,5-bis(hydroxymethyl)pyridine|Pyridoxol|3-hydroxy-4,5-bis(hydroxymethyl)-2-methylpyridine|pyridoxine|4,5-bis(hydroxymethyl)-2-methyl-pyridin-3-ol|2-methyl-4,5-dimethylol-pyridin-3-ol|pyridoxine|pyridoxolum|4,5-bis(hydroxymethyl)-2-methylpyridin-3-ol|vitamin B6|piridossina|2-methyl-3-hydroxy-4,5-di(hydroxymethyl)pyridine|pyridoxina|2-methyl-4,5-bis(hydroxymethyl)-3-hydroxypyridine|2-methyl-3-hydroxy-4,5-dihydroxymethylpyridine|3-hydroxy-4,5-dimethylol-alpha-picoline|3-hydroxy-2-picoline-4,5-dimethanol|2-Methyl-3-hydroxy-4,5-dihydroxymethyl-pyridin|5-hydroxy-6-methyl-3,4-pyridinedimethanol	http://purl.obolibrary.org/obo/CHEBI_16709		
MONDO:0009157	biolink:Disease	split hand-foot malformation 6	Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene.	OMIM:225300|MESH:C567616|UMLS:C2749665|DOID:0090026	mondo.json	split hand-foot malformation caused by mutation in WNT10B|WNT10B split hand-foot malformation|split hand-foot malformation type 6|SHFM6|split-hand/foot malformation 6|split-hand/foot malformation type 6|ectrodactyly, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009157	http://identifiers.org/mesh/C567616|https://omim.org/entry/225300|UMLS:C2749665|DOID:0090026	
MONDO:0009156	biolink:Disease	ectrodactyly-polydactyly syndrome	A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.	GARD:0002068|OMIM:225290|MESH:C565601|Orphanet:1892|UMLS:C1857040	mondo.json	ectrodactyly polydactyly|ectrodactyly-polydactyly	http://purl.obolibrary.org/obo/MONDO_0009156	UMLS:C1857040|https://omim.org/entry/225290|Orphanet:1892|http://identifiers.org/mesh/C565601	gard_rare|ordo_malformation_syndrome
MONDO:0024771	biolink:Disease	myopathy, distal, 7, adult-onset, X-linked		OMIM:301075	mondo.json	MPD7|myopathy, distal, 7, adult-onset, X-linked	http://purl.obolibrary.org/obo/MONDO_0024771	https://omim.org/entry/301075	
MONDO:0009155	biolink:Disease	EEM syndrome	EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).	GARD:0002078|OMIM:225280|Orphanet:1897|MESH:C536190|DOID:0111649|SCTID:720856002	mondo.json	EEM syndrome|ectodermal dysplasia, ectrodactyly, and macular dystrophy|ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome|EEMS|ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0009155	https://omim.org/entry/225280|http://identifiers.org/mesh/C536190|Orphanet:1897|DOID:0111649|http://identifiers.org/snomedct/720856002	ordo_malformation_syndrome|gard_rare
MONDO:0024770	biolink:Disease	autoinflammatory syndrome, familial, X-linked, Behcet-like 2		OMIM:301074	mondo.json	AIFBL2|deficiency 1n ELF4, X-linked|autoinflammatory syndrome, familial, X-linked, Behcet-like 2	http://purl.obolibrary.org/obo/MONDO_0024770	https://omim.org/entry/301074	
MONDO:0009154	biolink:Disease	hypothyroidism, congenital, nongoitrous, 5	Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene.	Orphanet:90673|UMLS:C2673630|OMIM:225250|DOID:0070125|MESH:C567123	mondo.json	CHNG5|hypothyroidism, congenital, nongoitrous, 5|NKX2-5 hypothyroidism, congenital, nongoitrous|congenital nongoitrous hypothyroidism 5|hypothyroidism, congenital, nongoitrous, type 5|congenital nongoitrous hypothryoidism 5|hypothyroidism, congenital nongoitrous, 5|hypothyroidism, congenital, nongoitrous caused by mutation in NKX2-5	http://purl.obolibrary.org/obo/MONDO_0009154	DOID:0070125|http://identifiers.org/mesh/C567123|https://omim.org/entry/225250|UMLS:C2673630	
MONDO:0010132	biolink:Disease	familial thyroid dyshormonogenesis	A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.	NCIT:C121751|UMLS:C1848805|SCTID:718183003|MESH:C564766|Orphanet:95716	mondo.json	nongoitrous hyperthyrotropinemia|dyshormonogenesis|thyroid dyshormonogenesis	http://purl.obolibrary.org/obo/MONDO_0010132	UMLS:C1848805|NCIT:C121751|http://identifiers.org/snomedct/718183003|http://identifiers.org/mesh/C564766|Orphanet:95716	ordo_disease
MONDO:0012795	biolink:Disease	hypophosphatemic rickets and hyperparathyroidism		UMLS:C2677524|MESH:C567423|OMIM:612089	mondo.json	hypophosphatemic rickets and hyperparathyroidism	http://purl.obolibrary.org/obo/MONDO_0012795	UMLS:C2677524|http://identifiers.org/mesh/C567423|https://omim.org/entry/612089	
MONDO:0010131	biolink:Disease	thyroid hormone resistance, generalized, autosomal recessive	A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.	MESH:C567936|OMIM:274300|GARD:0000301|NCIT:C85191|HGNC:11799	mondo.json	Refetoff syndrome|thyroid hormone unresponsiveness|thyroid hormone resistance, generalized, autosomal recessive|THRB|thyroid hormone receptor BETA|thyroid hormone resistance syndrome|thyroid hormone resistance|GRTH|thyroid hormone resistance, autosomal recessive|Gthr	http://purl.obolibrary.org/obo/MONDO_0010131	http://identifiers.org/mesh/C567936|NCIT:C85191|https://omim.org/entry/274300	gard_rare
CHEBI:16705	biolink:ChemicalSubstance	6-aminopenicillanic acid	A penicillanic acid compound having a (6R)-amino substituent. The active nucleus common to all penicillins, it may be substituted at the 6-amino position to form the semisynthetic penicillins, resulting in a variety of antibacterial and pharmacologic characteristics.		mondo.json	Penicin|6-Aminopenicillanate|6-Aminopenicillamine acid|6-amino-2,2-dimethylpenam-3alpha-carboxylic acid|Aminopenicillanic acid|(+)-6-aminopenicillanic acid|6-Aminopenicillanic acid|Penin|(2S,5R,6R)-6-amino-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid|6-Aps|6-APA|6-Apa|Phenacyl 6-aminopenicillinate|6beta-aminopenicillanic acid	http://purl.obolibrary.org/obo/CHEBI_16705		
MONDO:0009153	biolink:Disease	ectopia lentis et pupillae		SCTID:419237004|UMLS:C1644196|MESH:C563268|DOID:0111648|OMIM:225200	mondo.json	ectopia lentis et pupillae|ectopia lentis with ectopia of pupil	http://purl.obolibrary.org/obo/MONDO_0009153	http://identifiers.org/snomedct/419237004|https://omim.org/entry/225200|UMLS:C1644196|DOID:0111648|http://identifiers.org/mesh/C563268	
MONDO:0012796	biolink:Disease	retinitis pigmentosa 41	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene.	ICD10CM:H35.5|OMIM:612095|GARD:0010379|MESH:C567422|UMLS:C2677516|DOID:0110376	mondo.json	retinitis pigmentosa 41|RP 41|RP41|retinitis pigmentosa type 41|PROM1 retinitis pigmentosa|retinal Degeneration, autosomal recessive, prominin-related|retinitis pigmentosa caused by mutation in PROM1	http://purl.obolibrary.org/obo/MONDO_0012796	UMLS:C2677516|http://identifiers.org/mesh/C567422|DOID:0110376|https://omim.org/entry/612095	gard_rare
HGNC:11752	biolink:NamedThing	TFE3			mondo.json		http://identifiers.org/hgnc/11752		
MONDO:0010134	biolink:Disease	Pendred syndrome	Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.	UMLS:C0271829|GARD:0004271|DOID:0060744|Orphanet:705|OMIM:274600|SCTID:70348004|NCIT:C121745|MESH:C536648	mondo.json	Pendred syndrome|hypothyroidism, congenital, due to dyshormonogenesis, 2B|thyroid hormonogenesis, genetic defect in, 2B|autosomal recessive sensorineural hearing impairment and goiter|thyroid dyshormonogenesis 2B|PDS|goiter-deafness syndrome|deafness with goiter|congenital hypothyroidism due to dyshormonogenesis 2B|TDH2B|genetic defect in thyroid hormonogenesis 2B	http://purl.obolibrary.org/obo/MONDO_0010134	https://omim.org/entry/274600|UMLS:C0271829|NCIT:C121745|http://identifiers.org/mesh/C536648|Orphanet:705|http://identifiers.org/snomedct/70348004|DOID:0060744	ordo_malformation_syndrome|clingen
MONDO:0009152	biolink:Disease	ectopia lentis 2, isolated, autosomal recessive	An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.	GARD:0002060|UMLS:C3541474|OMIM:225100|DOID:0111149	mondo.json	ectopia lentis, isolated autosomal recessive|autosomal recessive isolated ectopia lentis|ECTOL2|ectopia lentis, isolated, autosomal recessive|autosomal recessive isolated ectopia lentis 2|ectopia lentis 2, isolated, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009152	https://omim.org/entry/225100|DOID:0111149|UMLS:C3541474	
MONDO:0012793	biolink:Disease	hypouricemia, renal, 2		UMLS:C2677549|MESH:C567426|OMIM:612076	mondo.json	gout susceptibility 2|hypouricemia, renal, type 2|hypouricemia, renal, 2|RHUC2|uric acid concentration, serum, QTL 2|uric acid concentration, serum, quantitative trait locus 2	http://purl.obolibrary.org/obo/MONDO_0012793	UMLS:C2677549|http://identifiers.org/mesh/C567426|https://omim.org/entry/612076	
MONDO:0009151	biolink:Disease	cleft lip/palate-ectodermal dysplasia syndrome	An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.	NCIT:C122656|OMIM:225060|SCTID:716248001|Orphanet:320317|DOID:0080400|Orphanet:3253|DOID:0060773|GARD:0000375|UMLS:CN229116|GARD:0001045|Orphanet:1991	mondo.json	ectodermal dysplasia, margarita Island type|orofacial cleft 7|Zlotogora-Zilberman-Tenenbaum syndrome|margarita type of ectodermal dysplasia|ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly|ectodermal dysplasia, cleft lip and palate, intellectual disability, and syndactyly|cleft lip/palate-syndactyly-pili torti syndrome|ectodermal dysplasia, type 4|Zlotogora-Ogur syndrome|ectodermal dysplasia type 4|syndactyly-ectodermal dysplasia-cleft/lip palate|cleft lip/palate-syndactyly-pili torti|cleft lip/palate-ectodermal dysplasia syndrome|cleft lip with or without cleft palate, nonsyndromic, 7|Bustos Simosa pinto Cisternas syndrome|CLPED1|ectodermal dysplasia margarita island type|autosomal recessive ectodermal dysplasia|cleft lip-palate-ectodermal dysplasia syndrome|CLEPD|Zlotogora syndrome|ED4	http://purl.obolibrary.org/obo/MONDO_0009151	http://identifiers.org/snomedct/716248001|UMLS:CN229116|DOID:0060773|Orphanet:3253|NCIT:C122656|https://omim.org/entry/225060|DOID:0080400|Orphanet:320317	gard_rare|disease_grouping|ordo_malformation_syndrome|ordo_group_of_disorders
MONDO:0010133	biolink:Disease	thyroid dyshormonogenesis 2A	Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase.	MESH:C563206|NCIT:C121750|ICD9:277.6|SCTID:124204003|UMLS:C1291299|OMIM:274500	mondo.json	thyroid dyshormonogenesis type 2A|thyroid hormonogenesis, genetic defect in, 2A|thyroid peroxidase deficiency|iodide peroxidase deficiency|familial thyroid dyshormonogenesis caused by mutation in TPO|TPO familial thyroid dyshormonogenesis|TDH2A|thyroid dyshormonogenesis 2A|hypothyroidism, congenital, due to dyshormonogenesis, 2A	http://purl.obolibrary.org/obo/MONDO_0010133	https://omim.org/entry/274500|NCIT:C121750|http://identifiers.org/mesh/C563206|http://identifiers.org/snomedct/124204003|UMLS:C1291299	
MONDO:0012794	biolink:Disease	ANE syndrome	ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.	MESH:C567425|Orphanet:157954|OMIM:612079|UMLS:C2677535	mondo.json	alopecia-progressive neurological defect-endocrinopathy syndrome|alopecia, neurologic defects, and endocrinopathy syndrome|anes|ANE syndrome	http://purl.obolibrary.org/obo/MONDO_0012794	UMLS:C2677535|http://identifiers.org/mesh/C567425|https://omim.org/entry/612079|Orphanet:157954	ordo_disease
MONDO:0012799	biolink:Disease	hypertrophic cardiomyopathy 11	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.	UMLS:C2677506|MESH:C567419|DOID:0110317|OMIM:612098	mondo.json	hypertrophic cardiomyopathy caused by mutation in ACTC1|cardiomyopathy, familial hypertrophic, 11|hypertrophic cardiomyopathy 11|CMH11|cardiomyopathy, hypertrophic, 11|cardiomyopathy familial hypertrophic 11|ACTC1 hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, type 11|hypertrophic cardiomyopathy type 11	http://purl.obolibrary.org/obo/MONDO_0012799	https://omim.org/entry/612098|UMLS:C2677506|http://identifiers.org/mesh/C567419|DOID:0110317	
MONDO:0009150	biolink:Disease	hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome	Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterised by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive.	MESH:C565604|Orphanet:1882|GARD:0002049|SCTID:239050000|OMIM:225050	mondo.json	ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia|HEDH syndrome|hypohidrotic ectodermal dysplasia with hypothyroidism|hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia|hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia|another syndrome|ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia	http://purl.obolibrary.org/obo/MONDO_0009150	http://identifiers.org/snomedct/239050000|https://omim.org/entry/225050|Orphanet:1882|http://identifiers.org/mesh/C565604	gard_rare|ordo_malformation_syndrome
MONDO:0010136	biolink:Disease	thyroid dyshormonogenesis 4	Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene.	SCTID:17885001|MESH:C562770|OMIM:274800|UMLS:C0342195	mondo.json	thyroid hormonogenesis, genetic defect in, 4|iodotyrosine dehalogenase deficiency|deiodinase deficiency|thyroid dyshormonogenesis 4|TDH4|hypothyroidism, congenital, due to dyshormonogenesis, 4|familial thyroid dyshormonogenesis caused by mutation in IYD|thyroid dyshormonogenesis type 4|IYD familial thyroid dyshormonogenesis	http://purl.obolibrary.org/obo/MONDO_0010136	http://identifiers.org/mesh/C562770|http://identifiers.org/snomedct/17885001|https://omim.org/entry/274800|UMLS:C0342195	
MONDO:0010135	biolink:Disease	thyroid dyshormonogenesis 3	Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene.	SCTID:23536000|UMLS:C0342194|OMIM:274700|MESH:C562769	mondo.json	familial thyroid dyshormonogenesis caused by mutation in TG|thyroid hormonogenesis, genetic defect in, 3|thyroid dyshormonogenesis 3|TDH3|hypothyroidism, congenital, due to dyshormonogenesis, 3|thyroid dyshormonogenesis type 3|TG familial thyroid dyshormonogenesis	http://purl.obolibrary.org/obo/MONDO_0010135	http://identifiers.org/mesh/C562769|https://omim.org/entry/274700|http://identifiers.org/snomedct/23536000|UMLS:C0342194	
HP:0001997	biolink:PhenotypicFeature	Gout	Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.	SNOMEDCT_US:190828008|SNOMEDCT_US:48440001|MSH:D015210|SNOMEDCT_US:90560007|SNOMEDCT_US:170733007|MSH:D006073|UMLS:C0018099|UMLS:C0003868	mondo.json	Gouty arthritis	http://purl.obolibrary.org/obo/HP_0001997		
MONDO:0012797	biolink:Disease	otosclerosis 8		UMLS:C2677515|MESH:C567421|OMIM:612096	mondo.json	OTSC8|otosclerosis 8	http://purl.obolibrary.org/obo/MONDO_0012797	UMLS:C2677515|http://identifiers.org/mesh/C567421|https://omim.org/entry/612096	
MONDO:0010138	biolink:Disease	thyrotoxicosis	A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis.	ICD9:242.80|SCTID:90739004|ICD9:242.90|MESH:D013971|ICD9:242|NCIT:C61469|DOID:7997|EFO:0009190|UMLS:C0040156|OMIM:275000	mondo.json	GRD|GRD1|hyperthyroidism, autoimmune|thyrotoxicosis|Graves disease, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0010138	DOID:7997|http://identifiers.org/snomedct/90739004|UMLS:C0040156|http://identifiers.org/mesh/D013971|NCIT:C61469	predisposition
MONDO:0010137	biolink:Disease	thyroid dyshormonogenesis 5	Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene.	SCTID:63127008|MESH:C562771|OMIM:274900|UMLS:C0342196	mondo.json	DUOXA2 familial thyroid dyshormonogenesis|thyroid hormonogenesis, genetic defect in, 5|TDH5|thyroid dyshormonogenesis 5|hypothyroidism, congenital, due to dyshormonogenesis, 5|familial thyroid dyshormonogenesis caused by mutation in DUOXA2|thyroid dyshormonogenesis type 5	http://purl.obolibrary.org/obo/MONDO_0010137	http://identifiers.org/mesh/C562771|https://omim.org/entry/274900|http://identifiers.org/snomedct/63127008|UMLS:C0342196	
MONDO:0012798	biolink:Disease	deafness, unilateral, with delayed endolymphatic hydrops		UMLS:C2677512|MESH:C567420|OMIM:612097	mondo.json	deafness, unilateral, with delayed endolymphatic hydrops	http://purl.obolibrary.org/obo/MONDO_0012798	UMLS:C2677512|http://identifiers.org/mesh/C567420|https://omim.org/entry/612097	
MONDO:0022109	biolink:Disease	obsolete catatrichy		OMIM:116850|GARD:0010080|UMLS:C1861799|MESH:C535346	mondo.json	forelock	http://purl.obolibrary.org/obo/MONDO_0022109	https://omim.org/entry/116850|UMLS:C1861799|http://identifiers.org/mesh/C535346	
MONDO:0012791	biolink:Disease	mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.	MESH:C567624|Orphanet:1933|DOID:0080124|OMIM:612073|GARD:0003681	mondo.json	mitochondrial DNA depletion syndrome type 5|MTDPS5|mitochondrial DNA depletion syndrome 5|encephalomyopathy|mitochondrial DNA depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, Sucla2-related|mitochondrial encephalomyopathy aminoacidopathy|mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria|mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)|booth-Haworth-Dilling syndrome|mitochondrial encephalomyopathy-aminoacidopathy syndrome|mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0012791	DOID:0080124|http://identifiers.org/mesh/C567624|Orphanet:1933|https://omim.org/entry/612073	gard_rare|ordo_disease
MONDO:0012792	biolink:Disease	mitochondrial DNA depletion syndrome 8a	Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene.	SCTID:765100000|Orphanet:298|DOID:0080127|Orphanet:255235|OMIM:612075|GARD:0013200	mondo.json	mitochondrial DNA depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive|mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy|Mngie, Rrm2B-related|mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)|RRM2B-related mitochondrial DNA depletion syndrome|RRM2B mitochondrial DNA depletion syndrome|mitochondrial neurogastrointestinal encephalopathy syndrome, Rrm2B-related|mitochondrial DNA depletion syndrome 8B (Mngie type)|mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy|encephalomyopathic type with renal tubulopathy|mitochondrial DNA depletion syndrome type 8a|MTDPS8A|mitochondrial DNA depletion syndrome caused by mutation in RRM2B	http://purl.obolibrary.org/obo/MONDO_0012792	DOID:0080127|Orphanet:255235|http://identifiers.org/snomedct/765100000|https://omim.org/entry/612075	ordo_disease
NCBITaxon:1658400	biolink:OrganismalEntity	Hectopsyllidae		GC_ID:1	mondo.json	Tunginae|Tungidae	http://purl.obolibrary.org/obo/NCBITaxon_1658400		
MONDO:0010130	biolink:Disease	dihydropyrimidine dehydrogenase deficiency	Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner.	GARD:0000019|MESH:D054067|ICD9:277.2|OMIM:274270|Orphanet:1675|DOID:14218|UMLS:C1959620|SCTID:77365006|NCIT:C84672|MedDRA:10052622	mondo.json	hereditary thymine-uraciluria|DYPD deficiency|familial pyrimidinaemia|thymine-Uraciluria, hereditary|dihydropyrimidine dehydrogenase deficiency|thymine-uracilurea|Dpyd deficiency|dihydrouracil dehydrogenase deficiency|DPD deficiency|5-fluorouracil toxicity|pyrimidinemia, familial|familial pyrimidinemia	http://purl.obolibrary.org/obo/MONDO_0010130	http://identifiers.org/snomedct/77365006|http://identifiers.org/mesh/D054067|Orphanet:1675|DOID:14218|UMLS:C1959620|https://omim.org/entry/274270|NCIT:C84672	ordo_disease|gard_rare
MONDO:0012790	biolink:Disease	amyotrophic lateral sclerosis type 10	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TARDBP gene.	OMIM:612069|DOID:0060201|GARD:0010497|UMLS:C3502417|MESH:C567429	mondo.json	amyotrophic lateral sclerosis type 10|amyotrophic lateral sclerosis 10, with or without FTD|Ftld-TDP, Tardbp-related|amyotrophic lateral sclerosis 10, with or without frontotemporal dementia|frontotemporal lobar degeneration, TARDBP-related|ALS10|amyotrophic lateral sclerosis 10|frontotemporal lobar Degeneration with Tdp43 inclusions, Tardbp-related|TARDBP-related frontotemporal lobar degeneration with Tdp43 inclusions|frontotemporal dementia with Tdp43 inclusions, Tardbp-related|TARDBP amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 10 with or without frontotemporal dementia|amyotrophic lateral sclerosis caused by mutation in TARDBP	http://purl.obolibrary.org/obo/MONDO_0012790	http://identifiers.org/mesh/C567429|UMLS:C3502417|DOID:0060201|https://omim.org/entry/612069	gard_rare
GO:0051119	biolink:NamedThing	sugar transmembrane transporter activity	Enables the transfer of a sugar from one side of a membrane to the other. A sugar is any member of a class of sweet, water-soluble, crystallizable carbohydrates, which are the monosaccharides and smaller oligosaccharides.		mondo.json	sugar/polyol channel activity	http://purl.obolibrary.org/obo/GO_0051119		
MONDO:0000711	biolink:Disease	obsolete amyotrophic lateral sclerosis type 13			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000711		
MONDO:0000710	biolink:Disease	gastroduodenal Crohn disease	An inflammatory bowel disease characterized by inflammation located in stomach and located in duodenum, has symptom nausea, has symptom vomiting, has symptom weight loss and has symptom loss of appetite.	DOID:0060191	mondo.json	upper GI Crohn's disease|gastroduodenal Crohn's disease	http://purl.obolibrary.org/obo/MONDO_0000710	DOID:0060191	
HGNC:4208	biolink:NamedThing	GCSH			mondo.json		http://identifiers.org/hgnc/4208		
HGNC:11714	biolink:NamedThing	TEAD1			mondo.json		http://identifiers.org/hgnc/11714		
HGNC:11720	biolink:NamedThing	TECTA			mondo.json		http://identifiers.org/hgnc/11720		
MONDO:0000709	biolink:Disease	Crohn ileitis	An Crohn disease involving a pathogenic inflammatory response in the ileum.	NCIT:C35329|MedDRA:10021312|NDFRT:N0000001662|UMLS:C0020877|SCTID:52457000|MESH:D007079|CSP:1248-5305|DOID:0060189|ICD9:558.9	mondo.json	Crohn's ileitis|ileitis	http://purl.obolibrary.org/obo/MONDO_0000709	DOID:0060189|http://identifiers.org/snomedct/52457000|UMLS:C0020877|NCIT:C35329|http://identifiers.org/mesh/D007079	
UBERON:0035956	biolink:AnatomicalEntity	epididymal lumen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035956		
MONDO:0012700	biolink:Disease	renal tubular acidosis, distal, 4, with hemolytic anemia	Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia.	Orphanet:93610|UMLS:C1969038|OMIM:611590	mondo.json	renal tubular acidosis, distal, with hemolytic anemia|dRTA with anemia|distal renal tubular acidosis with anemia|distal renal tubular acidosis 4 with hemolytic anemia|RTA, distal, autosomal recessive, with hemolytic Anemia|renal tubular acidosis, distal, with normal Red cell morphology	http://purl.obolibrary.org/obo/MONDO_0012700	https://omim.org/entry/611590|UMLS:C1969038|Orphanet:93610	ordo_clinical_subtype
HGNC:11724	biolink:NamedThing	TEK			mondo.json		http://identifiers.org/hgnc/11724		
MONDO:0012701	biolink:Disease	cataract 12 multiple types	A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.	OMIM:611597|Orphanet:91492|Orphanet:98992|DOID:0110239|MESH:C566909	mondo.json	cataract 12, multiple types|CTRCT12	http://purl.obolibrary.org/obo/MONDO_0012701	https://omim.org/entry/611597|http://identifiers.org/mesh/C566909|DOID:0110239	
MONDO:0000704	biolink:Disease	lymphocytic colitis	Microscopic colitis characterized by the accumulation of lymphocytes in the colonic epithelium and lamina propria. Patients present with chronic watery diarrhea. Colonoscopy reveals normal colonic mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples.	DOID:0060184|UMLS:C0400822|MedDRA:10025268|GARD:0006939|ICD10CM:K52.832|SCTID:31437008|MESH:D046730|NCIT:C27147|ICD9:558.9|EFO:1001294|Orphanet:65279	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000704	http://identifiers.org/snomedct/31437008|http://identifiers.org/mesh/D046730|http://purl.bioontology.org/ontology/ICD10CM/K52.832|UMLS:C0400822|DOID:0060184|NCIT:C27147|Orphanet:65279	
HGNC:4218	biolink:NamedThing	GDF3			mondo.json		http://identifiers.org/hgnc/4218		
MONDO:0000703	biolink:Disease	collagenous colitis	A type of microscopic colitis of unknown etiology. It is characterized by the presence of collagen deposits in the lamina propria of the colonic mucosa. Patients present with chronic watery diarrhea. Colonoscopy reveals normal-appearing mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples.	NCIT:C27021|GARD:0006135|DOID:0060183|ICD10CM:K52.831|UMLS:C0238067|MedDRA:10048928|ICD9:558.9|Orphanet:36205|MESH:D046729|SCTID:19311003|EFO:1001293	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000703	http://purl.bioontology.org/ontology/ICD10CM/K52.831|http://identifiers.org/mesh/D046729|UMLS:C0238067|NCIT:C27021|http://identifiers.org/snomedct/19311003|DOID:0060183	
GO:0004807	biolink:NamedThing	triose-phosphate isomerase activity	Catalysis of the reaction: D-glyceraldehyde 3-phosphate = glycerone phosphate.		mondo.json	D-glyceraldehyde-3-phosphate ketol-isomerase activity|triose phosphate mutase activity|triosephosphate isomerase activity|D-glyceraldehyde-3-phosphate aldose-ketose-isomerase activity|triose phosphoisomerase activity|triosephosphate mutase activity|phosphotriose isomerase activity	http://purl.obolibrary.org/obo/GO_0004807		
HGNC:4217	biolink:NamedThing	GDF2			mondo.json		http://identifiers.org/hgnc/4217		
MONDO:0000702	biolink:Disease	microscopic colitis	Inflammation of the colon that is only apparent by microscopic examination.	MESH:D046728|DOID:0060182|UMLS:C0400821|Orphanet:58220|NCIT:C38504|SCTID:235753003|ICD9:558.9|EFO:1001295	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000702	http://identifiers.org/mesh/D046728|NCIT:C38504|UMLS:C0400821|http://identifiers.org/snomedct/235753003|DOID:0060182	
MONDO:0000701	biolink:Disease	ischemic colitis	Inflammation of the colon due to colonic ischemia resulting from alterations in systemic circulation or local vasculature.	DOID:0060181|MESH:D017091|UMLS:C0162529|SCTID:30588004	mondo.json	colonic ischemia	http://purl.obolibrary.org/obo/MONDO_0000701	UMLS:C0162529|http://identifiers.org/snomedct/30588004|DOID:0060181|http://identifiers.org/mesh/D017091	
UBERON:0008342	biolink:AnatomicalEntity	intestinal villus of duodenum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008342		
MONDO:0000708	biolink:Disease	Crohn jejunoileitis		DOID:0060188	mondo.json	jejunoileitis	http://purl.obolibrary.org/obo/MONDO_0000708	DOID:0060188	
HGNC:4214	biolink:NamedThing	GDF1			mondo.json		http://identifiers.org/hgnc/4214		
UBERON:0008343	biolink:AnatomicalEntity	intestinal villus of jejunum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008343		
MONDO:0000707	biolink:Disease	diversion colitis	A colitis which can occur as a complication of ileostomy or colostomy.	SCTID:51290000|ICD9:558.9|UMLS:C0267532|ICD9:558|DOID:0060187	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000707	UMLS:C0267532|http://identifiers.org/snomedct/51290000|DOID:0060187	
UBERON:0008344	biolink:AnatomicalEntity	intestinal villus of ileum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008344		
MONDO:0000706	biolink:Disease	chemical colitis	A colitis caused by the introduction of harsh chemicals to the colon by an enema or other procedure. Chemical colitis can resemble ulcerative colitis, infectious colitis and pseudomembranous colitis endoscopically.	ICD9:558.9|SCTID:72965009|ICD9:558|DOID:0060186	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000706	http://identifiers.org/snomedct/72965009|DOID:0060186	
UBERON:0008345	biolink:AnatomicalEntity	ileal epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008345		
MONDO:0000705	biolink:Disease	Clostridium difficile colitis	A bacterial infection of the colon secondary to infection with Clostridium difficile bacteria. This infection generally results from the loss of normal gut flora secondary to recent antibiotic use, and manifests as copious watery stools, with associated abdominal pain and myalgia. C. difficile is the most common cause of pseudomembranous colitis, and can progress to toxic megacolon if left untreated.	DOID:0060185|EFO:0009130|MedDRA:10009657|SCTID:423590009|MESH:D004761|NCIT:C35286	mondo.json	C. diff infection|pseudomembranous colitis|Clostridioides difficile colitis (disease)|Clostridium difficile infection|Clostridioides difficile caused colitis (disease)|C. diff colitis	http://purl.obolibrary.org/obo/MONDO_0000705	http://identifiers.org/mesh/D004761|NCIT:C35286|DOID:0060185|http://identifiers.org/snomedct/423590009	
UBERON:0008346	biolink:AnatomicalEntity	duodenal epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008346		
MONDO:0000722	biolink:Disease	non-syndromic synpolydactyly	A synpolydactyly that is not part of a larger syndrome.	NCIT:C75003|DOID:0060242|MESH:C538153	mondo.json	nonsyndromic synpolydactyly|synpolydactyly|isolated synpolydactyly	http://purl.obolibrary.org/obo/MONDO_0000722	DOID:0060242	
MONDO:0000721	biolink:Disease	xanthinuria	A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine.	ICD9:277.2|SCTID:190919008	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000721	http://identifiers.org/snomedct/190919008	
GO:0051128	biolink:NamedThing	regulation of cellular component organization	Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope.		mondo.json	regulation of cellular component organisation|regulation of cell organisation|regulation of cellular component organization and biogenesis|regulation of cell organization	http://purl.obolibrary.org/obo/GO_0051128		
MONDO:0000720	biolink:Disease	obsolete basal ganglia calcification			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000720		
GO:0051129	biolink:NamedThing	negative regulation of cellular component organization	Any process that stops, prevents, or reduces the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope.		mondo.json	negative regulation of cellular component organization and biogenesis|negative regulation of cell organisation|down-regulation of cell organization|down regulation of cell organization|inhibition of cell organization|downregulation of cell organization	http://purl.obolibrary.org/obo/GO_0051129		
UBERON:0011980	biolink:AnatomicalEntity	crurotarsal joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011980		
CHEBI:26155	biolink:ChemicalSubstance	plant growth regulator	A chemical, natural or artificial, that can affect the rate of growth of a plant.		mondo.json	plant growth regulators	http://purl.obolibrary.org/obo/CHEBI_26155		
HGNC:11727	biolink:NamedThing	TERC			mondo.json		http://identifiers.org/hgnc/11727		
CHEBI:26151	biolink:ChemicalSubstance	piperidines			mondo.json		http://purl.obolibrary.org/obo/CHEBI_26151		
HGNC:4221	biolink:NamedThing	GDF6			mondo.json		http://identifiers.org/hgnc/4221		
UBERON:0011977	biolink:AnatomicalEntity	epiphysis of proximal phalanx of manus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011977		
UBERON:0035965	biolink:AnatomicalEntity	wall of blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035965		
HGNC:11730	biolink:NamedThing	TERT			mondo.json		http://identifiers.org/hgnc/11730		
HGNC:4220	biolink:NamedThing	GDF5			mondo.json		http://identifiers.org/hgnc/4220		
UBERON:0008337	biolink:AnatomicalEntity	inguinal part of abdomen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008337		
UBERON:0011976	biolink:AnatomicalEntity	epiphysis of distal phalanx of pes			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011976		
UBERON:0011975	biolink:AnatomicalEntity	epiphysis of middle phalanx of pes			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011975		
UBERON:0008338	biolink:AnatomicalEntity	plantar part of pes			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008338		
UBERON:0008339	biolink:AnatomicalEntity	microvascular endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008339		
UBERON:0011974	biolink:AnatomicalEntity	epiphysis of proximal phalanx of pes			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011974		
HGNC:6888	biolink:NamedThing	MAPKAPK3			mondo.json		http://identifiers.org/hgnc/6888		
UBERON:0011979	biolink:AnatomicalEntity	epiphysis of distal phalanx of manus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011979		
HGNC:11733	biolink:NamedThing	TEX11			mondo.json		http://identifiers.org/hgnc/11733		
UBERON:0011978	biolink:AnatomicalEntity	epiphysis of middle phalanx of manus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011978		
MONDO:0000715	biolink:Disease	lymph node adenoid cystic carcinoma	A adenoid cystic carcinoma that involves the lymph node.	DOID:0060219	mondo.json	lymph node adenoid cystic cancer|lymph node adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0000715	DOID:0060219	
MONDO:0000714	biolink:Disease	obsolete crest syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000714		
MONDO:0000713	biolink:Disease	obsolete Balo concentric sclerosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000713		
MONDO:0000712	biolink:Disease	obsolete FTDALS			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000712		
HGNC:4226	biolink:NamedThing	GDI1			mondo.json		http://identifiers.org/hgnc/4226		
UBERON:0008331	biolink:AnatomicalEntity	clitoral smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008331		
MONDO:0000719	biolink:Disease	obsolete Baraitser-winter syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000719		
MONDO:0000718	biolink:Disease	obsolete Adams-Oliver syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000718		
MONDO:0000717	biolink:Disease	obsolete acrofrontofacionasal dysostosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000717		
HGNC:6882	biolink:NamedThing	MAPK8IP1			mondo.json		http://identifiers.org/hgnc/6882		
HGNC:4223	biolink:NamedThing	MSTN			mondo.json		http://identifiers.org/hgnc/4223		
MONDO:0000716	biolink:Disease	agraphia	An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell.	DOID:0060223|MESH:D000381	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000716	http://identifiers.org/mesh/D000381|DOID:0060223	
UBERON:0011973	biolink:AnatomicalEntity	epiphysis of phalanx of pes			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011973		
UBERON:0011972	biolink:AnatomicalEntity	medial ligament of ankle joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011972		
UBERON:0011971	biolink:AnatomicalEntity	calcaneofibular ligament			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011971		
GO:1905553	biolink:NamedThing	regulation of blood vessel branching	Any process that modulates the frequency, rate or extent of blood vessel branching.		mondo.json	regulation of branching involved in blood vessel morphogenesis	http://purl.obolibrary.org/obo/GO_1905553		
HGNC:4232	biolink:NamedThing	GDNF			mondo.json		http://identifiers.org/hgnc/4232		
CHEBI:38106	biolink:ChemicalSubstance	organosulfur heterocyclic compound			mondo.json	organosulfur heterocyclic compounds|heterocyclic organosulfur compounds	http://purl.obolibrary.org/obo/CHEBI_38106		
NCBITaxon:2044726	biolink:OrganismalEntity	Dioctophymatida		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2044726		
CHEBI:38104	biolink:ChemicalSubstance	oxacycle	Any organic heterocyclic compound containing at least one ring oxygen atom.		mondo.json	oxacycles|heterocyclic organooxygen compounds|organooxygen heterocyclic compounds	http://purl.obolibrary.org/obo/CHEBI_38104		
HGNC:6898	biolink:NamedThing	MARS1			mondo.json		http://identifiers.org/hgnc/6898		
UBERON:0011968	biolink:AnatomicalEntity	radio-carpal joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011968		
GO:0051130	biolink:NamedThing	positive regulation of cellular component organization	Any process that activates or increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope.		mondo.json	positive regulation of cell organisation|up-regulation of cell organization|up regulation of cell organization|activation of cell organization|stimulation of cell organization|upregulation of cell organization|positive regulation of cellular component organization and biogenesis	http://purl.obolibrary.org/obo/GO_0051130		
HGNC:4238	biolink:NamedThing	GFI1B			mondo.json		http://identifiers.org/hgnc/4238		
HGNC:4237	biolink:NamedThing	GFI1			mondo.json		http://identifiers.org/hgnc/4237		
HGNC:4236	biolink:NamedThing	GFER			mondo.json		http://identifiers.org/hgnc/4236		
HGNC:6891	biolink:NamedThing	MAPRE2			mondo.json		http://identifiers.org/hgnc/6891		
HGNC:4235	biolink:NamedThing	GFAP			mondo.json		http://identifiers.org/hgnc/4235		
CHEBI:38101	biolink:ChemicalSubstance	organonitrogen heterocyclic compound	Any organonitrogen compound containing a cyclic component with nitrogen and at least one other element as ring member atoms.		mondo.json	organonitrogen heterocyclic compounds|heterocyclic organonitrogen compounds	http://purl.obolibrary.org/obo/CHEBI_38101		
HGNC:6893	biolink:NamedThing	MAPT			mondo.json		http://identifiers.org/hgnc/6893		
UBERON:0008324	biolink:AnatomicalEntity	erectile tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008324		
GO:0051148	biolink:NamedThing	negative regulation of muscle cell differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of muscle cell differentiation.		mondo.json	inhibition of muscle cell differentiation|downregulation of muscle cell differentiation|down-regulation of muscle cell differentiation|down regulation of muscle cell differentiation	http://purl.obolibrary.org/obo/GO_0051148		
GO:0051149	biolink:NamedThing	positive regulation of muscle cell differentiation	Any process that activates or increases the frequency, rate or extent of muscle cell differentiation.		mondo.json	up-regulation of muscle cell differentiation|up regulation of muscle cell differentiation|activation of muscle cell differentiation|stimulation of muscle cell differentiation|upregulation of muscle cell differentiation	http://purl.obolibrary.org/obo/GO_0051149		
GO:0051146	biolink:NamedThing	striated muscle cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a striated muscle cell; striated muscle fibers are divided by transverse bands into striations, and cardiac and voluntary muscle are types of striated muscle.		mondo.json	voluntary muscle cell differentiation	http://purl.obolibrary.org/obo/GO_0051146		
GO:0051147	biolink:NamedThing	regulation of muscle cell differentiation	Any process that modulates the frequency, rate or extent of muscle cell differentiation.		mondo.json		http://purl.obolibrary.org/obo/GO_0051147		
MONDO:0000700	biolink:Disease	familial hemiplegic migraine	A migraine disorder characterized by individual and family history of aura that includes motor weakness.	Orphanet:569|OMIMPS:141500|NCIT:C117009|GARD:0010975|ICD9:346.8|DOID:0060178|SCTID:95656000	mondo.json	FHM|familial hemiplegic migraine|hereditary hemiplegic migraine|hemiplegic-ophthalmoplegic migraine|hemiplegic migraine, familial	http://purl.obolibrary.org/obo/MONDO_0000700	NCIT:C117009|https://omim.org/phenotypicSeries/PS141500|http://identifiers.org/snomedct/95656000|DOID:0060178	
HGNC:11708	biolink:NamedThing	TDO2			mondo.json		http://identifiers.org/hgnc/11708		
UBERON:0011960	biolink:AnatomicalEntity	articular capsule of glenohumeral joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011960		
GO:1905554	biolink:NamedThing	negative regulation of vessel branching	Any process that stops, prevents or reduces the frequency, rate or extent of blood vessel branching.		mondo.json	downregulation of patterning of blood vessels|downregulation of branching involved in blood vessel morphogenesis|down regulation of branching involved in blood vessel morphogenesis|inhibition of branching involved in blood vessel morphogenesis|down-regulation of patterning of blood vessels|negative regulation of branching involved in blood vessel morphogenesis|down-regulation of branching involved in blood vessel morphogenesis|down regulation of patterning of blood vessels|inhibition of patterning of blood vessels	http://purl.obolibrary.org/obo/GO_1905554		
UBERON:0011955	biolink:AnatomicalEntity	left hepatic vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011955		
GO:1905555	biolink:NamedThing	positive regulation of blood vessel branching	Any process that activates or increases the frequency, rate or extent of blood vessel branching.		mondo.json	up regulation of branching involved in blood vessel morphogenesis|up-regulation of patterning of blood vessels|up regulation of patterning of blood vessels|up-regulation of branching involved in blood vessel morphogenesis|activation of branching involved in blood vessel morphogenesis|activation of patterning of blood vessels|upregulation of patterning of blood vessels|upregulation of branching involved in blood vessel morphogenesis|positive regulation of branching involved in blood vessel morphogenesis	http://purl.obolibrary.org/obo/GO_1905555		
HGNC:4241	biolink:NamedThing	GFPT1			mondo.json		http://identifiers.org/hgnc/4241		
UBERON:0011953	biolink:AnatomicalEntity	stomach glandular region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011953		
UBERON:0011956	biolink:AnatomicalEntity	right hepatic vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011956		
UBERON:0008310	biolink:AnatomicalEntity	nasopharyngeal gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008310		
HGNC:4247	biolink:NamedThing	GGCX			mondo.json		http://identifiers.org/hgnc/4247		
NCBITaxon:90964	biolink:OrganismalEntity	Staphylococcaceae		GC_ID:11	mondo.json	Staphylococcus group	http://purl.obolibrary.org/obo/NCBITaxon_90964		
MONDO:0000751	biolink:Disease	cervical polyp	A polyp that arises from the surface of the cervix.	UMLS:C0007855|UMLS:C0347493|SCTID:65576009|ICD9:219|HP:0030159|DOID:0060325|NCIT:C2939	mondo.json	polyp of cervix|adenomatous polyp of cervix|cervical polyp|polyp of the cervix|adenomatous polyp of the cervix|polyp of cervix uteri|adenomatous polyp of uterine cervix|polyp of uterine cervix|polyp of the cervix uteri|adenomatous polyp of the uterine cervix|polyp of the uterine cervix|uterine cervix polyp|cervical polyp (disease)|cervix polyp|cervix adenomatous polyp|cervix uteri adenomatous polyp|cervix uteri polyp|uterine cervix adenomatous polyp	http://purl.obolibrary.org/obo/MONDO_0000751	DOID:0060325|UMLS:C0007855|http://identifiers.org/snomedct/65576009|UMLS:C0347493|NCIT:C2939	
MONDO:0000750	biolink:Disease	dental abscess	A tooth disease characterized by a localized collection of pus associated with a tooth.	SCTID:299709002|DOID:0060324|UMLS:C0518988	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000750	DOID:0060324|UMLS:C0518988|http://identifiers.org/snomedct/299709002	
HP:0001929	biolink:PhenotypicFeature	Reduced factor XI activity	Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX.	UMLS:C0015523|MSH:D005173|SNOMEDCT_US:49762007	mondo.json	Low factor XI activity|Factor XI deficiency	http://purl.obolibrary.org/obo/HP_0001929		
MONDO:0000755	biolink:Disease	ectopic pregnancy	An abnormal pregnancy in which the conception is implanted outside the endometrial cavity.	GARD:0006318|ICD9:633.90|ICD9:633.8|MESH:D011271|DOID:0060329|NCIT:C34945|ICD9:633.9|ICD9:633|SCTID:34801009	mondo.json	extrauterine pregnancy|pregnancy, ectopic|eccyesis	http://purl.obolibrary.org/obo/MONDO_0000755	http://identifiers.org/snomedct/34801009|http://identifiers.org/mesh/D011271|NCIT:C34945|DOID:0060329	gard_rare
MONDO:0000754	biolink:Disease	anal fistula	A pathologic tract that connects an opening in the anal canal to the perianal skin. In the vast majority of cases there is a history of perianal abscess.	SCTID:72779005|HP:0010447|NCIT:C60785|ICD10CM:K60.3|Orphanet:228113|DOID:0060328|MESH:D012003	mondo.json	anorectal fistula|anal fistula|anal fistula (disease)	http://purl.obolibrary.org/obo/MONDO_0000754	DOID:0060328|NCIT:C60785|Orphanet:228113|http://purl.bioontology.org/ontology/ICD10CM/K60.3|http://identifiers.org/snomedct/72779005|http://identifiers.org/mesh/D012003	
MONDO:0000753	biolink:Disease	obsolete omphalocele			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000753		
MONDO:0000752	biolink:Disease	obsolete myelomeningocele			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000752		
MONDO:0012737	biolink:Disease	long QT syndrome 10	Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene.	Orphanet:101016|MESH:C567514|OMIM:611819|UMLS:C2678484|DOID:0110651|Orphanet:334|GARD:0010436	mondo.json	long QT syndrome type 10|atrial fibrillation, familial, 17|long QT syndrome 10|long QT syndrome caused by mutation in SCN4B|LQT10|SCN4B long QT syndrome	http://purl.obolibrary.org/obo/MONDO_0012737	https://omim.org/entry/611819|http://identifiers.org/mesh/C567514|DOID:0110651|UMLS:C2678484	gard_rare
MONDO:0012738	biolink:Disease	long QT syndrome 11	Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene.	OMIM:611820|MESH:C567513|UMLS:C2678483|Orphanet:101016|DOID:0110652|GARD:0010437	mondo.json	long QT syndrome caused by mutation in AKAP9|LQT11|long QT syndrome type 11|long QT syndrome 11|AKAP9 long QT syndrome	http://purl.obolibrary.org/obo/MONDO_0012738	https://omim.org/entry/611820|http://identifiers.org/mesh/C567513|DOID:0110652|UMLS:C2678483	gard_rare
HP:0001924	biolink:PhenotypicFeature	Sideroblastic anemia	Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining).	MSH:D000756|SNOMEDCT_US:41841004|UMLS:C0002896	mondo.json	Hypersideremic anaemia|Sideroblastic anaemia|Hypersideremic anemia	http://purl.obolibrary.org/obo/HP_0001924		
MONDO:0012735	biolink:Disease	Temple-Baraitser syndrome	A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.	EFO:0009062|GARD:0009441|Orphanet:420561|UMLS:C2678486|OMIM:611816|MESH:C567516	mondo.json	severe mental retardation and absent nails of hallux and pollex|severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome|intellectual disability, severe, and absent nails of hallux and pollex|severe intellectual disability and absent nails of hallux and pollex|TMBTS|Temple-Baraitser syndrome|mental retardation, severe, and absent nails of hallux and pollex	http://purl.obolibrary.org/obo/MONDO_0012735	Orphanet:420561|UMLS:C2678486|https://omim.org/entry/611816|http://identifiers.org/mesh/C567516	ordo_disease
NCBITaxon:652611	biolink:OrganismalEntity	Pseudomonas aeruginosa PA14		GC_ID:11	mondo.json	Pseudomonas aeruginosa str. PA14|Pseudomonas aeruginosa strain PA14	http://purl.obolibrary.org/obo/NCBITaxon_652611		
MONDO:0012736	biolink:Disease	long QT syndrome 9	Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene.	DOID:0110650|OMIM:611818|MESH:C567515|GARD:0010435|Orphanet:101016	mondo.json	long QT syndrome type 9|long QT syndrome 9|CAV3 long QT syndrome|long QT syndrome caused by mutation in CAV3|long QT syndrome 2/9, digenic|LQT9|long QT syndrome 9, acquired, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0012736	http://identifiers.org/mesh/C567515|DOID:0110650|https://omim.org/entry/611818	gard_rare
HP:0001927	biolink:PhenotypicFeature	Acanthocytosis	Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.	SNOMEDCT_US:250249008|UMLS:C0687751	mondo.json	Acanthocytes|Red cell acanthocytosis	http://purl.obolibrary.org/obo/HP_0001927		hposlim_core
HP:0001928	biolink:PhenotypicFeature	Abnormality of coagulation	An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.	SNOMEDCT_US:362970003|MSH:D006474|UMLS:C1846821|SNOMEDCT_US:64779008|MSH:D001778|UMLS:C0019087|UMLS:C0005779	mondo.json	Abnormal blood coagulation studies|Blood coagulation disorder|Coagulation abnormality|Coagulation abnormalities|Haemorrhagic disorders	http://purl.obolibrary.org/obo/HP_0001928		
MONDO:0012739	biolink:Disease	microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome	This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.	UMLS:C2678482|OMIM:611863|MESH:C567512|GARD:0010300|Orphanet:139450	mondo.json	microtia eye coloboma and imperforation of the nasolacrimal duct|Balikova-Vermeesch syndrome|microtia with nasolacrimal duct imperforation and eye coloboma	http://purl.obolibrary.org/obo/MONDO_0012739	https://omim.org/entry/611863|http://identifiers.org/mesh/C567512|Orphanet:139450|UMLS:C2678482	ordo_malformation_syndrome
MONDO:0012740	biolink:Disease	chromosome 22q11.2 deletion syndrome, distal	Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.	UMLS:C4518343|OMIM:611867|UMLS:C2678480|SCTID:734029004|Orphanet:261330|DECIPHER:72|DOID:0060413|MESH:C567511	mondo.json	chromosome 22q11.2 deletion syndrome, distal|distal monosomy 22q11.2|distal del(22)(q11.2)|distal 22q11.2 microdeletion syndrome|distal chromosome 22Q11.2 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0012740	DOID:0060413|http://identifiers.org/snomedct/734029004|UMLS:C4518343|UMLS:C2678480|Orphanet:261330|https://omim.org/entry/611867|http://identifiers.org/mesh/C567511	ordo_malformation_syndrome
MONDO:0012741	biolink:Disease	prostate cancer, hereditary, 12	Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene.	MESH:C567510|OMIM:611868|UMLS:C2678479	mondo.json	prostate cancer, hereditary, 12|HPC12|EHBP1 familial prostate cancer|prostate cancer, hereditary, type 12|familial prostate cancer caused by mutation in EHBP1	http://purl.obolibrary.org/obo/MONDO_0012741	UMLS:C2678479|https://omim.org/entry/611868|http://identifiers.org/mesh/C567510	
HGNC:4250	biolink:NamedThing	GGT1			mondo.json		http://identifiers.org/hgnc/4250		
MONDO:0012744	biolink:Disease	dilated cardiomyopathy 1Y	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene.	DOID:0110457|MESH:C567507|OMIM:611878	mondo.json	dilated cardiomyopathy type 1Y|CMD1Y|cardiomyopathy, dilated, type 1Y|cardiomyopathy, dilated, 1Y|familial isolated dilated cardiomyopathy caused by mutation in TPM1|left ventricular noncompaction 9|TPM1 familial isolated dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0012744	DOID:0110457|https://omim.org/entry/611878|http://identifiers.org/mesh/C567507	
HP:0001920	biolink:PhenotypicFeature	Renal artery stenosis	The presence of stenosis of the renal artery.	UMLS:C0035067|SNOMEDCT_US:302233006|SNOMEDCT_US:282664001|MSH:D012078|Fyler:2634	mondo.json	Narrowing of kidney artery	http://purl.obolibrary.org/obo/HP_0001920		
MONDO:0012745	biolink:Disease	dilated cardiomyopathy 1Z	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.	UMLS:C2678475|DOID:0110434|OMIM:611879|MESH:C567506	mondo.json	TNNC1 familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in TNNC1|CMD1Z|dilated cardiomyopathy type 1Z|cardiomyopathy, dilated, type 1Z|cardiomyopathy, dilated, 1Z	http://purl.obolibrary.org/obo/MONDO_0012745	DOID:0110434|UMLS:C2678475|https://omim.org/entry/611879|http://identifiers.org/mesh/C567506	
MONDO:0012742	biolink:Disease	Brugada syndrome 3	Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene.	OMIM:611875|GARD:0010361|UMLS:C2678478|MESH:C567509|DOID:0110220	mondo.json	Brugada syndrome 3|CACNA1C Brugada syndrome|Brugada syndrome type 3|Brugada syndrome caused by mutation in CACNA1C|BRGDA3	http://purl.obolibrary.org/obo/MONDO_0012742	DOID:0110220|UMLS:C2678478|https://omim.org/entry/611875|http://identifiers.org/mesh/C567509	gard_rare
MONDO:0012743	biolink:Disease	Brugada syndrome 4	Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene.	GARD:0010362|DOID:0110221|MESH:C567508|UMLS:C2678477|OMIM:611876	mondo.json	Brugada syndrome caused by mutation in CACNB2|Brugada syndrome 4|CACNB2 Brugada syndrome|Brugada syndrome type 4|BRGDA4	http://purl.obolibrary.org/obo/MONDO_0012743	DOID:0110221|UMLS:C2678477|https://omim.org/entry/611876|http://identifiers.org/mesh/C567508	gard_rare
MONDO:0000748	biolink:Disease	mastoiditis	Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process.	ICD9:383.9|NCIT:C128368|SCTID:52404001|DOID:0060322|HP:0000265|UMLS:C0024904|MESH:D008417	mondo.json	mastoiditis|mastoiditis (disease)|inflammation of mastoid process of temporal bone|mastoid process of temporal bone inflammation|mastoid process of temporal boneitis	http://purl.obolibrary.org/obo/MONDO_0000748	NCIT:C128368|http://identifiers.org/mesh/D008417|DOID:0060322|UMLS:C0024904|http://identifiers.org/snomedct/52404001	
MONDO:0024715	biolink:Disease	benign synovial neoplasm	A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath.	NCIT:C3829|UMLS:C0221289|ICDO:9040/0	mondo.json	synovium neoplasm, benign|synovioma, benign|benign synovial tumor|benign tumor of synovium|benign tumor of the synovium|benign synovioma|benign synovium neoplasm|benign neoplasm of synovium|benign neoplasm of the synovium|benign synovial neoplasm	http://purl.obolibrary.org/obo/MONDO_0024715	UMLS:C0221289|NCIT:C3829	
MONDO:0000747	biolink:Disease	obsolete umbilical hernia	OBSOLETE. A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac.	NCIT:C98997|SCTID:18735004|DOID:0060321|NCIT:C118375|ICD9:553.1|ICD9:756.72|UMLS:C0019322|SCTID:396347007|UMLS:C0795690|MESH:D006554|HP:0001537	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000747	http://identifiers.org/snomedct/396347007|UMLS:C0019322|http://identifiers.org/mesh/D006554|DOID:0060321|NCIT:C118375	
MONDO:0000746	biolink:Disease	obsolete inguinal hernia	OBSOLETE. The protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region.	HP:0000023|ICD9:550.90|SCTID:396232000|MESH:D006552|DOID:0060320|NCIT:C34690|ICD9:550	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000746	NCIT:C34690|http://identifiers.org/mesh/D006552|DOID:0060320|http://identifiers.org/snomedct/396232000	
MONDO:0000745	biolink:Disease	cardiac arrest	Cessation of breathing and/or cardiac function.	ICD9:427.5|MESH:D006323|ICD10CM:I46|DOID:0060319|UMLS:C0018790|SCTID:410429000|UMLS:C0444720	mondo.json	cardiopulmonary arrest|circulatory arrest	http://purl.obolibrary.org/obo/MONDO_0000745	http://purl.bioontology.org/ontology/ICD10CM/I46|http://identifiers.org/mesh/D006323|http://identifiers.org/snomedct/410429000|DOID:0060319|UMLS:C0444720|UMLS:C0018790	
GO:0051155	biolink:NamedThing	positive regulation of striated muscle cell differentiation	Any process that activates or increases the frequency, rate or extent of striated muscle cell differentiation.		mondo.json	upregulation of striated muscle cell differentiation|up regulation of striated muscle cell differentiation|stimulation of striated muscle cell differentiation|up-regulation of striated muscle cell differentiation|activation of striated muscle cell differentiation	http://purl.obolibrary.org/obo/GO_0051155		
GO:0051153	biolink:NamedThing	regulation of striated muscle cell differentiation	Any process that modulates the frequency, rate or extent of striated muscle cell differentiation.		mondo.json		http://purl.obolibrary.org/obo/GO_0051153		
MONDO:0000749	biolink:Disease	breast abscess	A breast disease characterized by a collection of pus in the breast.	DOID:0060323|SCTID:28432003|UMLS:C0151463	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000749	UMLS:C0151463|http://identifiers.org/snomedct/28432003|DOID:0060323	
GO:0051154	biolink:NamedThing	negative regulation of striated muscle cell differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle cell differentiation.		mondo.json	inhibition of striated muscle cell differentiation|down-regulation of striated muscle cell differentiation|downregulation of striated muscle cell differentiation|down regulation of striated muscle cell differentiation	http://purl.obolibrary.org/obo/GO_0051154		
MONDO:0000762	biolink:Disease	syndrome caused by partial chromosomal duplication	A chromosomal disorder consisting of the presence of a part of a chromosome in more copies than in a regular genome.	DOID:0060429	mondo.json	chromosomal duplication syndrome|microduplication sydrome	http://purl.obolibrary.org/obo/MONDO_0000762	DOID:0060429	
MONDO:0000761	biolink:Disease	syndrome caused by partial chromosomal deletion	A chromosomal disorder consisting of the absence of a part of a chromosome.	DOID:0060388	mondo.json	microdeletion syndrome|chromosomal deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0000761	DOID:0060388	
MONDO:0000760	biolink:Disease	obsolete acrofacial dysostosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000760		
GO:0099103	biolink:NamedThing	channel activator activity	Direct interaction with a channel (binding or modification), resulting in its opening. A channel catalyzes energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel.		mondo.json	channel gating activity	http://purl.obolibrary.org/obo/GO_0099103		
MONDO:0000766	biolink:Disease	corneal endothelial dystrophy	A corneal dystrophy (disease) that involves the corneal epithelium.	DOID:0060443|SCTID:416960004|ICD9:371.57	mondo.json	endothelial dystrophy|corneal dystrophy (disease) of corneal epithelium	http://purl.obolibrary.org/obo/MONDO_0000766	DOID:0060443|http://identifiers.org/snomedct/416960004	
MONDO:0024711	biolink:Disease	malignant mixed epithelial stromal tumor of the kidney	A mixed epithelial stromal tumor of the kidney with malignant stromal features.	NCIT:C37265|UMLS:C1334602	mondo.json	malignant mixed epithelial stromal tumor of the kidney|mixed epithelial stromal tumor of the kidney, malignant|malignant MEST	http://purl.obolibrary.org/obo/MONDO_0024711	NCIT:C37265|UMLS:C1334602	
MONDO:0000765	biolink:Disease	obsolete corneal stromal dystrophy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000765		
MONDO:0000764	biolink:Disease	epithelial-stromal TGFBI dystrophy	Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene.	DOID:0060441	mondo.json	corneal dystrophy (disease) caused by mutation in TGFBI|TGFBI corneal dystrophy (disease)	http://purl.obolibrary.org/obo/MONDO_0000764	DOID:0060441	
MONDO:0000763	biolink:Disease	epithelial and subepithelial corneal dystrophy		DOID:0060440	mondo.json	epithelial and subepithelial dystrophy	http://purl.obolibrary.org/obo/MONDO_0000763	DOID:0060440	
MONDO:0012726	biolink:Disease	autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.	Orphanet:73229|OMIM:611773|SCTID:702428000|MESH:C567088|UMLS:C2673195|GARD:0010889|ICD9:758.89	mondo.json	angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps|HANAC syndrome|hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome|HANAC|hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome	http://purl.obolibrary.org/obo/MONDO_0012726	http://identifiers.org/mesh/C567088|https://omim.org/entry/611773|Orphanet:73229|http://identifiers.org/snomedct/702428000|UMLS:C2673195	ordo_disease
MONDO:0012727	biolink:Disease	mucocutaneous lymph node syndrome	Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.	Orphanet:2331|SCTID:75053002|GARD:0006816|UMLS:C0026691|MedDRA:10023320|MESH:D009080|EFO:0004246|DOID:13378|OMIM:611775|ICD9:446.1|NCIT:C34825	mondo.json	acute febrile mucocutaneous lymph node syndrome|Kd|Kawasaki disease|MLNS|infantile polyarteritis|mucocutaneous lymph node syndrome|acute febrile MCLS|Kawasaki syndrome|Kawasaki's disease|acute febrile mucocutaneous lymph node syndrome [MCLS]|infantile polyarteritis nodosa	http://purl.obolibrary.org/obo/MONDO_0012727	http://identifiers.org/mesh/D009080|https://omim.org/entry/611775|Orphanet:2331|UMLS:C0026691|NCIT:C34825|DOID:13378|http://identifiers.org/snomedct/75053002	ordo_disease
HP:0001935	biolink:PhenotypicFeature	Microcytic anemia	A kind of anemia in which the volume of the red blood cells is reduced.	UMLS:C0085576|SNOMEDCT_US:234349007|MSH:C562385	mondo.json	Microcytic anaemia	http://purl.obolibrary.org/obo/HP_0001935		
MONDO:0012724	biolink:Disease	familial cold autoinflammatory syndrome 2	An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month.	MESH:C567090|UMLS:C3897034|UMLS:C2673198|OMIM:611762|Orphanet:247868|DOID:0090063|NCIT:C119043	mondo.json	NLRP12 familial cold autoinflammatory syndrome|familial cold autoinflammatory syndrome 2|NALP12-associated hereditary periodic fever syndrome|familial cold autoinflammatory syndrome caused by mutation in NLRP12|NAPS12|familial cold autoinflammatory syndrome type 2|NLRP12-associated hereditary periodic fever syndrome|FCAS2	http://purl.obolibrary.org/obo/MONDO_0012724	https://omim.org/entry/611762|UMLS:C3897034|DOID:0090063|UMLS:C2673198|NCIT:C119043|Orphanet:247868|http://identifiers.org/mesh/C567090	ordo_disease
MONDO:0012725	biolink:Disease	lipoprotein glomerulopathy		SCTID:446923008|ICD9:272.8|ICD9:593.89|OMIM:611771|Orphanet:329481|MESH:C567089|UMLS:C2673196	mondo.json	lipoprotein glomerulopathy|LPG	http://purl.obolibrary.org/obo/MONDO_0012725	https://omim.org/entry/611771|Orphanet:329481|UMLS:C2673196|http://identifiers.org/snomedct/446923008|http://identifiers.org/mesh/C567089	ordo_disease
HP:0001933	biolink:PhenotypicFeature	Subcutaneous hemorrhage	This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).	UMLS:C0854107	mondo.json	Bleeding below the skin|Subcutaneous haemorrhage	http://purl.obolibrary.org/obo/HP_0001933		
HP:0001939	biolink:PhenotypicFeature	Abnormality of metabolism/homeostasis		UMLS:C4021768	mondo.json	Metabolism abnormality|Laboratory abnormality	http://purl.obolibrary.org/obo/HP_0001939		
MONDO:0012728	biolink:Disease	Brugada syndrome 2	Any Brugada syndrome in which the cause of the disease is a mutation in the GPD1L gene.	UMLS:C2673193|DOID:0110219|MESH:C567087|OMIM:611777	mondo.json	Brugada syndrome caused by mutation in GPD1L|GPD1L Brugada syndrome|Brugada syndrome type 2|Brugada syndrome 2|BRGDA2	http://purl.obolibrary.org/obo/MONDO_0012728	http://identifiers.org/mesh/C567087|https://omim.org/entry/611777|DOID:0110219|UMLS:C2673193	
MONDO:0012729	biolink:Disease	erythrocytosis, familial, 4	Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene.	UMLS:C2673187|OMIM:611783|MESH:C567086|DOID:0080339	mondo.json	erythrocytosis, familial, type 4|familial polycythemia caused by mutation in EPAS1|ECYT4|EPAS1 familial polycythemia|erythrocytosis, familial, 4	http://purl.obolibrary.org/obo/MONDO_0012729	http://identifiers.org/mesh/C567086|https://omim.org/entry/611783|DOID:0080339|UMLS:C2673187	
MONDO:0012730	biolink:Disease	aortic aneurysm, familial thoracic 6	Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene.	MESH:C567085|UMLS:C2673186|OMIM:611788	mondo.json	AAT6|ACTA2 familial thoracic aortic aneurysm and aortic dissection|familial thoracic aortic aneurysm with livedo reticularis and iris flocculi|familial thoracic aortic aneurysm and aortic dissection caused by mutation in ACTA2|aortic aneurysm, familial thoracic 6|aortic aneurysm, familial thoracic type 6	http://purl.obolibrary.org/obo/MONDO_0012730	UMLS:C2673186|http://identifiers.org/mesh/C567085|https://omim.org/entry/611788	
HGNC:4263	biolink:NamedThing	GHR			mondo.json		http://identifiers.org/hgnc/4263		
MONDO:0012733	biolink:Disease	autosomal recessive bestrophinopathy	Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).	SCTID:723828008|DOID:0050662|OMIM:611809|ICD10CM:H35.5|UMLS:C2678493|Orphanet:139455|MESH:C567518|UMLS:C3888198	mondo.json	bestrophinopathy, autosomal recessive|retinopathy, Burgess-Black type|ARB|bestrophinopathy	http://purl.obolibrary.org/obo/MONDO_0012733	DOID:0050662|http://identifiers.org/snomedct/723828008|Orphanet:139455|UMLS:C2678493|UMLS:C3888198|https://omim.org/entry/611809|http://identifiers.org/mesh/C567518	ordo_disease
HGNC:4261	biolink:NamedThing	GH1			mondo.json		http://identifiers.org/hgnc/4261		
HP:0001931	biolink:PhenotypicFeature	Hypochromic anemia	A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.	MSH:D000747|UMLS:C0002884|SNOMEDCT_US:44452003	mondo.json	Hypochromic anaemia	http://purl.obolibrary.org/obo/HP_0001931		
MONDO:0012734	biolink:Disease	SERKAL syndrome	SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.	Orphanet:139466|GARD:0010302|NCIT:C123726|SCTID:723720008|OMIM:611812|MESH:C567517|UMLS:C2678492	mondo.json	46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs|46,XX Sex reversal with dysgenesis of kidneys Adrenals and lungs|Sex reversion-kidneys, adrenal and lung dysgenesis syndrome|SERKAL syndrome|SERKAL	http://purl.obolibrary.org/obo/MONDO_0012734	Orphanet:139466|UMLS:C2678492|NCIT:C123726|https://omim.org/entry/611812|http://identifiers.org/snomedct/723720008|http://identifiers.org/mesh/C567517	ordo_malformation_syndrome
MONDO:0012731	biolink:Disease	elliptocytosis 1	Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene.	UMLS:C2678497|MESH:C567520|OMIM:611804	mondo.json	Protein 4.1 of erythrocyte Membrane, defect of|elliptocytosis-1|elliptocytosis, Rhesus-linked type|elliptocytosis type 1|EPB41 hereditary elliptocytosis|EL1|hereditary elliptocytosis caused by mutation in EPB41|4.1-minus trait|elliptocytosis 1|4.1- trait	http://purl.obolibrary.org/obo/MONDO_0012731	UMLS:C2678497|https://omim.org/entry/611804|http://identifiers.org/mesh/C567520	
MONDO:0012732	biolink:Disease	tremor, hereditary essential, and idiopathic normal pressure hydrocephalus		OMIM:611808|UMLS:C2678494|MESH:C567519	mondo.json	ETINPH|tremor, hereditary essential, and idiopathic normal pressure hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0012732	UMLS:C2678494|https://omim.org/entry/611808|http://identifiers.org/mesh/C567519	
UBERON:0035927	biolink:AnatomicalEntity	sulcus of parietal lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035927		
MONDO:0000759	biolink:Disease	obsolete acrorenal syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000759		
MONDO:0000758	biolink:Disease	bacillary angiomatosis	A condition that is caused by infection with Bartonella, and which is characterized by vascular proliferation, usually in immunocompromised individuals.	UMLS:C0085434|MESH:D016917|ICD9:083.8|DOID:0060345|SCTID:58213005|NCIT:C3477	mondo.json	Bartonella angiomatosis|bacillary epithelioid Angiomatoses|angiomatoses, epithelioid|Bartonella caused angiomatosis|bacillary angiomatosis|bacillary Angiomatoses|angiomatoses, bacillary|angiomatosis, bacillary epithelioid|epithelioid angiomatosis, bacillary|epithelioid angiomatosis|epithelioid Angiomatoses|angiomatosis, epithelioid|bacillary epithelioid angiomatosis|epithelioid Angiomatoses, bacillary|angiomatoses, bacillary epithelioid	http://purl.obolibrary.org/obo/MONDO_0000758	DOID:0060345|NCIT:C3477|http://identifiers.org/snomedct/58213005|http://identifiers.org/mesh/D016917|UMLS:C0085434	
MONDO:0000757	biolink:Disease	glucocorticoid-induced osteoporosis	An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption.	DOID:0060343	mondo.json	steroid-induced osteoporosis	http://purl.obolibrary.org/obo/MONDO_0000757	DOID:0060343	
MONDO:0000756	biolink:Disease	parameningeal embryonal rhabdomyosarcoma	An embryonal rhabdomyosarcoma located in the parameningeal region.	DOID:0060338	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000756	DOID:0060338	
HGNC:4268	biolink:NamedThing	CBLIF			mondo.json		http://identifiers.org/hgnc/4268		
GO:0099106	biolink:NamedThing	ion channel regulator activity	Modulates the activity of a channel via direct interaction with it. A channel catalyzes energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel.		mondo.json		http://purl.obolibrary.org/obo/GO_0099106		
HGNC:4266	biolink:NamedThing	GHRHR			mondo.json		http://identifiers.org/hgnc/4266		
HP:0001909	biolink:PhenotypicFeature	Leukemia	A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.	SNOMEDCT_US:269475001|UMLS:C0376545|MSH:D019337|SNOMEDCT_US:93143009|SNOMEDCT_US:87163000|SNOMEDCT_US:129154003|MSH:D007938|UMLS:C0023418	mondo.json	Blood cancer|Leukaemia	http://purl.obolibrary.org/obo/HP_0001909		
GO:0051179	biolink:NamedThing	localization	Any process in which a cell, a substance, or a cellular entity, such as a protein complex or organelle, is transported, tethered to or otherwise maintained in a specific location. In the case of substances, localization may also be achieved via selective degradation.		mondo.json	single-organism localization|single organism localization|establishment and maintenance of cellular component location|establishment and maintenance of substance location|establishment and maintenance of substrate location|establishment and maintenance of localization|establishment and maintenance of position|localisation	http://purl.obolibrary.org/obo/GO_0051179		
HP:0001907	biolink:PhenotypicFeature	Thromboembolism	The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.	SNOMEDCT_US:371039008|UMLS:C0085307|MSH:D013923|SNOMEDCT_US:13713005|UMLS:C0040038|MSH:D016769	mondo.json	Embolism and thrombosis|Thromboembolic disease|Blood clot in blood vessel|Thromboembolic events	http://purl.obolibrary.org/obo/HP_0001907		
MONDO:0000733	biolink:Disease	cornea plana		DOID:0060287|SCTID:204145006|HP:0007720|OMIMPS:121400	mondo.json	flat cornea	http://purl.obolibrary.org/obo/MONDO_0000733	http://identifiers.org/snomedct/204145006|https://omim.org/phenotypicSeries/PS121400|DOID:0060287	
MONDO:0000732	biolink:Disease	combined oxidative phosphorylation deficiency	A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes.	OMIMPS:609060|GARD:0012893|DOID:0060286	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000732	DOID:0060286|https://omim.org/phenotypicSeries/PS609060	gard_rare
MONDO:0000731	biolink:Disease	obsolete peeling skin syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000731		
MONDO:0000730	biolink:Disease	obsolete pontocerebellar hypoplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000730		
MONDO:0012715	biolink:Disease	migraine with or without aura, susceptibility to, 12		OMIM:611706	mondo.json	migraine, with or without aura, susceptibility to, 12|MGR12|migraine with or without aura, susceptibility to, 12	http://purl.obolibrary.org/obo/MONDO_0012715	https://omim.org/entry/611706	predisposition
MONDO:0012716	biolink:Disease	spondyloepiphyseal dysplasia, Cantu type	Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).	Orphanet:163654|MESH:C567128|UMLS:C2673649|SCTID:718765003|GARD:0010629|OMIM:611717	mondo.json	Sed-BDS|fantasy Island syndrome|SED-BDS|spondyloepiphyseal dysplasia-brachydactyly and distinctive speech|tattoo dysplasia|Tatoo dysplasia|spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome	http://purl.obolibrary.org/obo/MONDO_0012716	http://identifiers.org/mesh/C567128|https://omim.org/entry/611717|Orphanet:163654|UMLS:C2673649|http://identifiers.org/snomedct/718765003	ordo_disease
MONDO:0012713	biolink:Disease	spondylometaphyseal dysplasia, East African type		OMIM:611702|MESH:C535796|GARD:0004992|UMLS:C2673686	mondo.json	spondylometaphyseal dysplasia, East African type|spondylometaphyseal dysplasia East-African type	http://purl.obolibrary.org/obo/MONDO_0012713	https://omim.org/entry/611702|http://identifiers.org/mesh/C535796|UMLS:C2673686	gard_rare
MONDO:0012714	biolink:Disease	early-onset myopathy with fatal cardiomyopathy		MESH:C567129|Orphanet:289377|UMLS:C2673677|OMIM:611705|SCTID:702343002	mondo.json	myopathy, early-onset, with fatal cardiomyopathy|Salih myopathy|EOMFC|SALMY	http://purl.obolibrary.org/obo/MONDO_0012714	http://identifiers.org/mesh/C567129|https://omim.org/entry/611705|http://identifiers.org/snomedct/702343002|UMLS:C2673677|Orphanet:289377	ordo_disease
MONDO:0012719	biolink:Disease	encephalopathy due to prosaposin deficiency	Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses.	Orphanet:139406|SCTID:720864008|GARD:0012505|DOID:0111330|UMLS:C4303785|OMIM:611721|UMLS:C2673635|MESH:C567125	mondo.json	combined Sap deficiency|combined SAP deficiency|combined saposin deficiency|PSAPD|prosaposin deficiency|combined prosaposin deficiency	http://purl.obolibrary.org/obo/MONDO_0012719	http://identifiers.org/snomedct/720864008|http://identifiers.org/mesh/C567125|https://omim.org/entry/611721|DOID:0111330|UMLS:C4303785|UMLS:C2673635|Orphanet:139406	ordo_disease|gard_rare
HP:0001903	biolink:PhenotypicFeature	Anemia	A reduction in erythrocytes volume or hemoglobin concentration.	SNOMEDCT_US:271737000|UMLS:C0002871|UMLS:C0162119|SNOMEDCT_US:165397008|MSH:D000740	mondo.json	Decreased haemoglobin|Anaemia|Low number of red blood cells or hemoglobin|Low number of red blood cells or haemoglobin|Decreased hemoglobin	http://purl.obolibrary.org/obo/HP_0001903		
MONDO:0012717	biolink:Disease	renal hypomagnesemia 4	Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene.	MESH:C567127|DOID:0060882|OMIM:611718|UMLS:C2673648	mondo.json	familial primary hypomagnesemia caused by mutation in EGF|HOMG4|primary hypomagnesemia caused by mutation in EGF|hypomagnesemia, renal, Normocalciuric|renal hypomagnesemia type 4|EGF primary hypomagnesemia|EGF familial primary hypomagnesemia|hypomagnesemia 4, renal	http://purl.obolibrary.org/obo/MONDO_0012717	http://identifiers.org/mesh/C567127|https://omim.org/entry/611718|UMLS:C2673648|DOID:0060882	
MONDO:0012718	biolink:Disease	hypotonia with lactic acidemia and hyperammonemia	This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia.	DOID:0111473|UMLS:C2673642|MESH:C567126|OMIM:611719|SCTID:724279004|Orphanet:137908|UMLS:C4510567	mondo.json	combined oxidative phosphorylation deficiency 5|combined oxidative phosphorylation defect type 5|COXPD5|MRPS22 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 5|combined oxidative phosphorylation deficiency caused by mutation in MRPS22	http://purl.obolibrary.org/obo/MONDO_0012718	UMLS:C4510567|http://identifiers.org/mesh/C567126|https://omim.org/entry/611719|Orphanet:137908|DOID:0111473|http://identifiers.org/snomedct/724279004|UMLS:C2673642	ordo_disease
HGNC:4274	biolink:NamedThing	GJA1			mondo.json		http://identifiers.org/hgnc/4274		
MONDO:0012722	biolink:Disease	Dauwerse-Peters syndrome		UMLS:C2673203|GARD:0010568|MESH:C567093|OMIM:611733	mondo.json	short stature, Facial Dysmorphism, Severe brachydactyly, and syndactyly|short stature, facial dysmorphism, severe brachydactyly and syndactyly|Dauwerse-Peters syndrome	http://purl.obolibrary.org/obo/MONDO_0012722	UMLS:C2673203|http://identifiers.org/mesh/C567093|https://omim.org/entry/611733	gard_rare
MONDO:0012723	biolink:Disease	Leber congenital amaurosis 10	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene.	MESH:C565720|DOID:0110291|GARD:0010487|ICD10CM:H35.5|OMIM:611755	mondo.json	amaurosis congenita of Leber, type 10|CEP290 Leber congenital amaurosis|Leber congenital amaurosis type 10|LCA10|Leber congenital amaurosis caused by mutation in CEP290|Leber congenital amaurosis 10	http://purl.obolibrary.org/obo/MONDO_0012723	DOID:0110291|http://identifiers.org/mesh/C565720|https://omim.org/entry/611755	gard_rare
MONDO:0012720	biolink:Disease	Krabbe disease, atypical, due to saposin A deficiency		GARD:0010289|UMLS:C2673266|MESH:C567097|OMIM:611722	mondo.json	saposin A deficiency|Krabbe disease, atypical, due to saposin A deficiency|Krabbe disease, atypical due to saposin A deficiency|Krabbe disease, atypical	http://purl.obolibrary.org/obo/MONDO_0012720	UMLS:C2673266|http://identifiers.org/mesh/C567097|https://omim.org/entry/611722	gard_rare
MONDO:0012721	biolink:Disease	progressive myoclonic epilepsy type 3	Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene.	UMLS:C2673257|GARD:0002167|DOID:0111446|Orphanet:263516|OMIM:611726|MESH:C567095	mondo.json	EPM3|EPM 3|progressive myoclonic epilepsy type 3|ceroid lipofuscinosis, neuronal, 14|progressive myoclonic epilepsy 3|KCTD7 progressive myoclonic epilepsy|epilepsy, progressive myoclonic, 3, with or without intracellular inclusions|epilepsy progressive myoclonic type 3|PME type 3|progressive myoclonic epilepsy due to KCTD7 deficiency|progressive myoclonic epilepsy caused by mutation in KCTD7|progressive myoclonus epilepsy type 3|epilepsy, progressive myoclonic 3, with or without intracellular inclusions	http://purl.obolibrary.org/obo/MONDO_0012721	DOID:0111446|UMLS:C2673257|Orphanet:263516|http://identifiers.org/mesh/C567095|https://omim.org/entry/611726	ordo_disease|gard_rare
GO:0051173	biolink:NamedThing	positive regulation of nitrogen compound metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds.		mondo.json	upregulation of nitrogen metabolic process|positive regulation of nitrogen metabolic process|up regulation of nitrogen metabolic process|positive regulation of nitrogen metabolism|stimulation of nitrogen metabolic process|up-regulation of nitrogen metabolic process|activation of nitrogen metabolic process	http://purl.obolibrary.org/obo/GO_0051173		
MONDO:0000726	biolink:Disease	idiopathic scoliosis	A scoliosis with no known cause.	SCTID:203639008|UMLS:CN241052|DOID:0060250	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000726	UMLS:CN241052|http://identifiers.org/snomedct/203639008|DOID:0060250	
GO:0051174	biolink:NamedThing	regulation of phosphorus metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus.		mondo.json	regulation of phosphorus metabolism	http://purl.obolibrary.org/obo/GO_0051174		
MONDO:0000725	biolink:Disease	obsolete Simpson-Golabi-Behmel syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000725		
MONDO:0000724	biolink:Disease	specific language impairment	A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors.	UMLS:C0454651|Orphanet:458713|DOID:0060244|OMIMPS:606711	mondo.json	language impairment (disease)	http://purl.obolibrary.org/obo/MONDO_0000724	UMLS:C0454651|https://omim.org/phenotypicSeries/PS606711|DOID:0060244|Orphanet:458713	
GO:0051171	biolink:NamedThing	regulation of nitrogen compound metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds.		mondo.json	regulation of nitrogen metabolic process|regulation of nitrogen metabolism	http://purl.obolibrary.org/obo/GO_0051171		
MONDO:0000723	biolink:Disease	stutter disorder	A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age.	OMIMPS:184450|NCIT:C35043|DOID:0060243	mondo.json	stammering|stuttering, familial persistent|stuttering|stutter|familial persistent stuttering	http://purl.obolibrary.org/obo/MONDO_0000723	NCIT:C35043|DOID:0060243|https://omim.org/phenotypicSeries/PS184450	
GO:0051172	biolink:NamedThing	negative regulation of nitrogen compound metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds.		mondo.json	downregulation of nitrogen metabolic process|negative regulation of nitrogen metabolism|down regulation of nitrogen metabolic process|inhibition of nitrogen metabolic process|down-regulation of nitrogen metabolic process|negative regulation of nitrogen metabolic process	http://purl.obolibrary.org/obo/GO_0051172		
MONDO:0000729	biolink:Disease	obsolete congenital ptosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000729		
HGNC:4279	biolink:NamedThing	GJA5			mondo.json		http://identifiers.org/hgnc/4279		
MONDO:0000728	biolink:Disease	ptosis	The drooping of the upper eyelid.	UMLS:C0033377|HP:0000508|MESH:D001763|ICD9:374.30|ICD9:374.3|NCIT:C27298|UMLS:C0005745|DOID:0060260|SCTID:11934000	mondo.json	blepharoptosis|eyelid ptosis|ptosis|drooping eyelid|ptosis (disease)	http://purl.obolibrary.org/obo/MONDO_0000728	UMLS:C0033377|http://identifiers.org/mesh/D001763|http://identifiers.org/snomedct/11934000|NCIT:C27298|DOID:0060260|UMLS:C0005745	
GO:0051175	biolink:NamedThing	negative regulation of sulfur metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving sulfur or compounds containing sulfur.		mondo.json	inhibition of sulfur metabolic process|down-regulation of sulfur metabolic process|negative regulation of sulphur metabolism|negative regulation of sulphur metabolic process|negative regulation of sulfur metabolism|downregulation of sulfur metabolic process|down regulation of sulfur metabolic process	http://purl.obolibrary.org/obo/GO_0051175		
UBERON:0008367	biolink:AnatomicalEntity	breast epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008367		
MONDO:0000727	biolink:Disease	scapuloperoneal myopathy	A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.	UMLS:C2931268|MESH:C536624|DOID:0060253	mondo.json	scapuloperoneal syndrome, myopathic type|myopathy, scapuloperoneal	http://purl.obolibrary.org/obo/MONDO_0000727	http://identifiers.org/mesh/C536624|DOID:0060253|UMLS:C2931268	
GO:0051176	biolink:NamedThing	positive regulation of sulfur metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving sulfur or compounds containing sulfur.		mondo.json	upregulation of sulfur metabolic process|positive regulation of sulphur metabolic process|positive regulation of sulfur metabolism|positive regulation of sulphur metabolism|up regulation of sulfur metabolic process|stimulation of sulfur metabolic process|up-regulation of sulfur metabolic process|activation of sulfur metabolic process	http://purl.obolibrary.org/obo/GO_0051176		
HGNC:4277	biolink:NamedThing	GJA3			mondo.json		http://identifiers.org/hgnc/4277		
MONDO:0000740	biolink:Disease	adenoid hypertrophy	An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing.	DOID:0060311|ICD9:474.12|UMLS:C0149825|SCTID:111591002|MedDRA:10001229	mondo.json	enlarged adenoids|adenoidal hypertrophy	http://purl.obolibrary.org/obo/MONDO_0000740	http://identifiers.org/snomedct/111591002|DOID:0060311|UMLS:C0149825	
NCBITaxon:4447	biolink:OrganismalEntity	Liliopsida		PMID:25249442|GC_ID:1	mondo.json	monocots|monocots|monocotyledons|Monocotyledoneae	http://purl.obolibrary.org/obo/NCBITaxon_4447		
NCBITaxon:89940	biolink:OrganismalEntity	Cladophialophora bantiana		GC_ID:1	mondo.json	Cladosporium bantianum|Torula bantiana|Xylohypha bantiana|Cladosporium trichoides	http://purl.obolibrary.org/obo/NCBITaxon_89940		
MONDO:0000744	biolink:Disease	lung abscess	A bacterial, fungal or parasitic abscess that develops in the lung parenchyma. Causes include aspiration pneumonia, necrotizing pneumonia, necrotizing malignant tumors, and Wegener's granulomatosis.	UMLS:C0024110|SCTID:73452002|ICD9:513.0|EFO:1001362|MESH:D008169|DOID:0060317|HP:0025044|NCIT:C99090	mondo.json	lung abscess|lung abscess (disease)	http://purl.obolibrary.org/obo/MONDO_0000744	http://identifiers.org/snomedct/73452002|http://identifiers.org/mesh/D008169|UMLS:C0024110|NCIT:C99090|DOID:0060317	
MONDO:0000743	biolink:Disease	oral hairy leukoplakia	An epithelial hyperplasia of the oral cavity mucosa associated with Epstein-Barr virus and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy.	UMLS:C0206186|NCIT:C3722|ICD10CM:K13.3|ICD9:528.6|MESH:D017733|SCTID:414952002|DOID:0060315	mondo.json	mouth hairy leukoplakia|hairy leukoplakia of the mouth|hairy leukoplakia of mouth|hairy leukoplakia of the oral mucosa|hairy leukoplakia of oral mucosa|hairy leukoplakia|oral hairy keratosis|oral cavity hairy leukoplakia	http://purl.obolibrary.org/obo/MONDO_0000743	UMLS:C0206186|http://identifiers.org/snomedct/414952002|DOID:0060315|http://purl.bioontology.org/ontology/ICD10CM/K13.3|http://identifiers.org/mesh/D017733|NCIT:C3722	
MONDO:0000742	biolink:Disease	obsolete persistent generalized lymphadenopathy		SCTID:95892003|DOID:0060314	mondo.json	PGL	http://purl.obolibrary.org/obo/MONDO_0000742	DOID:0060314|http://identifiers.org/snomedct/95892003	
MONDO:0000741	biolink:Disease	angular cheilitis	Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts.	DOID:0060312|UMLS:C0221237|SCTID:16459000|UMLS:C0221264|NCIT:C112198	mondo.json	cheilitis of angle of oral opening|angular stomatitis|angular cheilosis|angle of oral opening cheilitis|commissural cheilitis|cheilosis|angular cheilitis|perleche|perlèche	http://purl.obolibrary.org/obo/MONDO_0000741	UMLS:C0221237|UMLS:C0221264|DOID:0060312|NCIT:C112198|http://identifiers.org/snomedct/16459000	
MONDO:0012704	biolink:Disease	dilated cardiomyopathy 1X	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene.	OMIM:611615|MESH:C566907|UMLS:C1969024|DOID:0110444	mondo.json	cardiomyopathy, dilated, type 1X|cardiomyopathy, dilated, 1X|familial isolated dilated cardiomyopathy caused by mutation in FKTN|FKTN familial isolated dilated cardiomyopathy|dilated cardiomyopathy with mild or no proximal muscle weakness|cardiomyopathy, dilated, with mild or No proximal muscle weakness|dilated cardiomyopathy type 1X|CMD1X	http://purl.obolibrary.org/obo/MONDO_0012704	https://omim.org/entry/611615|http://identifiers.org/mesh/C566907|DOID:0110444|UMLS:C1969024	
MONDO:0012705	biolink:Disease	familial temporal lobe epilepsy 3		MESH:C566903|OMIM:611630|DOID:0060750|UMLS:C1968848	mondo.json	familial temporal lobe epilepsy type 3|FMTLE|epilepsy, familial mesial temporal lobe|ETL3|familial mesial temporal lobe epilepsy|epilepsy, familial temporal lobe, 3	http://purl.obolibrary.org/obo/MONDO_0012705	UMLS:C1968848|https://omim.org/entry/611630|http://identifiers.org/mesh/C566903|DOID:0060750	
HP:0001913	biolink:PhenotypicFeature	Granulocytopenia	An abnormally reduced number of granulocytes in the blood.	MSH:D000380|SNOMEDCT_US:417672002|SNOMEDCT_US:17182001|UMLS:C0001824	mondo.json		http://purl.obolibrary.org/obo/HP_0001913		
NCBITaxon:63330	biolink:OrganismalEntity	Hendra henipavirus		GC_ID:1|PMID:7701348	mondo.json	Hendra virus|Equine morbillivirus	http://purl.obolibrary.org/obo/NCBITaxon_63330		
MONDO:0012702	biolink:Disease	celiac disease, susceptibility to, 6		OMIM:611598	mondo.json	CELIAC6|gluten-sensitive enteropathy, susceptibility to, 6|autoimmune disease, susceptibility to, 5|celiac disease, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0012702	https://omim.org/entry/611598	predisposition
HP:0001911	biolink:PhenotypicFeature	Abnormal granulocyte morphology	Any structural abnormality or abnormal count of granulocytes.	UMLS:C0427515|SNOMEDCT_US:250274006	mondo.json	Abnormality of granulocytes	http://purl.obolibrary.org/obo/HP_0001911		
MONDO:0012703	biolink:Disease	lissencephaly due to TUBA1A mutation	Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.	OMIM:611603|Orphanet:171680|UMLS:CN200289|NCIT:C148461|MESH:C566908	mondo.json	lissencephaly 3|LIS3	http://purl.obolibrary.org/obo/MONDO_0012703	Orphanet:171680|NCIT:C148461|https://omim.org/entry/611603|UMLS:CN200289|http://identifiers.org/mesh/C566908	ordo_malformation_syndrome
MONDO:0012708	biolink:Disease	primary lateral sclerosis, adult, 1		OMIM:611637|MESH:C566900	mondo.json	PLSA1|primary lateral sclerosis, ADULT, 1|Pls, adult	http://purl.obolibrary.org/obo/MONDO_0012708	https://omim.org/entry/611637|http://identifiers.org/mesh/C566900	
MONDO:0012709	biolink:Disease	microphthalmia, isolated, with coloboma 5	Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene.	OMIM:611638|MESH:C566899|UMLS:C1968843	mondo.json	microphthalmia, isolated, with coloboma type 5|SHH microphthalmia, isolated, with coloboma|microphthalmia, isolated, with coloboma 5|Shh microphthalmia, isolated, with coloboma|microphthalmia with coloboma 5|MCOPCB5|microphthalmia, isolated, with coloboma caused by mutation in Shh|microphthalmia, isolated, with coloboma caused by mutation in SHH	http://purl.obolibrary.org/obo/MONDO_0012709	UMLS:C1968843|https://omim.org/entry/611638|http://identifiers.org/mesh/C566899	
MONDO:0012706	biolink:Disease	familial temporal lobe epilepsy 4	A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22.	OMIM:611631|MESH:C566902|DOID:0060753|UMLS:C1968847	mondo.json	ETL4|EPOLM|epilepsy, familial temporal lobe, 4|familial temporal lobe epilepsy type 4|epilepsy, occipitotemporal lobe, and migraine with aura|occipitotemporal lobe epilepsy and migraine with aura	http://purl.obolibrary.org/obo/MONDO_0012706	UMLS:C1968847|https://omim.org/entry/611631|http://identifiers.org/mesh/C566902|DOID:0060753	
MONDO:0012707	biolink:Disease	familial febrile seizures 9		UMLS:C1968846|MESH:C566901|OMIM:611634|DOID:0111303	mondo.json	febrile seizures, familial, 9|FEB9|febrile convulsions, familial, 9	http://purl.obolibrary.org/obo/MONDO_0012707	UMLS:C1968846|https://omim.org/entry/611634|DOID:0111303|http://identifiers.org/mesh/C566901	
HGNC:4286	biolink:NamedThing	GJB4			mondo.json		http://identifiers.org/hgnc/4286		
UBERON:0011997	biolink:AnatomicalEntity	coelom			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011997		
HGNC:4285	biolink:NamedThing	GJB3			mondo.json		http://identifiers.org/hgnc/4285		
HGNC:4284	biolink:NamedThing	GJB2			mondo.json		http://identifiers.org/hgnc/4284		
MONDO:0012711	biolink:Disease	peripapillary atrophy, beta type		MESH:C566898|UMLS:C1968838|OMIM:611650	mondo.json	Beta-PPA|peripapillary atrophy, BETA type|peripapillary atrophy, beta type|peripapillary chorioretinal atrophy, Beta type|PPAB	http://purl.obolibrary.org/obo/MONDO_0012711	https://omim.org/entry/611650|http://identifiers.org/mesh/C566898|UMLS:C1968838	
GO:0051180	biolink:NamedThing	vitamin transport	The directed movement of vitamins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A vitamin is one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body.		mondo.json	vitamin or cofactor transport	http://purl.obolibrary.org/obo/GO_0051180		
HGNC:4283	biolink:NamedThing	GJB1			mondo.json		http://identifiers.org/hgnc/4283		
MONDO:0012712	biolink:Disease	dystonia with cerebellar atrophy		UMLS:C2673697|OMIM:611694|MESH:C567131	mondo.json	dystonia with cerebellar atrophy|DYTCA	http://purl.obolibrary.org/obo/MONDO_0012712	https://omim.org/entry/611694|http://identifiers.org/mesh/C567131|UMLS:C2673697	
GO:0051181	biolink:NamedThing	obsolete cofactor transport	OBSOLETE. The directed movement of a cofactor into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A cofactor is a substance that is required for the activity of an enzyme or other protein.		mondo.json	vitamin or cofactor transport	http://purl.obolibrary.org/obo/GO_0051181		
HGNC:4281	biolink:NamedThing	GJA8			mondo.json		http://identifiers.org/hgnc/4281		
MONDO:0012710	biolink:Disease	hirschsprung disease, susceptibility to, 9		OMIM:611644	mondo.json	HSCR9|Hirschsprung disease, susceptibility to, 9	http://purl.obolibrary.org/obo/MONDO_0012710	https://omim.org/entry/611644	predisposition
MONDO:0000737	biolink:Disease	obsolete megalocornea			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000737		
MONDO:0000736	biolink:Disease	dyschromatosis universalis hereditaria	A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.	UMLS:C1306229|DOID:0060304|GARD:0001996|OMIMPS:127500|SCTID:239082002|Orphanet:241|UMLS:C2930995|MESH:C535730	mondo.json	DUH|dyschromatosis universalis	http://purl.obolibrary.org/obo/MONDO_0000736	UMLS:C2930995|Orphanet:241|http://identifiers.org/mesh/C535730|DOID:0060304|https://omim.org/phenotypicSeries/PS127500|http://identifiers.org/snomedct/239082002|UMLS:C1306229	gard_rare|ordo_disease
NCBITaxon:1262365	biolink:OrganismalEntity	Tabanoidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1262365		
MONDO:0000735	biolink:Disease	obsolete oculodentodigital dysplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000735		
MONDO:0000734	biolink:Disease	Ohdo syndrome and variants		DOID:0060289	mondo.json	Ohdo blepharophimosis syndrome|Ohdo syndrome	http://purl.obolibrary.org/obo/MONDO_0000734	DOID:0060289	
GO:0051188	biolink:NamedThing	obsolete cofactor biosynthetic process	OBSOLETE. The chemical reactions and pathways resulting in the formation of a cofactor, a substance that is required for the activity of an enzyme or other protein.		mondo.json	cofactor anabolism|cofactor biosynthesis|cofactor synthesis|cofactor formation	http://purl.obolibrary.org/obo/GO_0051188		
MONDO:0000739	biolink:Disease	uvulitis	Inflammation of the uvula.	UMLS:C0042174|DOID:0060310|NCIT:C128385|ICD9:528.3|SCTID:300932000|MedDRA:10051962	mondo.json	palatine uvula inflammation|inflammation of palatine uvula|acute uvulitis	http://purl.obolibrary.org/obo/MONDO_0000739	UMLS:C0042174|NCIT:C128385|DOID:0060310|http://identifiers.org/snomedct/300932000	
GO:0051186	biolink:NamedThing	obsolete cofactor metabolic process	OBSOLETE. The chemical reactions and pathways involving a cofactor, a substance that is required for the activity of an enzyme or other protein. Cofactors may be inorganic, such as the metal atoms zinc, iron, and copper in certain forms, or organic, in which case they are referred to as coenzymes. Cofactors may either be bound tightly to active sites or bind loosely with the substrate.		mondo.json	cofactor metabolism	http://purl.obolibrary.org/obo/GO_0051186		
HGNC:4289	biolink:NamedThing	GK			mondo.json		http://identifiers.org/hgnc/4289		
MONDO:0000738	biolink:Disease	obsolete syndromic X-linked intellectual disability			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000738		
HGNC:4288	biolink:NamedThing	GJB6			mondo.json		http://identifiers.org/hgnc/4288		
CHEBI:38092	biolink:ChemicalSubstance	cardenolide glycoside	Any member of the class of cardenolides with glycosyl residues attached to position 3.		mondo.json	5alpha-cardenolide glycoside|5beta-cardenolide glycoside	http://purl.obolibrary.org/obo/CHEBI_38092		
GO:0016746	biolink:NamedThing	acyltransferase activity	Catalysis of the transfer of an acyl group from one compound (donor) to another (acceptor).		mondo.json	transferase activity, transferring acyl groups	http://purl.obolibrary.org/obo/GO_0016746		
GO:0016747	biolink:NamedThing	acyltransferase activity, transferring groups other than amino-acyl groups	Catalysis of the transfer of an acyl group, other than amino-acyl, from one compound (donor) to another (acceptor).		mondo.json	transferase activity, transferring groups other than amino-acyl groups|transferase activity, transferring acyl groups other than amino-acyl groups	http://purl.obolibrary.org/obo/GO_0016747		
CHEBI:51061	biolink:ChemicalSubstance	hormone receptor modulator	A drug that modulates the function of the endocrine glands, the biosynthesis of their secreted hormones, or the action of hormones upon their specific sites.		mondo.json	hormone receptor modulators	http://purl.obolibrary.org/obo/CHEBI_51061		
GO:0016741	biolink:NamedThing	transferase activity, transferring one-carbon groups	Catalysis of the transfer of a one-carbon group from one compound (donor) to another (acceptor).		mondo.json	methyltransferase activity	http://purl.obolibrary.org/obo/GO_0016741		
MPATH:0	biolink:NamedThing	pathological entity	Pathological structure or process		mondo.json		http://purl.obolibrary.org/obo/MPATH_0		
GO:0016740	biolink:NamedThing	transferase activity	Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2.		mondo.json		http://purl.obolibrary.org/obo/GO_0016740		
GO:0004773	biolink:NamedThing	steryl-sulfatase activity	Catalysis of the reaction: 3-beta-hydroxyandrost-5-en-17-one 3-sulfate + H2O = 3-beta-hydroxyandrost-5-en-17-one + sulfate.		mondo.json	steroid 3-sulfatase activity|steryl-sulphatase activity|dehydroepiandrosterone sulfatase activity|phenolic steroid sulfatase activity|3-beta-hydroxysteroid sulfate sulfatase activity|steryl-sulfate sulfohydrolase activity|pregnenolone sulfatase activity|dehydroepiandrosterone sulfate sulfatase activity|sterol sulfatase activity|steroid sulfatase activity|steroid sulfate sulfohydrolase activity|arylsulfatase C activity	http://purl.obolibrary.org/obo/GO_0004773		
GO:0016757	biolink:NamedThing	glycosyltransferase activity	Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor).		mondo.json	transferase activity, transferring glycosyl groups|transglycosidase activity|transglycosylase activity|transferase activity, transferring other glycosyl groups	http://purl.obolibrary.org/obo/GO_0016757		
GO:0016755	biolink:NamedThing	aminoacyltransferase activity	Catalysis of the transfer of an amino-acyl group from one compound (donor) to another (acceptor).		mondo.json	transferase activity, transferring amino-acyl groups	http://purl.obolibrary.org/obo/GO_0016755		
CHEBI:38099	biolink:ChemicalSubstance	thiadiazoles			mondo.json		http://purl.obolibrary.org/obo/CHEBI_38099		
NCBITaxon:4479	biolink:OrganismalEntity	Poaceae		GC_ID:1	mondo.json	grass family|Bambusaceae|Gramineae	http://purl.obolibrary.org/obo/NCBITaxon_4479		
GO:0004743	biolink:NamedThing	pyruvate kinase activity	Catalysis of the reaction: = ADP + H(+) + phosphoenolpyruvate => ATP + pyruvate.		mondo.json	phosphoenol transphosphorylase activity|ATP:pyruvate 2-O-phosphotransferase activity|phosphoenolpyruvate kinase activity	http://purl.obolibrary.org/obo/GO_0004743		
CHEBI:38070	biolink:ChemicalSubstance	anti-arrhythmia drug	A drug used for the treatment or prevention of cardiac arrhythmias. Anti-arrhythmia drugs may affect the polarisation-repolarisation phase of the action potential, its excitability or refractoriness, or impulse conduction or membrane responsiveness within cardiac fibres.		mondo.json	anti-arrhythmia agent|antiarrhythmic agent	http://purl.obolibrary.org/obo/CHEBI_38070		
ENVO:01001429	biolink:NamedThing	land conversion process	An anthropisation process during which terrestrial environments - natural or anthropised - or parts thereof are altered to facilitate human activities such as agriculture, settlement, or commerce.		mondo.json	land conversion|land development	http://purl.obolibrary.org/obo/ENVO_01001429		
HGNC:6814	biolink:NamedThing	MAGEL2			mondo.json		http://identifiers.org/hgnc/6814		
GO:0004749	biolink:NamedThing	ribose phosphate diphosphokinase activity	Catalysis of the reaction: D-ribose 5-phosphate + ATP = 5-phospho-alpha-D-ribose 1-diphosphate + AMP + 2 H(+).		mondo.json	ATP:D-ribose-5-phosphate diphosphotransferase activity|ribose-phosphate diphosphokinase activity|ribophosphate pyrophosphokinase activity|PPRibP synthetase activity|PP-ribose P synthetase activity|phosphoribosyl-diphosphate synthetase activity|phosphoribosylpyrophosphate synthase activity|PRPP synthetase activity|pyrophosphoribosylphosphate synthetase activity|phosphoribosylpyrophosphate synthetase activity|ribose-5-phosphate pyrophosphokinase activity|phosphoribosyl diphosphate synthetase activity|phosphoribosyl pyrophosphate synthetase activity|5-phosphoribosyl-alpha-1-pyrophosphate synthetase activity|5-phosphoribosyl-1-pyrophosphate synthetase activity|ribose-phosphate pyrophosphokinase activity|5-phosphoribose pyrophosphorylase activity	http://purl.obolibrary.org/obo/GO_0004749		
GO:0004758	biolink:NamedThing	serine C-palmitoyltransferase activity	Catalysis of the reaction: L-serine + H(+) + palmitoyl-CoA = 3-dehydrosphinganine + CO(2) + CoA.		mondo.json	serine palmitoyltransferase|acyl-CoA:serine C-2 acyltransferase decarboxylating|SPT|3-oxosphinganine synthetase activity|palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity	http://purl.obolibrary.org/obo/GO_0004758		
GO:0004757	biolink:NamedThing	sepiapterin reductase activity	Catalysis of the reaction: 7,8-dihydrobiopterin + NADP+ = sepiapterin + NADPH + H+.		mondo.json	7,8-dihydrobiopterin:NADP+ oxidoreductase activity	http://purl.obolibrary.org/obo/GO_0004757		
CHEBI:51039	biolink:ChemicalSubstance	dopamine uptake inhibitor	A dopaminergic agent that blocks the transport of dopamine into axon terminals or into storage vesicles within terminals. Most of the adrenergic uptake inhibitors also inhibit dopamine uptake.		mondo.json	dopamine uptake inhibitors|DARI|dopamine reuptake inhibitors|dopamine reuptake inhibitor|DRI	http://purl.obolibrary.org/obo/CHEBI_51039		
HGNC:6816	biolink:NamedThing	MAK			mondo.json		http://identifiers.org/hgnc/6816		
HGNC:6819	biolink:NamedThing	MALT1			mondo.json		http://identifiers.org/hgnc/6819		
HGNC:6823	biolink:NamedThing	MAN1B1			mondo.json		http://identifiers.org/hgnc/6823		
CHEBI:38077	biolink:ChemicalSubstance	polypyrrole	A compound composed of two or more pyrrole units.		mondo.json	polypyrroles|poly(pyrrole)s|PPys	http://purl.obolibrary.org/obo/CHEBI_38077		
PATO:0015023	biolink:NamedThing	decreased combustibility	An decrease in combustibility.		mondo.json	noncombustible	http://purl.obolibrary.org/obo/PATO_0015023		
PATO:0015024	biolink:NamedThing	increased porosity	An increase in porosity.		mondo.json		http://purl.obolibrary.org/obo/PATO_0015024		
PATO:0015021	biolink:NamedThing	combustibility	The propensity of a material to undergo combustion. Combustion encompasses smouldering and flaming combustion. Combustibility is usually applied to solids.		mondo.json		http://purl.obolibrary.org/obo/PATO_0015021		
PATO:0015022	biolink:NamedThing	increased combustibility	An increase in combustibility.		mondo.json	combustible	http://purl.obolibrary.org/obo/PATO_0015022		
PATO:0015025	biolink:NamedThing	decreased porosity	An decrease in porosity.		mondo.json		http://purl.obolibrary.org/obo/PATO_0015025		
HGNC:6826	biolink:NamedThing	MAN2B1			mondo.json		http://identifiers.org/hgnc/6826		
GO:0016705	biolink:NamedThing	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from each of two donors, and molecular oxygen is reduced or incorporated into a donor.		mondo.json	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, miscellaneous	http://purl.obolibrary.org/obo/GO_0016705		
UBERON:0008424	biolink:AnatomicalEntity	inguinal mammary gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008424		
UBERON:0008425	biolink:AnatomicalEntity	mammary ridge			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008425		
HGNC:6831	biolink:NamedThing	MANBA			mondo.json		http://identifiers.org/hgnc/6831		
HGNC:6833	biolink:NamedThing	MAOA			mondo.json		http://identifiers.org/hgnc/6833		
UBERON:0008429	biolink:AnatomicalEntity	cervical vertebral foramen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008429		
NCBITaxon:715962	biolink:OrganismalEntity	dothideomyceta		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_715962		
UBERON:0008420	biolink:AnatomicalEntity	buccal epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008420		
CHEBI:26078	biolink:ChemicalSubstance	phosphoric acid	A phosphorus oxoacid that consists of one oxo and three hydroxy groups joined covalently to a central phosphorus atom.		mondo.json	H3PO4|Phosphorsaeure|acide phosphorique|acidum phosphoricum|orthophosphoric acid|trihydroxidooxidophosphorus|Orthophosphoric acid|trihydrogen tetraoxophosphate(3-)|phosphoric acid|Phosphoric acid|Phosphorsaeureloesungen|Phosphate|tetraoxophosphoric acid|[PO(OH)3]	http://purl.obolibrary.org/obo/CHEBI_26078		
CHEBI:26079	biolink:ChemicalSubstance	phosphoric acid derivative			mondo.json		http://purl.obolibrary.org/obo/CHEBI_26079		
GO:0016712	biolink:NamedThing	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from reduced flavin or flavoprotein and one other donor, and one atom of oxygen is incorporated into one donor.		mondo.json	microsomal p450 activity|microsomal monooxygenase activity|flavoprotein monooxygenase activity|substrate,reduced-flavoprotein:oxygen oxidoreductase (RH-hydroxylating or -epoxidizing)|aryl hydrocarbon hydroxylase activity|cytochrome P450 CYP19|aryl-4-monooxygenase activity|xenobiotic monooxygenase activity|microsomal P-450|flavoprotein-linked monooxygenase activity|cytochrome p450 activity|unspecific monooxygenase activity	http://purl.obolibrary.org/obo/GO_0016712		
HGNC:6840	biolink:NamedThing	MAP2K1			mondo.json		http://identifiers.org/hgnc/6840		
CHEBI:26082	biolink:ChemicalSubstance	phosphorus molecular entity			mondo.json	phosphorus molecular entities	http://purl.obolibrary.org/obo/CHEBI_26082		
HGNC:6842	biolink:NamedThing	MAP2K2			mondo.json		http://identifiers.org/hgnc/6842		
GO:0004737	biolink:NamedThing	pyruvate decarboxylase activity	Catalysis of the reaction: a 2-oxo acid = an aldehyde + CO2.		mondo.json	pyruvic decarboxylase activity|2-oxo-acid carboxy-lyase (aldehyde-forming)|alpha-carboxylase activity|2-oxo-acid carboxy-lyase activity|alpha-ketoacid carboxylase activity	http://purl.obolibrary.org/obo/GO_0004737		
HGNC:6848	biolink:NamedThing	MAP3K1			mondo.json		http://identifiers.org/hgnc/6848		
UBERON:0008404	biolink:AnatomicalEntity	proximal tubular epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008404		
HGNC:6853	biolink:NamedThing	MAP3K14			mondo.json		http://identifiers.org/hgnc/6853		
GO:1905503	biolink:NamedThing	regulation of motile cilium assembly	Any process that modulates the frequency, rate or extent of motile cilium assembly.		mondo.json	regulation of motile primary cilia formation|regulation of motile primary cilia assembly|regulation of nodal cilium formation|regulation of motile primary cilium assembly|regulation of motile primary cilium formation|regulation of nodal cilium assembly	http://purl.obolibrary.org/obo/GO_1905503		
GO:1905504	biolink:NamedThing	negative regulation of motile cilium assembly	Any process that stops, prevents or reduces the frequency, rate or extent of motile cilium assembly.		mondo.json	downregulation of motile primary cilium formation|inhibition of motile primary cilia formation|down regulation of motile primary cilia assembly|downregulation of nodal cilium assembly|downregulation of nodal cilium formation|downregulation of motile primary cilium assembly|down regulation of motile primary cilia formation|downregulation of motile primary cilia assembly|inhibition of motile primary cilium assembly|inhibition of nodal cilium assembly|negative regulation of motile primary cilia formation|down regulation of nodal cilium formation|down-regulation of motile primary cilia formation|down regulation of motile primary cilium assembly|negative regulation of nodal cilium formation|down-regulation of motile primary cilium formation|down-regulation of nodal cilium formation|negative regulation of motile primary cilium formation|negative regulation of motile primary cilium assembly|negative regulation of nodal cilium assembly|down-regulation of nodal cilium assembly|down-regulation of motile primary cilium assembly|inhibition of motile primary cilium formation|down regulation of motile primary cilium formation|inhibition of nodal cilium formation|down regulation of nodal cilium assembly|down-regulation of motile primary cilia assembly|negative regulation of motile primary cilia assembly|inhibition of motile primary cilia assembly|downregulation of motile primary cilia formation	http://purl.obolibrary.org/obo/GO_1905504		
GO:1905505	biolink:NamedThing	positive regulation of motile cilium assembly	Any process that activates or increases the frequency, rate or extent of motile cilium assembly.		mondo.json	up regulation of nodal cilium formation|activation of motile primary cilium formation|up-regulation of motile primary cilia formation|up regulation of motile primary cilium assembly|up-regulation of motile primary cilium formation|up-regulation of nodal cilium assembly|up-regulation of nodal cilium formation|up regulation of motile primary cilium formation|up-regulation of motile primary cilium assembly|activation of motile primary cilia assembly|up regulation of nodal cilium assembly|up-regulation of motile primary cilia assembly|positive regulation of motile primary cilium formation|positive regulation of nodal cilium assembly|upregulation of motile primary cilia formation|up regulation of motile primary cilia assembly|activation of nodal cilium formation|positive regulation of motile primary cilia assembly|upregulation of motile primary cilium formation|upregulation of nodal cilium formation|upregulation of nodal cilium assembly|upregulation of motile primary cilium assembly|activation of motile primary cilia formation|positive regulation of motile primary cilia formation|activation of nodal cilium assembly|up regulation of motile primary cilia formation|upregulation of motile primary cilia assembly|positive regulation of nodal cilium formation|positive regulation of motile primary cilium assembly|activation of motile primary cilium assembly	http://purl.obolibrary.org/obo/GO_1905505		
UBERON:0008408	biolink:AnatomicalEntity	distal tubular epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008408		
HGNC:6859	biolink:NamedThing	MAP3K7			mondo.json		http://identifiers.org/hgnc/6859		
NCBITaxon:715989	biolink:OrganismalEntity	sordariomyceta		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_715989		
GO:1905516	biolink:NamedThing	positive regulation of fertilization	Any process that activates or increases the frequency, rate or extent of fertilization.		mondo.json	up-regulation of fertilization|up-regulation of syngamy|up regulation of fertilization|up regulation of syngamy|activation of fertilization|activation of syngamy|positive regulation of syngamy|upregulation of fertilization|upregulation of syngamy	http://purl.obolibrary.org/obo/GO_1905516		
CHEBI:38032	biolink:ChemicalSubstance	carbotricyclic compound	A carbopolyclic compound comprising of three carbocyclic rings.		mondo.json	carbotricyclic compounds	http://purl.obolibrary.org/obo/CHEBI_38032		
HGNC:4206	biolink:NamedThing	OPN1MW			mondo.json		http://identifiers.org/hgnc/4206		
HGNC:4204	biolink:NamedThing	GCNT2			mondo.json		http://identifiers.org/hgnc/4204		
GO:0051100	biolink:NamedThing	negative regulation of binding	Any process that stops or reduces the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule.		mondo.json	down-regulation of binding|down regulation of binding|inhibition of binding|downregulation of binding	http://purl.obolibrary.org/obo/GO_0051100		
GO:0051101	biolink:NamedThing	regulation of DNA binding	Any process that modulates the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid).		mondo.json		http://purl.obolibrary.org/obo/GO_0051101		
HGNC:6860	biolink:NamedThing	MAP3K8			mondo.json		http://identifiers.org/hgnc/6860		
GO:0002184	biolink:NamedThing	cytoplasmic translational termination	The process resulting in the release of a polypeptide chain from the ribosome in the cytoplasm, usually in response to a termination codon.		mondo.json		http://purl.obolibrary.org/obo/GO_0002184		
MONDO:0022180	biolink:Disease	chromosome 16 trisomy		NCIT:C37866|GARD:0007060	mondo.json	trisomy 16|trisomy chromosome 16|mosaic trisomy 16	http://purl.obolibrary.org/obo/MONDO_0022180		gard_rare
GO:0099094	biolink:NamedThing	ligand-gated cation channel activity	Enables the transmembrane transfer of an inorganic cation by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts.		mondo.json		http://purl.obolibrary.org/obo/GO_0099094		
GO:0002181	biolink:NamedThing	cytoplasmic translation	The chemical reactions and pathways resulting in the formation of a protein in the cytoplasm. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein.		mondo.json		http://purl.obolibrary.org/obo/GO_0002181		
GO:0002182	biolink:NamedThing	cytoplasmic translational elongation	The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis in the cytoplasm.		mondo.json		http://purl.obolibrary.org/obo/GO_0002182		
GO:0002183	biolink:NamedThing	cytoplasmic translational initiation	The process preceding formation of the peptide bond between the first two amino acids of a protein in the cytoplasm. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA.		mondo.json		http://purl.obolibrary.org/obo/GO_0002183		
ENVO:01001483	biolink:NamedThing	surface of an astronomical body	A surface layer where the solid or liquid material of an astronomical body comes into contact with an atmosphere or outer space.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001483		
MONDO:0022177	biolink:Disease	chromosome 13q trisomy		GARD:0001929|MESH:C535485|Orphanet:262932|UMLS:C0795849	mondo.json	13q duplication|trisomy 13q|Duplication 13q|partial trisomy of chromosome 13q|partial duplication of the long arm of chromosome 13|chromosome 13q duplication|partial duplication of chromosome 13q|partial trisomy 13q|13q trisomy|partial trisomy of the long arm of chromosome 13|partial duplication of the long arm of chromosome type 13	http://purl.obolibrary.org/obo/MONDO_0022177	http://identifiers.org/mesh/C535485|Orphanet:262932	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0022178	biolink:Disease	chromosome 13q-mosaicism		MESH:C535486|UMLS:CN037259	mondo.json	Mosiacism of chromosome 13q	http://purl.obolibrary.org/obo/MONDO_0022178	http://identifiers.org/mesh/C535486|UMLS:CN037259	
ENVO:01001477	biolink:NamedThing	liquid astronomical body part	A part of an astronomical body which is primarily composed of a continuous volume of liquid material, shaped by one or more environmental processes.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001477		
ENVO:01001476	biolink:NamedThing	body of liquid			mondo.json		http://purl.obolibrary.org/obo/ENVO_01001476		
ENVO:01001479	biolink:NamedThing	fluid astronomical body part	A part of an astronomical body which is primarily composed of a continuous volume of liquid or gaseous material, shaped by one or more environmental processes.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001479		
ENVO:01001478	biolink:NamedThing	gaseous astronomical body part	A part of an astronomical body which is primarily composed of a continuous volume of gaseous material, shaped by one or more environmental processes.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001478		
MONDO:0022171	biolink:Disease	chromhidrosis	A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms.	SCTID:26147006|GARD:0010749|ICD9:705.89|ICD10CM:L75.1	mondo.json	chromhidrosis|secretion of colored sweat	http://purl.obolibrary.org/obo/MONDO_0022171	http://identifiers.org/snomedct/26147006|http://purl.bioontology.org/ontology/ICD10CM/L75.1	gard_rare
MONDO:0022173	biolink:Disease	chromosome 11q trisomy		Orphanet:262923|MESH:C538297|GARD:0001923	mondo.json	partial duplication of the long arm of chromosome type 11|partial trisomy 11q|11q trisomy|Duplication 11q|partial trisomy of chromosome 11q|11q duplication|partial duplication of the long arm of chromosome 11|partial duplication of chromosome 11q|trisomy 11q|chromosome 11q duplication|partial trisomy of the long arm of chromosome 11	http://purl.obolibrary.org/obo/MONDO_0022173	Orphanet:262923|http://identifiers.org/mesh/C538297	ordo_group_of_disorders|disease_grouping
MONDO:0022174	biolink:Disease	chromosome 12p deletion	A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12.	MESH:C538302|MESH:C538301|GARD:0006068|Orphanet:316244|NCIT:C36410|UMLS:C0795844	mondo.json	monosomy 12p|loss of chromosome 12p|12p deletion|partial deletion of the short arm of chromosome 12|12p monosomy|12p-|partial monosomy 12p|12p del|partial deletion of the short arm of chromosome type 12|del(12p)|partial deletion of chromosome 12p|deletion 12p|partial monosomy of the short arm of chromosome 12|partial monosomy of chromosome 12p	http://purl.obolibrary.org/obo/MONDO_0022174	http://identifiers.org/mesh/C538302|http://identifiers.org/mesh/C538301|Orphanet:316244|UMLS:C0795844	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0010198	biolink:Disease	Wernicke-Korsakoff syndrome	Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the 'acute' phase and Korsakoff's syndrome represents the 'chronic' phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases (cancer, AIDS, infections), bariatric surgery, transplants, or the effects of chemotherapy. Studies indicate that there may be some genetic predisposition for the disease.Treatment involves supplementing the diet with thiamine. Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed.	EFO:1001242|SCTID:69482004|OMIM:277730|GARD:0006843|DOID:10915|MedDRA:10047913|NCIT:C35764|MESH:C538669	mondo.json	Korsakoff's psychosis|Korsakoff's syndrome|alcohol-induced encephalopathy|Korsakoff syndrome|Wernicke-Korsakoff syndrome|Wernicke encephalopathy|Korsakov psychosis|Korsakov's psychosis|transketolase defect	http://purl.obolibrary.org/obo/MONDO_0010198	https://omim.org/entry/277730|DOID:10915|http://identifiers.org/mesh/C538669|NCIT:C35764|http://identifiers.org/snomedct/69482004	gard_rare
MONDO:0010197	biolink:Disease	whistling face syndrome, recessive form		MESH:C536699|UMLS:C1848470|OMIM:277720|DOID:0111606|GARD:0010024	mondo.json	whistling face syndrome, recessive form	http://purl.obolibrary.org/obo/MONDO_0010197	DOID:0111606|https://omim.org/entry/277720|UMLS:C1848470|http://identifiers.org/mesh/C536699	gard_rare
MONDO:0034186	biolink:Disease	autosomal recessive extra-oral halitosis		Orphanet:562538	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034186	Orphanet:562538	ordo_disease
MONDO:0010199	biolink:Disease	white forelock with malformations	White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.	SCTID:763619009|UMLS:C1848463|GARD:0010081|Orphanet:2475|OMIM:277740|MESH:C536700	mondo.json	white forelock with malformations	http://purl.obolibrary.org/obo/MONDO_0010199	http://identifiers.org/snomedct/763619009|http://identifiers.org/mesh/C536700|https://omim.org/entry/277740|UMLS:C1848463|Orphanet:2475	ordo_malformation_syndrome|gard_rare
MONDO:0010190	biolink:Disease	pontocerebellar hypoplasia type 2A		OMIM:277470|DOID:0060267|MESH:C564738|GARD:0003631	mondo.json	PCH2A|Pch2|pontocerebellar hypoplasia type 2 caused by mutation in TSEN54|pontocerebellar hypoplasia, type 2A|microcephaly pontocerebellar hypoplasia dyskinesia|Volendam neurodegenerative disease|pontocerebellar hypoplasia with progressive cerebral atrophy|TSEN54 pontocerebellar hypoplasia type 2	http://purl.obolibrary.org/obo/MONDO_0010190	https://omim.org/entry/277470|DOID:0060267|http://identifiers.org/mesh/C564738	gard_rare
MONDO:0010192	biolink:Disease	Waardenburg syndrome type 4A	A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB.	OMIM:277580|DOID:0110953	mondo.json	WS4A|Waardenburg syndrome type 4A|Waardenburg syndrome type IVA|EDNRB Waardenburg syndrome|Waardenburg-Shah syndrome|Shah-Waardenburg syndrome|Ws4|Waardenburg syndrome with Hirschsprung disease type 4A|Waardenburg syndrome caused by mutation in EDNRB|Waardenburg syndrome with Hirschsprung disease, type 4A|Waardenburg syndrome, type 4A	http://purl.obolibrary.org/obo/MONDO_0010192	https://omim.org/entry/277580|DOID:0110953	
MONDO:0010191	biolink:Disease	von Willebrand disease 3	Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII).	NCIT:C85213|MESH:D056729|DOID:0111054|Orphanet:166096|OMIM:277480|SCTID:128108002|UMLS:C1264041	mondo.json	von Willebrand's disease 3|von Willebrand disease type 3|VWD3|Von Willebrand disease, type 3|VWD type 3|von Willebrand's disease type 3|VON WILLEBRAND disease, type 3|von Willebrand disease type III|VWD, type 3|von Willebrand disease 3	http://purl.obolibrary.org/obo/MONDO_0010191	NCIT:C85213|Orphanet:166096|http://identifiers.org/snomedct/128108002|http://identifiers.org/mesh/D056729|DOID:0111054|UMLS:C1264041|https://omim.org/entry/277480	ordo_clinical_subtype
MONDO:0010194	biolink:Disease	Weill-Marchesani syndrome 1	Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene.	OMIM:277600	mondo.json	Weill-Marchesani syndrome, autosomal recessive|mesodermal Dysmorphodystrophy, congenital|Weill-Marchesani syndrome 1|spherophakia-brachymorphia syndrome|Weill-Marchesani syndrome caused by mutation in ADAMTS10|WMS1|Weill-Marchesani syndrome type 1|Weill-Marchesani syndrome 1, recessive|ADAMTS10 Weill-Marchesani syndrome	http://purl.obolibrary.org/obo/MONDO_0010194	https://omim.org/entry/277600	
MONDO:0010193	biolink:Disease	Weaver syndrome	Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.	GTR:AN0102079|UMLS:C0265210|DOID:14731|OMIM:277590|ICD9:759.89|NCIT:C125599|GTR:AN0102080|Orphanet:3447|UMLS:CN036342|GARD:0007878|SCTID:63119004|MESH:C536687	mondo.json	WEAVER syndrome|Weaver syndrome|EZH2 related overgrowth|Weaver-like syndrome|WVS|overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly|Weaver Smith syndrome|Weaver-Smith syndrome|camptodactyly-overgrowth-unusual facies syndrome|Weaver like syndrome|Weaver Williams syndrome|mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate|WEAVER-like syndrome|intellectual disability, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate|camptodactyly - overgrowth - unusual facies	http://purl.obolibrary.org/obo/MONDO_0010193	https://omim.org/entry/277590|UMLS:CN036342|NCIT:C125599|http://identifiers.org/snomedct/63119004|Orphanet:3447|UMLS:C0265210|http://identifiers.org/mesh/C536687|DOID:14731	ordo_malformation_syndrome
MONDO:0010196	biolink:Disease	Werner syndrome	Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.	UMLS:C0043119|NCIT:C3447|GARD:0007885|ICD9:259.8|OMIM:277700|MESH:D014898|Orphanet:902|MedDRA:10049429|SCTID:51626007|DOID:5688	mondo.json	adult progeria|Werner's syndrome|Werner syndrome|WS|WRN|adult premature ageing syndrome	http://purl.obolibrary.org/obo/MONDO_0010196	Orphanet:902|https://omim.org/entry/277700|http://identifiers.org/snomedct/51626007|NCIT:C3447|UMLS:C0043119|http://identifiers.org/mesh/D014898|DOID:5688	ordo_disease
MONDO:0034189	biolink:Disease	primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome		Orphanet:562639	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034189	Orphanet:562639	ordo_disease
MONDO:0010195	biolink:Disease	obsolete Weissenbacher-Zweymuller syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010195		
HGNC:21181	biolink:NamedThing	SUMO4			mondo.json		http://identifiers.org/hgnc/21181		
MONDO:0009189	biolink:Disease	multiple epiphyseal dysplasia type 4	Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.	OMIM:226900|UMLS:C1847593|GARD:0009793|MESH:C535504|DOID:0070300|SCTID:715672007|Orphanet:93307|ICD10CM:Q77.3	mondo.json	EDM4|epiphyseal dysplasia, multiple, type 4|multiple epiphyseal dysplasia with clubfoot|multiple epiphyseal dysplasia with double-layered patella|epiphyseal dysplasia, multiple, 4|epiphyseal dysplasia multiple 4|Polyepiphyseal dysplasia type 4|multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2|rMED|MED4|multiple epiphyseal dysplasia with Bilayered patellae|multiple epiphyseal dysplasia 4|multiple epiphyseal dysplasia, autosomal recessive|autosomal recessive multiple epiphyseal dysplasia|SLC26A2 multiple epiphyseal dysplasia (disease)	http://purl.obolibrary.org/obo/MONDO_0009189	http://identifiers.org/snomedct/715672007|Orphanet:93307|DOID:0070300|UMLS:C1847593|https://omim.org/entry/226900|http://identifiers.org/mesh/C535504	ordo_disease
MONDO:0009188	biolink:Disease	epilepsy-telangiectasia syndrome	Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait.	OMIM:226850|UMLS:C1856929|GARD:0002168|Orphanet:1951|MESH:C535497	mondo.json	epilepsy telangiectasia|epilepsy-telangiectasia|mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency|intellectual disability, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency	http://purl.obolibrary.org/obo/MONDO_0009188	https://omim.org/entry/226850|Orphanet:1951|UMLS:C1856929|http://identifiers.org/mesh/C535497	ordo_disease
MONDO:0010187	biolink:Disease	vitamin K-dependent clotting factors, combined deficiency of, type 1	Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.	OMIM:277450|UMLS:C1848534|Orphanet:98434|SCTID:724356003|OMIM:607473|MESH:C564741	mondo.json	FMFD 3|glutamic acid, deficient gamma-carboxylation of|GGCX congenital vitamin K-dependent coagulation factors combined deficiency|vitamin K-dependent coagulation defect|VKCFD1|vitamin K-dependent clotting factors, combined deficiency of, 1|vitamin K-dependent clotting factors, combined deficiency of, type 1|congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in GGCX|Vkcfd|familial multiple coagulation Factor deficiency 3|multiple coagulation Factor deficiency 3|hereditary combined deficiency of factors II, VII, IX and X|factors II, VII, IX, and X, combined deficiency of|hereditary combined deficiency of vitamin K-dependent clotting factors	http://purl.obolibrary.org/obo/MONDO_0010187	https://omim.org/entry/277450|http://identifiers.org/mesh/C564741|http://identifiers.org/snomedct/724356003|UMLS:C1848534|Orphanet:98434	prototype_pattern|ordo_disease
MONDO:0009187	biolink:Disease	celiac disease-epilepsy-cerebral calcification syndrome	Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications.	UMLS:C1856930|OMIM:226810|Orphanet:1459|GARD:0002166|MESH:C535496	mondo.json	familial unilateral and bilateral occipital calcifications and epilepsy|CEC|bilateral occipital calcifications with epilepsy|epilepsy occipital calcifications|epilepsy with bilateral occipital calcifications|celiac disease, epilepsy, and cerebral calcification syndrome|celiac disease epilepsy occipital calcifications	http://purl.obolibrary.org/obo/MONDO_0009187	Orphanet:1459|https://omim.org/entry/226810|UMLS:C1856930|http://identifiers.org/mesh/C535496	ordo_disease
MONDO:0010186	biolink:Disease	vitamin D-dependent rickets, type 2A	Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia.	SCTID:237894002|NCIT:C131075|MESH:C562794|UMLS:C0342646|OMIM:277440	mondo.json	vitamin D dependent rickets 2a|rickets, hereditary vitamin D-resistant|rickets-alopecia syndrome|vitamin d-dependent rickets type II with alopecia|VDR vitamin D-dependent rickets, type 2|vitamin D-dependent rickets, type 2A, with or without alopecia|Pseudovitamin D-deficiency, type 2A|rickets, vitamin D-resistant, type IIA|generalized resistance to 1,25-dihydroxyvitamin D|vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol|vitamin D-dependent rickets, type 2A|hypocalcemic vitamin D-resistant rickets|vitamin D-dependent rickets, type 2 caused by mutation in VDR|Pddr 2A|vitamin D receptor deficiency rickets|VDDR2A|hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia	http://purl.obolibrary.org/obo/MONDO_0010186	NCIT:C131075|UMLS:C0342646|https://omim.org/entry/277440|http://identifiers.org/snomedct/237894002|http://identifiers.org/mesh/C562794	
MONDO:0009186	biolink:Disease	epilepsy, photogenic, with spastic diplegia and intellectual disability		OMIM:226800|UMLS:C1856931|MESH:C565587	mondo.json	epilepsy, photogenic, with spastic diplegia and mental retardation|epilepsy, photogenic, with spastic diplegia and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0009186	https://omim.org/entry/226800|UMLS:C1856931|http://identifiers.org/mesh/C565587	
MONDO:0010189	biolink:Disease	vitiligo, progressive, with intellectual disability and urethral duplication		UMLS:C1848532|MESH:C564739|OMIM:277465	mondo.json	vitiligo, progressive, with intellectual disability and urethral duplication|vitiligo, progressive, with mental retardation and urethral duplication	http://purl.obolibrary.org/obo/MONDO_0010189	https://omim.org/entry/277465|http://identifiers.org/mesh/C564739|UMLS:C1848532	
MONDO:0009185	biolink:Disease	amelocerebrohypohidrotic syndrome	Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.	Orphanet:1946|GARD:0003128|UMLS:C0406740|OMIM:226750|DOID:0111668|SCTID:109478007|MESH:C537213	mondo.json	amelocerebrohypohidrotic syndrome|Kohlschutter-Tonz syndrome|Kohlschutter Tonz syndrome|KOHLSCHUTTER-Tonz syndrome|epilepsy-dementia-amelogenesis imperfecta syndrome|epilepsy and Yellow teeth|epilepsy, dementia, and amelogenesis imperfecta|epilepsy dementia amelogenesis imperfecta|Kohlschutter syndrome|KTZS	http://purl.obolibrary.org/obo/MONDO_0009185	http://identifiers.org/mesh/C537213|UMLS:C0406740|https://omim.org/entry/226750|Orphanet:1946|DOID:0111668|http://identifiers.org/snomedct/109478007	ordo_malformation_syndrome
MONDO:0010188	biolink:Disease	familial isolated deficiency of vitamin E	Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.	MedDRA:10047631|SCTID:702442008|MESH:C535393|OMIM:277460|GARD:0008595|DOID:0090028|ICD9:334.3|ICD9:269.1|Orphanet:96	mondo.json	vitamin E, familial isolated deficiency OF|Friedreich-like ataxia with selective vitamin E deficiency|AVED|familial isolated vitamin E deficiency|Friedreich-like ataxia|isolated vitamin E deficiency|ataxia with vitamin E deficiency|VED|ataxia, Friedreich-like, with selective vitamin E deficiency|ataxia with isolated vitamin E deficiency|familial isolated deficiency of vitamin type E	http://purl.obolibrary.org/obo/MONDO_0010188	http://identifiers.org/mesh/C535393|DOID:0090028|https://omim.org/entry/277460|http://identifiers.org/snomedct/702442008|Orphanet:96	ordo_disease
MONDO:0009184	biolink:Disease	epidermolysis bullosa with diaphragmatic hernia		OMIM:226735|MESH:C565588	mondo.json	epidermolysis bullosa with diaphragmatic hernia	http://purl.obolibrary.org/obo/MONDO_0009184	https://omim.org/entry/226735|http://identifiers.org/mesh/C565588	
MONDO:0009183	biolink:Disease	junctional epidermolysis bullosa with pyloric atresia	Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.	UMLS:C1856934|GARD:0009694|Orphanet:79403|DOID:0060733|MESH:C535377|OMIM:226730	mondo.json	Carmi syndrome|epidermolysis bullosa, junctional, with pyloric stenosis|junctional epidermolysis bullosa with pyloric atresia|epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita|epidermolysis bullosa junctionalis with pyloric atresia|aplasia cutis congenita with gastrointestinal atresia|epidermolysis bullosa JUNCTIONALIS with pyloric atresia|epidermolysis bullosa, junctional, with pyloric atresia|junctional epidermolysis bullosa-pyloric atresia syndrome|JEB-Pa|EB-Pa-ACC|JEB-PA|junctional epidermolysis bullosa - pyloric atresia|epidermolysis bullosa with pyloric atresia	http://purl.obolibrary.org/obo/MONDO_0009183	https://omim.org/entry/226730|http://identifiers.org/mesh/C535377|UMLS:C1856934|Orphanet:79403|DOID:0060733	gard_rare|ordo_disease
MONDO:0009182	biolink:Disease	junctional epidermolysis bullosa Herlitz type	Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.	Orphanet:79404|OMIM:226700|SCTID:400140006|GARD:0002153|DOID:0060737	mondo.json	Herlitz-Pearson-type epidermolysis bullosa|epidermolysis bullosa, junctional, Herlitz-Pearson type|epidermolysis bullosa, junctional, Herlitz type|junctional epidermolysis bullosa, Herlitz-Pearson type|epidermolysis bullosa Junctionalis, Herlitz type|junctional epidermolysis bullosa, generalized severe|epidermolysis bullosa letalis|junctional epidermolysis bullosa, Herlitz type|JEB-Herlitz type|JEB-H|Herlitz type epidermolysis bullosa junctionalis|junctional epidermolysis bullosa generalisata gravis|Herlitz-Pearson type epidermolysis bullosa|JEB, generalized severe	http://purl.obolibrary.org/obo/MONDO_0009182	https://omim.org/entry/226700|Orphanet:79404|DOID:0060737|http://identifiers.org/snomedct/400140006	gard_rare|ordo_disease
MONDO:0009181	biolink:Disease	epidermolysis bullosa simplex 5B, with muscular dystrophy	A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.	Orphanet:257|MESH:C535955|GARD:0002137|SCTID:723308003|OMIM:226670|DOID:0090017|UMLS:C2931072	mondo.json	Epidermolysa bullosa simplex and limb girdle muscular dystrophy|epidermolysis bullosa simplex - limb girdle muscular dystrophy|Epidermolysa bullosa simplex with muscular dystrophy|limb-girdle muscular dystrophy with epidermolysis bullosa simplex|EBSMD|epidermolysis bullosa simplex with muscular dystrophy|EBS-MD|epidermolysis bullosa simplex 5B, with muscular dystrophy|MD-EBS|epidermolysis bullosa simplex and limb-girdle muscular dystrophy|MDEBS	http://purl.obolibrary.org/obo/MONDO_0009181	https://omim.org/entry/226670|Orphanet:257|DOID:0090017|UMLS:C2931072|http://identifiers.org/mesh/C535955|http://identifiers.org/snomedct/723308003	ordo_disease|gard_rare
NCBITaxon:740972	biolink:OrganismalEntity	Tritrichomonadida		GC_ID:1|PMID:20093080	mondo.json	Trichomonadida Kirby, 1947, emend. Brugerolle and Patterson, 2001	http://purl.obolibrary.org/obo/NCBITaxon_740972		
MONDO:0009180	biolink:Disease	junctional epidermolysis bullosa, non-Herlitz type	Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia.	UMLS:C2673609|Orphanet:79405|OMIM:226650|ICD9:757.39|SCTID:33662006|UMLS:C2673610|GARD:0002151|Orphanet:89840	mondo.json	JEB-nH|epidermolysis bullosa Junctionalis, progressive|JEB-I|epidermolysis bullosa, generalized atrophic benign|epidermolysis bullosa Junctionalis, severe Nonlethal|junctional epidermolysis bullosa inversa|epidermolysis bullosa, junctional, non-Herlitz type|JEN-nH|epidermolysis bullosa Junctionalis, Disentis type|epidermolysis bullosa, junctional, Localisata variant|epidermolysis bullosa Junctionalis, non-Herlitz type	http://purl.obolibrary.org/obo/MONDO_0009180	http://identifiers.org/snomedct/33662006|https://omim.org/entry/226650|Orphanet:89840	ordo_disease
NCBITaxon:740973	biolink:OrganismalEntity	Dientamoebidae		GC_ID:1	mondo.json	Protrichomonadinae	http://purl.obolibrary.org/obo/NCBITaxon_740973		
MONDO:0010181	biolink:Disease	oculogastrointestinal muscular dystrophy	Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction.	Orphanet:1876|ICD10CM:G71.0|GARD:0005496|SCTID:722060007|OMIM:277320	mondo.json	visceral myopathy, familial, with external ophthalmoplegia|visceral myopathy - familial external ophthalmoplegia|familial visceral myopathy with external ophthalmoplegia|visceral myopathy-familial external ophthalmoplegia syndrome|muscular dystrophy, oculogastrointestinal|intestinal pseudoobstruction with external ophthalmoplegia	http://purl.obolibrary.org/obo/MONDO_0010181	http://identifiers.org/snomedct/722060007|https://omim.org/entry/277320|Orphanet:1876	ordo_disease
MONDO:0010180	biolink:Disease	autosomal recessive spondylocostal dysostosis	Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.	MESH:C535781|Orphanet:2311|SCTID:61367005|UMLS:CN032975|ICD9:756.9	mondo.json	Jarcho-Levin syndrome|spondylocostal dysostosis 1, autosomal recessive|costovertebral dysplasia|spondylocostal dysostosis, autosomal recessive|SCDO1	http://purl.obolibrary.org/obo/MONDO_0010180	http://identifiers.org/mesh/C535781|Orphanet:2311|http://identifiers.org/snomedct/61367005|UMLS:CN032975	ordo_malformation_syndrome
PATO:0015008	biolink:NamedThing	distensibility	A quality inhering in a bearer by virtue of the extent to which the bearer is capable of being stretched or swollen.		mondo.json		http://purl.obolibrary.org/obo/PATO_0015008		
MONDO:0010183	biolink:Disease	methylmalonic aciduria and homocystinuria type cblF	A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner.	SCTID:80887004|GARD:0003584|DOID:0050717|MESH:C564747|OMIM:277380|Orphanet:79284	mondo.json	combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF|vitamin B12 lysosomal release defect|MAHCF|cblF methylmalonic acidemia and homocystinuria|cobalamin, defect in lysosomal release of|lysosomal membrane cobalamin transporter deficiency|vitamin B12 storage disease|methylmalonic aciduria due to vitamin B12-release defect|cobalamin locus f variant|methylmalonic aciduria and homocystinuria, cblF type|cobalamin F deficiency|methylmalonic aciduria and homocystinuria type cblF|cobalamin F defect|inherited methylmalonic acidemia and homocystinuria|methylmalonic acidemia with homocystinuria type cblF|methylmalonic acidemia and homocystinuria, cblF type|cblF defect|methylmalonic aciduria with homocystinuria, type cblF|cobalamin F disease	http://purl.obolibrary.org/obo/MONDO_0010183	Orphanet:79284|https://omim.org/entry/277380|http://identifiers.org/mesh/C564747|http://identifiers.org/snomedct/80887004|DOID:0050717	ordo_clinical_subtype
MONDO:0010182	biolink:Disease	hypercarotenemia and vitamin A deficiency, autosomal recessive		MESH:C567486|UMLS:C2678266|OMIM:277350	mondo.json	hypercarotenemia and vitamin A deficiency, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0010182	https://omim.org/entry/277350|UMLS:C2678266|http://identifiers.org/mesh/C567486	
MONDO:0010185	biolink:Disease	methylmalonic aciduria and homocystinuria type cblD	A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.	Orphanet:308380|Orphanet:622|OMIM:277410|Orphanet:79283|GARD:0003582|DOID:0050716|SCTID:31220004|Orphanet:308442|Orphanet:28|MESH:C564743|UMLS:CN205879	mondo.json	methylmalonic acidemia with homocystinuria, type cblD|methylmalonic aciduria, Cblh type|methylmalonic aciduria with homocystinuria, type cblD|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD|homocystinuria, cblD type, variant 1, included|m0e.321 cobalamin locus d variant|methylmalonic acidemia and homocystinuria, cblD type|methylmalonic acidemia with homocystinuria type cblD|cblD methylmalonic acidemia and homocystinuria|cobalamin D deficiency|methylmalonic aciduria, cblD type, variant 2|methylmalonic acidemia, Cblh type, formerly|cobalamin D defect|methylmalonic acidemia, Cblh type|cblD - cobalamin locus d|Mehtylmalonic acidemia with homocystinuria cbI d|cblD defect|methylmalonic aciduria, cblD type, variant 2, included|MAHCD|cobalamin d disease|homocystinuria, cblD type, variant 1|methylmalonic aciduria, Cblh type, formerly|methylmalonic aciduria and homocystinuria type cblD|methylmalonic aciduria and homocystinuria, cblD type	http://purl.obolibrary.org/obo/MONDO_0010185	DOID:0050716|Orphanet:79283|http://identifiers.org/mesh/C564743|https://omim.org/entry/277410|http://identifiers.org/snomedct/31220004|UMLS:CN205879	ordo_clinical_subtype
MONDO:0010184	biolink:Disease	methylmalonic aciduria and homocystinuria type cblC	A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.	OMIM:277400|Orphanet:79282|DOID:0050715|SCTID:74653006|GARD:0012128|NCIT:C142174|UMLS:CN205878	mondo.json	combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC|vitamin B12 metabolic defect with combined deficiency of methylmalonyl-Coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|cblC|methylmalonic acidemia and homocystinuria, cblC type|cobalamin C deficiency|cblC methylmalonic acidemia and homocystinuria|methylmalonic aciduria and homocystinuria cblC|cobalamin C defect|methylmalonic aciduria and homocystinuria, cblC type, digenic|methylmalonic aciduria and homocystinuria, vitamin B12-responsive|cblC defect|methylmalonic acidemia and homocystinuria cblC|cobalamin locus c variant|MAHCC|cobalamin c disease|cblC - cobalamin locus c|methylmalonic aciduria and homocystinuria, cblC type|methylmalonic acidemia with homocystinuria type cblC|methylmalonic aciduria and homocystinuria type cblC|methylmalonic aciduria with homocystinuria, type cblC|methylmalonic acidemia with homocystinuria, type cblC	http://purl.obolibrary.org/obo/MONDO_0010184	DOID:0050715|Orphanet:79282|https://omim.org/entry/277400|NCIT:C142174|UMLS:CN205878|http://identifiers.org/snomedct/74653006	ordo_clinical_subtype
HP:0011220	biolink:PhenotypicFeature	Prominent forehead	Forward prominence of the entire forehead, due to protrusion of the frontal bone.	UMLS:C1867446|UMLS:C1837260	mondo.json	Prominence of frontal region|Prominent forehead|Protruding forehead|Bulging forehead|Pronounced forehead	http://purl.obolibrary.org/obo/HP_0011220		hposlim_core
HP:0011226	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the eyelid	Absence or underdevelopment of the eyelid.	UMLS:C4023453	mondo.json	Failure of development of eyelid|Hypotrophic eyelid	http://purl.obolibrary.org/obo/HP_0011226		
HGNC:21191	biolink:NamedThing	DAOA			mondo.json		http://identifiers.org/hgnc/21191		
GO:0099081	biolink:NamedThing	supramolecular polymer	A polymeric supramolecular structure.		mondo.json		http://purl.obolibrary.org/obo/GO_0099081		
MONDO:0022151	biolink:Disease	Chitty Hall Webb syndrome		UMLS:C2931066|GARD:0001277|MESH:C535929|SCTID:725103004	mondo.json	bowed tibiae, radial anomalies, osteopenia, multiple fractures and developmental delay	http://purl.obolibrary.org/obo/MONDO_0022151	http://identifiers.org/mesh/C535929|UMLS:C2931066|http://identifiers.org/snomedct/725103004	gard_rare
MONDO:0009199	biolink:Disease	ethanolaminosis		SCTID:64235006|UMLS:C0268423|MESH:C562651|ICD9:270.8|OMIM:227150	mondo.json	ethanolamine kinase deficiency|ethanolaminosis	http://purl.obolibrary.org/obo/MONDO_0009199	https://omim.org/entry/227150|UMLS:C0268423|http://identifiers.org/snomedct/64235006|http://identifiers.org/mesh/C562651	
HGNC:21197	biolink:NamedThing	FA2H			mondo.json		http://identifiers.org/hgnc/21197		
GO:0099080	biolink:NamedThing	supramolecular complex	A cellular component that consists of an indeterminate number of proteins or macromolecular complexes, organized into a regular, higher-order structure such as a polymer, sheet, network or a fiber.		mondo.json		http://purl.obolibrary.org/obo/GO_0099080		
MONDO:0010176	biolink:Disease	orofaciodigital syndrome type 6	Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.	UMLS:C2745997|MESH:C536531|DOID:0060376|GARD:0004412|OMIM:277170|SCTID:721873007|NCIT:C124841|Orphanet:2754	mondo.json	Varadi syndrome|Varadi-Papp syndrome|Joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|orofaciodigital syndrome VI|orofaciodigital syndrome 6|orofaciodigital syndrome type 6|polydactyly cleft lip palate psychomotor retardation|Váradi-Papp syndrome|oral-Facial-digital syndrome, type 6|polydactyly, cleft Lip/palate or lingual lump, and psychomotor retardation|Váradi syndrome|Joubert syndrome with oral-facial-digital syndrome|polydactyly - cleft lip/palate - psychomotor retardation|polydactyly-cleft lip/palate-psychomotor retardation syndrome|Ofds 6|OFD6	http://purl.obolibrary.org/obo/MONDO_0010176	http://identifiers.org/mesh/C536531|http://identifiers.org/snomedct/721873007|https://omim.org/entry/277170|DOID:0060376|UMLS:C2745997|NCIT:C124841|Orphanet:2754	gard_rare|ordo_disease
MONDO:0009198	biolink:Disease	congenital lethal erythroderma	A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.	GARD:0002192|OMIM:227090|MESH:C535513|SCTID:722391005|Orphanet:1954	mondo.json	erythroderma, lethal congenital|congenital exfoliative erythroderma resistant to treatment|lethal congenital erythroderma|erythroderma lethal congenital	http://purl.obolibrary.org/obo/MONDO_0009198	Orphanet:1954|http://identifiers.org/snomedct/722391005|http://identifiers.org/mesh/C535513|https://omim.org/entry/227090	ordo_disease|gard_rare
MONDO:0010175	biolink:Disease	van Bogaert-Hozay syndrome		MESH:C536526|OMIM:277150|GARD:0008415|UMLS:C1848598	mondo.json	van Bogaert-Hozay syndrome|A familial form of acro-osteolysis associated with a mild mental retardation, skin atrophy, facial dysmorphism, and ocular defects|A familial form of acro-osteolysis associated with a mild intellectual disability, skin atrophy, facial dysmorphism, and ocular defects|Hozay’s syndrome|Hozay's syndrome|acro-osteolysis-facial dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0010175	http://identifiers.org/mesh/C536526|https://omim.org/entry/277150|UMLS:C1848598	gard_rare
MONDO:0009197	biolink:Disease	transient erythroblastopenia of childhood	An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy.	NCIT:C131683|UMLS:C0238478|Orphanet:98871|ICD9:284.81|MESH:C536980|SCTID:191255003|UMLS:C0451688|OMIM:227050|GARD:0007793	mondo.json	tec|transient erythroblastopenia of childhood|familial transient erythroblastopenia of childhood|erythroblastopenia, transient|transient acquired pure red cell aplasia	http://purl.obolibrary.org/obo/MONDO_0009197	UMLS:C0238478|UMLS:C0451688|Orphanet:98871|http://identifiers.org/mesh/C536980|NCIT:C131683|http://identifiers.org/snomedct/191255003|https://omim.org/entry/227050	gard_rare|ordo_disease
MONDO:0009196	biolink:Disease	ermine phenotype	A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging.	UMLS:C0268501|MEDGEN:82812|Orphanet:999|ICD10CM:E70.3|UMLS:C1856899|ICD9:270.2|OMIM:227010|MESH:C562663|SCTID:10170007|GARD:0000407|MESH:C535508	mondo.json	BADS|black locks, oculocutaneous albinism, and deafness of the sensorineural type|pigmentary disorder with hearing loss|black locks with albinism and deafness syndrome|ermine phenotype|BADS syndrome|O'Doherty syndrome	http://purl.obolibrary.org/obo/MONDO_0009196	http://identifiers.org/snomedct/10170007|UMLS:C1856899|http://identifiers.org/mesh/C535508|Orphanet:999|http://identifiers.org/mesh/C562663|https://omim.org/entry/227010|UMLS:C0268501	ordo_malformation_syndrome|gard_rare
MONDO:0010178	biolink:Disease	congenital bilateral aplasia of vas deferens from CFTR mutation	An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis.	NCIT:C129303|OMIM:277180	mondo.json	CBAVD|CAVD|vas deferens, congenital bilateral aplasia of|congenital bilateral absence of vas deferens|congenital bilateral aplasia of the vas deferens	http://purl.obolibrary.org/obo/MONDO_0010178	NCIT:C129303|https://omim.org/entry/277180	
MONDO:0010177	biolink:Disease	vascular hyalinosis	A syndrome characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and greying hair, as well as severe diarrhoea, rectal bleeding, malabsorption and subarachnoid hemorrhage.	GARD:0004635|OMIM:277175|MESH:C564750|Orphanet:3018	mondo.json	retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome|digestive tract and renal small vessel hyalinosis, intracerebral calcifications, retinal ischemic syndrome and phenotypic a|Rambaud-Gallian syndrome|vascular hyalinosis|Rambaud-Gallian-Touchard syndrome	http://purl.obolibrary.org/obo/MONDO_0010177	https://omim.org/entry/277175|http://identifiers.org/mesh/C564750|Orphanet:3018	ordo_malformation_syndrome
MONDO:0009195	biolink:Disease	erythema of acral regions		OMIM:227000	mondo.json	erythema of acral regions	http://purl.obolibrary.org/obo/MONDO_0009195	https://omim.org/entry/227000	
MONDO:0009194	biolink:Disease	immunodeficiency 32B	A rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV.	Orphanet:2566|OMIM:614894|GARD:0009534|OMIM:226990	mondo.json	CAEBV syndrome|immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive|IMD32B|IRF8 deficiency, autosomal recessive|CAEBV infection|chronic Epstein-Barr virus infection syndrome|chronic active Epstein-Barr virus infection|chronic EBV infection syndrome|CEBV|immunodeficiency 32B, monocyte, Dendritic cell, and natural Killer cell deficiency, autosomal recessive|immunodeficiency 32B|Epstein-Barr VIRUS, susceptibility to chronic infection by|chronic active Epstein-Barr disease|monocyte and dendritic cell deficiency, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009194	Orphanet:2566|https://omim.org/entry/226990|https://omim.org/entry/614894	ordo_disease|gard_rare
MONDO:0010179	biolink:Disease	isolated right ventricular hypoplasia	Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy.	OMIM:277200|GARD:0004721|SCTID:718135001|MESH:C535682|UMLS:C1848587|Orphanet:439	mondo.json	isolated hypoplasia of the right ventricle|Irvh|right ventricular hypoplasia, isolated|hypoplasia of the right ventricle|right ventricular hypoplasia|right ventricle hypoplasia	http://purl.obolibrary.org/obo/MONDO_0010179	Orphanet:439|https://omim.org/entry/277200|http://identifiers.org/snomedct/718135001|http://identifiers.org/mesh/C535682|UMLS:C1848587	ordo_morphological_anomaly
MONDO:0009193	biolink:Disease	epithelial squamous dysplasia, keratinizing desquamative, of urinary tract		OMIM:226985|MESH:C565584|UMLS:C1856902	mondo.json	epithelial squamous dysplasia, keratinizing desquamative, of urinary tract	http://purl.obolibrary.org/obo/MONDO_0009193	https://omim.org/entry/226985|http://identifiers.org/mesh/C565584|UMLS:C1856902	
MONDO:0009192	biolink:Disease	Wolcott-Rallison syndrome	Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.	Orphanet:1667|GARD:0005589|NCIT:C131007|DOID:0090060|UMLS:C0432217|SCTID:254066006|MESH:C536739|OMIM:226980	mondo.json	early-onset diabetes mellitus with multiple epiphyseal dysplasia|Wolcott-Rallison syndrome|epiphyseal dysplasia multiple with early-onset diabetes mellitus|WRS|Iddm-Med syndrome|IDDM-MED syndrome|MED-IDDM syndrome|Med-Iddm syndrome|epiphyseal dysplasia, multiple, with early-onset diabetes mellitus|Wolcott Rallison syndrome	http://purl.obolibrary.org/obo/MONDO_0009192	Orphanet:1667|https://omim.org/entry/226980|NCIT:C131007|DOID:0090060|http://identifiers.org/mesh/C536739|UMLS:C0432217|http://identifiers.org/snomedct/254066006	ordo_disease|gard_rare
MONDO:0009191	biolink:Disease	Lowry-Wood syndrome	Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.	SCTID:721975004|UMLS:C0796021|Orphanet:1824|OMIM:226960|MESH:C537038|GARD:0000264|MedDRA:10062600	mondo.json	epiphyseal dysplasia-microcephaly-nystagmus syndrome|Lowry-Wood syndrome|LWS|epiphyseal dysplasia, microcephaly, and NYSTAGMUS|Lowry Wood syndrome|epiphyseal dysplasia, microcephaly and nystagmus	http://purl.obolibrary.org/obo/MONDO_0009191	Orphanet:1824|https://omim.org/entry/226960|http://identifiers.org/snomedct/721975004|UMLS:C0796021|http://identifiers.org/mesh/C537038	ordo_disease|gard_rare
MONDO:0009190	biolink:Disease	epiphyseal dysplasia of femoral head, myopia, and deafness		UMLS:C1856918|OMIM:226950|MESH:C565585	mondo.json	epiphyseal dysplasia of femoral head, myopia, and deafness	http://purl.obolibrary.org/obo/MONDO_0009190	https://omim.org/entry/226950|http://identifiers.org/mesh/C565585|UMLS:C1856918	
NCIT:C36104	biolink:NamedThing	Aggressive Clinical Course			mondo.json		http://purl.obolibrary.org/obo/NCIT_C36104		
MONDO:0010170	biolink:Disease	Usher syndrome type 3A	Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene.	OMIM:276902|DOID:0110841|ICD10CM:H35.5	mondo.json	Usher syndrome type 3A|Usher syndrome caused by mutation in CLRN1|CLRN1 Usher syndrome|Usher syndrome type IIIA|USH3A|Usher syndrome, type 3|USHER syndrome, type IIIA|Usher syndrome, type 3A	http://purl.obolibrary.org/obo/MONDO_0010170	DOID:0110841|https://omim.org/entry/276902	
MONDO:0010172	biolink:Disease	VACTERL with hydrocephalus	VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.	UMLS:C1848599|GARD:0000272|OMIM:276950|Orphanet:3412	mondo.json	VACTERL hydrocephaly|vertebral (V), anal (A), cardiac (C), tracheoesophageal (te), renal (R) and limb (L) anomalies and hydrocephaly|VACTERL association with hydrocephalus|Vater association with hydrocephalus|Sujansky-Leonard syndrome|Vater association with macrocephaly and ventriculomegaly|VACTERL association with hydrocephaly|VACTERL-H	http://purl.obolibrary.org/obo/MONDO_0010172	https://omim.org/entry/276950|UMLS:C1848599|Orphanet:3412	ordo_malformation_syndrome
MONDO:0010171	biolink:Disease	Usher syndrome type 1C	A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner.	GARD:0005437|OMIM:276904|UMLS:C1848604|DOID:0110830|ICD10CM:H35.5	mondo.json	USH1C|Usher syndrome, type I, Acadian variety|Usher syndrome type IC|USHER syndrome, type IC|Usher syndrome type I Acadian variety|Usher syndrome, Acadian variety|Usher syndrome, type 1C|Usher syndrome type 1C	http://purl.obolibrary.org/obo/MONDO_0010171	DOID:0110830|https://omim.org/entry/276904|UMLS:C1848604	gard_rare
MONDO:0010174	biolink:Disease	Valinemia	Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine.Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzymevaline transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes adiet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal.	MESH:C536524|GARD:0007845|SCTID:47719001|UMLS:C0268573|OMIM:277100	mondo.json	hypervalinemia|valine transaminase deficiency|Valinemia	http://purl.obolibrary.org/obo/MONDO_0010174	http://identifiers.org/mesh/C536524|https://omim.org/entry/277100|http://identifiers.org/snomedct/47719001|UMLS:C0268573	gard_rare
MONDO:0010173	biolink:Disease	Mayer-Rokitansky-Kuster-Hauser syndrome type 1	Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.	ICD9:752.49|SCTID:8793008|OMIM:277000|Orphanet:247775|GARD:0007100	mondo.json	Mrk anomaly|genital renal ear syndrome|Mayer-Rokitansky-Küster-Hauser syndrome type 1|Müllerian agenesis|Von Mayer-Rokitansky-Kuster anomaly|congenital absence of the uterus and vagina (CAUV)|MRKH syndrome|MRKH anomaly|MRKH syndrome type 1|Mullerian dysgenesis|uterus Bipartitus solidus Rudimentarius cum vagina Solida|Mullerian aplasia/dysgenesis|Rokitansky syndrome|Mayer-Rokitansky-KUSTER-Hauser syndrome|urogenital adysplasia|Rokitansky sequence|congenital absence of uterus and vagina|Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH)	http://purl.obolibrary.org/obo/MONDO_0010173	https://omim.org/entry/277000|Orphanet:247775|http://identifiers.org/snomedct/8793008	ordo_clinical_subtype|gard_rare
HP:0011297	biolink:PhenotypicFeature	Abnormal digit morphology	A morphological abnormality of a digit, i.e., of a finger or toe.	UMLS:C3550704	mondo.json	Abnormality of digit|Digital anomalies|Abnormality of fingers or toes	http://purl.obolibrary.org/obo/HP_0011297		hposlim_core
GO:0016787	biolink:NamedThing	hydrolase activity	Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc.		mondo.json		http://purl.obolibrary.org/obo/GO_0016787		
GO:0016788	biolink:NamedThing	hydrolase activity, acting on ester bonds	Catalysis of the hydrolysis of any ester bond.		mondo.json	esterase activity	http://purl.obolibrary.org/obo/GO_0016788		
ENVO:01001434	biolink:NamedThing	anthropogenic ecosystem conversion process	A process during which an ecosystem - natural or anthropised - is changed by the actions of humans.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001434		
HP:0011280	biolink:PhenotypicFeature	Abnormality of urine calcium concentration	An abnormality of calcium concentration in the urine.	UMLS:C4023434	mondo.json	Abnormality of urine Ca2+ concentration|Abnormality of urine Ca concentration	http://purl.obolibrary.org/obo/HP_0011280		
HP:0011282	biolink:PhenotypicFeature	Abnormality of hindbrain morphology	An abnormality of the hindbrain, also known as the rhombencephalon.	UMLS:C4021170	mondo.json	Abnormal shape of hindbrain|Abnormality of the hindbrain	http://purl.obolibrary.org/obo/HP_0011282		
HP:0011283	biolink:PhenotypicFeature	Abnormal metencephalon morphology	An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum.	UMLS:C4023432	mondo.json	Abnormality of the metencephalon	http://purl.obolibrary.org/obo/HP_0011283		
HGNC:21176	biolink:NamedThing	RMND1			mondo.json		http://identifiers.org/hgnc/21176		
MONDO:0034143	biolink:Disease	early-onset calcifying leukoencephalopathy-skeletal dysplasia		Orphanet:556985	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034143	Orphanet:556985	ordo_disease
MONDO:0034142	biolink:Disease	pancreatic agenesis-holoprosencephaly syndrome		Orphanet:556955	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034142	Orphanet:556955	ordo_disease
GO:0016798	biolink:NamedThing	hydrolase activity, acting on glycosyl bonds	Catalysis of the hydrolysis of any glycosyl bond.		mondo.json	glycosidase activity|N-glycosylase|glycosylase	http://purl.obolibrary.org/obo/GO_0016798		
MONDO:0034147	biolink:Disease	neonatal epileptic encephalopathy due to glutaminase deficiency		Orphanet:557064	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034147	Orphanet:557064	ordo_disease
MONDO:0034146	biolink:Disease	spastic ataxia-dysarthria due to glutaminase deficiency		Orphanet:557056	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034146	Orphanet:557056	ordo_disease
MONDO:0034145	biolink:Disease	oculocerebrodental syndrome		Orphanet:557003|OMIM:618440	mondo.json	Cataracts, Early-Onset, With Skeletal and Dental Anomalies|OCSKD|oculoskeletodental syndrome	http://purl.obolibrary.org/obo/MONDO_0034145	Orphanet:557003|https://omim.org/entry/618440	ordo_disease
GO:0016791	biolink:NamedThing	phosphatase activity	Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate.		mondo.json	para-nitrophenyl phosphatase activity|4-nitrophenylphosphatase activity|p-nitrophenylphosphate phosphohydrolase activity|phosphatase|phosphoric monoester hydrolase activity|p-nitrophenylphosphatase activity|4-nitrophenylphosphate phosphohydrolase activity|K-pNPPase activity|PNPPase activity|ecto-p-nitrophenyl phosphatase activity|NPPase activity|nitrophenyl phosphatase activity	http://purl.obolibrary.org/obo/GO_0016791		
HGNC:21144	biolink:NamedThing	DSE			mondo.json		http://identifiers.org/hgnc/21144		
HP:0011276	biolink:PhenotypicFeature	Vascular skin abnormality		SNOMEDCT_US:11263005|UMLS:C0162819|MSH:D017445|UMLS:C1842892	mondo.json	Vascular abnormalities restricted to skin|Skin vascular malformation	http://purl.obolibrary.org/obo/HP_0011276		
HP:0011277	biolink:PhenotypicFeature	Abnormality of the urinary system physiology		UMLS:C4023437	mondo.json		http://purl.obolibrary.org/obo/HP_0011277		
HGNC:21143	biolink:NamedThing	ZBTB24			mondo.json		http://identifiers.org/hgnc/21143		
GO:0016769	biolink:NamedThing	transferase activity, transferring nitrogenous groups	Catalysis of the transfer of a nitrogenous group from one compound (donor) to another (acceptor).		mondo.json	transferase activity, transferring other nitrogenous groups	http://purl.obolibrary.org/obo/GO_0016769		
MONDO:0034150	biolink:Disease	idiopathic gastroparesis		Orphanet:558411	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034150	Orphanet:558411	ordo_disease
GO:0016765	biolink:NamedThing	transferase activity, transferring alkyl or aryl (other than methyl) groups	Catalysis of the transfer of an alkyl or aryl (but not methyl) group from one compound (donor) to another (acceptor).		mondo.json	transferase activity, transferring alkyl or aryl groups, other than methyl groups	http://purl.obolibrary.org/obo/GO_0016765		
CHEBI:51086	biolink:ChemicalSubstance	chemical role	A role played by the molecular entity or part thereof within a chemical context.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_51086		
HGNC:21158	biolink:NamedThing	RNF135			mondo.json		http://identifiers.org/hgnc/21158		
HGNC:21157	biolink:NamedThing	GTF2H5			mondo.json		http://identifiers.org/hgnc/21157		
HGNC:21150	biolink:NamedThing	RNF125			mondo.json		http://identifiers.org/hgnc/21150		
CHEBI:63048	biolink:ChemicalSubstance	1,3-thiazolium cation	An organic cation resulting from protonation or quaternisation at the 3-position of any 1,3-thiazole.		mondo.json	1,3-thiazolium cations	http://purl.obolibrary.org/obo/CHEBI_63048		
MONDO:0022196	biolink:Disease	chronic erosive gastritis		GARD:0006099|ICD9:535.40|UMLS:C0267145|SCTID:63137003	mondo.json	varioliform gastritis|idiopathic chronic, erosive gastritis|chronic erosive gastritis|diffuse varioliform gastritis|ceg - chronic erosive gastritis	http://purl.obolibrary.org/obo/MONDO_0022196	http://identifiers.org/snomedct/63137003|UMLS:C0267145	gard_rare
GO:0016778	biolink:NamedThing	diphosphotransferase activity	Catalysis of the transfer of a diphosphate group from one compound (donor) to a another (acceptor).		mondo.json		http://purl.obolibrary.org/obo/GO_0016778		
GO:0016774	biolink:NamedThing	phosphotransferase activity, carboxyl group as acceptor	Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to a carboxyl group (acceptor).		mondo.json		http://purl.obolibrary.org/obo/GO_0016774		
GO:0016772	biolink:NamedThing	transferase activity, transferring phosphorus-containing groups	Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to another (acceptor).		mondo.json		http://purl.obolibrary.org/obo/GO_0016772		
GO:0016773	biolink:NamedThing	phosphotransferase activity, alcohol group as acceptor	Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to an alcohol group (acceptor).		mondo.json		http://purl.obolibrary.org/obo/GO_0016773		
HGNC:21244	biolink:NamedThing	LEMD2			mondo.json		http://identifiers.org/hgnc/21244		
MONDO:0000674	biolink:Disease	mirror agnosia	An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field.	DOID:0060144	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000674	DOID:0060144	
UBERON:5003625	biolink:AnatomicalEntity	manual digit 5 plus metapodial segment			mondo.json		http://purl.obolibrary.org/obo/UBERON_5003625		
MONDO:0000673	biolink:Disease	integrative agnosia	Agnosia characterized by the inability to integrate perceptual wholes within knowledge.	DOID:0060143	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000673	DOID:0060143	
MONDO:0000672	biolink:Disease	form agnosia	An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.	DOID:0060142	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000672	DOID:0060142	
MONDO:0024643	biolink:Disease	myocardial disorder	A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy.	NCIT:C35544|SCTID:57809008	mondo.json	myocardial disorder|myocardium disease or disorder|disorder of myocardium|disease or disorder of myocardium|disorder of heart muscle|myocardial disease|disease of myocardium|myocardium disease	http://purl.obolibrary.org/obo/MONDO_0024643	http://identifiers.org/snomedct/57809008|NCIT:C35544	
HGNC:21246	biolink:NamedThing	PNPLA1			mondo.json		http://identifiers.org/hgnc/21246		
MONDO:0024642	biolink:Disease	gastric neuroendocrine tumor G2	A well differentiated, intermediate grade tumor with neuroendocrine differentiation that arises from the stomach. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent.	UMLS:C3272407|NCIT:C95880	mondo.json	gastric NET G2|gastric neuroendocrine tumor G2	http://purl.obolibrary.org/obo/MONDO_0024642	NCIT:C95880|UMLS:C3272407	
NCBITaxon:41831	biolink:OrganismalEntity	Psychodoidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_41831		
MONDO:0000671	biolink:Disease	finger agnosia	An agnosia characterized by an inabilty to distinguish, name, or recognize the fingers	HP:0010525|DOID:0060141	mondo.json	finger agnosia|finger agnosia (disease)|manual digit agnosia	http://purl.obolibrary.org/obo/MONDO_0000671	DOID:0060141	
MONDO:0000678	biolink:Disease	simultanagnosia	An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time.	GARD:0011943|DOID:0060148	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000678	DOID:0060148	gard_rare
MONDO:0024645	biolink:Disease	retroperitoneal neoplasm	A benign or malignant neoplasm that affects the retroperitoneum.	NCIT:C3357	mondo.json	tumor of retroperitoneal space|retroperitoneal neoplasm|neoplasm of retroperitoneal space|retroperitoneal space tumor|retroperitoneal space neoplasm	http://purl.obolibrary.org/obo/MONDO_0024645	NCIT:C3357	
MONDO:0024644	biolink:Disease	myocardial ischemia	A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction).	SCTID:414545008|ICD10CM:I20-I25|NCIT:C50625|MESH:D017202|EFO:1001375|UMLS:C0151744	mondo.json	ischemic heart diseases|ischemic disease of myocardium|IHD|ischemias, myocardial|ischemic heart disease|heart disease, ischemic|disease, ischemic heart|myocardium ischemic disease|heart diseases, ischemic|myocardial Ischemias|ischemia, myocardial|diseases, ischemic heart	http://purl.obolibrary.org/obo/MONDO_0024644	UMLS:C0151744|http://identifiers.org/snomedct/414545008|NCIT:C50625|http://purl.bioontology.org/ontology/ICD10CM/I20-I25|http://identifiers.org/mesh/D017202	
MONDO:0000677	biolink:Disease	semantic agnosia	An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object.	DOID:0060147	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000677	DOID:0060147	
MONDO:0024647	biolink:Disease	urolithiasis	Stone(s) within the urinary tract.	NCIT:C114688|UMLS:C0451641|DOID:0080653|SCTID:95566004|ICD10CM:N21|ICD10CM:N20-N23|MESH:D052878	mondo.json	calculus|kidney stone|urolithiasis|urinary stones	http://purl.obolibrary.org/obo/MONDO_0024647	http://purl.bioontology.org/ontology/ICD10CM/N20-N23|http://identifiers.org/snomedct/95566004|UMLS:C0451641|DOID:0080653|NCIT:C114688|http://purl.bioontology.org/ontology/ICD10CM/N21|http://identifiers.org/mesh/D052878	
MONDO:0000676	biolink:Disease	phonagnosia	An agnosia that is a loss of the ability to recognize familiar voices.	DOID:0060146	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000676	DOID:0060146	
MONDO:0024646	biolink:Disease	obsolete refractory		NCIT:C39752	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024646	NCIT:C39752	
MONDO:0000675	biolink:Disease	pain agnosia	Loss of the ability to perceive and process pain.	NCIT:C125664|EFO:1001484|DOID:0060145	mondo.json	analgesia	http://purl.obolibrary.org/obo/MONDO_0000675	DOID:0060145|NCIT:C125664	
MONDO:0009009	biolink:Disease	hypoplasminogenemia	Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing.	OMIM:217090|UMLS:C1274789|Orphanet:97231|MESH:C580017|Orphanet:722|UMLS:C0398621|UMLS:C1968804|SCTID:95840007|GARD:0004380	mondo.json	plasminogen deficiency, type I|ligneous conjunctivitis|type 1 plasminogen deficiency|Dysplasminogenemia|plasminogen deficiency, type 2|plasminogen deficiency, type 1|plasminogen deficiency type 1|hypoplasminogenemia	http://purl.obolibrary.org/obo/MONDO_0009009	UMLS:C0398621|Orphanet:722|http://identifiers.org/mesh/C580017|http://identifiers.org/snomedct/95840007|https://omim.org/entry/217090|UMLS:C1968804	ordo_disease
MONDO:0009008	biolink:Disease	heart defect - tongue hamartoma - polysyndactyly syndrome		GARD:0002612|OMIM:217085|GARD:0004166|Orphanet:1338|MESH:C535849|UMLS:C2931046|DOID:0111591	mondo.json	congenital heart defects, hamartomas of tongue, and polysyndactyly|Ostravik-Lindemann-Solberg syndrome|CHDTHP|Orstavik Lindemann Solberg syndrome|heart defect, tongue hamartoma and polysyndactyly|heart defect - tongue hamartoma - polysyndactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0009008	Orphanet:1338|DOID:0111591|https://omim.org/entry/217085|http://identifiers.org/mesh/C535849|UMLS:C2931046	ordo_malformation_syndrome|gard_rare
MONDO:0009007	biolink:Disease	Jalili syndrome	Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD).	OMIM:217080|ICD9:362.75|DOID:0111404|Orphanet:1873|GARD:0001463|ICD10CM:H35.5|UMLS:CN200616|ICD9:520.5|UMLS:C3495589|MESH:C000596385|SCTID:707608003	mondo.json	cone rod dystrophy-amelogenesis imperfecta syndrome|Jalili syndrome|cone-rod dystrophy and amelogenesis imperfecta|cone-rod dystrophy amelogenesis imperfecta|cone-rod dystrophy with amelogenesis imperfecta	http://purl.obolibrary.org/obo/MONDO_0009007	UMLS:C3495589|UMLS:CN200616|DOID:0111404|Orphanet:1873|https://omim.org/entry/217080|http://identifiers.org/snomedct/707608003|http://identifiers.org/mesh/C000596385	ordo_malformation_syndrome|gard_rare
MONDO:0009006	biolink:Disease	complement component 2 deficiency	Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion.	GARD:0001452|NCIT:C119992|DOID:0060295|OMIM:217000|UMLS:C3150275	mondo.json	complement component 2 deficiency|C2 complement deficiency|C2 deficiency|C2D|complement deficiency caused by mutation in C2	http://purl.obolibrary.org/obo/MONDO_0009006	UMLS:C3150275|https://omim.org/entry/217000|DOID:0060295|NCIT:C119992	gard_rare
MONDO:0012658	biolink:Disease	brachydactyly type B2	Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.	SCTID:770406002|UMLS:C1969652|Orphanet:140908|OMIM:611377|DOID:0110975	mondo.json	BDB2|brachydactyly, type B2	http://purl.obolibrary.org/obo/MONDO_0012658	UMLS:C1969652|DOID:0110975|http://identifiers.org/snomedct/770406002|https://omim.org/entry/611377|Orphanet:140908	ordo_malformation_syndrome
MONDO:0012659	biolink:Disease	age related macular degeneration 9	Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene.	OMIM:611378|MESH:C566958|DOID:0110021|UMLS:C1969651	mondo.json	age related macular degeneration type 9|age-related macular degeneration caused by mutation in C3|C3 age-related macular degeneration|macular degeneration, age-related, 9|ARMD9|macular Degeneration, age-related, type 9	http://purl.obolibrary.org/obo/MONDO_0012659	UMLS:C1969651|https://omim.org/entry/611378|DOID:0110021|http://identifiers.org/mesh/C566958	
MONDO:0009005	biolink:Disease	complement component C1r/C1s deficiency	Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.	UMLS:C3150274|OMIM:216950|NCIT:C119991	mondo.json	complement component C1r/C1s deficiency|C1r/C1s deficiency	http://purl.obolibrary.org/obo/MONDO_0009005	UMLS:C3150274|https://omim.org/entry/216950|NCIT:C119991	
MONDO:0000670	biolink:Disease	cortical deafness	An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.	UMLS:C0392704|DOID:0060140	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000670	UMLS:C0392704|DOID:0060140	
MONDO:0009004	biolink:Disease	obsolete combined inflammatory and immunologic defect			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009004		
MONDO:0009003	biolink:Disease	achromatopsia 2	Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms.	MESH:C536128|GARD:0009649|DOID:0110007|UMLS:C1857618|OMIM:216900	mondo.json	RMCH2|Rod monochromacy 2|colorblindness, total|rod monochromacy 2|CNGA3 achromatopsia|Rod monochromatism 2|achromatopsia type 2|ACHM2|achromatopsia caused by mutation in CNGA3|rod monochromatism 2|achromatopsia 2	http://purl.obolibrary.org/obo/MONDO_0009003	DOID:0110007|https://omim.org/entry/216900|UMLS:C1857618|http://identifiers.org/mesh/C536128	gard_rare
MONDO:0009002	biolink:Disease	coloboma, ocular, autosomal recessive		UMLS:C4011974|OMIM:216820	mondo.json	coloboma, ocular, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009002	UMLS:C4011974|https://omim.org/entry/216820	
MONDO:0009001	biolink:Disease	macular coloboma-cleft palate-hallux valgus syndrome	Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.	UMLS:C1857619|SCTID:722463001|Orphanet:91494|OMIM:216800|MESH:C565686	mondo.json	coloboma of macula and skeletal anomalies	http://purl.obolibrary.org/obo/MONDO_0009001	http://identifiers.org/mesh/C565686|http://identifiers.org/snomedct/722463001|https://omim.org/entry/216800|Orphanet:91494|UMLS:C1857619	ordo_malformation_syndrome
MONDO:0009000	biolink:Disease	familial reactive perforating collagenosis	Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.	GARD:0013331|UMLS:C1857624|OMIM:216700|MESH:C565687|Orphanet:79147	mondo.json	inherited reactive perforating collagenosis|collagenosis, familial reactive perforating|RPC	http://purl.obolibrary.org/obo/MONDO_0009000	http://identifiers.org/mesh/C565687|Orphanet:79147|https://omim.org/entry/216700|UMLS:C1857624	ordo_disease|gard_rare
MONDO:0010000	biolink:Disease	rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction		OMIM:268315|MESH:C564829|UMLS:C1849333	mondo.json	rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction	http://purl.obolibrary.org/obo/MONDO_0010000	https://omim.org/entry/268315|UMLS:C1849333|http://identifiers.org/mesh/C564829	
MONDO:0012663	biolink:Disease	Plasmodium falciparum fever episodes quantitative trait locus 1		OMIM:611384	mondo.json	Plasmodium falciparum fever episodes quantitative trait locus 1|plasmodium falciparum fever episodes QTL1|malaria fever episodes quantitative trait locus 1|Plasmodium falciparum fever episodes quantitative trait locus type 1|Pffe1	http://purl.obolibrary.org/obo/MONDO_0012663	https://omim.org/entry/611384	obsoletion_candidate
HGNC:4177	biolink:NamedThing	GBA			mondo.json		http://identifiers.org/hgnc/4177		
OBI:0000417	biolink:NamedThing	achieves_planned_objective	This relation obtains between a planned process and a objective specification when the criteria specified in the objective specification are met at the end of the planned process.		mondo.json		http://purl.obolibrary.org/obo/OBI_0000417		
MONDO:0012664	biolink:Disease	spastic ataxia 3	Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene.	MESH:C566956|Orphanet:314603|UMLS:CN230089|DOID:0050942|UMLS:C1969645|OMIM:611390|ICD10CM:G11.4	mondo.json	autosomal recessive spastic ataxia with leukoencephalopathy|autosomal recessive spastic ataxia type 3|spastic ataxia type 3|MARS2 autosomal recessive spastic ataxia|spastic ataxia 3, autosomal recessive|ARSAL|SPAX3|autosomal recessive spastic ataxia caused by mutation in MARS2	http://purl.obolibrary.org/obo/MONDO_0012664	https://omim.org/entry/611390|UMLS:CN230089|http://identifiers.org/mesh/C566956|DOID:0050942|Orphanet:314603|UMLS:C1969645	ordo_disease
MONDO:0012661	biolink:Disease	susceptibility to visceral leishmaniasis, 3		OMIM:611382	mondo.json	leishmaniasis, visceral, susceptibility to, 3|kala-AZAR, susceptibility to, 3|KAZA3	http://purl.obolibrary.org/obo/MONDO_0012661	https://omim.org/entry/611382	predisposition
NCIT:C36292	biolink:NamedThing	Laboratory Test Result			mondo.json		http://purl.obolibrary.org/obo/NCIT_C36292		http://purl.obolibrary.org/obo/NCIT_C118169|http://purl.obolibrary.org/obo/NCIT_C89506|http://purl.obolibrary.org/obo/NCIT_C116977|http://purl.obolibrary.org/obo/NCIT_C90259|http://purl.obolibrary.org/obo/NCIT_C54447
MONDO:0010002	biolink:Disease	Rothmund-Thomson syndrome	Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.	ICD9:759.89|Orphanet:2909|GARD:0004392|DOID:2732|OMIMPS:268400|UMLS:C0032339|NCIT:C3335|SCTID:69093006|MESH:D011038	mondo.json	poikiloderma of Rothmund-Thomson|Rothmund-Thomson syndrome|congenital poikiloderma|poikiloderma congenitale|poikiloderma atrophicans and cataract|RTS	http://purl.obolibrary.org/obo/MONDO_0010002	http://identifiers.org/snomedct/69093006|UMLS:C0032339|NCIT:C3335|https://omim.org/phenotypicSeries/PS268400|Orphanet:2909|http://identifiers.org/mesh/D011038|DOID:2732	ordo_disease
HGNC:4175	biolink:NamedThing	GATM			mondo.json		http://identifiers.org/hgnc/4175		
HGNC:33235	biolink:NamedThing	PWRN1			mondo.json		http://identifiers.org/hgnc/33235		
MONDO:0012662	biolink:Disease	Usher syndrome type 2D	Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene.	DOID:0110840|OMIM:611383|ICD10CM:H35.5	mondo.json	Usher syndrome type IID|USHER syndrome, type IID|Usher syndrome type 2D|Usher syndrome caused by mutation in WHRN|USH2D|WHRN Usher syndrome|Usher syndrome, type 2D	http://purl.obolibrary.org/obo/MONDO_0012662	https://omim.org/entry/611383|DOID:0110840	
MONDO:0010001	biolink:Disease	ectodermal dysplasia-blindness syndrome	Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait.	Orphanet:1806|MESH:C535865|OMIM:268320|UMLS:C1849332|GARD:0000293	mondo.json	microphthalmos, microcornea, and sclerocornea with short stature and hair and dental abnormalities|microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities|RODRIGUES blindness	http://purl.obolibrary.org/obo/MONDO_0010001	https://omim.org/entry/268320|Orphanet:1806|UMLS:C1849332|http://identifiers.org/mesh/C535865	ordo_malformation_syndrome
HGNC:4174	biolink:NamedThing	GATA6			mondo.json		http://identifiers.org/hgnc/4174		
MONDO:0010004	biolink:Disease	EEC syndrome	EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).	GARD:0002076|Orphanet:1896|OMIM:268650|UMLS:C0406704|DOID:0060782|MESH:C536189|NCIT:C148261|SCTID:39788007|UMLS:CN776907	mondo.json	ectrodactyly-ectodermal dysplasia-cleft syndrome|ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome|ectrodactyly-ectodermal dysplasia-clefting syndrome|Rudiger syndrome 1|ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome|ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome|ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate|Walker-Clodius syndrome|ectrodactyly-cleft lip/palate syndrome|RUDIGER syndrome	http://purl.obolibrary.org/obo/MONDO_0010004	UMLS:CN776907|NCIT:C148261|http://identifiers.org/snomedct/39788007|UMLS:C0406704|https://omim.org/entry/268650|http://identifiers.org/mesh/C536189|Orphanet:1896|DOID:0060782	ordo_malformation_syndrome|gard_rare
MONDO:0012667	biolink:Disease	dilated cardiomyopathy 1W	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.	UMLS:C1969639|MESH:C566954|DOID:0110446|OMIM:611407	mondo.json	cardiomyopathy, dilated, type 1W|cardiomyopathy, dilated, 1W|VCL familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in VCL|CMD1W|dilated cardiomyopathy type 1W	http://purl.obolibrary.org/obo/MONDO_0012667	https://omim.org/entry/611407|http://identifiers.org/mesh/C566954|DOID:0110446|UMLS:C1969639	
HGNC:4173	biolink:NamedThing	GATA4			mondo.json		http://identifiers.org/hgnc/4173		
MONDO:0010003	biolink:Disease	Rowley-Rosenberg syndrome		SCTID:53783003|OMIM:268500|MESH:C535874|UMLS:C0268426|GARD:0008556	mondo.json	Growth retardation, pulmonary hypertension, and amino aciduria|Growth retardation, pulmonary hypertension, and aminoaciduria|Rowley-Rosenberg syndrome	http://purl.obolibrary.org/obo/MONDO_0010003	UMLS:C0268426|https://omim.org/entry/268500|http://identifiers.org/mesh/C535874|http://identifiers.org/snomedct/53783003	gard_rare
MONDO:0012668	biolink:Disease	Tented eyebrows		OMIM:611426	mondo.json	Tented eyebrows	http://purl.obolibrary.org/obo/MONDO_0012668	https://omim.org/entry/611426	
HGNC:4172	biolink:NamedThing	GATA3			mondo.json		http://identifiers.org/hgnc/4172		
MONDO:0012665	biolink:Disease	cataract 33	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene.	Orphanet:217046|DOID:0110264|MESH:C566955|Orphanet:217052|OMIM:611391|UMLS:C3808107	mondo.json	CTRCT33|cataract 33|cortical cataract 33|cataract 33, multiple types|BFSP1 early-onset non-syndromic cataract|early-onset non-syndromic cataract caused by mutation in BFSP1|cataract 33, cortical|cataract type 33	http://purl.obolibrary.org/obo/MONDO_0012665	https://omim.org/entry/611391|DOID:0110264|http://identifiers.org/mesh/C566955|UMLS:C3808107	
MONDO:0010006	biolink:Disease	Sandhoff disease	Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration.	OMIM:268800|UMLS:C0036161|NCIT:C85052|MESH:D012497|ICD10CM:E75.01|SCTID:23849003|DOID:3323|GARD:0007604|Orphanet:796|GARD:0002521	mondo.json	Sandhoff disease, infantile type|GM2 gangliosidosis, 0 variant|GM2 gangliosidosis, type 2|GM2 gangliosidosis 0 variant|Sandhoff-Jatzkewitz-Pilz disease|Hexosaminidases a and B deficiency|Hexosaminidases A and B deficiency|Beta-hexosaminidase-beta-subunit deficiency|Sandhoff disease, juvenile type|GM2-gangliosidosis, type 2|Sandhoff disease, infantile, juvenile, and adult forms|Sandhoff Jatzkewitz disease|Sandhoff disease|total hexosaminidase deficiency|Sandhoff disease, adult type|hexosaminidase A and B deficiency disease	http://purl.obolibrary.org/obo/MONDO_0010006	http://purl.bioontology.org/ontology/ICD10CM/E75.01|https://omim.org/entry/268800|http://identifiers.org/snomedct/23849003|http://identifiers.org/mesh/D012497|UMLS:C0036161|Orphanet:796|DOID:3323|NCIT:C85052	ordo_disease|gard_rare
HGNC:4171	biolink:NamedThing	GATA2			mondo.json		http://identifiers.org/hgnc/4171		
MONDO:0010005	biolink:Disease	saccharopinuria	Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.	OMIM:268700|SCTID:111397004|Orphanet:3124|UMLS:C0268556|GARD:0000314|MESH:C537218|ICD9:270.7	mondo.json	saccharopine dehydrogenase deficiency|hyperlysinemia type II|hyperlysinemia, type 2|Alpha-aminoadipic semialdehyde synthase deficiency|saccharopinuria	http://purl.obolibrary.org/obo/MONDO_0010005	http://identifiers.org/snomedct/111397004|Orphanet:3124|UMLS:C0268556|http://identifiers.org/mesh/C537218|https://omim.org/entry/268700	ordo_disease
MONDO:0012666	biolink:Disease	asthma-related traits, susceptibility to, 6		OMIM:611403	mondo.json	ASRT6|asthma-related traits, susceptibility to, type 6|asthma-related traits, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0012666	https://omim.org/entry/611403	predisposition
HGNC:4170	biolink:NamedThing	GATA1			mondo.json		http://identifiers.org/hgnc/4170		
MONDO:0024638	biolink:Disease	pancreatic gastrinoma	A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption.	NCIT:C95596	mondo.json	pancreatic gastrinoma	http://purl.obolibrary.org/obo/MONDO_0024638	NCIT:C95596	
MONDO:0024637	biolink:Disease	malignant soft tissue neoplasm	A malignant neoplasm arising exclusively from the soft tissues.	NCIT:C4867|SCTID:269469005	mondo.json	malignant tumor of the soft tissue|malignant tumor of soft tissue|malignant soft tissue neoplasm|malignant neoplasm of the soft tissue|malignant neoplasm of soft tissue|malignant soft tissue tumor	http://purl.obolibrary.org/obo/MONDO_0024637	http://identifiers.org/snomedct/269469005|NCIT:C4867	
MONDO:0000669	biolink:Disease	color agnosia	An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it.	DOID:0060139	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000669	DOID:0060139	
NCBITaxon:41828	biolink:OrganismalEntity	Chironomoidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_41828		
MONDO:0024639	biolink:Disease	gastric enterochromaffin cell serotonin-producing neuroendocrine tumor	A well differentiated neuroendocrine tumor that arises from the stomach. It produces serotonin and it may occasionally be found in association with a carcinoid syndrome.	UMLS:C3274137|NCIT:C27443	mondo.json	gastric EC cell serotonin-producing NET|gastric enterochromaffin cell serotonin-producing neuroendocrine tumor|gastric EC-cell serotonin-producing neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0024639	NCIT:C27443|UMLS:C3274137	
MONDO:0000668	biolink:Disease	autotopagnosia	An agnosia that is a loss of the ability to orient parts of the body.	DOID:0060138	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000668	DOID:0060138	
MONDO:0012660	biolink:Disease	susceptibility to visceral leishmaniasis, 2		OMIM:611381	mondo.json	KAZA2|leishmaniasis, visceral, susceptibility to, 2|kala-AZAR, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0012660	https://omim.org/entry/611381	predisposition
MONDO:0024630	biolink:Disease	defective phagocytic cell chemotaxis		ICD9:279.8|SCTID:234580003|UMLS:C0398735	mondo.json	defective phagocytic cell chemotaxis	http://purl.obolibrary.org/obo/MONDO_0024630	UMLS:C0398735|http://identifiers.org/snomedct/234580003	
MONDO:0000685	biolink:Disease	visual agnosia	An inability to recognize or interpret objects by sight.	NCIT:C35276|SCTID:25762009|DOID:0060155|HP:0030222	mondo.json	visual agnosia|visual agnosia (disease)|visuoperceptual agnosia	http://purl.obolibrary.org/obo/MONDO_0000685	NCIT:C35276|http://identifiers.org/snomedct/25762009|DOID:0060155	
CHEBI:28616	biolink:ChemicalSubstance	carbamic acid	A one-carbon compound that is ammonia in which one of the hydrogens is replaced by a carboxy group. Although carbamic acid derivatives are common, carbamic acid itself has never been synthesised.		mondo.json	Aminoameisensaeure|Carbamic acid|CARBAMIC ACID|carbamic acid|Carbamate|Carbamidsaeure|Aminoformic acid	http://purl.obolibrary.org/obo/CHEBI_28616		
MONDO:0000684	biolink:Disease	verbal auditory agnosia	An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful.	DOID:0060154	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000684	DOID:0060154	
MONDO:0024632	biolink:Disease	defective phagocytic cell opsonization		UMLS:C0398733|SCTID:234578009	mondo.json	defective phagocytic cell opsonization	http://purl.obolibrary.org/obo/MONDO_0024632	http://identifiers.org/snomedct/234578009|UMLS:C0398733	
MONDO:0000683	biolink:Disease	topographical agnosia	An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects.	SCTID:83824009|DOID:0060153	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000683	DOID:0060153|http://identifiers.org/snomedct/83824009	
NCBITaxon:41820	biolink:OrganismalEntity	Culicoides <genus>		GC_ID:1	mondo.json	punkies|Culicoides	http://purl.obolibrary.org/obo/NCBITaxon_41820		
MONDO:0000682	biolink:Disease	time agnosia	An agnosia that is a loss of the ability to comprehend the succession and duration of events.	DOID:0060152	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000682	DOID:0060152	
MONDO:0024634	biolink:Disease	large intestine disorder	A disease that involves the large intestine.	SCTID:119523007|UMLS:C0341321	mondo.json	disorder of large intestine|disease of large intestine|disease or disorder of large intestine|large intestine disease or disorder	http://purl.obolibrary.org/obo/MONDO_0024634	http://identifiers.org/snomedct/119523007|UMLS:C0341321	
NCBITaxon:41827	biolink:OrganismalEntity	Culicoidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_41827		
MONDO:0000689	biolink:Disease	obsolete survival motor neuron spinal muscular atrophy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000689		
MONDO:0000688	biolink:Disease	inborn organic aciduria	An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage.	GARD:0009433|UMLS:C1263739|NCIT:C101334|Orphanet:289899|DOID:0060159|ICD9:277.89	mondo.json	organic acidemia|inborn organic acid metabolic process disorder|organic aciduria|inborn error of organic acid metabolic process|disorder of organic acid metabolism|organic acid metabolism disorder|inherited organic acidemia|rare inborn error of organic acid metabolic process	http://purl.obolibrary.org/obo/MONDO_0000688	NCIT:C101334|DOID:0060159|UMLS:C1263739|Orphanet:289899	disease_grouping|ordo_group_of_disorders|gard_rare
HP:0011400	biolink:PhenotypicFeature	Abnormal CNS myelination	An abnormality of myelination of nerves in the central nervous system.	UMLS:C4021152	mondo.json	Abnormal formation of myelin sheaths	http://purl.obolibrary.org/obo/HP_0011400		
MONDO:0024633	biolink:Disease	hypertensive nephropathy	Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria.	MESH:C563161|NCIT:C4757|OMIM:608026|SCTID:38481006|UMLS:C0848548|ICD9:403.90	mondo.json	hypertensive renal disease|hypertensive nephropathy|HNP1	http://purl.obolibrary.org/obo/MONDO_0024633	UMLS:C0848548|https://omim.org/entry/608026|NCIT:C4757|http://identifiers.org/mesh/C563161|http://identifiers.org/snomedct/38481006	
MONDO:0000687	biolink:Disease	diffuse alopecia areata	An alopecia areata that involves diffuse loss of hair over the whole scalp.	MESH:C531609|DOID:0060157|SCTID:46586006	mondo.json	marginal alopecia|Cazenave's vitiligo|alopecia celsi|patchy alopecia|Jonston's alopecia|Celsus' vitiligo	http://purl.obolibrary.org/obo/MONDO_0000687	http://identifiers.org/mesh/C531609|http://identifiers.org/snomedct/46586006|DOID:0060157	
MONDO:0024636	biolink:Disease	inflammation of heart layer	An inflammatory disease involving a pathogenic inflammatory response in the heart layer.	SCTID:399617002|ICD9:429.89	mondo.json	heart layer inflammation|carditis	http://purl.obolibrary.org/obo/MONDO_0024636	http://identifiers.org/snomedct/399617002	
MONDO:0000686	biolink:Disease	alexia without agraphia	Loss of the power to comprehend written materials despite preservation of the ability to write (i.e., alexia without agraphia). This condition is generally attributed to lesions that 'disconnect' the visual cortex of the non-dominant hemisphere from language centers in the dominant hemisphere. This may occur when a dominant visual cortex injury is combined with underlying white matter lesions that involve crossing fibers from the occipital lobe of the opposite hemisphere. (From Adams et al., Principles of Neurology, 6th ed, p483)	DOID:0060156|MESH:D020237	mondo.json	without agraphia, alexia|agraphia, alexia without|agnosia, visual verbal|visual verbal Agnosias|Pure alexias|Blindnesses, Pure Word|blindness, Pure Word|verbal agnosia, visual|Word blindness, Pure|alexia syndrome without agraphia|without Agraphias, alexia|Agraphias, alexia without|Word Blindnesses, Pure|Pure alexia without agraphia|Pure Word blindness|visual verbal agnosia|Pure alexia|alexia without agraphia|Pure Word Blindnesses|alexia without Agraphias|Agnosias, visual verbal|alexias, Pure|verbal Agnosias, visual	http://purl.obolibrary.org/obo/MONDO_0000686	DOID:0060156|http://identifiers.org/mesh/D020237	
MONDO:0024635	biolink:Disease	small intestine disorder	A disease that involves the small intestine.	UMLS:C0341268|SCTID:119522002	mondo.json	small intestine disease or disorder|disorder of small intestine|disease of small intestine|disease or disorder of small intestine	http://purl.obolibrary.org/obo/MONDO_0024635	http://identifiers.org/snomedct/119522002|UMLS:C0341268	
MONDO:0009019	biolink:Disease	congenital hereditary endothelial dystrophy of cornea	A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.	OMIM:217700|Orphanet:293603|DOID:0060649|GARD:0006196|MESH:C536439	mondo.json	corneal endothelial dystrophy, autosomal recessive|corneal endothelial dystrophy 2, autosomal recessive|CHEDII|congenital hereditary endothelial dystrophy of the cornea|corneal dystrophy, congenital hereditary endothelial|CHED2|congenital hereditary endothelial dystrophy type II|autosomal recessive congenital hereditary endothelial dystrophy|corneal endothelial dystrophy 2, autosomal recessive, formerly|autosomal recessive CHED|congenital hereditary endothelial dystrophy type 2|CHED|CHED2, formerly|corneal endothelial dystrophy type 2|corneal endothelial dystrophy|corneal endothelial dystrophy 2|infantile hereditary endothelial dystrophy|congenital hereditary endothelial dystrophy of cornea	http://purl.obolibrary.org/obo/MONDO_0009019	http://identifiers.org/mesh/C536439|DOID:0060649|Orphanet:293603|https://omim.org/entry/217700	ordo_disease|gard_rare
MONDO:0012649	biolink:Disease	obsolete FTSD			mondo.json		http://purl.obolibrary.org/obo/MONDO_0012649		
HGNC:4180	biolink:NamedThing	GBE1			mondo.json		http://identifiers.org/hgnc/4180		
MONDO:0009018	biolink:Disease	central cloudy dystrophy of François	Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.	MESH:C563262|UMLS:C1622427|SCTID:419074008|Orphanet:98972|OMIM:217600	mondo.json	CCDF|central cloudy dystrophy of Francois|central cloudy corneal dystrophy of François|corneal dystrophy, central type|central cloudy dystrophy of François	http://purl.obolibrary.org/obo/MONDO_0009018	Orphanet:98972|http://identifiers.org/mesh/C563262|http://identifiers.org/snomedct/419074008|https://omim.org/entry/217600|UMLS:C1622427	ordo_disease
MONDO:0009017	biolink:Disease	corneal degeneration, band-shaped spheroid		OMIM:217520	mondo.json	corneal degeneration, band-shaped spheroid	http://purl.obolibrary.org/obo/MONDO_0009017	https://omim.org/entry/217520	
MONDO:0012647	biolink:Disease	obsolete generalized epilepsy with febrile seizures plus, type 3			mondo.json		http://purl.obolibrary.org/obo/MONDO_0012647		
MONDO:0012648	biolink:Disease	isobutyryl-CoA dehydrogenase deficiency	An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).	MESH:C535541|Orphanet:79159|OMIM:611283|NCIT:C129975|GARD:0010223|UMLS:C1969809	mondo.json	IBD deficiency|isobutyryl-CoA dehydrogenase deficiency|isobutyric aciduria|Acad8 deficiency|acyl-CoaA dehydrogenase family, member 8, deficiency of|acyl-Coa dehydrogenase family, member 8, deficiency of	http://purl.obolibrary.org/obo/MONDO_0012648	UMLS:C1969809|https://omim.org/entry/611283|NCIT:C129975|http://identifiers.org/mesh/C535541|Orphanet:79159	ordo_disease|gard_rare
MONDO:0009016	biolink:Disease	band keratopathy	The deposition of calcium on the cornea, resulting in pain and decreased visual acuity.	MESH:C562399|NCIT:C118765|OMIM:217500|ICD9:371.43|UMLS:C0155120|DOID:11164|SCTID:35055000	mondo.json	corneal dystrophy, band-SHAPED|band keratopathy|band-shaped keratopathy	http://purl.obolibrary.org/obo/MONDO_0009016	http://identifiers.org/snomedct/35055000|UMLS:C0155120|DOID:11164|http://identifiers.org/mesh/C562399|https://omim.org/entry/217500|NCIT:C118765	
MONDO:0009015	biolink:Disease	corneal dystrophy-perceptive deafness syndrome	Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss.	UMLS:C1857572|OMIM:217400|SCTID:720749004|DOID:0111620|MESH:C535473|GARD:0001529|Orphanet:1490	mondo.json	CDPD|corneal dystrophy and sensorineural deafness|corneal dystrophy and perceptive deafness|corneal dystrophy with progressive deafness|corneal endothelial dystrophy and perceptive deafness|Cdpd1|Harboyan syndrome|congenital corneal dystrophy, progressive sensorineural deafness	http://purl.obolibrary.org/obo/MONDO_0009015	DOID:0111620|http://identifiers.org/snomedct/720749004|http://identifiers.org/mesh/C535473|https://omim.org/entry/217400|UMLS:C1857572|Orphanet:1490	ordo_malformation_syndrome
MONDO:0000681	biolink:Disease	tactile agnosia	An agnosia that is a loss of the ability to recognize or identify objects by touch alone.	DOID:0060151	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000681	DOID:0060151	
MONDO:0000680	biolink:Disease	astereognosia	An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.	HP:0010527|DOID:0060150	mondo.json	astereognosia (disease)|somatosensory agnosia|astereognosia	http://purl.obolibrary.org/obo/MONDO_0000680	DOID:0060150	
MONDO:0009014	biolink:Disease	cornea plana 2	Any cornea plana in which the cause of the disease is a mutation in the KERA gene.	OMIM:217300|UMLS:C1857574|MESH:C565677	mondo.json	cornea plana 2, autosomal recessive|cornea plana 2|cornea plana caused by mutation in KERA|cornea plana type 2|CNA2|KERA cornea plana	http://purl.obolibrary.org/obo/MONDO_0009014	http://identifiers.org/mesh/C565677|https://omim.org/entry/217300|UMLS:C1857574	
MONDO:0009013	biolink:Disease	convulsive disorder, familial, with prenatal or early onset		OMIM:217200|UMLS:C1857575|MESH:C565678	mondo.json	convulsive disorder, familial, with prenatal or early onset	http://purl.obolibrary.org/obo/MONDO_0009013	https://omim.org/entry/217200|UMLS:C1857575|http://identifiers.org/mesh/C565678	
HGNC:21253	biolink:NamedThing	LHFPL5			mondo.json		http://identifiers.org/hgnc/21253		
MONDO:0009012	biolink:Disease	multiple pterygium-malignant hyperthermia syndrome	Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.	GARD:0003361|MESH:C565679|OMIM:217150|UMLS:C1857576|Orphanet:2215	mondo.json	malignant hyperthermia arthrogryposis torticollis|malignant hyperthermia - arthrogryposis - torticollis|froster-Iskenius-Waterson-Hall syndrome|froster-Iskenius-Waterson syndrome|malignant hyperthermia-arthrogryposis-torticollis syndrome|contractures, congenital, torticollis, and malignant hyperthermia	http://purl.obolibrary.org/obo/MONDO_0009012	https://omim.org/entry/217150|Orphanet:2215|UMLS:C1857576|http://identifiers.org/mesh/C565679	ordo_malformation_syndrome|gard_rare
MONDO:0009011	biolink:Disease	constriction rings syndrome	Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.	OMIM:217100|Orphanet:295000	mondo.json	terminal transverse defects of arm|Adam Complex|CONSTRICTING bands, congenital|constriction band syndrome|amputation, congenital|Streeter dysplasia|Streeter anomaly|congenital ring constrictions|amniotic band sequence	http://purl.obolibrary.org/obo/MONDO_0009011	https://omim.org/entry/217100|Orphanet:295000	ordo_malformation_syndrome|obsoletion_candidate
MONDO:0012652	biolink:Disease	autosomal recessive limb-girdle muscular dystrophy type 2L	A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.	MESH:C566968|DOID:0110284|GARD:0012536|Orphanet:206549|UMLS:C1969785|OMIM:611307	mondo.json	autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5|ANO5 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, autosomal recessive 12|limb-girdle muscular dystrophy type 2L|muscular dystrophy, limb-girdle, type 2L|LGMD2L	http://purl.obolibrary.org/obo/MONDO_0012652	https://omim.org/entry/611307|http://identifiers.org/mesh/C566968|DOID:0110284|Orphanet:206549|UMLS:C1969785	ordo_disease
MONDO:0012653	biolink:Disease	persistent hyperplastic primary vitreous, autosomal dominant		OMIM:611308|UMLS:C1969784	mondo.json	PHPVAD|persistent hyperplastic primary vitreous, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012653	https://omim.org/entry/611308|UMLS:C1969784	
MONDO:0009010	biolink:Disease	aortic arch interruption	Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths.	ICD9:745.11|ICD10CM:Q25.21|MedDRA:10022599|GARD:0000740|Orphanet:2299	mondo.json		http://purl.obolibrary.org/obo/MONDO_0009010	Orphanet:2299|http://purl.bioontology.org/ontology/ICD10CM/Q25.21	gard_rare|ordo_morphological_anomaly
MONDO:0012650	biolink:Disease	Cernunnos-XLF deficiency	Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.	OMIM:611291|SCTID:720853005|Orphanet:169079|UMLS:C1969799|MESH:C566970	mondo.json	combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome|severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation|SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionizing radiation|severe combined immunodeficiency with sensitivity to ionizing radiation due to Nhej1 deficiency|Nhej1 syndrome|Cernunnos deficiency|SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionizing radiation due to Nhej1 deficiency|Cernunnos-XLF deficiency|Cernunnos XLFD|NHEJ1 deficiency	http://purl.obolibrary.org/obo/MONDO_0012650	https://omim.org/entry/611291|http://identifiers.org/mesh/C566970|Orphanet:169079|UMLS:C1969799|http://identifiers.org/snomedct/720853005	ordo_disease
MONDO:0012651	biolink:Disease	spastic ataxia 2	Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.	MESH:C566969|OMIM:611302|DOID:0050941|UMLS:C1969796|Orphanet:397946	mondo.json	spastic ataxia 2, autosomal recessive|spastic ataxia 2|spastic ataxia caused by mutation in KIF1C|KIF1C spastic ataxia|SPG58|SPAX2|spastic ataxia type 2|autosomal recessive spastic paraplegia type 58|autosomal recessive spastic ataxia type 2	http://purl.obolibrary.org/obo/MONDO_0012651	https://omim.org/entry/611302|http://identifiers.org/mesh/C566969|DOID:0050941|UMLS:C1969796|Orphanet:397946	ordo_disease
MONDO:0012656	biolink:Disease	lethal congenital contracture syndrome 3	Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.	UMLS:C4275144|OMIM:611369|Orphanet:137783|UMLS:C1969655|OMIM:614915|GARD:0012644|DOID:0060653|MESH:C566961|SCTID:715420005	mondo.json	lethal congenital contracture syndrome 3|lethal congenital contractural syndrome 3|lethal congenital contracture syndrome caused by mutation in PIP5K1C|lethal congenital contracture syndrome type 3|LCCS3|Israeli Bedouin type B multiple contracture syndrome|PIP5K1C lethal congenital contracture syndrome|multiple contracture syndrome, Israeli Bedouin type B	http://purl.obolibrary.org/obo/MONDO_0012656	DOID:0060653|http://identifiers.org/snomedct/715420005|UMLS:C4275144|https://omim.org/entry/611369|Orphanet:137783|http://identifiers.org/mesh/C566961|UMLS:C1969655	ordo_malformation_syndrome|gard_rare
MONDO:0012657	biolink:Disease	Mungan syndrome		MESH:C548078|GARD:0010687|OMIM:611376	mondo.json	MGS|visceral neuromyopathy familial with pseudoobstruction megaduodenum Barrett esophagus and cardiac abnormalities|pseudoobstruction chronic idiopathic intestinal with Barrett esophagus and cardiac abnormalities|pseudoobstruction, chronic idiopathic intestinal, with Barrett esophagus and Cardiac abnormalities|visceral Neuromyopathy, familial, with pseudoobstruction, Megaduodenum, Barrett esophagus, and Cardiac abnormalities|MUNGAN syndrome	http://purl.obolibrary.org/obo/MONDO_0012657	https://omim.org/entry/611376|http://identifiers.org/mesh/C548078	
MONDO:0012654	biolink:Disease	atrial septal defect 4	Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene.	OMIM:611363|MESH:C566963|DOID:0110109|UMLS:C1969657	mondo.json	ASD4|TBX20 atrial heart septal defect|atrial septal defect type 4|atrial heart septal defect caused by mutation in TBX20|atrial septal defect 4|atrial heart septal defect type 4	http://purl.obolibrary.org/obo/MONDO_0012654	https://omim.org/entry/611363|DOID:0110109|http://identifiers.org/mesh/C566963|UMLS:C1969657	
MONDO:0012655	biolink:Disease	myoclonic epilepsy, juvenile, susceptibility to, 4		UMLS:C1969656|DOID:0111327|OMIM:611364	mondo.json	myoclonic epilepsy, juvenile, susceptibility to, 4|EJM4|myoclonic epilepsy, juvenile, 4	http://purl.obolibrary.org/obo/MONDO_0012655	https://omim.org/entry/611364|DOID:0111327|UMLS:C1969656	predisposition
MONDO:0024627	biolink:Disease	phagocytic cell dysfunction		UMLS:C0398732|SCTID:302874002	mondo.json	defective phagocytosis|phagocytic cell dysfunction	http://purl.obolibrary.org/obo/MONDO_0024627	http://identifiers.org/snomedct/302874002|UMLS:C0398732	
NCBITaxon:41819	biolink:OrganismalEntity	Ceratopogonidae		GC_ID:1	mondo.json	biting midges|no-see-ums	http://purl.obolibrary.org/obo/NCBITaxon_41819		
MONDO:0024626	biolink:Disease	defective phagocytic cell engulfment		SCTID:234585008|UMLS:C0398742	mondo.json	defective phagocytic cell killing	http://purl.obolibrary.org/obo/MONDO_0024626	http://identifiers.org/snomedct/234585008|UMLS:C0398742	
MONDO:0000679	biolink:Disease	social emotional agnosia	An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction.	DOID:0060149	mondo.json	expressive agnosia	http://purl.obolibrary.org/obo/MONDO_0000679	DOID:0060149	
NCIT:C36285	biolink:NamedThing	Endocrine System Finding			mondo.json		http://purl.obolibrary.org/obo/NCIT_C36285		http://purl.obolibrary.org/obo/NCIT_C77526|http://purl.obolibrary.org/obo/NCIT_C88026|http://purl.obolibrary.org/obo/NCIT_C90259|http://purl.obolibrary.org/obo/NCIT_C61410|http://purl.obolibrary.org/obo/NCIT_C167409
HGNC:4189	biolink:NamedThing	GCDH			mondo.json		http://identifiers.org/hgnc/4189		
MONDO:0000652	biolink:Disease	integumentary system benign neoplasm	A benign neoplasm that involves the integumental system.	DOID:0060121	mondo.json	integumental system benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000652	DOID:0060121	
MONDO:0000651	biolink:Disease	obsolete thoracic disorder	OBSOLETE. A non-neoplastic or neoplastic disorder that affects the thorax and/or the organs of the thoracic cavity. Representative examples include pleural infection, mediastinitis, thymoma, mediastinal lymphoma, and pleural mesothelioma.	UMLS:C0039978|NCIT:C35742|SCTID:118946009|DOID:0060118|MESH:D013896|SCTID:609622007|UMLS:C3661979	mondo.json	disorder of thoracic segment of trunk|thoracic disease|disorder of thorax|thoracic segment of trunk disease|thoracic disorder|disease or disorder of thoracic segment of trunk|disease of thoracic segment of trunk|thoracic segment of trunk disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000651	UMLS:C3661979|http://identifiers.org/snomedct/609622007|UMLS:C0039978|NCIT:C35742|http://identifiers.org/mesh/D013896|http://identifiers.org/snomedct/118946009|DOID:0060118	
MONDO:0000650	biolink:Disease	peritoneal benign neoplasm	A non-metastasizing neoplasm that arises from the peritoneal cavity. Representative examples include adenomatoid tumor and disseminated peritoneal leiomyomatosis.	NCIT:C8612|DOID:0060117|UMLS:C0496874	mondo.json	benign peritoneal neoplasm|peritoneum benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000650	UMLS:C0496874|NCIT:C8612|DOID:0060117	
MONDO:0024621	biolink:Disease	serous cystadenocarcinoma	A malignant serous cystic neoplasm usually involving the ovary or the pancreas. It is characterized by the presence of invasive malignant glandular epithelial cells which often form papillary structures.	NCIT:C3778|ICDO:8441/3	mondo.json	serous cystadenocarcinoma|serous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0024621	NCIT:C3778	
MONDO:0024620	biolink:Disease	meningitis caused by poliovirus		SCTID:721765009|UMLS:C4303134	mondo.json	meningitis caused by human poliovirus|polio virus meningitis	http://purl.obolibrary.org/obo/MONDO_0024620	UMLS:C4303134|http://identifiers.org/snomedct/721765009	
MONDO:0024623	biolink:Disease	otorhinolaryngologic disease	Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases.	UMLS:C0395797|MESH:D010038|ICD9:478.19|UMLS:C0029896|SCTID:232208008|NCIT:C118420	mondo.json	ENT diseases|disease, ENT|otolaryngologic disease|disease, otolaryngological|diseases, otorhinolaryngologic|disease, otorhinolaryngological|otolaryngologic diseases|ENT disease|ear/nose/throat disease|otolaryngological disease|otorhinolaryngological disease|diseases, otorhinolaryngological|diseases, otolaryngologic|ear, nose or throat disorder|otolaryngologic disorder|ear, nose and throat disorder|diseases, ENT|otorhinolaryngologic disease|disease, otorhinolaryngologic|otolaryngological diseases|diseases, otolaryngological|otorhinolaryngological diseases|disease, otolaryngologic	http://purl.obolibrary.org/obo/MONDO_0024623	UMLS:C0395797|http://identifiers.org/snomedct/232208008|UMLS:C0029896|NCIT:C118420|http://identifiers.org/mesh/D010038	
MONDO:0000656	biolink:Disease	obsolete alpha chain disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000656		
MONDO:0024622	biolink:Disease	thyroid gland adenocarcinoma	An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation).	NCIT:C27380|DOID:0080524	mondo.json	thyroid adenocarcinoma|thyroid gland adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0024622	NCIT:C27380|DOID:0080524	
MONDO:0000655	biolink:Disease	obsolete heavy chain disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000655		
MONDO:0024625	biolink:Disease	disorder of lacrimal gland	A disease that involves the lacrimal gland.	SCTID:95766002|UMLS:C0235228	mondo.json	disorder of lacrimal gland|disease or disorder of lacrimal gland|disease of lacrimal gland|lacrimal gland disease|lacrimal gland disease or disorder	http://purl.obolibrary.org/obo/MONDO_0024625	http://identifiers.org/snomedct/95766002|UMLS:C0235228	
MONDO:0000654	biolink:Disease	benign connective and soft tissue neoplasm	A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma.	SCTID:387837005|NCIT:C53684|NCIT:C3377|DOID:0060123	mondo.json	benign mesenchymal cell neoplasm|soft tissue benign neoplasm|benign tumor of the soft tissue and bone|tumor of the soft tissue|neoplasm of soft tissue|benign neoplasm of the soft tissue and bone|benign connective and soft tissue neoplasm|neoplasm of soft tissues|benign connective and soft tissue tumor|connective and soft tissue neoplasm, benign|connective tissue benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000654	NCIT:C53684|DOID:0060123	
MONDO:0000653	biolink:Disease	integumentary system cancer	A malignant neoplasm involving the integumental system	DOID:0060122	mondo.json	malignant neoplasm of integumental system|cancer of integumental system|integumental system cancer|malignant integumental system neoplasm	http://purl.obolibrary.org/obo/MONDO_0000653	DOID:0060122	
MONDO:0024624	biolink:Disease	obsolete atrophy of lacrimal gland	OBSOLETE. A degenerative disorder that involves the lacrimal gland.	SCTID:91951001|UMLS:C0339119	mondo.json	degenerative disorder of lacrimal gland|lacrimal gland degenerative disorder|lacrimal atrophy|atrophy of lacrimal gland	http://purl.obolibrary.org/obo/MONDO_0024624	http://identifiers.org/snomedct/91951001|UMLS:C0339119	
MONDO:0012638	biolink:Disease	microphthalmia-brain atrophy syndrome	Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.	SCTID:720010009|GARD:0009292|Orphanet:77299|MESH:C566985|OMIM:611222	mondo.json	microphthalmia and brain atrophy|MOBA|syndromic microphthalmia type 10|MOBA syndrome|microphthalmia, syndromic 10|microphthalmia syndromic 10|MCOPS10	http://purl.obolibrary.org/obo/MONDO_0012638	http://identifiers.org/mesh/C566985|Orphanet:77299|http://identifiers.org/snomedct/720010009|https://omim.org/entry/611222	gard_rare|ordo_malformation_syndrome
MONDO:0012639	biolink:Disease	hereditary spastic paraplegia 18	A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.	OMIM:611225|Orphanet:209951|DOID:0110771|MESH:C567628|GARD:0004922|SCTID:732932004	mondo.json	autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2|spastic paraplegia 18, autosomal recessive|autosomal recessive spastic paraplegia type 18|SPG18|hereditary spastic paraplegia type 18|spastic paraplegia 18|intellectual disability, motor dysfunction and joint contractures|ERLIN2 autosomal recessive complex spastic paraplegia|autosomal recessive spastic paraplegia 18|intellectual disability, motor dysfunction, and Joint contractures	http://purl.obolibrary.org/obo/MONDO_0012639	Orphanet:209951|DOID:0110771|https://omim.org/entry/611225|http://identifiers.org/snomedct/732932004|http://identifiers.org/mesh/C567628	ordo_disease
MONDO:0012636	biolink:Disease	restless legs syndrome, susceptibility to, 6		GARD:0010273|OMIM:611185	mondo.json	periodic limb movements in sleep|restless legs syndrome 6|RLS6|restless legs syndrome, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0012636	https://omim.org/entry/611185	predisposition
MONDO:0012637	biolink:Disease	COG1-congenital disorder of glycosylation	COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.	Orphanet:263508|OMIM:611209|GARD:0010226|DOID:0070259|MESH:C535756|SCTID:718750004	mondo.json	CDG2G|CDG IIg|COG1-CDG|congenital disorder of glycosylation, type IIg|congenital disorder of glycosylation type IIg|CDG syndrome type IIg|congenital disorder of glycosylation type 2g|COG1-CDG (CDG-IIg)|CDG 2G|CDG-IIg|carbohydrate deficient glycoprotein syndrome type IIg|COG1-congenital disorder of glycosylation|Cdgii/Cog1 Cerebrocostomandibular-like syndrome	http://purl.obolibrary.org/obo/MONDO_0012637	http://identifiers.org/mesh/C535756|Orphanet:263508|DOID:0070259|https://omim.org/entry/611209|http://identifiers.org/snomedct/718750004	ordo_disease
NCBITaxon:28845	biolink:OrganismalEntity	Dibothriocephalus dendriticus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_28845		
MONDO:0012641	biolink:Disease	restless legs syndrome, susceptibility to, 5		OMIM:611242|GARD:0010272	mondo.json	restless legs syndrome 5|RLS5|restless legs syndrome, susceptibility to, 5|RLS 5	http://purl.obolibrary.org/obo/MONDO_0012641	https://omim.org/entry/611242	predisposition
MONDO:0012642	biolink:Disease	major affective disorder 4		MESH:C567073|OMIM:611247	mondo.json	major affective disorder 4|MAFD4|MAJOR affective disorder 4|bipolar affective disorder	http://purl.obolibrary.org/obo/MONDO_0012642	https://omim.org/entry/611247|http://identifiers.org/mesh/C567073	
HGNC:4198	biolink:NamedThing	GCM2			mondo.json		http://identifiers.org/hgnc/4198		
NCBITaxon:28843	biolink:OrganismalEntity	Diphyllobothriidae		GC_ID:1	mondo.json	Ligulidae	http://purl.obolibrary.org/obo/NCBITaxon_28843		
MONDO:0012640	biolink:Disease	Charcot-Marie-Tooth disease type 4J	Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.	NCIT:C134954|SCTID:720638000|UMLS:C1970011|DOID:0110184|Orphanet:139515|MESH:C566984|GARD:0012443|OMIM:611228	mondo.json	Charcot-Marie-Tooth disease, type 4J|Charcot-Marie-Tooth disease, autosomal recessive, type 4J|FIG4 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4 caused by mutation in FIG4|CMT4J|autosomal recessive Charcot-Marie-Tooth disease type 4J	http://purl.obolibrary.org/obo/MONDO_0012640	Orphanet:139515|http://identifiers.org/snomedct/720638000|UMLS:C1970011|https://omim.org/entry/611228|NCIT:C134954|http://identifiers.org/mesh/C566984|DOID:0110184	ordo_disease|gard_rare
NCBITaxon:28844	biolink:OrganismalEntity	Diphyllobothrium		GC_ID:1	mondo.json	fish tapeworms|broad tapeworm|broad tapeworms	http://purl.obolibrary.org/obo/NCBITaxon_28844		
MONDO:0012645	biolink:Disease	glaucoma 1, open angle, N		OMIM:611274|MESH:C566977|UMLS:C1969812	mondo.json	glaucoma 1, open angle, N|JOAG1N|GLC1N	http://purl.obolibrary.org/obo/MONDO_0012645	UMLS:C1969812|https://omim.org/entry/611274|http://identifiers.org/mesh/C566977	
HGNC:4195	biolink:NamedThing	GCK			mondo.json		http://identifiers.org/hgnc/4195		
MONDO:0012646	biolink:Disease	glaucoma 1, open angle, H		UMLS:C1969811|MESH:C566976|OMIM:611276	mondo.json	glaucoma 1, open angle, H|GLC1H	http://purl.obolibrary.org/obo/MONDO_0012646	UMLS:C1969811|https://omim.org/entry/611276|http://identifiers.org/mesh/C566976	obsoletion_candidate
MONDO:0012643	biolink:Disease	hereditary spastic paraplegia 32	Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.	DOID:0110783|GARD:0012749|OMIM:611252|UMLS:C1970009|SCTID:726606003|MESH:C566983|Orphanet:171622|UMLS:C4511958	mondo.json	spastic paraplegia 32, autosomal recessive|spastic paraplegia 32|SPG32|hereditary spastic paraplegia type 32|autosomal recessive spastic paraplegia type 32|autosomal recessive spastic paraplegia 32	http://purl.obolibrary.org/obo/MONDO_0012643	UMLS:C1970009|UMLS:C4511958|https://omim.org/entry/611252|Orphanet:171622|http://identifiers.org/mesh/C566983|http://identifiers.org/snomedct/726606003|DOID:0110783	ordo_disease
HGNC:4193	biolink:NamedThing	GCH1			mondo.json		http://identifiers.org/hgnc/4193		
MONDO:0012644	biolink:Disease	asphyxiating thoracic dystrophy 2	Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene.	OMIM:611263|DOID:0110086|UMLS:C1970005|MESH:C566982	mondo.json	SRTD2|Jeune syndrome caused by mutation in IFT80|asphyxiating thoracic dystrophy type 2|asphyxiating thoracic dystrophy 2|ATD2|short-rib thoracic dysplasia 2 with or without polydactyly|IFT80 Jeune syndrome	http://purl.obolibrary.org/obo/MONDO_0012644	UMLS:C1970005|https://omim.org/entry/611263|DOID:0110086|http://identifiers.org/mesh/C566982	
HGNC:4192	biolink:NamedThing	GCGR			mondo.json		http://identifiers.org/hgnc/4192		
HGNC:21219	biolink:NamedThing	CILK1			mondo.json		http://identifiers.org/hgnc/21219		
MONDO:0000649	biolink:Disease	sensory system cancer	A malignant neoplasm involving the sensory system	DOID:0060116	mondo.json	malignant sensory system neoplasm|malignant neoplasm of sensory system|sensory system cancer|cancer of sensory system	http://purl.obolibrary.org/obo/MONDO_0000649	DOID:0060116	
MONDO:0024616	biolink:Disease	tympanitis	An inflammatory disease involving a pathogenic inflammatory response in the tympanic membrane.	UMLS:C0027134|SCTID:14852000	mondo.json	inflammation of tympanic membrane|tympanic membrane inflammation|myringitis	http://purl.obolibrary.org/obo/MONDO_0024616	UMLS:C0027134|http://identifiers.org/snomedct/14852000	
MONDO:0000648	biolink:Disease	nervous system benign neoplasm	Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas).	NCIT:C4789|ICD9:225.8|ICD9:225.9|UMLS:C0497550|SCTID:92247009|DOID:0060115	mondo.json	benign tumor of nervous system|benign tumor of the nervous system|benign neoplasm of nervous system|benign nervous system tumor|benign neoplasm of the nervous system|nervous system neoplasm, benign|benign nervous system neoplasm|nervous system benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000648	DOID:0060115|UMLS:C0497550|NCIT:C4789|http://identifiers.org/snomedct/92247009	
MONDO:0024615	biolink:Disease	T-cell and NK-cell neoplasm		UMLS:C1336554|NCIT:C27908	mondo.json	T-cell neoplasm|T-cell and NK-cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0024615	NCIT:C27908|UMLS:C1336554	
MONDO:0024618	biolink:Disease	poliovirus infection	An disease or disorder caused by infection with Enterovirus C.	SCTID:721764008|UMLS:C4303135	mondo.json	human poliovirus infection|infection caused by human poliovirus|Enterovirus C infectious disease|Enterovirus C caused disease or disorder|Enterovirus C disease or disorder	http://purl.obolibrary.org/obo/MONDO_0024618	UMLS:C4303135|http://identifiers.org/snomedct/721764008	
MONDO:0000647	biolink:Disease	benign vaginal neoplasm	A non-metastasizing neoplasm that arises from the vagina. Representative examples include squamous papilloma and melanocytic nevus.	ICD9:221.1|NCIT:C3610|UMLS:C0154002|DOID:0060114|SCTID:92473001	mondo.json	benign vaginal neoplasm|vaginal benign neoplasm|benign vaginal tumor|vagina female reproductive organ benign neoplasm|vagina benign neoplasm|benign tumor of vagina|benign vaginal neoplasms|benign tumor of the vagina|benign neoplasm of vagina|benign neoplasm of the vagina	http://purl.obolibrary.org/obo/MONDO_0000647	DOID:0060114|UMLS:C0154002|NCIT:C3610|http://identifiers.org/snomedct/92473001	
MONDO:0000646	biolink:Disease	ovarian benign neoplasm	A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma.	DOID:0060112|NCIT:C2895|SCTID:92260003|EFO:1000116	mondo.json	benign neoplasm of the ovary|benign neoplasm of ovary|benign tumor of the ovary|benign tumor of ovary|benign ovarian neoplasm|benign ovarian tumor|ovary benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000646	http://identifiers.org/snomedct/92260003|DOID:0060112|NCIT:C2895	
MONDO:0024617	biolink:Disease	xanthogranuloma		SCTID:189099001|NCIT:C27302	mondo.json	xanthogranuloma	http://purl.obolibrary.org/obo/MONDO_0024617	NCIT:C27302|http://identifiers.org/snomedct/189099001	
HP:0410243	biolink:PhenotypicFeature	Abnormal circulating IgM level	An abnormal deviation from normal levels of IgM immunoglobulin in blood.		mondo.json	Abnormal IgM level in blood	http://purl.obolibrary.org/obo/HP_0410243		
MONDO:0024619	biolink:Disease	central nervous system infectious disorder	An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis.	MESH:D002494|UMLS:C0007684|NCIT:C27582|ICD9:349.89|EFO:1001456|SCTID:128117002	mondo.json	central nervous system infectious disorder|infectious disease of central nervous system|central nervous system infectious disease|infections, central nervous system|central nervous system infection	http://purl.obolibrary.org/obo/MONDO_0024619	http://identifiers.org/snomedct/128117002|UMLS:C0007684|NCIT:C27582|http://identifiers.org/mesh/D002494	
MONDO:0000663	biolink:Disease	anosognosia	An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.	DOID:0060133	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000663	DOID:0060133	
MONDO:0000662	biolink:Disease	amusia	An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.	UMLS:C0234497|DOID:0060132	mondo.json	receptive amusia	http://purl.obolibrary.org/obo/MONDO_0000662	UMLS:C0234497|DOID:0060132	
MONDO:0024610	biolink:Disease	parasitic skin disorder	Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites.	UMLS:C0037280|MESH:D012876	mondo.json	skin disease, parasitic|parasitic skin disease|disease, parasitic skin|parasitic skin diseases|diseases, parasitic skin	http://purl.obolibrary.org/obo/MONDO_0024610	UMLS:C0037280|http://identifiers.org/mesh/D012876	
MONDO:0000661	biolink:Disease	alexithymia	An agnosia that is a deficiency in understanding, processing, or describing emotions.	DOID:0060131	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000661	DOID:0060131	
GO:2000819	biolink:NamedThing	regulation of nucleotide-excision repair	Any process that modulates the frequency, rate or extent of nucleotide-excision repair.		mondo.json	regulation of interstrand crosslink repair|regulation of NER|regulation of pyrimidine-dimer repair, DNA damage excision|regulation of intrastrand cross-link repair	http://purl.obolibrary.org/obo/GO_2000819		
MONDO:0000660	biolink:Disease	akinetopsia	An agnosia that is a loss of motion perception.	DOID:0060130	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000660	DOID:0060130	
MONDO:0024612	biolink:Disease	manic bipolar affective disorder	The manic phase of bipolar disorder.	NCIT:C34805|SCTID:191618007	mondo.json	manic bipolar affective disorder|manic-depressive - now manic|bipolar affective disorder, current episode manic	http://purl.obolibrary.org/obo/MONDO_0024612	http://identifiers.org/snomedct/191618007|NCIT:C34805	
HGNC:21237	biolink:NamedThing	UQCC2			mondo.json		http://identifiers.org/hgnc/21237		
MONDO:0000667	biolink:Disease	auditory agnosia	An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal.	DOID:0060137	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000667	DOID:0060137	
MONDO:0024611	biolink:Disease	orbit neoplasm	A benign or malignant neoplasm that affects the orbit.	NCIT:C3290	mondo.json	orbit of skull neoplasm|neoplasm of orbit|orbit tumor|neoplasm of orbit of skull|orbit of skull tumor|orbital tumor|tumor of the orbit|orbital neoplasm|tumor of orbit|orbital neoplasms|tumor of orbit of skull|orbit neoplasm|neoplasm of the orbit	http://purl.obolibrary.org/obo/MONDO_0024611	NCIT:C3290	
MONDO:0000666	biolink:Disease	associative visual agnosia	An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them.	DOID:0060136	mondo.json	associative agnosia	http://purl.obolibrary.org/obo/MONDO_0000666	DOID:0060136	
MONDO:0000665	biolink:Disease	apraxia	Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some cases it is present from birth. There are several types of apraxia, which may occur alone or together. These include: Buccofacial or orofacial apraxia is the inability to carry out facial movements on demand. This may include licking the lips, sticking out the tongue, whistling, coughing, or winking. Ideational apraxia is the inability to carryout learned, complex tasks with multiple, sequential movements. This may include dressing, eating, and bathing. Ideomotor apraxia is the inability to perform a learned task (such as using a tool) or communicate using gestures (like waving good-bye). Limb-kinetic apraxia is the inability to make fine, precise movements with an arm or leg. This may include buttoning a shirt or tying a shoe. Verbal apraxia is difficulty coordinating mouth and speech movements. Verbal apraxia may be acquired or present from birth. Constructional apraxia is the inability to copy, draw, or construct simple figures. Oculomotor apraxia is difficulty moving the eyes on command. Treatment of apraxia may include physical, speech, or occupational therapy. If apraxia occurs as a symptom of another disorder, treatment should be directed to the underlying condition.	GARD:0005838|DOID:0060135|ICD10CM:R48.2|MESH:D001072	mondo.json	dyspraxia|Apraxias	http://purl.obolibrary.org/obo/MONDO_0000665	http://identifiers.org/mesh/D001072|DOID:0060135|http://purl.bioontology.org/ontology/ICD10CM/R48.2	gard_rare
MONDO:0024614	biolink:Disease	neurotic depression	A term used for any state of depression that is not psychotic.	NCIT:C35369	mondo.json	neurotic depression	http://purl.obolibrary.org/obo/MONDO_0024614	NCIT:C35369	
MONDO:0024613	biolink:Disease	bipolar depression	The depressive stage of bipolar disorder.	NCIT:C34424|SCTID:191627008	mondo.json	bipolar affective disorder, current episode depression|bipolar depression|manic-depressive - now depressed	http://purl.obolibrary.org/obo/MONDO_0024613	http://identifiers.org/snomedct/191627008|NCIT:C34424	
MONDO:0000664	biolink:Disease	apperceptive agnosia	An agnosia that is a loss of the ability to distinguish visual shapes.	DOID:0060134	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000664	DOID:0060134	
MONDO:0012627	biolink:Disease	epilepsy, idiopathic generalized, susceptibility to, 13	An inherited susceptibility or predisposition to developing juvenile myclonic epilepsy, idiopathic generalized epilepsy, or childhood absence epilepsy in which the cause of the disease is a mutation in the GABRA1 gene.	OMIM:611136|MESH:C567002|DOID:0111314|Orphanet:64280	mondo.json	epilepsy, childhood absence, susceptibility to, 4|epilepsy, idiopathic generalized, susceptibility to, 13|susceptibility to idiopathic generalized epilepsy 13|epilepsy, idiopathic generalized, susceptibility to, type 13|GABRA1 juvenile myoclonic epilepsy|EIG13|epilepsy, juvenile myoclonic, susceptibility to, 5|juvenile myoclonic epilepsy caused by mutation in GABRA1	http://purl.obolibrary.org/obo/MONDO_0012627	DOID:0111314|https://omim.org/entry/611136|http://identifiers.org/mesh/C567002	predisposition
MONDO:0012628	biolink:Disease	coronary heart disease, susceptibility to, 8		OMIM:611139	mondo.json	coronary heart disease, susceptibility to, 8|CHDS8	http://purl.obolibrary.org/obo/MONDO_0012628	https://omim.org/entry/611139	predisposition
GO:0099240	biolink:NamedThing	intrinsic component of synaptic membrane	The component of the synaptic membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane.		mondo.json	intrinsic to synaptic membrane	http://purl.obolibrary.org/obo/GO_0099240		
MONDO:0012625	biolink:Disease	retinitis pigmentosa 37	Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene.	MESH:C567005|UMLS:C1970163|OMIM:611131|DOID:0110399|ICD10CM:H35.5	mondo.json	RP37|retinitis pigmentosa caused by mutation in NR2E3|retinitis pigmentosa 37|NR2E3 retinitis pigmentosa|retinitis pigmentosa type 37	http://purl.obolibrary.org/obo/MONDO_0012625	DOID:0110399|UMLS:C1970163|https://omim.org/entry/611131|http://identifiers.org/mesh/C567005	
MONDO:0012626	biolink:Disease	Meckel syndrome, type 4	Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene.	OMIM:611134|UMLS:C1970161|DOID:0070118	mondo.json	Meckel-like Cerebrorenodigital syndrome|Meckel-Gruber syndrome, type 4|MKS4|Meckel syndrome caused by mutation in CEP290|Meckel syndrome, type 4|CEP290 Meckel syndrome|Meckel syndrome 4	http://purl.obolibrary.org/obo/MONDO_0012626	DOID:0070118|https://omim.org/entry/611134|UMLS:C1970161	
MONDO:0012629	biolink:Disease	paroxysmal nonkinesigenic dyskinesia 2	A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in variation in the chromosome region 2q31.	UMLS:C1970149|MESH:C567001|OMIM:611147|DOID:0090047	mondo.json	paroxysmal nonkinesigenic dyskinesia type 2|dystonia 20|PNKD2|paroxysmal nonkinesigenic dyskinesia 2	http://purl.obolibrary.org/obo/MONDO_0012629	DOID:0090047|UMLS:C1970149|https://omim.org/entry/611147|http://identifiers.org/mesh/C567001	
MONDO:0012630	biolink:Disease	Alzheimer disease 13	An Alzheimer's disease that is characterized by an associated with variation in the region 1q21.	MESH:C567000|DOID:0110046|OMIM:611152|UMLS:C1970147	mondo.json	Alzheimer's disease type 13|Alzheimer disease 13|AD13|Alzheimer disease-13|Alzheimer's disease 13	http://purl.obolibrary.org/obo/MONDO_0012630	UMLS:C1970147|https://omim.org/entry/611152|http://identifiers.org/mesh/C567000|DOID:0110046	
MONDO:0012631	biolink:Disease	Alzheimer disease 14	An Alzheimer's disease that is characterized by an associated with variation in the region 1q25.	OMIM:611154|DOID:0110047|MESH:C566999|UMLS:C1970144	mondo.json	Alzheimer disease 14|AD14|Alzheimer disease-14|Alzheimer's disease 14|Alzheimer's disease type 14	http://purl.obolibrary.org/obo/MONDO_0012631	UMLS:C1970144|https://omim.org/entry/611154|DOID:0110047|http://identifiers.org/mesh/C566999	
MONDO:0012634	biolink:Disease	craniofacial dysplasia - osteopenia syndrome		Orphanet:314555|OMIM:611174|MESH:C566988|UMLS:C1970027	mondo.json	HMMS|Hamamy syndrome|hypertelorism, Severe, with midface prominence, myopia, mental retardation, and bone fragility|HAMAMY syndrome|hypertelorism, Severe, with midface prominence, myopia, intellectual disability, and bone fragility	http://purl.obolibrary.org/obo/MONDO_0012634	Orphanet:314555|https://omim.org/entry/611174|UMLS:C1970027|http://identifiers.org/mesh/C566988	ordo_malformation_syndrome
MONDO:0012635	biolink:Disease	COG8-congenital disorder of glycosylation	The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.	SCTID:717774004|DOID:0070260|Orphanet:95428|OMIM:611182|MESH:C566987|GARD:0012411|UMLS:C1970021	mondo.json	congenital disorder of glycosylation type 2h|COG8-CDG|COG8-congenital disorder of glycosylation|congenital disorder of glycosylation, type IIh|CDG2H|carbohydrate deficient glycoprotein syndrome type IIh|CDG-IIh|congenital disorder of glycosylation type IIh|CDG syndrome type IIh|CDG IIh|COG8-CDG (CDG-IIh)	http://purl.obolibrary.org/obo/MONDO_0012635	Orphanet:95428|UMLS:C1970021|DOID:0070260|https://omim.org/entry/611182|http://identifiers.org/snomedct/717774004|http://identifiers.org/mesh/C566987	ordo_disease
MONDO:0012632	biolink:Disease	obsolete Alzheimer disease 15			mondo.json		http://purl.obolibrary.org/obo/MONDO_0012632		
MONDO:0012633	biolink:Disease	obsolete malaria			mondo.json		http://purl.obolibrary.org/obo/MONDO_0012633		
MONDO:0000659	biolink:Disease	delta-heavy chain disease	A heavy chain disease that results from an overproduction of delta antibody (IgD).	SCTID:20224008|UMLS:C0272253|DOID:0060129|ICD9:203.80	mondo.json	delta heavy chain disease|IgD heavy chain disease|delta chain disease	http://purl.obolibrary.org/obo/MONDO_0000659	DOID:0060129|http://identifiers.org/snomedct/20224008|UMLS:C0272253	
MONDO:0024607	biolink:Disease	congenital muscular dystrophy with cataracts and intellectual disability	A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.	OMIM:617404|UMLS:C4479410|DOID:0080197|EFO:0009149	mondo.json	MDCCAID|muscular dystrophy, congenital, with cataracts and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0024607	https://omim.org/entry/617404|UMLS:C4479410|DOID:0080197	
MONDO:0000658	biolink:Disease	obsolete mu chain disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000658		
MONDO:0000657	biolink:Disease	obsolete gamma heavy chain disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000657		
MONDO:0024609	biolink:Disease	vulvar squamous cell carcinoma	An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)	UMLS:C0280856|DOID:2101|NCIT:C4052|EFO:1000624|Orphanet:494448|SCTID:254895003	mondo.json	vulvar epidermoid carcinoma|epidermoid carcinoma of the vulva|epidermoid carcinoma of vulva|epidermoid cell carcinoma of the vulva|vulvar squamous cell cancer|epidermoid cell carcinoma of vulva|vulvar epidermoid cell carcinoma|mammalian vulva squamous cell carcinoma|squamous cell carcinoma of the vulva|vulva epidermoid cell carcinoma|vulvar squamous cell carcinoma|vulva epidermoid carcinoma|squamous cell carcinoma of vulva|vulva squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0024609	Orphanet:494448|DOID:2101|UMLS:C0280856|NCIT:C4052|http://identifiers.org/snomedct/254895003	
MONDO:0024608	biolink:Disease	dientamoebiasis	Gastrointestinal infection with organisms of the genus dientamoeba.	DOID:946|MESH:D004030|SCTID:67915005	mondo.json	Dientamoeba disease or disorder|Dientamoeba infectious disease|Dientamoeba caused disease or disorder|Dientamoebiases|intestinal trichomoniasis	http://purl.obolibrary.org/obo/MONDO_0024608	DOID:946|http://identifiers.org/snomedct/67915005|http://identifiers.org/mesh/D004030	
CARO:0000000	biolink:NamedThing	anatomical entity			mondo.json		http://purl.obolibrary.org/obo/CARO_0000000		
CARO:0000003	biolink:NamedThing	connected anatomical structure			mondo.json		http://purl.obolibrary.org/obo/CARO_0000003		
MONDO:0024685	biolink:Disease	Philadelphia-positive myelogenous leukemia		NCIT:C3177|UMLS:C0023476	mondo.json	Philadelphia-positive myelogenous leukemia|Philadelphia-positive myelocytic leukemia|Ph1-positive granulocytic leukemia|Ph1-positive myelocytic leukemia|Ph1-positive myeloid leukemia|Ph1-positive myelogenous leukemia|Philadelphia-positive granulocytic leukemia|Philadelphia-positive myeloid leukemia	http://purl.obolibrary.org/obo/MONDO_0024685	UMLS:C0023476|NCIT:C3177	
MONDO:0022022	biolink:Disease	bowenoid papulosis	Dysplastic papular lesions presenting on the genitalia of either sex. The lesions are associated with human papillomavirus infection. The majority of cases have a benign clinical course, although, a small number of cases with malignant transformation have been reported.	SCTID:402913004|ICD9:447.8|GARD:0005951|NCIT:C8374|UMLS:C0334106	mondo.json	Bowenoid papulosis|bowenoid papulosis|BP	http://purl.obolibrary.org/obo/MONDO_0022022	NCIT:C8374|http://identifiers.org/snomedct/402913004|UMLS:C0334106	gard_rare
HP:0011450	biolink:PhenotypicFeature	Unusual CNS infection	A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection.	MSH:D002494|UMLS:C0007684|SNOMEDCT_US:128117002	mondo.json	Central nervous system infection	http://purl.obolibrary.org/obo/HP_0011450		
HP:0011452	biolink:PhenotypicFeature	Functional abnormality of the middle ear	An abnormality of the function of the middle ear.	UMLS:C4021846	mondo.json	Functional abnormality of the middle ear	http://purl.obolibrary.org/obo/HP_0011452		
CARO:0000007	biolink:NamedThing	immaterial anatomical entity			mondo.json		http://purl.obolibrary.org/obo/CARO_0000007		
MONDO:0022025	biolink:Disease	boylan dew greco syndrome		UMLS:C2931419|MESH:C537083|GARD:0000954	mondo.json	congenital hypomyelination neuropathy with arthrogryposis multiplex congenita	http://purl.obolibrary.org/obo/MONDO_0022025	http://identifiers.org/mesh/C537083|UMLS:C2931419	gard_rare
MONDO:0024686	biolink:Disease	tenosynovial giant cell tumor, diffuse type	A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion.	NCIT:C3401|ICD9:719.20|ONCOTREE:TGCT|DOID:2702|UMLS:C0039106|ICD10CM:M12.2|DOID:9898|SCTID:95412009|ICD9:719.2|GARD:0007396|ICD9:719.28|EFO:1001106|MESH:D013586|ICDO:9251/0|Orphanet:66627	mondo.json	tenosynovial giant cell tumors|diffuse giant cell neoplasm of tendon sheath|diffuse giant cell neoplasm of Tenosynovium|villonodular synovitis|diffuse giant cell neoplasm of the Tenosynovium|pigmented villonodular synovitis|diffuse tenosynovial giant cell tumor|diffuse-type GCT|diffuse giant cell tumor of the Tenosynovium|tenosynovial giant cell tumor diffuse type|TSGCT|tenosynovial giant cell tumor|localized pigmented villonodular synovitis|tenosynovial giant cell tumor, diffuse type|diffuse-type giant cell tumor|TGCT|diffuse tenosynovial giant cell neoplasm|diffuse pigmented villonodular synovitis|diffuse giant cell tumor of Tenosynovium|diffuse giant cell tumor of tendon sheath|villous tenosynovitis	http://purl.obolibrary.org/obo/MONDO_0024686	http://identifiers.org/mesh/D013586|http://purl.bioontology.org/ontology/ICD10CM/M12.2|DOID:2702|Orphanet:66627|http://identifiers.org/snomedct/95412009|DOID:9898|NCIT:C3401|UMLS:C0039106	ordo_disease|gard_rare
CARO:0000006	biolink:NamedThing	material anatomical entity			mondo.json		http://purl.obolibrary.org/obo/CARO_0000006		
MONDO:0009049	biolink:Disease	Cushing syndrome due to macronodular adrenal hyperplasia	A rare type of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS.	GARD:0010824|Orphanet:189427|UMLS:CN200644|MESH:C565662|SCTID:720459002|UMLS:C2062388	mondo.json	primary bilateral macronodular adrenal hyperplasia|ACTH-independent Cushing syndrome|MMAD|AIMAH|ACTH-independent macronodular adrenocortical hyperplasia|primary macronodular adrenal hyperplasia|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia|massive macronodular adrenocortical disease	http://purl.obolibrary.org/obo/MONDO_0009049	UMLS:C2062388|Orphanet:189427|UMLS:CN200644|http://identifiers.org/mesh/C565662|http://identifiers.org/snomedct/720459002	gard_rare|prototype_pattern|ordo_disease
MONDO:0009048	biolink:Disease	curved nail of fourth toe		OMIM:219070	mondo.json	curved nail of fourth toe|claw-like fingers and toes	http://purl.obolibrary.org/obo/MONDO_0009048	https://omim.org/entry/219070	
MONDO:0009047	biolink:Disease	cryptorchidism	The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life.	SCTID:204878001|ICD9:752.5|NCIT:C12326|DOID:11383|OMIM:219050|MESH:D003456|ICD9:752.51|HP:0000028|EFO:0004562	mondo.json	undescended testis|undescended testicles|cryptorchism|undescended testes|undescended testicle|cryptorchidism|cryptorchidism (disease)|cryptorchidism, unilateral or bilateral	http://purl.obolibrary.org/obo/MONDO_0009047	NCIT:C12326|http://identifiers.org/mesh/D003456|https://omim.org/entry/219050|http://identifiers.org/snomedct/204878001|DOID:11383	
MONDO:0009046	biolink:Disease	Fraser syndrome	Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.	GARD:0006465|OMIMPS:219000|SCTID:204102004|NCIT:C118436|DOID:0090001|UMLS:C0265233|MESH:D058497|Orphanet:2052	mondo.json	cryptophthalmos-syndactyly syndrome|cryptophthalmos with Other malformations|cryptophthalmos syndrome|Ulrich-Feichtiger syndrome|cryptophthalmos with other malformations|cyclopism|Fraser-Francois syndrome|Meyer-Schwickerath's syndrome|Fraser syndrome	http://purl.obolibrary.org/obo/MONDO_0009046	http://identifiers.org/mesh/D058497|Orphanet:2052|NCIT:C118436|UMLS:C0265233|https://omim.org/phenotypicSeries/PS219000|DOID:0090001|http://identifiers.org/snomedct/204102004	gard_rare|ordo_malformation_syndrome|prototype_pattern
MONDO:0022020	biolink:Disease	Boudhina Yedes Khiari syndrome	Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions	UMLS:C2931668|GARD:0000945|MESH:C537939	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022020	http://identifiers.org/mesh/C537939|UMLS:C2931668	gard_rare
MONDO:0009045	biolink:Disease	cataract-nephropathy-encephalopathy syndrome	Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.	GARD:0001614|OMIM:218900|MESH:C536216|SCTID:722381004|Orphanet:1380|UMLS:C0795914	mondo.json	crome syndrome|congenital cataracts, renal tubular necrosis and encephalopathy in two sisters	http://purl.obolibrary.org/obo/MONDO_0009045	http://identifiers.org/snomedct/722381004|Orphanet:1380|UMLS:C0795914|http://identifiers.org/mesh/C536216|https://omim.org/entry/218900	ordo_malformation_syndrome
MONDO:0010044	biolink:Disease	hereditary spastic paraplegia 15	Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.	GARD:0009581|OMIM:270700|DOID:0110768|Orphanet:100996|MESH:C536642|SCTID:709417000|UMLS:C1849128	mondo.json	autosomal recessive complex spastic paraplegia caused by mutation in ZFYVE26|autosomal recessive spastic paraplegia type 15|hereditary spastic paraplegia type 15|recessive spastic paraplegia with retinal degeneration|spastic paraplegia-retinal degeneration syndrome|autosomal recessive spastic paraplegia 15|SPG15|spastic paraplegia and retinal degeneration|Kjellin syndrome|hereditary spastic paraplegia 15|hereditary spastic paraparesis type 15|spastic paraplegia 15|spastic paraplegia and retinal Degeneration|ZFYVE26 autosomal recessive complex spastic paraplegia|spastic paraplegia 15, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0010044	http://identifiers.org/mesh/C536642|https://omim.org/entry/270700|UMLS:C1849128|DOID:0110768|http://identifiers.org/snomedct/709417000|Orphanet:100996	ordo_disease
MONDO:0009044	biolink:Disease	Crigler-Najjar syndrome	Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.	NCIT:C84656|Orphanet:205|DOID:3803|MedDRA:10011386|MESH:D003414|UMLS:C0010324|SCTID:28259009|UMLS:CN119421|ICD10CM:E80.5	mondo.json	Crigler-Najjar syndrome|bilirubin UDP glucuronyl transferase deficiency|hereditary unconjugated hyperbilirubinemia|UGT deficiency|bilirubin uridinediphosphate glucuronosyltransferase deficiency|bilirubin-UGT deficiency|Crigler Najjar syndrome	http://purl.obolibrary.org/obo/MONDO_0009044	NCIT:C84656|http://identifiers.org/mesh/D003414|http://purl.bioontology.org/ontology/ICD10CM/E80.5|UMLS:CN119421|Orphanet:205|DOID:3803|UMLS:C0010324|http://identifiers.org/snomedct/28259009	ordo_disease
MONDO:0009043	biolink:Disease	generalized resistance to thyroid hormone	A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues.	Orphanet:3221	mondo.json	Refetoff syndrome|deafness-thyroid hormone resistance syndrome|GRTH	http://purl.obolibrary.org/obo/MONDO_0009043	Orphanet:3221	ordo_disease
MONDO:0010043	biolink:Disease	hereditary spastic paraplegia 17	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene.	Orphanet:100998|MESH:C536644|UMLS:CN074197|UMLS:C2931276|DOID:0110770|OMIM:270685|GARD:0004219	mondo.json	hereditary spastic paraplegia caused by mutation in BSCL2|spastic paraplegia 17, autosomal dominant|Silver spastic paraplegia syndrome|SPG17|autosomal dominant spastic paraplegia 17|dHMN5B|hereditary spastic paraplegia type 17|spastic paraplegia with amyotrophy of hands and feet|autosomal dominant spastic paraplegia type 17|distal hereditary motor neuropathy type 5B|spastic paraplegia 17|BSCL2 hereditary spastic paraplegia|Silver syndrome|spastic paraplegia-amyotrophy of hands and feet	http://purl.obolibrary.org/obo/MONDO_0010043	http://identifiers.org/mesh/C536644|https://omim.org/entry/270685|DOID:0110770|UMLS:C2931276|UMLS:CN074197|Orphanet:100998	ordo_disease
MONDO:0010046	biolink:Disease	hereditary spastic paraplegia 23	Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.	GARD:0000336|SCTID:726608002|UMLS:C0796019|DOID:0110774|OMIM:270750|Orphanet:101003|MESH:C536859	mondo.json	spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome|spastic paraparesis, vitiligo, premature graying, characteristic facies|spastic paraplegia vitiligo premature graying and characteristic facies|SPG23|spastic paraplegia with pigmentary abnormalities|DSTYK autosomal recessive complex spastic paraplegia|SPG 23|spastic paraplegia and pigmentary abnormalities|autosomal recessive spastic paraplegia type 23|autosomal recessive complex spastic paraplegia caused by mutation in DSTYK|hereditary spastic paraplegia type 23|spastic paraplegia 23|Lison syndrome	http://purl.obolibrary.org/obo/MONDO_0010046	http://identifiers.org/snomedct/726608002|http://identifiers.org/mesh/C536859|https://omim.org/entry/270750|DOID:0110774|Orphanet:101003|UMLS:C0796019	ordo_disease
MONDO:0009042	biolink:Disease	craniotelencephalic dysplasia	Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.	GARD:0001605|UMLS:C1857471|MESH:C535597|Orphanet:1528|SCTID:715422002|OMIM:218670	mondo.json	Complex of anomalies involving the cranium and brain|craniotelencephalic dysplasia	http://purl.obolibrary.org/obo/MONDO_0009042	UMLS:C1857471|Orphanet:1528|http://identifiers.org/mesh/C535597|http://identifiers.org/snomedct/715422002|https://omim.org/entry/218670	ordo_malformation_syndrome|gard_rare
MONDO:0010045	biolink:Disease	obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome	OBSOLETE. This syndrome is characterized by slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely.	OMIM:270710|GARD:0002343|Orphanet:2823|UMLS:C0795942|MESH:C537938	mondo.json	FITZSIMMONS-Guilbert syndrome|spastic paraplegia associated with brachydactyly type E|moved to 270550, 190350, and 616944|Fitzsimmons-Guilbert syndrome|Fitzsimmons syndrome	http://purl.obolibrary.org/obo/MONDO_0010045	Orphanet:2823|UMLS:C0795942|http://identifiers.org/mesh/C537938|https://omim.org/entry/270710	
MONDO:0009041	biolink:Disease	craniosynostosis-intellectual disability-clefting syndrome	A recessive syndrome characterized by craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose.	UMLS:C1857472|MESH:C537906|GARD:0001599|UMLS:C2931663|MESH:C565663|GARD:0000817|OMIM:218650	mondo.json	craniosynostosis-intellectual disability-clefting syndrome|craniosynostosis intellectual disability clefting syndrome|craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose|craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose|Baraitser Rodeck garner syndrome|craniosynostosis mental retardation clefting syndrome|craniosynostosis-mental retardation-clefting syndrome	http://purl.obolibrary.org/obo/MONDO_0009041	UMLS:C1857472|http://identifiers.org/mesh/C537906|http://identifiers.org/mesh/C565663|https://omim.org/entry/218650|UMLS:C2931663	gard_rare
MONDO:0010048	biolink:Disease	spastic paraplegia with myoclonic epilepsy		UMLS:C1849114|OMIM:270805|MESH:C564810	mondo.json	spastic paraplegia with myoclonic epilepsy	http://purl.obolibrary.org/obo/MONDO_0010048	https://omim.org/entry/270805|UMLS:C1849114|http://identifiers.org/mesh/C564810	
MONDO:0009040	biolink:Disease	craniosynostosis-intellectual disability syndrome of 51N and Gettig		OMIM:218649|MESH:C565664|UMLS:C1857473|GARD:0010282	mondo.json	craniosynostosis-intellectual disability syndrome of Lin and Gettig|craniosynostosis-mental retardation syndrome of Lin and Gettig|Lin-Gettig syndrome	http://purl.obolibrary.org/obo/MONDO_0009040	UMLS:C1857473|http://identifiers.org/mesh/C565664|https://omim.org/entry/218649	
MONDO:0010047	biolink:Disease	hereditary spastic paraplegia 5A	Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.	UMLS:C2931357|Orphanet:100986|OMIM:270800|DOID:0110810|SCTID:763373005|GARD:0004926|UMLS:C1849115	mondo.json	spastic paraplegia type 5B, recessive|hereditary spastic paraplegia type 5A|CYP7B1 pure or complex autosomal recessive spastic paraplegia|spastic paraplegia type 5A|spastic paraplegia 5A, autosomal recessive|autosomal recessive spastic paraplegia|autosomal recessive spastic paraplegia type 5A|pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1|spastic paraplegia 5A|autosomal recessive spastic paraplegia 5A|SPG5A	http://purl.obolibrary.org/obo/MONDO_0010047	https://omim.org/entry/270800|UMLS:C1849115|DOID:0110810|UMLS:C2931357|http://identifiers.org/snomedct/763373005|Orphanet:100986	ordo_disease
MONDO:0010049	biolink:Disease	spastic paraplegia-glaucoma-intellectual disability syndrome	Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.	MESH:C564809|OMIM:270850|GARD:0004931|Orphanet:2818|UMLS:C1849113	mondo.json	spastic paresis glaucoma mental retardation|spastic paresis, glaucoma, and intellectual disability|spastic paresis, glaucoma, and mental retardation|spastic paresis glaucoma intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010049	Orphanet:2818|https://omim.org/entry/270850|UMLS:C1849113|http://identifiers.org/mesh/C564809	ordo_disease
HP:0011458	biolink:PhenotypicFeature	Abdominal symptom	A subjective manifestation of disease localized to the abdomen.	UMLS:C0740651	mondo.json		http://purl.obolibrary.org/obo/HP_0011458		
MONDO:0010040	biolink:Disease	ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability		OMIM:270500|UMLS:C1849156|UMLS:C3151619	mondo.json	ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability|ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation	http://purl.obolibrary.org/obo/MONDO_0010040	UMLS:C3151619|https://omim.org/entry/270500	
MONDO:0010042	biolink:Disease	spastic diplegia and intellectual disability		OMIM:270600|UMLS:C1849139|MESH:C537481|GARD:0004911	mondo.json	spastic diplegia and intellectual disability|spastic diplegia and mental retardation|spastic diplegia, infantile type|spastic diplegia infantile type|hereditary spastic diplegia with mental retardation|hereditary spastic diplegia with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010042	https://omim.org/entry/270600|UMLS:C1849139|http://identifiers.org/mesh/C537481	
MONDO:0010041	biolink:Disease	Charlevoix-Saguenay spastic ataxia	Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.	GARD:0004910|Orphanet:98|UMLS:C1849140|MESH:C536787|SCTID:702445005|DOID:0050946|OMIM:270550	mondo.json	spastic ataxia of Charlevoix-Saguenay|SPAX6|autosomal recessive spastic ataxia type 6|ARSACS|spastic ataxia Charlevoix-Saguenay type|sacs|spastic ataxia, Charlevoix-Saguenay type|autosomal recessive spastic ataxia of Charlevoix-Saguenay|Charlevoix-Saguenay spastic ataxia|spastic ataxia 6, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0010041	https://omim.org/entry/270550|DOID:0050946|http://identifiers.org/mesh/C536787|UMLS:C1849140|Orphanet:98|http://identifiers.org/snomedct/702445005	ordo_disease
MONDO:0024674	biolink:Disease	Pancoast syndrome	A rare neoplastic syndrome characterized by obstruction of the thoracic outlet leading to compression of the brachial plexus and vessels within. It is usually caused by a malignant neoplasm in the superior pulmonary sulcus. The most commonly involved neoplasms are non-small cell lung carcinomas. Clinical signs include Horner's syndrome, shoulder pain radiating down the arm in the ulnar distribution followed by edema and atrophy of the affected extremity. Clinical course usually leads to early local invasion of the bony thoracic structures. Prognosis is highly stage-dependent.	NCIT:C55815|UMLS:C0030271|MESH:D010178|SCTID:278065000	mondo.json	syndrome, Pancoast|tumor, Pancoast|syndrome, Pancoast's|Pancoast's syndrome|Pancoast tumor|Pancoasts syndrome|superior pulmonary sulcus syndrome|Pancoast syndrome	http://purl.obolibrary.org/obo/MONDO_0024674	UMLS:C0030271|http://identifiers.org/mesh/D010178|http://identifiers.org/snomedct/278065000|NCIT:C55815	
MONDO:0022011	biolink:Disease	bobble-head doll syndrome	Bobble-head doll syndrome (BHDS) is a rare neurological condition thatis typically first seen in childhood. The signs and symptoms of BHDS includecharacteristic up and downhead movements that increase during walking and excitement and decrease during concentration.Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the brain that alsocause hydrocephalus (water on the brain). Treatment for BHDS may involve surgical removal of the cyst causing the condition or using a shunt to drain excess water on the brain.	GARD:0009731|MESH:C536241	mondo.json	BHDS|bobble head doll syndrome	http://purl.obolibrary.org/obo/MONDO_0022011	http://identifiers.org/mesh/C536241	gard_rare
MONDO:0024673	biolink:Disease	skin lymphangioma	A lymphangioma arising from the skin.	UMLS:C1333176|NCIT:C27509	mondo.json	skin lymphangioma|cutaneous lymphangioma	http://purl.obolibrary.org/obo/MONDO_0024673	NCIT:C27509|UMLS:C1333176	
MONDO:0022013	biolink:Disease	Boerhaave syndrome	A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part.	GARD:0009261|SCTID:19995004|MESH:C536571|UMLS:C0238115	mondo.json	Boerhaave syndrome|boerhaave's syndrome|spontaneous rupture of the esophagus|Boerhave syndrome|spontaneous perforation of esophagus|spontaneous esophageal perforation|Boerhaave's syndrome|spontaneous rupture of esophagus|spontaneous perforation of the esophagus	http://purl.obolibrary.org/obo/MONDO_0022013	http://identifiers.org/mesh/C536571|http://identifiers.org/snomedct/19995004|UMLS:C0238115	gard_rare
MONDO:0024676	biolink:Disease	childhood kidney Wilms tumor	A Wilms tumor of the kidney which occurs in children.	NCIT:C27730|UMLS:C1333015	mondo.json	childhood Wilms tumor|childhood kidney Wilms tumor|Wilms tumor|kidney Wilms tumor|childhood renal Wilms tumor|childhood renal Wilms' tumor	http://purl.obolibrary.org/obo/MONDO_0024676	NCIT:C27730|UMLS:C1333015	
MONDO:0024675	biolink:Disease	adult kidney Wilms tumor	Wilms tumor of the kidney which occurs in adults.	UMLS:C1332219|NCIT:C6180	mondo.json	adult nephroblastoma|adenosarcoma of adult kidney|adenosarcoma of the adult kidney|adult renal Wilms' tumor|kidney Wilms tumor of adults|adult renal adenosarcoma|adult kidney Wilms tumor|adult renal Wilms tumor|adult kidney adenosarcoma	http://purl.obolibrary.org/obo/MONDO_0024675	UMLS:C1332219|NCIT:C6180	
HP:0011442	biolink:PhenotypicFeature	Abnormal central motor function	An anomaly of the control or production of movement in the central nervous system.	UMLS:C4023354	mondo.json	Abnormality of central motor function	http://purl.obolibrary.org/obo/HP_0011442		
HP:0011443	biolink:PhenotypicFeature	Abnormality of coordination		UMLS:C4023353	mondo.json	Coordination issue|Abnormality of coordination	http://purl.obolibrary.org/obo/HP_0011443		
MONDO:0024677	biolink:Disease	pancreatic insulinoma	An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin.	MedDRA:10022498|SCTID:302822000|DOID:3892|NCIT:C95598|EFO:0000549|GARD:0003010|MESH:D007340|HP:0012197	mondo.json	beta-cell adenoma|Insulomas|beta-cell tumors|adenoma, beta-cell|insulinoma tumor suppressor GENE locus|beta cell tumor|adenomas, beta-cell|insulinoma|insuloma|beta-cell tumor|beta-cell adenomas|tumor, beta-cell|islet cell adenoma|Insulinomas|pancreatic insulinoma|tumors, beta-cell|adenoma, beta cell	http://purl.obolibrary.org/obo/MONDO_0024677	http://identifiers.org/snomedct/302822000|http://identifiers.org/mesh/D007340|DOID:3892|NCIT:C95598	ordo_disease|gard_rare
MONDO:0022018	biolink:Disease	obsolete Borrone di Rocco Crovato syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022018		
HP:0011446	biolink:PhenotypicFeature	Abnormality of higher mental function	Cognitive, psychiatric or memory anomaly.	UMLS:C4023352	mondo.json		http://purl.obolibrary.org/obo/HP_0011446		
MONDO:0010029	biolink:Disease	situs inversus	A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning).	ICD9:759.89|ICD9:759.3|DOID:758|MESH:D012857|ICD10CM:Q89.3|OMIM:270100|SCTID:24614000|GARD:0004883|HP:0001696|NCIT:C87121|Orphanet:101063	mondo.json	SIV|laterality sequence|situs inversus totalis (disease)|complete situs inversus|situs inversus viscerum|heterotaxy, visceral, 5|complete situs inversus viscerum|situs inversus totalis|situs inversus|complete transposition (morphologic abnormality)|heterotaxy, visceral, 5, autosomal|situs ambiguus|HTX5	http://purl.obolibrary.org/obo/MONDO_0010029	http://purl.bioontology.org/ontology/ICD10CM/Q89.3|http://identifiers.org/snomedct/24614000|https://omim.org/entry/270100|DOID:758|NCIT:C87121|http://identifiers.org/mesh/D012857|Orphanet:101063	ordo_morphological_anomaly
MONDO:0009059	biolink:Disease	cysteine Peptiduria		OMIM:219550|MESH:C565659|UMLS:C1857438	mondo.json	cysteine Peptiduria	http://purl.obolibrary.org/obo/MONDO_0009059	UMLS:C1857438|http://identifiers.org/mesh/C565659|https://omim.org/entry/219550	
MONDO:0009058	biolink:Disease	cystathioninuria	Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases.	NCIT:C129070|HP:0003153|UMLS:C3495552|GARD:0002428|GARD:2428|UMLS:C0220993|OMIM:219500|DOID:0090142|SCTID:13003007|UMLS:C0268616|Orphanet:212	mondo.json	cystathionase deficiency|gamma-cystathionase deficiency|Cystathione gamma-lyase deficiency syndrome|cystathioninuria|cystathione gamma-lyase deficiency syndrome|cystathioninuria (disease)	http://purl.obolibrary.org/obo/MONDO_0009058	UMLS:C0220993|UMLS:C0268616|NCIT:C129070|UMLS:C3495552|Orphanet:212|http://identifiers.org/snomedct/13003007|DOID:0090142|https://omim.org/entry/219500	mostly_harmless|ordo_disease
MONDO:0009057	biolink:Disease	cyanosis and hepatic disease		UMLS:C1857443|MESH:C565660|OMIM:219400	mondo.json	cyanosis and hepatic disease	http://purl.obolibrary.org/obo/MONDO_0009057	UMLS:C1857443|http://identifiers.org/mesh/C565660|https://omim.org/entry/219400	
MONDO:0009056	biolink:Disease	cutis verticis gyrata and intellectual disability		Orphanet:1557|OMIM:219300|UMLS:C1857444	mondo.json	cutis verticis gyrata-intellectual disability syndrome|CVG/MR|cutis verticis gyrata and intellectual disability|cutis verticis gyrata and mental retardation	http://purl.obolibrary.org/obo/MONDO_0009056	UMLS:C1857444|Orphanet:1557|https://omim.org/entry/219300	
MONDO:0009055	biolink:Disease	cutis marmorata telangiectatica congenita	Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.	Orphanet:1556|OMIM:219250|MESH:C536226|GARD:0006228|HP:0025107|ICD9:757.8|SCTID:254778000	mondo.json	CMTC|Van Lohuizen syndrome|cutis marmorata telangiectatica congenita (disease)|cutis marmorata telangiectatica congenita|hereditary cutis marmorata telangiectatica congenita	http://purl.obolibrary.org/obo/MONDO_0009055	Orphanet:1556|http://identifiers.org/mesh/C536226|https://omim.org/entry/219250|http://identifiers.org/snomedct/254778000	ordo_malformation_syndrome
MONDO:0010033	biolink:Disease	generalized peeling skin syndrome	Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy.	Orphanet:263543|UMLS:C4305156|GARD:0012862|SCTID:718749004|UMLS:CN202304	mondo.json	PSS1|peeling skin syndrome 1|generalized PSS|generalized deciduous skin|peeling skin syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0010033	http://identifiers.org/snomedct/718749004|Orphanet:263543|UMLS:CN202304|UMLS:C4305156	ordo_disease
HGNC:11896	biolink:NamedThing	TNFAIP3			mondo.json		http://identifiers.org/hgnc/11896		
MONDO:0012696	biolink:Disease	otosclerosis 4		OMIM:611571|MESH:C566914|UMLS:C1969046	mondo.json	otosclerosis 4|OTSC4	http://purl.obolibrary.org/obo/MONDO_0012696	http://identifiers.org/mesh/C566914|UMLS:C1969046|https://omim.org/entry/611571	
MONDO:0012697	biolink:Disease	otosclerosis 7		UMLS:C1969044|OMIM:611572|MESH:C566913	mondo.json	otosclerosis 7|OTSC7	http://purl.obolibrary.org/obo/MONDO_0012697	http://identifiers.org/mesh/C566913|UMLS:C1969044|https://omim.org/entry/611572	
MONDO:0010032	biolink:Disease	Sjogren-Larsson-like ichthyosis without CNS or eye involvement		MESH:C536668|GARD:0004885|OMIM:270220|UMLS:C1849195	mondo.json	Sjogren-Larsson-like syndrome|Sjogren-Larsson-like ichthyosis without CNS or eye involvement|ichthyosis, Sjogren-Larsson-like, without CNS or eye involvement	http://purl.obolibrary.org/obo/MONDO_0010032	https://omim.org/entry/270220|http://identifiers.org/mesh/C536668|UMLS:C1849195	
MONDO:0009054	biolink:Disease	autosomal recessive cutis laxa type 2, classic type		UMLS:CN204606|MESH:C562632|DOID:0070136|OMIM:614434|DOID:0070141|SCTID:73856006|Orphanet:357074	mondo.json	ARCL2, classic type|ARCL2, Debré type|Arcl2|ARCL2, debre type|autosomal recessive cutis laxa type II classic type|autosomal recessive cutis laxa type 2, Debre type|ARCL2A|ARCL2, Debre type|autosomal recessive cutis laxa type 2, Debré type|ADCL2	http://purl.obolibrary.org/obo/MONDO_0009054	Orphanet:357074|http://identifiers.org/snomedct/73856006|http://identifiers.org/mesh/C562632|DOID:0070136|UMLS:CN204606	ordo_clinical_subtype
MONDO:0012694	biolink:Disease	Joubert syndrome 7	Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.	UMLS:C1969053|MESH:C566916|OMIM:611560|DOID:0111002|Orphanet:220497	mondo.json	Joubert syndrome 7|RPGRIP1L Joubert syndrome|Joubert syndrome type 7|JBTS7|Joubert syndrome caused by mutation in RPGRIP1L	http://purl.obolibrary.org/obo/MONDO_0012694	DOID:0111002|http://identifiers.org/mesh/C566916|UMLS:C1969053|https://omim.org/entry/611560	
MONDO:0010035	biolink:Disease	Smith-Lemli-Opitz syndrome	Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.	DOID:14692|OMIM:270400|SCTID:43929004|ICD10CM:E78.72|MESH:D019082|GARD:0005683|NCIT:C85071|UMLS:C0175694|ICD9:759.89|Orphanet:818	mondo.json	polydactyly, sex reversal, renal hypoplasia, and unilobular lung|Smith Lemli Opitz syndrome|lethal acrodysgenital syndrome|7-dehydrocholesterol reductase deficiency|Rutledge lethal multiple congenital anomaly syndrome|SLO syndrome|RSH syndrome|SLOS|polydactyly, sex reversal, renal hypoplasia, and unilobar lung|Smith-Opitz-inborn syndrome|Smith-Lemli-Opitz syndrome	http://purl.obolibrary.org/obo/MONDO_0010035	UMLS:C0175694|https://omim.org/entry/270400|http://identifiers.org/mesh/D019082|DOID:14692|Orphanet:818|NCIT:C85071|http://purl.bioontology.org/ontology/ICD10CM/E78.72|http://identifiers.org/snomedct/43929004	ordo_malformation_syndrome|gard_rare
MONDO:0009053	biolink:Disease	ALDH18A1-related de Barsy syndrome	ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.	OMIM:219150|SCTID:59252009|Orphanet:35664|ICD9:371.89|DOID:0070132	mondo.json	progeroid syndrome of De Barsy|ARCL3A|neurocutaneous syndrome, Bicknell type|cutis laxa, autosomal recessive, type IIIA|Delta-1-pyrroline 5-carboxylate synthetase deficiency|P5CS deficiency|De Barsy syndrome a|autosomal recessive cutis laxa type IIIA|cutis laxa, autosomal recessive, type 3A|cutis laxa, corneal clouding, and mental retardation|cutis laxa, corneal clouding, and intellectual disability|De Barsy syndrome A	http://purl.obolibrary.org/obo/MONDO_0009053	https://omim.org/entry/219150|http://identifiers.org/snomedct/59252009|Orphanet:35664|DOID:0070132	ordo_etiological_subtype
MONDO:0009052	biolink:Disease	cutis laxa, autosomal recessive, type 1A	An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.	DOID:0070135|OMIM:219100|UMLS:CN033664|MESH:C562628|SCTID:59451000	mondo.json	ARCL1|ARCL1A|cutis laxa, autosomal recessive|cutis laxa, autosomal recessive, type IA|autosomal recessive cutis laxa type IA	http://purl.obolibrary.org/obo/MONDO_0009052	UMLS:CN033664|http://identifiers.org/snomedct/59451000|https://omim.org/entry/219100|http://identifiers.org/mesh/C562628|DOID:0070135	
MONDO:0012695	biolink:Disease	Meckel syndrome, type 5	Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.	UMLS:C1969052|MESH:C566915|OMIM:611561|DOID:0070119	mondo.json	RPGRIP1L Meckel syndrome|Meckel syndrome 5|Meckel-Gruber syndrome, type 5|MKS5|Meckel syndrome caused by mutation in RPGRIP1L|Meckel syndrome, type 5	http://purl.obolibrary.org/obo/MONDO_0012695	http://identifiers.org/mesh/C566915|UMLS:C1969052|DOID:0070119|https://omim.org/entry/611561	
MONDO:0010034	biolink:Disease	obsolete anosmia for butyl mercaptan		OMIM:270350	mondo.json	skunk N-BUTYLMERCAPTAN, inability to smell|skunk N-butyl mercaptan, inability to smell	http://purl.obolibrary.org/obo/MONDO_0010034	https://omim.org/entry/270350	
MONDO:0009051	biolink:Disease	cutaneous photosensitivity-lethal colitis syndrome	Cutaneous photosensitivity and lethal colitisis is a rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.	OMIM:219095|Orphanet:2881|GARD:0001633|UMLS:C1857449|MESH:C536224	mondo.json	early cutaneous photosensitivity and severe colitis|cutaneous photosensitivity and colitis, lethal	http://purl.obolibrary.org/obo/MONDO_0009051	UMLS:C1857449|Orphanet:2881|http://identifiers.org/mesh/C536224|https://omim.org/entry/219095	ordo_disease
MONDO:0010037	biolink:Disease	sodium-potassium-ATPase activity of red cell		OMIM:270425	mondo.json	sodium pump sites, number of|sodium-potassium-ATPase activity of red cell	http://purl.obolibrary.org/obo/MONDO_0010037	https://omim.org/entry/270425	
MONDO:0010036	biolink:Disease	congenital secretory sodium diarrhea 3	Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene.	DOID:0060781|OMIM:270420	mondo.json	congenital secretory sodium diarrhea 3 with or without other congenital anomalies|SPINT2 secretory diarrhea|diarrhea 3, secretory sodium, congenital, syndromic|DIAR3|congenital secretory sodium diarrhea 3 syndromic|congenital secretory sodium diarrhea type 3|secretory diarrhea caused by mutation in SPINT2|diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies|sodium diarrhea, congenital	http://purl.obolibrary.org/obo/MONDO_0010036	https://omim.org/entry/270420|DOID:0060781	
MONDO:0009050	biolink:Disease	Cushing disease due to pituitary adenoma	Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland.	Orphanet:96253|GARD:0012867|NCIT:C113210|ICD10CM:E24.0|ICD10CM:D35.2|UMLS:C1306214|MESH:D047748|OMIM:219090|UMLS:C0221406|DOID:7004|SCTID:254958004|NCIT:C7462|MESH:D049913|MedDRA:10035109	mondo.json	pituitary-dependent Cushing syndrome|corticotroph adenoma|ACTH-secreting pituitary adenoma|pituitary corticotroph micro-adenoma|corticotroph pituitary adenoma|Corticotropinoma|PITA4|pituitary dependent Cushing syndrome|pituitary adenoma 4, ACTH-secreting, somatic|pituitary adenoma 4, ACTH-secreting|Cushing disease|ACTH producing pituitary adenoma|Cushing's disease|pituitary adenoma, ACTH-secreting|Cushing disease, pituitary	http://purl.obolibrary.org/obo/MONDO_0009050	https://omim.org/entry/219090|Orphanet:96253|http://identifiers.org/mesh/D049913|UMLS:C0221406|NCIT:C113210|UMLS:C1306214|http://identifiers.org/snomedct/254958004|DOID:7004	gard_rare|ordo_disease
MONDO:0012698	biolink:Disease	Waardenburg syndrome type 2E	Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene.	OMIM:611584|DOID:0110956|UMLS:C2700405	mondo.json	Waardenburg syndrome, type 2E|WS2E with or without neurological involvement|SOX10 Waardenburg syndrome type 2|hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation|hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation|Waardenburg syndrome type 2 caused by mutation in SOX10|Ws2E, with or without neurologic involvement|WS2E|Waardenburg syndrome type 2E with or without neurologic involvement|Waardenburg syndrome, type 2E, with or without neurologic involvement|Waardenburg syndrome type IIE	http://purl.obolibrary.org/obo/MONDO_0012698	UMLS:C2700405|DOID:0110956|https://omim.org/entry/611584	
MONDO:0010039	biolink:Disease	congenital heart defect-round face-developmental delay syndrome	Heart defect B round face B congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.	OMIM:270460|Orphanet:1355|SCTID:715987000|UMLS:C0796162|MESH:C536680|GARD:0004905	mondo.json	round face with depressed nasal Bridge and small mouth, congenital heart defect, and retarded development|Sonoda syndrome	http://purl.obolibrary.org/obo/MONDO_0010039	Orphanet:1355|https://omim.org/entry/270460|http://identifiers.org/mesh/C536680|http://identifiers.org/snomedct/715987000|UMLS:C0796162	ordo_malformation_syndrome
MONDO:0012699	biolink:Disease	autosomal recessive limb-girdle muscular dystrophy type 2M	A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.	Orphanet:206554|OMIM:611588|UMLS:C1969040|GARD:0012538|MESH:C566912|DOID:0110296	mondo.json	FKTN autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4|autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN|muscular dystrophy, limb-girdle, type 2M|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4|LGMD-FKTN related|limb-girdle muscular dystrophy type 2M|MDDGC4|LGMD2M	http://purl.obolibrary.org/obo/MONDO_0012699	http://identifiers.org/mesh/C566912|UMLS:C1969040|DOID:0110296|Orphanet:206554|https://omim.org/entry/611588	ordo_disease
MONDO:0010038	biolink:Disease	growth delay due to insulin-like growth factor I resistance	Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).	UMLS:C1849157|Orphanet:73273|MESH:C564816|GARD:0010609|SCTID:715625007|OMIM:270450	mondo.json	insulin-like growth factor I, resistance to|Somatomedin-C, resistance to|resistance to IGF-1|insulin-like growth factor 1 resistance to|Somatomedin, end-organ insensitivity to|growth delay due to insulin-like growth factor I resistance|Somatomedin-c resistance to|insulin-like Growth Factor I, resistance to, due to increased binding Protein|IGF1RES|IGF-1 resistance|Somatomedin end-organ insensitivity to|IGF-I resistance	http://purl.obolibrary.org/obo/MONDO_0010038	Orphanet:73273|https://omim.org/entry/270450|UMLS:C1849157|http://identifiers.org/mesh/C564816|http://identifiers.org/snomedct/715625007	gard_rare|ordo_disease
MONDO:0012692	biolink:Disease	renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies		UMLS:C1969055|MESH:C566918|OMIM:611555	mondo.json	renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies|renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies	http://purl.obolibrary.org/obo/MONDO_0012692	http://identifiers.org/mesh/C566918|UMLS:C1969055|https://omim.org/entry/611555	
HGNC:11892	biolink:NamedThing	TNF			mondo.json		http://identifiers.org/hgnc/11892		
MONDO:0012693	biolink:Disease	glycogen storage disease due to muscle and heart glycogen synthase deficiency	A glycogen storage disease characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.	GARD:0010760|UMLS:C1969054|MESH:C566917|Orphanet:137625|SCTID:725027004|OMIM:611556	mondo.json	glycogen storage disease type 0, muscle|glycogenosis type 0b|GSD 0B|GSD due to muscle and heart glycogen synthase deficiency|glycogen storage disease 0, muscle|heart glycogen storage disease due to glycogen synthase deficiency|glycogen storage disease due to glycogen synthase deficiency of heart|muscle glycogen storage disease 0|GSD type 0b|glycogen storage disease type 0b|glycogenosis due to muscle and heart glycogen synthase deficiency|muscle glycogen synthase deficiency|GSD0B	http://purl.obolibrary.org/obo/MONDO_0012693	http://identifiers.org/mesh/C566917|UMLS:C1969054|http://identifiers.org/snomedct/725027004|https://omim.org/entry/611556|Orphanet:137625	ordo_disease
MONDO:0012690	biolink:Disease	Noonan syndrome 5	Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene.	DOID:0060583|GARD:0010700|MESH:C548083|UMLS:C1969057|OMIM:611553	mondo.json	Noonan syndrome caused by mutation in RAF1|RAF1 gene related Noonan syndrome|RAF1 Noonan syndrome|Noonan syndrome type 5|NS5|Noonan syndrome 5	http://purl.obolibrary.org/obo/MONDO_0012690	UMLS:C1969057|DOID:0060583|https://omim.org/entry/611553|http://identifiers.org/mesh/C548083	gard_rare
MONDO:0010031	biolink:Disease	Sjogren-Larsson syndrome	A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.	SCTID:111303009|MedDRA:10048676|NCIT:C85070|GARD:0007654|MESH:D016111|UMLS:C0037231|DOID:14501|OMIM:270200|EFO:0007031|Orphanet:816	mondo.json	FAO deficiency|FALDH deficiency|SLS|Sjogren-Larsson's syndrome|fatty alcohol:NAD+ oxidoreductase deficiency|Sjögren-Larsson syndrome|Sjogren Larsson syndrome|fatty acid alcohol oxidoreductase deficiency|FADH deficiency|fatty aldehyde dehydrogenase deficiency|ichthyosis, spastic neurologic disorder, and oligophrenia|Sjogren-Larsson syndrome	http://purl.obolibrary.org/obo/MONDO_0010031	https://omim.org/entry/270200|UMLS:C0037231|Orphanet:816|DOID:14501|http://identifiers.org/snomedct/111303009|NCIT:C85070|http://identifiers.org/mesh/D016111	ordo_disease|gard_rare
MONDO:0012691	biolink:Disease	LEOPARD syndrome 2	Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene.	OMIM:611554|UMLS:C1969056|MESH:C537117|DOID:0080549	mondo.json	leopard syndrome 2|LEOPARD syndrome 2|LPRD2|Leopard syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0012691	UMLS:C1969056|https://omim.org/entry/611554|http://identifiers.org/mesh/C537117|DOID:0080549	
MONDO:0010030	biolink:Disease	Sjogren syndrome	An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain	MESH:D012859|GARD:0010252|ICD9:710.2|SCTID:83901003|OMIM:270150|EFO:0000699|Orphanet:289390|NCIT:C26883|Orphanet:378|DOID:12894	mondo.json	primary Sjögren syndrome|syndrome, Sjogren's|primary Sjogren-Gougerot syndrome|xerodermosteosis|Sjögren-Gougerot syndrome|Sjögren syndrome|Sjogren's syndrome|Sjogren syndrome|primary Sjögren-Gougerot syndrome|sicca syndrome	http://purl.obolibrary.org/obo/MONDO_0010030	https://omim.org/entry/270150|Orphanet:378|http://identifiers.org/mesh/D012859|Orphanet:289390|DOID:12894|NCIT:C26883|http://identifiers.org/snomedct/83901003	ordo_disease
MONDO:0024663	biolink:Disease	primary skin meningioma		NCIT:C5277	mondo.json	primary cutaneous meningioma|primary skin meningioma|primary meningioma of skin|primary meningioma of the skin	http://purl.obolibrary.org/obo/MONDO_0024663	NCIT:C5277	
MONDO:0000696	biolink:Disease	obsolete juvenile absence epilepsy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000696		
MONDO:0024662	biolink:Disease	colorectal tubulovillous adenoma	A neoplasm that arises from the glandular epithelium of the colonic and rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features.	NCIT:C5675|UMLS:C1333118	mondo.json	tubulovillous adenoma of the large bowel|tubulovillous adenoma of large bowel|colorectal tubulovillous adenoma|large bowel tubulovillous adenoma	http://purl.obolibrary.org/obo/MONDO_0024662	NCIT:C5675|UMLS:C1333118	
MONDO:0000695	biolink:Disease	obsolete histidinemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000695		
MONDO:0024665	biolink:Disease	indeterminate sex and/or pseudohermaphroditism		ICD10CM:Q56|ICD9:752.7|SCTID:268229003	mondo.json	gynandrism	http://purl.obolibrary.org/obo/MONDO_0024665	http://identifiers.org/snomedct/268229003|http://purl.bioontology.org/ontology/ICD10CM/Q56	
MONDO:0000694	biolink:Disease	seasonal affective disorder	A syndrome characterized by depressions that recur annually at the same time each year, usually during the winter months. Other symptoms include anxiety, irritability, decreased energy, increased appetite (carbohydrate cravings), increased duration of sleep, and weight gain. sad (seasonal affective disorder) can be treated by daily exposure to bright artificial lights (phototherapy), during the season of recurrence.	ICD9:296.99|MESH:D016574|DOID:0060167|SCTID:247803002	mondo.json	winter depression|seasonal affective disorder|sad|SADS	http://purl.obolibrary.org/obo/MONDO_0000694	http://identifiers.org/snomedct/247803002|DOID:0060167|http://identifiers.org/mesh/D016574	
MONDO:0024664	biolink:Disease	hypertension, pregnancy-induced	A hypertensive disorder that develops during pregnancy.	MESH:D046110|SCTID:48194001|NCIT:C9243	mondo.json	hypertension associated disorders of pregnancy|hypertensions, pregnancy induced|hypertension, gestational|gestational hypertension|hypertension induced by pregnancy|hypertension complicating pregnancy|induced Hypertensions, pregnancy|hypertension-associated pregnancy disorder|pregnancy-induced hypertension|pregnancy transient hypertension|induced hypertension, pregnancy|hypertension, pregnancy induced|pregnancy induced hypertension|hypertension, pregnancy transient|transient hypertension, pregnancy	http://purl.obolibrary.org/obo/MONDO_0024664	NCIT:C9243|http://identifiers.org/snomedct/48194001|http://identifiers.org/mesh/D046110	
MONDO:0000693	biolink:Disease	bipolar II disorder	A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes.	ICD9:296.89|SCTID:83225003|DOID:0060166	mondo.json	bipolar 2 disorder|bipolar ll disorder|bipolar II disorder	http://purl.obolibrary.org/obo/MONDO_0000693	http://identifiers.org/snomedct/83225003|DOID:0060166	
HGNC:23845	biolink:NamedThing	SLX4			mondo.json		http://identifiers.org/hgnc/23845		
MONDO:0024666	biolink:Disease	benign epithelial skin neoplasm	A form of epithelial skin neoplasm without malignant characteristics.	UMLS:C0345981|NCIT:C7341	mondo.json	epithelial skin neoplasm, benign|benign epithelial skin neoplasm|benign skin epithelium tumor|benign skin epithelium neoplasm|benign epithelial skin tumor	http://purl.obolibrary.org/obo/MONDO_0024666	UMLS:C0345981|NCIT:C7341	
MONDO:0000699	biolink:Disease	obsolete homocarnosinosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000699		
MONDO:0000698	biolink:Disease	gamma-amino butyric acid metabolism disorder	An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.	DOID:0060176	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000698	DOID:0060176	
MONDO:0022007	biolink:Disease	water intoxication	A condition resulting from the excessive retention of water with sodium depletion.	UMLS:C0043049|SCTID:71785001|MESH:D014869	mondo.json	water intoxication syndrome|Water intoxication syndrome|WATER INTOX|Water intoxication|Water Intoxication	http://purl.obolibrary.org/obo/MONDO_0022007	http://identifiers.org/snomedct/71785001|UMLS:C0043049|http://identifiers.org/mesh/D014869	
MONDO:0000697	biolink:Disease	obsolete succinic semialdehyde dehydrogenase deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000697		
MONDO:0010019	biolink:Disease	secretory component deficiency		UMLS:C0398709|SCTID:234554004|ICD9:279.03|OMIM:269650|MESH:C562869	mondo.json	IgA deficiency, secretory|secretory component deficiency	http://purl.obolibrary.org/obo/MONDO_0010019	http://identifiers.org/mesh/C562869|https://omim.org/entry/269650|http://identifiers.org/snomedct/234554004|UMLS:C0398709	
MONDO:0009029	biolink:Disease	cranial nerves, congenital paresis of		MESH:C565673|OMIM:218100|UMLS:C1857531	mondo.json	cranial nerves, congenital paresis of	http://purl.obolibrary.org/obo/MONDO_0009029	http://identifiers.org/mesh/C565673|https://omim.org/entry/218100|UMLS:C1857531	
MONDO:0010018	biolink:Disease	second metatarsal-metacarpal syndrome		MESH:C564824|UMLS:C1849259|OMIM:269630	mondo.json	second metatarsal-metacarpal syndrome	http://purl.obolibrary.org/obo/MONDO_0010018	https://omim.org/entry/269630|http://identifiers.org/mesh/C564824|UMLS:C1849259	
MONDO:0009028	biolink:Disease	Crane-Heise syndrome	A very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.	GARD:0008428|SCTID:715991005|Orphanet:1512|MESH:C536452|OMIM:218090|UMLS:C1857532	mondo.json	cleft Lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus|Crane-Heise syndrome	http://purl.obolibrary.org/obo/MONDO_0009028	https://omim.org/entry/218090|http://identifiers.org/snomedct/715991005|UMLS:C1857532|Orphanet:1512|http://identifiers.org/mesh/C536452	ordo_malformation_syndrome|gard_rare
MONDO:0009027	biolink:Disease	cramps, familial adolescent		OMIM:218050	mondo.json	cramps, familial adolescent	http://purl.obolibrary.org/obo/MONDO_0009027	https://omim.org/entry/218050	
MONDO:0009026	biolink:Disease	Costello syndrome	Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.	NCIT:C84652|GARD:0001550|OMIM:218040|Orphanet:3071|MESH:D056685|ICD9:799.89|MedDRA:10067380|UMLS:C0587248|SCTID:309776008|DOID:0050469	mondo.json	Costello syndrome|congenital myopathy with excess of muscle spindles|FCS syndrome|CSTLO|faciocutaneoskeletal syndrome|myopathy, congenital, with excess of muscle spindles	http://purl.obolibrary.org/obo/MONDO_0009026	https://omim.org/entry/218040|UMLS:C0587248|NCIT:C84652|Orphanet:3071|http://identifiers.org/mesh/D056685|DOID:0050469|http://identifiers.org/snomedct/309776008	ordo_malformation_syndrome|gard_rare|clingen
MONDO:0000692	biolink:Disease	obsolete Kleine-Levin syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000692		
CHR:9606-chr20q13.33	biolink:NamedThing	20q13.33 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr20q13.33		
MONDO:0009025	biolink:Disease	apparent mineralocorticoid excess	Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.	SCTID:703256004|UMLS:C2936861|OMIM:218030|UMLS:C0342488|NCIT:C123231|MESH:D043204|ICD9:255.3|DOID:0090121|DOID:4367|GARD:0000433|SCTID:237770005|NCIT:C131083|EFO:1000817|Orphanet:320|MESH:C537422|UMLS:CN203981|UMLS:C3887949	mondo.json	cortisol 11-Beta-ketoreductase deficiency|Ulick syndrome|Ame1|cortisol 11-beta-ketoreductase deficiency|AME|apparent mineralocorticoid excess syndrome|APE|11 Beta-hydroxysteroid dehydrogenase type 2 deficiency|11-beta-hydroxysteroid dehydrogenase deficiency type 2|AME 1|syndrome of apparent mineralocorticoid Excess|apparent mineralocorticoid EXCESS|apparent mineralocorticoid excess	http://purl.obolibrary.org/obo/MONDO_0009025	http://identifiers.org/snomedct/703256004|NCIT:C123231|UMLS:CN203981|http://identifiers.org/mesh/D043204|http://identifiers.org/mesh/C537422|http://identifiers.org/snomedct/237770005|DOID:4367|Orphanet:320|NCIT:C131083|UMLS:C3887949|UMLS:C0342488|https://omim.org/entry/218030	ordo_disease|gard_rare
MONDO:0000691	biolink:Disease	obsolete pain disorder			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000691		
MONDO:0000690	biolink:Disease	body dysmorphic disorder	Preoccupations with appearance or self-image causing significant distress or impairment in important areas of functioning.	SCTID:83482000|DOID:0060163|ICD10CM:F45.22|MESH:D057215	mondo.json	body dysmorphia|dysmorphic syndrome|dysmorphophobia	http://purl.obolibrary.org/obo/MONDO_0000690	http://identifiers.org/snomedct/83482000|http://purl.bioontology.org/ontology/ICD10CM/F45.22|DOID:0060163|http://identifiers.org/mesh/D057215	
MONDO:0024661	biolink:Disease	tubulovillous adenoma	An epithelial neoplasm morphologically characterized by the presence of a villous and a tubular architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features.	UMLS:C0334307|NCIT:C4143|ICDO:8263/0	mondo.json	tubulovillous adenoma	http://purl.obolibrary.org/obo/MONDO_0024661	NCIT:C4143|UMLS:C0334307	
MONDO:0009024	biolink:Disease	cortical blindness-intellectual disability-polydactyly syndrome	This syndrome is characterised by cortical blindness, intellectual deficit, and polydactyly.	OMIM:218010|UMLS:C1857568|GARD:0001548|Orphanet:1389|MESH:C565674	mondo.json	cortical blindness, retardation, and postaxial polydactyly	http://purl.obolibrary.org/obo/MONDO_0009024	Orphanet:1389|UMLS:C1857568|http://identifiers.org/mesh/C565674|https://omim.org/entry/218010	gard_rare|ordo_malformation_syndrome
MONDO:0024660	biolink:Disease	tubular adenoma	A usually polypoid neoplasm arising from the glandular epithelium. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. Representative examples include the tubular adenomas of the colon and rectum.	UMLS:C0334292|NCIT:C4133|SCTID:444408007|ICDO:8211/0	mondo.json	tubular adenoma|adenoma, tubular cell, benign	http://purl.obolibrary.org/obo/MONDO_0024660	http://identifiers.org/snomedct/444408007|NCIT:C4133|UMLS:C0334292	
MONDO:0009023	biolink:Disease	obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009023		
MONDO:0012685	biolink:Disease	major affective disorder 5		OMIM:611535|MESH:C567074	mondo.json	major affective disorder 5|MAFD5|MAJOR affective disorder 5|bipolar affective disorder	http://purl.obolibrary.org/obo/MONDO_0012685	http://identifiers.org/mesh/C567074|https://omim.org/entry/611535	
MONDO:0010022	biolink:Disease	senile plaque formation		OMIM:269800	mondo.json	senile plaque formation	http://purl.obolibrary.org/obo/MONDO_0010022	https://omim.org/entry/269800	
MONDO:0009022	biolink:Disease	corpus callosum, agenesis of	A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment.	OMIM:217990|SCTID:5102002|MESH:D061085|GARD:0001535|NCIT:C98905	mondo.json	agenesis of the corpus callosum|ACC|isolated corpus callosum agenesis|corpus callosum agenesis|agenesis of corpus callosum|corpus callosum, agenesis of	http://purl.obolibrary.org/obo/MONDO_0009022	NCIT:C98905|http://identifiers.org/snomedct/5102002|https://omim.org/entry/217990|http://identifiers.org/mesh/D061085	
MONDO:0012686	biolink:Disease	major affective disorder 6		OMIM:611536|MESH:C567075	mondo.json	MAFD6|major affective disorder 6|MAJOR affective disorder 6|bipolar affective disorder	http://purl.obolibrary.org/obo/MONDO_0012686	https://omim.org/entry/611536|http://identifiers.org/mesh/C567075	
MONDO:0009021	biolink:Disease	Toriello-Carey syndrome	Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.	SCTID:722477003|MESH:C563127|Orphanet:3338|UMLS:C0796184|GARD:0005225|OMIM:217980	mondo.json	corpus callosum agenesis facial anomalies Robin sequence|corpus callosum agenesis-blepharophimosis-Robin sequence syndrome|corpus callosum, agenesis of, with facial anomalies and ROBIN sequence|agenesis of corpus callosum with facial anomalies and Robin sequence|Toriello-Carey syndrome	http://purl.obolibrary.org/obo/MONDO_0009021	https://omim.org/entry/217980|Orphanet:3338|UMLS:C0796184|http://identifiers.org/snomedct/722477003|http://identifiers.org/mesh/C563127	ordo_malformation_syndrome|gard_rare
MONDO:0010021	biolink:Disease	seizures, benign familial neonatal, autosomal recessive		OMIM:269720|UMLS:C1849250|GARD:0001519|MESH:C564823	mondo.json	convulsions, benign familial neonatal, autosomal recessive|convulsions benign familial neonatal dominant form|seizures, benign familial neonatal, autosomal recessive|Bfns, autosomal recessive|autosomal dominant form of benign neonatal seizures|epilepsy, benign familial neonatal, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0010021	https://omim.org/entry/269720|http://identifiers.org/mesh/C564823|UMLS:C1849250	
MONDO:0010024	biolink:Disease	Beemer-Langer syndrome	Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.	OMIM:269860|GARD:0004832|ICD9:756.9|MESH:C537599|DOID:9249|UMLS:C0432198|Orphanet:93268|SCTID:254052001	mondo.json	short rib-polydactyly syndrome Beemer type|short rib-polydactyly syndrome, type 4|short rib polydactyly syndrome Beemer-Langer type|SRPS type 4|short rib-polydactyly syndrome, Beemer-Langer type|Srps 4|short rib-polydactyly syndrome type 4|Beemer-Langer syndrome|short rib syndrome, Beemer type|type IV short rib polydactyly syndrome|SRTD12|short-rib thoracic dysplasia 12|Beemer Langer syndrome|short rib-polydactyly syndrome type IV	http://purl.obolibrary.org/obo/MONDO_0010024	http://identifiers.org/snomedct/254052001|https://omim.org/entry/269860|http://identifiers.org/mesh/C537599|UMLS:C0432198|DOID:9249|Orphanet:93268	ordo_malformation_syndrome
MONDO:0009020	biolink:Disease	macular corneal dystrophy	Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.	NCIT:C34793|ICD10CM:H18.55|MedDRA:10025406|OMIM:217800|MESH:C537834|SCTID:60258001|DOID:2565|ICD9:371.55|UMLS:C0024439|GARD:0006953|Orphanet:98969	mondo.json	macular dystrophy, corneal, 1|Groenouw type II corneal dystrophy|macular corneal dystrophy type 1|Fehr corneal dystrophy|macular dystrophy, corneal type 1|Mcdc1, formerly|Groenouw type 2 corneal dystrophy|corneal dystrophy, macular type|macular corneal dystrophy, type 2|macular corneal dystrophy, type 1|Mcdc1|MCD|macular dystrophy, corneal|macular corneal dystrophy|corneal dystrophy Groenouw type II	http://purl.obolibrary.org/obo/MONDO_0009020	https://omim.org/entry/217800|http://purl.bioontology.org/ontology/ICD10CM/H18.55|http://identifiers.org/snomedct/60258001|http://identifiers.org/mesh/C537834|Orphanet:98969|NCIT:C34793|UMLS:C0024439|DOID:2565	ordo_disease
MONDO:0012683	biolink:Disease	pontocerebellar hypoplasia type 6	Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.	OMIM:611523|DOID:0060275|UMLS:C1969084|SCTID:718606005|Orphanet:166073|GARD:0010710|MESH:C548074	mondo.json	encephalopathy, fatal infantile, with mitochondrial respiratory chain defects|RARS2 non-syndromic pontocerebellar hypoplasia|encephalopathy fatal infantile with mitochondrial respiratory chain defects|fatal infantile encephalopathy with mitochondrial respiratory chain defects|non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2|pontocerebellar hypoplasia type 6|pontocerebellar hypoplasia, type 6|PCH6	http://purl.obolibrary.org/obo/MONDO_0012683	http://identifiers.org/mesh/C548074|http://identifiers.org/snomedct/718606005|UMLS:C1969084|DOID:0060275|Orphanet:166073|https://omim.org/entry/611523	ordo_malformation_syndrome|gard_rare|clingen
MONDO:0010023	biolink:Disease	combined immunodeficiency due to ZAP70 deficiency	Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.	OMIM:269840|SCTID:716378008|MESH:C536722|GARD:0000387|Orphanet:911	mondo.json	immunodeficiency 48|selective T-cell defect|IMD48|severe combined immunodeficiency due to ZAP70 deficiency|zeta-associated-protein 70 deficiency|STCD|ZAP-70 deficiency	http://purl.obolibrary.org/obo/MONDO_0010023	http://identifiers.org/snomedct/716378008|https://omim.org/entry/269840|http://identifiers.org/mesh/C536722|Orphanet:911	ordo_disease
MONDO:0012684	biolink:Disease	arrhythmogenic right ventricular dysplasia 12	Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the JUP gene.	DOID:0110083|UMLS:C1969081|OMIM:611528|MESH:C566925	mondo.json	arrhythmogenic right ventricular dysplasia, familial, 12|ARVD12|ARVC12|arrhythmogenic right ventricular dysplasia 12|arrhythmogenic right ventricular dysplasia type 12|JUP familial isolated arrhythmogenic right ventricular dysplasia|arrhythmogenic right ventricular cardiomyopathy 12|familial arrhythmogenic right ventricular dysplasia 12|arrhythmogenic right ventricular dysplasia, familial, type 12|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in JUP	http://purl.obolibrary.org/obo/MONDO_0012684	DOID:0110083|http://identifiers.org/mesh/C566925|UMLS:C1969081|https://omim.org/entry/611528	
MONDO:0012689	biolink:Disease	premature ovarian failure 5	Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene.	OMIM:611548|MESH:C566921|UMLS:C1969060	mondo.json	NOBOX primary ovarian failure|primary ovarian failure caused by mutation in NOBOX|Pof5|premature ovarian failure 5|premature ovarian failure type 5	http://purl.obolibrary.org/obo/MONDO_0012689	https://omim.org/entry/611548|http://identifiers.org/mesh/C566921|UMLS:C1969060	
MONDO:0010026	biolink:Disease	SHORT syndrome	SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.	Orphanet:3163|UMLS:C0878684|MESH:C537327|OMIM:269880|GARD:0007633|DOID:0111454	mondo.json	Rieger anomaly-partial lipodystrophy syndrome|short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay|SHORT syndrome|lipodystrophy, partial, with Rieger anomaly and short stature|short syndrome|short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay|Aarskog-Ose-Pande syndrome|lipodystrophy-Rieger anomaly-diabetes syndrome|partial lipodystrophy with Rieger anomaly and short stature	http://purl.obolibrary.org/obo/MONDO_0010026	https://omim.org/entry/269880|http://identifiers.org/mesh/C537327|DOID:0111454|UMLS:C0878684|Orphanet:3163	ordo_malformation_syndrome
MONDO:0010025	biolink:Disease	short stature-obesity syndrome		MESH:C564821|UMLS:C1849235|OMIM:269870	mondo.json	SSOS|short stature-obesity syndrome	http://purl.obolibrary.org/obo/MONDO_0010025	https://omim.org/entry/269870|UMLS:C1849235|http://identifiers.org/mesh/C564821	
MONDO:0010028	biolink:Disease	sialuria	Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.	ICD9:796.4|DOID:3659|Orphanet:3166|GARD:0004865|OMIM:269921|SCTID:238051008|MedDRA:10067529	mondo.json	sialuria|sialuria, French type	http://purl.obolibrary.org/obo/MONDO_0010028	Orphanet:3166|https://omim.org/entry/269921|DOID:3659|http://identifiers.org/snomedct/238051008	ordo_disease
MONDO:0012687	biolink:Disease	familial cavitary optic disc anomaly		OMIM:611543|Orphanet:464760|UMLS:C1969063|MESH:C566924	mondo.json	CODA|familial CODA|cavitary optic DISC anomalies	http://purl.obolibrary.org/obo/MONDO_0012687	https://omim.org/entry/611543|http://identifiers.org/mesh/C566924|UMLS:C1969063|Orphanet:464760	ordo_morphological_anomaly
MONDO:0012688	biolink:Disease	cataract 17 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene.	MESH:C566923|DOID:0110270|Orphanet:98991|UMLS:C1969062|OMIM:611544	mondo.json	autosomal recessive congenital nuclear cataract 3|CTRCT17|cataract, congenital nuclear, autosomal recessive 3|early-onset non-syndromic cataract caused by mutation in CRYBB1|CRYBB1 early-onset non-syndromic cataract|cataract 17, multiple types|CATCN3|cataract 17, multiple types, with or without microcornea	http://purl.obolibrary.org/obo/MONDO_0012688	https://omim.org/entry/611544|http://identifiers.org/mesh/C566923|DOID:0110270|UMLS:C1969062	
MONDO:0010027	biolink:Disease	free sialic acid storage disease, infantile form		OMIM:269920|MedDRA:10067532|GARD:0000175|Orphanet:309324|SCTID:34566007	mondo.json	infantile free sialic acid storage disease|N-acetylneuraminic acid storage disease|infantile sialic acid storage disorder|infantile sialic acid storage disease|Nana storage disease|sialuria, infantile form|ISSD|sialic acid storage disorder, infantile	http://purl.obolibrary.org/obo/MONDO_0010027	https://omim.org/entry/269920|http://identifiers.org/snomedct/34566007|Orphanet:309324	gard_rare|ordo_clinical_subtype
MONDO:0024659	biolink:Disease	colorectal Kaposi sarcoma	A Kaposi sarcoma that arises from the colon or rectum.	NCIT:C96510|UMLS:C3272833	mondo.json	large intestinal Kaposi sarcoma|colorectal Kaposi sarcoma|large intestine Kaposi's sarcoma (disease)|Kaposi's sarcoma (disease) of large intestine	http://purl.obolibrary.org/obo/MONDO_0024659	NCIT:C96510|UMLS:C3272833	
HP:0410280	biolink:PhenotypicFeature	Pediatric onset	Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset.		mondo.json	Paediatric onset|Onset before adulthood	http://purl.obolibrary.org/obo/HP_0410280		
MONDO:0012681	biolink:Disease	febrile seizures, familial, 7		MESH:C566929|UMLS:C1969087|DOID:0111311|OMIM:611515	mondo.json	febrile convulsions, familial, 7|febrile seizures, familial, 7|FEB7	http://purl.obolibrary.org/obo/MONDO_0012681	DOID:0111311|http://identifiers.org/mesh/C566929|UMLS:C1969087|https://omim.org/entry/611515	
MONDO:0012682	biolink:Disease	immunodeficiency 35	Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene.	OMIM:611521|UMLS:C1969086|Orphanet:331226|MESH:C566928	mondo.json	immunodeficiency 35|hyper-IgE syndrome with atypical Mycobacteriosis, autosomal recessive|susceptibility to infection due to TYK2 deficiency|tyrosine kinase 2 deficiency|immunodeficiency type 35|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in TYK2|IMD35|HIES with atypical Mycobacteriosis, autosomal recessive|TYK2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency|TYK2 deficiency|autosomal recessive hyper-IgE syndrome due to TYK2 deficiency	http://purl.obolibrary.org/obo/MONDO_0012682	http://identifiers.org/mesh/C566928|Orphanet:331226|UMLS:C1969086|https://omim.org/entry/611521	predisposition|ordo_disease
MONDO:0010020	biolink:Disease	congenital generalized lipodystrophy type 2	Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene.	OMIM:269700|GARD:0010212|DOID:0111136	mondo.json	congenital generalized lipodystrophy (disease) caused by mutation in BSCL2|Berardinelli-Seip congenital lipodystrophy type 2|lipoatrophic diabetes, congenital|Berardinelli-Seip congenital lipodystrophy, type 2|lipodystrophy, congenital generalized, type 2|CGL2|lipodystrophy, total, and acromegaloid gigantism|congenital lipoatrophic diabetes|BSCL2 congenital generalized lipodystrophy (disease)|Berardinelli-Seip syndrome|Seip syndrome|BSCL2-related Brunzell syndrome|Berardinelli Seip congenital lipodystrophy type 2|Brunzell syndrome, BSCL2-related|Berardinelli syndrome|total lipodystrophy and acromegaloid gigantism|Brunzell syndrome BSCL2-related|lipodystrophy, Berardinelli-Seip congenital, type 2	http://purl.obolibrary.org/obo/MONDO_0010020	https://omim.org/entry/269700|DOID:0111136	gard_rare
MONDO:0012680	biolink:Disease	nephronophthisis 7	Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene.	MESH:C566930|OMIM:611498|DOID:0111116|UMLS:C1969092	mondo.json	nephronophthisis type 7|GLIS2 nephronophthisis (disease)|NPHP7|nephronophthisis (disease) caused by mutation in GLIS2|nephronophthisis 7	http://purl.obolibrary.org/obo/MONDO_0012680	DOID:0111116|http://identifiers.org/mesh/C566930|UMLS:C1969092|https://omim.org/entry/611498	
MONDO:0024652	biolink:Disease	embryonic cyst of fallopian tube		ICD10CM:Q50.4|SCTID:302954008	mondo.json	cyst of mesenteric remnant|embryonic cyst of fallopian tube	http://purl.obolibrary.org/obo/MONDO_0024652	http://purl.bioontology.org/ontology/ICD10CM/Q50.4|http://identifiers.org/snomedct/302954008	
MONDO:0024651	biolink:Disease	corticosteroid-induced osteoporosis		ICD9:733.09|UMLS:C1272167|SCTID:390833005	mondo.json	osteoporosis due to corticosteroid|osteoporosis caused by corticosteroid	http://purl.obolibrary.org/obo/MONDO_0024651	http://identifiers.org/snomedct/390833005|UMLS:C1272167	
MONDO:0024654	biolink:Disease	skull disorder	A non-neoplastic or neoplastic disorder that affects structures of the skull.	SCTID:118945008|NCIT:C27655|UMLS:C1290854	mondo.json	skull disease or disorder|skull disease|disease of skull|skull disorder|disorder of skull|disease or disorder of skull	http://purl.obolibrary.org/obo/MONDO_0024654	UMLS:C1290854|http://identifiers.org/snomedct/118945008|NCIT:C27655	
MONDO:0024653	biolink:Disease	skull neoplasm	A benign or malignant neoplasm that affects the bones and structures of the skull.	NCIT:C3375|SCTID:126538005|UMLS:C0037305|MESH:D012888|ICD9:239.2	mondo.json	skull neoplasm|neoplasm of skull|tumor of the skull|skull tumor|neoplasm of the skull|tumor of skull	http://purl.obolibrary.org/obo/MONDO_0024653	NCIT:C3375|UMLS:C0037305|http://identifiers.org/snomedct/126538005|http://identifiers.org/mesh/D012888	
HP:0011420	biolink:PhenotypicFeature	Age of death	The age group when the cessation of life happens.	UMLS:C1546180	mondo.json		http://purl.obolibrary.org/obo/HP_0011420		
MONDO:0024656	biolink:Disease	colorectal lymphoma	An extranodal lymphoma that arises from the colon or rectum. The majority are B-cell non-Hodgkin lymphomas.	NCIT:C96498|UMLS:C3272822	mondo.json	large intestine lymphoma|primary colorectal lymphoma|large intestinal lymphoma|colorectal lymphoma|lymphoma of large intestine	http://purl.obolibrary.org/obo/MONDO_0024656	NCIT:C96498|UMLS:C3272822	
MONDO:0024655	biolink:Disease	rheumatic pericarditis		SCTID:28381002|UMLS:C0264747	mondo.json	rheumatic pericarditis	http://purl.obolibrary.org/obo/MONDO_0024655	http://identifiers.org/snomedct/28381002|UMLS:C0264747	
MONDO:0024658	biolink:Disease	extrahepatic bile duct sarcoma	A malignant soft tissue neoplasm that arises from the extrahepatic bile ducts. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma.	NCIT:C5029|UMLS:C2205442	mondo.json	sarcoma of the extrahepatic bile duct|extrahepatic bile duct sarcoma|sarcoma of extrahepatic bile duct	http://purl.obolibrary.org/obo/MONDO_0024658	NCIT:C5029|UMLS:C2205442	
MONDO:0024657	biolink:Disease	obsolete macrocystic neurilemmoma		DOID:3203|NCIT:C5321|UMLS:C4054526	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024657	DOID:3203	
MONDO:0010008	biolink:Disease	sarcosinemia	Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency.	OMIM:268900|Orphanet:3129|SCTID:64852002|GARD:0000158|ICD9:270.8|UMLS:C0268563|MESH:C537236|MedDRA:10059299	mondo.json	SARD deficiency|sarcosinemia|sarcosine dehydrogenase complex deficiency|hypersarcosinemia|SARCOS|SARDH deficiency	http://purl.obolibrary.org/obo/MONDO_0010008	http://identifiers.org/snomedct/64852002|Orphanet:3129|UMLS:C0268563|http://identifiers.org/mesh/C537236|https://omim.org/entry/268900	ordo_disease|gard_rare
MONDO:0010007	biolink:Disease	microbrachycephaly-ptosis-cleft lip syndrome	Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.	UMLS:C0796142|OMIM:268850|Orphanet:2511|GARD:0003596	mondo.json	sao Paulo MCA/Mr syndrome|Richieri Costa-Guion Almeida-Ramos syndrome|short stature, mental retardation, eye anomalies, and cleft Lip/palate|short stature, intellectual disability, eye anomalies, and cleft Lip/palate|Richieri-COSTA/Guion-Almeida syndrome|microbrachycephaly ptosis cleft lip	http://purl.obolibrary.org/obo/MONDO_0010007	UMLS:C0796142|Orphanet:2511|https://omim.org/entry/268850	ordo_malformation_syndrome|gard_rare
MONDO:0009039	biolink:Disease	Baller-Gerold syndrome	Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).	Orphanet:1225|UMLS:C0265308|GARD:0001602|MESH:C536788|OMIM:218600|DOID:0050654|SCTID:77608001	mondo.json	craniosynostosis with radial defects|BALLER-Gerold syndrome|BGS|Baller-Gerold syndrome|craniosynostosis-radial aplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0009039	https://omim.org/entry/218600|http://identifiers.org/snomedct/77608001|Orphanet:1225|UMLS:C0265308|DOID:0050654|http://identifiers.org/mesh/C536788	gard_rare|ordo_malformation_syndrome
MONDO:0012669	biolink:Disease	Legius syndrome	Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling.	ICD9:709.09|GARD:0010714|MESH:C548032|UMLS:C1969623|Orphanet:137605|SCTID:703541007|OMIM:611431	mondo.json	neurofibromatosis type 1 like syndrome|Legius syndrome|neurofibromatosis type 1-like syndrome|neurofibromatosis 1-like syndrome|NF1-like syndrome	http://purl.obolibrary.org/obo/MONDO_0012669	https://omim.org/entry/611431|Orphanet:137605|http://identifiers.org/snomedct/703541007|http://identifiers.org/mesh/C548032|UMLS:C1969623	gard_rare|ordo_malformation_syndrome
MONDO:0009038	biolink:Disease	craniosynostosis-fibular aplasia syndrome	Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972.	UMLS:C1857492|OMIM:218550|SCTID:732250002|Orphanet:1533|MESH:C565665	mondo.json	craniosynostosis with fibular aplasia|Lowry syndrome	http://purl.obolibrary.org/obo/MONDO_0009038	https://omim.org/entry/218550|UMLS:C1857492|http://identifiers.org/snomedct/732250002|Orphanet:1533|http://identifiers.org/mesh/C565665	ordo_malformation_syndrome
MONDO:0010009	biolink:Disease	obsolete SC phocomelia syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010009		
MONDO:0009037	biolink:Disease	craniosynostosis with anomalies of the cranial base and digits		OMIM:218530|UMLS:C1857493|MESH:C565666	mondo.json	craniosynostosis with anomalies of the cranial base and digits	http://purl.obolibrary.org/obo/MONDO_0009037	https://omim.org/entry/218530|UMLS:C1857493|http://identifiers.org/mesh/C565666	
MONDO:0009036	biolink:Disease	cardiocranial syndrome, Pfeiffer type	Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).	UMLS:C1857495|OMIM:218450|GARD:0008586|Orphanet:2872|MESH:C535578|SCTID:720606005	mondo.json	Pfeiffer Cardiocranial syndrome|craniosynostosis-congenital heart disease-intellectual disability syndrome|sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis|Cardiocranial syndrome|craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis|Pfeiffer-type cardiocranial syndrome|Pfeiffer Singer Zschiesche syndrome|Pfeiffer-Singer-Zschiesche syndrome	http://purl.obolibrary.org/obo/MONDO_0009036	https://omim.org/entry/218450|http://identifiers.org/snomedct/720606005|UMLS:C1857495|Orphanet:2872|http://identifiers.org/mesh/C535578	ordo_malformation_syndrome
MONDO:0009035	biolink:Disease	craniometaphyseal dysplasia, autosomal recessive	Autosomal recessive form of craniometaphyseal dysplasia.	GARD:0001582|MESH:C536570|OMIM:218400	mondo.json	craniometaphyseal dysplasia, autosomal recessive type|craniometaphyseal dysplasia, autosomal recessive|CMDR|autosomal recessive craniometaphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0009035	http://identifiers.org/mesh/C536570|https://omim.org/entry/218400	
MONDO:0024650	biolink:Disease	drug-induced osteoporosis		ICD9:733.09|SCTID:14651005	mondo.json	drug-induced osteoporosis	http://purl.obolibrary.org/obo/MONDO_0024650	http://identifiers.org/snomedct/14651005	
MONDO:0009034	biolink:Disease	craniofacial dyssynostosis	Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus.	UMLS:C1857511|Orphanet:1516|OMIM:218350|GARD:0001575|MESH:C536455	mondo.json	craniofacial dyssynostosis with short stature|bilateral lambdoid and sagittal synostosis|craniofacial dyssynostosis and short stature|craniosynostosis-craniofacial dysostosis syndrome	http://purl.obolibrary.org/obo/MONDO_0009034	UMLS:C1857511|Orphanet:1516|http://identifiers.org/mesh/C536455|https://omim.org/entry/218350	ordo_malformation_syndrome|gard_rare
MONDO:0012674	biolink:Disease	age related macular degeneration 10	Any age-related macular degeneration in which the cause of the disease is a mutation in the TLR4 gene.	OMIM:611488|UMLS:C1969108|DOID:0110022|MESH:C566935	mondo.json	age-related macular degeneration caused by mutation in TLR4|macular degeneration, age-related, 10|macular Degeneration, age-related, type 10|age related macular degeneration type 10|TLR4 age-related macular degeneration|ARMD10	http://purl.obolibrary.org/obo/MONDO_0012674	https://omim.org/entry/611488|DOID:0110022|http://identifiers.org/mesh/C566935|UMLS:C1969108	
MONDO:0009033	biolink:Disease	temtamy syndrome	Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	OMIM:218340|SCTID:719947004|MESH:C536959|Orphanet:1777|GARD:0005688|NCIT:C148371|DOID:0111621|UMLS:C1857512	mondo.json	intellectual disability with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum|Dysmorphism, corpus callosum agenesis and colobomas|TEMTYS|mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|Temtamy-Shalash syndrome|TEMTAMY syndrome|craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation|temtamy syndrome	http://purl.obolibrary.org/obo/MONDO_0009033	http://identifiers.org/snomedct/719947004|NCIT:C148371|UMLS:C1857512|Orphanet:1777|DOID:0111621|http://identifiers.org/mesh/C536959|https://omim.org/entry/218340	ordo_malformation_syndrome|gard_rare
MONDO:0010011	biolink:Disease	schizencephaly	Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.	ICD9:742.4|Orphanet:799|NCIT:C99056|GARD:0000166|MESH:D065707|SCTID:253159001|OMIM:269160	mondo.json	schizencephaly	http://purl.obolibrary.org/obo/MONDO_0010011	Orphanet:799|NCIT:C99056|http://identifiers.org/snomedct/253159001|http://identifiers.org/mesh/D065707|https://omim.org/entry/269160	ordo_disease|gard_rare
MONDO:0009032	biolink:Disease	cranioectodermal dysplasia	Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).	OMIMPS:218330|UMLS:CN016627|Orphanet:1515|NCIT:C129305|GARD:0000359|DOID:0050577|SCTID:254093009|ICD9:756.9|UMLS:C0432235|UMLS:CN119432	mondo.json	CED|cranioectodermal dysplasia|Sensenbrenner syndrome|Levin syndrome	http://purl.obolibrary.org/obo/MONDO_0009032	http://identifiers.org/snomedct/254093009|UMLS:CN016627|UMLS:CN119432|NCIT:C129305|Orphanet:1515|DOID:0050577|UMLS:C0432235|https://omim.org/phenotypicSeries/PS218330	ordo_malformation_syndrome
MONDO:0010010	biolink:Disease	Schinzel-Giedion syndrome	Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.	ICD9:759.89|SCTID:18899000|GARD:0000117|MedDRA:10063540|OMIM:269150|MESH:C536632|Orphanet:798|UMLS:C0265227|NCIT:C129308	mondo.json	Schinzel Giedion midface-retraction syndrome|Sgs|Schinzel-Giedion syndrome|SGS|Schinzel-Giedion midface retraction syndrome|Schinzel Giedion syndrome|Schinzel-Giedion midface-retraction syndrome	http://purl.obolibrary.org/obo/MONDO_0010010	NCIT:C129308|UMLS:C0265227|http://identifiers.org/mesh/C536632|Orphanet:798|https://omim.org/entry/269150|http://identifiers.org/snomedct/18899000	gard_rare|ordo_malformation_syndrome
MONDO:0012675	biolink:Disease	corticosteroid-binding globulin deficiency	Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists.	OMIM:611489|Orphanet:199247|DOID:0090030|GARD:0013101|UMLS:C1852529	mondo.json	CBG deficiency|transcortin deficiency|corticosteroid-binding globulin deficiency|corticosteroid-binding globulin, elevated|Transcortin deficiency|Cbg deficiency	http://purl.obolibrary.org/obo/MONDO_0012675	https://omim.org/entry/611489|DOID:0090030|Orphanet:199247|UMLS:C1852529	gard_rare|ordo_disease
MONDO:0010013	biolink:Disease	schneckenbecken dysplasia	Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.	UMLS:C0432194|SCTID:254049009|MESH:C536637|GARD:0000169|DOID:0050775|ICD9:756.9|OMIM:269250|Orphanet:3144	mondo.json	chondrodysplasia, lethal neonatal, with snail-like pelvis|chondrodysplasia lethal neonatal with snail like pelvis|SLC35D1-CDG|chondrodysplasia with snail-like pelvis|SHNKND|schneckenbecken dysplasia	http://purl.obolibrary.org/obo/MONDO_0010013	Orphanet:3144|https://omim.org/entry/269250|UMLS:C0432194|DOID:0050775|http://identifiers.org/mesh/C536637|http://identifiers.org/snomedct/254049009	gard_rare|ordo_malformation_syndrome
MONDO:0009031	biolink:Disease	craniodiaphyseal dysplasia	Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.	OMIM:122860|MESH:C562940|GARD:0001567|Orphanet:1513|SCTID:205506004|NCIT:C131429|OMIM:218300|DOID:0080032|UMLS:C0410539|ICD9:756.59	mondo.json	CDD|craniodiaphyseal dysplasia|Lionitis	http://purl.obolibrary.org/obo/MONDO_0009031	http://identifiers.org/mesh/C562940|DOID:0080032|UMLS:C0410539|Orphanet:1513|NCIT:C131429|https://omim.org/entry/218300|http://identifiers.org/snomedct/205506004	ordo_malformation_syndrome|gard_rare
MONDO:0012672	biolink:Disease	cholelithiasis	The presence of calculi in the gallbladder.	SCTID:266474003|ICD9:574|ICD9:574.5|UMLS:C0947622|EFO:0004799|DOID:10211|MESH:D002769|ICD9:574.20|NCIT:C122822|UMLS:C0008350|OMIM:611465	mondo.json	GBD4|gallstones|gallbladder disease 4|gallbladder disease type 4	http://purl.obolibrary.org/obo/MONDO_0012672	http://identifiers.org/mesh/D002769|NCIT:C122822|UMLS:C0008350|http://identifiers.org/snomedct/266474003|DOID:10211|https://omim.org/entry/611465	
MONDO:0012673	biolink:Disease	colorectal cancer, susceptibility to, 2		OMIM:611469	mondo.json	colorectal cancer, susceptibility to, on chromosome 8Q24|CRCS2|colorectal cancer, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0012673	https://omim.org/entry/611469	predisposition
MONDO:0010012	biolink:Disease	autoimmune polyendocrinopathy type 2	Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis.	Orphanet:3143|SCTID:83728000|OMIM:269200|DOID:0050168|GARD:0007611|ICD9:258.8|NCIT:C129728	mondo.json	autoimmune polyendocrine syndrome, type II|polyglandular autoimmune syndrome, type 2|PGA 2|autoimmune polyendocrine syndrome type 2|autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome|polyglandular deficiency syndrome type 2|multiple endocrine deficiency syndrome, type 2|APS 2|diabetes mellitus, Addison disease, myxedema|diabetes mellitus, Addison's disease, myxedema|autoimmune polyglandular syndrome type 2|Schmidt's syndrome|APS type 2|polyendocrine autoimmune syndrome, type 2|APS2|Schmidt syndrome	http://purl.obolibrary.org/obo/MONDO_0010012	https://omim.org/entry/269200|http://identifiers.org/snomedct/83728000|DOID:0050168|NCIT:C129728|Orphanet:3143	ordo_disease
MONDO:0009030	biolink:Disease	cranial nerves, recurrent paresis of		UMLS:C1857530|MESH:C565672|OMIM:218200	mondo.json	cranial nerves, recurrent paresis of	http://purl.obolibrary.org/obo/MONDO_0009030	UMLS:C1857530|http://identifiers.org/mesh/C565672|https://omim.org/entry/218200	
MONDO:0010015	biolink:Disease	anterior segment dysgenesis 7	Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene.	DOID:0060648|Orphanet:289499|OMIM:269400|UMLS:C3151617	mondo.json	sclerocornea with Other ocular anomalies|sclerocornea with other ocular anomalies|CCMCO|ASGD7|corneal opacification and other ocular anomalies|congenital cataract microcornea with corneal opacity|anterior segment dysgenesis 7|corneal opacification with Other ocular anomalies|COPOA|PXDN anterior segment dysgenesis|anterior segment dysgenesis caused by mutation in PXDN|corneal opacification with other ocular anomalies|anterior segment dysgenesis 7, with sclerocornea	http://purl.obolibrary.org/obo/MONDO_0010015	https://omim.org/entry/269400|UMLS:C3151617|DOID:0060648|Orphanet:289499	ordo_malformation_syndrome
MONDO:0012678	biolink:Disease	atrial fibrillation, familial, 5		UMLS:C1969099|MESH:C566932|OMIM:611494	mondo.json	atrial fibrillation, familial, 5|ATFB5	http://purl.obolibrary.org/obo/MONDO_0012678	https://omim.org/entry/611494|http://identifiers.org/mesh/C566932|UMLS:C1969099	
MONDO:0012679	biolink:Disease	autosomal recessive osteopetrosis 6	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene.	MESH:C566931|OMIM:611497|DOID:0110945|UMLS:C1969093|GARD:0004156|Orphanet:210110	mondo.json	autosomal recessive intermediate osteopetrosis|osteopetrosis autosomal recessive intermediate form|osteopetrosis (disease) caused by mutation in PLEKHM1|autosomal recessive osteopetrosis intermediate form|osteopetrosis, autosomal recessive type 6|osteopetrosis, autosomal recessive, Intermediate form|intermediate osteopetrosis|osteopetrosis autosomal recessive 6|OPTB6|autosomal recessive osteopetrosis type 6|PLEKHM1 osteopetrosis (disease)|osteopetrosis, autosomal recessive 6	http://purl.obolibrary.org/obo/MONDO_0012679	https://omim.org/entry/611497|http://identifiers.org/mesh/C566931|UMLS:C1969093|Orphanet:210110|DOID:0110945	gard_rare|ordo_malformation_syndrome
MONDO:0010014	biolink:Disease	craniometadiaphyseal dysplasia, wormian bone type	Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.	OMIM:269300|Orphanet:85184|SCTID:278833002	mondo.json	CRMDD|CRANIOMETADIAPHYSEAL dysplasia|Schwartz-Lelek syndrome	http://purl.obolibrary.org/obo/MONDO_0010014	https://omim.org/entry/269300|http://identifiers.org/snomedct/278833002|Orphanet:85184	ordo_malformation_syndrome
MONDO:0012676	biolink:Disease	autosomal recessive osteopetrosis 4	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene.	MESH:C566933|DOID:0110944|OMIM:611490|GARD:0005993	mondo.json	autosomal recessive osteopetrosis caused by mutation in CLCN7|osteopetrosis, autosomal recessive type 4|infantile malignant osteopetrosis 2|osteopetrosis infantile malignant 2|autosomal recessive malignant osteopetrosis caused by mutation in CLCN7|OPTB4|osteopetrosis, autosomal recessive 4|CLCN7 autosomal recessive osteopetrosis|osteopetrosis, infantile malignant 2|CLCN7 autosomal recessive malignant osteopetrosis|osteopetrosis autosomal recessive 4|autosomal recessive osteopetrosis type 4	http://purl.obolibrary.org/obo/MONDO_0012676	https://omim.org/entry/611490|http://identifiers.org/mesh/C566933|DOID:0110944	gard_rare
MONDO:0010017	biolink:Disease	sea-blue histiocyte syndrome	A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly.	EFO:1001170|Orphanet:158029|OMIM:269600|SCTID:37821003|GARD:0008241|UMLS:C0036489|NCIT:C85062|DOID:4423|MESH:D012618	mondo.json	SEA-blue histiocyte disease|histiocytosis, Sea-blue|sea-blue histiocytosis|inherited Lipemic splenomegaly	http://purl.obolibrary.org/obo/MONDO_0010017	https://omim.org/entry/269600|http://identifiers.org/snomedct/37821003|DOID:4423|Orphanet:158029|http://identifiers.org/mesh/D012618|UMLS:C0036489|NCIT:C85062	clingen|ordo_disease
MONDO:0012677	biolink:Disease	atrial fibrillation, familial, 4	Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene.	MESH:C566244|UMLS:C1862394|OMIM:611493	mondo.json	ATFB4|atrial fibrillation, familial, type 4|familial atrial fibrillation caused by mutation in KCNE2|KCNE2 familial atrial fibrillation|atrial fibrillation, familial, 4	http://purl.obolibrary.org/obo/MONDO_0012677	https://omim.org/entry/611493|UMLS:C1862394|http://identifiers.org/mesh/C566244	
MONDO:0010016	biolink:Disease	sclerosteosis 1	Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene.	DOID:0060756|UMLS:CN032489|OMIM:269500	mondo.json	SOST sclerosteosis|SOST1|sclerosteosis 1|sclerosteosis type 1|cortical hyperostosis with syndactyly|SOST|sclerosteosis caused by mutation in SOST	http://purl.obolibrary.org/obo/MONDO_0010016	https://omim.org/entry/269500|UMLS:CN032489|DOID:0060756	
HGNC:11875	biolink:NamedThing	TMPO			mondo.json		http://identifiers.org/hgnc/11875		
MONDO:0024649	biolink:Disease	optic tract astrocytoma	An astrocytoma that affects the optic tract. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group.	UMLS:C1336971|NCIT:C7533	mondo.json	astrocytoma (excluding glioblastoma) of optic tract|visual pathway astrocytoma|optic tract astrocytoma (excluding glioblastoma)|optic tract astrocytoma	http://purl.obolibrary.org/obo/MONDO_0024649	UMLS:C1336971|NCIT:C7533	
MONDO:0024648	biolink:Disease	optic tract meningioma	A meningioma that affects the visual pathway.	UMLS:C1336972|NCIT:C5587	mondo.json	visual pathway meningioma|meningioma of visual pathway|meningioma of the visual pathway|optic tract meningioma|optic tract meningioma (disease)|meningioma of the optic tract|meningioma (disease) of optic tract|meningioma of optic tract	http://purl.obolibrary.org/obo/MONDO_0024648	NCIT:C5587|UMLS:C1336972	
MONDO:0012670	biolink:Disease	autosomal recessive nonsyndromic hearing loss 63	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene.	OMIM:611451|MESH:C566951|DOID:0110515|UMLS:C1969621	mondo.json	autosomal recessive deafness 63|DFNB63|deafness, autosomal recessive type 63|deafness, autosomal recessive 63|autosomal recessive nonsyndromic deafness caused by mutation in LRTOMT|autosomal recessive nonsyndromic deafness type 63|autosomal recessive nonsyndromic deafness 63|LRTOMT autosomal recessive nonsyndromic deafness	http://purl.obolibrary.org/obo/MONDO_0012670	http://identifiers.org/mesh/C566951|DOID:0110515|UMLS:C1969621|https://omim.org/entry/611451	
MONDO:0012671	biolink:Disease	tremor, hereditary essential, 3		OMIM:611456|UMLS:C1969617|MESH:C566949|DOID:0111430	mondo.json	ETM3|tremor, hereditary essential, 3|essential tremor, hereditary, 3	http://purl.obolibrary.org/obo/MONDO_0012671	http://identifiers.org/mesh/C566949|DOID:0111430|UMLS:C1969617|https://omim.org/entry/611456	
GO:0051234	biolink:NamedThing	establishment of localization	Any process that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation.		mondo.json	establishment of localisation	http://purl.obolibrary.org/obo/GO_0051234		
GO:0051235	biolink:NamedThing	maintenance of location	Any process in which a cell, substance or cellular entity, such as a protein complex or organelle, is maintained in a location and prevented from moving elsewhere.		mondo.json	maintenance of localization|retention|storage|sequestering	http://purl.obolibrary.org/obo/GO_0051235		
GO:0051239	biolink:NamedThing	regulation of multicellular organismal process	Any process that modulates the frequency, rate or extent of a multicellular organismal process, the processes pertinent to the function of a multicellular organism above the cellular level; includes the integrated processes of tissues and organs.		mondo.json		http://purl.obolibrary.org/obo/GO_0051239		
NCBITaxon:6951	biolink:OrganismalEntity	Astigmata		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6951		
GO:0016903	biolink:NamedThing	oxidoreductase activity, acting on the aldehyde or oxo group of donors	Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor.		mondo.json	oxidoreductase activity, acting on the aldehyde or oxo group of donors, other acceptors	http://purl.obolibrary.org/obo/GO_0016903		
CHEBI:26020	biolink:ChemicalSubstance	phosphate	Salts and esters of phosphoric and oligophosphoric acids and their chalcogen analogues. In inorganic chemistry, the term is also used to describe anionic coordination entities with phosphorus as central atom.		mondo.json	phosphates|phosphates	http://purl.obolibrary.org/obo/CHEBI_26020		
GO:2000860	biolink:NamedThing	positive regulation of aldosterone secretion	Any process that activates or increases the frequency, rate or extent of aldosterone secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_2000860		
HGNC:11843	biolink:NamedThing	TLL1			mondo.json		http://identifiers.org/hgnc/11843		
HGNC:6758	biolink:NamedThing	MAB21L2			mondo.json		http://identifiers.org/hgnc/6758		
NCBITaxon:6960	biolink:OrganismalEntity	Hexapoda		GC_ID:1	mondo.json	Uniramia|Atelocerata|Tracheata|insects|hexapods	http://purl.obolibrary.org/obo/NCBITaxon_6960		
GO:0051247	biolink:NamedThing	positive regulation of protein metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a protein.		mondo.json	stimulation of cellular protein metabolic process|up-regulation of cellular protein metabolic process|activation of cellular protein metabolic process|positive regulation of cellular protein metabolism|up-regulation of protein metabolic process|positive regulation of protein metabolism|upregulation of cellular protein metabolic process|up regulation of protein metabolic process|activation of protein metabolic process|positive regulation of cellular protein metabolic process|stimulation of protein metabolic process|up regulation of cellular protein metabolic process|upregulation of protein metabolic process	http://purl.obolibrary.org/obo/GO_0051247		
GO:0051248	biolink:NamedThing	negative regulation of protein metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of chemical reactions and pathways involving a protein.		mondo.json	down-regulation of protein metabolic process|down regulation of protein metabolic process|downregulation of cellular protein metabolic process|negative regulation of protein metabolism|inhibition of protein metabolic process|down regulation of cellular protein metabolic process|downregulation of protein metabolic process|inhibition of cellular protein metabolic process|negative regulation of cellular protein metabolism|negative regulation of cellular protein metabolic process|down-regulation of cellular protein metabolic process	http://purl.obolibrary.org/obo/GO_0051248		
GO:0051245	biolink:NamedThing	negative regulation of cellular defense response	Any process that stops, prevents, or reduces the rate of the cellular defense response.		mondo.json	down regulation of cellular defense response|downregulation of cellular defense response|inhibition of cellular defense response|negative regulation of cellular defence response|down-regulation of cellular defense response	http://purl.obolibrary.org/obo/GO_0051245		
GO:0051246	biolink:NamedThing	regulation of protein metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein.		mondo.json	regulation of protein metabolism	http://purl.obolibrary.org/obo/GO_0051246		
MONDO:0000601	biolink:Disease	obsolete autoimmune disorder of urogenital tract	OBSOLETE. A hypersensitivity reaction type II disease that involves the genitourinary system.	DOID:0060049	mondo.json	genitourinary system autoimmune disease|genitourinary system hypersensitivity reaction type II disease|autoimmune disease of genitourinary system	http://purl.obolibrary.org/obo/MONDO_0000601	DOID:0060049	
MONDO:0000600	biolink:Disease	nosophobia	A specific phobia that involves an irrational fear of contracting a disease.	DOID:0060048|EFO:1001903	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000600	DOID:0060048	
GO:0051249	biolink:NamedThing	regulation of lymphocyte activation	Any process that modulates the frequency, rate or extent of lymphocyte activation.		mondo.json		http://purl.obolibrary.org/obo/GO_0051249		
HGNC:11849	biolink:NamedThing	TLR3			mondo.json		http://identifiers.org/hgnc/11849		
HGNC:11848	biolink:NamedThing	TLR2			mondo.json		http://identifiers.org/hgnc/11848		
HGNC:11847	biolink:NamedThing	TLR1			mondo.json		http://identifiers.org/hgnc/11847		
HGNC:11851	biolink:NamedThing	TLR5			mondo.json		http://identifiers.org/hgnc/11851		
HGNC:6764	biolink:NamedThing	MAD2L2			mondo.json		http://identifiers.org/hgnc/6764		
HGNC:11850	biolink:NamedThing	TLR4			mondo.json		http://identifiers.org/hgnc/11850		
GO:2000870	biolink:NamedThing	regulation of progesterone secretion	Any process that modulates the frequency, rate or extent of progesterone secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_2000870		
GO:2000871	biolink:NamedThing	negative regulation of progesterone secretion	Any process that stops, prevents or reduces the frequency, rate or extent of progesterone secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_2000871		
HGNC:6769	biolink:NamedThing	SMAD3			mondo.json		http://identifiers.org/hgnc/6769		
HGNC:11854	biolink:NamedThing	TSPAN7			mondo.json		http://identifiers.org/hgnc/11854		
GO:2000872	biolink:NamedThing	positive regulation of progesterone secretion	Any process that activates or increases the frequency, rate or extent of progesterone secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_2000872		
GO:0051240	biolink:NamedThing	positive regulation of multicellular organismal process	Any process that activates or increases the frequency, rate or extent of an organismal process, any of the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs.		mondo.json	up regulation of multicellular organismal process|stimulation of multicellular organismal process|up-regulation of multicellular organismal process|activation of multicellular organismal process|upregulation of multicellular organismal process	http://purl.obolibrary.org/obo/GO_0051240		
IAO:0000007	biolink:NamedThing	action specification	A directive information entity that describes an action the bearer will take.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000007		
IAO:0000005	biolink:NamedThing	objective specification	a directive information entity that describes an intended process endpoint. When part of a plan specification the concretization is realized in a planned process in which the bearer tries to effect the world so that the process endpoint is achieved.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000005		
IAO:0000002	biolink:NamedThing	example to be eventually removed			mondo.json		http://purl.obolibrary.org/obo/IAO_0000002		
GO:0051241	biolink:NamedThing	negative regulation of multicellular organismal process	Any process that stops, prevents, or reduces the frequency, rate or extent of an organismal process, the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs.		mondo.json	downregulation of multicellular organismal process|down regulation of multicellular organismal process|inhibition of multicellular organismal process|down-regulation of multicellular organismal process	http://purl.obolibrary.org/obo/GO_0051241		
HGNC:6762	biolink:NamedThing	MAD1L1			mondo.json		http://identifiers.org/hgnc/6762		
NCBITaxon:6936	biolink:OrganismalEntity	Argasidae		GC_ID:1	mondo.json	softbacked ticks|soft ticks	http://purl.obolibrary.org/obo/NCBITaxon_6936		
NCBITaxon:6935	biolink:OrganismalEntity	Ixodida		GC_ID:1	mondo.json	ticks	http://purl.obolibrary.org/obo/NCBITaxon_6935		
NCBITaxon:6934	biolink:OrganismalEntity	Parasitiformes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6934		
NCBITaxon:6933	biolink:OrganismalEntity	Acari		GC_ID:1	mondo.json	mites & ticks|mites and ticks|Acarina	http://purl.obolibrary.org/obo/NCBITaxon_6933		
HGNC:23801	biolink:NamedThing	SIPA1L3			mondo.json		http://identifiers.org/hgnc/23801		
NCBITaxon:6939	biolink:OrganismalEntity	Ixodidae		GC_ID:1	mondo.json	hardbacked ticks|hard ticks|scale ticks	http://purl.obolibrary.org/obo/NCBITaxon_6939		
NCBITaxon:6937	biolink:OrganismalEntity	Ornithodoros		GC_ID:1	mondo.json	relapsing fever ticks	http://purl.obolibrary.org/obo/NCBITaxon_6937		
HGNC:11817	biolink:NamedThing	TIMM8A			mondo.json		http://identifiers.org/hgnc/11817		
HGNC:6774	biolink:NamedThing	SMAD9			mondo.json		http://identifiers.org/hgnc/6774		
UBERON:0008447	biolink:AnatomicalEntity	intertarsal joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008447		
HGNC:6776	biolink:NamedThing	MAF			mondo.json		http://identifiers.org/hgnc/6776		
HGNC:11822	biolink:NamedThing	TIMP3			mondo.json		http://identifiers.org/hgnc/11822		
GO:0051250	biolink:NamedThing	negative regulation of lymphocyte activation	Any process that stops, prevents, or reduces the frequency, rate or extent of lymphocyte activation.		mondo.json	down-regulation of lymphocyte activation|down regulation of lymphocyte activation|inhibition of lymphocyte activation|downregulation of lymphocyte activation	http://purl.obolibrary.org/obo/GO_0051250		
GO:0051251	biolink:NamedThing	positive regulation of lymphocyte activation	Any process that activates or increases the frequency, rate or extent of lymphocyte activation.		mondo.json	up regulation of lymphocyte activation|activation of lymphocyte activation|stimulation of lymphocyte activation|upregulation of lymphocyte activation|up-regulation of lymphocyte activation	http://purl.obolibrary.org/obo/GO_0051251		
HGNC:4118	biolink:NamedThing	GALK1			mondo.json		http://identifiers.org/hgnc/4118		
IAO:0000015	biolink:NamedThing	information carrier	A quality of an information bearer that imparts the information content		mondo.json		http://purl.obolibrary.org/obo/IAO_0000015		
HGNC:4116	biolink:NamedThing	GALE			mondo.json		http://identifiers.org/hgnc/4116		
GO:0051254	biolink:NamedThing	positive regulation of RNA metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving RNA.		mondo.json	up-regulation of RNA metabolic process|up regulation of RNA metabolic process|activation of RNA metabolic process|positive regulation of RNA metabolism|stimulation of RNA metabolic process|upregulation of RNA metabolic process	http://purl.obolibrary.org/obo/GO_0051254		
HGNC:4115	biolink:NamedThing	GALC			mondo.json		http://identifiers.org/hgnc/4115		
HGNC:6770	biolink:NamedThing	SMAD4			mondo.json		http://identifiers.org/hgnc/6770		
HGNC:4114	biolink:NamedThing	GAL			mondo.json		http://identifiers.org/hgnc/4114		
GO:0051252	biolink:NamedThing	regulation of RNA metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving RNA.		mondo.json	regulation of RNA metabolism	http://purl.obolibrary.org/obo/GO_0051252		
HGNC:6772	biolink:NamedThing	SMAD6			mondo.json		http://identifiers.org/hgnc/6772		
GO:0051253	biolink:NamedThing	negative regulation of RNA metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving RNA.		mondo.json	inhibition of RNA metabolic process|downregulation of RNA metabolic process|negative regulation of RNA metabolism|down-regulation of RNA metabolic process|down regulation of RNA metabolic process	http://purl.obolibrary.org/obo/GO_0051253		
HGNC:6773	biolink:NamedThing	SMAD7			mondo.json		http://identifiers.org/hgnc/6773		
NCBITaxon:6947	biolink:OrganismalEntity	Prostigmata		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6947		
NCBITaxon:6946	biolink:OrganismalEntity	Acariformes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6946		
NCBITaxon:6945	biolink:OrganismalEntity	Ixodes scapularis		GC_ID:1	mondo.json	black-legged tick|blacklegged tick|deer tick|Ixodes dammini|shoulder tick	http://purl.obolibrary.org/obo/NCBITaxon_6945		
NCBITaxon:6944	biolink:OrganismalEntity	Ixodes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6944		
NCBITaxon:6943	biolink:OrganismalEntity	Amblyomma americanum		GC_ID:1	mondo.json	Lone Star tick|Haemalastor americanus	http://purl.obolibrary.org/obo/NCBITaxon_6943		
NCBITaxon:6942	biolink:OrganismalEntity	Amblyomma		GC_ID:1|PMID:12386418	mondo.json	Aponomma	http://purl.obolibrary.org/obo/NCBITaxon_6942		
HGNC:11825	biolink:NamedThing	NKX2-1			mondo.json		http://identifiers.org/hgnc/11825		
HGNC:11824	biolink:NamedThing	TINF2			mondo.json		http://identifiers.org/hgnc/11824		
HGNC:11828	biolink:NamedThing	TJP2			mondo.json		http://identifiers.org/hgnc/11828		
UBERON:0008435	biolink:AnatomicalEntity	vertebral arch of sacral segment			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008435		
HGNC:4122	biolink:NamedThing	GALNS			mondo.json		http://identifiers.org/hgnc/4122		
UBERON:0008436	biolink:AnatomicalEntity	thoracic vertebral arch			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008436		
HGNC:11834	biolink:NamedThing	TKT			mondo.json		http://identifiers.org/hgnc/11834		
HGNC:11831	biolink:NamedThing	TK2			mondo.json		http://identifiers.org/hgnc/11831		
HGNC:23805	biolink:NamedThing	ASXL2			mondo.json		http://identifiers.org/hgnc/23805		
UBERON:0008430	biolink:AnatomicalEntity	lumbar vertebral foramen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008430		
IAO:0000027	biolink:NamedThing	data item	a data item is an information content entity that is intended to be a truthful statement about something (modulo, e.g., measurement precision or other systematic errors) and is constructed/acquired by a method which reliably tends to produce (approximately) truthful statements.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000027		
UBERON:0008431	biolink:AnatomicalEntity	sacral foramen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008431		
UBERON:0008432	biolink:AnatomicalEntity	thoracic vertebral foramen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008432		
UBERON:0008433	biolink:AnatomicalEntity	lumbar vertebral arch			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008433		
HGNC:6783	biolink:NamedThing	MAG			mondo.json		http://identifiers.org/hgnc/6783		
UBERON:0008434	biolink:AnatomicalEntity	cervical vertebral arch			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008434		
MONDO:0000630	biolink:Disease	immune system organ benign neoplasm	A benign neoplasm that involves the immune organ.	DOID:0060092	mondo.json	immune organ benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000630	DOID:0060092	
GO:2000828	biolink:NamedThing	regulation of parathyroid hormone secretion	Any process that modulates the frequency, rate or extent of parathyroid hormone secretion.		mondo.json	regulation of parathyrin secretion|regulation of parathormone secretion|regulation of PTH secretion	http://purl.obolibrary.org/obo/GO_2000828		
GO:2000829	biolink:NamedThing	negative regulation of parathyroid hormone secretion	Any process that stops, prevents or reduces the frequency, rate or extent of parathyroid hormone secretion.		mondo.json	negative regulation of PTH secretion|negative regulation of parathyrin secretion|negative regulation of parathormone secretion	http://purl.obolibrary.org/obo/GO_2000829		
MONDO:0000634	biolink:Disease	thoracic benign neoplasm	A non-metastasizing neoplasm arising from any of the organs of the thoracic cavity. Representative examples include pleural adenomatoid tumor, chest wall lipoma, mediastinal schwannoma, and lung hamartoma.	SCTID:255059002|ICD9:229.8|DOID:0060097|NCIT:C4565|UMLS:C0346440	mondo.json	thoracic segment of trunk benign neoplasm|benign thoracic tumor|benign tumor of thorax|benign tumor of the thorax|benign thoracic neoplasm|benign neoplasm of thorax|benign neoplasm of the thorax	http://purl.obolibrary.org/obo/MONDO_0000634	DOID:0060097|NCIT:C4565|UMLS:C0346440|http://identifiers.org/snomedct/255059002	
MONDO:0000633	biolink:Disease	sensory organ benign neoplasm	A benign neoplasm that involves the sense organ.	DOID:0060096	mondo.json	sense organ benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000633	DOID:0060096	
MONDO:0000632	biolink:Disease	uterine benign neoplasm	A non-metastasizing neoplasm that arises from the uterine corpus or the cervix. Representative examples include leiomyoma, adenomyoma, and endocervical polyp.	ICD9:219.9|DOID:0060095|UMLS:C0153999|NCIT:C3609|SCTID:92470003|ICD9:219.8	mondo.json	benign uterus neoplasms|benign uterus tumors|benign uterine neoplasm|Uterous tumors, benign|benign uterine tumors|uterine tumors, benign|uterine neoplasms, benign|benign uterine tumor|benign tumor of uterus|benign tumor of the uterus|Uterous neoplasms, benign|benign uterine neoplasms|benign neoplasm of uterus|benign uterus tumor|benign neoplasm of the uterus|uterus benign neoplasm|benign uterus neoplasm	http://purl.obolibrary.org/obo/MONDO_0000632	DOID:0060095|http://identifiers.org/snomedct/92470003|NCIT:C3609|UMLS:C0153999	
MONDO:0000631	biolink:Disease	bone benign neoplasm	A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites.	DOID:0060094|ICD9:213.9|NCIT:C4880|SCTID:92027006	mondo.json	benign tumor of bone|benign tumor of the bone|benign neoplasm of bone|benign neoplasm of the bone|benign bone tumor|benign osseous tumor|benign osseous neoplasm|bone tissue benign neoplasm|benign bone neoplasm	http://purl.obolibrary.org/obo/MONDO_0000631	DOID:0060094|http://identifiers.org/snomedct/92027006|NCIT:C4880	
MONDO:0012616	biolink:Disease	obsolete MRT8			mondo.json		http://purl.obolibrary.org/obo/MONDO_0012616		
MONDO:0012617	biolink:Disease	intellectual disability, autosomal recessive 9		UMLS:C1970195|MESH:C567014|OMIM:611095	mondo.json	MRT9|mental retardation, autosomal recessive 9|mental retardation, autosomal recessive 26|intellectual disability, autosomal recessive 9|mental retardation, autosomal recessive, 9/26|intellectual disability, autosomal recessive 26	http://purl.obolibrary.org/obo/MONDO_0012617	https://omim.org/entry/611095|UMLS:C1970195|http://identifiers.org/mesh/C567014	
MONDO:0012614	biolink:Disease	intellectual disability, autosomal recessive 6	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene.	MESH:C567017|OMIM:611092|UMLS:C1970198	mondo.json	mental retardation, autosomal recessive type 6|GRIK2 autosomal recessive non-syndromic intellectual disability|intellectual developmental disorder, autosomal recessive 6|intellectual disability, autosomal recessive type 6|autosomal recessive non-syndromic intellectual disability caused by mutation in GRIK2|MRT6|intellectual disability, autosomal recessive 6|mental retardation, autosomal recessive 6	http://purl.obolibrary.org/obo/MONDO_0012614	https://omim.org/entry/611092|UMLS:C1970198|http://identifiers.org/mesh/C567017	
MONDO:0012615	biolink:Disease	intellectual disability, autosomal recessive 7	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene.	MESH:C567016|OMIM:611093|UMLS:C1970197	mondo.json	intellectual disability, autosomal recessive 22|mental retardation, autosomal recessive type 7|intellectual disability, autosomal recessive type 7|MRT7|TUSC3 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 7|intellectual disability, autosomal recessive 7|mental retardation, autosomal recessive 22|autosomal recessive non-syndromic intellectual disability caused by mutation in TUSC3	http://purl.obolibrary.org/obo/MONDO_0012615	https://omim.org/entry/611093|UMLS:C1970197|http://identifiers.org/mesh/C567016	
GO:2000823	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_2000823		
GO:2000824	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_2000824		
GO:2000825	biolink:NamedThing	positive regulation of androgen receptor activity	Any process that activates or increases the frequency, rate or extent of androgen receptor activity.		mondo.json		http://purl.obolibrary.org/obo/GO_2000825		
MONDO:0012618	biolink:Disease	intellectual disability, autosomal recessive 10		MESH:C567013|UMLS:C1970194|OMIM:611096	mondo.json	intellectual disability, autosomal recessive 20|intellectual disability, autosomal recessive 10|mental retardation, autosomal recessive 10/20|mental retardation, autosomal recessive 20|mental retardation, autosomal recessive 10|MRT10	http://purl.obolibrary.org/obo/MONDO_0012618	https://omim.org/entry/611096|UMLS:C1970194|http://identifiers.org/mesh/C567013	
MONDO:0012619	biolink:Disease	intellectual disability, autosomal recessive 11		MESH:C567012|UMLS:C1970193|OMIM:611097	mondo.json	intellectual disability, autosomal recessive 11|mental retardation, autosomal recessive, 11|MRT11|mental retardation, autosomal recessive 11	http://purl.obolibrary.org/obo/MONDO_0012619	UMLS:C1970193|https://omim.org/entry/611097|http://identifiers.org/mesh/C567012	
MONDO:0012620	biolink:Disease	prostate cancer, hereditary, 10		OMIM:611100|MESH:C567011|UMLS:C1970192	mondo.json	prostate cancer, hereditary, 10|HPC10	http://purl.obolibrary.org/obo/MONDO_0012620	UMLS:C1970192|https://omim.org/entry/611100|http://identifiers.org/mesh/C567011	
MONDO:0012623	biolink:Disease	intellectual disability, autosomal recessive 4		UMLS:C1970179|OMIM:611107|MESH:C567008	mondo.json	intellectual disability, autosomal recessive 4|MRT4|mental retardation, autosomal recessive 4|mental retardation, autosomal recessive, 4	http://purl.obolibrary.org/obo/MONDO_0012623	UMLS:C1970179|https://omim.org/entry/611107|http://identifiers.org/mesh/C567008	
MONDO:0012624	biolink:Disease	acyl-CoA dehydrogenase 9 deficiency	A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.	UMLS:C1970173|SCTID:725046003|Orphanet:99901|OMIM:611126|MESH:C567006	mondo.json	mitochondrial complex I deficiency due to ACAD9 deficiency|acyl-CoA dehydrogenase 9 deficiency|ACAD9 deficiency|mitochondrial complex I deficiency, nuclear type 20	http://purl.obolibrary.org/obo/MONDO_0012624	http://identifiers.org/snomedct/725046003|https://omim.org/entry/611126|UMLS:C1970173|http://identifiers.org/mesh/C567006|Orphanet:99901	ordo_disease
MONDO:0012621	biolink:Disease	deafness-infertility syndrome	Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.	ICD9:758.39|MESH:C567010|GARD:0011911|Orphanet:94064|SCTID:700489002|OMIM:611102	mondo.json	deafness and male infertility|dis|chromosome 15Q15.3 deletion syndrome|deafness, sensorineural, and Male infertility|deafness-infertility syndrome|sensorineural deafness and male infertility	http://purl.obolibrary.org/obo/MONDO_0012621	Orphanet:94064|http://identifiers.org/snomedct/700489002|https://omim.org/entry/611102|http://identifiers.org/mesh/C567010	gard_rare|ordo_malformation_syndrome
MONDO:0012622	biolink:Disease	leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.	SCTID:703537008|Orphanet:137898|MESH:C567009|OMIM:611105|GARD:0012652	mondo.json	leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation|LBSL|leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome|mitochondrial aspartyl-tRNA synthetase deficiency|leukoencephalopathy with brain stem and spinal cord involvement - high lactate|leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation|leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation|leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome	http://purl.obolibrary.org/obo/MONDO_0012622	https://omim.org/entry/611105|http://identifiers.org/mesh/C567009|Orphanet:137898|http://identifiers.org/snomedct/703537008	ordo_disease
MONDO:0000627	biolink:Disease	benign endocrine neoplasm	A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma.	SCTID:92085000|DOID:0060089|ICD9:227.8|ICD9:227.9|UMLS:C0347524|NCIT:C4621	mondo.json	endocrine organ benign neoplasm|benign neoplasm of the endocrine gland|benign endocrine neoplasm|benign neoplasm of endocrine gland|benign endocrine gland tumor|benign tumor of the endocrine gland|benign endocrine gland neoplasm|benign tumor of endocrine gland|benign endocrine tumor|endocrine gland benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000627	DOID:0060089|http://identifiers.org/snomedct/92085000|NCIT:C4621|UMLS:C0347524	
GO:0051272	biolink:NamedThing	obsolete positive regulation of cellular component movement	OBSOLETE. Any process that activates or increases the frequency, rate or extent of the movement of a cellular component.		mondo.json	positive regulation of cellular component motion	http://purl.obolibrary.org/obo/GO_0051272		
MONDO:0000626	biolink:Disease	vestibular gland benign neoplasm	A benign neoplasm that involves the vestibular gland.	DOID:0060088	mondo.json	vestibular gland benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000626	DOID:0060088	
MONDO:0000625	biolink:Disease	benign male reproductive system neoplasm	A non-metastasizing neoplasm that arises from the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, seminal vesicle cystadenoma, and epididymal adenomatoid tumor.	UMLS:C0947786|DOID:0060087|NCIT:C4777	mondo.json	benign Male reproductive system tumor|male reproductive organ benign neoplasm|benign Male reproductive system neoplasm	http://purl.obolibrary.org/obo/MONDO_0000625	UMLS:C0947786|DOID:0060087|NCIT:C4777	
GO:0051270	biolink:NamedThing	obsolete regulation of cellular component movement	OBSOLETE. Any process that modulates the frequency, rate or extent of the movement of a cellular component.		mondo.json	regulation of cellular component motion|regulation of cell movement	http://purl.obolibrary.org/obo/GO_0051270		
GO:0051271	biolink:NamedThing	obsolete negative regulation of cellular component movement	OBSOLETE. Any process that stops, prevents, or reduces the frequency, rate or extent of the movement of a cellular component.		mondo.json	negative regulation of cellular component motion	http://purl.obolibrary.org/obo/GO_0051271		
MONDO:0000624	biolink:Disease	benign female reproductive system neoplasm	A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor.	DOID:0060086|NCIT:C4934|UMLS:C0744514	mondo.json	benign female reproductive system neoplasm|benign gynecologic tumor|benign female reproductive system tumor|benign gynecologic neoplasm|female reproductive organ benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000624	DOID:0060086|UMLS:C0744514|NCIT:C4934	
HGNC:4138	biolink:NamedThing	GANAB			mondo.json		http://identifiers.org/hgnc/4138		
GO:0051276	biolink:NamedThing	chromosome organization	A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of chromosomes, structures composed of a very long molecule of DNA and associated proteins that carries hereditary information. This term covers covalent modifications at the molecular level as well as spatial relationships among the major components of a chromosome.		mondo.json	DNA packaging|nuclear genome maintenance|maintenance of genome integrity|chromosome organization and biogenesis|DNA condensation|chromosome organisation	http://purl.obolibrary.org/obo/GO_0051276		
HGNC:4137	biolink:NamedThing	GAN			mondo.json		http://identifiers.org/hgnc/4137		
HGNC:4136	biolink:NamedThing	GAMT			mondo.json		http://identifiers.org/hgnc/4136		
MONDO:0000629	biolink:Disease	cardiovascular organ benign neoplasm	A benign neoplasm that involves the cardiovascular system.	DOID:0060091	mondo.json	cardiovascular system benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000629	DOID:0060091	
HGNC:4135	biolink:NamedThing	GALT			mondo.json		http://identifiers.org/hgnc/4135		
MONDO:0000628	biolink:Disease	central nervous system organ benign neoplasm	A benign neoplasm that involves the central nervous system.	DOID:0060090	mondo.json	central nervous system benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000628	DOID:0060090	
MONDO:0000641	biolink:Disease	obsolete cerebellar medulloblastoma	OBSOLETE. A cerebellum cancer that begins in the lower part of the brain on the floor of the skull.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0000641		
MONDO:0000640	biolink:Disease	central nervous system primitive neuroectodermal neoplasm	A neuroectodermal tumor that involves the central nervous system.	DOID:0060103|NCIT:C5398|UMLS:CN201960	mondo.json	central nervous system primitive neuroectodermal neoplasm|CNS primitive neuroectodermal neoplasm|central nervous system neuroectodermal tumor|CNS primitive neuroectodermal tumor|central primitive neuroectodermal tumor|primitive neuroectodermal tumor of central nervous system|CNS PNET|central nervous system PNET|central nervous system primitive neuroectodermal tumor (WHO grade IV)|central nervous system primitive neuroectodermal tumor|central primitive neuroectodermal neoplasm	http://purl.obolibrary.org/obo/MONDO_0000640	NCIT:C5398|UMLS:CN201960|DOID:0060103	
CHEBI:28659	biolink:ChemicalSubstance	phosphorus atom			mondo.json	Phosphor|phosphorus|Phosphorus|P|fosforo|phosphore|15P|phosphorus	http://purl.obolibrary.org/obo/CHEBI_28659		
MONDO:0000645	biolink:Disease	fallopian tube benign neoplasm	A non-metastasizing neoplasm that arises from the fallopian tube. Representative examples include papilloma, adenofibroma, and leiomyoma.	DOID:0060111|Orphanet:180237|MedDRA:10053865|SCTID:92100009|UMLS:C0346190|NCIT:C4517	mondo.json	benign tumor of fallopian tube|fallopian tube neoplasm, benign|benign tumor of the fallopian tube|benign neoplasm of fallopian tube|benign neoplasm of the fallopian tube|benign fallopian tube tumor|benign fallopian tube neoplasm|fallopian tube tumor, benign|fallopian tube benign neoplasm|benign tumor of fallopian tubes	http://purl.obolibrary.org/obo/MONDO_0000645	DOID:0060111|NCIT:C4517|UMLS:C0346190|http://identifiers.org/snomedct/92100009|Orphanet:180237	ordo_disease
MONDO:0000644	biolink:Disease	cervical benign neoplasm	A non-metastasizing neoplasm that arises from the cervix. Representative examples include squamous papilloma, endocervical polyp, and rhabdomyoma.	DOID:0060110|UMLS:C0153997|SCTID:92056006|NCIT:C3607	mondo.json	benign tumor of uterine cervix|benign tumor of the cervix uteri|benign neoplasm of cervix uteri|benign tumor of the uterine cervix|benign neoplasm of uterine cervix|benign neoplasm of the cervix uteri|benign cervix uteri tumor|benign uterine cervix neoplasm|benign uterine cervix tumor|benign neoplasm of the uterine cervix|benign cervix uteri neoplasm|uterine cervix benign neoplasm|benign cervical neoplasm|benign tumor of cervix uteri	http://purl.obolibrary.org/obo/MONDO_0000644	DOID:0060110|http://identifiers.org/snomedct/92056006|NCIT:C3607|UMLS:C0153997	
MONDO:0000643	biolink:Disease	vulvar benign neoplasm	A non-metastasizing neoplasm that arises from the vulva. Representative examples include cellular angiofibroma, melanocytic nevus, nodular hidradenoma, and Bartholin gland adenoma.	NCIT:C3611|UMLS:C0154003|DOID:0060109|SCTID:92486005	mondo.json	benign vulvar tumor|benign vulvar neoplasm|mammalian vulva benign neoplasm|benign neoplasm of the vulva|benign neoplasm of vulva|benign vulva tumor|benign tumor of the vulva|benign tumor of vulva|benign vulva neoplasm|benign vulval neoplasm|vulva benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000643	DOID:0060109|UMLS:C0154003|NCIT:C3611|http://identifiers.org/snomedct/92486005	
MONDO:0000642	biolink:Disease	brain meningioma	A meningioma (disease) that involves the brain.	DOID:0060106	mondo.json	brain meningioma (disease)|meningioma (disease) of brain	http://purl.obolibrary.org/obo/MONDO_0000642	DOID:0060106	
MONDO:0012605	biolink:Disease	isolated microphthalmia 5	Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene.	Orphanet:251279|MESH:C567024|UMLS:C1970236|DOID:0060837|OMIM:611040	mondo.json	microphthalmia, isolated type 5|isolated microphthalmia caused by mutation in MFRP|Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome|isolated microphthalmia type 5|posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen|microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome|microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic Disc drusen|MCOP5|microphthalmia, isolated 5|isolated microphthalmia 5|MFRP isolated microphthalmia	http://purl.obolibrary.org/obo/MONDO_0012605	Orphanet:251279|DOID:0060837|https://omim.org/entry/611040|UMLS:C1970236|http://identifiers.org/mesh/C567024	ordo_disease
GO:2000830	biolink:NamedThing	positive regulation of parathyroid hormone secretion	Any process that activates or increases the frequency, rate or extent of parathyroid hormone secretion.		mondo.json	positive regulation of parathyrin secretion|positive regulation of parathormone secretion|positive regulation of PTH secretion	http://purl.obolibrary.org/obo/GO_2000830		
MONDO:0012606	biolink:Disease	mycobacterium tuberculosis, susceptibility to, 2		OMIM:611046	mondo.json	MTBS2|Mycobacterium tuberculosis, susceptibility to, type 2|mycobacterium tuberculosis, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0012606	https://omim.org/entry/611046	predisposition
GO:2000831	biolink:NamedThing	regulation of steroid hormone secretion	Any process that modulates the frequency, rate or extent of steroid hormone secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_2000831		
MONDO:0012603	biolink:Disease	episodic kinesigenic dyskinesia 2	A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1.	Orphanet:98809|MESH:C567026|OMIM:611031|DOID:0090054|UMLS:C1970238	mondo.json	episodic kinesigenic dyskinesia type 2|dystonia 19|EKD2|episodic kinesigenic dyskinesia 2	http://purl.obolibrary.org/obo/MONDO_0012603	DOID:0090054|https://omim.org/entry/611031|UMLS:C1970238|http://identifiers.org/mesh/C567026	
GO:2000832	biolink:NamedThing	negative regulation of steroid hormone secretion	Any process that stops, prevents or reduces the frequency, rate or extent of steroid hormone secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_2000832		
MONDO:0012604	biolink:Disease	isolated microphthalmia 3	Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene.	DOID:0060842|UMLS:C1970237|MESH:C567025|OMIM:611038	mondo.json	isolated microphthalmia caused by mutation in RAX|isolated microphthalmia caused by mutation in rax|RAX isolated microphthalmia|microphthalmia, isolated 3|rax isolated microphthalmia|MCOP3|isolated microphthalmia type 3|isolated microphthalmia 3|microphthalmia, isolated type 3	http://purl.obolibrary.org/obo/MONDO_0012604	DOID:0060842|UMLS:C1970237|https://omim.org/entry/611038|http://identifiers.org/mesh/C567025	
HGNC:11802	biolink:NamedThing	TIA1			mondo.json		http://identifiers.org/hgnc/11802		
GO:2000833	biolink:NamedThing	positive regulation of steroid hormone secretion	Any process that activates or increases the frequency, rate or extent of steroid hormone secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_2000833		
MONDO:0012609	biolink:Disease	Alzheimer disease 12	An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22.	OMIM:611073|UMLS:C1970209|MESH:C567022|DOID:0110045	mondo.json	Ad12|Alzheimer disease 12|Alzheimer disease, familial, 12|Alzheimer disease familial 12|Alzheimer's disease 12|AD12|Alzheimer's disease type 12|Alzheimer disease type 12	http://purl.obolibrary.org/obo/MONDO_0012609	http://identifiers.org/mesh/C567022|DOID:0110045|UMLS:C1970209|https://omim.org/entry/611073	
GO:2000834	biolink:NamedThing	regulation of androgen secretion	Any process that modulates the frequency, rate or extent of androgen secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_2000834		
NCBITaxon:2720871	biolink:OrganismalEntity	Aspergillus subgen. Circumdati		GC_ID:1|PMID:28082760	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2720871		
GO:2000835	biolink:NamedThing	negative regulation of androgen secretion	Any process that stops, prevents or reduces the frequency, rate or extent of androgen secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_2000835		
MONDO:0012607	biolink:Disease	asthma-related traits, susceptibility to, 5	Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the IRAK3 gene.	OMIM:611064	mondo.json	asthma-related traits, susceptibility to, 5|asthma susceptibility 5|IRAK3 inherited susceptibility to asthma|inherited susceptibility to asthma caused by mutation in IRAK3|asthma-related traits, susceptibility to, type 5|ASRT5	http://purl.obolibrary.org/obo/MONDO_0012607	https://omim.org/entry/611064	predisposition
GO:2000836	biolink:NamedThing	positive regulation of androgen secretion	Any process that activates or increases the frequency, rate or extent of androgen secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_2000836		
MONDO:0012608	biolink:Disease	autosomal recessive lower motor neuron disease with childhood onset	A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.	Orphanet:206580|OMIM:611067|MESH:C567023|UMLS:C1970211|DOID:0111213	mondo.json	distal spinal muscular atrophy type 4|autosomal recessive distal spinal muscular atrophy type 4|spinal muscular atrophy, distal, autosomal recessive, 4|dSMA4|spinal muscular atrophy, distal, autosomal recessive, type 4|DSMA4	http://purl.obolibrary.org/obo/MONDO_0012608	DOID:0111213|Orphanet:206580|https://omim.org/entry/611067|UMLS:C1970211|http://identifiers.org/mesh/C567023	ordo_disease
MONDO:0012612	biolink:Disease	intellectual disability, autosomal recessive 12		UMLS:C1970200|OMIM:611090|MESH:C567019	mondo.json	mental retardation, autosomal recessive 12|mental retardation, autosomal recessive type 12|MRT12|intellectual disability, autosomal recessive 12|intellectual disability, autosomal recessive type 12|intellectual developmental disorder, autosomal recessive 12	http://purl.obolibrary.org/obo/MONDO_0012612	UMLS:C1970200|https://omim.org/entry/611090|http://identifiers.org/mesh/C567019	
HGNC:11812	biolink:NamedThing	TRIM24			mondo.json		http://identifiers.org/hgnc/11812		
HGNC:11811	biolink:NamedThing	KLF11			mondo.json		http://identifiers.org/hgnc/11811		
CHEBI:16646	biolink:ChemicalSubstance	carbohydrate	Any member of the class of organooxygen compounds that is a polyhydroxy-aldehyde or -ketone or a lactol resulting from their intramolecular condensation (monosaccharides); substances derived from these by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom; and polymeric products arising by intermolecular acetal formation between two or more such molecules (disaccharides, polysaccharides and oligosaccharides). Carbohydrates contain only carbon, hydrogen and oxygen atoms; prior to any oxidation or reduction, most have the empirical formula Cm(H2O)n. Compounds obtained from carbohydrates by substitution, etc., are known as carbohydrate derivatives and may contain other elements. Cyclitols are generally not regarded as carbohydrates.		mondo.json	carbohidrato|glucides|hydrates de carbone|carbohidratos|carbohydrate|glucide|carbohydrates|saccharides|Kohlenhydrat|Kohlenhydrate|glucidos|a carbohydrate|glucido|saccharide|saccharidum	http://purl.obolibrary.org/obo/CHEBI_16646		
MONDO:0012613	biolink:Disease	intellectual disability, autosomal recessive 5	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene.	UMLS:C1970199|OMIM:611091|MESH:C567018	mondo.json	mental retardation, autosomal recessive type 5|NSUN2 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive type 5|intellectual disability, autosomal recessive 5|autosomal recessive non-syndromic intellectual disability caused by mutation in NSUN2|MRT5|mental retardation, autosomal recessive 5	http://purl.obolibrary.org/obo/MONDO_0012613	https://omim.org/entry/611091|UMLS:C1970199|http://identifiers.org/mesh/C567018	
MONDO:0012610	biolink:Disease	inflammatory bowel disease 10	Any inflammatory bowel disease in which the cause of the disease is a mutation in the ATG16L1 gene.	UMLS:C1970207|DOID:0110885|MESH:C567021|OMIM:611081	mondo.json	ATG16L1 inflammatory bowel disease|inflammatory bowel disease (Crohn disease) 10|inflammatory bowel disease 10|inflammatory bowel disease type 10|IBD10|inflammatory bowel disease caused by mutation in ATG16L1	http://purl.obolibrary.org/obo/MONDO_0012610	DOID:0110885|UMLS:C1970207|https://omim.org/entry/611081|http://identifiers.org/mesh/C567021	
MONDO:0012611	biolink:Disease	polyhydramnios, megalencephaly, and symptomatic epilepsy		Orphanet:500533|MESH:C567020|OMIM:611087|GARD:0012913|UMLS:C1970203	mondo.json	polyhydramnios-megalencephaly-symptomatic epilepsy syndrome|polyhydramnios, megalencephaly, and symptomatic epilepsy|PMSE syndrome|pretzel syndrome|PMSE|polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0012611	Orphanet:500533|https://omim.org/entry/611087|UMLS:C1970203|http://identifiers.org/mesh/C567020	ordo_disease
MONDO:0000638	biolink:Disease	benign glioma	A form of glioma without malignant characteristics.	DOID:0060101	mondo.json	glioma, benign	http://purl.obolibrary.org/obo/MONDO_0000638		
MONDO:0000637	biolink:Disease	musculoskeletal system cancer	A malignant neoplasm involving the musculoskeletal system	DOID:0060100	mondo.json	malignant neoplasm of musculoskeletal system|musculoskeletal system cancer|malignant musculoskeletal system neoplasm|cancer of musculoskeletal system|skeletal system cancer	http://purl.obolibrary.org/obo/MONDO_0000637	DOID:0060100	
MONDO:0000636	biolink:Disease	musculoskeletal system benign neoplasm	A benign neoplasm that involves the musculoskeletal system.	DOID:0060099	mondo.json	musculoskeletal system benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000636	DOID:0060099	
MONDO:0000635	biolink:Disease	obsolete osteoblastoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000635		
MONDO:0000639	biolink:Disease	cartilage cancer	A cancer involving a cartilage tissue.	DOID:0060102|GARD:0006004	mondo.json	cancer of cartilage tissue|cartilage tissue cancer|malignant cartilage tissue neoplasm|malignant neoplasm of cartilage tissue|cartilaginous cancer	http://purl.obolibrary.org/obo/MONDO_0000639	DOID:0060102	gard_rare
GO:2000849	biolink:NamedThing	regulation of glucocorticoid secretion	Any process that modulates the frequency, rate or extent of glucocorticoid secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_2000849		
MONDO:0000612	biolink:Disease	lymphatic system cancer	A malignant neoplasm involving the lymphatic part of lymphoid system	DOID:0060073	mondo.json	malignant neoplasm of lymphatic part of lymphoid system|lymphatic part of lymphoid system cancer|malignant lymphatic part of lymphoid system neoplasm|cancer of lymphatic part of lymphoid system	http://purl.obolibrary.org/obo/MONDO_0000612	DOID:0060073	
MONDO:0000611	biolink:Disease	pre-malignant neoplasm	A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.	DOID:0060071	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000611	DOID:0060071	
MONDO:0000610	biolink:Disease	marantic endocarditis	Formation of a non-infectious thrombus, referred to as vegetation, on previously undamaged endocardium. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see thrombophilia).	DOID:0060068|MESH:D059905|SCTID:57181007	mondo.json	nonbacterial thrombotic endocarditis|non-bacterial thrombotic endocarditis	http://purl.obolibrary.org/obo/MONDO_0000610	DOID:0060068|http://identifiers.org/snomedct/57181007|http://identifiers.org/mesh/D059905	
GO:2000843	biolink:NamedThing	regulation of testosterone secretion	Any process that modulates the frequency, rate or extent of testosterone secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_2000843		
GO:2000844	biolink:NamedThing	negative regulation of testosterone secretion	Any process that stops, prevents or reduces the frequency, rate or extent of testosterone secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_2000844		
GO:2000845	biolink:NamedThing	positive regulation of testosterone secretion	Any process that activates or increases the frequency, rate or extent of testosterone secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_2000845		
GO:2000846	biolink:NamedThing	regulation of corticosteroid hormone secretion	Any process that modulates the frequency, rate or extent of corticosteroid hormone secretion.		mondo.json	regulation of corticosteroid secretion	http://purl.obolibrary.org/obo/GO_2000846		
GO:2000847	biolink:NamedThing	negative regulation of corticosteroid hormone secretion	Any process that stops, prevents or reduces the frequency, rate or extent of corticosteroid hormone secretion.		mondo.json	negative regulation of corticosteroid secretion	http://purl.obolibrary.org/obo/GO_2000847		
GO:2000848	biolink:NamedThing	positive regulation of corticosteroid hormone secretion	Any process that activates or increases the frequency, rate or extent of corticosteroid hormone secretion.		mondo.json	positive regulation of corticosteroid secretion	http://purl.obolibrary.org/obo/GO_2000848		
MONDO:0012601	biolink:Disease	autism, susceptibility to, 10		OMIM:611016	mondo.json	autism, susceptibility to, 10|AUTS10	http://purl.obolibrary.org/obo/MONDO_0012601	https://omim.org/entry/611016	predisposition
MONDO:0012602	biolink:Disease	autosomal recessive nonsyndromic hearing loss 24	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene.	MESH:C567027|OMIM:611022|UMLS:C1970239|DOID:0110482	mondo.json	deafness, autosomal recessive type 24|deafness, autosomal recessive 24|autosomal recessive nonsyndromic deafness caused by mutation in RDX|autosomal recessive nonsyndromic deafness 24|DFNB24|autosomal recessive nonsyndromic deafness type 24|RDX autosomal recessive nonsyndromic deafness|autosomal recessive deafness 24	http://purl.obolibrary.org/obo/MONDO_0012602	DOID:0110482|UMLS:C1970239|https://omim.org/entry/611022|http://identifiers.org/mesh/C567027	
MONDO:0012600	biolink:Disease	autism, susceptibility to, 9		OMIM:611015	mondo.json	AUTS9|autism, susceptibility to, 9	http://purl.obolibrary.org/obo/MONDO_0012600	https://omim.org/entry/611015	predisposition
MONDO:0000605	biolink:Disease	hypersensitivity reaction disease	An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system.	NCIT:C3114|SCTID:473010000|EFO:1002003|DOID:0060056	mondo.json	sensitive|allergic reaction|hypersensitive|hypersensitivity reaction|sensitivity|hypersensitivity	http://purl.obolibrary.org/obo/MONDO_0000605	DOID:0060056|http://identifiers.org/snomedct/473010000|NCIT:C3114	
MONDO:0000604	biolink:Disease	obsolete autonomic peripheral neuropathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000604		
MONDO:0000603	biolink:Disease	autoimmune disorder of cardiovascular system	A hypersensitivity reaction type II disease that involves the cardiovascular system.	DOID:0060051	mondo.json	cardiovascular system hypersensitivity reaction type II disease|cardiovascular system autoimmune disease	http://purl.obolibrary.org/obo/MONDO_0000603	DOID:0060051	
MONDO:0000602	biolink:Disease	autoimmune disorder of blood	A hypersensitivity reaction type II disease that involves the blood.	DOID:0060050	mondo.json	blood autoimmune disease|blood hypersensitivity reaction type II disease	http://purl.obolibrary.org/obo/MONDO_0000602	DOID:0060050	
CHEBI:16670	biolink:ChemicalSubstance	peptide	Amide derived from two or more amino carboxylic acid molecules (the same or different) by formation of a covalent bond from the carbonyl carbon of one to the nitrogen atom of another with formal loss of water. The term is usually applied to structures formed from alpha-amino acids, but it includes those derived from any amino carboxylic acid. X = OH, OR, NH2, NHR, etc.		mondo.json	peptido|peptidos|peptides|Peptide|Peptid	http://purl.obolibrary.org/obo/CHEBI_16670		
CHEBI:41609	biolink:ChemicalSubstance	carbonate			mondo.json	Karbonat|[CO3](2-)|trioxidocarbonate(2-)|CO3(2-)|CARBONATE ION|carbonate	http://purl.obolibrary.org/obo/CHEBI_41609		
MONDO:0000609	biolink:Disease	obsolete sideroblastic anemia with spinocerebellar ataxia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000609		
MONDO:0000608	biolink:Disease	familial juvenile hyperuricemic nephropathy		UMLS:CN239392|OMIMPS:162000|GARD:0000067|SCTID:46785007|MESH:C537696|DOID:0060062	mondo.json	juvenile gout|tubulointerstitial kidney disease|FJHN|familial juvenile hyperuricemic nephropathy|nephropathy, familial, with gout|familial nephropathy associated with hyperuricemia|gouty nephropathy, familial juvenile|familial juvenile gouty nephropathy|juvenile gouty nephropathy|gouty nephropathy, familial|familial nephropathy with gout	http://purl.obolibrary.org/obo/MONDO_0000608	UMLS:CN239392|http://identifiers.org/mesh/C537696|http://identifiers.org/snomedct/46785007|https://omim.org/phenotypicSeries/PS162000|DOID:0060062	gard_rare
MONDO:0000607	biolink:Disease	primary cutaneous T-cell non-Hodgkin lymphoma	A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma.	NCIT:C3467|MESH:D016410|EFO:0002913|DOID:0060061|ICDO:9709/3	mondo.json	skin T-cell non-Hodgkin's lymphoma|PCTCL|CTCL|primary cutaneous T-cell non-Hodgkin's lymphoma|cutaneous T-cell non-Hodgkin's lymphoma|cutaneous T-cell lymphoma|T-cell non-Hodgkin's lymphoma of skin|cutaneous T cell lymphoma|primary cutaneous T-cell non-Hodgkin lymphoma|T-cell non-Hodgkin's lymphoma of the skin|cutaneous T-cell non-Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0000607	NCIT:C3467|DOID:0060061|http://identifiers.org/mesh/D016410	
MONDO:0000606	biolink:Disease	obsolete gluten allergy	OBSOLETE. A allergy involving gluten.	DOID:0060057	mondo.json	gluten allergic disease|allergy of gluten|gluten allergic reaction|allergy to gluten	http://purl.obolibrary.org/obo/MONDO_0000606	DOID:0060057	
MONDO:0000623	biolink:Disease	obsolete organ system benign neoplasm			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000623		
MONDO:0000622	biolink:Disease	obsolete cell type benign neoplasm			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000622		
MONDO:0000621	biolink:Disease	immune system cancer	A malignant neoplasm involving the immune system	DOID:0060083	mondo.json	cancer of immune system|immune system cancer|malignant immune system neoplasm|malignant neoplasm of immune system	http://purl.obolibrary.org/obo/MONDO_0000621	DOID:0060083	
MONDO:0000620	biolink:Disease	breast benign neoplasm	A non-metastasizing neoplasm arising from the breast parenchyma.	NCIT:C4505|DOID:0060082|SCTID:269485000|ICD9:217	mondo.json	benign tumor of breast|benign tumor of the breast|benign neoplasm of breast|benign neoplasm of the breast|benign breast tumor|breast benign neoplasm|benign breast neoplasm	http://purl.obolibrary.org/obo/MONDO_0000620	DOID:0060082|http://identifiers.org/snomedct/269485000|NCIT:C4505	
GO:2000855	biolink:NamedThing	regulation of mineralocorticoid secretion	Any process that modulates the frequency, rate or extent of mineralocorticoid secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_2000855		
GO:2000856	biolink:NamedThing	negative regulation of mineralocorticoid secretion	Any process that stops, prevents or reduces the frequency, rate or extent of mineralocorticoid secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_2000856		
GO:2000857	biolink:NamedThing	positive regulation of mineralocorticoid secretion	Any process that activates or increases the frequency, rate or extent of mineralocorticoid secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_2000857		
GO:2000858	biolink:NamedThing	regulation of aldosterone secretion	Any process that modulates the frequency, rate or extent of aldosterone secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_2000858		
GO:2000859	biolink:NamedThing	negative regulation of aldosterone secretion	Any process that stops, prevents or reduces the frequency, rate or extent of aldosterone secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_2000859		
HGNC:4166	biolink:NamedThing	GAS8			mondo.json		http://identifiers.org/hgnc/4166		
HGNC:4162	biolink:NamedThing	GARS1			mondo.json		http://identifiers.org/hgnc/4162		
GO:2000850	biolink:NamedThing	negative regulation of glucocorticoid secretion	Any process that stops, prevents or reduces the frequency, rate or extent of glucocorticoid secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_2000850		
GO:2000851	biolink:NamedThing	positive regulation of glucocorticoid secretion	Any process that activates or increases the frequency, rate or extent of glucocorticoid secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_2000851		
MONDO:0000616	biolink:Disease	progesterone-receptor negative breast cancer		DOID:0060078	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000616	DOID:0060078	
MONDO:0000615	biolink:Disease	progesterone-receptor positive breast cancer		DOID:0060077	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000615	DOID:0060077	
MONDO:0000614	biolink:Disease	obsolete estrogen-receptor negative breast cancer			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000614		
MONDO:0000613	biolink:Disease	obsolete estrogen-receptor positive breast cancer			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000613		
MONDO:0000619	biolink:Disease	obsolete triple-receptor negative breast cancer			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000619		
NCBITaxon:2	biolink:OrganismalEntity	Bacteria		PMID:10425795|PMID:8123559|PMID:11411719|GC_ID:11|PMID:11540071|PMID:11321083|PMID:9336922|PMID:9103655|PMID:11760965|PMID:10939677|PMID:8186100|PMID:8590690|PMID:12054223|PMID:7520741|PMID:10843050|PMID:2112744|PMID:11542017|PMID:11211268|PMID:10939673|PMID:10939651|PMID:11321113|PMID:10490293|PMID:10425797|PMID:10425796|PMID:11542087|PMID:270744	mondo.json	Prokaryotae|Prokaryota|prokaryotes|bacteria|Procaryotae|eubacteria|Monera|prokaryote	http://purl.obolibrary.org/obo/NCBITaxon_2		
MONDO:0000618	biolink:Disease	Her2-receptor negative breast cancer		SCTID:431396003|DOID:0060080|EFO:0009780|NCIT:C168519|UMLS:C4733095	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000618	http://identifiers.org/snomedct/431396003|DOID:0060080|NCIT:C168519|UMLS:C4733095	
MONDO:0000617	biolink:Disease	obsolete Her2-receptor positive breast cancer			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000617		
NCBITaxon:1	biolink:OrganismalEntity	root		GC_ID:1	mondo.json	all	http://purl.obolibrary.org/obo/NCBITaxon_1		
GO:0002225	biolink:NamedThing	positive regulation of antimicrobial peptide production	Any process that activates or increases the frequency, rate, or extent of antimicrobial peptide production.		mondo.json	up-regulation of antimicrobial peptide production|activation of antimicrobial peptide production|antimicrobial peptide induction|upregulation of antimicrobial peptide production|up regulation of antimicrobial peptide production|stimulation of antimicrobial peptide production	http://purl.obolibrary.org/obo/GO_0002225		
GO:0004888	biolink:NamedThing	transmembrane signaling receptor activity	Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction.		mondo.json	transmembrane signalling receptor activity|transmembrane receptor activity	http://purl.obolibrary.org/obo/GO_0004888		
GO:0004887	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0004887		
GO:0002228	biolink:NamedThing	natural killer cell mediated immunity	The promotion of an immune response by natural killer cells through direct recognition of target cells or through the release of cytokines.		mondo.json	NK cell mediated immunity	http://purl.obolibrary.org/obo/GO_0002228		
GO:0004882	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0004882		
GO:0016866	biolink:NamedThing	intramolecular transferase activity	Catalysis of the transfer of a functional group from one position to another within a single molecule.		mondo.json	mutase activity|intramolecular transferase activity, transferring other groups	http://purl.obolibrary.org/obo/GO_0016866		
GO:0016868	biolink:NamedThing	intramolecular transferase activity, phosphotransferases	Catalysis of the transfer of a phosphate group from one position to another within a single molecule.		mondo.json	phosphotransferase activity, with regeneration of donors, apparently catalyzing intramolecular transfers|phosphomutase activity	http://purl.obolibrary.org/obo/GO_0016868		
GO:0016860	biolink:NamedThing	intramolecular oxidoreductase activity	Catalysis of an oxidation-reduction (redox) reaction in which the hydrogen donor and acceptor are the same molecule, and no oxidized product appears.		mondo.json	intramolecular isomerase activity|intramolecular oxidoreductase activity, other intramolecular oxidoreductases	http://purl.obolibrary.org/obo/GO_0016860		
GO:0016861	biolink:NamedThing	intramolecular oxidoreductase activity, interconverting aldoses and ketoses	Catalysis of an oxidation-reduction (redox) reaction in which the hydrogen donor and acceptor, which is an aldose or a ketose, are the same molecule, and no oxidized product appears.		mondo.json	intramolecular isomerase activity, interconverting aldoses and ketoses	http://purl.obolibrary.org/obo/GO_0016861		
GO:0002232	biolink:NamedThing	leukocyte chemotaxis involved in inflammatory response	The movement of an immune cell in response to an external stimulus contributing to an inflammatory response.		mondo.json	leukocyte chemotaxis during inflammatory response|immune cell chemotaxis during inflammatory response|leucocyte chemotaxis during inflammatory response	http://purl.obolibrary.org/obo/GO_0002232		
GO:0002233	biolink:NamedThing	leukocyte chemotaxis involved in immune response	The movement of an immune cell in response to an external stimulus a part of an immune response.		mondo.json	immune cell chemotaxis during immune response|leucocyte chemotaxis during immune response	http://purl.obolibrary.org/obo/GO_0002233		
GO:0004896	biolink:NamedThing	cytokine receptor activity	Combining with a cytokine and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.		mondo.json	IL receptor|interleukin receptor activity|hematopoietin/interferon-class (D200-domain) cytokine receptor activity	http://purl.obolibrary.org/obo/GO_0004896		
GO:0016879	biolink:NamedThing	ligase activity, forming carbon-nitrogen bonds	Catalysis of the joining of two molecules, or two groups within a single molecule, via a carbon-nitrogen bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate.		mondo.json	other carbon-nitrogen ligase activity	http://purl.obolibrary.org/obo/GO_0016879		
GO:0016874	biolink:NamedThing	ligase activity	Catalysis of the joining of two molecules, or two groups within a single molecule, using the energy from the hydrolysis of ATP, a similar triphosphate, or a pH gradient.		mondo.json	synthetase activity	http://purl.obolibrary.org/obo/GO_0016874		
GO:0004866	biolink:NamedThing	endopeptidase inhibitor activity	Binds to and stops, prevents or reduces the activity of an endopeptidase, any enzyme that hydrolyzes nonterminal peptide bonds in polypeptides.		mondo.json	endoproteinase inhibitor|proteinase inhibitor|alpha-2 macroglobulin	http://purl.obolibrary.org/obo/GO_0004866		
ENVO:01001305	biolink:NamedThing	vegetated area	A vegetated area is a geographic feature which has ground cover dominated by plant communities.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001305		
GO:0002204	biolink:NamedThing	somatic recombination of immunoglobulin genes involved in immune response	The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, also known as immunoglobulin gene segments, within a single locus following the induction of and contributing to an immune response.		mondo.json	somatic recombination of immunoglobulin genes during immune response|somatic recombination of antibody genes during immune response	http://purl.obolibrary.org/obo/GO_0002204		
ENVO:01001307	biolink:NamedThing	partially_surrounded_by	x partially_surrounded_by y if and only if (1) x is adjacent to y and for the region r that is adjacent to x, r partially overlaps y (2) the shared boundary between x and y occupies  a non-trivial proportion of the outermost boundary of x		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001307		
GO:0004867	biolink:NamedThing	serine-type endopeptidase inhibitor activity	Binds to and stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme.		mondo.json	serine proteinase inhibitor activity|serine protease inhibitor activity|serpin activity	http://purl.obolibrary.org/obo/GO_0004867		
GO:0002200	biolink:NamedThing	somatic diversification of immune receptors	The somatic process allowing for the production of immune receptors whose specificity is not encoded in the germline genomic sequences.		mondo.json		http://purl.obolibrary.org/obo/GO_0002200		
GO:0004860	biolink:NamedThing	protein kinase inhibitor activity	Binds to and stops, prevents or reduces the activity of a protein kinase, an enzyme which phosphorylates a protein.		mondo.json		http://purl.obolibrary.org/obo/GO_0004860		
ENVO:01001309	biolink:NamedThing	liquid air-water interface layer	A liquid surface layer which is in contact with air.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001309		
ENVO:01001308	biolink:NamedThing	hydroform	A geographic feature which is primarily composed of a continuous volume of liquid water held in shape or sustained by an environmental process.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001308		
GO:0016840	biolink:NamedThing	carbon-nitrogen lyase activity	Catalysis of the release of ammonia or one of its derivatives, with the formation of a double bond or ring. Enzymes with this activity may catalyze the actual elimination of the ammonia, amine or amide, e.g. CH-CH(-NH-R) = C=CH- + NH2-R. Others, however, catalyze elimination of another component, e.g. water, which is followed by spontaneous reactions that lead to breakage of the C-N bond, e.g. L-serine ammonia-lyase (EC:4.3.1.17), so that the overall reaction is C(-OH)-CH(-NH2) = CH2-CO- + NH3, i.e. an elimination with rearrangement. The sub-subclasses of EC:4.3 are the ammonia-lyases (EC:4.3.1), lyases acting on amides, amidines, etc. (EC:4.3.2), the amine-lyases (EC:4.3.3), and other carbon-nitrogen lyases (EC:4.3.99).		mondo.json	other carbon-nitrogen lyase activity	http://purl.obolibrary.org/obo/GO_0016840		
GO:0016842	biolink:NamedThing	amidine-lyase activity	Catalysis of the release of amides or amidines by the cleavage of a carbon-nitrogen bond or the reverse reaction with an amide or amidine as a substrate.		mondo.json		http://purl.obolibrary.org/obo/GO_0016842		
GO:0002208	biolink:NamedThing	somatic diversification of immunoglobulins involved in immune response	The somatic process that results in the generation of sequence diversity of immunoglobulins after induction, and contributes to an immune response.		mondo.json	somatic diversification of antibodies during immune response|somatic diversification of immunoglobulins during immune response	http://purl.obolibrary.org/obo/GO_0002208		
GO:0004879	biolink:NamedThing	nuclear receptor activity	A DNA-binding transcription factor activity regulated by binding to a ligand that modulates the transcription of specific gene sets transcribed by RNA polymerase II. Nuclear receptor ligands are usually lipid-based (such as a steroid hormone) and the binding of the ligand to its receptor often occurs in the cytoplasm, which leads to its tranlocation to the nucleus.		mondo.json	ligand-dependent transcription factor activity|calcitriol receptor activity|vitamin A receptor activity|9-cis retinoic acid receptor activity|estrogen nuclear receptor activity|juvenile hormone receptor activity|thyroid hormone receptor activity|nuclear hormone receptor|retinoid-X receptor activity|RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding|vitamin D3 receptor activity|ecdysteroid hormone receptor activity|androgen receptor activity|ligand-dependent nuclear receptor activity|retinoic acid receptor activity|1,25-(OH)2D3 receptor activity|RXR|RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding|RNA polymerase II transcription factor activity, glucocorticoid-activated sequence-specific DNA binding|vitamin D receptor activity|glucocorticoid receptor activity|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity	http://purl.obolibrary.org/obo/GO_0004879		
GO:0004872	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0004872		
GO:0004875	biolink:NamedThing	complement receptor activity	Combining with any component or product of the complement cascade and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.		mondo.json	anaphylatoxin receptor activity	http://purl.obolibrary.org/obo/GO_0004875		
CL:0011115	biolink:Cell	precursor cell	A cell that, by division or terminal differentiation, can give rise to other cell types.		mondo.json		http://purl.obolibrary.org/obo/CL_0011115		
GO:0004871	biolink:NamedThing	obsolete signal transducer activity	OBSOLETE. Conveys a signal across a cell to trigger a change in cell function or state. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response.		mondo.json	hematopoietin/interferon-class (D200-domain) cytokine receptor signal transducer activity|quorum sensing signal generator activity|quorum sensing response regulator activity	http://purl.obolibrary.org/obo/GO_0004871		
CL:0011111	biolink:Cell	gonadotropin releasing neuron	Neuroendocrine cells that are born in the nasal placode during embryonic development and migrate through the nose and forebrain to the hypothalamus, where they regulate reproduction.		mondo.json	GnRH neuron|GnRH-secreting neuron	http://purl.obolibrary.org/obo/CL_0011111		
HGNC:6700	biolink:NamedThing	LRP8			mondo.json		http://identifiers.org/hgnc/6700		
HGNC:6701	biolink:NamedThing	LRPAP1			mondo.json		http://identifiers.org/hgnc/6701		
GO:0016853	biolink:NamedThing	isomerase activity	Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5.		mondo.json	other isomerase activity	http://purl.obolibrary.org/obo/GO_0016853		
GO:0016854	biolink:NamedThing	racemase and epimerase activity	Catalysis of a reaction that alters the configuration of one or more chiral centers in a molecule.		mondo.json	racemase and epimerase activity, acting on other compounds	http://purl.obolibrary.org/obo/GO_0016854		
HGNC:6708	biolink:NamedThing	LSS			mondo.json		http://identifiers.org/hgnc/6708		
CL:0011101	biolink:Cell	chorionic trophoblast cell	Cells of the uterine chorion that acquire specialized structural and/or functional features that characterize chorionic trophoblasts. These cells will migrate towards the spongiotrophoblast layer and give rise to syncytiotrophoblasts of the labyrinthine layer.		mondo.json		http://purl.obolibrary.org/obo/CL_0011101		
GO:0016826	biolink:NamedThing	hydrolase activity, acting on acid sulfur-nitrogen bonds	Catalysis of the hydrolysis of any acid sulfur-nitrogen bond.		mondo.json	hydrolase activity, acting on acid sulphur-nitrogen bonds	http://purl.obolibrary.org/obo/GO_0016826		
HGNC:6709	biolink:NamedThing	LTA			mondo.json		http://identifiers.org/hgnc/6709		
GO:0016829	biolink:NamedThing	lyase activity	Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring.		mondo.json	other lyase activity	http://purl.obolibrary.org/obo/GO_0016829		
MONDO:0034099	biolink:Disease	SYNGAP1-related developmental and epileptic encephalopathy	A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD).	Orphanet:544254	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034099	Orphanet:544254	ordo_disease
GO:0016825	biolink:NamedThing	hydrolase activity, acting on acid phosphorus-nitrogen bonds	Catalysis of the hydrolysis of any acid phosphorus-nitrogen bond.		mondo.json		http://purl.obolibrary.org/obo/GO_0016825		
CL:0011108	biolink:Cell	colon epithelial cell	Epithelial cell that is part of the colon epithelium.		mondo.json	colonic epithelial cell	http://purl.obolibrary.org/obo/CL_0011108		
MONDO:0034092	biolink:Disease	optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome		Orphanet:543470	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034092	Orphanet:543470	ordo_disease
HGNC:6715	biolink:NamedThing	LTBP2			mondo.json		http://identifiers.org/hgnc/6715		
GO:0004857	biolink:NamedThing	enzyme inhibitor activity	Binds to and stops, prevents or reduces the activity of an enzyme.		mondo.json	metalloenzyme inhibitor activity	http://purl.obolibrary.org/obo/GO_0004857		
NCBITaxon:51291	biolink:OrganismalEntity	Chlamydiales		PMID:16079343|PMID:10319462|PMID:26179278|PMID:11211265|PMID:25634949|GC_ID:11|PMID:10826799	mondo.json	chlamydias	http://purl.obolibrary.org/obo/NCBITaxon_51291		
HGNC:6716	biolink:NamedThing	LTBP3			mondo.json		http://identifiers.org/hgnc/6716		
HGNC:6717	biolink:NamedThing	LTBP4			mondo.json		http://identifiers.org/hgnc/6717		
HGNC:6719	biolink:NamedThing	LTC4S			mondo.json		http://identifiers.org/hgnc/6719		
GO:0016835	biolink:NamedThing	carbon-oxygen lyase activity	Catalysis of the breakage of a carbon-oxygen bond.		mondo.json	other carbon-oxygen lyase activity	http://purl.obolibrary.org/obo/GO_0016835		
GO:0016836	biolink:NamedThing	hydro-lyase activity	Catalysis of the cleavage of a carbon-oxygen bond by elimination of water.		mondo.json		http://purl.obolibrary.org/obo/GO_0016836		
GO:0016830	biolink:NamedThing	carbon-carbon lyase activity	Catalysis of the cleavage of C-C bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond.		mondo.json	other carbon-carbon lyase activity	http://purl.obolibrary.org/obo/GO_0016830		
GO:0016831	biolink:NamedThing	carboxy-lyase activity	Catalysis of the nonhydrolytic addition or removal of a carboxyl group to or from a compound.		mondo.json	decarboxylase activity	http://purl.obolibrary.org/obo/GO_0016831		
GO:0016832	biolink:NamedThing	aldehyde-lyase activity	Catalysis of the cleavage of a C-C bond in a molecule containing a hydroxyl group and a carbonyl group to form two smaller molecules, each being an aldehyde or a ketone.		mondo.json	aldolase activity	http://purl.obolibrary.org/obo/GO_0016832		
GO:0051216	biolink:NamedThing	cartilage development	The process whose specific outcome is the progression of a cartilage element over time, from its formation to the mature structure. Cartilage elements are skeletal elements that consist of connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate.		mondo.json	chondrogenesis|cartilage organ development|cartilage biogenesis|cartilage element development|cartilage biosynthesis|cartilage formation	http://purl.obolibrary.org/obo/GO_0051216		
NCIT:C12219	biolink:NamedThing	Anatomic Structure, System, or Substance			mondo.json		http://purl.obolibrary.org/obo/NCIT_C12219		http://purl.obolibrary.org/obo/NCIT_C90259
UBERON:0008522	biolink:AnatomicalEntity	nasal muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008522		
CHR:9606-chr21q22.13-q22.2	biolink:NamedThing	21q22.13-q22.2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr21q22.13-q22.2		
GO:0051223	biolink:NamedThing	regulation of protein transport	Any process that modulates the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0051223		
GO:0051224	biolink:NamedThing	negative regulation of protein transport	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	inhibition of protein transport|downregulation of protein transport|down-regulation of protein transport|down regulation of protein transport	http://purl.obolibrary.org/obo/GO_0051224		
GO:0016817	biolink:NamedThing	hydrolase activity, acting on acid anhydrides	Catalysis of the hydrolysis of any acid anhydride.		mondo.json	hydrolase activity, acting on acid anhydrides, involved in cellular and subcellular movement	http://purl.obolibrary.org/obo/GO_0016817		
GO:0016818	biolink:NamedThing	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	Catalysis of the hydrolysis of any acid anhydride which contains phosphorus.		mondo.json		http://purl.obolibrary.org/obo/GO_0016818		
HGNC:6741	biolink:NamedThing	LZTFL1			mondo.json		http://identifiers.org/hgnc/6741		
GO:0016811	biolink:NamedThing	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a linear amide.		mondo.json		http://purl.obolibrary.org/obo/GO_0016811		
HGNC:6742	biolink:NamedThing	LZTR1			mondo.json		http://identifiers.org/hgnc/6742		
GO:0016812	biolink:NamedThing	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a cyclic amide.		mondo.json		http://purl.obolibrary.org/obo/GO_0016812		
GO:0016814	biolink:NamedThing	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines	Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a cyclic amidine, a compound of the form R-C(=NH)-NH2.		mondo.json		http://purl.obolibrary.org/obo/GO_0016814		
GO:0016810	biolink:NamedThing	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	Catalysis of the hydrolysis of any carbon-nitrogen bond, C-N, with the exception of peptide bonds.		mondo.json	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in other compounds	http://purl.obolibrary.org/obo/GO_0016810		
GO:0051222	biolink:NamedThing	positive regulation of protein transport	Any process that activates or increases the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	up-regulation of protein transport|up regulation of protein transport|activation of protein transport|stimulation of protein transport|upregulation of protein transport	http://purl.obolibrary.org/obo/GO_0051222		
HGNC:6740	biolink:NamedThing	LYZ			mondo.json		http://identifiers.org/hgnc/6740		
MONDO:0022067	biolink:Disease	Cantu sanchez-corona fragoso syndrome		MESH:C535571|UMLS:C2930937|GARD:0001081	mondo.json	severe mental deficiency, proportionate dwarfism, and delayed sexual maturation|severe mental deficiency proportionate dwarfism and delayed sexual maturation	http://purl.obolibrary.org/obo/MONDO_0022067	UMLS:C2930937|http://identifiers.org/mesh/C535571	gard_rare
HP:0011376	biolink:PhenotypicFeature	Morphological abnormality of the vestibule of the inner ear	A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals.	UMLS:C0542259	mondo.json	Vestibular abnormality	http://purl.obolibrary.org/obo/HP_0011376		
ENVO:01001367	biolink:NamedThing	primary aerosol formation process	A material transport process during which solid or liquid particles are directly introduced into a volume of gas.		mondo.json	primary aerosol formation	http://purl.obolibrary.org/obo/ENVO_01001367		
ENVO:01001366	biolink:NamedThing	aerosolised particle formation process	A process during which particles suspended in a gaseous medium are formed.		mondo.json	new particle formation process	http://purl.obolibrary.org/obo/ENVO_01001366		
MONDO:0022060	biolink:Disease	calloso-genital dysplasia		UMLS:C2931677|MESH:C537962|GARD:0001055	mondo.json	primary amenorrhoea with coloboma and total agenesis of the corpus callosum	http://purl.obolibrary.org/obo/MONDO_0022060	UMLS:C2931677|http://identifiers.org/mesh/C537962	gard_rare
MONDO:0009089	biolink:Disease	deafness-oligodontia syndrome	Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.	GARD:0001698|Orphanet:3230|UMLS:C1857333|MESH:C538049|OMIM:221740	mondo.json	deafness oligodontia syndrome|deafness-oligodontia syndrome|autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia|congenital profound sensorineural deafness and oligodontia	http://purl.obolibrary.org/obo/MONDO_0009089	UMLS:C1857333|https://omim.org/entry/221740|Orphanet:3230|http://identifiers.org/mesh/C538049	ordo_malformation_syndrome|gard_rare
MONDO:0010088	biolink:Disease	mucosulfatidosis	Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.	Orphanet:585|NCIT:C84908|OMIM:272200|GARD:0005061|SCTID:54898003|UMLS:C0268263|MESH:D052517|DOID:0050441	mondo.json	sulfatidosis juvenile, Austin type|mucosulfatidosis|juvenile sulfatidosis, Austin type|sulfatidosis, juvenile, Austin type|multiple sulfatase deficiency disease|multiple sulfatase deficiency|juvenile sulfatidosis|MSD	http://purl.obolibrary.org/obo/MONDO_0010088	http://identifiers.org/mesh/D052517|http://identifiers.org/snomedct/54898003|UMLS:C0268263|NCIT:C84908|https://omim.org/entry/272200|DOID:0050441|Orphanet:585	ordo_disease
MONDO:0009088	biolink:Disease	deafness, neural, with atypical atopic dermatitis		UMLS:C1857334|MESH:C565639|OMIM:221700	mondo.json	deafness, neural, with atypical atopic dermatitis	http://purl.obolibrary.org/obo/MONDO_0009088	http://identifiers.org/mesh/C565639|https://omim.org/entry/221700|UMLS:C1857334	
NCBITaxon:28901	biolink:OrganismalEntity	Salmonella enterica		PMID:10319519|PMID:15653929|GC_ID:11|PMID:10939679|PMID:15653930	mondo.json	Salmonella cholerae-suis|Bacillus cholerae-suis|Salmonella enterica ser. choleraesuis|Salmonella choleraesuis	http://purl.obolibrary.org/obo/NCBITaxon_28901		
MONDO:0010087	biolink:Disease	Sugarman brachydactyly	Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982.	GARD:0005058|OMIM:272150|Orphanet:498602|DOID:0110979	mondo.json	brachydactyly with Major proximal phalangeal shortening|Sugarman brachydactyly|brachydactyly of the hands and feet with duplication of the first toes|Sugarman-Hager-Kulik syndrome|brachydactyly with major proximal phalangeal shortening	http://purl.obolibrary.org/obo/MONDO_0010087	DOID:0110979|Orphanet:498602|https://omim.org/entry/272150	gard_rare|ordo_morphological_anomaly
MONDO:0009087	biolink:Disease	deafness, neural, congenital moderate		UMLS:C1857337|MESH:C565640|OMIM:221500	mondo.json	deafness, neural, congenital moderate	http://purl.obolibrary.org/obo/MONDO_0009087	http://identifiers.org/mesh/C565640|https://omim.org/entry/221500|UMLS:C1857337	
MONDO:0034054	biolink:Disease	severe combined immunodeficiency due to CD70 deficiency		Orphanet:538958|OMIM:618261	mondo.json	lymphoproliferative syndrome 3	http://purl.obolibrary.org/obo/MONDO_0034054	https://omim.org/entry/618261|Orphanet:538958	ordo_disease
MONDO:0009086	biolink:Disease	deafness-small bowel diverticulosis-neuropathy syndrome	Deafness-small bowel diverticulosis-neuropathy syndrome is characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis).	GARD:0002568|UMLS:C1857338|MESH:C537305|Orphanet:3217|OMIM:221400|SCTID:733071009	mondo.json	deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy|Groll-Hirschowitz syndrome|nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy|Groll Hirschowitz syndrome	http://purl.obolibrary.org/obo/MONDO_0009086	https://omim.org/entry/221400|Orphanet:3217|http://identifiers.org/snomedct/733071009|UMLS:C1857338|http://identifiers.org/mesh/C537305	ordo_disease
MONDO:0009085	biolink:Disease	deafness-vitiligo-achalasia syndrome	Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.	MESH:C565642|UMLS:C1857339|OMIM:221350|Orphanet:3239|GARD:0001705	mondo.json	deafness vitiligo achalasia|deafness, congenital, with vitiligo and achalasia|congenital deafness with vitiligo and achalasia	http://purl.obolibrary.org/obo/MONDO_0009085	http://identifiers.org/mesh/C565642|https://omim.org/entry/221350|Orphanet:3239|UMLS:C1857339	ordo_malformation_syndrome|gard_rare
MONDO:0010089	biolink:Disease	isolated sulfite oxidase deficiency		OMIM:272300|SCTID:367368009|MESH:C538141|GARD:0005062|DOID:0111270|Orphanet:99731	mondo.json	ISOD|sulfocysteinuria|Sulfocysteinuria|isolated sulfite oxidase deficiency|sulfite oxidase deficiency|sulfite oxidase deficiency, isolated	http://purl.obolibrary.org/obo/MONDO_0010089	http://identifiers.org/snomedct/367368009|http://identifiers.org/mesh/C538141|https://omim.org/entry/272300|Orphanet:99731|DOID:0111270	ordo_clinical_subtype
MONDO:0009084	biolink:Disease	conductive deafness-ptosis-skeletal anomalies syndrome	Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.	SCTID:763213001|MESH:C535993|UMLS:C1857340|Orphanet:3236|GARD:0000305|OMIM:221320	mondo.json	Jackson Barr syndrome|Jackson-Barr syndrome|deafness, conductive, with ptosis and skeletal anomalies|deafness conductive ptosis skeletal anomalies	http://purl.obolibrary.org/obo/MONDO_0009084	http://identifiers.org/snomedct/763213001|http://identifiers.org/mesh/C535993|https://omim.org/entry/221320|Orphanet:3236|UMLS:C1857340	ordo_malformation_syndrome
MONDO:0009083	biolink:Disease	conductive deafness-malformed external ear syndrome		UMLS:C1857341|GARD:0001460|Orphanet:3216|OMIM:221300|MESH:C565644	mondo.json	Mengel-Konigsmark syndrome|Ear deformity and conductive hearing loss|conductive deafness - malformed external ear|familial congenital moderate neural hearing loss|deafness, conductive, with malformed external EAR|conductive deafness with malformed external ear|conductive hearing loss and malformed low-set ears|conductive hearing loss-malformed external ear syndrome	http://purl.obolibrary.org/obo/MONDO_0009083	http://identifiers.org/mesh/C565644|https://omim.org/entry/221300|Orphanet:3216|UMLS:C1857341	ordo_malformation_syndrome
MONDO:0009082	biolink:Disease	high myopia-sensorineural deafness syndrome	High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.	UMLS:CN204687|SCTID:720506002|Orphanet:363396|GARD:0012844|OMIM:221200|DOID:0111628	mondo.json	deafness and myopia|high myopia-sensorineural deafness syndrome|deafness and myopia syndrome|DFNMYP	http://purl.obolibrary.org/obo/MONDO_0009082	DOID:0111628|https://omim.org/entry/221200|http://identifiers.org/snomedct/720506002|UMLS:CN204687|Orphanet:363396	ordo_disease
MONDO:0009081	biolink:Disease	deafness, congenital, with total albinism		OMIM:220900|UMLS:C1857343|MESH:C565646	mondo.json	deafness, congenital, with total albinism	http://purl.obolibrary.org/obo/MONDO_0009081	http://identifiers.org/mesh/C565646|https://omim.org/entry/220900|UMLS:C1857343	
MONDO:0009080	biolink:Disease	split hand-foot malformation 1 with sensorineural hearing loss	Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.	OMIM:220600|Orphanet:71271|SCTID:723611008|UMLS:C1857344|MESH:C565647|DOID:0090024	mondo.json	split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive|deafness, congenital, with split hands and feet|congenital deafness with split hands and feet|split hand-split foot-deafness syndrome|SHFM1D|split-hand/foot malformation 1 with sensorineural hearing loss|split hand-foot malformation 1 with sensorineural hearing loss	http://purl.obolibrary.org/obo/MONDO_0009080	Orphanet:71271|DOID:0090024|http://identifiers.org/mesh/C565647|https://omim.org/entry/220600|UMLS:C1857344|http://identifiers.org/snomedct/723611008	ordo_malformation_syndrome
MONDO:0010080	biolink:Disease	familial infantile bilateral striatal necrosis	The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.	Orphanet:225154|UMLS:CN201303|GARD:0010665|OMIM:271930	mondo.json	familial infantile striatonigral necrosis|infantile bilateral striatal necrosis|bilateral striatal Necrosis, infantile|FBSN|SNDI|hereditary infantile bilateral striatal necrosis|familial bilateral striatal necrosis|striatal degeneration, familial|familial infantile striatonigral degeneration|striatonigral degeneration, infantile|familial IBSN	http://purl.obolibrary.org/obo/MONDO_0010080	Orphanet:225154|https://omim.org/entry/271930	gard_rare|ordo_clinical_subtype
MONDO:0010082	biolink:Disease	subaortic stenosis-short stature syndrome		GARD:0000405|Orphanet:3191|MESH:C537749|UMLS:C0795947|OMIM:271960	mondo.json	subaortic stenosis short stature syndrome|Onat syndrome|subaortic stenosis--short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0010082	Orphanet:3191|UMLS:C0795947|http://identifiers.org/mesh/C537749|https://omim.org/entry/271960	ordo_malformation_syndrome|gard_rare
MONDO:0010081	biolink:Disease	subaortic stenosis, membranous		MESH:C564793|OMIM:271950	mondo.json	subaortic stenosis, membranous	http://purl.obolibrary.org/obo/MONDO_0010081	https://omim.org/entry/271950|http://identifiers.org/mesh/C564793	
MONDO:0010084	biolink:Disease	sucrosuria, hiatus hernia and intellectual disability		OMIM:272000|UMLS:C1848963|MESH:C564792	mondo.json	sucrosuria, hiatus hernia and mental retardation|sucrosuria, hiatus hernia and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010084	UMLS:C1848963|https://omim.org/entry/272000|http://identifiers.org/mesh/C564792	
MONDO:0010083	biolink:Disease	succinic semialdehyde dehydrogenase deficiency	Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.	UMLS:C0268631|OMIM:271980|GARD:0007695|MESH:C535803|Orphanet:22|SCTID:49748000|DOID:0060175	mondo.json	4-hydroxybutyric aciduria|GABA metabolic defect|Ssadh deficiency|SSADH deficiency|SSADH|SSADHD|gamma-hydroxybutyric aciduria|succinic semialdehyde dehydrogenase deficiency|gamma-hydroxybutyricaciduria	http://purl.obolibrary.org/obo/MONDO_0010083	Orphanet:22|UMLS:C0268631|http://identifiers.org/snomedct/49748000|https://omim.org/entry/271980|DOID:0060175|http://identifiers.org/mesh/C535803	gard_rare|ordo_disease
MONDO:0010086	biolink:Disease	obsolete sudden infant death syndrome	OBSOLETE. Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendationsfor risk reduction. Please click on the link to access this resource.	ICD10WHO:R95|MESH:D013398|SCTID:51178009|DOID:9007|EFO:0005303|OMIM:272120|UMLS:C0038644|GARD:0007711|NCIT:C85173|ICD9:798.0|MedDRA:10042439	mondo.json	sudden infant death syndrome|sudden infant death syndrome (finding)|sudden death of nonspecific cause in infancy|cot death (context-dependent category)|Crib death (context-dependent category)|Sids|crib death|sudden infant death syndrome (context-dependent category)|SIDS|sudden infant death syndrome NOS (context-dependent category)|cot death|sudden infant death syndrome, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0010086	https://omim.org/entry/272120|http://identifiers.org/mesh/D013398|http://identifiers.org/snomedct/51178009|UMLS:C0038644|https://icd.who.int/browse10/2019/en#/R95|NCIT:C85173|DOID:9007	gard_rare
MONDO:0010085	biolink:Disease	Schilder disease	Schilder's disease is a progressive demyelinating disorder of the central nervous system.	Orphanet:59298|OMIM:272100|SCTID:49692006|UMLS:C0007795|ICD9:341.1	mondo.json	Schilder disease|Schilder's disease|SUDANOPHILIC cerebral sclerosis|Myelinoclastic diffuse sclerosis	http://purl.obolibrary.org/obo/MONDO_0010085	http://identifiers.org/snomedct/49692006|Orphanet:59298|https://omim.org/entry/272100|UMLS:C0007795	ordo_disease
HP:0011362	biolink:PhenotypicFeature	Abnormal hair quantity	An abnormal amount of hair.	UMLS:C4023401|UMLS:C4023397	mondo.json	Abnormality of hair density|Abnormal hair quantity	http://purl.obolibrary.org/obo/HP_0011362		
MONDO:0022055	biolink:Disease	Calabro syndrome		MESH:C537960|UMLS:C0796276|GARD:0008584	mondo.json	craniosynostosis, limb abnormalities, brevicollis, micrognathia, pulmonary stenosis, and genital defects	http://purl.obolibrary.org/obo/MONDO_0022055	UMLS:C0796276|http://identifiers.org/mesh/C537960	gard_rare
MONDO:0022057	biolink:Disease	calcifying epithelial odontogenic tumor	A slow growing, locally invasive neoplasm arising from tooth-forming tissues. It most often grows intraosseously in the mandible and less frequently in the maxilla. In a minority of cases it grows extraosseously in the gingiva. It is characterized by the presence of a fibrous stroma, epithelial cells with abundant eosinophilic cytoplasm, and amyloid material which is often calcified. Small tumors may be successfully treated with enucleation. Local resection is usually required for larger tumors. Recurrences have been reported in a minority of cases.	MESH:C537961|UMLS:C0334574|GARD:0006256|NCIT:C54301|ICDO:9340/0	mondo.json	CEOT|calcifying epithelial odontogenic tumor|Pindborg tumor	http://purl.obolibrary.org/obo/MONDO_0022057	NCIT:C54301|UMLS:C0334574|http://identifiers.org/mesh/C537961	gard_rare
HP:0011368	biolink:PhenotypicFeature	Epidermal thickening	Thickening of the epidermal layer of the skin.	UMLS:C4020752|UMLS:C0494876	mondo.json	Abnormality of keratinization	http://purl.obolibrary.org/obo/HP_0011368		
ENVO:01001357	biolink:NamedThing	desert	A landform which has been rendered barren or partially barren by environmental extremes, especially by low rainfall.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001357		
MONDO:0010077	biolink:Disease	spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.	OMIM:271665|UMLS:C1849011|GARD:0010616|Orphanet:93358|MESH:C564794	mondo.json	spondyloepimetaphyseal dysplasia - short limb - abnormal calcification|Smed, short limb-hand type|Smed, short limb-abnormal calcification type|SMED short limb-hand type|Smed-SL|Smed short limb-abnormal calcification type|spondylometaepiphyseal dysplasia short limb-hand type|Smed, type 2|spondylometaepiphyseal dysplasia short limb-abnormal calcification type|SMED type 2|spondylometaepiphyseal dysplasia, short limb-hand type|Smed-SL/Ac|spondylometaepiphyseal dysplasia, short limb-abnormal calcification type	http://purl.obolibrary.org/obo/MONDO_0010077	UMLS:C1849011|http://identifiers.org/mesh/C564794|Orphanet:93358|https://omim.org/entry/271665	ordo_disease
MONDO:0009099	biolink:Disease	nephrogenic diabetes insipidus-intracranial calcification syndrome	This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism.	Orphanet:3145|OMIM:221995|SCTID:716200002|GARD:0000259	mondo.json	diabetes insipidus, nephrogenic, with intellectual disability and intracerebral calcification|diabetes insipidus nephrogenic intellectual disability and intracerebral calcification|diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification|diabetes insipidus nephrogenic mental retardation and intracerebral calcification|Schofer-Beetz-Bohl syndrome|Schofer Beetz Bohl syndrome	http://purl.obolibrary.org/obo/MONDO_0009099	http://identifiers.org/snomedct/716200002|https://omim.org/entry/221995|Orphanet:3145	ordo_disease|gard_rare
MONDO:0009098	biolink:Disease	dextrocardia with unusual facies and microphthalmia		GARD:0000136|UMLS:C1857298|MESH:C538269|OMIM:221950	mondo.json	Aughton syndrome|dextrocardia with unusual facies and microphthalmia|dextrocardia, microphthalmia, cleft palate, choreoathetosis and mental retardation|dextrocardia, microphthalmia, cleft palate, choreoathetosis and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0009098	https://omim.org/entry/221950|http://identifiers.org/mesh/C538269|UMLS:C1857298	gard_rare
MONDO:0010076	biolink:Disease	spondyloepimetaphyseal dysplasia, Irapa type	A spondyloepimetaphyseal dysplasia is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.	MESH:C562958|UMLS:C0432213|OMIM:271650|SCTID:717330004|Orphanet:93351	mondo.json	spondyloepimetaphyseal dysplasia, Irapa type|SEMDIT|SEMD, Irapa type	http://purl.obolibrary.org/obo/MONDO_0010076	Orphanet:93351|http://identifiers.org/mesh/C562958|http://identifiers.org/snomedct/717330004|https://omim.org/entry/271650|UMLS:C0432213	ordo_disease
MONDO:0009097	biolink:Disease	persistent hyperplastic primary vitreous, autosomal recessive	Autosomal recessive form of persistent hyperplastic primary vitreous.	Orphanet:300337|OMIM:221900|UMLS:C1969783	mondo.json	retinal nonattachment, nonsyndromic congenital|retinal nonattachment and falciform detachment|autosomal recessive persistent hyperplastic primary vitreous|persistent fetal vasculature|persistent hyperplastic primary vitreous, autosomal recessive|PHPVAR	http://purl.obolibrary.org/obo/MONDO_0009097	UMLS:C1969783|https://omim.org/entry/221900	
MONDO:0010079	biolink:Disease	Canavan disease	A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.	UMLS:C0206307|MESH:D017825|GARD:0005984|MedDRA:10067608|SCTID:80544005|OMIM:271900|NCIT:C84611|DOID:3613|Orphanet:141	mondo.json	Aspa deficiency|aminoacylase 2 deficiency|Canavan disease|aspartoacylase deficiency|spongy degeneration of the brain|Von Bogaert-Bertrand disease|spongy degeneration of the central nervous system|Acy2 deficiency|spongy degeneration of central nervous system|ACY2 deficiency|Canavan-VAN Bogaert-Bertrand disease|spongy Degeneration of central nervous system|Canavan-Van Bogaert-Bertrand disease|Asp deficiency	http://purl.obolibrary.org/obo/MONDO_0010079	DOID:3613|NCIT:C84611|http://identifiers.org/mesh/D017825|http://identifiers.org/snomedct/80544005|Orphanet:141|UMLS:C0206307|https://omim.org/entry/271900	ordo_disease|gard_rare
MONDO:0010078	biolink:Disease	spondyloperipheral dysplasia	A condition caused by by truncating mutations in the C-propeptide of COL2A1. Like other type II collagen disorders it is characterised by short stature, platyspondyly and epiphyseal dysplasia. A distinguishing feature is the presence of brachydactyly with a prominent first toe.	UMLS:C0796173|OMIM:271700|GARD:0004994|ICD9:758.89|Orphanet:1856|MESH:C535799|SCTID:702339001|NCIT:C135088	mondo.json	spondyloperipheral dysplasia with short ulna|spondyloperipheral dysplasia|spondyloperipheral dysplasia-short ulna syndrome	http://purl.obolibrary.org/obo/MONDO_0010078	http://identifiers.org/mesh/C535799|NCIT:C135088|UMLS:C0796173|http://identifiers.org/snomedct/702339001|Orphanet:1856|https://omim.org/entry/271700	ordo_disease
MONDO:0009096	biolink:Disease	obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009096		
MONDO:0009095	biolink:Disease	dermatoosteolysis, Kirghizian type	Dermatoosteolysis, Kirghizian type, is characterised by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive.	UMLS:C1857301|OMIM:221810|MESH:C535373|GARD:0001814|Orphanet:1657|SCTID:721090002	mondo.json	autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia|Kirghizian Dermatoosteolysis|dermatoosteolysis, Kirghizian type|Dermatoosteolysis Kirghizian type	http://purl.obolibrary.org/obo/MONDO_0009095	http://identifiers.org/mesh/C535373|https://omim.org/entry/221810|UMLS:C1857301|http://identifiers.org/snomedct/721090002|Orphanet:1657	gard_rare|ordo_malformation_syndrome
MONDO:0009094	biolink:Disease	dermochondrocorneal dystrophy	Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.	Orphanet:79149|SCTID:254150007|UMLS:C0432288|MESH:C535375|ICD9:379.99|OMIM:221800|GARD:0001815	mondo.json	François syndrome|FranC'ois syndrome|DCCD|Francois syndrome|Dermochondrocorneal dystrophy of François|dermochondrocorneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0009094	http://identifiers.org/mesh/C535375|UMLS:C0432288|Orphanet:79149|http://identifiers.org/snomedct/254150007|https://omim.org/entry/221800	ordo_disease
MONDO:0009093	biolink:Disease	dermatoleukodystrophy	Dermatoleukodystrophy is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.	MESH:C538220|GARD:0001813|UMLS:C1857314|Orphanet:1659|OMIM:221790|SCTID:733044009	mondo.json	Dermatoleukodystrophy	http://purl.obolibrary.org/obo/MONDO_0009093	http://identifiers.org/snomedct/733044009|https://omim.org/entry/221790|http://identifiers.org/mesh/C538220|UMLS:C1857314|Orphanet:1659	ordo_disease|gard_rare
MONDO:0009092	biolink:Disease	polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly	A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.	GARD:0009921|GARD:9921|ICD9:758.89|SCTID:702347001|Orphanet:2770|DOID:0090112|UMLS:C1857316|OMIMPS:221770	mondo.json	polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy|PLOSL|progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease|NHD|polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly|brain-bone-fat disease|PLO-SL|presenile dementia with bone cysts|dementia, progressive, with lipomembranous polycystic osteodysplasia|dementia, prefrontal, with bone cysts|Nasu-Hakola disease	http://purl.obolibrary.org/obo/MONDO_0009092	DOID:0090112|http://identifiers.org/snomedct/702347001|https://omim.org/phenotypicSeries/PS221770|UMLS:C1857316|Orphanet:2770	ordo_malformation_syndrome
MONDO:0009091	biolink:Disease	non-acquired combined pituitary hormone deficiency with spine abnormalities	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.	UMLS:C3489787|OMIM:221750|Orphanet:231720|GARD:0010603|MESH:C536710	mondo.json	deafness, sensorineural, with pituitary dwarfism|non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome|Pituitary hormone deficiency, combined with rigid cervical spine|non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome|pituitary hormone deficiency, combined, type 3|CPHD3|Winkelmann-Bethge-Pfeiffer syndrome|Deafness, sensorineural with pituitary dwarfism|non-acquired combined pituitary hormone deficiency with spine abnormalities|pituitary hormone deficiency, combined, with rigid cervical spine|pituitary hormone deficiency, combined, 3	http://purl.obolibrary.org/obo/MONDO_0009091	UMLS:C3489787|https://omim.org/entry/221750|Orphanet:231720|http://identifiers.org/mesh/C536710	ordo_malformation_syndrome|gard_rare
MONDO:0009090	biolink:Disease	hearing loss, sensorineural, autosomal-mitochondrial type		OMIM:221745|DOID:0111752|MESH:C565637	mondo.json	deafness, sensorineural, autosomal-mitochondrial type	http://purl.obolibrary.org/obo/MONDO_0009090	https://omim.org/entry/221745|DOID:0111752|http://identifiers.org/mesh/C565637	
MONDO:0010071	biolink:Disease	obsolete spondyloenchondrodysplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010071		
MONDO:0010070	biolink:Disease	brachyolmia type 1, Hobaek type		OMIM:271530|MESH:C537099|UMLS:C1849055|Orphanet:93301	mondo.json	BCYM1A|spondylodysplasia with Pure brachyolmia|brachyolmia, recessive type of Hobaek|brachyolmia type 1, Hobaek type	http://purl.obolibrary.org/obo/MONDO_0010070	Orphanet:93301|http://identifiers.org/mesh/C537099|https://omim.org/entry/271530|UMLS:C1849055	
MONDO:0010073	biolink:Disease	spondyloepiphyseal dysplasia tarda, Kohn type	Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.	OMIM:271620|UMLS:C1849053|Orphanet:163665|MESH:C564796|SCTID:719202006	mondo.json	spondyloepiphyseal dysplasia tarda with mental retardation|spondyloepiphyseal dysplasia tarda with intellectual disability|Sedt with mental retardation|Sedt with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010073	https://omim.org/entry/271620|http://identifiers.org/snomedct/719202006|Orphanet:163665|UMLS:C1849053|http://identifiers.org/mesh/C564796	ordo_disease
MONDO:0010072	biolink:Disease	spondyloepiphyseal dysplasia tarda, autosomal recessive	Autosomal recessive form of spondyloepiphyseal dysplasia tarda.	MESH:C564797|UMLS:C1849054|OMIM:271600	mondo.json	autosomal recessive spondyloepiphyseal dysplasia tarda|spondyloepiphyseal dysplasia tarda, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0010072	https://omim.org/entry/271600|UMLS:C1849054|http://identifiers.org/mesh/C564797	
MONDO:0010075	biolink:Disease	spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.	OMIM:271640|DOID:0112198	mondo.json	SEMDJL1|spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6|SEMDJL|B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity|spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures|spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	http://purl.obolibrary.org/obo/MONDO_0010075	DOID:0112198|https://omim.org/entry/271640	
MONDO:0010074	biolink:Disease	brachyolmia type 1, toledo type		OMIM:271630|UMLS:C1849048|Orphanet:93303|MESH:C535787	mondo.json	spondyloepiphyseal dysplasia tarda, Toledo type|Sed, chondroitin sulfate type|BCYM1B|brachyolmia type 1, Toledo type|PAPS-chondroitin sulfate sulfotransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0010074	Orphanet:93303|https://omim.org/entry/271630|UMLS:C1849048|http://identifiers.org/mesh/C535787	
HP:0011354	biolink:PhenotypicFeature	Generalized abnormality of skin	An abnormality of the skin that is not localized to any one particular region.	UMLS:C4021157	mondo.json	Generalised abnormality of skin|Generalized abnormality of skin	http://purl.obolibrary.org/obo/HP_0011354		
HP:0011355	biolink:PhenotypicFeature	Localized skin lesion	A lesion of the skin that is located in a specific region rather than being generalized.	UMLS:C0850826	mondo.json	Localised skin lesion|Localized skin lesion	http://purl.obolibrary.org/obo/HP_0011355		
HP:0011356	biolink:PhenotypicFeature	Regional abnormality of skin	An abnormality of the skin that is restricted to a particular body region.	UMLS:C4023402	mondo.json		http://purl.obolibrary.org/obo/HP_0011356		
HP:0011357	biolink:PhenotypicFeature	obsolete Abnormality of hair density			mondo.json		http://purl.obolibrary.org/obo/HP_0011357		
GO:0002284	biolink:NamedThing	myeloid dendritic cell differentiation involved in immune response	The process in which an immature myeloid dendritic cell acquires the specialized features of a mature myeloid dendritic cell as part of an immune response.		mondo.json	myeloid dendritic cell differentiation during immune response	http://purl.obolibrary.org/obo/GO_0002284		
GO:0002285	biolink:NamedThing	lymphocyte activation involved in immune response	A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response.		mondo.json	lymphocyte activation during immune response	http://purl.obolibrary.org/obo/GO_0002285		
GO:0002286	biolink:NamedThing	T cell activation involved in immune response	The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific, leading to the initiation or perpetuation of an immune response.		mondo.json	T-cell activation during immune response|T lymphocyte activation during immune response|T-lymphocyte activation during immune response|T cell activation during immune response	http://purl.obolibrary.org/obo/GO_0002286		
OBO:chebi#is_substituent_group_from	biolink:NamedThing	is substituent group from			mondo.json		http://purl.obolibrary.org/obo/chebi#is_substituent_group_from		
MONDO:0009069	biolink:Disease	congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.	SCTID:718219002|Orphanet:70472|OMIM:220111|GARD:0008370|MESH:C537004	mondo.json	Cox deficiency, Saguenay Lac saint Jean type|Cox deficiency, French Canadian type|cytochrome C oxidase deficiency, French Canadian type|mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)|COX deficiency, French-Canadian type|Leigh syndrome, French Canadian type|cytochrome C oxidase deficiency, French-Canadian type|LSFC|Leigh syndrome, Saguenay-Lac-Saint-Jean type|Cox deficiency, Saguenay-Lac-Saint-Jean type|congenital lactic acidosis, Saguenay-Lac-Saint-Jean type|Leigh syndrome, Saguenay Lac saint Jean type|cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type|SLSJ-COX deficiency|Leigh syndrome, French-Canadian type	http://purl.obolibrary.org/obo/MONDO_0009069	http://identifiers.org/mesh/C537004|Orphanet:70472|https://omim.org/entry/220111|http://identifiers.org/snomedct/718219002	ordo_disease
MONDO:0009068	biolink:Disease	cytochrome-c oxidase deficiency disease	A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.	OMIM:220110|SCTID:67434000|Orphanet:254905|GARD:0000048|DOID:3762|NCIT:C98910|MESH:D030401|UMLS:C0268237	mondo.json	Complex 4 mitochondrial respiratory chain deficiency|isolated COX deficiency|cytochrome-c oxidase deficiency disease|COX deficiency|Complex IV deficiency|Cox deficiency|isolated cytochrome C oxidase deficiency|cytochrome C oxidase deficiency|mitochondrial complex IV deficiency, nuclear type 1|mitochondrial Complex 4 deficiency|isolated mitochondrial respiratory chain complex IV deficiency|cytochrome-C oxidase deficiency|mitochondrial complex IV deficiency|deficiency of mitochondrial respiratory chain complex4	http://purl.obolibrary.org/obo/MONDO_0009068	http://identifiers.org/mesh/D030401|http://identifiers.org/snomedct/67434000|Orphanet:254905|DOID:3762|NCIT:C98910|https://omim.org/entry/220110|UMLS:C0268237	gard_rare|ordo_disease
GO:0002281	biolink:NamedThing	macrophage activation involved in immune response	A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response.		mondo.json	macrophage polarization involved in immune response|macrophage activation during immune response	http://purl.obolibrary.org/obo/GO_0002281		
MONDO:0009067	biolink:Disease	cystinuria	Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones.	NCIT:C84664|MedDRA:10011778|HP:0003131|UMLS:C0010691|SCTID:85020001|MESH:D003555|GARD:0006237|OMIM:220100|DOID:9266|Orphanet:214	mondo.json	cystinuria, type II|cystinuria, type B|cystinuria, type a|CSNU|cystinuria-lysinuria|cystinuria, type III, formerly|cystinuria, type non-I, formerly|cystinuria, type I, formerly|cystinuria, type non-I|cystinuria, type III|cystinuria-lysinuria syndrome|cystinuria, type I|cystinuria|cystinuria (disease)|cystinuria, type II, formerly|cystinuria, type A/B	http://purl.obolibrary.org/obo/MONDO_0009067	http://identifiers.org/mesh/D003555|Orphanet:214|http://identifiers.org/snomedct/85020001|UMLS:C0010691|DOID:9266|https://omim.org/entry/220100|NCIT:C84664	gard_rare|ordo_disease
MONDO:0009066	biolink:Disease	juvenile nephropathic cystinosis	Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.	UMLS:C0268626|ICD10EXP:E72.0+|OMIM:219900|MESH:C562683|EFO:0009049|ICD10EXP:N16.3*|Orphanet:411634|SCTID:22830006	mondo.json	cystinosis, late-onset juvenile or adolescent nephropathic|intermediate cystinosis|juvenile nephropathic cystinosis|cystinosis, intermediate|cystinosis, late-onset juvenile or adolescent nephropathic type|juvenile cystinosis	http://purl.obolibrary.org/obo/MONDO_0009066	UMLS:C0268626|http://identifiers.org/snomedct/22830006|Orphanet:411634|https://omim.org/entry/219900|http://identifiers.org/mesh/C562683	ordo_clinical_subtype
MONDO:0010066	biolink:Disease	familial isolated congenital asplenia	Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.	Orphanet:101351|OMIM:271400|MESH:C563028|SCTID:726708009	mondo.json	ICAS|hyposplenia, isolated congenital|splenic hypoplasia|asplenia, familial|asplenia, isolated congenital	http://purl.obolibrary.org/obo/MONDO_0010066	http://identifiers.org/mesh/C563028|http://identifiers.org/snomedct/726708009|Orphanet:101351|https://omim.org/entry/271400	ordo_morphological_anomaly
MONDO:0009065	biolink:Disease	obsolete cystinosis, nephropathic			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009065		
MONDO:0010065	biolink:Disease	spinocerebellar degeneration with slow eye movements		OMIM:271322	mondo.json	SDSEM|spinocerebellar degeneration with slow eye movements	http://purl.obolibrary.org/obo/MONDO_0010065	https://omim.org/entry/271322	
MONDO:0010068	biolink:Disease	spondyloepimetaphyseal dysplasia, sponastrime type	A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation.	SCTID:389161008|ICD9:756.9|MESH:C535786|DOID:5684|GARD:0004970|NCIT:C129031|OMIM:271510|Orphanet:93357	mondo.json	spondyloepimetaphyseal dysplasia Sponastrime type|spondyloepimetaphyseal dysplasia, sponastrime type|short-limb dwarfism with saddle Nose, spinal alterations, and metaphyseal striation|spondylar and nasal alterations with striated metaphyses|sponastrime dysplasia|short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation|spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia|Sponastrime dysplasia|spondylar and nasal alterations-striated metaphyses syndrome|spondyloepimetaphyseal dysplasia, Sponastrime type|spondylar and nasal changes with triations of the metaphyses (SPONASTRIME) dysplasia	http://purl.obolibrary.org/obo/MONDO_0010068	http://identifiers.org/snomedct/389161008|http://identifiers.org/mesh/C535786|Orphanet:93357|NCIT:C129031|DOID:5684|https://omim.org/entry/271510	gard_rare|ordo_disease
MONDO:0009064	biolink:Disease	ocular cystinosis	Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.	UMLS:C2931013|MESH:C535765|Orphanet:411641|OMIM:219750	mondo.json	cystinosis, ADULT NONNEPHROPATHIC|cystinosis, ocular Nonnephropathic|non-nephropathic cystinosis|ocular cystinosis|adult-onset cystinosis|cystinosis, benign Nonnephropathic	http://purl.obolibrary.org/obo/MONDO_0009064	Orphanet:411641|https://omim.org/entry/219750|http://identifiers.org/mesh/C535765|UMLS:C2931013	ordo_clinical_subtype
MONDO:0010067	biolink:Disease	splenoportal vascular anomalies		OMIM:271500|SCTID:234131004|MESH:C562761	mondo.json	splenoportal vascular anomalies	http://purl.obolibrary.org/obo/MONDO_0010067	http://identifiers.org/mesh/C562761|https://omim.org/entry/271500|http://identifiers.org/snomedct/234131004	
MONDO:0009063	biolink:Disease	ventriculomegaly-cystic kidney disease		UMLS:C1857423|Orphanet:443988|DOID:0111625|OMIM:219730	mondo.json	ventriculomegaly with cystic kidney disease|congenital nephrosis-cerebral ventriculomegaly syndrome|VMCKD	http://purl.obolibrary.org/obo/MONDO_0009063	Orphanet:443988|UMLS:C1857423|DOID:0111625|https://omim.org/entry/219730	ordo_disease
MONDO:0009062	biolink:Disease	cystic fibrosis-gastritis-megaloblastic anemia syndrome	A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.	GARD:0003303|OMIM:219721|MESH:C537039|Orphanet:2575|SCTID:720401009	mondo.json	cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and intellectual disability|cystic fibrosis, Helicobacter pylori gastritis, megaloblastic anemia, subnormal mentality and minor anomalies|cystic fibrosis gastritis megaloblastic anemia|cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and mental retardation|Lubani-Al Saleh-Teebi syndrome|Lubani Al Saleh Teebi syndrome	http://purl.obolibrary.org/obo/MONDO_0009062	http://identifiers.org/mesh/C537039|Orphanet:2575|https://omim.org/entry/219721|http://identifiers.org/snomedct/720401009	ordo_disease
MONDO:0010069	biolink:Disease	spondylocostal dysostosis-anal and genitourinary malformations syndrome	Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterised by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested.	OMIM:271520|Orphanet:94095|UMLS:C1849069|MESH:C564799	mondo.json	CMn syndrome|Casamassima-Morton-Nance syndrome|spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome|spondylocostal dysostosis with anal atresia and urogenital anomalies	http://purl.obolibrary.org/obo/MONDO_0010069	UMLS:C1849069|Orphanet:94095|http://identifiers.org/mesh/C564799|https://omim.org/entry/271520	ordo_malformation_syndrome
MONDO:0009061	biolink:Disease	cystic fibrosis	Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.	UMLS:C0010674|MedDRA:10011762|OMIM:219700|MESH:D003550|DOID:1485|NCIT:C2975|GARD:0006233|ICD10CM:E84|ICD9:277.0|SCTID:190905008|Orphanet:586	mondo.json	pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis|cystic fibrosis lung disease, modifier of|mucoviscidosis|CF|cystic fibrosis	http://purl.obolibrary.org/obo/MONDO_0009061	NCIT:C2975|Orphanet:586|http://purl.bioontology.org/ontology/ICD10CM/E84|https://omim.org/entry/219700|UMLS:C0010674|DOID:1485|http://identifiers.org/snomedct/190905008|http://identifiers.org/mesh/D003550	ordo_disease|gard_rare
MONDO:0009060	biolink:Disease	cystic disease of lung		OMIM:219600|UMLS:C1384901|MESH:C563237	mondo.json	cystic disease of lung	http://purl.obolibrary.org/obo/MONDO_0009060	https://omim.org/entry/219600|http://identifiers.org/mesh/C563237|UMLS:C1384901	
MONDO:0010060	biolink:Disease	infantile onset spinocerebellar ataxia	Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.	Orphanet:1186|GARD:0004062|DOID:0050556|DOID:0080126|SCTID:724227000|MESH:C535523|OMIM:271245|UMLS:C1849096	mondo.json	OHAHA syndrome|Ohaha syndrome|ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome|mitochondrial DNA depletion syndrome type 7|MTDPS7|ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis|TWNK autosomal recessive degenerative and progressive cerebellar ataxia|IOSCA|spinocerebellar ataxia 8, formerly|autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK|ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis|spinocerebellar ataxia, infantile, with sensory neuropathy|spinocerebellar ataxia 8 (formerly)|mitochondrial DNA depletion syndrome 7 (hepatocerebral type)|spinocerebellar ataxia 8|spinocerebellar ataxia, infantile-onset|ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis|SCA8 (formerly)|spinocerebellar ataxia infantile with sensory neuropathy|mitochondrial DNA depletion syndrome 7	http://purl.obolibrary.org/obo/MONDO_0010060	DOID:0080126|Orphanet:1186|https://omim.org/entry/271245|http://identifiers.org/snomedct/724227000|http://identifiers.org/mesh/C535523|UMLS:C1849096	ordo_disease
MONDO:0010062	biolink:Disease	spinocerebellar ataxia-dysmorphism syndrome	Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive.	UMLS:C1849088|MESH:C564802|GARD:0004958|Orphanet:1185|OMIM:271270	mondo.json	spinocerebellar ataxia with dysmorphism	http://purl.obolibrary.org/obo/MONDO_0010062	UMLS:C1849088|http://identifiers.org/mesh/C564802|Orphanet:1185|https://omim.org/entry/271270	ordo_disease
MONDO:0010061	biolink:Disease	autosomal recessive cerebellar ataxia-blindness-deafness syndrome		DOID:0111612|Orphanet:95433|GARD:0009971|MESH:C537309|OMIM:271250|UMLS:C1849094	mondo.json	autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome|spinocerebellar ataxia with blindness and deafness|SCABD|spinocerebellar ataxia, autosomal recessive 3|spinocerebellar ataxia autosomal recessive 3|autosomal recessive cerebellar ataxia - blindness - deafness|autosomal recessive spinocerebellar ataxia type 3|autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome|SCAR3	http://purl.obolibrary.org/obo/MONDO_0010061	Orphanet:95433|http://identifiers.org/mesh/C537309|https://omim.org/entry/271250|DOID:0111612|UMLS:C1849094	ordo_disease
MONDO:0010064	biolink:Disease	spastic ataxia-corneal dystrophy syndrome	Mousa-AlDin-AlNassar syndrome is characterised by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia.	Orphanet:2572|GARD:0003795|SCTID:715465001|OMIM:271320|MESH:C536989|UMLS:C1849085	mondo.json	spastic ataxia-ocular anomalies syndrome|spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs|Mousa-Al Din-Al Nassar syndrome|spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia|Bedouin spastic ataxia syndrome|Mousa Al din Al Nassar syndrome	http://purl.obolibrary.org/obo/MONDO_0010064	UMLS:C1849085|http://identifiers.org/mesh/C536989|Orphanet:2572|https://omim.org/entry/271320|http://identifiers.org/snomedct/715465001	ordo_disease
MONDO:0010063	biolink:Disease	corneal-cerebellar syndrome	A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.	Orphanet:3177|MESH:C535472|OMIM:271310|SCTID:720750004|GARD:0001525|UMLS:C1849087	mondo.json	spinocerebellar degeneration corneal dystrophy|corneal-cerebellar syndrome|spinocerebellar degeneration-corneal dystrophy syndrome|corneal cerebellar syndrome|Der Kaloustian Jarudi Khoury syndrome|corneal dystrophy with spinocerebellar Degeneration|Der Kaloustian-Jarudi-Khoury syndrome|spinocerebellar degeneration and corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0010063	UMLS:C1849087|http://identifiers.org/snomedct/720750004|Orphanet:3177|https://omim.org/entry/271310|http://identifiers.org/mesh/C535472	ordo_malformation_syndrome
MONDO:0022034	biolink:Disease	lentivirus infection	Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection.	MESH:D016180|UMLS:C0079680|EFO:1001357	mondo.json	Disease due to Lentivirus|Lentivirus Infections|Infection, Lentivirus|Infections, Lentivirus|Lentivirus Infection|Disease caused by Lentivirus	http://purl.obolibrary.org/obo/MONDO_0022034	UMLS:C0079680|http://identifiers.org/mesh/D016180	
MONDO:0022037	biolink:Disease	large-cell immunoblastic lymphoma	Malignant lymphoma characterized by the presence of immunoblasts with uniformly round-to-oval nuclei, one or more prominent nucleoli, and abundant cytoplasm. This class may be subdivided into plasmacytoid and clear-cell types based on cytoplasmic characteristics. A third category, pleomorphous, may be analogous to some of the peripheral T-cell lymphomas (LYMPHOMA, T-CELL, PERIPHERAL) recorded in both the United States and Japan.	MESH:D016400|GARD:0008219|UMLS:C0079746	mondo.json	IMMUNOBLASTIC LARGE LYMPHOMA|LYMPHOMA IMMUNOBLASTIC LARGE|LYMPHOMA LARGE IMMUNOBLASTIC|Lymphomas, Immunoblastic Large-Cell|Immunoblastomas|Diffuse non-Hodgkin's lymphoma, immunoblastic (clinical)|Lymphoma, Large Cell, Immunoblastic|LARGE IMMUNOBLASTIC LYMPHOMA|Large-Cell Lymphoma, Immunoblastic|Immunoblastic Sarcomas|Diffuse non-Hodgkin's immunoblastic (diffuse) lymphoma|Lymphoma, immunoblastic, high grade|Immunoblastic malignant lymphoma - large cell|Immunoblastic Large Cell Lymphoma|Immunoblastic Sarcoma|Immunoblastoma|Lymphoma, Large-Cell Immunoblastic|Immunoblastic Large-Cell Lymphomas|Immunoblastic Lymphoma|Lymphosarcoma, Diffuse Immunoblastic|Diffuse non-Hodgkin lymphoma, immunoblastic|Large-Cell Lymphomas, Immunoblastic|Immunoblastic Lymphomas, Large-Cell|Malignant lymphoma - immunoblastic|Lymphomas, Large-Cell Immunoblastic|Diffuse Immunoblastic Lymphosarcoma|Large-Cell Immunoblastic Lymphoma|Sarcomas, Immunoblastic|Diffuse non-Hodgkin's lymphoma, immunoblastic|Large-Cell Immunoblastic Lymphomas|Large cell immunoblastic lymphoma|Lymphoma, Immunoblastic, Large Cell|Diffuse Immunoblastic Lymphosarcomas|Large Cell Immunoblastic Lymphoma|Immunoblastic Lymphoma, Large-Cell|Lymphoma, Large-Cell, Immunoblastic|Lymphoma, Immunoblastic, Large-Cell|Lymphoma, Immunoblastic Large-Cell|Sarcoma, Immunoblastic|Lymphosarcomas, Diffuse Immunoblastic|Immunoblastic Lymphosarcomas, Diffuse|Immunoblastic Lymphosarcoma, Diffuse|Immunoblastic Large-Cell Lymphoma	http://purl.obolibrary.org/obo/MONDO_0022037	UMLS:C0079746|http://identifiers.org/mesh/D016400	gard_rare
GO:0002292	biolink:NamedThing	T cell differentiation involved in immune response	The process in which an antigenically naive T cell acquires the specialized features of an effector, regulatory, or memory T cell as part of an immune response. Effector T cells include cells which provide T cell help or exhibit cytotoxicity towards other cells.		mondo.json	T lymphocyte differentiation during immune response|T-cell differentiation during immune response|T cell differentiation during immune response|T cell development involved in immune response|T-lymphocyte differentiation during immune response	http://purl.obolibrary.org/obo/GO_0002292		
MONDO:0009079	biolink:Disease	DOORS syndrome	DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome.	DOID:0111627|Orphanet:79500|SCTID:719800009|GARD:0001685|MESH:C563052|OMIM:220500	mondo.json	autosomal recessive deafness-onychodystrophy syndrome|door syndrome|deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome|deafness onychodystrophy osteodystrophy and mental retardation syndrome|deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome|brachydactyly due to absence of distal phalanges|deafness onychodystrophy osteodystrophy and intellectual disability syndrome|deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures syndrome|deafness-onychoosteodystrophy-intellectual disability syndrome|Eronen syndrome|drc syndrome|DOORS syndrome|deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome|Digitorenocerebral syndrome|DOORS	http://purl.obolibrary.org/obo/MONDO_0009079	http://identifiers.org/snomedct/719800009|DOID:0111627|Orphanet:79500|http://identifiers.org/mesh/C563052|https://omim.org/entry/220500	gard_rare|ordo_malformation_syndrome
MONDO:0009078	biolink:Disease	obsolete Jervell and Lange-Nielsen syndrome			mondo.json	obsolete Jervell and Lange-Nielsen syndrome	http://purl.obolibrary.org/obo/MONDO_0009078		
MONDO:0009077	biolink:Disease	deafness, congenital, and familial myoclonic epilepsy		UMLS:C1857348|MESH:C565649|OMIM:220300	mondo.json	deafness, congenital, and familial myoclonic epilepsy	http://purl.obolibrary.org/obo/MONDO_0009077	UMLS:C1857348|http://identifiers.org/mesh/C565649|https://omim.org/entry/220300	
MONDO:0010055	biolink:Disease	spinal muscular atrophy with microcephaly and mental subnormality		MESH:C564806|OMIM:271110|UMLS:C1849108	mondo.json	spinal muscular atrophy with microcephaly and mental subnormality	http://purl.obolibrary.org/obo/MONDO_0010055	UMLS:C1849108|http://identifiers.org/mesh/C564806|https://omim.org/entry/271110	
MONDO:0009076	biolink:Disease	autosomal recessive nonsyndromic hearing loss 1A	An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.	GARD:0001697|MESH:C567134|NCIT:C129022|OMIM:220290|DOID:0110475	mondo.json	deafness nonsyndromic, connexin 26 linked|autosomal recessive nonsyndromic deafness type 1A|deafness, autosomal recessive type 1A|deafness, autosomal recessive 1A|deafness, digenic, GJB2/GJB6|connexin 26 deafness|DFNB1|GJB2-related deafness|deafness, digenic, GJB2/GJB3|deafness, digenic GJB2/GJB6, Autosomal recessive, Digenic dominant|autosomal recessive deafness 1A|deafness, digenic, GJB2/GJB3, Autosomal recessive, Digenic dominant|autosomal recessive nonsyndromic deafness 1A|deafness, autosomal recessive 1a, autosomal recessive, digenic dominant|DFNB1A	http://purl.obolibrary.org/obo/MONDO_0009076	NCIT:C129022|DOID:0110475|https://omim.org/entry/220290|http://identifiers.org/mesh/C567134	gard_rare
MONDO:0010054	biolink:Disease	spinal muscular atrophy with intellectual disability		MESH:C564807|UMLS:C1849109|OMIM:271109	mondo.json	spinal muscular atrophy with mental retardation|spinal muscular atrophy with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010054	UMLS:C1849109|http://identifiers.org/mesh/C564807|https://omim.org/entry/271109	
MONDO:0009075	biolink:Disease	Dandy-Walker malformation-postaxial polydactyly syndrome	Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.	OMIM:220220|SCTID:733094005|MESH:C535771|Orphanet:1566|UMLS:C1857351|GARD:0001669	mondo.json	DWM with postaxial polydactyly|Pierquin syndrome|Dandy-Walker malformation with postaxial polydactyly	http://purl.obolibrary.org/obo/MONDO_0009075	UMLS:C1857351|http://identifiers.org/snomedct/733094005|Orphanet:1566|http://identifiers.org/mesh/C535771|https://omim.org/entry/220220	ordo_malformation_syndrome
MONDO:0010057	biolink:Disease	spinal muscular atrophy, Ryukyuan type		GARD:0009646|MESH:C536881|UMLS:C1849102|OMIM:271200	mondo.json	spinal muscular atrophy, Ryukyuan type|Ryukyuan muscular atrophy|spinal muscular atrophy Ryukyuan type	http://purl.obolibrary.org/obo/MONDO_0010057	http://identifiers.org/mesh/C536881|UMLS:C1849102|https://omim.org/entry/271200	gard_rare
MONDO:0010056	biolink:Disease	spinal muscular atrophy, type IV	Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.	GARD:0000564|OMIM:271150|MESH:C563948|SCTID:85505000|DOID:0050529|Orphanet:83420|OMIM:158590|ICD9:335.19	mondo.json	spinal muscular atrophy, type IV|spinal muscular atrophy 4|spinal muscular atrophy, adult form|adult-onset spinal muscular atrophy|spinal muscular atrophy, proximal, adult, autosomal recessive|spinal muscular atrophy, type 4|spinal muscular atrophy-4|proximal spinal muscular atrophy type 4|SMA type IV|SMA4|SMA type 4|adult spinal muscular atrophy|SMA 4|spinal muscular atrophy type 4|spinal muscular atrophy of adults|SMA-IV	http://purl.obolibrary.org/obo/MONDO_0010056	DOID:0050529|Orphanet:83420|http://identifiers.org/mesh/C563948|https://omim.org/entry/271150|http://identifiers.org/snomedct/85505000	ordo_clinical_subtype|gard_rare
MONDO:0009074	biolink:Disease	facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome	Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterised by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.	MESH:C535985|OMIM:220219|Orphanet:1970|UMLS:C1857352	mondo.json	Dandy-Walker malformation with intellectual disability, macrocephaly, myopia, and BRACHYTELEPHALANGY|Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY	http://purl.obolibrary.org/obo/MONDO_0009074	Orphanet:1970|http://identifiers.org/mesh/C535985|https://omim.org/entry/220219|UMLS:C1857352	ordo_malformation_syndrome
MONDO:0009073	biolink:Disease	Ritscher-Schinzel syndrome 1	Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene.	DOID:0060571|OMIM:220210	mondo.json	Ritscher-Schinzel syndrome 1|Ritscher-Schinzel syndrome caused by mutation in WASHC5|Craniocerebellocardiac dysplasia|RTSC1|RTSC|Dandy-Walker-like malformation with atrioventricular septal defect|Ritscher-Schinzel syndrome|3C syndrome|Ritscher-Schinzel syndrome type 1|WASHC5 Ritscher-Schinzel syndrome	http://purl.obolibrary.org/obo/MONDO_0009073	DOID:0060571|https://omim.org/entry/220210	
MONDO:0010059	biolink:Disease	obsolete spinal muscular atrophy, type I, with congenital bone fractures			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010059		
MONDO:0009072	biolink:Disease	Dandy-Walker syndrome	Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia.	MedDRA:10048411|EFO:1000890|UMLS:C0010964|MESH:D003616|NCIT:C75012|OMIM:220200|SCTID:14447001|GARD:0006242|Orphanet:217|DOID:2785	mondo.json	mega cisterna magna (type of DW complex)|Dandy-Walker malformation|Dandy-Walker complex|isolated Dandy-Walker malformation|DWS|Dandy-Walker variant (type of DW complex)|atresia of foramina of Magendie and Luschka|Dandy-Walker syndrome|Dandy-Walker syndrome, Isolated cases|DW complex|Dandy-Walker syndrome or malformation (type of DW complex)	http://purl.obolibrary.org/obo/MONDO_0009072	Orphanet:217|NCIT:C75012|DOID:2785|UMLS:C0010964|https://omim.org/entry/220200|http://identifiers.org/snomedct/14447001|http://identifiers.org/mesh/D003616	ordo_morphological_anomaly
MONDO:0010058	biolink:Disease	scapuloperoneal spinal muscular atrophy, autosomal recessive		UMLS:CN074295|OMIM:271220	mondo.json	spinal muscular atrophy, scapuloperoneal	http://purl.obolibrary.org/obo/MONDO_0010058	UMLS:CN074295|https://omim.org/entry/271220	
MONDO:0009071	biolink:Disease	hereditary renal hypouricemia	Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF).	ICD9:790.6|MESH:C537757|SCTID:236478009|Orphanet:94088|GARD:0009496	mondo.json	hypouricemia, renal|Dalmatian hypouricemia|renal hypouricemia	http://purl.obolibrary.org/obo/MONDO_0009071	http://identifiers.org/mesh/C537757|Orphanet:94088|http://identifiers.org/snomedct/236478009	ordo_malformation_syndrome
MONDO:0034082	biolink:Disease	obsolete necrobiosis lipoidica			mondo.json		http://purl.obolibrary.org/obo/MONDO_0034082		
MONDO:0009070	biolink:Disease	D-glyceric aciduria	A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.	GARD:0000234|DOID:0111626|UMLS:C1291386|SCTID:237980004|NCIT:C128804|Orphanet:941|UMLS:C0342765|OMIM:220120|MESH:C535767	mondo.json	d-glyceric aciduria|D-glyceric acidemia|D-glycericacidemia|non ketotic hyperglycinemia syndrome|glycerate kinase deficiency|D-glycerate kinase deficiency	http://purl.obolibrary.org/obo/MONDO_0009070	http://identifiers.org/snomedct/237980004|DOID:0111626|Orphanet:941|NCIT:C128804|http://identifiers.org/mesh/C535767|UMLS:C0342765|UMLS:C1291386|https://omim.org/entry/220120	ordo_disease
MONDO:0010051	biolink:Disease	spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome	Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents.	MESH:C564808|OMIM:270950|Orphanet:3011|UMLS:C1849112|GARD:0004932	mondo.json	spastic quadriplegia, retinitis pigmentosa, and intellectual disability|spastic quadriplegia retinitis pigmentosa mental retardation|progressive quadriparesis, mental retardation, retinitis pigmentosa and hearing loss|spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome|spastic quadriplegia retinitis pigmentosa intellectual disability|progressive quadriparesis, intellectual disability, retinitis pigmentosa and hearing loss|spastic quadriplegia, retinitis pigmentosa, and mental retardation	http://purl.obolibrary.org/obo/MONDO_0010051	UMLS:C1849112|https://omim.org/entry/270950|http://identifiers.org/mesh/C564808|Orphanet:3011	ordo_disease
MONDO:0010050	biolink:Disease	obsolete spastic pseudosclerosis		UMLS:C0599464|OMIM:270900|MESH:C563024	mondo.json	corticopallidodegeneration|disseminated encephalomyelopathy|spastic pseudosclerosis	http://purl.obolibrary.org/obo/MONDO_0010050	http://identifiers.org/mesh/C563024|https://omim.org/entry/270900|UMLS:C0599464	
MONDO:0010053	biolink:Disease	hereditary spherocytosis type 3	Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTA1 gene.	MESH:C567489|DOID:0110918|OMIM:270970|UMLS:C2678338	mondo.json	spherocytosis, type 3|HS3|hereditary spherocytosis caused by mutation in SPTA1|spherocytosis, hereditary, 3|hereditary spherocytosis 3|SPTA1 hereditary spherocytosis|SPH3	http://purl.obolibrary.org/obo/MONDO_0010053	https://omim.org/entry/270970|DOID:0110918|UMLS:C2678338|http://identifiers.org/mesh/C567489	
MONDO:0010052	biolink:Disease	spermatogenic failure 4	Any azoospermia in which the cause of the disease is a mutation in the SYCP3 gene.	MESH:C536875|DOID:0070176|OMIM:270960|GARD:0008530	mondo.json	azoospermia with maturation arrest|SYCP3 azoospermia|pregnancy loss, recurrent, susceptibility to, 4|spermatogenic failure 4|azoospermia caused by mutation in SYCP3|SPGF4|spermatogenic failure type 4|spermatogenesis arrest|arrest of spermatogenesis|azoospermia due to Perturbations of meiosis|pregnancy loss, recurrent, 4	http://purl.obolibrary.org/obo/MONDO_0010052	http://identifiers.org/mesh/C536875|https://omim.org/entry/270960|DOID:0070176	predisposition
GO:0002269	biolink:NamedThing	leukocyte activation involved in inflammatory response	A change in the morphology or behavior of a leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an inflammatory response.		mondo.json	leukocyte activation during inflammatory response|immune cell activation during inflammatory response	http://purl.obolibrary.org/obo/GO_0002269		
GO:0002262	biolink:NamedThing	myeloid cell homeostasis	The process of regulating the proliferation and elimination of myeloid cells such that the total number of myeloid cells within a whole or part of an organism is stable over time in the absence of an outside stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0002262		
GO:0002263	biolink:NamedThing	cell activation involved in immune response	A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response.		mondo.json	cell activation during immune response	http://purl.obolibrary.org/obo/GO_0002263		
HGNC:21285	biolink:NamedThing	ADCY10			mondo.json		http://identifiers.org/hgnc/21285		
ENVO:01001311	biolink:NamedThing	solid surface layer	A surface layer which is composed primarily of solid environmental material.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001311		
GO:0002277	biolink:NamedThing	myeloid dendritic cell activation involved in immune response	The change in morphology and behavior of a myeloid dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response.		mondo.json	myeloid dendritic cell activation during immune response	http://purl.obolibrary.org/obo/GO_0002277		
GO:0002279	biolink:NamedThing	mast cell activation involved in immune response	The change in morphology and behavior of a mast cell resulting from exposure to a cytokine, chemokine, soluble factor, or to (at least in mammals) an antigen which the mast cell has specifically bound via IgE bound to Fc-epsilonRI receptors, leading to the initiation or perpetuation of an immune response.		mondo.json	mast cell activation during immune response	http://purl.obolibrary.org/obo/GO_0002279		
GO:0002274	biolink:NamedThing	myeloid leukocyte activation	A change in the morphology or behavior of a myeloid leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand.		mondo.json	myeloid leucocyte activation	http://purl.obolibrary.org/obo/GO_0002274		
MONDO:0022094	biolink:Disease	Cartwright Nelson Fryns syndrome		GARD:0001132|UMLS:C2931062|MESH:C535917	mondo.json	Growth retardation, severe mental retardation, acral limb deficiencies with poorly keratinized nails|Growth retardation, severe intellectual disability, acral limb deficiencies with poorly keratinized nails	http://purl.obolibrary.org/obo/MONDO_0022094	http://identifiers.org/mesh/C535917|UMLS:C2931062	gard_rare
GO:0002275	biolink:NamedThing	myeloid cell activation involved in immune response	A change in the morphology or behavior of a myeloid cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response.		mondo.json	myeloid cell activation during immune response	http://purl.obolibrary.org/obo/GO_0002275		
MONDO:0022096	biolink:Disease	pyogenic granuloma	A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma.	MESH:D017789|GARD:0010963|SCTID:200722003|UMLS:C0085653	mondo.json	Granulomata Pyogenicum|Granuloma pyogenicum|Pyogenic Granuloma|Granuloma Pyogenicum|Capillary Hemangioma, Lobular|hemangioma, Lobular Capillary|angiogranulomas|PG - Pyogenic granuloma|Granuloma, Pyogenic|Lobular Capillary Hemangioma|Capillary hemangioma of granulation tissue type|hemangiomatous Granulation Tissue|Lobular capillary hemangioma|Granuloma telangiectaticum|Lobular Hemangioma|angiogranuloma|Granulation Tissue-Type Hemangioma|Granuloma Telangiecticum	http://purl.obolibrary.org/obo/MONDO_0022096	http://identifiers.org/snomedct/200722003|UMLS:C0085653|http://identifiers.org/mesh/D017789	
ENVO:01001319	biolink:NamedThing	saline water body	A body of water which is primarily composed of saline water.		mondo.json	saline body of water	http://purl.obolibrary.org/obo/ENVO_01001319		
MONDO:0022098	biolink:Disease	catamenial pneumothorax	Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.Treatment is with hormones and surgery.	GARD:0009858|UMLS:C0340007|OMIM:131200|SCTID:233642001|MESH:C538279	mondo.json	premenstrual pneumothorax|catamenial pneumothorax	http://purl.obolibrary.org/obo/MONDO_0022098	http://identifiers.org/mesh/C538279|http://identifiers.org/snomedct/233642001|UMLS:C0340007	gard_rare
MONDO:0034022	biolink:Disease	Bethlem myopathy 2		Orphanet:536516|UMLS:C4225313|OMIM:616471	mondo.json	COL12A1 Bethlem myopathy|myopathic Ehlers-Danlos syndrome|Bethlem myopathy caused by mutation in COL12A1|BTHLM2|EDS, myopathic type|Bethlem myopathy 2|Ehlers-Danlos syndrome, myopathic type|myopathic EDS|Bethlem myopathy type 2	http://purl.obolibrary.org/obo/MONDO_0034022	UMLS:C4225313|https://omim.org/entry/616471|Orphanet:536516	ordo_disease
MONDO:0034021	biolink:Disease	spondylodysplastic Ehlers-Danlos syndrome		Orphanet:536471	mondo.json	spondylodysplastic EDS	http://purl.obolibrary.org/obo/MONDO_0034021	Orphanet:536471	ordo_disease
MONDO:0036688	biolink:Disease	rhabdomyoma	A benign mesenchymal tumor arising from skeletal or cardiac muscle.	ICDO:8900/0|MESH:D012207|UMLS:C0035411|NCIT:C3358|SCTID:402877008	mondo.json	Rhabdomyomatous neoplasm|rhabdomyoma|rhabdomyoma, benign	http://purl.obolibrary.org/obo/MONDO_0036688	http://identifiers.org/mesh/D012207|UMLS:C0035411|http://identifiers.org/snomedct/402877008|NCIT:C3358	
MONDO:0034028	biolink:Disease	obsolete symptomatic form of hemochromatosis type 1	OBSOLETE. Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.	Orphanet:465508	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034028	Orphanet:465508	
ENVO:01001310	biolink:NamedThing	liquid surface layer	A surface layer which is composed primarily of some liquid.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001310		
MONDO:0034024	biolink:Disease	kyphoscoliotic Ehlers-Danlos syndrome	A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP14 (formerly FKBP22), and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype.	Orphanet:536545	mondo.json	EDS VI|kyphoscoliotic EDS	http://purl.obolibrary.org/obo/MONDO_0034024	Orphanet:536545	ordo_disease
MONDO:0022089	biolink:Disease	Carnevale hernandez castillo syndrome		GARD:0001117|MESH:C535585|UMLS:C2930940	mondo.json	Triphalyngeal thumbs and brachyectrodactyly	http://purl.obolibrary.org/obo/MONDO_0022089	UMLS:C2930940|http://identifiers.org/mesh/C535585	gard_rare
GO:0002244	biolink:NamedThing	hematopoietic progenitor cell differentiation	The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells.		mondo.json	haematopoietic progenitor cell differentiation|haemopoietic progenitor cell differentiation|hemopoietic progenitor cell differentiation	http://purl.obolibrary.org/obo/GO_0002244		
GO:0002246	biolink:NamedThing	wound healing involved in inflammatory response	The series of events that restore integrity to damaged tissue that contribute to an inflammatory response.		mondo.json	healing during inflammatory response|inflammatory response wound healing	http://purl.obolibrary.org/obo/GO_0002246		
ENVO:01001346	biolink:NamedThing	erosion	An action of exogenic processes (such as water flow or wind) which remove environmental material from one location on the surface of an astronomical body, transporting it to another location where it is deposited.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001346		
NCBITaxon:135621	biolink:OrganismalEntity	Pseudomonadaceae		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_135621		
HP:0011390	biolink:PhenotypicFeature	Morphological abnormality of the inner ear	A structural anomaly of the internal part of the ear.	UMLS:C4023381	mondo.json		http://purl.obolibrary.org/obo/HP_0011390		
NCBITaxon:135625	biolink:OrganismalEntity	Pasteurellales		GC_ID:11	mondo.json	Pasteruellaceae group	http://purl.obolibrary.org/obo/NCBITaxon_135625		
NCBITaxon:135624	biolink:OrganismalEntity	Aeromonadales		GC_ID:11	mondo.json	Aeromonadaceae/Succinivibrionaceae group	http://purl.obolibrary.org/obo/NCBITaxon_135624		
NCBITaxon:135623	biolink:OrganismalEntity	Vibrionales		GC_ID:11	mondo.json	Vibrionaceae group|'Vibrionales'	http://purl.obolibrary.org/obo/NCBITaxon_135623		
MONDO:0036696	biolink:Disease	spleen neoplasm	A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma.	GARD:0007683|NCIT:C3383	mondo.json	tumor of spleen|splenic neoplasm|neoplasm of spleen|spleen tumor	http://purl.obolibrary.org/obo/MONDO_0036696	NCIT:C3383	
GO:0016885	biolink:NamedThing	ligase activity, forming carbon-carbon bonds	Catalysis of the joining of two molecules via a carbon-carbon bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate.		mondo.json		http://purl.obolibrary.org/obo/GO_0016885		
GO:0016887	biolink:NamedThing	ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.		mondo.json	ATP monophosphatase activity|adenosine 5'-triphosphatase activity|ATP phosphohydrolase activity|adenosine triphosphatase activity|adenosinetriphosphatase activity|ATP hydrolase activity	http://purl.obolibrary.org/obo/GO_0016887		
GO:0016881	biolink:NamedThing	acid-amino acid ligase activity	Catalysis of the ligation of an acid to an amino acid via a carbon-nitrogen bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate.		mondo.json	peptide synthase activity	http://purl.obolibrary.org/obo/GO_0016881		
MONDO:0034039	biolink:Disease	obsolete genetic hemoglobinopathy		Orphanet:466066	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034039	Orphanet:466066	
NCIT:C36278	biolink:NamedThing	Finding by Site or System			mondo.json		http://purl.obolibrary.org/obo/NCIT_C36278		
UBERON:5003635	biolink:AnatomicalEntity	pedal digit 5 plus metapodial segment			mondo.json		http://purl.obolibrary.org/obo/UBERON_5003635		
HP:0011387	biolink:PhenotypicFeature	Enlarged vestibular aqueduct	Increased size of the vestibular aqueduct.	MSH:C566366|UMLS:C1863752	mondo.json	Widened vestibular aqueduct|Dilated vestibular aqueduct	http://purl.obolibrary.org/obo/HP_0011387		
ENVO:01001334	biolink:NamedThing	advective transport process	A material transport process during which a volume of material is displaced due to a disequilibrium in physical forces and during which 1) the qualities that inhere in that volume and 2) the processes that are unfolding within it are largely unchanged.		mondo.json	advective transport	http://purl.obolibrary.org/obo/ENVO_01001334		
HP:0011389	biolink:PhenotypicFeature	Functional abnormality of the inner ear	An abnormality of the function of the inner ear.	UMLS:C4023382	mondo.json	Functional abnormality of the inner ear	http://purl.obolibrary.org/obo/HP_0011389		
UBERON:5003631	biolink:AnatomicalEntity	pedal digit 1 plus metapodial segment			mondo.json		http://purl.obolibrary.org/obo/UBERON_5003631		
OBO:mondo#disease_has_basis_in_development_of	biolink:NamedThing	disease_has_basis_in_development_of			mondo.json		http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_development_of		
GO:0002250	biolink:NamedThing	adaptive immune response	An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).		mondo.json	acquired immune response|immune memory response	http://purl.obolibrary.org/obo/GO_0002250		
MONDO:0022070	biolink:Disease	Cantu sanchez-corona hernandez syndrome	Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies	GARD:0001083	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022070		gard_rare
GO:0002251	biolink:NamedThing	organ or tissue specific immune response	An immune response taking place in an organ or tissues such as the liver, brain, mucosa, or nervous system tissues.		mondo.json	immune response in organ or tissue	http://purl.obolibrary.org/obo/GO_0002251		
MONDO:0022071	biolink:Disease	carbon baby syndrome	Carbon baby syndrome, also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown.	SCTID:238700008|UMLS:C0406419|GARD:0001089	mondo.json	universal acquired melanosis	http://purl.obolibrary.org/obo/MONDO_0022071	http://identifiers.org/snomedct/238700008|UMLS:C0406419	gard_rare
GO:0002252	biolink:NamedThing	immune effector process	Any process of the immune system that executes a component of an immune response. An effector immune process takes place after its activation.		mondo.json		http://purl.obolibrary.org/obo/GO_0002252		
GO:0002253	biolink:NamedThing	activation of immune response	Any process that initiates an immune response.		mondo.json		http://purl.obolibrary.org/obo/GO_0002253		
MONDO:0010099	biolink:Disease	Tay-Sachs disease AB variant	GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.	Orphanet:309246|MESH:D049290|OMIM:272750|UMLS:C0268275|SCTID:71253000|NCIT:C133084|DOID:4795	mondo.json	Tay-Sachs disease, variant AB|hexosaminidase activator deficiency|GM2-gangliosidosis, AB variant|Ab variant GM2-gangliosidosis|GM2 activator deficiency|Tay-Sachs disease, AB variant|GM2 gangliosidosis, AB variant	http://purl.obolibrary.org/obo/MONDO_0010099	UMLS:C0268275|NCIT:C133084|http://identifiers.org/snomedct/71253000|https://omim.org/entry/272750|http://identifiers.org/mesh/D049290|DOID:4795|Orphanet:309246	ordo_disease
MONDO:0010098	biolink:Disease	taurodontism	Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome.	MESH:C536946|SCTID:51744007|HP:0000679|GARD:0005119|UMLS:C0266039|OMIM:272700|Orphanet:3289	mondo.json	taurodontism (disease)|Bull teeth|large pulp chambers in the molars|taurodontism	http://purl.obolibrary.org/obo/MONDO_0010098	Orphanet:3289|UMLS:C0266039|http://identifiers.org/snomedct/51744007|https://omim.org/entry/272700|http://identifiers.org/mesh/C536946	ordo_morphological_anomaly
MONDO:0034041	biolink:Disease	congenital axonal neuropathy with encephalopathy	A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.	Orphanet:538101	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034041	Orphanet:538101	ordo_disease
MONDO:0010091	biolink:Disease	Cold-induced sweating syndrome 1	Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.	OMIM:272430|Orphanet:1545|OMIM:601378|GARD:0001611|SCTID:725097006|MESH:C536214|DOID:0080329	mondo.json	Crisponi/cold-induced sweating syndrome 1|Crisponi syndrome|CRISPONI/cold-induced sweating syndrome 1|muscle contractions, Tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death|cold-induced sweating syndrome 1|Sohar-Crisponi syndrome|cold-induced sweating syndrome type 1|CISS1	http://purl.obolibrary.org/obo/MONDO_0010091	https://omim.org/entry/272430|DOID:0080329|Orphanet:1545|http://identifiers.org/mesh/C536214|http://identifiers.org/snomedct/725097006	ordo_malformation_syndrome
MONDO:0010090	biolink:Disease	Summitt syndrome	Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome.	MESH:C538142|OMIM:272350|GARD:0000127|Orphanet:3210|UMLS:C1802405|ICD10CM:Q82.0|SCTID:733606001	mondo.json	recessive acrocephalosyndactyly with normal intelligence|Summitt's acrocephalosyndactyly|Summitt syndrome	http://purl.obolibrary.org/obo/MONDO_0010090	Orphanet:3210|http://identifiers.org/mesh/C538142|https://omim.org/entry/272350|UMLS:C1802405|http://identifiers.org/snomedct/733606001	ordo_malformation_syndrome|gard_rare
MONDO:0010093	biolink:Disease	syndesmodysplasic dwarfism		OMIM:272450|Orphanet:2654|MESH:C537869|UMLS:C2931647	mondo.json	syndesmodysplasic dwarfism	http://purl.obolibrary.org/obo/MONDO_0010093	https://omim.org/entry/272450|http://identifiers.org/mesh/C537869|UMLS:C2931647	
MONDO:0010092	biolink:Disease	Filippi syndrome	Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.	UMLS:C0795940|MESH:C538152|OMIM:272440|SCTID:720954000|Orphanet:3255|GARD:0000062	mondo.json	Scott craniodigital syndrome with mental retardation|unusual facial appearance, microcephaly, growth and intellectual disability and syndactyly|syndactyly, type I, with microcephaly and intellectual disability|FLPIS|syndactyly type I with microcephaly and intellectual disability|syndactyly type I with microcephaly and mental retardation|unusual facial appearance, microcephaly, growth and mental retardation and syndactyly|type 1 syndactyly-microcephaly-intellectual disability syndrome|FILIPPI syndrome|syndactyly, type I, with microcephaly and mental retardation|Filippi syndrome|Scott craniodigital syndrome with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010092	Orphanet:3255|http://identifiers.org/mesh/C538152|http://identifiers.org/snomedct/720954000|https://omim.org/entry/272440|UMLS:C0795940	gard_rare|ordo_malformation_syndrome
MONDO:0010095	biolink:Disease	ataxia-tapetoretinal degeneration syndrome		UMLS:C1848932|MESH:C564788|Orphanet:1178|OMIM:272600	mondo.json	tapetoretinal degeneration with ataxia	http://purl.obolibrary.org/obo/MONDO_0010095	UMLS:C1848932|Orphanet:1178|https://omim.org/entry/272600|http://identifiers.org/mesh/C564788	ordo_disease
OIO:SubsetProperty	biolink:NamedThing	subset_property			mondo.json		http://www.geneontology.org/formats/oboInOwl#SubsetProperty		
MONDO:0010094	biolink:Disease	spondylocarpotarsal synostosis syndrome	Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.	GARD:4974|UMLS:C1848934|DOID:0090116|ICD9:758.89|GARD:0004974|SCTID:702351004|Orphanet:3275|OMIM:272460|MESH:C535780	mondo.json	spondylocarpotarsal synostosis syndrome|spondylocarpotarsal syndrome|spondylocarpotarsal synostosis|SCT|Synspondylism|congenital scoliosis with unilateral unsegmented bar|Synspondylism congenital|Synspondylism, congenital|scoliosis, congenital, with unilateral unsegmented Bar|congenital synspondylism|vertebral fusion with carpal coalition|scoliosis, congenital with unilateral unsegmented bar	http://purl.obolibrary.org/obo/MONDO_0010094	UMLS:C1848934|Orphanet:3275|https://omim.org/entry/272460|DOID:0090116|http://identifiers.org/mesh/C535780|http://identifiers.org/snomedct/702351004	gard_rare|ordo_malformation_syndrome
MONDO:0010097	biolink:Disease	Tatsumi factor deficiency		OMIM:272650|MESH:C564787|UMLS:C1848931	mondo.json	Tatsumi factor deficiency	http://purl.obolibrary.org/obo/MONDO_0010097	UMLS:C1848931|https://omim.org/entry/272650|http://identifiers.org/mesh/C564787	
MONDO:0010096	biolink:Disease	tardive dyskinesia		MESH:D000071057|UMLS:C0686347|SCTID:102449007|HP:0040141|OMIM:272620	mondo.json	tardive dyskinesia (disease)|tardive dyskinesia	http://purl.obolibrary.org/obo/MONDO_0010096	https://omim.org/entry/272620|http://identifiers.org/snomedct/102449007|UMLS:C0686347|http://identifiers.org/mesh/D000071057	
MONDO:0024520	biolink:Disease	renal hypodysplasia/aplasia 3		OMIM:617805|UMLS:CN703737|EFO:0009137	mondo.json	RHDA3|renal hypodysplasia/aplasia 3	http://purl.obolibrary.org/obo/MONDO_0024520	UMLS:CN703737|https://omim.org/entry/617805	
MONDO:0000553	biolink:Disease	uterine corpus endometrial carcinoma	A endometrial carcinoma (disease) that involves the body of uterus.	DOID:0050939	mondo.json	endometrial carcinoma (disease) of body of uterus|body of uterus endometrial carcinoma (disease)	http://purl.obolibrary.org/obo/MONDO_0000553	DOID:0050939	
HGNC:21365	biolink:NamedThing	LYRM4			mondo.json		http://identifiers.org/hgnc/21365		
MONDO:0000552	biolink:Disease	breast lobular carcinoma	An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal.	EFO:0008509|NCIT:C3771|ICDO:8520/3|DOID:0050938|SCTID:278054005	mondo.json	carcinoma of lobule of mammary gland|lobule of mammary gland carcinoma|lobular carcinoma|lobular breast carcinoma|lobular adenocarcinoma|lobular carcinoma of breast|lobular carcinoma of the breast	http://purl.obolibrary.org/obo/MONDO_0000552	NCIT:C3771|DOID:0050938|http://identifiers.org/snomedct/278054005	
MONDO:0024522	biolink:Disease	amyloidosis, primary localized cutaneous, 1	Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene.	UMLS:C0268398|OMIM:105250	mondo.json	amyloidosis, familial cutaneous lichen|lichen amyloidosis, familial|amyloidosis, primary cutaneous, 1|amyloidosis, primary localized cutaneous, 1|PCA|amyloidosis 9|primary cutaneous amyloidosis caused by mutation in OSMR|PLCA1|amyloidosis, primary localized cutaneous, type 1|OSMR primary cutaneous amyloidosis	http://purl.obolibrary.org/obo/MONDO_0024522	UMLS:C0268398|https://omim.org/entry/105250	
MONDO:0000551	biolink:Disease	retroperitoneal neuroblastoma	A neuroblastoma that involves the retroperitoneal space.	DOID:0050937	mondo.json	neuroblastoma of retroperitoneal space|retroperitoneal space neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0000551	DOID:0050937	
MONDO:0000550	biolink:Disease	extra-adrenal sympathetic paraganglioma	A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas.	EFO:0000489|NCIT:C48576|UMLS:C1257877|DOID:0050936	mondo.json	extra-adrenal pheochromocytoma|extra-adrenal chromaffin neoplasm|extra-adrenal Chromaffinoma|extra-adrenal sympathetic paraganglioma|extra-adrenal sympathetic Paraganglionic neoplasm|extraadrenal pheochromocytoma	http://purl.obolibrary.org/obo/MONDO_0000550	NCIT:C48576|DOID:0050936|UMLS:C1257877	
MONDO:0024521	biolink:Disease	aortic aneurysm, familial abdominal, 1		OMIM:100070	mondo.json	abdominal aortic aneurysm|aortic aneurysm, familial abdominal 1|AAA1|aneurysm, abdominal aortic|aortic aneurysm, familial abdominal, 1	http://purl.obolibrary.org/obo/MONDO_0024521	https://omim.org/entry/100070	
MONDO:0024524	biolink:Disease	dyschromatosis universalis hereditaria 1		OMIM:127500|UMLS:C2675711|MESH:C567273	mondo.json	dyschromatosis universalis hereditaria 1|DUH1	http://purl.obolibrary.org/obo/MONDO_0024524	http://identifiers.org/mesh/C567273|UMLS:C2675711|https://omim.org/entry/127500	
MONDO:0000557	biolink:Disease	obsolete hereditary ataxia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000557		
MONDO:0024523	biolink:Disease	aortic valve disease 1	Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene.	OMIM:109730|DOID:0080333|UMLS:C3887892	mondo.json	aortic valve, calcification of|aortic valve disease 1|bicuspid aortic valve|AOVD1|aortic valve disease|NOTCH1 aortic valve disease|Notch1 aortic valve disease|aortic valve disease caused by mutation in NOTCH1|aortic valve disease caused by mutation in Notch1|aortic valve, bicuspid|aortic stenosis, calcific	http://purl.obolibrary.org/obo/MONDO_0024523	https://omim.org/entry/109730|DOID:0080333|UMLS:C3887892	
MONDO:0000556	biolink:Disease	obsolete autosomal recessive cerebellar ataxia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000556		
MONDO:0024526	biolink:Disease	Zimmermann-Laband syndrome 1	Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene.	OMIM:135500|UMLS:CN032818	mondo.json	fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly|KCNH1 Zimmermann-Laband syndrome|ZLS1|Zimmermann-Laband syndrome 1|Zimmermann-Laband syndrome caused by mutation in KCNH1|Laband syndrome	http://purl.obolibrary.org/obo/MONDO_0024526	https://omim.org/entry/135500|UMLS:CN032818	
MONDO:0000555	biolink:Disease	obsolete autosomal recessive hypophosphatemic rickets			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000555		
MONDO:0024525	biolink:Disease	Fanconi renotubular syndrome 1		OMIM:134600|Orphanet:3337	mondo.json	Fanconi renotubular syndrome|renal Fanconi syndrome|Luder-Sheldon syndrome|adult Fanconi syndrome|DeToni-Debré-Fanconi syndrome|FRTS1|Fanconi syndrome without cystinosis|primary Fanconi renotubular syndrome|primary Fanconi renal syndrome|Fanconi renotubular syndrome 1	http://purl.obolibrary.org/obo/MONDO_0024525	Orphanet:3337|https://omim.org/entry/134600	
MONDO:0000554	biolink:Disease	endocervical adenocarcinoma	An adenocarcinoma that arises from the endocervix. It is the most common type of endocervical adenocarcinoma. The neoplastic epithelium shows a pseudostratified architecture and the malignant cells have enlarged, elongated, and hyperchromatic nuclei.	SCTID:123842006|DOID:0050940|UMLS:C4289591|NCIT:C127907|ONCOTREE:ECAD|UMLS:C1263762	mondo.json	endocervical adenocarcinoma, usual type|endocervix adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0000554	http://identifiers.org/snomedct/123842006|DOID:0050940|NCIT:C127907|UMLS:C1263762|UMLS:C4289591	
MONDO:0012539	biolink:Disease	Joubert syndrome 6	Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene.	DOID:0111001|UMLS:C1853153|OMIM:610688|MESH:C537689	mondo.json	TMEM67 Joubert syndrome|Joubert syndrome 6|Joubert syndrome type 6|JBTS6|Joubert syndrome caused by mutation in TMEM67	http://purl.obolibrary.org/obo/MONDO_0012539	https://omim.org/entry/610688|DOID:0111001|http://identifiers.org/mesh/C537689|UMLS:C1853153	clingen
MONDO:0012537	biolink:Disease	split-hand/foot malformation with long bone deficiency 2		UMLS:C1853156|OMIM:610685|MESH:C565199	mondo.json	SHFLD2|split-hand/foot malformation with long bone deficiency 2	http://purl.obolibrary.org/obo/MONDO_0012537	https://omim.org/entry/610685|http://identifiers.org/mesh/C565199|UMLS:C1853156	
MONDO:0012538	biolink:Disease	nemaline myopathy 7	Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene.	OMIM:610687|UMLS:C1853154|DOID:0110934|MESH:C565198	mondo.json	CFL2 nemaline myopathy|nemaline myopathy type 7|nemaline myopathy 7, autosomal recessive|nemaline myopathy caused by mutation in CFL2|nemaline myopathy 7|NEM7	http://purl.obolibrary.org/obo/MONDO_0012538	https://omim.org/entry/610687|http://identifiers.org/mesh/C565198|UMLS:C1853154|DOID:0110934	
MONDO:0012542	biolink:Disease	psoriasis 8, susceptibility to		OMIM:610707|DOID:0111288	mondo.json	PSORS8|psoriasis 8, susceptibility to|psoriasis susceptibility 8	http://purl.obolibrary.org/obo/MONDO_0012542	https://omim.org/entry/610707|DOID:0111288	
HGNC:4056	biolink:NamedThing	G6PC1			mondo.json		http://identifiers.org/hgnc/4056		
MONDO:0012543	biolink:Disease	optic atrophy 5		GARD:0010201|UMLS:C1853139|DOID:0111438|OMIM:610708|MESH:C537126	mondo.json	optic atrophy 5|OPA5	http://purl.obolibrary.org/obo/MONDO_0012543	http://identifiers.org/mesh/C537126|https://omim.org/entry/610708|DOID:0111438|UMLS:C1853139	
MONDO:0036511	biolink:Disease	childhood malignant kidney neoplasm	A malignant neoplasm that affects the kidney and occurs in childhood.	NCIT:C123907|UMLS:C4086162	mondo.json	childhood malignant renal neoplasm|pediatric kidney cancer|childhood malignant kidney tumor|childhood malignant kidney neoplasm|childhood kidney cancer|kidney cancer of childhood|childhood malignant renal tumor	http://purl.obolibrary.org/obo/MONDO_0036511	NCIT:C123907|UMLS:C4086162	
MONDO:0012540	biolink:Disease	age related macular degeneration 4	Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene.	OMIM:610698|DOID:0110017|MESH:C565196|UMLS:C1853147	mondo.json	ARMD4|age-related macular degeneration caused by mutation in CFH|CFH age-related macular degeneration|age related macular degeneration type 4|macular degeneration, age-related, 4|macular Degeneration, age-related, type 4	http://purl.obolibrary.org/obo/MONDO_0012540	https://omim.org/entry/610698|http://identifiers.org/mesh/C565196|DOID:0110017|UMLS:C1853147	
MONDO:0012541	biolink:Disease	deafness with labyrinthine aplasia, microtia, and microdontia	Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.	ICD9:759.89|UMLS:C1853144|SCTID:702360007|Orphanet:90024|GARD:0010707|OMIM:610706|MESH:C565195	mondo.json	deafness, congenital with inner ear agenesis, microtia, and microdontia|deafness congenital with inner ear agenesis microtia and microdontia|deafness with labyrinthine aplasia microtia and microdontia (LAMM)|congenital deafness with inner ear agenesis microtia and microdontia|deafness with Lamm|deafness, congenital, with labyrinthine aplasia, microtia, and microdontia|microdontia-type I microtia-deafness syndrome|LAMM syndrome|deafness, congenital, with inner EAR agenesis, microtia, and microdontia|deafness with labyrinthine aplasia, microtia, and microdontia	http://purl.obolibrary.org/obo/MONDO_0012541	http://identifiers.org/snomedct/702360007|Orphanet:90024|https://omim.org/entry/610706|http://identifiers.org/mesh/C565195|UMLS:C1853144	ordo_malformation_syndrome
HGNC:4053	biolink:NamedThing	ISG15			mondo.json		http://identifiers.org/hgnc/4053		
MONDO:0012546	biolink:Disease	nephrotic syndrome, type 3	Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene.	OMIM:610725|UMLS:C1853124|DOID:0080382	mondo.json	nephrotic syndrome, early-onset, type 3|NPHS3|nephrotic syndrome, type 3|nephrotic syndrome caused by mutation in PLCE1|PLCE1 nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0012546	https://omim.org/entry/610725|DOID:0080382|UMLS:C1853124	
MONDO:0012547	biolink:Disease	Noonan syndrome 4	Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene.	OMIM:610733|GARD:0010699|MESH:C548082|UMLS:C1853120|DOID:0060582	mondo.json	NS4|Noonan syndrome type 4|Noonan syndrome caused by mutation in SOS1|SOS1 gene related Noonan syndrome|Noonan syndrome 4|SOS1 Noonan syndrome	http://purl.obolibrary.org/obo/MONDO_0012547	https://omim.org/entry/610733|http://identifiers.org/mesh/C548082|UMLS:C1853120|DOID:0060582	gard_rare
MONDO:0012544	biolink:Disease	brachydactyly-syndactyly syndrome	Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.	UMLS:C1853137|DOID:0050689|Orphanet:93409|OMIM:610713|MESH:C565193	mondo.json	Bdsd|BDSD|brachydactyly-syndactyly, Zhao type|brachydactyly-syndactyly syndrome|brachydactyly-syndactyly-oligodactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0012544	https://omim.org/entry/610713|http://identifiers.org/mesh/C565193|DOID:0050689|UMLS:C1853137|Orphanet:93409	ordo_malformation_syndrome
MONDO:0012545	biolink:Disease	neutral lipid storage myopathy		SCTID:699315005|GARD:0010288|OMIM:610717|Orphanet:98908	mondo.json	triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease without ichthyosis|neutral lipid storage disease with myopathy|NLSDM|neutral lipid storage disease with myopathy without ichthyosis	http://purl.obolibrary.org/obo/MONDO_0012545	https://omim.org/entry/610717|http://identifiers.org/snomedct/699315005|Orphanet:98908	ordo_disease
MONDO:0024517	biolink:Disease	schwannomatosis 1		OMIM:162091|UMLS:C4048809	mondo.json	neurilemmomatosis, congenital cutaneous|schwannomatosis, somatic|SWNTS1|schwannomatosis-1, susceptibility to|SCHWANNOMATOSIS 1	http://purl.obolibrary.org/obo/MONDO_0024517	UMLS:C4048809|https://omim.org/entry/162091	
MONDO:0024516	biolink:Disease	familial acne inversa	An instance of hidradenitis suppurativa that is caused by an inherited modification of the individual's genome.	OMIMPS:142690	mondo.json	hereditary hidradenitis suppurativa|ACNINV|familial hidradenitis suppurativa	http://purl.obolibrary.org/obo/MONDO_0024516	https://omim.org/phenotypicSeries/PS142690	
MONDO:0000549	biolink:Disease	cervical neuroblastoma	A relatively uncommon neuroblastoma that is found in the neck.	DOID:0050935	mondo.json	neck neuroblastoma|neuroblastoma of neck	http://purl.obolibrary.org/obo/MONDO_0000549	DOID:0050935	
MONDO:0024519	biolink:Disease	renal hypodysplasia/aplasia 1		GARD:0004791|OMIM:191830	mondo.json	RHDA1|renal agenesis|renal aplasia|renal adysplasia|Selig Benacerraf Greene syndrome|renal hypodysplasia/aplasia 1|renal dysplasia, megalocystis, and sirenomelia|hereditary renal aplasia	http://purl.obolibrary.org/obo/MONDO_0024519	https://omim.org/entry/191830	
MONDO:0000548	biolink:Disease	ovarian clear cell cancer	An invasive malignant neoplasm that arises from the ovary and is characterized by a predominance of clear and hobnail malignant epithelial cells.	NCIT:C40077|DOID:0050934|UMLS:C1518230	mondo.json	ovarian clear cell carcinoma|malignant ovarian clear cell neoplasm|clear-cell ovarian carcinoma|malignant ovarian clear cell tumor	http://purl.obolibrary.org/obo/MONDO_0000548	NCIT:C40077|DOID:0050934|UMLS:C1518230	
MONDO:0024518	biolink:Disease	reactive thrombocytosis	A thrombocytosis caused by an underlying condition, such as an infection.	UMLS:C0457506|ICD9:286.9|SCTID:234500001	mondo.json	secondary thrombocytosis	http://purl.obolibrary.org/obo/MONDO_0024518	http://identifiers.org/snomedct/234500001|UMLS:C0457506	
MONDO:0000547	biolink:Disease	obsolete ovarian serous carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000547		
UBERON:0008188	biolink:AnatomicalEntity	tendon of biceps brachii			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008188		
HGNC:4057	biolink:NamedThing	G6PD			mondo.json		http://identifiers.org/hgnc/4057		
MONDO:0000564	biolink:Disease	obsolete cerebellar ataxia, mental retardation and dysequlibrium syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000564		
MONDO:0000563	biolink:Disease	GRID2-related autosomal dominant spinocerebellar ataxia		DOID:0050988	mondo.json	GRID2-related spinocerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0000563	DOID:0050988	
ENVO:00005800	biolink:NamedThing	desert sand	Sand which is part of a desert.		mondo.json		http://purl.obolibrary.org/obo/ENVO_00005800		
MONDO:0000562	biolink:Disease	obsolete hypomyelinating leukoencephalopathy		DOID:0050987	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000562		
MONDO:0000561	biolink:Disease	obsolete spinocerebellar ataxia type 16			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000561		
MONDO:0000568	biolink:Disease	autoimmune disorder of central nervous system	A hypersensitivity reaction type II disease that involves the central nervous system.	DOID:0060004	mondo.json	central nervous system autoimmune disease|central nervous system hypersensitivity reaction type II disease	http://purl.obolibrary.org/obo/MONDO_0000568	DOID:0060004	
MONDO:0024512	biolink:Disease	spondyloarthropathy, susceptibility to		UMLS:CN118840|OMIMPS:106300	mondo.json	SPDA	http://purl.obolibrary.org/obo/MONDO_0024512	https://omim.org/phenotypicSeries/PS106300|UMLS:CN118840	predisposition
MONDO:0000567	biolink:Disease	obsolete C1 inhibitor deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000567		
MONDO:0000566	biolink:Disease	obsolete substance withdrawal disorder			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000566		
MONDO:0000565	biolink:Disease	infective endocarditis	Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called 'endocarditis,' although it is important to distinguish it from non-infective endocarditis. IE is caused bybacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damagethe heart and cause serious and sometimes fatal complications. It can develop quickly or slowly depending on what type of germ is causing it and whether there is an underlying heart problem. Common symptoms of IE are fever and other flu-like symptoms, but signs and symptoms can vary. It can also cause problems in many other parts of the body besides the heart. IE is typically treated with antibiotics for several weeks; some individuals may need heart surgery to repair or replace heart valves or remove infected heart tissue.	SCTID:233850007|Orphanet:570762|NCIT:C78265|GARD:0006337|DOID:0060000|ICD9:136.9	mondo.json	endocarditis, infective|endocarditis infective	http://purl.obolibrary.org/obo/MONDO_0000565	DOID:0060000|http://identifiers.org/snomedct/233850007|Orphanet:570762|NCIT:C78265	gard_rare
MONDO:0012528	biolink:Disease	hypogonadotropic hypogonadism 4 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene.	UMLS:C3552343|ICD10CM:E23.0|DOID:0090077|OMIM:610628|GARD:0010772|MESH:C565696	mondo.json	PROK2 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism caused by mutation in PROK2|Kallman syndrome 4|hypogonadotropic hypogonadism 4 with or without anosmia|KAL4|HH4|Kallmann syndrome 4	http://purl.obolibrary.org/obo/MONDO_0012528	UMLS:C3552343|https://omim.org/entry/610628|http://identifiers.org/mesh/C565696|DOID:0090077	gard_rare
MONDO:0012529	biolink:Disease	Diamond-Blackfan anemia 3	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene.	GARD:0010241|MESH:C536355|OMIM:610629|UMLS:C1857719	mondo.json	RPS24 Diamond-Blackfan anemia|DBA3|Diamond-Blackfan Anemia type 3|Diamond-Blackfan anemia 3|Diamond-Blackfan anemia caused by mutation in RPS24|anemia Diamond-Blackfan 3	http://purl.obolibrary.org/obo/MONDO_0012529	https://omim.org/entry/610629|UMLS:C1857719|http://identifiers.org/mesh/C536355	gard_rare
MONDO:0012526	biolink:Disease	hereditary angioedema type 3	Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.	OMIM:610618|Orphanet:100054|ICD9:277.6|MESH:D056828|SCTID:427167008	mondo.json	inherited estrogen-associated angioedema|HAE3|HAE-III|hereditary angioneurotic edema type 3|hereditary angioedema with normal C1 inhibitor activity|Hae with normal C1 inhibitor concentration and function|angioedema, hereditary, type 3|angioedema, hereditary, type III|inherited estrogen-dependent angioedema|estrogen-related Hae|F12 hereditary angioedema|inherited estrogen-dependent angioneurotic edema|angioedema, hereditary, 3|HAE 3|estrogen-sensitive Hae|hereditary angioedema caused by mutation in F12|inherited estrogen-associated angioneurotic edema|hereditary angioedema type 3|Hae 3|angioneurotic edema, hereditary, with normal C1 inhibitor concentration and function	http://purl.obolibrary.org/obo/MONDO_0012526	http://identifiers.org/snomedct/427167008|Orphanet:100054|https://omim.org/entry/610618|http://identifiers.org/mesh/D056828	ordo_etiological_subtype
HP:0001735	biolink:PhenotypicFeature	Acute pancreatitis	A acute form of pancreatitis.	SNOMEDCT_US:197456007|UMLS:C0001339	mondo.json	Pancreatitis, acute|Acute pancreatic inflammation	http://purl.obolibrary.org/obo/HP_0001735		
MONDO:0012527	biolink:Disease	cataract 11 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the PITX3 gene.	OMIM:610623|GARD:0010228|DOID:0110249|Orphanet:98993|MESH:C535344	mondo.json	PITX3 early-onset non-syndromic cataract|cataract 11, syndromic, autosomal recessive|posterior polar cataract 4|cataract, posterior polar, 4|CTPP4|Posterior polar cataract, 4|Cpp4|CPP4|cataract 11 with microphthalmia and neurodevelopmental abnormalities|early-onset non-syndromic cataract caused by mutation in PITX3|cataract 11, multiple types|CTRCT11	http://purl.obolibrary.org/obo/MONDO_0012527	https://omim.org/entry/610623|http://identifiers.org/mesh/C535344|DOID:0110249	
MONDO:0000560	biolink:Disease	obsolete spinocerebellar ataxia type 4			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000560		
MONDO:0012531	biolink:Disease	xeroderma pigmentosum group B	Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene.	Orphanet:276252|UMLS:C0268136|GARD:0005625|OMIM:610651|MESH:C562590|DOID:0110850|NCIT:C3966|SCTID:1073003	mondo.json	xeroderma pigmentosum, complementation group type B|ERCC3 xeroderma pigmentosum|xeroderma pigmentosum group B|XP, Group B|XPBC|xeroderma pigmentosum caused by mutation in ERCC3|XP-B|XPB/CS|xeroderma pigmentosum B/Cockayne syndrome|XP group B|xeroderma pigmentosum, complementation group B|xeroderma pigmentosum group type B|XPB|xeroderma pigmentosum, type 2|xeroderma pigmentosum, group B	http://purl.obolibrary.org/obo/MONDO_0012531	NCIT:C3966|http://identifiers.org/snomedct/1073003|https://omim.org/entry/610651|DOID:0110850|http://identifiers.org/mesh/C562590|UMLS:C0268136	gard_rare
MONDO:0012532	biolink:Disease	hereditary hemorrhagic telangiectasia type 4		GARD:0010615|OMIM:610655|MESH:C565691	mondo.json	HHT4|telangiectasia, hereditary hemorrhagic, type 4	http://purl.obolibrary.org/obo/MONDO_0012532	https://omim.org/entry/610655|http://identifiers.org/mesh/C565691	gard_rare
HGNC:4065	biolink:NamedThing	GAA			mondo.json		http://identifiers.org/hgnc/4065		
MONDO:0012530	biolink:Disease	palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome	Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.	Orphanet:85112|OMIM:610644|MESH:C567165	mondo.json	palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX SEX reversal|palmoplantar hyperkeratosis and true hermaphroditism|palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal|palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome	http://purl.obolibrary.org/obo/MONDO_0012530	http://identifiers.org/mesh/C567165|Orphanet:85112|https://omim.org/entry/610644	ordo_disease
HP:0001732	biolink:PhenotypicFeature	Abnormality of the pancreas	An abnormality of the pancreas.	SNOMEDCT_US:3855007|UMLS:C4025751|UMLS:C0030286|MSH:D010182	mondo.json	Pancreatic disease|Abnormality of the pancreas	http://purl.obolibrary.org/obo/HP_0001732		
MONDO:0012535	biolink:Disease	holoprosencephaly, recurrent infections, and monocytosis		MESH:C538328|GARD:0010055|OMIM:610680|UMLS:C1853187	mondo.json	holoprosencephaly, recurrent infections, and monocytosis	http://purl.obolibrary.org/obo/MONDO_0012535	http://identifiers.org/mesh/C538328|https://omim.org/entry/610680|UMLS:C1853187	gard_rare
HP:0001733	biolink:PhenotypicFeature	Pancreatitis	The presence of inflammation in the pancreas.	MSH:D010195|SNOMEDCT_US:75694006|UMLS:C0030305	mondo.json	Pancreatic inflammation	http://purl.obolibrary.org/obo/HP_0001733		
MONDO:0012536	biolink:Disease	osteogenesis imperfecta type 7	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene.	SCTID:254111008|UMLS:C1853162|Orphanet:216804|Orphanet:216812|OMIM:610682|Orphanet:216820|DOID:0110337|GARD:0008701	mondo.json	osteogenesis imperfecta type 7|osteogenesis imperfecta, type IIb, formerly|osteogenesis imperfecta caused by mutation in CRTAP|osteogenesis imperfecta, type IIb|osteogenesis imperfecta type VII|osteogenesis imperfecta, type VII|OI type 7|OI type VII|OI7|CRTAP osteogenesis imperfecta|osteogenesis imperfecta, type 7|OI, type 7	http://purl.obolibrary.org/obo/MONDO_0012536	https://omim.org/entry/610682|http://identifiers.org/snomedct/254111008|DOID:0110337|UMLS:C1853162	
MONDO:0012533	biolink:Disease	autism, susceptibility to, 7		OMIM:610676	mondo.json	AUTS7|autism susceptibility 7|autism, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0012533	https://omim.org/entry/610676	predisposition
HGNC:4061	biolink:NamedThing	SLC37A4			mondo.json		http://identifiers.org/hgnc/4061		
MONDO:0012534	biolink:Disease	combined oxidative phosphorylation defect type 4	Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.	OMIM:610678|DOID:0111494|SCTID:766876004|UMLS:C1857682|Orphanet:254925|MESH:C565690	mondo.json	combined oxidative phosphorylation deficiency caused by mutation in TUFM|COXPD4|combined oxidative phosphorylation deficiency type 4|combined oxidative phosphorylation defect type 4|TUFM combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 4	http://purl.obolibrary.org/obo/MONDO_0012534	https://omim.org/entry/610678|UMLS:C1857682|DOID:0111494|http://identifiers.org/mesh/C565690|Orphanet:254925|http://identifiers.org/snomedct/766876004	ordo_disease
MONDO:0024506	biolink:Disease	Adams-Oliver syndrome 1	Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene.	UMLS:CN028867|OMIM:100300	mondo.json	aplasia cutis congenita with terminal transverse limb defects|ARHGAP31 Adams-Oliver syndrome|Adams-Oliver syndrome 1|absence defect of limbs, scalp, and skull|Adams-Oliver syndrome caused by mutation in ARHGAP31|AOS|congenital scalp defects with distal limb reduction anomalies|AOS1|aplasia cutis congenita, congenital heart defect, and frontonasal cysts	http://purl.obolibrary.org/obo/MONDO_0024506	https://omim.org/entry/100300|UMLS:CN028867	
CHR:9606-chr13q12.3	biolink:NamedThing	13q12.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr13q12.3		
MONDO:0024505	biolink:Disease	obsolete disorder by anatomical region	OBSOLETE. A broad grouping of diseases based on major body subdivisions.	UMLS:C1290853|SCTID:123946008	mondo.json	disease by body site|disorder of anatomical|disorder by body site|disorder of organism subdivision|disease of organism subdivision	http://purl.obolibrary.org/obo/MONDO_0024505	UMLS:C1290853|http://identifiers.org/snomedct/123946008	metaclass
MONDO:0024508	biolink:Disease	epilepsy, hot water, 1		OMIM:613339	mondo.json	bathing epilepsy|water immersion epilepsy|epilepsy, hot water, 1|HWE1	http://purl.obolibrary.org/obo/MONDO_0024508	https://omim.org/entry/613339	
MONDO:0000559	biolink:Disease	obsolete MONDO:0000559			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000559		
MONDO:0000558	biolink:Disease	obsolete spastic ataxia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000558		
MONDO:0024507	biolink:Disease	aniridia 1		OMIM:106210|SCTID:253231007	mondo.json	aniridia 1|aniridia|aniridia II, formerly|aniridia II|cataract with late-onset corneal dystrophy|cataract, congenital, with late-onset corneal dystrophy|AN1	http://purl.obolibrary.org/obo/MONDO_0024507	https://omim.org/entry/106210|http://identifiers.org/snomedct/253231007	
MONDO:0000531	biolink:Disease	bronchus mucoepidermoid carcinoma	A mucoepidermoid carcinoma that involves the bronchus.	DOID:0050916	mondo.json	bronchus mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0000531	DOID:0050916	
MONDO:0000530	biolink:Disease	rectum adenoma	An adenoma that arises from the rectum. The group of rectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.	DOID:0050915|UMLS:C1302652|NCIT:C5546|SCTID:399730005	mondo.json	rectum adenoma|adenoma of rectum|adenoma of the rectum|rectal adenoma	http://purl.obolibrary.org/obo/MONDO_0000530	UMLS:C1302652|http://identifiers.org/snomedct/399730005|DOID:0050915|NCIT:C5546	
MONDO:0024500	biolink:Disease	duodenal neuroendocrine neoplasm	A neuroendocrine neoplasm that involves the duodenum.		mondo.json	duodenum neuroendocrine tumor|duodenum neuroendocrine neoplasm|duodenum neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of duodenum|duodenum NET	http://purl.obolibrary.org/obo/MONDO_0024500		
MONDO:0000535	biolink:Disease	tonsil squamous cell carcinoma	A squamous cell carcinoma that involves the tonsil.	DOID:0050920	mondo.json	tonsil squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0000535	DOID:0050920	
MONDO:0024502	biolink:Disease	gallbladder neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the gallbladder. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	UMLS:C3273115|NCIT:C96917	mondo.json	gall bladder neuroendocrine tumor|gallbladder neuroendocrine neoplasm|gall bladder neuroendocrine neoplasm|gall bladder neuroendocrine tumor, well differentiated, low or intermediate grade|gall bladder NET|neuroendocrine neoplasm of gall bladder	http://purl.obolibrary.org/obo/MONDO_0024502	NCIT:C96917|UMLS:C3273115	
MONDO:0024501	biolink:Disease	appendix neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the appendix. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	NCIT:C60709	mondo.json	vermiform appendix NET|neuroendocrine neoplasm of vermiform appendix|appendix neuroendocrine neoplasm|vermiform appendix neuroendocrine tumor|vermiform appendix neuroendocrine neoplasm|vermiform appendix neuroendocrine tumor, well differentiated, low or intermediate grade	http://purl.obolibrary.org/obo/MONDO_0024501	NCIT:C60709	
MONDO:0000534	biolink:Disease	trachea mucoepidermoid carcinoma	A mucoepidermoid carcinoma that involves the trachea.	SCTID:707379000|UMLS:C3873401|DOID:0050919	mondo.json	trachea mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0000534	http://identifiers.org/snomedct/707379000|UMLS:C3873401|DOID:0050919	
MONDO:0024504	biolink:Disease	enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor	A usually slow-growing, grade 1 pancreatic neuroendocrine tumor that secretes serotonin. When it metastasizes to the liver, it produces the clinical symptoms of the carcinoid syndrome.	Orphanet:506090|NCIT:C4446	mondo.json	enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor|carcinoid neoplasm of the pancreas|serotonin-producing neuroendocrine tumor of pancreas|serotonin-producing PNET|serotonin-producing pancreatic neuroendocrine tumor|serotonin-producing tumor of pancreas|pancreatic serotonin producing tumor|pancreatic carcinoid tumor|pancreatic serotonin producing neoplasm|serotonin-producing tumor of the pancreas|carcinoid tumor of pancreas|EC cell, serotonin producing pancreatic neuroendocrine tumor|carcinoid tumor of the pancreas|serotonin-producing pancreatic NET|carcinoid neoplasm of pancreas|EC cell, serotonin producing pancreatic NET	http://purl.obolibrary.org/obo/MONDO_0024504	Orphanet:506090|NCIT:C4446	ordo_disease
MONDO:0000533	biolink:Disease	obsolete vaginal carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000533		
MONDO:0024503	biolink:Disease	digestive system neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas).	MESH:C535650|Orphanet:100092|GARD:0002437|NCIT:C27721|UMLS:CN197371	mondo.json	digestive system neuroendocrine tumor, well differentiated, low or intermediate grade|alimentary part of gastrointestinal system neuroendocrine neoplasm|gastroenteropancreatic endocrine tumor|GEP tumors|alimentary part of gastrointestinal system neuroendocrine tumor|carcinoid tumor of digestive system|carcinoid tumor|gastroenteropancreatic neuroendocrine neoplasm|GEP-NET|alimentary part of gastrointestinal system neuroendocrine tumor, well differentiated, low or intermediate grade|alimentary part of gastrointestinal system NET|digestive system neuroendocrine neoplasm|neuroendocrine neoplasm of alimentary part of gastrointestinal system|neuroendocrine neoplasm of digestive system|GEP-NEN|digestive system NET|gastrointestinal system neuroendocrine neoplasm|gastrointestinal neuroendocrine neoplasm|gastro-enteropancreatic neuroendocrine tumor|digestive system neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0024503	NCIT:C27721|UMLS:CN197371|Orphanet:100092|http://identifiers.org/mesh/C535650	disease_grouping|gard_rare|ordo_group_of_disorders
MONDO:0000532	biolink:Disease	lung combined type small cell adenocarcinoma	A lung combined type small cell carcinoma that has material basis in epithelial tissue of glandular origin.	DOID:0050917	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000532	DOID:0050917	
MONDO:0012517	biolink:Disease	atypical Gaucher disease due to saposin C deficiency	Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene.	DOID:0110961|Orphanet:309252|OMIM:610539|UMLS:C1864651|GARD:0012503|MESH:C566435	mondo.json	atypical Gaucher's disease due to saposin c deficiency|atypical Gaucher disease due to saposin C deficiency|PSAP Gaucher disease|Gaucher disease, atypical, due to saposin C deficiency|Gaucher disease caused by mutation in PSAP|Gaucher disease, atypical	http://purl.obolibrary.org/obo/MONDO_0012517	Orphanet:309252|DOID:0110961|UMLS:C1864651|https://omim.org/entry/610539|http://identifiers.org/mesh/C566435	ordo_clinical_subtype
MONDO:0012518	biolink:Disease	congenital myasthenic syndrome 12	Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene.	OMIM:610542|DOID:0110660	mondo.json	congenital myasthenia 12 with tubular aggregates|myasthenic syndrome, congenital, 12|GFPT1 congenital myasthenic syndromes with glycosylation defect|CMS12|congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1|myasthenic syndrome, congenital, with tubular aggregates 1|congenital myasthenic syndrome type 12|myasthenic syndrome, congenital, type 12|myasthenia, congenital, 12, with tubular aggregates	http://purl.obolibrary.org/obo/MONDO_0012518	DOID:0110660|https://omim.org/entry/610542	
MONDO:0012515	biolink:Disease	glaucoma 1, open angle, M		UMLS:C1864653|OMIM:610535|MESH:C566436	mondo.json	GLC1M|JOAG1M|glaucoma 1, open angle, M	http://purl.obolibrary.org/obo/MONDO_0012515	UMLS:C1864653|https://omim.org/entry/610535|http://identifiers.org/mesh/C566436	
MONDO:0012516	biolink:Disease	mandibulofacial dysostosis-microcephaly syndrome	Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.	DOID:0080196|Orphanet:79113|SCTID:711543008|UMLS:C1864652|OMIM:610536|MESH:C537405|GARD:0010056	mondo.json	mandibulofacial dysostosis with microcephaly|MFDM|Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome|Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate|mandibulofacial dysostosis-microcephaly syndrome|MFDM syndrome|Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate|mandibulofacial dysostosis, Guion-Almeida type|MFDGA|Growth and intellectual disability, mandibulofacial dysostosis, microcephaly, and cleft palate	http://purl.obolibrary.org/obo/MONDO_0012516	UMLS:C1864652|http://identifiers.org/snomedct/711543008|DOID:0080196|https://omim.org/entry/610536|http://identifiers.org/mesh/C537405|Orphanet:79113	ordo_malformation_syndrome
HP:0001702	biolink:PhenotypicFeature	Abnormal tricuspid valve morphology	Any structural anomaly of the tricuspid valve.	UMLS:C4025753|EPCC:06.01.00	mondo.json	Abnormality of the tricuspid valve	http://purl.obolibrary.org/obo/HP_0001702		
MONDO:0012519	biolink:Disease	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders.	UMLS:C1864648|OMIM:610543|GARD:0010754|Orphanet:353281	mondo.json	Rsts deletion syndrome|16p13.3 deletion syndrome|chromosome 16p13.3 deletion syndrome|Rubinstein-Taybi deletion syndrome|chromosome 16p13.3 deletion syndrome, proximal	http://purl.obolibrary.org/obo/MONDO_0012519	Orphanet:353281|UMLS:C1864648|https://omim.org/entry/610543	gard_rare|ordo_clinical_subtype
NCBITaxon:1891714	biolink:OrganismalEntity	Betapolyomavirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1891714		
MONDO:0012520	biolink:Disease	insulin-resistance syndrome type A	Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.	OMIM:610549|EFO:1001503|MESH:C562710|GARD:0003008|NCIT:C131836|Orphanet:2297	mondo.json	Iran, type a|diabetes mellitus, insulin-resistant, with acanthosis nigricans|diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a|insulin-resistant acanthosis nigricans, type A|insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans|insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism|type A insulin resistance syndrome	http://purl.obolibrary.org/obo/MONDO_0012520	http://identifiers.org/mesh/C562710|Orphanet:2297|https://omim.org/entry/610549|NCIT:C131836	ordo_disease
MONDO:0012521	biolink:Disease	herpes simplex encephalitis	Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness.	NCIT:C84762|ICD10EXP:G05.1*|GARD:0006649|MESH:D020803|ICD10EXP:B00.4+|Orphanet:1930	mondo.json	Herpes simplex meningo-encephalitis|HSV encephalitis|Simplexvirus infectious encephalitis|Simplexvirus caused infectious encephalitis|HSE|Herpes simplex virus encephalitis|HSVE|Herpes simplex neuroinvasion|herpetic encephalitis	http://purl.obolibrary.org/obo/MONDO_0012521	NCIT:C84762|http://identifiers.org/mesh/D020803|Orphanet:1930	ordo_disease|gard_rare
HGNC:4076	biolink:NamedThing	GABRA2			mondo.json		http://identifiers.org/hgnc/4076		
HGNC:4075	biolink:NamedThing	GABRA1			mondo.json		http://identifiers.org/hgnc/4075		
MONDO:0012524	biolink:Disease	corticosterone methyloxidase type 2 deficiency		UMLS:C3463917|OMIM:610600	mondo.json	hyperreninemic hypoaldosteronism, familial, 1|Cmo 2 deficiency|corticosterone methyloxidase type II deficiency|18-oxidase deficiency|aldosterone deficiency due to deficiency of steroid 18-oxidase|hypoaldosteronism, congenital, due to CMO II deficiency|steroid 18-oxidase deficiency|aldosterone deficiency 2	http://purl.obolibrary.org/obo/MONDO_0012524	https://omim.org/entry/610600|UMLS:C3463917	
HP:0001700	biolink:PhenotypicFeature	Myocardial necrosis	Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction).	SNOMEDCT_US:251061000|UMLS:C1442837	mondo.json		http://purl.obolibrary.org/obo/HP_0001700		
MONDO:0012525	biolink:Disease	Leber congenital amaurosis 12	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene.	OMIM:610612|GARD:0010489|MESH:C565697|DOID:0110080|ICD10CM:H35.5	mondo.json	RD3 Leber congenital amaurosis|Leber congenital amaurosis caused by mutation in RD3|LCA12|Leber congenital amaurosis 12|amaurosis congenita of Leber, type 12|Leber congenital amaurosis type 12	http://purl.obolibrary.org/obo/MONDO_0012525	https://omim.org/entry/610612|DOID:0110080|http://identifiers.org/mesh/C565697	gard_rare
MONDO:0012522	biolink:Disease	diabetes mellitus, transient neonatal, 3	Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene.	SCTID:609581006|MESH:C566432|OMIM:610582	mondo.json	diabetes mellitus, transient neonatal 3|diabetes mellitus, type II, autosomal dominant|diabetes mellitus, transient neonatal, 3|diabetes mellitus, transient neonatal, type 3|transient neonatal diabetes mellitus (disease) caused by mutation in KCNJ11|Tndm3|KCNJ11 transient neonatal diabetes mellitus (disease)	http://purl.obolibrary.org/obo/MONDO_0012522	https://omim.org/entry/610582|http://identifiers.org/mesh/C566432|http://identifiers.org/snomedct/609581006	
MONDO:0012523	biolink:Disease	retinitis pigmentosa 36	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD gene.	UMLS:C1864621|OMIM:610599|GARD:0010403|DOID:0110405|ICD10CM:H35.5|MESH:C566431	mondo.json	RP 36|retinitis pigmentosa type 36|retinitis pigmentosa caused by mutation in PRCD|retinitis pigmentosa 36|PRCD retinitis pigmentosa|RP36	http://purl.obolibrary.org/obo/MONDO_0012523	UMLS:C1864621|https://omim.org/entry/610599|http://identifiers.org/mesh/C566431|DOID:0110405	gard_rare
MONDO:0000528	biolink:Disease	obsolete MONDO:0000528			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000528		
MONDO:0000527	biolink:Disease	colon adenoma	An adenoma that arises from the colon. The group of colonic adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.	NCIT:C3864|DOID:0050912|UMLS:C0850572	mondo.json	adenoma of the colon|colonic adenoma|adenoma of colon|colon adenoma	http://purl.obolibrary.org/obo/MONDO_0000527	DOID:0050912|UMLS:C0850572|NCIT:C3864	
MONDO:0000526	biolink:Disease	obsolete appendix carcinoid tumor	OBSOLETE. A carcinoid tumor (disease) that involves the vermiform appendix.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0000526		
MONDO:0000525	biolink:Disease	cecum villous adenoma	A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.	NCIT:C5520|UMLS:C1332869|DOID:0050910|EFO:1000155	mondo.json	villous adenoma of the cecum|villous adenoma of cecum|caecum villous adenoma|cecal villous adenoma|cecum villous adenoma|caecum adenoma|cecum adenoma	http://purl.obolibrary.org/obo/MONDO_0000525	NCIT:C5520|UMLS:C1332869|DOID:0050910	
MONDO:0000529	biolink:Disease	obsolete MONDO:0000529			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000529		
MONDO:0000542	biolink:Disease	obsolete duodenum adenoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000542		
MONDO:0000541	biolink:Disease	jejunal adenocarcinoma	A adenocarcinoma that involves the jejunum.	UMLS:C4072935|HP:0030411|DOID:0050926	mondo.json	jejunal adenocarcinoma|jejunal adenocarcinoma (disease)|jejunum adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0000541	DOID:0050926|UMLS:C4072935	
MONDO:0000540	biolink:Disease	small intestinal neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	SCTID:276818002|UMLS:C0349536|NCIT:C4638|DOID:0050925	mondo.json	small intestine neuroendocrine neoplasm G1|carcinoid tumor of the small intestine|carcinoid tumor of small intestine|small intestine NET G1|small bowel carcinoid tumor|small intestinal NET G1|small intestine carcinoid tumor|small intestine carcinoid tumor (disease)|grade 1 neuroendocrine neoplasm of small intestine|carcinoid tumor of the small bowel|carcinoid tumor of small bowel|small intestine neuroendocrine tumor, well differentiated, low grade|small intestine carcinoid neuroendocrine tumor|small intestinal neuroendocrine tumor G1|small intestinal carcinoid tumor	http://purl.obolibrary.org/obo/MONDO_0000540	NCIT:C4638|DOID:0050925|UMLS:C0349536|http://identifiers.org/snomedct/276818002	
MONDO:0000546	biolink:Disease	obsolete parotid gland adenoid cystic carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000546		
MONDO:0000545	biolink:Disease	sublingual gland adenoid cystic carcinoma	A adenoid cystic carcinoma that involves the sublingual gland.	DOID:0050930	mondo.json	sublingual gland adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0000545	DOID:0050930	
MONDO:0000544	biolink:Disease	mucosal melanoma	A melanoma that arises from a mucosal site.	NCIT:C114828|UMLS:C3898222|DOID:0050929	mondo.json	mucosal melanoma	http://purl.obolibrary.org/obo/MONDO_0000544	UMLS:C3898222|DOID:0050929|NCIT:C114828	
MONDO:0000543	biolink:Disease	ovarian melanoma	A melanoma (disease) that involves the ovary.	DOID:0050928	mondo.json	ovary metastatic melanoma|melanoma (disease) of ovary|ovary melanoma (disease)|metastatic melanoma of ovary	http://purl.obolibrary.org/obo/MONDO_0000543	DOID:0050928	
MONDO:0012506	biolink:Disease	arrhythmogenic right ventricular dysplasia 11	Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene.	MESH:C566471|OMIM:610476|DOID:0110082	mondo.json	arrhythmogenic right ventricular dysplasia, familial, type 11|arrhythmogenic right ventricular dysplasia type 11|ARVC11|arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair|familial arrhythmogenic right ventricular dysplasia 11|arrhythmogenic right ventricular dysplasia, familial, 11|arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair|ARVD11|DSC2 familial isolated arrhythmogenic right ventricular dysplasia|arrhythmogenic right ventricular dysplasia, familial, 11, and mild palmoplantar keratoderma with or without woolly hair|arrhythmogenic right ventricular cardiomyopathy 11|arrhythmogenic right ventricular dysplasia 11|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in DSC2	http://purl.obolibrary.org/obo/MONDO_0012506	DOID:0110082|https://omim.org/entry/610476|http://identifiers.org/mesh/C566471	
HGNC:4081	biolink:NamedThing	GABRB1			mondo.json		http://identifiers.org/hgnc/4081		
MONDO:0012507	biolink:Disease	retinal cone dystrophy 4	Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene.	GARD:0010650|MESH:C566470|OMIM:610478|UMLS:C1864849	mondo.json	retinal cone dystrophy type 4|RCD4|retinal cone dystrophy 4|CACNA2D4 cone dystrophy|cone dystrophy caused by mutation in CACNA2D4	http://purl.obolibrary.org/obo/MONDO_0012507	UMLS:C1864849|https://omim.org/entry/610478|http://identifiers.org/mesh/C566470	gard_rare
MONDO:0012504	biolink:Disease	camptodactyly-tall stature-scoliosis-hearing loss syndrome	Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.	Orphanet:85164|DOID:0111160|UMLS:C1864852|MESH:C537975|OMIM:610474|GARD:0010012	mondo.json	camptodactyly, tall stature, and hearing loss syndrome|CATSHLS|CATSHL syndrome	http://purl.obolibrary.org/obo/MONDO_0012504	UMLS:C1864852|https://omim.org/entry/610474|Orphanet:85164|DOID:0111160|http://identifiers.org/mesh/C537975	ordo_disease|gard_rare
MONDO:0012505	biolink:Disease	pigmented nodular adrenocortical disease, primary, 2	Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene.	MESH:C566472|UMLS:C1864851|OMIM:610475	mondo.json	pigmented nodular adrenocortical disease, primary, type 2|PDE11A primary pigmented nodular adrenocortical disease|primary pigmented nodular adrenocortical disease caused by mutation in PDE11A|PPNAD2|pigmented nodular adrenocortical disease, primary, 2|Cushing syndrome, adrenal, due to PPNAD2|pigmented micronodular adrenocortical disease, primary, 2	http://purl.obolibrary.org/obo/MONDO_0012505	UMLS:C1864851|https://omim.org/entry/610475|http://identifiers.org/mesh/C566472	
HP:0001718	biolink:PhenotypicFeature	Mitral stenosis	An abnormal narrowing of the orifice of the mitral valve.	SNOMEDCT_US:79619009|MSH:D008946|ICD-10:Q23.2|EPCC:06.02.92|UMLS:C0026269|Fyler:1511	mondo.json	Mitral valve stenosis	http://purl.obolibrary.org/obo/HP_0001718		
HGNC:21350	biolink:NamedThing	PDHX			mondo.json		http://identifiers.org/hgnc/21350		
MONDO:0012508	biolink:Disease	agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome	Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation.	GARD:0010011|OMIM:610483|SCTID:722281001|MESH:C538055|Orphanet:83617|UMLS:C1864848	mondo.json	agammaglobulinemia, microcephaly, and severe dermatitis	http://purl.obolibrary.org/obo/MONDO_0012508	Orphanet:83617|http://identifiers.org/snomedct/722281001|UMLS:C1864848|http://identifiers.org/mesh/C538055|https://omim.org/entry/610483	ordo_malformation_syndrome
MONDO:0012509	biolink:Disease	pigmented nodular adrenocortical disease, primary, 1	Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene.	OMIM:610489|MESH:C566469	mondo.json	PRKAR1A primary pigmented nodular adrenocortical disease|primary pigmented nodular adrenocortical disease caused by mutation in PRKAR1A|pigmented micronodular adrenocortical disease, primary, 1|pigmented nodular adrenocortical disease, primary, type 1|PPNAD1|adrenocortical nodular dysplasia, primary|pigmented nodular adrenocortical disease, primary, 1|Cushing syndrome, adrenal, due to PPNAD1	http://purl.obolibrary.org/obo/MONDO_0012509	https://omim.org/entry/610489|http://identifiers.org/mesh/C566469	
MONDO:0012510	biolink:Disease	combined oxidative phosphorylation defect type 2	Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.	DOID:0111483|OMIM:610498|MESH:C566468|UMLS:C1864843|Orphanet:254920|SCTID:764943000	mondo.json	corpus callosum, agenesis of, with Dysmorphism and fatal lactic acidosis|COXPD2|combined oxidative phosphorylation deficiency type 2|MRPS16 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in MRPS16|combined oxidative phosphorylation deficiency 2	http://purl.obolibrary.org/obo/MONDO_0012510	UMLS:C1864843|https://omim.org/entry/610498|http://identifiers.org/mesh/C566468|http://identifiers.org/snomedct/764943000|DOID:0111483|Orphanet:254920	ordo_disease
HGNC:4087	biolink:NamedThing	GABRG2			mondo.json		http://identifiers.org/hgnc/4087		
MONDO:0012513	biolink:Disease	maturity-onset diabetes of the young type 7	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KLF11 gene.	UMLS:C1864839|SCTID:609574004|MESH:C566466|GARD:0010661|OMIM:610508|DOID:0111106	mondo.json	maturity-onset diabetes of the young (disease) caused by mutation in KLF11|KLF11 maturity-onset diabetes of the young (disease)|MODY type 7|diabetes mellitus MODY type 7|maturity-onset diabetes of the young, type VII|maturity-onset diabetes of the young, type 7|MODY KLF11 related|MODY7|type 7 maturity-onset diabetes of the young	http://purl.obolibrary.org/obo/MONDO_0012513	http://identifiers.org/snomedct/609574004|UMLS:C1864839|https://omim.org/entry/610508|http://identifiers.org/mesh/C566466|DOID:0111106	gard_rare
HP:0001710	biolink:PhenotypicFeature	Conotruncal defect	A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle.	UMLS:C1853238	mondo.json	Conotruncal heart defects	http://purl.obolibrary.org/obo/HP_0001710		
MONDO:0012514	biolink:Disease	hypomyelinating leukodystrophy 5	Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.	MESH:C567166|SCTID:702379005|ICD9:341.8|Orphanet:85163|OMIM:610532|UMLS:C1864663|GARD:0011980|DOID:0060793	mondo.json	hypomyelination - congenital cataract|HLD5|hypomyelination-congenital cataract syndrome|leukodystrophy, hypomyelinating, type 5|hypomyelination and congenital cataract|leukodystrophy caused by mutation in FAM126A|hypomyelination and congenital cataract: HCC|FAM126A leukodystrophy|hypomyelinating leukodystrophy type 5|leukodystrophy, hypomyelinating, 5	http://purl.obolibrary.org/obo/MONDO_0012514	DOID:0060793|UMLS:C1864663|http://identifiers.org/mesh/C567166|https://omim.org/entry/610532|Orphanet:85163|http://identifiers.org/snomedct/702379005	ordo_malformation_syndrome
HGNC:4084	biolink:NamedThing	GABRD			mondo.json		http://identifiers.org/hgnc/4084		
MONDO:0012511	biolink:Disease	preterm premature rupture of the membranes	A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation.	DOID:0111144|OMIM:610504|SCTID:312974005|MESH:C563032|NCIT:C92862	mondo.json	PPROM|preterm premature rupture of the membranes, susceptibility to|preterm premature rupture of the membranes	http://purl.obolibrary.org/obo/MONDO_0012511	http://identifiers.org/snomedct/312974005|https://omim.org/entry/610504|DOID:0111144|NCIT:C92862|http://identifiers.org/mesh/C563032	
HGNC:4083	biolink:NamedThing	GABRB3			mondo.json		http://identifiers.org/hgnc/4083		
MONDO:0012512	biolink:Disease	fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.	OMIM:610505|DOID:0111486|SCTID:720951008|Orphanet:168566|MESH:C566467	mondo.json	TSFM combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in TSFM|combined oxidative phosphorylation deficiency 3|fatal mitochondrial disease due to COXPD3|COXPD3|encephalomyopathy, respiratory failure, and lactic acidosis|combined oxidative phosphorylation deficiency type 3|concentric cardiomyopathy, hypotonia, and lactic acidosis	http://purl.obolibrary.org/obo/MONDO_0012512	Orphanet:168566|https://omim.org/entry/610505|http://identifiers.org/mesh/C566467|http://identifiers.org/snomedct/720951008|DOID:0111486	ordo_disease
MONDO:0000539	biolink:Disease	striated muscle rhabdoid tumor	A rhabdoid tumor that involves the striated muscle tissue.	DOID:0050924	mondo.json	striated muscle tissue rhabdoid tumor	http://purl.obolibrary.org/obo/MONDO_0000539	DOID:0050924	
MONDO:0000538	biolink:Disease	obsolete spindle epithelial tumor with thymus-like differentiation tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000538		
MONDO:0000537	biolink:Disease	obsolete gastrointestinal carcinoma			mondo.json	obsolete gastrointestinal carcinoma (disease)	http://purl.obolibrary.org/obo/MONDO_0000537		
MONDO:0000536	biolink:Disease	pharyngeal squamous cell carcinoma	A squamous cell carcinoma that arises from the pharynx.	SCTID:408649007|EFO:1001965|NCIT:C102872|DOID:0050921|UMLS:C1319317	mondo.json	pharyngeal squamous cell carcinoma|pharyngeal squam. cell carcinoma|pharynx squamous cell carcinoma|pharyngeal throat squamous cell cancer|pharyngeal (including hypopharyngeal and oropharyngeal) squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0000536	UMLS:C1319317|http://identifiers.org/snomedct/408649007|DOID:0050921|NCIT:C102872	
MONDO:0000597	biolink:Disease	Munchausen by proxy	A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others.	DOID:0060045|SCTID:95637005|GARD:0007117|MESH:D016735	mondo.json	Munchausen by proxy syndrome|Munchausen syndrome by proxy	http://purl.obolibrary.org/obo/MONDO_0000597	DOID:0060045|http://identifiers.org/snomedct/95637005|http://identifiers.org/mesh/D016735	gard_rare
MONDO:0024564	biolink:Disease	cerebroretinal microangiopathy with calcifications and cysts 1	Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene.	OMIM:612199	mondo.json	Coats plus syndrome caused by mutation in CTC1|Crmcc|CRMCC1|CTC1 Coats plus syndrome|cerebroretinal microangiopathy with calcifications and cysts 1|Coats plus syndrome|cerebroretinal microangiopathy with calcifications and cysts	http://purl.obolibrary.org/obo/MONDO_0024564	https://omim.org/entry/612199	
MONDO:0024563	biolink:Disease	herpes simplex encephalitis, susceptibility to, 1	Any herpes simplex encephalitis in which the cause of the disease is a mutation in the UNC93B1 gene.	OMIM:610551	mondo.json	herpes simplex encephalitis caused by mutation in UNC93B1|encephalopathy, acute, infection-induced, susceptibility to, 1|IIAE1|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 1|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 1|herpes simplex encephalitis, susceptibility to, 1|UNC93B1 herpes simplex encephalitis	http://purl.obolibrary.org/obo/MONDO_0024563	https://omim.org/entry/610551	predisposition
MONDO:0000596	biolink:Disease	paraphilic disorder	Disorders that include recurrent, intense sexually arousing fantasies, sexual urges, or behaviors generally involving nonhuman objects, suffering of oneself or partners, or children or other nonconsenting partners. (from DSM-V)	DOID:0060044|SCTID:50299009|MESH:D010262	mondo.json	Sex deviation|paraphilia disorder|paraphilia|deviation, Sex|disorder of sexual preference|Deviations, Sex|Paraphilias|disorders, Paraphilic|paraphilic disorder|disorder, Paraphilic|Sex Deviations	http://purl.obolibrary.org/obo/MONDO_0000596	http://identifiers.org/mesh/D010262|DOID:0060044|http://identifiers.org/snomedct/50299009	
MONDO:0000595	biolink:Disease	sexual and gender identity disorders	A category of psychiatric disorders characterized by a disturbance in sexual desire and in the psychophysiological changes that make up the sexual response cycle.	SCTID:231532002|NCIT:C92202|DOID:0060043	mondo.json	sexual disorder	http://purl.obolibrary.org/obo/MONDO_0000595	DOID:0060043|http://identifiers.org/snomedct/231532002|NCIT:C92202	
MONDO:0024566	biolink:Disease	febrile seizures, familial, 11		DOID:0111308|UMLS:C3280734|OMIM:614418	mondo.json	convulsions, familial febrile, 11|febrile seizures, familial, 11|FEB11	http://purl.obolibrary.org/obo/MONDO_0024566	DOID:0111308|https://omim.org/entry/614418|UMLS:C3280734	
MONDO:0000594	biolink:Disease	pervasive developmental disorder	A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions.	SCTID:35919005|MESH:D002659|DOID:0060040|NCIT:C97179|ICD9:299.80	mondo.json	pervasive development disorder|pervasive development disorders|pervasive child development disorders	http://purl.obolibrary.org/obo/MONDO_0000594	DOID:0060040|NCIT:C97179|http://identifiers.org/mesh/D002659|http://identifiers.org/snomedct/35919005	
MONDO:0024565	biolink:Disease	ectodermal dysplasia-syndactyly syndrome 1	Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene.	OMIM:613573|UMLS:C3150807	mondo.json	NECTIN4 ectodermal dysplasia-syndactyly syndrome|ectodermal dysplasia-syndactyly syndrome 1|EDSS1|ectodermal dysplasia-syndactyly syndrome caused by mutation in NECTIN4	http://purl.obolibrary.org/obo/MONDO_0024565	UMLS:C3150807|https://omim.org/entry/613573	
MONDO:0024568	biolink:Disease	infantile liver failure syndrome 1	Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene.	OMIM:615438|UMLS:C3809522|GARD:0013114|Orphanet:370088	mondo.json	infantile liver failure syndrome 1|ILFS1|infantile liver failure syndrome type 1|LARS infantile liver failure|Lars infantile liver failure|infantile liver failure caused by mutation in LARS|acute infantile liver failure - multisystemic involvement syndrome|infantile liver failure caused by mutation in Lars	http://purl.obolibrary.org/obo/MONDO_0024568	https://omim.org/entry/615438|UMLS:C3809522|Orphanet:370088	ordo_disease
MONDO:0024567	biolink:Disease	hypotonia, infantile, with psychomotor retardation and characteristic facies 1	Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene.	UMLS:C3809454|OMIM:615419	mondo.json	hypotonia, infantile, with psychomotor retardation and characteristic facies 1|NALCN hypotonia, infantile, with psychomotor retardation and characteristic facies|IHPRF1|Ihprf|hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCN	http://purl.obolibrary.org/obo/MONDO_0024567	https://omim.org/entry/615419|UMLS:C3809454	
MONDO:0000599	biolink:Disease	writing disorder	A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition.	DOID:0060047	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000599	DOID:0060047	
MONDO:0000598	biolink:Disease	aphasia	A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language.	DOID:0060046|ICD10CM:R47.01|MESH:D001037	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000598	DOID:0060046|http://purl.bioontology.org/ontology/ICD10CM/R47.01|http://identifiers.org/mesh/D001037	
MONDO:0024569	biolink:Disease	optic atrophy 8		OMIM:616648|UMLS:C4085249|DOID:0111439	mondo.json	optic atrophy 8|OPA8	http://purl.obolibrary.org/obo/MONDO_0024569	DOID:0111439|https://omim.org/entry/616648	
HGNC:23987	biolink:NamedThing	NDUFA12			mondo.json		http://identifiers.org/hgnc/23987		
HGNC:4092	biolink:NamedThing	GAD1			mondo.json		http://identifiers.org/hgnc/4092		
MONDO:0024560	biolink:Disease	PDA1		OMIM:607411	mondo.json	PDA1|patent ductus arteriosus 1|PDA|patent ductus arteriosus, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0024560	https://omim.org/entry/607411	
UBERON:0035764	biolink:AnatomicalEntity	pulmonary lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035764		
MONDO:0000593	biolink:Disease	obsolete autoimmune disease of skin and connective tissue			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000593		
MONDO:0000592	biolink:Disease	specific developmental disorder	A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.	ICD9:315.8|SCTID:10720004|DOID:0060038	mondo.json	specific delays in development|specific developmental disorder	http://purl.obolibrary.org/obo/MONDO_0000592	DOID:0060038|http://identifiers.org/snomedct/10720004	
UBERON:0035763	biolink:AnatomicalEntity	cavity of cardiac chamber			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035763		
MONDO:0024562	biolink:Disease	sick sinus syndrome 1	Any sick sinus syndrome in which the cause of the disease is a mutation in the SCN5A gene.	OMIM:608567	mondo.json	sick sinus syndrome caused by mutation in SCN5A|sinus rhythm, congenital absence of|sinus node disease, familial, autosomal recessive|sinus bradycardia syndrome, familial|SSS1|SCN5A sick sinus syndrome|sick sinus syndrome, congenital|sick sinus syndrome 1	http://purl.obolibrary.org/obo/MONDO_0024562	https://omim.org/entry/608567	
MONDO:0000591	biolink:Disease	intrinsic cardiomyopathy	A cardiomyopathy that is due to abnormalities in heart muscle cells.	DOID:0060036	mondo.json	primary cardiomyopathy|intrinsic cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0000591	DOID:0060036	
MONDO:0024561	biolink:Disease	vitelliform macular dystrophy 3	Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.	OMIM:608161	mondo.json	vitelliform macular dystrophy caused by mutation in PRPH2|macular dystrophy, vitelliform, 3|vitelliform macular dystrophy, adult-onset|foveomacular dystrophy, adult-onset|PRPH2 vitelliform macular dystrophy|VMD3|foveomacular dystrophy, adult-onset, with or without choroidal neovascularization	http://purl.obolibrary.org/obo/MONDO_0024561	https://omim.org/entry/608161	
MONDO:0000590	biolink:Disease	autoimmune disorder of peripheral nervous system	A hypersensitivity reaction type II disease that involves the peripheral nervous system.	DOID:0060033	mondo.json	peripheral nervous system hypersensitivity reaction type II disease|peripheral nervous system autoimmune disease	http://purl.obolibrary.org/obo/MONDO_0000590	DOID:0060033	
MONDO:0012586	biolink:Disease	coronary artery disease, autosomal dominant 2	Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene.	UMLS:C1970440|MESH:C567045|OMIM:610947	mondo.json	ADCAD2|coronary artery disease, autosomal dominant, 2|LRP6 coronary artery disease|coronary artery disease, autosomal dominant type 2|coronary artery disease, autosomal dominant 2|coronary artery disease caused by mutation in LRP6	http://purl.obolibrary.org/obo/MONDO_0012586	http://identifiers.org/mesh/C567045|UMLS:C1970440|https://omim.org/entry/610947	
HP:0001762	biolink:PhenotypicFeature	Talipes equinovarus	Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.	MEDDRA:10043106|SNOMEDCT_US:397932003|SNOMEDCT_US:249808002|MSH:D003025|Fyler:4171|UMLS:C0009081	mondo.json	Foot, talipes equinovarus|Equinovarus|Pes equinovarus|Club feet|Club foot|Talipes varus|Clubbing of feet|Clubfoot|Clubfeet|Pes equinus	http://purl.obolibrary.org/obo/HP_0001762		hposlim_core
MONDO:0012587	biolink:Disease	hypertension, essential, susceptibility to, 7		OMIM:610948	mondo.json	hypertension, essential, susceptibility to, 7|hypertension, essential, susceptibility to, type 7|Hyt7	http://purl.obolibrary.org/obo/MONDO_0012587	https://omim.org/entry/610948	predisposition
MONDO:0012584	biolink:Disease	systemic lupus erythematosus, susceptibility to, 9	Any systemic lupus erythematosus in which the cause of the disease is a mutation in the CR2 gene.	OMIM:610927	mondo.json	CR2 systemic lupus erythematosus (disease)|systemic lupus erythematosus, susceptibility to, type 9|systemic lupus erythematosus (disease) caused by mutation in CR2|SLEB9|susceptibility to systemic lupus erythematosus 9|systemic lupus erythematosus, susceptibility to, 9	http://purl.obolibrary.org/obo/MONDO_0012584	https://omim.org/entry/610927	predisposition
HP:0001760	biolink:PhenotypicFeature	Abnormal foot morphology	An abnormality of the skeleton of foot.	SNOMEDCT_US:229844004|UMLS:C0016506|MSH:D005530	mondo.json	Abnormality of the feet|Abnormality of the foot|Abnormal feet structure|Foot deformity|Foot deformities	http://purl.obolibrary.org/obo/HP_0001760		
MONDO:0012585	biolink:Disease	coronary heart disease, susceptibility to, 7	Any coronary artery disease in which the cause of the disease is a mutation in the CD36 gene.	OMIM:610938	mondo.json	coronary artery disease caused by mutation in CD36|susceptibility to coronary heart disease 7|coronary heart disease, susceptibility to, 7|CHDS7|CD36 coronary artery disease|coronary heart disease, susceptibility to, type 7	http://purl.obolibrary.org/obo/MONDO_0012585	https://omim.org/entry/610938	predisposition
MONDO:0012588	biolink:Disease	neuronal ceroid lipofuscinosis 7	Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.	DOID:0110722|GARD:0001220|MESH:C563989|Orphanet:228366|OMIM:610951	mondo.json	MFSD8 neuronal ceroid lipofuscinosis|CLN7 disease, late infantile|ceroid lipofuscinosis, neuronal, 7|CLN7 disease|CLN7|neuronal ceroid lipofuscinosis 7|neuronal ceroid lipofuscinosis caused by mutation in MFSD8|ceroid lipofuscinosis, neuronal, type 7|neuronal ceroid lipofuscinosis type 7	http://purl.obolibrary.org/obo/MONDO_0012588	DOID:0110722|http://identifiers.org/mesh/C563989|Orphanet:228366|https://omim.org/entry/610951	gard_rare|ordo_etiological_subtype
MONDO:0012589	biolink:Disease	Pitt-Hopkins syndrome	Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.	DOID:0060488|NCIT:C129872|UMLS:C1970431|ICD9:758.5|OMIM:610954|GARD:0004372|Orphanet:2896|SCTID:702344008|MESH:C537403	mondo.json	Pitt Hopkins syndrome|PTHS|Pitt-Hopkins syndrome|mental retardation, Syndromal, with intermittent hyperventilation|intellectual disability, Syndromal, with intermittent hyperventilation|encephalopathy, Severe epileptic, with autonomic dysfunction|intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea	http://purl.obolibrary.org/obo/MONDO_0012589	https://omim.org/entry/610954|NCIT:C129872|DOID:0060488|UMLS:C1970431|http://identifiers.org/snomedct/702344008|Orphanet:2896|http://identifiers.org/mesh/C537403	gard_rare|ordo_malformation_syndrome
ENVO:01001286	biolink:NamedThing	slate dust	Dust which is primarily composed of slate particles.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001286		
ENVO:01001285	biolink:NamedThing	talc dust	Dust which is primarily composed of hydrated magnesium silicate (talc) particles.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001285		
HGNC:21317	biolink:NamedThing	DYM			mondo.json		http://identifiers.org/hgnc/21317		
ENVO:01001288	biolink:NamedThing	kaolin dust	Dust which is primarily composed of kaolinite particles.		mondo.json	kaolinite dust	http://purl.obolibrary.org/obo/ENVO_01001288		
MONDO:0012582	biolink:Disease	interstitial lung disease due to ABCA3 deficiency	Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.	MESH:C567046|UMLS:C1970456|OMIM:610921|Orphanet:440402	mondo.json	SMDP3|interstitial lung disease due to ABCA3 deficiency|surfactant metabolism dysfunction, pulmonary, type 3|pulmonary alveolar proteinosis, congenital, 3|surfactant metabolism dysfunction, pulmonary, 3|interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency	http://purl.obolibrary.org/obo/MONDO_0012582	UMLS:C1970456|http://identifiers.org/mesh/C567046|https://omim.org/entry/610921|Orphanet:440402	ordo_disease
ENVO:01001282	biolink:NamedThing	silica dust	Dust which is composed primarily of slicon dioxide.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001282		
MONDO:0012583	biolink:Disease	tooth agenesis, selective, 5		OMIM:610926|UMLS:C1858210|MESH:C565757	mondo.json	he-Zhao deficiency|hypodontia/oligodontia 5|tooth agenesis, selective, 5|STHAG5	http://purl.obolibrary.org/obo/MONDO_0012583	http://identifiers.org/mesh/C565757|UMLS:C1858210|https://omim.org/entry/610926	
MONDO:0012580	biolink:Disease	hereditary pulmonary alveolar proteinosis	Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure.	Orphanet:264675|UMLS:C2931035|GARD:0004582|MESH:C535832|OMIMPS:265120|SCTID:707442002	mondo.json	congenital PAP|sufactant metabolism dysfunction, pulmonary|inborn error of pulmonary surfactant metabolism|pulmonary alveolar proteinosis, congenital|hereditary pulmonary alveolar proteinosis|congenital pulmonary alveolar proteinosis	http://purl.obolibrary.org/obo/MONDO_0012580	UMLS:C2931035|http://identifiers.org/mesh/C535832|Orphanet:264675|http://identifiers.org/snomedct/707442002|https://omim.org/phenotypicSeries/PS265120	gard_rare|ordo_disease
ENVO:01001284	biolink:NamedThing	barium dust	Dust which is primarily composed of barium particles.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001284		
MONDO:0012581	biolink:Disease	osteogenesis imperfecta type 8	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene.	MESH:C536049|OMIM:610915|DOID:0110336|GARD:0010152|Orphanet:216804|Orphanet:216812	mondo.json	OI8|OI, type 8|osteogenesis imperfecta, type 8|osteogenesis imperfecta caused by mutation in P3H1|osteogenesis imperfecta type 8|osteogenesis imperfecta type VIII|osteogenesis imperfecta, type VIII|P3H1 osteogenesis imperfecta|OI type VIII	http://purl.obolibrary.org/obo/MONDO_0012581	https://omim.org/entry/610915|http://identifiers.org/mesh/C536049|DOID:0110336	
MONDO:0024553	biolink:Disease	myopathy, lactic acidosis, and sideroblastic anemia 1	Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene.	UMLS:C1838103|OMIM:600462|DOID:0111185	mondo.json	PUS1 myopathy, lactic acidosis, and sideroblastic anemia|mitochondrial myopathy and sideroblastic anemia|myopathy, lactic acidosis, and sideroblastic anemia caused by mutation in PUS1|MLASA1|myopathy, lactic acidosis, and sideroblastic anemia 1	http://purl.obolibrary.org/obo/MONDO_0024553	DOID:0111185|UMLS:C1838103|https://omim.org/entry/600462	
MONDO:0024552	biolink:Disease	linear skin defects with multiple congenital anomalies 1	Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the HCCS gene.	OMIM:309801	mondo.json	microphthalmia, syndromic 7|Midas syndrome|linear skin defects with multiple congenital anomalies 1|microphthalmia with linear skin defects|HCCS microphthalmia with linear skin defects syndrome|LSDMCA1|microphthalmia, dermal aplasia, and sclerocornea|linear skin defects with multiple congenital anomalies 1, X-linked dominant|microphthalmia with linear skin defects syndrome caused by mutation in HCCS	http://purl.obolibrary.org/obo/MONDO_0024552	https://omim.org/entry/309801	
MONDO:0024555	biolink:Disease	megalencephalic leukoencephalopathy with subcortical cysts 1		OMIM:604004|DOID:0080316	mondo.json	megalencephalic leukoencephalopathy with subcortical cysts 1|megalencephalic leukoencephalopathy with subcortical cysts|Lvm|VL|leukoencephalopathy with swelling and cysts|Van Der Knaap disease|Vacuolating megalencephalic leukoencephalopathy with subcortical cysts|MLC1	http://purl.obolibrary.org/obo/MONDO_0024555	DOID:0080316|https://omim.org/entry/604004	
MONDO:0024554	biolink:Disease	D-2-hydroxyglutaric aciduria 1	Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene.	UMLS:C3152055|DOID:0111351|OMIM:600721	mondo.json	D2HGDH D-2-hydroxyglutaric aciduria|D-2-hydroxyglutaric aciduria 1|D-2-hydroxyglutaric aciduria|D2HGA1|D-2-hydroxyglutaric aciduria caused by mutation in D2HGDH	http://purl.obolibrary.org/obo/MONDO_0024554	DOID:0111351|https://omim.org/entry/600721|UMLS:C3152055	
MONDO:0024557	biolink:Disease	ataxia-telangiectasia-like disorder 1	Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene.	OMIM:604391|UMLS:C1858391|Orphanet:251347|NCIT:C132224	mondo.json	Atld|ataxia - telangiectasia-like disorder caused by mutation in MRE11|MRE11 ataxia-telangiectasia-like disorder|ataxia-telangiectasia-like disorder 1|ataxia-telangiectasia-like disorder caused by mutation in MRE11|MRE11 ataxia - telangiectasia-like disorder|ATLD1	http://purl.obolibrary.org/obo/MONDO_0024557	NCIT:C132224|https://omim.org/entry/604391|Orphanet:251347|UMLS:C1858391	
MONDO:0024556	biolink:Disease	epilepsy, familial focal, with variable foci 1	Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene.	NCIT:C161005|UMLS:C1858477|OMIM:604364	mondo.json	epilepsy, familial focal, with variable foci|FFEVF1|epilepsy, familial focal, with variable foci caused by mutation in DEPDC5|DEPDC5 epilepsy, familial focal, with variable foci|epilepsy, partial, with variable foci|epilepsy, familial focal, with variable foci 1	http://purl.obolibrary.org/obo/MONDO_0024556	NCIT:C161005|https://omim.org/entry/604364|UMLS:C1858477	
MONDO:0024559	biolink:Disease	aortic aneurysm, familial thoracic 1		OMIM:607086|MESH:C562834|Orphanet:229	mondo.json	aortic dissection, familial|aortic aneurysm, familial thoracic|AAT1|aneurysm, thoracic aortic|FAA1|Erdheim cystic medial necrosis of aorta|annuloaortic ectasia	http://purl.obolibrary.org/obo/MONDO_0024559	Orphanet:229|http://identifiers.org/mesh/C562834|https://omim.org/entry/607086	
MONDO:0024558	biolink:Disease	radioulnar synostosis with amegakaryocytic thrombocytopenia 1	Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene.	OMIM:605432	mondo.json	RUSAT1|radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in HOXA11|HOXA11 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome|Rusat|thrombocytopenia, congenital, with radioulnar synostosis|radioulnar synostosis with amegakaryocytic thrombocytopenia 1	http://purl.obolibrary.org/obo/MONDO_0024558	https://omim.org/entry/605432	
NCBITaxon:1129771	biolink:OrganismalEntity	Leptotrichiaceae		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1129771		
MONDO:0024551	biolink:Disease	X-linked lymphoproliferative disease due to SH2D1A deficiency	A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells.	Orphanet:538931|OMIM:308240	mondo.json	Purtilo syndrome|Xlp|immunodeficiency 5|infectious mononucleosis, Severe, susceptibility to|immunodeficiency, X-linked progressive combined variable|X-linked lymphoproliferative disease due to SH2D1A deficiency|EBV infection, Severe, susceptibility to|lymphoproliferative syndrome, X-linked, 1, X-linked recessive|Epstein-Barr Virus infection, familial fatal|Lyp|lymphoproliferative disease, X-linked|XLP1|lymphoproliferative syndrome, X-linked, 1|Duncan disease	http://purl.obolibrary.org/obo/MONDO_0024551	Orphanet:538931|https://omim.org/entry/308240	ordo_disease
MONDO:0024550	biolink:Disease	frontometaphyseal dysplasia 1	Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene.	OMIM:305620|DOID:0111786	mondo.json	FMD1|FLNA frontometaphyseal dysplasia|frontometaphyseal dysplasia caused by mutation in FLNA|frontometaphyseal dysplasia 1, X-linked recessive|Fmd|FRONTOMETAPHYSEAL dysplasia 1	http://purl.obolibrary.org/obo/MONDO_0024550	DOID:0111786|https://omim.org/entry/305620	
MONDO:0012575	biolink:Disease	branchiootorenal syndrome 2	Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene.	UMLS:C1970479|DOID:0111424|OMIM:610896	mondo.json	branchiootorenal syndrome type 2|branchio-oto-renal syndrome caused by mutation in SIX5|BOR2|branchiootorenal syndrome 2|SIX5 branchio-oto-renal syndrome	http://purl.obolibrary.org/obo/MONDO_0012575	DOID:0111424|UMLS:C1970479|https://omim.org/entry/610896	
MONDO:0012576	biolink:Disease	supranuclear palsy, progressive, 3		UMLS:C1970476|MESH:C567050|OMIM:610898	mondo.json	PSNP3|supranuclear palsy, progressive, 3	http://purl.obolibrary.org/obo/MONDO_0012576	https://omim.org/entry/610898|http://identifiers.org/mesh/C567050|UMLS:C1970476	
UBERON:0035767	biolink:AnatomicalEntity	intrapulmonary bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035767		
MONDO:0012573	biolink:Disease	vesicoureteral reflux 2	Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene.	MESH:C567053|OMIM:610878|UMLS:C1970483	mondo.json	vesicoureteral reflux type 2|vesicoureteral reflux (disease) caused by mutation in ROBO2|VUR2|vesicoureteral reflux 2|ROBO2 vesicoureteral reflux (disease)	http://purl.obolibrary.org/obo/MONDO_0012573	http://identifiers.org/mesh/C567053|UMLS:C1970483|https://omim.org/entry/610878	
MONDO:0012574	biolink:Disease	Potocki-Lupski syndrome	17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioural problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.	DECIPHER:19|GARD:0010145|Orphanet:1713|NCIT:C124846|UMLS:C2931246|SCTID:734016004|OMIM:610883|DOID:0060853	mondo.json	17p11.2 microduplication syndrome|Potocki-Lupski syndrome, Isolated cases|Potocki-Lupski syndrome (dup(17)(p11.2p11.2))|Duplication 17p11.2 syndrome|trisomy 17p11.2|17p11.2 Duplication syndrome|chromosome 17p11.2 duplication syndrome|chromosome 17P11.2 Duplication syndrome|Potocki-Lupski syndrome|PTLS	http://purl.obolibrary.org/obo/MONDO_0012574	Orphanet:1713|http://identifiers.org/snomedct/734016004|UMLS:C2931246|DOID:0060853|NCIT:C124846|https://omim.org/entry/610883	ordo_malformation_syndrome
MONDO:0012579	biolink:Disease	autoimmune pulmonary alveolar proteinosis	Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS).	SCTID:707443007|UMLS:C1970472|MESH:C567049|GARD:0007499|Orphanet:747|OMIM:610910	mondo.json	pulmonary alveolar lipoproteinosis acquired|iPAP|idiopathic pulmonary alveolar proteinosis|APAP|pulmonary alveolar proteinosis, autoimmune|pulmonary alveolar lipoproteinosis, acquired|PAP acquired|autoimmune PAP|pulmonary alveolar proteinosis autoimmune|idiopathic PAP|pulmonary alveolar proteinosis, acquired|pulmonary alveolar proteinosis acquired|acquired pulmonary alveolar proteinosis|PAP|Pap, acquired	http://purl.obolibrary.org/obo/MONDO_0012579	https://omim.org/entry/610910|Orphanet:747|http://identifiers.org/snomedct/707443007|UMLS:C1970472|http://identifiers.org/mesh/C567049	ordo_disease|gard_rare
HP:0025722	biolink:PhenotypicFeature	Cerebral infarct	A necrotic lesion in the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors.		mondo.json		http://purl.obolibrary.org/obo/HP_0025722		
MONDO:0012577	biolink:Disease	asthma-related traits, susceptibility to, 4		OMIM:610906	mondo.json	asthma-related traits, susceptibility to, 4|asthma and allergic rhinitis, susceptibility to|ASRT4|asthma-related traits, susceptibility to, type 4	http://purl.obolibrary.org/obo/MONDO_0012577	https://omim.org/entry/610906	predisposition
MONDO:0012578	biolink:Disease	autism, susceptibility to, 13		OMIM:610908	mondo.json	AUTS13|autism, susceptibility to, 13|autism susceptibility 13	http://purl.obolibrary.org/obo/MONDO_0012578	https://omim.org/entry/610908	predisposition
ENVO:01001275	biolink:NamedThing	solid layer	A layer which is primarily composed of some solid material, allowing for non-solid parts such as interstitial pockets of gas or liquid.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001275		
MONDO:0024549	biolink:Disease	microphthalmia with coloboma 1		OMIM:300345	mondo.json	microphthalmia, isolated, with coloboma 1|MCOPCB1|microphthalmia, colobomatous, isolated 1	http://purl.obolibrary.org/obo/MONDO_0024549	https://omim.org/entry/300345	
ENVO:01001276	biolink:NamedThing	water ice layer	A solid layer which is primarily composed of some water-based ice.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001276		
MONDO:0012571	biolink:Disease	primary ciliary dyskinesia 6	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the NME8 gene.	MESH:C567057|OMIM:610852|DOID:0110606|UMLS:C1970506	mondo.json	ciliary dyskinesia, primary, type 6|NME8 primary ciliary dyskinesia|primary ciliary dyskinesia caused by mutation in NME8|primary ciliary dyskinesia type 6|ciliary dyskinesia, primary, 6|CILD6	http://purl.obolibrary.org/obo/MONDO_0012571	DOID:0110606|http://identifiers.org/mesh/C567057|UMLS:C1970506|https://omim.org/entry/610852	
MONDO:0012572	biolink:Disease	Sakoda complex		OMIM:610871|UMLS:C1970485|MESH:C567055|GARD:0009695	mondo.json	Sakoda complex|Sakoda spectrum|sphenoethmoidal encephalomeningocele agenesis of the corpus callosum and cleft lip/palate|sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft Lip/palate	http://purl.obolibrary.org/obo/MONDO_0012572	UMLS:C1970485|http://identifiers.org/mesh/C567055|https://omim.org/entry/610871	gard_rare
ENVO:01001273	biolink:NamedThing	liquid layer	A layer which is primarily composed of some liquid material.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001273		
MONDO:0012570	biolink:Disease	body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.	SCTID:717941005|Orphanet:91135|OMIM:610842|MESH:C563654|UMLS:C4049241|UMLS:C1835813	mondo.json	PXE-like disorder with multiple coagulation Factor deficiency|pseudoxanthoma elasticum-like syndrome|pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency|PXE-like syndrome	http://purl.obolibrary.org/obo/MONDO_0012570	http://identifiers.org/mesh/C563654|UMLS:C4049241|UMLS:C1835813|Orphanet:91135|https://omim.org/entry/610842|http://identifiers.org/snomedct/717941005	ordo_disease
MONDO:0024542	biolink:Disease	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	Any dysequilibrium syndrome in which the cause of the disease is a mutation in the VLDLR gene.	UMLS:CN074243|OMIM:224050	mondo.json	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 1|cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1|cerebellar hypoplasia, VLDLR-associated|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1|cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1|cerebellar ataxia, congenital, and intellectual disability, autosomal recessive|VLDLR dysequilibrium syndrome|dysequilibrium syndrome|cerebellar ataxia, congenital, and mental retardation, autosomal recessive|CAMRQ1|dysequilibrium syndrome caused by mutation in VLDLR|cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 1	http://purl.obolibrary.org/obo/MONDO_0024542	https://omim.org/entry/224050|UMLS:CN074243	
MONDO:0000575	biolink:Disease	obsolete MONDO:0000575			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000575		
MONDO:0024541	biolink:Disease	trichohepatoenteric syndrome 1	Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the TTC37 gene.	DOID:0111415|OMIM:222470|UMLS:CN034858	mondo.json	TRICHOHEPATOENTERIC syndrome 1|diarrhea, fatal infantile, with trichorrhexis nodosa|diarrhea, syndromic|TTC37 tricho-hepato-enteric syndrome|The syndrome|trichohepatoenteric syndrome 1|THES1|tricho-hepato-enteric syndrome caused by mutation in TTC37	http://purl.obolibrary.org/obo/MONDO_0024541	DOID:0111415|https://omim.org/entry/222470|UMLS:CN034858	
MONDO:0000574	biolink:Disease	obsolete CD45 deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000574		
MONDO:0024544	biolink:Disease	obsolete Heimler syndrome 1		OMIM:234580|DOID:0080623	mondo.json	hearing loss, sensorineural, with enamel hypoplasia and nail defects|HMLR1|peroxisome biogenesis disorder 1C|HEIMLER syndrome 1	http://purl.obolibrary.org/obo/MONDO_0024544	DOID:0080623|https://omim.org/entry/234580	
MONDO:0000573	biolink:Disease	recombinase activating gene 2 deficiency	A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.	DOID:0060012	mondo.json	recombinase activating gene 2 deficiency	http://purl.obolibrary.org/obo/MONDO_0000573	DOID:0060012	
MONDO:0024543	biolink:Disease	brittle cornea syndrome 1	Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene.	MESH:C536192|SCTID:31798004|OMIM:229200	mondo.json	brittle cornea syndrome 1|ZNF469 brittle cornea syndrome|brittle cornea syndrome caused by mutation in ZNF469|corneal fragility, keratoglobus, blue sclerae, Joint hyperextensibility|Ehlers-Danlos syndrome, type Vib, formerly|dysgenesis Mesodermalis corneae Et sclerae|Ehlers-Danlos syndrome, type Vib|Fragilitas oculi with Joint hyperextensibility|BCS1	http://purl.obolibrary.org/obo/MONDO_0024543	http://identifiers.org/mesh/C536192|http://identifiers.org/snomedct/31798004|https://omim.org/entry/229200	
MONDO:0000572	biolink:Disease	recombinase activating gene 1 deficiency	A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.	DOID:0060011	mondo.json	recombinase activating gene 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0000572	DOID:0060011	
MONDO:0024546	biolink:Disease	hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene.	OMIM:259100|Orphanet:1525	mondo.json	HPGD primary hypertrophic osteoarthropathy|Cranioosteoarthropathy|pachydermoperiostosis, autosomal recessive|familial idiopathic osteoarthropathy of childhood|PHOAR1|Touraine-Solente-Gole syndrome|Pho, autosomal recessive|hypertrophic osteoarthropathy, primary, autosomal recessive, 1|hypertrophic osteoarthropathy, primary, autosomal recessive 1|primary hypertrophic osteoarthropathy caused by mutation in HPGD|PDP, autosomal recessive|Currarino idiopathic osteoarthropathy	http://purl.obolibrary.org/obo/MONDO_0024546	https://omim.org/entry/259100	
MONDO:0000579	biolink:Disease	obsolete coronin-1A deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000579		
MONDO:0024545	biolink:Disease	Miyoshi muscular dystrophy 1	Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene.	UMLS:C1850808|OMIM:254130|DOID:0070199|GARD:0009676	mondo.json	DYSF Miyoshi myopathy|Miyoshi myopathy caused by mutation in DYSF|muscular dystrophy, distal, late-onset, autosomal recessive|MMD1|Miyoshi myopathy|MIYOSHI muscular dystrophy 1	http://purl.obolibrary.org/obo/MONDO_0024545	https://omim.org/entry/254130|DOID:0070199	
MONDO:0000578	biolink:Disease	obsolete CD3gamma deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000578		
MONDO:0024548	biolink:Disease	peeling skin syndrome 1	Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene.	UMLS:CN202306|Orphanet:263553|UMLS:C3891449|OMIM:270300	mondo.json	generalized peeling skin syndrome type B|deciduous skin|PSS|CDSN peeling skin syndrome|inflammatory peeling skin syndrome|skin peeling, familial continuous generalized|peeling skin syndrome 1|peeling skin syndrome type B|peeling skin syndrome caused by mutation in CDSN|keratolysis exfoliativa congenita|generalized deciduous skin type B|PSS type B|PSS1	http://purl.obolibrary.org/obo/MONDO_0024548	UMLS:CN202306|https://omim.org/entry/270300|Orphanet:263553	ordo_clinical_subtype
MONDO:0000577	biolink:Disease	congenital anemia	Anemia, the cause of which is present at birth.	UMLS:C0158995|NCIT:C35228|SCTID:63565007	mondo.json	congenital anemia (disease)|congenital anemia	http://purl.obolibrary.org/obo/MONDO_0000577	NCIT:C35228|http://identifiers.org/snomedct/63565007|UMLS:C0158995	
MONDO:0024547	biolink:Disease	pancreatic agenesis 1	Any pancreatic agenesis in which the cause of the disease is a mutation in the PDX1 gene.	OMIM:260370|UMLS:C3891828	mondo.json	pancreatic agenesis caused by mutation in PDX1|Pagen|PAGEN1|pancreatic hypoplasia, congenital|pancreatic agenesis 1|PDX1 pancreatic agenesis	http://purl.obolibrary.org/obo/MONDO_0024547	https://omim.org/entry/260370|UMLS:C3891828	
HGNC:21304	biolink:NamedThing	ADPRS			mondo.json		http://identifiers.org/hgnc/21304		
MONDO:0000576	biolink:Disease	obsolete CD3delta deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000576		
MONDO:0012559	biolink:Disease	primary immunodeficiency syndrome due to p14 deficiency	Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.	UMLS:C1835829|SCTID:718717004|OMIM:610798|UMLS:C4305256|MESH:C563663|Orphanet:90023	mondo.json	immunodeficiency due to defect in MAPBP-interacting PROTEIN|immunodeficiency due to defect in Mapbp-interacting Protein|primary immunodeficiency syndrome with short stature|primary immunodeficiency syndrome due to LAMTOR2 deficiency	http://purl.obolibrary.org/obo/MONDO_0012559	UMLS:C1835829|http://identifiers.org/snomedct/718717004|UMLS:C4305256|Orphanet:90023|https://omim.org/entry/610798|http://identifiers.org/mesh/C563663	ordo_disease
MONDO:0000571	biolink:Disease	obsolete CD3zeta deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000571		
MONDO:0000570	biolink:Disease	obsolete severe combined immunodeficiency due to artemis deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000570		
NCBITaxon:2945031	biolink:OrganismalEntity	Ornithodorinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2945031		
MONDO:0024540	biolink:Disease	Jervell and Lange-Nielsen syndrome 1	Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.	UMLS:CN034131|OMIM:220400	mondo.json	prolonged QT interval in Ekg and sudden death|Jervell and Lange-Nielsen syndrome caused by mutation in KCNQ1|JLNS1|Cardioauditory syndrome of Jervell and Lange-Nielsen|Jervell and Lange-Nielsen syndrome|Surdo-Cardiac syndrome|deafness, congenital, and functional heart disease|Jervell and Lange-Nielsen syndrome 1|KCNQ1 Jervell and Lange-Nielsen syndrome	http://purl.obolibrary.org/obo/MONDO_0024540	https://omim.org/entry/220400|UMLS:CN034131	
MONDO:0012564	biolink:Disease	Polyosteolysis-hyperostosis syndrome		OMIM:610830|GARD:0010456|UMLS:C1835818|MESH:C563658	mondo.json	Polyosteolysis-hyperostosis syndrome|Polyosteolysis/hyperostosis syndrome	http://purl.obolibrary.org/obo/MONDO_0012564	https://omim.org/entry/610830|http://identifiers.org/mesh/C563658|UMLS:C1835818	gard_rare
MONDO:0012565	biolink:Disease	Fanconi anemia complementation group N	Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.	DOID:0111094|UMLS:C1835817|OMIM:610832|MESH:C563657	mondo.json	Fanconi anemia, complementation group N|Fanconi anemia complementation group N|Fanconi anemia complementation group type N|Fanconi Anemia, complementation group type N|FANCN|Fanconi anemia caused by mutation in PALB2|PALB2 Fanconi anemia	http://purl.obolibrary.org/obo/MONDO_0012565	https://omim.org/entry/610832|DOID:0111094|http://identifiers.org/mesh/C563657|UMLS:C1835817	
MONDO:0012562	biolink:Disease	holoprosencephaly 7	Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene.	MESH:C563660|OMIM:610828|DOID:0110876|UMLS:C1835820	mondo.json	PTCH1 holoprosencephaly|holoprosencephaly 7|holoprosencephaly caused by mutation in PTCH1|HPE7|holoprosencephaly type 7	http://purl.obolibrary.org/obo/MONDO_0012562	https://omim.org/entry/610828|DOID:0110876|http://identifiers.org/mesh/C563660|UMLS:C1835820	
MONDO:0012563	biolink:Disease	holoprosencephaly 9	Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene.	OMIM:610829|DOID:0110873|UMLS:C1835819	mondo.json	holoprosencephaly with microphthalmia and first branchial arch anomalies|pituitary anomalies with holoprosencephaly-like features|holoprosencephaly 9|HPE9|holoprosencephaly with microphthalmia and first branchial Arch anomalies|holoprosencephaly caused by mutation in GLI2|holoprosencephaly type 9|GLI2 holoprosencephaly	http://purl.obolibrary.org/obo/MONDO_0012563	https://omim.org/entry/610829|DOID:0110873|UMLS:C1835819	
MONDO:0012568	biolink:Disease	osteoarthritis susceptibility 4		UMLS:C1835815|OMIM:610839	mondo.json	osteoarthritis susceptibility 4|OS4|osteoarthritis, generalized, without dysplasia	http://purl.obolibrary.org/obo/MONDO_0012568	https://omim.org/entry/610839|UMLS:C1835815	
HP:0001743	biolink:PhenotypicFeature	Abnormality of the spleen	An abnormality of the spleen.	UMLS:C4025749	mondo.json	Abnormality of the spleen	http://purl.obolibrary.org/obo/HP_0001743		
MONDO:0012569	biolink:Disease	mitral valve prolapse, myxomatous 3		MESH:C563655|OMIM:610840|UMLS:C1835814	mondo.json	mitral valve prolapse 3|myxomatous mitral valve prolapse 3|MVP3|mitral valve prolapse, myxomatous 3|MMVP3	http://purl.obolibrary.org/obo/MONDO_0012569	https://omim.org/entry/610840|http://identifiers.org/mesh/C563655|UMLS:C1835814	
HP:0001744	biolink:PhenotypicFeature	Splenomegaly	Abnormal increased size of the spleen.	MSH:D013163|SNOMEDCT_US:16294009|UMLS:C0038002	mondo.json	Increased spleen size	http://purl.obolibrary.org/obo/HP_0001744		
MONDO:0012566	biolink:Disease	autism, susceptibility to, 11		OMIM:610836	mondo.json	autism susceptibility 11|autism, susceptibility to, 11|AUTS11	http://purl.obolibrary.org/obo/MONDO_0012566	https://omim.org/entry/610836	predisposition
MONDO:0012567	biolink:Disease	autism, susceptibility to, 12		OMIM:610838	mondo.json	autism susceptibility 12|autism, susceptibility to, 12|AUTS12	http://purl.obolibrary.org/obo/MONDO_0012567	https://omim.org/entry/610838	predisposition
MONDO:0024539	biolink:Disease	choroidal dystrophy, central areolar, 1	Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.	OMIM:215500	mondo.json	GUCY2D central areolar choroidal dystrophy|choroidal dystrophy, central areolar, 1|choroidal dystrophy, central areolar|CACD1|central areolar choroidal dystrophy caused by mutation in GUCY2D|choroidal sclerosis|choroidal dystrophy, central areolar 1	http://purl.obolibrary.org/obo/MONDO_0024539	https://omim.org/entry/215500	
MONDO:0024538	biolink:Disease	basal ganglia calcification, idiopathic, 1		UMLS:C1847731|OMIM:213600|NCIT:C129973|MESH:C537657|OMIM:606656|UMLS:C0393590	mondo.json	Fahr disease, familial|basal ganglia calcification, idiopathic, 3, formerly|idiopathic basal ganglia calcification 1|striopallidodentate calcinosis, bilateral|IBGC2|basal ganglia calcification, idiopathic, 3|ferrocalcinosis, cerebrovascular|basal ganglia calcification, idiopathic, type 1|striopallidodentate calcinosis, autosomal dominant, adult-onset|basal ganglia calcification, idiopathic, 2|IBGC1|Fahr disease, familial, formerly|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, idiopathic, 1	http://purl.obolibrary.org/obo/MONDO_0024538	UMLS:C0393590|UMLS:C1847731|https://omim.org/entry/213600|http://identifiers.org/mesh/C537657|NCIT:C129973	
MONDO:0000569	biolink:Disease	autoimmune disorder of endocrine system	A hypersensitivity reaction type II disease that involves the endocrine system.	SCTID:237822008|UMLS:C0342552|DOID:0060005|ICD9:279.49	mondo.json	endocrine system hypersensitivity reaction type II disease|endocrine system autoimmune disease	http://purl.obolibrary.org/obo/MONDO_0000569	UMLS:C0342552|DOID:0060005|http://identifiers.org/snomedct/237822008	
MONDO:0012560	biolink:Disease	obsolete invasive pneumococcal disease, recurrent isolated, 1		OMIM:610799	mondo.json		http://purl.obolibrary.org/obo/MONDO_0012560	https://omim.org/entry/610799	
MONDO:0012561	biolink:Disease	congenital anomalies of kidney and urinary tract 1	Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene.	MESH:C563661|OMIM:610805|DOID:0080206|UMLS:C1835826	mondo.json	renal hypodysplasia, nonsyndromic, 1|CAKUT1|congenital anomaly of kidney and urinary tract caused by mutation in DSTYK|congenital anomalies of kidney and urinary tract 1|DSTYK congenital anomaly of kidney and urinary tract	http://purl.obolibrary.org/obo/MONDO_0012561	http://identifiers.org/mesh/C563661|UMLS:C1835826|DOID:0080206|https://omim.org/entry/610805	predisposition
NCBITaxon:314294	biolink:OrganismalEntity	Cercopithecoidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_314294		
MONDO:0000586	biolink:Disease	autoimmune disorder of exocrine system	A hypersensitivity reaction type II disease that involves the exocrine system.	DOID:0060029	mondo.json	exocrine system hypersensitivity reaction type II disease|exocrine system autoimmune disease	http://purl.obolibrary.org/obo/MONDO_0000586	DOID:0060029	
MONDO:0024531	biolink:Disease	myopathy, tubular aggregate, 1	Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene.	UMLS:C4011726|OMIM:160565	mondo.json	myopathy, tubular aggregate|tubular aggregate myopathy caused by mutation in STIM1|myopathy, tubular aggregate, 1|STIM1 tubular aggregate myopathy|TAM1|tubular aggregate myopathy	http://purl.obolibrary.org/obo/MONDO_0024531	https://omim.org/entry/160565|UMLS:C4011726	
NCBITaxon:314295	biolink:OrganismalEntity	Hominoidea		GC_ID:1	mondo.json	ape|apes	http://purl.obolibrary.org/obo/NCBITaxon_314295		
MONDO:0024530	biolink:Disease	Bethlem myopathy 1		UMLS:CN029274|OMIM:158810	mondo.json	muscular dystrophy, benign congenital|myopathy, benign congenital, with contractures|Bethlem myopathy 1|BTHLM1|Bethlem myopathy	http://purl.obolibrary.org/obo/MONDO_0024530	https://omim.org/entry/158810|UMLS:CN029274	
MONDO:0000585	biolink:Disease	obsolete Good syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000585		
MONDO:0024533	biolink:Disease	pulmonary hypertension, primary, 1	Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene.	UMLS:C3203102|OMIM:178600	mondo.json	pulmonary hypertension, familial primary, 1, with or without HHT|pulmonary hypertension, primary, Fenfluramine-associated|Pph1 with Hht|pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia|primary pulmonary hypertension caused by mutation in BMPR2|PHT|pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated|pulmonary hypertension, primary, Dexfenfluramine-associated|PPH1|BMPR2 primary pulmonary hypertension|pulmonary hypertension, primary, 1|pulmonary arterial hypertension	http://purl.obolibrary.org/obo/MONDO_0024533	https://omim.org/entry/178600	
MONDO:0000584	biolink:Disease	B cell linker protein deficiency	A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation.	DOID:0060027	mondo.json	BLNK deficiency|B-cell linker protein deficiency	http://purl.obolibrary.org/obo/MONDO_0000584	DOID:0060027	
MONDO:0024532	biolink:Disease	otofaciocervical syndrome 1	Any otofaciocervical syndrome in which the cause of the disease is a mutation in the EYA1 gene.	UMLS:CN034490|OMIM:166780|UMLS:C3714941	mondo.json	EYA1 otofaciocervical syndrome|OFC|otofaciocervical syndrome 1|OFC1|otofaciocervical syndrome caused by mutation in EYA1|OTFCS|otofaciocervical syndrome	http://purl.obolibrary.org/obo/MONDO_0024532	https://omim.org/entry/166780|UMLS:C3714941|UMLS:CN034490	
MONDO:0000583	biolink:Disease	immunoglobulin beta deficiency		DOID:0060026|UMLS:C3502055|MESH:C567200	mondo.json	IgB deficiency	http://purl.obolibrary.org/obo/MONDO_0000583	DOID:0060026|http://identifiers.org/mesh/C567200|UMLS:C3502055	
MONDO:0024535	biolink:Disease	Singleton-Merten syndrome 1	Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene.	OMIM:182250|UMLS:C4225427	mondo.json	singleton-Merten dysplasia caused by mutation in IFIH1|SGMRT1|IFIH1 singleton-Merten dysplasia|singleton-Merten syndrome 1	http://purl.obolibrary.org/obo/MONDO_0024535	https://omim.org/entry/182250|UMLS:C4225427	
UBERON:0008192	biolink:AnatomicalEntity	tendon of triceps brachii			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008192		
MONDO:0024534	biolink:Disease	Dowling-Degos disease 1	Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene.	OMIM:179850|UMLS:C3714534	mondo.json	Dowling-Degos disease caused by mutation in KRT5|reticular pigment anomaly of flexures|DDD|KRT5 Dowling-Degos disease|DDD1|Dowling-Degos disease 1	http://purl.obolibrary.org/obo/MONDO_0024534	https://omim.org/entry/179850|UMLS:C3714534	
MONDO:0000589	biolink:Disease	autoimmune disorder of musculoskeletal system	A hypersensitivity reaction type II disease that involves the musculoskeletal system.	DOID:0060032	mondo.json	musculoskeletal system hypersensitivity reaction type II disease|musculoskeletal system autoimmune disease	http://purl.obolibrary.org/obo/MONDO_0000589	DOID:0060032	
UBERON:0008193	biolink:AnatomicalEntity	pneumatized bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008193		
HGNC:21316	biolink:NamedThing	ANKRD11			mondo.json		http://identifiers.org/hgnc/21316		
MONDO:0024537	biolink:Disease	Brown-Vialetto-van Laere syndrome 1	Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene.	Orphanet:572543|UMLS:CN029849|NCIT:C133724|OMIM:211530	mondo.json	BVVLS1|Brown-Vialetto-Van Laere syndrome 1|pontobulbar palsy with deafness|SLC52A3 Brown-Vialetto-van Laere syndrome|bulbar palsy, progressive, with sensorineural deafness|Riboflavin transporter deficiency 2|RTD2|Brown-Vialetto-van Laere syndrome 1|Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3|rfvt2-related riboflavin transporter deficiency	http://purl.obolibrary.org/obo/MONDO_0024537	UMLS:CN029849|NCIT:C133724|Orphanet:572543|https://omim.org/entry/211530	
MONDO:0000588	biolink:Disease	autoimmune disorder of gastrointestinal tract	A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system.	DOID:0060031	mondo.json	alimentary part of gastrointestinal system autoimmune disease|alimentary part of gastrointestinal system hypersensitivity reaction type II disease|autoimmune disease of alimentary part of gastrointestinal system	http://purl.obolibrary.org/obo/MONDO_0000588	DOID:0060031	
MONDO:0024536	biolink:Disease	glucocorticoid deficiency 1	Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene.	UMLS:C1859974|DOID:0080621|OMIM:202200	mondo.json	adrenal unresponsiveness to ACTH|glucocorticoid deficiency 1|GCCD1|familial glucocorticoid deficiency caused by mutation in MC2R|ACTH resistance|familial glucocorticoid deficiency 1|glucocorticoid deficiency, due to ACTH unresponsiveness|MC2R familial glucocorticoid deficiency	http://purl.obolibrary.org/obo/MONDO_0024536	https://omim.org/entry/202200|DOID:0080621	
MONDO:0000587	biolink:Disease	autoimmune disease of ear, nose and throat	An autoimmune form of otorhinolaryngologic disease.	DOID:0060030	mondo.json	autoimmune disease of eyes, ear, nose and throat|autoimmune otorhinolaryngologic disease	http://purl.obolibrary.org/obo/MONDO_0000587	DOID:0060030	
MONDO:0012548	biolink:Disease	Kostmann syndrome	Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.	Orphanet:99749|GARD:0000302|UMLS:CN032247|OMIM:610738	mondo.json	severe congenital neutropenia autosomal recessive 3|severe congenital neutropenia type 3|SCN3|Kostmann disease|neutropenia, severe congenital, 3, autosomal recessive|neutropenia, severe congenital 3, autosomal recessive|infantile agranulocytosis|agranulocytosis infantile|agranulocytosis, infantile	http://purl.obolibrary.org/obo/MONDO_0012548	UMLS:CN032247|Orphanet:99749|https://omim.org/entry/610738	ordo_disease
MONDO:0012549	biolink:Disease	autosomal recessive ataxia, Beauce type	A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.	UMLS:C1853116|Orphanet:88644|OMIM:610743|DOID:0111618|UMLS:C3683483|GARD:0012234	mondo.json	spinocerebellar ataxia, autosomal recessive 8|cerebellar ataxia, autosomal recessive, type 1|ataxia, recessive, of Beauce|SYNE1-related autosomal recessive cerebellar ataxia|autosomal recessive cerebellar ataxia type 1|ARCA1|SCAR8|spinocerebellar ataxia, autosomal recessive type 8|spinocerebellar ataxia autosomal recessive 8|autosomal recessive spinocerebellar ataxia 8|autosomal recessive ataxia Beauce type|recessive ataxia of Beauce	http://purl.obolibrary.org/obo/MONDO_0012549	UMLS:C3683483|Orphanet:88644|https://omim.org/entry/610743|DOID:0111618|UMLS:C1853116	ordo_disease
MONDO:0000582	biolink:Disease	obsolete immunoglobulin alpha deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000582		
MONDO:0000581	biolink:Disease	obsolete lambda 5 deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000581		
MONDO:0000580	biolink:Disease	obsolete CD40 ligand deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000580		
NCBITaxon:314293	biolink:OrganismalEntity	Simiiformes		GC_ID:1	mondo.json	Anthropoidea	http://purl.obolibrary.org/obo/NCBITaxon_314293		
MONDO:0012553	biolink:Disease	cerebrooculofacioskeletal syndrome 2	Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene.	UMLS:C1853102|MESH:C565185|OMIM:610756	mondo.json	cerebrooculofacioskeletal syndrome type 2|COFS2|ERCC2 COFS syndrome|cerebrooculofacioskeletal syndrome 2|COFS syndrome caused by mutation in ERCC2	http://purl.obolibrary.org/obo/MONDO_0012553	https://omim.org/entry/610756|http://identifiers.org/mesh/C565185|UMLS:C1853102	
MONDO:0012554	biolink:Disease	cerebrooculofacioskeletal syndrome 4	Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene.	UMLS:C1853100|NCIT:C173104|MESH:C565184|OMIM:610758	mondo.json	COFS syndrome caused by mutation in ERCC1|cerebrooculofacioskeletal syndrome type 4|COFS4|ERCC1 COFS syndrome|cerebrooculofacioskeletal syndrome 4	http://purl.obolibrary.org/obo/MONDO_0012554	https://omim.org/entry/610758|http://identifiers.org/mesh/C565184|NCIT:C173104|UMLS:C1853100	
HP:0001751	biolink:PhenotypicFeature	Vestibular dysfunction	An abnormality of the functioning of the vestibular apparatus.	UMLS:C1843865	mondo.json	Impaired vestibular function|Interictal vestibular dysfunction|Vestibular function defect	http://purl.obolibrary.org/obo/HP_0001751		
MONDO:0012551	biolink:Disease	alopecia areata 2		OMIM:610753|Orphanet:701|MESH:C565186|UMLS:C1853104	mondo.json	AA2|alopecia areata 2	http://purl.obolibrary.org/obo/MONDO_0012551	https://omim.org/entry/610753|http://identifiers.org/mesh/C565186|UMLS:C1853104	
MONDO:0012552	biolink:Disease	multiple endocrine neoplasia type 4	Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.	UMLS:C4274947|DOID:0080137|Orphanet:276152|UMLS:C1970712|MESH:C567059|SCTID:715907003|OMIM:610755|NCIT:C157449	mondo.json	MEN4|multiple endocrine neoplasia type 4|CDKN1B multiple endocrine neoplasia|multiple endocrine neoplasia caused by mutation in CDKN1B|multiple endocrine neoplasia, type 4|multiple endocrine neoplasia, type IV	http://purl.obolibrary.org/obo/MONDO_0012552	UMLS:C4274947|DOID:0080137|https://omim.org/entry/610755|http://identifiers.org/snomedct/715907003|NCIT:C157449|Orphanet:276152|http://identifiers.org/mesh/C567059|UMLS:C1970712	ordo_disease
MONDO:0036501	biolink:Disease	refractory malignant neoplasm	A malignant neoplasm that does not respond to treatment.	NCIT:C120186|UMLS:C0677936	mondo.json	refractory cancer|refractory malignant neoplasm|resistant cancer|clinical resistance	http://purl.obolibrary.org/obo/MONDO_0036501	UMLS:C0677936|NCIT:C120186	
MONDO:0012557	biolink:Disease	cardiomyopathy-hypotonia-lactic acidosis syndrome	Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.	UMLS:C4305259|SCTID:718713000|MESH:C563665|UMLS:C1835845|OMIM:610773|Orphanet:91130	mondo.json	mitochondrial phosphate carrier deficiency|hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome|Mpcd	http://purl.obolibrary.org/obo/MONDO_0012557	Orphanet:91130|UMLS:C4305259|https://omim.org/entry/610773|http://identifiers.org/snomedct/718713000|http://identifiers.org/mesh/C563665|UMLS:C1835845	ordo_disease
MONDO:0012558	biolink:Disease	epiphyseal dysplasia, Baumann type		UMLS:C1835830|OMIM:610797|MESH:C563664	mondo.json	epiphyseal dysplasia, Baumann type	http://purl.obolibrary.org/obo/MONDO_0012558	https://omim.org/entry/610797|http://identifiers.org/mesh/C563664|UMLS:C1835830	
HGNC:11998	biolink:NamedThing	TP53			mondo.json		http://identifiers.org/hgnc/11998		
MONDO:0012555	biolink:Disease	Cornelia de Lange syndrome 3	Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene.	UMLS:C1853099|DOID:0080507|OMIM:610759	mondo.json	Cornelia De Lange syndrome type 3|Cornelia de Lange syndrome caused by mutation in SMC3|Cornelia de Lange syndrome caused by mutation in Smc3|Cornelia DE Lange syndrome 3|Cornelia de Lange syndrome 3|CDLS3|SMC3 Cornelia de Lange syndrome|Smc3 Cornelia de Lange syndrome	http://purl.obolibrary.org/obo/MONDO_0012555	DOID:0080507|https://omim.org/entry/610759|UMLS:C1853099	
MONDO:0012556	biolink:Disease	DK1-congenital disorder of glycosylation	DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.	MESH:C563666|DOID:0080565|Orphanet:91131|SCTID:718712005|GARD:0012393|OMIM:610768	mondo.json	dolichol kinase deficiency|CDG syndrome type Im|hypotonia and ichthyosis due to dolichol phosphate deficiency|congenital disorder of glycosylation type Im|DOLK-CDG (CDG-Im)|DK1-CDG|Dk1 deficiency|CDG Im|DK1-congenital disorder of glycosylation|congenital disorder of glycosylation type 1m|CDG-Im|CDGIm|CDG1M|carbohydrate deficient glycoprotein syndrome type Im|congenital disorder of glycosylation, type Im	http://purl.obolibrary.org/obo/MONDO_0012556	Orphanet:91131|https://omim.org/entry/610768|DOID:0080565|http://identifiers.org/snomedct/718712005|http://identifiers.org/mesh/C563666	ordo_disease
MONDO:0024528	biolink:Disease	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.	DOID:0111521|OMIM:157640|UMLS:C1834846	mondo.json	autosomal dominant progressive external ophthalmoplegia caused by mutation in POLG|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|POLG autosomal dominant progressive external ophthalmoplegia|progressive external ophthalmoplegia, autosomal dominant 1|PEOA1	http://purl.obolibrary.org/obo/MONDO_0024528	UMLS:C1834846|DOID:0111521|https://omim.org/entry/157640	
HGNC:21307	biolink:NamedThing	DSG4			mondo.json		http://identifiers.org/hgnc/21307		
UBERON:0008196	biolink:AnatomicalEntity	muscle of pectoral girdle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008196		
MONDO:0024527	biolink:Disease	glomerulopathy with fibronectin deposits 1		OMIM:137950	mondo.json	glomerulopathy with giant fibrillar deposits|lobular glomerulopathy, familial|glomerulopathy with fibronectin deposits 1|GFND1	http://purl.obolibrary.org/obo/MONDO_0024527	https://omim.org/entry/137950	
ENVO:01001299	biolink:NamedThing	atmospheric zone	An environmental zone which is part of an atmosphere.		mondo.json	atmospheric area	http://purl.obolibrary.org/obo/ENVO_01001299		
MONDO:0024529	biolink:Disease	MVP1		OMIM:157700|GARD:0003688|UMLS:CN074267	mondo.json	prolapsed mitral valve|mitral valve prolapse, familial, X-linked|floppy mitral valve|PMV|barlow syndrome|mitral valve prolapse, myxomatous 1|mitral valve prolapse, familial|MVP1|click-murmur syndrome|mitral valve prolapse 1|myxomatous valvular disease, familial|myxomatous mitral valve prolapse 1|mitral regurgitation, familial	http://purl.obolibrary.org/obo/MONDO_0024529	UMLS:CN074267|https://omim.org/entry/157700	
HGNC:21308	biolink:NamedThing	ELOVL5			mondo.json		http://identifiers.org/hgnc/21308		
ENVO:01001293	biolink:NamedThing	bush area	A vegetated area which has not been cleared or is sparsely settled, usually scrub-covered or forested		mondo.json	the bush	http://purl.obolibrary.org/obo/ENVO_01001293		
MONDO:0012550	biolink:Disease	iris pattern		UMLS:C1853115|OMIM:610744	mondo.json	iris pattern	http://purl.obolibrary.org/obo/MONDO_0012550	https://omim.org/entry/610744|UMLS:C1853115	
HGNC:11990	biolink:NamedThing	TOP2B			mondo.json		http://identifiers.org/hgnc/11990		
GO:0051355	biolink:NamedThing	proprioception involved in equilibrioception	The series of events contributing to equilibrioception by which an organism senses the position, location, orientation, and movement of the body and its parts. Proprioception plays an important role in the ability of an organism to perceive its orientation with respect to gravity.		mondo.json	equilibrioception by proprioception|perception of orientation with respect to gravity by proprioception|proprioception during equilibrioception	http://purl.obolibrary.org/obo/GO_0051355		
GO:0051356	biolink:NamedThing	visual perception involved in equilibrioception	The series of events during equilibrioception required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual input plays an important role in the ability of an organism to perceive its orientation with respect to gravity.		mondo.json	visual perception during equilibrioception|equilibrioception by visual perception|perception of orientation with respect to gravity by visual perception	http://purl.obolibrary.org/obo/GO_0051356		
GO:1903109	biolink:NamedThing	positive regulation of mitochondrial transcription	Any process that activates or increases the frequency, rate or extent of transcription occuring in the mitochondrion.		mondo.json	upregulation of transcription from mitochondrial promoter|upregulation of mitochondrial transcription|up-regulation of transcription from mitochondrial promoter|up-regulation of mitochondrial transcription|up regulation of transcription from mitochondrial promoter|activation of transcription from mitochondrial promoter|positive regulation of transcription from mitochondrial promoter|up regulation of mitochondrial transcription|activation of mitochondrial transcription	http://purl.obolibrary.org/obo/GO_1903109		
GO:1903108	biolink:NamedThing	regulation of mitochondrial transcription	Any process that modulates the frequency, rate or extent of transcription occuring in the mitochondrion.		mondo.json	regulation of transcription from mitochondrial promoter	http://purl.obolibrary.org/obo/GO_1903108		
HGNC:11957	biolink:NamedThing	MED12			mondo.json		http://identifiers.org/hgnc/11957		
HGNC:6631	biolink:NamedThing	LMAN1			mondo.json		http://identifiers.org/hgnc/6631		
UBERON:0011745	biolink:AnatomicalEntity	pulmonary valve leaflets			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011745		
HGNC:11960	biolink:NamedThing	GIGYF2			mondo.json		http://identifiers.org/hgnc/11960		
HGNC:6636	biolink:NamedThing	LMNA			mondo.json		http://identifiers.org/hgnc/6636		
HGNC:6637	biolink:NamedThing	LMNB1			mondo.json		http://identifiers.org/hgnc/6637		
HGNC:6638	biolink:NamedThing	LMNB2			mondo.json		http://identifiers.org/hgnc/6638		
IAO:0000116	biolink:NamedThing	editor note	An administrative note intended for its editor. It may not be included in the publication version of the ontology, so it should contain nothing necessary for end users to understand the ontology.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000116		
GO:0051350	biolink:NamedThing	negative regulation of lyase activity	Any process that stops or reduces the rate of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond.		mondo.json	down-regulation of lyase activity|lyase inhibitor|downregulation of lyase activity|down regulation of lyase activity|inhibition of lyase activity	http://purl.obolibrary.org/obo/GO_0051350		
IAO:0000117	biolink:NamedThing	term editor	Name of editor entering the term in the file. The term editor is a point of contact for information regarding the term. The term editor may be, but is not always, the author of the definition, which may have been worked upon by several people		mondo.json		http://purl.obolibrary.org/obo/IAO_0000117		
IAO:0000114	biolink:NamedThing	has curation status			mondo.json		http://purl.obolibrary.org/obo/IAO_0000114		
IAO:0000115	biolink:NamedThing	definition	The official definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000115		
IAO:0000112	biolink:NamedThing	example of usage	A phrase describing how a term should be used and/or a citation to a work which uses it. May also include other kinds of examples that facilitate immediate understanding, such as widely know prototypes or instances of a class, or cases where a relation is said to hold.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000112		
GO:0051353	biolink:NamedThing	positive regulation of oxidoreductase activity	Any process that activates or increases the frequency, rate or extent of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered.		mondo.json	oxidoreductase activator|up-regulation of oxidoreductase activity|up regulation of oxidoreductase activity|activation of oxidoreductase activity|ribonucleotide reductase activating enzyme activity|stimulation of oxidoreductase activity|upregulation of oxidoreductase activity	http://purl.obolibrary.org/obo/GO_0051353		
IAO:0000113	biolink:NamedThing	in branch	An annotation property indicating which module the terms belong to. This is currently experimental and not implemented yet.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000113		
GO:0051354	biolink:NamedThing	negative regulation of oxidoreductase activity	Any process that stops or reduces the rate of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered.		mondo.json	inhibition of oxidoreductase activity|downregulation of oxidoreductase activity|down-regulation of oxidoreductase activity|oxidoreductase inhibitor|down regulation of oxidoreductase activity	http://purl.obolibrary.org/obo/GO_0051354		
GO:0051351	biolink:NamedThing	positive regulation of ligase activity	Any process that activates or increases the frequency, rate or extent of ligase activity, the catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate.		mondo.json	up-regulation of ligase activity|up regulation of ligase activity|ligase activator|activation of ligase activity|stimulation of ligase activity|upregulation of ligase activity	http://purl.obolibrary.org/obo/GO_0051351		
GO:0051352	biolink:NamedThing	negative regulation of ligase activity	Any process that stops or reduces the rate of ligase activity, the catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate.		mondo.json	down-regulation of ligase activity|down regulation of ligase activity|ligase inhibitor|inhibition of ligase activity|downregulation of ligase activity	http://purl.obolibrary.org/obo/GO_0051352		
IAO:0000111	biolink:NamedThing	editor preferred term	The concise, meaningful, and human-friendly name for a class or property preferred by the ontology developers. (US-English)		mondo.json		http://purl.obolibrary.org/obo/IAO_0000111		
NCBITaxon:1891762	biolink:OrganismalEntity	Betapolyomavirus hominis		GC_ID:1	mondo.json	Human polyomavirus BKV|Polyomavirus hominis 1|BK virus|human polyomavirus type BK BKV|BK virus BKV|BKV|polyomavirus BK|Human polyomavirus BK|Papovavirus BKV|BK polyomavirus|Human polyomavirus (type BK)|Human polyomavirus 1	http://purl.obolibrary.org/obo/NCBITaxon_1891762		
IAO:0000118	biolink:NamedThing	alternative term	An alternative name for a class or property which means the same thing as the preferred name (semantically equivalent)		mondo.json		http://purl.obolibrary.org/obo/IAO_0000118		
IAO:0000119	biolink:NamedThing	definition source	Formal citation, e.g. identifier in external database to indicate / attribute source(s) for the definition. Free text indicate / attribute source(s) for the definition. EXAMPLE: Author Name, URI, MeSH Term C04, PUBMED ID, Wiki uri on 31.01.2007		mondo.json		http://purl.obolibrary.org/obo/IAO_0000119		
UBERON:0011742	biolink:AnatomicalEntity	aortic valve leaflet			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011742		
UBERON:0011741	biolink:AnatomicalEntity	cardiac valve leaflet			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011741		
IAO:0000120	biolink:NamedThing	metadata complete	Class has all its metadata, but is either not guaranteed to be in its final location in the asserted IS_A hierarchy or refers to another class that is not complete.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000120		
HGNC:11976	biolink:NamedThing	TNXB			mondo.json		http://identifiers.org/hgnc/11976		
HGNC:6649	biolink:NamedThing	LMOD3			mondo.json		http://identifiers.org/hgnc/6649		
IAO:0000125	biolink:NamedThing	pending final vetting	All definitions, placement in the asserted IS_A hierarchy and required minimal metadata are complete. The class is awaiting a final review by someone other than the term editor.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000125		
IAO:0000123	biolink:NamedThing	metadata incomplete	Class is being worked on; however, the metadata (including definition) are not complete or sufficiently clear to the branch editors.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000123		
IAO:0000124	biolink:NamedThing	uncurated	Nothing done yet beyond assigning a unique class ID and proposing a preferred term.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000124		
IAO:0000121	biolink:NamedThing	organizational term	term created to ease viewing/sort terms for development purpose, and will not be included in a release		mondo.json		http://purl.obolibrary.org/obo/IAO_0000121		
IAO:0000122	biolink:NamedThing	ready for release	Class has undergone final review, is ready for use, and will be included in the next release. Any class lacking "ready_for_release" should be considered likely to change place in hierarchy, have its definition refined, or be obsoleted in the next release.  Those classes deemed "ready_for_release" will also derived from a chain of ancestor classes that are also "ready_for_release."		mondo.json		http://purl.obolibrary.org/obo/IAO_0000122		
HGNC:11937	biolink:NamedThing	CD70			mondo.json		http://identifiers.org/hgnc/11937		
HGNC:11936	biolink:NamedThing	FASLG			mondo.json		http://identifiers.org/hgnc/11936		
GO:2000765	biolink:NamedThing	regulation of cytoplasmic translation	Any process that modulates the frequency, rate or extent of cytoplasmic translation.		mondo.json		http://purl.obolibrary.org/obo/GO_2000765		
HGNC:11935	biolink:NamedThing	CD40LG			mondo.json		http://identifiers.org/hgnc/11935		
GO:2000766	biolink:NamedThing	negative regulation of cytoplasmic translation	Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translation.		mondo.json		http://purl.obolibrary.org/obo/GO_2000766		
HGNC:11934	biolink:NamedThing	TNFSF4			mondo.json		http://identifiers.org/hgnc/11934		
GO:2000767	biolink:NamedThing	positive regulation of cytoplasmic translation	Any process that activates or increases the frequency, rate or extent of cytoplasmic translation.		mondo.json		http://purl.obolibrary.org/obo/GO_2000767		
HGNC:6654	biolink:NamedThing	LMX1B			mondo.json		http://identifiers.org/hgnc/6654		
GO:1905787	biolink:NamedThing	regulation of detection of mechanical stimulus involved in sensory perception of touch	Any process that modulates the frequency, rate or extent of detection of mechanical stimulus involved in sensory perception of touch.		mondo.json	regulation of sensory transduction of mechanical stimulus during perception of touch|regulation of perception of touch, sensory transduction of mechanical stimulus|regulation of sensory detection of mechanical stimulus during perception of touch|regulation of perception of touch, sensory detection of mechanical stimulus|regulation of perception of touch, detection of mechanical stimulus|regulation of tactition, sensory detection of mechanical stimulus	http://purl.obolibrary.org/obo/GO_1905787		
GO:1903131	biolink:NamedThing	mononuclear cell differentiation	The process in which a relatively unspecialized cell acquires the specialized features of a mononuclear cell.		mondo.json		http://purl.obolibrary.org/obo/GO_1903131		
GO:1905788	biolink:NamedThing	negative regulation of detection of mechanical stimulus involved in sensory perception of touch	Any process that stops, prevents or reduces the frequency, rate or extent of detection of mechanical stimulus involved in sensory perception of touch.		mondo.json	down-regulation of sensory transduction of mechanical stimulus during perception of touch|negative regulation of sensory transduction of mechanical stimulus during perception of touch|downregulation of perception of touch, detection of mechanical stimulus|inhibition of tactition, sensory detection of mechanical stimulus|down regulation of detection of mechanical stimulus involved in sensory perception of touch|down-regulation of perception of touch, sensory transduction of mechanical stimulus|negative regulation of perception of touch, sensory transduction of mechanical stimulus|downregulation of tactition, sensory detection of mechanical stimulus|inhibition of detection of mechanical stimulus involved in sensory perception of touch|down-regulation of detection of mechanical stimulus involved in sensory perception of touch|negative regulation of sensory detection of mechanical stimulus during perception of touch|down-regulation of sensory detection of mechanical stimulus during perception of touch|negative regulation of perception of touch, sensory detection of mechanical stimulus|down-regulation of perception of touch, sensory detection of mechanical stimulus|down-regulation of perception of touch, detection of mechanical stimulus|negative regulation of perception of touch, detection of mechanical stimulus|downregulation of sensory transduction of mechanical stimulus during perception of touch|down-regulation of tactition, sensory detection of mechanical stimulus|down regulation of sensory detection of mechanical stimulus during perception of touch|negative regulation of tactition, sensory detection of mechanical stimulus|downregulation of perception of touch, sensory transduction of mechanical stimulus|down regulation of perception of touch, sensory detection of mechanical stimulus|down regulation of perception of touch, detection of mechanical stimulus|down regulation of tactition, sensory detection of mechanical stimulus|downregulation of detection of mechanical stimulus involved in sensory perception of touch|inhibition of sensory detection of mechanical stimulus during perception of touch|down regulation of sensory transduction of mechanical stimulus during perception of touch|inhibition of sensory transduction of mechanical stimulus during perception of touch|downregulation of sensory detection of mechanical stimulus during perception of touch|inhibition of perception of touch, sensory detection of mechanical stimulus|down regulation of perception of touch, sensory transduction of mechanical stimulus|inhibition of perception of touch, detection of mechanical stimulus|downregulation of perception of touch, sensory detection of mechanical stimulus|inhibition of perception of touch, sensory transduction of mechanical stimulus	http://purl.obolibrary.org/obo/GO_1905788		
GO:1905789	biolink:NamedThing	positive regulation of detection of mechanical stimulus involved in sensory perception of touch	Any process that activates or increases the frequency, rate or extent of detection of mechanical stimulus involved in sensory perception of touch.		mondo.json	upregulation of sensory transduction of mechanical stimulus during perception of touch|up-regulation of perception of touch, detection of mechanical stimulus|up-regulation of tactition, sensory detection of mechanical stimulus|upregulation of perception of touch, sensory transduction of mechanical stimulus|up regulation of sensory detection of mechanical stimulus during perception of touch|up regulation of perception of touch, sensory detection of mechanical stimulus|activation of sensory detection of mechanical stimulus during perception of touch|positive regulation of sensory detection of mechanical stimulus during perception of touch|up regulation of perception of touch, detection of mechanical stimulus|upregulation of detection of mechanical stimulus involved in sensory perception of touch|positive regulation of sensory transduction of mechanical stimulus during perception of touch|up regulation of tactition, sensory detection of mechanical stimulus|positive regulation of perception of touch, sensory detection of mechanical stimulus|activation of perception of touch, sensory detection of mechanical stimulus|positive regulation of perception of touch, detection of mechanical stimulus|activation of perception of touch, detection of mechanical stimulus|positive regulation of perception of touch, sensory transduction of mechanical stimulus|positive regulation of tactition, sensory detection of mechanical stimulus|up regulation of sensory transduction of mechanical stimulus during perception of touch|activation of tactition, sensory detection of mechanical stimulus|up regulation of perception of touch, sensory transduction of mechanical stimulus|upregulation of sensory detection of mechanical stimulus during perception of touch|upregulation of perception of touch, sensory detection of mechanical stimulus|upregulation of perception of touch, detection of mechanical stimulus|up-regulation of sensory transduction of mechanical stimulus during perception of touch|up-regulation of perception of touch, sensory transduction of mechanical stimulus|upregulation of tactition, sensory detection of mechanical stimulus|activation of sensory transduction of mechanical stimulus during perception of touch|up regulation of detection of mechanical stimulus involved in sensory perception of touch|activation of perception of touch, sensory transduction of mechanical stimulus|up-regulation of detection of mechanical stimulus involved in sensory perception of touch|activation of detection of mechanical stimulus involved in sensory perception of touch|up-regulation of sensory detection of mechanical stimulus during perception of touch|up-regulation of perception of touch, sensory detection of mechanical stimulus	http://purl.obolibrary.org/obo/GO_1905789		
HGNC:11943	biolink:NamedThing	TNNC1			mondo.json		http://identifiers.org/hgnc/11943		
IAO:0000136	biolink:NamedThing	is about	A (currently) primitive relation that relates an information artifact to an entity.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000136		
HGNC:11948	biolink:NamedThing	TNNT1			mondo.json		http://identifiers.org/hgnc/11948		
HGNC:11947	biolink:NamedThing	TNNI3			mondo.json		http://identifiers.org/hgnc/11947		
HGNC:11946	biolink:NamedThing	TNNI2			mondo.json		http://identifiers.org/hgnc/11946		
HGNC:11949	biolink:NamedThing	TNNT2			mondo.json		http://identifiers.org/hgnc/11949		
HGNC:6664	biolink:NamedThing	LOX			mondo.json		http://identifiers.org/hgnc/6664		
HGNC:6665	biolink:NamedThing	LOXL1			mondo.json		http://identifiers.org/hgnc/6665		
HGNC:11950	biolink:NamedThing	TNNT3			mondo.json		http://identifiers.org/hgnc/11950		
HGNC:4006	biolink:NamedThing	FUCA1			mondo.json		http://identifiers.org/hgnc/4006		
HGNC:6663	biolink:NamedThing	LORICRIN			mondo.json		http://identifiers.org/hgnc/6663		
NCBITaxon:2039	biolink:OrganismalEntity	Tropheryma whipplei		PMID:1377787|PMID:10843039|PMID:11491348|GC_ID:11|PMID:10555351|PMID:8863438	mondo.json	Whipple's disease-associated bacterium|Tropheryma whippelii|Whipple's bacillus	http://purl.obolibrary.org/obo/NCBITaxon_2039		
NCBITaxon:2038	biolink:OrganismalEntity	Tropheryma		PMID:1377787|PMID:11491348|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2038		
MONDO:0000513	biolink:Disease	bone ameloblastoma	A ameloblastoma that involves the bone tissue.	DOID:0050895	mondo.json	bone tissue ameloblastoma|ameloblastoma of bone tissue	http://purl.obolibrary.org/obo/MONDO_0000513	DOID:0050895	
MONDO:0000512	biolink:Disease	obsolete ameloblastoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000512		
NCBITaxon:2037	biolink:OrganismalEntity	Actinomycetales		PMID:19244447|PMID:28840812|GC_ID:11|PMID:10028252|PMID:16558735	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2037		
MONDO:0000511	biolink:Disease	obsolete gallbladder adenoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000511		
MONDO:0000510	biolink:Disease	synucleinopathy	A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]	DOID:0050890|MESH:D000080874|UMLS:C5191670	mondo.json	synucleinopathies|alpha synucleinopathies	http://purl.obolibrary.org/obo/MONDO_0000510	UMLS:C5191670|http://identifiers.org/mesh/D000080874|DOID:0050890	
HGNC:11919	biolink:NamedThing	CD40			mondo.json		http://identifiers.org/hgnc/11919		
HGNC:11918	biolink:NamedThing	TNFRSF4			mondo.json		http://identifiers.org/hgnc/11918		
HGNC:11916	biolink:NamedThing	TNFRSF1A			mondo.json		http://identifiers.org/hgnc/11916		
HGNC:4012	biolink:NamedThing	FUT1			mondo.json		http://identifiers.org/hgnc/4012		
OBO:HsapDv_0000140	biolink:NamedThing	46-year-old human stage	Middle aged stage that refers to an adult who is over 46 and under 47.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000140		
OBO:HsapDv_0000141	biolink:NamedThing	47-year-old human stage	Middle aged stage that refers to an adult who is over 47 and under 48.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000141		
HGNC:6677	biolink:NamedThing	LPL			mondo.json		http://identifiers.org/hgnc/6677		
HGNC:4010	biolink:NamedThing	FUS			mondo.json		http://identifiers.org/hgnc/4010		
MONDO:0012502	biolink:Disease	normophosphatemic familial tumoral calcinosis		OMIM:610455|MESH:C566473|DOID:0080170|GARD:0010878|Orphanet:306658	mondo.json	normophosphatemic familial tumoral calcinosis|calcinosis, tumoral, with Normophosphatemia|tumoral calcinosis, familial, normophosphatemic|NFTC|tumoral calcinosis, normophosphatemic, familial|familial normophosphatemic tumoral calcinosis	http://purl.obolibrary.org/obo/MONDO_0012502	Orphanet:306658|DOID:0080170|https://omim.org/entry/610455|http://identifiers.org/mesh/C566473	gard_rare|ordo_clinical_subtype
HGNC:11922	biolink:NamedThing	CD27			mondo.json		http://identifiers.org/hgnc/11922		
OBO:HsapDv_0000144	biolink:NamedThing	50-year-old human stage	Middle aged stage that refers to an adult who is over 50 and under 51.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000144		
MONDO:0012503	biolink:Disease	thiopurine S-methyltransferase deficiency	An inherited metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity.	OMIM:610460|DOID:0080172|SCTID:238012003|GARD:0005173|NCIT:C4389|Orphanet:3315|MESH:C536512	mondo.json	poor metabolism of thiopurines-1|rare inborn error of thiopurine S-methyltransferase activity|inborn error of thiopurine S-methyltransferase activity|Thiopurines, poor metabolism of|THPM1|thiopurine methyltransferase deficiency|thiopurine S methyltranferase deficiency|TPMT deficiency|inborn thiopurine S-methyltransferase activity disorder|Thiopurines, poor metabolism of, 1|6-mercaptopurine sensitivity|thiopurines, poor metabolism of, 1|thiopurine S-methyltransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0012503	http://identifiers.org/snomedct/238012003|NCIT:C4389|Orphanet:3315|DOID:0080172|https://omim.org/entry/610460|http://identifiers.org/mesh/C536512	
MONDO:0012500	biolink:Disease	chilblain lupus 1	Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene.	OMIM:610448	mondo.json	chilblain lupus 1|TREX1 chilblain lupus|chilblain lupus|chilblain lupus caused by mutation in TREX1|CHBL1|chilblain lupus type 1	http://purl.obolibrary.org/obo/MONDO_0012500	https://omim.org/entry/610448	
OBO:HsapDv_0000142	biolink:NamedThing	48-year-old human stage	Middle aged stage that refers to an adult who is over 48 and under 49.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000142		
HGNC:11920	biolink:NamedThing	FAS			mondo.json		http://identifiers.org/hgnc/11920		
MONDO:0012501	biolink:Disease	obsolete mutagen sensitivity		GARD:0008273|OMIM:610452	mondo.json	mutagen sensitivity	http://purl.obolibrary.org/obo/MONDO_0012501	https://omim.org/entry/610452	gard_rare
OBO:HsapDv_0000143	biolink:NamedThing	49-year-old human stage	Middle aged stage that refers to an adult who is over 49 and under 50.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000143		
MONDO:0000506	biolink:Disease	obsolete Caroli disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000506		
MONDO:0000505	biolink:Disease	obsolete small cell neuroendocrine carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000505		
MONDO:0000504	biolink:Disease	obsolete follicular lymphoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000504		
MONDO:0000503	biolink:Disease	lung adenocarcinoma in situ	A localized non-invasive adenocarcinoma of the lung measuring 3 cm or less. It is characterized by a pure lepidic growth pattern and the lack of stromal, vascular, or pleural invasion.	DOID:0050870|NCIT:C8748|ONCOTREE:LAIS|NCIT:C136486|UMLS:C0854971	mondo.json	stage 0 adenosquamous lung cancer|bronchioalveolar carcinoma|lung adenosquamous cell carcinoma in situ|stage 0 adenosquamous cell carcinoma of lung|lung adenocarcinoma In situ|adenosquamous cell carcinoma in situ of lung|stage 0 adenosquamous cell carcinoma of the lung|adenosquamous cell carcinoma in situ of the lung|bronchioloalveolar carcinoma|stage 0 adenosquamous lung carcinoma aJCC v7|stage 0 adenosquamous lung carcinoma aJCC v6 and v7|stage 0 adenosquamous lung carcinoma aJCC v6|in situ pulmonary adenocarcinoma|stage 0 adenosquamous cell lung carcinoma	http://purl.obolibrary.org/obo/MONDO_0000503	DOID:0050870|UMLS:C0854971|NCIT:C136486	
HGNC:4017	biolink:NamedThing	FUT6			mondo.json		http://identifiers.org/hgnc/4017		
MONDO:0000509	biolink:Disease	non-syndromic intellectual disability	An intellectual disability that is not part of a larger syndrome.	DOID:0050889|OMIM:613192	mondo.json	nonsyndromic intellectual disability|isolated intellectual disability	http://purl.obolibrary.org/obo/MONDO_0000509	DOID:0050889	
MONDO:0000508	biolink:Disease	syndromic intellectual disability	A intellectual disability that is part of a larger syndrome.	DOID:0050888|UMLS:CN225415	mondo.json	syndrome associated with intellectual disability|syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0000508	UMLS:CN225415|DOID:0050888	
MONDO:0000507	biolink:Disease	inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.	OMIMPS:167320|UMLS:C1833662|DOID:0050881|Orphanet:52430|SCTID:703544004|GARD:0010899	mondo.json	IBMPFD|limb-girdle muscular dystrophy with Paget disease of bone|inclusion body myopathy with early-onset Paget disease and frontotemporal dementia|inclusion body myopathy/Paget disease/frontotemporal dementia|inclusion body myopathy with Paget's disease of bone and frontotemporal dementia|pagetoid neuroskeletal syndrome|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia|pagetoid amyotrophic lateral sclerosis	http://purl.obolibrary.org/obo/MONDO_0000507	DOID:0050881|Orphanet:52430|https://omim.org/phenotypicSeries/PS167320|http://identifiers.org/snomedct/703544004|UMLS:C1833662	ordo_disease
MONDO:0000520	biolink:Disease	parietal lobe ependymal tumor	An ependymal tumor affecting the parietal lobe of the brain.	NCIT:C131575|DOID:0050903|UMLS:C4330935	mondo.json	parietal lobe ependymal tumor|ependymal tumor of parietal lobe|parietal lobe ependymoma	http://purl.obolibrary.org/obo/MONDO_0000520	UMLS:C4330935|NCIT:C131575|DOID:0050903	
NCBITaxon:2049	biolink:OrganismalEntity	Actinomycetaceae		PMID:19244447|GC_ID:11|PMID:30186281|PMID:16558803	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2049		
MONDO:0000524	biolink:Disease	mixed extragonadal germ cell cancer	A mixed germ cell cancer that is located in areas of the body other than the ovary or testicle.	DOID:0050907	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000524	DOID:0050907	
MONDO:0000523	biolink:Disease	obsolete conjunctival nevus			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000523		
MONDO:0000522	biolink:Disease	obsolete inflammatory myofibroblastic tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000522		
MONDO:0000521	biolink:Disease	salivary gland carcinoma	A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma.	UMLS:C0948750|DOID:0050904|ONCOTREE:SACA|NCIT:C9272	mondo.json	salivary gland cancer|carcinoma of the salivary gland|salivary gland carcinoma|carcinoma of saliva-secreting gland|saliva-secreting gland carcinoma|salivary carcinoma|carcinoma of salivary gland	http://purl.obolibrary.org/obo/MONDO_0000521	UMLS:C0948750|NCIT:C9272|DOID:0050904	
OBI:0000112	biolink:NamedThing	specimen role	a role borne by a material entity that is gained during a specimen collection process and that can be realized by use of the specimen in an investigation		mondo.json		http://purl.obolibrary.org/obo/OBI_0000112		
OBO:HsapDv_0000137	biolink:NamedThing	43-year-old human stage	Adult stage that refers to an adult who is over 43 and under 44.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000137		
HGNC:11926	biolink:NamedThing	TNFSF11			mondo.json		http://identifiers.org/hgnc/11926		
OBO:HsapDv_0000138	biolink:NamedThing	44-year-old human stage	Adult stage that refers to an adult who is over 44 and under 45.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000138		
OBO:HsapDv_0000135	biolink:NamedThing	41-year-old human stage	Adult stage that refers to an adult who is over 41 and under 42.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000135		
OBO:HsapDv_0000136	biolink:NamedThing	42-year-old human stage	Adult stage that refers to an adult who is over 42 and under 43.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000136		
OBO:HsapDv_0000139	biolink:NamedThing	45-year-old human stage	Middle aged stage that refers to an adult who is over 45 and under 46.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000139		
UBERON:0011779	biolink:AnatomicalEntity	nerve of head region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011779		
OBO:HsapDv_0000130	biolink:NamedThing	36-year-old human stage	Adult stage that refers to an adult who is over 36 and under 37.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000130		
CHEBI:16526	biolink:ChemicalSubstance	carbon dioxide	A one-carbon compound with formula CO2 in which the carbon is attached to each oxygen atom by a double bond. A colourless, odourless gas under normal conditions, it is produced during respiration by all animals, fungi and microorganisms that depend directly or indirectly on living or decaying plants for food.		mondo.json	methanedione|dioxidocarbon|CO2|carbonic anhydride|E290|[CO2]|E-290|carbon dioxide|E 290|Carbon dioxide|CARBON DIOXIDE|R-744	http://purl.obolibrary.org/obo/CHEBI_16526		
UBERON:0011777	biolink:AnatomicalEntity	nucleus of spinal cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011777		
OBO:HsapDv_0000133	biolink:NamedThing	39-year-old human stage	Adult stage that refers to an adult who is over 39 and under 40.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000133		
OBO:HsapDv_0000134	biolink:NamedThing	40-year-old human stage	Adult stage that refers to an adult who is over 40 and under 41.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000134		
OBO:HsapDv_0000131	biolink:NamedThing	37-year-old human stage	Adult stage that refers to an adult who is over 37 and under 38.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000131		
OBO:HsapDv_0000132	biolink:NamedThing	38-year-old human stage	Adult stage that refers to an adult who is over 38 and under 39.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000132		
MONDO:0000517	biolink:Disease	brain stem medulloblastoma	A medulloblastoma that involves the brainstem.	DOID:0050899	mondo.json	medulloblastoma of brainstem|brainstem medulloblastoma	http://purl.obolibrary.org/obo/MONDO_0000517	DOID:0050899	
MONDO:0000516	biolink:Disease	phalanx chondroma	A chondroma that involves the phalanx.	DOID:0050898	mondo.json	phalanx chondroma	http://purl.obolibrary.org/obo/MONDO_0000516	DOID:0050898	
MONDO:0000515	biolink:Disease	bone chondrosarcoma	A chondrosarcoma (disease) that involves the bone tissue.	DOID:0050897	mondo.json	chondrosarcoma (disease) of bone tissue|bone tissue chondrosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0000515	DOID:0050897	
MONDO:0000514	biolink:Disease	bone squamous cell carcinoma	A squamous cell carcinoma that involves the bone tissue.	DOID:0050896	mondo.json	bone tissue squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0000514	DOID:0050896	
HGNC:4026	biolink:NamedThing	FXYD2			mondo.json		http://identifiers.org/hgnc/4026		
MONDO:0000519	biolink:Disease	corpus callosum oligodendroglioma	A oligodendroglioma that involves the corpus callosum.	DOID:0050901	mondo.json	corpus callosum oligodendroglioma|oligodendroglioma of corpus callosum	http://purl.obolibrary.org/obo/MONDO_0000519	DOID:0050901	
MONDO:0000518	biolink:Disease	sacrum chordoma	A chordoma (disease) that involves the fused sacrum.	UMLS:C3164279|SCTID:447730004|DOID:0050900	mondo.json	fused sacrum chordoma (disease)|chordoma (disease) of fused sacrum	http://purl.obolibrary.org/obo/MONDO_0000518	DOID:0050900|http://identifiers.org/snomedct/447730004|UMLS:C3164279	
HGNC:6685	biolink:NamedThing	LRAT			mondo.json		http://identifiers.org/hgnc/6685		
OBO:HsapDv_0000126	biolink:NamedThing	32-year-old human stage	Adult stage that refers to an adult who is over 32 and under 33.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000126		
OBO:HsapDv_0000127	biolink:NamedThing	33-year-old human stage	Adult stage that refers to an adult who is over 33 and under 34.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000127		
OBO:HsapDv_0000124	biolink:NamedThing	30-year-old human stage	Adult stage that refers to an adult who is over 30 and under 31.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000124		
OBO:HsapDv_0000125	biolink:NamedThing	31-year-old human stage	Adult stage that refers to an adult who is over 31 and under 32.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000125		
UBERON:0011775	biolink:AnatomicalEntity	vagus nerve nucleus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011775		
GO:1903169	biolink:NamedThing	regulation of calcium ion transmembrane transport	Any process that modulates the frequency, rate or extent of calcium ion transmembrane transport.		mondo.json	regulation of transmembrane calcium transport|regulation of calcium ion membrane transport	http://purl.obolibrary.org/obo/GO_1903169		
GO:2000725	biolink:NamedThing	regulation of cardiac muscle cell differentiation	Any process that modulates the frequency, rate or extent of cardiac muscle cell differentiation.		mondo.json	regulation of cardiomyocyte differentiation|regulation of heart muscle cell differentiation	http://purl.obolibrary.org/obo/GO_2000725		
GO:2000726	biolink:NamedThing	negative regulation of cardiac muscle cell differentiation	Any process that stops, prevents or reduces the frequency, rate or extent of cardiac muscle cell differentiation.		mondo.json	negative regulation of heart muscle cell differentiation|negative regulation of cardiomyocyte differentiation	http://purl.obolibrary.org/obo/GO_2000726		
UBERON:0011773	biolink:AnatomicalEntity	upper jaw opening			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011773		
OBO:HsapDv_0000128	biolink:NamedThing	34-year-old human stage	Adult stage that refers to an adult who is over 34 and under 35.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000128		
OBO:HsapDv_0000129	biolink:NamedThing	35-year-old human stage	Adult stage that refers to an adult who is over 35 and under 36.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000129		
UBERON:0011772	biolink:AnatomicalEntity	lower jaw opening			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011772		
GO:2000727	biolink:NamedThing	positive regulation of cardiac muscle cell differentiation	Any process that activates or increases the frequency, rate or extent of cardiac muscle cell differentiation.		mondo.json	positive regulation of cardiomyocyte differentiation|positive regulation of heart muscle cell differentiation	http://purl.obolibrary.org/obo/GO_2000727		
HGNC:6697	biolink:NamedThing	LRP5			mondo.json		http://identifiers.org/hgnc/6697		
UBERON:0011767	biolink:AnatomicalEntity	right recurrent laryngeal nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011767		
HGNC:6698	biolink:NamedThing	LRP6			mondo.json		http://identifiers.org/hgnc/6698		
UBERON:0011766	biolink:AnatomicalEntity	left recurrent laryngeal nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011766		
OBO:HsapDv_0000122	biolink:NamedThing	28-year-old human stage	Adult stage that refers to an adult who is over 28 and under 29.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000122		
OBO:HsapDv_0000123	biolink:NamedThing	29-year-old human stage	Adult stage that refers to an adult who is over 29 and under 30.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000123		
OBO:HsapDv_0000120	biolink:NamedThing	26-year-old human stage	Adult stage that refers to an adultwho is over 26 and under 27.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000120		
UBERON:0011769	biolink:AnatomicalEntity	cartilaginous projection			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011769		
GO:1903170	biolink:NamedThing	negative regulation of calcium ion transmembrane transport	Any process that stops, prevents or reduces the frequency, rate or extent of calcium ion transmembrane transport.		mondo.json	down regulation of transmembrane calcium transport|downregulation of calcium ion membrane transport|downregulation of transmembrane calcium transport|inhibition of transmembrane calcium transport|down-regulation of calcium ion transmembrane transport|down regulation of calcium ion membrane transport|down regulation of calcium ion transmembrane transport|inhibition of calcium ion membrane transport|negative regulation of calcium ion membrane transport|down-regulation of calcium ion membrane transport|inhibition of calcium ion transmembrane transport|downregulation of calcium ion transmembrane transport|down-regulation of transmembrane calcium transport|negative regulation of transmembrane calcium transport	http://purl.obolibrary.org/obo/GO_1903170		
OBO:HsapDv_0000121	biolink:NamedThing	27-year-old human stage	Adult stage that refers to an adult who is over 27 and under 28.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000121		
HGNC:6692	biolink:NamedThing	LRP1			mondo.json		http://identifiers.org/hgnc/6692		
HGNC:6694	biolink:NamedThing	LRP2			mondo.json		http://identifiers.org/hgnc/6694		
HGNC:4036	biolink:NamedThing	FYB1			mondo.json		http://identifiers.org/hgnc/4036		
HGNC:6696	biolink:NamedThing	LRP4			mondo.json		http://identifiers.org/hgnc/6696		
HGNC:4035	biolink:NamedThing	ACKR1			mondo.json		http://identifiers.org/hgnc/4035		
HGNC:11909	biolink:NamedThing	TNFRSF11B			mondo.json		http://identifiers.org/hgnc/11909		
MONDO:0000502	biolink:Disease	villous adenoma	An epithelial neoplasm morphologically characterized by the presence of a villous architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. It may also arise in the urinary bladder, urethra, and vagina.	MESH:D018253|UMLS:C0206674|ICDO:8261/0|DOID:0050869|NCIT:C7399	mondo.json	villous adenoma	http://purl.obolibrary.org/obo/MONDO_0000502	NCIT:C7399|DOID:0050869|UMLS:C0206674|http://identifiers.org/mesh/D018253	
MONDO:0000501	biolink:Disease	obsolete Jensen syndrome		GARD:0003046|UMLS:C1839564|OMIM:304700|DOID:0050867|MESH:C537568	mondo.json	nerve deafness optic nerve atrophy, and dementia|syndrome of opticoacoustic nerve atrophy with dementia|deafness-opticoacoustic nerve atrophy-dementia syndrome|Opticoacustic nerve atrophy with dementia|Jensen syndrome|opticoacoustic nerve atrophy with dementia	http://purl.obolibrary.org/obo/MONDO_0000501	DOID:0050867|http://identifiers.org/mesh/C537568|UMLS:C1839564	gard_rare
MONDO:0000500	biolink:Disease	tongue squamous cell carcinoma	A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis.	NCIT:C4648|SCTID:276952000|DOID:0050865|UMLS:C0349566|EFO:1000055	mondo.json	tongue scc|squamous cell carcinoma of tongue|squamous cell carcinoma of the tongue|scc of tongue|scc of the tongue|tongue squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0000500	DOID:0050865|UMLS:C0349566|NCIT:C4648|http://identifiers.org/snomedct/276952000	
OBO:HsapDv_0000115	biolink:NamedThing	21-year-old human stage	Young adult stage that refers to an adult who is over 21 and under 22.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000115		
OBO:HsapDv_0000116	biolink:NamedThing	22-year-old human stage	Young adult stage that refers to an adult who is over 22 and under 23.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000116		
OBO:HsapDv_0000113	biolink:NamedThing	19-year-old human stage	Young adult stage that refers to an adult who is under 20.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000113		
OBO:HsapDv_0000114	biolink:NamedThing	20-year-old human stage	Young adult stage that refers to an adult who is over 20 and under 21.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000114		
OBO:HsapDv_0000119	biolink:NamedThing	25-year-old human stage	Adult stage that refers to an adult who is over 25 and under 26.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000119		
HGNC:11908	biolink:NamedThing	TNFRSF11A			mondo.json		http://identifiers.org/hgnc/11908		
GO:2000736	biolink:NamedThing	regulation of stem cell differentiation	Any process that modulates the frequency, rate or extent of stem cell differentiation.		mondo.json		http://purl.obolibrary.org/obo/GO_2000736		
OBO:HsapDv_0000117	biolink:NamedThing	23-year-old human stage	Young adult stage that refers to an adult who is over 23 and under 24.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000117		
GO:2000737	biolink:NamedThing	negative regulation of stem cell differentiation	Any process that stops, prevents or reduces the frequency, rate or extent of stem cell differentiation.		mondo.json		http://purl.obolibrary.org/obo/GO_2000737		
OBO:HsapDv_0000118	biolink:NamedThing	24-year-old human stage	Young adult stage that refers to an adult who is over 24 and under 25.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000118		
HGNC:11905	biolink:NamedThing	TNFRSF10B			mondo.json		http://identifiers.org/hgnc/11905		
GO:2000738	biolink:NamedThing	positive regulation of stem cell differentiation	Any process that activates or increases the frequency, rate or extent of stem cell differentiation.		mondo.json		http://purl.obolibrary.org/obo/GO_2000738		
UBERON:0011757	biolink:AnatomicalEntity	differentiated genital tubercle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011757		
HGNC:4044	biolink:NamedThing	FZD6			mondo.json		http://identifiers.org/hgnc/4044		
UBERON:0011756	biolink:AnatomicalEntity	male genital swelling			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011756		
UBERON:0011755	biolink:AnatomicalEntity	female labial swelling			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011755		
HGNC:4042	biolink:NamedThing	FZD4			mondo.json		http://identifiers.org/hgnc/4042		
UBERON:0011754	biolink:AnatomicalEntity	genital swelling			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011754		
OBO:HsapDv_0000111	biolink:NamedThing	17-year-old human stage	Adolescent stage that refers to an adolescent who is over 17 and under 18 years old.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000111		
OBO:HsapDv_0000112	biolink:NamedThing	18-year-old human stage	Adolescent stage that refers to an adolescent who is over 18 and under 19 years old.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000112		
OBO:HsapDv_0000110	biolink:NamedThing	16-year-old human stage	Adolescent stage that refers to an adolescent who is over 16 and under 17 years old.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000110		
IAO:0000103	biolink:NamedThing	failed exploratory term	The term was used in an attempt to structure part of the ontology but in retrospect failed to do a good job		mondo.json		http://purl.obolibrary.org/obo/IAO_0000103		
CHEBI:16541	biolink:ChemicalSubstance	protein polypeptide chain	A naturally occurring polypeptide synthesized at the ribosome.		mondo.json	a protein|Protein|protein polypeptide chains|polypeptide chain	http://purl.obolibrary.org/obo/CHEBI_16541		
IAO:0000104	biolink:NamedThing	plan specification	A directive information entity with action specifications and objective specifications as parts that, when concretized, is realized in a process in which the bearer tries to achieve the objectives by taking the actions specified.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000104		
IAO:0000102	biolink:NamedThing	data about an ontology part	data about an ontology part is a data item about a part of an ontology, for example a term		mondo.json		http://purl.obolibrary.org/obo/IAO_0000102		
UBERON:0008114	biolink:AnatomicalEntity	joint of girdle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008114		
UBERON:0008115	biolink:AnatomicalEntity	surface of cartilage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008115		
GO:0002349	biolink:NamedThing	histamine production involved in inflammatory response	The synthesis or release of histamine following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels.		mondo.json	histamine production involved in acute inflammatory response	http://purl.obolibrary.org/obo/GO_0002349		
GO:0002343	biolink:NamedThing	peripheral B cell selection	Any B cell selection process that occurs in the periphery.		mondo.json	peripheral B-lymphocyte selection|peripheral B-cell selection|peripheral B lymphocyte selection	http://purl.obolibrary.org/obo/GO_0002343		
GO:0002344	biolink:NamedThing	B cell affinity maturation	The process in which B cells produce antibodies with increased antigen affinity. This is accomplished by somatic hypermutation and selection for B cells which produce higher affinity antibodies to antigen.		mondo.json	B-lymphocyte affinity maturation|B-cell affinity maturation|B lymphocyte affinity maturation	http://purl.obolibrary.org/obo/GO_0002344		
NCBITaxon:2085	biolink:OrganismalEntity	Mycoplasmatales		PMID:16350067|GC_ID:4	mondo.json	Borrelomycetales|Mollicutales|Paramycetales|Pleuropneumoniales|The Mycoplasmas|Mycoplasmas	http://purl.obolibrary.org/obo/NCBITaxon_2085		
IAO:0000078	biolink:NamedThing	curation status specification	The curation status of the term. The allowed values come from an enumerated list of predefined terms. See the specification of these instances for more detailed definitions of each enumerated value.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000078		
GO:0002351	biolink:NamedThing	serotonin production involved in inflammatory response	The synthesis or release of serotonin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels.		mondo.json	serotonin production involved in acute inflammatory response	http://purl.obolibrary.org/obo/GO_0002351		
GO:0016999	biolink:NamedThing	antibiotic metabolic process	The chemical reactions and pathways involving an antibiotic, a substance produced by or derived from certain fungi, bacteria, and other organisms, that can destroy or inhibit the growth of other microorganisms.		mondo.json	antibiotic metabolism	http://purl.obolibrary.org/obo/GO_0016999		
NCBITaxon:2093	biolink:OrganismalEntity	Mycoplasma		PMID:11411711|PMID:25288662|PMID:8863441|PMID:10826816|PMID:15176735|PMID:13403276|PMID:16403858|PMID:16350067|PMID:11321109|PMID:11931184|PMID:8995799|GC_ID:4	mondo.json	Pleuropneumonia|Borrelomyces|Haemobartonella|Asterococcus|Eperythrozoon|Bovimyces|Asteromyces	http://purl.obolibrary.org/obo/NCBITaxon_2093		
NCBITaxon:2092	biolink:OrganismalEntity	Mycoplasmataceae		PMID:13403276|PMID:16350067|GC_ID:4	mondo.json	Pleuropneumoniaceae|Borrelomycetaceae|Parasitaceae	http://purl.obolibrary.org/obo/NCBITaxon_2092		
OBO:HsapDv_0000204	biolink:NamedThing	mature stage	Human developmental stage that refers to a sexually mature human.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000204		
GO:1905706	biolink:NamedThing	regulation of mitochondrial ATP synthesis coupled proton transport	Any process that modulates the frequency, rate or extent of mitochondrial ATP synthesis coupled proton transport.		mondo.json		http://purl.obolibrary.org/obo/GO_1905706		
GO:1905707	biolink:NamedThing	negative regulation of mitochondrial ATP synthesis coupled proton transport	Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial ATP synthesis coupled proton transport.		mondo.json		http://purl.obolibrary.org/obo/GO_1905707		
GO:0002335	biolink:NamedThing	mature B cell differentiation	The process in which transitional stage B cells acquire the specialized features of mature B cells in the spleen.		mondo.json	mature B-cell differentiation|mature B lymphocyte differentiation|mature B-lymphocyte differentiation|mature cell development	http://purl.obolibrary.org/obo/GO_0002335		
GO:0051302	biolink:NamedThing	regulation of cell division	Any process that modulates the frequency, rate or extent of the physical partitioning and separation of a cell into daughter cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0051302		
GO:0051301	biolink:NamedThing	cell division	The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0051301		
GO:0002339	biolink:NamedThing	B cell selection	The process dependent upon B cell antigen receptor signaling in response to self or foreign antigen through which B cells are selected for survival.		mondo.json	B-cell selection|B lymphocyte selection|B-lymphocyte selection	http://purl.obolibrary.org/obo/GO_0002339		
UBERON:0011830	biolink:AnatomicalEntity	duct of lesser vestibular gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011830		
UBERON:0011823	biolink:AnatomicalEntity	dense connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011823		
UBERON:0011822	biolink:AnatomicalEntity	dense irregular connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011822		
UBERON:0011821	biolink:AnatomicalEntity	irregular connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011821		
IAO:0000030	biolink:NamedThing	information content entity	A generically dependent continuant that is about some thing.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000030		
UBERON:0011820	biolink:AnatomicalEntity	atrioventricular region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011820		
UBERON:0011826	biolink:AnatomicalEntity	vestibular gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011826		
UBERON:0011825	biolink:AnatomicalEntity	loose connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011825		
UBERON:0011824	biolink:AnatomicalEntity	fibrous connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011824		
IAO:0000033	biolink:NamedThing	directive information entity	An information content entity whose concretizations indicate to their bearer how to realize them in a process.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000033		
GO:0002313	biolink:NamedThing	mature B cell differentiation involved in immune response	The process in which a naive B cell acquires the specialized features of a mature or memory B cell during an immune response.		mondo.json	mature B-cell differentiation during immune response|mature B cell differentiation during immune response|mature B cell development involved in immune response|mature B-lymphocyte differentiation during immune response|mature B lymphocyte differentiation during immune response	http://purl.obolibrary.org/obo/GO_0002313		
GO:0004972	biolink:NamedThing	NMDA glutamate receptor activity	An cation channel that opens in response to binding by extracellular glutmate, but only if glycine is also bound and the membrane is depolarized.  Voltage gating is indirect, due to ejection of bound magnesium from the pore at permissive voltages.		mondo.json	N-methyl-D-aspartate selective glutamate receptor activity|NMDA receptor	http://purl.obolibrary.org/obo/GO_0004972		
GO:0002312	biolink:NamedThing	B cell activation involved in immune response	The change in morphology and behavior of a mature or immature B cell during an immune response, resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.		mondo.json	B lymphocyte activation during immune response|B-lymphocyte activation during immune response|B cell activation during immune response|B-cell activation during immune response	http://purl.obolibrary.org/obo/GO_0002312		
GO:0004970	biolink:NamedThing	ionotropic glutamate receptor activity	Catalysis of the transmembrane transfer of an ion by a channel that opens when glutamate has been bound by the channel complex or one of its constituent parts.		mondo.json		http://purl.obolibrary.org/obo/GO_0004970		
HGNC:6601	biolink:NamedThing	LIG4			mondo.json		http://identifiers.org/hgnc/6601		
UBERON:0011814	biolink:AnatomicalEntity	non-neurogenic ectodermal placode			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011814		
OBO:mondo#AMBIGUOUS	biolink:NamedThing	ambiguous			mondo.json		http://purl.obolibrary.org/obo/mondo#AMBIGUOUS		
UBERON:0011818	biolink:AnatomicalEntity	superficial fascia			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011818		
UBERON:0011817	biolink:AnatomicalEntity	skin appendage placode			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011817		
GO:0051321	biolink:NamedThing	meiotic cell cycle	Progression through the phases of the meiotic cell cycle, in which canonically a cell replicates to produce four offspring with half the chromosomal content of the progenitor cell via two nuclear divisions.		mondo.json	meiosis	http://purl.obolibrary.org/obo/GO_0051321		
GO:0051336	biolink:NamedThing	regulation of hydrolase activity	Any process that modulates the frequency, rate or extent of hydrolase activity, the catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3.		mondo.json	hydrolase regulator	http://purl.obolibrary.org/obo/GO_0051336		
GO:0051339	biolink:NamedThing	regulation of lyase activity	Any process that modulates the frequency, rate or extent of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring.		mondo.json	lyase regulator	http://purl.obolibrary.org/obo/GO_0051339		
GO:0051338	biolink:NamedThing	regulation of transferase activity	Any process that modulates the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2.		mondo.json	transferase regulator	http://purl.obolibrary.org/obo/GO_0051338		
HGNC:6610	biolink:NamedThing	LIM2			mondo.json		http://identifiers.org/hgnc/6610		
GO:1905747	biolink:NamedThing	negative regulation of saliva secretion	Any process that stops, prevents or reduces the frequency, rate or extent of saliva secretion.		mondo.json	downregulation of saliva secretion|downregulation of salivation|down regulation of saliva secretion|inhibition of saliva secretion|down-regulation of saliva secretion|down regulation of salivation|inhibition of salivation|negative regulation of salivation|down-regulation of salivation	http://purl.obolibrary.org/obo/GO_1905747		
GO:0051346	biolink:NamedThing	negative regulation of hydrolase activity	Any process that stops or reduces the rate of hydrolase activity, the catalysis of the hydrolysis of various bonds.		mondo.json	down regulation of hydrolase activity|inhibition of hydrolase activity|down-regulation of hydrolase activity|hydrolase inhibitor|downregulation of hydrolase activity	http://purl.obolibrary.org/obo/GO_0051346		
GO:0051347	biolink:NamedThing	positive regulation of transferase activity	Any process that activates or increases the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from a donor compound to an acceptor.		mondo.json	up-regulation of transferase activity|activation of transferase activity|upregulation of transferase activity|up regulation of transferase activity|stimulation of transferase activity|transferase activator	http://purl.obolibrary.org/obo/GO_0051347		
GO:0051345	biolink:NamedThing	positive regulation of hydrolase activity	Any process that activates or increases the frequency, rate or extent of hydrolase activity, the catalysis of the hydrolysis of various bonds.		mondo.json	upregulation of hydrolase activity|up regulation of hydrolase activity|stimulation of hydrolase activity|up-regulation of hydrolase activity|activation of hydrolase activity|hydrolase activator	http://purl.obolibrary.org/obo/GO_0051345		
CHEBI:28479	biolink:ChemicalSubstance	D-tyrosine	An optically active form of tyrosine having D-configuration.		mondo.json	(2R)-2-amino-3-(4-hydroxyphenyl)propanoic acid|DTY|(R)-3-(p-Hydroxyphenyl)alanine|(R)-2-Amino-3-(p-hydroxyphenyl)propionic acid|D-Tyr|D-Tyrosin|D-tyrosine|D-TYROSINE|D-Tyrosine	http://purl.obolibrary.org/obo/CHEBI_28479		
GO:0051348	biolink:NamedThing	negative regulation of transferase activity	Any process that stops or reduces the rate of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from a donor compound to an acceptor.		mondo.json	downregulation of transferase activity|down regulation of transferase activity|inhibition of transferase activity|down-regulation of transferase activity|transferase inhibitor	http://purl.obolibrary.org/obo/GO_0051348		
GO:0051349	biolink:NamedThing	positive regulation of lyase activity	Any process that activates or increases the frequency, rate or extent of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond.		mondo.json	lyase activator|upregulation of lyase activity|stimulation of lyase activity|up regulation of lyase activity|activation of lyase activity|up-regulation of lyase activity	http://purl.obolibrary.org/obo/GO_0051349		
HGNC:6617	biolink:NamedThing	LIPA			mondo.json		http://identifiers.org/hgnc/6617		
HGNC:6619	biolink:NamedThing	LIPC			mondo.json		http://identifiers.org/hgnc/6619		
GO:0016937	biolink:NamedThing	short-branched-chain-acyl-CoA dehydrogenase activity	Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor, where the acyl group is a short branched chain fatty acid residue.		mondo.json		http://purl.obolibrary.org/obo/GO_0016937		
HGNC:6621	biolink:NamedThing	LIPE			mondo.json		http://identifiers.org/hgnc/6621		
OBO:mondo#has_onset_before	biolink:NamedThing	has_onset_before			mondo.json		http://purl.obolibrary.org/obo/mondo#has_onset_before		
GO:0051340	biolink:NamedThing	regulation of ligase activity	Any process that modulates the frequency, rate or extent of ligase activity, the catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6.		mondo.json	ligase regulator	http://purl.obolibrary.org/obo/GO_0051340		
GO:0051341	biolink:NamedThing	regulation of oxidoreductase activity	Any process that modulates the frequency, rate or extent of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced.		mondo.json	oxidoreductase regulator	http://purl.obolibrary.org/obo/GO_0051341		
HP:0011013	biolink:PhenotypicFeature	Abnormal circulating carbohydrate concentration	A deviation from the normal concentration of a carbohydrate in the blood circulation.	UMLS:C4023599	mondo.json		http://purl.obolibrary.org/obo/HP_0011013		
HP:0011014	biolink:PhenotypicFeature	Abnormal glucose homeostasis	Abnormality of glucose homeostasis.	UMLS:C4023598	mondo.json		http://purl.obolibrary.org/obo/HP_0011014		
HP:0011015	biolink:PhenotypicFeature	Abnormal blood glucose concentration	An abnormality of the concentration of glucose in the blood.	UMLS:C4023597	mondo.json	Abnormality of blood glucose concentration	http://purl.obolibrary.org/obo/HP_0011015		
HP:0011016	biolink:PhenotypicFeature	obsolete Abnormality of urine glucose concentration			mondo.json		http://purl.obolibrary.org/obo/HP_0011016		
HP:0011017	biolink:PhenotypicFeature	Abnormal cellular physiology	An abnormality in a cellular process.	UMLS:C4023595	mondo.json	Abnormality of cell physiology	http://purl.obolibrary.org/obo/HP_0011017		
HP:0001686	biolink:PhenotypicFeature	Loss of voice		MSH:D001044|SNOMEDCT_US:44564008|UMLS:C0003564|SNOMEDCT_US:441913003	mondo.json	Aphonia	http://purl.obolibrary.org/obo/HP_0001686		
ENVO:01001242	biolink:NamedThing	canopy	A vegetation layer which is formed by a collection of individual plant crowns, themselves constituting part of the aboveground portion of a plant community.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001242		
MONDO:0036591	biolink:Disease	adrenal cortex neoplasm	A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05)	NCIT:C2858|MESH:D000306	mondo.json	adrenal cortex tumor|neoplasm of adrenal cortex|adrenocortical neoplasm|adrenocortical tumor|adrenal cortex neoplasm|tumor of adrenal cortex	http://purl.obolibrary.org/obo/MONDO_0036591	NCIT:C2858|http://identifiers.org/mesh/D000306	
ENVO:01001243	biolink:NamedThing	forest ecosystem	An ecosystem which is determined by communities of plants with a tree growth form and in which members of those communities form continuous or discontinuous regions of canopy cover.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001243		
MONDO:0036595	biolink:Disease	ovarian Sertoli-Leydig cell tumor	A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8.	NCIT:C2880|SCTID:254866007|UMLS:C0003810|EFO:1000429	mondo.json	arrhenoblastoma|Sertoli-Leydig neoplasm of the ovary|Sertoli-Leydig neoplasm of ovary|ovarian Sertoli-Leydig cell tumor|androblastoma|Sertoli-Leydig cell tumor of the ovary|Sertoli-Leydig cell tumor of ovary|ovarian Sertoli-Leydig cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0036595	http://identifiers.org/snomedct/254866007|UMLS:C0003810|NCIT:C2880	
ENVO:01001239	biolink:NamedThing	forest canopy			mondo.json		http://purl.obolibrary.org/obo/ENVO_01001239		
MONDO:0024597	biolink:Disease	obsolete CD3epsilon deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0024597		
HP:0011001	biolink:PhenotypicFeature	Increased bone mineral density	An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.	MSH:D010026|SNOMEDCT_US:49347007|UMLS:C0029464	mondo.json	Increased bone density|Osteosclerosis|Increased bone mineral density|Osteosclerosis of bones	http://purl.obolibrary.org/obo/HP_0011001		
HP:0011002	biolink:PhenotypicFeature	Osteopetrosis	Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal.	MSH:D010022|SNOMEDCT_US:367489004|UMLS:C0029454|SNOMEDCT_US:1926006	mondo.json	Albers-Schönberg disease|Marble bone disease|Albers-Schoenberg disease|Albers-Schonberg disease|Harder, denser, fracture-prone bones	http://purl.obolibrary.org/obo/HP_0011002		
HP:0011004	biolink:PhenotypicFeature	Abnormal systemic arterial morphology	An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries.	UMLS:C0151489|Fyler:2600|SNOMEDCT_US:234119001|UMLS:C4021205	mondo.json	Arterial abnormalities|Abnormal systemic artery morphology|Abnormality of the systemic arterial tree|Systemic artery abnormality	http://purl.obolibrary.org/obo/HP_0011004		
NCBITaxon:1913638	biolink:OrganismalEntity	Zoopagomycota		GC_ID:1|PMID:27738200	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1913638		
NCBITaxon:1913637	biolink:OrganismalEntity	Mucoromycota		GC_ID:1|PMID:27738200	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1913637		
HP:0001697	biolink:PhenotypicFeature	Abnormal pericardium morphology	An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery.	Fyler:1900|UMLS:C4025754	mondo.json	Abnormality of the pericardium	http://purl.obolibrary.org/obo/HP_0001697		
HP:0001698	biolink:PhenotypicFeature	Pericardial effusion	Accumulation of fluid within the pericardium.	MSH:D010490|Fyler:1940|SNOMEDCT_US:373945007|UMLS:C0031039	mondo.json	Pericardial effusions|Fluid around heart	http://purl.obolibrary.org/obo/HP_0001698		
HP:0011008	biolink:PhenotypicFeature	Temporal pattern	The speed at which disease manifestations appear and develop.	UMLS:C4021204	mondo.json	Speed of onset	http://purl.obolibrary.org/obo/HP_0011008		
CHR:9606-chr20q13.2-q13.3	biolink:NamedThing	20q13.2-q13.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr20q13.2-q13.3		
HP:0001669	biolink:PhenotypicFeature	Transposition of the great arteries	A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle.	SNOMEDCT_US:204296002|SNOMEDCT_US:26146002|UMLS:C3536741	mondo.json	Transposition of great vessels	http://purl.obolibrary.org/obo/HP_0001669		
MONDO:0024582	biolink:Disease	male reproductive system neoplasm	A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma.	ICD9:239.5|SCTID:126895004|NCIT:C3054	mondo.json	tumor of male reproductive organ|male reproductive organ neoplasm|tumor of Male reproductive system|tumor of the Male reproductive system|Male reproductive system neoplasm|neoplasm of male reproductive organ|male reproductive organ tumor|neoplasm of Male reproductive system|neoplasm of the Male reproductive system|Male reproductive system tumor	http://purl.obolibrary.org/obo/MONDO_0024582	http://identifiers.org/snomedct/126895004|NCIT:C3054	
MONDO:0024581	biolink:Disease	obsolete MONDO:0024581			mondo.json		http://purl.obolibrary.org/obo/MONDO_0024581		
MONDO:0024583	biolink:Disease	obsolete hernia	OBSOLETE. The protrusion of part of an organ or fibroadipose tissue through an abnormal opening.	NCIT:C34685|MESH:D006547|ICD10CM:K40-K46	mondo.json	hernias|enterocele	http://purl.obolibrary.org/obo/MONDO_0024583	http://identifiers.org/mesh/D006547|NCIT:C34685|http://purl.bioontology.org/ontology/ICD10CM/K40-K46	
HP:0001662	biolink:PhenotypicFeature	Bradycardia	A slower than normal heart rate (in adults, slower than 60 beats per minute).	MSH:D001919|UMLS:C0428977|SNOMEDCT_US:48867003	mondo.json	Slow heartbeats|Brachycardia	http://purl.obolibrary.org/obo/HP_0001662		
HP:0001663	biolink:PhenotypicFeature	Ventricular fibrillation	Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.	UMLS:C0042510|MSH:D014693|SNOMEDCT_US:71908006	mondo.json		http://purl.obolibrary.org/obo/HP_0001663		
HP:0001660	biolink:PhenotypicFeature	Truncus arteriosus	A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.	MSH:D014338|Fyler:500|SNOMEDCT_US:58140002|ICD-10:Q20.0|Fyler:0500|UMLS:C4020867|UMLS:C0041206	mondo.json	Common arterial trunk|Persistant truncus arteriosus	http://purl.obolibrary.org/obo/HP_0001660		
HP:0025634	biolink:PhenotypicFeature	Abnormal ureter physiology	A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.		mondo.json		http://purl.obolibrary.org/obo/HP_0025634		
MONDO:0024575	biolink:Disease	pregnancy disorder	A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor.	SCTID:173300003|MESH:D011248|NCIT:C35169	mondo.json	disorder of pregnancy|pregnancy disorder|complication, pregnancy|pregnancy disease|complication of pregnancy or childbirth|disorder of pregnancy, childbirth, or puerperium|Complications, pregnancy|pregnancy complication	http://purl.obolibrary.org/obo/MONDO_0024575	http://identifiers.org/mesh/D011248|http://identifiers.org/snomedct/173300003|NCIT:C35169	
MONDO:0024574	biolink:Disease	von Willebrand disease (hereditary or acquired)	Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding.	ICD9:286.4|ICD10CM:D68.0|NCIT:C68677|SCTID:128105004|MESH:D014842	mondo.json	von Willebrand's disease|von Willebrand disorder|von Willebrand disease|VWD	http://purl.obolibrary.org/obo/MONDO_0024574	NCIT:C68677|http://purl.bioontology.org/ontology/ICD10CM/D68.0|http://identifiers.org/mesh/D014842|http://identifiers.org/snomedct/128105004	
HP:0001679	biolink:PhenotypicFeature	Abnormal aortic morphology	An abnormality of the aorta.	UMLS:C4025756|Fyler:1453	mondo.json	Abnormality of the aorta|Abnormal aorta morphology	http://purl.obolibrary.org/obo/HP_0001679		
MONDO:0024571	biolink:Disease	AIDS-related disorder	A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome.	UMLS:C0877121|NCIT:C4991	mondo.json	AIDS/HIV - relatedDisease associated with AIDS|disease associated with AIDS|AIDS-related disorder|AIDS-related complications	http://purl.obolibrary.org/obo/MONDO_0024571	UMLS:C0877121|NCIT:C4991	
MONDO:0024570	biolink:Disease	hyperparathyroidism 4	Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene.	UMLS:C4479229|OMIM:617343|UMLS:CN240514	mondo.json	hyperparathyroidism 4|HRPT4|GCM2 familial isolated hyperparathyroidism|hyperparathyroidism type 4|familial isolated hyperparathyroidism caused by mutation in GCM2	http://purl.obolibrary.org/obo/MONDO_0024570	UMLS:C4479229|https://omim.org/entry/617343|UMLS:CN240514	
MONDO:0024573	biolink:Disease	familial hypertrophic cardiomyopathy	Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions.	OMIMPS:192600|NCIT:C84773|Orphanet:155|DOID:0080326|MESH:D024741|GARD:0007229|SCTID:471885006	mondo.json	familila or idiopathic hypertrophic obstructive cardiomyopathy|hereditary hypertrophic cardiomyopathy|hypertrophic familial cardiomyopathy|familial hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic	http://purl.obolibrary.org/obo/MONDO_0024573	http://identifiers.org/mesh/D024741|NCIT:C84773|http://identifiers.org/snomedct/471885006|DOID:0080326|Orphanet:155|https://omim.org/phenotypicSeries/PS192600	
MONDO:0024572	biolink:Disease	immunodeficiency-related disorder	A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation.	UMLS:C1334159|NCIT:C35686	mondo.json	Immunodepression-related disorder|immunodeficiency-related disorder|Immunosuppression-related disorder|Immunosuppression disorders	http://purl.obolibrary.org/obo/MONDO_0024572	UMLS:C1334159|NCIT:C35686	
MONDO:0012597	biolink:Disease	prostate cancer, hereditary, 9		MESH:C567031|OMIM:610997|UMLS:C1970250	mondo.json	HPC9|prostate cancer, hereditary, type 9|prostate cancer, hereditary, 9	http://purl.obolibrary.org/obo/MONDO_0012597	UMLS:C1970250|http://identifiers.org/mesh/C567031|https://omim.org/entry/610997	
MONDO:0012598	biolink:Disease	fibromatosis, gingival, 4		GARD:0002475|OMIM:611010|MESH:C567028	mondo.json	fibromatosis gingival, hereditary, 4|gingival fibromatosis, 4|fibromatosis, gingival, hereditary, 4|GGF4|HGF4|hereditary gingival fibromatosis, 4|fibromatosis, gingival, 4|GINGF4	http://purl.obolibrary.org/obo/MONDO_0012598	https://omim.org/entry/611010|http://identifiers.org/mesh/C567028	
MONDO:0012595	biolink:Disease	leprosy, susceptibility to, 4	Any leprosy in which the cause of the disease is a mutation in the LTA gene.	OMIM:610988	mondo.json	leprosy, susceptibility to, type 4|LPRS4|leprosy caused by mutation in LTA|leprosy, early-onset, susceptibility to|LTA leprosy|susceptibility to leprosy 4|leprosy, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0012595	https://omim.org/entry/610988	predisposition
MONDO:0012596	biolink:Disease	PSAT deficiency	Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.	MESH:C567032|GARD:0013273|SCTID:718603002|OMIM:610992|Orphanet:284417|DOID:0050723|UMLS:C1970253	mondo.json	phosphoserine aminotransferase deficiency|PSAT deficiency|PSATD	http://purl.obolibrary.org/obo/MONDO_0012596	http://identifiers.org/snomedct/718603002|UMLS:C1970253|http://identifiers.org/mesh/C567032|https://omim.org/entry/610992|Orphanet:284417|DOID:0050723	ordo_disease
MONDO:0012599	biolink:Disease	hypertension, essential, susceptibility to, 8		OMIM:611014	mondo.json	hypertension, essential, susceptibility to, 8|HYT8	http://purl.obolibrary.org/obo/MONDO_0012599	https://omim.org/entry/611014	predisposition
MONDO:0012590	biolink:Disease	XFE progeroid syndrome	A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13.	GARD:0010628|DOID:0060590|MESH:C567043|OMIM:610965|UMLS:C1970416	mondo.json	XFE progeroid syndrome|XPF-ERCC1 progeroid syndrome|XFEPS	http://purl.obolibrary.org/obo/MONDO_0012590	DOID:0060590|UMLS:C1970416|http://identifiers.org/mesh/C567043|https://omim.org/entry/610965	gard_rare
MONDO:0012593	biolink:Disease	brain-lung-thyroid syndrome	Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC).	MESH:C567034|GARD:0012163|OMIM:610978|SCTID:719098007|Orphanet:209905	mondo.json	choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|choreoathetosis, hypothyroidism, and neonatal respiratory distress|BLT syndrome|CAHTP|choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction|choreoathetosis-hypothyroidism-neonatal respiratory distress|brain-lung-thyroid syndrome	http://purl.obolibrary.org/obo/MONDO_0012593	http://identifiers.org/snomedct/719098007|http://identifiers.org/mesh/C567034|https://omim.org/entry/610978|Orphanet:209905	gard_rare|ordo_disease
MONDO:0012594	biolink:Disease	complement factor I deficiency		OMIM:610984|MESH:C572568|DOID:0050419|UMLS:C3463916|Orphanet:200418	mondo.json	immunodeficiency with factor I anomaly|complement factor I deficiency|CFID|complement Factor 1 deficiency|complement component 3 inactivator deficiency|C3 inactivator deficiency	http://purl.obolibrary.org/obo/MONDO_0012594	UMLS:C3463916|http://identifiers.org/mesh/C572568|https://omim.org/entry/610984|DOID:0050419|Orphanet:200418	ordo_disease
MONDO:0012591	biolink:Disease	osteogenesis imperfecta type 5	Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI).	GARD:0008699|DOID:0110344|MESH:C567042|Orphanet:216828|UMLS:C1970414|OMIM:610967	mondo.json	osteogenesis imperfecta type V|OI with calcification in interosseous membranes|osteogenesis imperfecta, type V|type V OI|IFITM5 osteogenesis imperfecta|OI5|OI type V|osteogenesis imperfecta caused by mutation in IFITM5|OI type 5|OI, type 5|osteogenesis imperfecta, type 5	http://purl.obolibrary.org/obo/MONDO_0012591	Orphanet:216828|http://identifiers.org/mesh/C567042|https://omim.org/entry/610967|DOID:0110344	ordo_clinical_subtype
MONDO:0012592	biolink:Disease	osteogenesis imperfecta type 11	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the FKBP10 gene.	DOID:0110351|Orphanet:216812|OMIM:610968|Orphanet:216820|GARD:0012875|UMLS:C3151218	mondo.json	FKBP10 osteogenesis imperfecta|osteogenesis imperfecta type XI|osteogenesis imperfecta, type 11|OI type XI|OI, type 11|OI type 11|osteogenesis imperfecta, type XI|osteogenesis imperfecta caused by mutation in FKBP10|OI11	http://purl.obolibrary.org/obo/MONDO_0012592	UMLS:C3151218|https://omim.org/entry/610968|DOID:0110351	
ENVO:01001206	biolink:NamedThing	grassland ecosystem	An ecosystem in which grasses (Graminae) are the dominant form of vegetation and determine the system's structure and dynamics.		mondo.json	herbaceous area|grassland|GRASSLAND|down|Grassland|downs|grazing area|downland|glade	http://purl.obolibrary.org/obo/ENVO_01001206		
ENVO:01001205	biolink:NamedThing	lithification	A process during which sediments compact under pressure, expel connate fluids, and gradually become solid sedimentary rock.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001205		
ENVO:01001201	biolink:NamedThing	marine environmental zone	An environmental zone which is bounded by material parts of a marine environment.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001201		
GO:0002384	biolink:NamedThing	hepatic immune response	An immune response taking place in the liver.		mondo.json		http://purl.obolibrary.org/obo/GO_0002384		
GO:0002381	biolink:NamedThing	immunoglobulin production involved in immunoglobulin-mediated immune response	The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus during an immune response, resulting in an increase in its intracellular or extracellular levels.		mondo.json	immunoglobulin production during immune response|immunoglobulin production involved in immunoglobulin mediated immune response|immunoglobulin production involved in immune response|antibody secretion during immune response|immunoglobulin biosynthetic process involved in immune response|immunoglobulin secretion involved in immune response|antibody production during immune response	http://purl.obolibrary.org/obo/GO_0002381		
ENVO:01001200	biolink:NamedThing	anthropised terrestrial environmental zone	A terrestrial zone which is bounded by constructed, manufactured, or other anthropogenic material entities.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001200		
HP:0011043	biolink:PhenotypicFeature	Abnormality of circulating adrenocorticotropin level	An abnormal concentration of corticotropin in the blood.	UMLS:C4023574	mondo.json	Abnormality of circulating adrenocorticotropin level|Abnormality of circulating corticotropin level|Abnormality of circulating adrenocorticotropic hormone level|Abnormality of circulating ACTH level	http://purl.obolibrary.org/obo/HP_0011043		
HP:0011042	biolink:PhenotypicFeature	Abnormal blood potassium concentration	An abnormal concentration of potassium.	UMLS:C4023575	mondo.json	Abnormal blood K concentration|Abnormality of potassium homeostasis	http://purl.obolibrary.org/obo/HP_0011042		
CHEBI:77425	biolink:ChemicalSubstance	EC 1.1.1.188 (prostaglandin-F synthase) inhibitor	An EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor) inhibitor that interferes with the action of prostaglandin-F synthase (EC 1.1.1.188).		mondo.json	PGF synthetase inhibitor|prostaglandin D2-ketoreductase inhibitors|prostaglandin 11-ketoreductase inhibitor|EC 1.1.1.188 inhibitor|reductase, 15-hydroxy-11-oxoprostaglandin inhibitor|PGD2 11-ketoreductase inhibitors|reductase, 15-hydroxy-11-oxoprostaglandin inhibitors|PGD2 11-ketoreductase inhibitor|prostaglandin 11-ketoreductase inhibitors|EC 1.1.1.188 inhibitors|PGF synthetase inhibitors|prostaglandin D2-ketoreductase inhibitor|prostaglandin-D2 11-reductase inhibitors|(5Z,13E)-(15S)-9alpha,11alpha,15-trihydroxyprosta-5,13-dienoate:NADP(+) 11-oxidoreductase inhibitor|synthetase, prostaglandin F2alpha inhibitors|prostaglandin 11-keto reductase inhibitor|prostaglandin F synthase inhibitors|PGF2alpha synthetase inhibitors|prostaglandin F synthetase inhibitors|NADPH-dependent prostaglandin D2 11-keto reductase inhibitors|EC 1.1.1.188 (prostaglandin-F synthase) inhibitors|NADPH-dependent prostaglandin D2 11-keto reductase inhibitor|prostaglandin F synthetase inhibitor|PGF2alpha synthetase inhibitor|prostaglandin F synthase inhibitor|prostaglandin 11-keto reductase inhibitors|synthetase, prostaglandin F2alpha inhibitor|(5Z,13E)-(15S)-9alpha,11alpha,15-trihydroxyprosta-5,13-dienoate:NADP(+) 11-oxidoreductase inhibitors|prostaglandin-D2 11-reductase inhibitor	http://purl.obolibrary.org/obo/CHEBI_77425		
HP:0011032	biolink:PhenotypicFeature	Abnormality of fluid regulation	An abnormality of the regulation of body fluids.	SNOMEDCT_US:1860003|UMLS:C2364164|SNOMEDCT_US:190902006	mondo.json	Fluid imbalance|Abnormality of fluid regulation	http://purl.obolibrary.org/obo/HP_0011032		
ENVO:01001227	biolink:NamedThing	aquatic natural environment	A natural environment which is within a water body.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001227		
HP:0011035	biolink:PhenotypicFeature	Abnormal renal cortex morphology	An abnormality of the cortex of the kidney.	UMLS:C4023580	mondo.json	Abnormality of renal cortex morphology	http://purl.obolibrary.org/obo/HP_0011035		
ENVO:01001226	biolink:NamedThing	terrestrial natural environment	A natural environment which is located on a land mass.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001226		
GO:0002366	biolink:NamedThing	leukocyte activation involved in immune response	A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response.		mondo.json	immune cell activation during immune response|leucocyte activation during immune response|leukocyte activation during immune response	http://purl.obolibrary.org/obo/GO_0002366		
GO:0002367	biolink:NamedThing	cytokine production involved in immune response	The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus contributing to an immune response, resulting in an increase in its intracellular or extracellular levels.		mondo.json	cytokine biosynthetic process involved in immune response|cytokine production during immune response|cytokine secretion involved in immune response|cytokine secretion during immune response	http://purl.obolibrary.org/obo/GO_0002367		
HP:0011030	biolink:PhenotypicFeature	Abnormal blood transition element cation concentration	An abnormality of the homeostasis (concentration) of transition element cation.	UMLS:C4023584	mondo.json	Abnormality of transition element cation homeostasis	http://purl.obolibrary.org/obo/HP_0011030		
HP:0011031	biolink:PhenotypicFeature	Abnormality of iron homeostasis	An abnormality of the homeostasis (concentration) of iron cation.	UMLS:C4023583	mondo.json		http://purl.obolibrary.org/obo/HP_0011031		
ENVO:01001216	biolink:NamedThing	ultraviolet stellar radiation	A stellar radiation process during which electromagnetic waves or their quanta are emitted from a star at wavelengths between 10 nm and 400 nm.		mondo.json	ultraviolet solar radiation	http://purl.obolibrary.org/obo/ENVO_01001216		
HP:0011024	biolink:PhenotypicFeature	Abnormality of the gastrointestinal tract	An abnormality of the gastrointestinal tract.	SNOMEDCT_US:25374005|SNOMEDCT_US:119292006|MSH:D004066|UMLS:C0012242|SNOMEDCT_US:53619000|UMLS:C0017178|UMLS:C4023588|MSH:D005767	mondo.json	Abnormality of the GI tract|Gastrointestinal disease|Digestive system disease|Abnormality of the gastrointestinal tract	http://purl.obolibrary.org/obo/HP_0011024		
HP:0011025	biolink:PhenotypicFeature	Abnormal cardiovascular system physiology	Abnormal functionality of the cardiovascular system.	UMLS:C4023587	mondo.json	Abnormality of cardiovascular system physiology	http://purl.obolibrary.org/obo/HP_0011025		
GO:0002376	biolink:NamedThing	immune system process	Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats.		mondo.json		http://purl.obolibrary.org/obo/GO_0002376		
ENVO:01001215	biolink:NamedThing	visible spectrum stellar radiation	A stellar radiation process during which electromagnetic waves or their quanta are emitted from a star at wavelengths between 380 nm and 760 nm.		mondo.json	optical stellar radiation|visible spectrum solar radiation	http://purl.obolibrary.org/obo/ENVO_01001215		
GO:0002377	biolink:NamedThing	immunoglobulin production	The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels.		mondo.json	antibody production|immunoglobulin biosynthetic process|immunoglobulin secretion	http://purl.obolibrary.org/obo/GO_0002377		
HP:0011028	biolink:PhenotypicFeature	Abnormality of blood circulation	An abnormality of blood circulation.	UMLS:C4020760|UMLS:C4023585	mondo.json	Blood circulation disorder	http://purl.obolibrary.org/obo/HP_0011028		
HGNC:21390	biolink:NamedThing	RIPPLY2			mondo.json		http://identifiers.org/hgnc/21390		
HGNC:21396	biolink:NamedThing	ABHD5			mondo.json		http://identifiers.org/hgnc/21396		
HP:0011029	biolink:PhenotypicFeature	Internal hemorrhage	The presence of hemorrhage within the body.	UMLS:C1390214	mondo.json	Internal bleeding|Internal haemorrhage	http://purl.obolibrary.org/obo/HP_0011029		
ENVO:01001211	biolink:NamedThing	stellar radiation	An electromagnetic radiation process during which electromagnetic waves or their quanta are emitted from a star.		mondo.json	solar radiation	http://purl.obolibrary.org/obo/ENVO_01001211		
MONDO:0000432	biolink:Disease	lymphoplasmacytic lymphoma	A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein.	ICD9:273.3|ONCOTREE:LPL|SCTID:190817009|ICDO:9761/3|UMLS:C0334633|ICDO:9671/3|NCIT:C3212|DOID:0050747	mondo.json	lymphoma, lymphoplasmacytic, malignant|lymphoplasmacytic lymphoma (Waldenstrom macroglobulinemia)|lymphoma, plasmacytic|lymphoplasmacytoid lymphoma|Immunocytoma, lymphoplasmacytic type|lymphoplasmacytic lymphoma	http://purl.obolibrary.org/obo/MONDO_0000432	DOID:0050747|NCIT:C3212|UMLS:C0334633	
MONDO:0000431	biolink:Disease	obsolete mantle cell lymphoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000431		
MONDO:0000430	biolink:Disease	mature T-cell and NK-cell non-Hodgkin lymphoma	This type of lymphoma is not frequently seen in the western hemisphere. Clinically, with the exception of anaplastic large cell lymphoma, mature T- and NK-cell lymphomas are among the most aggressive of all hematopoietic neoplasms. Representative disease entities include mycosis fungoides, angioimmunoblastic T-cell lymphoma, hepatosplenic T-cell lymphoma, and anaplastic large cell lymphoma.	DOID:0050743|MESH:D016411|ICDO:9702/3|GARD:0007368|SCTID:109977009|ICD10CM:C84.4|DOID:0050749|NCIT:C3468	mondo.json	NK-T cell lymphoma|mature T-cell and NK-cell non-Hodgkin's lymphoma|PTCL|mature T-cell and NK-cell non-Hodgkin lymphoma|mature T-cell lymphoma|peripheral T-cell lymphoma|mature T-cell non-Hodgkin's lymphoma|mature T-and NK-cell lymphoma|mature T-cell and natural killer cell lymphoma|mature T-cell and NK-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0000430	DOID:0050743|DOID:0050749|http://purl.bioontology.org/ontology/ICD10CM/C84.4|http://identifiers.org/mesh/D016411|http://identifiers.org/snomedct/109977009|NCIT:C3468	gard_rare
MONDO:0000436	biolink:Disease	obsolete T-cell large granular lymphocyte leukemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000436		
MONDO:0000435	biolink:Disease	obsolete splenic marginal zone lymphoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000435		
MONDO:0000434	biolink:Disease	obsolete peripheral T-cell lymphoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000434		
MONDO:0024404	biolink:Disease	obsolete meningitis caused by anaerobic bacteria			mondo.json		http://purl.obolibrary.org/obo/MONDO_0024404		
MONDO:0000433	biolink:Disease	obsolete marginal zone B-cell lymphoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000433		
MONDO:0012418	biolink:Disease	autosomal recessive nonsyndromic hearing loss 62	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23.	OMIM:610143|DOID:0110514|MESH:C565719|UMLS:C1857820	mondo.json	autosomal recessive nonsyndromic deafness type 62|autosomal recessive nonsyndromic deafness 62|autosomal recessive deafness 62|DFNB62|deafness, autosomal recessive 62	http://purl.obolibrary.org/obo/MONDO_0012418	https://omim.org/entry/610143|UMLS:C1857820|http://identifiers.org/mesh/C565719|DOID:0110514	
MONDO:0012419	biolink:Disease	age related macular degeneration 7	Any age-related macular degeneration in which the cause of the disease is a mutation in the HTRA1 gene.	OMIM:610149|UMLS:C1857813|DOID:0110019|MESH:C565718	mondo.json	ARMD7|macular Degeneration, age-related, type 7|macular Degeneration, age-related, neovascular type, susceptibility to|age-related macular degeneration caused by mutation in HTRA1|macular Degeneration, age-related, wet type, susceptibility to|age related macular degeneration type 7|macular degeneration, age-related, neovascular type|HTRA1 age-related macular degeneration|macular degeneration, age-related, 7	http://purl.obolibrary.org/obo/MONDO_0012419	https://omim.org/entry/610149|UMLS:C1857813|DOID:0110019|http://identifiers.org/mesh/C565718	
MONDO:0012416	biolink:Disease	Devriendt syndrome		MESH:C535947|UMLS:C1857830|OMIM:610136|GARD:0010052	mondo.json	Devriendt syndrome|severe short stature, hyperphalangy of the index fingers, intellectual disability and facial dysmorphism|severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism	http://purl.obolibrary.org/obo/MONDO_0012416	https://omim.org/entry/610136|UMLS:C1857830|http://identifiers.org/mesh/C535947	gard_rare
MONDO:0012417	biolink:Disease	heart-hand syndrome, Slovenian type	A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.	UMLS:C1857829|Orphanet:168796|MESH:C535852|GARD:0009846|OMIM:610140|SCTID:721014007	mondo.json	atriodigital dysplasia, Slovenian type|Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome|heart-hand syndrome, Slovenian type	http://purl.obolibrary.org/obo/MONDO_0012417	Orphanet:168796|https://omim.org/entry/610140|UMLS:C1857829|http://identifiers.org/snomedct/721014007|http://identifiers.org/mesh/C535852	gard_rare|ordo_malformation_syndrome
HGNC:21484	biolink:NamedThing	MCM9			mondo.json		http://identifiers.org/hgnc/21484		
MONDO:0012421	biolink:Disease	autosomal recessive nonsyndromic hearing loss 44	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene.	OMIM:610154|DOID:0110501|MESH:C565716|UMLS:C1857809	mondo.json	autosomal recessive nonsyndromic deafness caused by mutation in ADCY1|deafness, autosomal recessive 44|deafness, autosomal recessive type 44|DFNB44|autosomal recessive nonsyndromic deafness type 44|autosomal recessive deafness 44|autosomal recessive nonsyndromic deafness 44|ADCY1 autosomal recessive nonsyndromic deafness	http://purl.obolibrary.org/obo/MONDO_0012421	UMLS:C1857809|http://identifiers.org/mesh/C565716|DOID:0110501|https://omim.org/entry/610154	
MONDO:0012422	biolink:Disease	type 1 diabetes mellitus 19	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q24.3.	UMLS:C1857808|OMIM:610155|DOID:0110756|MESH:C565715	mondo.json	IDDM19|insulin-dependent diabetes mellitus 19|diabetes mellitus, insulin-dependent, 19	http://purl.obolibrary.org/obo/MONDO_0012422	UMLS:C1857808|http://identifiers.org/mesh/C565715|DOID:0110756|https://omim.org/entry/610155	
MONDO:0012420	biolink:Disease	autosomal recessive nonsyndromic hearing loss 49	An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness.	OMIM:610153|DOID:0110506|UMLS:C1857811|NCIT:C129024|MESH:C565717	mondo.json	deafness, autosomal recessive 49|autosomal recessive nonsyndromic deafness caused by mutation in MARVELD2|autosomal recessive nonsyndromic deafness 49|MARVELD2 autosomal recessive nonsyndromic deafness|autosomal recessive deafness 49|DFNB49|autosomal recessive nonsyndromic deafness type 49|deafness, autosomal recessive type 49	http://purl.obolibrary.org/obo/MONDO_0012420	NCIT:C129024|UMLS:C1857811|http://identifiers.org/mesh/C565717|DOID:0110506|https://omim.org/entry/610153	
MONDO:0012425	biolink:Disease	corneal dystrophy, fuchs endothelial, 2		OMIM:610158|MESH:C535479|UMLS:C1857800	mondo.json	corneal dystrophy, Fuchs endothelial, 2|corneal dystrophy, Fuchs endothelial, late-onset|FECD2|Fcd1 locus	http://purl.obolibrary.org/obo/MONDO_0012425	https://omim.org/entry/610158|UMLS:C1857800|http://identifiers.org/mesh/C535479	
MONDO:0012426	biolink:Disease	immunodeficiency 25	Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene.	MESH:C565712|DOID:0060007|UMLS:C1857798|OMIM:610163	mondo.json	IMD25|severe combined immunodeficiency (disease) caused by mutation in CD247|immunodeficiency type 25|CD3zeta deficiency|immunodeficiency due to defect in CD3-zeta|immunodeficiency 25|CD247 severe combined immunodeficiency (disease)	http://purl.obolibrary.org/obo/MONDO_0012426	https://omim.org/entry/610163|UMLS:C1857798|http://identifiers.org/mesh/C565712|DOID:0060007	
MONDO:0012423	biolink:Disease	MORM syndrome	MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.	OMIM:610156|Orphanet:75858|GARD:0010121|MESH:C536984|SCTID:715628009|UMLS:C1857802	mondo.json	intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome|MORM syndrome|mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome|mental retardation, truncal obesity, retinal dystrophy, and micropenis|MORMS|intellectual disability, truncal obesity, retinal dystrophy, and micropenis syndrome|mental retardation, truncal obesity, retinal dystrophy and micropenis|intellectual disability, truncal obesity, retinal dystrophy and micropenis|mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome	http://purl.obolibrary.org/obo/MONDO_0012423	https://omim.org/entry/610156|Orphanet:75858|UMLS:C1857802|http://identifiers.org/mesh/C536984|http://identifiers.org/snomedct/715628009	gard_rare|ordo_disease
MONDO:0012424	biolink:Disease	obsolete heat-shock RNA 1		OMIM:610157	mondo.json	Hsr1|heat-shock RNA type 1|heat-shock RNA 1	http://purl.obolibrary.org/obo/MONDO_0012424	https://omim.org/entry/610157	
MONDO:0000429	biolink:Disease	autosomal genetic disease	A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.	DOID:0050739|UMLS:C0265384|SCTID:1899006|ICD9:758.5	mondo.json	autosomal inherited disorder|autosomal hereditary disorder|autosomal inherited disease	http://purl.obolibrary.org/obo/MONDO_0000429	http://identifiers.org/snomedct/1899006|UMLS:C0265384|DOID:0050739	
MONDO:0000428	biolink:Disease	Y-linked disease	Y-linked form of disease.	DOID:0050738|MESH:D050174|UMLS:C1563751	mondo.json	genetic disease, Y-linked|disease, Y-linked genetic|disease, Y-linked|Y-linked disease or disorder|genetic diseases, Y linked|Y-linked genetic disease|diseases, Y-linked genetic|Y-linked genetic diseases|disease or disorder, Y-linked|Y linked genetic diseases|genetic diseases, Y-chromosome linked|genetic diseases, Y chromosome linked	http://purl.obolibrary.org/obo/MONDO_0000428	UMLS:C1563751|DOID:0050738|http://identifiers.org/mesh/D050174	
MONDO:0000427	biolink:Disease	obsolete autosomal recessive disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000427		
MONDO:0000426	biolink:Disease	autosomal dominant disease	Autosomal dominant form of disease.	DOID:0050736|UMLS:C0265385|SCTID:11164009|ICD9:758.5	mondo.json	disease or disorder, autosomal dominant|autosomal dominant inherited disorder|autosomal dominant disease or disorder|autosomal dominant hereditary disorder|disease, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0000426	UMLS:C0265385|http://identifiers.org/snomedct/11164009|DOID:0050736	
HGNC:6595	biolink:NamedThing	LHX3			mondo.json		http://identifiers.org/hgnc/6595		
HGNC:6597	biolink:NamedThing	LIFR			mondo.json		http://identifiers.org/hgnc/6597		
HGNC:21497	biolink:NamedThing	ACAD9			mondo.json		http://identifiers.org/hgnc/21497		
MONDO:0000443	biolink:Disease	obsolete adenylosuccinase lyase deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000443		
MONDO:0000442	biolink:Disease	obsolete paramyloidosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000442		
MONDO:0000441	biolink:Disease	obsolete X-linked myopathy with excessive autophagy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000441		
MONDO:0000440	biolink:Disease	metabolic acidosis		SCTID:59455009|DOID:0050758	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000440	DOID:0050758|http://identifiers.org/snomedct/59455009	
HGNC:21498	biolink:NamedThing	ATG16L1			mondo.json		http://identifiers.org/hgnc/21498		
MONDO:0000447	biolink:Disease	autosomal dominant polycystic liver disease	An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver.	ICD9:751.62|MedDRA:10083939|NCIT:C82833|OMIMPS:174050|ICD10CM:Q44.6|MedDRA:10010427|DOID:0050770|UMLS:C0158683|GARD:0009457|HP:0006557|SCTID:72925005|MedDRA:10048834|Orphanet:2924	mondo.json	PCLD|ADPLD|congenital hepatic cyst|isolated polycystic liver disease|AD polycystic liver disease|fibrocystic liver disease|congenital cystic liver disease|isolated congenital polycystic liver disease|polycystic liver disease	http://purl.obolibrary.org/obo/MONDO_0000447	NCIT:C82833|http://identifiers.org/meddra/10083939|http://purl.bioontology.org/ontology/ICD10CM/Q44.6|Orphanet:2924|UMLS:C0158683|DOID:0050770|https://omim.org/phenotypicSeries/PS174050|http://identifiers.org/snomedct/72925005	
MONDO:0000446	biolink:Disease	midface dysplasia		DOID:0050767	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000446	DOID:0050767	
MONDO:0000445	biolink:Disease	obsolete neuroacanthocytosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000445		
MONDO:0000444	biolink:Disease	obsolete ARC syndrome			mondo.json	pericyte cell syndromic disease	http://purl.obolibrary.org/obo/MONDO_0000444		
MONDO:0012407	biolink:Disease	pyridoxal phosphate-responsive seizures	Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.	SCTID:724576005|Orphanet:79096|OMIM:610090|MESH:C566449|UMLS:C1864723|GARD:0010730|DOID:0111329	mondo.json	pyridoxine 5' phosphate oxidase deficiency|pyridoxal 5'-phosphate-dependent epilepsy|pyridoxamine 5'-phosphate oxidase deficiency|epileptic encephalopathy, neonatal, Pnpo-related|seizures, pyridoxine-resistant, PLP-sensitive|PNPOD|pyridoxamine 5'-oxidase deficiency|PNPO deficiency|pyridoxine-5'-phosphate oxidase deficiency|pyridoxal phosphate-dependent seizures|Pnpo deficiency|PNPO-related neonatal epileptic encephalopathy|pyridoxamine 5-prime-phosphate oxidase deficiency	http://purl.obolibrary.org/obo/MONDO_0012407	UMLS:C1864723|https://omim.org/entry/610090|http://identifiers.org/snomedct/724576005|http://identifiers.org/mesh/C566449|DOID:0111329|Orphanet:79096	ordo_disease
MONDO:0012408	biolink:Disease	microphthalmia, isolated, with coloboma 3	Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene.	OMIM:610092|UMLS:C1864721|MESH:C566447	mondo.json	MCOPCB3|microphthalmia, colobomatous, isolated 3|microphthalmia, isolated, with coloboma type 3|microphthalmia, isolated, with coloboma 3|VSX2 microphthalmia, isolated, with coloboma|microphthalmia, isolated, with coloboma caused by mutation in VSX2|microphthalmia, cataracts, and iris abnormalities|microphthalmia with coloboma 3	http://purl.obolibrary.org/obo/MONDO_0012408	UMLS:C1864721|https://omim.org/entry/610092|http://identifiers.org/mesh/C566447	
MONDO:0012405	biolink:Disease	polyposis syndrome, hereditary mixed, 2	Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene.	DOID:0111686|UMLS:C1864730|OMIM:610069|MESH:C566451	mondo.json	polyposis syndrome, hereditary mixed, type 2|BMPR1A hereditary mixed polyposis syndrome|HMPS2|polyposis syndrome, hereditary mixed, 2|hereditary mixed polyposis syndrome caused by mutation in BMPR1A	http://purl.obolibrary.org/obo/MONDO_0012405	UMLS:C1864730|https://omim.org/entry/610069|http://identifiers.org/mesh/C566451|DOID:0111686	
MONDO:0012406	biolink:Disease	hyperparathyroidism 3		OMIM:610071|UMLS:C1864729|MESH:C566450	mondo.json	HRPT3|hyperparathyroidism 3|hyperparathyroidism, familial isolated	http://purl.obolibrary.org/obo/MONDO_0012406	UMLS:C1864729|https://omim.org/entry/610071|http://identifiers.org/mesh/C566450	
HGNC:21493	biolink:NamedThing	DNAAF4			mondo.json		http://identifiers.org/hgnc/21493		
MONDO:0012409	biolink:Disease	isolated microphthalmia 2	Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene.	DOID:0060839|OMIM:610093|UMLS:C1864720|MESH:C566446	mondo.json	MCOP2|VSX2 isolated microphthalmia|microphthalmia, isolated 2|anophthalmia, clinical, isolated|isolated microphthalmia caused by mutation in VSX2|microphthalmia, isolated type 2|isolated microphthalmia type 2	http://purl.obolibrary.org/obo/MONDO_0012409	DOID:0060839|UMLS:C1864720|https://omim.org/entry/610093|http://identifiers.org/mesh/C566446	
MONDO:0012410	biolink:Disease	Finnish upper limb-onset distal myopathy	Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common.	Orphanet:399086|OMIM:610099|SCTID:763718009|UMLS:C1864706	mondo.json	distal myopathy type 3|myopathy, distal, 3|MPD3	http://purl.obolibrary.org/obo/MONDO_0012410	https://omim.org/entry/610099|Orphanet:399086|UMLS:C1864706|http://identifiers.org/snomedct/763718009	ordo_disease
MONDO:0012411	biolink:Disease	giant axonal neuropathy 2	Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene.	OMIM:610100|DOID:0090069|GARD:0012447|UMLS:CN226146|Orphanet:401964|UMLS:C1864695	mondo.json	GAN2|HMSN2 with giant axons|autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons|DCAF8 giant axonal neuropathy|autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons|CMT2 with giant axons|giant axonal neuropathy caused by mutation in DCAF8|giant axonal neuropathy 2, autosomal dominant|giant axonal neuropathy type 2	http://purl.obolibrary.org/obo/MONDO_0012411	https://omim.org/entry/610100|UMLS:CN226146|Orphanet:401964|DOID:0090069|UMLS:C1864695	ordo_disease
ENVO:01001192	biolink:NamedThing	sediment surface	The surface layer of a mass of sediment.		mondo.json	surface sediment|surface of a sedimentary mass	http://purl.obolibrary.org/obo/ENVO_01001192		
ENVO:01001191	biolink:NamedThing	water surface	The surface layer of a volume of water.		mondo.json	water body surface|surface of a body of water	http://purl.obolibrary.org/obo/ENVO_01001191		
MONDO:0012414	biolink:Disease	neuronal ceroid lipofuscinosis 10	A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.	OMIM:610127|SCTID:720831008|GARD:0001218|MESH:C566438|Orphanet:228337|DOID:0110725	mondo.json	CLN10-NCL|CLN10 disease, congenital (subtype)|neuronal ceroid lipofuscinosis due to cathepsin D deficiency|neuronal ceroid lipofuscinosis cathepsin D-deficient|CLN10|CLN10 disease, adult (subtype)|CLN10 disease, late infantile (subtype)|ceroid lipofuscinosis neuronal Cathepsin D-deficient|neuronal ceroid lipofuscinosis, congenital|neuronal ceroid lipofuscinosis type 10|CTSD neuronal ceroid lipofuscinosis|ceroid lipofuscinosis, neuronal, Cathepsin D-deficient|CLN10 disease, juvenile (subtype)|CLN10 disease|Cathepsin D deficiency|ceroid lipofuscinosis, neuronal, type 10|neuronal ceroid lipofuscinosis due to Cathepsin D deficiency|ceroid lipofuscinosis, neuronal, 10|neuronal ceroid lipofuscinosis caused by mutation in CTSD	http://purl.obolibrary.org/obo/MONDO_0012414	Orphanet:228337|https://omim.org/entry/610127|http://identifiers.org/mesh/C566438|http://identifiers.org/snomedct/720831008|DOID:0110725	ordo_etiological_subtype|gard_rare
MONDO:0012415	biolink:Disease	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene.	MESH:C566437|UMLS:C1864668|DOID:0111525|OMIM:610131	mondo.json	progressive external ophthalmoplegia, autosomal dominant 4|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4|POLG2 progressive external ophthalmoplegia with mitochondrial DNA deletions|PEOA4|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in POLG2|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 4	http://purl.obolibrary.org/obo/MONDO_0012415	UMLS:C1864668|https://omim.org/entry/610131|http://identifiers.org/mesh/C566437|DOID:0111525	
MONDO:0012412	biolink:Disease	complement component 7 deficiency	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene.	UMLS:C1864694|OMIM:610102|DOID:0060300|MESH:C566443	mondo.json	C7 classic complement early component deficiency|complement component 7 deficiency|C7 deficiency|C7D|classic complement early component deficiency caused by mutation in C7	http://purl.obolibrary.org/obo/MONDO_0012412	https://omim.org/entry/610102|http://identifiers.org/mesh/C566443|DOID:0060300|UMLS:C1864694	
MONDO:0012413	biolink:Disease	syndromic microphthalmia type 5	Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.	Orphanet:178364|SCTID:718761007|OMIM:610125|MESH:C566441|UMLS:C1864690|UMLS:C4305151|GARD:0003692	mondo.json	microphthalmia, syndromic 5|syndromic microphthalmia type 5|syndromic microphthalmia/anophthalmia due to OTX2 mutation|MCOPS5|OTX2-related eye disorders|microphthalmia, syndromic type 5|microphthalmia syndromic 5|syndromic microphthalmia caused by mutation in OTX2|retinal dystrophy, early-onset, with or without pituitary dysfunction|OTX2 syndromic microphthalmia	http://purl.obolibrary.org/obo/MONDO_0012413	Orphanet:178364|UMLS:C4305151|https://omim.org/entry/610125|http://identifiers.org/snomedct/718761007|http://identifiers.org/mesh/C566441|UMLS:C1864690	ordo_malformation_syndrome
MONDO:0000439	biolink:Disease	obsolete batten disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000439		
MONDO:0000438	biolink:Disease	obsolete ataxia with oculomotor apraxia type 2			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000438		
MONDO:0000437	biolink:Disease	cerebellar ataxia	A neurological syndrome characterised by clumsy and unco-ordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways.	SCTID:85102008|NCIT:C82341|MESH:D002524|GARD:0012060|UMLS:C0087012|ICD9:334.3|DOID:0050753|Orphanet:102002	mondo.json	cerebellar dysmetria|spinocerebellar ataxia|ataxia, cerebellar|cerebellar Dysmetrias|ataxias, cerebellar|ataxia|cerebellar Ataxias|rare ataxia|ataxia syndrome|spinocerebellar Degeneration	http://purl.obolibrary.org/obo/MONDO_0000437	NCIT:C82341|http://identifiers.org/snomedct/85102008|http://identifiers.org/mesh/D002524|DOID:0050753|Orphanet:102002|UMLS:C0087012	ordo_group_of_disorders|disease_grouping
ENVO:01001199	biolink:NamedThing	terrestrial environmental zone	An environmental zone which is bounded by material parts of a land mass or the atmosphere or space adjacent to it.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001199		
MONDO:0000410	biolink:Disease	funisitis	An acute inflammation of the umbilical cord. It is characterized by the presence of polymorphonuclear cells migrating from the fetal umbilical cord vessels through the umbilical cord towards the bacteria containing amniotic fluid.	NCIT:C97077|SCTID:396343006|DOID:0050698|ICD9:658.80|UMLS:C1275592	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000410	DOID:0050698|http://identifiers.org/snomedct/396343006|NCIT:C97077|UMLS:C1275592	
MONDO:0000414	biolink:Disease	childhood electroclinical syndrome	A electroclinical syndrome that occurs during childhood.	DOID:0050704	mondo.json	pediatric electroclinical syndrome|electroclinical syndrome of childhood	http://purl.obolibrary.org/obo/MONDO_0000414	DOID:0050704	
UBERON:0008281	biolink:AnatomicalEntity	tooth bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008281		
MONDO:0000413	biolink:Disease	infancy electroclinical syndrome	An electroclinical syndrome with onset in infancy occurring between birth and one year of age.	DOID:0050703	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000413	DOID:0050703	
MONDO:0000412	biolink:Disease	neonatal period electroclinical syndrome	An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.	DOID:0050702	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000412	DOID:0050702	
MONDO:0000411	biolink:Disease	electroclinical syndrome	An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.	DOID:0050701	mondo.json	electro-clinical syndrome	http://purl.obolibrary.org/obo/MONDO_0000411	DOID:0050701	
NCBITaxon:544448	biolink:OrganismalEntity	Tenericutes		PMID:29458499|PMID:26654112|GC_ID:11	mondo.json	Mollicutota|Mollicutaeota|Tenericuteota	http://purl.obolibrary.org/obo/NCBITaxon_544448		
HP:0001824	biolink:PhenotypicFeature	Weight loss	Reduction of total body weight.	SNOMEDCT_US:161832001|UMLS:C1262477|SNOMEDCT_US:89362005|SNOMEDCT_US:262285001|MSH:D015431	mondo.json	Loss of weight	http://purl.obolibrary.org/obo/HP_0001824		
MONDO:0012400	biolink:Disease	cortical dysplasia-focal epilepsy syndrome	An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder.	UMLS:C1864887|MESH:C567657|Orphanet:163681|DOID:0090130|OMIM:610042|NCIT:C133743	mondo.json	CDFES|Pitt-Hopkins-like syndrome 1|CDFE syndrome|cortical dysplasia-focal epilepsy syndrome|Pitt-Hopkins like syndrome 1|PTHSL1	http://purl.obolibrary.org/obo/MONDO_0012400	https://omim.org/entry/610042|http://identifiers.org/mesh/C567657|NCIT:C133743|DOID:0090130|Orphanet:163681	ordo_disease
MONDO:0012403	biolink:Disease	systemic lupus erythematosus, susceptibility to, 7		OMIM:610065	mondo.json	systemic lupus erythematosus, susceptibility to, 7|SLEB7	http://purl.obolibrary.org/obo/MONDO_0012403	https://omim.org/entry/610065	predisposition
MONDO:0012404	biolink:Disease	systemic lupus erythematosus, susceptibility to, 8		OMIM:610066	mondo.json	systemic lupus erythematosus, susceptibility to, 8|SLEB8	http://purl.obolibrary.org/obo/MONDO_0012404	https://omim.org/entry/610066	predisposition
MONDO:0012401	biolink:Disease	congenital stromal corneal dystrophy	Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.	OMIM:610048|Orphanet:101068|MESH:C566452|SCTID:702359002|ICD9:371.56|DOID:0060445|UMLS:C1864738	mondo.json	CSCD|congenital stromal corneal dystrophy|congenital hereditary stromal dystrophy|Witschel dystrophy|corneal dystrophy, congenital stromal	http://purl.obolibrary.org/obo/MONDO_0012401	UMLS:C1864738|https://omim.org/entry/610048|http://identifiers.org/mesh/C566452|DOID:0060445|Orphanet:101068|http://identifiers.org/snomedct/702359002	ordo_disease
MONDO:0012402	biolink:Disease	opioid dependence, susceptibility to, 1		OMIM:610064	mondo.json	opioid dependence, susceptibility to, 1|Ods1|opioid dependence, susceptibility to, type 1	http://purl.obolibrary.org/obo/MONDO_0012402	https://omim.org/entry/610064	predisposition
MONDO:0000407	biolink:Disease	malignant pleural solitary fibrous tumor	A malignant form of pleural solitary fibrous tumor.	DOID:0050695	mondo.json	pleural solitary fibrous tumor, malignant	http://purl.obolibrary.org/obo/MONDO_0000407	DOID:0050695	
MONDO:0000406	biolink:Disease	obsolete Brown-Vialetto-van Laere syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000406		
MONDO:0000405	biolink:Disease	anal canal cancer	A malignant neoplasm involving the anal canal	ICD9:154.2|UMLS:C0153445|SCTID:363352004|DOID:0050688	mondo.json	cancer of anal canal|anal canal cancer|malignant neoplasm of anal canal|malignant anal canal neoplasm	http://purl.obolibrary.org/obo/MONDO_0000405	UMLS:C0153445|http://identifiers.org/snomedct/363352004|DOID:0050688	
MONDO:0000404	biolink:Disease	obsolete cell type cancer			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000404		
MONDO:0000409	biolink:Disease	chorioamnionitis	A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion.	MESH:D002821|SCTID:11612004|NCIT:C26720|DOID:0050697	mondo.json	inflammation of fetal membrane|fetal membrane inflammation|intra-amniotic infection	http://purl.obolibrary.org/obo/MONDO_0000409	NCIT:C26720|http://identifiers.org/snomedct/11612004|http://identifiers.org/mesh/D002821|DOID:0050697	
MONDO:0000408	biolink:Disease	fetal alcohol spectrum disorder	A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues.	MESH:D063647|UMLS:C2985290|NCIT:C92780|SCTID:609437000|UMLS:CN200663|GARD:0000599|UMLS:CN036067|DOID:0050696	mondo.json	fetal alcohol syndrome|partial fetal alcohol syndrome|FASD|alcohol-related neurodevelopmental disorder (ARND) - type|alcohol related neurodevelopmental disorder|fetal alcohol syndrome (FAS) - type|alcohol-related birth defects|FAE (fetal alcohol effects)|fetal alcohol spectrum disorders|FAEs (fetal alcohol effects)|alcohol related birth defects|growth retardation, facial abnormalities, and central nervous system dysfunction|syndrome, fetal alcohol|alcohol-related birth defects (ARBD) - type|birth defects, alcohol-related|FASDs	http://purl.obolibrary.org/obo/MONDO_0000408	http://identifiers.org/snomedct/609437000|UMLS:C2985290|http://identifiers.org/mesh/D063647|DOID:0050696|NCIT:C92780	gard_rare
MONDO:0000421	biolink:Disease	inborn serine deficiency	An inherited metabolic disease that is has its basis in the disruption of L-serine biosynthetic process.	DOID:0050721	mondo.json	rare inborn error of L-serine biosynthetic process|inborn error of L-serine biosynthetic process|inborn L-serine biosynthetic process disorder	http://purl.obolibrary.org/obo/MONDO_0000421	DOID:0050721	
MONDO:0000420	biolink:Disease	obsolete cerebral folate receptor alpha deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000420		
HGNC:21474	biolink:NamedThing	INPP5E			mondo.json		http://identifiers.org/hgnc/21474		
MONDO:0000425	biolink:Disease	X-linked disease	X-linked form of disease.	UMLS:C2828000|DOID:0050735|UMLS:C1138434|MESH:D040181|NCIT:C85865|SCTID:128430005|ICD9:799.89	mondo.json	X-linked hereditary disease|X-linked disease or disorder|disease, X-linked|X-linked hereditary disorder|X linked genetic diseases|X-linked inherited disease|disease or disorder, X-linked|genetic diseases, X-chromosome linked|genetic disease, X-linked|genetic diseases, X chromosome linked|disease, X-linked genetic|genetic diseases, X linked|X-linked genetic disease|diseases, X-linked genetic|X-linked genetic diseases|X-linked inherited disorder	http://purl.obolibrary.org/obo/MONDO_0000425	http://identifiers.org/snomedct/128430005|UMLS:C2828000|DOID:0050735|http://identifiers.org/mesh/D040181|UMLS:C1138434|NCIT:C85865	
NCBITaxon:63417	biolink:OrganismalEntity	Trichophyton verrucosum		GC_ID:1	mondo.json	Ectotrichophyton verrucosum|Favotrichophyton verrucosum	http://purl.obolibrary.org/obo/NCBITaxon_63417		
MONDO:0000424	biolink:Disease	inborn vitamin B12 deficiency	Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement.	EFO:0000734|DOID:0050731	mondo.json	hypocobalaminemia|rare inborn error of cobalamin metabolic process|inborn vitamin B12 deficiency (disease)|inborn cobalamin metabolic process disorder|inborn error of cobalamin metabolic process|cobalamin deficiency	http://purl.obolibrary.org/obo/MONDO_0000424	DOID:0050731	
HGNC:21478	biolink:NamedThing	RFX6			mondo.json		http://identifiers.org/hgnc/21478		
NCBITaxon:63419	biolink:OrganismalEntity	Trichophyton concentricum		GC_ID:1	mondo.json	Oospora concentrica|Aspergillus concentricum|Mycoderma concentricum|Lepidophyton concentricum|Achorion concentricum|Endodermophyton concentricum	http://purl.obolibrary.org/obo/NCBITaxon_63419		
MONDO:0000423	biolink:Disease	obsolete coenzyme Q10 deficiency disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000423		
MONDO:0000422	biolink:Disease	obsolete inborn glycogen metabolism disorder			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000422		
GO:0110165	biolink:NamedThing	cellular anatomical entity	A part of a cellular organism that is either an immaterial entity or a material entity with granularity above the level of a protein complex but below that of an anatomical system. Or, a substance produced by a cellular organism with granularity above the level of a protein complex.		mondo.json		http://purl.obolibrary.org/obo/GO_0110165		
MONDO:0000418	biolink:Disease	obsolete Ohtahara syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000418		
MONDO:0000417	biolink:Disease	early onset absence epilepsy	A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years.	DOID:0050708	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000417	DOID:0050708	
MONDO:0000416	biolink:Disease	obsolete variable age at onset electroclinical syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000416		
MONDO:0000415	biolink:Disease	adolescence-adult electroclinical syndrome	An electroclinical syndrome with onset in adolescence and adulthood.	DOID:0050705	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000415	DOID:0050705	
MONDO:0000419	biolink:Disease	obsolete 3-Methylcrotonyl-CoA carboxylase deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000419		
MONDO:0000476	biolink:Disease	generalized dystonia		ICD9:333.89|SCTID:425492002|MESH:D004422|ICD9:333.8|ICD9:333.6|DOID:0050835	mondo.json	symptomatic torsion dystonia|torsion disease of childhood|dystonias, Idiopathic torsion|torsion dystonia, Idiopathic|spasm, Progressive torsion|Progressive torsion spasm|Idiopathic torsion dystonias|idiopathic torsion dystonia|dystonias, torsion|Idiopathic torsion dystonia|childhood torsion disease|dystonia 12|Oppenheim Ziehen disease|dystonia deformans progressiva|dystonia, Idiopathic torsion|torsion spasm, Progressive|torsion disease, childhood|dystonia deformans musculorum|torsion dystonia|Oppenheim-Ziehen disease|idiopathic non-familial dystonia|idiopathic familial dystonia|dystonia musculorum deformans|familial dystonia|fragments of torsion dystonia	http://purl.obolibrary.org/obo/MONDO_0000476	DOID:0050835|http://identifiers.org/mesh/D004422|http://identifiers.org/snomedct/425492002	
MONDO:0000475	biolink:Disease	obsolete pyrimidine metabolic disorder			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000475		
MONDO:0000474	biolink:Disease	pericardium disorder	A disease involving the pericardium.	DOID:0050829|ICD9:423.8|ICD9:423.9|SCTID:55855009|UMLS:C0265122	mondo.json	disease of pericardium|pericardium disease or disorder|disorder of pericardium|pericardium disease|disease or disorder of pericardium	http://purl.obolibrary.org/obo/MONDO_0000474	DOID:0050829|http://identifiers.org/snomedct/55855009|UMLS:C0265122	
MONDO:0000473	biolink:Disease	arterial disorder	An impairment of the structure or function of the blood vessels which carry blood away from the heart.	UMLS:C0852949|DOID:0050828|NCIT:C35317|ICD9:447.9|ICD9:447.8|SCTID:359557001	mondo.json	disease of artery|disease or disorder of artery|artery disease|arterial disease|arteriopathy|artery disease or disorder|disorder of artery|arterial disorder	http://purl.obolibrary.org/obo/MONDO_0000473	UMLS:C0852949|NCIT:C35317|http://identifiers.org/snomedct/359557001|DOID:0050828	
MONDO:0000479	biolink:Disease	segmental dystonia	A dystonia that affects two or more adjacent parts of the body.	UMLS:C1997740|ICD9:333.89|DOID:0050838|SCTID:427945008	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000479	http://identifiers.org/snomedct/427945008|DOID:0050838|UMLS:C1997740	
MONDO:0000478	biolink:Disease	multifocal dystonia	A dystonia that involves two or more unrelated body parts.	DOID:0050837	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000478	DOID:0050837	
MONDO:0000477	biolink:Disease	focal dystonia	A dystonia that is localized to a specific part of the body.	UMLS:C0743332|DOID:0050836|SCTID:445006008	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000477	DOID:0050836|UMLS:C0743332|http://identifiers.org/snomedct/445006008	
UBERON:0035881	biolink:AnatomicalEntity	ethmoidomaxillary suture			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035881		
HP:0001888	biolink:PhenotypicFeature	Lymphopenia	A reduced number of lymphocytes in the blood.	UMLS:C0024312|SNOMEDCT_US:48813009|MSH:D008231	mondo.json	Lymphocytopenia|Absolute lymphocyte count decrease|Decreased blood lymphocyte number|Low lymphocyte number	http://purl.obolibrary.org/obo/HP_0001888		
HP:0001889	biolink:PhenotypicFeature	Megaloblastic anemia	Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).	MSH:D000749|SNOMEDCT_US:53165003|UMLS:C0002888	mondo.json	Megaloblastic anaemia	http://purl.obolibrary.org/obo/HP_0001889		
MONDO:0000472	biolink:Disease	obsolete rheumatic heart disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000472		
MONDO:0000471	biolink:Disease	tricuspid valve disorder	A disease involving the tricuspid valve.	NCIT:C78649|DOID:0050826|UMLS:C0264776|UMLS:C0264882|SCTID:20721001|ICD9:397.0	mondo.json	tricuspid valve disorder|disease of tricuspid valve|disorder of tricuspid valve|rheumatic disease of tricuspid valve|tricuspid disease|tricuspid valve disease|RH. tricuspid valve disease|disease or disorder of tricuspid valve|rheumatic tricuspid valve disease|tricuspid valve disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000471	UMLS:C0264882|http://identifiers.org/snomedct/20721001|NCIT:C78649|DOID:0050826|UMLS:C0264776	
UBERON:0035884	biolink:AnatomicalEntity	maxillary-premaxillary suture			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035884		
MONDO:0000470	biolink:Disease	endocardium disorder	A disease involving the endocardium.	UMLS:C0854140|DOID:0050825|SCTID:123596001	mondo.json	endocardial disease|disease or disorder of endocardium|disease of endocardium|endocardiopathy|endocardium disease or disorder|disorder of endocardium|endocardium disease	http://purl.obolibrary.org/obo/MONDO_0000470	http://identifiers.org/snomedct/123596001|UMLS:C0854140|DOID:0050825	
HP:0001882	biolink:PhenotypicFeature	Leukopenia	An abnormal decreased number of leukocytes in the blood.	MSH:D007970|SNOMEDCT_US:84828003|UMLS:C0023530	mondo.json	Low white blood cell count|Decreased blood leukocyte number	http://purl.obolibrary.org/obo/HP_0001882		
MONDO:0012465	biolink:Disease	hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.	UMLS:C4510605|GARD:0009965|OMIM:610293|SCTID:724344004|Orphanet:83639|UMLS:C1853205	mondo.json	glycosylphosphatidylinositol deficiency|PIGM-CDG|GPID|GPI deficiency|congenital disorder of glycosylation due to PIGM deficiency|glycosylphosphatidylinositol biosynthesis defect 1	http://purl.obolibrary.org/obo/MONDO_0012465	Orphanet:83639|UMLS:C1853205|http://identifiers.org/snomedct/724344004|UMLS:C4510605|https://omim.org/entry/610293	ordo_disease|gard_rare
MONDO:0012466	biolink:Disease	Parkinson disease 13, autosomal dominant, susceptibility to	Any young-onset Parkinson disease in which the cause of the disease is a mutation in the HTRA2 gene.	OMIM:610297|MESH:C565204	mondo.json	Parkinson disease 13|young-onset Parkinson disease caused by mutation in HTRA2|Parkinson disease 13, autosomal dominant, susceptibility to|susceptibility to autosomal dominant Parkinson disease 13|PARK13|HTRA2 young-onset Parkinson disease	http://purl.obolibrary.org/obo/MONDO_0012466	https://omim.org/entry/610297|http://identifiers.org/mesh/C565204	predisposition
HP:0001883	biolink:PhenotypicFeature	Talipes	A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.	SNOMEDCT_US:398309008|MSH:D000070558|UMLS:C1301937|UMLS:C3552713	mondo.json	Talipes foot deformities	http://purl.obolibrary.org/obo/HP_0001883		
MONDO:0012463	biolink:Disease	retinitis pigmentosa 35	Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene.	DOID:0110357|ICD10CM:H35.5|OMIM:610282|MESH:C565206|GARD:0010402|UMLS:C1853214	mondo.json	RP35|retinitis pigmentosa 35|RP 35|retinitis pigmentosa caused by mutation in SEMA4A|retinitis pigmentosa type 35|SEMA4A retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0012463	UMLS:C1853214|https://omim.org/entry/610282|http://identifiers.org/mesh/C565206|DOID:0110357	gard_rare
HP:0001880	biolink:PhenotypicFeature	Eosinophilia	Increased count of eosinophils in the blood.	MSH:D004802|UMLS:C0014457	mondo.json	High blood eosinophil count	http://purl.obolibrary.org/obo/HP_0001880		
MONDO:0012464	biolink:Disease	cone-rod dystrophy 10	Any cone-rod dystrophy in which the cause of the disease is a mutation in the SEMA4A gene.	OMIM:610283|DOID:0111017|UMLS:C1846529|MESH:C564597	mondo.json	CORD10|SEMA4A cone-rod dystrophy|cone-rod dystrophy type 10|cone-rod dystrophy 10|cone-rod dystrophy caused by mutation in SEMA4A	http://purl.obolibrary.org/obo/MONDO_0012464	http://identifiers.org/mesh/C564597|UMLS:C1846529|https://omim.org/entry/610283|DOID:0111017	
HP:0001881	biolink:PhenotypicFeature	Abnormal leukocyte morphology	An abnormality of leukocytes.	UMLS:C0152009|SNOMEDCT_US:24827003|SNOMEDCT_US:134199001	mondo.json	Abnormality of leukocytes	http://purl.obolibrary.org/obo/HP_0001881		
MONDO:0012469	biolink:Disease	myopia 14		OMIM:610320|UMLS:C1853196|MESH:C565202	mondo.json	myopia 14|MYP14	http://purl.obolibrary.org/obo/MONDO_0012469	UMLS:C1853196|https://omim.org/entry/610320|http://identifiers.org/mesh/C565202	
MONDO:0012467	biolink:Disease	cold-induced sweating syndrome 2	Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the CLCF1 gene.	DOID:0080330|MESH:C564791|OMIM:610313|UMLS:C1853198	mondo.json	CLCF1 cold-induced sweating syndrome|cold-induced sweating syndrome 2|CRISPONI/cold-induced sweating syndrome 2|Crisponi/cold-induced sweating syndrome 2|CISS2|cold-induced sweating syndrome type 2|cold-induced sweating syndrome caused by mutation in CLCF1	http://purl.obolibrary.org/obo/MONDO_0012467	UMLS:C1853198|http://identifiers.org/mesh/C564791|https://omim.org/entry/610313|DOID:0080330	
MONDO:0012468	biolink:Disease	rhizomelic dysplasia, scoliosis, and retinitis pigmentosa		GARD:0009968|MESH:C537610|UMLS:C1853197|OMIM:610319	mondo.json	rhizomelic dysplasia, scoliosis, and retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0012468	UMLS:C1853197|https://omim.org/entry/610319|http://identifiers.org/mesh/C537610	gard_rare
ENVO:01001164	biolink:NamedThing	geodiversity	A quality which inheres in a astronomical body or astronomical body part by virtue of the variation in its material composition, participation in geological processes, and the variation in is land- and hydroforms.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001164		
MONDO:0012461	biolink:Disease	obsolete bulimia nervosa, susceptibility to, 2		OMIM:610269	mondo.json		http://purl.obolibrary.org/obo/MONDO_0012461	https://omim.org/entry/610269	
MONDO:0012462	biolink:Disease	autosomal recessive frontotemporal pachygyria		UMLS:C1853215|OMIM:610279|GARD:0010003|MESH:C538092|Orphanet:329329	mondo.json	pachygyria, frontotemporal	http://purl.obolibrary.org/obo/MONDO_0012462	UMLS:C1853215|http://identifiers.org/mesh/C538092|https://omim.org/entry/610279|Orphanet:329329	ordo_malformation_syndrome
MONDO:0012460	biolink:Disease	autosomal recessive nonsyndromic hearing loss 67	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene.	UMLS:C1853223|MESH:C565207|OMIM:610265|DOID:0110518	mondo.json	autosomal recessive nonsyndromic deafness 67|DFNB67|autosomal recessive deafness 67|deafness, autosomal recessive 67|autosomal recessive nonsyndromic deafness caused by mutation in LHFPL5|autosomal recessive nonsyndromic deafness type 67|deafness, autosomal recessive type 67|LHFPL5 autosomal recessive nonsyndromic deafness	http://purl.obolibrary.org/obo/MONDO_0012460	UMLS:C1853223|https://omim.org/entry/610265|http://identifiers.org/mesh/C565207|DOID:0110518	clingen
MONDO:0000487	biolink:Disease	hemidystonia	A multifocal dystonia that involves the arm and leg on the same side of the body.	ICD9:333.99|SCTID:427232004|DOID:0050846|UMLS:C1960561	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000487	http://identifiers.org/snomedct/427232004|UMLS:C1960561|DOID:0050846	
MONDO:0024432	biolink:Disease	nerve plexus disorder	A disease that involves the nerve plexus.	UMLS:C1335437|NCIT:C27744|SCTID:2231001|DOID:3688	mondo.json	nerve plexus disorder|nerve plexus disease or disorder|disorder of nerve plexus|disease of nerve plexus|disease or disorder of nerve plexus|nerve plexus disease|plexopathy	http://purl.obolibrary.org/obo/MONDO_0024432	DOID:3688|NCIT:C27744|UMLS:C1335437|http://identifiers.org/snomedct/2231001	
MONDO:0000486	biolink:Disease	craniofacial dystonia	A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.	UMLS:C4023011|DOID:0050845|GARD:0010667	mondo.json	cranio-facial dystonia	http://purl.obolibrary.org/obo/MONDO_0000486	UMLS:C4023011|DOID:0050845	gard_rare
MONDO:0024431	biolink:Disease	bilirubin metabolism disease		SCTID:80006005	mondo.json	disorder of bilirubin metabolism	http://purl.obolibrary.org/obo/MONDO_0024431	http://identifiers.org/snomedct/80006005	
MONDO:0000485	biolink:Disease	spasmodic dystonia	A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx.	ICD9:478.79|UMLS:C1963946|DOID:0050844|Orphanet:93961|MESH:D055154|SCTID:3331000119108|GARD:0007668	mondo.json	mixed spasmodic dysphonia (type)|laryngeal dyskinesia|spastic dysphonia|spasmodic dysphonia|adductor spasmodic dysphonia|laryngeal dystonia|abductor spasmodic dysphonia	http://purl.obolibrary.org/obo/MONDO_0000485	http://identifiers.org/snomedct/3331000119108|Orphanet:93961|http://identifiers.org/mesh/D055154|DOID:0050844|UMLS:C1963946	
MONDO:0000484	biolink:Disease	obsolete oromandibular dystonia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000484		
MONDO:0000489	biolink:Disease	diabetic encephalopathy	A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes.	DOID:0050850	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000489	DOID:0050850	
MONDO:0000488	biolink:Disease	periampullary adenoma	A adenoma that involves the periampullary region of duodenum.	DOID:0050849|UMLS:CN068444	mondo.json	periampullary region of duodenum adenoma	http://purl.obolibrary.org/obo/MONDO_0000488	DOID:0050849|UMLS:CN068444	
MONDO:0012449	biolink:Disease	spinocerebellar ataxia type 23	Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.	OMIM:610245|UMLS:C4305146|DOID:0050973|Orphanet:101108|UMLS:C1853250|SCTID:718772002|MESH:C537201|GARD:0009950	mondo.json	spinocerebellar ataxia type 23|spinocerebellar ataxia 23|SCA23	http://purl.obolibrary.org/obo/MONDO_0012449	http://identifiers.org/mesh/C537201|http://identifiers.org/snomedct/718772002|DOID:0050973|UMLS:C1853250|Orphanet:101108|https://omim.org/entry/610245	ordo_disease
MONDO:0000483	biolink:Disease	oculogyric crisis	A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes.	DOID:0050842	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000483	DOID:0050842	
MONDO:0000482	biolink:Disease	focal hand dystonia	A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.	SCTID:52008007|ICD9:333.84|DOID:0050841|UMLS:C0154676	mondo.json	hand and arm dystonia|organic writer's cramp|writer's cramp	http://purl.obolibrary.org/obo/MONDO_0000482	UMLS:C0154676|http://identifiers.org/snomedct/52008007|DOID:0050841	
MONDO:0000481	biolink:Disease	cervical dystonia	Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery.	GARD:0010668|ICD9:333.83|Orphanet:93962|SCTID:74333002|NCIT:C85072|DOID:0050840	mondo.json	spasmodic torticollis	http://purl.obolibrary.org/obo/MONDO_0000481	Orphanet:93962|http://identifiers.org/snomedct/74333002|DOID:0050840|NCIT:C85072	gard_rare
MONDO:0024430	biolink:Disease	allesthesia	A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus.	MESH:D066190	mondo.json	Dyschirias|allochiria|false allochiria|Alloesthesias|Allachesthesia|Allesthesias|Allachesthesias|Alloesthesia|dyschiria	http://purl.obolibrary.org/obo/MONDO_0024430	http://identifiers.org/mesh/D066190	
MONDO:0000480	biolink:Disease	anismus	A focal dystonia of the pelvic floor muscles during attempted defecation.	DOID:0050839|UMLS:C0267601|SCTID:83605009|ICD9:569.49	mondo.json	spastic pelvic floor syndrome|dyssynergic defecation|focal dystonia of anal region skeletal muscle|anal region skeletal muscle focal dystonia|puborectalis syndrome|sphincteric disobedience syndrome|rectosphincteric dyssynergia|dyskinetic puborectalis	http://purl.obolibrary.org/obo/MONDO_0000480	UMLS:C0267601|http://identifiers.org/snomedct/83605009|DOID:0050839	
MONDO:0012454	biolink:Disease	alcohol sensitivity, acute	Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate. The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment.	OMIM:610251|GARD:0012634	mondo.json	alcohol intolerance|acute alcohol sensitivity|alcohol sensitivity, acute|Hangover, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0012454	https://omim.org/entry/610251	gard_rare
OBO:HsapDv_0000096	biolink:NamedThing	2-year-old human stage	Child stage that refers to a child who is over 2 and under 3 years old.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000096		
MONDO:0012455	biolink:Disease	Kleefstra syndrome	A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.	DOID:0060352|OMIMPS:610253|GARD:0008672|Orphanet:261494	mondo.json	9q34 deletion syndrome|9Q- syndrome|Kleefstra syndrome|9Q subtelomeric deletion syndrome|chromosome 9q deletion syndrome|9q34.3 microdeletion syndrome|chromosome 9Q34.3 deletion syndrome|9q-syndrome	http://purl.obolibrary.org/obo/MONDO_0012455	DOID:0060352|Orphanet:261494|https://omim.org/phenotypicSeries/PS610253	prototype_pattern|gard_rare|ordo_malformation_syndrome
HP:0001894	biolink:PhenotypicFeature	Thrombocytosis	Increased numbers of platelets in the peripheral blood.	SNOMEDCT_US:6631009|SNOMEDCT_US:415115007|MSH:D013922|UMLS:C0857460|UMLS:C0836924	mondo.json	Increased platelet count|Thrombocythemia|Increased number of platelets in blood|Thrombocythaemia	http://purl.obolibrary.org/obo/HP_0001894		
OBO:HsapDv_0000097	biolink:NamedThing	3-year-old human stage	Child stage that refers to a child who is over 3 and under 4 years old.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000097		
MONDO:0012452	biolink:Disease	autosomal recessive nonsyndromic hearing loss 65	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 20q13.2-q13.3.	MESH:C565211|OMIM:610248|UMLS:C1853248|DOID:0110516	mondo.json	autosomal recessive nonsyndromic deafness type 65|DFNB65|autosomal recessive deafness 65|deafness, autosomal recessive 65|autosomal recessive nonsyndromic deafness 65	http://purl.obolibrary.org/obo/MONDO_0012452	UMLS:C1853248|DOID:0110516|https://omim.org/entry/610248|http://identifiers.org/mesh/C565211	
MONDO:0012453	biolink:Disease	hereditary spastic paraplegia 31	A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.	MESH:C565210|UMLS:C1853247|GARD:0010817|DOID:0110782|SCTID:763068005|Orphanet:101011|OMIM:610250	mondo.json	autosomal dominant spastic paraplegia 31|REEP1 hereditary spastic paraplegia|autosomal dominant spastic paraplegia type 31|SPG31|hereditary spastic paraplegia caused by mutation in REEP1|spastic paraplegia 31, autosomal dominant|spastic paraplegia 31|hereditary spastic paraplegia type 31	http://purl.obolibrary.org/obo/MONDO_0012453	UMLS:C1853247|DOID:0110782|Orphanet:101011|http://identifiers.org/snomedct/763068005|https://omim.org/entry/610250|http://identifiers.org/mesh/C565210	ordo_disease
HP:0001892	biolink:PhenotypicFeature	Abnormal bleeding	An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.	SNOMEDCT_US:64779008|SNOMEDCT_US:248250000|UMLS:C1458140	mondo.json	Bleeding tendency|Hemorrhagic diathesis|Bleeding diathesis	http://purl.obolibrary.org/obo/HP_0001892		
MONDO:0012458	biolink:Disease	hypertension, essential, susceptibility to, 5		OMIM:610261	mondo.json	hypertension, essential, susceptibility to, type 5|Hyt5|hypertension, essential, susceptibility to, 5|hypertension, essential, body Mass-related	http://purl.obolibrary.org/obo/MONDO_0012458	https://omim.org/entry/610261	predisposition
MONDO:0012459	biolink:Disease	hypertension, essential, susceptibility to, 6		OMIM:610262	mondo.json	hypertension, essential, susceptibility to, type 6|Hyt6|hypertension, essential, kidney function-related|hypertension, essential, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0012459	https://omim.org/entry/610262	predisposition
HGNC:33425	biolink:NamedThing	MIAT			mondo.json		http://identifiers.org/hgnc/33425		
MONDO:0012456	biolink:Disease	congenital primary aphakia	Congenital primary aphakia (CPA) is characterised by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents.	ICD9:743.35|OMIM:610256|SCTID:35387008|MESH:C537786|NCIT:C35172|DOID:11367|GARD:0009952|MedDRA:10002947|ICD10CM:Q12.3|Orphanet:83461	mondo.json	congenital aphakia|CPA|ASGD2|aphakia, congenital primary|congenital absence of lens|anterior segment dysgenesis 2|anterior segment dysgenesis 2, multiple subtypes	http://purl.obolibrary.org/obo/MONDO_0012456	http://identifiers.org/mesh/C537786|Orphanet:83461|http://purl.bioontology.org/ontology/ICD10CM/Q12.3|DOID:11367|https://omim.org/entry/610256|NCIT:C35172|http://identifiers.org/snomedct/35387008	ordo_malformation_syndrome
OBO:HsapDv_0000098	biolink:NamedThing	4-year-old human stage	Child stage that refers to a child who is over 4 and under 5 years old.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000098		
MONDO:0012457	biolink:Disease	pyloric stenosis, infantile hypertrophic, 2		OMIM:610260|MESH:C565208|UMLS:C1853228	mondo.json	IHPS2|pyloric stenosis, infantile hypertrophic, 2	http://purl.obolibrary.org/obo/MONDO_0012457	http://identifiers.org/mesh/C565208|UMLS:C1853228|https://omim.org/entry/610260	
OBO:HsapDv_0000099	biolink:NamedThing	5-year-old human stage	Child stage that refers to a child who is over 5 and under 6 years old.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000099		
MONDO:0024429	biolink:Disease	Alice in Wonderland syndrome	A disorienting neuropsychological condition that affects perception. People experience size distortion such as micropsia, macropsia, pelopsia, or teleopsia. Size distortion may occur of other sensory modalities.	NCIT:C116362|MESH:D062026	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024429	NCIT:C116362|http://identifiers.org/mesh/D062026	
ENVO:01001154	biolink:NamedThing	volatile astrogeological material	A material which is composed primarily of chemical elements and compounds with relatively low boiling points, equilibrium condensation temperatures below 1300 Kelvin, and which are part of the crust or atmosphere of a moon or planet.		mondo.json	volatile	http://purl.obolibrary.org/obo/ENVO_01001154		
ENVO:01001155	biolink:NamedThing	astrogeological gas	An astrogeological volatile which is composed primarily of chemical compounds with boiling points around those of hydrogen and helium.		mondo.json	gas	http://purl.obolibrary.org/obo/ENVO_01001155		
MONDO:0012450	biolink:Disease	spinocerebellar ataxia type 28	Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.	OMIM:610246|GARD:0009951|SCTID:715824008|UMLS:C1853249|DOID:0050977|UMLS:C4274988|Orphanet:101109|MESH:C537205	mondo.json	spinocerebellar ataxia 28|SCA28|spinocerebellar ataxia type 28	http://purl.obolibrary.org/obo/MONDO_0012450	DOID:0050977|UMLS:C1853249|Orphanet:101109|http://identifiers.org/snomedct/715824008|https://omim.org/entry/610246|http://identifiers.org/mesh/C537205	ordo_disease
OBO:HsapDv_0000092	biolink:NamedThing	human middle aged stage	Late adulthood that refers to an adult who is over 45 and under 65.		mondo.json	45-64 years	http://purl.obolibrary.org/obo/HsapDv_0000092		
MONDO:0012451	biolink:Disease	esophagitis, eosinophilic, 1		OMIM:610247	mondo.json	EOE1|esophagitis, eosinophilic, 1|esophagitis, eosinophilic	http://purl.obolibrary.org/obo/MONDO_0012451	https://omim.org/entry/610247	
OBO:HsapDv_0000090	biolink:NamedThing	25-44 year-old human stage	Early adulthood that refers to an adult who is over 25 and under 45.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000090		
OBO:HsapDv_0000091	biolink:NamedThing	human late adulthood stage	Adult stage that refers to an adult who is over 45.		mondo.json	Middle Aged + Aged|45+ years	http://purl.obolibrary.org/obo/HsapDv_0000091		
MONDO:0024421	biolink:Disease	short stature contractures hypotonia		GARD:0004839	mondo.json	Hennekam Koss de Geest syndrome	http://purl.obolibrary.org/obo/MONDO_0024421		gard_rare
MONDO:0000454	biolink:Disease	obsolete multiple synostoses syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000454		
MONDO:0000453	biolink:Disease	short QT syndrome	A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified	NCIT:C71060|SCTID:698272007|MESH:C580439|DOID:0050793|Orphanet:51083|ICD9:426.89|UMLS:C2348199|OMIMPS:609620	mondo.json	familial short QT syndrome|short QT syndrome|ventricular arrhythmia associated with short QT syndrome	http://purl.obolibrary.org/obo/MONDO_0000453	DOID:0050793|http://identifiers.org/mesh/C580439|NCIT:C71060|UMLS:C2348199|Orphanet:51083|https://omim.org/phenotypicSeries/PS609620|http://identifiers.org/snomedct/698272007	prototype_pattern|ordo_disease
MONDO:0000452	biolink:Disease	progressive relapsing multiple sclerosis	A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset.	DOID:0050785|UMLS:C0393666|SCTID:230374002	mondo.json	progressive-relapsing MS|PRMS	http://purl.obolibrary.org/obo/MONDO_0000452	DOID:0050785|http://identifiers.org/snomedct/230374002|UMLS:C0393666	
MONDO:0024422	biolink:Disease	auditory perceptual disorders	Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech.	SCTID:229752008|MESH:D001308|NCIT:C84575|UMLS:C0751257	mondo.json	auditory processing disorders|comprehension disorder, auditory|perceptual disorder, acoustic|Inattentions, auditory|disorders, Psychoacoustical|inattention, auditory|auditory processing disorder|perceptual disorders, acoustic|disorders, auditory comprehension|comprehension disorders, auditory|acoustic perceptual disorder|disorder, Psychoacoustical|disorder, acoustic perceptual|processing disorders, auditory|Psychoacoustical disorders|sensory perception of sound disease|auditory inattention|disorder, auditory processing|disorders, acoustic perceptual|disorder, auditory comprehension|perceptual disorder, auditory|auditory comprehension disorders|auditory comprehension disorder|disorders, auditory processing|perceptual disorders, auditory|disorder of sensory perception of sound|auditory Inattentions|auditory perceptual disorder|Psychoacoustical disorder|acoustic perceptual disorders|processing disorder, auditory	http://purl.obolibrary.org/obo/MONDO_0024422	http://identifiers.org/snomedct/229752008|UMLS:C0751257|NCIT:C84575|http://identifiers.org/mesh/D001308	
MONDO:0000451	biolink:Disease	primary progressive multiple sclerosis	A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.	DOID:0050784|UMLS:C0751964|EFO:0008520|SCTID:428700003	mondo.json	primary-progressive MS|PPMS	http://purl.obolibrary.org/obo/MONDO_0000451	DOID:0050784|UMLS:C0751964|http://identifiers.org/snomedct/428700003	
MONDO:0000458	biolink:Disease	proneural glioblastoma	A molecular subtype of glioblastoma that is associated with younger age at presentation and is characterized by p53 mutations and PDGFRa amplifications.	UMLS:C3828464|NCIT:C111692|DOID:0050804	mondo.json	glioblastoma proneural subtype|proneural glioblastoma	http://purl.obolibrary.org/obo/MONDO_0000458	UMLS:C3828464|DOID:0050804|NCIT:C111692	
GO:0110111	biolink:NamedThing	negative regulation of animal organ morphogenesis	Any process that stops, prevents, or reduces the frequency, rate or extent of animal organ morphogenesis.		mondo.json		http://purl.obolibrary.org/obo/GO_0110111		
HGNC:21424	biolink:NamedThing	IFT74			mondo.json		http://identifiers.org/hgnc/21424		
MONDO:0000457	biolink:Disease	classical glioblastoma	A molecular subtype of glioblastoma characterized by lack of p53 mutations, chromosome 7 amplifications or deletions, and high levels of EGFR amplification.	NCIT:C111694|UMLS:C3827253|DOID:0050803	mondo.json	classical glioblastoma|glioblastoma classical subtype	http://purl.obolibrary.org/obo/MONDO_0000457	UMLS:C3827253|DOID:0050803|NCIT:C111694	
MONDO:0000456	biolink:Disease	cerebral creatine deficiency syndrome	Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.	DOID:0050798|Orphanet:79172|UMLS:CN227588|OMIMPS:300352	mondo.json	CDS|CCDS|creatine deficiency syndrome|cerebral creatine deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0000456	Orphanet:79172|DOID:0050798|https://omim.org/phenotypicSeries/PS300352|UMLS:CN227588	disease_grouping|ordo_group_of_disorders
MONDO:0000455	biolink:Disease	cone dystrophy	An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.	GARD:0011897|Orphanet:1871|ICD9:362.75|DOID:0050795|SCTID:312917007|UMLS:C0730290|MESH:D000077765|OMIM:300085	mondo.json	cone dystrophy|progressive cone dystrophy|retinal cone dystrophy|stationary cone dystrophy	http://purl.obolibrary.org/obo/MONDO_0000455	Orphanet:1871|DOID:0050795|http://identifiers.org/mesh/D000077765|UMLS:C0730290|http://identifiers.org/snomedct/312917007	ordo_disease
GO:0110110	biolink:NamedThing	positive regulation of animal organ morphogenesis	Any process that activates or increases the frequency, rate or extent of animal organ morphogenesis.		mondo.json		http://purl.obolibrary.org/obo/GO_0110110		
MONDO:0012438	biolink:Disease	pontocerebellar hypoplasia type 5	Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.	OMIM:610204|UMLS:C1857762|SCTID:718607001|MESH:C537745|GARD:0010709|DOID:0060274|Orphanet:166068	mondo.json	pontocerebellar hypoplasia, type 5|olivopontocerebellar hypoplasia, fetal-onset|fetal-onset olivopontocerebellar hypoplasia|PCH5|olivopontocerebellar hypoplasia fetal-onset	http://purl.obolibrary.org/obo/MONDO_0012438	https://omim.org/entry/610204|UMLS:C1857762|http://identifiers.org/snomedct/718607001|http://identifiers.org/mesh/C537745|DOID:0060274|Orphanet:166068	gard_rare|ordo_malformation_syndrome
MONDO:0012439	biolink:Disease	Alagille syndrome due to a NOTCH2 point mutation		OMIM:610205|Orphanet:261629|UMLS:C1857761	mondo.json	Alagille syndrome 2|Alagille syndrome type 2|Alagille syndrome due to a NOTCH2 point mutation|Alagille-Watson syndrome due to a NOTCH2 point mutation|Arteriohepatic dysplasia due to a NOTCH2 point mutation|syndromic bile duct paucity due to a NOTCH2 point mutation|ALGS2	http://purl.obolibrary.org/obo/MONDO_0012439	https://omim.org/entry/610205|Orphanet:261629|UMLS:C1857761	ordo_etiological_subtype
MONDO:0000450	biolink:Disease	secondary progressive multiple sclerosis	A multiple sclerosis with a clinical course characterized by a progressive accumulation of neurological disability, independent of relapses, following an initial relapsing-remitting (RR) phase.	DOID:0050783|EFO:0008522|UMLS:C0751965|SCTID:425500002	mondo.json	secondary-progressive MS|SPMS	http://purl.obolibrary.org/obo/MONDO_0000450	DOID:0050783|UMLS:C0751965|http://identifiers.org/snomedct/425500002	
OBO:HsapDv_0000085	biolink:NamedThing	6-12 year-old child stage	Child stage that refers to a child who is over 6 and under 13 years old.		mondo.json	prepubescent	http://purl.obolibrary.org/obo/HsapDv_0000085		
MONDO:0012443	biolink:Disease	aneurysm, intracranial berry, 4		UMLS:C1857749|MESH:C565700|OMIM:610213	mondo.json	aneurysm, intracranial BERRY, 4|ANIB4	http://purl.obolibrary.org/obo/MONDO_0012443	http://identifiers.org/mesh/C565700|https://omim.org/entry/610213|UMLS:C1857749	
OBO:HsapDv_0000086	biolink:NamedThing	adolescent stage	Mature stage that refers to an adolescent who is over 13 and under 19 years old.		mondo.json	13-18 years|teenager|teen	http://purl.obolibrary.org/obo/HsapDv_0000086		
MONDO:0012444	biolink:Disease	neurodegeneration with brain iron accumulation 2B		DOID:0110736|GARD:0010688|OMIM:610217	mondo.json	neurodegeneration with brain iron accumulation type 2b|neurodegeneration with brain iron accumulation, Pla2g6-related|Karak syndrome|atypical neuroaxonal dystrophy|neurodegeneration with brain iron accumulation 2B|NBIA2B|NBIA2b|neurodegeneration with brain iron accumulation type 2B|neurodegeneration with brain iron accumulation, Pla2G6-related|early-onset progressive cerebellar ataxia dystonia spasticity and intellectual decline|neuroaxonal dystrophy, atypical	http://purl.obolibrary.org/obo/MONDO_0012444	DOID:0110736|https://omim.org/entry/610217	
OBO:HsapDv_0000083	biolink:NamedThing	infant stage	Immature stage that refers to an infant who is over 31 days and is under 24 months old.		mondo.json	1-23 months|infantile stage	http://purl.obolibrary.org/obo/HsapDv_0000083		
MONDO:0012441	biolink:Disease	migraine with or without aura, susceptibility to, 11		OMIM:610209	mondo.json	migraine with or without aura, susceptibility to, 11|Mgr11|migraine with or without aura, susceptibility to, type 11	http://purl.obolibrary.org/obo/MONDO_0012441	https://omim.org/entry/610209	predisposition
MONDO:0012442	biolink:Disease	autosomal recessive nonsyndromic hearing loss 66	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene.	OMIM:610212|MESH:C565701|UMLS:C1857750|DOID:0110517	mondo.json	autosomal recessive nonsyndromic deafness type 66|autosomal recessive nonsyndromic deafness caused by mutation in DCDC2|deafness, autosomal recessive type 66|autosomal recessive nonsyndromic deafness 66|DFNB66|autosomal recessive deafness 66|DCDC2 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 66	http://purl.obolibrary.org/obo/MONDO_0012442	http://identifiers.org/mesh/C565701|DOID:0110517|https://omim.org/entry/610212|UMLS:C1857750	
OBO:HsapDv_0000084	biolink:NamedThing	2-5 year-old child stage	Child stage that refers to a child who is over 24 months and under 6 years old.		mondo.json	preschool child	http://purl.obolibrary.org/obo/HsapDv_0000084		
MONDO:0012447	biolink:Disease	synpolydactyly type 3		OMIM:610234|UMLS:C1853255|Orphanet:295199|MESH:C565216	mondo.json	SD2, Malik type|SD2c|SPD3|synpolydactyly 3|SPD, Malik type|synpolydactyly, Malik type	http://purl.obolibrary.org/obo/MONDO_0012447	http://identifiers.org/mesh/C565216|Orphanet:295199|UMLS:C1853255|https://omim.org/entry/610234	ordo_clinical_subtype
OBO:HsapDv_0000089	biolink:NamedThing	young adult stage	Early adulthood that refers to an adult who is under 25.		mondo.json	19-24 years	http://purl.obolibrary.org/obo/HsapDv_0000089		
MONDO:0012448	biolink:Disease	hereditary spastic paraplegia 33	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene.	MESH:C565214|OMIM:610244|DOID:0110784|UMLS:C1853251	mondo.json	spastic paraplegia 33, autosomal dominant|hereditary spastic paraplegia type 33|autosomal dominant spastic paraplegia 33|SPG33|ZFYVE27 hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in ZFYVE27	http://purl.obolibrary.org/obo/MONDO_0012448	http://identifiers.org/mesh/C565214|DOID:0110784|UMLS:C1853251|https://omim.org/entry/610244	
MONDO:0012445	biolink:Disease	autosomal recessive nonsyndromic hearing loss 59	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK gene.	MESH:C565698|OMIM:610220|DOID:0110511|UMLS:C1857744	mondo.json	deafness, autosomal recessive type 59|DFNB59|autosomal recessive nonsyndromic deafness caused by mutation in PJVK|autosomal recessive deafness 59|autosomal recessive nonsyndromic deafness 59|autosomal recessive nonsyndromic deafness type 59|PJVK autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 59	http://purl.obolibrary.org/obo/MONDO_0012445	UMLS:C1857744|http://identifiers.org/mesh/C565698|DOID:0110511|https://omim.org/entry/610220	
OBO:HsapDv_0000087	biolink:NamedThing	human adult stage	Human developmental stage that refers to an adult who is over 19.		mondo.json	19+ years	http://purl.obolibrary.org/obo/HsapDv_0000087		
OBO:HsapDv_0000088	biolink:NamedThing	human early adulthood stage	Adult stage that refers to an adult who is under 45.		mondo.json	19-44 years	http://purl.obolibrary.org/obo/HsapDv_0000088		
MONDO:0012446	biolink:Disease	seborrhea-like dermatitis with psoriasiform elements		UMLS:C1853258|Orphanet:168606|OMIM:610227|MESH:C565217	mondo.json	seborrhea-like dermatitis with psoriasiform elements	http://purl.obolibrary.org/obo/MONDO_0012446	http://identifiers.org/mesh/C565217|UMLS:C1853258|Orphanet:168606|https://omim.org/entry/610227	ordo_disease
MONDO:0024418	biolink:Disease	muscular fibrosis multifocal obstructed vessels		Orphanet:2033|GARD:0003857	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024418	Orphanet:2033	gard_rare
MONDO:0024417	biolink:Disease	perceptual disorders	Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body.	MESH:D010468	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024417	http://identifiers.org/mesh/D010468	
MONDO:0000449	biolink:Disease	obsolete Opitz-GBBB syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000449		
MONDO:0024419	biolink:Disease	enthesitis	Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone.	SCTID:359643005|NCIT:C114470|UMLS:C1282952	mondo.json	inflammatory enthesopathy|enthesitis|inflammation of enthesis|enthesis inflammation	http://purl.obolibrary.org/obo/MONDO_0024419	UMLS:C1282952|NCIT:C114470|http://identifiers.org/snomedct/359643005	
MONDO:0000448	biolink:Disease	paraganglioma	A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases.	EFO:1000453|NCIT:C3308|OMIMPS:168000|DOID:0050773|ICDO:8680/1|SCTID:127027008|ICD9:239.7|ONCOTREE:PGNG|MESH:D010235|UMLS:C0030421	mondo.json	paraganglioma|chemodectoma|paragangliomas|neoplasm of paraganglion|neoplasm of the paraganglion|Paraganglionic neoplasm|paraganglion tumor|paraganglion neoplasm|Paraganglionic tumor|tumor of paraganglion|tumor of the paraganglion	http://purl.obolibrary.org/obo/MONDO_0000448	UMLS:C0030421|http://identifiers.org/snomedct/127027008|DOID:0050773|http://identifiers.org/mesh/D010235|https://omim.org/phenotypicSeries/PS168000|NCIT:C3308	
OBO:HsapDv_0000081	biolink:NamedThing	child stage	Immature stage that refers to child who is over 2 and under 13 years old.		mondo.json	2-12 years	http://purl.obolibrary.org/obo/HsapDv_0000081		
OBO:HsapDv_0000082	biolink:NamedThing	newborn human stage	Immature stage that refers to a newborn who is under 32 days old.		mondo.json	neonate|0-1 month|neonatal stage	http://purl.obolibrary.org/obo/HsapDv_0000082		
MONDO:0012440	biolink:Disease	migraine with or without aura, susceptibility to, 10		OMIM:610208	mondo.json	migraine with or without aura, susceptibility to, 10|migraine with pulsation|Mgr10|migraine with or without aura, susceptibility to, type 10	http://purl.obolibrary.org/obo/MONDO_0012440	https://omim.org/entry/610208	predisposition
OBO:HsapDv_0000080	biolink:NamedThing	immature stage	Human developmental stage that covers the period from birth until 12 years old.		mondo.json	0-12 years|child	http://purl.obolibrary.org/obo/HsapDv_0000080		
MONDO:0000465	biolink:Disease	atrioventricular block	A heart block that is initiated in the atrioventricular node.	HP:0001678|UMLS:C0004245|ICD9:426.10|MESH:D054537|DOID:0050820|SCTID:233917008	mondo.json	atrioventricular block|atrioventricular block (disease)|AV block|AVB|AV nodal block	http://purl.obolibrary.org/obo/MONDO_0000465	http://identifiers.org/mesh/D054537|DOID:0050820|UMLS:C0004245|http://identifiers.org/snomedct/233917008	
MONDO:0024410	biolink:Disease	infection caused by Bifidobacterium	A disease caused by infection with Bifidobacterium.	SCTID:721759009|UMLS:C1096283	mondo.json	infection caused by Bifidobacterium|Bifidobacterium infection|Bifidobacterium disease or disorder|Bifidobacterium infectious disease|Bifidobacterium caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0024410	UMLS:C1096283|http://identifiers.org/snomedct/721759009	
MONDO:0000464	biolink:Disease	obsolete Stargardt disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000464		
MONDO:0000463	biolink:Disease	Ochoa syndrome	Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.	Orphanet:2704|DOID:0050816|SCTID:236533008|MESH:C536480|GARD:0000104|OMIMPS:236730	mondo.json	UFS|hydronephrosis-inverted smile syndrome|inverted smile and occult neuropathic bladder|partial facial palsy with urinary abnormalities|urofacial syndrome|Ochoa syndrome|urofacial Ochoa's syndrome|inverted smile-neurogenic bladder syndrome|hydronephrosis with peculiar facial expression	http://purl.obolibrary.org/obo/MONDO_0000463	http://identifiers.org/mesh/C536480|DOID:0050816|https://omim.org/phenotypicSeries/PS236730|http://identifiers.org/snomedct/236533008|Orphanet:2704	gard_rare|ordo_malformation_syndrome
MONDO:0024412	biolink:Disease	Peptostreptococcus infectious disease	A disease caused by infection with Peptostreptococcus.	ICD9:041.84|SCTID:135341000119101|UMLS:C1096562	mondo.json	Peptostreptococcus infection|Peptostreptococcus caused disease or disorder|Peptostreptococcus disease or disorder	http://purl.obolibrary.org/obo/MONDO_0024412	http://identifiers.org/snomedct/135341000119101|UMLS:C1096562	
MONDO:0000462	biolink:Disease	eye adnexa disorder	A disease involving the ocular adnexa.	ICD10WHO:H00-H06|Orphanet:519266|DOID:0050815|SCTID:118941004|UMLS:C1290855	mondo.json	disorder of ocular adnexa|ocular adnexa disease|disease or disorder of ocular adnexa|ocular adnexa disease or disorder|disease of ocular adnexa	http://purl.obolibrary.org/obo/MONDO_0000462	https://icd.who.int/browse10/2019/en#/H00-H06|http://identifiers.org/snomedct/118941004|UMLS:C1290855	
MONDO:0000469	biolink:Disease	sinoatrial node disorder	A disease involving the sinoatrial node.	DOID:0050824	mondo.json	sinuatrial node|disease of sinoatrial node|sinoatrial node disease or disorder|disorder of sinoatrial node|sinoatrial node disease|SA node|disease or disorder of sinoatrial node	http://purl.obolibrary.org/obo/MONDO_0000469	DOID:0050824	
MONDO:0024414	biolink:Disease	anaerobic cellulitis		UMLS:C0241828|ICD9:041.84|SCTID:238401006|ICD9:682.9	mondo.json	anaerobic cellulitis	http://purl.obolibrary.org/obo/MONDO_0024414	UMLS:C0241828|http://identifiers.org/snomedct/238401006	
MONDO:0000468	biolink:Disease	third-degree atrioventricular block	A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC)	ICD9:426.0|UMLS:C0151517|NCIT:C50501|SCTID:27885002|DOID:0050823	mondo.json	complete AV block|atrioventricular block, third degree|complete atrioventricular block|third degree AV block|complete heart block|AV block third degree|non-congenital complete atrioventricular block|atrioventricular block complete|third degree atrioventricular block	http://purl.obolibrary.org/obo/MONDO_0000468	http://identifiers.org/snomedct/27885002|NCIT:C50501|DOID:0050823|UMLS:C0151517	
MONDO:0000467	biolink:Disease	second-degree atrioventricular block	Intermittent failure of atrial electrical impulse conduction to the ventricles.	UMLS:C0264906|SCTID:195042002|NCIT:C111119|ICD9:426.13|UMLS:C1621824|DOID:0050822	mondo.json	second-degree heart block|atrioventricular block second degree|second degree atrioventricular block|atrioventricular block, second degree|AV block second degree|second degree AV block	http://purl.obolibrary.org/obo/MONDO_0000467	http://identifiers.org/snomedct/195042002|UMLS:C1621824|DOID:0050822|UMLS:C0264906|NCIT:C111119	
MONDO:0024416	biolink:Disease	Neorickettsia infectious disease	A disease caused by infection with Neorickettsia.	UMLS:C0276121|SCTID:78355003	mondo.json	neorickettsiosis|Neorickettsia caused disease or disorder|Neorickettsia disease or disorder	http://purl.obolibrary.org/obo/MONDO_0024416	UMLS:C0276121|http://identifiers.org/snomedct/78355003	
MONDO:0024415	biolink:Disease	hemorrhagic duodenitis		UMLS:C0341245|ICD9:535.61|SCTID:95531001	mondo.json	multiple duodenal erosions|hemorrhagic duodenitis|erosive duodenitis	http://purl.obolibrary.org/obo/MONDO_0024415	UMLS:C0341245|http://identifiers.org/snomedct/95531001	
MONDO:0000466	biolink:Disease	first-degree atrioventricular block	A disorder characterized by an electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds.	UMLS:C0085614|NCIT:C62015|ICD9:426.11|DOID:0050821|SCTID:270492004	mondo.json	first degree atrioventricular block|AV block first degree|atrioventricular block, first degree|first degree AV block|atrioventricular block first degree	http://purl.obolibrary.org/obo/MONDO_0000466	NCIT:C62015|DOID:0050821|http://identifiers.org/snomedct/270492004|UMLS:C0085614	
MONDO:0012429	biolink:Disease	Aicardi-Goutieres syndrome 2	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2B gene.	OMIM:610181|GARD:0010894|UMLS:C3489724	mondo.json	AGS2|Aicardi-Goutieres syndrome type 2|Aicardi-Goutieres syndrome 2|RNASEH2B Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome caused by mutation in RNASEH2B|RNASEH2B-related Aicardi-Goutieres syndrome	http://purl.obolibrary.org/obo/MONDO_0012429	https://omim.org/entry/610181|UMLS:C3489724	
HP:0001879	biolink:PhenotypicFeature	Abnormal eosinophil morphology	An abnormal count or structure of eosinophils.	UMLS:C4025738	mondo.json	Abnormality of eosinophils	http://purl.obolibrary.org/obo/HP_0001879		
HP:0001877	biolink:PhenotypicFeature	Abnormal erythrocyte morphology	Any structural abnormality of erythrocytes (red-blood cells).	SNOMEDCT_US:12222001|UMLS:C4020862|UMLS:C0391870	mondo.json	Abnormality of red blood cells|Abnormality of erythroid lineage cell|Abnormality of erythrocytes	http://purl.obolibrary.org/obo/HP_0001877		
MONDO:0012427	biolink:Disease	Loeys-Dietz syndrome 2	A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2.	Orphanet:91387|Orphanet:558|GARD:0010586|DOID:0070234|OMIM:610168|MESH:C537783|NCIT:C114768	mondo.json	Loeys-Dietz syndrome type II|aortic aneurysm, familial thoracic 3|Loeys-Dietz syndrome 2|Marfan syndrome, type II, formerly|Loeys-Dietz syndrome type 2|LDS2|Marfan syndrome, type II|Loeys-Dietz syndrome caused by mutation in TGFBR2|TGFBR2 Loeys-Dietz syndrome	http://purl.obolibrary.org/obo/MONDO_0012427	https://omim.org/entry/610168|http://identifiers.org/mesh/C537783|NCIT:C114768|DOID:0070234	
MONDO:0012428	biolink:Disease	kyphoscoliosis 1		OMIM:610170|MESH:C565711|UMLS:C1857795	mondo.json	KYPSC1|kyphoscoliosis 1	http://purl.obolibrary.org/obo/MONDO_0012428	https://omim.org/entry/610170|UMLS:C1857795|http://identifiers.org/mesh/C565711	
HP:0001878	biolink:PhenotypicFeature	Hemolytic anemia	A type of anemia caused by premature destruction of red blood cells (hemolysis).	MSH:D000743|UMLS:C0002878|SNOMEDCT_US:61261009	mondo.json	Hemolytic anaemia|Haemolytic anaemia|Increased hemolysis	http://purl.obolibrary.org/obo/HP_0001878		
MONDO:0000461	biolink:Disease	nutritional biotin deficiency		MESH:C531633|SCTID:49607006|DOID:0050810	mondo.json	vitamine B7 deficiency|biotin deficiency disease|biotin deficiency|B7 deficiency	http://purl.obolibrary.org/obo/MONDO_0000461	DOID:0050810|http://identifiers.org/snomedct/49607006|http://identifiers.org/mesh/C531633	
MONDO:0000460	biolink:Disease	neural glioblastoma	A molecular subtype of glioblastoma characterized by the expression of the neural markers NEFL, GABRA1, SYT1, and SLC12A5.	DOID:0050806|UMLS:C3828832|NCIT:C111693	mondo.json	neural glioblastoma|glioblastoma neural subtype	http://purl.obolibrary.org/obo/MONDO_0000460	DOID:0050806|NCIT:C111693|UMLS:C3828832	
HP:0001871	biolink:PhenotypicFeature	Abnormality of blood and blood-forming tissues	An abnormality of the hematopoietic system.	UMLS:C4020864|SNOMEDCT_US:191124002|SNOMEDCT_US:34093004|UMLS:C0018939|UMLS:C0850715|MSH:D006402	mondo.json	Abnormality of the haematopoietic system|Hematologic disease|Abnormality of the hematopoietic system|Haematological abnormality|Hematological abnormality|Abnormality of blood and blood-forming tissues	http://purl.obolibrary.org/obo/HP_0001871		
MONDO:0012432	biolink:Disease	Joubert syndrome 5	Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene.	UMLS:C1857780|MESH:C537688|OMIM:610188|DOID:0111000	mondo.json	CEP290 Joubert syndrome|JBTS5|Joubert syndrome 5|Joubert syndrome caused by mutation in CEP290|Joubert syndrome type 5	http://purl.obolibrary.org/obo/MONDO_0012432	UMLS:C1857780|DOID:0111000|http://identifiers.org/mesh/C537688|https://omim.org/entry/610188	
HP:0001872	biolink:PhenotypicFeature	Abnormality of thrombocytes	An abnormality of platelets.	MSH:D013915|UMLS:C4020863|SNOMEDCT_US:32942005|UMLS:C0151854|UMLS:C0040015|SNOMEDCT_US:127566005	mondo.json	Thrombasthenia|Blood platelet disease|Platelet abnormalities	http://purl.obolibrary.org/obo/HP_0001872		
MONDO:0012433	biolink:Disease	Senior-Loken syndrome 6	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene.	OMIM:610189|MESH:C565708|UMLS:C1857779	mondo.json	SENIOR-Loken syndrome 6|Senior-Loken syndrome 6|SLSN6|Senior-Loken syndrome caused by mutation in CEP290|CEP290 Senior-Loken syndrome|Senior-Loken syndrome type 6	http://purl.obolibrary.org/obo/MONDO_0012433	UMLS:C1857779|http://identifiers.org/mesh/C565708|https://omim.org/entry/610189	
MONDO:0012430	biolink:Disease	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene.	MESH:C567656|UMLS:C2750234|OMIM:610185	mondo.json	dysequilibrium syndrome caused by mutation in WDR81|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 2|cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2|CAMRQ2|cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 2|WDR81 dysequilibrium syndrome|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 2|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	http://purl.obolibrary.org/obo/MONDO_0012430	UMLS:C2750234|https://omim.org/entry/610185|http://identifiers.org/mesh/C567656	
MONDO:0012431	biolink:Disease	diaphragmatic hernia 3	Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene.	OMIM:610187|MESH:C565710	mondo.json	ZFPM2 congenital diaphragmatic hernia|congenital diaphragmatic hernia caused by mutation in ZFPM2|diaphragmatic hernia 3|diaphragmatic hernia type 3|DIH3	http://purl.obolibrary.org/obo/MONDO_0012431	http://identifiers.org/mesh/C565710|https://omim.org/entry/610187	
MONDO:0012436	biolink:Disease	neonatal diabetes mellitus with congenital hypothyroidism	A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others	Orphanet:79118|OMIM:610199|MESH:C565705|UMLS:C1857775|DOID:0060638	mondo.json	NDH syndrome|neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome|diabetes mellitus, neonatal, with congenital hypothyroidism|NDH|Ndh syndrome|neonatal diabetes mellitus with congenital hypothyroidism	http://purl.obolibrary.org/obo/MONDO_0012436	UMLS:C1857775|http://identifiers.org/mesh/C565705|Orphanet:79118|DOID:0060638|https://omim.org/entry/610199	ordo_disease
MONDO:0012437	biolink:Disease	cataract 21 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MAF gene.	OMIM:610202|Orphanet:98984|DOID:0110256|MESH:C565703|Orphanet:98989	mondo.json	CTRCT21|congenital cataract cerulean type 4|CCA4|cataract 21, multiple types|MAF early-onset non-syndromic cataract|cataract, congenital, cerulean type, 4|early-onset non-syndromic cataract caused by mutation in MAF|cataract 21, multiple types, with or without microcornea|cataract, pulverulent, juvenile-onset|cataract 21 multiple types with or without microcornea	http://purl.obolibrary.org/obo/MONDO_0012437	https://omim.org/entry/610202|DOID:0110256|http://identifiers.org/mesh/C565703	
HP:0001876	biolink:PhenotypicFeature	Pancytopenia	An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).	SNOMEDCT_US:127034005|UMLS:C0030312|MSH:D010198	mondo.json	Pancytopaenia|Low blood cell count	http://purl.obolibrary.org/obo/HP_0001876		
MONDO:0012434	biolink:Disease	arrhythmogenic right ventricular dysplasia 10	Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.	UMLS:C1857777|DOID:0110081|OMIM:610193|MESH:C565707	mondo.json	arrhythmogenic right ventricular dysplasia, familial, 10|DSG2 arrhythmogenic right ventricular cardiomyopathy|ARVD10|arrhythmogenic right ventricular dysplasia 10|ARVC10|arrhythmogenic right ventricular dysplasia type 10|familial arrhythmogenic right ventricular dysplasia 10|arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSG2|arrhythmogenic right ventricular cardiomyopathy 10|arrhythmogenic right ventricular dysplasia, familial, type 10	http://purl.obolibrary.org/obo/MONDO_0012434	UMLS:C1857777|DOID:0110081|http://identifiers.org/mesh/C565707|https://omim.org/entry/610193	
HP:0001873	biolink:PhenotypicFeature	Thrombocytopenia	A reduction in the number of circulating thrombocytes.	SNOMEDCT_US:302215000|SNOMEDCT_US:415116008|MSH:D013921|UMLS:C0040034|UMLS:C0392386	mondo.json	Low platelet count	http://purl.obolibrary.org/obo/HP_0001873		
MONDO:0012435	biolink:Disease	3-methylglutaconic aciduria type 5	A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.	GARD:0012964|UMLS:C4039473|GARD:0010344|UMLS:C1857776|MESH:C565706|OMIM:610198|DOID:0110000|SCTID:711412004|Orphanet:66634	mondo.json	MGA 5|3-methylglutaconic aciduria type 5|3-METHYLGLUTACONIC aciduria, type V|3 alpha methylglutaconic aciduria type V|DCMA syndrome|dilated cardiomyopathy with ataxia|3 methylglutaconic aciduria type V|DNAJC19 3-methylglutaconic aciduria|MGA5|3-methylglutaconic aciduria type V|3-methylglutaconic aciduria caused by mutation in DNAJC19|DCMA|MGCA5|3-Methylglutaconic aciduria, type 5|cardiomyopathy, dilated, with ataxia|Mga, type 5|MGA V	http://purl.obolibrary.org/obo/MONDO_0012435	UMLS:C1857776|DOID:0110000|http://identifiers.org/mesh/C565706|Orphanet:66634|http://identifiers.org/snomedct/711412004|https://omim.org/entry/610198	ordo_disease|gard_rare
ENVO:01001176	biolink:NamedThing	environment associated with an aquatic invertebrate	An environment which has its properties and composition largely determined by the presence of a metazoan which lacks a vetebral column and which has a habitat that is found in an aquatic environmental system.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001176		
MONDO:0000459	biolink:Disease	mesenchymal glioblastoma	A molecular subtype of glioblastoma characterized by the presence of NF1 mutations.	NCIT:C111695|UMLS:C3829122|DOID:0050805	mondo.json	glioblastoma mesenchymal subtype|mesenchymal glioblastoma	http://purl.obolibrary.org/obo/MONDO_0000459	UMLS:C3829122|DOID:0050805|NCIT:C111695	
IAO:0000228	biolink:NamedThing	term imported			mondo.json		http://purl.obolibrary.org/obo/IAO_0000228		
IAO:0000229	biolink:NamedThing	term split			mondo.json		http://purl.obolibrary.org/obo/IAO_0000229		
UBERON:0035841	biolink:AnatomicalEntity	esophagogastric junction muscularis propria			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035841		
GO:1905651	biolink:NamedThing	regulation of artery morphogenesis	Any process that modulates the frequency, rate or extent of artery morphogenesis.		mondo.json	regulation of arterial morphogenesis|regulation of arteriogenesis	http://purl.obolibrary.org/obo/GO_1905651		
GO:1905652	biolink:NamedThing	negative regulation of artery morphogenesis	Any process that stops, prevents or reduces the frequency, rate or extent of artery morphogenesis.		mondo.json	down regulation of artery morphogenesis|downregulation of arterial morphogenesis|inhibition of artery morphogenesis|down-regulation of artery morphogenesis|downregulation of arteriogenesis|down regulation of arterial morphogenesis|inhibition of arterial morphogenesis|negative regulation of arterial morphogenesis|down-regulation of arterial morphogenesis|down regulation of arteriogenesis|inhibition of arteriogenesis|negative regulation of arteriogenesis|down-regulation of arteriogenesis|downregulation of artery morphogenesis	http://purl.obolibrary.org/obo/GO_1905652		
HGNC:6511	biolink:NamedThing	LARGE1			mondo.json		http://identifiers.org/hgnc/6511		
HGNC:6512	biolink:NamedThing	LARS1			mondo.json		http://identifiers.org/hgnc/6512		
UBERON:0011865	biolink:AnatomicalEntity	corneal stroma collagen fibril			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011865		
UBERON:0011864	biolink:AnatomicalEntity	tendon collagen fibril			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011864		
UBERON:0008229	biolink:AnatomicalEntity	craniocervical region musculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008229		
UBERON:0035838	biolink:AnatomicalEntity	esophagogastric junction mucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035838		
UBERON:0035839	biolink:AnatomicalEntity	esophagogastric junction submucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035839		
IAO:0000233	biolink:NamedThing	term tracker item	An IRI or similar locator for a request or discussion of an ontology term.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000233		
GO:0002504	biolink:NamedThing	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	The process in which an antigen-presenting cell expresses antigen (peptide or polysaccharide) on its cell surface in association with an MHC class II protein complex.		mondo.json	peptide or polysaccharide antigen processing and presentation of via MHC class II	http://purl.obolibrary.org/obo/GO_0002504		
IAO:0000234	biolink:NamedThing	ontology term requester	The name of the person, project, or organization that motivated inclusion of an ontology term by requesting its addition.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000234		
IAO:0000231	biolink:NamedThing	has obsolescence reason	Relates an annotation property to an obsolescence reason. The values of obsolescence reasons come from a list of predefined terms, instances of the class obsolescence reason specification.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000231		
GO:0002507	biolink:NamedThing	tolerance induction	A process that directly activates any of the steps required for tolerance, a physiologic state in which the immune system does not react destructively against the components of an organism that harbors it or against antigens that are introduced to it.		mondo.json		http://purl.obolibrary.org/obo/GO_0002507		
IAO:0000232	biolink:NamedThing	curator note	An administrative note of use for a curator but of no use for a user		mondo.json		http://purl.obolibrary.org/obo/IAO_0000232		
HGNC:6518	biolink:NamedThing	LBR			mondo.json		http://identifiers.org/hgnc/6518		
UBERON:0011863	biolink:AnatomicalEntity	bone collagen fibril			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011863		
UBERON:0011862	biolink:AnatomicalEntity	pulmonary collagen fibril			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011862		
UBERON:0011861	biolink:AnatomicalEntity	aorta collagen fibril			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011861		
UBERON:0011860	biolink:AnatomicalEntity	collection of collagen fibrils			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011860		
GO:1905653	biolink:NamedThing	positive regulation of artery morphogenesis	Any process that activates or increases the frequency, rate or extent of artery morphogenesis.		mondo.json	up regulation of arteriogenesis|up-regulation of arterial morphogenesis|activation of arterial morphogenesis|upregulation of artery morphogenesis|up-regulation of arteriogenesis|activation of arteriogenesis|upregulation of arterial morphogenesis|up regulation of artery morphogenesis|upregulation of arteriogenesis|up-regulation of artery morphogenesis|positive regulation of arterial morphogenesis|activation of artery morphogenesis|up regulation of arterial morphogenesis|positive regulation of arteriogenesis	http://purl.obolibrary.org/obo/GO_1905653		
UBERON:0011856	biolink:AnatomicalEntity	acinus of lactiferous gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011856		
UBERON:0035845	biolink:AnatomicalEntity	enthesis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035845		
HGNC:6522	biolink:NamedThing	LCAT			mondo.json		http://identifiers.org/hgnc/6522		
UBERON:0035847	biolink:AnatomicalEntity	fibrocartilage enthesis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035847		
UBERON:0035846	biolink:AnatomicalEntity	fibrous enthesis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035846		
HGNC:6524	biolink:NamedThing	LCK			mondo.json		http://identifiers.org/hgnc/6524		
UBERON:0011859	biolink:AnatomicalEntity	internal acoustic meatus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011859		
UBERON:0011858	biolink:AnatomicalEntity	acinus of exocrine gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011858		
UBERON:0011857	biolink:AnatomicalEntity	acinus of lacrimal gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011857		
HGNC:21406	biolink:NamedThing	RARS2			mondo.json		http://identifiers.org/hgnc/21406		
UBERON:0011850	biolink:AnatomicalEntity	acinus of salivary gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011850		
GO:1903012	biolink:NamedThing	positive regulation of bone development	Any process that activates or increases the frequency, rate or extent of bone development.		mondo.json	up regulation of bone development|up-regulation of bone development|activation of bone development|upregulation of bone development	http://purl.obolibrary.org/obo/GO_1903012		
UBERON:0011845	biolink:AnatomicalEntity	duct of sebaceous gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011845		
GO:1903011	biolink:NamedThing	negative regulation of bone development	Any process that stops, prevents or reduces the frequency, rate or extent of bone development.		mondo.json	downregulation of bone development|down regulation of bone development|inhibition of bone development|down-regulation of bone development	http://purl.obolibrary.org/obo/GO_1903011		
GO:1903010	biolink:NamedThing	regulation of bone development	Any process that modulates the frequency, rate or extent of bone development.		mondo.json		http://purl.obolibrary.org/obo/GO_1903010		
HGNC:6535	biolink:NamedThing	LDHA			mondo.json		http://identifiers.org/hgnc/6535		
UBERON:0011847	biolink:AnatomicalEntity	acinus of parotid gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011847		
UBERON:0011846	biolink:AnatomicalEntity	acinus of sebaceous gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011846		
GO:0051493	biolink:NamedThing	regulation of cytoskeleton organization	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures.		mondo.json	regulation of cytoskeleton organization and biogenesis|regulation of cytoskeleton organisation	http://purl.obolibrary.org/obo/GO_0051493		
GO:0051494	biolink:NamedThing	negative regulation of cytoskeleton organization	Any process that stops, prevents, or reduces the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures.		mondo.json	down regulation of cytoskeleton organization|inhibition of cytoskeleton organization|downregulation of cytoskeleton organization|negative regulation of cytoskeleton organisation|negative regulation of cytoskeleton organization and biogenesis|down-regulation of cytoskeleton organization	http://purl.obolibrary.org/obo/GO_0051494		
HGNC:6530	biolink:NamedThing	LCT			mondo.json		http://identifiers.org/hgnc/6530		
UBERON:0008202	biolink:AnatomicalEntity	bone of hip region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008202		
GO:0051495	biolink:NamedThing	positive regulation of cytoskeleton organization	Any process that activates or increases the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures.		mondo.json	positive regulation of cytoskeleton organisation|up-regulation of cytoskeleton organization|up regulation of cytoskeleton organization|activation of cytoskeleton organization|positive regulation of cytoskeleton organization and biogenesis|stimulation of cytoskeleton organization|upregulation of cytoskeleton organization	http://purl.obolibrary.org/obo/GO_0051495		
UBERON:0008203	biolink:AnatomicalEntity	pelvic cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008203		
OBI:0000293	biolink:NamedThing	has_specified_input	A relation between a planned process and a continuant participating in that process that is not created during  the process. The presence of the continuant during the process is explicitly specified in the plan specification which the process realizes the concretization of.		mondo.json		http://purl.obolibrary.org/obo/OBI_0000293		
OBI:0000295	biolink:NamedThing	is_specified_input_of	A relation between a planned process and a continuant participating in that process that is not created during  the process. The presence of the continuant during the process is explicitly specified in the plan specification which the process realizes the concretization of.		mondo.json		http://purl.obolibrary.org/obo/OBI_0000295		
OBI:0000299	biolink:NamedThing	has_specified_output	A relation between a planned process and a continuant participating in that process. The presence of the continuant at the end of the process is explicitly specified in the objective specification which the process realizes the concretization of.		mondo.json		http://purl.obolibrary.org/obo/OBI_0000299		
GO:1903019	biolink:NamedThing	negative regulation of glycoprotein metabolic process	Any process that stops, prevents or reduces the frequency, rate or extent of glycoprotein metabolic process.		mondo.json	downregulation of glycoprotein metabolic process|down-regulation of glycoprotein metabolism|negative regulation of glycoprotein metabolism|down regulation of glycoprotein metabolic process|down regulation of glycoprotein metabolism|inhibition of glycoprotein metabolic process|down-regulation of glycoprotein metabolic process|downregulation of glycoprotein metabolism|inhibition of glycoprotein metabolism	http://purl.obolibrary.org/obo/GO_1903019		
GO:1903018	biolink:NamedThing	regulation of glycoprotein metabolic process	Any process that modulates the frequency, rate or extent of glycoprotein metabolic process.		mondo.json	regulation of glycoprotein metabolism	http://purl.obolibrary.org/obo/GO_1903018		
HGNC:6545	biolink:NamedThing	COG1			mondo.json		http://identifiers.org/hgnc/6545		
GO:1903020	biolink:NamedThing	positive regulation of glycoprotein metabolic process	Any process that activates or increases the frequency, rate or extent of glycoprotein metabolic process.		mondo.json	upregulation of glycoprotein metabolic process|up-regulation of glycoprotein metabolism|up regulation of glycoprotein metabolism|up regulation of glycoprotein metabolic process|positive regulation of glycoprotein metabolism|activation of glycoprotein metabolism|up-regulation of glycoprotein metabolic process|activation of glycoprotein metabolic process|upregulation of glycoprotein metabolism	http://purl.obolibrary.org/obo/GO_1903020		
UBERON:0011831	biolink:AnatomicalEntity	duct of vestibular gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011831		
HGNC:6547	biolink:NamedThing	LDLR			mondo.json		http://identifiers.org/hgnc/6547		
HGNC:6541	biolink:NamedThing	LDHB			mondo.json		http://identifiers.org/hgnc/6541		
GO:1903028	biolink:NamedThing	positive regulation of opsonization	Any process that activates or increases the frequency, rate or extent of opsonization.		mondo.json	up-regulation of opsonization|activation of opsonization|upregulation of opsonization|up regulation of opsonization	http://purl.obolibrary.org/obo/GO_1903028		
GO:1903027	biolink:NamedThing	regulation of opsonization	Any process that modulates the frequency, rate or extent of opsonization.		mondo.json		http://purl.obolibrary.org/obo/GO_1903027		
GO:1903026	biolink:NamedThing	negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding	Any process that stops, prevents or reduces the frequency, rate or extent of RNA polymerase II regulatory region sequence-specific DNA binding.		mondo.json	down-regulation of RNA polymerase II regulatory region sequence-specific DNA binding|down regulation of RNA polymerase II regulatory region sequence-specific DNA binding|inhibition of RNA polymerase II regulatory region sequence-specific DNA binding|downregulation of RNA polymerase II regulatory region sequence-specific DNA binding	http://purl.obolibrary.org/obo/GO_1903026		
GO:1903025	biolink:NamedThing	regulation of RNA polymerase II regulatory region sequence-specific DNA binding	Any process that modulates the frequency, rate or extent of RNA polymerase II regulatory region sequence-specific DNA binding.		mondo.json		http://purl.obolibrary.org/obo/GO_1903025		
HP:0001804	biolink:PhenotypicFeature	Hypoplastic fingernail	Underdevelopment of a fingernail.	UMLS:C1856786	mondo.json	Underdeveloped fingernail|Small fingernail	http://purl.obolibrary.org/obo/HP_0001804		
GO:1903034	biolink:NamedThing	regulation of response to wounding	Any process that modulates the frequency, rate or extent of response to wounding.		mondo.json	regulation of physiological response to wounding	http://purl.obolibrary.org/obo/GO_1903034		
HGNC:6554	biolink:NamedThing	LEPR			mondo.json		http://identifiers.org/hgnc/6554		
HGNC:6556	biolink:NamedThing	LETM1			mondo.json		http://identifiers.org/hgnc/6556		
UBERON:0008266	biolink:AnatomicalEntity	periodontal ligament			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008266		
HGNC:6553	biolink:NamedThing	LEP			mondo.json		http://identifiers.org/hgnc/6553		
MONDO:0000403	biolink:Disease	obsolete organ system cancer			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000403		
MONDO:0000402	biolink:Disease	small cell carcinoma	A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble "oat cells" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early.	UMLS:C0334239|NCIT:C4099|SCTID:11010461000119101|DOID:0050685|ICDO:8042/3|NCIT:C3915|ICDO:8041/3|EFO:0008524|MESH:D018288	mondo.json	intermediate cell small cell carcinoma|small cell carcinoma - intermediate cell|small cell carcinoma|small cell carcinoma, intermediate cell (morphologic abnormality)|small cell NEC|small cell neuroendocrine carcinoma|small cell carcinoma, intermediate cell|small cell cancer|small cell carcinoma (extrapulmonary)|oat cell cancer|small cell car. (extrapulmonary)|oat cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0000402	UMLS:C0334239|http://identifiers.org/snomedct/11010461000119101|NCIT:C3915|DOID:0050685|http://identifiers.org/mesh/D018288	
MONDO:0000401	biolink:Disease	obsolete congenital bile acid synthesis defect			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000401		
MONDO:0000400	biolink:Disease	mixed cerebral palsy	A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy.	UMLS:C0751024|ICD9:343.8|SCTID:702318008|NCIT:C97177|DOID:0050673	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000400	UMLS:C0751024|DOID:0050673|http://identifiers.org/snomedct/702318008|NCIT:C97177	
GO:1903039	biolink:NamedThing	positive regulation of leukocyte cell-cell adhesion	Any process that activates or increases the frequency, rate or extent of leukocyte cell-cell adhesion.		mondo.json	positive regulation of leukocyte adhesion|up regulation of leukocyte adhesion|up-regulation of leukocyte cell-cell adhesion|activation of leukocyte cell-cell adhesion|up-regulation of leukocyte cell adhesion|up-regulation of leukocyte adhesion|activation of leukocyte adhesion|up regulation of leukocyte cell adhesion|activation of leukocyte cell adhesion|positive regulation of leukocyte cell adhesion|upregulation of leukocyte cell-cell adhesion|upregulation of leukocyte adhesion|upregulation of leukocyte cell adhesion|up regulation of leukocyte cell-cell adhesion	http://purl.obolibrary.org/obo/GO_1903039		
GO:1903038	biolink:NamedThing	negative regulation of leukocyte cell-cell adhesion	Any process that stops, prevents or reduces the frequency, rate or extent of leukocyte cell-cell adhesion.		mondo.json	inhibition of leukocyte cell adhesion|downregulation of leukocyte cell-cell adhesion|downregulation of leukocyte cell adhesion|downregulation of leukocyte adhesion|down regulation of leukocyte cell-cell adhesion|inhibition of leukocyte cell-cell adhesion|down regulation of leukocyte adhesion|down-regulation of leukocyte cell-cell adhesion|inhibition of leukocyte adhesion|down-regulation of leukocyte adhesion|negative regulation of leukocyte adhesion|down-regulation of leukocyte cell adhesion|negative regulation of leukocyte cell adhesion|down regulation of leukocyte cell adhesion	http://purl.obolibrary.org/obo/GO_1903038		
GO:1903037	biolink:NamedThing	regulation of leukocyte cell-cell adhesion	Any process that modulates the frequency, rate or extent of leukocyte cell-cell adhesion.		mondo.json	regulation of leukocyte cell adhesion|regulation of leukocyte adhesion	http://purl.obolibrary.org/obo/GO_1903037		
GO:1903036	biolink:NamedThing	positive regulation of response to wounding	Any process that activates or increases the frequency, rate or extent of response to wounding.		mondo.json	upregulation of response to wounding|upregulation of physiological response to wounding|positive regulation of physiological response to wounding|up regulation of response to wounding|up regulation of physiological response to wounding|up-regulation of response to wounding|activation of response to wounding|activation of physiological response to wounding|up-regulation of physiological response to wounding	http://purl.obolibrary.org/obo/GO_1903036		
GO:1903035	biolink:NamedThing	negative regulation of response to wounding	Any process that stops, prevents or reduces the frequency, rate or extent of response to wounding.		mondo.json	down regulation of response to wounding|down regulation of physiological response to wounding|inhibition of response to wounding|inhibition of physiological response to wounding|down-regulation of response to wounding|down-regulation of physiological response to wounding|negative regulation of physiological response to wounding|downregulation of response to wounding|downregulation of physiological response to wounding	http://purl.obolibrary.org/obo/GO_1903035		
UBERON:0011899	biolink:AnatomicalEntity	epimysium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011899		
UBERON:0035805	biolink:AnatomicalEntity	muscle layer of sigmoid colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035805		
UBERON:0035804	biolink:AnatomicalEntity	future mouth			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035804		
UBERON:0035809	biolink:AnatomicalEntity	serous cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035809		
HGNC:6560	biolink:NamedThing	LFNG			mondo.json		http://identifiers.org/hgnc/6560		
UBERON:0008255	biolink:AnatomicalEntity	right clavicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008255		
HGNC:6562	biolink:NamedThing	LGALS2			mondo.json		http://identifiers.org/hgnc/6562		
UBERON:0008256	biolink:AnatomicalEntity	left clavicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008256		
GO:2000609	biolink:NamedThing	regulation of thyroid hormone generation	Any process that modulates the frequency, rate or extent of thyroid hormone generation.		mondo.json		http://purl.obolibrary.org/obo/GO_2000609		
UBERON:0011892	biolink:AnatomicalEntity	anterior uvea			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011892		
GO:1903049	biolink:NamedThing	negative regulation of acetylcholine-gated cation channel activity	Any process that stops, prevents or reduces the frequency, rate or extent of acetylcholine-gated cation channel activity.		mondo.json	down-regulation of acetylcholine-gated cation channel activity|down regulation of acetylcholine-gated cation channel activity|inhibition of acetylcholine-gated cation channel activity|downregulation of acetylcholine-gated cation channel activity	http://purl.obolibrary.org/obo/GO_1903049		
GO:1903048	biolink:NamedThing	regulation of acetylcholine-gated cation channel activity	Any process that modulates the frequency, rate or extent of acetylcholine-gated cation channel activity.		mondo.json		http://purl.obolibrary.org/obo/GO_1903048		
GO:1903047	biolink:NamedThing	mitotic cell cycle process	A process that is part of the mitotic cell cycle.		mondo.json		http://purl.obolibrary.org/obo/GO_1903047		
UBERON:0011894	biolink:AnatomicalEntity	lumen of vagina			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011894		
GO:1903046	biolink:NamedThing	meiotic cell cycle process	A process that is part of the meiotic cell cycle.		mondo.json		http://purl.obolibrary.org/obo/GO_1903046		
UBERON:0035820	biolink:AnatomicalEntity	peritoneal sac			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035820		
GO:1903055	biolink:NamedThing	positive regulation of extracellular matrix organization	Any process that activates or increases the frequency, rate or extent of extracellular matrix organization.		mondo.json	positive regulation of extracellular matrix organization and biogenesis|activation of extracellular matrix organization|up regulation of extracellular matrix organization and biogenesis|up-regulation of extracellular matrix organisation|upregulation of extracellular matrix organization|up-regulation of extracellular matrix organization and biogenesis|up regulation of extracellular matrix organisation|positive regulation of extracellular matrix organisation|activation of extracellular matrix organisation|up-regulation of extracellular matrix organization|activation of extracellular matrix organization and biogenesis|upregulation of extracellular matrix organization and biogenesis|upregulation of extracellular matrix organisation|up regulation of extracellular matrix organization	http://purl.obolibrary.org/obo/GO_1903055		
GO:1903054	biolink:NamedThing	negative regulation of extracellular matrix organization	Any process that stops, prevents or reduces the frequency, rate or extent of extracellular matrix organization.		mondo.json	down regulation of extracellular matrix organisation|inhibition of extracellular matrix organization and biogenesis|down-regulation of extracellular matrix organization|downregulation of extracellular matrix organisation|inhibition of extracellular matrix organisation|downregulation of extracellular matrix organization and biogenesis|down regulation of extracellular matrix organization|down regulation of extracellular matrix organization and biogenesis|downregulation of extracellular matrix organization|inhibition of extracellular matrix organization|down-regulation of extracellular matrix organization and biogenesis|negative regulation of extracellular matrix organization and biogenesis|negative regulation of extracellular matrix organisation|down-regulation of extracellular matrix organisation	http://purl.obolibrary.org/obo/GO_1903054		
UBERON:0035814	biolink:AnatomicalEntity	pericardial fat			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035814		
GO:1903053	biolink:NamedThing	regulation of extracellular matrix organization	Any process that modulates the frequency, rate or extent of extracellular matrix organization.		mondo.json	regulation of extracellular matrix organisation|regulation of extracellular matrix organization and biogenesis	http://purl.obolibrary.org/obo/GO_1903053		
OBO:HsapDv_0000001	biolink:NamedThing	human life cycle	Temporal interval that defines human life from the prenatal stage until late adulthood.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000001		
UBERON:0035815	biolink:AnatomicalEntity	paracardial fat			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035815		
UBERON:0035818	biolink:AnatomicalEntity	visceral fat			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035818		
OBO:HsapDv_0000000	biolink:NamedThing	human life cycle stage	A spatiotemporal region encompassing some part of the life cycle of an organism.		mondo.json	developmental stage|stage	http://purl.obolibrary.org/obo/HsapDv_0000000		
UBERON:0035819	biolink:AnatomicalEntity	abdominopelvic cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035819		
UBERON:0008242	biolink:AnatomicalEntity	lower back muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008242		
UBERON:0008243	biolink:AnatomicalEntity	upper back muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008243		
HGNC:6572	biolink:NamedThing	LGI1			mondo.json		http://identifiers.org/hgnc/6572		
OBO:cl#has_low_plasma_membrane_amount	biolink:NamedThing	has_low_plasma_membrane_amount	A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617).		mondo.json		http://purl.obolibrary.org/obo/cl#has_low_plasma_membrane_amount		
NCBITaxon:4564	biolink:OrganismalEntity	Triticum		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_4564		
GO:2000610	biolink:NamedThing	negative regulation of thyroid hormone generation	Any process that stops, prevents or reduces the frequency, rate or extent of thyroid hormone generation.		mondo.json		http://purl.obolibrary.org/obo/GO_2000610		
GO:2000611	biolink:NamedThing	positive regulation of thyroid hormone generation	Any process that activates or increases the frequency, rate or extent of thyroid hormone generation.		mondo.json		http://purl.obolibrary.org/obo/GO_2000611		
GO:1903059	biolink:NamedThing	regulation of protein lipidation	Any process that modulates the frequency, rate or extent of protein lipidation.		mondo.json	regulation of protein amino acid lipidation|regulation of lipid:protein modification	http://purl.obolibrary.org/obo/GO_1903059		
UBERON:0035831	biolink:AnatomicalEntity	costal diaphragm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035831		
UBERON:0011878	biolink:AnatomicalEntity	muscle layer of esophagus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011878		
UBERON:0011877	biolink:AnatomicalEntity	margin of tongue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011877		
UBERON:0035825	biolink:AnatomicalEntity	left adrenal gland cortex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035825		
UBERON:0011875	biolink:AnatomicalEntity	ligament of sternoclavicular joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011875		
UBERON:0035827	biolink:AnatomicalEntity	right adrenal gland cortex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035827		
UBERON:0035826	biolink:AnatomicalEntity	left adrenal gland medulla			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035826		
GO:1903061	biolink:NamedThing	positive regulation of protein lipidation	Any process that activates or increases the frequency, rate or extent of protein lipidation.		mondo.json	positive regulation of lipid:protein modification|upregulation of protein amino acid lipidation|up regulation of lipid:protein modification|up regulation of protein lipidation|up-regulation of lipid:protein modification|activation of lipid:protein modification|activation of protein lipidation|up-regulation of protein lipidation|up-regulation of protein amino acid lipidation|upregulation of lipid:protein modification|up regulation of protein amino acid lipidation|activation of protein amino acid lipidation|upregulation of protein lipidation|positive regulation of protein amino acid lipidation	http://purl.obolibrary.org/obo/GO_1903061		
GO:1903060	biolink:NamedThing	negative regulation of protein lipidation	Any process that stops, prevents or reduces the frequency, rate or extent of protein lipidation.		mondo.json	negative regulation of protein amino acid lipidation|down-regulation of protein amino acid lipidation|down regulation of protein amino acid lipidation|downregulation of lipid:protein modification|downregulation of protein lipidation|inhibition of protein amino acid lipidation|downregulation of protein amino acid lipidation|down regulation of lipid:protein modification|down regulation of protein lipidation|inhibition of lipid:protein modification|inhibition of protein lipidation|negative regulation of lipid:protein modification|down-regulation of lipid:protein modification|down-regulation of protein lipidation	http://purl.obolibrary.org/obo/GO_1903060		
UBERON:0035828	biolink:AnatomicalEntity	right adrenal gland medulla			mondo.json		http://purl.obolibrary.org/obo/UBERON_0035828		
IAO:0000226	biolink:NamedThing	placeholder removed			mondo.json		http://purl.obolibrary.org/obo/IAO_0000226		
IAO:0000227	biolink:NamedThing	terms merged			mondo.json		http://purl.obolibrary.org/obo/IAO_0000227		
UBERON:0008230	biolink:AnatomicalEntity	tibialis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008230		
IAO:0000224	biolink:NamedThing	obsolete_core	Core is an instance of a grouping of terms from an ontology or ontologies. It is used by the ontology to identify main classes.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000224		
UBERON:0008231	biolink:AnatomicalEntity	dorsal thoracic segment of trunk			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008231		
IAO:0000225	biolink:NamedThing	obsolescence reason specification	The reason for which a term has been deprecated. The allowed values come from an enumerated list of predefined terms. See the specification of these instances for more detailed definitions of each enumerated value.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000225		
HGNC:6584	biolink:NamedThing	LHB			mondo.json		http://identifiers.org/hgnc/6584		
HGNC:6585	biolink:NamedThing	LHCGR			mondo.json		http://identifiers.org/hgnc/6585		
GO:0002465	biolink:NamedThing	peripheral tolerance induction	Tolerance induction in the peripheral lymphoid tissues: blood, lymph nodes, spleen, and mucosal-associated lymphoid tissues.		mondo.json		http://purl.obolibrary.org/obo/GO_0002465		
OBO:HsapDv_0000104	biolink:NamedThing	10-year-old human stage	Child stage that refers to a child who is over 10 and under 11 years old.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000104		
OBO:HsapDv_0000105	biolink:NamedThing	11-year-old human stage	Child stage that refers to a child who is over 11 and under 12 years old.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000105		
GO:0002460	biolink:NamedThing	adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains	An immune response mediated by lymphocytes expressing specific receptors for antigen produced through a somatic diversification process that includes somatic recombination of germline gene segments encoding immunoglobulin superfamily domains. Recombined receptors for antigen encoded by immunoglobulin superfamily domains include T cell receptors and immunoglobulins (antibodies) produced by B cells. The first encounter with antigen elicits a primary immune response that is slow and not of great magnitude. T and B cells selected by antigen become activated and undergo clonal expansion. A fraction of antigen-reactive T and B cells become memory cells, whereas others differentiate into effector cells. The memory cells generated during the primary response enable a much faster and stronger secondary immune response upon subsequent exposures to the same antigen (immunological memory). An example of this is the adaptive immune response found in Mus musculus.		mondo.json		http://purl.obolibrary.org/obo/GO_0002460		
GO:0002461	biolink:NamedThing	tolerance induction dependent upon immune response	Tolerance induction dependent upon an immune response, typically a response by a mature T or B cell in the periphery resulting tolerance towards an antigen via induction of anergy, cellular deletion, or regulatory T cell activation.		mondo.json	immune response-dependent tolerance induction	http://purl.obolibrary.org/obo/GO_0002461		
OBO:HsapDv_0000102	biolink:NamedThing	8-year-old human stage	Child stage that refers to a child who is over 8 and under 9 years old.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000102		
OBO:HsapDv_0000103	biolink:NamedThing	9-year-old human stage	Child stage that refers to a child who is over 9 and under 10 years old.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000103		
OBO:HsapDv_0000108	biolink:NamedThing	14-year-old human stage	Adolescent stage that refers to an adolescent who is over 14 and under 15 years old.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000108		
OBO:HsapDv_0000109	biolink:NamedThing	15-year-old human stage	Adolescent stage that refers to an adolescent who is over 15 and under 16 years old.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000109		
OBO:HsapDv_0000106	biolink:NamedThing	12-year-old human stage	Child stage that refers to a child who is over 12 and under 13 years old.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000106		
OBO:HsapDv_0000107	biolink:NamedThing	13-year-old human stage	Adolescent stage that refers to an adolescent who is over 13 and under 14 years old.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000107		
OBO:HsapDv_0000100	biolink:NamedThing	6-year-old human stage	Child stage that refers to a child who is over 6 and under 7 years old.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000100		
OBO:HsapDv_0000101	biolink:NamedThing	7-year-old human stage	Child stage that refers to a child who is over 7 and under 8 years old.		mondo.json		http://purl.obolibrary.org/obo/HsapDv_0000101		
CHEBI:53368	biolink:ChemicalSubstance	ionic macromolecule	A macromolecule containing ionic groups.		mondo.json	polyionic macromolecule|ionic polymer	http://purl.obolibrary.org/obo/CHEBI_53368		
GO:0002445	biolink:NamedThing	type II hypersensitivity	An inflammatory response resulting in cell death or dysfunction mediated by activation of the classical complement pathway or induction of effector cell phagocytosis, cytolysis mechanisms via complement or Fc receptors following the binding of antibodies to cell surface antigens on a target cell, or mediated by the direct binding of antibody to cellular receptors.		mondo.json		http://purl.obolibrary.org/obo/GO_0002445		
GO:0002441	biolink:NamedThing	histamine secretion involved in inflammatory response	The regulated release of histamine by a cell as part of an inflammatory response.		mondo.json	histamine secretion involved in acute inflammatory response	http://purl.obolibrary.org/obo/GO_0002441		
GO:0002442	biolink:NamedThing	serotonin secretion involved in inflammatory response	The regulated release of serotonin by a cell as part of an inflammatory response.		mondo.json	serotonin release involved in inflammatory response|serotonin secretion involved in acute inflammatory response	http://purl.obolibrary.org/obo/GO_0002442		
GO:0002443	biolink:NamedThing	leukocyte mediated immunity	Any process involved in the carrying out of an immune response by a leukocyte.		mondo.json	leucocyte immune effector process|leucocyte mediated immunity|immune cell mediated immunity|leukocyte immune effector process|immune cell effector process|cellular immune response|cell-mediated immune response	http://purl.obolibrary.org/obo/GO_0002443		
GO:0002444	biolink:NamedThing	myeloid leukocyte mediated immunity	Any process involved in the carrying out of an immune response by a myeloid leukocyte.		mondo.json	myeloid leukocyte immune effector process|myeloid leucocyte immune effector process|myeloid leucocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002444		
GO:0002440	biolink:NamedThing	production of molecular mediator of immune response	The synthesis or release of any molecular mediator of the immune response, resulting in an increase in its intracellular or extracellular levels.		mondo.json	production of cellular mediator of immune response	http://purl.obolibrary.org/obo/GO_0002440		
GO:0002449	biolink:NamedThing	lymphocyte mediated immunity	Any process involved in the carrying out of an immune response by a lymphocyte.		mondo.json	cellular immune response|cell-mediated immunity	http://purl.obolibrary.org/obo/GO_0002449		
GO:0002456	biolink:NamedThing	T cell mediated immunity	Any process involved in the carrying out of an immune response by a T cell.		mondo.json	cellular immune response|T-cell mediated immunity|cell-mediated immunity|T lymphocyte mediated immunity|T-lymphocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002456		
UBERON:0008307	biolink:AnatomicalEntity	heart endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0008307		
GO:0002429	biolink:NamedThing	immune response-activating cell surface receptor signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of a cell capable of activating or perpetuating an immune response.		mondo.json	immune response-activating cell surface receptor signalling pathway|activation of immune response by cell surface receptor signaling pathway	http://purl.obolibrary.org/obo/GO_0002429		
GO:0051445	biolink:NamedThing	regulation of meiotic cell cycle	Any process that modulates the rate or extent of progression through the meiotic cell cycle.		mondo.json	regulation of progression through meiotic cell cycle|modulation of meiotic cell cycle progression|regulation of meiotic cell cycle progression|meiotic cell cycle regulator|meiotic cell cycle modulation|meiotic cell cycle regulation	http://purl.obolibrary.org/obo/GO_0051445		
GO:0051446	biolink:NamedThing	positive regulation of meiotic cell cycle	Any process that activates or increases the frequency, rate or extent of progression through the meiotic cell cycle.		mondo.json	up regulation of progression through meiotic cell cycle|stimulation of progression through meiotic cell cycle|positive regulation of meiotic cell cycle progression|up-regulation of progression through meiotic cell cycle|activation of progression through meiotic cell cycle|upregulation of progression through meiotic cell cycle|positive regulation of progression through meiotic cell cycle	http://purl.obolibrary.org/obo/GO_0051446		
GO:0002437	biolink:NamedThing	inflammatory response to antigenic stimulus	An inflammatory response to an antigenic stimulus, which can be include any number of T cell or B cell epitopes.		mondo.json		http://purl.obolibrary.org/obo/GO_0002437		
GO:0002430	biolink:NamedThing	complement receptor mediated signaling pathway	The series of molecular signals generated as a consequence of a component of the complement pathway binding to a complement receptor. Such components include both whole complement proteins and fragments of complement proteins generated through the activity of the complement pathway.		mondo.json	complement receptor mediated signalling pathway|immune response-regulating cell surface receptor signalling pathway	http://purl.obolibrary.org/obo/GO_0002430		
GO:0051447	biolink:NamedThing	negative regulation of meiotic cell cycle	Any process that stops, prevents or reduces the rate or extent of progression through the meiotic cell cycle.		mondo.json	negative regulation of meiotic cell cycle progression|downregulation of progression through meiotic cell cycle|down regulation of progression through meiotic cell cycle|inhibition of progression through meiotic cell cycle|negative regulation of progression through meiotic cell cycle|down-regulation of progression through meiotic cell cycle	http://purl.obolibrary.org/obo/GO_0051447		
GO:0002433	biolink:NamedThing	immune response-regulating cell surface receptor signaling pathway involved in phagocytosis	An immune response-regulating cell surface receptor signaling pathway that contributes to the endocytic engulfment of external particulate material by phagocytes.		mondo.json	phagocytosis triggered by activation of immune response cell surface activating receptor|immune response-regulating cell surface receptor signalling pathway involved in phagocytosis	http://purl.obolibrary.org/obo/GO_0002433		
GO:2000677	biolink:NamedThing	regulation of transcription regulatory region DNA binding	Any process that modulates the frequency, rate or extent of transcription regulatory region DNA binding.		mondo.json		http://purl.obolibrary.org/obo/GO_2000677		
GO:2000678	biolink:NamedThing	negative regulation of transcription regulatory region DNA binding	Any process that stops, prevents or reduces the frequency, rate or extent of transcription regulatory region DNA binding.		mondo.json		http://purl.obolibrary.org/obo/GO_2000678		
GO:2000679	biolink:NamedThing	positive regulation of transcription regulatory region DNA binding	Any process that activates or increases the frequency, rate or extent of transcription regulatory region DNA binding.		mondo.json		http://purl.obolibrary.org/obo/GO_2000679		
UBERON:0011932	biolink:AnatomicalEntity	pilosebaceous unit			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011932		
UBERON:0011931	biolink:AnatomicalEntity	nasal hair			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011931		
UBERON:0011930	biolink:AnatomicalEntity	preganglionic parasympathetic fiber			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011930		
GO:0002438	biolink:NamedThing	acute inflammatory response to antigenic stimulus	An acute inflammatory response to an antigenic stimulus. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response.		mondo.json		http://purl.obolibrary.org/obo/GO_0002438		
CHEBI:53309	biolink:ChemicalSubstance	polyanionic macromolecule	A polymer carrying multiple negative charges.		mondo.json	polyanions|polyanion	http://purl.obolibrary.org/obo/CHEBI_53309		
GO:0051458	biolink:NamedThing	corticotropin secretion	The regulated release of corticotropin by a cell. Corticotropin hormone is a polypeptide hormone synthesized and secreted from corticotropes in the anterior lobe of the pituitary gland in response to corticotropin-releasing hormone (CRH) released by the hypothalamus.		mondo.json	ACTH secretion|corticotropic hormone secretion|adrenotropic hormone secretion|adrenocorticotropin secretion|adrenocorticotropic hormone secretion|adrenotropin secretion	http://purl.obolibrary.org/obo/GO_0051458		
GO:0051459	biolink:NamedThing	regulation of corticotropin secretion	Any process that modulates the frequency, rate or extent of the regulated release of corticotropic hormone from a cell.		mondo.json	regulation of adrenotropin hormone secretion|regulation of corticotropic hormone secretion|regulation of adrenocorticotropin secretion|regulation of adrenotropin secretion|regulation of adrenocorticotropic hormone secretion|regulation of ACTH secretion	http://purl.obolibrary.org/obo/GO_0051459		
UBERON:0011921	biolink:AnatomicalEntity	connecting stalk blood islands			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011921		
UBERON:0011925	biolink:AnatomicalEntity	preganglionic autonomic fiber			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011925		
UBERON:0011927	biolink:AnatomicalEntity	preganglionic sympathetic fiber			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011927		
IAO:0000178	biolink:NamedThing	material information bearer	A material entity in which a concretization of an information content entity inheres.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000178		
CHEBI:16393	biolink:ChemicalSubstance	sphingosine	A sphing-4-enine in which the double bond is trans.		mondo.json	trans-4-sphingenine|(2S,3R,E)-2-aminooctadec-4-ene-1,3-diol|Sphingenine|sphingosin|C18 sphingosine|(2S,3R,4E)-2-amino-3-hydroxyoctadec-4-ene-1-ol|D-erythro-sphingosine|Sph|(2S,3R)-(E)-2-amino-1,3-dihydroxy-4-octadecene|(E)-2-amino-4-octadecan-1,3-diol|D-(+)-erythro-1,3-dihydroxy-2-amino-4-trans-octadecene|Sphingosine|Sphing-4-enine|trans-D-erythro-2-amino-4-octadecene-1,3-diol|Sphingosine d18:1|(2S,3R,4E)-2-amino-4-octadecene-1,3-diol|2-amino-4-octadecene-1,3-diol|(E)-D-erythro-4-octadecene-1,3-diol|(2S,3R,4E)-2-aminooctadec-4-ene-1,3-diol|(4E)-sphing-4-enine|Sphingoid|(4E)-sphingenine	http://purl.obolibrary.org/obo/CHEBI_16393		
HGNC:6501	biolink:NamedThing	LAMP2			mondo.json		http://identifiers.org/hgnc/6501		
HGNC:6502	biolink:NamedThing	RPSA			mondo.json		http://identifiers.org/hgnc/6502		
GO:1905636	biolink:NamedThing	positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding	Any process that activates or increases the frequency, rate or extent of RNA polymerase II regulatory region sequence-specific DNA binding.		mondo.json	up regulation of RNA polymerase II regulatory region sequence-specific DNA binding|activation of RNA polymerase II regulatory region sequence-specific DNA binding|upregulation of RNA polymerase II regulatory region sequence-specific DNA binding|up-regulation of RNA polymerase II regulatory region sequence-specific DNA binding	http://purl.obolibrary.org/obo/GO_1905636		
UBERON:0011919	biolink:AnatomicalEntity	yolk sac blood island			mondo.json		http://purl.obolibrary.org/obo/UBERON_0011919		
GO:0051460	biolink:NamedThing	negative regulation of corticotropin secretion	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of corticotropic hormone from a cell.		mondo.json	negative regulation of adrenotropic hormone secretion|inhibition of adrenocorticotropin secretion|downregulation of adrenocorticotropin secretion|negative regulation of adrenocorticotropic hormone secretion|negative regulation of adrenotropin secretion|negative regulation of corticotropic hormone secretion|negative regulation of adrenocorticotropin secretion|down-regulation of adrenocorticotropin secretion|negative regulation of ACTH secretion|down regulation of adrenocorticotropin secretion	http://purl.obolibrary.org/obo/GO_0051460		
GO:0051463	biolink:NamedThing	negative regulation of cortisol secretion	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of cortisol from a cell.		mondo.json	down-regulation of cortisol secretion|downregulation of cortisol secretion|down regulation of cortisol secretion|inhibition of cortisol secretion	http://purl.obolibrary.org/obo/GO_0051463		
GO:0051464	biolink:NamedThing	positive regulation of cortisol secretion	Any process that activates or increases the frequency, rate or extent of the regulated release of cortisol from a cell.		mondo.json	upregulation of cortisol secretion|stimulation of cortisol secretion|up regulation of cortisol secretion|activation of cortisol secretion|up-regulation of cortisol secretion	http://purl.obolibrary.org/obo/GO_0051464		
GO:0051461	biolink:NamedThing	positive regulation of corticotropin secretion	Any process that activates or increases the frequency, rate or extent of the regulated release of corticotropin hormone from a cell.		mondo.json	positive regulation of ACTH secretion|up-regulation of adrenocorticotropin secretion|positive regulation of adrenotropic hormone secretion|up regulation of adrenocorticotropin secretion|activation of adrenocorticotropin secretion|positive regulation of corticotropic hormone secretion|positive regulation of adrenocorticotropin secretion|stimulation of adrenocorticotropin secretion|upregulation of adrenocorticotropin secretion|positive regulation of adrenotropin secretion|positive regulation of adrenocorticotropic hormone secretion	http://purl.obolibrary.org/obo/GO_0051461		
GO:0051462	biolink:NamedThing	regulation of cortisol secretion	Any process that modulates the frequency, rate or extent of the regulated release of cortisol from a cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0051462		
MONDO:0024487	biolink:Disease	nail infection	An infectious process affecting the nail.	UMLS:C0343026|NCIT:C78493	mondo.json	nail infection	http://purl.obolibrary.org/obo/MONDO_0024487	NCIT:C78493|UMLS:C0343026	
MONDO:0024486	biolink:Disease	obsolete familial chronic mucocutaneous candidiasis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0024486		
MONDO:0024489	biolink:Disease	general tumor grading characteristic	A term that refers to the cellular differentiation of a malignant cellular infiltrate. A cancer is defined through grades I-IV (or 1-4), or as well, moderately, poorly differentiated or undifferentiated.	NCIT:C28076	mondo.json	disease grade qualifier	http://purl.obolibrary.org/obo/MONDO_0024489	NCIT:C28076	
MONDO:0024488	biolink:Disease	tumor grading characteristic	A modifier that can be applied to a tumor class describing abnormal tumor histology or morphology. It is an indicator of how quickly a tumor is likely to grow and spread		mondo.json		http://purl.obolibrary.org/obo/MONDO_0024488		
ENVO:01001125	biolink:NamedThing	ice	An ice is an environmental material which is either frozen or which is maintained in a solid state by gravitational forces or pressure.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001125		
HP:0011138	biolink:PhenotypicFeature	Abnormality of skin adnexa morphology	An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.	UMLS:C4023518	mondo.json	Abnormal skin appendage	http://purl.obolibrary.org/obo/HP_0011138		
MONDO:0024481	biolink:Disease	skin appendage disorder	A disease that involves the cutaneous appendage.	SCTID:238714008|ICD10CM:L60-L75|UMLS:C0037272	mondo.json	disease of cutaneous appendage|disorder of cutaneous appendage|disease of epidermal appendage|disorder of skin appendage|cutaneous appendage disease|disease or disorder of cutaneous appendage|disease of epidermal appendages|cutaneous appendage disease or disorder	http://purl.obolibrary.org/obo/MONDO_0024481	http://identifiers.org/snomedct/238714008|UMLS:C0037272|http://purl.bioontology.org/ontology/ICD10CM/L60-L75	
MONDO:0024480	biolink:Disease	dermatosis of eyelid		UMLS:C1274150|SCTID:402700001	mondo.json	dermatosis of eyelid	http://purl.obolibrary.org/obo/MONDO_0024480	http://identifiers.org/snomedct/402700001|UMLS:C1274150	
MONDO:0024483	biolink:Disease	urothelial hyperplasia	Hyperplasia of the transitional epithelium of the urinary tract. Morphologically it is subdivided into flat and papillary hyperplasia. -- 2003	NCIT:C27877	mondo.json	urothelial hyperplasia|urothelium hyperplasia	http://purl.obolibrary.org/obo/MONDO_0024483	NCIT:C27877	
MONDO:0024482	biolink:Disease	eccrine sweat gland hamartoma	A hamartoma characterized by localized eccrine sweat gland malformation.	NCIT:C5564|UMLS:C1333372	mondo.json	eccrine sweat gland hamartoma (disease)|eccrine sweat gland hamartoma|hamartoma of the eccrine sweat gland|hamartoma of eccrine sweat gland	http://purl.obolibrary.org/obo/MONDO_0024482	UMLS:C1333372|NCIT:C5564	
MONDO:0024485	biolink:Disease	papillary urothelial hyperplasia	A type of hyperplasia that is characterized by variable thickening of the urinary tract epithelium and a slight papillary growth. The latter is not associated with the presence of fibrovascular cores. There is no evidence of atypia. The relationship between this lesion and papillary urothelial neoplasia is not clear. -- 2003	NCIT:C27879	mondo.json	papillary urothelial hyperplasia	http://purl.obolibrary.org/obo/MONDO_0024485	NCIT:C27879	
ENVO:01001122	biolink:NamedThing	gas planet	A planet which is primarily composed of hydrogen and helium.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001122		
MONDO:0024476	biolink:Disease	epithelial neoplasm of rectum	A epithelial neoplasm that involves the rectum.		mondo.json	rectum epithelial neoplasm|rectal epithelial tumor|rectal epithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0024476		
HP:0011121	biolink:PhenotypicFeature	Abnormality of skin morphology	Any morphological abnormality of the skin.	Fyler:4133|UMLS:C4023528	mondo.json	Abnormal skin structure|Abnormal skin morphology	http://purl.obolibrary.org/obo/HP_0011121		
MONDO:0024475	biolink:Disease	squamous cell intraepithelial neoplasia		NCIT:C8334	mondo.json	squamous intraepithelial lesion|sil|squamous cell intraepithelial neoplasia|SIN	http://purl.obolibrary.org/obo/MONDO_0024475	NCIT:C8334	
MONDO:0024478	biolink:Disease	mesenchymal hamartoma		UMLS:C0334090|NCIT:C40427	mondo.json	mesenchymal hamartoma	http://purl.obolibrary.org/obo/MONDO_0024478	UMLS:C0334090|NCIT:C40427	
HP:0011122	biolink:PhenotypicFeature	Abnormality of skin physiology	Any abnormality of the physiological function of the skin.	UMLS:C4023527	mondo.json	Abnormality of skin physiology	http://purl.obolibrary.org/obo/HP_0011122		
MONDO:0024477	biolink:Disease	liver and intrahepatic bile duct neoplasm	A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma.	NCIT:C7103|SCTID:126851005|EFO:1001513|DOID:916|UMLS:C1333976|ONCOTREE:LIVER|NCIT:C7106|UMLS:C0023903	mondo.json	liver neoplasm (disease)|neoplasm of liver|liver tumor|hepatic and intrahepatic bile duct neoplasm|liver neoplasm|tumor of liver|epithelial hepatic and intrahepatic bile duct neoplasm|liver and intrahepatic bile duct neoplasm|liver and intrahepatic bile duct epithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0024477	UMLS:C0023903|http://identifiers.org/snomedct/126851005|UMLS:C1333976|DOID:916|NCIT:C7103|NCIT:C7106	
HP:0011123	biolink:PhenotypicFeature	Inflammatory abnormality of the skin	The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.	MP:0004947|UMLS:C0011603|SNOMEDCT_US:703938007|MSH:D003872|UMLS:C3875321	mondo.json	Dermatitis|Inflammatory abnormality of the skin|Skin inflammation|Abnormal tendency to infections of the skin|Inflammatory skin disease	http://purl.obolibrary.org/obo/HP_0011123		
MONDO:0024479	biolink:Disease	epithelial tumor of colon	A epithelial neoplasm that involves the colon.		mondo.json	colon epithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0024479		
MONDO:0024470	biolink:Disease	benign chondrogenic neoplasm	A non-metastasizing cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes. Representative examples include osteochondroma and chondroma.	UMLS:C0852519|SCTID:722690001|NCIT:C8592	mondo.json	chondrogenic neoplasm, benign|benign cartilaginous neoplasm|benign cartilaginous tumor|benign neoplasm of the cartilage|benign neoplasm of cartilage|benign tumor of the cartilage|benign chondrogenic neoplasm|benign tumor of cartilage|benign chondrogenic tumor	http://purl.obolibrary.org/obo/MONDO_0024470	NCIT:C8592|UMLS:C0852519|http://identifiers.org/snomedct/722690001	
MONDO:0024472	biolink:Disease	boutonneuse fever	An infectious disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with rickettsia conorii subsp. coronorii.	UMLS:C0006060|SCTID:186774005|Orphanet:83313|Orphanet:101334|DOID:14095|ICD9:082.1|MESH:D001907|EFO:0007179|MedDRA:10006045	mondo.json	boutonneuse disease|Kenya fever|Kenyan tick typhus|fievre boutonneuse|Conor and Bruch's disease|marseilles fever|boutonneuse fever|Kenya tick typhus|Mediterranean tick fever|Mediterranean spotted fever|Rickettsia conorii spotted fever|South African tick-bite fever|tick typhus due to rickettsia conorii|African tick typhus	http://purl.obolibrary.org/obo/MONDO_0024472	DOID:14095|http://identifiers.org/mesh/D001907|http://identifiers.org/snomedct/186774005|UMLS:C0006060|Orphanet:83313|Orphanet:101334	ordo_disease|ordo_etiological_subtype
MONDO:0024471	biolink:Disease	non-inflammatory vasculopathy		Orphanet:496924	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024471	Orphanet:496924	ordo_group_of_disorders|disease_grouping
MONDO:0024474	biolink:Disease	intraepithelial neoplasia	A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. According to the degree of nuclear atypia, number of mitotic figures, and presence of architectural distortion, it is classified as low grade (mild dysplasia) or high grade (moderate or severe dysplasia).	NCIT:C8366	mondo.json	intraepithelial neoplasia|epithelial dysplasia|intraepithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0024474	NCIT:C8366	
MONDO:0024473	biolink:Disease	Astrakhan spotted fever	An infectious disease of the Astrakhan region, Chad, Kosovo, caused by infection with rickettsia conorii subsp. caspia.	DOID:0050041	mondo.json		http://purl.obolibrary.org/obo/MONDO_0024473	DOID:0050041	
MONDO:0012498	biolink:Disease	congenital stationary night blindness autosomal dominant 1	Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene.	OMIM:610445|UMLS:C1864869|MESH:C566474|DOID:0110862	mondo.json	night blindness, congenital stationary, autosomal dominant type 1|RHO congenital stationary night blindness|congenital stationary night blindness caused by mutation in RHO|night blindness, congenital stationary, rhodopsin-related|rhodopsin-related congenital stationary night blindness|night blindness, congenital stationary, autosomal dominant 1|CSNBAD1|congenital stationary night blindness autosomal dominant type 1	http://purl.obolibrary.org/obo/MONDO_0012498	UMLS:C1864869|https://omim.org/entry/610445|http://identifiers.org/mesh/C566474|DOID:0110862	
MONDO:0012499	biolink:Disease	Buruli ulcer, susceptibility to		GARD:0009520|OMIM:610446	mondo.json	Buruli ulcer, susceptibility to|BUD|Mycobacterium ulcerans, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0012499	https://omim.org/entry/610446	predisposition
MONDO:0012496	biolink:Disease	Koolen-de Vries syndrome	A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.	OMIM:610443|UMLS:CN776874|Orphanet:96169|GARD:0010727	mondo.json	KANSL1-related intellectual disability syndrome|microdeletion 17Q21.31 syndrome|chromosome 17Q21.31 deletion syndrome|Koolen-De Vries syndrome|17q21.31 deletion syndrome|chromosome 17q21.31 microdeletion syndrome|Koolen-DE Vries syndrome|microdeletion 17q21.31 syndrome|Koolen de Vries syndrome|KdVS|KDVS|chromosome 17q21.31 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0012496	https://omim.org/entry/610443|Orphanet:96169|UMLS:CN776874	ordo_malformation_syndrome
MONDO:0012497	biolink:Disease	congenital stationary night blindness autosomal dominant 3	A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21.	OMIM:610444|UMLS:C1864870|DOID:0110715|MESH:C566475	mondo.json	CSNBAD3|congenital stationary night blindness autosomal dominant type 3|Nougaret type congenital stationary night blindness|night blindness, congenital stationary, autosomal dominant 3|night blindness, congenital stationary, Nougaret type|night blindness, congenital stationary, autosomal dominant type 3	http://purl.obolibrary.org/obo/MONDO_0012497	UMLS:C1864870|https://omim.org/entry/610444|http://identifiers.org/mesh/C566475|DOID:0110715	
MONDO:0012490	biolink:Disease	cone-rod synaptic disorder, congenital nonprogressive		OMIM:610427|UMLS:C1864877	mondo.json	night blindness, congenital stationary, incomplete, autosomal recessive, formerly|night blindness, congenital stationary, incomplete, autosomal recessive|cone-rod synaptic disorder, congenital nonprogressive|CRSD|night blindness, congenital stationary, type 2B, formerly|night blindness, congenital stationary, type 2B	http://purl.obolibrary.org/obo/MONDO_0012490	UMLS:C1864877|https://omim.org/entry/610427	
ENVO:01001110	biolink:NamedThing	ecosystem	An environmental system which includes both living and non-living components.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001110		
MONDO:0012491	biolink:Disease	macroglobulinemia, Waldenstrom, 2		OMIM:610430	mondo.json	WM2|macroglobulinemia, WALDENSTROM, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0012491	https://omim.org/entry/610430	predisposition
MONDO:0036482	biolink:Disease	retinitis pigmentosa 81		DOID:0080292|OMIM:617871|UMLS:CN802781	mondo.json	RP81|retinitis pigmentosa 81	http://purl.obolibrary.org/obo/MONDO_0036482	DOID:0080292|https://omim.org/entry/617871|UMLS:CN802781	
MONDO:0012494	biolink:Disease	testicular microlithiasis		MESH:C566478|OMIM:610441|HP:0012215|UMLS:C1864873	mondo.json	testicular microlithiasis (disease)|testicular microlithiasis	http://purl.obolibrary.org/obo/MONDO_0012494	UMLS:C1864873|https://omim.org/entry/610441|http://identifiers.org/mesh/C566478	
MONDO:0036483	biolink:Disease	short-rib thoracic dysplasia 18 with polydactyly		OMIM:617866|UMLS:CN795020|DOID:0080293	mondo.json	SRTD18|short-rib thoracic dysplasia 18 with polydactyly	http://purl.obolibrary.org/obo/MONDO_0036483	DOID:0080293|UMLS:CN795020|https://omim.org/entry/617866	
MONDO:0036484	biolink:Disease	Charcot-Marie-Tooth disease, dominant intermediate G		UMLS:CN847583|DOID:0080294|OMIM:617882	mondo.json	Charcot-Marie-Tooth disease dominant intermediate G|CMTDIG|Charcot-Marie-Tooth disease, dominant intermediate G	http://purl.obolibrary.org/obo/MONDO_0036484	UMLS:CN847583|DOID:0080294|https://omim.org/entry/617882	
MONDO:0012495	biolink:Disease	spondyloepimetaphyseal dysplasia, Genevieve type	A rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.	Orphanet:168454|UMLS:C1864872|DOID:0080576|OMIM:610442|GARD:0010057|MESH:C535785	mondo.json	SEMD, Geneviève type|spondyloepimetaphyseal dysplasia Genevieve type|SEMD, Genevieve type|spondyloepimetaphyseal dysplasia, Genevieve type|SEMD Genevieve type|spondyloepimetaphyseal dysplasia, Geneviève type|spondyloepimetaphyseal dysplasia, Camera-Genevieve type|SEMDG|Nans deficiency	http://purl.obolibrary.org/obo/MONDO_0012495	UMLS:C1864872|https://omim.org/entry/610442|DOID:0080576|http://identifiers.org/mesh/C535785|Orphanet:168454	ordo_disease
MONDO:0012492	biolink:Disease	restless legs syndrome, susceptibility to, 3		OMIM:610438|GARD:0010270	mondo.json	restless legs syndrome, susceptibility to, 3|restless legs syndrome 3|RLS3	http://purl.obolibrary.org/obo/MONDO_0012492	https://omim.org/entry/610438	predisposition
MONDO:0012493	biolink:Disease	restless legs syndrome, susceptibility to, 4		OMIM:610439|GARD:0010271	mondo.json	restless legs syndrome, susceptibility to, 4|restless legs syndrome 4|RLS4|RLS 4	http://purl.obolibrary.org/obo/MONDO_0012493	https://omim.org/entry/610439	predisposition
MONDO:0000498	biolink:Disease	arteritic anterior ischemic optic neuropathy	An anterior ischemic neuropathy that is the cause of vision loss that occurs in temporal arteritis (aka giant cell arteritis)	UMLS:C2242711|SCTID:733506009|DOID:0050863	mondo.json	arteritic aion	http://purl.obolibrary.org/obo/MONDO_0000498	http://identifiers.org/snomedct/733506009|UMLS:C2242711|DOID:0050863	
MONDO:0024465	biolink:Disease	surfactant metabolism dysfunction, pulmonary, 2		OMIM:610913|Orphanet:217566|Orphanet:440392|MESH:C567048	mondo.json	surfactant metabolism dysfunction, pulmonary, 2|desquamative interstitial pneumonitis due to surfactant Protein C deficiency|SMDP2|pulmonary alveolar proteinosis, congenital, 2|interstitial lung disease due to surfactant Protein C deficiency	http://purl.obolibrary.org/obo/MONDO_0024465	http://identifiers.org/mesh/C567048|https://omim.org/entry/610913	
HP:0011110	biolink:PhenotypicFeature	Recurrent tonsillitis	Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis.	UMLS:C0040425|MSH:D014069|SNOMEDCT_US:90176007	mondo.json	Recurrent inflammation of tonsils	http://purl.obolibrary.org/obo/HP_0011110		
MONDO:0024464	biolink:Disease	pituitary hormone deficiency, combined, 1	Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene.	UMLS:C2751608|MESH:C567803|GARD:0010601|OMIM:613038	mondo.json	pituitary hormone deficiency, combined or isolated, 1|CPHD1|combined pituitary hormone deficiencies, genetic form caused by mutation in POU1F1|pituitary hormone deficiency, combined, 1|pituitary hormone deficiency, combined 1|POU1F1 combined pituitary hormone deficiencies, genetic form	http://purl.obolibrary.org/obo/MONDO_0024464	UMLS:C2751608|https://omim.org/entry/613038|http://identifiers.org/mesh/C567803	
MONDO:0000497	biolink:Disease	pyometritis	Inflammation of uterine musculature associated with pus in the uterine cavity.	SCTID:88981003|UMLS:C0034215|MESH:D055112|DOID:0050862|NCIT:C121207|UMLS:C0686163	mondo.json	myometrium inflammation|pyometra|inflammation of myometrium	http://purl.obolibrary.org/obo/MONDO_0000497	UMLS:C0034215|http://identifiers.org/snomedct/88981003|NCIT:C121207|http://identifiers.org/mesh/D055112|UMLS:C0686163|DOID:0050862	
MONDO:0024467	biolink:Disease	apocrine sweat gland disorder	A disease that involves the apocrine sweat gland.	ICD10CM:L75	mondo.json	disease of apocrine sweat gland|disease or disorder of apocrine sweat gland|apocrine sweat gland disease|apocrine sweat gland disease or disorder|disorder of apocrine sweat gland	http://purl.obolibrary.org/obo/MONDO_0024467	http://purl.bioontology.org/ontology/ICD10CM/L75	
MONDO:0000496	biolink:Disease	hemorrhagic cystitis	Inflammation of the bladder resulting in bloody urine.	UMLS:C0085692|DOID:0050859|SCTID:87696004|NCIT:C114666	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000496	UMLS:C0085692|http://identifiers.org/snomedct/87696004|DOID:0050859|NCIT:C114666	
MONDO:0024466	biolink:Disease	facial paresis, hereditary congenital, 1		OMIM:601471|UMLS:C1832284	mondo.json	Mobius syndrome 2, formerly|Moebius syndrome 2, formerly|Mobius syndrome 2|Moebius syndrome 2|HCFP1|facial palsy, congenital, unilateral or bilateral|facial paresis, hereditary congenital, 1	http://purl.obolibrary.org/obo/MONDO_0024466	https://omim.org/entry/601471|UMLS:C1832284	
MONDO:0000495	biolink:Disease	oppositional defiant disorder	A behavior disorder characterized by a persistent pattern of defiant, disobedient, and hostile behavior towards authority figures, manifested by a frequent loss of temper, arguing, becoming angry or vindictive, or other negativistic behaviors.	HP:0010865|SCTID:18941000|MESH:D019958|DOID:0050856|ICD9:313.81|NCIT:C92565	mondo.json	oppositional defiant disorder|oppositional defiant disorder (disease)	http://purl.obolibrary.org/obo/MONDO_0000495	http://identifiers.org/mesh/D019958|http://identifiers.org/snomedct/18941000|NCIT:C92565|DOID:0050856	
MONDO:0024469	biolink:Disease	chondrogenic neoplasm	A benign, intermediate, or malignant cartilaginous matrix-producing neoplasm. Representative examples include osteochondroma, chondroblastoma, and chondrosarcoma.	UMLS:C0476147|NCIT:C4755	mondo.json	tumor of the cartilage|tumor of cartilage|cartilaginous tumor|chondromatous neoplasm|neoplasm of the cartilage|chondrogenic tumor|neoplasm of cartilage|chondrogenic neoplasm|chondromatous tumor|cartilaginous neoplasm	http://purl.obolibrary.org/obo/MONDO_0024469	NCIT:C4755|UMLS:C0476147	
ENVO:01001147	biolink:NamedThing	helium planet	A gas planet which has an atmosphere composed primarily of helium.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001147		
MONDO:0024468	biolink:Disease	anterior pituitary gland disorder	A disease that involves the adenohypophysis.	ICD9:253.9|SCTID:51742006|ICD9:253.4	mondo.json	adenohypophysis disease or disorder|disease of adenohypophysis|disorder of anterior pituitary|disorder of adenohypophysis|disorder of anterior pituitary gland|adenohypophysis disease|disease or disorder of adenohypophysis	http://purl.obolibrary.org/obo/MONDO_0024468	http://identifiers.org/snomedct/51742006	
MONDO:0000499	biolink:Disease	non-arteritic anterior ischemic optic neuropathy		Orphanet:415300|DOID:0050864|UMLS:C1852242	mondo.json	nonarteritic anterior ischemic optic neuropathy|non-arteritic aion|NAION	http://purl.obolibrary.org/obo/MONDO_0000499	UMLS:C1852242|Orphanet:415300|DOID:0050864	
MONDO:0000490	biolink:Disease	glomerulosclerosis	A hardening of the kidney glomerulus caused by scarring of the blood vessels.	UMLS:C0178664|DOID:0050851|SCTID:197661001|NCIT:C120888	mondo.json	glomerular sclerosis	http://purl.obolibrary.org/obo/MONDO_0000490	UMLS:C0178664|DOID:0050851|NCIT:C120888|http://identifiers.org/snomedct/197661001	
HP:0001789	biolink:PhenotypicFeature	Hydrops fetalis	The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.	MSH:D015160|UMLS:C0020305|SNOMEDCT_US:276508000	mondo.json		http://purl.obolibrary.org/obo/HP_0001789		
MONDO:0024461	biolink:Disease	angiomatosis	A benign diffuse vascular proliferation usually occurring in young adults. It is characterized by the formation of capillary-sized and cavernous vascular spaces. Patients present with diffuse persistent swelling.	SCTID:205562004|MESH:D000798|NCIT:C27503|UMLS:C0002992	mondo.json	multiple hemangiomas|angiomatosis|diffuse angiomatosis|angiomatoses|diffuse hemangioma	http://purl.obolibrary.org/obo/MONDO_0024461	http://identifiers.org/snomedct/205562004|UMLS:C0002992|http://identifiers.org/mesh/D000798|NCIT:C27503	
MONDO:0000494	biolink:Disease	renal fibrosis	A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis.	EFO:1001517|UMLS:C0151650|DOID:0050855|SCTID:197660000	mondo.json		http://purl.obolibrary.org/obo/MONDO_0000494	UMLS:C0151650|DOID:0050855|http://identifiers.org/snomedct/197660000	
MONDO:0000493	biolink:Disease	obsolete Muckle-Wells syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0000493		
MONDO:0024460	biolink:Disease	obsolete Herpesviridae infections			mondo.json		http://purl.obolibrary.org/obo/MONDO_0024460		
MONDO:0024463	biolink:Disease	ovarian dysgenesis 1		OMIM:233300|DOID:0080493	mondo.json	XX gonadal dysgenesis|ovarian dysgenesis 1|gonadal dysgenesis, 20 type|ovarian dysgenesis, hypergonadotropic, autosomal recessive|gonadal dysgenesis, XX type|ovarian failure, hypergonadotropic|ovarian dysgenesis, hypergonadotropic, with normal karyotype|ODG1|XXGD	http://purl.obolibrary.org/obo/MONDO_0024463	https://omim.org/entry/233300|DOID:0080493	
MONDO:0000492	biolink:Disease	chronic venous insufficiency	Chronic form of venous insufficiency (disease).	DOID:0050853|UMLS:C1306557|EFO:0007940	mondo.json	chronic venous insufficiency (disease)|venous insufficiency (disease), chronic	http://purl.obolibrary.org/obo/MONDO_0000492	UMLS:C1306557|DOID:0050853	
MONDO:0024462	biolink:Disease	familial cutaneous melanoma	An instance of cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome.	OMIMPS:155600	mondo.json	hereditary cutaneous melanoma (disease)	http://purl.obolibrary.org/obo/MONDO_0024462	https://omim.org/phenotypicSeries/PS155600	
MONDO:0000491	biolink:Disease	limb ischemia	A ischemia that involves the limb.	DOID:0050852|SCTID:21631000119105|UMLS:C2945695	mondo.json	ischemic disease of limb|limb ischemia|limb ischemic disease	http://purl.obolibrary.org/obo/MONDO_0000491	http://identifiers.org/snomedct/21631000119105|DOID:0050852|UMLS:C2945695	
MONDO:0012487	biolink:Disease	alopecia-intellectual disability syndrome 2		DOID:0080629|MESH:C563668|UMLS:C1835852|GARD:0004291|OMIM:610422	mondo.json	alopecia intellectual disability syndrome 2|APMR2|alopecia-intellectual disability syndrome 2|alopecia with mild to moderate intellectual deficit|AMR syndrome 2|alopecia-mental retardation syndrome 2	http://purl.obolibrary.org/obo/MONDO_0012487	http://identifiers.org/mesh/C563668|UMLS:C1835852|https://omim.org/entry/610422|DOID:0080629	
MONDO:0012488	biolink:Disease	hepatitis B virus, susceptibility to		OMIM:610424|UMLS:C3552304	mondo.json	hepatitis b virus, susceptibility to|Hepatitis B Virus, resistance to|HBV, resistance to|HBV, susceptibility to|hepatitis B virus infection, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0012488	UMLS:C3552304|https://omim.org/entry/610424	predisposition
MONDO:0012485	biolink:Disease	autosomal recessive nonsyndromic hearing loss 68	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene.	MESH:C563669|DOID:0110519|OMIM:610419|UMLS:C1835854	mondo.json	autosomal recessive deafness 68|autosomal recessive nonsyndromic deafness type 68|DFNB68|S1PR2 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness 68|deafness, autosomal recessive 68|autosomal recessive nonsyndromic deafness caused by mutation in S1PR2	http://purl.obolibrary.org/obo/MONDO_0012485	http://identifiers.org/mesh/C563669|UMLS:C1835854|https://omim.org/entry/610419|DOID:0110519	
MONDO:0012486	biolink:Disease	preauricular tag, isolated, autosomal dominant, 1		MESH:C566904|UMLS:C1968893|OMIM:610420	mondo.json	preauricular Tag, isolated, autosomal dominant, type 1|preauricular tag, isolated, autosomal dominant, 1	http://purl.obolibrary.org/obo/MONDO_0012486	UMLS:C1968893|https://omim.org/entry/610420|http://identifiers.org/mesh/C566904	
HP:0001787	biolink:PhenotypicFeature	Abnormal delivery	An abnormality of the birth process.	SNOMEDCT_US:274127000|UMLS:C0549629	mondo.json	Abnormal delivery|Delivery complication	http://purl.obolibrary.org/obo/HP_0001787		
MONDO:0012489	biolink:Disease	cataract 23	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene.	OMIM:610425|UMLS:C3808012|DOID:0110271|Orphanet:98995	mondo.json	cataract 23, lamellar|cataract 23, multiple types, with or without microcornea|cataract 23|cataract 23, multiple types|CRYBA4 early-onset non-syndromic cataract|cataract type 23|CTRCT23|early-onset non-syndromic cataract caused by mutation in CRYBA4|lamellar cataract 23	http://purl.obolibrary.org/obo/MONDO_0012489	UMLS:C3808012|https://omim.org/entry/610425|DOID:0110271	
ENVO:01001143	biolink:NamedThing	lava planet	A planet which has a surface layer that nearly completely or completely covered by lava, and which has a substantial portion of its mass composed of lava.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01001143		
MONDO:0036491	biolink:Disease	obsolete rare childhood malignant neoplasm	OBSOLETE. An infrequent malignant neoplasm that occurs during childhood.	NCIT:C114451|UMLS:C3828369	mondo.json	rare childhood malignant neoplasm|rare malignant childhood neoplasm|rare childhood cancer|Rare malignant neoplasm	http://purl.obolibrary.org/obo/MONDO_0036491	UMLS:C3828369|NCIT:C114451	obsoletion_candidate
MONDO:0012480	biolink:Disease	diabetes mellitus, transient neonatal, 2	Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the ABCC8 gene.	MESH:C563672|OMIM:610374|UMLS:C1835887|SCTID:609580007	mondo.json	ABCC8 transient neonatal diabetes mellitus (disease)|diabetes mellitus, transient neonatal, 2|diabetes mellitus, transient neonatal, type 2|transient neonatal diabetes mellitus (disease) caused by mutation in ABCC8|diabetes mellitus, transient neonatal 2|Tndm2	http://purl.obolibrary.org/obo/MONDO_0012480	UMLS:C1835887|https://omim.org/entry/610374|http://identifiers.org/snomedct/609580007|http://identifiers.org/mesh/C563672	
MONDO:0012483	biolink:Disease	cone-rod dystrophy 11	Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAX2 gene.	UMLS:C1835865|MESH:C563671|DOID:0111018|OMIM:610381	mondo.json	cone-rod dystrophy caused by mutation in RAX2|cone-rod dystrophy type 11|cone-rod dystrophy 11|RAX2 cone-rod dystrophy|CORD11	http://purl.obolibrary.org/obo/MONDO_0012483	UMLS:C1835865|https://omim.org/entry/610381|DOID:0111018|http://identifiers.org/mesh/C563671	
MONDO:0012484	biolink:Disease	prosopagnosia, hereditary	An instance of prosopagnosia (disease) that is caused by an inherited modification of the individual's genome.	MESH:C537242|GARD:0010035|UMLS:C2931455|OMIM:610382	mondo.json	congenital prosopagnosia|face blindness|prosopagnosia, developmental|prosopagnosia, congenital|hereditary prosopagnosia|prosopagnosia, hereditary|developmental prosopagnosia|hereditary prosopagnosia (disease)	http://purl.obolibrary.org/obo/MONDO_0012484	UMLS:C2931455|https://omim.org/entry/610382|http://identifiers.org/mesh/C537242	
MONDO:0012481	biolink:Disease	mevalonic aciduria	Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.	NCIT:C84890|OMIM:610377|Orphanet:29|GARD:0003588|MedDRA:10072219|SCTID:718558008|DOID:0050452|UMLS:C0398691|UMLS:C1959626	mondo.json	mevalonic aciduria|HIDS|hyperimmunoglobulin D with periodic fever syndrome|complete mevalonate kinase deficiency|Mevalonicaciduria|MVA|MEVA|MKD	http://purl.obolibrary.org/obo/MONDO_0012481	NCIT:C84890|https://omim.org/entry/610377|DOID:0050452|http://identifiers.org/snomedct/718558008|UMLS:C1959626|Orphanet:29	gard_rare|ordo_disease
MONDO:0012482	biolink:Disease	West Nile virus, susceptibility to		OMIM:610379	mondo.json	West Nile virus, susceptibility to|WNV, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0012482	https://omim.org/entry/610379	predisposition
MONDO:0024454	biolink:Disease	sacral nerve plexus disorder	A disease that involves the sacral nerve plexus.	MESH:C537224|GARD:0007597|UMLS:C2931445	mondo.json	disorder of sacral nerve plexus|sacral plexopathy|disease or disorder of sacral nerve plexus|sacral nerve plexus disorder|sacral nerve plexus disease or disorder|disease of sacral nerve plexus	http://purl.obolibrary.org/obo/MONDO_0024454	UMLS:C2931445|http://identifiers.org/mesh/C537224	
MONDO:0024456	biolink:Disease	anterior segment dysgenesis 3	An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)	DOID:0080608|GARD:0002482|Orphanet:98978|Orphanet:91483|GARD:0002978|UMLS:C1839928|MESH:C535535|OMIM:601631	mondo.json	IGDA syndrome|iris hypoplasia with glaucoma|IGDA|FOXC1 iridogoniodysgenesis|ASGD3|iridogoniodysgenesis, type 1|iridogoniodysgenesis type 1|glaucoma iridogoniodysplasia, familial|IRID1|iridogoniodysgenesis anomaly, autosomal dominant|anterior segment dysgenesis 3, multiple subtypes|glaucoma iridogoniodysgenesia|iridogoniodysgenesis caused by mutation in FOXC1|anterior segment dysgenesis 3	http://purl.obolibrary.org/obo/MONDO_0024456	http://identifiers.org/mesh/C535535|https://omim.org/entry/601631|DOID:0080608	gard_rare
MONDO:0024455	biolink:Disease	autosomal dominant Robinow syndrome 1	Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene.	GARD:0002013|UMLS:C0265205|DOID:0060766|OMIM:180700	mondo.json	autosomal dominant Robinow syndrome caused by mutation in WNT5A|DRS1|fetal face syndrome|dysostosis acral with facial and genital abnormalities|Robinow dwarfism|Robinow syndrome, autosomal dominant 1|acral dysostosis with Facial and genital abnormalities|WNT5A autosomal dominant Robinow syndrome	http://purl.obolibrary.org/obo/MONDO_0024455	DOID:0060766|https://omim.org/entry/180700	gard_rare
MONDO:0024458	biolink:Disease	disorder of visual system	A disease that involves the visual system.	SCTID:128127008	mondo.json	visual system disease|disease or disorder of visual system|visual system disease or disorder|disease of visual system|disorder of visual system|visual system disorder	http://purl.obolibrary.org/obo/MONDO_0024458	http://identifiers.org/snomedct/128127008	
ENVO:01001136	biolink:NamedThing	ocean planet	A planet which has a surface layer that nearly completely or completely covered by water, and which has a substantial portion of its mass composed of water.		mondo.json	water world|panthalassic planet|aquaplanet	http://purl.obolibrary.org/obo/ENVO_01001136		
MONDO:0024457	biolink:Disease	neurodegeneration with brain iron accumulation 2A		Orphanet:35069|GARD:0002751|OMIM:256600|SCTID:52713000|ICD9:330.8|GARD:0003957|NCIT:C84927|MESH:C536071|DOID:0110735	mondo.json	KARAK syndrome, included|Hunter-Carpenter-McDonald syndrome|neurodegeneration with brain iron accumulation type 2a|neurodegeneration, Pla2g6-associated|neurodegeneration with brain iron accumulation 2A|Hunter Carpenter Macdonald syndrome|infantile neuroaxonal dystrophy|NBIA2A|neurodegeneration with brain iron accumulation type 2A|neurodegeneration, Pla2G6-associated|neurodegeneration, PLA2G6-associated|infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy|phospholipase A2-associated neurodegeneration|neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene|infantile neuroaxonal dystrophy 1|Seitelberger disease|PLAN|inaD|neuroaxonal dystrophy, infantile|INAD1	http://purl.obolibrary.org/obo/MONDO_0024457	http://identifiers.org/snomedct/52713000|DOID:0110735|Orphanet:35069|NCIT:C84927|https://omim.org/entry/256600|http://identifiers.org/mesh/C536071	ordo_disease|gard_rare
ENVO:01001135	biolink:NamedThing	desert planet	A terrestrial planet which has a surface dominated by hot deserts.		mondo.json	dry planet	http://purl.obolibrary.org/obo/ENVO_01001135		
ENVO:01001138	biolink:NamedThing	carbon dioxide ice	Ice which is primarily composed of carbon dioxide.		mondo.json	dry ice	http://purl.obolibrary.org/obo/ENVO_01001138		
MONDO:0024459	biolink:Disease	Aeromonas hydrophila intestinal disease		SCTID:446988001|ICD9:008.47|UMLS:C2960005	mondo.json	intestinal infection due to Aeromonas hydrophila|intestinal infection caused by Aeromonas hydrophila	http://purl.obolibrary.org/obo/MONDO_0024459	UMLS:C2960005|http://identifiers.org/snomedct/446988001	
ENVO:01001137	biolink:NamedThing	ice planet	A planet which has a surface layer that nearly completely or completely covered by ice, and which has a substantial portion of its mass composed of ice.		mondo.json	cryoplanet	http://purl.obolibrary.org/obo/ENVO_01001137		
MONDO:0012476	biolink:Disease	hereditary spastic paraplegia 30	Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.	Orphanet:101010|OMIM:610357|DOID:0110781|SCTID:763377006|MESH:C563677|UMLS:C1835896	mondo.json	autosomal recessive spastic paraplegia 30|spastic paraplegia 30, autosomal recessive|autosomal spastic paraplegia type 30|KIF1A hereditary spastic paraplegia|SPG30|hereditary spastic paraplegia caused by mutation in KIF1A|spastic paraplegia 30, autosomal dominant|hereditary spastic paraplegia type 30	http://purl.obolibrary.org/obo/MONDO_0012476	DOID:0110781|http://identifiers.org/mesh/C563677|Orphanet:101010|UMLS:C1835896|https://omim.org/entry/610357|http://identifiers.org/snomedct/763377006	ordo_disease
MONDO:0012477	biolink:Disease	retinitis pigmentosa 33	Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene.	DOID:0110366|ICD10CM:H35.5|MESH:C563676|OMIM:610359|UMLS:C1835895|GARD:0010400	mondo.json	retinitis pigmentosa 33|retinitis pigmentosa caused by mutation in SNRNP200|SNRNP200 retinitis pigmentosa|RP 33|retinitis pigmentosa type 33|RP33	http://purl.obolibrary.org/obo/MONDO_0012477	http://identifiers.org/mesh/C563676|UMLS:C1835895|https://omim.org/entry/610359|DOID:0110366	gard_rare
MONDO:0012474	biolink:Disease	autosomal dominant nocturnal frontal lobe epilepsy 4	Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene.	MESH:C563679|OMIM:610353|UMLS:C1835905|DOID:0060685	mondo.json	ENFL4|autosomal dominant nocturnal frontal lobe epilepsy type 4|epilepsy, nocturnal frontal lobe, 4|nocturnal frontal lobe epilepsy 4|seizures, benign familial infantile, 6|CHRNA2 autosomal dominant nocturnal frontal lobe epilepsy|epilepsy, familial, with nocturnal wandering and Ictal fear|autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA2|epilepsy, nocturnal frontal lobe, type 4|convulsions, benign familial infantile, 6	http://purl.obolibrary.org/obo/MONDO_0012474	http://identifiers.org/mesh/C563679|DOID:0060685|UMLS:C1835905|https://omim.org/entry/610353	
HP:0001792	biolink:PhenotypicFeature	Small nail	A nail that is diminished in length and width, i.e., underdeveloped nail.	UMLS:C0263523|SNOMEDCT_US:11375002	mondo.json	Nail hypoplasia|Hypoplastic nails|Small nails|Small nail|Hypoplastic nail	http://purl.obolibrary.org/obo/HP_0001792		
MONDO:0012475	biolink:Disease	cone dystrophy with supernormal rod response	Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.	SCTID:719455002|UMLS:C4304714|GARD:0010649|UMLS:C1835897|MESH:C563678|Orphanet:209932|OMIM:610356	mondo.json	cone dystrophy with supernormal rod electroretinogram|RCD3B|cone dystrophy with supernormal rod ERG|cone dystrophy with night blindness and supernormal rod responses KCNV2 related|cone dystrophy with supernormal scotopic electroretinogram|retinal cone dystrophy type 3B|cone dystrophy with night blindness and supernormal Rod responses, Kcnv2-related|cone dystrophy with supernormal Rod responses|cone dystrophy with supernormal rod response|retinal cone dystrophy 3B	http://purl.obolibrary.org/obo/MONDO_0012475	http://identifiers.org/mesh/C563678|UMLS:C1835897|https://omim.org/entry/610356|UMLS:C4304714|Orphanet:209932|http://identifiers.org/snomedct/719455002	ordo_disease
MONDO:0012478	biolink:Disease	orofacial cleft 9		OMIM:610361|UMLS:C1835894|DOID:0080402|MESH:C563675	mondo.json	orofacial cleft 9|OFC9|cleft lip with or without cleft palate, nonsyndromic, 9	http://purl.obolibrary.org/obo/MONDO_0012478	http://identifiers.org/mesh/C563675|UMLS:C1835894|https://omim.org/entry/610361|DOID:0080402	
MONDO:0012479	biolink:Disease	congenital malabsorptive diarrhea 4	Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported.	SCTID:722392003|Orphanet:83620|DOID:0060779|OMIM:610370|MESH:C563673|UMLS:C1835888	mondo.json	congenital malabsorptive diarrhea type 4|congenital malabsorptive diarrhea due to paucity of enteroendocrine cells|diarrhea 4, malabsorptive, congenital|enteric anendocrinosis|NEUROG3 congenital diarrhea|congenital diarrhea caused by mutation in NEUROG3|DIAR4	http://purl.obolibrary.org/obo/MONDO_0012479	Orphanet:83620|http://identifiers.org/mesh/C563673|DOID:0060779|UMLS:C1835888|https://omim.org/entry/610370|http://identifiers.org/snomedct/722392003	ordo_disease
HP:0011107	biolink:PhenotypicFeature	Recurrent aphthous stomatitis	Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.	SNOMEDCT_US:110426005|SNOMEDCT_US:427617000|MSH:D013281|UMLS:C0038363|SNOMEDCT_US:426965005|UMLS:C2937365|SNOMEDCT_US:398870000	mondo.json	Recurrent oral aphthae|Buccal aphthous ulcers|Aphthous stomatitis|Recurrent canker sores|Recurrent aphthous ulcers	http://purl.obolibrary.org/obo/HP_0011107		
MONDO:0012472	biolink:Disease	Aicardi-Goutieres syndrome 4	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene.	UMLS:C1835912|GARD:0010896|OMIM:610333|MESH:C563681	mondo.json	Aicardi-Goutieres syndrome 4|Aicardi-Goutieres syndrome caused by mutation in RNASEH2A|RNASEH2A-related Aicardi-Goutieres syndrome|AGS4|Aicardi-Goutieres syndrome type 4|RNASEH2A Aicardi-Goutieres syndrome	http://purl.obolibrary.org/obo/MONDO_0012472	http://identifiers.org/mesh/C563681|UMLS:C1835912|https://omim.org/entry/610333	
MONDO:0012473	biolink:Disease	right pulmonary artery, anomalous origin of, familial		MESH:C535681|OMIM:610338|UMLS:C1835910|GARD:0010146	mondo.json	familial anomalous origin of right pulmonary artery|familial ARPA|Arpa, familial|ARPA familial|anomalous origin of right pulmonary artery familial|right pulmonary artery, anomalous origin of, familial|right pulmonary artery, anomalous origin of, with ventricular septal defect, patent Foramen ovale, and patent ductus arteriosus	http://purl.obolibrary.org/obo/MONDO_0012473	UMLS:C1835910|https://omim.org/entry/610338|http://identifiers.org/mesh/C535681	gard_rare
MONDO:0012470	biolink:Disease	prostate cancer, hereditary, 7		UMLS:C1853195|MESH:C565201|OMIM:610321	mondo.json	prostate cancer aggressiveness|HPC7|prostate cancer, hereditary, 7	http://purl.obolibrary.org/obo/MONDO_0012470	https://omim.org/entry/610321|http://identifiers.org/mesh/C565201|UMLS:C1853195	
MONDO:0012471	biolink:Disease	Aicardi-Goutieres syndrome 3	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene.	UMLS:C1835916|OMIM:610329|GARD:0010895|MESH:C563683	mondo.json	Aicardi-Goutieres syndrome caused by mutation in RNASEH2C|RNASEH2C -related Aicardi-Goutieres syndrome|RNASEH2C Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome type 3|AGS3|Aicardi-Goutieres syndrome 3	http://purl.obolibrary.org/obo/MONDO_0012471	http://identifiers.org/mesh/C563683|UMLS:C1835916|https://omim.org/entry/610329	
CHR:9606-chr2q31	biolink:NamedThing	2q31 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr2q31		
CHR:9606-chr2q35	biolink:NamedThing	2q35 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr2q35		
CHR:9606-chr2q33	biolink:NamedThing	2q33 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr2q33		
CHR:9606-chr2q37	biolink:NamedThing	2q37 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr2q37		
CHEBI:77307	biolink:ChemicalSubstance	cardioprotective agent	Any protective agent that is able to prevent damage to the heart.		mondo.json	cardioprotective agents	http://purl.obolibrary.org/obo/CHEBI_77307		
MONDO:0024498	biolink:Disease	glioma susceptibility 1		OMIM:137800|UMLS:C0206725|Orphanet:360|UMLS:C0004114|Orphanet:251630|UMLS:C0014474|Orphanet:301|UMLS:C1621958|Orphanet:251627|Orphanet:94	mondo.json	glioblastoma, somatic|glioma susceptibility 1, autosomal dominant, somatic mutation|astrocytoma|glioma susceptibility 1|glioblastoma multiforme|glioma of brain, familial|ependymoma|subependymoma|glioma, susceptibility to, somatic|GLM1|oligodendroglioma	http://purl.obolibrary.org/obo/MONDO_0024498	https://omim.org/entry/137800	predisposition
MONDO:0024497	biolink:Disease	tumor grade 3 or 4, general grading system	Used to describe tumor samples that exhibit poorly differentiated or undifferentiated cells. They are generally expected to be fast growing and aggressive.	NCIT:C14158	mondo.json	high grade|grade 3/4	http://purl.obolibrary.org/obo/MONDO_0024497	NCIT:C14158	
MONDO:0024499	biolink:Disease	vascular bone neoplasm	A benign, intermediate, or malignant vascular neoplasm that arises from the bone.	NCIT:C6478|UMLS:C1336946	mondo.json	osseous vascular neoplasm|osseous vascular tumor|bone vascular neoplasm|vascular bone neoplasm|vascular neoplasm of bone|vascular neoplasm of the bone|vascular tumor of bone|bone vascular tumor|vascular tumor of the bone	http://purl.obolibrary.org/obo/MONDO_0024499	UMLS:C1336946|NCIT:C6478	
HP:0011146	biolink:PhenotypicFeature	Dialeptic seizure	A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event.		mondo.json	Unknown onset behavioural arrest seizure with impairment of awareness|Unknown onset behavioral arrest seizure with impairment of awareness|Behavioral arrest seizure with impairment of awareness irrespective of onset|Behavioural arrest seizure with impairment of awareness irrespective of onset	http://purl.obolibrary.org/obo/HP_0011146		
CHR:9606-chr2q24	biolink:NamedThing	2q24 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr2q24		
HP:0011147	biolink:PhenotypicFeature	Typical absence seizure	A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.	MSH:D004832|SNOMEDCT_US:432241000124101|SNOMEDCT_US:79631006|SNOMEDCT_US:50866000|UMLS:C0014553|SNOMEDCT_US:230413002	mondo.json	Typical absence|Typical absence seizures	http://purl.obolibrary.org/obo/HP_0011147		
CHR:9606-chr2q22	biolink:NamedThing	2q22 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr2q22		
CHR:9606-chr2q23	biolink:NamedThing	2q23 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr2q23		
MONDO:0024490	biolink:Disease	tumor grade X, general grading system			mondo.json	undetermined grade	http://purl.obolibrary.org/obo/MONDO_0024490		
MONDO:0024492	biolink:Disease	tumor grade 2, general grading system	A morphologic qualifier indicating that a cancerous lesion is moderately differentiated.	EFO:0005746|NCIT:C28078	mondo.json	moderately differentiated|intermediate grade|grade 2|grade II|G2	http://purl.obolibrary.org/obo/MONDO_0024492	NCIT:C28078	
MONDO:0024491	biolink:Disease	tumor grade 1, general grading system	A morphologic qualifier indicating that a cancerous lesion is well differentiated.	LOINC:LA9629-2|NCIT:C28077|UMLS:C0475269	mondo.json	well differentiated|grade I|low grade|grade 1|G1	http://purl.obolibrary.org/obo/MONDO_0024491	UMLS:C0475269|NCIT:C28077	
MONDO:0024494	biolink:Disease	tumor grade 4, general grading system	A morphologic qualifier indicating that a cancerous lesion is undifferentiated.	NCIT:C28082	mondo.json	grade 4|G4|high grade|grade IV|undifferentiated	http://purl.obolibrary.org/obo/MONDO_0024494	NCIT:C28082	
MONDO:0024493	biolink:Disease	tumor grade 3, general grading system	A morphologic qualifier indicating that a cancerous lesion is poorly differentiated.	NCIT:C28079|UMLS:C0475271	mondo.json	poorly differentiated|grade III|high grade|grade 3|G3	http://purl.obolibrary.org/obo/MONDO_0024493	UMLS:C0475271|NCIT:C28079	
MONDO:0024496	biolink:Disease	tumor grade 2 or 3, general grading system	A morphologic qualifier indicating that a neoplastic lesion is moderately to poorly differentiated.	NCIT:C94678	mondo.json	grade 2/3	http://purl.obolibrary.org/obo/MONDO_0024496	NCIT:C94678	
MONDO:0024495	biolink:Disease	tumor grade 1 or 2, general grading system			mondo.json	grade 1/2	http://purl.obolibrary.org/obo/MONDO_0024495		
NCBITaxon:121229	biolink:OrganismalEntity	Pthiridae		GC_ID:1	mondo.json	Phthiridae|pubic lice	http://purl.obolibrary.org/obo/NCBITaxon_121229		
NCBITaxon:121228	biolink:OrganismalEntity	Pthirus pubis		GC_ID:1	mondo.json	genital louse|crab louse|Phtirus pubis|Phthirus pubis|public louse	http://purl.obolibrary.org/obo/NCBITaxon_121228		
NCBITaxon:121227	biolink:OrganismalEntity	Pthirus		GC_ID:1	mondo.json	Phthirus|Phtirus	http://purl.obolibrary.org/obo/NCBITaxon_121227		
NCBITaxon:121222	biolink:OrganismalEntity	Pediculus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_121222		
NCBITaxon:121221	biolink:OrganismalEntity	Pediculidae		GC_ID:1	mondo.json	primate body lice|body lice	http://purl.obolibrary.org/obo/NCBITaxon_121221		
NCBITaxon:121226	biolink:OrganismalEntity	Pediculus humanus capitis		PMID:23049889|GC_ID:1|PMID:18434207	mondo.json	Pediculus capitis|human head louse|human head lice	http://purl.obolibrary.org/obo/NCBITaxon_121226		
NCBITaxon:121225	biolink:OrganismalEntity	Pediculus humanus		PMID:23049889|GC_ID:1|PMID:18434207	mondo.json	human lice|human louse|head lice|body lice	http://purl.obolibrary.org/obo/NCBITaxon_121225		
NCBITaxon:121224	biolink:OrganismalEntity	Pediculus humanus corporis		PMID:23049889|GC_ID:1|PMID:18434207	mondo.json	human body lice|human body louse|Pediculus humanus humanus	http://purl.obolibrary.org/obo/NCBITaxon_121224		
GO:0006144	biolink:NamedThing	purine nucleobase metabolic process	The chemical reactions and pathways involving purine nucleobases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, which include adenine and guanine.		mondo.json	purine base metabolic process|purine metabolic process|purine base metabolism|purine metabolism	http://purl.obolibrary.org/obo/GO_0006144		
GO:0006142	biolink:NamedThing	regulation of pyrimidine nucleobase metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases.		mondo.json	regulation of pyrimidine base metabolic process|regulation of pyrimidine base metabolism	http://purl.obolibrary.org/obo/GO_0006142		
GO:0006140	biolink:NamedThing	regulation of nucleotide metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleotides.		mondo.json	regulation of nucleotide metabolism	http://purl.obolibrary.org/obo/GO_0006140		
GO:0006141	biolink:NamedThing	regulation of purine nucleobase metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving purines.		mondo.json	regulation of purine base metabolic process|regulation of purine base metabolism	http://purl.obolibrary.org/obo/GO_0006141		
GO:0045759	biolink:NamedThing	negative regulation of action potential	Any process that stops, prevents, or reduces the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels.		mondo.json	down regulation of action potential|inhibition of action potential|down-regulation of action potential|downregulation of action potential	http://purl.obolibrary.org/obo/GO_0045759		
GO:0033764	biolink:NamedThing	steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group acts as a hydrogen or electron donor and reduces NAD+ or NADP, and in which one substrate is a sterol derivative.		mondo.json		http://purl.obolibrary.org/obo/GO_0033764		
CHR:9606-chr17p	biolink:NamedThing	17p (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr17p		
CHR:9606-chr17q	biolink:NamedThing	17q (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr17q		
GO:0045765	biolink:NamedThing	regulation of angiogenesis	Any process that modulates the frequency, rate or extent of angiogenesis.		mondo.json		http://purl.obolibrary.org/obo/GO_0045765		
GO:0045766	biolink:NamedThing	positive regulation of angiogenesis	Any process that activates or increases angiogenesis.		mondo.json	stimulation of angiogenesis|up regulation of angiogenesis|activation of angiogenesis|up-regulation of angiogenesis|upregulation of angiogenesis	http://purl.obolibrary.org/obo/GO_0045766		
GO:0045763	biolink:NamedThing	negative regulation of cellular amino acid metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amino acid.		mondo.json	inhibition of amino acid metabolic process|down-regulation of amino acid metabolic process|negative regulation of amino acid metabolism|downregulation of amino acid metabolic process|down regulation of amino acid metabolic process	http://purl.obolibrary.org/obo/GO_0045763		
GO:0045764	biolink:NamedThing	positive regulation of cellular amino acid metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amino acid.		mondo.json	upregulation of amino acid metabolic process|positive regulation of amino acid metabolism|up regulation of amino acid metabolic process|stimulation of amino acid metabolic process|activation of amino acid metabolic process|up-regulation of amino acid metabolic process	http://purl.obolibrary.org/obo/GO_0045764		
GO:0045760	biolink:NamedThing	positive regulation of action potential	Any process that activates or increases the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels.		mondo.json	up regulation of action potential|stimulation of action potential|up-regulation of action potential|activation of action potential|upregulation of action potential	http://purl.obolibrary.org/obo/GO_0045760		
CHR:9606-chr18p	biolink:NamedThing	18p (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr18p		
CHR:9606-chr18q	biolink:NamedThing	18q (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr18q		
GO:0018130	biolink:NamedThing	heterocycle biosynthetic process	The chemical reactions and pathways resulting in the formation of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings).		mondo.json	heterocycle anabolism|heterocycle biosynthesis|heterocycle synthesis|heterocycle formation	http://purl.obolibrary.org/obo/GO_0018130		
FOODON:03400217	biolink:NamedThing	meat, poultry, seafood or related product (us cfr)	Products of the flesh of animals. [FDA CFSAN 1995]	http://www.langual.org/langual_thesaurus.asp?termid=A0217	mondo.json		http://purl.obolibrary.org/obo/FOODON_03400217		
CHR:9606-chr7q11.23	biolink:NamedThing	7q11.23 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr7q11.23		
HGNC:21580	biolink:NamedThing	KIAA0319			mondo.json		http://identifiers.org/hgnc/21580		
CHR:9606-chr15q	biolink:NamedThing	15q (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr15q		
GO:0045778	biolink:NamedThing	positive regulation of ossification	Any process that activates or increases the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance.		mondo.json	positive regulation of bone formation|positive regulation of bone biosynthesis|upregulation of ossification|stimulation of ossification|up regulation of ossification|activation of ossification|up-regulation of ossification	http://purl.obolibrary.org/obo/GO_0045778		
GO:0045779	biolink:NamedThing	negative regulation of bone resorption	Any process that stops, prevents, or reduces the frequency, rate or extent of bone resorption.		mondo.json	down-regulation of bone resorption|down regulation of bone resorption|downregulation of bone resorption|inhibition of bone resorption	http://purl.obolibrary.org/obo/GO_0045779		
FOODON:03400229	biolink:NamedThing	beverage (us cfr)	Alcoholic or nonalcoholic beverage; excludes milk and milk-based beverages, fruit juices and fruit juice drinks, and vegetable juices. [FDA CFSAN 1995]	http://www.langual.org/langual_thesaurus.asp?termid=A0229	mondo.json		http://purl.obolibrary.org/obo/FOODON_03400229		
FOODON:03412215	biolink:NamedThing	mud crab family	Mud crab may refer to any crab that lives in or near mud, such as: species from family *Portunidae*, such as *Scylla serrata*; *Scylla tranquebarica*; *Scylla paramamosain*; members of the family *Panopeidae*, such as *Panopeus herbstii*; members of the family *Xanthidae*; *Helice crassa*, the tunnelling mud crab. [https://en.wikipedia.org/wiki/Mud_crab]		mondo.json		http://purl.obolibrary.org/obo/FOODON_03412215		
UBERON:7500062	biolink:AnatomicalEntity	tibial tuberosity			mondo.json		http://purl.obolibrary.org/obo/UBERON_7500062		
GO:0045780	biolink:NamedThing	positive regulation of bone resorption	Any process that activates or increases the frequency, rate or extent of bone resorption.		mondo.json	up-regulation of bone resorption|up regulation of bone resorption|activation of bone resorption|stimulation of bone resorption|upregulation of bone resorption	http://purl.obolibrary.org/obo/GO_0045780		
GO:0006139	biolink:NamedThing	nucleobase-containing compound metabolic process	Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids.		mondo.json	cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolism|nucleobase, nucleoside and nucleotide metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolism|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	http://purl.obolibrary.org/obo/GO_0006139		
GO:0045787	biolink:NamedThing	positive regulation of cell cycle	Any process that activates or increases the rate or extent of progression through the cell cycle.		mondo.json	stimulation of progression through cell cycle|up-regulation of progression through cell cycle|positive regulation of cell cycle progression|activation of progression through cell cycle|upregulation of progression through cell cycle|positive regulation of progression through cell cycle|up regulation of progression through cell cycle	http://purl.obolibrary.org/obo/GO_0045787		
GO:0043124	biolink:NamedThing	negative regulation of I-kappaB kinase/NF-kappaB signaling	Any process that stops, prevents, or reduces the frequency, rate or extent of -kappaB kinase/NF-kappaB signaling.		mondo.json	downregulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of I-kappaB kinase/NF-kappaB cascade|down-regulation of I-kappaB kinase/NF-kappaB cascade|inhibition of I-kappaB kinase/NF-kappaB cascade|down regulation of I-kappaB kinase/NF-kappaB cascade	http://purl.obolibrary.org/obo/GO_0043124		
GO:0043123	biolink:NamedThing	positive regulation of I-kappaB kinase/NF-kappaB signaling	Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling.		mondo.json	up-regulation of I-kappaB kinase/NF-kappaB cascade|stimulation of I-kappaB kinase/NF-kappaB cascade|up regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|upregulation of I-kappaB kinase/NF-kappaB cascade|activation of I-kappaB kinase/NF-kappaB cascade	http://purl.obolibrary.org/obo/GO_0043123		
GO:0045785	biolink:NamedThing	positive regulation of cell adhesion	Any process that activates or increases the frequency, rate or extent of cell adhesion.		mondo.json	up-regulation of cell adhesion|up regulation of cell adhesion|activation of cell adhesion|stimulation of cell adhesion|upregulation of cell adhesion	http://purl.obolibrary.org/obo/GO_0045785		
GO:0045786	biolink:NamedThing	negative regulation of cell cycle	Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle.		mondo.json	downregulation of progression through cell cycle|down regulation of progression through cell cycle|inhibition of progression through cell cycle|down-regulation of progression through cell cycle|negative regulation of progression through cell cycle|negative regulation of cell cycle progression	http://purl.obolibrary.org/obo/GO_0045786		
GO:0043122	biolink:NamedThing	regulation of I-kappaB kinase/NF-kappaB signaling	Any process that modulates I-kappaB kinase/NF-kappaB signaling.		mondo.json	regulation of I-kappaB kinase/NF-kappaB cascade	http://purl.obolibrary.org/obo/GO_0043122		
GO:0070727	biolink:NamedThing	cellular macromolecule localization	Any process in which a macromolecule is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell.		mondo.json	cellular macromolecule localisation	http://purl.obolibrary.org/obo/GO_0070727		
GO:0043129	biolink:NamedThing	surfactant homeostasis	Any process involved in the maintenance of a steady-state level of the surface-active lipoprotein mixture which coats the alveoli.		mondo.json		http://purl.obolibrary.org/obo/GO_0043129		
GO:0055103	biolink:NamedThing	ligase regulator activity	Binds to and modulates the activity of a ligase.		mondo.json		http://purl.obolibrary.org/obo/GO_0055103		
NCBITaxon:7088	biolink:OrganismalEntity	Lepidoptera		GC_ID:1	mondo.json	moths|butterflies and moths|moths	http://purl.obolibrary.org/obo/NCBITaxon_7088		
CHR:9606-chr16p	biolink:NamedThing	16p (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr16p		
CHR:9606-chr16q	biolink:NamedThing	16q (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr16q		
GO:0006109	biolink:NamedThing	regulation of carbohydrate metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving carbohydrates.		mondo.json	regulation of carbohydrate metabolism	http://purl.obolibrary.org/obo/GO_0006109		
GO:0055117	biolink:NamedThing	regulation of cardiac muscle contraction	Any process that modulates the frequency, rate or extent of cardiac muscle contraction.		mondo.json		http://purl.obolibrary.org/obo/GO_0055117		
GO:0055118	biolink:NamedThing	negative regulation of cardiac muscle contraction	Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle contraction.		mondo.json		http://purl.obolibrary.org/obo/GO_0055118		
UBERON:0005704	biolink:AnatomicalEntity	secondary palatal shelf mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005704		
GO:0006101	biolink:NamedThing	citrate metabolic process	The chemical reactions and pathways involving citrate, 2-hydroxy-1,2,3-propanetricarboyxlate. Citrate is widely distributed in nature and is an important intermediate in the TCA cycle and the glyoxylate cycle.		mondo.json	citrate metabolism	http://purl.obolibrary.org/obo/GO_0006101		
UBERON:7500094	biolink:AnatomicalEntity	tubercle of calcaneus			mondo.json		http://purl.obolibrary.org/obo/UBERON_7500094		
HP:0040290	biolink:PhenotypicFeature	obsolete Abnormality of skeletal muscles			mondo.json		http://purl.obolibrary.org/obo/HP_0040290		
GO:0055114	biolink:NamedThing	obsolete oxidation-reduction process	OBSOLETE. A metabolic process that results in the removal or addition of one or more electrons to or from a substance, with or without the concomitant removal or addition of a proton or protons.		mondo.json	oxidation reduction|oxidoreductase process	http://purl.obolibrary.org/obo/GO_0055114		
UBERON:0005712	biolink:AnatomicalEntity	midgut duodenum mesentery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005712		
UBERON:0005711	biolink:AnatomicalEntity	foregut duodenum mesentery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005711		
HGNC:33551	biolink:NamedThing	NDUFAF8			mondo.json		http://identifiers.org/hgnc/33551		
HGNC:21576	biolink:NamedThing	NHLRC1			mondo.json		http://identifiers.org/hgnc/21576		
GO:0006119	biolink:NamedThing	oxidative phosphorylation	The phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis.		mondo.json	respiratory-chain phosphorylation	http://purl.obolibrary.org/obo/GO_0006119		
HGNC:21575	biolink:NamedThing	AHI1			mondo.json		http://identifiers.org/hgnc/21575		
GO:0006111	biolink:NamedThing	regulation of gluconeogenesis	Any process that modulates the frequency, rate or extent of gluconeogenesis, the formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol.		mondo.json	regulation of gluconeogenesis involved in cellular glucose homeostasis|regulation of glucose biosynthesis|regulation of glucose biosynthetic process	http://purl.obolibrary.org/obo/GO_0006111		
GO:0006112	biolink:NamedThing	energy reserve metabolic process	The chemical reactions and pathways by which a cell derives energy from stored compounds such as fats or glycogen.		mondo.json	energy reserve metabolism	http://purl.obolibrary.org/obo/GO_0006112		
MONDO:0043494	biolink:Disease	arteritis	An inflammatory process affecting an artery.	HP:0012089|EFO:0009011|NCIT:C34399|MESH:D001167|SCTID:52089001	mondo.json	inflammation of artery|arterial Inflammation|arteritis|Inflammation, arterial|Arteritides|artery inflammation	http://purl.obolibrary.org/obo/MONDO_0043494	NCIT:C34399|http://identifiers.org/mesh/D001167|http://identifiers.org/snomedct/52089001	
GO:0006110	biolink:NamedThing	regulation of glycolytic process	Any process that modulates the frequency, rate or extent of glycolysis.		mondo.json	regulation of glycolysis involved in cellular glucose homeostasis	http://purl.obolibrary.org/obo/GO_0006110		
GO:0043143	biolink:NamedThing	regulation of translation by machinery localization	Any process in which proteins and protein complexes involved in translation are transported to, or maintained in, a specific location.		mondo.json	translational protein localization|establishment and maintenance of translational machinery localization|regulation of translation by machinery localisation|establishment and maintenance of translational protein localization|translational machinery localization	http://purl.obolibrary.org/obo/GO_0043143		
UBERON:0005702	biolink:AnatomicalEntity	optic eminence mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005702		
GO:0055127	biolink:NamedThing	vibrational conductance of sound to the inner ear	The transmission of vibrations via ossicles to the inner ear.		mondo.json		http://purl.obolibrary.org/obo/GO_0055127		
GO:0055123	biolink:NamedThing	digestive system development	The process whose specific outcome is the progression of the digestive system over time, from its formation to the mature structure. The digestive system is the entire structure in which digestion takes place. Digestion is all of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism.		mondo.json		http://purl.obolibrary.org/obo/GO_0055123		
NCBITaxon:92251	biolink:OrganismalEntity	Trombiculidae		GC_ID:1	mondo.json	redbugs|harvest mites|chiggers	http://purl.obolibrary.org/obo/NCBITaxon_92251		
CHR:9606-chr19p	biolink:NamedThing	19p (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr19p		
CHR:9606-chr19q	biolink:NamedThing	19q (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr19q		
HGNC:1606	biolink:NamedThing	CCR5			mondo.json		http://identifiers.org/hgnc/1606		
GO:0008757	biolink:NamedThing	S-adenosylmethionine-dependent methyltransferase activity	Catalysis of the transfer of a methyl group from S-adenosyl-L-methionine to a substrate.		mondo.json	S-adenosyl methionine-dependent methyltransferase activity|SAM-dependent methyltransferase activity	http://purl.obolibrary.org/obo/GO_0008757		
HGNC:21555	biolink:NamedThing	EYS			mondo.json		http://identifiers.org/hgnc/21555		
HGNC:21558	biolink:NamedThing	RSPH4A			mondo.json		http://identifiers.org/hgnc/21558		
GO:0043168	biolink:NamedThing	anion binding	Binding to an anion, a charged atom or group of atoms with a net negative charge.		mondo.json		http://purl.obolibrary.org/obo/GO_0043168		
GO:0043167	biolink:NamedThing	ion binding	Binding to an ion, a charged atoms or groups of atoms.		mondo.json	atom binding	http://purl.obolibrary.org/obo/GO_0043167		
MONDO:0018480	biolink:Disease	carcinoma of esophagus, salivary gland type		Orphanet:418945|UMLS:CN237468	mondo.json	esophageal carcinoma, salivary gland type	http://purl.obolibrary.org/obo/MONDO_0018480	Orphanet:418945|UMLS:CN237468	ordo_disease
MONDO:0018482	biolink:Disease	obsolete squamous cell carcinoma of stomach			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018482		
MONDO:0018481	biolink:Disease	undifferentiated carcinoma of esophagus	An esophageal carcinoma characterized by the absence of microscopic features of squamous differentiation. However, there is immunohistochemical evidence of squamous differentiation.	Orphanet:418951|UMLS:CN237469|NCIT:C27422|UMLS:C2188058	mondo.json	undifferentiated esophageal carcinoma|undifferentiated esophageal cancer|esophageal undifferentiated carcinoma|esophagus undifferentiated carcinoma	http://purl.obolibrary.org/obo/MONDO_0018481	NCIT:C27422|Orphanet:418951|UMLS:C2188058|UMLS:CN237469	ordo_disease
MONDO:0006499	biolink:Disease	hamartoma	A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern.	NCIT:C3075|ICD9:759.6|MESH:D006222|HP:0010566|UMLS:C0018552|EFO:1000634|SCTID:400006008	mondo.json	hamartoma (disease)|hamartoma	http://purl.obolibrary.org/obo/MONDO_0006499	http://identifiers.org/snomedct/400006008|http://identifiers.org/mesh/D006222|UMLS:C0018552|NCIT:C3075	
MONDO:0006497	biolink:Disease	cerebral palsy	A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain.	ICD10CM:G80|HP:0100021|ICD9:343.8|GARD:0010450|NCIT:C34460|DOID:1969|CSP:0723-4729|UMLS:C0007789|MESH:D002547|ICD9:343.9|EFO:1000632|SCTID:128188000	mondo.json	infantile cerebral palsy	http://purl.obolibrary.org/obo/MONDO_0006497	NCIT:C34460|http://identifiers.org/snomedct/128188000|http://purl.bioontology.org/ontology/ICD10CM/G80|UMLS:C0007789|DOID:1969|http://identifiers.org/mesh/D002547	
MONDO:0006498	biolink:Disease	adenomatous colon polyp	A polypoid adenoma that arises from and protrudes into the lumen of the colon. Epithelial dysplasia is always present. According to the architectural pattern it is classified as tubular, tubulovillous, or villous.	SCTID:428054006|NCIT:C96479|EFO:1000633|HP:0005227	mondo.json	colonic adenomatous polyp|adenomatous polyp of the colon|colon adenomatous polyp|adenomatous polyp of colon	http://purl.obolibrary.org/obo/MONDO_0006498	http://identifiers.org/snomedct/428054006|NCIT:C96479	
MONDO:0006495	biolink:Disease	obsolete marginal zone B-cell lymphoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006495		
MONDO:0006496	biolink:Disease	palsy	A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)	Wikipedia:Palsy|ICD10CM:G80-G83|MESH:D010243|EFO:1000631	mondo.json	Plegia|Plegias	http://purl.obolibrary.org/obo/MONDO_0006496	http://identifiers.org/mesh/D010243|http://purl.bioontology.org/ontology/ICD10CM/G80-G83	
MONDO:0006493	biolink:Disease	Warthin tumor	An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland.	UMLS:C0001429|SCTID:422470007|GARD:0008569|EFO:1000625|NCIT:C2854|MESH:D000235|ICDO:8561/0	mondo.json	papillary cystadenoma lymphomatosum (formerly)|Warthin tumor|papillary cystadenoma lymphomatosum|adenolymphoma|Warthin's tumor	http://purl.obolibrary.org/obo/MONDO_0006493	http://identifiers.org/snomedct/422470007|UMLS:C0001429|http://identifiers.org/mesh/D000235|NCIT:C2854	gard_rare
MONDO:0006494	biolink:Disease	obsolete thyroid disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006494		
NCBITaxon:171	biolink:OrganismalEntity	Leptospira		PMID:1581182|GC_ID:11|PMID:9103653|PMID:10425768|PMID:19868121	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_171		
MONDO:0006491	biolink:Disease	vulvar lichen sclerosus	A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia.	UMLS:C0022783|EFO:1000623|MESH:D007724|NCIT:C27723	mondo.json	mammalian vulva lichen sclerosus et atrophicus|vulvar lichen sclerosus|lichen sclerosus et atrophicus of mammalian vulva	http://purl.obolibrary.org/obo/MONDO_0006491	http://identifiers.org/mesh/D007724|NCIT:C27723|UMLS:C0022783	
CHEBI:83970	biolink:ChemicalSubstance	cardiac glycoside	Steroid lactones containing sugar residues that act on the contractile force of the cardiac muscles.		mondo.json	cardiac glycosides	http://purl.obolibrary.org/obo/CHEBI_83970		
MONDO:0006492	biolink:Disease	obsolete vulvar squamous cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006492		
FOODON:03400289	biolink:NamedThing	USA agency food product type	Food group having common consumption, functional or manufacturing characteristics, e.g. *FRUIT OR VEGETABLE PRODUCT*, *DAIRY PRODUCT*, *CONFECTIONARY*, *PREPARED FOOD PRODUCT*, etc. [FDA CFSAN 1995]	http://www.langual.org/langual_thesaurus.asp?termid=A0289	mondo.json		http://purl.obolibrary.org/obo/FOODON_03400289		
MONDO:0006490	biolink:Disease	vaginal squamous cell carcinoma	A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease.	UMLS:C0238518|EFO:1000620|ONCOTREE:VSC|SCTID:105121000119102|NCIT:C7736	mondo.json	epidermoid carcinoma of the vagina|carcinoma of vagina squamous cell|vaginal squamous cell carcinoma|vaginal epidermoid carcinoma|vaginal squamous cell cancer, NOS|vagina epidermoid cell carcinoma|squamous cell carcinoma of vagina|vagina epidermoid carcinoma|squamous cell carcinoma of the vagina|vagina squamous cell carcinoma|vaginal epidermoid cell carcinoma|vaginal squamous cell cancer|epidermoid cell carcinoma of vagina|epidermoid cell carcinoma of the vagina|epidermoid carcinoma of vagina|squamous cell carcinoma of the vulva/vagina	http://purl.obolibrary.org/obo/MONDO_0006490	NCIT:C7736|http://identifiers.org/snomedct/105121000119102|UMLS:C0238518	
NCBITaxon:170	biolink:OrganismalEntity	Leptospiraceae		GC_ID:11|PMID:16014471	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_170		
MONDO:0018488	biolink:Disease	obsolete rare genetic odontal or periodontal disorder		Orphanet:420755|UMLS:CN237489	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018488	UMLS:CN237489|Orphanet:420755	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0018487	biolink:Disease	autosomal recessive severe congenital neutropenia due to CXCR2 deficiency		Orphanet:420699	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018487	Orphanet:420699	ordo_disease
MONDO:0018489	biolink:Disease	autoimmune encephalopathy with parasomnia and obstructive sleep apnea	Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported.	UMLS:CN237490|SCTID:765751002|Orphanet:420789	mondo.json	anti-IgLON5 disease|anti-IgLON5 syndrome	http://purl.obolibrary.org/obo/MONDO_0018489	UMLS:CN237490|Orphanet:420789|http://identifiers.org/snomedct/765751002	ordo_disease
MONDO:0018484	biolink:Disease	semicircular canal dehiscence syndrome	Semicircular canal dehiscence (SCD) syndrome is a rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms.	DOID:0080193|SCTID:717799003|Orphanet:420402|GARD:0010993	mondo.json	third mobile window syndrome|Minorbs syndrome|superior semicircular canal dehiscence syndrome|SCD syndrome|superior canal syndrome|superior semicircular canal dehiscence|superior canal dehiscence|Minor's syndrome|canal dehiscence syndrome	http://purl.obolibrary.org/obo/MONDO_0018484	Orphanet:420402|DOID:0080193|http://identifiers.org/snomedct/717799003	ordo_clinical_syndrome
MONDO:0018483	biolink:Disease	secondary pulmonary alveolar proteinosis	A form of pulmonary alveolar proteinosis that arises in association with hematological disorders, medications, certain infections, acute silicosis, and immunodeficiency.	SCTID:707510005|UMLS:C3873302|Orphanet:420259	mondo.json	secondary PAP|SPAP	http://purl.obolibrary.org/obo/MONDO_0018483	Orphanet:420259|http://identifiers.org/snomedct/707510005|UMLS:C3873302	ordo_disease
MONDO:0018486	biolink:Disease	visual snow syndrome	Visual snow syndrome is described as a persistent visual problem characterized by seeing snow-like dots. Migraines are a common symptom. Many people also see drifting blobs of varying size and shape (floaters), visual effects (entopic phenomenon), glare, halos, starbursts, trails, odd colors and shapes, and may have persistent recurrence of a visual image (palinopsia) and double vision. Additional symptoms may include fatigue, tinnitus, or depersonalization and depression. Most people have normal vision tests and normal brain images. Standard migraine treatments are often not helpful. There is no cure or effective treatment to completely relieve the symptoms, but medication seems to help some people with visual snow.	UMLS:CN237477|GARD:0012062|Orphanet:420556	mondo.json	visual snow	http://purl.obolibrary.org/obo/MONDO_0018486	UMLS:CN237477|Orphanet:420556	gard_rare|ordo_disease
MONDO:0018485	biolink:Disease	glycogen storage disease due to acid maltase deficiency, late-onset	Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes.	UMLS:C3888925|SCTID:722343009|UMLS:C0342753|Orphanet:420429	mondo.json	Alpha-1,4-glucosidase acid deficiency, late onset|glycogen storage disease type 2, late-onset|GSD due to acid maltase deficiency, late-onset|glycogenosis type II, late-onset|GSD type 2, late-onset|glycogen storage disease type 2, late onset|GSD due to acid maltase deficiency, late onset|glycogenosis type II, late onset|GSD type 2, late onset|Pompe disease, late-onset|GSD type II, late-onset|glycogenosis type 2, late-onset|glycogen storage disease type II, late-onset|Pompe disease, late onset|GSD type II, late onset|glycogenosis type 2, late onset|Alpha-1,4-glucosidase acid deficiency, late-onset|glycogen storage disease type II, late onset	http://purl.obolibrary.org/obo/MONDO_0018485	UMLS:C0342753|Orphanet:420429|http://identifiers.org/snomedct/722343009|UMLS:C3888925	ordo_clinical_subtype
MONDO:0018471	biolink:Disease	generalized eruptive keratoacanthoma	Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug.	UMLS:CN237455|UMLS:C0345985|SCTID:254664008|Orphanet:411777	mondo.json	Grzybowski syndrome|generalized eruptive keratoacanthomas of Grzybowski|GEKA	http://purl.obolibrary.org/obo/MONDO_0018471	http://identifiers.org/snomedct/254664008|UMLS:CN237455|Orphanet:411777|UMLS:C0345985	ordo_disease
MONDO:0018470	biolink:Disease	renal agenesis	Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s).	NCIT:C99041|HP:0000104|OMIMPS:191830|GARD:0009228|DOID:14766|HP:0008678|Orphanet:411709|SCTID:204942005	mondo.json	renal adysplasia|renal aplasia|renal hypodysplasia/aplasia|renal agenesis|hereditary urogenital adysplasia|renal agenesis (disease)|renal agenesis/hypoplasia|hereditary renal aplasia|absent/underdeveloped kidney|absent/small kidney	http://purl.obolibrary.org/obo/MONDO_0018470	NCIT:C99041|DOID:14766|https://omim.org/phenotypicSeries/PS191830|http://identifiers.org/snomedct/204942005|Orphanet:411709	ordo_morphological_anomaly
MONDO:0043455	biolink:Disease	humoral hypercalcemia of malignancy	Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function.	MESH:C562390|NCIT:C3496|SCTID:47709007|UMLS:C0149911	mondo.json	hhm|malignancy associated hypercalcemia|humoral hypercalcemia of malignancy|hypercalcemia of malignancy|malignant hypercalcemia|mahc	http://purl.obolibrary.org/obo/MONDO_0043455	http://identifiers.org/mesh/C562390|NCIT:C3496|UMLS:C0149911|http://identifiers.org/snomedct/47709007	
MONDO:0043452	biolink:Disease	chromosome 8, trisomy	A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.	SCTID:205649008|NCIT:C36396|MESH:C537942	mondo.json	chromosome 8 duplication|trisomy 8	http://purl.obolibrary.org/obo/MONDO_0043452	http://identifiers.org/snomedct/205649008|http://identifiers.org/mesh/C537942	
CHR:9606-chr10p	biolink:NamedThing	10p (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr10p		
CHR:9606-chr10q	biolink:NamedThing	10q (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr10q		
MONDO:0018477	biolink:Disease	bilirubin encephalopathy		MESH:D007647|EFO:1001002|MedDRA:10023376|DOID:2382|GARD:0006830|NCIT:C84799|Orphanet:415286|SCTID:50143004	mondo.json	kernicterus spectrum disorder|hyperbilirubinemic encephalopathy|bilirubin encephalopathy|kernicterus	http://purl.obolibrary.org/obo/MONDO_0018477	http://identifiers.org/mesh/D007647|DOID:2382|Orphanet:415286|http://identifiers.org/snomedct/50143004|NCIT:C84799	ordo_clinical_syndrome
MONDO:0018476	biolink:Disease	dystonia-aphonia syndrome		Orphanet:412217|UMLS:CN237465	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018476	UMLS:CN237465|Orphanet:412217	ordo_disease
MONDO:0018479	biolink:Disease	congenital adrenal hyperplasia	Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease.	DOID:0050811|MedDRA:10010323|SCTID:237751000|UMLS:C0701163|GARD:0001467|NCIT:C34360|Orphanet:418|UMLS:C0001627|MESH:D000312|ICD9:255.2	mondo.json	congenital lipoid adrenal hyperplasia|adrenal hyperplasia, congenital|CAH|lipoid CAH|congenital adrenal gland hyperplasia|adrenogenital syndrome|adrenogenital disorder|adrenal hyperplasia	http://purl.obolibrary.org/obo/MONDO_0018479	NCIT:C34360|UMLS:C0001627|http://identifiers.org/mesh/D000312|Orphanet:418|DOID:0050811|http://identifiers.org/snomedct/237751000|UMLS:C0701163	disease_grouping|ordo_group_of_disorders
HGNC:21528	biolink:NamedThing	DIABLO			mondo.json		http://identifiers.org/hgnc/21528		
MONDO:0018478	biolink:Disease	obsolete primary hyperoxaluria			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018478		
MONDO:0018473	biolink:Disease	hyperlipoproteinemia type 3	Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease.	GARD:0006703|UMLS:C1862561|DOID:3145|OMIM:617347|Orphanet:412|UMLS:C0020479|MedDRA:10060751|SCTID:398796005	mondo.json	dysbetalipoproteinemia|remnant disease|familial hypercholesterolemia with hyperlipemia|low density lipoprotein cholesterol level quantitative trait locus 5|hyperlipoproteinemia, type III|coronary artery disease, Severe, Susceptibility to|dyslipidemia type 3|familial type 3 hyperlipoproteinemia|dysbetalipoproteinemia due to defect in apolipoprotein E-D|Broad-betalipoproteinemia|familial hypercholesterolaemia with hyperlipaemia|apolipoprotein E, deficiency or defect of|floating-betalipoproteinemia|hyperlipidemia type 3|familial dysbetalipoproteinemia|carbohydrate induced hyperlipemia|hyperlipoproteinemia type III|hyperlipemia with Familial Hypercholesterolemic xanthomatosis|familial Hyperbeta- and Prebetalipoproteinemia|remnant removal disease|familial hyperlipoproteinemia type 3|Broad beta disease|HLP type 3|remnant hyperlipidemia	http://purl.obolibrary.org/obo/MONDO_0018473	Orphanet:412|DOID:3145|http://identifiers.org/snomedct/398796005|UMLS:C0020479|UMLS:C1862561|https://omim.org/entry/617347	ordo_disease
GO:0031175	biolink:NamedThing	neuron projection development	The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).		mondo.json	neurite development|neurite growth|neurite outgrowth|neurite formation|neurite biosynthesis	http://purl.obolibrary.org/obo/GO_0031175		
MONDO:0018472	biolink:Disease	familial isolated trichomegaly	Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.	Orphanet:411788|DOID:0111566|SCTID:764523004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018472	Orphanet:411788|DOID:0111566|http://identifiers.org/snomedct/764523004	ordo_disease
MONDO:0018475	biolink:Disease	PRKAR1B-related neurodegenerative dementia with intermediate filaments		UMLS:CN237461|Orphanet:412066	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018475	UMLS:CN237461|Orphanet:412066	ordo_disease
MONDO:0018474	biolink:Disease	13q12.3 microdeletion syndrome	13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.	Orphanet:412035|UMLS:CN237459	mondo.json	Del(13)(q12.3)|monosomy 13q12.3	http://purl.obolibrary.org/obo/MONDO_0018474	UMLS:CN237459|Orphanet:412035	ordo_malformation_syndrome
MONDO:0018460	biolink:Disease	Eales disease	Eales disease (ED) is an idiopathic, inflammatory retinal venous occlusive disease characterized by 3 stages: vasculitis, occlusion and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss.	SCTID:54122009|MedDRA:10057429|MESH:C538011|Orphanet:40923|UMLS:C0271073|GARD:0006309	mondo.json	idiopathic retinal vasculitis|idiopathic retinal perivasculitis|idiopathic obliterative vasculopathy|idiopathic recurrent vitreal hemorrhage	http://purl.obolibrary.org/obo/MONDO_0018460	http://identifiers.org/snomedct/54122009|Orphanet:40923|UMLS:C0271073|http://identifiers.org/mesh/C538011	gard_rare|ordo_disease
MONDO:0006479	biolink:Disease	undifferentiated pancreatic carcinoma with osteoclast-like giant cells	A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells.	UMLS:C2007059|DOID:7718|EFO:1000607|NCIT:C5723	mondo.json	osteoclast-like giant cell neoplasm of pancreas|undifferentiated pancreatic carcinoma with osteoclast-like giant cells|osteoclast-like giant cell neoplasm of the pancreas|pancreatic osteoclast-like giant cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006479	DOID:7718|UMLS:C2007059|NCIT:C5723	
MONDO:0006477	biolink:Disease	undifferentiated ovarian carcinoma	An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor.	SCTID:254856004|UMLS:C0346167|EFO:1000605|NCIT:C4509	mondo.json	undifferentiated carcinoma of the ovary|ovary undifferentiated carcinoma|undifferentiated carcinoma of ovary|anaplastic carcinoma of the ovary|anaplastic carcinoma of ovary|ovarian undifferentiated carcinoma|anaplastic ovarian carcinoma|undifferentiated ovarian carcinoma|undifferentiated ovarian cancer	http://purl.obolibrary.org/obo/MONDO_0006477	http://identifiers.org/snomedct/254856004|NCIT:C4509|UMLS:C0346167	
MONDO:0006478	biolink:Disease	undifferentiated pancreatic carcinoma	A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells.	UMLS:C1336861|NCIT:C5722|EFO:1000606|ONCOTREE:UCP	mondo.json	spindle cell pancreatic carcinoma|undifferentiated carcinoma of pancreas|undifferentiated carcinoma of the pancreas|pancreas undifferentiated carcinoma|sarcomatoid pancreatic carcinoma|undifferentiated (anaplastic) pancreatic carcinoma|undifferentiated pancreatic carcinoma|pleomorphic large cell pancreatic carcinoma|pancreatic carcinosarcoma|UCP	http://purl.obolibrary.org/obo/MONDO_0006478	UMLS:C1336861|NCIT:C5722	
MONDO:0043465	biolink:Disease	achlorhydria	Absence of hydrochloric acid in the gastric juice.	MESH:D000126|NCIT:C2850|SCTID:47481007	mondo.json	absent gastric acidity|hypochlorhydria|achylia gastrica|gastric anacidity|achlorhydria	http://purl.obolibrary.org/obo/MONDO_0043465	NCIT:C2850|http://identifiers.org/mesh/D000126|http://identifiers.org/snomedct/47481007	
MONDO:0043468	biolink:Disease	acne keloid	A chronic eruption of fibrous papules that develop and fuse to form a thick sclerotic, hypertrophic band at a site of deep folliculitis, usually along the posterior hairline of the scalp. It is most commonly seen in men of African descent.	UMLS:C0001145|NCIT:C34346|SCTID:238746008|EFO:1001256|MESH:D000153	mondo.json	papillaris Capillitius, dermatitis|Keloidalis nuchae, lichen|folliculitis Keloidalis nuchae|dermatitis papillaris Capillitii|acne, keloidal|acne keloid|lichen Keloidalis nuchae|nuchae, lichen Keloidalis|folliculitis Keloidalis|keloidal Acnes|keloid Acnes, nuchal|keloid acne, nuchal|keloidal folliculitis|nuchal keloid Acnes|Capillitii, dermatitis papillaris|nuchae, folliculitis Keloidalis|nuchal keloid acne|Capillitius, dermatitis papillaris|keloids, acne|Keloidalis nuchae, folliculitis|keloidal acne|dermatitis papillaris Capillitius|keloid, acne|papillaris Capillitii, dermatitis|acne keloids|acne Keloidalis|acne, nuchal keloid|Acnes, nuchal keloid	http://purl.obolibrary.org/obo/MONDO_0043468	UMLS:C0001145|http://identifiers.org/mesh/D000153|NCIT:C34346|http://identifiers.org/snomedct/238746008	
MONDO:0006475	biolink:Disease	obsolete unclassified renal cell carcinoma	OBSOLETE. A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology.	NCIT:C27892|UMLS:C1336853|EFO:1000603|ONCOTREE:URCC	mondo.json	URCC|unclassified renal cell cancer|unclassified renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006475	NCIT:C27892|UMLS:C1336853	
MONDO:0006476	biolink:Disease	undifferentiated gallbladder carcinoma	A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma.	UMLS:C0279653|EFO:1000604|NCIT:C9167	mondo.json	undifferentiated gallbladder carcinoma|gallbladder undifferentiated carcinoma|gall bladder undifferentiated carcinoma|undifferentiated gallbladder cancer|undifferentiated carcinoma of the gallbladder|undifferentiated carcinoma of gallbladder|anaplastic carcinoma of the gallbladder|anaplastic carcinoma of gallbladder|anaplastic gallbladder carcinoma	http://purl.obolibrary.org/obo/MONDO_0006476	NCIT:C9167|UMLS:C0279653	
MONDO:0006473	biolink:Disease	obsolete tracheal squamous cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006473		
MONDO:0006474	biolink:Disease	transitional cell carcinoma	A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries.	MESH:D002295|DOID:2671|UMLS:C0007138|NCIT:C2930|GARD:0007794|EFO:1000601|NCIT:C6783|UMLS:C0334265|ICDO:8120/3	mondo.json	transitional carcinoma|carcinoma of urothelial cell|transitional cell tumor|carcinoma of transitional epithelial cell|transitional cell neoplasm|urothelial cell carcinoma|carcinoma, urothelial, malignant|transitional epithelial cell carcinoma|transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006474	NCIT:C2930|UMLS:C0007138|DOID:2671|http://identifiers.org/mesh/D002295	gard_rare
MONDO:0006471	biolink:Disease	tracheal adenoid cystic carcinoma	An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes.	DOID:4875|SCTID:254619006|UMLS:C0345945|NCIT:C6051|EFO:1000598	mondo.json	trachea adenoid cystic carcinoma|adenoid cystic carcinoma of the trachea|tracheal adenoid cystic carcinoma|adenoid cystic carcinoma of trachea	http://purl.obolibrary.org/obo/MONDO_0006471	UMLS:C0345945|http://identifiers.org/snomedct/254619006|NCIT:C6051|DOID:4875	
MONDO:0006472	biolink:Disease	obsolete tracheal carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006472		
MONDO:0006470	biolink:Disease	tonsillar squamous cell carcinoma	A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass.	NCIT:C8183|UMLS:C0280317|EFO:1000597	mondo.json	palatine tonsil squamous cell carcinoma|tonsil scc|squamous cell carcinoma of tonsil|squamous cell carcinoma of the tonsil|scc of tonsil|scc of the tonsil|tonsillar scc	http://purl.obolibrary.org/obo/MONDO_0006470	NCIT:C8183|UMLS:C0280317	
MONDO:0031481	biolink:Disease	microcephaly, epilepsy, and diabetes syndrome 1		Orphanet:306558|OMIM:614231|UMLS:C3280240	mondo.json	primary microcephaly-epilepsy-permanent neonatal diabetes syndrome|MEDS1|microcephaly, epilepsy, and diabetes syndrome	http://purl.obolibrary.org/obo/MONDO_0031481	https://omim.org/entry/614231|UMLS:C3280240|Orphanet:306558	ordo_disease
NCBITaxon:194	biolink:OrganismalEntity	Campylobacter		PMID:12361288|PMID:1704793|PMID:19801389|PMID:16627635|PMID:29034857|PMID:11542086|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_194		
MONDO:0043459	biolink:Disease	radiation-induced disorder	A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas.	Orphanet:521132|MESH:D000016|SCTID:85983004|NCIT:C26684|UMLS:C1527225	mondo.json	radiation-induced Abnormality|Abnormality, radiation-induced|abnormalities, radiation induced|radiation induced abnormalities|radiation-induced abnormalities|radiation-induced disorder	http://purl.obolibrary.org/obo/MONDO_0043459	NCIT:C26684|Orphanet:521132|UMLS:C1527225|http://identifiers.org/mesh/D000016|http://identifiers.org/snomedct/85983004	ordo_group_of_disorders|disease_grouping
MONDO:0043458	biolink:Disease	radiation injury	Harmful effects of non-experimental exposure to ionizing or non-ionizing radiation in VERTEBRATES.	MESH:D011832|UMLS:C0034535	mondo.json	syndromes, radiation|radiation injury|Sicknesses, radiation|sickness, radiation|Injuries, radiation|injury, radiation|radiation sickness|radiation syndromes|radiation Sicknesses|radiation syndrome|syndrome, radiation	http://purl.obolibrary.org/obo/MONDO_0043458	UMLS:C0034535|http://identifiers.org/mesh/D011832	
MONDO:0018469	biolink:Disease	pulmonary non-tuberculous mycobacterial infection		Orphanet:411703|UMLS:CN237452|GARD:0012829	mondo.json	nontuberculous mycobacterial lung disease|non-tuberculous mycobacterial lung disease	http://purl.obolibrary.org/obo/MONDO_0018469	Orphanet:411703|UMLS:CN237452	ordo_disease
NCBITaxon:196	biolink:OrganismalEntity	Campylobacter fetus		GC_ID:11|PMID:1354478|PMID:11321120	mondo.json	Spirillum fetus|Vibrio fetus	http://purl.obolibrary.org/obo/NCBITaxon_196		
MONDO:0018466	biolink:Disease	obsolete hereditary late onset Parkinson disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018466		
MONDO:0018465	biolink:Disease	insulin autoimmune syndrome	Insulin autoimmune syndrome is a rare condition that causes low blood sugar (hypoglycemia). This occurs because the body begins to make a specific kind of protein called antibodies to attack insulin. Insulin is a naturally occurring hormone that is responsible for keeping blood sugar at a normal level. When blood sugar levels get too high, insulin helps to store the sugar for future use. People affected by insulin autoimmune syndrome have antibodies that attack insulin, causing it to work too hard and the level of blood sugar to become too low. Insulin autoimmune syndrome most often begins during adulthood.	SCTID:408539000|ICD9:279.49|GARD:0010808|DOID:0040100|UMLS:C0854359|Orphanet:411593	mondo.json	insulin autoimmune hypoglycemia|Hirata disease	http://purl.obolibrary.org/obo/MONDO_0018465	Orphanet:411593|UMLS:C0854359|http://identifiers.org/snomedct/408539000|DOID:0040100	gard_rare|ordo_disease
MONDO:0018468	biolink:Disease	proton-pump inhibitor-responsive esophageal eosinophilia	Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy.	Orphanet:411696	mondo.json	PPI-REE|PPI-responsive esophageal eosinophilia|PPIRee	http://purl.obolibrary.org/obo/MONDO_0018468	Orphanet:411696	ordo_disease
MONDO:0018467	biolink:Disease	nephropathic infantile cystinosis	Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.	ICD10EXP:N16.3*|Orphanet:411629|ICD10EXP:E72.0+	mondo.json	cystinosin, defect of|nephropathic infantile cystinosis|lysosomal cystine transport protein, defect of|CTNS|cystinosis, infantile nephropathic|cystinosis, atypical nephropathic	http://purl.obolibrary.org/obo/MONDO_0018467	Orphanet:411629	ordo_clinical_subtype
MONDO:0018462	biolink:Disease	Angelman syndrome due to imprinting defect in 15q11-q13		Orphanet:411515|UMLS:CN237442	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018462	Orphanet:411515|UMLS:CN237442	ordo_etiological_subtype
MONDO:0018461	biolink:Disease	Angelman syndrome due to a point mutation		Orphanet:411511|UMLS:CN237441	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018461	Orphanet:411511|UMLS:CN237441	ordo_etiological_subtype
MONDO:0018464	biolink:Disease	severe phosphoribosylpyrophosphate synthetase superactivity	Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies.	UMLS:CN237444|Orphanet:411543	mondo.json	severe PRPP synthetase superactivity|severe PRPS1 superactivity	http://purl.obolibrary.org/obo/MONDO_0018464	Orphanet:411543|UMLS:CN237444	ordo_clinical_subtype
MONDO:0018463	biolink:Disease	mild phosphoribosylpyrophosphate synthetase superactivity	Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders.	Orphanet:411536|UMLS:CN237443	mondo.json	mild PRPP synthetase superactivity|mild PRPS1 superactivity	http://purl.obolibrary.org/obo/MONDO_0018463	Orphanet:411536|UMLS:CN237443	ordo_clinical_subtype
UBERON:0015083	biolink:AnatomicalEntity	proximal tarsal bone pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015083		
UBERON:0015082	biolink:AnatomicalEntity	proximal tarsal cartilage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015082		
MONDO:0006488	biolink:Disease	vaginal carcinosarcoma	An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component.	NCIT:C40278|UMLS:C1519918|EFO:1000618|DOID:136	mondo.json	vaginal malignant mixed mesodermal (Mullerian) tumor|vaginal malignant mixed Mullerian tumor|vaginal carcinosarcoma|malignant vaginal mixed epithelial and mesenchymal tumor|vaginal malignant mixed mesodermal (Müllerian) tumor|vaginal mixed epithelial and mesenchymal tumor	http://purl.obolibrary.org/obo/MONDO_0006488	DOID:136|UMLS:C1519918|NCIT:C40278	
MONDO:0006489	biolink:Disease	vaginal melanoma	A primary malignant neoplasm of the vagina composed of malignant melanocytes.	ONCOTREE:VMM|EFO:1000619|NCIT:C27394|UMLS:C2004576	mondo.json	vagina melanoma|melanoma (disease) of vagina|melanoma of vagina|melanoma of the vagina|vagina melanoma (disease)|mucosal melanoma of the vulva/vagina|vaginal melanoma	http://purl.obolibrary.org/obo/MONDO_0006489	NCIT:C27394|UMLS:C2004576	
GO:0045700	biolink:NamedThing	regulation of spermatid nuclear differentiation	Any process that modulates the frequency, rate or extent of spermatid nuclear differentiation.		mondo.json		http://purl.obolibrary.org/obo/GO_0045700		
MONDO:0006486	biolink:Disease	uveal melanoma	A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B.	MedDRA:10061252|DOID:6039|UMLS:C0220633|EFO:1000616|GARD:0008621|MESH:C536494|OMIM:155720|NCIT:C7712|Orphanet:39044|ONCOTREE:UM	mondo.json	intraocular melanoma|melanoma of the uvea|iris melanoma|uvea melanoma (disease)|melanoma (disease) of uvea|melanoma of uvea|choroidal melanoma|melanoma, uveal, malignant|uveal melanoma|uvea melanoma	http://purl.obolibrary.org/obo/MONDO_0006486	Orphanet:39044|http://identifiers.org/mesh/C536494|NCIT:C7712|UMLS:C0220633|https://omim.org/entry/155720|DOID:6039	ordo_disease
MONDO:0043479	biolink:Disease	adenoviridae infectious disease	An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis.	MESH:D000257|NCIT:C115149|SCTID:25225006|UMLS:C0001486	mondo.json	Adenoviridae disease or disorder|infection, Adenoviridae|infection, adenovirus|infections, Adenoviridae|infections, adenovirus|Adenoviridae infection|disease due to adenovirus|disease caused by adenovirus|Adenoviridae infectious disease|adenoviridae infectious disease|Adenoviridae caused disease or disorder|adenovirus infection|adenovirus infections	http://purl.obolibrary.org/obo/MONDO_0043479	http://identifiers.org/snomedct/25225006|UMLS:C0001486|http://identifiers.org/mesh/D000257|NCIT:C115149	
MONDO:0006487	biolink:Disease	vaginal adenoid cystic carcinoma	An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present.	NCIT:C40261|EFO:1000617|UMLS:C1519912	mondo.json	vaginal adenoid cystic carcinoma|vaginal adenoid cystic cancer	http://purl.obolibrary.org/obo/MONDO_0006487	UMLS:C1519912|NCIT:C40261	
MONDO:0006484	biolink:Disease	usual ductal breast hyperplasia	A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells.	NCIT:C27941|ICD9:611.89|SCTID:472905007|EFO:1000612|UMLS:C3532429	mondo.json	ductal breast hyperplasia of usual type|ordinary intraductal breast hyperplasia|UDH	http://purl.obolibrary.org/obo/MONDO_0006484	NCIT:C27941|UMLS:C3532429|http://identifiers.org/snomedct/472905007	
MONDO:0043472	biolink:Disease	ectopic ACTH secretion syndrome	A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott)	NCIT:C4387|SCTID:626004|MESH:D000182|UMLS:C0001231	mondo.json	ectopic ACTH syndrome|ectopic ACTH secretion causing Cushing's syndrome|ectopic ACTH syndromes|ACTH syndromes, ectopic|hypercortisolism due to nonpituitary tumor|ectopic ACTH secretion syndrome|ectopic ACTH secretion|syndromes, ectopic ACTH|syndrome, ectopic ACTH	http://purl.obolibrary.org/obo/MONDO_0043472	http://identifiers.org/snomedct/626004|UMLS:C0001231|http://identifiers.org/mesh/D000182|NCIT:C4387	
MONDO:0006485	biolink:Disease	uterine carcinosarcoma	A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma.	ONCOTREE:UCS|UMLS:C0280630|EFO:1000613|MESH:D012192|NCIT:C42700|DOID:6171|SCTID:702369008	mondo.json	mixed mullerian sarcoma of uterus|uterine carcinosarcoma/uterine malignant mixed mullerian tumor|uterine malignant mixed mesodermal (Mullerian) tumor|carcinosarcoma of the uterus|malignant mixed mesodermal (Müllerian) tumor of the uterus|uterine carcinosarcoma|uterine malignant mixed mesodermal (Müllerian) tumor|malignant mixed mesodermal (Mullerian) tumor of the uterus|uterus carcinosarcoma	http://purl.obolibrary.org/obo/MONDO_0006485	http://identifiers.org/mesh/D012192|UMLS:C0280630|NCIT:C42700|DOID:6171|http://identifiers.org/snomedct/702369008	
MONDO:0043475	biolink:Disease	Adams-Stokes syndrome	An episode of sudden and transient loss of consciousness sometimes associated with seizures. It is caused by a sudden decrease of the cardiac output that results from a sudden cardiac dysrhythmia. Typically patients develop an initial pallor, followed by facial flush during recovery.	UMLS:C0001396|NCIT:C79765|EFO:1001259|SCTID:46935006|MESH:D000219	mondo.json	syndrome, Adams-Stokes|syndrome, Stokes-Adams|Adam Stokes attacks|Stokes-Adams syndrome|Adam-Stokes attacks|Stokes Adams syndrome|attacks, Stokes-Adams|Stokes-Adams-morgagni syndrome|Stokes-Adams attacks|attacks, Adam-Stokes|Stokes Adams attacks|Adams Stokes syndrome	http://purl.obolibrary.org/obo/MONDO_0043475	NCIT:C79765|UMLS:C0001396|http://identifiers.org/mesh/D000219|http://identifiers.org/snomedct/46935006	
MONDO:0006482	biolink:Disease	ureter small cell carcinoma	A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor.	NCIT:C6176|DOID:6886|UMLS:C1336878|EFO:1000610	mondo.json	small cell carcinoma of ureter|small cell carcinoma of the ureter|ureter small cell carcinoma|ureteral small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006482	NCIT:C6176|UMLS:C1336878|DOID:6886	
MONDO:0006483	biolink:Disease	urothelial dysplasia	A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract.	NCIT:C39856|EFO:1000611|UMLS:C1275859	mondo.json	transitional cell dysplasia of the urinary tract|urothelial dysplasia	http://purl.obolibrary.org/obo/MONDO_0006483	UMLS:C1275859|NCIT:C39856	
MONDO:0006480	biolink:Disease	undifferentiated pleomorphic sarcoma, inflammatory variant	An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells.	EFO:1000608|DOID:6192|UMLS:C1334180|NCIT:C6497	mondo.json	undifferentiated pleomorphic sarcoma, inflammatory variant|Xanthosarcoma|malignant xanthogranuloma|inflammatory malignant fibrous histiocytoma|inflammatory MFH	http://purl.obolibrary.org/obo/MONDO_0006480	NCIT:C6497|UMLS:C1334180|DOID:6192	
MONDO:0006481	biolink:Disease	ureter carcinoma	A carcinoma that arises from epithelial cells of the ureter.	EFO:1000609|NCIT:C8993|DOID:4939|SCTID:448864006|UMLS:C0600079	mondo.json	carcinoma of ureter|carcinoma of the ureter|ureter carcinoma|ureter cancer|ureteral carcinoma	http://purl.obolibrary.org/obo/MONDO_0006481	http://identifiers.org/snomedct/448864006|DOID:4939|NCIT:C8993|UMLS:C0600079	
MONDO:0018459	biolink:Disease	isolated glycerol kinase deficiency	Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD ).	Orphanet:408|GARD:0002807	mondo.json	nonsyndromic inborn glycerol kinase deficiency|hyperglycerolemia|nonsyndromic glycerol kinase deficiency|isolated inborn glycerol kinase deficiency	http://purl.obolibrary.org/obo/MONDO_0018459	Orphanet:408	ordo_disease
MONDO:0018458	biolink:Disease	familial hypocalciuric hypercalcemia	Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.	OMIMPS:145980|UMLS:C1809471|DOID:0060699|NCIT:C123262|UMLS:C0342637|GARD:0010828|SCTID:237885008|Orphanet:405	mondo.json	FHH|hypocalciuric hypercalcemia|familial benign hypercalcemia|familial benign hypocalciuric hypercalcemia|FBHH|FBH	http://purl.obolibrary.org/obo/MONDO_0018458	http://identifiers.org/snomedct/237885008|Orphanet:405|UMLS:C1809471|UMLS:C0342637|https://omim.org/phenotypicSeries/PS145980|DOID:0060699|NCIT:C123262	ordo_disease
GO:0045701	biolink:NamedThing	negative regulation of spermatid nuclear differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of spermatid nuclear differentiation.		mondo.json	down regulation of spermatid nuclear differentiation|downregulation of spermatid nuclear differentiation|inhibition of spermatid nuclear differentiation|down-regulation of spermatid nuclear differentiation	http://purl.obolibrary.org/obo/GO_0045701		
GO:0045702	biolink:NamedThing	positive regulation of spermatid nuclear differentiation	Any process that activates or increases the frequency, rate or extent of spermatid nuclear differentiation.		mondo.json	up-regulation of spermatid nuclear differentiation|up regulation of spermatid nuclear differentiation|activation of spermatid nuclear differentiation|stimulation of spermatid nuclear differentiation|upregulation of spermatid nuclear differentiation	http://purl.obolibrary.org/obo/GO_0045702		
MONDO:0018455	biolink:Disease	obsolete dysostosis of genetic origin with limb anomaly as a major feature		Orphanet:404571	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018455	Orphanet:404571	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
HGNC:21504	biolink:NamedThing	PRY2			mondo.json		http://identifiers.org/hgnc/21504		
MONDO:0018454	biolink:Disease	dysostosis of genetic origin	An instance of dysostosis that is caused by a modification of the individual's genome.	Orphanet:404568	mondo.json	genetic dysostosis	http://purl.obolibrary.org/obo/MONDO_0018454	Orphanet:404568	ordo_group_of_disorders|disease_grouping
MONDO:0018457	biolink:Disease	obsolete rare genetic bone development disorder		UMLS:CN227376|Orphanet:404584	mondo.json	rare genetic skeletal development disorder	http://purl.obolibrary.org/obo/MONDO_0018457	UMLS:CN227376|Orphanet:404584	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
UBERON:0015081	biolink:AnatomicalEntity	proximal tarsal endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015081		
MONDO:0018456	biolink:Disease	polyarticular juvenile idiopathic arthritis		SCTID:16044751000119106|Orphanet:404580|EFO:1002020	mondo.json	polyarticular JIA|juvenile polyarticular arthritis|juvenile polyarthritis	http://purl.obolibrary.org/obo/MONDO_0018456	http://identifiers.org/snomedct/16044751000119106|Orphanet:404580	disease_grouping|ordo_group_of_disorders
UBERON:0015080	biolink:AnatomicalEntity	proximal carpal bone pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015080		
MONDO:0018451	biolink:Disease	X-linked distal hereditary motor neuropathy	X-linked form of distal hereditary motor neuropathy.	Orphanet:404538	mondo.json	distal hereditary motor neuropathy, X-linked|X-linked dHMN|X-linked distal spinal muscular atrophy	http://purl.obolibrary.org/obo/MONDO_0018451	Orphanet:404538	ordo_group_of_disorders|disease_grouping
MONDO:0018450	biolink:Disease	spinal muscular atrophy with respiratory distress type 2	Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.	Orphanet:404521|UMLS:CN226195	mondo.json	SMARD2|X-linked spinal muscular atrophy with respiratory distress|severe infantile axonal neuropathy with respiratory failure type 2|diaphragmatic spinal muscular atrophy type 2	http://purl.obolibrary.org/obo/MONDO_0018450	Orphanet:404521|UMLS:CN226195	ordo_disease
MONDO:0018453	biolink:Disease	familial atypical multiple mole melanoma syndrome		UMLS:C2314896|Orphanet:404560|NCIT:C27264	mondo.json	FAMM-PC syndrome|melanoma-pancreatic cancer syndrome|familial atypical multiple mole melanoma-pancreatic carcinoma syndrome|familial atypical mole syndrome|B-K mole syndrome|familial Clark nevus syndrome|familial atypical mole melanoma syndrome|familial dysplastic nevus syndrome|FAMMM syndrome|FAMM syndrome	http://purl.obolibrary.org/obo/MONDO_0018453	NCIT:C27264|Orphanet:404560	ordo_disease
MONDO:0018452	biolink:Disease	obsolete deficiency of the interleukin-36 receptor antagonist			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018452		
HP:0040214	biolink:PhenotypicFeature	Abnormal insulin level	An abnormal concentration of insulin in the body.	UMLS:C4073160	mondo.json		http://purl.obolibrary.org/obo/HP_0040214		
HP:0040215	biolink:PhenotypicFeature	Abnormal circulating insulin level	An abnormal concentration of insulin in the blood.	UMLS:C4073161	mondo.json		http://purl.obolibrary.org/obo/HP_0040215		
NCBITaxon:452563	biolink:OrganismalEntity	Cladosporiaceae		GC_ID:1|PMID:17486979	mondo.json	Davidiellaceae	http://purl.obolibrary.org/obo/NCBITaxon_452563		
GO:0045719	biolink:NamedThing	negative regulation of glycogen biosynthetic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glycogen.		mondo.json	down-regulation of glycogen biosynthetic process|negative regulation of glycogen biosynthesis|down regulation of glycogen biosynthetic process|inhibition of glycogen biosynthetic process|downregulation of glycogen biosynthetic process|negative regulation of glycogen anabolism|negative regulation of glycogen synthesis|negative regulation of glycogen formation	http://purl.obolibrary.org/obo/GO_0045719		
CHR:9606-chr13p	biolink:NamedThing	13p (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr13p		
CHR:9606-chr13q	biolink:NamedThing	13q (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr13q		
GO:0045717	biolink:NamedThing	negative regulation of fatty acid biosynthetic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids.		mondo.json	down regulation of fatty acid biosynthetic process|inhibition of fatty acid biosynthetic process|downregulation of fatty acid biosynthetic process|negative regulation of fatty acid anabolism|negative regulation of fatty acid synthesis|negative regulation of fatty acid biosynthesis|down-regulation of fatty acid biosynthetic process|negative regulation of fatty acid formation	http://purl.obolibrary.org/obo/GO_0045717		
HP:0030895	biolink:PhenotypicFeature	Abnormal gastrointestinal motility	An anomaly of the muscular contractions that propel food though the gastrointestinal tract.		mondo.json	Abnormal GI motility	http://purl.obolibrary.org/obo/HP_0030895		
MONDO:0031421	biolink:Disease	Olmsted syndrome		OMIMPS:614594	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031421	https://omim.org/phenotypicSeries/PS614594	
HP:0040211	biolink:PhenotypicFeature	Abnormal skin morphology of the palm	An abnormality of the skin of the palm, that is, the skin of the front of the hand.	UMLS:C4073159	mondo.json		http://purl.obolibrary.org/obo/HP_0040211		
GO:0045721	biolink:NamedThing	negative regulation of gluconeogenesis	Any process that stops, prevents, or reduces the frequency, rate or extent of gluconeogenesis.		mondo.json	inhibition of gluconeogenesis|downregulation of gluconeogenesis|down-regulation of gluconeogenesis|down regulation of gluconeogenesis	http://purl.obolibrary.org/obo/GO_0045721		
GO:0045722	biolink:NamedThing	positive regulation of gluconeogenesis	Any process that activates or increases the frequency, rate or extent of gluconeogenesis.		mondo.json	up-regulation of gluconeogenesis|up regulation of gluconeogenesis|activation of gluconeogenesis|stimulation of gluconeogenesis|upregulation of gluconeogenesis	http://purl.obolibrary.org/obo/GO_0045722		
CHR:9606-chr14q	biolink:NamedThing	14q (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr14q		
GO:0045727	biolink:NamedThing	positive regulation of translation	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.		mondo.json	positive regulation of protein formation|upregulation of protein biosynthetic process|positive regulation of protein biosynthesis|positive regulation of protein biosynthetic process|stimulation of protein biosynthetic process|up regulation of protein biosynthetic process|positive regulation of protein anabolism|up-regulation of protein biosynthetic process|activation of protein biosynthetic process|positive regulation of protein synthesis	http://purl.obolibrary.org/obo/GO_0045727		
GO:0045725	biolink:NamedThing	positive regulation of glycogen biosynthetic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glycogen.		mondo.json	up-regulation of glycogen biosynthetic process|up regulation of glycogen biosynthetic process|activation of glycogen biosynthetic process|positive regulation of glycogen biosynthesis|positive regulation of glycogen anabolism|stimulation of glycogen biosynthetic process|upregulation of glycogen biosynthetic process|positive regulation of glycogen synthesis|positive regulation of glycogen formation	http://purl.obolibrary.org/obo/GO_0045725		
GO:0045723	biolink:NamedThing	positive regulation of fatty acid biosynthetic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids.		mondo.json	up-regulation of fatty acid biosynthetic process|up regulation of fatty acid biosynthetic process|activation of fatty acid biosynthetic process|positive regulation of fatty acid biosynthesis|positive regulation of fatty acid anabolism|stimulation of fatty acid biosynthetic process|upregulation of fatty acid biosynthetic process|positive regulation of fatty acid synthesis|positive regulation of fatty acid formation	http://purl.obolibrary.org/obo/GO_0045723		
GO:0045724	biolink:NamedThing	positive regulation of cilium assembly	Any process that activates or increases the frequency, rate or extent of the formation of a cilium.		mondo.json	up-regulation of cilium assembly|positive regulation of flagellum biogenesis|positive regulation of flagellum assembly|up regulation of cilium assembly|activation of cilium assembly|stimulation of cilium assembly|upregulation of cilium assembly	http://purl.obolibrary.org/obo/GO_0045724		
CHR:9606-chr11p15	biolink:NamedThing	11p15 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr11p15		
CHR:9606-chr11p13	biolink:NamedThing	11p13 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr11p13		
MONDO:0031432	biolink:Disease	thyroid hormone metabolism, abnormal		OMIMPS:609698	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031432	https://omim.org/phenotypicSeries/PS609698	
MONDO:0031439	biolink:Disease	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies		OMIMPS:617877	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031439	https://omim.org/phenotypicSeries/PS617877	
GO:0031128	biolink:NamedThing	developmental induction	A developmental process involving two tissues in which one tissue (the inducer) produces a signal that directs cell fate commitment of cells in the second tissue (the responder).		mondo.json		http://purl.obolibrary.org/obo/GO_0031128		
FOODON:03400260	biolink:NamedThing	nut or nut product (us cfr)	Nuts in all forms, including nut butters and pastes.	http://www.langual.org/langual_thesaurus.asp?termid=A0260	mondo.json		http://purl.obolibrary.org/obo/FOODON_03400260		
MONDO:0043424	biolink:Disease	digestive system infectious disorder	A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system.	SCTID:715852004|NCIT:C35503	mondo.json	infection of gastrointestinal tract|gastrointestinal system infection|gastrointestinal infection|digestive system infection	http://purl.obolibrary.org/obo/MONDO_0043424	http://identifiers.org/snomedct/715852004|NCIT:C35503	
GO:0006164	biolink:NamedThing	purine nucleotide biosynthetic process	The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar.		mondo.json	purine nucleotide anabolism|purine nucleotide synthesis|purine nucleotide biosynthesis|purine nucleotide formation	http://purl.obolibrary.org/obo/GO_0006164		
GO:0006165	biolink:NamedThing	nucleoside diphosphate phosphorylation	The process of introducing a phosphate group into a nucleoside diphosphate to produce a nucleoside triphosphate.		mondo.json		http://purl.obolibrary.org/obo/GO_0006165		
GO:0006163	biolink:NamedThing	purine nucleotide metabolic process	The chemical reactions and pathways involving a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar.		mondo.json	purine metabolism|purine metabolic process|purine nucleotide metabolism	http://purl.obolibrary.org/obo/GO_0006163		
GO:0045738	biolink:NamedThing	negative regulation of DNA repair	Any process that stops, prevents, or reduces the frequency, rate or extent of DNA repair.		mondo.json	down regulation of DNA repair|inhibition of DNA repair|down-regulation of DNA repair|downregulation of DNA repair	http://purl.obolibrary.org/obo/GO_0045738		
FOODON:03400267	biolink:NamedThing	seafood or seafood product (us cfr)	Flesh from fish or shellfish. Includes seafood product analogs and seafood-based sausage or luncheon meat as well as such products as squid ink and clam juice.	http://www.langual.org/langual_thesaurus.asp?termid=A0267	mondo.json		http://purl.obolibrary.org/obo/FOODON_03400267		
GO:0045739	biolink:NamedThing	positive regulation of DNA repair	Any process that activates or increases the frequency, rate or extent of DNA repair.		mondo.json	upregulation of DNA repair|up regulation of DNA repair|stimulation of DNA repair|activation of DNA repair|up-regulation of DNA repair	http://purl.obolibrary.org/obo/GO_0045739		
CHR:9606-chr11p	biolink:NamedThing	11p (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr11p		
CHR:9606-chr11q	biolink:NamedThing	11q (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr11q		
MONDO:0018491	biolink:Disease	3-phosphoglycerate dehydrogenase deficiency		SCTID:303098002|Orphanet:422519|ICD9:270.7|UMLS:C0580190	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018491	http://identifiers.org/snomedct/303098002|UMLS:C0580190|Orphanet:422519	ordo_group_of_disorders|disease_grouping
MONDO:0018490	biolink:Disease	cono-spondylar dysplasia	Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.	UMLS:CN237491|SCTID:766874001|Orphanet:420794	mondo.json	short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0018490	Orphanet:420794|http://identifiers.org/snomedct/766874001|UMLS:CN237491	ordo_malformation_syndrome
MONDO:0018493	biolink:Disease	malignant hyperthermia of anesthesia	A pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.	DOID:8545|OMIMPS:145600|SCTID:405501007|HP:0002047|UMLS:C0024591|MedDRA:10020844|ICD9:995.86|NCIT:C84869|MESH:D008305|Orphanet:423	mondo.json	anesthesia related hyperthermia|malignant hyperpyrexia due to anesthesia|malignant hyperthermia of anesthesia|hyperthermia of anesthesia|malignant hyperpyrexia|malignant hyperthermia syndrome|malignant hyperthermia	http://purl.obolibrary.org/obo/MONDO_0018493	NCIT:C84869|DOID:8545|http://identifiers.org/mesh/D008305|Orphanet:423|http://identifiers.org/snomedct/405501007|UMLS:C0024591	ordo_disease|clingen
MONDO:0018492	biolink:Disease	hereditary clear cell renal cell carcinoma	A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common.	SCTID:764961009|UMLS:CN237493|Orphanet:422526|DOID:7192|NCIT:C36260	mondo.json	hereditary clear cell renal cell adenocarcinoma|hereditary conventional (clear cell) renal cell carcinoma|Hereditary clear cell renal cell cancer|hereditary clear cell renal carcinoma|hereditary clear cell renal cell carcinoma|hereditary conventional renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0018492	DOID:7192|NCIT:C36260|http://identifiers.org/snomedct/764961009|UMLS:CN237493|Orphanet:422526	ordo_disease
MONDO:0031446	biolink:Disease	hypercholanemia, familial 1	A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.	UMLS:C1843139|MESH:C564336|Orphanet:238475|SCTID:723360007|OMIM:607748	mondo.json	hereditary hypercholanemia|FHCA1	http://purl.obolibrary.org/obo/MONDO_0031446	http://identifiers.org/mesh/C564336|http://identifiers.org/snomedct/723360007|https://omim.org/entry/607748|Orphanet:238475|UMLS:C1843139	ordo_disease
MONDO:0031447	biolink:Disease	macrothrombocytopenia, isolated		OMIMPS:613112	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031447	https://omim.org/phenotypicSeries/PS613112	
CHR:9606-chr12p	biolink:NamedThing	12p (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr12p		
CHR:9606-chr12q	biolink:NamedThing	12q (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr12q		
MONDO:0018499	biolink:Disease	double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy		Orphanet:423712	mondo.json	DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy	http://purl.obolibrary.org/obo/MONDO_0018499	Orphanet:423712	ordo_clinical_subtype
MONDO:0018498	biolink:Disease	double outlet right ventricle with subaortic or doubly committed ventricular septal defect		Orphanet:423693	mondo.json	DORV with subaortic or doubly committed VSD	http://purl.obolibrary.org/obo/MONDO_0018498	Orphanet:423693	ordo_clinical_subtype
MONDO:0018495	biolink:Disease	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.	UMLS:CN237501|Orphanet:423479	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018495	Orphanet:423479|UMLS:CN237501	ordo_disease
MONDO:0018494	biolink:Disease	microcephaly-short stature-intellectual disability-facial dysmorphism syndrome	Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.	UMLS:CN237496|Orphanet:423306	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018494	Orphanet:423306|UMLS:CN237496	ordo_malformation_syndrome
MONDO:0018497	biolink:Disease	obsolete rare autonomic nervous system disorder	OBSOLETE. Rare autonomic nervous system disease.	Orphanet:423662	mondo.json	rare autonomic nervous system disease	http://purl.obolibrary.org/obo/MONDO_0018497	Orphanet:423662	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0018496	biolink:Disease	ARX-related encephalopathy-brain malformation spectrum		Orphanet:423655	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018496	Orphanet:423655	ordo_group_of_disorders|disease_grouping
UBERON:0015152	biolink:AnatomicalEntity	gland of ocular region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015152		
MONDO:0006538	biolink:Disease	obsolete dermatitis herpetiformis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006538		
UBERON:0015155	biolink:AnatomicalEntity	conjunctival space			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015155		
MONDO:0006539	biolink:Disease	diffuse lipomatosis	A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy.	UMLS:C1333298|DOID:3923|NCIT:C6504|EFO:1000687	mondo.json	diffuse lipomatosis	http://purl.obolibrary.org/obo/MONDO_0006539	DOID:3923|NCIT:C6504|UMLS:C1333298	
UBERON:0015154	biolink:AnatomicalEntity	lateral gland of orbital region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015154		
MONDO:0006536	biolink:Disease	congenital generalized lipodystrophy	An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.	DOID:0050585|EFO:1000681|SCTID:284449005|OMIMPS:608594|HP:0009059	mondo.json	lipodystrophy, congenital generalized|familial generalized lipodystrophy|congenital generalized lipodystrophy|congenital generalized lipodystrophy (disease)|hereditary generalized lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0006536	DOID:0050585|https://omim.org/phenotypicSeries/PS608594|http://identifiers.org/snomedct/284449005	
MONDO:0006537	biolink:Disease	conjunctival pigmentation	Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron.	DOID:12304|SCTID:66081003|UMLS:C0155163|EFO:1000682|ICD9:372.55	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006537	UMLS:C0155163|DOID:12304|http://identifiers.org/snomedct/66081003	
MONDO:0006534	biolink:Disease	cholinergic urticaria	A type of physical urticarias (or hives) that appears when a person is sweating.	UMLS:C0152230|ICD10CM:L50.5|Wikipedia:Cholinergic_urticaria|ICD9:708.5|EFO:1000679|SCTID:73098005|DOID:14443	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006534	DOID:14443|http://purl.bioontology.org/ontology/ICD10CM/L50.5|UMLS:C0152230|http://identifiers.org/snomedct/73098005	
MONDO:0006535	biolink:Disease	obsolete cicatricial pemphigoid			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006535		
UBERON:0015150	biolink:AnatomicalEntity	dorsal hair			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015150		
MONDO:0006532	biolink:Disease	cholesteatoma of external ear	A cholesteatoma (disease) that involves the external ear.	UMLS:C0155398|SCTID:35247001|ICD9:380.21|ICD10CM:H60.4|EFO:1000677|DOID:9462	mondo.json	cholesteatoma (disease) of external ear|external canal cholesteatoma|external ear cholesteatoma (disease)	http://purl.obolibrary.org/obo/MONDO_0006532	UMLS:C0155398|http://identifiers.org/snomedct/35247001|DOID:9462|http://purl.bioontology.org/ontology/ICD10CM/H60.4	
MONDO:0006533	biolink:Disease	cholesteatoma of middle ear	A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear.	ICD9:385.33|SCTID:194339007|DOID:10964|ICD10CM:H71|NCIT:C3654|ICD9:385.3|ICD9:385.32|EFO:1000678|MESH:D018424|UMLS:C0155490	mondo.json	cholesteatoma of middle ear and mastoid|cholesteatoma of middle ear and/or mastoid|Epidermosis of middle ear|unspecified cholesteatoma (morphologic abnormality)|middle ear cholesteatoma|cholesteatoma (disease) of middle ear|cholesteatoma of the middle ear|cholesteatoma of middle ear|middle ear cholesteatoma (disease)|Epidermosis of ear	http://purl.obolibrary.org/obo/MONDO_0006533	http://purl.bioontology.org/ontology/ICD10CM/H71|http://identifiers.org/mesh/D018424|UMLS:C0155490|NCIT:C3654|DOID:10964|http://identifiers.org/snomedct/194339007	
MONDO:0006530	biolink:Disease	cholesteatoma	A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures.	SCTID:363668000|GARD:0010422|DOID:869|UMLS:C0008373|ICD9:385.30|MESH:D002781|HP:0009797|EFO:1000675|NCIT:C2944	mondo.json	congenital cholesteatoma (type)|cholesteatoma|cholesteatoma (disease)|secondary acquired cholesteatoma (type)|primary acquired cholesteatoma (type)	http://purl.obolibrary.org/obo/MONDO_0006530	http://identifiers.org/snomedct/363668000|http://identifiers.org/mesh/D002781|NCIT:C2944|UMLS:C0008373|DOID:869	
HP:0030850	biolink:PhenotypicFeature	Abnormal pulse pressure	An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure.	UMLS:C0855322	mondo.json		http://purl.obolibrary.org/obo/HP_0030850		
MONDO:0006531	biolink:Disease	cholesteatoma of attic	A cholesteatoma in the attic	ICD9:385.31|UMLS:C0155489|DOID:10963|EFO:1000676|SCTID:38708003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006531	http://identifiers.org/snomedct/38708003|UMLS:C0155489|DOID:10963	
HP:0003225	biolink:PhenotypicFeature	Reduced coagulation factor V activity	Decreased activity of coagulation factor V.	SNOMEDCT_US:4320005|SNOMEDCT_US:88776002|MSH:D005166|UMLS:C0015499	mondo.json	Factor V deficiency|Reduced factor V activity	http://purl.obolibrary.org/obo/HP_0003225		
MONDO:0018529	biolink:Disease	qualitative or quantitative defects of Torsin-1A-interacting protein 1		Orphanet:424925	mondo.json	qualitative or quantitative defects of Torsin-1A-interacting protein type 1	http://purl.obolibrary.org/obo/MONDO_0018529	Orphanet:424925	ordo_group_of_disorders|disease_grouping
MONDO:0018528	biolink:Disease	congenital myopathy with myasthenic-like onset	Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.	SCTID:763315005|Orphanet:424107	mondo.json	congenital myopathy with myasthenic-like onset	http://purl.obolibrary.org/obo/MONDO_0018528	http://identifiers.org/snomedct/763315005|Orphanet:424107	ordo_disease
MONDO:0018525	biolink:Disease	solid pseudopapillary carcinoma of pancreas	A malignant neoplasm arising from the exocrine pancreas. It occurs predominantly in young women. It is characterized by the presence of extensive necrosis and hemorrhage and is composed of polyhedral cells forming solid and pseudopapillary patterns. There is morphologic evidence of perineural invasion, vascular invasion, or extensive invasion into the surrounding tissues.	UMLS:C1336029|Orphanet:424065|DOID:6827|NCIT:C5728|ICDO:8452/3|EFO:1000542	mondo.json	solid pseudopapillary carcinoma of pancreas|solid pseudopapillary carcinoma of the pancreas|solid pseudopapillary neoplasm of the pancreas|pancreatic solid pseudopapillary carcinoma	http://purl.obolibrary.org/obo/MONDO_0018525	UMLS:C1336029|NCIT:C5728|Orphanet:424065|DOID:6827	ordo_disease
MONDO:0018524	biolink:Disease	obsolete intraductal papillary mucinous carcinoma of pancreas			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018524		
HP:0030852	biolink:PhenotypicFeature	High pulse pressure	Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).	UMLS:C0855323	mondo.json		http://purl.obolibrary.org/obo/HP_0030852		
MONDO:0018527	biolink:Disease	osteoclastic giant cell tumor of pancreas		Orphanet:424080|UMLS:CN237530	mondo.json	undifferentiated carcinoma of pancreas with osteoclast-like giant cells|OGCT of pancreas|pancreatic undifferentiated carcinoma with osteoclast-like giant cells|pancreatic osteoclastic giant cell tumor	http://purl.obolibrary.org/obo/MONDO_0018527	UMLS:CN237530|Orphanet:424080	obsoletion_candidate|ordo_disease
MONDO:0018526	biolink:Disease	obsolete serous cystadenocarcinoma of pancreas			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018526		
MONDO:0018521	biolink:Disease	squamous cell carcinoma of pancreas	A squamous cell carcinoma that involves the pancreas.	Orphanet:424039|UMLS:C2675993|DOID:0080323|UMLS:CN237524	mondo.json	pancreatic squamous cell carcinoma|pancreas squamous cell carcinoma|squamous cell carcinoma of the pancreas	http://purl.obolibrary.org/obo/MONDO_0018521	UMLS:C2675993|Orphanet:424039|DOID:0080323|UMLS:CN237524	ordo_disease
MONDO:0018520	biolink:Disease	obsolete rare epithelial tumor of pancreas		Orphanet:424033|UMLS:CN237523	mondo.json	rare pancreatic epithelial tumor	http://purl.obolibrary.org/obo/MONDO_0018520	Orphanet:424033|UMLS:CN237523	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0018523	biolink:Disease	pancreatic mucinous cystadenoma	A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of columnar, mucin-producing epithelial cells. It occurs almost exclusively in women. Large tumors are often accompanied by a palpable abdominal mass.	DOID:7235|Orphanet:424053|NCIT:C5718|DOID:7735	mondo.json	pancreatic mucinous cystadenocarcinoma|colloid cystadenoma of pancreas|pancreatic mucinous cystadenoma|colloid cystadenoma of the pancreas|mucinous cystadenoma of the pancreas|mucinous cystadenocarcinoma of the pancreas|pancreatic colloidal cystadenoma|pancreatic mucinous cystic neoplasm|colloidal cystadenoma of pancreas|colloidal cystadenoma of the pancreas|pancreas mucinous cystadenoma|mucinous cystadenoma of pancreas|pancreatic colloid cystadenoma	http://purl.obolibrary.org/obo/MONDO_0018523	NCIT:C5718|DOID:7235|Orphanet:424053|DOID:7735	ordo_disease
MONDO:0018522	biolink:Disease	obsolete acinar cell carcinoma of pancreas			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018522		
HGNC:1582	biolink:NamedThing	CCND1			mondo.json		http://identifiers.org/hgnc/1582		
HGNC:1583	biolink:NamedThing	CCND2			mondo.json		http://identifiers.org/hgnc/1583		
UBERON:0015142	biolink:AnatomicalEntity	falciform fat			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015142		
MONDO:0006549	biolink:Disease	fibroepithelial polyp of the anus	A non-neoplastic polypoid lesion that arises from the anal canal or perianal skin. It is composed of dense fibrous stroma and it is covered by squamous epithelium.	SCTID:195469007|DOID:8170|NCIT:C4435|EFO:1000699	mondo.json	anus skin tag|anal fibrous polyp|anal fibroepithelial polyp|fibrous polyp of anus|anal tag|fibrous polyp of the anus|skin tag of anus|fibroepithelial polyp of anus	http://purl.obolibrary.org/obo/MONDO_0006549	http://identifiers.org/snomedct/195469007|DOID:8170|NCIT:C4435	
UBERON:0015144	biolink:AnatomicalEntity	autopod hair			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015144		
UBERON:0015143	biolink:AnatomicalEntity	mesenteric fat pad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015143		
MONDO:0006547	biolink:Disease	exanthem	Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful.	MESH:D005076|Wikipedia:Exanthem|NCIT:C39594|DOID:0050486|EFO:1000697|SCTID:271807003|ICD9:782.1|HP:0000988	mondo.json	skin Rash|cutaneous eruption|exanthem|exanthem (disease)|exanthema|Rash|skin eruption	http://purl.obolibrary.org/obo/MONDO_0006547	http://identifiers.org/mesh/D005076|NCIT:C39594|DOID:0050486|http://identifiers.org/snomedct/271807003	
MONDO:0006548	biolink:Disease	facial dermatosis	Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder.	DOID:3134|UMLS:C0015456|EFO:1000698|MESH:D005148	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006548	DOID:3134|http://identifiers.org/mesh/D005148|UMLS:C0015456	
MONDO:0006545	biolink:Disease	erythema multiforme	Erythema multiforme (EM) refers to a group ofhypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN).	SCTID:36715001|MESH:D004892|ICD9:695.1|UMLS:C0014742|ICD10CM:L51|ICD9:695.10|GARD:0006372|NCIT:C3024|EFO:1000694|DOID:0050185	mondo.json	febrile mucocutaneous syndrome|Herpes iris, erythema multiforme type|Dermatostomatitis, erythema multiforme type|EM|erythema multiforme bullosum|erythema polymorphe, erythema multiforme type	http://purl.obolibrary.org/obo/MONDO_0006545	http://purl.bioontology.org/ontology/ICD10CM/L51|NCIT:C3024|http://identifiers.org/mesh/D004892|http://identifiers.org/snomedct/36715001|UMLS:C0014742|DOID:0050185	gard_rare
MONDO:0006546	biolink:Disease	erythematosquamous dermatosis	A skin condition that primarily affects the scalp and face and presents as scaly inflammation. Examples include itchy, dry skin and dandruff.	DOID:9097|NCIT:C34591|SCTID:54792008|UMLS:C0014747|ICD9:690|ICD9:690.8|EFO:1000695	mondo.json	Other erythematosquamous dermatosis|erythematosquamous dermatosis	http://purl.obolibrary.org/obo/MONDO_0006546	DOID:9097|http://identifiers.org/snomedct/54792008|UMLS:C0014747|NCIT:C34591	
MONDO:0006543	biolink:Disease	epidermolysis bullosa dystrophica	A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes.	Orphanet:303|ICD9:757.39|DOID:4959|SCTID:254185007|GARD:0002150|MESH:D016108|NCIT:C84691|Wikipedia:Epidermolysis_bullosa_dystrophica|EFO:1000692	mondo.json	epidermolysis bullosa, dermolytic|dermolytic epidermolysis bullosa|epidermolysis bullosa dystrophica|DEB	http://purl.obolibrary.org/obo/MONDO_0006543	DOID:4959|http://identifiers.org/mesh/D016108|NCIT:C84691|http://identifiers.org/snomedct/254185007|Orphanet:303	ordo_group_of_disorders|disease_grouping
MONDO:0006544	biolink:Disease	erythema infectiosum	A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern.	SCTID:34730008|UMLS:C0085273|NCIT:C84695|MESH:D016731|DOID:8743|ICD9:057.0|EFO:1000693	mondo.json	fifth disease	http://purl.obolibrary.org/obo/MONDO_0006544	NCIT:C84695|http://identifiers.org/mesh/D016731|DOID:8743|http://identifiers.org/snomedct/34730008|UMLS:C0085273	
UBERON:0015149	biolink:AnatomicalEntity	ventral hair			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015149		
MONDO:0006541	biolink:Disease	epidermolysis bullosa	Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool.	ICD9:757.39|EFO:1000690|MESH:D004820|SCTID:61003004|NCIT:C67383|ICD10CM:Q81|Wikipedia:Epidermolysis_bullosa|DOID:2730|GARD:0006359	mondo.json	acantholysis bullosa|EB|epidermolysis bullosa	http://purl.obolibrary.org/obo/MONDO_0006541	DOID:2730|http://identifiers.org/snomedct/61003004|http://purl.bioontology.org/ontology/ICD10CM/Q81|NCIT:C67383|http://identifiers.org/mesh/D004820	gard_rare
MONDO:0006542	biolink:Disease	obsolete epidermolysis bullosa acquisita	OBSOLETE. A chronic autoimmune inflammatory disorder characterized by the formation of subepidermal blisters in the skin and the mucous membranes.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0006542		
UBERON:0015146	biolink:AnatomicalEntity	manus hair			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015146		
MONDO:0006540	biolink:Disease	dyshidrosis	A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed)	ICD9:705.81|ICD9:692.9|EFO:1000688|UMLS:C0032633|Wikipedia:Dyshidrosis|DOID:9230|MESH:D011146|SCTID:402567004	mondo.json	pompholyx|vesicular eczema of hands and/or feet|cheiropompholyx|dyshidrosis|DYSHYDROTIC eczema	http://purl.obolibrary.org/obo/MONDO_0006540	DOID:9230|UMLS:C0032633|http://identifiers.org/snomedct/402567004|http://identifiers.org/mesh/D011146	
UBERON:0015145	biolink:AnatomicalEntity	pes hair			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015145		
UBERON:0015148	biolink:AnatomicalEntity	tail hair			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015148		
UBERON:0015147	biolink:AnatomicalEntity	pinna hair			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015147		
MONDO:0018518	biolink:Disease	obsolete adenocarcinoma of the anal canal			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018518		
FOODON:00002454	biolink:NamedThing	food product by quality	A class which contains food product categories qualified by a quality such as granularity or temperature, which is useful for tasks like food inspection where little prior knowledge of how the food came to be is available. Some terms like "food (frozen)" are both a quality descriptor and the output of a process.		mondo.json		http://purl.obolibrary.org/obo/FOODON_00002454		
MONDO:0018517	biolink:Disease	obsolete obsolete carcinoma of the anal canal			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018517		
FOODON:00002451	biolink:NamedThing	food transformation process	A process involving the physical transformation of a food source or food product into some derived organic material or food product		mondo.json		http://purl.obolibrary.org/obo/FOODON_00002451		
FOODON:00002452	biolink:NamedThing	invertebrate animal	Invertebrates are animals that neither possess nor develop a vertebral column (commonly known as a backbone or spine), derived from the notochord. This includes all animals apart from the subphylum Vertebrata.		mondo.json	animal	http://purl.obolibrary.org/obo/FOODON_00002452		
MONDO:0018519	biolink:Disease	obsolete squamous cell carcinoma of the anal canal			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018519		
MONDO:0018514	biolink:Disease	obsolete rare epithelial tumor of rectum	OBSOLETE. Any of the forms of epithelial neoplasm of rectum that have a rare incidence.	UMLS:CN237519|Orphanet:423998	mondo.json	rare epithelial neoplasm of rectum|rare rectal epithelial tumor	http://purl.obolibrary.org/obo/MONDO_0018514	UMLS:CN237519|Orphanet:423998	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0018513	biolink:Disease	squamous cell carcinoma of colon	A squamous cell carcinoma that involves the colon.	UMLS:C1333100|Orphanet:423994|SCTID:766981007|UMLS:CN237518|DOID:5519|NCIT:C5490	mondo.json	colonic epidermoid carcinoma|colon squamous cell cancer|epidermoid carcinoma of the colon|epidermoid carcinoma of colon|squamous cell colon carcinoma|squamous cell carcinoma of colon|colonic squamous cell carcinoma|colon epidermoid carcinoma|squamous cell carcinoma of the colon|colon squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0018513	UMLS:CN237518|Orphanet:423994|NCIT:C5490|http://identifiers.org/snomedct/766981007|UMLS:C1333100|DOID:5519	ordo_disease
MONDO:0018516	biolink:Disease	epithelial tumor of anal canal	A epithelial neoplasm that involves the anal canal.	UMLS:CN237521|Orphanet:424010	mondo.json	anal canal epithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0018516	UMLS:CN237521|Orphanet:424010	disease_grouping|ordo_group_of_disorders
MONDO:0018515	biolink:Disease	squamous cell carcinoma of rectum	A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate.	UMLS:C1335690|SCTID:766979005|NCIT:C5554|Orphanet:424002|DOID:5528	mondo.json	squamous carcinoma of rectum|rectal squamous cell carcinoma|squamous cell carcinoma of the rectum|squamous carcinoma of the rectum|rectum squamous cell carcinoma|squamous cell carcinoma of rectum|rectal squamous carcinoma|rectal squamous cell cancer	http://purl.obolibrary.org/obo/MONDO_0018515	DOID:5528|http://identifiers.org/snomedct/766979005|NCIT:C5554|UMLS:C1335690|Orphanet:424002	ordo_disease
MONDO:0018510	biolink:Disease	small intestine neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	DOID:4434|Orphanet:423975|NCIT:C5803|UMLS:C1336005|UMLS:CN237515	mondo.json	small intestine neuroendocrine neoplasm|neuroendocrine tumor of the small intestine|neuroendocrine tumor of small bowel|small intestinal neuroendocrine neoplasm|NET of the small intestine|small intestine neuroendocrine tumor|small intestine NET|neuroendocrine neoplasm of small intestine|neuroendocrine neoplasm of the small intestine|small intestine neuroendocrine tumor, well differentiated, low or intermediate grade	http://purl.obolibrary.org/obo/MONDO_0018510	UMLS:CN237515|DOID:4434|Orphanet:423975|UMLS:C1336005|NCIT:C5803	disease_grouping|ordo_group_of_disorders
MONDO:0018512	biolink:Disease	obsolete rare epithelial tumor of colon	OBSOLETE. Any of the forms of epithelial tumor of colon that have a rare incidence.	UMLS:CN237517|Orphanet:423991	mondo.json	rare epithelial tumor of colon	http://purl.obolibrary.org/obo/MONDO_0018512	UMLS:CN237517|Orphanet:423991	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0018511	biolink:Disease	epithelial tumor of the appendix	A epithelial neoplasm that involves the vermiform appendix.	Orphanet:423982|UMLS:CN237516	mondo.json	appendiceal epithelial tumor|vermiform appendix epithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0018511	UMLS:CN237516|Orphanet:423982	ordo_group_of_disorders|disease_grouping
HP:0003231	biolink:PhenotypicFeature	Hypertyrosinemia	An increased concentration of tyrosine in the blood.	UMLS:C1879362|SNOMEDCT_US:56595005	mondo.json	Increased tyrosine in blood|Tyrosinemia	http://purl.obolibrary.org/obo/HP_0003231		
HGNC:1596	biolink:NamedThing	CCNK			mondo.json		http://identifiers.org/hgnc/1596		
MONDO:0006518	biolink:Disease	sporadic Creutzfeld Jacob disease	Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years.	EFO:1000656	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006518		
MONDO:0006519	biolink:Disease	rectal cancer	A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma.	NCIT:C7418|DOID:1993|ICD9:154.1|SCTID:363351006|EFO:1000657	mondo.json	carcinoma of rectum|malignant rectal tumor|malignant rectum neoplasm|malignant neoplasm of the rectum|cancer of rectum|rectal cancer|carcinoma of the rectum|malignant neoplasm of rectum|malignant rectal neoplasm|malignant tumor of rectum|rectum cancer|malignant rectum tumor|malignant tumor of the rectum	http://purl.obolibrary.org/obo/MONDO_0006519	http://identifiers.org/snomedct/363351006|NCIT:C7418|DOID:1993	
UBERON:0015130	biolink:AnatomicalEntity	connective tissue of prostate gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015130		
MONDO:0006516	biolink:Disease	sarcopenia	Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles.	EFO:1000653|ICD10CM:M62.84|MedDRA:10063024|UMLS:C0872084|MESH:D055948	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006516	http://purl.bioontology.org/ontology/ICD10CM/M62.84|UMLS:C0872084|http://identifiers.org/mesh/D055948	
MONDO:0006517	biolink:Disease	childhood malignant neoplasm	A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor).	EFO:1000654|NCIT:C4005|UMLS:C0278704	mondo.json	malignant pediatric tumor|malignant pediatric neoplasm|childhood cancer|malignant childhood tumor|pediatric cancer|malignant childhood neoplasm|childhood malignant neoplasm|childhood neoplasm, malignant|malignant neoplasm	http://purl.obolibrary.org/obo/MONDO_0006517	UMLS:C0278704|NCIT:C4005	
MONDO:0006514	biolink:Disease	recalcitrant atopic dermatitis	Moderate to severe atopic dermatitis with allergic sensitisation.	EFO:1000651|PMID:25935106	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006514		
MONDO:0006515	biolink:Disease	acute pancreatitis	An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs.	EFO:1000652|UMLS:C0001339|ICD9:577.0|SCTID:7881005|NCIT:C95437|Wikipedia:Acute_pancreatitis|HP:0001735|DOID:2913|MESH:D019283|UMLS:C0267941	mondo.json	acute necrotizing pancreatitis|pancreatitis necrotizing|pancreatitis, acute|acute pancreatitis (disorder) [ambiguous]	http://purl.obolibrary.org/obo/MONDO_0006515	UMLS:C0001339|UMLS:C0267941|http://identifiers.org/snomedct/7881005|http://identifiers.org/mesh/D019283|DOID:2913|NCIT:C95437	
NCBITaxon:1113537	biolink:OrganismalEntity	Chlamydia/Chlamydophila group		PMID:11211265|PMID:21048222|PMID:21048221|PMID:23620152|GC_ID:11|PMID:10319462	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1113537		
MONDO:0006512	biolink:Disease	estrogen-receptor positive breast cancer	A subtype of breast cancer that is estrogen-receptor positive	DOID:0060075|EFO:1000649	mondo.json	ER+ breast cancer|estrogen receptor positive breast cancer	http://purl.obolibrary.org/obo/MONDO_0006512	DOID:0060075	
MONDO:0006513	biolink:Disease	estrogen-receptor negative breast cancer	A subtype of breast cancer that is estrogen-receptor negative	EFO:1000650|DOID:0060076	mondo.json	ER- breast cancer	http://purl.obolibrary.org/obo/MONDO_0006513	DOID:0060076	
MONDO:0006510	biolink:Disease	renal tubular transport disease	Genetic defects in the selective or non-selective transport functions of the kidney tubules.	UMLS:C0035091|DOID:447|EFO:1000647|MESH:D015499	mondo.json	kidney tubular transport, inborn errors|disorder of renal absorption|kidney tubular transport, inborn error|inborn renal tubular transport disorder|renal tubular transport errors|renal tubular transport, inborn error|renal absorption disease	http://purl.obolibrary.org/obo/MONDO_0006510	DOID:447|UMLS:C0035091|http://identifiers.org/mesh/D015499	
MONDO:0006511	biolink:Disease	obsolete developmental dysplasia of the hip			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006511		
MONDO:0018507	biolink:Disease	microcephaly-complex motor and sensory axonal neuropathy syndrome	Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.	UMLS:CN237512|Orphanet:423894	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018507	UMLS:CN237512|Orphanet:423894	ordo_disease
HP:0003202	biolink:PhenotypicFeature	Skeletal muscle atrophy	The presence of skeletal muscular atrophy (which is also known as amyotrophy).	MSH:D009133|SNOMEDCT_US:74035001|UMLS:C0234958|UMLS:C0270948|UMLS:C1843479|UMLS:C0541794	mondo.json	Muscle atrophy, neurogenic|Muscle degeneration|Neurogenic muscle atrophy|Amyotrophy|Muscle atrophy|Neurogenic muscular atrophy|Muscular atrophy|Neurogenic muscle atrophy, especially in the lower limbs|Muscle wasting|Amyotrophy involving the extremities|Muscle hypotrophy	http://purl.obolibrary.org/obo/HP_0003202		
MONDO:0018506	biolink:Disease	mesenchymal tumor of small intestine		UMLS:CN237511|Orphanet:423798	mondo.json	mesenchymal tumor of small bowel	http://purl.obolibrary.org/obo/MONDO_0018506	UMLS:CN237511|Orphanet:423798	ordo_group_of_disorders|disease_grouping
MONDO:0018509	biolink:Disease	squamous cell carcinoma of the small intestine	A carcinoma that arises from the small intestine. It is composed of malignant squamous cells.	Orphanet:423968|UMLS:CN237514|UMLS:C1710111|NCIT:C43534	mondo.json	squamous cell carcinoma of the small bowel|small intestinal squamous cell cancer|small intestinal squamous cell carcinoma|small intestine squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0018509	UMLS:C1710111|UMLS:CN237514|Orphanet:423968|NCIT:C43534	ordo_disease
MONDO:0018508	biolink:Disease	obsolete rare carcinoma of small intestine	OBSOLETE. Any of the forms of small intestine carcinoma that have a rare incidence.	Orphanet:423957	mondo.json	rare small intestine carcinoma|rare carcinoma of small bowel	http://purl.obolibrary.org/obo/MONDO_0018508	Orphanet:423957	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0018503	biolink:Disease	carcinoma of stomach, salivary gland type		Orphanet:423781|UMLS:CN237508	mondo.json	gastric carcinoma, salivary gland type	http://purl.obolibrary.org/obo/MONDO_0018503	UMLS:CN237508|Orphanet:423781	ordo_disease
GO:0080090	biolink:NamedThing	regulation of primary metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism involving those compounds formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism.		mondo.json		http://purl.obolibrary.org/obo/GO_0080090		
MONDO:0018502	biolink:Disease	hereditary gastric cancer	Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome.	Orphanet:423776	mondo.json	hereditary gastric cancer|hereditary cancer of stomach	http://purl.obolibrary.org/obo/MONDO_0018502	Orphanet:423776	disease_grouping|ordo_group_of_disorders
MONDO:0018505	biolink:Disease	obsolete rare tumor of small intestine	OBSOLETE. Any of the forms of small intestine neoplasm that have a rare incidence.	Orphanet:423793|UMLS:CN237510	mondo.json	rare tumor of small bowel|rare small intestine neoplasm	http://purl.obolibrary.org/obo/MONDO_0018505	UMLS:CN237510|Orphanet:423793	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
HP:0030875	biolink:PhenotypicFeature	Abnormality of pulmonary circulation	A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart.	UMLS:C4280730	mondo.json	Abnormality of respiratory circulation|Abnormal pulmonary circulation	http://purl.obolibrary.org/obo/HP_0030875		
MONDO:0018504	biolink:Disease	undifferentiated carcinoma of stomach	A carcinoma that arises from the stomach and is characterized by the absence of microscopic features of glandular or squamous differentiation.	SCTID:766757006|ONCOTREE:USTAD|UMLS:C1336858|NCIT:C5476|Orphanet:423786|UMLS:CN237509	mondo.json	undifferentiated carcinoma of the stomach|undifferentiated stomach adenocarcinoma|undifferentiated carcinoma of stomach|anaplastic carcinoma of the stomach|anaplastic carcinoma of stomach|undifferentiated gastric carcinoma|anaplastic gastric carcinoma|stomach undifferentiated carcinoma|undifferentiated gastric (stomach) cancer|Gastric undifferentiated carcinoma	http://purl.obolibrary.org/obo/MONDO_0018504	UMLS:CN237509|Orphanet:423786|http://identifiers.org/snomedct/766757006|NCIT:C5476|UMLS:C1336858	ordo_disease
MONDO:0018501	biolink:Disease	obsolete rare carcinoma of stomach	OBSOLETE. Rare stomach carcinoma.	Orphanet:423771	mondo.json	rare gastric carcinoma|rare stomach carcinoma	http://purl.obolibrary.org/obo/MONDO_0018501	Orphanet:423771	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0018500	biolink:Disease	cutaneous larva migrans	Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpinginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances.	SCTID:19362000|ICD9:126.9|GARD:0001629|MESH:D007815|Orphanet:423717	mondo.json	creeping eruption|dew itch|ground itch|CLM	http://purl.obolibrary.org/obo/MONDO_0018500	Orphanet:423717|http://identifiers.org/mesh/D007815|http://identifiers.org/snomedct/19362000	ordo_disease|gard_rare
NCBITaxon:33993	biolink:OrganismalEntity	Neorickettsia		PMID:11760958|GC_ID:11|PMID:7537065	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_33993		
MONDO:0006509	biolink:Disease	papillary carcinoma	A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma.	EFO:1000646|NCIT:C2927|MESH:D002291|DOID:3113|ICDO:8050/3|UMLS:C0007133	mondo.json	papillary carcinoma|papillary carcinoma NOS (morphologic abnormality)|papillary carcinoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0006509	http://identifiers.org/mesh/D002291|NCIT:C2927|DOID:3113|UMLS:C0007133	
MONDO:0006529	biolink:Disease	obsolete bullous skin disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006529		
MONDO:0006527	biolink:Disease	anhidrosis	Lack of sweating or the ability to sweat when provoked by the appropriate stimulus.	SCTID:39659002|ICD10CM:L74.4|ICD9:705.0|EFO:1000670|DOID:11156|MESH:D007007	mondo.json	adiaphoresis|absence of sweating	http://purl.obolibrary.org/obo/MONDO_0006527	http://purl.bioontology.org/ontology/ICD10CM/L74.4|http://identifiers.org/snomedct/39659002|DOID:11156	
MONDO:0006528	biolink:Disease	bacterial exanthem	A bacteria-induced exanthem	DOID:0050487|EFO:1000671	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006528	DOID:0050487	
HP:0040202	biolink:PhenotypicFeature	Abnormal consumption behavior		UMLS:C4073150	mondo.json	Abnormal consumption behaviour	http://purl.obolibrary.org/obo/HP_0040202		
MONDO:0006525	biolink:Disease	allergic contact dermatitis	An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak.	ICD10CM:L23|UMLS:C0162820|EFO:1000668|SCTID:238575004|DOID:3042|ICD9:692.9|NCIT:C26998|MESH:D017449	mondo.json	allergic contact dermatitis|allergic form of contact dermatitis	http://purl.obolibrary.org/obo/MONDO_0006525	DOID:3042|UMLS:C0162820|http://purl.bioontology.org/ontology/ICD10CM/L23|http://identifiers.org/mesh/D017449|NCIT:C26998|http://identifiers.org/snomedct/238575004	
MONDO:0006526	biolink:Disease	allergic urticaria	A urticaria with a basis in a pathological type I hypersensitivity reaction.	ICD10CM:L50.0|Wikipedia:Urticaria#Allergic_urticaria|DOID:10612|SCTID:40178009|ICD9:708.0|EFO:1000669|UMLS:C0149526	mondo.json	allergic urticaria (disease)|allergic form of urticaria (disease)|allergic form of urticaria	http://purl.obolibrary.org/obo/MONDO_0006526	http://purl.bioontology.org/ontology/ICD10CM/L50.0|DOID:10612|UMLS:C0149526|http://identifiers.org/snomedct/40178009	
UBERON:1100000	biolink:AnatomicalEntity	digestive tract junction			mondo.json		http://purl.obolibrary.org/obo/UBERON_1100000		
MONDO:0006523	biolink:Disease	acrodermatitis	An inflammatory skin condition affecting children. It is often associated with Epstein-Barr virus infection, hepatitis B infection or cytomegalovirus infection. It is characterized by the presence of cutaneous rashes and patches on the palms and soles. The trunk is not affected.	MESH:D000169|UMLS:C0001197|GARD:0005722|DOID:2722|ICD9:686.8|CSP:4008-0032|EFO:1000664|SCTID:8197001|NCIT:C84532	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006523	DOID:2722|NCIT:C84532|UMLS:C0001197|http://identifiers.org/snomedct/8197001|http://identifiers.org/mesh/D000169	gard_rare
CHEBI:83925	biolink:ChemicalSubstance	non-proteinogenic alpha-amino acid	Any  alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.		mondo.json	non-proteinogenic alpha-amino acids|non-proteinogenic alpha-amino-acid|non-proteinogenic alpha-amino-acids	http://purl.obolibrary.org/obo/CHEBI_83925		
MONDO:0006524	biolink:Disease	acrodermatitis chronica atrophicans	An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis.	ICD9:701.8|ICD10CM:L90.4|DOID:0060344|SCTID:4340003|UMLS:C0263421|DERMO:0002165|EFO:1000665	mondo.json	Herxheimer disease|primary diffuse atrophy	http://purl.obolibrary.org/obo/MONDO_0006524	UMLS:C0263421|DOID:0060344|http://identifiers.org/snomedct/4340003|http://purl.bioontology.org/ontology/ICD10CM/L90.4	
MONDO:0043510	biolink:Disease	brain injury	Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits.	Orphanet:90056|MESH:D001930	mondo.json	brain trauma|injury of brain|brain injury|brain Traumas	http://purl.obolibrary.org/obo/MONDO_0043510	http://identifiers.org/mesh/D001930	
MONDO:0006521	biolink:Disease	acneiform dermatitis	Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids).	UMLS:C0234894|NCIT:C35277|DOID:4399|EFO:1000662	mondo.json	Rash acneiform	http://purl.obolibrary.org/obo/MONDO_0006521	DOID:4399|UMLS:C0234894|NCIT:C35277	
UBERON:0015128	biolink:AnatomicalEntity	subepicardial layer of epicardium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015128		
MONDO:0006522	biolink:Disease	acquired keratosis	Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications.	SCTID:400166009|NCIT:C34746|DOID:13072|ICD9:701.1|EFO:1000663	mondo.json	acquired keratoderma|keratoderma - acquired|keratoderma, acquired|acquired hyperkeratosis|acquired keratosis	http://purl.obolibrary.org/obo/MONDO_0006522	DOID:13072|NCIT:C34746|http://identifiers.org/snomedct/400166009	
MONDO:0043512	biolink:Disease	traumatic encephalopathy	Encephalopathy resulting from trauma.	SCTID:230282000|NCIT:C35542|EFO:1001277	mondo.json	post-traumatic dementia|dementia due to head trauma|post-traumatic brain syndrome|traumatic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0043512	NCIT:C35542|http://identifiers.org/snomedct/230282000	
MONDO:0006520	biolink:Disease	Achenbach syndrome	A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days.	NCIT:C35467|PMID:22915534|SCTID:238824006|DOID:6687|EFO:1000661	mondo.json	paroxysmal hematoma of the finger|Achenbach syndrome	http://purl.obolibrary.org/obo/MONDO_0006520	http://identifiers.org/snomedct/238824006|DOID:6687|NCIT:C35467	
UBERON:0015129	biolink:AnatomicalEntity	epicardial fat			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015129		
FOODON:00002471	biolink:NamedThing	prepared seafood product			mondo.json		http://purl.obolibrary.org/obo/FOODON_00002471		
FOODON:00002470	biolink:NamedThing	food object quality			mondo.json		http://purl.obolibrary.org/obo/FOODON_00002470		
NCBITaxon:33988	biolink:OrganismalEntity	Rickettsieae		GC_ID:11|PMID:8240958|PMID:11760958	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_33988		
CHEBI:22978	biolink:ChemicalSubstance	cadmium molecular entity			mondo.json	cadmium molecular entities|cadmium compounds	http://purl.obolibrary.org/obo/CHEBI_22978		
CHEBI:22977	biolink:ChemicalSubstance	cadmium atom			mondo.json	cadmio|cadmium|48Cd|Kadmium|Cd|cadmium	http://purl.obolibrary.org/obo/CHEBI_22977		
MONDO:0006578	biolink:Disease	mediastinal lipomatosis	A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the mediastinum.	EFO:1000732|UMLS:C1334662|DOID:3926|NCIT:C27488	mondo.json	mediastinal lipomatosis	http://purl.obolibrary.org/obo/MONDO_0006578	UMLS:C1334662|DOID:3926|NCIT:C27488	
MONDO:0006579	biolink:Disease	melanoacanthoma	A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes.	EFO:1000733|Wikipedia:Melanocanthoma|DOID:11684|NCIT:C27548|UMLS:C1321683|SCTID:394727000	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006579	DOID:11684|http://identifiers.org/snomedct/394727000|UMLS:C1321683|NCIT:C27548	
MONDO:0006576	biolink:Disease	Ludwig's angina	Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed)	UMLS:C3247204|SCTID:196542004|MESH:D008158|EFO:1000730|Wikipedia:Ludwig's_angina|UMLS:C0024081|DOID:4558|ICD9:528.3	mondo.json	cellulitis (disease) of mouth floor|mouth floor cellulitis (disease)|cellulitis of floor of mouth|Ludwig angina	http://purl.obolibrary.org/obo/MONDO_0006576	http://identifiers.org/mesh/D008158|http://identifiers.org/snomedct/196542004|UMLS:C0024081|DOID:4558|UMLS:C3247204	
NCBITaxon:136	biolink:OrganismalEntity	Spirochaetales		PMID:11542017|PMID:23908650|PMID:11075904|GC_ID:11|PMID:16558735|PMID:1917844	mondo.json	spirochetes	http://purl.obolibrary.org/obo/NCBITaxon_136		
MONDO:0006577	biolink:Disease	maxillary sinus cholesteatoma	A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment.	DOID:867|UMLS:C1334644|EFO:1000731|NCIT:C35868	mondo.json	maxillary sinus cholesteatoma (disease)|cholesteatoma (disease) of maxillary sinus	http://purl.obolibrary.org/obo/MONDO_0006577	UMLS:C1334644|NCIT:C35868|DOID:867	
MONDO:0006574	biolink:Disease	lipomatosis	A neoplastic process characterized by diffuse overgrowth of mature adipose tissue.	SCTID:402693001|ICD9:272.8|UMLS:C0023801|Wikipedia:Lipomatosis|DOID:3153|EFO:1000728|NCIT:C3193|MESH:D008068	mondo.json	Madelung disease|Launois-Bensaude syndrome|lipomatosis|Madelung's disease	http://purl.obolibrary.org/obo/MONDO_0006574	NCIT:C3193|http://identifiers.org/snomedct/402693001|http://identifiers.org/mesh/D008068|DOID:3153|UMLS:C0023801	
MONDO:0006575	biolink:Disease	obsolete loiasis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006575		
MONDO:0006572	biolink:Disease	lichen planus	A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus.	ICD9:697.0|MESH:D008010|NCIT:C3189|SCTID:4776004|ICD10CM:L43|EFO:1000726|UMLS:C0023646|DOID:9201	mondo.json	ruber planus|lichen ruber planus|lichen, ruber planus	http://purl.obolibrary.org/obo/MONDO_0006572	NCIT:C3189|http://identifiers.org/mesh/D008010|UMLS:C0023646|http://purl.bioontology.org/ontology/ICD10CM/L43|http://identifiers.org/snomedct/4776004|DOID:9201	
NCBITaxon:139	biolink:OrganismalEntity	Borreliella burgdorferi		PMID:7981102|PMID:8995796|PMID:7699027|PMID:1380285|PMID:9336916|PMID:24744012|GC_ID:11|PMID:1503971	mondo.json	Borrelia burgdorferi|Lyme disease spirochete	http://purl.obolibrary.org/obo/NCBITaxon_139		
MONDO:0006573	biolink:Disease	lipodystrophy	A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body.	MESH:D008060|UMLS:C0023787|HP:0009125|Wikipedia:Lipodystrophy|NCIT:C97093|ICD9:272.6|DOID:811|SCTID:71325002|EFO:1000727	mondo.json	lipodsystrophic syndrome|lipodsystrophic syndromes|lipodystrophy|lipodystrophy (disease)	http://purl.obolibrary.org/obo/MONDO_0006573	http://identifiers.org/mesh/D008060|DOID:811|http://identifiers.org/snomedct/71325002|UMLS:C0023787|NCIT:C97093	
MONDO:0006570	biolink:Disease	lichen disease	A long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin.	DOID:8574|UMLS:C0023643|SCTID:88996004|ICD9:697.9|ICD9:697|ICD9:697.8|EFO:1000724	mondo.json	lichen condition|lichen	http://purl.obolibrary.org/obo/MONDO_0006570	UMLS:C0023643|http://identifiers.org/snomedct/88996004|DOID:8574	
NCBITaxon:137	biolink:OrganismalEntity	Spirochaetaceae		PMID:23908650|GC_ID:11	mondo.json	Treponemataceae	http://purl.obolibrary.org/obo/NCBITaxon_137		
NCBITaxon:138	biolink:OrganismalEntity	Borrelia		PMID:30154058|PMID:30586413|PMID:28141502|PMID:24744012|PMID:8863409|PMID:27930271|PMID:31836459|PMID:31722850|GC_ID:11|PMID:31454394|PMID:32320380|PMID:8863416	mondo.json	Relapsing Fever Borrelia	http://purl.obolibrary.org/obo/NCBITaxon_138		
MONDO:0006571	biolink:Disease	lichen nitidus	A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses.	DOID:8573|Wikipedia:Lichen_nitidus|SCTID:41890004|MESH:D017513|UMLS:C0162849|ICD10CM:L44.1|EFO:1000725|ICD9:697.1|SCTID:25147002	mondo.json	Pinkus' disease	http://purl.obolibrary.org/obo/MONDO_0006571	DOID:8573|http://identifiers.org/snomedct/41890004|UMLS:C0162849|http://purl.bioontology.org/ontology/ICD10CM/L44.1|http://identifiers.org/mesh/D017513	
MONDO:0018569	biolink:Disease	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.	UMLS:CN237580|Orphanet:435938	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018569	UMLS:CN237580|Orphanet:435938	ordo_malformation_syndrome
MONDO:0018568	biolink:Disease	obsolete COG2-CDG			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018568		
HP:0030810	biolink:PhenotypicFeature	Abnormal tongue physiology	Any functional anomaly of the tongue.	UMLS:C4280754	mondo.json		http://purl.obolibrary.org/obo/HP_0030810		
MONDO:0018565	biolink:Disease	congenital urachal anomaly	Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum.	Orphanet:435743	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018565	Orphanet:435743	ordo_group_of_disorders|disease_grouping
MONDO:0018564	biolink:Disease	3p25.3 microdeletion syndrome	A rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.	Orphanet:435638|UMLS:CN237571	mondo.json	monosomy 3p25.3|Del(3)p(25.3)|intellectual disability-epilepsy-stereotypic hand movement syndrome	http://purl.obolibrary.org/obo/MONDO_0018564	UMLS:CN237571|Orphanet:435638	ordo_malformation_syndrome
MONDO:0018567	biolink:Disease	autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation		Orphanet:435819|UMLS:CN237576	mondo.json	CMT2 due to TFG mutation	http://purl.obolibrary.org/obo/MONDO_0018567	UMLS:CN237576|Orphanet:435819	ordo_disease
MONDO:0018566	biolink:Disease	short stature-advanced bone age-early-onset osteoarthritis syndrome		Orphanet:435804|UMLS:CN237575	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018566	UMLS:CN237575|Orphanet:435804	ordo_disease
MONDO:0018561	biolink:Disease	precocious puberty in female	A precocious puberty that involves the female organism.	HP:0010465|UMLS:C0271616|Orphanet:435561	mondo.json	precocious puberty of female organism|female organism precocious puberty	http://purl.obolibrary.org/obo/MONDO_0018561	UMLS:C0271616|Orphanet:435561	disease_grouping|ordo_group_of_disorders
MONDO:0018560	biolink:Disease	anterior urethral valve		Orphanet:435372|UMLS:CN242188|SCTID:253907008	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018560	UMLS:CN242188|http://identifiers.org/snomedct/253907008|Orphanet:435372	obsoletion_candidate|ordo_morphological_anomaly
MONDO:0018563	biolink:Disease	adactyly of foot		Orphanet:435623|SCTID:66345008	mondo.json	congenital absence of toes	http://purl.obolibrary.org/obo/MONDO_0018563	http://identifiers.org/snomedct/66345008|Orphanet:435623	ordo_morphological_anomaly
MONDO:0018562	biolink:Disease	genetic otorhinolaryngological malformation		Orphanet:435603	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018562	Orphanet:435603	disease_grouping|ordo_group_of_disorders
NCBITaxon:151341	biolink:OrganismalEntity	Polyomaviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_151341		
UBERON:0015181	biolink:AnatomicalEntity	neck of tooth			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015181		
MONDO:0006589	biolink:Disease	occupational dermatitis	Contact dermatitis associated with allergens or irritants found in the workplace.	EFO:1000744|ICD9:692.9|NCIT:C34859|MESH:D009783|DOID:4404|SCTID:402587003|UMLS:C0028796	mondo.json	occupational allergic contact dermatitis|occupational eczema|occupational eczema (disorder) [ambiguous]|occupational dermatitis	http://purl.obolibrary.org/obo/MONDO_0006589	http://identifiers.org/snomedct/402587003|UMLS:C0028796|http://identifiers.org/mesh/D009783|NCIT:C34859|DOID:4404	
NCBITaxon:151340	biolink:OrganismalEntity	Papillomaviridae		GC_ID:1|PMID:20206957	mondo.json	Papillomavirus	http://purl.obolibrary.org/obo/NCBITaxon_151340		
MONDO:0006587	biolink:Disease	obsolete nodular nonsuppurative panniculitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006587		
MONDO:0006588	biolink:Disease	obsolete nonepidermolytic palmoplantar keratoderma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006588		
MONDO:0006585	biolink:Disease	neurodermatitis	Skin findings arising from repeated rubbing, picking or scratching of a real or imagined irritation of the skin.	UMLS:C0149922|NCIT:C111963|MESH:D009450|EFO:1000740|UMLS:C0027822|DOID:3309|SCTID:267854005	mondo.json	lichen simplex Chronicus	http://purl.obolibrary.org/obo/MONDO_0006585	UMLS:C0149922|NCIT:C111963|UMLS:C0027822|http://identifiers.org/mesh/D009450|http://identifiers.org/snomedct/267854005|DOID:3309	
MONDO:0006586	biolink:Disease	neurotic excoriation	A condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin.	ICD9:698.4|Wikipedia:Neurotic_excoriations|ICD9:300.19|EFO:1000741|DOID:9165|UMLS:C1274184|SCTID:402736003	mondo.json	factitious skin disease|dermatitis factitia|dermatitis artefacta|dermatitis factitia [artefacta]|dermatitis ficta	http://purl.obolibrary.org/obo/MONDO_0006586	http://identifiers.org/snomedct/402736003|DOID:9165|UMLS:C1274184	
MONDO:0006583	biolink:Disease	necrobiosis lipoidica	Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes, in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people. About 11% to 65% of patients with necrobiosis lipoidica also have diabetes, but the exact cause is still not known. Treatment is difficult. The disease is typically chronic with variable progression and scarring.	SCTID:9418005|UMLS:C0027538|MESH:D009335|DOID:3486|Wikipedia:Necrobiosis_lipoidica|EFO:1000738|Orphanet:542592|NCIT:C34840|GARD:0013040	mondo.json	necrobiosis lipoidica|necrobiosis lipoidica diabeticorum (formerly)	http://purl.obolibrary.org/obo/MONDO_0006583	UMLS:C0027538|http://identifiers.org/mesh/D009335|NCIT:C34840|DOID:3486|Orphanet:542592|http://identifiers.org/snomedct/9418005	gard_rare|ordo_disease
MONDO:0006584	biolink:Disease	obsolete neonatal jaundice	OBSOLETE. Jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma.	ICD9:774.5|UMLS:C0022353|SCTID:387712008|MESH:D007567|DOID:2383|EFO:1000739|ICD9:774.6	mondo.json	neonatal hyperbilirubinemia|neonatal icterus	http://purl.obolibrary.org/obo/MONDO_0006584	http://identifiers.org/snomedct/387712008|http://identifiers.org/mesh/D007567|DOID:2383|UMLS:C0022353	
MONDO:0006581	biolink:Disease	miliaria rubra	Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps).	UMLS:C0162423|DOID:11153|SCTID:44279002|ICD9:705.1|UMLS:C3241961|EFO:1000735	mondo.json	sudamina|miliaria crystallina|prickly heat - miliaria	http://purl.obolibrary.org/obo/MONDO_0006581	UMLS:C0162423|UMLS:C3241961|http://identifiers.org/snomedct/44279002|DOID:11153	
MONDO:0006582	biolink:Disease	mongolian spot	A benign, flat, congenital birthmark, with wavy borders and an irregular shape. The colour is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot.	UMLS:C0265985|NCIT:C3945|DOID:4702|MESH:D049328|SCTID:40467008|Wikipedia:Mongolian_spot|EFO:1000736	mondo.json	Mongolian macula|congenital dermal melanocytosis|blue sacral spot	http://purl.obolibrary.org/obo/MONDO_0006582	NCIT:C3945|http://identifiers.org/mesh/D049328|UMLS:C0265985|DOID:4702|http://identifiers.org/snomedct/40467008	
MONDO:0006580	biolink:Disease	miliaria	A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands.	SCTID:63951004|MESH:D008883|UMLS:C0026113|Wikipedia:Miliaria|EFO:1000734|DOID:1382|NCIT:C34820	mondo.json	prickly heat|heat rash	http://purl.obolibrary.org/obo/MONDO_0006580	http://identifiers.org/snomedct/63951004|UMLS:C0026113|NCIT:C34820|http://identifiers.org/mesh/D008883|DOID:1382	
HP:0030824	biolink:PhenotypicFeature	Mizuo phenomenon	Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14].	UMLS:C4280748	mondo.json	Mizuo-Nakamura phenomenon	http://purl.obolibrary.org/obo/HP_0030824		
MONDO:0018558	biolink:Disease	obsolete syndrome with woolly hair		Orphanet:434809	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018558	Orphanet:434809	ordo_group_of_disorders
GO:0031090	biolink:NamedThing	organelle membrane	A membrane that is one of the two lipid bilayers of an organelle envelope or the outermost membrane of single membrane bound organelle.		mondo.json	intracellular membrane	http://purl.obolibrary.org/obo/GO_0031090		
MONDO:0018557	biolink:Disease	obsolete rare genetic autonomic nervous system disorder	OBSOLETE. Rare genetic autonomic nervous system disease.	UMLS:CN237558|Orphanet:434786	mondo.json	rare genetic autonomic nervous system disease	http://purl.obolibrary.org/obo/MONDO_0018557	UMLS:CN237558|Orphanet:434786	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
GO:0031091	biolink:NamedThing	platelet alpha granule	A secretory organelle found in blood platelets, which is unique in that it exhibits further compartmentalization and acquires its protein content via two distinct mechanisms: (1) biosynthesis predominantly at the megakaryocyte (MK) level (with some vestigial platelet synthesis) (e.g. platelet factor 4) and (2) endocytosis and pinocytosis at both the MK and circulating platelet levels (e.g. fibrinogen (Fg) and IgG).		mondo.json	platelet alpha-granule	http://purl.obolibrary.org/obo/GO_0031091		
MONDO:0018559	biolink:Disease	fetal lower urinary tract obstruction		Orphanet:435365|UMLS:C4305545|SCTID:717752005	mondo.json	LUTO	http://purl.obolibrary.org/obo/MONDO_0018559	http://identifiers.org/snomedct/717752005|UMLS:C4305545|Orphanet:435365	ordo_group_of_disorders|disease_grouping
HP:0003272	biolink:PhenotypicFeature	Abnormal hip bone morphology	An abnormality of the hip bone.	UMLS:C4021735	mondo.json	Abnormality of the hip bone|Abnormality of the hips	http://purl.obolibrary.org/obo/HP_0003272		
MONDO:0018554	biolink:Disease	pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis	Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD and/or PCH) constitutes a rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction.	EFO:0009199|UMLS:CN237555|Orphanet:431353	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018554	Orphanet:431353|UMLS:CN237555	ordo_group_of_disorders|disease_grouping
MONDO:0018553	biolink:Disease	urachal diverticulum	Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications.	SCTID:253899000|NCIT:C123254|Orphanet:431347|UMLS:CN237554	mondo.json	Vesicourachal diverticulum	http://purl.obolibrary.org/obo/MONDO_0018553	Orphanet:431347|NCIT:C123254|http://identifiers.org/snomedct/253899000|UMLS:CN237554	ordo_morphological_anomaly
HP:0003271	biolink:PhenotypicFeature	Visceromegaly	Abnormal increased size of the viscera of the abdomen.	SNOMEDCT_US:28543008|UMLS:C0042782	mondo.json		http://purl.obolibrary.org/obo/HP_0003271		
MONDO:0018556	biolink:Disease	Lambert-Eaton myasthenic syndrome	Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC).	GARD:0006851|MESH:D015624|NCIT:C3155|Orphanet:43393|SCTID:56989000|DOID:0050214|MedDRA:10067685|ICD9:358.3|UMLS:C0022972	mondo.json	myasthenic-myopathic syndrome of Lambert-Eaton|myasthenic syndrome of Lambert-Eaton|Lambert Eaton myasthenic syndrome|Eaton-Lambert syndrome|Lambert-Eaton syndrome|Lambert Eaton syndrome|Eaton Lambert syndrome|LEMS	http://purl.obolibrary.org/obo/MONDO_0018556	UMLS:C0022972|NCIT:C3155|http://identifiers.org/snomedct/56989000|http://identifiers.org/mesh/D015624|DOID:0050214|Orphanet:43393	gard_rare|ordo_disease
MONDO:0018555	biolink:Disease	hypogonadotropic hypogonadism	Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.	DOID:0090070|HP:0000044|Orphanet:432|NCIT:C113347|ICD10CM:E23.0|ICD9:253.4|UMLS:CN235466|OMIMPS:147950|DOID:7455|SCTID:33927004	mondo.json	hypogonadotropism|normosmic congenital hypogonadotropic hypogonadism|Normosmic idiopathic hypogonadotropic hypogonadism|isolated congenital gonadotropin deficiency|congenital idiopathic hypogonadotropic hypogonadism|hypogonadotropic hypogonadism|hypogonadotropic hypogonadism with or without anosmia|isolated hypogonadotropic hypogonadism|low gonadotropins (secondary hypogonadism)|nIHH|hypogonadism, hypogonadotropic|secondary hypogonadism|gonadotropic deficiency|central hypogonadism	http://purl.obolibrary.org/obo/MONDO_0018555	Orphanet:432|https://omim.org/phenotypicSeries/PS147950|DOID:0090070|http://identifiers.org/snomedct/33927004|UMLS:CN235466|NCIT:C113347	ordo_disease
MONDO:0018550	biolink:Disease	spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder		Orphanet:431320|UMLS:CN237550	mondo.json	SPOAN and SPOAN-related disorder	http://purl.obolibrary.org/obo/MONDO_0018550	Orphanet:431320|UMLS:CN237550	ordo_group_of_disorders|disease_grouping
GO:0031099	biolink:NamedThing	regeneration	The regrowth of a lost or destroyed body part, such as an organ or tissue. This process may occur via renewal, repair, and/or growth alone (i.e. increase in size or mass).		mondo.json		http://purl.obolibrary.org/obo/GO_0031099		
HP:0030828	biolink:PhenotypicFeature	Wheezing	A high-pitched whistling sound associated with labored breathing.	MSH:D012135|UMLS:C0043144|SNOMEDCT_US:56018004	mondo.json	Wheezing	http://purl.obolibrary.org/obo/HP_0030828		
MONDO:0018552	biolink:Disease	urachal sinus	Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected.	Orphanet:431344|UMLS:CN237553|SCTID:451030007	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018552	Orphanet:431344|UMLS:CN237553|http://identifiers.org/snomedct/451030007	ordo_morphological_anomaly
HP:0030829	biolink:PhenotypicFeature	Abnormal breath sound	An anomalous (adventitious) sound produced by the breathing process.	SNOMEDCT_US:301273002|UMLS:C0231856	mondo.json	Abnormal lung auscultation finding	http://purl.obolibrary.org/obo/HP_0030829		
MONDO:0018551	biolink:Disease	patent urachus	Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus.	NCIT:C99005|SCTID:398316009|HP:0010479|UMLS:CN237552|Orphanet:431341	mondo.json	patent urachus|patent urachus (disease)	http://purl.obolibrary.org/obo/MONDO_0018551	Orphanet:431341|NCIT:C99005|UMLS:CN237552|http://identifiers.org/snomedct/398316009	ordo_morphological_anomaly
MONDO:0006558	biolink:Disease	pemphigoid gestationis	A rare pregnancy-associated autoimmune skin disease that is characterised by an itchy rash that develops into blisters. It is most common during the second and third trimesters of pregnancy. It was previously known as herpes gestationis although it has no association with the herpes virus whatsoever.	NCIT:C85003|UMLS:C0019343|Orphanet:63275|Wikipedia:Gestational_pemphigoid|DOID:0040098|GARD:0006497|DOID:14482|MedDRA:10019939|SCTID:86081009|EFO:1000709|MESH:D006559|ICD9:646.80	mondo.json	Herpes gestationis|gestational pemphigoid|gestational herpes|Herpes gestationis (disorder)|Herpes gestationis NOS (disorder)|pemphigus gestationis|pemphigoid gestationis|Herpes gestationis unspecified (disorder)	http://purl.obolibrary.org/obo/MONDO_0006558	UMLS:C0019343|NCIT:C85003|http://identifiers.org/mesh/D006559|Orphanet:63275|DOID:0040098|http://identifiers.org/snomedct/86081009|DOID:14482	ordo_disease|gard_rare
MONDO:0006559	biolink:Disease	hidradenitis suppurativa	A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident.	Wikipedia:Hidradenitis_suppurativa|UMLS:C0162836|ICD10CM:L73.2|SCTID:59393003|MESH:D017497|Orphanet:387|EFO:1000710|DOID:2280|GARD:0006658	mondo.json	verneuil disease|ectopic acne|fox den disease|pyoderma fistulans significa|hidradenitis suppurativa|acne inversa, familial|acne inversa	http://purl.obolibrary.org/obo/MONDO_0006559	DOID:2280|http://identifiers.org/mesh/D017497|http://identifiers.org/snomedct/59393003|http://purl.bioontology.org/ontology/ICD10CM/L73.2|Orphanet:387|UMLS:C0162836	
MONDO:0006556	biolink:Disease	hand dermatosis	Skin conditions characterised by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual.	EFO:1000706|MESH:D006229|UMLS:C0018567|DOID:3158	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006556	http://identifiers.org/mesh/D006229|UMLS:C0018567|DOID:3158	
MONDO:0006557	biolink:Disease	hemangioma of subcutaneous tissue	A hemangioma arising from the subcutaneous soft tissues.	EFO:1000707|SCTID:93473009|UMLS:C0685200|DOID:13081|NCIT:C8540	mondo.json	subcutaneous hemangioma|subcutaneous angioma|subcutaneous haemangioma|subcutaneous tissue hemangioma|superficial fascia hemangioma|hemangioma of the subcutaneous tissue|subcutaneous tissue angioma|hemangioma of superficial fascia|angioma of subcutaneous tissue|hemangioma of subcutaneous tissue|angioma of the subcutaneous tissue	http://purl.obolibrary.org/obo/MONDO_0006557	http://identifiers.org/snomedct/93473009|NCIT:C8540|DOID:13081|UMLS:C0685200	
UBERON:0015172	biolink:AnatomicalEntity	endometrial blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015172		
MONDO:0006554	biolink:Disease	granuloma annulare	Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown.	Wikipedia:Granuloma_annulare|EFO:1000704|SCTID:65508009|NCIT:C3470|ICD9:709.8|DOID:3777|ICD10CM:L92.0|MESH:D016460|UMLS:C0085074|GARD:0006546	mondo.json	granuloma annulare|Granulome annulare	http://purl.obolibrary.org/obo/MONDO_0006554	http://identifiers.org/mesh/D016460|NCIT:C3470|UMLS:C0085074|http://purl.bioontology.org/ontology/ICD10CM/L92.0|http://identifiers.org/snomedct/65508009|DOID:3777	gard_rare
NCBITaxon:157	biolink:OrganismalEntity	Treponema		PMID:9734025|PMID:9019153|GC_ID:11|PMID:23961314	mondo.json	Microspironema|"Spironema" Vuillemin 1905	http://purl.obolibrary.org/obo/NCBITaxon_157		
MONDO:0006555	biolink:Disease	granulomatous dermatitis	An inflammatory reaction of the skin to various organic and inorganic antigens. It is characterized by tumor-like masses or nodules of granulomatous tissue comprised of activated histiocytes, epitheliod cells, and multinucleated giant cells.	DOID:4397|EFO:1000705|NCIT:C3505|UMLS:C0743086	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006555	UMLS:C0743086|NCIT:C3505|DOID:4397	
MONDO:0006552	biolink:Disease	folliculitis	Inflammation of the hair follicles. Causes include excessive perspiration, skin infections, and skin wounds.	EFO:1000702|Wikipedia:Folliculitis|DOID:4409|SCTID:13600006|ICD9:704.8|NCIT:C94408|MESH:D005499	mondo.json	hair follicle dermatitis|dermatitis of hair follicle	http://purl.obolibrary.org/obo/MONDO_0006552	http://identifiers.org/mesh/D005499|http://identifiers.org/snomedct/13600006|NCIT:C94408|DOID:4409	
MONDO:0006553	biolink:Disease	Fox-Fordyce disease	Fox-Fordyce disease isa chronic skin diseasemost common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown,but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants.	EFO:1000703|DOID:1381|SCTID:65038009|GARD:0006462|UMLS:C0016632|ICD9:705.82|ICD10CM:L75.2|NCIT:C84716|MESH:D005588|Wikipedia:Fox-Fordyce_disease	mondo.json	miliaria, apocrine|apocrine miliaria|Fox-Fordyce disease|Fox-Fordyce syndrome|Fox Fordyce disease	http://purl.obolibrary.org/obo/MONDO_0006553	DOID:1381|http://identifiers.org/mesh/D005588|NCIT:C84716|UMLS:C0016632|http://identifiers.org/snomedct/65038009|http://purl.bioontology.org/ontology/ICD10CM/L75.2	gard_rare
MONDO:0006550	biolink:Disease	fibroepithelial polyp of urethra	A benign polypoid lesion of mesodermal origin that arises from the urethra.	UMLS:C1336884|EFO:1000700|NCIT:C6170|DOID:8108	mondo.json	fibroepithelial polyp of urethra|skin tag of urethra|urethra skin tag|urethral fibroepithelial polyp|fibroepithelial polyp of the urethra|urethra fibroepithelial polyp	http://purl.obolibrary.org/obo/MONDO_0006550	DOID:8108|UMLS:C1336884|NCIT:C6170	
CHEBI:34905	biolink:ChemicalSubstance	paraquat	An organic cation that consists of 4,4'-bipyridine bearing two N-methyl substituents loctated at the 1- and 1'-positions.		mondo.json	1,1'-Dimethyl-4,4'-bipyridinium|methyl viologen ion(2+)|1,1'-dimethyl-[4,4'-bipyridin]-1,1'-diium|paraquat dication|paraquat ion|1,1'-dimethyl-4,4'-bipyridyldiylium|N,N'-dimethyl-4,4'-bipyridinium|dimethyl viologen|Paraquat|N,N'-dimethyl-4,4'-bipyridinium dication	http://purl.obolibrary.org/obo/CHEBI_34905		
UBERON:0015179	biolink:AnatomicalEntity	somite boundary epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015179		
MONDO:0006551	biolink:Disease	alopecia mucinosa	A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma.	ICD10CM:L65.2|EFO:1000701|MESH:D000507|PMID:24350019|UMLS:C0002173|DOID:9905|ICD9:704.09|NCIT:C82859|SCTID:27382006	mondo.json	alopecia mucinosis|hair follicle cutaneous focal mucinosis|cutaneous focal mucinosis of hair follicle|alopecia mucinosa|alopecia Mucinosa|follicular mucinosis	http://purl.obolibrary.org/obo/MONDO_0006551	http://identifiers.org/snomedct/27382006|DOID:9905|UMLS:C0002173|NCIT:C82859|http://identifiers.org/mesh/D000507|http://purl.bioontology.org/ontology/ICD10CM/L65.2	
UBERON:0015178	biolink:AnatomicalEntity	somite border			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015178		
NCBITaxon:43351	biolink:OrganismalEntity	Dientamoeba		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_43351		
MONDO:0018547	biolink:Disease	acute tricyclic antidepressant poisoning	Acute tricyclic antidepressant (TCA) poisoning is a potentially lethal intoxication that is characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension, and sudden death.	UMLS:CN227537|Orphanet:43117	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018547	UMLS:CN227537|Orphanet:43117	ordo_clinical_situation
MONDO:0018546	biolink:Disease	serotonin syndrome	Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs).	ICD9:333.99|SCTID:371089000|MedDRA:10040108|EFO:1001842|MESH:D020230|Orphanet:43116	mondo.json	serotonin toxicity|serotonin toxidrome|serotonin storm|serotonergic syndrome	http://purl.obolibrary.org/obo/MONDO_0018546	http://identifiers.org/mesh/D020230|http://identifiers.org/snomedct/371089000|Orphanet:43116	ordo_disease
MONDO:0018549	biolink:Disease	obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies		Orphanet:431263|UMLS:CN237548	mondo.json	late-onset scapuloperoneal syndrome, myopathic type|late-onset SPMD with hyaline bodies	http://purl.obolibrary.org/obo/MONDO_0018549	Orphanet:431263|UMLS:CN237548	ordo_group_of_disorders
HP:0003249	biolink:PhenotypicFeature	Genital ulcers		UMLS:C0151281	mondo.json	Genital ulcers	http://purl.obolibrary.org/obo/HP_0003249		
MONDO:0018548	biolink:Disease	acute poisoning by drugs with membrane-stabilizing effect	Acute poisoning with a membrane-stabilizing effect is potentially life-threatening. The principle drugs involved are tricyclic antidepressants, chloroquine, some types of beta blockers, class IA antiarrhythmics, carbamazepin and cocaine.	UMLS:CN227538|Orphanet:43119	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018548	UMLS:CN227538|Orphanet:43119	ordo_clinical_situation
MONDO:0018543	biolink:Disease	autosomal dominant hypocalcemia	Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.	UMLS:CN205077|DOID:0090109|OMIMPS:601198|GARD:0002877|Orphanet:428|SCTID:711152006	mondo.json	hypocalcemia, autosomal dominant|hypocalcemia|AD hypocalcemia	http://purl.obolibrary.org/obo/MONDO_0018543	https://omim.org/phenotypicSeries/PS601198|http://identifiers.org/snomedct/711152006|Orphanet:428|DOID:0090109|UMLS:CN205077	ordo_clinical_subtype|gard_rare
MONDO:0018542	biolink:Disease	severe congenital neutropenia		ICD9:288.01|DOID:0050590|SCTID:89655007|Orphanet:42738|OMIMPS:202700|MedDRA:10052210	mondo.json	neutropenia, severe congenital|SCN	http://purl.obolibrary.org/obo/MONDO_0018542	https://omim.org/phenotypicSeries/PS202700|DOID:0050590|http://identifiers.org/snomedct/89655007|Orphanet:42738	disease_grouping|ordo_group_of_disorders
MONDO:0018545	biolink:Disease	obsolete primary immunodeficiency with predisposition to severe viral infection		Orphanet:431156	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018545	Orphanet:431156	ordo_group_of_disorders|disease_grouping
MONDO:0018544	biolink:Disease	adrenoleukodystrophy	A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.	ICD9:341.1|SCTID:49692006|MESH:D000326|NCIT:C61252|UMLS:C0007795|GARD:0005758|OMIM:300100|MedDRA:10051260|DOID:10588|OMIM:302700|Orphanet:43	mondo.json	adrenomyeloneuropathy, adult, X-linked recessive|Siemerling-Creutzfeldt disease|adrenoleukodystrophy, X-linked recessive|X-linked ALD|X-linked adrenoleukodystrophy|adrenoleukodystrophy|Bronze-Schilder disease|adrenomyeloneuropathy, adult|X-ALD|diffuse cerebral sclerosis of Schilder|diffuse sclerosis|encephalitis periaxialis, Schilder's|sudanophilic cerebral sclerosis|ALD|adrenoleukodystrophy, X-linked|ABCD1 deficiency|encephalitis periaxialis concentrica	http://purl.obolibrary.org/obo/MONDO_0018544	Orphanet:43|DOID:10588|http://identifiers.org/mesh/D000326|NCIT:C61252|https://omim.org/entry/300100	ordo_disease
MONDO:0018541	biolink:Disease	familial hypoaldosteronism	Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone).	SCTID:715343000|UMLS:CN205074|Orphanet:427|UMLS:C4275180	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018541	UMLS:C4275180|Orphanet:427|UMLS:CN205074|http://identifiers.org/snomedct/715343000	ordo_disease
HP:0003241	biolink:PhenotypicFeature	External genital hypoplasia	Underdevelopment of part or all of the external reproductive organs.	UMLS:C1855333	mondo.json	Hypogenitalism|Underdevelopment of external reproductive organs|Small genitalia	http://purl.obolibrary.org/obo/HP_0003241		
MONDO:0018540	biolink:Disease	PFAPA syndrome	An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.	UMLS:CN205072|SCTID:717231003|GARD:0005657|Orphanet:42642|NCIT:C116917|UMLS:C4082167	mondo.json	periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome|periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome|periodic fever, aphthous stomatitis, pharyngitis and adenitis|Marshall syndrome|Marshall syndrome with periodic fever|PFAPA	http://purl.obolibrary.org/obo/MONDO_0018540	http://identifiers.org/snomedct/717231003|NCIT:C116917|UMLS:CN205072|Orphanet:42642|UMLS:C4082167	ordo_disease
UBERON:0015165	biolink:AnatomicalEntity	multi-unit eye			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015165		
MONDO:0006569	biolink:Disease	leg dermatosis	A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed)	UMLS:C0023219|DOID:3142|EFO:1000723|MESH:D007868	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006569	http://identifiers.org/mesh/D007868|DOID:3142|UMLS:C0023219	
MONDO:0006567	biolink:Disease	kernicterus due to isoimmunization	Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus.	UMLS:C0270204|NCIT:C101270|EFO:1000721|ICD10CM:P57.0|DOID:12043|SCTID:359007|ICD9:773.4	mondo.json	kernicterus related to isoimmunization|kernicterus due to isoimmunization of fetus or newborn|kernicterus - due to isoimm.	http://purl.obolibrary.org/obo/MONDO_0006567	http://purl.bioontology.org/ontology/ICD10CM/P57.0|UMLS:C0270204|http://identifiers.org/snomedct/359007|NCIT:C101270|DOID:12043	
MONDO:0006568	biolink:Disease	obsolete Kimura disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006568		
NCBITaxon:168	biolink:OrganismalEntity	Treponema pallidum subsp. pertenue		GC_ID:11	mondo.json	Treponema pertenue|Treponema pallidum pertenue|yaws treponeme	http://purl.obolibrary.org/obo/NCBITaxon_168		
MONDO:0006565	biolink:Disease	juvenile dermatitis herpetiformis	Dermatitis herpetiformis in children	DOID:8507|UMLS:C0152092|EFO:1000719|SCTID:5906000|ICD9:694.2	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006565	DOID:8507|UMLS:C0152092|http://identifiers.org/snomedct/5906000	
MONDO:0006566	biolink:Disease	keratosis	A skin disorder consisting of hypertrophy of the stratum corneum of the skin.	UMLS:C0022593|NCIT:C34745|SCTID:254666005|MESH:D007642|EFO:1000720|DOID:161	mondo.json	keratoderma	http://purl.obolibrary.org/obo/MONDO_0006566	UMLS:C0022593|http://identifiers.org/snomedct/254666005|DOID:161|NCIT:C34745|http://identifiers.org/mesh/D007642	
MONDO:0006563	biolink:Disease	inverted follicular keratosis	Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies.	NCIT:C9007|ICD9:264.8|DOID:6945|UMLS:C0334019|EFO:1000717|Wikipedia:Inverted_follicular_keratosis|SCTID:394728005	mondo.json	inverted folicular keratosis|inverted follicular keratosis	http://purl.obolibrary.org/obo/MONDO_0006563	http://identifiers.org/snomedct/394728005|UMLS:C0334019|NCIT:C9007|DOID:6945	
MONDO:0006564	biolink:Disease	irritant dermatitis	An inflammatory skin condition caused by direct contact between the skin and an irritating substance. It is typically manifested by erythema, mild edema, and scaling at the affected site.	ICD9:692.9|UMLS:C0162823|DOID:2772|MESH:D017453|SCTID:110979008|NCIT:C27151|EFO:1000718	mondo.json	primary irritant dermatitis|irritant contact dermatitis	http://purl.obolibrary.org/obo/MONDO_0006564	http://identifiers.org/mesh/D017453|http://identifiers.org/snomedct/110979008|UMLS:C0162823|NCIT:C27151|DOID:2772	
MONDO:0006561	biolink:Disease	eyelid hypopigmentation	Under-production of pigment in the eyelid.	EFO:1000713|UMLS:C0155212|SCTID:68210006|ICD9:374.53|DOID:11668	mondo.json	hypopigmentation of eyelid	http://purl.obolibrary.org/obo/MONDO_0006561	DOID:11668|UMLS:C0155212|http://identifiers.org/snomedct/68210006	
MONDO:0006562	biolink:Disease	obsolete incontinentia pigmenti achromians		UMLS:C0021171|SCTID:218358001|UMLS:C0022283|NCIT:C7582|EFO:1000716|MESH:D010859	mondo.json	incontinentia pigmenti syndrome|incontinentia pigmenti achromians syndrome	http://purl.obolibrary.org/obo/MONDO_0006562	http://identifiers.org/snomedct/218358001	
MONDO:0006560	biolink:Disease	obsolete hypohidrosis	OBSOLETE. Reduced sweating. Causes include burns, dehydration, radiation, and leprosy.	UMLS:C0020620|SCTID:45004005|DOID:11155|MESH:D007007|ICD10CM:L74.4|HP:0000966|EFO:1000712|Wikipedia:Hypodidrosis	mondo.json	Oligohidrosis	http://purl.obolibrary.org/obo/MONDO_0006560	UMLS:C0020620|http://identifiers.org/snomedct/45004005|http://identifiers.org/mesh/D007007|DOID:11155	
NCBITaxon:160	biolink:OrganismalEntity	Treponema pallidum		GC_ID:11	mondo.json	Spirillum pallidum|Spirochaeta pallida|Microspironema pallidum|Spironema pallidum	http://purl.obolibrary.org/obo/NCBITaxon_160		
MONDO:0018539	biolink:Disease	obsolete rare epithelial tumor of small intestine		UMLS:CN237541|Orphanet:425368	mondo.json	rare epithelial tumor of small bowel	http://purl.obolibrary.org/obo/MONDO_0018539	UMLS:CN237541|Orphanet:425368	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
NCBITaxon:163343	biolink:OrganismalEntity	Trichostomatia		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_163343		
HP:0003256	biolink:PhenotypicFeature	Abnormality of the coagulation cascade	An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.	UMLS:C0005779|SNOMEDCT_US:362970003|MSH:D001778|SNOMEDCT_US:64779008	mondo.json	Coagulopathy	http://purl.obolibrary.org/obo/HP_0003256		
MONDO:0018536	biolink:Disease	adenocarcinoma of gallbladder and extrahepatic biliary tract	Adenocarcinoma of the gallbladder and extrahepatic biliary tract is a rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor.	Orphanet:424991|SCTID:765741003|UMLS:CN237537	mondo.json	adenocarcinoma of the gallbladder and EBT|adenocarcinoma of gallbladder and EBT|adenocarcinoma of the gallbladder and extrahepatic biliary tract	http://purl.obolibrary.org/obo/MONDO_0018536	http://identifiers.org/snomedct/765741003|UMLS:CN237537|Orphanet:424991	ordo_disease
MONDO:0018535	biolink:Disease	biliary cystadenocarcinoma	A cystadenocarcinoma that involves the biliary tree.	Orphanet:424982|UMLS:C2064409	mondo.json	intrahepatic bile duct cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0018535	UMLS:C2064409|Orphanet:424982	ordo_disease
MONDO:0018538	biolink:Disease	inherited digestive cancer-predisposing syndrome		Orphanet:425003|UMLS:CN237539	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018538	UMLS:CN237539|Orphanet:425003	ordo_group_of_disorders|disease_grouping
MONDO:0018537	biolink:Disease	squamous cell carcinoma of gallbladder and extrahepatic biliary tract	Squamous cell carcinoma of the gallbladder and extrahepatic biliary tract is a rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement.	SCTID:766978002|Orphanet:424996|UMLS:CN237538	mondo.json	squamous cell carcinoma of gallblader and EBT	http://purl.obolibrary.org/obo/MONDO_0018537	http://identifiers.org/snomedct/766978002|Orphanet:424996|UMLS:CN237538	ordo_disease
MONDO:0018532	biolink:Disease	adenocarcinoma of liver and intrahepatic biliary tract		UMLS:CN242181|Orphanet:424943	mondo.json	adenocarcinoma of the liver and IBT|adenocarcinoma of liver and IBT|adenocarcinoma of the liver and intrahepatic biliary tract	http://purl.obolibrary.org/obo/MONDO_0018532	UMLS:CN242181|Orphanet:424943	ordo_disease
MONDO:0018531	biolink:Disease	carcinoma of liver and intrahepatic biliary tract	A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma.	NCIT:C7927|ONCOTREE:HCCIHCH|Orphanet:424936|UMLS:C0279000	mondo.json	cancer of the liver and intrahepatic biliary tract|hepatocellular carcinoma plus intrahepatic cholangiocarcinoma|primary liver carcinoma|carcinoma of liver and IBT|liver and intrahepatic bile duct carcinoma|hepatic cancer|liver and intrahepatic biliary tract cancer|liver/hepatobiliary cancer|cancer of the liver|liver carcinoma|cancer of liver|liver cancer|liver and intrahepatic bile duct cancer|carcinoma of liver|liver and intrahepatic biliary tract carcinoma|cancer of liver and intrahepatic biliary tract	http://purl.obolibrary.org/obo/MONDO_0018531	NCIT:C7927|UMLS:C0279000|Orphanet:424936	disease_grouping|ordo_group_of_disorders
MONDO:0018534	biolink:Disease	squamous cell carcinoma of liver and intrahepatic biliary tract	Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia.	UMLS:CN242131|Orphanet:424975	mondo.json	squamous cell carcinoma of liver and IBT	http://purl.obolibrary.org/obo/MONDO_0018534	UMLS:CN242131|Orphanet:424975	ordo_disease
MONDO:0018533	biolink:Disease	undifferentiated carcinoma of liver and intrahepatic biliary tract	Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, hight metastatic potential and a rapid clinical course are typically associated.	Orphanet:424970|UMLS:CN242153	mondo.json	undifferentiated carcinoma of liver and IBT	http://purl.obolibrary.org/obo/MONDO_0018533	UMLS:CN242153|Orphanet:424970	ordo_disease
MONDO:0018530	biolink:Disease	obsolete rare epithelial tumor of liver and intrahepatic biliary tract		UMLS:CN237535|Orphanet:424933	mondo.json	rare epithelial tumor of liver and IBT	http://purl.obolibrary.org/obo/MONDO_0018530	Orphanet:424933|UMLS:CN237535	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
UBERON:0005749	biolink:AnatomicalEntity	glomerular tuft			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005749		
NCBITaxon:9789	biolink:OrganismalEntity	Equus		GC_ID:1	mondo.json	Equus subg. Hippotigris|Hemionus|Equus subg. Equus|Asinus|Dolichohippus|Equus subgen. Sussemionus|Equus subg. Dolichohippus|Sussemionus|Equus subg. Amerhippus|Equus subg. Hemionus|Hippotigris|Amerhippus|Equus subg. Asinus	http://purl.obolibrary.org/obo/NCBITaxon_9789		
NCBITaxon:9793	biolink:OrganismalEntity	Equus asinus		GC_ID:1	mondo.json	African wild ass|African ass|ass|domestic ass|Somali wild ass|donkey	http://purl.obolibrary.org/obo/NCBITaxon_9793		
NCBITaxon:9796	biolink:OrganismalEntity	Equus caballus		GC_ID:1	mondo.json	equine|Equus przewalskii forma caballus|horse|Equus przewalskii f. caballus|domestic horse	http://purl.obolibrary.org/obo/NCBITaxon_9796		
HGNC:1500	biolink:NamedThing	CASP10			mondo.json		http://identifiers.org/hgnc/1500		
GO:0021700	biolink:NamedThing	developmental maturation	A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure, cell or cellular component to attain its fully functional state.		mondo.json		http://purl.obolibrary.org/obo/GO_0021700		
UBERON:0005754	biolink:AnatomicalEntity	rostral part of nephrogenic cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005754		
UBERON:0005753	biolink:AnatomicalEntity	caudal part of nephrogenic cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005753		
HGNC:1509	biolink:NamedThing	CASP8			mondo.json		http://identifiers.org/hgnc/1509		
GO:0043062	biolink:NamedThing	extracellular structure organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures in the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane, and also covers the host cell environment outside an intracellular parasite.		mondo.json	extracellular structure organization and biogenesis|extracellular structure organisation	http://purl.obolibrary.org/obo/GO_0043062		
HGNC:1502	biolink:NamedThing	CASP14			mondo.json		http://identifiers.org/hgnc/1502		
GO:0043069	biolink:NamedThing	negative regulation of programmed cell death	Any process that stops, prevents, or reduces the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes.		mondo.json	down-regulation of programmed cell death|down regulation of programmed cell death|inhibition of programmed cell death|negative regulation of non-apoptotic programmed cell death|downregulation of programmed cell death	http://purl.obolibrary.org/obo/GO_0043069		
GO:0043068	biolink:NamedThing	positive regulation of programmed cell death	Any process that activates or increases the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes.		mondo.json	activation of programmed cell death|stimulation of programmed cell death|upregulation of programmed cell death|positive regulation of non-apoptotic programmed cell death|up-regulation of programmed cell death|up regulation of programmed cell death	http://purl.obolibrary.org/obo/GO_0043068		
GO:0043065	biolink:NamedThing	positive regulation of apoptotic process	Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.		mondo.json	upregulation of apoptosis|pro-apoptosis|up-regulation of apoptosis|positive regulation of apoptosis|up regulation of apoptosis|activation of apoptosis|stimulation of apoptosis	http://purl.obolibrary.org/obo/GO_0043065		
GO:0043067	biolink:NamedThing	regulation of programmed cell death	Any process that modulates the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes.		mondo.json	regulation of non-apoptotic programmed cell death	http://purl.obolibrary.org/obo/GO_0043067		
GO:0043066	biolink:NamedThing	negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.		mondo.json	down-regulation of apoptosis|down regulation of apoptosis|apoptosis inhibitor activity|downregulation of apoptosis|inhibition of apoptosis|negative regulation of apoptosis|pro-survival|anti-apoptosis	http://purl.obolibrary.org/obo/GO_0043066		
NCBITaxon:7148	biolink:OrganismalEntity	Nematocera		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_7148		
NCBITaxon:7147	biolink:OrganismalEntity	Diptera		GC_ID:1	mondo.json	flies|flies	http://purl.obolibrary.org/obo/NCBITaxon_7147		
HGNC:1512	biolink:NamedThing	CASQ1			mondo.json		http://identifiers.org/hgnc/1512		
UBERON:0005745	biolink:AnatomicalEntity	optic foramen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005745		
UBERON:0005744	biolink:AnatomicalEntity	bone foramen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005744		
UBERON:0005742	biolink:AnatomicalEntity	adventitia			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005742		
UBERON:0005740	biolink:AnatomicalEntity	tunica intima of artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005740		
HGNC:1515	biolink:NamedThing	CAST			mondo.json		http://identifiers.org/hgnc/1515		
UBERON:0005729	biolink:AnatomicalEntity	pectoral appendage field			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005729		
UBERON:0005728	biolink:AnatomicalEntity	extraembryonic mesoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005728		
HGNC:1516	biolink:NamedThing	CAT			mondo.json		http://identifiers.org/hgnc/1516		
HGNC:1513	biolink:NamedThing	CASQ2			mondo.json		http://identifiers.org/hgnc/1513		
NCBITaxon:1485168	biolink:OrganismalEntity	Longamoebia		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1485168		
HGNC:1514	biolink:NamedThing	CASR			mondo.json		http://identifiers.org/hgnc/1514		
UBERON:0005726	biolink:AnatomicalEntity	chemosensory system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005726		
UBERON:0005734	biolink:AnatomicalEntity	tunica adventitia of blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005734		
UBERON:0005733	biolink:AnatomicalEntity	limb field			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005733		
UBERON:0005732	biolink:AnatomicalEntity	paired limb/fin field			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005732		
UBERON:0005730	biolink:AnatomicalEntity	pelvic appendage field			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005730		
GO:0043085	biolink:NamedThing	positive regulation of catalytic activity	Any process that activates or increases the activity of an enzyme.		mondo.json	up-regulation of metalloenzyme activity|stimulation of metalloenzyme activity|up-regulation of enzyme activity|activation of metalloenzyme activity|upregulation of metalloenzyme activity|up regulation of enzyme activity|activation of enzyme activity|positive regulation of enzyme activity|positive regulation of metalloenzyme activity|stimulation of enzyme activity|up regulation of metalloenzyme activity|upregulation of enzyme activity	http://purl.obolibrary.org/obo/GO_0043085		
UBERON:0005719	biolink:AnatomicalEntity	footplate apical ectodermal ridge			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005719		
HGNC:1529	biolink:NamedThing	CAV3			mondo.json		http://identifiers.org/hgnc/1529		
GO:0043084	biolink:NamedThing	penile erection	The hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow.		mondo.json		http://purl.obolibrary.org/obo/GO_0043084		
HGNC:1527	biolink:NamedThing	CAV1			mondo.json		http://identifiers.org/hgnc/1527		
GO:0043086	biolink:NamedThing	negative regulation of catalytic activity	Any process that stops or reduces the activity of an enzyme.		mondo.json	negative regulation of enzyme activity|down-regulation of enzyme activity|downregulation of metalloenzyme activity|down regulation of enzyme activity|down regulation of metalloenzyme activity|inhibition of enzyme activity|downregulation of enzyme activity|negative regulation of metalloenzyme activity|inhibition of metalloenzyme activity|down-regulation of metalloenzyme activity	http://purl.obolibrary.org/obo/GO_0043086		
NCBITaxon:9787	biolink:OrganismalEntity	Perissodactyla		GC_ID:1	mondo.json	odd-toed ungulates|odd-toed ungulates	http://purl.obolibrary.org/obo/NCBITaxon_9787		
NCBITaxon:9788	biolink:OrganismalEntity	Equidae		GC_ID:1	mondo.json	horses	http://purl.obolibrary.org/obo/NCBITaxon_9788		
UBERON:0005725	biolink:AnatomicalEntity	olfactory system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005725		
HP:0030809	biolink:PhenotypicFeature	Abnormal tongue morphology	Any structural anomaly of the tongue.	UMLS:C4280755	mondo.json		http://purl.obolibrary.org/obo/HP_0030809		
UBERON:0005724	biolink:AnatomicalEntity	roof plate spinal cord region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005724		
GO:0055065	biolink:NamedThing	metal ion homeostasis	Any process involved in the maintenance of an internal steady state of metal ions within an organism or cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0055065		
UBERON:0005721	biolink:AnatomicalEntity	pronephric mesoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005721		
UBERON:0005720	biolink:AnatomicalEntity	hindbrain venous system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005720		
HGNC:1530	biolink:NamedThing	MICU1			mondo.json		http://identifiers.org/hgnc/1530		
GO:0055067	biolink:NamedThing	monovalent inorganic cation homeostasis	Any process involved in the maintenance of an internal steady state of monovalent inorganic cations within an organism or cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0055067		
GO:0055072	biolink:NamedThing	iron ion homeostasis	Any process involved in the maintenance of an internal steady state of iron ions within an organism or cell.		mondo.json	iron homeostasis	http://purl.obolibrary.org/obo/GO_0055072		
GO:0055074	biolink:NamedThing	calcium ion homeostasis	Any process involved in the maintenance of an internal steady state of calcium ions within an organism or cell.		mondo.json	regulation of calcium ion concentration	http://purl.obolibrary.org/obo/GO_0055074		
UBERON:0005792	biolink:AnatomicalEntity	nephric ridge			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005792		
FOODON:00002403	biolink:NamedThing	food material	Any substance that can be consumed by an organism to satisfy nutritional or other health needs, or to provide a social or organoleptic food experience		mondo.json	foodstuff|sustenance|food|nourishment	http://purl.obolibrary.org/obo/FOODON_00002403		
GO:0055070	biolink:NamedThing	copper ion homeostasis	Any process involved in the maintenance of an internal steady state of copper ions within an organism or cell.		mondo.json	copper homeostasis	http://purl.obolibrary.org/obo/GO_0055070		
NCBITaxon:7178	biolink:OrganismalEntity	Culex tritaeniorhynchus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_7178		
GO:0055076	biolink:NamedThing	transition metal ion homeostasis	Any process involved in the maintenance of an internal steady state of transition metal ions within an organism or cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver.		mondo.json		http://purl.obolibrary.org/obo/GO_0055076		
UBERON:0003135	biolink:AnatomicalEntity	male reproductive organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003135		
HGNC:1540	biolink:NamedThing	SERPINA6			mondo.json		http://identifiers.org/hgnc/1540		
HGNC:1541	biolink:NamedThing	CBL			mondo.json		http://identifiers.org/hgnc/1541		
UBERON:0003133	biolink:AnatomicalEntity	reproductive organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003133		
GO:0055078	biolink:NamedThing	sodium ion homeostasis	Any process involved in the maintenance of an internal steady state of sodium ions within an organism or cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0055078		
UBERON:0003134	biolink:AnatomicalEntity	female reproductive organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003134		
UBERON:0005795	biolink:AnatomicalEntity	embryonic uterus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005795		
NCBITaxon:7174	biolink:OrganismalEntity	Culex <genus>		GC_ID:1	mondo.json	Culex	http://purl.obolibrary.org/obo/NCBITaxon_7174		
MONDO:0006507	biolink:Disease	hereditary hemochromatosis	An inherited metabolic disorder characterized by iron accumulation in the tissues.	GARD:0010746|ICD10CM:E83.110|DOID:2352|EFO:1000642|NCIT:C84481|MESH:D006432|SCTID:399187006|OMIMPS:235200|SCTID:35400008	mondo.json	diabetes bronze|hemochromatosis, hereditary|haemochromatosis|hemochromatosis|iron storage disorder	http://purl.obolibrary.org/obo/MONDO_0006507	http://identifiers.org/snomedct/35400008|DOID:2352|https://omim.org/phenotypicSeries/PS235200|http://identifiers.org/mesh/D006432|http://purl.bioontology.org/ontology/ICD10CM/E83.110|NCIT:C84481	
MONDO:0006508	biolink:Disease	obsolete infantile epileptic encephalopathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006508		
MONDO:0006505	biolink:Disease	basal ganglia cerebrovascular disorder	A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis).	MESH:D020144|EFO:1000640|DOID:10991|UMLS:C0751739	mondo.json	collection of basal ganglia cerebrovascular disorder|cerebrovascular disorder of collection of basal ganglia	http://purl.obolibrary.org/obo/MONDO_0006505	DOID:10991|UMLS:C0751739|http://identifiers.org/mesh/D020144	
MONDO:0006506	biolink:Disease	congenital nonspherocytic hemolytic anemia	Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase.	EFO:1000641|MESH:D000746|ICD9:282.3|SCTID:301317008|UMLS:C0002882|DOID:2861	mondo.json	HNSHA|hereditary nonspherocytic hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0006506	UMLS:C0002882|http://identifiers.org/snomedct/301317008|http://identifiers.org/mesh/D000746|DOID:2861	
MONDO:0006503	biolink:Disease	obsolete episodic ataxia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006503		
MONDO:0006504	biolink:Disease	acquired metabolic disease	An instance of metabolic disease that is acquired during the lifetime of the individual.	DOID:0060158|EFO:1000639	mondo.json	acquired metabolic disease	http://purl.obolibrary.org/obo/MONDO_0006504	DOID:0060158	
MONDO:0006501	biolink:Disease	obsolete inflammatory skin disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006501		
HGNC:1546	biolink:NamedThing	SERPINH1			mondo.json		http://identifiers.org/hgnc/1546		
UBERON:0003119	biolink:AnatomicalEntity	pharyngeal arch artery 2			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003119		
MONDO:0006502	biolink:Disease	acute respiratory distress syndrome	Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition.	MedDRA:10001052|ICD10CM:J80|NCIT:C3353|GARD:0005698|EFO:1000637	mondo.json	acute lung injury|ARDS|shock lung|non-cardiogenic pulmonary edema|increased-permeability pulmonary edema|acute respiratory distress syndrome|ALI|Stiff lung	http://purl.obolibrary.org/obo/MONDO_0006502	http://purl.bioontology.org/ontology/ICD10CM/J80|NCIT:C3353	gard_rare
MONDO:0006500	biolink:Disease	hemangioma	A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels.	ICD9:228.0|MESH:D006391|SCTID:400210000|ICD9:228.09|UMLS:C0018916|ICD9:228.00|ONCOTREE:HEMA|ICDO:9120/0|NCIT:C3085|HP:0001028|DOID:255|GARD:0010759|EFO:1000635	mondo.json	hemangioma|benign angioma|benign hemangioma|angioma|hemangioma, benign	http://purl.obolibrary.org/obo/MONDO_0006500	DOID:255|http://identifiers.org/snomedct/400210000|http://identifiers.org/mesh/D006391|UMLS:C0018916|NCIT:C3085	
UBERON:0003120	biolink:AnatomicalEntity	pharyngeal arch artery 3			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003120		
UBERON:0003121	biolink:AnatomicalEntity	pharyngeal arch artery 4			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003121		
GO:0055085	biolink:NamedThing	transmembrane transport	The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other.		mondo.json	membrane transport|ATP hydrolysis coupled transmembrane transport	http://purl.obolibrary.org/obo/GO_0055085		
GO:0055086	biolink:NamedThing	nucleobase-containing small molecule metabolic process	The cellular chemical reactions and pathways involving a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide.		mondo.json	nucleobase, nucleoside and nucleotide metabolic process|nucleobase, nucleoside and nucleotide metabolism	http://purl.obolibrary.org/obo/GO_0055086		
NCBITaxon:7180	biolink:OrganismalEntity	Haemagogus <genus>		GC_ID:1	mondo.json	Haemagogus	http://purl.obolibrary.org/obo/NCBITaxon_7180		
GO:0055080	biolink:NamedThing	cation homeostasis	Any process involved in the maintenance of an internal steady state of cations within an organism or cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0055080		
GO:0055081	biolink:NamedThing	anion homeostasis	Any process involved in the maintenance of an internal steady state of anions within an organism or cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0055081		
GO:0055082	biolink:NamedThing	cellular chemical homeostasis	Any biological process involved in the maintenance of an internal steady state of a chemical at the level of the cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0055082		
UBERON:0003128	biolink:AnatomicalEntity	cranium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003128		
UBERON:0003129	biolink:AnatomicalEntity	skull			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003129		
UBERON:0003126	biolink:AnatomicalEntity	trachea			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003126		
NCBITaxon:70999	biolink:OrganismalEntity	Triatominae		GC_ID:1	mondo.json	kissing bugs	http://purl.obolibrary.org/obo/NCBITaxon_70999		
UBERON:0005788	biolink:AnatomicalEntity	lamina rara interna			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005788		
UBERON:0003124	biolink:AnatomicalEntity	chorion membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003124		
HGNC:1552	biolink:NamedThing	CBX2			mondo.json		http://identifiers.org/hgnc/1552		
GO:0055088	biolink:NamedThing	lipid homeostasis	Any process involved in the maintenance of an internal steady state of lipid within an organism or cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0055088		
UBERON:0003122	biolink:AnatomicalEntity	pharyngeal arch artery 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003122		
UBERON:0003123	biolink:AnatomicalEntity	pharyngeal arch artery 6			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003123		
HGNC:1550	biolink:NamedThing	CBS			mondo.json		http://identifiers.org/hgnc/1550		
UBERON:0017750	biolink:AnatomicalEntity	proximal mesopodial endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0017750		
UBERON:0017751	biolink:AnatomicalEntity	proximal mesopodial cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0017751		
CHEBI:58958	biolink:ChemicalSubstance	organosulfate oxoanion	An organic anion of general formula RS(=O)2O(-) where R is an organyl group.		mondo.json	organosulfate oxoanions	http://purl.obolibrary.org/obo/CHEBI_58958		
FOODON:00002420	biolink:NamedThing	has ingredient	A relation attaching between a food material and another food material that has been added to it at some point in its history.		mondo.json		http://purl.obolibrary.org/obo/FOODON_00002420		
UBERON:0003110	biolink:AnatomicalEntity	otic region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003110		
GO:0055092	biolink:NamedThing	sterol homeostasis	Any process involved in the maintenance of an internal steady state of sterol within an organism or cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0055092		
UBERON:0003117	biolink:AnatomicalEntity	pharyngeal arch 6			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003117		
UBERON:0003118	biolink:AnatomicalEntity	pharyngeal arch artery 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003118		
NCBITaxon:7157	biolink:OrganismalEntity	Culicidae		GC_ID:1	mondo.json	mosquitos|mosquitos	http://purl.obolibrary.org/obo/NCBITaxon_7157		
UBERON:0003115	biolink:AnatomicalEntity	pharyngeal arch 4			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003115		
CHEBI:58953	biolink:ChemicalSubstance	saturated fatty acid anion	Any fatty acid anion in which there is no C-C unsaturation.		mondo.json	saturated fatty acid anions	http://purl.obolibrary.org/obo/CHEBI_58953		
UBERON:0003116	biolink:AnatomicalEntity	pharyngeal arch 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003116		
UBERON:0005777	biolink:AnatomicalEntity	glomerular basement membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005777		
UBERON:0003113	biolink:AnatomicalEntity	dermatocranium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003113		
UBERON:0003114	biolink:AnatomicalEntity	pharyngeal arch 3			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003114		
CHEBI:58951	biolink:ChemicalSubstance	short-chain fatty acid anion	Any fatty acid anion obtained by removal of a proton from the carboxy group of a short-chain fatty acid (chain length of less than C6).		mondo.json	a short-chain fatty acid|short-chain fatty acid anions	http://purl.obolibrary.org/obo/CHEBI_58951		
UBERON:0003111	biolink:AnatomicalEntity	sphenoid region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003111		
UBERON:0003112	biolink:AnatomicalEntity	olfactory region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003112		
CHEBI:46963	biolink:ChemicalSubstance	2-aminooctadecene-1,3-diol	An aminodiol composed of any octadecene having hydroxy functional groups at positions 1 and 3 and an amino substituent at position 2.		mondo.json	2-aminooctadecene-1,3-diols|2-aminooctadecene-1,3-diol	http://purl.obolibrary.org/obo/CHEBI_46963		
CHEBI:46964	biolink:ChemicalSubstance	2-aminooctadec-4-ene-1,3-diol	A 2-aminooctadecene-1,3-diol having its double bond at position 4.		mondo.json	2-aminooctadec-4-ene-1,3-diol|2-aminooctadec-4-ene-1,3-diols	http://purl.obolibrary.org/obo/CHEBI_46964		
CHEBI:46965	biolink:ChemicalSubstance	(2R,3S)-2-aminooctadec-4-ene-1,3-diol	A 2-aminooctadec-4-ene-1,3-diol having (2R,3S)-configuration.		mondo.json	(2R,3S)-2-aminooctadec-4-ene-1,3-diol	http://purl.obolibrary.org/obo/CHEBI_46965		
NCBITaxon:7162	biolink:OrganismalEntity	Ochlerotatus triseriatus		GC_ID:1	mondo.json	Aedes triseriatus	http://purl.obolibrary.org/obo/NCBITaxon_7162		
UBERON:0005760	biolink:AnatomicalEntity	urorectal septum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005760		
HP:0005832	biolink:PhenotypicFeature	Dysharmonic delayed bone age	A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones.	UMLS:C1859444	mondo.json		http://purl.obolibrary.org/obo/HP_0005832		
CHEBI:46967	biolink:ChemicalSubstance	L-erythro-sphingosine	A (2R,3S)-2-aminooctadec-4-ene-1,3-diol in which the double bond has E geochemistry.		mondo.json	L-erythro-sphing-4-enine|(2R,3S,4E)-2-aminooctadec-4-ene-1,3-diol|L-Erythro-c18-sphingosine	http://purl.obolibrary.org/obo/CHEBI_46967		
CHEBI:58945	biolink:ChemicalSubstance	organophosphate oxoanion	An organic phosphoric acid derivative in which one or more oxygen atoms of the phosphate group(s) has been deprotonated.		mondo.json	organophosphate oxoanions	http://purl.obolibrary.org/obo/CHEBI_58945		
UBERON:0005769	biolink:AnatomicalEntity	basement membrane of epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005769		
UBERON:0003104	biolink:AnatomicalEntity	mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003104		
UBERON:0003102	biolink:AnatomicalEntity	surface structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003102		
HGNC:1573	biolink:NamedThing	KRIT1			mondo.json		http://identifiers.org/hgnc/1573		
NCBITaxon:7165	biolink:OrganismalEntity	Anopheles gambiae		PMID:16076241|GC_ID:1	mondo.json	Anopheles gambiae sensu stricto|African malaria mosquito|Anopheles gambiae S	http://purl.obolibrary.org/obo/NCBITaxon_7165		
UBERON:0003103	biolink:AnatomicalEntity	compound organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003103		
UBERON:0005764	biolink:AnatomicalEntity	acellular membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005764		
UBERON:0003100	biolink:AnatomicalEntity	female organism	Gonochoristic organism that can produce female gametes.		mondo.json		http://purl.obolibrary.org/obo/UBERON_0003100		
NCBITaxon:7164	biolink:OrganismalEntity	Anopheles <genus>		GC_ID:1	mondo.json	Anopheles	http://purl.obolibrary.org/obo/NCBITaxon_7164		
UBERON:0003101	biolink:AnatomicalEntity	male organism			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003101		
GO:0031226	biolink:NamedThing	intrinsic component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane.		mondo.json	intrinsic to plasma membrane	http://purl.obolibrary.org/obo/GO_0031226		
GO:0070838	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0070838		
GO:0043217	biolink:NamedThing	myelin maintenance	The process of preserving the structure and function of mature myelin. This includes maintaining the compact structure of myelin necessary for its electrical insulating characteristics as well as the structure of non-compact regions such as Schmidt-Lantermann clefts and paranodal loops. This does not include processes responsible for maintaining the nodes of Ranvier, which are not part of the myelin sheath.		mondo.json		http://purl.obolibrary.org/obo/GO_0043217		
GO:0031224	biolink:NamedThing	intrinsic component of membrane	The component of a membrane consisting of the gene products having some covalently attached portion, for example part of a peptide sequence or some other covalently attached group such as a GPI anchor, which spans or is embedded in one or both leaflets of the membrane.		mondo.json	intrinsic to membrane	http://purl.obolibrary.org/obo/GO_0031224		
HGNC:18085	biolink:NamedThing	TMEM199			mondo.json		http://identifiers.org/hgnc/18085		
HGNC:18083	biolink:NamedThing	TRPV4			mondo.json		http://identifiers.org/hgnc/18083		
HGNC:18084	biolink:NamedThing	TRPV3			mondo.json		http://identifiers.org/hgnc/18084		
GO:0043225	biolink:NamedThing	ATPase-coupled inorganic anion transmembrane transporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + inorganic anion(out) = ADP + phosphate + inorganic anion(in).		mondo.json	anion transmembrane-transporting ATPase activity|anion-transporting ATPase activity|ATP-dependent anion transmembrane transporter activity|anion ABC transporter|ATPase-coupled anion transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0043225		
GO:0006281	biolink:NamedThing	DNA repair	The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.		mondo.json		http://purl.obolibrary.org/obo/GO_0006281		
GO:0006282	biolink:NamedThing	regulation of DNA repair	Any process that modulates the frequency, rate or extent of DNA repair.		mondo.json		http://purl.obolibrary.org/obo/GO_0006282		
GO:0043227	biolink:NamedThing	membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.		mondo.json	membrane-enclosed organelle	http://purl.obolibrary.org/obo/GO_0043227		
GO:0043226	biolink:NamedThing	organelle	Organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, and prokaryotic structures such as anammoxosomes and pirellulosomes. Excludes the plasma membrane.		mondo.json		http://purl.obolibrary.org/obo/GO_0043226		
GO:0043229	biolink:NamedThing	intracellular organelle	Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane.		mondo.json		http://purl.obolibrary.org/obo/GO_0043229		
GO:0043228	biolink:NamedThing	non-membrane-bounded organelle	Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane. Includes ribosomes, the cytoskeleton and chromosomes.		mondo.json	non-membrane-enclosed organelle|biological condensate	http://purl.obolibrary.org/obo/GO_0043228		
NCBITaxon:236781	biolink:OrganismalEntity	Tineinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_236781		
HGNC:18053	biolink:NamedThing	PKD1L1			mondo.json		http://identifiers.org/hgnc/18053		
GO:0043234	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0043234		
NCBITaxon:474019	biolink:OrganismalEntity	Sarcoptinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_474019		
GO:0043233	biolink:NamedThing	organelle lumen	The internal volume enclosed by the membranes of a particular organelle; includes the volume enclosed by a single organelle membrane, e.g. endoplasmic reticulum lumen, or the volume enclosed by the innermost of the two lipid bilayers of an organelle envelope, e.g. nuclear lumen.		mondo.json		http://purl.obolibrary.org/obo/GO_0043233		
GO:0043235	biolink:NamedThing	receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.		mondo.json		http://purl.obolibrary.org/obo/GO_0043235		
GO:0045893	biolink:NamedThing	positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.		mondo.json	upregulation of transcription, DNA-dependent|stimulation of gene-specific transcription|up regulation of gene-specific transcription|positive regulation of cellular transcription, DNA-dependent|positive regulation of gene-specific transcription|positive regulation of transcription, DNA-dependent|stimulation of transcription, DNA-dependent|up regulation of transcription, DNA-dependent|upregulation of gene-specific transcription|activation of gene-specific transcription|activation of transcription, DNA-dependent|positive regulation of transcription, DNA-templated|up-regulation of transcription, DNA-dependent|transcription activator activity|up-regulation of gene-specific transcription	http://purl.obolibrary.org/obo/GO_0045893		
GO:0043230	biolink:NamedThing	extracellular organelle	Organized structure of distinctive morphology and function, occurring outside the cell. Includes, for example, extracellular membrane vesicles (EMVs) and the cellulosomes of anaerobic bacteria and fungi.		mondo.json		http://purl.obolibrary.org/obo/GO_0043230		
GO:0043232	biolink:NamedThing	intracellular non-membrane-bounded organelle	Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring within the cell. Includes ribosomes, the cytoskeleton and chromosomes.		mondo.json	intracellular non-membrane-enclosed organelle	http://purl.obolibrary.org/obo/GO_0043232		
GO:0045892	biolink:NamedThing	negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.		mondo.json	inhibition of gene-specific transcription|negative regulation of transcription, DNA-templated|negative regulation of cellular transcription, DNA-dependent|negative regulation of gene-specific transcription|down-regulation of gene-specific transcription|downregulation of transcription, DNA-dependent|down regulation of gene-specific transcription|transcription repressor activity|down regulation of transcription, DNA-dependent|downregulation of gene-specific transcription|inhibition of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|down-regulation of transcription, DNA-dependent	http://purl.obolibrary.org/obo/GO_0045892		
GO:0043231	biolink:NamedThing	intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.		mondo.json	intracellular membrane-enclosed organelle	http://purl.obolibrary.org/obo/GO_0043231		
GO:0070859	biolink:NamedThing	positive regulation of bile acid biosynthetic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids.		mondo.json	upregulation of bile acid biosynthetic process|positive regulation of bile acid anabolism|positive regulation of bile acid biosynthesis|up regulation of bile acid biosynthetic process|positive regulation of bile acid synthesis|stimulation of bile acid biosynthetic process|up-regulation of bile acid biosynthetic process|positive regulation of bile acid formation|activation of bile acid biosynthetic process	http://purl.obolibrary.org/obo/GO_0070859		
GO:0070857	biolink:NamedThing	regulation of bile acid biosynthetic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids.		mondo.json	regulation of bile acid synthesis|regulation of bile acid formation|regulation of bile acid biosynthesis|regulation of bile acid anabolism	http://purl.obolibrary.org/obo/GO_0070857		
HGNC:33699	biolink:NamedThing	KHDC3L			mondo.json		http://identifiers.org/hgnc/33699		
GO:0070858	biolink:NamedThing	negative regulation of bile acid biosynthetic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids.		mondo.json	inhibition of bile acid biosynthetic process|down-regulation of bile acid biosynthetic process|negative regulation of bile acid biosynthesis|negative regulation of bile acid anabolism|downregulation of bile acid biosynthetic process|negative regulation of bile acid synthesis|down regulation of bile acid biosynthetic process|negative regulation of bile acid formation	http://purl.obolibrary.org/obo/GO_0070858		
HGNC:18062	biolink:NamedThing	GPT2			mondo.json		http://identifiers.org/hgnc/18062		
GO:0006259	biolink:NamedThing	DNA metabolic process	Any cellular metabolic process involving deoxyribonucleic acid. This is one of the two main types of nucleic acid, consisting of a long, unbranched macromolecule formed from one, or more commonly, two, strands of linked deoxyribonucleotides.		mondo.json	cellular DNA metabolism|DNA metabolism	http://purl.obolibrary.org/obo/GO_0006259		
HGNC:18060	biolink:NamedThing	ARX			mondo.json		http://identifiers.org/hgnc/18060		
GO:0043244	biolink:NamedThing	regulation of protein-containing complex disassembly	Any process that modulates the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components.		mondo.json	regulation of protein complex disassembly	http://purl.obolibrary.org/obo/GO_0043244		
GO:0043243	biolink:NamedThing	positive regulation of protein-containing complex disassembly	Any process that activates or increases the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components.		mondo.json	up regulation of protein complex disassembly|activation of protein complex disassembly|stimulation of protein complex disassembly|positive regulation of protein complex disassembly|upregulation of protein complex disassembly|up-regulation of protein complex disassembly	http://purl.obolibrary.org/obo/GO_0043243		
GO:0043242	biolink:NamedThing	negative regulation of protein-containing complex disassembly	Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components.		mondo.json	down-regulation of protein complex disassembly|down regulation of protein complex disassembly|negative regulation of protein complex disassembly|downregulation of protein complex disassembly|inhibition of protein complex disassembly	http://purl.obolibrary.org/obo/GO_0043242		
FOODON:03400352	biolink:NamedThing	international agency food product type	Renamed from *PRODUCT TYPE, CODEX ALIMENTARIUS* in LanguaL 2008.	http://www.langual.org/langual_thesaurus.asp?termid=A0352	mondo.json		http://purl.obolibrary.org/obo/FOODON_03400352		
MONDO:0043361	biolink:Disease	May-Thurner syndrome	A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation.	UMLS:C3165062|MESH:D062108|GARD:0012141|SCTID:448804008	mondo.json	Iliac vein compression syndrome|iliac vein compression syndrome|May-Thurner syndrome|Iliocaval compression syndromes|compression syndromes, Iliocaval|syndrome, May-Thurner|syndrome, Cockett|May Thurner syndrome|compression syndrome, Iliocaval|syndrome, Iliocaval compression|Iliocaval compression syndrome|syndromes, Iliocaval compression|Cockett syndrome	http://purl.obolibrary.org/obo/MONDO_0043361	http://identifiers.org/snomedct/448804008|http://identifiers.org/mesh/D062108|UMLS:C3165062	gard_rare
HGNC:21686	biolink:NamedThing	RNASET2			mondo.json		http://identifiers.org/hgnc/21686		
GO:0033844	biolink:NamedThing	galactose-6-sulfurylase activity	Catalysis of the elimination of sulfate from the D-galactose 6-sulfate residues of porphyran, producing 3,6-anhydrogalactose residues.		mondo.json	galactose 6-sulfatase activity|galactose-6-sulfatase activity|D-galactose-6-sulfate:alkyltransferase (cyclizing) activity|porphyran sulfatase activity	http://purl.obolibrary.org/obo/GO_0033844		
GO:0043255	biolink:NamedThing	regulation of carbohydrate biosynthetic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of carbohydrates.		mondo.json	regulation of carbohydrate anabolism|regulation of carbohydrate synthesis|regulation of carbohydrate biosynthesis|regulation of carbohydrate formation	http://purl.obolibrary.org/obo/GO_0043255		
GO:0043254	biolink:NamedThing	regulation of protein-containing complex assembly	Any process that modulates the frequency, rate or extent of protein complex assembly.		mondo.json	regulation of protein complex assembly	http://purl.obolibrary.org/obo/GO_0043254		
MONDO:0043364	biolink:Disease	eosinophil peroxidase deficiency	A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix.	SCTID:711160007|UMLS:C1850000|MESH:C564893|GARD:0012361|OMIM:261500	mondo.json	presentey anomaly|eosinophil peroxidase deficiency|EPXD|eosinophil peroxidase deficiency, partial|peroxidase and phospholipid deficiency in eosinophils|Presentey anomaly|eosinophil peroxidase deficiency, Partial	http://purl.obolibrary.org/obo/MONDO_0043364	http://identifiers.org/snomedct/711160007|http://identifiers.org/mesh/C564893|UMLS:C1850000|https://omim.org/entry/261500	gard_rare
GO:0070875	biolink:NamedThing	positive regulation of glycogen metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving glycogen.		mondo.json	positive regulation of glycogen metabolism	http://purl.obolibrary.org/obo/GO_0070875		
GO:0070873	biolink:NamedThing	regulation of glycogen metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving glycogen.		mondo.json	regulation of glycogen metabolism	http://purl.obolibrary.org/obo/GO_0070873		
GO:0070874	biolink:NamedThing	negative regulation of glycogen metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving glycogen.		mondo.json	negative regulation of glycogen metabolism	http://purl.obolibrary.org/obo/GO_0070874		
MONDO:0031386	biolink:Disease	cardioacrofacial dysplasia		OMIMPS:619142	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031386	https://omim.org/phenotypicSeries/PS619142	
HGNC:18037	biolink:NamedThing	ARID2			mondo.json		http://identifiers.org/hgnc/18037		
MONDO:0031384	biolink:Disease	autoinflammatory syndrome, familial, Behcet-like		OMIMPS:616744	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031384	https://omim.org/phenotypicSeries/PS616744	
MONDO:0043370	biolink:Disease	secondary adrenal insufficiency	A hormonal disorder that occurs when lack of corticotropin-releasing hormone (CRH) secretion from the hypothalamus or adrenocorticotropic hormone (ACTH) secretion from the pituitary is responsible for hypofunction of the adrenal cortex.	NCIT:C62602|GARD:0012735|UMLS:C0948387|UMLS:C0271738|SCTID:16685009	mondo.json	central adrenal insufficiency|secondary adrenal insufficiency|secondary hypocortisolism|central Hypoadrenalism|secondary adrenocortical insufficiency|hypocortisolism secondary to another disorder	http://purl.obolibrary.org/obo/MONDO_0043370	NCIT:C62602|UMLS:C0948387|http://identifiers.org/snomedct/16685009|UMLS:C0271738	gard_rare
HGNC:21694	biolink:NamedThing	POU6F2			mondo.json		http://identifiers.org/hgnc/21694		
HGNC:21699	biolink:NamedThing	CERKL			mondo.json		http://identifiers.org/hgnc/21699		
HGNC:21698	biolink:NamedThing	RNF216			mondo.json		http://identifiers.org/hgnc/21698		
HGNC:18040	biolink:NamedThing	ARID1B			mondo.json		http://identifiers.org/hgnc/18040		
MONDO:0043377	biolink:Disease	juvenile spondyloarthropathy	A group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood.	UMLS:C0409676|GARD:0012939|SCTID:239806000|NCIT:C114347	mondo.json	JSpA|juvenile spondyloarthropathy|juvenile Spondyloarthritis	http://purl.obolibrary.org/obo/MONDO_0043377	NCIT:C114347|UMLS:C0409676|http://identifiers.org/snomedct/239806000	gard_rare
GO:0043269	biolink:NamedThing	regulation of ion transport	Any process that modulates the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0043269		
MONDO:0043373	biolink:Disease	sudden sensorineural hearing loss	Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning.	MESH:D003639|GARD:0012927|UMLS:C4275242|SCTID:715239002|Orphanet:90059	mondo.json	sudden hearing loss|deafness, sudden|sudden deafness|sudden sensorineural hearing loss|acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma	http://purl.obolibrary.org/obo/MONDO_0043373	UMLS:C4275242|http://identifiers.org/mesh/D003639|Orphanet:90059|http://identifiers.org/snomedct/715239002	gard_rare
GO:0043264	biolink:NamedThing	extracellular non-membrane-bounded organelle	Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring outside the cell.		mondo.json	extracellular non-membrane-enclosed organelle	http://purl.obolibrary.org/obo/GO_0043264		
GO:0018215	biolink:NamedThing	protein phosphopantetheinylation	The modification of a protein amino acid by phosphopantetheinylation.		mondo.json	protein amino acid phosphopantetheinylation	http://purl.obolibrary.org/obo/GO_0018215		
GO:0043270	biolink:NamedThing	positive regulation of ion transport	Any process that activates or increases the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	up regulation of ion transport|activation of ion transport|stimulation of ion transport|upregulation of ion transport|up-regulation of ion transport	http://purl.obolibrary.org/obo/GO_0043270		
UBERON:0005808	biolink:AnatomicalEntity	bone tissue of long bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005808		
GO:0043271	biolink:NamedThing	negative regulation of ion transport	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	down-regulation of ion transport|down regulation of ion transport|downregulation of ion transport|inhibition of ion transport	http://purl.obolibrary.org/obo/GO_0043271		
UBERON:0005806	biolink:AnatomicalEntity	portal system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005806		
GO:0006206	biolink:NamedThing	pyrimidine nucleobase metabolic process	The chemical reactions and pathways involving pyrimidine nucleobases, 1,3-diazine, organic nitrogenous bases.		mondo.json	pyrimidine metabolic process|pyrimidine base metabolism|pyrimidine metabolism|pyrimidine base metabolic process	http://purl.obolibrary.org/obo/GO_0006206		
UBERON:0005805	biolink:AnatomicalEntity	dorsal aorta			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005805		
NCBITaxon:2560602	biolink:OrganismalEntity	Mumps orthorubulavirus		GC_ID:1	mondo.json	Mumps virus|Mumps rubulavirus	http://purl.obolibrary.org/obo/NCBITaxon_2560602		
UBERON:0005813	biolink:AnatomicalEntity	tubercle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005813		
FOODON:03400306	biolink:NamedThing	nut or seed product (us cfr)		http://www.langual.org/langual_thesaurus.asp?termid=A0306	mondo.json		http://purl.obolibrary.org/obo/FOODON_03400306		
HGNC:18021	biolink:NamedThing	TMC6			mondo.json		http://identifiers.org/hgnc/18021		
HGNC:21679	biolink:NamedThing	RSPO1			mondo.json		http://identifiers.org/hgnc/21679		
GO:0070887	biolink:NamedThing	cellular response to chemical stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0070887		
UBERON:0005800	biolink:AnatomicalEntity	section of aorta			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005800		
HGNC:18025	biolink:NamedThing	COA6			mondo.json		http://identifiers.org/hgnc/18025		
HGNC:21642	biolink:NamedThing	VARS2			mondo.json		http://identifiers.org/hgnc/21642		
MONDO:0018361	biolink:Disease	neonatal scleroderma		Orphanet:398127	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018361	Orphanet:398127	ordo_disease
MONDO:0018360	biolink:Disease	neonatal lupus erythematosus	A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis.	MESH:C536397|EFO:0004537|GARD:0009563|UMLS:C0409979|NCIT:C99236|Orphanet:398124|SCTID:95609003	mondo.json	neonatal lupus|congenital lupus|neonatal lupus syndrome|neonatal systemic lupus erythematosus|congenital lupus erythematosus|neonatal SLE	http://purl.obolibrary.org/obo/MONDO_0018360	UMLS:C0409979|http://identifiers.org/mesh/C536397|http://identifiers.org/snomedct/95609003|Orphanet:398124|NCIT:C99236	ordo_disease
HGNC:21641	biolink:NamedThing	TSPAN12			mondo.json		http://identifiers.org/hgnc/21641		
HGNC:21645	biolink:NamedThing	CHCHD2			mondo.json		http://identifiers.org/hgnc/21645		
MONDO:0006378	biolink:Disease	pleural epithelioid mesothelioma	Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns.	EFO:1000484|UMLS:C1709574|NCIT:C45662	mondo.json	pleura malignant epithelioid mesothelioma|pleural epithelioid mesothelioma|malignant epithelioid mesothelioma of pleura	http://purl.obolibrary.org/obo/MONDO_0006378	NCIT:C45662|UMLS:C1709574	
MONDO:0006379	biolink:Disease	obsolete pleural mesothelioma			mondo.json	obsolete pleural mesothelioma (disease)	http://purl.obolibrary.org/obo/MONDO_0006379		
MONDO:0006376	biolink:Disease	obsolete plantar fibromatosis	OBSOLETE. A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0006376		
MONDO:0006377	biolink:Disease	pleural biphasic mesothelioma	Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor.	EFO:1000483|NCIT:C45665|UMLS:C1709570	mondo.json	pleural biphasic mesothelioma	http://purl.obolibrary.org/obo/MONDO_0006377	NCIT:C45665|UMLS:C1709570	
MONDO:0006374	biolink:Disease	placental choriocarcinoma	Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur.	DOID:2024|SCTID:448401007|NCIT:C8893|UMLS:C0855173|EFO:1000479	mondo.json	placenta choriocarcinoma (disease)|choriocarcinoma of the placenta|choriocarcinoma of placenta|placental choriocarcinoma|placenta choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006374	DOID:2024|NCIT:C8893|UMLS:C0855173|http://identifiers.org/snomedct/448401007	
MONDO:0006375	biolink:Disease	placental hemangioma	A hemangioma arising from the fetal blood vessels in the placental villi.	ICD9:219.8|EFO:1000480|NCIT:C4868|DOID:277|UMLS:C0677608|SCTID:237268002	mondo.json	Chorangioma|hemangioma of the placenta|angioma of the placenta|Chorangioma placentae|placental angioma|chorioangioma|Chorangioma of the placenta|placental hemangioma|placenta hemangioma|hemangioma of placenta|angioma of placenta	http://purl.obolibrary.org/obo/MONDO_0006375	NCIT:C4868|UMLS:C0677608|http://identifiers.org/snomedct/237268002|DOID:277	
MONDO:0006372	biolink:Disease	pituicytoma	An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido.	UMLS:C2986550|NCIT:C94524|Orphanet:251623|ONCOTREE:PTCY|ICD9:237.0|EFO:1000477|SCTID:608817003|ICDO:9432/1	mondo.json	PTCY|pituicytoma (WHO grade I)|posterior pituitary astrocytoma|pituicytoma	http://purl.obolibrary.org/obo/MONDO_0006372	http://identifiers.org/snomedct/608817003|UMLS:C2986550|Orphanet:251623|NCIT:C94524	ordo_disease
MONDO:0043320	biolink:Disease	piriformis syndrome	A condition referring to irritation or compression of the proximal sciatic nerve, secondary to contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-related sciatica.	NCIT:C85012|UMLS:C0458224|SCTID:129179000|GARD:0010026|MESH:D055958	mondo.json	pelvic outlet syndrome|syndrome, piriformis muscle|wallet sciatica|syndromes, piriformis muscle|piriformis syndrome|piriformis muscle syndrome|piriformis muscle syndromes|deep gluteal syndrome|Pseudosciatica|muscle syndromes, piriformis|syndromes, piriformis|syndrome, piriformis|muscle syndrome, piriformis|hip socket neuropathy|piriformis syndromes|pyriformis syndrome	http://purl.obolibrary.org/obo/MONDO_0043320	http://identifiers.org/snomedct/129179000|UMLS:C0458224|http://identifiers.org/mesh/D055958|NCIT:C85012	gard_rare
MONDO:0006373	biolink:Disease	pituitary gland adenoma	A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss.	Orphanet:99408|ICDO:8272/0|NCIT:C3329|MedDRA:10035079|ICD10CM:D35.2|SCTID:254956000|UMLS:C0032000|DOID:3829|EFO:1000478|ONCOTREE:PTAD	mondo.json	adenoma of pituitary gland|pituitary gland adenoma|adenoma of the pituitary|adenoma of pituitary|PTAD|adenoma, anterior lobe pituitary gland, benign|pituitary adenoma|adenoma of the pituitary gland	http://purl.obolibrary.org/obo/MONDO_0006373	DOID:3829|UMLS:C0032000|NCIT:C3329|http://identifiers.org/snomedct/254956000|Orphanet:99408	ordo_group_of_disorders|disease_grouping
MONDO:0006370	biolink:Disease	obsolete pineoblastoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006370		
MONDO:0006371	biolink:Disease	obsolete pineocytoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006371		
MONDO:0043317	biolink:Disease	amyopathic dermatomyositis	Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin.	SCTID:238935002|UMLS:C0406645|GARD:0009907|MESH:C538250	mondo.json	ADM|dermatomyositis sine myositis|amyopathic dermatomyositis	http://purl.obolibrary.org/obo/MONDO_0043317	http://identifiers.org/mesh/C538250|UMLS:C0406645|http://identifiers.org/snomedct/238935002	gard_rare
MONDO:0018367	biolink:Disease	obsolete clear cell adenocarcinoma of ovary			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018367		
HGNC:21637	biolink:NamedThing	SATB2			mondo.json		http://identifiers.org/hgnc/21637		
MONDO:0018366	biolink:Disease	obsolete mucinous adenocarcinoma of ovary			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018366		
MONDO:0018369	biolink:Disease	immature ovarian teratoma	A malignant germ cell tumor arising from the ovary. It usually affects females in their first two decades of life. It contains variable amounts of immature embryonal tissues. Based on the amount of immature neuroepithelial component, immature teratomas are graded from 1 to 3. The stage and grade of the tumor and the grade of the metastatic tumor are the important factors that predict prognosis. The use of cisplatin-based combination chemotherapy has significantly improved the survival rates of the patients.	UMLS:C0346182|SCTID:254871000|UMLS:CN205036|ONCOTREE:OIMT|NCIT:C8111|DOID:6331|Orphanet:398987	mondo.json	malignant teratoma of ovary|immature germ cell teratoma of the ovary|immature germ cell teratoma of ovary|immature teratoma|ovarian malignant teratoma|ovarian germ cell immature teratoma|malignant teratoma of the ovary|malignant ovarian germ cell teratoma|ovarian immature germ cell teratoma|immature teratoma of the ovary|ovarian immature teratoma|immature teratoma of ovary|immature ovarian teratoma|ovary malignant teratoma|malignant ovarian teratoma|malignant germ cell teratoma of the ovary|malignant germ cell teratoma of ovary	http://purl.obolibrary.org/obo/MONDO_0018369	UMLS:CN205036|Orphanet:398987|http://identifiers.org/snomedct/254871000|UMLS:C0346182|DOID:6331|NCIT:C8111	ordo_disease
MONDO:0018368	biolink:Disease	primary peritoneal serous/papillary carcinoma		Orphanet:398980|UMLS:CN205035|UMLS:C1368918|NCIT:C7695|DOID:6228	mondo.json	primary peritoneal serous papillary adenocarcinoma|primary serous papillary carcinoma of peritoneum|peritoneal serous papillary adenocarcinoma|PPSPC|primary peritoneal serous papillary carcinoma	http://purl.obolibrary.org/obo/MONDO_0018368	UMLS:C1368918|NCIT:C7695|UMLS:CN205035|Orphanet:398980|DOID:6228	ordo_disease
MONDO:0018363	biolink:Disease	focal facial dermal dysplasia	Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.	Orphanet:398166|MESH:C537068|OMIMPS:136500	mondo.json	FFDD	http://purl.obolibrary.org/obo/MONDO_0018363	https://omim.org/phenotypicSeries/PS136500|http://identifiers.org/mesh/C537068|Orphanet:398166	ordo_malformation_syndrome
MONDO:0018362	biolink:Disease	persistent idiopathic facial pain		Orphanet:398147	mondo.json	AFP|atypical facial pain|PIFP	http://purl.obolibrary.org/obo/MONDO_0018362	Orphanet:398147	ordo_disease
MONDO:0018365	biolink:Disease	malignant non-epithelial tumor of ovary		UMLS:CN205032|Orphanet:398940	mondo.json	ovarian malignant non-epithelial tumor|ovarian non-epithelial cancer|non-epithelial cancer of ovary	http://purl.obolibrary.org/obo/MONDO_0018365	UMLS:CN205032|Orphanet:398940	disease_grouping|ordo_group_of_disorders
MONDO:0018364	biolink:Disease	malignant epithelial tumor of ovary	An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor.	MESH:C538090|DOID:2151|SCTID:254849005|NCIT:C40026|Orphanet:398934|GARD:0009362	mondo.json	ovarian stromal cancer|ovarian epithelial tumor, malignant|epithelial cancer of ovary|ovarian epithelial cancer|ovarian malignant epithelial tumor|malignant ovarian surface epithelial-stromal neoplasm|malignant ovarian epithelial tumor|malignant ovarian surface epithelial-stromal tumor	http://purl.obolibrary.org/obo/MONDO_0018364	DOID:2151|Orphanet:398934|NCIT:C40026|http://identifiers.org/snomedct/254849005|http://identifiers.org/mesh/C538090	ordo_group_of_disorders|disease_grouping
MONDO:0018350	biolink:Disease	obsolete malignant tumor of penis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018350		
HGNC:21653	biolink:NamedThing	TOPORS			mondo.json		http://identifiers.org/hgnc/21653		
HGNC:21652	biolink:NamedThing	OSTM1			mondo.json		http://identifiers.org/hgnc/21652		
MONDO:0006389	biolink:Disease	prostate rhabdomyosarcoma	A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate.	DOID:3252|UMLS:C1335518|NCIT:C5522|EFO:1000498	mondo.json	prostate gland rhabdomyosarcoma|rhabdomyosarcoma of prostate|prostate rhabdomyosarcoma|rhabdomyosarcoma (disease) of prostate gland|prostate gland rhabdomyosarcoma (disease)|rhabdomyosarcoma of the prostate	http://purl.obolibrary.org/obo/MONDO_0006389	DOID:3252|NCIT:C5522|UMLS:C1335518	
MONDO:0006387	biolink:Disease	primary pulmonary diffuse large B-cell lymphoma	A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis.	UMLS:C1709666|NCIT:C45605|EFO:1000495	mondo.json	diffuse large B-cell lymphoma of lung|high grade MALT lymphoma of the lung|primary pulmonary diffuse large B-cell lymphoma|lung diffuse large B-cell lymphoma|pulmonary diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0006387	NCIT:C45605|UMLS:C1709666	
MONDO:0006388	biolink:Disease	prolactin-producing pituitary gland carcinoma	A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin.	NCIT:C5962|EFO:1000497|UMLS:C1334614	mondo.json	malignant prolactin secreting tumor of the pituitary gland|malignant prolactin secreting tumor of pituitary gland|malignant prolactin producing tumor|malignant prolactin secreting tumor of the pituitary|malignant prolactin secreting tumor of pituitary|malignant prolactinoma of the pituitary gland|malignant prolactin producing pituitary neoplasm|malignant prolactinoma of pituitary gland|malignant prolactin secreting neoplasm of the pituitary gland|malignant prolactinoma of the pituitary|malignant prolactin producing pituitary gland neoplasm|malignant prolactin secreting neoplasm of pituitary gland|malignant prolactinoma of pituitary|malignant prolactin secreting pituitary gland tumor|malignant prolactin secreting neoplasm of the pituitary|malignant prolactinoma|malignant prolactin secreting neoplasm of pituitary|prolactin-producing pituitary gland carcinoma|malignant prolactin secreting pituitary tumor|PRL producing pituitary gland carcinoma|malignant prolactin secreting pituitary neoplasm|malignant prolactin producing neoplasm of the pituitary gland|malignant prolactin producing tumor of the pituitary gland|malignant prolactin producing tumor of pituitary gland|prolactin producing pituitary gland carcinoma|malignant pituitary prolactinoma|malignant prolactin producing neoplasm of pituitary gland|malignant prolactin secreting pituitary gland neoplasm|malignant prolactin producing pituitary gland tumor|malignant prolactin producing tumor of the pituitary|malignant prolactin producing neoplasm of the pituitary|malignant prolactin producing tumor of pituitary|malignant pituitary gland prolactinoma|malignant prolactin producing neoplasm of pituitary|malignant prolactin producing pituitary tumor	http://purl.obolibrary.org/obo/MONDO_0006388	NCIT:C5962|UMLS:C1334614	
MONDO:0006385	biolink:Disease	primary intraosseous squamous cell carcinoma	A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor.	EFO:1000492|NCIT:C54295|UMLS:C1709663	mondo.json	PIOSCC	http://purl.obolibrary.org/obo/MONDO_0006385	NCIT:C54295|UMLS:C1709663	
MONDO:0043330	biolink:Disease	Mirizzi syndrome	Complication of cholelithiasis characterized by obstructive jaundice; abdominal pain, and fever.	Orphanet:521219|EFO:1001860|MESH:D057792|GARD:0010177|SCTID:4283007|UMLS:C0267878	mondo.json	syndrome, Mirizzi's|Mirizzi's syndrome|hepatic duct dystonia syndrome|mirizzi's syndrome|Mirizzis syndrome|Mirizzi syndrome|syndrome, Mirizzi	http://purl.obolibrary.org/obo/MONDO_0043330	http://identifiers.org/mesh/D057792|UMLS:C0267878|http://identifiers.org/snomedct/4283007|Orphanet:521219	gard_rare|ordo_clinical_syndrome
MONDO:0006386	biolink:Disease	primary peritoneal serous adenocarcinoma	A rare, serous adenocarcinoma that diffusely involves the pelvic peritoneum seen predominantly in elderly postmenopausal women. Exclusion of serous carcinoma arising from the ovary and fimbrial end of fallopian tube is required to diagnose the above entity.	UMLS:C1514429|NCIT:C40023|EFO:1000494	mondo.json	primary peritoneal serous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006386	NCIT:C40023|UMLS:C1514429	
MONDO:0006383	biolink:Disease	primary cutaneous diffuse large B-cell lymphoma, Leg type	An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required.	EFO:1000490|UMLS:C1709656|NCIT:C45194|Orphanet:178544|ICDO:9680/3	mondo.json	primary cutaneous diffuse large B-cell lymphoma, Leg type|PCDLBCL,LT	http://purl.obolibrary.org/obo/MONDO_0006383	UMLS:C1709656|Orphanet:178544|NCIT:C45194	ordo_disease
MONDO:0006384	biolink:Disease	obsolete primary effusion lymphoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006384		
GO:0045806	biolink:NamedThing	negative regulation of endocytosis	Any process that stops, prevents, or reduces the frequency, rate or extent of endocytosis.		mondo.json	downregulation of endocytosis|inhibition of endocytosis|down-regulation of endocytosis|down regulation of endocytosis	http://purl.obolibrary.org/obo/GO_0045806		
MONDO:0006381	biolink:Disease	plexiform ameloblastoma	A histologic variant of solid/multicystic ameloblastoma characterized by the presence of basal cells forming anastomosing strands and cords in a delicate stroma.	NCIT:C39753|EFO:1000487|UMLS:C0457529	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006381	NCIT:C39753|UMLS:C0457529	
MONDO:0006382	biolink:Disease	poorly differentiated thyroid gland carcinoma	An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)	ICDO:8337/3|NCIT:C6040|EFO:1000489|ONCOTREE:THPD|UMLS:C1266050	mondo.json	insular carcinoma|poorly differentiated carcinoma of the thyroid gland|poorly differentiated carcinoma of thyroid gland|poorly differentiated thyroid gland carcinoma|thyroid gland poorly differentiated carcinoma|poorly differentiated thyroid cancer|poorly differentiated thyroid carcinoma|poorly differentiated thyroid gland cancer	http://purl.obolibrary.org/obo/MONDO_0006382	UMLS:C1266050|NCIT:C6040	
GO:0045807	biolink:NamedThing	positive regulation of endocytosis	Any process that activates or increases the frequency, rate or extent of endocytosis.		mondo.json	up-regulation of endocytosis|up regulation of endocytosis|activation of endocytosis|stimulation of endocytosis|upregulation of endocytosis	http://purl.obolibrary.org/obo/GO_0045807		
MONDO:0006380	biolink:Disease	pleural sarcomatoid mesothelioma	Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma.	NCIT:C45663|EFO:1000486|UMLS:C1709578	mondo.json	pleura sarcomatoid mesothelioma|pleural sarcomatoid mesothelioma|sarcomatoid mesothelioma of pleura	http://purl.obolibrary.org/obo/MONDO_0006380	UMLS:C1709578|NCIT:C45663	
MONDO:0043327	biolink:Disease	cerebrospinal fluid leak	Discharge of cerebrospinal fluid through a hole through the skull bone most commonly draining from the nose (CEREBROSPINAL FLUID RHINORRHEA) or the ear (CEREBROSPINAL FLUID OTORRHEA).	MESH:D065634|SCTID:230744007|GARD:0010166	mondo.json	Leaks, cerebrospinal fluid|fluid leakage, cerebrospinal|cerebrospinal fluid Drainages|fluid Drainages, cerebrospinal|cerebrospinal fluid leakage|cerebrospinal fluid leakage, post-traumatic|csf - cerebrospinal fluid leak|cerebrospinal fluid leakage, spontaneous|spinal CSF leak|leak, cerebrospinal fluid|fluid leak, cerebrospinal|fluid Leaks, cerebrospinal|cerebrospinal fluid leakage, post traumatic|CSF leak|cerebrospinal fluid leak, spontaneous|cerebrospinal fluid leakage, traumatic|cerebrospinal fluid Leakages|Leakages, cerebrospinal fluid|fluid drainage, cerebrospinal|drainage, cerebrospinal fluid|cerebrospinal fluid drainage|fluid Leakages, cerebrospinal|cerebrospinal fluid drainage, post-traumatic|CSF rhinorrhea|spinal cerebrospinal fluid leak|spinal cerebrospinal fluid leak, post-traumatic|spinal cerebrospinal fluid leak, spontaneous|cerebrospinal fluid leak|cerebrospinal fluid drainage, spontaneous|cerebrospinal fluid drainage, post traumatic|cerebrospinal fluid leak, traumatic|cerebrospinal fluid leak, post-traumatic|cerebrospinal fluid Leaks|leakage, cerebrospinal fluid|Drainages, cerebrospinal fluid|spinal cerebrospinal fluid leak, post traumatic|spinal cerebrospinal fluid leak, traumatic|CSF otorrhea|cerebrospinal fluid leak, post traumatic|cerebrospinal fluid drainage, traumatic	http://purl.obolibrary.org/obo/MONDO_0043327	http://identifiers.org/snomedct/230744007|http://identifiers.org/mesh/D065634	gard_rare
MONDO:0018359	biolink:Disease	neonatal dermatomyositis		Orphanet:398117	mondo.json	neonatal DM	http://purl.obolibrary.org/obo/MONDO_0018359	Orphanet:398117	ordo_disease
MONDO:0018356	biolink:Disease	secondary neonatal autoimmune disease		UMLS:CN226097|Orphanet:398091	mondo.json	Transplacentally acquired neonatal autoimmune disease	http://purl.obolibrary.org/obo/MONDO_0018356	Orphanet:398091|UMLS:CN226097	ordo_group_of_disorders|disease_grouping
MONDO:0018355	biolink:Disease	SIM1-related Prader-Willi-like syndrome		Orphanet:398079|UMLS:CN226095	mondo.json	SIM1-related PWLS|Prader-Willi-like syndrome due to a point mutation|PWS-like due to point mutation|PWS-like due to a point mutation	http://purl.obolibrary.org/obo/MONDO_0018355	Orphanet:398079|UMLS:CN226095	ordo_clinical_subtype
MONDO:0018358	biolink:Disease	neonatal autoimmune hemolytic anemia		Orphanet:398109	mondo.json	neonatal AHA|neonatal AIHA	http://purl.obolibrary.org/obo/MONDO_0018358	Orphanet:398109	ordo_disease
MONDO:0018357	biolink:Disease	neonatal antiphospholipid syndrome		UMLS:CN226098|Orphanet:398097	mondo.json	neonatal antiphospholipid antibody syndrome|neonatal Hughes syndrome	http://purl.obolibrary.org/obo/MONDO_0018357	Orphanet:398097|UMLS:CN226098	ordo_disease
MONDO:0018352	biolink:Disease	squamous cell carcinoma of penis	A squamous cell carcinoma arising from the penis. It occurs chiefly in the squamous epithelium of the glans, coronal sulcus, and foreskin. Etiologic factors include phimosis, lichen sclerosus, smoking, ultraviolet irradiation, history of warts or condylomas, and lack of circumcision. Human papilloma virus is present in a subset of penile squamous cell carcinomas. Patients may present with an exophytic or flat ulcerative mass in the glans or a large primary tumor with inguinal nodal and skin metastases. Morphologic variants include the basaloid carcinoma, warty (condylomatous) carcinoma, verrucous carcinoma, and sarcomatoid (spindle cell) carcinoma. (WHO, 2004)	Orphanet:398058|SCTID:403468003|ONCOTREE:PSCC|UMLS:C0238348|DOID:5518|NCIT:C7729	mondo.json	epidermoid carcinoma of the penis|epidermoid carcinoma of penis|penile squamous car.(epidermoid)|epidermoid cell carcinoma of the penis|penile epidermoid cell carcinoma|PSCC|squamous cell carcinoma of penis|penile epidermoid carcinoma|penile squamous cell carcinoma|squamous cell carcinoma of the penis|penile squamous carcinoma (epidermoid)|penis squamous cell carcinoma|penile squamous cell cancer|epidermoid cell carcinoma of penis	http://purl.obolibrary.org/obo/MONDO_0018352	NCIT:C7729|http://identifiers.org/snomedct/403468003|UMLS:C0238348|DOID:5518|Orphanet:398058	ordo_disease
MONDO:0018351	biolink:Disease	adenocarcinoma of penis	A adenocarcinoma that involves the penis.	Orphanet:398053	mondo.json	adenocarcinoma of the penis|penis adenocarcinoma|penile adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0018351	Orphanet:398053	ordo_disease|obsoletion_candidate
MONDO:0018354	biolink:Disease	Prader-Willi-like syndrome	Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities.	Orphanet:398073|UMLS:CN226094	mondo.json	PWS-like	http://purl.obolibrary.org/obo/MONDO_0018354	Orphanet:398073|UMLS:CN226094	ordo_disease
MONDO:0018353	biolink:Disease	refractory celiac disease	Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia.	Orphanet:398063|EFO:0009266|ICD10CM:K90.0|UMLS:CN226092	mondo.json	intractable celiac sprue|refractory sprue|type I refractory sprue|type II refractory sprue|refractory CD	http://purl.obolibrary.org/obo/MONDO_0018353	Orphanet:398063|UMLS:CN226092	ordo_disease
MONDO:0021994	biolink:Disease	Berk-Tabatznik syndrome		GARD:0005109|UMLS:C2930899|MESH:C535432	mondo.json	kyphosis brachyphalangy optic atrophy|Berk Tabatznik syndrome|cleft nare, brachydactyly, short stature-dwarfism|congenital optic atrophy and brachytelephalangy|cleft nare, brachydactyly, short stature dwarfism|short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges	http://purl.obolibrary.org/obo/MONDO_0021994	UMLS:C2930899|http://identifiers.org/mesh/C535432	gard_rare
MONDO:0006358	biolink:Disease	parotid gland squamous cell carcinoma	An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain.	EFO:1000463|NCIT:C5942|UMLS:C1335367	mondo.json	parotid squamous cell carcinoma|parotid gland squamous cell carcinoma|squamous cell carcinoma of the parotid gland|squamous cell carcinoma of parotid gland|squamous cell carcinoma of the parotid|squamous cell carcinoma of parotid	http://purl.obolibrary.org/obo/MONDO_0006358	NCIT:C5942|UMLS:C1335367	
MONDO:0006359	biolink:Disease	neoplasm with perivascular epithelioid cell differentiation	A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis.	EFO:1000464|ONCOTREE:PECOMA|NCIT:C38150|Orphanet:595133|MESH:D054973|DOID:2643|UMLS:C1300127	mondo.json	PEComa|neoplasm with perivascular epithelioid cell differentiation|tumor with perivascular epithelioid cell differentiation|perivascular epithelioid cell tumor	http://purl.obolibrary.org/obo/MONDO_0006359	UMLS:C1300127|http://identifiers.org/mesh/D054973|Orphanet:595133|DOID:2643|NCIT:C38150	ordo_disease
MONDO:0006356	biolink:Disease	parotid gland adenoid cystic carcinoma	An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.	SCTID:423615009|DOID:0050931|UMLS:C1335355|NCIT:C5937|EFO:1000459	mondo.json	parotid gland adenoid cystic carcinoma|parotid adenoid cystic carcinoma|adenoid cystic carcinoma of the parotid gland|adenoid cystic carcinoma of parotid gland|adenoid cystic carcinoma of the parotid|adenoid cystic carcinoma of parotid	http://purl.obolibrary.org/obo/MONDO_0006356	DOID:0050931|UMLS:C1335355|NCIT:C5937|http://identifiers.org/snomedct/423615009	
MONDO:0006357	biolink:Disease	parotid gland carcinoma ex pleomorphic adenoma	A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.	EFO:1000461|NCIT:C5974|UMLS:C1335356|SCTID:425127006	mondo.json	parotid gland carcinoma ex pleomorphic adenoma|parotid carcinoma ex pleomorphic adenoma|carcinoma ex pleomorphic adenoma of the parotid gland|carcinoma ex pleomorphic adenoma of parotid gland|carcinoma ex pleomorphic adenoma of the parotid|carcinoma ex pleomorphic adenoma of parotid	http://purl.obolibrary.org/obo/MONDO_0006357	http://identifiers.org/snomedct/425127006|UMLS:C1335356|NCIT:C5974	
MONDO:0006354	biolink:Disease	parathyroid hyperplasia	A hyperplasia that involves the parathyroid gland.	UMLS:C0271844|HP:0008208|NCIT:C3989|EFO:1000457|SCTID:9092004	mondo.json	parathyroid hyperplasia (disease)|hyperplasia of the parathyroid|parathyroid gland hyperplasia|hyperplasia of parathyroid|parathyroid hyperplasia	http://purl.obolibrary.org/obo/MONDO_0006354	UMLS:C0271844|http://identifiers.org/snomedct/9092004|NCIT:C3989	
CHEBI:83876	biolink:ChemicalSubstance	cationic sphingoid	An organic cation obtained by protonation of the amino function of any sphingoid		mondo.json	cationic sphingoids|sphingoid cations|sphingoid cation	http://purl.obolibrary.org/obo/CHEBI_83876		
MONDO:0006355	biolink:Disease	parotid gland acinic cell carcinoma	An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area.	UMLS:C1335353|EFO:1000458|NCIT:C5933	mondo.json	parotid acinic cell carcinoma|parotid gland acinar cell carcinoma|acinic cell carcinoma of the parotid gland|acinic cell carcinoma of parotid gland|acinic cell carcinoma of the parotid|parotid gland acinic cell carcinoma|acinic cell carcinoma of parotid	http://purl.obolibrary.org/obo/MONDO_0006355	UMLS:C1335353|NCIT:C5933	
MONDO:0043346	biolink:Disease	progressive transformation of germinal centers	Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. Theneck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits. adults are more frequently affected than children, but children have a higher chance of developing PTGC multiple times (recurrence). PTGC is not considered a precancerous condition, though it has been associated with Hodgkin lymphoma.	GARD:0010712|MESH:C548085|NCIT:C38408	mondo.json	progressive transformation of Germinal centers|PTGC	http://purl.obolibrary.org/obo/MONDO_0043346	http://identifiers.org/mesh/C548085|NCIT:C38408	gard_rare
MONDO:0006352	biolink:Disease	paranasal sinus adenoid cystic carcinoma	A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases.	UMLS:C1335337|NCIT:C6019|EFO:1000454	mondo.json	accessory sinus adenoid cystic carcinoma|paranasal sinus adenoid cystic carcinoma|adenoid cystic carcinoma of the paranasal sinus|adenoid cystic carcinoma of paranasal sinus|adenoid cystic carcinoma of the accessory sinus|adenoid cystic carcinoma of accessory sinus	http://purl.obolibrary.org/obo/MONDO_0006352	NCIT:C6019|UMLS:C1335337	
MONDO:0006353	biolink:Disease	paranasal sinus Schneiderian papilloma	A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma.	NCIT:C6835|EFO:1000455|UMLS:C1335343	mondo.json	Schneiderian papilloma of the paranasal sinus|Schneiderian papilloma of paranasal sinus|accessory sinus Schneiderian papilloma|paranasal sinus Schneiderian papilloma|Schneiderian papilloma of the accessory sinus|Schneiderian papilloma of accessory sinus	http://purl.obolibrary.org/obo/MONDO_0006353	NCIT:C6835|UMLS:C1335343	
MONDO:0043343	biolink:Disease	Chilaiditi syndrome	Interposition of a portion of the colon (e.g., sigmoid colon) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition.	SCTID:14911005|MESH:D059269|GARD:0010685	mondo.json	syndrome, Chilaiditi|anomaly, Chilaiditi's|Chilaiditi anomaly|Chilaiditis anomaly|Chilaiditi's syndrome|syndrome, Chilaiditi's|subphrenic interposition syndrome|Chilaiditi's anomaly|Chilaiditis syndrome|anomaly, Chilaiditi|hepatodiaphragmatic colonic interposition|chilaiditi's syndrome	http://purl.obolibrary.org/obo/MONDO_0043343	http://identifiers.org/snomedct/14911005|http://identifiers.org/mesh/D059269	gard_rare
MONDO:0006350	biolink:Disease	papillary transitional cell carcinoma	A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis.	EFO:1000450|UMLS:C0334274|DOID:4012|ICDO:8130/3|NCIT:C4122	mondo.json	papillary transitional carcinoma|papillary transitional cell carcinoma|papillary transitional cell carcinoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0006350	NCIT:C4122|UMLS:C0334274|DOID:4012	
MONDO:0006351	biolink:Disease	parachordoma	A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities.	EFO:1000452|ICDO:9373/1|ICDO:9373/0|UMLS:C1266175|NCIT:C6581|DOID:2647|SCTID:404086000	mondo.json	parachordoma	http://purl.obolibrary.org/obo/MONDO_0006351	DOID:2647|NCIT:C6581|UMLS:C1266175|http://identifiers.org/snomedct/404086000	
GO:0045818	biolink:NamedThing	negative regulation of glycogen catabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of glycogen.		mondo.json	downregulation of glycogen catabolic process|negative regulation of glycogen catabolism|negative regulation of glycogenolysis|negative regulation of glycogen breakdown|down regulation of glycogen catabolic process|inhibition of glycogen catabolic process|down-regulation of glycogen catabolic process|negative regulation of glycogen degradation	http://purl.obolibrary.org/obo/GO_0045818		
MONDO:0018349	biolink:Disease	MAN1B1-congenital disorder of glycosylation	MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).	Orphanet:397941|SCTID:733450008|UMLS:C4518783|GARD:0012417	mondo.json	congenital disorder of glycosylation type II due to MAN1B1 deficiency|congenital disorder of glycosylation type 2 due to MAN1B1 deficiency|MAN1B1-CDG|carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency|MAN1B1-congenital disorder of glycosylation|intellectual disability-truncal obesity syndrome	http://purl.obolibrary.org/obo/MONDO_0018349	http://identifiers.org/snomedct/733450008|Orphanet:397941|UMLS:C4518783	ordo_disease|gard_rare
MONDO:0018348	biolink:Disease	obsolete polyglucosan body myopathy type 1			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018348		
NCBITaxon:114292	biolink:OrganismalEntity	typhus group		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_114292		
MONDO:0043339	biolink:Disease	lathyrism	A paralytic condition of the legs caused by ingestion of lathyrogens, especially beta-aminopropionitrile or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus lathyrus.	EFO:1001776|MESH:D007842|SCTID:5724005|GARD:0010441	mondo.json	Lathyrus species poisoning|vetchling poisoning|lathyrism|Neurolathyrism	http://purl.obolibrary.org/obo/MONDO_0043339	http://identifiers.org/snomedct/5724005|http://identifiers.org/mesh/D007842	gard_rare
MONDO:0018345	biolink:Disease	obsolete T+ B+ severe combined immunodeficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018345		
MONDO:0018344	biolink:Disease	periodic paralysis with transient compartment-like syndrome		UMLS:CN226077|Orphanet:397755	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018344	Orphanet:397755|UMLS:CN226077	ordo_disease
MONDO:0018347	biolink:Disease	severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome		Orphanet:397933|UMLS:CN226082	mondo.json	severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome|IQSEC2-related syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0018347	Orphanet:397933|UMLS:CN226082	ordo_disease
MONDO:0018346	biolink:Disease	ferro-cerebro-cutaneous syndrome		UMLS:CN226080|OMIM:301072|Orphanet:397922	mondo.json	cerebro-cutaneous syndrome with iron overload|FCCS	http://purl.obolibrary.org/obo/MONDO_0018346	https://omim.org/entry/301072|Orphanet:397922|UMLS:CN226080	ordo_disease
MONDO:0018341	biolink:Disease	3q27.3 microdeletion syndrome	A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.	Orphanet:397695|UMLS:CN225942	mondo.json	Del(3)(q27.3)	http://purl.obolibrary.org/obo/MONDO_0018341	UMLS:CN225942|Orphanet:397695	ordo_disease
MONDO:0018340	biolink:Disease	hereditary isolated aplastic anemia		Orphanet:397692	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018340	Orphanet:397692	ordo_disease
GO:0045819	biolink:NamedThing	positive regulation of glycogen catabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of glycogen.		mondo.json	up-regulation of glycogen catabolic process|activation of glycogen catabolic process|positive regulation of glycogen degradation|upregulation of glycogen catabolic process|positive regulation of glycogen breakdown|positive regulation of glycogenolysis|positive regulation of glycogen catabolism|stimulation of glycogen catabolic process|up regulation of glycogen catabolic process	http://purl.obolibrary.org/obo/GO_0045819		
MONDO:0018343	biolink:Disease	periodic paralysis with later-onset distal motor neuropathy		Orphanet:397750	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018343	Orphanet:397750	ordo_disease
MONDO:0018342	biolink:Disease	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.	SCTID:733418003|UMLS:C4518774|Orphanet:397715|UMLS:CN225944	mondo.json	JBTS with JATD|Joubert syndrome with JATD	http://purl.obolibrary.org/obo/MONDO_0018342	UMLS:CN225944|Orphanet:397715|http://identifiers.org/snomedct/733418003|UMLS:C4518774	ordo_malformation_syndrome
MONDO:0810000	biolink:Disease	choroidal neovascularization	An eye disorder described by the growth of new blood vessels that originate from the choroid through a break in the Bruch membrane into the sub–retinal pigment epithelium (sub-RPE) or subretinal space. Choroidal neovascularization (CNV) is a major cause of visual loss.	HP:0011506	mondo.json		http://purl.obolibrary.org/obo/MONDO_0810000		
MONDO:0006369	biolink:Disease	pineal parenchymal tumor of intermediate differentiation	A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)	SCTID:715904005|GARD:0010644|EFO:1000474|UMLS:C1367859|ONCOTREE:PPTID|DOID:5030|NCIT:C6967	mondo.json	pineal parenchymal tumor of intermediate differentiation|pineal parenchymal tumor of intermediate differentiation (morphologic abnormality)|pineal parenchymal tumors of intermediate differentiation|PPTID|pineal parenchymal tumour of intermediate differentiation	http://purl.obolibrary.org/obo/MONDO_0006369	UMLS:C1367859|http://identifiers.org/snomedct/715904005|NCIT:C6967|DOID:5030	
GO:0045820	biolink:NamedThing	negative regulation of glycolytic process	Any process that stops, prevents, or reduces the frequency, rate or extent of glycolysis.		mondo.json	downregulation of glycolysis|down regulation of glycolysis|inhibition of glycolysis|down-regulation of glycolysis	http://purl.obolibrary.org/obo/GO_0045820		
MONDO:0006367	biolink:Disease	pharyngeal adenoid cystic carcinoma	An adenoid cystic carcinoma that arises from the pharynx.	EFO:1000472|UMLS:C1335399|NCIT:C5818	mondo.json	adenoid cystic carcinoma of the pharynx|adenoid cystic carcinoma of pharynx|pharyngeal adenoid cystic carcinoma|pharyngeal throat adenoid cystic cancer|pharynx adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0006367	UMLS:C1335399|NCIT:C5818	
MONDO:0043355	biolink:Disease	collagenous gastritis	A rare type of gastritis characterized by gastric subepithelial collagen deposition and inflammatory infiltrates in the lamina propria. The pathogenesis of this disorder is unclear although an association with autoimmune disorders has been reported. It affects both children and adults. Children present with iron deficiency anemia and have a nodular stomach on gastroscopy. adults present with chronic watery diarrhea and may have an associated collagenous colitis.	GARD:0010961|NCIT:C122082|SCTID:711499009|UMLS:C4040043	mondo.json	collagenous gastritis	http://purl.obolibrary.org/obo/MONDO_0043355	http://identifiers.org/snomedct/711499009|UMLS:C4040043|NCIT:C122082	gard_rare
GO:0045821	biolink:NamedThing	positive regulation of glycolytic process	Any process that activates or increases the frequency, rate or extent of glycolysis.		mondo.json	up regulation of glycolysis|stimulation of glycolysis|up-regulation of glycolysis|activation of glycolysis|upregulation of glycolysis	http://purl.obolibrary.org/obo/GO_0045821		
MONDO:0006368	biolink:Disease	phosphaturic mesenchymal tumor	An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor.	EFO:1000473|UMLS:C1831619|NCIT:C67237	mondo.json	phosphaturic mesenchymal tumor, mixed connective tissue variant|phosphaturic mesenchymal tumor|phosphaturic mesenchymal tumor, mixed connective tissue type	http://purl.obolibrary.org/obo/MONDO_0006368	UMLS:C1831619|NCIT:C67237	
MONDO:0043358	biolink:Disease	engraftment syndrome	A toxicity of hematopoietic stem cell transplantation that manifests as fever, rash and pulmonary deterioration which becomes evident at marrow engraftment. It occurs unexpectedly and is occasionally fatal. It can occur after an autogeneic or an allogeneic hematopoietic cell transplantation.	SCTID:426768001|GARD:0011909|UMLS:C0919746|NCIT:C63324	mondo.json	engraftment syndrome	http://purl.obolibrary.org/obo/MONDO_0043358	UMLS:C0919746|NCIT:C63324|http://identifiers.org/snomedct/426768001	gard_rare
MONDO:0006365	biolink:Disease	Peutz-Jeghers polyp	A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002	EFO:1000470|NCIT:C4733	mondo.json	Peutz-Jeghers polyp|Peutz Jeghers polyp	http://purl.obolibrary.org/obo/MONDO_0006365	NCIT:C4733	
MONDO:0006366	biolink:Disease	Peutz-Jeghers polyp of the stomach	A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium.	EFO:1000471|NCIT:C36205|UMLS:C1335398	mondo.json	Gastric Peutz-Jeghers polyp	http://purl.obolibrary.org/obo/MONDO_0006366	UMLS:C1335398|NCIT:C36205	
MONDO:0043352	biolink:Disease	fournier gangrene	An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease.	SCTID:398318005|GARD:0010912|UMLS:C0238419|MESH:D018934	mondo.json	fournier's gangrene|gangrene, Fournier|fournier gangrene|gangrene, Fournier's|Fournier disease|Fournier's gangrene|Fourniers gangrene|Fournier's disease|Fourniers disease	http://purl.obolibrary.org/obo/MONDO_0043352	http://identifiers.org/snomedct/398318005|http://identifiers.org/mesh/D018934|UMLS:C0238419	gard_rare
MONDO:0006363	biolink:Disease	peritoneal multicystic mesothelioma	A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare.	NCIT:C6536|SCTID:716650003|Orphanet:168816|EFO:1000468|GARD:0010777|UMLS:C1334818	mondo.json	benign cystic peritoneal mesothelioma|peritoneal multicystic mesothelioma|peritoneal cystic mesothelioma|multilocular peritoneal inclusion cyst|multilocular peritoneal cysts|BMPM|multilocular peritoneal inclusion cysts|multicystic mesothelioma of peritoneum|multicystic mesothelioma|benign multicystic peritoneal mesothelioma|multicystic mesothelioma of the peritoneum	http://purl.obolibrary.org/obo/MONDO_0006363	http://identifiers.org/snomedct/716650003|NCIT:C6536|Orphanet:168816|UMLS:C1334818	ordo_disease
MONDO:0006364	biolink:Disease	peritoneal well differentiated papillary mesothelioma	A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma.	NCIT:C45661|UMLS:C1709507|EFO:1000469	mondo.json	peritoneal WDPM|peritoneal well differentiated papillary mesothelioma	http://purl.obolibrary.org/obo/MONDO_0006364	NCIT:C45661|UMLS:C1709507	
MONDO:0006361	biolink:Disease	penile fibromatosis	Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect.	UMLS:C0030848|EFO:1000466|NCIT:C3316	mondo.json	penile fibromatosis|penile induration|penis fibromatosis|Peyronie's fibromatosis|Peyronie's disease	http://purl.obolibrary.org/obo/MONDO_0006361	NCIT:C3316	
MONDO:0006362	biolink:Disease	peritoneal mesothelioma	A benign or malignant mesothelial neoplasm that arises from the peritoneum.	NCIT:C7633|HP:0100003|ONCOTREE:PEMESO|EFO:1000467|SCTID:109853004	mondo.json	peritoneal mesothelioma|peritoneal mesothelioma (disease)|peritoneum mesothelioma|mesothelioma of peritoneum|mesothelioma of the peritoneum	http://purl.obolibrary.org/obo/MONDO_0006362	http://identifiers.org/snomedct/109853004|NCIT:C7633	
GO:0045828	biolink:NamedThing	positive regulation of isoprenoid metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving isoprenoid.		mondo.json	upregulation of isoprenoid metabolic process|up regulation of isoprenoid metabolic process|positive regulation of isoprenoid metabolism|stimulation of isoprenoid metabolic process|up-regulation of isoprenoid metabolic process|activation of isoprenoid metabolic process	http://purl.obolibrary.org/obo/GO_0045828		
MONDO:0006360	biolink:Disease	penile carcinoma	A carcinoma that arises from epithelial cells of the penis	DOID:3449|NCIT:C9061|GARD:0009366|SCTID:372106005|EFO:1000465	mondo.json	cancer penis|penile cancer, adult|cancer of the penis|cancer of penis|penis carcinoma|penile cancer|carcinoma of the penis|penile carcinoma|carcinoma of penis	http://purl.obolibrary.org/obo/MONDO_0006360	DOID:3449|NCIT:C9061|http://identifiers.org/snomedct/372106005	
GO:0045829	biolink:NamedThing	negative regulation of isotype switching	Any process that stops, prevents, or reduces the frequency, rate or extent of isotype switching.		mondo.json	negative regulation of isotype switch recombination|down-regulation of isotype switching|down regulation of isotype switching|inhibition of isotype switching|downregulation of isotype switching|negative regulation of class switching|negative regulation of class switch recombination	http://purl.obolibrary.org/obo/GO_0045829		
GO:0045827	biolink:NamedThing	negative regulation of isoprenoid metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving isoprenoid.		mondo.json	down regulation of isoprenoid metabolic process|inhibition of isoprenoid metabolic process|down-regulation of isoprenoid metabolic process|downregulation of isoprenoid metabolic process|negative regulation of isoprenoid metabolism	http://purl.obolibrary.org/obo/GO_0045827		
MONDO:0018338	biolink:Disease	activated PI3K-delta syndrome		GARD:0011983|MESH:C585640|UMLS:C3714976|Orphanet:397596|SCTID:711480000|ICD9:279.8	mondo.json	senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation|APDS	http://purl.obolibrary.org/obo/MONDO_0018338	http://identifiers.org/mesh/C585640|UMLS:C3714976|http://identifiers.org/snomedct/711480000|Orphanet:397596	ordo_disease
MONDO:0043349	biolink:Disease	intravascular papillary endothelial hyperplasia	A reactive, well-circumscribed vascular lesion. It is characterized by the formation of thin papillae projecting within the lumen of blood vessels. The papillae are lined by plump endothelial cells. Blood clots are also present.	GARD:0010733|SCTID:238770007|UMLS:C0343083|NCIT:C4391	mondo.json	intravascular papillary endothelial hyperplasia|Masson's pseudosarcoma|papillary endothelial hyperplasia|Masson pseudotumor|Masson's pseudoangiosarcoma|Masson's vegetant hemangioma|Masson's pseudotumor|Masson's tumor|masson's pseudosarcoma|Masson lesion|Masson's vegetant intravascular hemangio-endothelioma	http://purl.obolibrary.org/obo/MONDO_0043349	NCIT:C4391|UMLS:C0343083|http://identifiers.org/snomedct/238770007	gard_rare
GO:0045824	biolink:NamedThing	negative regulation of innate immune response	Any process that stops, prevents, or reduces the frequency, rate or extent of the innate immune response.		mondo.json	downregulation of innate immune response|down regulation of innate immune response|inhibition of innate immune response|down-regulation of innate immune response	http://purl.obolibrary.org/obo/GO_0045824		
MONDO:0018337	biolink:Disease	severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency		Orphanet:397593	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018337	Orphanet:397593	ordo_disease
GO:0045822	biolink:NamedThing	negative regulation of heart contraction	Any process that stops, prevents, or reduces the frequency, rate or extent of heart contraction.		mondo.json	down regulation of heart contraction|inhibition of heart contraction|downregulation of heart contraction|down-regulation of heart contraction|negative regulation of cardiac contraction	http://purl.obolibrary.org/obo/GO_0045822		
GO:0045823	biolink:NamedThing	positive regulation of heart contraction	Any process that activates or increases the frequency, rate or extent of heart contraction.		mondo.json	upregulation of heart contraction|up-regulation of heart contraction|positive regulation of cardiac contraction|up regulation of heart contraction|activation of heart contraction|stimulation of heart contraction	http://purl.obolibrary.org/obo/GO_0045823		
MONDO:0018339	biolink:Disease	PrP systemic amyloidosis	Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid.	UMLS:C4518776|SCTID:733422008|Orphanet:397606	mondo.json	prion protein systemic amyloidosis|chronic diarrhea with hereditary sensory and autonomic neuropathy|chronic diarrhea with HSAN	http://purl.obolibrary.org/obo/MONDO_0018339	UMLS:C4518776|http://identifiers.org/snomedct/733422008|Orphanet:397606	ordo_disease
MONDO:0018334	biolink:Disease	chronic hiccup	Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.	UMLS:C0744898|GARD:0006657|HP:0100247|SCTID:716771000|Orphanet:396|UMLS:CN205022	mondo.json	intractable singultus|intractable hiccups|Hiccups, intractable|persistent hiccups|chronic hiccups	http://purl.obolibrary.org/obo/MONDO_0018334	Orphanet:396|http://identifiers.org/snomedct/716771000|UMLS:CN205022|UMLS:C0744898	ordo_disease|gard_rare
MONDO:0018333	biolink:Disease	multiple acyl-CoA dehydrogenase deficiency, mild type		Orphanet:394532|UMLS:CN205005	mondo.json	MAD deficiency, mild type|glutaric aciduria type 2, mild type|MADD, mild type	http://purl.obolibrary.org/obo/MONDO_0018333	UMLS:CN205005|Orphanet:394532	ordo_clinical_subtype
MONDO:0031376	biolink:Disease	congenital disorder of deglycosylation		OMIMPS:615273	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031376	https://omim.org/phenotypicSeries/PS615273	
MONDO:0018336	biolink:Disease	obsolete Silver-Russell syndrome due to a point mutation		Orphanet:397590|UMLS:CN225933	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018336	UMLS:CN225933|Orphanet:397590	ordo_etiological_subtype
MONDO:0021977	biolink:Disease	basaloid follicular hamartoma	A type of pilosebaceous hamartoma characterized by basal cell epitheliomata, epidermoid cysts and comedones, and epidermal atrophy.	GARD:0002354|ICD9:706.1|NCIT:C4749|UMLS:C0474964|SCTID:254705003	mondo.json	basaloid follicular hamartoma|basal cell nevus with comedones	http://purl.obolibrary.org/obo/MONDO_0021977	UMLS:C0474964|http://identifiers.org/snomedct/254705003|NCIT:C4749	gard_rare
MONDO:0018335	biolink:Disease	obsolete deep dermatophytosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018335		
MONDO:0021979	biolink:Disease	Basaran Yilmaz syndrome	A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region.	UMLS:C2931577|MESH:C537660|GARD:0000833	mondo.json	keratoderma, hypotrichosis and leukonychia totalis	http://purl.obolibrary.org/obo/MONDO_0021979	http://identifiers.org/mesh/C537660|UMLS:C2931577	gard_rare
MONDO:0018330	biolink:Disease	mucinous adenocarcinoma of the appendix	Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present.	NCIT:C43558|ONCOTREE:MAAP|Orphanet:391723|UMLS:C1706832	mondo.json	appendiceal mucinous adenocarcinoma|appendix mucinous adenocarcinoma|vermiform appendix mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0018330	Orphanet:391723|UMLS:C1706832|NCIT:C43558	ordo_disease
MONDO:0018332	biolink:Disease	multiple acyl-CoA dehydrogenase deficiency, severe neonatal type		UMLS:CN205004|Orphanet:394529	mondo.json	MADD, severe neonatal type|MAD deficiency, severe neonatal type|glutaric aciduria type 2, severe neonatal type	http://purl.obolibrary.org/obo/MONDO_0018332	UMLS:CN205004|Orphanet:394529	ordo_clinical_subtype
MONDO:0018331	biolink:Disease	obsolete rare genetic dystonia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018331		
FOODON:03412345	biolink:NamedThing	lichen	A composite organism that arises from algae or cyanobacteria living among filaments of multiple fungi species in a mutualistic relationship.		mondo.json		http://purl.obolibrary.org/obo/FOODON_03412345		
UBERON:0039168	biolink:AnatomicalEntity	colic lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0039168		
MONDO:0033954	biolink:Disease	monoclonal mast cell activation syndrome		Orphanet:529468	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033954	Orphanet:529468	ordo_disease
FOODON:03400361	biolink:NamedThing	agency food product type	An agency food product type is a class of food product defined by an agency or consortium.	http://www.langual.org/langual_thesaurus.asp?termid=A0361	mondo.json		http://purl.obolibrary.org/obo/FOODON_03400361		
GO:0045830	biolink:NamedThing	positive regulation of isotype switching	Any process that activates or increases the frequency, rate or extent of isotype switching.		mondo.json	positive regulation of isotype switch recombination|up-regulation of isotype switching|up regulation of isotype switching|activation of isotype switching|positive regulation of class switch recombination|stimulation of isotype switching|upregulation of isotype switching|positive regulation of class switching	http://purl.obolibrary.org/obo/GO_0045830		
GO:0045839	biolink:NamedThing	negative regulation of mitotic nuclear division	Any process that stops, prevents or reduces the rate or extent of mitosis. Mitosis is the division of the eukaryotic cell nucleus to produce two daughter nuclei that, usually, contain the identical chromosome complement to their mother.		mondo.json	negative regulation of mitosis|down-regulation of mitosis|down regulation of mitosis|inhibition of mitosis|downregulation of mitosis	http://purl.obolibrary.org/obo/GO_0045839		
NCBITaxon:114277	biolink:OrganismalEntity	spotted fever group		GC_ID:11|PMID:9734038	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_114277		
GO:0045835	biolink:NamedThing	negative regulation of meiotic nuclear division	Any process that stops, prevents, or reduces the frequency, rate or extent of meiosis.		mondo.json	inhibition of meiosis|downregulation of meiosis|negative regulation of meiosis|down-regulation of meiosis|down regulation of meiosis	http://purl.obolibrary.org/obo/GO_0045835		
GO:0045836	biolink:NamedThing	positive regulation of meiotic nuclear division	Any process that activates or increases the frequency, rate or extent of meiosis.		mondo.json	up-regulation of meiosis|up regulation of meiosis|activation of meiosis|positive regulation of meiosis|stimulation of meiosis|upregulation of meiosis	http://purl.obolibrary.org/obo/GO_0045836		
GO:0045833	biolink:NamedThing	negative regulation of lipid metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving lipids.		mondo.json	downregulation of lipid metabolic process|inhibition of lipid metabolic process|negative regulation of lipid metabolism|down-regulation of lipid metabolic process|down regulation of lipid metabolic process	http://purl.obolibrary.org/obo/GO_0045833		
GO:0045834	biolink:NamedThing	positive regulation of lipid metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving lipids.		mondo.json	up-regulation of lipid metabolic process|up regulation of lipid metabolic process|activation of lipid metabolic process|positive regulation of lipid metabolism|stimulation of lipid metabolic process|upregulation of lipid metabolic process	http://purl.obolibrary.org/obo/GO_0045834		
CHR:9606-chr11q24	biolink:NamedThing	11q24 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr11q24		
GO:0031268	biolink:NamedThing	pseudopodium organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a pseudopodium, a temporary protrusion or retractile process of a cell, associated with cellular movement.		mondo.json	pseudopodium organisation|pseudopodium organization and biogenesis	http://purl.obolibrary.org/obo/GO_0031268		
MONDO:0018392	biolink:Disease	obsolete male infertility with spermatogenesis disorder due to single gene mutation		GARD:0012513|Orphanet:399786|UMLS:CN227340	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018392	UMLS:CN227340|Orphanet:399786	ordo_group_of_disorders|gard_rare
MONDO:0018391	biolink:Disease	obsolete male infertility with spermatogenesis disorder		UMLS:CN227339|GARD:0012512|Orphanet:399775	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018391	UMLS:CN227339|Orphanet:399775	ordo_group_of_disorders
MONDO:0018394	biolink:Disease	male infertility with teratozoospermia due to single gene mutation	Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.	UMLS:CN252642|GARD:0012514|SCTID:764096006|Orphanet:399808	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018394	http://identifiers.org/snomedct/764096006|Orphanet:399808|UMLS:CN252642	ordo_disease
MONDO:0018393	biolink:Disease	male infertility with azoospermia or oligozoospermia due to single gene mutation	Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.	UMLS:CN225947|Orphanet:399805	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018393	UMLS:CN225947|Orphanet:399805	ordo_disease
MONDO:0033969	biolink:Disease	inflammatory bowel disease-recurrent sinopulmonary infections syndrome		Orphanet:529980	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033969	Orphanet:529980	ordo_disease
MONDO:0033968	biolink:Disease	immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome		Orphanet:529977	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033968	Orphanet:529977	ordo_disease
MONDO:0033967	biolink:Disease	obsolete immune dysregulation with inflammatory bowel disease		Orphanet:529974	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033967	Orphanet:529974	
MONDO:0018390	biolink:Disease	obsolete male infertility due to sperm disorder		UMLS:CN227338|Orphanet:399771	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018390	UMLS:CN227338|Orphanet:399771	ordo_group_of_disorders
GO:0045843	biolink:NamedThing	negative regulation of striated muscle tissue development	Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle development.		mondo.json	down-regulation of striated muscle development|down regulation of striated muscle development|downregulation of striated muscle development|inhibition of striated muscle development	http://purl.obolibrary.org/obo/GO_0045843		
GO:0045840	biolink:NamedThing	positive regulation of mitotic nuclear division	Any process that activates or increases the frequency, rate or extent of mitosis.		mondo.json	upregulation of mitosis|mitogenic activity|up-regulation of mitosis|up regulation of mitosis|activation of mitosis|positive regulation of mitosis|stimulation of mitosis	http://purl.obolibrary.org/obo/GO_0045840		
GO:0045844	biolink:NamedThing	positive regulation of striated muscle tissue development	Any process that activates or increases the frequency, rate or extent of striated muscle development.		mondo.json	up regulation of striated muscle development|activation of striated muscle development|stimulation of striated muscle development|upregulation of striated muscle development|up-regulation of striated muscle development	http://purl.obolibrary.org/obo/GO_0045844		
MONDO:0018399	biolink:Disease	obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018399		
HGNC:21606	biolink:NamedThing	MPC1			mondo.json		http://identifiers.org/hgnc/21606		
MONDO:0018396	biolink:Disease	obsolete rare male fertility disorder with obstructive azoospermia		Orphanet:399824|UMLS:CN227342	mondo.json	rare disorder due to impaired sperm transport|rare disorder with obstructive azoospermia	http://purl.obolibrary.org/obo/MONDO_0018396	UMLS:CN227342|Orphanet:399824	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0018395	biolink:Disease	obsolete male infertility due to sperm motility disorder		Orphanet:399813|UMLS:CN227341	mondo.json	Male infertility due to asthenozoospermia	http://purl.obolibrary.org/obo/MONDO_0018395	UMLS:CN227341|Orphanet:399813	ordo_group_of_disorders
MONDO:0018398	biolink:Disease	obsolete female infertility due to a congenital hypogonadotropic hypogonadism		Orphanet:399839	mondo.json	rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism	http://purl.obolibrary.org/obo/MONDO_0018398	Orphanet:399839	ordo_group_of_disorders
MONDO:0018397	biolink:Disease	obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder		Orphanet:399831|UMLS:CN227343	mondo.json	rare female infertility due to gonadotropic axis disorder|rare female infertility due to hypothalamic-pituitary-ovarian axis disorder	http://purl.obolibrary.org/obo/MONDO_0018397	UMLS:CN227343|Orphanet:399831	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0018381	biolink:Disease	osteochondrosis	A condition that is characterized by defective bone growth that affects the growth centers of bone.	GARD:0012704|Orphanet:399319|MESH:D055034|ICD9:732.6|ICD10CM:M42|UMLS:C0029429|SCTID:19579005|DOID:8125|NCIT:C34879|EFO:0008575	mondo.json	apophysitis|epiphysitis|epiphyseal necrosis|osteochondritis juvenilis|osteochondritis|osteochondrosis not specified as adult or juvenile, of unspecified site	http://purl.obolibrary.org/obo/MONDO_0018381	DOID:8125|UMLS:C0029429|http://identifiers.org/mesh/D055034|http://identifiers.org/snomedct/19579005|Orphanet:399319|NCIT:C34879|http://purl.bioontology.org/ontology/ICD10CM/M42	disease_grouping|ordo_group_of_disorders|gard_rare
MONDO:0018380	biolink:Disease	idiopathic avascular necrosis		Orphanet:399307	mondo.json	idiopathic AVN	http://purl.obolibrary.org/obo/MONDO_0018380	Orphanet:399307	ordo_disease
MONDO:0018383	biolink:Disease	osteonecrosis of genetic origin	An instance of osteonecrosis that is caused by a modification of the individual's genome.	Orphanet:399380	mondo.json	genetic osteonecrosis|bone necrosis of genetic origin	http://purl.obolibrary.org/obo/MONDO_0018383	Orphanet:399380	disease_grouping|ordo_group_of_disorders
MONDO:0018382	biolink:Disease	epiphysiolysis of the hip	Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee).	EFO:1001317|Orphanet:399329|SCTID:26460006	mondo.json	SufE|slipped capital femoral epiphysis|SCFE|epiphysiolysis of the upper femur|slipped upper femoral epiphysis|femoral head epiphysiolysis	http://purl.obolibrary.org/obo/MONDO_0018382	Orphanet:399329|http://identifiers.org/snomedct/26460006	ordo_disease
GO:0018271	biolink:NamedThing	biotin-protein ligase activity	Catalysis of the reaction: ATP + biotin + protein = AMP + diphosphate + biotin-protein.		mondo.json	biotin-apoprotein ligase activity	http://purl.obolibrary.org/obo/GO_0018271		
GO:0006289	biolink:NamedThing	nucleotide-excision repair	A DNA repair process in which a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts).		mondo.json	intrastrand cross-link repair|pyrimidine-dimer repair, DNA damage excision|NER	http://purl.obolibrary.org/obo/GO_0006289		
MONDO:0043300	biolink:Disease	actinic cheilitis		UMLS:C0267026|SCTID:46795000|MESH:C535669|GARD:0009619	mondo.json	solar keratosis of lip|actinic cheilitis|actinic cheilosis	http://purl.obolibrary.org/obo/MONDO_0043300	http://identifiers.org/snomedct/46795000|UMLS:C0267026|http://identifiers.org/mesh/C535669	gard_rare
MONDO:0006398	biolink:Disease	retroperitoneal inflammatory myofibroblastic tumor	A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.	EFO:1000510|NCIT:C39741|UMLS:C1514921	mondo.json	retroperitoneal space inflammatory myofibroblastic tumor|retroperitoneal inflammatory myofibroblastic tumor	http://purl.obolibrary.org/obo/MONDO_0006398	NCIT:C39741|UMLS:C1514921	
MONDO:0043303	biolink:Disease	hyperacusis	A disorder in which an individual has an abnormally low noise tolerance, and increased sensitivity to sounds.	GARD:0009655|SCTID:25289003|MESH:D012001|NCIT:C116366	mondo.json	loudness recruitment|sounds seem unnaturally loud|hyperacusia|auditory Hyperesthesias|hyperesthesia, auditory|disturbances, loudness perception|low tolerance to sound|perception disturbance, loudness|auditory hyperesthesia|hyperacusias|hyperesthesias, auditory|loudness Recruitments|perception disturbances, loudness|hyperacusis|oversensitive hearing|phonophobia|loudness perception disturbance|disturbance, loudness perception|hyperacuses|loudness perception disturbances|recruitment, loudness|Phonophobias	http://purl.obolibrary.org/obo/MONDO_0043303	http://identifiers.org/mesh/D012001|NCIT:C116366|http://identifiers.org/snomedct/25289003	gard_rare
MONDO:0006399	biolink:Disease	obsolete rhabdoid tumor of the kidney			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006399		
MONDO:0006396	biolink:Disease	rectal villous adenoma	A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.	SCTID:312823001|NCIT:C4919|EFO:1000506|UMLS:C0730199	mondo.json	villous adenoma of rectum|villous adenoma of the rectum|rectum villous adenoma|rectal villous adenoma	http://purl.obolibrary.org/obo/MONDO_0006396	UMLS:C0730199|NCIT:C4919|http://identifiers.org/snomedct/312823001	
MONDO:0006397	biolink:Disease	renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions	A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns.	EFO:1000508|ONCOTREE:TRCC|NCIT:C27891|ICDO:0000/0|UMLS:C1337036	mondo.json	renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions|Xp11.2 translocation-related renal cell carcinoma|translocation-associated renal cell carcinoma|TFE3-Rearranged renal cell carcinoma|renal cell cancer associated with Xp11.2 translocations/TFE3 Gene fusions|tRCC	http://purl.obolibrary.org/obo/MONDO_0006397	NCIT:C27891|UMLS:C1337036	
MONDO:0006394	biolink:Disease	rectal tubular adenoma	A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features.	EFO:1000504|UMLS:C3272804|NCIT:C96477	mondo.json	rectal tubular adenoma	http://purl.obolibrary.org/obo/MONDO_0006394	NCIT:C96477|UMLS:C3272804	
MONDO:0006395	biolink:Disease	rectal tubulovillous adenoma	A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features.	EFO:1000505|UMLS:C1335691|SCTID:448428002|NCIT:C5620	mondo.json	tubulovillous adenoma of rectum|tubulovillous adenoma of the rectum|Villotubular adenoma of rectum|rectal tubulovillous adenoma|Villotubular adenoma of the rectum|rectal Villotubular adenoma	http://purl.obolibrary.org/obo/MONDO_0006395	NCIT:C5620|UMLS:C1335691|http://identifiers.org/snomedct/448428002	
MONDO:0006392	biolink:Disease	rectal hyperplastic polyp	A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps.	NCIT:C5619|EFO:1000502|UMLS:C1335679	mondo.json	rectal Hp|rectal MP|rectal metaplastic polyp|hyperplastic polyp of rectum|hyperplastic polyp of the rectum	http://purl.obolibrary.org/obo/MONDO_0006392	NCIT:C5619|UMLS:C1335679	
MONDO:0006393	biolink:Disease	rectal traditional serrated adenoma	An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia.	EFO:1000503|NCIT:C96463|UMLS:C3272790	mondo.json	rectal serrated adenoma type II|rectal TSA|rectal serrated adenoma|rectal traditional serrated adenoma	http://purl.obolibrary.org/obo/MONDO_0006393	NCIT:C96463|UMLS:C3272790	
MONDO:0006390	biolink:Disease	prostate small cell carcinoma	A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells.	DOID:7141|UMLS:C1300585|EFO:1000499|SCTID:396198006|NCIT:C6766|ONCOTREE:PRSCC	mondo.json	small cell carcinoma of prostate gland|prostate oat cell carcinoma|prostate gland small cell carcinoma|PRSCC|Oat cell carcinoma of prostate|prostate Oat cell carcinoma|Oat cell carcinoma of the prostate|prostate small cell neuroendocrine carcinoma|small cell carcinoma of prostate|small cell carcinoma of the prostate|prostate small cell carcinoma|prostate small cell NEC	http://purl.obolibrary.org/obo/MONDO_0006390	DOID:7141|UMLS:C1300585|NCIT:C6766|http://identifiers.org/snomedct/396198006	
GO:0045859	biolink:NamedThing	regulation of protein kinase activity	Any process that modulates the frequency, rate or extent of protein kinase activity.		mondo.json		http://purl.obolibrary.org/obo/GO_0045859		
MONDO:0006391	biolink:Disease	pyloric gland adenoma	A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed.	NCIT:C43526|EFO:1000501|UMLS:C1709780	mondo.json	pyloric gastric gland adenoma|pyloric gland adenoma	http://purl.obolibrary.org/obo/MONDO_0006391	NCIT:C43526|UMLS:C1709780	
MONDO:0018389	biolink:Disease	obsolete male infertility due to gonadal dysgenesis or sperm disorder		UMLS:CN227337|Orphanet:399764	mondo.json	Male infertility due to testicular dysgenesis or sperm disorder	http://purl.obolibrary.org/obo/MONDO_0018389	UMLS:CN227337|Orphanet:399764	ordo_group_of_disorders
MONDO:0018388	biolink:Disease	obsolete rare male infertility due to testicular endocrine disorder		UMLS:CN227336|Orphanet:399685	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018388	UMLS:CN227336|Orphanet:399685	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
NCBITaxon:33833	biolink:OrganismalEntity	Vestibuliferida		GC_ID:1	mondo.json	Vestibulifera	http://purl.obolibrary.org/obo/NCBITaxon_33833		
MONDO:0031322	biolink:Disease	triopia	A craniofacial malformation with prosencephalic duplication; the presence of three eyes.	Orphanet:3374|ICD10CM:Q15.8	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031322	Orphanet:3374	ordo_disorder|n_of_one
MONDO:0018385	biolink:Disease	osteochondrosis of genetic origin	An instance of osteochondrosis that is caused by a modification of the individual's genome.	Orphanet:399391	mondo.json	genetic osteochondrosis	http://purl.obolibrary.org/obo/MONDO_0018385	Orphanet:399391	disease_grouping|ordo_group_of_disorders
MONDO:0033981	biolink:Disease	obsolete krt1-related diffuse nonepidermolytic keratoderma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0033981		
MONDO:0018384	biolink:Disease	avascular necrosis of genetic origin	An instance of avascular necrosis that is caused by a modification of the individual's genome.	Orphanet:399388	mondo.json	genetic avascular necrosis	http://purl.obolibrary.org/obo/MONDO_0018384	Orphanet:399388	ordo_group_of_disorders|disease_grouping
MONDO:0033980	biolink:Disease	RELA fusion-positive ependymoma		Orphanet:530792	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033980	Orphanet:530792	ordo_disease
MONDO:0018387	biolink:Disease	obsolete rare male infertility due to adrenal disorder		UMLS:CN227335|Orphanet:399584	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018387	UMLS:CN227335|Orphanet:399584	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0018386	biolink:Disease	obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder		UMLS:CN227334|Orphanet:399572	mondo.json	rare male infertility due to gonadotropic axis disorder|rare male infertility due to hypothalamic-pituitary-testicular axis disorder	http://purl.obolibrary.org/obo/MONDO_0018386	UMLS:CN227334|Orphanet:399572	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0018370	biolink:Disease	KLHL9-related early-onset distal myopathy	KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.	Orphanet:399081|SCTID:763776004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018370	http://identifiers.org/snomedct/763776004|Orphanet:399081	ordo_disease
MONDO:0018372	biolink:Disease	obsolete osteonecrosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018372		
MONDO:0018371	biolink:Disease	nebulin-related early-onset distal myopathy		Orphanet:399103	mondo.json	distal nebulin myopathy	http://purl.obolibrary.org/obo/MONDO_0018371	Orphanet:399103	ordo_disease
GO:0045864	biolink:NamedThing	positive regulation of pteridine metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving pteridine.		mondo.json	up-regulation of pteridine metabolic process|positive regulation of pteridine metabolism|up regulation of pteridine metabolic process|activation of pteridine metabolic process|stimulation of pteridine metabolic process|upregulation of pteridine metabolic process	http://purl.obolibrary.org/obo/GO_0045864		
MONDO:0043314	biolink:Disease	aquarium granuloma	A skin condition caused by Mycobacterium marinum, characterized by a skin lesion that presents roughly three weeks after exposure.	GARD:0009712|SCTID:240417004|UMLS:C0275708|MESH:C535526	mondo.json	fish tank granuloma|Mycobacterium marinum infection|M. marinum|Mycobacterium marinum caused skin disease|Mycobacterium marinum skin disease|aquarium granuloma|swimming pool granuloma	http://purl.obolibrary.org/obo/MONDO_0043314	UMLS:C0275708|http://identifiers.org/snomedct/240417004|http://identifiers.org/mesh/C535526	gard_rare
GO:0045862	biolink:NamedThing	positive regulation of proteolysis	Any process that activates or increases the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein.		mondo.json	activation of proteolysis|stimulation of proteolysis|upregulation of proteolysis|positive regulation of peptidolysis|up-regulation of proteolysis|up regulation of proteolysis	http://purl.obolibrary.org/obo/GO_0045862		
GO:0045863	biolink:NamedThing	negative regulation of pteridine metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving pteridine.		mondo.json	down regulation of pteridine metabolic process|negative regulation of pteridine metabolism|downregulation of pteridine metabolic process|inhibition of pteridine metabolic process|down-regulation of pteridine metabolic process	http://purl.obolibrary.org/obo/GO_0045863		
GO:0045860	biolink:NamedThing	positive regulation of protein kinase activity	Any process that activates or increases the frequency, rate or extent of protein kinase activity.		mondo.json	stimulation of protein kinase activity|upregulation of protein kinase activity|up-regulation of protein kinase activity|up regulation of protein kinase activity	http://purl.obolibrary.org/obo/GO_0045860		
GO:0045861	biolink:NamedThing	negative regulation of proteolysis	Any process that stops, prevents, or reduces the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein.		mondo.json	negative regulation of peptidolysis|down-regulation of proteolysis|down regulation of proteolysis|downregulation of proteolysis|inhibition of proteolysis	http://purl.obolibrary.org/obo/GO_0045861		
MONDO:0043310	biolink:Disease	amaurosis fugax	Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245)	SCTID:88032003|NCIT:C84550|GARD:0009660|MESH:D020757	mondo.json	blindness, monocular, transient|amaurosis fugax|momentary blindness|amaurosis fugax (one sided temporary vision loss)|monocular blindness, transient|blindness, transient monocular|transient monocular blindness	http://purl.obolibrary.org/obo/MONDO_0043310	http://identifiers.org/snomedct/88032003|NCIT:C84550|http://identifiers.org/mesh/D020757	gard_rare
GO:0043209	biolink:NamedThing	myelin sheath	An electrically insulating fatty layer that surrounds the axons of many neurons. It is an outgrowth of glial cells: Schwann cells supply the myelin for peripheral neurons while oligodendrocytes supply it to those of the central nervous system.		mondo.json	astrocyte sheath|Schwann cell myelin sheath|oligodendrocyte myelin sheath	http://purl.obolibrary.org/obo/GO_0043209		
GO:0043207	biolink:NamedThing	response to external biotic stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external biotic stimulus, an external stimulus caused by, or produced by living things.		mondo.json		http://purl.obolibrary.org/obo/GO_0043207		
MONDO:0018378	biolink:Disease	osteonecrosis of the jaw	An area of necrotic bone in the mandible or maxilla.	Orphanet:399293|ICD9:733.45|SCTID:441809006|UMLS:C2711248|NCIT:C63924	mondo.json	jaw osteonecrosis|ONJ|osteonecrosis of jaw	http://purl.obolibrary.org/obo/MONDO_0018378	NCIT:C63924|UMLS:C2711248|Orphanet:399293|http://identifiers.org/snomedct/441809006	ordo_disease
MONDO:0018377	biolink:Disease	obsolete rare hereditary disease with avascular necrosis		Orphanet:399185|UMLS:CN205038	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018377	UMLS:CN205038|Orphanet:399185	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0031332	biolink:Disease	Glanzmann thrombasthenia 1	A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia	NCIT:C61249|MESH:D013915|DOID:2219|OMIM:273800|GARD:0002478|SCTID:32942005	mondo.json	Diacyclothrombopathia 2B 3A|glycoprotein IIb/IIIa defect|Platelet glycoprotein 2B 3A deficiency|Glanzmann's thrombasthenia|glycoprotein Complex IIb-IIIa, deficiency of|deficiency of glycoprotein complex IIb-IIIa|bleeding disorder, Platelet-type, 2|Glanzmann thrombasthenia 1|Thrombocytasthenia|BDPLT2|platelet-type bleeding disorder 2|Glanzmann thrombasthenia type A|Glanzmann thrombasthenia|deficiency of GP 2B 3A complex|GT|deficiency of platelet fibrinogen receptor|Platelet glycoprotein IIb-IIIa deficiency|thrombasthenia of Glanzmann and Naegeli|deficiency of GP IIb-IIIa complex|Platelet fibrinogen receptor, deficiency of|thrombasthenia|GP IIb-IIIa Complex, deficiency of|platelet glycoprotein IIb-IIIa deficiency	http://purl.obolibrary.org/obo/MONDO_0031332	http://identifiers.org/snomedct/32942005|https://omim.org/entry/273800|http://identifiers.org/mesh/D013915|NCIT:C61249|DOID:2219	ordo_disease
MONDO:0018379	biolink:Disease	primary avascular necrosis		Orphanet:399302	mondo.json	primary AVN	http://purl.obolibrary.org/obo/MONDO_0018379	Orphanet:399302	ordo_group_of_disorders|disease_grouping
MONDO:0018374	biolink:Disease	secondary avascular necrosis		Orphanet:399169	mondo.json	secondary AVN	http://purl.obolibrary.org/obo/MONDO_0018374	Orphanet:399169	ordo_group_of_disorders|disease_grouping
MONDO:0018373	biolink:Disease	avascular necrosis	Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure.	Orphanet:399164|NCIT:C34841|SCTID:397758007	mondo.json	AVN|avascular necrosis of bone	http://purl.obolibrary.org/obo/MONDO_0018373	http://identifiers.org/snomedct/397758007|Orphanet:399164|NCIT:C34841	ordo_group_of_disorders|disease_grouping
MONDO:0018376	biolink:Disease	secondary non-traumatic avascular necrosis		Orphanet:399180	mondo.json	secondary non-traumatic AVN	http://purl.obolibrary.org/obo/MONDO_0018376	Orphanet:399180	ordo_disease
MONDO:0018375	biolink:Disease	traumatic avascular necrosis		Orphanet:399175	mondo.json	traumatic AVN	http://purl.obolibrary.org/obo/MONDO_0018375	Orphanet:399175	ordo_disease
MONDO:0006419	biolink:Disease	small intestinal intraepithelial neoplasia	A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion.	NCIT:C27462|EFO:1000536|UMLS:C1335999	mondo.json	small intestinal intraepithelial neoplasia|small intestinal dysplasia	http://purl.obolibrary.org/obo/MONDO_0006419	NCIT:C27462|UMLS:C1335999	
MONDO:0006417	biolink:Disease	small intestinal diffuse large B-cell lymphoma	A diffuse large B-cell lymphoma that arises from the small intestine.	EFO:1000534|NCIT:C96055|UMLS:C3272522	mondo.json	small intestine diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of small intestine|small intestinal diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0006417	NCIT:C96055|UMLS:C3272522	
MONDO:0006418	biolink:Disease	small intestinal enteropathy-associated T-cell lymphoma	An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate.	UMLS:C1519371|NCIT:C39610|EFO:1000535	mondo.json	small intestinal EATL|small intestinal enteropathy-type T-cell lymphoma|small intestine enteropathy-associated T-cell lymphoma|enteropathy-associated T-cell lymphoma of small intestine	http://purl.obolibrary.org/obo/MONDO_0006418	UMLS:C1519371|NCIT:C39610	
MONDO:0006415	biolink:Disease	obsolete small intestinal adenocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006415		
MONDO:0006416	biolink:Disease	small intestinal Burkitt lymphoma	A Burkitt lymphoma that arises from the small intestine.	UMLS:C1335991|NCIT:C27409|EFO:1000533	mondo.json	Burkitt lymphoma of small intestine|small intestine Burkitts lymphoma|small intestine Burkitt lymphoma|primary small intestinal Burkitt's lymphoma|small intestine Burkitt's lymphoma|small intestinal Burkitt's lymphoma|Burkitts lymphoma of small intestine|small intestinal Burkitt lymphoma	http://purl.obolibrary.org/obo/MONDO_0006416	NCIT:C27409|UMLS:C1335991	
MONDO:0006413	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0006413		
NCBITaxon:43219	biolink:OrganismalEntity	Herpotrichiellaceae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_43219		
MONDO:0006414	biolink:Disease	skin sarcoma	A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma.	UMLS:C0856900|NCIT:C5585|EFO:1000531|DOID:2687	mondo.json	skin sarcoma|zone of skin sarcoma|cutaneous sarcoma|sarcoma of skin|sarcoma of zone of skin|sarcoma of the skin	http://purl.obolibrary.org/obo/MONDO_0006414	DOID:2687|NCIT:C5585|UMLS:C0856900	
FOODON:03304511	biolink:NamedThing	seafood newburg (dish)		SUBSET_SIREN:F4511	mondo.json		http://purl.obolibrary.org/obo/FOODON_03304511		"subset_siren"
MONDO:0006411	biolink:Disease	sinonasal undifferentiated carcinoma	A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor.	NCIT:C54294|UMLS:C1710096|MESH:C537344|GARD:0009249|EFO:1000527|ONCOTREE:SNUC|SCTID:697993003	mondo.json	highly aggressive undifferentiated carcinoma of the nasal cavity and paranasal sinuses|SNUC|Sinonasal anaplastic carcinoma|sinonasal undifferentiated carcinoma|undifferentiated Sinonasal cancer	http://purl.obolibrary.org/obo/MONDO_0006411	NCIT:C54294|http://identifiers.org/mesh/C537344|http://identifiers.org/snomedct/697993003|UMLS:C1710096	gard_rare
MONDO:0006412	biolink:Disease	sinus histiocytosis with massive lymphadenopathy	A rare disorder of unknown etiology characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It usually regresses spontaneously.	ICD9:277.89|Orphanet:158014|ONCOTREE:RDD|EFO:1000528|MESH:D015618|SCTID:34287003|MedDRA:10063397|GARD:0007588|OMIM:602782|NCIT:C36075	mondo.json	Destombes-RosaC/-Dorfman disease|RDD|sinus histiocytosis with massive lymphadenopathy|RosaC/-Dorfman-Destombes disease|Rosai-Dorfman disease|Destombes-Rosaï-Dorfman disease|Rosaï-Dorfman-Destombes disease|SHML	http://purl.obolibrary.org/obo/MONDO_0006412	http://identifiers.org/snomedct/34287003|NCIT:C36075|http://identifiers.org/mesh/D015618|Orphanet:158014	ordo_disease
MONDO:0006410	biolink:Disease	simple endometrial hyperplasia	A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent.	NCIT:C35463|SCTID:198324001|EFO:1000525|UMLS:C0456483|ICD9:621.31	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006410	UMLS:C0456483|http://identifiers.org/snomedct/198324001|NCIT:C35463	
MONDO:0018408	biolink:Disease	cystic echinococcosis		GARD:0002764|DOID:1495|UMLS:C0153291|UMLS:C0153290|UMLS:C4303092|ICD9:122.4|Orphanet:400|MedDRA:10014096|SCTID:721822004	mondo.json	Hydatidosis|Echinococcus granulosus infectious disease of liver|hydatid disease|echinococcus granulosus infectious disease of liver|liver echinococcus granulosus|Echinococcus granulosus infection of thyroid|Echinococcus granulosus infection|lung echinococcus granulosus|echinococcus granulosus|echinococcus granulosus infectious disease of thyroid|unilocular hydatid disease|Echinococcus granulosus infection of lung|thyroid echinococcus granulosus|unilocular echinococcosis	http://purl.obolibrary.org/obo/MONDO_0018408	Orphanet:400|DOID:1495|UMLS:C0153291|UMLS:C0153290|http://identifiers.org/snomedct/721822004	ordo_disease|gard_rare
UBERON:0003296	biolink:AnatomicalEntity	gland of diencephalon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003296		
HP:0030976	biolink:PhenotypicFeature	Abnormal factor VIII activity	A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.		mondo.json		http://purl.obolibrary.org/obo/HP_0030976		
MONDO:0018407	biolink:Disease	obsolete male infertility due to obstructive azoospermia of genetic origin		Orphanet:399998	mondo.json	Male infertility due to impaired sperm transport of genetic origin	http://purl.obolibrary.org/obo/MONDO_0018407	Orphanet:399998	ordo_group_of_disorders
UBERON:0003297	biolink:AnatomicalEntity	gland of integumental system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003297		
UBERON:0003294	biolink:AnatomicalEntity	gland of foregut			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003294		
MONDO:0018409	biolink:Disease	obsolete rare genetic disorder with obstructive azoospermia		Orphanet:400003|UMLS:CN227352	mondo.json	rare genetic disorder due to impaired sperm transport	http://purl.obolibrary.org/obo/MONDO_0018409	Orphanet:400003|UMLS:CN227352	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
UBERON:0003295	biolink:AnatomicalEntity	pharyngeal gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003295		
UBERON:0003292	biolink:AnatomicalEntity	meninx of spinal cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003292		
MONDO:0018404	biolink:Disease	obsolete rare genetic male infertility	OBSOLETE. Rare genetic male infertility.	Orphanet:399980|UMLS:CN227349	mondo.json	rare genetic male infertility	http://purl.obolibrary.org/obo/MONDO_0018404	Orphanet:399980|UMLS:CN227349	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
HP:0030972	biolink:PhenotypicFeature	Abnormal systemic blood pressure	A chronic deviation from normal pressure in the systemic arterial system.		mondo.json	Abnormal systemic BP	http://purl.obolibrary.org/obo/HP_0030972		
MONDO:0018403	biolink:Disease	obsolete female infertility due to an implantation defect		ICD10CM:N97.2|Orphanet:399882	mondo.json	rare female infertility due to an implantation defect	http://purl.obolibrary.org/obo/MONDO_0018403	Orphanet:399882	ordo_group_of_disorders
MONDO:0018406	biolink:Disease	obsolete rare male infertility due to adrenal disorder of genetic origin		UMLS:CN227351|Orphanet:399994	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018406	Orphanet:399994|UMLS:CN227351	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
UBERON:0003290	biolink:AnatomicalEntity	meninx of diencephalon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003290		
MONDO:0018405	biolink:Disease	obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	OBSOLETE. An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome.	UMLS:CN227350|Orphanet:399983	mondo.json	rare male infertility due to gonadotropic axis disorder of genetic origin|genetic rare male infertility due to hypothalamic-pituitary-gonadal axis disorder|rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin	http://purl.obolibrary.org/obo/MONDO_0018405	Orphanet:399983|UMLS:CN227350	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
UBERON:0003291	biolink:AnatomicalEntity	meninx of hindbrain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003291		
MONDO:0018400	biolink:Disease	obsolete rare female infertility due to an adrenal disorder		Orphanet:399849|UMLS:CN227346	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018400	UMLS:CN227346|Orphanet:399849	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
CHEBI:22868	biolink:ChemicalSubstance	bile salt	A sodium salt of the conjugate of any bile acid with either glycine or taurine.		mondo.json	bile salts|Bile acid	http://purl.obolibrary.org/obo/CHEBI_22868		
MONDO:0018402	biolink:Disease	obsolete female infertility due to gonadal dysgenesis		Orphanet:399877	mondo.json	rare female infertility due to gonadal dysgenesis|female infertility due to ovarian dysgenesis|rare female infertility due to ovarian dysgenesis	http://purl.obolibrary.org/obo/MONDO_0018402	Orphanet:399877	ordo_group_of_disorders
MONDO:0018401	biolink:Disease	obsolete female infertility due to an anomaly of ovarian function		Orphanet:399853|UMLS:CN227347	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018401	UMLS:CN227347|Orphanet:399853	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
UBERON:0003299	biolink:AnatomicalEntity	roof plate of midbrain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003299		
MONDO:0006428	biolink:Disease	splenic diffuse large B-cell lymphoma	A diffuse large B-cell lymphoma occurring in the spleen.	EFO:1000547|NCIT:C7308|UMLS:C2018774	mondo.json	primary splenic diffuse large B-cell lymphoma|splenic diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0006428	NCIT:C7308|UMLS:C2018774	
MONDO:0006429	biolink:Disease	splenic hodgkin lymphoma	A rare Hodgkin lymphoma that arises from the spleen.	SCTID:93527005|NCIT:C7295|EFO:1000548|UMLS:C0153791	mondo.json	splenic Hodgkin's lymphoma|Hodgkin's disease of spleen|primary splenic Hodgkin's lymphoma|Hodgkin's disease of the spleen|Hodgkin's lymphoma of spleen|Hodgkin's lymphoma of the spleen|splenic Hodgkins lymphoma|splenic Hodgkin's disease	http://purl.obolibrary.org/obo/MONDO_0006429	NCIT:C7295|http://identifiers.org/snomedct/93527005|UMLS:C0153791	
MONDO:0006426	biolink:Disease	spinal cord primitive neuroectodermal tumor	A central nervous system embryonal tumor, not otherwise specified arising from the spinal cord.	DOID:6872|NCIT:C5406|EFO:1000545|UMLS:C1336048	mondo.json	primitive neuroectodermal tumor of the spinal cord|primitive neuroectodermal tumor of spinal cord|spinal cord PNET|primitive neuroectodermal neoplasm of the spinal cord|spinal cord primitive neuroectodermal neoplasm|primitive neuroectodermal neoplasm of spinal cord|spinal cord primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/MONDO_0006426	UMLS:C1336048|NCIT:C5406|DOID:6872	
HP:0040307	biolink:PhenotypicFeature	Male sexual dysfunction	A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity		mondo.json		http://purl.obolibrary.org/obo/HP_0040307		
MONDO:0006427	biolink:Disease	spindle cell melanoma	A melanoma characterized by the presence of malignant spindle-shaped melanocytes.	SCTID:403923002|ICDO:8772/3|NCIT:C4237|DOID:3162|EFO:1000546|UMLS:C0334444	mondo.json	spindle cell malignant melanoma|malignant spindle cell melanoma|desmoplastic melanoma|spindle cell melanoma|spitzoid malignant melanoma	http://purl.obolibrary.org/obo/MONDO_0006427	NCIT:C4237|UMLS:C0334444|http://identifiers.org/snomedct/403923002|DOID:3162	
MONDO:0006424	biolink:Disease	soft tissue neoplasm	A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms.	SCTID:387837005|ONCOTREE:SOFTTISSUE|NCIT:C3377|EFO:1000541	mondo.json	tumor of the soft tissue|tumor of soft tissue|neoplasm of the soft tissue|soft tissue neoplasm|neoplasm of soft tissue|SOFTTISSUE|soft tissue tumor|soft tissue tumors	http://purl.obolibrary.org/obo/MONDO_0006424	http://identifiers.org/snomedct/387837005|NCIT:C3377	
MONDO:0006425	biolink:Disease	obsolete spinal chordoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006425		
MONDO:0006422	biolink:Disease	small intestinal tubulovillous adenoma	A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features.	EFO:1000539|UMLS:C1710113|NCIT:C43553	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006422	NCIT:C43553|UMLS:C1710113	
MONDO:0006423	biolink:Disease	soft tissue chondroma	A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification.	UMLS:C1275277|DOID:3814|SCTID:404078000|EFO:1000540|NCIT:C9482	mondo.json	chondroma of soft parts|extraskeletal osteochondroma|soft tissue chondroma|extraskeletal chondroma	http://purl.obolibrary.org/obo/MONDO_0006423	DOID:3814|UMLS:C1275277|http://identifiers.org/snomedct/404078000|NCIT:C9482	
MONDO:0006420	biolink:Disease	small intestinal mucosa-associated lymphoid tissue lymphoma	A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine.	EFO:1000537|UMLS:C1336004|NCIT:C5635	mondo.json	MALToma of the small intestine|MALT lymphoma of the small bowel|mucosa-associated lymphoid tissue lymphoma of the small intestine|MALToma of small intestine|mucosa-associated lymphoid tissue lymphoma of small intestine|MALT lymphoma of small bowel|small bowel MALToma|small bowel mucosa-associated lymphoid tissue lymphoma|mucosa-associated lymphoid tissue lymphoma of the small bowel|MALT lymphoma of the small intestine|MALToma of the small bowel|MALToma of small bowel|MALT lymphoma of small intestine|mucosa-associated lymphoid tissue lymphoma of small bowel|small intestine MALToma|small bowel MALT lymphoma|small intestinal mucosa-associated lymphoid tissue lymphoma|small intestine mucosa-associated lymphoid tissue lymphoma|small intestine MALT lymphoma	http://purl.obolibrary.org/obo/MONDO_0006420	NCIT:C5635|UMLS:C1336004	
MONDO:0006421	biolink:Disease	small intestinal tubular adenoma	A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features.	EFO:1000538|UMLS:C1710112|NCIT:C43552	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006421	NCIT:C43552|UMLS:C1710112	
HP:0003355	biolink:PhenotypicFeature	Aminoaciduria	An increased concentration of an amino acid in the urine.	SNOMEDCT_US:35912001|UMLS:C0238621|UMLS:C4020843	mondo.json	Hyperaminoaciduria|High urine amino acid levels|Abnormal urinary amino-acid findings|Increased levels of animo acids in urine	http://purl.obolibrary.org/obo/HP_0003355		
UBERON:0003283	biolink:AnatomicalEntity	mesentery of oesophagus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003283		
UBERON:0003284	biolink:AnatomicalEntity	mesentery of midgut			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003284		
UBERON:0003281	biolink:AnatomicalEntity	mesentery of stomach			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003281		
UBERON:0003282	biolink:AnatomicalEntity	mesentery of heart			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003282		
UBERON:0003280	biolink:AnatomicalEntity	endothelium of main bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003280		
HGNC:1476	biolink:NamedThing	CAPN1			mondo.json		http://identifiers.org/hgnc/1476		
HGNC:1477	biolink:NamedThing	CAPN10			mondo.json		http://identifiers.org/hgnc/1477		
UBERON:0003289	biolink:AnatomicalEntity	meninx of telencephalon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003289		
HP:0003351	biolink:PhenotypicFeature	Decreased circulating renin level	An decreased level of renin in the blood.	UMLS:C1845206	mondo.json	Decreased plasma renin activity|Low plasma renin activity|Suppressed plasma renin activity	http://purl.obolibrary.org/obo/HP_0003351		
UBERON:0003288	biolink:AnatomicalEntity	meninx of midbrain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003288		
UBERON:0015251	biolink:AnatomicalEntity	modified sebaceous gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015251		
UBERON:0039261	biolink:AnatomicalEntity	pancreatic artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0039261		
HGNC:1482	biolink:NamedThing	CAPN5			mondo.json		http://identifiers.org/hgnc/1482		
HGNC:1480	biolink:NamedThing	CAPN3			mondo.json		http://identifiers.org/hgnc/1480		
MONDO:0031400	biolink:Disease	Tessadori-Van-Haaften neurodevelopmental syndrome		OMIMPS:619758	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031400	https://omim.org/phenotypicSeries/PS619758	
UBERON:0003278	biolink:AnatomicalEntity	skeleton of lower jaw			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003278		
UBERON:0003279	biolink:AnatomicalEntity	endothelium of trachea			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003279		
UBERON:0003277	biolink:AnatomicalEntity	skeleton of upper jaw			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003277		
MONDO:0006408	biolink:Disease	sex hormone-producing adrenal cortex adenoma	A rare adenoma of the adrenal cortex that produces androgens or estrogens.	UMLS:C1710067|NCIT:C48452|EFO:1000523	mondo.json	Sex hormone producing adrenal cortical adenoma|Sex hormone producing adrenal cortex adenoma	http://purl.obolibrary.org/obo/MONDO_0006408	UMLS:C1710067|NCIT:C48452	
MONDO:0006409	biolink:Disease	signet ring cell gastric adenocarcinoma	A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin.	NCIT:C5250|UMLS:C1335965|ONCOTREE:SSRCC|DOID:8025|EFO:1000524	mondo.json	signet Ring cell adenocarcinoma of stomach|gastric signet Ring cell adenocarcinoma|gastric signet ring cell adenocarcinoma|signet ring cell carcinoma of the stomach|signet ring cell gastric adenocarcinoma|signet Ring cell adenocarcinoma of the stomach|signet Ring cell stomach adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006409	NCIT:C5250|DOID:8025|UMLS:C1335965	
MONDO:0006406	biolink:Disease	sarcomatoid carcinoma	A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present.	DOID:4015|ICDO:8033/3|ICDO:8032/3|UMLS:C0205697|NCIT:C27004|EFO:1000520	mondo.json	carcinoma, spindle cell, malignant|pseudosarcomatous carcinoma|spindle cell carcinoma (morphologic abnormality)|spindle cell carcinoma|sarcomatoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0006406	DOID:4015|NCIT:C27004|UMLS:C0205697	
MONDO:0006407	biolink:Disease	sarcomatoid mesothelioma	A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen.	DOID:4488|UMLS:C0334513|NCIT:C45655|EFO:1000521	mondo.json	malignant fibrous mesothelioma (morphologic abnormality)|sarcomatoid mesothelioma (morphologic abnormality)|spindled mesothelioma|sarcomatoid mesothelioma|malignant fibrous mesothelioma	http://purl.obolibrary.org/obo/MONDO_0006407	DOID:4488|NCIT:C45655|UMLS:C0334513	
MONDO:0006404	biolink:Disease	salivary gland large cell carcinoma	A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass.	EFO:1000517|UMLS:C2111671|NCIT:C35735	mondo.json	large cell undifferentiated salivary gland carcinoma|saliva-secreting gland large cell carcinoma|large cell salivary gland carcinoma|salivary gland large cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006404	UMLS:C2111671|NCIT:C35735	
MONDO:0006405	biolink:Disease	salivary gland small cell carcinoma	An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures.	EFO:1000519|NCIT:C35703|UMLS:C1335982	mondo.json	saliva-secreting gland small cell carcinoma|small cell carcinoma of saliva-secreting gland|salivary gland anaplastic small cell carcinoma|salivary gland small cell carcinoma|neuroendocrine carcinoma of salivary gland|neuroendocrine carcinoma of the salivary gland|anaplastic small cell carcinoma of salivary gland|anaplastic small cell carcinoma of the salivary gland|small cell salivary gland carcinoma|salivary gland neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0006405	NCIT:C35703|UMLS:C1335982	
MONDO:0006402	biolink:Disease	salivary gland basal cell adenocarcinoma	A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients.	ICDO:8147/3|EFO:1000515|NCIT:C3678	mondo.json	basal cell adenocarcinoma|salivary gland basal cell adenocarcinoma|skin basal cell carcinoma of saliva-secreting gland|saliva-secreting gland skin basal cell carcinoma|basal cell adenocarcinoma of salivary gland|basal cell adenocarcinoma of the salivary gland	http://purl.obolibrary.org/obo/MONDO_0006402	NCIT:C3678	
MONDO:0006403	biolink:Disease	salivary gland carcinoma ex pleomorphic adenoma	A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.	EFO:1000516|DOID:297|NCIT:C40410|UMLS:C1519172	mondo.json	saliva-secreting gland carcinoma ex pleomorphic adenoma|salivary gland carcinoma ex pleomorphic adenoma|pleomorphic adenoma carcinoma	http://purl.obolibrary.org/obo/MONDO_0006403	UMLS:C1519172|NCIT:C40410|DOID:297	
MONDO:0006400	biolink:Disease	salivary gland acinic cell carcinoma	A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis.	NCIT:C8013|EFO:1000513|UMLS:C0279738	mondo.json	salivary gland acinic cell cancer|salivary gland acinic cell tumor|acinic cell neoplasm of salivary gland|acinic cell neoplasm of the salivary gland|acinic cell tumor of salivary gland|acinic cell carcinoma of salivary gland|salivary gland acinic cell neoplasm|acinic cell tumor of the salivary gland|acinic cell carcinoma of the salivary gland	http://purl.obolibrary.org/obo/MONDO_0006400	UMLS:C0279738|NCIT:C8013	
UBERON:0015249	biolink:AnatomicalEntity	digit skin			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015249		
MONDO:0006401	biolink:Disease	salivary gland adenosquamous carcinoma	A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component.	NCIT:C35737|EFO:1000514|UMLS:C1335894	mondo.json	salivary gland adenosquamous carcinoma|saliva-secreting gland adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006401	UMLS:C1335894|NCIT:C35737	
HGNC:1492	biolink:NamedThing	SHPK			mondo.json		http://identifiers.org/hgnc/1492		
UBERON:0003261	biolink:AnatomicalEntity	thyroid primordium endoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003261		
UBERON:0003262	biolink:AnatomicalEntity	amniotic mesoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003262		
UBERON:0003260	biolink:AnatomicalEntity	endoderm of hindgut			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003260		
OBO:ECTO_0001152	biolink:NamedThing	exposure to organochlorine compound	An exposure to organochlorine compound.		mondo.json	exposure to organochlorine compound	http://purl.obolibrary.org/obo/ECTO_0001152		
UBERON:0003269	biolink:AnatomicalEntity	skeletal muscle tissue of eye			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003269		
UBERON:0003267	biolink:AnatomicalEntity	tooth of upper jaw			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003267		
HP:0003330	biolink:PhenotypicFeature	Abnormal bone structure	Any anomaly in the composite material or the layered arrangement of the bony skeleton.	UMLS:C4025630	mondo.json		http://purl.obolibrary.org/obo/HP_0003330		
UBERON:0003268	biolink:AnatomicalEntity	tooth of lower jaw			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003268		
HGNC:1497	biolink:NamedThing	CASK			mondo.json		http://identifiers.org/hgnc/1497		
UBERON:0003265	biolink:AnatomicalEntity	chorionic mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003265		
HGNC:1494	biolink:NamedThing	ALX1			mondo.json		http://identifiers.org/hgnc/1494		
MONDO:0006459	biolink:Disease	thymoma type B1	A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors.	ICDO:8583/1|DOID:6917|NCIT:C6887|EFO:1000584|UMLS:C1266094	mondo.json	thymoma type B1|predominantly cortical thymoma|lymphocyte-rich thymoma|lymphocyte-predominant thymoma|thymoma, organoid|organoid thymoma	http://purl.obolibrary.org/obo/MONDO_0006459	UMLS:C1266094|DOID:6917|NCIT:C6887	
MONDO:0006457	biolink:Disease	obsolete thymoma type AB			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006457		
MONDO:0006458	biolink:Disease	thymoma type B3	Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases.	NCIT:C7997|DOID:7926|EFO:1000583|UMLS:C0279705|ICDO:8585/3|ICDO:8585/1	mondo.json	well-differentiated thymic carcinoma|epithelial malignant thymoma|atypical thymoma|thymoma, epithelial|squamoid thymoma|epithelial thymoma|thymoma type B3|well differentiated thymic carcinoma|malignant thymoma type B3	http://purl.obolibrary.org/obo/MONDO_0006458	DOID:7926|UMLS:C0279705|NCIT:C7997	
MONDO:0006455	biolink:Disease	thymic undifferentiated carcinoma	A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features.	NCIT:C35718|UMLS:C1336865|EFO:1000580	mondo.json	thymic undifferentiated carcinoma	http://purl.obolibrary.org/obo/MONDO_0006455	UMLS:C1336865|NCIT:C35718	
CHEBI:83813	biolink:ChemicalSubstance	proteinogenic amino acid	Any of the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. Apart from glycine, which is non-chiral, all have L configuration.		mondo.json	canonical amino acid|canonical amino acids|proteinogenic amino acids	http://purl.obolibrary.org/obo/CHEBI_83813		
MONDO:0006456	biolink:Disease	thymoma	A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course.	ICD9:239.89|MESH:D013945|ICDO:8580/1|ONCOTREE:THYM|Orphanet:99867|UMLS:C0040100|ICD10CM:D15.0|MedDRA:10043670|DOID:3275|NCIT:C3411|EFO:1000581|HP:0100522|SCTID:444231005	mondo.json	primary thymic epithelial neoplasm|THYM|primary thymic epithelial tumor|thymoma|thymoma (disease)	http://purl.obolibrary.org/obo/MONDO_0006456	NCIT:C3411|http://identifiers.org/snomedct/444231005|Orphanet:99867|http://identifiers.org/mesh/D013945|DOID:3275|UMLS:C0040100	ordo_disease
CHEBI:83812	biolink:ChemicalSubstance	non-proteinogenic amino acid derivative	Any derivative of a non-proteinogenic amino acid resulting from reaction at an amino group or carboxy group, or from the replacement of any hydrogen by a heteroatom.		mondo.json	non-canonical amino acid derivative|non-proteinogenic amino-acid derivatives|non-canonical amino-acid derivatives	http://purl.obolibrary.org/obo/CHEBI_83812		
CHEBI:83811	biolink:ChemicalSubstance	proteinogenic amino acid derivative	Any derivative of a proteinogenic amino acid resulting from reaction at an amino group, carboxy group, or a side-chain functional group, or from the replacement of any hydrogen by a heteroatom.		mondo.json	proteinogenic amino acid derivatives|canonical amino acid derivative|proteinogenic amino-acid derivatives|proteinogenic amino-acid derivative|canonical amino acid derivatives|canonical amino-acid derivatives|canonical amino-acid derivative	http://purl.obolibrary.org/obo/CHEBI_83811		
MONDO:0006453	biolink:Disease	obsolete thymic small cell carcinoma	OBSOLETE. An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0006453		
MONDO:0006454	biolink:Disease	obsolete thymic squamous cell carcinoma	OBSOLETE. A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0006454		
MONDO:0006451	biolink:Disease	thymic carcinoma	Thymic carcinoma (TC) is a type of thymic epithelial neoplasm characterized by a high malignant potential.	EFO:1000576|GARD:0011952|Orphanet:99868|UMLS:C1322286|UMLS:C0205969|MedDRA:10061031|NCIT:C7569|DOID:4554|ICDO:8586/3|SCTID:444374006|UMLS:CN207411|ONCOTREE:THYC|DOID:3284	mondo.json	malignant thymoma|thymoma, malignant|thymic carcinoma (excluding well differentiated thymic carcinoma)|THYC|thymic carcinoma|thymoma, type C (morphologic abnormality)|type C thymoma|thymic carcinoma excluding well differentiated thymic carcinoma|carcinoma of thymus|thymoma, type C|thymoma type C|thymus carcinoma|thymoma, malignant (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0006451	Orphanet:99868|DOID:4554|http://identifiers.org/snomedct/444374006|DOID:3284|UMLS:CN207411|NCIT:C7569|UMLS:C0205969|UMLS:C1322286	ordo_disease
MONDO:0006452	biolink:Disease	thymic sarcomatoid carcinoma	A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma.	EFO:1000577|NCIT:C6463|DOID:8138|UMLS:C1335924	mondo.json	sarcomatoid carcinoma of Thymus|sarcomatoid carcinoma of the Thymus|thymic spindle cell carcinoma|thymic carcinosarcoma|Thymus sarcomatoid carcinoma|thymic sarcomatoid carcinoma|thymus sarcomatoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0006452	UMLS:C1335924|NCIT:C6463|DOID:8138	
MONDO:0006450	biolink:Disease	therapy-related myeloid neoplasm	Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders.	EFO:1000575|NCIT:C27912|ONCOTREE:TMN|ICDO:9920/3	mondo.json	therapy-related acute myeloid leukemia and myelodysplastic syndrome|therapy-related myeloid neoplasms|therapy-related AML and MDS|therapy-related myeloid neoplasm|TMN|acute myeloid Leukaemias and myelodysplastic syndromes, therapy-related	http://purl.obolibrary.org/obo/MONDO_0006450	NCIT:C27912	
MONDO:0018448	biolink:Disease	clear cell papillary renal cell carcinoma	Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome.	SCTID:734015000|UMLS:C4518333|Orphanet:404511|ONCOTREE:CCPRC	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018448	http://identifiers.org/snomedct/734015000|UMLS:C4518333|Orphanet:404511	ordo_histopathological_subtype
NCBITaxon:9632	biolink:OrganismalEntity	Ursidae		GC_ID:1	mondo.json	bears	http://purl.obolibrary.org/obo/NCBITaxon_9632		
MONDO:0018447	biolink:Disease	chondromyxoid fibroma	An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain.	UMLS:C0221290|ICDO:9241/0|Orphanet:404507|EFO:0000332|NCIT:C3830	mondo.json	Chondromyxoid fibroma	http://purl.obolibrary.org/obo/MONDO_0018447	NCIT:C3830|UMLS:C0221290|Orphanet:404507	ordo_disease
MONDO:0018449	biolink:Disease	acquired cystic disease-associated renal cell carcinoma	Acquired cystic disease-associated renal cell carcinoma is a rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior.	UMLS:CN226194|Orphanet:404514	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018449	UMLS:CN226194|Orphanet:404514	ordo_disease
MONDO:0018444	biolink:Disease	obsolete female infertility due to fertilization defect		Orphanet:404469	mondo.json	rare female infertility due to oocyte maturation|rare female infertility due to oocyte maturation defect|female infertility due to fecundation defect	http://purl.obolibrary.org/obo/MONDO_0018444	Orphanet:404469	ordo_group_of_disorders
MONDO:0018443	biolink:Disease	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome		Orphanet:404451|UMLS:CN226185	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018443	UMLS:CN226185|Orphanet:404451	ordo_malformation_syndrome
MONDO:0018446	biolink:Disease	autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome		UMLS:CN226191|Orphanet:404481	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018446	UMLS:CN226191|Orphanet:404481	disease_grouping|ordo_group_of_disorders
MONDO:0018445	biolink:Disease	global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome		OMIM:618272|UMLS:CN226190|Orphanet:404476	mondo.json	GLOW syndrome, somatic mosaic|GLOW|global developmental delay, lung cysts, overgrowth, and wilms tumor|glow syndrome	http://purl.obolibrary.org/obo/MONDO_0018445	UMLS:CN226190|https://omim.org/entry/618272|Orphanet:404476	ordo_malformation_syndrome
MONDO:0018440	biolink:Disease	autosomal recessive distal renal tubular acidosis	Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.	Orphanet:402041|UMLS:C1864498	mondo.json	AR dRTA|autosomal recessive distal renal tubular acidosis (disease)|autosomal recessive distal RTA|distal renal tubular acidosis (disease), autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0018440	Orphanet:402041|UMLS:C1864498	ordo_clinical_subtype
MONDO:0018442	biolink:Disease	acitretin/etretinate embryopathy	Acitretin/Etretinate embryopathy is a teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.	GARD:0000468|Orphanet:40366|SCTID:725287006|UMLS:CN205049|MESH:C538169	mondo.json	Acitretine embryofetopathy|acitretin embryopathy|fetal acitretin/etretinate syndrome|fetal acitretin syndrome|acitretin embryofetopathy|retinoid embryopathy	http://purl.obolibrary.org/obo/MONDO_0018442	http://identifiers.org/mesh/C538169|http://identifiers.org/snomedct/725287006|UMLS:CN205049|Orphanet:40366	gard_rare|ordo_disease
MONDO:0018441	biolink:Disease	obsolete hepatitis delta			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018441		
MONDO:0006468	biolink:Disease	thyroid gland undifferentiated (anaplastic) carcinoma	A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive.	SCTID:255031003|Orphanet:142|DOID:0080522|HP:0011779|GARD:0000664|EFO:1000595|NCIT:C3878|ONCOTREE:THAP|MESH:D065646|MedDRA:10002240|UMLS:C0238461	mondo.json	anaplastic thyroid carcinoma|Dedifferentiated thyroid gland carcinoma|thyroid carcinoma, anaplastic|undifferentiated carcinoma of the thyroid gland|undifferentiated carcinoma of thyroid gland|anaplastic carcinoma of the thyroid gland|thyroid gland undifferentiated carcinoma|anaplastic carcinoma of thyroid gland|undifferentiated carcinoma of the thyroid|pleomorphic thyroid gland carcinoma|thyroid gland carcinosarcoma|undifferentiated carcinoma of thyroid|anaplastic carcinoma of the thyroid|anaplastic thyroid gland carcinoma|metaplastic thyroid gland carcinoma|anaplastic carcinoma of thyroid|undifferentiated thyroid gland carcinoma|THAP|undifferentiated (anaplastic) thyroid gland carcinoma|sarcomatoid thyroid gland carcinoma|thyroid gland undifferentiated (anaplastic) carcinoma|undifferentiated thyroid carcinoma|anaplastic thyroid cancer|undifferentiated (anaplastic) thyroid gland cancer|undifferentiated thyroid tumor|thyroid cancer, anaplastic	http://purl.obolibrary.org/obo/MONDO_0006468	UMLS:C0238461|NCIT:C3878|Orphanet:142|DOID:0080522|http://identifiers.org/mesh/D065646|http://identifiers.org/snomedct/255031003	gard_rare|ordo_disease
MONDO:0006469	biolink:Disease	tibial adamantinoma	An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases).	EFO:1000596|UMLS:C1273017|NCIT:C8461|DOID:6322|SCTID:281702006	mondo.json	adamantinoma of tibia|tibia adamantinoma|tibial adamantinoma morphology|tibia long bone adamantinoma|tibial adamantinoma	http://purl.obolibrary.org/obo/MONDO_0006469	DOID:6322|NCIT:C8461|http://identifiers.org/snomedct/281702006|UMLS:C1273017	
MONDO:0006466	biolink:Disease	thyroid gland spindle cell tumor with thymus-like differentiation	A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells.	UMLS:C1266099|DOID:0050923|EFO:1000593|NCIT:C46105|ICDO:8588/3	mondo.json	spindle epithelial tumor with thymus-like differentiation tumor|settle|settle tumor	http://purl.obolibrary.org/obo/MONDO_0006466	UMLS:C1266099|NCIT:C46105|DOID:0050923	
MONDO:0006467	biolink:Disease	thyroid gland squamous cell carcinoma	A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive.	UMLS:C1710177|EFO:1000594|NCIT:C46008	mondo.json	thyroid gland squamous cell carcinoma|squamous cell thyroid gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0006467	NCIT:C46008|UMLS:C1710177	
MONDO:0006464	biolink:Disease	thyroid gland mucosa-associated lymphoid tissue lymphoma	An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis.	NCIT:C7601|EFO:1000591|UMLS:C1336754	mondo.json	thyroid MALT lymphoma|thyroid mucosa-associated lymphoid tissue lymphoma	http://purl.obolibrary.org/obo/MONDO_0006464	NCIT:C7601|UMLS:C1336754	
CHEBI:83822	biolink:ChemicalSubstance	non-proteinogenic L-alpha-amino acid	Any L-alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.		mondo.json	non-proteinogenic L-alpha-amino acids	http://purl.obolibrary.org/obo/CHEBI_83822		
CHEBI:83821	biolink:ChemicalSubstance	amino acid derivative	Any derivative of an amino acid resulting from reaction at an amino group, carboxy group, side-chain functional group, or from the replacement of any hydrogen by a heteroatom. The definition normally excludes peptides containing amino acid residues.		mondo.json	modified amino acids|amino acid derivatives	http://purl.obolibrary.org/obo/CHEBI_83821		
MONDO:0006465	biolink:Disease	thyroid gland oncocytic follicular carcinoma	A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent.	EFO:1000592|NCIT:C4946	mondo.json	Hurthle cell thyroid gland carcinoma|thyroid Hurthle cell carcinoma|thyroid gland Hurthle cell carcinoma|oncocytic carcinoma of the thyroid|thyroid oncocytic carcinoma|oncocytic carcinoma of thyroid|Hurthle cell carcinoma of the thyroid gland|Hurthle cell carcinoma of thyroid gland|Hurthle cell carcinoma of the thyroid|Hurthle cell carcinoma of thyroid	http://purl.obolibrary.org/obo/MONDO_0006465	NCIT:C4946	
MONDO:0006462	biolink:Disease	thyroid gland diffuse large B-cell lymphoma	A diffuse large B-cell lymphoma primarily involving the thyroid gland.	UMLS:C1336749|EFO:1000587|NCIT:C6046	mondo.json	thyroid gland diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of the thyroid gland|primary thyroid gland diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of thyroid gland|diffuse large B-cell lymphoma of the thyroid|diffuse large B-cell lymphoma of thyroid|thyroid diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0006462	NCIT:C6046|UMLS:C1336749	
CHEBI:83820	biolink:ChemicalSubstance	non-proteinogenic amino acid	Any amino-acid that is not naturally encoded in the genetic code of any organism.		mondo.json	non-coded amino acids|non-canonical amino acid|non-canonical amino-acids|non-canonical amino-acid|non-canonical amino acids|non-coded amino acid|non-proteinogenic amino-acids|non-coded amino-acid|non-proteinogenic amino acids|non-coded amino-acids|non-proteinogenic amino-acid	http://purl.obolibrary.org/obo/CHEBI_83820		
NCBITaxon:9639	biolink:OrganismalEntity	Ursus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_9639		
FOODON:00002373	biolink:NamedThing	food product by meal type	A meal type is the name of an eating occasion that may have location, food type, or other customary contextual features. (Damion's 1st draft definition)		mondo.json		http://purl.obolibrary.org/obo/FOODON_00002373		
MONDO:0006463	biolink:Disease	thyroid gland mucoepidermoid carcinoma	A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent.	DOID:4687|UMLS:C1513721|EFO:1000590|NCIT:C38762	mondo.json	mucoepidermoid thyroid gland carcinoma|mucoepidermoid thyroid carcinoma|thyroid gland mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0006463	UMLS:C1513721|DOID:4687|NCIT:C38762	
MONDO:0006460	biolink:Disease	thyroglossal duct cyst	A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck.	EFO:1000585|SCTID:39462005|Orphanet:489|ICD9:759.2|MESH:D013955	mondo.json	thyroglossal tract cyst	http://purl.obolibrary.org/obo/MONDO_0006460	Orphanet:489|http://identifiers.org/mesh/D013955|http://identifiers.org/snomedct/39462005	
MONDO:0006461	biolink:Disease	obsolete thyroid gland carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006461		
HP:0003398	biolink:PhenotypicFeature	Abnormal synaptic transmission at the neuromuscular junction	Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers.	UMLS:C4025618|UMLS:C4020842	mondo.json	Abnormality of neuromuscular transmission	http://purl.obolibrary.org/obo/HP_0003398		
MONDO:0018437	biolink:Disease	acute myeloid leukemia with NPM1 somatic mutations	Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy.	SCTID:763309005|Orphanet:402026	mondo.json	AML with NPM1 somatic mutations	http://purl.obolibrary.org/obo/MONDO_0018437	Orphanet:402026|http://identifiers.org/snomedct/763309005	ordo_disease
MONDO:0018436	biolink:Disease	megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)	Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease.	Orphanet:402023|SCTID:763796007	mondo.json	megakaryoblastic AML with t(1;22)(p13;q13)	http://purl.obolibrary.org/obo/MONDO_0018436	Orphanet:402023|http://identifiers.org/snomedct/763796007	ordo_disease
MONDO:0018439	biolink:Disease	eosinophilic colitis	Inflammation of the colon that is characterized by eosinic infiltration.	NCIT:C27053|Orphanet:402035|ICD9:558.42|ICD10CM:K52.82|UMLS:C0267448|SCTID:29120000	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018439	Orphanet:402035|UMLS:C0267448|http://purl.bioontology.org/ontology/ICD10CM/K52.82|http://identifiers.org/snomedct/29120000|NCIT:C27053	ordo_disease
MONDO:0018438	biolink:Disease	eosinophilic gastrointestinal disease		UMLS:CN226154|Orphanet:402029	mondo.json	primary eosinophilic gastrointestinal disease|EGID	http://purl.obolibrary.org/obo/MONDO_0018438	Orphanet:402029|UMLS:CN226154	ordo_group_of_disorders|disease_grouping
MONDO:0018433	biolink:Disease	acute myeloid leukemia with t(6;9)(p23;q34)	Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported.	Orphanet:402014	mondo.json	AML with t(6;9)(p23;q34)	http://purl.obolibrary.org/obo/MONDO_0018433	Orphanet:402014	ordo_disease
MONDO:0018432	biolink:Disease	lichen myxedematosus		Orphanet:402007|ICD9:701.8|SCTID:111197009	mondo.json	lichen myxoedematosus|papular mucinosis|lichenoid myxedema	http://purl.obolibrary.org/obo/MONDO_0018432	http://identifiers.org/snomedct/111197009|Orphanet:402007	disease_grouping|ordo_group_of_disorders
MONDO:0018435	biolink:Disease	acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)	Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.	GARD:0012759|Orphanet:402020	mondo.json	AML with inv3(q21;q26.2) or t(3;3)(q21;q26.2)|AML with inv3(p21;q26.2) or t(3;3)(p21;q26.2)|acute myeloid leukemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2)	http://purl.obolibrary.org/obo/MONDO_0018435	Orphanet:402020	ordo_disease|gard_rare
MONDO:0018434	biolink:Disease	acute myeloid leukemia with t(9;11)(p22;q23)		Orphanet:402017	mondo.json	AML with t(9;11)(p22;q23)	http://purl.obolibrary.org/obo/MONDO_0018434	Orphanet:402017	ordo_disease
MONDO:0018431	biolink:Disease	cold-induced sweating syndrome - hyperthermia spectrum		UMLS:CN226150|Orphanet:401993	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018431	UMLS:CN226150|Orphanet:401993	ordo_group_of_disorders|ordo_inheritance_inconsistent|disease_grouping
MONDO:0018430	biolink:Disease	partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome	A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.	Orphanet:401959|UMLS:CN226145	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018430	Orphanet:401959|UMLS:CN226145	ordo_malformation_syndrome
MONDO:0006439	biolink:Disease	obsolete syringocystadenoma papilliferum			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006439		
NCBITaxon:69826	biolink:OrganismalEntity	Ornithodoros savignyi		GC_ID:1	mondo.json	Argas savignyi	http://purl.obolibrary.org/obo/NCBITaxon_69826		
MONDO:0006437	biolink:Disease	obsolete superficial fibromatosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006437		
MONDO:0006438	biolink:Disease	synovial chondromatosis	Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common.	MESH:D015838|EFO:1000557|GARD:0006054|NCIT:C34467|UMLS:C0008476	mondo.json	Henderson-Jones syndrome|Reichel's syndrome|synovial osteochondromatosis	http://purl.obolibrary.org/obo/MONDO_0006438	http://identifiers.org/mesh/D015838|NCIT:C34467|UMLS:C0008476	gard_rare
UBERON:0039222	biolink:AnatomicalEntity	cystic artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0039222		
MONDO:0006435	biolink:Disease	submandibular gland adenocarcinoma	An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma.	UMLS:C1336521|NCIT:C5940|EFO:1000554	mondo.json	submandibular gland adenocarcinoma|adenocarcinoma of the submandibular gland|adenocarcinoma of submandibular gland	http://purl.obolibrary.org/obo/MONDO_0006435	UMLS:C1336521|NCIT:C5940	
MONDO:0006436	biolink:Disease	submandibular gland adenoid cystic carcinoma	An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.	SCTID:423189008|NCIT:C5935|EFO:1000555|UMLS:C1336522	mondo.json	submandibular gland adenoid cystic carcinoma|adenoid cystic carcinoma of the submandibular gland|adenoid cystic carcinoma of submandibular gland	http://purl.obolibrary.org/obo/MONDO_0006436	http://identifiers.org/snomedct/423189008|UMLS:C1336522|NCIT:C5935	
MONDO:0006433	biolink:Disease	obsolete subcutaneous panniculitis-like T-cell lymphoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006433		
MONDO:0006434	biolink:Disease	obsolete Subependymoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006434		
NCBITaxon:9604	biolink:OrganismalEntity	Hominidae		GC_ID:1	mondo.json	great apes|Pongidae	http://purl.obolibrary.org/obo/NCBITaxon_9604		
MONDO:0006431	biolink:Disease	obsolete splenic marginal zone lymphoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006431		
NCBITaxon:9605	biolink:OrganismalEntity	Homo		GC_ID:1	mondo.json	humans	http://purl.obolibrary.org/obo/NCBITaxon_9605		
MONDO:0006432	biolink:Disease	stromal predominant kidney Wilms tumor	Wilms tumor of the kidney characterized by the predominance of the mesenchymal component.	NCIT:C9148|DOID:5191|EFO:1000551|UMLS:C0279610	mondo.json	stromal predominant kidney Wilms' tumor|stromal predominant Wilms tumor|stromal predominant renal Wilm's tumor|stromal predominant nephroblastoma|stromal predominant renal Wilms' tumor|stromal predominant renal Wilms tumor|stromal predominant kidney adenosarcoma|stromal predominant kidney Wilms tumor|stromal predominant renal adenosarcoma	http://purl.obolibrary.org/obo/MONDO_0006432	NCIT:C9148|DOID:5191|UMLS:C0279610	
NCBITaxon:9606	biolink:OrganismalEntity	Homo sapiens		GC_ID:1	mondo.json	human|man	http://purl.obolibrary.org/obo/NCBITaxon_9606		
MONDO:0006430	biolink:Disease	splenic mantle cell lymphoma	A mantle cell lymphoma occurring in the spleen.	EFO:1000549|UMLS:C2018777|NCIT:C7306	mondo.json	splenic mantle cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0006430	UMLS:C2018777|NCIT:C7306	
NCBITaxon:9608	biolink:OrganismalEntity	Canidae		GC_ID:1	mondo.json	dog, coyote, wolf, fox	http://purl.obolibrary.org/obo/NCBITaxon_9608		
FOODON:00002381	biolink:NamedThing	food product by organism	A food product consisting of food material derived primarily from a single organism.		mondo.json		http://purl.obolibrary.org/obo/FOODON_00002381		
UBERON:0039228	biolink:AnatomicalEntity	sigmoid vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0039228		
MONDO:0018429	biolink:Disease	14q24.1q24.3 microdeletion syndrome		UMLS:CN226142|Orphanet:401935	mondo.json	monosomy 14q24.1q24.3|Del(14)(q24.1q24.3)	http://purl.obolibrary.org/obo/MONDO_0018429	Orphanet:401935|UMLS:CN226142	ordo_malformation_syndrome
HP:0003367	biolink:PhenotypicFeature	Abnormal femoral neck morphology	An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).	UMLS:C4025621	mondo.json	Abnormality of the femoral neck|Abnormal neck of thigh bone	http://purl.obolibrary.org/obo/HP_0003367		
HP:0030956	biolink:PhenotypicFeature	Abnormality of cardiovascular system electrophysiology	An anomaly of the electrical conduction physiology of the heart.		mondo.json		http://purl.obolibrary.org/obo/HP_0030956		
HP:0003366	biolink:PhenotypicFeature	Abnormal femoral neck/head morphology		UMLS:C4025622	mondo.json	Abnormality of the femoral neck or head region|Abnormal neck or head of thigh bone	http://purl.obolibrary.org/obo/HP_0003366		
MONDO:0018426	biolink:Disease	AXIN2-related attenuated familial adenomatous polyposis		Orphanet:401911|UMLS:CN226139	mondo.json	AXIN2-related AFAP|AXIN2-related attenuated FAP|AXIN2-related attenuated familial polyposis coli	http://purl.obolibrary.org/obo/MONDO_0018426	UMLS:CN226139|Orphanet:401911	ordo_clinical_subtype
MONDO:0018425	biolink:Disease	Huntington disease-like syndrome due to C9ORF72 expansions		Orphanet:401901|UMLS:CN226138	mondo.json	C9ORF72-related Huntington disease phenocopy|Huntington disease phenocopy due to C9ORF72 expansions|C9ORF72-related Huntington disease-like syndrome	http://purl.obolibrary.org/obo/MONDO_0018425	Orphanet:401901|UMLS:CN226138	ordo_disease
MONDO:0018428	biolink:Disease	9q31.1q31.3 microdeletion syndrome		UMLS:CN226140|Orphanet:401923	mondo.json	Del(9)(q31.1q31.3)|monosomy 9q31.1q31.3	http://purl.obolibrary.org/obo/MONDO_0018428	UMLS:CN226140|Orphanet:401923	ordo_malformation_syndrome
NCBITaxon:9611	biolink:OrganismalEntity	Canis		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_9611		
NCBITaxon:9612	biolink:OrganismalEntity	Canis lupus		GC_ID:1	mondo.json	gray wolf|grey wolf	http://purl.obolibrary.org/obo/NCBITaxon_9612		
MONDO:0018427	biolink:Disease	obsolete fibrolamellar carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018427		
MONDO:0018422	biolink:Disease	autosomal recessive spastic paraplegia type 70	Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.	UMLS:CN226129|Orphanet:401835	mondo.json	SPG70	http://purl.obolibrary.org/obo/MONDO_0018422	UMLS:CN226129|Orphanet:401835	ordo_disease
MONDO:0018421	biolink:Disease	autosomal recessive spastic paraplegia type 69		UMLS:CN226128|Orphanet:401830	mondo.json	SPG69	http://purl.obolibrary.org/obo/MONDO_0018421	Orphanet:401830|UMLS:CN226128	ordo_disease
MONDO:0018424	biolink:Disease	inherited lipoic acid biosynthesis defect	An inherited metabolic disease that is has its basis in the disruption of lipoate biosynthetic process.	GARD:0012679|Orphanet:401854	mondo.json	rare inborn error of lipoate biosynthetic process|inborn lipoate biosynthetic process disorder|lipoate biosynthesis defect|lipoic acid biosynthesis defect|inborn error of lipoate biosynthetic process|lipoic acid biosynthesis defects	http://purl.obolibrary.org/obo/MONDO_0018424	Orphanet:401854	disease_grouping|ordo_group_of_disorders
MONDO:0018423	biolink:Disease	autosomal recessive spastic paraplegia type 71		UMLS:CN226130|Orphanet:401840	mondo.json	SPG71	http://purl.obolibrary.org/obo/MONDO_0018423	UMLS:CN226130|Orphanet:401840	ordo_disease
MONDO:0018420	biolink:Disease	autosomal recessive spastic paraplegia type 68		Orphanet:401825|UMLS:CN226127	mondo.json	SPG68	http://purl.obolibrary.org/obo/MONDO_0018420	UMLS:CN226127|Orphanet:401825	ordo_disease
OBO:ECTO_0001108	biolink:NamedThing	exposure to aflatoxin	An exposure to aflatoxin.		mondo.json	exposure to aflatoxin	http://purl.obolibrary.org/obo/ECTO_0001108		
MONDO:0006448	biolink:Disease	obsolete testicular teratoma (disease)			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006448		
UBERON:0015281	biolink:AnatomicalEntity	pancreas right lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015281		
UBERON:0015280	biolink:AnatomicalEntity	pancreas left lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015280		
MONDO:0006449	biolink:Disease	obsolete testicular yolk sac tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006449		
MONDO:0006446	biolink:Disease	testicular embryonal carcinoma	A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent.	UMLS:C0238448|DOID:5680|EFO:1000565|NCIT:C6341	mondo.json	testis embryonal carcinoma|embryonal carcinoma of testis|testicular embryonal carcinoma|embryonal carcinoma of the testis|embryonal testis carcinoma	http://purl.obolibrary.org/obo/MONDO_0006446	UMLS:C0238448|DOID:5680|NCIT:C6341	
MONDO:0006447	biolink:Disease	testicular non-seminomatous germ cell tumor	A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms.	UMLS:C1336724|DOID:4086|UMLS:CN204702|NCIT:C9313|EFO:1000570|ICDO:9065/3|Orphanet:363494	mondo.json	non-seminomatous germ cell tumor of testis|testicular germ cell tumor non-seminomatous|testicular non-dysgerminomatous germ cell tumor|testicular non seminomatous germ cell tumor|testicular non-seminomatous germ cell tumor|non-dysgerminomatous germ cell tumor of testis	http://purl.obolibrary.org/obo/MONDO_0006447	UMLS:C1336724|UMLS:CN204702|NCIT:C9313|Orphanet:363494|DOID:4086	ordo_disease
MONDO:0006444	biolink:Disease	teratoma with malignant transformation	A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous.	NCIT:C4289|ICDO:9084/3|GARD:0010646|ONCOTREE:TMT|EFO:1000563|UMLS:C0334523	mondo.json	dermoid cyst with malignant transformation|teratoma with malignant transformation|TMT	http://purl.obolibrary.org/obo/MONDO_0006444	NCIT:C4289|UMLS:C0334523	gard_rare
MONDO:0006445	biolink:Disease	obsolete testicular choriocarcinoma	OBSOLETE. A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0006445		
MONDO:0006442	biolink:Disease	tendon sheath fibroma	A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation.	SCTID:403992002|NCIT:C6485|UMLS:C1275236|EFO:1000561|ICD9:215.9	mondo.json	fibroma of the tendon sheath|fibroma of tendon sheath|tendon sheath fibroma	http://purl.obolibrary.org/obo/MONDO_0006442	http://identifiers.org/snomedct/403992002|NCIT:C6485|UMLS:C1275236	
NCBITaxon:9615	biolink:OrganismalEntity	Canis lupus familiaris		GC_ID:1	mondo.json	dog|Canis familiaris|Canis canis|dogs|Canis domesticus	http://purl.obolibrary.org/obo/NCBITaxon_9615		
MONDO:0006443	biolink:Disease	obsolete tenosynovial giant cell tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006443		
MONDO:0006440	biolink:Disease	obsolete systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006440		
MONDO:0006441	biolink:Disease	obsolete T-cell prolymphocytic leukemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006441		
MONDO:0018419	biolink:Disease	autosomal recessive spastic paraplegia type 67	Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.	Orphanet:401820|SCTID:766767001|UMLS:CN226126	mondo.json	SPG67	http://purl.obolibrary.org/obo/MONDO_0018419	http://identifiers.org/snomedct/766767001|UMLS:CN226126|Orphanet:401820	ordo_disease
MONDO:0018418	biolink:Disease	autosomal recessive spastic paraplegia type 66		UMLS:CN226125|Orphanet:401815	mondo.json	SPG66	http://purl.obolibrary.org/obo/MONDO_0018418	Orphanet:401815|UMLS:CN226125	ordo_disease
MONDO:0018415	biolink:Disease	obsolete hymenolepiasis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018415		
HP:0030962	biolink:PhenotypicFeature	Abnormal morphology of the great vessels	A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta.		mondo.json		http://purl.obolibrary.org/obo/HP_0030962		
MONDO:0018414	biolink:Disease	obsolete female infertility due to an implantation defect of genetic origin		ICD10CM:N97.2|Orphanet:400025	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018414	Orphanet:400025	ordo_group_of_disorders
MONDO:0018417	biolink:Disease	autosomal recessive spastic paraplegia type 60		UMLS:CN226122|Orphanet:401800	mondo.json	SPG60	http://purl.obolibrary.org/obo/MONDO_0018417	UMLS:CN226122|Orphanet:401800	ordo_disease
MONDO:0018416	biolink:Disease	autosomal recessive spastic paraplegia type 59		Orphanet:401795|UMLS:CN226121	mondo.json	SPG59	http://purl.obolibrary.org/obo/MONDO_0018416	UMLS:CN226121|Orphanet:401795	ordo_disease
MONDO:0018411	biolink:Disease	obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	OBSOLETE. An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome.	Orphanet:400011|UMLS:CN227354	mondo.json	rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin|genetic rare female infertility due to hypothalamic-pituitary-gonadal axis disorder|rare female infertility due to gonadotropic axis disorder of genetic origin	http://purl.obolibrary.org/obo/MONDO_0018411	Orphanet:400011|UMLS:CN227354	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
NCBITaxon:31245	biolink:OrganismalEntity	Schistosomatidae		GC_ID:1	mondo.json	blood flukes	http://purl.obolibrary.org/obo/NCBITaxon_31245		
MONDO:0018410	biolink:Disease	obsolete rare genetic female infertility		UMLS:CN227353|Orphanet:400008	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018410	Orphanet:400008|UMLS:CN227353	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0018413	biolink:Disease	obsolete female infertility due to an anomaly of ovarian function of genetic origin		Orphanet:400022|UMLS:CN227356	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018413	Orphanet:400022|UMLS:CN227356	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0018412	biolink:Disease	obsolete rare female infertility due to adrenal disorder of genetic origin		Orphanet:400018|UMLS:CN227355	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018412	Orphanet:400018|UMLS:CN227355	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
NCBITaxon:31244	biolink:OrganismalEntity	Schistosomatoidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_31244		
GO:0043170	biolink:NamedThing	macromolecule metabolic process	The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass.		mondo.json	multicellular organismal macromolecule metabolic process|organismal macromolecule metabolism|biopolymer metabolic process|macromolecule metabolism	http://purl.obolibrary.org/obo/GO_0043170		
NCBITaxon:116926	biolink:OrganismalEntity	Philophthalmidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_116926		
NCBITaxon:116925	biolink:OrganismalEntity	Troglotremata		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_116925		
GO:0043177	biolink:NamedThing	organic acid binding	Binding to an organic acid, any acidic compound containing carbon in covalent linkage.		mondo.json		http://purl.obolibrary.org/obo/GO_0043177		
UBERON:0005870	biolink:AnatomicalEntity	olfactory pit			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005870		
UBERON:0003216	biolink:AnatomicalEntity	hard palate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003216		
UBERON:0005879	biolink:AnatomicalEntity	pharyngeal cleft			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005879		
UBERON:0003214	biolink:AnatomicalEntity	mammary gland alveolus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003214		
UBERON:0003215	biolink:AnatomicalEntity	alveolus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003215		
UBERON:0005876	biolink:AnatomicalEntity	undifferentiated genital tubercle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005876		
UBERON:0003212	biolink:AnatomicalEntity	gustatory organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003212		
UBERON:0005875	biolink:AnatomicalEntity	4th arch pharyngeal cleft			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005875		
UBERON:0005874	biolink:AnatomicalEntity	3rd arch pharyngeal cleft			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005874		
UBERON:0005873	biolink:AnatomicalEntity	2nd arch pharyngeal cleft			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005873		
UBERON:0005872	biolink:AnatomicalEntity	1st arch pharyngeal cleft			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005872		
OBI:0000833	biolink:NamedThing	objective_achieved_by	This relation obtains between a a objective specification and a planned process when the criteria specified in the objective specification are met at the end of the planned process.		mondo.json		http://purl.obolibrary.org/obo/OBI_0000833		
NCBITaxon:9682	biolink:OrganismalEntity	Felis		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_9682		
NCBITaxon:9685	biolink:OrganismalEntity	Felis catus		PMID:17600185|PMID:8603894|PMID:8581300|GC_ID:1	mondo.json	domestic cat|cats|Felis domesticus|Felis silvestris catus|cat	http://purl.obolibrary.org/obo/NCBITaxon_9685		
UBERON:0005868	biolink:AnatomicalEntity	maxillary prominence			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005868		
UBERON:0005867	biolink:AnatomicalEntity	mandibular prominence			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005867		
UBERON:0005866	biolink:AnatomicalEntity	pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005866		
UBERON:0005865	biolink:AnatomicalEntity	pre-muscle condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005865		
UBERON:0005863	biolink:AnatomicalEntity	cartilaginous condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005863		
NCBITaxon:9681	biolink:OrganismalEntity	Felidae		GC_ID:1	mondo.json	cat family	http://purl.obolibrary.org/obo/NCBITaxon_9681		
GO:0080135	biolink:NamedThing	regulation of cellular response to stress	Any process that modulates the frequency, rate or extent of a cellular response to stress. Cellular response to stress is a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation).		mondo.json		http://purl.obolibrary.org/obo/GO_0080135		
GO:0080134	biolink:NamedThing	regulation of response to stress	Any process that modulates the frequency, rate or extent of a response to stress. Response to stress is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation).		mondo.json		http://purl.obolibrary.org/obo/GO_0080134		
NCBITaxon:9655	biolink:OrganismalEntity	Mustelidae		GC_ID:1|PMID:18275614|PMID:14745111	mondo.json	weasel, mink, badger, martens and others	http://purl.obolibrary.org/obo/NCBITaxon_9655		
HGNC:1402	biolink:NamedThing	CACNB2			mondo.json		http://identifiers.org/hgnc/1402		
UBERON:0005856	biolink:AnatomicalEntity	developing mesenchymal condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005856		
UBERON:0005855	biolink:AnatomicalEntity	lumbar spinal cord ventral column			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005855		
UBERON:0005854	biolink:AnatomicalEntity	cervical spinal cord ventral column			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005854		
UBERON:0005853	biolink:AnatomicalEntity	sacral spinal cord ventral column			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005853		
UBERON:0005852	biolink:AnatomicalEntity	thoracic spinal cord ventral column			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005852		
CHEBI:46883	biolink:ChemicalSubstance	carboxy group			mondo.json	-CO2H|carboxyl group|carboxy|CARBOXY GROUP|-C(O)OH|-COOH	http://purl.obolibrary.org/obo/CHEBI_46883		
UBERON:0005838	biolink:AnatomicalEntity	fasciculus of brain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005838		
HGNC:1406	biolink:NamedThing	CACNG2			mondo.json		http://identifiers.org/hgnc/1406		
UBERON:0005837	biolink:AnatomicalEntity	fasciculus of spinal cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005837		
HGNC:1404	biolink:NamedThing	CACNB4			mondo.json		http://identifiers.org/hgnc/1404		
HP:0005912	biolink:PhenotypicFeature	Biliary atresia	Atresia of the biliary tree.	MSH:D001656|SNOMEDCT_US:82821008|SNOMEDCT_US:77480004|UMLS:C0005411	mondo.json	Biliary duct atresia	http://purl.obolibrary.org/obo/HP_0005912		
UBERON:0005845	biolink:AnatomicalEntity	caudal segment of spinal cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005845		
UBERON:0005844	biolink:AnatomicalEntity	spinal cord segment			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005844		
UBERON:0005843	biolink:AnatomicalEntity	sacral spinal cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005843		
NCBITaxon:31286	biolink:OrganismalEntity	Trypanosoma brucei rhodesiense		GC_ID:1	mondo.json	Trypanosoma brucei subsp. rhodesiense|Trypanosoma (Trypanozoon) brucei rhodesiense	http://purl.obolibrary.org/obo/NCBITaxon_31286		
NCBITaxon:31285	biolink:OrganismalEntity	Trypanosoma brucei gambiense		GC_ID:1	mondo.json	Trypanosoma gambiense|Trypanosoma brucei subsp. gambiense|Trypanosoma (Trypanozoon) brucei gambiense	http://purl.obolibrary.org/obo/NCBITaxon_31285		
UBERON:0015238	biolink:AnatomicalEntity	pineal complex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015238		
HP:0003307	biolink:PhenotypicFeature	Hyperlordosis	Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.	UMLS:C0024003|SNOMEDCT_US:249710008|MSH:D008141|SNOMEDCT_US:61960001	mondo.json	Prominent swayback|Lordosis	http://purl.obolibrary.org/obo/HP_0003307		hposlim_core
GO:0080154	biolink:NamedThing	regulation of fertilization	Any process that modulates the rate, frequency or extent of fertilization. Fertilization is the union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy).		mondo.json		http://purl.obolibrary.org/obo/GO_0080154		
UBERON:0003252	biolink:AnatomicalEntity	thoracic rib cage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003252		
UBERON:0003253	biolink:AnatomicalEntity	neck of rib			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003253		
HGNC:1424	biolink:NamedThing	CAD			mondo.json		http://identifiers.org/hgnc/1424		
UBERON:0003258	biolink:AnatomicalEntity	endoderm of foregut			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003258		
HGNC:1421	biolink:NamedThing	SLC25A20			mondo.json		http://identifiers.org/hgnc/1421		
UBERON:0003259	biolink:AnatomicalEntity	endoderm of midgut			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003259		
UBERON:0003257	biolink:AnatomicalEntity	yolk sac endoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003257		
UBERON:0003254	biolink:AnatomicalEntity	amniotic ectoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003254		
UBERON:0015228	biolink:AnatomicalEntity	circulatory organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015228		
GO:0080144	biolink:NamedThing	amino acid homeostasis	Any process involved in the maintenance of an internal steady state of amino acid within an organism or cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0080144		
GO:0080145	biolink:NamedThing	cysteine homeostasis	Any process involved in the maintenance of an internal steady state of cysteine within an organism or cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0080145		
HP:0003312	biolink:PhenotypicFeature	Abnormal form of the vertebral bodies	Abnormal morphology of vertebral body.	UMLS:C1839326	mondo.json	Abnormally shaped vertebrae	http://purl.obolibrary.org/obo/HP_0003312		
UBERON:0003249	biolink:AnatomicalEntity	epithelium of otic placode			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003249		
UBERON:0003247	biolink:AnatomicalEntity	epithelium of forearm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003247		
UBERON:0003248	biolink:AnatomicalEntity	epithelium of footplate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003248		
UBERON:0003246	biolink:AnatomicalEntity	epithelium of endolymphatic sac			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003246		
UBERON:0003244	biolink:AnatomicalEntity	epithelium of mammary gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003244		
CHEBI:22881	biolink:ChemicalSubstance	biopterins			mondo.json		http://purl.obolibrary.org/obo/CHEBI_22881		
UBERON:0003229	biolink:AnatomicalEntity	epithelium of elbow			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003229		
UBERON:0015215	biolink:AnatomicalEntity	median arcuate ligament			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015215		
UBERON:0015212	biolink:AnatomicalEntity	lateral structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015212		
UBERON:0015214	biolink:AnatomicalEntity	arcuate ligament			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015214		
UBERON:0003230	biolink:AnatomicalEntity	epithelium of carpal region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003230		
UBERON:0005893	biolink:AnatomicalEntity	leg bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005893		
UBERON:0003231	biolink:AnatomicalEntity	epithelium of hip			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003231		
UBERON:0005891	biolink:AnatomicalEntity	coelomic epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005891		
NCBITaxon:2572558	biolink:OrganismalEntity	Ancylostomatoidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2572558		
HGNC:1445	biolink:NamedThing	CALM2			mondo.json		http://identifiers.org/hgnc/1445		
UBERON:0005899	biolink:AnatomicalEntity	pes bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005899		
UBERON:0003236	biolink:AnatomicalEntity	epithelium of lower jaw			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003236		
UBERON:0005897	biolink:AnatomicalEntity	manus bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005897		
HGNC:1442	biolink:NamedThing	CALM1			mondo.json		http://identifiers.org/hgnc/1442		
UBERON:0003235	biolink:AnatomicalEntity	epithelium of upper jaw			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003235		
UBERON:0003232	biolink:AnatomicalEntity	epithelium of knee			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003232		
UBERON:0003233	biolink:AnatomicalEntity	epithelium of shoulder			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003233		
HGNC:1440	biolink:NamedThing	CALCR			mondo.json		http://identifiers.org/hgnc/1440		
NCBITaxon:2559587	biolink:OrganismalEntity	Riboviria		GC_ID:1	mondo.json	RNA viruses|RNA viruses and viroids	http://purl.obolibrary.org/obo/NCBITaxon_2559587		
UBERON:0003218	biolink:AnatomicalEntity	ovary septum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003218		
UBERON:0003220	biolink:AnatomicalEntity	metanephric mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003220		
UBERON:0005881	biolink:AnatomicalEntity	autopodial extension			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005881		
HGNC:1455	biolink:NamedThing	CALR			mondo.json		http://identifiers.org/hgnc/1455		
UBERON:0003221	biolink:AnatomicalEntity	phalanx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003221		
UBERON:0005884	biolink:AnatomicalEntity	hyoid arch skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005884		
MONDO:0043283	biolink:Disease	silicosiderosis		EFO:1001855|SCTID:34004002|UMLS:C0018929|GARD:0008372|MESH:C537337	mondo.json	hematite pneumoconiosis|iron miners lung|hematite miners' lung disease|siderosilicosis|silicosiderosis	http://purl.obolibrary.org/obo/MONDO_0043283	UMLS:C0018929|http://identifiers.org/snomedct/34004002|http://identifiers.org/mesh/C537337	gard_rare
GO:0031348	biolink:NamedThing	negative regulation of defense response	Any process that stops, prevents, or reduces the frequency, rate or extent of a defense response.		mondo.json	downregulation of defense response|down regulation of defense response|inhibition of defense response|down-regulation of defense response	http://purl.obolibrary.org/obo/GO_0031348		
HGNC:18194	biolink:NamedThing	ZNF365			mondo.json		http://identifiers.org/hgnc/18194		
GO:0031349	biolink:NamedThing	positive regulation of defense response	Any process that activates or increases the frequency, rate or extent of a defense response.		mondo.json	up regulation of defense response|stimulation of defense response|up-regulation of defense response|activation of defense response|upregulation of defense response	http://purl.obolibrary.org/obo/GO_0031349		
MONDO:0043280	biolink:Disease	Wallerian degeneration	A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber's axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs and symptoms include muscle weakness, altered sensation, and limb numbness.	NCIT:C85223|MESH:D014855|GARD:0007875	mondo.json	Degeneration, Wallerian|Wallerian Degeneration|Wallerian degeneration of the pyramidal tract	http://purl.obolibrary.org/obo/MONDO_0043280	http://identifiers.org/mesh/D014855|NCIT:C85223	gard_rare
GO:0031346	biolink:NamedThing	positive regulation of cell projection organization	Any process that activates or increases the frequency, rate or extent of the process involved in the formation, arrangement of constituent parts, or disassembly of cell projections.		mondo.json	positive regulation of cell projection organisation|upregulation of cell projection organization|positive regulation of cell projection organization and biogenesis|up regulation of cell projection organization|stimulation of cell projection organization|up-regulation of cell projection organization|activation of cell projection organization	http://purl.obolibrary.org/obo/GO_0031346		
GO:0031347	biolink:NamedThing	regulation of defense response	Any process that modulates the frequency, rate or extent of a defense response.		mondo.json		http://purl.obolibrary.org/obo/GO_0031347		
NCBITaxon:2560547	biolink:OrganismalEntity	La Crosse orthobunyavirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2560547		
GO:0045995	biolink:NamedThing	regulation of embryonic development	Any process that modulates the frequency, rate or extent of embryonic development.		mondo.json		http://purl.obolibrary.org/obo/GO_0045995		
GO:0045992	biolink:NamedThing	negative regulation of embryonic development	Any process that stops, prevents, or reduces the frequency, rate or extent of embryonic development.		mondo.json	down regulation of embryonic development|downregulation of embryonic development|inhibition of embryonic development|down-regulation of embryonic development	http://purl.obolibrary.org/obo/GO_0045992		
MONDO:0043287	biolink:Disease	superior vena cava syndrome	Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache.	SCTID:63363004|MESH:D013479|GARD:0009264|NCIT:C3396	mondo.json	SVC syndrome|superior vena cava syndrome|SVC obstruction|SVCS|superior vena cava thrombosis|superior vena cava obstruction	http://purl.obolibrary.org/obo/MONDO_0043287	http://identifiers.org/snomedct/63363004|NCIT:C3396|http://identifiers.org/mesh/D013479	gard_rare
GO:0006390	biolink:NamedThing	mitochondrial transcription	The synthesis of RNA from a mitochondrial DNA template, usually by a specific mitochondrial RNA polymerase.		mondo.json	transcription from mitochondrial promoter	http://purl.obolibrary.org/obo/GO_0006390		
GO:0031344	biolink:NamedThing	regulation of cell projection organization	Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell projections.		mondo.json	regulation of cell projection organisation|regulation of cell projection organization and biogenesis	http://purl.obolibrary.org/obo/GO_0031344		
GO:0031345	biolink:NamedThing	negative regulation of cell projection organization	Any process that stops, prevents, or reduces the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell projections.		mondo.json	down regulation of cell projection organization|inhibition of cell projection organization|down-regulation of cell projection organization|negative regulation of cell projection organization and biogenesis|downregulation of cell projection organization|negative regulation of cell projection organisation	http://purl.obolibrary.org/obo/GO_0031345		
GO:0031342	biolink:NamedThing	negative regulation of cell killing	Any process that stops, prevents, or reduces the frequency, rate or extent of cell killing.		mondo.json	down regulation of cell killing|inhibition of cell killing|down-regulation of cell killing|downregulation of cell killing	http://purl.obolibrary.org/obo/GO_0031342		
GO:0031343	biolink:NamedThing	positive regulation of cell killing	Any process that activates or increases the frequency, rate or extent of cell killing.		mondo.json	upregulation of cell killing|up regulation of cell killing|stimulation of cell killing|activation of cell killing|up-regulation of cell killing	http://purl.obolibrary.org/obo/GO_0031343		
GO:0031340	biolink:NamedThing	positive regulation of vesicle fusion	Any process that activates or increases the frequency, rate or extent of vesicle fusion.		mondo.json	up regulation of vesicle fusion|stimulation of vesicle fusion|up-regulation of vesicle fusion|activation of vesicle fusion|upregulation of vesicle fusion	http://purl.obolibrary.org/obo/GO_0031340		
GO:0031341	biolink:NamedThing	regulation of cell killing	Any process that modulates the frequency, rate or extent of cell killing, the process in which a cell brings about the death of another cell, either in the same or a different organism.		mondo.json		http://purl.obolibrary.org/obo/GO_0031341		
GO:0031339	biolink:NamedThing	negative regulation of vesicle fusion	Any process that stops, prevents, or reduces the frequency, rate or extent of vesicle fusion.		mondo.json	inhibition of vesicle fusion|down-regulation of vesicle fusion|downregulation of vesicle fusion|down regulation of vesicle fusion	http://purl.obolibrary.org/obo/GO_0031339		
MONDO:0043294	biolink:Disease	linear scleroderma	A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area.	SCTID:22784002|NCIT:C116780|GARD:0009513	mondo.json	en coup de sabre|Scleroderma, linear|linear Scleroderma|linear morphea|linear scleroderma	http://purl.obolibrary.org/obo/MONDO_0043294	NCIT:C116780|http://identifiers.org/snomedct/22784002	gard_rare
GO:0031337	biolink:NamedThing	positive regulation of sulfur amino acid metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids.		mondo.json	upregulation of sulfur amino acid metabolic process|up-regulation of sulfur amino acid metabolic process|up regulation of sulfur amino acid metabolic process|activation of sulfur amino acid metabolic process|positive regulation of sulfur amino acid metabolism|stimulation of sulfur amino acid metabolic process	http://purl.obolibrary.org/obo/GO_0031337		
GO:0031338	biolink:NamedThing	regulation of vesicle fusion	Any process that modulates the frequency, rate or extent of vesicle fusion.		mondo.json		http://purl.obolibrary.org/obo/GO_0031338		
MONDO:0043291	biolink:Disease	Rokitansky-Aschoff sinuses of the gallbladder	An abnormality characterized by macroscopic or microscopic outpouchings of gallbladder mucosa into the muscle of the gallbladder wall. It may be associated with cholecystitis or gallstones.	SCTID:22149007|UMLS:C0267892|MESH:C535869|GARD:0009419	mondo.json	intramural diverticulosis of the gallbladder|Aschoff-Rokitansky sinuses|Rokitansky-Aschoff sinuses	http://purl.obolibrary.org/obo/MONDO_0043291	UMLS:C0267892|http://identifiers.org/snomedct/22149007|http://identifiers.org/mesh/C535869	gard_rare
GO:0031335	biolink:NamedThing	regulation of sulfur amino acid metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids.		mondo.json	regulation of sulfur amino acid metabolism	http://purl.obolibrary.org/obo/GO_0031335		
GO:0031336	biolink:NamedThing	negative regulation of sulfur amino acid metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids.		mondo.json	down-regulation of sulfur amino acid metabolic process|down regulation of sulfur amino acid metabolic process|downregulation of sulfur amino acid metabolic process|inhibition of sulfur amino acid metabolic process|negative regulation of sulfur amino acid metabolism	http://purl.obolibrary.org/obo/GO_0031336		
MONDO:0043297	biolink:Disease	vibrio vulnificus infectious disease	An disease or disorder caused by infection with Vibrio vulnificus.	GARD:0009584|UMLS:C1274377|MESH:C536348|SCTID:402965002	mondo.json	Vibrio vulnificus infectious disease|vibrio vulnificus infectious disease|Vibrio vulnificus caused disease or disorder|Vibrio vulnificus disease or disorder|vibrio vulnificus infection	http://purl.obolibrary.org/obo/MONDO_0043297	UMLS:C1274377|http://identifiers.org/snomedct/402965002|http://identifiers.org/mesh/C536348	gard_rare
GO:0006396	biolink:NamedThing	RNA processing	Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules.		mondo.json		http://purl.obolibrary.org/obo/GO_0006396		
CHR:9606-chr14q32.2	biolink:NamedThing	14q32.2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr14q32.2		
GO:0031333	biolink:NamedThing	negative regulation of protein-containing complex assembly	Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex assembly.		mondo.json	downregulation of protein complex assembly|down regulation of protein complex assembly|inhibition of protein complex assembly|down-regulation of protein complex assembly|negative regulation of protein complex assembly	http://purl.obolibrary.org/obo/GO_0031333		
GO:0031334	biolink:NamedThing	positive regulation of protein-containing complex assembly	Any process that activates or increases the frequency, rate or extent of protein complex assembly.		mondo.json	stimulation of protein complex assembly|up-regulation of protein complex assembly|positive regulation of protein complex assembly|activation of protein complex assembly|upregulation of protein complex assembly|up regulation of protein complex assembly	http://purl.obolibrary.org/obo/GO_0031334		
GO:0031331	biolink:NamedThing	positive regulation of cellular catabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells.		mondo.json	upregulation of cellular catabolic process|positive regulation of cellular breakdown|up regulation of cellular catabolic process|stimulation of cellular catabolic process|up-regulation of cellular catabolic process|activation of cellular catabolic process|positive regulation of cellular catabolism|positive regulation of cellular degradation	http://purl.obolibrary.org/obo/GO_0031331		
GO:0033993	biolink:NamedThing	response to lipid	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0033993		
GO:0031330	biolink:NamedThing	negative regulation of cellular catabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells.		mondo.json	down regulation of cellular catabolic process|negative regulation of cellular catabolism|inhibition of cellular catabolic process|down-regulation of cellular catabolic process|negative regulation of cellular degradation|downregulation of cellular catabolic process|negative regulation of cellular breakdown	http://purl.obolibrary.org/obo/GO_0031330		
GO:0031328	biolink:NamedThing	positive regulation of cellular biosynthetic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells.		mondo.json	up-regulation of cellular biosynthetic process|positive regulation of cellular anabolism|up regulation of cellular biosynthetic process|activation of cellular biosynthetic process|positive regulation of cellular biosynthesis|positive regulation of cellular synthesis|stimulation of cellular biosynthetic process|positive regulation of cellular formation|upregulation of cellular biosynthetic process	http://purl.obolibrary.org/obo/GO_0031328		
SO:0002122	biolink:SequenceFeature	immunoglobulin_gene	A germline immunoglobulin gene.		mondo.json	IG_genes|All_IG_genes	http://purl.obolibrary.org/obo/SO_0002122		
GO:0031329	biolink:NamedThing	regulation of cellular catabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells.		mondo.json	regulation of cellular breakdown|regulation of cellular degradation|regulation of cellular catabolism	http://purl.obolibrary.org/obo/GO_0031329		
GO:0031326	biolink:NamedThing	regulation of cellular biosynthetic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells.		mondo.json	regulation of cellular anabolism|regulation of cellular synthesis|regulation of cellular biosynthesis|regulation of cellular formation	http://purl.obolibrary.org/obo/GO_0031326		
HGNC:18171	biolink:NamedThing	CD244			mondo.json		http://identifiers.org/hgnc/18171		
GO:0031327	biolink:NamedThing	negative regulation of cellular biosynthetic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells.		mondo.json	downregulation of cellular biosynthetic process|inhibition of cellular biosynthetic process|negative regulation of cellular synthesis|negative regulation of cellular formation|down-regulation of cellular biosynthetic process|negative regulation of cellular biosynthesis|down regulation of cellular biosynthetic process|negative regulation of cellular anabolism	http://purl.obolibrary.org/obo/GO_0031327		
SO:0002121	biolink:SequenceFeature	vertebrate_immune_system_gene	The configuration of the IG and TR variable (V), diversity (D) and joining (J) germline genes before DNA rearrangements (with or without constant (C) genes in undefined configuration. (germline, non rearranged regions of the IG DNA loci).		mondo.json	immune_gene	http://purl.obolibrary.org/obo/SO_0002121		
GO:0031324	biolink:NamedThing	negative regulation of cellular metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances.		mondo.json	inhibition of cellular metabolic process|down-regulation of cellular metabolic process|downregulation of cellular metabolic process|negative regulation of cellular metabolism|down regulation of cellular metabolic process	http://purl.obolibrary.org/obo/GO_0031324		
GO:0031325	biolink:NamedThing	positive regulation of cellular metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances.		mondo.json	upregulation of cellular metabolic process|up regulation of cellular metabolic process|positive regulation of cellular metabolism|stimulation of cellular metabolic process|up-regulation of cellular metabolic process|activation of cellular metabolic process	http://purl.obolibrary.org/obo/GO_0031325		
NCBITaxon:2560525	biolink:OrganismalEntity	Human orthorubulavirus 2		GC_ID:1	mondo.json	PIV-2|Human parainfluenza 2 virus|Human parainfluenza virus 2|Parainfluenza virus type 2|human parainfluenza virus|HPIV2|HPIV-2|Human rubulavirus 2|Human parainfluenza virus type 2	http://purl.obolibrary.org/obo/NCBITaxon_2560525		
GO:0006366	biolink:NamedThing	transcription by RNA polymerase II	The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).		mondo.json	gene-specific transcription from RNA polymerase II promoter|RNA polymerase II transcription factor activity|general transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription from Pol II promoter|specific transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0006366		
NCBITaxon:2560526	biolink:OrganismalEntity	Human orthorubulavirus 4		GC_ID:1	mondo.json	Human parainfluenza virus 4|Parainfluenza virus type 4|HPIV4|human parainfluenza virus|Human rubulavirus 4|Human parainfluenza virus type 4|HPIV type 4	http://purl.obolibrary.org/obo/NCBITaxon_2560526		
GO:0031323	biolink:NamedThing	regulation of cellular metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances.		mondo.json	regulation of cellular metabolism	http://purl.obolibrary.org/obo/GO_0031323		
HGNC:18179	biolink:NamedThing	VPS33A			mondo.json		http://identifiers.org/hgnc/18179		
MONDO:0018293	biolink:Disease	obsolete congenital disorder of glycosylation with skin involvement		Orphanet:371200	mondo.json	CDG with skin involvement	http://purl.obolibrary.org/obo/MONDO_0018293	Orphanet:371200	ordo_group_of_disorders
MONDO:0018292	biolink:Disease	congenital disorder of glycosylation-related bone disorder		Orphanet:371195	mondo.json	CDG-related bone disorder	http://purl.obolibrary.org/obo/MONDO_0018292	Orphanet:371195	disease_grouping|ordo_group_of_disorders
CHEBI:44185	biolink:ChemicalSubstance	methotrexate			mondo.json	Emtexate|METHOTREXATE|Methotrexate|MTX|Trexall|methotrexatum|methotrexate|N-(4-{[(2,4-diaminopteridin-6-yl)methyl](methyl)amino}benzoyl)-L-glutamic acid|Rheumatrex|Ledertrexate|metotrexato|N-[4-[[(2,4-diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid|4-amino-N(10)-methylpteroylglutamic acid|4-amino-10-methylfolic acid	http://purl.obolibrary.org/obo/CHEBI_44185		
HGNC:18187	biolink:NamedThing	SIAE			mondo.json		http://identifiers.org/hgnc/18187		
MONDO:0018295	biolink:Disease	obsolete congenital disorder of glycosylation with deafness as a major feature		Orphanet:371212	mondo.json	CDG with deafness as a major feature	http://purl.obolibrary.org/obo/MONDO_0018295	Orphanet:371212	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0018294	biolink:Disease	obsolete congenital disorder of glycosylation with nephropathy as a major feature		Orphanet:371207	mondo.json	CDG with nephropathy as a major feature	http://purl.obolibrary.org/obo/MONDO_0018294	Orphanet:371207	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
HGNC:18183	biolink:NamedThing	GIPC3			mondo.json		http://identifiers.org/hgnc/18183		
MONDO:0018291	biolink:Disease	obsolete congenital disorder of glycosylation with intestinal involvement		Orphanet:371188	mondo.json	CDG with intestinal involvement	http://purl.obolibrary.org/obo/MONDO_0018291	Orphanet:371188	ordo_group_of_disorders
MONDO:0018290	biolink:Disease	obsolete congenital disorder of glycosylation with cardiac malformation as a major feature		Orphanet:371183	mondo.json	CDG with cardiac malformation as a major feature	http://purl.obolibrary.org/obo/MONDO_0018290	Orphanet:371183	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
GO:0043368	biolink:NamedThing	positive T cell selection	The process of sparing immature T cells which react with self-MHC protein complexes with low affinity levels from apoptotic death.		mondo.json	positive T-cell selection|positive T lymphocyte selection|positive T-lymphocyte selection	http://purl.obolibrary.org/obo/GO_0043368		
MONDO:0018297	biolink:Disease	obsolete hypotonia-speech impairment-severe cognitive delay syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018297		
MONDO:0018296	biolink:Disease	obsolete congenital disorder of glycosylation with developmental anomaly		GARD:0012782|Orphanet:371235	mondo.json	CDG with developmental anomaly	http://purl.obolibrary.org/obo/MONDO_0018296	Orphanet:371235	gard_rare|ordo_group_of_disorders
MONDO:0018299	biolink:Disease	obsolete sphingolipidosis with epilepsy		Orphanet:371442	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018299	Orphanet:371442	disease_grouping|ordo_group_of_disorders
MONDO:0018298	biolink:Disease	multicentric osteolysis-nodulosis-arthropathy spectrum	A rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.	SCTID:716868003|UMLS:CN227313|Orphanet:371428	mondo.json	mona spectrum	http://purl.obolibrary.org/obo/MONDO_0018298	UMLS:CN227313|http://identifiers.org/snomedct/716868003|Orphanet:371428	ordo_disease
HGNC:18153	biolink:NamedThing	TNFRSF13B			mondo.json		http://identifiers.org/hgnc/18153		
MONDO:0043240	biolink:Disease	hemophilic arthropathy	A form of arthritis that affects hemophiliacs, which is characterized by bleeding into the joint space.	SCTID:80813006|GARD:0006592|NCIT:C27039|UMLS:C0263725	mondo.json	arthropathy in hemophilia|hemophilic arthropathy|hemophilic arthritis	http://purl.obolibrary.org/obo/MONDO_0043240	NCIT:C27039|http://identifiers.org/snomedct/80813006|UMLS:C0263725	gard_rare
GO:0031304	biolink:NamedThing	intrinsic component of mitochondrial inner membrane	The component of the mitochondrial inner membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane.		mondo.json	intrinsic to mitochondrial inner membrane	http://purl.obolibrary.org/obo/GO_0031304		
GO:0031305	biolink:NamedThing	integral component of mitochondrial inner membrane	The component of the mitochondrial inner membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.		mondo.json	integral to mitochondrial inner membrane	http://purl.obolibrary.org/obo/GO_0031305		
HGNC:18150	biolink:NamedThing	MYO18B			mondo.json		http://identifiers.org/hgnc/18150		
MONDO:0043247	biolink:Disease	Mallory-Weiss syndrome	A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was initially described in alcoholics.	GARD:0006967|UMLS:C0024633|SCTID:35265002|NCIT:C84881|MESH:D008309	mondo.json	mucosal lacerations - gastroesophageal junction|Lacerations-gastroesophageal junction, mucosal|mucosal Lacerations gastroesophageal junction|Mallory Weiss laceration|junction, mucosal Lacerations-gastroesophageal|gastro-esophageal laceration-hemorrhage syndrome|syndrome, Mallory-Weiss|Lacerations-gastroesophageal junctions, mucosal|Mallory-Weiss laceration|gastroesophageal laceration-hemorrhage syndrome|laceration-hemorrhages, gastroesophageal|junctions, mucosal Lacerations-gastroesophageal|laceration-hemorrhage, gastroesophageal|Mallory-Weiss syndrome|Mallory Weiss tear|gastroesophageal laceration hemorrhage|Mallory Weiss syndrome|laceration, Mallory-Weiss|mucosal Lacerations-gastroesophageal junctions|gastroesophageal laceration-hemorrhage|mucosal Lacerations-gastroesophageal junction|Mallory-Weiss tear|gastroesophageal laceration-hemorrhages	http://purl.obolibrary.org/obo/MONDO_0043247	http://identifiers.org/mesh/D008309|UMLS:C0024633|http://identifiers.org/snomedct/35265002|NCIT:C84881	gard_rare
MONDO:0043243	biolink:Disease	leukoplakia	A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition.	NCIT:C3186|SCTID:274134003|MESH:D007971|GARD:0006897|UMLS:C0023531	mondo.json	leukoplakias|leukoplakic lesions|keratotic plaque|leukoplakia|leukoplakic lesion|lesion, leukoplakic|leukokeratoses|leukokeratosis|lesions, leukoplakic	http://purl.obolibrary.org/obo/MONDO_0043243	http://identifiers.org/mesh/D007971|UMLS:C0023531|NCIT:C3186|http://identifiers.org/snomedct/274134003	gard_rare
GO:0031300	biolink:NamedThing	intrinsic component of organelle membrane	The component of the organelle membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane.		mondo.json	intrinsic to organelle membrane	http://purl.obolibrary.org/obo/GO_0031300		
GO:0031301	biolink:NamedThing	integral component of organelle membrane	The component of the organelle membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.		mondo.json	integral to organelle membrane	http://purl.obolibrary.org/obo/GO_0031301		
GO:0070991	biolink:NamedThing	medium-chain-acyl-CoA dehydrogenase activity	Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor, where the acyl group is a medium-chain fatty acid residue. A medium chain fatty acid is any fatty acid with a chain length of between C6 and C12.		mondo.json	MCAD activity	http://purl.obolibrary.org/obo/GO_0070991		
MONDO:0043251	biolink:Disease	odontoma	A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. According to the presence or absence of tooth-like structures, it is classified as complex type or compound type. Odontoma of complex type is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur. Odontoma of compound type is characterized by the presence of tooth-like structures. It is treated by local excision. Recurrences have not been reported.	GARD:0007247|ICDO:9280/0|NCIT:C3287|MESH:D009810	mondo.json	odontoma|ameloblastic fibro-odontomas|fibroodontomas|odontoma, compound|fibro odontoma, ameloblastic|fibroodontoma|odontomas|odontoma, benign|fibro-odontomas|odontomas, compound|ameloblastic fibro-odontoma|fibro-odontoma, ameloblastic|compound odontomas|fibro-odontomas, ameloblastic|compound odontoma|fibro odontoma|fibro-odontoma	http://purl.obolibrary.org/obo/MONDO_0043251	NCIT:C3287|http://identifiers.org/mesh/D009810	gard_rare
HP:0040069	biolink:PhenotypicFeature	Abnormal lower limb bone morphology		UMLS:C4022457|UMLS:C4022455	mondo.json	Abnormal morphology of bones of the lower limbs|Abnormal shape of bones of the lower limbs|Abnormality of lower limb bone	http://purl.obolibrary.org/obo/HP_0040069		
GO:0006357	biolink:NamedThing	regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.		mondo.json	global transcription regulation from Pol II promoter|regulation of global transcription from Pol II promoter|regulation of gene-specific transcription from RNA polymerase II promoter|regulation of transcription from Pol II promoter|regulation of transcription from RNA polymerase II promoter, global|regulation of transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0006357		
GO:0043388	biolink:NamedThing	positive regulation of DNA binding	Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid).		mondo.json	stimulation of DNA binding|upregulation of DNA binding|up-regulation of DNA binding|up regulation of DNA binding|activation of DNA binding	http://purl.obolibrary.org/obo/GO_0043388		
GO:0006355	biolink:NamedThing	regulation of DNA-templated transcription	Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.		mondo.json	regulation of transcription, DNA-templated|transcriptional control|regulation of cellular transcription, DNA-dependent|regulation of transcription, DNA-dependent|regulation of gene-specific transcription	http://purl.obolibrary.org/obo/GO_0006355		
MONDO:0043257	biolink:Disease	pemphigus and fogo selvagem		HGNC:3048|MESH:C535551|SCTID:46459009|GARD:0007353|UMLS:C0263314	mondo.json	FS|amendola's syndrome|Brazilian pemphigus foliaceus|Brazilian pemphigus|wild fire|wildfire pemphigus|endemic pemphigus foliaceus|fogo selvagem|South American pemphigus	http://purl.obolibrary.org/obo/MONDO_0043257	http://identifiers.org/mesh/C535551|UMLS:C0263314|http://identifiers.org/snomedct/46459009	gard_rare
GO:0006354	biolink:NamedThing	DNA-templated transcription elongation	The extension of an RNA molecule after transcription initiation and promoter clearance at a DNA-dependent RNA polymerase promoter by the addition of ribonucleotides catalyzed by an RNA polymerase.		mondo.json	transcription elongation from bacterial-type RNA polymerase promoter|DNA-templated transcription, elongation|transcriptional elongation, DNA-dependent|RNA elongation from bacterial-type RNA polymerase promoter|RNA elongation|transcription elongation, DNA-dependent|DNA-dependent transcription, elongation	http://purl.obolibrary.org/obo/GO_0006354		
GO:0006351	biolink:NamedThing	DNA-templated transcription	The synthesis of an RNA transcript from a DNA template.		mondo.json	cellular transcription|transcription from bacterial-type RNA polymerase promoter|bacterial transcription|transcription, DNA-templated|DNA-dependent transcription|transcription|transcription, DNA-dependent	http://purl.obolibrary.org/obo/GO_0006351		
GO:0043384	biolink:NamedThing	pre-T cell receptor complex	A receptor complex found on immature T cells consisting of a T cell receptor beta chain and the pre-TCR-alpha chain, along with additional signaling components including CD3 family members and additional signaling proteins.		mondo.json	pre-T-lymphocyte receptor complex|pre-TCR complex|pre-T lymphocyte receptor complex|pre-T-cell receptor complex	http://purl.obolibrary.org/obo/GO_0043384		
MONDO:0043254	biolink:Disease	papular urticaria		MESH:C537169|GARD:0007322|SCTID:55608001	mondo.json	urticaria papulosa of hebra|lichen urticatus|prurigo simplex|strophulus|bullous papular urticaria - type|papular urticaria	http://purl.obolibrary.org/obo/MONDO_0043254	http://identifiers.org/snomedct/55608001|http://identifiers.org/mesh/C537169	gard_rare
HP:0040064	biolink:PhenotypicFeature	Abnormality of limbs		SNOMEDCT_US:445144002|UMLS:C4073131|UMLS:C0239337	mondo.json	Abnormal limbs|Limb anomaly|Abnormality of limbs|Dysmelia	http://purl.obolibrary.org/obo/HP_0040064		
HP:0040068	biolink:PhenotypicFeature	Abnormality of limb bone		UMLS:C4022456	mondo.json	Abnormality of limb bone	http://purl.obolibrary.org/obo/HP_0040068		
HGNC:18169	biolink:NamedThing	FKBP10			mondo.json		http://identifiers.org/hgnc/18169		
HP:0040066	biolink:PhenotypicFeature	obsolete Abnormal morphology of bones of the lower limbs			mondo.json		http://purl.obolibrary.org/obo/HP_0040066		
GO:0043393	biolink:NamedThing	regulation of protein binding	Any process that modulates the frequency, rate or extent of protein binding.		mondo.json		http://purl.obolibrary.org/obo/GO_0043393		
GO:0043392	biolink:NamedThing	negative regulation of DNA binding	Any process that stops or reduces the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid).		mondo.json	down regulation of DNA binding|downregulation of DNA binding|inhibition of DNA binding|down-regulation of DNA binding	http://purl.obolibrary.org/obo/GO_0043392		
HGNC:18130	biolink:NamedThing	SYCP3			mondo.json		http://identifiers.org/hgnc/18130		
GO:0006323	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0006323		
MONDO:0043267	biolink:Disease	rheumatoid vasculitis	Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ulcers, peripheral gangrene, and mononeuritis multiplex.	GARD:0007577|SCTID:400054000|MESH:D056653|UMLS:C0240903	mondo.json	vasculitis, rheumatoid|Vasculitides, rheumatoid|rheumatoid Vasculitides|rheumatoid vasculitis	http://purl.obolibrary.org/obo/MONDO_0043267	UMLS:C0240903|http://identifiers.org/mesh/D056653|http://identifiers.org/snomedct/400054000	gard_rare
FOODON:03412409	biolink:NamedThing	coelenterate	*Coelenterata* is an obsolete term encompassing the animal phyla *Cnidaria* (coral animals, true jellies, sea anemones, sea pens, and their allies) and *Ctenophora* (comb jellies).  [https://en.wikipedia.org/wiki/Coelenterata]		mondo.json		http://purl.obolibrary.org/obo/FOODON_03412409		
MONDO:0043264	biolink:Disease	post-traumatic epilepsy	Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6)	GARD:0007437|SCTID:75023009|MESH:D004834|UMLS:C0751126	mondo.json	Epilepsies, post-traumatic|seizure, late post-traumatic|post-traumatic seizures, early|concussive convulsion|late post traumatic seizures|PTE - post-traumatic epilepsy|impact seizure|convulsions, concussive|epilepsy, post traumatic|late post-traumatic seizure|post-traumatic seizure, late|seizures, early post-traumatic|seizure disorder, post-traumatic|early post traumatic seizures|post-traumatic epilepsy|late post-traumatic seizures|impact seizures|convulsion, concussive|concussive convulsions|seizure disorders, post-traumatic|disorders, post-traumatic seizure|Epilepsies, traumatic|traumatic epilepsy|seizure disorder, post traumatic|early post-traumatic seizures|traumatic Epilepsies|epilepsy, traumatic|disorder, post-traumatic seizure|post traumatic seizure disorder|post-traumatic seizure disorders|seizures, late post-traumatic|post-traumatic Epilepsies|seizure, early post-traumatic|post-traumatic seizure disorder|post-traumatic seizure, early|post-traumatic seizures, late|early post-traumatic seizure	http://purl.obolibrary.org/obo/MONDO_0043264	http://identifiers.org/snomedct/75023009|http://identifiers.org/mesh/D004834|UMLS:C0751126	gard_rare
MONDO:0031280	biolink:Disease	Stuve-Wiedemann syndrome		OMIMPS:601559	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031280	https://omim.org/phenotypicSeries/PS601559	
HGNC:33778	biolink:NamedThing	MYMK			mondo.json		http://identifiers.org/hgnc/33778		
HP:0040075	biolink:PhenotypicFeature	Hypopituitarism		UMLS:C0020635|MSH:D007018|SNOMEDCT_US:74728003	mondo.json		http://purl.obolibrary.org/obo/HP_0040075		
HP:0040077	biolink:PhenotypicFeature	obsolete Abnormal concentration of calcium in blood			mondo.json		http://purl.obolibrary.org/obo/HP_0040077		
HGNC:18143	biolink:NamedThing	DAAM2			mondo.json		http://identifiers.org/hgnc/18143		
HGNC:18141	biolink:NamedThing	DCDC2			mondo.json		http://identifiers.org/hgnc/18141		
MONDO:0043275	biolink:Disease	TORCH syndrome	A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly.	UMLS:C0270173|GARD:0007781|NCIT:C98609|SCTID:41679006	mondo.json	TORCH infection|toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus syndrome|torch syndrome|toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus (torch) syndrome|toxoplasmosis, Other infections, Rubella, Cytomegalovirus, and Herpes simplex Virus (TORCH) syndrome|Toxoplasma, rubella, cytomegalovirus and herpes simplex mixed infection|TORCH syndrome	http://purl.obolibrary.org/obo/MONDO_0043275	NCIT:C98609|http://identifiers.org/snomedct/41679006|UMLS:C0270173	gard_rare
MONDO:0043277	biolink:Disease	mosaic trisomy 6	Trisomy 6 is a rare prenatal finding. Trisomy 6 conceptions have not been observed in the large case reports of chromosomal mosaicism detected during chorionic villus sampling (Hahnemann & Vejerslev 1997).	NCIT:C36475|SCTID:205647005|GARD:0007815	mondo.json	trisomy 6 mosaicism|trisomy 6	http://purl.obolibrary.org/obo/MONDO_0043277	http://identifiers.org/snomedct/205647005	gard_rare
CHEBI:32178	biolink:ChemicalSubstance	Talc			mondo.json	Talc	http://purl.obolibrary.org/obo/CHEBI_32178		
RO:0003303	biolink:NamedThing	causes condition	A relationship between an entity (e.g. a genotype, genetic variation, chemical, or environmental exposure) and a condition (a phenotype or disease), where the entity has some causal role for the condition.		mondo.json		http://purl.obolibrary.org/obo/RO_0003303		
RO:0003302	biolink:NamedThing	causes or contributes to condition	A relationship between an entity (e.g. a genotype, genetic variation, chemical, or environmental exposure) and a condition (a phenotype or disease), where the entity has some causal or contributing role that influences the condition.		mondo.json		http://purl.obolibrary.org/obo/RO_0003302		
HP:0040084	biolink:PhenotypicFeature	Abnormal circulating renin	A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions.	UMLS:C4021038	mondo.json	Abnormal circulating renin|Abnormal plasma renin	http://purl.obolibrary.org/obo/HP_0040084		
HP:0040088	biolink:PhenotypicFeature	Abnormal lymphocyte count	Any abnormality in the total number of lymphocytes in the blood.	UMLS:C0580550|SNOMEDCT_US:165534000	mondo.json	Abnormal numbers of lymphocytes|Abnormal lymphocyte counts|Abnormality of lymphocyte number|Abnormal number of lymphocytes|Abnormal lymphocyte count	http://purl.obolibrary.org/obo/HP_0040088		
HGNC:18145	biolink:NamedThing	PHF6			mondo.json		http://identifiers.org/hgnc/18145		
MONDO:0031219	biolink:Disease	mismatch repair cancer syndrome		OMIMPS:276300	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031219	https://omim.org/phenotypicSeries/PS276300	
MONDO:0018240	biolink:Disease	TRPV4-related bone disorder		UMLS:CN227290|Orphanet:364820	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018240	UMLS:CN227290|Orphanet:364820	disease_grouping|ordo_group_of_disorders
MONDO:0021895	biolink:Disease	temporomandibular joint dysfunction syndrome	A common disorder noted with jaw movement. It may be caused by malocclusion, repetitive use injury, trauma or arthritis. It is more prevalent among females between their second and fourth decades. Clinical signs include preauricular pain, temporomandibular joint clicking (as the mandibular condyle slips from the articulation made with the capsular disc and temporal bone) and restriction of jaw motion. Clinical course is typically benign but may progress to associated headaches, ear and neck pain, tinnitus and dislocation of temporomandibular joint. Prognosis is favorable as a majority of cases will respond to conservative management.	UMLS:C0039496|NCIT:C35066|MESH:D013706	mondo.json	Snapping jaw|Costen Syndrome|Myofascial pain - dysfunction syndrome of TMJ|Syndrome, Temporomandibular Joint|Joint Syndrome, Temporomandibular|Syndrome, Costen's|Temporomandibular Joint Dysfunction Syndrome|Costens Syndrome|Temporomandibular Joint Syndrome|Temporomandibular joint syndrome|Temporomandibular joint-pain-dysfunction syndrome|Temporomandibular joint pain dysfunction syndrome|Costen's complex|Mandibular dysfunction|TMJ Syndrome|temporomandibular joint dysfunction syndrome|Costen's Syndrome|TMJ syndrome|Myofascial Pain Dysfunction Syndrome, Temporomandibular Joint|Costen's syndrome|TMJPDS - Temporomandibular joint pain dysfunction syndrome|Syndrome, TMJ	http://purl.obolibrary.org/obo/MONDO_0021895	NCIT:C35066|UMLS:C0039496|http://identifiers.org/mesh/D013706	
MONDO:0021896	biolink:Disease	anterior spinal artery stroke		GARD:0009653|MESH:C537776|UMLS:C2931608	mondo.json		http://purl.obolibrary.org/obo/MONDO_0021896	http://identifiers.org/mesh/C537776|UMLS:C2931608	gard_rare
MONDO:0006259	biolink:Disease	obsolete juvenile xanthogranuloma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006259		
NBO:0001786	biolink:NamedThing	regulation of behavior	"Any process that modulates the frequency, rate or extent of behavior, the specific actions or reactions of an organism in response to external or internal stimuli." [GO:0050795]		mondo.json		http://purl.obolibrary.org/obo/NBO_0001786		
MONDO:0006257	biolink:Disease	jejunal neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	EFO:1000308|NCIT:C6429|UMLS:C1334296	mondo.json	jejunal NET G1|jejunum carcinoid tumor (disease)|grade 1 neuroendocrine neoplasm of jejunum|jejunum neuroendocrine tumor, well differentiated, low grade|jejunal carcinoid tumor|jejunum carcinoid tumor|carcinoid tumor of the jejunum|carcinoid tumor of jejunum|jejunum neuroendocrine neoplasm G1|jejunum NET G1	http://purl.obolibrary.org/obo/MONDO_0006257	NCIT:C6429|UMLS:C1334296	
MONDO:0006258	biolink:Disease	juvenile polyp	A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.	UMLS:C0221273|EFO:1000310|NCIT:C3826	mondo.json	juvenile polyp|retention polyp	http://purl.obolibrary.org/obo/MONDO_0006258	UMLS:C0221273|NCIT:C3826	
MONDO:0006255	biolink:Disease	intimal sarcoma	A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor.	EFO:1000305|NCIT:C53677|UMLS:C1708550|ONCOTREE:INTS	mondo.json	INTS	http://purl.obolibrary.org/obo/MONDO_0006255	NCIT:C53677|UMLS:C1708550	
MONDO:0006256	biolink:Disease	invasive breast carcinoma	A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women.	ONCOTREE:BRCA|SCTID:713609000|EFO:1000307|NCIT:C9245|UMLS:C0853879	mondo.json	infiltrating breast carcinoma|invasive carcinoma of breast|invasive carcinoma of the breast|invasive mammary carcinoma|invasive breast cancer|invasive breast carcinoma|BRCA|infiltrating carcinoma of breast|infiltrating carcinoma of the breast|infiltrating breast cancer	http://purl.obolibrary.org/obo/MONDO_0006256	UMLS:C0853879|http://identifiers.org/snomedct/713609000|NCIT:C9245	
MONDO:0006253	biolink:Disease	obsolete infiltrating bladder urothelial carcinoma sarcomatoid variant			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006253		
MONDO:0006254	biolink:Disease	intestinal type adenocarcinoma	An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas.	ICDO:8144/3|UMLS:C0334279|EFO:1000304|NCIT:C4126	mondo.json	intestinal type carcinoma|intestinal-type adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006254	NCIT:C4126|UMLS:C0334279	
MONDO:0006251	biolink:Disease	obsolete inclusion body fibromatosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006251		
MONDO:0006252	biolink:Disease	obsolete infiltrating bladder lymphoepithelioma-like carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006252		
GO:0045916	biolink:NamedThing	negative regulation of complement activation	Any process that stops, prevents, or reduces the frequency, rate or extent of complement activation.		mondo.json	down-regulation of complement activation|down regulation of complement activation|downregulation of complement activation|inhibition of complement activation|negative regulation of complement cascade	http://purl.obolibrary.org/obo/GO_0045916		
MONDO:0006250	biolink:Disease	ileal neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	ICD9:209.03|EFO:1000300|NCIT:C4935|UMLS:C0745216|SCTID:425318003	mondo.json	ileum neuroendocrine neoplasm G1|ileal neuroendocrine tumor G1|ileum carcinoid tumor (disease)|grade 1 neuroendocrine neoplasm of ileum|ileum NET G1|ileal carcinoid tumor|ileum carcinoid tumor|ileum neuroendocrine tumor, well differentiated, low grade|ileal NET G1|carcinoid tumor of the ileum|carcinoid tumor of ileum	http://purl.obolibrary.org/obo/MONDO_0006250	http://identifiers.org/snomedct/425318003|NCIT:C4935|UMLS:C0745216	
GO:0045917	biolink:NamedThing	positive regulation of complement activation	Any process that activates or increases the frequency, rate or extent of complement activation.		mondo.json	activation of complement activation|positive regulation of complement cascade|stimulation of complement activation|upregulation of complement activation|up-regulation of complement activation|up regulation of complement activation	http://purl.obolibrary.org/obo/GO_0045917		
GO:0045914	biolink:NamedThing	negative regulation of catecholamine metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving catecholamine.		mondo.json	down regulation of catecholamine metabolic process|negative regulation of catecholamine metabolism|downregulation of catecholamine metabolic process|inhibition of catecholamine metabolic process|down-regulation of catecholamine metabolic process	http://purl.obolibrary.org/obo/GO_0045914		
GO:0045915	biolink:NamedThing	positive regulation of catecholamine metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving catecholamine.		mondo.json	up-regulation of catecholamine metabolic process|positive regulation of catecholamine metabolism|up regulation of catecholamine metabolic process|activation of catecholamine metabolic process|stimulation of catecholamine metabolic process|upregulation of catecholamine metabolic process	http://purl.obolibrary.org/obo/GO_0045915		
GO:0045912	biolink:NamedThing	negative regulation of carbohydrate metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving carbohydrate.		mondo.json	inhibition of carbohydrate metabolic process|down-regulation of carbohydrate metabolic process|downregulation of carbohydrate metabolic process|negative regulation of carbohydrate metabolism|down regulation of carbohydrate metabolic process	http://purl.obolibrary.org/obo/GO_0045912		
GO:0045913	biolink:NamedThing	positive regulation of carbohydrate metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving carbohydrate.		mondo.json	upregulation of carbohydrate metabolic process|up regulation of carbohydrate metabolic process|stimulation of carbohydrate metabolic process|positive regulation of carbohydrate metabolism|up-regulation of carbohydrate metabolic process|activation of carbohydrate metabolic process	http://purl.obolibrary.org/obo/GO_0045913		
MONDO:0018249	biolink:Disease	finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome		Orphanet:369979|UMLS:CN204822	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018249	Orphanet:369979|UMLS:CN204822	ordo_malformation_syndrome
GO:0045910	biolink:NamedThing	negative regulation of DNA recombination	Any process that stops, prevents, or reduces the frequency, rate or extent of DNA recombination.		mondo.json	down regulation of DNA recombination|inhibition of DNA recombination|downregulation of DNA recombination|down-regulation of DNA recombination	http://purl.obolibrary.org/obo/GO_0045910		
HGNC:18119	biolink:NamedThing	SPATA5			mondo.json		http://identifiers.org/hgnc/18119		
GO:0045911	biolink:NamedThing	positive regulation of DNA recombination	Any process that activates or increases the frequency, rate or extent of DNA recombination.		mondo.json	up-regulation of DNA recombination|up regulation of DNA recombination|activation of DNA recombination|stimulation of DNA recombination|upregulation of DNA recombination	http://purl.obolibrary.org/obo/GO_0045911		
MONDO:0018246	biolink:Disease	homozygous 2p21 microdeletion syndrome		Orphanet:369886|UMLS:CN204808|OMIM:606407	mondo.json	2p21 contiguous gene deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0018246	Orphanet:369886|UMLS:CN204808	ordo_group_of_disorders|disease_grouping
MONDO:0018245	biolink:Disease	2p21 microdeletion syndrome without cystinuria	2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.	UMLS:CN204807|Orphanet:369881	mondo.json	Del(2)(p21) without cystinuria	http://purl.obolibrary.org/obo/MONDO_0018245	Orphanet:369881|UMLS:CN204807	ordo_malformation_syndrome
MONDO:0018248	biolink:Disease	intellectual disability-seizures-macrocephaly-obesity syndrome	Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.	Orphanet:369950|UMLS:CN204818	mondo.json	Der(8)t(8;12)	http://purl.obolibrary.org/obo/MONDO_0018248	Orphanet:369950|UMLS:CN204818	ordo_disease
MONDO:0033885	biolink:Disease	mitochondrial complex IV deficiency, nuclear-type		OMIMPS:220110	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033885	https://omim.org/phenotypicSeries/PS220110	
MONDO:0018247	biolink:Disease	CADDS		Orphanet:369942|GARD:0012472|UMLS:CN180200	mondo.json	contiguous ABCD1 DXS1357E deletion syndrome|CADDS|Zellweger-like contiguous gene deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0018247	Orphanet:369942|UMLS:CN180200	ordo_disease
MONDO:0018242	biolink:Disease	autoimmune hypoparathyroidism	An autoimmune form of hypoparathyroidism.	SCTID:75316000|HP:0011771|Orphanet:36913|UMLS:C0271865	mondo.json	autoimmune hypoparathyroidism (disease)|autoimmune hypoparathyroidism	http://purl.obolibrary.org/obo/MONDO_0018242	Orphanet:36913|UMLS:C0271865|http://identifiers.org/snomedct/75316000	ordo_disease
MONDO:0018241	biolink:Disease	primary short bowel syndrome		UMLS:CN204780|Orphanet:365563	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018241	UMLS:CN204780|Orphanet:365563	ordo_group_of_disorders|disease_grouping
MONDO:0018244	biolink:Disease	obesity due to SIM1 deficiency		Orphanet:369873	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018244	Orphanet:369873	ordo_disease
HGNC:18111	biolink:NamedThing	CCDC50			mondo.json		http://identifiers.org/hgnc/18111		
MONDO:0018243	biolink:Disease	intellectual disability-hyperkinetic movement-truncal ataxia syndrome		ICD10CM:G71.0|UMLS:CN204803|Orphanet:369847	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018243	Orphanet:369847|UMLS:CN204803	ordo_disease
HGNC:18121	biolink:NamedThing	MFRP			mondo.json		http://identifiers.org/hgnc/18121		
MONDO:0006268	biolink:Disease	liver diffuse large B-cell lymphoma	A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver.	NCIT:C96843|UMLS:C2184126|EFO:1000323	mondo.json	hepatic diffuse large B-cell lymphoma|liver diffuse large B-cell lymphoma|primary liver diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of liver|primary hepatic diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0006268	UMLS:C2184126|NCIT:C96843	
GO:0045920	biolink:NamedThing	negative regulation of exocytosis	Any process that stops, prevents, or reduces the frequency, rate or extent of exocytosis.		mondo.json	down regulation of exocytosis|inhibition of exocytosis|down-regulation of exocytosis|downregulation of exocytosis	http://purl.obolibrary.org/obo/GO_0045920		
MONDO:0006269	biolink:Disease	obsolete liver inflammatory myofibroblastic tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006269		
MONDO:0006266	biolink:Disease	Leydig cell tumor	A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course.	ICDO:8650/1|MESH:D007984|UMLS:C0023601|EFO:1000321|DOID:2696|NCIT:C3188	mondo.json	interstitial cell neoplasm|Leydig cell tumor|Leydig cell tumor, undetermined|interstitial cell tumor|Leydig cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0006266	http://identifiers.org/mesh/D007984|DOID:2696|UMLS:C0023601|NCIT:C3188	
MONDO:0006267	biolink:Disease	liver cavernous hemangioma	A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females.	NCIT:C96839|EFO:1000322|UMLS:C3282904	mondo.json	cavernous hemangioma of liver|liver cavernous hemangioma	http://purl.obolibrary.org/obo/MONDO_0006267	UMLS:C3282904|NCIT:C96839	
MONDO:0006264	biolink:Disease	laryngeal adenoid cystic carcinoma	A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases.	EFO:1000319|DOID:4869|UMLS:C1334368|NCIT:C9462	mondo.json	laryngeal adenoid cystic carcinoma|laryngeal throat adenoid cystic cancer|adenoid cystic carcinoma of larynx|adenoid cystic carcinoma of the larynx	http://purl.obolibrary.org/obo/MONDO_0006264	UMLS:C1334368|NCIT:C9462|DOID:4869	
MONDO:0006265	biolink:Disease	laryngeal small cell carcinoma	A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course.	DOID:7144|UMLS:C1334378|NCIT:C6025|EFO:1000320	mondo.json	laryngeal small cell carcinoma|laryngeal throat small cell cancer|larynx small cell carcinoma|small cell carcinoma of the larynx|small cell carcinoma of larynx	http://purl.obolibrary.org/obo/MONDO_0006265	DOID:7144|UMLS:C1334378|NCIT:C6025	
MONDO:0006262	biolink:Disease	lacrimal gland adenoid cystic carcinoma	A adenoid cystic carcinoma that involves the lacrimal gland.	EFO:1000317|NCIT:C4540|UMLS:C0346340|DOID:4870|SCTID:254987003	mondo.json	adenoid cystic carcinoma of lacrimal gland|lacrimal gland adenoid cystic carcinoma|adenoid cystic carcinoma of the lacrimal gland	http://purl.obolibrary.org/obo/MONDO_0006262	http://identifiers.org/snomedct/254987003|NCIT:C4540|UMLS:C0346340|DOID:4870	
MONDO:0006263	biolink:Disease	obsolete Langerhans cell histiocytosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006263		
GO:0045927	biolink:NamedThing	positive regulation of growth	Any process that activates or increases the rate or extent of growth, the increase in size or mass of all or part of an organism.		mondo.json	upregulation of growth|up regulation of growth|stimulation of growth|up-regulation of growth|activation of growth	http://purl.obolibrary.org/obo/GO_0045927		
MONDO:0006260	biolink:Disease	kidney medullary carcinoma	A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis.	GARD:0013175|UMLS:CN203938|ONCOTREE:MRC|NCIT:C7572|EFO:1000314|MedDRA:10064886|Orphanet:319319	mondo.json	renal medullary carcinoma|carcinoma of renal medulla|renal medulla carcinoma|kidney medullary carcinoma	http://purl.obolibrary.org/obo/MONDO_0006260	Orphanet:319319|UMLS:CN203938|NCIT:C7572	ordo_disease
MONDO:0043209	biolink:Disease	albinism	A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin.	MESH:D000417|NCIT:C84543|ICD10CM:E70.3|UMLS:C0001916|GARD:0005768|SCTID:15890002	mondo.json	albinism	http://purl.obolibrary.org/obo/MONDO_0043209	http://identifiers.org/snomedct/15890002|NCIT:C84543|http://purl.bioontology.org/ontology/ICD10CM/E70.3|http://identifiers.org/mesh/D000417|UMLS:C0001916	gard_rare
MONDO:0006261	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0006261		
GO:0045926	biolink:NamedThing	negative regulation of growth	Any process that stops, prevents or reduces the rate or extent of growth, the increase in size or mass of all or part of an organism.		mondo.json	downregulation of growth|down regulation of growth|inhibition of growth|down-regulation of growth	http://purl.obolibrary.org/obo/GO_0045926		
MONDO:0043206	biolink:Disease	trichostasis spinulosa	Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle, a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with multiple tiny short hairs, usually only visible with a magnifying glass. TS usually does not cause problems andmay only be noticed as an incidental finding. The exact cause is unknown.	UMLS:C0263487|SCTID:21049007|MESH:C536558|GARD:0005269	mondo.json	trichostasis spinulosa|elevated dark spiny papules on the face or trunk	http://purl.obolibrary.org/obo/MONDO_0043206	http://identifiers.org/snomedct/21049007|http://identifiers.org/mesh/C536558|UMLS:C0263487	gard_rare
GO:0045923	biolink:NamedThing	positive regulation of fatty acid metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving fatty acids.		mondo.json	positive regulation of fatty acid metabolism|upregulation of fatty acid metabolic process|up regulation of fatty acid metabolic process|stimulation of fatty acid metabolic process|activation of fatty acid metabolic process|up-regulation of fatty acid metabolic process	http://purl.obolibrary.org/obo/GO_0045923		
MONDO:0018239	biolink:Disease	aggrecan-related bone disorder		UMLS:CN227289|Orphanet:364817	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018239	UMLS:CN227289|Orphanet:364817	ordo_group_of_disorders|disease_grouping
MONDO:0018238	biolink:Disease	obsolete rare bone disease related to a common gene or pathway defect			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018238		
GO:0045921	biolink:NamedThing	positive regulation of exocytosis	Any process that activates or increases the frequency, rate or extent of exocytosis.		mondo.json	upregulation of exocytosis|stimulation of exocytosis|up regulation of exocytosis|up-regulation of exocytosis|activation of exocytosis	http://purl.obolibrary.org/obo/GO_0045921		
GO:0045922	biolink:NamedThing	negative regulation of fatty acid metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving fatty acids.		mondo.json	inhibition of fatty acid metabolic process|down-regulation of fatty acid metabolic process|negative regulation of fatty acid metabolism|downregulation of fatty acid metabolic process|down regulation of fatty acid metabolic process	http://purl.obolibrary.org/obo/GO_0045922		
MONDO:0043207	biolink:Disease	urethral obstruction sequence		UMLS:C0265363|SCTID:18241005|GARD:0005428|MESH:C536477	mondo.json	early urethral obstruction sequence|EUOS|renal dysplasia or hydronephrosis, oligohydramnios and subsequent lung hypoplasia due to urethral obstruction	http://purl.obolibrary.org/obo/MONDO_0043207	http://identifiers.org/snomedct/18241005|UMLS:C0265363|http://identifiers.org/mesh/C536477	gard_rare
HP:0003074	biolink:PhenotypicFeature	Hyperglycemia	An increased concentration of glucose in the blood.	UMLS:C0020456|MSH:D006943|SNOMEDCT_US:80394007|SNOMEDCT_US:237598005	mondo.json	High blood sugar|High blood glucose	http://purl.obolibrary.org/obo/HP_0003074		
MONDO:0018235	biolink:Disease	obsolete dysostosis with limb anomaly as a major feature		Orphanet:364568	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018235	Orphanet:364568	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0018234	biolink:Disease	dysostosis	A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones.	ICD9:756.9|NCIT:C34560|DOID:1934|UMLS:C0013393|SCTID:109420003|Orphanet:364559|MESH:D004413	mondo.json	dysostosis	http://purl.obolibrary.org/obo/MONDO_0018234	http://identifiers.org/mesh/D004413|DOID:1934|Orphanet:364559|UMLS:C0013393|http://identifiers.org/snomedct/109420003|NCIT:C34560	ordo_group_of_disorders|disease_grouping
HP:0003073	biolink:PhenotypicFeature	Hypoalbuminemia	Reduction in the concentration of albumin in the blood.	MSH:D034141|SNOMEDCT_US:119247004|UMLS:C0239981	mondo.json	Hypoalbuminaemia|Low blood albumin|Low albumin	http://purl.obolibrary.org/obo/HP_0003073		
HGNC:18129	biolink:NamedThing	GHRL			mondo.json		http://identifiers.org/hgnc/18129		
HP:0003072	biolink:PhenotypicFeature	Hypercalcemia	An abnormally increased calcium concentration in the blood.	SNOMEDCT_US:66931009|SNOMEDCT_US:166702002|UMLS:C0020437|MSH:D006934	mondo.json	High blood calcium levels|Hypercalcaemia|Increased calcium in blood	http://purl.obolibrary.org/obo/HP_0003072		
MONDO:0018237	biolink:Disease	acrofacial dysostosis		Orphanet:364574|UMLS:C1332140|NCIT:C35795|DOID:0060379	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018237	DOID:0060379|Orphanet:364574|UMLS:C1332140|NCIT:C35795	ordo_group_of_disorders|disease_grouping
MONDO:0021879	biolink:Disease	small cell variant anaplastic large cell lymphoma	A histologic variant of anaplastic large cell lymphoma characterized by the presence of a predominant population of small to medium size malignant cells with irregular nuclei.	MESH:C538255|GARD:0009477|NCIT:C7208|UMLS:C1335983	mondo.json	anaplastic small cell lymphoma|small cell variant anaplastic large cell lymphoma|small cell variant of anaplastic large cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0021879	UMLS:C1335983|http://identifiers.org/mesh/C538255|NCIT:C7208	gard_rare
MONDO:0018236	biolink:Disease	obsolete dysostosis with limb and face anomalies as a major feature		Orphanet:364571	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018236	Orphanet:364571	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
HGNC:18127	biolink:NamedThing	TUBGCP6			mondo.json		http://identifiers.org/hgnc/18127		
MONDO:0018231	biolink:Disease	obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments		Orphanet:364531	mondo.json	primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments|primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments	http://purl.obolibrary.org/obo/MONDO_0018231	Orphanet:364531	ordo_group_of_disorders
HGNC:18124	biolink:NamedThing	P2RY12			mondo.json		http://identifiers.org/hgnc/18124		
MONDO:0018230	biolink:Disease	skeletal dysplasia	Any Mendelian diseases that affects growth and development of the skeleton.	Orphanet:364526	mondo.json	primary bone dysplasia|Mendelian skeletal dysplasia|primary skeletal dysplasia|primary osteodysplasia	http://purl.obolibrary.org/obo/MONDO_0018230	Orphanet:364526	ordo_group_of_disorders|disease_grouping
HP:0003077	biolink:PhenotypicFeature	Hyperlipidemia	An elevated lipid concentration in the blood.	UMLS:C0020473|MSH:D006949|SNOMEDCT_US:55822004	mondo.json	Elevated lipids in blood	http://purl.obolibrary.org/obo/HP_0003077		
MONDO:0018233	biolink:Disease	otopalatodigital syndrome spectrum disorder	Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.	Orphanet:364541|DOID:0111782|UMLS:C2748918	mondo.json	OPSD|OPD spectrum disorder	http://purl.obolibrary.org/obo/MONDO_0018233	DOID:0111782|UMLS:C2748918|Orphanet:364541	ordo_group_of_disorders|disease_grouping
HP:0003076	biolink:PhenotypicFeature	Glycosuria	An increased concentration of glucose in the urine.	UMLS:C0017979|MSH:D006029|SNOMEDCT_US:45154002	mondo.json	Glucosuria|Glucose in urine	http://purl.obolibrary.org/obo/HP_0003076		
HGNC:18122	biolink:NamedThing	SOX17			mondo.json		http://identifiers.org/hgnc/18122		
MONDO:0018232	biolink:Disease	obsolete primary bone dysplasia with micromelia		Orphanet:364536	mondo.json	primary skeletal dysplasia with micromelia|primary osteodysplasia with micromelia	http://purl.obolibrary.org/obo/MONDO_0018232	Orphanet:364536	ordo_group_of_disorders
MONDO:0031230	biolink:Disease	mitochondrial complex II deficiency, nuclear type		OMIMPS:252011	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031230	https://omim.org/phenotypicSeries/PS252011	
MONDO:0006239	biolink:Disease	head and neck paraganglioma	A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas.	EFO:1000288|UMLS:C1333944|NCIT:C5327	mondo.json	paraganglioma of the head and neck|paraganglioma of head and neck|head and neck paraganglioma|craniocervical region paraganglioma|paraganglioma of craniocervical region	http://purl.obolibrary.org/obo/MONDO_0006239	UMLS:C1333944|NCIT:C5327	
MONDO:0006237	biolink:Disease	granulocytic sarcoma	A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)	NCIT:C35815|EFO:1000286	mondo.json	granulocytic sarcoma|sarcoma, granulocytic, malignant	http://purl.obolibrary.org/obo/MONDO_0006237	NCIT:C35815	
MONDO:0006238	biolink:Disease	growth hormone-producing pituitary gland adenoma	An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly.	NCIT:C7461|EFO:1000287|EFO:0004125|SCTID:254957009|Orphanet:96256|DOID:6255|ICD10CM:D35.2	mondo.json	growth hormone-producing adenoma|growth hormone producing pituitary adenoma|somatotrope adenoma|Somatotrophinoma|growth hormone secreting adenoma of pituitary|somatotroph adenoma|growth hormone producing adenoma of the pituitary gland|growth hormone producing adenoma of pituitary gland|growth hormone producing adenoma of pituitary|growth hormone secreting adenoma of the pituitary gland|growth hormone secreting pituitary gland adenoma|growth hormone secreting adenoma of pituitary gland|GH cell adenoma|growth hormone-producing pituitary gland adenoma|growth hormone secreting pituitary adenoma|growth hormone secreting adenoma of the pituitary|growth hormone producing adenoma of the pituitary|growth hormone producing pituitary gland adenoma|somatotropic adenoma	http://purl.obolibrary.org/obo/MONDO_0006238	Orphanet:96256|NCIT:C7461|http://identifiers.org/snomedct/254957009|DOID:6255	disease_grouping|ordo_group_of_disorders
MONDO:0008899	biolink:Disease	camptodactyly syndrome, Guadalajara type 2	Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.	MESH:C567138|GARD:0001068|SCTID:720603002|OMIM:211920|Orphanet:1326	mondo.json	camptodactyly syndrome, Guadalajara, type II|Guadalajara camptodactyly syndrome type II|camptodactyly syndrome Guadalajara type 2|camptodactyly syndrome, Guadalajara, type 2	http://purl.obolibrary.org/obo/MONDO_0008899	Orphanet:1326|http://identifiers.org/snomedct/720603002|https://omim.org/entry/211920|http://identifiers.org/mesh/C567138	ordo_malformation_syndrome|gard_rare
MONDO:0043224	biolink:Disease	multi-infarct dementia	A common form of dementia caused by multiple cortical or subcortical cerebral infarctions.	NCIT:C34522|GARD:0005925|SCTID:56267009|MESH:D015161	mondo.json	Multiinfarct Dementias|dementia, Multiinfarct|lacunar Dementias|multi infarct dementia|dementia multi infarct|arteriosclerotic dementia|dementia, multi infarct|multi-infarcts, dementia|Dementias, multi-infarct|lacunar dementia|Binswanger disease|multi-infarct dementia|dementia multi-infarcts|dementia, lacunar|Multiinfarct dementia|multi-infarct Dementias|Binswanger's disease|multi-infarct, dementia|Dementias, Multiinfarct|dementia multi-infarct|Dementias, lacunar	http://purl.obolibrary.org/obo/MONDO_0043224	NCIT:C34522|http://identifiers.org/snomedct/56267009|http://identifiers.org/mesh/D015161	gard_rare
MONDO:0006235	biolink:Disease	granular cell tumor	An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast.	MESH:C535558|ONCOTREE:GCT|GARD:0009618|DOID:2411|UMLS:C0085167|SCTID:404035005|EFO:1000284|NCIT:C3474|ICD9:215.9|ICDO:9580/0|MESH:D016586	mondo.json	granular cell tumor (morphologic abnormality)|neoplasm of granular cell|granular cell neoplasm|Abrikosov's tumor|giant granulocellular Abrikosov's tumor|Abrikosov’s tumor|Abrikossoff tumor|granular cell tumor|granular cell myoblastoma|granular cell schwannoma|Abrikosoff's tumor|Abrikossoff's tumor|granular cell tumor NOS (morphologic abnormality)|Abrikosoff's granulous cell tumor|GCT|malignant variant of Abrikosov's tumor|granular cell nerve sheath tumor	http://purl.obolibrary.org/obo/MONDO_0006235	http://identifiers.org/mesh/C535558|DOID:2411|http://identifiers.org/snomedct/404035005|http://identifiers.org/mesh/D016586|NCIT:C3474|UMLS:C0085167	gard_rare
GO:0045930	biolink:NamedThing	negative regulation of mitotic cell cycle	Any process that stops, prevents or reduces the rate or extent of progression through the mitotic cell cycle.		mondo.json	negative regulation of progression through mitotic cell cycle|down-regulation of progression through mitotic cell cycle|negative regulation of mitotic cell cycle progression|downregulation of progression through mitotic cell cycle|down regulation of progression through mitotic cell cycle|inhibition of progression through mitotic cell cycle	http://purl.obolibrary.org/obo/GO_0045930		
MONDO:0008898	biolink:Disease	camptodactyly syndrome, Guadalajara type 1	Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.	UMLS:C1859359|GARD:0001067|MESH:C537970|OMIM:211910|Orphanet:1327|SCTID:720602007	mondo.json	camptodactyly syndrome, Guadalajara, type 1|faciothoracoskeletal syndrome|GCS1|camptodactyly syndrome Guadalajara type 1|FTSS|GCS 1|camptodactyly syndrome, Guadalajara, type I	http://purl.obolibrary.org/obo/MONDO_0008898	http://identifiers.org/mesh/C537970|https://omim.org/entry/211910|http://identifiers.org/snomedct/720602007|UMLS:C1859359|Orphanet:1327	ordo_malformation_syndrome|gard_rare
GO:0045931	biolink:NamedThing	positive regulation of mitotic cell cycle	Any process that activates or increases the rate or extent of progression through the mitotic cell cycle.		mondo.json	upregulation of progression through mitotic cell cycle|positive regulation of progression through mitotic cell cycle|up regulation of progression through mitotic cell cycle|stimulation of progression through mitotic cell cycle|up-regulation of progression through mitotic cell cycle|positive regulation of mitotic cell cycle progression|activation of progression through mitotic cell cycle	http://purl.obolibrary.org/obo/GO_0045931		
MONDO:0008897	biolink:Disease	obsolete tumoral calcinosis, hyperphosphatemic, familial, 1			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008897		
MONDO:0006236	biolink:Disease	obsolete granular cell tumor of the neurohypophysis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006236		
MONDO:0008896	biolink:Disease	campomelia, Cumming type	Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.	MESH:C537966|OMIM:211890|UMLS:C1859371|GARD:0001061|SCTID:720599002|Orphanet:1318	mondo.json	campomelia Cumming type|cervical lymphocele with bowed long bones|Cumming syndrome|campomelia, Cumming type|campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys	http://purl.obolibrary.org/obo/MONDO_0008896	http://identifiers.org/mesh/C537966|https://omim.org/entry/211890|UMLS:C1859371|http://identifiers.org/snomedct/720599002|Orphanet:1318	gard_rare|ordo_malformation_syndrome
MONDO:0006233	biolink:Disease	gonadal teratoma	A teratoma that arises from the testis or ovary.	NCIT:C98291|EFO:1000282|UMLS:C3273942	mondo.json	teratoma, gonads|gonadal teratoma	http://purl.obolibrary.org/obo/MONDO_0006233	NCIT:C98291|UMLS:C3273942	
MONDO:0043226	biolink:Disease	postpartum amenorrhea-galactorrhea syndrome		SCTID:85039006|MESH:D002640|GARD:0006037|EFO:1001291	mondo.json	postpartum amenorrhoea-galactorrhea syndrome|persistent postpartum amenorrhea-galactorrhea syndrome|disease, Frommel|postpartum amenorrhea-galactorrhea syndrome|Frommel disease|syndrome, Chiari-Frommel|Chiari-frommel syndrome|disease, Frommel's|Chiari Frommel syndrome|Frommel's disease	http://purl.obolibrary.org/obo/MONDO_0043226	http://identifiers.org/mesh/D002640|http://identifiers.org/snomedct/85039006	gard_rare
MONDO:0006234	biolink:Disease	grade III prostatic intraepithelial neoplasia	High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities.	DOID:8634|EFO:1000283|UMLS:C0154088|NCIT:C3642|ICD10CM:D07.5|SCTID:92691004|ICD9:233.4	mondo.json	stage 0 prostate gland carcinoma|carcinoma in situ of prostate|pin III|prostate gland in situ carcinoma|carcinoma in situ of prostate gland|grade III pin|grade 3 pin|prostate carcinoma in situ|prostate gland carcinoma in situ|grade 3 prostatic intraepithelial neoplasia|adenocarcinoma in situ of prostate|prostate adenocarcinoma in situ|adenocarcinoma in situ of the prostate	http://purl.obolibrary.org/obo/MONDO_0006234	UMLS:C0154088|http://identifiers.org/snomedct/92691004|http://purl.bioontology.org/ontology/ICD10CM/D07.5|DOID:8634|NCIT:C3642	
MONDO:0008895	biolink:Disease	hereditary arterial and articular multiple calcification syndrome	Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.	SCTID:718602007|MESH:C565891|OMIM:211800|DOID:0111582|UMLS:C4305347|UMLS:C1859372|Orphanet:289601|GARD:0010762	mondo.json	arterial calcification due to CD73 deficiency|CALJA|ACDC|arterial calcification and distal joint calcification|arterial calcification due to deficiency of Cd73|calcification of joints and arteries	http://purl.obolibrary.org/obo/MONDO_0008895	DOID:0111582|http://identifiers.org/mesh/C565891|https://omim.org/entry/211800|Orphanet:289601|UMLS:C1859372|http://identifiers.org/snomedct/718602007|UMLS:C4305347	ordo_disease
MONDO:0008894	biolink:Disease	cataract-hypertrichosis-intellectual disability syndrome	Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.	UMLS:C0796282|Orphanet:1375|MESH:C537959|SCTID:722379001|OMIM:211770	mondo.json	cataract, hypertrichosis, mental retardation syndrome|cataract, hypertrichosis, intellectual disability syndrome|CAHMR syndrome	http://purl.obolibrary.org/obo/MONDO_0008894	http://identifiers.org/mesh/C537959|https://omim.org/entry/211770|http://identifiers.org/snomedct/722379001|UMLS:C0796282|Orphanet:1375	ordo_malformation_syndrome
MONDO:0006231	biolink:Disease	gastrointestinal hamartoma	A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps.	EFO:1000280|UMLS:C3272802|NCIT:C96475	mondo.json	gastrointestinal hamartoma	http://purl.obolibrary.org/obo/MONDO_0006231	NCIT:C96475|UMLS:C3272802	
MONDO:0008893	biolink:Disease	C syndrome	C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.	Orphanet:1308|DOID:0111581|SCTID:715409005|OMIM:211750|MESH:C537418|UMLS:C0796095|GARD:0005978	mondo.json	OTCS|C syndrome|trigonocephaly syndrome|Opitz trigonocephaly syndrome|Opitz C trigonocephaly|trigonocephaly C syndrome|Opitz trigonocephaly C syndrome	http://purl.obolibrary.org/obo/MONDO_0008893	DOID:0111581|https://omim.org/entry/211750|UMLS:C0796095|http://identifiers.org/snomedct/715409005|Orphanet:1308|http://identifiers.org/mesh/C537418	gard_rare|ordo_malformation_syndrome
MONDO:0006232	biolink:Disease	giant cell tumor of soft tissue	A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes.	NCIT:C49107|EFO:1000281|UMLS:C0334553|ICDO:9251/1	mondo.json	GCT-ST|giant cell tumor of soft tissue|Osteoclastoma of soft tissue	http://purl.obolibrary.org/obo/MONDO_0006232	NCIT:C49107|UMLS:C0334553	
MONDO:0008892	biolink:Disease	progressive familial intrahepatic cholestasis type 1	PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.	GARD:0009802|UMLS:CN205891|OMIM:211600|Orphanet:79306|DOID:0070226	mondo.json	cholestasis, progressive familial intrahepatic, 1|severe ATP8B1 deficiency|cholestasis, fatal intrahepatic|Byler disease|progressive familial intrahepatic cholestasis|FIC1 deficiency|Byler's disease|PFIC1|cholestasis, progressive familial intrahepatic, type 1|cholestasis, progressive familial intrahepatic 1	http://purl.obolibrary.org/obo/MONDO_0008892	https://omim.org/entry/211600|Orphanet:79306|UMLS:CN205891|DOID:0070226	ordo_clinical_subtype|gard_rare
MONDO:0006230	biolink:Disease	gastric squamous cell carcinoma	A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body.	UMLS:C1333789|Orphanet:418959|SCTID:766980008|UMLS:CN237470|NCIT:C5475|DOID:5516|EFO:1000278	mondo.json	gastric (stomach) squamous cell cancer|squamous cell carcinoma of stomach|squamous cell carcinoma of the stomach|gastric squamous cell carcinoma|stomach squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006230	UMLS:CN237470|Orphanet:418959|NCIT:C5475|http://identifiers.org/snomedct/766980008|UMLS:C1333789|DOID:5516	ordo_disease
MONDO:0008891	biolink:Disease	riboflavin transporter deficiency	A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.	DOID:0050694|Orphanet:97229|MESH:C537111|GARD:0009993|OMIMPS:211530|SCTID:699866005	mondo.json	disorder of riboflavin transmembrane transporter activity|BVVLS|progressive bulbar palsy with sensorineural deafness|riboflavin transmembrane transporter activity disease|pontobulbar palsy and neurosensory deafness|Brown-Vialetto-Van Laere syndrome 1|Brown-Vialetto-van Laere syndrome|BVVLS1|sensorineural hearing loss-pontobulbar palsy syndrome|Fazio-Londe syndrome	http://purl.obolibrary.org/obo/MONDO_0008891	https://omim.org/phenotypicSeries/PS211530|http://identifiers.org/snomedct/699866005|http://identifiers.org/mesh/C537111|Orphanet:97229|DOID:0050694	ordo_malformation_syndrome
MONDO:0008890	biolink:Disease	progressive bulbar palsy	Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms.	EFO:0003783|GARD:0010928|DOID:681|NCIT:C85026|UMLS:C0030442|MESH:D010244|ICD10CM:G12.22|SCTID:54304004|ICD9:335.22	mondo.json	Fazio-Londe disease|bulbar palsy, progressive, of childhood|progressive bulbar atrophy	http://purl.obolibrary.org/obo/MONDO_0008890	NCIT:C85026|http://identifiers.org/mesh/D010244|http://identifiers.org/snomedct/54304004|UMLS:C0030442|http://purl.bioontology.org/ontology/ICD10CM/G12.22|DOID:681	gard_rare
GO:0045938	biolink:NamedThing	positive regulation of circadian sleep/wake cycle, sleep	Any process that activates or increases the duration or quality of sleep, a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals.		mondo.json	activation of circadian sleep/wake cycle, sleep|stimulation of circadian sleep/wake cycle, sleep|upregulation of circadian sleep/wake cycle, sleep|positive regulation of sleep|up-regulation of circadian sleep/wake cycle, sleep|up regulation of circadian sleep/wake cycle, sleep	http://purl.obolibrary.org/obo/GO_0045938		
GO:0045939	biolink:NamedThing	negative regulation of steroid metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving steroids.		mondo.json	down-regulation of steroid metabolic process|down regulation of steroid metabolic process|negative regulation of steroid metabolism|inhibition of steroid metabolic process|downregulation of steroid metabolic process	http://purl.obolibrary.org/obo/GO_0045939		
GO:0045936	biolink:NamedThing	negative regulation of phosphate metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving phosphates.		mondo.json	down regulation of phosphate metabolic process|downregulation of phosphate metabolic process|inhibition of phosphate metabolic process|negative regulation of phosphate metabolism|down-regulation of phosphate metabolic process	http://purl.obolibrary.org/obo/GO_0045936		
GO:0045937	biolink:NamedThing	positive regulation of phosphate metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving phosphates.		mondo.json	upregulation of phosphate metabolic process|up-regulation of phosphate metabolic process|up regulation of phosphate metabolic process|activation of phosphate metabolic process|stimulation of phosphate metabolic process|positive regulation of phosphate metabolism	http://purl.obolibrary.org/obo/GO_0045937		
GO:0045934	biolink:NamedThing	negative regulation of nucleobase-containing compound metabolic process	Any cellular process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids.		mondo.json	inhibition of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|downregulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|down-regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|down regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|negative regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism|negative regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	http://purl.obolibrary.org/obo/GO_0045934		
MONDO:0018228	biolink:Disease	bipartite talus	Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.	Orphanet:364198|UMLS:CN227287|SCTID:763128009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018228	http://identifiers.org/snomedct/763128009|Orphanet:364198|UMLS:CN227287	ordo_morphological_anomaly
MONDO:0018227	biolink:Disease	hypocomplementemic urticarial vasculitis	Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.	GARD:0006725|UMLS:C0343206|Orphanet:36412|SCTID:239945009|UMLS:CN204757	mondo.json	Mac Duffie hypocomplementemic urticarial vasculitis|anti-C1q vasculitis|McDuffie syndrome|McDuffie hypocomplementemic urticarial vasculitis|Mac Duffie syndrome	http://purl.obolibrary.org/obo/MONDO_0018227	UMLS:C0343206|http://identifiers.org/snomedct/239945009|Orphanet:36412|UMLS:CN204757	gard_rare|ordo_disease
GO:0045935	biolink:NamedThing	positive regulation of nucleobase-containing compound metabolic process	Any cellular process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids.		mondo.json	up-regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|positive regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism|up regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|activation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|stimulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|upregulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|positive regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	http://purl.obolibrary.org/obo/GO_0045935		
MONDO:0043219	biolink:Disease	migraine with brainstem aura	A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem.	SCTID:83351003|NCIT:C117013|OMIM:602481|GARD:0005896	mondo.json	vertebrobasilar migraine|MBA|brainstem migraine|bickerstaff's migraine|basilar artery migraine with aura|basilar-type migraine|basilar artery migraine|basilar migraine|Bickerstaff migraine	http://purl.obolibrary.org/obo/MONDO_0043219	NCIT:C117013|http://identifiers.org/snomedct/83351003	gard_rare
GO:0045932	biolink:NamedThing	negative regulation of muscle contraction	Any process that stops, prevents, or reduces the frequency, rate or extent of muscle contraction.		mondo.json	downregulation of muscle contraction|down regulation of muscle contraction|inhibition of muscle contraction|down-regulation of muscle contraction	http://purl.obolibrary.org/obo/GO_0045932		
MONDO:0018229	biolink:Disease	Stevens-Johnson syndrome	Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.	MedDRA:10042033|SCTID:73442001|NCIT:C79484|OMIM:608579|GARD:0007700|Orphanet:36426|ICD9:695.12|ICD10CM:L51.1|ICD9:695.13|UMLS:C0038325|MESH:D013262|DOID:0050426|EFO:0004276|ICD9:695.15	mondo.json	erythema multiforme major|Stevens Johnson syndrome|toxic Epidermal necrolysis, susceptibility to|severe cutaneous adverse reaction, susceptibility to|hypersensitivity syndrome, carbamazepine-induced, susceptibility to|Stevens-Johnson syndrome, susceptibility to|Dermatostomatitis, Stevens Johnson type	http://purl.obolibrary.org/obo/MONDO_0018229	http://identifiers.org/mesh/D013262|UMLS:C0038325|DOID:0050426|http://purl.bioontology.org/ontology/ICD10CM/L51.1|Orphanet:36426|https://omim.org/entry/608579|NCIT:C79484|http://identifiers.org/snomedct/73442001	ordo_clinical_subtype
GO:0045933	biolink:NamedThing	positive regulation of muscle contraction	Any process that activates or increases the frequency, rate or extent of muscle contraction.		mondo.json	up regulation of muscle contraction|stimulation of muscle contraction|up-regulation of muscle contraction|activation of muscle contraction|upregulation of muscle contraction	http://purl.obolibrary.org/obo/GO_0045933		
MONDO:0043218	biolink:Disease	neurovascular disorder	A disorder of the nervous system related to a vascular etiology.	UMLS:C3898144|NCIT:C117007	mondo.json	nervous system disorder of vasculature|disease of nervous system vasculature|vasculature nervous system disorder|neurovascular disorder	http://purl.obolibrary.org/obo/MONDO_0043218	NCIT:C117007|UMLS:C3898144	
MONDO:0018224	biolink:Disease	hydroa vacciniforme-like lymphoma	A rare, EBV-positive cutaneous T-cell lymphoproliferative disorder, composed of CD8 positive cytotoxic T-lymphocytes. It affects children, almost exclusively in Latin America and Asia. Patients present with papulovesicular skin lesions, clinically resembling hydroa vacciniforme, in areas of sun-exposed skin.	ICDO:9725/3|NCIT:C45327|UMLS:C1708397|SCTID:763719001|Orphanet:364039	mondo.json	HVLL|angiocentric cutaneous T-cell lymphoma of childhood|hV-like lymphoma|hydroa vacciniforme-like cutaneous T-cell lymphoma|hydroa-like cutaneous T-cell lymphoma|hydroa vacciniforme-like lymphoma|hydroa vacciniforme-like lymphoproliferative disorder	http://purl.obolibrary.org/obo/MONDO_0018224	NCIT:C45327|http://identifiers.org/snomedct/763719001|Orphanet:364039|UMLS:C1708397	ordo_disease
MONDO:0018223	biolink:Disease	systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood	Systemic Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disease of childhood is a rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype.	UMLS:CN204753|ICDO:9724/3|SCTID:721311006|Orphanet:364033|DOID:0070324|NCIT:C80374	mondo.json	systemic EBV-positive T-cell lymphoma of childhood|systemic EBV-positive T-cell lymphoproliferative disorder of childhood|systemic EBV+ T-cell LPD of childhood|systemic EBV-positive T-cell lymphoproliferative disease of childhood|EBV-positive T-cell lymphoproliferative disorder of childhood	http://purl.obolibrary.org/obo/MONDO_0018223	DOID:0070324|UMLS:CN204753|http://identifiers.org/snomedct/721311006|Orphanet:364033|NCIT:C80374	ordo_disease
MONDO:0018226	biolink:Disease	infantile epileptic-dyskinetic encephalopathy	Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.	Orphanet:364063|OMIM:308350|MESH:C567924	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018226	http://identifiers.org/mesh/C567924|Orphanet:364063	ordo_disease
MONDO:0018225	biolink:Disease	ALK-positive large B-cell lymphoma	Anaplastic lymphoma kinase (ALK)-positive diffuse large B-cell lymphoma is a very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis.	SCTID:715950008|Orphanet:364043|NCIT:C7225|UMLS:C1333294|ICDO:9737/3	mondo.json	ALK-DLBCL|diffuse large B-cell lymphoma with expression of full-length anaplastic lymphoma kinase|ALK-positive large B-cell lymphoma|diffuse large B-cell lymphoma with expression of full-length ALK|ALK+ large B-cell lymphoma|ALK+ LBCL	http://purl.obolibrary.org/obo/MONDO_0018225	NCIT:C7225|http://identifiers.org/snomedct/715950008|Orphanet:364043|UMLS:C1333294	ordo_disease
MONDO:0018220	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0018220		
MONDO:0018222	biolink:Disease	X-linked intellectual disability due to GRIA3 anomalies		Orphanet:364028	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018222	Orphanet:364028	ordo_disease
MONDO:0018221	biolink:Disease	immune hydrops fetalis	Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility.	NCIT:C111904|Orphanet:364013|SCTID:15539009|UMLS:C0455990|ICD9:773.3	mondo.json	immune fetal edema|immune HF|IHF|immune fetal hydrops	http://purl.obolibrary.org/obo/MONDO_0018221	http://identifiers.org/snomedct/15539009|Orphanet:364013|UMLS:C0455990|NCIT:C111904	ordo_clinical_subtype
MONDO:0006248	biolink:Disease	hydatidiform mole	A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes.	EFO:1000298|ICD9:631|ONCOTREE:MP|MedDRA:10020481|SCTID:44782008|GARD:0010263|ICDO:9100/0|MESH:D006828|OMIMPS:231090|NCIT:C3110|Orphanet:99927|UMLS:C0020217	mondo.json	HYDM|molar pregnancy|hydatid mole|hydatidiform mole, recurrent|hydatidiform mole	http://purl.obolibrary.org/obo/MONDO_0006248	Orphanet:99927|http://identifiers.org/snomedct/44782008|http://identifiers.org/mesh/D006828|UMLS:C0020217|NCIT:C3110|https://omim.org/phenotypicSeries/PS231090	ordo_disease
MONDO:0006249	biolink:Disease	hyperplastic polyp	A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000).	EFO:1000299|NCIT:C4083|UMLS:C0333983	mondo.json	HP|metaplastic polyp|MP	http://purl.obolibrary.org/obo/MONDO_0006249	NCIT:C4083|UMLS:C0333983	
MONDO:0006246	biolink:Disease	high grade surface osteosarcoma	A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.	EFO:1000296|UMLS:C1266165|ICDO:9194/3|NCIT:C53958|ONCOTREE:HGSOS	mondo.json	high-grade surface osteosarcoma|high grade surface osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0006246	NCIT:C53958|UMLS:C1266165	
MONDO:0006247	biolink:Disease	histiocytic and dendritic cell neoplasm	Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)	EFO:1000297|DOID:5621|UMLS:C1334030|NCIT:C9294|UMLS:CN206982|Orphanet:98287	mondo.json	histiocytic and dendritic cell cancer|histiocytic and Dendritic cell tumors|histiocytic and Dendritic cell neoplasms|histiocytic and dendritic cell tumor|histiocytic and dendritic cell|histiocytic and dendritic cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0006247	DOID:5621|UMLS:CN206982|UMLS:C1334030|NCIT:C9294|Orphanet:98287	ordo_group_of_disorders|disease_grouping
MONDO:0043237	biolink:Disease	glossodynia	Painful sensations in the tongue, including a sensation of burning.	GARD:0006518|SCTID:30731004|MESH:D005926	mondo.json	Glossopyroses|glossopyrosis|glossodynia|soreness of tongue|painful tongue|Glossalgias|Glossodynias|glossalgia	http://purl.obolibrary.org/obo/MONDO_0043237	http://identifiers.org/snomedct/30731004|http://identifiers.org/mesh/D005926	gard_rare
MONDO:0006244	biolink:Disease	HER2 positive breast carcinoma	A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER).	DOID:0060079|EFO:1000294|SCTID:427685000|UMLS:C1960398|NCIT:C53556	mondo.json	HER2 Overexpressing subtype of breast carcinoma|Her2-receptor positive breast cancer|HER2 Overexpressing breast carcinoma|ERBB2 Overexpressing subtype of breast carcinoma|HER2 positive breast carcinoma|HER2 Positive breast cancer	http://purl.obolibrary.org/obo/MONDO_0006244	http://identifiers.org/snomedct/427685000|DOID:0060079|UMLS:C1960398|NCIT:C53556	
MONDO:0006245	biolink:Disease	hidradenocarcinoma	A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes.	NCIT:C54664|ICDO:8402/3|EFO:1000295|GARD:0010439	mondo.json	clear cell eccrine carcinoma|hidradenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006245	NCIT:C54664	
GO:0045940	biolink:NamedThing	positive regulation of steroid metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving steroids.		mondo.json	up-regulation of steroid metabolic process|positive regulation of steroid metabolism|up regulation of steroid metabolic process|activation of steroid metabolic process|stimulation of steroid metabolic process|upregulation of steroid metabolic process	http://purl.obolibrary.org/obo/GO_0045940		
MONDO:0006242	biolink:Disease	obsolete hepatoblastoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006242		
FOODON:00002196	biolink:NamedThing	refined or partially-refined food product			mondo.json		http://purl.obolibrary.org/obo/FOODON_00002196		
MONDO:0043230	biolink:Disease	ciguatera fish poisoning	Poisoning caused by ingestion of seafood containing microgram levels of ciguatoxins. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances.	SCTID:241774007|GARD:0006113|MESH:D036841	mondo.json	ciguatera|ciguatera Poisonings|ciguatoxin causing toxic effect|ciguatera fish poisoning|poisoning, ciguatera fish|Poisonings, ciguatera fish|ciguatera poisoning|Poisonings, ciguatera|poisoning, ciguatera|toxic effect of ciguatera fish poisoning|ciguatera fish Poisonings	http://purl.obolibrary.org/obo/MONDO_0043230	http://identifiers.org/snomedct/241774007|http://identifiers.org/mesh/D036841	gard_rare
MONDO:0006243	biolink:Disease	hepatoid adenocarcinoma	An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver.	UMLS:C1266090|ICDO:8576/3|EFO:1000293|NCIT:C66950|DOID:0060534	mondo.json	hepatoid adenocarcinoma|hepatoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0006243	DOID:0060534|NCIT:C66950|UMLS:C1266090	
MONDO:0043233	biolink:Disease	exfoliative dermatitis	The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)	MESH:D003873|SCTID:399992009|UMLS:C0011606|NCIT:C39646|GARD:0006393	mondo.json	exfoliative dermatitis|dermatitis exfoliativa|Erythrodermas|erythroderma|exfoliative Dermatitides|Dermatitides, exfoliative	http://purl.obolibrary.org/obo/MONDO_0043233	UMLS:C0011606|NCIT:C39646|http://identifiers.org/snomedct/399992009|http://identifiers.org/mesh/D003873	gard_rare
MONDO:0006240	biolink:Disease	obsolete hemangiopericytic neoplasm			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006240		
MONDO:0006241	biolink:Disease	hepatic granuloma	A granuloma located in the liver.	EFO:1000291|ICD9:572.8|SCTID:714253009|UMLS:C0745754	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006241	http://identifiers.org/snomedct/714253009|UMLS:C0745754	
GO:0045947	biolink:NamedThing	negative regulation of translational initiation	Any process that stops, prevents, or reduces the frequency, rate or extent of translational initiation.		mondo.json	down regulation of translational initiation|inhibition of translational initiation|down-regulation of translational initiation|downregulation of translational initiation	http://purl.obolibrary.org/obo/GO_0045947		
GO:0045948	biolink:NamedThing	positive regulation of translational initiation	Any process that activates or increases the frequency, rate or extent of translational initiation.		mondo.json	upregulation of translational initiation|up regulation of translational initiation|stimulation of translational initiation|up-regulation of translational initiation|activation of translational initiation	http://purl.obolibrary.org/obo/GO_0045948		
MONDO:0018217	biolink:Disease	Koolen-de Vries syndrome due to a point mutation		UMLS:CN204741|Orphanet:363965	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018217	Orphanet:363965|UMLS:CN204741	ordo_etiological_subtype
MONDO:0018216	biolink:Disease	Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome		UMLS:CN204740|UMLS:C1864871|DOID:0070076|MESH:C566476|DOID:0050880|DECIPHER:57|SCTID:717338006|Orphanet:363958	mondo.json	Del(17)(q21.31)|monosomy 17q21.31|17q21.31 recurrent microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0018216	http://identifiers.org/mesh/C566476|Orphanet:363958|DOID:0050880|UMLS:C1864871|http://identifiers.org/snomedct/717338006	ordo_etiological_subtype
MONDO:0018219	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0018219		
GO:0045944	biolink:NamedThing	positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.		mondo.json	up-regulation of global transcription from RNA polymerase II promoter|upregulation of transcription from RNA polymerase II promoter|activation of transcription from RNA polymerase II promoter|stimulation of transcription from RNA polymerase II promoter|activation of global transcription from RNA polymerase II promoter|upregulation of global transcription from RNA polymerase II promoter|positive regulation of global transcription from Pol II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter|up-regulation of transcription from RNA polymerase II promoter|stimulation of global transcription from RNA polymerase II promoter|up regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter, global|positive regulation of transcription from Pol II promoter|positive regulation of transcription from RNA polymerase II promoter|up regulation of global transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0045944		
MONDO:0018218	biolink:Disease	autosomal recessive cerebral atrophy		UMLS:CN204742|Orphanet:363969	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018218	Orphanet:363969|UMLS:CN204742	ordo_disease
MONDO:0018213	biolink:Disease	hereditary sensory and autonomic neuropathy type 1	Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.	GARD:6635|PMID:18348718|SCTID:397734008|GARD:0006635|DOID:0070162|Orphanet:36386	mondo.json	HSAN 1|hereditary sensory and autonomic neuropathy type I|HSAN1|neuropathy hereditary sensory and autonomic type 1|HSN1|neuropathy hereditary sensory radicular, autosomal dominant|hereditary sensory neuropathy type 1	http://purl.obolibrary.org/obo/MONDO_0018213	Orphanet:36386|http://identifiers.org/snomedct/397734008|DOID:0070162	ordo_disease
MONDO:0031257	biolink:Disease	high altitude pulmonary edema	A rare pulmonary condition characterized by non-cardiogenic pulmonary edema occurring in otherwise healthy individuals within days of an ascent above 2500-3000 m. Early symptoms include exertional dyspnea, non-productive cough, chest tightness, and reduced exercise performance, followed by dyspnea at rest and possibly orthopnea, as well as gurgling in the chest and pink frothy sputum in advanced cases. Clinical signs are cyanosis, tachypnea, tachycardia, crackles or wheezing, and elevated body temperature (generally not exceeding 38.5°C). Signs of concomitant high-altitude cerebral edema may also be observed. Chest x-rays typically show patchy opacities predominantly in the right middle lobe.	Orphanet:330012	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031257	Orphanet:330012	ordo_disorder
GO:0031399	biolink:NamedThing	regulation of protein modification process	Any process that modulates the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein.		mondo.json		http://purl.obolibrary.org/obo/GO_0031399		
MONDO:0018212	biolink:Disease	familial cervical artery dissection	An instance of cervical artery dissection that is caused by an inherited modification of the individual's genome.	Orphanet:36382|UMLS:CN204734	mondo.json	familial CAD|hereditary CAD|hereditary cervical artery dissection	http://purl.obolibrary.org/obo/MONDO_0018212	Orphanet:36382|UMLS:CN204734	ordo_disease
MONDO:0018215	biolink:Disease	paraneoplastic neurologic syndrome	A paraneoplastic syndrome that involves the nervous system.	ICD9:331.89|MedDRA:10072106|GARD:0007326|SCTID:192877007|Orphanet:36388	mondo.json	paraneoplastic cerebellar degeneration|paraneoplastic syndrome of nervous system|PNS|nervous system paraneoplastic syndrome|PCD	http://purl.obolibrary.org/obo/MONDO_0018215	http://identifiers.org/snomedct/192877007|Orphanet:36388	disease_grouping|ordo_group_of_disorders
MONDO:0021856	biolink:Disease	Alsing syndrome	An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion.	MESH:C536588|UMLS:C2931255|GARD:0009213	mondo.json	atypical macular coloboma, familial juvenile nephronophthisis and skeletal abnormality	http://purl.obolibrary.org/obo/MONDO_0021856	UMLS:C2931255|http://identifiers.org/mesh/C536588	gard_rare
MONDO:0018214	biolink:Disease	generalized epilepsy with febrile seizures plus	A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS).	Orphanet:36387|MESH:C565808|NCIT:C122811|OMIMPS:604233|UMLS:C3502809|SCTID:699688008|DOID:0060170	mondo.json	generalized epilepsy with febrile seizures plus|generalized epilepsy with febrile seizures-plus|GEFS+|genetic epilepsy with febrile seizures plus|genetic epilepsy with febrile seizures-plus|epilepsy, generalized, with febrile seizures plus	http://purl.obolibrary.org/obo/MONDO_0018214	NCIT:C122811|https://omim.org/phenotypicSeries/PS604233|http://identifiers.org/snomedct/699688008|UMLS:C3502809|http://identifiers.org/mesh/C565808|DOID:0060170|Orphanet:36387	ordo_disease
MONDO:0018211	biolink:Disease	Balint syndrome	Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time.	SCTID:765212008|UMLS:C0270706|Orphanet:363746	mondo.json	psychic paralysis of visual fixation|Balint-Holmes syndrome|optic ataxia-gaze apraxia-simultanagnosia syndrome	http://purl.obolibrary.org/obo/MONDO_0018211	Orphanet:363746|http://identifiers.org/snomedct/765212008	ordo_disease
MONDO:0018210	biolink:Disease	Alexander disease type II	Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.	UMLS:CN204730|Orphanet:363722	mondo.json	AxD type II	http://purl.obolibrary.org/obo/MONDO_0018210	UMLS:CN204730|Orphanet:363722	ordo_clinical_subtype
MONDO:0018282	biolink:Disease	qualitative or quantitative defects of alpha-dystroglycan		Orphanet:371024	mondo.json	dystroglycanopathy|alpha-dystroglycanopathy	http://purl.obolibrary.org/obo/MONDO_0018282	Orphanet:371024	disease_grouping|ordo_group_of_disorders
MONDO:0033839	biolink:Disease	osteoradionecrosis of the mandible		Orphanet:521127	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033839	Orphanet:521127	ordo_disease
MONDO:0018281	biolink:Disease	congenital muscular dystrophy with hyperlaxity	Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time.	Orphanet:371007|SCTID:763314009	mondo.json	CMDH	http://purl.obolibrary.org/obo/MONDO_0018281	Orphanet:371007|http://identifiers.org/snomedct/763314009	ordo_disease
MONDO:0018284	biolink:Disease	obsolete congenital disorder of glycosylation with neurological involvement		Orphanet:371047	mondo.json	CDG with neurological involvement	http://purl.obolibrary.org/obo/MONDO_0018284	Orphanet:371047	ordo_group_of_disorders
MONDO:0033838	biolink:Disease	radiation-induced plexopathy		Orphanet:521123	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033838	Orphanet:521123	ordo_disease
MONDO:0018283	biolink:Disease	primary qualitative or quantitative defects of alpha-dystroglycan		Orphanet:371040	mondo.json	primary dystroglycanopathy|primary alpha-dystroglycanopathy	http://purl.obolibrary.org/obo/MONDO_0018283	Orphanet:371040	ordo_group_of_disorders|disease_grouping
MONDO:0018280	biolink:Disease	muscle-eye-brain disease with bilateral multicystic leucodystrophy	Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts.	OMIM:616538|Orphanet:370997	mondo.json	MEB disease with bilateral multicystic leucodystrophy	http://purl.obolibrary.org/obo/MONDO_0018280	Orphanet:370997	ordo_disease
MONDO:0006299	biolink:Disease	obsolete mediastinal neuroblastoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006299		
MONDO:0006297	biolink:Disease	maxillary sinus adenoid cystic carcinoma	An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course.	DOID:7198|NCIT:C6239|UMLS:C1334643|EFO:1000365	mondo.json	adenoid cystic carcinoma of maxillary sinus|maxillary sinus adenoid cystic carcinoma|adenoid cystic carcinoma of the maxillary sinus	http://purl.obolibrary.org/obo/MONDO_0006297	DOID:7198|UMLS:C1334643|NCIT:C6239	
NCBITaxon:9903	biolink:OrganismalEntity	Bos		GC_ID:1	mondo.json	oxen, cattle	http://purl.obolibrary.org/obo/NCBITaxon_9903		
MONDO:0006298	biolink:Disease	mediastinal malignant germ cell tumor	An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma.	EFO:1000366|SCTID:713293002|NCIT:C6446|UMLS:C1334597	mondo.json	malignant germ cell tumor of the mediastinum|malignant germ cell tumor of mediastinum|mediastinal malignant germ cell tumor|thymic malignant germ cell tumor|malignant germ cell neoplasm of the mediastinum|malignant mediastinal germ cell neoplasm|malignant germ cell neoplasm of mediastinum|malignant mediastinal germ cell tumor|mediastinal germ cell tumor, malignant	http://purl.obolibrary.org/obo/MONDO_0006298	UMLS:C1334597|http://identifiers.org/snomedct/713293002|NCIT:C6446	
MONDO:0006295	biolink:Disease	malignant urinary system neoplasm	A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas.	DOID:3996|NCIT:C9297|EFO:1000363|ICD9:189.9|SCTID:448233000|ICD10CM:C64-C68	mondo.json	malignant renal system neoplasm|malignant neoplasm of renal system|urinary system cancer|malignant urinary tract neoplasm|malignant urinary system neoplasm|cancer of renal system|renal system cancer	http://purl.obolibrary.org/obo/MONDO_0006295	NCIT:C9297|http://identifiers.org/snomedct/448233000|DOID:3996|http://purl.bioontology.org/ontology/ICD10CM/C64-C68	
MONDO:0006296	biolink:Disease	obsolete mast cell sarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006296		
MONDO:0006293	biolink:Disease	obsolete malignant mixed neoplasm			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006293		
MONDO:0006294	biolink:Disease	pleural cancer	A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site.	ICD9:163.9|ICD10CM:C38.4|ICD9:163.8|ICD9:163|NCIT:C3547|EFO:1000362|DOID:5158|UMLS:C0153494|SCTID:363433009	mondo.json	malignant tumor of the pleura|malignant pleura neoplasm|malignant pleural tumor|malignant neoplasm of pleura|pleural cancer|malignant neoplasm of the pleura|neoplasm of pleura|malignant pleural neoplasm|pleural tumor|cancer of pleura|pleura cancer|cancer of the pleura|malignant tumor of pleura	http://purl.obolibrary.org/obo/MONDO_0006294	NCIT:C3547|DOID:5158|http://purl.bioontology.org/ontology/ICD10CM/C38.4|http://identifiers.org/snomedct/363433009|UMLS:C0153494	
MONDO:0006291	biolink:Disease	malignant jugulotympanic paraganglioma	A jugulotympanic paraganglioma that metastasizes to other anatomic sites.	EFO:1000353|NCIT:C4623|UMLS:C0347856	mondo.json	malignant glomus jugulare tumor|malignant jugular body neoplasm|malignant tumor of the glomus jugulare|cancer of jugular body|malignant tumor of glomus jugulare|malignant glomus jugulare neoplasm|malignant neoplasm of jugular body|malignant neoplasm of the glomus jugulare|jugular body cancer|malignant neoplasm of glomus jugulare|malignant jugulotympanic paraganglioma	http://purl.obolibrary.org/obo/MONDO_0006291	NCIT:C4623|UMLS:C0347856	
GO:0070914	biolink:NamedThing	UV-damage excision repair	A DNA repair process that is initiated by an endonuclease that introduces a single-strand incision immediately 5' of a UV-induced damage site. UV-damage excision repair acts on both cyclobutane pyrimidine dimers (CPDs) and pyrimidine-pyrimidone 6-4 photoproducts (6-4PPs).		mondo.json	AER|alternative excision repair|UV-damaged DNA endonuclease-dependent excision repair|UVDE-dependent excision repair|UVER	http://purl.obolibrary.org/obo/GO_0070914		
MONDO:0006292	biolink:Disease	malignant mesothelioma	A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos.	GARD:0007026|ICDO:9050/3|UMLS:C0278752|MedDRA:10027406|EFO:1000355|NCIT:C4456|UMLS:C0345967|ICD9:199.1|MESH:C562839|SCTID:109378008|OMIM:156240|DOID:1790|UMLS:C1332338|HP:0100001|Orphanet:50251	mondo.json	malignant mesothelioma|malignant tumor of the mesothelium|asbestos-related malignant mesothelioma|malignant mesothelioma (disease)|diffuse malignant mesothelioma|mesothelioma, malignant|MESOM|malignant tumor of mesothelium|mesothelioma, somatic|malignant mesothelial neoplasm|malignant mesothelial tumor|malignant neoplasm of the mesothelium|malignant neoplasm of mesothelium|advanced malignant mesothelioma	http://purl.obolibrary.org/obo/MONDO_0006292	UMLS:C1332338|UMLS:C0345967|UMLS:C0278752|http://identifiers.org/snomedct/109378008|https://omim.org/entry/156240|DOID:1790|http://identifiers.org/mesh/C562839|NCIT:C4456|Orphanet:50251	ordo_disease
MONDO:0006290	biolink:Disease	malignant germ cell tumor	A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma.	NCIT:C4925|EFO:1000352|UMLS:C4048549|GARD:0003360|SCTID:145831000119103	mondo.json	malignant tumor of the germ cell|malignant tumor of germ cell|malignant germ cell neoplasm|germ cell tumor, malignant|malignant neoplasm of germ cell|germ cell cancer|malignant neoplasm of the germ cell|cancer of germ cell|malignant germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0006290	http://identifiers.org/snomedct/145831000119103|UMLS:C4048549|NCIT:C4925	gard_rare
MONDO:0018289	biolink:Disease	obsolete congenital disorder of glycosylation with dilated cardiomyopathy		Orphanet:371176	mondo.json	CDG with dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0018289	Orphanet:371176	ordo_group_of_disorders
MONDO:0018286	biolink:Disease	obsolete non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature		Orphanet:371064	mondo.json	non-X-linked CDG with intellectual disability as a major feature	http://purl.obolibrary.org/obo/MONDO_0018286	Orphanet:371064	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0018285	biolink:Disease	obsolete X-linked congenital disorder of glycosylation with intellectual disability as a major feature		Orphanet:371054	mondo.json	X-linked CDG with intellectual disability as a major feature	http://purl.obolibrary.org/obo/MONDO_0018285	Orphanet:371054	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0018288	biolink:Disease	obsolete congenital disorder of glycosylation with hepatic involvement		Orphanet:371157	mondo.json	CDG with hepatic involvement	http://purl.obolibrary.org/obo/MONDO_0018288	Orphanet:371157	ordo_group_of_disorders
MONDO:0018287	biolink:Disease	obsolete congenital disorder of glycosylation with epilepsy as a major feature		Orphanet:371071	mondo.json	CDG with epilepsy as a major feature	http://purl.obolibrary.org/obo/MONDO_0018287	Orphanet:371071	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0018271	biolink:Disease	peripheral primitive neuroectodermal tumor	A small round cell tumor with neural differentiation arising from the soft tissues or bone.	ICDO:9364/3|UMLS:C3489398|NCIT:C9341|UMLS:C0684337|Orphanet:370348	mondo.json	PPNET|peripheral neuroectodermal neoplasm|pPNET|peripheral primitive neuroectodermal tumor|peripheral PNET|peripheral neuroepithelioma|peripheral primitive neuroectodermal neoplasm|peripheral neuroectodermal tumor	http://purl.obolibrary.org/obo/MONDO_0018271	NCIT:C9341|UMLS:C3489398|UMLS:C0684337|Orphanet:370348	ordo_disease
MONDO:0018270	biolink:Disease	extraskeletal Ewing sarcoma	A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy.	Orphanet:370334|NCIT:C7135|UMLS:C0279980|DOID:4232|UMLS:CN204849	mondo.json	extraosseous Ewing's sarcoma|extraskeletal Ewing tumor|extraosseous Ewing's tumor|extraosseous Ewing tumor|extraosseous Ewing sarcoma|extraskeletal Ewing sarcoma|EOE|Extra-osseous Ewing's sarcoma|extraskeletal Ewing's sarcoma	http://purl.obolibrary.org/obo/MONDO_0018270	UMLS:C0279980|DOID:4232|NCIT:C7135|Orphanet:370334|UMLS:CN204849	ordo_disease
MONDO:0018273	biolink:Disease	XYLT1-congenital disorder of glycosylation		UMLS:CN204859|Orphanet:370930	mondo.json	XYLT18-CDG|XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation|XYLT1-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0018273	UMLS:CN204859|Orphanet:370930	ordo_disease
MONDO:0018272	biolink:Disease	obsolete small cell carcinoma of the ovary	OBSOLETE. A small cell carcinoma that involves the ovary.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0018272		
HGNC:21732	biolink:NamedThing	ANTXR2			mondo.json		http://identifiers.org/hgnc/21732		
HGNC:21734	biolink:NamedThing	LHX4			mondo.json		http://identifiers.org/hgnc/21734		
NCBITaxon:9913	biolink:OrganismalEntity	Bos taurus	Cattle (colloquially cows) are the most common type of large domesticated ungulates. They are a prominent modern member of the subfamily *Bovinae*, are the most widespread species of the genus *Bos*, and are most commonly classified collectively as *Bos taurus*... with three subspecies: *Bos taurus primigenius, Bos taurus indicus, Bos taurus taurus*.	GC_ID:1	mondo.json	Bos bovis|Bos primigenius taurus|dairy cow|cow|Bos taurus Linnaeus, 1758|domestic cow|ox|domestic cattle|cattle|bovine|oxen	http://purl.obolibrary.org/obo/NCBITaxon_9913		
HP:0030669	biolink:PhenotypicFeature	Abnormal ocular adnexa morphology	A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.	UMLS:C4073120	mondo.json		http://purl.obolibrary.org/obo/HP_0030669		
MONDO:0018279	biolink:Disease	congenital muscular dystrophy without intellectual disability		Orphanet:370980|OMIM:606612	mondo.json	CMD without intellectual disability|congenital muscular dystrophy-dystroglycanopathy without intellectual disability|CMD-no MR	http://purl.obolibrary.org/obo/MONDO_0018279	Orphanet:370980	ordo_disease
MONDO:0033853	biolink:Disease	congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome		Orphanet:521432	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033853	Orphanet:521432	ordo_disease
MONDO:0018278	biolink:Disease	congenital muscular dystrophy with intellectual disability		OMIM:606612|OMIM:613156|OMIM:613155|OMIM:608840|OMIM:615351|Orphanet:370968	mondo.json	CMD with intellectual disability|CMD-MR	http://purl.obolibrary.org/obo/MONDO_0018278	Orphanet:370968	ordo_disease
MONDO:0033850	biolink:Disease	autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect		Orphanet:521411	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033850	Orphanet:521411	ordo_disease
MONDO:0018275	biolink:Disease	obsolete salt and pepper syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018275		
MONDO:0018274	biolink:Disease	GM3 synthase deficiency	GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications.	UMLS:C1836824|Orphanet:171714|Orphanet:370938|GARD:0012059|OMIM:609056|UMLS:CN204860|Orphanet:370933|DOID:0060470|SCTID:722762005	mondo.json	infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome|infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness|salt-and-pepper syndrome|disorder of lactosylceramide alpha-2,3-sialyltransferase activity|salt and pepper developmental regression syndrome|ST3GAL5-CDG|GM3 synthase deficiency|lactosylceramide alpha-2,3-sialyltransferase activity disease|Amish infantile epilepsy syndrome|salt & pepper syndrome|salt and pepper mental retardation syndrome|SPDRS|epilepsy syndrome, infantile-onset symptomatic	http://purl.obolibrary.org/obo/MONDO_0018274	UMLS:CN204860|Orphanet:370933|http://identifiers.org/snomedct/722762005|DOID:0060470|https://omim.org/entry/609056|UMLS:C1836824	ordo_group_of_disorders|disease_grouping
MONDO:0018277	biolink:Disease	congenital muscular dystrophy with cerebellar involvement		OMIM:613156|OMIM:613155|OMIM:615351|Orphanet:370959|OMIM:606612	mondo.json	CMD with cerebellar involvement|CMD-CRB	http://purl.obolibrary.org/obo/MONDO_0018277	Orphanet:370959	ordo_disease
MONDO:0018276	biolink:Disease	muscular dystrophy-dystroglycanopathy		DOID:0050588|Orphanet:370953|GARD:0012584|UMLS:CN229783	mondo.json	congenital muscular dystrophy due to dystroglycanopathy|muscular dystrophy-dystroglycanopathy|CMD due to dystroglycanopathy	http://purl.obolibrary.org/obo/MONDO_0018276	UMLS:CN229783|Orphanet:370953|DOID:0050588	disease_grouping|ordo_group_of_disorders
MONDO:0018260	biolink:Disease	scalp syndrome		Orphanet:370052	mondo.json	sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome|sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome	http://purl.obolibrary.org/obo/MONDO_0018260	Orphanet:370052	ordo_disease
MONDO:0018262	biolink:Disease	fetal anticonvulsant syndrome		Orphanet:370068|UMLS:C1739111	mondo.json	FACS|fetal antiepileptic drug syndrome|fetal AEDS	http://purl.obolibrary.org/obo/MONDO_0018262	UMLS:C1739111|Orphanet:370068	disease_grouping|ordo_group_of_disorders
MONDO:0018261	biolink:Disease	Nevada syndrome	NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.	UMLS:CN204836|Orphanet:370059	mondo.json	Nevus epidermicus verrucosus with angiodysplasia and aneurysms	http://purl.obolibrary.org/obo/MONDO_0018261	UMLS:CN204836|Orphanet:370059	ordo_disease
MONDO:0033856	biolink:Disease	LAMA5-related multisystemic syndrome	A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder.	Orphanet:521450	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033856	Orphanet:521450	ordo_disease|n_of_one
HGNC:21701	biolink:NamedThing	BRAT1			mondo.json		http://identifiers.org/hgnc/21701		
MONDO:0006279	biolink:Disease	lung sarcomatoid carcinoma	A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor.	ONCOTREE:SARCL|EFO:1000336|ICD9:162.9|NCIT:C45540|SCTID:707460002	mondo.json	sarcomatoid carcinoma of the lung|lung sarcomatoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0006279	http://identifiers.org/snomedct/707460002|NCIT:C45540	
MONDO:0006277	biolink:Disease	lung lymphangioleiomyomatosis	Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course.	Orphanet:538|DOID:3319|MESH:D018192|GARD:0003319|ICD9:518.89|NCIT:C38153|EFO:1000334|ONCOTREE:LAM|MedDRA:10049459|SCTID:277844007	mondo.json	lung lymphangioleiomyomatosis|pulmonary lymphangiomyomatosis|lymphangioleiomyomatosis|lung lymphangiomyomatosis|pulmonary lymphangioleiomyomatosis	http://purl.obolibrary.org/obo/MONDO_0006277	NCIT:C38153|Orphanet:538|http://identifiers.org/snomedct/277844007|DOID:3319|http://identifiers.org/mesh/D018192	
MONDO:0006278	biolink:Disease	lung papilloma	A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction.	NCIT:C8295|UMLS:C0281373|EFO:1000335	mondo.json	respiratory tract papilloma|lung papilloma|papilloma of the respiratory tract|papilloma of respiratory tract	http://purl.obolibrary.org/obo/MONDO_0006278	NCIT:C8295|UMLS:C0281373	
HP:0030674	biolink:PhenotypicFeature	Antenatal onset	Onset prior to birth.	UMLS:C2673646	mondo.json	Prenatal onset|Intrauterine onset|Onset in utero	http://purl.obolibrary.org/obo/HP_0030674		
MONDO:0006275	biolink:Disease	lung giant cell carcinoma	A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion.	MESH:D018286|DOID:5583|UMLS:C0206703|ICD9:162.9|SCTID:254631008|UMLS:C0345960|EFO:1000332|NCIT:C4452|ONCOTREE:GCLC	mondo.json	giant cell lung carcinoma|giant cell carcinoma|lung giant cell carcinoma|giant cell carcinoma of lung|giant cell carcinoma of the lung|GCLC	http://purl.obolibrary.org/obo/MONDO_0006275	NCIT:C4452|http://identifiers.org/snomedct/254631008|UMLS:C0345960|DOID:5583|UMLS:C0206703|http://identifiers.org/mesh/D018286	
MONDO:0006276	biolink:Disease	lung inflammatory myofibroblastic tumor	An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.	ICDO:8827/1|UMLS:C1518038|ONCOTREE:IMTL|EFO:1000333|NCIT:C39740	mondo.json	lung inflammatory myofibroblastic tumor|inflammatory myofibroblastic lung tumor	http://purl.obolibrary.org/obo/MONDO_0006276	NCIT:C39740|UMLS:C1518038	
MONDO:0006273	biolink:Disease	low grade fibromyxoid sarcoma with giant collagen rosettes	A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes.	EFO:1000329|UMLS:C1708749|NCIT:C45203	mondo.json	hyalinizing spindle cell tumor with giant Rosettes	http://purl.obolibrary.org/obo/MONDO_0006273	UMLS:C1708749|NCIT:C45203	
CHR:9606-chr11q24.1	biolink:NamedThing	11q24.1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr11q24.1		
MONDO:0006274	biolink:Disease	low grade vulvar intraepithelial neoplasia	An intraepithelial lesion of the vulvar squamous epithelium that represents the clinical and morphological manifestation of a productive HPV infection. Low grade refers to the associated low risk of concurrent or future cancer. (WHO, 2014)	NCIT:C4760|UMLS:C0495106|EFO:1000330	mondo.json	vulvar flat condyloma|VIN 1 of usual type|VIN 1|grade I VIN|grade 1 vulvar intraepithelial neoplasia|vulvar intraepithelial neoplasia grade 1|vulva intraepithelial neoplasia grade 1|low grade VIN|vulvar mild squamous dysplasia|vulvar intraepithelial neoplasia 1 of usual type|vulvar Low-grade squamous intraepithelial lesion|VIN grade 1|grade 1 VIN|grade I vulvar intraepithelial neoplasia|intraepithelial neoplasia of the vulva grade 1|intraepithelial neoplasia of vulva grade 1|vulvar Low grade squamous intraepithelial lesion	http://purl.obolibrary.org/obo/MONDO_0006274	NCIT:C4760|UMLS:C0495106	
MONDO:0006271	biolink:Disease	low grade central osteosarcoma	A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma.	EFO:1000327|ONCOTREE:LGCOS|UMLS:C3814534|ICDO:9187/3|NCIT:C6474|UMLS:C1266163	mondo.json	low grade central osteosarcoma|intraosseous well-differentiated osteogenic sarcoma|low-grade intramedullary osteosarcoma|low grade intramedullary osteosarcoma|intraosseous well-differentiated osteosarcoma|low-grade central osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0006271	UMLS:C1266163|UMLS:C3814534|NCIT:C6474	
MONDO:0006272	biolink:Disease	low grade fibromyxoid sarcoma	A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein.	EFO:1000328|UMLS:C1275282|NCIT:C45202|ICD9:171.9|SCTID:404088004|ONCOTREE:LGFMS	mondo.json	low grade fibromyxoid sarcoma|low-grade fibromyxoid sarcoma	http://purl.obolibrary.org/obo/MONDO_0006272	http://identifiers.org/snomedct/404088004|NCIT:C45202|UMLS:C1275282	
MONDO:0006270	biolink:Disease	lobular breast carcinoma in situ	A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma.	EFO:1000326|SCTID:109888004|UMLS:C0279563|NCIT:C4018|ONCOTREE:LCIS|UMLS:C0334381|ICDO:8520/2	mondo.json	non-invasive lobular carcinoma of breast|non-invasive lobular carcinoma of the breast|LCIS|non-invasive lobular breast carcinoma|lobular Ca in situ of breast|lobular Ca in situ of the breast|lobular carcinoma in situ of breast|lobular carcinoma in situ of the breast|breast lobular carcinoma in situ|non-infiltrating lobular carcinoma of breast|non-infiltrating lobular carcinoma of the breast|lobular carcinoma in situ (LCIS)|lobular carcinoma in situ|non-infiltrating lobular breast carcinoma|lobular breast carcinoma in situ|lobular carcinoma in situ of the breast (LCIS)|non-infiltrating lobular carcinoma	http://purl.obolibrary.org/obo/MONDO_0006270	UMLS:C0334381|UMLS:C0279563|http://identifiers.org/snomedct/109888004|NCIT:C4018	
MONDO:0018268	biolink:Disease	Medich giant platelet syndrome	Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding.	Orphanet:370127|UMLS:CN204847|UMLS:C4305375|SCTID:718554005	mondo.json	Medich macrothrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0018268	Orphanet:370127|http://identifiers.org/snomedct/718554005|UMLS:CN204847|UMLS:C4305375	ordo_disease
MONDO:0033864	biolink:Disease	infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome		Orphanet:522077|OMIM:618218	mondo.json	Baker-Gordon syndrome	http://purl.obolibrary.org/obo/MONDO_0033864	Orphanet:522077|https://omim.org/entry/618218	ordo_disease
MONDO:0018267	biolink:Disease	combined cervical dystonia		Orphanet:370114	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018267	Orphanet:370114	ordo_disease
MONDO:0031200	biolink:Disease	Bryant-Li-Bhoj neurodevelopmental syndrome		OMIMPS:619720	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031200	https://omim.org/phenotypicSeries/PS619720	
MONDO:0033862	biolink:Disease	primary autoimmune enteropathy		Orphanet:522037	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033862	Orphanet:522037	ordo_disease
MONDO:0018269	biolink:Disease	white platelet syndrome	White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.	UMLS:C2931293|MESH:C536702|Orphanet:370131|GARD:0009282|SCTID:718553004	mondo.json	platelet granule deficiency disorder	http://purl.obolibrary.org/obo/MONDO_0018269	UMLS:C2931293|Orphanet:370131|http://identifiers.org/snomedct/718553004|http://identifiers.org/mesh/C536702	ordo_disease|gard_rare
MONDO:0018264	biolink:Disease	oculocutaneous albinism type 6	A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.	Orphanet:370097|SCTID:722058005|DOID:0080614|UMLS:C3805375|OMIM:113750	mondo.json	skin/hair/eye pigmentation 4, fair/dark skin|OCA6|albinism, oculocutaneous, type VI	http://purl.obolibrary.org/obo/MONDO_0018264	https://omim.org/entry/113750|UMLS:C3805375|DOID:0080614|http://identifiers.org/snomedct/722058005|Orphanet:370097	ordo_disease
MONDO:0018263	biolink:Disease	fetal carbamazepine syndrome	A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies.	UMLS:CN204839|ICD9:760.8|Orphanet:370076|UMLS:C0432370|SCTID:254249002	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018263	UMLS:CN204839|UMLS:C0432370|http://identifiers.org/snomedct/254249002|Orphanet:370076	ordo_disease
MONDO:0018266	biolink:Disease	ataxia - telangiectasia variant	Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.	UMLS:C1876175|Orphanet:370109	mondo.json	v-AT	http://purl.obolibrary.org/obo/MONDO_0018266	Orphanet:370109|UMLS:C1876175	ordo_disease
MONDO:0018265	biolink:Disease	obsolete rare disorder with dystonia and other neurologic or systemic manifestation		Orphanet:370106|UMLS:CN227296	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018265	Orphanet:370106|UMLS:CN227296	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
HP:0040006	biolink:PhenotypicFeature	Mortality/Aging		UMLS:C4022499	mondo.json		http://purl.obolibrary.org/obo/HP_0040006		
MONDO:0018251	biolink:Disease	obsolete glycogen storage disease due to phosphorylase kinase deficiency	OBSOLETE. A group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency.	SCTID:235908005|NCIT:C122662|Orphanet:370|MESH:C580130|UMLS:C0268147|SCTID:40191005|DOID:0050594	mondo.json	GSDIX|gycogenosis due to PhK deficiency|glycogen storage disease type 9|GSD due to phosphorylase kinase deficiency|GSD type IX|GSD type 9|glycogenosis due to phosphorylase kinase deficiency|glycogen storage disease IX|glycogenosis type 9|glycogen storage disease type IX|glycogen storage disease due to PhK deficiency|glycogenosis type IX|GSD IX|phosphorylase kinase deficiency	http://purl.obolibrary.org/obo/MONDO_0018251	http://identifiers.org/snomedct/235908005|UMLS:C0268147|NCIT:C122662|Orphanet:370|DOID:0050594|http://identifiers.org/snomedct/40191005|http://identifiers.org/mesh/C580130	ordo_group_of_disorders
MONDO:0018250	biolink:Disease	diffuse palmoplantar keratoderma with painful fissures		UMLS:CN204824|OMIM:148700|Orphanet:369999	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018250	UMLS:CN204824|Orphanet:369999	ordo_disease
GO:0045985	biolink:NamedThing	positive regulation of pyrimidine nucleobase metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases.		mondo.json	up-regulation of pyrimidine base metabolic process|up regulation of pyrimidine base metabolic process|positive regulation of pyrimidine base metabolic process|activation of pyrimidine base metabolic process|stimulation of pyrimidine base metabolic process|upregulation of pyrimidine base metabolic process|positive regulation of pyrimidine base metabolism	http://purl.obolibrary.org/obo/GO_0045985		
HP:0030682	biolink:PhenotypicFeature	Left ventricular noncompaction	Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer.	UMLS:C1960469	mondo.json		http://purl.obolibrary.org/obo/HP_0030682		
GO:0045986	biolink:NamedThing	negative regulation of smooth muscle contraction	Any process that stops, prevents, or reduces the frequency, rate or extent of smooth muscle contraction.		mondo.json	down regulation of smooth muscle contraction|inhibition of smooth muscle contraction|downregulation of smooth muscle contraction|smooth muscle relaxation|down-regulation of smooth muscle contraction	http://purl.obolibrary.org/obo/GO_0045986		
GO:0045983	biolink:NamedThing	positive regulation of purine nucleobase metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving purine bases.		mondo.json	positive regulation of purine base metabolic process|activation of purine base metabolic process|positive regulation of purine base metabolism|stimulation of purine base metabolic process|upregulation of purine base metabolic process|up-regulation of purine base metabolic process|up regulation of purine base metabolic process	http://purl.obolibrary.org/obo/GO_0045983		
MONDO:0006288	biolink:Disease	malignant adrenal gland pheochromocytoma	A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity.	EFO:1000348|ICDO:8700/3|UMLS:C0334419|DOID:0080347|NCIT:C4220|SCTID:21851000119103	mondo.json	malignant pheochromocytoma|malignant adrenal gland Chromaffinoma|malignant adrenal gland chromaffin paraganglioma|malignant adrenal medullary pheochromocytoma|malignant adrenal pheochromocytoma|malignant adrenal gland paraganglioma|malignant adrenal gland pheochromocytoma|malignant adrenal gland chromaffin tumor|malignant adrenal medullary paraganglioma|adrenal gland pheochromocytoma, malignant|pheochromoblastoma|malignant adrenal gland chromaffin neoplasm|pheochromocytoma, malignant	http://purl.obolibrary.org/obo/MONDO_0006288	http://identifiers.org/snomedct/21851000119103|NCIT:C4220|UMLS:C0334419|DOID:0080347	
GO:0045984	biolink:NamedThing	negative regulation of pyrimidine nucleobase metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases.		mondo.json	inhibition of pyrimidine base metabolic process|downregulation of pyrimidine base metabolic process|negative regulation of pyrimidine base metabolism|down-regulation of pyrimidine base metabolic process|negative regulation of pyrimidine base metabolic process|down regulation of pyrimidine base metabolic process	http://purl.obolibrary.org/obo/GO_0045984		
MONDO:0006289	biolink:Disease	obsolete malignant epitheloid mesothelioma		EFO:1000351	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006289		
MONDO:0006286	biolink:Disease	major salivary gland mucoepidermoid carcinoma	A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome.	EFO:1000346|NCIT:C5906|UMLS:C1334551	mondo.json	major salivary gland mucoepidermoid carcinoma|major salivary gland mucoepidermoid cancer|mucoepidermoid carcinoma of Major salivary gland|mucoepidermoid carcinoma of the Major salivary gland	http://purl.obolibrary.org/obo/MONDO_0006286	NCIT:C5906|UMLS:C1334551	
GO:0045981	biolink:NamedThing	positive regulation of nucleotide metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleotides.		mondo.json	upregulation of nucleotide metabolic process|positive regulation of nucleotide metabolism|up regulation of nucleotide metabolic process|stimulation of nucleotide metabolic process|up-regulation of nucleotide metabolic process|activation of nucleotide metabolic process	http://purl.obolibrary.org/obo/GO_0045981		
MONDO:0006287	biolink:Disease	malignancy in giant cell tumor of bone	A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor).	DOID:4719|NCIT:C4304|EFO:1000347|ICDO:9250/3|UMLS:C0334552	mondo.json	giant cell tumor of bone, malignant (morphologic abnormality)|malignancy in giant cell tumor of bone|giant cell tumor of bone, malignant|giant cell sarcoma of bone|malignancy in giant cell tumor of the bone|bone giant cell sarcoma|giant cell bone sarcoma|malignant giant cell tumor of bone|Dedifferentiated giant cell tumor|OSTEOCLASTOMA, malignant|giant cell sarcoma of the bone	http://purl.obolibrary.org/obo/MONDO_0006287	NCIT:C4304|UMLS:C0334552|DOID:4719	
GO:0045982	biolink:NamedThing	negative regulation of purine nucleobase metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving purine nucleobases.		mondo.json	down-regulation of purine base metabolic process|negative regulation of purine base metabolic process|down regulation of purine base metabolic process|inhibition of purine base metabolic process|downregulation of purine base metabolic process|negative regulation of purine base metabolism	http://purl.obolibrary.org/obo/GO_0045982		
MONDO:0006284	biolink:Disease	major salivary gland carcinoma	A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland.	UMLS:C1334549|EFO:1000344|NCIT:C5907	mondo.json	major salivary gland cancer|carcinoma of Major salivary gland|carcinoma of the major salivary gland|major salivary gland carcinoma|carcinoma of major salivary gland	http://purl.obolibrary.org/obo/MONDO_0006284	NCIT:C5907|UMLS:C1334549	
HP:0030680	biolink:PhenotypicFeature	Abnormality of cardiovascular system morphology	Any structural anomaly of the heart and great vessels.	UMLS:C4049796	mondo.json	Cardiovascular malformations	http://purl.obolibrary.org/obo/HP_0030680		
MONDO:0006285	biolink:Disease	major salivary gland carcinoma ex pleomorphic adenoma	A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.	NCIT:C5975|UMLS:C1334550|EFO:1000345	mondo.json	major salivary gland salivary gland carcinoma ex pleomorphic adenoma|major salivary gland carcinoma ex pleomorphic adenoma|carcinoma ex pleomorphic adenoma of Major salivary gland|carcinoma ex pleomorphic adenoma of the Major salivary gland	http://purl.obolibrary.org/obo/MONDO_0006285	NCIT:C5975|UMLS:C1334550	
GO:0045980	biolink:NamedThing	negative regulation of nucleotide metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nucleotides.		mondo.json	down regulation of nucleotide metabolic process|inhibition of nucleotide metabolic process|down-regulation of nucleotide metabolic process|negative regulation of nucleotide metabolism|downregulation of nucleotide metabolic process	http://purl.obolibrary.org/obo/GO_0045980		
HP:0030681	biolink:PhenotypicFeature	Abnormal morphology of myocardial trabeculae	Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae).	UMLS:C4073289	mondo.json		http://purl.obolibrary.org/obo/HP_0030681		
MONDO:0006282	biolink:Disease	lymphangiosarcoma	A malignant neoplasm arising from the endothelial cells of the lymphatic vessels.	UMLS:C0024224|DOID:2689|NCIT:C3205|ICD9:171.9|ICDO:9170/3|SCTID:403986008|EFO:1000339|MESH:D008204	mondo.json	lymphangioendothelial sarcoma|lymphangiosarcoma, malignant|lymphangiosarcoma|Stewart-Treves syndrome|lymphangiosarcoma of Stewart and Treves|malignant lymphangioendothelioma	http://purl.obolibrary.org/obo/MONDO_0006282	NCIT:C3205|http://identifiers.org/mesh/D008204|UMLS:C0024224|http://identifiers.org/snomedct/403986008|DOID:2689	
MONDO:0006283	biolink:Disease	lymphoepithelioma-like lung carcinoma	A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration.	NCIT:C45519|UMLS:C1708792|EFO:1000340|ONCOTREE:LECLC	mondo.json	lymphoepithelioma-like carcinoma of the lung	http://purl.obolibrary.org/obo/MONDO_0006283	UMLS:C1708792|NCIT:C45519	
MONDO:0006280	biolink:Disease	lung sclerosing hemangioma	A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic.	UMLS:C1509148|NCIT:C5656|MESH:D047868|ICD9:228.09|SCTID:707365008|DOID:5766|EFO:1000337|DOID:495	mondo.json	sclerosing hemangioma|sclerosing hemangioma of lung|sclerosing hemangioma of the lung|sclerosing haemangioma|lung sclerosing angioma|Pneumocytoma|sclerosing angioma of lung|pulmonary sclerosing hemangioma|sclerosing angioma of the lung|lung sclerosing hemangioma|sclerosing Pneumocytoma	http://purl.obolibrary.org/obo/MONDO_0006280	UMLS:C1509148|DOID:5766|DOID:495|http://identifiers.org/mesh/D047868|NCIT:C5656|http://identifiers.org/snomedct/707365008	
GO:0070925	biolink:NamedThing	organelle assembly	The aggregation, arrangement and bonding together of a set of components to form an organelle. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane.		mondo.json		http://purl.obolibrary.org/obo/GO_0070925		
MONDO:0006281	biolink:Disease	lung signet ring cell carcinoma	A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells.	DOID:0080305|NCIT:C45514|ICD9:162.9|SCTID:707407001|EFO:1000338	mondo.json	signet ring lung adenocarcinoma|lung signet ring cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006281	DOID:0080305|http://identifiers.org/snomedct/707407001|NCIT:C45514	
GO:0045989	biolink:NamedThing	positive regulation of striated muscle contraction	Any process that activates or increases the frequency, rate or extent of striated muscle contraction.		mondo.json	up-regulation of striated muscle contraction|up regulation of striated muscle contraction|activation of striated muscle contraction|stimulation of striated muscle contraction|upregulation of striated muscle contraction	http://purl.obolibrary.org/obo/GO_0045989		
GO:0045987	biolink:NamedThing	positive regulation of smooth muscle contraction	Any process that activates or increases the frequency, rate or extent of smooth muscle contraction.		mondo.json	up-regulation of smooth muscle contraction|up regulation of smooth muscle contraction|activation of smooth muscle contraction|stimulation of smooth muscle contraction|upregulation of smooth muscle contraction	http://purl.obolibrary.org/obo/GO_0045987		
GO:0045988	biolink:NamedThing	negative regulation of striated muscle contraction	Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle contraction.		mondo.json	inhibition of striated muscle contraction|downregulation of striated muscle contraction|down-regulation of striated muscle contraction|down regulation of striated muscle contraction	http://purl.obolibrary.org/obo/GO_0045988		
MONDO:0018257	biolink:Disease	familial syringomyelia	An instance of syringomyelia that is caused by an inherited modification of the individual's genome.	Orphanet:370034|UMLS:CN204832	mondo.json	hereditary syringomyelia	http://purl.obolibrary.org/obo/MONDO_0018257	Orphanet:370034|UMLS:CN204832	ordo_clinical_subtype
MONDO:0031213	biolink:Disease	restrictive dermopathy		OMIMPS:275210	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031213	https://omim.org/phenotypicSeries/PS275210	
MONDO:0018256	biolink:Disease	acute myeloid leukemia with t(8;16)(p11;p13) translocation	A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed.	Orphanet:370026|UMLS:C4511003|SCTID:725390002|UMLS:CN204831	mondo.json	AML with t(8;16)(p11;p13) translocation	http://purl.obolibrary.org/obo/MONDO_0018256	UMLS:C4511003|Orphanet:370026|http://identifiers.org/snomedct/725390002|UMLS:CN204831	ordo_disease
MONDO:0018259	biolink:Disease	didymosis aplasticosebacea		Orphanet:370046|UMLS:CN204834	mondo.json	aplasia cutis congenita-nevus sebaceus syndrome	http://purl.obolibrary.org/obo/MONDO_0018259	Orphanet:370046|UMLS:CN204834	ordo_disease
MONDO:0018258	biolink:Disease	Angora hair nevus		Orphanet:370039|UMLS:CN204833	mondo.json	Schauder syndrome	http://purl.obolibrary.org/obo/MONDO_0018258	Orphanet:370039|UMLS:CN204833	ordo_disease
MONDO:0018253	biolink:Disease	intellectual disability-facial dysmorphism-hand anomalies syndrome		UMLS:CN204829|Orphanet:370010	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018253	Orphanet:370010|UMLS:CN204829	ordo_malformation_syndrome
MONDO:0018252	biolink:Disease	focal palmoplantar keratoderma with joint keratoses		UMLS:CN204827|Orphanet:370002|OMIM:148700	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018252	Orphanet:370002|UMLS:CN204827	ordo_disease
MONDO:0018255	biolink:Disease	spondylometaphyseal dysplasia, Czarny-Ratajczak type		Orphanet:370019	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018255	Orphanet:370019	ordo_disease
MONDO:0018254	biolink:Disease	spondyloepimetaphyseal dysplasia, Isidor type		Orphanet:370015	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018254	Orphanet:370015	ordo_disease
HGNC:21708	biolink:NamedThing	CCM2			mondo.json		http://identifiers.org/hgnc/21708		
MONDO:0008959	biolink:Disease	CHAND syndrome		UMLS:C0406733|OMIM:214350|UMLS:CN199447|SCTID:239037001|Orphanet:1401|MESH:C538074	mondo.json	CHANDS|curly hair-ankyloblepharon-nail dysplasia syndrome|CHAND syndrome	http://purl.obolibrary.org/obo/MONDO_0008959	UMLS:CN199447|http://identifiers.org/snomedct/239037001|http://identifiers.org/mesh/C538074|https://omim.org/entry/214350|UMLS:C0406733|Orphanet:1401	
MONDO:0008958	biolink:Disease	Klippel-Feil syndrome 2, autosomal recessive	Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene.	DOID:0080590|UMLS:C1859209|MESH:C536888|OMIM:214300	mondo.json	Kfs, autosomal recessive|cervical vertebral fusion, autosomal recessive|MEOX1 isolated Klippel-Feil syndrome|isolated Klippel-Feil syndrome caused by mutation in MEOX1|KFS2|Klippel-FEIL syndrome 2, autosomal recessive|Klippel-Feil syndrome 2, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0008958	http://identifiers.org/mesh/C536888|UMLS:C1859209|https://omim.org/entry/214300|DOID:0080590	
MONDO:0008957	biolink:Disease	cervical vertebrae, agenesis of		OMIM:214290|MESH:C562952	mondo.json	cervical vertebrae, agenesis of	http://purl.obolibrary.org/obo/MONDO_0008957	http://identifiers.org/mesh/C562952|https://omim.org/entry/214290	
HGNC:1339	biolink:NamedThing	C6			mondo.json		http://identifiers.org/hgnc/1339		
CHEBI:22744	biolink:ChemicalSubstance	benzyl group			mondo.json	benzyl|phenylalanine side-chain|phenylmethyl|C6H5-CH2-|Bn	http://purl.obolibrary.org/obo/CHEBI_22744		
MONDO:0008956	biolink:Disease	obsolete congenital neuronal ceroid lipofuscinosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008956		
MONDO:0008955	biolink:Disease	cerebrooculofacioskeletal syndrome 1	Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene.	OMIM:214150	mondo.json	COFS syndrome caused by mutation in ERCC6|Pena-Shokeir syndrome, type 2|cerebrooculofacioskeletal syndrome 1|COFS syndrome|ERCC6 COFS syndrome|COFS1|cerebrooculofacioskeletal syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0008955	https://omim.org/entry/214150	
MONDO:0008954	biolink:Disease	peroxisome biogenesis disorder 2A (Zellweger)		DOID:0080477|UMLS:C3550273|OMIM:214110	mondo.json	peroxisome biogenesis disorder 2A (Zellweger)|PBD2A|peroxisome biogenesis disorder, complementation group 2	http://purl.obolibrary.org/obo/MONDO_0008954	UMLS:C3550273|https://omim.org/entry/214110|DOID:0080477	
HGNC:3999	biolink:NamedThing	FTL			mondo.json		http://identifiers.org/hgnc/3999		
MONDO:0008953	biolink:Disease	peroxisome biogenesis disorder 1A (Zellweger)		DOID:0080476|OMIM:214100	mondo.json	PBD1A|Cerebrohepatorenal syndrome|peroxisome biogenesis disorder 1A (Zellweger)|Zs|peroxisome biogenesis disorder, complementation group E|peroxisome biogenesis disorder, complementation group 1	http://purl.obolibrary.org/obo/MONDO_0008953	https://omim.org/entry/214100|DOID:0080476	
MONDO:0008952	biolink:Disease	cerebrofaciothoracic dysplasia	Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.	Orphanet:1394|MESH:C565862|OMIM:213980|SCTID:720635002|GARD:0001210	mondo.json	cerebro facio thoracic dysplasia|craniofacial dysmorphism, skeletal anomalies, and intellectual disability syndrome|pascual-Castroviejo syndrome type 1|cerebrofaciothoracic dysplasia|pascual-Castroviejo syndrome|CFSMR|craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	http://purl.obolibrary.org/obo/MONDO_0008952	http://identifiers.org/snomedct/720635002|Orphanet:1394|https://omim.org/entry/213980|http://identifiers.org/mesh/C565862	gard_rare|ordo_malformation_syndrome
MONDO:0008951	biolink:Disease	cerebrocortical degeneration of infancy		OMIM:213950|MESH:C565863|UMLS:C1859257	mondo.json	cerebrocortical degeneration of infancy	http://purl.obolibrary.org/obo/MONDO_0008951	UMLS:C1859257|https://omim.org/entry/213950|http://identifiers.org/mesh/C565863	
MONDO:0008950	biolink:Disease	cerebral sclerosis similar to Pelizaeus-Merzbacher disease		OMIM:213900|MESH:C536318|GARD:0007348	mondo.json	cerebral sclerosis similar to Pelizaeus-Merzbacher disease	http://purl.obolibrary.org/obo/MONDO_0008950	http://identifiers.org/mesh/C536318|https://omim.org/entry/213900	gard_rare
MONDO:0021929	biolink:Disease	traumatic myositis ossificans	Myositis Ossificans resulting from trauma.	NCIT:C35081|ICD9:728.12|SCTID:70917000|UMLS:C0040798	mondo.json	Myositis ossificans traumatica|myositis ossificans traumatica|traumatic myositis ossificans|Traumatic Myositis Ossificans|Traumatic myositis ossificans|myositis ossificans circumscripta|Myositis ossificans circumscripta	http://purl.obolibrary.org/obo/MONDO_0021929	NCIT:C35081|http://identifiers.org/snomedct/70917000|UMLS:C0040798	
UBERON:0005594	biolink:AnatomicalEntity	head somite			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005594		
HGNC:1346	biolink:NamedThing	C7			mondo.json		http://identifiers.org/hgnc/1346		
NCBITaxon:2212966	biolink:OrganismalEntity	Echinococcus granulosus group		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2212966		
MONDO:0021921	biolink:Disease	Arnold stickler bourne syndrome		GARD:0000366|UMLS:C2931492|MESH:C537431	mondo.json	corneal crystals myopathy and neuropathy|corneal crystals myopathy and nephropathy	http://purl.obolibrary.org/obo/MONDO_0021921	http://identifiers.org/mesh/C537431|UMLS:C2931492	gard_rare
MONDO:0021923	biolink:Disease	Arroyo Garcia Cimadevilla syndrome	A syndrome characterized by bilateral anophthalmia (absence of one or both eyes), esophageal atresia (the upper esophagus ends and does not connect with the lower esophagus and stomach), and cryptorchidism (a condition in which one or both of the testes fail to descend from the abdomen into the scrotum). This is an n-of-1 use case where only one patient or family has been described with this disorder.	MESH:C537439|UMLS:C2931494|GARD:0000771	mondo.json	bilateral anophthalmia, esophageal atresia, and right cryptorchidism	http://purl.obolibrary.org/obo/MONDO_0021923	http://identifiers.org/mesh/C537439|UMLS:C2931494	gard_rare|n_of_one
MONDO:0021925	biolink:Disease	tracheobronchitis	Inflammation of the tracheobronchial tree.	NCIT:C122784|SCTID:13617004|UMLS:C0040586	mondo.json	tracheobronchitis|Tracheobronchitis	http://purl.obolibrary.org/obo/MONDO_0021925	NCIT:C122784|UMLS:C0040586|http://identifiers.org/snomedct/13617004	
HGNC:1343	biolink:NamedThing	TRAF3IP2			mondo.json		http://identifiers.org/hgnc/1343		
UBERON:0005599	biolink:AnatomicalEntity	common dorsal aorta			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005599		
UBERON:0005598	biolink:AnatomicalEntity	trunk somite			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005598		
MONDO:0021927	biolink:Disease	arthrogryposis epileptic seizures migrational brain disorder		MESH:C537442|UMLS:C2931495|GARD:0000781	mondo.json	arthrogryposis multiplex congenita with epileptic seizures and migrational brain disorder	http://purl.obolibrary.org/obo/MONDO_0021927	UMLS:C2931495|http://identifiers.org/mesh/C537442	gard_rare
UBERON:0005597	biolink:AnatomicalEntity	lung primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005597		
MONDO:0006309	biolink:Disease	mucinous gastric adenocarcinoma	A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools.	ONCOTREE:MSTAD|DOID:3716|NCIT:C5248|UMLS:C1334809|EFO:1000386	mondo.json	mucinous adenocarcinoma of the stomach|stomach mucinous adenocarcinoma|mucinous stomach adenocarcinoma|mucinous adenocarcinoma of stomach|mucinous gastric adenocarcinoma|MSTAD	http://purl.obolibrary.org/obo/MONDO_0006309	DOID:3716|NCIT:C5248|UMLS:C1334809	
MONDO:0033927	biolink:Disease	obsolete genetic complex vascular malformation with associated anomalies		Orphanet:459537	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033927	Orphanet:459537	
MONDO:0006307	biolink:Disease	mixed somatotroph-lactotroph pituitary gland adenoma	An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry.	EFO:1000383|UMLS:C1709052|NCIT:C45927	mondo.json	mixed somatotroph-lactotroph adenoma|Mixed somatotroph and lactotroph adenoma|mixed GH-PRL cell adenoma|mixed Somatolactotrope adenoma|mixed somatotroph-lactotroph pituitary gland adenoma	http://purl.obolibrary.org/obo/MONDO_0006307	NCIT:C45927|UMLS:C1709052	
MONDO:0033926	biolink:Disease	prepubertal anorexia nervosa		Orphanet:525738	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033926	Orphanet:525738	ordo_disease
MONDO:0008969	biolink:Disease	cholesterol pneumonia		GARD:0008500|OMIM:215030|SCTID:233728004|UMLS:C0549472|MESH:C535937|ICD9:516.8	mondo.json	familiaere cholesterin-Pneumonie|cholesterol pneumonia	http://purl.obolibrary.org/obo/MONDO_0008969	http://identifiers.org/mesh/C535937|https://omim.org/entry/215030|UMLS:C0549472|http://identifiers.org/snomedct/233728004	gard_rare
MONDO:0006308	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0006308		
MONDO:0033925	biolink:Disease	pediatric-onset Graves disease		Orphanet:525731	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033925	Orphanet:525731	ordo_disease
MONDO:0008968	biolink:Disease	cholestasis with gallstone, ataxia, and visual disturbance		MESH:C565856|OMIM:214980|UMLS:C1859161	mondo.json	cholestasis with gallstone, ataxia, and visual disturbance	http://purl.obolibrary.org/obo/MONDO_0008968	UMLS:C1859161|https://omim.org/entry/214980|http://identifiers.org/mesh/C565856	
MONDO:0006305	biolink:Disease	obsolete mixed cell uveal melanoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006305		
MONDO:0006306	biolink:Disease	mixed lobular and ductal breast carcinoma	A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor.	EFO:1000382|SCTID:444604002|ONCOTREE:MDLC|NCIT:C5160|ICD9:174.8|UMLS:C0334384	mondo.json	mixed lobular and ductal carcinoma of breast|mixed lobular and ductal carcinoma of the breast|mixed lobular and ductal breast carcinoma|mixed ductal and lobular carcinoma of breast|mixed ductal and lobular carcinoma of the breast|mixed lobular and ductal carcinoma|breast mixed ductal and lobular carcinoma|mixed ductal and lobular breast carcinoma|ductal and lobular carcinoma	http://purl.obolibrary.org/obo/MONDO_0006306	NCIT:C5160|UMLS:C0334384|http://identifiers.org/snomedct/444604002	
MONDO:0008967	biolink:Disease	congenital bile acid synthesis defect 4	An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.	OMIM:214950|DOID:0111068|MESH:C535444|Orphanet:79095|GARD:0010046	mondo.json	congenital bile acid synthesis defect 4|Trihydroxycoprostanic acid in bile|trihydroxycoprostanic acid in bile|Trihydroxycoprostanic acid to cholic acid|Alpha-methyl-acyl-CoA racemase deficiency|bile acid synthesis defect, congenital, 4|bile acid synthesis defect, congenital, type 4|BASD4|AMACR deficiency|2-methylacyl-CoA racemase deficiency|CBAS4|intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome|cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid|congenital bile acid synthesis defect type 4|cholestasis, intrahepatic, with defective conversion of|BAS defect type 4	http://purl.obolibrary.org/obo/MONDO_0008967	DOID:0111068|https://omim.org/entry/214950|Orphanet:79095|http://identifiers.org/mesh/C535444	ordo_disease|gard_rare
MONDO:0006303	biolink:Disease	middle ear squamous cell carcinoma	A rare squamous cell carcinoma that arises from the middle ear.	EFO:1000378|NCIT:C6086|DOID:5526|UMLS:C1334762	mondo.json	squamous cell carcinoma of the middle Ear|middle ear squamous cell carcinoma|middle Ear epidermoid carcinoma|epidermoid carcinoma of the middle ear|epidermoid carcinoma of middle Ear|epidermoid carcinoma of the middle Ear|squamous cell carcinoma of middle ear|squamous cell carcinoma of middle Ear	http://purl.obolibrary.org/obo/MONDO_0006303	UMLS:C1334762|DOID:5526|NCIT:C6086	
MONDO:0008966	biolink:Disease	Aagenaes syndrome	Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life.	NCIT:C35709|GARD:0000370|ICD9:576.8|DOID:6691|ICD10CM:Q82.0|MESH:C535330|SCTID:28724005|UMLS:C0268314|Orphanet:1414|OMIM:214900	mondo.json	cholestasis-edema syndrome, Norwegian type|LCS1|cholestasis-lymphedema syndrome|Aagenaes syndrome|LCS|lymphedema cholestasis syndrome|cholestasis lymphedema syndrome|lymphedema-cholestasis syndrome|Chls	http://purl.obolibrary.org/obo/MONDO_0008966	UMLS:C0268314|DOID:6691|https://omim.org/entry/214900|NCIT:C35709|Orphanet:1414|http://identifiers.org/snomedct/28724005|http://identifiers.org/mesh/C535330	gard_rare|ordo_disease
HGNC:1348	biolink:NamedThing	SAMD9			mondo.json		http://identifiers.org/hgnc/1348		
MONDO:0008965	biolink:Disease	CHARGE syndrome	CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).	OMIM:214800|Orphanet:138|ICD9:759.89|DOID:0050834|GARD:0000029|UMLS:C0265354|SCTID:47535005|MESH:D058747|NCIT:C75100|MedDRA:10064063	mondo.json	coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome|CHARGE association|Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies|CHARGE syndrome|coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association|coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies|Hall-Hittner syndrome|coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association	http://purl.obolibrary.org/obo/MONDO_0008965	http://identifiers.org/mesh/D058747|https://omim.org/entry/214800|http://identifiers.org/snomedct/47535005|NCIT:C75100|UMLS:C0265354|Orphanet:138|DOID:0050834	gard_rare|ordo_malformation_syndrome
MONDO:0006304	biolink:Disease	minor salivary gland adenocarcinoma	An adenocarcinoma that arises from the minor salivary glands.	UMLS:C1334768|EFO:1000379|NCIT:C5948	mondo.json	adenocarcinoma of minor salivary gland|adenocarcinoma of the minor salivary gland	http://purl.obolibrary.org/obo/MONDO_0006304	NCIT:C5948|UMLS:C1334768	
HGNC:1349	biolink:NamedThing	SAMD9L			mondo.json		http://identifiers.org/hgnc/1349		
MONDO:0008964	biolink:Disease	congenital secretory chloride diarrhea 1	Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene.	MESH:C536210|SCTID:24412005|OMIM:214700|GARD:0010001|ICD9:579.8|Orphanet:53689|DOID:0060296	mondo.json	secretory diarrhea caused by mutation in SLC26A3|DIAR1|chloride diarrhea, congenital, Finnish type|Chloridorrhea, congenital|Darrow-gamble disease|congenital chloride diarrhea Finnish type|congenital chloride diarrhea|CLD|familial chloride diarrhea|SLC26A3 secretory diarrhea|diarrhea 1, secretory chloride, congenital|congenital secretory chloride diarrhea type 1|congenital chloridorrhea	http://purl.obolibrary.org/obo/MONDO_0008964	http://identifiers.org/snomedct/24412005|Orphanet:53689|https://omim.org/entry/214700|http://identifiers.org/mesh/C536210|DOID:0060296	ordo_disease
MONDO:0006301	biolink:Disease	metanephric adenoma	A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients.	ICDO:8191/0|NCIT:C27253|ICDO:8325/0|DOID:6404|UMLS:C1266045|EFO:1000373	mondo.json	metanephric adenoma (morphologic abnormality)|metanephric adenoma	http://purl.obolibrary.org/obo/MONDO_0006301	UMLS:C1266045|DOID:6404|NCIT:C27253	
MONDO:0008963	biolink:Disease	Chediak-Higashi syndrome	ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.	ICD10CM:E70.3|GARD:0006035|MESH:D002609|DOID:2935|SCTID:111396008|NCIT:C2941|UMLS:C0007965|ICD10CM:E70.330|MedDRA:10008415|OMIM:214500|Orphanet:167	mondo.json	Chédiak-Higashi-Steinbrink syndrome|Chediak Higashi syndrome|ChC)diak-Higashi disease|Chédiak-Higashi syndrome|ChC)diak-Higashi-Steinbrink syndrome|CHS|Chédiak-Higashi disease|Chediak-Higashi syndrome|Chediak - Steinbrinck anomaly	http://purl.obolibrary.org/obo/MONDO_0008963	DOID:2935|http://identifiers.org/snomedct/111396008|http://identifiers.org/mesh/D002609|https://omim.org/entry/214500|NCIT:C2941|Orphanet:167|http://purl.bioontology.org/ontology/ICD10CM/E70.330|UMLS:C0007965	gard_rare|ordo_disease
MONDO:0006302	biolink:Disease	micropapillary serous carcinoma	An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio.	NCIT:C6882|EFO:1000377	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006302	NCIT:C6882	
MONDO:0008962	biolink:Disease	Griscelli syndrome type 1	A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2.	UMLS:C1859194|Orphanet:79476|ICD10CM:E70.3|OMIM:214450|DOID:0060832|MESH:C537301|GARD:0002566	mondo.json	Griscelli-PruniC)ras syndrome type 1|Griscelli syndrome, type 1|hypopigmentation-neurologic impairment syndrome|pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts|Griscelli-Pruniéras syndrome type 1|Griscelli syndrome, cutaneous and neurological type|Griscelli syndrome with neurological impairment|partial albinism and primary neurologic disease without hemophagocytic syndrome|Griscelli syndrome, cutaneous and neurologic type|GS1|Griscelli syndrome type 1|Griscelli disease type 1|Griscelli syndrome with neurologic impairment	http://purl.obolibrary.org/obo/MONDO_0008962	DOID:0060832|UMLS:C1859194|https://omim.org/entry/214450|http://identifiers.org/mesh/C537301|Orphanet:79476	gard_rare|ordo_clinical_subtype
MONDO:0008961	biolink:Disease	Charcot-Marie-Tooth disease type 4A	Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities.	OMIM:214400|MESH:C535419|DOID:0110185|SCTID:715796006|GARD:0001252|UMLS:C1859198|Orphanet:99948	mondo.json	autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive|Charcot-Marie-Tooth neuropathy, type 4A|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4A|Charcot-Marie-Tooth disease type 4 caused by mutation in GDAP1|Charcot Marie Tooth disease type 4A|GDAP1 Charcot-Marie-Tooth disease type 4|CMT4A|Charcot-Marie-Tooth neuropathy type 4A|Charcot-Marie-Tooth disease, type 4A	http://purl.obolibrary.org/obo/MONDO_0008961	UMLS:C1859198|https://omim.org/entry/214400|Orphanet:99948|http://identifiers.org/snomedct/715796006|DOID:0110185|http://identifiers.org/mesh/C535419	gard_rare|ordo_disease
MONDO:0006300	biolink:Disease	medullomyoblastoma with myogenic differentiation	A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma.	NCIT:C3706|EFO:1000368|UMLS:C0205833|DOID:3861|ICDO:9472/3|ONCOTREE:MMB	mondo.json	MMB|medullomyoblastoma|medullomyoblastoma with myogenic differentiation	http://purl.obolibrary.org/obo/MONDO_0006300	NCIT:C3706|DOID:3861|UMLS:C0205833	
MONDO:0008960	biolink:Disease	Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome	A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.	Orphanet:90103|SCTID:715666007|OMIM:214370	mondo.json	neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers|hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers|Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome|neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibers|Charcot-Marie-Tooth disease and deafness|deafness with Charcot-Marie-Tooth disease|Charcot-Marie-tooth disease-deafness-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0008960	http://identifiers.org/snomedct/715666007|https://omim.org/entry/214370|Orphanet:90103	ordo_malformation_syndrome
MONDO:0021918	biolink:Disease	arena syndrome		GARD:0009223|UMLS:C2931491|MESH:C537428	mondo.json	spastic paraplegia with iron deposits in basal ganglia	http://purl.obolibrary.org/obo/MONDO_0021918	UMLS:C2931491|http://identifiers.org/mesh/C537428	gard_rare
NCBITaxon:9963	biolink:OrganismalEntity	Caprinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_9963		
HP:0005656	biolink:PhenotypicFeature	Positional foot deformity	A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies.	UMLS:C4025161	mondo.json		http://purl.obolibrary.org/obo/HP_0005656		
OBO:ECTO_0001055	biolink:NamedThing	exposure to decreased air temperature	A exposure event involving the interaction of an exposure receptor to decreased amount of temperature of air.		mondo.json	exposure to decreased amount in temperature of air	http://purl.obolibrary.org/obo/ECTO_0001055		
MONDO:0021910	biolink:Disease	obsolete aplasia cutis myopia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021910		
HGNC:1358	biolink:NamedThing	C9			mondo.json		http://identifiers.org/hgnc/1358		
OBO:ECTO_0001057	biolink:NamedThing	exposure to decreased temperature	A exposure event involving the interaction of an exposure receptor to decreased temperature.		mondo.json	decreased temperature exposure	http://purl.obolibrary.org/obo/ECTO_0001057		
HGNC:1356	biolink:NamedThing	ERLIN2			mondo.json		http://identifiers.org/hgnc/1356		
MONDO:0021913	biolink:Disease	aquagenic pruritus	Aquagenic pruritus is a conditionin which contact with water of any temperature causes intense itching, without any visible skin changes. The symptoms may begin immediately after contact and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. It may be a symptom of polycythemia vera or another underlying condition. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying degrees of success.	ICD9:698.8|SCTID:238695001|GARD:0010278|UMLS:C0406409	mondo.json	water-induced itching|aquagenic pruritus	http://purl.obolibrary.org/obo/MONDO_0021913	http://identifiers.org/snomedct/238695001|UMLS:C0406409	gard_rare
HGNC:1353	biolink:NamedThing	C8B			mondo.json		http://identifiers.org/hgnc/1353		
MONDO:0021915	biolink:Disease	arakawa syndrome 2	A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly.	NCIT:C99081|UMLS:C0268611|MESH:C537426|SCTID:89579000	mondo.json	N5-methylhomocysteine transferase deficiency|tetrahydrofolate-methyltransferase deficiency syndrome|methionine synthase deficiency|methylcobalamin deficiency, cblG type|Arakawa's syndrome 2|tetrahydrofolate methyltransferase deficiency|Arakawa syndrome II|Arakawa's syndrome II|homocystinuria-megaloblastic Anemia, cblG complementation type	http://purl.obolibrary.org/obo/MONDO_0021915	UMLS:C0268611|http://identifiers.org/snomedct/89579000|http://identifiers.org/mesh/C537426|NCIT:C99081	
HGNC:1352	biolink:NamedThing	C8A			mondo.json		http://identifiers.org/hgnc/1352		
MONDO:0008939	biolink:Disease	isolated cerebellar hypoplasia/agenesis	Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.	NCIT:C98890|SCTID:16026008|Orphanet:1398|OMIM:213000|GARD:0001194|Orphanet:2246|MedDRA:10008033|MESH:C562568|DOID:0070338	mondo.json	isolated cerebellar agenesis|near total absence of cerebellum|Chiari 4 malformation|Chiari IV malformation|congenital cerebellar Hypoplasia|cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay|subtotal absence of cerebellum|cerebellar hypoplasia	http://purl.obolibrary.org/obo/MONDO_0008939	Orphanet:1398|NCIT:C98890|http://identifiers.org/mesh/C562568|http://identifiers.org/snomedct/16026008|DOID:0070338|https://omim.org/entry/213000	ordo_morphological_anomaly
MONDO:0033939	biolink:Disease	obsolete hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0033939		
MONDO:0008938	biolink:Disease	early-onset cerebellar ataxia with retained tendon reflexes	Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.	GARD:0002600|MESH:C535633|SCTID:230228004|UMLS:C0393520|ICD9:334.3|Orphanet:1177|OMIM:212895	mondo.json	cerebellar ataxia, early-onset, with retained tendon reflexes|ataxia, harding type|EOCA|cerebellar ataxia early onset with retained tendon reflex|Harding ataxia|EOCARR	http://purl.obolibrary.org/obo/MONDO_0008938	http://identifiers.org/snomedct/230228004|https://omim.org/entry/212895|http://identifiers.org/mesh/C535633|UMLS:C0393520|Orphanet:1177	ordo_disease
MONDO:0033938	biolink:Disease	acute radiation syndrome		Orphanet:454831	mondo.json	Acute radiation sickness	http://purl.obolibrary.org/obo/MONDO_0033938	Orphanet:454831	ordo_disorder
MONDO:0008937	biolink:Disease	cerebellar ataxia, benign, with thermoanalgesia		OMIM:212890|UMLS:C1859303|MESH:C565868	mondo.json	cerebellar ataxia, benign, with thermoanalgesia|cerebellar ataxia with loss of pain and temperature sensation	http://purl.obolibrary.org/obo/MONDO_0008937	https://omim.org/entry/212890|http://identifiers.org/mesh/C565868|UMLS:C1859303	
MONDO:0008936	biolink:Disease	cerebellar ataxia and neurosensory deafness		MESH:C565869|UMLS:C1859304|OMIM:212850	mondo.json	cerebellar ataxia and neurosensory deafness	http://purl.obolibrary.org/obo/MONDO_0008936	https://omim.org/entry/212850|http://identifiers.org/mesh/C565869|UMLS:C1859304	
MONDO:0008935	biolink:Disease	cerebellar ataxia-hypogonadism syndrome	Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome.	Orphanet:1173|GARD:0003314|MESH:C565870|DOID:0111587|UMLS:C1859305|OMIM:212840	mondo.json	luteinizing hormone releasing hormone, deficiency of with ataxia|cerebellar ataxia and hypogonadotropic hypogonadism|cerebellar ataxia - hypogonadism|Gordon-Holmes syndrome|LHRH deficiency and ataxia|luteinizing hormone-releasing hormone deficiency with ataxia|Gordon Holmes syndrome|GDHS|luteinizing hormone-releasing hormone, deficiency of, with ataxia	http://purl.obolibrary.org/obo/MONDO_0008935	DOID:0111587|https://omim.org/entry/212840|http://identifiers.org/mesh/C565870|UMLS:C1859305|Orphanet:1173	ordo_disease
MONDO:0008934	biolink:Disease	cerebellar ataxia-ectodermal dysplasia syndrome	Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.	GARD:0001189|Orphanet:1174|UMLS:C1859306|OMIM:212835|MESH:C535350|SCTID:715371006	mondo.json	ectodermal dysplasia and cerebellar ataxia|cerebellar ataxia - ectodermal dysplasia|cerebellar ataxia ectodermal dysplasia|cerebellar ataxia and ectodermal dysplasia	http://purl.obolibrary.org/obo/MONDO_0008934	https://omim.org/entry/212835|http://identifiers.org/mesh/C535350|http://identifiers.org/snomedct/715371006|UMLS:C1859306|Orphanet:1174	ordo_malformation_syndrome
MONDO:0008933	biolink:Disease	cephalin lipidosis		MESH:C565872|OMIM:212800|UMLS:C1859307	mondo.json	cephalin lipidosis	http://purl.obolibrary.org/obo/MONDO_0008933	https://omim.org/entry/212800|http://identifiers.org/mesh/C565872|UMLS:C1859307	
MONDO:0008932	biolink:Disease	premature centromere division		OMIM:212790|UMLS:C1859308	mondo.json	PCD|X-chromosome centromere peculiarity|premature centromere division	http://purl.obolibrary.org/obo/MONDO_0008932	https://omim.org/entry/212790|UMLS:C1859308	
MONDO:0008931	biolink:Disease	Cenani-Lenz syndactyly syndrome	Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.	Orphanet:3258|UMLS:C1859309|SCTID:720633009|OMIM:212780|GARD:0005084|DOID:0090015|MESH:C538150	mondo.json	syndactyly, type 7|Cenani syndactyly|Cenani-Lenz type syndactyly|Cenani-Lenz syndactyly syndrome|syndactyly Cenani Lenz type|Cenani-Lenz syndactyly|Cenani-Lenz syndrome|Cenani syndactylism|syndactyly type 7|CLSS	http://purl.obolibrary.org/obo/MONDO_0008931	DOID:0090015|https://omim.org/entry/212780|http://identifiers.org/snomedct/720633009|UMLS:C1859309|Orphanet:3258|http://identifiers.org/mesh/C538150	ordo_malformation_syndrome
MONDO:0008930	biolink:Disease	celiac disease, susceptibility to, 1		OMIM:212750	mondo.json	celiac sprue, susceptibility to, 1|celiac disease, susceptibility to, type 1|gluten-sensitive enteropathy, susceptibility to, 1|CELIAC1|susceptibility to celiac disease 1|celiac disease, susceptibility to, 1|celiac disease, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0008930	https://omim.org/entry/212750	predisposition
NCBITaxon:9922	biolink:OrganismalEntity	Capra		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_9922		
NCBITaxon:9925	biolink:OrganismalEntity	Capra hircus		GC_ID:1	mondo.json	domestic goat|goat|goats|Capra hircus Linnaeus, 1758|Capra aegagrus hircus	http://purl.obolibrary.org/obo/NCBITaxon_9925		
MONDO:0021907	biolink:Disease	aplasia cutis autosomal recessive	Aplasia cutis with autosomal recessive inheritance.	GARD:0000749	mondo.json		http://purl.obolibrary.org/obo/MONDO_0021907		gard_rare
MONDO:0021908	biolink:Disease	aplasia cutis congenita dominant	Aplasia cutis congenita with with autosomal dominant inheritance with reduced penetrance.	GARD:0000751	mondo.json		http://purl.obolibrary.org/obo/MONDO_0021908		gard_rare
MONDO:0021909	biolink:Disease	obsolete aplasia cutis congenita recessive			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021909		
HGNC:1366	biolink:NamedThing	ADAMTS13			mondo.json		http://identifiers.org/hgnc/1366		
CHEBI:22723	biolink:ChemicalSubstance	benzoic acids	Any aromatic carboxylic acid that consists of benzene in which at least a single hydrogen has been substituted by a carboxy group.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_22723		
MONDO:0021902	biolink:Disease	aortopulmonary window	A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery.	SCTID:17024001|MESH:D001028|GARD:0000745|HP:0011604|NCIT:C101050	mondo.json	aortopulmonary septal defect|APW|aortic-pulmonary window|AP window|aorto-pulmonary window|aortopulmonary window|APSD	http://purl.obolibrary.org/obo/MONDO_0021902	http://identifiers.org/mesh/D001028|http://identifiers.org/snomedct/17024001|NCIT:C101050	gard_rare
HGNC:1362	biolink:NamedThing	FRRS1L			mondo.json		http://identifiers.org/hgnc/1362		
MONDO:0021905	biolink:Disease	apert-like polydactyly syndrome		GARD:0000746	mondo.json	apert like polydactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0021905		gard_rare
MONDO:0008929	biolink:Disease	obsolete cataract-intellectual disability-hypogonadism syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008929		
MONDO:0008949	biolink:Disease	cerebral malformation, seizures, hypertrichosis, and overlapping fingers		OMIM:213820|MESH:C537370|GARD:0003812|UMLS:C1859259	mondo.json	cerebral malformation, seizures, hypertrichosis, and overlapping fingers|Muller Barth Menger syndrome	http://purl.obolibrary.org/obo/MONDO_0008949	https://omim.org/entry/213820|UMLS:C1859259|http://identifiers.org/mesh/C537370	
MONDO:0008948	biolink:Disease	cerebrotendinous xanthomatosis	Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.	Orphanet:909|GARD:0005622|MESH:D019294|OMIM:213700|NCIT:C84628|SCTID:63246000|UMLS:C0238052|DOID:4810	mondo.json	CTx|sterol 27-hydroxylase deficiency|cerebral cholesterinosis|cerebrotendinous xanthomatosis|cholestanol storage disease	http://purl.obolibrary.org/obo/MONDO_0008948	http://identifiers.org/snomedct/63246000|Orphanet:909|DOID:4810|http://identifiers.org/mesh/D019294|NCIT:C84628|UMLS:C0238052|https://omim.org/entry/213700	ordo_disease|gard_rare
MONDO:0033948	biolink:Disease	acquired angioedema with C1Inh deficiency		Orphanet:528663	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033948	Orphanet:528663	ordo_disease
MONDO:0008947	biolink:Disease	bilateral striopallidodentate calcinosis	A basal ganglia disease characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.	SCTID:230311004|DOID:0060230|UMLS:C0393589|HP:0002135|ICD9:348.89|SCTID:110997000|MESH:C536275|MedDRA:10059626|Orphanet:1980|OMIMPS:213600|ICD9:333.0|UMLS:CN852731	mondo.json	BSPDC|primary familial brain calcification|basal ganglia calcification|idiopathic basal ganglia calcification|basal ganglia degeneration with calcification|Fahr disease|cerebrovascular ferrocalcinosis|PFBC|basal ganglia calcification, idiopathic	http://purl.obolibrary.org/obo/MONDO_0008947	Orphanet:1980|DOID:0060230|UMLS:C0393589|UMLS:CN852731|http://identifiers.org/snomedct/110997000|http://identifiers.org/snomedct/230311004|https://omim.org/phenotypicSeries/PS213600|http://identifiers.org/mesh/C536275	ordo_disease
MONDO:0033947	biolink:Disease	hereditary angioedema with normal C1Inh		Orphanet:528647	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033947	Orphanet:528647	ordo_disease
MONDO:0033946	biolink:Disease	hereditary angioedema with C1Inh deficiency	Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.	OMIM:106100|Orphanet:528623	mondo.json	angioedema, hereditary, type 2|angioedema, hereditary, type 1|angioedema, hereditary, type 1/2|angioedema, hereditary, 1 and 2|HAE1|C1 esterase inhibitor, deficiency of|angioneurotic edema, hereditary|angioedema, hereditary, type I	http://purl.obolibrary.org/obo/MONDO_0033946	Orphanet:528623|https://omim.org/entry/106100	ordo_disease
MONDO:0008946	biolink:Disease	cerebral angiopathy, dysphoric		UMLS:C1859283|OMIM:213500|MESH:C565864	mondo.json	cerebral angiopathy, dysphoric	http://purl.obolibrary.org/obo/MONDO_0008946	http://identifiers.org/mesh/C565864|UMLS:C1859283|https://omim.org/entry/213500	
MONDO:0008945	biolink:Disease	myoclonic cerebellar dyssynergia	A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)	SCTID:73495003|EFO:1001053|UMLS:C1834580|OMIM:213400|MESH:D002527|GARD:0009256|OMIM:159700|DOID:12707|UMLS:C0007761	mondo.json	cerebelloparenchymal disorder V|Ramsay Hunt cerebellar syndrome|myoclonus and ataxia|Ramsay Hunt syndrome type 1|CPD5|dyssynergia cerebellaris myoclonica|Ramsay Hunt syndrome|dentate cerebellar ataxia|dentatorubral atrophy|Spinodentate atrophy|Ramsay Hunt syndrome type 1 (formerly)|progressive cerebellar tremor|cerebelloparenchymal disorder type 5|cerebelloparenchymal disorder 5|dyssynergia cerebellaris progressiva|primary dentatum atrophy|dyssynergia cerebellaris myoclonica of Hunt|progressive myoclonus ataxia	http://purl.obolibrary.org/obo/MONDO_0008945	UMLS:C0007761|DOID:12707|UMLS:C1834580|http://identifiers.org/mesh/D002527|http://identifiers.org/snomedct/73495003|https://omim.org/entry/213400	speculative
MONDO:0008944	biolink:Disease	Joubert syndrome 1	Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene.	OMIM:213300|DOID:0110980|UMLS:CN119531	mondo.json	Joubert-Boltshauser syndrome|Joubert syndrome type 1|JBTS1|CORS1|cerebelloparenchymal disorder 4|CPD4|INPP5E Joubert syndrome|Joubert syndrome 1|Joubert syndrome|Joubert syndrome caused by mutation in INPP5E|Cerebellooculorenal syndrome 1|cerebellooculorenal syndrome 1	http://purl.obolibrary.org/obo/MONDO_0008944	DOID:0110980|https://omim.org/entry/213300|UMLS:CN119531	
MONDO:0008943	biolink:Disease	autosomal recessive spinocerebellar ataxia 2	The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.	OMIM:213200|GARD:0001199|SCTID:715369006|DOID:0080061|MESH:C565865|Orphanet:1170|UMLS:C1859298	mondo.json	cerebellar granular cell hypoplasia and intellectual disability, congenital|CPDIII|autosomal recessive spinocerebellar ataxia type 2|PMPCA autosomal recessive congenital cerebellar ataxia|cerebellar hypoplasia, nonprogressive Norman type|SCAR2|autosomal recessive congenital cerebellar ataxia caused by mutation in PMPCA|autosomal recessive cerebelloparenchymal disorder type 3|cerebelloparenchymal disorder 3|CPD3|spinocerebellar ataxia, autosomal recessive 2|CPD 3|cerebellar granular cell hypoplasia and mental retardation, congenital	http://purl.obolibrary.org/obo/MONDO_0008943	http://identifiers.org/snomedct/715369006|http://identifiers.org/mesh/C565865|UMLS:C1859298|DOID:0080061|Orphanet:1170|https://omim.org/entry/213200	ordo_disease
MONDO:0008942	biolink:Disease	obsolete cerebelloparenchymal disorder II			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008942		
MONDO:0008941	biolink:Disease	hepatic fibrosis-renal cysts-intellectual disability syndrome	A rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.	Orphanet:2031|MESH:C565867|GARD:0005177|OMIM:213010	mondo.json	Thompson Baraitser syndrome|Thompson-Baraitser syndrome|cerebellar vermis aplasia with associated features suggesting SMITH-Lemli-Opitz syndrome and Meckel syndrome	http://purl.obolibrary.org/obo/MONDO_0008941	Orphanet:2031|https://omim.org/entry/213010|http://identifiers.org/mesh/C565867	ordo_malformation_syndrome
MONDO:0008940	biolink:Disease	obsolete endosteal sclerosis-cerebellar hypoplasia syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008940		
NCBITaxon:9935	biolink:OrganismalEntity	Ovis		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_9935		
UBERON:0005563	biolink:AnatomicalEntity	trigeminal neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005563		
HGNC:1371	biolink:NamedThing	CA12			mondo.json		http://identifiers.org/hgnc/1371		
UBERON:0005562	biolink:AnatomicalEntity	thymus primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005562		
NCBITaxon:9940	biolink:OrganismalEntity	Ovis aries		GC_ID:1	mondo.json	domestic sheep|lambs|Ovis ovis|wild sheep|Ovis orientalis aries|Ovis ammon aries|sheep	http://purl.obolibrary.org/obo/NCBITaxon_9940		
HGNC:1377	biolink:NamedThing	CA5A			mondo.json		http://identifiers.org/hgnc/1377		
FOODON:00002239	biolink:NamedThing	shrimp food product			mondo.json		http://purl.obolibrary.org/obo/FOODON_00002239		
UBERON:0005568	biolink:AnatomicalEntity	rhombomere 1 roof plate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005568		
UBERON:0005567	biolink:AnatomicalEntity	rhombomere 1 lateral wall			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005567		
HGNC:1375	biolink:NamedThing	CA4			mondo.json		http://identifiers.org/hgnc/1375		
UBERON:0005565	biolink:AnatomicalEntity	facio-acoustic neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005565		
HGNC:1373	biolink:NamedThing	CA2			mondo.json		http://identifiers.org/hgnc/1373		
UBERON:0005564	biolink:AnatomicalEntity	gonad primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005564		
MONDO:0006338	biolink:Disease	obsolete ovarian germ cell tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006338		
MONDO:0021971	biolink:Disease	obsolete Baraitser Rodeck garner syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021971		
MONDO:0006339	biolink:Disease	ovarian microcystic stromal tumor	A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma.	UMLS:C4054287|EFO:1000424|Orphanet:569248|NCIT:C121953	mondo.json	MCST|microcystic stromal tumor	http://purl.obolibrary.org/obo/MONDO_0006339	Orphanet:569248|NCIT:C121953|UMLS:C4054287	
MONDO:0008999	biolink:Disease	Cohen syndrome	Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.	ICD9:759.89|SCTID:56604005|DOID:0111590|Orphanet:193|MESH:C536438|OMIM:216550|GARD:0006126|MedDRA:10049066|UMLS:C1854061	mondo.json	Chs1, formerly|Chs1|cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness|pepper syndrome|hypotonia, obesity, and prominent incisors|Coh|Cohen syndrome|COH1	http://purl.obolibrary.org/obo/MONDO_0008999	http://identifiers.org/snomedct/56604005|Orphanet:193|http://identifiers.org/mesh/C536438|UMLS:C1854061|DOID:0111590|https://omim.org/entry/216550	clingen|gard_rare|ordo_malformation_syndrome
MONDO:0006336	biolink:Disease	ovarian endometrioid adenocarcinoma with squamous differentiation	An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance.	NCIT:C40061|EFO:1000417	mondo.json	ovarian adenosquamous carcinoma|ovarian endometrioid adenocarcinoma with squamous differentiation|ovarian adenoacanthoma	http://purl.obolibrary.org/obo/MONDO_0006336	NCIT:C40061	
MONDO:0008998	biolink:Disease	Cockayne syndrome type 3	Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood.	GARD:0001417|OMIM:216411|OMIM:133540|OMIM:216400|Orphanet:90324	mondo.json	Cockayne syndrome type 3|Cockayne syndrome type C|Cockayne syndrome, type III|Cockayne syndrome type III	http://purl.obolibrary.org/obo/MONDO_0008998	Orphanet:90324	ordo_clinical_subtype
MONDO:0006337	biolink:Disease	ovarian endometriosis	A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions.	NCIT:C27628|SCTID:266589005|ICD9:617.1|UMLS:C0156344|ICD10CM:N80.1|EFO:1000418|DOID:11432	mondo.json	ovary endometriosis (disease)|endometriosis (disease) of ovary|endometriosis of ovary|ovarian endometriosis	http://purl.obolibrary.org/obo/MONDO_0006337	UMLS:C0156344|http://identifiers.org/snomedct/266589005|NCIT:C27628|DOID:11432|http://purl.bioontology.org/ontology/ICD10CM/N80.1	
MONDO:0008997	biolink:Disease	obsolete Cockayne syndrome A			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008997		
MONDO:0006334	biolink:Disease	obsolete ovarian embryonal carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006334		
MONDO:0008996	biolink:Disease	obsolete COACH syndrome 1	OBSOLETE. A very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).		mondo.json		http://purl.obolibrary.org/obo/MONDO_0008996		ordo_disease
MONDO:0006335	biolink:Disease	ovarian endometrioid adenocarcinoma	An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma.	ONCOTREE:EOV|Orphanet:454723|UMLS:C0346163|NCIT:C7979|SCTID:254852002|EFO:1000416|DOID:5828	mondo.json	ovarian endometrioid adenocarcinoma|endometrioid carcinoma of the ovary|endometrium adenocarcinoma of ovary|endometrioid ovary carcinoma|endometrioid carcinoma ovary|endometrioid adenocarcinoma of the ovary|endometrioid adenocarcinoma of ovary|endometrioid carcinoma of ovary|endometrioid cancer of the ovary|endometrioid ovarian cancer|ovarian endometrioid cancer|ovary endometrium adenocarcinoma|endometrioid cancer of ovary|ovarian endometrioid carcinoma	http://purl.obolibrary.org/obo/MONDO_0006335	http://identifiers.org/snomedct/254852002|Orphanet:454723|DOID:5828|NCIT:C7979|UMLS:C0346163	ordo_disease
NCBITaxon:9989	biolink:OrganismalEntity	Rodentia		GC_ID:1	mondo.json	rodent|rodents	http://purl.obolibrary.org/obo/NCBITaxon_9989		
MONDO:0008995	biolink:Disease	Yunis-Varon syndrome	Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.	DOID:0060589|UMLS:C1857663|OMIM:216340|GARD:0000331|MESH:C536719|Orphanet:3472	mondo.json	cleidocranial dysplasia-micrognathia-absent thumbs syndrome|cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia|cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia|Yunis-Varón syndrome|cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|Yunis Varon syndrome|Yunis-Varon syndrome|YVS	http://purl.obolibrary.org/obo/MONDO_0008995	UMLS:C1857663|http://identifiers.org/mesh/C536719|DOID:0060589|https://omim.org/entry/216340|Orphanet:3472	gard_rare|ordo_malformation_syndrome
MONDO:0006332	biolink:Disease	obsolete ovarian choriocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006332		
MONDO:0008994	biolink:Disease	cleidocranial dysplasia, recessive form		GARD:0010623|MESH:C565843|UMLS:C1859080|OMIM:216330	mondo.json	cleidocranial dysplasia recessive form|autosomal recessive form of cleidocranial dysostosis|cleidocranial dysplasia, recessive form	http://purl.obolibrary.org/obo/MONDO_0008994	http://identifiers.org/mesh/C565843|UMLS:C1859080|https://omim.org/entry/216330	gard_rare
MONDO:0006333	biolink:Disease	obsolete ovarian dysgerminoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006333		
MONDO:0008993	biolink:Disease	cleft palate-stapes fixation-oligodontia syndrome	Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971.	UMLS:C1859081|OMIM:216300|GARD:0001393|Orphanet:2010|MESH:C565844	mondo.json	cleft palate, deafness, and oligodontia|cleft palate stapes fixation oligodontia	http://purl.obolibrary.org/obo/MONDO_0008993	http://identifiers.org/mesh/C565844|https://omim.org/entry/216300|UMLS:C1859081|Orphanet:2010	ordo_malformation_syndrome|gard_rare
MONDO:0006330	biolink:Disease	ossifying fibromyxoid tumor	A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients.	ICDO:8842/0|DOID:2685|NCIT:C6582|SCTID:404076001|EFO:1000408|ONCOTREE:OFMT|UMLS:C1266128	mondo.json	OFMT|ossifying fibromyxoid tumor (morphologic abnormality)|ossifying fibromyxoid neoplasm|ossifying fibromyxoma	http://purl.obolibrary.org/obo/MONDO_0006330	UMLS:C1266128|DOID:2685|NCIT:C6582|http://identifiers.org/snomedct/404076001	
MONDO:0008992	biolink:Disease	Juberg-Hayward syndrome	Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.	GARD:0003060|SCTID:721874001|UMLS:C0796099|OMIM:216100|Orphanet:2319|MESH:C537690	mondo.json	JHS|cleft LIP/palate with abnormal thumbs and microcephaly|Juberg-Hayward syndrome|cleft lip/palate-abnormal thumbs-microcephaly syndrome|Orocraniodigital syndrome	http://purl.obolibrary.org/obo/MONDO_0008992	http://identifiers.org/mesh/C537690|http://identifiers.org/snomedct/721874001|https://omim.org/entry/216100|UMLS:C0796099|Orphanet:2319	gard_rare|ordo_malformation_syndrome
MONDO:0006331	biolink:Disease	obsolete ovarian carcinosarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006331		
MONDO:0008991	biolink:Disease	Verloove Vanhorick-Brubakk syndrome	Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.	OMIM:215850|Orphanet:3429|MESH:C536541|GARD:0005482|UMLS:C1859082|SCTID:764697003	mondo.json	cleft-limb-heart malformation syndrome syndrome|Verloove Vanhorick Brubakk syndrome|cleft-limb-heart malformation syndrome|cleft lip-limb and heart malformations syndrome|Clh syndrome|cleft limb heart malformation syndrome	http://purl.obolibrary.org/obo/MONDO_0008991	http://identifiers.org/snomedct/764697003|http://identifiers.org/mesh/C536541|UMLS:C1859082|Orphanet:3429|https://omim.org/entry/215850	gard_rare|ordo_malformation_syndrome
MONDO:0008990	biolink:Disease	cleft larynx, posterior		Orphanet:93940|GARD:0004015|OMIM:215800|Orphanet:2005	mondo.json	cleft larynx, posterior|Novak syndrome|laryngotracheoesophageal cleft pulmonary hypoplasia|stridor, congenital	http://purl.obolibrary.org/obo/MONDO_0008990	https://omim.org/entry/215800	gard_rare
HGNC:1382	biolink:NamedThing	CA8			mondo.json		http://identifiers.org/hgnc/1382		
HP:0003027	biolink:PhenotypicFeature	Mesomelia	Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.	UMLS:C0549306	mondo.json	Mesomelic shortening of limbs|Mesomelic limb shortening|Symmetric mesomelic limb shortness|Disproportionately short middle portion of limb	http://purl.obolibrary.org/obo/HP_0003027		
FOODON:00002244	biolink:NamedThing	snail food product			mondo.json		http://purl.obolibrary.org/obo/FOODON_00002244		
MONDO:0018327	biolink:Disease	glomus tumor	A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities.	ICDO:8711/0|Orphanet:391651|NCIT:C3060|SCTID:403969002|MESH:D005918|DOID:2431|UMLS:C0017653|ICD9:239.7	mondo.json	glomus neoplasm|glomus tumor|glomus tumour	http://purl.obolibrary.org/obo/MONDO_0018327	Orphanet:391651|DOID:2431|http://identifiers.org/snomedct/403969002|NCIT:C3060|http://identifiers.org/mesh/D005918|UMLS:C0017653	ordo_disease
MONDO:0018326	biolink:Disease	transient neonatal myasthenia gravis	Transient neonatal myasthenia gravis (MG) is a rare form of MG occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies.	ICD10CM:P94.0|Orphanet:391504|UMLS:C0495465|NCIT:C117308	mondo.json	NMG|neonatal myasthenia gravis|transient neonatal acquired myasthenia|transient neonatal autoimmune myasthenia gravis	http://purl.obolibrary.org/obo/MONDO_0018326	UMLS:C0495465|NCIT:C117308|Orphanet:391504|http://purl.bioontology.org/ontology/ICD10CM/P94.0	ordo_clinical_subtype
MONDO:0018329	biolink:Disease	persistent combined dystonia		Orphanet:391711	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018329	Orphanet:391711	ordo_group_of_disorders|disease_grouping
MONDO:0018328	biolink:Disease	homozygous familial hypercholesterolemia		Orphanet:391665|SCTID:238078005	mondo.json	homozygous familial hypercholesterolemia|HoFH	http://purl.obolibrary.org/obo/MONDO_0018328	Orphanet:391665|http://identifiers.org/snomedct/238078005	ordo_disease
MONDO:0021964	biolink:Disease	bagatelle Cassidy syndrome		GARD:0000398|UMLS:C2931616|MESH:C537796	mondo.json	macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay|macrocephaly short limbs deafness	http://purl.obolibrary.org/obo/MONDO_0021964	http://identifiers.org/mesh/C537796|UMLS:C2931616	gard_rare
MONDO:0018323	biolink:Disease	HSD10 disease, neonatal type	HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.	UMLS:CN204975|Orphanet:391457	mondo.json	HSD10 deficiency, neonatal type|2-methyl-3-hydroxybutyric aciduria, neonatal type|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type|MHBD deficiency, neonatal type	http://purl.obolibrary.org/obo/MONDO_0018323	Orphanet:391457|UMLS:CN204975	ordo_clinical_subtype
MONDO:0018322	biolink:Disease	HSD10 disease, infantile type	HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age.	UMLS:CN204974|Orphanet:391428	mondo.json	2-methyl-3-hydroxybutyric aciduria, infantile type|HSD10 deficiency, infantile type|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type|HSD10 disease, classic type|2-methyl-3-hydroxybutyric aciduria, classic type|MHBD deficiency, infantile type|HSD10 deficiency, classic type|MHBD deficiency, classic type|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type	http://purl.obolibrary.org/obo/MONDO_0018322	Orphanet:391428|UMLS:CN204974	ordo_clinical_subtype
MONDO:0018325	biolink:Disease	juvenile myasthenia gravis	Juvenile myasthenia gravis (MG) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age.	Orphanet:391497	mondo.json	myasthenia gravis of childhood|pediatric myasthenia gravis|juvenile autoimmune myasthenia gravis|juvenile acquired myasthenia|childhood myasthenia gravis	http://purl.obolibrary.org/obo/MONDO_0018325	Orphanet:391497	ordo_clinical_subtype
MONDO:0021966	biolink:Disease	baker Vinters syndrome	A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles. This is an n-of-1 use case where only one patient or family has been described with this disorder.	MESH:C537899|GARD:0000808|UMLS:C2931659	mondo.json	hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies	http://purl.obolibrary.org/obo/MONDO_0021966	http://identifiers.org/mesh/C537899|UMLS:C2931659	n_of_one|gard_rare
HGNC:1388	biolink:NamedThing	CACNA1A			mondo.json		http://identifiers.org/hgnc/1388		
MONDO:0018324	biolink:Disease	adult-onset myasthenia gravis	Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma.	Orphanet:391490	mondo.json	adult-onset acquired myasthenia|adult-onset autoimmune myasthenia gravis	http://purl.obolibrary.org/obo/MONDO_0018324	Orphanet:391490	ordo_clinical_subtype
HGNC:1389	biolink:NamedThing	CACNA1B			mondo.json		http://identifiers.org/hgnc/1389		
HGNC:1386	biolink:NamedThing	CABP4			mondo.json		http://identifiers.org/hgnc/1386		
MONDO:0021969	biolink:Disease	Banti syndrome	A syndrome characterized by hypochromic anemia with leukopenia, splenomegaly, late onset hepatic cirrhosis and death from gastric hemorrhages.	MESH:C537903|GARD:0005888	mondo.json	idiopathic congestive splenomegaly|Banti's disease|idiopathic portal hypertension|Banti's syndrome	http://purl.obolibrary.org/obo/MONDO_0021969	http://identifiers.org/mesh/C537903	gard_rare
MONDO:0018321	biolink:Disease	atypical juvenile parkinsonism	Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.	UMLS:CN204972|SCTID:725146001|OMIM:615530|UMLS:C4510873|Orphanet:391411	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018321	Orphanet:391411|http://identifiers.org/snomedct/725146001|UMLS:CN204972|UMLS:C4510873	ordo_disease
MONDO:0018320	biolink:Disease	primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		Orphanet:391408|UMLS:CN204971	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018320	Orphanet:391408|UMLS:CN204971	ordo_disease
HGNC:1385	biolink:NamedThing	CABP2			mondo.json		http://identifiers.org/hgnc/1385		
MONDO:0021960	biolink:Disease	ureteritis	An acute or chronic inflammatory process affecting the ureter.	NCIT:C78666|UMLS:C0041959|SCTID:111405003	mondo.json	Inflammation of ureter|ureteritis|Ureteritis	http://purl.obolibrary.org/obo/MONDO_0021960	UMLS:C0041959|http://identifiers.org/snomedct/111405003|NCIT:C78666	
MONDO:0006349	biolink:Disease	papillary cystic neoplasm	A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures.	NCIT:C4179|UMLS:C0334357|EFO:1000448	mondo.json	papillary cystic neoplasm|papillary cystic tumor	http://purl.obolibrary.org/obo/MONDO_0006349	NCIT:C4179|UMLS:C0334357	
MONDO:0006347	biolink:Disease	pancreatic large cell neuroendocrine carcinoma	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells.	EFO:1000442|UMLS:C2987239|NCIT:C95582	mondo.json	pancreatic large cell NEC|large cell neuroendocrine carcinoma of pancreas|pancreas large cell neuroendocrine carcinoma|pancreatic large cell neuroendocrine carcinoma|pancreatic large cell NEC G3	http://purl.obolibrary.org/obo/MONDO_0006347	NCIT:C95582|UMLS:C2987239	
MONDO:0021962	biolink:Disease	baetz-greenwalt syndrome		MESH:C537795|GARD:0009216|UMLS:C2931615	mondo.json	hypoplastic right-sided heart complex	http://purl.obolibrary.org/obo/MONDO_0021962	UMLS:C2931615|http://identifiers.org/mesh/C537795	gard_rare
MONDO:0006348	biolink:Disease	pancreatic small cell neuroendocrine carcinoma	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells.	EFO:1000444|UMLS:C2987240|NCIT:C95583	mondo.json	pancreatic small cell neuroendocrine carcinoma|pancreatic small cell NEC G3|small cell carcinoma of endocrine pancreas|endocrine pancreas small cell carcinoma|pancreatic small cell NEC	http://purl.obolibrary.org/obo/MONDO_0006348	NCIT:C95583|UMLS:C2987240	
MONDO:0006345	biolink:Disease	palmar fibromatosis	A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males.	SCTID:274142002|SCTID:203045001|EFO:0004229|NCIT:C3469|HP:0005679|EFO:1000438|MESH:D004387	mondo.json	palmar fibromatosis|Dupuytren contracture (disease)|Dupuytren's contracture|palmar part of manus fibromatosis|Dupuytren contracture	http://purl.obolibrary.org/obo/MONDO_0006345	http://identifiers.org/mesh/D004387|http://identifiers.org/snomedct/203045001|NCIT:C3469	
MONDO:0006346	biolink:Disease	pancreatic acinar cell carcinoma	An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis.	UMLS:C0279661|DOID:5742|ONCOTREE:PAAC|EFO:1000439|Orphanet:424046|NCIT:C7977	mondo.json	carcinoma of pancreatic acinar cell|acinar cell carcinoma of the pancreas|pancreatic acinar cell carcinoma|pancreas acinar cell adenocarcinoma|pancreatic acinar cell adenocarcinoma|acinar cell adenocarcinoma of pancreas|acinar cell adenocarcinoma of the pancreas|PAAC|acinar cell carcinoma of pancreas|Pancreatic acinar cell cancer	http://purl.obolibrary.org/obo/MONDO_0006346	Orphanet:424046|UMLS:C0279661|DOID:5742|NCIT:C7977	ordo_disease
MONDO:0006343	biolink:Disease	ovarian transitional cell carcinoma	A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present.	UMLS:C1335184|NCIT:C5240|DOID:4000|EFO:1000435	mondo.json	transitional cell carcinoma of ovary|ovary transitional cell carcinoma|ovarian transitional cell carcinoma|malignant ovarian transitional cell neoplasm|ovarian transitional cell cancer|transitional cell carcinoma of the ovary|ovarian transitional cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0006343	DOID:4000|NCIT:C5240|UMLS:C1335184	
MONDO:0006344	biolink:Disease	ovarian yolk sac tumor	A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular.	UMLS:C0346188|SCTID:254876005|NCIT:C8107|EFO:1000437|DOID:5350|ONCOTREE:OYST	mondo.json	ovarian yolk Sac neoplasm|yolk Sac neoplasm of ovary|ovarian yolk sac tumor|germ cell endodermal sinus neoplasm of the ovary|endodermal sinus tumor of the ovary|ovarian germ cell endodermal sinus tumor|germ cell endodermal sinus neoplasm of ovary|endodermal sinus tumor of ovary|ovarian endodermal sinus neoplasm|endodermal sinus neoplasm of the ovary|ovary yolk sac tumor|ovarian endodermal sinus tumor|germ cell endodermal sinus tumor of the ovary|endodermal sinus neoplasm of ovary|yolk sac tumor|germ cell endodermal sinus tumor of ovary|yolk Sac tumor of the ovary|yolk Sac tumor of ovary|ovarian germ cell endodermal sinus neoplasm|yolk Sac neoplasm of the ovary	http://purl.obolibrary.org/obo/MONDO_0006344	DOID:5350|http://identifiers.org/snomedct/254876005|NCIT:C8107|UMLS:C0346188	
MONDO:0006341	biolink:Disease	obsolete ovarian small cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006341		
MONDO:0006342	biolink:Disease	obsolete ovarian squamous cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006342		
MONDO:0006340	biolink:Disease	ovarian serous adenofibroma	A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma.	UMLS:C1518729|NCIT:C40031|DOID:5474|EFO:1000428	mondo.json	ovary serous adenofibroma|serous adenofibroma of ovary|ovarian serous adenofibroma	http://purl.obolibrary.org/obo/MONDO_0006340	DOID:5474|UMLS:C1518729|NCIT:C40031	
HGNC:1393	biolink:NamedThing	CACNA1F			mondo.json		http://identifiers.org/hgnc/1393		
MONDO:0018319	biolink:Disease	familial episodic pain syndrome		UMLS:CN228162|UMLS:CN204967|DOID:0111728|OMIMPS:615040|Orphanet:391384|GARD:0012684	mondo.json	FEPS	http://purl.obolibrary.org/obo/MONDO_0018319	UMLS:CN228162|UMLS:CN204967|Orphanet:391384|https://omim.org/phenotypicSeries/PS615040|DOID:0111728	gard_rare|ordo_disease
HGNC:1394	biolink:NamedThing	CACNA1G			mondo.json		http://identifiers.org/hgnc/1394		
HGNC:1391	biolink:NamedThing	CACNA1D			mondo.json		http://identifiers.org/hgnc/1391		
MONDO:0018316	biolink:Disease	fatal post-viral neurodegenerative disorder		Orphanet:391343|UMLS:CN204961	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018316	UMLS:CN204961|Orphanet:391343	ordo_disease
HGNC:1390	biolink:NamedThing	CACNA1C			mondo.json		http://identifiers.org/hgnc/1390		
MONDO:0018315	biolink:Disease	X-linked osteoporosis with fractures		Orphanet:391330|OMIM:300910	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018315	Orphanet:391330	ordo_disease
MONDO:0018318	biolink:Disease	disorder of asparagine metabolism		Orphanet:391381|UMLS:CN227320	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018318	UMLS:CN227320|Orphanet:391381	ordo_group_of_disorders|disease_grouping
MONDO:0018317	biolink:Disease	growth retardation-mild developmental delay-chronic hepatitis syndrome		Orphanet:391366|UMLS:CN204964	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018317	UMLS:CN204964|Orphanet:391366	ordo_disease
MONDO:0018312	biolink:Disease	histoplasmosis	A disease caused by the fungus Histoplasma capsulatum. It primarily affects the lungs but can also occur as a disseminated disease that affects additional organs. The acute respiratory disease has symptoms similar to those of a cold or flu and it usually resolves without treatment in healthy individuals. The disseminated form is generally fatal if untreated.	MESH:D006660|ICD9:115|ICD10CM:B39|SCTID:12962009|Orphanet:390|MESH:C538362|DOID:1731|UMLS:C0019655|ICD9:115.9|MedDRA:10021808|UMLS:C0035288|MedDRA:10020141|ICD9:115.90|NCIT:C77201|ICD9:115.99|EFO:0007310	mondo.json	Histoplasma infectious disease|Histoplasma caused disease or disorder|darling disease|Histoplasma disease or disorder	http://purl.obolibrary.org/obo/MONDO_0018312	NCIT:C77201|Orphanet:390|http://purl.bioontology.org/ontology/ICD10CM/B39|http://identifiers.org/mesh/D006660|UMLS:C0019655|http://identifiers.org/snomedct/12962009|DOID:1731	ordo_disease
MONDO:0021953	biolink:Disease	tuberculous fibrosis of lung	Scarring of the lung parenchyma caused by pulmonary tuberculosis.	NCIT:C35088|ICD9:011.46|UMLS:C0041336|SCTID:90117007|ICD9:011.44|ICD9:011.43|ICD9:011.42|ICD9:011.41|ICD9:011.40	mondo.json	tuberculous fibrosis of lung|Tuberculous fibrosis of lung|Tuberculous Fibrosis of Lung	http://purl.obolibrary.org/obo/MONDO_0021953	UMLS:C0041336|http://identifiers.org/snomedct/90117007|NCIT:C35088	
MONDO:0018311	biolink:Disease	acromelanosis	Acromelanosis is a congenital hyperpigmentation of the skin usually located on the acral areas of the fingers and toes. It is mostly observed in newborns or during the first years of life.	Orphanet:39|GARD:0004500|SCTID:239089006|ICD9:709.09	mondo.json	progressive acromelanosis	http://purl.obolibrary.org/obo/MONDO_0018311	Orphanet:39|http://identifiers.org/snomedct/239089006	gard_rare|ordo_disease
MONDO:0018314	biolink:Disease	infantile-onset mesial temporal lobe epilepsy with severe cognitive regression	A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.	UMLS:CN204956|Orphanet:391316	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018314	UMLS:CN204956|Orphanet:391316	ordo_disease
CHEBI:22712	biolink:ChemicalSubstance	benzenes	Any benzenoid aromatic compound consisting of the benzene skeleton and its substituted derivatives.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_22712		
MONDO:0018313	biolink:Disease	obsolete uveal melanoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018313		
MONDO:0021957	biolink:Disease	autosomal recessive nonsyndromic congenital nuclear cataract		GARD:0009492|UMLS:C2931470|MESH:C537298|OMIM:609376	mondo.json	congenital nuclear cataract, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0021957	http://identifiers.org/mesh/C537298|UMLS:C2931470	gard_rare
HGNC:1397	biolink:NamedThing	CACNA1S			mondo.json		http://identifiers.org/hgnc/1397		
CHEBI:22718	biolink:ChemicalSubstance	benzoates	A monocarboxylic acid anion obtained by deprotonation of the carboxy group of any benzoic acid.		mondo.json	benzoate anion	http://purl.obolibrary.org/obo/CHEBI_22718		
MONDO:0018310	biolink:Disease	Langerhans cell histiocytosis	Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues.	ICDO:9751/1|Orphanet:389|UMLS:C0432554|UMLS:C0432553|ICD9:202.5|GARD:0006858|UMLS:C0432552|UMLS:C0432551|OMIM:604856|MedDRA:10069698|UMLS:C0432550|ICD9:277.89|NCIT:C3107|DOID:2571|UMLS:C0019621|ICDO:9754/3|ONCOTREE:LCH|EFO:1000318|UMLS:C0432549|SCTID:65399007|UMLS:C0432548|ICDO:9753/1|ICDO:9751/3|UMLS:C0432547|ICDO:9752/1	mondo.json	letterer-Siwe disease of lymph nodes of head, face and/or neck|letterer-Siwe disease involving intrapelvic lymph nodes|Langerhans cell histiocytosis, NOS|letterer-Siwe disease involving lymph nodes of axilla and upper limb|letterer-Siwe disease involving lymph nodes of head, face, and neck|letterer-Siwe disease of lymph nodes of axilla and/or upper limb|letterer-Siwe disease of spleen|letterer-Siwe disease involving lymph nodes of multiple sites|letterer-Siwe disease involving lymph nodes of head, face and neck|Langerhan's cell histiocytosis|letterer-Siwe disease involving lymph nodes of inguinal region and lower limb|letterer-Siwe disease involving intra-abdominal lymph nodes|histiocytosis X|letterer-Siwe disease involving intrathoracic lymph nodes|letterer-Siwe disease of intrapelvic lymph nodes|letterer-Siwe disease of lymph nodes of multiple sites|letterer-Siwe disease involving spleen|letterer-Siwe disease of lymph nodes of axilla and upper limb|letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb|Langerhans cell histiocytosis, Not otherwise specified|Langerhans cell granulomatosis|letterer-Siwe disease of lymph nodes of inguinal region and lower limb|letterer-Siwe disease of lymph nodes of head, face and neck|letterer-Siwe disease of intra-abdominal lymph nodes|letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb|LCH|letterer-Siwe disease of intrathoracic lymph nodes|Lch|Langerhans-cell histiocytosis|Langerhans cell histiocytosis	http://purl.obolibrary.org/obo/MONDO_0018310	http://identifiers.org/snomedct/65399007|Orphanet:389|https://omim.org/entry/604856|UMLS:C0432549|UMLS:C0432547|UMLS:C0432548|UMLS:C0432552|UMLS:C0432553|UMLS:C0432550|UMLS:C0432551|UMLS:C0432554|DOID:2571|UMLS:C0019621|NCIT:C3107	ordo_group_of_disorders|disease_grouping
HGNC:1395	biolink:NamedThing	CACNA1H			mondo.json		http://identifiers.org/hgnc/1395		
MONDO:0006318	biolink:Disease	obsolete nevus of Ito			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006318		
MONDO:0006319	biolink:Disease	obsolete nevus of Ota			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006319		
MONDO:0006316	biolink:Disease	neuroblastic tumor	A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells.	EFO:1000393|NCIT:C6963|UMLS:C1334953	mondo.json	neuroblastic tumor	http://purl.obolibrary.org/obo/MONDO_0006316	NCIT:C6963|UMLS:C1334953	
MONDO:0008979	biolink:Disease	chorea, benign familial	Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion.	UMLS:C1859098|OMIM:118700|GARD:0001305|MESH:C565851|OMIM:215450	mondo.json	benign hereditary chorea|chorea, benign familial|chorea familial benign	http://purl.obolibrary.org/obo/MONDO_0008979	UMLS:C1859098|https://omim.org/entry/215450|http://identifiers.org/mesh/C565851	gard_rare
MONDO:0006317	biolink:Disease	neurothekeoma	A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma.	NCIT:C7018|ICDO:9562/0|UMLS:C0206730|EFO:1000394|MESH:D018321	mondo.json	nerve sheath Myxoma|neurothekeoma	http://purl.obolibrary.org/obo/MONDO_0006317	http://identifiers.org/mesh/D018321|NCIT:C7018|UMLS:C0206730	
MONDO:0008978	biolink:Disease	chordoma	Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.	ONCOTREE:CHDM|OMIM:215400|NCIT:C2947|Orphanet:178|GARD:0001303|MESH:D002817|DOID:3302|MedDRA:10008747|HP:0010762|ICDO:9370/3|UMLS:C0008487	mondo.json	chordoma|chordoma, susceptibility to|CHDM|chordoma, malignant|notochordal sarcoma|susceptibility to chordoma|chordoma (disease)|notochordoma	http://purl.obolibrary.org/obo/MONDO_0008978	https://omim.org/entry/215400|http://identifiers.org/mesh/D002817|NCIT:C2947|Orphanet:178|UMLS:C0008487|DOID:3302	ordo_disease
MONDO:0021950	biolink:Disease	autoimmune oophoritis	Autoimmune oophoritis is a rare cause of primary ovarian insufficiency (POI). It happens when the body's immune system mistakenly attacks the ovaries causing inflammation, atrophy and fibrosis. These changes stop the ovaries from working normally. The main symptoms of autoimmune oophorotis are irregular or absent menstrual period (amenorrhea) and symptoms related to ovarian cysts such as abdominal cramping, bloating, nausea and vomiting. Autoimmune oophoritis may occur as part of autoimmune polyglandular syndrome type I and type II but has also been associated with lupus, pernicious anemia, myasthenia gravis and other autoimmune conditions. The underlying cause of autoimmune oophoritis is unknown. Diagnosis involves a special blood test which looks for anti-steroid or anti-ovarian antibodies, a pelvic ultrasound to look for enlarged cystic ovaries and tests to rule out other possible causes of POI. Management of autoimmune oophoritis involves emotional support, possible estrogen replacement therapy and management of other autoimmune conditions.	MESH:C538274|UMLS:C0878654|GARD:0009461	mondo.json		http://purl.obolibrary.org/obo/MONDO_0021950	UMLS:C0878654|http://identifiers.org/mesh/C538274	gard_rare
MONDO:0006314	biolink:Disease	nasal cavity polyp	A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection.	EFO:1000391|MESH:D009298|ICD9:471.0|UMLS:C0027430|NCIT:C3256|ICD9:471.9|SCTID:52756005	mondo.json	nasal polyp|polyp of nasal cavity|polyp of the nasal cavity|nasal cavity polyp	http://purl.obolibrary.org/obo/MONDO_0006314	NCIT:C3256|UMLS:C0027430|http://identifiers.org/mesh/D009298|http://identifiers.org/snomedct/52756005	
MONDO:0008977	biolink:Disease	chondrosarcoma	A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion.	HP:0006765|ONCOTREE:CHS|SCTID:443520009|UMLS:C0008479|GARD:0006055|MESH:D002813|Orphanet:55880|EFO:0000333|ICD9:170.9|ICDO:9220/3|DOID:3371|MedDRA:10008734|NCIT:C2946|OMIM:215300	mondo.json	chondrosarcoma|chondrosarcoma, malignant|chondrosarcoma, somatic mutation|primary chondrosarcoma of the bone|chondrosarcoma (disease)|chondrosarcoma of bone	http://purl.obolibrary.org/obo/MONDO_0008977	https://omim.org/entry/215300|http://identifiers.org/snomedct/443520009|http://identifiers.org/mesh/D002813|NCIT:C2946|UMLS:C0008479|DOID:3371|Orphanet:55880	ordo_disease
MONDO:0008976	biolink:Disease	chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome		OMIM:215250|MESH:C565852|UMLS:C1859104	mondo.json	chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0008976	UMLS:C1859104|https://omim.org/entry/215250|http://identifiers.org/mesh/C565852	
MONDO:0021952	biolink:Disease	autoimmune progesterone dermatitis	Autoimmune progesterone dermatitis (APD) is primarily characterized by a recurrent skin rash that varies in severity depending on the phase of the menstrual cycle. The rash generally appears during the second half of the cycle when levels of the hormone, progesterone, begin to rise and it subsides shortly after menstruation. Although the exact underlying cause of APD is not well understood, it is thought to involve an abnormal immune reaction (autoimmune response) triggered by a woman's own progesterone. Depending on the severity of the condition, treatment may include topical (applied to the skin) medications, systemic corticosteroids, hormone therapy to suppress the production of progesterone, and/or surgical removal of the ovaries.	UMLS:C1260879|MESH:C535299|SCTID:400009001|GARD:0009139|ICD9:708.8	mondo.json	autoimmune progesterone urticaria|APD|autoimmune progesterone dermatitis|autoimmune progesterone dermatitis/urticaria|progesterone dermatitis	http://purl.obolibrary.org/obo/MONDO_0021952	http://identifiers.org/mesh/C535299|http://identifiers.org/snomedct/400009001|UMLS:C1260879	gard_rare
MONDO:0006315	biolink:Disease	obsolete neoplastic medium-sized B-lymphocyte with basophilic cytoplasm		NCIT:C37005|EFO:1000392	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006315	NCIT:C37005	
MONDO:0006312	biolink:Disease	myofibroma	A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma.	UMLS:C1266121|ONCOTREE:MF|EFO:1000389|MESH:D047708|NCIT:C7052|ICDO:8824/0|DOID:4386	mondo.json	infantile hemangiopericytoma|myofibroma (morphologic abnormality)|lipoleiomyoma|myofibroma	http://purl.obolibrary.org/obo/MONDO_0006312	UMLS:C1266121|NCIT:C7052|DOID:4386|http://identifiers.org/mesh/D047708	
MONDO:0008975	biolink:Disease	otospondylomegaepiphyseal dysplasia	An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.	Orphanet:1427|SCTID:254060000|GARD:0004130|OMIMPS:184840|ICD9:759.89|DOID:0080026	mondo.json	chondrodystrophy with sensorineural deafness|OSMED|Nance-Sweeney chondrodysplasia|otospondylomegaepiphyseal dysplasia|Nance Sweeney chondrodysplasia|otospondylmegaepiphyseal dysplasia|oto-spondylo-mega-epiphyseal dysplasia|OSMED syndrome|Nance-Insley syndrome|Insley-Astley syndrome	http://purl.obolibrary.org/obo/MONDO_0008975	https://omim.org/phenotypicSeries/PS184840|DOID:0080026|Orphanet:1427|http://identifiers.org/snomedct/254060000	ordo_disease
MONDO:0006313	biolink:Disease	nabothian cyst	A benign, mucus-filled cervical cyst that occurs when mucus-secreting columnar epithelial cells are covered with squamous epithelium.	EFO:1000390|NCIT:C34835|SCTID:24565001|UMLS:C0027269|Wikipedia:Nabothian_cyst	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006313	UMLS:C0027269|http://identifiers.org/snomedct/24565001|NCIT:C34835	
MONDO:0008974	biolink:Disease	Greenberg dysplasia	A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.	SCTID:389261002|UMLS:CN199524|Orphanet:1426|MESH:C535858|UMLS:C2931048|GARD:0008754|DOID:0111588|OMIM:215140	mondo.json	skeletal dysplasia, Greenberg type|autosomal recessive lethal chondrodystrophy with congenital hydrops|GRBGD|hydrops-ectopic calcification-moth-eaten skeletal dysplasia|moth-eaten skeletal dysplasia|chondrodystrophy, hydropic and prenatally lethal type|Greenberg skeletal dysplasia|Greenberg dysplasia|hem|hem/Greenberg dysplasia|hem dysplasia|hem skeletal dysplasia|hydrops-ectopic calcification-motheaten syndrome|hydrops, ectopic calcification, moth-eaten skeletal dysplasia	http://purl.obolibrary.org/obo/MONDO_0008974	https://omim.org/entry/215140|http://identifiers.org/snomedct/389261002|Orphanet:1426|DOID:0111588|http://identifiers.org/mesh/C535858|UMLS:CN199524|UMLS:C2931048	gard_rare|ordo_disease
MONDO:0008973	biolink:Disease	chondrodysplasia punctata, Toriello type	Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.	Orphanet:79347|OMIM:215105|MESH:C565853|SCTID:715631005	mondo.json	chondrodysplasia punctata syndrome|Toriello-Higgins-Miller syndrome	http://purl.obolibrary.org/obo/MONDO_0008973	https://omim.org/entry/215105|Orphanet:79347|http://identifiers.org/mesh/C565853|http://identifiers.org/snomedct/715631005	ordo_malformation_syndrome
MONDO:0006310	biolink:Disease	obsolete mucinuos carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006310		
MONDO:0006311	biolink:Disease	myelodysplastic/myeloproliferative neoplasm	A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation.	ONCOTREE:MDS%2FMPN|NCIT:C27262|SCTID:445738007|MESH:D054437|EFO:1000388|DOID:4972|ICDO:9975/3	mondo.json	myelodysplastic/myeloproliferative neoplasm|MDS-MPD|MDS/MPN|myelodysplastic/myeloproliferative disorder|MDS/MPD|myeloproliferative/myelodysplastic syndromes|myelodysplastic/myeloproliferative disease|MPD-MDS|myelodysplastic/myeloproliferative neoplasms|myelodysplastic myeloproliferative disease|MPD/MDS|myelodysplastic/myeloproliferative diseases|myelodysplastic myeloproliferative cancer|myelodysplastic/myeloproliferative disorders|myeloproliferative/myelodysplastic disorders	http://purl.obolibrary.org/obo/MONDO_0006311	http://identifiers.org/snomedct/445738007|DOID:4972|NCIT:C27262	
MONDO:0008972	biolink:Disease	rhizomelic chondrodysplasia punctata type 1	A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause.	UMLS:C1859133|Orphanet:309789|GARD:0006049|OMIM:215100|DOID:0110851	mondo.json	chondrodysplasia punctata, rhizomelic form|Rcdp1|chondrodystrophia calcificans punctata|rhizomelic chondrodysplasia punctata type 1|rhizomelic chondrodysplasia punctata, type 1|PEX7 rhizomelic chondrodysplasia punctata|rhizomelic chondrodysplasia punctata caused by mutation in PEX7|RCDP1|Pbd9|peroxisome biogenesis disorder 9	http://purl.obolibrary.org/obo/MONDO_0008972	https://omim.org/entry/215100|DOID:0110851|Orphanet:309789|UMLS:C1859133	gard_rare|ordo_etiological_subtype
MONDO:0008971	biolink:Disease	chondrodysplasia calcificans Metaphysealis		GARD:0010613|MESH:C565855|UMLS:C1859147|OMIM:215050	mondo.json	chondrodysplasia calcificans Metaphysealis	http://purl.obolibrary.org/obo/MONDO_0008971	http://identifiers.org/mesh/C565855|https://omim.org/entry/215050|UMLS:C1859147	gard_rare
MONDO:0008970	biolink:Disease	chondrodysplasia Blomstrand type	Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.	Orphanet:50945|NCIT:C131420|MESH:C537914|OMIM:215045|DOID:0060387|UMLS:C1859148|GARD:0000914	mondo.json	BOCD|Blomstrand osteochondrodysplasia|Blomstrand type chondrodysplasia|chondrodysplasia, Blomstrand type|BLC|Blomstrand chondrodysplasia|Blomstrand lethal chondrodysplasia|Blomstrand lethal osteochondrodysplasia|Blomstrand's lethal chondrodysplasia	http://purl.obolibrary.org/obo/MONDO_0008970	Orphanet:50945|http://identifiers.org/mesh/C537914|NCIT:C131420|DOID:0060387|UMLS:C1859148|https://omim.org/entry/215045	ordo_malformation_syndrome|gard_rare
MONDO:0018309	biolink:Disease	Hirschsprung disease	Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.	DOID:10487|UMLS:C3661523|Orphanet:388|MedDRA:10010539|UMLS:C0019569|OMIMPS:142623|NCIT:C34700|GARD:0006660|MESH:D006627|SCTID:204739008	mondo.json	Hirschsprung's disease|pelvirectal achalasia|congenital intestinal aganglionosis|HSCR|congenital megacolon|macrocolon|Hirschsprung disease|Hirschsprung disease susceptibility|aganglionic megacolon	http://purl.obolibrary.org/obo/MONDO_0018309	UMLS:C3661523|http://identifiers.org/mesh/D006627|DOID:10487|http://identifiers.org/snomedct/204739008|https://omim.org/phenotypicSeries/PS142623|Orphanet:388|NCIT:C34700|UMLS:C0019569	ordo_disease
MONDO:0018308	biolink:Disease	liver mesenchymal hamartoma	A multicystic, tumor-like hamartomatous lesion that arises from the liver during fetal development. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Following resection, the prognosis is usually good.	SCTID:715397000|UMLS:C0334091|Orphanet:386|NCIT:C5751|UMLS:C1333971|GARD:0002651	mondo.json	MHL|hepatic mesenchymal hamartoma|Von Meyenburg complexes disease|mesenchymal hamartoma of liver|VMC|liver mesenchymal hamartoma|hepatic cystic hamartoma|liver MH|mesenchymal hamartoma of the liver|biliary hamartoma	http://purl.obolibrary.org/obo/MONDO_0018308	http://identifiers.org/snomedct/715397000|UMLS:C0334091|NCIT:C5751|UMLS:C1333971|Orphanet:386	ordo_disease|gard_rare
MONDO:0018305	biolink:Disease	chronic granulomatous disease	Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.	SCTID:387759001|UMLS:C0018203|GARD:0006100|NCIT:C26788|MedDRA:10008906|MESH:D006105|Orphanet:379|OMIMPS:306400|DOID:3265	mondo.json	granulomatous disease, chronic|CGD|chronic septic granulomatosis|Bridges-Good syndrome|Quie syndrome|congenital dysphagocytosis	http://purl.obolibrary.org/obo/MONDO_0018305	NCIT:C26788|https://omim.org/phenotypicSeries/PS306400|Orphanet:379|DOID:3265|http://identifiers.org/mesh/D006105|http://identifiers.org/snomedct/387759001|UMLS:C0018203	gard_rare|ordo_disease
MONDO:0018304	biolink:Disease	Schnitzler syndrome	A rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response.	MESH:D019873|GARD:0012390|ICD9:708.8|MedDRA:10062908|EFO:1001165|Orphanet:37748|UMLS:C0524988|DOID:4371|SCTID:402415001	mondo.json	chronic urticaria with gammapathy|chronic urticaria with gammopathy|chronic urticaria with macroglobulinemia	http://purl.obolibrary.org/obo/MONDO_0018304	DOID:4371|UMLS:C0524988|Orphanet:37748|http://identifiers.org/mesh/D019873|http://identifiers.org/snomedct/402415001	ordo_malformation_syndrome|gard_rare
MONDO:0018307	biolink:Disease	neurodegeneration with brain iron accumulation	Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.	MESH:C538421|Orphanet:385|GARD:0011899|OMIMPS:234200|DOID:0110734	mondo.json	neurodegeneration with brain iron accumulation|NBIA	http://purl.obolibrary.org/obo/MONDO_0018307	https://omim.org/phenotypicSeries/PS234200|http://identifiers.org/mesh/C538421|Orphanet:385|DOID:0110734	ordo_group_of_disorders|disease_grouping
MONDO:0018306	biolink:Disease	Griscelli syndrome	Griscelli syndrome (GS) is characterised by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3).	ICD9:270.2|GARD:0010913|ICD10CM:E70.3|SCTID:37548006|UMLS:CN204933|DOID:0060831|OMIMPS:214450|Orphanet:381	mondo.json	Griscelli-Pruni��ras syndrome|Ch��diak-Higashi-like syndrome|Chédiak-Higashi-like syndrome|Griscelli-PruniC)ras syndrome|partial albinism-immunodeficiency syndrome|Griscelli-Pruniéras syndrome|Griscelli disease|ChC)diak-Higashi-like syndrome	http://purl.obolibrary.org/obo/MONDO_0018306	DOID:0060831|http://identifiers.org/snomedct/37548006|UMLS:CN204933|https://omim.org/phenotypicSeries/PS214450|Orphanet:381	gard_rare|ordo_disease
NCBITaxon:9975	biolink:OrganismalEntity	Lagomorpha		GC_ID:1	mondo.json	rabbits & hares	http://purl.obolibrary.org/obo/NCBITaxon_9975		
MONDO:0018301	biolink:Disease	interstitial cystitis	A rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain.	MESH:D018856|UMLS:C0600040|Orphanet:37202|UMLS:C1720830|SCTID:111409009|DOID:1678|MedDRA:10011796|DOID:13949|NCIT:C27189|UMLS:C0282488|UMLS:CN204884|MedDRA:10008927|EFO:1000869|SCTID:197834003|ICD9:595.1	mondo.json	chronic interstitial cystitis|interstitial cystitis, chronic|interstitial cystitis/bladder pain syndrome|IC/BPS|bladder pain syndrome|IC/PBS|painful bladder syndrome|interstitial cystitis/painful bladder syndrome|ulcerative cystitis	http://purl.obolibrary.org/obo/MONDO_0018301	UMLS:C1720830|UMLS:CN204884|http://identifiers.org/snomedct/197834003|http://identifiers.org/snomedct/111409009|UMLS:C0282488|UMLS:C0600040|Orphanet:37202|NCIT:C27189|DOID:13949|DOID:1678|http://identifiers.org/mesh/D018856	ordo_disease
MONDO:0021943	biolink:Disease	tuberculoma	A tumor-like mass resulting from the enlargement of a tuberculous lesion.	UMLS:C0041295|MESH:D014375|SCTID:15202009	mondo.json	Tuberculomas|Tuberculoma	http://purl.obolibrary.org/obo/MONDO_0021943	http://identifiers.org/mesh/D014375|UMLS:C0041295|http://identifiers.org/snomedct/15202009	
MONDO:0018300	biolink:Disease	obsolete genetic hyperaldosteronism			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018300		
MONDO:0021944	biolink:Disease	auditory neuropathy	A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception.	UMLS:C1852271|GARD:0009274|UMLS:C2732267|NCIT:C116364|SCTID:443805006|MESH:C538268|OMIMPS:609129	mondo.json	familial auditory neuropathy|progressive auditory neuropathy|auditory dys-synchrony|auditory neuropathy|ANSD|auditory neuropathy spectrum disorder	http://purl.obolibrary.org/obo/MONDO_0021944	http://identifiers.org/mesh/C538268|http://identifiers.org/snomedct/443805006|NCIT:C116364|https://omim.org/phenotypicSeries/PS609129|UMLS:C1852271|UMLS:C2732267	gard_rare
MONDO:0018303	biolink:Disease	generalized isolated dystonia		Orphanet:376724	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018303	Orphanet:376724	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0018302	biolink:Disease	acquired kinky hair syndrome	Acquired progressive kinking of the hair (APKH) is a rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected.	UMLS:CN204889|Orphanet:37559	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018302	UMLS:CN204889|Orphanet:37559	ordo_disease
MONDO:0021945	biolink:Disease	hearing disorder	A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear.	UMLS:C0260662|NCIT:C3078|MESH:D006311|SCTID:128540005	mondo.json	auditory alteration|hearing disorder|disorder of hearing	http://purl.obolibrary.org/obo/MONDO_0021945	http://identifiers.org/mesh/D006311|http://identifiers.org/snomedct/128540005|NCIT:C3078|UMLS:C0260662	
MONDO:0021948	biolink:Disease	cutaneous tuberculosis		UMLS:C0041309|EFO:1001443|SCTID:66986005	mondo.json	Tuberculosis of skin|Tuberculosis, Cutaneous|cutaneous tuberculosis|Cutaneous Tuberculoses|Tuberculoses, Cutaneous|tuberculosis cutis|tuberculosis of skin|Cutaneous Tuberculosis|Skin Tuberculoses|tuberculoderma|Tuberculosis cutis|Tuberculoses, Skin|Cutaneous tuberculosis|Skin Tuberculosis|Tuberculoderma|Tuberculosis, Skin	http://purl.obolibrary.org/obo/MONDO_0021948	UMLS:C0041309|http://identifiers.org/snomedct/66986005	
MONDO:0006329	biolink:Disease	olfactory neuroblastoma	An olfactory neuroblastoma arising in the paranasal sinus.	EFO:1000407|ICDO:9523/3|ICDO:9522/3|ONCOTREE:ONBL|DOID:369|NCIT:C3789|SCTID:422886007	mondo.json	paranasal sinus olfactory neuroblastoma|olfactory neuroblastoma|Esthesioneuroepithelioma [dup] (morphologic abnormality)|Asthesioneuroblastoma (morphologic abnormality)|olfactory neuroepithelioma|esthesioneuroblastoma (morphologic abnormality)|esthesioneuroblastoma|Esthesioneuroepithelioma|Esthesioneuroepithelioma (morphologic abnormality)|Asthesioneuroblastoma|olfactory esthesioneuroblastoma	http://purl.obolibrary.org/obo/MONDO_0006329	NCIT:C3789|DOID:369	
MONDO:0006327	biolink:Disease	ocular sebaceous carcinoma	Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases.	EFO:1000405|UMLS:C1709308|NCIT:C43340	mondo.json	eye sebaceous carcinoma|ocular sebaceous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006327	UMLS:C1709308|NCIT:C43340	
MONDO:0006328	biolink:Disease	odontogenic cyst	A cyst in the jaw that arises from tissues of tooth development.	EFO:1000406|MESH:D009807|ICD9:526.89|Wikipedia:Odontogenic_cyst|NCIT:C54220|SCTID:235110008	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006328	NCIT:C54220|http://identifiers.org/snomedct/235110008|http://identifiers.org/mesh/D009807	
MONDO:0008989	biolink:Disease	citrulline transport defect		GARD:0009949|OMIM:215720|MESH:C536207|UMLS:C1859084	mondo.json	citrulline transport defect	http://purl.obolibrary.org/obo/MONDO_0008989	UMLS:C1859084|https://omim.org/entry/215720|http://identifiers.org/mesh/C536207	gard_rare
MONDO:0006325	biolink:Disease	ocular melanoma	A melanoma that arises from the structures of the eye or ocular adnexa.	GARD:0007236|EFO:1000403|DOID:1752|NCIT:C8562|ONCOTREE:OM	mondo.json	eyeball of camera-type eye melanoma|melanoma of the eye|melanoma of eye|ocular melanoma|OM|eye melanoma|eyeball of camera-type eye melanoma (disease)|melanoma (disease) of eyeball of camera-type eye|eye melanoma (disease)	http://purl.obolibrary.org/obo/MONDO_0006325	DOID:1752|NCIT:C8562	
MONDO:0008988	biolink:Disease	citrullinemia type I	Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I).	SCTID:398680004|Orphanet:247525|OMIM:215700|NCIT:C150601|MedDRA:10058298|DOID:0070340|GARD:0006114	mondo.json	CTNL1|citrullinemia 1|ASS deficiency|classic citrullinemia|citrullinemia type 1|Citrullinuria|citrullinemia type I|CTLN1|citrullinemia, classic|citrullinemia|argininosuccinate synthetase deficiency|argininosuccinic acid synthase deficiency|citrullinemia, type 1|argininosuccinate synthase deficiency|argininosuccinic acid synthetase deficiency	http://purl.obolibrary.org/obo/MONDO_0008988	DOID:0070340|https://omim.org/entry/215700|NCIT:C150601|http://identifiers.org/snomedct/398680004|Orphanet:247525	ordo_disease
MONDO:0033900	biolink:Disease	obsolete rare capillary malformation with associated anomalies			mondo.json		http://purl.obolibrary.org/obo/MONDO_0033900		
MONDO:0021941	biolink:Disease	infection by Trypanosoma rhodesiense	An infection with Trypanosoma brucei rhodesiense.	SCTID:42872003|NCIT:C35085|ICD9:086.4|UMLS:C0041233	mondo.json	rhodesian sleeping sickness|infection caused by trypanosoma rhodesiense|rhodesian trypanosomiasis|infection by trypanosoma rhodesiense|acute sleeping sickness	http://purl.obolibrary.org/obo/MONDO_0021941	UMLS:C0041233|http://identifiers.org/snomedct/42872003|NCIT:C35085	
MONDO:0006326	biolink:Disease	ocular melanoma with extraocular extension	A melanoma arising from and extending beyond the structures of the eye.	EFO:1000404|NCIT:C7913|UMLS:C0278869	mondo.json	ocular melanoma with extraocular extension|extraocular extension melanoma|extraocular extension of melanoma	http://purl.obolibrary.org/obo/MONDO_0006326	UMLS:C0278869|NCIT:C7913	
MONDO:0008987	biolink:Disease	obsolete cirrhosis, familial			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008987		
MONDO:0008986	biolink:Disease	circumvallate placenta syndrome		MESH:C565847|UMLS:C1859089|OMIM:215550	mondo.json	circumvallate placenta syndrome	http://purl.obolibrary.org/obo/MONDO_0008986	https://omim.org/entry/215550|http://identifiers.org/mesh/C565847|UMLS:C1859089	
MONDO:0006323	biolink:Disease	non-seminomatous lesion	A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma.	EFO:1000401	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006323		
MONDO:0006324	biolink:Disease	normal breast-like subtype of breast carcinoma	A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues.	EFO:1000402|UMLS:C3642471|NCIT:C53557	mondo.json	normal breast-like subtype of breast cancer|normal breast-like subtype of breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0006324	UMLS:C3642471|NCIT:C53557	
MONDO:0008985	biolink:Disease	ciliary dyskinesia with transposition of ciliary microtubules		OMIM:215520|MESH:C567137|GARD:0001361|UMLS:C2673817	mondo.json	ciliary dyskinesia, due to transposition of ciliary microtubules|ciliary dyskinesia with transposition of ciliary microtubules	http://purl.obolibrary.org/obo/MONDO_0008985	https://omim.org/entry/215520|http://identifiers.org/mesh/C567137|UMLS:C2673817	gard_rare
MONDO:0006321	biolink:Disease	non-functioning adrenal cortex adenoma	An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease.	UMLS:C1709240|EFO:1000399|NCIT:C48458	mondo.json	non-functioning adrenal cortical adenoma|non-functioning adrenal cortex adenoma|adrenal cortex non-functioning endocrine neoplasm|adrenal cortical incidentaloma|nonfunctional adrenal cortex adenoma|non-functioning endocrine neoplasm of adrenal cortex	http://purl.obolibrary.org/obo/MONDO_0006321	UMLS:C1709240|NCIT:C48458	
MONDO:0008984	biolink:Disease	ciliary discoordination due to random ciliary orientation		ICD9:759.89|SCTID:233667003|UMLS:C0340038|OMIM:215518|MESH:C562757|GARD:0001360	mondo.json	ciliary discoordination due to random ciliary orientation|Rutland ciliary disorientation syndrome|ciliary discoordination, due to random ciliary orientation	http://purl.obolibrary.org/obo/MONDO_0008984	https://omim.org/entry/215518|http://identifiers.org/snomedct/233667003|UMLS:C0340038|http://identifiers.org/mesh/C562757	gard_rare
NCBITaxon:9979	biolink:OrganismalEntity	Leporidae		GC_ID:1	mondo.json	rabbits and hares	http://purl.obolibrary.org/obo/NCBITaxon_9979		
MONDO:0008983	biolink:Disease	chromosomal instability with tissue-specific radiosensitivity		OMIM:215510|MESH:C565848	mondo.json	chromosomal instability with tissue-specific radiosensitivity	http://purl.obolibrary.org/obo/MONDO_0008983	https://omim.org/entry/215510|http://identifiers.org/mesh/C565848	
MONDO:0006322	biolink:Disease	non-neoplastic bile duct disorder	A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia.	UMLS:C3275160|NCIT:C35774|EFO:1000400	mondo.json	non-neoplastic bile duct disorder	http://purl.obolibrary.org/obo/MONDO_0006322	NCIT:C35774|UMLS:C3275160	
MONDO:0008982	biolink:Disease	central areolar choroidal dystrophy	A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.	SCTID:312918002|Orphanet:75377|GARD:0010049|SCTID:231996009|OMIMPS:215500|ICD9:363.54|MESH:C535358	mondo.json	choroidal dystrophy, central areolar, 1|choroidal dystrophy|CACD|CACD1|central areolar choroidal sclerosis|choroidal dystrophy central areolar|areolar atrophy of the macula	http://purl.obolibrary.org/obo/MONDO_0008982	https://omim.org/phenotypicSeries/PS215500|Orphanet:75377|http://identifiers.org/snomedct/231996009|http://identifiers.org/snomedct/312918002	ordo_disease
MONDO:0008981	biolink:Disease	infantile choroidocerebral calcification syndrome	This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities.	UMLS:C1859092|Orphanet:1313|GARD:0001313|MESH:C535357|OMIM:215480|SCTID:724228005	mondo.json	choroid plexus calcification with mental retardation|Choroido-cerebral calcification syndrome with retardation|choroid plexus calcification and mental retardation|choroid plexus calcification and intellectual disability|choroid plexus calcification with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0008981	http://identifiers.org/snomedct/724228005|Orphanet:1313|http://identifiers.org/mesh/C535357|UMLS:C1859092|https://omim.org/entry/215480	ordo_disease
MONDO:0006320	biolink:Disease	non-cutaneous melanoma	Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)	UMLS:C1334974|EFO:1000397|NCIT:C8711	mondo.json	non-cutaneous melanoma|extracutaneous melanoma	http://purl.obolibrary.org/obo/MONDO_0006320	UMLS:C1334974|NCIT:C8711	
MONDO:0008980	biolink:Disease	ataxia-hypogonadism-choroidal dystrophy syndrome	Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.	UMLS:C1859093|MESH:C565850|SCTID:715984007|OMIM:215470|DOID:0111265|Orphanet:1180|GARD:0000944	mondo.json	Boucher-Neuhauser syndrome|BNHS|spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy|Boucher-Neuhchäuser syndrome|chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism|Boucher-Neuhäuser syndrome|ataxia - hypogonadism - choroidal dystrophy	http://purl.obolibrary.org/obo/MONDO_0008980	http://identifiers.org/snomedct/715984007|Orphanet:1180|DOID:0111265|http://identifiers.org/mesh/C565850|UMLS:C1859093|https://omim.org/entry/215470	ordo_disease
GO:0045905	biolink:NamedThing	positive regulation of translational termination	Any process that activates or increases the frequency, rate or extent of translational termination.		mondo.json	activation of translational termination|stimulation of translational termination|upregulation of translational termination|up-regulation of translational termination|up regulation of translational termination	http://purl.obolibrary.org/obo/GO_0045905		
GO:0045906	biolink:NamedThing	negative regulation of vasoconstriction	Any process that stops, prevents, or reduces the frequency, rate or extent of vasoconstriction.		mondo.json	down regulation of vasoconstriction|inhibition of vasoconstriction|down-regulation of vasoconstriction|downregulation of vasoconstriction	http://purl.obolibrary.org/obo/GO_0045906		
GO:0045904	biolink:NamedThing	negative regulation of translational termination	Any process that stops, prevents, or reduces the frequency, rate or extent of translational termination.		mondo.json	down-regulation of translational termination|down regulation of translational termination|inhibition of translational termination|downregulation of translational termination	http://purl.obolibrary.org/obo/GO_0045904		
GO:0045901	biolink:NamedThing	positive regulation of translational elongation	Any process that activates or increases the frequency, rate or extent of translational elongation.		mondo.json	upregulation of translational elongation|up regulation of translational elongation|stimulation of translational elongation|activation of translational elongation|up-regulation of translational elongation	http://purl.obolibrary.org/obo/GO_0045901		
NCBITaxon:9984	biolink:OrganismalEntity	Oryctolagus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_9984		
NCBITaxon:9986	biolink:OrganismalEntity	Oryctolagus cuniculus		GC_ID:1	mondo.json	Japanese white rabbit|domestic rabbit|European rabbit|rabbit|rabbits|Lepus cuniculus	http://purl.obolibrary.org/obo/NCBITaxon_9986		
GO:0045900	biolink:NamedThing	negative regulation of translational elongation	Any process that stops, prevents, or reduces the frequency, rate or extent of translational elongation.		mondo.json	downregulation of translational elongation|down regulation of translational elongation|inhibition of translational elongation|down-regulation of translational elongation	http://purl.obolibrary.org/obo/GO_0045900		
MONDO:0021932	biolink:Disease	infection by Trypanosoma gambiense	Trypanosomiasis caused by infection by Trypanosoma brucei gambiense.	GARD:0008540|UMLS:C0041232|NCIT:C35084|SCTID:75809006|ICD9:086.3	mondo.json	Gambian trypanosomiasis|Infection caused by Trypanosoma gambiense|chronic sleeping sickness|Infection by Trypanosoma gambiense|Gambiense trypanosomiasis infection|Gambian sleeping sickness	http://purl.obolibrary.org/obo/MONDO_0021932	NCIT:C35084|UMLS:C0041232|http://identifiers.org/snomedct/75809006	gard_rare
MONDO:0021935	biolink:Disease	aspergillus niger infection	A infectious disease involving the Aspergillus niger.	MESH:C535390|GARD:0009716	mondo.json	infections, Aspergillus niger|Aspergillus niger infection|Aspergillus niger infection, pulmonary	http://purl.obolibrary.org/obo/MONDO_0021935	http://identifiers.org/mesh/C535390	gard_rare
HP:0003011	biolink:PhenotypicFeature	Abnormality of the musculature	Abnormality originating in one or more muscles, i.e., of the set of muscles of body.	UMLS:C4021745	mondo.json	Muscular abnormality	http://purl.obolibrary.org/obo/HP_0003011		
GO:0045907	biolink:NamedThing	positive regulation of vasoconstriction	Any process that activates or increases the frequency, rate or extent of vasoconstriction.		mondo.json	activation of vasoconstriction|upregulation of vasoconstriction|up regulation of vasoconstriction|stimulation of vasoconstriction|up-regulation of vasoconstriction	http://purl.obolibrary.org/obo/GO_0045907		
MONDO:0021937	biolink:Disease	obsolete Asrar Facharzt Haque syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021937		
GO:0043292	biolink:NamedThing	contractile fiber	Fibers, composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle.		mondo.json	contractile fibre	http://purl.obolibrary.org/obo/GO_0043292		
NCBITaxon:7371	biolink:OrganismalEntity	Calliphoridae		GC_ID:1	mondo.json	blow-fly|bottle flies|blowflly|blow flies|blow flly|blowflies	http://purl.obolibrary.org/obo/NCBITaxon_7371		
CHEBI:46787	biolink:ChemicalSubstance	solvent	A liquid that can dissolve other substances (solutes) without any change in their chemical composition.		mondo.json	Loesungsmittel|solvant|solvents	http://purl.obolibrary.org/obo/CHEBI_46787		
GO:0006310	biolink:NamedThing	DNA recombination	Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction.		mondo.json		http://purl.obolibrary.org/obo/GO_0006310		
NCBITaxon:7387	biolink:OrganismalEntity	Oestridae		GC_ID:1	mondo.json	botflies|bot flies|warble flies	http://purl.obolibrary.org/obo/NCBITaxon_7387		
UBERON:0005502	biolink:AnatomicalEntity	rhombomere roof plate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005502		
UBERON:0005501	biolink:AnatomicalEntity	rhombomere lateral wall			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005501		
NCBITaxon:2572478	biolink:OrganismalEntity	Oesophagostominae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2572478		
HGNC:3942	biolink:NamedThing	MTOR			mondo.json		http://identifiers.org/hgnc/3942		
UBERON:0029503	biolink:AnatomicalEntity	sacral spinal cord gray matter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0029503		
HGNC:3948	biolink:NamedThing	FRAXD			mondo.json		http://identifiers.org/hgnc/3948		
HGNC:3945	biolink:NamedThing	FRAXA			mondo.json		http://identifiers.org/hgnc/3945		
NCBITaxon:319546	biolink:OrganismalEntity	Rickettsia conorii subsp. conorii		GC_ID:11|PMID:15766388	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_319546		
HGNC:3954	biolink:NamedThing	FRG1			mondo.json		http://identifiers.org/hgnc/3954		
HGNC:3951	biolink:NamedThing	FXN			mondo.json		http://identifiers.org/hgnc/3951		
GO:0021915	biolink:NamedThing	neural tube development	The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium.		mondo.json		http://purl.obolibrary.org/obo/GO_0021915		
MONDO:0008917	biolink:Disease	heart defects-limb shortening syndrome	Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome.	SCTID:721009008|GARD:0002613|MESH:C535850|UMLS:C1859327|OMIM:212135|Orphanet:1354	mondo.json	heart defect and limb shortening syndrome|heart defects and limb shortening|cardioskeletal syndrome, KUWAITI type|cardioskeletal syndrome kuwaiti type	http://purl.obolibrary.org/obo/MONDO_0008917	https://omim.org/entry/212135|Orphanet:1354|http://identifiers.org/snomedct/721009008|http://identifiers.org/mesh/C535850|UMLS:C1859327	gard_rare|ordo_malformation_syndrome
MONDO:0008916	biolink:Disease	cardiomyopathy associated with myopathy and sudden death		MESH:C565881|OMIM:212130|UMLS:C1859328	mondo.json	cardiomyopathy associated with myopathy and sudden death	http://purl.obolibrary.org/obo/MONDO_0008916	https://omim.org/entry/212130|http://identifiers.org/mesh/C565881|UMLS:C1859328	
MONDO:0008915	biolink:Disease	dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).	SCTID:719451006|OMIM:212112|UMLS:C0796083|UMLS:C0796031|Orphanet:2229|GARD:0003373|DOID:0111584	mondo.json	cardiomyopathy with primary testicular failure|Malouf syndrome|cardiomyopathy, dilated, with premature ovarian failure|genital anomaly with cardiomyopathy|cardiomyopathy, dilated, with hypergonadotropic hypogonadism|cardiomyopathy, congestive, with hypergonadotropic hypogonadism|cardiogenital syndrome|dilated cardiomyopathy with hypergonadotropic hypogonadism|Najjar syndrome	http://purl.obolibrary.org/obo/MONDO_0008915	https://omim.org/entry/212112|DOID:0111584|http://identifiers.org/snomedct/719451006|UMLS:C0796031|UMLS:C0796083|Orphanet:2229	ordo_malformation_syndrome
MONDO:0008914	biolink:Disease	cardioauditory syndrome of Sanchez Cascos		GARD:0008519|OMIM:212100|MESH:C535577|UMLS:C1859329	mondo.json	Sanchez Cascos cardioauditory syndrome|cardioauditory syndrome of Sanchez Cascos	http://purl.obolibrary.org/obo/MONDO_0008914	https://omim.org/entry/212100|http://identifiers.org/mesh/C535577|UMLS:C1859329	gard_rare
HGNC:3959	biolink:NamedThing	FRZB			mondo.json		http://identifiers.org/hgnc/3959		
MONDO:0008913	biolink:Disease	cardiac valvular defect, developmental		MESH:C565882|OMIM:212093|UMLS:C1859330|DOID:0080633	mondo.json	CARDIAC valvular defect, developmental|CVDD|cardiac valvular defect, developmental	http://purl.obolibrary.org/obo/MONDO_0008913	https://omim.org/entry/212093|DOID:0080633|http://identifiers.org/mesh/C565882|UMLS:C1859330	
MONDO:0008912	biolink:Disease	cardiac septal defects with coarctation of the aorta		MESH:C565883|UMLS:C1859331|OMIM:212090	mondo.json	cardiac septal defects with coarctation of the aorta	http://purl.obolibrary.org/obo/MONDO_0008912	https://omim.org/entry/212090|http://identifiers.org/mesh/C565883|UMLS:C1859331	
MONDO:0008911	biolink:Disease	cardiac lipidosis, familial		MESH:C565884|UMLS:C1859332|OMIM:212080	mondo.json	cardiac lipidosis, familial	http://purl.obolibrary.org/obo/MONDO_0008911	https://omim.org/entry/212080|http://identifiers.org/mesh/C565884|UMLS:C1859332	
MONDO:0008910	biolink:Disease	carboxypeptidase N deficiency	An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity.	NCIT:C132196|SCTID:234627009|OMIM:212070|ICD9:279.8|UMLS:C0398782|MESH:C562876|DOID:0111583	mondo.json	carboxypeptidase N deficiency	http://purl.obolibrary.org/obo/MONDO_0008910	http://identifiers.org/snomedct/234627009|https://omim.org/entry/212070|NCIT:C132196|UMLS:C0398782|DOID:0111583|http://identifiers.org/mesh/C562876	
PATO:0001018	biolink:NamedThing	physical quality	A quality of a physical entity that exists through action of continuants at the physical level of organisation in relation to other entities.		mondo.json	relational physical quality	http://purl.obolibrary.org/obo/PATO_0001018		
HP:0005607	biolink:PhenotypicFeature	Abnormal tracheobronchial morphology		Fyler:4232|UMLS:C4021631	mondo.json	Tracheobronchial anomalies	http://purl.obolibrary.org/obo/HP_0005607		
CHR:9606-chr17q21.31	biolink:NamedThing	17q21.31 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr17q21.31		
OBO:ECTO_0001082	biolink:NamedThing	exposure to alcohol consumption	An exposure event involving Alcohol Consumption		mondo.json	Alcohol Consumption exposure	http://purl.obolibrary.org/obo/ECTO_0001082		
HGNC:3964	biolink:NamedThing	FSHB			mondo.json		http://identifiers.org/hgnc/3964		
HGNC:1301	biolink:NamedThing	CFAP298			mondo.json		http://identifiers.org/hgnc/1301		
MONDO:0008909	biolink:Disease	congenital disorder of glycosylation, type i/IIx		GARD:0009840|UMLS:C0349655|MESH:C562844|OMIM:212067	mondo.json	congenital disorder of glycosylation, type i/IIx|congenital disorder of glycosylation type I/IIX|CDG X|CDG-X	http://purl.obolibrary.org/obo/MONDO_0008909	http://identifiers.org/mesh/C562844|https://omim.org/entry/212067|UMLS:C0349655	gard_rare
HGNC:3960	biolink:NamedThing	FSCN2			mondo.json		http://identifiers.org/hgnc/3960		
MONDO:0008908	biolink:Disease	MGAT2-congenital disorder of glycosylation	MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).	GARD:0009828|OMIM:212066|SCTID:724142005|MESH:C535752|DOID:0070253|UMLS:C2931008|Orphanet:79329	mondo.json	CDG-IIa|carbohydrate deficient glycoprotein syndrome type IIa|carbohydrate-deficient glycoprotein syndrome, type II|CDG2A|intellectual disability, Growth retardation, prominent columella, and open mouth|CDGS2|CDG 2A|CDG IIa|congenital disorder of glycosylation type IIa|carbohydrate-deficient glycoprotein syndrome type 2|CDG syndrome type IIa|MGAT2-CDG|Alkuraya syndrome|congenital disorder of glycosylation type 2a|congenital disorder of glycosylation, type IIa|MGAT2-CDG (CDG-IIa)|N-acetylglucosaminyltransferase 2 deficiency|carbohydrate-deficient glycoprotein syndrome, type II, formerly|carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly|mental retardation, Growth retardation, prominent columella, and open mouth	http://purl.obolibrary.org/obo/MONDO_0008908	DOID:0070253|http://identifiers.org/snomedct/724142005|https://omim.org/entry/212066|Orphanet:79329|http://identifiers.org/mesh/C535752|UMLS:C2931008	ordo_disease
MONDO:0008907	biolink:Disease	PMM2-congenital disorder of glycosylation	PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.	MESH:C535739|DOID:0080552|GARD:0009826|UMLS:C0349653|OMIM:212065|SCTID:459063003|Orphanet:79318|NCIT:C126868	mondo.json	CDG 1A|CDG syndrome type Ia|congenital disorder of glycosylation type Ia|PMM2-congenital disorder of glycosylation|Jaeken syndrome|congenital disorder of glycosylation, type Ia|carbohydrate-deficient glycoprotein syndrome type 1A|carbohydrate-deficient glycoprotein syndrome type 1A (formerly)|carbohydrate-deficient glycoprotein syndrome, type Ia, formerly|CDG1A|carbohydrate-deficient glycoprotein syndrome, type Ia|PMM2-CDG (CDG-Ia)|congenital disorder of glycosylation type 1a|carbohydrate deficient glycoprotein syndrome type Ia|CDG-IA|phosphomannomutase 2 deficiency|PMM2-CDG	http://purl.obolibrary.org/obo/MONDO_0008907	https://omim.org/entry/212065|DOID:0080552|Orphanet:79318|http://identifiers.org/mesh/C535739|UMLS:C0349653|http://identifiers.org/snomedct/459063003|NCIT:C126868	ordo_disease
MONDO:0008928	biolink:Disease	cataract-ataxia-deafness syndrome	Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.	MESH:C538283|UMLS:C0796123|GARD:0001141|Orphanet:1368|OMIM:212710	mondo.json	Begeer syndrome|polyneuropathy-cataract-deafness syndrome|polyneuropathy, cataract, deafness syndrome|cataract ataxia deafness syndrome|cataract-ataxia-deafness-retardation syndrome|cataract ataxia deafness	http://purl.obolibrary.org/obo/MONDO_0008928	Orphanet:1368|https://omim.org/entry/212710|UMLS:C0796123|http://identifiers.org/mesh/C538283	ordo_disease
MONDO:0008927	biolink:Disease	colobomatous optic disc-macular atrophy-chorioretinopathy syndrome		MESH:C565876|UMLS:CN237578|OMIM:212550|Orphanet:435930|DOID:0080635|Orphanet:2542	mondo.json	ODRMD|optic DISC anomalies with retinal and/or macular dystrophy	http://purl.obolibrary.org/obo/MONDO_0008927	DOID:0080635|https://omim.org/entry/212550|UMLS:CN237578|http://identifiers.org/mesh/C565876	ordo_disease
MONDO:0008926	biolink:Disease	COFS syndrome	Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.	UMLS:C0220722|NCIT:C3817|Orphanet:1466|GARD:0006027|OMIMPS:214150	mondo.json	Pena-Shokeir syndrome type 2|cerebro-oculo-facio-skeletal syndrome|COFS|cerebrooculofacioskeletal syndrome	http://purl.obolibrary.org/obo/MONDO_0008926	Orphanet:1466|UMLS:C0220722|https://omim.org/phenotypicSeries/PS214150|NCIT:C3817	prototype_pattern|ordo_clinical_subtype|gard_rare
MONDO:0008925	biolink:Disease	cataract 46 juvenile-onset	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene.	OMIM:212500|GARD:0001150|DOID:0110243|MESH:C538286|Orphanet:98987	mondo.json	cataract 46, juvenile-onset|cataract, congenital or juvenile|LEMD2 early-onset non-syndromic cataract|cataract Hutterite type|juvenilae cataract Hutterite type|cataract, juvenile, Hutterite type|early-onset non-syndromic cataract caused by mutation in LEMD2|CTRCT46	http://purl.obolibrary.org/obo/MONDO_0008925	https://omim.org/entry/212500|DOID:0110243|http://identifiers.org/mesh/C538286	gard_rare
MONDO:0008924	biolink:Disease	congenital cataract-ichthyosis syndrome	Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive.	MESH:C538281|UMLS:C1859315|GARD:0001145|Orphanet:1376|OMIM:212400	mondo.json	Syndermotic cataract and congenital ichthyosis|cataract and congenital ichthyosis	http://purl.obolibrary.org/obo/MONDO_0008924	https://omim.org/entry/212400|UMLS:C1859315|http://identifiers.org/mesh/C538281	ordo_disease
HGNC:3969	biolink:NamedThing	FSHR			mondo.json		http://identifiers.org/hgnc/3969		
MONDO:0008923	biolink:Disease	autosomal recessive palmoplantar keratoderma and congenital alopecia	Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.	MESH:C535336|Orphanet:1366|OMIM:212360|DOID:0111245|UMLS:C1859316|GARD:0001139	mondo.json	autosomal recessive palmoplantar hyperkeratosis and congenital alopecia|cataract-alopecia-sclerodactyly syndrome|PPK-CA, Wallis type|PPKCA2|palmoplantar keratoderma and congenital alopecia 2|palmoplantar keratoderma and congenital alopecia type 2|palmoplantar keratoderma and congenital alopecia, Wallis type|cataract, alopecia, sclerodactyly syndrome|Ppkca, Wallis type|cass|cataract, alopecia, sclerodactyly	http://purl.obolibrary.org/obo/MONDO_0008923	https://omim.org/entry/212360|DOID:0111245|http://identifiers.org/mesh/C535336|UMLS:C1859316|Orphanet:1366	gard_rare|ordo_disease
MONDO:0008922	biolink:Disease	Sengers syndrome	Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.	MESH:C538280|Orphanet:1369|DOID:0080132|OMIM:212350|GARD:0001142|UMLS:C1859317|SCTID:717812000	mondo.json	congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome|Sengers syndrome|mitochondrial DNA depletion syndrome 10|cardiomyopathy and cataract|cardiomyopathic mitochondrial DNA depletion syndrome 10|cataract and cardiomyopathy|mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type)	http://purl.obolibrary.org/obo/MONDO_0008922	https://omim.org/entry/212350|UMLS:C1859317|http://identifiers.org/snomedct/717812000|http://identifiers.org/mesh/C538280|DOID:0080132|Orphanet:1369	gard_rare|ordo_disease
HGNC:1304	biolink:NamedThing	MRAP			mondo.json		http://identifiers.org/hgnc/1304		
MONDO:0008921	biolink:Disease	carnosinemia	Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.	NCIT:C125661|SCTID:410052008|UMLS:C3495555|GARD:0006001|Orphanet:1361|OMIM:212200	mondo.json	carnosinemia|Carnosinase deficiency|homocarnosinosis	http://purl.obolibrary.org/obo/MONDO_0008921	http://identifiers.org/snomedct/410052008|NCIT:C125661|Orphanet:1361|https://omim.org/entry/212200|UMLS:C3495555	ordo_disease
MONDO:0008920	biolink:Disease	carnitine deficiency, myopathic		UMLS:C1859318|OMIM:212160|MESH:C536100|GARD:0006616	mondo.json	myopathic carnitine deficiency|carnitine deficiency, myopathic	http://purl.obolibrary.org/obo/MONDO_0008920	UMLS:C1859318|https://omim.org/entry/212160|http://identifiers.org/mesh/C536100	gard_rare
PATO:0001025	biolink:NamedThing	pressure	A physical quality that inheres in a bearer by virtue of the bearer's amount of force per unit area it exerts.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001025		
HGNC:3976	biolink:NamedThing	FTH1			mondo.json		http://identifiers.org/hgnc/3976		
HGNC:3974	biolink:NamedThing	FTCD			mondo.json		http://identifiers.org/hgnc/3974		
MONDO:0008919	biolink:Disease	systemic primary carnitine deficiency disease	Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.	DOID:14365|OMIM:212140|NCIT:C98864|UMLS:C0342788|SCTID:21764004|GARD:0005104|MESH:C536778|Orphanet:158|ICD9:277.82|ICD9:277.81	mondo.json	Carnitine plasma-membrane transporter deficiency|Carnitine uptake defect|Carnitine uptake deficiency|cud|CARNITINE deficiency, systemic primary|Carnitine deficiency|deficiency of plasma-membrane carnitine transporter|Carnitine transporter defect|carnitine uptake defect|systemic Carnitine deficiency|systemic primary carnitine deficiency|systemic primary carnitine deficiency disease|carnitine transporter deficiency|renal carnitine transport defect|Carnitine transporter, plasma-Membrane, deficiency of|primary carnitine deficiency|Carnitine deficiency, systemic, due to defect in renal reabsorption of Carnitine|Carnitine deficiency, primary|CDSP|Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine|SPCD	http://purl.obolibrary.org/obo/MONDO_0008919	http://identifiers.org/snomedct/21764004|Orphanet:158|https://omim.org/entry/212140|DOID:14365|http://identifiers.org/mesh/C536778|UMLS:C0342788|NCIT:C98864	ordo_disease
MONDO:0008918	biolink:Disease	carnitine-acylcarnitine translocase deficiency	Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.	OMIM:212138|SCTID:238003000|Orphanet:159|NCIT:C133086|GARD:0001123|UMLS:C0342791|MESH:C562812|DOID:0111585	mondo.json	CACTD|CARNITINE-acylcarnitine translocase deficiency|Cact deficiency|carnitine-acylcarnitine translocase deficiency|CACT deficiency	http://purl.obolibrary.org/obo/MONDO_0008918	http://identifiers.org/snomedct/238003000|NCIT:C133086|https://omim.org/entry/212138|Orphanet:159|DOID:0111585|UMLS:C0342791|http://identifiers.org/mesh/C562812	gard_rare|ordo_disease
HGNC:1318	biolink:NamedThing	C3			mondo.json		http://identifiers.org/hgnc/1318		
PATO:0001031	biolink:NamedThing	elasticity	A physical quality inhering in a bearer by virtue of the bearer's disposition to recover its size and shape after deformation in any way.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001031		
HGNC:1324	biolink:NamedThing	C4B			mondo.json		http://identifiers.org/hgnc/1324		
HGNC:1323	biolink:NamedThing	C4A			mondo.json		http://identifiers.org/hgnc/1323		
HGNC:1321	biolink:NamedThing	TIMMDC1			mondo.json		http://identifiers.org/hgnc/1321		
MONDO:0008906	biolink:Disease	obsolete carbimazole sensitivity		OMIM:212060	mondo.json	carbimazole sensitivity	http://purl.obolibrary.org/obo/MONDO_0008906	https://omim.org/entry/212060	
MONDO:0008905	biolink:Disease	predisposition to invasive fungal disease due to CARD9 deficiency		UMLS:C1859353|GARD:0001077|OMIM:212050|Orphanet:457088	mondo.json	CANDF2|candidiasis, familial, 2, autosomal recessive|candidiasis, familial, type 2|candidiasis, familial, 2|CARD9 deficiency|CARD9 immunodeficiency|candidiasis, familial chronic mucocutaneous, autosomal recessive|invasive candidiasis-deep dermatophytosis syndrome|candidiasis familial chronic mucocutaneous, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0008905	https://omim.org/entry/212050|Orphanet:457088|UMLS:C1859353	ordo_disease
MONDO:0008904	biolink:Disease	camptomelic syndrome, long-limb type		GARD:0001071|MESH:C537977|UMLS:C1859354|OMIM:211990	mondo.json	campomelic syndrome long limb type|campomelic syndrome, long-limb type|Camptomelic syndrome long limb type|camptomelic syndrome, long-limb type	http://purl.obolibrary.org/obo/MONDO_0008904	http://identifiers.org/mesh/C537977|https://omim.org/entry/211990|UMLS:C1859354	gard_rare
MONDO:0008903	biolink:Disease	lung cancer	A malignant neoplasm involving the lung.	ICD9:162.9|ICD9:162.5|DOID:1324|ICD9:162.4|ICD9:162.8|ICD9:162.3|NCIT:C7377|SCTID:363358000|OMIM:211980	mondo.json	malignant tumor of the lung|nonsmall cell lung cancer, somatic|cancer of lung|lung cancer, susceptibility to, autosomal dominant, somatic mutation|adenocarcinoma of lung, somatic|malignant neoplasm of lung|lung cancer, protection against|lung cancer, protection against, autosomal dominant, somatic mutation|lung cancer|alveolar cell carcinoma|malignant neoplasm of the lung|malignant lung tumor|adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation|nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation|Nonsmall cell lung cancer|malignant lung neoplasm|lung cancer, somatic|nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation|lung neoplasm|malignant tumor of lung|lung cancer, resistance to, autosomal dominant, somatic mutation	http://purl.obolibrary.org/obo/MONDO_0008903	http://identifiers.org/snomedct/363358000|NCIT:C7377|https://omim.org/entry/211980|DOID:1324	
MONDO:0008902	biolink:Disease	camptodactyly-ichthyosis syndrome		GARD:0010134|MESH:C537976|UMLS:C1859355|OMIM:211965	mondo.json	camptodactyly ichthyosis syndrome|camptodactyly-ichthyosis syndrome	http://purl.obolibrary.org/obo/MONDO_0008902	http://identifiers.org/mesh/C537976|https://omim.org/entry/211965|UMLS:C1859355	gard_rare
MONDO:0008901	biolink:Disease	Tel Hashomer camptodactyly syndrome	Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.	OMIM:211960|MESH:C536953|GARD:0005128|Orphanet:3292|UMLS:C1859356|SCTID:719946008	mondo.json	Tel Hashomer camptodactyly syndrome|camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases	http://purl.obolibrary.org/obo/MONDO_0008901	http://identifiers.org/mesh/C536953|https://omim.org/entry/211960|UMLS:C1859356|http://identifiers.org/snomedct/719946008|Orphanet:3292	gard_rare|ordo_malformation_syndrome
MONDO:0008900	biolink:Disease	camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia	Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972.	OMIM:211930|Orphanet:1321|GARD:0001064|MESH:C537974	mondo.json	camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia|camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia	http://purl.obolibrary.org/obo/MONDO_0008900	Orphanet:1321|http://identifiers.org/mesh/C537974|https://omim.org/entry/211930	ordo_malformation_syndrome
CHEBI:46723	biolink:ChemicalSubstance	phosphate mineral			mondo.json	phosphate minerals	http://purl.obolibrary.org/obo/CHEBI_46723		
CHEBI:46725	biolink:ChemicalSubstance	oxide mineral			mondo.json	oxide minerals	http://purl.obolibrary.org/obo/CHEBI_46725		
HGNC:1331	biolink:NamedThing	C5			mondo.json		http://identifiers.org/hgnc/1331		
HGNC:1330	biolink:NamedThing	MYOZ2			mondo.json		http://identifiers.org/hgnc/1330		
MONDO:0043162	biolink:Disease	pagon stephan syndrome		MESH:C538100|GARD:0004195|UMLS:C2931733	mondo.json	septo-optic dysplasia with digital anomalies	http://purl.obolibrary.org/obo/MONDO_0043162	UMLS:C2931733|http://identifiers.org/mesh/C538100	gard_rare
MONDO:0043168	biolink:Disease	panostotic fibrous dysplasia		OMIM:174800|MESH:C537164|UMLS:C2931430|GARD:0004213	mondo.json	unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia	http://purl.obolibrary.org/obo/MONDO_0043168	UMLS:C2931430|http://identifiers.org/mesh/C537164	gard_rare
MONDO:0043164	biolink:Disease	palmer pagon syndrome		Orphanet:2184|UMLS:C2931734|MESH:C538107|GARD:0004199	mondo.json	hydrocephaly - low insertion umbilicus|familial hydrocephalus with a low-insertion umbilicus	http://purl.obolibrary.org/obo/MONDO_0043164	UMLS:C2931734|Orphanet:2184|http://identifiers.org/mesh/C538107	gard_rare
MONDO:0043166	biolink:Disease	pancreatic lipomatosis duodenal stenosis		MESH:C535839|GARD:0004208|UMLS:C2931040	mondo.json	pancreatic lipomatosis and duodenal atresia	http://purl.obolibrary.org/obo/MONDO_0043166	http://identifiers.org/mesh/C535839|UMLS:C2931040	gard_rare
OBI:0000659	biolink:NamedThing	specimen collection process	A planned process with the objective of collecting a specimen.		mondo.json		http://purl.obolibrary.org/obo/OBI_0000659		
NCBITaxon:1678141	biolink:OrganismalEntity	Orthohepevirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1678141		
GO:0043457	biolink:NamedThing	regulation of cellular respiration	Any process that modulates the frequency, rate or extent of cellular respiration, the enzymatic release of energy from organic compounds.		mondo.json		http://purl.obolibrary.org/obo/GO_0043457		
NCBITaxon:1678143	biolink:OrganismalEntity	Paslahepevirus balayani		GC_ID:1	mondo.json	Orthohepevirus A|Hepatitis E virus|Hepatitis E virus HEV|HEV	http://purl.obolibrary.org/obo/NCBITaxon_1678143		
CL:0005012	biolink:Cell	multi-ciliated epithelial cell	A ciliated epithelial cell with many cilium.		mondo.json	multiciliated cell|multiciliated epithelial cell|MCC|multi-ciliated cell	http://purl.obolibrary.org/obo/CL_0005012		
MONDO:0043172	biolink:Disease	pfeiffer rockelein syndrome		GARD:0004306|UMLS:C2931656|MESH:C537890	mondo.json	asymmetrical coronal synostosis, cutaneous syndactyly of fingers and toes, and jejunal atresia	http://purl.obolibrary.org/obo/MONDO_0043172	http://identifiers.org/mesh/C537890|UMLS:C2931656	gard_rare
MONDO:0018194	biolink:Disease	obsolete sex cord-stromal tumor of testis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018194		
MONDO:0018193	biolink:Disease	testicular teratoma		NCIT:C3877|Orphanet:363483|HP:0100616|EFO:1000573	mondo.json	teratoma of the testis|teratoma of testis|testicular teratoma|testicular teratoma (disease)	http://purl.obolibrary.org/obo/MONDO_0018193	NCIT:C3877|Orphanet:363483	ordo_disease
MONDO:0043174	biolink:Disease	Pfeiffer Tietze Welte syndrome		GARD:0004308|UMLS:C2931657|MESH:C537891	mondo.json	sagittal craniostenosis, bilateral coloboma of the iris, craniofacial dysmorphy, asymmetrical split hand malformation, bilateral syndactyly of 2nd-4th	http://purl.obolibrary.org/obo/MONDO_0043174	http://identifiers.org/mesh/C537891|UMLS:C2931657	gard_rare
MONDO:0018196	biolink:Disease	obsolete germ cell tumor of testis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018196		
CHR:9606-chr3p25.3	biolink:NamedThing	3p25.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr3p25.3		
MONDO:0018195	biolink:Disease	obsolete non-seminomatous germ cell tumor of testis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018195		
MONDO:0018190	biolink:Disease	autosomal dominant childhood-onset proximal spinal muscular atrophy		UMLS:CN227282|Orphanet:363447|OMIMPS:158600	mondo.json	spinal muscular atrophy, lower extremity-predominant|SMALED|lower extremity-predominant autosomal dominant proximal spinal muscular atrophy	http://purl.obolibrary.org/obo/MONDO_0018190	UMLS:CN227282|Orphanet:363447|https://omim.org/phenotypicSeries/PS158600	ordo_disease
MONDO:0043170	biolink:Disease	Pavone Fiumara Rizzo syndrome		UMLS:C2931172|MESH:C536313|GARD:0004262	mondo.json	syndactyly type 1 with cataracts and intellectual disability|syndactyly type 1 with cataracts and mental retardation|Pavone Fiumara Rizzo syndrome	http://purl.obolibrary.org/obo/MONDO_0043170	http://identifiers.org/mesh/C536313|UMLS:C2931172	gard_rare
MONDO:0018192	biolink:Disease	paratesticular adenocarcinoma		Orphanet:363478	mondo.json	adenocarcinoma of paratestis|adenocarcinoma of the paratestis	http://purl.obolibrary.org/obo/MONDO_0018192	Orphanet:363478	ordo_disease
MONDO:0018191	biolink:Disease	tumor of testis and paratestis		Orphanet:363472|UMLS:CN204698	mondo.json	testicular and paratesticular tumor	http://purl.obolibrary.org/obo/MONDO_0018191	UMLS:CN204698|Orphanet:363472	ordo_group_of_disorders|disease_grouping
MONDO:0043179	biolink:Disease	piepkorn karp hickok syndrome		UMLS:C2931016|MESH:C535774|GARD:0004345	mondo.json	short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect	http://purl.obolibrary.org/obo/MONDO_0043179	http://identifiers.org/mesh/C535774|UMLS:C2931016	gard_rare
GO:0043467	biolink:NamedThing	regulation of generation of precursor metabolites and energy	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and the processes involved in the liberation of energy from these substances.		mondo.json		http://purl.obolibrary.org/obo/GO_0043467		
MONDO:0043176	biolink:Disease	phosphoribosylpyrophosphate synthetase deficiency		UMLS:C1291401|SCTID:124343001|GARD:0004337|MESH:C535995|MESH:C537897|UMLS:C2931079|HGNC:9462|GARD:0001690	mondo.json	deafness hyperuricemia neurologic ataxia|PRPP synthetase deficiency	http://purl.obolibrary.org/obo/MONDO_0043176	http://identifiers.org/snomedct/124343001|http://identifiers.org/mesh/C537897|http://identifiers.org/mesh/C535995|UMLS:C2931079|UMLS:C1291401	gard_rare
GO:0043462	biolink:NamedThing	regulation of ATP-dependent activity	Any process that modulates the rate of an ATP-dependent activity.		mondo.json	regulation of ATPase activity|regulation of adenosinetriphosphatase activity	http://purl.obolibrary.org/obo/GO_0043462		
CL:0005026	biolink:Cell	hepatoblast	Multi fate stem cell that gives rise to both hepatocytes and cholangiocytes as descendants.		mondo.json		http://purl.obolibrary.org/obo/CL_0005026		
CL:0005020	biolink:Cell	lymphangioblast	Lymphatic progenitor cells.		mondo.json		http://purl.obolibrary.org/obo/CL_0005020		
MONDO:0018198	biolink:Disease	acute encephalopathy with biphasic seizures and late reduced diffusion	Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy.	SCTID:766044005|Orphanet:363549	mondo.json	AIEF|AESD|acute infantile encephalopathy predominantly affecting the frontal lobes	http://purl.obolibrary.org/obo/MONDO_0018198	http://identifiers.org/snomedct/766044005|Orphanet:363549	ordo_disease
CL:0005024	biolink:Cell	somatomotor neuron	A motor neuron that innervates a skeletal muscle.  These motor neurons are all excitatory and cholinergic.		mondo.json	somatic motor neuron	http://purl.obolibrary.org/obo/CL_0005024		
MONDO:0031199	biolink:Disease	inherited interstitial lung disease		OMIMPS:619611	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031199	https://omim.org/phenotypicSeries/PS619611	
MONDO:0018197	biolink:Disease	mitochondrial DNA depletion syndrome, hepatocerebrorenal form		UMLS:CN204706|Orphanet:363534	mondo.json	mtDNA depletion syndrome, hepatocerebrorenal form	http://purl.obolibrary.org/obo/MONDO_0018197	UMLS:CN204706|Orphanet:363534	ordo_disease
CL:0005022	biolink:Cell	vascular lymphangioblast	Lymphatic progenitor cells, derived from the veins, that give rise to lymphatic endothelial cells.		mondo.json	parachordal lymphangioblast	http://purl.obolibrary.org/obo/CL_0005022		
MONDO:0018199	biolink:Disease	new-onset refractory status epilepticus	New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.	GARD:0012244|Orphanet:363558	mondo.json	New onset refractory status epilepticus|Norse|De novo cryptogenic refractory multifocal febrile status epilepticus	http://purl.obolibrary.org/obo/MONDO_0018199	Orphanet:363558	ordo_disease
MONDO:0018183	biolink:Disease	staphylococcal necrotizing pneumonia	Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated.	SCTID:763888005|Orphanet:36238	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018183	http://identifiers.org/snomedct/763888005|Orphanet:36238	ordo_disease
MONDO:0043183	biolink:Disease	podder-tolmie syndrome		MESH:C537518|GARD:0004387|UMLS:C2931519	mondo.json	meningoencephalocele, arthrogryposis and hypoplastic thumbs	http://purl.obolibrary.org/obo/MONDO_0043183	http://identifiers.org/mesh/C537518|UMLS:C2931519	gard_rare
MONDO:0018182	biolink:Disease	bullous impetigo	Bullous impetigo is a contagious superficial infection occurring in intact skin. Prevalence in the general population is unknown. The disease is characterized by fragile vesicles and flaccid blisters, most often presenting as erosive lesions covered by a yellow crust. The face, trunk and extremities of children under 5 years of age (particularly neonates) are mainly affected. The disease is generally caused by group II Staphylococcus aureus.	SCTID:399183005|Orphanet:36237|MedDRA:10006563|ICD10CM:L01.03|UMLS:C0021100	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018182	Orphanet:36237|UMLS:C0021100|http://purl.bioontology.org/ontology/ICD10CM/L01.03|http://identifiers.org/snomedct/399183005	ordo_disease
MONDO:0043185	biolink:Disease	pointer syndrome		UMLS:C0796118|MESH:C536323|GARD:0004395	mondo.json	skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties	http://purl.obolibrary.org/obo/MONDO_0043185	http://identifiers.org/mesh/C536323|UMLS:C0796118	gard_rare
HGNC:18294	biolink:NamedThing	ALG1			mondo.json		http://identifiers.org/hgnc/18294		
MONDO:0018185	biolink:Disease	congenital anomaly of the great veins		Orphanet:363189	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018185	Orphanet:363189	disease_grouping|ordo_group_of_disorders
GO:0043470	biolink:NamedThing	regulation of carbohydrate catabolic process	Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of carbohydrates.		mondo.json		http://purl.obolibrary.org/obo/GO_0043470		
MONDO:0018184	biolink:Disease	gastric linitis plastica	Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma.	UMLS:CN204677|SCTID:721629005|Orphanet:36273	mondo.json	linitis plastica of the stomach|Borrmann gastric cancer type 4	http://purl.obolibrary.org/obo/MONDO_0018184	http://identifiers.org/snomedct/721629005|Orphanet:36273|UMLS:CN204677	ordo_clinical_situation
HGNC:18292	biolink:NamedThing	CFC1			mondo.json		http://identifiers.org/hgnc/18292		
MONDO:0018181	biolink:Disease	staphylococcal scalded skin syndrome	A blistering skin disorder caused by exfoliative toxins produced by Staphylococcus aureus infection. The toxins cause the formation of bullae and diffuse skin desquamation. The lesions may be localized or generalized, far away from the initial site of infection.	DOID:9063|SCTID:200946001|MESH:D013206|UMLS:C0038165|NCIT:C85077|Orphanet:36236|UMLS:C0678185|EFO:0007473|SCTID:277475006|ICD10CM:L00|ICD9:695.81|MedDRA:10041929	mondo.json	Ritter disease|toxic epidermal necrolysis, subcorneal type|Ritter's disease|SSSS|scalded skin syndrome|generalized exfoliative disease|dermatitis exfoliativa neonatorum|pemphigus neonatorum|staphylococcal scalded skin syndrome	http://purl.obolibrary.org/obo/MONDO_0018181	NCIT:C85077|http://purl.bioontology.org/ontology/ICD10CM/L00|http://identifiers.org/snomedct/277475006|DOID:9063|Orphanet:36236|UMLS:C0678185|http://identifiers.org/snomedct/200946001|http://identifiers.org/mesh/D013206|UMLS:C0038165	ordo_disease
MONDO:0043181	biolink:Disease	obsolete Refsum disease with increased pipecolic acidemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0043181		
MONDO:0018180	biolink:Disease	staphylococcal scarlet fever		ICD10CM:A38|UMLS:CN204670|Orphanet:36235	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018180	Orphanet:36235|UMLS:CN204670	ordo_disease
OBI:0000684	biolink:NamedThing	specimen collection objective	A objective specification to obtain a material entity for potential use as an input during an investigation.		mondo.json		http://purl.obolibrary.org/obo/OBI_0000684		
GO:0006487	biolink:NamedThing	protein N-linked glycosylation	A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan.		mondo.json	N-glycan biosynthesis|protein amino acid N-linked glycosylation|N-glycan metabolism	http://purl.obolibrary.org/obo/GO_0006487		
GO:0006486	biolink:NamedThing	protein glycosylation	A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.		mondo.json	protein amino acid glycosylation|protein-carbohydrate complex assembly	http://purl.obolibrary.org/obo/GO_0006486		
MONDO:0043187	biolink:Disease	pulmonary artery agenesis		GARD:0004585|SCTID:86252004	mondo.json	agenesis of pulmonary artery|pulmonary artery agenesis|pulmonary artery absent|congenital absence of pulmonary artery	http://purl.obolibrary.org/obo/MONDO_0043187	http://identifiers.org/snomedct/86252004	gard_rare
MONDO:0006198	biolink:Disease	endometrial squamous cell carcinoma	A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells.	NCIT:C8719|DOID:5533|EFO:1000240|UMLS:C1333396	mondo.json	endometrium squamous cell carcinoma|squamous cell carcinoma of the endometrium|squamous cell carcinoma of endometrium|endometrial squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006198	DOID:5533|NCIT:C8719|UMLS:C1333396	
MONDO:0006199	biolink:Disease	endometrial undifferentiated carcinoma	A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation.	EFO:1000242|UMLS:CN201056|NCIT:C40156	mondo.json	undifferentiated endometrial carcinoma|endometrial undifferentiated carcinoma	http://purl.obolibrary.org/obo/MONDO_0006199	NCIT:C40156|UMLS:CN201056	
GO:0043471	biolink:NamedThing	regulation of cellular carbohydrate catabolic process	Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of carbohydrates, carried out by individual cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0043471		
MONDO:0006196	biolink:Disease	endometrial serous adenocarcinoma	A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor.	EFO:1000238|NCIT:C27838	mondo.json	uterine corpus serous adenocarcinoma|uterine serous carcinoma|uterine papillary serous carcinoma|endometrial serous adenocarcinoma|uterine serous adenocarcinoma|serous endometrial adenocarcinoma|uterine serous papillary adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006196	NCIT:C27838	
MONDO:0006197	biolink:Disease	endometrial small cell carcinoma	A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically.	DOID:7139|UMLS:C1516858|EFO:1000239|NCIT:C40155	mondo.json	endometrium small cell carcinoma|endometrial small cell carcinoma|small cell carcinoma of endometrium	http://purl.obolibrary.org/obo/MONDO_0006197	DOID:7139|NCIT:C40155|UMLS:C1516858	
GO:0043473	biolink:NamedThing	pigmentation	The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0043473		
MONDO:0006194	biolink:Disease	obsolete endometrial mucinous adenocarcinoma	OBSOLETE. A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0006194		
MONDO:0006195	biolink:Disease	endometrial polyp	A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported.	NCIT:C6433|EFO:1000237	mondo.json	polyp, endometrial stromal, benign|endometrium polyp|endometrial polyp|polyp of the endometrium|polyp of endometrium|endometrial stromal polyp	http://purl.obolibrary.org/obo/MONDO_0006195	NCIT:C6433	
MONDO:0006192	biolink:Disease	endometrial endometrioid adenocarcinoma	A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma.	ONCOTREE:UEC|UMLS:C1336905|NCIT:C6287|EFO:1000233	mondo.json	endometrioid adenocarcinoma of the endometrium|endometrioid adenocarcinoma of endometrium|endometrial endometrioid adenocarcinoma|endometrioid endomet. adenocar.|endometrioid endometrial adenocarcinoma|uterine corpus endometrioid carcinoma|endometrioid carcinoma of the endometrium|uterine corpus endometrioid adenocarcinoma|endometrioid carcinoma of endometrium|uterine endometrioid carcinoma	http://purl.obolibrary.org/obo/MONDO_0006192	NCIT:C6287|UMLS:C1336905	
MONDO:0006193	biolink:Disease	endometrial hyperplasia without atypia	Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia.	NCIT:C40157|ICD9:621.34|SCTID:134031000119108|EFO:1000234	mondo.json	typical endometrial hyperplasia	http://purl.obolibrary.org/obo/MONDO_0006193	http://identifiers.org/snomedct/134031000119108|NCIT:C40157	
MONDO:0006190	biolink:Disease	endolymphatic sac tumor	An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor.	SCTID:699817008|EFO:1000230|GARD:0009270|ICDO:8260/1|HP:0030393|NCIT:C67560|UMLS:C2348239|ICD9:212.0	mondo.json	endolymphatic sac tumor (disease)|endolymphatic sac neoplasm (disease)|neoplasm of endolymphatic sac|ELST|aggressive papillary tumor of the temporal bone|endolymphatic sac neoplasm|tumor of endolymphatic sac|endolymphatic sac tumor	http://purl.obolibrary.org/obo/MONDO_0006190	UMLS:C2348239|NCIT:C67560|http://identifiers.org/snomedct/699817008	
HP:0410008	biolink:PhenotypicFeature	Abnormality of the peripheral nervous system	Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.	UMLS:C4073187	mondo.json	Abnormality of the peripheral nervous system	http://purl.obolibrary.org/obo/HP_0410008		
MONDO:0006191	biolink:Disease	endometrial clear cell adenocarcinoma	A clear cell adenocarcinoma that involves the endometrium.	EFO:1000231|DOID:5299|NCIT:C8028|UMLS:C0279765	mondo.json	clear cell carcinoma of endometrium|endometrial clear cell adenocarcinoma|clear cell carcinoma of the endometrium|endometrium clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006191	DOID:5299|UMLS:C0279765|NCIT:C8028	
MONDO:0018187	biolink:Disease	genetic syndromic Pierre Robin syndrome		UMLS:CN204685|Orphanet:363294	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018187	UMLS:CN204685|Orphanet:363294	disease_grouping|ordo_group_of_disorders
NCBITaxon:7198	biolink:OrganismalEntity	Phlebotominae		PMID:9835021|GC_ID:1	mondo.json	sandflies|sand flies	http://purl.obolibrary.org/obo/NCBITaxon_7198		
MONDO:0018186	biolink:Disease	obsolete ring chromosome	OBSOLETE. Aberrant chromosomes with no ends, i.e., circular.	Orphanet:363203	mondo.json	supernumerary circular chromosome	http://purl.obolibrary.org/obo/MONDO_0018186	Orphanet:363203	ordo_group_of_disorders|disease_grouping
NCBITaxon:7197	biolink:OrganismalEntity	Psychodidae		GC_ID:1	mondo.json	sandflies and mothflies	http://purl.obolibrary.org/obo/NCBITaxon_7197		
MONDO:0018189	biolink:Disease	autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts.	UMLS:CN204693|Orphanet:363429	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018189	Orphanet:363429|UMLS:CN204693	ordo_disease
MONDO:0018188	biolink:Disease	genetic intestinal polyposis		UMLS:C2713443|Orphanet:363314	mondo.json	familial intestinal polyposis	http://purl.obolibrary.org/obo/MONDO_0018188	Orphanet:363314|UMLS:C2713443	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0018172	biolink:Disease	malignant sex cord stromal tumor of ovary	Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis.	UMLS:C1334609|UMLS:CN204631|NCIT:C8053|Orphanet:35808	mondo.json	ovarian sex cord-stromal tumor, malignant|malignant ovarian sex cord-stromal tumor|malignant ovarian SCST|malignant ovarian Sex cord-stromal tumor|malignant Sex cord-stromal tumor of the ovary|malignant Sex cord-stromal tumor of ovary|malignant ovarian Sex cord-stromal neoplasm	http://purl.obolibrary.org/obo/MONDO_0018172	NCIT:C8053|UMLS:CN204631|Orphanet:35808|UMLS:C1334609	ordo_group_of_disorders|disease_grouping
MONDO:0018171	biolink:Disease	malignant germ cell tumor of ovary	Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen.	UMLS:C0346180|DOID:2155|NCIT:C4514|SCTID:254869000|Orphanet:35807	mondo.json	malignant germ cell neoplasm of the ovary|malignant ovarian germ cell tumor|malignant germ cell neoplasm of ovary|ovary malignant germ cell tumor|malignant ovarian germ cell neoplasm|MOGCT|ovarian germ cell cancer|malignant germ cell tumor of the ovary|malignant germ cell tumor of ovary	http://purl.obolibrary.org/obo/MONDO_0018171	DOID:2155|http://identifiers.org/snomedct/254869000|NCIT:C4514|UMLS:C0346180|Orphanet:35807	ordo_group_of_disorders|disease_grouping
MONDO:0043193	biolink:Disease	richieri-costa guion-almeida cohen syndrome		GARD:0004712|UMLS:C2930979|MESH:C535676	mondo.json	overgrowth - craniosynostosis - arthrogryposis|Richieri Costa Guion-Almeida dwarfism|acrofacial dysostosis Richieri Costa Guion-Almeida type|Richieri-costa Guion-Almeida Cohen syndrome	http://purl.obolibrary.org/obo/MONDO_0043193	http://identifiers.org/mesh/C535676|UMLS:C2930979	gard_rare
MONDO:0018174	biolink:Disease	hereditary glaucoma	Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.	Orphanet:359|GARD:0002486|UMLS:CN227278|MESH:C580055	mondo.json	glaucoma, hereditary|hereditary glaucoma (disease)	http://purl.obolibrary.org/obo/MONDO_0018174	Orphanet:359|http://identifiers.org/mesh/C580055|UMLS:CN227278	disease_grouping|gard_rare|ordo_group_of_disorders
MONDO:0043195	biolink:Disease	Rubinstein Taybi like syndrome		MESH:C535877|GARD:0004745|UMLS:C2931052|OMIM:180850	mondo.json	Broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic beaked noses	http://purl.obolibrary.org/obo/MONDO_0043195	http://identifiers.org/mesh/C535877|UMLS:C2931052	gard_rare
MONDO:0018173	biolink:Disease	acute opioid poisoning	Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication.	Orphanet:35889|UMLS:CN227277	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018173	Orphanet:35889|UMLS:CN227277	ordo_disease
MONDO:0018170	biolink:Disease	idiopathic nephrotic syndrome	Nephrotic syndrome for which no cause has been identified.	Orphanet:357502|UMLS:C3496337|NCIT:C122796	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018170	Orphanet:357502|UMLS:C3496337|NCIT:C122796	disease_grouping|ordo_group_of_disorders
MONDO:0043191	biolink:Disease	radial defect robin sequence		GARD:0004624|MESH:C536261|UMLS:C2931143	mondo.json	bilateral radial defects club foot deformity micrognathia and cleft palate|Bruce Winship syndrome|bilateral radial defects, club foot deformity, micrognathia and cleft palate|Bruce winship syndrome	http://purl.obolibrary.org/obo/MONDO_0043191	http://identifiers.org/mesh/C536261|UMLS:C2931143	gard_rare
GO:0006497	biolink:NamedThing	protein lipidation	The covalent attachment of lipid groups to an amino acid in a protein.		mondo.json	protein amino acid lipidation|lipid:protein modification	http://purl.obolibrary.org/obo/GO_0006497		
MONDO:0043197	biolink:Disease	ruvalcaba churesigaew myhre syndrome		GARD:0004747|MESH:C537190|UMLS:C2931437	mondo.json	onset of senility in the early teens, atrophic skin, hypogonadism, retinal and vascular sclerosis	http://purl.obolibrary.org/obo/MONDO_0043197	http://identifiers.org/mesh/C537190|UMLS:C2931437	gard_rare
MONDO:0043199	biolink:Disease	short limb dwarf lethal colavita kozlowski type		GARD:0004823|MESH:C537597|OMIM:166260|UMLS:C2931544	mondo.json	Colavita Kozlowski syndrome	http://purl.obolibrary.org/obo/MONDO_0043199	http://identifiers.org/mesh/C537597|UMLS:C2931544	gard_rare
GO:0006493	biolink:NamedThing	protein O-linked glycosylation	A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan.		mondo.json	protein amino acid O-linked glycosylation	http://purl.obolibrary.org/obo/GO_0006493		
GO:0043484	biolink:NamedThing	regulation of RNA splicing	Any process that modulates the frequency, rate or extent of RNA splicing, the process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA.		mondo.json		http://purl.obolibrary.org/obo/GO_0043484		
CL:0005009	biolink:Cell	renal principal cell	A cuboidal epithelial cell of the kidney which regulates sodium and potassium balance. The activity of sodium and potassium channels on the cells apical membrane is regulated by aldosterone and vasopressin. In mammals these cells are located in the renal collecting ducts.		mondo.json		http://purl.obolibrary.org/obo/CL_0005009		
MONDO:0018179	biolink:Disease	obsolete bacterial toxic-shock syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018179		
MONDO:0018176	biolink:Disease	obsolete polymicrogyria			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018176		
MONDO:0018175	biolink:Disease	combined deficiency of factor V and factor VIII	Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.	UMLS:C1856883|Orphanet:35909|SCTID:715559004	mondo.json	familial multiple coagulation factor deficiency|F5F8D|combined deficiency of factor V and factor type VIII|FV and FVIII combined deficiency	http://purl.obolibrary.org/obo/MONDO_0018175	UMLS:C1856883|Orphanet:35909|http://identifiers.org/snomedct/715559004	ordo_disease
MONDO:0018178	biolink:Disease	intestinal lymphangiectasia	Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by diarrhea; hypoproteinemia; peripheral and/or abdominal edema; and protein-losing enteropathies.	ICD9:457.1|MedDRA:10025213|GARD:0012331|Orphanet:36204|SCTID:197260007|HP:0002593	mondo.json	intestinal lymphangiectasia|intestinal lymphangiectasia (disease)	http://purl.obolibrary.org/obo/MONDO_0018178	http://identifiers.org/snomedct/197260007|Orphanet:36204	disease_grouping|ordo_group_of_disorders
CL:0005000	biolink:Cell	spinal cord interneuron	A CNS interneuron located in the spinal cord.		mondo.json		http://purl.obolibrary.org/obo/CL_0005000		
MONDO:0018177	biolink:Disease	glioblastoma	The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO)	SCTID:393563007|HP:0100843|MedDRA:10018337|OMIM:137800|DOID:3068|UMLS:CN227279|MedDRA:10018336|UMLS:C0017636|ONCOTREE:GBM|UMLS:C1621958|ICDO:9440/3|OMIM:613029|MESH:D005909|GARD:0002491|ONCOTREE:GB|NCIT:C3058|HP:0012174|Orphanet:360	mondo.json	grade IV astrocytoma|GBM|primary glioblastoma multiforme|giant cell glioblastoma (histologic variant)|gliosarcoma (histologic variant)|spongioblastoma multiforme|glioblastoma|WHO grade IV glioma|grade IV adult astrocytic tumor|GBM (glioblastoma)|glioblastoma (disease)|grade IV astrocytic neoplasm|glioblastoma multiforme|grade IV astrocytic tumor|glioblastoma multiforme (disease)	http://purl.obolibrary.org/obo/MONDO_0018177	Orphanet:360|UMLS:C1621958|DOID:3068|http://identifiers.org/snomedct/393563007|UMLS:C0017636|http://identifiers.org/mesh/D005909|NCIT:C3058|UMLS:CN227279	ordo_disease
GO:0006469	biolink:NamedThing	negative regulation of protein kinase activity	Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase activity.		mondo.json	down-regulation of protein kinase activity|down regulation of protein kinase activity|inhibition of protein kinase activity|downregulation of protein kinase activity	http://purl.obolibrary.org/obo/GO_0006469		
GO:0006468	biolink:NamedThing	protein phosphorylation	The process of introducing a phosphate group on to a protein.		mondo.json	protein amino acid phosphorylation	http://purl.obolibrary.org/obo/GO_0006468		
GO:0031424	biolink:NamedThing	keratinization	The process in which the cytoplasm of the outermost cells of the vertebrate epidermis is replaced by keratin. Keratinization occurs in the stratum corneum, feathers, hair, claws, nails, hooves, and horns.		mondo.json		http://purl.obolibrary.org/obo/GO_0031424		
MONDO:0043125	biolink:Disease	mcpherson robertson cammarano syndrome		UMLS:C2931751|GARD:0003431|MESH:C538161	mondo.json	dominantly inherited ptosis, strabismus and ectopic pupils	http://purl.obolibrary.org/obo/MONDO_0043125	UMLS:C2931751|http://identifiers.org/mesh/C538161	gard_rare
MONDO:0043127	biolink:Disease	mehta lewis patton syndrome		MESH:C536147|UMLS:C2931120|GARD:0003450	mondo.json	congenital heart disease, ptosis, hypodontia, and craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0043127	http://identifiers.org/mesh/C536147|UMLS:C2931120	gard_rare
GO:0006464	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0006464		
MONDO:0043120	biolink:Disease	male pseudohermaphroditism due to defective lh molecule		GARD:0003356|MESH:C535692|UMLS:C1835303|HGNC:6584	mondo.json		http://purl.obolibrary.org/obo/MONDO_0043120	http://identifiers.org/mesh/C535692|UMLS:C1835303	gard_rare
MONDO:0043123	biolink:Disease	massa casaer ceulemans syndrome		UMLS:C2931090|MESH:C536031|GARD:0003407	mondo.json	arthrogryposis multiplex congenita associated with lissencephaly	http://purl.obolibrary.org/obo/MONDO_0043123	UMLS:C2931090|http://identifiers.org/mesh/C536031	gard_rare
OBO:ECTO_1000000	biolink:NamedThing	exposure to environmental condition	A exposure event involving the interaction of an exposure receptor to the condition of environmental condition.		mondo.json	environmental condition exposure	http://purl.obolibrary.org/obo/ECTO_1000000		
HGNC:18276	biolink:NamedThing	SEC61A1			mondo.json		http://identifiers.org/hgnc/18276		
HGNC:18286	biolink:NamedThing	RAX2			mondo.json		http://identifiers.org/hgnc/18286		
MONDO:0043135	biolink:Disease	microcephaly microphthalmos blindness		MESH:C537541|GARD:0003629|UMLS:C2931526	mondo.json		http://purl.obolibrary.org/obo/MONDO_0043135	UMLS:C2931526|http://identifiers.org/mesh/C537541	gard_rare
MONDO:0043137	biolink:Disease	isolated microcephaly		GARD:0003630|MESH:C537542	mondo.json	nonsyndromic microcephaly|Nonsyndromal microcephaly|microcephaly, non-syndromic	http://purl.obolibrary.org/obo/MONDO_0043137	http://identifiers.org/mesh/C537542	gard_rare
MONDO:0043131	biolink:Disease	michels caskey syndrome		MESH:C537576|GARD:0003590|UMLS:C2931537	mondo.json	Mullerian aplasia with unilateral hypoplasia of the thumbs and skeletal spine deformities|Mullerian aplasia with hypoplastic thumbs	http://purl.obolibrary.org/obo/MONDO_0043131	UMLS:C2931537|http://identifiers.org/mesh/C537576	gard_rare
MONDO:0043133	biolink:Disease	microcephaly micropenis convulsions		MESH:C537540|GARD:0003628|UMLS:C2931525	mondo.json	microcephaly micropenis convulsions|microcephaly seizures genital hypoplasia|microcephaly micropenis seizures	http://purl.obolibrary.org/obo/MONDO_0043133	UMLS:C2931525|http://identifiers.org/mesh/C537540	gard_rare
MONDO:0043129	biolink:Disease	merlob grunebaum reisner syndrome		GARD:0003545|MESH:C537461|UMLS:C2931499|OMIM:174500	mondo.json	familial opposable triphalangeal thumbs associated with duplication of the big toes	http://purl.obolibrary.org/obo/MONDO_0043129	http://identifiers.org/mesh/C537461|UMLS:C2931499	gard_rare
GO:0031410	biolink:NamedThing	cytoplasmic vesicle	A vesicle found in the cytoplasm of a cell.		mondo.json	cytoplasmic, membrane-bounded vesicle|cytoplasmic membrane bounded vesicle|cytoplasmic membrane-enclosed vesicle	http://purl.obolibrary.org/obo/GO_0031410		
GO:0006449	biolink:NamedThing	regulation of translational termination	Any process that modulates the frequency, rate or extent of translational termination.		mondo.json		http://purl.obolibrary.org/obo/GO_0006449		
MONDO:0043141	biolink:Disease	microdontia hypodontia short stature		UMLS:C2931532|MESH:C537553|GARD:0003638	mondo.json	microdontia, hypodontia, short bulbous roots and root canals with strabismus, short stature, and borderline mentality	http://purl.obolibrary.org/obo/MONDO_0043141	UMLS:C2931532|http://identifiers.org/mesh/C537553	gard_rare
GO:0031406	biolink:NamedThing	carboxylic acid binding	Binding to a carboxylic acid, an organic acid containing one or more carboxyl (COOH) groups or anions (COO-).		mondo.json		http://purl.obolibrary.org/obo/GO_0031406		
OBO:ECTO_1000019	biolink:NamedThing	exposure to high pressure environment	A exposure event involving the interaction of an exposure receptor to high pressure environment.		mondo.json	high pressure environment exposure	http://purl.obolibrary.org/obo/ECTO_1000019		
GO:0006448	biolink:NamedThing	regulation of translational elongation	Any process that modulates the frequency, rate, extent or accuracy of translational elongation.		mondo.json		http://purl.obolibrary.org/obo/GO_0006448		
GO:0031401	biolink:NamedThing	positive regulation of protein modification process	Any process that activates or increases the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein.		mondo.json	up regulation of protein modification|stimulation of protein modification|up-regulation of protein modification|activation of protein modification|upregulation of protein modification	http://purl.obolibrary.org/obo/GO_0031401		
GO:0006446	biolink:NamedThing	regulation of translational initiation	Any process that modulates the frequency, rate or extent of translational initiation.		mondo.json		http://purl.obolibrary.org/obo/GO_0006446		
MONDO:0043143	biolink:Disease	microphthalmia microtia fetal akinesia		GARD:0003650|UMLS:C2931224|Orphanet:2547|MESH:C536513	mondo.json	fetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus|microphthalmia-microtia-fetal akinesia|Thomas-Jewett-Raines syndrome|Thomas Jewett Raines syndrome	http://purl.obolibrary.org/obo/MONDO_0043143	UMLS:C2931224|Orphanet:2547|http://identifiers.org/mesh/C536513	gard_rare|ordo_malformation_syndrome
MONDO:0043139	biolink:Disease	microcephaly sparse hair intellectual disability seizures		GARD:0003633|MESH:C537545|UMLS:C2931530	mondo.json		http://purl.obolibrary.org/obo/MONDO_0043139	UMLS:C2931530|http://identifiers.org/mesh/C537545	gard_rare
HP:0040195	biolink:PhenotypicFeature	Decreased head circumference	An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean.	UMLS:C0424688|SNOMEDCT_US:271611007	mondo.json	Decreased head circumference	http://purl.obolibrary.org/obo/HP_0040195		
MONDO:0031169	biolink:Disease	odontochondrodysplasia		OMIMPS:184260	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031169	https://omim.org/phenotypicSeries/PS184260	
GO:0031400	biolink:NamedThing	negative regulation of protein modification process	Any process that stops, prevents, or reduces the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein.		mondo.json	downregulation of protein modification|down regulation of protein modification|inhibition of protein modification|down-regulation of protein modification	http://purl.obolibrary.org/obo/GO_0031400		
HP:0040194	biolink:PhenotypicFeature	Increased head circumference	An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart.	UMLS:C4083076	mondo.json	Increased head circumference	http://purl.obolibrary.org/obo/HP_0040194		
HP:0410043	biolink:PhenotypicFeature	Abnormal neural tube morphology	Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord).	Fyler:4339	mondo.json		http://purl.obolibrary.org/obo/HP_0410043		
HP:0410042	biolink:PhenotypicFeature	Abnormal liver morphology	Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage.	Fyler:4447	mondo.json		http://purl.obolibrary.org/obo/HP_0410042		
MONDO:0043152	biolink:Disease	negative rheumatoid factor polyarthritis		OMIM:109100|GARD:0003931|UMLS:C2931825|MESH:C538347	mondo.json	rheumatoid factor-negative polyarthritis|rheumatoid factor negative erosive chronic polyarthritis|RF-ve CP	http://purl.obolibrary.org/obo/MONDO_0043152	UMLS:C2931825|http://identifiers.org/mesh/C538347	gard_rare
OBO:ECTO_1000007	biolink:NamedThing	exposure to high temperature environment	A exposure event involving the interaction of an exposure receptor to high temperature environment.		mondo.json	high temperature environment exposure	http://purl.obolibrary.org/obo/ECTO_1000007		
MONDO:0043154	biolink:Disease	neonatal ovarian cyst		MESH:C536396|UMLS:C2931186|GARD:0003934	mondo.json	fetal ovarian cyst	http://purl.obolibrary.org/obo/MONDO_0043154	UMLS:C2931186|http://identifiers.org/mesh/C536396	gard_rare
MONDO:0043156	biolink:Disease	nephrotic syndrome ocular anomalies		UMLS:C2931188|OMIM:609049|GARD:0003945|MESH:C536403	mondo.json	familial infantile nephrotic syndrome with ocular abnormalities|Glastre Cochat Bouvier syndrome	http://purl.obolibrary.org/obo/MONDO_0043156	UMLS:C2931188|http://identifiers.org/mesh/C536403	gard_rare
MONDO:0031178	biolink:Disease	monosomy 7 myelodysplasia and leukemia syndrome		OMIMPS:252270	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031178	https://omim.org/phenotypicSeries/PS252270	
UBERON:5103631	biolink:AnatomicalEntity	pedal digit 1 digitopodial skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_5103631		
MONDO:0006138	biolink:Disease	cervical large cell neuroendocrine carcinoma	A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli.	ONCOTREE:CENE|DOID:6659|UMLS:C1516417|EFO:1000167|NCIT:C40214	mondo.json	cervical large cell neuroendocrine carcinoma|cervical neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0006138	UMLS:C1516417|NCIT:C40214|DOID:6659	
MONDO:0006139	biolink:Disease	cervical metaplasia	Metaplastic changes in the cervical glandular or squamous epithelium.	UMLS:C0281796|EFO:1000168	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006139	UMLS:C0281796	
MONDO:0008799	biolink:Disease	anophthalmia/microphthalmia-esophageal atresia syndrome	Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.	ICD9:758.5|OMIM:206900|SCTID:698851003|GARD:0001443|Orphanet:77298	mondo.json	anophthalmia/microphthalmia-esophageal atresia syndrome|anophthalmia-esophageal-genital syndrome|MCOPS3|microphthalmia, syndromic type 3|syndromic microphthalmia, type 3|syndromic microphthalmia type 3|SOX2 anophthalmia syndrome|Aeg syndrome|microphthalmia, syndromic 3|SOX2-related eye disorders|anophthalmia clinical with associated anomalies|anophthalmia microphthalmia esophageal atresia|microphthalmia and esophageal atresia syndrome|anophthalmia esophageal genital syndrome|anophthalmia, clinical, with associated anomalies|optic nerve hypoplasia and abnormalities of the central nervous system	http://purl.obolibrary.org/obo/MONDO_0008799	https://omim.org/entry/206900|Orphanet:77298|http://identifiers.org/snomedct/698851003	ordo_malformation_syndrome
MONDO:0006136	biolink:Disease	obsolete cervical endometrioid adenocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006136		
MONDO:0008798	biolink:Disease	nonsyndromic congenital nail disorder 4	Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene.	OMIM:206800|MESH:C536377|DOID:0080082|DOID:0050643|Orphanet:94150	mondo.json	HYPONYCHIA congenita|nail disorder, nonsyndromic congenital, 4|anonychia/hyponychia congenita|anonychia congenita|RSPO4 isolated congenital anonychia|nail disorder, nonsyndromic congenital, type 4|NDNC4|nonsyndromic congenital nail disorder 4|isolated congenital anonychia caused by mutation in RSPO4|nonsyndromic congenital nail disorder type 4|anonychia congenita totalis|anonychia totalis	http://purl.obolibrary.org/obo/MONDO_0008798	Orphanet:94150|https://omim.org/entry/206800|DOID:0080082|http://identifiers.org/mesh/C536377	ordo_clinical_subtype
MONDO:0006137	biolink:Disease	cervical intraepithelial neoplasia grade 2/3	A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia.	UMLS:C2986622|EFO:1000166|NCIT:C94676	mondo.json	CIN 2/3	http://purl.obolibrary.org/obo/MONDO_0006137	UMLS:C2986622|NCIT:C94676	
MONDO:0006134	biolink:Disease	cervical adenosquamous carcinoma	An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells.	EFO:1000162|NCIT:C4519|SCTID:254888007|DOID:5636|ONCOTREE:CEAS|UMLS:C0346202	mondo.json	cervical adenosquamous cell carcinoma|cervical adenosquamous cancer|cervical adenosquamous carcinoma|adenosquamous carcinoma of cervix|uterine cervix adenosquamous cell carcinoma|adenosquamous cell carcinoma of cervix|cervix uteri adenosquamous cell carcinoma|adenosquamous cell carcinoma of the cervix|adenosquamous cell carcinoma of cervix uteri|adenosquamous cell carcinoma of the cervix uteri|cervix adenosquamous cell carcinoma|adenosquamous cell carcinoma of uterine cervix|adenosquamous cell carcinoma of the uterine cervix	http://purl.obolibrary.org/obo/MONDO_0006134	NCIT:C4519|UMLS:C0346202|http://identifiers.org/snomedct/254888007|DOID:5636	
MONDO:0008797	biolink:Disease	anodontia	Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth.	MedDRA:10002583|ICD10CM:K00.0|OMIM:206780|ICD9:520.0|GARD:0005818|SCTID:16958000|MESH:D000848|DOID:13714|Orphanet:99797	mondo.json	developmental absence of tooth|total anodontia of permanent and deciduous teeth|complete absence of teeth|absence of permanent teeth|teeth, permanent, absence of|anodontia of permanent dentition	http://purl.obolibrary.org/obo/MONDO_0008797	https://omim.org/entry/206780|http://purl.bioontology.org/ontology/ICD10CM/K00.0|http://identifiers.org/snomedct/16958000|Orphanet:99797|http://identifiers.org/mesh/D000848|DOID:13714	gard_rare|ordo_morphological_anomaly
MONDO:0008796	biolink:Disease	aniridia-renal agenesis-psychomotor retardation syndrome	Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.	GARD:0000690|Orphanet:1064|MESH:C000598722|SCTID:733116005|UMLS:C1859782|OMIM:206750	mondo.json	aniridia renal agenesis psychomotor retardation|Sommer Rathbun Battles syndrome|Sommer-Rathbun-Battles syndrome|aniridia partial with unilateral renal agenesis and psychomotor retardation|aniridia, partial, with unilateral renal agenesis and psychomotor retardation	http://purl.obolibrary.org/obo/MONDO_0008796	https://omim.org/entry/206750|http://identifiers.org/mesh/C000598722|http://identifiers.org/snomedct/733116005|UMLS:C1859782|Orphanet:1064	ordo_malformation_syndrome
MONDO:0006135	biolink:Disease	cervical clear cell adenocarcinoma	A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES).	NCIT:C6344|UMLS:C1332912|DOID:5303|EFO:1000163|ONCOTREE:CECC	mondo.json	clear cell adenocarcinoma of uterine cervix|clear cell carcinoma of the cervix|clear cell adenocarcinoma of the cervix uteri|clear cell adenocarcinoma of the uterine cervix|uterine cervix clear cell adenocarcinoma|clear cell carcinoma of cervix uteri|cervix clear cell carcinoma|clear cell carcinoma of uterine cervix|clear cell carcinoma of the cervix uteri|clear cell carcinoma of the uterine cervix|cervix clear cell adenocarcinoma|cervical clear cell carcinoma|cervix uteri clear cell adenocarcinoma|clear cell adenocarcinoma of cervix|clear cell adenocarcinoma of the cervix|uterine cervix clear cell carcinoma|cervical clear cell adenocarcinoma|clear cell carcinoma of cervix|cervix uteri clear cell carcinoma|clear cell adenocarcinoma of cervix uteri	http://purl.obolibrary.org/obo/MONDO_0006135	NCIT:C6344|DOID:5303|UMLS:C1332912	
MONDO:0008795	biolink:Disease	aniridia-cerebellar ataxia-intellectual disability syndrome	Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.	DOID:0111578|Orphanet:1065|ICD9:759.89|MESH:C536370|OMIM:206700|SCTID:253176002|UMLS:C0431401|GARD:0000013	mondo.json	aniridia, cerebellar ataxia, and intellectual disability|Gillespie syndrome|aniridia, cerebellar ataxia, and mental retardation|GLSP|aniridia, cerebellar ataxia and mental deficiency|GILLESPIE syndrome	http://purl.obolibrary.org/obo/MONDO_0008795	UMLS:C0431401|https://omim.org/entry/206700|Orphanet:1065|http://identifiers.org/mesh/C536370|http://identifiers.org/snomedct/253176002|DOID:0111578	gard_rare|ordo_malformation_syndrome
MONDO:0006132	biolink:Disease	cervical adenoid basal carcinoma	A rare low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations.	ONCOTREE:CABC|EFO:1000160|NCIT:C40213|DOID:6428|UMLS:C1516403	mondo.json	cervical adenoid basal cancer	http://purl.obolibrary.org/obo/MONDO_0006132	UMLS:C1516403|NCIT:C40213|DOID:6428	
MONDO:0008794	biolink:Disease	anhidrosis, familial generalized, with abnormal or absent sweat glands		UMLS:C4225670|OMIM:206600	mondo.json	anhidrosis, familial generalized, with abnormal or absent sweat glands	http://purl.obolibrary.org/obo/MONDO_0008794	UMLS:C4225670|https://omim.org/entry/206600	
MONDO:0006133	biolink:Disease	cervical adenoid cystic carcinoma	A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present.	ICD10CM:C53.0|EFO:1000161|ONCOTREE:CACC|DOID:4867|Orphanet:213823|NCIT:C6346|UMLS:C1332911	mondo.json	cervix uteri adenoid cystic carcinoma|adenoid cystic carcinoma of cervix|adenoid cystic carcinoma of the cervix uteri|adenoid cystic carcinoma of the cervix|adenoid cystic carcinoma of cervix uteri|adenoid cystic carcinoma of uterine cervix|adenoid cystic carcinoma of the uterine cervix|uterine cervix adenoid cystic carcinoma|cervical adenoid cystic carcinoma|cervical adenoid cystic cancer	http://purl.obolibrary.org/obo/MONDO_0006133	NCIT:C6346|UMLS:C1332911|Orphanet:213823|DOID:4867	ordo_disease
MONDO:0008793	biolink:Disease	angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert		UMLS:C1859783|OMIM:206570|GARD:0008587|MESH:C536367	mondo.json	Divry-Van Bogaert syndrome|Corticomeningeal angiomatosis, myelination of the white substance of the centrum ovale, hemianopsia and marbled skin|angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert	http://purl.obolibrary.org/obo/MONDO_0008793	UMLS:C1859783|http://identifiers.org/mesh/C536367|https://omim.org/entry/206570	gard_rare
MONDO:0006130	biolink:Disease	central nervous system neoplasm	A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia.	EFO:1000158|NCIT:C9293	mondo.json	central nervous system neoplasm (disease)|tumor of the CNS|neoplasm of central nervous system|tumor of CNS|central nervous system tumor|central nervous system neoplasm|CNS neoplasm|tumor of the central nervous system|tumor of central nervous system|neoplasm of CNS|brain/spinal cord tumor|neoplasm of the central nervous system|CNS tumor	http://purl.obolibrary.org/obo/MONDO_0006130	NCIT:C9293	
MONDO:0006131	biolink:Disease	cerebellar liponeurocytoma	A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)	ONCOTREE:CLNC|ICDO:0000/0|Orphanet:251931|EFO:1000159|GARD:0010642|UMLS:C1370507|SCTID:716592003|NCIT:C6905|DOID:6458	mondo.json	cerebellar liponeurocytoma (WHO grade II)|cerebellar liponeurocytoma|lipomatous medulloblastoma (formerly)|lipomatous medulloblastoma|CLNC	http://purl.obolibrary.org/obo/MONDO_0006131	NCIT:C6905|UMLS:C1370507|Orphanet:251931|DOID:6458|http://identifiers.org/snomedct/716592003	gard_rare|ordo_disease
MONDO:0008792	biolink:Disease	familial angiolipomatosis	Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously.	MESH:C565951|UMLS:C1859784|Orphanet:199279|OMIM:206550	mondo.json	angiolipomatosis, familial|angiolipoma Microthromboticum	http://purl.obolibrary.org/obo/MONDO_0008792	UMLS:C1859784|http://identifiers.org/mesh/C565951|https://omim.org/entry/206550|Orphanet:199279	ordo_disease
MONDO:0008791	biolink:Disease	anencephaly 1	Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.	GARD:0005808|SCTID:89369001|OMIM:206500|ICD9:740.0|Orphanet:1048	mondo.json	ANPH|absence of a large part of the brain and the skull|anencephaly|isolated anencephaly/exencephaly|anencephaly 1	http://purl.obolibrary.org/obo/MONDO_0008791	http://identifiers.org/snomedct/89369001|Orphanet:1048|https://omim.org/entry/206500	ordo_morphological_anomaly
MONDO:0008790	biolink:Disease	anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism		UMLS:C1859785|MESH:C565952|OMIM:206400	mondo.json	anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism	http://purl.obolibrary.org/obo/MONDO_0008790	UMLS:C1859785|http://identifiers.org/mesh/C565952|https://omim.org/entry/206400	
FOODON:00002044	biolink:NamedThing	mollusc food product			mondo.json	mollusk food product	http://purl.obolibrary.org/obo/FOODON_00002044		
MONDO:0018129	biolink:Disease	autosomal recessive cerebellar ataxia with late-onset spasticity	Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.	UMLS:CN204507|SCTID:763348005|Orphanet:352641	mondo.json	autosomal recessive cerebellar ataxia due to GBA2 deficiency	http://purl.obolibrary.org/obo/MONDO_0018129	UMLS:CN204507|Orphanet:352641|http://identifiers.org/snomedct/763348005	ordo_disease
MONDO:0018128	biolink:Disease	phalangeal microgeodic syndrome	Phalangeal microgeodic syndrome is a rare primary osteolysis characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure.	Orphanet:352636|UMLS:CN204506	mondo.json	phalangeal osteolysis	http://purl.obolibrary.org/obo/MONDO_0018128	UMLS:CN204506|Orphanet:352636	ordo_disease
MONDO:0018125	biolink:Disease	focal epilepsy-intellectual disability-cerebro-cerebellar malformation	Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed.	UMLS:CN204502|Orphanet:352587	mondo.json	focal epilepsy-intellectual disability-dysarthria-ataxia syndrome	http://purl.obolibrary.org/obo/MONDO_0018125	UMLS:CN204502|Orphanet:352587	ordo_disease
MONDO:0018124	biolink:Disease	Oncogenic osteomalacia	Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. This occurs when a tumor secretes a substance called fibroblast growth factor 23 (FGF23). FGF23 inhibits the ability of the kidneys to absorb phosphate. Phosphate is important for keeping bones strong and healthy. Therefore, this disease is characterized by a softening and weakening of the bones (osteomalacia). The disease also results in multiple biochemical abnormalities including high levels of phosphate in the urine (hyperphosphaturia) and low levels of phosphate in the blood (hypophosphatemia). The majority of tumors that cause oncogenic osteomalacia are small and slow-growing. These tumors most commonly occur in the skin, muscles, or bones of the extremities or in the paranasal sinuses around the head. Most of these tumors are benign, meaning they are not associated with cancer. The exact reason that the tumors associated with oncogenic osteomalacia develop is not known. The disease is diagnosed when a person experiences clinical features such as bone weakening and hyperphosphaturia and a tumor is found by imaging of the body. Treatment of the disease consists of surgical removal of the tumor. The symptoms of the disease, including the weakening of the bones, typically resolve once the tumor is removed.	SCTID:392559009|MESH:C537751|GARD:0009652|UMLS:C1274103|NCIT:C67235|Orphanet:352540	mondo.json	Oncogenic hypophosphatemic osteomalacia|TIO|tumor-induced osteomalacia|OO|OOM	http://purl.obolibrary.org/obo/MONDO_0018124	http://identifiers.org/snomedct/392559009|UMLS:C1274103|NCIT:C67235|Orphanet:352540|http://identifiers.org/mesh/C537751	gard_rare|ordo_disease
MONDO:0018127	biolink:Disease	16q24.1 microdeletion syndrome	16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).	Orphanet:352629|UMLS:CN204505	mondo.json	Del(16)(q24.1)|monosomy 16q24.1	http://purl.obolibrary.org/obo/MONDO_0018127	UMLS:CN204505|Orphanet:352629	ordo_disease
MONDO:0018126	biolink:Disease	progressive myoclonic epilepsy with dystonia	A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.	Orphanet:352596|OMIM:615338|SCTID:763349002	mondo.json	PMED|progressive myoclonus epilepsy with dystonia	http://purl.obolibrary.org/obo/MONDO_0018126	Orphanet:352596|http://identifiers.org/snomedct/763349002	ordo_disease
CHR:9606-chr9q34	biolink:NamedThing	9q34 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr9q34		
MONDO:0018121	biolink:Disease	mitochondrial DNA maintenance syndrome	An inherited metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance.	UMLS:CN204491|Orphanet:352456	mondo.json	mtDNA maintenance syndrome|inborn error of mitochondrial genome maintenance|rare inborn error of mitochondrial genome maintenance|inborn mitochondrial genome maintenance disorder	http://purl.obolibrary.org/obo/MONDO_0018121	UMLS:CN204491|Orphanet:352456	disease_grouping|ordo_group_of_disorders
HGNC:18234	biolink:NamedThing	MOCOS			mondo.json		http://identifiers.org/hgnc/18234		
HP:0003187	biolink:PhenotypicFeature	Breast hypoplasia	Underdevelopment of the breast.	SNOMEDCT_US:8915006|UMLS:C0266013	mondo.json	Underdeveloped breasts	http://purl.obolibrary.org/obo/HP_0003187		
MONDO:0018120	biolink:Disease	obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement		Orphanet:352312|UMLS:CN227267	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018120	Orphanet:352312|UMLS:CN227267	ordo_group_of_disorders
MONDO:0018123	biolink:Disease	intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.	UMLS:CN204496|Orphanet:352530	mondo.json	autosomal recessive intellectual disability due to TRAPPC9 deficiency|intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0018123	UMLS:CN204496|Orphanet:352530	ordo_disease
UBERON:5103625	biolink:AnatomicalEntity	manual digit 5 digitopodial skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_5103625		
MONDO:0018122	biolink:Disease	digital anomalies-intellectual disability-short stature syndrome		UMLS:CN204494|Orphanet:352487	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018122	UMLS:CN204494|Orphanet:352487	ordo_disease
HGNC:18233	biolink:NamedThing	BANK1			mondo.json		http://identifiers.org/hgnc/18233		
MONDO:0021761	biolink:Disease	acral dysostosis dyserythropoiesis syndrome	An erythrocytic disorder that is characterized by macrocytosis and megaloblastic changes of the bone marrow cells, with additional morphological defects of hands and feet.	GARD:0000478	mondo.json		http://purl.obolibrary.org/obo/MONDO_0021761		gard_rare
MONDO:0021762	biolink:Disease	acrocoxomesomelic dysplasia	A severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine.	GARD:0000483	mondo.json	acro-coxo-mesomelic dwarfism	http://purl.obolibrary.org/obo/MONDO_0021762		gard_rare
MONDO:0021764	biolink:Disease	acrofacial dysostosis preis type	Acrofacial dysostosis with pre-and postaxial involvement; a postaxial defect of the right, and a preaxial defect of the left hand. This is an n-of-1 use case where only one patient or family has been described with this disorder.	GARD:0000495	mondo.json		http://purl.obolibrary.org/obo/MONDO_0021764		gard_rare|n_of_one
MONDO:0006149	biolink:Disease	clear cell papillary cystadenoma	A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion.	EFO:1000181|UMLS:C1880102|ICDO:8443/0|NCIT:C65203	mondo.json	clear cell papillary cystadenoma	http://purl.obolibrary.org/obo/MONDO_0006149	UMLS:C1880102|NCIT:C65203	
MONDO:0021765	biolink:Disease	radiculitis	An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path.	UMLS:C0034544|SCTID:82473003|NCIT:C78581|ICD9:729.2	mondo.json	Nerve Root Inflammation|Radiculitis|Nerve Root Inflammations|Inflammation, Nerve Root|radiculitis|Radiculitides	http://purl.obolibrary.org/obo/MONDO_0021765	http://identifiers.org/snomedct/82473003|NCIT:C78581|UMLS:C0034544	
MONDO:0006147	biolink:Disease	obsolete chronic eosinophilic leukemia, not otherwise specified			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006147		
MONDO:0006148	biolink:Disease	obsolete chronic neutrophilic leukemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006148		
MONDO:0006145	biolink:Disease	chondroid chordoma	A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage.	UMLS:C1266173|DOID:4152|NCIT:C6902|ICDO:9371/3|EFO:1000174	mondo.json	chondroid chordoma (morphologic abnormality)|chondroid chordoma	http://purl.obolibrary.org/obo/MONDO_0006145	NCIT:C6902|UMLS:C1266173|DOID:4152	
MONDO:0006146	biolink:Disease	chondroid hamartoma	A hamartoma that is characterized by the presence of chondroid elements.	UMLS:C1707390|EFO:1000175|NCIT:C42589	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006146	NCIT:C42589|UMLS:C1707390	
MONDO:0006143	biolink:Disease	cervical squamous cell carcinoma	A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis.	ICD10CM:C53.0|SCTID:254886006|NCIT:C4028|UMLS:C0279671|DOID:3744|Orphanet:213767|ONCOTREE:CESC|EFO:1000172	mondo.json	CESC|squamous cell carcinoma of cervix uteri|squamous cell carcinoma of the cervix uteri|squamous cell carcinoma of uterine cervix|squamous cell carcinoma of the uterine cervix|squamous cervical cancer|uterine cervix squamous cell carcinoma|cervical squamous cell cancer|cervix squamous cell carcinoma|cervical squamous cell carcinoma|cervix uteri squamous cell carcinoma|squamous cell carcinoma of cervix|squamous cell carcinoma of the cervix	http://purl.obolibrary.org/obo/MONDO_0006143	NCIT:C4028|UMLS:C0279671|Orphanet:213767|DOID:3744|http://identifiers.org/snomedct/254886006	ordo_disease
MONDO:0006144	biolink:Disease	cervical Wilms tumor	An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney.	DOID:5190|UMLS:C1516437|EFO:1000173|NCIT:C40236	mondo.json	cervical Wilms' tumor|cervical Wilms tumor	http://purl.obolibrary.org/obo/MONDO_0006144	UMLS:C1516437|NCIT:C40236|DOID:5190	
MONDO:0006141	biolink:Disease	cervical villoglandular adenocarcinoma	A cervical adenocarcinoma characterized by the presence of a prominent villoglandular pattern.	EFO:1000170|UMLS:C4289808|NCIT:C40208|ONCOTREE:VGCE|DOID:8338	mondo.json	villoglandular variant cervical mucinous adenocarcinoma|cervical villoglandular adenocarcinoma|cervical adenocarcinoma, villoglandular variant|villoglandular adenocarcinoma of the cervix|cervical villoglandular carcinoma	http://purl.obolibrary.org/obo/MONDO_0006141	DOID:8338|UMLS:C4289808|NCIT:C40208	
MONDO:0006142	biolink:Disease	cervical small cell carcinoma	A small cell carcinoma arising from the cervix.	NCIT:C7982|UMLS:C0279674|ONCOTREE:SCCE|DOID:6740|EFO:1000171	mondo.json	cervix small cell carcinoma|small cell carcinoma of cervix|cervix uteri small cell carcinoma|small cell carcinoma of cervix uteri|small cell carcinoma of uterine cervix|small cell carcinoma of the uterine cervix|small cell carcinoma of the cervix|uterine cervix small cell carcinoma|Cervical small cell cancer|cervical small cell carcinoma|small cell carcinoma of the cervix uteri|SCCE	http://purl.obolibrary.org/obo/MONDO_0006142	DOID:6740|UMLS:C0279674|NCIT:C7982	
MONDO:0006140	biolink:Disease	cervical mucinous adenocarcinoma, minimal deviation variant	A rare, extremely well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands.	UMLS:C1516423|DOID:6627|EFO:1000169|NCIT:C40206	mondo.json	cervical mucinous adenocarcinoma, minimal deviation variant|cervical mucinous adenocarcinoma, minimal deviation type|cervical adenoma malignum	http://purl.obolibrary.org/obo/MONDO_0006140	UMLS:C1516423|NCIT:C40206|DOID:6627	
HGNC:33862	biolink:NamedThing	GRXCR2			mondo.json		http://identifiers.org/hgnc/33862		
MONDO:0018118	biolink:Disease	obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement		UMLS:CN227265|Orphanet:352306	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018118	Orphanet:352306|UMLS:CN227265	ordo_group_of_disorders
MONDO:0018117	biolink:Disease	disorder of phospholipids, sphingolipids and fatty acids biosynthesis		UMLS:CN227264|Orphanet:352301	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018117	Orphanet:352301|UMLS:CN227264	disease_grouping|ordo_group_of_disorders
MONDO:0018119	biolink:Disease	obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement		UMLS:CN227266|Orphanet:352309	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018119	Orphanet:352309|UMLS:CN227266	ordo_group_of_disorders
HGNC:33867	biolink:NamedThing	SDHAF1			mondo.json		http://identifiers.org/hgnc/33867		
CHR:9606-chrXq27.3-q28	biolink:NamedThing	Xq27.3-q28 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chrXq27.3-q28		
MONDO:0018114	biolink:Disease	isolated brachycephaly	Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.	Orphanet:35099	mondo.json	non-syndromic bicoronal synostosis	http://purl.obolibrary.org/obo/MONDO_0018114	Orphanet:35099	ordo_morphological_anomaly
HGNC:18249	biolink:NamedThing	KCTD1			mondo.json		http://identifiers.org/hgnc/18249		
MONDO:0018113	biolink:Disease	isolated plagiocephaly	Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.	Orphanet:35098	mondo.json	non-syndromic unicoronal synostosis|synostotic plagiocephaly	http://purl.obolibrary.org/obo/MONDO_0018113	Orphanet:35098	ordo_morphological_anomaly
MONDO:0031115	biolink:Disease	dyskinesia with orofacial involvement		OMIMPS:606703	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031115	https://omim.org/phenotypicSeries/PS606703	
UBERON:5103635	biolink:AnatomicalEntity	pedal digit 5 digitopodial skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_5103635		
MONDO:0018116	biolink:Disease	galactosemia	Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form.	SCTID:190749000|NCIT:C84723|Orphanet:352|DOID:9870|UMLS:C0016952|MESH:D005693|OMIMPS:230400|MedDRA:10017604|ICD9:271.1|GARD:0002424|SCTID:190745006	mondo.json	galactosemia|galactosaemia|galactose intolerance	http://purl.obolibrary.org/obo/MONDO_0018116	http://identifiers.org/mesh/D005693|DOID:9870|NCIT:C84723|UMLS:C0016952|https://omim.org/phenotypicSeries/PS230400|Orphanet:352|http://identifiers.org/snomedct/190745006	ordo_group_of_disorders|disease_grouping
MONDO:0018115	biolink:Disease	epidermal nevus syndrome	A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities.	SCTID:239112008|Orphanet:35125|MedDRA:10014985	mondo.json	Epidermal hamartoma syndrome	http://purl.obolibrary.org/obo/MONDO_0018115	Orphanet:35125|http://identifiers.org/snomedct/239112008	ordo_disease
MONDO:0021758	biolink:Disease	acquired agranulocytosis	Agranulocytosis that is autoimmune in origin.	GARD:0005717|MESH:C538171|SCTID:72050006	mondo.json	granulocytopenia, primary|neutropenia, malignant|agranulocytosis, acquired|agranulocytic angina	http://purl.obolibrary.org/obo/MONDO_0021758	http://identifiers.org/snomedct/72050006|http://identifiers.org/mesh/C538171	gard_rare
HGNC:18248	biolink:NamedThing	ELP2			mondo.json		http://identifiers.org/hgnc/18248		
MONDO:0018110	biolink:Disease	lethal idiopathic viral infection		UMLS:CN776879|Orphanet:35064	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018110	Orphanet:35064|UMLS:CN776879	ordo_disease
MONDO:0021759	biolink:Disease	acquired fructose intolerance	Acquired fructose intolerance is a condition in which the body can not properly absorb the sugar, fructose. As a result, affected people may experience gastrointestinal symptoms, such as gas, abdominal pain, bloating and/or diarrhea, depending on the quantity of fructose consumed and the presence of other sugars ingested with it. Gastrointestinal symptoms related to acquired fructose intolerance appear to be more common in people who have an underlying functional bowel disorder such as irritable bowel syndrome. The underlying cause of the condition is poorly understood. It is distinct from the rare, genetic form of fructose intolerance (called hereditary fructose intolerance), which usually develops earlier in life and often affects more than one family member. Acquired fructose intolerance is generally managed with dietary modifications.	SCTID:413427002|GARD:0002399	mondo.json	fructose malabsorption|dietary fructose intolerance|intestinal fructose intolerance|acquired fructose intolerance	http://purl.obolibrary.org/obo/MONDO_0021759	http://identifiers.org/snomedct/413427002	gard_rare
HP:0003198	biolink:PhenotypicFeature	Myopathy	A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.	UMLS:C0026848|SNOMEDCT_US:129565002|MSH:D009135	mondo.json	Muscle tissue disease|Myopathic changes	http://purl.obolibrary.org/obo/HP_0003198		
MONDO:0018112	biolink:Disease	isolated scaphocephaly	Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture.	OMIM:600775|Orphanet:35093	mondo.json	isolated dolichocephaly|non-syndromic sagittal synostosis	http://purl.obolibrary.org/obo/MONDO_0018112	Orphanet:35093	ordo_morphological_anomaly
HGNC:18243	biolink:NamedThing	RCBTB1			mondo.json		http://identifiers.org/hgnc/18243		
MONDO:0018111	biolink:Disease	idiopathic severe pneumococcemia		Orphanet:35065	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018111	Orphanet:35065	ordo_disease
HGNC:21862	biolink:NamedThing	DYNC2I1			mondo.json		http://identifiers.org/hgnc/21862		
MONDO:0021750	biolink:Disease	pyonephrosis	Pus within the collecting system of the kidney.	NCIT:C123032|SCTID:48631008|MESH:D053018|UMLS:C0034216	mondo.json	pyonephrosis|Hydronephrosis, Infected|Pyonephrosis|Infected Hydronephrosis	http://purl.obolibrary.org/obo/MONDO_0021750	http://identifiers.org/snomedct/48631008|http://identifiers.org/mesh/D053018|UMLS:C0034216|NCIT:C123032	
MONDO:0006118	biolink:Disease	breast fibrosis	Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma.	EFO:1000145|NCIT:C3660|ICD10CM:N60.3|UMLS:C0156318|ICD9:610.3|DOID:10353|SCTID:29070004	mondo.json	breast fibrosis|fibrosclerosis of breast|fibrosclerosis of the breast|breast fibrosclerosis|fibrosis of the breast|fibrosis of breast	http://purl.obolibrary.org/obo/MONDO_0006118	UMLS:C0156318|http://identifiers.org/snomedct/29070004|DOID:10353|http://purl.bioontology.org/ontology/ICD10CM/N60.3|NCIT:C3660	
MONDO:0006119	biolink:Disease	breast mucosa-associated lymphoid tissue lymphoma	An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor.	EFO:1000146|UMLS:C1332633|NCIT:C35688	mondo.json	breast mucosa-associated lymphoid tissue lymphoma|breast MALT lymphoma	http://purl.obolibrary.org/obo/MONDO_0006119	NCIT:C35688|UMLS:C1332633	
MONDO:0021752	biolink:Disease	Achard-Thiers syndrome	Achard–Thiers syndrome combines the features of adrenogenital syndrome and Cushing syndrome. It occurs mainly in post-menopausal women	GARD:0005709|SCTID:34041001|MESH:C536013|UMLS:C0271732	mondo.json	diabetes in bearded women|diabetic-bearded woman syndrome|Achard Thiers syndrome	http://purl.obolibrary.org/obo/MONDO_0021752	UMLS:C0271732|http://identifiers.org/mesh/C536013|http://identifiers.org/snomedct/34041001	gard_rare
HGNC:21863	biolink:NamedThing	RBM28			mondo.json		http://identifiers.org/hgnc/21863		
MONDO:0008779	biolink:Disease	arthrogryposis	A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth.	NCIT:C84572|MESH:D001176|UMLS:C0003886|EFO:0003857	mondo.json	Arthrogryposes, congenital multiple|congenital multiple Arthrogryposes|congenital multiple arthrogryposis	http://purl.obolibrary.org/obo/MONDO_0008779	NCIT:C84572|UMLS:C0003886|http://identifiers.org/mesh/D001176	
MONDO:0006116	biolink:Disease	breast carcinoma by gene expression profile	A header term that includes the following breast carcinoma subtypes determined by gene expression profiling: luminal A breast carcinoma, luminal B breast carcinoma, HER2 positive breast carcinoma, basal-like breast carcinoma, triple-negative breast carcinoma, and normal breast-like subtype of breast carcinoma.	EFO:1000143|NCIT:C53553|UMLS:C3642344	mondo.json	breast carcinoma by gene expression profile	http://purl.obolibrary.org/obo/MONDO_0006116	UMLS:C3642344|NCIT:C53553	
MONDO:0006117	biolink:Disease	breast diffuse large B-cell lymphoma	A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma.	EFO:1000144|UMLS:C1511306|NCIT:C40375	mondo.json	diffuse large B-cell lymphoma of breast|breast DLBCL|breast diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0006117	UMLS:C1511306|NCIT:C40375	
MONDO:0008778	biolink:Disease	amyloidosis, cutaneous bullous		SCTID:38606009|MESH:C562644|OMIM:204900|UMLS:C0268399|ICD9:277.39	mondo.json	amyloidosis, cutaneous bullous	http://purl.obolibrary.org/obo/MONDO_0008778	http://identifiers.org/snomedct/38606009|http://identifiers.org/mesh/C562644|UMLS:C0268399|https://omim.org/entry/204900	
MONDO:0008777	biolink:Disease	gelatinous drop-like corneal dystrophy	Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.	UMLS:C0339273|MESH:C535480|Orphanet:98957|GARD:0009647|OMIM:204870|DOID:0060449|NCIT:C142805	mondo.json	primary familial amyloidosis of the cornea|subepithelial amyloidosis of the cornea|lattice corneal dystrophy type 3|amyloidosis corneal|amyloid corneal dystrophy, Japanese type|Cdgdl|lattice corneal dystrophy, type 3|corneal dystrophy, lattice type 3|corneal dystrophy, gelatinous drop-like|amyloidosis, corneal|CDGDL|corneal amyloidosis|GDCD|gelatinous drop-like corneal dystrophy|GDLD	http://purl.obolibrary.org/obo/MONDO_0008777	Orphanet:98957|http://identifiers.org/mesh/C535480|DOID:0060449|NCIT:C142805|https://omim.org/entry/204870|UMLS:C0339273	gard_rare|ordo_disease
MONDO:0043103	biolink:Disease	hypothyroidism due to iodide transport defect	A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition.	SCTID:22558005|NCIT:C121747|GARD:0002938|UMLS:C0271826	mondo.json	iodine transport defect|hypothyroidism due to iodide transport defect|iodide transport defect|iodide Transport defect|iodide transport failure|iodine accumulation defect|hypothyroidism due to iodide concentration defect	http://purl.obolibrary.org/obo/MONDO_0043103	UMLS:C0271826|NCIT:C121747|http://identifiers.org/snomedct/22558005	gard_rare
MONDO:0006114	biolink:Disease	obsolete bladder squamous cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006114		
MONDO:0008776	biolink:Disease	amyloidosis of gingiva and conjunctiva, with intellectual disability		OMIM:204850|MESH:C565958|GARD:0000657|UMLS:C1859815	mondo.json	amyloidosis of gingiva and conjunctiva with mental retardation|Hornova Dlushosova syndrome|amyloidosis of gingiva and conjunctiva with intellectual disability|amyloidosis of gingiva and conjunctiva, with mental retardation|amyloidosis of gingiva and conjunctiva, with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0008776	http://identifiers.org/mesh/C565958|https://omim.org/entry/204850|UMLS:C1859815	gard_rare
MONDO:0006115	biolink:Disease	blast phase chronic myelogenous leukemia, BCR-ABL1 positive	An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001).	EFO:1000131|SCTID:413656006|MESH:D001752|UMLS:C0005699|NCIT:C9110	mondo.json	crises, blast|phases, blast|blast phase chronic myelogenous leukemia|blast phase chronic myelocytic leukemia|blast crisis|blastic phase chronic granulocytic leukemia|phase, blast|blastic phase chronic myelocytic leukemia|blastic phase chronic myeloid leukemia|blast phase CML|blast phase|blastic phase chronic myelogenous leukemia|crisis, blast|blast phases|blast phase chronic granulocytic leukemia|blast crises|blast phase chronic myeloid leukemia|blastic phase CML	http://purl.obolibrary.org/obo/MONDO_0006115	UMLS:C0005699|http://identifiers.org/snomedct/413656006|NCIT:C9110|http://identifiers.org/mesh/D001752	
OBO:cl#has_completed	biolink:NamedThing	has_completed			mondo.json		http://purl.obolibrary.org/obo/cl#has_completed		
MONDO:0006112	biolink:Disease	bladder inflammatory myofibroblastic tumor	A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.	NCIT:C6177|ONCOTREE:IMTB|UMLS:C1336891|EFO:1000127	mondo.json	inflammatory myofibroblastic neoplasm of the urinary bladder|bladder inflammatory myofibroblastic tumor|inflammatory myofibroblastic neoplasm of urinary bladder|inflammatory myofibroblastic tumor of the urinary bladder|inflammatory myofibroblastic tumor of urinary bladder|urinary bladder inflammatory myofibroblastic neoplasm|inflammatory myofibroblastic neoplasm of the bladder|inflammatory myofibroblastic neoplasm of bladder|inflammatory myofibroblastic tumor of the bladder|inflammatory myofibroblastic tumor of bladder|bladder inflammatory myofibroblastic neoplasm|inflammatory myofibroblastic bladder tumor|urinary bladder inflammatory myofibroblastic tumor	http://purl.obolibrary.org/obo/MONDO_0006112	NCIT:C6177|UMLS:C1336891	
HGNC:33848	biolink:NamedThing	COA5			mondo.json		http://identifiers.org/hgnc/33848		
MONDO:0008775	biolink:Disease	Amobarbital, deficient N-hydroxylation of		MESH:C565959|UMLS:C1859816|OMIM:204800	mondo.json	Amobarbital, deficient N-hydroxylation of	http://purl.obolibrary.org/obo/MONDO_0008775	http://identifiers.org/mesh/C565959|https://omim.org/entry/204800|UMLS:C1859816	
MONDO:0008774	biolink:Disease	2-aminoadipic 2-oxoadipic aciduria		OMIM:204750|MESH:C565453|OMIM:245130|DOID:0111453|Orphanet:79154|UMLS:C1855626	mondo.json	Ketoadipicaciduria|alpha-aminoadipic aciduria|2-aminoadipic 2-oxoadipic aciduria|AMOXAD|alpha-aminoadipic and alpha-ketoadipic aciduria	http://purl.obolibrary.org/obo/MONDO_0008774	Orphanet:79154|UMLS:C1855626|https://omim.org/entry/245130|https://omim.org/entry/204750|http://identifiers.org/mesh/C565453|DOID:0111453	ordo_disease
MONDO:0006113	biolink:Disease	obsolete bladder small cell neuroendocrine carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006113		
MONDO:0008773	biolink:Disease	amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis		UMLS:C1859818|GARD:0000763|OMIM:204730|MESH:C565960	mondo.json	amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis|amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis	http://purl.obolibrary.org/obo/MONDO_0008773	http://identifiers.org/mesh/C565960|https://omim.org/entry/204730|UMLS:C1859818	gard_rare
MONDO:0006110	biolink:Disease	obsolete bladder adenocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006110		
MONDO:0008772	biolink:Disease	amelogenesis imperfecta type 2A1	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene.	MESH:C567146|DOID:0110057|MESH:C538242|OMIM:204700|GARD:0009495	mondo.json	amelogenesis imperfecta pigmented hypomaturation type|AI2A1|amelogenesis imperfecta, pigmented hypomaturation type, 1|amelogenesis imperfecta, type IIA1|amelogenesis imperfecta caused by mutation in KLK4|amelogenesis imperfecta, hypomaturation type, IIA1|amelogenesis imperfecta type IIA1|KLK4 amelogenesis imperfecta|amelogenesis imperfecta pigmented hypomaturation type 1	http://purl.obolibrary.org/obo/MONDO_0008772	https://omim.org/entry/204700|http://identifiers.org/mesh/C567146|http://identifiers.org/mesh/C538242|DOID:0110057	gard_rare
MONDO:0006111	biolink:Disease	bladder flat intraepithelial lesion	A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ.	NCIT:C37266|EFO:1000126|DOID:5429|UMLS:C1332559	mondo.json	flat intraepithelial lesion of the bladder|bladder flat intraepithelial lesion|flat intraepithelial lesion of the urinary bladder|urinary bladder flat intraepithelial lesion	http://purl.obolibrary.org/obo/MONDO_0006111	NCIT:C37266|DOID:5429|UMLS:C1332559	
MONDO:0008771	biolink:Disease	amelogenesis imperfecta type 1G	An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure.	Orphanet:171836|OMIM:614253|SCTID:109477002|Orphanet:1031|DOID:0110066|MESH:C538241|ICD9:520.5|GARD:0000646|OMIM:204690|UMLS:CN200302|GARD:0009860	mondo.json	amelogenesis imperfecta caused by mutation in FAM20A|amelogenesis imperfecta, type IG|amelogenesis imperfecta nephrocalcinosis|ers|amelogenesis imperfecta-nephrocalcinosis syndrome|FAM20A amelogenesis imperfecta|generalized enamel hypoplasia and renal dysfunction|amelogenesis imperfecta, hypoplastic, with nephrocalcinosis|amelogenesis imperfecta type IG|AI1G|enamel-renal syndrome|amelogenesis imperfecta and gingival fibromatosis syndrome|amelogenesis imperfecta and nephrocalcinosis|amelogenesis imperfecta hypoplastic type, IG|enamel renal syndrome|amelogenesis imperfecta-gingival hyperplasia syndrome|AIGFS|amelogenesis imperfecta, type IG (enamel-renal syndrome)|amelogenesis imperfecta hypoplastic with nephrocalcinosis|enamel-renal-gingival syndrome|absent enamel, nephrocalcinosis and apparently normal calcium metabolism	http://purl.obolibrary.org/obo/MONDO_0008771	https://omim.org/entry/204690|http://identifiers.org/snomedct/109477002|Orphanet:171836|http://identifiers.org/mesh/C538241|Orphanet:1031|UMLS:CN200302|DOID:0110066	ordo_disease|ordo_malformation_syndrome
MONDO:0043101	biolink:Disease	hypothalamic dysfunction	Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients havevary depending on the hormones missing.Anumber of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction.	GARD:0002932|SCTID:111568001	mondo.json	hypothalamic syndrome|hypothalamic dysfunction	http://purl.obolibrary.org/obo/MONDO_0043101	http://identifiers.org/snomedct/111568001	gard_rare
MONDO:0008770	biolink:Disease	amelogenesis imperfecta type 1C		DOID:0110056|UMLS:C2673923|MESH:C567147|OMIM:204650	mondo.json	autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion|autosomal recessive amelogenesis imperfecta local hypoplastic type|amelogenesis imperfecta, local hypoplastic type, autosomal recessive|AI1C|amelogenesis imperfecta, type IC|amelogenesis imperfecta, hypoplastic, with or without Openbite malocclusion, autosomal recessive|amelogenesis imperfecta type IC|amelogenesis imperfecta, type 1C	http://purl.obolibrary.org/obo/MONDO_0008770	UMLS:C2673923|https://omim.org/entry/204650|http://identifiers.org/mesh/C567147|DOID:0110056	
MONDO:0018107	biolink:Disease	idiopathic recurrent and disabling cutaneous herpes		UMLS:CN204468|Orphanet:35061	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018107	Orphanet:35061|UMLS:CN204468	ordo_disease
MONDO:0018106	biolink:Disease	hereditary xanthinuria	Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.	ICD9:277.2|OMIMPS:278300|SCTID:54627004|HP:0010934|Orphanet:3467|DOID:0060236	mondo.json	xanthic urolithiasis|hereditary xanthinuria|xanthine dehydrogenase deficiency|xanthinuria|xanthine stone disease|classic xanthinuria	http://purl.obolibrary.org/obo/MONDO_0018106	https://omim.org/phenotypicSeries/PS278300|DOID:0060236|Orphanet:3467|http://identifiers.org/snomedct/54627004	ordo_disease
MONDO:0018109	biolink:Disease	fulminant viral hepatitis	Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV.	Orphanet:35063|MedDRA:10019772	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018109	http://identifiers.org/meddra/10019772|Orphanet:35063	ordo_disease
MONDO:0018108	biolink:Disease	idiopathic disseminated cytomegalovirus infection		Orphanet:35062|UMLS:CN204469	mondo.json	idiopathic disseminated CMV infection	http://purl.obolibrary.org/obo/MONDO_0018108	Orphanet:35062|UMLS:CN204469	ordo_disease
MONDO:0018103	biolink:Disease	Quinquaud's folliculitis decalvans	Folliculitis decalvans is a rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts.	ICD9:704.09|Orphanet:346|SCTID:53593008|GARD:0000373|UMLS:CN227263	mondo.json	Quinquaud's decalvans folliculitis|folliculitis decalvans|Quinquaud's disease|Quinquaud’s disease	http://purl.obolibrary.org/obo/MONDO_0018103	UMLS:CN227263|http://identifiers.org/snomedct/53593008|Orphanet:346	ordo_disease|gard_rare
MONDO:0018102	biolink:Disease	corneal dystrophy	The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value.	NCIT:C34513|Orphanet:34533|MESH:D003317|SCTID:5587004|HP:0001131|ICD9:371.5|UMLS:C0010036|ICD9:371.50|MedDRA:10011005|DOID:2566	mondo.json	corneal dystrophy|corneal dystrophy (disease)	http://purl.obolibrary.org/obo/MONDO_0018102	UMLS:C0010036|DOID:2566|http://identifiers.org/mesh/D003317|Orphanet:34533|http://identifiers.org/snomedct/5587004|NCIT:C34513	ordo_group_of_disorders|disease_grouping
MONDO:0021745	biolink:Disease	psychosocial short stature	A growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress.	GARD:0009440|MESH:C535569|UMLS:C1455735|SCTID:39465007	mondo.json	abuse dwarfism syndrome|psychosocial dwarfism|Kaspar Hauser syndrome|child abuse dwarfism	http://purl.obolibrary.org/obo/MONDO_0021745	UMLS:C1455735|http://identifiers.org/mesh/C535569|http://identifiers.org/snomedct/39465007	gard_rare
MONDO:0018105	biolink:Disease	Wolfram syndrome	Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).	MESH:D014929|Orphanet:3463|DOID:10632|GARD:0007898|ICD9:250.80|SCTID:70694009|UMLS:C0043207|UMLS:CN184630|NCIT:C35133	mondo.json	WFS|DIDMOAD|DIDMOAD syndrome|diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome|Wolfram syndrome|diabetes mellitus and insipidus with optic atrophy and deafness|diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0018105	http://identifiers.org/snomedct/70694009|DOID:10632|UMLS:CN184630|Orphanet:3463|UMLS:C0043207|NCIT:C35133|http://identifiers.org/mesh/D014929	ordo_disease
MONDO:0021746	biolink:Disease	pyelocystitis		EFO:1001835|MESH:D053653|UMLS:C0034184	mondo.json	Pyelocystitis|Cystopyelitis	http://purl.obolibrary.org/obo/MONDO_0021746	UMLS:C0034184|http://identifiers.org/mesh/D053653	
MONDO:0021747	biolink:Disease	Acanthamoeba infectious disease	A infectious disease involving the Acanthamoeba.	SCTID:49649001	mondo.json	Acanthamoeba infection|infections, Acanthamoeba|acanthamoebosis|acanthamoebiasis|infection caused by Acanthamoeba|infection by Acanthamoeba	http://purl.obolibrary.org/obo/MONDO_0021747	http://identifiers.org/snomedct/49649001	
MONDO:0018104	biolink:Disease	obsolete Torg-Winchester syndrome		Orphanet:3460	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018104	Orphanet:3460	ordo_clinical_subtype
MONDO:0018101	biolink:Disease	familial primary hypomagnesemia with normocalciuria and normocalcemia	Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.	UMLS:CN204443|UMLS:C4510731|SCTID:725031005|Orphanet:34527	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018101	http://identifiers.org/snomedct/725031005|UMLS:CN204443|UMLS:C4510731|Orphanet:34527	ordo_disease
MONDO:0018100	biolink:Disease	familial primary hypomagnesemia	A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration.	Orphanet:34526|GARD:0002906|SCTID:80710001|OMIMPS:602014|DOID:0060879|NCIT:C123263	mondo.json	HOMG|familial primary hypomagnesemia|primary familial hypomagnesemia|hypomagnesemia	http://purl.obolibrary.org/obo/MONDO_0018100	https://omim.org/phenotypicSeries/PS602014|http://identifiers.org/snomedct/80710001|DOID:0060879|NCIT:C123263|Orphanet:34526	disease_grouping|ordo_group_of_disorders
MONDO:0006129	biolink:Disease	obsolete central nervous system lymphoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006129		
MONDO:0021742	biolink:Disease	puerperal infection	An infection occurring in puerperium, the period of 6-8 weeks after giving birth.	EFO:1001407|MESH:D011645|UMLS:C0034041	mondo.json	Puerperal Infections|Puerperal Infection|Infections, Puerperal|Infection, Puerperal	http://purl.obolibrary.org/obo/MONDO_0021742	http://identifiers.org/mesh/D011645|UMLS:C0034041	
MONDO:0006127	biolink:Disease	obsolete cecum villous adenoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006127		
MONDO:0008789	biolink:Disease	anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane		OMIM:206300|UMLS:C1859786|MESH:C565953	mondo.json	anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane	http://purl.obolibrary.org/obo/MONDO_0008789	http://identifiers.org/mesh/C565953|https://omim.org/entry/206300|UMLS:C1859786	
MONDO:0006128	biolink:Disease	central nervous system anaplastic large cell lymphoma	An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord.	UMLS:C1335476|NCIT:C5322|EFO:1000156	mondo.json	anaplastic large cell lymphoma of central nervous system|anaplastic central nervous system large cell lymphoma|anaplastic large cell lymphoma of the CNS|anaplastic large cell lymphoma of the central nervous system|anaplastic large cell lymphoma of CNS|central nervous system anaplastic large cell lymphoma|primary central nervous system anaplastic large cell lymphoma|anaplastic CNS large cell lymphoma|primary CNS anaplastic large cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0006128	NCIT:C5322|UMLS:C1335476	
MONDO:0043114	biolink:Disease	Landy-Donnai syndrome		MESH:C537266|UMLS:C2931460|GARD:0003172	mondo.json	hydrops, ectrodactyly, syndactyly, duplication of the great toes	http://purl.obolibrary.org/obo/MONDO_0043114	http://identifiers.org/mesh/C537266|UMLS:C2931460	gard_rare
MONDO:0008788	biolink:Disease	IRIDA syndrome	IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.	OMIM:206200|GARD:0010957|Orphanet:209981|SCTID:722005000|MESH:C562385	mondo.json	iron-handling disorder, hereditary|pseudo-iron-deficiency Anemia|IRIDA syndrome|iron-refractory iron deficiency anemia|anemia, hypochromic microcytic, with defect in iron metabolism|IRIDA	http://purl.obolibrary.org/obo/MONDO_0008788	https://omim.org/entry/206200|http://identifiers.org/mesh/C562385|http://identifiers.org/snomedct/722005000|Orphanet:209981	ordo_disease
SO:0002072	biolink:SequenceFeature	sequence_comparison	A position or feature where two sequences have been compared.		mondo.json	sequence comparison|INSDC_note:sequence_comparison|INSDC_feature:misc_feature	http://purl.obolibrary.org/obo/SO_0002072		
MONDO:0006125	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0006125		
MONDO:0006126	biolink:Disease	cecum neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	EFO:1000154|NCIT:C5501|UMLS:C0854488	mondo.json	grade 1 neuroendocrine neoplasm of caecum|caecum NET G1|cecum NET G1|cecum neuroendocrine tumor G1|cecal carcinoid tumor|caecum neuroendocrine tumor, well differentiated, low grade|caecum carcinoid tumor|cecum carcinoid tumor|caecal carcinoid tumor|carcinoid tumor of the cecum|carcinoid tumor of cecum|caecum carcinoid tumor (disease)|caecum neuroendocrine neoplasm G1	http://purl.obolibrary.org/obo/MONDO_0006126	UMLS:C0854488|NCIT:C5501	
MONDO:0008787	biolink:Disease	microcytic anemia with liver iron overload	Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.	OMIM:206100|GARD:0012360|SCTID:711161006|Orphanet:83642	mondo.json	hypochromic microcytic anemia with iron overload|AHMIO1|anemia, hypochromic microcytic, with iron overload 1|anemia, hypochromic microcytic, with iron overload type 1|microcytic anemia and hepatic iron overload	http://purl.obolibrary.org/obo/MONDO_0008787	https://omim.org/entry/206100|Orphanet:83642|http://identifiers.org/snomedct/711161006	ordo_disease
MONDO:0006123	biolink:Disease	cardiac rhabdomyoma	A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis.	HP:0009729|EFO:1000150|NCIT:C6739|UMLS:C1332852	mondo.json	rhabdomyoma of the heart|rhabdomyoma of heart|cardiac rhabdomyoma|cardiac rhabdomyoma (disease)|heart rhabdomyoma	http://purl.obolibrary.org/obo/MONDO_0006123	NCIT:C6739|UMLS:C1332852	
GO:0043401	biolink:NamedThing	steroid hormone mediated signaling pathway	The series of molecular signals mediated by a steroid hormone binding to a receptor.		mondo.json	steroid hormone mediated signalling	http://purl.obolibrary.org/obo/GO_0043401		
MONDO:0008786	biolink:Disease	pyridoxine-responsive sideroblastic anemia		DOID:0060066|OMIM:206000|UMLS:C0272027|UMLS:C1859787|GARD:0009872|MESH:C565954|SCTID:191260004	mondo.json	anemia, sideroblastic, pyridoxine-responsive, autosomal recessive|anemia congenital sideroblastic B6-responsive|B6-responsive sideroblastic anemia|anemia, congenital sideroblastic, B6-responsive|sideroblastic anemia pyridoxine-responsive autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0008786	http://identifiers.org/mesh/C565954|DOID:0060066|http://identifiers.org/snomedct/191260004|UMLS:C0272027|UMLS:C1859787|https://omim.org/entry/206000	
MONDO:0043116	biolink:Disease	iida kannari syndrome		GARD:0003249|UMLS:C2931159|MESH:C536284	mondo.json	craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features	http://purl.obolibrary.org/obo/MONDO_0043116	http://identifiers.org/mesh/C536284|UMLS:C2931159	gard_rare
MONDO:0008785	biolink:Disease	sideroblastic anemia 2		MESH:C567145|DOID:0060065|GARD:0008249|OMIM:205950	mondo.json	pyridoxine refractory sideroblastic anemia|anemia, sideroblastic, pyridoxine-refractory, autosomal recessive|sideroblastic anemia pyridoxine-refractory autosomal recessive|anemia, sideroblastic, 2, pyridoxine-refractory|SIDBA2	http://purl.obolibrary.org/obo/MONDO_0008785	DOID:0060065|https://omim.org/entry/205950|http://identifiers.org/mesh/C567145	
MONDO:0006124	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0006124		
GO:0043400	biolink:NamedThing	cortisol secretion	The regulated release of cortisol, a steroid hormone that in humans is the major circulating hormone of the cortex, or outer layer, of the adrenal gland.		mondo.json	hydrocortisone secretion	http://purl.obolibrary.org/obo/GO_0043400		
MONDO:0006121	biolink:Disease	calcifying fibrous tumor	A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications.	NCIT:C6488|EFO:1000148|UMLS:C1332833	mondo.json	CFT|calcifying fibrous pseudotumor|calcifying fibrous tumor	http://purl.obolibrary.org/obo/MONDO_0006121	NCIT:C6488|UMLS:C1332833	
MONDO:0043110	biolink:Disease	jones hersh yusk syndrome		MESH:C535885|UMLS:C2931054|GARD:0003055	mondo.json	ptosis, ectropion, thin skin, beaked nose|aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly|aplasia cutis cleft palate epidermolysis	http://purl.obolibrary.org/obo/MONDO_0043110	http://identifiers.org/mesh/C535885|UMLS:C2931054	gard_rare
MONDO:0008784	biolink:Disease	obsolete autoimmune hemolytic anemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008784		
MONDO:0008783	biolink:Disease	Tangier disease	Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.	GARD:0007731|SCTID:723579009|UMLS:C0039292|MedDRA:10051875|MESH:D013631|NCIT:C85182|OMIM:205400|DOID:1388|Orphanet:31150	mondo.json	HDL lipoprotein deficiency disease|Analphalipoproteinemia|defective adenosine triphosphate-binding cassette transporter A1|HDLDT1|cholesterol thesaurismosis|tgd|Tangier disease|familial high density lipoprotein deficiency|A-alphalipoprotein neuropathy|Analphalipo-proteinemia|familial high density lipoprotein deficiency disease|high density lipoprotein deficiency, type 1|Alpha high density lipoprotein deficiency disease|high density lipoprotein deficiency, Tangier type|ATP-binding cassette transporter A1 deficiency|familial alpha-lipoprotein deficiency|familial Hypoalphalipo-proteinemia	http://purl.obolibrary.org/obo/MONDO_0008783	NCIT:C85182|https://omim.org/entry/205400|DOID:1388|http://identifiers.org/snomedct/723579009|UMLS:C0039292|Orphanet:31150|http://identifiers.org/mesh/D013631	ordo_disease
MONDO:0006122	biolink:Disease	calcifying nested epithelial stromal tumor of the liver	A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present.	ICDO:8975/1|NCIT:C96830|UMLS:C3273067|EFO:1000149	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006122	UMLS:C3273067|NCIT:C96830	
MONDO:0008782	biolink:Disease	amyotrophic lateral sclerosis with polyglucosan bodies		OMIM:205250|MESH:C565955|UMLS:C1859805	mondo.json	amyotrophic lateral sclerosis with polyglucosan bodies	http://purl.obolibrary.org/obo/MONDO_0008782	https://omim.org/entry/205250|UMLS:C1859805|http://identifiers.org/mesh/C565955	
MONDO:0043112	biolink:Disease	lachiewicz sibley syndrome		GARD:0003157|MESH:C538131|UMLS:C2931742	mondo.json	hereditary renal disease and preauricular pits	http://purl.obolibrary.org/obo/MONDO_0043112	UMLS:C2931742|http://identifiers.org/mesh/C538131	gard_rare
MONDO:0006120	biolink:Disease	C-cell hyperplasia	Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism).	UMLS:C0342190|EFO:1000147|NCIT:C46100	mondo.json	C-cell hyperplasia	http://purl.obolibrary.org/obo/MONDO_0006120	NCIT:C46100|UMLS:C0342190	
MONDO:0008781	biolink:Disease	juvenile amyotrophic lateral sclerosis with dementia	A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia.	OMIM:205200|DOID:0110067|MESH:C565956|UMLS:C1859806	mondo.json	ALS-dementia Complex|amyotrophic lateral sclerosis, juvenile, with dementia|ALS-dementia complex	http://purl.obolibrary.org/obo/MONDO_0008781	UMLS:C1859806|DOID:0110067|http://identifiers.org/mesh/C565956|https://omim.org/entry/205200	
MONDO:0008780	biolink:Disease	amyotrophic lateral sclerosis type 2, juvenile	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene.	OMIM:205100|DOID:0060194|MESH:C565957|GARD:0009470	mondo.json	amyotrophic lateral sclerosis 2|ALS2|ALS2 amyotrophic lateral sclerosis|ALS, juvenile|amyotrophic lateral sclerosis caused by mutation in ALS2|amyotrophic lateral sclerosis 2, juvenile	http://purl.obolibrary.org/obo/MONDO_0008780	http://identifiers.org/mesh/C565957|https://omim.org/entry/205100|DOID:0060194	gard_rare
MONDO:0043106	biolink:Disease	ichthyosis linearis circumflexa		GARD:0002967|SCTID:54336006	mondo.json	ichthyosis linearis circumflexa	http://purl.obolibrary.org/obo/MONDO_0043106	http://identifiers.org/snomedct/54336006	gard_rare
MONDO:0043108	biolink:Disease	infantile striato thalamic degeneration		Orphanet:1575|GARD:0003004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0043108	Orphanet:1575	gard_rare
CHR:9606-chr9q22	biolink:NamedThing	9q22 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr9q22		
CHR:9606-chr9q21	biolink:NamedThing	9q21 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr9q21		
MONDO:0021736	biolink:Disease	proctosigmoiditis	Inflammation of the sigmoid colon and rectum.	NCIT:C34950|ICD9:569.89|SCTID:41364008|UMLS:C0033252	mondo.json	proctosigmoiditis|Proctosigmoiditis|rectosigmoiditis|Rectosigmoiditis	http://purl.obolibrary.org/obo/MONDO_0021736	UMLS:C0033252|http://identifiers.org/snomedct/41364008|NCIT:C34950	
HGNC:21869	biolink:NamedThing	AGK			mondo.json		http://identifiers.org/hgnc/21869		
MONDO:0021739	biolink:Disease	prurigo	A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed)	SCTID:64144002|ICD9:698.8|UMLS:C0033771|ICD9:698.2|MESH:D011536	mondo.json	Itchy skin eruption|Pruritic rash|itchy skin eruption|prurigo|Prurigo|pruritic rash	http://purl.obolibrary.org/obo/MONDO_0021739	http://identifiers.org/mesh/D011536|UMLS:C0033771|http://identifiers.org/snomedct/64144002	
MONDO:0018161	biolink:Disease	non-hereditary retinoblastoma		UMLS:CN204600|Orphanet:357034	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018161	Orphanet:357034|UMLS:CN204600	ordo_clinical_subtype
MONDO:0018160	biolink:Disease	hereditary retinoblastoma	An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.	Orphanet:357027|OMIM:180200|NCIT:C8495|DOID:4648	mondo.json	familial retinoblastoma|hereditary retinoblastoma|RB1|retinoblastoma, autosomal dominant, somatic mutation|retinoblastoma, trilateral, autosomal dominant, somatic mutation	http://purl.obolibrary.org/obo/MONDO_0018160	Orphanet:357027|https://omim.org/entry/180200|NCIT:C8495|DOID:4648	ordo_clinical_subtype
MONDO:0018163	biolink:Disease	autosomal recessive cutis laxa type 2A	An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.	DOID:0070134|OMIM:219200|Orphanet:357058|GARD:0001638	mondo.json	cutis laxa with bone dystrophy|cutis laxa, debre type|ARCL2A|cutis laxa with Joint laxity and retarded development|cutis laxa, autosomal recessive, type 2A|autosomal recessive cutis laxa type 2A|cutis laxa with congenital disorder of glycosylation|cutis laxa, autosomal recessive, type IIA|autosomal recessive cutis laxa type IIA|cutis laxa, autosomal recessive type 2A|cutis laxa with growth and developmental delay	http://purl.obolibrary.org/obo/MONDO_0018163	Orphanet:357058|https://omim.org/entry/219200|DOID:0070134	ordo_disease
MONDO:0033717	biolink:Disease	congenital cerebellar ataxia due to RNU12 mutation	A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.	Orphanet:512260	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033717	Orphanet:512260	ordo_disease
MONDO:0018162	biolink:Disease	neurometabolic disorder due to serine deficiency	Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency.	Orphanet:35705|UMLS:CN227274	mondo.json	neurometabolic disorder due to serine deficiency|serine deficiency	http://purl.obolibrary.org/obo/MONDO_0018162	Orphanet:35705|UMLS:CN227274	disease_grouping|ordo_group_of_disorders
MONDO:0006178	biolink:Disease	dedifferentiated solitary fibrous tumor	A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma.	EFO:1000214|NCIT:C79948|UMLS:C2699572	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006178	NCIT:C79948|UMLS:C2699572	
GO:0043412	biolink:NamedThing	macromolecule modification	The covalent alteration of one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule, resulting in a change in its properties.		mondo.json		http://purl.obolibrary.org/obo/GO_0043412		
MONDO:0006179	biolink:Disease	desmoplastic ameloblastoma	An ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands.	UMLS:C0457533|EFO:1000215|NCIT:C39758	mondo.json	desmoplastic ameloblastoma	http://purl.obolibrary.org/obo/MONDO_0006179	UMLS:C0457533|NCIT:C39758	
MONDO:0006176	biolink:Disease	cribriform carcinoma	A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma.	NCIT:C3680|ICDO:8201/3|EFO:1000210|UMLS:C0205643	mondo.json	cribriform carcinoma	http://purl.obolibrary.org/obo/MONDO_0006176	NCIT:C3680|UMLS:C0205643	
MONDO:0006177	biolink:Disease	obsolete cutaneous undifferentiated pleomorphic sarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006177		
MONDO:0006174	biolink:Disease	cortisol-producing adrenal cortex adenoma	An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension.	NCIT:C48449|UMLS:C1707525|EFO:1000208	mondo.json	cortisol producing adrenal cortical adenoma|cortisol producing adrenal cortex adenoma|cortisol-producing adrenal cortex adenoma	http://purl.obolibrary.org/obo/MONDO_0006174	NCIT:C48449|UMLS:C1707525	
MONDO:0006175	biolink:Disease	obsolete craniopharyngioma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006175		
MONDO:0006172	biolink:Disease	conjunctival nevus	A benign melanocytic neoplasm that arises from the conjunctiva.	NCIT:C4551|SCTID:255006004|DOID:0050906|UMLS:C0346363|EFO:1000205	mondo.json	conjunctival nevus|Nevus of the conjunctiva|Nevus of conjunctiva	http://purl.obolibrary.org/obo/MONDO_0006172	http://identifiers.org/snomedct/255006004|DOID:0050906|NCIT:C4551|UMLS:C0346363	
MONDO:0006173	biolink:Disease	conjunctival squamous cell carcinoma	A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain.	SCTID:255003007|NCIT:C4549|UMLS:C0346359|DOID:1748|EFO:1000206	mondo.json	conjunctival squamous cell carcinoma|ocular surface squamous neoplasia|conjunctiva squamous cell carcinoma|invasive squamous cell carcinoma of the conjunctiva|conjunctival squamous cell cancer|conjunctiva epidermoid carcinoma|conjunctival epidermoid carcinoma|epidermoid carcinoma of the conjunctiva|epidermoid carcinoma of conjunctiva|squamous cell carcinoma of conjunctiva|squamous cell carcinoma of the conjunctiva	http://purl.obolibrary.org/obo/MONDO_0006173	http://identifiers.org/snomedct/255003007|DOID:1748|NCIT:C4549|UMLS:C0346359	
MONDO:0006170	biolink:Disease	conjunctival disorder	Any disorder of the conjunctiva.	ICD10CM:H10-H11|NCIT:C27605|DOID:4251|EFO:1000203	mondo.json	conjunctiva disease|disease or disorder of conjunctiva|conjunctival disease|conjunctiva disease or disorder|conjunctival disorder|disease of conjunctiva|disorder of conjunctiva	http://purl.obolibrary.org/obo/MONDO_0006170	DOID:4251|NCIT:C27605|http://purl.bioontology.org/ontology/ICD10CM/H10-H11	
MONDO:0006171	biolink:Disease	obsolete conjunctival melanoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006171		
GO:0043413	biolink:NamedThing	macromolecule glycosylation	The covalent attachment of a glycosyl residue to one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0043413		
MONDO:0018169	biolink:Disease	morning glory syndrome	Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disc malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies.	UMLS:C0549307|Orphanet:35737|MedDRA:10027974|GARD:0013354	mondo.json	Volubilis syndrome|Ectasic coloboma	http://purl.obolibrary.org/obo/MONDO_0018169	UMLS:C0549307|Orphanet:35737	gard_rare|ordo_morphological_anomaly
MONDO:0018168	biolink:Disease	primary non-essential cutis verticis gyrata		UMLS:CN204616|Orphanet:357225	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018168	Orphanet:357225|UMLS:CN204616	ordo_disease
MONDO:0018165	biolink:Disease	venous thoracic outlet syndrome	Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS) that manifests as unilateral (rarely bilateral) arm pain and cyanosis.	SCTID:25981000119102|UMLS:C1956396|Orphanet:357131	mondo.json	Venous scalenus anticus syndrome|effort subclavian vein thrombosis|Venous cervical rib syndrome|Paget-Schrotter disease|Venous hyperabduction syndrome|Venous TOS|Venous thoracic outlet compression syndrome|VTOS|Venous costoclavicular syndrome	http://purl.obolibrary.org/obo/MONDO_0018165	Orphanet:357131|UMLS:C1956396|http://identifiers.org/snomedct/25981000119102	ordo_clinical_subtype
MONDO:0018164	biolink:Disease	arterial thoracic outlet syndrome	Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS) that presents as unilateral upper extremity ischemia.	UMLS:C1956395|Orphanet:357107|SCTID:8051000119105	mondo.json	arterial scalenus anticus syndrome|arterial cervical rib syndrome|arterial thoracic outlet compression syndrome|arterial TOS|arterial hyperabduction syndrome|ATOS|arterial costoclavicular syndrome	http://purl.obolibrary.org/obo/MONDO_0018164	Orphanet:357107|UMLS:C1956395|http://identifiers.org/snomedct/8051000119105	ordo_clinical_subtype
MONDO:0018167	biolink:Disease	primary essential cutis verticis gyrata	Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes.	SCTID:765135003|UMLS:CN204615|Orphanet:357220	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018167	Orphanet:357220|http://identifiers.org/snomedct/765135003|UMLS:CN204615	ordo_disease
MONDO:0018166	biolink:Disease	oral submucous fibrosis	Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.	GARD:0007264|ICD9:528.8|EFO:1001818|UMLS:C0029172|UMLS:C0029171|DOID:5773|SCTID:32883009|NCIT:C34866|Orphanet:357154|ICD10CM:K13.5|MESH:D009914	mondo.json	oral submucosal fibrosis|OSMF|oral submucosal fibrosis, including of tongue|oral cavity submucous fibrosis	http://purl.obolibrary.org/obo/MONDO_0018166	http://identifiers.org/mesh/D009914|Orphanet:357154|DOID:5773|NCIT:C34866|http://identifiers.org/snomedct/32883009|http://purl.bioontology.org/ontology/ICD10CM/K13.5|UMLS:C0029172|UMLS:C0029171	ordo_disease|gard_rare
MONDO:0018150	biolink:Disease	Gaucher disease	Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).	MESH:D005776|ICD10CM:E75.22|MedDRA:10018048|SCTID:190794006|DOID:1926|Orphanet:355|NCIT:C61268|GARD:0008233|UMLS:C0017205	mondo.json	Gaucher syndrome|Gaucher splenomegaly|glucosylceramidase deficiency|kerasin lipoidosis|acute cerebral Gaucher disease|cerebroside lipidosis syndrome|glucosylceramide beta-glucosidase deficiency|glucocerebrosidosis|kerasin histiocytosis|lipoid histiocytosis (kerasin type)|acid beta-glucosidase deficiency|Gaucher disease|glocucerebrosidase deficiency|glucocerebrosidase deficiency|kerasin thesaurismosis|glucosyl cerebroside lipidosis|Gaucher's disease|sphingolipidosis 1	http://purl.obolibrary.org/obo/MONDO_0018150	Orphanet:355|NCIT:C61268|UMLS:C0017205|http://identifiers.org/mesh/D005776|DOID:1926|http://purl.bioontology.org/ontology/ICD10CM/E75.22|http://identifiers.org/snomedct/190794006	ordo_disease
MONDO:0018152	biolink:Disease	serpiginous choroiditis	Serpiginous choroiditis is a rare inflammatory eye condition that typicallydevelops betweenage 30 and 70 years. Affected individuals have lesions in the eye thatlast from weeks to months and involve scarringof the eye tissue.Recurrence of these lesionsis common in serpiginous choroiditis. Vision loss may occurin one or both eyeswhen the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications.	ICD9:363.8|SCTID:312491004|UMLS:C0729842|GARD:0000031|Orphanet:35686	mondo.json	geographic serpiginous choroiditis|peripapillary choriopathy|serpiginous choroidopathy|geographic choroiditis|geographic helicoid peripapillary choroidopathy (GHPC)|geographic helicoid peripapillary choroidopathy	http://purl.obolibrary.org/obo/MONDO_0018152	http://identifiers.org/snomedct/312491004|UMLS:C0729842|Orphanet:35686	gard_rare|ordo_disease
MONDO:0018151	biolink:Disease	coenzyme Q10 deficiency	A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency.	MESH:C564403|GARD:0010423|UMLS:C1843920|DOID:0050730|NCIT:C142083|SCTID:724575009|OMIMPS:607426|Orphanet:35656|UMLS:CN229570	mondo.json	CoQ10 deficiency|CoQ10 deficiency, primary|coenzyme Q10 deficiency, primary|coenzyme Q10 deficiency disease	http://purl.obolibrary.org/obo/MONDO_0018151	http://identifiers.org/snomedct/724575009|DOID:0050730|UMLS:C1843920|http://identifiers.org/mesh/C564403|NCIT:C142083|Orphanet:35656|UMLS:CN229570|https://omim.org/phenotypicSeries/PS607426	ordo_group_of_disorders|disease_grouping|gard_rare
NCBITaxon:476427	biolink:OrganismalEntity	Xenopsyllinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_476427		
MONDO:0006189	biolink:Disease	eccrine porocarcinoma	A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites.	SCTID:254708001|UMLS:C1266065|ICDO:8409/3|DOID:7566|NCIT:C5560|MESH:D057090|ONCOTREE:POCA|EFO:1000229|GARD:0007431	mondo.json	eccrine porocarcinoma|porocarcinoma|epidermotropic eccrine carcinoma|eccrine porocarcinoma of skin|porocarcinoma/spiroadenocarcinoma|malignant eccrine poroma	http://purl.obolibrary.org/obo/MONDO_0006189	DOID:7566|UMLS:C1266065|http://identifiers.org/snomedct/254708001|NCIT:C5560|http://identifiers.org/mesh/D057090	gard_rare
MONDO:0006187	biolink:Disease	duodenal villous adenoma	A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.	EFO:1000225|DOID:0050927|NCIT:C5338|UMLS:C1333322	mondo.json	villous adenoma, duodenum|duodenal villous adenoma|duodenum villous adenoma|duodenum adenoma|villous adenoma of duodenum|villous adenoma of the duodenum	http://purl.obolibrary.org/obo/MONDO_0006187	UMLS:C1333322|DOID:0050927|NCIT:C5338	
MONDO:0006188	biolink:Disease	EBV-positive T-cell lymphoproliferative disorder of childhood	An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoma of childhood and the hydroa vacciniforme-like lymphoma.	UMLS:C2699838|EFO:1000228|NCIT:C80373	mondo.json	EBV-positive T-cell lymphoproliferative disease of childhood|EBV-positive T-cell lymphoproliferative disorder of childhood	http://purl.obolibrary.org/obo/MONDO_0006188	NCIT:C80373|UMLS:C2699838	
MONDO:0006185	biolink:Disease	obsolete ductal or ductular proliferation	OBSOLETE. A morphologic finding indicating the presence of typical or atypical proliferation of biliary epithelial cells in the portal tracts of the liver.	EFO:1000222	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006185		
MONDO:0006186	biolink:Disease	duodenal adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the duodenum.	EFO:1000223|SCTID:408644002|NCIT:C7889|UMLS:C0278804|ONCOTREE:DA|DOID:10816	mondo.json	adenocarcinoma of the duodenum|duodenal adenocarcinoma|duodenum adenocarcinoma|adenocarcinoma of duodenum	http://purl.obolibrary.org/obo/MONDO_0006186	UMLS:C0278804|NCIT:C7889|http://identifiers.org/snomedct/408644002|DOID:10816	
MONDO:0006183	biolink:Disease	disseminated peritoneal leiomyomatosis	A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously.	GARD:0012843|EFO:1000220|Orphanet:71274|UMLS:C0267785|NCIT:C3958|SCTID:62557001|DOID:5728	mondo.json	DPL|LPD|diffuse peritoneal leiomyomatosis|leiomyomatosis peritonealis disseminate|disseminated peritoneal leiomyomatosis|leiomyomatosis peritonealis disseminata	http://purl.obolibrary.org/obo/MONDO_0006183	DOID:5728|Orphanet:71274|http://identifiers.org/snomedct/62557001|NCIT:C3958|UMLS:C0267785	ordo_disease
NCBITaxon:439488	biolink:OrganismalEntity	ssRNA viruses		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_439488		
MONDO:0006184	biolink:Disease	ductal breast carcinoma in situ and lobular carcinoma in situ	The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion.	NCIT:C4195|EFO:1000221|UMLS:C0334383|ICDO:8522/2	mondo.json	non-infiltrating ductal with non-infiltrating lobular carcinoma of breast|ductal and lobular breast carcinoma in situ|ductal and lobular carcinoma in situ of breast|non-infiltrating ductal with non-infiltrating lobular carcinoma of the breast|non-invasive ductal breast carcinoma with non-invasive lobular breast carcinoma|non-invasive ductal carcinoma with non-invasive lobular carcinoma of breast|non-invasive ductal carcinoma with non-invasive lobular carcinoma of the breast|ductal and lobular carcinoma in situ of the breast|intraductal and lobular carcinoma in situ of breast|intraductal and lobular carcinoma in situ of the breast|non-infiltrating ductal and non-infiltrating lobular breast carcinoma|non-invasive ductal and non-invasive lobular breast carcinoma|non-invasive ductal with non-invasive lobular breast carcinoma|non-invasive ductal and non-invasive lobular carcinoma|intraductal carcinoma and lobular carcinoma in situ|DCIS and LCIS of breast|DCIS and LCIS of the breast|ductal carcinoma in situ with lobular carcinoma in situ of breast|ductal carcinoma in situ with lobular carcinoma in situ of the breast|intraductal and lobular breast carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0006184	NCIT:C4195|UMLS:C0334383	
MONDO:0006181	biolink:Disease	digestive system carcinoma	A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma.	UMLS:C0151544|EFO:1000218|NCIT:C96963|HP:0002672|DOID:0050922	mondo.json	gastrointestinal system carcinoma|carcinoma of digestive system|gastrointestinal carcinoma (disease)|digestive system carcinoma|carcinoma of the gastrointestinal system|gastrointestinal carcinoma	http://purl.obolibrary.org/obo/MONDO_0006181	DOID:0050922|NCIT:C96963|UMLS:C0151544	
MONDO:0006182	biolink:Disease	digestive system mixed adenoneuroendocrine carcinoma	A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made.	ICDO:8244/3|UMLS:C2987129|NCIT:C95406|EFO:1000219	mondo.json	digestive system Mixed Adenoneuroendocrine cancer|mixed Adenoneuroendocrine carcinoma|gastrointestinal mixed Adenoneuroendocrine carcinoma|MANEC|digestive system mixed adenoneuroendocrine carcinoma|gastrointestinal MANEC	http://purl.obolibrary.org/obo/MONDO_0006182	UMLS:C2987129|NCIT:C95406	
MONDO:0006180	biolink:Disease	digestive system adenoma	A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation.	DOID:4147|UMLS:C0948101|EFO:1000217|NCIT:C36207	mondo.json	gastrointestinal adenoma|GI adenoma|digestive system adenoma|digestive tract adenoma	http://purl.obolibrary.org/obo/MONDO_0006180	DOID:4147|UMLS:C0948101|NCIT:C36207	
MONDO:0018158	biolink:Disease	mitochondrial DNA depletion syndrome	The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.	DOID:0070329|UMLS:CN239350|OMIMPS:603041|MedDRA:10059396|Orphanet:35698	mondo.json	mtDNA depletion syndrome	http://purl.obolibrary.org/obo/MONDO_0018158	Orphanet:35698|DOID:0070329|UMLS:CN239350|https://omim.org/phenotypicSeries/PS603041	ordo_group_of_disorders|disease_grouping
MONDO:0018157	biolink:Disease	obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis		Orphanet:35696|UMLS:CN227273	mondo.json	combined OXPHOS defect|combined oxidative phosphorylation defect|combined OXPHOS deficiency|COXPD	http://purl.obolibrary.org/obo/MONDO_0018157	Orphanet:35696|UMLS:CN227273	ordo_group_of_disorders
MONDO:0018159	biolink:Disease	atypical hemolytic-uremic syndrome with DGKE deficiency		DOID:0080388|Orphanet:357008|UMLS:CN204596	mondo.json	hemolytic-uremic syndrome without diarrhea with DGKE deficiency|D-HUS with DGKE deficiency|atypical HUS with DGKE deficiency|aHUS with DGKE deficiency	http://purl.obolibrary.org/obo/MONDO_0018159	UMLS:CN204596|DOID:0080388|Orphanet:357008	ordo_etiological_subtype
MONDO:0018154	biolink:Disease	Madelung deformity	Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow.	ICD9:755.54|SCTID:4530000|MESH:C562398|GARD:0012973|MedDRA:10007700|Orphanet:35688	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018154	http://identifiers.org/snomedct/4530000|http://identifiers.org/mesh/C562398|Orphanet:35688	ordo_morphological_anomaly
MONDO:0018153	biolink:Disease	Erdheim-Chester disease	Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.	DOID:4329|MESH:D031249|MedDRA:10060801|ONCOTREE:ECD|ICD9:277.89|GARD:0006369|EFO:1000926|Orphanet:35687|UMLS:C0878675|SCTID:699537002|NCIT:C53972	mondo.json	lipoid granulomatosis|lipogranulomatosis|ECD|Erdheim Chester disease|polyostotic sclerosing histiocytosis|Erdheim-Chester disease	http://purl.obolibrary.org/obo/MONDO_0018153	http://identifiers.org/mesh/D031249|NCIT:C53972|DOID:4329|http://identifiers.org/snomedct/699537002|UMLS:C0878675|Orphanet:35687	ordo_disease
MONDO:0018156	biolink:Disease	3q26q27 microdeletion syndrome		UMLS:CN204590|Orphanet:356947	mondo.json	monosomy 3q26-q27|monosomy 3q26q27|3q26-q27microdeletion syndrome|Del(3)(q26q27)	http://purl.obolibrary.org/obo/MONDO_0018156	Orphanet:356947|UMLS:CN204590	ordo_malformation_syndrome
MONDO:0018155	biolink:Disease	lateral sclerosis	Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.	Orphanet:35689|MedDRA:10036704|DOID:230|ICD9:335.24|NCIT:C129933|SCTID:81211007|UMLS:C0154682|GARD:0010684	mondo.json	adult-onset primary lateral sclerosis|PLS|primary lateral sclerosis|adult-onset PLS	http://purl.obolibrary.org/obo/MONDO_0018155	DOID:230|NCIT:C129933|http://identifiers.org/snomedct/81211007|UMLS:C0154682|Orphanet:35689	ordo_disease
MONDO:0018141	biolink:Disease	pyruvate carboxylase deficiency, infantile form	Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.	UMLS:CN204538|Orphanet:353308	mondo.json	pyruvate carboxylase deficiency, infantile type|pyruvate carboxylase deficiency type A	http://purl.obolibrary.org/obo/MONDO_0018141	UMLS:CN204538|Orphanet:353308	ordo_clinical_subtype
MONDO:0018140	biolink:Disease	obsolete burning mouth syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018140		
MONDO:0006158	biolink:Disease	colorectal diffuse large B-cell lymphoma	A diffuse large B-cell lymphoma that arises from the colon or rectum.	NCIT:C96503|EFO:1000191|UMLS:C3272827	mondo.json	colorectum diffuse large B-cell lymphoma|colorectal diffuse large B-cell lymphoma|colorectal DLBCL|diffuse large B-cell lymphoma of colorectum	http://purl.obolibrary.org/obo/MONDO_0006158	NCIT:C96503|UMLS:C3272827	
MONDO:0006159	biolink:Disease	colorectal gastrointestinal stromal tumor	A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course.	EFO:1000192|NCIT:C27735|UMLS:C1333109	mondo.json	colorectal gastrointestinal stromal tumor (gist)|colorectal (colon or rectal) gastrointestinal stromal tumor (gist)|colorectal gastrointestinal stromal tumor|colorectal gist	http://purl.obolibrary.org/obo/MONDO_0006159	NCIT:C27735|UMLS:C1333109	
GO:0043434	biolink:NamedThing	response to peptide hormone	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals.		mondo.json	response to peptide hormone stimulus|response to polypeptide hormone stimulus	http://purl.obolibrary.org/obo/GO_0043434		
MONDO:0006156	biolink:Disease	colon sessile serrated adenoma/polyp	A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability.	EFO:1000189|UMLS:C3272791|NCIT:C96464	mondo.json	colon SSA/P|colon sessile serrated adenoma/polyp|colon SSA|colon SSP|colon sessile serrated adenoma|colon sessile serrated polyp	http://purl.obolibrary.org/obo/MONDO_0006156	NCIT:C96464|UMLS:C3272791	
MONDO:0006157	biolink:Disease	colorectal adenosquamous carcinoma	An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.	NCIT:C43589|EFO:1000190|UMLS:C1707437	mondo.json	colorectal adenosquamous cancer|colorectal (colon or rectal) adenosquamous cancer|colorectal adenosquamous carcinoma|colorectum adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006157	NCIT:C43589|UMLS:C1707437	
GO:0043433	biolink:NamedThing	negative regulation of DNA-binding transcription factor activity	Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription.		mondo.json	negative regulation of thyroid hormone receptor activity|negative regulation of transcription factor activity|down-regulation of transcription factor activity|negative regulation of androgen receptor activity|down regulation of transcription factor activity|negative regulation of DNA binding transcription factor activity|negative regulation of sequence-specific DNA binding transcription factor activity|downregulation of transcription factor activity|inhibition of transcription factor activity	http://purl.obolibrary.org/obo/GO_0043433		
MONDO:0006154	biolink:Disease	colon mucosa-associated lymphoid tissue lymphoma	An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon.	NCIT:C5498|UMLS:C1333096|EFO:1000186	mondo.json	MALT lymphoma of the colon|colonic MALT lymphoma|MALT lymphoma of colon|colon MALToma|MALToma of the colon|colonic MALToma|MALToma of colon|colon MALT lymphoma|colonic mucosa-associated lymphoid tissue lymphoma	http://purl.obolibrary.org/obo/MONDO_0006154	UMLS:C1333096|NCIT:C5498	
MONDO:0006155	biolink:Disease	colon neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	NCIT:C5497|EFO:1000188	mondo.json	colon carcinoid tumor|colon neuroendocrine neoplasm G1|colon neuroendocrine tumor G1|colon NET G1|carcinoid tumor of the colon|carcinoid tumor of colon|colon neuroendocrine tumor, well differentiated, low grade|grade 1 neuroendocrine neoplasm of colon|colon carcinoid tumor (disease)|colonic carcinoid tumor	http://purl.obolibrary.org/obo/MONDO_0006155	NCIT:C5497	
MONDO:0006152	biolink:Disease	colon inflammatory polyp	A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis.	EFO:1000184|UMLS:C0267392|NCIT:C5517	mondo.json	colonic inflammatory polyp|inflammatory polyp of the colon|inflammatory polyp of colon	http://purl.obolibrary.org/obo/MONDO_0006152	UMLS:C0267392|NCIT:C5517	
MONDO:0006153	biolink:Disease	colon juvenile polyp	A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.	UMLS:C1333090|EFO:1000185|NCIT:C5518	mondo.json	retention polyp of the colon|juvenile polyp of the colon|juvenile polyp of colon|retention polyp of colon|colon retention polyp|colonic retention polyp|colonic juvenile polyp	http://purl.obolibrary.org/obo/MONDO_0006153	UMLS:C1333090|NCIT:C5518	
HP:0030791	biolink:PhenotypicFeature	Abnormal jaw morphology	A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla.	UMLS:C4280767	mondo.json		http://purl.obolibrary.org/obo/HP_0030791		
MONDO:0006150	biolink:Disease	colon Burkitt lymphoma	A rare Burkitt lymphoma that arises from the colon.	UMLS:C1333083|EFO:1000182|NCIT:C27465	mondo.json	colon Burkitt lymphoma|Burkitts lymphoma of colon|colon Burkitt's lymphoma|primary colon Burkitt's lymphoma|Burkitt lymphoma of colon|colon Burkitts lymphoma	http://purl.obolibrary.org/obo/MONDO_0006150	UMLS:C1333083|NCIT:C27465	
MONDO:0006151	biolink:Disease	colon dysplasia	A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion.	NCIT:C4847|UMLS:C1302363|SCTID:308870004|EFO:1000183	mondo.json	dysplasia of the colon|dysplasia of colon|colonic dysplasia	http://purl.obolibrary.org/obo/MONDO_0006151	NCIT:C4847|UMLS:C1302363|http://identifiers.org/snomedct/308870004	
GO:0043436	biolink:NamedThing	oxoacid metabolic process	The chemical reactions and pathways involving any oxoacid; an oxoacid is a compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons).		mondo.json	keto acid metabolic process|oxo acid metabolic process|ketoacid metabolism|oxoacid metabolism|ketoacid metabolic process|oxo acid metabolism|keto acid metabolism	http://purl.obolibrary.org/obo/GO_0043436		
MONDO:0018147	biolink:Disease	idiopathic macular telangiectasia type 3	A rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease.	UMLS:CN204545|Orphanet:353351|ICD10CM:H35.5	mondo.json	occlusive idiopathic juxtafoveolar retinal telangiectasis	http://purl.obolibrary.org/obo/MONDO_0018147	Orphanet:353351|UMLS:CN204545	ordo_disease
MONDO:0018146	biolink:Disease	idiopathic macular telangiectasia type 1	A rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates.	ICD10CM:H35.5|UMLS:CN204544|Orphanet:353344	mondo.json	visible and exudative idiopathic juxtafoveolar retinal telangiectasis|aneurysmal telangiectasia	http://purl.obolibrary.org/obo/MONDO_0018146	Orphanet:353344|UMLS:CN204544	ordo_disease
NCBITaxon:439490	biolink:OrganismalEntity	unclassified ssRNA viruses		GC_ID:1	mondo.json	unassigned ssRNA viruses	http://purl.obolibrary.org/obo/NCBITaxon_439490		
MONDO:0018149	biolink:Disease	GM1 gangliosidosis	A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.	UMLS:C0085131|Orphanet:354|NCIT:C84739|MESH:D016537|ICD9:277.6|SCTID:124465002|DOID:3322|GARD:0010891	mondo.json	Landing syndrome|GM>1< gangliosidosis|GLB1 deficiency|deficiency of beta-galactosidase|Landing disease|GLB 1 deficiency|Beta-galactosidosis|Beta-galactosidase-1 deficiency|beta-galactosidase deficiency|gangliosidosis GM1|Beta-galactosidase deficiency|Beta galactosidase 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0018149	http://identifiers.org/mesh/D016537|NCIT:C84739|http://identifiers.org/snomedct/124465002|UMLS:C0085131|Orphanet:354|DOID:3322	ordo_disease
MONDO:0018148	biolink:Disease	vasoproliferative tumor of retina	Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported.	UMLS:CN204546|Orphanet:353356	mondo.json	VPTR|vasoproliferative tumor of the ocular fundus|vasoproliferative tumor of ocular fundus|retinal vasoproliferative tumor|vasoproliferative tumor of the retina	http://purl.obolibrary.org/obo/MONDO_0018148	Orphanet:353356|UMLS:CN204546	ordo_disease
MONDO:0018143	biolink:Disease	pyruvate carboxylase deficiency, benign type	Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.	Orphanet:353320|UMLS:CN204540	mondo.json	pyruvate carboxylase deficiency type C	http://purl.obolibrary.org/obo/MONDO_0018143	UMLS:CN204540|Orphanet:353320	ordo_clinical_subtype
MONDO:0018142	biolink:Disease	pyruvate carboxylase deficiency, severe neonatal type	Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.	UMLS:CN204539|Orphanet:353314	mondo.json	pyruvate carboxylase deficiency type B	http://purl.obolibrary.org/obo/MONDO_0018142	UMLS:CN204539|Orphanet:353314	ordo_clinical_subtype
MONDO:0018145	biolink:Disease	congenital retinal arteriovenous communication		Orphanet:353334	mondo.json	congenital arteriovenous communication of the retina|congenital arteriovenous anastomoses of the retina|congenital retinal arteriovenous anastomoses	http://purl.obolibrary.org/obo/MONDO_0018145	Orphanet:353334	ordo_morphological_anomaly
MONDO:0018144	biolink:Disease	congenital myasthenic syndromes with glycosylation defect		Orphanet:353327	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018144	Orphanet:353327	ordo_etiological_subtype
HP:0040126	biolink:PhenotypicFeature	Abnormal vitamin B12 level	A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins.	UMLS:C4021032	mondo.json	Abnormal serum cobalamin level	http://purl.obolibrary.org/obo/HP_0040126		
MONDO:0018130	biolink:Disease	brain dopamine-serotonin vesicular transport disease	Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.	Orphanet:352649|SCTID:717942003|UMLS:C4303546|UMLS:CN204508	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018130	UMLS:CN204508|Orphanet:352649|http://identifiers.org/snomedct/717942003|UMLS:C4303546	ordo_disease
MONDO:0021783	biolink:Disease	streptococcal sore throat	Inflammation of the throat due to Streptococcus pyogenes.	EFO:1002024|ICD9:034.0|UMLS:C0036689|SCTID:43878008|NCIT:C116003	mondo.json	Strept throat|Streptococcal pharyngitis|Strep throat|streptococcal pharyngitis|Septic sore throat|Streptococcal angina|Streptococcal sore throat|strep throat|Streptococcal Pharyngitis	http://purl.obolibrary.org/obo/MONDO_0021783	NCIT:C116003|UMLS:C0036689|http://identifiers.org/snomedct/43878008	
MONDO:0006169	biolink:Disease	complex endometrial hyperplasia	A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent.	ICD9:621.32|UMLS:C0349578|EFO:1000202|SCTID:198322002|NCIT:C35423	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006169	http://identifiers.org/snomedct/198322002|NCIT:C35423|UMLS:C0349578	
MONDO:0006167	biolink:Disease	combined lung carcinoma	A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells.	UMLS:C1333123|EFO:1000200|NCIT:C7591	mondo.json	combined lung cancer|combined carcinoma of lung|combined carcinoma of the lung|combined lung carcinoma	http://purl.obolibrary.org/obo/MONDO_0006167	UMLS:C1333123|NCIT:C7591	
MONDO:0006168	biolink:Disease	obsolete common hematopoietic neoplasm		EFO:1000201	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006168		
MONDO:0006165	biolink:Disease	colorectal squamous cell carcinoma	A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate.	EFO:1000198|NCIT:C43588|UMLS:C1707442	mondo.json	colorectum squamous cell carcinoma|colorectal squamous cell cancer|colorectal squamous cell carcinoma|colorectal (colon or rectal) squamous cell cancer	http://purl.obolibrary.org/obo/MONDO_0006165	UMLS:C1707442|NCIT:C43588	
MONDO:0006166	biolink:Disease	columnar cell hyperplasia of the breast	A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini.	UMLS:C1707446|NCIT:C54183|EFO:1000199	mondo.json	CCH|columnar cell hyperplasia of breast	http://purl.obolibrary.org/obo/MONDO_0006166	UMLS:C1707446|NCIT:C54183	
MONDO:0006163	biolink:Disease	colorectal serrated adenocarcinoma	A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture.	UMLS:C3272809|NCIT:C96485|EFO:1000196|ICDO:8213/3	mondo.json	colorectal serrated adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006163	UMLS:C3272809|NCIT:C96485	
MONDO:0006164	biolink:Disease	colorectal sessile serrated adenoma/polyp	A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability.	EFO:1000197|NCIT:C83176|UMLS:C2826783	mondo.json	colorectal SSA/P|colorectal SSA|colorectal mixed hyperplastic adenomatous polyp|colorectal SSP|colorectal sessile serrated adenoma|colorectal mixed hyperplastic adenomatous polyp/serrated adenoma|colorectal sessile serrated polyp|colorectal sessile serrated adenoma/polyp	http://purl.obolibrary.org/obo/MONDO_0006164	UMLS:C2826783|NCIT:C83176	
MONDO:0006161	biolink:Disease	colorectal juvenile polyp	A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.	NCIT:C5681|EFO:1000194	mondo.json	large bowel juvenile polyp|large intestinal juvenile polyp|juvenile polyp of the large bowel|juvenile polyp of large bowel|colorectal retention polyp	http://purl.obolibrary.org/obo/MONDO_0006161	NCIT:C5681	
NCBITaxon:523103	biolink:OrganismalEntity	Trichophyton mentagrophytes		GC_ID:1	mondo.json	Ctenomyces mentagrophytes|Arthroderma vanbreuseghemii|Microsporon mentagrophytes|Spiralia mentagrophytes|Ectotrichophyton mentagrophytes|Microsporum mentagrophytes|Microides mentagrophytes	http://purl.obolibrary.org/obo/NCBITaxon_523103		
MONDO:0006162	biolink:Disease	colorectal neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	EFO:1000195|UMLS:C3272611|NCIT:C96160	mondo.json	grade 1 neuroendocrine neoplasm of colorectum|colorectum carcinoid tumor|colorectal neuroendocrine tumor G1|large intestinal neuroendocrine tumor G1|colorectum neuroendocrine tumor, well differentiated, low grade|colorectal carcinoid tumor|colorectal NET G1|colorectum neuroendocrine neoplasm G1|colorectum NET G1	http://purl.obolibrary.org/obo/MONDO_0006162	UMLS:C3272611|NCIT:C96160	
MONDO:0006160	biolink:Disease	colorectal hamartoma	A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp.	NCIT:C96474|EFO:1000193|UMLS:C3272801	mondo.json	colorectal hamartoma|colorectum hamartoma (disease)|large intestinal hamartoma	http://purl.obolibrary.org/obo/MONDO_0006160	UMLS:C3272801|NCIT:C96474	
MONDO:0018139	biolink:Disease	obsolete scleredema			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018139		
MONDO:0018136	biolink:Disease	minimal pigment oculocutaneous albinism type 1	Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.	SCTID:237919007|ICD9:270.2|Orphanet:352734|UMLS:CN204521	mondo.json	OCA1-MP|MP OCA type 1	http://purl.obolibrary.org/obo/MONDO_0018136	UMLS:CN204521|Orphanet:352734|http://identifiers.org/snomedct/237919007	ordo_clinical_subtype
MONDO:0021777	biolink:Disease	acute rheumatic heart disease	Pancarditis, involving inflammation of the endocardium, myocardium, and epicardium. It results from an autoimmune reaction following an infection with Streptococcus pyogenes (Group A Streptococci).	SCTID:312591002|UMLS:C0035440|NCIT:C34985|ICD9:391.9|ICD9:391.8	mondo.json	active rheumatic fever with heart involvement|acute rheumatic carditis|acute rheumatic fever with heart involvement|Active rheumatic fever with heart involvement|acute rheumatic heart disease|acute Rheumatic Heart Disease	http://purl.obolibrary.org/obo/MONDO_0021777	NCIT:C34985|http://identifiers.org/snomedct/312591002|UMLS:C0035440	
MONDO:0018135	biolink:Disease	oculocutaneous albinism type 1	Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).	MESH:C537728|UMLS:CN119529|Orphanet:352731|SCTID:765146000|GARD:0004037	mondo.json	oculocutaneous albinism type 1|OCA1|ATN|oculocutaneous albinism, tyrosinase negative	http://purl.obolibrary.org/obo/MONDO_0018135	http://identifiers.org/snomedct/765146000|Orphanet:352731|UMLS:CN119529|http://identifiers.org/mesh/C537728	ordo_disease
MONDO:0018138	biolink:Disease	obsolete ocular albinism with congenital sensorineural hearing loss		UMLS:C1863198|OMIM:103470|Orphanet:352740|DOID:0090100	mondo.json	Waardenburg syndrome/albinism, digenic|digenic Waardenburg syndrome/ocular albinism|autosomal recessive Waardenburg syndrome type 2 with ocular albinism|Waardenburg syndrome/ocular albinism, digenic|ocular albinism with congenital sensorineural deafness|Waardenburg syndrome type 2 with ocular albinism|ocular albinism with sensorineural deafness|albinism, ocular, with sensorineural deafness|WS2-OA|digenic Waardenburg syndrome/albinism|Waardenburg syndrome, type 2, with ocular albinism, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0018138	UMLS:C1863198|Orphanet:352740|DOID:0090100|https://omim.org/entry/103470	ordo_disease
MONDO:0018137	biolink:Disease	temperature-sensitive oculocutaneous albinism type 1	Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas).	UMLS:C1847132|Orphanet:352737|OMIM:606952	mondo.json	TS OCA type 1|OCA1-TS	http://purl.obolibrary.org/obo/MONDO_0018137	UMLS:C1847132|Orphanet:352737	ordo_clinical_subtype
MONDO:0018132	biolink:Disease	obsolete congenital muscular alpha-dystroglycanopathy with brain and eye anomalies	OBSOLETE. Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy.	Orphanet:352687|GARD:0012588|DOID:0111229	mondo.json	MDDGA|lissencephaly type 2 with muscular and ocular involvement	http://purl.obolibrary.org/obo/MONDO_0018132	Orphanet:352687|DOID:0111229	gard_rare|ordo_group_of_disorders
MONDO:0018131	biolink:Disease	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion		Orphanet:352665|UMLS:CN204512	mondo.json	9q21 microdeletion syndrome|Del(9)(q21)	http://purl.obolibrary.org/obo/MONDO_0018131	UMLS:CN204512|Orphanet:352665	ordo_etiological_subtype
MONDO:0018134	biolink:Disease	disorder of melanin metabolism		Orphanet:352728|UMLS:CN227269	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018134	UMLS:CN227269|Orphanet:352728	ordo_group_of_disorders|disease_grouping
MONDO:0018133	biolink:Disease	attenuated Chédiak-Higashi syndrome	Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	ICD10CM:E70.3|UMLS:CN204519|Orphanet:352723|UMLS:C4304022|SCTID:720520009	mondo.json	attenuated Chediak-Higashi syndrome|atypical Chediak-Higashi syndrome|atypical Chédiak-Higashi syndrome	http://purl.obolibrary.org/obo/MONDO_0018133	UMLS:CN204519|Orphanet:352723|http://identifiers.org/snomedct/720520009|UMLS:C4304022	ordo_disease
MONDO:0008839	biolink:Disease	ataxia-microcephaly-cataract syndrome		MESH:C563086|OMIM:208870|UMLS:C0796056	mondo.json	AMC syndrome|ataxia-microcephaly-cataract syndrome	http://purl.obolibrary.org/obo/MONDO_0008839	http://identifiers.org/mesh/C563086|UMLS:C0796056|https://omim.org/entry/208870	
UBERON:0015031	biolink:AnatomicalEntity	pedal digit 1 phalanx endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015031		
MONDO:0008838	biolink:Disease	ataxia - deafness - intellectual disability syndrome	This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit.	OMIM:208850|Orphanet:1188|SCTID:720517001|MESH:C535295|GARD:0004644	mondo.json	ataxia, hearing loss, and mental retardation|Reardon-Baraitser syndrome|ataxia-hearing loss-intellectual disability syndrome|Reardon Wilson Cavanagh syndrome|ataxia, hearing loss, and intellectual disability|familial ataxia, deafness, and developmental delay|ataxia-deafness-retardation syndrome|Adr syndrome	http://purl.obolibrary.org/obo/MONDO_0008838	http://identifiers.org/snomedct/720517001|Orphanet:1188|https://omim.org/entry/208850|http://identifiers.org/mesh/C535295	ordo_malformation_syndrome
MONDO:0008837	biolink:Disease	ataxia, deafness, and cardiomyopathy		UMLS:C1859645|OMIM:208750|MESH:C565932	mondo.json	ataxia, deafness, and cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0008837	UMLS:C1859645|https://omim.org/entry/208750|http://identifiers.org/mesh/C565932	
MONDO:0008836	biolink:Disease	ataxia with myoclonic epilepsy and presenile dementia		UMLS:C1859646|MESH:C565933|OMIM:208700	mondo.json	ataxia with myoclonic epilepsy and presenile dementia	http://purl.obolibrary.org/obo/MONDO_0008836	UMLS:C1859646|https://omim.org/entry/208700|http://identifiers.org/mesh/C565933	
MONDO:0008835	biolink:Disease	asthma, short stature, and elevated IgA		UMLS:C1859647|MESH:C565934|OMIM:208600	mondo.json	asthma, short stature, and elevated IgA	http://purl.obolibrary.org/obo/MONDO_0008835	UMLS:C1859647|https://omim.org/entry/208600|http://identifiers.org/mesh/C565934	
MONDO:0008834	biolink:Disease	asthma, nasal polyps, and aspirin intolerance		OMIM:208550|UMLS:C1859648|DOID:0111579	mondo.json	asthma, nasal polyps, and aspirin intolerance|asthma and nasal polyps|asthma, aspirin-induced, susceptibility to|Asa triad	http://purl.obolibrary.org/obo/MONDO_0008834	UMLS:C1859648|https://omim.org/entry/208550|DOID:0111579	
UBERON:0015030	biolink:AnatomicalEntity	pedal digit phalanx endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015030		
MONDO:0008833	biolink:Disease	renal-hepatic-pancreatic dysplasia 1	Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene.	OMIM:208540|UMLS:C3715199	mondo.json	Rhpd|RHPD1|renal-hepatic-pancreatic dysplasia type 1|NPHP3 renal-hepatic-pancreatic dysplasia|renal-hepatic-pancreatic dysplasia caused by mutation in NPHP3|renal-hepatic-pancreatic dysplasia 1	http://purl.obolibrary.org/obo/MONDO_0008833	UMLS:C3715199|https://omim.org/entry/208540	
MONDO:0008832	biolink:Disease	right atrial isomerism	A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12.	GARD:0006795|DOID:0060856|OMIM:208530|HP:0011536|MedDRA:10068335|Orphanet:97548	mondo.json	asplenia with cardiovascular anomalies|Polyasplenia|right atrial isomerism|right isomerism|Ivemark syndrome|heterotaxy, Visceroatrial, autosomal recessive|asplenia syndrome|right atrial isomerism (disease)|bilateral right-sidedness sequence|Vah, autosomal recessive|RAI|right atrial isomerism (ivemark)|polysplenia syndrome|splenic agenesis syndrome	http://purl.obolibrary.org/obo/MONDO_0008832	DOID:0060856|https://omim.org/entry/208530|Orphanet:97548	ordo_malformation_syndrome
NCBITaxon:9822	biolink:OrganismalEntity	Sus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_9822		
NCBITaxon:9823	biolink:OrganismalEntity	Sus scrofa		GC_ID:1	mondo.json	pigs|wild boar|pig|swine	http://purl.obolibrary.org/obo/NCBITaxon_9823		
MONDO:0008831	biolink:Disease	asphyxiating thoracic dystrophy 1	An asphyxiating thoracic dystrophy associated with variation in the region 15q13.	OMIM:208500|UMLS:CN119532|DOID:0110085	mondo.json	asphyxiating thoracic dystrophy type 1|ATD1|asphyxiating thoracic dystrophy 1|short-rib thoracic dysplasia 1 with or without polydactyly|thoracic-pelvic-phalangeal dystrophy|SRTD1|Jeune syndrome	http://purl.obolibrary.org/obo/MONDO_0008831	UMLS:CN119532|https://omim.org/entry/208500|DOID:0110085	
MONDO:0008830	biolink:Disease	aspartylglucosaminuria	Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).	Orphanet:93|NCIT:C61273|UMLS:C0268225|MESH:D054880|SCTID:54954004|GARD:0005854|MedDRA:10068220|DOID:0050461|OMIM:208400	mondo.json	Aga deficiency|glycosylasparaginase deficiency|Glycoasparaginase|AGU|aspartylglucosaminuria|aspartylglucosaminidase deficiency|Aspartylglucosamidase (AGA) deficiency|aspartylglycosaminuria	http://purl.obolibrary.org/obo/MONDO_0008830	Orphanet:93|UMLS:C0268225|DOID:0050461|https://omim.org/entry/208400|NCIT:C61273|http://identifiers.org/mesh/D054880|http://identifiers.org/snomedct/54954004	ordo_disease
UBERON:0015036	biolink:AnatomicalEntity	pedal digit metatarsal endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015036		
UBERON:0015035	biolink:AnatomicalEntity	pedal digit 5 phalanx endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015035		
UBERON:0015037	biolink:AnatomicalEntity	pedal digit 1 metatarsal endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015037		
UBERON:0003054	biolink:AnatomicalEntity	roof plate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003054		
UBERON:0003055	biolink:AnatomicalEntity	periderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003055		
MONDO:0021808	biolink:Disease	acute cholinergic dysautonomia	A primary dysautonomia characterized by hypohidrosis and selective parasympathetic peripheral autonomic nerve disturbances of acute onset.	UMLS:C2930973|GARD:0009394|MESH:C535672	mondo.json	ACD	http://purl.obolibrary.org/obo/MONDO_0021808	UMLS:C2930973|http://identifiers.org/mesh/C535672	gard_rare
MONDO:0021809	biolink:Disease	primary dysautonomia	Disorders of the autonomic nervous system occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the blood pressure and heart rate.	MESH:D054969	mondo.json	Dysautonomias|primary dysautonomia|dysautonomia, primary|dysautonomia|Dysautonomias, primary	http://purl.obolibrary.org/obo/MONDO_0021809	http://identifiers.org/mesh/D054969	
UBERON:0003052	biolink:AnatomicalEntity	midbrain-hindbrain boundary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003052		
UBERON:0003050	biolink:AnatomicalEntity	olfactory placode			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003050		
HP:0003107	biolink:PhenotypicFeature	Abnormal circulating cholesterol concentration	Any deviation from the normal concentration of cholesterol in the blood circulation.	UMLS:C4025656	mondo.json	Abnormal cholesterol homeostasis|Abnormality of cholesterol metabolism	http://purl.obolibrary.org/obo/HP_0003107		
UBERON:0003051	biolink:AnatomicalEntity	ear vesicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003051		
MONDO:0021804	biolink:Disease	silicotuberculosis	Tuberculosis caused by the infection of Mycobacterium tuberculosis in patients with silicosis (that is caused by inhalation of silica dust particles). The risk of a patient with silicosis developing pulmonary tuberculosis and extra-pulmonary tuberculosis is higher than in healthy population.	UMLS:C0037118|ICD9:502|SCTID:233763009|MESH:D012830	mondo.json	silicotuberculoses|silicotuberculosis	http://purl.obolibrary.org/obo/MONDO_0021804	UMLS:C0037118|http://identifiers.org/snomedct/233763009|http://identifiers.org/mesh/D012830	
UBERON:0003059	biolink:AnatomicalEntity	presomitic mesoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003059		
MONDO:0021805	biolink:Disease	acromesomelic dysplasia, Campailla Martinelli type		GARD:0000505|UMLS:C2930969|MESH:C535659	mondo.json	mesomelic dwarfism Campailla-Martinelli type|acromesomelic dysplasia Campailla Martinelli type	http://purl.obolibrary.org/obo/MONDO_0021805	UMLS:C2930969|http://identifiers.org/mesh/C535659	gard_rare
UBERON:0003056	biolink:AnatomicalEntity	pre-chordal neural plate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003056		
UBERON:0003057	biolink:AnatomicalEntity	chordal neural plate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003057		
UBERON:0015021	biolink:AnatomicalEntity	forelimb endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015021		
MONDO:0008849	biolink:Disease	atrophoderma vermiculata		GARD:0009744|Orphanet:79100|OMIM:209700|ICD9:701.8|SCTID:2736005	mondo.json	folliculitis ulerythematosa reticulata|atrophoderma vermiculata|folliculitis ulerythematosa|Atrophodermia vermiculata|honeycomb atrophy|atrophoderma vermiculatum|Atrophodermia reticulata symmetrica faciei|ava|Atrophodermia reticulata|folliculitis ulerythematosa reticulate	http://purl.obolibrary.org/obo/MONDO_0008849	https://omim.org/entry/209700|http://identifiers.org/snomedct/2736005|Orphanet:79100	gard_rare|ordo_disease
UBERON:0015023	biolink:AnatomicalEntity	phalanx endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015023		
MONDO:0008848	biolink:Disease	atrioventricular dissociation	Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the sinoatrial node and the right atrium (sa block) or between atria and ventricles (av block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects.	HP:0011709|ICD9:426.89|MESH:D006327|SCTID:50799005|OMIM:209600	mondo.json	A-V dissociation|atrioventricular dissociation (disease)|atrioventricular dissociation	http://purl.obolibrary.org/obo/MONDO_0008848	http://identifiers.org/snomedct/50799005|https://omim.org/entry/209600|http://identifiers.org/mesh/D006327	
UBERON:0015022	biolink:AnatomicalEntity	hindlimb endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015022		
MONDO:0008847	biolink:Disease	atrichia with papular lesions	Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.	MESH:C565924|SCTID:715963002|UMLS:C1859592|Orphanet:86819|DOID:0060689|OMIM:209500	mondo.json	atrichia with papular lesions|papular atrichia|APL	http://purl.obolibrary.org/obo/MONDO_0008847	DOID:0060689|UMLS:C1859592|https://omim.org/entry/209500|Orphanet:86819|http://identifiers.org/mesh/C565924|http://identifiers.org/snomedct/715963002	ordo_disease
MONDO:0008846	biolink:Disease	atransferrinemia	Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.	Orphanet:1195|DOID:0050649|GARD:0009595|OMIM:209300|NCIT:C125693|UMLS:C0521802|MESH:C538259|SCTID:111571009	mondo.json	transferrin serum level quantitative trait locus 1|congenital atransferrinemia|congenital hypotransferrinemia|familial hypotransferrinemia|hereditary atransferrinemia|atransferrinemia|hypotransferrinemia, familial	http://purl.obolibrary.org/obo/MONDO_0008846	http://identifiers.org/snomedct/111571009|NCIT:C125693|UMLS:C0521802|http://identifiers.org/mesh/C538259|Orphanet:1195|https://omim.org/entry/209300|DOID:0050649	ordo_disease|gard_rare
MONDO:0008845	biolink:Disease	atonic-astatic syndrome of Foerster		MESH:C565926|OMIM:209100|UMLS:C1859594	mondo.json	atonic-astatic syndrome of Foerster	http://purl.obolibrary.org/obo/MONDO_0008845	UMLS:C1859594|https://omim.org/entry/209100|http://identifiers.org/mesh/C565926	
MONDO:0008844	biolink:Disease	Athrombia, essential		OMIM:209050|UMLS:C1859595|MESH:C565927	mondo.json	Athrombia, essential	http://purl.obolibrary.org/obo/MONDO_0008844	UMLS:C1859595|https://omim.org/entry/209050|http://identifiers.org/mesh/C565927	
HGNC:1228	biolink:NamedThing	SERPING1			mondo.json		http://identifiers.org/hgnc/1228		
MONDO:0008843	biolink:Disease	atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome	Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is characterised by sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed.	OMIM:209010|GARD:0002279|MESH:C565928|SCTID:720519003|Orphanet:1192	mondo.json	Feigenbaum Bergeron Richardson syndrome|Feigenbaum-Bergeron-Richardson syndrome|atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease|premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder	http://purl.obolibrary.org/obo/MONDO_0008843	https://omim.org/entry/209010|Orphanet:1192|http://identifiers.org/mesh/C565928|http://identifiers.org/snomedct/720519003	ordo_malformation_syndrome
UBERON:0015029	biolink:AnatomicalEntity	manual digit 5 phalanx endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015029		
MONDO:0008842	biolink:Disease	ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.	MESH:C538013|UMLS:C1859598|OMIM:208920|DOID:0050754|GARD:0009283|Orphanet:1168	mondo.json	early-onset ataxia with oculomotor apraxia and hypoalbuminemia|ataxia, adult-onset, with oculomotor apraxia|ataxia-oculomotor apraxia 1|ataxia-telangiectasia-like syndrome|ataxia-oculomotor apraxia type 1|EOCA-HA|cerebellar ataxia, early-onset, with hypoalbuminemia|early-onset cerebellar ataxia with hypoalbuminemia|AOA1|EAOH|APTX oculomotor apraxia or related oculomotor disease|ataxia-oculomotor apraxia syndrome|ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia|ataxia with oculomotor apraxia type 1|oculomotor apraxia or related oculomotor disease caused by mutation in APTX	http://purl.obolibrary.org/obo/MONDO_0008842	UMLS:C1859598|http://identifiers.org/mesh/C538013|Orphanet:1168|DOID:0050754|https://omim.org/entry/208920	ordo_disease
MONDO:0008841	biolink:Disease	ataxia-telangiectasia with generalized skin pigmentation and early death		MESH:C565930|OMIM:208910|UMLS:C1859615	mondo.json	ataxia-telangiectasia with generalized skin pigmentation and early death	http://purl.obolibrary.org/obo/MONDO_0008841	UMLS:C1859615|https://omim.org/entry/208910|http://identifiers.org/mesh/C565930	
MONDO:0008840	biolink:Disease	ataxia telangiectasia	Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.	OMIM:208900|Orphanet:100|DOID:12704|MESH:D001260|UMLS:C1876175|NCIT:C2887|MedDRA:10003594|GARD:0005862|UMLS:C0004135|ICD9:334.8|SCTID:68504005	mondo.json	ataxia-telangiectasia|ataxia - telangiectasia|boder-Sedgwick syndrome|Louis-Bar syndrome|ataxia - telangiectasia variant|AT, complementation group E|ataxia telangiectasia syndrome|AT, complementation group D|immunodeficiency with ataxia telangiectasia|AT, complementation group C|Louis Bar syndrome|AT, complementation group A|AT|AT1|cerebello-oculocutaneous telangiectasia|ataxia telangiectasia	http://purl.obolibrary.org/obo/MONDO_0008840	http://identifiers.org/snomedct/68504005|http://identifiers.org/mesh/D001260|Orphanet:100|NCIT:C2887|https://omim.org/entry/208900|DOID:12704|UMLS:C0004135	gard_rare|ordo_disease
UBERON:0015025	biolink:AnatomicalEntity	manual digit 1 phalanx endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015025		
UBERON:0015024	biolink:AnatomicalEntity	manual digit phalanx endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015024		
MONDO:0033809	biolink:Disease	isolated blepharochalasis		Orphanet:519390	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033809	Orphanet:519390	ordo_disease
UBERON:0003041	biolink:AnatomicalEntity	trigeminal nerve fibers			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003041		
HP:0003112	biolink:PhenotypicFeature	Abnormal circulating amino acid concentration	The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.	UMLS:C4025653	mondo.json	Abnormality of serum amino acid levels|Abnormality of serum amino acid level	http://purl.obolibrary.org/obo/HP_0003112		
HP:0003119	biolink:PhenotypicFeature	Abnormal circulating lipid concentration	Any deviation from the normal concentration of a lipid in the blood circulation.	UMLS:C0242339|MSH:D050171|SNOMEDCT_US:370992007|UMLS:C4025650	mondo.json	Dyslipidaemia|Dyslipidemia	http://purl.obolibrary.org/obo/HP_0003119		
HP:0003117	biolink:PhenotypicFeature	Abnormal circulating hormone concentration	An abnormal concentration of a hormone in the blood.	UMLS:C4025652	mondo.json	Abnormal circulating hormone level|Abnormality of circulating hormone level	http://purl.obolibrary.org/obo/HP_0003117		
MONDO:0033810	biolink:Disease	isolated iridoschisis		Orphanet:519392	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033810	Orphanet:519392	ordo_disease
HP:0003111	biolink:PhenotypicFeature	Abnormal blood ion concentration	Abnormality of the homeostasis (concentration) of a monoatomic ion.	UMLS:C4025654|SNOMEDCT_US:237840007|UMLS:C1704431	mondo.json	Electrolyte disturbance|Abnormality of ion homeostasis|Electrolyte disorders	http://purl.obolibrary.org/obo/HP_0003111		
HGNC:1232	biolink:NamedThing	EGLN1			mondo.json		http://identifiers.org/hgnc/1232		
HP:0003110	biolink:PhenotypicFeature	Abnormality of urine homeostasis	An abnormality of the composition of urine or the levels of its components.	UMLS:C4025655	mondo.json	Urine issues|Pee issues	http://purl.obolibrary.org/obo/HP_0003110		
MONDO:0008818	biolink:Disease	arterial tortuosity syndrome	Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.	GARD:0000774|ICD10CM:Q87.82|OMIM:208050|UMLS:C1859726|SCTID:458432002|MESH:C565942|Orphanet:3342|DOID:0050645	mondo.json	arterial tortuosity syndrome|ATS|arterial tortuosity	http://purl.obolibrary.org/obo/MONDO_0008818	DOID:0050645|http://identifiers.org/snomedct/458432002|http://identifiers.org/mesh/C565942|http://purl.bioontology.org/ontology/ICD10CM/Q87.82|Orphanet:3342|UMLS:C1859726|https://omim.org/entry/208050	ordo_malformation_syndrome
MONDO:0033818	biolink:Disease	Terrien marginal degeneration	A distinct marginal thinning of the cornea which causes high degree of against-the-rule astigmatism	Orphanet:519410	mondo.json	Terrien's marginal degeneration	http://purl.obolibrary.org/obo/MONDO_0033818	Orphanet:519410	ordo_disease
UBERON:0015010	biolink:AnatomicalEntity	sacral vertebra endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015010		
MONDO:0008817	biolink:Disease	arterial calcification, generalized, of infancy, 1	An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications.	NCIT:C128805|OMIM:208000	mondo.json	idiopathic infantile arterial calcification|Gaci|arterial calcification of infancy caused by mutation in ENPP1|arterial calcification, generalized, of infancy, type 1|arterial calcification, idiopathic infantile|generalized arterial calcification of infancy 1|arterial calcification, generalized, of infancy, 1|arteriopathy, occlusive infantile|coronary sclerosis, medial, of infancy|ENPP1 arterial calcification of infancy|GACI1	http://purl.obolibrary.org/obo/MONDO_0008817	NCIT:C128805|https://omim.org/entry/208000	
MONDO:0008816	biolink:Disease	Chiari malformation type II	Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.	OMIM:207950|Orphanet:1136|SCTID:373587001|MedDRA:10056945|GARD:0009232	mondo.json	Arnold-Chiari malformation|Arnold Chiari malformation type II|Arnold-Chiari malformation type 2|Arnold-Chiari malformation type II|Chiari malformation type II|Chiari malformation type 2|Cm2|Chiari type II malformation	http://purl.obolibrary.org/obo/MONDO_0008816	https://omim.org/entry/207950|Orphanet:1136|http://identifiers.org/snomedct/373587001	ordo_morphological_anomaly
MONDO:0033816	biolink:Disease	thygeson superficial punctate keratopathy	An insidious, chronic and recurrent disorder, characterized by small and elevated oval corneal intraepithelial, whitish-gray opacities, extending to the entire anterior surface of the cornea of both eyes. Corneal lesions show a tendency for the central pupillary area distribution with mild or absent conjunctival inflammation and no association to systemic disease.	Orphanet:519406	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033816	Orphanet:519406	ordo_disease
MONDO:0008815	biolink:Disease	argininosuccinic aciduria	Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.	GARD:0005843|NCIT:C84569|MedDRA:10058299|MESH:D056807|DOID:14755|UMLS:C0268547|Orphanet:23|SCTID:41013004|OMIM:207900	mondo.json	argininosuccinic acidemia|ASL deficiency|argininosuccinatelyase deficiency|argininosuccinate lyase deficiency|argininosuccinic aciduria|argininosuccinase deficiency|argininosuccinicaciduria|argininosuccinate acidemia|ASA deficiency|arginino succinase deficiency|argininosuccinic acid lyase deficiency|urea cycle disorder, arginino succinase type|arginosuccinase deficiency|deficiency of argininosuccinate lyase|inborn error of urea synthesis, arginino succinic type	http://purl.obolibrary.org/obo/MONDO_0008815	http://identifiers.org/snomedct/41013004|DOID:14755|https://omim.org/entry/207900|Orphanet:23|NCIT:C84569|UMLS:C0268547|http://identifiers.org/mesh/D056807	ordo_disease|gard_rare
UBERON:0017672	biolink:AnatomicalEntity	abdominal viscera			mondo.json		http://purl.obolibrary.org/obo/UBERON_0017672		
MONDO:0008814	biolink:Disease	hyperargininemia	Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.	Orphanet:90|OMIM:207800|GARD:0005840|MESH:D020162|UMLS:C0268548|NCIT:C84568|DOID:9278|MedDRA:10062695|SCTID:23501004	mondo.json	hyperargininemia|arginase deficiency|deficiency of canavanase|Arg1 deficiency|argininemia	http://purl.obolibrary.org/obo/MONDO_0008814	https://omim.org/entry/207800|DOID:9278|Orphanet:90|NCIT:C84568|http://identifiers.org/mesh/D020162|http://identifiers.org/snomedct/23501004|UMLS:C0268548	ordo_disease
MONDO:0008813	biolink:Disease	arachnoid cyst	Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)	MedDRA:10049005|SCTID:33595009|MESH:D016080|UMLS:C0078981|NCIT:C3455|GARD:0000017|Orphanet:2356	mondo.json	arachnoid cysts	http://purl.obolibrary.org/obo/MONDO_0008813	UMLS:C0078981|http://identifiers.org/mesh/D016080|NCIT:C3455|Orphanet:2356|http://identifiers.org/snomedct/33595009	ordo_morphological_anomaly|gard_rare
MONDO:0008812	biolink:Disease	AREDYLD syndrome	AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait.	OMIM:207780|SCTID:237610008|UMLS:C0342280|ICD9:753.3|GARD:0008509|MESH:C537427|Orphanet:1133	mondo.json	acral renal ectodermal dysplasia lipoatrophic diabetes|acrorenal defect-ectodermal dysplasia-diabetes syndrome|AREDYLD|acrorenal Field defect, ectodermal dysplasia, and lipoatrophic diabetes	http://purl.obolibrary.org/obo/MONDO_0008812	https://omim.org/entry/207780|http://identifiers.org/snomedct/237610008|Orphanet:1133|http://identifiers.org/mesh/C537427|UMLS:C0342280	ordo_malformation_syndrome
MONDO:0008811	biolink:Disease	XK aprosencephaly	XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.	OMIM:207770|Orphanet:3469|GARD:0000424|SCTID:277921008|MESH:C536767|UMLS:C0795952	mondo.json	Xk syndrome|aprosencephaly syndrome|Garcia-Lurie syndrome|XK-aprosencephaly|XK-aprosencephaly syndrome|atelencephaly|XK aprosencephaly syndrome|aprosencephaly-atelencephaly syndrome	http://purl.obolibrary.org/obo/MONDO_0008811	https://omim.org/entry/207770|Orphanet:3469|UMLS:C0795952|http://identifiers.org/mesh/C536767|http://identifiers.org/snomedct/277921008	gard_rare|ordo_malformation_syndrome
MONDO:0008810	biolink:Disease	familial apolipoprotein C-II deficiency		OMIM:207750|SCTID:33513003|DOID:0111418|UMLS:C0268199|UMLS:C1720779|Orphanet:309020	mondo.json	hyperlipoproteinemia, type IB|familial apolipoprotein C-II deficiency|Apoc2 deficiency|C-II Anapolipoproteinemia|hyperlipoproteinemia, type 1B|apolipoprotein C-II deficiency|familial apoC-II deficiency	http://purl.obolibrary.org/obo/MONDO_0008810	Orphanet:309020|https://omim.org/entry/207750|UMLS:C1720779|UMLS:C0268199|http://identifiers.org/snomedct/33513003|DOID:0111418	ordo_clinical_subtype
UBERON:0015019	biolink:AnatomicalEntity	rib endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015019		
UBERON:0015014	biolink:AnatomicalEntity	calcaneum endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015014		
UBERON:0015013	biolink:AnatomicalEntity	fibula endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015013		
UBERON:0005695	biolink:AnatomicalEntity	manual digit 5 mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005695		
UBERON:0005691	biolink:AnatomicalEntity	4th arch mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005691		
UBERON:0005690	biolink:AnatomicalEntity	3rd arch mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005690		
MONDO:0033821	biolink:Disease	fungal keratitis		Orphanet:519930	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033821	Orphanet:519930	ordo_disease
HGNC:1247	biolink:NamedThing	C1S			mondo.json		http://identifiers.org/hgnc/1247		
HGNC:1248	biolink:NamedThing	C2			mondo.json		http://identifiers.org/hgnc/1248		
HGNC:1245	biolink:NamedThing	C1QC			mondo.json		http://identifiers.org/hgnc/1245		
UBERON:0003038	biolink:AnatomicalEntity	thoracic spinal cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003038		
HGNC:1246	biolink:NamedThing	C1R			mondo.json		http://identifiers.org/hgnc/1246		
UBERON:0005699	biolink:AnatomicalEntity	pedal digit 5 mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005699		
UBERON:0003037	biolink:AnatomicalEntity	septum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003037		
MONDO:0008809	biolink:Disease	polyneuropathy-hand defect syndrome	Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.	MESH:C535624|GARD:0002589|OMIM:207740|UMLS:C2930955|Orphanet:2926	mondo.json	aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy|polyneuropathy, hand defect|digital extensor muscle aplasia-polyneuropathy|Hamanishi-Ueba-Tsuji syndrome|Hamanishi Ueba Tsuji syndrome|congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0008809	Orphanet:2926|http://identifiers.org/mesh/C535624|https://omim.org/entry/207740|UMLS:C2930955	ordo_malformation_syndrome|gard_rare
HGNC:1241	biolink:NamedThing	C1QA			mondo.json		http://identifiers.org/hgnc/1241		
HGNC:1242	biolink:NamedThing	C1QB			mondo.json		http://identifiers.org/hgnc/1242		
MONDO:0008808	biolink:Disease	aplasia cutis congenita-intestinal lymphangiectasia syndrome	Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.	GARD:0000753|MESH:C537788|OMIM:207731|Orphanet:1116|SCTID:720500008	mondo.json	ACC with intestinal lymphangiectasia|Bronspiegel-Zelnick syndrome|autosomal recessive aplasia cutis|aplasia cutis congenita with intestinal lymphangiectasia|aplasia cutis congenita intestinal lymphangiectasia	http://purl.obolibrary.org/obo/MONDO_0008808	http://identifiers.org/mesh/C537788|https://omim.org/entry/207731|http://identifiers.org/snomedct/720500008|Orphanet:1116	ordo_disease
MONDO:0008829	biolink:Disease	chylous ascites	Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain.	NCIT:C34482|MESH:D002915|OMIM:208300|ICD9:457.8|Orphanet:1160|SCTID:52985009|UMLS:C0008732|GARD:0001359|MedDRA:10003446	mondo.json	congenital chylous ascites|ascites, chylous	http://purl.obolibrary.org/obo/MONDO_0008829	UMLS:C0008732|http://identifiers.org/snomedct/52985009|Orphanet:1160|http://identifiers.org/mesh/D002915|https://omim.org/entry/208300|NCIT:C34482	gard_rare|ordo_disease
MONDO:0008828	biolink:Disease	camptodactyly-arthropathy-coxa vara-pericarditis syndrome	Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.	EFO:0009028|OMIM:208250|MESH:C537560|GARD:0000306|DOID:0090127|Orphanet:2848	mondo.json	hypertrophic synovitis, congenital familial|fibrosing serositis, familial|PAC syndrome|CACP|camptodactyly-arthropathy-coxa-vara-pericarditis syndrome|camptodactyly-arthropathy-pericarditis syndrome|familial fibrosing serositis|arthropathy-camptodactyly syndrome|pericarditis-arthropathy-camptodactyly syndrome|congenital familial hypertrophic synovitis|Jacobs syndrome|camptodactyly arthropathy coxa vara pericarditis syndrome|arthropathy camptodactyly syndrome|pericarditis arthropathy camptodactyly syndrome|camptodactyly-arthropathy-coxa vara-pericarditis syndrome|camptodactyly arthropathy pericarditis syndrome|CACP syndrome	http://purl.obolibrary.org/obo/MONDO_0008828	DOID:0090127|https://omim.org/entry/208250|Orphanet:2848|http://identifiers.org/mesh/C537560	ordo_disease|gard_rare
MONDO:0008827	biolink:Disease	progressive pseudorheumatoid arthropathy of childhood	Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.	ICD9:756.9|OMIM:208230|MESH:C535387|SCTID:254065005|DOID:0090004|Orphanet:1159|GARD:0009184	mondo.json	spondyloepiphyseal dysplasia tarda - progressive arthropathy|progressive pseudorheumatoid chondrodysplasia|spondyloepiphyseal dysplasia tarda with progressive arthropathy|PPD|arthropathy, progressive pseudorheumatoid, of childhood|progressive pseudorheumatoid dysplasia|spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome|SEDT-PA|PPAC|progressive pseudorheumatoid arthropathy of childhood	http://purl.obolibrary.org/obo/MONDO_0008827	http://identifiers.org/mesh/C535387|http://identifiers.org/snomedct/254065005|Orphanet:1159|https://omim.org/entry/208230|DOID:0090004	ordo_disease
UBERON:0015001	biolink:AnatomicalEntity	radius endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015001		
MONDO:0008826	biolink:Disease	arthrogryposis-hyperkeratosis syndrome, lethal form	Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.	OMIM:208158|MESH:C535883|SCTID:726620005|Orphanet:1485|UMLS:C1859710|GARD:0003053	mondo.json	Johnston Aarons Schelley syndrome|Johnston-Aarons-Schelley syndrome|arthrogryposis with hyperkeratosis|Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns	http://purl.obolibrary.org/obo/MONDO_0008826	http://identifiers.org/mesh/C535883|http://identifiers.org/snomedct/726620005|UMLS:C1859710|https://omim.org/entry/208158|Orphanet:1485	ordo_malformation_syndrome
MONDO:0008825	biolink:Disease	arthrogryposis multiplex congenita-whistling face syndrome	Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.	GARD:0000792|MESH:C538401|OMIM:208155|Orphanet:1150|UMLS:C1859711|SCTID:720514008	mondo.json	arthrogryposis multiplex congenita whistling face|Illum syndrome|lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system|arthrogryposis, whistling face, and developmental retardation|arthrogryposis, whistling face, and developintellectual disability|ILLUM syndrome	http://purl.obolibrary.org/obo/MONDO_0008825	UMLS:C1859711|http://identifiers.org/mesh/C538401|Orphanet:1150|https://omim.org/entry/208155|http://identifiers.org/snomedct/720514008	ordo_malformation_syndrome
MONDO:0008824	biolink:Disease	fetal akinesia deformation sequence	Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes.	GARD:0009634|ICD9:754.89|DOID:0111375|NCIT:C129071|SCTID:401138005|MESH:C536647|OMIMPS:208150	mondo.json	arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome|arthrogryposis multiplex congenita with pulmonary hypoplasia|FADS|fetal akinesia sequence|fetal akinesia deformation sequence	http://purl.obolibrary.org/obo/MONDO_0008824	http://identifiers.org/snomedct/401138005|NCIT:C129071|https://omim.org/phenotypicSeries/PS208150|DOID:0111375|http://identifiers.org/mesh/C536647	gard_rare|ordo_malformation_syndrome
MONDO:0008823	biolink:Disease	arthrogryposis multiplex congenita 2, neurogenic type	Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.	Orphanet:1143|GARD:0000790|SCTID:715316005|MESH:C536614|UMLS:C1859721|DOID:0090124|OMIM:617468|OMIM:208100	mondo.json	AMC neurogenic type|AMCN|arthrogryposis multiplex congenita neurogenic type|neurogenic arthrogryposis multiplex congenita|neurogenic type of AMC|AMC, neurogenic type|arthrogryposis multiplex congenita, neurogenic type	http://purl.obolibrary.org/obo/MONDO_0008823	UMLS:C1859721|Orphanet:1143|https://omim.org/entry/208100|http://identifiers.org/mesh/C536614|http://identifiers.org/snomedct/715316005|DOID:0090124	ordo_disease
MONDO:0008822	biolink:Disease	arthrogryposis, renal dysfunction, and cholestasis 1	Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene.	DOID:0111353|OMIM:208085	mondo.json	arthrogryposis, renal dysfunction, and cholestasis type 1|arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B|VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome|Arc syndrome|arthrogryposis, renal dysfunction, and cholestasis 1|ARCS1	http://purl.obolibrary.org/obo/MONDO_0008822	https://omim.org/entry/208085|DOID:0111353	
MONDO:0008821	biolink:Disease	arthrogryposis, distal, with intellectual disability and characteristic facies		UMLS:C1859723|MESH:C565940|OMIM:208081	mondo.json	arthrogryposis, distal, with mental retardation and characteristic facies|arthrogryposis, distal, with intellectual disability and characteristic facies	http://purl.obolibrary.org/obo/MONDO_0008821	UMLS:C1859723|https://omim.org/entry/208081|http://identifiers.org/mesh/C565940	
UBERON:0015007	biolink:AnatomicalEntity	cervical vertebra endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015007		
MONDO:0008820	biolink:Disease	obsolete arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008820		
UBERON:0015009	biolink:AnatomicalEntity	lumbar vertebra endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015009		
UBERON:0015008	biolink:AnatomicalEntity	thoracic vertebra endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015008		
UBERON:0015003	biolink:AnatomicalEntity	ulna endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015003		
UBERON:0015002	biolink:AnatomicalEntity	radius-ulna endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015002		
UBERON:0015004	biolink:AnatomicalEntity	tibia endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015004		
HP:0030764	biolink:PhenotypicFeature	Ochronosis	Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved.	MSH:D009794|UMLS:C0028817|SNOMEDCT_US:410042009	mondo.json		http://purl.obolibrary.org/obo/HP_0030764		
NCBITaxon:9821	biolink:OrganismalEntity	Suidae		GC_ID:1	mondo.json	pigs|boars	http://purl.obolibrary.org/obo/NCBITaxon_9821		
UBERON:0005689	biolink:AnatomicalEntity	2nd arch mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005689		
UBERON:0005688	biolink:AnatomicalEntity	lens vesicle cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005688		
UBERON:0005687	biolink:AnatomicalEntity	orbitosphenoid cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005687		
UBERON:0005686	biolink:AnatomicalEntity	caecum dorsal mesentery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005686		
UBERON:0003023	biolink:AnatomicalEntity	pontine tegmentum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003023		
MONDO:0008819	biolink:Disease	arteriosclerosis, severe juvenile		UMLS:C1859725|MESH:C565941|OMIM:208060	mondo.json	arteriosclerosis, severe juvenile	http://purl.obolibrary.org/obo/MONDO_0008819	http://identifiers.org/mesh/C565941|UMLS:C1859725|https://omim.org/entry/208060	
UBERON:0005685	biolink:AnatomicalEntity	midgut dorsal mesentery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005685		
MONDO:0006219	biolink:Disease	gallbladder small cell neuroendocrine carcinoma	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells.	EFO:1000266|NCIT:C6763|UMLS:C1333759|DOID:7133	mondo.json	Oat cell carcinoma of the gallbladder|small cell carcinoma of the gallbladder|small cell carcinoma of gallbladder|gallbladder small cell carcinoma|small cell carcinoma of gall bladder|gallbladder Oat cell carcinoma|gall bladder small cell carcinoma|Oat cell carcinoma of gallbladder|gallbladder small cell neuroendocrine carcinoma|gallbladder small cell NEC	http://purl.obolibrary.org/obo/MONDO_0006219	DOID:7133|UMLS:C1333759|NCIT:C6763	
UBERON:0015078	biolink:AnatomicalEntity	proximal carpal endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015078		
MONDO:0006217	biolink:Disease	gallbladder adenosquamous carcinoma	A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components.	DOID:5627|NCIT:C7356|ONCOTREE:GBASC|EFO:1000264|UMLS:C1333741	mondo.json	gallbladder adenosquamous cancer|adenosquamous carcinoma of the gallbladder|adenosquamous carcinoma of gallbladder|gallbladder adenosquamous carcinoma|GBASC|gall bladder adenosquamous carcinoma|adenosquamous gallbladder carcinoma	http://purl.obolibrary.org/obo/MONDO_0006217	UMLS:C1333741|DOID:5627|NCIT:C7356	
MONDO:0008879	biolink:Disease	Bowen-Conradi syndrome	Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.	ICD9:759.89|MESH:C537081|DOID:0050684|GARD:0005950|UMLS:C1859405|OMIM:211180|Orphanet:1270|SCTID:711153001	mondo.json	BWCNS|Bowen-Conradi syndrome|Bowen syndrome, Hutterite type|Bowen-Conradi Hutterite syndrome|Bowen Hutterite syndrome (formerly)|Bowen Hutterite syndrome, formerly|Bowen Hutterite syndrome	http://purl.obolibrary.org/obo/MONDO_0008879	http://identifiers.org/mesh/C537081|Orphanet:1270|DOID:0050684|https://omim.org/entry/211180|http://identifiers.org/snomedct/711153001|UMLS:C1859405	gard_rare|ordo_malformation_syndrome
MONDO:0006218	biolink:Disease	gallbladder biliary intraepithelial neoplasia	A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity.	NCIT:C43606|EFO:1000265|UMLS:C1708174	mondo.json	intracystic BilIN|gallbladder biliary intraepithelial neoplasia|gallbladder BilIN|gallbladder intraepithelial neoplasia|gallbladder dysplasia|intracystic biliary intraepithelial neoplasia	http://purl.obolibrary.org/obo/MONDO_0006218	UMLS:C1708174|NCIT:C43606	
MONDO:0021851	biolink:Disease	alopecia universalis onychodystrophy vitiligo	A syndrome characterized by total alopecia (hair loss), total vitíligo, and nail changes. The nail changes consist of fine pitting, associated with softness, and friability and may include horizontal splitting. The vitiligo is characterized by complete, rapid uniform loss of pigment which occurrs without going through a patchy state. The entire cutaneous surface is light and translucent-appearing and is prone to burning on exposure to the sun.	MESH:C537056|GARD:0000615|UMLS:C2931408	mondo.json	alopecia universalis, onychodystrophy, and total vitiligo	http://purl.obolibrary.org/obo/MONDO_0021851	UMLS:C2931408|http://identifiers.org/mesh/C537056	gard_rare
MONDO:0008878	biolink:Disease	bone dysplasia, lethal Holmgren type	Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988.	GARD:0000922|MESH:C565896|OMIM:211120|SCTID:732249002|Orphanet:1842|UMLS:C1859407	mondo.json	autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type|bone dysplasia lethal Holmgren type|bone dysplasia, lethal, Holmgren type	http://purl.obolibrary.org/obo/MONDO_0008878	https://omim.org/entry/211120|Orphanet:1842|http://identifiers.org/mesh/C565896|http://identifiers.org/snomedct/732249002|UMLS:C1859407	gard_rare|ordo_malformation_syndrome
NCBITaxon:7205	biolink:OrganismalEntity	Tabanidae		GC_ID:1	mondo.json	horseflies|deerflies|horseflies and deerflies	http://purl.obolibrary.org/obo/NCBITaxon_7205		
MONDO:0006215	biolink:Disease	gallbladder adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the gall bladder.	DOID:3500|UMLS:C0279651|EFO:1000262|NCIT:C9166	mondo.json	gallbladder adenocarcinoma|gall bladder adenocarcinoma|adenocarcinoma of the gallbladder|adenocarcinoma of gallbladder	http://purl.obolibrary.org/obo/MONDO_0006215	UMLS:C0279651|NCIT:C9166|DOID:3500	
MONDO:0006216	biolink:Disease	gallbladder adenoma	A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary.	EFO:1000263|DOID:0050893|UMLS:C0238137|NCIT:C7720	mondo.json	adenoma of the gallbladder|adenoma of gallbladder|gallbladder adenoma|gall bladder adenoma	http://purl.obolibrary.org/obo/MONDO_0006216	UMLS:C0238137|DOID:0050893|NCIT:C7720	
MONDO:0008877	biolink:Disease	blue diaper syndrome	Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria.	Orphanet:94086|OMIM:211000|MESH:C536239|SCTID:59531002|UMLS:C0268478|GARD:0005939	mondo.json	familial hypercalcemia-nephrocalcinosis-indicanuria syndrome|hypercalcemia, familial, with nephrocalcinosis and indicanuria|blue diaper syndrome|Drummond syndrome	http://purl.obolibrary.org/obo/MONDO_0008877	http://identifiers.org/snomedct/59531002|http://identifiers.org/mesh/C536239|https://omim.org/entry/211000|Orphanet:94086|UMLS:C0268478	gard_rare|ordo_disease
MONDO:0006213	biolink:Disease	floor of mouth mucoepidermoid carcinoma	A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth.	EFO:1000260|NCIT:C8178|UMLS:C0280310	mondo.json	mouth floor mucoepidermoid carcinoma|mucoepidermoid carcinoma of floor of mouth|mucoepidermoid carcinoma of the floor of mouth	http://purl.obolibrary.org/obo/MONDO_0006213	NCIT:C8178|UMLS:C0280310	
MONDO:0008876	biolink:Disease	Bloom syndrome	Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.	UMLS:C0005859|Orphanet:125|SCTID:4434006|NCIT:C2903|ICD9:757.39|MESH:D001816|DOID:2717|GARD:0000915|ICD10CM:Q82.2|OMIM:210900	mondo.json	congenital telangiectatic erythema syndrome|microcephaly, growth restriction, and increased sister chromatid exchange 1|congenital telangiectatic erythema|growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability|BLS|Bloom syndrome|BSyn|BS|Bloom-Torre-Machacek syndrome|BLM|MGRISCE1	http://purl.obolibrary.org/obo/MONDO_0008876	Orphanet:125|NCIT:C2903|http://identifiers.org/mesh/D001816|http://identifiers.org/snomedct/4434006|DOID:2717|https://omim.org/entry/210900|UMLS:C0005859	ordo_disease|gard_rare
MONDO:0008875	biolink:Disease	blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome	Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive.	SCTID:717914000|Orphanet:2057|MESH:C536235|GARD:0000905|OMIM:210745	mondo.json	Frydman-Cohen-Karmon syndrome|blepharophimosis with ptosis, syndactyly, and short stature|blepharophimosis - ptosis - esotropia - syndactyly - short stature|Frydman Cohen Karmon syndrome	http://purl.obolibrary.org/obo/MONDO_0008875	http://identifiers.org/snomedct/717914000|http://identifiers.org/mesh/C536235|https://omim.org/entry/210745|Orphanet:2057	ordo_malformation_syndrome
MONDO:0006214	biolink:Disease	follicular variant thyroid gland papillary carcinoma	A nonencapsulated variant of papillary carcinoma of the thyroid gland characterized by the predominance of follicular structures. The malignant follicular cells display the nuclear features that characterize the papillary adenocarcinomas of the thyroid gland.	NCIT:C126594|UMLS:C3714651|EFO:1000261	mondo.json	FVPTC	http://purl.obolibrary.org/obo/MONDO_0006214	UMLS:C3714651|NCIT:C126594	
UBERON:0003091	biolink:AnatomicalEntity	thyroid primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003091		
MONDO:0008874	biolink:Disease	Bangstad syndrome	Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.	MESH:C537902|SCTID:237614004|UMLS:C0342284|Orphanet:1227|GARD:0000812|OMIM:210740|ICD9:759.89	mondo.json	Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency|Bangstad syndrome|ataxia-diabetes-goiter-gonadal insufficiency syndrome|Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency	http://purl.obolibrary.org/obo/MONDO_0008874	Orphanet:1227|http://identifiers.org/mesh/C537902|UMLS:C0342284|http://identifiers.org/snomedct/237614004|https://omim.org/entry/210740	gard_rare|ordo_malformation_syndrome
MONDO:0006211	biolink:Disease	fibrous hamartoma of infancy	A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern.	EFO:1000257|NCIT:C3942|UMLS:C0265979|ICD9:215.9|SCTID:56364004	mondo.json	fibrous hamartoma|fibrous hamartoma of infancy|infantile fibrous hamartoma	http://purl.obolibrary.org/obo/MONDO_0006211	NCIT:C3942|UMLS:C0265979|http://identifiers.org/snomedct/56364004	
MONDO:0008873	biolink:Disease	microcephalic osteodysplastic primordial dwarfism, type 3		MESH:C537320|OMIM:210730|UMLS:C1859439	mondo.json	microcephalic osteodysplastic primordial dwarfism, type III|microcephalic osteodysplastic primordial dwarfism, Caroline Crachami type|Mopd, Caroline Crachami type|Mopd 3|osteodysplastic primordial dwarfism, type 3|Mopd, Sicilian fairy type|microcephalic osteodysplastic primordial dwarfism, Sicilian fairy type	http://purl.obolibrary.org/obo/MONDO_0008873	http://identifiers.org/mesh/C537320|https://omim.org/entry/210730|UMLS:C1859439	
MONDO:0006212	biolink:Disease	flat urothelial hyperplasia	A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003	NCIT:C27878|EFO:1000259	mondo.json	flat urothelial hyperplasia	http://purl.obolibrary.org/obo/MONDO_0006212	NCIT:C27878	
MONDO:0008872	biolink:Disease	microcephalic osteodysplastic primordial dwarfism type II	A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.	SCTID:254103003|Orphanet:2637|DOID:0060609|GARD:0009844|OMIM:210720|MESH:C565898	mondo.json	microcephalic osteodysplastic primordial dwarfism type 2|osteodysplastic primordial dwarfism type II|MOPD2|Mopd 2|microcephalic osteodysplastic primordial dwarfism, type 2|microcephalic osteodysplastic primordial dwarfism with tooth abnormalities|microcephalic osteodysplastic primordial dwarfism, type II|MOPD II|osteodysplastic primordial dwarfism, type 2|osteodysplastic primordial dwarfism type 2|Majewski osteodysplastic primordial dwarfism type II|MOPD type II	http://purl.obolibrary.org/obo/MONDO_0008872	Orphanet:2637|http://identifiers.org/mesh/C565898|https://omim.org/entry/210720|DOID:0060609|http://identifiers.org/snomedct/254103003	ordo_malformation_syndrome|gard_rare
MONDO:0006210	biolink:Disease	fibrolamellar hepatocellular carcinoma	A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers.	EFO:1000256|SCTID:253018005|GARD:0009396|MESH:C537258|Orphanet:401920|DOID:5015|ICDO:8171/3|NCIT:C4131|ONCOTREE:FLC|UMLS:C0334287	mondo.json	fibrolamellar carcinoma of liver cells|liver cell fibrolamellar carcinoma|hepatocellular carcinoma, fibrolamellar|fibrolamellar hepatocellular carcinoma|FHCC|eosinophilic hepatocellular carcinoma with lamellar fibrosis|oncocytic hepatocellular tumor|fibrolamellar carcinoma|fibrolamellar variant of hepatocellular carcinoma|fibrolamellar hepatocarcinoma|FLC|polygonal cell hepatocellular carcinoma with fibrous stroma|hepatocellular fibrolamellar carcinoma|fibrolamellar oncocytic hepatoma|hepatocellular carcinoma (fibrolamellar variant)|eosinophilic glassy cell hepatoma|hepatocellular carcinoma with increased stromal fibrosis|FL-HCC|polygonal cell type hepatocellular carcinoma with fibrous Stroma|fibrolamellar cancer|fibrolamellar carcinoma of the liver cells	http://purl.obolibrary.org/obo/MONDO_0006210	Orphanet:401920|DOID:5015|http://identifiers.org/mesh/C537258|NCIT:C4131|UMLS:C0334287|http://identifiers.org/snomedct/253018005	ordo_disease
MONDO:0008871	biolink:Disease	microcephalic osteodysplastic primordial dwarfism type I	A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits.	DOID:0060608|OMIM:210710|SCTID:254102008	mondo.json	osteodysplastic primordial dwarfism type I|Taybi-Linder syndrome|cephaloskeletal dysplasia|MOPD1|microcephalic osteodysplastic primordial dwarfism, type I|Cephaloskeletal dysplasia|MOPD 1|low-birth-weight dwarfism with skeletal dysplasia|microcephalic osteodysplastic primordial dwarfism, type 1|brachymelic primordial dwarfism|osteodysplastic primordial dwarfism, type 1|Brachymelic primordial dwarfism	http://purl.obolibrary.org/obo/MONDO_0008871	DOID:0060608|https://omim.org/entry/210710|http://identifiers.org/snomedct/254102008	
UBERON:0015079	biolink:AnatomicalEntity	proximal carpal cartilage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015079		
MONDO:0008870	biolink:Disease	bird headed-dwarfism, Montreal type	Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.	MESH:C535448|GARD:0000895|Orphanet:2617|OMIM:210700|UMLS:C1859468	mondo.json	Bird-headed dwarfism, Montreal type|premature senility, premature graying and loss of scalp hair and wrinkled skin of the palms|Bird-headed dwarfism with features of premature senility|microcephalic primordial dwarfism, Montreal type	http://purl.obolibrary.org/obo/MONDO_0008870	http://identifiers.org/mesh/C535448|https://omim.org/entry/210700|UMLS:C1859468|Orphanet:2617	ordo_malformation_syndrome
UBERON:0003098	biolink:AnatomicalEntity	optic stalk			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003098		
MONDO:0018209	biolink:Disease	Alexander disease type I	Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.	Orphanet:363717|UMLS:CN204729	mondo.json	AxD type I	http://purl.obolibrary.org/obo/MONDO_0018209	UMLS:CN204729|Orphanet:363717	ordo_clinical_subtype
UBERON:0003099	biolink:AnatomicalEntity	cranial neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003099		
HGNC:1260	biolink:NamedThing	CFAP410			mondo.json		http://identifiers.org/hgnc/1260		
MONDO:0018206	biolink:Disease	childhood-onset autosomal recessive myopathy with external ophthalmoplegia		Orphanet:363677	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018206	Orphanet:363677	ordo_disease
MONDO:0018205	biolink:Disease	distal monosomy 1q	1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.	OMIM:612337|UMLS:C4273897|SCTID:717633007|Orphanet:36367	mondo.json	monosomy 1qter|distal monosomy type 1q|distal deletion 1q|telomeric deletion 1q	http://purl.obolibrary.org/obo/MONDO_0018205	UMLS:C4273897|Orphanet:36367|http://identifiers.org/snomedct/717633007	ordo_malformation_syndrome
MONDO:0018208	biolink:Disease	neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		UMLS:CN204726|Orphanet:363700	mondo.json	Von Recklinghausen disease due to NF1 mutation or intragenic deletion	http://purl.obolibrary.org/obo/MONDO_0018208	Orphanet:363700|UMLS:CN204726	ordo_etiological_subtype
MONDO:0018207	biolink:Disease	2p13.2 microdeletion syndrome	2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.	UMLS:CN204723|Orphanet:363680	mondo.json	Del(2)(p13.2)	http://purl.obolibrary.org/obo/MONDO_0018207	Orphanet:363680|UMLS:CN204723	ordo_malformation_syndrome
MONDO:0018202	biolink:Disease	gonadal germ cell tumor		UMLS:CN204712|Orphanet:363582	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018202	Orphanet:363582|UMLS:CN204712	disease_grouping|ordo_group_of_disorders
NCBITaxon:7214	biolink:OrganismalEntity	Drosophilidae		GC_ID:1	mondo.json	pomace flies	http://purl.obolibrary.org/obo/NCBITaxon_7214		
MONDO:0018201	biolink:Disease	extragonadal germ cell tumor	A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum).	UMLS:CN204711|NCIT:C3918|UMLS:C0262963|GARD:0009325|Orphanet:363579	mondo.json	tumor of extragonadal germ cell|tumor of the extragonadal germ cell|neoplasm of extragonadal germ cell|neoplasm of the extragonadal germ cell|extragonadal germ cell tumor|primary extragonadal germ cell tumor|extragonadal germ cell neoplasm|extragonadal germ cell neoplasms	http://purl.obolibrary.org/obo/MONDO_0018201	Orphanet:363579|UMLS:C0262963|UMLS:CN204711|NCIT:C3918	disease_grouping|ordo_group_of_disorders
MONDO:0021845	biolink:Disease	Aloi Tomasini Isaia syndrome	A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization. This is an n-of-1 use case where only one patient or family has been described with this disorder.	MESH:C537049|UMLS:C2931405|GARD:0000417|GARD:0000831	mondo.json	unilateral linear basal cell nevus associated with diffuse osteoma cutis, unilateral anodontia, and abnormal bone mineralization|basal cell nevus, anodontia, abnormal bone mineralization|basal cell nevus anodontia abnormal bone mineralization	http://purl.obolibrary.org/obo/MONDO_0021845	UMLS:C2931405|http://identifiers.org/mesh/C537049	n_of_one|gard_rare
MONDO:0018204	biolink:Disease	20q11.2 microduplication syndrome	20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features.	SCTID:763061004|UMLS:CN204718|Orphanet:363659	mondo.json	dup(20)(q11.2)	http://purl.obolibrary.org/obo/MONDO_0018204	Orphanet:363659|http://identifiers.org/snomedct/763061004|UMLS:CN204718	ordo_malformation_syndrome
MONDO:0018203	biolink:Disease	LMNA-related cardiocutaneous progeria syndrome	A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.	UMLS:CN204714|Orphanet:363618	mondo.json	LCPS	http://purl.obolibrary.org/obo/MONDO_0018203	Orphanet:363618|UMLS:CN204714	ordo_disease
HGNC:1268	biolink:NamedThing	TSPEAR			mondo.json		http://identifiers.org/hgnc/1268		
MONDO:0021849	biolink:Disease	obsolete alopecia macular degeneration growth retardation syndrome		MESH:C538125|GARD:0000610|DOID:0111649|OMIM:225280	mondo.json	alopecia, macular degeneration, and growth retardation|alopecia macular degeneration growth retardation	http://purl.obolibrary.org/obo/MONDO_0021849		gard_rare
MONDO:0018200	biolink:Disease	obsolete acute encephalopathy with inflammation-mediated status epilepticus		Orphanet:363567	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018200	Orphanet:363567	disease_grouping|ordo_group_of_disorders
UBERON:0015064	biolink:AnatomicalEntity	autopod cartilage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015064		
MONDO:0006228	biolink:Disease	gastric papillary adenocarcinoma	A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores.	EFO:1000276|NCIT:C5472|ONCOTREE:PSTAD|UMLS:C1333785|DOID:5593	mondo.json	papillary stomach adenocarcinoma|papillary adenocarcinoma of the stomach|gastric papillary adenocarcinoma|stomach papillary adenocarcinoma|papillary adenocarcinoma of stomach	http://purl.obolibrary.org/obo/MONDO_0006228	UMLS:C1333785|DOID:5593|NCIT:C5472	
UBERON:0015061	biolink:AnatomicalEntity	limb endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015061		
MONDO:0006229	biolink:Disease	gastric small cell neuroendocrine carcinoma	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells.	UMLS:C1333788|EFO:1000277|NCIT:C6764|ONCOTREE:STSC|DOID:6552	mondo.json	gastric small cell neuroendocrine carcinoma|small cell carcinoma of the stomach|gastric small cell carcinoma|Oat cell carcinoma of the stomach|Oat cell carcinoma of stomach|gastric Oat cell carcinoma|STSC|stomach small cell carcinoma|small cell carcinoma of stomach	http://purl.obolibrary.org/obo/MONDO_0006229	DOID:6552|UMLS:C1333788|NCIT:C6764	
UBERON:0015060	biolink:AnatomicalEntity	sphenoid endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015060		
MONDO:0006226	biolink:Disease	gastric mucosa-associated lymphoid tissue lymphoma	A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy.	EFO:1000274|UMLS:C1333782|NCIT:C5266	mondo.json	gastric MALToma|MALToma of the stomach|MALToma of stomach|gastric mucosa-associated lymphoid tissue lymphoma|primary gastric MALT lymphoma|gastric MALT lymphoma|MALT lymphoma of the stomach|MALT lymphoma of stomach|primary MALT lymphoma of the stomach|primary MALT lymphoma of stomach|primary gastric B-cell MALT lymphoma|stomach MALT lymphoma	http://purl.obolibrary.org/obo/MONDO_0006226	UMLS:C1333782|NCIT:C5266	
MONDO:0008889	biolink:Disease	thromboangiitis obliterans	Buerger disease, also known as thromboangiitis obliterans (TAO), is a rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco.	SCTID:52403007|GARD:0005969|MESH:D013919|MedDRA:10043540|EFO:1001211|DOID:12918|ICD9:443.1|OMIM:211480|NCIT:C35070|UMLS:C0040021|Orphanet:36258	mondo.json	inflammatory occlusive peripheral vascular disease|TAO|BUERGER disease|presenile gangrene|thromboangiitis obliterans|thromboangiitis obliterans [Buerger's disease]|occlusive peripheral vascular disease|Buerger's disease	http://purl.obolibrary.org/obo/MONDO_0008889	UMLS:C0040021|http://identifiers.org/mesh/D013919|https://omim.org/entry/211480|Orphanet:36258|DOID:12918|http://identifiers.org/snomedct/52403007|NCIT:C35070	ordo_disease
UBERON:0015063	biolink:AnatomicalEntity	autopod endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015063		
NCBITaxon:7215	biolink:OrganismalEntity	Drosophila <flies,genus>		GC_ID:1	mondo.json	Drosophila|fruit fly|fruit flies	http://purl.obolibrary.org/obo/NCBITaxon_7215		
MONDO:0008888	biolink:Disease	Williams-Campbell syndrome		GARD:0007791|Orphanet:411501|OMIM:211450|ICD9:748.3|SCTID:54203008	mondo.json	BRONCHOMALACIA|Williams-Campbell syndrome|tracheobronchomalacia	http://purl.obolibrary.org/obo/MONDO_0008888	Orphanet:411501|http://identifiers.org/snomedct/54203008|https://omim.org/entry/211450	ordo_morphological_anomaly
MONDO:0006227	biolink:Disease	gastric neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic.	EFO:1000275|NCIT:C4635|UMLS:C0349529	mondo.json	gastric NET G1|stomach carcinoid tumor|gastric ECL cell NET G1|stomach neuroendocrine neoplasm G1|gastric ECL cell, histamine-producing NET|gastric carcinoid tumor|gastric ECL-cell carcinoid tumor|stomach NET G1|gastric enterochromaffin-like cell carcinoid tumor|gastric enterochromaffin-like cell neuroendocrine tumor|grade 1 neuroendocrine neoplasm of stomach|gastric ECL cell NET|stomach neuroendocrine tumor, well differentiated, low grade	http://purl.obolibrary.org/obo/MONDO_0006227	UMLS:C0349529|NCIT:C4635	
MONDO:0008887	biolink:Disease	bronchiectasis with or without elevated sweat chloride 1		MESH:C567618|DOID:0080526|OMIM:211400|UMLS:C2749757	mondo.json	bronchiectasis with or without elevated sweat chloride type 1|cystic fibrosis-like syndrome|BESC1|bronchiectasis with or without elevated sweat chloride 1, modifier of|bronchiectasis with or without elevated sweat chloride 1	http://purl.obolibrary.org/obo/MONDO_0008887	http://identifiers.org/mesh/C567618|DOID:0080526|https://omim.org/entry/211400|UMLS:C2749757	
MONDO:0006224	biolink:Disease	gastric hamartomatous polyp	A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations.	UMLS:C0341225|EFO:1000271|NCIT:C4373|SCTID:235685007	mondo.json	gastric hamartomatous polyp|hamartoma of the stomach|hamartoma of stomach|stomach hamartoma (disease)	http://purl.obolibrary.org/obo/MONDO_0006224	http://identifiers.org/snomedct/235685007|UMLS:C0341225|NCIT:C4373	
MONDO:0006225	biolink:Disease	gastric mantle cell lymphoma	A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course.	UMLS:C1333780|EFO:1000272|NCIT:C27440	mondo.json	mantle cell lymphoma of the stomach|mantle cell lymphoma of stomach|gastric mantle cell lymphoma|stomach mantle cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0006225	UMLS:C1333780|NCIT:C27440	
MONDO:0008886	biolink:Disease	Sabinas brittle hair syndrome		GARD:0000313|OMIM:211390|Orphanet:3123|MESH:C536320|UMLS:C0796271	mondo.json	Sabinas brittle hair syndrome|Sabinas syndrome|brittle hair and mental Deficit|brittle hair syndrome, Sabinas type	http://purl.obolibrary.org/obo/MONDO_0008886	http://identifiers.org/mesh/C536320|https://omim.org/entry/211390|UMLS:C0796271	gard_rare
UBERON:0003080	biolink:AnatomicalEntity	anterior neural tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003080		
MONDO:0006222	biolink:Disease	gastric choriocarcinoma	A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases.	NCIT:C95749|UMLS:C2987398|EFO:1000269	mondo.json	gastric choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006222	UMLS:C2987398|NCIT:C95749	
MONDO:0008885	biolink:Disease	Elsahy-Waters syndrome	An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971.	Orphanet:157788|UMLS:C1863870|Orphanet:1299|OMIM:211380|OMIM:603463|MESH:C566373|GARD:0000955|MESH:C537084|DOID:0080631|SCTID:719097002	mondo.json	brachioskeletogenital syndrome|ELSAHY-Waters syndrome|branchio-skeleto-genital syndrome|Elsahy-Waters syndrome|hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss|hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss|ESWS|hypospadias-hypertelorism-coloboma and deafness syndrome|BSG syndrome	http://purl.obolibrary.org/obo/MONDO_0008885	http://identifiers.org/mesh/C566373|DOID:0080631|https://omim.org/entry/211380|https://omim.org/entry/603463|Orphanet:157788|http://identifiers.org/snomedct/719097002|UMLS:C1863870|http://identifiers.org/mesh/C537084|Orphanet:1299	ordo_malformation_syndrome
MONDO:0008884	biolink:Disease	oculoosteocutaneous syndrome	A syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.	SCTID:722061006|MESH:C565893|GARD:0000992|OMIM:211370|UMLS:C1859385|Orphanet:2713	mondo.json	oculoosteocutaneous syndrome|anodontia-hypotrichosis syndrome|brachymetapody anodontia hypotrichosis albinoidism|BRACHYMETAPODY-anodontia-hypotrichosis-ALBINOIDISM	http://purl.obolibrary.org/obo/MONDO_0008884	http://identifiers.org/snomedct/722061006|https://omim.org/entry/211370|http://identifiers.org/mesh/C565893|UMLS:C1859385|Orphanet:2713	ordo_malformation_syndrome|gard_rare
MONDO:0006223	biolink:Disease	gastric diffuse large B-cell lymphoma	An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach.	EFO:1000270|NCIT:C5253|UMLS:C1335483	mondo.json	primary diffuse large B-cell lymphoma of the stomach|primary diffuse large B-cell lymphoma of stomach|primary gastric diffuse large B-cell lymphoma|gastric diffuse large B-cell lymphoma|primary diffuse large B-cell gastric lymphoma	http://purl.obolibrary.org/obo/MONDO_0006223	NCIT:C5253|UMLS:C1335483	
MONDO:0006220	biolink:Disease	gallbladder squamous cell carcinoma	A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells.	DOID:5535|UMLS:C0279658|NCIT:C9170|EFO:1000267	mondo.json	epidermoid gallbladder carcinoma|epidermoid carcinoma of the gallbladder|epidermoid carcinoma of gallbladder|gall bladder squamous cell carcinoma|gallbladder squamous cell carcinoma|squamous cell gallbladder carcinoma|gallbladder squamous cell cancer|squamous cell carcinoma of the gallbladder|squamous cell carcinoma of gallbladder	http://purl.obolibrary.org/obo/MONDO_0006220	DOID:5535|NCIT:C9170|UMLS:C0279658	
MONDO:0008883	biolink:Disease	brachydactyly, type A2, with microcephaly		MESH:C565894|OMIM:211369|UMLS:C1859393	mondo.json	brachydactyly, type A2, with microcephaly	http://purl.obolibrary.org/obo/MONDO_0008883	https://omim.org/entry/211369|http://identifiers.org/mesh/C565894|UMLS:C1859393	
MONDO:0006221	biolink:Disease	gastric adenoma	A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps.	UMLS:C0149826|NCIT:C7699|EFO:1000268	mondo.json	adenoma of stomach|stomach adenoma|gastric adenoma|adenoma of the stomach	http://purl.obolibrary.org/obo/MONDO_0006221	NCIT:C7699|UMLS:C0149826	
MONDO:0008882	biolink:Disease	congenital bowing of long bones	Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae.	Orphanet:2292|MedDRA:10054064|OMIM:211355|GARD:0000953|SCTID:716098006	mondo.json	bowing of long bones congenital|bowing of long bones, asymmetric and symmetric	http://purl.obolibrary.org/obo/MONDO_0008882	http://identifiers.org/snomedct/716098006|https://omim.org/entry/211355|Orphanet:2292	gard_rare|ordo_morphological_anomaly
FOODON:00002131	biolink:NamedThing	plant based refined or partially-refined food product			mondo.json		http://purl.obolibrary.org/obo/FOODON_00002131		
MONDO:0008881	biolink:Disease	kyphomelic dysplasia	Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome.	ICD9:733.29|OMIM:211350|MESH:C538128|UMLS:C0432239|SCTID:254096001|GARD:0010149|Orphanet:1801	mondo.json	bowing, congenital, with short bones|kyphomelic dysplasia|congenital bowing with short bones	http://purl.obolibrary.org/obo/MONDO_0008881	Orphanet:1801|https://omim.org/entry/211350|UMLS:C0432239|http://identifiers.org/snomedct/254096001|http://identifiers.org/mesh/C538128	gard_rare|ordo_malformation_syndrome
MONDO:0008880	biolink:Disease	Bowen syndrome of multiple malformations		Orphanet:1271|MESH:C538164|UMLS:C1859404|OMIM:211200	mondo.json	Bowen syndrome of multiple malformations|Bowen syndrome	http://purl.obolibrary.org/obo/MONDO_0008880	https://omim.org/entry/211200|UMLS:C1859404|http://identifiers.org/mesh/C538164	
UBERON:0003086	biolink:AnatomicalEntity	caudal artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003086		
UBERON:0003083	biolink:AnatomicalEntity	trunk neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003083		
UBERON:0003084	biolink:AnatomicalEntity	heart primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003084		
UBERON:0003081	biolink:AnatomicalEntity	lateral plate mesoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003081		
UBERON:0003082	biolink:AnatomicalEntity	myotome			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003082		
MONDO:0021834	biolink:Disease	Akaba Hayasaka syndrome	A syndrome characterized by frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia.	GARD:0000577|MESH:C535609|UMLS:C2930948	mondo.json	frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia	http://purl.obolibrary.org/obo/MONDO_0021834	http://identifiers.org/mesh/C535609|UMLS:C2930948	gard_rare
MONDO:0021836	biolink:Disease	Aksu von Stockhausen syndrome	A syndrome characterized by a malformations of the neck due to a branchial arch defect. In the neonatal period the following signs were noted: symmetrical preauricular pits, retroauricular additional rudimentary auricles, a blindly ending coccygeal groove, microstomia and papillomata of the hypopharynx. This is an n-of-1 use case where only one patient or family has been described with this disorder.	MESH:C535611|GARD:0000579	mondo.json	hereditary branchial arch defects|aksu von stockhausen syndrome	http://purl.obolibrary.org/obo/MONDO_0021836	http://identifiers.org/mesh/C535611	n_of_one|gard_rare
MONDO:0021838	biolink:Disease	Al Gazali Khidr Prem Chandran syndrome	A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder.	GARD:0000586|UMLS:C2930951|MESH:C535616	mondo.json	cherubism, optic atrophy and short stature	http://purl.obolibrary.org/obo/MONDO_0021838	http://identifiers.org/mesh/C535616|UMLS:C2930951	n_of_one|gard_rare
UBERON:0003089	biolink:AnatomicalEntity	sclerotome			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003089		
MONDO:0021839	biolink:Disease	spirochaetales infections	Infections with bacteria of the order SPIROCHAETALES.	UMLS:C0037974|MESH:D013145|GARD:0007682	mondo.json	SPIROCHETE INFECT|Infections, Spirochete|Spirochete Infection|SPIROCHAETALES INFECT|Spirochaetales Infections|Spirochetosis|Spirochetal infection|Spirochete Infections|INFECT SPIROCHAETALES|INFECT SPIROCHETE|Infection, Spirochaetales|Infection, Spirochete|Infections, Spirochaetales|Spirochaetales Infection	http://purl.obolibrary.org/obo/MONDO_0021839	http://identifiers.org/mesh/D013145|UMLS:C0037974	gard_rare
UBERON:0015054	biolink:AnatomicalEntity	iliac endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015054		
UBERON:0015053	biolink:AnatomicalEntity	humerus endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015053		
OBO:chebi#has_parent_hydride	biolink:NamedThing	has parent hydride			mondo.json		http://purl.obolibrary.org/obo/chebi#has_parent_hydride		
UBERON:0015056	biolink:AnatomicalEntity	ischial endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015056		
MONDO:0008859	biolink:Disease	berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification		GARD:0008552|UMLS:C1859519|OMIM:210050|MESH:C565905	mondo.json	berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification|cerebral aneurysm-cirrhosis syndrome	http://purl.obolibrary.org/obo/MONDO_0008859	UMLS:C1859519|https://omim.org/entry/210050|http://identifiers.org/mesh/C565905	gard_rare
UBERON:0015055	biolink:AnatomicalEntity	pubic endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015055		
MONDO:0008858	biolink:Disease	Behr syndrome	A disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient.	ICD10CM:H35.5|SCTID:718221007|DOID:0111580|OMIM:210000|MESH:C537669|UMLS:C0221061|Orphanet:1239|GARD:0000849	mondo.json	optic atrophy, infantile hereditary, with neurologic abnormalities|BEHRS|optic atrophy in early childhood, associated with ataxia, spasticity, intellectual disability, and posterior column sensory loss|Behr syndrome|optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss|optic atrophy, infantile hereditary, Behr complicated form of	http://purl.obolibrary.org/obo/MONDO_0008858	http://identifiers.org/snomedct/718221007|http://identifiers.org/mesh/C537669|DOID:0111580|UMLS:C0221061|https://omim.org/entry/210000	gard_rare|ordo_malformation_syndrome
UBERON:0015050	biolink:AnatomicalEntity	tarsus endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015050		
GO:0102175	biolink:NamedThing	3-beta-hydroxysteroid dehydrogenase/C4-decarboxylase activity	Catalysis of the reaction: a 3beta-hydroxysteroid-4alpha-carboxylate + NAD(+) = a 3-oxosteroid + CO2 + NADH.		mondo.json		http://purl.obolibrary.org/obo/GO_0102175		
MONDO:0008857	biolink:Disease	Beemer-Ertbruggen syndrome	Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984.	SCTID:717859007|GARD:0000846|Orphanet:1237|MESH:C537668|UMLS:C1859526|OMIM:209970	mondo.json	Beemer lethal malformation syndrome|Beemer Ertbruggen syndrome|hydrocephalus, Cardiac malformation, dense bones, etc.|peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome|hydrocephalus, cardiac malformation, dense bones, etc|lethal hydrocephalus-cardiac malformation-dense bones syndrome	http://purl.obolibrary.org/obo/MONDO_0008857	UMLS:C1859526|Orphanet:1237|http://identifiers.org/mesh/C537668|https://omim.org/entry/209970|http://identifiers.org/snomedct/717859007	ordo_malformation_syndrome|gard_rare
MONDO:0008856	biolink:Disease	immunodeficiency 27A		Orphanet:99898|UMLS:C4011949|GARD:0009185|OMIM:209950	mondo.json	immunodeficiency type 27A|atypical mycobacterial infection, familial disseminated|IFNGR1 deficiency, autosomal recessive|atypical mycobacterial infection, disseminated|IMD27A|immunodeficiency 27A|immunodeficiency 27A, Mycobacteriosis, autosomal recessive|atypical mycobacteriosis, familial|immunodeficiency 27A, mycobacteriosis, AR|mycobacterial disease, Mendelian susceptibility to	http://purl.obolibrary.org/obo/MONDO_0008856	UMLS:C4011949|https://omim.org/entry/209950	obsoletion_candidate
UBERON:0015052	biolink:AnatomicalEntity	femur endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015052		
MONDO:0008855	biolink:Disease	MHC class II deficiency	Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.	GARD:0000824|OMIM:209920|DOID:5812|SCTID:71904008|MESH:D016511|Orphanet:572|NCIT:C3895|MESH:C537079|UMLS:CN239286	mondo.json	Bare lymphocyte syndrome, type II, complementation group A|severe combined immunodeficiency, HLA Class II-negative|BLS, type II|SCID due to absent class II HLA antigens|MHC class II expression deficiency|BARE lymphocyte syndrome, type II|Bare lymphocyte syndrome type 2|HLA class 2-negative SCID|bare lymphocyte syndrome type II|major histocompatibility complex class II expression deficiency|SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, included|BARE lymphocyte syndrome|Bls, type 2|severe combined immunodeficiency, HLA class ii-negative|BARE lymphocyte syndrome, type II, complementation group E, included|MHC class II deficiency, complementation group B|HLA class 2-negative severe combined immunodeficiency|BARE lymphocyte syndrome, type II, complementation group D, included|Bare lymphocyte syndrome, type 2|BARE lymphocyte syndrome, type II, complementation group C, included|immunodeficiency by defective expression of HLA class 2|Bare lymphocyte syndrome|BARE lymphocyte syndrome, type II, complementation group B, included|BLS type II|SCID, HLA Class 2-negative|BLS|BLS 2|Bare lymphocyte syndrome, type II, complementation group E|BLSII|Bare lymphocyte syndrome, type II|Bare lymphocyte syndrome, type II, complementation group D|Bare lymphocyte syndrome, type II, complementation group C|SCID, HLA Class II-negative|immunodeficiency by defective expression of HLA class type 2|Bare lymphocyte syndrome, type II, complementation group B|Bare lymphocyte syndrome 2	http://purl.obolibrary.org/obo/MONDO_0008855	UMLS:CN239286|NCIT:C3895|http://identifiers.org/mesh/C537079|http://identifiers.org/snomedct/71904008|https://omim.org/entry/209920|DOID:5812|Orphanet:572	gard_rare|ordo_disease
MONDO:0008854	biolink:Disease	Bardet-Biedl syndrome 1	A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13.	UMLS:C2673874|UMLS:C1858054|UMLS:C2673873|UMLS:C2936862|EFO:0009021|UMLS:C3806174|UMLS:C1859570|GARD:0000820|OMIM:209900|UMLS:C3150127|UMLS:C1859569|UMLS:C1859568|UMLS:C1859567|UMLS:C3714980|UMLS:C1859566|UMLS:C1859565|MESH:C537909|UMLS:C1859564|DOID:0110123	mondo.json	Bardet-Biedl syndrome 1, modifier of|Bardet-Biedl syndrome type 1|Bardet-Biedl syndrome 1|BBS1	http://purl.obolibrary.org/obo/MONDO_0008854	UMLS:C2936862|https://omim.org/entry/209900|http://identifiers.org/mesh/C537909|DOID:0110123	gard_rare
MONDO:0008853	biolink:Disease	Barber-Say syndrome	Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.	DOID:0060549|UMLS:C1319466|OMIM:209885|SCTID:408537003|MESH:C537908|GARD:0000819|Orphanet:1231	mondo.json	hypertrichosis atrophic skin ectropion macrostomia|Barber Say syndrome|BARBER-SAY syndrome|Barber-Say syndrome|Bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|BBRSAY|hypertrichosis, atrophic skin, ectropion, and macrostomia	http://purl.obolibrary.org/obo/MONDO_0008853	Orphanet:1231|https://omim.org/entry/209885|http://identifiers.org/mesh/C537908|DOID:0060549|UMLS:C1319466|http://identifiers.org/snomedct/408537003	gard_rare|ordo_malformation_syndrome
NCBITaxon:9845	biolink:OrganismalEntity	Ruminantia		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_9845		
MONDO:0008852	biolink:Disease	obsolete congenital central hypoventilation syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008852		
MONDO:0008851	biolink:Disease	obsolete autism			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008851		
MONDO:0008850	biolink:Disease	Cooper-Jabs syndrome	Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive.	Orphanet:1488|SCTID:720748007|OMIM:209770|MESH:C565923	mondo.json	aural atresia, multiple congenital anomalies, and mental retardation|aural atresia, multiple congenital anomalies, and intellectual disability|aural atresia-multiple congenital anomalies-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0008850	https://omim.org/entry/209770|Orphanet:1488|http://identifiers.org/snomedct/720748007|http://identifiers.org/mesh/C565923	ordo_malformation_syndrome
UBERON:0015057	biolink:AnatomicalEntity	scapula endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015057		
UBERON:0015059	biolink:AnatomicalEntity	orbitosphenoid endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015059		
MONDO:0021829	biolink:Disease	agnathia-microstomia-synotia		UMLS:C2931718|GARD:0010125|MESH:C538059	mondo.json	Plurimalformative syndrome|agnathia, microstomia, synotia and cardiac and pulmonary maldevelopment	http://purl.obolibrary.org/obo/MONDO_0021829	http://identifiers.org/mesh/C538059|UMLS:C2931718	gard_rare
UBERON:0003076	biolink:AnatomicalEntity	posterior neural tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003076		
HP:0003125	biolink:PhenotypicFeature	Reduced factor VIII activity	Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.	UMLS:C3494187|MSH:D006467|UMLS:C4025649|SNOMEDCT_US:234440005	mondo.json	Factor VIII deficiency	http://purl.obolibrary.org/obo/HP_0003125		
UBERON:0003077	biolink:AnatomicalEntity	paraxial mesoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003077		
HP:0003124	biolink:PhenotypicFeature	Hypercholesterolemia	An increased concentration of cholesterol in the blood.	SNOMEDCT_US:166830008|UMLS:C0020443|SNOMEDCT_US:13644009|UMLS:C0595929|MSH:D006937	mondo.json	High cholesterol|Increased total cholesterol|Elevated serum cholesterol|Elevated total cholesterol	http://purl.obolibrary.org/obo/HP_0003124		
UBERON:0003074	biolink:AnatomicalEntity	mesonephric duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003074		
UBERON:0003075	biolink:AnatomicalEntity	neural plate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003075		
NCBITaxon:9850	biolink:OrganismalEntity	Cervidae		GC_ID:1	mondo.json	deer	http://purl.obolibrary.org/obo/NCBITaxon_9850		
UBERON:0003072	biolink:AnatomicalEntity	optic cup			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003072		
UBERON:0003073	biolink:AnatomicalEntity	lens placode			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003073		
HP:0003128	biolink:PhenotypicFeature	Lactic acidosis	An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.	UMLS:C0347959|UMLS:C0001125|MSH:D000140|SNOMEDCT_US:190882007|SNOMEDCT_US:91273001	mondo.json	Lactic acidemia|Lacticacidemia|Lacticacidosis|Increased lactate in body|Hyperlacticacidemia	http://purl.obolibrary.org/obo/HP_0003128		
UBERON:0003070	biolink:AnatomicalEntity	trigeminal placode complex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003070		
UBERON:0003071	biolink:AnatomicalEntity	eye primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003071		
MONDO:0021824	biolink:Disease	adult progressive spinal muscular atrophy, Aran Duchenne type	A progressive muscle weakness and atrophy of the limbs that irregularly affects certain muscles, while it spares others.	GARD:0009132	mondo.json	Aran Duchenne spinal muscular atrophy|adult progressive spinal muscular atrophy Aran Duchenne type|adult SMA Aran Duchenne type	http://purl.obolibrary.org/obo/MONDO_0021824		gard_rare
MONDO:0021826	biolink:Disease	aerobic Actinomyces infection	Infection with the less common aerobic antinomyces bacteria.	GARD:0009779|UMLS:C2931717|MESH:C538054	mondo.json		http://purl.obolibrary.org/obo/MONDO_0021826	UMLS:C2931717|http://identifiers.org/mesh/C538054	gard_rare
HP:0003121	biolink:PhenotypicFeature	Limb joint contracture	A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.	UMLS:C1969879	mondo.json	Limb contractures	http://purl.obolibrary.org/obo/HP_0003121		
HP:0030718	biolink:PhenotypicFeature	Right atrial enlargement	Increase in size of the right atrium.	Fyler:2859|UMLS:C0748427|Fyler:1771|SNOMEDCT_US:67751000119106	mondo.json	Right atrial dilatation|Enlarged heart right atrium|Dilated right atrium	http://purl.obolibrary.org/obo/HP_0030718		
UBERON:0003078	biolink:AnatomicalEntity	epibranchial placode			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003078		
UBERON:0015043	biolink:AnatomicalEntity	manual digit 1 metacarpus endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015043		
UBERON:0015042	biolink:AnatomicalEntity	manual digit metacarpus endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015042		
MONDO:0006208	biolink:Disease	fallopian tube serous adenocarcinoma	A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma.	UMLS:C1517124|EFO:1000253|DOID:5598|NCIT:C40099	mondo.json	fallopian tube serous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006208	NCIT:C40099|DOID:5598|UMLS:C1517124	
MONDO:0006209	biolink:Disease	fibroblastic neoplasm	A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts.	EFO:1000255|NCIT:C7075	mondo.json	fibroblastic tumor|fibroblastic neoplasm|fibrogenicTumor|fibrous neoplasm|fibrocytic neoplasm|fibrocytic tumor|fibrous tumor|fibrogenic neoplasm	http://purl.obolibrary.org/obo/MONDO_0006209	NCIT:C7075	
MONDO:0008869	biolink:Disease	Seckel syndrome 1	Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene.	DOID:0070007|UMLS:C1837590|OMIM:210600|UMLS:CN033164	mondo.json	Seckel syndrome caused by mutation in ATR|SCKL1|Seckel syndrome type 1|Sckl|Seckel syndrome 1|nanocephalic dwarfism|Bird-headed dwarfism|microcephalic primordial dwarfism 1|microcephalic primordial dwarfism I|Seckel-type dwarfism|ATR Seckel syndrome|Seckel syndrome 3	http://purl.obolibrary.org/obo/MONDO_0008869	UMLS:CN033164|UMLS:C1837590|https://omim.org/entry/210600|DOID:0070007	
MONDO:0006206	biolink:Disease	fallopian tube carcinoma	A carcinoma that arises from epithelial cells of the fallopian tube.	DOID:1963|EFO:1000251|UMLS:C0238122|NCIT:C3867|SCTID:276870001	mondo.json	carcinoma of fallopian tube|carcinoma of the fallopian tube|fallopian tube carcinoma|fallopian tube cancer|fallopian tube Ca|cancer of the fallopian tube|cancer of fallopian tube	http://purl.obolibrary.org/obo/MONDO_0006206	DOID:1963|UMLS:C0238122|NCIT:C3867|http://identifiers.org/snomedct/276870001	
MONDO:0006207	biolink:Disease	fallopian tube carcinosarcoma	A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor.	UMLS:C1517117|NCIT:C40124|DOID:1970|EFO:1000252	mondo.json	fallopian tube malignant mixed mesodermal (mullerian) tumor|fallopian tube carcinosarcoma|fallopian tube malignant mixed mesodermal (Müllerian) tumor|fallopian tube malignant mixed Mullerian tumor	http://purl.obolibrary.org/obo/MONDO_0006207	DOID:1970|NCIT:C40124|UMLS:C1517117	
MONDO:0008868	biolink:Disease	biliary malformation with renal tubular insufficiency		MESH:C537726|OMIM:210550|SCTID:235914003|UMLS:C0400972	mondo.json	biliary malformation with renal tubular insufficiency|cholestatic jaundice and renal tubular insufficiency	http://purl.obolibrary.org/obo/MONDO_0008868	UMLS:C0400972|http://identifiers.org/mesh/C537726|http://identifiers.org/snomedct/235914003|https://omim.org/entry/210550	
MONDO:0008867	biolink:Disease	biliary atresia	A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool.	SCTID:77480004|ICD9:751.61|DOID:13608|UMLS:C0005411|MedDRA:10003650|MESH:D001656|NCIT:C34421|GARD:0012010|Orphanet:30391	mondo.json	atresia of bile ducts|congenital biliary atresia|isolated biliary atresia|isolated atresia of bile ducts|atresia of bile duct|non-syndromic biliary atresia|biliary atresia, congenital	http://purl.obolibrary.org/obo/MONDO_0008867	NCIT:C34421|http://identifiers.org/mesh/D001656|Orphanet:30391|DOID:13608|UMLS:C0005411|http://identifiers.org/snomedct/77480004	gard_rare|ordo_morphological_anomaly
MONDO:0006204	biolink:Disease	obsolete extramammary Paget disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006204		
UBERON:0015041	biolink:AnatomicalEntity	pedal digit 5 metatarsal endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015041		
MONDO:0008866	biolink:Disease	bifid nose, autosomal recessive	Autosomal recessive form of bifid nose.	OMIM:210400	mondo.json	Nose, Median cleft of|median fissure of Nose|bifid nose, autosomal recessive|autosomal recessive bifid nose	http://purl.obolibrary.org/obo/MONDO_0008866	https://omim.org/entry/210400	
MONDO:0006205	biolink:Disease	obsolete extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006205		
MONDO:0008865	biolink:Disease	Bietti crystalline corneoretinal dystrophy	Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.	UMLS:C1859486|DOID:0050664|OMIM:210370|Orphanet:41751|MESH:C535440|GARD:0010050|SCTID:312927001	mondo.json	BCD|Bietti crystalline retinopathy|Bietti tapetoretinal Degeneration with marginal corneal dystrophy|Bietti crystalline dystrophy|Bietti's crystalline dystrophy|Bietti crystalline corneoretinal dystrophy	http://purl.obolibrary.org/obo/MONDO_0008865	http://identifiers.org/snomedct/312927001|DOID:0050664|http://identifiers.org/mesh/C535440|https://omim.org/entry/210370|Orphanet:41751|UMLS:C1859486	gard_rare|ordo_disease
MONDO:0006202	biolink:Disease	extrahepatic bile duct adenosquamous carcinoma	A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components.	EFO:1000247|NCIT:C5778	mondo.json	extrahepatic bile duct adenosquamous carcinoma|adenosquamous carcinoma of the bile duct|adenosquamous bile duct carcinoma|bile duct adenosquamous carcinoma|adenosquamous carcinoma of bile duct	http://purl.obolibrary.org/obo/MONDO_0006202	NCIT:C5778	
MONDO:0008864	biolink:Disease	Biemond syndrome type 2	Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.	UMLS:C1859487|OMIM:210350|GARD:0000882|Orphanet:141333|SCTID:717887003|MESH:C565902	mondo.json	Biemond syndrome type 2|BIEMOND syndrome II|iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly|BS2|hypogonadism-short stature-coloboma-preaxial polydactyly syndrome|Biemond syndrome 2|iris coloboma, intellectual disability, obesity, hypogenitalism, and postaxial polydactyly	http://purl.obolibrary.org/obo/MONDO_0008864	http://identifiers.org/snomedct/717887003|https://omim.org/entry/210350|http://identifiers.org/mesh/C565902|Orphanet:141333|UMLS:C1859487	gard_rare|ordo_disease
MONDO:0006203	biolink:Disease	extrahepatic bile duct squamous cell carcinoma	A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells.	EFO:1000248|NCIT:C5777|UMLS:C0861861	mondo.json	squamous cell bile duct carcinoma|bile duct squamous cell carcinoma|squamous cell carcinoma of the bile duct|squamous cell carcinoma of bile duct|extrahepatic bile duct squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006203	NCIT:C5777	
MONDO:0006200	biolink:Disease	epithelioid cell uveal melanoma	A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes.	DOID:7040|NCIT:C35780|EFO:1000244|UMLS:C1333422	mondo.json	uveal epithelioid cell melanoma|epithelioid cell melanoma of uvea|uvea epithelioid cell melanoma|epithelioid cell uveal melanoma	http://purl.obolibrary.org/obo/MONDO_0006200	UMLS:C1333422|NCIT:C35780|DOID:7040	
MONDO:0008863	biolink:Disease	sitosterolemia	A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.	Orphanet:101022|Orphanet:2882|NCIT:C125694|UMLS:C0342907|OMIMPS:210250|SCTID:238104009|GARD:0007653|OMIMPS:215250|DOID:0090019|MedDRA:10063985|MESH:C537345	mondo.json	phytosterolemia|retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body|STSL|macrothrombocytopenia/stomatocytosis, Mediterranean|sitosterolemia|plant sterol storage disease	http://purl.obolibrary.org/obo/MONDO_0008863	http://identifiers.org/mesh/C537345|Orphanet:2882|http://identifiers.org/snomedct/238104009|DOID:0090019|UMLS:C0342907|https://omim.org/phenotypicSeries/PS210250|NCIT:C125694	gard_rare|ordo_disease
MONDO:0006201	biolink:Disease	ethmoid sinus adenoid cystic carcinoma	An adenoid cystic carcinoma that affects the ethmoid sinus.	UMLS:C1333473|EFO:1000246|DOID:2764|NCIT:C6238	mondo.json	adenoid cystic carcinoma of the ethmoid sinus|adenoid cystic carcinoma of ethmoid sinus	http://purl.obolibrary.org/obo/MONDO_0006201	UMLS:C1333473|NCIT:C6238|DOID:2764	
MONDO:0008862	biolink:Disease	3-methylcrotonyl-CoA carboxylase 2 deficiency	Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene.	OMIM:210210|GARD:0009151|DOID:0080580|MESH:C535309	mondo.json	methylcrotonylglycinuria, type 2|MCCC2 3-methylcrotonyl-CoA carboxylase deficiency|MCC 2 deficiency|3-methylcrotonylglycinuria 2|3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC2|3-METHYLCROTONYL-CoA carboxylase 2 deficiency|3-Methylcrotonyl-CoA carboxylase 2 deficiency|3 alpha methylcrotonyl-CoA carboxylase 2 deficiency|MCC2 deficiency|MCC2D|3 alpha methylcrotonylglycinuria 2|methylcrotonylglycinuria type 2	http://purl.obolibrary.org/obo/MONDO_0008862	DOID:0080580|http://identifiers.org/mesh/C535309|https://omim.org/entry/210210	
MONDO:0008861	biolink:Disease	3-methylcrotonyl-CoA carboxylase 1 deficiency	Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene.	GARD:0005665|OMIM:210200|UMLS:CN028786|DOID:0080579|MESH:C535308	mondo.json	deficiency of methylcrotonoyl-Coa carboxylase|methylcrotonylglycinuria type 1|3 alpha methylcrotonylglycinuria 1|Bmcc deficiency|3-methylcrotonyl-CoA carboxylase 1 deficiency|MCCC1 3-methylcrotonyl-CoA carboxylase deficiency|3 Methylcrotonyl-CoA carboxylase 1 deficiency|MCC deficiency|3-methylcrotonylglycinuria 1|3-METHYLCROTONYL-CoA carboxylase 1 deficiency|3-Methylcrotonyl-Coa carboxylase deficiency|3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC1|3-methylcrotonylglycinuria|3-Methylcrotonyl-Coa carboxylase 1 deficiency|methylcrotonoyl-CoA carboxylase 1 deficiency|MCC1D|Mcc1 deficiency|3 methylcrotonylglycinuria|3-MCC deficiency|3 Alpha methylcrotonylglycinuria 1|methylcrotonylglycinuria type I|MCC1 deficiency|Mccd type 1|3-Methylcrotonyl-Coenzyme A carboxylase deficiency|MCCD type 1|MCC 1 deficiency|Methylcrotonyl-Coa carboxylase deficiency|3 Methylcrotonyl-CoA carboxylase deficiency|3-methylcrotonylglycinuria I	http://purl.obolibrary.org/obo/MONDO_0008861	UMLS:CN028786|DOID:0080579|http://identifiers.org/mesh/C535308|https://omim.org/entry/210200	gard_rare
UBERON:0015047	biolink:AnatomicalEntity	manual digit 5 metacarpus endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015047		
MONDO:0008860	biolink:Disease	beta-aminoisobutyric acid, urinary excretion of		OMIM:210100|MESH:C565904|UMLS:C1859518	mondo.json	beta-aminoisobutyric acid, urinary excretion of|Baib urinary excretion|BETA-aminoisobutyric aciduria|Beta-aminoisobutyric aciduria|BAIBA|hyper-Beta-aminoisobutyric aciduria	http://purl.obolibrary.org/obo/MONDO_0008860	http://identifiers.org/mesh/C565904|https://omim.org/entry/210100|UMLS:C1859518	
UBERON:0015049	biolink:AnatomicalEntity	carpus endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015049		
HP:0030724	biolink:PhenotypicFeature	Central nervous system cyst	A fluid-filled sac (cyst) located within the central nervous system.	UMLS:C0349606|MSH:D020863|SNOMEDCT_US:277333006	mondo.json	CNS cyst|Cyst of the central nervous system	http://purl.obolibrary.org/obo/HP_0030724		
UBERON:0003066	biolink:AnatomicalEntity	pharyngeal arch 2			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003066		
UBERON:0003063	biolink:AnatomicalEntity	prechordal plate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003063		
UBERON:0003064	biolink:AnatomicalEntity	intermediate mesoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003064		
UBERON:0003061	biolink:AnatomicalEntity	blood island			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003061		
UBERON:0003060	biolink:AnatomicalEntity	pronephric duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003060		
NCBITaxon:7203	biolink:OrganismalEntity	Brachycera		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_7203		
MONDO:0021811	biolink:Disease	acute mountain sickness	Acute mountain sickness is characterized by altitude sickness that affects otherwise healthy persons, develops within hours after arriving at altitude, and results in functional impairment from symptoms that may include headache, anorexia, nausea, vomiting, dizziness, fatigue, and sleep disturbances.	ICD9:993.2|SCTID:78590007|GARD:0005730|UMLS:C0238284	mondo.json	Mountain sickness|soroche|altitude sickness|acute mountain sickness|high altitude pulmonary edema|altitude anoxia|acosta's disease|high altitude cerebral edema	http://purl.obolibrary.org/obo/MONDO_0021811	http://identifiers.org/snomedct/78590007|UMLS:C0238284	gard_rare
MONDO:0021812	biolink:Disease	adnexal spiradenoma/cylindroma of a sweat gland	A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative.	SCTID:274903001|NCIT:C27094|GARD:0008641|ICDO:8200/0	mondo.json	cylindroma of the skin|cylindroma|adnexal sweat gland spiradenoma/cylindroma|dermal cylindroma|cylindroma of skin	http://purl.obolibrary.org/obo/MONDO_0021812	http://identifiers.org/snomedct/274903001|NCIT:C27094	gard_rare
HP:0003133	biolink:PhenotypicFeature	Abnormality of the spinocerebellar tracts	An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.	UMLS:C4025647	mondo.json		http://purl.obolibrary.org/obo/HP_0003133		
UBERON:0003069	biolink:AnatomicalEntity	otic placode			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003069		
UBERON:0003067	biolink:AnatomicalEntity	dorsolateral placode			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003067		
UBERON:0003068	biolink:AnatomicalEntity	axial mesoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003068		
UBERON:0005629	biolink:AnatomicalEntity	vascular plexus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005629		
HGNC:3800	biolink:NamedThing	FOXC1			mondo.json		http://identifiers.org/hgnc/3800		
UBERON:0005637	biolink:AnatomicalEntity	pyloric region epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005637		
UBERON:0005636	biolink:AnatomicalEntity	caecum epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005636		
UBERON:0005631	biolink:AnatomicalEntity	extraembryonic membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005631		
UBERON:0005630	biolink:AnatomicalEntity	fetal membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005630		
CHEBI:46662	biolink:ChemicalSubstance	mineral	In general, a mineral is a chemical substance that is normally crystalline formed and has been formed as a result of geological processes. The term also includes metamict substances (naturally occurring, formerly crystalline substances whose crystallinity has been destroyed by ionising radiation) and can include naturally occurring amorphous substances that have never been crystalline ('mineraloids') such as georgite and calciouranoite as well as substances formed by the action of geological processes on bigenic compounds ('biogenic minerals').		mondo.json	minerals|minerales|mineraux|mineral|Minerale	http://purl.obolibrary.org/obo/CHEBI_46662		
HGNC:3808	biolink:NamedThing	FOXE3			mondo.json		http://identifiers.org/hgnc/3808		
CHEBI:46663	biolink:ChemicalSubstance	silicate mineral			mondo.json	Silikate|silicatos|silicate minerals|Silikatminerale|silicates|silicato|Silikat	http://purl.obolibrary.org/obo/CHEBI_46663		
HGNC:3806	biolink:NamedThing	FOXE1			mondo.json		http://identifiers.org/hgnc/3806		
HGNC:3804	biolink:NamedThing	FOXD3			mondo.json		http://identifiers.org/hgnc/3804		
UBERON:0005619	biolink:AnatomicalEntity	secondary palatal shelf			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005619		
UBERON:0005617	biolink:AnatomicalEntity	mesenteric vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005617		
HGNC:3801	biolink:NamedThing	FOXC2			mondo.json		http://identifiers.org/hgnc/3801		
UBERON:0005616	biolink:AnatomicalEntity	mesenteric artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005616		
CHEBI:46661	biolink:ChemicalSubstance	asbestos	Fibrous incombustible mineral composed of magnesium and calcium silicates with or without other elements.		mondo.json	asbesto|Asbest|asbestos	http://purl.obolibrary.org/obo/CHEBI_46661		
HGNC:3809	biolink:NamedThing	FOXF1			mondo.json		http://identifiers.org/hgnc/3809		
UBERON:0005626	biolink:AnatomicalEntity	ventral mesogastrium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005626		
HGNC:3811	biolink:NamedThing	FOXG1			mondo.json		http://identifiers.org/hgnc/3811		
UBERON:0005625	biolink:AnatomicalEntity	tubotympanic recess lumen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005625		
UBERON:0005624	biolink:AnatomicalEntity	suprarenal artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005624		
UBERON:0005623	biolink:AnatomicalEntity	semi-lunar valve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005623		
UBERON:0005622	biolink:AnatomicalEntity	right dorsal aorta			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005622		
HGNC:3819	biolink:NamedThing	FOXO1			mondo.json		http://identifiers.org/hgnc/3819		
UBERON:0005609	biolink:AnatomicalEntity	iliac artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005609		
HGNC:3815	biolink:NamedThing	FOXI1			mondo.json		http://identifiers.org/hgnc/3815		
NCBITaxon:7227	biolink:OrganismalEntity	Drosophila melanogaster		GC_ID:1	mondo.json	Sophophora melanogaster|fruit fly	http://purl.obolibrary.org/obo/NCBITaxon_7227		
UBERON:0005606	biolink:AnatomicalEntity	hyaloid cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005606		
NCBITaxon:9895	biolink:OrganismalEntity	Bovidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_9895		
UBERON:0005614	biolink:AnatomicalEntity	lens anterior epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005614		
UBERON:0005613	biolink:AnatomicalEntity	left dorsal aorta			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005613		
UBERON:0005610	biolink:AnatomicalEntity	iliac vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005610		
CHEBI:22695	biolink:ChemicalSubstance	base	A molecular entity having an available pair of electrons capable of forming a covalent bond with a hydron (Bronsted base) or with the vacant orbital of some other molecular entity (Lewis base).		mondo.json	Base|base|bases|Base2|Base1|Basen|Nucleobase	http://purl.obolibrary.org/obo/CHEBI_22695		
CHEBI:22693	biolink:ChemicalSubstance	barbiturates	Members of the class of pyrimidones consisting of pyrimidine-2,4,6(1H,3H,5H)-trione (barbituric acid) and its derivatives. Largest group of the synthetic sedative/hypnotics, sharing a characteristic six-membered ring structure.		mondo.json	barbituric acids|barbiturates	http://purl.obolibrary.org/obo/CHEBI_22693		
GO:0006417	biolink:NamedThing	regulation of translation	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.		mondo.json	regulation of protein biosynthesis|regulation of protein anabolism|regulation of protein synthesis|regulation of protein formation	http://purl.obolibrary.org/obo/GO_0006417		
GO:0006414	biolink:NamedThing	translational elongation	The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis.		mondo.json	translation elongation|protein synthesis elongation	http://purl.obolibrary.org/obo/GO_0006414		
GO:0006415	biolink:NamedThing	translational termination	The process resulting in the release of a polypeptide chain from the ribosome, usually in response to a termination codon (UAA, UAG, or UGA in the universal genetic code).		mondo.json	translation termination|protein synthesis termination|translational complex disassembly	http://purl.obolibrary.org/obo/GO_0006415		
GO:0006412	biolink:NamedThing	translation	The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome.		mondo.json	protein anabolism|protein biosynthetic process|protein biosynthesis|protein synthesis|protein formation|protein translation	http://purl.obolibrary.org/obo/GO_0006412		
GO:0006413	biolink:NamedThing	translational initiation	The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA.		mondo.json	translation initiation|biopolymerisation|protein synthesis initiation|biopolymerization	http://purl.obolibrary.org/obo/GO_0006413		
HGNC:3823	biolink:NamedThing	FOXP1			mondo.json		http://identifiers.org/hgnc/3823		
CHEBI:22691	biolink:ChemicalSubstance	barbiturate anion			mondo.json		http://purl.obolibrary.org/obo/CHEBI_22691		
UBERON:0005604	biolink:AnatomicalEntity	extrahepatic part of hepatic duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005604		
UBERON:0029636	biolink:AnatomicalEntity	lumbar spinal cord gray matter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0029636		
UBERON:0005602	biolink:AnatomicalEntity	dorsal mesogastrium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005602		
UBERON:0017651	biolink:AnatomicalEntity	salivary gland primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0017651		
UBERON:0017650	biolink:AnatomicalEntity	developing mesenchymal structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0017650		
UBERON:0017659	biolink:AnatomicalEntity	ventral surface of penis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0017659		
UBERON:0017654	biolink:AnatomicalEntity	buccal gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0017654		
UBERON:0005673	biolink:AnatomicalEntity	left lung endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005673		
UBERON:0005672	biolink:AnatomicalEntity	right lung endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005672		
UBERON:0005670	biolink:AnatomicalEntity	greater omentum mesothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005670		
UBERON:0005677	biolink:AnatomicalEntity	caecum mesentery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005677		
MONDO:0008807	biolink:Disease	apnea, central sleep		OMIM:207720|OMIM:107640|UMLS:C0520680	mondo.json	sleep apnea, lethal central|apnea, central sleep	http://purl.obolibrary.org/obo/MONDO_0008807	https://omim.org/entry/207720|UMLS:C0520680|https://omim.org/entry/107640	
MONDO:0008806	biolink:Disease	Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome	Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.	OMIM:207620|Orphanet:1112|MESH:C535881|GARD:0003051|SCTID:733118006|UMLS:C1859754	mondo.json	Aphalangy of the hands and feet, hemivertebrae, and visceral malformations|Johnson Munson syndrome|Johnson-Munson syndrome|APHALANGY with hemivertebrae	http://purl.obolibrary.org/obo/MONDO_0008806	https://omim.org/entry/207620|http://identifiers.org/mesh/C535881|http://identifiers.org/snomedct/733118006|UMLS:C1859754|Orphanet:1112	ordo_malformation_syndrome
MONDO:0008805	biolink:Disease	obsolete Takayasu's arteritis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008805		
MONDO:0008804	biolink:Disease	obsolete anus, imperforate			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008804		
MONDO:0008803	biolink:Disease	Antley-Bixler syndrome	Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.	DOID:0050462|Orphanet:83|GARD:0005826|SCTID:62964007	mondo.json	osteodysgenesis, multisynostotic, with fractures|trapezoidocephaly synostosis syndrome|multisynostotic osteodysgenesis with long bone fractures|Antley Bixler syndrome|trapezoidocephaly-synostosis syndrome|osteodysgenesis, multisynostotic with fractures	http://purl.obolibrary.org/obo/MONDO_0008803	DOID:0050462|Orphanet:83|http://identifiers.org/snomedct/62964007	gard_rare|ordo_malformation_syndrome
MONDO:0008802	biolink:Disease	antithrombin, familial hemorrhagic diathesis due to		OMIM:207300|MESH:C565947|UMLS:C1859761	mondo.json	antithrombin, familial hemorrhagic diathesis due to	http://purl.obolibrary.org/obo/MONDO_0008802	https://omim.org/entry/207300|http://identifiers.org/mesh/C565947|UMLS:C1859761	
MONDO:0008801	biolink:Disease	anosmia for isobutyric acid		OMIM:207000	mondo.json	anosmia for isobutyric acid	http://purl.obolibrary.org/obo/MONDO_0008801	https://omim.org/entry/207000	
MONDO:0008800	biolink:Disease	microphthalmia with limb anomalies	Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.	Orphanet:1106|ICD9:755.8|SCTID:703403003|OMIM:206920|GARD:0000722|MESH:C537769|DOID:0060861	mondo.json	OAS|microphthalmia with limb anomalies|MLA|anophthalmos-syndactyly|anophthalmos with limb anomalies|anophthalmia-syndactyly syndrome|ophthalmoacromelic syndrome|anophthalmia-syndactyly|Ophthalmoacromelic syndrome|Waardenburg anophthalmia syndrome|anophthalmia Waardenburg syndrome	http://purl.obolibrary.org/obo/MONDO_0008800	http://identifiers.org/snomedct/703403003|https://omim.org/entry/206920|DOID:0060861|Orphanet:1106|http://identifiers.org/mesh/C537769	ordo_malformation_syndrome
UBERON:0017648	biolink:AnatomicalEntity	ventral body wall			mondo.json		http://purl.obolibrary.org/obo/UBERON_0017648		
UBERON:0017649	biolink:AnatomicalEntity	dorsal body wall			mondo.json		http://purl.obolibrary.org/obo/UBERON_0017649		
CHR:9606-chr7q11.2	biolink:NamedThing	7q11.2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr7q11.2		
UBERON:0005662	biolink:AnatomicalEntity	4th arch ectoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005662		
UBERON:0005661	biolink:AnatomicalEntity	3rd arch ectoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005661		
UBERON:0005660	biolink:AnatomicalEntity	2nd arch ectoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005660		
UBERON:0005669	biolink:AnatomicalEntity	peritoneal cavity mesothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005669		
CHEBI:46629	biolink:ChemicalSubstance	oxo group			mondo.json	=O|oxo|OXO GROUP	http://purl.obolibrary.org/obo/CHEBI_46629		
UBERON:0005667	biolink:AnatomicalEntity	connecting stalk mesoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005667		
UBERON:0005666	biolink:AnatomicalEntity	4th arch endoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005666		
UBERON:0005665	biolink:AnatomicalEntity	3rd arch endoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005665		
UBERON:0005664	biolink:AnatomicalEntity	2nd arch endoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005664		
FOODON:03302116	biolink:NamedThing	cow milk (liquid)		SUBSET_SIREN:F2116	mondo.json	cow milk|milk	http://purl.obolibrary.org/obo/FOODON_03302116		"subset_siren"
HGNC:3858	biolink:NamedThing	FRA16B			mondo.json		http://identifiers.org/hgnc/3858		
UBERON:0017635	biolink:AnatomicalEntity	paired venous dural sinus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0017635		
UBERON:0005658	biolink:AnatomicalEntity	secondary palatal shelf epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005658		
UBERON:0005656	biolink:AnatomicalEntity	lens vesicle epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005656		
HGNC:3861	biolink:NamedThing	FRA16E			mondo.json		http://identifiers.org/hgnc/3861		
UBERON:0005652	biolink:AnatomicalEntity	pedal digit 5 epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005652		
UBERON:0005638	biolink:AnatomicalEntity	anterior chamber epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005638		
UBERON:0005648	biolink:AnatomicalEntity	manual digit 5 epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005648		
MONDO:0018084	biolink:Disease	Uhl anomaly	Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation.	GARD:0005393|Orphanet:3403|MESH:C536932|OMIM:107970|MedDRA:10048951	mondo.json	Uhl's anomaly|parchment right ventricle	http://purl.obolibrary.org/obo/MONDO_0018084	Orphanet:3403|http://identifiers.org/mesh/C536932	ordo_morphological_anomaly
MONDO:0018083	biolink:Disease	transient tyrosinemia of the newborn	Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age.	GARD:0005388|UMLS:CN204402|Orphanet:3402	mondo.json	tyrosine-oxidase temporary deficiency|transient tyrosinemia of the neonate|transient neonatal tyrosinemia	http://purl.obolibrary.org/obo/MONDO_0018083	UMLS:CN204402|Orphanet:3402	ordo_disease
MONDO:0018086	biolink:Disease	ulerythema ophryogenesis	Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.	GARD:0005395|Orphanet:3406	mondo.json	keratosis pilaris affecting the follicles of the eyebrow hairs|type of genodermatosis	http://purl.obolibrary.org/obo/MONDO_0018086	Orphanet:3406	gard_rare|ordo_disease
MONDO:0018085	biolink:Disease	umbilical cord ulceration-intestinal atresia syndrome	Umbilical cord ulceration-intestinal atresia syndrome is characterised by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine haemorrhage.	UMLS:C2931371|GARD:0005403|MESH:C536938|Orphanet:3405	mondo.json	umbilical cord ulcer with intestinal atresia|umbilical ulceration and intestinal atresia|umbilical cord ulceration and intestinal atresia	http://purl.obolibrary.org/obo/MONDO_0018085	UMLS:C2931371|Orphanet:3405|http://identifiers.org/mesh/C536938	ordo_malformation_syndrome
MONDO:0018080	biolink:Disease	obsolete rare germ cell tumor	OBSOLETE. Rare germ cell tumor.	SCTID:402878003|Orphanet:3399	mondo.json	rare germ cell tumor|germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0018080	Orphanet:3399|http://identifiers.org/snomedct/402878003	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0018082	biolink:Disease	aorto-ventricular tunnel	Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle.	MESH:D000082903|HP:0011627|UMLS:CN225932|Orphanet:3400	mondo.json	aorto-ventricular tunnel|aorto-ventricular tunnel (disease)	http://purl.obolibrary.org/obo/MONDO_0018082	http://identifiers.org/mesh/D000082903|Orphanet:3400|UMLS:CN225932	ordo_morphological_anomaly
MONDO:0018081	biolink:Disease	hemorrhagic fever-renal syndrome	Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations.	UMLS:C2930957|Orphanet:340|ICD10EXP:A98.5+|ICD10EXP:N08.0*|UMLS:CN204401|MedDRA:10023484|MESH:C535630	mondo.json	Hantavirus fever|Hantavirosis	http://purl.obolibrary.org/obo/MONDO_0018081	UMLS:CN204401|UMLS:C2930957|Orphanet:340|http://identifiers.org/mesh/C535630	ordo_disease
GO:0043574	biolink:NamedThing	peroxisomal transport	Transport of substances into, out of or within a peroxisome, a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules.		mondo.json		http://purl.obolibrary.org/obo/GO_0043574		
GO:0043576	biolink:NamedThing	regulation of respiratory gaseous exchange	Any process that modulates the frequency, rate or extent of the process of gaseous exchange between an organism and its environment.		mondo.json		http://purl.obolibrary.org/obo/GO_0043576		
MONDO:0006099	biolink:Disease	obsolete B-cell prolymphocytic leukemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006099		
MONDO:0006097	biolink:Disease	atypical lipomatous tumor	An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes.	NCIT:C4250|NCIT:C6505|ICDO:8850/1|DOID:5690|UMLS:C1370889|EFO:1000099	mondo.json	well differentiated liposarcoma of superficial soft tissue|Atypical lipoma|well differentiated liposarcoma|liposarcoma, well differentiated (morphologic abnormality)|lipoma-like liposarcoma|superficial well differentiated liposarcoma|ALT	http://purl.obolibrary.org/obo/MONDO_0006097	NCIT:C6505|DOID:5690	
MONDO:0006098	biolink:Disease	atypical lobular breast hyperplasia	Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast.	SCTID:450697004|ICD9:610.8|NCIT:C4730|EFO:1000100	mondo.json	atypical lobular hyperplasia of breast|atypical lobular hyperplasia of the breast|atypical lobular breast hyperplasia|atypical lobular hyperplasia|ALH|atypical breast lobular hyperplasia	http://purl.obolibrary.org/obo/MONDO_0006098	http://identifiers.org/snomedct/450697004|NCIT:C4730	
MONDO:0006095	biolink:Disease	atypical carcinoid tumor	A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism.	NCIT:C72074|SCTID:445238008|UMLS:C1266032|UMLS:C0391970|EFO:1000097	mondo.json	atypical carcinoid tumor|malignant carcinoid tumor	http://purl.obolibrary.org/obo/MONDO_0006095	NCIT:C72074|UMLS:C1266032|UMLS:C0391970|http://identifiers.org/snomedct/445238008	
MONDO:0006096	biolink:Disease	atypical endometrial hyperplasia	An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear.	NCIT:C4654|ICD9:621.33|UMLS:C0349579|SCTID:277158007|EFO:1000098	mondo.json	atypical hyperplasia of the endometrium|atypical hyperplasia of endometrium|endometrial hyperplasia with atypia	http://purl.obolibrary.org/obo/MONDO_0006096	UMLS:C0349579|NCIT:C4654|http://identifiers.org/snomedct/277158007	
MONDO:0006093	biolink:Disease	ascending colon neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	EFO:1000094|UMLS:C1332340|NCIT:C6427	mondo.json	ascending colon carcinoid tumor|ascending colon neuroendocrine tumor G1|ascending colon carcinoid tumor (disease)|ascending colon neuroendocrine tumor, well differentiated, low grade|grade 1 neuroendocrine neoplasm of ascending colon|ascending colon NET G1|carcinoid tumor of the ascending colon|carcinoid tumor of ascending colon|ascending colon neuroendocrine neoplasm G1	http://purl.obolibrary.org/obo/MONDO_0006093	NCIT:C6427|UMLS:C1332340	
MONDO:0006094	biolink:Disease	Askin tumor	A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma.	EFO:1000095|DOID:0050608|UMLS:C0877849|MESH:C563168|NCIT:C7542|ICDO:9365/3	mondo.json	Askin tumor|peripheral neuroectodermal tumor of thoracopulmonary region|small cell tumor of thoracopulmonary region|Askin's tumor|PNET of thoracopulmonary region	http://purl.obolibrary.org/obo/MONDO_0006094	UMLS:C0877849|DOID:0050608|http://identifiers.org/mesh/C563168|NCIT:C7542	
MONDO:0006091	biolink:Disease	appendix neuroendocrine tumor G1	A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	EFO:1000092|DOID:0050911|ICDO:8240/1|UMLS:C0334298|NCIT:C4138|SCTID:253002004|ICD9:209.11	mondo.json	appendix carcinoid tumor|appendiceal carcinoid tumor|appendix carcinoid endocrine tumour|vermiform appendix neuroendocrine tumor, well differentiated, low grade|appendix NET G1 (carcinoid)|vermiform appendix carcinoid tumor (disease)|appendix neuroendocrine tumor G1 (carcinoid)|grade 1 neuroendocrine neoplasm of vermiform appendix|vermiform appendix carcinoid tumor|vermiform appendix neuroendocrine neoplasm G1|carcinoid tumor of appendix|carcinoid tumor of the appendix|vermiform appendix NET G1|appendix NET G1	http://purl.obolibrary.org/obo/MONDO_0006091	NCIT:C4138|UMLS:C0334298|http://identifiers.org/snomedct/253002004|DOID:0050911	
PATO:0001332	biolink:NamedThing	amorphous	A morphology quality inhering in a bearer by virtue of the bearer's lack of distinct morphology.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001332		
MONDO:0006092	biolink:Disease	appendix villous adenoma	An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia.	EFO:1000093|NCIT:C5512|UMLS:C1332329	mondo.json	vermiform appendix villous adenoma|villous adenoma of appendix|villous adenoma of the appendix|appendix villous adenoma	http://purl.obolibrary.org/obo/MONDO_0006092	NCIT:C5512|UMLS:C1332329	
MONDO:0006090	biolink:Disease	appendix hyperplastic polyp	A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia.	NCIT:C96416|UMLS:C3272761|EFO:1000091	mondo.json	appendix metaplastic polyp|vermiform appendix hyperplastic polyp	http://purl.obolibrary.org/obo/MONDO_0006090	NCIT:C96416|UMLS:C3272761	
MONDO:0018088	biolink:Disease	familial Mediterranean fever	Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.	NCIT:C84707|GARD:0006421|UMLS:C0031069|DOID:2987|ICD9:277.31|MESH:D010505|MedDRA:10016207|Orphanet:342|SCTID:12579009	mondo.json	benign recurrent polyserositis|periodic disease|FMF|familial paroxysmal polyserositis|benign paroxysmal peritonitis	http://purl.obolibrary.org/obo/MONDO_0018088	http://identifiers.org/mesh/D010505|http://identifiers.org/snomedct/12579009|DOID:2987|NCIT:C84707|UMLS:C0031069|Orphanet:342	ordo_disease
MONDO:0018087	biolink:Disease	viral hemorrhagic fever	A viral infectious disease caused by RNA viruses in the Arenaviridae, Bunyaviridae, Filoviridae, or Flaviviridae family, and characterized by a severe multisystem syndrome, with damage to the vascular system and hemorrhaging.	MESH:D006482|NCIT:C36170|UMLS:CN204409|Orphanet:341|UMLS:C0019104|GARD:0005494|SCTID:240523007	mondo.json	hemorrhagic fevers|VHFs|viral haemorrhagic fever|haemorrhagic fevers, viral|haemorrhagic fever|hemorrhagic fever|VHF	http://purl.obolibrary.org/obo/MONDO_0018087	http://identifiers.org/mesh/D006482|UMLS:CN204409|NCIT:C36170|Orphanet:341|http://identifiers.org/snomedct/240523007|UMLS:C0019104	gard_rare|ordo_group_of_disorders|disease_grouping
MONDO:0018089	biolink:Disease	double outlet right ventricle	Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle.	SCTID:204299009|GARD:0001908|NCIT:C98916|MESH:D004310|UMLS:C0013069|MedDRA:10013611|DOID:6406|Orphanet:3426	mondo.json	Dextrotransposition of aorta|double outlet right ventricle|DORV	http://purl.obolibrary.org/obo/MONDO_0018089	NCIT:C98916|http://identifiers.org/snomedct/204299009|http://identifiers.org/mesh/D004310|Orphanet:3426|DOID:6406|UMLS:C0013069	ordo_morphological_anomaly|gard_rare
MONDO:0018073	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0018073		
MONDO:0018072	biolink:Disease	persistent truncus arteriosus	A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death.	Orphanet:3384|MESH:D014339|GARD:0007375|NCIT:C98880	mondo.json	truncus arteriosus|common aorticopulmonary trunk|persistent truncus arteriosus|persistent truncus arteriosus (disease)|common truncus arteriosus|common arterial trunk|TAC	http://purl.obolibrary.org/obo/MONDO_0018072	NCIT:C98880|Orphanet:3384|http://identifiers.org/mesh/D014339	ordo_morphological_anomaly
MONDO:0018075	biolink:Disease	neural tube defect	A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida.	Orphanet:3388|DOID:0080074|ICD9:742.8|SCTID:253098009|MESH:D009436|NCIT:C84923	mondo.json	spinal dysraphism|NTD	http://purl.obolibrary.org/obo/MONDO_0018075	NCIT:C84923|Orphanet:3388|DOID:0080074|http://identifiers.org/mesh/D009436|http://identifiers.org/snomedct/253098009	ordo_group_of_disorders|disease_grouping
MONDO:0018074	biolink:Disease	obsolete American trypanosomiasis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018074		
MONDO:0018071	biolink:Disease	trisomy 18	Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.	DOID:1085|MESH:C580500|GARD:0006321|Orphanet:3380|MedDRA:10053884|SCTID:51500006|NCIT:C36626|UMLS:C0152096|ICD9:758.2	mondo.json	trisomy type 18|trisomy E (formerly)|18 trisomy|complete trisomy 18 syndrome|trisomy 18|chromosome 18 duplication|Edwards syndrome|chromosome 18 trisomy|trisomy 16-18 (formerly)|E3 trisomy	http://purl.obolibrary.org/obo/MONDO_0018071	DOID:1085|http://identifiers.org/mesh/C580500|http://identifiers.org/snomedct/51500006|UMLS:C0152096|Orphanet:3380	ordo_malformation_syndrome
MONDO:0018070	biolink:Disease	familial multiple fibrofolliculoma	Familial multiple fibrofolliculoma is a genodermatosis characterised by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far.	UMLS:C4509837|GARD:0003831|Orphanet:338|SCTID:723361006|UMLS:CN204388	mondo.json	multiple fibrofolliculoma familial	http://purl.obolibrary.org/obo/MONDO_0018070	http://identifiers.org/snomedct/723361006|UMLS:CN204388|Orphanet:338	ordo_disease|gard_rare
GO:0043588	biolink:NamedThing	skin development	The process whose specific outcome is the progression of the skin over time, from its formation to the mature structure. The skin is the external membranous integument of an animal. In vertebrates the skin generally consists of two layers, an outer nonsensitive and nonvascular epidermis (cuticle or skarfskin) composed of cells which are constantly growing and multiplying in the deeper, and being thrown off in the superficial layers, as well as an inner vascular dermis (cutis, corium or true skin) composed mostly of connective tissue.		mondo.json	animal skin development	http://purl.obolibrary.org/obo/GO_0043588		
MONDO:0018077	biolink:Disease	tularemia	Tularemia is an infection caused by the bacterium Francisella tularensis. It is more common in rodents and rabbits but has been found in other animals including domestic cats, sheep, birds, and hamsters. Humans can become infected in several different ways: by handling infected animals, through tick or deer fly bites, by drinking contaminated water, or by inhaling contaminated dust or aerosols. Person-to-person transmission has not been reported. The type of tularemia and the particular signs and symptoms vary depending on how the bacteria enter the body. However, fever is seen in most cases. Though tularemia can be life-threatening, most infections can be treated with antibiotics.	UMLS:C0041351|NCIT:C85208|DOID:2123|SCTID:19265001|GARD:0000396|ICD9:021.8|MESH:D014406|Orphanet:3392|ICD10CM:A21|EFO:1001444|ICD9:021.9|MedDRA:10045146	mondo.json	Ohara disease|Francisella tularensis infectious disease|Yatobyo (Japan)|Francisella tularensis caused disease or disorder|rabbit fever|lemming fever|Pahvant Valley plague|Francisella tularensis infection|Deerfly fever|Francisella tularensis disease or disorder	http://purl.obolibrary.org/obo/MONDO_0018077	DOID:2123|NCIT:C85208|Orphanet:3392|http://identifiers.org/mesh/D014406|http://identifiers.org/snomedct/19265001|http://purl.bioontology.org/ontology/ICD10CM/A21|UMLS:C0041351	ordo_disease|gard_rare
MONDO:0018076	biolink:Disease	tuberculosis	A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use.	Orphanet:3389|MESH:D014376|SCTID:56717001|DOID:399|UMLS:C0151332|ICD9:017.96|UMLS:C0041296|MedDRA:10044755|NCIT:C3423|ICD9:017.94|ICD9:017.92|GARD:0007827|ICD10CM:A15-A19|ICD9:017.90	mondo.json	tuberculosis disease|Kochs disease|TB|active tuberculosis	http://purl.obolibrary.org/obo/MONDO_0018076	http://purl.bioontology.org/ontology/ICD10CM/A15-A19|NCIT:C3423|Orphanet:3389|http://identifiers.org/mesh/D014376|UMLS:C0151332|DOID:399|UMLS:C0041296|http://identifiers.org/snomedct/56717001	gard_rare|ordo_disease
MONDO:0018079	biolink:Disease	thymic epithelial neoplasm	An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas.	UMLS:C1266101|Orphanet:3398|NCIT:C6450|ONCOTREE:TET|ICD10CM:D15.0|MESH:C536905|GARD:0005201	mondo.json	Tet|epithelial neoplasm of Thymus|epithelial neoplasm of the Thymus|epithelial tumor of Thymus|TEN|thymoma, adult|epithelial tumor of the Thymus|thymus epithelial neoplasm|Thymus epithelial tumor|thymic epithelial tumor|Thymus epithelial neoplasm|thymic epithelium neoplasm	http://purl.obolibrary.org/obo/MONDO_0018079	http://identifiers.org/mesh/C536905|NCIT:C6450|Orphanet:3398|UMLS:C1266101	ordo_group_of_disorders|disease_grouping
MONDO:0018078	biolink:Disease	soft tissue sarcoma	A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones.	GARD:0004898|UMLS:CN204398|EFO:1001968|Orphanet:3394|NCIT:C9306|SCTID:424952003	mondo.json	malignant mesenchymal tumor|soft tissue sarcoma|sarcoma of the soft tissue|sarcoma of soft tissue|non-Rhabdo. soft tissue sarcoma|connective tissue sarcoma|malignant soft tissue tumor|soft part sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	UMLS:CN204398|http://identifiers.org/snomedct/424952003|Orphanet:3394|NCIT:C9306	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0018062	biolink:Disease	autosomal dominant trichoodontoonychodysplasia-syndactyly		MESH:C536565|GARD:0005376|Orphanet:3357|UMLS:C2931239	mondo.json	Trueb Burg Bottani syndrome|Tricho-odonto-onychodysplasia with syndactyly|Trueb-Burg-Bottani syndrome|ectodermal dysplasia with corkscrew hairs	http://purl.obolibrary.org/obo/MONDO_0018062	UMLS:C2931239|http://identifiers.org/mesh/C536565	ordo_malformation_syndrome
MONDO:0018061	biolink:Disease	trichodermodysplasia-dental alterations syndrome	Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.	GARD:0004369|MESH:C537402|UMLS:C2931485|Orphanet:3353	mondo.json	Trichodermodysplasia with dental alterations|Pinheiro Freire-Maia Miranda syndrome|Pinheiro-Freire Maia-Miranda syndrome	http://purl.obolibrary.org/obo/MONDO_0018061	UMLS:C2931485|Orphanet:3353|http://identifiers.org/mesh/C537402	ordo_malformation_syndrome
MONDO:0018064	biolink:Disease	trigonocephaly-broad thumbs syndrome	Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.	Orphanet:3365|GARD:0002756|SCTID:719949001	mondo.json	Hunter Rudd Hoffmann syndrome|Hunter-Rudd-Hoffmann syndrome	http://purl.obolibrary.org/obo/MONDO_0018064	http://identifiers.org/snomedct/719949001|Orphanet:3365	ordo_malformation_syndrome
MONDO:0018063	biolink:Disease	nodular non-suppurative panniculitis	Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat.	GARD:0007879|DOID:1525|MedDRA:10047883|MESH:D010201|Orphanet:33577|SCTID:33760009|UMLS:C0030328|EFO:1000742	mondo.json	panniculitis nodular nonsuppurative|Weber Christian disease|Weber-Christian disease|idiopathic nodular panniculitis|Weber-Christian panniculitis|Weber - Christian disease|Pfeiffer-Weber-Christian syndrome|nodular non-suppurative febrile panniculitis|WCD|Relapsing febrile nodular nonsuppurative panniculitis|Relapsing febrile nodular panniculitis|idiopathic lobular panniculitis|nodular nonsuppurative panniculitis	http://purl.obolibrary.org/obo/MONDO_0018063	http://identifiers.org/mesh/D010201|DOID:1525|http://identifiers.org/snomedct/33760009|Orphanet:33577|UMLS:C0030328	ordo_disease
MONDO:0018060	biolink:Disease	congenital fibrinogen deficiency	Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia).	Orphanet:335|GARD:0002320	mondo.json	fibrinogen deficiency, congenital|congenital fibrinogen deficiency	http://purl.obolibrary.org/obo/MONDO_0018060	Orphanet:335	ordo_disease|gard_rare
MONDO:0043069	biolink:Disease	Zerres Rietschel Majewski syndrome		GARD:0000338|MESH:C536724|UMLS:C2931301	mondo.json	postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and intellectual disability|postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation	http://purl.obolibrary.org/obo/MONDO_0043069	http://identifiers.org/mesh/C536724|UMLS:C2931301	gard_rare
MONDO:0006079	biolink:Disease	ameloblastic carcinoma	A rare, cytologically malignant ameloblastoma that may metastasize.	EFO:1000078|NCIT:C7492|Orphanet:314422|GARD:0011855|UMLS:C1314678	mondo.json	odontoma, ameloblastic, malignant|ameloblastic carcinoma	http://purl.obolibrary.org/obo/MONDO_0006079	UMLS:C1314678|Orphanet:314422|NCIT:C7492	gard_rare|ordo_disease
MONDO:0006077	biolink:Disease	adrenal medullary hyperplasia	A hyperplasia that involves the adrenal medulla.	NCIT:C35838|EFO:1000076	mondo.json	adrenal medulla hyperplasia	http://purl.obolibrary.org/obo/MONDO_0006077	NCIT:C35838	
MONDO:0006078	biolink:Disease	AIDS-related primary central nervous system lymphoma	A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients.	EFO:1000077|NCIT:C8284|UMLS:C0281241	mondo.json	AIDS-related primary CNS lymphoma|AIDS related lymphoma of primary central nervous system|AIDS related primary central nervous system lymphoma|AIDS related lymphoma of the primary central nervous system|AIDS-related lymphoma of primary central nervous system|AIDS-related lymphoma of the primary central nervous system|AIDS related primary CNS lymphoma	http://purl.obolibrary.org/obo/MONDO_0006078	NCIT:C8284|UMLS:C0281241	
MONDO:0006075	biolink:Disease	adrenal gland myelolipoma	A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues.	EFO:1000074|SCTID:719049003|MESH:D018209|NCIT:C3736|UMLS:C0206635|ICDO:8870/0	mondo.json	Myelolipoma|MYELOLIPOMA, benign|adrenal gland myelolipoma	http://purl.obolibrary.org/obo/MONDO_0006075	UMLS:C0206635|http://identifiers.org/mesh/D018209|http://identifiers.org/snomedct/719049003|NCIT:C3736	
MONDO:0006076	biolink:Disease	adrenal gland neuroblastoma	A neuroblastoma arising from the adrenal gland.	UMLS:C0559460|EFO:1000075|SCTID:281562007|NCIT:C4827|DOID:5718	mondo.json	neuroblastoma of adrenal gland|adrenal neuroblastoma|neuroblastoma of the adrenal gland|neuroblastoma of the adrenal|neuroblastoma of adrenal|adrenal gland neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0006076	DOID:5718|UMLS:C0559460|http://identifiers.org/snomedct/281562007|NCIT:C4827	
MONDO:0006073	biolink:Disease	adenomatoid odontogenic tumor	A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare.	MESH:C538229|ICDO:9300/0|EFO:1000072|NCIT:C4310	mondo.json	adenomatoid odontogenic neoplasm	http://purl.obolibrary.org/obo/MONDO_0006073	NCIT:C4310|http://identifiers.org/mesh/C538229	
MONDO:0006074	biolink:Disease	adenosquamous carcinoma	A carcinoma composed of malignant glandular cells and malignant squamous cells.	ICDO:8560/3|DOID:4830|MESH:D018196|EFO:1000073|NCIT:C3727|SCTID:403902008|UMLS:C0206623	mondo.json	mixed adenocarcinoma and squamous carcinoma|mixed adenocarcinoma and squamous cell carcinoma|adenosquamous carcinoma (morphologic abnormality)|adenosquamous carcinoma|mixed adenocarcinoma and epidermoid cell carcinoma|mixed adenocarcinoma and epidermoid carcinoma|carcinoma, adenosquamous, malignant|adenosquamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006074	UMLS:C0206623|DOID:4830|http://identifiers.org/mesh/D018196|http://identifiers.org/snomedct/403902008|NCIT:C3727	
MONDO:0006071	biolink:Disease	adenofibroma	A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported.	DOID:2683|ICDO:9013/0|EFO:1000070|MESH:D000232|UMLS:C0001422|NCIT:C8984	mondo.json	adenofibroma, no ICD-O subtype (morphologic abnormality)|female reproductive system adenofibroma|adenofibroma, no ICD-O subtype|benign mixed Muellerian tumor|adenofibroma, benign	http://purl.obolibrary.org/obo/MONDO_0006071	NCIT:C8984|DOID:2683|UMLS:C0001422|http://identifiers.org/mesh/D000232	
MONDO:0006072	biolink:Disease	obsolete adenoid cystic breast carcinoma	OBSOLETE. An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0006072		
MONDO:0006070	biolink:Disease	obsolete acute leukemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006070		
MONDO:0018069	biolink:Disease	distal trisomy 17q	Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.	Orphanet:3379|SCTID:766051001	mondo.json	trisomy 17qter|distal duplication 17q|telomeric duplication 17q|distal trisomy type 17q	http://purl.obolibrary.org/obo/MONDO_0018069	http://identifiers.org/snomedct/766051001|Orphanet:3379	ordo_malformation_syndrome
MONDO:0018066	biolink:Disease	trisomy X	Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX).	SCTID:35111009|NCIT:C129718|Orphanet:3375|GARD:0005672|UMLS:C0221033|MESH:C535318	mondo.json	Triplo X syndrome|Triplo-X syndrome|trisomy X|47 XXX syndrome|47,XXX syndrome|trisomy type X|triple X syndrome|triple-X female|47,XXX|triple-X chromosome syndrome|XXX syndrome	http://purl.obolibrary.org/obo/MONDO_0018066	NCIT:C129718|UMLS:C0221033|http://identifiers.org/mesh/C535318|Orphanet:3375|http://identifiers.org/snomedct/35111009	ordo_malformation_syndrome|gard_rare
HGNC:31399	biolink:NamedThing	SLC6A17			mondo.json		http://identifiers.org/hgnc/31399		
MONDO:0018065	biolink:Disease	isolated trigonocephaly	Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.	Orphanet:3366|UMLS:CN236409|OMIMPS:190440|UMLS:CN239481	mondo.json	nonsyndromic trigonocephaly|non-syndromic metopic craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0018065	UMLS:CN236409|https://omim.org/phenotypicSeries/PS190440|Orphanet:3366|UMLS:CN239481	ordo_morphological_anomaly
MONDO:0018068	biolink:Disease	trisomy 13	Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.	MESH:C536305|Orphanet:3378|DOID:11665|UMLS:CN204386|SCTID:21111006|UMLS:C0152095|ICD9:758.1|NCIT:C36529|NCIT:C101223|GARD:0007341|MedDRA:10044686	mondo.json	trisomy 13|Patau's syndrome|chromosome 13, trisomy 13 complete|trisomy type 13|D1 trisomy|D trisomy syndrome (formerly)|Patau syndrome|complete trisomy 13 syndrome	http://purl.obolibrary.org/obo/MONDO_0018068	http://identifiers.org/mesh/C536305|NCIT:C101223|http://identifiers.org/snomedct/21111006|DOID:11665|UMLS:CN204386|UMLS:C0152095|Orphanet:3378	ordo_malformation_syndrome
MONDO:0018067	biolink:Disease	triploidy	Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person.	UMLS:C0333693|Orphanet:3376|NCIT:C85204|SCTID:66651005|ICD9:758.89|GARD:0005295|MESH:D057885	mondo.json	triploid syndrome|triploidy syndrome|chromosome triploidy syndrome	http://purl.obolibrary.org/obo/MONDO_0018067	NCIT:C85204|Orphanet:3376|UMLS:C0333693|http://identifiers.org/snomedct/66651005|http://identifiers.org/mesh/D057885	ordo_malformation_syndrome|gard_rare
MONDO:0043073	biolink:Disease	Zadik-Barak-Levin syndrome		UMLS:C2931298|MESH:C536721|GARD:0000340	mondo.json	dermoid cysts, hypothyroidism, cleft palate and hypodontia|dermoid cysts, hypothyroidism, cleft palate, and hypodontia	http://purl.obolibrary.org/obo/MONDO_0043073	http://identifiers.org/mesh/C536721|UMLS:C2931298	gard_rare
MONDO:0018051	biolink:Disease	Jessner lymphocytic infiltration of the skin	Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck.	Orphanet:33314|UMLS:C0580181|GARD:0006940	mondo.json	Jessner-Kanof syndrome|benign chronic T-cell infiltrative disorder|benign lymphocytic infiltration|Jessner disease|lymphocytic infiltrate of Jessner|Jessner-Kanof lymphocytic infiltration of the skin	http://purl.obolibrary.org/obo/MONDO_0018051	UMLS:C0580181|Orphanet:33314	ordo_disease|gard_rare
MONDO:0018050	biolink:Disease	tibial aplasia-ectrodactyly syndrome	Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.	Orphanet:3329|GARD:0001369	mondo.json	SHFM associated with aplasia of long bones|split-hand/foot malformation with long bone deficiency|TH-SHFM|tibial hemimelia with split hand/foot malformation|aplasia of tibia with ectrodactyly|SHFLD|tibial aplasia with split-hand/split-foot deformity|split hand/foot malformation with long bone deficiency|ectrodactyly with aplasia of long bones|tibial hemimelia-ectrodactyly syndrome|split-hand/foot malformation associated with aplasia of long bones|aplasia of tibia with split-hand/split-foot deformity|SHFLD syndrome	http://purl.obolibrary.org/obo/MONDO_0018050	Orphanet:3329	ordo_malformation_syndrome|gard_rare
MONDO:0043075	biolink:Disease	neuroaxonal dystrophy renal tubular acidosis		UMLS:C2931479|MESH:C537386|GARD:0000349	mondo.json	CNS disorder characterized by severe behavioral retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr|Maccario Mena weir syndrome	http://purl.obolibrary.org/obo/MONDO_0043075	http://identifiers.org/mesh/C537386|UMLS:C2931479	gard_rare
MONDO:0018053	biolink:Disease	trichothiodystrophy	Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins).	OMIMPS:601675|MedDRA:10044628|NCIT:C4924|SCTID:723551003|Orphanet:33364|GARD:0012109|UMLS:C1955934	mondo.json	trichothiodystrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0018053	https://omim.org/phenotypicSeries/PS601675|UMLS:C1955934|NCIT:C4924|Orphanet:33364|http://identifiers.org/snomedct/723551003	ordo_disease
MONDO:0018052	biolink:Disease	hypoplastic tibiae-postaxial polydactyly syndrome	Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands.	SCTID:716741008|Orphanet:3332|UMLS:CN204341	mondo.json	Werner mesomelic syndrome	http://purl.obolibrary.org/obo/MONDO_0018052	http://identifiers.org/snomedct/716741008|UMLS:CN204341|Orphanet:3332	ordo_malformation_syndrome
MONDO:0043071	biolink:Disease	Zazam Sheriff Phillips syndrome		MESH:C536723|UMLS:C2931300|GARD:0000339	mondo.json	aniridia, lens luxation, mental retardation|aniridia, lens luxation, intellectual disability|aniridia, ectopia lentis, abnormal upper incisors and mental retardation|aniridia, ectopia lentis, abnormal upper incisors and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0043071	http://identifiers.org/mesh/C536723|UMLS:C2931300	gard_rare
MONDO:0006088	biolink:Disease	appendix adenoma	A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe.	UMLS:C1706829|NCIT:C43550|EFO:1000089	mondo.json	appendix adenoma|vermiform appendix adenoma	http://purl.obolibrary.org/obo/MONDO_0006088	UMLS:C1706829|NCIT:C43550	
MONDO:0043077	biolink:Disease	weinstein kliman scully syndrome		UMLS:C2931289|MESH:C536688|GARD:0000392	mondo.json	primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities|cardiomyopathy, hypogonadism and metabolic anomalies	http://purl.obolibrary.org/obo/MONDO_0043077	http://identifiers.org/mesh/C536688|UMLS:C2931289	gard_rare
MONDO:0006089	biolink:Disease	obsolete appendix goblet cell carcinoid			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006089		
MONDO:0006086	biolink:Disease	angiomyxoma	A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells, and vascular proliferation in a myxoid stroma.	ICDO:8841/1|ICDO:8841/0|EFO:1000087|ICD9:215.9|MESH:D009232|NCIT:C3254|SCTID:404083008|UMLS:C0027149	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006086	http://identifiers.org/snomedct/404083008|NCIT:C3254|UMLS:C0027149|http://identifiers.org/mesh/D009232	
MONDO:0043079	biolink:Disease	acute articular rheumatism		GARD:0000518|SCTID:81077008	mondo.json	acute rheumatism|acute articular rheumatism|acute rheumatic arthritis	http://purl.obolibrary.org/obo/MONDO_0043079	http://identifiers.org/snomedct/81077008	gard_rare
MONDO:0006087	biolink:Disease	appendix adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the vermiform appendix.	EFO:1000088|ONCOTREE:APAD|NCIT:C7718|DOID:3608|UMLS:C0238003|SCTID:413445002|GARD:0010564	mondo.json	adenocarcinoma of the appendix|appendiceal adenocarcinoma|vermiform appendix adenocarcinoma|APAD|adenocarcinoma of appendix|appendix adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006087	DOID:3608|NCIT:C7718|http://identifiers.org/snomedct/413445002|UMLS:C0238003	
MONDO:0006084	biolink:Disease	obsolete angioleiomyoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006084		
MONDO:0006085	biolink:Disease	angiolipoma	A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms.	MESH:D018206|EFO:1000085|UMLS:C0206632|ICDO:8861/0|DOID:3616|SCTID:404057003|NCIT:C3733	mondo.json	angiolipoma, benign	http://purl.obolibrary.org/obo/MONDO_0006085	UMLS:C0206632|DOID:3616|http://identifiers.org/mesh/D018206|NCIT:C3733|http://identifiers.org/snomedct/404057003	
CHEBI:4469	biolink:ChemicalSubstance	(S)-amphetamine	A 1-phenylpropan-2-amine that has S configuration.		mondo.json	(2S)-1-phenylpropan-2-amine|(+)-alpha-methylphenethylamine|(S)-alpha-methylbenzeneethanamine|(alphaS)-alpha-methylbenzeneethanamine|(+)-(S)-amphetamine|(S)-(+)-amphetamine|dexamphetamine|(+)-amphetamine|d-amphetamine|(S)-amphetamine|Dextroamphetamine|(S)-1-phenyl-2-propylamine|(S)-(+)-beta-phenylisopropylamine|(+)-alpha-methylphenylethylamine|(S)-1-phenyl-2-aminopropane	http://purl.obolibrary.org/obo/CHEBI_4469		
MONDO:0006082	biolink:Disease	anal squamous cell carcinoma	A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC.	EFO:1000081|ONCOTREE:ANSC|NCIT:C9161|UMLS:C1412036|DOID:5525	mondo.json	epidermoid anal carcinoma|squamous cell carcinoma - anus|epidermoid carcinoma of anus|epidermoid carcinoma of the anus|anus squamous cell carcinoma|anal squamous cell cancer|squamous cell anal carcinoma|anal squamous cell carcinoma|squamous cell carcinoma of anus|ANSC|squamous cell carcinoma of the anus	http://purl.obolibrary.org/obo/MONDO_0006082	UMLS:C1412036|NCIT:C9161|DOID:5525	
MONDO:0006083	biolink:Disease	obsolete anaplastic large cell lymphoma, ALK-negative			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006083		
MONDO:0006080	biolink:Disease	obsolete ampulla of vater carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006080		
MONDO:0006081	biolink:Disease	anal melanoma	A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor.	ONCOTREE:ARMM|EFO:1000080|DOID:14145|SCTID:276821000|UMLS:C0349538|NCIT:C4639	mondo.json	anal malignant melanoma|malignant anus melanoma|melanoma (disease) of anus|malignant melanoma of anus|melanoma of anus|malignant melanoma of the anus|anus melanoma|melanoma of the anus|anus melanoma (disease)|anal melanoma	http://purl.obolibrary.org/obo/MONDO_0006081	UMLS:C0349538|NCIT:C4639|http://identifiers.org/snomedct/276821000|DOID:14145	
MONDO:0018059	biolink:Disease	meningococcal meningitis	An acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability.	ICD10EXP:A39.0+|ICD10EXP:G01*|MedDRA:10027276|MedDRA:10027249|DOID:0080176|ICD10CM:A39.0|UMLS:C0025294|EFO:1001040|MESH:D008585|Orphanet:33475|SCTID:192644005|ICD9:036.0	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018059	http://identifiers.org/snomedct/192644005|DOID:0080176|UMLS:C0025294|http://identifiers.org/mesh/D008585|http://purl.bioontology.org/ontology/ICD10CM/A39.0|Orphanet:33475	ordo_disease
MONDO:0018058	biolink:Disease	tracheal agenesis	Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking.	UMLS:C1261567|SCTID:3987009|NCIT:C35376|MESH:C536975|Orphanet:3346|GARD:0005233	mondo.json	congenital tracheal agenesis|tracheal absence|congenital absence of trachea	http://purl.obolibrary.org/obo/MONDO_0018058	NCIT:C35376|http://identifiers.org/mesh/C536975|http://identifiers.org/snomedct/3987009|UMLS:C1261567|Orphanet:3346	ordo_morphological_anomaly|gard_rare
MONDO:0018055	biolink:Disease	pediatric hepatocellular carcinoma	Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age.	DOID:0070322|NCIT:C7955|GARD:0009331|UMLS:CN204349|Orphanet:33402	mondo.json	childhood hepatocellular carcinoma|pediatric hepatoma|childhood carcinoma of the liver cell|childhood carcinoma of liver cell|pediatric liver cell carcinoma|Pediatric carcinoma of the liver cell|childhood hepatoma|hepatocellular cancer|pediatric carcinoma of liver cell|childhood liver cell carcinoma|pediatric HCC|childhood-onset HCC|childhood-onset hepatocellular carcinoma	http://purl.obolibrary.org/obo/MONDO_0018055	NCIT:C7955|UMLS:CN204349|DOID:0070322|Orphanet:33402	ordo_clinical_subtype
MONDO:0018054	biolink:Disease	familial atrial fibrillation	An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular.	OMIM:611819|UMLS:CN204347|OMIM:613120|Orphanet:334|DOID:0050650|GARD:0009740|OMIMPS:608583|SCTID:715395008	mondo.json	autosomal dominant atrial fibrillation|ATFB|atrial fibrillation autosomal dominant|hereditary atrial fibrillation (disease)|atrial fibrillation, familial	http://purl.obolibrary.org/obo/MONDO_0018054	Orphanet:334|DOID:0050650|UMLS:CN204347|http://identifiers.org/snomedct/715395008|https://omim.org/phenotypicSeries/PS608583	ordo_disease
MONDO:0018057	biolink:Disease	obsolete toxocariasis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018057		
MONDO:0018056	biolink:Disease	bullous lichen planus	Bullous lichen planus is a variant of rare lichen planus characterized by the development of vesico-bullous lesions.	ICD10CM:L43.1|MedDRA:10056960|SCTID:6111009|UMLS:C0023648|NCIT:C34778|Orphanet:33408	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018056	http://identifiers.org/snomedct/6111009|NCIT:C34778|UMLS:C0023648|http://purl.bioontology.org/ontology/ICD10CM/L43.1|Orphanet:33408	ordo_disease
HGNC:18391	biolink:NamedThing	SCGB3A2			mondo.json		http://identifiers.org/hgnc/18391		
MONDO:0043004	biolink:Disease	Weil's disease	A jauncice caused by severe leptospirosis.	SCTID:398067003|MESH:D014895	mondo.json	leptospirosis, icterohemorrhagic|Icterohemorrhagic leptospirosis|Weil disease|disease, Weil|spirochetal jaundice|Weils disease|Weil's disease|icteric leptospirosis|jaundice, spirochetal|disease, Weil's	http://purl.obolibrary.org/obo/MONDO_0043004	http://identifiers.org/snomedct/398067003|http://identifiers.org/mesh/D014895	
GO:0006586	biolink:NamedThing	indolalkylamine metabolic process	The chemical reactions and pathways involving indolalkylamines, indole or indole derivatives containing a primary, secondary, or tertiary amine group.		mondo.json	indolamine metabolism|indolamine metabolic process|indolalkylamine metabolism	http://purl.obolibrary.org/obo/GO_0006586		
MONDO:0043003	biolink:Disease	familial acanthosis nigricans	An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome.	UMLS:C2930792|OMIM:100600|MESH:C531598	mondo.json	acanthosis nigricans|hereditary acanthosis nigricans (disease)	http://purl.obolibrary.org/obo/MONDO_0043003	https://omim.org/entry/100600|http://identifiers.org/mesh/C531598|UMLS:C2930792	
GO:0006584	biolink:NamedThing	catecholamine metabolic process	The chemical reactions and pathways involving any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine.		mondo.json	catecholamine metabolism	http://purl.obolibrary.org/obo/GO_0006584		
MONDO:0043005	biolink:Disease	obsolete genetic multiple congenital anomalies/dysmorphic syndrome	OBSOLETE. An instance of multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome.	Orphanet:183533	mondo.json	hereditary multiple congenital anomalies/dysmorphic syndrome	http://purl.obolibrary.org/obo/MONDO_0043005	Orphanet:183533	
GO:0006590	biolink:NamedThing	thyroid hormone generation	The formation of either of the compounds secreted by the thyroid gland, mainly thyroxine and triiodothyronine. This is achieved by the iodination and joining of tyrosine molecules to form the precursor thyroglobin, proteolysis of this precursor gives rise to the thyroid hormones.		mondo.json		http://purl.obolibrary.org/obo/GO_0006590		
HGNC:31371	biolink:NamedThing	GPR179			mondo.json		http://identifiers.org/hgnc/31371		
MONDO:0033683	biolink:Disease	congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome		Orphanet:508542	mondo.json	MYSM1 deficiency	http://purl.obolibrary.org/obo/MONDO_0033683	Orphanet:508542	ordo_disease
MONDO:0033682	biolink:Disease	skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		Orphanet:508533	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033682	Orphanet:508533	ordo_disease
HGNC:18398	biolink:NamedThing	SMARCAD1			mondo.json		http://identifiers.org/hgnc/18398		
PATO:0001309	biolink:NamedThing	duration	A process quality inhering in a bearer by virtue of the bearer's magnitude of the temporal extent between the starting and ending point.		mondo.json	period|time	http://purl.obolibrary.org/obo/PATO_0001309		
GO:0006595	biolink:NamedThing	polyamine metabolic process	The chemical reactions and pathways involving polyamines, any organic compound containing two or more amino groups.		mondo.json	polyamine metabolism	http://purl.obolibrary.org/obo/GO_0006595		
PATO:0001305	biolink:NamedThing	increased temperature	A temperature which is relatively high.		mondo.json	hot|high temperature	http://purl.obolibrary.org/obo/PATO_0001305		
GO:0006591	biolink:NamedThing	ornithine metabolic process	The chemical reactions and pathways involving ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis.		mondo.json	ornithine metabolism	http://purl.obolibrary.org/obo/GO_0006591		
PATO:0001306	biolink:NamedThing	decreased temperature	A temperature which is relatively low.		mondo.json	cold|low temperature	http://purl.obolibrary.org/obo/PATO_0001306		
NCBITaxon:31704	biolink:OrganismalEntity	Coxsackievirus A16		GC_ID:1	mondo.json	CVA-16|CVA16|Human coxsackievirus A16|Coxsackie A virus type 16|Human enterovirus CVA16|Coxsackie virus A-16|CV-A16	http://purl.obolibrary.org/obo/NCBITaxon_31704		
MONDO:0043008	biolink:Disease	obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	OBSOLETE. An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome.	Orphanet:330206	mondo.json	hereditary multiple congenital anomalies/dysmorphic syndrome without intellectual disability|genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)|genetic MCA	http://purl.obolibrary.org/obo/MONDO_0043008	Orphanet:330206	
MONDO:0043007	biolink:Disease	obsolete genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome	OBSOLETE. An instance of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome that is caused by an inherited modification of the individual's genome.	Orphanet:330197	mondo.json	genetic MCA/variable MR|genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome|hereditary multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0043007	Orphanet:330197	
PATO:0001300	biolink:NamedThing	optical quality	An EM radiation quality in which the EM radiation is within the fiat range of the spectrum visible deemed to be light.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001300		
MONDO:0043009	biolink:Disease	genetic lethal multiple congenital anomalies/dysmorphic syndrome	An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome.	Orphanet:471383	mondo.json	hereditary lethal multiple congenital anomalies/dysmorphic syndrome	http://purl.obolibrary.org/obo/MONDO_0043009	Orphanet:471383	ordo_group_of_disorders|disease_grouping
MONDO:0031037	biolink:Disease	famililal cerebral cavernous malformations	A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.	OMIMPS:116860|SCTID:717003001|Orphanet:221061|UMLS:C2931263	mondo.json	cavernous malformations of CNS and retina|hereditary brain cavernous angioma|famililal cerebral cavernous malformations|hereditary cerebral cavernoma|hereditary brain cavernous hemangioma|familial cerebral cavernous malformation|hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations|cavernous angiomatous malformations|cavernous angioma, familial|cerebral capillary malformations|CCM|familial brain cavernous angioma|cerebral cavernous malformations|familial brain cavernous hemangioma|familial cerebral cavernoma|hereditary cerebral cavernous malformation	http://purl.obolibrary.org/obo/MONDO_0031037	https://omim.org/phenotypicSeries/PS116860|Orphanet:221061|UMLS:C2931263|http://identifiers.org/snomedct/717003001	ordo_malformation_syndrome
HGNC:18374	biolink:NamedThing	HPSE2			mondo.json		http://identifiers.org/hgnc/18374		
GO:0006568	biolink:NamedThing	tryptophan metabolic process	The chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid.		mondo.json	tryptophan metabolism	http://purl.obolibrary.org/obo/GO_0006568		
GO:0006564	biolink:NamedThing	L-serine biosynthetic process	The chemical reactions and pathways resulting in the formation of L-serine, the L-enantiomer of serine, i.e. (2S)-2-amino-3-hydroxypropanoic acid.		mondo.json	L-serine anabolism|L-serine synthesis|L-serine formation|L-serine biosynthesis	http://purl.obolibrary.org/obo/GO_0006564		
GO:0006563	biolink:NamedThing	L-serine metabolic process	The chemical reactions and pathways involving L-serine, the L-enantiomer of serine, i.e. (2S)-2-amino-3-hydroxypropanoic acid.		mondo.json	L-serine metabolism	http://purl.obolibrary.org/obo/GO_0006563		
GO:0006560	biolink:NamedThing	proline metabolic process	The chemical reactions and pathways involving proline (pyrrolidine-2-carboxylic acid), a chiral, cyclic, nonessential alpha-amino acid found in peptide linkage in proteins.		mondo.json	proline metabolism	http://purl.obolibrary.org/obo/GO_0006560		
GO:0018549	biolink:NamedThing	methanethiol oxidase activity	Catalysis of the reaction: methanethiol + O2 + H2O = formaldehyde + hydrogen sulfide + hydrogen peroxide.		mondo.json	methanethiol:oxygen oxidoreductase activity|(MM)-oxidase activity|methyl mercaptan oxidase activity|MT-oxidase activity|methylmercaptan oxidase activity	http://purl.obolibrary.org/obo/GO_0018549		
MONDO:0018095	biolink:Disease	Weaver-Williams syndrome	Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977.	Orphanet:3448|UMLS:CN204431	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018095	UMLS:CN204431|Orphanet:3448	ordo_malformation_syndrome
MONDO:0018094	biolink:Disease	Waardenburg syndrome	Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.	Orphanet:3440|OMIMPS:193500|MESH:D014849|NCIT:C85222|SCTID:715952000|ICD10CM:E70.3|MedDRA:10069203|GARD:0005525|DOID:9258	mondo.json	Waardenburg syndrome|Van der Hoeve Halbertsma Waardenburg Gualdi syndrome|Mende syndrome|van der Hoeve Halbertsona Waardenburg syndrome|Waardenburg Shah syndrome|Waardenburg, types I and/or II|Waardenburg's syndrome	http://purl.obolibrary.org/obo/MONDO_0018094	Orphanet:3440|http://identifiers.org/mesh/D014849|https://omim.org/phenotypicSeries/PS193500|http://identifiers.org/snomedct/715952000|NCIT:C85222|DOID:9258	ordo_disease|clingen
MONDO:0018097	biolink:Disease	West syndrome	West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.	Orphanet:3451|ICD9:348.89|UMLS:C0037769|ICD9:345.60|MedDRA:10021750|SCTID:28055006|GARD:0007887|DOID:0050562|NCIT:C84788	mondo.json	infantile spasms|X-linked infantile spasms|tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG|X-linked infantile spasm syndrome|Infantile spasms syndrome|West's syndrome|intellectual disability-hypsarrhythmia syndrome	http://purl.obolibrary.org/obo/MONDO_0018097	NCIT:C84788|Orphanet:3451|DOID:0050562|http://identifiers.org/snomedct/28055006|UMLS:C0037769	ordo_clinical_syndrome
MONDO:0018096	biolink:Disease	Weill-Marchesani syndrome	Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.	MESH:D056846|SCTID:2884008|MedDRA:10064963|OMIMPS:277600|Orphanet:3449|UMLS:C0265313|GARD:0004936|ICD9:759.89|DOID:0050475|NCIT:C85226	mondo.json	spherophakia-brachymorphia syndrome|mesodermal dysmorphodystrophy congenital|Marchesani-Weill syndrome|mesodermal Dysmorphodystrophy, congenital|congenital mesodermal dystrophy|spherophakia brachymorphia syndrome|WM syndrome|WMS	http://purl.obolibrary.org/obo/MONDO_0018096	Orphanet:3449|http://identifiers.org/mesh/D056846|UMLS:C0265313|DOID:0050475|http://identifiers.org/snomedct/2884008|https://omim.org/phenotypicSeries/PS277600|NCIT:C85226	ordo_malformation_syndrome
MONDO:0018091	biolink:Disease	microcephaly-brachydactyly-kyphoscoliosis syndrome	Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.	UMLS:C2931177|Orphanet:3433|SCTID:719378009|GARD:0005490|MESH:C536349	mondo.json	microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability|microcephaly brachydactyly kyphoscoliosis|Viljoen Kallis Voges syndrome|Viljoen-Kallis-Voges syndrome	http://purl.obolibrary.org/obo/MONDO_0018091	Orphanet:3433|http://identifiers.org/snomedct/719378009|http://identifiers.org/mesh/C536349|UMLS:C2931177	gard_rare|ordo_malformation_syndrome
MONDO:0018090	biolink:Disease	double outlet left ventricle	Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle.	SCTID:7368005|HP:0011581|Orphanet:3427|ICD9:745.19|GARD:0001907	mondo.json	DOLV|Double outlet left ventricle|double outlet left ventricle (disease)	http://purl.obolibrary.org/obo/MONDO_0018090	http://identifiers.org/snomedct/7368005|Orphanet:3427	gard_rare|ordo_morphological_anomaly
MONDO:0018093	biolink:Disease	arbovirus fever	Arbovirosis are polymorphic diseases caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed.	UMLS:CN227261|GARD:0000432|Orphanet:344	mondo.json	Arbovirosis|arbovirus fever	http://purl.obolibrary.org/obo/MONDO_0018093	UMLS:CN227261|Orphanet:344	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0018092	biolink:Disease	Vogt-Koyanagi-Harada disease	A bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations.	ICD9:364.24|UMLS:C0042170|NCIT:C85218|ICD9:363.22|SCTID:193497004|MESH:D014607|DOID:12297|Orphanet:3437|GARD:0007862	mondo.json	Vogt-Koyanagi-Harada syndrome|Harada's disease|Vogt-Koyanagi syndrome|VKH disease|uveomeningoencephalitic syndrome|VKH syndrome|Uveomenigitic syndrome	http://purl.obolibrary.org/obo/MONDO_0018092	Orphanet:3437|http://identifiers.org/mesh/D014607|UMLS:C0042170|DOID:12297|http://identifiers.org/snomedct/193497004|NCIT:C85218	gard_rare|ordo_disease
GO:0006575	biolink:NamedThing	cellular modified amino acid metabolic process	The chemical reactions and pathways involving compounds derived from amino acids, organic acids containing one or more amino substituents.		mondo.json	cellular amino acid derivative metabolism|cellular amino acid derivative metabolic process|modified amino acid metabolism|amino acid derivative metabolic process|modified amino acid metabolic process|cellular modified amino acid metabolism	http://purl.obolibrary.org/obo/GO_0006575		
GO:0006576	biolink:NamedThing	cellular biogenic amine metabolic process	The chemical reactions and pathways occurring at the level of individual cells involving any of a group of naturally occurring, biologically active amines, such as norepinephrine, histamine, and serotonin, many of which act as neurotransmitters.		mondo.json	biogenic amine metabolism	http://purl.obolibrary.org/obo/GO_0006576		
GO:0006573	biolink:NamedThing	valine metabolic process	The chemical reactions and pathways involving valine, 2-amino-3-methylbutanoic acid.		mondo.json	valine metabolism	http://purl.obolibrary.org/obo/GO_0006573		
GO:0006572	biolink:NamedThing	tyrosine catabolic process	The chemical reactions and pathways resulting in the breakdown of tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid.		mondo.json	tyrosine degradation|tyrosine breakdown|tyrosine catabolism	http://purl.obolibrary.org/obo/GO_0006572		
GO:0006570	biolink:NamedThing	tyrosine metabolic process	The chemical reactions and pathways involving tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid.		mondo.json	tyrosine metabolism	http://purl.obolibrary.org/obo/GO_0006570		
MONDO:0018099	biolink:Disease	obsolete Whipple disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018099		
MONDO:0018098	biolink:Disease	autosomal dominant limb-girdle muscular dystrophy type 1E (DES)	Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions.	UMLS:C3148763|GARD:0012529|Orphanet:34517|DOID:0110305	mondo.json	LGMD1E|limb-girdle muscular dystrophy type 1E	http://purl.obolibrary.org/obo/MONDO_0018098	UMLS:C3148763	ordo_disease
NCBITaxon:43738	biolink:OrganismalEntity	Schizophora		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_43738		
MONDO:0021650	biolink:Disease	uterine corpus neuroendocrine neoplasm	An epithelial neoplasm with neuroendocrine differentiation that arises from the uterine corpus. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma.	NCIT:C126771|UMLS:C4288048	mondo.json	body of uterus neuroendocrine tumor, well differentiated, low or intermediate grade|body of uterus neuroendocrine neoplasm|body of uterus neuroendocrine tumor|uterine corpus neuroendocrine tumor|body of uterus NET|uterine corpus neuroendocrine neoplasm|neuroendocrine neoplasm of body of uterus	http://purl.obolibrary.org/obo/MONDO_0021650	UMLS:C4288048|NCIT:C126771	
MONDO:0021651	biolink:Disease	synpolydactyly	A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits).	Orphanet:93403|SCTID:84598000|NCIT:C125597|NCIT:C75003|GARD:0005087|MESH:C538153|UMLS:C0265553|SCTID:715724002	mondo.json	synpolydactyly|SPD|syndactyly type 2|polysyndactyly	http://purl.obolibrary.org/obo/MONDO_0021651	NCIT:C75003|UMLS:C0265553|http://identifiers.org/snomedct/715724002|http://identifiers.org/snomedct/84598000|Orphanet:93403|http://identifiers.org/mesh/C538153	ordo_morphological_anomaly|gard_rare
MONDO:0033639	biolink:Disease	mitochondrial complex 4 deficiency, nuclear type 10		OMIM:619053	mondo.json	mitochondrial complex IV deficiency, nuclear type 10|MC4DN10	http://purl.obolibrary.org/obo/MONDO_0033639	https://omim.org/entry/619053	
MONDO:0006019	biolink:Disease	yaws	An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South America, and Oceania, among poor rural populations where conditions of overcrowding and poor sanitation prevail. Infection with Treponema pertenue, a subspecies of Treponema pallidum, causes the disease.	ICD10CM:A66|DOID:10371|UMLS:C0043388|ICD9:102.7|ICD9:102.9|GARD:0007913|EFO:0007548|ICD9:102|MESH:D015001|SCTID:70647001|NCIT:C41353	mondo.json	polypapilloma tropicum|Treponema pallidum subsp. pertenue disease or disorder|Treponema pertenue infection|frambesia|Treponema pallidum subsp. pertenue infectious disease|frambosie|Treponema pallidum subsp. pertenue caused disease or disorder|frambesia tropica|Bouba|endemic treponematoses|thymosis	http://purl.obolibrary.org/obo/MONDO_0006019	DOID:10371|http://identifiers.org/mesh/D015001|NCIT:C41353|http://identifiers.org/snomedct/70647001|UMLS:C0043388|http://purl.bioontology.org/ontology/ICD10CM/A66	gard_rare
MONDO:0021652	biolink:Disease	diffuse type adenocarcinoma	An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma.	ICDO:8145/3|NCIT:C4127	mondo.json	diffuse type carcinoma|diffuse type adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0021652	NCIT:C4127	
MONDO:0033638	biolink:Disease	mitochondrial complex 4 deficiency, nuclear type 8		OMIM:619052	mondo.json	mitochondrial complex IV deficiency, nuclear type 8|MC4DN8	http://purl.obolibrary.org/obo/MONDO_0033638	https://omim.org/entry/619052	
MONDO:0033637	biolink:Disease	mitochondrial complex 4 deficiency, nuclear type 7		OMIM:619051	mondo.json	mitochondrial complex IV deficiency, nuclear type 7|MC4DN7	http://purl.obolibrary.org/obo/MONDO_0033637	https://omim.org/entry/619051	
MONDO:0021653	biolink:Disease	cutaneous focal mucinosis		SCTID:110981005|UMLS:C0406659|ICD9:701.8	mondo.json	focal mucinoses|focal mucinosis	http://purl.obolibrary.org/obo/MONDO_0021653	UMLS:C0406659|http://identifiers.org/snomedct/110981005	
NCBITaxon:43735	biolink:OrganismalEntity	Tabanomorpha		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_43735		
MONDO:0033636	biolink:Disease	mitochondrial complex 4 deficiency, nuclear type 4		OMIM:619048	mondo.json	MC4DN4|mitochondrial complex IV deficiency, nuclear type 4	http://purl.obolibrary.org/obo/MONDO_0033636	https://omim.org/entry/619048	
MONDO:0021654	biolink:Disease	diffuse cutaneous mucinosis		UMLS:C0406655|ICD9:701.8|SCTID:238945000	mondo.json		http://purl.obolibrary.org/obo/MONDO_0021654	UMLS:C0406655|http://identifiers.org/snomedct/238945000	
MONDO:0006017	biolink:Disease	obsolete western equine encephalitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006017		
MONDO:0008679	biolink:Disease	Wilms tumor 1		UMLS:CN033288|UMLS:C1332219|NCIT:C6180|OMIM:194070|UMLS:C1333015|NCIT:C27730	mondo.json	Wilms' tumor|WT1|Wilms tumor, somatic|Wilms tumor 1|Wilms tumor, autosomal dominant, somatic mutation|renal Wilms tumor|Wilms tumor, type 1, autosomal dominant, somatic mutation|nephroblastoma|Wilms tumor type 1	http://purl.obolibrary.org/obo/MONDO_0008679	UMLS:CN033288|https://omim.org/entry/194070	
MONDO:0033635	biolink:Disease	mitochondrial complex 4 deficiency, nuclear type 3		OMIM:619046	mondo.json	MC4DN3|mitochondrial complex IV deficiency, nuclear type 3	http://purl.obolibrary.org/obo/MONDO_0033635	https://omim.org/entry/619046	
MONDO:0021655	biolink:Disease	secondary catabolic mucinosis of skin		UMLS:C1274173|SCTID:402723003|ICD9:701.8	mondo.json		http://purl.obolibrary.org/obo/MONDO_0021655	http://identifiers.org/snomedct/402723003|UMLS:C1274173	
MONDO:0006018	biolink:Disease	Wissler syndrome	A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate.	SCTID:68190001|UMLS:C0043195|DOID:3047|MESH:D014924|EFO:0007547	mondo.json	Wissler syndrome|Wissler-Fanconi syndrome (finding)|Wissler's subsepsis allergica|Wissler's syndrome	http://purl.obolibrary.org/obo/MONDO_0006018	UMLS:C0043195|http://identifiers.org/mesh/D014924|DOID:3047	
MONDO:0006015	biolink:Disease	Waterhouse-Friderichsen syndrome	A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency.	NCIT:C85225|SCTID:36102002|UMLS:C0043068|MedDRA:10047847|MESH:D014884|ICD10EXP:A39.1+|ICD10EXP:E35.1*|ICD9:036.3|Orphanet:100067|DOID:9931|ICD10CM:A39.1|GARD:0009449|EFO:0007544	mondo.json	meningococcal hemorrhagic adrenalitis|fatal pneumococcal Waterhouse-Friderichsen syndrome|Waterhouse–Friderichsen syndrome|WFS	http://purl.obolibrary.org/obo/MONDO_0006015	NCIT:C85225|http://purl.bioontology.org/ontology/ICD10CM/A39.1|http://identifiers.org/snomedct/36102002|Orphanet:100067|DOID:9931|UMLS:C0043068|http://identifiers.org/mesh/D014884	ordo_clinical_subtype
MONDO:0008678	biolink:Disease	Williams syndrome	Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)	MESH:D018980|SCTID:63247009|NCIT:C85232|UMLS:C0175702|GARD:0007891|ICD9:759.89|OMIM:194050|MedDRA:10049644|DECIPHER:3|Orphanet:904|DOID:1928	mondo.json	deletion 7q11.23|chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb|Williams-Beuren syndrome (WBS)|Fanconi Schlesinger syndrome|monosomy 7q11.23|WBS|Williams-Beuren syndrome|WMS|Williams syndrome	http://purl.obolibrary.org/obo/MONDO_0008678	NCIT:C85232|http://identifiers.org/mesh/D018980|DOID:1928|https://omim.org/entry/194050|http://identifiers.org/snomedct/63247009|UMLS:C0175702|Orphanet:904	ordo_malformation_syndrome
MONDO:0008677	biolink:Disease	obsolete widow's peak		OMIM:194000|HP:0000349	mondo.json	widow'S peak|widow's peak|widow's peak (disease)	http://purl.obolibrary.org/obo/MONDO_0008677	https://omim.org/entry/194000	
MONDO:0006016	biolink:Disease	obsolete West Nile encephalitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006016		
MONDO:0008676	biolink:Disease	white sponge nevus 1	Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene.	UMLS:C4011926|OMIM:193900	mondo.json	KRT4 hereditary mucosal leukokeratosis|hereditary mucosal leukokeratosis caused by mutation in KRT4|WSN1|leukokeratosis, hereditary mucosal|WHITE sponge NEVUS 1|white sponge nevus 1|White sponge Nevus type 1|White sponge Nevus of Cannon	http://purl.obolibrary.org/obo/MONDO_0008676	UMLS:C4011926|https://omim.org/entry/193900	
MONDO:0006013	biolink:Disease	visna disease	Demyelinating leukoencephalomyelitis of sheep caused by the visna-maedi virus. It is similar to but not the same as scrapie.	EFO:0007542|MESH:D016182|UMLS:C0080323	mondo.json	Visna/maedi virus disease or disorder|Visna/maedi virus infectious disease|Visna/maedi virus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0006013	UMLS:C0080323|http://identifiers.org/mesh/D016182	
MONDO:0006014	biolink:Disease	vulvovaginal candidiasis	Infection of the vulva and vagina with a fungus of the genus CANDIDA. It is a disease associated with HIV infection.	EFO:0007543|DOID:2272|ICD9:112.1|MESH:D002181|UMLS:C0700345|ICD10CM:B37.3|SCTID:72605008|NCIT:C2914	mondo.json	candidal vulvovaginitis|candidal: cervix|candidiasis of vulva and vagina|vulvovaginal candidiasis|vaginal candidiasis|monilial vulvovaginitis|candidal: [vulvovaginitis NOS] or [cervix]	http://purl.obolibrary.org/obo/MONDO_0006014	http://purl.bioontology.org/ontology/ICD10CM/B37.3|http://identifiers.org/mesh/D002181|UMLS:C0700345|http://identifiers.org/snomedct/72605008|NCIT:C2914|DOID:2272	
MONDO:0008675	biolink:Disease	Freeman-Sheldon syndrome	Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.	GARD:0006466|Orphanet:2053|UMLS:C0265224|OMIM:193700|DOID:0111604|SCTID:52616002|NCIT:C98931|MESH:C535483	mondo.json	Craniocarpotarsal dystrophy|whistling-face syndrome|distal arthrogryposis type 2A|Freeman-Sheldon syndrome|cranio-carpo-tarsal syndrome|whistling face syndrome|craniocarpotarsal dystrophy|windmill-vane-hand syndrome|arthrogryposis distal type 2A|DA2A|arthrogryposis, distal, type 2A (Freeman-Sheldon)|Craniocarpotarsal dysplasia|Freeman Sheldon syndrome|whistling face-windmill vane hand syndrome|arthrogryposis, distal, type 2A|FSS|craniocarpotarsal dysplasia	http://purl.obolibrary.org/obo/MONDO_0008675	http://identifiers.org/snomedct/52616002|NCIT:C98931|Orphanet:2053|UMLS:C0265224|https://omim.org/entry/193700|DOID:0111604|http://identifiers.org/mesh/C535483	ordo_malformation_syndrome
NCBITaxon:43733	biolink:OrganismalEntity	Muscomorpha		GC_ID:1	mondo.json	Asilomorpha	http://purl.obolibrary.org/obo/NCBITaxon_43733		
MONDO:0006011	biolink:Disease	viral hepatitis	An acute or chronic inflammation of the liver parenchyma caused by viruses. Representative examples include hepatitis A, B, and C, cytomegalovirus hepatitis, and herpes simplex hepatitis.	EFO:0004196|SCTID:3738000|ICD10CM:B15-B19|NCIT:C35124|UMLS:C0042721|MESH:D006525|DOID:1884|ICD9:573.1	mondo.json	viral human hepatitis|Viruses hepatitis|viral hepatitis with hepatic coma|viral Hepatitis|Hepatitis viral|unspecified viral hepatitis with hepatic coma|human viral hepatitis|Viruses caused hepatitis	http://purl.obolibrary.org/obo/MONDO_0006011	DOID:1884|http://purl.bioontology.org/ontology/ICD10CM/B15-B19|NCIT:C35124|http://identifiers.org/snomedct/3738000|UMLS:C0042721|http://identifiers.org/mesh/D006525	
MONDO:0008674	biolink:Disease	obsolete WHIM syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008674		
MONDO:0006012	biolink:Disease	viral pneumonia	Inflammation of the lung parenchyma that is caused by a viral infection.	EFO:0007541|UMLS:C0032310|MESH:D011024|ICD9:480.9|ICD9:480.8|ICD9:480|DOID:10533|SCTID:75570004	mondo.json	Viruses caused pneumonia|Viruses pneumonia	http://purl.obolibrary.org/obo/MONDO_0006012	http://identifiers.org/snomedct/75570004|DOID:10533|UMLS:C0032310|http://identifiers.org/mesh/D011024	
MONDO:0008673	biolink:Disease	acrofacial dysostosis, Weyers type	Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.	UMLS:C0457013|SCTID:277807007|ICD9:520.8|DOID:0111571|GARD:0000497|Orphanet:952|MESH:C536695|OMIM:193530	mondo.json	Weyers acrodental dysostosis|curry Hall syndrome|Weyers acrofacial dysostosis|wad|acrofacial dysostosis of Weyers|acrodental dysostosis of Weyers|curry-Hall syndrome	http://purl.obolibrary.org/obo/MONDO_0008673	http://identifiers.org/snomedct/277807007|https://omim.org/entry/193530|DOID:0111571|http://identifiers.org/mesh/C536695|UMLS:C0457013|Orphanet:952	ordo_malformation_syndrome
MONDO:0008672	biolink:Disease	Watson syndrome	Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual.	GARD:0005540|UMLS:CN204429|ICD9:709.8|SCTID:403820003|Orphanet:3444|OMIM:193520	mondo.json	Watson syndrome|cafe-Au-lait Spots with pulmonic stenosis|pulmonic stenosis with cafe-Au-lait Spots|WTSN	http://purl.obolibrary.org/obo/MONDO_0008672	UMLS:CN204429|Orphanet:3444|http://identifiers.org/snomedct/403820003|https://omim.org/entry/193520	gard_rare
MONDO:0008671	biolink:Disease	Waardenburg syndrome type 2A	Waardenburg syndrome Type 2 caused by mutations in the MITF gene.	NCIT:C75011|GARD:0005521|OMIM:193510|MESH:C536464|DOID:0110950	mondo.json	Waardenburg syndrome type IIA|Ws2|Waardenburg syndrome type 2 caused by mutation in MITF|Waardenburg syndrome, type 2A|MITF Waardenburg syndrome type 2|Waardenburg syndrome type 2A|Waardenburg syndrome without dystopia canthorum|WS2A	http://purl.obolibrary.org/obo/MONDO_0008671	NCIT:C75011|https://omim.org/entry/193510|http://identifiers.org/mesh/C536464|DOID:0110950	gard_rare
MONDO:0006010	biolink:Disease	salmonid viral hemorrhagic septicemia	A systemic infection of various salmonid and a few nonsalmonid fishes caused by Viral hemorrhagic septicemia virus (see novirhabdovirus),	EFO:0007539|MESH:D031941|UMLS:C1135869	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006010	UMLS:C1135869|http://identifiers.org/mesh/D031941	
MONDO:0008670	biolink:Disease	Waardenburg syndrome type 1	Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.	Orphanet:894|GARD:0005519|DOID:0110948|OMIM:193500|ICD10CM:E70.3|UMLS:C1847800|NCIT:C75008	mondo.json	WS1|Waardenburg syndrome type 1|Waardenburg's syndrome type 1|Waardenburg syndrome type I|Waardenburg syndrome, type 1|Waardenburg syndrome with dystopia canthorum	http://purl.obolibrary.org/obo/MONDO_0008670	UMLS:C1847800|NCIT:C75008|https://omim.org/entry/193500|Orphanet:894|DOID:0110948	ordo_clinical_subtype|gard_rare
UBERON:0030276	biolink:AnatomicalEntity	lumbar spinal cord ventral horn			mondo.json		http://purl.obolibrary.org/obo/UBERON_0030276		
MONDO:0018008	biolink:Disease	idiopathic giant cell myocarditis		Orphanet:329874	mondo.json	IGCM	http://purl.obolibrary.org/obo/MONDO_0018008	Orphanet:329874	ordo_disease
MONDO:0018007	biolink:Disease	mosaic genome-wide paternal uniparental disomy		UMLS:CN230278|Orphanet:329813	mondo.json	genome-wide paternal uniparental disomy mosaicism|Mosaic genome-wide paternal UPD|androgenetic/biparental mosaicism	http://purl.obolibrary.org/obo/MONDO_0018007	UMLS:CN230278|Orphanet:329813	ordo_malformation_syndrome
MONDO:0018009	biolink:Disease	non-hypoproteinemic hypertrophic gastropathy	Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema.	Orphanet:329883	mondo.json	hypertrophic gastropathy without hypoproteinemia	http://purl.obolibrary.org/obo/MONDO_0018009	Orphanet:329883	ordo_disease
MONDO:0018004	biolink:Disease	acute megakaryoblastic leukemia without down syndrome		Orphanet:329469|UMLS:CN204216	mondo.json	non-DS-AMKL	http://purl.obolibrary.org/obo/MONDO_0018004	UMLS:CN204216|Orphanet:329469	ordo_clinical_subtype
MONDO:0033645	biolink:Disease	mitochondrial complex 4 deficiency, nuclear type 11		OMIM:619054	mondo.json	mitochondrial complex IV deficiency, nuclear type 11|MC4DN11	http://purl.obolibrary.org/obo/MONDO_0033645	https://omim.org/entry/619054	
MONDO:0021645	biolink:Disease	esophageal varices with bleeding		ICD9:456.0|SCTID:17709002|ICD10WHO:I85.0|ICD10CM:I85.01	mondo.json		http://purl.obolibrary.org/obo/MONDO_0021645	https://icd.who.int/browse10/2019/en#/I85.0|http://identifiers.org/snomedct/17709002|http://purl.bioontology.org/ontology/ICD10CM/I85.01	
MONDO:0018003	biolink:Disease	limbic encephalitis with DPP6 antibodies		Orphanet:329341	mondo.json	limbic encephalitis with DPPX antibodies|limbic encephalitis with dipeptidyl-peptidase 6 antibodies	http://purl.obolibrary.org/obo/MONDO_0018003	Orphanet:329341	ordo_disease
MONDO:0033644	biolink:Disease	microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1		OMIM:619082	mondo.json	MRCS1	http://purl.obolibrary.org/obo/MONDO_0033644	https://omim.org/entry/619082	
MONDO:0018006	biolink:Disease	adult-onset distal myopathy due to VCP mutation	Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.	Orphanet:329478|UMLS:CN204218	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018006	UMLS:CN204218|Orphanet:329478	ordo_disease
MONDO:0033643	biolink:Disease	inflammatory bowel disease 30		OMIM:619079	mondo.json	IBD30|inflammatory bowel disease (Crohn disease) 30	http://purl.obolibrary.org/obo/MONDO_0033643	https://omim.org/entry/619079	
MONDO:0033642	biolink:Disease	neurodevelopmental disorder with alopecia and brain abnormalities		OMIM:619075|Orphanet:544488	mondo.json	global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome|Bachmann-Bupp syndrome|NEDABA	http://purl.obolibrary.org/obo/MONDO_0033642	Orphanet:544488|https://omim.org/entry/619075	ordo_disease
MONDO:0018005	biolink:Disease	spastic paraplegia-Paget disease of bone syndrome	Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.	Orphanet:329475|UMLS:CN204217	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018005	UMLS:CN204217|Orphanet:329475	ordo_disease
CHR:9606-chr9p13	biolink:NamedThing	9p13 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr9p13		
HGNC:18358	biolink:NamedThing	IL17RC			mondo.json		http://identifiers.org/hgnc/18358		
MONDO:0018000	biolink:Disease	hereditary thrombocytosis with transverse limb defect	Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.	UMLS:CN204208|Orphanet:329319	mondo.json	familial thrombocytosis with transverse limb defect|thrombocythemia with distal limb defects	http://purl.obolibrary.org/obo/MONDO_0018000	UMLS:CN204208|Orphanet:329319	ordo_disease
MONDO:0033641	biolink:Disease	cleft palate, proliferative retinopathy, and developmental delay		OMIM:619074	mondo.json	CPPRDD	http://purl.obolibrary.org/obo/MONDO_0033641	https://omim.org/entry/619074	
MONDO:0033640	biolink:Disease	vitamin D-dependent rickets, type 3		OMIM:619073	mondo.json	VDDR3	http://purl.obolibrary.org/obo/MONDO_0033640	https://omim.org/entry/619073	
MONDO:0018002	biolink:Disease	adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.	Orphanet:329336|SCTID:725464001|UMLS:C4511138	mondo.json	adult-onset CPEO with mitochondrial myopathy	http://purl.obolibrary.org/obo/MONDO_0018002	http://identifiers.org/snomedct/725464001|Orphanet:329336|UMLS:C4511138	ordo_disease
MONDO:0018001	biolink:Disease	inverse Klippel-Trenaunay syndrome		Orphanet:329324|UMLS:CN204209	mondo.json	inverse Klippel-Trénaunay syndrome|cutaneous hemangioma with muscle or bone atrophy	http://purl.obolibrary.org/obo/MONDO_0018001	UMLS:CN204209|Orphanet:329324	ordo_disease
NCBITaxon:1056966	biolink:OrganismalEntity	Aedini		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1056966		
HGNC:18362	biolink:NamedThing	IMPG2			mondo.json		http://identifiers.org/hgnc/18362		
OBO:pato#reciprocal_of	biolink:NamedThing	reciprocal_of	q1 reciprocal_of q2 if and only if : q1 and q2 are relational qualities and a phenotype e q1 e2 mutually implies a phenotype e2 q2 e.		mondo.json		http://purl.obolibrary.org/obo/pato#reciprocal_of		
MONDO:0021640	biolink:Disease	grade III glioma	A group of malignant gliomas that includes anaplastic astrocytoma, anaplastic oligodendroglioma, anaplastic oligoastrocytoma, and anaplastic ependymoma.	UMLS:C4287997|NCIT:C127816	mondo.json	WHO grade III glioma|anaplastic glioma	http://purl.obolibrary.org/obo/MONDO_0021640	UMLS:C4287997|NCIT:C127816	
MONDO:0021641	biolink:Disease	Bunyaviridae infectious disease	Virus diseases caused by the bunyaviridae.	SCTID:105632002|MESH:D002044|EFO:0007188	mondo.json	Bunyaviridae disease or disorder|Bunyaviridae infectious disease|disease due to Bunyaviridae|Bunyavirus infections|disease caused by Bunyaviridae|disease caused by Bunyavirus|disease due to Bunyavirus|Bunyaviridae caused disease or disorder|infections, Bunyaviridae|infections, Bunyavirus|Bunyaviridae infection|Bunyavirus infection	http://purl.obolibrary.org/obo/MONDO_0021641	http://identifiers.org/snomedct/105632002|http://identifiers.org/mesh/D002044	
MONDO:0033649	biolink:Disease	mitochondrial complex 4 deficiency, nuclear type 14		OMIM:619058	mondo.json	MC4DN14|mitochondrial complex IV deficiency, nuclear type 14	http://purl.obolibrary.org/obo/MONDO_0033649	https://omim.org/entry/619058	
MONDO:0021642	biolink:Disease	vulval varices	A varicose disease that involves the mammalian vulva.	ICD9:456.6|ICD10CM:I86.3|HP:0100677|SCTID:48868008|UMLS:C0155796	mondo.json	mammalian vulva varicose disease|varicose disease of mammalian vulva	http://purl.obolibrary.org/obo/MONDO_0021642	http://purl.bioontology.org/ontology/ICD10CM/I86.3|UMLS:C0155796|http://identifiers.org/snomedct/48868008	
MONDO:0006028	biolink:Disease	cecum adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the caecum	UMLS:C1332866|DOID:3039|SCTID:413446001|NCIT:C5543|EFO:1000020	mondo.json	cecal adenocarcinoma|adenocarcinoma of the cecum|adenocarcinoma of cecum|cecum adenocarcinoma|caecum adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006028	http://identifiers.org/snomedct/413446001|NCIT:C5543|DOID:3039|UMLS:C1332866	
MONDO:0021643	biolink:Disease	mesenteric varices	A varicose disease that involves the mesentery.	HP:0002626|SCTID:22949006	mondo.json	mesentery varicose disease|varicose disease of mesentery	http://purl.obolibrary.org/obo/MONDO_0021643	http://identifiers.org/snomedct/22949006	
PO:0030109	biolink:NamedThing	hesperidium fruit	A berry fruit (PO:0030108) which develops from a superior gynoecium (PO:0009062) and at maturity comprises a thickened exocarp (PO:0009085), thickened mesocarp (PO:0009087), and endocarp (PO:0009086), and has as parts juice sacs (PO:0006013) on a carpel adaxial epidermis (PO:0025618).	PO_GIT:652	mondo.json	indehiscent fruit  (broad)|hesperide (exact, German)|citrus fruit (exact)|hesperidio (exact, Spanish)|panzerbeere (broad, German)|hesperidium (exact)	http://purl.obolibrary.org/obo/PO_0030109		
MONDO:0006029	biolink:Disease	cecum carcinoma	A carcinoma that arises from epithelial cells of the caecum	UMLS:C0149640|NCIT:C3491|SCTID:255081007|EFO:1000021|DOID:1519	mondo.json	carcinoma of cecum|carcinoma of caecum|cecum carcinoma|carcinoma of the cecum|cecal cancer|caecum carcinoma|cecum cancer	http://purl.obolibrary.org/obo/MONDO_0006029	DOID:1519|UMLS:C0149640|NCIT:C3491|http://identifiers.org/snomedct/255081007	
MONDO:0033646	biolink:Disease	mitochondrial complex 4 deficiency, nuclear type 12		OMIM:619055	mondo.json	mitochondrial complex IV deficiency, nuclear type 12|MC4DN12	http://purl.obolibrary.org/obo/MONDO_0033646	https://omim.org/entry/619055	
PO:0030108	biolink:NamedThing	berry fruit	A fruit (PO:0009001) which at maturity comprises a fleshy endocarp (PO:0009086), fleshy mesocarp (PO:0009087), and fleshy exocarp (PO:0009085).	PO_GIT:652	mondo.json	beere (exact, German)|indehiscent fruit  (broad)|baya (exact, Spanish)|berry (exact)|pyrine (narrow)|bacca (exact)	http://purl.obolibrary.org/obo/PO_0030108		
MONDO:0021644	biolink:Disease	esophageal varices without bleeding		ICD9:456.1|SCTID:14223005|ICD10CM:I85.00|UMLS:C0267092	mondo.json	esophageal varices without bleeding	http://purl.obolibrary.org/obo/MONDO_0021644	UMLS:C0267092|http://purl.bioontology.org/ontology/ICD10CM/I85.00|http://identifiers.org/snomedct/14223005	
MONDO:0006026	biolink:Disease	urinary bladder disorder	A disease involving the urinary bladder.	ICD9:596.8|EFO:1000018|MESH:D001745|UMLS:C0005686|DOID:365|NCIT:C2900|SCTID:42643001|ICD9:596.9	mondo.json	urinary bladder disorder|disease or disorder of urinary bladder|disease of urinary bladder|urinary bladder disease or disorder|bladder disease|urinary bladder disease|disorder of urinary bladder|bladder disorder	http://purl.obolibrary.org/obo/MONDO_0006026	UMLS:C0005686|http://identifiers.org/snomedct/42643001|NCIT:C2900|http://identifiers.org/mesh/D001745|DOID:365	
MONDO:0008689	biolink:Disease	dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema		GARD:0010676|OMIM:194380	mondo.json	DHS|Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema|xerocytosis, hereditary|pseudohyperkalemia, familial, 1, due to Red cell leak|Desiccytosis, hereditary|DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema|Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema|DEHYDRATED hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema|dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema|dehydrated hereditary stomatocytosis|DHS1|pseudohyperkalemia Edinburgh	http://purl.obolibrary.org/obo/MONDO_0008689	https://omim.org/entry/194380	gard_rare
MONDO:0008688	biolink:Disease	WT limb-blood syndrome	WT limb-blood syndrome is characterised by haematological anomalies (Fanconi anaemia, leukaemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant.	UMLS:C1327917|SCTID:719019000|OMIM:194350|Orphanet:3466|GARD:0000039|MESH:C536751	mondo.json	WT limb-blood syndrome|WT limb blood syndrome|radial-ulnar hypoplasia with bone marrow failure and/or leukemia|WTsyndrome	http://purl.obolibrary.org/obo/MONDO_0008688	Orphanet:3466|http://identifiers.org/snomedct/719019000|https://omim.org/entry/194350|http://identifiers.org/mesh/C536751|UMLS:C1327917	ordo_disease|gard_rare
MONDO:0006027	biolink:Disease	breast synovial sarcoma	A synovial sarcoma (disease) that involves the breast.	EFO:1000019	mondo.json	breast synovial sarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0006027		
MONDO:0008687	biolink:Disease	Woronets trait		OMIM:194320	mondo.json	Woronets trait	http://purl.obolibrary.org/obo/MONDO_0008687	https://omim.org/entry/194320	
MONDO:0006024	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0006024		
MONDO:0006025	biolink:Disease	autosomal recessive disease	Autosomal recessive form of disease.	DOID:0050737|EFO:1000017|UMLS:C0265388|SCTID:85995004|ICD9:758.5	mondo.json	disease, autosomal recessive|recessive hereditary disorder (autosomal)|autosomal recessive disease or disorder|autosomal recessive hereditary disorder|autosomal recessive inherited disorder|autosomal recessive inherited disease|autosomal recessive hereditary disease|disease or disorder, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0006025	UMLS:C0265388|DOID:0050737|http://identifiers.org/snomedct/85995004	
MONDO:0008686	biolink:Disease	isolated familial woolly hair disorder	Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair.	DOID:0111572|Orphanet:170|UMLS:CN200245|MESH:C536745|SCTID:52564001|MedDRA:10048017|HP:0002224|GARD:0005597	mondo.json	ADWH|hereditary wooly hair syndrome|hereditary woolly hair syndrome|hereditary woolly hair (autosomal dominant)|woolly hair, autosomal dominant|woolly hair syndrome|familial wooly hair syndrome|familial woolly hair (autosomal recessive)|familial woolly hair syndrome|wooly hair|woolly hair	http://purl.obolibrary.org/obo/MONDO_0008686	http://identifiers.org/snomedct/52564001|UMLS:CN200245|Orphanet:170|DOID:0111572|http://identifiers.org/mesh/C536745	ordo_disease
MONDO:0006022	biolink:Disease	acidosis disorder	An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic.	EFO:1000014|SCTID:51387008|HP:0001941|ICD9:276.2	mondo.json	acidosis	http://purl.obolibrary.org/obo/MONDO_0006022	http://identifiers.org/snomedct/51387008	
MONDO:0008685	biolink:Disease	Wolff-Parkinson-white syndrome	A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes.	MESH:D014927|DOID:384|ICD9:426.7|HP:0001716|OMIM:194200|SCTID:17869006|EFO:1001450|NCIT:C35132|Orphanet:907	mondo.json	Wolff-Parkinson-White pattern (finding)|preexcitation syndrome|Wolff-Parkinson-white syndrome (disease)|Wolff-Parkinson-White syndrome|Wpw syndrome|anomalous A-V excitation|accessory atrioventricular pathways|anomalous atrioventricular excitation|WPW|Wolff-Parkinson-White pattern|ventricular familial preexcitation syndrome	http://purl.obolibrary.org/obo/MONDO_0008685	http://identifiers.org/snomedct/17869006|https://omim.org/entry/194200|NCIT:C35132|DOID:384|http://identifiers.org/mesh/D014927|Orphanet:907	
MONDO:0008684	biolink:Disease	Wolf-Hirschhorn syndrome	Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.	MESH:D054877|UMLS:C0796117|UMLS:C0796202|MedDRA:10050361|ICD10CM:Q93.3|DECIPHER:1|Orphanet:280|UMLS:CN207113|GARD:0007896|UMLS:C1956097|OMIM:194190|NCIT:C35528|SCTID:718226002|DOID:0050460	mondo.json	WHS|chromosome 4p16.3 deletion syndrome|Wolf-Hirschhorn syndrome|4p syndrome|4p deletion syndrome|Wittwer syndrome|distal monosomy 4p|Wolf syndrome|Pitt syndrome|Pitt-Rogers-Danks syndrome|4p- syndrome|chromosome 4p syndrome|chromosome 4P16.3 deletion syndrome|distal deletion 4p|telomeric deletion 4p|Wolf-Hirschhorn syndrome, Isolated cases|microcephaly, IUGR, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation	http://purl.obolibrary.org/obo/MONDO_0008684	UMLS:C0796117|UMLS:C0796202|https://omim.org/entry/194190|NCIT:C35528|Orphanet:280|DOID:0050460|UMLS:CN207113|http://identifiers.org/mesh/D054877|http://identifiers.org/snomedct/718226002|UMLS:C1956097	gard_rare|ordo_malformation_syndrome
MONDO:0006023	biolink:Disease	obsolete MONDO:0006023			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006023		
MONDO:0008683	biolink:Disease	Wilms tumor 3		OMIM:194090|MESH:C565991|UMLS:C1860265	mondo.json	Wilms tumor 3|Wilms tumor, type 3|WT3	http://purl.obolibrary.org/obo/MONDO_0008683	https://omim.org/entry/194090|UMLS:C1860265|http://identifiers.org/mesh/C565991	
MONDO:0006020	biolink:Disease	obsolete Zollinger-Ellison syndrome			mondo.json	obsolete Zollinger-Ellison syndrome (disease)	http://purl.obolibrary.org/obo/MONDO_0006020		
MONDO:0006021	biolink:Disease	Prinzmetal angina	A syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). For a portion of patients Prinzmetal's angina may be a manifestation of vasospastic disorder and is associated with migraine, Raynaud's phenomenon or aspirin-induced asthma.	GARD:0007465|UMLS:C2931193|UMLS:C0002963|DOID:0111151|EFO:1000013|ICD9:413.1|MESH:D000788|SCTID:87343002|Wikipedia:Prinzmetal's_angina	mondo.json	angina inversa|Prinzmetal's variant angina|variant angina|variant angina pectoris|Prinzmetal's angina	http://purl.obolibrary.org/obo/MONDO_0006021	http://identifiers.org/snomedct/87343002|UMLS:C0002963|DOID:0111151|http://identifiers.org/mesh/D000788|UMLS:C2931193	
MONDO:0008682	biolink:Disease	Denys-Drash syndrome	Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma.	SCTID:236385009|Orphanet:220|NCIT:C84668|OMIM:194080|DOID:3764|UMLS:C3151568|ICD9:189.0|UMLS:C0950121|GARD:0005576|MESH:D030321|MedDRA:10070179	mondo.json	pseudohermaphroditism, nephron disorder and Wilms' tumor|nephropathy associated with male pseudohermaphroditism and Wilms' tumor|Denys Drash syndrome|Denys-Drash syndrome, autosomal dominant, somatic mutation|nephropathy, Wilms tumor, and genital anomalies|Wilms tumor and pseudohermaphroditism|nephrotic syndrome type 4|Wilms tumor and pseudo- or true hermaphroditism|Drash syndrome|DDS|Denys-Drash syndrome	http://purl.obolibrary.org/obo/MONDO_0008682	https://omim.org/entry/194080|http://identifiers.org/mesh/D030321|Orphanet:220|UMLS:C0950121|http://identifiers.org/snomedct/236385009|UMLS:C3151568|DOID:3764|NCIT:C84668	ordo_disease
MONDO:0008681	biolink:Disease	WAGR syndrome	WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.	MESH:D017624|GARD:0005528|Orphanet:893|UMLS:C0206115|OMIM:194072|GARD:0001732|NCIT:C3718|DOID:14515|SCTID:715215007|DECIPHER:35|UMLS:C2931803	mondo.json	Del(11)(p13)|11p partial monosomy syndrome|Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability syndrome|11p deletion|WAGR syndrome|Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, autosomal dominant, somatic mutation|deletion 11p|deletion 11p13|chromosome 11P13 deletion syndrome|Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome|Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|Wilms tumor, aniridia, genitourinary anomalies, intellectual disability syndrome|WAGR|Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome|11p monosomy|monosomy 11p|Wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome|monosomy 11p13|Wilms tumor-aniridia-gonadoblastoma-intellectual disability syndrome|partial monosomy 11p|chromosome 11p deletion syndrome|Wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome|AGR triad|chromosome 11p13 deletion syndrome|Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome|chromosome 11p deletion|WAGR 11p13 deletion syndrome|WAGR Complex|11p deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0008681	NCIT:C3718|https://omim.org/entry/194072|http://identifiers.org/snomedct/715215007|UMLS:C0206115|DOID:14515|Orphanet:893|UMLS:C2931803|http://identifiers.org/mesh/D017624	ordo_malformation_syndrome|gard_rare
MONDO:0008680	biolink:Disease	Wilms tumor 2		OMIM:194071|OMIM:605982|MESH:C536853|GARD:0008559	mondo.json	Wilms tumor 2, autosomal dominant, somatic mutation|Wilms tumor 2|Wilms tumor type 2|familial Wilms tumor 2|FWT2|WT2	http://purl.obolibrary.org/obo/MONDO_0008680	https://omim.org/entry/194071|http://identifiers.org/mesh/C536853	gard_rare
GO:0043504	biolink:NamedThing	mitochondrial DNA repair	The process of restoring mitochondrial DNA after damage.		mondo.json		http://purl.obolibrary.org/obo/GO_0043504		
HGNC:1190	biolink:NamedThing	NPAP1			mondo.json		http://identifiers.org/hgnc/1190		
MONDO:0033656	biolink:Disease	mitochondrial complex 4 deficiency, nuclear type 21		OMIM:619065	mondo.json	mitochondrial complex IV deficiency, nuclear type 21|MC4DN21	http://purl.obolibrary.org/obo/MONDO_0033656	https://omim.org/entry/619065	
MONDO:0021634	biolink:Disease	epithelial skin neoplasm	A epithelial neoplasm that involves the zone of skin.	UMLS:C0345976|NCIT:C7342	mondo.json	epithelial skin neoplasm|zone of skin epithelial neoplasm|epithelial skin tumor|skin epithelium neoplasm|skin epithelium tumor	http://purl.obolibrary.org/obo/MONDO_0021634	UMLS:C0345976|NCIT:C7342	
MONDO:0021635	biolink:Disease	neurocristopathy	That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage.		mondo.json	neural crest cell development disease|disorder of neural crest cell development|disorder of neural crest development	http://purl.obolibrary.org/obo/MONDO_0021635		
MONDO:0033655	biolink:Disease	mitochondrial complex 4 deficiency, nuclear type 20		OMIM:619064	mondo.json	mitochondrial complex IV deficiency, nuclear type 20|MC4DN20	http://purl.obolibrary.org/obo/MONDO_0033655	https://omim.org/entry/619064	
MONDO:0033654	biolink:Disease	mitochondrial complex 4 deficiency, nuclear type 19		OMIM:619063	mondo.json	MC4DN19|mitochondrial complex IV deficiency, nuclear type 19	http://purl.obolibrary.org/obo/MONDO_0033654	https://omim.org/entry/619063	
MONDO:0021636	biolink:Disease	astrocytic tumor	A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.	Orphanet:94|OMIM:137800|DOID:3069|NCIT:C6958|EFO:0000272|MedDRA:10003571	mondo.json	astrocytoma of brain|astrocytoma|astrocytic neoplasm|astroglioma|astrocytoma of cerebrum|astrocytoma, no ICD-O subtype|astrocytic tumor	http://purl.obolibrary.org/obo/MONDO_0021636	DOID:3069|NCIT:C6958|Orphanet:94	ordo_group_of_disorders|disease_grouping
HGNC:18368	biolink:NamedThing	PADI4			mondo.json		http://identifiers.org/hgnc/18368		
MONDO:0021637	biolink:Disease	low grade glioma	A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma.	NCIT:C132067|UMLS:C1997217	mondo.json	low-grade glioma|low grade glioma	http://purl.obolibrary.org/obo/MONDO_0021637	NCIT:C132067|UMLS:C1997217	
MONDO:0033653	biolink:Disease	mitochondrial complex 4 deficiency, nuclear type 18		OMIM:619062	mondo.json	MC4DN18|mitochondrial complex IV deficiency, nuclear type 18	http://purl.obolibrary.org/obo/MONDO_0033653	https://omim.org/entry/619062	
HP:0025085	biolink:PhenotypicFeature	Bloody diarrhea	Passage of many stools containing blood.		mondo.json	Bloody bowel movement|Bloody stool|Bloody diarrhoea|Blood in stool|Bloody diarrhea	http://purl.obolibrary.org/obo/HP_0025085		
MONDO:0021638	biolink:Disease	low grade astrocytic tumor	A grade I or grade II astrocytic tumor. This category includes pilocytic astrocytoma (grade I), subependymal giant cell astrocytoma (grade I), and diffuse astrocytoma (grade II).	UMLS:C3898569|NCIT:C116342	mondo.json	low-grade astrocytic tumor|low grade astrocytic neoplasm|low grade astrocytic tumor|low-grade astrocytic neoplasm	http://purl.obolibrary.org/obo/MONDO_0021638	NCIT:C116342|UMLS:C3898569	
MONDO:0033652	biolink:Disease	mitochondrial complex 4 deficiency, nuclear type 17		OMIM:619061	mondo.json	MC4DN17|mitochondrial complex IV deficiency, nuclear type 17	http://purl.obolibrary.org/obo/MONDO_0033652	https://omim.org/entry/619061	
MONDO:0033651	biolink:Disease	mitochondrial complex 4 deficiency, nuclear type 16		OMIM:619060	mondo.json	MC4DN16|mitochondrial complex IV deficiency, nuclear type 16	http://purl.obolibrary.org/obo/MONDO_0033651	https://omim.org/entry/619060	
MONDO:0021639	biolink:Disease	grade II glioma	A glioma arising from the central nervous system. This category includes diffuse astrocytoma, ependymoma, oligodendroglioma, and oligoastrocytoma.	UMLS:C4330050|NCIT:C132505	mondo.json	grade II glioma|WHO grade II glioma	http://purl.obolibrary.org/obo/MONDO_0021639	NCIT:C132505|UMLS:C4330050	
MONDO:0033650	biolink:Disease	mitochondrial complex 4 deficiency, nuclear type 15		OMIM:619059	mondo.json	mitochondrial complex IV deficiency, nuclear type 15|MC4DN15	http://purl.obolibrary.org/obo/MONDO_0033650	https://omim.org/entry/619059	
HGNC:18365	biolink:NamedThing	IFNL3			mondo.json		http://identifiers.org/hgnc/18365		
MONDO:0021630	biolink:Disease	lipoma of face	A lipoma that involves the face.	SCTID:93159009|ICD9:214.0	mondo.json	face lipoma	http://purl.obolibrary.org/obo/MONDO_0021630	http://identifiers.org/snomedct/93159009	
MONDO:0021631	biolink:Disease	brain astrocytoma	A astrocytoma (excluding glioblastoma) that involves the brain.	NCIT:C60780|SCTID:254938000|UMLS:C3695127	mondo.json	brain astrocytoma|astrocytoma (excluding glioblastoma) of brain|brain astrocytoma (excluding glioblastoma)	http://purl.obolibrary.org/obo/MONDO_0021631	http://identifiers.org/snomedct/254938000|NCIT:C60780|UMLS:C3695127	
MONDO:0008659	biolink:Disease	transcobalamin I deficiency		GARD:0005239|OMIM:193090|UMLS:C0342700|MESH:C562798|SCTID:237933007|Orphanet:2967	mondo.json	transcobalamin 1 deficiency with lactoferrin deficiency|Haptocorrin deficiency|cobalamin Pseudodeficiency due to transcobalamin deficiency|cobalamin R Binder Protein deficiency|TCI deficiency|transcobalamin 1 deficiency|transcobalamin I deficiency|transcobalamin-1 deficiency|Tcn1 deficiency|R Binder deficiency with lactoferrin deficiency	http://purl.obolibrary.org/obo/MONDO_0008659	http://identifiers.org/snomedct/237933007|UMLS:C0342700|http://identifiers.org/mesh/C562798|https://omim.org/entry/193090|Orphanet:2967	ordo_disease|gard_rare
FOODON:03414466	biolink:NamedThing	tunicate	Tunicates, previously known as *Urochordata* or urochordates, are members of the *Tunicata*, a subphylum of the phylum *Chordata*. They are marine filter feeders with a saclike morphology. In their respiration and feeding they take in water through an incurrent (or inhalant) siphon and expel the filtered water through an excurrent (or exhalant) siphon. Most adult tunicates are sessile and attached to rocks or similarly suitable surfaces on the ocean floor; others such as salps, doliolids and pyrosomes swim in the pelagic zone as adults. Various species are commonly known as sea squirts or sea pork.		mondo.json		http://purl.obolibrary.org/obo/FOODON_03414466		
MONDO:0021632	biolink:Disease	primary brain neoplasm		NCIT:C4952|ONCOTREE:PBT	mondo.json	primary brain neoplasm|primary brain tumor	http://purl.obolibrary.org/obo/MONDO_0021632	NCIT:C4952	
MONDO:0033658	biolink:Disease	neurodevelopmental disorder with seizures and brain atrophy		OMIM:619072	mondo.json	NEDSEBA	http://purl.obolibrary.org/obo/MONDO_0033658	https://omim.org/entry/619072	
MONDO:0008658	biolink:Disease	virus Rd114 RNA Complementarity		OMIM:193070	mondo.json	virus Rd114 RNA Complementarity	http://purl.obolibrary.org/obo/MONDO_0008658	https://omim.org/entry/193070	
MONDO:0008657	biolink:Disease	obsolete vibratory angioedema			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008657		
MONDO:0021633	biolink:Disease	cerebral astrocytoma	An astrocytoma that arises from the cerebral hemispheres.	SCTID:99131000119108|NCIT:C4951	mondo.json	cerebral hemispheric astrocytoma|astrocytoma of cerebrum|astrocytoma of cerebral hemispheres|astrocytoma of the cerebrum|astrocytoma of the cerebral hemispheres|astrocytoma (excluding glioblastoma) of cerebral hemisphere|cerebral astrocytoma|cerebral hemisphere astrocytoma (excluding glioblastoma)	http://purl.obolibrary.org/obo/MONDO_0021633	NCIT:C4951|http://identifiers.org/snomedct/99131000119108	
MONDO:0033657	biolink:Disease	leukodystrophy, hypomyelinating, 20		OMIM:619071	mondo.json	HLD20	http://purl.obolibrary.org/obo/MONDO_0033657	https://omim.org/entry/619071	
MONDO:0008656	biolink:Disease	obsolete benign paroxysmal positional nystagmus			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008656		
UBERON:0005291	biolink:AnatomicalEntity	embryonic tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005291		
MONDO:0008655	biolink:Disease	vestibulocochlear dysfunction, progressive		MESH:C536346|GARD:0005489|OMIM:193005|UMLS:C2931176	mondo.json	vestibulocochlear dysfunction, progressive|familial progressive vestibulocochlear dysfunction	http://purl.obolibrary.org/obo/MONDO_0008655	UMLS:C2931176|https://omim.org/entry/193005|http://identifiers.org/mesh/C536346	gard_rare
UBERON:0005290	biolink:AnatomicalEntity	myelencephalon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005290		
MONDO:0008654	biolink:Disease	nystagmus 4, congenital, autosomal dominant		GARD:0009603|OMIM:193003|MESH:C537856	mondo.json	NYSTAGMUS 4, congenital, autosomal dominant|NYS4|vestibulocerebellar disorder with predominant ocular signs	http://purl.obolibrary.org/obo/MONDO_0008654	https://omim.org/entry/193003|http://identifiers.org/mesh/C537856	
MONDO:0008653	biolink:Disease	vesicoureteral reflux 1		OMIM:193000|UMLS:CN032731	mondo.json	Vesicoureteral reflux|vesicoureteral reflux 1|VUR|VUR1	http://purl.obolibrary.org/obo/MONDO_0008653	https://omim.org/entry/193000|UMLS:CN032731	
MONDO:0008652	biolink:Disease	congenital vertical talus	Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.	OMIM:192950|DOID:0111568|MESH:C536345|GARD:0005488|ICD9:755.67|Orphanet:178382|SCTID:205082007|MedDRA:10066242	mondo.json	congenital rocker-bottom foot|congenital convex pes valgus|CVT|pes valgus, congenital convex|rocker-bottom foot|rocker bottom foot|Charcot-Marie-Tooth disease, foot deformity of|vertical talus|congenital convex foot|rocker-bottom foot deformity|vertical talus, congenital	http://purl.obolibrary.org/obo/MONDO_0008652	http://identifiers.org/snomedct/205082007|Orphanet:178382|http://identifiers.org/mesh/C536345|DOID:0111568|https://omim.org/entry/192950	gard_rare|ordo_morphological_anomaly
MONDO:0008651	biolink:Disease	vertebral hypoplasia with lumbar kyphosis		UMLS:C1860463|OMIM:192900|MESH:C566002	mondo.json	vertebral hypoplasia with lumbar kyphosis	http://purl.obolibrary.org/obo/MONDO_0008651	http://identifiers.org/mesh/C566002|UMLS:C1860463|https://omim.org/entry/192900	
MONDO:0008650	biolink:Disease	posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome	Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	GARD:0002276|MESH:C536344|GARD:0005487|UMLS:C1860464|Orphanet:2064|OMIM:192800|SCTID:724064004	mondo.json	vertebral fusion, POSTERIOR lumbosacral, with blepharoptosis|congenital ptosis and posterior fusion of lumbosacral vertebrae|Faulk-Epstein-Jones syndrome|Faulk Epstein Jones syndrome|familial posterior lumbosacral vertebral fusion and eyelid ptosis|vertebral fusion posterior lumbosacral blepharoptosis	http://purl.obolibrary.org/obo/MONDO_0008650	Orphanet:2064|http://identifiers.org/snomedct/724064004|UMLS:C1860464|http://identifiers.org/mesh/C536344|https://omim.org/entry/192800	gard_rare|ordo_malformation_syndrome
UBERON:0005299	biolink:AnatomicalEntity	prepuce of clitoris			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005299		
UBERON:0005298	biolink:AnatomicalEntity	skin of clitoris			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005298		
UBERON:0005297	biolink:AnatomicalEntity	testis sex cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005297		
UBERON:0005296	biolink:AnatomicalEntity	ovary sex cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005296		
NCBITaxon:55746	biolink:OrganismalEntity	Panagrolaimoidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_55746		
UBERON:0005295	biolink:AnatomicalEntity	sex cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005295		
UBERON:0005294	biolink:AnatomicalEntity	gonadal ridge			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005294		
UBERON:0005292	biolink:AnatomicalEntity	extraembryonic tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005292		
MONDO:0031004	biolink:Disease	obsolete genetic disorder of sex development of gynecological interest		Orphanet:325665	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031004	Orphanet:325665	
MONDO:0033667	biolink:Disease	Delpire-McNeill syndrome		OMIM:619083	mondo.json	DELMNES	http://purl.obolibrary.org/obo/MONDO_0033667	https://omim.org/entry/619083	
HGNC:18337	biolink:NamedThing	PADI3			mondo.json		http://identifiers.org/hgnc/18337		
MONDO:0033665	biolink:Disease	hearing loss, autosomal dominant 78		OMIM:619081	mondo.json	deafness, autosomal dominant 78|DFNA78	http://purl.obolibrary.org/obo/MONDO_0033665	https://omim.org/entry/619081	
MONDO:0031002	biolink:Disease	Baralle-Macken syndrome		OMIM:619255	mondo.json	BARMACS|neurodevelopmental disorder with cataracts and variable microcephaly	http://purl.obolibrary.org/obo/MONDO_0031002	https://omim.org/entry/619255	
MONDO:0031003	biolink:Disease	hypercholanemia, familial, 2		OMIM:619256	mondo.json	NTCP Deficiency|FHCA2|hypercholanemia, familial 2	http://purl.obolibrary.org/obo/MONDO_0031003	https://omim.org/entry/619256	
MONDO:0033664	biolink:Disease	Kilquist syndrome	An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis.	OMIM:619080	mondo.json	KILQS	http://purl.obolibrary.org/obo/MONDO_0033664	https://omim.org/entry/619080	
MONDO:0021627	biolink:Disease	eyelid capillary hemangioma	A capillary hemangioma arising from the eyelid.	SCTID:231828003|NCIT:C4357|UMLS:C0339110	mondo.json	capillary angioma of the eyelid|capillary hemangioma of eyelid|capillary hemangioma of the eyelid|capillary hemangioma of the lid|capillary hemangioma of lid|eyelid capillary angioma|capillary angioma of the lid|capillary angioma of lid|capillary angioma of eyelid|eyelid capillary hemangioma	http://purl.obolibrary.org/obo/MONDO_0021627	http://identifiers.org/snomedct/231828003|NCIT:C4357|UMLS:C0339110	
MONDO:0031001	biolink:Disease	vitreoretinopathy with phalangeal epiphyseal dysplasia		OMIM:619248	mondo.json	VPED	http://purl.obolibrary.org/obo/MONDO_0031001	https://omim.org/entry/619248	
MONDO:0021628	biolink:Disease	obsolete lacrimal system disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021628		
MONDO:0033662	biolink:Disease	neurodevelopmental disorder with microcephaly, seizures, and brain atrophy		OMIM:619076	mondo.json	NEDMISB	http://purl.obolibrary.org/obo/MONDO_0033662	https://omim.org/entry/619076	
MONDO:0021629	biolink:Disease	uterine ligament neoplasm	A benign, borderline, or malignant neoplasm that affects the uterine ligaments. Representative examples include Wolffian adnexal tumor, papillary cystadenoma, and adenocarcinoma.	UMLS:C1519870|NCIT:C40133	mondo.json	uterine ligament neoplasm|tumor of uterine ligament|neoplasm of the uterine ligament|neoplasm of uterine ligament|uterine ligament tumor|uterine ligament neoplasm (disease)|tumor of the uterine ligament	http://purl.obolibrary.org/obo/MONDO_0021629	UMLS:C1519870|NCIT:C40133	
HGNC:18340	biolink:NamedThing	WDR19			mondo.json		http://identifiers.org/hgnc/18340		
MONDO:0031008	biolink:Disease	nephrotic syndrome, type 24		OMIM:619263|Orphanet:567548	mondo.json	NPHS24|idiopathic SRNS|idiopathic steroid-resistant nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0031008	Orphanet:567548|https://omim.org/entry/619263	ordo_disorder
MONDO:0006008	biolink:Disease	vestibular neuronitis	Idiopathic inflammation of the vestibular nerve, characterized clinically by the acute or subacute onset of vertigo; nausea; and imbalance. The cochlear nerve is typically spared and hearing loss and tinnitus do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304)	SCTID:186738001|ICD9:078.81|UMLS:C0751908|MESH:D020338|DOID:12683|ICD9:386.12|ICD10CM:H81.2|EFO:0007537	mondo.json	vestibular neuritis|epidemic neurolabyrinthitis	http://purl.obolibrary.org/obo/MONDO_0006008	UMLS:C0751908|DOID:12683|http://identifiers.org/snomedct/186738001|http://identifiers.org/mesh/D020338|http://purl.bioontology.org/ontology/ICD10CM/H81.2	
MONDO:0006009	biolink:Disease	viral encephalitis	Encephalitis resulting from viral infection.	SCTID:34476008|MedDRA:10058805|Orphanet:98252|UMLS:C0243010|DOID:646|NCIT:C35302|EFO:0007538	mondo.json	Viruses encephalitis|Viruses caused encephalitis|viral encephalitis	http://purl.obolibrary.org/obo/MONDO_0006009	http://identifiers.org/snomedct/34476008|UMLS:C0243010|NCIT:C35302|Orphanet:98252|DOID:646	
MONDO:0031009	biolink:Disease	Glanzmann thrombasthenia 2		OMIM:619267	mondo.json	Glanzmann thrombasthenia 2|bleeding disorder, platelet-type, 23|GT2	http://purl.obolibrary.org/obo/MONDO_0031009	https://omim.org/entry/619267	
MONDO:0006006	biolink:Disease	verrucous carcinoma	A well differentiated squamous cell carcinoma characterized by a papillary growth pattern, acanthosis, mild cytologic atypia, and pushing tumor margins. The most commonly affected anatomic sites are the oral cavity, nasal cavity, larynx, esophagus, anus, vagina, vulva, and the plantar region of the foot.	EFO:0007535|SCTID:403904009|UMLS:C0206706|MESH:D018289|DOID:3737|ICDO:8051/3|NCIT:C3781|ICD9:199.1	mondo.json	verrucous epidermoid cell carcinoma|verrucous carcinoma|verrucous epidermoid carcinoma|verrucous carcinoma NOS (morphologic abnormality)|verrucous squamous carcinoma|verrucous squamous cell carcinoma|warty carcinoma	http://purl.obolibrary.org/obo/MONDO_0006006	UMLS:C0206706|http://identifiers.org/snomedct/403904009|http://identifiers.org/mesh/D018289|DOID:3737|NCIT:C3781	
MONDO:0008669	biolink:Disease	vulvovaginitis, allergic seminal		UMLS:C1860357|OMIM:193450|MESH:C565993	mondo.json	vulvovaginitis, allergic seminal	http://purl.obolibrary.org/obo/MONDO_0008669	http://identifiers.org/mesh/C565993|https://omim.org/entry/193450|UMLS:C1860357	
MONDO:0031006	biolink:Disease	neurodegeneration with ataxia and late-onset optic atrophy		OMIM:619259	mondo.json	NDAXOA	http://purl.obolibrary.org/obo/MONDO_0031006	https://omim.org/entry/619259	
MONDO:0033669	biolink:Disease	Noonan syndrome 13		OMIM:619087	mondo.json	NS13	http://purl.obolibrary.org/obo/MONDO_0033669	https://omim.org/entry/619087	
MONDO:0031007	biolink:Disease	spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis		OMIM:619260|Orphanet:611207	mondo.json	spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis|SHILCA syndrome|SHILCA	http://purl.obolibrary.org/obo/MONDO_0031007	Orphanet:611207|https://omim.org/entry/619260	ordo_disorder
MONDO:0008668	biolink:Disease	von Willebrand disease 1	Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).	DOID:0060573|OMIM:193400|Orphanet:166078|MESH:D056725|UMLS:C1264039|NCIT:C131685|SCTID:128106003	mondo.json	von Willebrand disease 1|von Willebrand's disease type 1|von willebrand's disease 1|VWD type 1|von Willebrand disease type I|Von Willebrand disease, type 1|VON WILLEBRAND disease, type 1|VWD1|von Willebrand disease type 1|VWD, type 1	http://purl.obolibrary.org/obo/MONDO_0008668	NCIT:C131685|DOID:0060573|Orphanet:166078|http://identifiers.org/mesh/D056725|https://omim.org/entry/193400|http://identifiers.org/snomedct/128106003|UMLS:C1264039	ordo_clinical_subtype
MONDO:0033668	biolink:Disease	hearing loss, autosomal dominant 79		OMIM:619086	mondo.json	DFNA79|deafness, autosomal dominant 79	http://purl.obolibrary.org/obo/MONDO_0033668	https://omim.org/entry/619086	
MONDO:0006007	biolink:Disease	vesicoureteral reflux	Abnormal flow of urine from the urinary bladder back into the ureters.	DOID:9620|SCTID:197811007|MESH:D014718|HP:0000076|ICD9:593.7|EFO:0007536|Orphanet:289365|UMLS:C0042580	mondo.json	vesicoureteral reflux|vesico-ureteral reflux|vesicoureteral reflux (disease)	http://purl.obolibrary.org/obo/MONDO_0006007	http://identifiers.org/snomedct/197811007|DOID:9620|http://identifiers.org/mesh/D014718|UMLS:C0042580	
UBERON:0017261	biolink:AnatomicalEntity	intertarsal sesamoid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0017261		
MONDO:0006004	biolink:Disease	vasomotor rhinitis	Inflammation in the nasal cavity mucosa that results from the abnormal regulation of the blood flow in the nose. It may be caused by temperature fluctuations, air pollution, strong odors, and tobacco smoke. It results in chronic nasal congestion, sneezing, and running nose.	NCIT:C34988|EFO:0007533|MESH:D012223|SCTID:8229003|UMLS:C0035460|ICD10CM:J30.0|DOID:4730	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006004	UMLS:C0035460|http://purl.bioontology.org/ontology/ICD10CM/J30.0|http://identifiers.org/snomedct/8229003|http://identifiers.org/mesh/D012223|NCIT:C34988|DOID:4730	
MONDO:0008667	biolink:Disease	von Hippel-Lindau disease	A familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.	SCTID:46659004|MESH:D006623|Orphanet:892|MedDRA:10047716|UMLS:C0019562|DOID:14175|OMIM:193300|GARD:0007855|ICD9:759.6|NCIT:C3105	mondo.json	Hippel Lindau syndrome|Von Hippel-Lindau syndrome, Modifiers of|Von Hippel Lindau disease|von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome|familial cerebelloretinal angiomatosis|Lindau disease|VHL|von Hippel-Lindau syndrome, modifier of|VHL syndrome|Von Hippel-Lindau syndrome (VHL)|von Hippel-Lindau disease|cerebroretinal angiomatosis	http://purl.obolibrary.org/obo/MONDO_0008667	UMLS:C0019562|http://identifiers.org/mesh/D006623|http://identifiers.org/snomedct/46659004|NCIT:C3105|https://omim.org/entry/193300|DOID:14175|Orphanet:892	ordo_disease|clingen|gard_rare
MONDO:0006005	biolink:Disease	Venezuelan equine encephalitis	A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting.	MESH:D004685|EFO:0007534|ICD10CM:A92.2|NCIT:C35121|GARD:0006355|SCTID:417067005|DOID:9584|ICD9:066.2|UMLS:C0014078	mondo.json	Venezuelan equine encephalitis virus infectious disease|Venezuelan equine encephalitis virus disease or disorder|Venezuelan equine encephalitis virus caused disease or disorder|Venezuelan equine fever	http://purl.obolibrary.org/obo/MONDO_0006005	http://purl.bioontology.org/ontology/ICD10CM/A92.2|DOID:9584|http://identifiers.org/mesh/D004685|http://identifiers.org/snomedct/417067005|NCIT:C35121|UMLS:C0014078	gard_rare
MONDO:0008666	biolink:Disease	volvulus of midgut	A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction.	SCTID:458422009|NCIT:C98961|OMIM:193250|MESH:C562456	mondo.json	congenital malrotation of intestine|volvulus of midgut|intestinal malrotation|intestinal malrotation, familial	http://purl.obolibrary.org/obo/MONDO_0008666	http://identifiers.org/mesh/C562456|NCIT:C98961|http://identifiers.org/snomedct/458422009|https://omim.org/entry/193250	
MONDO:0008665	biolink:Disease	ptosis-vocal cord paralysis syndrome	Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.	UMLS:C1860403|Orphanet:2997|OMIM:193240|GARD:0000427|MESH:C536923	mondo.json	congenital bilateral recurrent nerve paralysis and ptosis|ptosis vocal cord paralysis|tucker syndrome|vocal cord paralysis and ptosis	http://purl.obolibrary.org/obo/MONDO_0008665	https://omim.org/entry/193240|Orphanet:2997|UMLS:C1860403|http://identifiers.org/mesh/C536923	ordo_malformation_syndrome
MONDO:0006002	biolink:Disease	urogenital tuberculosis	A general term for mycobacterium infections of any part of the urogenital system in either the male or the female.	EFO:0007531|ICD9:016|ICD9:016.92|DOID:2149|MESH:D014401|UMLS:C0041333|ICD9:016.9|SCTID:4445009|ICD9:016.90	mondo.json	genitourinary system tuberculosis|genitourinary tuberculosis	http://purl.obolibrary.org/obo/MONDO_0006002	http://identifiers.org/snomedct/4445009|http://identifiers.org/mesh/D014401|UMLS:C0041333|DOID:2149	
MONDO:0008664	biolink:Disease	obsolete autosomal dominant neovascular inflammatory vitreoretinopathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008664		
MONDO:0006003	biolink:Disease	uterine corpus cancer	A malignant neoplasm involving the body of uterus.	EFO:0007532|ICD9:182|NCIT:C61574|SCTID:371972005|DOID:9460	mondo.json	malignant body of uterus neoplasm|cancer of body of uterus|endometrial cancer|corpus uteri cancer|cancer of the corpus uteri|uterine corpus cancer|body of uterus cancer|malignant neoplasm of body of uterus|uterine (including endometrial) cancer	http://purl.obolibrary.org/obo/MONDO_0006003	NCIT:C61574|DOID:9460|http://identifiers.org/snomedct/371972005	
MONDO:0006000	biolink:Disease	tuberculous peritonitis	A form of peritonitis seen in patients with tuberculosis, characterized by lesion either as a miliary form or as a pelvic mass on the peritoneal surfaces. Most patients have ascites, abdominal swelling, abdominal pain, and other systemic symptoms such as fever; weight loss; and anemia.	ICD10CM:A18.31|ICD9:014.00|MESH:D014395|ICD9:014.0|DOID:9801|EFO:0007529|UMLS:C0041325|SCTID:44572005|ICD9:014.01	mondo.json	Mycobacterium tuberculosis peritonitis|Mycobacterium tuberculosis caused peritonitis	http://purl.obolibrary.org/obo/MONDO_0006000	DOID:9801|http://identifiers.org/mesh/D014395|http://purl.bioontology.org/ontology/ICD10CM/A18.31|UMLS:C0041325|http://identifiers.org/snomedct/44572005	
MONDO:0008663	biolink:Disease	snowflake vitreoretinal degeneration	Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.	UMLS:C1860405|OMIM:193230|Orphanet:91496|DOID:0111570|GARD:0009706|MESH:C536677|ICD10CM:H35.5	mondo.json	snowflake vitreoretinal degeneration|vitreoretinal degeneration, snowflake type|snowflake degeneration in hereditary vitreoretinal degeneration|SVD	http://purl.obolibrary.org/obo/MONDO_0008663	Orphanet:91496|https://omim.org/entry/193230|UMLS:C1860405|http://identifiers.org/mesh/C536677|DOID:0111570	ordo_disease|gard_rare
MONDO:0008662	biolink:Disease	autosomal dominant vitreoretinochoroidopathy	Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.	MESH:C536352|OMIM:193220|ICD10CM:H35.5|GARD:0005507|UMLS:C3888099|SCTID:711162004|DOID:0111569|Orphanet:3086	mondo.json	vitreoretinochoroidopathy, autosomal dominant|vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos|microcornea, Rod-cone dystrophy, cataract, and posterior staphyloma|VRCP|vitreoretinochoroidopathy dominant|vitreoretinochoroidopathy with microcornea, glaucoma, and cataract|ADVIRC|microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2|VRCP autosomal dominant|vitreoretinochoroidopathy	http://purl.obolibrary.org/obo/MONDO_0008662	Orphanet:3086|UMLS:C3888099|https://omim.org/entry/193220|http://identifiers.org/mesh/C536352|http://identifiers.org/snomedct/711162004|DOID:0111569	ordo_disease
MONDO:0006001	biolink:Disease	urinary schistosomiasis	A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time.	DOID:1394|EFO:0007530|UMLS:C1704430|NCIT:C39294|MESH:D012553|ICD9:120.0|UMLS:C0276926|SCTID:236706006	mondo.json	schistosomiasis of bladder|vesical schistosomiasis|schistosomiasis due to Schistosoma haematobium|Schistosoma haematobium (& vesical schistosomiasis)|Schistosoma haematobium|urinary schistosomiasis|Schistosoma hematobium infectious disease|Schistosoma haematobium infection|cystitis with bilharziasis|Schistosoma hematobium infection|urinary bladder schistosomiasis|bladder schistosomiasis	http://purl.obolibrary.org/obo/MONDO_0006001	UMLS:C1704430|UMLS:C0276926|DOID:1394|NCIT:C39294|http://identifiers.org/snomedct/236706006|http://identifiers.org/mesh/D012553	
MONDO:0008661	biolink:Disease	vitiligo	Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes.	Orphanet:247871|DOID:12306|EFO:0004208|NCIT:C26915|ICD9:709.01|MESH:D014820|UMLS:C0042900|ICD10CM:L80	mondo.json		http://purl.obolibrary.org/obo/MONDO_0008661	NCIT:C26915|http://identifiers.org/mesh/D014820|UMLS:C0042900|http://purl.bioontology.org/ontology/ICD10CM/L80|DOID:12306	
MONDO:0008660	biolink:Disease	autosomal dominant hypophosphatemic rickets	Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.	DOID:0050948|Orphanet:89937|OMIM:193100|UMLS:C0342642|MESH:C562791|SCTID:237889002|ICD10CM:E83.3	mondo.json	autosomal dominant hereditary hypophosphatemic rickets|ADHR|hereditary hypophosphatemic rickets, autosomal dominant|vitamin D-resistant rickets, autosomal dominant|autosomal dominant hypophosphatemia|hypophosphatemia, autosomal dominant|autosomal dominant hypophosphatemic rickets|hypophosphatemic rickets, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008660	http://identifiers.org/mesh/C562791|http://identifiers.org/snomedct/237889002|Orphanet:89937|https://omim.org/entry/193100|UMLS:C0342642|DOID:0050948	ordo_disease
UBERON:0005288	biolink:AnatomicalEntity	tela choroidea of third ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005288		
MONDO:0033670	biolink:Disease	hearing loss, autosomal recessive 116		OMIM:619093	mondo.json	deafness, autosomal recessive 116|DFNB116	http://purl.obolibrary.org/obo/MONDO_0033670	https://omim.org/entry/619093	
UBERON:0005287	biolink:AnatomicalEntity	tela choroidea of fourth ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005287		
UBERON:0005283	biolink:AnatomicalEntity	tela choroidea			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005283		
UBERON:0005282	biolink:AnatomicalEntity	ventricular system of brain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005282		
UBERON:0005281	biolink:AnatomicalEntity	ventricular system of central nervous system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005281		
HGNC:18348	biolink:NamedThing	TICAM1			mondo.json		http://identifiers.org/hgnc/18348		
MONDO:0031016	biolink:Disease	obsolete genetic disorder of sex development		Orphanet:325690	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031016	Orphanet:325690	
MONDO:0031013	biolink:Disease	autoimmune optic neuritis	An autoimmune form of optic neuritis.	DOID:0040089	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031013	DOID:0040089	
MONDO:0031014	biolink:Disease	autoimmune gastritis	Inflammation of the body fundic mucosa of the stomach. It results from the development of autoantibodies against the parietal and chief cells. It is associated with the presence of intestinal metaplasia and an increased risk of developing gastric carcinoma.	NCIT:C95752|DOID:0040090	mondo.json	autoimmune gastritis (disease)	http://purl.obolibrary.org/obo/MONDO_0031014	DOID:0040090|NCIT:C95752	
MONDO:0031011	biolink:Disease	neurodevelopmental disorder with dysmorphic facies and variable seizures		OMIM:619264	mondo.json	NEDDFAS	http://purl.obolibrary.org/obo/MONDO_0031011	https://omim.org/entry/619264	
MONDO:0031012	biolink:Disease	autoimmune uveitis	An autoimmune form of uveitis (disease).	DOID:0040088	mondo.json	autoimmune uveitis (disease)	http://purl.obolibrary.org/obo/MONDO_0031012	DOID:0040088	
MONDO:0033673	biolink:Disease	spermatogenic failure 46		OMIM:619095	mondo.json	SPGF46	http://purl.obolibrary.org/obo/MONDO_0033673	https://omim.org/entry/619095	
MONDO:0033672	biolink:Disease	Duane anomaly-myopathy-scoliosis syndrome	Duane anomaly-myopathy-scoliosis syndrome is characterised by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap.	Orphanet:50817	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033672	Orphanet:50817	ordo_disease
MONDO:0031010	biolink:Disease	odontochondrodysplasia 2 with hearing loss and diabetes		OMIM:619269	mondo.json	ODCD2|ondontochondrodysplasia 2 with hearing loss and diabetes	http://purl.obolibrary.org/obo/MONDO_0031010	https://omim.org/entry/619269	
MONDO:0033671	biolink:Disease	spermatogenic failure 45		OMIM:619094	mondo.json	SPGF45	http://purl.obolibrary.org/obo/MONDO_0033671	https://omim.org/entry/619094	
UBERON:0005289	biolink:AnatomicalEntity	tela choroidea of telencephalic ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005289		
MONDO:0018040	biolink:Disease	obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells		Orphanet:331240	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018040	Orphanet:331240	
MONDO:0018042	biolink:Disease	obsolete immunodeficiency syndrome with abnormal pigmentation		UMLS:CN204283|Orphanet:331249	mondo.json	immunodeficiency syndrome with hypopigmentation	http://purl.obolibrary.org/obo/MONDO_0018042	Orphanet:331249|UMLS:CN204283	ordo_group_of_disorders
MONDO:0018041	biolink:Disease	obsolete other immunodeficiency syndrome with predominantly antibody defects		Orphanet:331244|UMLS:CN204282	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018041	Orphanet:331244|UMLS:CN204282	disease_grouping|obsoletion_candidate|ordo_group_of_disorders
MONDO:0021697	biolink:Disease	chlamydia infectious disease	Infections with bacteria of the genus CHLAMYDIA.	MESH:D023521|MESH:D002690|ICD10CM:A70-A74|EFO:1000863	mondo.json	infections, Chlamydia|infection, Chlamydia|Chlamydia infection|chlamydia infectious disease|Chlamydophila caused disease or disorder|Chlamydia infectious disease|Chlamydia disease or disorder|Chlamydia caused disease or disorder|Chlamydophila disease or disorder	http://purl.obolibrary.org/obo/MONDO_0021697	http://identifiers.org/mesh/D023521|http://purl.bioontology.org/ontology/ICD10CM/A70-A74|http://identifiers.org/mesh/D002690	
MONDO:0021698	biolink:Disease	alcohol-related disorders	Disorders related to or resulting from abuse or mis-use of alcohol.	MESH:D019973|SCTID:29212009	mondo.json	disorders, alcohol-related|alcohol-related disorder|alcohol related disorders|disorder, alcohol-related	http://purl.obolibrary.org/obo/MONDO_0021698	http://identifiers.org/mesh/D019973|http://identifiers.org/snomedct/29212009	
MONDO:0021699	biolink:Disease	alcohol-induced disorders	Disorders stemming from the misuse and abuse of alcohol.	SCTID:719848005|MESH:D020751|UMLS:C0236970	mondo.json	alcohol induced disorders|alcohol-induced disorder	http://purl.obolibrary.org/obo/MONDO_0021699	UMLS:C0236970|http://identifiers.org/mesh/D020751|http://identifiers.org/snomedct/719848005	
MONDO:0006059	biolink:Disease	nasal cavity squamous cell carcinoma	A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass.	UMLS:C0280333|EFO:1000057|NCIT:C8192|DOID:5515	mondo.json	squamous cell carcinoma of nasal cavity|squamous cell carcinoma of the nasal cavity|nasal cavity squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006059	NCIT:C8192|DOID:5515|UMLS:C0280333	
MONDO:0006057	biolink:Disease	obsolete thymic lymphoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006057		
MONDO:0006058	biolink:Disease	Wilms tumor	An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix.	UMLS:CN244940|EFO:1000056|GARD:0007892|NCIT:C3267	mondo.json	Wilms' tumor|Wilms tumor|Wilms tumor (nephroblastoma)	http://purl.obolibrary.org/obo/MONDO_0006058	UMLS:CN244940|NCIT:C3267	
MONDO:0006055	biolink:Disease	sex cord-stromal tumor	A neoplasm involving a sex cord.	UMLS:C0206724|UMLS:C1515289|EFO:1000052|DOID:192|EFO:0007483|NCIT:C3794|ICDO:8590/1	mondo.json	tumor of sex cord|sex cord-gonadal stromal tumor|sex cord neoplasm|Sex cord-stromal tumor, no ICD-O subtype (morphologic abnormality)|specialized gonadal tumor (qualifier value)|specialized gonadal neoplasm NOS (morphologic abnormality)|Sex cord-stromal neoplasm|malignant testicular sex cord-stromal tumor|Sex cord-stromal tumor, no ICD-O subtype|sex cord-stromal tumor|neoplasm of sex cord|sex cord tumor|specialized gonadal neoplasm (morphologic abnormality)|Sex cord stromal tumour|specialized gonadal tumor|Sex cord-stromal tumor|specialized gonadal neoplasm	http://purl.obolibrary.org/obo/MONDO_0006055	NCIT:C3794|DOID:192|UMLS:C0206724|UMLS:C1515289	
MONDO:0006056	biolink:Disease	squamous cell breast carcinoma	A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells.	DOID:5514|ONCOTREE:MSCC|UMLS:C1336079|EFO:1000053|NCIT:C5177	mondo.json	squamous cell breast carcinoma|breast primary squamous cell carcinoma|primary squamous cell breast carcinoma|squamous breast carcinoma|primary squamous cell carcinoma of the breast|squamous carcinoma of breast|primary squamous cell carcinoma of breast|squamous carcinoma of the breast|squamous cell carcinoma of breast|squamous cell carcinoma of the breast|breast squamous cell carcinoma|metaplastic squamous cell carcinoma|scc of breast|scc of the breast	http://purl.obolibrary.org/obo/MONDO_0006056	DOID:5514|UMLS:C1336079|NCIT:C5177	
MONDO:0006053	biolink:Disease	renal leiomyoma	A leiomyoma that involves the kidney.	EFO:1000050	mondo.json	kidney leiomyoma|leiomyoma of kidney	http://purl.obolibrary.org/obo/MONDO_0006053		
MONDO:0021690	biolink:Disease	obsolete congenital left ventricular aneurysm	OBSOLETE. A rare congenital non-syndromic heart malformation characterized by a bulging of the left ventricular wall, connected to the left ventricle by a wide neck (with a ratio of the connection to the body of the anomaly >1). The dimensions of described aneurysms range from 0.5 cm in diameter up to a size of 8x9 cm. Most frequent locations are the left ventricular apex and the perivalvular area. Aneurysms can be a- or dyskinetic or show almost normal contractility. Patients may remain asymptomatic or present with systemic embolization, congestive heart failure, valvular regurgitation, ventricular wall rupture, ventricular tachycardia, or sudden cardiac death. [Orphanet:1055]	ICD10CM:Q24.8|Orphanet:1055	mondo.json		http://purl.obolibrary.org/obo/MONDO_0021690	Orphanet:1055	
MONDO:0006054	biolink:Disease	reproductive system neoplasm	A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system.	NCIT:C3674|UMLS:C0178830|EFO:1000051	mondo.json	reproductive system neoplasm (disease)|tumor of reproductive system|neoplasm of the reproductive system|reproductive system neoplasm|tumor of the reproductive system|neoplasm of reproductive system|reproductive system tumor|reproductive tumor|reproductive neoplasm	http://purl.obolibrary.org/obo/MONDO_0006054	UMLS:C0178830|NCIT:C3674	
GO:0043539	biolink:NamedThing	protein serine/threonine kinase activator activity	Binds to and increases the activity of a protein serine/threonine kinase.		mondo.json	protein ser/thr kinase activator activity	http://purl.obolibrary.org/obo/GO_0043539		
MONDO:0006051	biolink:Disease	postweaning multisystemic wasting syndrome	Pig disease caused by porcine circovirus type 2 (PCV2). Most representative symptoms include wasting, unthriftness, paleness of the skin, respiratory distress, diarrhea and sometimes icterus.	EFO:1000048	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006051		obsoletion_candidate
MONDO:0006052	biolink:Disease	pulmonary tuberculosis	A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss.	MESH:D014397|DOID:2957|ICD9:011.86|ICD9:011.90|ICD9:011.85|ICD9:011.96|ICD9:011.84|SCTID:154283005|ICD9:011|UMLS:C0041327|NCIT:C26899|ICD9:011.92|ICD9:011.81|ICD9:011.80|ICD9:011.9|EFO:1000049|ICD9:011.16	mondo.json	lung TB|pulmonary TB|lung tuberculosis	http://purl.obolibrary.org/obo/MONDO_0006052	UMLS:C0041327|DOID:2957|NCIT:C26899|http://identifiers.org/snomedct/154283005|http://identifiers.org/mesh/D014397	
MONDO:0006050	biolink:Disease	pleomorphic breast carcinoma	A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate.	NCIT:C5161|EFO:1000047|UMLS:C1514169|UMLS:C2211689	mondo.json	anaplastic breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0006050	UMLS:C2211689|NCIT:C5161|UMLS:C1514169	
HGNC:18318	biolink:NamedThing	ASXL1			mondo.json		http://identifiers.org/hgnc/18318		
MONDO:0018048	biolink:Disease	heparin-induced thrombocytopenia	Heparin-induced thrombocytopenia (HIT) is a drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis.	UMLS:C0272285|ICD9:289.84|Orphanet:3325|HP:0011874|MedDRA:10062506|GARD:0002650|SCTID:73397007	mondo.json	HIT|HAT|heparin-associated thrombocytopenia|heparin-induced thrombocytopenia type 2|heparin-induced thrombocytopenia|heparin-induced thrombocytopenia (disease)	http://purl.obolibrary.org/obo/MONDO_0018048	http://identifiers.org/snomedct/73397007|UMLS:C0272285|Orphanet:3325	ordo_disease
MONDO:0018047	biolink:Disease	familial thrombomodulin anomalies		GARD:0005195|MESH:C536900|UMLS:C2931365|Orphanet:3324|HGNC:11784	mondo.json	thrombomodulin anomalies, familial	http://purl.obolibrary.org/obo/MONDO_0018047	http://identifiers.org/mesh/C536900|UMLS:C2931365|Orphanet:3324	ordo_disease|gard_rare
MONDO:0018049	biolink:Disease	obsolete Kaposi sarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018049		
HGNC:21957	biolink:NamedThing	KCTD7			mondo.json		http://identifiers.org/hgnc/21957		
MONDO:0018044	biolink:Disease	idiopathic hypersomnia	Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time.	Orphanet:33208|UMLS:C0751757|NCIT:C116343|GARD:0008737|SCTID:3731000119107|MESH:D020177	mondo.json	primary hypersomnia|idiopathic hypersomnolence	http://purl.obolibrary.org/obo/MONDO_0018044	NCIT:C116343|http://identifiers.org/snomedct/3731000119107|UMLS:C0751757|http://identifiers.org/mesh/D020177|Orphanet:33208	ordo_disease|gard_rare
MONDO:0018043	biolink:Disease	Thomas syndrome	Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.	UMLS:C2931225|Orphanet:3316|SCTID:716740009|GARD:0005175|MESH:C536514	mondo.json	Potter sequence-cleft lip/palate-cardiopathy syndrome	http://purl.obolibrary.org/obo/MONDO_0018043	http://identifiers.org/mesh/C536514|http://identifiers.org/snomedct/716740009|UMLS:C2931225|Orphanet:3316	ordo_malformation_syndrome
MONDO:0018046	biolink:Disease	thrombocytopenia-robin sequence syndrome		MESH:C536898|UMLS:C2931364|GARD:0005193|Orphanet:3323	mondo.json	Braddock-Carey syndrome|congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay|Braddock Carey syndrome|thrombocytopenia Robin sequence	http://purl.obolibrary.org/obo/MONDO_0018046	http://identifiers.org/mesh/C536898|UMLS:C2931364|Orphanet:3323	ordo_malformation_syndrome
MONDO:0018045	biolink:Disease	Hoyeraal-Hreidarsson syndrome	Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.	OMIM:616353|GARD:0000346|OMIM:613989|Orphanet:3322|OMIM:615190|MESH:C536068|UMLS:C1846142|SCTID:707276009|OMIM:613990|OMIM:616553	mondo.json	Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia|progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|Hoyeraal Hreidarsson syndrome	http://purl.obolibrary.org/obo/MONDO_0018045	http://identifiers.org/mesh/C536068|http://identifiers.org/snomedct/707276009|UMLS:C1846142|Orphanet:3322	ordo_disease
MONDO:0021681	biolink:Disease	sexually transmitted disease	A Disease due to or propagated by sexual contact.	UMLS:C0036916|MESH:D012749|ICD9:099.8|ICD9:099.9|NCIT:C3365|SCTID:8098009|ICD10CM:A50-A64	mondo.json	infection, sexually Transmitted|venereal disease (VD)|Transmitted infection, sexually|STDs|venereal disease|VD, venereal disease|diseases, venereal|infections, sexually Transmitted|sexually Transmitted infection|disease (VD), venereal|STIs|sexually transmitted disease|disease, sexually Transmitted|STD|Transmitted infections, sexually|sexually Transmitted infections|diseases, sexually Transmitted|sexually Transmitted disorder|VD|disease, venereal|STI|venereal diseases	http://purl.obolibrary.org/obo/MONDO_0021681	http://identifiers.org/snomedct/8098009|UMLS:C0036916|NCIT:C3365|http://purl.bioontology.org/ontology/ICD10CM/A50-A64|http://identifiers.org/mesh/D012749	
MONDO:0021682	biolink:Disease	viral sexually transmitted disease	Viral diseases which are potentially transmitted or propagated by sexual conduct.	MESH:D015229|UMLS:C0036918	mondo.json	disease, viral venereal|viral sexually Transmitted diseases|viral venereal disease|venereal disease, viral|diseases, viral venereal|venereal diseases, viral|viral sexually transmitted disease|sexually Transmitted disease, viral|viral venereal diseases	http://purl.obolibrary.org/obo/MONDO_0021682	UMLS:C0036918|http://identifiers.org/mesh/D015229	
MONDO:0018031	biolink:Disease	granulomatous slack skin disease	Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin.	NCIT:C35464|SCTID:277796003|UMLS:C0376407|ICD10CM:C84.0|Orphanet:33111|GARD:0010986	mondo.json	granulomatous slack skin	http://purl.obolibrary.org/obo/MONDO_0018031	NCIT:C35464|http://identifiers.org/snomedct/277796003|UMLS:C0376407|Orphanet:33111	ordo_disease
MONDO:0021683	biolink:Disease	obsolete transmissible disease	OBSOLETE A disease that can be transmitted from one organism to another, typically but not always by an infectious process.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0021683		
MONDO:0018030	biolink:Disease	tetrasomy 9p	Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism).	Orphanet:3310|SCTID:715530004|MESH:C538027|GARD:0000042|UMLS:C0795832	mondo.json	Mosaic tetrasomy 9p|tetrasomy type 9p|tetrasomy of short arm of chromosome 9|Isochromosome 9p|chromosome 9p tetrasomy	http://purl.obolibrary.org/obo/MONDO_0018030	UMLS:C0795832|http://identifiers.org/snomedct/715530004|Orphanet:3310|http://identifiers.org/mesh/C538027	ordo_malformation_syndrome|gard_rare
MONDO:0021684	biolink:Disease	obsolete infectious disease of central nervous system			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021684		
MONDO:0006068	biolink:Disease	ACTH-producing pituitary gland adenoma	An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion.	UMLS:C1306214|NCIT:C7462|EFO:1000066	mondo.json	adrenocorticotropin producing adenoma of the pituitary|adrenocorticotropin secreting pituitary gland adenoma|ACTH-producing pituitary gland adenoma|adrenocorticotropin producing adenoma of pituitary|adrenocorticotropin secreting adenoma of the pituitary gland|ACTH-producing pituitary adenoma|adrenocorticotropin secreting pituitary adenoma|ACTH producing pituitary gland adenoma|pituitary ACTH-secreting adenoma|adrenocorticotropin secreting adenoma of pituitary gland|adrenocorticotropin secreting adenoma of the pituitary|adrenocorticotropin producing pituitary gland adenoma|pituitary gland ACTH-secreting adenoma|ACTHoma|adrenocorticotropin secreting adenoma of pituitary|ACTH secreting adenoma of the pituitary|pituitary ACTH secreting adenoma|ACTH-secreting adenoma of the pituitary gland|ACTH secreting adenoma of pituitary|adrenocorticotropin producing pituitary adenoma|ACTH-secreting adenoma of pituitary gland|ACTH-secreting adenoma of the pituitary|corticotropin secreting pituitary gland adenoma|corticotroph adenoma|Corticotropinoma|ACTH-secreting adenoma of pituitary|corticotropic adenoma|corticotropin secreting adenoma of the pituitary|pituitary corticotropin secreting adenoma|adrenocorticotropin producing adenoma of the pituitary gland|adrenocorticotropin producing adenoma of pituitary gland	http://purl.obolibrary.org/obo/MONDO_0006068	NCIT:C7462	
MONDO:0006069	biolink:Disease	ACTH-producing pituitary gland carcinoma	A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease.	NCIT:C5964|UMLS:C1334556|EFO:1000067|DOID:6276	mondo.json	malignant ACTH producing neoplasm of pituitary gland|malignant adrenocorticotropin producing tumor of pituitary gland|malignant ACTH secreting neoplasm of the pituitary|malignant adrenocorticotropin secreting pituitary gland neoplasm|malignant ACTH secreting pituitary gland tumor|malignant ACTH secreting neoplasm of pituitary|malignant adrenocorticotropin producing tumor of the pituitary|malignant adrenocorticotropin producing tumor of pituitary|malignant ACTH secreting pituitary neoplasm|malignant ACTH secreting pituitary tumor|malignant ACTH producing neoplasm of the pituitary gland|malignant ACTH producing tumor of the pituitary gland|malignant Corticotropinoma of the pituitary|malignant adrenocorticotropin secreting pituitary gland tumor|malignant ACTH producing tumor of pituitary gland|malignant ACTH producing tumor of the pituitary|malignant ACTH producing pituitary gland tumor|malignant ACTH producing neoplasm of the pituitary|malignant ACTH producing tumor of pituitary|ACTH producing pituitary gland carcinoma|malignant adrenocorticotropin secreting pituitary tumor|malignant ACTH producing neoplasm of pituitary|malignant corticotropin secreting pituitary gland neoplasm|malignant pituitary Corticotropinoma|malignant ACTH producing pituitary tumor|malignant adrenocorticotropin producing neoplasm of the pituitary gland|malignant adrenocorticotropin producing neoplasm of pituitary gland|malignant ACTH secreting tumor of the pituitary gland|malignant adrenocorticotropin producing pituitary gland tumor|malignant pituitary gland Corticotropinoma|malignant ACTH secreting tumor of pituitary gland|malignant adrenocorticotropin producing pituitary neoplasm|malignant Corticotropinoma of the pituitary gland|malignant adrenocorticotropin producing neoplasm of the pituitary|malignant ACTH secreting tumor of the pituitary|malignant adrenocorticotropin producing neoplasm of pituitary|malignant Corticotropinoma of pituitary gland|malignant adrenocorticotropin producing pituitary gland neoplasm|malignant ACTH secreting tumor of pituitary|malignant adrenocorticotropin producing pituitary tumor|malignant Corticotropinoma of pituitary|malignant ACTH producing pituitary neoplasm|malignant ACTH secreting neoplasm of the pituitary gland|malignant adrenocorticotropin secreting pituitary neoplasm|malignant ACTH producing pituitary gland neoplasm|malignant adrenocorticotropin producing tumor of the pituitary gland|malignant ACTH secreting neoplasm of pituitary gland	http://purl.obolibrary.org/obo/MONDO_0006069	DOID:6276|NCIT:C5964|UMLS:C1334556	
MONDO:0006066	biolink:Disease	acinar prostate adenocarcinoma, foamy gland variant	A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm.	NCIT:C39882|EFO:1000064|UMLS:C1515863	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006066	UMLS:C1515863|NCIT:C39882	
MONDO:0006067	biolink:Disease	acinar prostate mucinous adenocarcinoma	A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin.	EFO:1000065|NCIT:C5537|DOID:3703|UMLS:C1335513	mondo.json	mucinous adenocarcinoma of prostate|mucinous adenocarcinoma of the prostate|colloid adenocarcinoma of prostate|colloid adenocarcinoma of the prostate|prostate colloid adenocarcinoma|acinar colloid prostate adenocarcinoma|colloidal prostate adenocarcinoma|colloidal adenocarcinoma of prostate|colloidal adenocarcinoma of the prostate	http://purl.obolibrary.org/obo/MONDO_0006067	DOID:3703|NCIT:C5537|UMLS:C1335513	
MONDO:0006064	biolink:Disease	obsolete lactose intolerance			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006064		
MONDO:0021680	biolink:Disease	streptococcal infection	Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G.	ICD9:041.09|MESH:D013290|UMLS:C0038395|EFO:1001476|ICD9:041.00|SCTID:85769006|NCIT:C87062	mondo.json	Streptococcus disease or disorder|infections, streptococcal|streptococcal infection|infection, streptococcal|Streptococcus infectious disease|Streptococcus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0021680	http://identifiers.org/mesh/D013290|UMLS:C0038395|http://identifiers.org/snomedct/85769006|NCIT:C87062	
MONDO:0006065	biolink:Disease	lactose intolerance adult type	Adult onset lactose intolerance	Orphanet:319681|OMIM:223100|EFO:1000063	mondo.json	hypolactasia, adult type|adult lactase deficiency|disaccharide intolerance 3|lactase persistence/nonpersistence|lactose intolerance, ADULT type	http://purl.obolibrary.org/obo/MONDO_0006065	https://omim.org/entry/223100|Orphanet:319681	
MONDO:0006062	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0006062		
MONDO:0006063	biolink:Disease	obsolete carbohydrate metabolic disorder			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006063		
GO:0043549	biolink:NamedThing	regulation of kinase activity	Any process that modulates the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0043549		
MONDO:0006060	biolink:Disease	nasopharyngeal squamous cell carcinoma	A squamous cell carcinoma that arises from the nasopharynx.	NCIT:C3871|MESH:C538339|EFO:1000058	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006060		
MONDO:0006061	biolink:Disease	cervical artery dissection	A tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the "false lumen" created by the new space within the wall of the artery.	EFO:1000059	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006061		
MONDO:0021678	biolink:Disease	gram-negative bacterial infections	Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method.	ICD9:041.85|MESH:D016905|SCTID:371583007	mondo.json	gram-negative bacterial infection|bacterial infections, gram negative|infections, gram negative bacterial|bacterial infections, gram-negative|infections, gram-negative bacterial|bacterial infection, gram-negative|infection, gram-negative bacterial|gram negative bacterial infections	http://purl.obolibrary.org/obo/MONDO_0021678	http://identifiers.org/snomedct/371583007|http://identifiers.org/mesh/D016905	
MONDO:0018037	biolink:Disease	hyper-IgE syndrome	A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections.	OMIMPS:147060|DOID:0080545|UMLS:CN204280|NCIT:C3144|Orphanet:331223|GARD:0010956	mondo.json	HIES|hyperimmunoglobulin E syndrome|hyper-IgE recurrent infection syndrome	http://purl.obolibrary.org/obo/MONDO_0018037	https://omim.org/phenotypicSeries/PS147060|DOID:0080545|Orphanet:331223|UMLS:CN204280|NCIT:C3144	gard_rare|disease_grouping|ordo_group_of_disorders
MONDO:0018036	biolink:Disease	obsolete immunodeficiency due to absence of thymus		Orphanet:331220	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018036	Orphanet:331220	ordo_group_of_disorders
MONDO:0021679	biolink:Disease	gram-positive bacterial infections	Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method.	SCTID:371582002|MESH:D016908|ICD9:041.89	mondo.json	Gram Positive bacterial infections|infections, Gram Positive bacterial|bacterial infections, Gram Positive|infections, Gram-positive bacterial|bacterial infections, Gram-positive|bacterial infection, Gram-positive|infection, Gram-positive bacterial|Gram-positive bacterial infection	http://purl.obolibrary.org/obo/MONDO_0021679	http://identifiers.org/snomedct/371582002|http://identifiers.org/mesh/D016908	
MONDO:0018039	biolink:Disease	selective IgM deficiency	Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M (IgM), normal levels of other immunoglobulins, and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines, people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement.	SCTID:190980000|GARD:0012547|Orphanet:331235|DOID:0050222|ICD9:279.02	mondo.json	selective immunoglobulin M deficiency|selective IgM deficiency disease|SIgMD	http://purl.obolibrary.org/obo/MONDO_0018039	http://identifiers.org/snomedct/190980000|DOID:0050222|Orphanet:331235	ordo_disease|gard_rare
HGNC:18324	biolink:NamedThing	HSD3B7			mondo.json		http://identifiers.org/hgnc/18324		
MONDO:0018038	biolink:Disease	obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells		Orphanet:331232	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018038	Orphanet:331232	ordo_group_of_disorders|disease_grouping
MONDO:0018033	biolink:Disease	obsolete other immunodeficiency syndromes due to defects in innate immunity		UMLS:CN204276|Orphanet:331193	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018033	Orphanet:331193|UMLS:CN204276	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0018032	biolink:Disease	obsolete constitutional neutropenia with extra-hematopoietic manifestations		Orphanet:331184	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018032	Orphanet:331184	disease_grouping|ordo_group_of_disorders
MONDO:0018035	biolink:Disease	obsolete syndrome with combined immunodeficiency		UMLS:CN204279|Orphanet:331217	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018035	Orphanet:331217|UMLS:CN204279	ordo_group_of_disorders
MONDO:0018034	biolink:Disease	thalidomide embryopathy	A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment.	ICD9:759.89|SCTID:36193003|GARD:0002313|Orphanet:3312|UMLS:C0432365|NCIT:C99082|MedDRA:10071249	mondo.json	thalidomide-induced birth defect|fetal thalidomide syndrome|thalidomide embryopathy syndrome	http://purl.obolibrary.org/obo/MONDO_0018034	http://identifiers.org/snomedct/36193003|NCIT:C99082|UMLS:C0432365|Orphanet:3312	ordo_disease
MONDO:0021670	biolink:Disease	post-infectious syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021670		
MONDO:0033619	biolink:Disease	myopathy, epilepsy, and progressive cerebral atrophy		OMIM:619036	mondo.json	MEPCA	http://purl.obolibrary.org/obo/MONDO_0033619	https://omim.org/entry/619036	
MONDO:0018020	biolink:Disease	mercury poisoning	Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity.	EFO:1001810|GARD:0007021|ICD9:985.0|MESH:D008630|Orphanet:330021|SCTID:85180002	mondo.json	mercurialism|Mercury intoxication|hydrargyria|Mercury toxicity	http://purl.obolibrary.org/obo/MONDO_0018020	http://identifiers.org/mesh/D008630|Orphanet:330021|http://identifiers.org/snomedct/85180002	gard_rare|ordo_disease
MONDO:0033618	biolink:Disease	Vissers-Bodmer syndrome		OMIM:619033	mondo.json	VIBOS	http://purl.obolibrary.org/obo/MONDO_0033618	https://omim.org/entry/619033	
MONDO:0021673	biolink:Disease	post-bacterial disorder			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021673		
MONDO:0021674	biolink:Disease	post-viral disorder	A post-infectious disorder that follows viral infection but is distinct from the viral infection itself and its usual manifestations.	SCTID:123948009|ICD9:139.8	mondo.json	sequela of viral disease	http://purl.obolibrary.org/obo/MONDO_0021674	http://identifiers.org/snomedct/123948009	
MONDO:0033615	biolink:Disease	coenzyme q10 deficiency, primary, 9		OMIM:619028	mondo.json	COQ10D9	http://purl.obolibrary.org/obo/MONDO_0033615	https://omim.org/entry/619028	
MONDO:0006039	biolink:Disease	infectious colitis	A viral or bacterial infectious process affecting the large intestine.	UMLS:C0277524|SCTID:39341005|EFO:1000035|NCIT:C78359	mondo.json	infectious colitis	http://purl.obolibrary.org/obo/MONDO_0006039	NCIT:C78359|http://identifiers.org/snomedct/39341005|UMLS:C0277524	
MONDO:0033614	biolink:Disease	spastic paraplegia 83, autosomal recessive		OMIM:619027	mondo.json	SPG83	http://purl.obolibrary.org/obo/MONDO_0033614	https://omim.org/entry/619027	
MONDO:0033613	biolink:Disease	neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities		OMIM:619026|UMLS:C2751938|MESH:C567853|GARD:0010447|OMIM:603513	mondo.json	cerebral palsy, spastic quadriplegic, 1|CPSQ1|NEDSWMA|cerebral palsy, spastic quadriplegic, type 1|cerebral palsy spastic quadriplegic	http://purl.obolibrary.org/obo/MONDO_0033613	https://omim.org/entry/619026|http://identifiers.org/mesh/C567853|https://omim.org/entry/603513|UMLS:C2751938	gard_rare
MONDO:0021677	biolink:Disease	post-infectious neuralgia		SCTID:17111003|ICD9:729.2|UMLS:C0032772	mondo.json	postinfectious neuralgia	http://purl.obolibrary.org/obo/MONDO_0021677	http://identifiers.org/snomedct/17111003|UMLS:C0032772	
MONDO:0006037	biolink:Disease	hydrolethalus syndrome	Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.	DOID:0050779|Orphanet:2189|GARD:0006683|SCTID:721232000|UMLS:C2931104|EFO:1000033|MESH:C536079|OMIMPS:236680	mondo.json	Salonen-Herva-Norio syndrome|hydrolethalus|HLS	http://purl.obolibrary.org/obo/MONDO_0006037	http://identifiers.org/snomedct/721232000|Orphanet:2189|http://identifiers.org/mesh/C536079|DOID:0050779|https://omim.org/phenotypicSeries/PS236680|UMLS:C2931104	gard_rare|ordo_malformation_syndrome
MONDO:0006038	biolink:Disease	indeterminate colitis	It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy.	SCTID:235746007|NCIT:C27110|UMLS:C0341332|EFO:1000034|ICD10CM:K52.3|ICD9:558.9	mondo.json	colitis of indeterminate type	http://purl.obolibrary.org/obo/MONDO_0006038	http://purl.bioontology.org/ontology/ICD10CM/K52.3|http://identifiers.org/snomedct/235746007|NCIT:C27110|UMLS:C0341332	
MONDO:0008699	biolink:Disease	achalasia microcephaly syndrome	Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed.	SCTID:718573009|UMLS:C1860212|OMIM:200450|Orphanet:929|GARD:0000456|DOID:0050796|MESH:C536010	mondo.json	achalasia microcephaly|achalasia-microcephaly syndrome	http://purl.obolibrary.org/obo/MONDO_0008699	UMLS:C1860212|http://identifiers.org/mesh/C536010|https://omim.org/entry/200450|DOID:0050796|Orphanet:929|http://identifiers.org/snomedct/718573009	ordo_malformation_syndrome|gard_rare
GO:0043555	biolink:NamedThing	regulation of translation in response to stress	Modulation of the frequency, rate or extent of translation as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation).		mondo.json	translational stress response	http://purl.obolibrary.org/obo/GO_0043555		
MONDO:0008698	biolink:Disease	achalasia	A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food.	HP:0002571|DOID:9164|ICD9:530.0|UMLS:C2939435|UMLS:C1321756|SCTID:235630008	mondo.json	achalasia of cardia|achalasia|achalasia (disease)|achalasia of esophagus|hypertensive lower esophageal sphincter|cardiospasm|lack of reflex relaxation of lower oesophageal sphincter|esophageal achalasia	http://purl.obolibrary.org/obo/MONDO_0008698	UMLS:C1321756|http://identifiers.org/snomedct/235630008|DOID:9164	
MONDO:0006035	biolink:Disease	gastric tubular adenocarcinoma	A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules.	NCIT:C5473|ONCOTREE:TSTAD|UMLS:C1333791|EFO:1000030|DOID:6595	mondo.json	tubular stomach adenocarcinoma|tubular adenocarcinoma of stomach|stomach tubular adenocarcinoma|gastric tubular adenocarcinoma|tubular adenocarcinoma of the stomach	http://purl.obolibrary.org/obo/MONDO_0006035	UMLS:C1333791|DOID:6595|NCIT:C5473	
MONDO:0006036	biolink:Disease	granulosa cell tumor	A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms.	ONCOTREE:GRCT|NCIT:C3070|MESH:D006106|UMLS:C0018206|EFO:1000032|DOID:2999	mondo.json	neoplasm of granulosa cell|granulosa cell tumor, adult type (morphologic abnormality)|granulosa cell tumour, sarcomatoid|granulosa cell tumor, undetermined|granulosa cell tumor|tumor of granulosa cell|granulosa cell tumor, adult type|GRCT|granulosa cell neoplasm (disease)|granulosa cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0006036	NCIT:C3070|http://identifiers.org/mesh/D006106|UMLS:C0018206|DOID:2999	
NCBITaxon:43755	biolink:OrganismalEntity	Oestroidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_43755		
MONDO:0008697	biolink:Disease	obsolete acetophenetidin sensitivity		OMIM:200300	mondo.json	Acetophenetidin sensitivity	http://purl.obolibrary.org/obo/MONDO_0008697	https://omim.org/entry/200300	
MONDO:0006033	biolink:Disease	diffuse intrinsic pontine glioma	A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis.	ONCOTREE:DIPG|NCIT:C94764|EFO:1000026|UMLS:C2986658|MESH:D000080443|Orphanet:497188|GARD:0013075	mondo.json	diffuse midline glioma|DIPG|infiltrative brainstem glioma	http://purl.obolibrary.org/obo/MONDO_0006033	Orphanet:497188|NCIT:C94764|UMLS:C2986658|http://identifiers.org/mesh/D000080443	ordo_disease|gard_rare
MONDO:0008696	biolink:Disease	acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome	This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy.	UMLS:C1860215|Orphanet:90301|GARD:0000453|OMIM:200170|MESH:C536000	mondo.json	familial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps|acanthosis nigricans with muscle cramps and acral enlargement|acanthosis nigricans muscle cramps acral enlargement	http://purl.obolibrary.org/obo/MONDO_0008696	https://omim.org/entry/200170|Orphanet:90301|http://identifiers.org/mesh/C536000|UMLS:C1860215	ordo_disease
MONDO:0006034	biolink:Disease	gastric adenosquamous carcinoma	A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation.	EFO:1000029|NCIT:C5474|ONCOTREE:STAS|DOID:5635|UMLS:C1333761	mondo.json	stomach adenosquamous carcinoma|gastric (stomach) adenosquamous cancer|adenosquamous carcinoma of the stomach|adenosquamous carcinoma of stomach|STAS|gastric adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006034	UMLS:C1333761|DOID:5635|NCIT:C5474	
MONDO:0008695	biolink:Disease	chorea-acanthocytosis	Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.	GARD:0003956|DOID:0050766|OMIM:200150|ICD9:333.0|Orphanet:2388|SCTID:66881004	mondo.json	neuroacanthocytosis|choreo-acanthocytosis|choreoacanthocytosis|chorea-acanthocytosis|chorea acanthocytosis|acanthocytosis with neurologic disorder|Chac|Levine-Critchley syndrome|choreaacanthocytosis|CHOREOACANTHOCYTOSIS	http://purl.obolibrary.org/obo/MONDO_0008695	Orphanet:2388|https://omim.org/entry/200150|DOID:0050766|http://identifiers.org/snomedct/66881004	ordo_disease
MONDO:0006031	biolink:Disease	chronic rhinosinusitis	Chronic form of sinusitis.	UMLS:C0149516|ICD9:473.8|ICD9:473.9|EFO:1000024|PMID:25838086|SCTID:40055000|NCIT:C35151	mondo.json	chronic sinusitis|sinusitis, chronic	http://purl.obolibrary.org/obo/MONDO_0006031	NCIT:C35151|http://identifiers.org/snomedct/40055000|UMLS:C0149516	
NCBITaxon:43750	biolink:OrganismalEntity	Sciomyzoidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_43750		
MONDO:0008694	biolink:Disease	pseudoprogeria syndrome	Pseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers.	GARD:0000415|MESH:C563111|OMIM:200130|Orphanet:2985|SCTID:733086003|UMLS:C0796125	mondo.json	absent eyebrows and eyelashes with mental retardation|pseudoprogeria syndrome|Hal-Berg-Rudolph syndrome|absent eyebrows and eyelashes-intellectual disability syndrome|intellectual disability, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose|absent eyebrows and eyelashes with intellectual disability|mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose|eyebrows and eyelashes absence-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0008694	https://omim.org/entry/200130|Orphanet:2985|http://identifiers.org/mesh/C563111|http://identifiers.org/snomedct/733086003|UMLS:C0796125	gard_rare|ordo_malformation_syndrome
MONDO:0008693	biolink:Disease	ablepharon macrostomia syndrome	Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.	OMIM:200110|MESH:C535557|GARD:0000003|SCTID:718575002|DOID:0060550|Orphanet:920|UMLS:C1860224	mondo.json	congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies|AMS|ablepharon-macrostomia syndrome	http://purl.obolibrary.org/obo/MONDO_0008693	https://omim.org/entry/200110|UMLS:C1860224|http://identifiers.org/snomedct/718575002|Orphanet:920|http://identifiers.org/mesh/C535557|DOID:0060550	gard_rare|ordo_malformation_syndrome
MONDO:0006032	biolink:Disease	cystitis	Inflammation of the urinary bladder.	EFO:1000025|ICD9:595.9|ICD9:595.89|NCIT:C26738|DOID:1679|SCTID:38822007|ICD9:595|UMLS:C0010692|MESH:D003556	mondo.json	urinary bladder inflammation|inflammation of urinary bladder|bladder infection	http://purl.obolibrary.org/obo/MONDO_0006032	http://identifiers.org/mesh/D003556|http://identifiers.org/snomedct/38822007|UMLS:C0010692|DOID:1679|NCIT:C26738	
MONDO:0008692	biolink:Disease	abetalipoproteinemia	Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.	MESH:D000012|OMIM:200100|GARD:0000005|NCIT:C84525|DOID:1386|SCTID:190787008|Orphanet:14|UMLS:C0000744	mondo.json	familial hypobetalipoproteinemia|Betalipoprotein deficiency disease|homozygous familial hypobetalipoproteinemia|ABL|microsomal triglyceride transfer protein deficiency disease|microsomal triglyceride transfer Protein deficiency|abetalipoproteinemia|congenital betalipoprotein deficiency syndrome|abetalipoproteinemia neuropathy|Bassen Kornzweig syndrome|Bassen-Kornzweig disease|acanthocytosis|MTP deficiency|apolipoprotein B deficiency|Bassen-Kornzweig syndrome	http://purl.obolibrary.org/obo/MONDO_0008692	https://omim.org/entry/200100|http://identifiers.org/mesh/D000012|http://identifiers.org/snomedct/190787008|UMLS:C0000744|DOID:1386|Orphanet:14|NCIT:C84525	ordo_disease
MONDO:0008691	biolink:Disease	zinc, elevated plasma		OMIM:194470	mondo.json	hyperzincemia and hypercalprotectinemia|zinc, elevated plasma|hyperzincemia, familial Dysalbuminemic|albumin binding of zinc, elevated	http://purl.obolibrary.org/obo/MONDO_0008691	https://omim.org/entry/194470	
MONDO:0006030	biolink:Disease	chronic cystitis	Recurrent infections of the urinary bladder.	DOID:1680|EFO:1000023|ICD9:595.2|UMLS:C0221763|NCIT:C27008|SCTID:33655002	mondo.json	cystitis, chronic	http://purl.obolibrary.org/obo/MONDO_0006030	NCIT:C27008|http://identifiers.org/snomedct/33655002|UMLS:C0221763|DOID:1680	
MONDO:0008690	biolink:Disease	xeroderma pigmentosum, autosomal dominant, mild		UMLS:C1860231|OMIM:194400|MESH:C565989	mondo.json	xeroderma pigmentosum, autosomal dominant, mild	http://purl.obolibrary.org/obo/MONDO_0008690	https://omim.org/entry/194400|UMLS:C1860231|http://identifiers.org/mesh/C565989	
MONDO:0018029	biolink:Disease	congenital factor XIII deficiency	Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies.	Orphanet:331|SCTID:50189006|GARD:0010766|MESH:D005177|ICD9:286.3|DOID:2211|NCIT:C131633	mondo.json	deficiency, Laki-Lorand factor|hereditary factor XIII deficiency disease|factor XIII deficiency disease|fibrin stabilizing factor deficiency|factor XIII deficiency|fibrin-stabilizing factor deficiency	http://purl.obolibrary.org/obo/MONDO_0018029	Orphanet:331|http://identifiers.org/snomedct/50189006|DOID:2211|NCIT:C131633|http://identifiers.org/mesh/D005177	ordo_disease
GO:0043558	biolink:NamedThing	regulation of translational initiation in response to stress	Any process that modulates the frequency, rate or extent of translation initiation, as a result of a stimulus indicating the organism is under stress.		mondo.json	regulation of translation initiation in response to stress	http://purl.obolibrary.org/obo/GO_0043558		
MONDO:0018026	biolink:Disease	tetraploidy syndrome	The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages.	GARD:0005151|UMLS:C0795884|Orphanet:3305|MESH:D057891|SCTID:726363000	mondo.json	tetraploidy	http://purl.obolibrary.org/obo/MONDO_0018026	Orphanet:3305|http://identifiers.org/mesh/D057891|UMLS:C0795884|http://identifiers.org/snomedct/726363000	ordo_malformation_syndrome|gard_rare
MONDO:0021667	biolink:Disease	neuralgia	A pain disorder characterize by pain in the distribution of a nerve or nerves	MESH:D009437|SCTID:16269008|ICD9:729.2	mondo.json	paroxysmal nerve pains|neuralgia|paroxysmal nerve pain|pain, neuropathic|pain, nerve	http://purl.obolibrary.org/obo/MONDO_0021667	http://identifiers.org/mesh/D009437|http://identifiers.org/snomedct/16269008	
MONDO:0033622	biolink:Disease	spermatogenic failure 44		OMIM:619044	mondo.json	SPGF44	http://purl.obolibrary.org/obo/MONDO_0033622	https://omim.org/entry/619044	
MONDO:0018025	biolink:Disease	chronic actinic dermatitis		UMLS:C1510437|ICD9:692.73|Orphanet:330064|SCTID:52636001	mondo.json	chronic photosensitivity dermatitis|actinic reticuloid	http://purl.obolibrary.org/obo/MONDO_0018025	http://identifiers.org/snomedct/52636001|Orphanet:330064|UMLS:C1510437	ordo_disease
MONDO:0021668	biolink:Disease	obsolete disorder involving pain		DOID:0060164|UMLS:C1300028|SCTID:373673007	mondo.json	pain disorder	http://purl.obolibrary.org/obo/MONDO_0021668	UMLS:C1300028|DOID:0060164|http://identifiers.org/snomedct/373673007	
MONDO:0033621	biolink:Disease	spinal muscular atrophy, infantile, James type		OMIM:619042	mondo.json	SMAJI	http://purl.obolibrary.org/obo/MONDO_0033621	https://omim.org/entry/619042	
MONDO:0021669	biolink:Disease	post-infectious disorder	A disorder that follows infection but is distinct from the infection itself and its usual manifestations.	ICD9:139.8|SCTID:123976001|ICD10CM:B90-B94	mondo.json	sequela of infectious disorder	http://purl.obolibrary.org/obo/MONDO_0021669	http://identifiers.org/snomedct/123976001|http://purl.bioontology.org/ontology/ICD10CM/B90-B94	
MONDO:0018028	biolink:Disease	tetrasomy 5p	Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).	Orphanet:3309|SCTID:766755003	mondo.json	tetrasomy type 5p|Isochromosome 5p	http://purl.obolibrary.org/obo/MONDO_0018028	Orphanet:3309|http://identifiers.org/snomedct/766755003	ordo_malformation_syndrome
MONDO:0018027	biolink:Disease	duplication/inversion 15q11	Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.	GARD:0005153|Orphanet:3306|SCTID:723332005|MESH:C580205	mondo.json	tetrasomy 15q|Isodicentric 15 chromosome|Duplication/inversion type 15q11|non-distal tetrasomy 15q|Inv dup(15)|non-telomeric tetrasomy 15q|duplication/inversion 15q11|Invdup(15)|inverted duplication 15|chromosome 15q tetrasomy|Isodicentric chromosome 15 syndrome|idic(15)	http://purl.obolibrary.org/obo/MONDO_0018027	Orphanet:3306|http://identifiers.org/mesh/C580205|http://identifiers.org/snomedct/723332005	ordo_malformation_syndrome|gard_rare
MONDO:0033620	biolink:Disease	myofibrillar myopathy 10		OMIM:619040	mondo.json	MFM10	http://purl.obolibrary.org/obo/MONDO_0033620	https://omim.org/entry/619040	
MONDO:0018022	biolink:Disease	hemoglobin Lepore-beta-thalassemia syndrome		Orphanet:330032|UMLS:CN227251	mondo.json	HbLepore-beta-thalassemia syndrome|Lepore-beta-thalassemia syndrome	http://purl.obolibrary.org/obo/MONDO_0018022	UMLS:CN227251|Orphanet:330032	ordo_disease
MONDO:0018021	biolink:Disease	hypotrichosis-deafness syndrome		Orphanet:330029|UMLS:CN204237	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018021	Orphanet:330029|UMLS:CN204237	ordo_disease
MONDO:0018024	biolink:Disease	hydroa vacciniforme	A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas.	MESH:D006837|UMLS:C0020241|Orphanet:330058|NCIT:C84766|SCTID:200837006|GARD:0009654	mondo.json	hV	http://purl.obolibrary.org/obo/MONDO_0018024	NCIT:C84766|http://identifiers.org/snomedct/200837006|Orphanet:330058|http://identifiers.org/mesh/D006837|UMLS:C0020241	ordo_disease|gard_rare
MONDO:0018023	biolink:Disease	hemoglobin M disease		GARD:0013007|UMLS:CN204238|Orphanet:330041|SCTID:74912001|OMIM:617971|MESH:C581942|UMLS:C3665425	mondo.json	M hemoglobinopathy|methemoglobinemia, beta type|methemoglobinemia, beta-globin type|autosomal dominant methemoglobinemia|blue baby syndrome|hereditary methemoglobinemia due to hemoglobin mutation	http://purl.obolibrary.org/obo/MONDO_0018023	UMLS:C3665425|http://identifiers.org/snomedct/74912001|https://omim.org/entry/617971|Orphanet:330041|http://identifiers.org/mesh/C581942|UMLS:CN204238	ordo_disease
MONDO:0021660	biolink:Disease	deep seated dermatophytosis	A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars.	Orphanet:397587|NCIT:C35073|UMLS:C1395264	mondo.json	disseminated granulomatous dermatophytosis|deep seated dermatophytosis|deep dermatophytosis	http://purl.obolibrary.org/obo/MONDO_0021660	Orphanet:397587|UMLS:C1395264|NCIT:C35073	ordo_disease
MONDO:0021661	biolink:Disease	coronary atherosclerosis	Atherosclerosis of the coronary vasculature.	SCTID:443502000|NCIT:C35505|ICD9:414.00	mondo.json	coronary atherosclerosis|arteriosclerosis disorder of coronary artery|atherosclerosis of coronary artery|coronary artery arteriosclerosis disorder|coronary artery arteriosclerosis (disease)	http://purl.obolibrary.org/obo/MONDO_0021661	NCIT:C35505|http://identifiers.org/snomedct/443502000	
MONDO:0021662	biolink:Disease	bile duct neoplasm	A benign or malignant neoplasm that affects the intrahepatic or extrahepatic bile ducts. Representative examples of benign neoplasms include bile duct adenoma and extrahepatic bile duct lipoma. Representative examples of malignant neoplasms include intrahepatic and extrahepatic cholangiocarcinoma.	MESH:D001650|UMLS:C0005396|NCIT:C2898	mondo.json	bile duct neoplasm (disease)|bile duct tumor|intrahepatic and extrahepatic bile duct tumor|tumor of bile duct|bile duct neoplasm|neoplasm of bile duct|intrahepatic and extrahepatic bile duct neoplasm	http://purl.obolibrary.org/obo/MONDO_0021662	UMLS:C0005396|http://identifiers.org/mesh/D001650|NCIT:C2898	
MONDO:0021663	biolink:Disease	sarcomatoid squamous cell carcinoma	A poorly differentiated squamous cell carcinoma characterized by the presence of malignant cells with spindle cell features.	ICD9:199.1|SCTID:403900000|NCIT:C27084|ICDO:8074/3	mondo.json	epidermoid spindle cell carcinoma|spindle cell (sarcomatoid) squamous cell carcinoma|squamous cell carcinoma, spindle cell|sarcomatoid squamous cell carcinoma|squamous cell carcinoma, sarcomatoid|squamous cell spindle cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0021663	NCIT:C27084|http://identifiers.org/snomedct/403900000	
MONDO:0021664	biolink:Disease	cervical aortic arch		Orphanet:99079	mondo.json	aortic arch syndrome	http://purl.obolibrary.org/obo/MONDO_0021664	Orphanet:99079	obsoletion_candidate
NCBITaxon:43746	biolink:OrganismalEntity	Ephydroidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_43746		
MONDO:0021665	biolink:Disease	obsolete Refsum disease	OBSOLETE. A rare autosomal recessive condition caused by mutation(s) in the PHYH gene, encoding phytanoyl-CoA dioxygenase, peroxisomal. It is characterized by abnormalities in the breakdown of phytanic acid and impaired growth of myelin sheaths. Signs and symptoms include neurologic damage, cerebellar degeneration, and neuropathy.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0021665		
MONDO:0021666	biolink:Disease	ear infection	A viral or bacterial infection that affects the external, middle, or inner ear. It may follow an upper respiratory infection. Signs and symptoms include pain, ear discharge, ear fullness, hearing loss, vertigo, nausea, and vomiting.	MESH:D010031|NCIT:C27193|UMLS:C0699744	mondo.json	otitis|Ear infection	http://purl.obolibrary.org/obo/MONDO_0021666	UMLS:C0699744|http://identifiers.org/mesh/D010031|NCIT:C27193	
NCBITaxon:43741	biolink:OrganismalEntity	Acalyptratae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_43741		
MONDO:0006048	biolink:Disease	obsolete pancreatic neuroendocrine tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006048		
MONDO:0006049	biolink:Disease	papillary lung adenocarcinoma	A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures.	DOID:5588|NCIT:C5650|ICD9:162.9|EFO:1000046|SCTID:707411007|UMLS:C1335325	mondo.json	papillary adenocarcinoma of lung|lung papillary-adenocarcinoma|papillary lung adenocarcinoma|papillary adenocarcinoma of the lung|lung papillary adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006049	UMLS:C1335325|http://identifiers.org/snomedct/707411007|DOID:5588|NCIT:C5650	
NCBITaxon:43742	biolink:OrganismalEntity	Calyptratae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_43742		
MONDO:0006046	biolink:Disease	ovarian serous cystadenocarcinoma	A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features.	DOID:5746|EFO:1000043|UMLS:C0279663|NCIT:C7978	mondo.json	ovarian serous cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006046	UMLS:C0279663|DOID:5746|NCIT:C7978	
MONDO:0006047	biolink:Disease	pancreatic adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the pancreas	SCTID:700423003|UMLS:C0281361|EFO:1000044|ONCOTREE:PAAD|DOID:4074|NCIT:C8294	mondo.json	adenocarcinoma - pancreas|adenocarcinoma of pancreas|PAAD|pancreas adenocarcinoma|pancreatic adenocarcinoma|adenocarcinoma of the pancreas	http://purl.obolibrary.org/obo/MONDO_0006047	DOID:4074|UMLS:C0281361|NCIT:C8294|http://identifiers.org/snomedct/700423003	
GO:0043565	biolink:NamedThing	sequence-specific DNA binding	Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding.		mondo.json	sequence specific DNA binding	http://purl.obolibrary.org/obo/GO_0043565		
MONDO:0006044	biolink:Disease	nephrosclerosis	Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia.	UMLS:C0027719|MESH:D009400|SCTID:32916005|ICD9:587|EFO:1000041|DOID:11664|GARD:0007179	mondo.json	renal sclerosis	http://purl.obolibrary.org/obo/MONDO_0006044	UMLS:C0027719|http://identifiers.org/mesh/D009400|http://identifiers.org/snomedct/32916005|DOID:11664	gard_rare
MONDO:0006045	biolink:Disease	ovarian clear cell adenocarcinoma	A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia.	DOID:5304|UMLS:C1518693|Orphanet:398971|EFO:1000042|UMLS:CN205034|NCIT:C40078|SCTID:763131005	mondo.json	ovary clear cell adenocarcinoma|clear cell adenocarcinoma of the ovary|clear cell adenocarcinoma of ovary|ovarian clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006045	NCIT:C40078|http://identifiers.org/snomedct/763131005|DOID:5304|UMLS:CN205034|Orphanet:398971|UMLS:C1518693	ordo_disease
MONDO:0006042	biolink:Disease	meningeal tuberculosis	A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis.	GARD:0007828|Orphanet:499004|MESH:D014390|SCTID:58437007|NCIT:C84888|UMLS:C0041318|EFO:1000039	mondo.json	tubercular meningitis|tuberculous meningitis|TB meningitis|TBM	http://purl.obolibrary.org/obo/MONDO_0006042	http://identifiers.org/mesh/D014390|UMLS:C0041318|Orphanet:499004|http://identifiers.org/snomedct/58437007|NCIT:C84888	ordo_disease
MONDO:0006043	biolink:Disease	metaplastic breast carcinoma	A group of invasive breast carcinomas characterized by the presence of an adenocarcinomatous component which is admixed with a dominant component that is composed of squamous cells, spindle cells, or mesenchymal cells.	NCIT:C5164|SCTID:763479005|ICD10CM:C50.6|ICD10CM:C50.3|ICD10CM:C50.2|Orphanet:213531|EFO:1000040|UMLS:C1334708|GARD:0010804|DOID:4680|ONCOTREE:MBC	mondo.json	metaplastic carcinoma of the breast|metaplastic breast carcinoma|metaplastic breast cancer|metaplastic carcinoma of breast|breast metaplastic carcinoma	http://purl.obolibrary.org/obo/MONDO_0006043	UMLS:C1334708|Orphanet:213531|DOID:4680|http://identifiers.org/snomedct/763479005|NCIT:C5164	ordo_disease
UBERON:4100000	biolink:AnatomicalEntity	skeletal element projection			mondo.json		http://purl.obolibrary.org/obo/UBERON_4100000		
MONDO:0006040	biolink:Disease	lactic acidosis	Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia.	SCTID:91273001|MESH:D000140|UMLS:C0001125	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006040	UMLS:C0001125|http://identifiers.org/mesh/D000140|http://identifiers.org/snomedct/91273001	
MONDO:0006041	biolink:Disease	lung carcinoid tumor	A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis.	EFO:1000037|ONCOTREE:LUCA|UMLS:C0280089|SCTID:254627002|NCIT:C4038	mondo.json	pulmonary carcinoid tumor|lung carcinoid tumor (disease)|lung carcinoid tumor|lung carcinoid|carcinoid tumor of lung|carcinoid tumor of the lung|carcinoid tumor (disease) of lung	http://purl.obolibrary.org/obo/MONDO_0006041	UMLS:C0280089|NCIT:C4038|http://identifiers.org/snomedct/254627002	
MONDO:0018019	biolink:Disease	lead poisoning	5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs.	ICD9:984.8|ICD9:984.9|MESH:D007855|Orphanet:330015|SCTID:38342005	mondo.json	saturnism|Lead intoxication|plumbism	http://purl.obolibrary.org/obo/MONDO_0018019	http://identifiers.org/snomedct/38342005|Orphanet:330015|http://identifiers.org/mesh/D007855	ordo_disease
HGNC:18308	biolink:NamedThing	TMLHE			mondo.json		http://identifiers.org/hgnc/18308		
MONDO:0018018	biolink:Disease	wild type ATTR amyloidosis		UMLS:C0342623|ICD9:277.39|SCTID:237877004|Orphanet:330001|UMLS:CN204235	mondo.json	Senile systemic amyloidosis|wild type ATTR-related amyloidosis|ATTRwt amyloidosis|ATTRwt-related amyloidosis|SSA	http://purl.obolibrary.org/obo/MONDO_0018018	UMLS:CN204235|http://identifiers.org/snomedct/237877004|Orphanet:330001|UMLS:C0342623	ordo_disease
MONDO:0021656	biolink:Disease	nongerminomatous germ cell tumor	A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors.	NCIT:C121619|GARD:0010165|ONCOTREE:NSGCT	mondo.json	Nongerminomatous germ cell tumor Including central nervous system|Nongerminomatous germ cell tumor|non-dysgerminomatous germ cell tumor|non-germinomatous germ cell tumor|non-seminomatous germ cell tumor|NSGCT	http://purl.obolibrary.org/obo/MONDO_0021656	NCIT:C121619	
MONDO:0018015	biolink:Disease	intermittent hydrarthrosis		UMLS:C0149910|ICD10CM:M12.4|SCTID:711286009|Orphanet:329967	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018015	http://identifiers.org/snomedct/711286009|UMLS:C0149910|http://purl.bioontology.org/ontology/ICD10CM/M12.4|Orphanet:329967	ordo_disease
MONDO:0021657	biolink:Disease	ovarian sex cord-stromal tumor	A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor.	DOID:0080369|NCIT:C4862|EFO:1000430|ONCOTREE:SCST|GARD:0012285|UMLS:C0600113	mondo.json	sex cord-stromal tumor of ovary|Sex cord-stromal neoplasm of the ovary|ovarian Sex cord-stromal tumor|Sex cord-stromal neoplasm of ovary|Sex cord-stromal tumor of the ovary|Sex cord-stromal tumor of ovary|sex cord stromal tumor|ovarian Sex cord-stromal neoplasm|ovarian sex cord tumor with annular tubules|ovary sex cord-stromal tumor	http://purl.obolibrary.org/obo/MONDO_0021657	DOID:0080369|UMLS:C0600113|NCIT:C4862	
MONDO:0018014	biolink:Disease	transient neonatal multiple acyl-CoA dehydrogenase deficiency	Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.	UMLS:CN204228|Orphanet:329942|SCTID:723552005	mondo.json	transient neonatal glutaric acidemia type 2|transient neonatal glutaric aciduria type 2|transient neonatal MAD deficiency|transient neonatal MADD	http://purl.obolibrary.org/obo/MONDO_0018014	UMLS:CN204228|http://identifiers.org/snomedct/723552005|Orphanet:329942	ordo_disease
HGNC:18305	biolink:NamedThing	ATP6AP2			mondo.json		http://identifiers.org/hgnc/18305		
MONDO:0018017	biolink:Disease	goblet cell carcinoma	An aggressive type of endocrine tumor of the appendix presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis.	Orphanet:329984|ICDO:8243/3|EFO:1000090|NCIT:C3689|GARD:0010414|ONCOTREE:GCCAP	mondo.json	appendix goblet cell carcinoid|goblet cell carcinoid of appendix|goblet cell carcinoid of the appendix|mucinous carcinoid tumor|mucinous carcinoid|goblet cell adenocarcinoid|carcinoma of goblet cell|goblet cell carcinoma|appendix goblet cell carcinoid tumor|goblet cell tumor|appendix mixed carcinoid-adenocarcinoma|GCC|appendix adenocarcinoid tumor|goblet cell carcinoid tumor|goblet cell carcinoid	http://purl.obolibrary.org/obo/MONDO_0018017	NCIT:C3689|Orphanet:329984	ordo_clinical_subtype
MONDO:0021658	biolink:Disease	vascular ectasia		NCIT:C45481|UMLS:C0002959	mondo.json	vascular ectasia	http://purl.obolibrary.org/obo/MONDO_0021658	UMLS:C0002959|NCIT:C45481	
MONDO:0018016	biolink:Disease	classic neuroendocrine tumor of appendix	Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated.	UMLS:CN204231|Orphanet:329977	mondo.json	classic appendix neuroendocrine tumor|classic appendiceal neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0018016	UMLS:CN204231|Orphanet:329977	ordo_clinical_subtype
MONDO:0021659	biolink:Disease	combined carcinoid and adenocarcinoma	A malignant epithelial neoplasm composed of a mixture of neuroendocrine cells with morphologic and immunohistochemical characteristics of carcinoid tumor and malignant glandular cells.	NCIT:C4139|MESH:C538230|UMLS:C0334302|GARD:0005741|ICDO:8245/3|ICDO:8244/3	mondo.json	mixed carcinoid tumor|composite carcinoid|composite carcinoid tumor|combined carcinoid tumor and adenocarcinoma|composite carcinoid neoplasm|combined carcinoid and adenocarcinoma|combined carcinoid neoplasm and adenocarcinoma|mixed carcinoid neoplasm|adenocarcinoid neoplasm|adenocarcinoid tumor	http://purl.obolibrary.org/obo/MONDO_0021659	http://identifiers.org/mesh/C538230|NCIT:C4139|UMLS:C0334302	gard_rare
MONDO:0033631	biolink:Disease	combined oxidative phosphorylation deficiency 51		OMIM:619057	mondo.json	COXPD51	http://purl.obolibrary.org/obo/MONDO_0033631	https://omim.org/entry/619057	
MONDO:0018011	biolink:Disease	juvenile overlap myositis	Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients.	Orphanet:329894|SCTID:766252004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018011	http://identifiers.org/snomedct/766252004|Orphanet:329894	ordo_disease
MONDO:0033630	biolink:Disease	neurodevelopmental disorder with speech impairment and dysmorphic facies		OMIM:619056	mondo.json	NEDSID	http://purl.obolibrary.org/obo/MONDO_0033630	https://omim.org/entry/619056	
MONDO:0018010	biolink:Disease	juvenile idiopathic inflammatory myopathy		Orphanet:329888	mondo.json	JIIM	http://purl.obolibrary.org/obo/MONDO_0018010	Orphanet:329888	ordo_group_of_disorders|disease_grouping
GO:0031594	biolink:NamedThing	neuromuscular junction	The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential.		mondo.json	NMJ|motor endplate	http://purl.obolibrary.org/obo/GO_0031594		
MONDO:0018013	biolink:Disease	non-immunoglobulin-mediated membranoproliferative glomerulonephritis		Orphanet:329918	mondo.json	non-immunoglobulin-mediated MPGN|C3 glomerulopathy|non-Ig-mediated MPGN|non-Ig-mediated membranoproliferative glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0018013	Orphanet:329918	ordo_clinical_subtype
MONDO:0018012	biolink:Disease	obsolete tetanus			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018012		
MONDO:0008719	biolink:Disease	acrorenal syndrome, autosomal recessive	Autosomal recessive form of acrorenal syndrome.	GARD:0000514|OMIM:201310|UMLS:C0796290|MESH:C535666	mondo.json	autosomal recessive acrorenal syndrome|Curran syndrome|acrorenal syndrome recessive|acrorenal syndrome, autosomal recessive|acrorenal syndrome autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0008719	UMLS:C0796290|https://omim.org/entry/201310|http://identifiers.org/mesh/C535666	
MONDO:0008718	biolink:Disease	Morvan syndrome	Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.	GARD:0009766|EFO:1001897|Orphanet:83467|UMLS:C0751540|SCTID:763803004	mondo.json	limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome|Morvan's fibrillary chorea	http://purl.obolibrary.org/obo/MONDO_0008718	http://identifiers.org/snomedct/763803004|UMLS:C0751540|Orphanet:83467	ordo_disease
MONDO:0008717	biolink:Disease	acromesomelic dysplasia 2C, Hunter-Thompson type	Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.	OMIM:201250|DOID:0080051|GARD:0000506|Orphanet:968	mondo.json	acromesomelic dysplasia 2C, Hunter-Thompson type|acromesomelic dwarfism|acromesomelic dysplasia Hunter Thompson type|acromesomelic dysplasia, Hunter-Thompson type|AMDH	http://purl.obolibrary.org/obo/MONDO_0008717	https://omim.org/entry/201250|DOID:0080051|Orphanet:968	ordo_malformation_syndrome
MONDO:0008716	biolink:Disease	acrogeria	A congenital skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet. Its onset is in early childhood; it progresses over the next few years and then remains stable. A bruising tendency has been observed.	SCTID:238872007|ICD9:259.8|GARD:0006543|Orphanet:2500|UMLS:C0238590|MESH:C538187|OMIM:201200|UMLS:C0406584	mondo.json	familial acrogeria|Gottron syndrome|acrometageria|acrogeria, Gottron type|Metageria	http://purl.obolibrary.org/obo/MONDO_0008716	UMLS:C0238590|http://identifiers.org/mesh/C538187|https://omim.org/entry/201200|Orphanet:2500|UMLS:C0406584|http://identifiers.org/snomedct/238872007	ordo_malformation_syndrome
MONDO:0008715	biolink:Disease	acrofrontofacionasal dysostosis	A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.	DOID:0060226|UMLS:C1860118|Orphanet:1784|GARD:0000484|SCTID:720408003	mondo.json	acrofrontofacionasal dysostosis type 1|cleft Lip/palate with frontonasal dysostosis and postaxial polysyndactyly|acrofrontofacionasal dysostosis 1|Richieri-Costa-Colletto syndrome|polysyndactyly, postaxial, frontonasal dysostosis and cleft lip/palate|polysyndactyly, postaxial, frontonasal dysostosis, and cleft Lip/palate|acrofrontofacionasal dysostosis syndrome|AFFN dysostosis|Affn dysostosis 1|acro fronto facio nasal dysostosis	http://purl.obolibrary.org/obo/MONDO_0008715	http://identifiers.org/snomedct/720408003|UMLS:C1860118|Orphanet:1784|DOID:0060226	ordo_malformation_syndrome
MONDO:0008714	biolink:Disease	acrofacial dysostosis Rodriguez type	Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.	UMLS:C1860119|OMIM:201170|SCTID:720430002|MESH:C538183|GARD:0000496|Orphanet:1788|DOID:0060383	mondo.json	Rodriguez lethal acrofacial dysostosis syndrome|acrofacial dysostosis, Rodríguez type|acrofacial dysostosis, syndrome of Rodriguez|acrofacial dysostosis syndrome of Rodriguez	http://purl.obolibrary.org/obo/MONDO_0008714	http://identifiers.org/snomedct/720430002|http://identifiers.org/mesh/C538183|https://omim.org/entry/201170|UMLS:C1860119|Orphanet:1788|DOID:0060383	ordo_malformation_syndrome|gard_rare
MONDO:0008713	biolink:Disease	acrodermatitis enteropathica	Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.	OMIM:201100|ICD9:686.8|GARD:0006343|MESH:C538178|NCIT:C128802|UMLS:C0221036|DOID:0050605|SCTID:37702000|GARD:0005723|Orphanet:37	mondo.json	AEZ|acrodermatitis enteropathica, zinc deficiency type|Danbolt-Cross syndrome|acrodermatitis enteropathica zinc deficiency type|acrodermatitis enteropathica|ae|Brandt syndrome|acrodermatitis enteropathica, zinc-deficiency type|inherited zinc deficiency|enteropathica	http://purl.obolibrary.org/obo/MONDO_0008713	Orphanet:37|http://identifiers.org/mesh/C538178|https://omim.org/entry/201100|http://identifiers.org/snomedct/37702000|DOID:0050605|UMLS:C0221036|NCIT:C128802	ordo_disease|gard_rare
NCBITaxon:7524	biolink:OrganismalEntity	Hemiptera		GC_ID:1|PMID:7666451	mondo.json	bugs	http://purl.obolibrary.org/obo/NCBITaxon_7524		
MONDO:0008712	biolink:Disease	acrocraniofacial dysostosis	Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.	GARD:0003075|Orphanet:949|UMLS:C1860145|SCTID:720418008|OMIM:201050|MESH:C536892	mondo.json	acrocraniofacial dysostosis|Kaplan-Plauchu-Fitch syndrome|Kaplan Plauchu Fitch syndrome	http://purl.obolibrary.org/obo/MONDO_0008712	https://omim.org/entry/201050|UMLS:C1860145|http://identifiers.org/snomedct/720418008|http://identifiers.org/mesh/C536892|Orphanet:949	ordo_malformation_syndrome
MONDO:0008711	biolink:Disease	Goodman syndrome	Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome.	MESH:C537287|GARD:0002549|SCTID:720600004|OMIM:201020|Orphanet:65798	mondo.json	ACPS 4|acrocephalopolysyndactyly type 4|acrocephalopolysyndactyly type IV|Goodman syndrome|ACPS4|Goodman camptodactyly	http://purl.obolibrary.org/obo/MONDO_0008711	Orphanet:65798|http://identifiers.org/snomedct/720600004|https://omim.org/entry/201020|http://identifiers.org/mesh/C537287	ordo_malformation_syndrome|gard_rare
CHR:9606-chr4q2	biolink:NamedThing	4q2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr4q2		
MONDO:0008710	biolink:Disease	RAB23-related Carpenter syndrome	Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene.	SCTID:205813009|OMIM:201000	mondo.json	Carpenter syndrome|acrocephalopolysyndactyly type 2|Carpenter syndrome type 1|CRPT1|RAB23-related Carpenter syndrome|Carpenter syndrome caused by mutation in RAB23|CARPENTER syndrome 1|RAB23 Carpenter syndrome|Carpenter syndrome 1|ACPS 2	http://purl.obolibrary.org/obo/MONDO_0008710	https://omim.org/entry/201000|http://identifiers.org/snomedct/205813009	
HP:0025015	biolink:PhenotypicFeature	Abnormal vascular morphology			mondo.json		http://purl.obolibrary.org/obo/HP_0025015		
UBERON:0005352	biolink:AnatomicalEntity	spermatic cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005352		
CHEBI:32784	biolink:ChemicalSubstance	tyrosinate(1-)	An alpha-amino-acid anion that is the conjugate base of tyrosine, arising from deprotonation of the carboxy group.		mondo.json	hydrogen tyrosinate|tyrosine anion|tyrosinate(1-)|2-amino-3-(4-hydroxyphenyl)propanoate	http://purl.obolibrary.org/obo/CHEBI_32784		
CHEBI:32785	biolink:ChemicalSubstance	tyrosinate(2-)			mondo.json	tyrosinate|2-amino-3-(4-oxidophenyl)propanoate|tyrosinate(2-)|tyrosine dianion	http://purl.obolibrary.org/obo/CHEBI_32785		
CHEBI:32786	biolink:ChemicalSubstance	tyrosinium	An alpha-amino-acid cation that is the conjugate acid of tyrosine, arising from protonation of the amino group.		mondo.json	tyrosinium|1-carboxy-2-(4-hydroxyphenyl)ethanaminium|tyrosine cation	http://purl.obolibrary.org/obo/CHEBI_32786		
HGNC:3767	biolink:NamedThing	FLT4			mondo.json		http://identifiers.org/hgnc/3767		
HGNC:3765	biolink:NamedThing	FLT3			mondo.json		http://identifiers.org/hgnc/3765		
UBERON:0005359	biolink:AnatomicalEntity	spinal cord ependyma			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005359		
UBERON:0005358	biolink:AnatomicalEntity	ventricle of nervous system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005358		
HGNC:1100	biolink:NamedThing	BRCA1			mondo.json		http://identifiers.org/hgnc/1100		
HGNC:3762	biolink:NamedThing	FLRT3			mondo.json		http://identifiers.org/hgnc/3762		
HGNC:1101	biolink:NamedThing	BRCA2			mondo.json		http://identifiers.org/hgnc/1101		
UBERON:0005357	biolink:AnatomicalEntity	brain ependyma			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005357		
UBERON:0005356	biolink:AnatomicalEntity	Rathke's pouch			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005356		
MONDO:0008709	biolink:Disease	acrocephalopolydactyly	Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.	UMLS:C1860157|SCTID:720417003|UMLS:C3495588|GARD:0002096|OMIM:200995|MESH:C573722|UMLS:CN201238|Orphanet:221054|GARD:0000486	mondo.json	Elejalde syndrome|acrocephalopolydactylous dysplasia	http://purl.obolibrary.org/obo/MONDO_0008709	http://identifiers.org/snomedct/720417003|Orphanet:221054|http://identifiers.org/mesh/C573722|UMLS:CN201238|UMLS:C3495588|https://omim.org/entry/200995	gard_rare|ordo_malformation_syndrome
MONDO:0008729	biolink:Disease	congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.	ICD9:277.6|SCTID:124214007|MESH:C535978|NCIT:C131085|MedDRA:10000002|Orphanet:90795|GARD:0005658|OMIM:202010|UMLS:C0268292	mondo.json	adrenal hyperplasia hypertensive form|CYP11B1 deficiency|adrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiency|adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency|adrenal hyperplasia 4|P450C11B1 deficiency|adrenal hyperplasia, hypertensive form|steroid 11-Beta-Hydroxylase deficiency|adrenal hyperplasia IV|CAH due to 11-beta-hydroxylase deficiency|11-Beta-Hydroxylase deficiency	http://purl.obolibrary.org/obo/MONDO_0008729	https://omim.org/entry/202010|http://identifiers.org/snomedct/124214007|UMLS:C0268292|Orphanet:90795|NCIT:C131085|http://identifiers.org/mesh/C535978	ordo_disease
MONDO:0008728	biolink:Disease	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.	SCTID:124221007|SCTID:717261006|MESH:C535979|Orphanet:90794|NCIT:C131087|GARD:0012665|GARD:0005757|UMLS:C4273964|OMIM:201910	mondo.json	21 hydroxylase deficiency|adrenal hyperplasia 3|adrenal hyperplasia, congenital, due to 21-HYDROXYLASE deficiency|21-OHD|congenital adrenal hyperplasia due to 21-hydroxylase deficiency|hyperandrogenism, Nonclassic type, due to 21-Hydroxylase deficiency|classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency|CYP21 deficiency|classic 21-OHD CAH|21-hydroxylase deficiency|adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency|congenital adrenal hyperplasia 1	http://purl.obolibrary.org/obo/MONDO_0008728	http://identifiers.org/snomedct/717261006|Orphanet:90794|UMLS:C4273964|https://omim.org/entry/201910|NCIT:C131087|http://identifiers.org/snomedct/124221007|http://identifiers.org/mesh/C535979	gard_rare|ordo_disease
MONDO:0008727	biolink:Disease	congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.	OMIM:201810|NCIT:C131088|Orphanet:90791|GARD:0009152|SCTID:54470008|MESH:C538236	mondo.json	type II 3-beta-hydroxysteroid dehydrogenase deficiency|3-BETA-hydroxysteroid dehydrogenase, type II, deficiency OF|CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency|adrenal hyperplasia 2|HSD3B deficiency|3b-hydroxysteroid dehydrogenase deficiency|3-Beta-HSD deficiency|adrenal hyperplasia II|adrenal hyperplasia, congenital, due to 3-BETA-hydroxysteroid dehydrogenase 2 deficiency|adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrogenase 2 deficiency|3-beta HSD deficiency|3-Beta-hydroxysteroid dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0008727	http://identifiers.org/mesh/C538236|https://omim.org/entry/201810|Orphanet:90791|NCIT:C131088|http://identifiers.org/snomedct/54470008	ordo_disease
MONDO:0008726	biolink:Disease	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		Orphanet:63269|UMLS:C3150099|OMIM:201750	mondo.json	ABS1|Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis|Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis	http://purl.obolibrary.org/obo/MONDO_0008726	Orphanet:63269|https://omim.org/entry/201750|UMLS:C3150099	
MONDO:0008725	biolink:Disease	congenital lipoid adrenal hyperplasia due to STAR deficency	Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.	OMIM:201710|Orphanet:90790|UMLS:C0342474|GARD:0001465|SCTID:44231009	mondo.json	adrenal hyperplasia 1|congenital adrenal hyperplasia lipoid|lipoid hyperplasia, congenital, of adrenal cortex with Male pseudohermaphroditism|lipoid adrenal hyperplasia|CLAH|lipoid congenital adrenal hyperplasia|LCAH	http://purl.obolibrary.org/obo/MONDO_0008725	https://omim.org/entry/201710|http://identifiers.org/snomedct/44231009|Orphanet:90790|UMLS:C0342474	ordo_disease
MONDO:0008724	biolink:Disease	adducted thumbs-arthrogryposis syndrome, Christian type	A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ("myopathic" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983.	OMIM:201550|Orphanet:2952	mondo.json	adducted thumbs syndrome	http://purl.obolibrary.org/obo/MONDO_0008724	https://omim.org/entry/201550|Orphanet:2952	ordo_malformation_syndrome
MONDO:0008723	biolink:Disease	very long chain acyl-CoA dehydrogenase deficiency	An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.	UMLS:C0342784|ICD10CM:E71.310|GARD:0005508|SCTID:237997005|OMIM:201475|UMLS:C3887523|DOID:0080155|Orphanet:26793|NCIT:C98647	mondo.json	very long-chain acyl-CoA dehydrogenase deficiency|acyl-CoA dehydrogenase, very long-chain, deficiency OF|acyl-CoA dehydrogenase, very long-chain deficiency|ACADVLD|very long chain acyl-CoA dehydrogenase deficiency|VLCAD deficiency|VLCAD|very long-chain acyl-Coenzyme A dehydrogenase deficiency|VLCADD	http://purl.obolibrary.org/obo/MONDO_0008723	https://omim.org/entry/201475|DOID:0080155|UMLS:C3887523|Orphanet:26793|NCIT:C98647|http://identifiers.org/snomedct/237997005|http://purl.bioontology.org/ontology/ICD10CM/E71.310	clingen|ordo_disease
MONDO:0008722	biolink:Disease	short chain acyl-CoA dehydrogenase deficiency	Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.	Orphanet:26792|GARD:0004822|NCIT:C84539|DOID:0080154|OMIM:201470|MESH:C537596|ICD10CM:E71.312	mondo.json	Acads deficiency|ACADS deficiency|SCADD|acyl-CoA dehydrogenase, short-chain, deficiency OF|SCAD|short-chain acyl-CoA dehydrogenase deficiency|Scad deficiency|short-chain acyl-CoA dehydrogenase deficiency (SCAD)|Scadh deficiency|SCAD deficiency|ACADSD|short-chain acyl-coenzyme A dehydrogenase deficiency|short-chain acyl-Coenzyme A dehydrogenase deficiency (SCAD)|lipid-storage myopathy secondary to short-chain acyl-Coa dehydrogenase deficiency|acyl-CoA dehydrogenase, short-chain deficiency|short chain acyl-CoA dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0008722	DOID:0080154|https://omim.org/entry/201470|http://identifiers.org/mesh/C537596|Orphanet:26792|http://purl.bioontology.org/ontology/ICD10CM/E71.312|NCIT:C84539	clingen|ordo_disease|gard_rare
MONDO:0008721	biolink:Disease	medium chain acyl-CoA dehydrogenase deficiency	Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.	NCIT:C84538|OMIM:201450|GARD:0000540|DOID:0080153|MESH:C536038|ICD9:277.85|UMLS:C0220710|Orphanet:42|ICD10CM:E71.311|SCTID:128596003	mondo.json	MCADD|medium-chain acyl-Coenzyme A dehydrogenase deficiency|Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency|Mcadh deficiency|acyl-CoA dehydrogenase, medium-chain, deficiency OF|ACADMD|medium chain acyl-CoA dehydrogenase deficiency|medium-chain acyl-CoA dehydrogenase deficiency|ACADM deficiency|acyl-CoA dehydrogenase medium chain deficiency of|MCAD deficiency|medium chain acyl-coenzyme A dehydrogenase deficiency|medium chain acyl CoA dehydrogenase deficiency|Acyl-CoA dehydrogenase, medium chain, deficiency of|Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency|acyl-CoA dehydrogenase, medium-chain deficiency|MCAD	http://purl.obolibrary.org/obo/MONDO_0008721	https://omim.org/entry/201450|DOID:0080153|http://identifiers.org/mesh/C536038|http://identifiers.org/snomedct/128596003|UMLS:C0220710|http://purl.bioontology.org/ontology/ICD10CM/E71.311|Orphanet:42|NCIT:C84538	clingen|ordo_disease
MONDO:0008720	biolink:Disease	congenital isolated adrenocorticotropic hormone deficiency	A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.	GARD:0005727|HP:0011748|Orphanet:199296|OMIM:201400|MESH:C535668|DOID:0080150|ICD9:255.41|EFO:1001979|UMLS:C0342388|SCTID:237692001	mondo.json	congenital isolated ACTH deficiency|isolated ACTH deficiency|ACTH deficiency, isolated|congenital isolated adrenocorticotropic hormone deficiency (disease)|isolated adrenocorticotropic hormone deficiency|IAD|adrenocorticotropic hormone deficiency	http://purl.obolibrary.org/obo/MONDO_0008720	DOID:0080150|https://omim.org/entry/201400|http://identifiers.org/snomedct/237692001|UMLS:C0342388|http://identifiers.org/mesh/C535668|Orphanet:199296	ordo_disease
UBERON:0005343	biolink:AnatomicalEntity	cortical plate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005343		
CHR:9606-chr13q12	biolink:NamedThing	13q12 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr13q12		
UBERON:0005340	biolink:AnatomicalEntity	dorsal telencephalic commissure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005340		
CHR:9606-chr13q14	biolink:NamedThing	13q14 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr13q14		
HGNC:3778	biolink:NamedThing	FN1			mondo.json		http://identifiers.org/hgnc/3778		
CHEBI:17137	biolink:ChemicalSubstance	hydrogensulfite			mondo.json	[SO2(OH)](-)|hydrosulfite anion|hydrogensulfite(1-)|bisulfite|Bisulfite|hydroxidodioxidosulfate(1-)|hydrogentrioxosulfate(1-)|HSO3(-)|hydrogen(trioxidosulfate)(1-)|hydrogentrioxosulfate(IV)|hydrogen sulfite(1-)|bisulphite|HSO3-|Hydrogen sulfite|monohydrogentrioxosulfate	http://purl.obolibrary.org/obo/CHEBI_17137		
HGNC:3776	biolink:NamedThing	AFF2			mondo.json		http://identifiers.org/hgnc/3776		
HGNC:3775	biolink:NamedThing	FMR1			mondo.json		http://identifiers.org/hgnc/3775		
HP:0001051	biolink:PhenotypicFeature	Seborrheic dermatitis	Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.	UMLS:C0036508|SNOMEDCT_US:50563003|UMLS:C3806554|SNOMEDCT_US:86708008|MSH:D012628	mondo.json	Seborrheic eczema|Seborrhea|Dysseborrheic dermatitis	http://purl.obolibrary.org/obo/HP_0001051		
UBERON:0005344	biolink:AnatomicalEntity	peritoneal vaginal process			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005344		
HGNC:3771	biolink:NamedThing	FMO3			mondo.json		http://identifiers.org/hgnc/3771		
NCBITaxon:7509	biolink:OrganismalEntity	Siphonaptera		GC_ID:1	mondo.json	fleas|fleas	http://purl.obolibrary.org/obo/NCBITaxon_7509		
UBERON:0005332	biolink:AnatomicalEntity	mesonephric S-shaped body			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005332		
HP:0001025	biolink:PhenotypicFeature	Urticaria	Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.	SNOMEDCT_US:64305001|MEDDRA:10046735|MSH:D014581|UMLS:C0042109|SNOMEDCT_US:247472004|SNOMEDCT_US:126485001	mondo.json	Hives	http://purl.obolibrary.org/obo/HP_0001025		hposlim_core
UBERON:0005331	biolink:AnatomicalEntity	mesonephric renal vesicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005331		
HP:0001022	biolink:PhenotypicFeature	Albinism	An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).	MSH:D000417|UMLS:C0001916|UMLS:C0333913|SNOMEDCT_US:18064000|SNOMEDCT_US:15890002	mondo.json	Achromasia|Albinism	http://purl.obolibrary.org/obo/HP_0001022		
UBERON:0007997	biolink:AnatomicalEntity	sesamoid bone of manus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007997		
CHEBI:32760	biolink:ChemicalSubstance	L-tyrosinate(1-)	An optically active form of tyrosinate having L-configuration.		mondo.json	hydrogen L-tyrosinate|L-tyrosine anion|L-tyrosine monoanion|(2S)-2-amino-3-(4-hydroxyphenyl)propanoate|L-tyrosinate(1-)	http://purl.obolibrary.org/obo/CHEBI_32760		
UBERON:0005330	biolink:AnatomicalEntity	mesonephric nephron epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005330		
CHEBI:32761	biolink:ChemicalSubstance	L-tyrosinate(2-)	The L-enantiomer of tyrosinate(2-).		mondo.json	L-tyrosinate|(2S)-2-amino-3-(4-oxidophenyl)propanoate|L-tyrosinate(2-)|L-tyrosine dianion	http://purl.obolibrary.org/obo/CHEBI_32761		
CHEBI:32762	biolink:ChemicalSubstance	L-tyrosinium	An optically active form of tyrosinium having L-configuration.		mondo.json	L-tyrosine cation|L-tyrosinium|(1S)-1-carboxy-2-(4-hydroxyphenyl)ethanaminium	http://purl.obolibrary.org/obo/CHEBI_32762		
NCBITaxon:7511	biolink:OrganismalEntity	Pulicidae		GC_ID:1	mondo.json	common fleas	http://purl.obolibrary.org/obo/NCBITaxon_7511		
CHEBI:30102	biolink:ChemicalSubstance	diazynium			mondo.json	diazynium|HN2+|N#NH(+)	http://purl.obolibrary.org/obo/CHEBI_30102		
UBERON:0005339	biolink:AnatomicalEntity	outflow tract pulmonary component			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005339		
UBERON:0005338	biolink:AnatomicalEntity	outflow tract aortic component			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005338		
UBERON:0005337	biolink:AnatomicalEntity	outflow tract of ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005337		
HGNC:1122	biolink:NamedThing	BTD			mondo.json		http://identifiers.org/hgnc/1122		
UBERON:0005334	biolink:AnatomicalEntity	oral lamina propria			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005334		
UBERON:0005333	biolink:AnatomicalEntity	mammary bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005333		
MONDO:0008708	biolink:Disease	acrocallosal syndrome	Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.	GARD:0005721|SCTID:715951007|MESH:D055673|Orphanet:36|UMLS:C0796147|OMIM:200990|DOID:9250|NCIT:C84531	mondo.json	Joubert syndrome 12|acrocallosal syndrome|hallux Duplication, postaxial polydactyly, and absence of corpus callosum|Schinzel syndrome 1|Joubert syndrome 12/15, digenic|acrocallosal syndrome, Schinzel type|Schinzel acrocallosal syndrome|absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly|ACLS|ACS	http://purl.obolibrary.org/obo/MONDO_0008708	http://identifiers.org/snomedct/715951007|DOID:9250|Orphanet:36|NCIT:C84531|UMLS:C0796147|http://identifiers.org/mesh/D055673|https://omim.org/entry/200990	ordo_malformation_syndrome
MONDO:0008707	biolink:Disease	acro-renal-mandibular syndrome	Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.	Orphanet:958|GARD:0000480|UMLS:C1860166|SCTID:720414005|OMIM:200980|MESH:C535665	mondo.json	acrorenal-uterine-mandibular syndrome|acrorenal mandibular syndrome|split hand split foot mandibular hypoplasia|acro-renal-uterine-mandibular syndrome|acrorenal-mandibular syndrome|split-hand and split-foot with mandibular hypoplasia|split hand/split foot-mandibular hypoplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0008707	http://identifiers.org/mesh/C535665|http://identifiers.org/snomedct/720414005|UMLS:C1860166|https://omim.org/entry/200980|Orphanet:958	ordo_malformation_syndrome
MONDO:0008706	biolink:Disease	Ackerman syndrome	Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers.	SCTID:722280000|UMLS:C1860167|Orphanet:2561|GARD:0000469|OMIM:200970|MESH:C538170	mondo.json	pyramidal molar-glaucoma-upper abnormal lip syndrome|molar roots, pyramidal, with juvenile glaucoma and unusual upper lip|Ackerman fused molar rooth syndrome|juvenile glaucoma with unusual upper lip and dental roots|Ackerman syndrome|pyramidal molars, glaucoma, abnormal upper lip|glaucoma, juvenile, with unusual upper lip and dental roots	http://purl.obolibrary.org/obo/MONDO_0008706	http://identifiers.org/snomedct/722280000|http://identifiers.org/mesh/C538170|Orphanet:2561|UMLS:C1860167|https://omim.org/entry/200970	gard_rare|ordo_malformation_syndrome
MONDO:0008705	biolink:Disease	lysosomal acid phosphatase deficiency		Orphanet:35121|SCTID:57863006|ICD10CM:E83.3|MESH:C562645|OMIM:200950|ICD9:277.6|UMLS:C0268410	mondo.json	lysosomal acid phosphatase deficiency|acid phosphatase deficiency	http://purl.obolibrary.org/obo/MONDO_0008705	Orphanet:35121|http://identifiers.org/snomedct/57863006|http://identifiers.org/mesh/C562645|UMLS:C0268410|https://omim.org/entry/200950	ordo_disease
MONDO:0008704	biolink:Disease	short-limb skeletal dysplasia with severe combined immunodeficiency	Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.	GARD:0002988|UMLS:C1860168|MESH:C565984|OMIM:200900|Orphanet:935|GARD:0000463	mondo.json	agammaglobulinemia and achondroplasia|achondroplasia-severe combined immunodeficiency syndrome|achondroplasia and Swiss-type agammaglobulinemia|achondroplasia, so-called, and severe combined immunodeficiency|achondroplasia and Swiss type agammaglobulinemia|immunodeficiency-short limb dwarfism syndrome|short limb skeletal dysplasia with SCID|achondroplasia-SCID syndrome|SLSD with SCID|achondroplasia so-called and severe combined immunodeficiency|achondroplasia-Swiss type agammaglobulinemia syndrome|achondroplasia and severe combined immunodeficiency|short-limb skeletal dysplasia with severe combined immunodeficiency|Slsd with SCID	http://purl.obolibrary.org/obo/MONDO_0008704	UMLS:C1860168|https://omim.org/entry/200900|Orphanet:935|http://identifiers.org/mesh/C565984	gard_rare|ordo_disease
MONDO:0008703	biolink:Disease	acromesomelic dysplasia 2A	An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.	DOID:0080052|UMLS:C0265260|OMIM:200700|OMIM:609441|GARD:0001300|Orphanet:2098|NCIT:C3816	mondo.json	GREBE chondrodysplasia|achondrogenesis, Brazilian|achondrogenesis type II (formerly)|achondrogenesis, type II, formerly|AMDG|achondrogenesis, type II|Grebe dysplasia|hypochondrogenesis|acromesomelic dysplasia 2A|acromesomelic dysplasia, Grebe type|type II achondrogenesis|chondrodysplasia, Grebe type|Grebe chondrodysplasia|Brazilian achondrogenesis|Grebe syndrome|Langer-Saldino achondrogenesis	http://purl.obolibrary.org/obo/MONDO_0008703	Orphanet:2098|NCIT:C3816|DOID:0080052|UMLS:C0265260|https://omim.org/entry/200700	ordo_malformation_syndrome
MONDO:0008702	biolink:Disease	achondrogenesis type II	Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.	OMIM:200610|Orphanet:93297|Orphanet:93296|DOID:0080056|MESH:C536017|GARD:0008713	mondo.json	ACG2|achondrogenesis, type IB, formerly|achondrogenesis type II|achondrogenesis, type II|achondrogenesis, type II or hypochondrogenesis|achondrogenesis, type IB|chondrogenesis imperfecta|achondrogenesis, type 2|hypochondrogenesis|achondrogenesis, Langer-Saldino type|achondrogenesis type 2	http://purl.obolibrary.org/obo/MONDO_0008702	Orphanet:93296|DOID:0080056|http://identifiers.org/mesh/C536017|https://omim.org/entry/200610	ordo_clinical_subtype
MONDO:0008701	biolink:Disease	achondrogenesis type IA	Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.	OMIM:200600|GARD:0000459|Orphanet:93299|SCTID:42725006|ICD9:756.9|DOID:0080054|MESH:C536015	mondo.json	achondrogenesis, Houston-Harris type|achondrogenesis type 1A|achondrogenesis, type IA|achondrogenesis, type 1A|ACG1A|achondrogenesis Houston-Harris type|Houston-Harris achondrogenesis	http://purl.obolibrary.org/obo/MONDO_0008701	Orphanet:93299|DOID:0080054|http://identifiers.org/mesh/C536015|http://identifiers.org/snomedct/42725006|https://omim.org/entry/200600	ordo_clinical_subtype
UBERON:0005319	biolink:AnatomicalEntity	mesonephric collecting duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005319		
MONDO:0008700	biolink:Disease	acheiropody	Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.	DOID:0050603|Orphanet:931|GARD:0000376|SCTID:177504007|OMIM:200500|MESH:C536014	mondo.json	acheiropody|ACHP|horn-Kolb syndrome|acheiropody, Brazilian type|acheiropodia	http://purl.obolibrary.org/obo/MONDO_0008700	http://identifiers.org/mesh/C536014|https://omim.org/entry/200500|http://identifiers.org/snomedct/177504007|DOID:0050603|Orphanet:931	ordo_morphological_anomaly
CHR:9606-chr4p1	biolink:NamedThing	4p1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr4p1		
NCBITaxon:43786	biolink:OrganismalEntity	Culicomorpha		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_43786		
NCBITaxon:43787	biolink:OrganismalEntity	Psychodomorpha		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_43787		
UBERON:0005321	biolink:AnatomicalEntity	mesonephric smooth muscle tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005321		
HGNC:3791	biolink:NamedThing	FOLR1			mondo.json		http://identifiers.org/hgnc/3791		
CHEBI:32773	biolink:ChemicalSubstance	D-tyrosinate(1-)	An optically active form of tyrosinate(1-) having D-configuration.		mondo.json	D-tyrosine monoanion|D-tyrosinate(1-)|hydrogen D-tyrosinate|(2R)-2-amino-3-(4-hydroxyphenyl)propanoate	http://purl.obolibrary.org/obo/CHEBI_32773		
CHEBI:32774	biolink:ChemicalSubstance	D-tyrosinate(2-)	The D-enantiomer of tyrosinate(2-).		mondo.json	D-tyrosinate(2-)|D-tyrosine dianion|(2R)-2-amino-3-(4-oxidophenyl)propanoate|D-tyrosinate	http://purl.obolibrary.org/obo/CHEBI_32774		
CHEBI:32775	biolink:ChemicalSubstance	D-tyrosinium	An optically active form of tyrosinium having D-configuration.		mondo.json	(1R)-1-carboxy-2-(4-hydroxyphenyl)ethanaminium|D-tyrosine cation|D-tyrosinium	http://purl.obolibrary.org/obo/CHEBI_32775		
UBERON:0005328	biolink:AnatomicalEntity	mesonephric comma-shaped body			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005328		
UBERON:0005327	biolink:AnatomicalEntity	mesonephric glomerular epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005327		
UBERON:0005326	biolink:AnatomicalEntity	mesonephric glomerulus vasculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005326		
CL:4006000	biolink:Cell	fibroblast of breast	A fibroblast that is part of the breast.		mondo.json	breast fibroblast	http://purl.obolibrary.org/obo/CL_4006000		
HGNC:1133	biolink:NamedThing	BTK			mondo.json		http://identifiers.org/hgnc/1133		
UBERON:0005325	biolink:AnatomicalEntity	mesonephric glomerulus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005325		
CL:4006001	biolink:Cell	fibroblast of skin of scalp	A fibroblast that is part of the skin of scalp.		mondo.json	skin of scalp fibroblast	http://purl.obolibrary.org/obo/CL_4006001		
UBERON:0005323	biolink:AnatomicalEntity	mesonephric mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005323		
UBERON:0005322	biolink:AnatomicalEntity	mesonephric nephron			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005322		
MONDO:0008759	biolink:Disease	oxoglutaricaciduria	Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases.	OMIM:203740|UMLS:C2752074|GARD:0000617|SCTID:733630004|MESH:C536582|Orphanet:31	mondo.json	Oxoglutaric aciduria|Alpha KGD deficiency|2-ketoglutarate dehydrogenase deficiency|Alpha-ketoglutarate dehydrogenase deficiency|oxoglutarate dehydrogenase deficiency|2 alpha ketoglutarate dehydrogenase deficiency|Alpha-Kgd deficiency|ALPHA-ketoglutarate dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0008759	http://identifiers.org/snomedct/733630004|UMLS:C2752074|http://identifiers.org/mesh/C536582|Orphanet:31|https://omim.org/entry/203740	ordo_disease
MONDO:0008758	biolink:Disease	mitochondrial DNA depletion syndrome 4a	Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.	UMLS:C0205710|DOID:1442|SCTID:20415001|DOID:0080122|MedDRA:10062943|GARD:0005783|NCIT:C35257|Orphanet:726|OMIM:203700|ICD9:330.8	mondo.json	PNDC|Alpers-Huttenlocher syndrome|Alpers Huttenlocher syndrome|mitochondrial DNA depletion syndrome 4A (Alpers type)|Poliodystrophia cerebri progressiva|Alpers progressive infantile poliodystrophy|AHD|Alpers Huttenlocher disease|AHS|infantile poliodystrophy|progressive sclerosing poliodystrophy|diffuse cerebral degeneration in infancy|Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis|Alpers progressive sclerosing poliodystrophy|Alpers syndrome|Alper's syndrome|mitochondrial DNA depletion syndrome type 4a|Alpers' disease or gray-matter degeneration|MTDPS4A|progressive neuronal degeneration of childhood with liver disease|Alper syndrome|mitochondrial DNA depletion syndrome 4A|neuronal Degeneration of childhood with liver disease, progressive|Alpers disease|progressive cerebral poliodystrophy	http://purl.obolibrary.org/obo/MONDO_0008758	NCIT:C35257|http://identifiers.org/snomedct/20415001|DOID:0080122|Orphanet:726|UMLS:C0205710|https://omim.org/entry/203700	ordo_disease
MONDO:0008757	biolink:Disease	alopecia universalis congenita	The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.	SCTID:86166000|DOID:0050634|OMIM:104000|OMIM:203655|ICD9:704.09|UMLS:C0263505|MESH:C537055|Orphanet:701|MedDRA:10001767|GARD:0000614	mondo.json	alopecia universalis|alopecia areata universalis|ALUNC|alopecia universalis congenita|atrichia, generalized|AU	http://purl.obolibrary.org/obo/MONDO_0008757	http://identifiers.org/mesh/C537055|Orphanet:701|DOID:0050634|http://identifiers.org/snomedct/86166000|UMLS:C0263505|https://omim.org/entry/203655	ordo_disease
MONDO:0008756	biolink:Disease	alopecia - intellectual disability syndrome	An extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.	GARD:0000612|OMIMPS:203650|Orphanet:2850|DOID:0080627|SCTID:716191002	mondo.json	alopecia-intellectual disability syndrome|alopecia intellectual disbility syndrome 1|AMR syndrome 1|alopecia with severe intellectual deficit|alopecia-mental retardation syndrome|Perniola-Krajewska-Carnevale syndrome|Amr syndrome	http://purl.obolibrary.org/obo/MONDO_0008756	Orphanet:2850|DOID:0080627|http://identifiers.org/snomedct/716191002|https://omim.org/phenotypicSeries/PS203650	ordo_disease
MONDO:0008755	biolink:Disease	Moynahan syndrome		GARD:0000606|Orphanet:2574|MESH:C537052|OMIM:203600	mondo.json	alopecia-epilepsy-intellectual disability syndrome, Moynahan type|alopecia-epilepsy-oligophrenia syndrome of Moynahan|Moynahan alopecia syndrome|alopecia epilepsy oligophrenia syndrome of Moynahan	http://purl.obolibrary.org/obo/MONDO_0008755	Orphanet:2574|https://omim.org/entry/203600|http://identifiers.org/mesh/C537052	ordo_malformation_syndrome
MONDO:0008754	biolink:Disease	alopecia - contractures - dwarfism - intellectual disability syndrome	Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.	OMIM:203550|Orphanet:1005|UMLS:C0795895|GARD:0000605|MESH:C537051	mondo.json	ACD intellectual disability syndrome|ACD-intellectual disability syndrome|alopecia-contractures-dwarfism intellectual disability syndrome|alopecia-contractures-dwarfism mental retardation syndrome|ACD mental retardation syndrome	http://purl.obolibrary.org/obo/MONDO_0008754	UMLS:C0795895|https://omim.org/entry/203550|http://identifiers.org/mesh/C537051|Orphanet:1005	ordo_malformation_syndrome|gard_rare
MONDO:0008753	biolink:Disease	alkaptonuria	Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).	NCIT:C84546|DOID:9270|GARD:0005775|UMLS:C0002066|ICD9:270.2|SCTID:360378009|Orphanet:56|MESH:D000474|OMIM:203500|UMLS:C2931645|MedDRA:10001689	mondo.json	hereditary ochronosis|homogentisic acid oxidase deficiency|alkaptonuria|alcaptonuria|alkaptonuric ochronosis|aku|deficiency of homogentisicase|ochronosis, hereditary|homogentisic acidura|homogentisate 1,2-dioxygenase deficiency	http://purl.obolibrary.org/obo/MONDO_0008753	http://identifiers.org/mesh/D000474|http://identifiers.org/snomedct/360378009|DOID:9270|Orphanet:56|NCIT:C84546|UMLS:C2931645|https://omim.org/entry/203500|UMLS:C0002066	ordo_disease|gard_rare
NCBITaxon:41197	biolink:OrganismalEntity	Heteroneura		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_41197		
MONDO:0008752	biolink:Disease	Alexander disease	Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.	Orphanet:58|SCTID:81854007|GARD:0005774|NCIT:C84545|DOID:4252|OMIM:203450|UMLS:C0270726|MESH:D038261	mondo.json	Alexander's disease|megalencephaly in infancy accompanied by progressive spasticity and dementia|alexanders leukodystrophy|ALXDRD|Alexander disease|AxD	http://purl.obolibrary.org/obo/MONDO_0008752	UMLS:C0270726|DOID:4252|http://identifiers.org/snomedct/81854007|Orphanet:58|NCIT:C84545|https://omim.org/entry/203450|http://identifiers.org/mesh/D038261	gard_rare|ordo_disease
NCBITaxon:41196	biolink:OrganismalEntity	Neolepidoptera		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_41196		
MONDO:0008751	biolink:Disease	corticosterone methyloxidase type 1 deficiency		UMLS:CN074214|SCTID:47757001|OMIM:203400|DOID:0080626|GARD:0005660	mondo.json	corticosterone 18-monooxygenase deficiency|CMO 1 deficiency|corticosterone methyl oxidase type I deficiency|18-Hydroxylase deficiency|corticosterone methyloxidase type I deficiency|18 alpha hydroxylase deficiency|aldosterone deficiency due to defect in 18 hydroxylase|hyperreninemic hypoaldosteronism, familial, 1|aldosterone deficiency due to 18-hydroxylase defect|18 Hydroxylase deficiency|steroid 18-hydroxylase deficiency|CAH - 18-hydroxylase deficiency|CMO II deficiency|aldosterone deficiency due to defect in steroid 18-Hydroxylase|hypoaldosteronism, congenital, due to cmo i deficiency|CMO I deficiency|18-hydroxycorticosterone dehydrogenase deficiency|aldosterone deficiency 1|corticosterone methyloxidase type 1 deficiency|18-hydroxylase deficiency|aldosterone deficiency due to 18-hydroxysteroid dehydrogenase deficiency|corticosterone methyl oxidase type II deficiency	http://purl.obolibrary.org/obo/MONDO_0008751	http://identifiers.org/snomedct/47757001|DOID:0080626|https://omim.org/entry/203400|UMLS:CN074214	gard_rare
MONDO:0008750	biolink:Disease	microcephaly-albinism-digital anomalies syndrome	Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.	Orphanet:2513|SCTID:719377004|OMIM:203340|MESH:C537322|UMLS:C1859910|GARD:0003604	mondo.json	albinism-microcephaly-digital anomalies syndrome|Castro Gago-Pombo-Novo syndrome|albinism-microcephaly digital anomalies syndrome|microcephaly-albinism-digital anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0008750	http://identifiers.org/snomedct/719377004|https://omim.org/entry/203340|UMLS:C1859910|Orphanet:2513|http://identifiers.org/mesh/C537322	gard_rare|ordo_malformation_syndrome
NCBITaxon:41191	biolink:OrganismalEntity	Glossata		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_41191		
UBERON:0005398	biolink:AnatomicalEntity	female reproductive gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005398		
UBERON:0005397	biolink:AnatomicalEntity	brain arachnoid mater			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005397		
UBERON:0005396	biolink:AnatomicalEntity	carotid artery segment			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005396		
NCBITaxon:112252	biolink:OrganismalEntity	Fungi incertae sedis		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_112252		
MONDO:0021722	biolink:Disease	vulvodynia	Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months.	ICD9:625.70|SCTID:238968009|MESH:D056650	mondo.json	vulvodynia	http://purl.obolibrary.org/obo/MONDO_0021722	http://identifiers.org/snomedct/238968009|http://identifiers.org/mesh/D056650	
MONDO:0021723	biolink:Disease	vaginismus	Tightness of the vaginal wall during vaginal penetration including sexual intercourse. It is caused by involuntary spasm of the pelvic floor muscles, and results in painful intercourse or failure to have intercourse. It may due to psychological conditions, trauma in the vaginal area, or vaginal infection.	UMLS:C2004487|MESH:D052065|ICD10CM:N94.2	mondo.json	myalgia of pelvic floor|vaginismus	http://purl.obolibrary.org/obo/MONDO_0021723	http://identifiers.org/mesh/D052065|http://purl.bioontology.org/ontology/ICD10CM/N94.2|UMLS:C2004487	
HGNC:1149	biolink:NamedThing	BUB1B			mondo.json		http://identifiers.org/hgnc/1149		
HP:0001080	biolink:PhenotypicFeature	Biliary tract abnormality	An abnormality of the biliary tree.	MSH:D001660|UMLS:C0005424|UMLS:C0549613|SNOMEDCT_US:105997008	mondo.json	Biliary tract disease	http://purl.obolibrary.org/obo/HP_0001080		
MONDO:0021725	biolink:Disease	obsolete Abderhalden-Kaufmann-Lignac syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021725		
MONDO:0021726	biolink:Disease	abdominal cystic lymphangioma	Abdominal cystic lymphangioma is a benign (noncancerous) malformation of the lymphatic vessels in the abdomen. These vessels carry lymph, a fluid that contains white blood cells that fight infection, throughout the body. The severity of the condition and the associated features vary from person to person. When present, signs and symptoms may include abdominal pain, an increase in waist circumference, an abdominal mass, intestinal obstruction, and/or volvulus (a twisting of the intestines). The cause of abdominal cystic lymphangioma is poorly understood; however, scientists suspect that it is a congenital anomaly. Most cases are diagnosed in people with no family history of the condition. Treatment varies based on the severity of the condition. People with small malformations that do not cause any symptoms may simply be followed with regular imaging studies to monitor for progression. Some of these cases may resolve spontaneously without treatment. When necessary, surgical excision is often the treatment of choice since it is associated with the lowest risk of recurrence..	MESH:C535553|UMLS:C2930929|GARD:0000439	mondo.json	RCL|abdomen cystic lymphangioma|abdominal retroperitoneal lymphangioma|retroperitoneal cystic lymphangioma	http://purl.obolibrary.org/obo/MONDO_0021726	http://identifiers.org/mesh/C535553|UMLS:C2930929	gard_rare
NCIT:C35682	biolink:NamedThing	Positive Laboratory Test Result			mondo.json		http://purl.obolibrary.org/obo/NCIT_C35682		
MONDO:0021727	biolink:Disease	aberrant subclavian artery	Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is oftendiscovered as an incidental finding (such as througha barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childrenmay present asfeeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies..	MESH:C535555|UMLS:C2936828|GARD:0005706|SCTID:93353003	mondo.json	aberrant left subclavian artery|aberrant right subclavian artery|aberrant subclavian artery|congenital malposition of subclavian artery|congenital malpositioned subclavian artery	http://purl.obolibrary.org/obo/MONDO_0021727	http://identifiers.org/snomedct/93353003|http://identifiers.org/mesh/C535555|UMLS:C2936828	gard_rare
HGNC:1142	biolink:NamedThing	BTNL2			mondo.json		http://identifiers.org/hgnc/1142		
NCIT:C35681	biolink:NamedThing	Negative Test Result			mondo.json		http://purl.obolibrary.org/obo/NCIT_C35681		
UBERON:0005399	biolink:AnatomicalEntity	male reproductive gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005399		
MONDO:0006109	biolink:Disease	malignant biphasic mesothelioma	A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features.	EFO:1000124|ICDO:9053/3|DOID:4486|UMLS:C0334515|NCIT:C4282	mondo.json	mesothelioma, biphasic, malignant|malignant mixed mesothelioma|biphasic mesothelioma|malignant biphasic mesothelioma, malignant|mixed mesothelioma|mesothelioma, biphasic, malignant (morphologic abnormality)|malignant biphasic mesothelioma	http://purl.obolibrary.org/obo/MONDO_0006109	DOID:4486|NCIT:C4282|UMLS:C0334515	
MONDO:0006107	biolink:Disease	benign thyroid gland neoplasm	A benign neoplasm arising from the thyroid gland.	NCIT:C3628|EFO:1000122|ICD9:226|SCTID:92439006|UMLS:C0154038	mondo.json	benign neoplasm of the thyroid|thyroid neoplasm, benign|benign thyroid gland tumor|benign tumor of the thyroid gland|benign thyroid gland neoplasm|benign neoplasm of thyroid|benign tumor of thyroid gland|benign thyroid tumor|benign tumor of the thyroid|benign tumor of thyroid|benign neoplasm of thyroid glands|thyroid gland benign neoplasm|benign neoplasm of the thyroid gland|benign thyroid neoplasm|benign neoplasm of thyroid gland	http://purl.obolibrary.org/obo/MONDO_0006107	http://identifiers.org/snomedct/92439006|UMLS:C0154038|NCIT:C3628	
MONDO:0008769	biolink:Disease	neuronal ceroid lipofuscinosis 2	A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.	DOID:0110726|GARD:0003045|NCIT:C85864|Orphanet:228349|OMIM:204500	mondo.json	neuronal ceroid lipofuscinosis type 2|TPP1 neuronal ceroid lipofuscinosis|CLN2 disease, juvenile (subtype)|neuronal ceroid lipofuscinosis, late infantile|neuronal ceroid lipofuscinosis 2 variable age at onset|ceroid lipofuscinosis, neuronal, 2|CLN2|late infantile neuronal ceroid lipofuscinosis|ceroid lipofuscinosis, neuronal, 2, variable Age at onset|Jansky-Bielschowsky disease|ceroid lipofuscinosis, neuronal, type 2|neuronal ceroid lipofuscinosis caused by mutation in TPP1|CLN2 disease, late infantile (subtype)|CLN2 disease	http://purl.obolibrary.org/obo/MONDO_0008769	DOID:0110726|https://omim.org/entry/204500|NCIT:C85864|Orphanet:228349	ordo_etiological_subtype
MONDO:0006108	biolink:Disease	bile duct adenoma	A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction.	UMLS:C0008309|EFO:1000123|SCTID:424091006|ICDO:8160/0|NCIT:C2942|DOID:5381|MESH:D002759	mondo.json	bile duct adenoma (morphologic abnormality)|Cholangioadenoma|CHOLANGIOMA, benign|Hepatocholangioma|Hepatocholangiocellular adenoma|adenoma of the bile duct|adenoma of bile duct|Cholangioma|bile duct adenoma	http://purl.obolibrary.org/obo/MONDO_0006108	http://identifiers.org/mesh/D002759|NCIT:C2942|DOID:5381|UMLS:C0008309|http://identifiers.org/snomedct/424091006	
MONDO:0008768	biolink:Disease	ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene.	GARD:0006845|OMIM:204300|DOID:0110730|Orphanet:228340	mondo.json	CLN4A disease|Kuf's disease, autosomal recessive|Kuf's disease type A|autosomal recessive neuronal ceroid lipofuscinosis 4A|CLN6 neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis 4A|adult neuronal ceroid lipofuscinosis 4A|ceroid lipofuscinosis, neuronal, 4A, autosomal recessive|neuronal ceroid lipofuscinosis caused by mutation in CLN6|CLN4A|neuronal ceroid lipofuscinosis type 4A	http://purl.obolibrary.org/obo/MONDO_0008768	DOID:0110730|https://omim.org/entry/204300|Orphanet:228340	ordo_etiological_subtype
MONDO:0021720	biolink:Disease	obsolete fetal alcohol spectrum disorders			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021720		
MONDO:0006105	biolink:Disease	benign conjunctival neoplasm	Abnormal growth of the cells of the conjunctiva without malignant characteristics.	EFO:1000110|SCTID:92068002|NCIT:C3622|UMLS:C0154025	mondo.json	benign neoplasm of the conjunctiva|benign neoplasm of conjunctiva|benign conjunctiva tumor|benign tumor of the conjunctiva|benign tumor of conjunctiva|benign conjunctival tumor|benign conjunctival neoplasm|conjunctiva benign neoplasm|benign conjunctiva neoplasm	http://purl.obolibrary.org/obo/MONDO_0006105	UMLS:C0154025|http://identifiers.org/snomedct/92068002|NCIT:C3622	
MONDO:0006106	biolink:Disease	benign smooth muscle neoplasm	A benign mesenchymal neoplasm arising from smooth muscle tissue.	EFO:1000121|NCIT:C6510|UMLS:C1332539	mondo.json	benign neoplasm of smooth muscle|benign smooth muscle tumor|benign tumor of the smooth muscle|benign tumor of smooth muscle|benign smooth muscle neoplasm|smooth muscle tissue benign neoplasm|benign neoplasm of the smooth muscle	http://purl.obolibrary.org/obo/MONDO_0006106	UMLS:C1332539|NCIT:C6510	
MONDO:0008767	biolink:Disease	neuronal ceroid lipofuscinosis 3	A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.	GARD:0005897|OMIM:204200|DOID:0110731|Orphanet:228346|NCIT:C61258	mondo.json	CLN3 neuronal ceroid lipofuscinosis|Spielmeyer-Sjogren disease|CLN3|neuronal ceroid lipofuscinosis type 3|neuronal ceroid lipofuscinosis, juvenile|Spielmeyer Sjogren disease|batten disease|ceroid lipofuscinosis, neuronal, 3|Vogt Spielmeyer disease|ceroid lipofuscinosis, neuronal, type 3|CLN3 disease|Vogt-Spielmeyer disease|CLN3 disease, juvenile|neuronal ceroid lipofuscinosis 3|neuronal ceroid lipofuscinosis caused by mutation in CLN3	http://purl.obolibrary.org/obo/MONDO_0008767	NCIT:C61258|DOID:0110731|https://omim.org/entry/204200|Orphanet:228346	ordo_etiological_subtype
MONDO:0008766	biolink:Disease	amaurosis-hypertrichosis syndrome	Amaurosis hypertrichosis is characterised by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents.	ICD10CM:H35.5|Orphanet:1021|GARD:0000637|OMIM:204110|MESH:C536604|SCTID:720983002	mondo.json	amaurosis congenita cone-rod type with congenital hypertrichosis|amaurosis congenita, cone-rod type, with congenital hypertrichosis	http://purl.obolibrary.org/obo/MONDO_0008766	http://identifiers.org/mesh/C536604|https://omim.org/entry/204110|http://identifiers.org/snomedct/720983002|Orphanet:1021	ordo_disease|gard_rare
MONDO:0006103	biolink:Disease	benign adrenal gland pheochromocytoma	A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral.	EFO:1000106|NCIT:C48305	mondo.json	pheochromocytoma, benign|benign adrenal gland pheochromocytoma|adrenal gland pheochromocytoma, benign	http://purl.obolibrary.org/obo/MONDO_0006103	NCIT:C48305	
MONDO:0008765	biolink:Disease	Leber congenital amaurosis 2	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene.	MESH:C536601|OMIM:204100|DOID:0110016|ICD10CM:H35.5|UMLS:C1859844|GARD:0000636	mondo.json	Leber congenital amaurosis type 2|Leber congenital amaurosis caused by mutation in RPE65|amaurosis congenita of Leber II|Leber congenital amaurosis 2|LCA2|amaurosis congenita of Leber, type 2|RPE65 Leber congenital amaurosis|amaurosis congenita of Leber 2	http://purl.obolibrary.org/obo/MONDO_0008765	http://identifiers.org/mesh/C536601|DOID:0110016|https://omim.org/entry/204100|UMLS:C1859844	gard_rare
MONDO:0006104	biolink:Disease	benign carotid body paraganglioma	A carotid body paraganglioma that is confined to the site of origin, without metastatic potential.	UMLS:C2698359|EFO:1000108|NCIT:C79950	mondo.json	benign chemodectoma|carotid body paraganglioma, benign|chemodectoma, benign|benign carotid body paraganglioma	http://purl.obolibrary.org/obo/MONDO_0006104	UMLS:C2698359|NCIT:C79950	
MONDO:0008764	biolink:Disease	Leber congenital amaurosis 1	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene.	OMIM:204000|DOID:0110078|ICD10CM:H35.5|GARD:0000635	mondo.json	Leber congenital amaurosis caused by mutation in GUCY2D|retinal blindness, congenital|Leber congenital amaurosis 1|amaurosis congenita of Leber, type 1|GUCY2D Leber congenital amaurosis|amaurosis congenita of Leber I|LCA1|CRB|LCA|amaurosis congenita of Leber 1|Leber congenital amaurosis type 1	http://purl.obolibrary.org/obo/MONDO_0008764	DOID:0110078|https://omim.org/entry/204000	
MONDO:0006101	biolink:Disease	obsolete Bartholin gland squamous cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006101		
MONDO:0008763	biolink:Disease	Alstrom syndrome	A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction.	NCIT:C84549|Orphanet:64|MedDRA:10068783|GARD:0005787|DOID:0050473|MESH:D056769|UMLS:C0268425|ICD9:759.89|OMIM:203800|SCTID:63702009	mondo.json	ALSS|Alstrom syndrome|Alstrom's syndrome|ALMS|Alström syndrome	http://purl.obolibrary.org/obo/MONDO_0008763	DOID:0050473|http://identifiers.org/snomedct/63702009|Orphanet:64|NCIT:C84549|UMLS:C0268425|https://omim.org/entry/203800|http://identifiers.org/mesh/D056769	ordo_disease
MONDO:0006102	biolink:Disease	basaloid carcinoma	A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading.	ICDO:8123/3|NCIT:C4121|EFO:1000105	mondo.json	basaloid carcinoma	http://purl.obolibrary.org/obo/MONDO_0006102	NCIT:C4121	
MONDO:0008762	biolink:Disease	autosomal recessive Alport syndrome	Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed.	SCTID:717767009|DOID:0110033|GARD:0000625|OMIM:203780|MedDRA:10001843|Orphanet:88919	mondo.json	Alport syndrome 2, autosomal recessive|Alport syndrome, autosomal recessive|Alport syndrome autosomal recessive|Alport syndrome recessive type|nephropathy and deafness	http://purl.obolibrary.org/obo/MONDO_0008762	DOID:0110033|http://identifiers.org/snomedct/717767009|https://omim.org/entry/203780|Orphanet:88919	gard_rare|ordo_etiological_subtype
MONDO:0008761	biolink:Disease	obsolete alpha-2-deficient collagen disease		GARD:0003454|GARD:0000616|MESH:C565963|UMLS:C1859850|OMIM:203760	mondo.json	alpha-2-deficient collagen disease|Meigel disease	http://purl.obolibrary.org/obo/MONDO_0008761	http://identifiers.org/mesh/C565963|https://omim.org/entry/203760|UMLS:C1859850	
MONDO:0006100	biolink:Disease	obsolete Bartholin gland carcinoma			mondo.json	obsolete Bartholin gland carcinoma (disease)	http://purl.obolibrary.org/obo/MONDO_0006100		
MONDO:0008760	biolink:Disease	beta-ketothiolase deficiency	Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence.	MESH:C535434|OMIM:203750|DOID:14723|NCIT:C98841|Orphanet:134|UMLS:C1533628|GARD:0000872	mondo.json	2-methyl-3-hydroxybutyricacidemia|alpha-methylacetoaceticaciduria|mitochondrial acetoacetyl-CoA thiolase deficiency|Alpha methylacetoacetic aciduria|T2 deficiency|Beta ketothiolase deficiency|3-oxothiolase deficiency|mitochondrial acetoacetyl-coenzyme A thiolase deficiency|3-ketothiolase deficiency|Alpha-methyl-acetoacetyl-CoA thiolase deficiency|2-Methyl-3-hydroxybutyric acidemia|mitochondrial acetoacetyl-Coa thiolase deficiency|beta-ketothiolase deficiency|peroxisomal thiolase deficiency|BKT|Mat deficiency|3-Ktd deficiency|ALPHA-methylacetoacetic aciduria	http://purl.obolibrary.org/obo/MONDO_0008760	DOID:14723|http://identifiers.org/mesh/C535434|NCIT:C98841|https://omim.org/entry/203750|Orphanet:134	ordo_disease
CHEBI:29101	biolink:ChemicalSubstance	sodium(1+)	A monoatomic monocation obtained from sodium.		mondo.json	sodium(1+) ion|Na+|sodium(I) cation|sodium(1+)|Na(+)|SODIUM ION|sodium cation	http://purl.obolibrary.org/obo/CHEBI_29101		
UBERON:0005386	biolink:AnatomicalEntity	olfactory segment of nasal mucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005386		
HGNC:1152	biolink:NamedThing	BVES			mondo.json		http://identifiers.org/hgnc/1152		
UBERON:0005384	biolink:AnatomicalEntity	nasal cavity epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005384		
UBERON:0005381	biolink:AnatomicalEntity	dentate gyrus granule cell layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005381		
CHEBI:78113	biolink:ChemicalSubstance	fatty acid anion 3:0	Any saturated fatty acid anion containing 3 carbons. Formed by deprotonation of the carboxylic acid moiety. Major species at pH 7.3.		mondo.json	fatty acid 3:0	http://purl.obolibrary.org/obo/CHEBI_78113		
FOODON:03414374	biolink:NamedThing	bovine	The biological subfamily *Bovinae* includes a diverse group of 10 genera of medium- to large-sized ungulates, including domestic cattle, the bison, African buffalo, the water buffalo, the yak, and the four-horned and spiral-horned antelopes. The evolutionary relationship between the members of the group is obscure, and their classification into loose tribes rather than formal subgroups reflects this uncertainty. General characteristics include cloven hoofs and usually at least one of the sexes of a species having true horns.		mondo.json		http://purl.obolibrary.org/obo/FOODON_03414374		
NCBITaxon:7586	biolink:OrganismalEntity	Echinodermata		GC_ID:1	mondo.json	echinoderms|echinoderms	http://purl.obolibrary.org/obo/NCBITaxon_7586		
HP:0001097	biolink:PhenotypicFeature	Keratoconjunctivitis sicca	Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.	UMLS:C0043349|MSH:D007638|MSH:D014985|UMLS:C0013238|UMLS:C2930821|UMLS:C0022575|SNOMEDCT_US:363677007|MSH:D015352|MSH:C531719|SNOMEDCT_US:46152009|SNOMEDCT_US:302896008	mondo.json	Dry eyes|Keratitis sicca|Dry eye syndrome|Xerophthalmia	http://purl.obolibrary.org/obo/HP_0001097		hposlim_core
HP:0001098	biolink:PhenotypicFeature	Abnormal fundus morphology	Any structural abnormality of the fundus of the eye.	UMLS:C4025804	mondo.json	Abnormality of the fundus	http://purl.obolibrary.org/obo/HP_0001098		
UBERON:0005389	biolink:AnatomicalEntity	transparent eye structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005389		
MONDO:0021718	biolink:Disease	polyneuritis	Inflammation of several peripheral nerves.	GTR:AN1353837|HP:0031003|SCTID:76886005|NCIT:C26864|GTR:AN1355640|UMLS:C0032541	mondo.json	Polyneuritides|Polyneuritis|polyneuritis|Multiple neuritis|Inflammatory polyneuropathy|inflammatory polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0021718	http://identifiers.org/snomedct/76886005|NCIT:C26864|UMLS:C0032541	
HP:0001096	biolink:PhenotypicFeature	Keratoconjunctivitis	Inflammation of the cornea and conjunctiva.	SNOMEDCT_US:88151007|MSH:D007637|UMLS:C0022573	mondo.json		http://purl.obolibrary.org/obo/HP_0001096		hposlim_core
UBERON:0005388	biolink:AnatomicalEntity	photoreceptor array			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005388		
MONDO:0008739	biolink:Disease	agenesis of cerebral white matter		OMIM:202600	mondo.json	agenesis of cerebral white matter	http://purl.obolibrary.org/obo/MONDO_0008739	https://omim.org/entry/202600	
MONDO:0008738	biolink:Disease	aganglionosis, total intestinal	A complete lack of ganglia in the intestine. This is an extremely severe form of aganglionosis distinct from Hirschsprung Disease. This is an n-of-1 use case where only one patient or family has been described with this disorder.	OMIM:202550|NCIT:C101074|MESH:C538058	mondo.json	aganglionosis, total intestinal|total intestinal aganglionosis	http://purl.obolibrary.org/obo/MONDO_0008738	http://identifiers.org/mesh/C538058|https://omim.org/entry/202550|NCIT:C101074	n_of_one
MONDO:0008737	biolink:Disease	congenital afibrinogenemia	Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.	NCIT:C98130|OMIM:202400|DOID:2236|SCTID:154818001|Orphanet:98880|MESH:D000347|GARD:0005761	mondo.json	afibrinogenemia, congenital|hypofibrinogenemia, congenital|factor I deficiency|fibrinogen deficiency|afibrinogenemia congenital|familial afibrinogenemia|afibrinogenemia	http://purl.obolibrary.org/obo/MONDO_0008737	https://omim.org/entry/202400|http://identifiers.org/mesh/D000347|Orphanet:98880|NCIT:C98130|DOID:2236|http://identifiers.org/snomedct/154818001	ordo_clinical_subtype
MONDO:0008736	biolink:Disease	peroxisome biogenesis disorder 2B		DOID:0080622|OMIM:202370|UMLS:C3550234	mondo.json	peroxisome biogenesis disorder 2B|peroxisome biogenesis disorder type 2B|PBD2B	http://purl.obolibrary.org/obo/MONDO_0008736	UMLS:C3550234|https://omim.org/entry/202370|DOID:0080622	
MONDO:0008735	biolink:Disease	adrenocortical unresponsiveness to ACTH with postreceptor defect		OMIM:202355|UMLS:C1859971|MESH:C565971	mondo.json	familial glucocorticoid deficiency due to defect distal to ACTH receptor|adrenocortical unresponsiveness to ACTH with postreceptor defect	http://purl.obolibrary.org/obo/MONDO_0008735	https://omim.org/entry/202355|UMLS:C1859971|http://identifiers.org/mesh/C565971	
MONDO:0008734	biolink:Disease	adrenocortical carcinoma, hereditary	An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome.	UMLS:C1859972|OMIM:202300|MESH:C565972	mondo.json	hereditary adrenal cortex carcinoma|ADCC|adrenocortical carcinoma, hereditary|adrenocortical carcinoma, pediatric	http://purl.obolibrary.org/obo/MONDO_0008734	https://omim.org/entry/202300|UMLS:C1859972|http://identifiers.org/mesh/C565972	
MONDO:0008733	biolink:Disease	familial glucocorticoid deficiency	Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.	DOID:0080620|MESH:C565974|Orphanet:361|SCTID:765326001|GARD:0002498|OMIMPS:202200|UMLS:CN204661|NCIT:C120446	mondo.json	glucocorticoid deficiency|GCCD	http://purl.obolibrary.org/obo/MONDO_0008733	https://omim.org/phenotypicSeries/PS202200|http://identifiers.org/snomedct/765326001|DOID:0080620|NCIT:C120446|Orphanet:361|http://identifiers.org/mesh/C565974|UMLS:CN204661	gard_rare|ordo_disease
MONDO:0008732	biolink:Disease	adrenal hypoplasia, cytomegalic type		OMIM:202155|UMLS:C1859977	mondo.json	adrenal hypoplasia, cytomegalic type	http://purl.obolibrary.org/obo/MONDO_0008732	UMLS:C1859977|https://omim.org/entry/202155	
MONDO:0008731	biolink:Disease	familial adrenal hypoplasia with absent pituitary luteinizing hormone		MESH:C565976|Orphanet:95700|OMIM:202150|UMLS:C1859978	mondo.json	familial adrenal hypoplasia, miniature type|familial adrenal hypoplasia with absent pituitary LH|adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone	http://purl.obolibrary.org/obo/MONDO_0008731	UMLS:C1859978|http://identifiers.org/mesh/C565976|Orphanet:95700|https://omim.org/entry/202150	ordo_disease
MONDO:0008730	biolink:Disease	congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.	GARD:0001469|OMIM:202110|Orphanet:90793|SCTID:124220008|ICD9:277.6	mondo.json	adrenal hyperplasia 5|17,20-lyase deficiency, isolated|17-Alpha-Hydroxylase deficiency|17-Alpha-Hydroxylase/17,20-lyase deficiency, combined complete|CAH due to 17-alpha-hydroxylase deficiency|17-Alpha-Hydroxylase/17,20-lyase deficiency, combined partial|congenital adrenal hyperplasia type 5|combined 17-hydroxylase/17,20-lyase deficiency|adrenal hyperplasia, congenital, due to 17-ALPHA-HYDROXYLASE deficiency|17-alpha-hydroxylase/17,20-lyase deficiency	http://purl.obolibrary.org/obo/MONDO_0008730	Orphanet:90793|http://identifiers.org/snomedct/124220008|https://omim.org/entry/202110	ordo_disease
UBERON:0005375	biolink:AnatomicalEntity	spinal cord ventral column			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005375		
HGNC:1160	biolink:NamedThing	TWNK			mondo.json		http://identifiers.org/hgnc/1160		
HGNC:1161	biolink:NamedThing	CEP55			mondo.json		http://identifiers.org/hgnc/1161		
MONDO:0021702	biolink:Disease	alcohol amnestic disorder	A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)	EFO:1001759|MESH:D000425|SCTID:73097000	mondo.json	syndromes, alcoholic Korsakoff|psychoses, alcohol-induced amnestic|Korsakoff syndromes, alcoholic|amnestic psychosis, alcohol-induced|alcohol amnestic syndromes|alcohol-induced Dysmnesic psychoses|alcohol amnestic syndrome|alcohol-induced amnestic syndrome|Dysmnesic syndromes, alcohol-induced|alcohol induced Dysmnesic syndrome|alcohol-induced Korsakoff syndromes|syndrome, alcohol-induced Dysmnesic|Dysmnesic syndrome, alcohol-induced|amnestic psychosis, alcohol induced|syndromes, alcohol-induced Dysmnesic|alcohol-induced amnestic psychoses|amnestic psychoses, alcohol-induced|psychosis, alcohol-induced amnestic|alcohol-induced Dysmnesic psychosis|alcohol-induced Dysmnesic syndrome|alcohol induced amnestic syndrome|alcohol induced amnestic psychosis|alcohol-induced amnestic psychosis|amnestic syndromes, alcohol|alcohol induced Dysmnesic psychosis|alcoholic Korsakoff syndromes|amnestic disorders, alcohol|Dysmnesic psychosis, alcohol-induced|alcoholic Korsakoff syndrome|amnestic syndromes, alcohol-induced|syndrome, alcohol-induced Korsakoff|amnestic disorder, alcohol|Korsakoff syndrome, alcohol-induced|syndromes, alcohol-induced amnestic|Korsakoff syndromes, alcohol-induced|alcohol induced Korsakoff syndrome|syndromes, alcohol-induced Korsakoff|psychosis, alcohol-induced Dysmnesic|amnestic syndrome, alcohol|alcohol-induced Dysmnesic syndromes|syndrome, alcohol-induced amnestic|syndromes, alcohol amnestic|amnestic syndrome, alcohol-induced|alcohol induced persisting amnestic disorder|syndrome, alcohol amnestic|Dysmnesic psychoses, alcohol-induced|alcohol-induced Korsakoff syndrome|alcohol-induced amnestic syndromes|psychoses, alcohol-induced Dysmnesic|alcohol amnestic disorders|Korsakoff syndrome, alcoholic|alcohol-induced persisting amnestic disorder|syndrome, alcoholic Korsakoff	http://purl.obolibrary.org/obo/MONDO_0021702	http://identifiers.org/snomedct/73097000|http://identifiers.org/mesh/D000425	
HP:0025031	biolink:PhenotypicFeature	Abnormality of the digestive system			mondo.json		http://purl.obolibrary.org/obo/HP_0025031		
HP:0025032	biolink:PhenotypicFeature	Abnormality of digestive system physiology	A functional anomaly of the digestive system.		mondo.json		http://purl.obolibrary.org/obo/HP_0025032		
FOODON:03414381	biolink:NamedThing	bovid	A bovid (family *Bovidae*) is any of almost 140 species of cloven-hoofed, ruminant mammal which has males with characteristic unbranching horns covered in a permanent sheath of keratin.  The family is widespread, being native to Asia, Africa, Europe and North America, and diverse: members include bison, African buffalo, water buffalo, antelopes, gazelles, sheep, goats, muskoxen, and domestic cattle.		mondo.json		http://purl.obolibrary.org/obo/FOODON_03414381		
HP:0025033	biolink:PhenotypicFeature	Abnormality of digestive system morphology	A structural anomaly of the digestive system.		mondo.json		http://purl.obolibrary.org/obo/HP_0025033		
MONDO:0008749	biolink:Disease	pseudohypoparathyroidism type 2	Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response.	ICD9:275.49|UMLS:CN206737|UMLS:C2932717|Orphanet:94090|OMIM:203330|GARD:0010682|SCTID:42183005|MESH:C548077	mondo.json	Php 2|pseudohypoparathyroidism, type II|PHP II|PHP2	http://purl.obolibrary.org/obo/MONDO_0008749	http://identifiers.org/snomedct/42183005|http://identifiers.org/mesh/C548077|UMLS:CN206737|Orphanet:94090|UMLS:C2932717|https://omim.org/entry/203330	gard_rare|ordo_disease
MONDO:0008748	biolink:Disease	Hermansky-Pudlak syndrome 1	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene.	MESH:C538539|OMIM:203300|NCIT:C150367|UMLS:C2931875|DOID:0060539	mondo.json	Hermansky-Pudlak syndrome caused by mutation in HPS1|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells|Hermansky-Pudlak syndrome type 1|Hermansky-Pudlak syndrome 1|HPS1|Delta storage pool disease|HPS1 Hermansky-Pudlak syndrome	http://purl.obolibrary.org/obo/MONDO_0008748	http://identifiers.org/mesh/C538539|NCIT:C150367|DOID:0060539|UMLS:C2931875|https://omim.org/entry/203300	
MONDO:0008747	biolink:Disease	oculocutaneous albinism type 3	Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population.	OMIM:203290|OMIM:278400|GARD:0004039|Orphanet:79433|MESH:C537731|SCTID:63450009|DOID:0070097|ICD9:270.2|GARD:0009641	mondo.json	OCA3|rufous oculocutaneous albinism|Xanthism|albinism, oculocutaneous, type III|TYRP1 oculocutaneous albinism|albinism, oculocutaneous, type 3|ROCA|oculocutaneous albinism type III|albinism 3|xanthous oculocutaneous albinism|oculocutaneous albinism caused by mutation in TYRP1|oculocutaneous albinism type 3|rufous OCA|Red oculocutaneous albinism|oculocutaneous albinism, type 3	http://purl.obolibrary.org/obo/MONDO_0008747	http://identifiers.org/snomedct/63450009|http://identifiers.org/mesh/C537731|Orphanet:79433|DOID:0070097|https://omim.org/entry/203290	gard_rare|ordo_disease
MONDO:0008746	biolink:Disease	oculocutaneous albinism type 2	Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.	Orphanet:79432|UMLS:C0268495|GARD:0004038|OMIM:203200|MESH:C537730|DOID:0070096	mondo.json	Brown oculocutaneous albinism|albinism 2|albinism, Brown oculocutaneous|Albinoidism|oculocutaneous albinism, type 2|OCA2|oculocutaneous albinism tyrosinase positive|albinism, oculocutaneous, type 2|oculocutaneous albinism type 2|tyrosinase-positive oculocutaneous albinism|oculocutaneous albinism type II|oculocutaneous albinism, tyrosinase-positive|albinism, oculocutaneous, type II|albinism, oculocutaneous, type II, modifier of	http://purl.obolibrary.org/obo/MONDO_0008746	http://identifiers.org/mesh/C537730|Orphanet:79432|DOID:0070096|https://omim.org/entry/203200|UMLS:C0268495	gard_rare|ordo_disease
MONDO:0008745	biolink:Disease	oculocutaneous albinism type 1A	Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.	Orphanet:79431|SCTID:6483008|ICD9:270.2|OMIM:203100|DOID:0070094	mondo.json	TYR oculocutaneous albinism|oculocutaneous albinism, tyrosinase-negative|albinism 1|Tyr oculocutaneous albinism|oculocutaneous albinism type IA|albinism, oculocutaneous, type IA|tyrosinase-negative oculocutaneous albinism|albinism, oculocutaneous, type 1A|oculocutaneous albinism, type 1|oculocutaneous albinism caused by mutation in TYR|oculocutaneous albinism caused by mutation in Tyr|OCA1A	http://purl.obolibrary.org/obo/MONDO_0008745	http://identifiers.org/snomedct/6483008|Orphanet:79431|https://omim.org/entry/203100|DOID:0070094	ordo_clinical_subtype
MONDO:0008744	biolink:Disease	alar cartilages hypoplasia-coloboma-telecanthus syndrome	Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.	MESH:C535967|GARD:0000588|Orphanet:2007|OMIM:203000|UMLS:C1859964	mondo.json	frontonasal dysplasia with alar clefts|alar-nasal cartilages, coloboma of, with telecanthus|coloboma of alar-nasal cartilages with telecanthus	http://purl.obolibrary.org/obo/MONDO_0008744	UMLS:C1859964|http://identifiers.org/mesh/C535967|https://omim.org/entry/203000|Orphanet:2007	ordo_malformation_syndrome
MONDO:0008743	biolink:Disease	Stimmler syndrome	Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood.	UMLS:C1859965|Orphanet:3199|SCTID:733072002|GARD:0005026|OMIM:202900|MESH:C565968	mondo.json	ALANINURIA with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus|Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus|Stimmler syndrome	http://purl.obolibrary.org/obo/MONDO_0008743	https://omim.org/entry/202900|http://identifiers.org/mesh/C565968|http://identifiers.org/snomedct/733072002|Orphanet:3199|UMLS:C1859965	ordo_malformation_syndrome
NCBITaxon:41165	biolink:OrganismalEntity	Schizopyrenida		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_41165		
MONDO:0008742	biolink:Disease	autosomal dominant severe congenital neutropenia	Autosomal dominant form of severe congenital neutropenia.	UMLS:C1859966|Orphanet:486|GARD:0009558	mondo.json	severe congenital neutropenia autosomal dominant|severe congenital neutropenia, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008742	Orphanet:486|UMLS:C1859966	ordo_disease|gard_rare
MONDO:0008741	biolink:Disease	PAGOD syndrome	PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.	MESH:C537018|OMIM:202660|SCTID:722132007|UMLS:C1859967|GARD:0003086|Orphanet:991	mondo.json	Kennerknecht sorgo Oberhoffer syndrome|pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia|pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome|agonadism with multiple internal malformations|PAGOD syndrome	http://purl.obolibrary.org/obo/MONDO_0008741	Orphanet:991|http://identifiers.org/snomedct/722132007|UMLS:C1859967|http://identifiers.org/mesh/C537018|https://omim.org/entry/202660	ordo_malformation_syndrome
MONDO:0008740	biolink:Disease	agnathia-otocephaly complex	Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.	SCTID:48180002|OMIM:202650|DOID:0060341|GARD:0009126|NCIT:C124568|Orphanet:990|UMLS:CN207252|ICD9:759.89	mondo.json	otocephaly|agnathia-holoprosencephaly|agnathia-holoprosencephaly-situs inversus syndrome|holoprosencephaly-agnathia|AGOTC|agnathia-otocephaly complex|dysgnathia complex agnathia-holoprosencephaly|Dysgnathia Complex agnathia-holoprosencephaly	http://purl.obolibrary.org/obo/MONDO_0008740	UMLS:CN207252|Orphanet:990|DOID:0060341|http://identifiers.org/snomedct/48180002|NCIT:C124568|https://omim.org/entry/202650	ordo_malformation_syndrome
UBERON:0005363	biolink:AnatomicalEntity	inferior vagus X ganglion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005363		
HGNC:1171	biolink:NamedThing	ELP4			mondo.json		http://identifiers.org/hgnc/1171		
CHR:9606-chr13q34	biolink:NamedThing	13q34 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr13q34		
UBERON:0005362	biolink:AnatomicalEntity	vagus X ganglion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005362		
HP:0001072	biolink:PhenotypicFeature	Thickened skin	Laminar thickening of skin.	MEDDRA:10040936|UMLS:C0334008|SNOMEDCT_US:69943009|SNOMEDCT_US:17417006|UMLS:C4020878	mondo.json	Thickened skin|Diffusely thickened skin|Pachydermia|Thick skin	http://purl.obolibrary.org/obo/HP_0001072		hposlim_core
UBERON:0005367	biolink:AnatomicalEntity	hippocampus granule cell layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005367		
UBERON:0005366	biolink:AnatomicalEntity	olfactory lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005366		
GO:0031503	biolink:NamedThing	protein-containing complex localization	A localization process that acts on a protein complex; the complex is transported to, or maintained in, a specific location.		mondo.json	cellular protein complex localization|cellular protein-containing complex localization|protein complex localization|establishment and maintenance of protein complex localization|cellular protein complex localisation|protein complex localisation|establishment and maintenance of cellular protein complex localization	http://purl.obolibrary.org/obo/GO_0031503		
GO:0006547	biolink:NamedThing	histidine metabolic process	The chemical reactions and pathways involving histidine, 2-amino-3-(1H-imidazol-4-yl)propanoic acid.		mondo.json	histidine metabolism	http://purl.obolibrary.org/obo/GO_0006547		
GO:0006544	biolink:NamedThing	glycine metabolic process	The chemical reactions and pathways involving glycine, aminoethanoic acid.		mondo.json	glycine metabolism	http://purl.obolibrary.org/obo/GO_0006544		
GO:0006541	biolink:NamedThing	glutamine metabolic process	The chemical reactions and pathways involving glutamine, 2-amino-4-carbamoylbutanoic acid.		mondo.json	glutamine metabolism	http://purl.obolibrary.org/obo/GO_0006541		
HP:0003621	biolink:PhenotypicFeature	Juvenile onset	Onset of signs or symptoms of disease between the age of 5 and 15 years.	UMLS:C4025588	mondo.json	Signs and symptoms begin before 15 years of age	http://purl.obolibrary.org/obo/HP_0003621		
PATO:0001294	biolink:NamedThing	radiation reflective quality	A scalar EM radiation quality which obtains by the capacity of the bearer to scatter or reflect radiation.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001294		
HP:0003623	biolink:PhenotypicFeature	Neonatal onset	Onset of signs or symptoms of disease within the first 28 days of life.	UMLS:C1855106	mondo.json	Onset in first weeks of life|Onset in neonatal period|Neonatal onset	http://purl.obolibrary.org/obo/HP_0003623		
PATO:0001297	biolink:NamedThing	reflectivity	A radiation reflective quality inhering in a bearer by virtue of the ratio of the energy of a wave reflected from its surface to the energy possessed by the wave striking the bearer's surface.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001297		
PATO:0001291	biolink:NamedThing	electromagnetic (EM) radiation quality	A physical quality that inheres in an bearer by virtue of how that bearer interacts with electromagnetic radiation.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001291		
PATO:0001292	biolink:NamedThing	full-spectrum EM radiation quality	An EM radiation quality that is independent of the EM wavelength range.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001292		
GO:0006558	biolink:NamedThing	L-phenylalanine metabolic process	The chemical reactions and pathways involving L-phenylalanine, the L-enantiomer of 2-amino-3-phenylpropanoic acid, i.e. (2S)-2-amino-3-phenylpropanoic acid.		mondo.json	phenylalanine metabolic process|phenylalanine metabolism|L-phenylalanine metabolism	http://purl.obolibrary.org/obo/GO_0006558		
GO:0006555	biolink:NamedThing	methionine metabolic process	The chemical reactions and pathways involving methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins.		mondo.json	methionine and threonine metabolism|methionine metabolism|methionine and threonine metabolic process	http://purl.obolibrary.org/obo/GO_0006555		
GO:0006520	biolink:NamedThing	cellular amino acid metabolic process	The chemical reactions and pathways involving amino acids, carboxylic acids containing one or more amino groups, as carried out by individual cells.		mondo.json	cellular amino acid and derivative metabolic process|amino acid and derivative metabolism|cellular amino acid metabolism|amino acid metabolic process	http://purl.obolibrary.org/obo/GO_0006520		
GO:0006521	biolink:NamedThing	regulation of cellular amino acid metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amino acids.		mondo.json	regulation of amino acid metabolism	http://purl.obolibrary.org/obo/GO_0006521		
UBERON:0007914	biolink:AnatomicalEntity	bone of craniocervical region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007914		
HGNC:3700	biolink:NamedThing	FH			mondo.json		http://identifiers.org/hgnc/3700		
HGNC:3706	biolink:NamedThing	ATP8B1			mondo.json		http://identifiers.org/hgnc/3706		
HGNC:3705	biolink:NamedThing	FIBP			mondo.json		http://identifiers.org/hgnc/3705		
HGNC:3702	biolink:NamedThing	FHL1			mondo.json		http://identifiers.org/hgnc/3702		
IAO:0000700	biolink:NamedThing	has ontology root term	Ontology annotation property. Relates an ontology to a term that is a designated root term of the ontology. Display tools like OLS can use terms annotated with this property as the starting point for rendering the ontology class hierarchy. There can be more than one root.		mondo.json		http://purl.obolibrary.org/obo/IAO_0000700		
GO:0006506	biolink:NamedThing	GPI anchor biosynthetic process	The chemical reactions and pathways resulting in the formation of a glycosylphosphatidylinositol (GPI) anchor that attaches some membrane proteins to the lipid bilayer of the cell membrane. The phosphatidylinositol group is linked via the C-6 hydroxyl residue of inositol to a carbohydrate chain which is itself linked to the protein via an ethanolamine phosphate group, its amino group forming an amide linkage with the C-terminal carboxyl of the protein. Some GPI anchors have variants on this canonical linkage.		mondo.json	GPI anchor formation|glycosylphosphatidylinositol biosynthetic process|glycosylphosphatidylinositol biosynthesis|GPI anchor anabolism|GPI/GSI anchor biosynthetic process|GPI/GSI anchor biosynthesis|GPI anchor synthesis|GPI anchor biosynthesis	http://purl.obolibrary.org/obo/GO_0006506		
MONDO:0043083	biolink:Disease	coronal synostosis, syndactyly and jejunal atresia		GARD:0001532|MESH:C536445|UMLS:C2931194	mondo.json	asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia	http://purl.obolibrary.org/obo/MONDO_0043083	http://identifiers.org/mesh/C536445|UMLS:C2931194	gard_rare
GO:0006505	biolink:NamedThing	GPI anchor metabolic process	The chemical reactions and pathways involving glycosylphosphatidylinositol anchors, molecular mechanisms for attaching membrane proteins to the lipid bilayer of cell membranes. Structurally they consist of a molecule of phosphatidylinositol to which is linked, via the C-6 hydroxyl of the inositol, a carbohydrate chain. This chain is in turn linked to the protein through an ethanolamine phosphate group, the amino group of which is in amide linkage with the C-terminal carboxyl of the protein chain, the phosphate group being esterified to the C-6 hydroxyl of the terminal mannose of the core carbohydrate chain.		mondo.json	GPI anchor metabolism|glycosylphosphatidylinositol metabolic process|GPI/GSI anchor metabolic process|glycosylphosphatidylinositol metabolism|GPI/GSI anchor metabolism	http://purl.obolibrary.org/obo/GO_0006505		
MONDO:0043085	biolink:Disease	chromosome 1, uniparental disomy 1q12 q21		UMLS:CN035970|GARD:0001878|MESH:C538085	mondo.json	uniparental disomy 1q12 q21|Mosaic trisomy 1q12 q21	http://purl.obolibrary.org/obo/MONDO_0043085	UMLS:CN035970|http://identifiers.org/mesh/C538085	gard_rare
UBERON:0005309	biolink:AnatomicalEntity	pronephric nephron			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005309		
MONDO:0043087	biolink:Disease	thickened earlobes with conductive deafness from incus-stapes abnormalities		UMLS:C2931222|MESH:C536511|GARD:0002034|OMIM:128980	mondo.json	Schweitzer Kemink Graham syndrome|conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia|thickened earlobes with conductive deafness from incus-stapes abnormalities	http://purl.obolibrary.org/obo/MONDO_0043087	http://identifiers.org/mesh/C536511|UMLS:C2931222	gard_rare
MONDO:0043089	biolink:Disease	acute posterior multifocal placoid pigment epitheliopathy	Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired, inflammatory eye condition affecting the retina, retinal pigment epithelium (pigmented layer of the retina), and choroid. It usually affects both eyes and is characterized by multiple, yellow-white lesions in the back of the eye. The condition can significantly impair visual acuity if the macula is involved. APMPPE typically resolves on its own in weeks to months. While the cause is unknown, about a third of cases appear to develop after a flu-like illness. Non-ocular symptoms are uncommon, but cerebral vasculitis can be present and may cause permanent and/or severe neurological complications.	UMLS:C0154884|SCTID:89188001|GARD:0002183	mondo.json	apmppe|multifocal placoid pigment epitheliopathy|pigment epitheliopathy, disseminated retinitis and retinochoroiditis|epitheliopathy, acute posterior multifocal placoid pigment|acute placoid pigment epitheliopathy|AMPPE|APMPPE|acute multifocal placoid pigment epitheliopathy|amppe - acute multifocal placoid pigment epitheliopathy|acute posterior multifocal placoid pigment epitheliopathy	http://purl.obolibrary.org/obo/MONDO_0043089	UMLS:C0154884|http://identifiers.org/snomedct/89188001	gard_rare
UBERON:0005310	biolink:AnatomicalEntity	pronephric nephron tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005310		
HP:0001000	biolink:PhenotypicFeature	Abnormality of skin pigmentation	An abnormality of the pigmentation of the skin.	UMLS:C1260926	mondo.json	Abnormal skin color|Abnormality of pigmentation|Pigmentary skin changes|Abnormal pigmentation|Abnormal skin colour|Pigmentary changes|Abnormal skin pigmentation|Abnormality of skin pigmentation|Pigmentation anomaly	http://purl.obolibrary.org/obo/HP_0001000		hposlim_core
HP:0001004	biolink:PhenotypicFeature	Lymphedema	Localized fluid retention and tissue swelling caused by a compromised lymphatic system.	SNOMEDCT_US:30213001|SNOMEDCT_US:234097001|MSH:D008209|UMLS:C0240278|UMLS:C0024236|UMLS:C1835229	mondo.json	Onset of lymphedema around puberty|Lymphatic obstruction|Swelling caused by excess lymph fluid under skin|Lymphoedema	http://purl.obolibrary.org/obo/HP_0001004		
HP:0001005	biolink:PhenotypicFeature	Dermatological manifestations of systemic disorders		UMLS:C4025812	mondo.json		http://purl.obolibrary.org/obo/HP_0001005		secondary_consequence
UBERON:0005317	biolink:AnatomicalEntity	pulmonary artery endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005317		
HGNC:3721	biolink:NamedThing	FKBP5			mondo.json		http://identifiers.org/hgnc/3721		
UBERON:0005316	biolink:AnatomicalEntity	endocardial endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005316		
GO:0006508	biolink:NamedThing	proteolysis	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.		mondo.json	peptidolysis|ATP-dependent proteolysis	http://purl.obolibrary.org/obo/GO_0006508		
CHEBI:4551	biolink:ChemicalSubstance	digoxin	A  cardenolide glycoside that is digitoxin beta-hydroxylated at C-12. A cardiac glycoside extracted from the foxglove plant, Digitalis lanata, it is used to control ventricular rate in atrial fibrillation and in the management of congestive heart failure with atrial fibrillation, but the margin between toxic and therapeutic doses is small.		mondo.json	digoxin|(3beta,5beta,12beta)-3-{[2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranosyl]oxy}-12,14-dihydroxycard-20(22)-enolide|12beta-hydroxydigitoxin	http://purl.obolibrary.org/obo/CHEBI_4551		
UBERON:0005311	biolink:AnatomicalEntity	mammary placode			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005311		
GO:0006517	biolink:NamedThing	protein deglycosylation	The removal of sugar residues from a glycosylated protein.		mondo.json	glycoprotein deglycosylation	http://purl.obolibrary.org/obo/GO_0006517		
MONDO:0043094	biolink:Disease	ichthyosis, follicular		SCTID:238627002|GARD:0002355	mondo.json	follicular ichthyosis	http://purl.obolibrary.org/obo/MONDO_0043094	http://identifiers.org/snomedct/238627002	gard_rare
GO:0006518	biolink:NamedThing	peptide metabolic process	The chemical reactions and pathways involving peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another.		mondo.json	peptide metabolism	http://purl.obolibrary.org/obo/GO_0006518		
MONDO:0043096	biolink:Disease	holoacardius amorphus		GARD:0002720|Orphanet:2161|SCTID:41049003	mondo.json	fetus anideus|Holoacardius amorphus|amorphus globosus|amorphous globosus	http://purl.obolibrary.org/obo/MONDO_0043096	http://identifiers.org/snomedct/41049003|Orphanet:2161	gard_rare
NCBITaxon:2704647	biolink:OrganismalEntity	Metakinetoplastina		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2704647		
MONDO:0043099	biolink:Disease	Hordnes Engebretsen Knudtson syndrome		MESH:C536067|UMLS:C2931100|GARD:0002736	mondo.json	acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation|acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0043099	UMLS:C2931100|http://identifiers.org/mesh/C536067	gard_rare
HP:0003674	biolink:PhenotypicFeature	Onset	The age group in which disease manifestations appear.	UMLS:C0206132|MSH:D017668	mondo.json	Age symptoms begin|Age of onset	http://purl.obolibrary.org/obo/HP_0003674		
CHEBI:29195	biolink:ChemicalSubstance	cyanate			mondo.json	[C(N)O](-)|OCN(-)|cyanate ion|Cyanat|cyanate|Zyanat|nitridooxidocarbonate(1-)	http://purl.obolibrary.org/obo/CHEBI_29195		
HP:0003679	biolink:PhenotypicFeature	Pace of progression		UMLS:C4025580	mondo.json		http://purl.obolibrary.org/obo/HP_0003679		
HP:0003677	biolink:PhenotypicFeature	Slowly progressive	Applies to a disease manifestation that only slowly increases in scope or severity over the course of time.	UMLS:C1854494	mondo.json	Signs and symptoms worsen slowly with time|Slow progression|Slow disease progression|Slowly progressive disorder	http://purl.obolibrary.org/obo/HP_0003677		
UBERON:0005305	biolink:AnatomicalEntity	thyroid follicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005305		
HP:0001010	biolink:PhenotypicFeature	Hypopigmentation of the skin	A reduction of skin color related to a decrease in melanin production and deposition.	SNOMEDCT_US:18655006|SNOMEDCT_US:89031001|MSH:D017496|UMLS:C0162835|SNOMEDCT_US:201284005|SNOMEDCT_US:23006000	mondo.json	Hypopigmentation|Skin hypopigmentation|Patchy lightened skin|Hypopigmented skin	http://purl.obolibrary.org/obo/HP_0001010		
CHR:9606-chr17q24.2	biolink:NamedThing	17q24.2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr17q24.2		
UBERON:8440004	biolink:AnatomicalEntity	laminar subdivision of the cortex			mondo.json		http://purl.obolibrary.org/obo/UBERON_8440004		
HGNC:3748	biolink:NamedThing	FLG			mondo.json		http://identifiers.org/hgnc/3748		
HGNC:3756	biolink:NamedThing	FLNC			mondo.json		http://identifiers.org/hgnc/3756		
HGNC:3755	biolink:NamedThing	FLNB			mondo.json		http://identifiers.org/hgnc/3755		
HGNC:3754	biolink:NamedThing	FLNA			mondo.json		http://identifiers.org/hgnc/3754		
GO:0016070	biolink:NamedThing	RNA metabolic process	The cellular chemical reactions and pathways involving RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage.		mondo.json	RNA metabolism	http://purl.obolibrary.org/obo/GO_0016070		
GO:0065003	biolink:NamedThing	protein-containing complex assembly	The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex.		mondo.json	macromolecular complex assembly|cellular protein complex assembly|chaperone activity|cellular macromolecule complex assembly|cellular protein-containing complex assembly|protein complex formation|macromolecule complex assembly|protein complex assembly	http://purl.obolibrary.org/obo/GO_0065003		
GO:0065008	biolink:NamedThing	regulation of biological quality	Any process that modulates a qualitative or quantitative trait of a biological quality. A biological quality is a measurable attribute of an organism or part of an organism, such as size, mass, shape, color, etc.		mondo.json	regulation of biological attribute|regulation of biological characteristic	http://purl.obolibrary.org/obo/GO_0065008		
GO:0065009	biolink:NamedThing	regulation of molecular function	Any process that modulates the frequency, rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding.		mondo.json	regulation of a molecular function	http://purl.obolibrary.org/obo/GO_0065009		
GO:0004092	biolink:NamedThing	carnitine O-acetyltransferase activity	Catalysis of the reaction: acetyl-CoA + carnitine = (R)-O-acetylcarnitine + CoA.		mondo.json	carnitine acetyl coenzyme A transferase activity|carnitine acetyltransferase activity|acetylcarnitine transferase activity|carnitine O-acetyltransferase I activity|acetyl-CoA-carnitine O-acetyltransferase activity|CATC|acetyl-CoA:carnitine O-acetyltransferase activity|carnitine O-acetyltransferase II activity|carnitine-acetyl-CoA transferase activity|carnitine acetylase activity	http://purl.obolibrary.org/obo/GO_0004092		
GO:0065007	biolink:NamedThing	biological regulation	Any process that modulates a measurable attribute of any biological process, quality or function.		mondo.json	regulation	http://purl.obolibrary.org/obo/GO_0065007		
GO:0016068	biolink:NamedThing	type I hypersensitivity	An inflammatory response driven by antigen recognition by antibodies bound to Fc receptors on mast cells or basophils, occurring within minutes after exposure of a sensitized individual to the antigen, and leading to the release of a variety of inflammatory mediators such as histamines.		mondo.json	immediate hypersensitivity response	http://purl.obolibrary.org/obo/GO_0016068		
GO:0016064	biolink:NamedThing	immunoglobulin mediated immune response	An immune response mediated by immunoglobulins, whether cell-bound or in solution.		mondo.json	antibody-mediated immune response	http://purl.obolibrary.org/obo/GO_0016064		
GO:0016050	biolink:NamedThing	vesicle organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a vesicle.		mondo.json	vesicle organisation|vesicle organization and biogenesis	http://purl.obolibrary.org/obo/GO_0016050		
PATO:0001236	biolink:NamedThing	process quality	A quality which inheres in an process.		mondo.json	quality of a process|quality of process|relational quality of occurrent|quality of occurrent	http://purl.obolibrary.org/obo/PATO_0001236		
GO:0016042	biolink:NamedThing	lipid catabolic process	The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent.		mondo.json	lipolysis|lipid degradation|lipid catabolism|multicellular organism lipid catabolic process|lipid breakdown|multicellular organismal lipid catabolic process	http://purl.obolibrary.org/obo/GO_0016042		
GO:0016043	biolink:NamedThing	cellular component organization	A process that results in the assembly, arrangement of constituent parts, or disassembly of a cellular component.		mondo.json	cell organization and biogenesis|cellular component organisation in other organism|cellular component organisation at cellular level|cellular component organization in other organism|cell organisation|cellular component organization at cellular level	http://purl.obolibrary.org/obo/GO_0016043		
MONDO:0021582	biolink:Disease	lentigo	A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy.	NCIT:C3159|MESH:D007911|OMIM:150900|SCTID:402624000	mondo.json	lentiginosis|lentigines|lentigo	http://purl.obolibrary.org/obo/MONDO_0021582	http://identifiers.org/snomedct/402624000|NCIT:C3159|https://omim.org/entry/150900|http://identifiers.org/mesh/D007911	
MONDO:0021583	biolink:Disease	melanocytic skin neoplasm	A melanocytic neoplasm that involves the zone of skin.	NCIT:C7161|UMLS:C0349501	mondo.json	melanocytic skin neoplasm|melanocytic neoplasm of zone of skin|melanocytic neoplasm of skin|zone of skin melanocytic neoplasm|cutaneous melanocytic neoplasm	http://purl.obolibrary.org/obo/MONDO_0021583	NCIT:C7161|UMLS:C0349501	
NCBITaxon:1402491	biolink:OrganismalEntity	Pseudomonas aeruginosa CF5		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1402491		
MONDO:0021588	biolink:Disease	eyelid sebaceous gland carcinoma	A sebaceous gland carcinoma affecting the eyelid. It arises from the meibomian glands, glands of Zeis, or glands associated with the caruncle. It usually affects elderly women and is characterized by high rate of local recurrence, regional, and distant metastases.	NCIT:C134831|UMLS:C4525405	mondo.json	eyelid SGC|eyelid sebaceous gland carcinoma|carcinoma of sebaceous gland of eyelid|sebaceous gland carcinoma of the eyelid|sebaceous gland of eyelid carcinoma	http://purl.obolibrary.org/obo/MONDO_0021588	NCIT:C134831|UMLS:C4525405	
GO:0065010	biolink:NamedThing	extracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a lipid bilayer membrane and occurring outside the cell.		mondo.json	extracellular membrane-enclosed organelle	http://purl.obolibrary.org/obo/GO_0065010		
MONDO:0021580	biolink:Disease	neoplasm of jaw	A neoplasm (disease) that involves the jaw skeleton.	ICD9:239.89|SCTID:126634001	mondo.json	tumor of jaw skeleton|jaw skeleton neoplasm (disease)|neoplasm of jaw skeleton|jaw skeleton tumor|jaw skeleton neoplasm	http://purl.obolibrary.org/obo/MONDO_0021580	http://identifiers.org/snomedct/126634001	
MONDO:0021581	biolink:Disease	connective tissue neoplasm	Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue.	SCTID:126598008|ICD9:239.2|MESH:D009372|UMLS:C0027656	mondo.json	connective tissue tumor|connective tissue neoplasm|connective tissue neoplasms|tumor of connective tissue|tumour of connective tissue|neoplasm of connective tissues|neoplasm, connective tissue|neoplasm of connective tissue|connective tissue neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0021581	http://identifiers.org/snomedct/126598008|UMLS:C0027656|http://identifiers.org/mesh/D009372	
PATO:0001241	biolink:NamedThing	physical object quality	A quality which inheres in a continuant.		mondo.json	multiply inhering quality of a physical entity|monadic quality of an object|quality of continuant|quality of a continuant|monadic quality of continuant|quality of a single physical entity|quality of an object|monadic quality of a continuant	http://purl.obolibrary.org/obo/PATO_0001241		
MONDO:0021579	biolink:Disease	neoplasm of femur	A neoplasm (disease) that involves the femur.	SCTID:126583006|ICD9:239.2	mondo.json	neoplasm of femur|femur tumor|femur neoplasm|tumor of femur|femur neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0021579	http://identifiers.org/snomedct/126583006	
GO:0016051	biolink:NamedThing	carbohydrate biosynthetic process	The chemical reactions and pathways resulting in the formation of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y.		mondo.json	carbohydrate formation|anabolic carbohydrate metabolic process|anabolic carbohydrate metabolism|carbohydrate anabolism|carbohydrate biosynthesis|carbohydrate synthesis	http://purl.obolibrary.org/obo/GO_0016051		
GO:0031670	biolink:NamedThing	cellular response to nutrient	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nutrient stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0031670		
GO:0016052	biolink:NamedThing	carbohydrate catabolic process	The chemical reactions and pathways resulting in the breakdown of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y.		mondo.json	single-organism carbohydrate catabolic process|carbohydrate breakdown|carbohydrate catabolism|multicellular organismal carbohydrate catabolic process|carbohydrate degradation|catabolic carbohydrate metabolic process|catabolic carbohydrate metabolism	http://purl.obolibrary.org/obo/GO_0016052		
GO:0016053	biolink:NamedThing	organic acid biosynthetic process	The chemical reactions and pathways resulting in the formation of organic acids, any acidic compound containing carbon in covalent linkage.		mondo.json	organic acid formation|organic acid anabolism|organic acid biosynthesis|organic acid synthesis	http://purl.obolibrary.org/obo/GO_0016053		
GO:0016054	biolink:NamedThing	organic acid catabolic process	The chemical reactions and pathways resulting in the breakdown of organic acids, any acidic compound containing carbon in covalent linkage.		mondo.json	organic acid breakdown|organic acid catabolism|organic acid degradation	http://purl.obolibrary.org/obo/GO_0016054		
GO:0031669	biolink:NamedThing	cellular response to nutrient levels	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of nutrients.		mondo.json		http://purl.obolibrary.org/obo/GO_0031669		
GO:0031667	biolink:NamedThing	response to nutrient levels	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of nutrients.		mondo.json		http://purl.obolibrary.org/obo/GO_0031667		
GO:0031668	biolink:NamedThing	cellular response to extracellular stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an extracellular stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0031668		
MONDO:0033559	biolink:Disease	intellectual developmental disorder with seizures and language delay		OMIM:619000	mondo.json	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY|IDDSELD	http://purl.obolibrary.org/obo/MONDO_0033559	https://omim.org/entry/619000	
MONDO:0033558	biolink:Disease	autoinflammation, immune dysregulation, and eosinophilia		OMIM:618999	mondo.json	AIIDE|Atopic Dermatitis, Enteritis, Colitis, and Eosinophilia|AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA	http://purl.obolibrary.org/obo/MONDO_0033558	https://omim.org/entry/618999	
HP:0003826	biolink:PhenotypicFeature	Stillbirth	Death of the fetus in utero after at least 22 weeks of gestation.	SNOMEDCT_US:237364002|MSH:D005313|UMLS:C0595939|SNOMEDCT_US:276507005|MSH:D050497|UMLS:C0015927	mondo.json	Stillbirth|Late fetal death|Fetal demise|Stillborn|Fetal death|Foetal death	http://purl.obolibrary.org/obo/HP_0003826		
GO:0004046	biolink:NamedThing	aminoacylase activity	Catalysis of the reaction: an N-acyl-L-amino acid + H2O = a carboxylate + an L-amino acid.		mondo.json	L-aminoacylase activity|amido acid deacylase activity|histozyme activity|hippurase activity|dehydropeptidase II activity|N-acyl-L-amino-acid amidohydrolase activity|L-amino-acid acylase activity|acylase I activity|short acyl amidoacylase activity|long acyl amidoacylase activity|benzamidase activity|aminoacylase I activity|alpha-N-acylaminoacid hydrolase activity	http://purl.obolibrary.org/obo/GO_0004046		
MONDO:0033560	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 35		OMIM:619003	mondo.json	MC1DN35|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35	http://purl.obolibrary.org/obo/MONDO_0033560	https://omim.org/entry/619003	
MONDO:0033566	biolink:Disease	combined oxidative phosphorylation deficiency 48		OMIM:619012	mondo.json	COXPD48|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48	http://purl.obolibrary.org/obo/MONDO_0033566	https://omim.org/entry/619012	
MONDO:0033565	biolink:Disease	oocyte maturation defect 9		OMIM:619011	mondo.json	OOMD9|OOCYTE MATURATION DEFECT 9	http://purl.obolibrary.org/obo/MONDO_0033565	https://omim.org/entry/619011	
MONDO:0033564	biolink:Disease	oocyte maturation defect 8		OMIM:619009	mondo.json	OOMD8|OOCYTE MATURATION DEFECT 8	http://purl.obolibrary.org/obo/MONDO_0033564	https://omim.org/entry/619009	
MONDO:0033563	biolink:Disease	retinitis pigmentosa 90		OMIM:619007	mondo.json	RETINITIS PIGMENTOSA 90|RP90	http://purl.obolibrary.org/obo/MONDO_0033563	https://omim.org/entry/619007	
MONDO:0033562	biolink:Disease	neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia		OMIM:619005	mondo.json	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA|neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia|NEDDISH	http://purl.obolibrary.org/obo/MONDO_0033562	https://omim.org/entry/619005	
GO:0016020	biolink:NamedThing	membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.		mondo.json	membrane region|region of membrane|whole membrane	http://purl.obolibrary.org/obo/GO_0016020		
GO:0016021	biolink:NamedThing	integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.		mondo.json	integral to membrane|transmembrane	http://purl.obolibrary.org/obo/GO_0016021		
MONDO:0033561	biolink:Disease	deeah syndrome		OMIM:619004	mondo.json	Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities|DEEAH SYNDROME|DEEAH	http://purl.obolibrary.org/obo/MONDO_0033561	https://omim.org/entry/619004	
MONDO:0033569	biolink:Disease	combined oxidative phosphorylation deficiency 49		OMIM:619024	mondo.json	COXPD49|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49	http://purl.obolibrary.org/obo/MONDO_0033569	https://omim.org/entry/619024	
MONDO:0033571	biolink:Disease	obsolete skeletal muscle glycogen content and metabolism quantitative trait locus		OMIM:619030	mondo.json	SMGMQTL|Skeletal muscle glycogen content and metabolism QTL|SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS	http://purl.obolibrary.org/obo/MONDO_0033571	https://omim.org/entry/619030	
MONDO:0033570	biolink:Disease	combined oxidative phosphorylation deficiency 50		OMIM:619025	mondo.json	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50|COXPD50	http://purl.obolibrary.org/obo/MONDO_0033570	https://omim.org/entry/619025	
RO:0001025	biolink:NamedThing	located in	a relation between two independent continuants, the target and the location, in which the target is entirely within the location		mondo.json		http://purl.obolibrary.org/obo/RO_0001025		
MONDO:0033572	biolink:Disease	intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies		OMIM:619031	mondo.json	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES|IDDEBF	http://purl.obolibrary.org/obo/MONDO_0033572	https://omim.org/entry/619031	
GO:0004029	biolink:NamedThing	aldehyde dehydrogenase (NAD+) activity	Catalysis of the reaction: an aldehyde + NAD+ + H2O = an acid + NADH + H+.		mondo.json	NAD-linked aldehyde dehydrogenase activity|NAD-aldehyde dehydrogenase activity|NAD-dependent aldehyde dehydrogenase activity|aldehyde:NAD+ oxidoreductase activity|m-methylbenzaldehyde dehydrogenase activity|CoA-independent aldehyde dehydrogenase activity|propionaldehyde dehydrogenase activity|NAD-dependent 4-hydroxynonenal dehydrogenase activity|aldehyde dehydrogenase (NAD+)	http://purl.obolibrary.org/obo/GO_0004029		
GO:0031645	biolink:NamedThing	negative regulation of nervous system process	Any process that stops, prevents, or reduces the frequency, rate or extent of a neurophysiological process.		mondo.json	negative regulation of neurophysiological process|negative regulation of neurological system process|downregulation of neurological process|down regulation of neurological process|inhibition of neurological process|down-regulation of neurological process|negative regulation of neurological process	http://purl.obolibrary.org/obo/GO_0031645		
GO:0031646	biolink:NamedThing	positive regulation of nervous system process	Any process that activates or increases the frequency, rate or extent of a neurophysiological process.		mondo.json	positive regulation of neurological process|positive regulation of neurological system process|up regulation of neurological process|stimulation of neurological process|up-regulation of neurological process|activation of neurological process|positive regulation of neurophysiological process|upregulation of neurological process	http://purl.obolibrary.org/obo/GO_0031646		
GO:0031643	biolink:NamedThing	positive regulation of myelination	Any process that activates or increases the frequency, rate or extent of the formation of a myelin sheath around nerve axons.		mondo.json	up regulation of myelination|activation of myelination|stimulation of myelination|upregulation of myelination|up-regulation of myelination	http://purl.obolibrary.org/obo/GO_0031643		
GO:0031644	biolink:NamedThing	regulation of nervous system process	Any process that modulates the frequency, rate or extent of a neurophysiological process, an organ system process carried out by any of the organs or tissues of the nervous system.		mondo.json	regulation of neurological process|regulation of neurological system process|regulation of neurophysiological process	http://purl.obolibrary.org/obo/GO_0031644		
HP:0003808	biolink:PhenotypicFeature	Abnormal muscle tone		UMLS:C0852413	mondo.json	Abnormal muscle tone	http://purl.obolibrary.org/obo/HP_0003808		
RO:0001018	biolink:NamedThing	contained in			mondo.json		http://purl.obolibrary.org/obo/RO_0001018		
RO:0001019	biolink:NamedThing	contains			mondo.json		http://purl.obolibrary.org/obo/RO_0001019		
RO:0001015	biolink:NamedThing	location of	a relation between two independent continuants, the location and the target, in which the target is entirely within the location		mondo.json		http://purl.obolibrary.org/obo/RO_0001015		
GO:0031641	biolink:NamedThing	regulation of myelination	Any process that modulates the frequency, rate or extent of the formation of a myelin sheath around nerve axons.		mondo.json		http://purl.obolibrary.org/obo/GO_0031641		
GO:0031642	biolink:NamedThing	negative regulation of myelination	Any process that stops, prevents, or reduces the frequency, rate or extent of the formation of a myelin sheath around nerve axons.		mondo.json	down-regulation of myelination|down regulation of myelination|inhibition of myelination|downregulation of myelination	http://purl.obolibrary.org/obo/GO_0031642		
GO:0006699	biolink:NamedThing	bile acid biosynthetic process	The chemical reactions and pathways resulting in the formation of bile acids, any of a group of steroid carboxylic acids occurring in bile.		mondo.json	bile acid anabolism|bile acid synthesis|bile acid biosynthesis|bile acid formation	http://purl.obolibrary.org/obo/GO_0006699		
GO:0006694	biolink:NamedThing	steroid biosynthetic process	The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification.		mondo.json	steroidogenesis|steroid anabolism|steroid biosynthesis|steroid synthesis|steroid formation	http://purl.obolibrary.org/obo/GO_0006694		
GO:0006695	biolink:NamedThing	cholesterol biosynthetic process	The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones.		mondo.json	cholesterol anabolism|cholesterol synthesis|cholesterol formation|cholesterol biosynthesis	http://purl.obolibrary.org/obo/GO_0006695		
GO:0004030	biolink:NamedThing	aldehyde dehydrogenase [NAD(P)+] activity	Catalysis of the reaction: an aldehyde + NAD(P)+ + H2O = an acid + NAD(P)H + H+.		mondo.json	aldehyde:NAD(P)+ oxidoreductase activity|ALDH	http://purl.obolibrary.org/obo/GO_0004030		
GO:0016011	biolink:NamedThing	dystroglycan complex	A protein complex that includes alpha- and beta-dystroglycan, which are alternative products of the same gene; the laminin-binding component of the dystrophin-associated glycoprotein complex, providing a link between the subsarcolemmal cytoskeleton (in muscle cells) and the extracellular matrix. Alpha-dystroglycan is an extracellular protein binding to alpha-laminin and to beta-dystroglycan; beta-dystroglycan is a transmembrane protein which binds alpha-dystroglycan and dystrophin.		mondo.json		http://purl.obolibrary.org/obo/GO_0016011		
GO:0016012	biolink:NamedThing	sarcoglycan complex	A protein complex formed of four sarcoglycans plus sarcospan; there are six known sarcoglycans: alpha-, beta-, gamma-, delta-, epsilon- and zeta-sarcoglycan; all are N-glycosylated single-pass transmembrane proteins. The sarcoglycan-sarcospan complex is a subcomplex of the dystrophin glycoprotein complex, and is fixed to the dystrophin axis by a lateral association with the dystroglycan complex.		mondo.json	sarcoglycan-sarcospan complex	http://purl.obolibrary.org/obo/GO_0016012		
GO:0016010	biolink:NamedThing	dystrophin-associated glycoprotein complex	A multiprotein complex that forms a strong mechanical link between the cytoskeleton and extracellular matrix; typical of, but not confined to, muscle cells. The complex is composed of transmembrane, cytoplasmic, and extracellular proteins, including dystrophin, sarcoglycans, dystroglycan, dystrobrevins, syntrophins, sarcospan, caveolin-3, and NO synthase.		mondo.json	dystrophin glycoprotein complex|DGC	http://purl.obolibrary.org/obo/GO_0016010		
MONDO:0021530	biolink:Disease	benign neoplasm of subglottis	A benign neoplasm that involves the subglottis.	SCTID:92412003|UMLS:C0345749|NCIT:C4427	mondo.json	benign subglottis neoplasm|benign subglottic neoplasm|subglottis benign neoplasm|benign tumor of subglottis|benign tumor of the subglottis|benign neoplasm of the subglottis|benign subglottic tumor|benign subglottis tumor	http://purl.obolibrary.org/obo/MONDO_0021530	http://identifiers.org/snomedct/92412003|NCIT:C4427|UMLS:C0345749	
MONDO:0021531	biolink:Disease	fibroma of lung	A fibroma that involves the lung.	SCTID:707387004|NCIT:C5658|UMLS:C1334444	mondo.json	fibroma of the lung|lung fibroma|pulmonary fibroma	http://purl.obolibrary.org/obo/MONDO_0021531	http://identifiers.org/snomedct/707387004|NCIT:C5658|UMLS:C1334444	
MONDO:0021532	biolink:Disease	fibroma of prostate	A fibroma that involves the prostate gland.	UMLS:C0268885|ICD9:600.20|SCTID:47014000|NCIT:C3972	mondo.json	prostate fibroma|prostate gland fibroma|fibroma of the prostate	http://purl.obolibrary.org/obo/MONDO_0021532	http://identifiers.org/snomedct/47014000|NCIT:C3972|UMLS:C0268885	
MONDO:0008559	biolink:Disease	thrombophilia due to thrombin defect	The formation of a blood clot (thrombus) in the lumen of a vein.	GARD:0010815|ICD9:453.9|SCTID:111293003|OMIM:188050	mondo.json	hyperprothrombinemia|thrombophilia 1 due to thrombin defect|prothrombin 20210G>A thrombophilia|factor II-related thrombophilia|THPH1|Venous thromboembolism|prothrombin G20210A thrombophilia|thrombophilia due to Factor 2 defect|venous thromboembolism, susceptibility to|prothrombin thrombophilia|venous thrombosis|thromboembolism, susceptibility to|prothrombin-related thrombophilia|venous thrombosis, protection against|thrombosis, protection against|thrombophilia due to thrombin defect	http://purl.obolibrary.org/obo/MONDO_0008559	http://identifiers.org/snomedct/111293003|https://omim.org/entry/188050	
MONDO:0021533	biolink:Disease	intestinal neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	UMLS:C0349535|NCIT:C4637|OMIM:114900|SCTID:276816003|MESH:C562842	mondo.json	carcinoid tumor of the intestine|intestinal carcinoid tumor|carcinoid tumor of intestine|intestine neuroendocrine neoplasm G1|intestinal NET G1|intestine carcinoid tumor|intestine NET G1|grade 1 neuroendocrine neoplasm of intestine|intestine carcinoid tumor (disease)|intestinal neuroendocrine tumor G1|intestine neuroendocrine tumor, well differentiated, low grade	http://purl.obolibrary.org/obo/MONDO_0021533	UMLS:C0349535|http://identifiers.org/mesh/C562842|NCIT:C4637|https://omim.org/entry/114900|http://identifiers.org/snomedct/276816003	
MONDO:0008558	biolink:Disease	autoimmune thrombocytopenic purpura	An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin.	DOID:8924|Orphanet:3002|GARD:0005194|OMIM:188030|MedDRA:10021245|EFO:0007160|ICD9:287.31|NCIT:C3446	mondo.json	thrombocytopenic purpura, autoimmune|AITP|idiopathic thrombocytopenic purpura|idiopathic purpura|Werlhof's disease|immune thrombocytopenia|primary thrombocytopenic purpura|autoimmune thrombocytopenic purpura|ideopath thrombocytopenic pur|ITP|immune thrombocytopenic purpura|idiopathic thrombocytopenia purpura|idiopathic thrombocytopenia|thrombocytopenic purpura autoimmune	http://purl.obolibrary.org/obo/MONDO_0008558	Orphanet:3002|NCIT:C3446|DOID:8924|https://omim.org/entry/188030	ordo_disease
MONDO:0021534	biolink:Disease	rectal neuroendocrine tumor G1	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	SCTID:713306000|UMLS:C1335678|NCIT:C5547	mondo.json	carcinoid of rectum|carcinoid tumor of rectum|carcinoid of the rectum|rectum neuroendocrine tumor, well differentiated, low grade|carcinoid tumor of the rectum|rectal neuroendocrine tumor G1|rectal carcinoid|rectum carcinoid tumor (disease)|rectal carcinoid tumor|rectum neuroendocrine neoplasm G1|grade 1 neuroendocrine neoplasm of rectum|rectum carcinoid tumor|rectum NET G1|rectal NET G1	http://purl.obolibrary.org/obo/MONDO_0021534	NCIT:C5547|UMLS:C1335678|http://identifiers.org/snomedct/713306000	
MONDO:0008557	biolink:Disease	Paris-Trousseau thrombocytopenia	Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.	OMIM:188025|UMLS:C1956093|UMLS:C1861178|OMIM:617443|Orphanet:851|GARD:0004224	mondo.json	Paris-Trousseau syndrome|thrombocytopenia, Paris-Trousseau type, Isolated cases|chromosome 11q23 deletion syndrome|thrombocytopenia, Paris-TROUSSEAU type|TCPT|thrombocytopenia Paris-Trousseau type	http://purl.obolibrary.org/obo/MONDO_0008557	https://omim.org/entry/188025|Orphanet:851|UMLS:C1956093	ordo_disease|gard_rare
MONDO:0008556	biolink:Disease	thrombocytopenia, cyclic		UMLS:C0272282|GARD:0009862|SCTID:48788004|ICD9:287.39|MESH:C536899|OMIM:188020	mondo.json	thrombocytopenia cyclic|thrombocytopenia, cyclic|cyclic thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0008556	UMLS:C0272282|http://identifiers.org/snomedct/48788004|https://omim.org/entry/188020|http://identifiers.org/mesh/C536899	gard_rare
RO:0001000	biolink:NamedThing	derives from	a relation between two distinct material entities, the new entity and the old entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity		mondo.json		http://purl.obolibrary.org/obo/RO_0001000		
MONDO:0008555	biolink:Disease	thrombocytopenia 2	An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability.	MESH:C536519|OMIM:188000|GARD:0005191|NCIT:C129035	mondo.json	thrombocytopenia, autosomal dominant, 2|thrombocytopenia autosomal dominant 2|thrombocytopenia type 2|thrombocytopenia 2|THC2	http://purl.obolibrary.org/obo/MONDO_0008555	NCIT:C129035|https://omim.org/entry/188000|http://identifiers.org/mesh/C536519	gard_rare
RO:0001001	biolink:NamedThing	derives into	a relation between two distinct material entities, the old entity and the new entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity		mondo.json		http://purl.obolibrary.org/obo/RO_0001001		
MONDO:0008554	biolink:Disease	thrombocythemia 1		UMLS:C3277671|OMIM:187950|Orphanet:71493	mondo.json	thrombocytosis 1|THCYT1|thrombocythemia 1|thrombocythemia type 1|thrombocythemia, somatic	http://purl.obolibrary.org/obo/MONDO_0008554	UMLS:C3277671|https://omim.org/entry/187950	
CL:0019020	biolink:Cell	extrahepatic cholangiocyte	An epithelial cell of the extrahepatic bile ducts, including the left and right hepatic duct, common hepatic duct, and common bile duct. They are columnar in shape, and have a large nuclear-to-cytoplasmic ratio relative to small/intrahepatic cholangiocytes.		mondo.json	large bile duct cholangiocyte	http://purl.obolibrary.org/obo/CL_0019020		
MONDO:0008553	biolink:Disease	platelet-type bleeding disorder 17	An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function.	MESH:C566060|NCIT:C142084|OMIM:187900|DOID:0111049	mondo.json	bleeding disorder, platelet-type, 17|hereditary thrombasthenia-thrombocytopenia|thrombasthenia-thrombocytopenia, hereditary|inherited bleeding disorder, platelet-type caused by mutation in GFI1B|GFI1B inherited bleeding disorder, platelet-type|platelet-type bleeding disorder 17|bleeding disorder, platelet-type 17|BDPLT17	http://purl.obolibrary.org/obo/MONDO_0008553	http://identifiers.org/mesh/C566060|DOID:0111049|NCIT:C142084|https://omim.org/entry/187900	
MONDO:0008552	biolink:Disease	platelet-type bleeding disorder 16	An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.	MESH:C566061|Orphanet:140957|OMIM:187800|UMLS:C1861195|DOID:0060691	mondo.json	bleeding disorder, platelet-type, 16|Glanzmann thrombasthenia, autosomal dominant|autosomal dominant Glanzmann thrombasthenia|autosomal dominant thrombasthenia of Glanzmann and Naegeli|thrombasthenia of Glanzmann and Naegeli, autosomal dominant|bleeding disorder, platelet-type, 16, autosomal dominant|BDPLT16|platelet-type bleeding disorder 16	http://purl.obolibrary.org/obo/MONDO_0008552	UMLS:C1861195|http://identifiers.org/mesh/C566061|https://omim.org/entry/187800|DOID:0060691	
MONDO:0008551	biolink:Disease	thoracolaryngopelvic dysplasia	A short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis.	OMIM:187760|MESH:C536517|GARD:0005184|OMIM:187770|UMLS:C1861197|Orphanet:3317|SCTID:723556008	mondo.json	TLPD|THORACOPELVIC dysostosis|THORACOLARYNGOPELVIC dysplasia|thoracolaryngopelvic dysplasia|Barnes syndrome|autosomal dominant thoracolaryngopelvic dysplasia	http://purl.obolibrary.org/obo/MONDO_0008551	Orphanet:3317|UMLS:C1861197|http://identifiers.org/mesh/C536517|http://identifiers.org/snomedct/723556008|https://omim.org/entry/187770|https://omim.org/entry/187760	ordo_malformation_syndrome
MONDO:0008550	biolink:Disease	obsolete thoracolaryngopelvic dysplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008550		
HGNC:1062	biolink:NamedThing	BLVRA			mondo.json		http://identifiers.org/hgnc/1062		
MONDO:0021524	biolink:Disease	benign neoplasm of buccal mucosa	A benign neoplasm that involves the buccal mucosa.	UMLS:C0345566|ICD9:210.4|SCTID:92039003|NCIT:C4406	mondo.json	benign buccal mucosa neoplasm|benign neoplasm of the buccal mucosa|benign tumor of the buccal mucosa|benign buccal mucosa tumor|buccal mucosa benign neoplasm|benign tumor of buccal mucosa	http://purl.obolibrary.org/obo/MONDO_0021524	UMLS:C0345566|http://identifiers.org/snomedct/92039003|NCIT:C4406	
MONDO:0021525	biolink:Disease	benign neoplasm of corpus uteri	A benign neoplasm that involves the body of uterus.	ICD9:219.1|NCIT:C3608|UMLS:C0153998|SCTID:92021007	mondo.json	benign corpus uteri neoplasm|benign tumor of body of uterus|benign tumor of corpus uteri|benign tumor of the body of uterus|benign tumor of the corpus uteri|benign tumor of uterine corpus|benign neoplasm of body of uterus|benign tumor of the uterine corpus|benign neoplasm of the corpus uteri|benign corpus uteri tumor|benign neoplasm of the body of uterus|benign neoplasm of uterine corpus|benign uterine corpus tumor|benign neoplasm of the uterine corpus|benign uterine body neoplasm|body of uterus benign neoplasm|benign tumor of uterine body|benign tumor of the uterine body|benign neoplasm of uterine body|benign neoplasm of the uterine body|benign uterine body tumor|benign uterine corpus neoplasm	http://purl.obolibrary.org/obo/MONDO_0021525	NCIT:C3608|UMLS:C0153998|http://identifiers.org/snomedct/92021007	
HGNC:1069	biolink:NamedThing	BMP2			mondo.json		http://identifiers.org/hgnc/1069		
MONDO:0021527	biolink:Disease	benign neoplasm of meninges	A benign neoplasm that involves the meningeal cluster.	ICD10CM:D32|UMLS:C0348426|SCTID:109913001|NCIT:C4957	mondo.json	benign neoplasm of the meninges|benign meninges tumor|benign neoplasms of meninges|benign neoplasms of the meninges|benign meninges neoplasm|meningeal cluster benign neoplasm|benign meningeal neoplasm|benign meningeal tumors|meningeal tumors, benign|benign meningeal tumor|benign tumor of meninges|benign tumor of the meninges|benign meningeal neoplasms	http://purl.obolibrary.org/obo/MONDO_0021527	NCIT:C4957|http://purl.bioontology.org/ontology/ICD10CM/D32|http://identifiers.org/snomedct/109913001|UMLS:C0348426	
CHEBI:91007	biolink:ChemicalSubstance	aromatic carboxylate	A carboxylic acic anion obtained by deprotonation of the carboxy group of any aromatic carboxylic acid. Major species at pH 7.3.		mondo.json	an aromatic carboxylate	http://purl.obolibrary.org/obo/CHEBI_91007		
MONDO:0021528	biolink:Disease	benign neoplasm of male breast	A non-metastasizing neoplasm that arises from the breast parenchyma in males.	NCIT:C4620|UMLS:C0347482|SCTID:92206006	mondo.json	male breast benign neoplasm|benign neoplasm of the Male breast|benign Male breast tumor|benign tumor of the Male breast|benign tumor of Male breast|benign Male breast neoplasm	http://purl.obolibrary.org/obo/MONDO_0021528	NCIT:C4620|http://identifiers.org/snomedct/92206006|UMLS:C0347482	
HGNC:1067	biolink:NamedThing	BMP1			mondo.json		http://identifiers.org/hgnc/1067		
MONDO:0021529	biolink:Disease	benign neoplasm of chest wall	A benign neoplasm that involves the chest wall.	NCIT:C8529|SCTID:92058007|ICD9:229.8|UMLS:C0684831	mondo.json	chest wall benign neoplasm|benign tumor of chest wall|benign tumor of the chest wall|benign neoplasm of the chest wall|benign chest wall tumor|benign chest wall neoplasm	http://purl.obolibrary.org/obo/MONDO_0021529	NCIT:C8529|http://identifiers.org/snomedct/92058007|UMLS:C0684831	
HGNC:1068	biolink:NamedThing	BMP15			mondo.json		http://identifiers.org/hgnc/1068		
HGNC:18475	biolink:NamedThing	ZDHHC9			mondo.json		http://identifiers.org/hgnc/18475		
HGNC:18483	biolink:NamedThing	LIPH			mondo.json		http://identifiers.org/hgnc/18483		
CL:0019019	biolink:Cell	tracheobronchial smooth muscle cell	A smooth muscle cell that is part of the tracheobronchial tree.		mondo.json	smooth muscle cell of tracheobronchial tree	http://purl.obolibrary.org/obo/CL_0019019		
CL:0019018	biolink:Cell	blood vessel smooth muscle cell	A smooth muscle cell that is part of any blood vessel.		mondo.json	smooth muscle cell of blood vessel	http://purl.obolibrary.org/obo/CL_0019018		
HGNC:18481	biolink:NamedThing	ATP6V0A2			mondo.json		http://identifiers.org/hgnc/18481		
CL:0019017	biolink:Cell	lymphatic vessel smooth muscle cell	A smooth muscle cell that is part of any lymphatic vessel.		mondo.json	smooth muscle cell of lymphatic vessel	http://purl.obolibrary.org/obo/CL_0019017		
MONDO:0021520	biolink:Disease	benign neoplasm of floor of mouth	A benign neoplasm that involves the mouth floor.	NCIT:C3593|ICD9:210.3|ICD10CM:D10.2|SCTID:92109005|UMLS:C0153934	mondo.json	benign tumor of floor of mouth|benign tumor of the floor of the mouth|benign neoplasm of the floor of the mouth|benign floor of the mouth tumor|benign floor of mouth tumor|mouth floor benign neoplasm|benign floor of mouth neoplasm|benign floor of the mouth neoplasm	http://purl.obolibrary.org/obo/MONDO_0021520	http://identifiers.org/snomedct/92109005|http://purl.bioontology.org/ontology/ICD10CM/D10.2|UMLS:C0153934|NCIT:C3593	
MONDO:0021521	biolink:Disease	benign neoplasm of mediastinum	A benign neoplasm that involves the mediastinum.	ICD9:212.5|ICD10CM:D15.2|UMLS:C0153956|NCIT:C3604|SCTID:92214000	mondo.json	benign mediastinal neoplasm|benign mediastinal tumor|benign neoplasm of the mediastinum|benign tumor of the mediastinum|mediastinum benign neoplasm|benign tumor of mediastinum	http://purl.obolibrary.org/obo/MONDO_0021521	http://identifiers.org/snomedct/92214000|http://purl.bioontology.org/ontology/ICD10CM/D15.2|NCIT:C3604|UMLS:C0153956	
MONDO:0021522	biolink:Disease	benign neoplasm of lower jaw bone	A benign neoplasm that involves the bone of lower jaw.	ICD10CM:D16.5|UMLS:C0004994|ICD9:213.1|SCTID:92208007|NCIT:C34417	mondo.json	bone of lower jaw benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021522	NCIT:C34417|http://purl.bioontology.org/ontology/ICD10CM/D16.5|http://identifiers.org/snomedct/92208007|UMLS:C0004994	
MONDO:0008569	biolink:Disease	thyroid hormone resistance, generalized, autosomal dominant		MESH:C567934|UMLS:C2937288|OMIM:188570	mondo.json	hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones|GRTH|Gthr|thyroid hormone unresponsiveness|thyroid hormone resistance|thyroid hormone resistance, generalized, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008569	UMLS:C2937288|http://identifiers.org/mesh/C567934|https://omim.org/entry/188570	
MONDO:0021523	biolink:Disease	benign neoplasm of pharynx	A benign neoplasm that involves the pharynx.	ICD9:210.9|NCIT:C3597|UMLS:C0153940|SCTID:92293007	mondo.json	benign pharynx neoplasm|pharynx benign neoplasm|pharyngeal neoplasm benign|benign pharyngeal neoplasm|benign pharyngeal tumor|benign neoplasm of the pharynx|benign pharynx tumor|benign tumor of the pharynx|benign tumor of pharynx	http://purl.obolibrary.org/obo/MONDO_0021523	http://identifiers.org/snomedct/92293007|NCIT:C3597|UMLS:C0153940	
MONDO:0008568	biolink:Disease	thyroid hormone plasma membrane transport defect		GARD:0008499|MESH:C536916|OMIM:188560|UMLS:C1861101	mondo.json	defect|thyroid hormone plasma membrane transport defect|hyperthyroxinemia, Eumetabolic, due to T4 plasma Membrane Transport|thyroid hormone resistance due to T4 plasma Membrane Transport defect	http://purl.obolibrary.org/obo/MONDO_0008568	UMLS:C1861101|https://omim.org/entry/188560|http://identifiers.org/mesh/C536916	gard_rare
MONDO:0008567	biolink:Disease	thyroid cancer, nonmedullary, 1		OMIM:188550|Orphanet:319487	mondo.json	thyroid cancer, nonmedullary, type 1|nonmedullary thyroid carcinoma, papillary|familial nonmedullary thyroid cancer, papillary|papillary carcinoma of thyroid|NMTC1|thyroid cancer, nonmedullary, 1	http://purl.obolibrary.org/obo/MONDO_0008567	https://omim.org/entry/188550	
MONDO:0008566	biolink:Disease	thyroid cancer, nonmedullary, 2		GARD:0005206|OMIM:188470|MESH:C572845	mondo.json	thyroid cancer, nonmedullary, 2, autosomal dominant, somatic mutation|thyroid carcinoma, follicular|FTC|thyroid carcinoma, follicular, autosomal dominant, somatic mutation|thyroid cancer, nonmedullary, 2|thyroid carcinoma, follicular, somatic|thyroid cancer, follicular|thyroid cancer, nonmedullary, type 2|NMTC2	http://purl.obolibrary.org/obo/MONDO_0008566	http://identifiers.org/mesh/C572845|https://omim.org/entry/188470	
MONDO:0008565	biolink:Disease	familial thyroglossal duct cyst	Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck.	OMIM:188455|GARD:0005204|SCTID:717331000|MESH:C536909|UMLS:C3495590|Orphanet:93953	mondo.json	thyroglossal duct cysts|hereditary thyroglossal duct cyst|thyroglossal duct cysts familial|hereditary thyroglossal duct cysts|thyroglossal duct cyst, familial	http://purl.obolibrary.org/obo/MONDO_0008565	Orphanet:93953|UMLS:C3495590|https://omim.org/entry/188455|http://identifiers.org/mesh/C536909|http://identifiers.org/snomedct/717331000	gard_rare|ordo_morphological_anomaly
MONDO:0008564	biolink:Disease	DiGeorge syndrome	A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.	DOID:11198|UMLS:CN734570|MESH:D004062|ICD9:279.11|OMIM:188400|SCTID:77128003|GTR:AN1145678|NCIT:C2989	mondo.json	velo-cardio-facial syndrome|pharyngeal pouch syndrome|chromosome 22Q11.2 deletion syndrome|DGS|Sphrintzen|VCF|DiGeorge syndrome type 1|Takao VCF syndrome|DiGeorge syndrome|third and fourth pharyngeal pouch syndrome|Catch22|DGS1|hypoplasia of thymus and parathyroids|Shprintzen syndrome|22q deletion syndrome(s)|DiGeorge syndrome chromosome region|22q11.2 Deletion syndrome|velocardiofacial syndrome|DiGeorge anomaly|Di-George syndrome|DiGeorge's syndrome	http://purl.obolibrary.org/obo/MONDO_0008564	NCIT:C2989|https://omim.org/entry/188400|DOID:11198|UMLS:CN734570|http://identifiers.org/mesh/D004062|http://identifiers.org/snomedct/77128003	
MONDO:0008563	biolink:Disease	thumb stiffness-brachydactyly-intellectual disability syndrome	Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case.	OMIM:188201|Orphanet:1078|GARD:0004375|GARD:0005200	mondo.json	Thumb ankylosis with mental retardation|thumb stiff brachydactyly mental retardation|Piussan-Lenaerts-Mathieu syndrome|thumbs, STIFF, with brachydactyly type A1 and developmental delay|thumb stiff brachydactyly intellectual disability|Thumb ankylosis with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0008563	Orphanet:1078|https://omim.org/entry/188201	gard_rare|ordo_malformation_syndrome
MONDO:0008562	biolink:Disease	thumb deformity-alopecia-pigmentation anomaly syndrome	Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.	Orphanet:2251|UMLS:C2931366|OMIM:188150|MESH:C566054|GARD:0005199	mondo.json	congenital deformity of the thumb and congenital alopecia|thumb deformity, alopecia, pigmentation anomaly|sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation|hypotrichosis associated with congenital hypoplasia of the thumb|thumb deformity and alopecia	http://purl.obolibrary.org/obo/MONDO_0008562	Orphanet:2251|http://identifiers.org/mesh/C566054|https://omim.org/entry/188150|UMLS:C2931366	ordo_malformation_syndrome
MONDO:0008561	biolink:Disease	thumb deformity		MESH:C536903|HP:0001172|GARD:0008482|OMIM:188100	mondo.json	thumb absent or hypoplastic|thumb deformity|thumb hypoplastic|thumb deformity (disease)	http://purl.obolibrary.org/obo/MONDO_0008561	https://omim.org/entry/188100|http://identifiers.org/mesh/C536903	
MONDO:0008560	biolink:Disease	thrombophilia due to activated protein C resistance	A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance.	ICD9:289.81|UMLS:C1861171|OMIM:188055|SCTID:421527008|MESH:D020016	mondo.json	APC resistance|thrombophilia, susceptibility to, due to factor V Leiden|thrombophilia due to deficiency of Activated Protein C cofactor|THPH2|thrombophilia due to ACTIVATED PROTEIN C resistance|thrombophilia due to activated protein C resistance|thrombophilia due to Factor 5 Leiden|Proc cofactor deficiency|Pccf deficiency|thrombophilia 2 due to activated protein C resistance|Activated Protein C resistance|thrombophilia 5|resistance, APC	http://purl.obolibrary.org/obo/MONDO_0008560	UMLS:C1861171|https://omim.org/entry/188055|http://identifiers.org/snomedct/421527008|http://identifiers.org/mesh/D020016	
NCBITaxon:222543	biolink:OrganismalEntity	Hypocreomycetidae		PMID:17572334|GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_222543		
NCBITaxon:222544	biolink:OrganismalEntity	Sordariomycetidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_222544		
HGNC:1071	biolink:NamedThing	BMP4			mondo.json		http://identifiers.org/hgnc/1071		
NCBITaxon:222545	biolink:OrganismalEntity	Xylariomycetidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_222545		
GO:0043624	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0043624		
MONDO:0021513	biolink:Disease	benign neoplasm of tonsil	A benign neoplasm that involves the tonsil.	SCTID:92263001|ICD9:210.5|NCIT:C3594|ICD10CM:D10.4|UMLS:C0153936	mondo.json	benign tonsil neoplasm|benign tonsillar neoplasm|tonsillar neoplasm, benign|benign tumor of tonsil|benign tumor of the tonsil|benign tonsillar tumor|tonsil benign neoplasm|benign neoplasm of the tonsil|benign tonsil tumor	http://purl.obolibrary.org/obo/MONDO_0021513	UMLS:C0153936|NCIT:C3594|http://identifiers.org/snomedct/92263001|http://purl.bioontology.org/ontology/ICD10CM/D10.4	
MONDO:0021514	biolink:Disease	benign neoplasm of pericardium	A benign neoplasm that involves the pericardium.	NCIT:C8536|UMLS:C0685118|SCTID:92289001	mondo.json	benign pericardial tumor|benign neoplasm of the pericardium|benign pericardial neoplasm|benign tumor of the pericardium|benign tumor of pericardium|pericardium benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021514	http://identifiers.org/snomedct/92289001|UMLS:C0685118|NCIT:C8536	
MONDO:0033534	biolink:Disease	combined oxidative phosphorylation deficiency 46		OMIM:618952	mondo.json	combined oxidative phosphorylation defiency 46|COXPD46|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46	http://purl.obolibrary.org/obo/MONDO_0033534	https://omim.org/entry/618952	
MONDO:0021515	biolink:Disease	benign neoplasm of ethmoidal sinus	A benign neoplasm that involves the ethmoid sinus.	SCTID:92093000|ICD9:212.0|UMLS:C0345670|NCIT:C4417	mondo.json	benign neoplasm of the ethmoid sinus|benign neoplasm of ethmoid sinus|benign ethmoid sinus tumor|benign tumor of the ethmoid sinus|benign tumor of ethmoid sinus|ethmoid sinus benign neoplasm|benign neoplasm of the ethmoidal sinus|benign tumor of the ethmoidal sinus|benign ethmoidal sinus neoplasm|benign ethmoidal sinus tumor|benign tumor of ethmoidal sinus|benign ethmoid sinus neoplasm	http://purl.obolibrary.org/obo/MONDO_0021515	UMLS:C0345670|http://identifiers.org/snomedct/92093000|NCIT:C4417	
MONDO:0033533	biolink:Disease	combined oxidative phosphorylation deficiency 45		OMIM:618951	mondo.json	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45|COXPD45	http://purl.obolibrary.org/obo/MONDO_0033533	https://omim.org/entry/618951	
MONDO:0033532	biolink:Disease	Suleiman-El-Hattab syndrome		OMIM:618950	mondo.json	SULEHS|SULEIMAN-EL-HATTAB SYNDROME	http://purl.obolibrary.org/obo/MONDO_0033532	https://omim.org/entry/618950	
MONDO:0021516	biolink:Disease	benign neoplasm of glottis	A benign neoplasm that involves the glottis.	SCTID:92123007|UMLS:C0347234|NCIT:C4605	mondo.json	benign glottis neoplasm|benign neoplasm of the glottis|benign glottis tumor|benign tumor of the glottis|glottis benign neoplasm|benign tumor of glottis	http://purl.obolibrary.org/obo/MONDO_0021516	NCIT:C4605|http://identifiers.org/snomedct/92123007|UMLS:C0347234	
MONDO:0021517	biolink:Disease	benign neoplasm of trachea	A benign neoplasm that involves the trachea.	NCIT:C3602|ICD9:212.2|ICD10CM:D14.2|UMLS:C0153953|SCTID:92446002	mondo.json	benign tracheal neoplasm|benign tracheal tumor|benign trachea neoplasm|benign neoplasm of the trachea|benign trachea tumor|benign tumor of the trachea|benign tumor of trachea|trachea benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021517	http://identifiers.org/snomedct/92446002|UMLS:C0153953|NCIT:C3602|http://purl.bioontology.org/ontology/ICD10CM/D14.2	
HGNC:1078	biolink:NamedThing	BMPR2			mondo.json		http://identifiers.org/hgnc/1078		
MONDO:0021518	biolink:Disease	benign neoplasm of hard palate	A benign neoplasm that involves the hard palate.	NCIT:C4403|UMLS:C0345552|ICD9:210.4|SCTID:92129006	mondo.json	benign neoplasm of the hard palate|benign hard palate tumor|benign tumor of the hard palate|benign tumor of hard palate|hard palate benign neoplasm|benign hard palate neoplasm	http://purl.obolibrary.org/obo/MONDO_0021518	NCIT:C4403|http://identifiers.org/snomedct/92129006|UMLS:C0345552	
HGNC:1076	biolink:NamedThing	BMPR1A			mondo.json		http://identifiers.org/hgnc/1076		
HGNC:1077	biolink:NamedThing	BMPR1B			mondo.json		http://identifiers.org/hgnc/1077		
HGNC:18451	biolink:NamedThing	MCFD2			mondo.json		http://identifiers.org/hgnc/18451		
MONDO:0008539	biolink:Disease	obsolete distal arthrogryposis type 10			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008539		
MONDO:0008538	biolink:Disease	temporal arteritis	Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.	GARD:0009615|NCIT:C35065|ICD9:446.5|EFO:1001209|SCTID:400130008|OMIM:187360|MedDRA:10018250|DOID:13375|Orphanet:397|UMLS:C1956391|MedDRA:10043207	mondo.json	Horton's temporal arteritis|GCA|polymyalgia rheumatica|Horton’s syndrome|temporal arteritis|Horton's giant cell arteritis|Horton disease|Horton’s disease|Horton's disease|temporal artery inflammation|cranial arteritis|Horton's arteritis|arteritis cranialis|arteritis temporalis|giant cell arteritis|inflammation of temporal artery	http://purl.obolibrary.org/obo/MONDO_0008538	https://omim.org/entry/187360|DOID:13375|http://identifiers.org/snomedct/400130008|UMLS:C1956391|NCIT:C35065|Orphanet:397	ordo_disease
MONDO:0021510	biolink:Disease	benign neoplasm of prostate	A benign neoplasm that involves the prostate gland.	ICD10CM:D29.1|ICD9:222.2|UMLS:C0154009|SCTID:92308005|NCIT:C3613	mondo.json	benign tumor of prostate|benign tumor of the prostate|benign prostate tumor|benign neoplasm of the prostate|prostate gland benign neoplasm|benign prostate neoplasm|benign prostatic neoplasm	http://purl.obolibrary.org/obo/MONDO_0021510	NCIT:C3613|http://identifiers.org/snomedct/92308005|UMLS:C0154009|http://purl.bioontology.org/ontology/ICD10CM/D29.1	
MONDO:0021511	biolink:Disease	benign neoplasm of adrenal gland	A benign neoplasm that involves the adrenal gland.	ICD9:227.0|NCIT:C3629|UMLS:C0154040|SCTID:91967007	mondo.json	benign adrenal neoplasm|benign adrenal gland neoplasm|adrenal gland benign neoplasm|benign neoplasm of the adrenal gland|benign adrenal gland tumor|benign tumor of the adrenal gland|benign tumor of adrenal gland|benign adrenal tumor	http://purl.obolibrary.org/obo/MONDO_0021511	NCIT:C3629|http://identifiers.org/snomedct/91967007|UMLS:C0154040	
MONDO:0033537	biolink:Disease	combined oxidative phosphorylation deficiency 47		OMIM:618958	mondo.json	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47|COXPD47	http://purl.obolibrary.org/obo/MONDO_0033537	https://omim.org/entry/618958	
MONDO:0008537	biolink:Disease	telecanthus		Orphanet:98575|MESH:C562941|OMIM:187350	mondo.json	telecanthus	http://purl.obolibrary.org/obo/MONDO_0008537	http://identifiers.org/mesh/C562941|Orphanet:98575|https://omim.org/entry/187350	ordo_group_of_disorders|disease_grouping
MONDO:0021512	biolink:Disease	benign neoplasm of thymus	A benign neoplasm that involves the thymus.	ICD9:212.6|SCTID:92437008|ICD10CM:D15.0|UMLS:C0345975|NCIT:C4458	mondo.json	benign neoplasm of the Thymus|benign Thymus tumor|benign thymic tumor|benign thymic neoplasm|benign Thymus neoplasm|thymus benign neoplasm|benign tumor of Thymus|benign tumor of the Thymus	http://purl.obolibrary.org/obo/MONDO_0021512	UMLS:C0345975|http://identifiers.org/snomedct/92437008|http://purl.bioontology.org/ontology/ICD10CM/D15.0|NCIT:C4458	
MONDO:0008536	biolink:Disease	temperature-sensitive lethal mutation		OMIM:187340	mondo.json	temperature-sensitive lethal mutation	http://purl.obolibrary.org/obo/MONDO_0008536	https://omim.org/entry/187340	
MONDO:0008535	biolink:Disease	telangiectasia, hereditary hemorrhagic, type 1		UMLS:CN034812|GTR:AN0097750|OMIM:187300|GTR:AN0195329|GTR:AN0097748|GTR:AN0097757	mondo.json	telangiectasia, hereditary hemorrhagic, of RENDU, Osler, and WEBER|telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber|Osler-Rendu-Weber disease|ORW disease|ENG-related Hereditary hemorrhagic telangiectasia|telangiectasia, hereditary hemorrhagic, type 1|Osler Weber Rendu syndrome type 1|HHT|hereditary hemorrhagic telangiectasia type 1|HHT1	http://purl.obolibrary.org/obo/MONDO_0008535	UMLS:CN034812|https://omim.org/entry/187300	
CL:0019001	biolink:Cell	tracheobronchial serous cell	Any serous secreting cell that is part of the tracheobronchial epithelium.		mondo.json	serous cell of tracheobronchial tree	http://purl.obolibrary.org/obo/CL_0019001		added_for_HCA
MONDO:0008534	biolink:Disease	generalized essential telangiectasia		SCTID:238763007|Orphanet:280774|UMLS:C0473555|OMIM:187260	mondo.json	telangiectasia, hereditary benign|telangiectasia, generalized essential|Hbt|GET	http://purl.obolibrary.org/obo/MONDO_0008534	http://identifiers.org/snomedct/238763007|UMLS:C0473555|Orphanet:280774|https://omim.org/entry/187260	ordo_disease
MONDO:0008533	biolink:Disease	teeth, supernumerary	An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption.	MESH:D014096|SCTID:8666004|OMIM:187100|ICD10CM:K00.1	mondo.json	teeth, supernumerary	http://purl.obolibrary.org/obo/MONDO_0008533	http://purl.bioontology.org/ontology/ICD10CM/K00.1|http://identifiers.org/mesh/D014096|http://identifiers.org/snomedct/8666004|https://omim.org/entry/187100	
MONDO:0008532	biolink:Disease	teeth present at birth		HP:0000695|SCTID:21995002|OMIM:187050	mondo.json	teeth present AT birth|teeth present at birth|teeth present at birth (disease)|Natal teeth	http://purl.obolibrary.org/obo/MONDO_0008532	https://omim.org/entry/187050|http://identifiers.org/snomedct/21995002	
MONDO:0008531	biolink:Disease	obsolete T-complex locus TCP10B		OMIM:187030	mondo.json	TCP10B|T-complex locus TCP10B	http://purl.obolibrary.org/obo/MONDO_0008531	https://omim.org/entry/187030	
MONDO:0008530	biolink:Disease	teeth, odd shapes of		MESH:C566076|UMLS:C1861274|OMIM:187000	mondo.json	conical teeth, multiple|teeth, odd shapes of|Lobodontia	http://purl.obolibrary.org/obo/MONDO_0008530	UMLS:C1861274|http://identifiers.org/mesh/C566076|https://omim.org/entry/187000	
CL:0019003	biolink:Cell	tracheobronchial goblet cell	Any goblet cell that is part of the tracheobronchial epithelium.		mondo.json	goblet cell of tracheobronchial tree	http://purl.obolibrary.org/obo/CL_0019003		added_for_HCA
CL:0019002	biolink:Cell	tracheobronchial chondrocyte	Any chondrocyte that is part of the tracheobronchial tree.		mondo.json	chondrocyte of tracheobronchial tree	http://purl.obolibrary.org/obo/CL_0019002		added_for_HCA
MONDO:0033546	biolink:Disease	neurodegeneration, infantile-onset, biotin-responsive		OMIM:618973	mondo.json	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE|Smvt Deficiency|NERIB|Sodium-Dependent Multivitamin Transporter Deficiency	http://purl.obolibrary.org/obo/MONDO_0033546	https://omim.org/entry/618973	
MONDO:0021503	biolink:Disease	benign neoplasm of gallbladder	A benign neoplasm that involves the gall bladder.	UMLS:C0345912|DOID:0080640|NCIT:C4440|SCTID:92117002	mondo.json	gallbladder benign tumor|benign gallbladder neoplasm|gall bladder benign neoplasm|benign neoplasm of the gallbladder|benign gallbladder tumor|benign tumor of the gallbladder|benign tumor of gallbladder|gallbladder benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021503	NCIT:C4440|UMLS:C0345912|DOID:0080640|http://identifiers.org/snomedct/92117002	
MONDO:0033545	biolink:Disease	mitochondrial DNA depletion syndrome 19		OMIM:618972	mondo.json	MTDPS19|MITOCHONDRIAL DNA DEPLETION SYNDROME 19	http://purl.obolibrary.org/obo/MONDO_0033545	https://omim.org/entry/618972	
MONDO:0021504	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0021504		
MONDO:0033544	biolink:Disease	Tolchin-Le Caignec syndrome		OMIM:618971	mondo.json	TOLCAS|intellectual developmental disorder With behavioral abnormalities and variable bone defects|TOLCHIN-LE CAIGNEC SYNDROME	http://purl.obolibrary.org/obo/MONDO_0033544	https://omim.org/entry/618971	
MONDO:0021505	biolink:Disease	benign neoplasm of endocardium	A benign neoplasm that involves the endocardium.	NCIT:C4608|SCTID:92083007|UMLS:C0347254	mondo.json	endocardium benign neoplasm|benign endocardial tumor|benign neoplasm of the endocardium|benign endocardial neoplasm|benign tumor of the endocardium|benign tumor of endocardium	http://purl.obolibrary.org/obo/MONDO_0021505	UMLS:C0347254|NCIT:C4608|http://identifiers.org/snomedct/92083007	
MONDO:0033543	biolink:Disease	cone-rod synaptic disorder syndrome, congenital nonprogressive		OMIM:618970	mondo.json	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE|CRSDS	http://purl.obolibrary.org/obo/MONDO_0033543	https://omim.org/entry/618970	
MONDO:0021506	biolink:Disease	benign neoplasm of spinal cord	A benign neoplasm that involves the spinal cord.	ICD9:225.3|UMLS:C0154034|ICD10CM:D33.4|SCTID:92405007|NCIT:C3627	mondo.json	benign neoplasm of the spinal cord|spinal cord benign neoplasm|benign tumor of the spinal cord|benign spinal cord tumor|benign tumor of spinal cord|benign spinal cord neoplasm|spinal cord neoplasm, benign	http://purl.obolibrary.org/obo/MONDO_0021506	http://identifiers.org/snomedct/92405007|NCIT:C3627|http://purl.bioontology.org/ontology/ICD10CM/D33.4|UMLS:C0154034	
MONDO:0033542	biolink:Disease	immunodeficiency 70		OMIM:618969	mondo.json	IMMUNODEFICIENCY 70|IMD70	http://purl.obolibrary.org/obo/MONDO_0033542	https://omim.org/entry/618969	
MONDO:0021507	biolink:Disease	benign neoplasm of brain stem	A benign neoplasm that involves the brainstem.	UMLS:C0686400|NCIT:C8549|SCTID:92029009	mondo.json	benign brainstem tumor|benign brainstem neoplasm|benign tumor of the brainstem|benign tumor of brainstem|benign tumor of brain stem|benign brainstem tumors|benign brainstem neoplasms|benign tumor of the brain stem|brainstem benign neoplasm|benign neoplasm of the brain stem|benign brain stem tumor|benign brain stem neoplasms|benign brain stem neoplasm|benign tumors of the brainstem|benign tumors of brainstem|benign neoplasms of the brainstem|benign neoplasm of the brainstem|benign neoplasms of brainstem|benign neoplasm of brainstem	http://purl.obolibrary.org/obo/MONDO_0021507	UMLS:C0686400|NCIT:C8549|http://identifiers.org/snomedct/92029009	
MONDO:0033541	biolink:Disease	immunodeficiency 69		OMIM:618963	mondo.json	immunodeficiency 69, mycobacteriosis|IMMUNODEFICIENCY 69|IMD69|Immunodeficiency 69, Mycobacteriosis, Autosomal Recessive|Ifng Deficiency, Autosomal Recessive	http://purl.obolibrary.org/obo/MONDO_0033541	https://omim.org/entry/618963	
HGNC:18455	biolink:NamedThing	PROK2			mondo.json		http://identifiers.org/hgnc/18455		
MONDO:0021508	biolink:Disease	benign neoplasm of epicardium	A benign neoplasm that involves the epicardium.	SCTID:92087008|NCIT:C8535|UMLS:C0685115	mondo.json	benign epicardial tumor|benign tumor of epicardium|epicardium benign neoplasm|benign tumor of the epicardium|benign neoplasm of the epicardium|benign epicardial neoplasm	http://purl.obolibrary.org/obo/MONDO_0021508	NCIT:C8535|UMLS:C0685115|http://identifiers.org/snomedct/92087008	
CL:0007010	biolink:Cell	preosteoblast	Skeletogenic cell that has the potential to transform into an osteoblast, and develops from neural crest or mesodermal cells.		mondo.json	osteoprogenitor cell	http://purl.obolibrary.org/obo/CL_0007010		
MONDO:0021509	biolink:Disease	benign neoplasm of myocardium	A benign neoplasm that involves the myocardium.	UMLS:C0347253|SCTID:92238001|NCIT:C4607	mondo.json	benign myocardial tumor|benign tumor of myocardium|benign myocardial neoplasm|benign tumor of the myocardium|benign neoplasm of the myocardium|myocardium benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021509	http://identifiers.org/snomedct/92238001|UMLS:C0347253|NCIT:C4607	
HGNC:18453	biolink:NamedThing	NAXE			mondo.json		http://identifiers.org/hgnc/18453		
MONDO:0033549	biolink:Disease	optic atrophy 12		OMIM:618977	mondo.json	OPTIC ATROPHY 12|OPA12	http://purl.obolibrary.org/obo/MONDO_0033549	https://omim.org/entry/618977	
MONDO:0008549	biolink:Disease	thoracic dysostosis, isolated		UMLS:C1861204|MESH:C566063|OMIM:187750	mondo.json	thoracic dysostosis, isolated	http://purl.obolibrary.org/obo/MONDO_0008549	https://omim.org/entry/187750|UMLS:C1861204|http://identifiers.org/mesh/C566063	
MONDO:0033548	biolink:Disease	myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies		OMIM:618975	mondo.json	Myopathy, Congenital, Due to Myod1 Deficiency|MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES|MYODRIF	http://purl.obolibrary.org/obo/MONDO_0033548	https://omim.org/entry/618975	
MONDO:0021500	biolink:Disease	benign neoplasm of spleen	A benign neoplasm that involves the spleen.	SCTID:92408009|NCIT:C4902|UMLS:C0686615|ICD9:211.9	mondo.json	spleen benign neoplasm|benign splenic neoplasm|benign neoplasm of the spleen	http://purl.obolibrary.org/obo/MONDO_0021500	NCIT:C4902|UMLS:C0686615|http://identifiers.org/snomedct/92408009	
MONDO:0008548	biolink:Disease	obsolete theophylline Biotransformation		UMLS:C1861211|OMIM:187650	mondo.json	theophylline Biotransformation	http://purl.obolibrary.org/obo/MONDO_0008548	UMLS:C1861211|https://omim.org/entry/187650	
MONDO:0021501	biolink:Disease	benign neoplasm of small intestine	A benign neoplasm that involves the small intestine.	NCIT:C3600|SCTID:92385005|UMLS:C0153944|ICD9:211.2	mondo.json	small intestine benign neoplasm|benign small intestinal neoplasm|benign small intestinal tumor|benign neoplasm of the small intestine|benign small intestine tumor|benign tumor of the small intestine|benign tumor of small intestine|benign small intestine neoplasm	http://purl.obolibrary.org/obo/MONDO_0021501	http://identifiers.org/snomedct/92385005|NCIT:C3600|UMLS:C0153944	
MONDO:0008547	biolink:Disease	thanatophoric dysplasia type 2	Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs.	UMLS:CN206542|OMIM:187601|UMLS:C1300257|SCTID:389158007|MESH:C536508|NCIT:C98584|GARD:0001402|ICD9:742.59|Orphanet:93274	mondo.json	thanatophoric dwarfism type 2|type 2 thanatophoric dysplasia|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia, type II|thanatophoric dysplasia with Kleeblattschaedel|TD2|cloverleaf skull with thanatophoric dwarfism|thanatophoric dwarfism - cloverleaf skull|thanatophoric dysplasia type II|thanatophoric dysplasia with straight femurs and cloverleaf skull|thanatophoric dysplasia, type 2|thanatophoric dwarfism-cloverleaf skull syndrome	http://purl.obolibrary.org/obo/MONDO_0008547	UMLS:CN206542|NCIT:C98584|Orphanet:93274|http://identifiers.org/mesh/C536508|http://identifiers.org/snomedct/389158007|UMLS:C1300257|https://omim.org/entry/187601	ordo_clinical_subtype|gard_rare
MONDO:0033547	biolink:Disease	Li-Ghorbani-Weisz-Hubshman syndrome		OMIM:618974	mondo.json	Li-Ghorgani-Weisz-Hubshman syndrome|LIGOWS|LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME	http://purl.obolibrary.org/obo/MONDO_0033547	https://omim.org/entry/618974	
MONDO:0008546	biolink:Disease	thanatophoric dysplasia type 1	Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.	UMLS:C1300256|OMIM:187600|UMLS:C1868678|NCIT:C98583|GARD:0009295|GARD:0004889|Orphanet:1860|OMIM:270230	mondo.json	PLSD San Diego type|type 1 thanatophoric dysplasia|thanatophoric dwarfism 1|thanatophoric dwarfism type 1|TD1|thanatophoric dysplasia type I|Platyspondylic lethal skeletal dysplasia, San Diego type|lethal short-limbed Platyspondylic dwarfism, San Diego type|thanatophoric dysplasia, type I|thanatophoric dysplasia|thanatophoric dwarfism|thanatophoric dysplasia, type 1	http://purl.obolibrary.org/obo/MONDO_0008546	NCIT:C98583|Orphanet:1860|UMLS:C1868678|UMLS:C1300256|https://omim.org/entry/187600	ordo_clinical_subtype
MONDO:0008545	biolink:Disease	thalassemia, beta+, silent allele		MESH:C566065|UMLS:C1861232|OMIM:187550	mondo.json	thalassemia, beta+, silent allele	http://purl.obolibrary.org/obo/MONDO_0008545	UMLS:C1861232|http://identifiers.org/mesh/C566065|https://omim.org/entry/187550	
MONDO:0008544	biolink:Disease	tetramelic monodactyly	Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.	GARD:0003707|OMIM:187510|UMLS:C1861233|Orphanet:2564|MESH:C566066	mondo.json	Sommer-Hines syndrome|tetramelic monodactyly with autosomal dominant inheritance|tetramelic monodactyly|Sommer Hines syndrome	http://purl.obolibrary.org/obo/MONDO_0008544	UMLS:C1861233|Orphanet:2564|http://identifiers.org/mesh/C566066|https://omim.org/entry/187510	gard_rare|ordo_malformation_syndrome
MONDO:0008543	biolink:Disease	tetralogy of fallot and glaucoma		OMIM:187501|GARD:0010107|UMLS:C1861234|MESH:C536501	mondo.json	tetralogy of fallot and glaucoma|familial tetralogy of fallot and glaucoma	http://purl.obolibrary.org/obo/MONDO_0008543	UMLS:C1861234|http://identifiers.org/mesh/C536501|https://omim.org/entry/187501	gard_rare
MONDO:0008542	biolink:Disease	tetralogy of fallot	Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.	NCIT:C84505|MESH:D013771|MedDRA:10016193|UMLS:C0039685|DOID:6419|Orphanet:3303|SCTID:86299006|ICD9:745.2|ICD10CM:Q21.3|OMIM:187500|GARD:0002245	mondo.json	TOF|ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle|Fallot tetralogy|tetralogy of FALLOT|tetralogy of fallot	http://purl.obolibrary.org/obo/MONDO_0008542	NCIT:C84505|Orphanet:3303|DOID:6419|UMLS:C0039685|http://identifiers.org/mesh/D013771|http://identifiers.org/snomedct/86299006|http://purl.bioontology.org/ontology/ICD10CM/Q21.3|https://omim.org/entry/187500	clingen|gard_rare|ordo_malformation_syndrome
MONDO:0008541	biolink:Disease	spermatic cord torsion	An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue.	OMIM:187400|NCIT:C26885|UMLS:C0037856|ICD9:608.20|ICD9:608.2|SCTID:81996005|MESH:D013086|DOID:11996	mondo.json	torsion of testicular cord|testicular torsion|torsion of testis|torsion of testicle	http://purl.obolibrary.org/obo/MONDO_0008541	NCIT:C26885|DOID:11996|http://identifiers.org/snomedct/81996005|http://identifiers.org/mesh/D013086|https://omim.org/entry/187400|UMLS:C0037856	
MONDO:0008540	biolink:Disease	extensor tendons of finger anomalies		Orphanet:3294|UMLS:C2931376|MESH:C566068|GARD:0002597|OMIM:187390	mondo.json	Hapnes-Boman-Skeie syndrome|anomalous insertion of extensor tendons of fingers|tendons, extensor, of fingers, anomalous insertion OF|Hapnes Boman Skeie syndrome	http://purl.obolibrary.org/obo/MONDO_0008540	Orphanet:3294|http://identifiers.org/mesh/C566068|https://omim.org/entry/187390|UMLS:C2931376	ordo_malformation_syndrome
GO:0043648	biolink:NamedThing	dicarboxylic acid metabolic process	The chemical reactions and pathways involving dicarboxylic acids, any organic acid containing two carboxyl (COOH) groups or anions (COO-).		mondo.json	dicarboxylate metabolism|dicarboxylate metabolic process|dicarboxylic acid metabolism	http://purl.obolibrary.org/obo/GO_0043648		
HGNC:1097	biolink:NamedThing	BRAF			mondo.json		http://identifiers.org/hgnc/1097		
HGNC:1092	biolink:NamedThing	FOXL2			mondo.json		http://identifiers.org/hgnc/1092		
HGNC:1093	biolink:NamedThing	BPGM			mondo.json		http://identifiers.org/hgnc/1093		
NCBITaxon:31604	biolink:OrganismalEntity	Small ruminant morbillivirus		GC_ID:1	mondo.json	Pseudorinderpest virus	http://purl.obolibrary.org/obo/NCBITaxon_31604		
HGNC:1090	biolink:NamedThing	DST			mondo.json		http://identifiers.org/hgnc/1090		
MONDO:0033557	biolink:Disease	hemophagocytic lymphohistiocytosis, familial, 6		OMIM:618998	mondo.json	immune dysregulation and systemic hyperinflammation syndrome|HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 6|FHL6	http://purl.obolibrary.org/obo/MONDO_0033557	https://omim.org/entry/618998	
MONDO:0033556	biolink:Disease	muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15		OMIM:618992	mondo.json	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15|Muscular Dystrophy, Congenital, Dpm3-Related|MDDGB15	http://purl.obolibrary.org/obo/MONDO_0033556	https://omim.org/entry/618992	
MONDO:0033555	biolink:Disease	immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia		OMIM:618987	mondo.json	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA|IMD73C	http://purl.obolibrary.org/obo/MONDO_0033555	https://omim.org/entry/618987	
MONDO:0033554	biolink:Disease	immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia		OMIM:618986	mondo.json	immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia|IMD73B	http://purl.obolibrary.org/obo/MONDO_0033554	https://omim.org/entry/618986	
MONDO:0033552	biolink:Disease	obsolete blood group, lewis system		OMIM:618983	mondo.json	blood group, Lewis|BLOOD GROUP, LEWIS SYSTEM|Lewis-Negative Phenotype|Lewis Blood Group System|LE	http://purl.obolibrary.org/obo/MONDO_0033552	https://omim.org/entry/618983	
HGNC:18466	biolink:NamedThing	RNASEH1			mondo.json		http://identifiers.org/hgnc/18466		
MONDO:0033551	biolink:Disease	immunodeficiency 72 with autoinflammation		OMIM:618982	mondo.json	IMD72|IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION	http://purl.obolibrary.org/obo/MONDO_0033551	https://omim.org/entry/618982	
MONDO:0033550	biolink:Disease	obsolete high density lipoprotein cholesterol level quantitative trait locus 7		OMIM:618979	mondo.json	HDLCQ7|HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7	http://purl.obolibrary.org/obo/MONDO_0033550	https://omim.org/entry/618979	
MONDO:0021571	biolink:Disease	multiple sclerosis, susceptibility to 1		OMIM:126200|UMLS:CN031763	mondo.json	multiple sclerosis, susceptibility to|MS1|multiple sclerosis, susceptibility to, 1|disseminated sclerosis|susceptibility to multiple sclerosis|multiple sclerosis, disease progression, modifier of|MS	http://purl.obolibrary.org/obo/MONDO_0021571	https://omim.org/entry/126200|UMLS:CN031763	predisposition
MONDO:0021573	biolink:Disease	oocyte maturation defect 2	Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene.	OMIM:616780|UMLS:C4225210|Orphanet:488191	mondo.json	inherited oocyte maturation defect caused by mutation in TUBB8|oocyte maturation defect 2|OOMD2|TUBB8 inherited oocyte maturation defect	http://purl.obolibrary.org/obo/MONDO_0021573	UMLS:C4225210|https://omim.org/entry/616780	
MONDO:0021574	biolink:Disease	oocyte maturation defect 3		Orphanet:404466|OMIM:617712	mondo.json	oocyte maturation defect 3|OOMD3	http://purl.obolibrary.org/obo/MONDO_0021574	https://omim.org/entry/617712	
MONDO:0021575	biolink:Disease	oocyte maturation defect 4		Orphanet:488191|UMLS:CN562785|OMIM:617743	mondo.json	OOMD4|oocyte maturation defect 4	http://purl.obolibrary.org/obo/MONDO_0021575	UMLS:CN562785|https://omim.org/entry/617743	
MONDO:0021576	biolink:Disease	fallopian tube endometrioid tumor	A benign, borderline, or malignant epithelial tumor of the fallopian tube that is characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.	NCIT:C40111|UMLS:C1517113	mondo.json	fallopian tube endometrioid neoplasm|fallopian tube endometrium neoplasm|fallopian tube endometrioid tumor|endometrium neoplasm of fallopian tube	http://purl.obolibrary.org/obo/MONDO_0021576	UMLS:C1517113|NCIT:C40111	
MONDO:0021577	biolink:Disease	malignant mediastinal neural neoplasm		SCTID:278044006|UMLS:C0349665	mondo.json	malignant neuroma of mediastinum	http://purl.obolibrary.org/obo/MONDO_0021577	UMLS:C0349665|http://identifiers.org/snomedct/278044006	
MONDO:0021578	biolink:Disease	sternal neoplasm	A benign or malignant neoplasm that affects the sternum.	ICD9:239.2|UMLS:C1290244|NCIT:C6730|SCTID:126559003	mondo.json	neoplasm of sternum (disease)|neoplasm of sternum|tumor of the sternum|sternum tumor|neoplasm of sternum (disorder)|sternum neoplasm (disease)|sternal neoplasm|sternal tumor|tumor of sternum|neoplasm of the sternum|sternum neoplasm	http://purl.obolibrary.org/obo/MONDO_0021578	NCIT:C6730|UMLS:C1290244|http://identifiers.org/snomedct/126559003	
MONDO:0008599	biolink:Disease	trigeminal neuralgia	Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches.	DOID:12098|GARD:0007805|UMLS:C0040997|Orphanet:221091|ICD10CM:G50.0|MedDRA:10044652|EFO:1001219|MESH:D014277|ICD9:350.1|OMIM:190400|SCTID:31681005	mondo.json	trifocal neuralgia|trigeminal nerve neuralgia|trifacial neuralgia|trigeminal neuralgia|Tic douloureux|neuralgia of trigeminal nerve	http://purl.obolibrary.org/obo/MONDO_0008599	DOID:12098|https://omim.org/entry/190400|UMLS:C0040997|Orphanet:221091|http://identifiers.org/snomedct/31681005|http://purl.bioontology.org/ontology/ICD10CM/G50.0|http://identifiers.org/mesh/D014277	ordo_disease|gard_rare
MONDO:0008598	biolink:Disease	trichodysplasia-xeroderma syndrome	Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.	GARD:0005261|MESH:C566032|Orphanet:3361|OMIM:190360|UMLS:C1860822	mondo.json	trichodysplasia xeroderma|trichodysplasia-xeroderma	http://purl.obolibrary.org/obo/MONDO_0008598	http://identifiers.org/mesh/C566032|UMLS:C1860822|https://omim.org/entry/190360|Orphanet:3361	ordo_malformation_syndrome
MONDO:0008597	biolink:Disease	trichorhinophalangeal syndrome, type III	A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature.	DOID:0080376|GARD:0007802|MESH:C566033|UMLS:C1860823|OMIM:190351	mondo.json	trichorhinophalangeal syndrome type 3|trichorhinophalangeal syndrome, type 3|Sugio-Kajii syndrome|trichorhinophalangeal syndrome, type III|TRPS 3|TRPS3	http://purl.obolibrary.org/obo/MONDO_0008597	DOID:0080376|UMLS:C1860823|https://omim.org/entry/190351|http://identifiers.org/mesh/C566033	
MONDO:0008596	biolink:Disease	trichorhinophalangeal syndrome type I	An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.	GARD:0007800|MESH:C536820|SCTID:254091006|NCIT:C75109|DOID:14743|OMIM:190350|ICD9:759.89	mondo.json	TRPS 1|trichorhinophalangeal syndrome, type 1|trichorhinophalangeal syndrome type I|trichorhinophalangeal dysplasia type I|TRPS1|Giedion syndrome|trichorhinophalangeal syndrome, type I|type I trichorhinophalangeal syndrome|type III trichorhinophalangeal syndrome|trichorhinophalangeal syndrome type 1|Sugio-Kajii syndrome	http://purl.obolibrary.org/obo/MONDO_0008596	NCIT:C75109|http://identifiers.org/snomedct/254091006|DOID:14743|http://identifiers.org/mesh/C536820|https://omim.org/entry/190350	
MONDO:0008595	biolink:Disease	trichoepitheliomas, multiple desmoplastic		OMIM:190345|MESH:C566034|UMLS:C1860849	mondo.json	trichoepitheliomas, multiple desmoplastic	http://purl.obolibrary.org/obo/MONDO_0008595	UMLS:C1860849|https://omim.org/entry/190345|http://identifiers.org/mesh/C566034	
MONDO:0008594	biolink:Disease	familial multiple discoid fibromas	A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominently located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation.	Orphanet:538756|GARD:0008479|OMIM:190340|MESH:C536847|UMLS:C1860850	mondo.json	familial multiple trichodiscomas|FMDF|hereditary multiple trichodiscomas|small benign fibrovascular tumor of the dermal part of the hair disk|discoid fibromas, familial multiple|trichodiscomas, familial multiple	http://purl.obolibrary.org/obo/MONDO_0008594	UMLS:C1860850|http://identifiers.org/mesh/C536847|Orphanet:538756|https://omim.org/entry/190340	ordo_disease
MONDO:0021570	biolink:Disease	obsolete Hauptmann-Thannhauser muscular dystrophy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021570		
MONDO:0008593	biolink:Disease	trichomegaly		OMIM:190330	mondo.json	trichomegaly|TCMGLY|eyelashes, long	http://purl.obolibrary.org/obo/MONDO_0008593	https://omim.org/entry/190330	
MONDO:0008592	biolink:Disease	tricho-dento-osseous syndrome	Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.	SCTID:38993008|GARD:0007799|DOID:0111565|Orphanet:3352|GARD:0005252|ICD9:759.89|OMIM:190320|MESH:C536549	mondo.json	Tricho-dento-osseous syndrome 1|enamel hypoplasia and hypocalcification with associated strikingly curly hair|TDO syndrome|TRICHODENTOOSSEOUS syndrome|TDO syndrome 1|kinky or curly hair, dolichocephaly, enamel hypoplasia, increased dental caries, radial dense bones, and brittle nails|trichodontoosseous syndrome|TDO	http://purl.obolibrary.org/obo/MONDO_0008592	http://identifiers.org/mesh/C536549|DOID:0111565|https://omim.org/entry/190320|http://identifiers.org/snomedct/38993008|Orphanet:3352	ordo_malformation_syndrome|gard_rare
MONDO:0008591	biolink:Disease	tremor-nystagmus-duodenal ulcer syndrome		UMLS:C1860860|Orphanet:3350|GARD:0003948|OMIM:190310|MESH:C536406	mondo.json	Neuhauser-Daly-Magnelli syndrome|Neuhauser Daly Magnelli syndrome|tremor, NYSTAGMUS, and duodenal ulcer|tremor nystagmus duodenal ulcer	http://purl.obolibrary.org/obo/MONDO_0008591	http://identifiers.org/mesh/C536406|UMLS:C1860860|https://omim.org/entry/190310|Orphanet:3350	ordo_disease|gard_rare
MONDO:0008590	biolink:Disease	tremor, hereditary essential, 1	Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene.	DOID:0111428|UMLS:C1860861|MESH:C536545|OMIM:190300|GARD:0005244	mondo.json	tremor hereditary essential, 1|tremor, familial essential, 1|DRD3 essential tremor|essential tremor caused by mutation in DRD3|ETM1|tremor familial essential, 1|tremor, hereditary essential, type 1|tremor, hereditary essential, 1|essential tremor, hereditary, 1|FET1	http://purl.obolibrary.org/obo/MONDO_0008590	http://identifiers.org/mesh/C536545|DOID:0111428|UMLS:C1860861|https://omim.org/entry/190300	
MONDO:0021568	biolink:Disease	renal tubule disorder	A disease that involves the renal tubule.	UMLS:C0151747|SCTID:95568003|ICD9:588.89	mondo.json	renal tubule disease or disorder|disorder of renal tubule|renal tubular disease|disease of renal tubule|disease or disorder of renal tubule|renal tubule disease|renal tubular disorder	http://purl.obolibrary.org/obo/MONDO_0021568	http://identifiers.org/snomedct/95568003|UMLS:C0151747	
MONDO:0021569	biolink:Disease	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene.	UMLS:C2750035|GARD:0010230|DOID:0110301|ICD9:425.4|Orphanet:98853|SCTID:240072005|OMIM:181350|NCIT:C126745|Orphanet:264|UMLS:C1834653|UMLS:C0410190|OMIM:159001|DOID:0070247|SCTID:718178006|MESH:C535898	mondo.json	muscular dystrophy, limb-girdle type 1B|scapuloilioperoneal atrophy with cardiopathy|proximal muscular dystrophy type 1B|Emery-Dreifuss muscular dystrophy 2, autosomal dominant|Emery-Dreifuss muscular dystrophy, autosomal dominant|Hauptmann-Thannhauser muscular dystrophy|muscular dystrophy, proximal, type 1B|autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA|benign scapuloperoneal muscular dystrophy with cardiomyopathy|limb-girdle muscular dystrophy type 1B|autosomal dominant limb-girdle muscular dystrophy type 1B|LGMD1B|EMD2|muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant|limb-girdle muscular dystrophy due to lamin A/C deficiency|LMNA autosomal dominant limb-girdle muscular dystrophy|EDMD2|muscular dystrophy, limb-girdle, type 1B	http://purl.obolibrary.org/obo/MONDO_0021569	http://identifiers.org/snomedct/718178006|DOID:0110301|http://identifiers.org/mesh/C535898|NCIT:C126745|DOID:0070247|UMLS:C1834653|http://identifiers.org/snomedct/240072005|UMLS:C0410190|https://omim.org/entry/159001|https://omim.org/entry/181350|Orphanet:264	ordo_disease|gard_rare
MONDO:0021562	biolink:Disease	omphalitis	Inflammation of the umbilical cord stump in newborns.	GTR:AN0533760|NCIT:C116008|SCTID:239095007|UMLS:C0028992	mondo.json	Omphalitis|omphalitis	http://purl.obolibrary.org/obo/MONDO_0021562	http://identifiers.org/snomedct/239095007|UMLS:C0028992|NCIT:C116008	
CL:0007009	biolink:Cell	prechondroblast	Skeletogenic cell that has the potential to develop into a chondroblast; and arises from neural crest, meseosdermal and notochordal and connective tissue cells.		mondo.json		http://purl.obolibrary.org/obo/CL_0007009		
CL:0007001	biolink:Cell	skeletogenic cell	Cell that has the potential to form a skeletal cell type (e.g. cells in periosteum, cells in marrow) and produce extracellular matrix (often mineralized) and skeletal tissue (often mineralized).		mondo.json	scleroblast	http://purl.obolibrary.org/obo/CL_0007001		
CL:0007002	biolink:Cell	precementoblast	Skeletogenic cell that has the potential to develop into a cementoblast.		mondo.json		http://purl.obolibrary.org/obo/CL_0007002		
CL:0007003	biolink:Cell	preodontoblast	Skeletogenic cell that has the potential to form an odontoblast, deposits predentine, and arises from a cranial neural crest cell.		mondo.json		http://purl.obolibrary.org/obo/CL_0007003		
MONDO:0021559	biolink:Disease	non-autoimmune hemolytic anemia	Hemolytic anemia that is not mediated by immune mechanisms.	ICD9:283.10|UMLS:C0028283|NCIT:C34853|SCTID:191216004|ICD9:283.19	mondo.json	non-autoimmune hemolytic anemia|Non-Autoimmune Hemolytic Anemia|Non-autoimmune hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0021559	http://identifiers.org/snomedct/191216004|NCIT:C34853|UMLS:C0028283	
CL:0007004	biolink:Cell	premigratory neural crest cell	Cell that is part of the neural crest region of the neuroepithelium, prior to migration. Note that not all premigratory neural crest cells may become migratory neural crest cells.		mondo.json		http://purl.obolibrary.org/obo/CL_0007004		
CL:0007000	biolink:Cell	preameloblast	Skeletogenic cell that has the potential to develop into an ameloblast. Located in the inner enamel epithelium, these cells elongate, their nuclei shift distally (away from the dental papilla), and their cytoplasm becomes filled with organelles needed for synthesis and secretion of enamel proteins.		mondo.json		http://purl.obolibrary.org/obo/CL_0007000		
MONDO:0021553	biolink:Disease	transverse myelitis		GARD:0007796|ICD9:323.9|UMLS:C0026976|SCTID:16631009|MedDRA:10028527	mondo.json	Transverse myelitis|transverse myelitis|Transverse Myelopathy Syndromes|Transverse Myelitis|Transverse myelopathy syndrome|Myelitis, Transverse|transverse myelopathy syndrome|Transverse Myelopathy Syndrome	http://purl.obolibrary.org/obo/MONDO_0021553	http://identifiers.org/meddra/10028527|http://identifiers.org/snomedct/16631009|UMLS:C0026976	gard_rare
MONDO:0021556	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0021556		
MONDO:0008579	biolink:Disease	toes, relative length of first and second		OMIM:189200	mondo.json	toes, relative length of first and second	http://purl.obolibrary.org/obo/MONDO_0008579	https://omim.org/entry/189200	
MONDO:0008578	biolink:Disease	toe, rotated fifth		OMIM:189150	mondo.json	toe, rotated fifth	http://purl.obolibrary.org/obo/MONDO_0008578	https://omim.org/entry/189150	
MONDO:0008577	biolink:Disease	toe, misshapen		OMIM:189100	mondo.json	toe, misshapen	http://purl.obolibrary.org/obo/MONDO_0008577	https://omim.org/entry/189100	
MONDO:0008576	biolink:Disease	toe, fifth, number of phalanges 1N		OMIM:189000	mondo.json	toe, fifth, number of phalanges type 1N|toe, fifth, number of phalanges IN	http://purl.obolibrary.org/obo/MONDO_0008576	https://omim.org/entry/189000	
MONDO:0008575	biolink:Disease	nicotine dependence	Physical and psychological dependence on nicotine.	ICD10CM:F17|NCIT:C54203|MESH:D014029|SCTID:56294008|OMIM:188890|DOID:0050742|EFO:0003768|ICD9:305.1	mondo.json	tobacco use disorder|nicotine addiction	http://purl.obolibrary.org/obo/MONDO_0008575	http://identifiers.org/mesh/D014029|http://identifiers.org/snomedct/56294008|DOID:0050742|http://purl.bioontology.org/ontology/ICD10CM/F17|NCIT:C54203	
MONDO:0008574	biolink:Disease	obsolete Tl antigen		OMIM:188850	mondo.json	Tl antigen|Thymus leukemia antigen|histocompatibility 2, T-region locus 18	http://purl.obolibrary.org/obo/MONDO_0008574	https://omim.org/entry/188850	
MONDO:0008573	biolink:Disease	tibial torsion, bilateral medial		UMLS:C1861097|MESH:C566045|OMIM:188800	mondo.json	tibial torsion, bilateral medial	http://purl.obolibrary.org/obo/MONDO_0008573	UMLS:C1861097|http://identifiers.org/mesh/C566045|https://omim.org/entry/188800	
MONDO:0008572	biolink:Disease	tibia, hypoplasia or aplasia of, with polydactyly		MESH:C566046|DOID:0111564|OMIM:188740	mondo.json	hypoplastic or aplastic tibia with polydactyly|tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia|THYP|tibia, hypoplasia or aplasia of, with polydactyly	http://purl.obolibrary.org/obo/MONDO_0008572	http://identifiers.org/mesh/C566046|https://omim.org/entry/188740|DOID:0111564	
MONDO:0008571	biolink:Disease	Blount disease, infantile		UMLS:C3150037|OMIM:188700	mondo.json	tibia vara, infantile|Osteochondrosis deformans tibiae, infantile|Blount disease, infantile	http://purl.obolibrary.org/obo/MONDO_0008571	UMLS:C3150037|https://omim.org/entry/188700	
MONDO:0008570	biolink:Disease	thyrotoxic periodic paralysis, susceptibility to, 1	Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the CACNA1S gene.	OMIM:188580	mondo.json	thyrotoxic periodic paralysis, susceptibility to, 1|CACNA1S thyrotoxic periodic paralysis|thyrotoxic periodic paralysis caused by mutation in CACNA1S|thyrotoxic periodic paralysis, susceptibility to, type 1|TTPP1	http://purl.obolibrary.org/obo/MONDO_0008570	https://omim.org/entry/188580	predisposition
MONDO:0021546	biolink:Disease	ependymal tumor of spinal cord	An ependymal tumor that arises from the spinal cord.	NCIT:C131526|UMLS:C4318747	mondo.json	ependymal tumor of spinal cord|spinal cord ependymal tumor	http://purl.obolibrary.org/obo/MONDO_0021546	UMLS:C4318747|NCIT:C131526	
MONDO:0021547	biolink:Disease	amelogenesis imperfecta type 3B		UMLS:CN373594|DOID:0080243|OMIM:617607	mondo.json	amelogenesis imperfecta, type 3B|AI3B|amelogenesis imperfecta, type IIIB	http://purl.obolibrary.org/obo/MONDO_0021547	DOID:0080243|https://omim.org/entry/617607|UMLS:CN373594	
MONDO:0021548	biolink:Disease	total early-onset cataract		GARD:0001159|Orphanet:98994|OMIM:601547|OMIM:616509	mondo.json	CCT|cataract, total congenital|cataract, total congenital with posterior sutural opacities in heterozygotes	http://purl.obolibrary.org/obo/MONDO_0021548	Orphanet:98994	ordo_clinical_subtype
MONDO:0021540	biolink:Disease	hamartoma of lung	A hamartoma (disease) that involves the lung.	SCTID:254644003|ICD9:235.7|UMLS:C0149927|NCIT:C3497	mondo.json	lung hamartoma (disease)|lung chondroid hamartoma|hamartoma of the lung|pulmonary hamartoma|lung hamartoma	http://purl.obolibrary.org/obo/MONDO_0021540	http://identifiers.org/snomedct/254644003|NCIT:C3497|UMLS:C0149927	
MONDO:0021541	biolink:Disease	hemangioma of retina	A hemangioma that involves the retina.	SCTID:93470007|NCIT:C3634|ICD9:228.03|UMLS:C0154051	mondo.json	angioma of retina|angioma of the retina|hemangioma of the retina|retinal angioma|retinal hemangioma|retina hemangioma|retina angioma	http://purl.obolibrary.org/obo/MONDO_0021541	UMLS:C0154051|http://identifiers.org/snomedct/93470007|NCIT:C3634	
MONDO:0021542	biolink:Disease	hemangioma of choroid	A hemangioma that involves the optic choroid.	ICD9:228.09|NCIT:C4562|SCTID:255022003|UMLS:C0346390	mondo.json	hemangioma, choroid, benign|choroid hemangioma|benign angioma of the choroid|benign angioma of choroid|optic choroid hemangioma|benign choroid hemangioma|benign choroid angioma|benign hemangioma of the choroid|benign hemangioma of choroid|hemangioma of optic choroid|hemangioma of the choroid|angioma of the choroid|choroid angioma|angioma of choroid	http://purl.obolibrary.org/obo/MONDO_0021542	NCIT:C4562|UMLS:C0346390|http://identifiers.org/snomedct/255022003	
MONDO:0021543	biolink:Disease	hemangioma of gingiva	A hemangioma that involves the gingiva.	ICD9:228.09|UMLS:C0582885|SCTID:304990002|NCIT:C4831	mondo.json	gingiva hemangioma|gingival angioma|gum hemangioma|gum angioma|hemangioma of the gum|angioma of the gum|hemangioma of gum|angioma of gum|gingival hemangioma|hemangioma of the gingiva|angioma of the gingiva|angioma of gingiva	http://purl.obolibrary.org/obo/MONDO_0021543	UMLS:C0582885|NCIT:C4831|http://identifiers.org/snomedct/304990002	
MONDO:0021544	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0021544		
MONDO:0021545	biolink:Disease	myomatous neoplasm	A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle.	MESH:D009379|NCIT:C4063|MESH:D019042	mondo.json	neoplasm of muscle|neoplasm of the muscle|muscle tumor|myoblastomas|myomatous tumor|myofibroblastoma|muscle tissue neoplasm|muscle tissue neoplasms|tumor of muscle|myofibroblastomas|myoblastoma|tumor of the muscle|myomatous neoplasm|muscle neoplasm|neoplasm, muscle tissue	http://purl.obolibrary.org/obo/MONDO_0021545	http://identifiers.org/mesh/D019042|NCIT:C4063|http://identifiers.org/mesh/D009379	
MONDO:0008589	biolink:Disease	tremor of intention, ataxia, and lipofuscinosis		UMLS:C1860872|MESH:C566038|OMIM:190200	mondo.json	tremor of intention, ataxia, and lipofuscinosis	http://purl.obolibrary.org/obo/MONDO_0008589	http://identifiers.org/mesh/C566038|UMLS:C1860872|https://omim.org/entry/190200	
MONDO:0008588	biolink:Disease	hereditary geniospasm	Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip.	UMLS:C2931589|OMIM:190100|SCTID:718103001|GARD:0009501|MESH:C537682|Orphanet:53372	mondo.json	trembling Chin|GSM1|hereditary chin tremor/myoclonus|GSM 1|geniospasm 1|hereditary chin myoclonus|hereditary chin-trembling|familial trembling of the chin|geniospasm	http://purl.obolibrary.org/obo/MONDO_0008588	http://identifiers.org/mesh/C537682|https://omim.org/entry/190100|Orphanet:53372|UMLS:C2931589|http://identifiers.org/snomedct/718103001	ordo_disease|gard_rare
MONDO:0008587	biolink:Disease	tracheobronchopathia osteochondroplastica	Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi.	UMLS:CN204359|MESH:C536977|GARD:0005235|SCTID:54675009|Orphanet:3348|OMIM:189961	mondo.json	cartilaginous or bony projections into the tracheobronchial lumen|tracheobronchopathia osteoplastica|tracheopathia osteoplastica|tracheobronchopathia osteochondroplastica	http://purl.obolibrary.org/obo/MONDO_0008587	https://omim.org/entry/189961|http://identifiers.org/mesh/C536977|UMLS:CN204359|http://identifiers.org/snomedct/54675009|Orphanet:3348	ordo_disease
MONDO:0008586	biolink:Disease	esophageal atresia/tracheoesophageal fistula	Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without persistent communication with the trachea.	Orphanet:1199|MedDRA:10030146|SCTID:95435007|MedDRA:10021530|OMIM:189960|MESH:D004933|DOID:0080171|MESH:C531835|GARD:0007792	mondo.json	esophageal atresia and/or tracheoesophageal fistula|tracheoesophageal fistula with or without esophageal atresia|tracheoesophageal fistula|te fistula|tracheoesophageal fistula with or without esohageal atresia|esophageal atresia with or without tracheoesophageal fistula|TEF	http://purl.obolibrary.org/obo/MONDO_0008586	Orphanet:1199|DOID:0080171|https://omim.org/entry/189960|http://identifiers.org/snomedct/95435007|http://identifiers.org/mesh/C531835	ordo_morphological_anomaly
MONDO:0008585	biolink:Disease	HELLP syndrome	A life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems.	OMIM:189800|UMLS:C0162739|DOID:13133|NCIT:C84750|GARD:0008528|MedDRA:10049058|Orphanet:244242|EFO:0007297|MESH:D017359	mondo.json	PREECLAMPSIA/eclampsia 1|PEE1|hypertension, pregnancy-induced|hemolysis-elevated liver enzymes-low platelets syndrome|hemolysis, elevated liver enzymes, low platelets in pregnancy|PREG1|hemolysis, elevated liver enzymes, lowered platelets|hemolysis-elevated liver enzymes-low platelet count syndrome|toxemia of pregnancy|hemolysis, elevated liver enzymes, and low platelet count	http://purl.obolibrary.org/obo/MONDO_0008585	UMLS:C0162739|DOID:13133|http://identifiers.org/mesh/D017359|NCIT:C84750|Orphanet:244242	gard_rare|ordo_disease
MONDO:0008584	biolink:Disease	torus palatinus and torus mandibularis		UMLS:C1861044|MESH:C566043|OMIM:189700	mondo.json	torus palatinus and torus mandibularis	http://purl.obolibrary.org/obo/MONDO_0008584	http://identifiers.org/mesh/C566043|https://omim.org/entry/189700|UMLS:C1861044	
MONDO:0008583	biolink:Disease	inherited torticollis	A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation.	MESH:C535425|SCTID:70070008|SCTID:268240006|GARD:0004908|HP:0000473|NCIT:C4811|ICD9:723.5|OMIM:189600	mondo.json	congenital muscular torticollis|contracture of sternocleidomastoid muscle|congenital wryneck|torticollis, familial|torticollis|torticollis, congenital|familial torticollis|congenital wry neck|congenital sternomastoid torticollis|congenital torticollis|familial spasmodic torticollis|inherited torticollis (disease)|fibromatosis colli	http://purl.obolibrary.org/obo/MONDO_0008583	http://identifiers.org/snomedct/268240006|https://omim.org/entry/189600|http://identifiers.org/snomedct/70070008|http://identifiers.org/mesh/C535425|NCIT:C4811	gard_rare
MONDO:0008582	biolink:Disease	tooth and nail syndrome	Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.	DOID:6678|UMLS:C0406735|NCIT:C40553|GARD:0005587|SCTID:400036004|Orphanet:2228|OMIM:189500|MESH:C536736	mondo.json	hypodontia with nail dysplasia|hypodontia-dysplasia of nails syndrome|Witkop syndrome|nail dysplasia with hypodontia|dysplasia of nails with hypodontia|hypoplastic enamel-onycholysis-hypohidrosis syndrome|TNS|hypodontia and nail dysplasia|hypodontia-nail dysgenesis syndrome|WITKOP syndrome|Witkop's syndrome|ectodermal dysplasia 3, Witkop type|hypodontia - dysplasia of nails|HND|ectodermal dysplasia 3, Tooth/nail type|hypodontia-nail dysplasia|tooth-and-nail syndrome|tooth and nail syndrome	http://purl.obolibrary.org/obo/MONDO_0008582	UMLS:C0406735|https://omim.org/entry/189500|http://identifiers.org/mesh/C536736|http://identifiers.org/snomedct/400036004|Orphanet:2228|NCIT:C40553|DOID:6678	ordo_malformation_syndrome
MONDO:0008581	biolink:Disease	malposition of teeth with or without hypodontia/oligodontia		OMIM:189490	mondo.json	ectopic eruption of teeth|malposition of teeth with or without hypodontia/oligodontia	http://purl.obolibrary.org/obo/MONDO_0008581	https://omim.org/entry/189490	
MONDO:0008580	biolink:Disease	toes, space between first and second		OMIM:189230	mondo.json	toes, space between first and second	http://purl.obolibrary.org/obo/MONDO_0008580	https://omim.org/entry/189230	
MONDO:0021535	biolink:Disease	pancreatic neuroendocrine tumor G1	A low grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal or less than 2%.	SCTID:254613007|NCIT:C95584	mondo.json	pancreas neuroendocrine tumor, well differentiated, low grade|pancreatic NET G1|pancreas neuroendocrine neoplasm G1|pancreas NET G1|pancreatic neuroendocrine tumor G1|grade 1 neuroendocrine neoplasm of pancreas|pancreas carcinoid tumor	http://purl.obolibrary.org/obo/MONDO_0021535	NCIT:C95584|http://identifiers.org/snomedct/254613007	
MONDO:0021536	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0021536		
MONDO:0021537	biolink:Disease	undifferentiated carcinoma of nasopharynx	A undifferentiated carcinoma that involves the nasopharynx.	SCTID:422541001|NCIT:C8023|UMLS:C0279748	mondo.json	nasopharyngeal undifferentiated carcinoma|nasopharynx undifferentiated carcinoma|nasopharyngeal lymphoepithelioma|undifferentiated carcinoma of the nasopharynx|lymphoepithelioma of the nasopharynx|undifferentiated nasopharyngeal throat cancer|lymphoepithelioma of nasopharynx|nasopharyngeal nonkeratinizing undifferentiated carcinoma	http://purl.obolibrary.org/obo/MONDO_0021537	UMLS:C0279748|NCIT:C8023|http://identifiers.org/snomedct/422541001	
HGNC:18423	biolink:NamedThing	DEPDC5			mondo.json		http://identifiers.org/hgnc/18423		
MONDO:0021538	biolink:Disease	verrucous carcinoma of oral cavity	A verrucous carcinoma that involves the oral cavity.	UMLS:C0280306|SCTID:403889000|NCIT:C8174	mondo.json	verrucous carcinoma of the oral cavity|verrucous carcinoma of the mouth|verrucous carcinoma of mouth|oral cavity verrucous carcinoma|oral cavity verrucous cancer|mouth verrucous carcinoma	http://purl.obolibrary.org/obo/MONDO_0021538	NCIT:C8174|UMLS:C0280306|http://identifiers.org/snomedct/403889000	
MONDO:0021539	biolink:Disease	hamartoma of skin appendage	A hamartoma (disease) that involves the cutaneous appendage.	SCTID:399906000|UMLS:C1302712|NCIT:C5562|ICD9:759.6	mondo.json	skin appendage hamartoma|cutaneous appendage hamartoma (disease)	http://purl.obolibrary.org/obo/MONDO_0021539	UMLS:C1302712|http://identifiers.org/snomedct/399906000|NCIT:C5562	
HGNC:18420	biolink:NamedThing	SETD2			mondo.json		http://identifiers.org/hgnc/18420		
MONDO:0700084	biolink:Disease	myopathy caused by variation in GMPPB	Any myopathy in which the cause of the disease is a variation in the GMPPB gene.		mondo.json	myopathy caused by mutation in GMPPB|GMPPB-related myopathy	http://purl.obolibrary.org/obo/MONDO_0700084		
MONDO:0700083	biolink:Disease	reciprocal translocation down syndrome	Chromosomal disorder in which (part or full) chromosome 21 has been exchange with another chromosome, resulting in the presence of a third copy of (part or full) chromosome 21 genetic material. A reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700083		
MONDO:0700086	biolink:Disease	uniparental disomy	A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders.	MESH:D024182|NCIT:C85215	mondo.json		http://purl.obolibrary.org/obo/MONDO_0700086	http://identifiers.org/mesh/D024182|NCIT:C85215	
MONDO:0700085	biolink:Disease	pentasomy	A chromosomal disorder consisting of the presence of three chromosomes of the same type in addition to the normal diploid number.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700085		
MONDO:0700080	biolink:Disease	EPHB4-associated vascular malformation spectrum	Any vascular malformation in which the cause of the disease is a variation in the EPHB4 gene.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700080		
MONDO:0700082	biolink:Disease	Robertsonian translocation Down syndrome	Chromosomal disorder in which (part or full) chromosome 21 is attached to another chromosome, resulting in the presence of a third copy of part of full chromosome 21 genetic material. A Robertsonian translocation is a structural chromosomal anomaly in which two acrocentric chromosomes break, resulting in the fusion of the nonhomologous chromosomes’ long arms to form a single, large chromosome.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700082		
MONDO:0700081	biolink:Disease	newborn respiratory distress syndrome	A condition beginning in the first day of life that results from inadequate surfactant production, causing increased work of breathing and impaired gas exchange.	GARD:0000112|UMLS:C0020192|ICD9:769|SCTID:46775006|UMLS:C0035220|DOID:12716|NCIT:C27560	mondo.json	respiratory distress syndrome Of newborns|respiratory distress syndrome Of newborns (RDS)|infant acute respiratory distress syndrome|respiratory distress syndrome, infant|RDS Of newborns|hyaline membrane disease|RDS - infants|infant ARDS|newborns (RDS), respiratory distress syndrome Of|pulmonary hyaline membrane disease|infant respiratory distress syndrome|RDS, respiratory distress syndrome Of newborns|RDS|neonatal respiratory distress syndrome|pulmonary hypoperfusion syndrome of newborn|respiratory distress syndrome in premature infants|respiratory distress syndrome in the newborn|RDS of prematurity|neonatal respiratory distress|NRDS|HMD - hyaline membrane disease|respiratory distress syndrome of newborn|syndrome Of newborns (RDS), respiratory distress|respiratory distress syndrome	http://purl.obolibrary.org/obo/MONDO_0700081	http://identifiers.org/snomedct/46775006|UMLS:C0035220|NCIT:C27560|DOID:12716|UMLS:C0020192	
UBERON:0005475	biolink:AnatomicalEntity	sigmoid sinus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005475		
UBERON:0005473	biolink:AnatomicalEntity	sacral region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005473		
UBERON:0005472	biolink:AnatomicalEntity	right vitelline vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005472		
HGNC:18518	biolink:NamedThing	RNASEH2A			mondo.json		http://identifiers.org/hgnc/18518		
HGNC:18514	biolink:NamedThing	SPART			mondo.json		http://identifiers.org/hgnc/18514		
MONDO:0700088	biolink:Disease	paroxysmal nonkinesigenic dyskinesia	Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.	Orphanet:98810|GARD:0008722	mondo.json	Paroxystic non-kinesigenic choreoathetosis|DYT-MR-1|Paroxysomal nonkinesigenic dyskinesia|paroxysmal non-kinesigenic dyskinesia	http://purl.obolibrary.org/obo/MONDO_0700088	Orphanet:98810	
HGNC:3642	biolink:NamedThing	FDXR			mondo.json		http://identifiers.org/hgnc/3642		
MONDO:0700087	biolink:Disease	Usher syndrome type 1B	Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene	MESH:C536485|OMIM:276900	mondo.json	Usher syndrome, type 1B	http://purl.obolibrary.org/obo/MONDO_0700087	https://omim.org/entry/276900|http://identifiers.org/mesh/C536485	
UBERON:0005478	biolink:AnatomicalEntity	sulcus limitans of neural tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005478		
HP:0025132	biolink:PhenotypicFeature	Abnormal circulating estrogen level	A deviation from normal concentration of the hormone estrogen in the blood circulation.		mondo.json	Abnormal circulating oestrogen level|Abnormal estrogen level|Abnormal oestrogen level	http://purl.obolibrary.org/obo/HP_0025132		
UBERON:0005477	biolink:AnatomicalEntity	stomach fundus epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005477		
MONDO:0700089	biolink:Disease	paroxysmal nonkinesigenic dyskinesia 1	Paroxysmal nonkinesigenic dyskinesia in which the cause of the disease is a mutation in the PNKD gene.	OMIM:118800|MedDRA:10065658|MedDRA:10065657|DOID:0090049|GARD:0008722	mondo.json	mount-reback syndrome|PNKD paroxysmal dyskinesia|choreoathetosis, familial paroxysmal|PNKD1|paroxysmal nonkinesigenic dyskinesia type 1|PxMD-PNKD|paroxysmal dystonic choreoathetosis|paroxysmal nonkinesigenic dyskinesia 1|choreoathetosis, nonkinesigenic|paroxysmal dyskinesia caused by mutation in PNKD|dystonia 8	http://purl.obolibrary.org/obo/MONDO_0700089	https://omim.org/entry/118800|DOID:0090049	ordo_disease
MONDO:0008609	biolink:Disease	Tristichiasis		OMIM:190800	mondo.json	eyelashes, three rows of|Tristichiasis	http://purl.obolibrary.org/obo/MONDO_0008609	https://omim.org/entry/190800	
MONDO:0008608	biolink:Disease	Down syndrome	Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.	NIFSTD:nlx_dys_20090502|NCIT:C2993|Orphanet:870|MedDRA:10044688|GARD:0010247|DOID:14250|OMIM:190685|MESH:D004314|UMLS:C0013080|ICD9:758.0|EFO:0001064|SCTID:41040004	mondo.json	Down's syndrome - trisomy 21|Downs syndrome|transient myeloproliferative disorder of Down syndrome|G trisomy|trisomy 21 (Down syndrome)|trisomy 21|Down syndrome chromosome region|trisomy 21 syndrome|Down syndrome|complete trisomy 21 syndrome|Down's syndrome|Down syndrome critical region|leukemia, megakaryoblastic, with or without Down syndrome, somatic|Down syndrome, Isolated cases|leukemia, megakaryoblastic, of Down syndrome	http://purl.obolibrary.org/obo/MONDO_0008608	http://identifiers.org/mesh/D004314|UMLS:C0013080|NCIT:C2993|DOID:14250|Orphanet:870|https://omim.org/entry/190685|http://identifiers.org/snomedct/41040004	ordo_malformation_syndrome
MONDO:0700094	biolink:Disease	unbalanced Robertsonian translocation Down syndrome	Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occured with loss of chromosomal material between the two nonhomologous chromosomes.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700094		
MONDO:0008607	biolink:Disease	triphalangeal thumbs-brachyectrodactyly syndrome	Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant.	UMLS:C1860804|GARD:0005290|MESH:C536564|Orphanet:2947|OMIM:190680	mondo.json	triphalangeal thumb and brachy-ectrodactyly syndrome|triphalangeal thumbs brachyectrodactyly|Carnevale-Hernández-del Castillo syndrome|triphalangeal thumb and brachyectrodactyly syndrome|triphalangeal thumbs with brachyectrodactyly	http://purl.obolibrary.org/obo/MONDO_0008607	Orphanet:2947|http://identifiers.org/mesh/C536564|UMLS:C1860804|https://omim.org/entry/190680	ordo_malformation_syndrome
MONDO:0700097	biolink:Disease	cross-species analog			mondo.json		http://purl.obolibrary.org/obo/MONDO_0700097		
MONDO:0008606	biolink:Disease	Say-field-Coldwell syndrome	Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters.	MESH:C536619|UMLS:C1860805|GARD:0000242|OMIM:190650|Orphanet:3133	mondo.json	polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence|triphalangeal thumbs and dislocation of patella|triphalangeal thumbs-dislocation of patella syndrome	http://purl.obolibrary.org/obo/MONDO_0008606	Orphanet:3133|http://identifiers.org/mesh/C536619|UMLS:C1860805|https://omim.org/entry/190650	gard_rare|ordo_malformation_syndrome
MONDO:0700096	biolink:Disease	human disease or disorder			mondo.json		http://purl.obolibrary.org/obo/MONDO_0700096		
MONDO:0008605	biolink:Disease	triphalangeal thumb, Nonopposable		OMIM:190600|UMLS:C2931238|GARD:0005288|MESH:C536562	mondo.json	non-opposable triphalangeal thumb|triphalangeal thumb non opposable|TPT|triphalangeal thumb, Nonopposable	http://purl.obolibrary.org/obo/MONDO_0008605	http://identifiers.org/mesh/C536562|https://omim.org/entry/190600|UMLS:C2931238	
MONDO:0700091	biolink:Disease	ring chromosome disorder	Chromosomal disorder in which the chromosomal anomaly consists of the presence of a ring chromosome. A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome.	NCIT:C3360|UMLS:C0035639|MESH:D012303	mondo.json	supernumerary circular chromosome	http://purl.obolibrary.org/obo/MONDO_0700091	http://identifiers.org/mesh/D012303|UMLS:C0035639|NCIT:C3360	
MONDO:0008604	biolink:Disease	triphalangeal thumb with double phalanges		MESH:C566028|OMIM:190500|UMLS:C1860807	mondo.json	triphalangeal thumb with double phalanges	http://purl.obolibrary.org/obo/MONDO_0008604	http://identifiers.org/mesh/C566028|UMLS:C1860807|https://omim.org/entry/190500	
MONDO:0700090	biolink:Disease	epilepsy, familial temporal lobe, 1	An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations.	OMIM:600512|NCIT:C141441	mondo.json	epilepsy, partial, with auditory features|epilepsy, familial temporal lobe, type 1|epilepsy, lateral temporal lobe, autosomal dominant|ETL1	http://purl.obolibrary.org/obo/MONDO_0700090	NCIT:C141441|https://omim.org/entry/600512	
MONDO:0008603	biolink:Disease	trigonocephaly 1	Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene.	OMIM:190440	mondo.json	TRIGNO1|isolated trigonocephaly caused by mutation in FGFR1|trigonocephaly type 1|trigonocephaly 1|craniosynostosis, metopic|FGFR1 isolated trigonocephaly	http://purl.obolibrary.org/obo/MONDO_0008603	https://omim.org/entry/190440	
MONDO:0700093	biolink:Disease	balanced Robertsonian translocation Down syndrome	Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occured without loss of chromosomal material between the two nonhomologous chromosomes.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700093		
MONDO:0700092	biolink:Disease	neurodevelopmental disorder	A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.	MedDRA:C1535926|SCTID:700364009|UMLS:C1535926|MESH:D065886|NCIT:C1535926	mondo.json		http://purl.obolibrary.org/obo/MONDO_0700092	http://identifiers.org/meddra/C1535926|NCIT:C1535926|http://identifiers.org/snomedct/700364009|http://identifiers.org/mesh/D065886|UMLS:C1535926	
MONDO:0008602	biolink:Disease	triglyceride storage disease, type 2		UMLS:C1860820|OMIM:190430|MESH:C566030	mondo.json	triglyceride storage disease, type II	http://purl.obolibrary.org/obo/MONDO_0008602	http://identifiers.org/mesh/C566030|UMLS:C1860820|https://omim.org/entry/190430	
HGNC:3647	biolink:NamedThing	FECH			mondo.json		http://identifiers.org/hgnc/3647		
MONDO:0008601	biolink:Disease	triglyceride storage disease, type 1		UMLS:C1860821|OMIM:190420|MESH:C566031	mondo.json	triglyceride storage disease, type I	http://purl.obolibrary.org/obo/MONDO_0008601	http://identifiers.org/mesh/C566031|UMLS:C1860821|https://omim.org/entry/190420	
CHR:9606-chr3p2	biolink:NamedThing	3p2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr3p2		
MONDO:0008600	biolink:Disease	trigger thumb	A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58).	GARD:0008484|SCTID:42786005|MESH:D052582|OMIM:190410|UMLS:C0158328	mondo.json	trigger thumb|bilateral trigger thumb (type)|congenital trigger thumb (type)|recurrent trigger thumb (type)	http://purl.obolibrary.org/obo/MONDO_0008600	UMLS:C0158328|https://omim.org/entry/190410|http://identifiers.org/mesh/D052582|http://identifiers.org/snomedct/42786005	gard_rare
UBERON:0005463	biolink:AnatomicalEntity	subcapsular sinus of lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005463		
UBERON:0005462	biolink:AnatomicalEntity	lower back			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005462		
UBERON:0005461	biolink:AnatomicalEntity	levator scapulae muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005461		
UBERON:0005460	biolink:AnatomicalEntity	left vitelline vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005460		
CHEBI:17015	biolink:ChemicalSubstance	riboflavin	D-Ribitol in which the hydroxy group at position 5 is substituted by a 7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl moiety. It is a nutritional factor found in milk, eggs, malted barley, liver, kidney, heart, and leafy vegetables, but the richest natural source is yeast. The free form occurs only in the retina of the eye, in whey, and in urine; its principal forms in tissues and cells are as flavin mononucleotide and flavin-adenine dinucleotide.		mondo.json	Flaxain|lactoflavin|Aqua-Flave|vitamin G|7,8-dimethyl-10-ribitylisoalloxazine|Flavaxin|5-deoxy-5-(7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl)-D-ribitol|7,8-dimethyl-10-[(2S,3S,4R)-2,3,4,5-tetrahydroxypentyl]benzo[g]pteridine-2,4(3H,10H)-dione|riboflavin|1-deoxy-1-(7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl)pentitol|6,7-dimethyl-9-D-ribitylisoalloxazine|Beflavin|1-deoxy-1-(7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl)-D-ribitol|Beflavine|7,8-dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)benzo[g]pteridine-2,4(3H,10H)-dione|riboflavine|Hyflavin|Flavin Bb|vitasan B2|Bisulase|Fiboflavin|7,8-dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)isoalloxazine|Dermadram|riboflavin (vit B2)|Vitamin B2|vitamin B2|E101|riboflavina|riboflavinum	http://purl.obolibrary.org/obo/CHEBI_17015		
UBERON:0005469	biolink:AnatomicalEntity	right thymus lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005469		
MONDO:0700099	biolink:Disease	adenocarcinoma, non-human animal			mondo.json		http://purl.obolibrary.org/obo/MONDO_0700099		
MONDO:0700098	biolink:Disease	neoplasm, non-human animal			mondo.json		http://purl.obolibrary.org/obo/MONDO_0700098		
MONDO:0700062	biolink:Disease	mosaic	A disease characteristic in which the cause of the disease is present in some of the cells of the organism.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700062		
MONDO:0700061	biolink:Disease	mosaic vs complete	A disease characteristic in which the cause of the disease is present in some of the cells of the organism, or in all the cells of the organism.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700061		
MONDO:0700064	biolink:Disease	aneuploidy	Chromosomal disorder consisting of the presence a chromosomal abnormality in which there is an addition or loss of chromosomes within a set.	NCIT:C2873|MESH:D000782	mondo.json	chromosome number anomaly	http://purl.obolibrary.org/obo/MONDO_0700064	NCIT:C2873|http://identifiers.org/mesh/D000782	
MONDO:0700063	biolink:Disease	complete	A disease characteristic in which the cause of the disease is present in all the cells of the organism.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700063		
MONDO:0700060	biolink:Disease	leukemia, acute, X-linked	X-linked form of acute leukemia	OMIM:308960	mondo.json		http://purl.obolibrary.org/obo/MONDO_0700060	https://omim.org/entry/308960	
NCBITaxon:41012	biolink:OrganismalEntity	Tineidae		GC_ID:1	mondo.json	clothes-moths|clothes moths|fungus moths	http://purl.obolibrary.org/obo/NCBITaxon_41012		
NCBITaxon:41011	biolink:OrganismalEntity	Tineoidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_41011		
NCBITaxon:41013	biolink:OrganismalEntity	Tinea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_41013		
UBERON:0005451	biolink:AnatomicalEntity	segment of manus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005451		
HGNC:3668	biolink:NamedThing	FGF12			mondo.json		http://identifiers.org/hgnc/3668		
MONDO:0700069	biolink:Disease	myopathy caused by variation in POMGNT2	Any myopathy in which the cause of the disease is a variation in the POMGNT2 gene.		mondo.json	myopathy caused by mutation in POMGNT2|POMGNT2 myopathy|POMGNT2-related myopathy	http://purl.obolibrary.org/obo/MONDO_0700069		
HGNC:3666	biolink:NamedThing	FGF10			mondo.json		http://identifiers.org/hgnc/3666		
MONDO:0700066	biolink:Disease	myopathy caused by variation in FKRP	Any myopathy in which the cause of the disease is a variation in the FKRP gene.		mondo.json	myopathy caused by mutation in FKRP|FKRP myopathy|FKRP-related myopathy	http://purl.obolibrary.org/obo/MONDO_0700066		
UBERON:0005457	biolink:AnatomicalEntity	left thymus lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005457		
MONDO:0700065	biolink:Disease	trisomy	A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number.	NCIT:C3421|GARD:0006065|MESH:D014314	mondo.json	chromosomal triplication	http://purl.obolibrary.org/obo/MONDO_0700065	http://identifiers.org/mesh/D014314	
UBERON:0005456	biolink:AnatomicalEntity	jugular foramen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005456		
HGNC:3663	biolink:NamedThing	FGD1			mondo.json		http://identifiers.org/hgnc/3663		
MONDO:0700068	biolink:Disease	myopathy caused by variation in POMGNT1	Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene.		mondo.json	myopathy caused by mutation in POMGNT1|POMGNT1 myopathy|POMGNT1-related myopathy	http://purl.obolibrary.org/obo/MONDO_0700068		
HGNC:3662	biolink:NamedThing	FGB			mondo.json		http://identifiers.org/hgnc/3662		
MONDO:0700067	biolink:Disease	myopathy caused by variation in FKTN	Any myopathy in which the cause of the disease is a variation in the FKTN gene.		mondo.json	myopathy caused by mutation in FKTN|FKTN myopathy|FKTN-related myopathy	http://purl.obolibrary.org/obo/MONDO_0700067		
HGNC:3661	biolink:NamedThing	FGA			mondo.json		http://identifiers.org/hgnc/3661		
MONDO:0700073	biolink:Disease	glutaric acidemia IIa	Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFA gene.	OMIM:231680	mondo.json	multiple acyl-CoA dehydrogenase deficiency caused by mutation in ETFA|GA2A|glutaric acidemia 2A|ETFA deficiency	http://purl.obolibrary.org/obo/MONDO_0700073		
MONDO:0700075	biolink:Disease	congenital muscular dystrophy caused by variation in POMGNT2	Any congenital muscular dystrophy in which the cause of the disease is a variation in the POMGNT2 gene.		mondo.json	congenital muscular dystrophy-POMGNT2 related|congenital muscular dystrophy caused by mutation in POMGNT2	http://purl.obolibrary.org/obo/MONDO_0700075		
MONDO:0700074	biolink:Disease	glutaric acidemia IIb	Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFB gene.	OMIM:231680	mondo.json	glutaric acidemia 2B|GA2B|ETFB deficiency|multiple acyl-CoA dehydrogenase deficiency caused by mutation in ETFB	http://purl.obolibrary.org/obo/MONDO_0700074		
MONDO:0700071	biolink:Disease	myopathy caused by variation in POMT2	Any myopathy in which the cause of the disease is a variation in the POMT2 gene.		mondo.json	POMT2 myopathy|myopathy caused by mutation in POMT2|POMT2-related myopathy	http://purl.obolibrary.org/obo/MONDO_0700071		
MONDO:0700070	biolink:Disease	myopathy caused by variation in POMT1	Any myopathy in which the cause of the disease is a variation in the POMT1 gene.		mondo.json	POMT1 myopathy|POMT1-related myopathy|myopathy caused by mutation in POMT1	http://purl.obolibrary.org/obo/MONDO_0700070		
HP:0001156	biolink:PhenotypicFeature	Brachydactyly	Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.	UMLS:C0221357|SNOMEDCT_US:43476002|MSH:D059327	mondo.json	Brachydactyly syndrome|Short fingers or toes	http://purl.obolibrary.org/obo/HP_0001156		
HGNC:3671	biolink:NamedThing	FGF14			mondo.json		http://identifiers.org/hgnc/3671		
HP:0001155	biolink:PhenotypicFeature	Abnormality of the hand	An abnormality affecting one or both hands.	MSH:D006226|UMLS:C0018564|SNOMEDCT_US:299033004	mondo.json	Abnormal hands|Hand deformities|Hand anomalies|Abnormality of the hand	http://purl.obolibrary.org/obo/HP_0001155		hposlim_core
HP:0001159	biolink:PhenotypicFeature	Syndactyly	Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".	Fyler:4174|MSH:D013576|SNOMEDCT_US:373413006|UMLS:C0039075	mondo.json	Webbed fingers or toes	http://purl.obolibrary.org/obo/HP_0001159		
HGNC:18505	biolink:NamedThing	RNF43			mondo.json		http://identifiers.org/hgnc/18505		
HGNC:3677	biolink:NamedThing	FGF20			mondo.json		http://identifiers.org/hgnc/3677		
HGNC:1014	biolink:NamedThing	BCR			mondo.json		http://identifiers.org/hgnc/1014		
UBERON:0005448	biolink:AnatomicalEntity	greater omentum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005448		
HGNC:18501	biolink:NamedThing	RPS4Y2			mondo.json		http://identifiers.org/hgnc/18501		
MONDO:0700077	biolink:Disease	vitiligo-associated multiple autoimmune disease susceptibility 6		OMIM:193200	mondo.json	VAMAS6	http://purl.obolibrary.org/obo/MONDO_0700077	https://omim.org/entry/193200	
HGNC:1012	biolink:NamedThing	OPN1SW			mondo.json		http://identifiers.org/hgnc/1012		
UBERON:0005446	biolink:AnatomicalEntity	foramen rotundum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005446		
MONDO:0700076	biolink:Disease	glutaric acidemia IIc	Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFDH gene.	OMIM:231680	mondo.json	ETFDH deficiency|glutaric acidemia 2C|multiple acyl-CoA dehydrogenase deficiency caused by mutation in ETFDH|GA2C	http://purl.obolibrary.org/obo/MONDO_0700076		
HP:0001153	biolink:PhenotypicFeature	Septate vagina	The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.	UMLS:C0266411|SNOMEDCT_US:47054003	mondo.json	Double vagina	http://purl.obolibrary.org/obo/HP_0001153		
UBERON:0005445	biolink:AnatomicalEntity	segment of pes			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005445		
MONDO:0700079	biolink:Disease	hormone receptor-positive breast cancer	A breast carcinoma which is positive for expression of estrogen receptor (ER), progesterone receptor (PR), and is negative for expression of human epidermal growth factor receptor 2 (HER2).	UMLS:C5442556|NCIT:C157056	mondo.json	HR-positive HER2-negative breast cancer	http://purl.obolibrary.org/obo/MONDO_0700079	UMLS:C5442556	
HGNC:3673	biolink:NamedThing	FGF17			mondo.json		http://identifiers.org/hgnc/3673		
HGNC:3672	biolink:NamedThing	FGF16			mondo.json		http://identifiers.org/hgnc/3672		
MONDO:0700078	biolink:Disease	triple-positive breast carcinoma	A breast carcinoma which is positive for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2).	UMLS:C5243562|NCIT:C118311	mondo.json	hormone receptor positive her2 positive breast cancer|triple positive breast cancer|HR-positive HER2 positive breast cancer	http://purl.obolibrary.org/obo/MONDO_0700078	NCIT:C118311|UMLS:C5243562	
MONDO:0008639	biolink:Disease	vascular helix of umbilical cord		OMIM:192300	mondo.json	vascular helix of umbilical cord	http://purl.obolibrary.org/obo/MONDO_0008639	https://omim.org/entry/192300	
MONDO:0008638	biolink:Disease	varicose disease	A vascular disease characterized by the presence of enlarged and tortuous veins.	NCIT:C35114|DOID:799|OMIM:192200|MESH:D014648|ICD9:456.8|ICD9:454.9|SCTID:128060009|UMLS:C0042345	mondo.json	varicose veins|Venous ectasia|Venous varices|varix|varices	http://purl.obolibrary.org/obo/MONDO_0008638	http://identifiers.org/mesh/D014648|UMLS:C0042345|https://omim.org/entry/192200|DOID:799|http://identifiers.org/snomedct/128060009|NCIT:C35114	
MONDO:0008637	biolink:Disease	bifid uvula	Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.	OMIM:192100|Orphanet:99771|SCTID:18910001	mondo.json	bifidity of the uvula|uvula, bifid|uvula, cleft|uvular cleft	http://purl.obolibrary.org/obo/MONDO_0008637	https://omim.org/entry/192100|Orphanet:99771|http://identifiers.org/snomedct/18910001	ordo_morphological_anomaly
MONDO:0008636	biolink:Disease	double uterus-hemivagina-renal agenesis syndrome	Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present.	SCTID:722431007|MESH:C566010|Orphanet:3411|OMIM:192050	mondo.json	uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis|Double uterus and obstructed hemivagina syndrome|Wunderlich syndrome|obstructed hemivagina and ipsilateral renal anomaly|Herlyn-Werner syndrome|OHVIRA syndrome	http://purl.obolibrary.org/obo/MONDO_0008636	https://omim.org/entry/192050|Orphanet:3411|http://identifiers.org/snomedct/722431007|http://identifiers.org/mesh/C566010	ordo_malformation_syndrome
MONDO:0008635	biolink:Disease	uterine anomalies		OMIM:192000|MESH:C562565	mondo.json	uterine anomalies	http://purl.obolibrary.org/obo/MONDO_0008635	https://omim.org/entry/192000|http://identifiers.org/mesh/C562565	
MONDO:0008634	biolink:Disease	urticaria, familial localized heat		OMIM:191950|UMLS:C1860551|MESH:C566011	mondo.json	urticaria, familial localized heat	http://purl.obolibrary.org/obo/MONDO_0008634	UMLS:C1860551|https://omim.org/entry/191950|http://identifiers.org/mesh/C566011	
MONDO:0008633	biolink:Disease	Muckle-Wells syndrome	Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).	UMLS:C0268390|NCIT:C119054|MedDRA:10064569|SCTID:402417009|UMLS:C1304205|ICD9:708.8|GARD:0008472|OMIM:191900|DOID:0050854|Orphanet:575	mondo.json	urticaria, deafness and amyloidosis|urticaria-deafness-amyloidosis syndrome|Cryopyrin-associated periodic syndrome 2|Muckle Wells syndrome|MUCKLE-Wells syndrome|Uda syndrome|neutrophilic urticaria|Muckle-Wells syndrome|MWS	http://purl.obolibrary.org/obo/MONDO_0008633	Orphanet:575|http://identifiers.org/snomedct/402417009|DOID:0050854|https://omim.org/entry/191900|NCIT:C119054|UMLS:C0268390|UMLS:C1304205	ordo_disease
MONDO:0008632	biolink:Disease	urticaria, aquagenic	Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success.	MESH:C562481|OMIM:191850|SCTID:89870006|GARD:0010901|ICD9:708.8|UMLS:C0263334	mondo.json	urticaria, aquagenic|aquagenic urticaria	http://purl.obolibrary.org/obo/MONDO_0008632	http://identifiers.org/snomedct/89870006|UMLS:C0263334|https://omim.org/entry/191850|http://identifiers.org/mesh/C562481	gard_rare
MONDO:0008631	biolink:Disease	obsolete renal agenesis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008631		
MONDO:0008630	biolink:Disease	urinary bladder, atony of		OMIM:191800	mondo.json	bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT|atony of urinary bladder|urinary bladder, atony of	http://purl.obolibrary.org/obo/MONDO_0008630	https://omim.org/entry/191800	
HGNC:3681	biolink:NamedThing	FGF3			mondo.json		http://identifiers.org/hgnc/3681		
HGNC:1020	biolink:NamedThing	BCS1L			mondo.json		http://identifiers.org/hgnc/1020		
HGNC:3680	biolink:NamedThing	FGF23			mondo.json		http://identifiers.org/hgnc/3680		
HGNC:3689	biolink:NamedThing	FGFR2			mondo.json		http://identifiers.org/hgnc/3689		
HGNC:3688	biolink:NamedThing	FGFR1			mondo.json		http://identifiers.org/hgnc/3688		
HGNC:3687	biolink:NamedThing	FGF9			mondo.json		http://identifiers.org/hgnc/3687		
MONDO:0021605	biolink:Disease	benign eyelid neoplasm	A non-metastasizing neoplasm that arises from the upper or lower eyelid.	UMLS:C0339107|SCTID:231824001|NCIT:C4354	mondo.json	benign tumor of eyelid|benign tumor of the eyelid|benign neoplasm of eyelid|eyelid benign neoplasm|benign neoplasm of the eyelid|benign eyelid tumor|benign eyelid neoplasm	http://purl.obolibrary.org/obo/MONDO_0021605	NCIT:C4354|http://identifiers.org/snomedct/231824001|UMLS:C0339107	
HGNC:3686	biolink:NamedThing	FGF8			mondo.json		http://identifiers.org/hgnc/3686		
MONDO:0021607	biolink:Disease	eyelid seborrheic keratosis	A seborrheic keratosis that involves the eyelid.	UMLS:C0339109|SCTID:231826004|NCIT:C4356	mondo.json	eyelid basal cell papilloma|eyelid seborrheic keratosis|seborrheic keratosis of eyelid|seborrheic keratosis of the eyelid|basal cell papilloma of eyelid|basal cell papilloma of the eyelid	http://purl.obolibrary.org/obo/MONDO_0021607	NCIT:C4356|http://identifiers.org/snomedct/231826004|UMLS:C0339109	
HGNC:3683	biolink:NamedThing	FGF5			mondo.json		http://identifiers.org/hgnc/3683		
MONDO:0008649	biolink:Disease	venular insufficiency, systemic		OMIM:192700|MESH:C566004|UMLS:C1860465	mondo.json	venular insufficiency, systemic	http://purl.obolibrary.org/obo/MONDO_0008649	UMLS:C1860465|https://omim.org/entry/192700|http://identifiers.org/mesh/C566004	
MONDO:0008648	biolink:Disease	ventricular tachycardia, familial	An instance of ventricular tachycardia that is caused by an inherited modification of the individual's genome.	GARD:0002263|SCTID:233906007|OMIM:192605	mondo.json	familial ventricular tachycardia|ventricular tachycardia, familial polymorphic|ventricular tachycardia, familial|hereditary ventricular tachycardia|ventricular tachycardia, idiopathic	http://purl.obolibrary.org/obo/MONDO_0008648	https://omim.org/entry/192605|http://identifiers.org/snomedct/233906007	
MONDO:0008647	biolink:Disease	hypertrophic cardiomyopathy 1	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.	DOID:0110307|OMIM:192600	mondo.json	asymmetric septal Hypertrophy|cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant|cardiomyopathy, familial hypertrophic, type 1|cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant|cardiomyopathy, familial hypertrophic 1|CMH1|cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant|MYH7 hypertrophic cardiomyopathy|Cmh|hypertrophic subaortic stenosis, idiopathic|cardiomyopathy, familial hypertrophic, 1|hypertrophic cardiomyopathy caused by mutation in MYH7|hypertrophic cardiomyopathy type 1|hypertrophic cardiomyopathy 1|ventricular Hypertrophy, hereditary	http://purl.obolibrary.org/obo/MONDO_0008647	https://omim.org/entry/192600|DOID:0110307	
MONDO:0008646	biolink:Disease	obsolete long QT syndrome 1			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008646		
MONDO:0008645	biolink:Disease	ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome	This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence.	OMIM:192445|SCTID:719823007|Orphanet:3201|MESH:C537497|GARD:0005472	mondo.json	Stoll-Kieny-Dott syndrome|ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence|ventricular extrasystoles with syncope, perodactyly, and ROBIN sequence|ventricular extrasystoles perodactyly Robin sequence	http://purl.obolibrary.org/obo/MONDO_0008645	https://omim.org/entry/192445|Orphanet:3201|http://identifiers.org/mesh/C537497|http://identifiers.org/snomedct/719823007	ordo_malformation_syndrome
MONDO:0008644	biolink:Disease	velocardiofacial syndrome	A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.	MESH:D004062|ICD9:758.32|DOID:12583|UMLS:CN205308|OMIM:192430	mondo.json	Shprintzen syndrome|chromosome 22Q11.2 deletion syndrome|VCF syndrome|22q11 deletion syndrome|deletion 22q11.2 syndrome|VCF-velocardiofacial syndrome|velocardiofacial syndrome|Shprintzen VCF syndrome	http://purl.obolibrary.org/obo/MONDO_0008644	https://omim.org/entry/192430|UMLS:CN205308|DOID:12583	
MONDO:0008643	biolink:Disease	veins, pattern of, on anterior thorax		OMIM:192400	mondo.json	veins, pattern of, on anterior thorax	http://purl.obolibrary.org/obo/MONDO_0008643	https://omim.org/entry/192400	
MONDO:0008642	biolink:Disease	VACTERL/vater association	VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.	MedDRA:10066022|UMLS:CN206312|DOID:14679|UMLS:C1735591|GARD:0005443|SCTID:27742002|NCIT:C99105|MedDRA:10053665|ICD9:759.89|OMIM:192350|UMLS:C0220708|Orphanet:887	mondo.json	VACTERL association|VATER/VACTERL association|vertebral abnormalities, anal atresia, Cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome|VATER syndrome|VATER association	http://purl.obolibrary.org/obo/MONDO_0008642	DOID:14679|UMLS:C1735591|Orphanet:887|UMLS:CN206312|UMLS:C0220708|http://identifiers.org/snomedct/27742002|https://omim.org/entry/192350|NCIT:C99105	ordo_malformation_syndrome
MONDO:0008641	biolink:Disease	retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.	SCTID:721141004|DOID:0111567|GARD:0001217|GARD:0010535|MESH:C566007|OMIM:192315|SCTID:720854004|Orphanet:247691|GARD:0002558|UMLS:C1860518	mondo.json	grand Kaine fulling syndrome|ADRVCL|hereditary vascular retinopathy|retinal vasculopathy and cerebral leukoencephalopathy|vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations|RVCL|RVCL-S|cerebroretinal vasculopathy, hereditary|grand-Kaine-fulling syndrome|autosomal dominant retinal vasculopathy with cerebral leukodystrophy|cerebroretinal vasculopathy|CRV|retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena|retinal vasculopathy with cerebral leukodystrophy|HVR|vasculopathy, retinal, with cerebral leukodystrophy	http://purl.obolibrary.org/obo/MONDO_0008641	http://identifiers.org/snomedct/720854004|Orphanet:247691|http://identifiers.org/mesh/C566007|UMLS:C1860518|https://omim.org/entry/192315|DOID:0111567	ordo_disease|gard_rare
MONDO:0008640	biolink:Disease	vasculitis, lymphocytic, nodular	Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis.	GARD:0006941|OMIM:192310|UMLS:C1860519|MESH:C566008	mondo.json	vasculitis lymphocytic, nodular|vasculitis, lymphocytic, nodular|lymphocytic vasculitis	http://purl.obolibrary.org/obo/MONDO_0008640	http://identifiers.org/mesh/C566008|UMLS:C1860519|https://omim.org/entry/192310	gard_rare
HGNC:3693	biolink:NamedThing	FGFRL1			mondo.json		http://identifiers.org/hgnc/3693		
HGNC:3690	biolink:NamedThing	FGFR3			mondo.json		http://identifiers.org/hgnc/3690		
HGNC:1037	biolink:NamedThing	CFB			mondo.json		http://identifiers.org/hgnc/1037		
HGNC:3694	biolink:NamedThing	FGG			mondo.json		http://identifiers.org/hgnc/3694		
HGNC:1033	biolink:NamedThing	BDNF			mondo.json		http://identifiers.org/hgnc/1033		
MONDO:0008619	biolink:Disease	ulna metaphyseal dysplasia syndrome	Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.	Orphanet:1837|MESH:C536935|UMLS:C1860615|SCTID:715242008|OMIM:191420|GARD:0004740	mondo.json	Rosenberg Lohr syndrome|metaphyseal chondroplasia Rosenberg type|Rosenberg-Lohr syndrome|metaphyseal chondrodysplasia, Rosenberg type|hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna|ulna metaphyseal dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0008619	Orphanet:1837|UMLS:C1860615|http://identifiers.org/snomedct/715242008|http://identifiers.org/mesh/C536935|https://omim.org/entry/191420	gard_rare|ordo_disease
MONDO:0008618	biolink:Disease	mesomelic dwarfism, Reinhardt-Pfeiffer type	Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.	UMLS:C1860616|MESH:C537349|Orphanet:2634|GARD:0003555|OMIM:191400|SCTID:715472000	mondo.json	hypoplasia of ulna and fibula|mesomelic dysplasia Reinhardt-Pfeiffer type|ulna and fibula, hypoplasia OF|mesomelic dwarfism of hypoplastic ulna and fibula type|Reinhardt-Pfeiffer syndrome|Reinhardt-Pfeiffer mesomelic dysplasia	http://purl.obolibrary.org/obo/MONDO_0008618	http://identifiers.org/snomedct/715472000|Orphanet:2634|http://identifiers.org/mesh/C537349|UMLS:C1860616|https://omim.org/entry/191400	ordo_malformation_syndrome
MONDO:0008617	biolink:Disease	inflammatory bowel disease 11	An inflammatory bowel disease that has material basis in variation in the chromosome region 7q22.	OMIM:191390|UMLS:C2674051|MESH:C567154|DOID:0110894	mondo.json	IBD11|inflammatory bowel disease type 11|inflammatory bowel disease 11	http://purl.obolibrary.org/obo/MONDO_0008617	http://identifiers.org/mesh/C567154|UMLS:C2674051|https://omim.org/entry/191390|DOID:0110894	
MONDO:0008616	biolink:Disease	obsolete twinning due to superfetation		MESH:C566018|OMIM:191250	mondo.json	superfetation twinning|twinning due to superfetation	http://purl.obolibrary.org/obo/MONDO_0008616	http://identifiers.org/mesh/C566018|https://omim.org/entry/191250	
MONDO:0008615	biolink:Disease	tune deafness		UMLS:C1860646|MESH:C566019|SCTID:55647004|OMIM:191200|ICD9:389.8	mondo.json	Dysmelodia|tone deafness|tune deafness|amusia, congenital	http://purl.obolibrary.org/obo/MONDO_0008615	http://identifiers.org/mesh/C566019|UMLS:C1860646|https://omim.org/entry/191200|http://identifiers.org/snomedct/55647004	
MONDO:0008614	biolink:Disease	suppressor of tumorigenicity 3		OMIM:191181|UMLS:C1860658	mondo.json	ST3|tumor-suppressor Gene, Hela cell type|cervical carcinoma, tumor-suppressor Gene involved 1N|cervical carcinoma|suppressor of tumorigenicity 3	http://purl.obolibrary.org/obo/MONDO_0008614	UMLS:C1860658|https://omim.org/entry/191181	
MONDO:0008613	biolink:Disease	Tuftsin deficiency		MESH:C562872|ICD9:279.03|SCTID:234584007|UMLS:C0398741|OMIM:191150	mondo.json	Tuftsin deficiency	http://purl.obolibrary.org/obo/MONDO_0008613	http://identifiers.org/snomedct/234584007|UMLS:C0398741|https://omim.org/entry/191150|http://identifiers.org/mesh/C562872	
MONDO:0008612	biolink:Disease	tuberous sclerosis 1	Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene).	NCIT:C75122|DOID:0080324|OMIM:191100|GARD:0005380|MESH:C565346	mondo.json	tuberous sclerosis 1|tuberous sclerosis Complex|tuberous sclerosis-1|tuberous sclerosis caused by mutation in TSC1|TSC1|tuberous sclerosis type 1|tuberous sclerosis, type 1|tuberose sclerosis|TSC1 tuberous sclerosis	http://purl.obolibrary.org/obo/MONDO_0008612	DOID:0080324|NCIT:C75122|http://identifiers.org/mesh/C565346|https://omim.org/entry/191100	gard_rare
MONDO:0008611	biolink:Disease	humerus trochlea aplasia	Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.	UMLS:C1860773|GARD:0002750|MESH:C566022|SCTID:732928005|Orphanet:3383|OMIM:191000	mondo.json	trochlea of the HUMERUS, aplasia OF|aplasia of trochlea of the humerus|trochlea of the humerus aplasia of	http://purl.obolibrary.org/obo/MONDO_0008611	http://identifiers.org/snomedct/732928005|http://identifiers.org/mesh/C566022|UMLS:C1860773|https://omim.org/entry/191000|Orphanet:3383	gard_rare|ordo_malformation_syndrome
MONDO:0008610	biolink:Disease	blue color blindness	Tritanopia is an extremely rare form of colour blindness characterised by a selective deficiency of blue vision.	ICD9:368.53|SCTID:51886007|OMIM:190900|Orphanet:88629|DOID:11661|UMLS:C0155017	mondo.json	blue colorblindness|congenital tritanopia|colorblindness, tritanopic|tritanopia|tritan defect|tritan colour blindness|colorblindness, tritan|blue colour blindness	http://purl.obolibrary.org/obo/MONDO_0008610	UMLS:C0155017|http://identifiers.org/snomedct/51886007|https://omim.org/entry/190900|DOID:11661|Orphanet:88629	ordo_disease
HGNC:1041	biolink:NamedThing	BFSP2			mondo.json		http://identifiers.org/hgnc/1041		
UBERON:0005497	biolink:AnatomicalEntity	non-neural ectoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005497		
UBERON:0005496	biolink:AnatomicalEntity	neural tube lateral wall			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005496		
HGNC:1040	biolink:NamedThing	BFSP1			mondo.json		http://identifiers.org/hgnc/1040		
UBERON:0005492	biolink:AnatomicalEntity	hyaloid vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005492		
CHR:9606-chr3q1	biolink:NamedThing	3q1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr3q1		
UBERON:0005491	biolink:AnatomicalEntity	glossopharyngeal neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005491		
CHEBI:32600	biolink:ChemicalSubstance	tetracene	An acene that consists of four ortho-fused benzene rings in a rectilinear arrangement.		mondo.json	benz[b]anthracene|tetracene|2,3-benzanthracene|naphthacene	http://purl.obolibrary.org/obo/CHEBI_32600		
CHR:9606-chr3q2	biolink:NamedThing	3q2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr3q2		
HP:0025153	biolink:PhenotypicFeature	Transient	Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration.		mondo.json		http://purl.obolibrary.org/obo/HP_0025153		
UBERON:0005499	biolink:AnatomicalEntity	rhombomere 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005499		
UBERON:0005498	biolink:AnatomicalEntity	primitive heart tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005498		
HGNC:1044	biolink:NamedThing	BGN			mondo.json		http://identifiers.org/hgnc/1044		
MONDO:0008629	biolink:Disease	urolithiasis, uric acid, autosomal dominant		DOID:0080654|OMIM:191700	mondo.json	urolithiasis, uric acid, autosomal dominant|nephrolithiasis, uric acid, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008629	DOID:0080654|https://omim.org/entry/191700	
MONDO:0008628	biolink:Disease	ureterocele	A cystic and dysplastic dilation of the distal ureter within the bladder that may extend into the bladder neck and urethra.	DOID:4022|HP:0000070|ICD9:593.89|SCTID:12818004|MedDRA:10056433|MESH:D014518|OMIM:191650|NCIT:C123159|EFO:1001227	mondo.json	ureterocele (disease)|ureterocele	http://purl.obolibrary.org/obo/MONDO_0008628	http://identifiers.org/mesh/D014518|http://identifiers.org/snomedct/12818004|DOID:4022|https://omim.org/entry/191650|NCIT:C123159	
MONDO:0008627	biolink:Disease	ureter cancer	A malignant neoplasm involving the ureter	MESH:D014516|ICD10CM:C66|NCIT:C7543|OMIM:191600|ICD9:189.2|SCTID:363458004|UMLS:C0153619|DOID:11819	mondo.json	ureter, cancer OF|malignant ureteral neoplasm|malignant tumor of ureter|cancer of ureter|malignant tumor of the ureter|ureter cancer|malignant ureter neoplasm|malignant tumour of ureter|malignant neoplasm of ureter|malignant ureter tumor|malignant ureteral tumor|malignant neoplasm of the ureter	http://purl.obolibrary.org/obo/MONDO_0008627	http://identifiers.org/mesh/D014516|http://purl.bioontology.org/ontology/ICD10CM/C66|NCIT:C7543|https://omim.org/entry/191600|http://identifiers.org/snomedct/363458004|DOID:11819|UMLS:C0153619	
MONDO:0008626	biolink:Disease	ureter, bifid or double		UMLS:C1860586|MESH:C566012|OMIM:191550	mondo.json	ureter, bifid or double	http://purl.obolibrary.org/obo/MONDO_0008626	http://identifiers.org/mesh/C566012|UMLS:C1860586|https://omim.org/entry/191550	
MONDO:0008625	biolink:Disease	obsolete urate-binding globulin, decrease 1N		UMLS:C1860587|MESH:C566013|OMIM:191530	mondo.json	urate-binding globulin, decrease type 1N|urate-binding globulin, decrease IN	http://purl.obolibrary.org/obo/MONDO_0008625	http://identifiers.org/mesh/C566013|UMLS:C1860587|https://omim.org/entry/191530	
MONDO:0008624	biolink:Disease	Upington disease	Upington disease is characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant.	SCTID:719041000|OMIM:191520|UMLS:C1860596|GARD:0005421|MESH:C536472|Orphanet:3408	mondo.json	familial dyschondroplasia|Perthes-like hip disease, enchondromata, and Ecchondromata|Upington disease|hip dysplasia-enchondromata-ecchondroma syndrome	http://purl.obolibrary.org/obo/MONDO_0008624	UMLS:C1860596|http://identifiers.org/mesh/C536472|https://omim.org/entry/191520|Orphanet:3408|http://identifiers.org/snomedct/719041000	gard_rare|ordo_malformation_syndrome
MONDO:0008623	biolink:Disease	Undritz anomaly		MESH:C566014|OMIM:191500|UMLS:C1860604	mondo.json	Undritz anomaly|hypersegmentation of nuclei of polymorphonuclear leukocytes	http://purl.obolibrary.org/obo/MONDO_0008623	UMLS:C1860604|https://omim.org/entry/191500|http://identifiers.org/mesh/C566014	
MONDO:0008622	biolink:Disease	tricho-retino-dento-digital syndrome	Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.	Orphanet:1264|MESH:C536576|SCTID:719910004|GARD:0000938|OMIM:191482|UMLS:C1860605	mondo.json	Bork syndrome|uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome|Bork Stender Schmidt syndrome|uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly	http://purl.obolibrary.org/obo/MONDO_0008622	Orphanet:1264|UMLS:C1860605|http://identifiers.org/mesh/C536576|https://omim.org/entry/191482|http://identifiers.org/snomedct/719910004	ordo_malformation_syndrome
MONDO:0008621	biolink:Disease	uncombable hair syndrome	Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.	GARD:0005404|MESH:C536939|Orphanet:1410|UMLS:C0432347|SCTID:254230001	mondo.json	unmanageable hair syndrome|uncombable hair syndrome|spun glass hair|pili trianguli et canaliculi|cheveux incoiffables	http://purl.obolibrary.org/obo/MONDO_0008621	Orphanet:1410|http://identifiers.org/snomedct/254230001|UMLS:C0432347|http://identifiers.org/mesh/C536939	gard_rare|ordo_disease
CL:0019031	biolink:Cell	intestine goblet cell	Goblet cells reside throughout the length of the small and large intestine and are responsible for the production and maintenance of the protective mucus blanket by synthesizing and secreting high-molecular-weight glycoproteins known as mucins. Human intestinal goblet cells secrete the MUC2 mucin, as well as a number of typical mucus components: CLCA1, FCGBP, AGR2, ZG16, and TFF3.		mondo.json	intestinal goblet cell	http://purl.obolibrary.org/obo/CL_0019031		
MONDO:0008620	biolink:Disease	upper limb mesomelic dysplasia	This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.	Orphanet:2497|OMIM:191440|MESH:C538069|GARD:0002408	mondo.json	upper limb mesomelic dysplasia|Fryns-Hofkens-Fabry syndrome|ulnar hypoplasia|ulna hypoplasia|Fryns Hofkens Fabry syndrome	http://purl.obolibrary.org/obo/MONDO_0008620	https://omim.org/entry/191440|http://identifiers.org/mesh/C538069|Orphanet:2497	ordo_malformation_syndrome
UBERON:0005486	biolink:AnatomicalEntity	venous dural sinus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005486		
HGNC:1052	biolink:NamedThing	BIN1			mondo.json		http://identifiers.org/hgnc/1052		
GO:0043604	biolink:NamedThing	amide biosynthetic process	The chemical reactions and pathways resulting in the formation of an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group.		mondo.json		http://purl.obolibrary.org/obo/GO_0043604		
UBERON:0005484	biolink:AnatomicalEntity	tricuspid valve leaflet			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005484		
UBERON:0005483	biolink:AnatomicalEntity	thymus lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005483		
GO:0043603	biolink:NamedThing	cellular amide metabolic process	The chemical reactions and pathways involving an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group, as carried out by individual cells.		mondo.json	amide metabolism	http://purl.obolibrary.org/obo/GO_0043603		
HGNC:1058	biolink:NamedThing	BLM			mondo.json		http://identifiers.org/hgnc/1058		
HGNC:1059	biolink:NamedThing	BLMH			mondo.json		http://identifiers.org/hgnc/1059		
HP:0001197	biolink:PhenotypicFeature	Abnormality of prenatal development or birth	An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.	UMLS:C4025797	mondo.json	Abnormality of prenatal development or birth	http://purl.obolibrary.org/obo/HP_0001197		
HP:0025142	biolink:PhenotypicFeature	Constitutional symptom	A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.		mondo.json		http://purl.obolibrary.org/obo/HP_0025142		
HGNC:1057	biolink:NamedThing	BLK			mondo.json		http://identifiers.org/hgnc/1057		
CHEBI:78017	biolink:ChemicalSubstance	food propellant	A propellant that is used to expel foods from an aerosol container.		mondo.json	food propellants	http://purl.obolibrary.org/obo/CHEBI_78017		
UBERON:0005487	biolink:AnatomicalEntity	vitelline vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005487		
GO:0006665	biolink:NamedThing	sphingolipid metabolic process	The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid).		mondo.json	sphingolipid metabolism	http://purl.obolibrary.org/obo/GO_0006665		
GO:0004000	biolink:NamedThing	adenosine deaminase activity	Catalysis of the reaction: adenosine + H2O = inosine + NH3.		mondo.json	adenosine deaminase reaction|adenosine aminohydrolase activity	http://purl.obolibrary.org/obo/GO_0004000		
GO:0006664	biolink:NamedThing	glycolipid metabolic process	The chemical reactions and pathways involving glycolipids, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar group acylated by one or more fatty acids and the glycerol group may be absent.		mondo.json	glycolipid metabolism	http://purl.obolibrary.org/obo/GO_0006664		
GO:0006661	biolink:NamedThing	phosphatidylinositol biosynthetic process	The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol.		mondo.json	phosphatidylinositol synthesis|phosphatidylinositol formation|phosphatidylinositol biosynthesis|phosphoinositide biosynthetic process|phosphoinositide biosynthesis|PtdIns biosynthetic process|phosphatidylinositol anabolism|PtdIns biosynthesis	http://purl.obolibrary.org/obo/GO_0006661		
GO:0006662	biolink:NamedThing	glycerol ether metabolic process	The chemical reactions and pathways involving glycerol ethers, any anhydride formed between two organic hydroxy compounds, one of which is glycerol.		mondo.json	glycerol ether metabolism	http://purl.obolibrary.org/obo/GO_0006662		
MONDO:0700008	biolink:Disease	chromosome 1 disorder	Chromosomal disorder in which chromosome 1 is affected.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700008		
MONDO:0700007	biolink:Disease	idiopathic disease	A disease or disorder for which the cause is of uncertain or unknown.		mondo.json	idiopathic disorder	http://purl.obolibrary.org/obo/MONDO_0700007		
MONDO:0700009	biolink:Disease	chromosome 2 disorder	Chromosomal disorder in which chromosome 2 is affected.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700009		
MONDO:0700004	biolink:Disease	idiopathic vs non-idiopathic	A disease characteristic in which the cause of the disease is known or unknown.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700004		
MONDO:0700003	biolink:Disease	obstetric disorder	Disorder associated with pregnancy, childbirth, and puerperium.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700003		harrisons_view
MONDO:0700006	biolink:Disease	non-idiopathic	A disease characteristic in which the disease has a known cause.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700006		
CHEBI:30089	biolink:ChemicalSubstance	acetate	A monocarboxylic acid anion resulting from the removal of a proton from the carboxy group of acetic acid.		mondo.json	acetate|CH3-COO(-)|Ethanoat|Azetat|MeCO2 anion|ethanoate|ACETATE ION|acetic acid, ion(1-)	http://purl.obolibrary.org/obo/CHEBI_30089		
MONDO:0700005	biolink:Disease	idiopathic	A disease characteristic in which the disease has an uncertain or unknown cause.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700005		
MONDO:0700000	biolink:Disease	ALG9-associated autosomal dominant polycystic kidney disease	Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the ALG9 gene.		mondo.json	ALG9-associated ADPKD|ALG9 autosomal dominant polycystic kidney disease|ALG9-associated autosomal dominant polycystic kidney disease|autosomal dominant polycystic kidney disease caused by mutation in ALG9|ALG9 related autosomal dominant polycystic kidney disease	http://purl.obolibrary.org/obo/MONDO_0700000		
NCBITaxon:7496	biolink:OrganismalEntity	Pterygota <insects>		GC_ID:1	mondo.json	Pterygota|winged insects	http://purl.obolibrary.org/obo/NCBITaxon_7496		
NCBITaxon:327045	biolink:OrganismalEntity	Orthoretrovirinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_327045		
PATO:0001171	biolink:NamedThing	elastic	An elasticity quality inhering in a bearer by virtue of the bearer's ability to recover its size and shape after deformation in any way.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001171		
MONDO:0700002	biolink:Disease	ATP1A3-associated neurological disorder	Any neurological disorder in which the cause of the disease is a mutation in the ATP1A3.		mondo.json	ATP1A3 related neurological disorder|neurological disorder caused by mutation in ATP1A3|ATP1A3 neurological disorder	http://purl.obolibrary.org/obo/MONDO_0700002		
MONDO:0700001	biolink:Disease	shrinking lung syndrome	A rare pulmonary complication of an underlying autoimmune disorder that is reported in association with systemic lupus erythematosus (SLE). Reduced lung volumes result in restrictive ventilatory defect and a preserved carbon monoxide transfer coefficient.		mondo.json	SLS|shrinking of the lung|small lungs	http://purl.obolibrary.org/obo/MONDO_0700001		
MONDO:0700019	biolink:Disease	chromosome 12 disorder	Chromosomal disorder in which chromosome 12 is affected.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700019		
MONDO:0700018	biolink:Disease	chromosome 11 disorder	Chromosomal disorder in which chromosome 11 is affected.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700018		
MONDO:0700015	biolink:Disease	chromosome 8 disorder	Chromosomal disorder in which chromosome 8 is affected.	UMLS:C0265418|SCTID:48082007	mondo.json	anomaly of chromosome pair 8	http://purl.obolibrary.org/obo/MONDO_0700015	http://identifiers.org/snomedct/48082007|UMLS:C0265418	
MONDO:0700014	biolink:Disease	chromosome 7 disorder	Chromosomal disorder in which chromosome 7 is affected.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700014		
MONDO:0700017	biolink:Disease	chromosome 10 disorder	Chromosomal disorder in which chromosome 10 is affected.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700017		
MONDO:0700016	biolink:Disease	chromosome 9 disorder	Chromosomal disorder in which chromosome 9 is affected.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700016		
MONDO:0700011	biolink:Disease	chromosome 4 disorder	Chromosomal disorder in which chromosome 4 is affected.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700011		
CHEBI:30099	biolink:ChemicalSubstance	diazynediium			mondo.json	diazynediium|[HNNH](2+)|HNNH(2+)	http://purl.obolibrary.org/obo/CHEBI_30099		
MONDO:0700010	biolink:Disease	chromosome 3 disorder	Chromosomal disorder in which chromosome 3 is affected.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700010		
MONDO:0700013	biolink:Disease	chromosome 6 disorder	Chromosomal disorder in which chromosome 6 is affected.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700013		
MONDO:0700012	biolink:Disease	chromosome 5 disorder	Chromosomal disorder in which chromosome 5 is affected.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700012		
GO:0006643	biolink:NamedThing	membrane lipid metabolic process	The chemical reactions and pathways involving membrane lipids, any lipid found in or associated with a biological membrane.		mondo.json	membrane lipid metabolism	http://purl.obolibrary.org/obo/GO_0006643		
GO:0006644	biolink:NamedThing	phospholipid metabolic process	The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester.		mondo.json	phospholipid metabolism	http://purl.obolibrary.org/obo/GO_0006644		
PATO:0001190	biolink:NamedThing	juvenile	A maturity quality inhering in a bearer by virtue the bearer's being not fully grown or developed.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001190		
GO:0006650	biolink:NamedThing	glycerophospholipid metabolic process	The chemical reactions and pathways involving glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue.		mondo.json	phosphoglyceride metabolic process|phosphoglyceride metabolism|glycerophospholipid metabolism|alpha-glycerophosphate pathway	http://purl.obolibrary.org/obo/GO_0006650		
MONDO:0700040	biolink:Disease	neonatal jaundice due to ABO incompatibility	Jaundice that appears during the neonatal period due to high levels of unconjugated bilirubin that are a result of maternal-fetal ABO incompatibility.	SCTID:16716281000119108	mondo.json		http://purl.obolibrary.org/obo/MONDO_0700040	http://identifiers.org/snomedct/16716281000119108	
NCBITaxon:173087	biolink:OrganismalEntity	Human papillomavirus types		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_173087		
MONDO:0700041	biolink:Disease	neuroblastoma, susceptibility to, 2		OMIM:613013	mondo.json	susceptibility to neuroblastoma 2|neuroblastoma, susceptibility to, type 2|NBLST2	http://purl.obolibrary.org/obo/MONDO_0700041	https://omim.org/entry/613013	
GO:0006624	biolink:NamedThing	vacuolar protein processing	Protein processing that takes place in the vacuole. Most protein processing in the vacuole represents proteolytic cleavage of precursors to form active enzymes.		mondo.json	vacuolar protein maturation|vacuolar proteolysis	http://purl.obolibrary.org/obo/GO_0006624		
CHEBI:29057	biolink:ChemicalSubstance	keratan			mondo.json		http://purl.obolibrary.org/obo/CHEBI_29057		
UBERON:0005431	biolink:AnatomicalEntity	anterior spinal artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005431		
NCBITaxon:90010	biolink:OrganismalEntity	unclassified Enterovirus		GC_ID:1	mondo.json	unclassified Enteroviruses	http://purl.obolibrary.org/obo/NCBITaxon_90010		
HGNC:3602	biolink:NamedThing	FBLN5			mondo.json		http://identifiers.org/hgnc/3602		
HGNC:3600	biolink:NamedThing	FBLN1			mondo.json		http://identifiers.org/hgnc/3600		
UBERON:0005437	biolink:AnatomicalEntity	conus medullaris			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005437		
MONDO:0700043	biolink:Disease	syndrome caused by partial chromosomal duplication of the short arm of chromosome 9			mondo.json		http://purl.obolibrary.org/obo/MONDO_0700043		
UBERON:0005434	biolink:AnatomicalEntity	cervical region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005434		
GO:0006629	biolink:NamedThing	lipid metabolic process	The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids.		mondo.json	lipid metabolism	http://purl.obolibrary.org/obo/GO_0006629		
UBERON:0005432	biolink:AnatomicalEntity	aortic sac			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005432		
MONDO:0700051	biolink:Disease	liver abscess (disease)	An abscess that involves the liver.	NCIT:C99089|SCTID:27916005	mondo.json	hepatic abscess|abscess of liver	http://purl.obolibrary.org/obo/MONDO_0700051	NCIT:C99089|http://identifiers.org/snomedct/27916005	
MONDO:0700052	biolink:Disease	intersphincteric abscess	An abscess contained between the internal and external anal sphincters.	SCTID:235795007	mondo.json		http://purl.obolibrary.org/obo/MONDO_0700052	http://identifiers.org/snomedct/235795007	
HGNC:3606	biolink:NamedThing	FBP1			mondo.json		http://identifiers.org/hgnc/3606		
HGNC:3604	biolink:NamedThing	FBN2			mondo.json		http://identifiers.org/hgnc/3604		
UBERON:0005419	biolink:AnatomicalEntity	pectoral appendage bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005419		
GO:0006633	biolink:NamedThing	fatty acid biosynthetic process	The chemical reactions and pathways resulting in the formation of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes.		mondo.json	fatty acid synthesis|fatty acid formation|fatty acid biosynthesis|fatty acid anabolism	http://purl.obolibrary.org/obo/GO_0006633		
HGNC:3603	biolink:NamedThing	FBN1			mondo.json		http://identifiers.org/hgnc/3603		
UBERON:0005418	biolink:AnatomicalEntity	hindlimb bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005418		
GO:0006631	biolink:NamedThing	fatty acid metabolic process	The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis.		mondo.json	fatty acid metabolism	http://purl.obolibrary.org/obo/GO_0006631		
CHEBI:29067	biolink:ChemicalSubstance	carboxylic acid anion	The conjugate base formed when the carboxy group of a carboxylic acid is deprotonated.		mondo.json	carboxylic acid anions|a carboxylate|carboxylic anions	http://purl.obolibrary.org/obo/CHEBI_29067		
NCBITaxon:716546	biolink:OrganismalEntity	leotiomyceta		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_716546		
UBERON:0005420	biolink:AnatomicalEntity	pelvic appendage bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005420		
NCBITaxon:716545	biolink:OrganismalEntity	saccharomyceta		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_716545		
UBERON:0005428	biolink:AnatomicalEntity	vagal neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005428		
UBERON:0005427	biolink:AnatomicalEntity	corneal primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005427		
UBERON:0005426	biolink:AnatomicalEntity	lens vesicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005426		
UBERON:0005425	biolink:AnatomicalEntity	presumptive neural retina			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005425		
MONDO:0700055	biolink:Disease	KIF1A related neurological disorder	KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in KIF1A		mondo.json	neurological disorder caused by variation in KIF1A|KIF1A neurological disorder|KAND|neurological disorder caused by mutation in KIF1A	http://purl.obolibrary.org/obo/MONDO_0700055		
UBERON:0005424	biolink:AnatomicalEntity	presumptive retinal pigmented epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005424		
MONDO:0700054	biolink:Disease	microcephaly 6 with or without short stature	Disorder of fetal brain growth; individuals have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Clinical features include the features of ‘microcephaly 6, primary, autosomal recessive’ and 'Seckel syndrome', and may include short stature or mild seizures.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700054		
UBERON:0005423	biolink:AnatomicalEntity	developing anatomical structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005423		
MONDO:0700057	biolink:Disease	neurological pain disorder	A nervous system disorder that has pain as a major feature.		mondo.json	neurological pain disease|neurologic pain syndrome	http://purl.obolibrary.org/obo/MONDO_0700057		
UBERON:0005422	biolink:AnatomicalEntity	pelvic appendage apical ectodermal ridge			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005422		
UBERON:0005421	biolink:AnatomicalEntity	pectoral appendage apical ectodermal ridge			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005421		
MONDO:0700020	biolink:Disease	chromosome 13 disorder	Chromosomal disorder in which chromosome 13 is affected.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700020		
HGNC:3619	biolink:NamedThing	FCGR3A			mondo.json		http://identifiers.org/hgnc/3619		
HGNC:3618	biolink:NamedThing	FCGR2B			mondo.json		http://identifiers.org/hgnc/3618		
GO:0006601	biolink:NamedThing	creatine biosynthetic process	The chemical reactions and pathways resulting in the formation of creatine, N-[amino(imino)methyl]-N-methylglycine. Creatine is formed by a process beginning with amidino group transfer from L-arginine to glycine to form guanidinoacetate, followed by methyl group transfer from S-adenosyl-L-methionine to guanidinoacetate; it is then is phosphorylated to form a pool that stores high energy phosphate for the replenishment of ATP during periods of high, or fluctuating energy demand. In animals, most creatine is transported to and used in muscle.		mondo.json	creatine formation|creatine biosynthesis|creatine anabolism|creatine synthesis	http://purl.obolibrary.org/obo/GO_0006601		
HGNC:3616	biolink:NamedThing	FCGR2A			mondo.json		http://identifiers.org/hgnc/3616		
UBERON:0005409	biolink:AnatomicalEntity	alimentary part of gastrointestinal system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005409		
UBERON:0005408	biolink:AnatomicalEntity	circumventricular organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005408		
UBERON:0005407	biolink:AnatomicalEntity	sublingual ganglion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005407		
GO:0006600	biolink:NamedThing	creatine metabolic process	The chemical reactions and pathways involving creatine (N-(aminoiminomethyl)-N-methylglycine), a compound synthesized from the amino acids arginine, glycine, and methionine that occurs in muscle.		mondo.json	creatine metabolism	http://purl.obolibrary.org/obo/GO_0006600		
MONDO:0700029	biolink:Disease	partial duplication of chromosome 13			mondo.json		http://purl.obolibrary.org/obo/MONDO_0700029		
PATO:0001154	biolink:NamedThing	elongated	A quality inhering in a bearer by virtue of the bearer's length being notably higher than its width.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001154		
HP:0001103	biolink:PhenotypicFeature	Abnormal macular morphology	A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina.	UMLS:C0730362|SNOMEDCT_US:312999006	mondo.json	Macula abnormality|Macular abnormality|Abnormality of the macula	http://purl.obolibrary.org/obo/HP_0001103		hposlim_core
MONDO:0700026	biolink:Disease	chromosome 22 disorder	Chromosomal disorder in which chromosome 22 is affected.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700026		
UBERON:0005417	biolink:AnatomicalEntity	forelimb bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005417		
MONDO:0700025	biolink:Disease	chromosome 20 disorder	Chromosomal disorder in which chromosome 20 is affected.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700025		
MONDO:0700028	biolink:Disease	chromosome Y disorder	Chromosomal disorder in which chromosome Y is affected.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700028		
HGNC:3622	biolink:NamedThing	FKTN			mondo.json		http://identifiers.org/hgnc/3622		
MONDO:0700027	biolink:Disease	chromosome X disorder	Chromosomal disorder in which chromosome X is affected.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700027		
MONDO:0700022	biolink:Disease	chromosome 15 disorder	Chromosomal disorder in which chromosome 15 is affected.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700022		
MONDO:0700021	biolink:Disease	chromosome 14 disorder	Chromosomal disorder in which chromosome 14 is affected.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700021		
CHEBI:17089	biolink:ChemicalSubstance	glycoprotein	A compound in which a carbohydrate component is covalently bound to a protein component.		mondo.json	glicoproteina|Glykoprotein|Glykoproteine|Glycoprotein|glycoproteins|glicoproteinas|a glycoprotein|glycoproteine|glycoproteines	http://purl.obolibrary.org/obo/CHEBI_17089		
UBERON:0005412	biolink:AnatomicalEntity	optic fissure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005412		
MONDO:0700024	biolink:Disease	chromosome 19 disorder	Chromosomal disorder in which chromosome 19 is affected.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700024		
UBERON:0005411	biolink:AnatomicalEntity	bony otic capsule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005411		
MONDO:0700023	biolink:Disease	chromosome 16 disorder	Chromosomal disorder in which chromosome 16 is affected.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700023		
CHEBI:17087	biolink:ChemicalSubstance	ketone	A compound in which a carbonyl group is bonded to two carbon atoms: R2C=O (neither R may be H).		mondo.json	ketones|a ketone|R-CO-R'|Keton|ketones|cetone|Ketone	http://purl.obolibrary.org/obo/CHEBI_17087		
UBERON:0005410	biolink:AnatomicalEntity	cartilaginous otic capsule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005410		
MONDO:0700031	biolink:Disease	mosaic trisomy 18	Trisomy 18 in which the presence of an extra copy of chromosome 18 is present only in some of the cells of the organism.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700031		
MONDO:0700030	biolink:Disease	complete trisomy 21	Trisomy 21 characterized by the presence of an extra chromosome 21 in all the cells of the organism.		mondo.json	standard trisomy 21	http://purl.obolibrary.org/obo/MONDO_0700030		
HGNC:3625	biolink:NamedThing	FCN3			mondo.json		http://identifiers.org/hgnc/3625		
HP:0001114	biolink:PhenotypicFeature	Xanthelasma	The presence of xanthomata in the skin of the eyelid.	SNOMEDCT_US:6400008|MSH:D014973|UMLS:C4280602|UMLS:C0302314|UMLS:C4280601|SNOMEDCT_US:75594004|UMLS:C0155210|SNOMEDCT_US:63103006	mondo.json	Xanthelasma of eyelid|Xanthoma|Fatty deposits on eyelids|Xanthelasma of periocular region|Fatty deposits in skin around the eyes|Xanthoma of eyelid|Xanthoma of periocular region|Xanthelasma palpebrarum	http://purl.obolibrary.org/obo/HP_0001114		
UBERON:0005406	biolink:AnatomicalEntity	perirenal fat			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005406		
MONDO:0700037	biolink:Disease	testicular fibrothecoma	A rare testicular sex cord-stromal neoplasm characterized by mixed features of both fibroma and thecoma.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700037		
MONDO:0700036	biolink:Disease	fibrothecoma	A sex cord-stromal tumor characterized by mixed features of both fibroma and thecoma.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700036		
MONDO:0700039	biolink:Disease	bladder exstrophy-epispadias-cloacal extrophy complex	An anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia.	UMLS:C1838703|OMIM:600057	mondo.json	BEEC	http://purl.obolibrary.org/obo/MONDO_0700039	UMLS:C1838703|https://omim.org/entry/600057	
MONDO:0700038	biolink:Disease	TDP-43 proteinopathy	Disease characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease.	MESH:D057177|UMLS:C2718017	mondo.json		http://purl.obolibrary.org/obo/MONDO_0700038	UMLS:C2718017|http://identifiers.org/mesh/D057177	
HGNC:3631	biolink:NamedThing	FDPS			mondo.json		http://identifiers.org/hgnc/3631		
MONDO:0700033	biolink:Disease	complete trisomy 13	Trisomy 13 in which the presence of an extra copy of chromosome 13 is present in all the cells of the organism.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700033		
MONDO:0700032	biolink:Disease	complete trisomy 18	Trisomy 18 in which the presence of an extra copy of chromosome 18 is present in all the cells of the organism.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0700032		
UBERON:0005401	biolink:AnatomicalEntity	cerebral hemisphere gray matter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005401		
MONDO:0700035	biolink:Disease	monosomy chromosome 8	A chromosomal disorder consisting of the absence of one chromosome 8.	MESH:C537823|NCIT:C36535	mondo.json	chromosome 8 deletion|loss of chromosome 8	http://purl.obolibrary.org/obo/MONDO_0700035	http://identifiers.org/mesh/C537823	
UBERON:0005400	biolink:AnatomicalEntity	telencephalon arachnoid mater			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005400		
MONDO:0700034	biolink:Disease	mosaic trisomy 13	Trisomy 13 in which the presence of an extra copy of chromosome 13 is present only in some of the cells of the organism.		mondo.json	trisomy 13 mosaicism	http://purl.obolibrary.org/obo/MONDO_0700034		
MONDO:0021494	biolink:Disease	benign neoplasm of parotid gland	A benign neoplasm that involves the parotid gland.	NCIT:C4770|SCTID:92279000|ICD10CM:D11.0|UMLS:C0496857	mondo.json	benign tumor of the parotid|benign parotid tumor|benign tumor of parotid|benign parotid neoplasm|benign parotid gland neoplasm|parotid gland benign neoplasm|benign neoplasm of the parotid gland|benign neoplasm of the parotid|benign parotid gland tumor|benign tumor of the parotid gland|benign tumor of parotid gland|benign neoplasm of parotid	http://purl.obolibrary.org/obo/MONDO_0021494	http://purl.bioontology.org/ontology/ICD10CM/D11.0|http://identifiers.org/snomedct/92279000|NCIT:C4770|UMLS:C0496857	
MONDO:0021495	biolink:Disease	benign neoplasm of sublingual gland	A benign neoplasm that involves the sublingual gland.	SCTID:92413008|UMLS:C0347208|NCIT:C4601	mondo.json	sublingual gland benign neoplasm|benign tumor of sublingual gland|benign tumor of the sublingual gland|benign neoplasm of the sublingual gland|benign sublingual gland tumor|benign sublingual gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0021495	http://identifiers.org/snomedct/92413008|UMLS:C0347208|NCIT:C4601	
MONDO:0021496	biolink:Disease	benign neoplasm of lip	A benign neoplasm that involves the lip.	SCTID:92185002|NCIT:C3591|ICD9:210.0|UMLS:C0153932|ICD10CM:D10.0	mondo.json	benign Lip neoplasm|lip neoplasm, benign|lip benign neoplasm|benign neoplasm of the Lip|benign tumor of the Lip|benign Lip tumor|benign tumor of Lip	http://purl.obolibrary.org/obo/MONDO_0021496	http://identifiers.org/snomedct/92185002|http://purl.bioontology.org/ontology/ICD10CM/D10.0|NCIT:C3591|UMLS:C0153932	
GO:0016192	biolink:NamedThing	vesicle-mediated transport	A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane.		mondo.json	vesicle transport|vesicular transport|protein sorting along secretory pathway|vesicle trafficking|nonselective vesicle transport	http://purl.obolibrary.org/obo/GO_0016192		
MONDO:0021497	biolink:Disease	benign neoplasm of cerebrum	A benign neoplasm that involves the telencephalon.	NCIT:C8548|SCTID:275269004|UMLS:C0686378	mondo.json	benign cerebral neoplasm|benign tumor of cerebral hemispheres|benign cerebral tumor|benign tumor of cerebrum|benign tumor of the cerebral hemispheres|benign tumor of the cerebrum|benign neoplasm of cerebral hemispheres|benign neoplasm of the cerebrum|benign neoplasm of the cerebral hemispheres|telencephalon benign neoplasm|benign cerebral hemispheric neoplasm|benign cerebral hemispheric tumor	http://purl.obolibrary.org/obo/MONDO_0021497	UMLS:C0686378|NCIT:C8548|http://identifiers.org/snomedct/275269004	
MONDO:0021498	biolink:Disease	benign neoplasm of placenta	A benign neoplasm that involves the placenta.	NCIT:C8545|ICD9:219.8|SCTID:92297008|UMLS:C0686274	mondo.json	benign placenta neoplasm|benign tumor of placenta|benign tumor of the placenta|placenta benign neoplasm|benign placenta tumor|benign neoplasm of the placenta|placental neoplasms, benign|benign placental tumor|benign placental neoplasm	http://purl.obolibrary.org/obo/MONDO_0021498	UMLS:C0686274|NCIT:C8545|http://identifiers.org/snomedct/92297008	
MONDO:0021499	biolink:Disease	benign neoplasm of cerebellum	A benign neoplasm that involves the cerebellum.	SCTID:92050000|NCIT:C4955	mondo.json	benign cerebellar neoplasms|cerebellar neoplasms, benign|benign tumor of cerebellum|benign tumor of the cerebellum|benign neoplasm of the cerebellum|benign cerebellar neoplasm|benign cerebellar tumor|cerebellum benign neoplasm|neoplasms, cerebellar, benign|neoplasms, benign, cerebellar	http://purl.obolibrary.org/obo/MONDO_0021499	http://identifiers.org/snomedct/92050000|NCIT:C4955	
PATO:0001579	biolink:NamedThing	contractility	A physical quality that is the ability to contract or shrink.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001579		
PATO:0001576	biolink:NamedThing	increased pressure	A pressure which is relatively high.		mondo.json	high pressure	http://purl.obolibrary.org/obo/PATO_0001576		
MONDO:0021490	biolink:Disease	benign neoplasm of sebaceous gland	A benign neoplasm that involves the sebaceous gland.	SCTID:92337009|UMLS:C0684358|NCIT:C8525	mondo.json	benign sebaceous neoplasm|benign sebaceous gland neoplasm|benign neoplasm of the sebaceous gland|benign tumor of the sebaceous gland|benign sebaceous gland tumor|benign tumor of sebaceous gland|benign sebaceous tumor|benign sebaceous skin tumor|sebaceous gland benign neoplasm|benign sebaceous skin neoplasm	http://purl.obolibrary.org/obo/MONDO_0021490	NCIT:C8525|UMLS:C0684358|http://identifiers.org/snomedct/92337009	
MONDO:0021491	biolink:Disease	benign neoplasm of gum	A benign neoplasm that involves the gingiva.	SCTID:92126004|UMLS:C0347201|NCIT:C4598|ICD9:210.4	mondo.json	gingiva benign neoplasm|benign neoplasm of the gum|benign tumor of the gum|benign gum tumor|benign gum neoplasm|benign tumor of gum|benign neoplasm of the gingiva|benign neoplasm of gingiva|benign gingival tumor|benign tumor of the gingiva|benign tumor of gingiva|benign gingival neoplasm	http://purl.obolibrary.org/obo/MONDO_0021491	UMLS:C0347201|NCIT:C4598|http://identifiers.org/snomedct/92126004	
MONDO:0021492	biolink:Disease	benign neoplasm of major salivary gland	A benign neoplasm that involves the major salivary gland.	NCIT:C4771|ICD9:210.2|SCTID:92205005|UMLS:C0496858	mondo.json	benign tumor of Major salivary gland|benign tumor of the Major salivary gland|benign neoplasm of the Major salivary gland|major salivary gland benign neoplasm|benign Major salivary gland tumor|benign Major salivary gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0021492	NCIT:C4771|UMLS:C0496858|http://identifiers.org/snomedct/92205005	
MONDO:0021493	biolink:Disease	benign neoplasm of minor salivary gland	A benign neoplasm that involves the minor salivary gland.	SCTID:92220004|ICD9:210.4|UMLS:C0345615|NCIT:C4411	mondo.json	minor salivary gland benign neoplasm|benign tumor of minor salivary gland|benign tumor of the minor salivary gland|benign neoplasm of the minor salivary gland|benign minor salivary gland tumor|benign minor salivary gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0021493	http://identifiers.org/snomedct/92220004|NCIT:C4411|UMLS:C0345615	
MONDO:0033483	biolink:Disease	erythrocytosis, familial, 5	Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene.	DOID:0080290|OMIM:617907|UMLS:CN873435	mondo.json	ECYT5|EPO familial polycythemia|erythrocytosis, familial, 5|familial erythrocytosis 5|familial polycythemia caused by mutation in EPO	http://purl.obolibrary.org/obo/MONDO_0033483	UMLS:CN873435|https://omim.org/entry/617907|DOID:0080290	
MONDO:0033482	biolink:Disease	spinocerebellar ataxia 47		UMLS:CN244564|OMIM:617931|DOID:0111743	mondo.json	SCA47|spinocerebellar ataxia 47	http://purl.obolibrary.org/obo/MONDO_0033482	DOID:0111743|https://omim.org/entry/617931|UMLS:CN244564	
MONDO:0033481	biolink:Disease	spinocerebellar ataxia 46		UMLS:CN623018|DOID:0080288|Orphanet:589522|OMIM:617770	mondo.json	spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy|spinocerebellar ataxia 46|SCA46	http://purl.obolibrary.org/obo/MONDO_0033481	https://omim.org/entry/617770|Orphanet:589522|UMLS:CN623018|DOID:0080288	ordo_disease
MONDO:0033480	biolink:Disease	spinocerebellar ataxia 45		UMLS:CN623017|DOID:0080287|OMIM:617769|Orphanet:589527	mondo.json	SCA45|spinocerebellar ataxia 45	http://purl.obolibrary.org/obo/MONDO_0033480	https://omim.org/entry/617769|Orphanet:589527|UMLS:CN623017|DOID:0080287	ordo_disease
PATO:0001575	biolink:NamedThing	decreased pressure	A pressure which is relatively low.		mondo.json	low pressure	http://purl.obolibrary.org/obo/PATO_0001575		
MONDO:0033486	biolink:Disease	leukodystrophy, hypomyelinating, 14		OMIM:617899|DOID:0080296|UMLS:CN845004	mondo.json	HLD14|leukodystrophy, hypomyelinating, 14|hypomyelinating leukodystrophy 14	http://purl.obolibrary.org/obo/MONDO_0033486	UMLS:CN845004|DOID:0080296|https://omim.org/entry/617899	
MONDO:0033485	biolink:Disease	short-rib thoracic dysplasia 19 with or without polydactyly		UMLS:CN842245|DOID:0080295|OMIM:617895	mondo.json	short-rib thoracic dysplasia 19 with or without polydactyly|SRTD19	http://purl.obolibrary.org/obo/MONDO_0033485	DOID:0080295|https://omim.org/entry/617895|UMLS:CN842245	
MONDO:0021483	biolink:Disease	benign neoplasm of frontal sinus	A benign neoplasm that involves the frontal sinus.	NCIT:C4420|ICD9:212.0|SCTID:92115005|UMLS:C0345674	mondo.json	benign frontal sinus neoplasm|frontal sinus benign neoplasm|benign neoplasm of the frontal sinus|benign frontal sinus tumor|benign tumor of the frontal sinus|benign tumor of frontal sinus	http://purl.obolibrary.org/obo/MONDO_0021483	UMLS:C0345674|NCIT:C4420|http://identifiers.org/snomedct/92115005	
MONDO:0021484	biolink:Disease	benign neoplasm of maxillary sinus	A benign neoplasm that involves the maxillary sinus.	SCTID:92211008|ICD9:212.0|UMLS:C0345666|NCIT:C4414	mondo.json	benign maxillary sinus tumor|benign tumor of maxillary antrum|benign tumor of the maxillary sinus|benign tumor of the maxillary antrum|benign maxillary antrum neoplasm|benign tumor of maxillary sinus|benign neoplasm of maxillary antrum|benign maxillary antrum tumor|benign neoplasm of the maxillary antrum|maxillary sinus benign neoplasm|benign maxillary sinus neoplasm|benign maxillofacial sinus neoplasm|benign neoplasm of the maxillofacial sinus|benign neoplasm of maxillofacial sinus|benign maxillofacial sinus tumor|benign tumor of the maxillofacial sinus|benign neoplasm of the maxillary sinus|benign tumor of maxillofacial sinus	http://purl.obolibrary.org/obo/MONDO_0021484	UMLS:C0345666|NCIT:C4414|http://identifiers.org/snomedct/92211008	
MONDO:0021485	biolink:Disease	benign neoplasm of iris	A benign neoplasm that involves the iris.	NCIT:C4555|UMLS:C0346374|ICD9:224.0|SCTID:189151003	mondo.json	benign neoplasm of the iris|benign iris tumor|benign iris neoplasm|iris benign neoplasm|benign tumor of iris|benign tumor of the iris	http://purl.obolibrary.org/obo/MONDO_0021485	http://identifiers.org/snomedct/189151003|NCIT:C4555|UMLS:C0346374	
MONDO:0021486	biolink:Disease	benign neoplasm of ciliary body	A benign neoplasm that involves the ciliary body.	ICD9:224.0|SCTID:92060009|NCIT:C4779|UMLS:C0496894	mondo.json	ciliary body benign neoplasm|benign ciliary body neoplasm|benign tumor of ciliary body|benign tumor of the ciliary body|benign neoplasm of the ciliary body|benign ciliary body tumor	http://purl.obolibrary.org/obo/MONDO_0021486	UMLS:C0496894|http://identifiers.org/snomedct/92060009|NCIT:C4779	
MONDO:0021487	biolink:Disease	benign neoplasm of choroid	A benign neoplasm that involves the optic choroid.	ICD9:224.6|SCTID:92059004|UMLS:C0154028|NCIT:C3625	mondo.json	optic choroid benign neoplasm|benign choroid neoplasm|benign neoplasm of the choroid|benign choroid tumor|benign tumor of the choroid|benign tumor of choroid	http://purl.obolibrary.org/obo/MONDO_0021487	NCIT:C3625|http://identifiers.org/snomedct/92059004|UMLS:C0154028	
MONDO:0021488	biolink:Disease	benign neoplasm of lacrimal gland	A benign neoplasm that involves the lacrimal gland.	NCIT:C3621|SCTID:92169007|ICD9:224.2|UMLS:C0154024	mondo.json	benign lacrimal gland tumor|benign neoplasm of the lacrimal gland|benign lacrimal gland neoplasm|lacrimal gland benign neoplasm|benign tumor of lacrimal gland|benign tumor of the lacrimal gland	http://purl.obolibrary.org/obo/MONDO_0021488	NCIT:C3621|http://identifiers.org/snomedct/92169007|UMLS:C0154024	
MONDO:0021489	biolink:Disease	benign neoplasm of sweat gland	A benign neoplasm that involves the sweat gland.	SCTID:92422009|UMLS:C0684354|NCIT:C4879	mondo.json	benign sweat gland neoplasm|benign neoplasm of the sweat gland|benign tumor of the sweat gland|sweat gland neoplasm, benign|benign sweat gland tumor|sweat gland benign neoplasm|benign tumor of sweat gland	http://purl.obolibrary.org/obo/MONDO_0021489	NCIT:C4879|UMLS:C0684354|http://identifiers.org/snomedct/92422009	
MONDO:0021480	biolink:Disease	benign neoplasm of soft palate	A benign neoplasm that involves the soft palate.	ICD9:210.4|UMLS:C0345557|NCIT:C4404|SCTID:92386006	mondo.json	benign soft palate neoplasm|benign neoplasm of the soft palate|benign tumor of the soft palate|benign soft palate tumor|benign tumor of soft palate|soft palate benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021480	http://identifiers.org/snomedct/92386006|NCIT:C4404|UMLS:C0345557	
MONDO:0021481	biolink:Disease	benign neoplasm of submandibular gland	A benign neoplasm that involves the submandibular gland.	UMLS:C0685988|NCIT:C4891|SCTID:92415001	mondo.json	submandibular gland benign neoplasm|benign submandibular gland neoplasm|benign neoplasm of the submandibular gland|benign tumor of the submandibular gland|benign submandibular gland tumor|benign tumor of submandibular gland	http://purl.obolibrary.org/obo/MONDO_0021481	http://identifiers.org/snomedct/92415001|UMLS:C0685988|NCIT:C4891	
MONDO:0021482	biolink:Disease	benign neoplasm of middle ear	A benign neoplasm that involves the middle ear.	UMLS:C0347213|ICD9:212.0|NCIT:C4602|SCTID:92218002	mondo.json	middle ear benign neoplasm|benign tumor of middle Ear|benign tumor of the middle Ear|benign middle Ear tumor|benign neoplasm of the middle Ear|benign middle Ear neoplasm	http://purl.obolibrary.org/obo/MONDO_0021482	UMLS:C0347213|NCIT:C4602|http://identifiers.org/snomedct/92218002	
PATO:0001581	biolink:NamedThing	decreased contractility	A contractility which is relatively low.		mondo.json	low contractility	http://purl.obolibrary.org/obo/PATO_0001581		
MONDO:0033493	biolink:Disease	fibromatosis, gingival, 5		OMIM:617626|DOID:0080280	mondo.json	GGF5|GINGF5|gingival fibromatosis 5|fibromatosis, gingival, 5|fibromatosis, gingival, hereditary, 5	http://purl.obolibrary.org/obo/MONDO_0033493	https://omim.org/entry/617626|DOID:0080280	
MONDO:0033492	biolink:Disease	Coffin-Siris syndrome 6	Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID2 gene.	DOID:0080297|Orphanet:1465|OMIM:617808|UMLS:CN696018	mondo.json	COFFIN-SIRIS syndrome 6|Coffin-Siris syndrome 6|ARID2-related BAFopathy|CSS6	http://purl.obolibrary.org/obo/MONDO_0033492	https://omim.org/entry/617808|UMLS:CN696018|DOID:0080297	
PATO:0001580	biolink:NamedThing	increased contractility	A contractility which is relatively high.		mondo.json	high contractility	http://purl.obolibrary.org/obo/PATO_0001580		
MONDO:0021472	biolink:Disease	benign neoplasm of scrotum	A benign neoplasm that involves the scrotum.	ICD10CM:D29.4|UMLS:C0154011|ICD9:222.4|NCIT:C3615|SCTID:92336000	mondo.json	benign tumor of the scrotum|scrotum benign neoplasm|benign tumor of scrotum|benign scrotal neoplasm|benign scrotal tumor|benign neoplasm of the scrotum	http://purl.obolibrary.org/obo/MONDO_0021472	NCIT:C3615|http://identifiers.org/snomedct/92336000|UMLS:C0154011|http://purl.bioontology.org/ontology/ICD10CM/D29.4	
MONDO:0021473	biolink:Disease	benign neoplasm of epididymis	A benign neoplasm that involves the epididymis.	UMLS:C0154010|SCTID:92088003|ICD9:222.3|NCIT:C3614	mondo.json	epididymis benign neoplasm|benign epididymal neoplasm|benign tumor of epididymis|benign tumor of the epididymis|benign epididymal tumor|benign neoplasm of the epididymis	http://purl.obolibrary.org/obo/MONDO_0021473	NCIT:C3614|http://identifiers.org/snomedct/92088003|UMLS:C0154010	
MONDO:0021474	biolink:Disease	benign neoplasm of ear	A benign neoplasm that involves the ear.	NCIT:C8417|UMLS:C0347354|SCTID:255181009	mondo.json	aural neoplasms, benign|benign Ear neoplasm|benign neoplasm of the Ear|benign tumor of the Ear|benign Ear tumor|benign tumor of Ear|ear benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021474	NCIT:C8417|http://identifiers.org/snomedct/255181009|UMLS:C0347354	
MONDO:0021475	biolink:Disease	benign neoplasm of nasal cavity	A benign neoplasm that involves the nasal cavity.	SCTID:92241005|UMLS:C0347215|ICD9:212.0|NCIT:C4603	mondo.json	benign nasal cavity neoplasm|nasal cavity benign neoplasm|benign tumor of nasal cavity|benign tumor of the nasal cavity|benign neoplasm of the nasal cavity|benign nasal cavity tumor	http://purl.obolibrary.org/obo/MONDO_0021475	NCIT:C4603|http://identifiers.org/snomedct/92241005|UMLS:C0347215	
MONDO:0021476	biolink:Disease	benign neoplasm of tongue	A benign neoplasm that involves the tongue.	SCTID:92443005|NCIT:C3592|ICD9:210.1|ICD10CM:D10.1|UMLS:C0153933	mondo.json	benign tongue neoplasm|benign tumor of tongue|benign tumor of the tongue|benign neoplasm of the tongue|benign tongue tumor|tongue neoplasm, benign|tongue benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021476	UMLS:C0153933|NCIT:C3592|http://identifiers.org/snomedct/92443005|http://purl.bioontology.org/ontology/ICD10CM/D10.1	
MONDO:0021477	biolink:Disease	benign neoplasm of sphenoidal sinus	A non-metastasizing neoplasm that arises from the sphenoid sinus.	NCIT:C4422|ICD9:212.0|SCTID:92404006|UMLS:C0345678	mondo.json	benign tumor of sphenoid sinus|benign tumor of the sphenoid sinus|benign neoplasm of sphenoid sinus|benign neoplasm of the sphenoid sinus|benign sphenoid sinus tumor|benign sphenoidal sinus neoplasm|benign tumor of sphenoidal sinus|sphenoidal sinus benign neoplasm|benign tumor of the sphenoidal sinus|benign neoplasm of the sphenoidal sinus|benign sphenoidal sinus tumor|benign sphenoid sinus neoplasm	http://purl.obolibrary.org/obo/MONDO_0021477	NCIT:C4422|http://identifiers.org/snomedct/92404006|UMLS:C0345678	
MONDO:0021478	biolink:Disease	benign neoplasm of nasopharynx	A benign neoplasm that involves the nasopharynx.	ICD9:210.7|NCIT:C3595|ICD10CM:D10.6|SCTID:188800003|UMLS:C0153938	mondo.json	nasopharyngeal neoplasm, benign|benign nasopharyngeal neoplasm|nasopharynx benign neoplasm|benign neoplasm of the nasopharynx|benign nasopharyngeal tumor|benign tumor of the nasopharynx|benign tumor of nasopharynx	http://purl.obolibrary.org/obo/MONDO_0021478	UMLS:C0153938|NCIT:C3595|http://identifiers.org/snomedct/188800003|http://purl.bioontology.org/ontology/ICD10CM/D10.6	
MONDO:0021479	biolink:Disease	benign neoplasm of oropharynx	A benign neoplasm that involves the oropharynx.	UMLS:C0347229|ICD9:210.6|SCTID:92259008|NCIT:C4604	mondo.json	oropharynx benign neoplasm|oropharyngeal neoplasm benign|benign oropharyngeal neoplasm|benign tumor of oropharynx|benign tumor of the oropharynx|benign neoplasm of the oropharynx|benign oropharyngeal tumor	http://purl.obolibrary.org/obo/MONDO_0021479	UMLS:C0347229|NCIT:C4604|http://identifiers.org/snomedct/92259008	
MONDO:0008499	biolink:Disease	short stature-wormian bones-dextrocardia syndrome	Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia.	UMLS:C1861448|Orphanet:2863|SCTID:763631006|OMIM:185120|GARD:0004856|MESH:C566105	mondo.json	Stratton-Parker syndrome|short stature wormian bones dextrocardia|Growth hormone deficiency with Wormian bones, Cardiac anomaly, and Brachycamptodactyly|STRATTON-PARKER syndrome|Stratton Parker syndrome	http://purl.obolibrary.org/obo/MONDO_0008499	https://omim.org/entry/185120|http://identifiers.org/snomedct/763631006|http://identifiers.org/mesh/C566105|UMLS:C1861448|Orphanet:2863	ordo_malformation_syndrome
MONDO:0008498	biolink:Disease	strabismus, susceptibility to		UMLS:C1861449|OMIM:185100	mondo.json	strabismus, susceptibility to|strabismus, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0008498	https://omim.org/entry/185100|UMLS:C1861449	predisposition
MONDO:0008497	biolink:Disease	Stormorken syndrome	Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.	UMLS:C1861451|GARD:0005188|MESH:C566108|ICD9:759.89|Orphanet:3204|SCTID:711407000|OMIM:185070|DOID:0060354	mondo.json	Thrombocytopathy-asplenia-miosis syndrome|Stormorken-Sjaastad-Langslet syndrome|york Platelet syndrome|Thrombocytopathy asplenia miosis|STRMK|thrombocytopathy, asplenia and miosis|Stormorken syndrome|Thrombocytopathy, asplenia, and miosis	http://purl.obolibrary.org/obo/MONDO_0008497	https://omim.org/entry/185070|DOID:0060354|Orphanet:3204|http://identifiers.org/snomedct/711407000|http://identifiers.org/mesh/C566108|UMLS:C1861451	ordo_disease
MONDO:0008496	biolink:Disease	storm syndrome		GARD:0005035|OMIM:185069|MESH:C566109|UMLS:C1861452	mondo.json	storm syndrome|pleiotropic, autosomal dominant disorder affecting connective tissue	http://purl.obolibrary.org/obo/MONDO_0008496	https://omim.org/entry/185069|http://identifiers.org/mesh/C566109|UMLS:C1861452	gard_rare
MONDO:0021470	biolink:Disease	benign neoplasm of pancreas	A benign neoplasm that involves the pancreas.	ICD10CM:D13.6|UMLS:C0347284|NCIT:C4612|SCTID:92264007	mondo.json	pancreatic tumor, benign|pancreas benign neoplasm|pancreatic neoplasm, benign|benign tumor of pancreas|benign tumor of the pancreas|benign pancreatic neoplasm|benign pancreas tumor|pancreas neoplasm, benign|benign neoplasm of the pancreas|pancreas tumor, benign|benign pancreas neoplasm|benign pancreatic tumor	http://purl.obolibrary.org/obo/MONDO_0021470	http://identifiers.org/snomedct/92264007|http://purl.bioontology.org/ontology/ICD10CM/D13.6|UMLS:C0347284|NCIT:C4612	
MONDO:0021471	biolink:Disease	benign neoplasm of endometrium	A benign neoplasm that involves the endometrium.	SCTID:92086004|NCIT:C4894|UMLS:C0686239	mondo.json	benign tumor of the endometrium|benign endometrium neoplasm|benign endometrium tumor|benign tumor of endometrium|benign endometrial neoplasm|endometrium benign neoplasm|benign endometrial tumor|benign neoplasm of the endometrium	http://purl.obolibrary.org/obo/MONDO_0021471	UMLS:C0686239|http://identifiers.org/snomedct/92086004|NCIT:C4894	
MONDO:0008495	biolink:Disease	platelet storage pool deficiency	Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic.	OMIM:185050|MESH:D010981|GARD:0005034|DOID:2223|EFO:1001112|Orphanet:734|SCTID:234474009	mondo.json	platelet dense granule deficiency|combined alpha-delta platelet storage pool deficiency|dense body defect|platelet storage pool diseases|storage pool platelet disease|alpha delta granule deficiency|alpha dense granule deficiency|platelet storage pool defect	http://purl.obolibrary.org/obo/MONDO_0008495	https://omim.org/entry/185050|http://identifiers.org/mesh/D010981|Orphanet:734|http://identifiers.org/snomedct/234474009|DOID:2223	gard_rare|ordo_disease
MONDO:0008494	biolink:Disease	cryohydrocytosis	A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.	Orphanet:398088|UMLS:C1861453|MESH:C535827|GARD:0010184|OMIM:185020	mondo.json	cryohydrocytosis|stomatocytosis, cold-sensitive|pseudohyperkalemia Cardiff|CHC|hereditary cryohydrocytosis with normal stomatin	http://purl.obolibrary.org/obo/MONDO_0008494	https://omim.org/entry/185020|http://identifiers.org/mesh/C535827|UMLS:C1861453|Orphanet:398088	ordo_disease
PATO:0001592	biolink:NamedThing	increased curvature	A curvature which is relatively high.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001592		
MONDO:0008493	biolink:Disease	overhydrated hereditary stomatocytosis	Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.	UMLS:C1861455|DOID:0111562|Orphanet:3203|SCTID:722125003|OMIM:185000|GARD:0004183|MESH:C566111	mondo.json	stomatocytosis I|OHST|OHS|stomatocytosis 1|Potassium sodium disorder of erythrocyte|Potassium-sodium disorder of erythrocyte|OVERHYDRATED hereditary stomatocytosis|overhydrated hereditary stomatocytosis	http://purl.obolibrary.org/obo/MONDO_0008493	Orphanet:3203|http://identifiers.org/snomedct/722125003|http://identifiers.org/mesh/C566111|UMLS:C1861455|DOID:0111562|https://omim.org/entry/185000	ordo_disease
PATO:0001593	biolink:NamedThing	decreased curvature	A curvature which is relatively low.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001593		
MONDO:0008492	biolink:Disease	stiff skin syndrome	A rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy.	GARD:0005025|SCTID:765187004|UMLS:C1861456|DOID:0111561|NCIT:C118636|OMIM:184900|Orphanet:2833|MESH:C566112	mondo.json	STIFF skin syndrome|stiff skin syndrome|SSKS	http://purl.obolibrary.org/obo/MONDO_0008492	https://omim.org/entry/184900|http://identifiers.org/snomedct/765187004|NCIT:C118636|http://identifiers.org/mesh/C566112|UMLS:C1861456|Orphanet:2833|DOID:0111561	gard_rare|ordo_disease
MONDO:0008491	biolink:Disease	stiff-person syndrome	Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis.	ICD9:333.91|EFO:0007498|GARD:0005023|MESH:D016750|DOID:13366|OMIM:184850|SCTID:5217008|MedDRA:10042044|UMLS:C0085292|Orphanet:3198|NCIT:C85170	mondo.json	STIFF-PERSON syndrome|Stiff person syndrome and related disorders|stiff-person syndrome|stiff man syndrome|Stiff Person syndrome|Stiff man syndrome|Stiff-trunk syndrome|SPS|progressive encephalomyelitis with rigidity|Stiff-man syndrome|SMS|Morsch Woltman syndrome|Moersch-Woltman syndrome|Stiff-Man syndrome	http://purl.obolibrary.org/obo/MONDO_0008491	Orphanet:3198|http://identifiers.org/snomedct/5217008|https://omim.org/entry/184850|http://identifiers.org/mesh/D016750|UMLS:C0085292|DOID:13366|NCIT:C85170	ordo_disease
PATO:0001591	biolink:NamedThing	curvature	A surface shape quality inhering in a bearer by virtue of the bearer's exhibiting a degree of bending.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001591		
MONDO:0008490	biolink:Disease	otospondylomegaepiphyseal dysplasia, autosomal dominant	A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.	OMIM:184840|GARD:0004351|GARD:0005021|MESH:C537494|OMIM:277610|SCTID:699313003|MESH:C535776|DOID:4258|Orphanet:166100|Orphanet:3450|SCTID:4602007	mondo.json	Stickler syndrome nonocular type|Weissenbacher-Zweymuller syndrome|heterozygous otospondylomegaepiphyseal dysplasia|Pierre Robin syndrome with fetal chondrodysplasia|COL11A2 Stickler syndrome|Stickler syndrome, type III, formerly|Pierre Robin malformation|Piere-Robin syndrome|OSMEDA|WZS|Stickler syndrome, non-ocular type|Weissenbacher- Zweymuller syndrome|Stickler syndrome caused by mutation in COL11A2|Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly|Stickler syndrome, type 3|OSMED, heterozygous|Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type|STL3|otospondylomegaepiphyseal dysplasia, autosomal dominant|Pierre Robin sequence-fetal chondrodysplasia syndrome|Pierre Robin syndrome-fetal chondrodysplasia syndrome|Weissenbacher-Zweymüller syndrome|STICKLER syndrome, type III|Stickler syndrome, Nonocular type|heterozygous OSMED	http://purl.obolibrary.org/obo/MONDO_0008490	https://omim.org/entry/184840|Orphanet:166100|Orphanet:3450|http://identifiers.org/mesh/C537494|DOID:4258|http://identifiers.org/mesh/C535776|https://omim.org/entry/277610|http://identifiers.org/snomedct/699313003	gard_rare|ordo_malformation_syndrome
MONDO:0021469	biolink:Disease	benign neoplasm of anus	A benign neoplasm that involves the anus.	SCTID:91978004|NCIT:C4611|UMLS:C0347276	mondo.json	benign anal tumor|anus benign neoplasm|benign tumor of anus|benign tumor of the anus|benign neoplasm of the anus|benign anal neoplasm	http://purl.obolibrary.org/obo/MONDO_0021469	UMLS:C0347276|NCIT:C4611|http://identifiers.org/snomedct/91978004	
MONDO:0021461	biolink:Disease	benign neoplasm of hypopharynx	A benign neoplasm that involves the hypopharynx.	SCTID:92139000|ICD9:210.8|NCIT:C3596|ICD10CM:D10.7|UMLS:C0153939	mondo.json	benign tumor of hypopharynx|hypopharyngeal neoplasm, benign|hypopharynx benign neoplasm|benign hypopharyngeal neoplasm|benign hypopharyngeal tumor|benign neoplasm of the hypopharynx|benign tumor of the hypopharynx	http://purl.obolibrary.org/obo/MONDO_0021461	UMLS:C0153939|NCIT:C3596|http://identifiers.org/snomedct/92139000|http://purl.bioontology.org/ontology/ICD10CM/D10.7	
MONDO:0021462	biolink:Disease	benign neoplasm of rectum	A benign neoplasm that involves the rectum.	SCTID:92318000|NCIT:C4774|ICD10CM:D12.8|UMLS:C0496867	mondo.json	rectal tumors, benign|benign rectal neoplasm|benign rectal tumors|benign rectal tumor|benign tumor of rectum|rectum benign neoplasm|benign tumor of the rectum|benign rectal neoplasms|benign neoplasm of the rectum|rectal neoplasms, benign	http://purl.obolibrary.org/obo/MONDO_0021462	NCIT:C4774|UMLS:C0496867|http://identifiers.org/snomedct/92318000|http://purl.bioontology.org/ontology/ICD10CM/D12.8	
MONDO:0021463	biolink:Disease	benign neoplasm of parathyroid gland	A benign neoplasm that involves the parathyroid gland.	UMLS:C0154041|DOID:60008|NCIT:C3630|ICD9:227.1|ICD10CM:D35.1|SCTID:92272009	mondo.json	parathyroid gland benign neoplasm|parathyroid tumor benign|benign neoplasm of the parathyroid gland|benign parathyroid neoplasm|benign parathyroid gland neoplasm|benign neoplasm of the parathyroid|benign parathyroid gland tumor|benign tumor of the parathyroid gland|benign tumor of parathyroid gland|benign neoplasm of parathyroid|benign parathyroid tumor|benign tumor of the parathyroid|benign tumor of parathyroid	http://purl.obolibrary.org/obo/MONDO_0021463	NCIT:C3630|DOID:60008|http://purl.bioontology.org/ontology/ICD10CM/D35.1|http://identifiers.org/snomedct/92272009|UMLS:C0154041	
MONDO:0021464	biolink:Disease	benign neoplasm of cecum	A benign neoplasm that involves the caecum.	UMLS:C0496859|SCTID:92040001|NCIT:C4772|ICD10CM:D12.0	mondo.json	benign cecum tumor|benign tumor of the cecum|benign tumor of cecum|benign cecum neoplasm|caecum benign neoplasm|benign neoplasm of the cecum	http://purl.obolibrary.org/obo/MONDO_0021464	NCIT:C4772|UMLS:C0496859|http://identifiers.org/snomedct/92040001|http://purl.bioontology.org/ontology/ICD10CM/D12.0	
MONDO:0021465	biolink:Disease	benign neoplasm of appendix	A benign neoplasm that involves the vermiform appendix.	SCTID:91981009|NCIT:C4773|ICD10CM:D12.1|UMLS:C0496860	mondo.json	benign tumor of appendix|benign tumor of the appendix|benign appendix tumor|benign neoplasm of the appendix|benign appendix neoplasm|vermiform appendix benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021465	NCIT:C4773|UMLS:C0496860|http://purl.bioontology.org/ontology/ICD10CM/D12.1|http://identifiers.org/snomedct/91981009	
MONDO:0021466	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0021466		
MONDO:0021467	biolink:Disease	benign neoplasm of renal pelvis	A benign neoplasm that involves the renal pelvis.	EFO:1000118|UMLS:C0154015|ICD9:223.1|NCIT:C3616|SCTID:92319008	mondo.json	renal pelvis benign neoplasm|benign kidney pelvis neoplasm|benign tumor of renal pelvis|benign tumor of the renal pelvis|benign neoplasm of the renal pelvis|benign renal pelvis tumor|benign renal pelvis neoplasm	http://purl.obolibrary.org/obo/MONDO_0021467	NCIT:C3616|http://identifiers.org/snomedct/92319008|UMLS:C0154015	
MONDO:0021468	biolink:Disease	benign neoplasm of adrenal medulla	A benign neoplasm that involves the adrenal medulla.	SCTID:91968002|NCIT:C4895|UMLS:C0686512	mondo.json	benign neoplasm of the adrenal medulla|benign tumor of the adrenal medulla|benign adrenal medulla tumor|benign tumor of adrenal medulla|adrenal medulla benign neoplasm|benign adrenal medulla neoplasm	http://purl.obolibrary.org/obo/MONDO_0021468	NCIT:C4895|http://identifiers.org/snomedct/91968002|UMLS:C0686512	
GO:0100002	biolink:NamedThing	negative regulation of protein kinase activity by protein phosphorylation	Any protein phosphorylation process that negatively regulates protein kinase activity.		mondo.json		http://purl.obolibrary.org/obo/GO_0100002		
MONDO:0021460	biolink:Disease	benign neoplasm of salivary gland	A benign neoplasm that involves the saliva-secreting gland.	NCIT:C4600|SCTID:255154009|UMLS:C0347206	mondo.json	benign salivary gland neoplasm|saliva-secreting gland benign neoplasm|benign tumor of salivary gland|benign tumor of the salivary gland|benign salivary gland tumor|benign neoplasm of the salivary gland|salivary gland neoplasm, benign	http://purl.obolibrary.org/obo/MONDO_0021460	http://identifiers.org/snomedct/255154009|UMLS:C0347206|NCIT:C4600	
MONDO:0021458	biolink:Disease	benign neoplasm of penis	A benign neoplasm that involves the penis.	UMLS:C0149627|SCTID:92286008|NCIT:C3489|ICD10CM:D29.0|ICD9:222.1	mondo.json	benign penile neoplasm|benign penile tumor|penis benign neoplasm|benign neoplasm of the penis|benign tumor of the penis|benign tumor of penis	http://purl.obolibrary.org/obo/MONDO_0021458	http://purl.bioontology.org/ontology/ICD10CM/D29.0|UMLS:C0149627|NCIT:C3489|http://identifiers.org/snomedct/92286008	
MONDO:0021459	biolink:Disease	benign neoplasm of esophagus	A benign neoplasm that involves the esophagus.	ICD9:211.0|ICD10CM:D13.0|SCTID:92091003|NCIT:C3598|UMLS:C0153942	mondo.json	benign neoplasm of the esophagus|benign tumor of the esophagus|benign esophagus tumor|benign tumor of esophagus|esophagus benign neoplasm|benign esophageal neoplasm|benign esophageal tumor|benign esophagus neoplasm	http://purl.obolibrary.org/obo/MONDO_0021459	http://identifiers.org/snomedct/92091003|http://purl.bioontology.org/ontology/ICD10CM/D13.0|NCIT:C3598|UMLS:C0153942	
GO:0016175	biolink:NamedThing	superoxide-generating NAD(P)H oxidase activity	Catalysis of the reaction: NAD(P)H + O2 = NAD(P)H + O2-.		mondo.json	cytochrome B-245	http://purl.obolibrary.org/obo/GO_0016175		
NCBITaxon:31953	biolink:OrganismalEntity	Bifidobacteriaceae		PMID:19244447|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_31953		
PATO:0001545	biolink:NamedThing	inflexible	A physical quality inhering in a bearer by virtue of the bearer's inability of being turned, bowed, or twisted without breaking.		mondo.json	stiff|stiffness	http://purl.obolibrary.org/obo/PATO_0001545		
GO:0004176	biolink:NamedThing	ATP-dependent peptidase activity	Catalysis of the hydrolysis of peptide bonds, driven by ATP hydrolysis.		mondo.json	ATP-dependent proteolysis	http://purl.obolibrary.org/obo/GO_0004176		
GO:0004175	biolink:NamedThing	endopeptidase activity	Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain.		mondo.json	proteinase|proteasome endopeptidase activity|elastase activity|endoprotease activity	http://purl.obolibrary.org/obo/GO_0004175		
PATO:0001546	biolink:NamedThing	quality of a solid	A physical quality inhering in a bearer by virtue of the bearer's exhibiting the physical characteristics of an entity characterized by particles arranged such that their shape and volume are relatively stable.		mondo.json	solidity	http://purl.obolibrary.org/obo/PATO_0001546		
PATO:0001543	biolink:NamedThing	flexibility	A physical quality inhering in a bearer by virtue of the bearer's disposition to being turned, bowed, or twisted without breaking.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001543		
NCBITaxon:43920	biolink:OrganismalEntity	Chrysopsinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_43920		
PATO:0001544	biolink:NamedThing	flexible	A physical quality inhering in a bearer by virtue of the bearer's ability of being turned, bowed, or twisted without breaking.		mondo.json	bendy	http://purl.obolibrary.org/obo/PATO_0001544		
GO:0004177	biolink:NamedThing	aminopeptidase activity	Catalysis of the hydrolysis of a single N-terminal amino acid residue from a polypeptide chain.		mondo.json		http://purl.obolibrary.org/obo/GO_0004177		
PATO:0001547	biolink:NamedThing	quality of a gas	A physical quality inhering in a bearer by virtue of the bearer's exhibiting the physical characteristics of an entity consisting of particles that have neither a defined volume nor defined shape.		mondo.json	gaseous	http://purl.obolibrary.org/obo/PATO_0001547		
PATO:0001548	biolink:NamedThing	quality of a liquid	A physical quality inhering in an entity exhibiting the physical characteristics of an amorphous (non-crystalline) form of matter between a gas and a solid that has a definite volume, but no definite shape.		mondo.json	liquidity	http://purl.obolibrary.org/obo/PATO_0001548		
GO:0090139	biolink:NamedThing	mitochondrial chromosome packaging	A process in which mitochondrial chromosomal DNA and associated proteins organize into a compact, orderly structure.		mondo.json	mitochondrial DNA packaging	http://purl.obolibrary.org/obo/GO_0090139		
CHEBI:138675	biolink:ChemicalSubstance	gas molecular entity	Any main group molecular entity that is gaseous at standard temperature and pressure (STP; 0degreeC and 100 kPa).		mondo.json	gas molecular entities|gaseous molecular entity|gaseous molecular entities	http://purl.obolibrary.org/obo/CHEBI_138675		
NCBITaxon:43913	biolink:OrganismalEntity	Chrysomyinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_43913		
PATO:0001555	biolink:NamedThing	has number of	The number of parts of a particular type that the bearer entity has. This is a relational quality, and thus holds between two entities: the bearer of the quality, and the type of parts.		mondo.json	number|mereological quality|has or lacks parts of type|number of|extra or missing physical or functional parts|cardinality	http://purl.obolibrary.org/obo/PATO_0001555		
ENVO:03520007	biolink:NamedThing	snow crystal	A water ice crystal which is constituted by water molecules aligned in a hexagonal array.		mondo.json	snowflake	http://purl.obolibrary.org/obo/ENVO_03520007		
GO:0016125	biolink:NamedThing	sterol metabolic process	The chemical reactions and pathways involving sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule.		mondo.json	sterol metabolism	http://purl.obolibrary.org/obo/GO_0016125		
GO:0016126	biolink:NamedThing	sterol biosynthetic process	The chemical reactions and pathways resulting in the formation of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule.		mondo.json	sterol synthesis|sterol formation|sterol anabolism|sterol biosynthesis	http://purl.obolibrary.org/obo/GO_0016126		
GO:0016127	biolink:NamedThing	sterol catabolic process	The chemical reactions and pathways resulting in the breakdown of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule.		mondo.json	sterol breakdown|sterol catabolism|sterol degradation	http://purl.obolibrary.org/obo/GO_0016127		
GO:0004155	biolink:NamedThing	6,7-dihydropteridine reductase activity	Catalysis of the reaction: NADP+ + 5,6,7,8-tetrahydropteridine = NADPH + H+ + 6,7-dihydropteridine.		mondo.json	NAD(P)H2:6,7-dihydropteridine oxidoreductase activity|6,7-dihydropteridine:NAD(P)H oxidoreductase activity|NADPH-specific dihydropteridine reductase activity|dihydropteridine reductase activity|5,6,7,8-tetrahydropteridine:NAD(P)+ oxidoreductase activity|dihydropteridine reduction|dihydropteridine reductase (NADH) activity|5,6,7,8-tetrahydropteridine:NAD(P)H+ oxidoreductase activity|dihydropteridine (reduced nicotinamide adenine dinucleotide) reductase activity|DHPR activity|NAD(P)H(2):6,7-dihydropteridine oxidoreductase activity|NADPH-dihydropteridine reductase activity|NADH-dihydropteridine reductase activity	http://purl.obolibrary.org/obo/GO_0004155		
PATO:0001566	biolink:NamedThing	distributed	A spatial pattern inhering in a bearer by virtue of the bearer's being spread out or scattered about or divided up.		mondo.json	diffuse|scattered	http://purl.obolibrary.org/obo/PATO_0001566		
HGNC:31582	biolink:NamedThing	MIR204			mondo.json		http://identifiers.org/hgnc/31582		
PATO:0001563	biolink:NamedThing	increased mass	A mass which is higher than normal or average.		mondo.json	high mass|large mass	http://purl.obolibrary.org/obo/PATO_0001563		
PATO:0001562	biolink:NamedThing	decreased mass	A mass which is lower than normal or average.		mondo.json	low mass|small mass	http://purl.obolibrary.org/obo/PATO_0001562		
MONDO:0033479	biolink:Disease	spinocerebellar ataxia 44		DOID:0080286|UMLS:CN492437|OMIM:617691	mondo.json	SCA44|spinocerebellar ataxia 44	http://purl.obolibrary.org/obo/MONDO_0033479	DOID:0080286|https://omim.org/entry/617691|UMLS:CN492437	
HGNC:18591	biolink:NamedThing	NEK9			mondo.json		http://identifiers.org/hgnc/18591		
GO:0100051	biolink:NamedThing	obsolete positive regulation of meiotic nuclear division by transcription from RNA polymerase II promoter	OBSOLETE. Any transcription from RNA polymerase II promoter process that positively regulates meiotic nuclear division.		mondo.json		http://purl.obolibrary.org/obo/GO_0100051		
MONDO:0008439	biolink:Disease	spastic paraplegia-epilepsy-intellectual disability syndrome		UMLS:C1866854|GARD:0004915|MESH:C536869|Orphanet:2816|OMIM:182610	mondo.json	SPEMR|spastic paraplegia epilepsy mental retardation|spastic paraplegia epilepsy intellectual disability|spemr|spastic paraplegia, epilepsy, and intellectual disability|spastic paraplegia, epilepsy, and mental retardation	http://purl.obolibrary.org/obo/MONDO_0008439	UMLS:C1866854|https://omim.org/entry/182610|http://identifiers.org/mesh/C536869	ordo_disease
MONDO:0008438	biolink:Disease	hereditary spastic paraplegia 4	Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.	OMIM:182601|UMLS:C1866855|Orphanet:100985|DOID:0110792|GARD:0004925|UMLS:C4510079|SCTID:723820001|MESH:C536865|NCIT:C129981	mondo.json	familial spastic paraplegia, autosomal dominant, 2|spastic paraplegia 4, autosomal dominant|hereditary spastic paraplegia 4|autosomal dominant spastic paraplegia type 4|familial spastic paraplegia autosomal dominant 2|SPG4|SPAST hereditary spastic paraplegia|autosomal dominant spastic paraplegia 4|FSP2|spastic paraplegia 4|hereditary spastic paraplegia type 4|hereditary spastic paraplegia caused by mutation in SPAST	http://purl.obolibrary.org/obo/MONDO_0008438	Orphanet:100985|https://omim.org/entry/182601|NCIT:C129981|http://identifiers.org/snomedct/723820001|http://identifiers.org/mesh/C536865|DOID:0110792|UMLS:C4510079|UMLS:C1866855	ordo_disease
MONDO:0021412	biolink:Disease	polyp of maxillary sinus	A polyp that involves the maxillary sinus.	UMLS:C0264239|NCIT:C3931|SCTID:29074008|ICD9:471.8	mondo.json	maxillary antral polyp|maxillary sinus polyp|polyp of the maxillary sinus	http://purl.obolibrary.org/obo/MONDO_0021412	UMLS:C0264239|NCIT:C3931|http://identifiers.org/snomedct/29074008	
MONDO:0008437	biolink:Disease	hereditary spastic paraplegia 3A	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene.	NCIT:C142893|UMLS:C2931355|OMIM:182600|DOID:0110791|GARD:0005041|MESH:C536864|Orphanet:100984	mondo.json	familial spastic paraplegia, autosomal dominant, 1|spastic paraplegia 3, autosomal dominant|Strumpell disease|autosomal dominant familial spastic paraplegia 1|Spg3|ATL1 hereditary spastic paraplegia|SPG3A|FSP1|hereditary spastic paraplegia caused by mutation in ATL1|strumpell disease|autosomal dominant spastic paraplegia type 3|Strümpell disease|autosomal dominant spastic paraplegia 3|spastic Paraplegia 3A|spastic paraplegia 3|hereditary spastic paraplegia type 3A|spastic paraplegia 3a, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008437	NCIT:C142893|Orphanet:100984|https://omim.org/entry/182600|http://identifiers.org/mesh/C536864|DOID:0110791|UMLS:C2931355	ordo_disease
MONDO:0008436	biolink:Disease	Sneddon syndrome	Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.	UMLS:C0282492|SCTID:238776001|MedDRA:10053841|DOID:13096|OMIM:182410|EFO:1001186|Orphanet:820|MESH:D018860|GARD:0007664	mondo.json	livedo reticularis-cerebrovascular accident syndrome|Ehrmann-Sneddon syndrome|livedo racemosa and cerebrovascular accidents|cerebro-vascular lesions and livedo reticularis|idiopathic livedo reticularis with systemic involvement|livedo racemosa-cerebrovascular accident syndrome|Sneddon's syndrome|Sneddon syndrome|livedo reticularis and cerebrovascular accidents	http://purl.obolibrary.org/obo/MONDO_0008436	https://omim.org/entry/182410|UMLS:C0282492|DOID:13096|Orphanet:820|http://identifiers.org/snomedct/238776001|http://identifiers.org/mesh/D018860	ordo_disease|gard_rare
MONDO:0008435	biolink:Disease	Somatomedin, embryonic		OMIM:182400	mondo.json	Somatomedin, embryonic	http://purl.obolibrary.org/obo/MONDO_0008435	https://omim.org/entry/182400	
MONDO:0008434	biolink:Disease	Smith-Magenis syndrome	Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.	DOID:0060768|ICD9:758.33|DECIPHER:8|GARD:0008197|SCTID:401315004|UMLS:C0795864|MESH:D058496|Orphanet:819|NCIT:C75469|OMIM:182290	mondo.json	Smith-Magenis syndrome, Isolated cases|SMS|chromosome 17P11.2 deletion syndrome|chromosome 17p11.2 deletion syndrome|Smith-Magenis chromosome region|SMITH-Magenis syndrome|Smith-Magenis syndrome|17p11.2 microdeletion syndrome|Smith-Magenis syndrome chromosome region	http://purl.obolibrary.org/obo/MONDO_0008434	http://identifiers.org/mesh/D058496|https://omim.org/entry/182290|http://identifiers.org/snomedct/401315004|UMLS:C0795864|NCIT:C75469|Orphanet:819|DOID:0060768	ordo_malformation_syndrome
MONDO:0008433	biolink:Disease	small cell lung carcinoma	Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.	EFO:0000702|NCIT:C4917|OMIM:182280|SCTID:254632001|ICD9:162.9|DOID:5409|ONCOTREE:SCLC|DOID:5411|MESH:D055752|UMLS:CN244903|UMLS:C0262584|KEGG:05222|Orphanet:70573	mondo.json	small cell lung cancer|oat cell carcinoma of the lung|oat cell carcinoma (morphologic abnormality)|SCLC1|small cell cancer of the lung|lung small cell neuroendocrine carcinoma|small cell neuroendocrine carcinoma of lung|small-cell cancer of lung|oat cell carcinoma|small cell carcinoma of the lung|SCLC|oat cell lung carcinoma|small cell neuroendocrine carcinoma of the lung|lung small cell carcinoma|small cell cancer of the lung, somatic|lung oat cell carcinoma|small cell carcinoma of lung|poorly differentiated endocrine neoplasm|oat cell carcinoma of lung	http://purl.obolibrary.org/obo/MONDO_0008433	NCIT:C4917|https://omim.org/entry/182280|UMLS:CN244903|DOID:5411|DOID:5409|http://identifiers.org/mesh/D055752|Orphanet:70573|http://identifiers.org/snomedct/254632001|UMLS:C0262584	ordo_disease
MONDO:0008432	biolink:Disease	obsolete ketone compounds, ability to smell		OMIM:182270	mondo.json	ketone compounds, ability to smell	http://purl.obolibrary.org/obo/MONDO_0008432	https://omim.org/entry/182270	
MONDO:0008431	biolink:Disease	slipped femoral capital epiphyses	A developmental deformity in which the metaphysis of the femur moves proximally and anteriorly away from femur head (epiphysis) at the upper growth plate. It is most common in male adolescents and is associated with a greater risk of early osteoarthritis of the hip.	OMIM:182260|MESH:D060048|UMLS:C0149887	mondo.json	epiphysiolysis capitis femoris|slipped femoral capital epiphyses	http://purl.obolibrary.org/obo/MONDO_0008431	UMLS:C0149887|http://identifiers.org/mesh/D060048|https://omim.org/entry/182260	
MONDO:0008430	biolink:Disease	skeletal dysplasia with delayed epiphyseal and carpal bone ossification		MESH:C566687|OMIM:182255|UMLS:C1866939	mondo.json	skeletal dysplasia with delayed epiphyseal and carpal bone ossification	http://purl.obolibrary.org/obo/MONDO_0008430	https://omim.org/entry/182255|http://identifiers.org/mesh/C566687|UMLS:C1866939	
NCBITaxon:28344	biolink:OrganismalEntity	Porcine reproductive and respiratory syndrome virus		GC_ID:1	mondo.json	PRRSV|porcine reproductive and respiratory syndrome virus PRRSV|Porcine respiratory and reproductive syndrome virus|Porcine reproductive and respiratory syndrome virus (PRRSV)|porcine reproductive and respiratory syndrome virus, PRRSV	http://purl.obolibrary.org/obo/NCBITaxon_28344		
UBERON:0005076	biolink:AnatomicalEntity	hindbrain-spinal cord boundary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005076		
UBERON:0005075	biolink:AnatomicalEntity	forebrain-midbrain boundary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005075		
MONDO:0021404	biolink:Disease	polyp of sphenoidal sinus	A polyp that involves the sphenoidal sinus.	ICD9:471.8|SCTID:90685008|NCIT:C3933|UMLS:C0264255	mondo.json	sphenoid sinus polyp|polyp of sphenoid sinus|polyp of the sphenoid sinus|polyp of the sphenoidal sinus|sphenoidal sinus polyp	http://purl.obolibrary.org/obo/MONDO_0021404	NCIT:C3933|UMLS:C0264255|http://identifiers.org/snomedct/90685008	
MONDO:0021408	biolink:Disease	polyp of frontal sinus	A polyp that involves the frontal sinus.	SCTID:195759002|NCIT:C4367|ICD9:471.8|UMLS:C0339814	mondo.json	frontal sinus polyp|polyp of the frontal sinus	http://purl.obolibrary.org/obo/MONDO_0021408	UMLS:C0339814|http://identifiers.org/snomedct/195759002|NCIT:C4367	
MONDO:0021400	biolink:Disease	polyp of colon	A polyp that involves the colon.	ICD10CM:K63.5|MESH:D003111|SCTID:68496003|NCIT:C2954	mondo.json	colonic polyp|colon polyp|polyp of the colon	http://purl.obolibrary.org/obo/MONDO_0021400	NCIT:C2954|http://identifiers.org/mesh/D003111|http://identifiers.org/snomedct/68496003|http://purl.bioontology.org/ontology/ICD10CM/K63.5	
MONDO:0008449	biolink:Disease	spina bifida	A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae.	ICD9:741|HP:0002414|EFO:0003105|MESH:D016135|SCTID:67531005|NCIT:C101214|DOID:0080016	mondo.json	spinal meningocele|NTD|spina bifida (disease)|rachischisis|spinal myelomeningocele|neural tube defects, susceptibility to|spina bifida|spinal myelocele	http://purl.obolibrary.org/obo/MONDO_0008449	DOID:0080016|http://identifiers.org/snomedct/67531005|NCIT:C101214|http://identifiers.org/mesh/D016135	
MONDO:0021402	biolink:Disease	polyp of external auditory canal	A polyp that involves the external acoustic meatus.	SCTID:95211004|NCIT:C4366|UMLS:C0339765	mondo.json	external Ear polyp|polyp of the external auditory canal|external acoustic meatus polyp|external auditory canal polyp	http://purl.obolibrary.org/obo/MONDO_0021402	UMLS:C0339765|NCIT:C4366|http://identifiers.org/snomedct/95211004	
MONDO:0008448	biolink:Disease	spheroid body myopathy	Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.	MESH:C000598645|OMIM:182920|DOID:0080091|UMLS:C1866785|SCTID:765092004|Orphanet:268129|GARD:0008711	mondo.json	myopathy, spheroid body|autosomal dominant spheroid body myopathy	http://purl.obolibrary.org/obo/MONDO_0008448	http://identifiers.org/mesh/C000598645|Orphanet:268129|DOID:0080091|https://omim.org/entry/182920|http://identifiers.org/snomedct/765092004|UMLS:C1866785	gard_rare|ordo_disease
MONDO:0008447	biolink:Disease	hereditary spherocytosis type 1	Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene.	DOID:0110916|UMLS:C2674218|OMIM:182900	mondo.json	hereditary spherocytosis 1|spherocytosis, type 1|SPH1|spherocytosis, hereditary, 1|Sph|hereditary spherocytosis caused by mutation in ANK1|HS1|ANK1 hereditary spherocytosis	http://purl.obolibrary.org/obo/MONDO_0008447	https://omim.org/entry/182900|UMLS:C2674218|DOID:0110916	
PATO:0001501	biolink:NamedThing	immature	A quality inhering in a bearer by virtue of the bearer's lacking complete growth, differentiation, or development.		mondo.json	underdeveloped	http://purl.obolibrary.org/obo/PATO_0001501		
MONDO:0008446	biolink:Disease	sperm protamine P4		OMIM:182882	mondo.json	sperm protamine P4|PRM4	http://purl.obolibrary.org/obo/MONDO_0008446	https://omim.org/entry/182882	
MONDO:0008445	biolink:Disease	delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome	This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.	GARD:0003449|UMLS:C2931119|OMIM:182875|Orphanet:3038|SCTID:716199000	mondo.json	speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe CREASE|Mehes syndrome|delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases	http://purl.obolibrary.org/obo/MONDO_0008445	https://omim.org/entry/182875|UMLS:C2931119|http://identifiers.org/snomedct/716199000|Orphanet:3038	ordo_malformation_syndrome
MONDO:0008444	biolink:Disease	spastic paraplegia, optic atrophy, and dementia		MESH:C566679|UMLS:C1866849|OMIM:182830	mondo.json	spastic paraplegia, optic atrophy, and dementia	http://purl.obolibrary.org/obo/MONDO_0008444	https://omim.org/entry/182830|http://identifiers.org/mesh/C566679|UMLS:C1866849	
MONDO:0008443	biolink:Disease	spastic paraplegia-precocious puberty syndrome	Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression.	UMLS:C1866850|Orphanet:2826|OMIM:182820|MESH:C536874|GARD:0004918	mondo.json	familial spastic paraplegia, mental retardation, and precocious puberty|familial spastic paraplegia, intellectual disability, and precocious puberty|precocious puberty with spastic paraplegia|spastic paraplegia with precocious puberty	http://purl.obolibrary.org/obo/MONDO_0008443	https://omim.org/entry/182820|Orphanet:2826|http://identifiers.org/mesh/C536874|UMLS:C1866850	ordo_disease
MONDO:0008442	biolink:Disease	spastic paraplegia-neuropathy-poikiloderma syndrome	Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.	OMIM:182815|GARD:0004921|UMLS:C1866851|Orphanet:2821|MESH:C536870	mondo.json	spastic paraplegia neuropathy poikiloderma|familial spastic paraplegia with neuropathy and poikiloderma|spastic paraplegia with neuropathy and poikiloderma|Antinolo-Nieto-Borrego syndrome	http://purl.obolibrary.org/obo/MONDO_0008442	https://omim.org/entry/182815|Orphanet:2821|http://identifiers.org/mesh/C536870|UMLS:C1866851	ordo_disease
MONDO:0008441	biolink:Disease	spastic paraplegia with associated extrapyramidal signs		OMIM:182800|MESH:C566681|UMLS:C1866852	mondo.json	spastic paraplegia with associated extrapyramidal signs	http://purl.obolibrary.org/obo/MONDO_0008441	https://omim.org/entry/182800|http://identifiers.org/mesh/C566681|UMLS:C1866852	
MONDO:0008440	biolink:Disease	spastic paraplegia-nephritis-deafness syndrome	This syndrome is characterised by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy.	UMLS:C2931667|OMIM:182690|Orphanet:2820|GARD:0002342|MESH:C537937	mondo.json	spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and progressive nephropathy|spastic paraplegia - nephritis - deafness|spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy|Fitzsimmons Walson Mellor syndrome|Fitzsimmons-Walson-Mellor syndrome|spastic paraplegia, sensorineural deafness, intellectual disability, and progressive nephropathy	http://purl.obolibrary.org/obo/MONDO_0008440	https://omim.org/entry/182690|Orphanet:2820|http://identifiers.org/mesh/C537937|UMLS:C2931667	ordo_clinical_syndrome|gard_rare
UBERON:0005068	biolink:AnatomicalEntity	neural rod			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005068		
UBERON:0005066	biolink:AnatomicalEntity	right ventricular trabecular myocardium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005066		
UBERON:0005064	biolink:AnatomicalEntity	left ventricular trabecular myocardium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005064		
UBERON:0005062	biolink:AnatomicalEntity	neural fold			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005062		
UBERON:0005061	biolink:AnatomicalEntity	neural groove			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005061		
HGNC:18571	biolink:NamedThing	XKRY			mondo.json		http://identifiers.org/hgnc/18571		
GO:0100070	biolink:NamedThing	obsolete obsolete regulation of fatty acid biosynthetic process by transcription from RNA polymerase II promoter	OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates fatty acid biosynthetic process.		mondo.json		http://purl.obolibrary.org/obo/GO_0100070		
MONDO:0008419	biolink:Disease	scoliosis, isolated, susceptibility to, 1		OMIM:181800	mondo.json	scoliosis, idiopathic 1|adolescent idiopathic scoliosis|scoliosis, isolated, susceptibility to, 1|adolescent isolated scoliosis|IS1	http://purl.obolibrary.org/obo/MONDO_0008419	https://omim.org/entry/181800	predisposition
MONDO:0008418	biolink:Disease	scleroderma, familial progressive		UMLS:C1866983|OMIM:181750|UMLS:C0206138|Orphanet:90290	mondo.json	systemic sclerosis, susceptibility to|Crest syndrome|scleroderma, familial progressive	http://purl.obolibrary.org/obo/MONDO_0008418	UMLS:C1866983|https://omim.org/entry/181750	
MONDO:0008417	biolink:Disease	sclerocornea, autosomal dominant		MESH:C566692|OMIM:181700	mondo.json	sclerocornea, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008417	https://omim.org/entry/181700|http://identifiers.org/mesh/C566692	
MONDO:0008416	biolink:Disease	palmoplantar keratoderma-sclerodactyly syndrome		ICD9:757.39|SCTID:239076000|Orphanet:384|MESH:C537526|GARD:0008517|OMIM:181600	mondo.json	atrophic fibrosis of the skin of the limbs, hypoplasia of nails, and keratodermia of the palms and soles|Huriez syndrome|SCLEROTYLOSIS|Tys|Sclerotylosis|palmoplantar hyperkeratosis-sclerodactyly syndrome|HRZ|HURIEZ syndrome|Scleroatrophic syndrome|Scleroatrophic and keratotic dermatosis of limbs	http://purl.obolibrary.org/obo/MONDO_0008416	http://identifiers.org/snomedct/239076000|https://omim.org/entry/181600|http://identifiers.org/mesh/C537526|Orphanet:384	gard_rare|ordo_disease
MONDO:0008415	biolink:Disease	obsolete Scholte syndrome		OMIM:181515	mondo.json		http://purl.obolibrary.org/obo/MONDO_0008415	https://omim.org/entry/181515	
MONDO:0008414	biolink:Disease	schizophrenia 1	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35.	OMIM:181510|DOID:0070077	mondo.json	SCZD1|schizophrenia 1 with or without an affective disorder|schizophrenia 1|schizophrenia susceptibility locus, chromosome 5-related	http://purl.obolibrary.org/obo/MONDO_0008414	DOID:0070077|https://omim.org/entry/181510	
MONDO:0008413	biolink:Disease	obsolete schizophrenia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008413		
MONDO:0008412	biolink:Disease	intestinal schistosomiasis	An intestinal infection that is caused by Schistosoma japonicum.	EFO:1001419|UMLS:C0276932|ICD9:120.2|SCTID:268058007|ICD9:120.1|MESH:D012555|MESH:D012554|SCTID:52179003|SCTID:240796008|NCIT:C35002|NCIT:C35364|NCIT:C35001|OMIM:181460|DOID:0050597|SCTID:750009	mondo.json	Schistosoma mansoni infection, susceptibility/resistance to|Katayama fever|Schistosoma mansoni, intensity of infection by|schistosomiasis japonica	http://purl.obolibrary.org/obo/MONDO_0008412	http://identifiers.org/snomedct/240796008|DOID:0050597	
MONDO:0008411	biolink:Disease	ulnar-mammary syndrome	Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.	DOID:0060614|ICD9:759.89|GARD:0000118|OMIM:181450|Orphanet:3138|MESH:C536937|SCTID:700211007|UMLS:C1866994	mondo.json	ums|Schinzel syndrome|ulnar-mammary syndrome|ulnar-mammary syndrome of Pallister|Pallister ulnar-mammary syndrome	http://purl.obolibrary.org/obo/MONDO_0008411	UMLS:C1866994|Orphanet:3138|http://identifiers.org/snomedct/700211007|https://omim.org/entry/181450|http://identifiers.org/mesh/C536937|DOID:0060614	ordo_malformation_syndrome|gard_rare
MONDO:0008410	biolink:Disease	Scheuermann disease	A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood.	ICD9:732.0|DOID:13300|NCIT:C34999|OMIM:181440|Orphanet:3135|UMLS:C0036310|MESH:D012544|SCTID:53406005|GARD:0007610|EFO:0008576	mondo.json	Calve's disease|Scheuermann kyphosis|familial spinal osteochondrosis|spinal Osteochondrosis|Sherman's disease|Scheuermann's kyphosis|juvenile osteochondrosis of spine|juvenile kyphosis|juvenile osteochondritis of the spine|Scheuermann's disease|juvenile osteochondrosis of Scheurermann|Scheuermann disease|Scheuermann juvenile kyphosis|familial Scheuermann disease|familial Scheuermann juvenile kyphosis	http://purl.obolibrary.org/obo/MONDO_0008410	http://identifiers.org/snomedct/53406005|Orphanet:3135|https://omim.org/entry/181440|http://identifiers.org/mesh/D012544|NCIT:C34999|DOID:13300|UMLS:C0036310	ordo_malformation_syndrome
NCBITaxon:207245	biolink:OrganismalEntity	Fornicata		GC_ID:1	mondo.json	Diplomonadida group	http://purl.obolibrary.org/obo/NCBITaxon_207245		
UBERON:0005057	biolink:AnatomicalEntity	immune organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005057		
NCBITaxon:31979	biolink:OrganismalEntity	Clostridiaceae		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_31979		
UBERON:0005056	biolink:AnatomicalEntity	external female genitalia			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005056		
UBERON:0005055	biolink:AnatomicalEntity	zone of long bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005055		
CHR:9606-chr1q2	biolink:NamedThing	1q2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr1q2		
UBERON:0005051	biolink:AnatomicalEntity	mediastinum testis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005051		
CHR:9606-chr1q4	biolink:NamedThing	1q4 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr1q4		
HGNC:31555	biolink:NamedThing	MIR184			mondo.json		http://identifiers.org/hgnc/31555		
HGNC:18576	biolink:NamedThing	CCNO			mondo.json		http://identifiers.org/hgnc/18576		
UBERON:0005058	biolink:AnatomicalEntity	hemolymphoid system gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005058		
MONDO:0008429	biolink:Disease	Singleton-Merten dysplasia	Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).	MESH:C537343|UMLS:C0432254|OMIMPS:182250|ICD9:733.29|GARD:0000122|SCTID:254114000|Orphanet:85191	mondo.json	widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness|Merten-Singleton syndrome|Singleton-Merten syndrome|syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition|singleton Merten syndrome|SGMRT1|SM syndrome	http://purl.obolibrary.org/obo/MONDO_0008429	http://identifiers.org/snomedct/254114000|https://omim.org/phenotypicSeries/PS182250|http://identifiers.org/mesh/C537343|Orphanet:85191|UMLS:C0432254	ordo_malformation_syndrome|gard_rare
OBO:pato#has_cross_section	biolink:NamedThing	has_cross_section	s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2.		mondo.json		http://purl.obolibrary.org/obo/pato#has_cross_section		
MONDO:0008428	biolink:Disease	septooptic dysplasia	Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.	UMLS:C0162809|UMLS:C0338503|DOID:0060857|SCTID:7611002|MedDRA:10067159|NCIT:C85063|OMIM:182230|GARD:0007627|MESH:D025962|Orphanet:3157	mondo.json	SOD|pituitary hormone deficiency, combined, 5|De Morsier syndrome|hypopituitarism and septooptic 'dysplasia'|septo-optic dysplasia|septo-optic dysplasia sequence|septo-optic dysplasia with growth hormone deficiency|septo-optic dysplasia spectrum|septooptic dysplasia|Growth hormone deficiency with pituitary anomalies	http://purl.obolibrary.org/obo/MONDO_0008428	DOID:0060857|Orphanet:3157|https://omim.org/entry/182230|http://identifiers.org/snomedct/7611002|http://identifiers.org/mesh/D025962|UMLS:C0338503|NCIT:C85063	ordo_malformation_syndrome
MONDO:0008427	biolink:Disease	sister chromatid exchange, frequency of		OMIM:182220	mondo.json	sister chromatid exchange, frequency of|SCE, frequency of	http://purl.obolibrary.org/obo/MONDO_0008427	https://omim.org/entry/182220	
MONDO:0008426	biolink:Disease	Shprintzen-Goldberg syndrome	Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.	OMIM:182212|NCIT:C124840|SCTID:719069008|GARD:0004861|Orphanet:2462|UMLS:C1321551	mondo.json	Marfanoid disorder with craniosynostosis type 1|Shprintzen-Goldberg craniosynostosis syndrome|Marfanoid disorder with craniosynostosis, type 1|Marfanoid craniosynostosis syndrome|Shprintzen-Goldberg syndrome|SGS|Shprintzen-Goldberg marfanoid syndrome|Marfanoid-craniosynostosis syndrome|craniosynostosis with arachnodactyly and abdominal hernias	http://purl.obolibrary.org/obo/MONDO_0008426	NCIT:C124840|https://omim.org/entry/182212|UMLS:C1321551|Orphanet:2462|http://identifiers.org/snomedct/719069008	clingen|ordo_malformation_syndrome
MONDO:0008425	biolink:Disease	omphalocele syndrome, Shprintzen-Goldberg type	Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.	OMIM:182210|GARD:0009850|UMLS:C1866958|SCTID:716230005|MESH:C537329|Orphanet:3164	mondo.json	omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis|omphalocele, laryngeal and pharyngeal hypoplasia, learning disabilities, dysmorphic facies and spinal anomalies|laryngeal and pharyngeal hypoplasia with omphalocele|Shprintzen-Goldberg omphalocele syndrome|pharynx and larynx hypoplasia with omphalocele|Shprintzen omphalocele syndrome	http://purl.obolibrary.org/obo/MONDO_0008425	UMLS:C1866958|Orphanet:3164|https://omim.org/entry/182210|http://identifiers.org/mesh/C537329|http://identifiers.org/snomedct/716230005	ordo_malformation_syndrome
MONDO:0008424	biolink:Disease	sella turcica, bridged		OMIM:182200|MESH:C566689	mondo.json	sella turcica, bridged	http://purl.obolibrary.org/obo/MONDO_0008424	https://omim.org/entry/182200|http://identifiers.org/mesh/C566689	
MONDO:0008423	biolink:Disease	sinus node disease and myopia		GARD:0004880|MESH:C566690|UMLS:C1866960|OMIM:182190	mondo.json	sinus node disease and myopia|Sss-myopia syndrome|sick sinus syndrome and myopia	http://purl.obolibrary.org/obo/MONDO_0008423	https://omim.org/entry/182190|http://identifiers.org/mesh/C566690|UMLS:C1866960	gard_rare
MONDO:0008422	biolink:Disease	autosomal dominant sideroblastic anemia	Autosomal dominant form of sideroblastic anemia.	OMIM:182170|MESH:C567160|DOID:0060335|UMLS:C2674249	mondo.json	SIDBA4|sideroblastic anemia, autosomal dominant|anemia, sideroblastic, autosomal dominant|anemia, sideroblastic, 4	http://purl.obolibrary.org/obo/MONDO_0008422	https://omim.org/entry/182170|http://identifiers.org/mesh/C567160|UMLS:C2674249|DOID:0060335	
MONDO:0008421	biolink:Disease	flat face-microstomia-ear anomaly syndrome	Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.	OMIM:182150|UMLS:C1866962|MESH:C537339|Orphanet:1968|GARD:0004873	mondo.json	Simosa-Penchaszadeh-Bustos syndrome|blepharophimosis-telecanthus-microstomia syndrome|SIMOSA craniofacial syndrome|Simosa cranio facial syndrome	http://purl.obolibrary.org/obo/MONDO_0008421	https://omim.org/entry/182150|http://identifiers.org/mesh/C537339|Orphanet:1968|UMLS:C1866962	ordo_malformation_syndrome
MONDO:0008420	biolink:Disease	seborrheic keratosis	A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions.	NCIT:C9006|Wikipedia:Seborrheic_keratosis|UMLS:C0022603|ICD9:702.1|GARD:0003108|SCTID:398838000|MESH:D017492|OMIM:182000|DOID:6498|ICD10CM:L82|EFO:0005584	mondo.json	keratosis, seborrheic|keratosis Seborrheica|keratosis, seborrheic, somatic|basal cell papilloma	http://purl.obolibrary.org/obo/MONDO_0008420	https://omim.org/entry/182000|DOID:6498|NCIT:C9006|http://purl.bioontology.org/ontology/ICD10CM/L82|UMLS:C0022603|http://identifiers.org/mesh/D017492	
NCBITaxon:28314	biolink:OrganismalEntity	Aleutian mink disease virus		GC_ID:1	mondo.json	Aleutian mink disease parvovirus|Aleutian disease virus|AMDV	http://purl.obolibrary.org/obo/NCBITaxon_28314		
NCBITaxon:31969	biolink:OrganismalEntity	Mollicutes		PMID:2592342|PMID:11321122|PMID:17978244|GC_ID:11|PMID:15143038|PMID:23606477|PMID:8123554|PMID:8863414|PMID:8863413	mondo.json	Mycoplasmas and walled relatives|mycoplasmas|Paramycetes	http://purl.obolibrary.org/obo/NCBITaxon_31969		
UBERON:0005046	biolink:AnatomicalEntity	mucosa of hard palate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005046		
UBERON:0005045	biolink:AnatomicalEntity	mucosa of ethmoidal sinus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005045		
UBERON:0005044	biolink:AnatomicalEntity	mucosa of pharyngotympanic tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005044		
UBERON:0005043	biolink:AnatomicalEntity	mucosa of nasolacrimal duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005043		
UBERON:0005042	biolink:AnatomicalEntity	inner epithelial layer of tympanic membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005042		
UBERON:0005041	biolink:AnatomicalEntity	mucosa of respiratory bronchiole			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005041		
UBERON:0005040	biolink:AnatomicalEntity	mucosa of terminal bronchiole			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005040		
UBERON:0005049	biolink:AnatomicalEntity	mucosa of infundibulum of uterine tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005049		
UBERON:0005048	biolink:AnatomicalEntity	mucosa of uterine tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005048		
UBERON:0005047	biolink:AnatomicalEntity	mucosa of vocal fold			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005047		
MONDO:0021450	biolink:Disease	benign neoplasm of heart	A benign neoplasm that involves the heart.	SCTID:92132009|ICD9:212.7|ICD10CM:D15.1|UMLS:C0153957|NCIT:C3605	mondo.json	benign Cardiac neoplasm|benign Cardiac tumor|benign heart neoplasm|benign neoplasm of the heart|heart benign neoplasm|benign heart tumor|benign tumor of the heart|benign tumor of heart	http://purl.obolibrary.org/obo/MONDO_0021450	NCIT:C3605|http://identifiers.org/snomedct/92132009|UMLS:C0153957|http://purl.bioontology.org/ontology/ICD10CM/D15.1	
MONDO:0021451	biolink:Disease	benign neoplasm of brain	A benign neoplasm that involves the brain.	EFO:1000107|SCTID:92030004|NCIT:C4781|ICD9:225.0	mondo.json	benign brain neoplasm|benign neoplasm of the brain|brain neoplasms, benign|benign tumor of the brain|benign brain tumor|benign tumor of brain|brain benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021451	http://identifiers.org/snomedct/92030004|NCIT:C4781	
HGNC:18550	biolink:NamedThing	IER3IP1			mondo.json		http://identifiers.org/hgnc/18550		
MONDO:0021452	biolink:Disease	benign neoplasm of cornea	A benign neoplasm that involves the cornea.	UMLS:C0154026|NCIT:C3623|ICD9:224.4|SCTID:92070006	mondo.json	benign tumor of cornea|benign tumor of the cornea|benign neoplasm of the cornea|benign cornea tumor|benign corneal tumor|benign corneal neoplasm|benign cornea neoplasm|cornea benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021452	NCIT:C3623|http://identifiers.org/snomedct/92070006|UMLS:C0154026	
MONDO:0021453	biolink:Disease	benign neoplasm of retina	A benign neoplasm that involves the retina.	NCIT:C3624|UMLS:C0154027|ICD9:224.5|SCTID:92321003	mondo.json	benign neoplasm of the retina|benign retina tumor|benign retinal tumor|benign retinal neoplasm|benign retina neoplasm|retina benign neoplasm|benign tumor of retina|benign tumor of the retina	http://purl.obolibrary.org/obo/MONDO_0021453	NCIT:C3624|UMLS:C0154027|http://identifiers.org/snomedct/92321003	
MONDO:0021454	biolink:Disease	benign neoplasm of eye	A benign neoplasm that involves the eye.	ICD9:224.8|ICD9:224.9|SCTID:92097004|UMLS:C0496897|ICD9:224.0|NCIT:C4780	mondo.json	eye benign neoplasm|benign neoplasm of the eye|benign ocular tumor|benign tumor of the eye|benign eye tumor|benign tumor of eye|benign eye neoplasm|benign ocular neoplasm	http://purl.obolibrary.org/obo/MONDO_0021454	http://identifiers.org/snomedct/92097004|NCIT:C4780|UMLS:C0496897	
MONDO:0021455	biolink:Disease	benign neoplasm of neck	A benign neoplasm that involves the neck.	SCTID:92246000|NCIT:C4884|UMLS:C0684815|ICD9:229.8	mondo.json	benign neck neoplasm|benign tumor of neck|neck benign neoplasm|benign tumor of the neck|benign neoplasm of the neck|benign neck tumor	http://purl.obolibrary.org/obo/MONDO_0021455	UMLS:C0684815|NCIT:C4884|http://identifiers.org/snomedct/92246000	
MONDO:0021456	biolink:Disease	benign neoplasm of sternum	A benign neoplasm that involves the sternum.	UMLS:C0347312|NCIT:C8416|SCTID:92410006	mondo.json	benign sternal tumor|benign neoplasm of the sternum|benign tumor of the sternum|benign tumor of sternum|benign sternal neoplasm|sternum benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021456	http://identifiers.org/snomedct/92410006|UMLS:C0347312|NCIT:C8416	
MONDO:0021457	biolink:Disease	benign neoplasm of pleura	A benign neoplasm that involves the pleura.	NCIT:C3603|ICD9:212.4|SCTID:92298003|UMLS:C0153955	mondo.json	benign tumor of pleura|benign tumor of the pleura|benign pleural tumor|benign neoplasm of the pleura|benign pleural neoplasm|pleura benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021457	UMLS:C0153955|NCIT:C3603|http://identifiers.org/snomedct/92298003	
MONDO:0008479	biolink:Disease	spondylometaphyseal dysplasia, 'corner fracture' type	A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).	UMLS:C0432221|MESH:C535793|GARD:0004991|OMIM:184255|Orphanet:93315|SCTID:254078005	mondo.json	spondylometaphyseal dysplasia corner fracture type|SMDCF|Sutcliffe SmD|spondylometaphyseal dysplasia, Sutcliffe type|Sutcliffe type of spondylometaphyseal dysplasia|spondylometaphyseal dysplasia, corner fracture type|spondylometaphyseal dysplasia Sutcliffe type	http://purl.obolibrary.org/obo/MONDO_0008479	UMLS:C0432221|http://identifiers.org/mesh/C535793|https://omim.org/entry/184255|Orphanet:93315|http://identifiers.org/snomedct/254078005	ordo_disease|gard_rare
MONDO:0008478	biolink:Disease	spondylometaphyseal dysplasia, Schmidt type	Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.	SCTID:719304005|MESH:C535794|Orphanet:93316|GARD:0000504|OMIM:184253	mondo.json	spondylometaphyseal dysplasia Schmidt type|spondylometaphyseal dysplasia, Algerian type|spondylometaphyseal dysplasia with severe genu valgum|spondylometaphyseal dysplasia, Schmidt type|Schmid metaphyseal dysostosis|spondylometaphyseal dysplasia Algerian type	http://purl.obolibrary.org/obo/MONDO_0008478	http://identifiers.org/mesh/C535794|http://identifiers.org/snomedct/719304005|https://omim.org/entry/184253|Orphanet:93316	ordo_disease
MONDO:0008477	biolink:Disease	spondylometaphyseal dysplasia, Kozlowski type	Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.	MESH:C535797|GARD:0003047|Orphanet:93314|DOID:0111554|OMIM:184252	mondo.json	Jequier-Kozlowski syndrome|Jequier Kozlowski skeletal dysplasia|SMDK|skeletal dysplasia Jequier-Kozlowski type|SmD Kozlowski type|SmD, Kozlowski type|spondylometaphyseal dysplasia, Kozlowski type|Dysmorphism arthrogryposis skeletal maturation advanced	http://purl.obolibrary.org/obo/MONDO_0008477	DOID:0111554|http://identifiers.org/mesh/C535797|https://omim.org/entry/184252|Orphanet:93314	ordo_disease|gard_rare
MONDO:0008476	biolink:Disease	spondyloepimetaphyseal dysplasia, Strudwick type	A spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).	GARD:0000134|SCTID:702350003|Orphanet:93346|OMIM:184250|ICD9:758.89|DOID:0080028	mondo.json	SMED Strudwick type|Semdc|spondylometaepiphyseal dysplasia congenita, Strudwick type|spondylometaphyseal dysplasia|Smed, type 1|Strudwick syndrome|spondyloepimetaphyseal dysplasia, Strudwick type|SMED type 1|SEMDSTWK|spondyloepimetaphyseal dysplasia Strudwick type|spondyloepimetaphyseal dysplasia congenita, Strudwick type|dappled metaphysis syndrome|SmD|SEMD, Strudwick type|Smed, Strudwick type	http://purl.obolibrary.org/obo/MONDO_0008476	Orphanet:93346|http://identifiers.org/snomedct/702350003|https://omim.org/entry/184250|DOID:0080028	gard_rare|ordo_disease
MONDO:0008475	biolink:Disease	spondylolisthesis	A condition in which there is forward displacement of a vertebral bone over the on below it.	NCIT:C35033|UMLS:C0038016|HP:0003302|EFO:0007493|OMIM:184200|MESH:D013168|DOID:6682|SCTID:274152003	mondo.json	spondylolisthesis (disease)|spondylolisthesis	http://purl.obolibrary.org/obo/MONDO_0008475	https://omim.org/entry/184200|http://identifiers.org/snomedct/274152003|NCIT:C35033|UMLS:C0038016|DOID:6682|http://identifiers.org/mesh/D013168	
MONDO:0008474	biolink:Disease	spondyloepiphyseal dysplasia tarda, autosomal dominant	Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies.	UMLS:C1866717|OMIM:184100|GARD:0010624|MESH:C566658	mondo.json	spondyloepiphyseal dysplasia tarda, autosomal dominant|autosomal dominant spondyloepiphyseal dysplasia tarda	http://purl.obolibrary.org/obo/MONDO_0008474	UMLS:C1866717|https://omim.org/entry/184100|http://identifiers.org/mesh/C566658	gard_rare
GO:0100017	biolink:NamedThing	obsolete negative regulation of cell-cell adhesion by transcription from RNA polymerase II promoter	OBSOLETE. Any transcription from RNA polymerase II promoter process that negatively regulates single organismal cell-cell adhesion.		mondo.json		http://purl.obolibrary.org/obo/GO_0100017		
MONDO:0008473	biolink:Disease	spondyloepimetaphyseal dysplasia, Maroteaux type	A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.	SCTID:719204007|UMLS:CN202294|DOID:0111553|Orphanet:263482|OMIM:184095|GARD:0000994	mondo.json	spondyloepiphyseal dysplasia, Maroteaux type|spondyloepimetaphyseal dysplasia, Maroteaux type|pseudo-Morquio syndrome, type 2|spondyloepiphyseal dysplasia Maroteaux type|brachyolmia Maroteaux type|SED, Maroteaux type|pseudo-Morquio syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0008473	DOID:0111553|https://omim.org/entry/184095|Orphanet:263482|UMLS:CN202294|http://identifiers.org/snomedct/719204007	ordo_disease
GO:0100018	biolink:NamedThing	obsolete regulation of glucose import by transcription from RNA polymerase II promoter	OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates glucose import.		mondo.json		http://purl.obolibrary.org/obo/GO_0100018		
MONDO:0008472	biolink:Disease	spondyloepiphyseal dysplasia, MacDermot type	Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.	Orphanet:163668|OMIM:184000|MESH:C566659|UMLS:C1866719	mondo.json	spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome|spondyloepiphyseal dysplasia, myopia, and sensorineural deafness	http://purl.obolibrary.org/obo/MONDO_0008472	Orphanet:163668|UMLS:C1866719|https://omim.org/entry/184000|http://identifiers.org/mesh/C566659	ordo_malformation_syndrome
MONDO:0008471	biolink:Disease	spondyloepiphyseal dysplasia congenita	A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.	ICD9:756.9|OMIM:183900|DOID:14789|MedDRA:10062920|Orphanet:94068|ICD10CM:Q77.7|SCTID:278713008|GARD:0004987|MESH:C535788	mondo.json	SEDC|spondyloepiphyseal dysplasia congenita|spondyloepiphyseal dysplasia, congenital type|SED congenita|Spranger-Wiedemann disease|congenital spondyloepiphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0008471	DOID:14789|http://identifiers.org/mesh/C535788|Orphanet:94068|https://omim.org/entry/183900|http://identifiers.org/snomedct/278713008	ordo_disease|gard_rare
MONDO:0008470	biolink:Disease	spondyloepiphyseal dysplasia with punctate corneal dystrophy		MESH:C566660|OMIM:183850|UMLS:C1866727|Orphanet:163673	mondo.json	spondyloepiphyseal dysplasia with punctate corneal dystrophy|spondyloepiphyseal dysplasia, Byers type	http://purl.obolibrary.org/obo/MONDO_0008470	UMLS:C1866727|https://omim.org/entry/183850|http://identifiers.org/mesh/C566660	
FOODON:03400004	biolink:NamedThing	obsolete: product type, other		http://www.langual.org/langual_thesaurus.asp?termid=A0004	mondo.json		http://purl.obolibrary.org/obo/FOODON_03400004		
MONDO:0021447	biolink:Disease	benign neoplasm of testis	A benign neoplasm that involves the testis.	UMLS:C0154007|SCTID:92428008|ICD9:222.0|NCIT:C3612	mondo.json	benign tumor of the testis|benign testicular neoplasm|benign neoplasm of the testis|benign testicular tumor|testis benign neoplasm|benign tumor of testis	http://purl.obolibrary.org/obo/MONDO_0021447	UMLS:C0154007|NCIT:C3612|http://identifiers.org/snomedct/92428008	
MONDO:0021448	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0021448		
MONDO:0021449	biolink:Disease	benign neoplasm of stomach	A benign neoplasm that involves the stomach.	ICD9:211.1|ICD10CM:D13.1|NCIT:C3599|UMLS:C0153943|SCTID:92411005	mondo.json	stomach tumors, benign|stomach benign neoplasm|gastric neoplasms, benign|benign gastric tumor|benign gastric neoplasm|benign tumors of the stomach|benign tumors of stomach|benign gastric tumors|benign neoplasm of the stomach|stomach neoplasms, benign|gastric tumors, benign|benign tumor of the stomach|benign tumor of stomach|benign stomach tumors|benign stomach neoplasms	http://purl.obolibrary.org/obo/MONDO_0021449	http://purl.bioontology.org/ontology/ICD10CM/D13.1|http://identifiers.org/snomedct/92411005|UMLS:C0153943|NCIT:C3599	
MONDO:0021440	biolink:Disease	benign neoplasm of skin	A benign neoplasm that involves the zone of skin.	ICD9:216.9|UMLS:C0004998|SCTID:92384009|NCIT:C2896|ICD9:216.8	mondo.json	skin neoplasms, benign|zone of skin benign neoplasm|benign skin neoplasm|benign cutaneous neoplasm|benign cutaneous tumor|benign tumor of skin|benign tumor of the skin|benign skin tumor|benign neoplasm of the skin	http://purl.obolibrary.org/obo/MONDO_0021440	UMLS:C0004998|http://identifiers.org/snomedct/92384009|NCIT:C2896	
MONDO:0021441	biolink:Disease	benign neoplasm of exocrine pancreas	A benign neoplasm that involves the exocrine pancreas.	NCIT:C4613|SCTID:271956003|UMLS:C0347285	mondo.json	benign exocrine pancreatic neoplasm|benign exocrine pancreas neoplasm|benign neoplasm of the exocrine pancreas|benign exocrine pancreas tumor|benign tumor of the exocrine pancreas|benign tumor of exocrine pancreas|exocrine pancreas benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021441	UMLS:C0347285|NCIT:C4613|http://identifiers.org/snomedct/271956003	
MONDO:0021443	biolink:Disease	benign neoplasm of lymph node	A benign neoplasm that involves the lymph node.	DOID:0080617|NCIT:C3636|ICD9:229.0|UMLS:C0154054|SCTID:92197001	mondo.json	benign tumor of lymph node|benign tumor of the lymph node|benign neoplasm of the lymph node|benign lymph node tumor|benign lymph node neoplasm|lymph node benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021443	UMLS:C0154054|NCIT:C3636|http://identifiers.org/snomedct/92197001|DOID:0080617	
MONDO:0021444	biolink:Disease	benign neoplasm of large intestine	A benign neoplasm that involves the large intestine.	SCTID:92170008|NCIT:C4610|UMLS:C0347272	mondo.json	colorectal neoplasms, benign|large intestine benign neoplasm|benign neoplasm of the large bowel|benign neoplasm of large bowel|benign tumor of the large bowel|benign large bowel tumor|tumors, colorectal, benign|colorectal tumors, benign|benign tumor of large bowel|benign colorectal neoplasm|benign large intestine neoplasm|benign colorectal tumors|benign neoplasm of the large intestine|benign large intestine tumor|benign colorectal tumor|benign tumor of the large intestine|benign tumor of large intestine|neoplasms, colorectal, benign|benign large bowel neoplasm|benign colorectal neoplasms	http://purl.obolibrary.org/obo/MONDO_0021444	UMLS:C0347272|NCIT:C4610|http://identifiers.org/snomedct/92170008	
MONDO:0021445	biolink:Disease	benign neoplasm of oral cavity	A benign neoplasm that involves the oral cavity.	UMLS:C0347197|NCIT:C7607|SCTID:419645003|ICD9:210.4	mondo.json	benign neoplasm of the oral cavity|benign neoplasm of the mouth|benign oral cavity tumor|benign tumor of the oral cavity|benign neoplasm of mouth|oral cavity benign neoplasm|benign tumor of oral cavity|benign mouth tumor|benign mouth neoplasm|benign tumor of the mouth|benign oral cavity neoplasm|benign tumor of mouth	http://purl.obolibrary.org/obo/MONDO_0021445	NCIT:C7607|UMLS:C0347197|http://identifiers.org/snomedct/419645003	
GO:0100020	biolink:NamedThing	obsolete regulation of transport by transcription from RNA polymerase II promoter	OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates transport.		mondo.json		http://purl.obolibrary.org/obo/GO_0100020		
GO:0100021	biolink:NamedThing	obsolete regulation of iron ion transport by transcription from RNA polymerase II promoter	OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates iron ion transport.		mondo.json	regulation of iron ion import by transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0100021		
MONDO:0021446	biolink:Disease	benign neoplasm of epiglottis	A benign neoplasm that involves the epiglottis.	NCIT:C4606|SCTID:92089006|UMLS:C0347236	mondo.json	epiglottis benign neoplasm|benign Epiglottis neoplasm|benign epiglottic neoplasm|benign tumor of Epiglottis|benign tumor of the Epiglottis|benign Epiglottis tumor|benign epiglottic tumor|benign neoplasm of the Epiglottis	http://purl.obolibrary.org/obo/MONDO_0021446	UMLS:C0347236|NCIT:C4606|http://identifiers.org/snomedct/92089006	
GO:0100023	biolink:NamedThing	obsolete regulation of meiotic nuclear division by transcription from RNA polymerase II promoter	OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates meiotic nuclear division.		mondo.json		http://purl.obolibrary.org/obo/GO_0100023		
MONDO:0008489	biolink:Disease	sternum, premature obliteration of sutures of		OMIM:184800	mondo.json	sternum, premature obliteration of sutures of	http://purl.obolibrary.org/obo/MONDO_0008489	https://omim.org/entry/184800	
GO:0100024	biolink:NamedThing	obsolete regulation of carbohydrate metabolic process by transcription from RNA polymerase II promoter	OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates carbohydrate metabolic process.		mondo.json		http://purl.obolibrary.org/obo/GO_0100024		
MONDO:0008488	biolink:Disease	holoprosencephaly-radial heart renal anomalies syndrome	Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder.	Orphanet:3186|UMLS:C1866649|OMIM:184705|GARD:0002727|MESH:C566655|SCTID:716233007	mondo.json	STEINFELD syndrome|Steinfeld syndrome|holoprosencephaly radial heart renal anomalies	http://purl.obolibrary.org/obo/MONDO_0008488	UMLS:C1866649|Orphanet:3186|https://omim.org/entry/184705|http://identifiers.org/snomedct/716233007|http://identifiers.org/mesh/C566655	gard_rare|ordo_malformation_syndrome
NCBITaxon:1870884	biolink:OrganismalEntity	Clostridioides		PMID:27370902|GC_ID:11|PMID:27902176	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1870884		
GO:0100025	biolink:NamedThing	obsolete negative regulation of cellular amino acid biosynthetic process by transcription from RNA polymerase II promoter	OBSOLETE. Any transcription from RNA polymerase II promoter process that negatively regulates cellular amino acid biosynthetic process.		mondo.json		http://purl.obolibrary.org/obo/GO_0100025		
MONDO:0008487	biolink:Disease	polycystic ovary syndrome	A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity.	SCTID:69878008|NCIT:C26862|Orphanet:3185|MESH:D011085|ICD9:256.4|UMLS:C0032460|OMIM:184700|EFO:0000660|DOID:11612	mondo.json	Stein-Leventhal syndrome|polycystic ovary|PCOS1|multicystic ovaries|polycystic ovarian disease|PCOS|hyperandrogenemia|Stein-Leventhal synd.|polycystic ovary syndrome|polycystic ovaries|PCO1|polycystic ovary syndrome 1	http://purl.obolibrary.org/obo/MONDO_0008487	http://identifiers.org/mesh/D011085|DOID:11612|NCIT:C26862|http://identifiers.org/snomedct/69878008|Orphanet:3185|https://omim.org/entry/184700|UMLS:C0032460	
GO:0100026	biolink:NamedThing	obsolete positive regulation of DNA repair by transcription from RNA polymerase II promoter	OBSOLETE. Any transcription from RNA polymerase II promoter process that positively regulates DNA repair.		mondo.json		http://purl.obolibrary.org/obo/GO_0100026		
MONDO:0008486	biolink:Disease	steatocystoma multiplex-natal teeth syndrome	The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth.	GARD:0005004|MESH:C537487|OMIM:184510|Orphanet:3184|UMLS:C1866650	mondo.json	STEATOCYSTOMA multiplex with NATAL teeth|Natal teeth and steatocystoma multiplex	http://purl.obolibrary.org/obo/MONDO_0008486	UMLS:C1866650|https://omim.org/entry/184510|Orphanet:3184|http://identifiers.org/mesh/C537487	ordo_malformation_syndrome
MONDO:0008485	biolink:Disease	sebocystomatosis	Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.	SCTID:109433009|Orphanet:841|DOID:0111556|OMIM:184500|GARD:0005003|UMLS:C0259771|UMLS:C3671377	mondo.json	Steatocystoma multiplex|multiplex steatocystoma|STEATOCYSTOMA multiplex|sebaceous cysts, multiple|multiple sebaceous cysts	http://purl.obolibrary.org/obo/MONDO_0008485	DOID:0111556|Orphanet:841|UMLS:C0259771|UMLS:C3671377|https://omim.org/entry/184500|http://identifiers.org/snomedct/109433009	ordo_disease
MONDO:0008484	biolink:Disease	stapes ankylosis with broad thumbs and toes	Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	SCTID:719305006|Orphanet:140917|OMIM:184460|UMLS:C1866656	mondo.json	Teunissen-Cremers syndrome|ankylosis of stapes, hyperopia, Broad thumbs, Broad first toes, and syndactyly|stapes ankylosis with BROAD thumb and toes|stapes ankylosis syndrome without symphalangism	http://purl.obolibrary.org/obo/MONDO_0008484	http://identifiers.org/snomedct/719305006|UMLS:C1866656|https://omim.org/entry/184460|Orphanet:140917	ordo_malformation_syndrome
MONDO:0008483	biolink:Disease	stuttering, familial persistent, 1		OMIM:184450	mondo.json	stammering|stuttering, familial persistent, 1|STUT1	http://purl.obolibrary.org/obo/MONDO_0008483	https://omim.org/entry/184450	
MONDO:0008482	biolink:Disease	Sprengel deformity		SCTID:79120002|OMIM:184400|Orphanet:3181|GARD:0007693|MESH:C535802|MedDRA:10010455|HP:0000912	mondo.json	Sprengel's deformity|Sprengel's shoulder|congenital elevation of the scapula|congenital upward displacement of the scapula|Sprengel deformity (disease)|Sprengel deformity|high scapula	http://purl.obolibrary.org/obo/MONDO_0008482	http://identifiers.org/mesh/C535802|https://omim.org/entry/184400|http://identifiers.org/snomedct/79120002|Orphanet:3181	ordo_morphological_anomaly
MONDO:0008481	biolink:Disease	spondylosis, cervical		OMIM:184300|UMLS:C1384641|SCTID:387800004	mondo.json	spondylosis, cervical	http://purl.obolibrary.org/obo/MONDO_0008481	UMLS:C1384641|https://omim.org/entry/184300|http://identifiers.org/snomedct/387800004	
MONDO:0008480	biolink:Disease	obsolete odontochondrodysplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008480		
NCBITaxon:7742	biolink:OrganismalEntity	Vertebrata <Metazoa>		GC_ID:1	mondo.json	Vertebrata|vertebrates|vertebrates	http://purl.obolibrary.org/obo/NCBITaxon_7742		
MONDO:0021436	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0021436		
HGNC:18568	biolink:NamedThing	HSFY1			mondo.json		http://identifiers.org/hgnc/18568		
MONDO:0021437	biolink:Disease	lipoma of stomach	A lipoma that involves the stomach.	UMLS:C1333777|SCTID:695751021000132104|NCIT:C5258	mondo.json	stomach lipoma|lipoma of the stomach|gastric lipoma	http://purl.obolibrary.org/obo/MONDO_0021437	http://identifiers.org/snomedct/695751021000132104|NCIT:C5258|UMLS:C1333777	
MONDO:0021439	biolink:Disease	benign neoplasm of pituitary gland	A benign neoplasm that involves the pituitary gland.	NCIT:C4782|ICD10CM:D35.2|UMLS:C0496901|DOID:60009|SCTID:92296004	mondo.json	pituitary gland benign neoplasm|benign pituitary neoplasm|benign pituitary gland neoplasm|benign neoplasm of the pituitary gland|pituitary tumor, benign|benign pituitary gland tumor|benign tumor of the pituitary gland|benign neoplasm of the pituitary|benign neoplasm of pituitary|benign tumor of pituitary gland|pituitary neoplasms, benign|benign tumor of the pituitary|benign pituitary tumor|benign tumor of pituitary	http://purl.obolibrary.org/obo/MONDO_0021439	http://purl.bioontology.org/ontology/ICD10CM/D35.2|http://identifiers.org/snomedct/92296004|NCIT:C4782|UMLS:C0496901|DOID:60009	
MONDO:0021431	biolink:Disease	squamous cell carcinoma of buccal mucosa	A squamous cell carcinoma that involves the buccal mucosa.	NCIT:C4040|SCTID:254437001|UMLS:C0280299	mondo.json	scc of the buccal mucosa|scc of buccal mucosa|squamous cell carcinoma of the buccal mucosa|buccal mucosa squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0021431	NCIT:C4040|http://identifiers.org/snomedct/254437001|UMLS:C0280299	
MONDO:0021433	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0021433		
MONDO:0021434	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0021434		
MONDO:0008459	biolink:Disease	spinocerebellar atrophy with pupillary paralysis		UMLS:C1866746|MESH:C566668|OMIM:183100	mondo.json	spinocerebellar atrophy with pupillary paralysis	http://purl.obolibrary.org/obo/MONDO_0008459	http://identifiers.org/mesh/C566668|UMLS:C1866746|https://omim.org/entry/183100	
GO:0100032	biolink:NamedThing	obsolete positive regulation of phospholipid biosynthetic process by transcription from RNA polymerase II promoter	OBSOLETE. Any transcription from RNA polymerase II promoter process that positively regulates phospholipid biosynthetic process.		mondo.json		http://purl.obolibrary.org/obo/GO_0100032		
MONDO:0008458	biolink:Disease	spinocerebellar ataxia type 2	Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.	NCIT:C148315|OMIM:183090|UMLS:C0752121|DOID:0050955|GARD:0004072|Orphanet:98756|SCTID:715751004|DOID:0060204	mondo.json	spinocerebellar ataxia Cuban type|amyotrophic lateral sclerosis 13|spinocerebellar atrophy 2|spinocerebellar ataxia 2|spinocerebellar ataxia type 2|SCA2|spinocerebellar ataxia with slow eye movements|olivopontocerebellar atrophy, Holguin type|amyotrophic lateral sclerosis, susceptibility to, 13|Wadia-swami syndrome|spinocerebellar Degeneration with slow eye movements|ATXN2 autosomal dominant cerebellar ataxia type I|amyotrophic lateral sclerosis type 13|olivopontocerebellar atrophy 2|ALS13|cerebellar Degeneration with slow eye movements|Wadia swami syndrome|autosomal dominant cerebellar ataxia type I caused by mutation in ATXN2|OPCA2|spinocerebellar ataxia, Cuban type|olivopontocerebellar atrophy Holguin type|SCA 2	http://purl.obolibrary.org/obo/MONDO_0008458	UMLS:C0752121|Orphanet:98756|DOID:0050955|http://identifiers.org/snomedct/715751004|https://omim.org/entry/183090|NCIT:C148315	ordo_disease|predisposition
MONDO:0008457	biolink:Disease	spinocerebellar ataxia type 6	Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.	DOID:0050956|NCIT:C142838|UMLS:C0752124|OMIM:183086|GARD:0010351|SCTID:715752006|Orphanet:98758	mondo.json	SCA6|spinocerebellar ataxia type 6|CACNA1A autosomal dominant cerebellar ataxia type III|spinocerebellar ataxia 6|autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1A	http://purl.obolibrary.org/obo/MONDO_0008457	UMLS:C0752124|Orphanet:98758|DOID:0050956|http://identifiers.org/snomedct/715752006|NCIT:C142838|https://omim.org/entry/183086	gard_rare|ordo_disease
UBERON:0005092	biolink:AnatomicalEntity	right horn of sinus venosus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005092		
MONDO:0008456	biolink:Disease	spinocerebellar ataxia with rigidity and peripheral neuropathy		MESH:C566669|UMLS:C1866770|OMIM:183050	mondo.json	spinocerebellar ataxia with rigidity and peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0008456	http://identifiers.org/mesh/C566669|UMLS:C1866770|https://omim.org/entry/183050	
MONDO:0008455	biolink:Disease	spinal muscular atrophy, segmental		OMIM:183020|UMLS:C1866774|MESH:C566670	mondo.json	spinal muscular atrophy, segmental	http://purl.obolibrary.org/obo/MONDO_0008455	http://identifiers.org/mesh/C566670|UMLS:C1866774|https://omim.org/entry/183020	
UBERON:0005090	biolink:AnatomicalEntity	muscle structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005090		
GO:0100036	biolink:NamedThing	obsolete positive regulation of purine nucleotide biosynthetic process by transcription from RNA polymerase II promoter	OBSOLETE. Any transcription from RNA polymerase II promoter process that positively regulates purine nucleotide biosynthetic process.		mondo.json		http://purl.obolibrary.org/obo/GO_0100036		
MONDO:0008454	biolink:Disease	spinal intradural arachnoid cysts	Spinal intradural arachnoid cysts are cerebrospinal fluid -filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and arecaused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery.	MESH:C536878|GARD:0009701|OMIM:182990	mondo.json	spinal intradural arachnoid cysts|arachnoid cysts, spinal intradural	http://purl.obolibrary.org/obo/MONDO_0008454	https://omim.org/entry/182990|http://identifiers.org/mesh/C536878	gard_rare
MONDO:0008453	biolink:Disease	adult-onset proximal spinal muscular atrophy, autosomal dominant		UMLS:CN200940|DOID:0111194|OMIM:182980|Orphanet:209335	mondo.json	autosomal dominant adult-onset proximal SMA|SMAFK|autosomal dominant adult-onset proximal spinal muscular atrophy|spinal muscular atrophy, proximal, adult, autosomal dominant|Finkel disease|autosomal dominant late-onset spinal muscular atrophy, Finkel type|spinal muscular atrophy, late-onset, FINKEL type|Finkel late-adult type Sma	http://purl.obolibrary.org/obo/MONDO_0008453	Orphanet:209335|https://omim.org/entry/182980|DOID:0111194|UMLS:CN200940	ordo_disease
MONDO:0008452	biolink:Disease	spinal muscular atrophy, facioscapulohumeral type		MESH:C566674|UMLS:C1866783|OMIM:182970	mondo.json	Fshsma|spinal muscular atrophy, facioscapulohumeral type	http://purl.obolibrary.org/obo/MONDO_0008452	https://omim.org/entry/182970|http://identifiers.org/mesh/C566674|UMLS:C1866783	
MONDO:0008451	biolink:Disease	neuronopathy, distal hereditary motor, type 1	An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration.	Orphanet:139518|UMLS:C1866784|NCIT:C132826|MESH:C566675|OMIM:182960|DOID:0111200	mondo.json	autosomal dominant distal juvenile spinal muscular atrophy type 1|neuronopathy, distal hereditary motor, type I|neuropathy, distal hereditary motor, type 1|Charcot-Marie-Tooth disease, spinal, I|HMN1|spinal muscular atrophy, distal, juvenile, autosomal dominant, 1|HMN 1|dHMN1|distal hereditary motor neuronopathy type I|Charcot-Marie-Tooth disease, spinal, 1	http://purl.obolibrary.org/obo/MONDO_0008451	https://omim.org/entry/182960|http://identifiers.org/mesh/C566675|DOID:0111200|NCIT:C132826|UMLS:C1866784|Orphanet:139518	ordo_disease
MONDO:0008450	biolink:Disease	spinal arachnoiditis	A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor.	UMLS:C1710146|OMIM:182950|SCTID:426055002|MESH:C531624|NCIT:C50749	mondo.json	arachnoiditis, spinal|spinal arachnoiditis	http://purl.obolibrary.org/obo/MONDO_0008450	https://omim.org/entry/182950|UMLS:C1710146|NCIT:C50749|http://identifiers.org/mesh/C531624|http://identifiers.org/snomedct/426055002	
HGNC:18539	biolink:NamedThing	STX1B			mondo.json		http://identifiers.org/hgnc/18539		
UBERON:0005096	biolink:AnatomicalEntity	descending thin limb			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005096		
UBERON:0005095	biolink:AnatomicalEntity	kidney rudiment			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005095		
MONDO:0021427	biolink:Disease	squamous cell carcinoma of lip	A squamous cell carcinoma that involves the lip.	SCTID:255071008|NCIT:C4042|UMLS:C0280302|Orphanet:502366	mondo.json	lip squamous cell carcinoma|scc of the Lip|scc of Lip|lip scc|squamous cell carcinoma of the Lip	http://purl.obolibrary.org/obo/MONDO_0021427	UMLS:C0280302|NCIT:C4042|http://identifiers.org/snomedct/255071008|Orphanet:502366	ordo_disease
MONDO:0021429	biolink:Disease	squamous cell carcinoma of floor of mouth	A squamous cell carcinoma that involves the mouth floor.	SCTID:276954004|NCIT:C4041|UMLS:C0280300	mondo.json	squamous cell carcinoma of the floor of mouth|mouth floor squamous cell carcinoma|scc of floor of mouth|scc of the floor of mouth|floor of mouth squamous cell carcinoma|floor of mouth scc	http://purl.obolibrary.org/obo/MONDO_0021429	UMLS:C0280300|NCIT:C4041|http://identifiers.org/snomedct/276954004	
MONDO:0021420	biolink:Disease	polyp of vocal cord	A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice.	UMLS:C0042929|SCTID:9078005|NCIT:C3440	mondo.json	laryngeal vocal fold polyp|vocal cord polyp|polyp of the vocal cord	http://purl.obolibrary.org/obo/MONDO_0021420	NCIT:C3440|http://identifiers.org/snomedct/9078005|UMLS:C0042929	
MONDO:0021421	biolink:Disease	obsolete carcinoid tumors, intestina			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021421		
NCBITaxon:43987	biolink:OrganismalEntity	Geotrichum		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_43987		
MONDO:0021422	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0021422		
NCBITaxon:7711	biolink:OrganismalEntity	Chordata		GC_ID:1	mondo.json	chordates|chordates	http://purl.obolibrary.org/obo/NCBITaxon_7711		
MONDO:0021424	biolink:Disease	hemangiopericytoma of skin	A hemangiopericytoma that involves the zone of skin.	NCIT:C4492|UMLS:C0346084|SCTID:254796009	mondo.json	hemangiopericytoma of the skin|skin hemangiopericytoma|zone of skin hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0021424	http://identifiers.org/snomedct/254796009|NCIT:C4492|UMLS:C0346084	
MONDO:0008469	biolink:Disease	spondyloepimetaphyseal dysplasia-hypotrichosis syndrome	A rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.	Orphanet:168443|OMIM:183849|GARD:0010101|MESH:C535783|UMLS:C1866728	mondo.json	Whyte Petersen McAlister syndrome|Whyte syndrome|spondyloepimetaphyseal dysplasia with hypotrichosis	http://purl.obolibrary.org/obo/MONDO_0008469	http://identifiers.org/mesh/C535783|UMLS:C1866728|Orphanet:168443|https://omim.org/entry/183849	ordo_disease
UBERON:0005082	biolink:AnatomicalEntity	tube lumen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005082		
MONDO:0008468	biolink:Disease	spondyloarthropathy, susceptibility to, 2		OMIM:183840|DOID:0080604|UMLS:C1866738	mondo.json	spondyloarthropathy, susceptibility to, 2|SPDA2	http://purl.obolibrary.org/obo/MONDO_0008468	DOID:0080604|UMLS:C1866738|https://omim.org/entry/183840	predisposition
UBERON:0005081	biolink:AnatomicalEntity	ureter ureteric bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005081		
NCBITaxon:2547934	biolink:OrganismalEntity	Blastocystidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2547934		
MONDO:0008467	biolink:Disease	Czeizel-Losonci syndrome	Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987.	UMLS:C1866739|OMIM:183802|MESH:C566662|Orphanet:2437|GARD:0004969	mondo.json	split hand urinary anomalies spina bifida|split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects|split hand with obstructive uropathy, spina bifida and diaphragmatic defects|split hand-urinary anomalies-spina bifida syndrome	http://purl.obolibrary.org/obo/MONDO_0008467	http://identifiers.org/mesh/C566662|UMLS:C1866739|https://omim.org/entry/183802|Orphanet:2437	ordo_malformation_syndrome
UBERON:0005080	biolink:AnatomicalEntity	metanephric ureteric bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005080		
MONDO:0008466	biolink:Disease	Karsch-Neugebauer syndrome	Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.	GARD:0004967|MESH:C537319|Orphanet:2329|OMIM:183800|SCTID:722032005|UMLS:C1866740	mondo.json	Nystagmus-split hand syndrome|split hand/split foot-nystagmus syndrome|split hand split foot nystagmus|KNS|split hand nystagmus syndrome|Karsch-Neugebauer syndrome|split-hand with congenital NYSTAGMUS, fundal changes, and cataracts	http://purl.obolibrary.org/obo/MONDO_0008466	http://identifiers.org/mesh/C537319|http://identifiers.org/snomedct/722032005|UMLS:C1866740|https://omim.org/entry/183800|Orphanet:2329	ordo_malformation_syndrome
MONDO:0008465	biolink:Disease	Patterson-Stevenson-Fontaine syndrome	Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.	Orphanet:2439|OMIM:183700|SCTID:724069009|UMLS:C1866741|GARD:0004260	mondo.json	split-foot deformity with ectrodactyly and mandibulofacial dysostosis|Patterson Stevenson Fontaine syndrome|split-foot deformity with mandibulofacial dysostosis|Patterson-Stevenson syndrome|split foot deformity-mandibulofacial dysostosis syndrome|Patterson-Stevenson-Fontaine syndrome	http://purl.obolibrary.org/obo/MONDO_0008465	http://identifiers.org/snomedct/724069009|https://omim.org/entry/183700|Orphanet:2439	gard_rare|ordo_malformation_syndrome
MONDO:0008464	biolink:Disease	split hand-foot malformation 1	Split-hand/foot malformation mapped to chromosome 7q21.3	OMIM:183600|DOID:0090021|DECIPHER:46|UMLS:C2931019|GARD:0007685|NCIT:C75045	mondo.json	ectrodactyly|split-hand/foot deformity 1|split-hand/foot malformation type 1|split hand-foot malformation type 1|SHFD1|SHFM1|split-hand deformity|split hand/foot malformation 1|split-hand/foot malformation 1|split-hand/foot malformation 1 with or without deafness	http://purl.obolibrary.org/obo/MONDO_0008464	NCIT:C75045|DOID:0090021|UMLS:C2931019|https://omim.org/entry/183600	
MONDO:0008463	biolink:Disease	split-hand and split-foot with hypodontia		MESH:C566665|UMLS:C1866742|OMIM:183500	mondo.json	split-hand and split-foot with hypodontia	http://purl.obolibrary.org/obo/MONDO_0008463	http://identifiers.org/mesh/C566665|UMLS:C1866742|https://omim.org/entry/183500	
MONDO:0008462	biolink:Disease	split lower lip		OMIM:183400	mondo.json	split lower lip|split Lower type lip	http://purl.obolibrary.org/obo/MONDO_0008462	https://omim.org/entry/183400	
MONDO:0008461	biolink:Disease	splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells		UMLS:C1866744|OMIM:183350|MESH:C566666	mondo.json	splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells	http://purl.obolibrary.org/obo/MONDO_0008461	http://identifiers.org/mesh/C566666|UMLS:C1866744|https://omim.org/entry/183350	
MONDO:0008460	biolink:Disease	splenogonadal fusion-limb defects-micrognathia syndrome	Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.	GARD:0004963|OMIM:183300|Orphanet:2063|SCTID:726724005|MESH:C537318|UMLS:C1866745	mondo.json	splenogonadal fusion limb defects syndrome|splenogonadal fusion limb defects micrognatia|SGFLD syndrome|splenogonadal fusion limb defect syndrome|Sgfld syndrome|splenogonadal fusion with limb defects and micrognathia	http://purl.obolibrary.org/obo/MONDO_0008460	UMLS:C1866745|http://identifiers.org/snomedct/726724005|https://omim.org/entry/183300|Orphanet:2063|http://identifiers.org/mesh/C537318	ordo_malformation_syndrome
UBERON:0005089	biolink:AnatomicalEntity	sweat gland placode			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005089		
UBERON:0005088	biolink:AnatomicalEntity	sebaceous gland placode			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005088		
UBERON:0005087	biolink:AnatomicalEntity	tooth placode			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005087		
UBERON:0005086	biolink:AnatomicalEntity	hair follicle placode			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005086		
UBERON:0005085	biolink:AnatomicalEntity	ectodermal placode			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005085		
MONDO:0021416	biolink:Disease	polyp of gallbladder	A polyp that involves the gall bladder.	NCIT:C3909|SCTID:197433003|UMLS:C0262493	mondo.json	polyp of the gallbladder|gallbladder polyp|gall bladder polyp	http://purl.obolibrary.org/obo/MONDO_0021416	http://identifiers.org/snomedct/197433003|UMLS:C0262493|NCIT:C3909	
MONDO:0021418	biolink:Disease	polyp of ethmoidal sinus	A polyp that involves the ethmoid sinus.	ICD9:471.8|SCTID:23966000|UMLS:C0264248|NCIT:C3932	mondo.json	polyp of ethmoid sinus|polyp of the ethmoidal sinus|ethmoidal sinus polyp|ethmoid sinus polyp|ethmoidal polyp|polyp of the ethmoid sinus	http://purl.obolibrary.org/obo/MONDO_0021418	NCIT:C3932|UMLS:C0264248|http://identifiers.org/snomedct/23966000	
HGNC:18540	biolink:NamedThing	CPT1C			mondo.json		http://identifiers.org/hgnc/18540		
GO:0006704	biolink:NamedThing	glucocorticoid biosynthetic process	The chemical reactions and pathways resulting in the formation of glucocorticoids, hormonal C21 corticosteroids synthesized from cholesterol.		mondo.json	glucocorticoid anabolism|glucocorticoid synthesis|glucocorticoid formation|glucocorticoid biosynthesis	http://purl.obolibrary.org/obo/GO_0006704		
GO:0006705	biolink:NamedThing	mineralocorticoid biosynthetic process	The chemical reactions and pathways resulting in the formation of mineralocorticoids, hormonal C21 corticosteroids synthesized from cholesterol.		mondo.json	mineralocorticoid biosynthesis|mineralocorticoid formation|mineralocorticoid anabolism|mineralocorticoid synthesis	http://purl.obolibrary.org/obo/GO_0006705		
HGNC:3519	biolink:NamedThing	EYA1			mondo.json		http://identifiers.org/hgnc/3519		
HGNC:3518	biolink:NamedThing	EXTL3			mondo.json		http://identifiers.org/hgnc/3518		
UBERON:0005111	biolink:AnatomicalEntity	metanephric pyramid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005111		
UBERON:0005110	biolink:AnatomicalEntity	metanephric nephron			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005110		
UBERON:0007778	biolink:AnatomicalEntity	umbilical artery endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007778		
UBERON:0007779	biolink:AnatomicalEntity	transudate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007779		
HP:0003468	biolink:PhenotypicFeature	Abnormal vertebral morphology	An abnormality of one or more of the vertebrae.	SNOMEDCT_US:205043005|UMLS:C4020840|SNOMEDCT_US:74877002|UMLS:C4020839|Fyler:4108|UMLS:C0158775	mondo.json	Abnormal vertebral bodies|Vertebral anomalies|Abnormal vertebrae|Multiple vertebral anomalies|Abnormality of the vertebrae	http://purl.obolibrary.org/obo/HP_0003468		
HGNC:3522	biolink:NamedThing	EYA4			mondo.json		http://identifiers.org/hgnc/3522		
UBERON:0005117	biolink:AnatomicalEntity	metanephric distal convoluted tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005117		
UBERON:0007771	biolink:AnatomicalEntity	epidermis gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007771		
UBERON:0005116	biolink:AnatomicalEntity	metanephric descending thin limb			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005116		
UBERON:0007772	biolink:AnatomicalEntity	scrotal sweat			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007772		
UBERON:0005115	biolink:AnatomicalEntity	metanephric cortical collecting duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005115		
GO:0006706	biolink:NamedThing	steroid catabolic process	The chemical reactions and pathways resulting in the breakdown of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus.		mondo.json	steroid breakdown|steroid catabolism|steroid degradation	http://purl.obolibrary.org/obo/GO_0006706		
UBERON:0007773	biolink:AnatomicalEntity	scrotal sweat gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007773		
GO:0006707	biolink:NamedThing	cholesterol catabolic process	The chemical reactions and pathways resulting in the breakdown of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones.		mondo.json	cholesterol breakdown|cholesterol degradation|cholesterol catabolism	http://purl.obolibrary.org/obo/GO_0006707		
UBERON:0005113	biolink:AnatomicalEntity	metanephric cortex mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005113		
NCBITaxon:90339	biolink:OrganismalEntity	Rhinosporidium seeberi		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_90339		
NCBITaxon:90338	biolink:OrganismalEntity	Rhinosporidium		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_90338		
HGNC:3529	biolink:NamedThing	F11			mondo.json		http://identifiers.org/hgnc/3529		
NCBITaxon:7778	biolink:OrganismalEntity	Elasmobranchii		GC_ID:1	mondo.json	sharks and rays|elasmobranchs	http://purl.obolibrary.org/obo/NCBITaxon_7778		
HGNC:3528	biolink:NamedThing	F10			mondo.json		http://identifiers.org/hgnc/3528		
HGNC:3527	biolink:NamedThing	EZH2			mondo.json		http://identifiers.org/hgnc/3527		
NCBITaxon:7777	biolink:OrganismalEntity	Chondrichthyes		GC_ID:1	mondo.json	cartilaginous fishes|fish|cartilaginous fishes|fishes	http://purl.obolibrary.org/obo/NCBITaxon_7777		
NCBITaxon:7776	biolink:OrganismalEntity	Gnathostomata <vertebrates>		GC_ID:1	mondo.json	Gnathostomata|jawed vertebrates	http://purl.obolibrary.org/obo/NCBITaxon_7776		
HGNC:18647	biolink:NamedThing	RTN4IP1			mondo.json		http://identifiers.org/hgnc/18647		
HP:0003470	biolink:PhenotypicFeature	Paralysis	Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.	MSH:D010243|SNOMEDCT_US:44695005|UMLS:C0522224	mondo.json	Paralysis|Inability to move	http://purl.obolibrary.org/obo/HP_0003470		
UBERON:0005109	biolink:AnatomicalEntity	metanephric smooth muscle tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005109		
HGNC:3535	biolink:NamedThing	F2			mondo.json		http://identifiers.org/hgnc/3535		
UBERON:0005108	biolink:AnatomicalEntity	metanephric epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005108		
HGNC:3534	biolink:NamedThing	F13B			mondo.json		http://identifiers.org/hgnc/3534		
UBERON:0005106	biolink:AnatomicalEntity	metanephric tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005106		
HP:0003474	biolink:PhenotypicFeature	Somatic sensory dysfunction	An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.	SNOMEDCT_US:398026008|SNOMEDCT_US:59073000|MSH:D006987|SNOMEDCT_US:397974008|UMLS:C0020580	mondo.json	Sensory impairment	http://purl.obolibrary.org/obo/HP_0003474		
HP:0003473	biolink:PhenotypicFeature	Fatigable weakness	A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.	UMLS:C0947912	mondo.json	Myasthenia|Generalised muscle weakness due to defect at the neuromuscular junction|Fatigable weakness of limb muscles|Myasthenic weakness|Proximal muscle weakness due to defect at the neuromuscular junction|Generalized muscle weakness due to defect at the neuromuscular junction	http://purl.obolibrary.org/obo/HP_0003473		
HGNC:3531	biolink:NamedThing	F13A1			mondo.json		http://identifiers.org/hgnc/3531		
HGNC:3530	biolink:NamedThing	F12			mondo.json		http://identifiers.org/hgnc/3530		
UBERON:0005103	biolink:AnatomicalEntity	mesonephric epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005103		
UBERON:0007762	biolink:AnatomicalEntity	metatarsophalangeal joint of pedal digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007762		
HGNC:18640	biolink:NamedThing	LDLRAP1			mondo.json		http://identifiers.org/hgnc/18640		
HGNC:18618	biolink:NamedThing	LRRK2			mondo.json		http://identifiers.org/hgnc/18618		
UBERON:0032748	biolink:AnatomicalEntity	sacral spinal cord ventral horn			mondo.json		http://purl.obolibrary.org/obo/UBERON_0032748		
HGNC:3546	biolink:NamedThing	F8			mondo.json		http://identifiers.org/hgnc/3546		
HGNC:3544	biolink:NamedThing	F7			mondo.json		http://identifiers.org/hgnc/3544		
UBERON:0007750	biolink:AnatomicalEntity	metatarsophalangeal joint of pedal digit 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007750		
HGNC:3542	biolink:NamedThing	F5			mondo.json		http://identifiers.org/hgnc/3542		
NCBITaxon:1776223	biolink:OrganismalEntity	Gorgoderoidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1776223		
UBERON:0007747	biolink:AnatomicalEntity	metacarpophalangeal joint of manual digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007747		
HGNC:18625	biolink:NamedThing	FKBP14			mondo.json		http://identifiers.org/hgnc/18625		
HGNC:18626	biolink:NamedThing	IFT27			mondo.json		http://identifiers.org/hgnc/18626		
HGNC:18623	biolink:NamedThing	COG8			mondo.json		http://identifiers.org/hgnc/18623		
HGNC:18621	biolink:NamedThing	COG6			mondo.json		http://identifiers.org/hgnc/18621		
HGNC:18622	biolink:NamedThing	COG7			mondo.json		http://identifiers.org/hgnc/18622		
HGNC:3553	biolink:NamedThing	FAAH			mondo.json		http://identifiers.org/hgnc/3553		
HGNC:18620	biolink:NamedThing	COG4			mondo.json		http://identifiers.org/hgnc/18620		
HGNC:3551	biolink:NamedThing	F9			mondo.json		http://identifiers.org/hgnc/3551		
MONDO:0008519	biolink:Disease	multiple synostoses syndrome 1	Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene.	UMLS:C0342282|OMIM:186500|GARD:0003836	mondo.json	NOG multiple synostoses syndrome|nog multiple synostoses syndrome|symphalangism brachydactyly syndrome|synostoses, multiple, with brachydactyly|multiple synostoses syndrome type 1|Wl syndrome|synostoses multiple with brachydactyly|deafness-symphalangism syndrome of Herrmann|multiple synostoses syndrome 1|SYNS1|symphalangism-brachydactyly syndrome|multiple synostoses syndrome caused by mutation in NOG|multiple synostoses syndrome caused by mutation in nog|facioaudiosymphalangism syndrome	http://purl.obolibrary.org/obo/MONDO_0008519	UMLS:C0342282|https://omim.org/entry/186500	
MONDO:0008518	biolink:Disease	calcaneonavicular coalition	A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.	ICD9:755.8|GARD:0009863|MESH:C538156|SCTID:62628008|DOID:14762|UMLS:C0175700|OMIM:186400	mondo.json	multiple synostosis syndrome|synostoses, tarsal, carpal, and digital|synostoses, tarsal, carpal and digital|calcaneonavicular coalition	http://purl.obolibrary.org/obo/MONDO_0008518	UMLS:C0175700|DOID:14762|https://omim.org/entry/186400|http://identifiers.org/mesh/C538156|http://identifiers.org/snomedct/62628008	
MONDO:0008517	biolink:Disease	syndactyly-polydactyly-ear lobe syndrome		OMIM:186350|GARD:0005090|Orphanet:3259|UMLS:C1861347|MESH:C566091	mondo.json	hallux syndactyly ulnar polydactyly abnormal ear lobes|syndactyly-polydactyly-earlobe syndrome|Spel syndrome	http://purl.obolibrary.org/obo/MONDO_0008517	https://omim.org/entry/186350|Orphanet:3259|http://identifiers.org/mesh/C566091|UMLS:C1861347	ordo_malformation_syndrome
MONDO:0008516	biolink:Disease	syndactyly type 5	Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.	SCTID:719159004|Orphanet:93406|MESH:C538155|GARD:0005089|OMIM:186300	mondo.json	SDTY5|SD5|syndactyly with associated metacarpal and metatarsal fusion|syndactyly, type V|syndactyly, type 5|syndactyly with metacarpal and metatarsal fusion|postaxial syndactyly with metacarpal synostosis	http://purl.obolibrary.org/obo/MONDO_0008516	https://omim.org/entry/186300|http://identifiers.org/snomedct/719159004|Orphanet:93406|http://identifiers.org/mesh/C538155	gard_rare|ordo_morphological_anomaly
MONDO:0008515	biolink:Disease	syndactyly type 4	A very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5).	UMLS:C1861355|GARD:0004434|Orphanet:93405|OMIM:186200|MESH:C566092|SCTID:719158007	mondo.json	LMBR1 non-syndromic syndactyly|syndactyly, type IV|non-syndromic syndactyly caused by mutation in LMBR1|SDTY4|polysyndactyly, Haas type|polysyndactyly type Haas|Sd4|syndactyly, type 4|Haas type syndactyly	http://purl.obolibrary.org/obo/MONDO_0008515	https://omim.org/entry/186200|http://identifiers.org/snomedct/719158007|Orphanet:93405|http://identifiers.org/mesh/C566092|UMLS:C1861355	ordo_morphological_anomaly|gard_rare
MONDO:0008514	biolink:Disease	syndactyly type 3	Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.	Orphanet:93404|MESH:C538154|GARD:0005088|OMIM:186100|UMLS:C1861366|SCTID:715725001	mondo.json	Sdty3|GJA1 non-syndromic syndactyly|syndactyly of fingers 4 and 5|syndactyly, type III|non-syndromic syndactyly caused by mutation in GJA1|Ring and Little finger syndactyly|SD3|syndactyly of fingers four and five|syndactyly, type 3|syndactyly of the ring and little finger	http://purl.obolibrary.org/obo/MONDO_0008514	http://identifiers.org/snomedct/715725001|https://omim.org/entry/186100|Orphanet:93404|http://identifiers.org/mesh/C538154|UMLS:C1861366	gard_rare|ordo_morphological_anomaly
MONDO:0008513	biolink:Disease	synpolydactyly type 1	Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene.	UMLS:CN203278|OMIM:186000|Orphanet:295195	mondo.json	HOXD13 non-syndromic synpolydactyly|SPD, Vordingborg type|synpolydactyly, Vordingborg type|non-syndromic synpolydactyly caused by mutation in HOXD13|SD2, Vordingborg type|syndactyly, type 2|synpolydactyly type 1|synpolydactyly 1|SPD1|synpolydactyly with foot anomalies|SD2a	http://purl.obolibrary.org/obo/MONDO_0008513	Orphanet:295195|https://omim.org/entry/186000|UMLS:CN203278	ordo_clinical_subtype
MONDO:0008512	biolink:Disease	syndactyly type 1	Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes.	OMIM:185900|Orphanet:1527|SCTID:715723008|UMLS:C4275033|UMLS:C1861380|Orphanet:93402|GARD:0005081	mondo.json	Zygodactyly|Sd1|syndactyly, type 1|SDTY1|chromosome 2q35 DUPLICATION syndrome|craniosynostosis, Philadelphia type|syndactyly, type 1, with or without craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0008512	http://identifiers.org/snomedct/715723008|Orphanet:93402|https://omim.org/entry/185900|UMLS:C1861380	ordo_morphological_anomaly
MONDO:0008511	biolink:Disease	proximal symphalangism	Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.	KEGG:H00484|OMIMPS:185800|MESH:C536223|HP:0100264|UMLS:C1861385|Orphanet:3250|DOID:0050788|GARD:0008182	mondo.json	symphalangism, Cushing type|Strasburger-Hawkins-Eldridge syndrome|vessel’s syndrome|Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome|hereditary absence of the proximal interphalangeal joints|proximal symphalangism|proximal symphalangism (disease)|Cushing's symphalangism|hereditary absence of proximal interphalangeal joints	http://purl.obolibrary.org/obo/MONDO_0008511	DOID:0050788|https://omim.org/phenotypicSeries/PS185800|Orphanet:3250|UMLS:C1861385|http://identifiers.org/mesh/C536223	ordo_malformation_syndrome|prototype_pattern
CHEBI:32504	biolink:ChemicalSubstance	phenylalaninate	An aromatic amino-acid anion that is the conjugate base of phenylalanine, arising from deprotonation of the carboxy group.		mondo.json	phenylalaninate|phenylalanine anion|2-amino-3-phenylpropanoate	http://purl.obolibrary.org/obo/CHEBI_32504		
MONDO:0008510	biolink:Disease	symphalangism with multiple anomalies of hands and feet	Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981.	SCTID:732955001|MESH:C566098|GARD:0005077|OMIM:185750|Orphanet:3246|UMLS:C1861391	mondo.json	symphalangism with multiple anomalies of hands and feet|Learman syndrome	http://purl.obolibrary.org/obo/MONDO_0008510	https://omim.org/entry/185750|Orphanet:3246|UMLS:C1861391|http://identifiers.org/mesh/C566098|http://identifiers.org/snomedct/732955001	ordo_malformation_syndrome|gard_rare
CHEBI:32505	biolink:ChemicalSubstance	phenylalaninium	An alpha-amino-acid cation that is the conjugate acid of phenylalanine, arising from protonation of the amino group.		mondo.json	phenylalaninium|1-carboxy-2-phenylethanaminium|phenylalanine cation	http://purl.obolibrary.org/obo/CHEBI_32505		
UBERON:0005156	biolink:AnatomicalEntity	reproductive structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005156		
UBERON:0005154	biolink:AnatomicalEntity	epithelial cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005154		
UBERON:0005153	biolink:AnatomicalEntity	epithelial bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005153		
UBERON:0005151	biolink:AnatomicalEntity	metanephric proximal tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005151		
CHR:9606-chr2q2	biolink:NamedThing	2q2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr2q2		
CHR:9606-chr2q3	biolink:NamedThing	2q3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr2q3		
NCBITaxon:5152	biolink:OrganismalEntity	Ophiostomataceae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5152		
UBERON:0005158	biolink:AnatomicalEntity	parenchyma of central nervous system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005158		
NCBITaxon:5151	biolink:OrganismalEntity	Ophiostomatales		GC_ID:1	mondo.json	Pyrenomycetes	http://purl.obolibrary.org/obo/NCBITaxon_5151		
UBERON:0005157	biolink:AnatomicalEntity	epithelial fold			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005157		
MONDO:0008529	biolink:Disease	T-cell Subgroups, non-HLA-linked		OMIM:186950	mondo.json	T-cell Subgroups, non-HLA-linked	http://purl.obolibrary.org/obo/MONDO_0008529	https://omim.org/entry/186950	
MONDO:0008528	biolink:Disease	tear protein, anodal		UMLS:C1861283|OMIM:186890	mondo.json	tear protein, anodal	http://purl.obolibrary.org/obo/MONDO_0008528	https://omim.org/entry/186890|UMLS:C1861283	
MONDO:0008527	biolink:Disease	tarsal coalition		ICD9:755.67|OMIM:186850|SCTID:27173008|MESH:D000070604	mondo.json	tarsal fusion|tarsal coalition	http://purl.obolibrary.org/obo/MONDO_0008527	http://identifiers.org/snomedct/27173008|http://identifiers.org/mesh/D000070604|https://omim.org/entry/186850	
MONDO:0008526	biolink:Disease	talonavicular coalition		MESH:C536895|GARD:0010062|OMIM:186750	mondo.json	talonavicular coalition	http://purl.obolibrary.org/obo/MONDO_0008526	http://identifiers.org/mesh/C536895|https://omim.org/entry/186750	gard_rare
MONDO:0008525	biolink:Disease	syringomyelia, isolated		OMIM:186700|MESH:C566084	mondo.json	syringomyelia, noncommunicating isolated|syringomyelia, isolated	http://purl.obolibrary.org/obo/MONDO_0008525	https://omim.org/entry/186700|http://identifiers.org/mesh/C566084	
MONDO:0008524	biolink:Disease	syringomas, multiple		OMIM:186600|MESH:C566085|UMLS:C1861302	mondo.json	syringomas, multiple	http://purl.obolibrary.org/obo/MONDO_0008524	https://omim.org/entry/186600|UMLS:C1861302|http://identifiers.org/mesh/C566085	
MONDO:0008523	biolink:Disease	Blau syndrome	Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.	UMLS:C1836122|MedDRA:10071755|MESH:C538157|SCTID:699861000|Orphanet:90340|NCIT:C116794|ICD9:714.89|OMIM:186580|OMIM:609464|Orphanet:90341|ICD9:692.9|GARD:0000304|DOID:0050678|UMLS:C1861303	mondo.json	EOS|Blau syndrome|granulomatosis, familial juvenile systemic|synovitis, granulomatous, with uveitis and cranial neuropathies|Jabs syndrome|arthrocutaneouveal granulomatosis|granulomatosis, familial, Blau type|sarcoidosis, early-onset|ACUG|BLAUS|granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|pediatric granulomatous arthritis|synovitis granulomatous with uveitis and cranial neuropathies|early-onset sarcoidosis	http://purl.obolibrary.org/obo/MONDO_0008523	UMLS:C1836122|https://omim.org/entry/186580|https://omim.org/entry/609464|http://identifiers.org/mesh/C538157|UMLS:C1861303|Orphanet:90340|Orphanet:90341|http://identifiers.org/snomedct/699861000|NCIT:C116794|DOID:0050678	gard_rare|ordo_disease
MONDO:0008522	biolink:Disease	synovial chondromatosis, familial, with dwarfism		GARD:0007720|MESH:C566087|UMLS:C1861304|OMIM:186575	mondo.json	synovial chondromatosis, familial with dwarfism|synovial chondromatosis, familial, with dwarfism	http://purl.obolibrary.org/obo/MONDO_0008522	https://omim.org/entry/186575|http://identifiers.org/mesh/C566087|UMLS:C1861304	gard_rare
MONDO:0008521	biolink:Disease	tarsal-carpal coalition syndrome	Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges.	UMLS:C1861305|Orphanet:1412|GARD:0009225|OMIM:186570|DOID:0050789|EFO:0008965|ICD9:756.9|SCTID:702312009	mondo.json	TCC|tarsal carpal coalition syndrome|synostosis of talus and calcaneus with short stature|tarsal-carpal coalition syndrome	http://purl.obolibrary.org/obo/MONDO_0008521	https://omim.org/entry/186570|UMLS:C1861305|Orphanet:1412|http://identifiers.org/snomedct/702312009|DOID:0050789	ordo_malformation_syndrome|gard_rare
MONDO:0008520	biolink:Disease	brachydactyly-elbow wrist dysplasia syndrome	Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.	OMIM:186550|UMLS:C1861313|GARD:0000966|SCTID:764437006|MESH:C566090|Orphanet:1275	mondo.json	brachydactyly-joint dysplasia syndrome|LIEBENBERG syndrome|carpal synostosis with dysplastic elbow joints and brachydactyly|LBNBG|Liebenberg syndrome|brachydactyly with Joint dysplasia|brachydactyly with joint dysplasia|synostosis, carpal, with dysplastic elbow joints and brachydactyly|brachydactyly elbow wrist dysplasia	http://purl.obolibrary.org/obo/MONDO_0008520	http://identifiers.org/snomedct/764437006|https://omim.org/entry/186550|http://identifiers.org/mesh/C566090|UMLS:C1861313|Orphanet:1275	gard_rare|ordo_malformation_syndrome
UBERON:0005145	biolink:AnatomicalEntity	metanephric comma-shaped body			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005145		
HGNC:3571	biolink:NamedThing	ACSL4			mondo.json		http://identifiers.org/hgnc/3571		
UBERON:0005144	biolink:AnatomicalEntity	metanephric glomerular capillary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005144		
HGNC:18603	biolink:NamedThing	COL25A1			mondo.json		http://identifiers.org/hgnc/18603		
HGNC:18601	biolink:NamedThing	RTN4R			mondo.json		http://identifiers.org/hgnc/18601		
HGNC:3579	biolink:NamedThing	FAH			mondo.json		http://identifiers.org/hgnc/3579		
UBERON:0005148	biolink:AnatomicalEntity	metanephric S-shaped body			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005148		
UBERON:0005147	biolink:AnatomicalEntity	metanephric renal vesicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005147		
HGNC:3573	biolink:NamedThing	FADD			mondo.json		http://identifiers.org/hgnc/3573		
UBERON:0005146	biolink:AnatomicalEntity	metanephric nephron tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005146		
NCBITaxon:5125	biolink:OrganismalEntity	Hypocreales		GC_ID:1	mondo.json	Pyrenomycetes	http://purl.obolibrary.org/obo/NCBITaxon_5125		
HGNC:3583	biolink:NamedThing	FANCB			mondo.json		http://identifiers.org/hgnc/3583		
UBERON:0005134	biolink:AnatomicalEntity	metanephric nephron epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005134		
HGNC:3582	biolink:NamedThing	FANCA			mondo.json		http://identifiers.org/hgnc/3582		
UBERON:0007798	biolink:AnatomicalEntity	vascular system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007798		
UBERON:0005133	biolink:AnatomicalEntity	metanephric glomerulus vasculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005133		
HGNC:3581	biolink:NamedThing	BPTF			mondo.json		http://identifiers.org/hgnc/3581		
UBERON:0005130	biolink:AnatomicalEntity	metanephric loop of Henle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005130		
HGNC:3588	biolink:NamedThing	FANCG			mondo.json		http://identifiers.org/hgnc/3588		
HGNC:3587	biolink:NamedThing	FANCF			mondo.json		http://identifiers.org/hgnc/3587		
HGNC:3586	biolink:NamedThing	FANCE			mondo.json		http://identifiers.org/hgnc/3586		
UBERON:0005137	biolink:AnatomicalEntity	metanephric capsule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005137		
UBERON:0007794	biolink:AnatomicalEntity	secretion of serous gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007794		
HGNC:3585	biolink:NamedThing	FANCD2			mondo.json		http://identifiers.org/hgnc/3585		
UBERON:0005136	biolink:AnatomicalEntity	metanephric glomerular endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005136		
HGNC:3584	biolink:NamedThing	FANCC			mondo.json		http://identifiers.org/hgnc/3584		
NCIT:C35461	biolink:NamedThing	Clinical Course of Disease			mondo.json		http://purl.obolibrary.org/obo/NCIT_C35461		http://purl.obolibrary.org/obo/NCIT_C61410|http://purl.obolibrary.org/obo/NCIT_C124302|http://purl.obolibrary.org/obo/NCIT_C124303|http://purl.obolibrary.org/obo/NCIT_C66830
UBERON:0005135	biolink:AnatomicalEntity	metanephric glomerular epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005135		
MONDO:0008509	biolink:Disease	distal symphalangism	Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet.	Orphanet:3248|UMLS:C1861401|OMIM:185700|MESH:C566099|HP:0100263	mondo.json	symphalangism, distal|distal symphalangism|distal symphalangism (disease)|Sym2	http://purl.obolibrary.org/obo/MONDO_0008509	http://identifiers.org/mesh/C566099|UMLS:C1861401|https://omim.org/entry/185700|Orphanet:3248	ordo_morphological_anomaly
MONDO:0008508	biolink:Disease	symphalangism, C. S. Lewis type		MESH:C566100|UMLS:C1861404|OMIM:185650	mondo.json	symphalangism, C. S. Lewis type|thumbs, stiff	http://purl.obolibrary.org/obo/MONDO_0008508	http://identifiers.org/mesh/C566100|UMLS:C1861404|https://omim.org/entry/185650	n_of_one
MONDO:0008507	biolink:Disease	surface polypeptides, anonymous		OMIM:185610	mondo.json	Spa5|Spa2|surface polypeptides, anonymous	http://purl.obolibrary.org/obo/MONDO_0008507	https://omim.org/entry/185610	
MONDO:0008506	biolink:Disease	symphalangism of toes		MESH:C566101|OMIM:185600|UMLS:C1861418	mondo.json	symphalangism of toes	http://purl.obolibrary.org/obo/MONDO_0008506	http://identifiers.org/mesh/C566101|UMLS:C1861418|https://omim.org/entry/185600	
MONDO:0008505	biolink:Disease	surface antigen, glycoprotein 75		OMIM:185540	mondo.json	surface antigen, glycoprotein type 75|surface glycoprotein 75|surface antigen, glycoprotein 75	http://purl.obolibrary.org/obo/MONDO_0008505	https://omim.org/entry/185540	
MONDO:0008504	biolink:Disease	supravalvular aortic stenosis	SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis.	GARD:0000743|HP:0004381|DOID:1929|SCTID:268185002|OMIM:185500|Orphanet:3193|UMLS:C0003499|MedDRA:10042598	mondo.json	SVAS|supravalvular aortic stenosis (disease)|supravalvar aortic stenosis, Eisenberg type|supra-valvular aortic stenosis|supravalvular aortic stenosis|supravalvar aortic stenosis|aortic supravalvular stenosis	http://purl.obolibrary.org/obo/MONDO_0008504	http://identifiers.org/snomedct/268185002|https://omim.org/entry/185500|DOID:1929|Orphanet:3193|UMLS:C0003499	ordo_morphological_anomaly
MONDO:0008503	biolink:Disease	Worster-Drought syndrome	Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking.	OMIM:185480|GARD:0005598|SCTID:716335003|UMLS:C0796204|Orphanet:3465|MESH:C536747	mondo.json	suprabulbar paresis congenital|suprabulbar paresis, congenital|Worster Drought syndrome|Worster-Drought syndrome|congenital suprabulbar paresis	http://purl.obolibrary.org/obo/MONDO_0008503	http://identifiers.org/mesh/C536747|https://omim.org/entry/185480|UMLS:C0796204|Orphanet:3465|http://identifiers.org/snomedct/716335003	ordo_malformation_syndrome|gard_rare
MONDO:0008502	biolink:Disease	sulfhemoglobinemia, congenital		MESH:C566102|UMLS:C1861437|OMIM:185460	mondo.json	sulfhemoglobinemia, congenital	http://purl.obolibrary.org/obo/MONDO_0008502	https://omim.org/entry/185460|http://identifiers.org/mesh/C566102|UMLS:C1861437	
MONDO:0008501	biolink:Disease	Sturge-Weber syndrome	Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.	MedDRA:10042265|MESH:D013341|MedDRA:10057653|ICD9:759.6|SCTID:19886006|UMLS:CN204001|NCIT:C3391|UMLS:C0038505|DOID:0111563|OMIM:185300|Orphanet:3205|GARD:0007706	mondo.json	Sturge-Weber syndrome|Sturge-Weber-Dimitri syndrome|meningeal capillary angiomatosis|Encephalotrigeminal syndrome|Sturge-Weber disease|Sturge-Weber syndrome, somatic, mosaic|Encephalofacial angiomatosis|SWS type III - isolated leptomeningeal angiomas|Sturge Weber syndrome|SWS|SWS type II - Facial angioma alone, no CNS involvement|fourth phacomatosis|Encephalotrigeminal angiomatosis|SWS type I - Facial and leptomeningeal angiomas|Sturge-Weber-Krabbe syndrome|Sturge-Weber-Krabbe angiomatosis|leptomeningeal angiomatosis|STURGE-WEBER syndrome	http://purl.obolibrary.org/obo/MONDO_0008501	UMLS:C0038505|DOID:0111563|UMLS:CN204001|https://omim.org/entry/185300|NCIT:C3391|Orphanet:3205|http://identifiers.org/snomedct/19886006|http://identifiers.org/mesh/D013341	gard_rare|ordo_malformation_syndrome
MONDO:0008500	biolink:Disease	striae distensae, familial		MESH:C566104|UMLS:C1861447|OMIM:185200	mondo.json	striae distensae, familial	http://purl.obolibrary.org/obo/MONDO_0008500	https://omim.org/entry/185200|http://identifiers.org/mesh/C566104|UMLS:C1861447	
HP:0003498	biolink:PhenotypicFeature	Disproportionate short stature	A kind of short stature in which different regions of the body are shortened to differing extents.	UMLS:C0878659|UMLS:C1846797	mondo.json	Short stature, disproportionate|Short stature, severe disproportionate	http://purl.obolibrary.org/obo/HP_0003498		
CHR:9606-chr2p1	biolink:NamedThing	2p1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr2p1		
CHR:9606-chr2p2	biolink:NamedThing	2p2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr2p2		
UBERON:0005129	biolink:AnatomicalEntity	metanephric distal tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005129		
HP:0003496	biolink:PhenotypicFeature	Increased circulating IgM level	An abnormally increased level of immunoglobulin M in blood.	UMLS:C1839972	mondo.json	Increased IgM levels|Increased levels of IgM	http://purl.obolibrary.org/obo/HP_0003496		
UBERON:0005125	biolink:AnatomicalEntity	metanephric proximal straight tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005125		
UBERON:0005124	biolink:AnatomicalEntity	metanephric proximal convoluted tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005124		
GO:0016108	biolink:NamedThing	tetraterpenoid metabolic process	The chemical reactions and pathways involving tetraterpenoid compounds, terpenoids with eight isoprene units.		mondo.json	tetraterpene metabolic process|tetraterpene metabolism|tetraterpenoid metabolism	http://purl.obolibrary.org/obo/GO_0016108		
GO:0016101	biolink:NamedThing	diterpenoid metabolic process	The chemical reactions and pathways involving diterpenoid compounds, terpenoids with four isoprene units.		mondo.json	diterpene metabolic process|diterpenoid metabolism|diterpene metabolism	http://purl.obolibrary.org/obo/GO_0016101		
GO:0006796	biolink:NamedThing	phosphate-containing compound metabolic process	The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid.		mondo.json	phosphate metabolic process|phosphate metabolism	http://purl.obolibrary.org/obo/GO_0006796		
GO:0006793	biolink:NamedThing	phosphorus metabolic process	The chemical reactions and pathways involving the nonmetallic element phosphorus or compounds that contain phosphorus, usually in the form of a phosphate group (PO4).		mondo.json	phosphorus metabolism	http://purl.obolibrary.org/obo/GO_0006793		
GO:0006790	biolink:NamedThing	sulfur compound metabolic process	The chemical reactions and pathways involving the nonmetallic element sulfur or compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione.		mondo.json	sulphur metabolism|sulphur metabolic process|sulfur metabolism	http://purl.obolibrary.org/obo/GO_0006790		
GO:0016116	biolink:NamedThing	carotenoid metabolic process	The chemical reactions and pathways involving carotenoids, tetraterpenoid compounds in which two units of 4 isoprenoid residues joined head-to-tail are themselves joined tail-to-tail.		mondo.json	carotenoid metabolism	http://purl.obolibrary.org/obo/GO_0016116		
CHEBI:173085	biolink:ChemicalSubstance	ferroptosis inducer	Any substance that induces or promotes ferroptosis (a type of programmed cell death dependent on iron and characterized by the accumulation of lipid peroxides) in organisms.		mondo.json	ferroptosis inducers	http://purl.obolibrary.org/obo/CHEBI_173085		
GO:0006768	biolink:NamedThing	biotin metabolic process	The chemical reactions and pathways involving biotin, cis-tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid; the (+) enantiomer is very widely distributed in cells and serves as a carrier in a number of enzymatic beta-carboxylation reactions.		mondo.json	vitamin H metabolism|vitamin H metabolic process|biotin metabolism|vitamin B7 metabolic process|vitamin B7 metabolism	http://purl.obolibrary.org/obo/GO_0006768		
GO:0006766	biolink:NamedThing	vitamin metabolic process	The chemical reactions and pathways involving vitamins. Vitamin is a general term for a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. Vitamins may be water-soluble or fat-soluble and usually serve as components of coenzyme systems.		mondo.json	vitamin metabolism	http://purl.obolibrary.org/obo/GO_0006766		
GO:0006767	biolink:NamedThing	water-soluble vitamin metabolic process	The chemical reactions and pathways involving any of a diverse group of vitamins that are soluble in water.		mondo.json	water-soluble vitamin metabolism	http://purl.obolibrary.org/obo/GO_0006767		
GO:0006760	biolink:NamedThing	folic acid-containing compound metabolic process	The chemical reactions and pathways involving a folic acid-containing compound, i.e. any of a group of heterocyclic compounds based on the pteroic acid skeleton conjugated with one or more L-glutamic acid or L-glutamate units.		mondo.json	folate-containing compound metabolic process|vitamin B9 and derivative metabolism|vitamin B9 and derivative metabolic process|folate-containing compound metabolism|folic acid-containing compound metabolism|folic acid and derivative metabolism|folate and derivative metabolism|vitamin M and derivative metabolism|folate and derivative metabolic process|vitamin M and derivative metabolic process|folic acid and derivative metabolic process	http://purl.obolibrary.org/obo/GO_0006760		
GO:0090022	biolink:NamedThing	regulation of neutrophil chemotaxis	Any process that modulates the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding.		mondo.json		http://purl.obolibrary.org/obo/GO_0090022		
GO:0090023	biolink:NamedThing	positive regulation of neutrophil chemotaxis	Any process that increases the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding.		mondo.json		http://purl.obolibrary.org/obo/GO_0090023		
GO:0090024	biolink:NamedThing	negative regulation of neutrophil chemotaxis	Any process that decreases the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding.		mondo.json		http://purl.obolibrary.org/obo/GO_0090024		
GO:0006778	biolink:NamedThing	porphyrin-containing compound metabolic process	The chemical reactions and pathways involving any member of a large group of derivatives or analogs of porphyrin. Porphyrins consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group.		mondo.json	porphyrin metabolism|porphyrin metabolic process	http://purl.obolibrary.org/obo/GO_0006778		
GO:0090030	biolink:NamedThing	regulation of steroid hormone biosynthetic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroid hormones,compounds with a 1, 2, cyclopentanoperhydrophenanthrene nucleus that act as hormones.		mondo.json		http://purl.obolibrary.org/obo/GO_0090030		
GO:0006775	biolink:NamedThing	fat-soluble vitamin metabolic process	The chemical reactions and pathways involving of any of a diverse group of vitamins that are soluble in organic solvents and relatively insoluble in water.		mondo.json	fat-soluble vitamin metabolism	http://purl.obolibrary.org/obo/GO_0006775		
GO:0006776	biolink:NamedThing	vitamin A metabolic process	The chemical reactions and pathways involving any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid, all of which are derivatives of beta-carotene.		mondo.json	vitamin A metabolism	http://purl.obolibrary.org/obo/GO_0006776		
GO:0090031	biolink:NamedThing	positive regulation of steroid hormone biosynthetic process	Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroid hormones,compounds with a 1, 2, cyclopentanoperhydrophenanthrene nucleus that act as hormones.		mondo.json		http://purl.obolibrary.org/obo/GO_0090031		
GO:0090032	biolink:NamedThing	negative regulation of steroid hormone biosynthetic process	Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroid hormones,compounds with a 1, 2, cyclopentanoperhydrophenanthrene nucleus that act as hormones.		mondo.json		http://purl.obolibrary.org/obo/GO_0090032		
GO:0006749	biolink:NamedThing	glutathione metabolic process	The chemical reactions and pathways involving glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins; it has a specific role in the reduction of hydrogen peroxide (H2O2) and oxidized ascorbate, and it participates in the gamma-glutamyl cycle.		mondo.json	glutathione metabolism|oxidized glutathione reduction	http://purl.obolibrary.org/obo/GO_0006749		
GO:0006744	biolink:NamedThing	ubiquinone biosynthetic process	The chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme.		mondo.json	coenzyme Q8 biosynthetic process|coenzyme Q8 biosynthesis|coenzyme Q9 biosynthetic process|coenzyme Q10 biosynthesis|ubiquinone synthesis|coenzyme Q9 biosynthesis|coenzyme Q10 biosynthetic process|ubiquinone formation|coenzyme Q biosynthetic process|coenzyme Q biosynthesis|ubiquinone biosynthesis|ubiquinone anabolism|coenzyme Q6 biosynthesis|coenzyme Q6 biosynthetic process	http://purl.obolibrary.org/obo/GO_0006744		
GO:0006743	biolink:NamedThing	ubiquinone metabolic process	The chemical reactions and pathways involving ubiquinone, a lipid-soluble electron-transporting coenzyme.		mondo.json	coenzyme Q metabolic process|coenzyme Q metabolism|ubiquinone metabolism	http://purl.obolibrary.org/obo/GO_0006743		
UBERON:0007728	biolink:AnatomicalEntity	interphalangeal joint of pedal digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007728		
HP:0003429	biolink:PhenotypicFeature	CNS hypomyelination	Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.	UMLS:C0544820|UMLS:C4025616|SNOMEDCT_US:111007000	mondo.json		http://purl.obolibrary.org/obo/HP_0003429		
UBERON:0007732	biolink:AnatomicalEntity	interphalangeal joint of manual digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007732		
UBERON:0007735	biolink:AnatomicalEntity	metacarpophalangeal joint of manual digit 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007735		
FOODON:00002645	biolink:NamedThing	food product by process	A food product organized by the process which it results from.		mondo.json		http://purl.obolibrary.org/obo/FOODON_00002645		
GO:0090087	biolink:NamedThing	regulation of peptide transport	Any process that modulates the frequency, rate or extent of the directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0090087		
GO:0006757	biolink:NamedThing	ATP generation from ADP	The process of introducing a phosphate group into ADP, adenosine diphosphate, to produce ATP.		mondo.json	ADP phosphorylation	http://purl.obolibrary.org/obo/GO_0006757		
GO:0006753	biolink:NamedThing	nucleoside phosphate metabolic process	The chemical reactions and pathways involving any phosphorylated nucleoside.		mondo.json	nucleoside phosphate metabolism	http://purl.obolibrary.org/obo/GO_0006753		
GO:0006754	biolink:NamedThing	ATP biosynthetic process	The chemical reactions and pathways resulting in the formation of ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.		mondo.json	ATP anabolism|ATP regeneration|ATP synthesis|ATP biosynthesis|ATP formation	http://purl.obolibrary.org/obo/GO_0006754		
UBERON:0007719	biolink:AnatomicalEntity	bone of reproductive organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007719		
GO:0006750	biolink:NamedThing	glutathione biosynthetic process	The chemical reactions and pathways resulting in the formation of glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins.		mondo.json	glutathione synthesis|glutathione formation|glutathione biosynthesis|glutathione anabolism	http://purl.obolibrary.org/obo/GO_0006750		
CHEBI:32594	biolink:ChemicalSubstance	barium atom			mondo.json	barium|56Ba|Ba|baryum|barium|Barium|bario	http://purl.obolibrary.org/obo/CHEBI_32594		
UBERON:0007721	biolink:AnatomicalEntity	interphalangeal joint of pes			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007721		
UBERON:0007722	biolink:AnatomicalEntity	interphalangeal joint of manus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007722		
UBERON:0007723	biolink:AnatomicalEntity	interphalangeal joint of manual digit 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007723		
FOODON:00002655	biolink:NamedThing	food (peeled)			mondo.json	peeled	http://purl.obolibrary.org/obo/FOODON_00002655		
UBERON:0007724	biolink:AnatomicalEntity	interphalangeal joint of pedal digit 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007724		
GO:0006725	biolink:NamedThing	cellular aromatic compound metabolic process	The chemical reactions and pathways involving aromatic compounds, any organic compound characterized by one or more planar rings, each of which contains conjugated double bonds and delocalized pi electrons, as carried out by individual cells.		mondo.json	aromatic compound metabolism|aromatic hydrocarbon metabolism|aromatic hydrocarbon metabolic process	http://purl.obolibrary.org/obo/GO_0006725		
GO:0006720	biolink:NamedThing	isoprenoid metabolic process	The chemical reactions and pathways involving isoprenoid compounds, isoprene (2-methylbuta-1,3-diene) or compounds containing or derived from linked isoprene (3-methyl-2-butenylene) residues.		mondo.json	polyterpene metabolic process|polyisoprenoid metabolism|isoprenoid metabolism|polyisoprenoid metabolic process|polyterpene metabolism	http://purl.obolibrary.org/obo/GO_0006720		
GO:0006721	biolink:NamedThing	terpenoid metabolic process	The chemical reactions and pathways involving terpenoids, any member of a class of compounds characterized by an isoprenoid chemical structure and including derivatives with various functional groups.		mondo.json	terpenoid metabolism	http://purl.obolibrary.org/obo/GO_0006721		
HP:0003401	biolink:PhenotypicFeature	Paresthesia	Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.	UMLS:C0030554|SNOMEDCT_US:91019004|MSH:D010292	mondo.json	Pins and needles feeling|Tingling|Paresthesias	http://purl.obolibrary.org/obo/HP_0003401		
GO:0090066	biolink:NamedThing	regulation of anatomical structure size	Any process that modulates the size of an anatomical structure.		mondo.json		http://purl.obolibrary.org/obo/GO_0090066		
GO:0090068	biolink:NamedThing	positive regulation of cell cycle process	Any process that increases the rate, frequency or extent of a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events.		mondo.json		http://purl.obolibrary.org/obo/GO_0090068		
HGNC:3508	biolink:NamedThing	EWSR1			mondo.json		http://identifiers.org/hgnc/3508		
GO:0006733	biolink:NamedThing	obsolete oxidoreduction coenzyme metabolic process	OBSOLETE. The chemical reactions and pathways involving coenzymes that are required, in addition to an enzyme and a substrate, for an oxidoreductase reaction to proceed.		mondo.json	oxidoreduction coenzyme metabolism	http://purl.obolibrary.org/obo/GO_0006733		
GO:0006732	biolink:NamedThing	obsolete coenzyme metabolic process	OBSOLETE. The chemical reactions and pathways involving coenzymes, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed.		mondo.json	group transfer coenzyme metabolic process|coenzyme and prosthetic group metabolic process|coenzyme and prosthetic group metabolism|group transfer coenzyme metabolism|coenzyme metabolism	http://purl.obolibrary.org/obo/GO_0006732		
HP:0003418	biolink:PhenotypicFeature	Back pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.	UMLS:C0004604|SNOMEDCT_US:161891005|MSH:D001416	mondo.json	Back pain	http://purl.obolibrary.org/obo/HP_0003418		
UBERON:0007702	biolink:AnatomicalEntity	tract of brain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007702		
HGNC:3513	biolink:NamedThing	EXT2			mondo.json		http://identifiers.org/hgnc/3513		
HGNC:3512	biolink:NamedThing	EXT1			mondo.json		http://identifiers.org/hgnc/3512		
MONDO:0021373	biolink:Disease	neoplasm of parietal lobe	A neoplasm (disease) that involves the parietal lobe.	NCIT:C5573|SCTID:126956001|UMLS:C1263888	mondo.json	tumor of parietal lobe|parietal lobe neoplasm (disease)|tumor of the parietal lobe|parietal lobe tumor|neoplasm of parietal lobe|parietal lobe neoplasm|neoplasm of the parietal lobe	http://purl.obolibrary.org/obo/MONDO_0021373	UMLS:C1263888|http://identifiers.org/snomedct/126956001|NCIT:C5573	
MONDO:0021374	biolink:Disease	neoplasm of cerebral hemisphere	A neoplasm involving a cerebral hemisphere.	SCTID:126953009|NCIT:C4874	mondo.json	cerebral hemisphere neoplasm|tumor of cerebral hemisphere|cerebral hemispheric tumor|cerebral neoplasm|tumor of cerebrum|tumor of cerebral hemispheres|tumor of the cerebrum|tumor of the cerebral hemispheres|neoplasm of telencephalon|telencephalon tumor|telencephalon neoplasm (disease)|neoplasm of cerebral hemisphere|cerebral hemisphere tumor|cerebral tumor|cerebral hemispheric neoplasm|neoplasm of cerebrum|neoplasm of cerebral hemispheres|neoplasm of the cerebral hemispheres|cerebral neoplasms|neoplasm of the cerebrum|tumor of telencephalon	http://purl.obolibrary.org/obo/MONDO_0021374	NCIT:C4874|http://identifiers.org/snomedct/126953009	
MONDO:0021375	biolink:Disease	tumor of duodenum	A neoplasm (disease) that involves the duodenum.	NCIT:C2995|SCTID:126833009	mondo.json	tumor of duodenum|duodenum neoplasm|duodenal tumor|neoplasm of the duodenum|duodenum neoplasm (disease)|neoplasm of duodenum|duodenum tumor|tumor of the duodenum|duodenal neoplasm	http://purl.obolibrary.org/obo/MONDO_0021375	NCIT:C2995|http://identifiers.org/snomedct/126833009	
MONDO:0021376	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0021376		
MONDO:0021377	biolink:Disease	hypertrophic lichen planus	A form of lichen planus that is characterized by plaques of markedly thickened skin that is often extremely pruritic and localized to the lower legs. It can result in permanent pigmentation and scarring.	UMLS:C0023649|SCTID:68266006|NCIT:C34779	mondo.json	Hypertrophic Lichen Planus|Hypertrophic lichen planus|hypertrophic lichen planus|lichen planus hypertrophicus|Lichen planus hypertrophicus	http://purl.obolibrary.org/obo/MONDO_0021377	NCIT:C34779|http://identifiers.org/snomedct/68266006|UMLS:C0023649	
MONDO:0021378	biolink:Disease	neoplasm of endocardium	A neoplasm (disease) that involves the endocardium.	NCIT:C5346|SCTID:126731002|ICD9:239.89|UMLS:C1290401	mondo.json	endocardium neoplasm (disease)|endocardial neoplasm|tumor of the endocardium|neoplasm of endocardium|endocardium tumor|endocardium neoplasm|endocardial tumor|tumor of endocardium|neoplasm of the endocardium	http://purl.obolibrary.org/obo/MONDO_0021378	NCIT:C5346|UMLS:C1290401|http://identifiers.org/snomedct/126731002	
MONDO:0021379	biolink:Disease	neoplasm of epicardium	A neoplasm (disease) that involves the epicardium.	NCIT:C5347|SCTID:126733004|ICD9:239.89|UMLS:C1290403	mondo.json	epicardium tumor|tumor of the epicardium|epicardium neoplasm (disease)|tumor of epicardium|epicardial tumor|neoplasm of the epicardium|epicardial neoplasm|neoplasm of epicardium|epicardium neoplasm	http://purl.obolibrary.org/obo/MONDO_0021379	http://identifiers.org/snomedct/126733004|NCIT:C5347|UMLS:C1290403	
MONDO:0008399	biolink:Disease	sarcoidosis, susceptibility to, 1	Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene.	OMIM:181000|ICD9:135	mondo.json	sarcoidosis, susceptibility to, type 1|susceptibility to sarcoidosis 1|sarcoidosis, susceptibility to, 1|sarcoidosis|HLA-DRB1 sarcoidosis|SS1|sarcoidosis caused by mutation in HLA-DRB1|Boeck sarcoid	http://purl.obolibrary.org/obo/MONDO_0008399	https://omim.org/entry/181000	predisposition
MONDO:0021370	biolink:Disease	neoplasm of minor salivary gland	A neoplasm (disease) that involves the minor salivary gland.	NCIT:C4409|SCTID:126798006|UMLS:C0345613	mondo.json	minor salivary gland neoplasm|neoplasm of minor salivary gland|tumor of minor salivary gland|neoplasm of the minor salivary gland|minor salivary gland neoplasm (disease)|minor salivary gland tumor|tumor of the minor salivary gland	http://purl.obolibrary.org/obo/MONDO_0021370	NCIT:C4409|http://identifiers.org/snomedct/126798006|UMLS:C0345613	
MONDO:0008398	biolink:Disease	salivary substance, Clostridium botulinum type		UMLS:C1867056|OMIM:180950	mondo.json	salivary substance, Clostridium botulinum type	http://purl.obolibrary.org/obo/MONDO_0008398	UMLS:C1867056|https://omim.org/entry/180950	
MONDO:0008397	biolink:Disease	aplasia of lacrimal and salivary glands	Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.	SCTID:715656004|OMIM:180920|DOID:0111549|Orphanet:86815	mondo.json	aplasia of lacrimal and salivary glands|ALSG|parotid aplasia or hypoplasia|congenital absence of lacrimal puncta and salivary glands|salivary glands, absence of, include|salivary glands, absence of	http://purl.obolibrary.org/obo/MONDO_0008397	Orphanet:86815|DOID:0111549|https://omim.org/entry/180920|http://identifiers.org/snomedct/715656004	ordo_disease
MONDO:0008396	biolink:Disease	oculodental syndrome, Rutherfurd type	Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.	SCTID:699754008|UMLS:C0796140|ICD9:759.89|OMIM:180900|Orphanet:2709|GARD:0000212|MESH:C537732	mondo.json	corneal dystrophy with gum hypertrophy|gingival Hypertrophy with corneal dystrophy|corneal dystrophy with gum Hypertrophy|gingival hypertrophy corneal dystrophy|Rutherfurd syndrome|gingival hypertrophy-corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0008396	UMLS:C0796140|Orphanet:2709|http://identifiers.org/mesh/C537732|http://identifiers.org/snomedct/699754008|https://omim.org/entry/180900	gard_rare|ordo_malformation_syndrome
MONDO:0021372	biolink:Disease	neoplasm of temporal lobe	A neoplasm (disease) that involves the temporal lobe.	UMLS:C1263887|SCTID:126955002|NCIT:C5567	mondo.json	neoplasm of the temporal lobe|tumor of temporal lobe|temporal lobe neoplasm (disease)|temporal lobe neoplasm|neoplasm of temporal lobe|tumor of the temporal lobe|temporal lobe tumor	http://purl.obolibrary.org/obo/MONDO_0021372	UMLS:C1263887|NCIT:C5567|http://identifiers.org/snomedct/126955002	
GO:0090206	biolink:NamedThing	negative regulation of cholesterol metabolic process	Any process that decreases the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones.		mondo.json		http://purl.obolibrary.org/obo/GO_0090206		
MONDO:0033362	biolink:Disease	developmental and epileptic encephalopathy, 53		DOID:0080464|OMIM:617389|UMLS:C4479313	mondo.json	DEE53|EIEE53|developmental and epileptic encephalopathy 53|epileptic encephalopathy, early infantile, 53	http://purl.obolibrary.org/obo/MONDO_0033362	UMLS:C4479313|https://omim.org/entry/617389|DOID:0080464	
MONDO:0008395	biolink:Disease	Ruvalcaba syndrome	An extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.	ICD9:759.89|GARD:0004748|UMLS:C0265248|SCTID:3073006|Orphanet:3121|OMIM:180870|MESH:C579395	mondo.json	Ruvalcaba syndrome	http://purl.obolibrary.org/obo/MONDO_0008395	Orphanet:3121|http://identifiers.org/mesh/C579395|UMLS:C0265248|http://identifiers.org/snomedct/3073006|https://omim.org/entry/180870	ordo_malformation_syndrome|gard_rare
MONDO:0033361	biolink:Disease	developmental and epileptic encephalopathy, 52		UMLS:C4479236|OMIM:617350|DOID:0080455	mondo.json	developmental and epileptic encephalopathy 52|epileptic encephalopathy, early infantile, 52|EIEE52|DEE52	http://purl.obolibrary.org/obo/MONDO_0033361	UMLS:C4479236|DOID:0080455|https://omim.org/entry/617350	
MONDO:0008394	biolink:Disease	Silver-Russell syndrome	Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.	ICD9:759.89|SCTID:15069006|DOID:14681|Orphanet:813|NCIT:C85068|MedDRA:10062282|UMLS:C0175693|MESH:D056730|GARD:0004870|OMIMPS:180860	mondo.json	Silver Russell syndrome|Silver-Russell dwarfism|Russell-Silver dwarfism|Silver Russell dwarfism|SRS|Russell-Silver syndrome|Silver-Russell syndrome|Russell Silver syndrome	http://purl.obolibrary.org/obo/MONDO_0008394	http://identifiers.org/mesh/D056730|UMLS:C0175693|https://omim.org/phenotypicSeries/PS180860|DOID:14681|Orphanet:813|NCIT:C85068|http://identifiers.org/snomedct/15069006	ordo_disease
MONDO:0008393	biolink:Disease	Rubinstein-Taybi syndrome due to CREBBP mutations	Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene.	OMIM:180849|Orphanet:353277|NCIT:C153290	mondo.json	broad thumbs and great toes, characteristic facies, and mental retardation|Rubinstein-Taybi syndrome due to CREBBP mutations|RSTS1|broad thumb-hallux syndrome|CREBBP Rubinstein-Taybi syndrome|RSTS|Rubinstein-Taybi syndrome type 1|Rubinstein syndrome|Rubinstein-Taybi syndrome caused by mutation in CREBBP|broad thumbs and great toes, characteristic facies, and intellectual disability|Rubinstein-Taybi syndrome 1	http://purl.obolibrary.org/obo/MONDO_0008393	https://omim.org/entry/180849|Orphanet:353277|NCIT:C153290	ordo_clinical_subtype
MONDO:0008392	biolink:Disease	Roussy-Levy syndrome		SCTID:45853006|ICD9:334.3|OMIM:180800|GARD:0004741|Orphanet:3115	mondo.json	Roussy levy hereditary areflexic dystasia|HMSN I|Roussy-levy syndrome|hereditary areflexic dystasia, Roussy-levy type|Roussy levy syndrome|hereditary motor sensory neuropathy I|hereditary areflexic dystasia, Roussy-Lévy type|Roussy-levy disease|Roussy-levy hereditary areflexic dystasia|Charcot-Marie-Tooth disease (variant)|Roussy-Lévy syndrome|Charcot-Marie-Tooth-Roussy-levy disease|hereditary areflexic dystasia	http://purl.obolibrary.org/obo/MONDO_0008392	http://identifiers.org/snomedct/45853006|https://omim.org/entry/180800|Orphanet:3115	ordo_disease
GO:0090205	biolink:NamedThing	positive regulation of cholesterol metabolic process	Any process that increases the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones.		mondo.json		http://purl.obolibrary.org/obo/GO_0090205		
MONDO:0008391	biolink:Disease	Robinow-Sorauf syndrome		MESH:C537183|Orphanet:3106|UMLS:CN203672|OMIM:180750|UMLS:C1867146	mondo.json	acrocephalosyndactyly, Robinow-Sorauf type|Robinow-Sorauf syndrome|craniosynostosis-bifid hallux syndrome	http://purl.obolibrary.org/obo/MONDO_0008391	UMLS:CN203672|http://identifiers.org/mesh/C537183|UMLS:C1867146|https://omim.org/entry/180750	
MONDO:0008390	biolink:Disease	Rombo syndrome	Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.	GARD:0004738|UMLS:C1867147|OMIM:180730|MESH:C535870|SCTID:721904001|Orphanet:3110	mondo.json	Rombo syndrome|vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis	http://purl.obolibrary.org/obo/MONDO_0008390	UMLS:C1867147|https://omim.org/entry/180730|http://identifiers.org/mesh/C535870|http://identifiers.org/snomedct/721904001|Orphanet:3110	gard_rare|ordo_disease
MONDO:0033369	biolink:Disease	developmental and epileptic encephalopathy, 60		DOID:0080432|UMLS:CN244549|OMIM:617929	mondo.json	epileptic encephalopathy, early infantile, 60|developmental and epileptic encephalopathy 60|EIEE60|DEE60	http://purl.obolibrary.org/obo/MONDO_0033369	DOID:0080432|https://omim.org/entry/617929|UMLS:CN244549	
MONDO:0033368	biolink:Disease	developmental and epileptic encephalopathy, 59		OMIM:617904|DOID:0080291|UMLS:CN870853	mondo.json	epileptic encephalopathy, early infantile, 59|DEE59|EIEE59|infantile epileptic encephalopathy 59|developmental and epileptic encephalopathy 59	http://purl.obolibrary.org/obo/MONDO_0033368	DOID:0080291|https://omim.org/entry/617904|UMLS:CN870853	
MONDO:0033367	biolink:Disease	developmental and epileptic encephalopathy, 58		Orphanet:442835|OMIM:617830|DOID:0080285|UMLS:CN757795	mondo.json	EIEE58|DEE58|infantile epileptic encephalopathy 58|developmental and epileptic encephalopathy 58|epileptic encephalopathy, early infantile, 58	http://purl.obolibrary.org/obo/MONDO_0033367	DOID:0080285|https://omim.org/entry/617830|UMLS:CN757795	
MONDO:0033366	biolink:Disease	developmental and epileptic encephalopathy, 57		DOID:0080284|OMIM:617771|UMLS:CN633295	mondo.json	infantile epileptic encephalopathy 57|DEE57|EIEE57|epileptic encephalopathy, early infantile, 57|developmental and epileptic encephalopathy 57	http://purl.obolibrary.org/obo/MONDO_0033366	DOID:0080284|UMLS:CN633295|https://omim.org/entry/617771	
MONDO:0033365	biolink:Disease	developmental and epileptic encephalopathy, 56		UMLS:CN477042|OMIM:617665|DOID:0080282	mondo.json	infantile epileptic encephalopathy 56|DEE56|EIEE56|developmental and epileptic encephalopathy 56|epileptic encephalopathy, early infantile, 56	http://purl.obolibrary.org/obo/MONDO_0033365	UMLS:CN477042|https://omim.org/entry/617665|DOID:0080282	
MONDO:0033364	biolink:Disease	developmental and epileptic encephalopathy, 55		OMIM:617599|DOID:0080283	mondo.json	DEE55|EIEE55|glycosylphosphatidylinositol biosynthesis defect 14|infantile epileptic encephalopathy 55|developmental and epileptic encephalopathy 55|epileptic encephalopathy, early infantile, 55	http://purl.obolibrary.org/obo/MONDO_0033364	https://omim.org/entry/617599|DOID:0080283	
MONDO:0033363	biolink:Disease	developmental and epileptic encephalopathy, 54		DOID:0080418|UMLS:C4479319|OMIM:617391	mondo.json	developmental and epileptic encephalopathy 54|epileptic encephalopathy, early infantile, 54|EIEE54|DEE54	http://purl.obolibrary.org/obo/MONDO_0033363	https://omim.org/entry/617391|UMLS:C4479319|DOID:0080418	
MONDO:0021362	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0021362		
MONDO:0021364	biolink:Disease	neoplasm of oropharynx	A neoplasm (disease) that involves the oropharynx.	NCIT:C3291|UMLS:C0029295|SCTID:126809003	mondo.json	oropharynx neoplasm (disease)|oropharyngeal neoplasms|tumor of oropharynx|neoplasm of oropharynx|oropharynx tumor|neoplasm of the oropharynx|oropharynx neoplasm|tumor of the oropharynx|oropharyngeal neoplasm|oropharyngeal tumor	http://purl.obolibrary.org/obo/MONDO_0021364	http://identifiers.org/snomedct/126809003|UMLS:C0029295|NCIT:C3291	
MONDO:0021366	biolink:Disease	neoplasm of middle ear	A neoplasm (disease) that involves the middle ear.	NCIT:C4412|SCTID:127006003|ICD9:239.89	mondo.json	middle Ear neoplasm|neoplasm of the middle Ear|middle Ear tumor|neoplasm of middle ear|middle ear neoplasm|middle ear tumor|tumor of middle Ear|tumor of the middle Ear|middle ear neoplasm (disease)|tumor of middle ear	http://purl.obolibrary.org/obo/MONDO_0021366	NCIT:C4412|http://identifiers.org/snomedct/127006003	
MONDO:0021367	biolink:Disease	leukemia, myeloid, accelerated-phase	The phase of chronic myeloid leukemia following the chronic phase (leukemia, myeloid, chronic-phase), where there are increased systemic symptoms, worsening cytopenias, and refractory leukocytosis.	EFO:1001755|UMLS:C0023472|MESH:D015465	mondo.json	Leukemia, Myeloid, Accelerated-Phase|Myeloid Leukemia, Chronic, Aggressive Phase|Leukemia, Myelogenous, Aggressive-Phase|Leukemia, Myeloid, Accelerated Phase|Leukemia, Myeloid, Aggressive-Phase|Leukemia, Myelogenous, Aggressive Phase|CML ACCELERATED|Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive|Myeloid Leukemia, Chronic, Accelerated-Phase|Aggressive-Phase CML|Accelerated Phase CML|Myeloid Leukemia, Chronic, Accelerated Phase|Aggressive-Phase Chronic Myeloid Leukemia|Accelerated Phase Chronic Myeloid Leukemia|CML AGGRESSIVE|Accelerated Phase Chronic Granulocytic Leukemia|Myelogenous Leukemia, Chronic, Aggressive-Phase|Accelerated Phase Chronic Myelogenous Leukemia|Aggressive-Phase Chronic Myelogenous Leukemia|Myeloid Leukemia, Chronic, Aggressive-Phase|Accelerated phase chronic myeloid leukemia|Myelogenous Leukemia, Chronic, Aggressive Phase|Aggressive-Phase Chronic Myelocytic Leukemia|Accelerated Phase Chronic Myelocytic Leukemia	http://purl.obolibrary.org/obo/MONDO_0021367	UMLS:C0023472|http://identifiers.org/mesh/D015465	
MONDO:0021368	biolink:Disease	neoplasm of major salivary gland	A neoplasm (disease) that involves the major salivary gland.	SCTID:126787005|UMLS:C0345599|NCIT:C4407	mondo.json	major salivary gland neoplasm|tumor of Major salivary gland|tumor of major salivary gland|major salivary gland tumor|tumor of the Major salivary gland|major salivary gland neoplasm (disease)|neoplasm of major salivary gland|neoplasm of the Major salivary gland	http://purl.obolibrary.org/obo/MONDO_0021368	UMLS:C0345599|http://identifiers.org/snomedct/126787005|NCIT:C4407	
MONDO:0021360	biolink:Disease	tumor of parathyroid gland	A neoplasm (disease) that involves the parathyroid gland.	SCTID:127020005|ICD9:239.7|NCIT:C3313	mondo.json	parathyroid gland neoplasm (disease)|neoplasm of parathyroid gland|parathyroid neoplasm|tumor of the parathyroid gland|parathyroid gland neoplasm|parathyroid gland tumor|tumor of the parathyroid|tumor of parathyroid|tumor of parathyroid gland|neoplasm of the parathyroid gland|neoplasm of the parathyroid|neoplasm of parathyroid|parathyroid tumor	http://purl.obolibrary.org/obo/MONDO_0021360	NCIT:C3313|http://identifiers.org/snomedct/127020005	
NCBITaxon:1489838	biolink:OrganismalEntity	Paracanthopterygii		GC_ID:1	mondo.json	Paracanthomorphacea	http://purl.obolibrary.org/obo/NCBITaxon_1489838		
MONDO:0033373	biolink:Disease	developmental and epileptic encephalopathy, 64		OMIM:618004|UMLS:CN248512	mondo.json	DEE64|EIEE64|developmental and epileptic encephalopathy 64|epileptic encephalopathy, early infantile, 64	http://purl.obolibrary.org/obo/MONDO_0033373	UMLS:CN248512|https://omim.org/entry/618004	
MONDO:0033372	biolink:Disease	developmental and epileptic encephalopathy, 63		OMIM:617976|UMLS:CN244926|DOID:0080426	mondo.json	epileptic encephalopathy, early infantile, 63|developmental and epileptic encephalopathy 63|DEE63|EIEE63	http://purl.obolibrary.org/obo/MONDO_0033372	https://omim.org/entry/617976|UMLS:CN244926|DOID:0080426	
MONDO:0033371	biolink:Disease	developmental and epileptic encephalopathy, 62		OMIM:617938|DOID:0080420|UMLS:CN244551	mondo.json	developmental and epileptic encephalopathy 62|epileptic encephalopathy, early infantile, 62|DEE62|EIEE62	http://purl.obolibrary.org/obo/MONDO_0033371	UMLS:CN244551|DOID:0080420|https://omim.org/entry/617938	
MONDO:0033370	biolink:Disease	developmental and epileptic encephalopathy, 61		DOID:0080434|OMIM:617933|UMLS:CN244550	mondo.json	epileptic encephalopathy, early infantile, 61|developmental and epileptic encephalopathy 61|EIEE61|DEE61	http://purl.obolibrary.org/obo/MONDO_0033370	UMLS:CN244550|DOID:0080434|https://omim.org/entry/617933	
MONDO:0033375	biolink:Disease	orofaciodigital syndrome 17		UMLS:CN902091|OMIM:617926|DOID:0080289	mondo.json	orofaciodigital syndrome XVII|Ofds 17|oral-Facial-digital syndrome, type 17|OFD17	http://purl.obolibrary.org/obo/MONDO_0033375	https://omim.org/entry/617926|UMLS:CN902091|DOID:0080289	
MONDO:0033374	biolink:Disease	developmental and epileptic encephalopathy, 65		DOID:0080430|OMIM:618008|UMLS:CN248516	mondo.json	epileptic encephalopathy, early infantile, 65|developmental and epileptic encephalopathy 65|EIEE65|DEE65	http://purl.obolibrary.org/obo/MONDO_0033374	UMLS:CN248516|https://omim.org/entry/618008|DOID:0080430	
MONDO:0021351	biolink:Disease	neoplasm of neck	A neoplasm (disease) that involves the neck.	UMLS:C0027533|NCIT:C3260|SCTID:126635000|ICD9:239.89	mondo.json	neck neoplasm (disease)|neoplasm of neck|tumor of neck|neck neoplasms (Including All pharyngeal related neoplasms)|neoplasm of the neck|neck neoplasm|neck tumor|tumor of the neck	http://purl.obolibrary.org/obo/MONDO_0021351	UMLS:C0027533|http://identifiers.org/snomedct/126635000|NCIT:C3260	
MONDO:0021353	biolink:Disease	tumor of uterus	A neoplasm (disease) that involves the uterus.	ONCOTREE:UTERUS|ICD9:239.5|SCTID:126908007|EFO:0003859|NCIT:C3435	mondo.json	tumor of uterus|uterus neoplasm|neoplasm of the uterus|neoplasm of uterus|uterus tumor|uterine neoplasm|uterine tumor|tumor of the uterus|uterus neoplasm (disease)|uterine neoplasms	http://purl.obolibrary.org/obo/MONDO_0021353	http://identifiers.org/snomedct/126908007|NCIT:C3435	
MONDO:0021354	biolink:Disease	tumor of adipose tissue	A neoplasm (disease) that involves the adipose tissue.	NCIT:C4248|UMLS:C0206631|SCTID:254831005|ICD9:239.2	mondo.json	lipomatous neoplasm|neoplasm of the adipose tissue|adipose tissue neoplasm (disease)|adipose tissue neoplasm|lipomatous tumor|neoplasm of adipose tissue|adipose tissue tumor|tumor of the adipose tissue|tumor of adipose tissue	http://purl.obolibrary.org/obo/MONDO_0021354	UMLS:C0206631|http://identifiers.org/snomedct/254831005|NCIT:C4248	
MONDO:0021355	biolink:Disease	neoplasm of esophagus	A neoplasm (disease) that involves the esophagus.	NCIT:C3028|UMLS:C0014859|SCTID:126817006	mondo.json	esophageal tumor|tumor of esophagus|neoplasm of the esophagus|esophagus neoplasm (disease)|esophageal neoplasms, benign and malignant|esophagus neoplasm|neoplasm of esophagus|esophageal neoplasm|esophagus tumor|tumor of the esophagus|esophageal tumors	http://purl.obolibrary.org/obo/MONDO_0021355	http://identifiers.org/snomedct/126817006|UMLS:C0014859|NCIT:C3028	
MONDO:0021357	biolink:Disease	tumor of salivary gland	A neoplasm (disease) that involves the saliva-secreting gland.	NCIT:C3361|EFO:0003826|SCTID:235132004	mondo.json	tumor of saliva-secreting gland|salivary gland neoplasm|tumor of the salivary gland|saliva-secreting gland neoplasm (disease)|neoplasm of saliva-secreting gland|saliva-secreting gland tumor|neoplasm of salivary gland|salivary gland tumor|neoplasm of the salivary gland|saliva-secreting gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0021357	NCIT:C3361|http://identifiers.org/snomedct/235132004	
MONDO:0021358	biolink:Disease	neoplasm of hypopharynx	A neoplasm (disease) that involves the hypopharynx.	NCIT:C3127|SCTID:126686005	mondo.json	hypopharyngeal neoplasm|hypopharynx neoplasm (disease)|tumor of hypopharynx|neoplasm of the hypopharynx|hypopharynx neoplasm|hypopharyngeal tumor|neoplasm of hypopharynx|hypopharynx tumor|hypopharyngeal neoplasms|tumor of the hypopharynx	http://purl.obolibrary.org/obo/MONDO_0021358	NCIT:C3127|http://identifiers.org/snomedct/126686005	
MONDO:0008379	biolink:Disease	retinitis pigmentosa 10	Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene.	DOID:0110388|ICD10CM:H35.5|MESH:C566715|UMLS:C1867299|OMIM:180105	mondo.json	retinitis pigmentosa type 10|retinitis pigmentosa caused by mutation in IMPDH1|IMPDH1 retinitis pigmentosa|retinitis pigmentosa 10|RP10	http://purl.obolibrary.org/obo/MONDO_0008379	DOID:0110388|https://omim.org/entry/180105|http://identifiers.org/mesh/C566715|UMLS:C1867299	
MONDO:0008378	biolink:Disease	retinitis pigmentosa 9	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP9 gene.	OMIM:180104|GARD:0010382|DOID:0110387|MESH:C566716|UMLS:C1867300|ICD10CM:H35.5	mondo.json	retinitis pigmentosa caused by mutation in RP9|RP9|RP9 retinitis pigmentosa|retinitis pigmentosa 9|RP 9|retinitis pigmentosa type 9	http://purl.obolibrary.org/obo/MONDO_0008378	https://omim.org/entry/180104|http://identifiers.org/mesh/C566716|UMLS:C1867300|DOID:0110387	gard_rare
MONDO:0008377	biolink:Disease	retinitis pigmentosa 1	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene.	GARD:0009149|MESH:C538365|UMLS:C0220701|OMIM:180100|DOID:0110390|ICD10CM:H35.5	mondo.json	retinitis pigmentosa|RP1|RP|retinitis pigmentosa 1|retinitis pigmentosa caused by mutation in RP1|RP1 retinitis pigmentosa|retinitis pigmentosa type 1	http://purl.obolibrary.org/obo/MONDO_0008377	UMLS:C0220701|http://identifiers.org/mesh/C538365|https://omim.org/entry/180100|DOID:0110390	
MONDO:0008376	biolink:Disease	retinal venous beading		OMIM:180080	mondo.json	retinal venous beading	http://purl.obolibrary.org/obo/MONDO_0008376	https://omim.org/entry/180080	
MONDO:0008375	biolink:Disease	retinal detachment	An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision.	ICD9:362.40|ICD9:361.9|OMIM:180050|OMIM:312530|DOID:5327|NCIT:C26874|ICD9:361.89|UMLS:C0035305|SCTID:42059000|MESH:D012163|EFO:0005773	mondo.json	retina, detached|retinal detachment|detached retina	http://purl.obolibrary.org/obo/MONDO_0008375	NCIT:C26874|http://identifiers.org/snomedct/42059000|https://omim.org/entry/180050|DOID:5327|http://identifiers.org/mesh/D012163|UMLS:C0035305	
MONDO:0021350	biolink:Disease	neoplasm of thorax	A neoplasm (disease) that involves the thoracic segment of trunk.	SCTID:255058005|UMLS:C0039981|NCIT:C3406|ICD10CM:C30-C39|ICD9:239.89	mondo.json	thoracic segment of trunk neoplasm|neoplasm of the thorax|tumor of thoracic segment of trunk|thoracic segment of trunk neoplasm (disease)|tumor of thorax|neoplasm of thoracic segment of trunk|tumor of the thorax|thoracic neoplasm|thoracic segment of trunk tumor|thoracic tumor	http://purl.obolibrary.org/obo/MONDO_0021350	UMLS:C0039981|http://identifiers.org/snomedct/255058005|NCIT:C3406	
MONDO:0008374	biolink:Disease	retinal cone dystrophy type 1		MESH:C566719|GARD:0003196|OMIM:180020	mondo.json	retinal cone dystrophy-1|cone dystrophy, autosomal dominant|retinal cone Degeneration|cone dystrophy autosomal dominant|RCD1|retinal cone dystrophy 1	http://purl.obolibrary.org/obo/MONDO_0008374	https://omim.org/entry/180020|http://identifiers.org/mesh/C566719	
MONDO:0008373	biolink:Disease	retinal arterial tortuosity		OMIM:180000|Orphanet:75326|DOID:0111547|HP:0001136	mondo.json	retinal arterial tortuosity|retinal arteriolar tortuosity|RATOR|retinal arterial tortuosity (disease)|retinal hemorrhage with vascular tortuosity|retinal arteries, tortuosity OF|tortuosity of retinal arteries	http://purl.obolibrary.org/obo/MONDO_0008373	Orphanet:75326|https://omim.org/entry/180000|DOID:0111547	ordo_disease
MONDO:0008372	biolink:Disease	retinal aplasia		OMIM:179900|MESH:C566720|UMLS:C1867331	mondo.json	amaurosis congenita|retinal aplasia	http://purl.obolibrary.org/obo/MONDO_0008372	https://omim.org/entry/179900|http://identifiers.org/mesh/C566720|UMLS:C1867331	
MONDO:0008371	biolink:Disease	Dowling-Degos disease	A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.	GARD:0009775|Orphanet:79145|MESH:C562924|DOID:0060256|MedDRA:10068651|SCTID:239133004	mondo.json	dark dot disease|DDD1|reticular pigment anomaly of flexures|Dowling-Degos Kitamura disease|Dowling-Degos disease type 1|Dowling-Degos disease 1	http://purl.obolibrary.org/obo/MONDO_0008371	http://identifiers.org/mesh/C562924|Orphanet:79145|DOID:0060256	ordo_disease
MONDO:0008370	biolink:Disease	obsolete reticular dystrophy of retinal pigment epithelium			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008370		
PATO:0001475	biolink:NamedThing	increased position	A position which is relatively high.		mondo.json	high position	http://purl.obolibrary.org/obo/PATO_0001475		
PATO:0001476	biolink:NamedThing	decreased position	A positional which is relatively low.		mondo.json	low position	http://purl.obolibrary.org/obo/PATO_0001476		
HGNC:28093	biolink:NamedThing	BBIP1			mondo.json		http://identifiers.org/hgnc/28093		
MONDO:0021348	biolink:Disease	neoplasm of testis	A neoplasm (disease) that involves the testis.	NCIT:C3404|ONCOTREE:TESTIS|EFO:0004281|SCTID:126900000|ICD9:239.5	mondo.json	tumor of the testis|testicular tumor|testicular neoplasm|testis neoplasm (disease)|tumor of testis|testis neoplasm|neoplasm of the testis|neoplasm of testis|testis tumor	http://purl.obolibrary.org/obo/MONDO_0021348	NCIT:C3404|http://identifiers.org/snomedct/126900000	
MONDO:0021340	biolink:Disease	intertrigo	A superficial dermatitis occurring on skin surfaces in contact with each other, such as the axillae, neck creases, intergluteal fold, between the toes, etc. Obesity is a predisposing factor. The condition is caused by moisture and friction and is characterized by erythema, maceration, burning, and exudation.	UMLS:C0021807|SCTID:58759008|ICD9:695.89|MESH:D007402	mondo.json	Erythema intertrigo|Eczema intertrigo|Intertrigo	http://purl.obolibrary.org/obo/MONDO_0021340	http://identifiers.org/mesh/D007402|http://identifiers.org/snomedct/58759008|UMLS:C0021807	
MONDO:0021343	biolink:Disease	carcinoma of floor of mouth	A carcinoma that involves the mouth floor.	NCIT:C9319|SCTID:449156009	mondo.json	carcinoma of mouth floor|mouth floor carcinoma|carcinoma of the floor of the mouth|floor of the mouth carcinoma|mouth floor cancer|floor of mouth carcinoma	http://purl.obolibrary.org/obo/MONDO_0021343	http://identifiers.org/snomedct/449156009|NCIT:C9319	
MONDO:0021345	biolink:Disease	carcinoma of pharynx	A carcinoma that involves the pharynx.	NCIT:C9466|SCTID:449254004	mondo.json	pharyngeal carcinoma|carcinoma of the pharynx|pharyngeal throat cancer|cancer of the pharynx|pharynx carcinoma|carcinoma of pharynx	http://purl.obolibrary.org/obo/MONDO_0021345	NCIT:C9466|http://identifiers.org/snomedct/449254004	
MONDO:0021347	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0021347		
MONDO:0008389	biolink:Disease	autosomal dominant Robinow syndrome	Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.	Orphanet:3107|SCTID:76520005|ICD9:759.89|UMLS:CN203673	mondo.json	Robinow syndrome, autosomal dominant|autosomal dominant Robinow syndrome|Robinow syndrome, autosomal dominant type	http://purl.obolibrary.org/obo/MONDO_0008389	Orphanet:3107|UMLS:CN203673|http://identifiers.org/snomedct/76520005	ordo_clinical_subtype
MONDO:0008388	biolink:Disease	ringed hair disease	Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases.	MESH:C537187|Orphanet:169|GARD:0004359|OMIM:180600|SCTID:21926007|UMLS:C0263489	mondo.json	pili annulati|ringed hair	http://purl.obolibrary.org/obo/MONDO_0008388	http://identifiers.org/mesh/C537187|Orphanet:169|http://identifiers.org/snomedct/21926007|https://omim.org/entry/180600|UMLS:C0263489	ordo_disease
MONDO:0008387	biolink:Disease	ring dermoid of cornea	Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.	OMIM:180550|GARD:0009696|UMLS:C1867155|SCTID:723499000|DOID:0111548|Orphanet:91481|MESH:C535684	mondo.json	RING dermoid of cornea|ring dermoid of cornea|Ring dermoid syndrome|bilateral, annular limbal dermoids with corneal and conjunctival extension|RDC	http://purl.obolibrary.org/obo/MONDO_0008387	http://identifiers.org/snomedct/723499000|Orphanet:91481|https://omim.org/entry/180550|UMLS:C1867155|DOID:0111548|http://identifiers.org/mesh/C535684	gard_rare|ordo_disease
MONDO:0008386	biolink:Disease	Axenfeld-Rieger syndrome type 1	A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth.	OMIM:180500|NCIT:C75015|UMLS:C3714873|DOID:0110120	mondo.json	Axenfeld-Rieger syndrome, type 1|Rgs|Rieger syndrome type 1|Axenfeld-Rieger syndrome type 1|Rieger syndrome, type 1|RIEG1|Rieg|Axenfeld-Rieger syndrome caused by mutation in PITX2|PITX2 Axenfeld-Rieger syndrome	http://purl.obolibrary.org/obo/MONDO_0008386	UMLS:C3714873|NCIT:C75015|https://omim.org/entry/180500|DOID:0110120	
MONDO:0008385	biolink:Disease	rhiny		OMIM:180360|MESH:C566708	mondo.json	rhiny|craniorhiny	http://purl.obolibrary.org/obo/MONDO_0008385	https://omim.org/entry/180360|http://identifiers.org/mesh/C566708	n_of_one
MONDO:0008384	biolink:Disease	rheumatoid nodulosis	A particular variant of polyarthritis associated with early manifestations of palindromic rheumatism, radiologic subchondral bone cysts, and subcutaneous rheumatoid nodules.	MESH:D012218|OMIM:180350|SCTID:402426007|UMLS:C1304215|SCTID:402427003|GARD:0009625	mondo.json	accelerated rheumatoid nodulosis|rheumatoid nodulosis	http://purl.obolibrary.org/obo/MONDO_0008384	http://identifiers.org/snomedct/402426007|UMLS:C1304215|https://omim.org/entry/180350|http://identifiers.org/mesh/D012218|http://identifiers.org/snomedct/402427003	gard_rare
MONDO:0008383	biolink:Disease	rheumatoid arthritis	A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor.	MESH:D001172|OMIM:180300|DOID:7148|EFO:0000685|ICD9:714.0|SCTID:69896004|KEGG:05323|NCIT:C2884|Orphanet:284130|UMLS:C0003873|OMIM:604302	mondo.json	atrophic arthritis|rheumatoid arthritis, susceptibility to|RA|autoimmune arthritis|rheumatoid arthritis|arthritis, rheumatoid|rheumatoid arthritis, progression of|arthritis or polyarthritis, rheumatic	http://purl.obolibrary.org/obo/MONDO_0008383	DOID:7148|http://identifiers.org/mesh/D001172|UMLS:C0003873|Orphanet:284130|NCIT:C2884|https://omim.org/entry/180300|http://identifiers.org/snomedct/69896004	
MONDO:0008382	biolink:Disease	retinoschisis, autosomal dominant	Autosomal dominant form of retinoschisis.	OMIM:180270|GARD:0009144|UMLS:C1867235|MESH:C000598640	mondo.json	autosomal dominant retinoschisis|retinoschisis, autosomal dominant|retinoschisis autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008382	http://identifiers.org/mesh/C000598640|https://omim.org/entry/180270|UMLS:C1867235	gard_rare
MONDO:0008381	biolink:Disease	dominant pericentral pigmentary retinopathy	A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life.	OMIM:180210|ICD10CM:H35.5|MESH:C566713|UMLS:C1867261|DOID:0110420	mondo.json	retinopathy, pericentral pigmentary, dominant	http://purl.obolibrary.org/obo/MONDO_0008381	https://omim.org/entry/180210|http://identifiers.org/mesh/C566713|UMLS:C1867261|DOID:0110420	
PATO:0001481	biolink:NamedThing	sloped	A shape quality inhering in a bearer by virtue of the bearer's having an oblique or slanted direction.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001481		
MONDO:0008380	biolink:Disease	retinoblastoma	A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.	GARD:0007563|MedDRA:10038916|ONCOTREE:RBL|UMLS:C0035335|Orphanet:790|NCIT:C7541|ICDO:9510/3|MESH:D012175|NCIT:C6956|SCTID:370967009|DOID:768	mondo.json	eye cancer, retinoblastoma|RB|retinoblastoma, malignant|RB - retinoblastoma|retinoblastoma|RB1|Rb	http://purl.obolibrary.org/obo/MONDO_0008380	http://identifiers.org/snomedct/370967009|http://identifiers.org/mesh/D012175|DOID:768|Orphanet:790|NCIT:C7541|UMLS:C0035335	ordo_disease
MONDO:0021337	biolink:Disease	tonsil carcinoma	A carcinoma that involves the tonsil.	NCIT:C4825|SCTID:274085008|UMLS:C0558355	mondo.json	tonsil carcinoma|tonsil cancer|cancer of tonsil|cancer of the tonsil|tonsillar cancer|carcinoma of tonsil|carcinoma of the tonsil|tonsillar carcinoma	http://purl.obolibrary.org/obo/MONDO_0021337	UMLS:C0558355|NCIT:C4825|http://identifiers.org/snomedct/274085008	
MONDO:0021339	biolink:Disease	carcinoma of hard palate	A carcinoma that involves the hard palate.	NCIT:C8394|SCTID:254434008|UMLS:C0345550	mondo.json	carcinoma of the hard palate|hard palate carcinoma|carcinoma of hard palate	http://purl.obolibrary.org/obo/MONDO_0021339	http://identifiers.org/snomedct/254434008|UMLS:C0345550|NCIT:C8394	
NCBITaxon:43816	biolink:OrganismalEntity	Anophelinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_43816		
NCBITaxon:43817	biolink:OrganismalEntity	Culicinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_43817		
PATO:0001414	biolink:NamedThing	catalytic activity	A physical quality inhering in a catalyst by virtue of the amount of the catalyst's action.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001414		
PATO:0001411	biolink:NamedThing	structured	A structural quality inhering in a bearer by virtue of the bearer's having distinct structure.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001411		
PATO:0001412	biolink:NamedThing	unstructured	A structural quality inhering in a bearer by virtue of the bearer's lacking distinct structure.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001412		
PATO:0001410	biolink:NamedThing	striated	A shape quality inhering in a bearer by virtue of the bearer's being marked by narrow lines or grooves, usually parallel.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001410		
CHR:9606-chr17q21.3	biolink:NamedThing	17q21.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr17q21.3		
HGNC:28072	biolink:NamedThing	LYRM7			mondo.json		http://identifiers.org/hgnc/28072		
NCBITaxon:43801	biolink:OrganismalEntity	Ceratopogoninae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_43801		
MONDO:0033329	biolink:Disease	obsolete genetic precocious puberty		Orphanet:435554	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033329	Orphanet:435554	
CHR:9606-chr14q11.2	biolink:NamedThing	14q11.2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr14q11.2		
HGNC:28086	biolink:NamedThing	NDUFAF2			mondo.json		http://identifiers.org/hgnc/28086		
MONDO:0033336	biolink:Disease	obsolete genetic tracheal anomaly		Orphanet:435612	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033336	Orphanet:435612	
MONDO:0033335	biolink:Disease	obsolete genetic larynx anomaly		Orphanet:435609	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033335	Orphanet:435609	
MONDO:0033334	biolink:Disease	obsolete genetic nose and cavum anomaly		Orphanet:435606	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033334	Orphanet:435606	
GO:0090257	biolink:NamedThing	regulation of muscle system process	Any process that modulates the frequency, rate or extent of a muscle system process, a multicellular organismal process carried out by any of the organs or tissues in a muscle system.		mondo.json		http://purl.obolibrary.org/obo/GO_0090257		
MONDO:0033331	biolink:Disease	obsolete genetic precocious puberty in female		Orphanet:435564	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033331	Orphanet:435564	
MONDO:0021396	biolink:Disease	polyp of vulva	A polyp that involves the mammalian vulva.	NCIT:C3978|SCTID:57158005|ICD9:624.6|UMLS:C0269218|ICD10CM:N84.3	mondo.json	vulva polyp|polyp of the vulva|mammalian vulva polyp|vulvar polyp	http://purl.obolibrary.org/obo/MONDO_0021396	UMLS:C0269218|http://purl.bioontology.org/ontology/ICD10CM/N84.3|http://identifiers.org/snomedct/57158005|NCIT:C3978	
HGNC:16075	biolink:NamedThing	RAB33B			mondo.json		http://identifiers.org/hgnc/16075		
MONDO:0021398	biolink:Disease	polyp of rectum	A polyp that involves the rectum.	NCIT:C3351|UMLS:C0034887|SCTID:39772007	mondo.json	polyp of the rectum|rectum polyp|rectal polyp	http://purl.obolibrary.org/obo/MONDO_0021398	http://identifiers.org/snomedct/39772007|UMLS:C0034887|NCIT:C3351	
NCBITaxon:1489845	biolink:OrganismalEntity	Gadoidei		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1489845		
NCBITaxon:1489843	biolink:OrganismalEntity	Gadariae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1489843		
NCBITaxon:1489841	biolink:OrganismalEntity	Zeiogadaria		GC_ID:1	mondo.json	Zeiogadiformes	http://purl.obolibrary.org/obo/NCBITaxon_1489841		
MONDO:0021390	biolink:Disease	polyp of ureter	A polyp that involves the ureter.	UMLS:C0346269|SCTID:197821004|ICD9:593.89|NCIT:C4530	mondo.json	ureteral polyp|polyp of the ureter|ureter polyp	http://purl.obolibrary.org/obo/MONDO_0021390	NCIT:C4530|UMLS:C0346269|http://identifiers.org/snomedct/197821004	
MONDO:0021392	biolink:Disease	polyp of large intestine	A polyp that involves the large intestine.	SCTID:399505005|UMLS:C0949059|NCIT:C5679	mondo.json	colorectal polyp|polyp of the large bowel|large bowel polyp|large intestine polyp|polyp of large bowel|polyp of the large intestine	http://purl.obolibrary.org/obo/MONDO_0021392	NCIT:C5679|UMLS:C0949059|http://identifiers.org/snomedct/399505005	
MONDO:0021394	biolink:Disease	polyp of vagina	A polyp that involves the vagina.	ICD9:623.7|NCIT:C3664|ICD10CM:N84.2|UMLS:C0156390|SCTID:29609001	mondo.json	vagina polyp|vaginal polyp|polyp, vaginal, benign|polyp of the vagina	http://purl.obolibrary.org/obo/MONDO_0021394	UMLS:C0156390|http://identifiers.org/snomedct/29609001|http://purl.bioontology.org/ontology/ICD10CM/N84.2|NCIT:C3664	
HGNC:28052	biolink:NamedThing	XPNPEP3			mondo.json		http://identifiers.org/hgnc/28052		
GO:0016247	biolink:NamedThing	channel regulator activity	Bonds to and modulates the activity of a channel. A channel catalyzes energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel.		mondo.json		http://purl.obolibrary.org/obo/GO_0016247		
GO:0016248	biolink:NamedThing	channel inhibitor activity	Binds to and stops, prevents, or reduces the activity of a channel.		mondo.json		http://purl.obolibrary.org/obo/GO_0016248		
HGNC:16084	biolink:NamedThing	LIMS2			mondo.json		http://identifiers.org/hgnc/16084		
MONDO:0021385	biolink:Disease	extrahepatic bile duct neoplasm	A benign or malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include adenoma and adenocarcinoma.	NCIT:C4441|SCTID:126855001|UMLS:C0345913	mondo.json	tumor of extrahepatic bile duct|extrahepatic bile duct neoplasm (disease)|neoplasm of the extrahepatic bile duct|neoplasm of extrahepatic bile duct|extrahepatic bile duct tumor|tumor of the extrahepatic bile duct|extrahepatic bile duct neoplasm	http://purl.obolibrary.org/obo/MONDO_0021385	http://identifiers.org/snomedct/126855001|NCIT:C4441|UMLS:C0345913	
MONDO:0021386	biolink:Disease	neoplasm of mediastinum	A neoplasm (disease) that involves the mediastinum.	SCTID:126725000|ICD9:239.89|NCIT:C3221	mondo.json	mediastinal tumor|neoplasm of the mediastinum|tumor of mediastinum|mediastinum neoplasm (disease)|mediastinal neoplasm|tumor of the mediastinum|mediastinum neoplasm|neoplasm of mediastinum|mediastinum tumor	http://purl.obolibrary.org/obo/MONDO_0021386	NCIT:C3221|http://identifiers.org/snomedct/126725000	
MONDO:0021388	biolink:Disease	neoplasm of chest wall	A neoplasm (disease) that involves the chest wall.	UMLS:C1290309|NCIT:C4929|SCTID:126640008|ICD9:239.89	mondo.json	chest wall tumor|tumor of the chest wall|chest wall neoplasm|neoplasm of chest wall|chest wall neoplasm (disease)|tumor of chest wall|neoplasm of the chest wall	http://purl.obolibrary.org/obo/MONDO_0021388	UMLS:C1290309|http://identifiers.org/snomedct/126640008|NCIT:C4929	
MONDO:0021389	biolink:Disease	neoplasm of aortic body	A benign or malignant extra-adrenal parasympathetic paraganglioma that arises from paraganglia adjacent to the base of the heart and great vessels.	ICDO:8691/1|ICD9:239.7|UMLS:C0334417|NCIT:C4218|SCTID:127029006	mondo.json	paraganglioma of the aortic body|paraganglioma of aortic body|aortic body paraganglioma|tumor of aortic body|neoplasm of the aortic body|neoplasm of aortic body|aortic body neoplasm (disease)|aortic body tumor|tumor of the aortic body|aorticopulmonary paraganglioma|aortic body neoplasm	http://purl.obolibrary.org/obo/MONDO_0021389	NCIT:C4218|UMLS:C0334417|http://identifiers.org/snomedct/127029006	
MONDO:0021380	biolink:Disease	neoplasm of myocardium	A neoplasm (disease) that involves the myocardium.	ICD9:239.89|SCTID:126732009|NCIT:C5349|UMLS:C1290402	mondo.json	myocardial neoplasm|tumor of the myocardium|myocardium neoplasm|tumor of myocardium|myocardial tumor|neoplasm of the myocardium|myocardium neoplasm (disease)|neoplasm of myocardium|myocardium tumor	http://purl.obolibrary.org/obo/MONDO_0021380	NCIT:C5349|http://identifiers.org/snomedct/126732009|UMLS:C1290402	
MONDO:0021381	biolink:Disease	neoplasm of pericardium	A neoplasm (disease) that involves the pericardium.	ICD9:239.89|NCIT:C4651|SCTID:126734005	mondo.json	pericardium neoplasm (disease)|pericardial neoplasm|tumor of the pericardium|neoplasm of pericardium|pericardium tumor|pericardium neoplasm|pericardial tumor|tumor of pericardium|neoplasm of the pericardium	http://purl.obolibrary.org/obo/MONDO_0021381	http://identifiers.org/snomedct/126734005|NCIT:C4651	
MONDO:0021383	biolink:Disease	neoplasm of floor of mouth	A neoplasm (disease) that involves the mouth floor.	UMLS:C0345538|NCIT:C4401|SCTID:126799003	mondo.json	floor of mouth neoplasm|mouth floor neoplasm (disease)|tumor of mouth floor|floor of the mouth neoplasm|neoplasm of the floor of the mouth|floor of the mouth tumor|floor of mouth tumor|neoplasm of mouth floor|mouth floor neoplasm|mouth floor tumor|tumor of floor of mouth|tumor of the floor of the mouth	http://purl.obolibrary.org/obo/MONDO_0021383	NCIT:C4401|http://identifiers.org/snomedct/126799003|UMLS:C0345538	
HGNC:16088	biolink:NamedThing	SFXN4			mondo.json		http://identifiers.org/hgnc/16088		
GO:0016250	biolink:NamedThing	N-sulfoglucosamine sulfohydrolase activity	Catalysis of the reaction: N-sulfo-D-glucosamine + H2O = D-glucosamine + sulfate.		mondo.json	N-sulphoglucosamine sulphohydrolase activity|N-sulfo-D-glucosamine sulfohydrolase activity|heparin sulfamidase activity|sulphamidase activity|sulfoglucosamine sulfamidase activity|2-desoxy-D-glucoside-2-sulphamate sulphohydrolase (sulphamate sulphohydrolase)	http://purl.obolibrary.org/obo/GO_0016250		
MONDO:0033352	biolink:Disease	neuropathy, congenital hypomelinating		OMIMPS:605253	mondo.json	CHN	http://purl.obolibrary.org/obo/MONDO_0033352	https://omim.org/phenotypicSeries/PS605253	
MONDO:0008319	biolink:Disease	protoporphyria, erythropoietic, 1	Erythropoietic protoporphyria caused by a compound heterozygous or homozygous mutation in the gene encoding ferrochelatase (FECH) on chromosome 18q21.	OMIM:177000|Orphanet:79278|GARD:0004527|NCIT:C84698	mondo.json	protoporphyria, erythropoietic|erythrohepatic protoporphyria|erythropoietic protoporphyria|heme synthetase deficiency|ferrochelatase deficiency|EPP1|EPP|protoporphyria, erythropoietic, 1	http://purl.obolibrary.org/obo/MONDO_0008319	NCIT:C84698|https://omim.org/entry/177000	gard_rare
MONDO:0008318	biolink:Disease	Proteus syndrome	Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.	GARD:0007475|ICD9:759.89|SCTID:23150001|DOID:13482|OMIM:176920|Orphanet:744|MESH:D016715|NCIT:C85032|UMLS:C0085261	mondo.json	Proteus syndrome|Wiedemann's syndrome|partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly|hemihypertrophy and macrocephaly|Elattoproteus syndrome|proteus syndrome, somatic|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly	http://purl.obolibrary.org/obo/MONDO_0008318	http://identifiers.org/snomedct/23150001|http://identifiers.org/mesh/D016715|UMLS:C0085261|Orphanet:744|https://omim.org/entry/176920|DOID:13482|NCIT:C85032	ordo_malformation_syndrome
MONDO:0008317	biolink:Disease	proteolytic capacity of plasma		OMIM:176900	mondo.json	proteolytic capacity of plasma	http://purl.obolibrary.org/obo/MONDO_0008317	https://omim.org/entry/176900	
MONDO:0008316	biolink:Disease	thrombophilia due to protein C deficiency, autosomal dominant		OMIM:176860	mondo.json	thrombophilia 3 due to protein C deficiency, autosomal dominant|THPH3|thrombophilia due to PROTEIN C deficiency, autosomal dominant|thrombophilia due to protein C deficiency, autosomal dominant|Protein C deficiency, autosomal dominant|Proc deficiency, autosomal dominant|Protein C deficiency, acquired	http://purl.obolibrary.org/obo/MONDO_0008316	https://omim.org/entry/176860	
MONDO:0008315	biolink:Disease	prostate cancer	A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas.	DOID:10283|ICD9:185|OMIM:176807|SCTID:399068003|UMLS:C0376358|NCIT:C7378|MESH:D011471	mondo.json	prostate cancer, familial|malignant tumor of prostate|prostate cancer|hereditary prostate cancer|malignant neoplasm of prostate|malignant neoplasm of prostate gland|malignant prostate tumor|malignant neoplasm of the prostate|prostate neoplasm|prostate gland cancer|tumor of the prostate|malignant prostate neoplasm|prostatic cancer|malignant tumor of the prostate|prostatic neoplasm|malignant prostate gland neoplasm|cancer of prostate gland|NGP - new growth of prostate	http://purl.obolibrary.org/obo/MONDO_0008315	http://identifiers.org/mesh/D011471|NCIT:C7378|http://identifiers.org/snomedct/399068003|DOID:10283|UMLS:C0376358	ordo_disease
NCBITaxon:28221	biolink:OrganismalEntity	Deltaproteobacteria		PMID:28771119|PMID:11837318|GC_ID:11|PMID:16403855|PMID:27453056|PMID:33151140	mondo.json	d-proteobacteria|Proteobacteria delta subdivision|Purple bacteria, delta subdivision|delta subgroup|Myxococcia|delta subdivision|Deltabacteria Cavalier-Smith 2002|"Deltabacteria" Cavalier-Smith 1992|delta proteobacteria	http://purl.obolibrary.org/obo/NCBITaxon_28221		
MONDO:0011967	biolink:Disease	heterotopia, periventricular, associated with chromosome 5P anomalies		MESH:C564291|OMIM:608098|UMLS:C1842562	mondo.json	heterotopia, periventricular, associated with chromosome 5P anomalies|periventricular nodular heterotopia 3	http://purl.obolibrary.org/obo/MONDO_0011967	http://identifiers.org/mesh/C564291|UMLS:C1842562|https://omim.org/entry/608098	
UBERON:0005192	biolink:AnatomicalEntity	deferent duct artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005192		
MONDO:0011968	biolink:Disease	autosomal recessive limb-girdle muscular dystrophy type 2D	Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.	OMIM:608099|NCIT:C142081|SCTID:715340002|DOID:0110278|Orphanet:62|GARD:0000438	mondo.json	SGCA autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy, type 2D|primary adhalinopathy|muscular dystrophy, limb-girdle, type 2D|Duchenne-like autosomal recessive muscular dystrophy type 2|muscular dystrophy limb-girdle with alpha-sarcoglycan|limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency|limb-girdle muscular dystrophy type 2D|Alpha-sarcoglycanopathy|muscular dystrophy, limb-girdle, autosomal recessive 3|LGMD2D|Adhalinopathy, primary|DMDA2|autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA|Duchenne-like autosomal recessive muscular dystrophy, type 2	http://purl.obolibrary.org/obo/MONDO_0011968	DOID:0110278|NCIT:C142081|Orphanet:62|https://omim.org/entry/608099|http://identifiers.org/snomedct/715340002	ordo_disease
MONDO:0008314	biolink:Disease	pronation-supination of the forearm, impairment of		MESH:C566757|UMLS:C1867726|OMIM:176800	mondo.json	pronation-supination of the forearm, impairment of	http://purl.obolibrary.org/obo/MONDO_0008314	http://identifiers.org/mesh/C566757|https://omim.org/entry/176800|UMLS:C1867726	
MONDO:0011965	biolink:Disease	familial temporal lobe epilepsy 2	A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3.	Orphanet:98819|GARD:0005135|OMIM:608096|MESH:C536956|DOID:0060755	mondo.json	temporal epilepsy, familial|Ftle|familial temporal lobe epilepsy|familial temporal lobe epilepsy type 2|epilepsy, familial temporal lobe, 2|epilepsy, familial temporal lobe|ETL2	http://purl.obolibrary.org/obo/MONDO_0011965	Orphanet:98819|http://identifiers.org/mesh/C536956|DOID:0060755|https://omim.org/entry/608096	ordo_disease
MONDO:0008313	biolink:Disease	pelvic organ prolapse, susceptibility to		OMIM:176780|UMLS:C0034888	mondo.json	prolapse of vagina and rectum|pelvic organ prolapse, susceptibility to|pelvic organ prolapse, susceptibility to, 1|vaginal prolapse|rectal prolapse	http://purl.obolibrary.org/obo/MONDO_0008313	https://omim.org/entry/176780	predisposition
MONDO:0008312	biolink:Disease	autosomal dominant prognathism	Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion).	Orphanet:2964|UMLS:CN203311|MESH:D008313|OMIM:176700|GARD:0010319	mondo.json	Hapsburg jaw|Habsburg jaw|prognathism, mandibular|'Habsburg jaw'|'Hapsburg jaw'|prognathism mandibular	http://purl.obolibrary.org/obo/MONDO_0008312	Orphanet:2964|http://identifiers.org/mesh/D008313|https://omim.org/entry/176700|UMLS:CN203311	ordo_malformation_syndrome
MONDO:0011966	biolink:Disease	periventricular heterotopia with microcephaly, autosomal recessive		MESH:C564292|UMLS:C1842563|OMIM:608097	mondo.json	ARPHM|periventricular nodular heterotopia 2|heterotopia, periventricular, autosomal recessive|periventricular heterotopia with microcephaly, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0011966	http://identifiers.org/mesh/C564292|UMLS:C1842563|https://omim.org/entry/608097	
MONDO:0008311	biolink:Disease	progeria-short stature-pigmented nevi syndrome	Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat.	ICD9:759.89|Orphanet:2959|UMLS:C1261128|OMIM:176690|MESH:C536422|SCTID:399947002|GARD:0004494	mondo.json	progeroid short stature with pigmented nevi|Mulvihill-Smith syndrome	http://purl.obolibrary.org/obo/MONDO_0008311	Orphanet:2959|http://identifiers.org/mesh/C536422|https://omim.org/entry/176690|http://identifiers.org/snomedct/399947002|UMLS:C1261128	ordo_malformation_syndrome
HGNC:28033	biolink:NamedThing	CCDC174			mondo.json		http://identifiers.org/hgnc/28033		
MONDO:0008310	biolink:Disease	Hutchinson-Gilford progeria syndrome	Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).	DOID:3911|Orphanet:740|SCTID:238870004|UMLS:CN236401|NCIT:C34951|MedDRA:10036794|ICD9:259.8|GARD:0007467|OMIM:176670|UMLS:C0033300|MESH:D011371	mondo.json	Hutchinson-Gilford progeria syndrome|premature senility syndrome|Hutchinson Gilford syndrome|Hutchinson-Gilford disease|HGPS|progeria syndrome, childhood-onset|progeria|Hutchinson Gilford progeria syndrome|Hutchinson-Gilford progeria	http://purl.obolibrary.org/obo/MONDO_0008310	https://omim.org/entry/176670|Orphanet:740|NCIT:C34951|http://identifiers.org/mesh/D011371|UMLS:CN236401|DOID:3911|http://identifiers.org/snomedct/238870004|UMLS:C0033300	clingen|prototype_pattern|ordo_disease|gard_rare
MONDO:0011969	biolink:Disease	ALG8-congenital disorder of glycosylation	A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.	DOID:0080560|GARD:0009834|Orphanet:79325|SCTID:720977000|OMIM:608104|UMLS:C2931002|MESH:C535746	mondo.json	ALG8-CDG (CDG-Ih)|CDG syndrome type Ih|congenital disorder of glycosylation type Ih|ALG8-CDG|congenital disorder of glycosylation, type Ih|CDG1H|CDG 1H|ALG8-congenital disorder of glycosylation|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type 1h|carbohydrate deficient glycoprotein syndrome type Ih|CDG-Ih|CDG Ih	http://purl.obolibrary.org/obo/MONDO_0011969	DOID:0080560|http://identifiers.org/snomedct/720977000|Orphanet:79325|http://identifiers.org/mesh/C535746|UMLS:C2931002|https://omim.org/entry/608104	ordo_disease
MONDO:0011970	biolink:Disease	rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome		OMIM:608105|Orphanet:163727|UMLS:C1842531|MESH:C535499|DOID:0111645	mondo.json	epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp|EPRPDC|epilepsy, ROLANDIC, with paroxysmal exercise-induced dystonia and writer'S cramp|Re-ped-Wc	http://purl.obolibrary.org/obo/MONDO_0011970	https://omim.org/entry/608105|DOID:0111645|http://identifiers.org/mesh/C535499|UMLS:C1842531|Orphanet:163727	ordo_disease
MONDO:0011971	biolink:Disease	hyper-IgM syndrome type 5	Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene.	GARD:0010581|DOID:0060759|OMIM:608106|Orphanet:101092	mondo.json	hyper-IgM syndrome type 5|hyper-IgM syndrome due to uracil N-glycosylase|hyper-IgM syndrome caused by mutation in UNG|HIGM5|immunodeficiency with hyper IgM, type 5|immunodeficiency with hyper-IgM, type 5|hyper IgM syndrome 5|hyper-IgM syndrome due to UNG deficiency|immunodeficiency with hyper IgM type 5|UNG hyper-IgM syndrome|hyper-IgM syndrome 5	http://purl.obolibrary.org/obo/MONDO_0011971	DOID:0060759|Orphanet:101092|https://omim.org/entry/608106	gard_rare|ordo_clinical_subtype
HGNC:3483	biolink:NamedThing	ETFDH			mondo.json		http://identifiers.org/hgnc/3483		
UBERON:0005199	biolink:AnatomicalEntity	cervical mammary gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005199		
HGNC:3482	biolink:NamedThing	ETFB			mondo.json		http://identifiers.org/hgnc/3482		
MONDO:0035940	biolink:Disease	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)		NCIT:C80331|Orphanet:585909	mondo.json	BCR-ABL1-like B-ALL|Philadelphia chromosome-like B-ALL|B-ALL with t(9;22)(q34.1;q11.2)	http://purl.obolibrary.org/obo/MONDO_0035940	NCIT:C80331|Orphanet:585909	ordo_subtype_of_a_disorder
HGNC:3481	biolink:NamedThing	ETFA			mondo.json		http://identifiers.org/hgnc/3481		
MONDO:0011974	biolink:Disease	retinitis pigmentosa 7	A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21.	DOID:0110383|ICD10CM:H35.5|UMLS:C1842475|OMIM:608133|GARD:0010386	mondo.json	leber congenital amaurosis 18, autosomal recessive, autosomal dominant, digenic dominant|Leber congenital amaurosis 18|RP7|retinitis pigmentosa 7 and digenic form, autosomal recessive, autosomal dominant, digenic dominant|retinitis pigmentosa type 7|retinitis pigmentosa 7, digenic|retinitis pigmentosa 7, digenic form, autosomal recessive, autosomal dominant, digenic dominant|RP 7|retinitis pigmentosa 7	http://purl.obolibrary.org/obo/MONDO_0011974	DOID:0110383|UMLS:C1842475|https://omim.org/entry/608133	gard_rare
MONDO:0035941	biolink:Disease	B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)		Orphanet:585918|NCIT:C80332	mondo.json	B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged|B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged	http://purl.obolibrary.org/obo/MONDO_0035941	NCIT:C80332|Orphanet:585918	ordo_subtype_of_a_disorder
MONDO:0011975	biolink:Disease	paternal uniparental disomy of chromosome 14		Orphanet:96334|UMLS:C1842466|OMIM:608149|MESH:C536471|GARD:0005409	mondo.json	paternal uniparental disomy of chromosome type 14|UPD(14)pat|KAGAMI-Ogata syndrome|paternal uniparental disomy 14|paternal uniparental disomy of chromosome 14|uniparental disomy, paternal, chromosome 14	http://purl.obolibrary.org/obo/MONDO_0011975	Orphanet:96334|UMLS:C1842466|https://omim.org/entry/608149|http://identifiers.org/mesh/C536471	ordo_etiological_subtype|gard_rare
MONDO:0035942	biolink:Disease	B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)		NCIT:C80334|Orphanet:585929	mondo.json	B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1|B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1	http://purl.obolibrary.org/obo/MONDO_0035942	NCIT:C80334|Orphanet:585929	ordo_subtype_of_a_disorder
CHR:9606-chr21q	biolink:NamedThing	21q (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr21q		
UBERON:0005195	biolink:AnatomicalEntity	deferent duct vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005195		
MONDO:0011972	biolink:Disease	ovarian hyperstimulation syndrome	A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries.	OMIM:608115|SCTID:129635004|Orphanet:64739|UMLS:C0085083|DOID:5425|ICD9:256.1|MedDRA:10033266|MESH:D016471	mondo.json	OHSS|ovarian hyperstimulation syndrome, familial gestational spontaneous|secondary Meig's syndrome|ovarian hyperstimulation syndrome	http://purl.obolibrary.org/obo/MONDO_0011972	https://omim.org/entry/608115|http://identifiers.org/mesh/D016471|Orphanet:64739|UMLS:C0085083|DOID:5425|http://identifiers.org/snomedct/129635004	ordo_disease
MONDO:0035943	biolink:Disease	B-lymphoblastic leukemia/lymphoma with hyperdiploidy		NCIT:C80335|Orphanet:585936	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035943	Orphanet:585936|NCIT:C80335	ordo_subtype_of_a_disorder
UBERON:0005194	biolink:AnatomicalEntity	thoracic vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005194		
MONDO:0011973	biolink:Disease	zinc deficiency, transient neonatal		MESH:C564286|OMIM:608118|UMLS:C1842486	mondo.json	zinc deficiency, transient neonatal|TNZD|zinc in breast milk, reduced|zinc deficiency, neonatal, due to Low breast milk zinc	http://purl.obolibrary.org/obo/MONDO_0011973	https://omim.org/entry/608118|http://identifiers.org/mesh/C564286|UMLS:C1842486	
MONDO:0035944	biolink:Disease	B-lymphoblastic leukemia/lymphoma with hypodiploidy		Orphanet:585942|NCIT:C80338	mondo.json	Hypodiploid ALL	http://purl.obolibrary.org/obo/MONDO_0035944	Orphanet:585942|NCIT:C80338	ordo_subtype_of_a_disorder
FOODON:03400164	biolink:NamedThing	dairy product (us cfr)	Milk, a product derived from milk, or a dairy product analog; includes cheese and frozen dairy desserts. [FDA CFSAN 1995]	http://www.langual.org/langual_thesaurus.asp?termid=A0164	mondo.json		http://purl.obolibrary.org/obo/FOODON_03400164		
UBERON:0017163	biolink:AnatomicalEntity	skin bony tubercle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0017163		
MONDO:0008329	biolink:Disease	autosomal dominant pseudohypoaldosteronism type 1	Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney.	GARD:0009145|NCIT:C126810|DOID:0060855|Orphanet:171871|UMLS:C1449842|OMIM:177735	mondo.json	PHA I, autosomal dominant|renal pseudohypoaldosteronism type 1|autosomal dominant PHA 1|renal PHA1|pseudohypoaldosteronism type i, autosomal dominant|pseudohypoaldosteronism type 1, dominant|PHA1A|autosomal dominant pseudohypoaldosteronism type 1|pseudohypoaldosteronism type 1 autosomal dominant|pseudohypoaldosteronism, type I, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008329	Orphanet:171871|UMLS:C1449842|https://omim.org/entry/177735|NCIT:C126810|DOID:0060855	ordo_clinical_subtype|gard_rare
NCBITaxon:43845	biolink:OrganismalEntity	Drosophilinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_43845		
MONDO:0008328	biolink:Disease	glaucoma 1, open angle, P		MESH:C566748|UMLS:C3888338|OMIM:177700	mondo.json	glaucoma 1, open angle, type P|glaucoma 1, open angle, P|GLC1P	http://purl.obolibrary.org/obo/MONDO_0008328	UMLS:C3888338|https://omim.org/entry/177700|http://identifiers.org/mesh/C566748	
MONDO:0008327	biolink:Disease	exfoliation syndrome	An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma.	OMIM:177650|MESH:D017889|Orphanet:529819|ICD9:365.52|UMLS:C0206368|NCIT:C129025|EFO:0004235|DOID:13641|SCTID:111514006	mondo.json	pseudoexfoliation syndrome|XFS|pseudoexfoliation glaucoma|XFG	http://purl.obolibrary.org/obo/MONDO_0008327	Orphanet:529819|NCIT:C129025|UMLS:C0206368|DOID:13641|http://identifiers.org/snomedct/111514006|http://identifiers.org/mesh/D017889	
UBERON:5101463	biolink:AnatomicalEntity	manual digit 1 digitopodial skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_5101463		
MONDO:0008326	biolink:Disease	obsolete pseudocholinesterase, increase in plasma level of		OMIM:177600	mondo.json	pseudocholinesterase, increase in plasma level OF	http://purl.obolibrary.org/obo/MONDO_0008326	https://omim.org/entry/177600	
MONDO:0011956	biolink:Disease	autism, susceptibility to, 3		OMIM:608049	mondo.json	autism susceptibility 3, isolated cases|AUTS3|autism, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0011956	https://omim.org/entry/608049	predisposition
MONDO:0035945	biolink:Disease	B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)		Orphanet:585948|NCIT:C80340	mondo.json	B lymphoblastic leukemia lymphoma with t(5;14)(q31;q32); IL3-IGH	http://purl.obolibrary.org/obo/MONDO_0035945	Orphanet:585948|NCIT:C80340	ordo_subtype_of_a_disorder
UBERON:0005181	biolink:AnatomicalEntity	thoracic segment organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005181		
NCBITaxon:28211	biolink:OrganismalEntity	Alphaproteobacteria		PMID:11837318|GC_ID:11|PMID:16166687|PMID:16403855|PMID:11541974|PMID:19060069	mondo.json	Purple bacteria, alpha subdivision|alpha subdivision|alpha proteobacteria|Alphabacteria|Proteobacteria alpha subdivision|alpha subgroup|a-proteobacteria	http://purl.obolibrary.org/obo/NCBITaxon_28211		
MONDO:0011957	biolink:Disease	retinal macular dystrophy type 2	Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.	OMIM:608051|Orphanet:319640|ICD10CM:H35.5|MESH:C562746	mondo.json	MCDR2|macular dystrophy, retinal, type 2|macular dystrophy, retinal, 2	http://purl.obolibrary.org/obo/MONDO_0011957	https://omim.org/entry/608051|http://identifiers.org/mesh/C562746|Orphanet:319640	ordo_disease
MONDO:0008325	biolink:Disease	Pseudoatrophoderma colli		MESH:C562909|UMLS:C0406561|OMIM:177350|SCTID:238840009	mondo.json	Pseudoatrophoderma colli	http://purl.obolibrary.org/obo/MONDO_0008325	UMLS:C0406561|https://omim.org/entry/177350|http://identifiers.org/snomedct/238840009|http://identifiers.org/mesh/C562909	
FOODON:03400172	biolink:NamedThing	prepared food product (us cfr)	Food product that is 1) ready or nearly ready for consumption; 2) usually a composite of several foods or ingredients that often belong to distinct product types; 3) usually formulated, mixed and partially or fully cooked. Prepared foods often undergo several of the processes listed in *F. EXTENT OF HEAT TREATMENT* and *H. TREATMENT APPLIED*; these factors should be carefully considered in indexing. The classification of prepared food products emphasizes consumption characteristics. [FDA CFSAN 1995]	http://www.langual.org/langual_thesaurus.asp?termid=A0172	mondo.json		http://purl.obolibrary.org/obo/FOODON_03400172		
MONDO:0011954	biolink:Disease	melanoma, cutaneous malignant, susceptibility to, 4		OMIM:608035	mondo.json	melanoma, cutaneous malignant, susceptibility to, 4|melanoma, cutaneous malignant, 4|CMM4	http://purl.obolibrary.org/obo/MONDO_0011954	https://omim.org/entry/608035	predisposition
MONDO:0008324	biolink:Disease	pseudoarthrogryposis		OMIM:177300|MESH:C566753|UMLS:C1867485	mondo.json	hereditary congenital rigidity of elbows and knees|pseudoarthrogryposis|ankylosis at elbow and knee	http://purl.obolibrary.org/obo/MONDO_0008324	https://omim.org/entry/177300|http://identifiers.org/mesh/C566753|UMLS:C1867485	
MONDO:0011955	biolink:Disease	diabetes mellitus, noninsulin-dependent, 4		UMLS:C1842642|MESH:C564299|OMIM:608036	mondo.json	noninsulin-dependent diabetes mellitus 4|diabetes mellitus, noninsulin-dependent, type 4|diabetes mellitus, noninsulin-dependent, 4|Niddm4	http://purl.obolibrary.org/obo/MONDO_0011955	http://identifiers.org/mesh/C564299|UMLS:C1842642|https://omim.org/entry/608036	
MONDO:0008323	biolink:Disease	Liddle syndrome	Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone.	MESH:D056929|GARD:0007381|UMLS:C0221043|OMIMPS:177200|DOID:0050477|MedDRA:10037113|SCTID:707747007|NCIT:C84827|Orphanet:526|MedDRA:10052313	mondo.json	Liddle syndrome|Liddle's syndrome|pseudohyperaldosteronism type 1|pseudoaldosteronism|LIDLS	http://purl.obolibrary.org/obo/MONDO_0008323	https://omim.org/phenotypicSeries/PS177200|http://identifiers.org/mesh/D056929|Orphanet:526|DOID:0050477|UMLS:C0221043|http://identifiers.org/snomedct/707747007|NCIT:C84827	ordo_disease|gard_rare
MONDO:0008322	biolink:Disease	pseudoachondroplasia	Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.	NCIT:C118635|DOID:0080047|UMLS:C0410538|OMIM:177170|ICD9:756.9|MESH:C535819|GARD:0004540|Orphanet:750|SCTID:22567005	mondo.json	pseudoachondroplasia|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome|Pseudoachondroplastic dysplasia|spondyloepiphyseal dysplasia, Pseudoachondroplastic|spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC|PSACH|Pseudoachondroplastic spondyloepiphyseal dysplasia|pseudoachondroplastic dysplasia	http://purl.obolibrary.org/obo/MONDO_0008322	NCIT:C118635|DOID:0080047|UMLS:C0410538|Orphanet:750|http://identifiers.org/mesh/C535819|http://identifiers.org/snomedct/22567005|https://omim.org/entry/177170	ordo_disease|gard_rare
MONDO:0008321	biolink:Disease	pruritus, hereditary localized		OMIM:177100|MESH:C566754|UMLS:C1867499	mondo.json	pruritus, hereditary localized	http://purl.obolibrary.org/obo/MONDO_0008321	http://identifiers.org/mesh/C566754|UMLS:C1867499|https://omim.org/entry/177100	
MONDO:0008320	biolink:Disease	Protrusio acetabuli		OMIM:177050|HP:0003179|SCTID:59606006	mondo.json	PROTRUSIO acetabuli|Protrusio acetabuli|Protrusio acetabuli (disease)	http://purl.obolibrary.org/obo/MONDO_0008320	http://identifiers.org/snomedct/59606006|https://omim.org/entry/177050	
MONDO:0011958	biolink:Disease	bile and pancreatic ducts, complete absence of		OMIM:608063|MESH:C564298	mondo.json	bile and pancreatic ducts, complete absence of	http://purl.obolibrary.org/obo/MONDO_0011958	http://identifiers.org/mesh/C564298|https://omim.org/entry/608063	
MONDO:0011959	biolink:Disease	sweet syndrome	Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis.	UMLS:C0085077|GARD:0000521|Orphanet:3243|ICD9:702.8|MESH:D016463|SCTID:84625002|MedDRA:10000748|OMIM:608068|NCIT:C85177	mondo.json	neutrophilic dermatosis, acute febrile|Gomm button disease|acute febrile neutrophilic dermatosis|Afnd|sweet syndrome|Gomm-button disease	http://purl.obolibrary.org/obo/MONDO_0011959	http://identifiers.org/snomedct/84625002|NCIT:C85177|https://omim.org/entry/608068|http://identifiers.org/mesh/D016463|Orphanet:3243|UMLS:C0085077	ordo_disease
HGNC:3495	biolink:NamedThing	ETV6			mondo.json		http://identifiers.org/hgnc/3495		
MONDO:0011960	biolink:Disease	schizophrenia 11	A schizophrenia that has material basis in a mutation on chromosome 10q22.3.	DOID:0070087|UMLS:C1842605|OMIM:608078	mondo.json	Sczd11|schizophrenia type 11|SCZD11|schizophrenia susceptibility locus, chromosome 10Q-related|schizophrenia 11	http://purl.obolibrary.org/obo/MONDO_0011960	UMLS:C1842605|https://omim.org/entry/608078|DOID:0070087	
NCBITaxon:28216	biolink:OrganismalEntity	Betaproteobacteria		PMID:28581923|GC_ID:11|PMID:16403855	mondo.json	b-proteobacteria|beta subgroup|beta subdivision|Purple bacteria, beta subdivision|Proteobacteria beta subdivision|beta proteobacteria	http://purl.obolibrary.org/obo/NCBITaxon_28216		
MONDO:0011963	biolink:Disease	Joubert syndrome 2	Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene.	DOID:0110988|GARD:0010167|UMLS:C1842577|MESH:C536294|OMIM:608091	mondo.json	JBTS2|Joubert syndrome type 2|Joubert syndrome caused by mutation in TMEM216|Joubert syndrome 2|cerebellooculorenal syndrome 2|Cerebellooculorenal syndrome 2|CORS2|TMEM216 Joubert syndrome	http://purl.obolibrary.org/obo/MONDO_0011963	UMLS:C1842577|DOID:0110988|https://omim.org/entry/608091|http://identifiers.org/mesh/C536294	gard_rare
CHR:9606-chr22q	biolink:NamedThing	22q (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr22q		
UBERON:0005185	biolink:AnatomicalEntity	renal medulla collecting duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005185		
MONDO:0011964	biolink:Disease	DPAGT1-congenital disorder of glycosylation	DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).	GARD:0009837|DOID:0080562|OMIM:608093|SCTID:725079003|UMLS:C2931004|MESH:C535748|NCIT:C126874|Orphanet:86309	mondo.json	carbohydrate deficient glycoprotein syndrome type Ij|CDG-Ij|DPAGT1-CDG|congenital disorder of glycosylation, type Ij|CDG 1J|DPAGT1-CDG (CDG-Ij)|CDG syndrome type Ij|DPAGT1-congenital disorder of glycosylation|congenital disorder of glycosylation type Ij|CDG Ij|CDG1J|dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency|CDGIj|congenital disorder of glycosylation type 1j	http://purl.obolibrary.org/obo/MONDO_0011964	http://identifiers.org/mesh/C535748|UMLS:C2931004|NCIT:C126874|https://omim.org/entry/608093|http://identifiers.org/snomedct/725079003|Orphanet:86309|DOID:0080562	ordo_disease
UBERON:0005184	biolink:AnatomicalEntity	hair medulla			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005184		
MONDO:0011961	biolink:Disease	hereditary sensory and autonomic neuropathy type 1B	Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR).	Orphanet:139564|PMID:12870133|MESH:C564296|OMIM:608088|SCTID:717825008|PMID:16311270|UMLS:C4303567|UMLS:C1842586|DOID:0070148	mondo.json	hereditary sensory neuropathy type 1B|neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux|hereditary sensory neuropathy type IB|neuropathy, hereditary sensory, type IB|HSAN with cough and gastroesophageal reflux|hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux|hereditary sensory and autonomic neuropathy type IB|neuropathy, hereditary sensory and autonomic, type 1B|HSAN1B|neuropathy, hereditary sensory, type 1B	http://purl.obolibrary.org/obo/MONDO_0011961	UMLS:C4303567|http://identifiers.org/mesh/C564296|UMLS:C1842586|https://omim.org/entry/608088|Orphanet:139564|DOID:0070148|http://identifiers.org/snomedct/717825008	ordo_disease
MONDO:0011962	biolink:Disease	endometrial cancer	Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity).	GARD:0011981|KEGG:05213|DOID:1380|EFO:0004230|NCIT:C27815|OMIM:608089	mondo.json	endometrial cancer|endometrium cancer|primary malignant neoplasm of endometrium|malignant endometrium neoplasm|malignant endometrial neoplasm|endometrial Ca|cancer of endometrium|endometrial neoplasm|malignant neoplasm of endometrium|tumor of endometrium|endometrial carcinoma, somatic|endometrial cancer, familial, autosomal dominant, somatic mutation|neoplasm of endometrium|endometrial cancer, susceptibility to, autosomal dominant, somatic mutation	http://purl.obolibrary.org/obo/MONDO_0011962	DOID:1380|NCIT:C27815|https://omim.org/entry/608089	
HGNC:3498	biolink:NamedThing	MECOM			mondo.json		http://identifiers.org/hgnc/3498		
HGNC:3497	biolink:NamedThing	EVC			mondo.json		http://identifiers.org/hgnc/3497		
HGNC:16068	biolink:NamedThing	PCNT			mondo.json		http://identifiers.org/hgnc/16068		
MONDO:0011945	biolink:Disease	Gaucher disease perinatal lethal	Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD).	GARD:0010675|OMIM:608013|Orphanet:85212|UMLS:C1842704|DOID:0110960|MESH:C564306	mondo.json	Gaucher's disease perinatal lethal|perinatal lethal Gaucher disease|Gaucher disease, collodion type|Gaucher disease, perinatal-lethal form|fetal Gaucher disease|Gaucher disease, perinatal lethal|Gaucher disease perinatal lethal|Gaucher disease collodion type	http://purl.obolibrary.org/obo/MONDO_0011945	Orphanet:85212|http://identifiers.org/mesh/C564306|UMLS:C1842704|DOID:0110960|https://omim.org/entry/608013	ordo_clinical_subtype|gard_rare
MONDO:0011946	biolink:Disease	diaphanospondylodysostosis	Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.	SCTID:721094006|UMLS:C1842691|Orphanet:66637|OMIM:608022|MESH:C564305	mondo.json	vertebral ossification, defect in, with nephrogenic rests|diaphanospondylodysostosis	http://purl.obolibrary.org/obo/MONDO_0011946	http://identifiers.org/mesh/C564305|UMLS:C1842691|Orphanet:66637|https://omim.org/entry/608022|http://identifiers.org/snomedct/721094006	ordo_malformation_syndrome
MONDO:0011943	biolink:Disease	systemic lupus erythematosus with nephritis, susceptibility to, 2		OMIM:607966	mondo.json	systemic lupus erythematosus with nephritis, susceptibility to, 2|SLEN2	http://purl.obolibrary.org/obo/MONDO_0011943	https://omim.org/entry/607966	predisposition
MONDO:0011944	biolink:Disease	systemic lupus erythematosus with nephritis, susceptibility to, 3		OMIM:607967	mondo.json	systemic lupus erythematosus with nephritis, susceptibility to, 3|SLEN3	http://purl.obolibrary.org/obo/MONDO_0011944	https://omim.org/entry/607967	predisposition
HGNC:28018	biolink:NamedThing	NIPAL4			mondo.json		http://identifiers.org/hgnc/28018		
MONDO:0011949	biolink:Disease	Thai symphalangism syndrome		MESH:C564303|UMLS:C1842679|GARD:0003557|OMIM:608028	mondo.json	Thai symphalangism syndrome	http://purl.obolibrary.org/obo/MONDO_0011949	http://identifiers.org/mesh/C564303|UMLS:C1842679|https://omim.org/entry/608028	gard_rare
MONDO:0011947	biolink:Disease	obsolete HNP1			mondo.json		http://purl.obolibrary.org/obo/MONDO_0011947		
MONDO:0011948	biolink:Disease	pontocerebellar hypoplasia type 3	Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.	SCTID:718609003|UMLS:C1842687|MESH:C548072|GARD:0010708|DOID:0060272|Orphanet:97249|OMIM:608027	mondo.json	PCH3|clam|Pch with optic atrophy|pontocerebellar hypoplasia, type 3|cerebellar atrophy with progressive microcephaly|PCLO non-syndromic pontocerebellar hypoplasia|PCH with optic atrophy|non-syndromic pontocerebellar hypoplasia caused by mutation in PCLO|PCH without dyskinesia	http://purl.obolibrary.org/obo/MONDO_0011948	http://identifiers.org/snomedct/718609003|http://identifiers.org/mesh/C548072|Orphanet:97249|UMLS:C1842687|DOID:0060272|https://omim.org/entry/608027	gard_rare|ordo_malformation_syndrome
HGNC:31670	biolink:NamedThing	ENO4			mondo.json		http://identifiers.org/hgnc/31670		
UBERON:0005178	biolink:AnatomicalEntity	thoracic cavity element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005178		
UBERON:0005177	biolink:AnatomicalEntity	trunk region element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005177		
UBERON:0005176	biolink:AnatomicalEntity	tooth enamel organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005176		
UBERON:0005175	biolink:AnatomicalEntity	chest organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005175		
MONDO:0011952	biolink:Disease	amyotrophic lateral sclerosis type 7		MESH:C564300|DOID:0060199|UMLS:C1842674|OMIM:608031|GARD:0010500	mondo.json	ALS7|amyotrophic lateral sclerosis 7	http://purl.obolibrary.org/obo/MONDO_0011952	http://identifiers.org/mesh/C564300|UMLS:C1842674|DOID:0060199|https://omim.org/entry/608031	gard_rare
UBERON:0005174	biolink:AnatomicalEntity	dorsal region element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005174		
MONDO:0011953	biolink:Disease	familial acute necrotizing encephalopathy	Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.	Orphanet:88619|GARD:0013232|OMIM:608033|UMLS:C4509836|SCTID:723359002	mondo.json	encephalopathy, acute, infection-induced, 3, susceptibility to|susceptibility to acute infection-induced encephalopathy-3|acute necrotizing encephalopathy type 1|ANE1|susceptibility to infection-induced acute encephalopathy 3|infection-induced acute encephalopathy 3|encephalopathy, acute necrotizing, susceptibility to|IIAE3|recurrent acute necrotizing encephalopathy|ADANE|encephalopathy, acute, infection-induced, susceptibility to, type 3|susceptibility to acute necrotizing encephalopathy|Postinfectious acute necrotizing hemorrhagic encephalopathy|autosomal dominant acute necrotizing encephalopathy|encephalopathy, acute, infection-induced, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0011953	http://identifiers.org/snomedct/723359002|UMLS:C4509836|https://omim.org/entry/608033|Orphanet:88619	predisposition|ordo_disease
UBERON:0005173	biolink:AnatomicalEntity	abdominal segment element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005173		
MONDO:0011950	biolink:Disease	infantile-onset autosomal recessive nonprogressive cerebellar ataxia		MESH:C537312|OMIM:608029|UMLS:C1842676|DOID:0111617|Orphanet:284332|GARD:0004954	mondo.json	autosomal recessive spinocerebellar ataxia type 6|spinocerebellar ataxia, autosomal recessive 6|SCAR6|cerebellar ataxia, infantile nonprogressive, autosomal recessive|spinocerebellar ataxia autosomal recessive 6|Norwegian infantile onset ataxia|cerebellar ataxia infantile nonprogressive autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0011950	DOID:0111617|UMLS:C1842676|https://omim.org/entry/608029|http://identifiers.org/mesh/C537312|Orphanet:284332	ordo_disease
UBERON:0005172	biolink:AnatomicalEntity	abdomen element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005172		
MONDO:0011951	biolink:Disease	amyotrophic lateral sclerosis type 6	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FUS gene.	MESH:C567699|DOID:0060198|GARD:0009874|OMIM:608030	mondo.json	FUS amyotrophic lateral sclerosis|autosomal recessive amyotrophic lateral sclerosis 6|amyotrophic lateral sclerosis caused by mutation in FUS|amyotrophic lateral sclerosis 6 with or without frontotemporal dementia|ALS6|amyotrophic lateral sclerosis 6, with or without frontotemporal dementia	http://purl.obolibrary.org/obo/MONDO_0011951	DOID:0060198|https://omim.org/entry/608030|http://identifiers.org/mesh/C567699	gard_rare
UBERON:0005171	biolink:AnatomicalEntity	hepatic duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005171		
UBERON:5101466	biolink:AnatomicalEntity	pedal digit digitopodial skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_5101466		
MONDO:0033304	biolink:Disease	nonsyndromic deafness, Y-linked		OMIMPS:400043	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033304	https://omim.org/phenotypicSeries/PS400043	
HGNC:31673	biolink:NamedThing	GRXCR1			mondo.json		http://identifiers.org/hgnc/31673		
HGNC:16035	biolink:NamedThing	STRC			mondo.json		http://identifiers.org/hgnc/16035		
UBERON:0005179	biolink:AnatomicalEntity	pelvic region element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005179		
MONDO:0008309	biolink:Disease	primary release disorder of platelets		MESH:C566759|OMIM:176630|GARD:0010357|UMLS:C1867770	mondo.json	bleeding disorder due to primary defects in platelet release mechanism|primary release disorder of platelets	http://purl.obolibrary.org/obo/MONDO_0008309	http://identifiers.org/mesh/C566759|https://omim.org/entry/176630|UMLS:C1867770	gard_rare
MONDO:0033309	biolink:Disease	Joubert syndrome 32		UMLS:CN596207|OMIM:617757|DOID:0080278	mondo.json	Joubert syndrome 32|JBTS32	http://purl.obolibrary.org/obo/MONDO_0033309	https://omim.org/entry/617757|UMLS:CN596207|DOID:0080278	
MONDO:0033308	biolink:Disease	Joubert syndrome 30		DOID:0080275|OMIM:617622	mondo.json	JBTS30|Joubert syndrome 30	http://purl.obolibrary.org/obo/MONDO_0033308	DOID:0080275|https://omim.org/entry/617622	
MONDO:0008308	biolink:Disease	priapism, familial idiopathic		OMIM:176620|GARD:0010016|UMLS:C1867771|MESH:C531791	mondo.json	priapism, familial idiopathic|familial idiopathic priapism	http://purl.obolibrary.org/obo/MONDO_0008308	http://identifiers.org/mesh/C531791|https://omim.org/entry/176620|UMLS:C1867771	
MONDO:0008307	biolink:Disease	presenile dementia, Kraepelin type		OMIM:176600|MESH:C535273|GARD:0010032|UMLS:C1867772	mondo.json	Kraepelin disease|catatonia of Kraepelin|presenile dementia, Kraepelin type	http://purl.obolibrary.org/obo/MONDO_0008307	https://omim.org/entry/176600|http://identifiers.org/mesh/C535273|UMLS:C1867772	gard_rare
MONDO:0008306	biolink:Disease	ABri amyloidosis	A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.	ICD10EXP:I68.0*|GARD:0008344|DOID:0070029|MESH:C538208|ICD10EXP:E85.4+|OMIM:176500|UMLS:C1867773|Orphanet:97345	mondo.json	ABri amyloidosis|FBD|Bri amyloidosis|familial dementia, British type|dementia, familial British|ITM2B-related cerebral amyloid angiopathy 1|familial British dementia|cerebral amyloid angiopathy, British type|dementia familial British|presenile dementia with spastic ataxia|cerebral amyloid angiopathy, ITM2B-RELATED, 1|cerebral amyloid angiopathy, ITM2B-related, type 1	http://purl.obolibrary.org/obo/MONDO_0008306	DOID:0070029|http://identifiers.org/mesh/C538208|Orphanet:97345|https://omim.org/entry/176500|UMLS:C1867773	ordo_clinical_subtype|gard_rare
MONDO:0008305	biolink:Disease	Currarino triad	Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae).	Orphanet:1552|UMLS:C1531773|GARD:0001626|ICD9:759.89|OMIM:176450|SCTID:413936007|DOID:0111546|MESH:C536221	mondo.json	Scra1|Currarino syndrome|sacral agenesis syndrome|partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation|Currarino triad|CURRARINO syndrome|sacral agenesis, hereditary, with presacral Mass, anterior meningocele, and/or teratoma, and anorectal malformation	http://purl.obolibrary.org/obo/MONDO_0008305	UMLS:C1531773|https://omim.org/entry/176450|Orphanet:1552|http://identifiers.org/mesh/C536221|http://identifiers.org/snomedct/413936007|DOID:0111546	ordo_malformation_syndrome
MONDO:0008304	biolink:Disease	premature chromatid separation trait		UMLS:C1864389|EFO:0009077|OMIM:176430	mondo.json	total premature chromatid separation trait|premature chromatid separation trait|PCS	http://purl.obolibrary.org/obo/MONDO_0008304	UMLS:C1864389|https://omim.org/entry/176430	
MONDO:0011934	biolink:Disease	dermatofibrosarcoma protuberans	Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).	MedDRA:10057070|UMLS:C0392784|ICDO:8832/3|Orphanet:31112|NCIT:C4683|GARD:0009569|SCTID:276799004|ONCOTREE:DFSP|MESH:D018223|DOID:3507|OMIM:607907	mondo.json	DFSP|dermatofibrosarcoma|metastatic dermatofibrosarcoma protuberans (subtype)|familial dermatofibrosarcoma protuberans (subtype)|dermatofibrosarcoma protuberans|giant cell fibroblastoma	http://purl.obolibrary.org/obo/MONDO_0011934	UMLS:C0392784|https://omim.org/entry/607907|Orphanet:31112|DOID:3507|http://identifiers.org/mesh/D018223|http://identifiers.org/snomedct/276799004|NCIT:C4683	gard_rare|ordo_disease
PATO:0001402	biolink:NamedThing	multipotent	A cellular potency that is the capacity to form multiple differentiated cell types.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001402		
MONDO:0008303	biolink:Disease	familial male-limited precocious puberty	Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.	MedDRA:10063656|MedDRA:10063654|OMIM:176410|UMLS:C1504412|Orphanet:3000|DOID:0111545|GARD:0004475|SCTID:237818003	mondo.json	precocious puberty, male-limited|peripheral precocious puberty caused by mutation in LHCGR|sexual precocity, familial, gonadotropin-independent|familial gonadotropin-independent male-limited sexual precocity|testotoxicosis|testotoxicosis, familial|FMPP|precocious puberty, male limited|male-limited precocious puberty|LHCGR peripheral precocious puberty|familial Testotoxicosis (subtype)|leydig cell adenoma, somatic, with precocious puberty|Leydig cell adenoma, somatic, with male-limited precocious puberty|precocious puberty, male|pubertas praecox	http://purl.obolibrary.org/obo/MONDO_0008303	http://identifiers.org/snomedct/237818003|UMLS:C1504412|Orphanet:3000|https://omim.org/entry/176410|DOID:0111545	ordo_disease
MONDO:0011935	biolink:Disease	retinitis pigmentosa 30	Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene.	UMLS:C1842816|OMIM:607921|GARD:0010401|DOID:0110406|ICD10CM:H35.5	mondo.json	RP 30|retinitis pigmentosa type 30|RP30|retinitis pigmentosa 30|macular Degeneration|retinitis pigmentosa caused by mutation in FSCN2|FSCN2 retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0011935	https://omim.org/entry/607921|DOID:0110406|UMLS:C1842816	
HGNC:28027	biolink:NamedThing	WDPCP			mondo.json		http://identifiers.org/hgnc/28027		
MONDO:0008302	biolink:Disease	centra precocious puberty 1	Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene.	UMLS:C3805879|OMIM:176400	mondo.json	central precocious puberty caused by mutation in KISS1R|precocious puberty, central, 1|precocious puberty, central, type 1|CPPB1|KISS1R central precocious puberty	http://purl.obolibrary.org/obo/MONDO_0008302	UMLS:C3805879|https://omim.org/entry/176400	
MONDO:0011932	biolink:Disease	hypotrichosis 6	Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene.	UMLS:C1842839|MESH:C564312|DOID:0110703|OMIM:607903	mondo.json	hypotrichosis, localized, autosomal recessive 1|HYPT6|Lah1|hypotrichosis, localized, autosomal recessive|hypotrichosis 6|hypotrichosis type 6|Htl|hypotrichosis caused by mutation in DSG4|DSG4 hypotrichosis|monilethrix-like hypotrichosis|autosomal recessive localized hypotrichosis	http://purl.obolibrary.org/obo/MONDO_0011932	https://omim.org/entry/607903|http://identifiers.org/mesh/C564312|UMLS:C1842839|DOID:0110703	
PATO:0001400	biolink:NamedThing	unipotent	A cellular potency that is the capacity to produce only one differentiated cell type.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001400		
MONDO:0011933	biolink:Disease	ALG2-congenital disorder of glycosylation	A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.	OMIM:607906|Orphanet:79326|GARD:0009836|DOID:0080561	mondo.json	CDG1I|ALG2-CDG (CDG-II)|CDG Ii|ALG2-congenital disorder of glycosylation|CDG syndrome type Ii|congenital disorder of glycosylation type Ii|CDG 1I|carbohydrate-deficient glycoprotein syndrome type 1I|congenital disorder of glycosylation, type Ii|ALG2-CDG|mannosyltransferase 2 deficiency|congenital disorder of glycosylation type 1i|carbohydrate deficient glycoprotein syndrome type Ii	http://purl.obolibrary.org/obo/MONDO_0011933	https://omim.org/entry/607906|DOID:0080561|Orphanet:79326	ordo_disease
PATO:0001401	biolink:NamedThing	oligopotent	A cellular potency that is the capacity to form multiple differentiated cell types of a specific lineage and lack self renewing capacity.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001401		
MONDO:0008301	biolink:Disease	Guttmacher syndrome	Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.	Orphanet:2957|GARD:0004470|UMLS:C1867801|OMIM:176305|DOID:0111544|MESH:C538278|SCTID:722452004	mondo.json	preaxial deficiency, postaxial polydactyly, and hypospadias|Guttmacher syndrome|autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias|preaxial deficiency-postaxial polydactyly-hypospadias syndrome|preaxial deficiency, postaxial polydactyly and hypospadias	http://purl.obolibrary.org/obo/MONDO_0008301	http://identifiers.org/mesh/C538278|Orphanet:2957|https://omim.org/entry/176305|DOID:0111544|http://identifiers.org/snomedct/722452004|UMLS:C1867801	ordo_malformation_syndrome
MONDO:0008300	biolink:Disease	Prader-Willi syndrome	Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems.	UMLS:C0032897|NCIT:C75463|Orphanet:739|ICD9:759.81|MedDRA:10036476|SCTID:89392001|OMIM:176270|DOID:11983|GARD:0005575|MESH:D011218	mondo.json	Prader-Willi-Labhart syndrome|Willi-Prader syndrome|PWS|Prader-Willi-like syndrome associated with chromosome 6|Prader-Willi syndrome|Prader-Labhart-Willi syndrome|obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet|Prader-Willi syndrome chromosome region|Prader Willi syndrome|obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet	http://purl.obolibrary.org/obo/MONDO_0008300	UMLS:C0032897|https://omim.org/entry/176270|NCIT:C75463|http://identifiers.org/mesh/D011218|Orphanet:739|http://identifiers.org/snomedct/89392001|DOID:11983	gard_rare|ordo_disease
MONDO:0011938	biolink:Disease	atrial septal defect 2	Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene.	MESH:C538263|UMLS:C1842778|OMIM:607941|DOID:0110107	mondo.json	atrial heart septal defect type 2|ASD2|atrial heart septal defect caused by mutation in GATA4|atrial septal defect 2|atrial septal defect type 2|GATA4 atrial heart septal defect	http://purl.obolibrary.org/obo/MONDO_0011938	http://identifiers.org/mesh/C538263|https://omim.org/entry/607941|DOID:0110107|UMLS:C1842778	
PATO:0001406	biolink:NamedThing	binucleate	A nucleate quality inhering in a bearer by virtue of the bearer's having two nuclei.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001406		
MONDO:0011939	biolink:Disease	Spondyloenchondrodysplasia with immune dysregulation		MESH:C564307|SCTID:703523004|OMIM:271550|Orphanet:50816|SCTID:254079002|ICD9:759.89|EFO:0002326|GARD:0004978|MESH:C535782|OMIM:607944|ICD9:756.9|UMLS:C0432222|UMLS:C1842763|Orphanet:1855	mondo.json	combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|SPENCD|spondyloenchondrodysplasia with immune dysregulation|spondylometaphyseal dysplasia with combined immunodeficiency|spondylometaphyseal dysplasia with enchondromatous changes|SPENCDI|spondyloenchondromatosis|spondyloenchondrodysplasia|Spondyloenchondrodysplasia with immune dysregulation|Roifman Immunoskeletal syndrome|SEM	http://purl.obolibrary.org/obo/MONDO_0011939	https://omim.org/entry/607944|Orphanet:50816|https://omim.org/entry/271550|Orphanet:1855|http://identifiers.org/snomedct/703523004|http://identifiers.org/mesh/C564307|UMLS:C1842763	ordo_malformation_syndrome|gard_rare
PATO:0001407	biolink:NamedThing	mononucleate	A nucleate quality inhering in a bearer by virtue of the bearer's having one nucleus.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001407		
PATO:0001404	biolink:NamedThing	nucleate quality	A cellular quality inhering in a bearer by virtue of bearer's number of nuclei.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001404		
MONDO:0011936	biolink:Disease	microphthalmia with brain and digit anomalies	Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.	Orphanet:139471|GARD:0003645|SCTID:721878003|OMIM:607932|MESH:C566440|UMLS:C1864689|UMLS:C4303070	mondo.json	microphthalmia syndromic 6|Bakrania-Ragge syndrome|anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia|microphthalmia, syndromic type 6|MCOPS6|microphthalmia and pituitary anomalies|syndromic microphthalmia type 6|microphthalmia, syndromic 6|microphthalmia with brain and digit developmental anomalies|microphthalmia with brain and digit anomalies|anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia	http://purl.obolibrary.org/obo/MONDO_0011936	https://omim.org/entry/607932|http://identifiers.org/mesh/C566440|UMLS:C4303070|Orphanet:139471|UMLS:C1864689|http://identifiers.org/snomedct/721878003	ordo_malformation_syndrome
MONDO:0011937	biolink:Disease	peeling skin syndrome 4	Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene.	OMIM:607936|UMLS:C4225407|MESH:C564309|UMLS:C1842797	mondo.json	ichthyosis bullosa of Siemens-like|CSTA peeling skin syndrome|peeling skin syndrome 4|peeling skin syndrome type 4|ichthyosis, exfoliative, autosomal recessive|PSS4|peeling skin syndrome caused by mutation in CSTA	http://purl.obolibrary.org/obo/MONDO_0011937	https://omim.org/entry/607936|UMLS:C4225407|http://identifiers.org/mesh/C564309|UMLS:C1842797	
PATO:0001405	biolink:NamedThing	anucleate	A nucleate quality inhering in a bearer by virtue of the bearer's having no nucleus.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001405		
MONDO:0011941	biolink:Disease	mycobacterium tuberculosis, susceptibility to, 1		OMIM:607949	mondo.json	Mycobacterium tuberculosis, susceptibility to, type 1|tuberculosis, susceptibility to|mycobacterium tuberculosis, susceptibility to, 1|MTBS1	http://purl.obolibrary.org/obo/MONDO_0011941	https://omim.org/entry/607949	predisposition
MONDO:0011942	biolink:Disease	systemic lupus erythematosus with nephritis, susceptibility to, 1		OMIM:607965	mondo.json	systemic lupus erythematosus with nephritis, susceptibility to, 1|SLEN1	http://purl.obolibrary.org/obo/MONDO_0011942	https://omim.org/entry/607965	predisposition
CHR:9606-chr20p	biolink:NamedThing	20p (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr20p		
UBERON:0005162	biolink:AnatomicalEntity	multi cell part structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005162		
CHR:9606-chr20q	biolink:NamedThing	20q (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr20q		
MONDO:0011940	biolink:Disease	mycobacterium tuberculosis, susceptibility to		MESH:C536092|GARD:0002456|OMIM:607948	mondo.json	Mycobacterium tuberculosis, protection against|Mycobacterium tuberculosis, susceptibility to infection by|tuberculosis infection, protection against|mycobacterium tuberculosis, susceptibility to|tuberculosis, protection against|tuberculosis, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0011940	http://identifiers.org/mesh/C536092|https://omim.org/entry/607948	predisposition|obsoletion_candidate|gard_rare
UBERON:0005160	biolink:AnatomicalEntity	vestigial structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005160		
NCBITaxon:55872	biolink:OrganismalEntity	Dracunculoidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_55872		
MONDO:0033312	biolink:Disease	schizophrenia 19		DOID:0080281|UMLS:CN404275|OMIM:617629	mondo.json	SCZD19|schizophrenia 19 with or without an affective disorder|schizophrenia 19|schizophrenia 19, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0033312	DOID:0080281|https://omim.org/entry/617629|UMLS:CN404275	
MONDO:0033311	biolink:Disease	Joubert syndrome 33		OMIM:617767|DOID:0080279|UMLS:CN601375	mondo.json	Joubert syndrome 33|JBTS33	http://purl.obolibrary.org/obo/MONDO_0033311	DOID:0080279|https://omim.org/entry/617767|UMLS:CN601375	
MONDO:0033310	biolink:Disease	Joubert syndrome 31		DOID:0080277|OMIM:617761	mondo.json	JBTS31|Joubert syndrome 31	http://purl.obolibrary.org/obo/MONDO_0033310	DOID:0080277|https://omim.org/entry/617761	
UBERON:0005169	biolink:AnatomicalEntity	interstitial tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005169		
MONDO:0021331	biolink:Disease	carcinoma of parotid gland	A carcinoma that involves the parotid gland.	UMLS:C0345602|SCTID:254462001|EFO:1000460|NCIT:C6791	mondo.json	carcinoma of parotid gland|parotid gland cancer|parotid carcinoma|carcinoma of the parotid gland|carcinoma of the parotid|parotid gland carcinoma|carcinoma of parotid	http://purl.obolibrary.org/obo/MONDO_0021331	http://identifiers.org/snomedct/254462001|UMLS:C0345602|NCIT:C6791	
MONDO:0021333	biolink:Disease	carcinoma of lip	A carcinoma that involves the lip.	UMLS:C0149637|SCTID:269515006|NCIT:C3490	mondo.json	carcinoma of lip|lip cancer|carcinoma of the Lip|lip carcinoma	http://purl.obolibrary.org/obo/MONDO_0021333	UMLS:C0149637|NCIT:C3490|http://identifiers.org/snomedct/269515006	
MONDO:0021334	biolink:Disease	immunoproliferative disorder	Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins.	MESH:D007160|SCTID:127071007|ICD9:203.80|UMLS:C0021070	mondo.json	Immunoproliferative disease|Immunoproliferative Disorders|Immunoproliferative Disorder|immunoproliferative disorder|Disorder, Immunoproliferative|Immunoproliferative disorder|Disorders, Immunoproliferative	http://purl.obolibrary.org/obo/MONDO_0021334	http://identifiers.org/mesh/D007160|http://identifiers.org/snomedct/127071007|UMLS:C0021070	
HGNC:31648	biolink:NamedThing	MIR96			mondo.json		http://identifiers.org/hgnc/31648		
MONDO:0021335	biolink:Disease	carcinoma of duodenum	A carcinoma that involves the duodenum.	SCTID:254570009|NCIT:C4803	mondo.json	cancer of duodenum|cancer of the duodenum|carcinoma of the duodenum|duodenal cancer|carcinoma of duodenum|duodenal carcinoma|duodenum carcinoma	http://purl.obolibrary.org/obo/MONDO_0021335	http://identifiers.org/snomedct/254570009|NCIT:C4803	
MONDO:0008359	biolink:Disease	radio-renal syndrome	Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.	UMLS:C2931146|GARD:0000224|Orphanet:3015|MESH:C536267|OMIM:179280|SCTID:766765009	mondo.json	radial-renal syndrome|radio renal syndrome	http://purl.obolibrary.org/obo/MONDO_0008359	http://identifiers.org/mesh/C536267|UMLS:C2931146|Orphanet:3015|https://omim.org/entry/179280|http://identifiers.org/snomedct/766765009	gard_rare|ordo_malformation_syndrome
MONDO:0008358	biolink:Disease	radial ray hypoplasia-choanal atresia syndrome	Radial ray hypoplasia - choanal atresia is an extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus.	Orphanet:3026|OMIM:179270|SCTID:232373003|GARD:0004627	mondo.json	radial ray hypoplasia and choanal atresia|Goldblatt-Viljoen syndrome|radial RAY hypoplasia with choanal atresia|radial ray hypoplasia choanal atresia	http://purl.obolibrary.org/obo/MONDO_0008358	Orphanet:3026|https://omim.org/entry/179270|http://identifiers.org/snomedct/232373003	ordo_malformation_syndrome
MONDO:0008357	biolink:Disease	radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome	A syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.	OMIM:179250|SCTID:716092007|Orphanet:2252|MESH:C536262|GARD:0004626|GARD:0000258	mondo.json	Schmitt-Gillenwater-Kelly syndrome|Schmitt Gillenwater Kelly syndrome|radial hypoplasia, triphalangeal thumbs and hypospadias|radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema|radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema	http://purl.obolibrary.org/obo/MONDO_0008357	https://omim.org/entry/179250|Orphanet:2252|http://identifiers.org/snomedct/716092007|http://identifiers.org/mesh/C536262	ordo_malformation_syndrome|gard_rare
MONDO:0008356	biolink:Disease	radial heads, posterior dislocation of		MESH:C566728|UMLS:C1867398|OMIM:179200	mondo.json	radial heads, posterior dislocation of	http://purl.obolibrary.org/obo/MONDO_0008356	http://identifiers.org/mesh/C566728|UMLS:C1867398|https://omim.org/entry/179200	
MONDO:0008355	biolink:Disease	pyloric stenosis, infantile hypertrophic, 1		OMIM:179010|UMLS:C1867403	mondo.json	pyloric stenosis, infantile hypertrophic, 1|IHPS1|pyloric stenosis, infantile|pyloric stenosis, infantile hypertrophic 1, multifactorial|pyloric stenosis, infantile hypertrophic	http://purl.obolibrary.org/obo/MONDO_0008355	UMLS:C1867403|https://omim.org/entry/179010	
MONDO:0008354	biolink:Disease	purpura simplex		SCTID:277791008|UMLS:C0272309|GARD:0007508|ICD9:287.2|OMIM:179000|MESH:C536249	mondo.json	purpura simplex	http://purl.obolibrary.org/obo/MONDO_0008354	http://identifiers.org/snomedct/277791008|https://omim.org/entry/179000|UMLS:C0272309|http://identifiers.org/mesh/C536249	
MONDO:0008353	biolink:Disease	pruritic urticarial papules and plaques of pregnancy		GARD:0009635|MESH:C535817|SCTID:88697005|Orphanet:64745|ICD9:692.9|OMIM:178995|ICD9:646.80|MedDRA:10066100	mondo.json	polymorphic eruption of pregnancy|pruritic urticarial papules and plaques of pregnancy, familial (subtype)|PUPPP|pruritic urticarial papules plaques of pregnancy|pruritic urticarial papules and plaques of pregnancy	http://purl.obolibrary.org/obo/MONDO_0008353	http://identifiers.org/mesh/C535817|Orphanet:64745|https://omim.org/entry/178995|http://identifiers.org/snomedct/88697005	ordo_disease
NCBITaxon:2508209	biolink:OrganismalEntity	Tobaniviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2508209		
MONDO:0008352	biolink:Disease	pupillary membrane, persistence of		OMIM:178900|MESH:C562700	mondo.json	pupillary membrane, persistence of	http://purl.obolibrary.org/obo/MONDO_0008352	http://identifiers.org/mesh/C562700|https://omim.org/entry/178900	
GO:0043891	biolink:NamedThing	glyceraldehyde-3-phosphate dehydrogenase (NAD(P)+) (phosphorylating) activity	Catalysis of the reaction: D-glyceraldehyde 3-phosphate + phosphate + NAD(P)+ = 3-phospho-D-glyceroyl phosphate + NAD(P)H + H+.		mondo.json	triosephosphate dehydrogenase (NAD(P)+)|glyceraldehyde-3-phosphate dehydrogenase (NAD(P)) (phosphorylating)|NAD(P)-dependent glyceraldehyde-3-phosphate dehydrogenase activity|D-glyceraldehyde 3-phosphate:NAD(P)+ oxidoreductase (phosphorylating)|triosephosphate dehydrogenase (NAD(P))	http://purl.obolibrary.org/obo/GO_0043891		
MONDO:0008351	biolink:Disease	obsolete pupil, egg-shaped		MESH:C566731|GARD:0008291|OMIM:178800	mondo.json	ovoid pupils|pupil, egg-shaped|egg shaped pupils	http://purl.obolibrary.org/obo/MONDO_0008351	https://omim.org/entry/178800|http://identifiers.org/mesh/C566731	
MONDO:0008350	biolink:Disease	pulmonic stenosis and deafness		UMLS:C1867406|OMIM:178651	mondo.json	pulmonic stenosis and deafness	http://purl.obolibrary.org/obo/MONDO_0008350	https://omim.org/entry/178651|UMLS:C1867406	
MONDO:0021326	biolink:Disease	malignant neoplasm of cervical esophagus	A cancer that involves the cervical part of esophagus.	SCTID:187722004|UMLS:C0496773|ICD9:150.0|NCIT:C4763	mondo.json	cervical part of esophagus cancer|malignant neoplasm of cervical part of esophagus|malignant cervical part of esophagus neoplasm|malignant neoplasm of the cervical esophagus|cancer of cervical part of esophagus	http://purl.obolibrary.org/obo/MONDO_0021326	UMLS:C0496773|NCIT:C4763|http://identifiers.org/snomedct/187722004	
MONDO:0021327	biolink:Disease	carcinoma of urethra	A carcinoma that involves the urethra.	SCTID:448954003|NCIT:C9106	mondo.json	urethra carcinoma|urethral carcinoma|urethral cancer|carcinoma of urethra|carcinoma of the urethra	http://purl.obolibrary.org/obo/MONDO_0021327	NCIT:C9106|http://identifiers.org/snomedct/448954003	
MONDO:0021329	biolink:Disease	carcinoma of soft palate	A carcinoma that arises from the soft palate. The majority are squamous cell carcinomas.	NCIT:C8395|SCTID:254435009|UMLS:C0345555	mondo.json	soft palate cancer|carcinoma of the soft palate|carcinoma of soft palate|soft palate carcinoma	http://purl.obolibrary.org/obo/MONDO_0021329	http://identifiers.org/snomedct/254435009|UMLS:C0345555|NCIT:C8395	
HGNC:18674	biolink:NamedThing	DDX41			mondo.json		http://identifiers.org/hgnc/18674		
HGNC:18672	biolink:NamedThing	CDK5RAP2			mondo.json		http://identifiers.org/hgnc/18672		
FOODON:03400129	biolink:NamedThing	refined or partially-refined food product (us cfr)	Extract, concentrate or isolate derived from a food source through one or more refining steps (see *EXTRACT, CONCENTRATE OR ISOLATE OF PLANT OR ANIMAL*) and marketed as such. [FDA CFSAN 1995]	http://www.langual.org/langual_thesaurus.asp?termid=A0129	mondo.json		http://purl.obolibrary.org/obo/FOODON_03400129		
MONDO:0021320	biolink:Disease	malignant tumor of floor of mouth	A cancer that involves the mouth floor.	SCTID:363385007|ICD9:144.8|NCIT:C9318|ICD9:144.9	mondo.json	cancer of mouth floor|mouth floor cancer|malignant tumor of the floor of the mouth|malignant mouth floor neoplasm|malignant floor of mouth neoplasm|malignant neoplasm of the floor of the mouth|malignant neoplasm of mouth floor|malignant neoplasm of floor of mouth|malignant floor of the mouth neoplasm|malignant floor of the mouth tumor|malignant floor of mouth tumor	http://purl.obolibrary.org/obo/MONDO_0021320	NCIT:C9318|http://identifiers.org/snomedct/363385007	
FOODON:03412115	biolink:NamedThing	echinoderm	Echinoderm is the common name given to any member of the phylum *Echinodermata* of marine animals. The adults are recognizable by their (usually five-point) radial symmetry, and include such well-known animals as sea stars, sea urchins, sand dollars, and sea cucumbers, as well as the sea lilies or "stone lilies". [https://en.wikipedia.org/wiki/Echinoderm]		mondo.json	Echinodermata Klein, 1734|Echinodermata	http://purl.obolibrary.org/obo/FOODON_03412115		
MONDO:0021321	biolink:Disease	malignant tumor of extrahepatic bile duct	A cancer that involves the extrahepatic bile duct.	SCTID:363416002|ICD9:156.8|UMLS:C0153453|ICD9:156.1|NCIT:C7483	mondo.json	malignant tumor of the extrahepatic bile duct|malignant extrahepatic bile duct neoplasm|malignant neoplasm of extrahepatic bile duct|extrahepatic bile duct cancer|cancer of extrahepatic bile duct|malignant neoplasm of the extrahepatic bile duct|malignant extrahepatic bile duct tumor	http://purl.obolibrary.org/obo/MONDO_0021321	UMLS:C0153453|NCIT:C7483|http://identifiers.org/snomedct/363416002	
MONDO:0021322	biolink:Disease	malignant tumor of meninges	A cancer that involves the meningeal cluster.	SCTID:363497007|UMLS:C0348375|NCIT:C4628	mondo.json	malignant neoplasm of meningeal cluster|meningeal cluster cancer|cancer of meninges|malignant meningeal cluster neoplasm|cancer of the meninges|malignant meningeal tumor|malignant tumor of the meninges|malignant meningeal neoplasms|malignant neoplasms of meninges|cancer of meningeal cluster|meningeal cancer|malignant meninges neoplasm|malignant neoplasm of meninges|meningeal tumors, malignant|malignant neoplasm of the meninges|malignant meninges tumor	http://purl.obolibrary.org/obo/MONDO_0021322	UMLS:C0348375|NCIT:C4628|http://identifiers.org/snomedct/363497007	
FOODON:03412112	biolink:NamedThing	mollusc	*Mollusca* is a large phylum of invertebrate animals whose members are known as molluscs or mollusks. Molluscs are the largest marine phylum, comprising about 23% of all the named marine organisms. Numerous molluscs also live in freshwater and terrestrial habitats. [https://en.wikipedia.org/wiki/Mollusca]		mondo.json	mollusk|Mollusca	http://purl.obolibrary.org/obo/FOODON_03412112		
MONDO:0021323	biolink:Disease	malignant neoplasm of chest wall	A cancer that involves the chest wall.	UMLS:C0346948|NCIT:C4580|SCTID:712750007	mondo.json	malignant chest wall tumor|malignant neoplasm of the chest wall|malignant neoplasm of chest wall|malignant tumor of chest wall|malignant chest wall neoplasm|malignant tumor of the chest wall|cancer of chest wall|chest wall cancer	http://purl.obolibrary.org/obo/MONDO_0021323	http://identifiers.org/snomedct/712750007|NCIT:C4580|UMLS:C0346948	
MONDO:0021324	biolink:Disease	malignant neoplasm of abdominal esophagus	A cancer that involves the abdominal part of esophagus.	SCTID:187724003|ICD9:150.2|NCIT:C4764|UMLS:C0496775	mondo.json	malignant neoplasm of abdominal part of esophagus|malignant neoplasm of the abdominal esophagus|abdominal part of esophagus cancer|cancer of abdominal part of esophagus|malignant tumor of the abdominal esophagus|malignant abdominal part of esophagus neoplasm	http://purl.obolibrary.org/obo/MONDO_0021324	NCIT:C4764|UMLS:C0496775|http://identifiers.org/snomedct/187724003	
MONDO:0021325	biolink:Disease	malignant neoplasm of thoracic esophagus	A cancer that involves the thoracic part of esophagus.	ICD9:150.1|NCIT:C3532|SCTID:187723009|UMLS:C0153411	mondo.json	malignant thoracic part of esophagus neoplasm|malignant neoplasm of the thoracic esophagus|cancer of thoracic part of esophagus|thoracic part of esophagus cancer|malignant neoplasm of thoracic part of esophagus	http://purl.obolibrary.org/obo/MONDO_0021325	UMLS:C0153411|NCIT:C3532|http://identifiers.org/snomedct/187723009	
MONDO:0008369	biolink:Disease	proximal renal tubular acidosis	Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.	Orphanet:47159|SCTID:24790002|ICD9:588.89|OMIM:179830|MedDRA:10037080	mondo.json	renal tubular acidosis, proximal|RTA, rate type|Type 2 renal tubular acidosis|renal tubular acidosis type 2|pRTA|Type 2 RTA|renal tubular acidosis 2|RTA, proximal type	http://purl.obolibrary.org/obo/MONDO_0008369	http://identifiers.org/snomedct/24790002|Orphanet:47159|https://omim.org/entry/179830	ordo_disease
MONDO:0008368	biolink:Disease	autosomal dominant distal renal tubular acidosis	Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia.	Orphanet:93608|OMIM:179800|GARD:0004668	mondo.json	autosomal dominant SLC4A1-associated distal renal tubular acidosis|distal renal tubular acidosis (disease), autosomal dominant|RTA, distal type, autosomal dominant|renal tubular acidosis 1|RTA, classic type|AD dRTA|renal tubular acidosis, distal, autosomal dominant|RTA, gradient type|autosomal dominant distal renal tubular acidosis (disease)|distal renal tubular acidosis 1	http://purl.obolibrary.org/obo/MONDO_0008368	Orphanet:93608|https://omim.org/entry/179800	ordo_clinical_subtype
MONDO:0011998	biolink:Disease	autosomal dominant slowed nerve conduction velocity	Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.	UMLS:C1842357|OMIM:608236|SCTID:764854006|MESH:C564269|Orphanet:140481	mondo.json	slowed nerve conduction velocity, autosomal dominant|slowed nerve conduction velocity, AD|autosomal dominant slowed nerve conduction velocity|SNCV	http://purl.obolibrary.org/obo/MONDO_0011998	https://omim.org/entry/608236|http://identifiers.org/snomedct/764854006|Orphanet:140481|UMLS:C1842357|http://identifiers.org/mesh/C564269	ordo_disease
MONDO:0008367	biolink:Disease	red cell phospholipid defect with hemolysis		MESH:C535298|OMIM:179700|UMLS:C1867339|GARD:0010013	mondo.json	red cell phospholipid defect with hemolysis|HPCHA|leaky Red cell syndrome|phosphatidylcholine Red cell Membrane disorder|high Red cell phosphatidylcholine hemolytic Anemia	http://purl.obolibrary.org/obo/MONDO_0008367	UMLS:C1867339|https://omim.org/entry/179700|http://identifiers.org/mesh/C535298	gard_rare
MONDO:0011999	biolink:Disease	otosclerosis 3		OMIM:608244|MESH:C564268|UMLS:C1842353	mondo.json	OTSC3|otosclerosis 3	http://purl.obolibrary.org/obo/MONDO_0011999	https://omim.org/entry/608244|http://identifiers.org/mesh/C564268|UMLS:C1842353	
MONDO:0008366	biolink:Disease	red cell permeability defect		UMLS:C1867340|OMIM:179650	mondo.json	red cell permeability defect|elliptocytosis with transverse slitlike changes	http://purl.obolibrary.org/obo/MONDO_0008366	https://omim.org/entry/179650|UMLS:C1867340	
MONDO:0008365	biolink:Disease	recombinant 8 syndrome	Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.	GARD:0009698|MESH:C535296|OMIM:179613|Orphanet:96167|SCTID:718189004|UMLS:C0795822	mondo.json	San Luis Valley syndrome|San Luis Valley recombinant chromosome 8 syndrome|Rec(8) syndrome|Duplication 8q/deletion 8p|chromosome 8Q22.1-qter Duplication and 8Pter-p23.1 deletion|Recombinant chromosome 8 syndrome|Rec8 syndrome|RECOMBINANT chromosome 8 syndrome	http://purl.obolibrary.org/obo/MONDO_0008365	http://identifiers.org/snomedct/718189004|https://omim.org/entry/179613|UMLS:C0795822|Orphanet:96167|http://identifiers.org/mesh/C535296	ordo_malformation_syndrome
MONDO:0008364	biolink:Disease	Raynaud disease	An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease.	ICD9:443.0|MESH:D011928|UMLS:C0034734|ICD10CM:I73.0|OMIM:179600|NCIT:C116359|EFO:1001145|SCTID:195295006|DOID:10300	mondo.json	Raynaud syndrome|Raynaud's disease|Raynaud's syndrome (disorder) [ambiguous]|secondary Raynaud disease|secondary Raynaud's phenomenon|Raynaud's syndrome|secondary Raynaud's disease|secondary Raynaud phenomenon|Raynaud disease|cold fingers, hereditary	http://purl.obolibrary.org/obo/MONDO_0008364	http://identifiers.org/mesh/D011928|UMLS:C0034734|DOID:10300|https://omim.org/entry/179600|http://identifiers.org/snomedct/195295006|NCIT:C116359|http://purl.bioontology.org/ontology/ICD10CM/I73.0	
MONDO:0008363	biolink:Disease	raindrop hypopigmentation		MESH:C566724|OMIM:179500	mondo.json	raindrop hypopigmentation	http://purl.obolibrary.org/obo/MONDO_0008363	https://omim.org/entry/179500|http://identifiers.org/mesh/C566724	
MONDO:0008362	biolink:Disease	ragweed sensitivity		MESH:C566725|OMIM:179450	mondo.json	ragweed sensitivity	http://purl.obolibrary.org/obo/MONDO_0008362	https://omim.org/entry/179450|http://identifiers.org/mesh/C566725	
MONDO:0008361	biolink:Disease	radius, aplasia of, with cleft lip/palate		OMIM:179400|UMLS:C1867395	mondo.json	radius, aplasia of, with cleft lip/palate	http://purl.obolibrary.org/obo/MONDO_0008361	https://omim.org/entry/179400|UMLS:C1867395	
MONDO:0008360	biolink:Disease	obsolete radioulnar synostosis			mondo.json	obsolete radioulnar synostosis (disease)	http://purl.obolibrary.org/obo/MONDO_0008360		
MONDO:0021315	biolink:Disease	malignant tumor of nasopharynx	A cancer that involves the nasopharynx.	UMLS:C0153392|NCIT:C9321|ICD9:147.8|ICD9:147.9|SCTID:187692001|UMLS:C0238301	mondo.json	cancer of nasopharynx|malignant neoplasm of the nasopharynx|nasopharynx cancer|malignant nasopharyngeal tumor|malignant nasopharynx neoplasm|malignant tumor of the nasopharynx|malignant neoplasm of nasopharynx|malignant nasopharyngeal neoplasm	http://purl.obolibrary.org/obo/MONDO_0021315	UMLS:C0153392|http://identifiers.org/snomedct/187692001|UMLS:C0238301|NCIT:C9321	
MONDO:0021316	biolink:Disease	malignant tumor of minor salivary gland	A cancer that involves the minor salivary gland.	SCTID:363485006|NCIT:C4410|UMLS:C0345614	mondo.json	cancer of minor salivary gland|malignant tumor of the minor salivary gland|malignant minor salivary gland neoplasm|malignant neoplasm of minor salivary gland|minor salivary gland cancer|malignant neoplasm of the minor salivary gland|malignant minor salivary gland tumor	http://purl.obolibrary.org/obo/MONDO_0021316	NCIT:C4410|http://identifiers.org/snomedct/363485006|UMLS:C0345614	
MONDO:0021317	biolink:Disease	cancer of cerebellum	A cancer that involves the cerebellum.	ICD9:191.6|NCIT:C3569|SCTID:449420002	mondo.json	malignant cerebellar tumor|cancer of the cerebellum|cerebellar cancer|malignant tumor of cerebellum|malignant tumor of the cerebellum|malignant cerebellar neoplasms|malignant neoplasm of cerebellum|cerebellar tumor, malignant|malignant neoplasm of the cerebellum|cerebellum cancer|cancer of cerebellum|cerebellar neoplasm, malignant|malignant cerebellar neoplasm|malignant cerebellum neoplasm	http://purl.obolibrary.org/obo/MONDO_0021317	NCIT:C3569|http://identifiers.org/snomedct/449420002	
HGNC:18688	biolink:NamedThing	CRB2			mondo.json		http://identifiers.org/hgnc/18688		
HGNC:18683	biolink:NamedThing	EIF4A3			mondo.json		http://identifiers.org/hgnc/18683		
FOODON:03400139	biolink:NamedThing	multicomponent meal (us cfr)	A multiple-component food product typically containing a protein source, a vegetable, and a potato, rice or cereal-based component packaged to be served after heating, either as separate items or courses or mixed as recipe components; see 21 CFR 102.26, 102.28 and 104.47 for nutritional quality guidelines.	http://www.langual.org/langual_thesaurus.asp?termid=A0139	mondo.json		http://purl.obolibrary.org/obo/FOODON_03400139		
MONDO:0021310	biolink:Disease	malignant tumor of neck	A cancer that involves the neck.	SCTID:363489000|UMLS:C0746787|NCIT:C4940	mondo.json	malignant neoplasm of neck|malignant neck tumor|malignant neoplasm of the neck|cancer of neck|malignant neck neoplasm|neck cancer|cancer of the neck|malignant tumor of the neck	http://purl.obolibrary.org/obo/MONDO_0021310	UMLS:C0746787|NCIT:C4940|http://identifiers.org/snomedct/363489000	
MONDO:0021311	biolink:Disease	malignant tumor of parathyroid gland	A cancer that involves the parathyroid gland.	ICD9:194.1|SCTID:363481002|ONCOTREE:PTH|NCIT:C9322	mondo.json	malignant neoplasm of parathyroid|malignant parathyroid tumor|malignant parathyroid neoplasm|malignant parathyroid gland neoplasm|malignant tumor of the parathyroid gland|malignant neoplasm of parathyroid gland|parathyroid cancer|malignant tumor of the parathyroid|parathyroid gland cancer|malignant tumor of parathyroid|cancer of parathyroid gland|malignant neoplasm of the parathyroid gland|malignant parathyroid gland tumor|malignant neoplasm of the parathyroid	http://purl.obolibrary.org/obo/MONDO_0021311	NCIT:C9322|http://identifiers.org/snomedct/363481002	
MONDO:0021312	biolink:Disease	malignant tumor of adrenal cortex	A cancer that involves the adrenal cortex.	NCIT:C9327|SCTID:371964008	mondo.json	malignant adrenal cortex tumor|malignant neoplasm of the adrenal cortex|malignant neoplasm of adrenal cortex|adrenal cortex cancer|malignant adrenocortical neoplasm|malignant adrenal cortex neoplasm|malignant adrenocortical tumor|cancer of adrenal cortex|malignant tumor of the adrenal cortex	http://purl.obolibrary.org/obo/MONDO_0021312	NCIT:C9327|http://identifiers.org/snomedct/371964008	
MONDO:0008339	biolink:Disease	antecubital pterygium syndrome		OMIM:178200|UMLS:C1867439|Orphanet:2987|MESH:C566738|GARD:0004570	mondo.json	antecubital pterygium|pterygium antecubital|antecubital pterygium syndrome|pterygium, antecubital	http://purl.obolibrary.org/obo/MONDO_0008339	Orphanet:2987|http://identifiers.org/mesh/C566738|UMLS:C1867439|https://omim.org/entry/178200	clingen|ordo_malformation_syndrome
MONDO:0021313	biolink:Disease	eyelid cancer	A cancer that involves the eyelid.	ICD9:173.1|SCTID:231829006|NCIT:C6786	mondo.json	malignant eyelid neoplasm|cancer of eyelid|malignant tumor of eyelid|malignant tumor of the eyelid|malignant neoplasm of eyelid|malignant eyelid tumor|malignant neoplasm of the eyelid|eyelid cancer	http://purl.obolibrary.org/obo/MONDO_0021313	http://identifiers.org/snomedct/231829006|NCIT:C6786	
MONDO:0008338	biolink:Disease	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A		OMIM:178110|GARD:0013058|Orphanet:65743|MESH:C566739|UMLS:C1867440	mondo.json	DA8|pterygium syndrome, multiple, autosomal dominant|contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A|distal arthrogryposis type 8|arthrogryposis, distal, type 8|multiple pterygium syndrome, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008338	http://identifiers.org/mesh/C566739|UMLS:C1867440|Orphanet:65743|https://omim.org/entry/178110	gard_rare|ordo_malformation_syndrome
MONDO:0011989	biolink:Disease	leishmaniasis	Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration).	ICD9:085.9|MedDRA:10024198|EFO:0005044|UMLS:C0023281|GARD:0006881|MESH:D007896|SCTID:80612004|NCIT:C34767|DOID:9065|Orphanet:507|ICD9:085|ICD10CM:B55	mondo.json	post-kala-azar dermal infectious disease by leishmaniasis|post-kala-azar dermal leishmaniasis|post kala-Azar dermal leishmaniasis|visceral leishmaniasis (subtype)|cutaneous leishmaniasis (subtype)	http://purl.obolibrary.org/obo/MONDO_0011989	UMLS:C0023281|http://identifiers.org/mesh/D007896|DOID:9065|http://identifiers.org/snomedct/80612004|NCIT:C34767|Orphanet:507|http://purl.bioontology.org/ontology/ICD10CM/B55	ordo_disease
MONDO:0008337	biolink:Disease	familial pterygium of the conjunctiva	Familial pterygium of the conjunctiva is a rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision.	UMLS:C1867441|OMIM:178000|GARD:0004569|Orphanet:2989|MESH:C566740|ICD10CM:H11.0	mondo.json	pterygium of conjunctiva and cornea|pterygium of the conjunctiva and cornea	http://purl.obolibrary.org/obo/MONDO_0008337	Orphanet:2989|http://identifiers.org/mesh/C566740|UMLS:C1867441|https://omim.org/entry/178000	ordo_morphological_anomaly
MONDO:0008336	biolink:Disease	pterygium colli, isolated		UMLS:C1867442|OMIM:177990|MESH:C566741	mondo.json	pterygium colli, isolated	http://purl.obolibrary.org/obo/MONDO_0008336	https://omim.org/entry/177990|http://identifiers.org/mesh/C566741|UMLS:C1867442	
MONDO:0008335	biolink:Disease	short stature-craniofacial anomalies-genital hypoplasia syndrome	Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p.	OMIM:177980|MESH:C535844|UMLS:C1867443|SCTID:716090004|Orphanet:2994|GARD:0002605	mondo.json	pterygia, intellectual disability, and distinctive craniofacial features|Haspeslagh-Fryns-Muelenaere syndrome|pterygia, mental retardation and distinctive craniofacial features|Haspeslagh syndrome|pterygia, mental retardation, and distinctive craniofacial features|pterygia, intellectual disability and distinctive craniofacial features|pterygia mental retardation facial dysmorphism|pterygia intellectual disability facial dysmorphism	http://purl.obolibrary.org/obo/MONDO_0008335	Orphanet:2994|https://omim.org/entry/177980|http://identifiers.org/snomedct/716090004|UMLS:C1867443|http://identifiers.org/mesh/C535844	ordo_malformation_syndrome
MONDO:0011987	biolink:Disease	cone-rod dystrophy 13	Any cone-rod dystrophy in which the cause of the disease is a mutation in the RPGRIP1 gene.	DOID:0111016|OMIM:608194|UMLS:C2750720|MESH:C567698	mondo.json	RPGRIP1 cone-rod dystrophy|cone-rod dystrophy caused by mutation in RPGRIP1|CORD13|cone-rod dystrophy type 13|cone-rod dystrophy 13	http://purl.obolibrary.org/obo/MONDO_0011987	UMLS:C2750720|https://omim.org/entry/608194|http://identifiers.org/mesh/C567698|DOID:0111016	
MONDO:0011988	biolink:Disease	neutrophil immunodeficiency syndrome	A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.	MESH:C564275|OMIM:608203|SCTID:723443003|UMLS:C1842398|Orphanet:183707	mondo.json	neutrophil immunodeficiency syndrome|immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis	http://purl.obolibrary.org/obo/MONDO_0011988	https://omim.org/entry/608203|Orphanet:183707|http://identifiers.org/snomedct/723443003|UMLS:C1842398|http://identifiers.org/mesh/C564275	ordo_disease
MONDO:0008334	biolink:Disease	psoriasis 1, susceptibility to	Any psoriasis in which the cause of the disease is a mutation in the HLA-C gene.	OMIM:177900|DOID:0111286	mondo.json	HLA-C psoriasis|susceptibility to psoriasis 1|psoriasis caused by mutation in HLA-C|psoriasis 1, susceptibility to|psoriasis susceptibility 1|PSORS1	http://purl.obolibrary.org/obo/MONDO_0008334	https://omim.org/entry/177900|DOID:0111286	predisposition
MONDO:0008333	biolink:Disease	pseudoxanthoma elasticum, forme fruste	An autosomal dominant form of PXE.	GARD:0010104|OMIM:177850	mondo.json	pseudoxanthoma elasticum, heterozygous|pseudoxanthoma elasticum, forme fruste	http://purl.obolibrary.org/obo/MONDO_0008333	https://omim.org/entry/177850	gard_rare
MONDO:0008332	biolink:Disease	pseudo-von Willebrand disease	Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia.	OMIM:177820|MESH:C536458|Orphanet:52530|GARD:0008312|DOID:0111056|NCIT:C131681	mondo.json	pseudo-von Willebrand disease type 2B|PT-VWD|platelet-type bleeding disorder 3|VWDP|pseudo-von Willebrand disease|pseudo-VON WILLEBRAND disease|platelet type-von Willebrand disease|bleeding disorder, Platelet-type, 3|Von Willebrand disease, platelet type|von Willebrand disease platelet-type|Platelet type-von Willebrand disease|Von Willebrand disease, Platelet-type|BDPLT3|Platelet-type von Willebrand disease	http://purl.obolibrary.org/obo/MONDO_0008332	https://omim.org/entry/177820|DOID:0111056|http://identifiers.org/mesh/C536458|NCIT:C131681|Orphanet:52530	ordo_disease
MONDO:0008331	biolink:Disease	obsolete pseudopapilledema	OBSOLETE. Apparent optic disc swelling in the absence of increased intracranial pressure.	UMLS:C0155300|Orphanet:519339|SCTID:57138009|DOID:1392|OMIM:177800|MESH:C562401|ICD9:377.24	mondo.json	crowded optic disc|pseudopapilledema|obsolete pseudopapilledema (disease)	http://purl.obolibrary.org/obo/MONDO_0008331	https://omim.org/entry/177800|http://identifiers.org/snomedct/57138009|UMLS:C0155300|DOID:1392|Orphanet:519339|http://identifiers.org/mesh/C562401	
MONDO:0008330	biolink:Disease	pseudomonilethrix		SCTID:254229006|MESH:C562988|UMLS:C0432346|OMIM:177750	mondo.json	pseudomonilethrix	http://purl.obolibrary.org/obo/MONDO_0008330	UMLS:C0432346|http://identifiers.org/mesh/C562988|http://identifiers.org/snomedct/254229006|https://omim.org/entry/177750	
MONDO:0011992	biolink:Disease	hereditary spastic paraplegia 25	Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.	SCTID:732933009|OMIM:608220|GARD:0009582|UMLS:C4518003|DOID:0110776|MESH:C536861|Orphanet:101005|UMLS:C2936860	mondo.json	SPG25|spinal disc herniation with autosomal recessive spastic paraplegia|autosomal recessive spastic paraplegia-disc herniation syndrome|spastic paraplegia 25|autosomal recessive spastic paraplegia type 25|Disc herniation with spastic paraplegia, autosomal recessive|spastic paraplegia 25, autosomal recessive|autosomal recessive spastic paraplegia 25|hereditary spastic paraplegia type 25	http://purl.obolibrary.org/obo/MONDO_0011992	https://omim.org/entry/608220|UMLS:C4518003|http://identifiers.org/snomedct/732933009|UMLS:C2936860|http://identifiers.org/mesh/C536861|DOID:0110776|Orphanet:101005	ordo_disease
FOODON:03400148	biolink:NamedThing	milk or milk product (us cfr)	Milk in all forms, milk-based beverage, cultured milk product, or milk or milk product analog. Index infant formula under *MEAL REPLACEMENT*.	http://www.langual.org/langual_thesaurus.asp?termid=A0148	mondo.json		http://purl.obolibrary.org/obo/FOODON_03400148		
MONDO:0011993	biolink:Disease	aspirin resistance		OMIM:608223	mondo.json	aspirin, resistance to Cardioprotective Effect of|aspirin resistance|aspirin, resistance to Antithrombotic Effect of	http://purl.obolibrary.org/obo/MONDO_0011993	https://omim.org/entry/608223	
MONDO:0011990	biolink:Disease	seizures, benign familial neonatal, 3		UMLS:C1842382|OMIM:608217|MESH:C564274	mondo.json	BFNS3|seizures, benign familial neonatal, 3|convulsions, benign familial neonatal, 3	http://purl.obolibrary.org/obo/MONDO_0011990	https://omim.org/entry/608217|UMLS:C1842382|http://identifiers.org/mesh/C564274	
NCBITaxon:55824	biolink:OrganismalEntity	Hirudinea		GC_ID:1	mondo.json	leeches	http://purl.obolibrary.org/obo/NCBITaxon_55824		
MONDO:0011991	biolink:Disease	autosomal recessive nonsyndromic hearing loss 38	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 6q26-q27.	DOID:0110496|UMLS:C1842381|OMIM:608219|MESH:C564273	mondo.json	deafness, autosomal recessive 38|autosomal recessive deafness 38|DFNB38|autosomal recessive nonsyndromic deafness 38|autosomal recessive nonsyndromic deafness type 38	http://purl.obolibrary.org/obo/MONDO_0011991	https://omim.org/entry/608219|UMLS:C1842381|http://identifiers.org/mesh/C564273|DOID:0110496	
MONDO:0011996	biolink:Disease	chronic myelogenous leukemia, BCR-ABL1 positive	A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival.	NCIT:C3177|KEGG:05220|MedDRA:10009013|OMIM:608232|EFO:0000339|DOID:8552|ICDO:9875/3|ICDO:9863/3|UMLS:C0023473|ICD9:205.1|Orphanet:521|GARD:0006105|ONCOTREE:CML|NCIT:C3174	mondo.json	chronic granulocytic leukemia|myeloid leukemia, chronic|leukemia, chronic myeloid, Philadelphia chromosome positive, somatic|chronic myeloid leukemia|chronic myelocytic leukemia|leukemia, chronic myeloid|CML - chronic myelogenous leukemia|CML|BCR-ABL Positive chronic myelogenous leukemia|hematopoeitic - chronic myelocytic leukemia (CML)|chronic myelogenous leukemia, BCR-ABL1 Positive|chronic myelogenous leukemias|leukemia, chronic myeloid, atypical|leukemia, Philadelphia chromosome-positive, resistant to imatinib, Somatic mutation|leukemia, chronic myelogenous|chronic myelogenous leukemia (CML)|chronic myelogenous leukemia	http://purl.obolibrary.org/obo/MONDO_0011996	https://omim.org/entry/608232|NCIT:C3174|DOID:8552|Orphanet:521|UMLS:C0023473	ordo_disease
MONDO:0011997	biolink:Disease	Hermansky-Pudlak syndrome 2	A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.	GARD:0009435|OMIM:608233|ICD10CM:E70.3|MESH:C537709|UMLS:C1842362|DOID:0060540|Orphanet:183678|NCIT:C150368	mondo.json	Hermansky-Pudlak syndrome 2|Hermansky-Pudlak syndrome with neutropenia|Hermansky-Pudlak syndrome type 2|HPS2|AP3B1 Hermansky-Pudlak syndrome|HPS-2|Hermansky Pudlak syndrome 2|Hermansky-Pudlak syndrome caused by mutation in AP3B1|Platelet defects and oculocutaneous albinism	http://purl.obolibrary.org/obo/MONDO_0011997	DOID:0060540|https://omim.org/entry/608233|Orphanet:183678|NCIT:C150368|http://identifiers.org/mesh/C537709|UMLS:C1842362	gard_rare|ordo_clinical_subtype
MONDO:0011994	biolink:Disease	autosomal dominant nonsyndromic hearing loss 41	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene.	OMIM:608224|UMLS:C1842371|DOID:0110567|MESH:C564272	mondo.json	autosomal dominant nonsyndromic deafness type 41|autosomal dominant deafness 41|autosomal dominant nonsyndromic deafness 41|autosomal dominant nonsyndromic deafness caused by mutation in P2RX2|P2RX2 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 41|DFNA41|deafness, autosomal dominant 41	http://purl.obolibrary.org/obo/MONDO_0011994	https://omim.org/entry/608224|http://identifiers.org/mesh/C564272|UMLS:C1842371|DOID:0110567	
HGNC:18658	biolink:NamedThing	NUP205			mondo.json		http://identifiers.org/hgnc/18658		
MONDO:0011995	biolink:Disease	cataract - congenital heart disease - neural tube defect syndrome	Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.	UMLS:C1842363|Orphanet:314993|MESH:C564271|OMIM:608227	mondo.json	craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developintellectual disability|craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation	http://purl.obolibrary.org/obo/MONDO_0011995	Orphanet:314993|https://omim.org/entry/608227|UMLS:C1842363|http://identifiers.org/mesh/C564271	ordo_malformation_syndrome
HGNC:18654	biolink:NamedThing	RTTN			mondo.json		http://identifiers.org/hgnc/18654		
MONDO:0021307	biolink:Disease	obsolete MONDO:0021307			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021307		
MONDO:0021309	biolink:Disease	malignant neoplasm of endocervix	A cancer that involves the endocervix.	SCTID:372097009|ICD10CM:C53.0|ICD9:180.0|NCIT:C3553	mondo.json	malignant endocervical neoplasm|malignant neoplasm of uterine endocervix|malignant uterine endocervix tumor|malignant neoplasm of the uterine endocervix|cancer of endocervix|endocervix cancer|malignant uterine endocervix neoplasm|malignant tumor of endocervix|malignant endocervix neoplasm|malignant tumor of the endocervix|malignant endocervical tumor|malignant tumor of uterine endocervix|malignant tumor of the uterine endocervix|malignant neoplasm of endocervix|malignant endocervix tumor|malignant neoplasm of the endocervix	http://purl.obolibrary.org/obo/MONDO_0021309	http://identifiers.org/snomedct/372097009|http://purl.bioontology.org/ontology/ICD10CM/C53.0|NCIT:C3553	
MONDO:0023961	biolink:Disease	visceral neuropathy, familial		OMIMPS:243180	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023961	https://omim.org/phenotypicSeries/PS243180	
MONDO:0021300	biolink:Disease	adenoid cystic carcinoma of oropharynx	A adenoid cystic carcinoma that involves the oropharynx.	NCIT:C6241|SCTID:423318000|UMLS:C1335139	mondo.json	adenoid cystic carcinoma of the oropharynx|oropharynx adenoid cystic carcinoma|oropharyngeal adenoid cystic carcinoma|oropharyngeal throat adenoid cystic cancer	http://purl.obolibrary.org/obo/MONDO_0021300	NCIT:C6241|http://identifiers.org/snomedct/423318000|UMLS:C1335139	
MONDO:0021301	biolink:Disease	adenoma of nipple	A adenoma that involves the nipple.	ICDO:8506/0|NCIT:C4192|UMLS:C0334378|SCTID:302829009	mondo.json	subareolar duct papillomatosis|papillomatosis, subareolar duct|adenoma of the nipple|nipple adenoma	http://purl.obolibrary.org/obo/MONDO_0021301	NCIT:C4192|UMLS:C0334378|http://identifiers.org/snomedct/302829009	
MONDO:0021303	biolink:Disease	adenoma of small intestine	A adenoma that involves the small intestine.	NCIT:C5340|UMLS:C1302392|SCTID:399422005	mondo.json	small bowel adenoma|small intestine adenoma|adenoma of the small bowel|adenoma of small bowel|small intestinal adenoma|adenoma of the small intestine	http://purl.obolibrary.org/obo/MONDO_0021303	NCIT:C5340|http://identifiers.org/snomedct/399422005|UMLS:C1302392	
MONDO:0008349	biolink:Disease	pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities		MESH:C566733|OMIM:178650|UMLS:C1867407	mondo.json	Ciuffo syndrome|pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities	http://purl.obolibrary.org/obo/MONDO_0008349	http://identifiers.org/mesh/C566733|UMLS:C1867407|https://omim.org/entry/178650	
MONDO:0008348	biolink:Disease	pulmonary nodular lymphoid hyperplasia	Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung.	UMLS:C1334969|UMLS:C1867419|SCTID:718097008|Orphanet:60026|OMIM:178610	mondo.json	pulmonary pseudolymphoma|pulmonary nodular lymphoid hyperplasia, familial	http://purl.obolibrary.org/obo/MONDO_0008348	Orphanet:60026|UMLS:C1867419|http://identifiers.org/snomedct/718097008|https://omim.org/entry/178610|UMLS:C1334969	ordo_disease
MONDO:0011978	biolink:Disease	CoQ-responsive OXPHOS deficiency		UMLS:C1842463|GARD:0010240|OMIM:608158|MESH:C535470	mondo.json	CoQ-responsive oxidative phosphorylation disorder|CoQ-responsive OXPHOS deficiency	http://purl.obolibrary.org/obo/MONDO_0011978	UMLS:C1842463|http://identifiers.org/mesh/C535470|https://omim.org/entry/608158	n_of_one
MONDO:0011979	biolink:Disease	adult-onset foveomacular vitelliform dystrophy	Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.	GARD:0010909|SCTID:232049001|UMLS:C1842914|ICD10CM:H35.5|Orphanet:99000	mondo.json	VMD3|foveomacular dystrophy, adult-onset, with choroidal neovascularization|Gass disease|adult-onset foveomacular dystrophy with choroidal neovascularization|AOFMD|foveomacular dystrophy, adult-onset; AOFMD|macular dystrophy, vitelliform, adult-onset|pseudo-Best disease|pseudo-vitelliform macular dystrophy|adult-onset foveomacular dystrophy|AVMD|adult-onset vitelliform macular dystrophy|macular dystrophy, vitelliform, type 3|macular dystrophy, vitelliform, 3	http://purl.obolibrary.org/obo/MONDO_0011979	UMLS:C1842914|Orphanet:99000|http://identifiers.org/snomedct/232049001	ordo_disease
MONDO:0008347	biolink:Disease	idiopathic and/or familial pulmonary arterial hypertension	Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown.	Orphanet:422|UMLS:CN205068	mondo.json	pulmonary hypertension, primary, 1|idiopathic and/or familial pulmonary arterial hypertension|PPH1|IFPAH|pulmonary hypertension, primary, type 1	http://purl.obolibrary.org/obo/MONDO_0008347	Orphanet:422|UMLS:CN205068	ordo_disease
MONDO:0008346	biolink:Disease	pulmonary hemosiderosis	Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.	ICD10EXP:E83.1+|DOID:10328|OMIM:178550|SCTID:40527005|ICD10EXP:J99.8*|DOID:12118|GARD:0007645|Orphanet:99931|GARD:0006763|ICD9:516.1|MESH:D012806	mondo.json	siderosis|idiopathic pulmonary hemosiderosis|pulmonary siderosis|brown lung|pulmonary hemosiderosis|alveolar hypoventilation syndrome|brown induration	http://purl.obolibrary.org/obo/MONDO_0008346	Orphanet:99931|http://identifiers.org/mesh/D012806|DOID:12118|DOID:10328|https://omim.org/entry/178550|http://identifiers.org/snomedct/40527005	ordo_disease|gard_rare
MONDO:0011976	biolink:Disease	lipodystrophy-intellectual disability-deafness syndrome	Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.	MESH:C564283|Orphanet:50811|SCTID:721973006|OMIM:608154	mondo.json	lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones|Rajab-Spranger syndrome|lipodystrophy, generalized, with intellectual disability, deafness, short stature, and slender bones	http://purl.obolibrary.org/obo/MONDO_0011976	http://identifiers.org/mesh/C564283|https://omim.org/entry/608154|http://identifiers.org/snomedct/721973006|Orphanet:50811	ordo_disease
MONDO:0011977	biolink:Disease	8q22.1 microdeletion syndrome	The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.	GARD:0004722|SCTID:719664004|MESH:C536110|OMIM:608156|Orphanet:178303|UMLS:C1842464	mondo.json	monosomy 8q22.1|chromosome 8Q22.1 deletion syndrome|NMLFS|NABLUS mask-like facial syndrome|Nablus mask-like facial syndrome	http://purl.obolibrary.org/obo/MONDO_0011977	UMLS:C1842464|http://identifiers.org/snomedct/719664004|https://omim.org/entry/608156|Orphanet:178303|http://identifiers.org/mesh/C536110	ordo_malformation_syndrome
MONDO:0008345	biolink:Disease	obsolete idiopathic pulmonary fibrosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008345		
MONDO:0008344	biolink:Disease	pulmonary edema of mountaineers, susceptibility to		SCTID:233954004|ICD9:416.8|GARD:0008348|OMIM:178400|MESH:C535833|ICD9:993.2	mondo.json	pulmonary edema of mountaineers, susceptibility to|pulmonary edema of mountaineers|HAPH|high altitude pulmonary hypertension	http://purl.obolibrary.org/obo/MONDO_0008344	http://identifiers.org/mesh/C535833|http://identifiers.org/snomedct/233954004|https://omim.org/entry/178400	predisposition
MONDO:0008343	biolink:Disease	pulmonary atresia with ventricular septal defect	Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot.	GARD:0004588|OMIM:178370|UMLS:C0344976|SCTID:253591008|MESH:C562833|Orphanet:1207|NCIT:C99033	mondo.json	pulmonary atresia with ventricular septal defect|pulmonary valve atresia with ventricular septal defect	http://purl.obolibrary.org/obo/MONDO_0008343	UMLS:C0344976|NCIT:C99033|http://identifiers.org/mesh/C562833|https://omim.org/entry/178370|Orphanet:1207|http://identifiers.org/snomedct/253591008	ordo_morphological_anomaly|gard_rare
MONDO:0008342	biolink:Disease	pubic bone dysplasia		OMIM:178350|UMLS:C1867436|MESH:C566735	mondo.json	pubic bone dysplasia	http://purl.obolibrary.org/obo/MONDO_0008342	http://identifiers.org/mesh/C566735|UMLS:C1867436|https://omim.org/entry/178350	
MONDO:0008341	biolink:Disease	ptosis-strabismus-ectopic pupils syndrome	Ptosis-strabismus-ectopic pupils syndrome is characterised by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.	Orphanet:2999|GARD:0004577|UMLS:C1867437|MESH:C566736|OMIM:178330	mondo.json	ptosis, strabismus, and ectopic pupils|McPherson-Hall syndrome|ptosis strabismus ectopic pupils	http://purl.obolibrary.org/obo/MONDO_0008341	UMLS:C1867437|https://omim.org/entry/178330|Orphanet:2999|http://identifiers.org/mesh/C566736	ordo_malformation_syndrome
MONDO:0008340	biolink:Disease	ptosis, hereditary congenital, 1	Congenital ptosis is characterized by superior eyelid drop present at birth.	SCTID:268163008|Orphanet:91411|DOID:0060261|ICD9:743.61|MESH:C566737|HP:0007970|OMIM:178300|MedDRA:10015996|NCIT:C27049	mondo.json	ptosis, congenital|congenital eyelid ptosis|ptosis, hereditary congenital, 1|congenital ptosis|congenital ptosis (disease)|ptosis, hereditary congenital 1|PTOS1	http://purl.obolibrary.org/obo/MONDO_0008340	NCIT:C27049|DOID:0060261|https://omim.org/entry/178300|http://identifiers.org/snomedct/268163008|Orphanet:91411|http://identifiers.org/mesh/C566737	ordo_disease
MONDO:0011981	biolink:Disease	autoimmune thyroid disease, susceptibility to, 2		UMLS:C1842445|OMIM:608174	mondo.json	AITD2|autoimmune thyroid disease, susceptibility to, 2|autoimmune thyroid disease, susceptibility to, type 2	http://purl.obolibrary.org/obo/MONDO_0011981	https://omim.org/entry/608174|UMLS:C1842445	predisposition
MONDO:0011982	biolink:Disease	autoimmune thyroid disease, susceptibility to, 3		OMIM:608175	mondo.json	AITD3|autoimmune thyroid disease, susceptibility to, 3|autoimmune thyroid disease, susceptibility to, type 3	http://purl.obolibrary.org/obo/MONDO_0011982	https://omim.org/entry/608175	predisposition
MONDO:0011980	biolink:Disease	autoimmune thyroid disease, susceptibility to, 1		UMLS:C1842446|OMIM:608173	mondo.json	autoimmune thyroid disease, susceptibility to, 1|AITD1|autoimmune thyroid disease, susceptibility to, type 1	http://purl.obolibrary.org/obo/MONDO_0011980	https://omim.org/entry/608173|UMLS:C1842446	predisposition
MONDO:0035930	biolink:Disease	neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency		Orphanet:583612	mondo.json	3-phosphoserine phosphatase deficiency, prenatal form	http://purl.obolibrary.org/obo/MONDO_0035930	Orphanet:583612	ordo_subtype_of_a_disorder
MONDO:0011985	biolink:Disease	hyper-IgM syndrome type 4	A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation.	GARD:0010580|OMIM:608184|Orphanet:101091|MESH:C564277|UMLS:C1842413|DOID:0060760	mondo.json	HIGM4|hyper-IgM syndrome type 4|immunodeficiency with hyper-IgM type 4|hyper IgM syndrome 4|immunodeficiency with hyper-IgM, type 4|immunodeficiency with hyper IgM type 4|hyper-IgM syndrome 4	http://purl.obolibrary.org/obo/MONDO_0011985	Orphanet:101091|DOID:0060760|https://omim.org/entry/608184|UMLS:C1842413|http://identifiers.org/mesh/C564277	gard_rare|ordo_clinical_subtype
MONDO:0011986	biolink:Disease	tropical pancreatitis	Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis.	UMLS:C1842402|OMIM:608189|UMLS:C4510860|SCTID:724540009|MESH:C564276|Orphanet:103918	mondo.json	TCP|tropical calcific pancreatitis|tropical calcific chronic pancreatitis|fibrocalculous pancreatic diabetes, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0011986	Orphanet:103918|https://omim.org/entry/608189|UMLS:C4510860|http://identifiers.org/snomedct/724540009|UMLS:C1842402|http://identifiers.org/mesh/C564276	ordo_disease
MONDO:0011983	biolink:Disease	autoimmune thyroid disease, susceptibility to, 4		OMIM:608176|UMLS:C1842443	mondo.json	AITD4|autoimmune thyroid disease, susceptibility to, 4|autoimmune thyroid disease, susceptibility to, type 4	http://purl.obolibrary.org/obo/MONDO_0011983	https://omim.org/entry/608176|UMLS:C1842443	predisposition
MONDO:0011984	biolink:Disease	synpolydactyly type 2	Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene.	Orphanet:295197|MESH:C564278|OMIM:608180|UMLS:C1842422	mondo.json	synpolydactyly type 2|SPD2|synpolydactyly 2|synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses|synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses|SD2, Debeer type|non-syndromic synpolydactyly caused by mutation in FBLN1|SD2b|FBLN1 non-syndromic synpolydactyly|synpolydactyly, Debeer type|SPD, Debeer type	http://purl.obolibrary.org/obo/MONDO_0011984	https://omim.org/entry/608180|Orphanet:295197|http://identifiers.org/mesh/C564278|UMLS:C1842422	ordo_clinical_subtype
HGNC:18667	biolink:NamedThing	PMPCA			mondo.json		http://identifiers.org/hgnc/18667		
HGNC:16002	biolink:NamedThing	MPLKIP			mondo.json		http://identifiers.org/hgnc/16002		
HGNC:18662	biolink:NamedThing	RAX			mondo.json		http://identifiers.org/hgnc/18662		
HGNC:16001	biolink:NamedThing	SUGCT			mondo.json		http://identifiers.org/hgnc/16001		
GO:0006826	biolink:NamedThing	iron ion transport	The directed movement of iron (Fe) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	iron transport|ferric ion transport|iron ion import|ferric iron transport|ferric iron import|ferric ion import|ferric iron uptake|ferrous iron transport|ferrous ion transport	http://purl.obolibrary.org/obo/GO_0006826		
GO:0006821	biolink:NamedThing	chloride transport	The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0006821		
GO:0006820	biolink:NamedThing	anion transport	The directed movement of anions, atoms or small molecules with a net negative charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0006820		
UBERON:0005233	biolink:AnatomicalEntity	medial-nasal process ectoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005233		
HGNC:18758	biolink:NamedThing	BBS7			mondo.json		http://identifiers.org/hgnc/18758		
HGNC:3402	biolink:NamedThing	EPHX2			mondo.json		http://identifiers.org/hgnc/3402		
UBERON:0005239	biolink:AnatomicalEntity	basal plate metencephalon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005239		
HGNC:3401	biolink:NamedThing	EPHX1			mondo.json		http://identifiers.org/hgnc/3401		
HP:0003584	biolink:PhenotypicFeature	Late onset	A type of adult onset with onset of symptoms after the age of 60 years.	UMLS:C4025592	mondo.json		http://purl.obolibrary.org/obo/HP_0003584		
UBERON:0005236	biolink:AnatomicalEntity	osseus labyrinth vestibule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005236		
HP:0003581	biolink:PhenotypicFeature	Adult onset	Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.	UMLS:C1853562	mondo.json	Symptoms begin in adulthood|Onset in early adulthood|Onset in adulthood	http://purl.obolibrary.org/obo/HP_0003581		
HGNC:18750	biolink:NamedThing	RIN2			mondo.json		http://identifiers.org/hgnc/18750		
UBERON:0005234	biolink:AnatomicalEntity	optic eminence ectoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005234		
GO:0006836	biolink:NamedThing	neurotransmitter transport	The directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell.		mondo.json	sodium:neurotransmitter transport	http://purl.obolibrary.org/obo/GO_0006836		
GO:0006837	biolink:NamedThing	serotonin transport	The directed movement of serotonin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Serotonin (5-hydroxytryptamine) is a monoamine neurotransmitter occurring in the peripheral and central nervous systems.		mondo.json		http://purl.obolibrary.org/obo/GO_0006837		
GO:0006835	biolink:NamedThing	dicarboxylic acid transport	The directed movement of dicarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	sodium:dicarboxylate transport	http://purl.obolibrary.org/obo/GO_0006835		
GO:0006833	biolink:NamedThing	water transport	The directed movement of water (H2O) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0006833		
UBERON:0005222	biolink:AnatomicalEntity	liver left lobe parenchyma			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005222		
UBERON:0005221	biolink:AnatomicalEntity	liver right lobe parenchyma			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005221		
HGNC:3415	biolink:NamedThing	EPO			mondo.json		http://identifiers.org/hgnc/3415		
UBERON:0005229	biolink:AnatomicalEntity	lower leg epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005229		
HGNC:3413	biolink:NamedThing	EPM2A			mondo.json		http://identifiers.org/hgnc/3413		
UBERON:0005228	biolink:AnatomicalEntity	upper arm epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005228		
UBERON:0005227	biolink:AnatomicalEntity	manual digit epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005227		
HGNC:18762	biolink:NamedThing	SLC36A2			mondo.json		http://identifiers.org/hgnc/18762		
UBERON:0005226	biolink:AnatomicalEntity	pedal digit epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005226		
UBERON:0005225	biolink:AnatomicalEntity	upper leg epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005225		
HP:0003593	biolink:PhenotypicFeature	Infantile onset	Onset of signs or symptoms of disease between 28 days to one year of life.	UMLS:C1848924	mondo.json	Onset in infancy|Onset in first year of life|Infantile onset	http://purl.obolibrary.org/obo/HP_0003593		
GO:0006839	biolink:NamedThing	mitochondrial transport	Transport of substances into, out of or within a mitochondrion.		mondo.json		http://purl.obolibrary.org/obo/GO_0006839		
HGNC:3416	biolink:NamedThing	EPOR			mondo.json		http://identifiers.org/hgnc/3416		
FOODON:00002581	biolink:NamedThing	aquatic invertebrate	An aquatic invertebrate may live entirely beneath the water, or may live upon its surface or on the plants surrounding it. Some breathe air, others breathe water. To move, they may walk, swim, float, skate, fly or glide on their bellies—or they may not move much at all.		mondo.json		http://purl.obolibrary.org/obo/FOODON_00002581		
UBERON:0005211	biolink:AnatomicalEntity	renal medulla interstitium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005211		
NCBITaxon:2846071	biolink:OrganismalEntity	Rubivirus rubellae		GC_ID:1	mondo.json	RuV	http://purl.obolibrary.org/obo/NCBITaxon_2846071		
UBERON:0005219	biolink:AnatomicalEntity	hindbrain subarachnoid space			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005219		
UBERON:0005218	biolink:AnatomicalEntity	diencephalon subarachnoid space			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005218		
UBERON:0005217	biolink:AnatomicalEntity	midbrain subarachnoid space			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005217		
UBERON:0005216	biolink:AnatomicalEntity	optic eminence surface ectoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005216		
GO:0006807	biolink:NamedThing	nitrogen compound metabolic process	The chemical reactions and pathways involving organic or inorganic compounds that contain nitrogen.		mondo.json	nitrogen compound metabolism	http://purl.obolibrary.org/obo/GO_0006807		
UBERON:0005215	biolink:AnatomicalEntity	kidney interstitium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005215		
UBERON:0005214	biolink:AnatomicalEntity	inner renal medulla interstitium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005214		
HGNC:7	biolink:NamedThing	A2M			mondo.json		http://identifiers.org/hgnc/7		
HP:0003560	biolink:PhenotypicFeature	Muscular dystrophy	The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.	UMLS:C0026850|MSH:D009136|SNOMEDCT_US:193225000|SNOMEDCT_US:73297009|UMLS:C1864711	mondo.json	Muscle biopsy shows dystrophic changes	http://purl.obolibrary.org/obo/HP_0003560		
UBERON:0005213	biolink:AnatomicalEntity	outer renal medulla interstitium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005213		
HGNC:3420	biolink:NamedThing	EPS8			mondo.json		http://identifiers.org/hgnc/3420		
UBERON:0005212	biolink:AnatomicalEntity	Leydig cell region of testis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005212		
GO:0006812	biolink:NamedThing	cation transport	The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	trivalent inorganic cation transport|di-, tri-valent inorganic cation transport	http://purl.obolibrary.org/obo/GO_0006812		
GO:0006810	biolink:NamedThing	transport	The directed movement of substances (such as macromolecules, small molecules, ions) or cellular components (such as complexes and organelles) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter, pore or motor protein.		mondo.json	single-organism transport	http://purl.obolibrary.org/obo/GO_0006810		
GO:0006811	biolink:NamedThing	ion transport	The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0006811		
HP:0003577	biolink:PhenotypicFeature	Congenital onset	A phenotypic abnormality that is present at birth.	UMLS:C2752013|UMLS:C1836142	mondo.json	Symptoms present at birth|Onset at birth	http://purl.obolibrary.org/obo/HP_0003577		
UBERON:0005200	biolink:AnatomicalEntity	thoracic mammary gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005200		
HGNC:18746	biolink:NamedThing	SLURP1			mondo.json		http://identifiers.org/hgnc/18746		
HGNC:3437	biolink:NamedThing	ERCC5			mondo.json		http://identifiers.org/hgnc/3437		
UBERON:0005208	biolink:AnatomicalEntity	right atrium valve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005208		
HGNC:18744	biolink:NamedThing	DNAI2			mondo.json		http://identifiers.org/hgnc/18744		
HGNC:3436	biolink:NamedThing	ERCC4			mondo.json		http://identifiers.org/hgnc/3436		
UBERON:0005207	biolink:AnatomicalEntity	tonsil capsule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005207		
NCBITaxon:92860	biolink:OrganismalEntity	Pleosporales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_92860		
HGNC:3435	biolink:NamedThing	ERCC3			mondo.json		http://identifiers.org/hgnc/3435		
UBERON:0005206	biolink:AnatomicalEntity	choroid plexus stroma			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005206		
HGNC:3434	biolink:NamedThing	ERCC2			mondo.json		http://identifiers.org/hgnc/3434		
UBERON:0005205	biolink:AnatomicalEntity	lamina propria of vagina			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005205		
HGNC:3433	biolink:NamedThing	ERCC1			mondo.json		http://identifiers.org/hgnc/3433		
UBERON:0005204	biolink:AnatomicalEntity	larynx submucosa gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005204		
HGNC:3432	biolink:NamedThing	ERBB4			mondo.json		http://identifiers.org/hgnc/3432		
NCBITaxon:2704949	biolink:OrganismalEntity	Trypanosomatida		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2704949		
UBERON:0005203	biolink:AnatomicalEntity	trachea gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005203		
HGNC:3431	biolink:NamedThing	ERBB3			mondo.json		http://identifiers.org/hgnc/3431		
GO:0006816	biolink:NamedThing	calcium ion transport	The directed movement of calcium (Ca) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	sodium:calcium exchange|mitochondrial sodium/calcium ion exchange|calcium transport	http://purl.obolibrary.org/obo/GO_0006816		
HGNC:3430	biolink:NamedThing	ERBB2			mondo.json		http://identifiers.org/hgnc/3430		
HGNC:3439	biolink:NamedThing	ERCC8			mondo.json		http://identifiers.org/hgnc/3439		
HGNC:3438	biolink:NamedThing	ERCC6			mondo.json		http://identifiers.org/hgnc/3438		
NCBITaxon:80840	biolink:OrganismalEntity	Burkholderiales		GC_ID:11|PMID:16403855	mondo.json	Burkholderia/Oxalobacter/Ralstonia group	http://purl.obolibrary.org/obo/NCBITaxon_80840		
NCBITaxon:2038102	biolink:OrganismalEntity	Balantioides		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2038102		
UBERON:0005277	biolink:AnatomicalEntity	dorsal skin of toe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005277		
UBERON:0005276	biolink:AnatomicalEntity	dorsal skin of finger			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005276		
UBERON:0005275	biolink:AnatomicalEntity	dorsal skin of digit			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005275		
HGNC:18713	biolink:NamedThing	GLCCI1			mondo.json		http://identifiers.org/hgnc/18713		
UBERON:0005270	biolink:AnatomicalEntity	renal cortex interstitium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005270		
NCBITaxon:5036	biolink:OrganismalEntity	Histoplasma		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5036		
HGNC:18712	biolink:NamedThing	LGI4			mondo.json		http://identifiers.org/hgnc/18712		
HGNC:3444	biolink:NamedThing	ERF			mondo.json		http://identifiers.org/hgnc/3444		
MONDO:0008409	biolink:Disease	MYH7-related late-onset scapuloperoneal muscular dystrophy		UMLS:CN074265|OMIM:181430|Orphanet:437572|SCTID:129620000|GARD:0010313	mondo.json	scapuloperoneal muscular dystrophy|scapuloperoneal syndrome, myopathic type|SPMM|scapuloperoneal myopathy, MYH7-related|MYH7-related late-onset scapuloperoneal syndrome|MYH7-related late-onset SPMD|SPMD|MYH7-related scapuloperoneal myopathy	http://purl.obolibrary.org/obo/MONDO_0008409	http://identifiers.org/snomedct/129620000|UMLS:CN074265|https://omim.org/entry/181430|Orphanet:437572	ordo_disease
MONDO:0008408	biolink:Disease	scapuloperoneal spinal muscular atrophy, autosomal dominant		SCTID:230248006|DOID:0111552|Orphanet:431255|GARD:0010314|ICD9:335.19|OMIM:181405|EFO:1001992	mondo.json	amyotrophy, neurogenic scapuloperoneal, New England type|scapuloperoneal neuronopathy|neurogenic scapuloperoneal amyotrophy, New England type|scapuloperoneal spinal muscular atrophy|SPSMA	http://purl.obolibrary.org/obo/MONDO_0008408	DOID:0111552|Orphanet:431255|http://identifiers.org/snomedct/230248006|https://omim.org/entry/181405	ordo_disease
MONDO:0008407	biolink:Disease	neurogenic scapuloperoneal syndrome, Kaeser type		MESH:C566695|OMIM:181400|Orphanet:85146|UMLS:C1867005|DOID:0111551|GARD:0010312	mondo.json	scapuloperoneal syndrome, neurogenic type, of Kaeser|Kaeser syndrome|stark-Kaeser syndrome|scapuloperoneal syndrome, neurogenic, Kaeser type|SCPNK	http://purl.obolibrary.org/obo/MONDO_0008407	DOID:0111551|https://omim.org/entry/181400|Orphanet:85146|http://identifiers.org/mesh/C566695|UMLS:C1867005	gard_rare|ordo_disease
NCBITaxon:5039	biolink:OrganismalEntity	Blastomyces dermatitidis		GC_ID:1	mondo.json	Ajellomyces dermatitidis|Blastomycoides dermatitidis	http://purl.obolibrary.org/obo/NCBITaxon_5039		
MONDO:0008406	biolink:Disease	autosomal recessive Emery-Dreifuss muscular dystrophy	Autosomal recessive form of Emery-Dreifuss muscular dystrophy.	Orphanet:98855	mondo.json	EDMD3|Emery-Dreifuss muscular dystrophy, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0008406	Orphanet:98855	ordo_etiological_subtype
MONDO:0008405	biolink:Disease	obsolete scapula, contour of vertebral border of		OMIM:181300	mondo.json	scapula, contour of vertebral border of	http://purl.obolibrary.org/obo/MONDO_0008405	https://omim.org/entry/181300	
NCBITaxon:5037	biolink:OrganismalEntity	Histoplasma capsulatum		GC_ID:1	mondo.json	Cryptococcus capsulatus|Emmonsiella capsulata|Ajellomyces capsulatus (Kwon-Chung) McGinnis & Katz, 1979	http://purl.obolibrary.org/obo/NCBITaxon_5037		
MONDO:0008404	biolink:Disease	scalp-ear-nipple syndrome	Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.	OMIM:181270|Orphanet:2036|DOID:0111550|GARD:0000159|MESH:C536623|SCTID:721888002	mondo.json	Sen syndrome|scalp-ear-nipple syndrome|Finlay-Marks syndrome|scalp-EAR-nipple syndrome|SENS|hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples|scalp ear nipple syndrome	http://purl.obolibrary.org/obo/MONDO_0008404	Orphanet:2036|https://omim.org/entry/181270|http://identifiers.org/snomedct/721888002|DOID:0111550|http://identifiers.org/mesh/C536623	ordo_malformation_syndrome|gard_rare
MONDO:0008403	biolink:Disease	scalp defects-postaxial polydactyly syndrome	Scalp defects-postaxial polydactyly syndrome is characterised by congenital scalp defects and postaxial polydactyly type A.	GARD:0000241|UMLS:C1867021|OMIM:181250|Orphanet:1003|MESH:C536622	mondo.json	scalp defects postaxial polydactyly|scalp defects and postaxial polydactyly|congenital scalp defects associated with postaxial polydactyly	http://purl.obolibrary.org/obo/MONDO_0008403	https://omim.org/entry/181250|Orphanet:1003|UMLS:C1867021|http://identifiers.org/mesh/C536622	ordo_malformation_syndrome
MONDO:0008402	biolink:Disease	cleft palate-large ears-small head syndrome	Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.	SCTID:763130006|GARD:0000162|UMLS:C1867023|OMIM:181180|Orphanet:2013|MESH:C536621	mondo.json	SAY syndrome|cleft palate, microcephaly, large ears, and short stature|Say-Barber-Hobbs syndrome|Say Barber Hobbs syndrome|cleft palate large ears small head	http://purl.obolibrary.org/obo/MONDO_0008402	Orphanet:2013|https://omim.org/entry/181180|http://identifiers.org/snomedct/763130006|UMLS:C1867023|http://identifiers.org/mesh/C536621	gard_rare|ordo_malformation_syndrome
MONDO:0008401	biolink:Disease	pleomorphic adenoma	A neoplasm characterized by the presence of benign epithelial and myoepithelial cells and a mesenchymal component that may contain mucoid, myxoid, cartilaginous, or osseous areas. It may be completely or partially encapsulated. It occurs in the parotid gland, submandibular gland, minor salivary glands in the oral cavity, upper respiratory tract, and nasal cavity and paranasal sinuses. It usually presents as a slow growing painless mass. Infrequently, patients may present with pain and facial palsy. It may recur after excision or transform to a malignant neoplasm (carcinoma ex pleomorphic adenoma).	ICD10CM:D11.0|DOID:452|SCTID:447888006|MESH:D008949|Orphanet:454821|OMIM:181030|NCIT:C8602|EFO:1000384|ICDO:8940/0	mondo.json	tumor, mixed, benign|Sgpa|mixed tumor of the salivary gland|salivary gland adenoma, pleomorphic|pleomorphic adenoma|adenomas, salivary gland pleomorphic, somatic|pleomorphic salivary gland adenoma|Psa|pleomorphic adenoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0008401	https://omim.org/entry/181030|DOID:452|Orphanet:454821|NCIT:C8602|http://identifiers.org/snomedct/447888006|http://identifiers.org/mesh/D008949	ordo_histopathological_subtype
MONDO:0008400	biolink:Disease	salivary duct calculi	Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts.	OMIM:181010|MESH:D012465	mondo.json	salivary duct calculi|submandibular duct calculi|parotid duct calculi	http://purl.obolibrary.org/obo/MONDO_0008400	https://omim.org/entry/181010|http://identifiers.org/mesh/D012465	
CHR:9606-chr1p2	biolink:NamedThing	1p2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr1p2		
CHR:9606-chr1p3	biolink:NamedThing	1p3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr1p3		
NCBITaxon:5042	biolink:OrganismalEntity	Eurotiales		GC_ID:1	mondo.json	green and blue molds|Elaphomycetales	http://purl.obolibrary.org/obo/NCBITaxon_5042		
UBERON:0005269	biolink:AnatomicalEntity	renal cortex vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005269		
UBERON:0005268	biolink:AnatomicalEntity	renal cortex artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005268		
UBERON:0005255	biolink:AnatomicalEntity	pedal digit mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005255		
UBERON:0005254	biolink:AnatomicalEntity	upper leg mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005254		
UBERON:0005253	biolink:AnatomicalEntity	head mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005253		
UBERON:0005251	biolink:AnatomicalEntity	yolk sac cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005251		
UBERON:0005250	biolink:AnatomicalEntity	stomatodeum gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005250		
NCBITaxon:5014	biolink:OrganismalEntity	Dothideales		GC_ID:1	mondo.json	Pyrenomycetes	http://purl.obolibrary.org/obo/NCBITaxon_5014		
HGNC:3467	biolink:NamedThing	ESR1			mondo.json		http://identifiers.org/hgnc/3467		
UBERON:0005259	biolink:AnatomicalEntity	lower leg mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005259		
UBERON:0005258	biolink:AnatomicalEntity	upper arm mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005258		
UBERON:0005257	biolink:AnatomicalEntity	manual digit mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005257		
UBERON:0005256	biolink:AnatomicalEntity	trunk mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005256		
CHEBI:68452	biolink:ChemicalSubstance	azole	Any monocyclic heteroarene consisting of a five-membered ring containing nitrogen. Azoles can also contain one or more other non-carbon atoms, such as nitrogen, sulfur or oxygen.		mondo.json	azoles	http://purl.obolibrary.org/obo/CHEBI_68452		
HGNC:18708	biolink:NamedThing	GRIP1			mondo.json		http://identifiers.org/hgnc/18708		
HGNC:3473	biolink:NamedThing	ESRRB			mondo.json		http://identifiers.org/hgnc/3473		
UBERON:0005243	biolink:AnatomicalEntity	interventricular septum endocardium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005243		
HGNC:18704	biolink:NamedThing	NAA10			mondo.json		http://identifiers.org/hgnc/18704		
NCBITaxon:41283	biolink:OrganismalEntity	Chrysosporium parvum		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_41283		
UBERON:0005249	biolink:AnatomicalEntity	metanephric renal pelvis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005249		
NCBITaxon:53258	biolink:OrganismalEntity	Variola minor virus		GC_ID:1	mondo.json	Variola virus subsp. minor	http://purl.obolibrary.org/obo/NCBITaxon_53258		
UBERON:0005248	biolink:AnatomicalEntity	bulbus cordis myocardium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005248		
HP:0003508	biolink:PhenotypicFeature	Proportionate short stature	A kind of short stature in which different regions of the body are shortened to a comparable extent.	UMLS:C0878660	mondo.json	Short stature, proportionate|Proportionate small stature	http://purl.obolibrary.org/obo/HP_0003508		
UBERON:0007806	biolink:AnatomicalEntity	connecting stalk			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007806		
UBERON:0007807	biolink:AnatomicalEntity	connecting stalk vasculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007807		
UBERON:0007808	biolink:AnatomicalEntity	adipose tissue of abdominal region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007808		
NCBITaxon:138951	biolink:OrganismalEntity	Enterovirus D		GC_ID:1	mondo.json	Enterovirus EV-D|Human enterovirus D	http://purl.obolibrary.org/obo/NCBITaxon_138951		
GO:0016229	biolink:NamedThing	steroid dehydrogenase activity	Catalysis of an oxidation-reduction (redox) reaction in which one substrate is a sterol derivative.		mondo.json		http://purl.obolibrary.org/obo/GO_0016229		
UBERON:0007811	biolink:AnatomicalEntity	craniocervical region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007811		
UBERON:0007812	biolink:AnatomicalEntity	post-anal tail			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007812		
NCIT:C3367	biolink:NamedThing	Finding			mondo.json		http://purl.obolibrary.org/obo/NCIT_C3367		http://purl.obolibrary.org/obo/NCIT_C67497|http://purl.obolibrary.org/obo/NCIT_C89506|http://purl.obolibrary.org/obo/NCIT_C116977|http://purl.obolibrary.org/obo/NCIT_C90259|http://purl.obolibrary.org/obo/NCIT_C61410
NCBITaxon:5073	biolink:OrganismalEntity	Penicillium		GC_ID:1	mondo.json	Eupenicillium	http://purl.obolibrary.org/obo/NCBITaxon_5073		
NCBITaxon:138948	biolink:OrganismalEntity	Enterovirus A		GC_ID:1	mondo.json	Human enterovirus A|Human coxsackievirus A|Coxsackievirus A|Enterovirus EV-A	http://purl.obolibrary.org/obo/NCBITaxon_138948		
NCBITaxon:138949	biolink:OrganismalEntity	Enterovirus B		GC_ID:1	mondo.json	Human enterovirus B|Enterovirus EV-B	http://purl.obolibrary.org/obo/NCBITaxon_138949		
GO:0004252	biolink:NamedThing	serine-type endopeptidase activity	Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine).		mondo.json	serine elastase activity|blood coagulation factor activity	http://purl.obolibrary.org/obo/GO_0004252		
HP:0003510	biolink:PhenotypicFeature	Severe short stature	A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.	UMLS:C0013336|SNOMEDCT_US:237837007|SNOMEDCT_US:237836003|SNOMEDCT_US:422065006|MSH:D004392	mondo.json	Proportionate dwarfism|Severe short stature|Short stature, severe|Dwarfism|Short stature, extreme	http://purl.obolibrary.org/obo/HP_0003510		
NCBITaxon:138950	biolink:OrganismalEntity	Enterovirus C		GC_ID:1	mondo.json	Enterovirus EV-C|Poliovirus|Human enterovirus C	http://purl.obolibrary.org/obo/NCBITaxon_138950		
GO:0090174	biolink:NamedThing	organelle membrane fusion	The joining of two lipid bilayers to form a single organelle membrane.		mondo.json		http://purl.obolibrary.org/obo/GO_0090174		
GO:0006887	biolink:NamedThing	exocytosis	A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell.		mondo.json	nonselective vesicle exocytosis|vesicle exocytosis	http://purl.obolibrary.org/obo/GO_0006887		
GO:0006885	biolink:NamedThing	regulation of pH	Any process involved in the maintenance of an internal equilibrium of hydrogen ions, thereby modulating the internal pH, within an organism or cell.		mondo.json	hydrogen ion homeostasis	http://purl.obolibrary.org/obo/GO_0006885		
GO:0006886	biolink:NamedThing	intracellular protein transport	The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell.		mondo.json	copper-induced intracellular protein transport	http://purl.obolibrary.org/obo/GO_0006886		
CHEBI:32486	biolink:ChemicalSubstance	L-phenylalaninate	An optically active form of phenylalaninate having L-configuration.		mondo.json	L-phenylalanine anion|(2S)-2-amino-3-phenylpropanoate|L-phenylalaninate	http://purl.obolibrary.org/obo/CHEBI_32486		
GO:0016209	biolink:NamedThing	antioxidant activity	Inhibition of the reactions brought about by dioxygen (O2) or peroxides. Usually the antioxidant is effective because it can itself be more easily oxidized than the substance protected. The term is often applied to components that can trap free radicals, thereby breaking the chain reaction that normally leads to extensive biological damage.		mondo.json		http://purl.obolibrary.org/obo/GO_0016209		
FOODON:00002501	biolink:NamedThing	multi-component food product	A food product consisting of food material derived from ingredients sourced from multiple organisms.		mondo.json		http://purl.obolibrary.org/obo/FOODON_00002501		
CHEBI:32487	biolink:ChemicalSubstance	L-phenylalaninium	An optically active form of phenylalaninium having L-configuration.		mondo.json	L-phenylalaninium|L-phenylalanine cation|(1S)-1-carboxy-2-phenylethanaminium	http://purl.obolibrary.org/obo/CHEBI_32487		
GO:0016202	biolink:NamedThing	regulation of striated muscle tissue development	Any process that modulates the frequency, rate or extent of striated muscle development.		mondo.json		http://purl.obolibrary.org/obo/GO_0016202		
FOODON:00002505	biolink:NamedThing	dairy cattle	Dairy cattle are a type of cattle bred for the ability to produce large quantities of milk, from which dairy products are made.  This class covers both male and female members of a dairy breed.		mondo.json		http://purl.obolibrary.org/obo/FOODON_00002505		
FOODON:00002507	biolink:NamedThing	taurine cattle	Taurine cattle (Bos taurus taurus), also called European cattle, are a subspecies of domesticated cattle originating in the Near East. Both taurine cattle and indicine cattle (zebus) are descended from the aurochs. Taurine cattle were originally considered a distinct species, but are now typically grouped with zebus and aurochs into one species, Bos taurus. Most modern breeds of cattle are taurine cattle.		mondo.json		http://purl.obolibrary.org/obo/FOODON_00002507		
NCBITaxon:5052	biolink:OrganismalEntity	Aspergillus		PMID:20141373|PMID:28082760|GC_ID:1	mondo.json	Emericella|Petromyces|Polypaecilum|Phialosimplex|Chaetosartorya	http://purl.obolibrary.org/obo/NCBITaxon_5052		
GO:0006898	biolink:NamedThing	receptor-mediated endocytosis	An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles.		mondo.json	receptor mediated endocytosis	http://purl.obolibrary.org/obo/GO_0006898		
GO:0006897	biolink:NamedThing	endocytosis	A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.		mondo.json	endocytic import into cell|vesicle endocytosis|plasma membrane invagination|nonselective vesicle endocytosis	http://purl.obolibrary.org/obo/GO_0006897		
CHEBI:32494	biolink:ChemicalSubstance	D-phenylalaninate	The D-enantiomer of phenylalaninate.		mondo.json	D-phenylalaninate|(2R)-2-amino-3-phenylpropanoate|D-phenylalanine anion	http://purl.obolibrary.org/obo/CHEBI_32494		
NCBITaxon:5061	biolink:OrganismalEntity	Aspergillus niger		PMID:21892240|GC_ID:1	mondo.json	Aspergillus lacticoffeatus Frisvad & Samson, 2004|Aspergillus lacticoffeatus	http://purl.obolibrary.org/obo/NCBITaxon_5061		
CHEBI:32495	biolink:ChemicalSubstance	D-phenylalaninium	An optically active form of phenylalaninium having D-configuration.		mondo.json	(1R)-1-carboxy-2-phenylethanaminium|D-phenylalaninium|D-phenylalanine cation	http://purl.obolibrary.org/obo/CHEBI_32495		
GO:0090154	biolink:NamedThing	positive regulation of sphingolipid biosynthetic process	Any process that increases the rate, frequency or extent of sphingolipid biosynthesis. Sphingolipid biosynthesis is the chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid).		mondo.json		http://purl.obolibrary.org/obo/GO_0090154		
GO:0090155	biolink:NamedThing	negative regulation of sphingolipid biosynthetic process	Any process that decreases the rate, frequency or extent of sphingolipid biosynthesis. Sphingolipid biosynthesis is the chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid).		mondo.json	negative regulation of sphingolipid biosynthesis involved in cellular sphingolipid homeostasis	http://purl.obolibrary.org/obo/GO_0090155		
GO:0090153	biolink:NamedThing	regulation of sphingolipid biosynthetic process	Any process that modulates the rate, frequency or extent of sphingolipid biosynthesis. Sphingolipid biosynthesis is the chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid).		mondo.json		http://purl.obolibrary.org/obo/GO_0090153		
GO:0006869	biolink:NamedThing	lipid transport	The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent.		mondo.json		http://purl.obolibrary.org/obo/GO_0006869		
GO:0006865	biolink:NamedThing	amino acid transport	The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0006865		
HP:0003549	biolink:PhenotypicFeature	Abnormality of connective tissue	Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).	UMLS:C4025596	mondo.json		http://purl.obolibrary.org/obo/HP_0003549		
GO:0006860	biolink:NamedThing	extracellular amino acid transport	The directed extracellular movement of amino acids.		mondo.json		http://purl.obolibrary.org/obo/GO_0006860		
PATO:0001374	biolink:NamedThing	ploidy	A cellular quality inhering in a bearer by virtue of the bearer's number of homologous sets of chromosomes in the nucleus or primary chromosome-containing compartment of the cell, each set essentially coding for all the biological traits of the organism.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001374		
PATO:0001375	biolink:NamedThing	haploid	A ploidy quality inhering in a bearer by virtue of the bearer's containing a single set of homologous chromosomes.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001375		
GO:0006878	biolink:NamedThing	cellular copper ion homeostasis	Any process involved in the maintenance of an internal steady state of copper ions at the level of a cell.		mondo.json	copper homeostasis	http://purl.obolibrary.org/obo/GO_0006878		
GO:0006879	biolink:NamedThing	cellular iron ion homeostasis	Any process involved in the maintenance of an internal steady state of iron ions at the level of a cell.		mondo.json	iron homeostasis	http://purl.obolibrary.org/obo/GO_0006879		
GO:0006874	biolink:NamedThing	cellular calcium ion homeostasis	Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell.		mondo.json	regulation of calcium ion concentration	http://purl.obolibrary.org/obo/GO_0006874		
GO:0006875	biolink:NamedThing	cellular metal ion homeostasis	Any process involved in the maintenance of an internal steady state of metal ions at the level of a cell.		mondo.json	cellular heavy metal ion homeostasis	http://purl.obolibrary.org/obo/GO_0006875		
GO:0006873	biolink:NamedThing	cellular ion homeostasis	Any process involved in the maintenance of an internal steady state of ions at the level of a cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0006873		
UBERON:0007842	biolink:AnatomicalEntity	membrane bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007842		
UBERON:0007844	biolink:AnatomicalEntity	cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007844		
HP:0003552	biolink:PhenotypicFeature	Muscle stiffness	A condition in which muscles cannot be moved quickly without accompanying pain or spasm.	UMLS:C0221170|SNOMEDCT_US:16046003	mondo.json		http://purl.obolibrary.org/obo/HP_0003552		
UBERON:0007845	biolink:AnatomicalEntity	regular connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007845		
UBERON:0007846	biolink:AnatomicalEntity	dense regular connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007846		
GO:0090181	biolink:NamedThing	regulation of cholesterol metabolic process	Any process that modulates the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones.		mondo.json		http://purl.obolibrary.org/obo/GO_0090181		
UBERON:0007827	biolink:AnatomicalEntity	external nose			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007827		
UBERON:0007828	biolink:AnatomicalEntity	girdle bone/zone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007828		
UBERON:0007829	biolink:AnatomicalEntity	pectoral girdle bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007829		
UBERON:0007830	biolink:AnatomicalEntity	pelvic girdle bone/zone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007830		
PATO:0001394	biolink:NamedThing	diploid	A ploidy quality inhering in a bearer by virtue of the bearer's having two copies (homologs) of each chromosome, usually one from the mother and one from the father.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001394		
HP:0003521	biolink:PhenotypicFeature	Disproportionate short-trunk short stature	A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.	UMLS:C1846435	mondo.json	Disproportionate short-trunked dwarfism|Short-trunked dwarfism|Disproportionate short-trunked short stature	http://purl.obolibrary.org/obo/HP_0003521		
NCBITaxon:5094	biolink:OrganismalEntity	Talaromyces		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5094		
UBERON:0007831	biolink:AnatomicalEntity	pectoral girdle skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007831		
UBERON:0007832	biolink:AnatomicalEntity	pelvic girdle skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007832		
PATO:0001393	biolink:NamedThing	euploid	A ploidy quality inhering in a bearer by virtue of the bearer's containing an integral multiple of the monoploid number, possibly excluding the sex-determining chromosomes.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001393		
PATO:0001396	biolink:NamedThing	cellular quality	A monadic quality of continuant that exists at the cellular level of organisation.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001396		
PATO:0001397	biolink:NamedThing	cellular potency	A cellular quality that arises by virtue of whether the bearer's disposition to differentiate into one or more mature cell types.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001397		
GO:0006858	biolink:NamedThing	extracellular transport	The transport of substances that occurs outside cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0006858		
GO:0006859	biolink:NamedThing	obsolete extracellular carbohydrate transport	OBSOLETE. The directed extracellular movement of carbohydrates.		mondo.json		http://purl.obolibrary.org/obo/GO_0006859		
GO:0006855	biolink:NamedThing	xenobiotic transmembrane transport	The process in which a xenobiotic, a compound foreign to the organim exposed to it, is transported across a membrane. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.		mondo.json	drug transmembrane transport|multidrug transport|drug membrane transport	http://purl.obolibrary.org/obo/GO_0006855		
UBERON:0007823	biolink:AnatomicalEntity	appendage girdle region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007823		
UBERON:0007826	biolink:AnatomicalEntity	peritoneal mesentery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007826		
UBERON:0001309	biolink:AnatomicalEntity	internal iliac artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001309		
UBERON:0001308	biolink:AnatomicalEntity	external iliac artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001308		
HP:0030050	biolink:PhenotypicFeature	Narcolepsy	An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis.	MSH:D009290|UMLS:C0027404|SNOMEDCT_US:60380001	mondo.json		http://purl.obolibrary.org/obo/HP_0030050		
UBERON:0003968	biolink:AnatomicalEntity	peripheral lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003968		
UBERON:0001305	biolink:AnatomicalEntity	ovarian follicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001305		
UBERON:0001304	biolink:AnatomicalEntity	germinal epithelium of ovary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001304		
UBERON:0001307	biolink:AnatomicalEntity	capsule of ovary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001307		
UBERON:0003967	biolink:AnatomicalEntity	cutaneous elastic tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003967		
NCBITaxon:33090	biolink:OrganismalEntity	Viridiplantae		GC_ID:1|PMID:16248873|PMID:30257078	mondo.json	Chlorobionta|chlorophyte/embryophyte group|Chloroplastida|green plants|Chlorophyta/Embryophyta group|green plants	http://purl.obolibrary.org/obo/NCBITaxon_33090		
UBERON:0001312	biolink:AnatomicalEntity	superior vesical artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001312		
UBERON:0003975	biolink:AnatomicalEntity	internal female genitalia			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003975		
UBERON:0001311	biolink:AnatomicalEntity	inferior vesical artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001311		
UBERON:0001310	biolink:AnatomicalEntity	umbilical artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001310		
SO:0000159	biolink:SequenceFeature	deletion	The point at which one or more contiguous nucleotides were excised.		mondo.json	deleted_sequence|nucleotide deletion|nucleotide_deletion	http://purl.obolibrary.org/obo/SO_0000159		
UBERON:0003970	biolink:AnatomicalEntity	placental labyrinth vasculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003970		
NCBITaxon:57077	biolink:OrganismalEntity	Dicrocoelium		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_57077		
UBERON:0003959	biolink:AnatomicalEntity	rete testis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003959		
UBERON:0003957	biolink:AnatomicalEntity	Bruch's membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003957		
NCBITaxon:33084	biolink:OrganismalEntity	Entamoebidae		GC_ID:1	mondo.json	Entamoebida	http://purl.obolibrary.org/obo/NCBITaxon_33084		
UBERON:0001301	biolink:AnatomicalEntity	epididymis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001301		
UBERON:0001300	biolink:AnatomicalEntity	scrotum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001300		
UBERON:0001303	biolink:AnatomicalEntity	left uterine tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001303		
UBERON:0001302	biolink:AnatomicalEntity	right uterine tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001302		
UBERON:0003963	biolink:AnatomicalEntity	otic ganglion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003963		
UBERON:0003946	biolink:AnatomicalEntity	placenta labyrinth			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003946		
UBERON:0003947	biolink:AnatomicalEntity	brain ventricle/choroid plexus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003947		
SO:0000185	biolink:SequenceFeature	primary_transcript	A transcript that in its initial state requires modification to be functional.		mondo.json	precursor RNA|INSDC_feature:precursor_RNA|INSDC_feature:prim_transcript|primary transcript	http://purl.obolibrary.org/obo/SO_0000185		
CHEBI:22160	biolink:ChemicalSubstance	acetamides	Compounds with the general formula RNHC(=O)CH3.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_22160		
UBERON:0003953	biolink:AnatomicalEntity	posterior stroma of cornea			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003953		
UBERON:0003952	biolink:AnatomicalEntity	anterior stroma of cornea			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003952		
HP:0030082	biolink:PhenotypicFeature	Abnormal drinking behavior	Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.	UMLS:C4022657	mondo.json	Abnormal drinking behavior|Abnormal drinking behaviour	http://purl.obolibrary.org/obo/HP_0030082		
UBERON:0003937	biolink:AnatomicalEntity	reproductive gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003937		
UBERON:0003933	biolink:AnatomicalEntity	cranial cartilage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003933		
UBERON:0015917	biolink:AnatomicalEntity	superficial lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015917		
UBERON:0015918	biolink:AnatomicalEntity	deep lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015918		
UBERON:0003942	biolink:AnatomicalEntity	somatic sensory system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003942		
MONDO:0004713	biolink:Disease	lower gum cancer	A cancer involving a gingiva of lower jaw.	UMLS:C0432581|DOID:9125|SCTID:363384006|ICD9:143.1	mondo.json	malignant gingiva of lower jaw neoplasm|malignant tumour of lower gum|malignant neoplasm of gingiva of lower jaw|malignant tumor of lower gingiva|gingiva of lower jaw cancer|cancer of gingiva of lower jaw	http://purl.obolibrary.org/obo/MONDO_0004713	UMLS:C0432581|http://identifiers.org/snomedct/363384006|DOID:9125	
MONDO:0004712	biolink:Disease	herpes simplex dermatitis	Localized rash characterized by grouped vesicles or pustules on an erythematous base that is caused by herpes simplex virus infection.	NCIT:C35620|UMLS:C0854331|ICD9:054.41|DOID:9123|SCTID:186535001|ICD10CM:B00.0|MESH:D007617|ICD9:054.0	mondo.json	Simplexvirus caused dermatitis|eczema herpeticum|Herpes simplex dermatitis of eyelid|Simplexvirus dermatitis|Herpes simplex dermatitis|Herpes simplex virus dermatitis|herpes simplex dermatitis|Herpes simplex eyelid dermatitis|herpes simplex virus eyelid dermatitis|eczema herpeticum (disorder) [ambiguous]	http://purl.obolibrary.org/obo/MONDO_0004712	http://identifiers.org/snomedct/186535001|UMLS:C0854331|http://identifiers.org/mesh/D007617|DOID:9123|http://purl.bioontology.org/ontology/ICD10CM/B00.0|NCIT:C35620	
NCBITaxon:84642	biolink:OrganismalEntity	Aeromonadaceae		GC_ID:11	mondo.json	Aeromonas group	http://purl.obolibrary.org/obo/NCBITaxon_84642		
MONDO:0004715	biolink:Disease	liver carcinoma in situ	A carcinoma in situ involving a liver.	UMLS:C0345908|SCTID:92644006|ICD10CM:D01.5|DOID:9132|ICD9:230.8	mondo.json	carcinoma in situ of liver and biliary system|stage 0 liver carcinoma|liver in situ carcinoma|carcinoma in situ of liver|carcinoma in situ of liver, gallbladder and bile ducts	http://purl.obolibrary.org/obo/MONDO_0004715	DOID:9132|http://purl.bioontology.org/ontology/ICD10CM/D01.5|http://identifiers.org/snomedct/92644006|UMLS:C0345908	
MONDO:0004714	biolink:Disease	atrophic muscular disease	A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves.	NCIT:C84574|DOID:913	mondo.json	atrophic muscular disorder	http://purl.obolibrary.org/obo/MONDO_0004714	DOID:913|NCIT:C84574	
MONDO:0004711	biolink:Disease	obsolete amyloidosis			mondo.json	obsolete amyloidosis (disease)	http://purl.obolibrary.org/obo/MONDO_0004711		
MONDO:0004710	biolink:Disease	uterus carcinoma in situ	A carcinoma in situ involving a uterus.	DOID:9108|SCTID:92788005|ICD9:233.2|UMLS:C0686237	mondo.json	uterus in situ carcinoma|carcinoma in situ of uterus|stage 0 uterus carcinoma	http://purl.obolibrary.org/obo/MONDO_0004710	DOID:9108|http://identifiers.org/snomedct/92788005|UMLS:C0686237	
PATO:0001776	biolink:NamedThing	increased flexibility	A flexibility which is relatively high.		mondo.json	high flexibility	http://purl.obolibrary.org/obo/PATO_0001776		
PATO:0001777	biolink:NamedThing	decreased flexibility	A flexibility which is relatively low.		mondo.json	low flexibility	http://purl.obolibrary.org/obo/PATO_0001777		
HP:0030012	biolink:PhenotypicFeature	Abnormal female reproductive system physiology		UMLS:C4020714|UMLS:C4022678	mondo.json	Abnormal female reproductive system physiology|Abnormal female genital system physiology	http://purl.obolibrary.org/obo/HP_0030012		
HP:0030014	biolink:PhenotypicFeature	Female sexual dysfunction	A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity	UMLS:C1112442	mondo.json		http://purl.obolibrary.org/obo/HP_0030014		
MONDO:0016702	biolink:Disease	oligoastrocytoma	A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)	ONCOTREE:OAST|GARD:0009769|Orphanet:251656|MESH:D009837|UMLS:C0280793|SCTID:716647001|NCIT:C4050|DOID:7912|EFO:0000630|MedDRA:10027744	mondo.json	mixed oligoastrocytoma|mixed astrocytoma-oligodendroglioma|WHO grade II mixed glioma|mixed oligo-astrocytoma|mixed astrocytic-oligodendroglial tumor|MOA|mixed oligodendroglioma-astrocytoma|glioma, mixed, benign|mixed astrocytic-oligodendroglial neoplasm|oligoastrocytoma	http://purl.obolibrary.org/obo/MONDO_0016702	http://identifiers.org/snomedct/716647001|UMLS:C0280793|NCIT:C4050|Orphanet:251656|DOID:7912	ordo_disease|gard_rare
MONDO:0016703	biolink:Disease	anaplastic oligoastrocytoma	An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity.	NCIT:C6959|ONCOTREE:AOAST|GARD:0010637|UMLS:C0431108|Orphanet:251663|EFO:0002500	mondo.json	AOAST|anaplastic mixed glioma|aMOA|WHO grade III mixed glioma|anaplastic oligoastrocytoma	http://purl.obolibrary.org/obo/MONDO_0016703	UMLS:C0431108|NCIT:C6959|Orphanet:251663	gard_rare|ordo_disease
MONDO:0016704	biolink:Disease	obsolete glial tumor of neuroepithelial tissue with unknown origin		UMLS:CN201948|Orphanet:251668	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016704	UMLS:CN201948|Orphanet:251668	ordo_group_of_disorders
UBERON:0001350	biolink:AnatomicalEntity	coccyx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001350		
MONDO:0016705	biolink:Disease	angiocentric glioma	Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis.	Orphanet:251671|NCIT:C92552|UMLS:C2363903|ONCOTREE:ANGL|ICDO:9431/1	mondo.json	angiocentric glioma (WHO grade I)|Monomorphus angiocentric glioma|angiocentric neuroepithelial tumor|ANGL	http://purl.obolibrary.org/obo/MONDO_0016705	NCIT:C92552|Orphanet:251671|UMLS:C2363903	ordo_disease
HP:0030016	biolink:PhenotypicFeature	Dyspareunia	Recurrent or persistent genital pain associated with sexual intercourse.	UMLS:C1384606|SNOMEDCT_US:71315007|MSH:D004414	mondo.json		http://purl.obolibrary.org/obo/HP_0030016		
MONDO:0016700	biolink:Disease	anaplastic ependymoma	Anaplastic ependymoma is a rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking.	NCIT:C6770|UMLS:C1333407|Orphanet:251646|MedDRA:10014968|DOID:5074|ICDO:9392/3|NCIT:C4049|GARD:0010634|UMLS:C0280788|ONCOTREE:APE	mondo.json	undifferentiated ependymoma|anaplastic ependymoma|high-grade ependymoma|malignant ependymoma|ependymoma, malignant|undifferentiated ependymal neoplasm|WHO grade III ependymal tumor|anaplastic ependymal neoplasm|ependymoma, anaplastic, malignant|anaplastic ependymal tumor|WHO grade III ependymal neoplasm|undifferentiated ependymal tumor|ependymal tumors	http://purl.obolibrary.org/obo/MONDO_0016700	UMLS:C0280788|Orphanet:251646|NCIT:C4049|DOID:5074	ordo_disease|gard_rare
MONDO:0016701	biolink:Disease	oligoastrocytic tumor		UMLS:CN201945|Orphanet:251651	mondo.json	mixed oligodendroglial and astrocytic tumor	http://purl.obolibrary.org/obo/MONDO_0016701	Orphanet:251651|UMLS:CN201945	disease_grouping|ordo_group_of_disorders
UBERON:0001356	biolink:AnatomicalEntity	medial circumflex femoral artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001356		
MONDO:0004709	biolink:Disease	occipital lobe neoplasm	A neoplasm involving a occipital lobe.	NCIT:C5574|UMLS:C0153638|SCTID:126957005|ICD9:191.4|DOID:910|ICD10CM:C71.4|UMLS:C1263889	mondo.json	neoplasm of the occipital lobe|tumor of occipital lobe|neoplasm of occipital lobe|occipital lobe tumor|tumor of the occipital lobe|malignant neoplasm of occipital lobe|occipital lobe neoplasm|occipital lobe neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0004709	DOID:910|http://purl.bioontology.org/ontology/ICD10CM/C71.4|http://identifiers.org/snomedct/126957005|UMLS:C1263889|NCIT:C5574|UMLS:C0153638	
UBERON:0001355	biolink:AnatomicalEntity	deep femoral artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001355		
MONDO:0004706	biolink:Disease	discoid lupus erythematosus of eyelid		UMLS:C0155180|ICD9:373.34|SCTID:79291003|DOID:9076	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004706	http://identifiers.org/snomedct/79291003|UMLS:C0155180|DOID:9076	
UBERON:0001352	biolink:AnatomicalEntity	external acoustic meatus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001352		
MONDO:0004705	biolink:Disease	liver solitary fibrous tumor	A solitary fibrous tumor that arises from the liver. It affects females more frequently than males. Signs and symptoms include the presence of an abdominal mass and abdominal discomfort.	NCIT:C5752|UMLS:C1333965|DOID:907	mondo.json	fibroma of the liver|liver solitary fibrous tumor|hepatic fibroma|liver localized fibrous mesothelioma|liver fibroma|fibroma of liver|liver localized fibrous tumor	http://purl.obolibrary.org/obo/MONDO_0004705	UMLS:C1333965|DOID:907|NCIT:C5752	
UBERON:0001351	biolink:AnatomicalEntity	lacrimal sac			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001351		
MONDO:0004708	biolink:Disease	esophagus carcinoma in situ	Stage 0 includes: For squamous cell carcinoma: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. For adenocarcinoma: Tis (HGD), N0, M0, G1, GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)	DOID:9095|ICD10CM:D00.1|UMLS:C0154059|ICD9:230.1|SCTID:92585006|NCIT:C89771	mondo.json	severe esophageal dysplasia aJCC v7|stage 0 esophagus carcinoma|esophagus in situ carcinoma|stage 0 esophageal cancer aJCC v7|stage 0 esophageal carcinoma in situ|carcinoma in situ of esophagus|esophageal carcinoma in situ|severe esophageal dysplasia|stage 0 carcinoma of the esophagus|stage 0 esophageal cancer|esophageal carcinoma in situ aJCC v7	http://purl.obolibrary.org/obo/MONDO_0004708	NCIT:C89771|DOID:9095|UMLS:C0154059|http://purl.bioontology.org/ontology/ICD10CM/D00.1|http://identifiers.org/snomedct/92585006	
MONDO:0004707	biolink:Disease	anal canal carcinoma in situ	A carcinoma in situ involving a anal canal.	ICD9:230.6|DOID:9087|SCTID:92531006|NCIT:C7794|ICD9:230.5|UMLS:C2242854|UMLS:C0154064	mondo.json	stage 0 anal canal cancer aJCC v7|stage 0 anal canal cancer aJCC v6|stage 0 anal canal carcinoma|stage 0 anal canal carcinoma aJCC v6 and v7|carcinoma in situ of anus|anal carcinoma in situ|stage 0 anal canal cancer|stage 0 anal carcinoma in situ|carcinoma in situ of anal canal|stage 0 anal carcinoma aJCC v6 and v7|anal canal in situ carcinoma|anal intraepithelial neoplasia grade III|anal carcinoma stage 0|stage 0 anal canal cancer aJCC v6 and v7	http://purl.obolibrary.org/obo/MONDO_0004707	UMLS:C2242854|NCIT:C7794|UMLS:C0154064|http://identifiers.org/snomedct/92531006|DOID:9087	
UBERON:0001353	biolink:AnatomicalEntity	anal region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001353		
MONDO:0004724	biolink:Disease	submandibular gland cancer	A malignant neoplasm involving the submandibular gland.	SCTID:363380002|NCIT:C8396|ICD9:142.1|UMLS:C0153360|DOID:9173	mondo.json	submandibular gland carcinoma|cancer of submandibular gland|malignant tumor of the submandibular gland|submandibular gland cancer|carcinoma of the submandibular gland|carcinoma of submandibular gland|malignant neoplasm of submandibular gland|malignant submandibular gland neoplasm|malignant tumor of submandibular gland|malignant neoplasm of submaxillary gland	http://purl.obolibrary.org/obo/MONDO_0004724	DOID:9173|UMLS:C0153360|http://identifiers.org/snomedct/363380002|NCIT:C8396	
MONDO:0004723	biolink:Disease	liver leiomyoma	A benign smooth muscle neoplasm arising from the liver. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	UMLS:C1333968|DOID:917|NCIT:C5753	mondo.json	liver leiomyoma|leiomyoma of liver|leiomyoma of the liver|hepatic leiomyoma	http://purl.obolibrary.org/obo/MONDO_0004723	NCIT:C5753|UMLS:C1333968|DOID:917	
MONDO:0004726	biolink:Disease	liver inflammatory myofibroblastic tumor	A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.	NCIT:C5858|SCTID:717329009|DOID:918|UMLS:C1333967|EFO:1000324	mondo.json	liver inflammatory pseudotumor|inflammatory pseudotumor of liver|liver inflammatory myofibroblastic tumor|hepatic inflammatory myofibroblastic tumor|inflammatory pseudotumor of the liver	http://purl.obolibrary.org/obo/MONDO_0004726	DOID:918|http://identifiers.org/snomedct/717329009|NCIT:C5858|UMLS:C1333967	
MONDO:0004725	biolink:Disease	rectum carcinoma in situ	A in situ carcinoma that involves the rectum.	NCIT:C4853|SCTID:308879003|ICD10CM:D01.2|DOID:9174|ICD9:230.4|UMLS:C0154062	mondo.json	stage 0 rectal cancer aJCC v7|marked rectal dysplasia|stage 0 rectal cancer aJCC v6|marked dysplasia of rectum|carcinoma in situ of the rectum|stage 0 rectal cancer aJCC v6 and v7|marked dysplasia of the rectum|stage 0 carcinoma of rectum|severe rectal dysplasia|stage 0 carcinoma of the rectum|rectal carcinoma in situ|stage 0 rectal carcinoma|stage 0 rectum carcinoma|severe dysplasia of rectum|stage 0 rectal cancer|carcinoma in situ of rectum|severe dysplasia of the rectum|rectum in situ carcinoma	http://purl.obolibrary.org/obo/MONDO_0004725	http://identifiers.org/snomedct/308879003|UMLS:C0154062|DOID:9174|http://purl.bioontology.org/ontology/ICD10CM/D01.2|NCIT:C4853	
MONDO:0004720	biolink:Disease	variola minor infection	A orthopoxvirus that causes a milder clinical syndrome than smallpox.	NCIT:C34365|UMLS:C0001906|DOID:9153|ICD9:050.1|SCTID:72294005	mondo.json	whitepox|alastrim|cottonpox|milkpox|Variola minor	http://purl.obolibrary.org/obo/MONDO_0004720	DOID:9153|NCIT:C34365|UMLS:C0001906|http://identifiers.org/snomedct/72294005	
UBERON:0001338	biolink:AnatomicalEntity	urethral gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001338		
MONDO:0004722	biolink:Disease	obsolete Wiskott-Aldrich syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004722		
MONDO:0004721	biolink:Disease	obsolete liver neoplasm			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004721		
PATO:0001789	biolink:NamedThing	domed	A curvature quality inhering in a bearer by virtue of the bearer's having a shape resembling a dome.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001789		
UBERON:0001344	biolink:AnatomicalEntity	epithelium of vagina			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001344		
MONDO:0004717	biolink:Disease	peliosis hepatis	A vascular disease of the liver characterized by the occurrence of multiple blood-filled cysts or cavities. The cysts are lined with endothelial cells; the cavities lined with hepatic parenchymal cells (hepatocytes). Peliosis hepatis has been associated with use of anabolic steroids (anabolic agents) and certain drugs.	DOID:914|EFO:1001387|UMLS:C0030781|SCTID:58008004|ICD10CM:K76.4|MESH:D010382	mondo.json	hepatic peliosis	http://purl.obolibrary.org/obo/MONDO_0004717	UMLS:C0030781|http://identifiers.org/snomedct/58008004|DOID:914|http://identifiers.org/mesh/D010382|http://purl.bioontology.org/ontology/ICD10CM/K76.4	
MONDO:0004716	biolink:Disease	stomach carcinoma in situ	A in situ carcinoma that involves the stomach.	ICD9:230.2|ICD10CM:D00.2|DOID:9138|UMLS:C0154060|SCTID:92756002|NCIT:C7788	mondo.json	stage 0 gastric cancer aJCC v6|stomach carcinoma in situ|stage 0 gastric (stomach) cancer|stage 0 stomach carcinoma|stomach carcinoma stage 0|stomach in situ carcinoma|stage 0 carcinoma of the stomach|stage 0 gastric cancer aJCC v6 and v7|stage 0 gastric cancer|stage 0 carcinoma of stomach|stage 0 gastric carcinoma in situ|stage 0 gastric carcinoma|carcinoma of the stomach stage 0|carcinoma in situ of the stomach|gastric carcinoma stage 0|carcinoma of stomach stage 0|gastric carcinoma in situ|stage 0 stomach cancer|carcinoma in situ of stomach|gastric carcinoma, stage 0|stage 0 gastric cancer aJCC v7	http://purl.obolibrary.org/obo/MONDO_0004716	http://identifiers.org/snomedct/92756002|NCIT:C7788|UMLS:C0154060|http://purl.bioontology.org/ontology/ICD10CM/D00.2|DOID:9138	
MONDO:0004719	biolink:Disease	hard palate cancer	A malignant neoplasm involving the hard palate.	SCTID:363387004|ICD10CM:C05.0|NCIT:C3528|DOID:9149|UMLS:C0153375|ICD9:145.2	mondo.json	hard palate|malignant tumour of hard palate|malignant tumor of the hard palate|malignant neoplasm of the hard palate|malignant neoplasm of hard palate|cancer of hard palate|malignant hard palate tumor|hard palate cancer|malignant tumor of hard palate|malignant hard palate neoplasm	http://purl.obolibrary.org/obo/MONDO_0004719	http://identifiers.org/snomedct/363387004|http://purl.bioontology.org/ontology/ICD10CM/C05.0|DOID:9149|UMLS:C0153375|NCIT:C3528	
UBERON:0001343	biolink:AnatomicalEntity	seminiferous tubule of testis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001343		
MONDO:0004718	biolink:Disease	xeroderma of eyelid		DOID:9140|ICD9:373.33|UMLS:C0155179|SCTID:55846006	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004718	UMLS:C0155179|http://identifiers.org/snomedct/55846006|DOID:9140	
UBERON:0001326	biolink:AnatomicalEntity	levator ani muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001326		
UBERON:0003988	biolink:AnatomicalEntity	thymus corticomedullary boundary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003988		
HGNC:16192	biolink:NamedThing	SLC17A9			mondo.json		http://identifiers.org/hgnc/16192		
UBERON:0001328	biolink:AnatomicalEntity	lobe of prostate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001328		
PATO:0001796	biolink:NamedThing	decreased coiling	A coiling which is relatively low.		mondo.json	low coiling	http://purl.obolibrary.org/obo/PATO_0001796		
HGNC:28178	biolink:NamedThing	CCDC115			mondo.json		http://identifiers.org/hgnc/28178		
PATO:0001794	biolink:NamedThing	coiling	A shape quality inhering in a bearer by virtue of the bearer's being wound in a continuous series of loops.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001794		
PATO:0001795	biolink:NamedThing	increased coiling	A coiling which is relatively high.		mondo.json	high coiling	http://purl.obolibrary.org/obo/PATO_0001795		
UBERON:0001334	biolink:AnatomicalEntity	female urethra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001334		
UBERON:0001333	biolink:AnatomicalEntity	male urethra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001333		
UBERON:0001335	biolink:AnatomicalEntity	prostatic urethra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001335		
UBERON:0001330	biolink:AnatomicalEntity	pampiniform plexus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001330		
UBERON:0001332	biolink:AnatomicalEntity	prepuce of penis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001332		
UBERON:0001331	biolink:AnatomicalEntity	skin of penis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001331		
MONDO:0004702	biolink:Disease	uterine cervix leukoplakia	The presence of whitish patches on the mucosal surface of the cervix. Histologic examination reveals hyperkeratosis. In a minority of cases, underlying dysplasia or carcinoma in situ is present.	NCIT:C3976|ICD10CM:N88.0|UMLS:C0269194|ICD9:622.2|SCTID:50923006|DOID:9043	mondo.json	leukoplakia of cervix uteri|leukoplakia of cervix|leukoplakia of the cervix|leukoplakia of the uterine cervix|cervical leukoplakia|leukoplakia of the cervix uteri|leukoplakia of uterine cervix|leukoplakia of cervix (uteri)|cervix leukoplakia|cervix uteri leukoplakia	http://purl.obolibrary.org/obo/MONDO_0004702	http://identifiers.org/snomedct/50923006|DOID:9043|UMLS:C0269194|http://purl.bioontology.org/ontology/ICD10CM/N88.0|NCIT:C3976	
MONDO:0004701	biolink:Disease	uterine polyp	A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection.	SCTID:11314008|ICD9:621.0|UMLS:C0156369|NCIT:C3662|ICD10CM:N84.0|DOID:9042	mondo.json	polyp of uterus|uterus polyp|polyp of endometrium|endometrial/uterine polyp|polyp, uterus|polyp of corpus uteri|uterine polyp|polyp of the uterus	http://purl.obolibrary.org/obo/MONDO_0004701	UMLS:C0156369|DOID:9042|http://identifiers.org/snomedct/11314008|http://purl.bioontology.org/ontology/ICD10CM/N84.0|NCIT:C3662	
UBERON:0001319	biolink:AnatomicalEntity	vaginal vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001319		
MONDO:0004704	biolink:Disease	obsolete peroxisomal disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004704		
MONDO:0004703	biolink:Disease	bladder carcinoma in situ	Also known as carcinoma in situ of the urinary bladder or high grade intraurothelial neoplasia, this is a flat lesion of the transitional cell epithelium characterized by severe cytologic atypia. This lesion is confined to the urothelium, and is a precursor of invasive transitional cell carcinoma of the bladder. Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)	ICD9:233.7|NCIT:C3644|UMLS:C0154091|ICD10CM:D09.0|SCTID:92546004|DOID:9053	mondo.json	urinary bladder flat CIS|stage 0 urinary bladder carcinoma|stage 0is carcinoma of the urinary bladder|stage 0is bladder carcinoma|stage 0is carcinoma of urinary bladder|stage 0is bladder urothelial carcinoma|stage 0is bladder urothelial carcinoma aJCC v6 and v7|urinary bladder in situ carcinoma|flat carcinoma in situ of the urinary bladder|flat CIS of the bladder|bladder flat carcinoma in situ|stage 0is carcinoma of the bladder|stage 0is bladder urothelial cancer|urinary bladder carcinoma in situ|stage 0is bladder cancer|stage 0is carcinoma of bladder|flat carcinoma in situ of the bladder|stage 0is bladder urothelial carcinoma aJCC v7|bladder flat CIS|stage 0is urinary bladder carcinoma|carcinoma in situ of urinary bladder|stage 0is bladder urothelial carcinoma aJCC v6|carcinoma in situ of the urinary bladder|cancer in situ of urinary bladder|urinary bladder flat carcinoma in situ|high grade bladder Intraurothelial neoplasia|bladder Ca in situ|flat CIS of the urinary bladder|carcinoma in situ of bladder	http://purl.obolibrary.org/obo/MONDO_0004703	http://identifiers.org/snomedct/92546004|DOID:9053|UMLS:C0154091|http://purl.bioontology.org/ontology/ICD10CM/D09.0|NCIT:C3644	
MONDO:0004700	biolink:Disease	parotid gland cancer	A primary or metastatic malignant neoplasm involving the parotid gland. Representative examples include carcinoma, malignant mixed tumor, and non-Hodgkin lymphoma.	UMLS:C0747273|MESH:D010307|SCTID:363379000|DOID:9036|NCIT:C3525|ICD9:142.0	mondo.json	malignant tumor of the parotid gland|cancer of parotid gland|malignant tumor of parotid gland|cancer of the parotid gland|malignant tumor of the parotid|malignant tumor of parotid|malignant neoplasm of the parotid|cancer of the parotid|cancer of parotid|malignant parotid gland neoplasm|malignant parotid neoplasm|malignant neoplasm of parotid gland|parotid gland cancer|malignant neoplasm of the parotid gland|malignant parotid gland tumor|malignant neoplasm of parotid|malignant parotid tumor|parotid cancer	http://purl.obolibrary.org/obo/MONDO_0004700	UMLS:C0747273|http://identifiers.org/mesh/D010307|DOID:9036|http://identifiers.org/snomedct/363379000|NCIT:C3525	
UBERON:0001318	biolink:AnatomicalEntity	inferior vesical vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001318		
UBERON:0003978	biolink:AnatomicalEntity	valve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003978		
UBERON:0001317	biolink:AnatomicalEntity	internal iliac vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001317		
NCBITaxon:69034	biolink:OrganismalEntity	Rotaliidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_69034		
UBERON:0001323	biolink:AnatomicalEntity	tibial nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001323		
UBERON:0001322	biolink:AnatomicalEntity	sciatic nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001322		
UBERON:0003984	biolink:AnatomicalEntity	uterine tube infundibulum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003984		
UBERON:0001325	biolink:AnatomicalEntity	muscle of pelvis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001325		
UBERON:0001324	biolink:AnatomicalEntity	common fibular nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001324		
UBERON:0003983	biolink:AnatomicalEntity	conus arteriosus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003983		
UBERON:0003980	biolink:AnatomicalEntity	cerebellum fissure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003980		
HGNC:16171	biolink:NamedThing	CHMP4B			mondo.json		http://identifiers.org/hgnc/16171		
PATO:0001739	biolink:NamedThing	radiation quality	A quality that inheres in an bearer by virtue of how that bearer interacts with radiation.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001739		
PATO:0001735	biolink:NamedThing	liquid configuration	A physical quality inhering in a bearer by virtue of the bearer's parts having the arrangement which exhibits characteristics of liquids.		mondo.json	liquid	http://purl.obolibrary.org/obo/PATO_0001735		
HP:0007663	biolink:PhenotypicFeature	Reduced visual acuity		UMLS:C0234632|SNOMEDCT_US:13164000	mondo.json	Decreased clarity of vision|Decreased visual acuity|Decreased central vision|Poor visual acuity	http://purl.obolibrary.org/obo/HP_0007663		
HGNC:16175	biolink:NamedThing	RSPO4			mondo.json		http://identifiers.org/hgnc/16175		
PATO:0001748	biolink:NamedThing	invaginated	A shape quality in which a portion of the outermost boundary of an entity folds in space such that a portion that was originally convex is now concave.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001748		
HGNC:28163	biolink:NamedThing	CCDC28B			mondo.json		http://identifiers.org/hgnc/28163		
HGNC:16187	biolink:NamedThing	SLC52A3			mondo.json		http://identifiers.org/hgnc/16187		
PATO:0001759	biolink:NamedThing	granular	A composition quality inhering in a bearer by virtue of the bearer's containing granules.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001759		
MONDO:0014093	biolink:Disease	retinitis pigmentosa 66	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene.	UMLS:C3715216|DOID:0110393|OMIM:615233|ICD10CM:H35.5	mondo.json	RBP3 retinitis pigmentosa|retinitis pigmentosa type 66|retinitis pigmentosa 66|retinitis pigmentosa caused by mutation in RBP3|RP66	http://purl.obolibrary.org/obo/MONDO_0014093	DOID:0110393|https://omim.org/entry/615233|UMLS:C3715216	
MONDO:0014092	biolink:Disease	schizophrenia 18	A schizophrenia that has material basis in a mutation of SLC1A1 on chromosome 9p24.2.	UMLS:C3808913|DOID:0070093|OMIM:615232	mondo.json	schizophrenia 18|schizophrenia type 18|SCZD18|schizophrenia susceptibility 18|chromosome 7q36.3 Duplication syndrome, 362-Kb|schizophrenia 18 with or without an affective disorder|schizoaffective disorder	http://purl.obolibrary.org/obo/MONDO_0014092	https://omim.org/entry/615232|UMLS:C3808913|DOID:0070093	
MONDO:0014091	biolink:Disease	mitochondrial complex V (ATP synthase) deficiency nuclear type 4	Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene.	DOID:0060333|OMIM:615228|UMLS:C3808899	mondo.json	ATP5F1A mitochondrial complex deficiency|mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 4|mitochondrial complex deficiency caused by mutation in ATP5F1A|mitochondrial Complex 5 (ATP synthase) deficiency, ATP5A1 type|MC5DN4|mitochondrial complex V (ATP synthase) deficiency, nuclear type 4	http://purl.obolibrary.org/obo/MONDO_0014091	https://omim.org/entry/615228|DOID:0060333|UMLS:C3808899	
MONDO:0014090	biolink:Disease	polydactyly, postaxial, type A6		OMIM:615226|UMLS:C3808889	mondo.json	PAPA6|polydactyly, postaxial, type A6	http://purl.obolibrary.org/obo/MONDO_0014090	https://omim.org/entry/615226|UMLS:C3808889	
MONDO:0014097	biolink:Disease	congenital short bowel syndrome	Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.	SCTID:715201005|Orphanet:2301	mondo.json	CSBS|congenital short bowel syndrome	http://purl.obolibrary.org/obo/MONDO_0014097	http://identifiers.org/snomedct/715201005|Orphanet:2301	ordo_morphological_anomaly
MONDO:0014096	biolink:Disease	microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome	This syndrome is characterised by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes).	SCTID:719396000|OMIM:615236|UMLS:C0796203|GARD:0003498|Orphanet:137658	mondo.json	Woods-Crouchman-Huson syndrome|WOODS syndrome	http://purl.obolibrary.org/obo/MONDO_0014096	https://omim.org/entry/615236|UMLS:C0796203|http://identifiers.org/snomedct/719396000	ordo_malformation_syndrome|gard_rare
MONDO:0014095	biolink:Disease	dilated cardiomyopathy 1JJ	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the LAMA4 gene.	OMIM:615235|DOID:0110438|UMLS:C3808935	mondo.json	dilated cardiomyopathy type 1JJ|CMD1JJ|cardiomyopathy, dilated, type 1Jj|familial isolated dilated cardiomyopathy caused by mutation in LAMA4|LAMA4 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1JJ	http://purl.obolibrary.org/obo/MONDO_0014095	https://omim.org/entry/615235|DOID:0110438|UMLS:C3808935	
MONDO:0014094	biolink:Disease	severe congenital hypochromic anemia with ringed sideroblasts	STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels.	SCTID:725463007|OMIM:615234|Orphanet:300298|UMLS:C3808920|UMLS:C4511137	mondo.json	severe congenital hypochromic sideroblastic anemia|AHMIO2|anemia, hypochromic microcytic, with iron overload type 2|anemia, hypochromic microcytic, with iron overload 2	http://purl.obolibrary.org/obo/MONDO_0014094	https://omim.org/entry/615234|UMLS:C4511137|Orphanet:300298|UMLS:C3808920|http://identifiers.org/snomedct/725463007	ordo_disease
MONDO:0014099	biolink:Disease	nephrotic syndrome, type 8	Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene.	DOID:0080389|UMLS:C3808953|OMIM:615244	mondo.json	nephrotic syndrome caused by mutation in ARHGDIA|nephrotic syndrome, type 8|ARHGDIA nephrotic syndrome|NPHS8	http://purl.obolibrary.org/obo/MONDO_0014099	DOID:0080389|https://omim.org/entry/615244|UMLS:C3808953	
MONDO:0014098	biolink:Disease	CIDEC-related familial partial lipodystrophy		UMLS:C3808940|DOID:0070203|OMIM:615238|GARD:0013125|Orphanet:435651	mondo.json	CIDEC-related FPLD|lipodystrophy, familial partial, type 5|FPLD5|CIDEC-related familial partial lipodystrophy|lipodystrophy, familial partial, associated with Cidec mutations	http://purl.obolibrary.org/obo/MONDO_0014098	https://omim.org/entry/615238|Orphanet:435651|UMLS:C3808940|DOID:0070203	ordo_disease
HGNC:18791	biolink:NamedThing	ZFP57			mondo.json		http://identifiers.org/hgnc/18791		
UBERON:0003928	biolink:AnatomicalEntity	digestive system duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003928		
NCBITaxon:694017	biolink:OrganismalEntity	Torovirinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_694017		
UBERON:0003929	biolink:AnatomicalEntity	digestive tract epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003929		
NCBITaxon:694014	biolink:OrganismalEntity	Avian coronavirus		GC_ID:1	mondo.json	ACoV	http://purl.obolibrary.org/obo/NCBITaxon_694014		
UBERON:0003924	biolink:AnatomicalEntity	ventral pancreatic bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003924		
NCBITaxon:694013	biolink:OrganismalEntity	Gammacoronavirus		GC_ID:1	mondo.json	Coronavirus group 3|Coronavirus|Group 3 species	http://purl.obolibrary.org/obo/NCBITaxon_694013		
UBERON:0003922	biolink:AnatomicalEntity	pancreatic epithelial bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003922		
UBERON:0003923	biolink:AnatomicalEntity	dorsal pancreatic bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003923		
CHEBI:46195	biolink:ChemicalSubstance	paracetamol	A member of the class of phenols that is 4-aminophenol in which one of the hydrogens attached to the amino group has been replaced by an acetyl group.		mondo.json	Tylenol|Panadol|4-(Acetylamino)phenol|4-acetamidophenol|N-(4-hydroxyphenyl)acetamide|p-Acetylaminophenol|p-hydroxyphenolacetamide|paracetamol|p-acetamidophenol|Acenol|acetaminophene|p-hydroxyacetanilide|N-acetyl-p-aminophenol|paracetamolum|4'-hydroxyacetanilide|Acetaminofen|acetaminofen|Paracetamol|Acetaminophen|APAP|p-acetaminophenol	http://purl.obolibrary.org/obo/CHEBI_46195		
NCBITaxon:11709	biolink:OrganismalEntity	Human immunodeficiency virus 2		GC_ID:1	mondo.json	HIV-2|HIV type 2|Human immunodeficiency virus type 2|AIDS virus|HIV2|human immunodeficiency virus type 2, HIV-2|human immunodeficiency virus type 2 HIV-2|LAV-2|Human immunodeficiency virus-2|HIV	http://purl.obolibrary.org/obo/NCBITaxon_11709		
UBERON:0003931	biolink:AnatomicalEntity	diencephalic white matter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003931		
UBERON:0003932	biolink:AnatomicalEntity	cartilage element of chondrocranium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003932		
HGNC:16133	biolink:NamedThing	TBC1D20			mondo.json		http://identifiers.org/hgnc/16133		
UBERON:0003918	biolink:AnatomicalEntity	kidney mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003918		
UBERON:0003915	biolink:AnatomicalEntity	endothelial tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003915		
UBERON:0003916	biolink:AnatomicalEntity	fat pad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003916		
UBERON:0003913	biolink:AnatomicalEntity	tooth-like structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003913		
UBERON:0003914	biolink:AnatomicalEntity	epithelial tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003914		
UBERON:0003911	biolink:AnatomicalEntity	choroid plexus epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003911		
UBERON:0003920	biolink:AnatomicalEntity	venous blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003920		
UBERON:0003921	biolink:AnatomicalEntity	pancreas primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003921		
UBERON:0003902	biolink:AnatomicalEntity	retinal neural layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003902		
UBERON:0003909	biolink:AnatomicalEntity	sinusoid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003909		
UBERON:0003910	biolink:AnatomicalEntity	splenic sinusoid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003910		
NCBITaxon:694002	biolink:OrganismalEntity	Betacoronavirus		GC_ID:1	mondo.json	Coronavirus group 2|Coronavirus|Group 2 species	http://purl.obolibrary.org/obo/NCBITaxon_694002		
NCBITaxon:694009	biolink:OrganismalEntity	Severe acute respiratory syndrome-related coronavirus		GC_ID:1	mondo.json	SARSr-CoV|SARS-like coronavirus|SARS|Human coronavirus (strain SARS)|HCoV-SARS|SARS-related coronavirus|SARSrCoV	http://purl.obolibrary.org/obo/NCBITaxon_694009		
HGNC:18782	biolink:NamedThing	CCDC6			mondo.json		http://identifiers.org/hgnc/18782		
MONDO:0002178	biolink:Disease	placenta cancer	A malignant neoplasm involving the placenta.	UMLS:C0153572|DOID:2021|ICD9:239.5|NCIT:C3555|SCTID:126920004|ICD9:181	mondo.json	placental tumors|malignant neoplasm of placenta|malignant placenta neoplasm|malignant placenta tumor|malignant neoplasm of the placenta|placental cancer|deciduoma, malignant|malignant placental neoplasm|malignant placental tumor|cancer of placenta|primary malignant neoplasm of placenta|malignant tumor of placenta|malignant tumor of the placenta|placenta cancer	http://purl.obolibrary.org/obo/MONDO_0002178	DOID:2021|http://identifiers.org/snomedct/126920004|UMLS:C0153572|NCIT:C3555	
MONDO:0002179	biolink:Disease	obsolete placental choriocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002179		
GO:1901569	biolink:NamedThing	fatty acid derivative catabolic process	The chemical reactions and pathways resulting in the breakdown of fatty acid derivative.		mondo.json	fatty acid derivative degradation|fatty acid derivative breakdown|fatty acid derivative catabolism	http://purl.obolibrary.org/obo/GO_1901569		
MONDO:0002174	biolink:Disease	preretinal fibrosis	A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) retinal pigment epithelial cells. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the fovea centralis. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with retinal holes, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291)	MESH:D019773|DOID:2006|SCTID:367649002|ICD9:362.89|ICD9:362.56	mondo.json	macular retinal puckering|cellophane maculopathy|macular puckering of retina	http://purl.obolibrary.org/obo/MONDO_0002174	http://identifiers.org/mesh/D019773|http://identifiers.org/snomedct/367649002|DOID:2006	
MONDO:0026141	biolink:Disease	obsolete genetic urticaria		Orphanet:182734	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026141	Orphanet:182734	
MONDO:0002175	biolink:Disease	degeneration of macula and posterior pole		ICD10CM:H35.3|UMLS:C0339436|SCTID:267611002|ICD9:362.5|DOID:2007	mondo.json	degeneration of macula or posterior pole|degeneration of macula and posterior pole of retina	http://purl.obolibrary.org/obo/MONDO_0002175	http://purl.bioontology.org/ontology/ICD10CM/H35.3|http://identifiers.org/snomedct/267611002|UMLS:C0339436|DOID:2007	
GO:1901568	biolink:NamedThing	fatty acid derivative metabolic process	The chemical reactions and pathways involving fatty acid derivative.		mondo.json	fatty acid derivative metabolism	http://purl.obolibrary.org/obo/GO_1901568		
GO:1901565	biolink:NamedThing	organonitrogen compound catabolic process	The chemical reactions and pathways resulting in the breakdown of organonitrogen compound.		mondo.json	organonitrogen compound catabolism|organonitrogen compound degradation|organonitrogen compound breakdown	http://purl.obolibrary.org/obo/GO_1901565		
MONDO:0002176	biolink:Disease	obsolete connective tissue cancer	OBSOLETE. A malignant neoplasm involving the connective tissue	DOID:201|SCTID:126598008|MESH:D009372|UMLS:C0027656	mondo.json	malignant connective tissue neoplasm|connective tissue neoplasm|cancer of connective tissue|neoplasm of connective tissues|malignant neoplasm of connective tissue|connective tissue cancer	http://purl.obolibrary.org/obo/MONDO_0002176	DOID:201	
MONDO:0002177	biolink:Disease	hyperinsulinism	Abnormally high levels of insulin in the blood.	ICD9:251.1|SCTID:83469008|UMLS:C0020459|DOID:2018|MESH:D006946|HP:0000842	mondo.json	hyperinsulinism (disease)|hyperinsulinemia|hyperinsulinism	http://purl.obolibrary.org/obo/MONDO_0002177	http://identifiers.org/mesh/D006946|UMLS:C0020459|http://identifiers.org/snomedct/83469008|DOID:2018	
GO:1901566	biolink:NamedThing	organonitrogen compound biosynthetic process	The chemical reactions and pathways resulting in the formation of organonitrogen compound.		mondo.json	organonitrogen compound anabolism|organonitrogen compound biosynthesis|organonitrogen compound synthesis|organonitrogen compound formation	http://purl.obolibrary.org/obo/GO_1901566		
MONDO:0002170	biolink:Disease	chronic eustachian salpingitis	Chronic form of otosalpingitis.	ICD9:381.52|DOID:1999|SCTID:194269002|UMLS:C0155430	mondo.json	chronic otosalpingitis|chronic eustachian tube salpingitis|otosalpingitis, chronic	http://purl.obolibrary.org/obo/MONDO_0002170	http://identifiers.org/snomedct/194269002|DOID:1999|UMLS:C0155430	
MONDO:0002171	biolink:Disease	giant cell tumor	A benign, intermediate, or malignant tumor that arises from the bone or soft tissue. It is characterized by the presence of multinucleated osteoclast-like giant cells.	DOID:200|UMLS:C0017525|SCTID:443790001|NCIT:C3055|MESH:D005870	mondo.json	giant cell tumor|tumor of the giant cell|giant cell tumor NOS (morphologic abnormality)|giant cell tumor (qualifier value)|giant cell tumors|giant cell tumor (morphologic abnormality)|giant cell tumors (morphologic abnormality)|giant cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0002171	http://identifiers.org/mesh/D005870|UMLS:C0017525|NCIT:C3055|http://identifiers.org/snomedct/443790001|DOID:200	
GO:1901564	biolink:NamedThing	organonitrogen compound metabolic process	The chemical reactions and pathways involving organonitrogen compound.		mondo.json	organonitrogen compound metabolism	http://purl.obolibrary.org/obo/GO_1901564		
MONDO:0002172	biolink:Disease	otosalpingitis	An inflammatory disease involving a pathogenic inflammatory response in the pharyngotympanic tube.	ICD9:381.5|SCTID:270491006|ICD10CM:H68.0|ICD9:381.50|UMLS:C0155428|DOID:2000	mondo.json	inflammation of pharyngotympanic tube|Eustachian tube salpingitis|Eustachian salpingitis|pharyngotympanic tube inflammation	http://purl.obolibrary.org/obo/MONDO_0002172	http://identifiers.org/snomedct/270491006|http://purl.bioontology.org/ontology/ICD10CM/H68.0|DOID:2000|UMLS:C0155428	
MONDO:0002173	biolink:Disease	neuroma	A tumor that grows from a nerve or is composed of nerve cells and nerve fibers.	NCIT:C3275|ICDO:9570/0|SCTID:443892003|UMLS:C0027858|DOID:2001|MESH:D009463|ICD9:215.9	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002173	NCIT:C3275|http://identifiers.org/snomedct/443892003|UMLS:C0027858|http://identifiers.org/mesh/D009463|DOID:2001	
GO:0060474	biolink:NamedThing	positive regulation of flagellated sperm motility involved in capacitation	The process in which the controlled movement of a flagellated sperm cell is initiated as part of the process required for flagellated sperm to reach fertilization competence.		mondo.json	positive regulation of sperm motility involved in capacitation	http://purl.obolibrary.org/obo/GO_0060474		
MONDO:0014169	biolink:Disease	dyschromatosis universalis hereditaria 3	Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene.	UMLS:C3809394|OMIM:615402	mondo.json	dyschromatosis universalis hereditaria caused by mutation in ABCB6|dyschromatosis universalis hereditaria 3|dyschromatosis universalis hereditaria type 3|DUH3|ABCB6 dyschromatosis universalis hereditaria	http://purl.obolibrary.org/obo/MONDO_0014169	UMLS:C3809394|https://omim.org/entry/615402	
MONDO:0014168	biolink:Disease	severe combined immunodeficiency due to CORO1A deficiency		UMLS:C3809383|Orphanet:228003|DOID:0060019|OMIM:615401	mondo.json	IMD8|severe combined immunodeficiency due to coronin-1A deficiency|SCID due to coronin-1A deficiency|coronin-1A deficiency|immunodeficiency 8|severe combined immunodeficiency due to CORO1A deficiency|SCID due to CORO1A deficiency|immunodeficiency type 8	http://purl.obolibrary.org/obo/MONDO_0014168	https://omim.org/entry/615401|DOID:0060019|UMLS:C3809383|Orphanet:228003	ordo_disease
MONDO:0041775	biolink:Disease	intraoperative floppy iris syndrome		UMLS:C1688637|SCTID:418801006	mondo.json	intraoperative floppy iris syndrome	http://purl.obolibrary.org/obo/MONDO_0041775	http://identifiers.org/snomedct/418801006|UMLS:C1688637	
MONDO:0014163	biolink:Disease	left ventricular noncompaction 10	Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene.	UMLS:C3715165|OMIM:615396	mondo.json	MYBPC3 left ventricular noncompaction|left ventricular noncompaction caused by mutation in MYBPC3|left ventricular noncompaction 10|left ventricular noncompaction type 10|cardiomyopathy, dilated, 1Mm|LVNC10	http://purl.obolibrary.org/obo/MONDO_0014163	UMLS:C3715165|https://omim.org/entry/615396	
MONDO:0014162	biolink:Disease	infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.	OMIM:615395|Orphanet:352563|UMLS:C3809339|DOID:0111469|GARD:0012892	mondo.json	combined oxidative phosphorylation defect type 16|combined oxidative phosphorylation deficiency 16|MRPL44 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in MRPL44|combined oxidative phosphorylation deficiency type 16|COXPD16	http://purl.obolibrary.org/obo/MONDO_0014162	Orphanet:352563|DOID:0111469|https://omim.org/entry/615395|UMLS:C3809339	ordo_disease
MONDO:0014161	biolink:Disease	vesicoureteral reflux 7		OMIM:615390|UMLS:C3809337	mondo.json	VUR7|vesicoureteral reflux 7	http://purl.obolibrary.org/obo/MONDO_0014161	UMLS:C3809337|https://omim.org/entry/615390	
MONDO:0014160	biolink:Disease	TCR-alpha-beta-positive T-cell deficiency	A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta.	Orphanet:397959|UMLS:C3809332|DOID:0111977|OMIM:615387	mondo.json	T-cell receptor-ALPHA/BETA deficiency|TCR-alpha-beta+ T-cell deficiency|immunodeficiency 7, TCR-alpha/beta deficient|TCR-Alpha/Beta deficiency|IMD7|immunodeficiency 7	http://purl.obolibrary.org/obo/MONDO_0014160	Orphanet:397959|https://omim.org/entry/615387|DOID:0111977|UMLS:C3809332	ordo_disease
MONDO:0014167	biolink:Disease	epilepsy, familial adult myoclonic, 5	Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene.	OMIM:615400|DOID:0111691|UMLS:C3809374	mondo.json	epilepsy, myoclonic, familial adult, 5|epilepsy, familial ADULT myoclonic, 5|epilepsy, familial adult myoclonic, 5|epilepsy, familial adult myoclonic, type 5|epilepsy, familial adult myoclonic caused by mutation in CNTN2|FAME5|CNTN2 epilepsy, familial adult myoclonic|cortical myoclonic tremor with epilepsy, familial, 5	http://purl.obolibrary.org/obo/MONDO_0014167	https://omim.org/entry/615400|UMLS:C3809374|DOID:0111691	
MONDO:0014166	biolink:Disease	paroxysmal nocturnal hemoglobinuria 2	Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene.	OMIM:615399|UMLS:C3809369	mondo.json	paroxysmal nocturnal hemoglobinuria caused by mutation in PIGT|PNH2|PIGT paroxysmal nocturnal hemoglobinuria|paroxysmal nocturnal hemoglobinuria 2, autosomal dominant, somatic mutation|paroxysmal nocturnal hemoglobinuria 2|paroxysmal nocturnal hemoglobinuria type 2	http://purl.obolibrary.org/obo/MONDO_0014166	https://omim.org/entry/615399|UMLS:C3809369	
HGNC:18873	biolink:NamedThing	IFIH1			mondo.json		http://identifiers.org/hgnc/18873		
MONDO:0014165	biolink:Disease	multiple congenital anomalies-hypotonia-seizures syndrome 3	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.	DOID:0080140|OMIM:615398|UMLS:C3809356|Orphanet:369837	mondo.json	multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT|congenital disorder of glycosylation due to PIGT deficiency|multiple congenital anomalies-hypotonia-seizures syndrome 3|PIGT-CDG|multiple congenital anomalies-hypotonia-seizures syndrome type 3|glycosylphosphatidylinositol biosynthesis defect 7|PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability|intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome|MCAHS type 3|MCAHS3	http://purl.obolibrary.org/obo/MONDO_0014165	DOID:0080140|Orphanet:369837|UMLS:C3809356|https://omim.org/entry/615398	ordo_malformation_syndrome
MONDO:0014164	biolink:Disease	Meckel syndrome, type 11	Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene.	OMIM:615397|UMLS:C3809352	mondo.json	MKS11|Meckel syndrome, type 11|TMEM231 Meckel syndrome|Meckel syndrome caused by mutation in TMEM231|meckel syndrome 11	http://purl.obolibrary.org/obo/MONDO_0014164	https://omim.org/entry/615397|UMLS:C3809352	
HGNC:18871	biolink:NamedThing	MMAA			mondo.json		http://identifiers.org/hgnc/18871		
MONDO:0002189	biolink:Disease	nodular hidradenoma	A benign epithelial neoplasm arising from the sweat glands. It presents as a nodular lesion usually in the scalp, trunk, and proximal extremities. It is characterized by a nodular growth pattern. Complete excision is curative.	SCTID:253020008|NCIT:C7568|DOID:2061|ICDO:8402/0	mondo.json	eccrine nodular hidradenoma|solid and cystic hidradenoma|nodular hidradenoma	http://purl.obolibrary.org/obo/MONDO_0002189	http://identifiers.org/snomedct/253020008|DOID:2061|NCIT:C7568	
HGNC:28209	biolink:NamedThing	CEP19			mondo.json		http://identifiers.org/hgnc/28209		
MONDO:0002185	biolink:Disease	hyperostosis	Excessive thickening of bone.	ICD9:733.99|SCTID:203514008|UMLS:C0020492|MESH:D015576|DOID:205|NCIT:C34712	mondo.json	hypertrophy of bone|bone hypertrophy|hypertrophy of bone (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0002185	UMLS:C0020492|http://identifiers.org/snomedct/203514008|http://identifiers.org/mesh/D015576|DOID:205|NCIT:C34712	
MONDO:0002186	biolink:Disease	acute maxillary sinusitis	Acute form of maxillary sinusitis.	UMLS:C0155804|DOID:2050|ICD9:461.0|SCTID:68272006|ICD10CM:J01.0	mondo.json	maxillary sinusitis, acute|acute antritis	http://purl.obolibrary.org/obo/MONDO_0002186	UMLS:C0155804|http://identifiers.org/snomedct/68272006|DOID:2050|http://purl.bioontology.org/ontology/ICD10CM/J01.0	
MONDO:0002187	biolink:Disease	vulvar disease	A non-neoplastic or neoplastic disorder that affects the vulva. Representative examples include infection, Bartholin gland adenoma, and vulvar carcinoma.	NCIT:C27631|UMLS:C0042994|SCTID:5089007|DOID:2059|MESH:D014845	mondo.json	vulval disorder|vulvar disease|vulvar disorder|disorder of vulva	http://purl.obolibrary.org/obo/MONDO_0002187	NCIT:C27631|http://identifiers.org/snomedct/5089007|http://identifiers.org/mesh/D014845|DOID:2059|UMLS:C0042994	
GO:1901576	biolink:NamedThing	organic substance biosynthetic process	The chemical reactions and pathways resulting in the formation of an organic substance, any molecular entity containing carbon.		mondo.json	organic molecular entity formation|organic molecular entity biosynthetic process|organic molecular entity biosynthesis|organic substance anabolism|organic substance biosynthesis|organic molecular entity anabolism|organic substance synthesis|organic molecular entity synthesis|organic substance formation	http://purl.obolibrary.org/obo/GO_1901576		
MONDO:0002188	biolink:Disease	vulvar nodular hidradenoma	A benign neoplasm that arises from sweat glands in the vulva and is characterized by the presence of lobules composed of epithelial cells with clear cytoplasm.	NCIT:C40312|DOID:2060|UMLS:C1520091	mondo.json	nodular hidradenoma of mammalian vulva|mammalian vulva nodular hidradenoma|vulvar nodular hidradenoma	http://purl.obolibrary.org/obo/MONDO_0002188	UMLS:C1520091|NCIT:C40312|DOID:2060	
MONDO:0002181	biolink:Disease	exostosis	Non-neoplastic overgrowth of bone.	NCIT:C3029|UMLS:C1442903|ICD9:726.91|SCTID:235231000119100|DOID:203|UMLS:C1956089|SCTID:416189003	mondo.json	orbital exostosis|bone spur|bone osteophyte|exostosis|swimmer's exostosis|bony outgrowth|osteophyte	http://purl.obolibrary.org/obo/MONDO_0002181	NCIT:C3029|UMLS:C1442903|http://identifiers.org/snomedct/235231000119100|DOID:203|UMLS:C1956089|http://identifiers.org/snomedct/416189003	
GO:1901575	biolink:NamedThing	organic substance catabolic process	The chemical reactions and pathways resulting in the breakdown of an organic substance, any molecular entity containing carbon.		mondo.json	organic molecular entity breakdown|organic molecular entity catabolism|organic molecular entity catabolic process|organic substance catabolism|organic substance degradation|organic molecular entity degradation|organic substance breakdown	http://purl.obolibrary.org/obo/GO_1901575		
MONDO:0002182	biolink:Disease	communication disorder	A disorder characterized by an individual's inability to comprehend or share ideas or feelings because of an impairment in language, speech, or hearing.	SCTID:278919001|MESH:D003147|ICD9:307.9|NCIT:C2958|DOID:2033	mondo.json	communicative disorders	http://purl.obolibrary.org/obo/MONDO_0002182	http://identifiers.org/mesh/D003147|NCIT:C2958|http://identifiers.org/snomedct/278919001|DOID:2033	gard_rare
MONDO:0002183	biolink:Disease	enthesopathy	A disorder involving the attachment of a tendon or ligament to a bone	MESH:D012216|SCTID:23680005|UMLS:C0242490|MESH:D000070676|ICD9:726.90|DOID:204|ICD9:726.9	mondo.json	disease or disorder of enthesis|disorder of enthesis|disease of enthesis|enthesis disease|enthesis disease or disorder	http://purl.obolibrary.org/obo/MONDO_0002183	http://identifiers.org/snomedct/23680005|UMLS:C0242490|DOID:204|http://identifiers.org/mesh/D000070676	
MONDO:0028795	biolink:Disease	obsolete rare genetic systemic or rheumatologic disease		Orphanet:271870	mondo.json		http://purl.obolibrary.org/obo/MONDO_0028795	Orphanet:271870	
MONDO:0002184	biolink:Disease	drug-induced hepatitis	Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite.	SCTID:235889003|EFO:1000905|DOID:2044	mondo.json	drug-induced chronic hepatitis	http://purl.obolibrary.org/obo/MONDO_0002184	http://identifiers.org/snomedct/235889003|DOID:2044	
MONDO:0014159	biolink:Disease	autosomal recessive spinocerebellar ataxia 14	Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).	OMIM:615386|UMLS:C3809327|SCTID:763351003|Orphanet:352403|DOID:0080058	mondo.json	autosomal recessive cerebellar ataxia caused by mutation in SPTBN2|autosomal recessive cerebellar ataxia-cognitive defect syndrome|SCAR14|cerebellar ataxia, autosomal recessive, spectrin-associated, 1|spinocerebellar ataxia, autosomal recessive 14|SPARCA1|infantile-onset spinocerebellar ataxia-psychomotor delay syndrome|autosomal recessive spinocerebellar ataxia type 14|spectrin-associated autosomal recessive cerebellar ataxia type 1|SPTBN2 autosomal recessive cerebellar ataxia|spectrin-associated autosomal recessive cerebellar ataxia|SPARCA|spinocerebellar ataxia, autosomal recessive type 14|Ataxie spinocérébelleuse à début infantile avec retard psychomoteur	http://purl.obolibrary.org/obo/MONDO_0014159	http://identifiers.org/snomedct/763351003|https://omim.org/entry/615386|UMLS:C3809327|Orphanet:352403|DOID:0080058	ordo_disease
MONDO:0014158	biolink:Disease	nephronophthisis 16	Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene.	Orphanet:93591|OMIM:615382|SCTID:444558002|DOID:0111124|UMLS:C3809320	mondo.json	infantile nephronophthisis|nephronophthisis (disease) caused by mutation in ANKS6|nephronophthisis 16|NPHP16|nephronophthisis type 16|autosomal recessive infantile nephronophthisis|ANKS6 nephronophthisis (disease)|autosomal recessive infantile NPHP	http://purl.obolibrary.org/obo/MONDO_0014158	UMLS:C3809320|https://omim.org/entry/615382|http://identifiers.org/snomedct/444558002|DOID:0111124	ordo_clinical_subtype
MONDO:0014157	biolink:Disease	mandibular hypoplasia-deafness-progeroid syndrome		Orphanet:363649|GARD:0010989|UMLS:C3715192|OMIM:615381	mondo.json	MDPL|mandibular hypoplasia-hearing loss-progeroid syndrome|MDP syndrome|mandibular hypoplasia, deafness, progeroid features|mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0014157	https://omim.org/entry/615381|UMLS:C3715192|Orphanet:363649	ordo_disease
MONDO:0002180	biolink:Disease	obsolete gestational choriocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002180		
GO:0060467	biolink:NamedThing	negative regulation of fertilization	Any process that decreases the rate, frequency or extent of fertilization. Fertilization is the union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy).		mondo.json		http://purl.obolibrary.org/obo/GO_0060467		
MONDO:0014152	biolink:Disease	left ventricular noncompaction 8	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PRDM16 gene.	OMIM:615373|UMLS:C3809288	mondo.json	LVNC8|familial isolated dilated cardiomyopathy caused by mutation in PRDM16|left ventricular noncompaction type 8|PRDM16 familial isolated dilated cardiomyopathy|left ventricular noncompaction 8|cardiomyopathy, dilated, 1Ll	http://purl.obolibrary.org/obo/MONDO_0014152	UMLS:C3809288|https://omim.org/entry/615373	
MONDO:0014151	biolink:Disease	pulmonary hypertension, neonatal, susceptibility to		UMLS:C0032768|OMIM:615371	mondo.json	pulmonary hypertension, neonatal, susceptibility to|PHN|susceptibility to neonatal pulmonary hypertension	http://purl.obolibrary.org/obo/MONDO_0014151	https://omim.org/entry/615371	predisposition
MONDO:0014150	biolink:Disease	developmental and epileptic encephalopathy 94	An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.	GARD:0013197|OMIM:615369|UMLS:C3809278|DOID:0060475	mondo.json	CHD2 myoclonic encephalopathy|developmental and epileptic encephalopathy 94|CHCHD10-related disorders|EEOC|childhood onset epileptic encephalopathy|epileptic encephalopathy, childhood-onset|childhood-onset epileptic encephalopathy|DEE94	http://purl.obolibrary.org/obo/MONDO_0014150	DOID:0060475|UMLS:C3809278|https://omim.org/entry/615369	
MONDO:0014156	biolink:Disease	atrial fibrillation, familial, 14	Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene.	OMIM:615378|UMLS:C3809312	mondo.json	atrial fibrillation, familial, 14|atrial fibrillation, familial, type 14|SCN2B familial atrial fibrillation|ATFB14|familial atrial fibrillation caused by mutation in SCN2B	http://purl.obolibrary.org/obo/MONDO_0014156	UMLS:C3809312|https://omim.org/entry/615378	
MONDO:0014155	biolink:Disease	atrial fibrillation, familial, 13	Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene.	OMIM:615377|UMLS:C3809311	mondo.json	atrial fibrillation, familial, type 13|SCN1B familial atrial fibrillation|ATFB13|familial atrial fibrillation caused by mutation in SCN1B|atrial fibrillation, familial, 13	http://purl.obolibrary.org/obo/MONDO_0014155	https://omim.org/entry/615377|UMLS:C3809311	
HGNC:18884	biolink:NamedThing	TDP1			mondo.json		http://identifiers.org/hgnc/18884		
MONDO:0014154	biolink:Disease	Charcot-Marie-Tooth disease recessive intermediate C	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.	UMLS:C3809309|Orphanet:369867|DOID:0110198|OMIM:615376	mondo.json	CMTRIC|RI-CMT type C|Charcot-Marie-Tooth disease, recessive intermediate C|Charcot-Marie-Tooth disease recessive intermediate type C|Charcot-Marie-Tooth neuropathy, recessive Intermediate C|PLEKHG5 Charcot-Marie-Tooth disease|RI-CMTC|autosomal recessive intermediate Charcot-Marie-Tooth disease type C|Charcot-Marie-Tooth disease, recessive Intermediate type C|Charcot-Marie-Tooth disease caused by mutation in PLEKHG5	http://purl.obolibrary.org/obo/MONDO_0014154	UMLS:C3809309|https://omim.org/entry/615376|Orphanet:369867|DOID:0110198	ordo_disease
MONDO:0014153	biolink:Disease	cone-rod dystrophy 18	Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene.	DOID:0111024|UMLS:C3809299|OMIM:615374	mondo.json	CORD18|cone-rod dystrophy caused by mutation in RAB28|cone-rod dystrophy 18|cone-rod dystrophy type 18|RAB28 cone-rod dystrophy	http://purl.obolibrary.org/obo/MONDO_0014153	UMLS:C3809299|https://omim.org/entry/615374|DOID:0111024	
MONDO:0002156	biolink:Disease	fallopian tube disorder	A disease involving the fallopian tube.	UMLS:C0015556|NCIT:C26771|DOID:1962|SCTID:128134005|MESH:D005184	mondo.json	disease of fallopian tube|disease or disorder of fallopian tube|fallopian tube disease|fallopian tube disorder|fallopian tube disease or disorder|disorder of fallopian tube	http://purl.obolibrary.org/obo/MONDO_0002156	http://identifiers.org/snomedct/128134005|http://identifiers.org/mesh/D005184|NCIT:C26771|DOID:1962|UMLS:C0015556	
MONDO:0002157	biolink:Disease	obsolete fallopian tube carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002157		
MONDO:0002158	biolink:Disease	fallopian tube cancer	A primary or metastatic malignant neoplasm that affects the fallopian tube. Representative examples include carcinoma, carcinosarcoma, and leiomyosarcoma.	GARD:0009162|MedDRA:10025915|SCTID:363444001|UMLS:CN200469|UMLS:C0153579|Orphanet:180242|DOID:1964|ICD9:183.2|NCIT:C7480	mondo.json	malignant neoplasm of fallopian tube|malignant neoplasm of the fallopian tube|malignant fallopian tube tumor|cancer of fallopian tube|tubal cancer|fallopian tube malignant tumor|malignant tumour of fallopian tube|neoplasm, fallopian tube, malignant|fallopian tube cancer|malignant neoplasm of uterine tube|cancer of fallopian tubes|tumor of the fallopian tube|tumor, fallopian tube, malignant|malignant tumor of fallopian tube|malignant tumor of the fallopian tube|malignant tumor of fallopian tubes|malignant tubal tumor|malignant fallopian tube neoplasm|fallopian tube malignant neoplasm	http://purl.obolibrary.org/obo/MONDO_0002158	Orphanet:180242|UMLS:CN200469|NCIT:C7480|http://identifiers.org/snomedct/363444001|DOID:1964|UMLS:C0153579	ordo_disease
NCBITaxon:11723	biolink:OrganismalEntity	Simian immunodeficiency virus		GC_ID:1	mondo.json	simian immunodeficiency viruses SIV|Chimpanzee immunodeficiency virus (SIV(CPZ))|Chimpanzee immunodeficiency virus|Simian immunodeficiency virus SIVcpz|simian immunodeficiency virus, SIV|CIV|SIV|simian immunodeficiency virus SIV	http://purl.obolibrary.org/obo/NCBITaxon_11723		
MONDO:0002159	biolink:Disease	fallopian tube leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the fallopian tube. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C40128|UMLS:C1517116|DOID:1965	mondo.json	fallopian tube leiomyosarcoma|leiomyosarcoma of fallopian tube	http://purl.obolibrary.org/obo/MONDO_0002159	UMLS:C1517116|DOID:1965|NCIT:C40128	
MONDO:0002152	biolink:Disease	intermittent squint		UMLS:C0152210|ICD9:378.20|ICD9:378.2|DOID:1942|SCTID:74025007	mondo.json	intermittent heterotropia	http://purl.obolibrary.org/obo/MONDO_0002152	http://identifiers.org/snomedct/74025007|DOID:1942|UMLS:C0152210	
MONDO:0002153	biolink:Disease	telogen effluvium	A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress.	ICD9:704.02|NCIT:C112200|ICD10CM:L65.0|DOID:1943|SCTID:39479004|UMLS:C0263518	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002153	http://identifiers.org/snomedct/39479004|http://purl.bioontology.org/ontology/ICD10CM/L65.0|UMLS:C0263518|NCIT:C112200|DOID:1943	
MONDO:0002154	biolink:Disease	trichomoniasis	An infection that is caused by Trichomonas.	MESH:D014245|UMLS:C0040921|DOID:1947|ICD9:131.9|ICD9:131|SCTID:56335008|ICD10CM:A59|ICD9:131.8|NCIT:C35720	mondo.json	Trichomonas infection|infections, Trichomonas	http://purl.obolibrary.org/obo/MONDO_0002154	http://identifiers.org/snomedct/56335008|UMLS:C0040921|DOID:1947|http://identifiers.org/mesh/D014245|NCIT:C35720|http://purl.bioontology.org/ontology/ICD10CM/A59	
MONDO:0002155	biolink:Disease	cholecystitis	An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones.	SCTID:20824003|DOID:1949|GARD:0000030|ICD9:575.11|ICD9:575.10|MESH:D002764|NCIT:C34465	mondo.json	gall bladder inflammation|acute and chronic cholecystitis|acalculous cholecystitis|chronic cholecystitis|gallstone cholecystitis|acute on chronic cholecystitis|inflammation of gall bladder|acute cholecystitis	http://purl.obolibrary.org/obo/MONDO_0002155	DOID:1949|http://identifiers.org/snomedct/20824003|http://identifiers.org/mesh/D002764|NCIT:C34465	gard_rare
GO:0060491	biolink:NamedThing	regulation of cell projection assembly	Any process that modulates the rate, frequency, or extent of cell projection assembly.		mondo.json	regulation of cell projection formation	http://purl.obolibrary.org/obo/GO_0060491		
MONDO:0100500	biolink:Disease	Mendelian neurodevelopmental disorder	A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100500		
MONDO:0002150	biolink:Disease	hypothalamic disorder	Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders.	MESH:D007027|ICD9:253.9|DOID:1931|UMLS:C0020655|SCTID:399100005	mondo.json	disease or disorder of hypothalamus|disorder of hypothalamus|disease of hypothalamus|hypothalamus disease|hypothalamus disease or disorder	http://purl.obolibrary.org/obo/MONDO_0002150	DOID:1931|UMLS:C0020655|http://identifiers.org/snomedct/399100005|http://identifiers.org/mesh/D007027	
MONDO:0100502	biolink:Disease	NTHL1-deficiency tumor predisposition syndrome	Biallelic constitutional/germline loss-of-function NTHL1 variants confer predisposition to tumor formation demonstrating ‘COSMIC Signature 30’ mutation profile. Tumors have been reported at multiple primary sites; in particular adenomatous polyposis of colon (~10-50 polyps), colorectal cancer, and breast cancer.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100502		
MONDO:0100503	biolink:Disease	DPH5-related diphthamide-deficiency syndrome	A neurodevelopmental disorder in which the cause of the disease is a mutation in the DPH5 gene, which is characterized by craniofacial dysmorphology, profound neurodevelopmental delay, multisystem abnormalities, and miscarriages.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100503		
MONDO:0002151	biolink:Disease	obsolete dysostosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002151		
MONDO:0014149	biolink:Disease	fetal akinesia-cerebral and retinal hemorrhage syndrome	Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.	OMIM:615368|UMLS:C3809272|SCTID:763346009|Orphanet:363409	mondo.json	myopathy, centronuclear, lethal, autosomal recessive|lethal congenital contracture syndrome 5|LCCS5|lethal congenital contracture syndrome type 5	http://purl.obolibrary.org/obo/MONDO_0014149	UMLS:C3809272|https://omim.org/entry/615368|http://identifiers.org/snomedct/763346009|Orphanet:363409	ordo_disease
MONDO:0014148	biolink:Disease	estrogen resistance syndrome	Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.	Orphanet:785|OMIM:615363|EFO:0009042|UMLS:C3809250|SCTID:724555000	mondo.json	estrogen resistance|estrogen insensitivity|ESTRR	http://purl.obolibrary.org/obo/MONDO_0014148	Orphanet:785|UMLS:C3809250|https://omim.org/entry/615363|http://identifiers.org/snomedct/724555000	ordo_disease
MONDO:0014147	biolink:Disease	neuronal ceroid lipofuscinosis 13	Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene.	UMLS:C3715049|Orphanet:352709|OMIM:615362|DOID:0110727	mondo.json	ceroid lipofuscinosis, neuronal, 13 (Kufs type)|neuronal ceroid lipofuscinosis 13 Kufs type|CLN13 disease|CTSF neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis caused by mutation in CTSF|CLN13|ceroid lipofuscinosis, neuronal, type 13|ceroid lipofuscinosis, neuronal, 13|ceroid lipofuscinosis, neuronal, 13, Kufs type|neuronal ceroid lipofuscinosis type 13	http://purl.obolibrary.org/obo/MONDO_0014147	https://omim.org/entry/615362|DOID:0110727|UMLS:C3715049|Orphanet:352709	ordo_etiological_subtype
MONDO:0014146	biolink:Disease	autosomal dominant hypocalcemia 2	An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.	DOID:0090108|UMLS:C3809243|OMIM:615361	mondo.json	hypocalcemia, autosomal dominant 2|hypocalcemia, autosomal dominant type 2|autosomal dominant hypocalcemia type 2|HYPOC2	http://purl.obolibrary.org/obo/MONDO_0014146	DOID:0090108|UMLS:C3809243|https://omim.org/entry/615361	
HGNC:18858	biolink:NamedThing	PIGM			mondo.json		http://identifiers.org/hgnc/18858		
MONDO:0014141	biolink:Disease	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14		Orphanet:370959|Orphanet:370968|OMIM:615351|UMLS:C3809221	mondo.json	MDDGB14|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14|congenital muscular dystrophy-GMPPB related|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 14|muscular dystrophy, congenital, GMPPB-related	http://purl.obolibrary.org/obo/MONDO_0014141	UMLS:C3809221|https://omim.org/entry/615351	
MONDO:0014140	biolink:Disease	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14		UMLS:C3809216|DOID:0111233|OMIM:615350	mondo.json	muscle-eye-brain-GMPPB related|Walker-Warburg syndrome or muscle-eye-brain disease, GMPPB-related|MDDGA14|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14	http://purl.obolibrary.org/obo/MONDO_0014140	https://omim.org/entry/615350|UMLS:C3809216|DOID:0111233	
MONDO:0014145	biolink:Disease	Leber congenital amaurosis 17	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene.	DOID:0110217|ICD10CM:H35.5|UMLS:C3715164|OMIM:615360	mondo.json	Leber congenital amaurosis type 17|GDF6 Leber congenital amaurosis|LCA17|Leber congenital amaurosis 17|Leber congenital amaurosis caused by mutation in GDF6	http://purl.obolibrary.org/obo/MONDO_0014145	DOID:0110217|https://omim.org/entry/615360|UMLS:C3715164	
MONDO:0014144	biolink:Disease	autosomal recessive limb-girdle muscular dystrophy type R18	A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.	GARD:0012543|OMIM:615356|UMLS:C3809236|DOID:0110287|Orphanet:369840	mondo.json	autosomal recessive limb-girdle muscular dystrophy type 2S|muscular dystrophy, limb-girdle, autosomal recessive 18|muscular dystrophy, limb-girdle, type 2S|limb-girdle muscular dystrophy type 2S|LGMD2S|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11|TRAPPC11 autosomal recessive limb-girdle muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0014144	DOID:0110287|https://omim.org/entry/615356|Orphanet:369840	ordo_disease
MONDO:0014143	biolink:Disease	Noonan syndrome 8	Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene.	UMLS:C3809233|DOID:0060586|OMIM:615355	mondo.json	Noonan syndrome type 8|Noonan syndrome caused by mutation in RIT1|Noonan syndrome 8|NS8|RIT1 Noonan syndrome	http://purl.obolibrary.org/obo/MONDO_0014143	https://omim.org/entry/615355|UMLS:C3809233|DOID:0060586	
MONDO:0014142	biolink:Disease	autosomal recessive limb-girdle muscular dystrophy type 2T	Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.	OMIM:615352|DOID:0110294|Orphanet:363623|UMLS:C3714932|GARD:0012544	mondo.json	muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related|muscular dystrophy, limb-girdle, type 2T|muscular dystrophy-dystroglycanopathy (limb-girdle) type C14|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14|LGMD2T|autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPB|muscular dystrophy limb-girdle type 2T|GMPPB autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy type 2T|muscular dystrophy-dystroglycanopathy, limb-girdle, GMPPB-related|LGMD-GMPPB related|MDDGC14	http://purl.obolibrary.org/obo/MONDO_0014142	DOID:0110294|https://omim.org/entry/615352|Orphanet:363623|UMLS:C3714932	ordo_disease
MONDO:0002167	biolink:Disease	rectum malignant melanoma	An aggressive malignant melanocytic neoplasm that arises from the rectum.	DOID:1992|NCIT:C4640|SCTID:276822007|UMLS:C0349539	mondo.json	rectum melanoma (disease)|rectal malignant melanoma|rectal melanoma|melanoma (disease) of rectum|rectum melanoma|malignant melanoma of rectum|malignant melanoma of the rectum|melanoma of the rectum|melanoma of rectum	http://purl.obolibrary.org/obo/MONDO_0002167	UMLS:C0349539|DOID:1992|NCIT:C4640|http://identifiers.org/snomedct/276822007	
MONDO:0002168	biolink:Disease	rectum sarcoma	A malignant soft tissue neoplasm that arises from the rectum. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma.	NCIT:C5548|UMLS:C1335688|DOID:1995	mondo.json	sarcoma of the rectum|rectal sarcoma|sarcoma of rectum|rectum sarcoma	http://purl.obolibrary.org/obo/MONDO_0002168	NCIT:C5548|DOID:1995|UMLS:C1335688	
MONDO:0002169	biolink:Disease	rectum adenocarcinoma	An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.	EFO:0005631|NCIT:C9383|UMLS:C0149978|DOID:1996|SCTID:254582000|ONCOTREE:READ	mondo.json	read|rectal adenocarcinoma|adenocarcinoma of rectum|adenocarcinoma - rectum|rectum adenocarcinoma|adenocarcinoma of the rectum	http://purl.obolibrary.org/obo/MONDO_0002169	http://identifiers.org/snomedct/254582000|DOID:1996|UMLS:C0149978|NCIT:C9383	
MONDO:0002163	biolink:Disease	thymus lipoma	A well-circumscribed tumor of the thymus composed of islands of normal thymic parenchyma and mature adipose tissue. It is not clear if thymolipoma is a neoplastic or non-neoplastic lesion.	UMLS:C1336744|NCIT:C6452|DOID:1975	mondo.json	Thymolipoma|Thymolipomatous hamartoma|lipoma of thymus|thymus lipoma	http://purl.obolibrary.org/obo/MONDO_0002163	NCIT:C6452|UMLS:C1336744|DOID:1975	
NCIT:R81	biolink:NamedThing	Anatomic_Structure_Has_Location			mondo.json		http://purl.obolibrary.org/obo/NCIT_R81		
MONDO:0002164	biolink:Disease	focal chorioretinitis		ICD9:363.0|DOID:1979|ICD9:363.00|UMLS:C0154870|SCTID:15847003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002164	DOID:1979|UMLS:C0154870|http://identifiers.org/snomedct/15847003	
NCIT:R82	biolink:NamedThing	Anatomic_Structure_Is_Physical_Part_Of			mondo.json		http://purl.obolibrary.org/obo/NCIT_R82		
MONDO:0002165	biolink:Disease	rectal neoplasm	A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.	MESH:D012004|SCTID:126847008|NCIT:C3350|DOID:1984|UMLS:C0034885	mondo.json	rectal tumor|rectum tumor|tumor of rectum|neoplasm of the rectum|rectal neoplasm|rectum neoplasm|rectum neoplasm (disease)|neoplasm of rectum|tumor of the rectum	http://purl.obolibrary.org/obo/MONDO_0002165	UMLS:C0034885|DOID:1984|http://identifiers.org/snomedct/126847008|NCIT:C3350|http://identifiers.org/mesh/D012004	
MONDO:0100510	biolink:Disease	spondyloepimetaphyseal dysplasia	An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.	SCTID:254062008|DOID:0080027	mondo.json	spondylo-epi-(meta)-physeal dysplasia|SEMD	http://purl.obolibrary.org/obo/MONDO_0100510	http://identifiers.org/snomedct/254062008|DOID:0080027	
MONDO:0002166	biolink:Disease	rectum lymphoma	An extranodal lymphoma that arises from the rectum. The majority are B-cell non-Hodgkin lymphomas.	NCIT:C5553|DOID:1988|UMLS:C1335685	mondo.json	lymphoma of the rectum|primary rectal lymphoma|rectal lymphoma|rectum lymphoma|lymphoma of rectum	http://purl.obolibrary.org/obo/MONDO_0002166	NCIT:C5553|DOID:1988|UMLS:C1335685	
MONDO:0002160	biolink:Disease	obsolete cerebral palsy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002160		
MONDO:0002161	biolink:Disease	obsolete fallopian tube carcinosarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002161		
MONDO:0002162	biolink:Disease	fallopian tube adenosarcoma	An extremely rare malignant neoplasm that arises from the fallopian tube and is characterized by the presence of a benign epithelial component and a sarcomatous component.	NCIT:C40125|UMLS:C1517121|DOID:1973	mondo.json	fallopian tube Mullerian adenosarcoma|adenosarcoma of fallopian tube|fallopian tube adenosarcoma|fallopian tube Müllerian adenosarcoma|fallopian tube mullerian adenosarcoma	http://purl.obolibrary.org/obo/MONDO_0002162	UMLS:C1517121|DOID:1973|NCIT:C40125	
MONDO:0100514	biolink:Disease	familial ovarian carcinoma	Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma.	DOID:6901|UMLS:C1333992|NCIT:C36102	mondo.json	hereditary ovarian carcinoma|hereditary ovarian cancer|familiar ovarian carcinoma|familial ovarian carcinoma	http://purl.obolibrary.org/obo/MONDO_0100514	UMLS:C1333992|DOID:6901|NCIT:C36102	
GO:0060485	biolink:NamedThing	mesenchyme development	The process whose specific outcome is the progression of a mesenchymal tissue over time, from its formation to the mature structure. A mesenchymal tissue is made up of loosely packed stellate cells.		mondo.json	mesenchymal development	http://purl.obolibrary.org/obo/GO_0060485		
MONDO:0014138	biolink:Disease	nemaline myopathy 8	An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles.	OMIM:615348|NCIT:C129871|DOID:0110930|UMLS:C3809209	mondo.json	nemaline myopathy 8|nemaline myopathy 8, autosomal recessive|KLHL40 nemaline myopathy|nemaline myopathy type 8|nemaline myopathy caused by mutation in KLHL40|NEM8	http://purl.obolibrary.org/obo/MONDO_0014138	NCIT:C129871|UMLS:C3809209|https://omim.org/entry/615348|DOID:0110930	
MONDO:0100504	biolink:Disease	fungal infection of the toenail	A fungal infectious disease that involves the toenail.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100504		
MONDO:0014137	biolink:Disease	precocious puberty, central, 2	Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene.	UMLS:C3809199|OMIM:615346	mondo.json	precocious puberty, central, 2|precocious puberty, central, type 2|CPPB2|MKRN3 central precocious puberty|central precocious puberty caused by mutation in MKRN3	http://purl.obolibrary.org/obo/MONDO_0014137	https://omim.org/entry/615346|UMLS:C3809199	
MONDO:0100505	biolink:Disease	food dermatitis	Dermatitis caused by an allergic reaction to ingested food.	NCIT:C34534	mondo.json	dermatitis due to food taken internally	http://purl.obolibrary.org/obo/MONDO_0100505	NCIT:C34534	
MONDO:0014136	biolink:Disease	pulmonary hypertension, primary, 4	Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene.	UMLS:C3809198|OMIM:615344	mondo.json	pulmonary hypertension, primary, type 4|pulmonary hypertension, primary, 4|KCNK3 primary pulmonary hypertension|PPH4|primary pulmonary hypertension caused by mutation in KCNK3	http://purl.obolibrary.org/obo/MONDO_0014136	UMLS:C3809198|https://omim.org/entry/615344	
MONDO:0100506	biolink:Disease	Cockayne spectrum with or without cerebrooculofacioskeletal syndrome	An autosomal recessive, multisystem condition caused by pathogenic variants of the ERCC6 gene, encoding the DNA excision repair protein, ERCC-6. Cockayne spectrum with or without cerebrooculofacioskeletal syndrome is characterized by growth failure at birth, with little or no postnatal neurologic development in addition to congenital cataracts or other structural anomalies of the eye, early postnatal contractures of the spine (kyphosis, scoliosis) and joints, and death usually occurring by age five years. This term lumps Cockayne syndrome type 2/B (CSB), cerebrooculofacioskeletal syndrome 1 (COFS syndrome), and De Sanctis-Cacchione syndrome into a spectrum of disease.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100506		
MONDO:0014135	biolink:Disease	pulmonary hypertension, primary, 3	Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene.	UMLS:C3809192|OMIM:615343	mondo.json	pulmonary hypertension, primary, type 3|pulmonary hypertension, primary, 3|primary pulmonary hypertension caused by mutation in CAV1|PPH3|CAV1 primary pulmonary hypertension	http://purl.obolibrary.org/obo/MONDO_0014135	https://omim.org/entry/615343|UMLS:C3809192	
MONDO:0016797	biolink:Disease	multiple mitochondrial DNA deletion syndrome	A mitochondrial oxidative phosphorylation disorder in which mitochondrial DNA (mtDNA) level is lower than normal.	Orphanet:254807|UMLS:CN202053	mondo.json	multiple mtDNA deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016797	Orphanet:254807|UMLS:CN202053	ordo_group_of_disorders|disease_grouping
MONDO:0016798	biolink:Disease	ataxia neuropathy spectrum		Orphanet:254818|UMLS:C3683791|MESH:C579922	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016798	http://identifiers.org/mesh/C579922|Orphanet:254818|UMLS:C3683791	ordo_group_of_disorders|disease_grouping
MONDO:0100509	biolink:Disease	IFT140-related recessive ciliopathy	Any ciliopathy in which the cause of the disease is biallelic variants in the IFT140 gene.		mondo.json	IFT140-related recessive ciliopathy|short-rib thoracic dysplasia 9 with or without polydactyly|retinitis pigmentosa 80	http://purl.obolibrary.org/obo/MONDO_0100509		
HGNC:16205	biolink:NamedThing	MGME1			mondo.json		http://identifiers.org/hgnc/16205		
MONDO:0016799	biolink:Disease	obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism		UMLS:CN202054|Orphanet:254822	mondo.json	OXPHOS disease with no known mechanism	http://purl.obolibrary.org/obo/MONDO_0016799	Orphanet:254822|UMLS:CN202054	ordo_group_of_disorders
MONDO:0014139	biolink:Disease	Ehlers-Danlos syndrome, spondylodysplastic type, 2	Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene.	OMIM:615349|UMLS:C3809210|Orphanet:536467	mondo.json	EDSP2|Ehlers-Danlos syndrome progeroid type caused by mutation in B3GALT6|EDSSPD2|spEDS-B3GALT6|Ehlers-Danlos syndrome, spondylodysplastic type, 2|B3GALT6-related spondylodysplastic EDS|Beta3GalT6-deficient EDS|Ehlers-Danlos syndrome, progeroid type, 2, formerly|B3GALT6-related spEDS|Ehlers-Danlos syndrome progeroid type 2|Ehlers-Danlos syndrome, progeroid type, 2|B3GALT6 Ehlers-Danlos syndrome progeroid type	http://purl.obolibrary.org/obo/MONDO_0014139	https://omim.org/entry/615349|UMLS:C3809210|Orphanet:536467	ordo_subtype_of_a_disorder
MONDO:0014130	biolink:Disease	Dowling-Degos disease 2	Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene.	UMLS:C3809147|OMIM:615327	mondo.json	Dowling-Degos disease caused by mutation in POFUT1|DDD2|Dowling-Degos disease 2|POFUT1 Dowling-Degos disease|Dowling-Degos disease type 2	http://purl.obolibrary.org/obo/MONDO_0014130	UMLS:C3809147|https://omim.org/entry/615327	
MONDO:0016793	biolink:Disease	obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA		UMLS:CN202050|Orphanet:254776	mondo.json	mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA|OXPHOS disease due to a point mutation of mitochondrial DNA|OXPHOS disease due to a point mutation of mtDNA	http://purl.obolibrary.org/obo/MONDO_0016793	Orphanet:254776|UMLS:CN202050	ordo_group_of_disorders
HGNC:18865	biolink:NamedThing	KCNT1			mondo.json		http://identifiers.org/hgnc/18865		
MONDO:0016794	biolink:Disease	maternally-inherited mitochondrial myopathy		Orphanet:254788	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016794	Orphanet:254788	ordo_group_of_disorders|disease_grouping
MONDO:0016795	biolink:Disease	obsolete mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA		Orphanet:254793|UMLS:CN202051	mondo.json	mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA|OXPHOS disease due to a duplication of mitochondrial DNA|OXPHOS disease due to a duplication of mtDNA	http://purl.obolibrary.org/obo/MONDO_0016795	Orphanet:254793|UMLS:CN202051	ordo_group_of_disorders
MONDO:0016796	biolink:Disease	mitochondrial DNA depletion syndrome, encephalomyopathic form	Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.	UMLS:CN230130|UMLS:CN202052|Orphanet:254803	mondo.json	mtDNA depletion syndrome, encephalomyopathic form	http://purl.obolibrary.org/obo/MONDO_0016796	Orphanet:254803|UMLS:CN202052|UMLS:CN230130	ordo_group_of_disorders|disease_grouping
MONDO:0014134	biolink:Disease	pulmonary hypertension, primary, 2	Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene.	OMIM:615342|UMLS:C3888002	mondo.json	pulmonary hypertension, primary, type 2|SMAD9 primary pulmonary hypertension|pulmonary hypertension, primary, 2|PPH2|primary pulmonary hypertension caused by mutation in SMAD9	http://purl.obolibrary.org/obo/MONDO_0014134	https://omim.org/entry/615342|UMLS:C3888002	
MONDO:0014133	biolink:Disease	developmental and epileptic encephalopathy, 16		OMIM:615338|UMLS:C3809173|DOID:0080449|Orphanet:352596	mondo.json	epileptic encephalopathy, early infantile, 16|epileptic encephalopathy, early infantile, type 16|DEE16|EIEE16|developmental and epileptic encephalopathy 16	http://purl.obolibrary.org/obo/MONDO_0014133	https://omim.org/entry/615338|UMLS:C3809173|DOID:0080449	
MONDO:0016790	biolink:Disease	tricarboxylic acid cycle disorder	An inherited metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle.	UMLS:CN227000|Orphanet:254749	mondo.json	TCA cycle disorder|inborn tricarboxylic acid cycle disorder|inborn error of tricarboxylic acid cycle|rare inborn error of tricarboxylic acid cycle|Krebs cycle disorder|citric acid cycle disorder	http://purl.obolibrary.org/obo/MONDO_0016790	UMLS:CN227000|Orphanet:254749	ordo_group_of_disorders|disease_grouping
MONDO:0014132	biolink:Disease	multiple mitochondrial dysfunctions syndrome 3	Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene.	OMIM:615330|Orphanet:363424|UMLS:C3809165|DOID:0080135	mondo.json	multiple mitochondrial dysfunctions syndrome 3|IBA57 fatal multiple mitochondrial dysfunctions syndrome|fatal multiple mitochondrial dysfunctions syndrome caused by mutation in IBA57|multiple mitochondrial dysfunctions syndrome type 3|IBA57 deficiency|MMDS3	http://purl.obolibrary.org/obo/MONDO_0014132	UMLS:C3809165|https://omim.org/entry/615330|DOID:0080135|Orphanet:363424	ordo_disease
MONDO:0016791	biolink:Disease	obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies		Orphanet:254758|UMLS:CN202048	mondo.json	OXPHOS disease due to mtDNA anomalies|mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies|OXPHOS disease due to mitochondrial DNA anomalies	http://purl.obolibrary.org/obo/MONDO_0016791	UMLS:CN202048|Orphanet:254758	ordo_group_of_disorders
MONDO:0016792	biolink:Disease	obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA		Orphanet:254767|UMLS:CN202049	mondo.json	OXPHOS disease due to a large-scale single deletion of mitochondrial DNA|OXPHOS disease due to a large-scale single deletion of mtDNA|mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA	http://purl.obolibrary.org/obo/MONDO_0016792	Orphanet:254767|UMLS:CN202049	ordo_group_of_disorders
MONDO:0014131	biolink:Disease	hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome		Orphanet:363523|UMLS:C3809160|OMIM:615328	mondo.json	SHAHEEN syndrome|SHNS	http://purl.obolibrary.org/obo/MONDO_0014131	https://omim.org/entry/615328|UMLS:C3809160|Orphanet:363523	ordo_disease
CHR:9606-chr5q22	biolink:NamedThing	5q22 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr5q22		
MONDO:0026185	biolink:Disease	obsolete genetic respiratory or mediastinal malformation		Orphanet:183554	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026185	Orphanet:183554	
MONDO:0026186	biolink:Disease	obsolete genetic developmental defect of the eye		Orphanet:183557	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026186	Orphanet:183557	
MONDO:0026183	biolink:Disease	obsolete genetic digestive tract malformation		Orphanet:183545	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026183	Orphanet:183545	
CHR:9606-chrXq12-q13.3	biolink:NamedThing	Xq12-q13.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chrXq12-q13.3		
MONDO:0026184	biolink:Disease	obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen		Orphanet:183548	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026184	Orphanet:183548	
MONDO:0026189	biolink:Disease	obsolete genetic branchial arch or oral-acral syndrome		Orphanet:183576	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026189	Orphanet:183576	
MONDO:0026187	biolink:Disease	obsolete genetic malformation syndrome with short stature		Orphanet:183570	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026187	Orphanet:183570	
MONDO:0026188	biolink:Disease	obsolete genetic overgrowth/obesity syndrome		Orphanet:183573	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026188	Orphanet:183573	
MONDO:0100515	biolink:Disease	mirror movements 1 and/or agenesis of the corpus callosum	A familial congenital mirror movement disorder where individuals with heterozygous variants in DCC have congenital mirror movements and/or agenesis of the corpus callosum (not with or without- some individuals do not demonstrate mirror movements and only have corpus callosum defects, even within the same family).		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100515		
MONDO:0100516	biolink:Disease	complex neurodevelopmental disorder with motor features	A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). Additionally, the disorder features at least one phenotype associated with motor function, including but not limited to spasticity, hypo- or hypertonia, dyskinesia, choreo-athetosis, or ataxia.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100516		
MONDO:0026181	biolink:Disease	obsolete genetic renal or urinary tract malformation		Orphanet:183539	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026181	Orphanet:183539	
MONDO:0026182	biolink:Disease	obsolete genetic cranial malformation		Orphanet:183542	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026182	Orphanet:183542	
MONDO:0026180	biolink:Disease	obsolete genetic congenital limb malformation		Orphanet:183536	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026180	Orphanet:183536	
HGNC:18831	biolink:NamedThing	CTHRC1			mondo.json		http://identifiers.org/hgnc/18831		
CHR:9606-chr5q31	biolink:NamedThing	5q31 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr5q31		
GO:0035461	biolink:NamedThing	vitamin transmembrane transport	The process in which a vitamin is transported across a membrane. A vitamin is one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body.		mondo.json	vitamin membrane transport	http://purl.obolibrary.org/obo/GO_0035461		
CHR:9606-chr5q35	biolink:NamedThing	5q35 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr5q35		
MONDO:0014192	biolink:Disease	primary ciliary dyskinesia 22	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene.	UMLS:C3809543|OMIM:615444|DOID:0110597	mondo.json	ciliary dyskinesia, primary, 22|primary ciliary dyskinesia caused by mutation in ZMYND10|ZMYND10 primary ciliary dyskinesia|ciliary dyskinesia, primary, 22, with or without situs inversus|ciliary dyskinesia, primary, type 22|CILD22|primary ciliary dyskinesia type 22|primary ciliary dyskinesia 22 with or without situs inversus	http://purl.obolibrary.org/obo/MONDO_0014192	DOID:0110597|https://omim.org/entry/615444|UMLS:C3809543	
MONDO:0014191	biolink:Disease	catecholaminergic polymorphic ventricular tachycardia 5	Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene.	DOID:0060679|OMIM:615441|ICD10CM:I47.2|UMLS:C3809536	mondo.json	catecholaminergic polymorphic ventricular tachycardia type 5|CVPT5|ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness|catecholaminergic polymorphic ventricular tachycardia 5|CPVT5|TRDN catecholaminergic polymorphic ventricular tachycardia|catecholaminergic polymorphic ventricular tachycardia caused by mutation in TRDN|cardiac arrhythmia syndrome, with or without skeletal muscle weakness	http://purl.obolibrary.org/obo/MONDO_0014191	https://omim.org/entry/615441|UMLS:C3809536|DOID:0060679	
MONDO:0014190	biolink:Disease	combined oxidative phosphorylation defect type 17	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene.	Orphanet:369913|UMLS:C3809526|OMIM:615440|DOID:0111496	mondo.json	COXPD17|ELAC2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 17|combined oxidative phosphorylation deficiency caused by mutation in ELAC2|combined oxidative phosphorylation deficiency 17	http://purl.obolibrary.org/obo/MONDO_0014190	DOID:0111496|https://omim.org/entry/615440|UMLS:C3809526|Orphanet:369913	ordo_disease|clingen
MONDO:0041751	biolink:Disease	multibacillary leprosy	A lepromatous form of leprosy that is characterized by numerous infiltrated skin lesions displaying high bacillary loads, impaired peripheral nerves, possible involvement of internal organs, and a Th2-mediated immune response.	MESH:D056006|SCTID:416257001	mondo.json	multibacillary leprosy|lepromatous leprosy	http://purl.obolibrary.org/obo/MONDO_0041751	http://identifiers.org/mesh/D056006|http://identifiers.org/snomedct/416257001	
MONDO:0026173	biolink:Disease	obsolete rare genetic medullar disease		Orphanet:183515	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026173	Orphanet:183515	
MONDO:0041752	biolink:Disease	paucibacillary leprosy	A tuberculoid form of leprosy that is characterized by a small number of hypopigmented, well-bordered, anesthetic skin lesions with a low bacillary load, early peripheral nerve impairment, and a T-helper 1 (Th1)–mediated immune response.	MESH:D056005|SCTID:416483009	mondo.json	paucibacillary leprosy|tuberculoid leprosy	http://purl.obolibrary.org/obo/MONDO_0041752	http://identifiers.org/mesh/D056005|http://identifiers.org/snomedct/416483009	
MONDO:0026170	biolink:Disease	obsolete genetic central nervous system malformation		Orphanet:183506	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026170	Orphanet:183506	
MONDO:0014196	biolink:Disease	Hartsfield-Bixler-Demyer syndrome		UMLS:C1845146|Orphanet:2117|SCTID:766032007|MESH:C564484|OMIM:615465	mondo.json	holoprosencephaly, ectrodactyly, and bilateral cleft Lip/palate|HARTSFIELD syndrome|Hartsfield-Bixler-Demyer syndrome|HRTFDS|holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly-ectrodactyly-cleft lip palate syndrome	http://purl.obolibrary.org/obo/MONDO_0014196	UMLS:C1845146|Orphanet:2117|http://identifiers.org/mesh/C564484|https://omim.org/entry/615465|http://identifiers.org/snomedct/766032007	ordo_malformation_syndrome
MONDO:0014195	biolink:Disease	microcornea-myopic chorioretinal atrophy		Orphanet:369970|UMLS:C3809567|OMIM:615458	mondo.json	microcornea-myopic chorioretinal atrophy|MMCAT syndrome|MMCAT|microcornea-myopic chorioretinal atrophy-telecanthus syndrome|microcornea, myopic chorioretinal atrophy, and telecanthus	http://purl.obolibrary.org/obo/MONDO_0014195	https://omim.org/entry/615458|Orphanet:369970|UMLS:C3809567	ordo_disease
MONDO:0014194	biolink:Disease	mitochondrial complex III deficiency nuclear type 6	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene.	UMLS:C3809553|DOID:0080115|OMIM:615453	mondo.json	MC3DN6|CYC1 mitochondrial complex III deficiency|mitochondrial complex III deficiency, nuclear type 6|mitochondrial complex III deficiency caused by mutation in CYC1|mitochondrial Complex 3 deficiency, nuclear type 6	http://purl.obolibrary.org/obo/MONDO_0014194	DOID:0080115|https://omim.org/entry/615453|UMLS:C3809553	
MONDO:0014193	biolink:Disease	primary ciliary dyskinesia 23	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene.	DOID:0110609|OMIM:615451|UMLS:C3809548	mondo.json	CILD23|ciliary dyskinesia, primary, 23, with or without situs inversus|primary ciliary dyskinesia type 23|ARMC4 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 23|primary ciliary dyskinesia 23 with or without situs inversus|ciliary dyskinesia, primary, 23|primary ciliary dyskinesia caused by mutation in ARMC4	http://purl.obolibrary.org/obo/MONDO_0014193	https://omim.org/entry/615451|UMLS:C3809548|DOID:0110609	
MONDO:0014199	biolink:Disease	developmental and epileptic encephalopathy, 17	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene.	OMIM:615473|UMLS:C3809606|GARD:0013378|DOID:0080450	mondo.json	epileptic encephalopathy, early infantile, 17|epileptic encephalopathy, early infantile, type 17|early infantile epileptic encephalopathy caused by mutation in GNAO1|DEE17|early infantile epileptic encephalopathy-17|GNAO1 encephalopathy|GNAO1 early infantile epileptic encephalopathy|EIEE17|developmental and epileptic encephalopathy 17	http://purl.obolibrary.org/obo/MONDO_0014199	DOID:0080450|https://omim.org/entry/615473|UMLS:C3809606	
MONDO:0014198	biolink:Disease	mitochondrial DNA depletion syndrome 13	Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene.	SCTID:765403009|OMIM:615471|UMLS:C3809592|Orphanet:369897|DOID:0080131|GARD:0013298	mondo.json	mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies|mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)|FBXL4 deficiency|FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome caused by mutation in FBXL4|MTDPS13|BXL4-related early-onset mitochondrial encephalopathy|mitochondrial DNA depletion syndrome type 13|mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies|FBXL4 mitochondrial DNA depletion syndrome|encephalomyopathic mitochondrial DNA depletion syndrome-13	http://purl.obolibrary.org/obo/MONDO_0014198	http://identifiers.org/snomedct/765403009|DOID:0080131|Orphanet:369897|https://omim.org/entry/615471|UMLS:C3809592	ordo_disease
MONDO:0014197	biolink:Disease	combined immunodeficiency due to MALT1 deficiency	Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.	Orphanet:397964|OMIM:615468|UMLS:C3809583	mondo.json	IMD12|immunodeficiency type 12|immunodeficiency 12|combined immunodeficiency due to MALT1 deficiency	http://purl.obolibrary.org/obo/MONDO_0014197	https://omim.org/entry/615468|UMLS:C3809583|Orphanet:397964	ordo_disease
MONDO:0014181	biolink:Disease	amyotrophic lateral sclerosis type 20	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene.	OMIM:615426|UMLS:C3715156|DOID:0060211	mondo.json	amyotrophic lateral sclerosis caused by mutation in HNRNPA1|amyotrophic lateral sclerosis type 20|amyotrophic lateral sclerosis 20|ALS20|HNRNPA1 amyotrophic lateral sclerosis	http://purl.obolibrary.org/obo/MONDO_0014181	https://omim.org/entry/615426|DOID:0060211|UMLS:C3715156	
MONDO:0014180	biolink:Disease	epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency		OMIM:615425|Orphanet:412181|UMLS:C3809470	mondo.json	epidermolysis bullosa simplex, autosomal recessive 2|epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency|EBS-AR BP230|EBSB2|epidermolysis bullosa simplex, autosomal recessive type 2|DST-related epidermolysis bullosa simplex|epidermolysis bullosa simplex due to BP230 deficiency	http://purl.obolibrary.org/obo/MONDO_0014180	Orphanet:412181|UMLS:C3809470|https://omim.org/entry/615425	ordo_disease
MONDO:0002196	biolink:Disease	perinatal intestinal perforation		DOID:2073|ICD10CM:P78.0|UMLS:C0159006|ICD9:777.6|SCTID:65390006	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002196	UMLS:C0159006|http://identifiers.org/snomedct/65390006|DOID:2073|http://purl.bioontology.org/ontology/ICD10CM/P78.0	
MONDO:0002197	biolink:Disease	minor vestibular glands adenoma	A rare, benign neoplasm that arises from the vulva It is characterized by the presence of clusters of small glands lined by mucinous epithelial cells. Bartholin duct structures are not present.	UMLS:C1510791|NCIT:C40301|DOID:2075	mondo.json	minor vestibular gland adenoma|adenoma of minor vestibular glands	http://purl.obolibrary.org/obo/MONDO_0002197	NCIT:C40301|DOID:2075|UMLS:C1510791	
MONDO:0002198	biolink:Disease	vulvar glandular neoplasm	A benign or malignant neoplasm that arises from the vulva and is composed of glandular epithelial cells. Representative examples include adenoma of the minor vestibular glands, Bartholin gland adenoma, and Bartholin gland adenocarcinoma.	UMLS:C1520082|NCIT:C40292|DOID:2076	mondo.json	mammalian vulva glandular cell neoplasm|vulvar glandular tumor|vulvar glandular neoplasm	http://purl.obolibrary.org/obo/MONDO_0002198	UMLS:C1520082|NCIT:C40292|DOID:2076	
MONDO:0002199	biolink:Disease	benign mixed tumor of the vulva	A benign neoplasm that arises from the vulva and is characterized by the presence of epithelial cells forming nests and tubules in a fibrotic stroma. It may recur locally and complete excision is recommended.	UMLS:C1511091|DOID:2078|NCIT:C40302	mondo.json	benign mixed tumor of the vulva|chondroid syringoma of the vulva	http://purl.obolibrary.org/obo/MONDO_0002199	NCIT:C40302|UMLS:C1511091|DOID:2078	
MONDO:0002192	biolink:Disease	vulvar angiokeratoma	An uncommon benign lesion in the vulva. It manifests with multiple papular lesions which are purple in color. They are usually asymptomatic. Histologically, there is hyperkeratosis, papillomatosis, and dilated blood vessels in the papillary dermis.	SCTID:402841001|UMLS:C1274281|NCIT:C8596|DOID:2066	mondo.json	mammalian vulva angiokeratoma of Fordyce|angiokeratoma of Fordyce of mammalian vulva|angiokeratoma of mammalian vulva|mammalian vulva angiokeratoma	http://purl.obolibrary.org/obo/MONDO_0002192	NCIT:C8596|DOID:2066|http://identifiers.org/snomedct/402841001|UMLS:C1274281	
MONDO:0026167	biolink:Disease	obsolete genetic neuromuscular disease		Orphanet:183497	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026167	Orphanet:183497	
MONDO:0002193	biolink:Disease	Bartholin gland benign neoplasm	A benign neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma.	SCTID:189130001|DOID:2068|NCIT:C6434	mondo.json	major vestibular gland benign neoplasm|Bartholin gland neoplasm|tumor of Bartholin's gland	http://purl.obolibrary.org/obo/MONDO_0002193	DOID:2068|http://identifiers.org/snomedct/189130001	
MONDO:0002194	biolink:Disease	vestibular papilloma	A benign papillary neoplasm that arises from the vulva and is characterized by the presence of a delicate fibrovascular stalk lined by squamous epithelium. There is no evidence of epithelial atypia.	UMLS:C1336982|DOID:2071|NCIT:C6376	mondo.json	mammalian vulva squamous papilloma|vestibular papilloma|vulvar squamous papilloma	http://purl.obolibrary.org/obo/MONDO_0002194	UMLS:C1336982|DOID:2071|NCIT:C6376	
MONDO:0002195	biolink:Disease	vulvar squamous neoplasm	A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the vulva. Representative examples include vestibular papilloma, intraepithelial neoplasia, and squamous cell carcinoma.	DOID:2072|NCIT:C40283|UMLS:C1520097	mondo.json	mammalian vulva squamous cell neoplasm|vulvar squamous neoplasm|vulvar squamous tumor	http://purl.obolibrary.org/obo/MONDO_0002195	UMLS:C1520097|NCIT:C40283|DOID:2072	
MONDO:0026166	biolink:Disease	obsolete genetic immune deficiency with skin involvement		Orphanet:183494	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026166	Orphanet:183494	
GO:0035441	biolink:NamedThing	cell migration involved in vasculogenesis	The orderly movement of a cell from one site to another that will contribute to the differentiation of an endothelial cell that will form de novo blood vessels and tubes.		mondo.json		http://purl.obolibrary.org/obo/GO_0035441		
MONDO:0002190	biolink:Disease	vulvar syringoma	A benign neoplasm that arises from eccrine ducts in the vulva and is characterized by the presence of tubules and cysts which are lined by epithelial cells in the densely fibrotic dermis.	NCIT:C40311|DOID:2064|UMLS:C1520099	mondo.json	mammalian vulva syringoma|vulvar syringoma|syringoma of mammalian vulva	http://purl.obolibrary.org/obo/MONDO_0002190	NCIT:C40311|DOID:2064|UMLS:C1520099	
MONDO:0002191	biolink:Disease	syringoma	A benign sweat gland neoplasm usually affecting the lower eyelids and upper cheeks. The lesions are papular and are usually numerous. Morphologically, there are nests, cords, and tubules of epithelial cells present, surrounded by a dense stroma in the reticular dermis.	GARD:0010547|ICDO:8407/0|NCIT:C3761|DOID:2065|UMLS:C0206673|MESH:D018252|SCTID:302828001	mondo.json	eccrine syringoma|syringoma	http://purl.obolibrary.org/obo/MONDO_0002191	NCIT:C3761|UMLS:C0206673|DOID:2065|http://identifiers.org/mesh/D018252|http://identifiers.org/snomedct/302828001	
HGNC:18817	biolink:NamedThing	HPS6			mondo.json		http://identifiers.org/hgnc/18817		
MONDO:0026160	biolink:Disease	obsolete genetic dermis disorder		Orphanet:183472	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026160	Orphanet:183472	
MONDO:0041755	biolink:Disease	twin reversal arterial perfusion syndrome		SCTID:417006004|UMLS:C1562817	mondo.json	twin reversal arterial perfusion syndrome	http://purl.obolibrary.org/obo/MONDO_0041755	UMLS:C1562817|http://identifiers.org/snomedct/417006004	
MONDO:0014185	biolink:Disease	chromosome 3q13.31 deletion syndrome	3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.	DOID:0060418|OMIM:615433|SCTID:726705007|MESH:C536808|UMLS:CN036884|UMLS:C3809490|Orphanet:1621	mondo.json	chromosome 3q13.31 deletion syndrome|monosomy 3q13|Del(3)(q13)|3q13 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0014185	UMLS:CN036884|http://identifiers.org/snomedct/726705007|Orphanet:1621|http://identifiers.org/mesh/C536808|https://omim.org/entry/615433|UMLS:C3809490|DOID:0060418	ordo_malformation_syndrome
HGNC:18810	biolink:NamedThing	CATSPER2			mondo.json		http://identifiers.org/hgnc/18810		
MONDO:0014184	biolink:Disease	specific language impairment 5	A communication disorder that involves the processing of linguistic information.	OMIM:615432|UMLS:C3809483	mondo.json	specific language impairment type 5|specific language impairment 5|SLI5	http://purl.obolibrary.org/obo/MONDO_0014184	UMLS:C3809483|https://omim.org/entry/615432	
MONDO:0014183	biolink:Disease	myopia 23, autosomal recessive		UMLS:C3809482|OMIM:615431	mondo.json	MYP23|myopia 23, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0014183	https://omim.org/entry/615431|UMLS:C3809482	
MONDO:0014182	biolink:Disease	autosomal recessive nonsyndromic hearing loss 88	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene.	OMIM:615429|UMLS:C2829267|DOID:0110533	mondo.json	ELMOD3 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 88|autosomal recessive nonsyndromic deafness 88|DFNB88|autosomal recessive nonsyndromic deafness caused by mutation in ELMOD3|autosomal recessive deafness 88|autosomal recessive nonsyndromic deafness type 88|deafness, autosomal recessive type 88	http://purl.obolibrary.org/obo/MONDO_0014182	UMLS:C2829267|DOID:0110533|https://omim.org/entry/615429	
MONDO:0014189	biolink:Disease	age related macular degeneration 13	Any age-related macular degeneration in which the cause of the disease is a mutation in the CFI gene.	DOID:0110025|OMIM:615439|UMLS:C3809523	mondo.json	age-related macular degeneration caused by mutation in CFI|macular degeneration, age-related, 13, susceptibility to|age related macular degeneration type 13|ARMD13|macular degeneration, age-related, 13|CFI age-related macular degeneration|macular Degeneration, age-related, type 13	http://purl.obolibrary.org/obo/MONDO_0014189	DOID:0110025|https://omim.org/entry/615439|UMLS:C3809523	
MONDO:0014188	biolink:Disease	obsolete MONDO:0014188			mondo.json		http://purl.obolibrary.org/obo/MONDO_0014188		
MONDO:0014187	biolink:Disease	aortic aneurysm, familial thoracic 8	Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene.	UMLS:C3809513|OMIM:615436	mondo.json	familial thoracic aortic aneurysm and aortic dissection caused by mutation in PRKG1|aortic aneurysm, familial thoracic type 8|aortic aneurysm, familial thoracic 8|PRKG1 familial thoracic aortic aneurysm and aortic dissection|AAT8	http://purl.obolibrary.org/obo/MONDO_0014187	https://omim.org/entry/615436|UMLS:C3809513	
MONDO:0014186	biolink:Disease	retinitis pigmentosa with or without situs inversus	Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene.	UMLS:C3809503|OMIM:615434|DOID:0110419|ICD10CM:H35.5	mondo.json	retinitis pigmentosa caused by mutation in ARL2BP|ARL2BP retinitis pigmentosa|retinitis pigmentosa with or without situs inversus	http://purl.obolibrary.org/obo/MONDO_0014186	DOID:0110419|https://omim.org/entry/615434	
CHR:9606-chr5q12	biolink:NamedThing	5q12 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr5q12		
MONDO:0014170	biolink:Disease	complex cortical dysplasia with other brain malformations 3	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene.	UMLS:C3809414|OMIM:615411|DOID:0090134	mondo.json	cortical dysplasia, complex, with other brain malformations 3|complex cortical dysplasia with other brain malformations type 3|KIF2A complex cortical dysplasia with other brain malformations|cortical dysplasia, Complex, with Other brain malformations type 3|complex cortical dysplasia with other brain malformations caused by mutation in KIF2A|CDCBM3	http://purl.obolibrary.org/obo/MONDO_0014170	DOID:0090134|UMLS:C3809414|https://omim.org/entry/615411	
CHR:9606-chr5q14	biolink:NamedThing	5q14 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr5q14		
MONDO:0026152	biolink:Disease	obsolete genetic porokeratosis		Orphanet:183444	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026152	Orphanet:183444	
MONDO:0026150	biolink:Disease	obsolete genetic erythrokeratoderma		Orphanet:183438	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026150	Orphanet:183438	
MONDO:0026151	biolink:Disease	obsolete genetic acrokeratoderma		Orphanet:183441	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026151	Orphanet:183441	
MONDO:0026157	biolink:Disease	obsolete genetic pigmentation anomaly of the skin		Orphanet:183463	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026157	Orphanet:183463	
HGNC:18829	biolink:NamedThing	KLHL10			mondo.json		http://identifiers.org/hgnc/18829		
MONDO:0014179	biolink:Disease	inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3	Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene.	DOID:0111386|UMLS:C3809469|OMIM:615424	mondo.json	inclusion body myopathy with early-onset paget disease without frontotemporal dementia 3|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 3|inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA1|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3|IBMPFD3|HNRNPA1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia|multisystem Proteinopathy 3	http://purl.obolibrary.org/obo/MONDO_0014179	DOID:0111386|UMLS:C3809469|https://omim.org/entry/615424	
HGNC:18828	biolink:NamedThing	NDUFAF1			mondo.json		http://identifiers.org/hgnc/18828		
MONDO:0014174	biolink:Disease	renal-hepatic-pancreatic dysplasia 2	Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene.	UMLS:C3809434|OMIM:615415	mondo.json	NEK8 renal-hepatic-pancreatic dysplasia|renal-hepatic-pancreatic dysplasia 2|RHPD2|renal-hepatic-pancreatic dysplasia caused by mutation in NEK8|renal-hepatic-pancreatic dysplasia type 2	http://purl.obolibrary.org/obo/MONDO_0014174	UMLS:C3809434|https://omim.org/entry/615415	
HGNC:18821	biolink:NamedThing	LIPI			mondo.json		http://identifiers.org/hgnc/18821		
MONDO:0014173	biolink:Disease	microcephaly 11, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene.	UMLS:C3809431|OMIM:615414|DOID:0070287	mondo.json	microcephaly 11, primary, autosomal recessive|MCPH11|PHC1 autosomal recessive primary microcephaly|autosomal recessive primary microcephaly caused by mutation in PHC1	http://purl.obolibrary.org/obo/MONDO_0014173	DOID:0070287|https://omim.org/entry/615414|UMLS:C3809431	
MONDO:0014172	biolink:Disease	spermatogenic failure 12	Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene.	DOID:0070171|UMLS:C3809427|OMIM:615413	mondo.json	azoospermia caused by mutation in NANOS1|spermatogenic failure type 12|SPGF12|NANOS1 azoospermia|spermatogenic failure 12	http://purl.obolibrary.org/obo/MONDO_0014172	DOID:0070171|UMLS:C3809427|https://omim.org/entry/615413	
MONDO:0014171	biolink:Disease	complex cortical dysplasia with other brain malformations 4	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene.	OMIM:615412|DOID:0090138|UMLS:C3809420	mondo.json	cortical dysplasia, complex, with other brain malformations 4|TUBG1 complex cortical dysplasia with other brain malformations|CDCBM4|complex cortical dysplasia with other brain malformations caused by mutation in TUBG1|cortical dysplasia, Complex, with Other brain malformations type 4|complex cortical dysplasia with other brain malformations type 4	http://purl.obolibrary.org/obo/MONDO_0014171	DOID:0090138|https://omim.org/entry/615412|UMLS:C3809420	
MONDO:0014178	biolink:Disease	inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene.	UMLS:C3809468|DOID:0111384|OMIM:615422	mondo.json	inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 2|inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA2B1|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2|HNRNPA2B1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia|multisystem Proteinopathy 2|IBMPFD2	http://purl.obolibrary.org/obo/MONDO_0014178	DOID:0111384|https://omim.org/entry/615422|UMLS:C3809468	
MONDO:0014177	biolink:Disease	myopia 22, autosomal dominant		OMIM:615420|UMLS:C3809464	mondo.json	MYP22|myopia 22, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0014177	UMLS:C3809464|https://omim.org/entry/615420	
MONDO:0014176	biolink:Disease	hypotonia, infantile, with psychomotor retardation and characteristic facies	A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).	Orphanet:371364|OMIMPS:615419|UMLS:CN204877	mondo.json	hypotonia, infantile, with psychomotor retardation and characteristic facies|infantile hypotonia-psychomotor retardation-characteristic facies syndrome|hypotonia-speech impairment-severe cognitive delay syndrome|IHPRF syndrome|IHPRF	http://purl.obolibrary.org/obo/MONDO_0014176	Orphanet:371364|UMLS:CN204877|https://omim.org/phenotypicSeries/PS615419	ordo_disease|prototype_pattern
MONDO:0014175	biolink:Disease	mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy.	UMLS:C4321247|DOID:0080130|NCIT:C129977|DOID:0080335|OMIM:615418	mondo.json	mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive|mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)|mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR|MTDPS12B|mitochondrial DNA depletion syndrome 12|mitochondrial DNA depletion syndrome type 12|mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), AR|MTDPS12	http://purl.obolibrary.org/obo/MONDO_0014175	DOID:0080335|UMLS:C4321247|NCIT:C129977|https://omim.org/entry/615418	
MONDO:0004757	biolink:Disease	chronic ethmoidal sinusitis	Inflammation of the ethmoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.	DOID:9312|ICD9:473.2|SCTID:73237007|ICD10CM:J32.2|NCIT:C34472|UMLS:C0008681	mondo.json	chronic ethmoid sinusitis|chronic ethmoidal sinusitis|ethmoid sinusitis, chronic|ethmoidal sinusitis - chronic|chronic ethmoiditis	http://purl.obolibrary.org/obo/MONDO_0004757	DOID:9312|http://purl.bioontology.org/ontology/ICD10CM/J32.2|http://identifiers.org/snomedct/73237007|NCIT:C34472|UMLS:C0008681	
MONDO:0004756	biolink:Disease	nasal cavity neoplasm	A benign or malignant neoplasm that affects the nasal cavity. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	DOID:9310|SCTID:126670003|NCIT:C4413|UMLS:C0345630	mondo.json	nasal cavity tumor|nasal cavity neoplasm (disease)|tumor of nasal cavity|nasal cavity neoplasm|neoplasm of the nasal cavity|tumor of the nasal cavity|neoplasm of nasal cavity	http://purl.obolibrary.org/obo/MONDO_0004756	DOID:9310|NCIT:C4413|http://identifiers.org/snomedct/126670003|UMLS:C0345630	
NCBITaxon:35793	biolink:OrganismalEntity	Rickettsia sibirica		PMID:17114787|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_35793		
CHEBI:48730	biolink:ChemicalSubstance	aluminosilicate mineral	Silicate minerals that contain aluminium, silicon, and oxygen, together with other ions. They are a major component of clay minerals.		mondo.json	Alumosilikat|aluminosilicates|Alumosilikate|aluminosilicato	http://purl.obolibrary.org/obo/CHEBI_48730		
MONDO:0004759	biolink:Disease	bestiality		DOID:9336|ICD9:302.1|SCTID:81463002	mondo.json	zoophilia	http://purl.obolibrary.org/obo/MONDO_0004759	DOID:9336|http://identifiers.org/snomedct/81463002	
NCBITaxon:35792	biolink:OrganismalEntity	Rickettsia parkeri		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_35792		
MONDO:0004758	biolink:Disease	scotoma	A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of eye diseases (e.g., retinal diseases and glaucoma); optic nerve diseases, and other conditions.	HP:0000575|DOID:9335|ICD9:368.45|ICD9:368.44|ICD9:368.43|ICD9:368.42|MESH:D012607	mondo.json	scotoma|scotoma (disease)|enlarged paracaecal scotoma|generalized visual field contraction or constriction|sector or arcuate visual field defects|blind spot area scotoma|enlarged angioscotoma|enlarged blind spot|scotoma of blind spot area	http://purl.obolibrary.org/obo/MONDO_0004758	DOID:9335|http://identifiers.org/mesh/D012607	
NCBITaxon:35790	biolink:OrganismalEntity	Rickettsia japonica		PMID:1581190|GC_ID:11|PMID:2516664	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_35790		
MONDO:0004753	biolink:Disease	mechanical strabismus		ICD9:378.60|ICD10CM:H50.6|ICD9:378.6|DOID:9306|SCTID:5371001|UMLS:C0152223	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004753	http://identifiers.org/snomedct/5371001|UMLS:C0152223|http://purl.bioontology.org/ontology/ICD10CM/H50.6|DOID:9306	
MONDO:0004752	biolink:Disease	neurofibroma of the heart	A rare neurofibroma that affects the heart.	DOID:9300|NCIT:C5359|UMLS:C1096349	mondo.json	neurofibroma of heart|Cardiac neurofibroma|neurofibroma of the heart|heart neurofibroma	http://purl.obolibrary.org/obo/MONDO_0004752	UMLS:C1096349|NCIT:C5359|DOID:9300	
MONDO:0004755	biolink:Disease	monieziasis	Infection of ruminants with tapeworms of the genus Moniezia.	UMLS:C0026414|MESH:D008989|DOID:931|EFO:1001372	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004755	UMLS:C0026414|DOID:931|http://identifiers.org/mesh/D008989	
MONDO:0004754	biolink:Disease	rectal prolapse	Protrusion of the rectum through the anus.	HP:0002035|MESH:D012005|ICD10CM:K62.3|UMLS:C0034888|DOID:9307|ICD9:569.1|NCIT:C34973	mondo.json	rectal prolapse (disease)|procidentia, rectum|rectal prolapse	http://purl.obolibrary.org/obo/MONDO_0004754	UMLS:C0034888|http://purl.bioontology.org/ontology/ICD10CM/K62.3|http://identifiers.org/mesh/D012005|NCIT:C34973|DOID:9307	
MONDO:0004751	biolink:Disease	disease of orbital part of eye adnexa	Diseases of the bony orbit and contents except the eyeball.	MESH:D009916|UMLS:C0029182|ICD9:376|ICD9:376.9|DOID:930	mondo.json	orbital disease	http://purl.obolibrary.org/obo/MONDO_0004751	http://identifiers.org/mesh/D009916|DOID:930|UMLS:C0029182	
MONDO:0004750	biolink:Disease	language disorder	A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect.	HP:0002463|MESH:D007806|NCIT:C97155|EFO:0005425|DOID:93	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004750	DOID:93|http://identifiers.org/mesh/D007806|NCIT:C97155	
CHR:9606-chr8q1	biolink:NamedThing	8q1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr8q1		
MONDO:0016739	biolink:Disease	yolk sac tumor of central nervous system	A malignant germ cell tumor of the central nervous system composed of primitive-appearing epithelial cells - putatively representing yolk sac endoderm - set in a loose, variably cellular, and often conspicuously myxoid matrix, resembling extra-embryonic mesoblast. Eosinophilic hyaline globules immunoreactive for AFP are a diagnostic feature. (WHO)	NCIT:C7011|UMLS:CN201987|Orphanet:252006	mondo.json	yolk Sac tumor of central nervous system|yolk Sac tumor of the central nervous system|endodermal sinus tumor of central nervous system|endodermal sinus tumor of CNS|intracranial yolk sac tumor|yolk Sac tumor of the CNS|yolk Sac tumor of CNS|central nervous system yolk Sac tumor|CNS yolk Sac tumor|intracranial endodermal sinus tumor|yolk sac tumor of CNS	http://purl.obolibrary.org/obo/MONDO_0016739	UMLS:CN201987|NCIT:C7011|Orphanet:252006	ordo_clinical_subtype
CHR:9606-chr8q2	biolink:NamedThing	8q2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr8q2		
CHEBI:83057	biolink:ChemicalSubstance	Daphnia metabolite	A crustacean metabolite produced by the genus of small planktonic arthropods, Daphnia		mondo.json	Daphnia metabolites	http://purl.obolibrary.org/obo/CHEBI_83057		
MONDO:0016746	biolink:Disease	meningeal melanocytoma	A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative.	NCIT:C4662|UMLS:C1266113|ICDO:8728/1|DOID:5900|SCTID:277527003|Orphanet:252046|EFO:1000370	mondo.json	meninges melanocytoma|melanocytoma of meninges|melanocytoma of the meninges|leptomeningeal melanocytoma	http://purl.obolibrary.org/obo/MONDO_0016746	NCIT:C4662|UMLS:C1266113|http://identifiers.org/snomedct/277527003|DOID:5900|Orphanet:252046	ordo_disease
MONDO:0016747	biolink:Disease	primary melanoma of the central nervous system	A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor.	Orphanet:252050|NCIT:C5505|UMLS:C0349626|UMLS:CN201994|GARD:0012016|ONCOTREE:PCNSM	mondo.json	central nervous system melanoma|melanoma (disease) of central nervous system|primary melanoma of the CNS|melanoma of central nervous system|melanoma of the Central nervous system|central nervous system melanoma (disease)|primary meningeal melanoma|melanoma of the CNS|melanoma of CNS|malignant melanoma of meninges|primary CNS melanoma|Central nervous system melanoma|CNS melanoma	http://purl.obolibrary.org/obo/MONDO_0016747	NCIT:C5505|UMLS:CN201994|Orphanet:252050|UMLS:C0349626	ordo_disease|gard_rare
CHEBI:83056	biolink:ChemicalSubstance	Daphnia magna metabolite	A Daphnia metabolite produced by the species Daphnia magna.		mondo.json	Daphnia magna metabolites	http://purl.obolibrary.org/obo/CHEBI_83056		
MONDO:0016748	biolink:Disease	hemangioblastoma	Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported.	ONCOTREE:HMBL|DOID:5241|UMLS:C0206734|ICD10CM:D33.4|NCIT:C3801|GARD:0008232|MedDRA:10018813|MESH:D018325|Orphanet:252054|ICDO:9161/1	mondo.json	HMBL|capillary hemangioblastoma|angioblastoma|hemangioblastoma	http://purl.obolibrary.org/obo/MONDO_0016748	NCIT:C3801|DOID:5241|UMLS:C0206734|Orphanet:252054|http://identifiers.org/mesh/D018325	ordo_disease
UBERON:0001394	biolink:AnatomicalEntity	axillary artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001394		
MONDO:0016749	biolink:Disease	tumor of cranial and spinal nerves		UMLS:CN201996|Orphanet:252057|GARD:0012697	mondo.json	rare tumor of cranial and spinal nerves	http://purl.obolibrary.org/obo/MONDO_0016749	UMLS:CN201996|Orphanet:252057	disease_grouping|gard_rare|ordo_group_of_disorders
MONDO:0016742	biolink:Disease	mixed germ cell tumor of central nervous system	A malignant germ cell tumor of the central nervous system characterized by the presence of at least two types of germ cell neoplasia.	UMLS:CN201989|NCIT:C7016|Orphanet:252021|UMLS:C1334785	mondo.json	mixed germ cell tumor of the CNS|CNS mixed germ cell tumor|mixed germ cell tumor of the central nervous system|central nervous system mixed germ cell tumor|mixed germ cell neoplasm of the central nervous system|mixed germ cell tumor of CNS	http://purl.obolibrary.org/obo/MONDO_0016742	UMLS:C1334785|UMLS:CN201989|NCIT:C7016|Orphanet:252021	ordo_clinical_subtype
MONDO:0016743	biolink:Disease	tumor of meninges	A benign or malignant neoplasm that affects the meninges. The majority of the neoplasms arise from meningothelial cells and are called meningiomas. Non-meningothelial cell neoplasms include mesenchymal, non-meningothelial tumors, hemangiopericytomas, and melanocytic lesions.	SCTID:126965008|Orphanet:252025|MedDRA:10061282|ICD9:239.7|UMLS:C0025284|ONCOTREE:MNGT|NCIT:C3229	mondo.json	tumor of meningeal cluster|meningeal tumor|meningeal neoplasm|tumor of meninges|tumor of the meninges|meningothelial tumor|meningeal neoplasms|meningeal cluster neoplasm (disease)|neoplasm of meningeal cluster|meninges neoplasm|meningeal cluster tumor|neoplasm of meninges|meningeal cluster rare nervous system tumor|neoplasm of the meninges|meninges tumor|meningeal cluster neoplasm	http://purl.obolibrary.org/obo/MONDO_0016743	NCIT:C3229|http://identifiers.org/snomedct/126965008|UMLS:C0025284|Orphanet:252025	disease_grouping|ordo_group_of_disorders
MONDO:0016744	biolink:Disease	primary melanocytic tumor of central nervous system		Orphanet:252028|UMLS:CN201991	mondo.json	primary melanocytic lesion of CNS|primary melanocytic tumor of CNS|primary melanocytic lesion of central nervous system	http://purl.obolibrary.org/obo/MONDO_0016744	UMLS:CN201991|Orphanet:252028	disease_grouping|ordo_group_of_disorders
MONDO:0016745	biolink:Disease	diffuse leptomeningeal melanocytosis	Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis.	Orphanet:252031	mondo.json	leptomeningeal melanomatosis|DLM	http://purl.obolibrary.org/obo/MONDO_0016745	Orphanet:252031	ordo_disease
MONDO:0016740	biolink:Disease	choriocarcinoma of the central nervous system	A malignant germ cell tumor of the central nervous system characterized by extra-embryonic differentiation along trophoblastic lines. The diagnosis requires the identification of cytotrophoblastic elements, as well as syncytiotrophoblastic giant cells. (WHO)	UMLS:CN201988|UMLS:C1332876|NCIT:C7012|Orphanet:252015	mondo.json	central nervous system choriocarcinoma (disease)|choriocarcinoma of the CNS|choriocarcinoma of CNS|central nervous system choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0016740	UMLS:CN201988|UMLS:C1332876|NCIT:C7012|Orphanet:252015	ordo_clinical_subtype
HGNC:8133	biolink:NamedThing	OLR1			mondo.json		http://identifiers.org/hgnc/8133		
MONDO:0016741	biolink:Disease	obsolete teratoma of the central nervous system			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016741		
MONDO:0004749	biolink:Disease	myocardium cancer	A malignant neoplasm involving the myocardium.	DOID:9299|NCIT:C4569|UMLS:C0346611	mondo.json	malignant myocardial tumor|malignant tumor of myocardium|malignant myocardial neoplasm|malignant tumor of the myocardium|malignant neoplasm of myocardium|tumor of myocardium|myocardium cancer|malignant neoplasm of the myocardium|malignant myocardium neoplasm|cancer of myocardium	http://purl.obolibrary.org/obo/MONDO_0004749	DOID:9299|NCIT:C4569|UMLS:C0346611	
MONDO:0002105	biolink:Disease	toxic megacolon	An acute form of megacolon, severe pathological dilatation of the colon. It is associated with clinical conditions such as ulcerative colitis; crohn disease; amebic dysentery; or clostridium enterocolitis.	SCTID:28536002|ICD9:564.7|MESH:D008532|UMLS:C0025162|ICD10CM:K59.31|DOID:1770	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002105	DOID:1770|http://purl.bioontology.org/ontology/ICD10CM/K59.31|UMLS:C0025162|http://identifiers.org/mesh/D008532|http://identifiers.org/snomedct/28536002	
MONDO:0004768	biolink:Disease	keratoconjunctivitis	Inflammation of both the cornea and the conjunctiva.	ICD9:370.49|NCIT:C34744|ICD10CM:H16.2|MESH:D007637|HP:0001096|ICD9:370.40|ICD9:370.8|SCTID:88151007|UMLS:C0022573|DOID:9368	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004768	http://identifiers.org/snomedct/88151007|http://purl.bioontology.org/ontology/ICD10CM/H16.2|NCIT:C34744|http://identifiers.org/mesh/D007637|UMLS:C0022573|DOID:9368	
MONDO:0004767	biolink:Disease	vesiculitis	An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle.	DOID:9365|NCIT:C12787|UMLS:C0042588|ICD9:608.0|SCTID:27001009	mondo.json	seminal vesicle|seminal vesicles|gland, seminal vesicle|seminal vesiculitis|seminal vesicle inflammation|inflammation of seminal vesicle|seminal Sacs	http://purl.obolibrary.org/obo/MONDO_0004767	NCIT:C12787|http://identifiers.org/snomedct/27001009|UMLS:C0042588|DOID:9365	
MONDO:0002106	biolink:Disease	labyrinthine unilateral reactive loss		UMLS:C0155519|DOID:1776|ICD9:386.55	mondo.json	loss of labyrinthine reactivity, unilateral|unilateral loss of labyrinthine reactivity	http://purl.obolibrary.org/obo/MONDO_0002106	DOID:1776|UMLS:C0155519	
MONDO:0002107	biolink:Disease	unilateral hyperactive labyrinth		DOID:1777|UMLS:C0155515|ICD9:386.51	mondo.json	hyperactive unilateral labyrinthine dysfunction|hyperactive labyrinth, unilateral	http://purl.obolibrary.org/obo/MONDO_0002107	DOID:1777|UMLS:C0155515	
MONDO:0002108	biolink:Disease	thyroid cancer	A malignant neoplasm involving the thyroid gland	ICD9:193|UMLS:CN221577|KEGG:05216|SCTID:363478007|NCIT:C7510|DOID:1781	mondo.json	malignant neoplasm of the thyroid gland|malignant neoplasm of thyroid gland|malignant neoplasm of the thyroid|malignant thyroid gland tumor|malignant thyroid gland neoplasm|malignant neoplasm of thyroid|malignant thyroid neoplasm|malignant thyroid tumor|thyroid gland cancer|malignant tumor of the thyroid gland|malignant tumour of thyroid gland|malignant tumor of thyroid gland|malignant tumor of the thyroid|neoplasm of thyroid gland|malignant tumor of thyroid|cancer of thyroid gland|thyroid gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0002108	UMLS:CN221577|DOID:1781|http://identifiers.org/snomedct/363478007|NCIT:C7510	
MONDO:0004769	biolink:Disease	orbital plasma cell granuloma	A nonspecific tumor-like inflammatory lesion in the orbit of the eye. It is usually composed of mature lymphocytes; plasma cells; macrophages; leukocytes with varying degrees of fibrosis. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (orbital myositis) or inflammation of the lacrimal glands (dacryoadenitis).	SCTID:80698001|MESH:D016727|SCTID:72789009|ICD9:376.12|NCIT:C117296|DOID:9369	mondo.json	orbital inflammatory pseudotumors|granuloma, plasma cell, orbital|orbital inflammatory pseudotumor|inflammatory pseudotumor, orbital|orbital granuloma, plasma cell|inflammatory pseudotumor of orbit|pseudotumor of orbit|pseudotumor, orbital|pseudotumor, inflammatory, orbital|orbital myositis|pseudotumors, orbital|orbital pseudotumors|plasma cell granuloma, orbital|pseudotumor, orbital inflammatory|inflammatory pseudotumors, orbital	http://purl.obolibrary.org/obo/MONDO_0004769	DOID:9369|http://identifiers.org/mesh/D016727|NCIT:C117296|http://identifiers.org/snomedct/72789009|http://identifiers.org/snomedct/80698001	
MONDO:0004764	biolink:Disease	fibular collateral ligament bursitis		UMLS:C0158316|ICD9:726.63|SCTID:77323000|DOID:9358	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004764	http://identifiers.org/snomedct/77323000|UMLS:C0158316|DOID:9358	
MONDO:0002101	biolink:Disease	facial nerve neoplasm	A neoplasm involving a facial nerve.	SCTID:126973004|NCIT:C5827|DOID:1760|UMLS:C1263899|ICD9:239.7	mondo.json	neoplasm of facial nerve|neoplasm of Facial nerve|neoplasm of the Facial nerve|seventh cranial nerve neoplasm|neoplasm of the seventh cranial nerve|neoplasm of seventh cranial nerve|seventh cranial nerve tumor|facial nerve neoplasms|facial nerve neoplasm|seventh cranial nerve tumors|tumor of facial nerve|facial nerve tumor|seventh cranial nerve neoplasms|facial nerve tumors|tumor of the Facial nerve|tumor of the seventh cranial nerve|tumor of Facial nerve|tumor of seventh cranial nerve|facial nerve neoplasm (disease)|VIIth cranial nerve neoplasms|VIIth cranial nerve tumors	http://purl.obolibrary.org/obo/MONDO_0002101	NCIT:C5827|UMLS:C1263899|http://identifiers.org/snomedct/126973004|DOID:1760	
MONDO:0002102	biolink:Disease	cheilitis	An inflammatory process affecting the lip.	HP:0100825|SCTID:7847004|UMLS:C0007971|DOID:1762|MESH:D002613|NCIT:C79545	mondo.json	lip inflammation|inflammation of lip	http://purl.obolibrary.org/obo/MONDO_0002102	DOID:1762|NCIT:C79545|http://identifiers.org/mesh/D002613|http://identifiers.org/snomedct/7847004|UMLS:C0007971	
MONDO:0004763	biolink:Disease	carotid artery dissection	Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke.	ICD9:443.21|SCTID:720626009|NCIT:C125662|ICD10CM:I77.71|DOID:9348|UMLS:C0338585	mondo.json	dissection of carotid artery	http://purl.obolibrary.org/obo/MONDO_0004763	http://purl.bioontology.org/ontology/ICD10CM/I77.71|UMLS:C0338585|DOID:9348|NCIT:C125662|http://identifiers.org/snomedct/720626009	
MONDO:0002103	biolink:Disease	factitious disorder	A category of psychiatric disorders which are characterized by physical or psychological symptoms that are intentionally produced in order to assume the sick role; there is no external incentive for the behavior, such as economic gain or avoiding legal responsibility, and the person is unaware of any self-motivating factors.	NCIT:C92198|MESH:D009110|DOID:1766|ICD9:300.16|ICD9:300.19|SCTID:50705009	mondo.json	Munchausen syndrome	http://purl.obolibrary.org/obo/MONDO_0002103	DOID:1766|http://identifiers.org/snomedct/50705009|http://identifiers.org/mesh/D009110|NCIT:C92198	
MONDO:0004766	biolink:Disease	status asthmaticus	An acute exacerbation of asthma, characterized by inadequate response to initial bronchodilators.	UMLS:C0038218|DOID:9362|ICD9:493.91|SCTID:708090002|EFO:0008590|NCIT:C122577|MESH:D013224	mondo.json	asthma with status asthmaticus|severe asthma attack	http://purl.obolibrary.org/obo/MONDO_0004766	NCIT:C122577|UMLS:C0038218|http://identifiers.org/mesh/D013224|http://identifiers.org/snomedct/708090002|DOID:9362	
HGNC:8140	biolink:NamedThing	OPA1			mondo.json		http://identifiers.org/hgnc/8140		
MONDO:0002104	biolink:Disease	conversion disorder	Conversion disorder is a disorder in which a person experiences blindness, paralysis, or other symptoms affecting the nervous system that cannot be explained solely by a physical illness or injury. Symptoms usually begin suddenly after a period of emotional or physical distress or psychological conflict. Conversion disorder is thought to be caused by the bodys reaction to a stressful physical or emotional event. Some research has identified potential neurological changes that may be related to symptoms of the disorder. Diagnosis of conversion disorder is based on identifying particular signs that are common among people with the disorder, as well as performing tests to rule out other causes of the symptoms. Treatment may include psychotherapy, hypnosis, and stress management training to help reduce symptoms. Treatment of any underlying psychological disorder is also recommended. The affected body part may require physical or occupational therapy until symptoms resolve.	DOID:1768|MESH:D003291|GARD:0006191|ICD9:300.11	mondo.json	hysterical neurosis, conversion type|FND|conversion hysterical neurosis|functional neurological disorder|conversion hysteria or reaction|functional movement disorder	http://purl.obolibrary.org/obo/MONDO_0002104	DOID:1768|http://identifiers.org/mesh/D003291	gard_rare
MONDO:0004765	biolink:Disease	intrinsic asthma	An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness.	SCTID:266361008|DOID:9360|ICD9:493.1|UMLS:C0155880	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004765	http://identifiers.org/snomedct/266361008|UMLS:C0155880|DOID:9360	
MONDO:0004760	biolink:Disease	urethral false passage		ICD9:599.4|SCTID:74944002|ICD10CM:N36.5|DOID:9339	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004760	http://purl.bioontology.org/ontology/ICD10CM/N36.5|http://identifiers.org/snomedct/74944002|DOID:9339	
MONDO:0004762	biolink:Disease	Taylor syndrome		UMLS:C0152078|ICD9:625.5|SCTID:39402007|DOID:9346	mondo.json	Taylor's syndrome|pelvic congestion syndrome|congestion-fibrosis syndrome	http://purl.obolibrary.org/obo/MONDO_0004762	http://identifiers.org/snomedct/39402007|DOID:9346|UMLS:C0152078	
MONDO:0004761	biolink:Disease	obsolete urethral diverticulum		ICD9:599.2|DOID:9341	mondo.json	obsolete urethral diverticulum (disease)	http://purl.obolibrary.org/obo/MONDO_0004761	DOID:9341	
MONDO:0002100	biolink:Disease	cardiovascular cancer	A primary or metastatic malignant neoplasm involving the cardiovascular system.	DOID:176|NCIT:C114940|UMLS:C3898472|UMLS:C0497243	mondo.json	cancer of cardiovascular system|malignant cardiovascular neoplasm|cardiovascular tumors|malignant neoplasm of cardiovascular system|malignant cardiovascular system neoplasm|cardiovascular system cancer|cardiovascular neoplasm	http://purl.obolibrary.org/obo/MONDO_0002100	DOID:176|UMLS:C3898472|NCIT:C114940|UMLS:C0497243	
MONDO:0016728	biolink:Disease	obsolete cerebellar liponeurocytoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016728		
MONDO:0016729	biolink:Disease	mixed neuronal-glial tumor	A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO)	UMLS:C0474844|Orphanet:251934|NCIT:C4747|UMLS:CN201977	mondo.json	neuronal and mixed neuronal-glial tumors|neuronal and Glio-neuronal tumor|neuronal and Glio-neuronal neoplasm|neuronal and mixed neuronal-glial tumor	http://purl.obolibrary.org/obo/MONDO_0016729	UMLS:C0474844|Orphanet:251934|NCIT:C4747|UMLS:CN201977	ordo_group_of_disorders|disease_grouping
MONDO:0016735	biolink:Disease	papillary glioneuronal tumor	A WHO grade I, indolent and relatively circumscribed brain tumor. Morphologically it is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. In between the pseudopapillae aggregates of neurocytes, large neurons, and ganglioid cells are present.	ONCOTREE:PGNT|UMLS:C2985174|Orphanet:251962|NCIT:C92554|ICDO:9509/1	mondo.json	pseudopapillary neurocytoma with glial differentiation|PGNT|pseudopapillary ganglioglioneurocytoma|papillary glioneuronal tumor (WHO grade I)	http://purl.obolibrary.org/obo/MONDO_0016735	UMLS:C2985174|Orphanet:251962|NCIT:C92554	ordo_disease
MONDO:0016736	biolink:Disease	rosette-forming glioneuronal tumor of fourth ventricule	A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal.	Orphanet:251975|UMLS:C4331262|UMLS:CN201984|NCIT:C129431	mondo.json	DNT of the cerebellum|dysembryoplastic neuroepithelial tumor of cerebellum|RGNT|rosette-forming glioneuronal tumor	http://purl.obolibrary.org/obo/MONDO_0016736	Orphanet:251975|NCIT:C129431|UMLS:CN201984|UMLS:C4331262	ordo_disease
HGNC:8149	biolink:NamedThing	OPLAH			mondo.json		http://identifiers.org/hgnc/8149		
UBERON:0001383	biolink:AnatomicalEntity	muscle of leg			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001383		
MONDO:0016737	biolink:Disease	obsolete ganglioneuroma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016737		
HGNC:18806	biolink:NamedThing	CAMTA1			mondo.json		http://identifiers.org/hgnc/18806		
MONDO:0016738	biolink:Disease	primary germ cell tumor of central nervous system		UMLS:CN201986|Orphanet:251995	mondo.json	primary germ cell tumor of CNS	http://purl.obolibrary.org/obo/MONDO_0016738	Orphanet:251995|UMLS:CN201986	disease_grouping|ordo_group_of_disorders
MONDO:0016731	biolink:Disease	desmoplastic infantile astrocytoma/ganglioglioma	Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures.	UMLS:CN201979|Orphanet:251940	mondo.json	DIA/DIG	http://purl.obolibrary.org/obo/MONDO_0016731	Orphanet:251940|UMLS:CN201979	ordo_disease
MONDO:0016732	biolink:Disease	obsolete dysembryoplastic neuroepithelial tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016732		
MONDO:0016733	biolink:Disease	ganglioglioma	A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO)	DOID:5078|ONCOTREE:GNG|NCIT:C3788|EFO:0003094|SCTID:87191000119100|MESH:D018303|MedDRA:10017701|ICDO:9505/1|Orphanet:251949|GARD:0002430|UMLS:C0206716	mondo.json	adult ganglioglioma|childhood ganglioglioma|CNS ganglioglioma|ganglioglioma|mixed cell tumors containing both neural ganglionic cells and neural glial cell components	http://purl.obolibrary.org/obo/MONDO_0016733	Orphanet:251949|NCIT:C3788|DOID:5078|http://identifiers.org/snomedct/87191000119100|UMLS:C0206716|http://identifiers.org/mesh/D018303	ordo_disease|gard_rare
HGNC:18801	biolink:NamedThing	POGZ			mondo.json		http://identifiers.org/hgnc/18801		
MONDO:0016734	biolink:Disease	anaplastic ganglioglioma	A WHO grade III neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and anaplastic glial cells. The anaplastic changes in the glial component and high MIB-1 and TP53 labeling indices may indicate aggressive behavior. However, the correlation of histological anaplasia with clinical outcome is inconsistent. (Adapted from WHO)	Orphanet:251957|ONCOTREE:AGNG|ICDO:9505/3|GARD:0010639|NCIT:C4717|UMLS:C0431112	mondo.json	AGNG	http://purl.obolibrary.org/obo/MONDO_0016734	Orphanet:251957|NCIT:C4717|UMLS:C0431112	ordo_disease|gard_rare
HGNC:18802	biolink:NamedThing	ATPAF2			mondo.json		http://identifiers.org/hgnc/18802		
HGNC:8142	biolink:NamedThing	OPA3			mondo.json		http://identifiers.org/hgnc/8142		
NCBITaxon:35789	biolink:OrganismalEntity	Rickettsia helvetica		GC_ID:11|PMID:8102245	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_35789		
MONDO:0016730	biolink:Disease	gangliocytoma	A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells.	NCIT:C6934|GARD:0010638|UMLS:CN201978|ONCOTREE:GNC|DOID:2426|MESH:D005729|ICDO:9492/0|UMLS:C0017075|Orphanet:251937|SCTID:116371000119107	mondo.json	GNC	http://purl.obolibrary.org/obo/MONDO_0016730	http://identifiers.org/mesh/D005729|Orphanet:251937|UMLS:CN201978|DOID:2426|NCIT:C6934	gard_rare|ordo_disease
NCBITaxon:35788	biolink:OrganismalEntity	Rickettsia africae		GC_ID:11|PMID:8934912|PMID:7902843	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_35788		
HGNC:8143	biolink:NamedThing	OPCML			mondo.json		http://identifiers.org/hgnc/8143		
UBERON:0001384	biolink:AnatomicalEntity	primary motor cortex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001384		
HGNC:8148	biolink:NamedThing	OPHN1			mondo.json		http://identifiers.org/hgnc/8148		
MONDO:0004735	biolink:Disease	obsolete Alagille syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004735		
MONDO:0004734	biolink:Disease	obsolete erythromelalgia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004734		
MONDO:0004737	biolink:Disease	homocystinuria	An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.	MESH:D006712|GARD:0010770|ICD10CM:E72.11|HP:0002156|UMLS:C0019880|NCIT:C84765|SCTID:11282001|DOID:9263	mondo.json	cystathionine beta synthase deficiency|cystathionine synthase deficiency|homocystinuria|CBS deficiency|homocystinuria (disease)	http://purl.obolibrary.org/obo/MONDO_0004737	http://identifiers.org/snomedct/11282001|http://identifiers.org/mesh/D006712|UMLS:C0019880|DOID:9263|NCIT:C84765|http://purl.bioontology.org/ontology/ICD10CM/E72.11	
MONDO:0004736	biolink:Disease	inborn disorder of amino acid metabolism	An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.	SCTID:44779003|SCTID:42930003|MESH:D000592|ICD9:270|DOID:9252|ICD9:270.9|GARD:0006770	mondo.json	inborn errors of amino acid metabolism|inborn cellular amino acid metabolic process disorder|inborn amino acid metabolism disorder|inherited amino acid metabolic disorder|amino acid metabolism, inborn errors|rare inborn error of cellular amino acid metabolic process|inborn error of amino acid metabolism|amino acid metabolic disorder|inborn error of cellular amino acid metabolic process	http://purl.obolibrary.org/obo/MONDO_0004736	DOID:9252|http://identifiers.org/snomedct/42930003|http://identifiers.org/mesh/D000592	
MONDO:0004731	biolink:Disease	central sleep apnea syndrome	A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health.	MESH:D020182|ICD9:327.21|SCTID:27405005|DOID:9220|NCIT:C27169|UMLS:C3887547	mondo.json	central sleep-disordered breathing|central sleep-disordered Breathings|central sleep apnea, primary|central alveolar hypoventilation syndrome|sleep Apneas, central|central apnea|Apneas, central sleep|central alveolar hypoventilation|hypoventilations, central alveolar|apnea, central sleep|primary central sleep apnea|alveolar hypoventilation, central|central sleep Apneas|central sleep apnea syndrome|sleep-disordered breathing, central|Apneas, central|apnea, sleep, central|central sleep apnea, secondary|sleep disordered breathing, central|central sleep apnea|ondine syndrome|apnea, central|breathing, central sleep-disordered|Breathings, central sleep-disordered|central sleep disordered breathing|sleep-disordered Breathings, central|secondary central sleep apnea|hypoventilation, central alveolar|sleep apnea, lethal central|central Apneas|alveolar hypoventilations, central	http://purl.obolibrary.org/obo/MONDO_0004731	DOID:9220|http://identifiers.org/mesh/D020182|UMLS:C3887547|http://identifiers.org/snomedct/27405005|NCIT:C27169	
GO:1901505	biolink:NamedThing	carbohydrate derivative transmembrane transporter activity	Enables the transfer of carbohydrate derivative from one side of a membrane to the other.		mondo.json	carbohydrate derivative transporter activity	http://purl.obolibrary.org/obo/GO_1901505		
MONDO:0004730	biolink:Disease	speech disorder	A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders.	MESH:D013064|ICD9:784.40|NCIT:C5041|DOID:92|ICD9:784.49|UMLS:C0037822|SCTID:47004009	mondo.json	speech impediment or impairment	http://purl.obolibrary.org/obo/MONDO_0004730	DOID:92|http://identifiers.org/mesh/D013064|http://identifiers.org/snomedct/47004009|UMLS:C0037822|NCIT:C5041	
CHEBI:24745	biolink:ChemicalSubstance	hydroxypyridine	Any member of the class of pyridines with at least one hydroxy substituent.		mondo.json	hydroxypyridines	http://purl.obolibrary.org/obo/CHEBI_24745		
MONDO:0004733	biolink:Disease	pyriform sinus cancer	A primary or metastatic malignant neoplasm that affects the pyriform sinus.	SCTID:363401000|DOID:9235|ICD9:148.1|ICD10CM:C12|UMLS:C0153400|NCIT:C3531	mondo.json	malignant tumor of pyriform fossa|malignant tumor of the pyriform fossa|malignant tumor of pyriform sinus|malignant tumor of the pyriform sinus|malignant pyriform sinus neoplasm|malignant pyriform fossa tumor|malignant neoplasm of pyriform sinus|malignant pyriform fossa neoplasm|malignant neoplasm of the pyriform sinus|malignant pyriform sinus tumor|malignant neoplasm of pyriform fossa|malignant neoplasm of the pyriform fossa	http://purl.obolibrary.org/obo/MONDO_0004733	DOID:9235|UMLS:C0153400|http://identifiers.org/snomedct/363401000|NCIT:C3531|http://purl.bioontology.org/ontology/ICD10CM/C12	
GO:1901503	biolink:NamedThing	ether biosynthetic process	The chemical reactions and pathways resulting in the formation of ether.		mondo.json	ether formation|ether biosynthesis|ether anabolism|ether synthesis	http://purl.obolibrary.org/obo/GO_1901503		
MONDO:0004732	biolink:Disease	kidney carcinoma in situ	A carcinoma in situ involving a kidney.	UMLS:C0686172|DOID:9234|SCTID:92624000|ICD9:233.9	mondo.json	stage 0 kidney carcinoma|kidney in situ carcinoma|carcinoma in situ of kidney	http://purl.obolibrary.org/obo/MONDO_0004732	DOID:9234|UMLS:C0686172|http://identifiers.org/snomedct/92624000	
MONDO:0016717	biolink:Disease	choroid plexus neoplasm	An intraventricular papillary neoplasm that originates from the choroid plexus epithelium. It includes the choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma.	SCTID:254942002|Orphanet:251896|UMLS:C0085138|NCIT:C3473|ONCOTREE:CPT	mondo.json	tumor of choroid plexus|tumor of the choroid plexus|choroid plexus neoplasm|neoplasm of choroid plexus|choroid plexus tumor|neoplasm of the choroid plexus	http://purl.obolibrary.org/obo/MONDO_0016717	Orphanet:251896|NCIT:C3473|UMLS:C0085138|http://identifiers.org/snomedct/254942002	ordo_group_of_disorders|disease_grouping
MONDO:0016718	biolink:Disease	choroid plexus carcinoma	A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO)	MESH:C562943|ONCOTREE:CPC|OMIM:260500|ICDO:9390/3|GARD:0008238|Orphanet:251899|SCTID:188292007|DOID:5648|NCIT:C4715|MedDRA:10067478	mondo.json	malignant tumor of choroid plexus|carcinoma, choroid plexus, malignant|cancer of choroid plexus|choroid plexus cancer|choroid plexus carcinoma|cancer of the choroid plexus|anaplastic choroid plexus papilloma|malignant neoplasm of choroid plexus|malignant neoplasm of the choroid plexus|choroid plexus carcinoma (morphologic abnormality)|carcinoma of choroid plexus|carcinoma of the choroid plexus	http://purl.obolibrary.org/obo/MONDO_0016718	http://identifiers.org/snomedct/188292007|Orphanet:251899|http://identifiers.org/mesh/C562943|NCIT:C4715|DOID:5648	ordo_disease
MONDO:0016719	biolink:Disease	microcephaly-seizures-intellectual disability-heart disease syndrome	Microcephaly-seizures-intellectual disability-heart disease syndrome is characterised by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males.	MESH:C537544|GARD:0003632|UMLS:C2931529|Orphanet:2519	mondo.json	microcephaly seizures intellectual disability heart disorders|microcephaly, seizures, intellectual disability, congenital heart disease, and skeletal abnormalities|microcephaly seizures mental retardation heart disorders|microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities	http://purl.obolibrary.org/obo/MONDO_0016719	http://identifiers.org/mesh/C537544|UMLS:C2931529|Orphanet:2519	ordo_malformation_syndrome
MONDO:0016724	biolink:Disease	papillary tumor of the pineal region	Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus.	Orphanet:251915|ICDO:9395/3|NCIT:C92624|ONCOTREE:PTPR|EFO:1000451|UMLS:C2985219	mondo.json	PTPR	http://purl.obolibrary.org/obo/MONDO_0016724	UMLS:C2985219|Orphanet:251915|NCIT:C92624	ordo_disease
MONDO:0016725	biolink:Disease	pineal parenchymal tumor of intermediate differenciation	Pineal parenchymal tumor of intermediate differentiation (PPTID) describes a rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID or grade III PPTID according to the degree of neuronal differentiation and mitotic activity.	UMLS:CN201973|Orphanet:251919	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016725	Orphanet:251919|UMLS:CN201973	ordo_disease
MONDO:0016726	biolink:Disease	neuronal tumor		Orphanet:251924|UMLS:CN201974	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016726	Orphanet:251924|UMLS:CN201974	ordo_group_of_disorders|disease_grouping
MONDO:0016727	biolink:Disease	extraventricular neurocytoma	Extraventricular neurocytoma (EVN), a variant of central neurocytoma, is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior.	Orphanet:251927|UMLS:C2985175|ICDO:9506/1|SCTID:716787002|ONCOTREE:EVN|UMLS:CN201975|NCIT:C92555	mondo.json	EVN|extraventricular neurocytoma (WHO grade II)	http://purl.obolibrary.org/obo/MONDO_0016727	UMLS:C2985175|Orphanet:251927|http://identifiers.org/snomedct/716787002|UMLS:CN201975|NCIT:C92555	ordo_disease
MONDO:0016720	biolink:Disease	obsolete atypical papilloma of choroid plexus			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016720		
MONDO:0016721	biolink:Disease	pineal tumor of neuroepithelial tissue		UMLS:CN201969|Orphanet:251905	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016721	Orphanet:251905|UMLS:CN201969	ordo_group_of_disorders|disease_grouping
MONDO:0016722	biolink:Disease	pineoblastoma	Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.	UMLS:C0205898|GARD:0009369|DOID:1664|MedDRA:10050487|NCIT:C9344|ONCOTREE:PBL|EFO:1000475|Orphanet:251909|ICDO:9362/3	mondo.json	pineal primitive neuroectodermal tumor|primitive neuroectodermal neoplasm of pineal gland|primitive neuroectodermal neoplasm of the pineal gland|pineoblastoma|pineal primitive neuroectodermal neoplasm|pineal gland primitive neuroectodermal neoplasm|primitive neuroectodermal tumor of pineal gland|primitive neuroectodermal tumor of the pineal gland|PNET of pineal gland|pineal PNET|PNET of the pineal gland|pineoblastoma, malignant|pineal gland PNET|pineoblastoma (WHO grade IV)|pineal gland primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/MONDO_0016722	UMLS:C0205898|DOID:1664|Orphanet:251909|NCIT:C9344	gard_rare|ordo_disease
MONDO:0016723	biolink:Disease	pineocytoma	Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis.	ONCOTREE:PINC|SCTID:255045009|Orphanet:251912|HP:0030407|UMLS:C0917890|ICDO:9361/1|EFO:1000476|MedDRA:10035059|NCIT:C6966|GARD:0008207	mondo.json	pineocytoma|pineocytoma (disease)|benign pinealoma|pineocytoma, benign|pinealocytoma|Pineocytoma (WHO grade I)	http://purl.obolibrary.org/obo/MONDO_0016723	NCIT:C6966|Orphanet:251912|http://identifiers.org/snomedct/255045009|UMLS:C0917890	ordo_disease
OIO:hasOBOFormatVersion	biolink:NamedThing	has_obo_format_version			mondo.json		http://www.geneontology.org/formats/oboInOwl#hasOBOFormatVersion		
MONDO:0004728	biolink:Disease	diabetic macular edema		UMLS:C0730285|DOID:9191|SCTID:312912001|ICD9:362.07	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004728	http://identifiers.org/snomedct/312912001|DOID:9191|UMLS:C0730285	
HGNC:8157	biolink:NamedThing	SIGMAR1			mondo.json		http://identifiers.org/hgnc/8157		
MONDO:0004727	biolink:Disease	vestibule of mouth cancer	A cancer that involves the oral opening.	UMLS:C0153374|ICD10CM:C06.1|ICD9:145.1|SCTID:187658004|DOID:9188	mondo.json	malignant neoplasm of oral opening|malignant neoplasm of vestibule of mouth|oral opening cancer|malignant oral opening neoplasm|malignant tumor of vestibule of mouth|cancer of oral opening	http://purl.obolibrary.org/obo/MONDO_0004727	http://purl.bioontology.org/ontology/ICD10CM/C06.1|DOID:9188|UMLS:C0153374|http://identifiers.org/snomedct/187658004	
MONDO:0004729	biolink:Disease	dyskinesia of esophagus	Disorders affecting the motor function of the upper esophageal sphincter; lower esophageal sphincter; the esophagus body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (gastroesophageal reflux). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus).	DOID:9192|UMLS:C0014858|ICD9:530.5|SCTID:266434009|ICD10CM:K22.4|EFO:1001785|MESH:D015154	mondo.json	esophageal motility disorder|dyskinesia of oesophagus|oesophageal motor disorder|esophageal dysmotility|oesophageal dysmotility	http://purl.obolibrary.org/obo/MONDO_0004729	UMLS:C0014858|DOID:9192|http://purl.bioontology.org/ontology/ICD10CM/K22.4|http://identifiers.org/mesh/D015154|http://identifiers.org/snomedct/266434009	
MONDO:0004746	biolink:Disease	myopathy of extraocular muscle	A myopathy that involves the extra-ocular muscle.	SCTID:57130002|DOID:929|ICD9:376.82|UMLS:C0155286	mondo.json	myopathy of extraocular muscles|myopathy of extra-ocular muscle|extra-ocular muscle myopathy	http://purl.obolibrary.org/obo/MONDO_0004746	DOID:929|http://identifiers.org/snomedct/57130002|UMLS:C0155286	
MONDO:0004745	biolink:Disease	priapism	Persistent and usually painful erection that lasts for at least four hours in the absence of physical or psychological stimulation, which can be caused by hematologic disorders, including sickle cell disease and leukemia, spinal cord injuries, and medications.	SCTID:6273006|ICD9:607.3|ICD10CM:N48.3|DOID:9286|MESH:D011317|UMLS:C0033117|Orphanet:140949	mondo.json	Mentulagra	http://purl.obolibrary.org/obo/MONDO_0004745	DOID:9286|UMLS:C0033117|http://identifiers.org/snomedct/6273006|Orphanet:140949|http://identifiers.org/mesh/D011317|http://purl.bioontology.org/ontology/ICD10CM/N48.3	
MONDO:0004748	biolink:Disease	lip disorder	A disease involving the lip.	UMLS:C0023760|SCTID:90678009|MESH:D008047|NCIT:C26818|ICD9:528.5|DOID:9297	mondo.json	lip disorder|disease of lip|lip disease or disorder|disease of lips|disorder of lip|lip disease|disease or disorder of lip	http://purl.obolibrary.org/obo/MONDO_0004748	UMLS:C0023760|DOID:9297|NCIT:C26818|http://identifiers.org/mesh/D008047|http://identifiers.org/snomedct/90678009	
MONDO:0004747	biolink:Disease	cleft lip	A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse.	MESH:D002971|ICD9:749.1|ICD9:749.10|NCIT:C87175|ICD9:749.11|SCTID:80281008|DOID:9296|EFO:0003959|HP:0410030	mondo.json	cheiloschisis|cleft lip, unilateral, complete|hare lip|cleft lip|cleft lip (disease)|complete unilateral cleft lip|labium leporinum	http://purl.obolibrary.org/obo/MONDO_0004747	http://identifiers.org/snomedct/80281008|DOID:9296|http://identifiers.org/mesh/D002971|NCIT:C87175	
MONDO:0004742	biolink:Disease	primary cerebellar degeneration	A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.	ICD9:334.2|DOID:9277|UMLS:C0033132|SCTID:23732000	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004742	DOID:9277|UMLS:C0033132|http://identifiers.org/snomedct/23732000	
MONDO:0004741	biolink:Disease	tyrosinemia	An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs.	ICD9:270.2|OMIMPS:276700|DOID:9275|SCTID:190694001|UMLS:C0268483|NCIT:C98640|MESH:D020176|ICD10CM:E70.21	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004741	https://omim.org/phenotypicSeries/PS276700|http://identifiers.org/mesh/D020176|UMLS:C0268483|http://purl.bioontology.org/ontology/ICD10CM/E70.21|http://identifiers.org/snomedct/190694001|DOID:9275|NCIT:C98640	
UBERON:0001359	biolink:AnatomicalEntity	cerebrospinal fluid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001359		
MONDO:0004744	biolink:Disease	borderline glaucoma		SCTID:193531003|ICD9:365.00|DOID:9283|UMLS:C1533674	mondo.json	Preglaucoma	http://purl.obolibrary.org/obo/MONDO_0004744	DOID:9283|http://identifiers.org/snomedct/193531003|UMLS:C1533674	
MONDO:0004743	biolink:Disease	hyperhomocysteinemia	A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents.	UMLS:C0598608|DOID:9279|SCTID:419503008|MESH:D020138|OMIM:603174|GARD:0008230|NCIT:C84770|UMLS:C3495426	mondo.json	hyperhomocysteinemia|homocysteinemia	http://purl.obolibrary.org/obo/MONDO_0004743	DOID:9279|http://identifiers.org/snomedct/419503008|http://identifiers.org/mesh/D020138|NCIT:C84770|UMLS:C0598608|UMLS:C3495426|https://omim.org/entry/603174	gard_rare
MONDO:0004740	biolink:Disease	obsolete hyperlysinemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004740		
MONDO:0016706	biolink:Disease	chordoid glioma of the third ventricle	A rare, slow-growing neuroepithelial neoplasm of uncertain origin affecting adults. It is located in the third ventricle. It is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates.	DOID:3774|UMLS:C1322252|DOID:3773|GARD:0010636|ONCOTREE:CHGL|NCIT:C5592|SCTID:715900001|ICDO:9444/1|Orphanet:251674	mondo.json	chordoid glioma|chordoid glioma of the 3rd ventricle|third ventricle chordoid glioma|chordoid glioma of third ventricle|chordoid glioma of the third ventricle (WHO grade II)|chordoid glioma of the third ventricle|chordoid glioma of 3rd ventricle|chordoid glioma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0016706	DOID:3774|DOID:3773|Orphanet:251674|NCIT:C5592|UMLS:C1322252|http://identifiers.org/snomedct/715900001	ordo_disease|gard_rare
CHR:9606-chr8p1	biolink:NamedThing	8p1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr8p1		
CHR:9606-chr8p2	biolink:NamedThing	8p2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr8p2		
MONDO:0016707	biolink:Disease	astroblastoma	Astroblastoma is a very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches.	DOID:7305|ONCOTREE:ASTB|NCIT:C4324|ICDO:9430/3|Orphanet:251679|UMLS:C0334587|GARD:0010635	mondo.json	cerebral astroblastoma|AstB|astroblastoma (morphologic abnormality)|astroblastoma	http://purl.obolibrary.org/obo/MONDO_0016707	Orphanet:251679|NCIT:C4324|UMLS:C0334587|DOID:7305	ordo_disease|gard_rare
MONDO:0016708	biolink:Disease	embryonal tumor of neuroepithelial tissue		UMLS:CN201955|Orphanet:251852	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016708	UMLS:CN201955|Orphanet:251852	disease_grouping|ordo_group_of_disorders
MONDO:0016709	biolink:Disease	anaplastic/large cell medulloblastoma	A medulloblastoma composed of sheets of large cells mixed with cells characterized by marked nuclear pleomorphism and high mitotic activity.	ONCOTREE:AMBL|UMLS:C4330531|Orphanet:251855|NCIT:C129436	mondo.json	large cell/anaplastic medulloblastoma	http://purl.obolibrary.org/obo/MONDO_0016709	NCIT:C129436|UMLS:C4330531|Orphanet:251855	ordo_histopathological_subtype
MONDO:0016713	biolink:Disease	central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor	A rare Ewing sarcoma/peripheral primitive neuroectodermal tumor that affects the central nervous system either as a primary dural neoplasm or by direct extension from adjacent soft tissues or bone.	MedDRA:10057846|NCIT:C129537|Orphanet:251870	mondo.json	CNS PNET|central nervous system PNET|central nervous system primitive neuroectodermal tumor|central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/MONDO_0016713	Orphanet:251870|NCIT:C129537	disease_grouping|ordo_group_of_disorders
MONDO:0016714	biolink:Disease	obsolete ganglioneuroblastoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016714		
MONDO:0016715	biolink:Disease	ependymoblastoma	Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis.	Orphanet:251880|NCIT:C4915|UMLS:C0700367|DOID:4794|DOID:0080903|GARD:0006352|ONCOTREE:ETANTR|MedDRA:10014966|SCTID:715901002	mondo.json	embryonal tumor with abundant neuropil and true rosettes|embryonal tumor with abundant neuropil and true Rosettes|ETANTR|embryonal tumor with Multilayered Rosettes with C19MC amplification|ependymoblastoma|ETMR|embryonal tumor with Multilayered Rosettes, C19MC-altered|neuroectodermal tumors primitive|embryonal tumor with Multilayered Rosettes|ETMR, C19MC-altered	http://purl.obolibrary.org/obo/MONDO_0016715	DOID:0080903|Orphanet:251880|UMLS:C0700367|NCIT:C4915|http://identifiers.org/snomedct/715901002	ordo_disease
UBERON:0001361	biolink:AnatomicalEntity	femoral vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001361		
MONDO:0016716	biolink:Disease	obsolete medulloepithelioma of the central nervous system			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016716		
CHEBI:36735	biolink:ChemicalSubstance	biladienes	Compounds based on a biladiene skeleton.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_36735		
MONDO:0016710	biolink:Disease	medulloblastoma with extensive nodularity	Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis.	Orphanet:251858|ONCOTREE:MBEN|NCIT:C5407|UMLS:CN201957|ICDO:9471/3|UMLS:C1334970	mondo.json	medulloblastoma with extensive nodularity and advanced neuronal differentiation|nodular medulloblastoma|MBEN|medulloblastoma with extensive nodularity|cerebellar neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0016710	NCIT:C5407|Orphanet:251858|UMLS:C1334970|UMLS:CN201957	ordo_histopathological_subtype
MONDO:0016711	biolink:Disease	desmoplastic/nodular medulloblastoma	A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.	UMLS:C0751291|Orphanet:251863|ICDO:9471/3|EFO:0005699|NCIT:C4956|ONCOTREE:DMBL	mondo.json	desmoplastic/nodular medulloblastoma|desmoplastic nodular medulloblastoma|Desmoplastic medulloblastoma|desmoplastic medulloblastoma	http://purl.obolibrary.org/obo/MONDO_0016711	Orphanet:251863|NCIT:C4956|UMLS:C0751291	ordo_histopathological_subtype
MONDO:0016712	biolink:Disease	classic medulloblastoma	Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia.	NCIT:C54039|SCTID:699704002|UMLS:C1707400|Orphanet:251867	mondo.json	classic medulloblastoma	http://purl.obolibrary.org/obo/MONDO_0016712	NCIT:C54039|Orphanet:251867|http://identifiers.org/snomedct/699704002|UMLS:C1707400	ordo_histopathological_subtype
CHEBI:48706	biolink:ChemicalSubstance	antagonist	Substance that attaches to and blocks cell receptors that normally bind naturally occurring substances.		mondo.json	antagoniste|antagonists|antagonista|antagonist	http://purl.obolibrary.org/obo/CHEBI_48706		
GO:0060405	biolink:NamedThing	regulation of penile erection	Any process that modulates the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow.		mondo.json		http://purl.obolibrary.org/obo/GO_0060405		
CHEBI:48705	biolink:ChemicalSubstance	agonist	Substance which binds to cell receptors normally responding to naturally occurring substances and which produces a response of its own.		mondo.json	agoniste|agonists|agonista|agonist	http://purl.obolibrary.org/obo/CHEBI_48705		
GO:0060406	biolink:NamedThing	positive regulation of penile erection	Any process that increases the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow.		mondo.json		http://purl.obolibrary.org/obo/GO_0060406		
UBERON:0001366	biolink:AnatomicalEntity	parietal peritoneum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001366		
GO:0060407	biolink:NamedThing	negative regulation of penile erection	Any process that stops, prevents, or reduces the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow.		mondo.json		http://purl.obolibrary.org/obo/GO_0060407		
MONDO:0004739	biolink:Disease	urea cycle disorder	A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.	UMLS:C0154246|MESH:D056806|DOID:9267|NCIT:C84785|Orphanet:79167|ICD9:270.6|SCTID:36444000|GARD:0007837	mondo.json	disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia|urea cycle disorders|urea cycle metabolism disorder|inborn disorder of urea cycle metabolism and ammonia detoxification|disorder of urea cycle metabolism|urea cycle defect|disorder of urea cycle metabolism and ammonia detoxification|UCD|inborn urea cycle disorder	http://purl.obolibrary.org/obo/MONDO_0004739	Orphanet:79167|UMLS:C0154246|DOID:9267|http://identifiers.org/snomedct/36444000|NCIT:C84785|http://identifiers.org/mesh/D056806	ordo_group_of_disorders|disease_grouping
MONDO:0004738	biolink:Disease	histidine metabolism disease	A disease that has its basis in the disruption of histidine metabolic process.	SCTID:44176004|UMLS:C0268512	mondo.json	disturbance of histidine metabolism|disorder of histidine metabolic process|histidine metabolic process disease|disorder of histidine metabolism	http://purl.obolibrary.org/obo/MONDO_0004738	http://identifiers.org/snomedct/44176004|UMLS:C0268512	
UBERON:0001365	biolink:AnatomicalEntity	sacro-iliac joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001365		
MONDO:0002138	biolink:Disease	allergic contact dermatitis of eyelid	A allergic contact dermatitis that involves the eyelid.	ICD9:692.9|ICD9:373.32|DOID:1895|SCTID:402249007|UMLS:C0155178	mondo.json	eyelid allergic contact dermatitis|contact and allergic dermatitis of eyelid	http://purl.obolibrary.org/obo/MONDO_0002138	http://identifiers.org/snomedct/402249007|UMLS:C0155178|DOID:1895	
MONDO:0002139	biolink:Disease	sigmoid disease	Pathological processes in the sigmoid colon region of the large intestine (intestine, large).	DOID:1897|UMLS:C0037072|MESH:D012810	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002139	UMLS:C0037072|http://identifiers.org/mesh/D012810|DOID:1897	
MONDO:0002134	biolink:Disease	physiological sexual disorder	Physiological disturbances in normal sexual performance in either the male or the female.	MESH:D012735|UMLS:C0549622|DOID:1876	mondo.json	physiological sexual dysfunctions|physiological sexual dysfunction|Sex disorders|sexual disorders, physiological|sexual dysfunction|physiological sexual disorder|physiological sexual disorders|sexual dysfunctions, physiological|sexual disorder, physiological	http://purl.obolibrary.org/obo/MONDO_0002134	UMLS:C0549622|http://identifiers.org/mesh/D012735|DOID:1876	
MONDO:0004797	biolink:Disease	mononeuritis of lower limb	A mononeuritis simplex that involves the hindlimb.	ICD9:355|ICD9:355.8|DOID:9473	mondo.json	hindlimb mononeuritis simplex|mononeuritis simplex of hindlimb	http://purl.obolibrary.org/obo/MONDO_0004797	DOID:9473	
MONDO:0002135	biolink:Disease	optic nerve disorder	A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve).	ICD9:377.49|UMLS:C0029132|DOID:1891|Orphanet:519351|SCTID:77157004|NCIT:C79698|ICD9:377.9|MESH:D009901	mondo.json	second cranial nerve disorder|disease of cranial nerve II|disease or disorder of cranial nerve II|optic nerve disorder|cranial nerve II disease|optic neuropathy|cranial nerve II disease or disorder|disorder of cranial nerve II|disorder of the second nerve	http://purl.obolibrary.org/obo/MONDO_0002135	http://identifiers.org/mesh/D009901|UMLS:C0029132|http://identifiers.org/snomedct/77157004|DOID:1891|NCIT:C79698	
MONDO:0004796	biolink:Disease	infectious meningitis	Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures.	EFO:0000584|ICD9:322|MESH:D008581|ICD9:322.9|NCIT:C79598|HP:0001287|DOID:9471|ICD9:321.8|SCTID:312216007	mondo.json	infectious meningitis|infective meningitis|meningitis	http://purl.obolibrary.org/obo/MONDO_0004796	http://identifiers.org/mesh/D008581|http://identifiers.org/snomedct/312216007|DOID:9471|NCIT:C79598	
MONDO:0004799	biolink:Disease	ulcerative blepharitis		ICD9:373.01|SCTID:91662004|UMLS:C0155173|DOID:9483	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004799	UMLS:C0155173|DOID:9483|http://identifiers.org/snomedct/91662004	
MONDO:0002136	biolink:Disease	eczematous dermatitis of eyelid		SCTID:36259009|DOID:1893|ICD9:373.31|UMLS:C0155177	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002136	UMLS:C0155177|http://identifiers.org/snomedct/36259009|DOID:1893	
MONDO:0002137	biolink:Disease	noninfectious dermatoses of eyelid		SCTID:111524003|DOID:1894|UMLS:C0155176|ICD9:373.3	mondo.json	non-infected eyelid dermatoses	http://purl.obolibrary.org/obo/MONDO_0002137	UMLS:C0155176|DOID:1894|http://identifiers.org/snomedct/111524003	
MONDO:0004798	biolink:Disease	obsolete Sheehan syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004798		
MONDO:0004793	biolink:Disease	obsolete uterine corpus cancer			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004793		
MONDO:0002130	biolink:Disease	upper limb mononeuronitis	A disease affecting a single peripheral nerve of the upper limb.	ICD9:354.9|DOID:1844	mondo.json	mononeuritis of upper limb|mononeuritis upper limb|mononeuritis simplex of forelimb|forelimb mononeuritis simplex|mononeuritis of upper limb, unspecified	http://purl.obolibrary.org/obo/MONDO_0002130	DOID:1844	
MONDO:0004792	biolink:Disease	cancer of isthmus of fallopian tube	A cancer that involves the UBERON:0016632.	DOID:9459|ICD9:182.1	mondo.json	isthmus of fallopian tube cancer|cancer of isthmus of fallopian tube|malignant neoplasm of isthmus of fallopian tube|malignant isthmus of fallopian tube neoplasm	http://purl.obolibrary.org/obo/MONDO_0004792	DOID:9459	
MONDO:0002131	biolink:Disease	jaw cancer	A malignant neoplasm involving the jaw skeleton	MESH:D007573|DOID:1862|EFO:0007333|SCTID:126634001	mondo.json	malignant jaw skeleton neoplasm|neoplasm of jaw|cancer of jaw skeleton|jaw neoplasm|jaw skeleton cancer|malignant neoplasm of jaw skeleton	http://purl.obolibrary.org/obo/MONDO_0002131	http://identifiers.org/mesh/D007573|DOID:1862	
MONDO:0004795	biolink:Disease	otitis externa	Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain.	NCIT:C3299|MESH:D010032|ICD9:380.1|DOID:9463|ICD10CM:H60|SCTID:3135009|ICD9:380.10	mondo.json	swimmer's Ear|outer Ear infection|external Ear infection|infectious otitis externa|swimmer's ear|otitis externa	http://purl.obolibrary.org/obo/MONDO_0004795	http://identifiers.org/snomedct/3135009|http://identifiers.org/mesh/D010032|http://purl.bioontology.org/ontology/ICD10CM/H60|DOID:9463|NCIT:C3299	
MONDO:0002132	biolink:Disease	skull cancer	A malignant neoplasm involving the skull.	DOID:1863|NCIT:C3375|SCTID:126538005|UMLS:C0037305	mondo.json	cancer of skull|skull cancer|malignant neoplasm of skull|malignant skull neoplasm	http://purl.obolibrary.org/obo/MONDO_0002132	DOID:1863	
MONDO:0004794	biolink:Disease	exposure keratitis		UMLS:C0339295|SCTID:14366000|ICD9:370.34|DOID:9461	mondo.json	lagophthalmic keratitis|exposure keratoconjunctivitis	http://purl.obolibrary.org/obo/MONDO_0004794	UMLS:C0339295|DOID:9461|http://identifiers.org/snomedct/14366000	
GO:1901522	biolink:NamedThing	positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus	Any positive regulation of transcription from RNA polymerase II promoter that is involved in cellular response to chemical stimulus.		mondo.json	upregulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|positive regulation of global transcription from Pol II promoter involved in cellular response to chemical stimulus|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|upregulation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|activation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|positive regulation of transcription from Pol II promoter involved in cellular response to chemical stimulus|up regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|up-regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|activation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|up-regulation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|stimulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|stimulation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|up regulation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus	http://purl.obolibrary.org/obo/GO_1901522		
MONDO:0002133	biolink:Disease	chronic rheumatic pericarditis	Chronic form of rheumatic pericarditis.	UMLS:C0155561|ICD9:393|SCTID:78069008|DOID:1869|ICD10CM:I09.2	mondo.json	rheumatic pericarditis, chronic	http://purl.obolibrary.org/obo/MONDO_0002133	http://purl.bioontology.org/ontology/ICD10CM/I09.2|http://identifiers.org/snomedct/78069008|UMLS:C0155561|DOID:1869	
MONDO:0004791	biolink:Disease	obsolete lipid storage disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004791		
GO:0047453	biolink:NamedThing	ATP-dependent NAD(P)H-hydrate dehydratase activity	Catalysis of the reaction: (6S)-6beta-hydroxy-1,4,5,6-tetrahydronicotinamide adenine dinucleotide + ATP = ADP + 3 H(+) + NADH + phosphate.		mondo.json	(6S)-beta-6-hydroxy-1,4,5,6-tetrahydronicotinamide-adenine-dinucleotide hydro-lyase(ATP-hydrolysing; NADH-forming)|ATP-dependent H(4)NAD(P)OH dehydratase activity|reduced nicotinamide adenine dinucleotide hydrate dehydratase activity|ATP-dependent H4NAD(P)OH dehydratase activity|(6S)-beta-6-hydroxy-1,4,5,6-tetrahydronicotinamide-adenine-dinucleotide hydro-lyase (ATP-hydrolysing)	http://purl.obolibrary.org/obo/GO_0047453		
MONDO:0004790	biolink:Disease	fatty liver disease	A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis.	ICD9:571.0|SCTID:371330000|SCTID:197321007|DOID:9452|EFO:0003934|MESH:D005234|ICD9:571.8	mondo.json	steatosis of liver|fatty liver|hepatic lipidosis|fatty change of liver	http://purl.obolibrary.org/obo/MONDO_0004790	http://identifiers.org/mesh/D005234|DOID:9452|http://identifiers.org/snomedct/197321007	
MONDO:0014127	biolink:Disease	oculocutaneous albinism type 5	Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered.	SCTID:722057000|UMLS:CN204842|DOID:0070099|OMIM:615312|Orphanet:370091	mondo.json	OCA5|albinism, oculocutaneous, type V|oculocutaneous albinism type V	http://purl.obolibrary.org/obo/MONDO_0014127	http://identifiers.org/snomedct/722057000|https://omim.org/entry/615312|Orphanet:370091|DOID:0070099|UMLS:CN204842	ordo_disease
MONDO:0014126	biolink:Disease	Perrault syndrome 4	Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene.	OMIM:615300|UMLS:C3809105	mondo.json	Perrault syndrome caused by mutation in LARS2|Perrault syndrome type 4|Perrault syndrome 4|PRLTS4|LARS2 Perrault syndrome	http://purl.obolibrary.org/obo/MONDO_0014126	UMLS:C3809105|https://omim.org/entry/615300	
MONDO:0014125	biolink:Disease	symphalangism, proximal, 1B	Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene.	OMIM:615298|UMLS:C3809104	mondo.json	symphalangism, proximal, 1B|proximal symphalangism (disease) caused by mutation in GDF5|symphalangism, proximal, type 1B|SYM1B|GDF5 proximal symphalangism (disease)	http://purl.obolibrary.org/obo/MONDO_0014125	UMLS:C3809104|https://omim.org/entry/615298	
MONDO:0014124	biolink:Disease	Adams-Oliver syndrome 4	Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the EOGT gene.	UMLS:C3809092|OMIM:615297	mondo.json	AOS4|Adams-Oliver syndrome caused by mutation in EOGT|EOGT Adams-Oliver syndrome|Adams-Oliver syndrome type 4|Adams-Oliver syndrome 4	http://purl.obolibrary.org/obo/MONDO_0014124	https://omim.org/entry/615297|UMLS:C3809092	
MONDO:0016786	biolink:Disease	partial hydatidiform mole	Partial hydatiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage.	ICDO:9103/0|ONCOTREE:PHM|Orphanet:254693|NCIT:C4293|SCTID:237250000|UMLS:C0334529	mondo.json	PHM|incomplete hydatid Mole|incomplete hydatidiform mole|partial Mole|partial hydatid Mole|partial molar pregnancy|incomplete molar pregnancy	http://purl.obolibrary.org/obo/MONDO_0016786	Orphanet:254693|http://identifiers.org/snomedct/237250000|NCIT:C4293|UMLS:C0334529	ordo_clinical_subtype
MONDO:0016787	biolink:Disease	epithelioid trophoblastic tumor	An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT) which generally occurs several years after pregnancy.	Orphanet:254698|ONCOTREE:ETT|ICDO:9105/3|UMLS:C1266159|DOID:3593|SCTID:609515005|NCIT:C6900	mondo.json	ETT|epithelioid trophoblastic tumor	http://purl.obolibrary.org/obo/MONDO_0016787	UMLS:C1266159|Orphanet:254698|DOID:3593|http://identifiers.org/snomedct/609515005|NCIT:C6900	ordo_disease
MONDO:0014129	biolink:Disease	obsolete autosomal recessive limb-girdle muscular dystrophy type 2R			mondo.json		http://purl.obolibrary.org/obo/MONDO_0014129		
MONDO:0016788	biolink:Disease	obsolete genetic hyperferritinemia without iron overload	OBSOLETE. Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype.	SCTID:766929007|Orphanet:254704	mondo.json	benign hyperferritinemia	http://purl.obolibrary.org/obo/MONDO_0016788	Orphanet:254704|http://identifiers.org/snomedct/766929007	ordo_biological_anomaly
MONDO:0016789	biolink:Disease	pyruvate metabolism disorder	An inherited metabolic disease that is has its basis in the disruption of pyruvate metabolic process.	UMLS:CN226999|Orphanet:254746	mondo.json	inborn pyruvate metabolic process disorder|inborn error of pyruvate metabolic process|rare inborn error of pyruvate metabolic process	http://purl.obolibrary.org/obo/MONDO_0016789	UMLS:CN226999|Orphanet:254746	disease_grouping|ordo_group_of_disorders
MONDO:0014128	biolink:Disease	TCF12-related craniosynostosis	Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene.	UMLS:C3715051|OMIM:615314	mondo.json	CRS3|craniosynostosis 3|TCF12-related craniosynostosis|TCF12 craniosynostosis|craniosynostosis caused by mutation in TCF12|craniosynostosis type 3	http://purl.obolibrary.org/obo/MONDO_0014128	https://omim.org/entry/615314|UMLS:C3715051	
MONDO:0016782	biolink:Disease	paternal 14q32.2 hypomethylation syndrome		Orphanet:254531|UMLS:CN202038	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016782	Orphanet:254531|UMLS:CN202038	ordo_etiological_subtype
MONDO:0016783	biolink:Disease	maternal 14q32.2 hypermethylation syndrome		UMLS:CN202039|Orphanet:254534	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016783	Orphanet:254534|UMLS:CN202039	ordo_etiological_subtype
MONDO:0016784	biolink:Disease	gestational trophoblastic disease		ONCOTREE:GTD|ICD9:631|Orphanet:254685|MESH:D031901|SCTID:416402001	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016784	http://identifiers.org/snomedct/416402001|Orphanet:254685|http://identifiers.org/mesh/D031901	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0016785	biolink:Disease	complete hydatidiform mole	Complete hydatidiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma.	NCIT:C4871|ONCOTREE:CHM|SCTID:237249000|UMLS:C0678213|Orphanet:254688	mondo.json	complete Mole|complete hydatid Mole|complete molar pregnancy|classical hydatidiform Mole	http://purl.obolibrary.org/obo/MONDO_0016785	http://identifiers.org/snomedct/237249000|Orphanet:254688|UMLS:C0678213|NCIT:C4871	ordo_clinical_subtype
MONDO:0014123	biolink:Disease	primary ciliary dyskinesia 21	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene.	DOID:0110596|UMLS:C3809087|OMIM:615294	mondo.json	CILD21|ciliary dyskinesia, primary, type 21|DRC1 primary ciliary dyskinesia|ciliary dyskinesia, primary, 21|primary ciliary dyskinesia 21 without situs inversus|primary ciliary dyskinesia type 21|primary ciliary dyskinesia caused by mutation in DRC1|ciliary dyskinesia, primary, 21, without situs inversus	http://purl.obolibrary.org/obo/MONDO_0014123	UMLS:C3809087|https://omim.org/entry/615294|DOID:0110596	
MONDO:0014122	biolink:Disease	myofibromatosis, infantile, 2	Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene.	UMLS:C3809084|OMIM:615293	mondo.json	myofibromatosis caused by mutation in NOTCH3|myofibromatosis, infantile, type 2|myofibromatosis, infantile, 2|NOTCH3 myofibromatosis|IMF2|myofibromatosis, infantile 2	http://purl.obolibrary.org/obo/MONDO_0014122	https://omim.org/entry/615293|UMLS:C3809084	
MONDO:0014121	biolink:Disease	autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures		UMLS:C3809049|OMIM:615290|GARD:0013222|Orphanet:363454	mondo.json	spinal muscular atrophy, LOWER extremity-predominant, 2, autosomal dominant|autosomal dominant spinal muscular atrophy, lower extremity-predominant 2|spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant|SMALED2|Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures|spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0014121	https://omim.org/entry/615290|Orphanet:363454	ordo_clinical_subtype
MONDO:0016780	biolink:Disease	paternal 14q32.2 microdeletion syndrome		UMLS:CN202036|Orphanet:254525	mondo.json	paternal monosomy 14q32.2|paternal del(14)(q32.2)	http://purl.obolibrary.org/obo/MONDO_0016780	Orphanet:254525|UMLS:CN202036	ordo_etiological_subtype
MONDO:0014120	biolink:Disease	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13		UMLS:C3809042|DOID:0111238|Orphanet:899|OMIM:615287	mondo.json	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13|MDDGA13|Walker-Warburg syndrome or muscle-eye-brain disease, B3Gnt1-related	http://purl.obolibrary.org/obo/MONDO_0014120	DOID:0111238|https://omim.org/entry/615287|UMLS:C3809042	
MONDO:0016781	biolink:Disease	maternal 14q32.2 microdeletion syndrome		Orphanet:254528|UMLS:CN202037	mondo.json	maternal del(14)(q32.2)|maternal monosomy 14q32.2	http://purl.obolibrary.org/obo/MONDO_0016781	Orphanet:254528|UMLS:CN202037	ordo_etiological_subtype
MONDO:0002149	biolink:Disease	reproductive system cancer	A malignant neoplasm involving the reproductive organ	DOID:193|NCIT:C36076|UMLS:C1334618	mondo.json	cancer of reproductive system|malignant reproductive organ neoplasm|cancer of reproductive organ|reproductive system cancer|malignant reproductive system neoplasm|malignant neoplasm of reproductive system|reproductive tumor|reproductive organ cancer|malignant neoplasm of reproductive organ	http://purl.obolibrary.org/obo/MONDO_0002149	DOID:193|NCIT:C36076|UMLS:C1334618	
SO:0000110	biolink:SequenceFeature	sequence_feature	Any extent of continuous biological sequence.		mondo.json	INSDC_note:other|INSDC_feature:misc_feature|sequence feature|located_sequence_feature|located sequence feature|INSDC_note:sequence_feature	http://purl.obolibrary.org/obo/SO_0000110		
MONDO:0002145	biolink:Disease	disorder of sexual differentiation	A congenital disorder characterized by abnormalities in the development of the sexual characteristics.	Orphanet:90771|GTR:AN1172969|SCTID:39179006|NCIT:C103186|UMLS:CN757797|MedDRA:10070597|DOID:1923|MESH:D012734	mondo.json	disorder of sex differentiation|differences of sex development|conditions affecting reproductive development|disorders of sex development (DSD)|sexual differentiation disorder|sex differentiation disease|intersex conditions|DSD|sex differentiation disorder|intersex|disorder of sex development|disorder of sexual differentiation|disorders of sex development|CARD	http://purl.obolibrary.org/obo/MONDO_0002145	http://identifiers.org/snomedct/39179006|NCIT:C103186|Orphanet:90771|http://identifiers.org/mesh/D012734|DOID:1923|UMLS:CN757797	disease_grouping|ordo_group_of_disorders
MONDO:0002146	biolink:Disease	hypogonadism	A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation.	SCTID:48130008|ICD9:253.4|NCIT:C9227|MESH:D007006|DOID:1924|UMLS:C0020619	mondo.json	gonadotropin deficiency|hypogonadotropism	http://purl.obolibrary.org/obo/MONDO_0002146	NCIT:C9227|http://identifiers.org/snomedct/48130008|http://identifiers.org/mesh/D007006|DOID:1924|UMLS:C0020619	
CHEBI:24734	biolink:ChemicalSubstance	hydroxyphenylalanine			mondo.json		http://purl.obolibrary.org/obo/CHEBI_24734		
MONDO:0002147	biolink:Disease	obsolete Coffin-Siris syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002147		
MONDO:0002148	biolink:Disease	obsolete sphingolipidosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002148		
GO:1901534	biolink:NamedThing	positive regulation of hematopoietic progenitor cell differentiation	Any process that activates or increases the frequency, rate or extent of hematopoietic progenitor cell differentiation.		mondo.json	up regulation of hemopoietic progenitor cell differentiation|activation of hemopoietic progenitor cell differentiation|up regulation of hematopoietic progenitor cell differentiation|positive regulation of hemopoietic progenitor cell differentiation|up-regulation of haemopoietic progenitor cell differentiation|activation of haematopoietic progenitor cell differentiation|upregulation of haematopoietic progenitor cell differentiation|upregulation of hemopoietic progenitor cell differentiation|upregulation of hematopoietic progenitor cell differentiation|activation of hematopoietic progenitor cell differentiation|activation of haemopoietic progenitor cell differentiation|upregulation of haemopoietic progenitor cell differentiation|positive regulation of haematopoietic progenitor cell differentiation|up regulation of haematopoietic progenitor cell differentiation|positive regulation of haemopoietic progenitor cell differentiation|up-regulation of hemopoietic progenitor cell differentiation|up-regulation of hematopoietic progenitor cell differentiation|up regulation of haemopoietic progenitor cell differentiation|up-regulation of haematopoietic progenitor cell differentiation	http://purl.obolibrary.org/obo/GO_1901534		
MONDO:0002141	biolink:Disease	cutaneous undifferentiated pleomorphic sarcoma	An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm.	SCTID:404014008|DOID:1906|NCIT:C5576|EFO:1000212|ICD9:171.9|UMLS:C1275254	mondo.json	cutaneous unclassified pleomorphic sarcoma|malignant skin fibrous histiocytoma|cutaneous undifferentiated pleomorphic sarcoma|cutaneous unclassified pleomorphic sarcoma (formerly cutaneous "MFH")|cutaneous unclassified pleomorphic sarcoma (formerly cutaneous "malignant fibrous histiocytoma")|zone of skin undifferentiated pleomorphic sarcoma|cutaneous malignant fibrous histiocytoma|malignant cutaneous fibrous histiocytoma|undifferentiated pleomorphic sarcoma of zone of skin|malignant fibrous histiocytoma of skin|malignant fibrous histiocytoma of the skin|cutaneous unclassified pleomorphic sarcoma (formerly cutaneous)	http://purl.obolibrary.org/obo/MONDO_0002141	http://identifiers.org/snomedct/404014008|UMLS:C1275254|NCIT:C5576|DOID:1906	
MONDO:0002142	biolink:Disease	undifferentiated pleomorphic sarcoma	An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma.	ICD9:171.9|ICDO:8830/3|DOID:1907|GARD:0006963|MedDRA:10025552|Orphanet:2023|MESH:D051677|SCTID:443439001|HGNC:16982|ONCOTREE:MFH|NCIT:C4247|EFO:1001972|NCIT:C114541	mondo.json	Storiform-pleomorphic MFH|undifferentiated pleomorphic soft tissue sarcoma|adult unclassified pleomorphic sarcoma|MFH|malignant fibroxanthoma|adult undifferentiated pleomorphic sarcoma|fibrous histiocytoma, malignant (morphologic abnormality)|Unclassified Pleomorphic sarcoma (formerly "MFH")|malignant fibrohistiocytic tumors|histiocytoma, fibrous, malignant|malignant fibrous histiocytoma|Unclassified Pleomorphic sarcoma (formerly "malignant fibrous histiocytoma")|UPS|undifferentiated pleomorphic sarcoma/malignant fibrous histiocytoma/high-grade spindle cell sarcoma|malignant fibrous histiocytoma of soft tissue and bone|fibrous histiocytoma, malignant|fibroxanthosarcoma|malignant fibrous histiocytoma of the soft tissue and bone|adult malignant fibrous histiocytoma|fibroxanthosarcoma (morphologic abnormality)|malignant fibrous cytoma|Storiform-pleomorphic malignant fibrous histiocytoma|unclassified pleomorphic sarcoma|undifferentiated pleomorphic sarcoma|Storiform-pleomorphic fibrous histiocytoma	http://purl.obolibrary.org/obo/MONDO_0002142	NCIT:C114541|http://identifiers.org/mesh/D051677|NCIT:C4247|DOID:1907|http://identifiers.org/snomedct/443439001|Orphanet:2023	ordo_disease|gard_rare
MONDO:0002143	biolink:Disease	vaginal yolk sac tumor	A rare yolk sac tumor that arises from the vagina. Patients present with abnormal vaginal bleeding or bloody discharge.	ONCOTREE:VYST|UMLS:C1336945|DOID:1910|NCIT:C6379	mondo.json	yolk sac tumor|vaginal endodermal sinus neoplasm|vaginal endodermal sinus tumor|vaginal yolk Sac neoplasm|vaginal yolk Sac tumor	http://purl.obolibrary.org/obo/MONDO_0002143	NCIT:C6379|DOID:1910|UMLS:C1336945	
GO:1901532	biolink:NamedThing	regulation of hematopoietic progenitor cell differentiation	Any process that modulates the frequency, rate or extent of hematopoietic progenitor cell differentiation.		mondo.json	regulation of haematopoietic progenitor cell differentiation|regulation of haemopoietic progenitor cell differentiation|regulation of hemopoietic progenitor cell differentiation	http://purl.obolibrary.org/obo/GO_1901532		
MONDO:0002144	biolink:Disease	obsolete hyperuricemia		ICD9:790.6|EFO:0009104|MESH:D033461|DOID:1920|SCTID:35885006|UMLS:C0740394	mondo.json	uricacidemia|hyperuricemia|blood urate raized|obsolete hyperuricemia (disease)	http://purl.obolibrary.org/obo/MONDO_0002144	UMLS:C0740394|http://identifiers.org/snomedct/35885006|DOID:1920|http://identifiers.org/mesh/D033461	
GO:1901533	biolink:NamedThing	negative regulation of hematopoietic progenitor cell differentiation	Any process that stops, prevents or reduces the frequency, rate or extent of hematopoietic progenitor cell differentiation.		mondo.json	downregulation of haemopoietic progenitor cell differentiation|down regulation of haematopoietic progenitor cell differentiation|inhibition of hematopoietic progenitor cell differentiation|down regulation of haemopoietic progenitor cell differentiation|down-regulation of hemopoietic progenitor cell differentiation|negative regulation of hemopoietic progenitor cell differentiation|negative regulation of haematopoietic progenitor cell differentiation|down-regulation of haematopoietic progenitor cell differentiation|down-regulation of hematopoietic progenitor cell differentiation|down regulation of hemopoietic progenitor cell differentiation|down-regulation of haemopoietic progenitor cell differentiation|negative regulation of haemopoietic progenitor cell differentiation|inhibition of haematopoietic progenitor cell differentiation|down regulation of hematopoietic progenitor cell differentiation|inhibition of hemopoietic progenitor cell differentiation|downregulation of hemopoietic progenitor cell differentiation|inhibition of haemopoietic progenitor cell differentiation|downregulation of haematopoietic progenitor cell differentiation|downregulation of hematopoietic progenitor cell differentiation	http://purl.obolibrary.org/obo/GO_1901533		
MONDO:0002140	biolink:Disease	vagina sarcoma	A malignant mesenchymal neoplasm that arises from the vagina. Representative examples include botryoid-type embryonal rhabdomyosarcoma, leiomyosarcoma, and endometrioid stromal sarcoma.	DOID:1901|UMLS:C0238519|NCIT:C7737	mondo.json	sarcoma of the vagina|sarcoma of vagina|vaginal sarcoma|vagina sarcoma	http://purl.obolibrary.org/obo/MONDO_0002140	NCIT:C7737|DOID:1901|UMLS:C0238519	
MONDO:0014116	biolink:Disease	complex cortical dysplasia with other brain malformations 2	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene.	DOID:0090133|UMLS:C3809013|OMIM:615282	mondo.json	complex cortical dysplasia with other brain malformations type 2|KIF5C complex cortical dysplasia with other brain malformations|CDCBM2|cortical dysplasia, complex, with other brain malformations 2|complex cortical dysplasia with other brain malformations caused by mutation in KIF5C|cortical dysplasia, Complex, with Other brain malformations type 2	http://purl.obolibrary.org/obo/MONDO_0014116	https://omim.org/entry/615282|UMLS:C3809013|DOID:0090133	
MONDO:0016779	biolink:Disease	multiple congenital anomalies due to 14q32.2 maternally expressed gene defect	Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma.	DOID:0111712|Orphanet:254519	mondo.json	MCA due to 14q32.2 maternally expressed gene defect	http://purl.obolibrary.org/obo/MONDO_0016779	Orphanet:254519|DOID:0111712	ordo_malformation_syndrome
MONDO:0014115	biolink:Disease	hypomyelination with brain stem and spinal cord involvement and leg spasticity		OMIM:615281|UMLS:C3809008|Orphanet:363412	mondo.json	HBSL|hypomyelination with brainstem and spinal cord involvement and leg spasticity|aspartyl-tRNA synthetase deficiency	http://purl.obolibrary.org/obo/MONDO_0014115	Orphanet:363412|UMLS:C3809008|https://omim.org/entry/615281	ordo_disease
MONDO:0014114	biolink:Disease	cardiofaciocutaneous syndrome 4	Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene.	OMIM:615280|UMLS:C3809007|DOID:0111463	mondo.json	cardiofaciocutaneous syndrome caused by mutation in MAP2K2|CFC4|MAP2K2 cardiofaciocutaneous syndrome|cardiofaciocutaneous syndrome 4|cardiofaciocutaneous syndrome type 4	http://purl.obolibrary.org/obo/MONDO_0014114	DOID:0111463|https://omim.org/entry/615280|UMLS:C3809007	
MONDO:0014113	biolink:Disease	cardiofaciocutaneous syndrome 3	Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene.	OMIM:615279|DOID:0111462|UMLS:C3809006	mondo.json	cardiofaciocutaneous syndrome caused by mutation in MAP2K1|cardiofaciocutaneous syndrome 3|cardiofaciocutaneous syndrome type 3|MAP2K1 cardiofaciocutaneous syndrome|CFC3	http://purl.obolibrary.org/obo/MONDO_0014113	DOID:0111462|UMLS:C3809006|https://omim.org/entry/615279	
MONDO:0016775	biolink:Disease	lichen planus pemphigoides	Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid.	Orphanet:254478|GARD:0012677|UMLS:C0406369|SCTID:238653005	mondo.json	LP pemphigoides	http://purl.obolibrary.org/obo/MONDO_0016775	UMLS:C0406369|Orphanet:254478|http://identifiers.org/snomedct/238653005	ordo_disease|gard_rare
MONDO:0016776	biolink:Disease	frontal fibrosing alopecia	Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris characterized by symmetrical, progressive, band-like anterior hair loss of the scalp.	UMLS:C4255374|GARD:0010886|SCTID:717055000|ICD10CM:L66.1|Orphanet:254492	mondo.json	FFA	http://purl.obolibrary.org/obo/MONDO_0016776	UMLS:C4255374|Orphanet:254492|http://identifiers.org/snomedct/717055000	gard_rare|ordo_disease
MONDO:0014119	biolink:Disease	intellectual disability-strabismus syndrome		Orphanet:363528|UMLS:C3809039|OMIM:615286	mondo.json	mental retardation, autosomal recessive type 36|mental retardation, autosomal recessive 36|MRT36|intellectual disability, autosomal recessive type 36|neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies|intellectual disability, autosomal recessive 36	http://purl.obolibrary.org/obo/MONDO_0014119	Orphanet:363528|https://omim.org/entry/615286|UMLS:C3809039	ordo_disease
MONDO:0016777	biolink:Disease	inhalational botulism	Inhalational botulism is a man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs).	SCTID:409562009|UMLS:C1443900|Orphanet:254504	mondo.json	inhalation botulism	http://purl.obolibrary.org/obo/MONDO_0016777	Orphanet:254504|http://identifiers.org/snomedct/409562009|UMLS:C1443900	ordo_clinical_subtype
MONDO:0014118	biolink:Disease	congenital neutropenia-myelofibrosis-nephromegaly syndrome		UMLS:C3809031|Orphanet:369852|OMIM:615285	mondo.json	SCN5|neutropenia, severe congenital, 5, autosomal recessive|vps45 deficiency|congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome	http://purl.obolibrary.org/obo/MONDO_0014118	UMLS:C3809031|https://omim.org/entry/615285|Orphanet:369852	ordo_disease
MONDO:0016778	biolink:Disease	iatrogenic botulism	Iatrogenic botulism is the most recent man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use.	NCIT:C128345|UMLS:C4288922|Orphanet:254509	mondo.json	inadvertent botulism|accidental botulism	http://purl.obolibrary.org/obo/MONDO_0016778	Orphanet:254509|NCIT:C128345|UMLS:C4288922	ordo_clinical_subtype
MONDO:0014117	biolink:Disease	Charcot-Marie-Tooth disease type 4B3	Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).	DOID:0110194|Orphanet:363981|UMLS:C3695063|OMIM:615284|SCTID:763345008	mondo.json	Charcot-Marie-Tooth disease, type 4B3|CMT4B3|SBF1 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4 caused by mutation in SBF1|Charcot-Marie-Tooth disease with focally folded myelin	http://purl.obolibrary.org/obo/MONDO_0014117	Orphanet:363981|DOID:0110194|https://omim.org/entry/615284|http://identifiers.org/snomedct/763345008|UMLS:C3695063	ordo_disease
MONDO:0016771	biolink:Disease	annular atrophic lichen planus	Annular atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion.	Orphanet:254411|GARD:0012676|SCTID:720493003|UMLS:C4304037	mondo.json	annular atrophic LP	http://purl.obolibrary.org/obo/MONDO_0016771	Orphanet:254411|http://identifiers.org/snomedct/720493003|UMLS:C4304037	gard_rare|ordo_disease
MONDO:0016772	biolink:Disease	annular lichen planus	Annular lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of annular lesions.	Orphanet:254424|GARD:0012674|UMLS:C0406363|SCTID:201000006	mondo.json	annular LP	http://purl.obolibrary.org/obo/MONDO_0016772	Orphanet:254424|http://identifiers.org/snomedct/201000006|UMLS:C0406363	gard_rare|ordo_disease
GO:0060429	biolink:NamedThing	epithelium development	The process whose specific outcome is the progression of an epithelium over time, from its formation to the mature structure. An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure.		mondo.json		http://purl.obolibrary.org/obo/GO_0060429		
MONDO:0016773	biolink:Disease	atrophic lichen planus	Atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center.	GARD:0012675|UMLS:C0023647|MedDRA:10056959|NCIT:C34777|Orphanet:254449|SCTID:25858008	mondo.json	atrophic LP	http://purl.obolibrary.org/obo/MONDO_0016773	NCIT:C34777|Orphanet:254449|UMLS:C0023647|http://identifiers.org/snomedct/25858008	gard_rare|ordo_disease
OIO:hasBroadSynonym	biolink:NamedThing	has_broad_synonym			mondo.json		http://www.geneontology.org/formats/oboInOwl#hasBroadSynonym		
MONDO:0016774	biolink:Disease	lichen planus pigmentosus	Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body.	SCTID:717061002|Orphanet:254463|UMLS:C0406366|GARD:0010816	mondo.json	LP pigmentosus|LP pigmentosa|lichen planus pigmentosus inversus|lichen planus pigmentosa	http://purl.obolibrary.org/obo/MONDO_0016774	Orphanet:254463|http://identifiers.org/snomedct/717061002|UMLS:C0406366	gard_rare|ordo_disease
MONDO:0014112	biolink:Disease	cardiofaciocutaneous syndrome 2	Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene.	DOID:0111461|OMIM:615278|UMLS:C3809005	mondo.json	cardiofaciocutaneous syndrome 2|cardiofaciocutaneous syndrome type 2|cardiofaciocutaneous syndrome caused by mutation in kras|cardiofaciocutaneous syndrome caused by mutation in KRAS|KRAS cardiofaciocutaneous syndrome|kras cardiofaciocutaneous syndrome|CFC2	http://purl.obolibrary.org/obo/MONDO_0014112	DOID:0111461|https://omim.org/entry/615278|UMLS:C3809005	
MONDO:0014111	biolink:Disease	cataract 19 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LIM2 gene.	Orphanet:98984|OMIM:615277|DOID:0110263|UMLS:C3809004	mondo.json	CTRCT19|cataract type 19|LIM2 early-onset non-syndromic cataract|cataract 19, multiple types|early-onset non-syndromic cataract caused by mutation in LIM2|cataract 19	http://purl.obolibrary.org/obo/MONDO_0014111	UMLS:C3809004|DOID:0110263|https://omim.org/entry/615277	
MONDO:0014110	biolink:Disease	cataract 15 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MIP gene.	OMIM:615274|Orphanet:98989|Orphanet:98985|Orphanet:98995|Orphanet:98991|UMLS:C3809001|DOID:0110251|Orphanet:98994	mondo.json	cataract 15, multiple types|early-onset non-syndromic cataract caused by mutation in MIP|MIP early-onset non-syndromic cataract|CTRCT15	http://purl.obolibrary.org/obo/MONDO_0014110	https://omim.org/entry/615274|DOID:0110251|UMLS:C3809001	
MONDO:0016770	biolink:Disease	actinic lichen planus	Actinic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions.	SCTID:200999007|GARD:0012673|UMLS:C0406365|Orphanet:254395	mondo.json	summertime actinic lichenoid eruption|lichen planus tropicus|lichenoid melanodermatitis|actinic LP|lichen planus subtropicus|lichen planus actinus	http://purl.obolibrary.org/obo/MONDO_0016770	Orphanet:254395|UMLS:C0406365|http://identifiers.org/snomedct/200999007	ordo_disease|gard_rare
MONDO:0004779	biolink:Disease	epididymitis	Inflammation of the epididymis. Its clinical features include enlarged epididymis, a swollen scrotum; pain; pyuria; and fever. It is usually related to infections in the urinary tract, which likely spread to the epididymis through either the vas deferens or the lymphatics of the spermatic cord.	MESH:D004823|HP:0000031|ICD10CM:N45.1|UMLS:C0014534|SCTID:31070006|DOID:9402|NCIT:C12328	mondo.json	epididymal|epididymitis|epididymitis (disease)|epididymis	http://purl.obolibrary.org/obo/MONDO_0004779	NCIT:C12328|http://identifiers.org/mesh/D004823|UMLS:C0014534|http://identifiers.org/snomedct/31070006|http://purl.bioontology.org/ontology/ICD10CM/N45.1|DOID:9402	
MONDO:0002116	biolink:Disease	malignant exocrine pancreas neoplasm	A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue.	SCTID:255088001|UMLS:C0346648|DOID:1795|NCIT:C7430	mondo.json	cancer of exocrine pancreas|malignant neoplasm of exocrine pancreas|tumor of exocrine pancreas|malignant neoplasm of the exocrine pancreas|malignant exocrine pancreas neoplasm|malignant exocrine pancreas tumor|pancreatic exocrine tumor|malignant tumor of the exocrine pancreas|exocrine pancreas cancer|malignant tumor of exocrine pancreas	http://purl.obolibrary.org/obo/MONDO_0002116	UMLS:C0346648|http://identifiers.org/snomedct/255088001|NCIT:C7430|DOID:1795	
NCBITaxon:153136	biolink:OrganismalEntity	Deltaretrovirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_153136		
MONDO:0002117	biolink:Disease	pancreas sarcoma	A rare malignant soft tissue neoplasm that occurs primarily in the pancreas.	DOID:1796|NCIT:C5715|UMLS:C1096346	mondo.json	sarcoma of pancreas|pancreas sarcoma|pancreatic sarcoma|sarcoma of the pancreas	http://purl.obolibrary.org/obo/MONDO_0002117	DOID:1796|NCIT:C5715|UMLS:C1096346	
MONDO:0004778	biolink:Disease	epididymo-orchitis	A disorder involving inflammation of the epididymis and testes.	ICD10CM:N45.3|ICD9:604|ICD9:604.90|UMLS:C0149881|SCTID:197983000|DOID:9401	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004778	UMLS:C0149881|http://identifiers.org/snomedct/197983000|http://purl.bioontology.org/ontology/ICD10CM/N45.3|DOID:9401	
NCBITaxon:33154	biolink:OrganismalEntity	Opisthokonta		GC_ID:1	mondo.json	opisthokonts|Fungi/Metazoa group	http://purl.obolibrary.org/obo/NCBITaxon_33154		
MONDO:0002118	biolink:Disease	urinary system disorder	A disease involving the renal system.	DOID:18|UMLS:C1335051|ICD9:V47.4|NCIT:C3430|MESH:D014570|SCTID:128606002	mondo.json	urinary disease|urological disorder|renal system disease|urologic disease|urinary system disorder|diseases, urologic|disease, urological|urinary system disease|urological disorders|urological disease|diseases, urological|disorder of the urinary system|renal system disease or disorder|urinary tract disorder|disorder of renal system|urological diseases|diseases, urinary tract|urologic disorder|disorder of urinary system|non-neoplastic urinary tract disease|urinary tract diseases|disease, urologic|disease of renal system|disease or disorder of renal system|urinary tract disease|disease, urinary tract	http://purl.obolibrary.org/obo/MONDO_0002118	UMLS:C1335051|DOID:18|NCIT:C3430|http://identifiers.org/mesh/D014570|http://identifiers.org/snomedct/128606002	
MONDO:0002119	biolink:Disease	ossifying fibroma	A well circumscribed lesion of the bone, most frequently arising from the posterior mandible. It is characterized by the presence of fibrous tissue and a mineralized component which may be woven bone, lamellar bone, or cementum-like material. Complete removal is recommended, since it continues to enlarge if left untreated.	ICDO:9274/0|UMLS:C0206640|ICDO:9262/0|GARD:0012792|MESH:D018214|NCIT:C8422|HP:0030426|DOID:180|EFO:0007412	mondo.json	peripheral ossifying fibroma|fibroma, ossifying, benign|cemento-ossifying fibroma|Cementifying fibroma|juvenile ossifying fibroma|ossifying fibroma|ossifying fibroma (disease)|fibro-osteoma	http://purl.obolibrary.org/obo/MONDO_0002119	DOID:180|NCIT:C8422|UMLS:C0206640|http://identifiers.org/mesh/D018214	
MONDO:0028743	biolink:Disease	obsolete dysostosis with brachydactyly with extraskeletal manifestations			mondo.json		http://purl.obolibrary.org/obo/MONDO_0028743		disease_grouping|ordo_group_of_disorders
MONDO:0004775	biolink:Disease	lens-induced iridocyclitis		ICD9:364.23|SCTID:70461003|DOID:9388|UMLS:C0339320	mondo.json	lens-induced iridocyclitis	http://purl.obolibrary.org/obo/MONDO_0004775	UMLS:C0339320|http://identifiers.org/snomedct/70461003|DOID:9388	
MONDO:0002112	biolink:Disease	benign peritoneal mesothelioma	A rare, benign neoplasm that arises from the peritoneum and is characterized by the presence of gland like structures. Cytologic atypia is absent.	DOID:1789|NCIT:C7354	mondo.json	peritoneal adenomatoid tumor|peritoneum benign mesothelioma|mesothelioma of peritoneum	http://purl.obolibrary.org/obo/MONDO_0002112	NCIT:C7354|DOID:1789	
MONDO:0002113	biolink:Disease	peritoneal carcinoma	A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement.	SCTID:447781009|DOID:1791|NCIT:C40022	mondo.json	primary peritoneal carcinoma|carcinoma of peritoneum|peritoneum carcinoma	http://purl.obolibrary.org/obo/MONDO_0002113	DOID:1791|http://identifiers.org/snomedct/447781009	
MONDO:0004774	biolink:Disease	gonococcal iridocyclitis	An iridocyclitis (disease) caused by infection with Neisseria gonorrhoeae.	DOID:9384|SCTID:9091006|UMLS:C0153212|ICD9:098.41|ICD10CM:A54.32	mondo.json	Neisseria gonorrhoeae iridocyclitis (disease)|Neisseria gonorrhoeae caused iridocyclitis (disease)	http://purl.obolibrary.org/obo/MONDO_0004774	http://identifiers.org/snomedct/9091006|DOID:9384|UMLS:C0153212|http://purl.bioontology.org/ontology/ICD10CM/A54.32	
MONDO:0004777	biolink:Disease	acute laryngitis	An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness.	DOID:9396|ICD9:464.01|SCTID:6655004|ICD10CM:J04.0|NCIT:C26688|ICD9:464.00|UMLS:C0001327|ICD9:464.0	mondo.json	laryngitis, acute|laryngitis	http://purl.obolibrary.org/obo/MONDO_0004777	http://identifiers.org/snomedct/6655004|UMLS:C0001327|http://purl.bioontology.org/ontology/ICD10CM/J04.0|DOID:9396|NCIT:C26688	
MONDO:0002114	biolink:Disease	pancreas lymphoma	A lymphoma that arises from the pancreas with the bulk of the tumor localized to this organ. The vast majority of cases are non-Hodgkin lymphomas of B-cell phenotype and include mucosa-associated lymphoid tissue lymphomas, follicular lymphomas, and diffuse large B-cell lymphomas.	DOID:1792|UMLS:C1335307|NCIT:C5714	mondo.json	pancreas lymphoma|lymphoma of the pancreas|lymphoma of pancreas|pancreatic lymphoma	http://purl.obolibrary.org/obo/MONDO_0002114	DOID:1792|UMLS:C1335307|NCIT:C5714	
MONDO:0004776	biolink:Disease	obsolete infectious anterior uveitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004776		
MONDO:0002115	biolink:Disease	obsolete pancreatic cancer			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002115		
MONDO:0004771	biolink:Disease	obsolete Fuchs' heterochromic uveitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004771		
MONDO:0004770	biolink:Disease	exophthalmos	The anterior displacement of the eye within the orbit, giving a bulging appearance.	DOID:9370|MESH:D005094|HP:0000520|SCTID:18265008|UMLS:C0015300|ICD9:376.30|NCIT:C118763	mondo.json	proptosis|exophthalmos|exophthalmos (disease)	http://purl.obolibrary.org/obo/MONDO_0004770	http://identifiers.org/snomedct/18265008|NCIT:C118763|http://identifiers.org/mesh/D005094|DOID:9370|UMLS:C0015300	
MONDO:0002110	biolink:Disease	adrenal rest tumor	A benign, testicular or ovarian tumor, derived from adrenal embryonic rest cells. It is composed of hyperplastic adrenal cortical tissue, and it is associated with congenital adrenal hyperplasia.	EFO:1000798|DOID:1786|MESH:D000314|NCIT:C2860|UMLS:C0001630|ICDO:8671/0	mondo.json	adrenal rest neoplasm|adrenal rest tumor	http://purl.obolibrary.org/obo/MONDO_0002110	NCIT:C2860|http://identifiers.org/mesh/D000314|UMLS:C0001630|DOID:1786	
MONDO:0004773	biolink:Disease	iridocyclitis	An inflammation of the iris and the ciliary body	DOID:9383|ICD9:364.2|HP:0001094|ICD9:364.01|MESH:D015863|ICD9:364.3|UMLS:C0022073|SCTID:77971008|NCIT:C34736	mondo.json	primary iridocyclitis|iridocyclitis|iridocyclitis (disease)	http://purl.obolibrary.org/obo/MONDO_0004773	http://identifiers.org/mesh/D015863|http://identifiers.org/snomedct/77971008|NCIT:C34736|UMLS:C0022073|DOID:9383	
MONDO:0004772	biolink:Disease	glaucomatocyclitic crisis		ICD9:364.22|UMLS:C0152138|DOID:9378|SCTID:29538005	mondo.json	Posner-Schlossman syndrome|Terrien-Viel syndrome	http://purl.obolibrary.org/obo/MONDO_0004772	http://identifiers.org/snomedct/29538005|DOID:9378|UMLS:C0152138	
MONDO:0002111	biolink:Disease	obsolete peritoneal mesothelioma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002111		
MONDO:0028742	biolink:Disease	obsolete dysostosis with brachydactyly without extraskeletal manifestations			mondo.json		http://purl.obolibrary.org/obo/MONDO_0028742		disease_grouping|ordo_group_of_disorders
MONDO:0028741	biolink:Disease	obsolete overgrowth or tall stature syndrome with skeletal involvement			mondo.json		http://purl.obolibrary.org/obo/MONDO_0028741		disease_grouping|ordo_group_of_disorders
UBERON:0013399	biolink:AnatomicalEntity	blood vessel layer of choroid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013399		
MONDO:0014105	biolink:Disease	hypogonadotropic hypogonadism 19 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the DUSP6 gene.	DOID:0090090|UMLS:C3808981|ICD10CM:E23.0|OMIM:615269	mondo.json	DUSP6 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 19 with or without anosmia|HH19|hypogonadotropic hypogonadism caused by mutation in DUSP6	http://purl.obolibrary.org/obo/MONDO_0014105	DOID:0090090|https://omim.org/entry/615269|UMLS:C3808981	
MONDO:0016768	biolink:Disease	obsolete rare mucosal lichen planus		UMLS:CN226996|Orphanet:254373|ICD10CM:L43.1	mondo.json	rare mucosal LP	http://purl.obolibrary.org/obo/MONDO_0016768	UMLS:CN226996|Orphanet:254373	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
GO:0060452	biolink:NamedThing	positive regulation of cardiac muscle contraction	Any process that increases the frequency, rate or extent of cardiac muscle contraction.		mondo.json		http://purl.obolibrary.org/obo/GO_0060452		
MONDO:0016769	biolink:Disease	linear lichen planus	Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development.	SCTID:44509000|UMLS:C0023650|GARD:0011898|Orphanet:254379	mondo.json	Blaschkoid lichen planus|llp|Blaschkoid LP|linear LP	http://purl.obolibrary.org/obo/MONDO_0016769	Orphanet:254379|http://identifiers.org/snomedct/44509000|UMLS:C0023650	ordo_disease|gard_rare
MONDO:0014104	biolink:Disease	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene.	OMIM:615268|UMLS:C3808977	mondo.json	cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4|ATP8A2 dysequilibrium syndrome|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 4|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 4|cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4|CAMRQ4|cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4|dysequilibrium syndrome caused by mutation in ATP8A2	http://purl.obolibrary.org/obo/MONDO_0014104	https://omim.org/entry/615268|UMLS:C3808977	
GO:0060453	biolink:NamedThing	regulation of gastric acid secretion	Any process that modulates the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion.		mondo.json		http://purl.obolibrary.org/obo/GO_0060453		
MONDO:0014103	biolink:Disease	hypogonadotropic hypogonadism 18 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene.	ICD10CM:E23.0|OMIM:615267|DOID:0090076|UMLS:C3808975	mondo.json	hypogonadotropic hypogonadism 18 with or without anosmia, Autosomal recessive, Autosomal dominant, Digenic dominant|IL17RD hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 18 with or without anosmia|HH18|hypogonadotropic hypogonadism caused by mutation in IL17RD	http://purl.obolibrary.org/obo/MONDO_0014103	DOID:0090076|https://omim.org/entry/615267|UMLS:C3808975	
GO:0060454	biolink:NamedThing	positive regulation of gastric acid secretion	Any process that increases the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion.		mondo.json		http://purl.obolibrary.org/obo/GO_0060454		
MONDO:0014102	biolink:Disease	hypogonadotropic hypogonadism 17 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SPRY4 gene.	UMLS:C3808971|DOID:0090079|OMIM:615266|ICD10CM:E23.0	mondo.json	hypogonadotropic hypogonadism caused by mutation in SPRY4|hypogonadotropic hypogonadism 17 with or without anosmia|HH17|SPRY4 hypogonadotropic hypogonadism	http://purl.obolibrary.org/obo/MONDO_0014102	DOID:0090079|https://omim.org/entry/615266|UMLS:C3808971	
GO:0060455	biolink:NamedThing	negative regulation of gastric acid secretion	Any process that decreases the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion.		mondo.json		http://purl.obolibrary.org/obo/GO_0060455		
MONDO:0016764	biolink:Disease	isolated anophthalmia-microphthalmia syndrome	Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit.	UMLS:CN202019|OMIM:251600|Orphanet:2542|GARD:0012085	mondo.json	nonsyndromic anophthalmia-microphthalmia syndrome|primitive anophthalmia|microphthalmia-anophthalmia-coloboma spectrum|MAC spectrum|isolated pure microphthalmia|isolated anophthalmia - microphthalmia|clinical anophthalmia	http://purl.obolibrary.org/obo/MONDO_0016764	Orphanet:2542|UMLS:CN202019	ordo_group_of_disorders|disease_grouping
GO:0060456	biolink:NamedThing	positive regulation of digestive system process	Any process that increases the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism.		mondo.json		http://purl.obolibrary.org/obo/GO_0060456		
MONDO:0014109	biolink:Disease	obsolete NGLY1-deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0014109		
MONDO:0016765	biolink:Disease	19p13.12 microdeletion syndrome	19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.	Orphanet:254346|SCTID:719597005|GARD:0010991|UMLS:CN202023|UMLS:C4304579	mondo.json	monosomy 19p13.12|Del(19)(p13.12)|Chromosome19p13.12 microdeletion	http://purl.obolibrary.org/obo/MONDO_0016765	UMLS:C4304579|Orphanet:254346|http://identifiers.org/snomedct/719597005|UMLS:CN202023	gard_rare|ordo_malformation_syndrome
MONDO:0014108	biolink:Disease	Fanconi anemia complementation group Q	Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene.	UMLS:C3808988|DOID:0111093|OMIM:615272	mondo.json	ERCC4 Fanconi anemia|Fanconi anemia, complementation group Q|Fanconi anemia caused by mutation in ERCC4|Fanconi anemia complementation group type Q|Fanconi Anemia, complementation group type Q|FANCQ	http://purl.obolibrary.org/obo/MONDO_0014108	UMLS:C3808988|DOID:0111093|https://omim.org/entry/615272	
GO:0060457	biolink:NamedThing	negative regulation of digestive system process	Any process that decreases the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism.		mondo.json		http://purl.obolibrary.org/obo/GO_0060457		
MONDO:0014107	biolink:Disease	hypogonadotropic hypogonadism 21 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene.	OMIM:615271|UMLS:C3808986|ICD10CM:E23.0|DOID:0090093	mondo.json	hypogonadotropic hypogonadism 21 with anosmia|FLRT3 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 21 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in FLRT3|HH21	http://purl.obolibrary.org/obo/MONDO_0014107	UMLS:C3808986|https://omim.org/entry/615271|DOID:0090093	
MONDO:0016766	biolink:Disease	obsolete rare lichen planus	OBSOLETE. Lichen planus (LP) is a common inflammatory dermatosis characterized by the development of pruritic violaceous papules or plaques on mucocutaneous surfaces. Eruptions can involve the face, neck, limbs, back, genitalia, tongue, buccal mucosa, nails, and scalp. LP comprises rare variants affecting the skin and the mucosa. Rare cutaneous LP includes linear LP (referring to blaschkoid and zosteriform distributions of lichenoid lesions), actinic LP, annular LP, atrophic LP, annular atrophic LP, lichen planopilaris (comprising Graham Little-Piccardi-Lassueur syndrome and frontal fibrosing alopecia), lichen planus pigmentosus, and lichen planus pemphigoides. Rare mucosal LP includes vulvovaginal gingival syndrome and LP sialadenitis.	Orphanet:254367|GARD:0012344	mondo.json	rare lichen planus|rare LP	http://purl.obolibrary.org/obo/MONDO_0016766	Orphanet:254367	obsoletion_candidate|gard_rare|disease_grouping|ordo_group_of_disorders
MONDO:0016767	biolink:Disease	obsolete cutaneous lichen planus		UMLS:CN226995|Orphanet:254370	mondo.json	rare cutaneous lichen planus|rare cutaneous LP	http://purl.obolibrary.org/obo/MONDO_0016767	Orphanet:254370|UMLS:CN226995	disease_grouping|ordo_group_of_disorders
MONDO:0014106	biolink:Disease	hypogonadotropic hypogonadism 20 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene.	OMIM:615270|ICD10CM:E23.0|UMLS:C3808983|DOID:0090082	mondo.json	FGF17 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 20 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in FGF17|HH20	http://purl.obolibrary.org/obo/MONDO_0014106	UMLS:C3808983|DOID:0090082|https://omim.org/entry/615270	
MONDO:0016760	biolink:Disease	microcephaly-microcornea syndrome, Seemanova type	Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.	MESH:C537539|SCTID:715464002|Orphanet:2528|GARD:0003627	mondo.json	microcephaly microcornea syndrome Seemanova type|X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation|Seemanova-Lesny syndrome|Seemanova Lesny syndrome	http://purl.obolibrary.org/obo/MONDO_0016760	Orphanet:2528|http://identifiers.org/mesh/C537539|http://identifiers.org/snomedct/715464002	gard_rare|ordo_malformation_syndrome
MONDO:0016761	biolink:Disease	spondyloepiphyseal dysplasia	An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis.	Orphanet:253|ICD9:756.9|DOID:0112280|GARD:0007687|MedDRA:10062920|Orphanet:252	mondo.json	spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia|SED and SEMD|spondyloepiphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0016761	DOID:0112280	disease_grouping|ordo_group_of_disorders
MONDO:0016762	biolink:Disease	microcornea-corectopia-macular hypoplasia syndrome	Microcornea-corectopia-macular hypoplasia syndrome is characterised by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family.	Orphanet:2535|UMLS:C2931531|GARD:0003636|MESH:C537551	mondo.json	microcornea corectopia macular hypoplasia	http://purl.obolibrary.org/obo/MONDO_0016762	http://identifiers.org/mesh/C537551|UMLS:C2931531	ordo_malformation_syndrome
MONDO:0016763	biolink:Disease	spondylometaphyseal dysplasia	Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life.	OMIMPS:184255|Orphanet:254	mondo.json	spondylometaphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0016763	Orphanet:254|https://omim.org/phenotypicSeries/PS184255	disease_grouping|ordo_group_of_disorders
MONDO:0014101	biolink:Disease	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12	Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene.	Orphanet:899|UMLS:C3808964|OMIM:615249|DOID:0111235	mondo.json	muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12|MDDGA12|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12|POMK muscular dystrophy-dystroglycanopathy, type A|Walker-Warburg syndrome or muscle-eye-brain disease, POMK-related	http://purl.obolibrary.org/obo/MONDO_0014101	DOID:0111235|https://omim.org/entry/615249|UMLS:C3808964	
MONDO:0002109	biolink:Disease	pituitary cancer	A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract.	UMLS:C0496842|SCTID:363482009|DOID:1785|NCIT:C4769|GARD:0009371|EFO:0005578	mondo.json	malignant neoplasm of pituitary gland|malignant neoplasm of the pituitary gland|malignant pituitary gland neoplasm|malignant pituitary neoplasm|malignant pituitary gland tumor|malignant neoplasm of the pituitary|pituitary gland cancer|malignant neoplasm of pituitary|cancer of pituitary gland|pituitary neoplasm|malignant pituitary tumor|pituitary gland neoplasm|malignant tumor of the pituitary gland|malignant tumor of pituitary gland|malignant tumor of the pituitary|malignant tumor of pituitary|pituitary neoplasms, malignant|pituitary cancer|pituitary tumor, malignant	http://purl.obolibrary.org/obo/MONDO_0002109	DOID:1785|NCIT:C4769|UMLS:C0496842|http://identifiers.org/snomedct/363482009	
MONDO:0014100	biolink:Disease	dilated cardiomyopathy 1KK	Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene.	OMIM:615248|Orphanet:154|DOID:0110445|Orphanet:75249	mondo.json	dilated cardiomyopathy caused by mutation in MYPN|cardiomyopathy, hypertrophic, 22|cardiomyopathy, familial restrictive, 4|cardiomyopathy, dilated, 1KK|MYPN dilated cardiomyopathy|cardiomyopathy, familial hypertrophic, 22|CMD1KK|dilated cardiomyopathy type 1KK|cardiomyopathy, dilated, type 1Kk	http://purl.obolibrary.org/obo/MONDO_0014100	https://omim.org/entry/615248|DOID:0110445	clingen
MONDO:0002127	biolink:Disease	urethral stricture	Narrowing of any part of the urethra. It is characterized by decreased urinary stream and often other obstructive voiding symptoms.	ICD9:598.9|MESH:D014525|HP:0012227|ICD9:598.8|DOID:1829|UMLS:C0041974|SCTID:76618002	mondo.json	urethral stricture|urethral stricture (disease)	http://purl.obolibrary.org/obo/MONDO_0002127	http://identifiers.org/mesh/D014525|http://identifiers.org/snomedct/76618002|UMLS:C0041974|DOID:1829	
MONDO:0002128	biolink:Disease	mononeuritis multiplex	A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome.	DOID:1835|GARD:0007056|NCIT:C70938|ICD10CM:G58.7|UMLS:C0151295|ICD9:354.5|SCTID:30292005	mondo.json	mononeuritis multiplex	http://purl.obolibrary.org/obo/MONDO_0002128	UMLS:C0151295|NCIT:C70938|http://purl.bioontology.org/ontology/ICD10CM/G58.7|http://identifiers.org/snomedct/30292005|DOID:1835	gard_rare
MONDO:0004789	biolink:Disease	cholangitis	An acute or chronic inflammatory process affecting the biliary tract.	NCIT:C26718|ICD9:576.1|UMLS:C0008311|MESH:D002761|DOID:9446|ICD10CM:K83.0|SCTID:82403002	mondo.json	biliary tree inflammation|inflammation of biliary tree|cholangitis|biliary tract infection	http://purl.obolibrary.org/obo/MONDO_0004789	http://identifiers.org/mesh/D002761|UMLS:C0008311|DOID:9446|NCIT:C26718|http://identifiers.org/snomedct/82403002|http://purl.bioontology.org/ontology/ICD10CM/K83.0	
MONDO:0002129	biolink:Disease	bone cancer	A primary or metastatic malignant neoplasm affecting the bone or articular cartilage.	MESH:D001859|NCIT:C4016|DOID:184|CSP:2019-1041|ICD9:170.9|SCTID:428281000	mondo.json	cancer of skeletal element|cancer of bone|cancer of the bone|bone cancer|malignant bone tumour|malignant tumor of bone|malignant tumor of the bone|osseous cancer|bone neoplasm|CA - bone cancer|malignant osseous tumor|skeletal element cancer|malignant neoplasm of bone|malignant neoplasm of skeletal element|osseous tumor|malignant bone tumor|malignant neoplasm of the bone|malignant bone neoplasm|malignant skeletal element neoplasm|bone tumour|malignant osseous neoplasm	http://purl.obolibrary.org/obo/MONDO_0002129	DOID:184|http://identifiers.org/mesh/D001859|http://identifiers.org/snomedct/428281000|NCIT:C4016	
MONDO:0002123	biolink:Disease	calcinosis	Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer.	ICD9:275.49|SCTID:6595006|DOID:182|MESH:D002114|NCIT:C3672|EFO:0003837|HP:0003761	mondo.json	calcification|deposit(s), calcium|pathologically calcified structure|calcium deposit(s)|pathologic calcification|macrocalcification	http://purl.obolibrary.org/obo/MONDO_0002123	NCIT:C3672|DOID:182|http://identifiers.org/snomedct/6595006|http://identifiers.org/mesh/D002114	
MONDO:0004786	biolink:Disease	chronic cholangitis	Cholangitis that is persistent and long-standing.	DOID:9439|SCTID:71912000|NCIT:C35335|UMLS:C0267918	mondo.json	cholangitis, chronic	http://purl.obolibrary.org/obo/MONDO_0004786	NCIT:C35335|UMLS:C0267918|DOID:9439|http://identifiers.org/snomedct/71912000	
MONDO:0002124	biolink:Disease	secondary lacrimal atrophy		DOID:1822|SCTID:75068001|ICD9:375.14	mondo.json	consecutive atrophy of lacrimal gland|secondary lacrimal atrophy|secondary atrophy of lacrimal gland	http://purl.obolibrary.org/obo/MONDO_0002124	http://identifiers.org/snomedct/75068001|DOID:1822	
MONDO:0004785	biolink:Disease	blepharitis	Inflammation of the eyelids near the eyelashes.	ICD9:373.00|ICD9:373.8|MESH:D001762|ICD10CM:H01.0|NCIT:C112183|SCTID:41446000|ICD9:373.4|DOID:9423|ICD9:373.9|ICD9:373.0|UMLS:C0005741	mondo.json	inflammation of eyelid|eyelid inflammation	http://purl.obolibrary.org/obo/MONDO_0004785	http://identifiers.org/mesh/D001762|http://identifiers.org/snomedct/41446000|NCIT:C112183|DOID:9423|UMLS:C0005741|http://purl.bioontology.org/ontology/ICD10CM/H01.0	
MONDO:0028737	biolink:Disease	obsolete biliary atresia disorder		HP:0005912|Orphanet:498345	mondo.json		http://purl.obolibrary.org/obo/MONDO_0028737	Orphanet:498345	
MONDO:0004788	biolink:Disease	cervix squamous papilloma	A papilloma that arises from the squamous epithelium of the cervix.	NCIT:C6342|DOID:9445|UMLS:C1336900	mondo.json	squamous papilloma of the cervix uteri|cervix uteri squamous papilloma|squamous papilloma of cervix|squamous papilloma of the cervix|squamous papilloma of cervix uteri|cervix squamous papilloma|squamous papilloma of uterine cervix|squamous papilloma of the uterine cervix|uterine cervix squamous papilloma|cervical squamous papilloma	http://purl.obolibrary.org/obo/MONDO_0004788	NCIT:C6342|DOID:9445|UMLS:C1336900	
MONDO:0002125	biolink:Disease	status epilepticus	A life-threatening situation in which the brain is in a continuous state of seizure.	NCIT:C85079|MESH:D013226|EFO:0008526|SCTID:230456007|UMLS:C0038220|DOID:1824|GARD:0010191	mondo.json	grand mal status|SE|generalized convulsive status epilepticus|GCSE	http://purl.obolibrary.org/obo/MONDO_0002125	http://identifiers.org/mesh/D013226|http://identifiers.org/snomedct/230456007|UMLS:C0038220|NCIT:C85079|DOID:1824	gard_rare
MONDO:0004787	biolink:Disease	cervical mullerian papilloma	A rare, benign, papillary neoplasm that arises from the cervix. It is characterized by the presence of a fibrovascular core covered by mucinous epithelial cells.	UMLS:C1516427|NCIT:C40215|DOID:9442	mondo.json	cervical Muellerian papilloma|cervical Müllerian papilloma|cervical Mullerian papilloma	http://purl.obolibrary.org/obo/MONDO_0004787	DOID:9442|UMLS:C1516427|NCIT:C40215	
MONDO:0002126	biolink:Disease	obsolete childhood absence epilepsy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002126		
MONDO:0004782	biolink:Disease	diabetes insipidus	A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related.	DOID:9409|ICD9:253.5|MESH:D003919|GARD:0011934|UMLS:C0011848|ICD10CM:E23.2|NCIT:C43263|SCTID:15771004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004782	UMLS:C0011848|NCIT:C43263|http://identifiers.org/snomedct/15771004|DOID:9409|http://purl.bioontology.org/ontology/ICD10CM/E23.2|http://identifiers.org/mesh/D003919	
MONDO:0002120	biolink:Disease	neuroendocrine carcinoma	A malignant neuroendocrine neoplasm composed of cells containing secretory granules that stain positive for NSE and chromogranin. The neoplastic cells are often round and form clusters or trabecular sheets. Representative examples are small cell carcinoma, large cell neuroendocrine carcinoma, and Merkel cell carcinoma.	NCIT:C3773|SCTID:253000007|UMLS:C0206695|ICDO:8246/3|MESH:D018278|DOID:1800	mondo.json	NEC|neuroendocrine carcinoma|neuroendocrine cancer	http://purl.obolibrary.org/obo/MONDO_0002120	UMLS:C0206695|http://identifiers.org/mesh/D018278|http://identifiers.org/snomedct/253000007|DOID:1800|NCIT:C3773	
MONDO:0004781	biolink:Disease	acute myocardial infarction	Necrosis of the myocardium, as a result of interruption of the blood supply to the area. It is characterized by a severe and rapid onset of symptoms that may include chest pain, often radiating to the left arm and left side of the neck, dyspnea, sweating, and palpitations.	ICD10CM:I21.9|DOID:9408|UMLS:C0155626|ICD9:410.90|ICD9:410.9|NCIT:C35204|ICD9:410.82|EFO:0008583|ICD9:410.81|ICD9:410.92|SCTID:57054005|ICD9:410.80|ICD9:410.91|ICD9:410	mondo.json	myocardial infarction (disease), acute|acute myocardial infarction (disease)	http://purl.obolibrary.org/obo/MONDO_0004781	http://identifiers.org/snomedct/57054005|UMLS:C0155626|DOID:9408|http://purl.bioontology.org/ontology/ICD10CM/I21.9|NCIT:C35204	
MONDO:0002121	biolink:Disease	mononeuritis simplex	Neuritis of a single nerve.	SCTID:32595002|ICD9:355.9|UMLS:C0235880|DOID:1802	mondo.json	mononeuritis	http://purl.obolibrary.org/obo/MONDO_0002121	http://identifiers.org/snomedct/32595002|UMLS:C0235880|DOID:1802	
MONDO:0004784	biolink:Disease	allergic asthma	A asthma with a basis in a pathological type I hypersensitivity reaction.	DOID:9415|UMLS:C0155877|SCTID:389145006|ICD9:493.0	mondo.json	extrinsic asthma with status asthmaticus|extrinsic asthma with acute exacerbation|allergic form of asthma|atopic asthma	http://purl.obolibrary.org/obo/MONDO_0004784	http://identifiers.org/snomedct/389145006|DOID:9415|UMLS:C0155877	
MONDO:0002122	biolink:Disease	neuritis	A neuropathy arising from inflammation of one or more nerves.	SCTID:128192007|UMLS:C0027813|ICD9:729.2|MESH:D009443|SCTID:84299009|DOID:1803|NCIT:C116381	mondo.json	peripheral neuritis|nerve inflammation	http://purl.obolibrary.org/obo/MONDO_0002122	UMLS:C0027813|http://identifiers.org/mesh/D009443|NCIT:C116381|http://identifiers.org/snomedct/128192007|DOID:1803	
MONDO:0004783	biolink:Disease	obsolete panhypopituitarism			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004783		
MONDO:0004780	biolink:Disease	strictly posterior acute myocardial infarction		DOID:9407|ICD9:410.60	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004780	DOID:9407	
MONDO:0016757	biolink:Disease	malignant triton tumor	Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST) characterized histopathologically by focal rhabdomyoblastic differentiation.	ICDO:9561/3|DOID:6707|UMLS:C0334616|NCIT:C4335|ICD9:171.9|Orphanet:252212|SCTID:404040002	mondo.json	MPNST with rhabdomyosarcoma|malignant neoplasm of the peripheral nerve sheath with rhabdomyosarcoma|malignant neoplasm of peripheral nerve sheath with rhabdomyosarcoma|MPNST with rhabdomyosarcomatous differentiation|MPNST with rhabdomyoblastic differentiation|malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation|malignant peripheral nerve sheath tumor with rhabdomyosarcoma|malignant tumor of the peripheral nerve sheath with rhabdomyosarcoma|MTT|malignant tumor of peripheral nerve sheath with rhabdomyosarcoma|malignant Triton tumour|malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0016757	NCIT:C4335|UMLS:C0334616|DOID:6707|Orphanet:252212|http://identifiers.org/snomedct/404040002	ordo_clinical_subtype
MONDO:0016758	biolink:Disease	microcephaly-brain defect-spasticity-hypernatremia syndrome	Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings reported and there have been no further descriptions in the literature since 1986.	GARD:0003607|UMLS:CN202009|Orphanet:2523	mondo.json	microcephaly brain defect spasticity hypernatremia|Franek-Bocker-Kahlen syndrome|microcephaly - brain defect - spasticity - hypernatremia	http://purl.obolibrary.org/obo/MONDO_0016758	UMLS:CN202009|Orphanet:2523	ordo_malformation_syndrome|gard_rare
MONDO:0016759	biolink:Disease	pontocerebellar hypoplasia type 2	Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty.	GARD:0010705|NCIT:C124057|Orphanet:2524|SCTID:715463008|MESH:C548070|UMLS:C2932714	mondo.json	PCH2|progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy	http://purl.obolibrary.org/obo/MONDO_0016759	Orphanet:2524|http://identifiers.org/mesh/C548070|http://identifiers.org/snomedct/715463008|UMLS:C2932714|NCIT:C124057	ordo_malformation_syndrome|gard_rare
MONDO:0200001	biolink:Disease	obsolete chromate resistance		OMIM:118840	mondo.json	CHROMATE RESISTANCE|CHR	http://purl.obolibrary.org/obo/MONDO_0200001	https://omim.org/entry/118840	
MONDO:0200000	biolink:Disease	uterine ligament adenosarcoma	An extremely rare adenosarcoma that arises from the uterine ligament.	NCIT:C102570|UMLS:C3640823	mondo.json	adenosarcoma of uterine ligament|uterine ligament adenosarcoma	http://purl.obolibrary.org/obo/MONDO_0200000	NCIT:C102570|UMLS:C3640823	
MONDO:0016753	biolink:Disease	obsolete benign schwannoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016753		
MONDO:0016754	biolink:Disease	obsolete vestibular schwannoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016754		
MONDO:0016755	biolink:Disease	neurofibroma	An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors.	NCIT:C3272|SCTID:404029005|EFO:0000622|UMLS:C0027830|GARD:0007191|MESH:D009455|ICDO:9540/0|ICD9:215.9|ONCOTREE:NFIB|DOID:962|Orphanet:252183|MedDRA:10029267	mondo.json	neurofibroma (WHO grade I)|neurofibroma|neurofibroma, benign|NFIB	http://purl.obolibrary.org/obo/MONDO_0016755	NCIT:C3272|http://identifiers.org/snomedct/404029005|UMLS:C0027830|http://identifiers.org/mesh/D009455|DOID:962|Orphanet:252183	gard_rare|ordo_disease
MONDO:0016756	biolink:Disease	inherited nervous system cancer-predisposing syndrome		Orphanet:252190|UMLS:CN202004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016756	UMLS:CN202004|Orphanet:252190	disease_grouping|ordo_group_of_disorders
MONDO:0016750	biolink:Disease	microcephaly-cleft palate syndrome	Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.	SCTID:719394002|MESH:C535622|Orphanet:2521|UMLS:C2930954|GARD:0008623	mondo.json	microcephaly cleft palate autosomal dominant|Halal syndrome|microcephaly-cleft palate-abnormal retinal pigmentation syndrome	http://purl.obolibrary.org/obo/MONDO_0016750	UMLS:C2930954|Orphanet:2521|http://identifiers.org/snomedct/719394002|http://identifiers.org/mesh/C535622	ordo_malformation_syndrome
MONDO:0016751	biolink:Disease	malignant perineurioma	A very rare malignant tumor with morphologic features similar to those of benign perineurioma of soft tissue along with hypercellularity, nuclear atypia, hyperchromasia, and a high mitotic rate.	Orphanet:252128|ICDO:9571/3|UMLS:C1266188|SCTID:761958009|NCIT:C66845	mondo.json	malignant peripheral nerve sheath tumor with perineurial differentiation|perineurial malignant peripheral nerve sheath tumor|perineurioma, malignant	http://purl.obolibrary.org/obo/MONDO_0016751	NCIT:C66845|UMLS:C1266188|Orphanet:252128|http://identifiers.org/snomedct/761958009	ordo_disease
MONDO:0016752	biolink:Disease	benign peripheral nerve sheath tumor		Orphanet:252131|UMLS:CN202000	mondo.json	BPNST	http://purl.obolibrary.org/obo/MONDO_0016752	Orphanet:252131|UMLS:CN202000	ordo_group_of_disorders|disease_grouping
UBERON:0001425	biolink:AnatomicalEntity	pectoral lymphatic vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001425		
UBERON:0013411	biolink:AnatomicalEntity	cranial cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013411		
PATO:0001690	biolink:NamedThing	contractile	A contractility quality inhering in a bearer by virtue of the bearer's ability of contracting or being contracted.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001690		
PATO:0001693	biolink:NamedThing	increased viscosity	A viscosity which relatively high.		mondo.json	high viscosity	http://purl.obolibrary.org/obo/PATO_0001693		
PATO:0001694	biolink:NamedThing	decreased viscosity	A viscosity which relatively low.		mondo.json	low viscosity	http://purl.obolibrary.org/obo/PATO_0001694		
UBERON:0001435	biolink:AnatomicalEntity	carpal bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001435		
UBERON:0001434	biolink:AnatomicalEntity	skeletal system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001434		
UBERON:0001419	biolink:AnatomicalEntity	skin of limb			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001419		
UBERON:0001418	biolink:AnatomicalEntity	skin of thorax			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001418		
UBERON:0001415	biolink:AnatomicalEntity	skin of pelvis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001415		
UBERON:0001417	biolink:AnatomicalEntity	skin of neck			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001417		
UBERON:0001416	biolink:AnatomicalEntity	skin of abdomen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001416		
HP:0030186	biolink:PhenotypicFeature	Kinetic tremor	Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor.	SNOMEDCT_US:30721006|MSH:D014202|SNOMEDCT_US:609558009|MSH:D020329|UMLS:C0270736|UMLS:C0234376	mondo.json	Essential tremor	http://purl.obolibrary.org/obo/HP_0030186		
CHEBI:85638	biolink:ChemicalSubstance	haloacetate(1-)	A monocarboxylic acid anion resulting from the deprotonation of the carboxy group of a haloacetic acid.		mondo.json	haloacetate (1-)|a haloacetate	http://purl.obolibrary.org/obo/CHEBI_85638		
UBERON:0001422	biolink:AnatomicalEntity	facial lymphatic vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001422		
UBERON:0001421	biolink:AnatomicalEntity	pectoral girdle region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001421		
UBERON:0001424	biolink:AnatomicalEntity	ulna			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001424		
UBERON:0001423	biolink:AnatomicalEntity	radius bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001423		
HP:0030191	biolink:PhenotypicFeature	Abnormal peripheral nervous system synaptic transmission	An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system.	UMLS:C4021046	mondo.json	Abnormal PNS synaptic transmission	http://purl.obolibrary.org/obo/HP_0030191		
CHEBI:36688	biolink:ChemicalSubstance	heterotricyclic compound			mondo.json	heterotricyclic compound|heterotricyclic compounds|heterotricyclic compounds	http://purl.obolibrary.org/obo/CHEBI_36688		
CHEBI:36685	biolink:ChemicalSubstance	chlorocarboxylic acid	A carboxylic acid containing at least one chloro group.		mondo.json	chlorocarboxylic acids	http://purl.obolibrary.org/obo/CHEBI_36685		
CHEBI:36683	biolink:ChemicalSubstance	organochlorine compound	An organochlorine compound is a compound containing at least one carbon-chlorine bond.		mondo.json	organochlorides|an organochlorine molecule|chloroorganic compounds|organochloride|organochloride compound|organochlorine compounds|organochlorine compound|chlororganische Verbindungen|organochloride compounds	http://purl.obolibrary.org/obo/CHEBI_36683		
CHEBI:36684	biolink:ChemicalSubstance				mondo.json		http://purl.obolibrary.org/obo/CHEBI_36684		
SO:0000055	biolink:SequenceFeature	hyperploid	A kind of chromosome variation where the chromosome complement is not an exact multiple of the haploid number as extra chromosomes are present.		mondo.json		http://purl.obolibrary.org/obo/SO_0000055		
SO:0000054	biolink:SequenceFeature	aneuploid	A kind of chromosome variation where the chromosome complement is not an exact multiple of the haploid number.		mondo.json		http://purl.obolibrary.org/obo/SO_0000054		
SO:0000056	biolink:SequenceFeature	hypoploid	A kind of chromosome variation where the chromosome complement is not an exact multiple of the haploid number as some chromosomes are missing.		mondo.json		http://purl.obolibrary.org/obo/SO_0000056		
CHEBI:36699	biolink:ChemicalSubstance	corticosteroid hormone	Any of a class of steroid hormones that are produced in the adrenal cortex.		mondo.json	adrenal cortex hormones|corticosteroid hormones	http://purl.obolibrary.org/obo/CHEBI_36699		
UBERON:0001469	biolink:AnatomicalEntity	sternoclavicular joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001469		
NCBITaxon:84527	biolink:OrganismalEntity	Metagonimus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_84527		
UBERON:0013455	biolink:AnatomicalEntity	spheno-petrosal fissure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013455		
PATO:0001655	biolink:NamedThing	osmolarity	A concentration quality inhering in a bearer by virtue of the bearer's amount of osmoles of solute per liter of solution.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001655		
NCBITaxon:84526	biolink:OrganismalEntity	Heterophyidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_84526		
PATO:0001656	biolink:NamedThing	decreased osmolarity	A osmolarity which is relatively low.		mondo.json	low osmolarity	http://purl.obolibrary.org/obo/PATO_0001656		
NCBITaxon:84529	biolink:OrganismalEntity	Metagonimus yokogawai		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_84529		
PATO:0001657	biolink:NamedThing	increased osmolarity	A osmolarity which is relatively high.		mondo.json	high osmolarity	http://purl.obolibrary.org/obo/PATO_0001657		
UBERON:0001471	biolink:AnatomicalEntity	skin of prepuce of penis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001471		
UBERON:0001470	biolink:AnatomicalEntity	glenohumeral joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001470		
CHEBI:73690	biolink:ChemicalSubstance	erythrose 4-phosphate/phosphoenolpyruvate family amino acid	An L-alpha-amino acid which is biosynthesised from erythrose 4-phosphate and phosphoenolpyruvate (i.e. phenylalanine, tyrosine, and tryptophan). A closed class.		mondo.json	erythrose 4-phosphate family amino acids|erythrose 4-phosphate and phosphoenolpyruvate family amino acids|phosphoenolpyruvate family amino acid|phosphoenolpyruvate family amino acids|erythrose 4-phosphate and phosphoenolpyruvate family amino acid|erythrose 4-phosphate family amino acid|erythrose 4-phosphate/phosphoenolpyruvate family amino acids	http://purl.obolibrary.org/obo/CHEBI_73690		
UBERON:0001476	biolink:AnatomicalEntity	deltoid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001476		
UBERON:0001479	biolink:AnatomicalEntity	sesamoid bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001479		
UBERON:0001473	biolink:AnatomicalEntity	lymphatic vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001473		
UBERON:0001472	biolink:AnatomicalEntity	vaginal venous plexus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001472		
UBERON:0001474	biolink:AnatomicalEntity	bone element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001474		
MONDO:0004603	biolink:Disease	collagenopathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004603		
MONDO:0004602	biolink:Disease	obsolete polymyalgia rheumatica			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004602		
MONDO:0004605	biolink:Disease	chronic ulcer of skin		EFO:0007066|ICD9:707.8|UMLS:C0157738|SCTID:19429009|ICD9:707.9|DOID:8549|ICD9:707	mondo.json	indolent ulcer (morphologic abnormality)|callous ulcer (morphologic abnormality)|callous ulcer|indolent ulcer	http://purl.obolibrary.org/obo/MONDO_0004605	UMLS:C0157738|DOID:8549|http://identifiers.org/snomedct/19429009	
MONDO:0004604	biolink:Disease	Hodgkin's lymphoma, lymphocytic-histiocytic predominance	A subtype of classical Hodgkin lymphoma with scattered Hodgkin and Reed-Sternberg cells and a nodular or less often diffuse cellular background consisting of small lymphocytes and with an absence of neutrophils and eosinophils. (WHO, 2008)	ONCOTREE:LRCHL|DOID:8543|NCIT:C6913|ICDO:9651/3|Orphanet:98845|ICD9:201.4|MedDRA:10020231|SCTID:118607005	mondo.json	lymphocyte rich classical Hodgkin lymphoma|Hodgkin's disease, lymphocyte predominance [obs]|lymphocyte rich classical Hodgkin's disease|lymphocyte-rich Classic Hodgkin lymphoma|lymphocyte rich Hodgkin lymphoma|Hodgkin lymphoma, lymphocytic-histiocytic predominance|lymphocyte rich Hodgkin's disease|LRCHL|Hodgkin's disease, lymphocyte predominance|lymphocyte-rich classical Hodgkin's lymphoma|Hodgkin lymphoma, lymphocyte-rich|lymphocyte rich classical Hodgkin's lymphoma|lymphocyte-rich classical Hodgkin lymphoma|lymphocyte rich Hodgkin's lymphoma|classic Hodgkin lymphoma, lymphocyte-rich type	http://purl.obolibrary.org/obo/MONDO_0004604	NCIT:C6913|http://identifiers.org/snomedct/118607005|DOID:8543|Orphanet:98845	ordo_histopathological_subtype
UBERON:0001459	biolink:AnatomicalEntity	skin of external ear			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001459		
UBERON:0001458	biolink:AnatomicalEntity	skin of lip			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001458		
MONDO:0004601	biolink:Disease	ulcer of lower limbs	Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer.	EFO:0007068|SCTID:419193008|DOID:8529|ICD9:707.13	mondo.json	Ulcer of calf|Ulcer of ankle|Ulcer of thigh|Ulcer of heel and midfoot	http://purl.obolibrary.org/obo/MONDO_0004601	DOID:8529|http://identifiers.org/snomedct/419193008	
MONDO:0004600	biolink:Disease	monocytic leukemia		ICD9:206.90|ICD9:206.8|DOID:8527|ICD9:206.81|SCTID:188744006|ICD9:206.80|ICD9:206.91	mondo.json	schilling's leukemia	http://purl.obolibrary.org/obo/MONDO_0004600	http://identifiers.org/snomedct/188744006|DOID:8527	
CHEBI:131927	biolink:ChemicalSubstance	dicarboxylic acids and O-substituted derivatives	A class of carbonyl compound encompassing dicarboxylic acids and any derivatives obtained by substitution of either one or both of the carboxy hydrogens.		mondo.json	dicarboxylic acids and derivatives	http://purl.obolibrary.org/obo/CHEBI_131927		
MONDO:0550003	biolink:Disease	SEC61B-related polycystic liver disease	Any autosomal dominant polycystic liver disease in which the cause of the disease is a mutation in the SEC61B gene.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0550003		
UBERON:0001460	biolink:AnatomicalEntity	arm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001460		
HGNC:8108	biolink:NamedThing	OCRL			mondo.json		http://identifiers.org/hgnc/8108		
HGNC:8109	biolink:NamedThing	ODC1			mondo.json		http://identifiers.org/hgnc/8109		
UBERON:0001466	biolink:AnatomicalEntity	pedal digit			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001466		
UBERON:0001465	biolink:AnatomicalEntity	knee			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001465		
UBERON:0001468	biolink:AnatomicalEntity	intervertebral joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001468		
UBERON:0001467	biolink:AnatomicalEntity	shoulder			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001467		
RO:0017001	biolink:NamedThing	device utilizes material	X device utilizes material Y means X and Y are material entities, and X is capable of some process P that has input Y.		mondo.json	utilizes	http://purl.obolibrary.org/obo/RO_0017001		
HGNC:8101	biolink:NamedThing	OCA2			mondo.json		http://identifiers.org/hgnc/8101		
UBERON:0001461	biolink:AnatomicalEntity	elbow			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001461		
UBERON:0001464	biolink:AnatomicalEntity	hip			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001464		
HGNC:8104	biolink:NamedThing	OCLN			mondo.json		http://identifiers.org/hgnc/8104		
UBERON:0001463	biolink:AnatomicalEntity	manual digit 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001463		
CHEBI:24662	biolink:ChemicalSubstance	hydroxy-amino acid	A non-proteinogenic alpha-amino acid bearing one or more hydroxy groups at unspecified positions.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_24662		
CHEBI:24669	biolink:ChemicalSubstance	hydroxy carboxylic acid	Any carboxylic acid with at least one hydroxy group.		mondo.json	hydroxycarboxylic acids|hydroxy carboxylic acids|hydroxycarboxylic acid	http://purl.obolibrary.org/obo/CHEBI_24669		
UBERON:0001448	biolink:AnatomicalEntity	metatarsal bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001448		
UBERON:0001447	biolink:AnatomicalEntity	tarsal bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001447		
UBERON:0001449	biolink:AnatomicalEntity	phalanx of pes			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001449		
CHEBI:83039	biolink:ChemicalSubstance	crustacean metabolite	An animal metabolite produced by arthropods such as crabs, lobsters, crayfish, shrimps and krill.		mondo.json	crustacean metabolites	http://purl.obolibrary.org/obo/CHEBI_83039		
HGNC:28296	biolink:NamedThing	DYNC2I2			mondo.json		http://identifiers.org/hgnc/28296		
PATO:0001673	biolink:NamedThing	cystic	Structure quality that is the presence of closed epithelium bounded capsules containing one or more liquid or solid organism substances.		mondo.json	cysts	http://purl.obolibrary.org/obo/PATO_0001673		
GO:0060610	biolink:NamedThing	mesenchymal cell differentiation involved in mammary gland development	The process in which a relatively unspecialized cell acquires specialized features of a mammary gland mesenchymal cell. Mammary gland mesenchymal cells form a loosely connected network of cells that surround the mammary ducts.		mondo.json	mammary gland mesenchymal cell differentiation	http://purl.obolibrary.org/obo/GO_0060610		
HP:0030159	biolink:PhenotypicFeature	Cervical polyp	Abnormal growth of tissue projecting from a mucous membrane of the endocervix.	SNOMEDCT_US:123841004|MSH:D002583|SNOMEDCT_US:65576009|UMLS:C0007855|UMLS:C0007873	mondo.json	Cervical tumour|Cervical tumor	http://purl.obolibrary.org/obo/HP_0030159		
PATO:0001671	biolink:NamedThing	increased distribution	A distribution which is relatively high.		mondo.json	high distribution	http://purl.obolibrary.org/obo/PATO_0001671		
PATO:0001672	biolink:NamedThing	decreased distribution	A distribution which is relatively low.		mondo.json	low distribution	http://purl.obolibrary.org/obo/PATO_0001672		
UBERON:0001457	biolink:AnatomicalEntity	skin of eyelid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001457		
UBERON:0001456	biolink:AnatomicalEntity	face			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001456		
UBERON:0001450	biolink:AnatomicalEntity	calcaneus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001450		
CHEBI:24676	biolink:ChemicalSubstance	hydroxybenzoic acid	Any benzoic acid carrying one or more phenolic hydroxy groups on the benzene ring.		mondo.json	hydroxybenzoic acid|hydroxybenzoic acids	http://purl.obolibrary.org/obo/CHEBI_24676		
CHEBI:24675	biolink:ChemicalSubstance	hydroxybenzoate	Any benzoate derivative carrying a single carboxylate group and at least one hydroxy substituent.		mondo.json	hydroxybenzoates	http://purl.obolibrary.org/obo/CHEBI_24675		
UBERON:0001437	biolink:AnatomicalEntity	epiphysis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001437		
UBERON:0001436	biolink:AnatomicalEntity	phalanx of manus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001436		
UBERON:0001438	biolink:AnatomicalEntity	metaphysis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001438		
PATO:0001688	biolink:NamedThing	increased elevation	An elevation which is relatively high.		mondo.json	elevated|high elevation	http://purl.obolibrary.org/obo/PATO_0001688		
PATO:0001689	biolink:NamedThing	decreased elevation	An elevation which is relatively low.		mondo.json	low elevation	http://purl.obolibrary.org/obo/PATO_0001689		
PATO:0001687	biolink:NamedThing	elevation	A positional quality inhering in a bearer by virtue of the bearer's vertical distance of a point above or below a reference surface.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001687		
HP:0030163	biolink:PhenotypicFeature	Abnormal vascular physiology	Abnormality of vascular function.	UMLS:C4022603	mondo.json		http://purl.obolibrary.org/obo/HP_0030163		
UBERON:0001444	biolink:AnatomicalEntity	subdivision of head			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001444		
UBERON:0001443	biolink:AnatomicalEntity	chest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001443		
UBERON:0001446	biolink:AnatomicalEntity	fibula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001446		
GO:0060606	biolink:NamedThing	tube closure	Creation of the central hole of a tube in an anatomical structure by sealing the edges of an epithelial fold.		mondo.json		http://purl.obolibrary.org/obo/GO_0060606		
UBERON:0001445	biolink:AnatomicalEntity	skeleton of pes			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001445		
UBERON:0001440	biolink:AnatomicalEntity	forelimb skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001440		
HGNC:8124	biolink:NamedThing	OGDH			mondo.json		http://identifiers.org/hgnc/8124		
UBERON:0001442	biolink:AnatomicalEntity	skeleton of manus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001442		
HGNC:8125	biolink:NamedThing	OGG1			mondo.json		http://identifiers.org/hgnc/8125		
UBERON:0001441	biolink:AnatomicalEntity	hindlimb skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001441		
GO:0033008	biolink:NamedThing	positive regulation of mast cell activation involved in immune response	Any process that activates or increases the frequency, rate, or extent of mast cell activation as part of an immune response.		mondo.json	positive regulation of mast cell activation during immune response	http://purl.obolibrary.org/obo/GO_0033008		
MONDO:0100440	biolink:Disease	Asperger syndrome, susceptibility to	An inherited susceptibility or predisposition to developing Asperger sydrome.	OMIMPS:608638	mondo.json		http://purl.obolibrary.org/obo/MONDO_0100440	https://omim.org/phenotypicSeries/PS608638	
GO:0033007	biolink:NamedThing	negative regulation of mast cell activation involved in immune response	Any process that stops, prevents, or reduces the frequency, rate, or extent of mast cell activation as part of an immune response.		mondo.json	negative regulation of mast cell activation during immune response	http://purl.obolibrary.org/obo/GO_0033007		
HGNC:16290	biolink:NamedThing	TRIM33			mondo.json		http://identifiers.org/hgnc/16290		
MONDO:0100441	biolink:Disease	GUCY2D-related dominant retinopathy	A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene.		mondo.json	CACD1|GUCY2D central areolar choroidal dystrophy|cone-rod dystrophy caused by mutation in GUCY2D|dominant GUCY2D retinopathy|cone-rod dystrophy type 6|GUCY2D cone-rod dystrophy|choroidal dystrophy, central areolar|central areolar choroidal dystrophy caused by mutation in GUCY2D|retinal cone dystrophy 2|choroidal dystrophy, central areolar, 1|choroidal sclerosis|RCD2|CORD6|cone-rod dystrophy 6	http://purl.obolibrary.org/obo/MONDO_0100441		
MONDO:0100442	biolink:Disease	RP2-related retinopathy	A retinopathy caused by variants in the X-linked gene, RP2.		mondo.json	retinitis pigmentosa caused by mutation in RP2|RP2 retinopathy|RP2 retinitis pigmentosa|retinitis pigmentosa type 2|retinitis pigmentosa 2|RP2	http://purl.obolibrary.org/obo/MONDO_0100442		
MONDO:0100443	biolink:Disease	RDH5-related retinopathy	A retinopathy caused by bialleleic variants in the RDH5 gene, often involving flecks in the retina.		mondo.json	retinitis punctata albescens|pigmentary retinal dystrophy|fundus albipunctatus|RDH5 retinopathy	http://purl.obolibrary.org/obo/MONDO_0100443		
MONDO:0100444	biolink:Disease	RLBP1-related retinopathy	A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina.		mondo.json	RLBP1 retinopathy|Newfoundland ROD-cone dystrophy|pigmentary retinal dystrophy|Bothnia retinal dystrophy|retinitis punctata albescens|fundus albipunctatus|NFRCD|RLBP1 cone-rod dystrophy|cone-rod dystrophy caused by mutation in RLBP1|Vasterbotten dystrophy|Newfoundland rod-cone dystrophy|Västerbotten dystrophy	http://purl.obolibrary.org/obo/MONDO_0100444		
GO:0008047	biolink:NamedThing	enzyme activator activity	Binds to and increases the activity of an enzyme.		mondo.json	metalloenzyme activator activity	http://purl.obolibrary.org/obo/GO_0008047		
MONDO:0100445	biolink:Disease	LCA5-related retinopathy	A retinopathy caused by biallelic variants in the LCA5 gene.		mondo.json	Leber congenital amaurosis caused by mutation in LCA5|Leber congenital amaurosis 5|amaurosis congenita of Leber, type 5|Leber congenital amaurosis type 5|LCA5|LCA5 Leber congenital amaurosis|LCA5 retinopathy	http://purl.obolibrary.org/obo/MONDO_0100445		
GO:0008046	biolink:NamedThing	axon guidance receptor activity	Combining with an extracellular messenger and transmitting the signal from one side of the membrane to the other to results in a change in cellular activity involved in axon guidance.		mondo.json	receptor activity involved in axon guidance	http://purl.obolibrary.org/obo/GO_0008046		
MONDO:0100446	biolink:Disease	CNGB3-related retinopathy	A retinopathy caused by biallelic variants in the CNGB3 gene.		mondo.json	RMCH1|CNGB3 achromatopsia|Rod monochromacy 1 (formerly)|achromatopsia caused by mutation in CNGB3|ACHM1 (formerly)|total colorblindness with myopia|rod monochromatism 1, formerly|ACHM1|rod monochromacy 1|RMCH1 (formerly)|achromatopsia type 3|ACHM3|Rod monochromatism 1 (formerly)|achromatopsia 3|CNGB3 retinopathy|achromatopsia with myopia|rod monochromatism 1|ACHM1, formerly|rod monochromacy 1, formerly	http://purl.obolibrary.org/obo/MONDO_0100446		
MONDO:0100447	biolink:Disease	ATF6-related retinopathy	A retinopathy caused by biallelic variants in the AFT6 gene.		mondo.json	ACHM7|ATF6 retinopathy|achromatopsia caused by mutation in ATF6|ATF6 achromatopsia|achromatopsia type 7|achromatopsia 7	http://purl.obolibrary.org/obo/MONDO_0100447		
MONDO:0100448	biolink:Disease	RAB28-related retinopathy	A retinopathy caused by biallelic variants in the RAB28 gene.		mondo.json	cone-rod dystrophy 18|RAB28 retinopathy|RAB28 cone-rod dystrophy|cone-rod dystrophy caused by mutation in RAB28|cone-rod dystrophy type 18|CORD18	http://purl.obolibrary.org/obo/MONDO_0100448		
MONDO:0100438	biolink:Disease	AIPL1-related retinopathy	A retinopathy caused by biallelic variants in the AIPL1 gene.		mondo.json	retinitis pigmentosa, juvenile, AIPL1-related|AIPL1 retinopathy|Leber congenital amaurosis 4|cone-rod dystrophy, AIPL1-related|cone-rod dystrophy|Leber congenital amaurosis caused by mutation in AIPL1|Leber congenital amaurosis type 4|retinitis pigmentosa, juvenile|amaurosis congenita of Leber, type 4|LCA4|AIPL1 Leber congenital amaurosis	http://purl.obolibrary.org/obo/MONDO_0100438		
MONDO:0100439	biolink:Disease	glycogen storage disease IXa2	Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes.		mondo.json	GSD IXa2|GSD9A2|liver glycogenosis, X-linked, type 2	http://purl.obolibrary.org/obo/MONDO_0100439		
CHEBI:58095	biolink:ChemicalSubstance	L-phenylalanine zwitterion	An amino acid zwitterion arising from transfer of a proton from the carboxy to the amino group of L-phenylalanine; major species at pH 7.3.		mondo.json	phenylalanine|L-phenylalanine|(2S)-2-ammonio-3-phenylpropanoate|(2S)-2-azaniumyl-3-phenylpropanoate	http://purl.obolibrary.org/obo/CHEBI_58095		
GO:0033006	biolink:NamedThing	regulation of mast cell activation involved in immune response	Any process that modulates the frequency, rate, or extent of mast cell activation as part of an immune response.		mondo.json	regulation of mast cell activation during immune response	http://purl.obolibrary.org/obo/GO_0033006		
GO:0033005	biolink:NamedThing	positive regulation of mast cell activation	Any process that activates or increases the frequency, rate, or extent of mast cell activation.		mondo.json		http://purl.obolibrary.org/obo/GO_0033005		
GO:0033004	biolink:NamedThing	negative regulation of mast cell activation	Any process that stops, prevents, or reduces the frequency, rate, or extent of mast cell activation.		mondo.json		http://purl.obolibrary.org/obo/GO_0033004		
GO:0033003	biolink:NamedThing	regulation of mast cell activation	Any process that modulates the frequency, rate, or extent of mast cell activation.		mondo.json		http://purl.obolibrary.org/obo/GO_0033003		
HGNC:16297	biolink:NamedThing	UPB1			mondo.json		http://identifiers.org/hgnc/16297		
GO:0033001	biolink:NamedThing	Fc-gamma receptor III complex	A protein complex composed of an Fc-gamma RIII alpha chain and an Fc-epsilon RI gamma chain dimer with or without an Fc-epsilon RI beta chain and additional signaling components. The complex functions primarily as an activating receptor for IgG.		mondo.json	immunoglobulin G receptor complex|IgG receptor complex|FcgRIII complex	http://purl.obolibrary.org/obo/GO_0033001		
HP:0005120	biolink:PhenotypicFeature	Abnormal cardiac atrium morphology	Any structural abnormality of a cardiac atrium.	UMLS:C4025246	mondo.json	Abnormality of cardiac atrium morphology|Abnormality of heart atrium	http://purl.obolibrary.org/obo/HP_0005120		
MONDO:0100450	biolink:Disease	CAPN5-related vitreoretinopathy	An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients.		mondo.json	retinitis proliferans|proliferative vitreoretinopathy|vitreoretinopathy, neovascular inflammatory, autosomal dominant|CAPN5 vitreoretinopathy|autosomal dominant neovascular inflammatory vitreoretinopathy|VRNI|ADNIV|vitreoretinopathy, neovascular inflammatory	http://purl.obolibrary.org/obo/MONDO_0100450		
MONDO:0100451	biolink:Disease	CEP290-related ciliopathy	A ciliopathy caused by biallelic variants in the CEP290 gene.		mondo.json	CEP290 Meckel syndrome|amaurosis congenita of Leber, type 10|Joubert syndrome 5|CEP290 Leber congenital amaurosis|MKS4|CEP290 ciliopathy|JBTS5|Meckel-Gruber syndrome, type 4|SLSN6|CEP290 Joubert syndrome|Meckel syndrome, type 4|Joubert syndrome type 5|Senior-Loken syndrome type 6|Leber congenital amaurosis type 10|Meckel syndrome caused by mutation in CEP290|LCA10|Meckel syndrome 4|Joubert syndrome caused by mutation in CEP290|Bardet-Biedl syndrome type 14|Senior-Loken syndrome caused by mutation in CEP290|Meckel-like Cerebrorenodigital syndrome|SENIOR-Loken syndrome 6|Leber congenital amaurosis 10|Leber congenital amaurosis caused by mutation in CEP290|Bardet-Biedl syndrome 14|BBS14|Senior-Loken syndrome 6|CEP290 Senior-Loken syndrome	http://purl.obolibrary.org/obo/MONDO_0100451		
MONDO:0100452	biolink:Disease	RPE65-related dominant retinopathy	A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene.		mondo.json	dominant RPE65 retinopathy|retinitis pigmentosa 87 with choroidal involvement|RP87	http://purl.obolibrary.org/obo/MONDO_0100452		
MONDO:0100453	biolink:Disease	GUCY2D-related recessive retinopathy	A retinopathy caused by biallelic variants in the GUCY2D gene.		mondo.json	CRB|Leber congenital amaurosis caused by mutation in GUCY2D|GUCY2D cone-rod dystrophy|cone-rod dystrophy type 6|LCA|night blindness, congenital stationary, type 1I|recessive GUCY2D retinopathy|amaurosis congenita of Leber, type 1|Leber congenital amaurosis 1|retinal cone dystrophy 2|amaurosis congenita of Leber I|RCD2|LCA1|amaurosis congenita of Leber 1|retinal blindness, congenital|CORD6|Leber congenital amaurosis type 1|cone-rod dystrophy 6|GUCY2D Leber congenital amaurosis|cone-rod dystrophy caused by mutation in GUCY2D	http://purl.obolibrary.org/obo/MONDO_0100453		
MONDO:0100454	biolink:Disease	GUCY2D retinopathy	Any inherited retinal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.		mondo.json	retinopathy caused by mutation in GUCY2D	http://purl.obolibrary.org/obo/MONDO_0100454		
MONDO:0100455	biolink:Disease	neonatal-onset developmental and epileptic encephalopathy	A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100455		
MONDO:0100456	biolink:Disease	neonatal encephalopathy with non-epileptic myoclonus	A disorder characterized onset at birth of profound encephalopathy with hypotonia, Respiratory insufficiency central hypoventilation, a persistent suppression burst pattern of EEG background, and recurrent bouts of myoclonus that are not accompanied by epileptic discharges on electroencephalography. Evolution to pharmacoresistant seizures is common and continued profound global developmental delay.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100456		
MONDO:0100457	biolink:Disease	achalasia, familial esophageal	An instance of achalsia that is caused by an inherited genomic modification in an individual.	UMLS:C1860213|OMIM:200400|MESH:C536011	mondo.json	achalasia, familial esophageal	http://purl.obolibrary.org/obo/MONDO_0100457	http://identifiers.org/mesh/C536011|https://omim.org/entry/200400|UMLS:C1860213	
HGNC:28287	biolink:NamedThing	ALG14			mondo.json		http://identifiers.org/hgnc/28287		
MONDO:0100458	biolink:Disease	MECOM-associated syndrome	Any syndrome in which the cause of the disease is a mutation in the MECOM gene. MECOM-associated syndrome has a variable phenotypic pattern, ranging from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormalities. The clinical picture can also include clinodactyly, cardiac and renal malformations, B-cell deficiency, amegakaryocytic thrombocytopenia, and presenile hearing loss.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100458		
MONDO:0100459	biolink:Disease	azoospermia	A male infertility disease characterized by the absence of any measurable level of sperm in semen.	EFO:0000279|ICD9:606.0|SCTID:425558002|UMLS:C0004509|MESH:D053713|DOID:14227	mondo.json		http://purl.obolibrary.org/obo/MONDO_0100459	UMLS:C0004509|DOID:14227|http://identifiers.org/mesh/D053713|http://identifiers.org/snomedct/425558002	
MONDO:0100449	biolink:Disease	FLVCR1-related retinopathy with or without ataxia	A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene.		mondo.json	ataxia, posterior column, with retinitis pigmentosa|FLVCR1 retinopathy with or without ataxia|posterior column ataxia with retinitis pigmentosa|posterior column ataxia-retinitis pigmentosa syndrome|AXPC1|autosomal recessive posterior column ataxia and retinitis pigmentosa|PCARP	http://purl.obolibrary.org/obo/MONDO_0100449		
HP:0005132	biolink:PhenotypicFeature	Pericardial constriction	Compression of the heart caused by rigid, thickened, or fused pericardial membranes.	UMLS:C0240709	mondo.json		http://purl.obolibrary.org/obo/HP_0005132		
MONDO:0100460	biolink:Disease	tobacco addiction, susceptibility to	An inherited susceptibility or predisposition to developing nicotine dependence.	OMIM:188890	mondo.json	cigarette habituation, susceptibility to|susceptibility to tobacco addiction|nicotine dependence, protection against|nicotine addiction, protection from|smoking habit, susceptibility to|nicotine addiction, susceptibility to|tobacco addiction, susceptibility to|nicotine dependence, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0100460	https://omim.org/entry/188890	
MONDO:0100461	biolink:Disease	obsolete gastrointestinal defects and immunodeficiency syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0100461		
MONDO:0100462	biolink:Disease	short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.	Orphanet:251262|OMIM:165800	mondo.json	SSOAOD|OD|osteochondritis dissecans and short stature|osteochondritis dissecans, short stature, and early-onset osteoarthritis	http://purl.obolibrary.org/obo/MONDO_0100462	https://omim.org/entry/165800|Orphanet:251262	
MONDO:0100463	biolink:Disease	methylmalonic aciduria and/or homocystinuria, cblD type	An autosomal recessive inborn disorder of cobalamin metabolism caused by biallelic variants in MMADHC. Depending on the type and location of variants in MMADHC, patients may present with methylmalonic aciduria, homocystinuria, or both. MMADHC has been reported to result in the cblD complementation group of cobalamin disorders.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100463		
MONDO:0100464	biolink:Disease	acid sphingomyelinase deficiency	An autosomal recessive lysosomal disease caused by biallelic loss of function variants in the SMPD1 gene. Clinical symptoms in affected individuals occur along a continuum. At the severe end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type A (the neurovisceral form), which is characterized by hepatosplenomegaly with rapid neurological deterioration leading to death in the first few years of life. At the milder end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type B, a later-onset, chronic visceral form, characterized by progressive visceral organ symptoms including hepatosplenomegaly and pulmonary insufficiency, and survival into adulthood. In addition, some affected individuals present with an intermediate phenotype, Niemann-Pick disease type A/B.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100464		
MONDO:0100465	biolink:Disease	complex neurodevelopmental disorder with or without congenital anomalies	A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), in addition to one or more structural or functional anomaly(ies) that develops prenatally.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100465		
MONDO:0100466	biolink:Disease	butterfly-shaped pigment dystrophy	A patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.	SCTID:725590001|Orphanet:99001|UMLS:C4511237	mondo.json	butterfly-shaped pattern dystrophy|butterfly-shaped pigment dystrophy|butterfly-shaped pigmentary macular dystrophy	http://purl.obolibrary.org/obo/MONDO_0100466	Orphanet:99001|http://identifiers.org/snomedct/725590001|UMLS:C4511237	ordo_disease
MONDO:0100467	biolink:Disease	preeclampsia/eclampsia 1		OMIM:189800	mondo.json	PEE1|hemolysis, elevated liver enzymes, and low platelet count|PREG1|hypertension, pregnancy-induced|toxemia of pregnancy|PREECLAMPSIA/eclampsia 1	http://purl.obolibrary.org/obo/MONDO_0100467	https://omim.org/entry/189800	
MONDO:0100468	biolink:Disease	Batten-Turner congenital myopathy	A congenital myopathy in which a family of 6 siblings presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy.	OMIM:255300	mondo.json		http://purl.obolibrary.org/obo/MONDO_0100468	https://omim.org/entry/255300	
MONDO:0100469	biolink:Disease	anosmia, isolated congenital, X-linked	X-linked form of anosmia, isolated congenital.	OMIM:301700	mondo.json		http://purl.obolibrary.org/obo/MONDO_0100469	https://omim.org/entry/301700	
NCBITaxon:118655	biolink:OrganismalEntity	Oropouche virus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_118655		
CHEBI:58072	biolink:ChemicalSubstance	carbon monoxide(1+)	Conjugate acid of carbon monoxide arising from protonation of the carbon; major species at pH 7.3.		mondo.json	methylidyneoxonium|CO(1+)|methylidyneoxidanium	http://purl.obolibrary.org/obo/CHEBI_58072		
MONDO:0100470	biolink:Disease	reactive airway disease	Coughing, wheezing, or shortness of breath that is triggered by allergens, infection, or other irritants.	SCTID:991000119106|NCIT:C113673	mondo.json	hyperactive airway disease|reactive airway disease (AQ)	http://purl.obolibrary.org/obo/MONDO_0100470	http://identifiers.org/snomedct/991000119106|NCIT:C113673	
MONDO:0100471	biolink:Disease	vitamin D deficiency	Abnormally low level of 25-hydroxyvitamin D in the blood.	NCIT:C114830|ICD9:268|EFO:0003762|HP:0100512|ICD10CM:E55|DOID:10574|SCTID:34713006|UMLS:C0042870|MESH:D014808	mondo.json	deficiency of vitamin D (disorder)|vitamin D deficiencies|vitamin D deficiency (disorder)|vitamin D insufficiency|avitaminosis D|deficiencies, vitamin D|vitamin D deficiency, NOS|deficiency, vitamin D|DEFIC VITAMIN D|VITAMIN D DEFIC|avitaminosis D, NOS	http://purl.obolibrary.org/obo/MONDO_0100471	UMLS:C0042870|http://purl.bioontology.org/ontology/ICD10CM/E55|NCIT:C114830|DOID:10574|http://identifiers.org/snomedct/34713006|http://identifiers.org/mesh/D014808	
HGNC:16280	biolink:NamedThing	TRIM36			mondo.json		http://identifiers.org/hgnc/16280		
MONDO:0100473	biolink:Disease	disorder of peptide and amine metabolism	An inherited metabolic disease that has its basis in the disruption of peptide and/or amine metabolic process.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100473		
MONDO:0100474	biolink:Disease	mild ichthyosis vulgaris	An instance of ichthyosis vulgaris in which the disease presentation is mild in severity. Heterozygote FLG mutation carriers often have mild manifestations.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100474		
GO:0035636	biolink:NamedThing	obsolete multi-organism signaling	OBSOLETE. The transfer of information between living organisms.		mondo.json	pheromone signaling|multi-organism signalling|signaling with other organism|signaling between organisms	http://purl.obolibrary.org/obo/GO_0035636		
MONDO:0100475	biolink:Disease	severe ichthyosis vulgaris	An instance of ichthyosis vulgaris in which the disease presentation is severe in severity. Homozygous FLG mutation carriers often have more severe manifestations.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100475		
GO:0035637	biolink:NamedThing	multicellular organismal signaling	The transfer of information occurring at the level of a multicellular organism.		mondo.json	multicellular organismal signalling	http://purl.obolibrary.org/obo/GO_0035637		
MONDO:0100476	biolink:Disease	lipodystrophy, partial, acquired, susceptibility to	An inherited susceptibility or predisposition to developing aquired partial lipodystrophy.	UMLS:C3887501|OMIM:608709	mondo.json	barraquer-simons syndrome|APLD, susceptibility to|lipodystrophy, cephalothoracic type|lipodystrophy, partial, acquired, susceptibility|lipodystrophy, partial, progressive	http://purl.obolibrary.org/obo/MONDO_0100476	UMLS:C3887501|https://omim.org/entry/608709	
GO:0008037	biolink:NamedThing	cell recognition	The process in which a cell in an organism interprets its surroundings.		mondo.json	recognition of surroundings by cell	http://purl.obolibrary.org/obo/GO_0008037		
MONDO:0100477	biolink:Disease	disorder of methylamine metabolism	An inherited metabolic disease that has its basis in the disruption of methylamine metabolic process.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100477		
MONDO:0100478	biolink:Disease	brain malformations with or without urinary tract defects	A brain disorder caused by pathogenic variants in NFIA that is characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100478		
MONDO:0100479	biolink:Disease	rifampicin-resistant tuberculosis	A form of drug-resistant tuberculosis that is resisant to rifampicin with or without resistance to other antitubercular medications.		mondo.json	RR-TB|rifampicin-resistant TB	http://purl.obolibrary.org/obo/MONDO_0100479		
HGNC:28261	biolink:NamedThing	TBCK			mondo.json		http://identifiers.org/hgnc/28261		
HP:0007773	biolink:PhenotypicFeature	Vitreoretinopathy	Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.	UMLS:C1850109	mondo.json	Vitreoretinal abnormality|Vitreoretinal degeneration	http://purl.obolibrary.org/obo/HP_0007773		
HGNC:16287	biolink:NamedThing	NFU1			mondo.json		http://identifiers.org/hgnc/16287		
MONDO:0100480	biolink:Disease	autoimmune primary adrenal insufficiency	Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands.	NCIT:C113814|Orphanet:85138	mondo.json	autoimmune adrenalitis|autoimmune Addison's disease	http://purl.obolibrary.org/obo/MONDO_0100480	NCIT:C113814|Orphanet:85138	
MONDO:0100481	biolink:Disease	active tuberculosis	Tuberculosis caused by primary infection of or reactivation of latent Mycobacterium tuberculosis. Active tuberculosis characterized by clinical manifestation and active symptoms compatible with tuberculosis, and is distinct from latent tuberculosis infection that occurs without signs or symptoms of active disease.		mondo.json	active TB	http://purl.obolibrary.org/obo/MONDO_0100481		
MONDO:0100482	biolink:Disease	extensively drug-resistant tuberculosis	A type of drug-resistant tuberculosis that is resistant to any fluoroquinolone, and at least one of three second-line injectable drugs (capreomycin, kanamycin, and amikacin), in addition to resistance to rifampicin and isoniazid.	MESH:D054908	mondo.json	XDR-TB	http://purl.obolibrary.org/obo/MONDO_0100482	http://identifiers.org/mesh/D054908	
MONDO:0100483	biolink:Disease	totally drug-resistant tuberculosis	A type of drug-resistant tuberculosis that is resistant to all first- and second-line antitubercular drugs tested (isoniazid, rifampicin, streptomycin, ethambutol, pyrazinamide, ethionamide, para-aminosalicylic acid, cycloserine, ofloxacin, amikacin, ciprofloxacin, capreomycin, kanamycin).		mondo.json	TDR-TB	http://purl.obolibrary.org/obo/MONDO_0100483		
MONDO:0100484	biolink:Disease	TSPAN12-related vitreoretinopathy	A vitreoretinopathy caused by variants in the TSPAN12 gene.		mondo.json	exudative vitreoretinopathy 5|TSPAN12 exudative vitreoretinopathy|exudative vitreoretinopathy caused by mutation in TSPAN12	http://purl.obolibrary.org/obo/MONDO_0100484		
MONDO:0100485	biolink:Disease	KCNH1 associated disorder	Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently.		mondo.json	KCNH1 related disorder	http://purl.obolibrary.org/obo/MONDO_0100485		
MONDO:0100486	biolink:Disease	adult acne	Acne that occurs in an adult.	OMIM:604324|MESH:C565791	mondo.json	acne, adult	http://purl.obolibrary.org/obo/MONDO_0100486	https://omim.org/entry/604324|http://identifiers.org/mesh/C565791	
MONDO:0100487	biolink:Disease	TPM4-related platelet disorder	A platelet disorder in which the cause of the disease is a variant in the TPM4 gene.		mondo.json	TPM4-related platelet dysfunction with or without thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0100487		
MONDO:0100488	biolink:Disease	CDH1-related diffuse gastric and lobular breast cancer	Germline pathogenic or likely pathogenic variants in the CDH1 gene predispose to hereditary diffuse gastric cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern, initially characterized by the increased risk for diffuse gastric cancer (DGC) but subsequently well documented to be associated with lobular breast cancer (LBC) in women.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100488		
MONDO:0100489	biolink:Disease	Graves disease, susceptibility to, 1		OMIM:275000	mondo.json	Graves disease, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0100489	https://omim.org/entry/275000	
HGNC:16257	biolink:NamedThing	TUBB1			mondo.json		http://identifiers.org/hgnc/16257		
HGNC:16252	biolink:NamedThing	SUN5			mondo.json		http://identifiers.org/hgnc/16252		
HGNC:16255	biolink:NamedThing	TGM6			mondo.json		http://identifiers.org/hgnc/16255		
MONDO:0100490	biolink:Disease	breasts and/or nipples, aplasia or hypoplasia of, 1		OMIM:113700	mondo.json	breasts and/or nipples, aplasia or hypoplasia of, 1|athelia|BNAH1|amastia|amazia	http://purl.obolibrary.org/obo/MONDO_0100490	https://omim.org/entry/113700	
HGNC:16262	biolink:NamedThing	YAP1			mondo.json		http://identifiers.org/hgnc/16262		
MONDO:0100491	biolink:Disease	generalized pustular psoriasis	A rare and extreme form of psoriasis characterized by the appearance of sterile pustules which can take many patterns. All the main pathological features of the disease are accentuated. Generalized pustular psoriasis is clinically heterogeneous in its age at onset, precipitants, severity, and natural history. Many overlapping clinical entities are recognized. There is a relationship between these entities and plaque psoriasis, as some individuals may have episodes of plaque psoriasis preceding or following the generalized pustular psoriasis, but in others generalized pustular psoriasis occurs as the sole phenotype without plaque psoriasis at any time.	SCTID:238612002|UMLS:C0343055|ICD10CM:L40.1	mondo.json		http://purl.obolibrary.org/obo/MONDO_0100491	http://purl.bioontology.org/ontology/ICD10CM/L40.1|http://identifiers.org/snomedct/238612002|UMLS:C0343055	
MONDO:0100492	biolink:Disease	Bonnevie-Ullrich syndrome	A genetic syndrome which occurs in females. It is caused by the inheritance of only one complete X chromosome (45, X). Clinical signs of the symmetrical form are identical to those of Turner syndrome and include bilateral webbing of the neck and edema of the extremities. Clinical characteristics include decreased stature and under-developed sexual organs. Patients usually have a normal life expectancy.	DOID:3491|NCIT:C34434|GARD:0007831	mondo.json	Bonnevie-Ulrich syndrome|Bonnevie-Ullrich syndrome	http://purl.obolibrary.org/obo/MONDO_0100492	NCIT:C34434	
MONDO:0100493	biolink:Disease	autosomal recessive titinopathy	Autosomal recessive form of TTN-related myopathy.		mondo.json	TTN-related myopathy, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0100493		
MONDO:0100494	biolink:Disease	autosomal dominant titinopathy	Autosomal dominant form of TTN-related myopathy.		mondo.json	TTN-related myopathy, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0100494		
MONDO:0100495	biolink:Disease	autosomal recessive distal titinopathy	A rare myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs. Described as a more severe tibial muscular dystrophy phenotype, distal titinopathy is associated with earlier onset and progression to include soleus muscle and proximal muscles.		mondo.json	distal titinopathy	http://purl.obolibrary.org/obo/MONDO_0100495		
MONDO:0100496	biolink:Disease	Emery-Dreifuss-like muscular dystrophy	A rare inherited muscular dystrophy characterized by the coexistence of limb-girdle weakness and early-onset diffuse joint contractures without cardiomyopathy.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100496		
GO:0008016	biolink:NamedThing	regulation of heart contraction	Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process in which the heart decreases in volume in a characteristic way to propel blood through the body.		mondo.json	regulation of cardiac contraction	http://purl.obolibrary.org/obo/GO_0008016		
MONDO:0100497	biolink:Disease	titinopathy with congenital contractures	A prenatal/infant-onset muscle disorder characterized by limb contractures, muscle weakness (often with significant axial involvement), long bone fractures, and/or cardiac abnormalities.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100497		
MONDO:0100498	biolink:Disease	UROD-related inherited porphyria	Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the UROD gene.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100498		
GO:0008015	biolink:NamedThing	blood circulation	The flow of blood through the body of an animal, enabling the transport of nutrients to the tissues and the removal of waste products.		mondo.json	hemolymph circulation	http://purl.obolibrary.org/obo/GO_0008015		
HGNC:28249	biolink:NamedThing	PHYKPL			mondo.json		http://identifiers.org/hgnc/28249		
NCBITaxon:299467	biolink:OrganismalEntity	Leptotrombidium deliense		GC_ID:1	mondo.json	scrub typhus mite	http://purl.obolibrary.org/obo/NCBITaxon_299467		
HGNC:16268	biolink:NamedThing	PNPLA6			mondo.json		http://identifiers.org/hgnc/16268		
HGNC:16266	biolink:NamedThing	SLC19A3			mondo.json		http://identifiers.org/hgnc/16266		
HGNC:28213	biolink:NamedThing	PIGY			mondo.json		http://identifiers.org/hgnc/28213		
HGNC:28216	biolink:NamedThing	COX14			mondo.json		http://identifiers.org/hgnc/28216		
CHEBI:61655	biolink:ChemicalSubstance	steroid saponin	Any saponin derived from a hydroxysteroid.		mondo.json	steroid glycosides|steroidal glycoside|glycosteroid|steryl glycosides|steryl glycoside|glycosteroids|steroidal glycosides|steroid glycoside|sterol glycoside|glycosyl steroid|glycosyl steroids|sterol glycosides|steroid saponins	http://purl.obolibrary.org/obo/CHEBI_61655		
HGNC:16232	biolink:NamedThing	COX4I2			mondo.json		http://identifiers.org/hgnc/16232		
HGNC:16243	biolink:NamedThing	MYLK2			mondo.json		http://identifiers.org/hgnc/16243		
NCBITaxon:11620	biolink:OrganismalEntity	Lassa mammarenavirus		GC_ID:1	mondo.json	Lassa virus	http://purl.obolibrary.org/obo/NCBITaxon_11620		
HGNC:8091	biolink:NamedThing	OAT			mondo.json		http://identifiers.org/hgnc/8091		
MONDO:0002057	biolink:Disease	breast leiomyoma	A well-circumscribed benign smooth muscle neoplasm arising from the breast. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	NCIT:C40399|UMLS:C1511317|DOID:1623	mondo.json	breast leiomyoma|leiomyoma of breast	http://purl.obolibrary.org/obo/MONDO_0002057	DOID:1623|NCIT:C40399|UMLS:C1511317	
MONDO:0002058	biolink:Disease	breast adenoma	A benign, well circumscribed neoplasm that arises from the breast. Representative examples include apocrine adenoma, tubular adenoma, and pleomorphic adenoma.	UMLS:C1328385|DOID:1625|NCIT:C40382	mondo.json	breast adenoma|Ademoma - breast	http://purl.obolibrary.org/obo/MONDO_0002058	DOID:1625|NCIT:C40382|UMLS:C1328385	
MONDO:0002059	biolink:Disease	obsolete breast duct papilloma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002059		
NCBITaxon:11623	biolink:OrganismalEntity	Lymphocytic choriomeningitis mammarenavirus		GC_ID:1	mondo.json	Lymphocytic choriomeningitis virus|lymphocytic choriomeningitis virus LCMV|LCMV	http://purl.obolibrary.org/obo/NCBITaxon_11623		
MONDO:0002053	biolink:Disease	obsolete hypoglycemic coma		UMLS:C0020617|ICD9:251.0|HP:0001325|DOID:1607|SCTID:267384006	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002053	DOID:1607|UMLS:C0020617|http://identifiers.org/snomedct/267384006	
UBERON:2001053	biolink:AnatomicalEntity	future internal carotid artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_2001053		
MONDO:0002054	biolink:Disease	obsolete breast cancer			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002054		
MONDO:0002055	biolink:Disease	benign eccrine breast spiradenoma	A very rare, benign sweat gland neoplasm that affects the breast. It is characterized by the proliferation of basaloid epithelial cells.	DOID:1616|UMLS:C1332492|NCIT:C5193	mondo.json	benign eccrine spiradenoma of breast|benign eccrine spiradenoma of the breast|benign eccrine breast spiradenoma|benign breast eccrine spiradenoma	http://purl.obolibrary.org/obo/MONDO_0002055	NCIT:C5193|DOID:1616|UMLS:C1332492	
NCBITaxon:11628	biolink:OrganismalEntity	Machupo mammarenavirus		GC_ID:1	mondo.json	Machupo virus	http://purl.obolibrary.org/obo/NCBITaxon_11628		
MONDO:0002056	biolink:Disease	breast fibroadenoma	A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported.	SCTID:254847007|DOID:1618|NCIT:C3744|ONCOTREE:FA|UMLS:C0206650|UMLS:C0178421|ICDO:9010/0|EFO:1000254|UMLS:C0346158|MESH:D018226	mondo.json	fibroadenoma|fibroadenoma, benign|cellular fibroadenoma|fibroadenoma of breast|fibroadenoma of the breast|juvenile fibroadenoma of breast|juvenile fibroadenoma (morphologic abnormality)|breast fibroadenoma|juvenile fibroadenoma|FA|Complex fibroadenoma of breast	http://purl.obolibrary.org/obo/MONDO_0002056	http://identifiers.org/mesh/D018226|DOID:1618|UMLS:C0346158|UMLS:C0178421|NCIT:C3744|http://identifiers.org/snomedct/254847007|UMLS:C0206650	
GO:0060590	biolink:NamedThing	ATPase regulator activity	Binds to and modulates the activity of an ATP hydrolysis activity.		mondo.json	ATP hydrolysis regulator activity	http://purl.obolibrary.org/obo/GO_0060590		
GO:0060591	biolink:NamedThing	chondroblast differentiation	The process in which a mesenchymal cell, acquires specialized structural and/or functional features of a chondroblast. Differentiation includes the processes involved in commitment of a cell to a chondroblast fate. A chondroblast is a precursor cell to chondrocytes.		mondo.json	chondrocyte progenitor cell differentiation	http://purl.obolibrary.org/obo/GO_0060591		
MONDO:0002050	biolink:Disease	depressive disorder	A melancholy feeling of sadness and despair.	SCTID:35489007|NCIT:C2982|ICD10CM:F32|MFOMD:0000013|MESH:D003866|UMLS:CN236658|DOID:1596|ICD9:311	mondo.json	melancholias|depression|syndromes, depressive|syndrome, depressive|melancholia|mental depression	http://purl.obolibrary.org/obo/MONDO_0002050	http://identifiers.org/mesh/D003866|NCIT:C2982|http://identifiers.org/snomedct/35489007|http://purl.bioontology.org/ontology/ICD10CM/F32|UMLS:CN236658|DOID:1596	
HP:0007707	biolink:PhenotypicFeature	Congenital aphakia	Absence of the crystalline lens of the eye as a result of a developmental defect.	MSH:C537786|UMLS:C1853230	mondo.json	Lens agenesis	http://purl.obolibrary.org/obo/HP_0007707		
MONDO:0002051	biolink:Disease	integumentary system disorder	A disease involving the integumental system.	SCTID:128598002|DOID:16|UMLS:C1290011	mondo.json	disorder of integumental system|disorder of integument|integumental system disease|disease or disorder of integumental system|disease of integumental system|integumentary disease|integumental system disease or disorder	http://purl.obolibrary.org/obo/MONDO_0002051	UMLS:C1290011|DOID:16|http://identifiers.org/snomedct/128598002	
MONDO:0002052	biolink:Disease	lymphadenitis	Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process.	HP:0002840|UMLS:C0024205|UMLS:C0157705|ICD9:683|MESH:D008199|DOID:1602|UMLS:C0154304|ICD9:289.1|SCTID:41174002|NCIT:C26821	mondo.json	chronic lymphadenitis|Inflammation of lymph node|acute adenitis|acute lymphadenitis|lymph node inflammation|inflammation of lymph node|lymphadenitis|chronic adenitis|lymph gland infection|lymphadenitis (disease)|adenitis|lymph nodeitis	http://purl.obolibrary.org/obo/MONDO_0002052	UMLS:C0154304|DOID:1602|NCIT:C26821|http://identifiers.org/mesh/D008199|UMLS:C0024205|UMLS:C0157705|http://identifiers.org/snomedct/41174002	
MONDO:0014049	biolink:Disease	urofacial syndrome 2	Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene.	OMIM:615112|UMLS:C3554520	mondo.json	LRIG2 Ochoa syndrome|Ochoa syndrome caused by mutation in LRIG2|urofacial syndrome 2|UFS2|urofacial syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0014049	UMLS:C3554520|https://omim.org/entry/615112	
MONDO:0014048	biolink:Disease	Cowden syndrome 6	Any Cowden disease in which the cause of the disease is a mutation in the AKT1 gene.	UMLS:C3554519|OMIM:615109	mondo.json	Cowden syndrome 6|AKT1 Cowden disease|CWS6|Cowden disease caused by mutation in AKT1|Cowden syndrome type 6	http://purl.obolibrary.org/obo/MONDO_0014048	https://omim.org/entry/615109|UMLS:C3554519	
MONDO:0014047	biolink:Disease	Cowden syndrome 5	Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene.	UMLS:C3554518|OMIM:615108	mondo.json	PIK3CA Cowden disease|Cowden disease caused by mutation in PIK3CA|Cowden syndrome 5|Cowden syndrome type 5|CWS5	http://purl.obolibrary.org/obo/MONDO_0014047	https://omim.org/entry/615108|UMLS:C3554518	
HP:0007700	biolink:PhenotypicFeature	Ocular anterior segment dysgenesis	Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin.	UMLS:C0266525|SNOMEDCT_US:65075004	mondo.json	Anterior chamber cleavage disorder|Anterior segment developmental abnormality|Anterior chamber mesodermal anomalies|Anterior segment mesencyhmal dysgenesis|Anterior chamber malformation|Anterior segment dysgenesis|Anterior segment ocular dysgenesis|Anterior chamber cleavage defect	http://purl.obolibrary.org/obo/HP_0007700		
MONDO:0041656	biolink:Disease	ST-elevation myocardial infarction	A very serious type of heart attack during which one of the heart’s major arteries (one of the arteries that supplies oxygen and nutrient-rich blood to the heart muscle) is blocked. ST-segment elevation is an abnormality detected on the 12-lead ECG.	SCTID:401303003|MESH:D000072657|EFO:0008585	mondo.json	ST segment elevation myocardial infarction|STEMI|acute-ST segment elevation myocardial infarction	http://purl.obolibrary.org/obo/MONDO_0041656	http://identifiers.org/snomedct/401303003|http://identifiers.org/mesh/D000072657	
MONDO:0014042	biolink:Disease	left ventricular noncompaction 7	Any left ventricular noncompaction in which the cause of the disease is a mutation in the MIB1 gene.	UMLS:C3554496|OMIM:615092	mondo.json	MIB1 left ventricular noncompaction|left ventricular noncompaction type 7|left ventricular noncompaction 7|LVNC7|left ventricular noncompaction caused by mutation in MIB1	http://purl.obolibrary.org/obo/MONDO_0014042	https://omim.org/entry/615092|UMLS:C3554496	
MONDO:0014041	biolink:Disease	autism, susceptibility to, 19		OMIM:615091	mondo.json	AUTS19|autism, susceptibility to, type 19|susceptibility to autism 19|autism, susceptibility to, 19	http://purl.obolibrary.org/obo/MONDO_0014041	https://omim.org/entry/615091	predisposition
MONDO:0014040	biolink:Disease	autosomal recessive osteopetrosis 8	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene.	UMLS:C3554478|OMIM:615085|NCIT:C150556|DOID:0110940	mondo.json	SNX10 autosomal recessive osteopetrosis|SNX10 autosomal recessive malignant osteopetrosis|osteopetrosis, autosomal recessive 8|OPTB8|autosomal recessive osteopetrosis caused by mutation in SNX10|autosomal recessive malignant osteopetrosis caused by mutation in SNX10|osteopetrosis, autosomal recessive type 8|autosomal recessive osteopetrosis type 8	http://purl.obolibrary.org/obo/MONDO_0014040	NCIT:C150556|https://omim.org/entry/615085|UMLS:C3554478|DOID:0110940	
MONDO:0014046	biolink:Disease	Cowden syndrome 4	Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene.	UMLS:C3554517|OMIM:615107	mondo.json	Cowden syndrome 4|KLLN Cowden disease|Cowden syndrome type 4|Cowden disease caused by mutation in KLLN|CWS4	http://purl.obolibrary.org/obo/MONDO_0014046	https://omim.org/entry/615107|UMLS:C3554517	
MONDO:0014045	biolink:Disease	Cowden syndrome 3	Any Cowden disease in which the cause of the disease is a mutation in the SDHD gene.	UMLS:C3554516|OMIM:615106	mondo.json	CWS3|Cowden syndrome 3|Cowden disease caused by mutation in SDHD|Cowden syndrome type 3|SDHD Cowden disease	http://purl.obolibrary.org/obo/MONDO_0014045	https://omim.org/entry/615106	
MONDO:0014044	biolink:Disease	dysmorphism-conductive hearing loss-heart defect syndrome	A syndrome characterized by distinctive facial features, cleft palate, conductive hearing loss, and mild developmental delay. The craniofacial dysmorphism included low frontal hairline, ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, and low-set, posteriorly rotated small ears.	SCTID:763279007|UMLS:C3554774|Orphanet:289553|OMIM:615102	mondo.json	TYSHCHENKO syndrome	http://purl.obolibrary.org/obo/MONDO_0014044	Orphanet:289553|http://identifiers.org/snomedct/763279007|https://omim.org/entry/615102|UMLS:C3554774	ordo_malformation_syndrome
MONDO:0014043	biolink:Disease	microcephalic primordial dwarfism due to ZNF335 deficiency	Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.	DOID:0070294|UMLS:C3554499|UMLS:C4510378|OMIM:615095|Orphanet:329228|SCTID:724141003	mondo.json	MCPH10|microcephalic primordial dwarfism, Walsh type|primary autosomal recessive microcephaly 10|microcephaly 10, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0014043	UMLS:C4510378|DOID:0070294|Orphanet:329228|http://identifiers.org/snomedct/724141003|https://omim.org/entry/615095|UMLS:C3554499	ordo_malformation_syndrome
MONDO:0002068	biolink:Disease	female breast lower-inner quadrant cancer		DOID:1649|SCTID:188153009|ICD10CM:C50.3|ICD9:174.3|UMLS:C0153551	mondo.json	malignant neoplasm of lower-inner quadrant of female breast	http://purl.obolibrary.org/obo/MONDO_0002068	DOID:1649|http://identifiers.org/snomedct/188153009|http://purl.bioontology.org/ontology/ICD10CM/C50.3|UMLS:C0153551	
MONDO:0002069	biolink:Disease	female breast axillary tail cancer	A cancer that involves the UBERON:0035289.	UMLS:C0153554|ICD10CM:C50.6|SCTID:188156001|ICD9:174.6|DOID:1650	mondo.json	malignant neoplasm of axillary tail of breast|malignant axillary tail of breast neoplasm|axillary tail of breast cancer|cancer of axillary tail of breast|malignant neoplasm of axillary tail of female breast	http://purl.obolibrary.org/obo/MONDO_0002069	DOID:1650|http://purl.bioontology.org/ontology/ICD10CM/C50.6|UMLS:C0153554|http://identifiers.org/snomedct/188156001	
NCBITaxon:11632	biolink:OrganismalEntity	Retroviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_11632		
MONDO:0002064	biolink:Disease	breast angiomatosis	A benign diffuse vascular proliferation in the breast. It is characterized by the formation of capillary-sized and cavernous vascular spaces.	DOID:1637|UMLS:C1511284|NCIT:C40381	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002064	DOID:1637|NCIT:C40381|UMLS:C1511284	
MONDO:0002065	biolink:Disease	benign breast adenomyoepithelioma	A benign, nodular tumor that arises from the breast parenchyma. It is characterized by the proliferation of myoepithelial cells around spaces that are lined by epithelial cells. Occasionally, adenomyoepitheliomas may undergo malignant transformation.	NCIT:C5144|UMLS:C1332477|DOID:1641	mondo.json	benign adenomyoepithelioma of the breast|benign breast adenomyoepithelioma|breast adenomyoepithelioma, benign|benign adenomyoepithelioma of breast	http://purl.obolibrary.org/obo/MONDO_0002065	DOID:1641|UMLS:C1332477|NCIT:C5144	
MONDO:0002066	biolink:Disease	breast adenomyoepithelioma	A usually benign tumor arising from the breast. It is characterized by the proliferation of cells with myoepithelial differentiation around spaces which are lined by epithelial cells. Rarely, the epithelial and/or myoepithelial cells may undergo malignant transformation. Cases with malignant transformation may follow an aggressive clinical course, including recurrences and local and distant metastases.	ICDO:8983/0|UMLS:C1510795|ONCOTREE:BRAME|DOID:1642|NCIT:C6899	mondo.json	breast adenomyoepithelioma with malignant change|breast adenomyoepithelioma|BRAME|malignant adenomyoepithelioma of breast|adenomyoepithelioma of the breast	http://purl.obolibrary.org/obo/MONDO_0002066	UMLS:C1510795|NCIT:C6899|DOID:1642	
MONDO:0002067	biolink:Disease	female breast upper-inner quadrant cancer		DOID:1647|ICD10CM:C50.2|ICD9:174.2|SCTID:188152004|UMLS:C0153550	mondo.json	malignant neoplasm of upper-inner quadrant of female breast	http://purl.obolibrary.org/obo/MONDO_0002067	DOID:1647|http://purl.bioontology.org/ontology/ICD10CM/C50.2|UMLS:C0153550|http://identifiers.org/snomedct/188152004	
MONDO:0002060	biolink:Disease	intraductal papilloma	An intraluminal papillary epithelial neoplasm arising within the ducts. Representative examples are the intraductal breast papilloma and the salivary gland intraductal papilloma.	NCIT:C3785|UMLS:C0206713|ICDO:8503/0|MESH:D018300|DOID:1627	mondo.json	ductal papilloma|duct adenoma|duct papilloma|intraductal papilloma (morphologic abnormality)|intraductal papilloma	http://purl.obolibrary.org/obo/MONDO_0002060	NCIT:C3785|UMLS:C0206713|http://identifiers.org/mesh/D018300|DOID:1627	
MONDO:0002061	biolink:Disease	intraductal papillary breast neoplasm	A benign or malignant papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by epithelial proliferations. This category includes intraductal papilloma and intraductal papillary carcinoma.	NCIT:C36090|UMLS:C1334252|DOID:1628	mondo.json	intraductal papillary breast neoplasm	http://purl.obolibrary.org/obo/MONDO_0002061	NCIT:C36090|UMLS:C1334252|DOID:1628	
MONDO:0002062	biolink:Disease	breast myofibroblastoma	A myofibroblastoma occurring in the breast of both women and men. It presents as a slowly growing mass.	NCIT:C40397|UMLS:C1511320|DOID:1629	mondo.json	breast myofibroblastoma	http://purl.obolibrary.org/obo/MONDO_0002062	NCIT:C40397|UMLS:C1511320|DOID:1629	
MONDO:0002063	biolink:Disease	breast papillomatosis	A benign breast neoplasm characterized by the proliferation of multiple papillomas.	NCIT:C6977|DOID:1634|UMLS:C1332636	mondo.json	papillomatosis of the breast|papillomatosis of breast|breast papillomatosis	http://purl.obolibrary.org/obo/MONDO_0002063	UMLS:C1332636|DOID:1634|NCIT:C6977	
MONDO:0014039	biolink:Disease	mitochondrial DNA depletion syndrome 11	Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.	OMIM:615084|Orphanet:352447|DOID:0080129|UMLS:C3554462	mondo.json	MTDPS11|PEO-myopathy-emaciation syndrome|mitochondrial DNA depletion syndrome caused by mutation in MGME1|mtDNA maintenance syndrome due to MGME1 deficiency|mitochondrial DNA depletion syndrome type 11|mitochondrial DNA maintenance syndrome due to MGME1 deficiency|progressive external ophthalmoplegia-myopathy-emaciation syndrome|MGME1 mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome 11	http://purl.obolibrary.org/obo/MONDO_0014039	https://omim.org/entry/615084|UMLS:C3554462|Orphanet:352447|DOID:0080129	ordo_disease
MONDO:0014038	biolink:Disease	colorectal cancer, susceptibility to, 12	Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene.	OMIM:615083	mondo.json	colorectal cancer caused by mutation in POLE|CRCS12|colorectal cancer, susceptibility to, type 12|POLE colorectal cancer|susceptibility to colorectal cancer 12|colorectal cancer, susceptibility to, 12|colorectal cancer, susceptibility to, on chromosome 12Q24	http://purl.obolibrary.org/obo/MONDO_0014038	https://omim.org/entry/615083	predisposition
MONDO:0014037	biolink:Disease	spermatogenic failure 11	Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene.	UMLS:C3554453|DOID:0070180|OMIM:615081	mondo.json	azoospermia caused by mutation in KLHL10|spermatogenic failure 11|SPGF11|KLHL10 azoospermia|spermatogenic failure type 11	http://purl.obolibrary.org/obo/MONDO_0014037	UMLS:C3554453|DOID:0070180|https://omim.org/entry/615081	
MONDO:0014036	biolink:Disease	Alzheimer disease 17	An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2.	DOID:0110049|UMLS:C3554452|OMIM:615080	mondo.json	AD17|Alzheimer disease 17, late onset|Alzheimer disease 17, late-onset|Alzheimer's disease type 17|Alzheimer's disease 17|Alzheimer disease 17	http://purl.obolibrary.org/obo/MONDO_0014036	UMLS:C3554452|DOID:0110049|https://omim.org/entry/615080	
MONDO:0016698	biolink:Disease	ependymoma	A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO)	ONCOTREE:EPM|UMLS:C0014474|GARD:0006353|MedDRA:10014967|NCIT:C3017|MESH:D004806|UMLS:CN201941|DOID:4844|ICDO:9391/3|Orphanet:251636	mondo.json	tanycytic ependymoma (histologic variant)|papillary ependymoma (histologic variant)|WHO grade II ependymal neoplasm|benign ependymoma|WHO grade II ependymal tumor|ependymoma|ependymoma, familial|ependymoma, benign|clear cell ependymoma (histologic variant)|epithelial ependymoma	http://purl.obolibrary.org/obo/MONDO_0016698	Orphanet:251636|NCIT:C3017|http://identifiers.org/mesh/D004806|UMLS:C0014474|UMLS:CN201941|DOID:4844	ordo_histopathological_subtype
MONDO:0016699	biolink:Disease	myxopapillary ependymoma	Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population.	ONCOTREE:MPE|DOID:5075|Orphanet:251643|ICDO:9394/1|GARD:0010633|OMIM:137800|MESH:D004806|NCIT:C3697|UMLS:C0205769	mondo.json	myxopapillary ependymoma|ependymoma, benign|myxopapillary ependymoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0016699	UMLS:C0205769|Orphanet:251643|NCIT:C3697|DOID:5075	gard_rare|ordo_histopathological_subtype
GO:0060589	biolink:NamedThing	nucleoside-triphosphatase regulator activity	Binds to and modulates the activity of an NTPase.		mondo.json	NTPase regulator activity	http://purl.obolibrary.org/obo/GO_0060589		
MONDO:0014031	biolink:Disease	microcephalic primordial dwarfism, Alazami type	Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.	Orphanet:319671|OMIM:615071|UMLS:C3554439	mondo.json	ALAZS|Alazami syndrome|facial dysmorphism, intellectual disability, and primordial dwarfism	http://purl.obolibrary.org/obo/MONDO_0014031	Orphanet:319671|https://omim.org/entry/615071|UMLS:C3554439	ordo_malformation_syndrome
MONDO:0016694	biolink:Disease	obsolete Pituicytoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016694		
MONDO:0014030	biolink:Disease	primary ciliary dyskinesia 20	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene.	UMLS:C3540844|DOID:0110625|OMIM:615067	mondo.json	primary ciliary dyskinesia type 20|CCDC114 primary ciliary dyskinesia|ciliary dyskinesia, primary, 20|primary ciliary dyskinesia 20 with or without situs inversus|ciliary dyskinesia, primary, 20, with or without situs inversus|primary ciliary dyskinesia caused by mutation in CCDC114|CILD20|ciliary dyskinesia, primary, type 20	http://purl.obolibrary.org/obo/MONDO_0014030	UMLS:C3540844|https://omim.org/entry/615067|DOID:0110625	
MONDO:0016695	biolink:Disease	oligodendroglioma	A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)	GARD:0009953|Orphanet:251627|OMIM:137800|ICDO:9450/3|DOID:3181|OMIM:616568|NCIT:C3288|MedDRA:10030286|MESH:D009837|ONCOTREE:ODG	mondo.json	WHO grade II oligodendroglial tumor|well differentiated oligodendroglioma|WHO grade II oligodendroglial neoplasm|oligodendroglioma|well differentiated oligodendroglial tumor|oligodendroglial neoplasm|oligodendroglial tumor	http://purl.obolibrary.org/obo/MONDO_0016695	Orphanet:251627|NCIT:C3288|http://identifiers.org/mesh/D009837|DOID:3181	ordo_disease
MONDO:0016696	biolink:Disease	anaplastic oligodendroglioma	A WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity).	OMIM:137800|NCIT:C4326|ICDO:9451/3|MedDRA:10026659|Orphanet:251630|EFO:0002501|GARD:0009472|OMIM:616568|UMLS:C0334590|ONCOTREE:AODG	mondo.json	oligodendroglioma, malignant|oligodendroglioma, anaplastic, malignant|anaplastic oligodendroglioma|undifferentiated oligodendroglioma|WHO grade III oligodendroglial neoplasm|WHO grade III oligodendroglial tumor|malignant oligodendroglioma	http://purl.obolibrary.org/obo/MONDO_0016696	Orphanet:251630|NCIT:C4326|UMLS:C0334590	ordo_disease|gard_rare
MONDO:0016697	biolink:Disease	low grade ependymoma		Orphanet:251633|UMLS:CN201940	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016697	Orphanet:251633|UMLS:CN201940	ordo_disease
MONDO:0016690	biolink:Disease	pleomorphic xanthoastrocytoma	A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults.	UMLS:C0334586|ONCOTREE:PXA|GARD:0010631|DOID:4852|ICDO:9424/3|Orphanet:251607|NCIT:C4323	mondo.json	pleomorphic Xantho-astrocytoma|PXA	http://purl.obolibrary.org/obo/MONDO_0016690	NCIT:C4323|UMLS:C0334586|DOID:4852|Orphanet:251607	ordo_disease|gard_rare
MONDO:0014035	biolink:Disease	severe intellectual disability-progressive spastic diplegia syndrome	Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person.	UMLS:C3554449|OMIM:615075|Orphanet:404473|ICD10CM:G11.4|GARD:0003505|DOID:0070049	mondo.json	intellectual disability, autosomal dominant type 19|MRD19|mental retardation, autosomal dominant 19|intellectual disability, autosomal dominant 19|autosomal dominant mental retardation 19|neurodevelopmental disorder with spastic diplegia and visual defects|autosomal dominant intellectual disability 19|severe intellectual disability-progressive spastic diplegia syndrome|autosomal dominant non-syndromic intellectual disability 19|CTNNB1-related intellectual disability|mental retardation, autosomal dominant type 19	http://purl.obolibrary.org/obo/MONDO_0014035	Orphanet:404473|DOID:0070049|https://omim.org/entry/615075|UMLS:C3554449	gard_rare|ordo_malformation_syndrome
MONDO:0016691	biolink:Disease	pilocytic astrocytoma	Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but ocurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported.	NCIT:C4047|Orphanet:251612|SCTID:763865009|UMLS:C0334583|GARD:0009808|DOID:4851|ONCOTREE:PAST|ICDO:9421/1	mondo.json	Piloid astrocytoma|grade I astrocytic neoplasm|astrocytoma, pilocytic, benign|astrocytoma, benign|grade I astrocytic tumor|grade I astrocytoma|pilocytic astrocytoma	http://purl.obolibrary.org/obo/MONDO_0016691	Orphanet:251612|UMLS:C0334583|http://identifiers.org/snomedct/763865009|DOID:4851|NCIT:C4047	ordo_disease
MONDO:0014034	biolink:Disease	severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3.	UMLS:C3554448|OMIM:615074|GARD:0012815|Orphanet:363686|DOID:0070048	mondo.json	mental retardation, autosomal dominant type 18|intellectual disability, autosomal dominant type 18|GATAD2B-associated neurodevelopmental disorder|MRD18|mental retardation, autosomal dominant 18|GAND syndrome|severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome|autosomal dominant intellectual disability 18|autosomal dominant mental retardation 18|intellectual disability, autosomal dominant 18|autosomal dominant non-syndromic intellectual disability 18	http://purl.obolibrary.org/obo/MONDO_0014034	DOID:0070048|Orphanet:363686|https://omim.org/entry/615074|UMLS:C3554448	ordo_disease
MONDO:0014033	biolink:Disease	dystonia 25	Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia.	UMLS:C3554447|OMIM:615073|DOID:0090055|Orphanet:329466	mondo.json	dystonia type 25|dystonic disorder caused by mutation in GNAL|dystonia 25|autosomal dominant focal dystonia, DYT25 type|GNAL dystonic disorder|DYT25	http://purl.obolibrary.org/obo/MONDO_0014033	Orphanet:329466|DOID:0090055|https://omim.org/entry/615073|UMLS:C3554447	ordo_disease
MONDO:0016692	biolink:Disease	pilomyxoid astrocytoma	An astrocytic tumor of uncertain relation to pilocytic astrocytoma. It occurs predominantly in infants and young children. It is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. The clinical course is usually aggressive.	Orphanet:251615|ICDO:9425/3|DOID:4845|NCIT:C40315|ONCOTREE:PMA|UMLS:C1519086	mondo.json	PMA	http://purl.obolibrary.org/obo/MONDO_0016692	Orphanet:251615|NCIT:C40315|UMLS:C1519086|DOID:4845	ordo_histopathological_subtype
MONDO:0014032	biolink:Disease	brachydactyly type A1C	Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene.	UMLS:C3554446|OMIM:615072|DOID:0110977	mondo.json	brachydactyly type A1 caused by mutation in GDF5|GDF5 brachydactyly type A1|brachydactyly, type A1, C|BDA1C	http://purl.obolibrary.org/obo/MONDO_0014032	DOID:0110977|https://omim.org/entry/615072|UMLS:C3554446	
MONDO:0016693	biolink:Disease	subependymal giant cell astrocytoma	A benign, slowly growing tumor (WHO grade I) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (WHO)	DOID:5077|SCTID:449799008|ICDO:9384/1|GARD:0010632|NCIT:C3696|UMLS:C0205768|Orphanet:251618	mondo.json	subependymal giant cell astrocytoma (morphologic abnormality)|subependymal giant cell astrocytic neoplasm|subependymal giant cell astrocytic tumor|SEGA	http://purl.obolibrary.org/obo/MONDO_0016693	Orphanet:251618|NCIT:C3696|DOID:5077|http://identifiers.org/snomedct/449799008|UMLS:C0205768	ordo_disease|gard_rare
MONDO:0002039	biolink:Disease	cognitive disorder	A disease affects cognitive processes.	DOID:1561|NCIT:C92196|SCTID:443265004|MESH:D019965|EFO:1001457|ICD9:294.9	mondo.json	cognitive disorder|organic mental disorder|cognitive disease	http://purl.obolibrary.org/obo/MONDO_0002039	NCIT:C92196|http://identifiers.org/snomedct/443265004|http://identifiers.org/mesh/D019965|DOID:1561	
HGNC:31948	biolink:NamedThing	CEACAM16			mondo.json		http://identifiers.org/hgnc/31948		
MONDO:0002035	biolink:Disease	colon lymphoma	An extranodal lymphoma that arises from the colon. The majority are B-cell non-Hodgkin lymphomas.	DOID:1523|NCIT:C4793|ICD9:202.80|UMLS:C0519037|SCTID:133751000119102	mondo.json	colon lymphoma|lymphoma of the colon|lymphoma of colon|primary colon lymphoma|colonic lymphoma	http://purl.obolibrary.org/obo/MONDO_0002035	http://identifiers.org/snomedct/133751000119102|DOID:1523|NCIT:C4793|UMLS:C0519037	
MONDO:0004698	biolink:Disease	intestine carcinoma in situ	A carcinoma in situ involving a intestine.	ICD9:230.7|DOID:9024|UMLS:C0685941|SCTID:92617001	mondo.json	intestine in situ carcinoma|carcinoma in situ of intestine|stage 0 intestine carcinoma	http://purl.obolibrary.org/obo/MONDO_0004698	DOID:9024|UMLS:C0685941|http://identifiers.org/snomedct/92617001	
MONDO:0002036	biolink:Disease	penile disorder	A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma.	MESH:D010409|ICD9:607.8|ICD9:607.9|SCTID:33958003|DOID:1529|NCIT:C26846|UMLS:C0030846|ICD9:607.89	mondo.json	disease of penis|penile disorder|penis disease or disorder|penile disease|disorder of penis|penis disease|disease or disorder of penis	http://purl.obolibrary.org/obo/MONDO_0002036	http://identifiers.org/snomedct/33958003|http://identifiers.org/mesh/D010409|DOID:1529|NCIT:C26846|UMLS:C0030846	
MONDO:0004697	biolink:Disease	esophageal leukoplakia	A rare condition that usually affects the middle-to-distal esophagus in middle-aged and elderly people. There is usually a history of tobacco smoking or alcohol intake. Dysphagia is the presenting symptom. Morphologically, the lesions are well-demarcated and are characterized by epithelial hyperplasia, thickened basal layer, prominent granular cell layer, and hyperorthokeratosis. In a minority of patients this condition is associated with adjacent high-grade squamous dysplasia and/or squamous cell carcinoma.	UMLS:C0267095|DOID:9021|HP:0012859|ICD9:530.83|NCIT:C3953|SCTID:89057003	mondo.json	leukoplakia of esophagus|leukoplakia of the esophagus|esophageal leukoplakia|esophageal leukoplakia (disease)|esophageal epidermoid metaplasia|esophagus leukoplakia	http://purl.obolibrary.org/obo/MONDO_0004697	DOID:9021|http://identifiers.org/snomedct/89057003|UMLS:C0267095|NCIT:C3953	
MONDO:0002037	biolink:Disease	pleural disorder	A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor.	NCIT:C26859|UMLS:C0032226|MESH:D010995|SCTID:88075009|ICD9:518.89|DOID:1532	mondo.json	non-neoplastic pleural disease|disease of pleura|disease or disorder of pleura|pleura disease|pleural disorders|pleura disease or disorder|disorder of pleura|pleural disorder	http://purl.obolibrary.org/obo/MONDO_0002037	http://identifiers.org/snomedct/88075009|DOID:1532|http://identifiers.org/mesh/D010995|NCIT:C26859|UMLS:C0032226	
UBERON:2001073	biolink:AnatomicalEntity	axial vasculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_2001073		
MONDO:0004699	biolink:Disease	gastrointestinal lymphoma	A non-Hodgkin or Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site.	UMLS:C0740372|SCTID:449072004|ICD9:202.80|DOID:903|NCIT:C38162	mondo.json	gastrointestinal lymphoma|lymphoma of digestive system|digestive system lymphoma|primary digestive system lymphoma|primary gastrointestinal lymphoma	http://purl.obolibrary.org/obo/MONDO_0004699	DOID:903|NCIT:C38162|http://identifiers.org/snomedct/449072004|UMLS:C0740372	
MONDO:0002038	biolink:Disease	head and neck carcinoma	A carcinoma that arises from the head and neck region. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.	DOID:1542|UMLS:C3887461|UMLS:C1334927|NCIT:C35850	mondo.json	head and neck cancer|carcinoma of craniocervical region|carcinoma of the head and neck|craniocervical region carcinoma|carcinoma of head and neck|carcinoma of the neck|carcinoma of neck|neck carcinoma|head and neck carcinoma	http://purl.obolibrary.org/obo/MONDO_0002038	DOID:1542|UMLS:C1334927|NCIT:C35850|UMLS:C3887461	
MONDO:0002031	biolink:Disease	cecal disorder	Pathological developments in the cecum.	DOID:1518|MESH:D002429|SCTID:128525008|UMLS:C0007527	mondo.json	disorder of caecum|disease of caecum|disease or disorder of caecum|caecum disease|caecum disease or disorder	http://purl.obolibrary.org/obo/MONDO_0002031	http://identifiers.org/snomedct/128525008|UMLS:C0007527|DOID:1518|http://identifiers.org/mesh/D002429	
MONDO:0004694	biolink:Disease	hepatopulmonary syndrome	Hepatopulmonary syndrome (HPS) is a lung disease characterized by widening of arteries and veins (dilatation) in the lungs in people who have chronic liver disease. Because of the dilated vases, the workload of the heart increases and the blood pumped to the body does not have enough oxygen, leading to a decreased level of oxygen in the blood (hypoxemia). The normal diameter of the lung vessels ranges between 8 and 15 μm whereas when in HPS rises to between 15 and 500 μm. While many people with HPS don't have any obvious problems, the main reported symptom is shortness of breath (dyspnea) that is worse when standing or sitting up, and is relieved when lying down (platypnea). Symptoms related to chronic liver disease (generally cirrhosis) include small red spots on the skin (spider angiomas) and abnormal vascular dilatations. Some other symptoms that have been described are infections in the brain (brain abscesses), brain bleeding and an increased number of red blood cells in the blood (polycythemia). There is currently no effective medication for HPS. Oxygen therapy may improve the breathing in some cases. Liver transplant is an efficient treatment which improves the symptoms, even in severe cases.	ICD9:573.5|GARD:0013384|MESH:D020065|EFO:1001346|SCTID:371067004|ICD10CM:K76.81|UMLS:C0600452|DOID:900|ICD9:417.8	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004694	UMLS:C0600452|http://identifiers.org/snomedct/371067004|http://identifiers.org/mesh/D020065|http://purl.bioontology.org/ontology/ICD10CM/K76.81|DOID:900	gard_rare
MONDO:0002032	biolink:Disease	colon carcinoma	A carcinoma that arises from epithelial cells of the colon	UMLS:C0699790|NCIT:C4910|SCTID:269533000|EFO:1001950|DOID:1520	mondo.json	carcinoma of the colon|colonic carcinoma|colon cancer|colon carcinoma|carcinoma of colon	http://purl.obolibrary.org/obo/MONDO_0002032	DOID:1520|http://identifiers.org/snomedct/269533000|NCIT:C4910|UMLS:C0699790	
MONDO:0004693	biolink:Disease	squamous carcinoma in situ	A malignant epithelial neoplasm confined to the squamous epithelium, without invasion of the underlying tissues.	NCIT:C27093|ICDO:8077/2|UMLS:C0334245|ICDO:8070/2	mondo.json	squamous cell carcinoma in-situ|severe dysplasia of the cervix uteri|stage 0 squamous cell carcinoma|CIN III|uterine cervix in situ carcinoma|carcinoma in situ of cervix|epidermoid cell carcinoma in situ|CIN III - severe dyskaryosis|carcinoma, squamous cell, in situ, malignant|grade 3 SIN|grade III squamous intraepithelial neoplasia|CIN III - carcinoma in situ of cervix|epidermoid carcinoma in situ|intraepithelial squamous cell carcinoma|cervix Ca in situ|squamous intraepithelial neoplasia, grade III|squamous carcinoma in situ|stage 0 uterine cervix carcinoma|severe dysplasia of cervix|squamous cell carcinoma in situ|grade III SIN|cervical intraepithelial neoplasia grade III with severe dysplasia|carcinoma in situ of uterine cervix|grade 3 squamous intraepithelial neoplasia	http://purl.obolibrary.org/obo/MONDO_0004693	UMLS:C0334245|NCIT:C27093	
MONDO:0004696	biolink:Disease	larynx carcinoma in situ	A in situ carcinoma that involves the larynx.	SCTID:92634009|ICD10CM:D02.0|DOID:9011|ICD9:231.0|NCIT:C9100|UMLS:C0154069	mondo.json	laryngeal carcinoma in situ|stage 0 carcinoma of larynx|stage 0 laryngeal carcinoma in situ|larynx in situ carcinoma|stage 0 larynx carcinoma|stage 0 laryngeal carcinoma|laryngeal carcinoma stage 0|larynx carcinoma in situ|stage 0 laryngeal cancer|stage 0 laryngeal throat cancer|carcinoma in situ of larynx|laryngeal cancer stage 0|stage 0 laryngeal cancer aJCC v6, v7, and V8|stage 0 laryngeal cancer aJCC v8|carcinoma in situ of the larynx|stage 0 laryngeal cancer aJCC v7|stage 0 carcinoma of the larynx|stage 0 laryngeal cancer aJCC v6	http://purl.obolibrary.org/obo/MONDO_0004696	UMLS:C0154069|DOID:9011|http://identifiers.org/snomedct/92634009|http://purl.bioontology.org/ontology/ICD10CM/D02.0|NCIT:C9100	
MONDO:0002033	biolink:Disease	cecum cancer	A malignant neoplasm involving the caecum	NCIT:C9329|ICD9:153.4|DOID:1521|UMLS:C0153437	mondo.json	malignant neoplasm of caecum|malignant tumor of the cecum|malignant caecum neoplasm|malignant tumor of cecum|malignant cecum neoplasm|cancer of caecum|malignant neoplasm of the cecum|malignant neoplasm of cecum|caecum cancer|malignant cecum tumor	http://purl.obolibrary.org/obo/MONDO_0002033	DOID:1521|UMLS:C0153437|NCIT:C9329	
MONDO:0004695	biolink:Disease	liver lymphoma	A rare lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma.	UMLS:C1112746|NCIT:C4949|DOID:901	mondo.json	liver lymphoma|hepatic lymphoma|primary hepatic lymphoma|primary liver lymphoma|lymphoma of the liver|lymphoma of liver	http://purl.obolibrary.org/obo/MONDO_0004695	UMLS:C1112746|NCIT:C4949|DOID:901	
MONDO:0002034	biolink:Disease	cecum lymphoma	An extranodal lymphoma that arises from the cecum. The majority are B-cell non-Hodgkin lymphomas.	UMLS:C1332867|NCIT:C5515|DOID:1522	mondo.json	lymphoma of the cecum|caecum lymphoma|lymphoma of cecum|lymphoma of caecum|cecum lymphoma|cecal lymphoma|primary cecum lymphoma	http://purl.obolibrary.org/obo/MONDO_0002034	DOID:1522|NCIT:C5515|UMLS:C1332867	
MONDO:0004690	biolink:Disease	tonsillar fossa cancer	A cancer involving a tonsillar fossa.	UMLS:C0153384|SCTID:363394001|ICD10CM:C09.0|DOID:8969|ICD9:146.1	mondo.json	malignant neoplasm of tonsillar fossa|malignant tumor of tonsillar fossa|tonsillar fossa cancer|cancer of tonsillar fossa|malignant tonsillar fossa neoplasm	http://purl.obolibrary.org/obo/MONDO_0004690	http://purl.bioontology.org/ontology/ICD10CM/C09.0|UMLS:C0153384|http://identifiers.org/snomedct/363394001|DOID:8969	
MONDO:0004692	biolink:Disease	obsolete choledochal cyst			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004692		
MONDO:0004691	biolink:Disease	autosomal dominant polycystic kidney disease	Autosomal dominant form of polycystic kidney disease.	NCIT:C84578|ICD9:753.13|SCTID:765330003|ICD9:753.12|GARD:0010413|EFO:1001496|UMLS:CN119611|UMLS:C0085413|Orphanet:730|DOID:898|MESH:D016891	mondo.json	polycystic kidney disease, autosomal dominant|congenital biliary ectasias|ADPKD|autosomal dominant polycystic kidney disease	http://purl.obolibrary.org/obo/MONDO_0004691	NCIT:C84578|http://identifiers.org/mesh/D016891|http://identifiers.org/snomedct/765330003|UMLS:C0085413|Orphanet:730|DOID:898	
MONDO:0002030	biolink:Disease	chronic cervicitis	Chronic inflammation of the cervix.	NCIT:C27057|SCTID:56728002|DOID:1513|UMLS:C0269062	mondo.json	chronic cervicitis (disease)|cervicitis (disease), chronic	http://purl.obolibrary.org/obo/MONDO_0002030	UMLS:C0269062|DOID:1513|NCIT:C27057|http://identifiers.org/snomedct/56728002	
MONDO:0014028	biolink:Disease	distal arthrogryposis type 5D	Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.	GARD:0013059|Orphanet:329457|UMLS:C3554415|OMIM:615065|DOID:0111594	mondo.json	distal arthrogryposis type 5 without ophthalmoparesis|DA5D|ECEL1 distal arthrogryposis|distal arthrogryposis type 5 without ophthalmoplegia|arthrogryposis, distal, type 5D|distal arthrogryposis caused by mutation in ECEL1	http://purl.obolibrary.org/obo/MONDO_0014028	https://omim.org/entry/615065|DOID:0111594|UMLS:C3554415|Orphanet:329457	ordo_disease|gard_rare
MONDO:0014027	biolink:Disease	hypotrichosis 11	Any hypotrichosis in which the cause of the disease is a mutation in the SNRPE gene.	UMLS:C3554409|OMIM:615059|DOID:0110708	mondo.json	hypt11|hypotrichosis 11|hypotrichosis type 11|HYPT11|SNRPE hypotrichosis|hypotrichosis caused by mutation in SNRPE	http://purl.obolibrary.org/obo/MONDO_0014027	https://omim.org/entry/615059|UMLS:C3554409|DOID:0110708	
MONDO:0014026	biolink:Disease	congenital stationary night blindness 1F	Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene.	OMIM:615058|DOID:0110864|UMLS:C3554399	mondo.json	congenital stationary night blindness type 1F|congenital stationary night blindness caused by mutation in LRIT3|night blindness, congenital stationary (complete), 1F, autosomal recessive|CSNB1F|night blindness, congenital stationary, type 1F|LRIT3 congenital stationary night blindness|congenital stationary night blindness 1F autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0014026	https://omim.org/entry/615058|UMLS:C3554399|DOID:0110864	
MONDO:0014025	biolink:Disease	lower motor neuron syndrome with late-adult onset		UMLS:C3554398|OMIM:615048|Orphanet:276435	mondo.json	SMAJ|spinal muscular atrophy, Jokela type	http://purl.obolibrary.org/obo/MONDO_0014025	https://omim.org/entry/615048|UMLS:C3554398|Orphanet:276435	ordo_disease
MONDO:0016687	biolink:Disease	protoplasmic astrocytoma	A rare variant of diffuse astrocytoma. It is predominantly composed of neoplastic astrocytes showing a small cell body with few, flaccid processes with a low content of glial filaments and scant GFAP expression. This lesion is not well defined and is considered by some authors as an occasional histopathological feature rather than a reproducibly identifiable variant. When occurring in children, this neoplasm may be difficult to separate from pilocytic juvenile astrocytoma. (Adapted from WHO)	NCIT:C4320|Orphanet:251598|UMLS:C0334580|DOID:7008|ICDO:9410/3	mondo.json	protoplasmic astrocytoma (morphologic abnormality)|protoplasmic astrocytoma|protoplasmic astrocytic tumor	http://purl.obolibrary.org/obo/MONDO_0016687	Orphanet:251598|NCIT:C4320|DOID:7008|UMLS:C0334580	ordo_histopathological_subtype
MONDO:0016688	biolink:Disease	fibrillary astrocytoma	The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO)	UMLS:C0334582|ICDO:9420/3|NCIT:C4322|MedDRA:10065889|Orphanet:251601|DOID:6726	mondo.json	fibrillary astrocytic tumors|fibrillary astrocytoma	http://purl.obolibrary.org/obo/MONDO_0016688	Orphanet:251601|NCIT:C4322|UMLS:C0334582|DOID:6726	ordo_histopathological_subtype
MONDO:0016689	biolink:Disease	gemistocytic astrocytoma	A rare variant of diffuse astrocytoma. It is characterized by the presence of a conspicuous, though variable, fraction of gemistocytic neoplastic astrocytes. Gemistocytes are round to oval astrocytes with abundant, glassy, non-fibrillary cytoplasm which appears to displace the dark, angulated nucleus to the periphery of the cell. To make the diagnosis of gemistocytic astrocytoma, gemistocytes should amount to more than approximately 20% of all tumor cells. (Adapted from WHO)	DOID:7005|NCIT:C4321|Orphanet:251604|UMLS:C0334581|ICDO:9411/3	mondo.json	gemistocytic astrocytoma (morphologic abnormality)|gemistocytic astrocytic tumor|Gemistocytoma|gemistocytic astrocytoma	http://purl.obolibrary.org/obo/MONDO_0016689	Orphanet:251604|NCIT:C4321|DOID:7005|UMLS:C0334581	ordo_histopathological_subtype
MONDO:0014029	biolink:Disease	osteogenesis imperfecta type 14	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene.	UMLS:C3554428|DOID:0110343|OMIM:615066|Orphanet:216820	mondo.json	osteogenesis imperfecta caused by mutation in TMEM38B|osteogenesis imperfecta, type 14|OI, type 14|osteogenesis imperfecta type XIV|osteogenesis imperfecta, type XIV|OI14|TMEM38B osteogenesis imperfecta	http://purl.obolibrary.org/obo/MONDO_0014029	https://omim.org/entry/615066|DOID:0110343|UMLS:C3554428	
MONDO:0014020	biolink:Disease	hereditary spastic paraplegia 55		Orphanet:320375|UMLS:C4510214|DOID:0110807|SCTID:723825006|OMIM:615035|UMLS:C3539506	mondo.json	spastic paraplegia 55, autosomal recessive|autosomal recessive spastic paraplegia type 55|autosomal recessive spastic paraplegia 55|SPG55|hereditary spastic paraplegia type 55	http://purl.obolibrary.org/obo/MONDO_0014020	DOID:0110807|UMLS:C4510214|http://identifiers.org/snomedct/723825006|Orphanet:320375|UMLS:C3539506|https://omim.org/entry/615035	ordo_disease
MONDO:0016683	biolink:Disease	gliomatosis cerebri	A diffuse glial tumor which infiltrates the brain extensively, involving more than two lobes. It is frequently bilateral and often extends to the infratentorial structures, even to the spinal cord. It is probably of astrocytic origin, although GFAP expression may be scant or absent. (Adapted from WHO.)	UMLS:C0334576|DOID:6128|NCIT:C4318|ICDO:9381/3|MedDRA:10066254|GARD:0006514|Orphanet:251582	mondo.json	gliomatosis cerebri|gliomatosis cerebri (morphologic abnormality)|gliomatosis|astrocytosis cerebri	http://purl.obolibrary.org/obo/MONDO_0016683	Orphanet:251582|NCIT:C4318|UMLS:C0334576|DOID:6128	ordo_disease|gard_rare
MONDO:0016684	biolink:Disease	anaplastic astrocytoma	Anaplastic astrocytoma is a rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord.	DOID:3078|ONCOTREE:AASTR|GARD:0005860|MedDRA:10060971|Orphanet:251589|ICDO:9401/3|UMLS:C0334579|NCIT:C9477|MedDRA:10002224|EFO:0002499	mondo.json	grade III astrocytic neoplasm|anaplastic astrocytoma|astrocytoma, anaplastic, malignant|grade III astrocytic tumor|malignant astrocytoma|grade III astrocytoma	http://purl.obolibrary.org/obo/MONDO_0016684	Orphanet:251589|UMLS:C0334579|NCIT:C9477|DOID:3078	ordo_disease
MONDO:0016685	biolink:Disease	low-grade astrocytoma		MedDRA:10065869|Orphanet:251592	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016685	Orphanet:251592	ordo_group_of_disorders|disease_grouping
MONDO:0016686	biolink:Disease	diffuse astrocytoma	A low-grade (WHO grade II) astrocytic neoplasm. It is characterized by diffuse infiltration of neighboring central nervous system structures. These lesions typically affect young adults and have a tendency for progression to anaplastic astrocytoma and glioblastoma. Based on the IDH genes mutation status, diffuse astrocytomas are classified as IDH-mutant, IDH-wildtype, and not otherwise specified.	ONCOTREE:DASTR|UMLS:C0280785|NCIT:C7173|GARD:0005907|Orphanet:251595	mondo.json	astrocytoma, diffuse|grade II astrocytic neoplasm|diffuse astrocytoma|protoplasmic astrocytoma (histologic variant)|fibrillary astrocytoma (histologic variant)|astrocytoma, diffuse, malignant|low-grade diffuse astrocytoma|gemistocytic astrocytoma (histologic variant)|grade II astrocytic tumor|WHO grade II astrocytoma|grade II astrocytoma	http://purl.obolibrary.org/obo/MONDO_0016686	UMLS:C0280785|Orphanet:251595|NCIT:C7173	ordo_disease
MONDO:0014024	biolink:Disease	hereditary spastic paraplegia 43	Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.	UMLS:C2680446|SCTID:764736001|DOID:0110795|OMIM:615043|Orphanet:320370	mondo.json	autosomal recessive spastic paraplegia 43|C19orf12 autosomal recessive complex spastic paraplegia|autosomal recessive complex spastic paraplegia caused by mutation in C19orf12|SPG43|hereditary spastic paraplegia type 43|spastic paraplegia 43, autosomal recessive|autosomal recessive spastic paraplegia type 43	http://purl.obolibrary.org/obo/MONDO_0014024	DOID:0110795|http://identifiers.org/snomedct/764736001|UMLS:C2680446|Orphanet:320370|https://omim.org/entry/615043	ordo_disease
HGNC:18971	biolink:NamedThing	AP1S3			mondo.json		http://identifiers.org/hgnc/18971		
MONDO:0014023	biolink:Disease	congenital muscular dystrophy with intellectual disability and severe epilepsy		DOID:0080571|Orphanet:329178|OMIM:615042|GARD:0012416|UMLS:C3554385	mondo.json	congenital disorder of glycosylation type 1u|CDG-Iu|carbohydrate deficient glycoprotein syndrome type Iu|CDG Iu|CDG1U|CDG syndrome type Iu|congenital disorder of glycosylation type Iu|CMD with intellectual disability and severe epilepsy|DPM2-CDG|congenital disorder of glycosylation, type Iu	http://purl.obolibrary.org/obo/MONDO_0014023	UMLS:C3554385|Orphanet:329178|DOID:0080571|https://omim.org/entry/615042	ordo_disease
MONDO:0016680	biolink:Disease	high grade astrocytic tumor	An anaplastic astrocytoma (grade III astrocytic tumor) or glioblastoma (grade IV astrocytic tumor).	NCIT:C102897|UMLS:C3640999|Orphanet:251561	mondo.json	high-grade astrocytoma|high grade astrocytic tumor|high-grade astrocytic tumor|high-grade astrocytic neoplasm|high grade astrocytic neoplasm	http://purl.obolibrary.org/obo/MONDO_0016680	Orphanet:251561|UMLS:C3640999|NCIT:C102897	ordo_group_of_disorders|disease_grouping
MONDO:0016681	biolink:Disease	gliosarcoma	A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO).	GARD:0005653|ICDO:9442/3|MedDRA:10018340|DOID:3071|Orphanet:251576|UMLS:C0206726|EFO:1001465|ONCOTREE:GSARC|NCIT:C3796|MESH:D018316	mondo.json	sarcomatous glioblastoma|glioblastoma with a sarcomatous component|gliosarcoma|glioblastoma with sarcomatous component	http://purl.obolibrary.org/obo/MONDO_0016681	Orphanet:251576|NCIT:C3796|DOID:3071|UMLS:C0206726|http://identifiers.org/mesh/D018316	ordo_histopathological_subtype|gard_rare
MONDO:0014022	biolink:Disease	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10	Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene.	DOID:0111239|OMIM:615041|UMLS:C3554381|Orphanet:899	mondo.json	muscular dystrophy-dystroglycanopathy, type A caused by mutation in RXYLT1|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10|RXYLT1 muscular dystrophy-dystroglycanopathy, type A|MDDGA10|Walker-Warburg syndrome or muscle-eye-brain disease, Tmem5-related	http://purl.obolibrary.org/obo/MONDO_0014022	DOID:0111239|UMLS:C3554381|https://omim.org/entry/615041	
CHR:9606-chr15q11.2	biolink:NamedThing	15q11.2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr15q11.2		
MONDO:0014021	biolink:Disease	familial episodic pain syndrome with predominantly upper body involvement		Orphanet:391389|UMLS:CN204968|OMIM:615040|UMLS:C3808667	mondo.json	episodic pain syndrome, familial, type 1|FEPS1|episodic pain syndrome, familial, 1	http://purl.obolibrary.org/obo/MONDO_0014021	UMLS:C3808667|UMLS:CN204968|Orphanet:391389|https://omim.org/entry/615040	ordo_clinical_subtype
MONDO:0016682	biolink:Disease	giant cell glioblastoma	A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO)	DOID:3074|ICDO:9441/3|Orphanet:251579|NCIT:C4325|UMLS:C0334593|UMLS:C0334588	mondo.json	Monstrocellular sarcoma [obs]|Monstrocellular sarcoma	http://purl.obolibrary.org/obo/MONDO_0016682	Orphanet:251579|NCIT:C4325|UMLS:C0334588|UMLS:C0334593|DOID:3074	ordo_histopathological_subtype
MONDO:0002046	biolink:Disease	alcohol abuse	The use of alcoholic beverages to excess, either on individual occasions ("binge drinking") or as a regular practice.	MESH:D000437|ICD9:305.0|SCTID:15167005|DOID:1574|ICD9:305.00	mondo.json	alcohol addiction|addiction, alcohol|alcohol abuse|alcohol dependence|ethanol abuse|alcoholic intoxication, chronic|intoxication, chronic alcoholic|alcohol use disorder|alcoholism|chronic alcoholic intoxication|abuse, alcohol|dependence, alcohol	http://purl.obolibrary.org/obo/MONDO_0002046	DOID:1574|http://identifiers.org/mesh/D000437|http://identifiers.org/snomedct/15167005	
MONDO:0002047	biolink:Disease	pulmonary systemic sclerosis		SCTID:196133001|ICD9:517.2|DOID:1578|UMLS:C0339904	mondo.json	lung involvement in systemic sclerosis|scleroderma of lung|scleroderma lung disease|lung disease with systemic sclerosis	http://purl.obolibrary.org/obo/MONDO_0002047	UMLS:C0339904|DOID:1578|http://identifiers.org/snomedct/196133001	
MONDO:0002048	biolink:Disease	thrombocytopenia due to immune destruction	A general class of thrombocytopenia due to immune destruction of platelets. It includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., AIDS, transfusion, lupus erythematosus).	GARD:0006768|NCIT:C3991|DOID:1587	mondo.json	immune thrombocytopenia|auto-immune thrombocytopenia|thrombocytopenia due to platelet alloimmunization|thrombocytopenia due to immune destruction	http://purl.obolibrary.org/obo/MONDO_0002048	DOID:1587|NCIT:C3991	
MONDO:0002049	biolink:Disease	thrombocytopenia	A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood.	ICD9:287.5|MESH:D013921|UMLS:C0040034|NCIT:C3408|UMLS:CN130080|SCTID:302215000|DOID:1588	mondo.json	platelet count decreased|thrombocytopenic disorder	http://purl.obolibrary.org/obo/MONDO_0002049	http://identifiers.org/mesh/D013921|UMLS:C0040034|UMLS:CN130080|DOID:1588|NCIT:C3408|http://identifiers.org/snomedct/302215000	
MONDO:0002042	biolink:Disease	mechanical ectropion	An ectropion with a mechanical etiology.	ICD9:374.12|UMLS:C0155194|DOID:1569|SCTID:45020000	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002042	DOID:1569|http://identifiers.org/snomedct/45020000|UMLS:C0155194	
MONDO:0002043	biolink:Disease	ectropion	The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed)	DOID:1570|ICD9:374.1|SCTID:62909004|ICD9:374.10|UMLS:C0013592|HP:0000656|MESH:D004483	mondo.json	ectropion of eyelid|everted margin|ectropion|ectropion (disease)	http://purl.obolibrary.org/obo/MONDO_0002043	DOID:1570|http://identifiers.org/mesh/D004483|UMLS:C0013592|http://identifiers.org/snomedct/62909004	
MONDO:0002044	biolink:Disease	spastic ectropion		DOID:1571|SCTID:80846000|ICD9:374.13|UMLS:C0155195	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002044	UMLS:C0155195|DOID:1571|http://identifiers.org/snomedct/80846000	
HGNC:28303	biolink:NamedThing	ODAD3			mondo.json		http://identifiers.org/hgnc/28303		
NCBITaxon:11617	biolink:OrganismalEntity	Arenaviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_11617		
MONDO:0002045	biolink:Disease	communicating hydrocephalus	An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations.	SCTID:271569006|NCIT:C34501|ICD10CM:G91.0|ICD9:331.3|UMLS:C0009451|DOID:1573	mondo.json	non-obstructive hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0002045	http://purl.bioontology.org/ontology/ICD10CM/G91.0|DOID:1573|http://identifiers.org/snomedct/271569006|UMLS:C0009451|NCIT:C34501	
NCBITaxon:11619	biolink:OrganismalEntity				mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_11619		
MONDO:0002040	biolink:Disease	dermatomycosis	Superficial infections of the skin or its appendages by any of various fungi.	UMLS:C0011630|MESH:D003881|ICD9:111|DOID:1563|SCTID:47382004|ICD9:111.9	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002040	DOID:1563|http://identifiers.org/mesh/D003881|UMLS:C0011630	
MONDO:0002041	biolink:Disease	fungal infectious disease	An infection caused by a fungus.	ICD9:110-118.99|NCIT:C3245|MESH:D009181|DOID:1564|SCTID:3218000|ICD10CM:B35-B49|ICD9:117.9	mondo.json	fungal infection|Fungi disease or disorder|Fungi infection|Fungi infectious disease|Fungi caused disease or disorder|mycosis|mycoses|infection, fungal|infections, Fungi	http://purl.obolibrary.org/obo/MONDO_0002041	http://identifiers.org/snomedct/3218000|http://purl.bioontology.org/ontology/ICD10CM/B35-B49|DOID:1564|NCIT:C3245|http://identifiers.org/mesh/D009181	
MONDO:0014017	biolink:Disease	autism, susceptibility to, 18		OMIM:615032	mondo.json	autism, susceptibility to, type 18|AUTS18|susceptibility to autism 18|autism, susceptibility to, 18	http://purl.obolibrary.org/obo/MONDO_0014017	https://omim.org/entry/615032	predisposition
MONDO:0014016	biolink:Disease	hereditary spastic paraplegia 49	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene.	DOID:0110801|UMLS:C3542549|OMIM:615031|Orphanet:320385	mondo.json	autosomal recessive spastic paraplegia type 49|hereditary spastic paraplegia type 49|SPG49|autosomal recessive spastic paraplegia 49|spastic paraplegia 49, autosomal recessive|TECPR2 hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in TECPR2|hereditary spastic paraplegia 49|neuropathy, hereditary sensory and autonomic, type IX, with developmental delay	http://purl.obolibrary.org/obo/MONDO_0014016	Orphanet:320385|https://omim.org/entry/615031|UMLS:C3542549|DOID:0110801	ordo_disease
MONDO:0014015	biolink:Disease	hereditary spastic paraplegia 56	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene.	Orphanet:320411|OMIM:615030|UMLS:C3539507|DOID:0110808	mondo.json	autosomal recessive spastic paraplegia 56|spastic paraplegia 56, autosomal recessive|hereditary spastic paraplegia caused by mutation in CYP2U1|CYP2U1 hereditary spastic paraplegia|SPG56|autosomal recessive spastic paraplegia type 56|hereditary spastic paraplegia type 56	http://purl.obolibrary.org/obo/MONDO_0014015	UMLS:C3539507|Orphanet:320411|https://omim.org/entry/615030|DOID:0110808	ordo_disease
MONDO:0014014	biolink:Disease	epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive		OMIM:615028|UMLS:C3554367|Orphanet:412189	mondo.json	epidermolysis bullosa simplex due to exophilin 5 deficiency|EBS-AR exophilin 5|epidermolysis bullosa, nonspecific, autosomal recessive|EBNS|epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0014014	https://omim.org/entry/615028|UMLS:C3554367|Orphanet:412189	ordo_disease
MONDO:0016676	biolink:Disease	recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome	Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.	UMLS:C1860229|Orphanet:251523	mondo.json	hyperzincemia and hypercalprotectinemia	http://purl.obolibrary.org/obo/MONDO_0016676	Orphanet:251523|UMLS:C1860229	ordo_disease
MONDO:0016677	biolink:Disease	toxic or drug-related embryofetopathy	Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment.	Orphanet:251529|MESH:D000014	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016677	Orphanet:251529|http://identifiers.org/mesh/D000014	ordo_group_of_disorders|disease_grouping
MONDO:0016678	biolink:Disease	maternal disease-related embryofetopathy		Orphanet:251535|UMLS:CN201921	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016678	Orphanet:251535|UMLS:CN201921	ordo_group_of_disorders|disease_grouping
MONDO:0014019	biolink:Disease	dystonia 24	Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene.	EFO:0009040|Orphanet:420485|UMLS:C3554374|DOID:0090052|OMIM:615034	mondo.json	cranio-cervical dystonia with laryngeal and upper-limb involvement|ANO3 dystonic disorder|dystonia 24|dystonic disorder caused by mutation in ANO3|dystonia type 24|DYT24|DYT-ANO3	http://purl.obolibrary.org/obo/MONDO_0014019	DOID:0090052|https://omim.org/entry/615034|UMLS:C3554374|Orphanet:420485	ordo_disease
MONDO:0014018	biolink:Disease	hereditary spastic paraplegia 54	A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.	SCTID:723824005|OMIM:615033|UMLS:C4510083|UMLS:C3539495|Orphanet:320380|DOID:0110806	mondo.json	autosomal recessive spastic paraplegia 54|hereditary spastic paraplegia type 54|spastic paraplegia 54, autosomal recessive|DDHD2 autosomal recessive complex spastic paraplegia|SPG54|autosomal recessive complex spastic paraplegia caused by mutation in DDHD2|autosomal recessive spastic paraplegia type 54	http://purl.obolibrary.org/obo/MONDO_0014018	UMLS:C3539495|Orphanet:320380|https://omim.org/entry/615033|DOID:0110806|UMLS:C4510083|http://identifiers.org/snomedct/723824005	ordo_disease
MONDO:0016679	biolink:Disease	obsolete rare tumor of neuroepithelial tissue	OBSOLETE. Any of the forms of neuroepithelial neoplasm that have a rare incidence.	Orphanet:251558	mondo.json	rare neuroepithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0016679	Orphanet:251558	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0016672	biolink:Disease	hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		HGNC:5153|Orphanet:251380|HGNC:3627|UMLS:CN201912|OMIM:142470|OMIM:141749|OMIM:613566	mondo.json	HPFH-sickle cell disease syndrome	http://purl.obolibrary.org/obo/MONDO_0016672	Orphanet:251380|UMLS:CN201912	ordo_disease
HGNC:18986	biolink:NamedThing	GBA2			mondo.json		http://identifiers.org/hgnc/18986		
MONDO:0016673	biolink:Disease	localized junctional epidermolysis bullosa, non-Herlitz type	Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails.	Orphanet:251393|UMLS:CN201914|GARD:0012923	mondo.json	JEB-nH loc	http://purl.obolibrary.org/obo/MONDO_0016673	Orphanet:251393|UMLS:CN201914	gard_rare|ordo_clinical_subtype
MONDO:0016674	biolink:Disease	46,XY partial gonadal dysgenesis	46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.	SCTID:725045004|UMLS:C4510744|Orphanet:251510	mondo.json	46,XY partial testicular dysgenesis|46,XY PGD	http://purl.obolibrary.org/obo/MONDO_0016674	http://identifiers.org/snomedct/725045004|Orphanet:251510|UMLS:C4510744	ordo_malformation_syndrome
MONDO:0016675	biolink:Disease	distal arthrogryposis type 10		MESH:C566069|SCTID:275336002|OMIM:187370|UMLS:C1861238|Orphanet:251515|DOID:0111593	mondo.json	arthrogryposis, distal, type 10|short tendo calcaneus|tendo calcaneus, short|distal arthrogryposis type 10|congenital plantar contractures|plantar flexion contracture|short Achilles tendon|DA10	http://purl.obolibrary.org/obo/MONDO_0016675	DOID:0111593|https://omim.org/entry/187370|http://identifiers.org/snomedct/275336002|Orphanet:251515|UMLS:C1861238|http://identifiers.org/mesh/C566069	ordo_malformation_syndrome
HGNC:18985	biolink:NamedThing	DCXR			mondo.json		http://identifiers.org/hgnc/18985		
MONDO:0014013	biolink:Disease	maternal riboflavin deficiency		Orphanet:411712	mondo.json	riboflavin deficiency|RBFVD|maternal riboflavin deficiency	http://purl.obolibrary.org/obo/MONDO_0014013	Orphanet:411712	ordo_disease
MONDO:0014012	biolink:Disease	Charcot-Marie-Tooth disease axonal type 2Q	Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.	OMIM:615025|Orphanet:329258|GARD:0012446|UMLS:C3554366|DOID:0110170	mondo.json	Charcot-Marie-Tooth neuropathy, type 2Q|CMT2Q|Charcot-Marie-Tooth disease, axonal, type 2Q|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Q|Charcot-Marie-Tooth disease caused by mutation in DHTKD1|DHTKD1 Charcot-Marie-Tooth disease|autosomal dominant Charcot-Marie-Tooth disease type 2Q|autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q|Charcot-Marie-Tooth disease type 2Q|Charcot-Marie-Tooth neuropathy type 2Q	http://purl.obolibrary.org/obo/MONDO_0014012	https://omim.org/entry/615025|DOID:0110170|UMLS:C3554366|Orphanet:329258	ordo_disease
GO:0035592	biolink:NamedThing	establishment of protein localization to extracellular region	The directed movement of a protein to a specific location within the extracellular region.		mondo.json	establishment of protein localization in extracellular region|establishment of protein localisation in extracellular region	http://purl.obolibrary.org/obo/GO_0035592		
MONDO:0014011	biolink:Disease	autosomal recessive congenital ichthyosis 10	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene.	DOID:0060719|OMIM:615024|UMLS:C3554355	mondo.json	ichthyosis, congenital, autosomal recessive type 10|ichthyosis, congenital, autosomal recessive 10|autosomal recessive congenital ichthyosis type 10|ARCI10	http://purl.obolibrary.org/obo/MONDO_0014011	https://omim.org/entry/615024|UMLS:C3554355|DOID:0060719	
MONDO:0016670	biolink:Disease	sickle cell-hemoglobin d disease syndrome		Orphanet:251370|MedDRA:10056724|GARD:0012458|UMLS:C0272084	mondo.json	sickle cell - hemoglobin D disease|HbSD disease	http://purl.obolibrary.org/obo/MONDO_0016670	Orphanet:251370|UMLS:C0272084	ordo_disease
MONDO:0014010	biolink:Disease	autosomal recessive congenital ichthyosis 9	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene.	DOID:0060718|OMIM:615023|UMLS:C3554349	mondo.json	ARCI9|autosomal recessive congenital ichthyosis 9|ichthyosis, congenital, autosomal recessive type 9|autosomal recessive congenital ichthyosis type 9|ichthyosis, congenital, autosomal recessive 9	http://purl.obolibrary.org/obo/MONDO_0014010	UMLS:C3554349|https://omim.org/entry/615023|DOID:0060718	
MONDO:0016671	biolink:Disease	sickle cell-hemoglobin E disease syndrome		UMLS:C0272085|Orphanet:251375	mondo.json	HbSE disease	http://purl.obolibrary.org/obo/MONDO_0016671	Orphanet:251375	ordo_disease
HGNC:31928	biolink:NamedThing	NBEAL2			mondo.json		http://identifiers.org/hgnc/31928		
MONDO:0014082	biolink:Disease	cryptosporidiosis-chronic cholangitis-liver disease syndrome		OMIM:615207|UMLS:C3554687|Orphanet:357329	mondo.json	immunodeficiency 56|IL21R immunodeficiency|IMD56|cryptosporidiosis-chronic cholangitis-liver disease syndrome	http://purl.obolibrary.org/obo/MONDO_0014082	Orphanet:357329|https://omim.org/entry/615207|UMLS:C3554687	ordo_disease
HGNC:31923	biolink:NamedThing	LCA5			mondo.json		http://identifiers.org/hgnc/31923		
MONDO:0014081	biolink:Disease	severe combined immunodeficiency due to CARD11 deficiency	Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections.	OMIM:615206|UMLS:C3554686|Orphanet:357237	mondo.json	CARD11 immunodeficiency|immunodeficiency type 11|IMD11A|immunodeficiency 11|IMD11|immunodeficiency 11A|SCID due to CARD11 deficiency	http://purl.obolibrary.org/obo/MONDO_0014081	Orphanet:357237|https://omim.org/entry/615206|UMLS:C3554686	ordo_disease
MONDO:0014080	biolink:Disease	osteosclerotic metaphyseal dysplasia		OMIM:615198|Orphanet:500548|UMLS:C3554665	mondo.json	OSMD|osteosclerotic metaphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0014080	https://omim.org/entry/615198|UMLS:C3554665|Orphanet:500548	ordo_malformation_syndrome
MONDO:0002097	biolink:Disease	obsolete ocular melanoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002097		
MONDO:0002098	biolink:Disease	facial nerve disorder	A disease involving the facial nerve.	DOID:1756|ICD10CM:G51|UMLS:C0015464|ICD9:351|SCTID:422426003|MESH:D005155|NCIT:C27594|ICD9:351.9	mondo.json	facial nerve disease or disorder|disorder of facial nerve|disorders of the VIIth cranial nerve|disorders of the seventh nerve|facial nerve disorder|disease of facial nerve|facial neuropathy|disease or disorder of facial nerve|facial nerve disease|disorder of seventh cranial nerve	http://purl.obolibrary.org/obo/MONDO_0002098	UMLS:C0015464|http://identifiers.org/snomedct/422426003|http://purl.bioontology.org/ontology/ICD10CM/G51|http://identifiers.org/mesh/D005155|NCIT:C27594|DOID:1756	
MONDO:0002099	biolink:Disease	Histoplasma capsulatum infectious disease	An disease or disorder caused by infection with Histoplasma capsulatum.	ICD9:115.0|DOID:1759|ICD9:115.00|SCTID:76255006	mondo.json	Histoplasma capsulatum caused disease or disorder|infection caused by Histoplasma capsulatum|infection by Histoplasma capsulatum|classical histoplasmosis|small form histoplasmosis|darling's disease|Histoplasma capsulatum disease or disorder|American histoplasmosis	http://purl.obolibrary.org/obo/MONDO_0002099	http://identifiers.org/snomedct/76255006|DOID:1759	
MONDO:0100400	biolink:Disease	acute myeloid leukemia, t(3;12)(q23;p12.3)	Any acute myeloid leukemia that has the chromosomal anomaly t(3;12)(q23;p12.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 3 and the short arm (p12.3) of chromosome 12. It is associated with ETV6/MECOM (EVI1) fusions, myeloproliferative disorders, myelodysplastic syndromes and acute myelogenous leukemia.)		mondo.json	AML, t(3;12)(q23;p12.3)	http://purl.obolibrary.org/obo/MONDO_0100400		
MONDO:0002093	biolink:Disease	acanthoma	A benign skin neoplasm composed of epithelial cells.	NCIT:C7419|MESH:D049309|UMLS:C0846967|GARD:0008604|HP:0025432|DOID:174	mondo.json	acanthoma (disease)|acanthoma	http://purl.obolibrary.org/obo/MONDO_0002093	DOID:174|http://identifiers.org/mesh/D049309|NCIT:C7419|UMLS:C0846967	
MONDO:0100401	biolink:Disease	acute myeloid leukemia, del(5q31-q32)	Any acute myeloid leukemia that has the chromosomal anomaly del(5q31-q32). (A cytogenetic abnormality that refers to deletion of chromosome bands 31-32 on the long arm of chromosome 5.)		mondo.json	AML, del(5q31-q32)|AML, del(5)(q31-q32)|AML, del(5)(q31q32)|AML, 5q31-32 Deletion	http://purl.obolibrary.org/obo/MONDO_0100401		
MONDO:0100402	biolink:Disease	acute myeloid leukemia, del(13q14-q21)	Any acute myeloid leukemia that has the chromosomal anomaly del(13q14-q21). (A cytogenetic abnormality that refers to deletion of chromosome bands 14-21 on the long arm of chromosome 13.)		mondo.json	AML, del(13q)(13q14-21)|AML, 13q14-q21 Deletion|AML, del(13)(q14q21)|AML, del(13q14-q21)|AML, del(13)(q14-q21)	http://purl.obolibrary.org/obo/MONDO_0100402		
MONDO:0002094	biolink:Disease	obsolete conjunctival squamous cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002094		
MONDO:0002095	biolink:Disease	vascular cancer	A malignant neoplasm arising from the blood vessels.	MESH:D009383|DOID:175|NCIT:C8538	mondo.json	malignant blood vessel tumor|cancer of vasculature|blood vessel neoplasm|malignant tumor of pulmonary vein|malignant blood vessel neoplasm|Haemangiomatous tumour|pulmonary artery cancer|pulmonary vein malignant neoplasm|malignant vasculature neoplasm|malignant vascular tumor|vasculature cancer|blood vessel tumor (morphologic abnormality)|malignant neoplasm of vasculature|leiomyosarcoma of the renal vein|malignant vascular neoplasm|malignant tumor of pulmonary artery|pulmonary artery malignant neoplasm|blood vessel tumors (morphologic abnormality)|blood vessel tumour disorder|vascular tissue neoplasm|blood vessel tumor|vascular tumors|neoplasm of great vessel|blood vessel tumors|renal vein leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0002095	DOID:175|http://identifiers.org/mesh/D009383|NCIT:C8538	
MONDO:0100403	biolink:Disease	acute myeloid leukemia, loss of chromosome 17p	Any acute myeloid leukemia that has the chromosomal anomaly loss of chromosome 17p. (A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 17 (17p).)		mondo.json	AML, loss of chromosome 17p|AML, del(17p)	http://purl.obolibrary.org/obo/MONDO_0100403		
MONDO:0002096	biolink:Disease	malignant conjunctival melanoma	A malignant melanoma within the conjunctiva of the eye.	SCTID:255004001|GARD:0010744|DOID:1751|NCIT:C4550|UMLS:C0346360|EFO:1000204|ONCOTREE:CM	mondo.json	melanoma of conjunctiva|malignant melanoma of the conjunctiva|malignant conjunctival melanoma|malignant melanoma of conjunctiva|melanoma (disease) of conjunctiva|malignant conjunctiva melanoma|conjunctiva melanoma|CM|conjunctiva melanoma (disease)|melanoma of the conjunctiva|conjunctival melanoma	http://purl.obolibrary.org/obo/MONDO_0002096	http://identifiers.org/snomedct/255004001|DOID:1751|NCIT:C4550|UMLS:C0346360	
MONDO:0100404	biolink:Disease	acute myeloid leukemia, MLL gene rearrangement	Any acute myeloid leukemia that has the chromosomal anomaly MLL gene rearrangement. (A molecular abnormality indicating rearrangement of the MLL (KMT2A) gene.)	NCIT:C174129	mondo.json	AML, Myeloid/Lymphoid or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila) Gene Rearrangement|AML, Myeloid/Lymphoid Leukemia Gene Rearrangement|AML, Myeloid/Lymphoid or Mixed Lineage Leukemia Gene Rearrangement|AML, Lysine Methyltransferase 2A Gene Rearrangement|AML, KMT2A Rearrangement|AML, MLL gene rearrangement|AML, Lysine (K)-Specific Methyltransferase 2A Gene Rearrangement|AML, MLL Rearrangement|AML, Mixed Lineage Leukemia Gene Rearrangement|AML, KMT2A Gene Rearrangement	http://purl.obolibrary.org/obo/MONDO_0100404	NCIT:C174129	
MONDO:0002090	biolink:Disease	eccrine sweat gland neoplasm	A neoplasm involving a eccrine sweat gland.	NCIT:C6796|DOID:173|UMLS:C1333371	mondo.json	eccrine neoplasm|eccrine tumor|neoplasm of eccrine sweat gland|eccrine sweat gland tumor|eccrine skin neoplasm|eccrine sweat gland neoplasm (disease)|eccrine neoplasm of skin|eccrine skin tumor|eccrine neoplasm of the skin|eccrine tumor of skin|tumor of eccrine sweat gland|eccrine tumor of the skin	http://purl.obolibrary.org/obo/MONDO_0002090	NCIT:C6796|UMLS:C1333371|DOID:173	
MONDO:0002091	biolink:Disease	obsolete cryptosporidiosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002091		
MONDO:0002092	biolink:Disease	small intestine leiomyoma	A benign smooth muscle neoplasm arising from the small intestine. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	SCTID:424279009|DOID:1738|NCIT:C7725|UMLS:C0238197	mondo.json	small intestinal leiomyoma|leiomyoma of the small bowel|leiomyoma of small bowel|leiomyoma, small intestine|leiomyoma, small bowel|small bowel leiomyoma|leiomyoma of the small intestine|small intestine leiomyoma|leiomyoma of small intestine	http://purl.obolibrary.org/obo/MONDO_0002092	NCIT:C7725|DOID:1738|http://identifiers.org/snomedct/424279009|UMLS:C0238197	
HGNC:18957	biolink:NamedThing	MAGI2			mondo.json		http://identifiers.org/hgnc/18957		
MONDO:0014086	biolink:Disease	osteogenesis imperfecta type 15	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene.	Orphanet:216820|UMLS:C3808844|DOID:0110347|OMIM:615220|Orphanet:216812	mondo.json	osteogenesis imperfecta caused by mutation in WNT1|osteogenesis imperfecta, type XV|osteogenesis imperfecta type XV|OI, type 15|osteogenesis imperfecta, type 15|OI15|WNT1 osteogenesis imperfecta	http://purl.obolibrary.org/obo/MONDO_0014086	DOID:0110347|https://omim.org/entry/615220|UMLS:C3808844	
MONDO:0014085	biolink:Disease	hydrocephalus, nonsyndromic, autosomal recessive 2	Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene.	OMIM:615219|UMLS:C3554691	mondo.json	hydrocephalus, congenital, 2, with or without brain or eye anomalies|MPDZ congenital hydrocephalus|HYC2|hydrocephalus, nonsyndromic, autosomal recessive 2|congenital hydrocephalus caused by mutation in MPDZ|hydrocephalus, nonsyndromic, autosomal recessive type 2	http://purl.obolibrary.org/obo/MONDO_0014085	https://omim.org/entry/615219|UMLS:C3554691	
MONDO:0014084	biolink:Disease	ataxia with oculomotor apraxia type 3		GARD:0013112|OMIM:615217|UMLS:C3554690|DOID:0060557	mondo.json	ataxia-oculomotor apraxia-3|ataxia-oculomotor apraxia type 3|ataxia-oculomotor apraxia 3|AOA3	http://purl.obolibrary.org/obo/MONDO_0014084	https://omim.org/entry/615217|UMLS:C3554690|DOID:0060557	
MONDO:0014083	biolink:Disease	agammaglobulinemia 7, autosomal recessive	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene.	UMLS:C3554689|OMIM:615214	mondo.json	autosomal agammaglobulinemia caused by mutation in PIK3R1|PIK3R1 autosomal agammaglobulinemia|agammaglobulinemia, autosomal recessive, due to PIK3R1 defect|AGM7|agammaglobulinemia 7, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0014083	https://omim.org/entry/615214|UMLS:C3554689	
MONDO:0014089	biolink:Disease	corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome		UMLS:CN204511|OMIM:615225|OMIM:616964|Orphanet:352662|OMIM:617388|UMLS:C3808876	mondo.json	palmoplantar carcinoma, multiple self-healing|palmoplantar carcinoma, multiple self-healing; MSPC|CIDED|corneal intraepithelial dyskeratosis and ectodermal dysplasia, formerly|corneal intraepithelial dyskeratosis and ectodermal dysplasia|MSPC	http://purl.obolibrary.org/obo/MONDO_0014089	Orphanet:352662|https://omim.org/entry/615225|https://omim.org/entry/616964|UMLS:C3808876|UMLS:CN204511	ordo_disease
MONDO:0014088	biolink:Disease	advanced sleep phase syndrome 2	Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the CSNK1D gene.	OMIM:615224|DOID:0110012|UMLS:C3808874	mondo.json	advanced sleep phase syndrome, familial, 2|advanced sleep phase syndrome, familial, type 2|familial advanced sleep phase syndrome 2|FASPS2|advanced sleep phase syndrome type 2|advanced sleep phase syndrome caused by mutation in CSNK1D|advanced sleep-phase syndrome, familial, 2|CSNK1D advanced sleep phase syndrome	http://purl.obolibrary.org/obo/MONDO_0014088	DOID:0110012|https://omim.org/entry/615224|UMLS:C3808874	
MONDO:0014087	biolink:Disease	Smith-McCort dysplasia 2	Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene.	UMLS:C3714896|OMIM:615222	mondo.json	SMITH-McCort dysplasia 2|Smc2|Smith-McCort dysplasia 2|RAB33B Smith-McCort dysplasia|Smith-McCort dysplasia type 2|Smith-McCort dysplasia caused by mutation in RAB33B	http://purl.obolibrary.org/obo/MONDO_0014087	UMLS:C3714896|https://omim.org/entry/615222	
NCBITaxon:11673	biolink:OrganismalEntity	Feline immunodeficiency virus		GC_ID:1	mondo.json	feline immunodeficiency virus FIV|FIV	http://purl.obolibrary.org/obo/NCBITaxon_11673		
CHR:9606-chr5p13	biolink:NamedThing	5p13 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr5p13		
MONDO:0014071	biolink:Disease	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene.	Orphanet:899|OMIM:615181|UMLS:C3554638|DOID:0111230	mondo.json	muscular dystrophy-dystroglycanopathy, type A caused by mutation in B3GALNT2|MDDGA11|Walker-Warburg syndrome or muscle-eye-brain disease, B3Galnt2-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11|B3GALNT2 muscular dystrophy-dystroglycanopathy, type A|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11	http://purl.obolibrary.org/obo/MONDO_0014071	DOID:0111230|https://omim.org/entry/615181|UMLS:C3554638	
NCBITaxon:11676	biolink:OrganismalEntity	Human immunodeficiency virus 1		GC_ID:1	mondo.json	human immunodeficiency virus type I HIV-1|AIDS virus|human immunodeficiency virus-1 HIV-1|HIV1|human immunodeficiency virus type-1 HIV-1|human immunodeficiency virus type 1, HIV-1|human immunodeficiency virus 1 HIV-1|human immunodeficiency virus HIV-1|Human immunodeficiency virus type 1|human immunodeficiency virus type 1 HIV 1|HIV|LAV-1|HIV-1|human immunodeficiency virus type 1 HIV-1|human immunodeficiency virus type 1 HIV1	http://purl.obolibrary.org/obo/NCBITaxon_11676		
MONDO:0014070	biolink:Disease	oculocutaneous albinism type 7	Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.	UMLS:CN204524|DOID:0070100|OMIM:615179|UMLS:C3808786|SCTID:722059002|Orphanet:352745	mondo.json	oculocutaneous albinism caused by mutation in LRMDA|albinism, oculocutaneous, type 7|OCA7|albinism, oculocutaneous, type VII|oculocutaneous albinism type VII|LRMDA oculocutaneous albinism	http://purl.obolibrary.org/obo/MONDO_0014070	https://omim.org/entry/615179|UMLS:C3808786|UMLS:CN204524|DOID:0070100|Orphanet:352745|http://identifiers.org/snomedct/722059002	ordo_disease
MONDO:0100410	biolink:Disease	acute myeloid leukemia, t(16;21)(p11;q22)	Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(p11;q22). (A chromosomal translocation involving the FUS gene on chromosome 16p11 and the ERG gene on chromosome 21q22.)		mondo.json	AML, t(16;21)(p11.2;q22.2)|AML, t(16;21)(p11;q22)	http://purl.obolibrary.org/obo/MONDO_0100410		
MONDO:0100411	biolink:Disease	obsolete acute myeloid leukemia, NPM1 gene mutation			mondo.json		http://purl.obolibrary.org/obo/MONDO_0100411		
MONDO:0100412	biolink:Disease	acute myeloid leukemia, monoallelic CEBPA gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly monoallelic CEBPA gene mutation. (The presence of mutations in only one allele of the CEBPA gene.)		mondo.json	AML, CCAAT/Enhancer Binding Protein, Alpha Monoallelic Gene Mutation|AML, monoallelic CEBPA gene mutation|AML, CEBPA Monoallelic Gene Mutation|AML, C/EBPalpha Monoallelic Gene Mutation|AML, CEBPA Monoallelic Mutation|AML, CCAAT Enhancer Binding Protein Alpha Monoallelic Gene Mutation|AML, CCAAT/Enhancer Binding Protein Alpha Monoallelic Gene Mutation|AML, moCEBPA|AML, C/EBP-Alpha Monoallelic Gene Mutation|AML, CEBP Monoallelic Gene Mutation	http://purl.obolibrary.org/obo/MONDO_0100412		
MONDO:0100413	biolink:Disease	acute myeloid leukemia, biallelic CEBPA gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly biallelic CEBPA gene mutation. (The presence of mutations in both alleles of the CEBPA gene.)		mondo.json	AML, CCAAT Enhancer Binding Protein Alpha Biallelic Gene Mutation|AML, CCAAT/Enhancer Binding Protein Alpha Biallelic Gene Mutation|AML, biCEBPA|AML, C/EBP-Alpha Biallelic Gene Mutation|AML, CEBP Biallelic Gene Mutation|AML, CEBPA Biallelic Mutation|AML, CCAAT/Enhancer Binding Protein, Alpha Biallelic Gene Mutation|AML, biallelic CEBPA gene mutation|AML, CEBPA Biallelic Gene Mutation|AML, C/EBPalpha Biallelic Gene Mutation	http://purl.obolibrary.org/obo/MONDO_0100413		
UBERON:2001089	biolink:AnatomicalEntity	myoseptum			mondo.json		http://purl.obolibrary.org/obo/UBERON_2001089		
MONDO:0100414	biolink:Disease	acute myeloid leukemia, CEBPA gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly CEBPA gene mutation. (Mutation of the CEBPA gene encoding CCAAT/enhancer binding protein alpha. It is seen in acute myeloid leukemias usually associated with a normal karyotype.)	NCIT:C151898	mondo.json	AML, C/EBP-Alpha Gene Mutation|AML, CEBP Gene Mutation|AML, CCAAT/Enhancer Binding Protein, Alpha Gene Mutation|AML, CEBPA gene mutation|AML, CCAAT Enhancer Binding Protein Alpha Gene Mutation|AML, C/EBPalpha Mutation|AML, CEBPA Mutation	http://purl.obolibrary.org/obo/MONDO_0100414	NCIT:C151898	
MONDO:0100415	biolink:Disease	acute myeloid leukemia, FLT3 internal tandem duplication	Any acute myeloid leukemia that has the chromosomal anomaly FLT3 internal tandem duplication. (A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis.)	NCIT:C126748	mondo.json	AML, Activating FLT3-ITD Gene Mutation|AML, FLT3-ITD Activating Mutation|AML, Activating FLT3-ITD Mutation|AML, FLT3/ITD Mutation|AML, FLT3 internal tandem duplication|AML, FLT3-ITD|AML, FLT3-ITD Mutation|AML, FLT3 ITD	http://purl.obolibrary.org/obo/MONDO_0100415	NCIT:C126748	
MONDO:0100405	biolink:Disease	acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive	Any acute myeloid leukemia that has the chromosomal anomaly Non-KMT2A MLLT10 rearrangement positive. (An indication that a cytogenetic rearrangement involving MLLT10 but not involving KMT2A was detected in a sample.)		mondo.json	AML, Non-MLL MLLT10 Rearrangement Positive|AML, Non-MLL MLLT10 Rearrangement|AML, Non-KMT2A MLLT10 Rearrangement|AML, Non-KMT2A MLLT10 rearrangement positive	http://purl.obolibrary.org/obo/MONDO_0100405		
MONDO:0100406	biolink:Disease	acute myeloid leukemia, inv(16)(p13.3;q24.3)	Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.3;q24.3). (A pericentric chromosomal inversion that involves chromosome 16. It is associated with CBFA2T3/GLIS2 fusions and pediatric acute megakaryoblastic leukemia.)		mondo.json	AML, inv(16)(p13;q24)|AML, inv(16)(p13q24)|AML, inv(16)(p13.3q24.3)|AML, inv(16)(p13.3;q24.3)	http://purl.obolibrary.org/obo/MONDO_0100406		
MONDO:0100407	biolink:Disease	acute myeloid leukemia, t(11;15)(p15;q35)	Any acute myeloid leukemia that has the chromosomal anomaly t(11;15)(p15;q35). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 15q35. It results in the formation of NUP98/JARID1A fusion gene. It is associated with the development of acute myeloid leukemia with t(11;15)(p15;q35); NUP98-JARID1A.)	NCIT:C131504	mondo.json	AML, t(11;15)(p15;q35)	http://purl.obolibrary.org/obo/MONDO_0100407	NCIT:C131504	
MONDO:0100408	biolink:Disease	acute myeloid leukemia, t(16;21)(q24;q22)	Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(q24;q22). (A cytogenetic abnormality that refers to the translocation of the long arm (q24) of chromosome 16 and the long arm (q22) of chromosome 22. It is associated with RUNX1/CBFA2T3 fusions, myelodysplastic syndromes and acute myeloid leukemia.)		mondo.json	AML, t(16;21)(q24;q22)	http://purl.obolibrary.org/obo/MONDO_0100408		
MONDO:0100409	biolink:Disease	acute myeloid leukemia, t(3;5)(q25;q34)	Any acute myeloid leukemia that has the chromosomal anomaly t(3;5)(q25;q34). (A cytogenetic abnormality that refers to the translocation of the long arm (q25) of chromosome 3 and the long arm (q34) of chromosome 5. It is associated with the development of acute myeloid leukemia arising from myelodysplastic syndrome, acute myeloid leukemia with multilineage dysplasia, and acute myeloid leukemia with myelodysplasia-related changes.)	NCIT:C7600	mondo.json	AML, t(3;5)(q25;q34)	http://purl.obolibrary.org/obo/MONDO_0100409	NCIT:C7600	
HP:0007754	biolink:PhenotypicFeature	Macular dystrophy	Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.	UMLS:C0730292	mondo.json		http://purl.obolibrary.org/obo/HP_0007754		hposlim_core
HGNC:18969	biolink:NamedThing	IL31RA			mondo.json		http://identifiers.org/hgnc/18969		
MONDO:0014075	biolink:Disease	cataract 39 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYGB gene.	Orphanet:98994|Orphanet:98988|UMLS:C3808800|DOID:0110236|OMIM:615188|Orphanet:98995	mondo.json	CTRCT39|cataract 39, multiple types|early-onset non-syndromic cataract caused by mutation in CRYGB|autosomal dominant cataract 39 multiple types|CRYGB early-onset non-syndromic cataract|cataract 39, multiple types, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0014075	DOID:0110236|https://omim.org/entry/615188|UMLS:C3808800	
MONDO:0014074	biolink:Disease	Charcot-Marie-Tooth disease dominant intermediate F	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.	Orphanet:352670|DOID:0110206|GARD:0009206|OMIM:615185|UMLS:C3554654	mondo.json	autosomal dominant intermediate Charcot-Marie-Tooth disease type F|Charcot-Marie-Tooth disease, dominant intermediate F|DI-CMTF|Charcot-Marie-Tooth disease, dominant Intermediate type F|GNB4-related intermediate Charcot-Marie-Tooth neuropathy|CMTDIF|Charcot-Marie-Tooth disease dominant intermediate type F	http://purl.obolibrary.org/obo/MONDO_0014074	Orphanet:352670|https://omim.org/entry/615185|DOID:0110206|UMLS:C3554654	ordo_disease
MONDO:0014073	biolink:Disease	dilated cardiomyopathy 1II	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene.	OMIM:615184|UMLS:C3554649|DOID:0110450	mondo.json	dilated cardiomyopathy type 1II|cardiomyopathy, dilated, type 1II|cardiomyopathy, dilated, 1II|CMD1II|familial isolated dilated cardiomyopathy caused by mutation in CRYAB|CRYAB familial isolated dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0014073	https://omim.org/entry/615184|DOID:0110450|UMLS:C3554649	
MONDO:0014072	biolink:Disease	D,L-2-hydroxyglutaric aciduria	D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.	DOID:0111619|OMIM:615182|UMLS:C4076194|ICD9:270.8|SCTID:713401006|Orphanet:356978	mondo.json	D2L2AD|combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia|combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria|D,L-2-hydroxyglutaric acidemia|D,L-2-HGA|D,L-2-hydroxyglutaric aciduria|combined D-2- and L-2-hydroxyglutaric aciduria	http://purl.obolibrary.org/obo/MONDO_0014072	DOID:0111619|https://omim.org/entry/615182|Orphanet:356978|UMLS:C4076194|http://identifiers.org/snomedct/713401006	ordo_disease
MONDO:0014079	biolink:Disease	restless legs syndrome, susceptibility to, 8		OMIM:615197	mondo.json	restless legs syndrome 8|restless legs syndrome, susceptibility to, 8|RLS8	http://purl.obolibrary.org/obo/MONDO_0014079	https://omim.org/entry/615197	predisposition
MONDO:0014078	biolink:Disease	platelet-type bleeding disorder 15	Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene.	DOID:0111053|OMIM:615193|UMLS:C3554663	mondo.json	ACTN1 inherited bleeding disorder, platelet-type|autosomal dominant macrothrombocytopenia ACTN1-related|bleeding disorder, platelet-type, 15|platelet-type bleeding disorder 15|macrothrombocytopenia, autosomal dominant, ACTN1-related|inherited bleeding disorder, platelet-type caused by mutation in ACTN1|BDPLT15	http://purl.obolibrary.org/obo/MONDO_0014078	DOID:0111053|https://omim.org/entry/615193|UMLS:C3554663	
MONDO:0014077	biolink:Disease	cobblestone lissencephaly without muscular or ocular involvement	Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.	Orphanet:352682|OMIM:615191|UMLS:C3554657	mondo.json	lissencephaly 5|lissencephaly type 2 without muscular or eye involvement|cobblestone lissencephaly without muscular or eye involvement|lissencephaly type 5|cobblestone lissencephaly without muscular or ocular involvement|lissencephaly type 2 without muscular or ocular involvement|LIS5	http://purl.obolibrary.org/obo/MONDO_0014077	Orphanet:352682|https://omim.org/entry/615191|UMLS:C3554657	ordo_disease|clingen
MONDO:0014076	biolink:Disease	dyskeratosis congenita, autosomal recessive 5	A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33.	Orphanet:3322|DOID:0070020|UMLS:C3554656|DOID:0070022|OMIM:615190	mondo.json	dyskeratosis congenita, autosomal recessive type 5|dyskeratosis congenita, autosomal dominant 4|dyskeratosis congenita, autosomal recessive 5|DKCB5|autosomal recessive dyskeratosis congenita 5|autosomal dominant dyskeratosis congenita 4|DKCA4	http://purl.obolibrary.org/obo/MONDO_0014076	https://omim.org/entry/615190|UMLS:C3554656|DOID:0070022	
MONDO:0014060	biolink:Disease	progressive retinal dystrophy due to retinol transport defect		OMIM:615147|ICD10CM:H35.5|UMLS:C3554593|Orphanet:352718	mondo.json	retinal dystrophy, iris coloboma, and comedogenic acne syndrome|retinol dystrophy-iris coloboma-comedogenic acne syndrome|RDCCAS	http://purl.obolibrary.org/obo/MONDO_0014060	Orphanet:352718|https://omim.org/entry/615147|UMLS:C3554593	ordo_disease
MONDO:0002079	biolink:Disease	obsolete neuroendocrine tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002079		
NCBITaxon:11646	biolink:OrganismalEntity	Lentivirus		GC_ID:1	mondo.json	Lentivirinae	http://purl.obolibrary.org/obo/NCBITaxon_11646		
MONDO:0002075	biolink:Disease	spontaneous tension pneumothorax		UMLS:C0155907|ICD9:512.0|SCTID:196102003|DOID:1672|ICD10CM:J93.0	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002075	http://purl.bioontology.org/ontology/ICD10CM/J93.0|http://identifiers.org/snomedct/196102003|UMLS:C0155907|DOID:1672	
MONDO:0100420	biolink:Disease	acute myeloid leukemia, KIT gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly KIT gene mutation. (A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.)		mondo.json	AML, C-KIT Mutation|AML, c-KIT Gene Mutation|AML, V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Mutation|AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Mutation|AML, CD117 Mutation|AML, KIT gene mutation|AML, CD117 Gene Mutation	http://purl.obolibrary.org/obo/MONDO_0100420		
MONDO:0002076	biolink:Disease	pneumothorax	Abnormal presence of air in the pleural cavity.	SCTID:36118008|NCIT:C38006|DOID:1673|HP:0002107|MESH:D011030|ICD9:512.8	mondo.json	pneumothorax|pneumothorax (disease)	http://purl.obolibrary.org/obo/MONDO_0002076	http://identifiers.org/snomedct/36118008|http://identifiers.org/mesh/D011030|NCIT:C38006|DOID:1673	
MONDO:0100421	biolink:Disease	acute myeloid leukemia, GATA1 gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly GATA1 gene mutation. (A change in the nucleotide sequence of the GATA1 gene.)		mondo.json	AML, GATA-1 Gene Mutation|AML, GATA1 Mutation|AML, GF1 Gene Mutation|AML, NF-E1 Gene Mutation|AML, NFE1 Gene Mutation|AML, GF-1 Gene Mutation|AML, GATA1 gene mutation|AML, GATA Binding Protein 1 Gene Mutation|AML, ERYF1 Gene Mutation	http://purl.obolibrary.org/obo/MONDO_0100421		
MONDO:0002077	biolink:Disease	low implantation of placenta		ICD9:641.0|DOID:1677|SCTID:7792000	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002077	http://identifiers.org/snomedct/7792000|DOID:1677	
MONDO:0100422	biolink:Disease	acute myeloid leukemia, RUNX1 gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly RUNX1 gene mutation. (A change in the nucleotide sequence of the RUNX1 gene.)	NCIT:C129786	mondo.json	AML, AMLCR1 Gene Mutation|AML, AML1 Gene Mutation|AML, CBFA2 Gene Mutation|AML, Runt-Related Transcription Factor 1 Gene Mutation|AML, AML1 Mutation|AML, RUNX1 gene mutation|AML, CBFalpha2 Mutation|AML, Acute Myeloid Leukemia 1 Gene Mutation	http://purl.obolibrary.org/obo/MONDO_0100422	NCIT:C129786	
MONDO:0002078	biolink:Disease	heart septal defect	A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum.	SCTID:253273004|NCIT:C84482|UMLS:C0018816|MESH:D006343|ICD9:745.8|DOID:1681|ICD9:745.9	mondo.json	Cardiac septal defects|holes in the heart|septal defect|congenital septal defect|congenital septal defect of heart	http://purl.obolibrary.org/obo/MONDO_0002078	NCIT:C84482|DOID:1681|UMLS:C0018816|http://identifiers.org/snomedct/253273004|http://identifiers.org/mesh/D006343	
MONDO:0100423	biolink:Disease	acute myeloid leukemia, PTPN11 gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly PTPN11 gene mutation. (Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia.)		mondo.json	AML, PTP2C Gene Mutation|AML, PTP-1D Gene Mutation|AML, PTPN11 gene mutation|AML, Protein Tyrosine Phosphatase Non-Receptor Type 11 Gene Mutation|AML, BPTP3 Gene Mutation|AML, Protein Tyrosine Phosphatase, Non-Receptor Type 11 Gene Mutation|AML, SHP-2 Gene Mutation|AML, SHP2 Gene Mutation|AML, SH-PTP2 Gene Mutation	http://purl.obolibrary.org/obo/MONDO_0100423		
MONDO:0002071	biolink:Disease	supratentorial cancer	Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and brain STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation.	NCIT:C4964|DOID:1659|MESH:D015173	mondo.json	brain neoplasm, supratentorial|malignant supratentorial neoplasm|malignant supratentorial tumor|supratentorial neoplasms, malignant	http://purl.obolibrary.org/obo/MONDO_0002071	NCIT:C4964|DOID:1659|http://identifiers.org/mesh/D015173	
MONDO:0002072	biolink:Disease	melanotic neuroectodermal tumor	A rare neoplasm usually occurring in infants. It is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It may involve the skull and facial bones, or the epididymis. It usually has a benign clinical course.	EFO:1001038|MESH:D017600|UMLS:C0206094|ICDO:9363/0|SCTID:404042005|NCIT:C3717|DOID:166	mondo.json	pigmented neuroectodermal tumour of infancy|infantile melanotic neuroectodermal neoplasm|pigmented neuroectodermal tumor|MNTI|melanotic neuroectodermal tumor (morphologic abnormality)|melanotic neuroectodermal tumor of infancy|melanotic neuroectodermal tumor of infancy (morphologic abnormality)|melanotic Progonoma|retinal anlage neoplasm	http://purl.obolibrary.org/obo/MONDO_0002072	NCIT:C3717|DOID:166|UMLS:C0206094|http://identifiers.org/snomedct/404042005|http://identifiers.org/mesh/D017600	
MONDO:0100424	biolink:Disease	acute myeloid leukemia, NRAS gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly NRAS gene mutation. (A change in the structure of the NRAS gene.)		mondo.json	AML, Neuroblastoma RAS Viral Oncogene Homolog Gene Mutation|AML, NRAS gene mutation|AML, N-RAS Gene Mutation	http://purl.obolibrary.org/obo/MONDO_0100424		
MONDO:0100425	biolink:Disease	acute myeloid leukemia, KRAS gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly KRAS gene mutation. (A change in the nucleotide sequence of the KRAS gene.)		mondo.json	AML, KRAS Gene Mutation|AML, KRAS gene mutation|AML, v-Ki-ras2 Kirsten Rat Sarcoma Viral Oncogene Homolog Gene Mutation|AML, KRAS2 Gene Mutation|AML, c-K-ras Gene Mutation|AML, KRAS-2 Gene Mutation	http://purl.obolibrary.org/obo/MONDO_0100425		
MONDO:0002073	biolink:Disease	malignant pineal area germ cell neoplasm	A malignant germ cell tumor that arises in the pineal region. Representative examples include germinoma, immature teratoma, choriocarcinoma, embryonal carcinoma and yolk sac tumor.	UMLS:C0349621|GARD:0012017|SCTID:277508009|UMLS:C1334612|DOID:1660|ICD9:239.7|NCIT:C6767	mondo.json	malignant pineal parenchymal germ cell tumor|pineal region germinoma|malignant germ cell tumor of pineal gland|malignant germ cell neoplasm of the pineal parenchyma|malignant germ cell tumor of the pineal gland|pineal germ cell tumor|malignant germ cell neoplasm of pineal parenchyma|pineal region germ cell tumor|malignant pineal area germ cell tumor|pineal germ cell neoplasm, malignant|pineal cell tumour|malignant pineal region germ cell neoplasm|malignant pineal gland germ cell tumor|pineal cell tumor|malignant germ cell neoplasm of pineal gland|malignant germ cell neoplasm of the pineal gland|malignant pineal parenchymal germ cell neoplasm|malignant germ cell tumor of the pineal parenchyma|malignant germ cell tumor of pineal parenchyma|malignant pineal gland germ cell neoplasm|malignant pineal region germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0002073	UMLS:C1334612|http://identifiers.org/snomedct/277508009|NCIT:C6767|UMLS:C0349621|DOID:1660	gard_rare
MONDO:0002074	biolink:Disease	Behcet syndrome arthropathy	Arthropathy resulting from Behcet's syndrome.	NCIT:C35225|SCTID:62918002|UMLS:C0157770|ICD9:711.2|ICD9:711.28|DOID:1670|ICD9:711.26|ICD9:711.23|ICD9:711.20	mondo.json	arthropathy in Behcet's syndrome involving multiple sites|Behcet syndrome arthropathy|arthropathy in Behcet's syndrome involving forearm|arthropathy in Behcet's syndrome involving lower leg|arthropathy in Behcet's syndrome involving upper arm|arthropathy in Behcet's syndrome|arthropathy in Behcet's syndrome involving pelvic region and thigh|arthropathy in Behcet's syndrome involving ankle and foot|Behcet's syndrome arthropathy|arthropathy in Behcet's syndrome involving hand|arthropathy in Behcet's syndrome involving shoulder region	http://purl.obolibrary.org/obo/MONDO_0002074	http://identifiers.org/snomedct/62918002|NCIT:C35225|UMLS:C0157770|DOID:1670	
MONDO:0026045	biolink:Disease	prurigo nodularis	Prurigonodularis (PN) is a skin disease in which hard crusty lumps are formed on the skin that itches intensely. Repetitive rubbing, scratching, and touching results in more lesions in the skin. The itching is so intense that people scratch themselves to the point of bleeding or pain. The lumps formed in the skin are hard, and have about a half inch across, with a dry and rough top that is often scratched open. They tend to be located in the areas most easily reached and are worse on the outer sides: arms, shoulders and legs. The trunk, face and even palms can also be affected. The exact cause is unknown but some factors triggering PN include liver and kidneys problems, nervous and mental conditions and other skin diseases. Prurigo nodulares, in some cases, can be seen in other diseases such as lymphoma, chronic autoimmune cholestatic hepatitis, HIV infection, severe anemia,or a chronic kidney disease-related itching known as uremic pruritus. Treatment is very difficult, and may include corticoids, antihistaminic and other medication such as thalidomide and similar (Lenalidomide). In some cases, cryotherapy, photochemotherapy and habit reversal therapy for the itch-scratch cycle has improved the symptoms. PN can last for many years, and the itching is so intense that may affect all the everyday activities.	GARD:0007480	mondo.json		http://purl.obolibrary.org/obo/MONDO_0026045		gard_rare
MONDO:0100426	biolink:Disease	iatrogenic	A characteristic of a diseae which results from diagnostic and therapeutic procedures undertaken on a patient.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100426		
MONDO:0100416	biolink:Disease	acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation	Any acute myeloid leukemia that has the chromosomal anomaly FLT3 tyrosine kinase domain point mutation. (Single nucleotide mutations in the tyrosine kinase domain encoded by the human FLT3 gene that are associated with acute myeloid leukemia and poor prognosis.)		mondo.json	AML, FLT3 tyrosine kinase domain point mutation|AML, FLT3/TKD Point Mutation|AML, FLT3-TKD Point Mutation	http://purl.obolibrary.org/obo/MONDO_0100416		
MONDO:0100417	biolink:Disease	acute myeloid leukemia, WT1 gene mutation	Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutation. (A change in the nucleotide sequence of the WT1 gene.)		mondo.json	AML, WAGR Gene Mutation|AML, WT1 mutation|AML, WIT-2 Gene Mutation|AML, GUD Gene Mutation|AML, WT33 Gene Mutation|AML, WT1 gene mutation|AML, Wilms Tumor 1 Gene Mutation	http://purl.obolibrary.org/obo/MONDO_0100417		
MONDO:0100418	biolink:Disease	acute myeloid leukemia, KIT exon 17 mutation	Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 17 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.)		mondo.json	AML, c-KIT Exon 17 Mutation|AML, v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 17 Mutation|AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 17 Mutation|AML, KIT exon 17 mutation|AML, CD117 Exon 17 Mutation	http://purl.obolibrary.org/obo/MONDO_0100418		
MONDO:0100419	biolink:Disease	acute myeloid leukemia, KIT exon 8 mutation	Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 8 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 8 of the KIT gene located within 4q11-q12.)		mondo.json	AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 8 Mutation|AML, v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 8 Mutation|AML, c-KIT Exon 8 Mutation|AML, CD117 Exon 8 Mutation|AML, KIT exon 8 mutation	http://purl.obolibrary.org/obo/MONDO_0100419		
MONDO:0002070	biolink:Disease	ventricular septal defect	The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired.	DOID:1657|OMIMPS:614429|HP:0001629|Orphanet:1480|ICD9:745.4|SCTID:30288003|NCIT:C84506|MESH:D006345|GARD:0007853	mondo.json	ventricular septal defects|ventricular septal abnormality|interventricular communication|heart septal defects, ventricular|interventricular septal defect|ventricular septal defect|ventricular septal defect (disease)|VSD	http://purl.obolibrary.org/obo/MONDO_0002070	Orphanet:1480|http://identifiers.org/snomedct/30288003|http://identifiers.org/mesh/D006345|https://omim.org/phenotypicSeries/PS614429|DOID:1657|NCIT:C84506	
MONDO:0014069	biolink:Disease	syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome		OMIM:615170|Orphanet:357332|UMLS:C3554611	mondo.json	WAHAB syndrome|Wahab syndrome|Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome|camptodactyly, clinodactyly, syndactyly, and bifid toe syndrome	http://purl.obolibrary.org/obo/MONDO_0014069	Orphanet:357332|https://omim.org/entry/615170|UMLS:C3554611	ordo_malformation_syndrome
MONDO:0014064	biolink:Disease	mitochondrial complex III deficiency nuclear type 3	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRB gene.	OMIM:615158|DOID:0080112|UMLS:C3554606	mondo.json	mitochondrial complex III deficiency, nuclear type 3|mitochondrial complex III deficiency caused by mutation in UQCRB|mitochondrial Complex 3 deficiency, nuclear type 3|MC3DN3|UQCRB mitochondrial complex III deficiency	http://purl.obolibrary.org/obo/MONDO_0014064	DOID:0080112|https://omim.org/entry/615158|UMLS:C3554606	
MONDO:0014063	biolink:Disease	mitochondrial complex III deficiency nuclear type 2	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene.	OMIM:615157|DOID:0060351|UMLS:C3554605	mondo.json	TTC19 mitochondrial complex III deficiency|mitochondrial complex III deficiency, nuclear type 2|mitochondrial complex III deficiency nuclear type 2|mitochondrial Complex 3 deficiency, nuclear type 2|MC3DN2|mitochondrial complex III deficiency caused by mutation in TTC19	http://purl.obolibrary.org/obo/MONDO_0014063	https://omim.org/entry/615157|DOID:0060351|UMLS:C3554605	
MONDO:0014062	biolink:Disease	mitochondrial DNA deletion syndrome with progressive myopathy		UMLS:C3554599|DOID:0111519|OMIM:615156|Orphanet:352470	mondo.json	mtDNA deletion syndrome with progressive myopathy|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6|PEOA6|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 6|mitochondrial DNA deletion syndrome with limb-girdle weakness|progressive external ophthalmoplegia, autosomal dominant 6|mtDNA deletion syndrome with limb-girdle weakness	http://purl.obolibrary.org/obo/MONDO_0014062	Orphanet:352470|https://omim.org/entry/615156|DOID:0111519|UMLS:C3554599	ordo_disease
MONDO:0014061	biolink:Disease	Steel syndrome	A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described.	UMLS:C3554594|Orphanet:438117|OMIM:615155	mondo.json	steel syndrome|bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome|STLS|dislocated hips and radial heads, carpal coalition, scoliosis, and short stature	http://purl.obolibrary.org/obo/MONDO_0014061	https://omim.org/entry/615155|UMLS:C3554594|Orphanet:438117	ordo_disease
MONDO:0014068	biolink:Disease	cone-rod dystrophy 17	A cone-rod dystrophy that has material basis in variation in the chromosome region 10q26.	UMLS:C3554610|DOID:0111023|OMIM:615163	mondo.json	cone-rod dystrophy type 17|cone-rod dystrophy 17|CORD17	http://purl.obolibrary.org/obo/MONDO_0014068	DOID:0111023|https://omim.org/entry/615163|UMLS:C3554610	
MONDO:0014067	biolink:Disease	short ulna-dysmorphism-hypotonia-intellectual disability syndrome		OMIM:615162|UMLS:C3554609|Orphanet:357175	mondo.json	mental retardation, autosomal recessive 35|MRT35|intellectual disability, autosomal recessive 35	http://purl.obolibrary.org/obo/MONDO_0014067	Orphanet:357175|https://omim.org/entry/615162|UMLS:C3554609	ordo_malformation_syndrome
MONDO:0014066	biolink:Disease	mitochondrial complex III deficiency nuclear type 5	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene.	UMLS:C3554608|DOID:0080114|OMIM:615160	mondo.json	UQCRC2 mitochondrial complex III deficiency|mitochondrial complex III deficiency, nuclear type 5|mitochondrial complex III deficiency caused by mutation in UQCRC2|mitochondrial Complex 3 deficiency, nuclear type 5|MC3DN5	http://purl.obolibrary.org/obo/MONDO_0014066	DOID:0080114|https://omim.org/entry/615160|UMLS:C3554608	
MONDO:0014065	biolink:Disease	mitochondrial complex III deficiency nuclear type 4	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRQ gene.	OMIM:615159|DOID:0080113|UMLS:C3554607	mondo.json	mitochondrial complex III deficiency, nuclear type 4|mitochondrial complex III deficiency caused by mutation in UQCRQ|MC3DN4|mitochondrial Complex 3 deficiency, nuclear type 4|UQCRQ mitochondrial complex III deficiency	http://purl.obolibrary.org/obo/MONDO_0014065	DOID:0080113|https://omim.org/entry/615159|UMLS:C3554607	
NCBITaxon:11652	biolink:OrganismalEntity	Primate lentivirus group		GC_ID:1	mondo.json	Primate immunodeficiency viruses	http://purl.obolibrary.org/obo/NCBITaxon_11652		
MONDO:0002086	biolink:Disease	clear cell acanthoma	An acanthoma characterized by the presence of psoriasiform epidermal acanthosis and basal cells with pale cytoplasm.	DOID:172|SCTID:254670002|UMLS:C0333992|NCIT:C97041	mondo.json	Degos acanthoma|pale (clear cell) acanthoma|clear cell acanthoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0002086	UMLS:C0333992|http://identifiers.org/snomedct/254670002|DOID:172|NCIT:C97041	
MONDO:0100430	biolink:Disease	fibrotic liver disease	A liver disease characterized by the presence of excessive fibrous connective tissue in the liver.		mondo.json	liver fibrosis (disease)|hepatic fibrosis (disease)	http://purl.obolibrary.org/obo/MONDO_0100430		
MONDO:0100431	biolink:Disease	migraine without aura	A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms.	EFO:0005296|DOID:12783|UMLS:C0338480|NCIT:C117004|SCTID:56097005|MESH:D020326	mondo.json	common migraine	http://purl.obolibrary.org/obo/MONDO_0100431	http://identifiers.org/mesh/D020326|http://identifiers.org/snomedct/56097005|NCIT:C117004|UMLS:C0338480|DOID:12783	
MONDO:0002087	biolink:Disease	peritoneum cancer	A malignant neoplasm involving the peritoneum	SCTID:363492001|NCIT:C3538|ICD9:159.8|ICD9:158.8|UMLS:C0153467|ICD9:158.9|DOID:1725	mondo.json	peritoneal cavity cancer|malignant neoplasm of peritoneum|cancer of the peritoneum|malignant peritoneal neoplasm|peritoneal neoplasm|cancer of peritoneum|peritoneum cancer|peritoneal cancer|malignant peritoneum neoplasm	http://purl.obolibrary.org/obo/MONDO_0002087	NCIT:C3538|http://identifiers.org/snomedct/363492001|DOID:1725|UMLS:C0153467	
MONDO:0100432	biolink:Disease	FNIP1-associated syndrome	Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene. Disruption of Folliculin Interacting Protein 1 alters the essential metabolic regulators AMPK and mTOR, resulting in profound B-cell deficiency, hypertrophic cardiomyopathy, and pre-excitation syndrome.		mondo.json	absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy syndrome|immunodeficiency with cardiomyopathy and pre-excitation syndrome|FNIP1 deficiency	http://purl.obolibrary.org/obo/MONDO_0100432		
MONDO:0002088	biolink:Disease	partial retinal vein occlusion		UMLS:C0271080|NCIT:C35341|SCTID:65593009|DOID:1726	mondo.json	partial retinal vein occlusion|partial occlusion of retinal vein	http://purl.obolibrary.org/obo/MONDO_0002088	UMLS:C0271080|NCIT:C35341|http://identifiers.org/snomedct/65593009|DOID:1726	
MONDO:0002089	biolink:Disease	retinal vascular occlusion	An occlusion of the retinal vasculature.	UMLS:C0035326|NCIT:C34980|SCTID:73757007|ICD9:362.30|ICD10CM:H34|DOID:1729|ICD9:362.3	mondo.json	retinal vascular occlusion|retinal vascular occlusion, unspecified	http://purl.obolibrary.org/obo/MONDO_0002089	NCIT:C34980|http://purl.bioontology.org/ontology/ICD10CM/H34|UMLS:C0035326|DOID:1729|http://identifiers.org/snomedct/73757007	
MONDO:0100433	biolink:Disease	ACTB-associated syndromic thrombocytopenia	A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets.		mondo.json	ACTB-AST	http://purl.obolibrary.org/obo/MONDO_0100433		
MONDO:0002082	biolink:Disease	endocrine gland neoplasm	A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma.	SCTID:387922007|NCIT:C3010|ICD9:239.7|EFO:0003769	mondo.json	endocrine system neoplasm|endocrine gland neoplasm (disease)|neoplasm of endocrine gland|endocrine gland tumor|endocrine system tumor|malignant endocrine tumor|tumor of endocrine gland|endocrine tumor|endocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0002082	http://identifiers.org/snomedct/387922007|NCIT:C3010	
MONDO:0100434	biolink:Disease	chronic mountain sickness	A pathological condition resulting from chronic exposure to hypoxia at high altitude. The syndrome is characterized by an excessive number of red blood cells associated with a high blood hemoglobin concentration ([Hb]), hypoxemia, and, in some cases, pulmonary hypertension. Clinical signs include headache, fatigue, sleep disturbances, dyspnea, digestive complaints, and high risk of thrombotic events.	SCTID:241975000|EFO:0010143	mondo.json	Monge's disease	http://purl.obolibrary.org/obo/MONDO_0100434	http://identifiers.org/snomedct/241975000	
MONDO:0100435	biolink:Disease	Schwartz-Jampel syndrome type 1		OMIM:255800|DOID:0090005	mondo.json	SJS1|Schwartz-Jampel syndrome type 1|Chondrodystrophic myotonia|Schwartz-Jampel syndrome, type 1|Schwartz-Jampel syndrome 1|SJA syndrome	http://purl.obolibrary.org/obo/MONDO_0100435	https://omim.org/entry/255800|DOID:0090005	
MONDO:0002083	biolink:Disease	Richter syndrome	Transformation of chronic lymphocytic leukemia into aggressive non-Hodgkin's lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogues. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying chronic lymphocytic leukemia, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm.	NCIT:C35424|UMLS:C0349631|GARD:0007578|DOID:1703|SCTID:277550009	mondo.json	Richter's syndrome|Richter's transformation|Richter transformation|Richter syndrome	http://purl.obolibrary.org/obo/MONDO_0002083	NCIT:C35424|UMLS:C0349631|DOID:1703|http://identifiers.org/snomedct/277550009	
MONDO:0100436	biolink:Disease	cataract 2, multiple types	Any cataract in which the cause of the disease is a mutation in the CRYGC gene.	DOID:0110235|OMIM:604307	mondo.json	cataract 2 multiple types with or without microcornea|cataract 2, multiple types, with or without microcornea|CTRCT2|cataract, Coppock-like|cataract 2 multiple types	http://purl.obolibrary.org/obo/MONDO_0100436	https://omim.org/entry/604307|DOID:0110235	
MONDO:0002084	biolink:Disease	obsolete neuroectodermal tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002084		
MONDO:0100437	biolink:Disease	RPGR-related retinopathy	A retinopathy caused by a variant in the X-linked gene, RPGR.		mondo.json	RPGR retinitis pigmentosa|X-linked cone dystrophy 1|RP3|RPGR retinopathy|CORDX1|cone dystrophy X-linked 1|X-linked cone-rod dystrophy 1|cone dystrophy 1, X-linked|X-linked cone-rod dystrophy type 1|retinitis pigmentosa 3|COD1|retinal ciliopathy due to mutation in the RPGR gene|choroidoretinal degeneration with retinal reflex in heterozygous women|retinitis pigmentosa type 3|cone-rod dystrophy, X-linked, type 1|retinitis pigmentosa caused by mutation in RPGR|macular degeneration, X-linked atrophic|cone-rod dystrophy, X-linked, 1|retinitis pigmentosa 15|cone-rod degeneration, X-linked|cone-rod dystrophy X-linked 1	http://purl.obolibrary.org/obo/MONDO_0100437		
MONDO:0002085	biolink:Disease	benign shuddering attacks		SCTID:446995005|UMLS:C0375200|ICD9:333.93|ICD10CM:G25.83|DOID:1713	mondo.json		http://purl.obolibrary.org/obo/MONDO_0002085	http://purl.bioontology.org/ontology/ICD10CM/G25.83|http://identifiers.org/snomedct/446995005|DOID:1713|UMLS:C0375200	
MONDO:0100427	biolink:Disease	non-iatrogenic	A characteristic of a diseae in which it does not result from diagnostic and therapeutic procedures undertaken on a patient.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100427		
MONDO:0100428	biolink:Disease	progressive bulbar palsy of childhood	A progressive bulbar palsy of childhood that occurs during childhood.	UMLS:C0393540|OMIM:211500|DOID:0080632|SCTID:230246005|Orphanet:56965	mondo.json	Fazio-Londe disease	http://purl.obolibrary.org/obo/MONDO_0100428	https://omim.org/entry/211500|UMLS:C0393540|http://identifiers.org/snomedct/230246005|DOID:0080632|Orphanet:56965	
MONDO:0002080	biolink:Disease	obsolete congenital ichthyosiform erythroderma			mondo.json	obsolete congenital ichthyosiform erythroderma (disease)	http://purl.obolibrary.org/obo/MONDO_0002080		
MONDO:0100429	biolink:Disease	intrahepatic cholestasis of pregnancy	A cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.	MESH:C535932|EFO:0009048|GARD:0009804|DOID:0070227|Orphanet:69665	mondo.json	RICP|recurrent intrahepatic cholestasis of pregnancy|pregnancy-related cholestasis|intrahepatic cholestasis of pregnancy|ICP|familial intrahepatic cholestasis of pregnancy|pregnancy related cholestasis|cholestasis, intrahepatic of pregnancy|gravidic intrahepatic cholestasis|familial recurrent intrahepatic cholestasis of pregnancy	http://purl.obolibrary.org/obo/MONDO_0100429	http://identifiers.org/mesh/C535932|DOID:0070227|Orphanet:69665	
MONDO:0014059	biolink:Disease	microphthalmia, isolated, with coloboma 9	Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene.	OMIM:615145|UMLS:C3554592	mondo.json	microphthalmia, isolated, with coloboma caused by mutation in TENM3|microphthalmia, isolated, with coloboma type 9|microphthalmia, isolated, with coloboma 9|MCOPCB9|TENM3 microphthalmia, isolated, with coloboma|microphthalmia, syndromic 15	http://purl.obolibrary.org/obo/MONDO_0014059	https://omim.org/entry/615145|UMLS:C3554592	
MONDO:0002081	biolink:Disease	musculoskeletal system disorder	A disease involving the musculoskeletal system.	UMLS:C0026857|ICD9:729.99|SCTID:928000|MESH:D009140|NCIT:C107377|DOID:17	mondo.json	musculoskeletal disorder|musculoskeletal system disease or disorder|musculoskeletal disease|disorder of musculoskeletal system|disease of musculoskeletal system|disease or disorder of musculoskeletal system|musculoskeletal system disorder|musculoskeletal system disease	http://purl.obolibrary.org/obo/MONDO_0002081	http://identifiers.org/mesh/D009140|UMLS:C0026857|NCIT:C107377|DOID:17|http://identifiers.org/snomedct/928000	
MONDO:0014058	biolink:Disease	facial dysmorphism-immunodeficiency-livedo-short stature syndrome	A rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.	Orphanet:352712|OMIM:615139|UMLS:C3554576	mondo.json	fils syndrome|fils|facial dysmorphism, immunodeficiency, livedo, and short stature	http://purl.obolibrary.org/obo/MONDO_0014058	Orphanet:352712|https://omim.org/entry/615139|UMLS:C3554576	ordo_disease
GO:0035556	biolink:NamedThing	intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.		mondo.json	protein kinase cascade|intracellular signaling pathway|signal transduction via intracellular signaling cascade|intracellular signaling chain|intracellular protein kinase cascade|intracellular signaling cascade|intracellular signal transduction pathway|signal transmission via intracellular cascade	http://purl.obolibrary.org/obo/GO_0035556		
MONDO:0014053	biolink:Disease	obsolete stomatin-like protein-2, hyperphosphorylation of		OMIM:615121	mondo.json	stomatin-like protein-2, hyperphosphorylation of|hyperphosphorylated Paratarg-7	http://purl.obolibrary.org/obo/MONDO_0014053	https://omim.org/entry/615121	
MONDO:0014052	biolink:Disease	congenital myasthenic syndrome 8	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene.	UMLS:C3808739|DOID:0110657|OMIM:615120	mondo.json	myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects|congenital myasthenic syndrome type 8|myasthenic syndrome, congenital, with Pre- and postsynaptic defects|congenital myasthenic syndrome 8 with pre- and postsynaptic defects|myasthenic syndrome, congenital, type 8|congenital myasthenic syndrome due to agrin deficiency|CMS8|AGRN congenital myasthenic syndrome|congenital myasthenic syndrome caused by mutation in AGRN|myasthenic syndrome, congenital, 8|myasthenic syndrome, congenital, due to agrin deficiency|congenital myasthenic syndrome 8	http://purl.obolibrary.org/obo/MONDO_0014052	https://omim.org/entry/615120|DOID:0110657|UMLS:C3808739	
MONDO:0014051	biolink:Disease	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene.	DOID:0080358|OMIM:615119|UMLS:C3554534	mondo.json	mitochondrial complex IV deficiency, nuclear type 6|COX15 fatal infantile encephalocardiomyopathy|cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 2|fatal infantile encephalocardiomyopathy caused by mutation in COX15|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2|CEMCOX2	http://purl.obolibrary.org/obo/MONDO_0014051	DOID:0080358|https://omim.org/entry/615119|UMLS:C3554534	
MONDO:0014050	biolink:Disease	isolated microphthalmia 8	Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene.	UMLS:C3554524|OMIM:615113|DOID:0060841	mondo.json	microphthalmia, isolated 8|MCOP8|ALDH1A3 isolated microphthalmia|microphthalmia, isolated type 8|isolated microphthalmia caused by mutation in ALDH1A3|isolated microphthalmia 8|isolated microphthalmia type 8	http://purl.obolibrary.org/obo/MONDO_0014050	https://omim.org/entry/615113|UMLS:C3554524|DOID:0060841	
MONDO:0014057	biolink:Disease	maple syrup urine disease, mild variant		UMLS:C3554575|OMIM:615135	mondo.json	maple syrup urine disease, mild variant|MSUDMV	http://purl.obolibrary.org/obo/MONDO_0014057	https://omim.org/entry/615135|UMLS:C3554575	
MONDO:0014056	biolink:Disease	melanoma, cutaneous malignant, susceptibility to, 9		OMIM:615134	mondo.json	melanoma, cutaneous malignant, susceptibility to, type 9|CMM9|melanoma, cutaneous malignant, susceptibility to, 9|susceptibility to cutaneous malignant melanoma 9|melanoma, cutaneous malignant, 9	http://purl.obolibrary.org/obo/MONDO_0014056	https://omim.org/entry/615134	predisposition
MONDO:0014055	biolink:Disease	epilepsy, familial adult myoclonic, 4		DOID:0111693|OMIM:615127|UMLS:C3554560	mondo.json	epilepsy, familial ADULT myoclonic, 4|epilepsy, myoclonic, familial adult, 4|cortical myoclonic tremor with epilepsy, familial, 4|FAME4	http://purl.obolibrary.org/obo/MONDO_0014055	DOID:0111693|https://omim.org/entry/615127|UMLS:C3554560	
MONDO:0014054	biolink:Disease	lymphoproliferative syndrome 2	Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene.	UMLS:C3554540|DOID:0060708|OMIM:615122	mondo.json	lymphoproliferative syndrome type 2|lymphoproliferative syndrome caused by mutation in CD27|CD27 lymphoproliferative syndrome|LPFS2|lymphoproliferative syndrome 2	http://purl.obolibrary.org/obo/MONDO_0014054	https://omim.org/entry/615122|UMLS:C3554540|DOID:0060708	
MONDO:0004636	biolink:Disease	lip carcinoma in situ	A in situ carcinoma that involves the lip.	SCTID:92643000|DOID:8661|NCIT:C4588|UMLS:C0347082|ICD9:230.0|UMLS:C4316815	mondo.json	lip in situ carcinoma|stage 0 Lip cancer|stage 0 carcinoma of the Lip|stage 0 carcinoma of Lip|carcinoma in situ of lip|carcinoma in situ of the Lip|stage 0 cancer of the Lip|stage 0 cancer of Lip|stage 0 Lip cancer aJCC v7|stage 0 Lip cancer aJCC v6|stage 0 Lip cancer aJCC v6 and v7|stage 0 lip carcinoma	http://purl.obolibrary.org/obo/MONDO_0004636	NCIT:C4588|DOID:8661|http://identifiers.org/snomedct/92643000|UMLS:C4316815|UMLS:C0347082	
UBERON:0013491	biolink:AnatomicalEntity	cervical fascia			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013491		
MONDO:0004635	biolink:Disease	postcricoid region cancer	A primary or metastatic malignant neoplasm that affects the postcricoid region.	DOID:8660|UMLS:C0496769|SCTID:363400004|ICD9:148.0|NCIT:C9323	mondo.json	malignant postcricoid neoplasm|malignant postcricoid tumor|malignant tumor of postcricoid area|malignant tumor of the postcricoid area|malignant tumor of pharyngoesophageal junction|malignant neoplasm of postcricoid area|malignant neoplasm of the postcricoid area	http://purl.obolibrary.org/obo/MONDO_0004635	DOID:8660|UMLS:C0496769|http://identifiers.org/snomedct/363400004|NCIT:C9323	
MONDO:0004638	biolink:Disease	lymphosarcoma	An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes.	SCTID:373168002|SCTID:188498009|ICD9:200.7|GARD:0006946|SCTID:118601006|NCIT:C27824|NCIT:C26919|ICD9:200.1|ICD9:200.10|DOID:8675|ICD9:200.0	mondo.json	malignant lymphoma (category)|lymphosarcoma|diffuse lymphoma	http://purl.obolibrary.org/obo/MONDO_0004638	NCIT:C26919|http://identifiers.org/snomedct/188498009	gard_rare
UBERON:0013493	biolink:AnatomicalEntity	abdominal fascia			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013493		
MONDO:0004637	biolink:Disease	aryepiglottic fold cancer	A malignant neoplasm involving the aryepiglottic fold.	DOID:8663|ICD9:148.2|SCTID:187708004|ICD10CM:C13.1	mondo.json	malignant tumor aryepiglottic fold - hypopharyngeal aspect|cancer of aryepiglottic fold|aryepiglottic fold cancer|malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold|malignant neoplasm of aryepiglottic fold|malignant aryepiglottic fold neoplasm	http://purl.obolibrary.org/obo/MONDO_0004637	http://identifiers.org/snomedct/187708004|DOID:8663|http://purl.bioontology.org/ontology/ICD10CM/C13.1	
MONDO:0004632	biolink:Disease	obsolete Hodgkin's granuloma	OBSOLETE. An obsolete term referring to Hodgkin lymphoma.	ICD9:201.9|ICD9:201.7|ICD9:201.6|NCIT:C3517|ICDO:9661/3|SCTID:118602004|ICD9:201.4|NCIT:C6913|ICD9:201.2|NCIT:C26956|ICD9:201.1|SCTID:118610003|ICD9:201.0|ICD9:201|DOID:8651|SCTID:118609008|NCIT:C6914|SCTID:118607005	mondo.json	Hodgkin's granuloma of unspecified site|Hodgkin's granuloma|Hodgkin's granuloma, unspecified site, extranodal and solid organ sites|Hodgkin granuloma	http://purl.obolibrary.org/obo/MONDO_0004632	DOID:8651|http://identifiers.org/snomedct/118602004|NCIT:C6914	
MONDO:0004631	biolink:Disease	tongue cancer	A malignant neoplasm affecting the tongue. The vast majority of cases are carcinomas.	ICD9:141.6|SCTID:363360003|ICD9:141.5|NCIT:C9345|ICD9:141.3|ICD9:141.2|DOID:8649|ICD9:141.1|MESH:D014062|ICD9:141.0|GARD:0007779|ICD9:141|ICD9:141.4|ICD9:141.9	mondo.json	malignant tumor of posterior tongue|malignant tumor of lingual tonsil (disorder)|cancer of tongue|tongue neoplasm, malignant|malignant tumor of base of tongue|malignant tongue tumor|malignant neoplasm of dorsum of tongue|malignant neoplasm of tongue|malignant tongue neoplasm|malignant neoplasm of dorsal surface of tongue|malignant neoplasm of anterior two-thirds of tongue|malignant neoplasm of tip and/or lateral border of tongue|malignant neoplasm of tip and lateral border of tongue|malignant neoplasm of ventral surface of tongue|tongue cancer|malignant neoplasm of fixed part of tongue NOS|malignant neoplasm of mobile part of tongue NOS|malignant neoplasm of anterior two-thirds of tongue, part unspecified|malignant neoplasm of base of tongue|malignant neoplasm of lingual tonsil|malignant neoplasm of dorsal tongue NOS|tongue neoplasm malignant|malignant neoplasm of mobile part of tongue|malignant neoplasm of fixed part of tongue|malignant neoplasm of anterior 2/3 of tongue|malignant neoplasm of dorsal tongue|malignant neoplasm of tongue, tip and lateral border|tongue carcinoma|malignant tumor of anterior two-thirds of tongue|tongue neoplasm malignant stage unspecified|malignant neoplasm of ventral tongue surface|malignant neoplasm of border of tongue|malignant tumor of lingual tonsil|malignant tumor of tongue|malignant neoplasm of junctional zone of tongue|malignant neoplasm of tongue, NOS|malignant tumor of the tongue|malignant neoplasm of other sites of tongue|malignant neoplasm of tongue NOS|malignant tumor of mobile part of tongue|malignant neoplasm of the tongue	http://purl.obolibrary.org/obo/MONDO_0004631	DOID:8649|http://identifiers.org/mesh/D014062|NCIT:C9345|http://identifiers.org/snomedct/363360003	gard_rare
MONDO:0004634	biolink:Disease	vein disorder	A disease involving the vein.	SCTID:90507008|ICD9:453|UMLS:C0235522|DOID:866	mondo.json	disease of vein|disease or disorder of vein|vein disease|vein disease or disorder|disorder of vein	http://purl.obolibrary.org/obo/MONDO_0004634	http://identifiers.org/snomedct/90507008|UMLS:C0235522|DOID:866	
MONDO:0004633	biolink:Disease	Hodgkin's lymphoma, mixed cellularity	A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008)	ICDO:9652/3|ICD9:201.6|Orphanet:98844|SCTID:118609008|DOID:8654|NCIT:C3517|ONCOTREE:MCCHL	mondo.json	Hodgkin lymphoma, mixed cellularity|mixed cellularity Hodgkin lymphoma|Hodgkin's disease, mixed cellularity of unspecified site|Mixed cellularity Classic Hodgkin lymphoma|MCHL|mixed cellularity Hodgkin's disease|Hodgkin's disease mixed cellularity|classic Hodgkin lymphoma, mixed cellularity type|MCCHL|mixed cellularity Hodgkin's lymphoma|mixed cellularity classical Hodgkin lymphoma|Hodgkin's disease, mixed cellularity|Hodgkin's lymphoma mixed cellularity	http://purl.obolibrary.org/obo/MONDO_0004633	DOID:8654|NCIT:C3517|Orphanet:98844|http://identifiers.org/snomedct/118609008	ordo_histopathological_subtype
MONDO:0004630	biolink:Disease	substance-induced psychosis		DOID:8646|ICD9:293.89	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004630	DOID:8646	
MONDO:0016618	biolink:Disease	rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies		Orphanet:247861	mondo.json	juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies|rheumatoid factor-negative JIA without anti-nuclear antibodies|polyarthritis without rheumatoid factor without anti-nuclear antibodies	http://purl.obolibrary.org/obo/MONDO_0016618	Orphanet:247861	ordo_etiological_subtype
NCBITaxon:155616	biolink:OrganismalEntity	Tremellomycetes		GC_ID:1|PMID:26955199	mondo.json	Tremellomycetidae|Heterobasidiomycetes	http://purl.obolibrary.org/obo/NCBITaxon_155616		
MONDO:0016619	biolink:Disease	autosomal recessive hypohidrotic ectodermal dysplasia	A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations.	SCTID:27025001|UMLS:C0406702|NCIT:C84580|MESH:D053360|Orphanet:248|GARD:0002057	mondo.json	AR-HED|autosomal recessive anhidrotic ectodermal dysplasia|hypohidrotic ectodermal dysplasia autosomal recessive|hypohidrotic ectodermal dysplasia, autosomal recessive|anhidrotic ectodermal dysplasia, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016619	NCIT:C84580|UMLS:C0406702|Orphanet:248|http://identifiers.org/snomedct/27025001|http://identifiers.org/mesh/D053360	gard_rare|ordo_etiological_subtype
UBERON:0013498	biolink:AnatomicalEntity	vestibulo-cochlear VIII ganglion complex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013498		
MONDO:0016625	biolink:Disease	acquired deficiency anemia	An instance of deficiency anemia that is acquired during the lifetime of the individual.	UMLS:CN226976|Orphanet:248302	mondo.json	rare acquired deficiency anemia	http://purl.obolibrary.org/obo/MONDO_0016625	UMLS:CN226976|Orphanet:248302	ordo_group_of_disorders|disease_grouping
MONDO:0016626	biolink:Disease	obsolete hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency		Orphanet:248305	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016626	Orphanet:248305	ordo_disease
MONDO:0016627	biolink:Disease	obsolete rare hemorrhagic disorder		Orphanet:248308|UMLS:CN226978	mondo.json	rare coagulopathy|rare bleeding disorder	http://purl.obolibrary.org/obo/MONDO_0016627	UMLS:CN226978|Orphanet:248308	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0016628	biolink:Disease	obsolete hemorrhagic disorder due to a coagulation factors defect		UMLS:CN226979|Orphanet:248315	mondo.json	rare bleeding disorder due to a coagulation factors defect|rare coagulopathy due to a coagulation factor defect	http://purl.obolibrary.org/obo/MONDO_0016628	UMLS:CN226979|Orphanet:248315	ordo_group_of_disorders
MONDO:0016621	biolink:Disease	juvenile Huntington disease	Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age.	GARD:0010510|SCTID:230299004|NCIT:C147072|UMLS:C0751208|Orphanet:248111	mondo.json	juvenile Huntington chorea|juvenile onset HD|JHD|Huntington disease, juvenile onset	http://purl.obolibrary.org/obo/MONDO_0016621	NCIT:C147072|http://identifiers.org/snomedct/230299004|UMLS:C0751208|Orphanet:248111	gard_rare|ordo_disease
MONDO:0016622	biolink:Disease	Melhem-Fahl syndrome	Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.	UMLS:C2931453|SCTID:732263008|MESH:C537238|GARD:0003462|Orphanet:2482	mondo.json	Melhem Fahl syndrome|fifteen dorsal vertebrae and rib pairs	http://purl.obolibrary.org/obo/MONDO_0016622	Orphanet:2482|http://identifiers.org/mesh/C537238|http://identifiers.org/snomedct/732263008|UMLS:C2931453	gard_rare|ordo_malformation_syndrome|n_of_one
MONDO:0016623	biolink:Disease	obsolete rare deficiency anemia	OBSOLETE. Any of the forms of deficiency anemia that have a rare incidence.	Orphanet:248293	mondo.json	rare deficiency anemia	http://purl.obolibrary.org/obo/MONDO_0016623	Orphanet:248293	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0016624	biolink:Disease	inherited deficiency anemia		Orphanet:248296	mondo.json	constitutional rare deficiency anemia	http://purl.obolibrary.org/obo/MONDO_0016624	Orphanet:248296	disease_grouping|ordo_group_of_disorders
MONDO:0016620	biolink:Disease	primary hypertrophic osteoarthropathy	A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy.	MedDRA:10051686|UMLS:CN202658|Orphanet:248095|SCTID:88220006|UMLS:C0029411|DOID:14283|Orphanet:2796|NCIT:C85023|OMIMPS:259100|MESH:D010004|GARD:0007299	mondo.json	Touraine Solente Gole syndrome|hypertrophic osteoarthropathy, primary|Touraine-Solente-Gole syndrome|hypertrophic osteoarthropathy, primary, autosomal recessive, 1|hypertrophic osteoarthropathy, primary, autosomal recessive, type 1|PHOAR1|hypertropic osteoarthropathy, primary|pachydermoperiostosis of nail|PDP|pachydermoperiostosis syndrome|idiopathic hypertrophic osteoarthropathy|PHO|pachydermoperiostosis of nail [ambiguous]|pachydermoperiostosis	http://purl.obolibrary.org/obo/MONDO_0016620	UMLS:CN202658|Orphanet:2796|DOID:14283|Orphanet:248095|http://identifiers.org/snomedct/88220006|http://identifiers.org/mesh/D010004|NCIT:C85023|https://omim.org/phenotypicSeries/PS259100|UMLS:C0029411	disease_grouping|ordo_group_of_disorders|ordo_malformation_syndrome
HGNC:8011	biolink:NamedThing	CNTNAP1			mondo.json		http://identifiers.org/hgnc/8011		
MONDO:0004629	biolink:Disease	subacute delirium		ICD9:293.1|SCTID:191507002|DOID:8645	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004629	DOID:8645|http://identifiers.org/snomedct/191507002	
MONDO:0004628	biolink:Disease	gastroduodenitis		ICD9:535.4|UMLS:C0267166|ICD9:535.50|SCTID:196731005|DOID:8644	mondo.json	peptic ulcer gastroduodenitis|gastritis and duodenitis|gastroduodenitis	http://purl.obolibrary.org/obo/MONDO_0004628	DOID:8644|http://identifiers.org/snomedct/196731005|UMLS:C0267166	
MONDO:0004647	biolink:Disease	in situ carcinoma	A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion.	ICD9:234.8|DOID:8719|UMLS:C0007099|SCTID:109355002|ICD9:234.9|NCIT:C2917|MESH:D002278|ICD9:230-234.99|ICDO:8010/2	mondo.json	stage 0 disease|intraepithelial carcinoma|epithelial tumor, in situ, malignant|CIS|non-invasive carcinoma|carcinoma in situ|carcinoma, in situ, malignant	http://purl.obolibrary.org/obo/MONDO_0004647	DOID:8719|http://identifiers.org/mesh/D002278|http://identifiers.org/snomedct/109355002|NCIT:C2917|UMLS:C0007099	
MONDO:0004646	biolink:Disease	decubitus ulcer	Death of tissue due to external pressure.	ICD9:707.0|SCTID:399912005|DOID:8717|UMLS:C0011127|MESH:D003668|ICD9:707.00|EFO:0007067	mondo.json	pressure ulcer|decubitus ulcer, elbow|decubitus (pressure) ulcer|decubitus ulcer, other site|bedsore|decubitus ulcer, lower back|decubitus ulcer, upper back|decubitus ulcer any site|pressure sores|decubitus ulcer	http://purl.obolibrary.org/obo/MONDO_0004646	DOID:8717|http://identifiers.org/mesh/D003668|http://identifiers.org/snomedct/399912005|UMLS:C0011127	
MONDO:0004649	biolink:Disease	anaerobic pneumonia	A pneumonia caused by anaerobic bacteria.	SCTID:409664000|UMLS:C1443976|ICD9:482.89|DOID:873|ICD9:482.81	mondo.json	pneumonia due to anaerobic bacteria|pneumonia due to anaerobes|pneumonia caused by anaerobic bacteria	http://purl.obolibrary.org/obo/MONDO_0004649	UMLS:C1443976|http://identifiers.org/snomedct/409664000	
MONDO:0004648	biolink:Disease	vascular dementia	A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions.	EFO:0004718|ICD9:290.4|DOID:8725|MESH:D015140|NCIT:C34525|SCTID:429998004|UMLS:C0011269	mondo.json	vascular dementia|multifocal dementia|multi infarct dementia	http://purl.obolibrary.org/obo/MONDO_0004648	http://identifiers.org/mesh/D015140|DOID:8725|NCIT:C34525|UMLS:C0011269|http://identifiers.org/snomedct/429998004	
CHEBI:24651	biolink:ChemicalSubstance	hydroxides	Hydroxides are chemical compounds containing a hydroxy group or salts containing hydroxide (OH(-)).		mondo.json		http://purl.obolibrary.org/obo/CHEBI_24651		
MONDO:0004643	biolink:Disease	myeloid leukemia	A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia.	DOID:8692|ICD9:205|ICDO:9860/3|ICD9:205.80|ICD9:205.9|SCTID:188732008|NCIT:C3172|ICD9:205.90|GARD:0008226|MESH:D007951|UMLS:C0023470	mondo.json	myeloid granulocytic leukemia|non-lymphoblastic leukemia|myelocytic leukemia|non-lymphocytic leukemia|leukemia, granulocytic, malignant|leukemia granulocytic|myeloid leukemia|leukemia myelogenous|myelogenous leukemia|leukemia myeloid	http://purl.obolibrary.org/obo/MONDO_0004643	UMLS:C0023470|http://identifiers.org/mesh/D007951|http://identifiers.org/snomedct/188732008|NCIT:C3172|DOID:8692	gard_rare
MONDO:0004642	biolink:Disease	tonsillar pillar cancer	A cancer that involves the tonsillar pillar.	UMLS:C0153385|ICD10CM:C09.1|ICD9:146.2|SCTID:187675005|DOID:8688	mondo.json	malignant neoplasm of tonsillar pillar|malignant tumour of tonsillar pillar|malignant neoplasm of tonsillar pillars, posterior|malignant tumor of tonsillar pillar	http://purl.obolibrary.org/obo/MONDO_0004642	http://identifiers.org/snomedct/187675005|http://purl.bioontology.org/ontology/ICD10CM/C09.1|UMLS:C0153385|DOID:8688	
MONDO:0004645	biolink:Disease	cheek mucosa cancer	A malignant neoplasm involving the buccal mucosa.	UMLS:C0153373|DOID:8702|NCIT:C9320|ICD9:145.0|SCTID:363386008	mondo.json	cancer of buccal mucosa|malignant buccal mucosa tumor|malignant neoplasm of the buccal mucosa|buccal mucosa cancer|malignant tumor of the buccal mucosa|malignant tumor of buccal mucosa|malignant neoplasm of buccal mucosa|malignant neoplasm of cheek, inner aspect|malignant buccal mucosa neoplasm	http://purl.obolibrary.org/obo/MONDO_0004645	DOID:8702|NCIT:C9320|http://identifiers.org/snomedct/363386008|UMLS:C0153373	
MONDO:0004644	biolink:Disease	subacute monocytic leukemia		ICD9:206.2|UMLS:C0152275|ICD9:206.20|SCTID:188746008|DOID:8696	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004644	DOID:8696|http://identifiers.org/snomedct/188746008|UMLS:C0152275	
MONDO:0004641	biolink:Disease	skin carcinoma in situ	A in situ carcinoma that involves the zone of skin.	NCIT:C3640|ICD9:232.7|ICD9:232.6|ICD9:232.5|ICD9:232.4|ICD9:232.3|DOID:8687|ICD9:232.2|ICD10CM:D04|UMLS:C0154073|SCTID:92749008|ICD9:232.0|ICD9:232.9|ICD9:232|ICD9:232.8	mondo.json	zone of skin carcinoma in situ|skin carcinoma stage 0|stage 0 skin cancer aJCC v7|stage 0 skin cancer aJCC v6|carcinoma in situ of the skin|stage 0 zone of skin carcinoma|carcinoma of skin stage 0|cutaneous carcinoma in situ|carcinoma of the skin stage 0|stage 0 nonmelanoma skin carcinoma in situ|skin cancer stage 0|stage 0 skin cancer|nonmelanoma carcinoma in situ|stage 0 skin carcinoma|skin carcinoma in situ|zone of skin in situ carcinoma|carcinoma in situ of skin|carcinoma in situ of zone of skin	http://purl.obolibrary.org/obo/MONDO_0004641	NCIT:C3640|http://purl.bioontology.org/ontology/ICD10CM/D04|UMLS:C0154073|http://identifiers.org/snomedct/92749008|DOID:8687	
MONDO:0004640	biolink:Disease	alcoholic gastritis	Inflammation of the stomach resulting from alcohol ingestion.	DOID:8680|ICD10CM:K29.2|ICD9:535.30|NCIT:C26977|UMLS:C0156076|ICD9:535.3|SCTID:2043009	mondo.json	alcoholic gastritis, without mention of hemorrhage|alcoholic gastritis, with hemorrhage|alcoholic gastritis	http://purl.obolibrary.org/obo/MONDO_0004640	http://identifiers.org/snomedct/2043009|UMLS:C0156076|http://purl.bioontology.org/ontology/ICD10CM/K29.2|NCIT:C26977|DOID:8680	
MONDO:0016607	biolink:Disease	odontohypophosphatasia	Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities.	Orphanet:247685|ICD10CM:E83.3|SCTID:708672004|NCIT:C131309|MESH:C564146|UMLS:C1840322	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016607	UMLS:C1840322|Orphanet:247685|http://identifiers.org/snomedct/708672004|http://identifiers.org/mesh/C564146|NCIT:C131309	ordo_clinical_subtype
CHR:9606-chr7p2	biolink:NamedThing	7p2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr7p2		
MONDO:0016608	biolink:Disease	megalencephaly	A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome).	HP:0001355|MESH:D058627|SCTID:9740002|ICD9:742.4|Orphanet:2477|MedDRA:10050183	mondo.json	macroencephaly|megalencephaly|megalencephaly (disease)	http://purl.obolibrary.org/obo/MONDO_0016608	http://identifiers.org/snomedct/9740002|http://identifiers.org/mesh/D058627|Orphanet:2477	ordo_malformation_syndrome
MONDO:0016609	biolink:Disease	inflammatory myopathy with abundant macrophages	Inflammatory myopathy with abundant macrophages is a rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI.	Orphanet:247718|SCTID:766706007|UMLS:CN201809	mondo.json	imam	http://purl.obolibrary.org/obo/MONDO_0016609	Orphanet:247718|http://identifiers.org/snomedct/766706007|UMLS:CN201809	ordo_disease
MONDO:0016614	biolink:Disease	autosomal recessive ataxia due to PEX10 deficiency		Orphanet:247815|UMLS:CN201819	mondo.json	mild peroxismal disorder due to PEX10 deficiency	http://purl.obolibrary.org/obo/MONDO_0016614	Orphanet:247815|UMLS:CN201819	ordo_disease
HGNC:8028	biolink:NamedThing	NTHL1			mondo.json		http://identifiers.org/hgnc/8028		
MONDO:0016615	biolink:Disease	oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies		Orphanet:247839|UMLS:CN201823|ICD10CM:M08.4	mondo.json	pauciarticular chronic arthritis with anti-nuclear antibodies|oligoarticular JIA with anti-nuclear antibodies	http://purl.obolibrary.org/obo/MONDO_0016615	Orphanet:247839|UMLS:CN201823	ordo_etiological_subtype
MONDO:0016616	biolink:Disease	oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies		UMLS:CN201824|ICD10CM:M08.4|Orphanet:247846	mondo.json	pauciarticular chronic arthritis without anti-nuclear antibodies|oligoarticular JIA without anti-nuclear antibodies	http://purl.obolibrary.org/obo/MONDO_0016616	Orphanet:247846|UMLS:CN201824	ordo_etiological_subtype
MONDO:0016617	biolink:Disease	rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies		Orphanet:247854	mondo.json	rheumatoid factor-negative JIA with anti-nuclear antibodies|juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies|polyarthritis without rheumatoid factor with anti-nuclear antibodies	http://purl.obolibrary.org/obo/MONDO_0016617	Orphanet:247854	ordo_etiological_subtype
MONDO:0016610	biolink:Disease	idiopathic eosinophilic myositis		Orphanet:247724	mondo.json	idiopathic eosinophilia-associated myopathy	http://purl.obolibrary.org/obo/MONDO_0016610	Orphanet:247724	ordo_disease
MONDO:0016611	biolink:Disease	lipoblastoma	A lipoma usually occurring in the extremities of young children (usually boys). It is characterized by lobules of adipose tissue, separated by fibrous septa. The adipose tissue is composed of mature adipocytes and lipoblasts. The lipoblasts may be scarce, depending on the age of the patient.	NCIT:C27483|GARD:0012015|SCTID:400102008|MESH:D062689|UMLS:C1260965|Orphanet:247762	mondo.json	embryonic lipoma|infantile lipoma|fetal lipoma	http://purl.obolibrary.org/obo/MONDO_0016611	http://identifiers.org/mesh/D062689|UMLS:C1260965|http://identifiers.org/snomedct/400102008|NCIT:C27483|Orphanet:247762	ordo_disease|gard_rare
MONDO:0016612	biolink:Disease	X-linked cerebellar ataxia	X-linked form of cerebellar ataxia.	DOID:0050953|Orphanet:247765	mondo.json	cerebellar ataxia, X-linked|hereditary ataxia, X-linked|X-linked hereditary ataxia	http://purl.obolibrary.org/obo/MONDO_0016612	Orphanet:247765|DOID:0050953	ordo_group_of_disorders|disease_grouping
MONDO:0016613	biolink:Disease	APC-related attenuated familial adenomatous polyposis		OMIM:175100|Orphanet:247806|UMLS:CN201818	mondo.json	APC-related attenuated familial polyposis coli|APC-related AFAP|APC-related attenuated FAP|APC-related attenuated familial adenomatous polyposis	http://purl.obolibrary.org/obo/MONDO_0016613	Orphanet:247806|UMLS:CN201818	ordo_clinical_subtype
NCBITaxon:574145	biolink:OrganismalEntity	Demodex brevis		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_574145		
HGNC:8021	biolink:NamedThing	NT5E			mondo.json		http://identifiers.org/hgnc/8021		
HGNC:8022	biolink:NamedThing	NT5C2			mondo.json		http://identifiers.org/hgnc/8022		
MONDO:0004639	biolink:Disease	perinatal necrotizing enterocolitis	A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract.	GARD:0009767|SCTID:397729009|DOID:8677	mondo.json	necrotizing enterocolitis|necrotizing enterocolitis in fetus or newborn|pseudomembranous enterocolitis in newborn|enterocolitis, necrotizing|enterocolitis necrotizing|perinatal necrotising enterocolitis	http://purl.obolibrary.org/obo/MONDO_0004639	http://identifiers.org/snomedct/397729009|DOID:8677	
HGNC:8024	biolink:NamedThing	NTF4			mondo.json		http://identifiers.org/hgnc/8024		
MONDO:0004614	biolink:Disease	chronic monocytic leukemia	Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (myeloid progenitor cells) in the bone marrow and other sites.	SCTID:188745007|ICD9:206.1|ICD9:206.11|UMLS:C0023466|DOID:8593|ICD9:206.10|NCIT:C34774	mondo.json	monocytic leukemia, chronic	http://purl.obolibrary.org/obo/MONDO_0004614	http://identifiers.org/snomedct/188745007|DOID:8593|NCIT:C34774|UMLS:C0023466	
CHEBI:24621	biolink:ChemicalSubstance	hormone	Originally referring to an endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function, the term is now commonly used to include non-endogenous, semi-synthetic and fully synthetic analogues of such compounds.		mondo.json	hormones|endocrine	http://purl.obolibrary.org/obo/CHEBI_24621		
MONDO:0004613	biolink:Disease	acute intestinal ischemia	Ischemia of the intestine that is rapid in onset.	UMLS:C0001363|DOID:8590|SCTID:91489000|ICD9:557.0|NCIT:C34356	mondo.json	acute intestinal vascular insufficiency|acute intestinal ischemia	http://purl.obolibrary.org/obo/MONDO_0004613	http://identifiers.org/snomedct/91489000|DOID:8590|UMLS:C0001363|NCIT:C34356	
MONDO:0004616	biolink:Disease	herpetic whitlow	A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2.	ICD9:054.6|UMLS:C0153042|SCTID:43891009|DOID:8607|NCIT:C128402	mondo.json	herpetic felon|Simplexvirus caused paronychia (disease)|Simplexvirus paronychia (disease)	http://purl.obolibrary.org/obo/MONDO_0004616	UMLS:C0153042|DOID:8607|NCIT:C128402|http://identifiers.org/snomedct/43891009	
MONDO:0004615	biolink:Disease	upper gum cancer	A cancer involving a gingiva of upper jaw.	UMLS:C0153365|SCTID:363383000|DOID:8601|ICD9:143.0	mondo.json	malignant neoplasm of gingiva of upper jaw|malignant tumor of upper gingiva|malignant tumour of upper gum|gingiva of upper jaw cancer|cancer of gingiva of upper jaw|malignant gingiva of upper jaw neoplasm	http://purl.obolibrary.org/obo/MONDO_0004615	http://identifiers.org/snomedct/363383000|UMLS:C0153365|DOID:8601	
UBERON:0013472	biolink:AnatomicalEntity	upper esophagus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013472		
MONDO:0004610	biolink:Disease	obsolete multiple carboxylase deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004610		
MONDO:0004612	biolink:Disease	malignant histiocytosis	Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of macrophages and dendritic cells.	DOID:2570|MESH:D054747|UMLS:C0019623|NCIT:C7202|ICD9:202.3|DOID:8580|ICD10CM:C96.A|EFO:1001499|MESH:D015620|SCTID:118612006|ICDO:9750/3	mondo.json	Stewart's granuloma|malignant reticulosis|malignant histiocytic disorders|malignant midline reticulosis|histiocytic disorder, malignant|disorders, malignant histiocytic|malignant histiocytic disease|histiocytic medullary reticulosis	http://purl.obolibrary.org/obo/MONDO_0004612	DOID:2570|http://identifiers.org/snomedct/118612006|http://identifiers.org/mesh/D015620|NCIT:C7202|UMLS:C0019623	
MONDO:0004611	biolink:Disease	soft palate cancer	A primary or metastatic malignant neoplasm that affects the soft palate.	UMLS:C0153376|SCTID:363388009|ICD9:145.3|ICD10CM:C05.1|NCIT:C3529|DOID:8578	mondo.json	soft palate cancer|malignant tumor of soft palate|malignant tumor of the soft palate|malignant neoplasm of soft palate|malignant soft palate neoplasm|malignant neoplasm of the soft palate|cancer of soft palate|malignant soft palate tumor	http://purl.obolibrary.org/obo/MONDO_0004611	UMLS:C0153376|DOID:8578|NCIT:C3529|http://identifiers.org/snomedct/363388009|http://purl.bioontology.org/ontology/ICD10CM/C05.1	
UBERON:0013478	biolink:AnatomicalEntity	cecal tonsil			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013478		
UBERON:0013479	biolink:AnatomicalEntity	lung endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013479		
MONDO:0016603	biolink:Disease	citrullinemia type II	Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.	Orphanet:247585|NCIT:C150603|SCTID:716863007	mondo.json	citrullinemia type II|citrullinemia type 2|adult-onset type 2 citrullinemia|adult-onset citrin deficiency|CTLN2|adult-onset type II citrullinemia	http://purl.obolibrary.org/obo/MONDO_0016603	Orphanet:247585|NCIT:C150603|http://identifiers.org/snomedct/716863007	ordo_disease
UBERON:0001491	biolink:AnatomicalEntity	wrist joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001491		
MONDO:0016604	biolink:Disease	dysraphism-cleft lip/palate-limb reduction defects syndrome		UMLS:CN201798|GARD:0003438|Orphanet:2476	mondo.json	dysraphism, cleft lip/palate, limb reduction defects|Medeira-Dennis-Donnai syndrome	http://purl.obolibrary.org/obo/MONDO_0016604	Orphanet:2476|UMLS:CN201798	ordo_malformation_syndrome
UBERON:0001490	biolink:AnatomicalEntity	elbow joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001490		
MONDO:0016605	biolink:Disease	perinatal lethal hypophosphatasia	A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.	ICD10CM:E83.3|UMLS:C2673477|Orphanet:247623	mondo.json	perinatal lethal Rathburn disease|perinatal lethal phosphoethanolaminuria	http://purl.obolibrary.org/obo/MONDO_0016605	Orphanet:247623|UMLS:C2673477	ordo_clinical_subtype
UBERON:0001493	biolink:AnatomicalEntity	axillary nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001493		
MONDO:0016606	biolink:Disease	obsolete prenatal benign hypophosphatasia	OBSOLETE. Prenatal benign hypophosphatasia (PB-HPP) is a very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later develop into the milder infantile, childhood or adult forms of the disease.	UMLS:CN201801|Orphanet:247638|ICD10CM:E83.3	mondo.json	prenatal benign phosphoethanolaminuria|prenatal benign Rathburn disease	http://purl.obolibrary.org/obo/MONDO_0016606	Orphanet:247638|UMLS:CN201801	ordo_clinical_subtype
UBERON:0001492	biolink:AnatomicalEntity	radial nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001492		
MONDO:0016600	biolink:Disease	acute neonatal citrullinemia type I	Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.	Orphanet:247546|UMLS:CN201793	mondo.json	classic citrullinemia type I|acute neonatal citrullinemia type 1|classic citrullinemia type 1	http://purl.obolibrary.org/obo/MONDO_0016600	Orphanet:247546|UMLS:CN201793	ordo_clinical_subtype
MONDO:0016601	biolink:Disease	adult-onset citrullinemia type I	Adult-onset citrullinemia type I is a form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.	Orphanet:247573|UMLS:CN201794	mondo.json	adult-onset citrullinemia type 1|late-onset citrullinemia type I|late-onset citrullinemia type 1	http://purl.obolibrary.org/obo/MONDO_0016601	Orphanet:247573|UMLS:CN201794	ordo_clinical_subtype
MONDO:0016602	biolink:Disease	citrin deficiency	Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).	SCTID:429735007|Orphanet:247582|UMLS:C1997910	mondo.json	citrin deficiency	http://purl.obolibrary.org/obo/MONDO_0016602	Orphanet:247582|UMLS:C1997910|http://identifiers.org/snomedct/429735007	ordo_group_of_disorders|disease_grouping
HGNC:8032	biolink:NamedThing	NTRK2			mondo.json		http://identifiers.org/hgnc/8032		
GO:0060537	biolink:NamedThing	muscle tissue development	The progression of muscle tissue over time, from its initial formation to its mature state. Muscle tissue is a contractile tissue made up of actin and myosin fibers.		mondo.json		http://purl.obolibrary.org/obo/GO_0060537		
UBERON:0001499	biolink:AnatomicalEntity	muscle of arm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001499		
HGNC:8031	biolink:NamedThing	NTRK1			mondo.json		http://identifiers.org/hgnc/8031		
UBERON:0001498	biolink:AnatomicalEntity	muscle of pes			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001498		
MONDO:0004607	biolink:Disease	vallecula cancer	A cancer involving a epiglottic vallecula.	DOID:8556|ICD10CM:C10.0|UMLS:C0153386|ICD9:146.3|SCTID:363395000	mondo.json	epiglottic vallecula cancer|malignant tumor of vallecula|cancer of epiglottic vallecula|malignant epiglottic vallecula neoplasm|malignant neoplasm of epiglottic vallecula	http://purl.obolibrary.org/obo/MONDO_0004607	http://identifiers.org/snomedct/363395000|UMLS:C0153386|DOID:8556|http://purl.bioontology.org/ontology/ICD10CM/C10.0	
GO:0072511	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0072511		
MONDO:0004606	biolink:Disease	obsolete pyoderma gangrenosum			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004606		
UBERON:0001494	biolink:AnatomicalEntity	ulnar nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001494		
UBERON:0001497	biolink:AnatomicalEntity	muscle of pelvic girdle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001497		
MONDO:0004609	biolink:Disease	herpes simplex infectious disease	A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.)	ICD9:058.89|EFO:1002022|MESH:D006561|SCTID:88594005|DOID:8566|ICD10CM:B00|ICD9:054|UMLS:C0019348	mondo.json	Simplexvirus disease or disorder|Simplexvirus infectious disease|herpes simplex infection|Simplexvirus caused disease or disorder|herpes simplex|herpes simplex complex|herpes simplex viral infection|Herpesvirus hominis disease	http://purl.obolibrary.org/obo/MONDO_0004609	http://purl.bioontology.org/ontology/ICD10CM/B00|UMLS:C0019348|http://identifiers.org/mesh/D006561|DOID:8566|http://identifiers.org/snomedct/88594005	
MONDO:0004608	biolink:Disease	oropharynx cancer	A primary or metastatic malignant neoplasm that affects the oropharynx.	ICD9:146.6|UMLS:C0153390|UMLS:C0153382|ICD9:146.5|DOID:8557|GARD:0009358|UMLS:C0153389|UMLS:C3165521|ICD10CM:C10|ICD9:146|MESH:D009959|EFO:1001931|ICD9:146.9|UMLS:C2349952|NCIT:C7398|ICD9:146.7	mondo.json	oropharyngeal carcinoma|malignant neoplasm of the oropharynx|oropharyngeal cancer|malignant oropharyngeal tumor|malignant neoplasm of oropharynx|malignant tumour of mesopharynx|malignant neoplasm of junctional region of oropharynx|primary malignant neoplasm of lateral wall of oropharynx|malignant tumor of posterior wall of oropharynx|oropharynx cancer|malignant tumor of oropharynx|malignant oropharyngeal neoplasm|malignant tumor of the oropharynx|malignant neoplasm of posterior wall of oropharynx|malignant neoplasm of lateral wall of oropharynx|malignant oropharynx neoplasm|cancer of oropharynx	http://purl.obolibrary.org/obo/MONDO_0004608	http://purl.bioontology.org/ontology/ICD10CM/C10|http://identifiers.org/mesh/D009959|NCIT:C7398|UMLS:C0153390|UMLS:C0153389|UMLS:C0153382|DOID:8557|UMLS:C2349952|UMLS:C3165521	
UBERON:0001496	biolink:AnatomicalEntity	ascending aorta			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001496		
MONDO:0004625	biolink:Disease	phlebitis	Inflammation of a vein.	NCIT:C38003|SCTID:61599003|EFO:1001395|DOID:864|MESH:D010689	mondo.json	vein inflammation|inflammation of vein	http://purl.obolibrary.org/obo/MONDO_0004625	NCIT:C38003|DOID:864|http://identifiers.org/mesh/D010689|http://identifiers.org/snomedct/61599003	
CHEBI:24632	biolink:ChemicalSubstance	hydrocarbon	A compound consisting of carbon and hydrogen only.		mondo.json	hidrocarburos|Kohlenwasserstoffe|hydrocarbons|hydrocarbure|Kohlenwasserstoff|hidrocarburo|hydrocarbon	http://purl.obolibrary.org/obo/CHEBI_24632		
MONDO:0004624	biolink:Disease	uvula cancer	A malignant neoplasm involving the palatine uvula.	NCIT:C35177|ICD9:145.4|UMLS:C0153377|SCTID:363389001|DOID:8635	mondo.json	palatine uvula cancer|malignant uvular neoplasm|malignant neoplasm of palatine uvula|malignant uvula tumour|malignant palatine uvula neoplasm|malignant uvula tumor|malignant uvular tumour|malignant uvular tumor|malignant tumor of uvula|cancer of palatine uvula|malignant uvula neoplasm	http://purl.obolibrary.org/obo/MONDO_0004624	UMLS:C0153377|DOID:8635|http://identifiers.org/snomedct/363389001|NCIT:C35177	
MONDO:0004627	biolink:Disease	duodenitis	Acute or chronic inflammation of the duodenum. Causes include bacterial and viral infections and gastroesophageal reflux disease. Symptoms include vomiting and abdominal pain.	DOID:8643|MESH:D004382|SCTID:72007001|ICD9:535.6|NCIT:C94409|ICD10CM:K29.8|ICD9:535.60|UMLS:C0013298	mondo.json	duodenum inflammation|hemorrhagic duodenitis|duodenitis|inflammation of duodenum	http://purl.obolibrary.org/obo/MONDO_0004627	http://purl.bioontology.org/ontology/ICD10CM/K29.8|http://identifiers.org/mesh/D004382|DOID:8643|NCIT:C94409|UMLS:C0013298|http://identifiers.org/snomedct/72007001	
MONDO:0004626	biolink:Disease	obsolete Hodgkin's paragranuloma		NCIT:C26956|DOID:8642	mondo.json	Hodgkin paragranuloma	http://purl.obolibrary.org/obo/MONDO_0004626	DOID:8642|NCIT:C26956	
MONDO:0004621	biolink:Disease	upper lip cancer	A malignant neoplasm involving the upper lip.	ICD9:140.0|ICD9:140.3|DOID:8630	mondo.json	cancer of upper lip|upper lip cancer|malignant neoplasm of upper lip|malignant upper lip neoplasm	http://purl.obolibrary.org/obo/MONDO_0004621	DOID:8630	
MONDO:0004620	biolink:Disease	Hodgkin's lymphoma, lymphocytic depletion	A diffuse subtype of classical Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008)	ONCOTREE:LDCHL|Orphanet:98846|DOID:8628|NCIT:C9125|SCTID:118610003|ICD9:201.7	mondo.json	adult HDLD|adult LDHD|Hodgkin's disease, lymphocytic depletion|lymphocyte-depleted classical Hodgkin lymphoma|Hodgkin's lymphocytic depletion of unspecified site|adult lymphocyte-depleted classical Hodgkin lymphoma|adult lymphocyte depleted Hodgkin's lymphoma|adult lymphocyte depleted classical Hodgkin lymphoma|Adult lymphocyte-depleted Classic Hodgkin lymphoma|Hodgkin lymphoma, lymphocyte depletion|adult lymphocyte depleted Hodgkin lymphoma|adult lymphocyte depletion Hodgkin's disease|Hodgkin's disease, lymphocytic depletion NOS (morphologic abnormality)|Hodgkin's disease, lymphocytic depletion, unspecified site, extranodal and solid organ sites|classic Hodgkin lymphoma, lymphocyte-depleted type	http://purl.obolibrary.org/obo/MONDO_0004620	http://identifiers.org/snomedct/118610003|DOID:8628|NCIT:C9125|Orphanet:98846	ordo_histopathological_subtype
MONDO:0004623	biolink:Disease	obsolete prostate carcinoma in situ			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004623		
MONDO:0004622	biolink:Disease	chronic intestinal vascular insufficiency		SCTID:111354009|ICD9:557.1|UMLS:C0311262|DOID:8633	mondo.json	CMI - chronic mesenteric ischaemia|chronic mesenteric ischemia	http://purl.obolibrary.org/obo/MONDO_0004622	DOID:8633|http://identifiers.org/snomedct/111354009|UMLS:C0311262	
UBERON:0001480	biolink:AnatomicalEntity	proximal carpal bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001480		
UBERON:0001482	biolink:AnatomicalEntity	muscle of shoulder			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001482		
GO:0072509	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0072509		
GO:0072507	biolink:NamedThing	divalent inorganic cation homeostasis	Any process involved in the maintenance of an internal steady state of divalent cations within an organism or cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0072507		
UBERON:0001488	biolink:AnatomicalEntity	ankle joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001488		
GO:0072503	biolink:NamedThing	cellular divalent inorganic cation homeostasis	Any process involved in the maintenance of an internal steady state of divalent cations at the level of a cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0072503		
UBERON:0001487	biolink:AnatomicalEntity	pes joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001487		
UBERON:0001489	biolink:AnatomicalEntity	manus joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001489		
MONDO:0004618	biolink:Disease	diplegia of upper limb		DOID:862|UMLS:C0154701|SCTID:54099005|ICD9:344.2	mondo.json	diplegia, upper|diplegia of upper limbs	http://purl.obolibrary.org/obo/MONDO_0004618	http://identifiers.org/snomedct/54099005|UMLS:C0154701|DOID:862	
UBERON:0001484	biolink:AnatomicalEntity	articular capsule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001484		
MONDO:0004617	biolink:Disease	recurrent hypersomnia	Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)	SCTID:426451004|DOID:8619|ICD9:327.13|ICD10CM:G47.13|UMLS:C0751226	mondo.json	primary recurrent hypersomnia	http://purl.obolibrary.org/obo/MONDO_0004617	http://purl.bioontology.org/ontology/ICD10CM/G47.13|DOID:8619|http://identifiers.org/snomedct/426451004|UMLS:C0751226	
UBERON:0001483	biolink:AnatomicalEntity	skin of shoulder			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001483		
MONDO:0004619	biolink:Disease	measles	A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR).	GARD:0003434|ICD10CM:B05|DOID:8622|SCTID:14189004|UMLS:C0025007|ICD9:055|MESH:D008457|NCIT:C96406|EFO:1002025	mondo.json	Measles morbillivirus infectious disease|Measles morbillivirus caused disease or disorder|rubeola|Measles morbillivirus disease or disorder|morbilli|rubeola infection	http://purl.obolibrary.org/obo/MONDO_0004619	http://identifiers.org/snomedct/14189004|NCIT:C96406|DOID:8622|UMLS:C0025007|http://identifiers.org/mesh/D008457|http://purl.bioontology.org/ontology/ICD10CM/B05	gard_rare
UBERON:0001485	biolink:AnatomicalEntity	knee joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001485		
MONDO:0002017	biolink:Disease	olivopontocerebellar atrophy	A group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and inferior olives.	SCTID:67761004|GARD:0007250|MESH:D009849|ICD9:333.0|NCIT:C84947|UMLS:C0028968|DOID:14784	mondo.json	Dejerine-Thomas syndrome|OPCA|WADIA-swami syndrome|Thomas' syndrome	http://purl.obolibrary.org/obo/MONDO_0002017	UMLS:C0028968|http://identifiers.org/mesh/D009849|DOID:14784|http://identifiers.org/snomedct/67761004|NCIT:C84947	
MONDO:0002018	biolink:Disease	obsolete Leber congenital amaurosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002018		
MONDO:0004679	biolink:Disease	leukoplakia of vagina	Leukoplakia of the vagina.	DOID:8920|ICD10CM:N89.4|UMLS:C0156385|SCTID:111420009|ICD9:623.1|NCIT:C3663	mondo.json	vaginal leukoplakia|leukoplakia of the vagina	http://purl.obolibrary.org/obo/MONDO_0004679	UMLS:C0156385|http://identifiers.org/snomedct/111420009|NCIT:C3663|http://purl.bioontology.org/ontology/ICD10CM/N89.4|DOID:8920	
MONDO:0002019	biolink:Disease	obsolete hypohidrotic ectodermal dysplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002019		
SO:0000001	biolink:SequenceFeature	region	A sequence_feature with an extent greater than zero. A nucleotide region is composed of bases and a polypeptide region is composed of amino acids.		mondo.json	sequence	http://purl.obolibrary.org/obo/SO_0000001		
MONDO:0002013	biolink:Disease	lymphangioma	A benign lesion composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation.	MESH:D008202|ICDO:9170/0|DOID:1475|SCTID:400178008|GARD:0009789|SCTID:254836000|NCIT:C8965|ICD9:228.1|UMLS:CN201700|Orphanet:2415	mondo.json	LM|lymphangioma, benign|congenital lymphangioma|lymphangioma|benign lymphangioma (morphologic abnormality)|benign lymphangioma	http://purl.obolibrary.org/obo/MONDO_0002013	UMLS:CN201700|http://identifiers.org/mesh/D008202|NCIT:C8965|DOID:1475|http://identifiers.org/snomedct/400178008|http://identifiers.org/snomedct/254836000|Orphanet:2415	disease_grouping|ordo_group_of_disorders
MONDO:0004676	biolink:Disease	obsolete progressive myoclonus epilepsy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004676		
MONDO:0002014	biolink:Disease	autosomal recessive Ehlers-Danlos syndrome, vascular type	The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.	UMLS:C0268340|DOID:14759|SCTID:70610001	mondo.json	autosomal recessive type IV Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, recessive type 4|Ehlers-Danlos syndrome, vascular type, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0002014	DOID:14759|http://identifiers.org/snomedct/70610001|UMLS:C0268340	
MONDO:0004675	biolink:Disease	mitochondrial encephalomyopathy	A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)	MESH:D017237|SCTID:447292006|ICD9:277.87|UMLS:C0162666|DOID:890	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004675	DOID:890|UMLS:C0162666|http://identifiers.org/mesh/D017237|http://identifiers.org/snomedct/447292006	
MONDO:0004678	biolink:Disease	dermatophytosis	A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area.	ICD9:110.9|DOID:8913|ICD9:110|UMLS:C0011636|ICD10CM:B35|NCIT:C26745|SCTID:47382004|ICD9:110.8	mondo.json	ringworm|skin diseases, fungal|skin disease, fungal|dermatomycosis|fungal skin diseases|fungal skin disease	http://purl.obolibrary.org/obo/MONDO_0004678	http://identifiers.org/snomedct/47382004|http://purl.bioontology.org/ontology/ICD10CM/B35|UMLS:C0011636|NCIT:C26745|DOID:8913	
MONDO:0002015	biolink:Disease	obsolete brittle cornea syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002015		
MONDO:0002016	biolink:Disease	benign familial neonatal epilepsy	A condition marked by recurrent seizures that occur during the first 4-6 weeks of life despite an otherwise benign neonatal course. Autosomal dominant familial and sporadic forms have been identified. Seizures generally consist of brief episodes of tonic posturing and other movements, apnea, eye deviations, and blood pressure fluctuations. These tend to remit after the 6th week of life. The risk of developing epilepsy at an older age is moderately increased in the familial form of this disorder. (Neurologia 1996 Feb;11(2):51-5)	GARD:0002159|DOID:14777|SCTID:279953009|SCTID:230410004	mondo.json	familial neonatal seizures	http://purl.obolibrary.org/obo/MONDO_0002016	http://identifiers.org/snomedct/279953009|DOID:14777	
MONDO:0004677	biolink:Disease	tinea nigra	A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions.	DOID:8912|ICD10CM:B36.1|UMLS:C0152067|ICD9:111.1|SCTID:183342005	mondo.json	Tinea palmaris nigra|infection by Cladosporium werneckii|microsporosis nigra|keratomycosis nigricans	http://purl.obolibrary.org/obo/MONDO_0004677	UMLS:C0152067|http://purl.bioontology.org/ontology/ICD10CM/B36.1|http://identifiers.org/snomedct/183342005|DOID:8912	
MONDO:0004672	biolink:Disease	fasciolopsiasis	A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response.	ICD10CM:B66.5|NCIT:C128388|DOID:888|SCTID:54266002|UMLS:C0015656|ICD9:121.4	mondo.json	infectious disease by Fasciolopsis|infection by Fasciolopsis buski	http://purl.obolibrary.org/obo/MONDO_0004672	DOID:888|http://purl.bioontology.org/ontology/ICD10CM/B66.5|http://identifiers.org/snomedct/54266002|UMLS:C0015656|NCIT:C128388	
GO:1901402	biolink:NamedThing	negative regulation of tetrapyrrole metabolic process	Any process that stops, prevents or reduces the frequency, rate or extent of tetrapyrrole metabolic process.		mondo.json	inhibition of tetrapyrrole metabolism|down regulation of tetrapyrrole metabolic process|inhibition of tetrapyrrole metabolic process|negative regulation of tetrapyrrole metabolism|down-regulation of tetrapyrrole metabolic process|down-regulation of tetrapyrrole metabolism|down regulation of tetrapyrrole metabolism|downregulation of tetrapyrrole metabolism|downregulation of tetrapyrrole metabolic process	http://purl.obolibrary.org/obo/GO_1901402		
GO:1901403	biolink:NamedThing	positive regulation of tetrapyrrole metabolic process	Any process that activates or increases the frequency, rate or extent of tetrapyrrole metabolic process.		mondo.json	positive regulation of tetrapyrrole metabolism|upregulation of tetrapyrrole metabolism|upregulation of tetrapyrrole metabolic process|activation of tetrapyrrole metabolism|up regulation of tetrapyrrole metabolic process|up-regulation of tetrapyrrole metabolism|up-regulation of tetrapyrrole metabolic process|activation of tetrapyrrole metabolic process|up regulation of tetrapyrrole metabolism	http://purl.obolibrary.org/obo/GO_1901403		
MONDO:0002010	biolink:Disease	FG syndrome	FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential.	Orphanet:323|OMIMPS:305400|DOID:14711|SCTID:49984004|ICD9:759.89|GARD:0002317	mondo.json	FGS|Opitz-Kaveggia syndrome|Keller syndrome|FGS1|intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum	http://purl.obolibrary.org/obo/MONDO_0002010	DOID:14711|http://identifiers.org/snomedct/49984004|https://omim.org/phenotypicSeries/PS305400	gard_rare
MONDO:0004671	biolink:Disease	penis carcinoma in situ	A in situ carcinoma that involves the penis.	UMLS:C0154089|ICDO:8080/2|NCIT:C27790|DOID:8872|ICD9:233.5|SCTID:398831006|SCTID:398768004	mondo.json	Bowen disease of the penis|stage 0 penile carcinoma in situ|carcinoma in situ of the penis|penile carcinoma in situ|carcinoma in situ of penis|stage 0 penis carcinoma|Bowen's disease of penis|grade III squamous intraepithelial lesion of penis|penis in situ carcinoma|Queyrat's erythroplasia|penile carcinoma in situ aJCC v7|erythroplasia of Queyrat|penile intraepithelial neoplasia grade III|Bowen's disease of the penis|grade III penile intraepithelial neoplasia|Queyrat erythroplasia|grade III squamous intraepithelial lesion of the penis	http://purl.obolibrary.org/obo/MONDO_0004671	http://identifiers.org/snomedct/398831006|UMLS:C0154089|NCIT:C27790|DOID:8872	
MONDO:0004674	biolink:Disease	chorioretinitis	Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision.	NCIT:C110923|ICD9:363.20|HP:0012424|DOID:8886|MESH:D002825|GARD:0006060|SCTID:46627006|UMLS:C0008513	mondo.json	retinochoroiditis|chorioretinitis|chorioretinitis (disease)	http://purl.obolibrary.org/obo/MONDO_0004674	UMLS:C0008513|http://identifiers.org/snomedct/46627006|DOID:8886|NCIT:C110923|http://identifiers.org/mesh/D002825	
MONDO:0002011	biolink:Disease	obsolete hereditary angioedema			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002011		
MONDO:0002012	biolink:Disease	methylmalonic acidemia	A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.	ICD9:270.7|DOID:14749|UMLS:C0268583|MESH:C537358|SCTID:42393006|NCIT:C98986|GARD:0007033|UMLS:C1855119|ICD10CM:E71.120	mondo.json	METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl A|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type|methylmalonic aciduria mut type|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type|METHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiency|methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|methylmalonic aciduria type cblB|methylmalonic aciduria|methylmalonic aciduria type cblA|methylmalonic acidemia, cblA type|methylmalonic acidemia, cblB type|methylmalonic aciduria cblB type|methylmalonic aciduria, mut type|METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl B	http://purl.obolibrary.org/obo/MONDO_0002012	UMLS:C1855119|DOID:14749|http://purl.bioontology.org/ontology/ICD10CM/E71.120|NCIT:C98986|UMLS:C0268583|http://identifiers.org/snomedct/42393006|http://identifiers.org/mesh/C537358	
MONDO:0004673	biolink:Disease	lower lip cancer	A malignant neoplasm involving the lower lip.	DOID:8883|ICD9:140.1|SCTID:363373004|UMLS:C0432520	mondo.json	lower lip cancer|malignant lower lip neoplasm|malignant neoplasm of lower lip|cancer of lower lip	http://purl.obolibrary.org/obo/MONDO_0004673	http://identifiers.org/snomedct/363373004|UMLS:C0432520|DOID:8883	
GO:1901401	biolink:NamedThing	regulation of tetrapyrrole metabolic process	Any process that modulates the frequency, rate or extent of tetrapyrrole metabolic process.		mondo.json	regulation of tetrapyrrole metabolism	http://purl.obolibrary.org/obo/GO_1901401		
MONDO:0004670	biolink:Disease	lupus erythematosus	An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus.	ICD10CM:L93|SCTID:200936003|UMLS:C0409974|ICD9:695.4|DOID:8857|NCIT:C27153	mondo.json	lupus|lupus erythematosus	http://purl.obolibrary.org/obo/MONDO_0004670	NCIT:C27153|http://purl.bioontology.org/ontology/ICD10CM/L93|http://identifiers.org/snomedct/200936003|UMLS:C0409974|DOID:8857	
MONDO:0016669	biolink:Disease	sickle cell-hemoglobin c disease syndrome		Orphanet:251365|UMLS:C0019034|GARD:0006584|MedDRA:10057072	mondo.json	HbSC disease|sickle cell - hemoglobin C disease	http://purl.obolibrary.org/obo/MONDO_0016669	UMLS:C0019034|Orphanet:251365	ordo_disease
MONDO:0014006	biolink:Disease	Schuurs-Hoeijmakers syndrome	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.	DOID:0070047|Orphanet:329224|NCIT:C150555|UMLS:C3554343|GARD:0013043|OMIM:615009	mondo.json	autosomal dominant intellectual disability-17|autosomal dominant intellectual disability 17|Schuurs-Hoeijmakers syndrome|PACS1-related syndrome|autosomal dominant mental retardation 17|intellectual disability, autosomal dominant type 17|mental retardation, autosomal dominant 17|MRD17|SHMS|mental retardation, autosomal dominant type 17|intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome|intellectual disability, autosomal dominant 17	http://purl.obolibrary.org/obo/MONDO_0014006	Orphanet:329224|NCIT:C150555|https://omim.org/entry/615009|UMLS:C3554343|DOID:0070047	ordo_malformation_syndrome
MONDO:0014005	biolink:Disease	immunoglobulin-mediated membranoproliferative glomerulonephritis	Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation.	NCIT:C123055|OMIM:615008|Orphanet:329903	mondo.json	Mesangiocapillary glomerulonephritis type 1|NPHS7|Ig-mediated membranoproliferative glomerulonephritis|immune Complex mediated membranoproliferative glomerulonephritis|membranoproliferative glomerulonephritis type I|Immunoglobulin-mediated MPGN|nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis|Ig-mediated MPGN|immunoglobulin-mediated membranoproliferative glomerulonephritis|nephrotic syndrome, type 7|hemolytic uremic syndrome, atypical, susceptibility to, 7|Ahus, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0014005	Orphanet:329903|https://omim.org/entry/615008|NCIT:C123055	predisposition|ordo_clinical_subtype
MONDO:0014004	biolink:Disease	basal ganglia calcification, idiopathic, 4		OMIM:615007|UMLS:C3554321	mondo.json	basal ganglia calcification, idiopathic, type 4|basal ganglia calcification, idiopathic, 4|IBGC4	http://purl.obolibrary.org/obo/MONDO_0014004	https://omim.org/entry/615007|UMLS:C3554321	
MONDO:0014003	biolink:Disease	developmental and epileptic encephalopathy, 15		OMIM:615006|DOID:0080414|UMLS:C3554316	mondo.json	developmental and epileptic encephalopathy 15|epileptic encephalopathy, early infantile, 15|epileptic encephalopathy, early infantile, type 15|DEE15|EIEE15	http://purl.obolibrary.org/obo/MONDO_0014003	DOID:0080414|https://omim.org/entry/615006|UMLS:C3554316	
MONDO:0016665	biolink:Disease	obsolete unclassified vasculitis		Orphanet:251328	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016665	Orphanet:251328	ordo_disease
MONDO:0016666	biolink:Disease	unexplained long-lasting fever/inflammatory syndrome		Orphanet:251332|UMLS:CN201905	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016666	UMLS:CN201905|Orphanet:251332	ordo_disease
MONDO:0014009	biolink:Disease	autosomal recessive congenital ichthyosis 7	An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1.	DOID:0060716|UMLS:C3554348|OMIM:615022	mondo.json	ichthyosis, congenital, autosomal recessive 7|autosomal recessive congenital ichthyosis type 7|ARCI7	http://purl.obolibrary.org/obo/MONDO_0014009	UMLS:C3554348|https://omim.org/entry/615022|DOID:0060716	
GO:0060556	biolink:NamedThing	regulation of vitamin D biosynthetic process	Any process that modulates the rate frequency or extent of a vitamin D biosynthetic process. Vitamin D biosynthesis is the chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3).		mondo.json		http://purl.obolibrary.org/obo/GO_0060556		
MONDO:0014008	biolink:Disease	phosphohydroxylysinuria		UMLS:C3554344|OMIM:615011	mondo.json	PHLU|phosphohydroxylysinuria|PHOSPHOHYDROXYLYSINURIA|Phosphohydroxylysinuria	http://purl.obolibrary.org/obo/MONDO_0014008	https://omim.org/entry/615011|UMLS:C3554344	
GO:0060557	biolink:NamedThing	positive regulation of vitamin D biosynthetic process	Any process that increases the rate, frequency or extent of a vitamin D biosynthetic process. Vitamin D biosynthesis is the chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3).		mondo.json		http://purl.obolibrary.org/obo/GO_0060557		
MONDO:0016667	biolink:Disease	sickle cell disease associated with an other hemoglobin anomaly		UMLS:CN201907|GARD:0012459|Orphanet:251355	mondo.json	Double heterozygotes sickling disorder	http://purl.obolibrary.org/obo/MONDO_0016667	UMLS:CN201907|Orphanet:251355	ordo_group_of_disorders|gard_rare|obsoletion_candidate|disease_grouping
MONDO:0016668	biolink:Disease	sickle cell-beta-thalassemia disease syndrome	Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease. Affected people havea differentchange (mutation) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leadsto the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person.	GARD:0010333|NCIT:C95539|SCTID:127041004|Orphanet:251359|MedDRA:10040655|MedDRA:10055579	mondo.json	sickle cell - beta-thalassemia disease|sickle cell-Beta thalassemia|Hb S beta-thalassemia|HbS-beta-thalassemia syndrome|Hb S-Beta thalassemia|Hemoglobin sickle-beta thalassemia|sickle cell-beta-thalassemia disease syndrome|S-Beta thalassemia|HbS - beta-thalassemia|sickle beta thalassemia|sickle cell-Beta-thalassemia	http://purl.obolibrary.org/obo/MONDO_0016668	http://identifiers.org/snomedct/127041004|Orphanet:251359|NCIT:C95539	ordo_disease|gard_rare
MONDO:0014007	biolink:Disease	Aicardi-Goutieres syndrome 6	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene.	UMLS:C3539013|OMIM:615010	mondo.json	ADAR Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome caused by mutation in ADAR|Adar Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome caused by mutation in Adar|AGS6|Aicardi-Goutieres syndrome type 6|Aicardi-Goutieres syndrome 6	http://purl.obolibrary.org/obo/MONDO_0014007	UMLS:C3539013|https://omim.org/entry/615010	
MONDO:0016661	biolink:Disease	infantile onset panniculitis with uveitis and systemic granulomatosis		Orphanet:251304	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016661	Orphanet:251304	ordo_disease
MONDO:0016662	biolink:Disease	idiopathic recurrent pericarditis	A rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication.	ICD10CM:I09.2|Orphanet:251307|SCTID:766704005	mondo.json	idiopathic relapsing pericarditis	http://purl.obolibrary.org/obo/MONDO_0016662	Orphanet:251307|http://identifiers.org/snomedct/766704005	ordo_disease
MONDO:0016663	biolink:Disease	overlapping connective tissue disease		MedDRA:10027754|UMLS:CN201903|Orphanet:251312	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016663	Orphanet:251312|UMLS:CN201903	ordo_group_of_disorders|disease_grouping
MONDO:0016664	biolink:Disease	drug-induced vasculitis	A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations.	NCIT:C112204|UMLS:C3812646|Orphanet:251325	mondo.json	drug induced vasculitis|drug induced cutaneous vasculitis	http://purl.obolibrary.org/obo/MONDO_0016664	Orphanet:251325|NCIT:C112204|UMLS:C3812646	ordo_disease
MONDO:0014002	biolink:Disease	autosomal dominant nocturnal frontal lobe epilepsy 5	Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene.	DOID:0060686|UMLS:C3554306|OMIM:615005	mondo.json	epilepsy, nocturnal frontal lobe, type 5|autosomal dominant nocturnal frontal lobe epilepsy type 5|ENFL5|epilepsy, nocturnal frontal lobe, 5|nocturnal frontal lobe epilepsy 5|autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in KCNT1|KCNT1 autosomal dominant nocturnal frontal lobe epilepsy|epilepsy nocturnal frontal lobe, 5	http://purl.obolibrary.org/obo/MONDO_0014002	https://omim.org/entry/615005|UMLS:C3554306|DOID:0060686	
MONDO:0014001	biolink:Disease	Usher syndrome type 1K	An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1.	ICD10CM:H35.5|OMIM:614990|UMLS:C3539124|DOID:0110837	mondo.json	Usher syndrome type IK|USH1K|USHER syndrome, type IK	http://purl.obolibrary.org/obo/MONDO_0014001	DOID:0110837|https://omim.org/entry/614990|UMLS:C3539124	
MONDO:0014000	biolink:Disease	congenital heart defects, multiple types, 2	Any congenital heart malformation in which the cause of the disease is a mutation in the TAB2 gene.	OMIM:614980|UMLS:C3554279	mondo.json	CHTD2|TAB2 congenital heart malformation|congenital heart malformation caused by mutation in TAB2|congenital heart defects, nonsyndromic, 2|congenital heart defects, multiple types, 2	http://purl.obolibrary.org/obo/MONDO_0014000	UMLS:C3554279|https://omim.org/entry/614980	
MONDO:0016660	biolink:Disease	autosomal recessive primary microcephaly	Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.	DOID:0070296|SCTID:715981004|UMLS:C3711387|MESH:C579935|OMIMPS:251200|GARD:0012117|Orphanet:2512	mondo.json	microcephaly vera|microcephaly, primary, autosomal recessive|microcephalia vera|microcephaly, primary autosomal recessive|true microcephaly|MCPH	http://purl.obolibrary.org/obo/MONDO_0016660	http://identifiers.org/snomedct/715981004|https://omim.org/phenotypicSeries/PS251200|DOID:0070296|Orphanet:2512|http://identifiers.org/mesh/C579935|UMLS:C3711387	gard_rare|ordo_etiological_subtype|clingen
HGNC:8059	biolink:NamedThing	NUMA1			mondo.json		http://identifiers.org/hgnc/8059		
MONDO:0002028	biolink:Disease	personality disorder	A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work.	DOID:1510|SCTID:33449004|ICD9:301.8|ICD9:301.89|NCIT:C34922|ICD9:301.9|HP:0012075	mondo.json	character disorder|personality disorder|personality disorder (disease)	http://purl.obolibrary.org/obo/MONDO_0002028	NCIT:C34922|DOID:1510|http://identifiers.org/snomedct/33449004	
MONDO:0002029	biolink:Disease	chronic gonorrhea of cervix	Chronic form of gonococcal cervicitis.	ICD9:098.35|SCTID:76802005|UMLS:C0153206|DOID:1512	mondo.json	gonococcal cervicitis, chronic|chronic gonococcal cervicitis	http://purl.obolibrary.org/obo/MONDO_0002029	http://identifiers.org/snomedct/76802005|DOID:1512|UMLS:C0153206	
MONDO:0004687	biolink:Disease	severe nonproliferative diabetic retinopathy		UMLS:C0730278|ICD9:362.06|SCTID:312905005|DOID:8946	mondo.json	high risk non proliferative diabetic retinopathy|severe nonproliferative diabetic retinopathy|severe npdr|severe NPDR|severe nonproliferative retinopathy	http://purl.obolibrary.org/obo/MONDO_0004687	UMLS:C0730278|http://identifiers.org/snomedct/312905005|DOID:8946	
MONDO:0002024	biolink:Disease	obsolete cholera			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002024		
MONDO:0002025	biolink:Disease	psychiatric disorder	A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia.	MESH:D001523|NCIT:C2893|MFOMD:0000004|SCTID:74732009|DOID:150	mondo.json	Psychiatric disease|disease of mental health|mental dysfunction|Psychiatric disorder|mental illness|mental disorder	http://purl.obolibrary.org/obo/MONDO_0002025	DOID:150|http://identifiers.org/mesh/D001523|NCIT:C2893	
MONDO:0004686	biolink:Disease	lattice corneal dystrophy		DOID:8943|HP:0001149|SCTID:1192004|UMLS:C0155127|ICD9:357.4|ICD9:277.39	mondo.json	lattice corneal dystrophy|lattice corneal dystrophy (disease)|familial amyloid neuropathy, Finnish type	http://purl.obolibrary.org/obo/MONDO_0004686	UMLS:C0155127|DOID:8943|http://identifiers.org/snomedct/1192004	
MONDO:0004689	biolink:Disease	inborn metal metabolism disorder	An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.	MESH:D008664|DOID:896|UMLS:C0025534	mondo.json	metal metabolism, inborn error|metal metabolism disorder	http://purl.obolibrary.org/obo/MONDO_0004689	UMLS:C0025534|DOID:896|http://identifiers.org/mesh/D008664	
MONDO:0002026	biolink:Disease	candidiasis	Infection with the organism Candida.	MESH:D002177|ICD9:112.89|UMLS:C0006840|ICD9:112.9|DOID:1508|ICD9:112|ICD10CM:B37|SCTID:78048006|NCIT:C26711	mondo.json	infections, Candida <Debaryomycetaceae>|Candida infection|Candida <Debaryomycetaceae> infection|systemic candidiasis|Candidosis|thrush|disseminated candidiasis	http://purl.obolibrary.org/obo/MONDO_0002026	http://purl.bioontology.org/ontology/ICD10CM/B37|UMLS:C0006840|DOID:1508|NCIT:C26711|http://identifiers.org/mesh/D002177|http://identifiers.org/snomedct/78048006	
HGNC:8063	biolink:NamedThing	NUP155			mondo.json		http://identifiers.org/hgnc/8063		
MONDO:0002027	biolink:Disease	avoidant personality disorder	A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection.	NCIT:C92636|ICD9:301.82|SCTID:231528008|ICD10CM:F60.6|DOID:1509	mondo.json	anxious personality disorder	http://purl.obolibrary.org/obo/MONDO_0002027	NCIT:C92636|http://identifiers.org/snomedct/231528008|http://purl.bioontology.org/ontology/ICD10CM/F60.6|DOID:1509	
MONDO:0004688	biolink:Disease	obsolete sideroblastic anemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004688		
MONDO:0004683	biolink:Disease	obsolete Evans' syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004683		
MONDO:0002020	biolink:Disease	obsolete Blount disease			mondo.json	obsolete Blount's disease	http://purl.obolibrary.org/obo/MONDO_0002020		
MONDO:0004682	biolink:Disease	retromolar area cancer	A malignant form of neoplasm of retromolar area.	DOID:8930|ICD9:145.6|ICD10CM:C06.2|SCTID:363391009	mondo.json	malignant tumor of retromolar area|neoplasm of retromolar area, malignant|malignant neoplasm of retromolar area	http://purl.obolibrary.org/obo/MONDO_0004682	http://purl.bioontology.org/ontology/ICD10CM/C06.2|DOID:8930|http://identifiers.org/snomedct/363391009	
MONDO:0002021	biolink:Disease	gingival disorder	A disease involving the gingiva.	DOID:1483|SCTID:18718003|MESH:D005882|UMLS:C0017563	mondo.json	disorder of gingiva|gingiva disease|disease or disorder of gingiva|disease of gingiva|gingiva disease or disorder	http://purl.obolibrary.org/obo/MONDO_0002021	DOID:1483|UMLS:C0017563|http://identifiers.org/mesh/D005882|http://identifiers.org/snomedct/18718003	
MONDO:0004685	biolink:Disease	Waldeyer's ring cancer	A malignant neoplasm involving the tonsillar ring.	ICD9:149.1|UMLS:C0153406|ICD10CM:C14.2|SCTID:187716008|DOID:8937	mondo.json	tonsillar ring cancer|Waldeyer ring cancer|malignant neoplasm of Waldeyer's ring|malignant tonsillar ring neoplasm|cancer of tonsillar ring|malignant tumor of Waldeyer's ring|malignant neoplasm of tonsillar ring	http://purl.obolibrary.org/obo/MONDO_0004685	http://purl.bioontology.org/ontology/ICD10CM/C14.2|http://identifiers.org/snomedct/187716008|UMLS:C0153406|DOID:8937	
MONDO:0002022	biolink:Disease	disorder of orbital region	A disease that involves the orbital region.	DOID:1492|ICD9:362.10|ICD10CM:H00-H59|SCTID:371409005	mondo.json	disorder of eye region|orbital region disease|ophthalmological disorder|orbital region disease or disorder|disorder of orbital region|eye and adnexa disease|disease of orbital region|disease or disorder of orbital region	http://purl.obolibrary.org/obo/MONDO_0002022	http://purl.bioontology.org/ontology/ICD10CM/H00-H59|http://identifiers.org/snomedct/371409005	
MONDO:0002023	biolink:Disease	obsolete cystic echinococcosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002023		
MONDO:0004684	biolink:Disease	plantar fibromatosis	A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern.	NCIT:C4680|EFO:1000481|MESH:C537000|MedDRA:10035154|GARD:0006873|Orphanet:199251|ICD9:728.71|SCTID:13370002|DOID:8936|SCTID:202882003	mondo.json	Dupuytren's contracture of foot|plantar part of pes superficial Fibromatosis|plantar part of pes superficial fibromatosis|Ledderhose's disease|plantar fibromatosis|plantar fascial fibromatosis|superficial fibromatosis of plantar part of pes|Lederhose disease	http://purl.obolibrary.org/obo/MONDO_0004684	Orphanet:199251|NCIT:C4680|DOID:8936|http://identifiers.org/snomedct/13370002|http://identifiers.org/mesh/C537000	ordo_disease|gard_rare
NCBITaxon:1759442	biolink:OrganismalEntity	Trichosporonaceae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1759442		
MONDO:0004681	biolink:Disease	learning disability	A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect.	UMLS:CN229495|ICD9:315.2|SCTID:1855002|DOID:8927|MESH:D007859|NCIT:C89334	mondo.json	learning disorder|Academic skill disorder	http://purl.obolibrary.org/obo/MONDO_0004681	http://identifiers.org/mesh/D007859|UMLS:CN229495|DOID:8927|NCIT:C89334|http://identifiers.org/snomedct/1855002	
MONDO:0004680	biolink:Disease	primary thrombocytopenia		SCTID:267534000|ICD9:287.39|ICD9:287.30|DOID:8925|UMLS:C0701157|ICD9:287.3	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004680	http://identifiers.org/snomedct/267534000|UMLS:C0701157|DOID:8925	
MONDO:0016658	biolink:Disease	8p23.1 microdeletion syndrome	8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.	GARD:0003769|SCTID:716381003|DECIPHER:39|Orphanet:251071|UMLS:CN201888|MESH:C537827	mondo.json	Del(8)(p23.1)|deletion 8p23.1|chromosome 8p23.1 deletion|8p23.1 deletion|monosomy 8p23.1	http://purl.obolibrary.org/obo/MONDO_0016658	http://identifiers.org/snomedct/716381003|UMLS:CN201888|http://identifiers.org/mesh/C537827|Orphanet:251071	ordo_malformation_syndrome
MONDO:0016659	biolink:Disease	8p23.1 duplication syndrome	8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).	GARD:0010304|Orphanet:251076|SCTID:765140006|UMLS:CN201889|DECIPHER:86|DECIPHER:85	mondo.json	8q21.11 Microdeletion Syndrome|dup(8)(p23.1p23.1)|trisomy 8p23.1	http://purl.obolibrary.org/obo/MONDO_0016659	UMLS:CN201889|Orphanet:251076|http://identifiers.org/snomedct/765140006	ordo_malformation_syndrome|gard_rare
MONDO:0016654	biolink:Disease	ring chromosome 5	Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).	GARD:0010841|Orphanet:251043|SCTID:765487008|UMLS:C4050064|NCIT:C121984	mondo.json	rose cluster 5|R5|Ring chromosome 5 syndrome|Ring 5|Ring chromosome type 5|chromosome 5 ring	http://purl.obolibrary.org/obo/MONDO_0016654	NCIT:C121984|Orphanet:251043|UMLS:C4050064|http://identifiers.org/snomedct/765487008	gard_rare|ordo_malformation_syndrome
MONDO:0016655	biolink:Disease	6p22 microdeletion syndrome	6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.	Orphanet:251046|UMLS:CN201884|SCTID:719662000|UMLS:C4304528	mondo.json	Del(6)(p22)|monosomy 6p22	http://purl.obolibrary.org/obo/MONDO_0016655	UMLS:CN201884|UMLS:C4304528|Orphanet:251046|http://identifiers.org/snomedct/719662000	ordo_malformation_syndrome
MONDO:0016656	biolink:Disease	7q31 microdeletion syndrome		Orphanet:251061|UMLS:CN201886	mondo.json	monosomy 7q31|Del(7)(q31)	http://purl.obolibrary.org/obo/MONDO_0016656	UMLS:CN201886|Orphanet:251061	ordo_malformation_syndrome
MONDO:0016657	biolink:Disease	8p11.2 deletion syndrome	8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.	Orphanet:251066|SCTID:719646006|UMLS:C4304505|UMLS:CN201887	mondo.json	monosomy 8p11.2|Del(8)(p11.2)	http://purl.obolibrary.org/obo/MONDO_0016657	UMLS:CN201887|UMLS:C4304505|Orphanet:251066|http://identifiers.org/snomedct/719646006	ordo_malformation_syndrome
GO:0072527	biolink:NamedThing	pyrimidine-containing compound metabolic process	The chemical reactions and pathways involving a pyrimidine-containing compound, i.e. any compound that contains pyrimidine or a formal derivative thereof.		mondo.json	pyrimidine-containing compound metabolism|pyrimidine and derivative metabolic process	http://purl.obolibrary.org/obo/GO_0072527		
MONDO:0016650	biolink:Disease	paternal uniparental disomy of chromosome 1	Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.	SCTID:766719006|Orphanet:251004	mondo.json	paternal uniparental disomy of chromosome type 1|UPD(1)pat	http://purl.obolibrary.org/obo/MONDO_0016650	Orphanet:251004|http://identifiers.org/snomedct/766719006	ordo_malformation_syndrome
GO:0060548	biolink:NamedThing	negative regulation of cell death	Any process that decreases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death.		mondo.json		http://purl.obolibrary.org/obo/GO_0060548		
GO:0072525	biolink:NamedThing	pyridine-containing compound biosynthetic process	The chemical reactions and pathways resulting in the formation of a pyridine-containing compound, i.e. any compound that contains pyridine or a formal derivative thereof.		mondo.json	pyridine-containing compound synthesis|pyridine-containing compound biosynthesis|pyridine-containing compound formation|pyridine and derivative biosynthetic process|pyridine-containing compound anabolism	http://purl.obolibrary.org/obo/GO_0072525		
HGNC:8064	biolink:NamedThing	NUP214			mondo.json		http://identifiers.org/hgnc/8064		
MONDO:0016651	biolink:Disease	maternal uniparental disomy of chromosome 1	Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.	Orphanet:251009	mondo.json	UPD(1)mat|maternal uniparental disomy of chromosome type 1	http://purl.obolibrary.org/obo/MONDO_0016651	Orphanet:251009	ordo_malformation_syndrome
MONDO:0016652	biolink:Disease	2q31.1 microdeletion syndrome	2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.	UMLS:C4274647|SCTID:716387004|UMLS:CN201880|Orphanet:251014	mondo.json	monosomy 2q31.1|Del(2)(q31.1)	http://purl.obolibrary.org/obo/MONDO_0016652	UMLS:CN201880|http://identifiers.org/snomedct/716387004|Orphanet:251014|UMLS:C4274647	ordo_malformation_syndrome
GO:0072524	biolink:NamedThing	pyridine-containing compound metabolic process	The chemical reactions and pathways involving a pyridine-containing compound, i.e. any compound that contains pyridine or a formal derivative thereof.		mondo.json	pyridine-containing compound metabolism|pyridine and derivative metabolic process	http://purl.obolibrary.org/obo/GO_0072524		
HGNC:8067	biolink:NamedThing	NUP88			mondo.json		http://identifiers.org/hgnc/8067		
MONDO:0016653	biolink:Disease	2q33.1 microdeletion syndrome	2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features inlcude high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated.	UMLS:CN201882|SCTID:763062006|Orphanet:251028|DECIPHER:51	mondo.json	Del(2)(q33.1)|monosomy 2q33.1	http://purl.obolibrary.org/obo/MONDO_0016653	UMLS:CN201882|http://identifiers.org/snomedct/763062006|Orphanet:251028	ordo_malformation_syndrome
HGNC:8066	biolink:NamedThing	NUP62			mondo.json		http://identifiers.org/hgnc/8066		
GO:0072522	biolink:NamedThing	purine-containing compound biosynthetic process	The chemical reactions and pathways resulting in the formation of a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof.		mondo.json	purine and derivative biosynthetic process|purine-containing compound anabolism|purine-containing compound biosynthesis|purine-containing compound synthesis|purine-containing compound formation	http://purl.obolibrary.org/obo/GO_0072522		
GO:0072521	biolink:NamedThing	purine-containing compound metabolic process	The chemical reactions and pathways involving a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof.		mondo.json	purine-containing compound metabolism|purine and derivative metabolic process	http://purl.obolibrary.org/obo/GO_0072521		
MONDO:0004658	biolink:Disease	breast carcinoma in situ	A in situ carcinoma that involves the breast.	SCTID:189336000|DOID:8791|UMLS:C0154084|NCIT:C3641|MESH:D000071960|ICD9:233.0	mondo.json	carcinoma in situ of breast|non-invasive carcinoma of breast|breast in situ carcinoma|non-invasive carcinoma of the breast|stage 0 breast cancer aJCC v7|stage 0 breast cancer aJCC v6|non-invasive breast carcinoma|carcinoma in situ of the breast|non-infiltrating carcinoma of breast|breast cancer in situ|in situ breast cancer|stage 0 carcinoma of breast|stage 0 breast cancer aJCC v6 and v7|stage 0 carcinoma of the breast|stage 0 breast cancer|breast cancer stage 0|non-infiltrating carcinoma of the breast|stage 0 breast carcinoma in situ|stage 0 breast carcinoma|non-infiltrating breast carcinoma|breast carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0004658	DOID:8791|NCIT:C3641|http://identifiers.org/mesh/D000071960|UMLS:C0154084|http://identifiers.org/snomedct/189336000	
MONDO:0004657	biolink:Disease	disseminated chorioretinitis		ICD9:363.10|SCTID:78769001|UMLS:C0154879|DOID:8787|ICD9:363.1	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004657	DOID:8787|http://identifiers.org/snomedct/78769001|UMLS:C0154879	
MONDO:0004659	biolink:Disease	eye carcinoma in situ	A carcinoma in situ involving a eye.	DOID:8792|SCTID:92590009|UMLS:C0154094|ICD9:234.0	mondo.json	carcinoma in situ of eye|eye in situ carcinoma|stage 0 eyeball of camera-type eye carcinoma|carcinoma in situ of eyeball of camera-type eye|eyeball of camera-type eye carcinoma in situ|stage 0 eye carcinoma	http://purl.obolibrary.org/obo/MONDO_0004659	DOID:8792|UMLS:C0154094|http://identifiers.org/snomedct/92590009	
MONDO:0004654	biolink:Disease	obsolete pyomyositis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004654		
MONDO:0004653	biolink:Disease	atypical chronic myeloid leukemia, BCR-ABL1 negative	A myelodysplastic/myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (WHO, 2001)	NCIT:C3519|MedDRA:10054651|DOID:8747|DOID:0060597|SCTID:277589003|Orphanet:98824|ICDO:9876/3	mondo.json	subacute myeloid leukemia|atypical chronic myeloid leukemia BCR-ABL1 negative|atypical chronic myeloid leukemia|subacute myelogenous leukemia|aCML|atypical chronic myeloid leukemia, BCR-ABL1 Negative|subacute granulocytic leukemia|atypical CML	http://purl.obolibrary.org/obo/MONDO_0004653	Orphanet:98824|DOID:0060597|http://identifiers.org/snomedct/277589003|DOID:8747|NCIT:C3519	ordo_disease
MONDO:0004656	biolink:Disease	rubella	A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body.	EFO:1002026|SCTID:36653000|GARD:0004742|NCIT:C85051|ICD9:056|UMLS:C0035920|MESH:D012409|ICD10CM:B06|DOID:8781	mondo.json	three day measles|Rubella virus disease or disorder|Rubella virus infectious disease|Rubella virus caused disease or disorder|german measles|Rubella infection|three-Day Measles	http://purl.obolibrary.org/obo/MONDO_0004656	http://identifiers.org/snomedct/36653000|http://identifiers.org/mesh/D012409|http://purl.bioontology.org/ontology/ICD10CM/B06|NCIT:C85051|UMLS:C0035920|DOID:8781	gard_rare
MONDO:0004655	biolink:Disease	obsolete acute megakaryoblastic leukemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004655		
MONDO:0004650	biolink:Disease	malignant carotid body paraganglioma	A carotid body paraganglioma that metastasizes to other anatomic sites.	ICD9:194.5|DOID:8731|ICD10CM:C75.4|UMLS:C0153656|SCTID:447883002|NCIT:C3574	mondo.json	chemodectoma, malignant|carotid body cancer|malignant carotid body neoplasm|malignant tumor of carotid body|malignant tumor of the carotid body|carotid body paraganglioma, malignant|malignant carotid body paraganglioma|malignant neoplasm of carotid body|malignant neoplasm of the carotid body|cancer of carotid body|malignant carotid body tumor (morphologic abnormality)|malignant carotid body tumor	http://purl.obolibrary.org/obo/MONDO_0004650	http://purl.bioontology.org/ontology/ICD10CM/C75.4|DOID:8731|UMLS:C0153656|NCIT:C3574|http://identifiers.org/snomedct/447883002	
CHR:9606-chr7q1	biolink:NamedThing	7q1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr7q1		
MONDO:0004652	biolink:Disease	bacterial pneumonia	Acute infection of the lung parenchyma caused by bacteria (e.g., Streptococcus pneumoniae, Haemophilus influenzae, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Legionella pneumophila). Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain.	ICD9:482.89|UMLS:C0004626|MESH:D018410|DOID:874|EFO:1001272|SCTID:53084003|NCIT:C26704|ICD9:482.9	mondo.json	gram-negative pneumonia|Bacteria caused pneumonia|Bacteria pneumonia|pneumonia due to other gram-negative bacteria	http://purl.obolibrary.org/obo/MONDO_0004652	DOID:874|http://identifiers.org/mesh/D018410|NCIT:C26704|http://identifiers.org/snomedct/53084003|UMLS:C0004626	
MONDO:0004651	biolink:Disease	smallpox	A condition that is caused by infection with Variola, and that is characterized by small, raised bumps.	SCTID:67924001|DOID:8736|ICD9:050.9|MESH:D012899|ICD10CM:B03|ICD9:050|NCIT:C35027|GARD:0007444|UMLS:C0037354	mondo.json	variola virus VAR infection|Variola|ordinary smallpox|variola virus infection|smallpox virus infection|Variola virus disease or disorder|Variola virus infectious disease|Variola virus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0004651	http://purl.bioontology.org/ontology/ICD10CM/B03|UMLS:C0037354|http://identifiers.org/mesh/D012899|DOID:8736|NCIT:C35027|http://identifiers.org/snomedct/67924001	gard_rare
CHR:9606-chr7q3	biolink:NamedThing	7q3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr7q3		
GO:0047598	biolink:NamedThing	7-dehydrocholesterol reductase activity	Catalysis of the reaction: cholesterol + NADP+ = cholesta-5,7-dien-3-beta-ol + NADPH + H+.		mondo.json	sterol Delta(7)-reductase activity|cholesterol:NADP+ delta7-oxidoreductase activity|sterol delta7-reductase activity|7-DHC reductase activity	http://purl.obolibrary.org/obo/GO_0047598		
UBERON:0037447	biolink:AnatomicalEntity	wall of male urethra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0037447		
MONDO:0016647	biolink:Disease	autosomal recessive Stickler syndrome	A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed.	Orphanet:250984|UMLS:CN201875	mondo.json	Stickler syndrome, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016647	UMLS:CN201875|Orphanet:250984	ordo_clinical_subtype
MONDO:0016648	biolink:Disease	multiple epiphyseal dysplasia	Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6.	Orphanet:251|GARD:0010756|OMIMPS:132400|ICD10CM:Q77.3|DOID:12721|HP:0002654|SCTID:59708000|ICD9:756.56|MedDRA:10028197	mondo.json	EDM|polyepiphyseal dysplasia|epiphyseal dysplasia, multiple|MED|multiple epiphyseal dysplasia|multiple epiphyseal dysplasia (disease)|Polyepiphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0016648	http://identifiers.org/snomedct/59708000|Orphanet:251|https://omim.org/phenotypicSeries/PS132400|DOID:12721	disease_grouping|ordo_group_of_disorders
MONDO:0016649	biolink:Disease	Warburg micro syndrome	Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	DOID:0060237|GARD:0005534|UMLS:CN158709|OMIMPS:600118|Orphanet:2510	mondo.json	Warburg-Sjo-Fledelius syndrome|microcephaly, microcornea, congenital cataract, intellectual disability, optic atrophy and hypogenitalism|Warburg micro syndrome|WARBM|microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism|micro syndrome	http://purl.obolibrary.org/obo/MONDO_0016649	Orphanet:2510|UMLS:CN158709|DOID:0060237|https://omim.org/phenotypicSeries/PS600118	ordo_malformation_syndrome
MONDO:0016643	biolink:Disease	frontonasal dysplasia	A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement.	SCTID:86610004|OMIMPS:136760|UMLS:C1876203|GARD:0002392|MESH:C538065|Orphanet:250	mondo.json	median cleft face syndrome|median cleft syndrome|FND1|frontonasal dysplasia 1	http://purl.obolibrary.org/obo/MONDO_0016643	https://omim.org/phenotypicSeries/PS136760|Orphanet:250|http://identifiers.org/snomedct/86610004|UMLS:C1876203|http://identifiers.org/mesh/C538065	disease_grouping|ordo_group_of_disorders
MONDO:0016644	biolink:Disease	logopenic progressive aphasia	Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge.	SCTID:716380002|GARD:0010791|Orphanet:250831|UMLS:C4049711	mondo.json	Logopenic variant PPA|LPA|Logopenic primary progressive aphasia	http://purl.obolibrary.org/obo/MONDO_0016644	http://identifiers.org/snomedct/716380002|UMLS:C4049711|Orphanet:250831	gard_rare|ordo_disease
NCBITaxon:1338369	biolink:OrganismalEntity	Dipnotetrapodomorpha		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1338369		
MONDO:0016645	biolink:Disease	obsolete rare neoplastic disease		Orphanet:250908|UMLS:CN201870	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016645	UMLS:CN201870|Orphanet:250908	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0016646	biolink:Disease	autosomal dominant optic atrophy and peripheral neuropathy	Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.	UMLS:CN201872|Orphanet:250932	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016646	UMLS:CN201872|Orphanet:250932	ordo_disease
MONDO:0016640	biolink:Disease	obsolete fibrous dysplasia of bone			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016640		
MONDO:0016641	biolink:Disease	limb transversal defect-cardiac anomaly syndrome		MESH:C535856|UMLS:C2931047|Orphanet:2492	mondo.json	Hecht-Scott syndrome	http://purl.obolibrary.org/obo/MONDO_0016641	http://identifiers.org/mesh/C535856|UMLS:C2931047|Orphanet:2492	ordo_malformation_syndrome
MONDO:0016642	biolink:Disease	meningioma	A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO)	MESH:D008579|MedDRA:10027191|HP:0002858|DOID:3565|ONCOTREE:MNG|ICDO:9530/0|SCTID:302820008|Orphanet:2495|GARD:0007015|UMLS:C0025286|NCIT:C3230	mondo.json	meningothelial cell tumor|supratentorial meningioma|meningioma (disease)|primary meningeal tumor|meningeal neoplasm|intracranial meningioma|meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	Orphanet:2495|UMLS:C0025286|http://identifiers.org/mesh/D008579|http://identifiers.org/snomedct/302820008|DOID:3565|NCIT:C3230	ordo_disease
HGNC:8079	biolink:NamedThing	FRMD7			mondo.json		http://identifiers.org/hgnc/8079		
MONDO:0004669	biolink:Disease	salivary gland cancer	A primary or metastatic malignant neoplasm that affects the major or minor salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma.	ICD9:142.8|ICD10CM:C08|DOID:8850|NCIT:C3811|SCTID:255072001|MESH:D012468	mondo.json	malignant neoplasm of salivary gland|malignant neoplasm of the salivary gland|malignant salivary gland tumor|saliva-secreting gland cancer|malignant saliva-secreting gland neoplasm|malignant neoplasm of major salivary gland|cancer of saliva-secreting gland|cancer of salivary gland|malignant salivary gland neoplasm|cancer of the salivary gland|malignant tumor of salivary gland|malignant tumor of the salivary gland|malignant neoplasm of saliva-secreting gland|salivary gland cancer|malignant neoplasm of salivary gland duct	http://purl.obolibrary.org/obo/MONDO_0004669	NCIT:C3811|http://purl.bioontology.org/ontology/ICD10CM/C08|http://identifiers.org/mesh/D012468|http://identifiers.org/snomedct/255072001|DOID:8850	
SO:0000011	biolink:SequenceFeature	non_protein_coding	A gene which can be transcribed, but will not be translated into a protein.		mondo.json	non protein-coding	http://purl.obolibrary.org/obo/SO_0000011		
MONDO:0002006	biolink:Disease	serous labyrinthitis	A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections.	UMLS:C0155504|DOID:1467|SCTID:41674001|ICD9:386.31	mondo.json	acute serous labyrinthitis	http://purl.obolibrary.org/obo/MONDO_0002006	http://identifiers.org/snomedct/41674001|UMLS:C0155504|DOID:1467	
MONDO:0004668	biolink:Disease	fascioliasis	A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction.	EFO:1001324|UMLS:C0015652|GARD:0006428|MESH:D005211|NCIT:C128387|SCTID:82308007|ICD9:121.3|ICD10CM:B66.3|DOID:885|UMLS:C1331532	mondo.json	infection by fasciola|fasciola hepatica infection|sheep liver fluke infection|Fasciolosis|liver flukes	http://purl.obolibrary.org/obo/MONDO_0004668	UMLS:C0015652|NCIT:C128387|UMLS:C1331532|DOID:885|http://purl.bioontology.org/ontology/ICD10CM/B66.3|http://identifiers.org/mesh/D005211|http://identifiers.org/snomedct/82308007	gard_rare
SO:0000010	biolink:SequenceFeature	protein_coding	A gene which, when transcribed, can be translated into a protein.		mondo.json	protein-coding	http://purl.obolibrary.org/obo/SO_0000010		
MONDO:0002007	biolink:Disease	obsolete VACTERL association			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002007		
MONDO:0002008	biolink:Disease	labyrinthitis	Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication.	ICD9:386.30|MESH:D007762|ICD9:386.3|DOID:1468|SCTID:23919004|NCIT:C128369|DOID:3930|ICD10CM:H83.0|UMLS:C0022893	mondo.json	inner ear infection|otitis interna|internal ear inflammation|inflammation of internal ear	http://purl.obolibrary.org/obo/MONDO_0002008	http://purl.bioontology.org/ontology/ICD10CM/H83.0|NCIT:C128369|http://identifiers.org/mesh/D007762|DOID:3930|DOID:1468|UMLS:C0022893|http://identifiers.org/snomedct/23919004	
OBO:ECTO_0400000	biolink:NamedThing	exposure to environmental layer	A exposure event involving the interaction of an exposure receptor to layer.		mondo.json	layer exposure	http://purl.obolibrary.org/obo/ECTO_0400000		
MONDO:0002009	biolink:Disease	major depressive disorder	An episode of depression lasting two or more weeks without an intervening episode of mania.	DOID:1470|SCTID:300706003|DOID:2848|MFOMD:0000143|OMIM:608516|MESH:D003865|EFO:0003761|SCTID:370143000|NCIT:C35094|ICD9:296.3|ICD9:296.2|ICD9:296.20|ICD9:296.30	mondo.json	major depressive disorder 2|major depressive disorder 1|major depressive disorder|unipolar depression|single major depressive episode|unipolar depression, susceptibility to|major depression|seasonal affective disorder, susceptibility to|recurrent major depression|major depressive disorder and accelerated response to antidepressant drug treatment|major depressive disorder, response to citalopram therapy in	http://purl.obolibrary.org/obo/MONDO_0002009	https://omim.org/entry/608516|NCIT:C35094|http://identifiers.org/mesh/D003865|DOID:1470|http://identifiers.org/snomedct/370143000	
MONDO:0004665	biolink:Disease	nodular sclerosis classical Hodgkin lymphoma	A subtype of classical Hodgkin lymphoma characterized by collagen bands that surround at least one nodule, and Hodgkin and Reed-Sternberg cells with lacunar type morphology. (WHO, 2008)	SCTID:118608000|ONCOTREE:NSCHL|EFO:0004708|ICD9:201.5|NCIT:C3518|DOID:8838|ICDO:9663/3	mondo.json	Hodgkin's disease, nodular sclerosis of unspecified site|Hodgkin lymphoma, nodular sclerosis|nodular sclerosis Classic Hodgkin lymphoma|nodular sclerosis Hodgkin's disease|Hodgkin's disease, nodular sclerosis NOS (morphologic abnormality)|classical Hodgkin lymphoma, nodular sclerosis|NSCHL|NSHD|Hodgkin's lymphoma, nodular sclerosis|NSHL|Hodgkin's disease nodular sclerosis|nodular sclerosis Hodgkin lymphoma|nodular sclerosis Hodgkin's lymphoma|nodular sclerosis classical Hodgkin lymphoma|Hodgkin's disease, nodular sclerosis|Hodgkin's nodular sclerosis	http://purl.obolibrary.org/obo/MONDO_0004665	http://identifiers.org/snomedct/118608000|DOID:8838|NCIT:C3518	
MONDO:0002002	biolink:Disease	postsurgical hypothyroidism		SCTID:27059002|UMLS:C0154157|ICD9:244.0|DOID:1458	mondo.json	postoperative hypothyroidism|post-surgical hypothyroidism	http://purl.obolibrary.org/obo/MONDO_0002002	UMLS:C0154157|DOID:1458|http://identifiers.org/snomedct/27059002	
MONDO:0028618	biolink:Disease	gastroenteric neuroendocrine neoplasm		Orphanet:481508	mondo.json		http://purl.obolibrary.org/obo/MONDO_0028618	Orphanet:481508	ordo_group_of_disorders|disease_grouping
MONDO:0004664	biolink:Disease	helminthiasis	A parasitic infection characterized by the infestation with worms, mainly in the intestine.	ICD9:120-129.99|ICD9:128.9|EFO:1001342|UMLS:C0018889|GARD:0006578|ICD9:128.8|DOID:883|MESH:D006373|ICD10CM:B65-B83|SCTID:27601005|NCIT:C84751	mondo.json	parasitic helminthiasis infectious disease|helminthiasis|helminth infection|helminthosis|worm infection	http://purl.obolibrary.org/obo/MONDO_0004664	DOID:883|http://identifiers.org/snomedct/27601005|http://identifiers.org/mesh/D006373|UMLS:C0018889|http://purl.bioontology.org/ontology/ICD10CM/B65-B83|NCIT:C84751	
MONDO:0002003	biolink:Disease	papilledema	Swelling around the optic disc, usually due to increased intracranial pressure or pressure on the optic nerve by a tumor.	ICD9:377.31|ICD9:377.00|NCIT:C3307|GARD:0007318|ICD9:377.0|SCTID:423341008|DOID:146|MESH:D010211|SCTID:73221001	mondo.json	edema of the optic disc|papilloedema|Choked disk	http://purl.obolibrary.org/obo/MONDO_0002003	DOID:146|http://identifiers.org/snomedct/423341008|NCIT:C3307	gard_rare
HGNC:8082	biolink:NamedThing	NYX			mondo.json		http://identifiers.org/hgnc/8082		
MONDO:0004667	biolink:Disease	sublingual gland cancer	A rare malignant neoplasm that arises from the sublingual gland. The majority are carcinomas.	DOID:8849|NCIT:C3527|SCTID:363381003|UMLS:C0153361|ICD9:142.2	mondo.json	malignant neoplasm of sublingual gland|cancer of sublingual gland|malignant neoplasm of the sublingual gland|malignant sublingual gland tumor|malignant sublingual gland neoplasm|sublingual gland cancer|malignant tumor of the sublingual gland|malignant tumor of sublingual gland	http://purl.obolibrary.org/obo/MONDO_0004667	UMLS:C0153361|DOID:8849|http://identifiers.org/snomedct/363381003|NCIT:C3527	
MONDO:0002004	biolink:Disease	atheroembolism of kidney	A cholesterol embolism that involves the kidney.	ICD10CM:I75.81|DOID:1460	mondo.json	cholesterol embolism of kidney|kidney cholesterol embolism	http://purl.obolibrary.org/obo/MONDO_0002004	http://purl.bioontology.org/ontology/ICD10CM/I75.81|DOID:1460	
MONDO:0002005	biolink:Disease	obsolete acrodysostosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002005		
MONDO:0004666	biolink:Disease	metagonimiasis	An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection.	GARD:0009745|UMLS:C0025530|DOID:884|NCIT:C128390|ICD9:121.5|SCTID:37832003	mondo.json	Metagonimus yokogawai infection|infections, Metagonimus yokogawai|infection by Metagonimus yokogawai	http://purl.obolibrary.org/obo/MONDO_0004666	NCIT:C128390|UMLS:C0025530|DOID:884|http://identifiers.org/snomedct/37832003	gard_rare
UBERON:0037455	biolink:AnatomicalEntity	wall of female urethra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0037455		
MONDO:0004661	biolink:Disease	trachea carcinoma in situ	A carcinoma that arises from the tracheal mucosa and is confined to the epithelial layer without evidence of further tissue invasion.	DOID:8802|ICD9:231.1|UMLS:C0154070|SCTID:92772005|NCIT:C3639|ICD10CM:D02.1	mondo.json	severe epithelial dysplasia of trachea|carcinoma in situ of the trachea|stage 0 trachea carcinoma|trachea in situ carcinoma|tracheal carcinoma in situ|trachea carcinoma in situ|carcinoma in situ of trachea	http://purl.obolibrary.org/obo/MONDO_0004661	http://identifiers.org/snomedct/92772005|UMLS:C0154070|http://purl.bioontology.org/ontology/ICD10CM/D02.1|DOID:8802|NCIT:C3639	
MONDO:0004660	biolink:Disease	lung carcinoma in situ	A carcinoma in situ involving a lung.	DOID:8800|ICD9:231.2|UMLS:C0685053|SCTID:92649001|NCIT:C27467	mondo.json	stage 0 lung cancer aJCC v7|stage 0 lung cancer aJCC v6|stage 0 lung carcinoma|bronchial carcinoma in situ|lung in situ carcinoma|stage 0 lung cancer|carcinoma in situ of lung|stage 0 lung cancer aJCC v6 and v7	http://purl.obolibrary.org/obo/MONDO_0004660	UMLS:C0685053|http://identifiers.org/snomedct/92649001|NCIT:C27467|DOID:8800	
MONDO:0004663	biolink:Disease	colon carcinoma in situ	A in situ carcinoma that involves the colon.	ICD10CM:D01.0|DOID:8826|UMLS:C0154061|ICD9:230.3|SCTID:92568009|NCIT:C3638	mondo.json	colon carcinoma in situ|stage 0 colon cancer aJCC v6 and v7|colon cancer stage 0|stage 0 colon carcinoma|carcinoma in situ of colon|stage 0 colon cancer aJCC v7|stage 0 colon cancer aJCC v6|stage 0 carcinoma of the colon|colonic carcinoma in situ|stage 0 carcinoma of colon|stage 0 colonic carcinoma|carcinoma in situ of the colon|colon in situ carcinoma|stage 0 colon cancer	http://purl.obolibrary.org/obo/MONDO_0004663	UMLS:C0154061|http://purl.bioontology.org/ontology/ICD10CM/D01.0|http://identifiers.org/snomedct/92568009|DOID:8826|NCIT:C3638	
MONDO:0002000	biolink:Disease	anaerobic meningitis		UMLS:C0854214|DOID:14559|ICD9:320.81|SCTID:445059005	mondo.json	meningitis due to anaerobic bacteria|meningitis caused by anaerobic bacteria	http://purl.obolibrary.org/obo/MONDO_0002000	DOID:14559|UMLS:C0854214|http://identifiers.org/snomedct/445059005	
NCBITaxon:2748762	biolink:OrganismalEntity	Colorado tick fever coltivirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2748762		
MONDO:0004662	biolink:Disease	heterophyiasis	An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection.	UMLS:C0152071|NCIT:C128389|SCTID:22905009|DOID:882|ICD9:121.6	mondo.json	infections, Heterophyes|Heterophyes infection|Heterophyes infectious disease	http://purl.obolibrary.org/obo/MONDO_0004662	NCIT:C128389|DOID:882|http://identifiers.org/snomedct/22905009|UMLS:C0152071	
MONDO:0002001	biolink:Disease	obsolete disease of cellular proliferation			mondo.json		http://purl.obolibrary.org/obo/MONDO_0002001		
MONDO:0016629	biolink:Disease	obsolete hemorrhagic disorder due to a platelet anomaly		UMLS:CN236380|Orphanet:248326	mondo.json	rare coagulopathy due to a platelet anomaly|rare coagulopathy due to a thrombopathy and/or thrombocytopenia|rare bleeding disorder due to a platelet anomaly|rare bleeding disorder due to a thrombopathy and/or thrombocytopenia|rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0016629	UMLS:CN236380|Orphanet:248326	ordo_group_of_disorders|disease_grouping
UBERON:0037459	biolink:AnatomicalEntity	hair of limb			mondo.json		http://purl.obolibrary.org/obo/UBERON_0037459		
GO:0060560	biolink:NamedThing	developmental growth involved in morphogenesis	The increase in size or mass of an anatomical structure that contributes to the structure attaining its shape.		mondo.json	differential growth	http://purl.obolibrary.org/obo/GO_0060560		
UBERON:0037458	biolink:AnatomicalEntity	hair of neck			mondo.json		http://purl.obolibrary.org/obo/UBERON_0037458		
GO:0060561	biolink:NamedThing	apoptotic process involved in morphogenesis	Any apoptotic process that contributes to the shaping of an anatomical structure.		mondo.json	apoptosis involved in development|apoptosis involved in morphogenesis|morphogenetic apoptosis	http://purl.obolibrary.org/obo/GO_0060561		
GO:0060562	biolink:NamedThing	epithelial tube morphogenesis	The process in which the anatomical structures of a tube are generated and organized from an epithelium. Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system.		mondo.json		http://purl.obolibrary.org/obo/GO_0060562		
MONDO:0016636	biolink:Disease	obsolete thrombotic disorder due to a constitutional platelet anomaly		UMLS:CN226986|Orphanet:248401	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016636	UMLS:CN226986|Orphanet:248401	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0016637	biolink:Disease	obsolete thrombotic disorder due to an acquired platelet anomaly		UMLS:CN226987|Orphanet:248404	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016637	UMLS:CN226987|Orphanet:248404	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0016638	biolink:Disease	familial hypodysfibrinogenemia		Orphanet:248408|UMLS:CN201839	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016638	UMLS:CN201839|Orphanet:248408	ordo_clinical_subtype
MONDO:0016639	biolink:Disease	lower limb deficiency-hypospadias syndrome	Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977.	UMLS:C2930962|Orphanet:2487|MESH:C535640	mondo.json	Fried-Goldberg-Mundel syndrome|lower limb malformation-hypospadias syndrome	http://purl.obolibrary.org/obo/MONDO_0016639	UMLS:C2930962|Orphanet:2487|http://identifiers.org/mesh/C535640	ordo_malformation_syndrome
MONDO:0016632	biolink:Disease	obsolete thrombotic disorder due to a coagulation factors defect		Orphanet:248358|UMLS:CN226982	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016632	UMLS:CN226982|Orphanet:248358	ordo_group_of_disorders|disease_grouping
MONDO:0016633	biolink:Disease	obsolete thrombotic disorder due to a constitutional coagulation factors defect		UMLS:CN226983|Orphanet:248361	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016633	UMLS:CN226983|Orphanet:248361	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0016634	biolink:Disease	obsolete thrombotic disorder due to an acquired coagulation factors defect	OBSOLETE. An instance of rare thrombotic disorder due to a coagulation factors defect that is acquired during the lifetime of the individual.	UMLS:CN226984|Orphanet:248365	mondo.json	acquired rare thrombotic disorder due to a coagulation factors defect	http://purl.obolibrary.org/obo/MONDO_0016634	UMLS:CN226984|Orphanet:248365	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0016635	biolink:Disease	obsolete thrombotic disorder due to a platelet anomaly		UMLS:CN226985|Orphanet:248368	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016635	UMLS:CN226985|Orphanet:248368	ordo_group_of_disorders|disease_grouping
HGNC:8086	biolink:NamedThing	OAS1			mondo.json		http://identifiers.org/hgnc/8086		
MONDO:0016630	biolink:Disease	isolated delta-storage pool disease	Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.	UMLS:CN201837|Orphanet:248340	mondo.json	isolated delta-SPD|isolated dense-storage pool disease|isolated dense-SPD	http://purl.obolibrary.org/obo/MONDO_0016630	UMLS:CN201837|Orphanet:248340	ordo_disease
MONDO:0016631	biolink:Disease	obsolete hemorrhagic disorder due to an acquired platelet anomaly	OBSOLETE. A hemorrhagic disorder due to a platelet anomaly which develops after birth.	Orphanet:248347|UMLS:CN226981	mondo.json	rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia|rare coagulopathy due to an acquired platelet anomaly|rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia|rare bleeding disorder due to an acquired platelet anomaly|rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0016631	UMLS:CN226981|Orphanet:248347	ordo_group_of_disorders|disease_grouping|obsoletion_candidate
UBERON:0003728	biolink:AnatomicalEntity	mediastinum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003728		
UBERON:0003729	biolink:AnatomicalEntity	mouth mucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003729		
UBERON:0003726	biolink:AnatomicalEntity	thoracic nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003726		
UBERON:0003727	biolink:AnatomicalEntity	intercostal nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003727		
UBERON:0003724	biolink:AnatomicalEntity	musculocutaneous nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003724		
UBERON:0003725	biolink:AnatomicalEntity	cervical nerve plexus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003725		
CHEBI:36586	biolink:ChemicalSubstance	carbonyl compound	Any compound containing the carbonyl group, C=O. The term is commonly used in the restricted sense of aldehydes and ketones, although it actually includes carboxylic acids and derivatives.		mondo.json	carbonyl compounds	http://purl.obolibrary.org/obo/CHEBI_36586		
CHEBI:36587	biolink:ChemicalSubstance	organic oxo compound	Organic compounds containing an oxygen atom, =O, doubly bonded to carbon or another element.		mondo.json	organic oxo compounds|oxo compounds	http://purl.obolibrary.org/obo/CHEBI_36587		
NCBITaxon:9030	biolink:OrganismalEntity	Gallus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_9030		
NCBITaxon:9031	biolink:OrganismalEntity	Gallus gallus		GC_ID:1	mondo.json	chickens|chicken|Phasianus gallus|Gallus gallus domesticus|bantam|Gallus domesticus	http://purl.obolibrary.org/obo/NCBITaxon_9031		
UBERON:0003715	biolink:AnatomicalEntity	splanchnic nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003715		
UBERON:0003716	biolink:AnatomicalEntity	recurrent laryngeal nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003716		
UBERON:0003713	biolink:AnatomicalEntity	splenic vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003713		
OBO:mondo#has_exclusion_reason	biolink:NamedThing	has exclusion reason			mondo.json		http://purl.obolibrary.org/obo/mondo#has_exclusion_reason		
UBERON:0003714	biolink:AnatomicalEntity	neural tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003714		
CHEBI:48560	biolink:ChemicalSubstance	dopaminergic agent	A drug used for its effects on dopamine receptors, on the life cycle of dopamine, or on the survival of dopaminergic neurons.		mondo.json	dopaminergic agents|dopamine agents|dopamine agent|dopamine drugs|dopamine drug	http://purl.obolibrary.org/obo/CHEBI_48560		
CHEBI:131604	biolink:ChemicalSubstance	Mycoplasma genitalium metabolite	Any bacterial metabolite produced during a metabolic reaction in Mycoplasma genitalium.		mondo.json	Mycoplasma genitalium metabolites	http://purl.obolibrary.org/obo/CHEBI_131604		
GO:0047708	biolink:NamedThing	biotinidase activity	Catalysis of the reaction: biotin amide + H2O = biotin + NH3.		mondo.json	amidohydrolase biotinidase activity|biotin-amide amidohydrolase activity	http://purl.obolibrary.org/obo/GO_0047708		
UBERON:0003722	biolink:AnatomicalEntity	middle cranial fossa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003722		
UBERON:0003723	biolink:AnatomicalEntity	vestibular nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003723		
UBERON:0003720	biolink:AnatomicalEntity	anterior cranial fossa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003720		
UBERON:0003721	biolink:AnatomicalEntity	lingual nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003721		
UBERON:0003709	biolink:AnatomicalEntity	circle of Willis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003709		
UBERON:0003706	biolink:AnatomicalEntity	laryngeal vocal fold			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003706		
UBERON:0003707	biolink:AnatomicalEntity	sinus of Valsalva			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003707		
UBERON:0003704	biolink:AnatomicalEntity	intrahepatic bile duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003704		
UBERON:0003705	biolink:AnatomicalEntity	Meckel's diverticulum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003705		
UBERON:0003703	biolink:AnatomicalEntity	extrahepatic bile duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003703		
UBERON:0003711	biolink:AnatomicalEntity	brachiocephalic vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003711		
UBERON:0003712	biolink:AnatomicalEntity	cavernous sinus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003712		
NCBITaxon:189359	biolink:OrganismalEntity	Xylariales incertae sedis		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_189359		
UBERON:0003701	biolink:AnatomicalEntity	calcaneal tendon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003701		
UBERON:0015757	biolink:AnatomicalEntity	heterogeneous tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015757		
HGNC:34	biolink:NamedThing	ABCA4			mondo.json		http://identifiers.org/hgnc/34		
HGNC:33	biolink:NamedThing	ABCA3			mondo.json		http://identifiers.org/hgnc/33		
UBERON:0015751	biolink:AnatomicalEntity	inferior tarsal muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015751		
HGNC:37	biolink:NamedThing	ABCA7			mondo.json		http://identifiers.org/hgnc/37		
HGNC:29	biolink:NamedThing	ABCA1			mondo.json		http://identifiers.org/hgnc/29		
UBERON:0001114	biolink:AnatomicalEntity	right lobe of liver			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001114		
UBERON:0001113	biolink:AnatomicalEntity	lobe of liver			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001113		
NCBITaxon:9072	biolink:OrganismalEntity	Phasianinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_9072		
UBERON:0001115	biolink:AnatomicalEntity	left lobe of liver			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001115		
UBERON:0001112	biolink:AnatomicalEntity	latissimus dorsi muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001112		
NCIT:C147564	biolink:NamedThing	Hormone Resistance			mondo.json		http://purl.obolibrary.org/obo/NCIT_C147564		
HGNC:40	biolink:NamedThing	ABCB1			mondo.json		http://identifiers.org/hgnc/40		
HGNC:43	biolink:NamedThing	TAP1			mondo.json		http://identifiers.org/hgnc/43		
HGNC:42	biolink:NamedThing	ABCB11			mondo.json		http://identifiers.org/hgnc/42		
HGNC:45	biolink:NamedThing	ABCB4			mondo.json		http://identifiers.org/hgnc/45		
HGNC:44	biolink:NamedThing	TAP2			mondo.json		http://identifiers.org/hgnc/44		
HGNC:47	biolink:NamedThing	ABCB6			mondo.json		http://identifiers.org/hgnc/47		
HGNC:48	biolink:NamedThing	ABCB7			mondo.json		http://identifiers.org/hgnc/48		
UBERON:0001103	biolink:AnatomicalEntity	diaphragm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001103		
UBERON:0001102	biolink:AnatomicalEntity	cartilage of main bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001102		
UBERON:0001105	biolink:AnatomicalEntity	clavicle bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001105		
CHEBI:36527	biolink:ChemicalSubstance	glycosylsphingoid			mondo.json		http://purl.obolibrary.org/obo/CHEBI_36527		
PO:0020148	biolink:NamedThing	shoot apical meristem	A shoot system meristem (PO:0006079) formed at the apex of the shoot axis (PO:0025029), including those originating from an axillary bud meristem (PO:0000232).	PO_GIT:472	mondo.json	SAM (exact)|meristema apical del epiblasto (epiblastema) (Spanish, exact)|promeristem (broad)|primary shoot meristem (related)|茎頂分裂組織 (Japanese, exact)	http://purl.obolibrary.org/obo/PO_0020148		TraitNet
PO:0020144	biolink:NamedThing	apical meristem	A maximal portion of meristem tissue (PO:0009013) located at a shoot apex (PO:0000037) or root tip (PO:0000025).	PO_GIT:579	mondo.json	頂端分裂組織 (Japanese, exact)|meristema apical (Spanish, exact)|AM (exact)|promeristem (broad)|primary meristem (related)	http://purl.obolibrary.org/obo/PO_0020144		TraitNet
HGNC:20	biolink:NamedThing	AARS1			mondo.json		http://identifiers.org/hgnc/20		
HGNC:23	biolink:NamedThing	ABAT			mondo.json		http://identifiers.org/hgnc/23		
HGNC:19	biolink:NamedThing	AANAT			mondo.json		http://identifiers.org/hgnc/19		
HGNC:8008	biolink:NamedThing	NRXN1			mondo.json		http://identifiers.org/hgnc/8008		
UBERON:0015717	biolink:AnatomicalEntity	smooth muscle tissue layer of ejaculatory duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015717		
UBERON:0015716	biolink:AnatomicalEntity	anal canal epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015716		
NCIT:C94299	biolink:NamedThing	Receptor Status			mondo.json		http://purl.obolibrary.org/obo/NCIT_C94299		
HGNC:8002	biolink:NamedThing	NRL			mondo.json		http://identifiers.org/hgnc/8002		
MONDO:0100320	biolink:Disease	post-COVID-19 disorder	A SARS-CoV-2-related disease that is caused by infection by SARS-CoV-2, and manifests after the original primary infection.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100320		
MONDO:0100321	biolink:Disease	viral disease or post-viral disorder	A viral infectious disease that result from the presence and activity of a viral agent, or a disorder that follows infection with an viral agent but is distinct from the usual manifestations of the infection itself.		mondo.json	viral infectious disease or sequela	http://purl.obolibrary.org/obo/MONDO_0100321		disease_grouping
MONDO:0100322	biolink:Disease	non-Zellweger spectrum disorder	A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7.		mondo.json	non-Zellweger spectrum disorder	http://purl.obolibrary.org/obo/MONDO_0100322		disease_grouping
GO:0008168	biolink:NamedThing	methyltransferase activity	Catalysis of the transfer of a methyl group to an acceptor molecule.		mondo.json	methylase	http://purl.obolibrary.org/obo/GO_0008168		
HGNC:28396	biolink:NamedThing	TMEM67			mondo.json		http://identifiers.org/hgnc/28396		
MONDO:0100325	biolink:Disease	odontochondrodysplasia 1	A very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.	SCTID:717823001|Orphanet:166272|OMIM:184260|GARD:0008717|UMLS:CN200045	mondo.json	spondylometaphyseal dysplasia with dentinogenesis imperfecta|odontochondrodysplasia|Goldblatt chondrodysplasia|chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome|ODCD|Goldblatt syndrome	http://purl.obolibrary.org/obo/MONDO_0100325	Orphanet:166272|http://identifiers.org/snomedct/717823001|UMLS:CN200045|https://omim.org/entry/184260	ordo_malformation_syndrome
MONDO:0100326	biolink:Disease	Glanzmann thrombasthenia		Orphanet:849|OMIMPS:273800	mondo.json	Glanzmann thrombasthenia	http://purl.obolibrary.org/obo/MONDO_0100326	https://omim.org/phenotypicSeries/PS273800|Orphanet:849	
MONDO:0100327	biolink:Disease	hypercholanemia, familial		OMIMPS:607748	mondo.json	hypercholanemia, familial|familial hypercholanemia	http://purl.obolibrary.org/obo/MONDO_0100327	https://omim.org/phenotypicSeries/PS607748	
MONDO:0100318	biolink:Disease	SARS-CoV-2-related disease	A viral disease or post-viral disorder caused by infection with severe acute respiratory syndrome coronavirus 2 or the associated aftereffects of the disease.		mondo.json	COVID-19-related disease	http://purl.obolibrary.org/obo/MONDO_0100318		disease_grouping
GO:0008172	biolink:NamedThing	S-methyltransferase activity	Catalysis of the transfer of a methyl group to the sulfur atom of an acceptor molecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0008172		
MONDO:0100319	biolink:Disease	COVID-19–associated multisystem inflammatory syndrome in adults	A inflammatory syndrome in adults infected by the SARS-CoV-2 with severe illness requiring hospitalization in a person aged ≥21 years; a positive test result for current or previous SARS-CoV-2 infection (nucleic acid, antigen, or antibody) during admission or in the previous 12 weeks; severe dysfunction of one or more extrapulmonary organ systems (e.g., hypotension or shock, cardiac dysfunction, arterial or venous thrombosis or thromboembolism, or acute liver injury); laboratory evidence of severe inflammation (e.g., elevated CRP, ferritin, D-dimer, or interleukin-6); and absence of severe respiratory illness (to exclude patients in which inflammation and organ dysfunction might be attributable simply to tissue hypoxia).		mondo.json	MIS-A	http://purl.obolibrary.org/obo/MONDO_0100319		
GO:0033120	biolink:NamedThing	positive regulation of RNA splicing	Any process that activates or increases the frequency, rate or extent of RNA splicing.		mondo.json		http://purl.obolibrary.org/obo/GO_0033120		
GO:0033119	biolink:NamedThing	negative regulation of RNA splicing	Any process that stops, prevents, or reduces the frequency, rate or extent of RNA splicing.		mondo.json		http://purl.obolibrary.org/obo/GO_0033119		
MONDO:0100330	biolink:Disease	disease arising from reactivation of latent virus	An infectious disease that arises from reactivation of a virus from a latent phase to a lytic phase.		mondo.json	latent infection	http://purl.obolibrary.org/obo/MONDO_0100330		
PATO:0001985	biolink:NamedThing	frozen	A quality inhering in a bearer by virtue of the bearer's being kept below its freezing point.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001985		
MONDO:0100332	biolink:Disease	disease has primary infectious agent			mondo.json		http://purl.obolibrary.org/obo/MONDO_0100332		
MONDO:0100333	biolink:Disease	disease caused by reactivation of latent infectious agent			mondo.json		http://purl.obolibrary.org/obo/MONDO_0100333		
MONDO:0100334	biolink:Disease	obsolete viral infectious disease or sequela			mondo.json		http://purl.obolibrary.org/obo/MONDO_0100334		
MONDO:0100336	biolink:Disease	infectious disease or post-infectious disorder	A disease or disorder that result from the presence and activity of a microbial, viral, fungal or parasitic agent, or a disorder that follows infection with an infectious agent but is distinct from the usual manifestations of the infection itself.		mondo.json	infectious disease or sequela	http://purl.obolibrary.org/obo/MONDO_0100336		harrisons_view|disease_grouping
PATO:0001987	biolink:NamedThing	saccular	A structural quality inhering in a bearer by virtue of the bearer's having a three dimensional cavity with a narrow or no opening, and often containing an anatomical substance.		mondo.json	sacular	http://purl.obolibrary.org/obo/PATO_0001987		
MONDO:0100337	biolink:Disease	SEC61A1 deficiency	Any Mendelian disease in which the cause of the disease is a mutation in the SEC61A1 gene. It is characterized by variable presentation of phenotypes in patients, including autosomal dominant tubulointerstitial kidney disease, primary antibody deficiency, and severe congenital neutropenia.		mondo.json	SEC61A1 deficiency	http://purl.obolibrary.org/obo/MONDO_0100337		clingen
MONDO:0100338	biolink:Disease	urinary tract infection		MESH:D014552	mondo.json	urinary tract infection (disease)	http://purl.obolibrary.org/obo/MONDO_0100338	http://identifiers.org/mesh/D014552	
NCBITaxon:11909	biolink:OrganismalEntity	Human T-lymphotropic virus 2		GC_ID:1	mondo.json	human T-cell leukemia virus II|HTLV-2|Human T-lymphotropic virus Type II|Human T-Cell leukemia virus type 2|Human T-cell lymphotropic virus type 2|HTLV-II|Human lymphotropic virus type 2|human T cell leukemia virus II HTLV-II|human T-cell lymphotropic virus type II HTLV-II|human T lymphotropic virus type II HTLV-II|Human lymphotropic virus type II|Human T-cell lymphotropic virus type II|Human T-cell leukemia virus type II	http://purl.obolibrary.org/obo/NCBITaxon_11909		
MONDO:0100328	biolink:Disease	microcephaly, epilepsy, and diabetes syndrome		OMIMPS:614231	mondo.json		http://purl.obolibrary.org/obo/MONDO_0100328	https://omim.org/phenotypicSeries/PS614231	
NCBITaxon:11908	biolink:OrganismalEntity	Human T-cell leukemia virus type I		GC_ID:1	mondo.json	Human lymphotropic virus type I|Human T-cell leukemia virus-1|Human T-lymphotropic virus type 1|Human T cell leukemia virus type 1|Human T-cell lymphotropic virus 1|HTLV-1|human T-cell leukemia virus type 1 HTLV-1|Human T-cell leukemia virus type I HTLV-I|human T-cell lymphoma/leukemia virus type I HTLV-I|Human T-cell leukemia virus type 1|human T cell lymphotropic virus type I HTLV-I|human T cell leukemia virus type 1 HTLV-1|Human T-lymphotropic virus 1|human T-cell lymphotropic virus type 1, HTLV-1|human T-cell leukemia/lymphotropic virus type I HTLV-I|human T-lymphotropic virus type 1 HTLV-1|HTLV-I|human T-lymphotropic virus type I HTLV-I|Human adult T-cell leukemia virus|human T-cell leukemia virus I|human T-cell leukemia/lymphoma virus type I HTLV-I|Human T-cell lymphotropic virus type 1|Human T-cell lymphotropic virus type I	http://purl.obolibrary.org/obo/NCBITaxon_11908		
MONDO:0100329	biolink:Disease	primary viral infectious disease	The initial viral infectious disase that causes illness.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100329		
GO:0035773	biolink:NamedThing	insulin secretion involved in cellular response to glucose stimulus	The regulated release of proinsulin from secretory granules (B granules) in the B cells of the pancreas; accompanied by cleavage of proinsulin to form mature insulin, in response to a glucose stimulus.		mondo.json	insulin secretion involved in cellular response to glucose	http://purl.obolibrary.org/obo/GO_0035773		
GO:0035774	biolink:NamedThing	positive regulation of insulin secretion involved in cellular response to glucose stimulus	Any process that increases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose.		mondo.json	positive regulation of insulin secretion in response to glucose	http://purl.obolibrary.org/obo/GO_0035774		
HP:0007435	biolink:PhenotypicFeature	obsolete Diffuse palmoplantar keratoderma			mondo.json		http://purl.obolibrary.org/obo/HP_0007435		
HGNC:16391	biolink:NamedThing	CARD9			mondo.json		http://identifiers.org/hgnc/16391		
HGNC:16393	biolink:NamedThing	CARD11			mondo.json		http://identifiers.org/hgnc/16393		
MONDO:0100340	biolink:Disease	Friedreich ataxia 1	Any Friedreich ataxia in which the cause of the disease is a mutation in the FXN gene.	OMIM:229300|MESH:C565561|Orphanet:95|UMLS:C1856689	mondo.json	Friedreich ataxia type 1|FRDA1|Friedreich ataxia 1|Friedreich ataxia with retained reflexes|Friedreich ataxia	http://purl.obolibrary.org/obo/MONDO_0100340	UMLS:C1856689|http://identifiers.org/mesh/C565561|https://omim.org/entry/229300|Orphanet:95	
MONDO:0100342	biolink:Disease	malignant glioma	A grade III or grade IV glioma arising from the central nervous system. This category includes glioblastoma, anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma.	NCIT:C4822|ICDO:9380/3|MedDRA:10018338|UMLS:C0555198|KEGG:05214|DOID:3070	mondo.json	malignant glial tumor|malignant glial neoplasm|glioma|malignant neuroglial tumor|high grade glioma|glial cell tumor|high-grade glioma|malignant neuroglial neoplasm|malignant glioma|glioma, malignant|neuroglial tumor	http://purl.obolibrary.org/obo/MONDO_0100342	DOID:3070|NCIT:C4822|UMLS:C0555198	disease_grouping|ordo_group_of_disorders
PATO:0001997	biolink:NamedThing	decreased amount	An amount which is relatively low.		mondo.json	decreased|subnumerary|reduced|present in fewer numbers in organism|decreased number	http://purl.obolibrary.org/obo/PATO_0001997		
MONDO:0100343	biolink:Disease	antenatal Bartter syndrome	A phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome.	Orphanet:93604	mondo.json	Bartter syndrome, furosemide type|hyperprostaglandin E syndrome|Bartter syndrome, furosemide-amiloride type	http://purl.obolibrary.org/obo/MONDO_0100343	Orphanet:93604	
MONDO:0100344	biolink:Disease	Bartter disease type 1		GARD:0000830|OMIM:601678|OMIM:241200|OMIM:300971|MESH:C537652|DOID:0110142|SCTID:700107006	mondo.json	antenatal Bartter syndrome|hyperprostaglandin E syndrome 1|Bartter syndrome antenatal type 1|SLC12A1 Bartter syndrome|Bartter syndrome type 1|hypokalemic alkalosis with hypercalciuria, antenatal, 1|Bartter syndrome, type 1|Bartter syndrome, type 1, antenatal|Bartter syndrome type 1 antenatal|hyperprostaglandin E syndrome|hypokalemic alkalosis with hypercalciuria 1 antenatal|antenatal Bartter syndrome type 1|Bartter disease type 1|Bartter syndrome, antenatal, type 1|hypokalemic alkalosis with hypercalciuria antenatal 1|Bartter syndrome, furosemide-amiloride type|hypokalemic alkalosis with hypercalciuria 1, antenatal|BARTS1|Bartter syndrome, furosemide type|Bartter syndrome caused by mutation in SLC12A1	http://purl.obolibrary.org/obo/MONDO_0100344	http://identifiers.org/mesh/C537652|DOID:0110142|http://identifiers.org/snomedct/700107006|https://omim.org/entry/601678	ordo_clinical_subtype|gard_rare
MONDO:0100345	biolink:Disease	lactose intolerance		DOID:10604|UMLS:C0022951|MESH:D007787|HP:0004789|EFO:1000062|ICD9:271.3|SCTID:267425008|NCIT:C3154	mondo.json	lactase persistence|lactose intolerance (disease)|lactose intolerance|LM - lactose malabsorption	http://purl.obolibrary.org/obo/MONDO_0100345	http://identifiers.org/mesh/D007787|http://identifiers.org/snomedct/267425008|UMLS:C0022951|DOID:10604|NCIT:C3154	
PATO:0001995	biolink:NamedThing	organismal quality	A quality that inheres in an entire organism or part of an organism.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001995		
MONDO:0100347	biolink:Disease	carcinoid syndrome		EFO:1000852|ICD10CM:E34.0|NCIT:C3215|SCTID:35868009|MedDRA:10007270|ICD9:259.2|OMIM:114900|GARD:0005994|Orphanet:100093	mondo.json	malignant carcinoid syndrome|carcinoid syndrome|carcinoid tumors, intestinal|carcinoid tumor syndrome	http://purl.obolibrary.org/obo/MONDO_0100347	http://identifiers.org/snomedct/35868009|http://purl.bioontology.org/ontology/ICD10CM/E34.0|Orphanet:100093|NCIT:C3215	gard_rare|ordo_clinical_syndrome
GO:0008144	biolink:NamedThing	obsolete drug binding	OBSOLETE. Binding to a drug, a naturally occurring or synthetic substance, other than a nutrient, that, when administered or applied to an organism, affects the structure or functioning of the organism;typically used in the diagnosis, prevention, or treatment of disease.		mondo.json		http://purl.obolibrary.org/obo/GO_0008144		
MONDO:0100348	biolink:Disease	neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems.	OMIM:619091	mondo.json	NEDMILG, AR|neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0100348	https://omim.org/entry/619091	
MONDO:0100349	biolink:Disease	COACH syndrome	A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability.	OMIM:216360|OMIM:619113|OMIM:619111|Orphanet:1454|GARD:0001410|SCTID:721847002|DOID:0111589|UMLS:C1857662|MESH:C536430	mondo.json	Joubert syndrome with hepatic defect|Joubert syndrome with congenital hepatic fibrosis|JS-H|cerebellar vermis hypo/aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis|gentile syndrome|cerebellar vermis hypoplasia, oligophrenia, ataxia, colobomas, and hepatic fibrosis|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis	http://purl.obolibrary.org/obo/MONDO_0100349	http://identifiers.org/snomedct/721847002|Orphanet:1454|UMLS:C1857662|http://identifiers.org/mesh/C536430|DOID:0111589	
MONDO:0100339	biolink:Disease	Friedreich ataxia	An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty.	MESH:D005621|DOID:12705|SCTID:10394003|UMLS:C0016719|ICD9:334.0|GARD:0006468|NCIT:C84718|MedDRA:10017374	mondo.json	hereditary spinal sclerosis|Friedreich ataxia with retained reflexes|Friedreich's ataxia|FRDA|FA|Friedreich ataxia|spinocerebellar ataxia, Friedreich|Friedreich's tabes|hereditary spinal ataxia	http://purl.obolibrary.org/obo/MONDO_0100339	NCIT:C84718|UMLS:C0016719|http://identifiers.org/snomedct/10394003|DOID:12705|http://identifiers.org/mesh/D005621	gard_rare|ordo_disease
GO:0008152	biolink:NamedThing	metabolic process	The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation.		mondo.json	metabolism resulting in cell growth|metabolism|multicellular organism metabolic process|metabolic process resulting in cell growth|single-organism metabolic process	http://purl.obolibrary.org/obo/GO_0008152		
GO:0008150	biolink:NamedThing	biological_process	A biological process represents a specific objective that the organism is genetically programmed to achieve. Biological processes are often described by their outcome or ending state, e.g., the biological process of cell division results in the creation of two daughter cells (a divided cell) from a single parent cell. A biological process is accomplished by a particular set of molecular functions carried out by specific gene products (or macromolecular complexes), often in a highly regulated manner and in a particular temporal sequence.		mondo.json	single-organism process|physiological process|biological process|single organism process	http://purl.obolibrary.org/obo/GO_0008150		
PATO:0001992	biolink:NamedThing	cellularity	An organismal quality inhering in a bearer by virtue of the bearer's consisting cells.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001992		
PATO:0001993	biolink:NamedThing	multicellular	A cellularity quality inhering in a bearer by virtue of the bearer's consisting of more than one cell.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001993		
MONDO:0100350	biolink:Disease	neuronopathy, distal hereditary motor, type 5		Orphanet:139536|MESH:C563443	mondo.json	distal HMN V|distal spinal muscular atrophy type 5|dHMN5|distal hereditary motor neuropathy type V	http://purl.obolibrary.org/obo/MONDO_0100350	http://identifiers.org/mesh/C563443|Orphanet:139536	
MONDO:0100352	biolink:Disease	episodic kinesigenic dyskinesia 1		MESH:C537180|OMIM:128200|DOID:0090053|GARD:0008721|ICD9:333.5|SCTID:609221008|OMIM:611031	mondo.json	paroxysmal kinesigenic dyskinesia|episodic kinesigenic dyskinesia 1|PRRT2 episodic kinesigenic dyskinesia|dystonia, familial paroxysmal|DYT-PRRT2|paroxysmal kinesigenic choreoathetosis|dystonia 10|episodic kinesigenic dyskinesia caused by mutation in PRRT2|PxMD-PRRT2|EKD1|episodic kinesigenic dyskinesia type 1	http://purl.obolibrary.org/obo/MONDO_0100352	http://identifiers.org/snomedct/609221008|DOID:0090053|https://omim.org/entry/128200|http://identifiers.org/mesh/C537180	
NCIT:C35920	biolink:NamedThing	Cribriform Pattern			mondo.json		http://purl.obolibrary.org/obo/NCIT_C35920		http://purl.obolibrary.org/obo/NCIT_C61410|http://purl.obolibrary.org/obo/NCIT_C77526|http://purl.obolibrary.org/obo/NCIT_C120531
MONDO:0100353	biolink:Disease	HHV-7 infectious disease	A disease caused by infection with herpesvirus-7.		mondo.json	HHV-7 infection|herpesvirus-7 infectious disease	http://purl.obolibrary.org/obo/MONDO_0100353		
MONDO:0100354	biolink:Disease	megacystis-microcolon-intestinal hypoperistalsis syndrome 1		DOID:0060610|OMIM:155310|OMIM:249210|GARD:0003442|Orphanet:2241|MESH:C536138|UMLS:C1864996|NCIT:C98982|SCTID:253781004|UMLS:C1608393	mondo.json	megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH|megacystis, microcolon, hypoperistalsis syndrome|megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome|MMIH syndrome|Berdon syndrome|megacystis, microcolon, intestinal hypoperistalsis syndrome|megacystis-microcolon-intestinal hypoperistalsis syndrome|MMIHS|megacystis microcolon intestinal hypoperistalsis syndrome	http://purl.obolibrary.org/obo/MONDO_0100354	http://identifiers.org/mesh/C536138|https://omim.org/entry/249210|http://identifiers.org/snomedct/253781004|DOID:0060610|NCIT:C98982|UMLS:C1608393|Orphanet:2241	ordo_malformation_syndrome
MONDO:0100355	biolink:Disease	classic or non-classic genetic disease presentation	A classic (severe) or non-classic (mild or intermediate) form of a genetic disease.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100355		
MONDO:0100356	biolink:Disease	classic presentation	A severe form of a genetic disease.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100356		
MONDO:0100357	biolink:Disease	non-classic presentation	A mild or intermediate form of a genetic disease.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100357		
HGNC:28385	biolink:NamedThing	VWA3B			mondo.json		http://identifiers.org/hgnc/28385		
MONDO:0100358	biolink:Disease	ectodermal dysplasia WNT10A related			mondo.json	ectodermal dysplasia WNT10A related	http://purl.obolibrary.org/obo/MONDO_0100358		disease_grouping
MONDO:0100359	biolink:Disease	herpes simplex type 1 infectious disease	A disease caused by infection with herpes simplex type 1.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100359		
MONDO:0100360	biolink:Disease	herpes simplex type 2 infectious disease	A disease caused by infection with herpes simplex type 2.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100360		
MONDO:0100361	biolink:Disease	lip herpes simplex type 1 infectious disorder	Any herpes simplex type 1 infectious disease that involves the lip. This virus usually responsible for cold sores (herpes labialis).		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100361		
MONDO:0100362	biolink:Disease	lip herpes simplex type 2 infectious disorder	Any herpes simplex type 2 infectious disease that involves the lip.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100362		
MONDO:0100363	biolink:Disease	genital herpes simplex type 2 infectious disorder	Any herpes simplex type 2 infectious disease that involves the genitals.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100363		
MONDO:0100364	biolink:Disease	genital herpes simplex type 1 infectious disorder	Any herpes simplex type 1 infectious disease that involves the genitals.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100364		
MONDO:0100365	biolink:Disease	mucopolysaccharidosis or mucopolysaccharidosis-like disorder	Any disease that presents as a mucopolysaccharidosis or mucopolysaccharidosis-like disorder.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100365		
MONDO:0100366	biolink:Disease	occupational disorder	Any disorder that is realized in response to an exposure to occupation.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100366		
HGNC:28358	biolink:NamedThing	D2HGDH			mondo.json		http://identifiers.org/hgnc/28358		
MONDO:0100367	biolink:Disease	port-wine nevi-mega cisterna magna-hydrocephalus syndrome	A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.	Orphanet:2703	mondo.json	nova syndrome	http://purl.obolibrary.org/obo/MONDO_0100367	Orphanet:2703	
MONDO:0100368	biolink:Disease	RPE65-related recessive retinopathy	A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene.		mondo.json	Leber congenital amaurosis caused by mutation in RPE65|RP20|amaurosis congenita of Leber II|RPE65 retinitis pigmentosa|Leber congenital amaurosis type 2|amaurosis congenita of Leber 2|retinitis pigmentosa 20|retinitis pigmentosa caused by mutation in RPE65|Leber congenital amaurosis 2|recessive RPE65 retinopathy|LCA2|RPE65 Leber congenital amaurosis|amaurosis congenita of Leber, type 2	http://purl.obolibrary.org/obo/MONDO_0100368		
MONDO:0100369	biolink:Disease	iatrogenic or non-iatrogenic	A iatrogenic or non-iatrogenic form of a disease.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100369		
CHR:9606-chr1q12-q21	biolink:NamedThing	1q12-q21 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr1q12-q21		
HGNC:16378	biolink:NamedThing	OTOA			mondo.json		http://identifiers.org/hgnc/16378		
HGNC:16380	biolink:NamedThing	TRIM32			mondo.json		http://identifiers.org/hgnc/16380		
MONDO:0100370	biolink:Disease	acute hepatitis B virus infection	A new infection by the hepatitis B virus, which can be transmitted by direct contact of infected blood with mucous membranes or open areas of the skin. Signs and symptoms may include loss of appetite, joint and muscle pain, low-grade fever and stomach pain. Two to six percent of adults progress to a chronic infection, while 90% of infants become chronically ill. A vaccine is available for those at risk.	NCIT:C157781	mondo.json	acute hepatitis B	http://purl.obolibrary.org/obo/MONDO_0100370	NCIT:C157781	
MONDO:0100371	biolink:Disease	acute hepatitis C virus infection	A new infection by the hepatitis C virus, which can be detected in blood. Signs and symptoms may include right upper quadrant abdominal pain, jaundice, dark urine, white stools and nausea. Approximately 15%-25% individuals clear the virus from their bodies without treatment. 75%-85% individuals develop chronic hepatitis C. There are possible treatments depending on individual characteristics.	NCIT:C157782	mondo.json	acute hepatitis C	http://purl.obolibrary.org/obo/MONDO_0100371	NCIT:C157782	
MONDO:0100372	biolink:Disease	disorder of peroxisomal transporter	Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport.		mondo.json	disorder of peroxisomal transporter defect	http://purl.obolibrary.org/obo/MONDO_0100372		
MONDO:0100373	biolink:Disease	acute myeloid leukemia, inv(16)(p13.1;q22)	Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.1;q22). (A chromosomal inversion that involves chromosome 16. It is associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)	NCIT:C9018	mondo.json	AML, inv(16)(p13.1q22)|AML, inv(16)(p13.1;q22)|AML, inv(16)(p13.1q22.1)|AML, inv(16)(p13q22)|AML, inv(16)(p13.1;q22.1)|AML, inv(16)(p13;q22)	http://purl.obolibrary.org/obo/MONDO_0100373	NCIT:C9018	
MONDO:0100374	biolink:Disease	acute myeloid leukemia, t(16;16)(p13.1;q22)	Any acute myeloid leukemia that has the chromosomal anomaly t(16;16)(p13.1;q22). (A chromosomal translocation that involves chromosome 16. It is often associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)	NCIT:C9019	mondo.json	AML, t(16;16)(p13q22)|AML, t(16;16)(p13.1q22.1)|AML, t(16;16)(p13;q22)|AML, t(16;16)(p13.1;q22)|AML, t(16;16)(p13.1;q22.1)|AML, t(16;16)(p13.1q22)	http://purl.obolibrary.org/obo/MONDO_0100374	NCIT:C9019	
MONDO:0100375	biolink:Disease	acute myeloid leukemia, t(15;17)(q24;q21)	Any acute myeloid leukemia that has the chromosomal anomaly t(15;17)(q24;q21). (A chromosomal translocation associated with creation of a fusion between the PML and RARA genes. It is seen in variants of acute promyelocytic leukemia.)	NCIT:C36055	mondo.json	AML, t(15;17)(q22;q21)|AML, t(15;17)(q24;q21)|AML, t(15;17)(q22;q12)	http://purl.obolibrary.org/obo/MONDO_0100375	NCIT:C36055	
GO:0035735	biolink:NamedThing	intraciliary transport involved in cilium assembly	The bidirectional movement of large protein complexes along microtubules within a cilium that contributes to cilium assembly.		mondo.json	intraflagellar transport involved in cilium morphogenesis|intraflagellar transport|intraciliary transport involved in cilium morphogenesis	http://purl.obolibrary.org/obo/GO_0035735		
MONDO:0100376	biolink:Disease	acute myeloid leukemia, t(9;11)(p21.3;q23.3)	Any acute myeloid leukemia that has the chromosomal anomaly t(9;11)(p21.3;q23.3). (A cytogenetic abnormality that refers to the translocation of the short arm (p21.3) of chromosome 9 and the long arm (q23.3) of chromosome 11. It is associated with the development of acute myeloid leukemia with the MLLT3-MLL fusion gene transcript.)		mondo.json	AML, t(9;11)(p22;q23)|AML, t(9;11)(p21.3;q23.3)	http://purl.obolibrary.org/obo/MONDO_0100376		obsoletion_candidate
MONDO:0100377	biolink:Disease	acute myeloid leukemia, t(10;11)(p12;q23)	Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p12;q23). (A cytogenetic abnormality that refers to the translocation of chromosome 10p12 with chromosome 11q23. It is associated with acute myeloid leukemia in childhood.)	NCIT:C132101	mondo.json	AML, t(10;11)(p12;q23)	http://purl.obolibrary.org/obo/MONDO_0100377	NCIT:C132101	
HGNC:28369	biolink:NamedThing	THOC6			mondo.json		http://identifiers.org/hgnc/28369		
MONDO:0100378	biolink:Disease	acute myeloid leukemia, t(10;11)(p11.2;q23)	Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p11.2;q23). (A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/ABI1 fusions and acute myeloid leukemia.)		mondo.json	AML, t(10;11)(p11.2;q23)	http://purl.obolibrary.org/obo/MONDO_0100378		
MONDO:0100379	biolink:Disease	acute myeloid leukemia, t(1;11)(q21;q23)	Any acute myeloid leukemia that has the chromosomal anomaly t(1;11)(q21;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q21) of chromosome 1 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/MLLT11 (AF1Q) fusions, acute myeloid leukemia and some cases of acute lymphoblastic leukemia.)		mondo.json	AML, t(1;11)(q21;q23)	http://purl.obolibrary.org/obo/MONDO_0100379		
MONDO:0100380	biolink:Disease	acute myeloid leukemia, t(4;11)(q21;q23)	Any acute myeloid leukemia that has the chromosomal anomaly t(4;11)(q21;q23). (A chromosomal abnormality consisting of the translocation of 4q21 with 11q23.)		mondo.json	AML, t(4;11)(q21;q23.3)|AML, t(4;11)(q21;q23)	http://purl.obolibrary.org/obo/MONDO_0100380		
MONDO:0100381	biolink:Disease	acute myeloid leukemia, t(6;11)(q27;q23)	Any acute myeloid leukemia that has the chromosomal anomaly t(6;11)(q27;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q27) of chromosome 6 and the long arm (q23) of chromosome 11. It is associated with the development of de novo acute myeloid leukemia.)	NCIT:C132105	mondo.json	AML, t(6;11)(q27;q23)|AML, t(6;11)(q27;q23.3)	http://purl.obolibrary.org/obo/MONDO_0100381	NCIT:C132105	
MONDO:0100382	biolink:Disease	acute myeloid leukemia, t(6;9)(p23;q34.1)	Any acute myeloid leukemia that has the chromosomal anomaly t(6;9)(p23;q34.1). (A cytogenetic abnormality that refers to the translocation of the short arm (p23) of chromosome 6 and the long arm (q34.1) of chromosome 9. It is associated with DEK/NUP214 fusions, acute myeloid leukemia and myelodysplastic syndromes.)	NCIT:C82423	mondo.json	AML, t(6;9)(p22;q34)|AML, t(6;9)(p23;q34)|AML, t(6;9)(p23;q34.1)|AML, t(6;9)(p22.3;q34.1)	http://purl.obolibrary.org/obo/MONDO_0100382	NCIT:C82423	
MONDO:0100383	biolink:Disease	acute myeloid leukemia, t(11;19)(q23;p13)	Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13) of chromosome 19. It is associated with KMT2A (MLL) fusions, including those with MLLT1 (ENL) and ELL, and acute myeloid leukemia.)		mondo.json	AML, t(11;19)(q23;p13)	http://purl.obolibrary.org/obo/MONDO_0100383		
MONDO:0100384	biolink:Disease	acute myeloid leukemia, t(11;19)(q23;p13.1)	Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13.1). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13.1) of chromosome 19. It is associated with the development of acute myeloid leukemia with variant MLL translocations and topoisomerase II inhibitor-related acute myeloid leukemia.)		mondo.json	AML, t(11;19)(q23;p13.1)	http://purl.obolibrary.org/obo/MONDO_0100384		
MONDO:0100385	biolink:Disease	acute myeloid leukemia, t(11;19)(q23.3;p13.3)	Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23.3;p13.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23.3) of chromosome 11 and the short arm (p13.3) of chromosome 19. It is associated with KMT2A (MLL)/MLLT1 (ENL) fusions and acute myeloid leukemia.)		mondo.json	AML, t(11;19)(q23;p13.3)|AML, t(11;19)(q23.3;p13.3)	http://purl.obolibrary.org/obo/MONDO_0100385		
MONDO:0100386	biolink:Disease	acute myeloid leukemia, t(v;11q23.3)	Any acute myeloid leukemia that has the chromosomal anomaly t(v;11q23.3). (A chromosomal abnormality consisting of the translocation of genetic material from any one of several chromosomes to the 11q23.3 region, resulting in an MLL gene rearrangement.)		mondo.json	AML, t(11;v)(q23.3;v)|AML, t(V;11)(v;q23)|AML, t(V;11)(v;q23.3)|AML, 11q23.3 Translocation|AML, t(v;11q23.3)|AML, t(11;v)(q23;v)	http://purl.obolibrary.org/obo/MONDO_0100386		
MONDO:0100387	biolink:Disease	acute myeloid leukemia, Monosomy 7	Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 7. (A chromosomal abnormality consisting of the absence of one of the copies of chromosome 7 in somatic cells.)		mondo.json	AML, Monosomy 7	http://purl.obolibrary.org/obo/MONDO_0100387		obsoletion_candidate
GO:0008104	biolink:NamedThing	protein localization	Any process in which a protein is transported to, or maintained in, a specific location.		mondo.json	protein localisation|cellular protein localization|asymmetric protein localization|establishment and maintenance of protein localization|channel localizer activity|cellular protein localisation|asymmetric protein localisation|establishment and maintenance of asymmetric protein localization	http://purl.obolibrary.org/obo/GO_0008104		
MONDO:0100388	biolink:Disease	acute myeloid leukemia, Monosomy 5	Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 5. (A cytogenetic aneuploidy abnormality that refers to the presence of one chromosome 5 only. It is associated with the development of refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts.)		mondo.json	AML, Monosomy 5	http://purl.obolibrary.org/obo/MONDO_0100388		
HGNC:28337	biolink:NamedThing	C9orf72			mondo.json		http://identifiers.org/hgnc/28337		
MONDO:0100389	biolink:Disease	acute myeloid leukemia, Trisomy 8	Any acute myeloid leukemia that has the chromosomal anomaly Trisomy 8. (A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.)	NCIT:C162775	mondo.json	AML, Trisomy 8|AML, tri8	http://purl.obolibrary.org/obo/MONDO_0100389	NCIT:C162775	
HP:0007447	biolink:PhenotypicFeature	Diffuse palmoplantar hyperkeratosis	Diffuse abnormal thickening of the skin on the palms and soles.	UMLS:C4021575|MSH:D015776	mondo.json	Hyperkeratosis, diffuse palmoplantar|Diffuse palmoplantar keratoderma	http://purl.obolibrary.org/obo/HP_0007447		
NCBITaxon:118968	biolink:OrganismalEntity	Coxiellaceae		GC_ID:11	mondo.json	Coxiella group	http://purl.obolibrary.org/obo/NCBITaxon_118968		
NCBITaxon:118969	biolink:OrganismalEntity	Legionellales		GC_ID:11	mondo.json	Legionellaceae group	http://purl.obolibrary.org/obo/NCBITaxon_118969		
HGNC:16356	biolink:NamedThing	USH1G			mondo.json		http://identifiers.org/hgnc/16356		
HGNC:16353	biolink:NamedThing	MAGED2			mondo.json		http://identifiers.org/hgnc/16353		
MONDO:0100390	biolink:Disease	acute myeloid leukemia, der12p	Any acute myeloid leukemia that has the chromosomal anomaly der12p. (A cytogenetic abnormality involving the rearrangement of two or more other chromosomes with the short arm of chromosome 12 (12p).)		mondo.json	AML, der(12p)|AML, der12p	http://purl.obolibrary.org/obo/MONDO_0100390		
MONDO:0100391	biolink:Disease	acute myeloid leukemia, t(2;12)	Any acute myeloid leukemia that has the chromosomal anomaly t(2;12). (A cytogenetic abnormality that involves a translocation between chromosomes 2 and 12.)		mondo.json	AML, t(2;12)	http://purl.obolibrary.org/obo/MONDO_0100391		
HGNC:16361	biolink:NamedThing	WHRN			mondo.json		http://identifiers.org/hgnc/16361		
MONDO:0100392	biolink:Disease	acute myeloid leukemia, t(11;17)	Any acute myeloid leukemia that has the chromosomal anomaly t(11;17). (A cytogenetic abnormality that involves a translocation between chromosomes 11 and 17.)		mondo.json	AML, t(11;17)	http://purl.obolibrary.org/obo/MONDO_0100392		
MONDO:0100393	biolink:Disease	acute myeloid leukemia, t(8;16)	Any acute myeloid leukemia that has the chromosomal anomaly t(8;16). (A cytogenetic abnormality that involves a translocation between chromosomes 8 and 16.)		mondo.json	AML, t(8;16)	http://purl.obolibrary.org/obo/MONDO_0100393		
GO:0008119	biolink:NamedThing	thiopurine S-methyltransferase activity	Catalysis of the reaction: S-adenosyl-L-methionine + a thiopurine = S-adenosyl-L-homocysteine + a thiopurine S-methylether.		mondo.json	TPMT|mercaptopurine methyltransferase activity|S-adenosyl-L-methionine:thiopurine S-methyltransferase activity|thiopurine methyltransferase activity|6-thiopurine transmethylase activity	http://purl.obolibrary.org/obo/GO_0008119		
MONDO:0100394	biolink:Disease	acute myeloid leukemia, t(1;22)	Any acute myeloid leukemia that has the chromosomal anomaly t(1;22). (A cytogenetic abnormality that involves a translocation between chromosomes 1 and 22.)		mondo.json	AML, t(1;22)	http://purl.obolibrary.org/obo/MONDO_0100394		
MONDO:0100395	biolink:Disease	acute myeloid leukemia, t(5;11)(q35;p15)	Any acute myeloid leukemia that has the chromosomal anomaly t(5;11)(q35;p15). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 5q35. It results in the formation of NUP98/NSD1 fusion gene. It is associated with the development of acute myeloid leukemia with t(5;11)(q35;p15); NUP98-NSD1.)	NCIT:C131502	mondo.json	AML, t(5;11)(q35;p15)	http://purl.obolibrary.org/obo/MONDO_0100395	NCIT:C131502	
MONDO:0100396	biolink:Disease	acute myeloid leukemia, t(7;12)(q36;p13)	Any acute myeloid leukemia that has the chromosomal anomaly t(7;12)(q36;p13). (A chromosomal translocation involving the ETV6 gene on chromosome 12p13 and HLXB9 gene on chromosome 7q36.)	NCIT:C122690	mondo.json	AML, t(7;12)(q36;p13)	http://purl.obolibrary.org/obo/MONDO_0100396	NCIT:C122690	
MONDO:0100397	biolink:Disease	acute myeloid leukemia, t(9;22)(q34.1;q11.2)	Any acute myeloid leukemia that has the chromosomal anomaly t(9;22)(q34.1;q11.2). (A translocation between chromosomes 9 and 22 that is associated with the Philadelphia chromosome.)		mondo.json	AML, t(9;22)(q34;q11)|AML, t(9;22)(q34;q11.2)|AML, t(9;22)(q34.1;q11.2)	http://purl.obolibrary.org/obo/MONDO_0100397		
MONDO:0100398	biolink:Disease	acute myeloid leukemia, inv(3)(q21.3;q26.2)	Any acute myeloid leukemia that has the chromosomal anomaly inv(3)(q21.3;q26.2). (A cytogenetic abnormality that refers to a paracentric inversion involving breakpoints on the long (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)	NCIT:C122716	mondo.json	AML, inv(3)(q21.3q26.2)|AML, inv(3)(q21.3;q26.2)|AML, inv(3)(q21q26.2)	http://purl.obolibrary.org/obo/MONDO_0100398	NCIT:C122716	
MONDO:0100399	biolink:Disease	acute myeloid leukemia, t(3;3)(q21.3;q26.2)	Any acute myeloid leukemia that has the chromosomal anomaly t(3;3)(q21.3;q26.2). (A cytogenetic abnormality that refers to the translocation where both breakpoints are on the long arm (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)	NCIT:C122717	mondo.json	AML, t(3;3)(q21.3;q26.2)|AML, t(3;3)(q21.3q26.2)|AML, t(3;3)(q26;q21)|AML, t(3;3)(q21;q26.2)	http://purl.obolibrary.org/obo/MONDO_0100399	NCIT:C122717	
HGNC:16369	biolink:NamedThing	PARK7			mondo.json		http://identifiers.org/hgnc/16369		
MONDO:0028569	biolink:Disease	obsolete genetic interstitial lung disease		Orphanet:264992	mondo.json		http://purl.obolibrary.org/obo/MONDO_0028569	Orphanet:264992	
MONDO:0004599	biolink:Disease	barbiturate abuse	A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences.	SCTID:231462006|ICD9:305.43|DOID:8519	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004599	DOID:8519|http://identifiers.org/snomedct/231462006	
MONDO:0004598	biolink:Disease	acute cor pulmonale	A form of acute right heart failure produced by a sudden increase in resistance to blood flow in the pulmonary circulation.	UMLS:C0155672|SCTID:49584005|UMLS:C0155671|ICD9:415.0|DOID:8517|SCTID:67189007|DOID:8514|ICD9:415	mondo.json	acute pulmonary heart disease|cor pulmonale, acute	http://purl.obolibrary.org/obo/MONDO_0004598	http://identifiers.org/snomedct/49584005|DOID:8514|DOID:8517|http://identifiers.org/snomedct/67189007|UMLS:C0155671|UMLS:C0155672	
MONDO:0004595	biolink:Disease	obsolete acute pulmonary heart disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004595		
MONDO:0004594	biolink:Disease	puerperal pulmonary embolism		ICD9:673|ICD9:673.81|ICD9:673.80|SCTID:200284000|DOID:8512	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004594	DOID:8512|http://identifiers.org/snomedct/200284000	
HGNC:28434	biolink:NamedThing	CCNQ			mondo.json		http://identifiers.org/hgnc/28434		
MONDO:0004597	biolink:Disease	pulmonary embolism and infarction	Localized necrosis of lung tissue caused by obstruction of the arterial blood supply, most often due to pulmonary embolism.	SCTID:64662007|DOID:8516|NCIT:C50714|ICD9:415.19|ICD9:415.1|MESH:D054060|EFO:1001408	mondo.json	infarction, pulmonary|lung infarction|pulmonary infarction	http://purl.obolibrary.org/obo/MONDO_0004597	DOID:8516|http://identifiers.org/snomedct/64662007|http://identifiers.org/mesh/D054060|NCIT:C50714	
MONDO:0004596	biolink:Disease	cor pulmonale	Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism.	MESH:D011660|SCTID:274096000|UMLS:C0034072|DOID:8515|ICD10CM:I27.81	mondo.json	cardiopulmonary disease|cor pulmonale|pulmonary heart disease|pulmonary heart diseases|heart diseases, pulmonary|diseases, pulmonary heart|heart disease, pulmonary|disease, pulmonary heart	http://purl.obolibrary.org/obo/MONDO_0004596	http://purl.bioontology.org/ontology/ICD10CM/I27.81|DOID:8515|http://identifiers.org/snomedct/274096000|http://identifiers.org/mesh/D011660|UMLS:C0034072	
MONDO:0004591	biolink:Disease	impetigo herpetiformis	An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy.	SCTID:65539006|ICD9:694.3|DOID:8503|UMLS:C1314968|EFO:1000715	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004591	http://identifiers.org/snomedct/65539006|UMLS:C1314968|DOID:8503	
MONDO:0004590	biolink:Disease	obsolete fundus dystrophy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004590		
MONDO:0004593	biolink:Disease	Bartholin duct cyst	Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice.	UMLS:C0004767|ICD10CM:N75.0|ICD9:616.2|SCTID:57044006|DOID:851	mondo.json	Bartholin's cyst|cyst of Bartholin's gland duct|Bartholin's duct cyst|cyst of Bartholin's gland	http://purl.obolibrary.org/obo/MONDO_0004593	UMLS:C0004767|http://identifiers.org/snomedct/57044006|http://purl.bioontology.org/ontology/ICD10CM/N75.0|DOID:851	
MONDO:0004592	biolink:Disease	impetigo	A contagious bacterial cutaneous infection that affects children and is usually caused by Staphylococcus aureus. It usually presents in the face with honey colored scabs.	NCIT:C99088|ICD10CM:L01|MESH:D007169|SCTID:48277006|DOID:8504|UMLS:C0021099|ICD9:684|EFO:1000714	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004592	DOID:8504|http://identifiers.org/snomedct/48277006|http://identifiers.org/mesh/D007169|NCIT:C99088|http://purl.bioontology.org/ontology/ICD10CM/L01|UMLS:C0021099	
GO:0033085	biolink:NamedThing	negative regulation of T cell differentiation in thymus	Any process that stops, prevents, or reduces the frequency, rate or extent of T cell differentiation in the thymus.		mondo.json	negative regulation of thymocyte cell differentiation|negative regulation of thymocyte differentiation|negative regulation of T cell development in thymus|negative regulation of thymic T cell differentiation	http://purl.obolibrary.org/obo/GO_0033085		
MONDO:0016588	biolink:Disease	infantile mercury poisoning	Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia.	Orphanet:247165|SCTID:66695004|UMLS:CN201782|MESH:D000170	mondo.json	infantile mercury intoxication|pink disease|Swift-Feer disease|Swift disease|infantile acrodynia|Feer disease|erythroedema polyneuritis	http://purl.obolibrary.org/obo/MONDO_0016588	http://identifiers.org/snomedct/66695004|http://identifiers.org/mesh/D000170|UMLS:CN201782|Orphanet:247165	ordo_disease
MONDO:0016589	biolink:Disease	progressive cerebello-cerebral atrophy		Orphanet:247198	mondo.json	PCCA	http://purl.obolibrary.org/obo/MONDO_0016589	Orphanet:247198	ordo_disease
GO:0033081	biolink:NamedThing	regulation of T cell differentiation in thymus	Any process that modulates the frequency, rate or extent of T cell differentiation in the thymus.		mondo.json	regulation of thymocyte cell differentiation|regulation of T cell development in thymus|regulation of thymocyte differentiation|regulation of thymic T cell differentiation	http://purl.obolibrary.org/obo/GO_0033081		
MONDO:0041535	biolink:Disease	mesenteric lymphadenitis due to Yersinia infection	An mesenteric lymphadenitis caused by infection with Yersinia pseudotuberculosis.	SCTID:13272007|UMLS:C0275758	mondo.json	mesenteric lymphadenitis due to Yersinia pseudotuberculosis|Yersinia pseudotuberculosis caused mesenteric lymphadenitis|Yersinia pseudotuberculosis mesenteric lymphadenitis|lymphadenitis mesenterialis Masshoff|Masshoff's syndrome	http://purl.obolibrary.org/obo/MONDO_0041535	http://identifiers.org/snomedct/13272007|UMLS:C0275758	
MONDO:0041536	biolink:Disease	Far-East scarlet-like fever	A severe inflammatory disease that occurs sporadically and in outbreaks in Russia and Japan, caused by Yersinia pseudotubuclosis infection, an organism that typically causes self-limiting gastroenteritis in Europe.	SCTID:47277009|UMLS:C0277513	mondo.json	FESLF|Izumi fever	http://purl.obolibrary.org/obo/MONDO_0041536	http://identifiers.org/snomedct/47277009|UMLS:C0277513	
MONDO:0016584	biolink:Disease	mandibuloacral dysplasia	Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.	OMIMPS:248370|UMLS:CN118835|Orphanet:2457|GARD:0011893	mondo.json	mandibuloacral dysplasia with lipodystrophy|MAD	http://purl.obolibrary.org/obo/MONDO_0016584	Orphanet:2457|UMLS:CN118835|https://omim.org/phenotypicSeries/PS248370	ordo_malformation_syndrome
MONDO:0016585	biolink:Disease	obsolete mansonelliasis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016585		
MONDO:0016586	biolink:Disease	systemic mastocytosis	Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement.	ONCOTREE:SM|SCTID:397016004|NCIT:C9235|Orphanet:2467|GARD:0008616|DOID:349|MedDRA:10042949|UMLS:C0221013	mondo.json	SMCD - systemic mast cell disease|systemic tissue mast cell disease|systemic tissue Mast cell disease|Agressive systemic mastocytosis|systemic mastocytosis|systemic mastocytosis with associated hemotologic non-mast cell lineage disease (SM-AHNMD)|Mast cell disease|systemic mast cell disease|SM	http://purl.obolibrary.org/obo/MONDO_0016586	Orphanet:2467|http://identifiers.org/snomedct/397016004|NCIT:C9235|DOID:349|UMLS:C0221013	disease_grouping|ordo_group_of_disorders
MONDO:0016587	biolink:Disease	arrhythmogenic right ventricular cardiomyopathy	Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.	MESH:D019571|UMLS:C0349788|SCTID:281170005|ICD9:425.4|NCIT:C84571|MedDRA:10058093|UMLS:CN221565|GARD:0005847|Orphanet:247|DOID:0050431|UMLS:CN239850	mondo.json	ARVC cardiomyopathy|right ventricular dysplasia|arrhythmogenic right ventricular dysplasia/cardiomyopathy|ARVC|arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic right ventricular dysplasia|arrhythmogenic RVD|ARVD	http://purl.obolibrary.org/obo/MONDO_0016587	UMLS:CN221565|NCIT:C84571|http://identifiers.org/snomedct/281170005|UMLS:CN239850|Orphanet:247|DOID:0050431|http://identifiers.org/mesh/D019571|UMLS:C0349788	gard_rare|clingen|ordo_group_of_disorders|disease_grouping
MONDO:0016580	biolink:Disease	congenital pulmonary airway malformation	An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal bronchioles with a consequent reduction of pulmonary alveoli. This anomaly is classified into three types by the cyst size.	NCIT:C98892|Orphanet:2444|SCTID:111318005|GARD:0006232|MESH:D015615	mondo.json	congenital cystic adenomatous malformation of the lung|congenital cystic adenomatoid malformation of lung|congenital cystic disease of the lung|congenital cystic adenomatoid malformation|CCAM|CPAM|cystic adenomatoid malformation of lung|congenital cystic adenomatoid malformation of the lung	http://purl.obolibrary.org/obo/MONDO_0016580	http://identifiers.org/mesh/D015615|Orphanet:2444|http://identifiers.org/snomedct/111318005|NCIT:C98892	ordo_malformation_syndrome
MONDO:0016581	biolink:Disease	conotruncal heart malformations	Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).	GARD:0008189|ICD9:747.11|SCTID:218728005|Orphanet:2445|UMLS:C1857586|OMIM:217095	mondo.json	Double-outlet right ventricle|CTHM|conotruncal anomaly face syndrome|Taussig-Bing syndrome or defect|interrupted aortic Arch|truncus arteriosus communis|conotruncal heart malformations, variable|persistent truncus arteriosus|conotruncal heart malformations|conotruncal cardiac defects	http://purl.obolibrary.org/obo/MONDO_0016581	Orphanet:2445|UMLS:C1857586|http://identifiers.org/snomedct/218728005|https://omim.org/entry/217095	disease_grouping|ordo_group_of_disorders
GO:0033089	biolink:NamedThing	positive regulation of T cell differentiation in thymus	Any process that activates or increases the frequency, rate or extent of T cell differentiation in the thymus.		mondo.json	positive regulation of T cell development in thymus|positive regulation of thymocyte differentiation|positive regulation of thymic T cell differentiation|positive regulation of thymocyte cell differentiation	http://purl.obolibrary.org/obo/GO_0033089		
MONDO:0016582	biolink:Disease	congenital mitral malformation		Orphanet:2447|GARD:0001495	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016582	Orphanet:2447	gard_rare|disease_grouping|ordo_group_of_disorders
MONDO:0016583	biolink:Disease	familial intestinal malrotation-facial anomalies syndrome		GARD:0005000|Orphanet:2454	mondo.json	Stalker-Chitayat syndrome|Stalker Chitayat syndrome|intestinal malrotation facial anomalies familial type	http://purl.obolibrary.org/obo/MONDO_0016583	Orphanet:2454	ordo_malformation_syndrome
GO:0045087	biolink:NamedThing	innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.		mondo.json	nonspecific immune response|innate immunity	http://purl.obolibrary.org/obo/GO_0045087		
NCIT:C35867	biolink:NamedThing	Morphologic Finding			mondo.json		http://purl.obolibrary.org/obo/NCIT_C35867		http://purl.obolibrary.org/obo/NCIT_C166372|http://purl.obolibrary.org/obo/NCIT_C166371|http://purl.obolibrary.org/obo/NCIT_C165451
PATO:0001908	biolink:NamedThing	multinucleate	A nucleate quality inhering in a bearer by virtue of the bearer's having more than one nucleus.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001908		
GO:0045088	biolink:NamedThing	regulation of innate immune response	Any process that modulates the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection.		mondo.json		http://purl.obolibrary.org/obo/GO_0045088		
GO:0045089	biolink:NamedThing	positive regulation of innate immune response	Any process that activates or increases the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection.		mondo.json	stimulation of innate immune response|up-regulation of innate immune response|upregulation of innate immune response|up regulation of innate immune response	http://purl.obolibrary.org/obo/GO_0045089		
MONDO:0016577	biolink:Disease	biliary atresia with splenic malformation syndrome	Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen.	Orphanet:244283|UMLS:CN201730|UMLS:C4274029|SCTID:717156002	mondo.json	BASM syndrome	http://purl.obolibrary.org/obo/MONDO_0016577	UMLS:C4274029|http://identifiers.org/snomedct/717156002|Orphanet:244283|UMLS:CN201730	ordo_malformation_syndrome
MONDO:0016578	biolink:Disease	obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	OBSOLETE. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis.	UMLS:CN201731|Orphanet:2443	mondo.json	mitochondrial oxidative phosphorylation disorder due to nDNA anomalies|OXPHOS disease due to nDNA anomalies|OXPHOS disease due to nuclear DNA anomalies	http://purl.obolibrary.org/obo/MONDO_0016578	Orphanet:2443|UMLS:CN201731	ordo_group_of_disorders
MONDO:0016579	biolink:Disease	dominant hypophosphatemia with nephrolithiasis or osteoporosis		Orphanet:244305|UMLS:CN228623	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016579	Orphanet:244305|UMLS:CN228623	ordo_disease
NCBITaxon:513040	biolink:OrganismalEntity	Dioctophymatidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_513040		
MONDO:0016573	biolink:Disease	acute fatty liver of pregnancy	Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.	SCTID:716379000|MedDRA:10000746|MESH:C537957|Orphanet:243367|UMLS:C1455728|GARD:0009578	mondo.json	AFLP|acute fatty liver, gestational	http://purl.obolibrary.org/obo/MONDO_0016573	http://identifiers.org/snomedct/716379000|UMLS:C1455728|Orphanet:243367|http://identifiers.org/mesh/C537957	gard_rare|ordo_disease
HGNC:16466	biolink:NamedThing	SUFU			mondo.json		http://identifiers.org/hgnc/16466		
MONDO:0016574	biolink:Disease	hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome	Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterised by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit.	OMIM:154000|Orphanet:2435|SCTID:733469003|MESH:C537836|GARD:0003347|UMLS:C1835172	mondo.json	hereditary congenital hypopigmented and hyperpigmented macules|macules hereditary congenital hypopigmented and hyperpigmented|Westerhof-Beemer-Cormane syndrome|congenital hypomelanotic and hypermelanotic macules|macules, hereditary congenital hypopigmented and hyperpigmented|Westerhof Beemer Cormane syndrome	http://purl.obolibrary.org/obo/MONDO_0016574	Orphanet:2435|http://identifiers.org/mesh/C537836|http://identifiers.org/snomedct/733469003|UMLS:C1835172	gard_rare|ordo_disease
NCBITaxon:513042	biolink:OrganismalEntity	Dioctophyme		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_513042		
MONDO:0016575	biolink:Disease	primary ciliary dyskinesia	A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).	MESH:D007619|GARD:0004484|SCTID:86204009|MESH:D002925|DOID:9562|UMLS:C0008780|SCTID:42402006|Orphanet:244|MedDRA:10069713|GARD:0006815|DOID:0050144|OMIMPS:244400|NCIT:C84797	mondo.json	PCD|Immotile cilia syndrome, Kartagener type|Primary ciliary dyskinesia, Kartagener type|Kartagener syndrome|ciliary dyskinesia primary|Primary ciliary dyskinesia and situs inversus|Dextrocardia bronchiectasis and sinusitis|ciliary motility disorder|bronchiectasis, chronic sinusitis and dextrocardia syndrome|Dextrocardia-bronchiectasis-sinusitis syndrome|immotile ciliary syndrome|Siewert syndrome|Kartagener's syndrome|ICS	http://purl.obolibrary.org/obo/MONDO_0016575	DOID:9562|http://identifiers.org/snomedct/42402006|NCIT:C84797|https://omim.org/phenotypicSeries/PS244400|http://identifiers.org/mesh/D002925|http://identifiers.org/snomedct/86204009|DOID:0050144|Orphanet:244|UMLS:C0008780|http://identifiers.org/mesh/D007619	ordo_disease
NCBITaxon:513045	biolink:OrganismalEntity	Dioctophyme renale		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_513045		
MONDO:0016576	biolink:Disease	split hand-foot malformation	Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.	SCTID:81208006|NCIT:C75000|GARD:0006319|Orphanet:2440|DOID:0090020|OMIMPS:183600|UMLS:C0265554	mondo.json	split-hand deformity|FEWER digits|split hand-split foot malformation|SHFM|split-hand/foot malformation|ectrodactyly|lobster-claw deformity|split hand foot malformation|isolated split hand-split foot malformation	http://purl.obolibrary.org/obo/MONDO_0016576	https://omim.org/phenotypicSeries/PS183600|Orphanet:2440|NCIT:C75000|UMLS:C0265554|http://identifiers.org/snomedct/81208006|DOID:0090020	ordo_malformation_syndrome
MONDO:0016570	biolink:Disease	primary pulmonary lymphoma	Primary pulmonary lymphoma (PPL) is a rare lymphoma of the lung, defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG).	MedDRA:10037418|SCTID:718200007|UMLS:C0519063|UMLS:C4273669|Orphanet:2420	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016570	Orphanet:2420|UMLS:C4273669|UMLS:C0519063|http://identifiers.org/snomedct/718200007	ordo_disease
UBERON:0037191	biolink:AnatomicalEntity	wall of membranous labyrinth			mondo.json		http://purl.obolibrary.org/obo/UBERON_0037191		
GO:0033077	biolink:NamedThing	T cell differentiation in thymus	The process in which a precursor cell type acquires the specialized features of a T cell via a differentiation pathway dependent upon transit through the thymus.		mondo.json	thymic T cell differentiation|thymocyte cell differentiation|T cell development in thymus|thymocyte differentiation	http://purl.obolibrary.org/obo/GO_0033077		
MONDO:0016571	biolink:Disease	macrocephaly-short stature-paraplegia syndrome	Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults.	SCTID:722033000|MESH:C537718|Orphanet:2427	mondo.json	Volcke-Soekarman syndrome	http://purl.obolibrary.org/obo/MONDO_0016571	Orphanet:2427|http://identifiers.org/snomedct/722033000|http://identifiers.org/mesh/C537718	ordo_malformation_syndrome
MONDO:0016572	biolink:Disease	central bilateral macrogyria	Central bilateral macrogyria is a neuronal migration disorder characterised by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children.	SCTID:720632004|UMLS:C4303949|Orphanet:2431	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016572	Orphanet:2431|UMLS:C4303949|http://identifiers.org/snomedct/720632004	ordo_disease
GO:0045095	biolink:NamedThing	keratin filament	A filament composed of acidic and basic keratins (types I and II), typically expressed in epithelial cells. The keratins are the most diverse classes of IF proteins, with a large number of keratin isoforms being expressed. Each type of epithelium always expresses a characteristic combination of type I and type II keratins.		mondo.json	acidic keratin|basic/neutral keratin	http://purl.obolibrary.org/obo/GO_0045095		
OBO:MAXO_0000002	biolink:NamedThing	therapeutic procedure	All manners of treatment, be they pharmaceuticals, invasive procedures, etc. to relieve illness and injury in attempts to bring the body back to its normal state.		mondo.json	medical procedure|treatment|clinical procedure	http://purl.obolibrary.org/obo/MAXO_0000002		
MONDO:0004577	biolink:Disease	corneal ulcer	Area of epithelial tissue loss from corneal surface; associated with inflammatory cells in the cornea and anterior chamber.	MESH:D003320|NCIT:C50515|ICD9:370.00|ICD9:370.0|DOID:8463|UMLS:C0010043|HP:0200020|SCTID:91514001|ICD10CM:H16.0	mondo.json	Ulcer, corneal|cornea ulcer disease|ulcer disease of cornea	http://purl.obolibrary.org/obo/MONDO_0004577	http://identifiers.org/snomedct/91514001|DOID:8463|http://identifiers.org/mesh/D003320|http://purl.bioontology.org/ontology/ICD10CM/H16.0|NCIT:C50515|UMLS:C0010043	
UBERON:0013191	biolink:AnatomicalEntity	ovarian cortex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013191		
MONDO:0004576	biolink:Disease	obsolete pellagra			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004576		
UBERON:0013192	biolink:AnatomicalEntity	ovarian medulla			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013192		
MONDO:0004579	biolink:Disease	retinoschisis	An inherited or acquired disorder characterized by splitting of the retina into two layers. It results in loss of vision.	UMLS:C0152439|DOID:8465|SCTID:44268007|NCIT:C85046|ICD9:361.10|MESH:D041441	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004579	NCIT:C85046|DOID:8465|UMLS:C0152439|http://identifiers.org/snomedct/44268007|http://identifiers.org/mesh/D041441	
OBO:MAXO_0000001	biolink:NamedThing	medical action	A clinically prescribed procedure, therapy, intervention, or recommendation.		mondo.json	health care process	http://purl.obolibrary.org/obo/MAXO_0000001		
MONDO:0004578	biolink:Disease	flat retinoschisis		DOID:8464|ICD9:361.11|SCTID:83405000|UMLS:C0154817	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004578	http://identifiers.org/snomedct/83405000|UMLS:C0154817|DOID:8464	
MONDO:0004573	biolink:Disease	ariboflavinosis	A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)	DOID:8454|SCTID:20307000|OMIM:615026|ICD9:266.0	mondo.json	riboflavin deficiency|vitamin B2 deficiency	http://purl.obolibrary.org/obo/MONDO_0004573	DOID:8454|http://identifiers.org/snomedct/20307000|https://omim.org/entry/615026	
MONDO:0004572	biolink:Disease	cyclothymic disorder	An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood.	ICD9:301.1|ICD9:301.10|ICD10CM:F34.0|DOID:845|MESH:D003527|ICD9:301.13|SCTID:76105009	mondo.json	affective personality disorder|cycloid personality|cyclothymic personality|cyclothymia	http://purl.obolibrary.org/obo/MONDO_0004572	http://identifiers.org/mesh/D003527|http://purl.bioontology.org/ontology/ICD10CM/F34.0|DOID:845|http://identifiers.org/snomedct/76105009	
MONDO:0004575	biolink:Disease	choline deficiency disease	A condition produced by a deficiency of choline in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984)	DOID:8456|SCTID:238113006|MESH:D002796|ICD9:266.2|UMLS:C0008412	mondo.json	choline deficiency	http://purl.obolibrary.org/obo/MONDO_0004575	http://identifiers.org/snomedct/238113006|DOID:8456|http://identifiers.org/mesh/D002796|UMLS:C0008412	
MONDO:0004574	biolink:Disease	pyridoxine deficiency anemia	Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia.	MESH:D026681|DOID:8455|NCIT:C85221|GARD:0004616|ICD9:281.8|ICD9:266.1|SCTID:86448001	mondo.json	deficiency, pyridoxine|deficiency, vitamin B6|deficiency, vitamin B 6|vitamin deficiencies, B6|deficiencies, vitamin B6|B6 deficiencies, vitamin|vitamin B6 deficiency|pyridoxine Deficincy|B6 deficiency, vitamin|pyridoxine deficiency|vitamin B6 deficiencies|deficiency, B6 vitamin|B6 vitamin deficiency|B6 vitamin deficiencies|vitamin deficiency, B6|deficiencies, B6 vitamin|vitamin B6 deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0004574	NCIT:C85221|http://identifiers.org/snomedct/86448001|DOID:8455|http://identifiers.org/mesh/D026681	gard_rare
MONDO:0004571	biolink:Disease	intestinal impaction		ICD9:560.30|ICD9:560.39|SCTID:62851005|DOID:8448	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004571	DOID:8448|http://identifiers.org/snomedct/62851005	
PATO:0001910	biolink:NamedThing	folded	A surface feature shape quality inhering in a bearer by virtue of the bearer's one part being layered over another connected part.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001910		
MONDO:0004570	biolink:Disease	intestinal volvulus	Twisting of a loop of bowel that results in intestinal obstruction.	EFO:1000989|UMLS:C0042961|MESH:D045822|ICD10CM:K56.2|SCTID:9707006|ICD9:560.2|DOID:8445	mondo.json	volvulus|intestinal volvulus|twist of intestine, bowel, or colon	http://purl.obolibrary.org/obo/MONDO_0004570	DOID:8445|http://identifiers.org/snomedct/9707006|http://identifiers.org/mesh/D045822|http://purl.bioontology.org/ontology/ICD10CM/K56.2|UMLS:C0042961	
MONDO:0016566	biolink:Disease	loiasis	Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis.	GARD:0003283|UMLS:C0023968|ICD10CM:B74.3|Orphanet:2404|NCIT:C34784|MedDRA:10024797|SCTID:44250009|MESH:D008118|ICD9:125.2|DOID:13523|EFO:1000729	mondo.json	Loa loa filariasis|African eye worm	http://purl.obolibrary.org/obo/MONDO_0016566	UMLS:C0023968|http://identifiers.org/snomedct/44250009|Orphanet:2404|http://identifiers.org/mesh/D008118|http://purl.bioontology.org/ontology/ICD10CM/B74.3|NCIT:C34784|DOID:13523	gard_rare|ordo_disease
MONDO:0016567	biolink:Disease	locked-in syndrome	Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking.	MedDRA:10024792|DOID:12697|ICD9:344.81|SCTID:38023001|GARD:0006919|MESH:D011782|Orphanet:2406|MESH:D000080422	mondo.json	Cerebromedullospinal disconnection|locked in syndrome|locked-in state	http://purl.obolibrary.org/obo/MONDO_0016567	DOID:12697|http://identifiers.org/mesh/D000080422|http://identifiers.org/snomedct/38023001|Orphanet:2406	gard_rare|ordo_disease
MONDO:0016568	biolink:Disease	Lowe-Kohn-Cohen syndrome	Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.	GARD:0001695|UMLS:C2931080|Orphanet:2408|SCTID:766249007|OMIM:107100|MESH:C535996	mondo.json	deafness nephritis anorectal malformation|Lowe Kohn Cohen syndrome|deafness-nephritis-ano-rectal malformation syndrome|deafness - nephritis - ano-rectal malformation|dominant ano-rectal malformation, nephritis and nerve-deafness	http://purl.obolibrary.org/obo/MONDO_0016568	http://identifiers.org/mesh/C535996|UMLS:C2931080|http://identifiers.org/snomedct/766249007|Orphanet:2408	gard_rare|ordo_malformation_syndrome
MONDO:0016569	biolink:Disease	obsolete rare lymphatic malformation			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016569		
HGNC:16438	biolink:NamedThing	SLC4A11			mondo.json		http://identifiers.org/hgnc/16438		
MONDO:0016562	biolink:Disease	progressive supranuclear palsy-pure akinesia with gait freezing syndrome	PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.	Orphanet:240094|UMLS:CN226961	mondo.json	PSP-pure akinesia with gait freezing|PSP-PAGF	http://purl.obolibrary.org/obo/MONDO_0016562	UMLS:CN226961|Orphanet:240094	ordo_clinical_subtype
MONDO:0016563	biolink:Disease	progressive supranuclear palsy-corticobasal syndrome	PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.	Orphanet:240103|UMLS:CN201681	mondo.json	PSP-corticobasal syndrome|PSP-CBS	http://purl.obolibrary.org/obo/MONDO_0016563	UMLS:CN201681|Orphanet:240103	ordo_clinical_subtype
MONDO:0016564	biolink:Disease	progressive supranuclear palsy-progressive non-fluent aphasia syndrome	PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP.	Orphanet:240112|UMLS:CN226962	mondo.json	PSP-PNFA|PSP-AOS|progressive supranuclear palsy-apraxia of speech syndrome	http://purl.obolibrary.org/obo/MONDO_0016564	UMLS:CN226962|Orphanet:240112	ordo_clinical_subtype
MONDO:0016565	biolink:Disease	syndromic genetic obesity		UMLS:CN226963|Orphanet:240371	mondo.json	syndrome associated with obesity (disease)|syndromic obesity (disease)	http://purl.obolibrary.org/obo/MONDO_0016565	UMLS:CN226963|Orphanet:240371	ordo_group_of_disorders|disease_grouping
MONDO:0016560	biolink:Disease	ptosis-syndactyly-learning difficulties syndrome		UMLS:CN201643|Orphanet:238766	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016560	UMLS:CN201643|Orphanet:238766	ordo_malformation_syndrome
MONDO:0016561	biolink:Disease	1q44 microdeletion syndrome	1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.	SCTID:719649004|GARD:0010943|UMLS:CN201644|Orphanet:238769|UMLS:C4304540	mondo.json	chromosome 1q44 microdeletion syndrome|Del(1)(q44)|monosomy 1q44	http://purl.obolibrary.org/obo/MONDO_0016561	UMLS:CN201644|UMLS:C4304540|Orphanet:238769|http://identifiers.org/snomedct/719649004	ordo_malformation_syndrome|gard_rare
PATO:0001925	biolink:NamedThing	surface feature shape	A surface shape quality inhering in a bearer by virtue of the bearer's shape of features present on its surface or outer shell.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001925		
MONDO:0004588	biolink:Disease	night blindness	Inability to see clearly in dim light.	DOID:8499|UMLS:C0028077|ICD9:368.60|ICD9:368.6|NCIT:C34850|ICD10CM:H53.6|MESH:D009755|SCTID:65194006|ICD9:368.69	mondo.json	nyctalopia	http://purl.obolibrary.org/obo/MONDO_0004588	DOID:8499|UMLS:C0028077|http://identifiers.org/snomedct/65194006|http://identifiers.org/mesh/D009755|NCIT:C34850|http://purl.bioontology.org/ontology/ICD10CM/H53.6	
NCBITaxon:11974	biolink:OrganismalEntity	Caliciviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_11974		
MONDO:0004587	biolink:Disease	hereditary night blindness	An instance of night blindness that is caused by an inherited modification of the individual's genome.	DOID:8498|SCTID:193687000|ICD9:368.61|MESH:C537743	mondo.json	Oguchi's disease|congenital night blindness|hereditary night blindness	http://purl.obolibrary.org/obo/MONDO_0004587	DOID:8498|http://identifiers.org/snomedct/193687000	
NCIT:C35886	biolink:NamedThing	Morphologic Architectural Pattern			mondo.json		http://purl.obolibrary.org/obo/NCIT_C35886		
MONDO:0004589	biolink:Disease	obsolete hereditary retinal dystrophy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004589		
MONDO:0004584	biolink:Disease	maple bark strippers' lung		DOID:8484|ICD9:495.6|UMLS:C0155890|SCTID:86638007	mondo.json	maple bark disease|maple bark stripper's disease|alveolitis due to cryptostroma corticale|maple-bark strippers' lung|maple bark-strippers' lung|maple bark stripper's lung	http://purl.obolibrary.org/obo/MONDO_0004584	UMLS:C0155890|DOID:8484|http://identifiers.org/snomedct/86638007	
HGNC:28422	biolink:NamedThing	TSEN2			mondo.json		http://identifiers.org/hgnc/28422		
MONDO:0004583	biolink:Disease	transient retinal arterial occlusion	A partial, temporary occlusion of the retinal artery.	NCIT:C35193|DOID:8482|UMLS:C0154840|SCTID:87224000|ICD9:362.34	mondo.json	transient retinal arterial occlusion|transient arterial retinal occlusion|retinal transient arterial occlusion	http://purl.obolibrary.org/obo/MONDO_0004583	UMLS:C0154840|DOID:8482|http://identifiers.org/snomedct/87224000|NCIT:C35193	
HGNC:28423	biolink:NamedThing	STAC3			mondo.json		http://identifiers.org/hgnc/28423		
MONDO:0004586	biolink:Disease	rheumatoid lung disease	Rheumatoid lung disease is a group of lung problems related to rheumatoid arthritis.	ICD9:714.81|DOID:849|SCTID:398726004|UMLS:C0994344	mondo.json	rheumatoid lung	http://purl.obolibrary.org/obo/MONDO_0004586	UMLS:C0994344|http://identifiers.org/snomedct/398726004|DOID:849	
MONDO:0004585	biolink:Disease	polyhydramnios	An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm.	DOID:8488|HP:0001561|ICD9:657.00|ICD9:657.0|SCTID:86203003|MESH:D006831|ICD9:657	mondo.json	polyhydramnios|polyhydramnios (disease)	http://purl.obolibrary.org/obo/MONDO_0004585	http://identifiers.org/mesh/D006831|DOID:8488|http://identifiers.org/snomedct/86203003	
MONDO:0004580	biolink:Disease	retinal degeneration	Degeneration of the retina.	SCTID:95695004|MESH:D012162|NCIT:C34979|DOID:8466	mondo.json	retina degeneration|retina, Degeneration Of|degeneration of retina	http://purl.obolibrary.org/obo/MONDO_0004580	DOID:8466|http://identifiers.org/mesh/D012162|NCIT:C34979|http://identifiers.org/snomedct/95695004	
MONDO:0004582	biolink:Disease	rheumatic myocarditis	Inflammation of the myocardium in acute rheumatic heart disease.	UMLS:C0155557|ICD9:391.9|SCTID:195136004|DOID:8481|NCIT:C35202|ICD9:398.0	mondo.json	active rheumatic fever with myocarditis|acute rheumatic myocarditis (disorder) [ambiguous]|acute rheumatic carditis|acute rheumatic myocarditis|rheumatic degeneration of myocardium|rheumatoid myocarditis|rheumatic fever with myocarditis|rheumatic myocarditis	http://purl.obolibrary.org/obo/MONDO_0004582	DOID:8481|http://identifiers.org/snomedct/195136004|NCIT:C35202|UMLS:C0155557	
MONDO:0004581	biolink:Disease	obsolete localized scleroderma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004581		
MONDO:0016559	biolink:Disease	glaucoma secondary to spherophakia/ectopia lentis and megalocornea	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.	Orphanet:238763|GARD:0010942|UMLS:CN201642	mondo.json	megalocornea-spherophakia-secondary glaucoma syndrome	http://purl.obolibrary.org/obo/MONDO_0016559	Orphanet:238763|UMLS:CN201642	ordo_malformation_syndrome
MONDO:0016555	biolink:Disease	transient congenital hypothyroidism due to maternal factor		Orphanet:238696	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016555	Orphanet:238696	ordo_group_of_disorders|disease_grouping
MONDO:0016556	biolink:Disease	transient congenital hypothyroidism due to neonatal factor		Orphanet:238699	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016556	Orphanet:238699	ordo_group_of_disorders|disease_grouping
MONDO:0016557	biolink:Disease	leukonychia totalis	Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present.	GARD:0009759|Orphanet:2387|SCTID:763792009|OMIM:151600|MESH:C535889	mondo.json	hereditary white nails|total leukonychia	http://purl.obolibrary.org/obo/MONDO_0016557	http://identifiers.org/mesh/C535889|http://identifiers.org/snomedct/763792009|Orphanet:2387	ordo_disease
MONDO:0016558	biolink:Disease	familial congenital mirror movements	Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected.	GARD:0012551|SCTID:229247004|Orphanet:238722|DOID:0111153|OMIMPS:157600	mondo.json	bimanual synkinesis|isolated congenital controlateral synkinesia|hereditary congenital controlateral synkinesia|congenital mirror movements|hereditary congenital mirror movements|isolated congenital mirror movements|congenital mirror movement disorder|CMM|familial congenital mirror movements|familial congenital controlateral synkinesia	http://purl.obolibrary.org/obo/MONDO_0016558	http://identifiers.org/snomedct/229247004|https://omim.org/phenotypicSeries/PS157600|DOID:0111153|Orphanet:238722	ordo_disease
MONDO:0016551	biolink:Disease	congenital primary megaureter, refluxing form		Orphanet:238650	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016551	Orphanet:238650	ordo_clinical_subtype
MONDO:0016552	biolink:Disease	congenital primary megaureter, nonrefluxing and unobstructed form		Orphanet:238654	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016552	Orphanet:238654	ordo_clinical_subtype
MONDO:0016553	biolink:Disease	isolated congenital hypogonadotropic hypogonadism	A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome.	Orphanet:238666|ICD10CM:E23.0|UMLS:CN924907	mondo.json	nonsyndromic congenital hypogonadotropic hypogonadism	http://purl.obolibrary.org/obo/MONDO_0016553	UMLS:CN924907|Orphanet:238666	ordo_group_of_disorders|disease_grouping
GO:0033059	biolink:NamedThing	cellular pigmentation	The deposition or aggregation of coloring matter in a cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0033059		
HGNC:16446	biolink:NamedThing	CARD14			mondo.json		http://identifiers.org/hgnc/16446		
MONDO:0016554	biolink:Disease	neonatal iodine exposure	A rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates.	GARD:0003025|Orphanet:238688|UMLS:CN226956	mondo.json	iodine antenatal exposure	http://purl.obolibrary.org/obo/MONDO_0016554	UMLS:CN226956|Orphanet:238688	ordo_disease
MONDO:0016550	biolink:Disease	congenital primary megaureter, obstructed form		Orphanet:238646	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016550	Orphanet:238646	ordo_clinical_subtype
GO:0070075	biolink:NamedThing	tear secretion	The regulated release of the aqueous layer of the tear film from the lacrimal glands. Tears are the liquid product of a process of lacrimation to clean and lubricate the eyes. Tear fluid contains water, mucin, lipids, lysozyme, lactoferrin, lipocalin, lacritin, immunoglobulins, glucose, urea, sodium, and potassium.		mondo.json		http://purl.obolibrary.org/obo/GO_0070075		
UBERON:0037144	biolink:AnatomicalEntity	wall of heart			mondo.json		http://purl.obolibrary.org/obo/UBERON_0037144		
GO:0033048	biolink:NamedThing	negative regulation of mitotic sister chromatid segregation	Any process that stops, prevents, or reduces the frequency, rate or extent of sister chromatid segregation during mitosis.		mondo.json		http://purl.obolibrary.org/obo/GO_0033048		
GO:0033047	biolink:NamedThing	regulation of mitotic sister chromatid segregation	Any process that modulates the frequency, rate or extent of sister chromatid segregation during mitosis.		mondo.json		http://purl.obolibrary.org/obo/GO_0033047		
HGNC:16412	biolink:NamedThing	NLRC4			mondo.json		http://identifiers.org/hgnc/16412		
GO:0033046	biolink:NamedThing	negative regulation of sister chromatid segregation	Any process that stops, prevents, or reduces the frequency, rate or extent of sister chromatid segregation.		mondo.json		http://purl.obolibrary.org/obo/GO_0033046		
GO:0033045	biolink:NamedThing	regulation of sister chromatid segregation	Any process that modulates the frequency, rate or extent of sister chromatid segregation.		mondo.json		http://purl.obolibrary.org/obo/GO_0033045		
GO:0033044	biolink:NamedThing	regulation of chromosome organization	Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a chromosome.		mondo.json	regulation of chromosome organisation|regulation of chromosome organization and biogenesis	http://purl.obolibrary.org/obo/GO_0033044		
GO:0033043	biolink:NamedThing	regulation of organelle organization	Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle.		mondo.json	regulation of organelle organization and biogenesis|regulation of organelle organisation	http://purl.obolibrary.org/obo/GO_0033043		
GO:0070063	biolink:NamedThing	RNA polymerase binding	Binding to an RNA polymerase molecule or complex.		mondo.json		http://purl.obolibrary.org/obo/GO_0070063		
HGNC:28403	biolink:NamedThing	TRMT10A			mondo.json		http://identifiers.org/hgnc/28403		
HGNC:16429	biolink:NamedThing	LIAS			mondo.json		http://identifiers.org/hgnc/16429		
GO:0033036	biolink:NamedThing	macromolecule localization	Any process in which a macromolecule is transported to, or maintained in, a specific location.		mondo.json	macromolecule localisation	http://purl.obolibrary.org/obo/GO_0033036		
GO:0070069	biolink:NamedThing	cytochrome complex	A protein complex in which at least one of the proteins is a cytochrome, i.e. a heme-containing protein involved in catalysis of redox reactions.		mondo.json		http://purl.obolibrary.org/obo/GO_0070069		
GO:0070093	biolink:NamedThing	negative regulation of glucagon secretion	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of glucagon.		mondo.json	down-regulation of glucagon secretion|downregulation of glucagon secretion|down regulation of glucagon secretion|inhibition of glucagon secretion	http://purl.obolibrary.org/obo/GO_0070093		
GO:0070094	biolink:NamedThing	positive regulation of glucagon secretion	Any process that activates or increases the frequency, rate or extent of the regulated release of glucagon.		mondo.json	upregulation of glucagon secretion|stimulation of glucagon secretion|up regulation of glucagon secretion|activation of glucagon secretion|up-regulation of glucagon secretion	http://purl.obolibrary.org/obo/GO_0070094		
GO:0070091	biolink:NamedThing	glucagon secretion	The regulated release of glucagon from secretory granules in the A (alpha) cells of the pancreas (islets of Langerhans).		mondo.json		http://purl.obolibrary.org/obo/GO_0070091		
GO:0070092	biolink:NamedThing	regulation of glucagon secretion	Any process that modulates the frequency, rate or extent of the regulated release of glucagon.		mondo.json		http://purl.obolibrary.org/obo/GO_0070092		
MONDO:0100304	biolink:Disease	disorder of bile acid aminotransferase	Any peroxisomal single enzyme/protein defect that has its basis in the disruption of bile acid aminotransferase.		mondo.json	disorder of bile acid aminotransferase	http://purl.obolibrary.org/obo/MONDO_0100304		
GO:0008066	biolink:NamedThing	glutamate receptor activity	Combining with glutamate and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.		mondo.json		http://purl.obolibrary.org/obo/GO_0008066		
MONDO:0100305	biolink:Disease	bile acid CoA:amino acid N-acyltransferase deficiency	Any disorder of bile acid aminotransferase in which the cause of the disease is a mutation in the BAAT gene.		mondo.json	BAAT deficiency|bile acid CoA:amino acid N-acyltransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0100305		
NCBITaxon:33317	biolink:OrganismalEntity	Protostomia		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_33317		
CHEBI:131699	biolink:ChemicalSubstance	EC 2.7.7.7 (DNA-directed DNA polymerase) inhibitor	A DNA polymerase inhibitor that interferes with the action of a DNA-directed DNA polymerase (EC 2.7.7.7).		mondo.json	DNA polymerase gamma inhibitor|Taq Pol I inhibitors|Taq DNA polymerase inhibitors|DNA nucleotidyltransferase (DNA-directed) inhibitors|DNA-dependent DNA polymerase inhibitor|sequenase inhibitor|deoxyribonucleic acid polymerase inhibitor|EC 2.7.7.7 inhibitors|Tca DNA polymerase inhibitors|EC 2.7.7.7 (DNA-directed DNA polymerase) inhibitors|DNA duplicase inhibitor|duplicase inhibitors|DNA polymerase alpha inhibitors|deoxyribonucleic polymerase I inhibitor|DNA polymerase II inhibitor|DNA polymerase beta inhibitor|deoxyribonucleic acid duplicase inhibitors|Klenow fragment inhibitors|DNA replicase inhibitor|DNA polymerase inhibitors|deoxyribonucleate nucleotidyltransferase inhibitor|deoxyribonucleate nucleotidyltransferase inhibitors|DNA replicase inhibitors|Klenow fragment inhibitor|DNA polymerase inhibitor|DNA polymerase beta inhibitors|deoxyribonucleic acid duplicase inhibitor|DNA polymerase II inhibitors|deoxyribonucleic polymerase I inhibitors|DNA duplicase inhibitors|Tca DNA polymerase inhibitor|DNA polymerase alpha inhibitor|duplicase inhibitor|EC 2.7.7.7 inhibitor|sequenase inhibitors|deoxyribonucleic acid polymerase inhibitors|DNA-dependent DNA polymerase inhibitors|Taq DNA polymerase inhibitor|DNA polymerase gamma inhibitors|Taq Pol I inhibitor|DNA nucleotidyltransferase (DNA-directed) inhibitor|DNA nucleotidyltransferase inhibitor|deoxynucleate polymerase inhibitor|deoxyribonucleic polymerase inhibitor|DNA-directed DNA polymerase (EC 2.7.7.7) inhibitors|DNA polymerase III inhibitors|deoxyribonucleic duplicase inhibitor|DNA polymerase I inhibitors|deoxynucleoside-triphosphate:DNA deoxynucleotidyltransferase (DNA-directed) inhibitors|DNA polymerase I inhibitor|deoxyribonucleic duplicase inhibitors|deoxynucleoside-triphosphate:DNA deoxynucleotidyltransferase (DNA-directed) inhibitor|DNA polymerase III inhibitor|deoxyribonucleic polymerase inhibitors|DNA nucleotidyltransferase inhibitors|DNA-directed DNA polymerase (EC 2.7.7.7) inhibitor|deoxynucleate polymerase inhibitors	http://purl.obolibrary.org/obo/CHEBI_131699		
GO:0070085	biolink:NamedThing	glycosylation	The covalent attachment and further modification of carbohydrate residues to a substrate molecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0070085		
MONDO:0016590	biolink:Disease	obsolete collecting duct carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016590		
MONDO:0100310	biolink:Disease	hereditary cerebellar ataxia	Cerebellar ataxia that is transmitted from parent to child.	NCIT:C140268	mondo.json	hereditary cerebellar ataxia|cerebellar hereditary ataxia	http://purl.obolibrary.org/obo/MONDO_0100310	NCIT:C140268	
MONDO:0100311	biolink:Disease	sensory ataxia	Any ataxia in which the causes of the disease is a perturbation of the sensory system, leading to its dysfunction.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100311		
GO:0104004	biolink:NamedThing	cellular response to environmental stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an environmental stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0104004		
MONDO:0100312	biolink:Disease	vestibular ataxia	Any ataxia in which the causes of the disease is a perturbation of the vestibular system, leading to its dysfunction.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100312		
MONDO:0100315	biolink:Disease	isolated adrenal insufficiency	An ABCD1 deficiency that presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly adrenomyeloneuropathy (AMN)) usually develops by middle age.		mondo.json	isolated adrenal insufficiency	http://purl.obolibrary.org/obo/MONDO_0100315		
MONDO:0100316	biolink:Disease	long QT syndrome 1		MedDRA:10039211|NCIT:C85049|OMIM:611820|GARD:0003284|OMIM:613688|SCTID:20852007|OMIM:603830|OMIM:616249|OMIM:600919|OMIM:613695|OMIM:616247|OMIM:611819|OMIM:613485|OMIM:611818|OMIM:613693|OMIM:192500|DOID:0110644|OMIM:612955	mondo.json	long QT syndrome 1, acquired, susceptibility to|long QT syndrome 1|LQT1|long QT syndrome type 1|long QT syndrome 1/2, digenic|ventricular fibrillation with prolonged QT interval	http://purl.obolibrary.org/obo/MONDO_0100316	http://identifiers.org/snomedct/20852007|https://omim.org/entry/192500|NCIT:C85049|DOID:0110644	ordo_clinical_subtype|clingen|prototype_pattern
MONDO:0041526	biolink:Disease	pregnancy disorder with abortive outcome		SCTID:363681007|ICD10CM:O00-O08	mondo.json	pregnancy with abortive outcome	http://purl.obolibrary.org/obo/MONDO_0041526	http://identifiers.org/snomedct/363681007|http://purl.bioontology.org/ontology/ICD10CM/O00-O08	
MONDO:0100306	biolink:Disease	disorder of defective peroxisome oxidative status	Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisome oxidation.		mondo.json	disorder of defective peroxisome oxidative status	http://purl.obolibrary.org/obo/MONDO_0100306		
MONDO:0100307	biolink:Disease	adult Refsum disease due to PEX7 defect	An adult Refsum disease in which the cause of the disease is a mutation in the PEX7 gene.		mondo.json	adult Refsum disease due to PEX7 defect	http://purl.obolibrary.org/obo/MONDO_0100307		
MONDO:0100308	biolink:Disease	atactic disorder	A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement.		mondo.json	ataxic disorder|ataxia	http://purl.obolibrary.org/obo/MONDO_0100308		
MONDO:0100309	biolink:Disease	hereditary ataxia	An instance of an atactic disorder that is caused by an inherited genomic modification in an individual.	Orphanet:183518|ICD10CM:G11|GARD:0010748|DOID:0050951|SCTID:763597000|MESH:C531684|GARD:0006614	mondo.json	rare hereditary ataxia|SCA	http://purl.obolibrary.org/obo/MONDO_0100309	http://identifiers.org/snomedct/763597000|http://identifiers.org/mesh/C531684|Orphanet:183518|http://purl.bioontology.org/ontology/ICD10CM/G11|DOID:0050951	ordo_group_of_disorders|disease_grouping|gard_rare
MONDO:0016599	biolink:Disease	autosomal dominant secondary polycythemia	Autosomal dominant form of secondary polycythemia.	Orphanet:247511|UMLS:CN201790	mondo.json	autosomal dominant secondary erythrocytosis|secondary polycythemia, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0016599	UMLS:CN201790|Orphanet:247511	ordo_disease
HGNC:16404	biolink:NamedThing	IL17F			mondo.json		http://identifiers.org/hgnc/16404		
HGNC:16406	biolink:NamedThing	EFHC1			mondo.json		http://identifiers.org/hgnc/16406		
GO:0008080	biolink:NamedThing	N-acetyltransferase activity	Catalysis of the transfer of an acetyl group to a nitrogen atom on the acceptor molecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0008080		
MONDO:0016595	biolink:Disease	inhalational anthrax	A rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated.	DOID:0050160|MedDRA:10035667|Orphanet:247257|MESH:C571912|ICD9:022.1|UMLS:C0155866|SCTID:11389007	mondo.json	woolsorters' disease|pulmonary anthrax|inhalation anthrax|respiratory anthrax disease|inhalation anthrax disease|wool-sorters' disease|respiratory anthrax	http://purl.obolibrary.org/obo/MONDO_0016595	http://identifiers.org/snomedct/11389007|DOID:0050160|http://identifiers.org/mesh/C571912|Orphanet:247257|UMLS:C0155866	ordo_disease
HGNC:16400	biolink:NamedThing	NLRP3			mondo.json		http://identifiers.org/hgnc/16400		
MONDO:0016596	biolink:Disease	hyperphosphatasia-intellectual disability syndrome		Orphanet:247262|OMIMPS:239300|SCTID:33982008|UMLS:C1855923	mondo.json	HPMR|Mabry syndrome|hyperphosphatasia with intellectual disability syndrome|hyperphosphatasia with mental retardation syndrome	http://purl.obolibrary.org/obo/MONDO_0016596	http://identifiers.org/snomedct/33982008|https://omim.org/phenotypicSeries/PS239300|UMLS:C1855923|Orphanet:247262	ordo_disease
MONDO:0016597	biolink:Disease	obsolete generalized pustular psoriasis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016597		
MONDO:0016598	biolink:Disease	autosomal recessive secondary polycythemia not associated with VHL gene		UMLS:CN226972|Orphanet:247378	mondo.json	autosomal recessive secondary polycythemia, non-Chuvash type|autosomal recessive secondary erythrocytosis not associated with VHL gene|autosomal recessive secondary erythrocytosis, non-Chuvash type	http://purl.obolibrary.org/obo/MONDO_0016598	UMLS:CN226972|Orphanet:247378	ordo_disease
MONDO:0016591	biolink:Disease	sporadic adult-onset ataxia of unknown etiology	Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported.	Orphanet:247234|SCTID:734023003	mondo.json	SAOA|idiopathic late-onset cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0016591	http://identifiers.org/snomedct/734023003|Orphanet:247234	ordo_disease
GO:0033013	biolink:NamedThing	tetrapyrrole metabolic process	The chemical reactions and pathways involving tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next.		mondo.json	tetrapyrrole metabolism	http://purl.obolibrary.org/obo/GO_0033013		
MONDO:0016592	biolink:Disease	non-hereditary degenerative ataxia		Orphanet:247239	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016592	Orphanet:247239	disease_grouping|ordo_group_of_disorders
MONDO:0016593	biolink:Disease	acquired ataxia	A type of ataxia that is acquired during the lifetime of the individual.	SCTID:722968003|Orphanet:247242	mondo.json	acquired ataxia	http://purl.obolibrary.org/obo/MONDO_0016593	http://identifiers.org/snomedct/722968003|Orphanet:247242	disease_grouping|ordo_group_of_disorders
MONDO:0016594	biolink:Disease	superficial siderosis	Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria.	GARD:0009484|Orphanet:247245	mondo.json	hemosiderosis of the central nervous system|superficial hemosiderosis of the central nervous system|superficial siderosis of the CNS|superficial siderosis of the central nervous system|superficial hemosiderosis of the CNS	http://purl.obolibrary.org/obo/MONDO_0016594	Orphanet:247245	ordo_disease
MONDO:0004515	biolink:Disease	obsolete olfactory neural tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004515		
UBERON:0015791	biolink:AnatomicalEntity	digit connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015791		
MONDO:0004514	biolink:Disease	chronic rhinitis	Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough.	ICD9:472.0|DOID:8252|NCIT:C34479|UMLS:C0008711|SCTID:86094006|ICD10CM:J31.0	mondo.json	rhinitis, chronic|rhinitis - chronic	http://purl.obolibrary.org/obo/MONDO_0004514	http://purl.bioontology.org/ontology/ICD10CM/J31.0|http://identifiers.org/snomedct/86094006|NCIT:C34479|UMLS:C0008711|DOID:8252	
UBERON:0015790	biolink:AnatomicalEntity	autopod skin			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015790		
MONDO:0004517	biolink:Disease	ureter tuberculosis	A tuberculosis that involves the ureter.	ICD9:016.2|UMLS:C0152800|SCTID:81359005|ICD9:016.20|DOID:827	mondo.json	ureter tuberculosis|tuberculosis of ureter	http://purl.obolibrary.org/obo/MONDO_0004517	UMLS:C0152800|http://identifiers.org/snomedct/81359005|DOID:827	
MONDO:0004516	biolink:Disease	bulbomembranous urethral cancer		NCIT:C39869|UMLS:C1511339|DOID:8259	mondo.json	bulbomembranous urethral malignant neoplasm	http://purl.obolibrary.org/obo/MONDO_0004516	DOID:8259|UMLS:C1511339|NCIT:C39869	
MONDO:0004511	biolink:Disease	lower clivus meningioma	A meningioma that affects the lower clivus.	NCIT:C5288|UMLS:C1334434|DOID:8239	mondo.json	meningioma of Lower clivus|meningioma of the lower clivus	http://purl.obolibrary.org/obo/MONDO_0004511	UMLS:C1334434|NCIT:C5288|DOID:8239	
MONDO:0004510	biolink:Disease	inflammatory liposarcoma	A rare morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum. It is characterized by the presence of a predominant inflammatory infiltrate composed of lymphoplasmacytic aggregates.	UMLS:C1370890|DOID:8233|NCIT:C6508	mondo.json	inflammatory liposarcoma	http://purl.obolibrary.org/obo/MONDO_0004510	NCIT:C6508|UMLS:C1370890|DOID:8233	
MONDO:0004513	biolink:Disease	adult pleomorphic rhabdomyosarcoma	An aggressive rhabdomyosarcoma occurring in adults. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually in the lower extremities.	ICDO:8901/3|DOID:8251|NCIT:C27369|UMLS:C1332211	mondo.json	pleomorphic rhabdomyosarcoma of adults|adult pleomorphic rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0004513	UMLS:C1332211|NCIT:C27369|DOID:8251	
MONDO:0004512	biolink:Disease	meningeal melanomatosis	A meningeal melanoma with secondary diffuse meningeal spread. (WHO)	ICDO:8728/3|UMLS:C1266114|NCIT:C6891|DOID:8243	mondo.json	melanomatosis of meningeal cluster|meningeal melanomatosis|leptomeningeal melanomatosis|meningeal cluster melanomatosis|meningeal melanomatosis (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0004512	UMLS:C1266114|NCIT:C6891|DOID:8243	
UBERON:0013136	biolink:AnatomicalEntity	vein of lip			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013136		
UBERON:0013139	biolink:AnatomicalEntity	ligament of liver			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013139		
UBERON:0015795	biolink:AnatomicalEntity	right lung lobar bronchus epitheium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015795		
UBERON:0015794	biolink:AnatomicalEntity	left lung lobar bronchus epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015794		
UBERON:0015796	biolink:AnatomicalEntity	liver blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015796		
MONDO:0016504	biolink:Disease	primary unilateral adrenal hyperplasia	Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland.	SCTID:715868005|UMLS:C4274967|Orphanet:231580	mondo.json	PUAH	http://purl.obolibrary.org/obo/MONDO_0016504	Orphanet:231580|UMLS:C4274967|http://identifiers.org/snomedct/715868005	ordo_disease
MONDO:0016505	biolink:Disease	aldosterone-producing adrenal cortex adenoma	An adenoma of the adrenal cortex that produces aldosterone. It may be associated with Conn syndrome. Clinical presentation includes hypertension, hypokalemia, and muscle weakness.	UMLS:C1706762|Orphanet:231625|UMLS:CN226945|EFO:1000015|MESH:D018246|MedDRA:10056950|NCIT:C48451	mondo.json	aldosterone producing adrenal cortical adenoma|aldosterone producing adrenal cortex adenoma|Pure aldosterone-producing adrenocortical carcinoma|aldosterone-producing adrenal cortex adenoma|APAC|Pure aldosterone-secreting adrenocortical carcinoma|adrenocortical carcinoma with pure aldosterone hypersecretion|Pure APAC	http://purl.obolibrary.org/obo/MONDO_0016505	NCIT:C48451|Orphanet:231625|UMLS:CN226945|UMLS:C1706762	ordo_disease
UBERON:0001152	biolink:AnatomicalEntity	cystic duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001152		
MONDO:0016506	biolink:Disease	ectopic aldosterone-producing tumor	Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement.	UMLS:CN201515|Orphanet:231632	mondo.json	Extra-adrenal aldosterone-producing tumor	http://purl.obolibrary.org/obo/MONDO_0016506	UMLS:CN201515|Orphanet:231632	ordo_disease
MONDO:0016507	biolink:Disease	obsolete rare surgically correctable form of primary aldosteronism	OBSOLETE. Surgically correctable forms of primary aldosteronism (also known as primary hyperaldosteronism) are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia.	UMLS:CN226946|Orphanet:231637	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016507	Orphanet:231637|UMLS:CN226946	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0016500	biolink:Disease	acute sensory ataxic neuropathy	Acute sensory ataxic neuropathy is a rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain.	Orphanet:231466|SCTID:766049000|UMLS:CN201503	mondo.json	acute sensory ataxic Guillain-Barré syndrome|acute sensory ataxic Guillain-BarrC) syndrome|acute sensory ataxic GBS|ASAN	http://purl.obolibrary.org/obo/MONDO_0016500	Orphanet:231466|UMLS:CN201503|http://identifiers.org/snomedct/766049000	ordo_disease
GO:0060632	biolink:NamedThing	regulation of microtubule-based movement	Any process that modulates the rate, frequency, or extent of microtubule-based movement, the movement of organelles, other microtubules and other particles along microtubules, mediated by motor proteins.		mondo.json		http://purl.obolibrary.org/obo/GO_0060632		
MONDO:0016501	biolink:Disease	Hermansky-Pudlak syndrome with pulmonary fibrosis	Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis.	Orphanet:231500|ICD10CM:E70.3|UMLS:CN201506	mondo.json	HPS with pulmonary fibrosis	http://purl.obolibrary.org/obo/MONDO_0016501	Orphanet:231500|UMLS:CN201506	ordo_clinical_subtype
MONDO:0016502	biolink:Disease	Hermansky-Pudlak syndrome without pulmonary fibrosis	Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.	Orphanet:231512|ICD10CM:E70.3|UMLS:CN201507	mondo.json	HPS without pulmonary fibrosis	http://purl.obolibrary.org/obo/MONDO_0016502	Orphanet:231512|UMLS:CN201507	ordo_clinical_subtype
MONDO:0016503	biolink:Disease	congenital erosive and vesicular dermatosis		Orphanet:231573	mondo.json	CEVD|congenital erosive and vesicular dermatosis with reticulated supple scarring	http://purl.obolibrary.org/obo/MONDO_0016503	Orphanet:231573	ordo_disease
UBERON:0001158	biolink:AnatomicalEntity	descending colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001158		
UBERON:0001157	biolink:AnatomicalEntity	transverse colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001157		
CHEBI:24527	biolink:ChemicalSubstance	herbicide	A substance used to destroy plant pests.		mondo.json	herbicides|Unkrautbekaempfungsmittel|Wildkrautbekaempfungsmittel|Unkrautvertilgungsmittel|Herbizid	http://purl.obolibrary.org/obo/CHEBI_24527		
UBERON:0001159	biolink:AnatomicalEntity	sigmoid colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001159		
MONDO:0004508	biolink:Disease	periapical periodontitis	Inflammation of the periapical tissue. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is periapical granuloma. Suppurative inflammation is periapical abscess.	EFO:1001391|MESH:D010485|UMLS:C0031030|SCTID:39273001|DOID:823	mondo.json	apical periodontitis	http://purl.obolibrary.org/obo/MONDO_0004508	UMLS:C0031030|http://identifiers.org/snomedct/39273001|DOID:823|http://identifiers.org/mesh/D010485	
UBERON:0001154	biolink:AnatomicalEntity	vermiform appendix			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001154		
MONDO:0004507	biolink:Disease	atypical breast papilloma	An intraductal papilloma of the breast characterized by the presence of focal epithelial atypia.	NCIT:C36089|UMLS:C1332346|DOID:8227	mondo.json	atypical breast papilloma	http://purl.obolibrary.org/obo/MONDO_0004507	DOID:8227|NCIT:C36089|UMLS:C1332346	
UBERON:0001153	biolink:AnatomicalEntity	caecum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001153		
UBERON:0001156	biolink:AnatomicalEntity	ascending colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001156		
MONDO:0004509	biolink:Disease	intrahepatic biliary papillomatosis	A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic bile ducts.	NCIT:C7125|UMLS:C1334258|DOID:8230	mondo.json	intrahepatic bile duct papillary neoplasm|intrahepatic bile duct papillomatosis|intrahepatic biliary papillomatosis	http://purl.obolibrary.org/obo/MONDO_0004509	DOID:8230|UMLS:C1334258|NCIT:C7125	
UBERON:0001155	biolink:AnatomicalEntity	colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001155		
MONDO:0004526	biolink:Disease	mixed endometrial stromal and smooth muscle tumor	A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma.	UMLS:C1513364|UMLS:C1519865|DOID:8302|NCIT:C40178	mondo.json	Stromomyoma|mixed endometrial stromal and smooth muscle neoplasm|uterine corpus soft tissue neoplasm	http://purl.obolibrary.org/obo/MONDO_0004526	NCIT:C40178|UMLS:C1513364|UMLS:C1519865|DOID:8302	
MONDO:0004525	biolink:Disease	scabies	A contagious skin infection that is caused by the burrowing parasitic mite, Sarcoptes scabiei, and is characterized by intense itching and small, raised red spots in the area of the mite burrows.	DOID:8295|NCIT:C34998|MESH:D012532|SCTID:128869009|ICD10CM:B86|UMLS:C0036262|ICD9:133.0	mondo.json	infestation by Sarcoptes scabiei|sarcoptic itch|infestation by Sarcoptes scabiei var hominis|Sarcoptes scabiei disease or disorder|Sarcoptes scabiei infectious disease|Sarcoptes scabiei caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0004525	http://purl.bioontology.org/ontology/ICD10CM/B86|http://identifiers.org/mesh/D012532|http://identifiers.org/snomedct/128869009|NCIT:C34998|UMLS:C0036262|DOID:8295	
CHEBI:24532	biolink:ChemicalSubstance	organic heterocyclic compound	A cyclic compound having as ring members atoms of carbon and at least of one other element.		mondo.json	organic heterocycle|organic heterocyclic compounds	http://purl.obolibrary.org/obo/CHEBI_24532		
MONDO:0004528	biolink:Disease	lymph node palisaded myofibroblastoma	A myofibroblastoma arising from the inguinal lymph nodes. It is characterized by the presence of nuclear palisading.	NCIT:C6584|DOID:8304|UMLS:C1335295	mondo.json	palisaded lymph node myofibroblastoma|palisaded myofibroblastoma of lymph node|palisaded myofibroblastoma of the lymph node	http://purl.obolibrary.org/obo/MONDO_0004528	NCIT:C6584|UMLS:C1335295|DOID:8304	
GO:1901738	biolink:NamedThing	regulation of vitamin A metabolic process	Any process that modulates the frequency, rate or extent of vitamin A metabolic process.		mondo.json	regulation of vitamin A metabolism	http://purl.obolibrary.org/obo/GO_1901738		
CHEBI:24531	biolink:ChemicalSubstance	heterocyclic antibiotic			mondo.json		http://purl.obolibrary.org/obo/CHEBI_24531		
MONDO:0004527	biolink:Disease	congenital granular cell tumor	An instance of granular cell tumor that is present from birth.	DOID:8303	mondo.json	congenital granular cell tumor	http://purl.obolibrary.org/obo/MONDO_0004527	DOID:8303	
MONDO:0004522	biolink:Disease	peritonitis	Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment.	DOID:8283|ICD9:567.82|ICD9:567.8|ICD9:567.89|EFO:0008588|MESH:D010538|NCIT:C26849|SCTID:86422009	mondo.json	acute generalized peritonitis|inflammation of peritoneum|primary bacterial peritonitis|retractile mesenteritis|peritoneum inflammation	http://purl.obolibrary.org/obo/MONDO_0004522	http://identifiers.org/mesh/D010538|DOID:8283|http://identifiers.org/snomedct/86422009|NCIT:C26849	
MONDO:0004521	biolink:Disease	adult epithelioid sarcoma	An epithelioid sarcoma occurring in adults.	DOID:8282|NCIT:C7944|UMLS:C0279545	mondo.json	adult epithelioid sarcoma|epithelioid sarcoma of adults|epithelioid sarcoma	http://purl.obolibrary.org/obo/MONDO_0004521	UMLS:C0279545|NCIT:C7944|DOID:8282	
MONDO:0004524	biolink:Disease	thyroid gland atypical follicular adenoma	A thyroid gland adenoma with increased cellularity and nuclear atypia. There is no capsular or vascular invasion. The clinical course is benign.	UMLS:C1266046|NCIT:C27729|DOID:8292|ICDO:8330/1	mondo.json	atypical follicular adenoma|thyroid gland atypical follicular adenoma|atypical follicular adenoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0004524	UMLS:C1266046|NCIT:C27729|DOID:8292	
MONDO:0004523	biolink:Disease	clear cell squamous cell skin carcinoma	A squamous cell carcinoma of the skin with a prominent clear cell component.	NCIT:C4459|UMLS:C0345978|SCTID:254652000|DOID:8288	mondo.json	clear cell squamous cell skin carcinoma|clear cell squamous cell carcinoma of skin|clear cell squamous cell carcinoma of the skin	http://purl.obolibrary.org/obo/MONDO_0004523	UMLS:C0345978|http://identifiers.org/snomedct/254652000|DOID:8288|NCIT:C4459	
HGNC:84	biolink:NamedThing	ACACA			mondo.json		http://identifiers.org/hgnc/84		
HGNC:87	biolink:NamedThing	ACAD8			mondo.json		http://identifiers.org/hgnc/87		
UBERON:0015788	biolink:AnatomicalEntity	olfactory apparatus chamber			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015788		
UBERON:0013126	biolink:AnatomicalEntity	vein of abdomen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013126		
UBERON:0015787	biolink:AnatomicalEntity	upper respiratory conduit			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015787		
MONDO:0004520	biolink:Disease	intratubular embryonal carcinoma	Stage 0 includes: pTis, N0, M0, S0. pTis: Intratubular germ cell neoplasia (carcinoma in situ). N0: regional lymph node metastasis. M0: No distant metastasis. S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)	NCIT:C7325|UMLS:C1336096|DOID:8275	mondo.json	stage 0 testicular embryonal carcinoma aJCC v7|stage 0 testicular embryonal carcinoma aJCC v6|intratubular embryonal carcinoma|stage 0 testicular embryonal carcinoma aJCC v6 and v7|stage 0 testicular embryonal carcinoma	http://purl.obolibrary.org/obo/MONDO_0004520	NCIT:C7325|UMLS:C1336096|DOID:8275	
HGNC:89	biolink:NamedThing	ACADM			mondo.json		http://identifiers.org/hgnc/89		
UBERON:0015789	biolink:AnatomicalEntity	cranial or facial muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015789		
UBERON:0013121	biolink:AnatomicalEntity	proximal epiphysis of phalanx of pes			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013121		
UBERON:0013122	biolink:AnatomicalEntity	distal epiphysis of phalanx of pes			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013122		
UBERON:0015783	biolink:AnatomicalEntity	smooth muscle layer in fatty layer of subcutaneous tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015783		
UBERON:0001141	biolink:AnatomicalEntity	right renal vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001141		
UBERON:0001140	biolink:AnatomicalEntity	renal vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001140		
UBERON:0013118	biolink:AnatomicalEntity	sulcus of brain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013118		
GO:0060623	biolink:NamedThing	regulation of chromosome condensation	Any process that modulates the rate, frequency, or extent of chromosome condensation, the progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0060623		
UBERON:0001146	biolink:AnatomicalEntity	suprarenal vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001146		
GO:0060627	biolink:NamedThing	regulation of vesicle-mediated transport	Any process that modulates the rate, frequency, or extent of vesicle-mediated transport, the directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0060627		
UBERON:0001148	biolink:AnatomicalEntity	median nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001148		
UBERON:0001143	biolink:AnatomicalEntity	hepatic vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001143		
MONDO:0004519	biolink:Disease	synovial angioma	A rare hemangioma arising from synovium lining surfaces.	DOID:8274|UMLS:C1336546|NCIT:C6525	mondo.json	angioma of synovium|synovial hemangioma|angioma of the synovium|hemangioma of the synovium|hemangioma of layer of synovial tissue|layer of synovial tissue hemangioma|hemangioma of synovium	http://purl.obolibrary.org/obo/MONDO_0004519	UMLS:C1336546|DOID:8274|NCIT:C6525	
SO:0000301	biolink:SequenceFeature	vertebrate_immune_system_gene_recombination_feature	A feature where recombination has occurred for the purpose of generating a diversity in the immune system.		mondo.json	vertebrate immune system gene recombination feature	http://purl.obolibrary.org/obo/SO_0000301		
MONDO:0004518	biolink:Disease	anterior urethra cancer	A malignant neoplasm that affects the portion of the urethra that is close to the outside of the body.	NCIT:C7641|DOID:8272|UMLS:C0279930	mondo.json	malignant tumor of anterior urethra|anterior urethral malignant tumor|malignant tumor of the anterior urethra|anterior urethral cancer|anterior urethra malignant neoplasm|malignant neoplasm of anterior urethra|malignant neoplasm of the anterior urethra|anterior urethra malignant tumor|anterior urethral malignant neoplasm	http://purl.obolibrary.org/obo/MONDO_0004518	DOID:8272|UMLS:C0279930|NCIT:C7641	
SO:0000300	biolink:SequenceFeature	recombination_feature_of_rearranged_gene	A location where a gene is rearranged due to recombination during mitosis or meiosis.		mondo.json	recombination feature of rearranged gene	http://purl.obolibrary.org/obo/SO_0000300		
UBERON:0001142	biolink:AnatomicalEntity	left renal vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001142		
UBERON:0001145	biolink:AnatomicalEntity	ovarian vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001145		
UBERON:0001144	biolink:AnatomicalEntity	testicular vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001144		
NCBITaxon:33351	biolink:OrganismalEntity	Panheteroptera		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_33351		
SO:0000342	biolink:SequenceFeature	site_specific_recombination_target_region	A region specifically recognised by a recombinase where recombination can occur during mitosis or meiosis.		mondo.json	site specific recombination target region	http://purl.obolibrary.org/obo/SO_0000342		
UBERON:0015777	biolink:AnatomicalEntity	transitional epithelium of prostatic urethra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015777		
GO:0045017	biolink:NamedThing	glycerolipid biosynthetic process	The chemical reactions and pathways resulting in the formation of glycerolipids, any lipid with a glycerol backbone.		mondo.json	glycerolipid anabolism|glycerolipid biosynthesis|glycerolipid synthesis|glycerolipid formation	http://purl.obolibrary.org/obo/GO_0045017		
HGNC:53	biolink:NamedThing	ABCC2			mondo.json		http://identifiers.org/hgnc/53		
HGNC:57	biolink:NamedThing	ABCC6			mondo.json		http://identifiers.org/hgnc/57		
HGNC:59	biolink:NamedThing	ABCC8			mondo.json		http://identifiers.org/hgnc/59		
UBERON:0001130	biolink:AnatomicalEntity	vertebral column			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001130		
UBERON:0001136	biolink:AnatomicalEntity	mesothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001136		
UBERON:0001135	biolink:AnatomicalEntity	smooth muscle tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001135		
UBERON:0001138	biolink:AnatomicalEntity	superior mesenteric vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001138		
UBERON:0001137	biolink:AnatomicalEntity	dorsum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001137		
UBERON:0001132	biolink:AnatomicalEntity	parathyroid gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001132		
NCBITaxon:33356	biolink:OrganismalEntity	Reduvioidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_33356		
UBERON:0001131	biolink:AnatomicalEntity	vertebral foramen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001131		
UBERON:0001134	biolink:AnatomicalEntity	skeletal muscle tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001134		
NCBITaxon:33354	biolink:OrganismalEntity	Cimicomorpha		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_33354		
UBERON:0001133	biolink:AnatomicalEntity	cardiac muscle tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001133		
MONDO:0004504	biolink:Disease	penile urethral cancer	A urethra cancer that involves the penis.	DOID:8223|UMLS:C1518950|NCIT:C39868	mondo.json	penile urethral malignant neoplasm|urethra cancer of penis|penis urethra cancer	http://purl.obolibrary.org/obo/MONDO_0004504	NCIT:C39868|DOID:8223|UMLS:C1518950	
NCBITaxon:33340	biolink:OrganismalEntity	Neoptera		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_33340		
MONDO:0004503	biolink:Disease	upper clivus meningioma	A meningioma that affects the upper clivus.	DOID:8221|NCIT:C5290|UMLS:C1336871	mondo.json	meningioma of upper clivus|meningioma of the upper clivus	http://purl.obolibrary.org/obo/MONDO_0004503	DOID:8221|UMLS:C1336871|NCIT:C5290	
MONDO:0004506	biolink:Disease	microscopic breast papilloma	A benign papillary neoplasm that arises in a terminal ductal lobular unit. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Peripheral breast papillomas are often multiple and are usually found microscopically. Patients are often asymptomatic.	UMLS:C1335390|NCIT:C36088|DOID:8225	mondo.json	peripheral breast papilloma|microscopic breast papilloma	http://purl.obolibrary.org/obo/MONDO_0004506	UMLS:C1335390|DOID:8225|NCIT:C36088	
MONDO:0004505	biolink:Disease	central breast papilloma	A benign papillary neoplasm that arises in a large duct of the breast. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Patients usually present with nipple discharge.	UMLS:C1332896|NCIT:C36087|DOID:8224	mondo.json	large duct breast papilloma|solitary intraductal breast papilloma	http://purl.obolibrary.org/obo/MONDO_0004505	DOID:8224|NCIT:C36087|UMLS:C1332896	
MONDO:0004500	biolink:Disease	lung superior sulcus carcinoma	A carcinoma originating from the apical lung. Most superior sulcus lung carcinomas are bronchogenic carcinomas. This carcinoma may be associated with Pancoast syndrome. lt is also known as Pancoast tumor.	DOID:8208|UMLS:C1336529|NCIT:C7779	mondo.json	superior sulcus carcinoma of lung|superior sulcus carcinoma of the lung|superior sulcus lung carcinoma	http://purl.obolibrary.org/obo/MONDO_0004500	NCIT:C7779|UMLS:C1336529|DOID:8208	
HGNC:61	biolink:NamedThing	ABCD1			mondo.json		http://identifiers.org/hgnc/61		
UBERON:0001118	biolink:AnatomicalEntity	lobe of thyroid gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001118		
HGNC:60	biolink:NamedThing	ABCC9			mondo.json		http://identifiers.org/hgnc/60		
MONDO:0004502	biolink:Disease	parapharyngeal meningioma		NCIT:C5303|DOID:8216|UMLS:C1335345	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004502	UMLS:C1335345|DOID:8216|NCIT:C5303	
MONDO:0004501	biolink:Disease	fallopian tube cystadenofibroma	A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The tumors are round and solitary and contain connective tissue and cystic structures lined by serous-type epithelium. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder.	NCIT:C40114|UMLS:C1517111|DOID:8211	mondo.json	cystadenofibroma of fallopian tube|fallopian tube cystadenofibroma|fallopian tube serous cystadenofibroma	http://purl.obolibrary.org/obo/MONDO_0004501	NCIT:C40114|UMLS:C1517111|DOID:8211	
UBERON:0001119	biolink:AnatomicalEntity	right lobe of thyroid gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001119		
UBERON:0015766	biolink:AnatomicalEntity	epithelium of duct of salivary gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015766		
HGNC:67	biolink:NamedThing	ABCD3			mondo.json		http://identifiers.org/hgnc/67		
HGNC:68	biolink:NamedThing	ABCD4			mondo.json		http://identifiers.org/hgnc/68		
UBERON:0001125	biolink:AnatomicalEntity	serratus ventralis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001125		
NCBITaxon:33349	biolink:OrganismalEntity	Neoheteroptera		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_33349		
NCBITaxon:33347	biolink:OrganismalEntity	Euheteroptera		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_33347		
NCBITaxon:33345	biolink:OrganismalEntity	Heteroptera		GC_ID:1	mondo.json	true bugs	http://purl.obolibrary.org/obo/NCBITaxon_33345		
UBERON:0001120	biolink:AnatomicalEntity	left lobe of thyroid gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001120		
NCBITaxon:33342	biolink:OrganismalEntity	Paraneoptera		GC_ID:1	mondo.json	Hemipteroidea|hemipteroid assemblage	http://purl.obolibrary.org/obo/NCBITaxon_33342		
SO:0000325	biolink:SequenceFeature	rRNA_large_subunit_primary_transcript	A primary transcript encoding a large ribosomal subunit RNA.		mondo.json	35S rRNA primary transcript|rRNA large subunit primary transcript	http://purl.obolibrary.org/obo/SO_0000325		
NCBITaxon:33343	biolink:OrganismalEntity	Prosorrhyncha		GC_ID:1	mondo.json	Heteropterodea|bugs	http://purl.obolibrary.org/obo/NCBITaxon_33343		
MONDO:0004559	biolink:Disease	malignant glandular tumor of peripheral nerve sheath	A variant of malignant peripheral nerve sheath tumor characterized by the presence of glandular epithelium.	ICD9:171.9|SCTID:699659007|UMLS:C1333821|NCIT:C6560|DOID:8420	mondo.json	malignant glandular tumor of the peripheral nerve sheath|malignant glandular peripheral nerve sheath neoplasm|malignant glandular tumor of peripheral nerve sheath|glandular MPNST|malignant glandular neoplasm of the peripheral nerve sheath|malignant glandular neoplasm of peripheral nerve sheath|malignant glandular schwannoma|malignant glandular peripheral nerve sheath tumor|glandular malignant peripheral nerve sheath tumor	http://purl.obolibrary.org/obo/MONDO_0004559	UMLS:C1333821|http://identifiers.org/snomedct/699659007|NCIT:C6560|DOID:8420	
MONDO:0004558	biolink:Disease	thyroid gland macrofollicular adenoma	A thyroid gland adenoma composed of large size follicles.	UMLS:C0334329|ICDO:8334/0|NCIT:C4161|DOID:8419	mondo.json	macrofollicular adenoma|macrofollicular adenoma (morphologic abnormality)|colloid adenoma	http://purl.obolibrary.org/obo/MONDO_0004558	NCIT:C4161|UMLS:C0334329|DOID:8419	
MONDO:0004555	biolink:Disease	kidney angiomyolipoma	An angiomyolipoma arising from the kidney.	UMLS:C0241961|SCTID:254921004|DOID:8411|ONCOTREE:RAML|NCIT:C3888|EFO:1000312	mondo.json	angiomyolipoma of kidney|kidney angiomyolipoma|angiomyolipoma of the kidney|renal angiomyolipoma|RAML	http://purl.obolibrary.org/obo/MONDO_0004555	UMLS:C0241961|http://identifiers.org/snomedct/254921004|DOID:8411|NCIT:C3888	
MONDO:0004554	biolink:Disease	childhood kidney angiomyolipoma	An angiomyolipoma occurring in childhood.	DOID:8410|UMLS:C1333000|NCIT:C6565	mondo.json	pediatric kidney angiomyolipoma|kidney angiomyolipoma of childhood|pediatric renal angiomyolipoma|childhood renal angiomyolipoma	http://purl.obolibrary.org/obo/MONDO_0004554	NCIT:C6565|DOID:8410|UMLS:C1333000	
MONDO:0004557	biolink:Disease	congenital fibrosarcoma	A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes.	ICD9:171.9|ONCOTREE:IFS|UMLS:C0334459|SCTID:403996004|NCIT:C4244|ICDO:8814/3|DOID:8418	mondo.json	IFS|congenital fibrosarcoma|infantile fibrosarcoma (morphologic abnormality)|infantile fibrosarcoma|infantile fibrosarcoma (congenital fibrosarcoma)	http://purl.obolibrary.org/obo/MONDO_0004557	NCIT:C4244|DOID:8418|UMLS:C0334459|http://identifiers.org/snomedct/403996004	
CHR:9606-chr16p12.2-p11.2	biolink:NamedThing	16p12.2-p11.2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr16p12.2-p11.2		
MONDO:0004556	biolink:Disease	carcinoma arising in nasal papillomatosis	A rare squamous cell carcinoma that either arises from or is associated with the presence of inverted papilloma in the nose.	DOID:8415|NCIT:C27389|UMLS:C1332840	mondo.json	carcinoma arising in nasal papillomatosis	http://purl.obolibrary.org/obo/MONDO_0004556	UMLS:C1332840|NCIT:C27389|DOID:8415	
MONDO:0004551	biolink:Disease	Meckel diverticulitis	Inflammation of a congenital diverticulum of the lower intestine.	UMLS:C0267497|NCIT:C27300|SCTID:48241004|DOID:8408	mondo.json	inflammation of Meckel's diverticulum|Meckel diverticulitis|Meckel's diverticulum inflammation|Meckel's diverticulitis	http://purl.obolibrary.org/obo/MONDO_0004551	NCIT:C27300|http://identifiers.org/snomedct/48241004|DOID:8408|UMLS:C0267497	
CHR:9606-chr6q1	biolink:NamedThing	6q1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr6q1		
MONDO:0004550	biolink:Disease	malignant cornea melanoma	A melanoma within the cornea of the eye.	DOID:8400|NCIT:C4553|UMLS:C0346367	mondo.json	malignant melanoma of cornea|malignant melanoma of the cornea|melanoma of cornea|cornea melanoma|melanoma of the cornea|malignant cornea melanoma|cornea melanoma (disease)|melanoma (disease) of cornea|corneal melanoma|malignant corneal melanoma	http://purl.obolibrary.org/obo/MONDO_0004550	DOID:8400|NCIT:C4553|UMLS:C0346367	
MONDO:0004553	biolink:Disease	obsolete extrinsic allergic alveolitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004553		
MONDO:0004552	biolink:Disease	microinvasive cervical squamous cell carcinoma	A cervical squamous cell carcinoma with minimal stromal invasion. The risk of lymph node metastasis is low.	UMLS:C1333370|DOID:8409|NCIT:C36094	mondo.json	early invasive cervical squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004552	DOID:8409|NCIT:C36094|UMLS:C1333370	
MONDO:0016548	biolink:Disease	megacystis-megaureter syndrome	Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition.	Orphanet:238637|SCTID:253904001	mondo.json	megaureter-megacystis syndrome	http://purl.obolibrary.org/obo/MONDO_0016548	Orphanet:238637|http://identifiers.org/snomedct/253904001	ordo_disease
UBERON:0001194	biolink:AnatomicalEntity	splenic artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001194		
MONDO:0016549	biolink:Disease	primary megaureter, adult-onset form		Orphanet:238642|UMLS:CN201632	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016549	Orphanet:238642|UMLS:CN201632	ordo_clinical_subtype
UBERON:0001193	biolink:AnatomicalEntity	hepatic artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001193		
UBERON:0001196	biolink:AnatomicalEntity	middle colic artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001196		
MONDO:0016544	biolink:Disease	IgG4-related mesenteritis	Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate).	SCTID:1092381000119100|GARD:0008169|Orphanet:238593	mondo.json	liposclerotic mesenteritis|mesenteric panniculitis|isolated mesenteric lipodystrophy|mesenteric lipogranuloma|sclerosing mesenteritis|lipomatous mesenteritis	http://purl.obolibrary.org/obo/MONDO_0016544	http://identifiers.org/snomedct/1092381000119100|Orphanet:238593	ordo_disease
UBERON:0001190	biolink:AnatomicalEntity	ovarian artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001190		
MONDO:0016545	biolink:Disease	leukoencephalopathy-palmoplantar keratoderma syndrome	Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.	Orphanet:2386|GARD:0003232|UMLS:CN201627	mondo.json	leukoencephalopathy palmoplantar keratoderma	http://purl.obolibrary.org/obo/MONDO_0016545	Orphanet:2386|UMLS:CN201627	ordo_disease|gard_rare
MONDO:0016546	biolink:Disease	primary orthostatic tremor	Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing.	SCTID:715902009|GARD:0008563|MESH:C536418|Orphanet:238606	mondo.json	pot|orthostatic tremor, primary|shaky leg syndrome|OT	http://purl.obolibrary.org/obo/MONDO_0016546	http://identifiers.org/mesh/C536418|Orphanet:238606|http://identifiers.org/snomedct/715902009	gard_rare|ordo_disease
MONDO:0016547	biolink:Disease	Beckwith-Wiedemann syndrome due to NSD1 mutation		Orphanet:238613|UMLS:CN201629	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016547	Orphanet:238613|UMLS:CN201629	ordo_etiological_subtype
UBERON:0001191	biolink:AnatomicalEntity	common iliac artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001191		
MONDO:0016540	biolink:Disease	congenital secondary polycythemia		Orphanet:238536	mondo.json	congenital secondary erythrocytosis	http://purl.obolibrary.org/obo/MONDO_0016540	Orphanet:238536	ordo_group_of_disorders|disease_grouping
MONDO:0016541	biolink:Disease	acquired secondary polycythemia	An instance of secondary polycythemia that is acquired during the lifetime of the individual.	Orphanet:238547	mondo.json	acquired secondary erythrocytosis|acquired secondary polycythemia	http://purl.obolibrary.org/obo/MONDO_0016541	Orphanet:238547	ordo_group_of_disorders|disease_grouping
MONDO:0016542	biolink:Disease	immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.	Orphanet:238569|UMLS:CN201623|GARD:0013016	mondo.json	autosomal recessive early-onset IBD|autosomal recessive early-onset inflammatory bowel disease|IL10-related early-onset IBD|IL10-related early-onset inflammatory bowel disease	http://purl.obolibrary.org/obo/MONDO_0016542	UMLS:CN201623|Orphanet:238569	ordo_disease
MONDO:0016543	biolink:Disease	hyperphenylalaninemia due to tetrahydrobiopterin deficiency	Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine.	UMLS:C0751435|GARD:0007751|Orphanet:238583|SCTID:68528007	mondo.json	hyperphenylalaninemia|hyperphenylalaninemia due to BH4 deficiency|hyperphenylalaninemia due to tetrahydrobiopterin deficiency|non-phenylketonuric hyperphenylalaninemia	http://purl.obolibrary.org/obo/MONDO_0016543	UMLS:C0751435|http://identifiers.org/snomedct/68528007|Orphanet:238583	ordo_disease
UBERON:0001197	biolink:AnatomicalEntity	ileocolic artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001197		
UBERON:0001199	biolink:AnatomicalEntity	mucosa of stomach			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001199		
UBERON:0013161	biolink:AnatomicalEntity	left lateral ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013161		
MONDO:0004569	biolink:Disease	brachial plexus neuropathy from injury		ICD9:353.0|DOID:8443|UMLS:C0006091	mondo.json	brachial plexus lesions|brachial plexus lesion	http://purl.obolibrary.org/obo/MONDO_0004569	UMLS:C0006091|DOID:8443	
UBERON:0013162	biolink:AnatomicalEntity	right lateral ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013162		
MONDO:0004566	biolink:Disease	postgastrectomy syndrome	Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (dumping syndrome and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies.	UMLS:C0032763|MESH:D011178|SCTID:80193009|DOID:8439|ICD9:564.2	mondo.json	postgastric surgery syndrome	http://purl.obolibrary.org/obo/MONDO_0004566	DOID:8439|UMLS:C0032763|http://identifiers.org/snomedct/80193009|http://identifiers.org/mesh/D011178	
MONDO:0004565	biolink:Disease	intestinal obstruction	Blockage of the normal flow of the intestinal contents within the bowel.	UMLS:C0021843|DOID:8437|MESH:D007415|ICD9:560.9|NCIT:C9175|ICD9:560.89|SCTID:81060008	mondo.json	bowel obstruction	http://purl.obolibrary.org/obo/MONDO_0004565	http://identifiers.org/mesh/D007415|UMLS:C0021843|DOID:8437|NCIT:C9175|http://identifiers.org/snomedct/81060008	
MONDO:0004568	biolink:Disease	paralytic ileus	An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction.	MESH:D007418|DOID:8442|NCIT:C93045|UMLS:C0030446|SCTID:55525008|ICD9:560.1|HP:0002590	mondo.json	paralytic ileus|paralytic ileus (disease)	http://purl.obolibrary.org/obo/MONDO_0004568	DOID:8442|http://identifiers.org/snomedct/55525008|NCIT:C93045|UMLS:C0030446	
MONDO:0004567	biolink:Disease	ileus	Decrease in peristalsis in the absence of a mechanical bowel obstruction.	DOID:8440|SCTID:710572000|MESH:D045823|NCIT:C37979|UMLS:C1258215	mondo.json	ileus of intestine	http://purl.obolibrary.org/obo/MONDO_0004567	UMLS:C1258215|DOID:8440|http://identifiers.org/mesh/D045823|http://identifiers.org/snomedct/710572000|NCIT:C37979	
UBERON:0013160	biolink:AnatomicalEntity	epithalamus ventricular layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013160		
MONDO:0004562	biolink:Disease	breast apocrine carcinoma in situ	A ductal breast carcinoma in situ, characterized by the presence of neoplastic epithelial cells with apocrine differentiation.	UMLS:C1332315|DOID:8428|NCIT:C5140	mondo.json	apocrine carcinoma in situ of breast|apocrine carcinoma in situ of the breast|apocrine breast carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0004562	NCIT:C5140|DOID:8428|UMLS:C1332315	
MONDO:0004561	biolink:Disease	retinal melanoma	A melanoma affecting the retinal portion of the eye. --2003	NCIT:C8601|UMLS:C0853394|SCTID:423673009|DOID:8427	mondo.json	retinal melanoma|melanoma (disease) of retina|malignant retinal melanoma|retina melanoma|malignant melanoma of retina|malignant melanoma of the retina|melanoma of retina|retina melanoma (disease)|melanoma of the retina	http://purl.obolibrary.org/obo/MONDO_0004561	UMLS:C0853394|DOID:8427|http://identifiers.org/snomedct/423673009|NCIT:C8601	
MONDO:0004564	biolink:Disease	thyroid malformation	An anatomic abnormality of the thyroid gland.	NCIT:C27331|DOID:8433	mondo.json	thyroid gland malformation	http://purl.obolibrary.org/obo/MONDO_0004564	NCIT:C27331|DOID:8433	
MONDO:0004563	biolink:Disease	physiological polycythemia	Polycythemia that is not pathologic.	NCIT:C27311|UMLS:C0856817|DOID:8431	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004563	NCIT:C27311|DOID:8431|UMLS:C0856817	
UBERON:0013165	biolink:AnatomicalEntity	epiglottic vallecula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013165		
MONDO:0004560	biolink:Disease	follicular infundibulum tumor		NCIT:C4469|UMLS:C0346006|ICD9:239.2|SCTID:254694002|DOID:8426	mondo.json	neoplasm of the follicular infundibulum|basal cell hamartoma with follicular differentiation|follicular infundibulum neoplasm|tumor of the follicular infundibulum|tumor of follicular infundibulum	http://purl.obolibrary.org/obo/MONDO_0004560	NCIT:C4469|DOID:8426|UMLS:C0346006|http://identifiers.org/snomedct/254694002	
MONDO:0016537	biolink:Disease	lymphoproliferative syndrome	A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis).	OMIMPS:308240|UMLS:CN201619|Orphanet:238510|MESH:D008232|DOID:0060704|SCTID:277466009|NCIT:C9308	mondo.json	lymphoproliferative disorder	http://purl.obolibrary.org/obo/MONDO_0016537	UMLS:CN201619|NCIT:C9308|http://identifiers.org/mesh/D008232|Orphanet:238510|https://omim.org/phenotypicSeries/PS308240|DOID:0060704|http://identifiers.org/snomedct/277466009	disease_grouping|ordo_group_of_disorders
UBERON:0001183	biolink:AnatomicalEntity	inferior mesenteric artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001183		
MONDO:0016538	biolink:Disease	obsolete hypotonia-cystinuria syndrome type 1			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016538		
UBERON:0001182	biolink:AnatomicalEntity	superior mesenteric artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001182		
MONDO:0016539	biolink:Disease	atypical hypotonia-cystinuria syndrome	A form of hypotonia-cystinuria syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).	UMLS:CN201620|Orphanet:238523	mondo.json	atypical HCS	http://purl.obolibrary.org/obo/MONDO_0016539	UMLS:CN201620|Orphanet:238523	ordo_disease
UBERON:0001185	biolink:AnatomicalEntity	right renal artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001185		
UBERON:0001184	biolink:AnatomicalEntity	renal artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001184		
MONDO:0016533	biolink:Disease	apolipoprotein A-II amyloidosis		Orphanet:238269|UMLS:CN201610	mondo.json	familial amyloid nephropathy due to apolipoprotein A-II variant|AApoAII amyloidosis|hereditary renal amyloidosis due to apolipoprotein A-II variant|hereditary amyloid nephropathy due to apolipoprotein A-II variant|familial renal amyloidosis due to apolipoprotein A-II variant	http://purl.obolibrary.org/obo/MONDO_0016533	Orphanet:238269|UMLS:CN201610	ordo_clinical_subtype
MONDO:0016534	biolink:Disease	infundibulo-neurohypophysitis		Orphanet:238305	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016534	Orphanet:238305	ordo_disease
MONDO:0016535	biolink:Disease	hypohidrotic ectodermal dysplasia	A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency).	NCIT:C84562|HP:0007607|Orphanet:238468|SCTID:7731005|GARD:0000076|DOID:14793	mondo.json	anhidrotic ectodermal dysplasia 1|HED|ectodermal dysplasia 1, Anhydrotic|hypohidrotic X-linked ectodermal dysplasia|CST syndrome|EDA|anhidrotic ectodermal dysplasia 3|ectodermal dysplasia anhidrotic|anhidrotic ectodermal dysplasia|ectodermal dysplasia, hypohidrotic	http://purl.obolibrary.org/obo/MONDO_0016535	Orphanet:238468|DOID:14793|NCIT:C84562	ordo_disease|gard_rare
MONDO:0016536	biolink:Disease	autosomal recessive lymphoproliferative disease	A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia.	Orphanet:238505	mondo.json	CD27 deficiency	http://purl.obolibrary.org/obo/MONDO_0016536	Orphanet:238505	ordo_disease
MONDO:0016530	biolink:Disease	laryngocele	A rare congenital malformation in the larynx. It is characterized by the presence of an air-filled sac within the laryngeal wall which may bulge on the neck.	NCIT:C97062|UMLS:C0265761|ICD9:748.3|MESH:D059608|Orphanet:2372|ICD10CM:Q31.3|SCTID:51523009|GARD:0003191|MedDRA:10023885	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016530	UMLS:C0265761|NCIT:C97062|http://identifiers.org/mesh/D059608|http://identifiers.org/snomedct/51523009|Orphanet:2372|http://purl.bioontology.org/ontology/ICD10CM/Q31.3	gard_rare|ordo_malformation_syndrome
MONDO:0016531	biolink:Disease	digestive duplication		Orphanet:238	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016531	Orphanet:238	ordo_morphological_anomaly
MONDO:0016532	biolink:Disease	Lennox-Gastaut syndrome	Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.	GARD:0009912|OMIM:606369|DOID:0050561|MESH:D065768|SCTID:230418006|Orphanet:2382|MedDRA:10048816|UMLS:C0238111|NCIT:C84816	mondo.json	Lennox syndrome|LGS|macrocephaly and epileptic encephalopathy|epileptic encephalopathy Lennox-Gastaut type|encephalopathy of childhood	http://purl.obolibrary.org/obo/MONDO_0016532	DOID:0050561|http://identifiers.org/mesh/D065768|http://identifiers.org/snomedct/230418006|NCIT:C84816|UMLS:C0238111|https://omim.org/entry/606369|Orphanet:2382	ordo_disease|gard_rare
UBERON:0001187	biolink:AnatomicalEntity	testicular artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001187		
UBERON:0001186	biolink:AnatomicalEntity	left renal artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001186		
UBERON:0001189	biolink:AnatomicalEntity	left testicular artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001189		
UBERON:0001188	biolink:AnatomicalEntity	right testicular artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001188		
HGNC:90	biolink:NamedThing	ACADS			mondo.json		http://identifiers.org/hgnc/90		
MONDO:0004537	biolink:Disease	intestinal variant cervical mucinous adenocarcinoma	A cervical mucinous adenocarcinoma that resembles the large intestinal adenocarcinoma.	DOID:8339|UMLS:C1516422|NCIT:C40203|ONCOTREE:ICEMU	mondo.json	intestinal type mucinous carcinoma|cervical mucinous adenocarcinoma, intestinal-type|cervical mucinous adenocarcinoma, intestinal variant	http://purl.obolibrary.org/obo/MONDO_0004537	DOID:8339|UMLS:C1516422|NCIT:C40203	
UBERON:0013150	biolink:AnatomicalEntity	future brain vesicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013150		
UBERON:0013151	biolink:AnatomicalEntity	choroidal artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013151		
MONDO:0004536	biolink:Disease	obsolete villoglandular variant cervical mucinous adenocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004536		
MONDO:0004539	biolink:Disease	aortic malignant tumor	A cancer that involves the aorta.	UMLS:C1334560|NCIT:C5375|DOID:8352	mondo.json	aortic malignant neoplasm|cancer of aorta|malignant aorta neoplasm|aorta cancer|malignant neoplasm of aorta|malignant neoplasm of the aorta|malignant aortic neoplasm|malignant tumor of the aorta|malignant tumor of aorta	http://purl.obolibrary.org/obo/MONDO_0004539	UMLS:C1334560|NCIT:C5375|DOID:8352	
HGNC:92	biolink:NamedThing	ACADVL			mondo.json		http://identifiers.org/hgnc/92		
MONDO:0004538	biolink:Disease	endocervical type cervical mucinous adenocarcinoma	A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix.	DOID:8340|NCIT:C40202|UMLS:C1516421	mondo.json	cervical mucinous adenocarcinoma, endocervical type|cervical adenocarcinoma, endocervical type	http://purl.obolibrary.org/obo/MONDO_0004538	NCIT:C40202|DOID:8340|UMLS:C1516421	
HGNC:91	biolink:NamedThing	ACADSB			mondo.json		http://identifiers.org/hgnc/91		
MONDO:0004533	biolink:Disease	perineural angioma	A hemangioma arising from perineural tissues.	NCIT:C6526|UMLS:C1335382|DOID:8331	mondo.json	perineural hemangioma	http://purl.obolibrary.org/obo/MONDO_0004533	NCIT:C6526|UMLS:C1335382|DOID:8331	
HGNC:94	biolink:NamedThing	ACAT2			mondo.json		http://identifiers.org/hgnc/94		
MONDO:0004532	biolink:Disease	auditory system cancer	A malignant neoplasm involving the auditory system	MESH:D004428|DOID:833|NCIT:C3000	mondo.json	auditory system cancer|malignant auditory system neoplasm|malignant neoplasm of auditory system|cancer of auditory system	http://purl.obolibrary.org/obo/MONDO_0004532	DOID:833	
HGNC:93	biolink:NamedThing	ACAT1			mondo.json		http://identifiers.org/hgnc/93		
NCBITaxon:33392	biolink:OrganismalEntity	Endopterygota		GC_ID:1	mondo.json	Holometabola	http://purl.obolibrary.org/obo/NCBITaxon_33392		
MONDO:0004535	biolink:Disease	childhood choriocarcinoma of the ovary	A non-gestational choriocarcinoma that arises from the ovary and occurs in children.	UMLS:C1332987|DOID:8336|NCIT:C6549	mondo.json	pediatric ovarian choriocarcinoma|pediatric choriocarcinoma of ovary|pediatric choriocarcinoma of the ovary|childhood ovarian choriocarcinoma|choriocarcinoma of ovary of childhood|childhood choriocarcinoma of ovary	http://purl.obolibrary.org/obo/MONDO_0004535	UMLS:C1332987|NCIT:C6549|DOID:8336	
MONDO:0004534	biolink:Disease	microglandular adenosis of breast	A rare variant of breast adenosis characterized by the proliferation of small round glands in a collagenous stroma. The epithelial cells are cuboidal and there are no myopepithelial cells present. There is no evidence of atypia.	NCIT:C5199|DOID:8335|UMLS:C1334753	mondo.json	breast microglandular adenosis|microglandular adenosis of the breast	http://purl.obolibrary.org/obo/MONDO_0004534	NCIT:C5199|DOID:8335|UMLS:C1334753	
HGNC:95	biolink:NamedThing	SLC33A1			mondo.json		http://identifiers.org/hgnc/95		
UBERON:0013158	biolink:AnatomicalEntity	foregut-midgut junction gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013158		
UBERON:0013159	biolink:AnatomicalEntity	epithalamus mantle layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013159		
MONDO:0004531	biolink:Disease	sclerosing adenosis of breast	Breast adenosis characterized by the proliferation of acini, a lobulated architectural pattern, and stromal sclerosis. The luminal epithelial and myopepithelial cells are preserved. Microcalcifications and foci of apocrine metaplasia may be present.	SCTID:105261000119101|DOID:8310|NCIT:C5205|UMLS:C1335931	mondo.json	sclerosing breast adenosis|sclerosing adenosis of the breast|sclerosing adenosis|breast sclerosing adenosis	http://purl.obolibrary.org/obo/MONDO_0004531	http://identifiers.org/snomedct/105261000119101|NCIT:C5205|DOID:8310|UMLS:C1335931	
MONDO:0004530	biolink:Disease	early invasive cervical adenocarcinoma	A cervical adenocarcinoma with minimal stromal invasion. The risk of local lymph node metastasis is insignificant and the prognosis is excellent.	NCIT:C36096|DOID:8307|UMLS:C1333369	mondo.json	cervical microinvasive adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004530	DOID:8307|NCIT:C36096|UMLS:C1333369	
MONDO:0016519	biolink:Disease	obsolete keratosis follicularis spinulosa decalvans			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016519		
GO:0045058	biolink:NamedThing	T cell selection	The process in which T cells that express T cell receptors that are restricted by self MHC protein complexes and tolerant to self antigens are selected for further maturation.		mondo.json	T-lymphocyte selection|T-cell selection|T lymphocyte selection	http://purl.obolibrary.org/obo/GO_0045058		
UBERON:0013156	biolink:AnatomicalEntity	1st arch mandibular endoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013156		
MONDO:0016526	biolink:Disease	trisomy 9p	Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.	UMLS:C0265428|Orphanet:236|GARD:0005364|Orphanet:262767	mondo.json	chromosome 9p duplication|Duplication 9p|partial duplication of the short arm of chromosome 9|9p trisomy|partial trisomy of the short arm of chromosome type 9|Duplication of the short arm of chromosome 9|partial duplication of chromosome 9p|9p duplication|trisomy of the short arm of chromosome 9|partial trisomy of chromosome 9p|partial trisomy 9p|trisomy type 9p|partial trisomy of the short arm of chromosome 9	http://purl.obolibrary.org/obo/MONDO_0016526	UMLS:C0265428|Orphanet:236|Orphanet:262767	disease_grouping|ordo_malformation_syndrome|ordo_group_of_disorders|gard_rare
UBERON:0001172	biolink:AnatomicalEntity	hepatic acinus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001172		
MONDO:0016527	biolink:Disease	glycogen storage disease due to lactate dehydrogenase deficiency		GARD:0003159|Orphanet:2364|MESH:C580233	mondo.json	lactate dehydrogenase deficiency|glycogenosis due to lactate dehydrogenase deficiency|GSD due to lactate dehydrogenase deficiency|LDH deficiency	http://purl.obolibrary.org/obo/MONDO_0016527	Orphanet:2364|http://identifiers.org/mesh/C580233	ordo_disease
UBERON:0001171	biolink:AnatomicalEntity	portal lobule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001171		
MONDO:0016528	biolink:Disease	limb body wall complex	Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts.	SCTID:716106000|Orphanet:2369|UMLS:CN201594|GARD:0003251|UMLS:C4274839	mondo.json	body stalk anomaly|short umbilical cord syndrome|aplasia of the cord|limb-body wall complex|umbilical cord, short|Cyllosomas|LBWC syndrome	http://purl.obolibrary.org/obo/MONDO_0016528	Orphanet:2369|UMLS:C4274839|UMLS:CN201594|http://identifiers.org/snomedct/716106000	ordo_malformation_syndrome|gard_rare
UBERON:0001174	biolink:AnatomicalEntity	common bile duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001174		
MONDO:0016529	biolink:Disease	duplication of urethra	Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating.	GARD:0001975|Orphanet:237|ICD9:753.8|SCTID:69015003	mondo.json	urethral duplication	http://purl.obolibrary.org/obo/MONDO_0016529	Orphanet:237|http://identifiers.org/snomedct/69015003	ordo_morphological_anomaly|gard_rare
UBERON:0001173	biolink:AnatomicalEntity	biliary tree			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001173		
MONDO:0016522	biolink:Disease	Kousseff syndrome	A syndrome characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11.	UMLS:C2931444|MESH:C537223|Orphanet:2351|GARD:0004752|SCTID:726083008	mondo.json	sacral meningocele, conotruncal heart defects, and minor anomalies of head and neck|sacral meningocele-conotruncal heart defects syndrome|sacral meningocele conotruncal heart defects	http://purl.obolibrary.org/obo/MONDO_0016522	UMLS:C2931444|http://identifiers.org/snomedct/726083008|Orphanet:2351|http://identifiers.org/mesh/C537223	ordo_malformation_syndrome
MONDO:0016523	biolink:Disease	bronchogenic cyst	Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum.	MedDRA:10064585|Orphanet:2357|GARD:0001025|HP:0100730|MESH:D001994	mondo.json	bronchogenic cyst|bronchogenic cyst (disease)	http://purl.obolibrary.org/obo/MONDO_0016523	http://identifiers.org/mesh/D001994|Orphanet:2357	ordo_morphological_anomaly
MONDO:0016524	biolink:Disease	congenital vascular bone syndrome	An alteration in limb growth caused by congenital vascular malformations in childhood.	Orphanet:235832	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016524	Orphanet:235832	disease_grouping|ordo_group_of_disorders
UBERON:0001170	biolink:AnatomicalEntity	mesentery of small intestine			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001170		
MONDO:0016525	biolink:Disease	familial hyperaldosteronism	Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol.	Orphanet:371861|UMLS:C3713420|MESH:C580087|UMLS:CN229602|SCTID:703231005|ICD10CM:E26.0|NCIT:C127160|Orphanet:235936|OMIMPS:103900	mondo.json	genetic hyperaldosteronism|hereditary hyperaldosteronism|FH	http://purl.obolibrary.org/obo/MONDO_0016525	UMLS:C3713420|NCIT:C127160|http://identifiers.org/mesh/C580087|https://omim.org/phenotypicSeries/PS103900|http://identifiers.org/snomedct/703231005|Orphanet:235936|Orphanet:371861|UMLS:CN229602	disease_grouping|ordo_group_of_disorders
UBERON:0001179	biolink:AnatomicalEntity	peritoneal cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001179		
MONDO:0016520	biolink:Disease	isolated Klippel-Feil syndrome	Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.	Orphanet:2345	mondo.json	Klippel-Feil sequence|congenital cervical vertebral fusion|congenital fused cervical segments|Klippel-Feil malformation|nonsyndromic Klippel-Feil syndrome	http://purl.obolibrary.org/obo/MONDO_0016520	Orphanet:2345	ordo_malformation_syndrome
MONDO:0016521	biolink:Disease	muscular pseudohypertrophy-hypothyroidism syndrome	Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism.	SCTID:716338001|Orphanet:2349	mondo.json	Kocher-Debré-Semelaigne syndrome|Kocher-Debre-Semelaigne syndrome|Hoffman syndrome	http://purl.obolibrary.org/obo/MONDO_0016521	http://identifiers.org/snomedct/716338001|Orphanet:2349	ordo_disease
UBERON:0001176	biolink:AnatomicalEntity	right hepatic duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001176		
GO:0070013	biolink:NamedThing	intracellular organelle lumen	An organelle lumen that is part of an intracellular organelle.		mondo.json		http://purl.obolibrary.org/obo/GO_0070013		
MONDO:0004529	biolink:Disease	non-ossifying fibromyxoid tumor	A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. Metaplastic bone formation is not present.	NCIT:C6583|DOID:8305|UMLS:C1335063	mondo.json	nonossifying fibromyxoma|nonossifying fibromyxoid neoplasm|nonossifying fibromyxoid tumor	http://purl.obolibrary.org/obo/MONDO_0004529	NCIT:C6583|UMLS:C1335063|DOID:8305	
UBERON:0001175	biolink:AnatomicalEntity	common hepatic duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001175		
GO:0070011	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0070011		
UBERON:0001178	biolink:AnatomicalEntity	visceral peritoneum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001178		
UBERON:0001177	biolink:AnatomicalEntity	left hepatic duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001177		
MONDO:0004548	biolink:Disease	adult type testicular granulosa cell tumor	A rare sex cord-stromal tumor that arises from the testis in adults. Gynecomastia is present in approximately a quarter of the patients. Several morphologic patterns have been identified and include insular, gyriform, trabecular, pseudosarcomatous, and solid. Metastases occur in approximately twenty percent of the cases.	NCIT:C39946|UMLS:C1515284|DOID:8394	mondo.json	adult testicular granulosa cell tumor|adult type testicular granulosa cell tumor	http://purl.obolibrary.org/obo/MONDO_0004548	DOID:8394|NCIT:C39946|UMLS:C1515284	
MONDO:0004547	biolink:Disease	reticular pattern testicular yolk sac tumor	A yolk sac tumor that arises from the testis and is characterized by the presence of a meshwork of small vacuolated cells resulting in a honeycomb appearance.	DOID:8392|NCIT:C39923|UMLS:C1515308	mondo.json	testicular yolk Sac tumor, reticular pattern|testicular yolk Sac tumor, microcystic pattern	http://purl.obolibrary.org/obo/MONDO_0004547	NCIT:C39923|DOID:8392|UMLS:C1515308	
UBERON:0013140	biolink:AnatomicalEntity	systemic vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013140		
MONDO:0004549	biolink:Disease	cork-handlers' disease	An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia.	ICD9:495.3|UMLS:C0152108|DOID:840|SCTID:13394002	mondo.json	cork-handlers' disease or lung|Suberosis|cork worker's lung|cork workers lung|cork-handlers' lung	http://purl.obolibrary.org/obo/MONDO_0004549	http://identifiers.org/snomedct/13394002|DOID:840|UMLS:C0152108	
MONDO:0004544	biolink:Disease	chordoid meningioma	A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma.	EFO:1000176|ONCOTREE:CHOM|UMLS:C1370510|DOID:8368|NCIT:C6908	mondo.json	chordoid meningioma|meningioma, chordoid (morphologic abnormality)|CHOM|meningioma, chordoid	http://purl.obolibrary.org/obo/MONDO_0004544	UMLS:C1370510|NCIT:C6908|DOID:8368	
MONDO:0004543	biolink:Disease	enteric pattern testicular yolk sac tumor	A yolk sac tumor that arises from the testis and is characterized by the presence of immature glands.	NCIT:C39932|DOID:8362|UMLS:C1515304	mondo.json	testicular yolk Sac tumor, enteric pattern	http://purl.obolibrary.org/obo/MONDO_0004543	DOID:8362|NCIT:C39932|UMLS:C1515304	
GO:0045061	biolink:NamedThing	thymic T cell selection	The process of T cell selection that occurs in the thymus.		mondo.json	thymic T-cell selection|thymic T lymphocyte selection|thymic T-lymphocyte selection	http://purl.obolibrary.org/obo/GO_0045061		
MONDO:0004546	biolink:Disease	lumbar plexus neoplasm	A neoplasm (disease) that involves the lumbar nerve plexus.	UMLS:C1334437|DOID:8389|NCIT:C5824	mondo.json	neoplasm of lumbar plexus|lumbar plexus tumor|tumor of lumbar nerve plexus|lumbar plexus neoplasms|lumbar nerve plexus neoplasm (disease)|tumor of the lumbar plexus|neoplasm of lumbar nerve plexus|lumbar nerve plexus tumor|tumor of lumbar plexus|lumbar nerve plexus neoplasm|neoplasm of the lumbar plexus	http://purl.obolibrary.org/obo/MONDO_0004546	DOID:8389|NCIT:C5824|UMLS:C1334437	
MONDO:0004545	biolink:Disease	adult malignant schwannoma	A malignant peripheral nerve sheath tumor occurring during adulthood.	UMLS:C0278622|DOID:8369|NCIT:C7814	mondo.json	adult malignant neurilemmoma|adult malignant neoplasm of the peripheral nerve sheath|adult malignant schwannoma|adult malignant neoplasm of peripheral nerve sheath|adult malignant peripheral nerve sheath tumor|malignant peripheral nerve sheath tumor|adult MPNST|adult malignant peripheral nerve sheath neoplasm|adult malignant tumor of the peripheral nerve sheath|adult malignant tumor of peripheral nerve sheath	http://purl.obolibrary.org/obo/MONDO_0004545	UMLS:C0278622|NCIT:C7814|DOID:8369	
MONDO:0004540	biolink:Disease	epithelioid malignant peripheral nerve sheath tumor	A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells.	NCIT:C6561|DOID:8353|SCTID:404038007|EFO:1000245|UMLS:C1321427	mondo.json	malignant epithelioid neoplasm of the peripheral nerve sheath|malignant epithelioid tumor of the peripheral nerve sheath|malignant epithelioid peripheral nerve sheath neoplasm|malignant epithelioid tumor of peripheral nerve sheath|epithelioid MPNST|malignant epithelioid neoplasm of peripheral nerve sheath|malignant epithelioid peripheral nerve sheath tumor|epithelioid malignant peripheral nerve sheath tumor	http://purl.obolibrary.org/obo/MONDO_0004540	http://identifiers.org/snomedct/404038007|NCIT:C6561|DOID:8353|UMLS:C1321427	
MONDO:0004542	biolink:Disease	cervical adenosquamous carcinoma, glassy cell variant	A poorly differentiated variant of adenosquamous carcinoma that arises from the cervix. It is characterized by the presence of large malignant cells with ground glass cytoplasm and stromal eosinophilic infiltrates.	ONCOTREE:CEGCC|GARD:0008437|ICD10CM:C53.0|DOID:8361|NCIT:C40212|MESH:C536823|Orphanet:213833	mondo.json	glassy cell variant cervical adenosquamous carcinoma|GCC of the cervix|glassy cell carcinoma of the cervix|glassy cell carcinoma of the cervix uteri|cervical adenosquamous carcinoma, glassy cell variant|glassy cell adenocarcinoma of the uterine cervix	http://purl.obolibrary.org/obo/MONDO_0004542	Orphanet:213833|http://identifiers.org/mesh/C536823|DOID:8361|NCIT:C40212	gard_rare|ordo_disease
UBERON:0013149	biolink:AnatomicalEntity	hindbrain vesicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013149		
MONDO:0004541	biolink:Disease	pseudoglandular variant testicular seminoma	A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in pseudoglandular patterns and few lymphocytes.	DOID:8358|UMLS:C1515293|NCIT:C40958	mondo.json	testicular seminoma, pseudoglandular variant	http://purl.obolibrary.org/obo/MONDO_0004541	DOID:8358|UMLS:C1515293|NCIT:C40958	
CHR:9606-chr6p2	biolink:NamedThing	6p2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr6p2		
MONDO:0016508	biolink:Disease	obsolete rare non surgically correctable form of primary aldosteronism		UMLS:CN226947|Orphanet:231641	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016508	Orphanet:231641|UMLS:CN226947	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0016509	biolink:Disease	microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome		Orphanet:231736|UMLS:CN201521|GARD:0010938	mondo.json	microcornea posterior megalolenticonus persistent fetal vasculature coloboma|MPPC syndrome	http://purl.obolibrary.org/obo/MONDO_0016509	UMLS:CN201521|Orphanet:231736	ordo_malformation_syndrome
MONDO:0016515	biolink:Disease	Kallmann syndrome-heart disease syndrome	Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.	Orphanet:2326|UMLS:CN201538	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016515	Orphanet:2326|UMLS:CN201538	ordo_malformation_syndrome
UBERON:0001161	biolink:AnatomicalEntity	body of stomach			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001161		
MONDO:0016516	biolink:Disease	Kenny-Caffey syndrome	A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia.	SCTID:82837002|MESH:C537020|ICD9:759.89|Orphanet:2333|UMLS:C0265291|OMIMPS:127000|NCIT:C130991	mondo.json	Kenny syndrome	http://purl.obolibrary.org/obo/MONDO_0016516	Orphanet:2333|http://identifiers.org/mesh/C537020|UMLS:C0265291|https://omim.org/phenotypicSeries/PS127000|NCIT:C130991|http://identifiers.org/snomedct/82837002	ordo_malformation_syndrome
UBERON:0001160	biolink:AnatomicalEntity	fundus of stomach			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001160		
MONDO:0016517	biolink:Disease	obsolete rare genetic vascular disease	OBSOLETE. Rare genetic vascular disease.	Orphanet:233655|UMLS:CN201558	mondo.json	rare genetic vascular disease	http://purl.obolibrary.org/obo/MONDO_0016517	UMLS:CN201558|Orphanet:233655	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0016518	biolink:Disease	isolated punctate palmoplantar keratoderma	A punctate palmoplantar keratoderma that is not part of a larger syndrome.	Orphanet:2338	mondo.json	isolated punctate palmoplantar hyperkeratosis|isolated punctate PPK|nonsyndromic punctate palmoplantar keratoderma	http://purl.obolibrary.org/obo/MONDO_0016518	Orphanet:2338	disease_grouping|ordo_group_of_disorders
NCBITaxon:9102	biolink:OrganismalEntity	Meleagris		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_9102		
UBERON:0001162	biolink:AnatomicalEntity	cardia of stomach			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001162		
MONDO:0016511	biolink:Disease	infectious embryofetopathy		Orphanet:232035	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016511	Orphanet:232035	ordo_group_of_disorders|disease_grouping
NCBITaxon:9103	biolink:OrganismalEntity	Meleagris gallopavo		GC_ID:1	mondo.json	wild turkey|common turkey|turkey	http://purl.obolibrary.org/obo/NCBITaxon_9103		
MONDO:0016512	biolink:Disease	Kabuki syndrome	Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.	MESH:C537705|UMLS:C0796004|Orphanet:2322|GARD:0006810|NCIT:C124837|DOID:0060473|MedDRA:10063935|OMIMPS:147920|SCTID:313426007	mondo.json	Kabuki make-up syndrome|NKS|Kabuki make up syndrome|KMS|Niikawa-Kuroki syndrome	http://purl.obolibrary.org/obo/MONDO_0016512	Orphanet:2322|http://identifiers.org/mesh/C537705|https://omim.org/phenotypicSeries/PS147920|http://identifiers.org/snomedct/313426007|DOID:0060473|UMLS:C0796004|NCIT:C124837	ordo_malformation_syndrome
GO:0060688	biolink:NamedThing	regulation of morphogenesis of a branching structure	Any process that modulates the rate, frequency, or extent of branching morphogenesis, the process in which the anatomical structures of branches are generated and organized.		mondo.json		http://purl.obolibrary.org/obo/GO_0060688		
MONDO:0016513	biolink:Disease	alpha-thalassemia-related diseases	This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).*	UMLS:CN201534|ICD10CM:D56.0|Orphanet:232288	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016513	UMLS:CN201534|Orphanet:232288	ordo_group_of_disorders|disease_grouping|obsoletion_candidate
GO:0070008	biolink:NamedThing	serine-type exopeptidase activity	Catalysis of the hydrolysis of a peptide bond not more than three residues from the N- or C-terminus of a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine).		mondo.json		http://purl.obolibrary.org/obo/GO_0070008		
MONDO:0016514	biolink:Disease	epidermolysis bullosa simplex with anodontia/hypodontia		Orphanet:2325	mondo.json	Kallin syndrome|Gamborg-Nielsen syndrome	http://purl.obolibrary.org/obo/MONDO_0016514	Orphanet:2325	ordo_malformation_syndrome
GO:0070009	biolink:NamedThing	serine-type aminopeptidase activity	Catalysis of the hydrolysis of a single N-terminal amino acid residue from a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine).		mondo.json		http://purl.obolibrary.org/obo/GO_0070009		
UBERON:0001169	biolink:AnatomicalEntity	wall of large intestine			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001169		
UBERON:0001168	biolink:AnatomicalEntity	wall of small intestine			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001168		
MONDO:0016510	biolink:Disease	epibulbar lipodermoid-preauricular appendage-polythelia syndrome	Epibulbar lipodermoid B preauricular appendages B polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids.	Orphanet:231742|UMLS:CN226948	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016510	Orphanet:231742|UMLS:CN226948	ordo_malformation_syndrome
UBERON:0001165	biolink:AnatomicalEntity	pyloric antrum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001165		
GO:0070003	biolink:NamedThing	threonine-type peptidase activity	Catalysis of the hydrolysis of peptide bonds in a polypeptide chain by a mechanism in which the hydroxyl group of a threonine residue at the active center acts as a nucleophile.		mondo.json		http://purl.obolibrary.org/obo/GO_0070003		
UBERON:0001164	biolink:AnatomicalEntity	greater curvature of stomach			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001164		
UBERON:0001167	biolink:AnatomicalEntity	wall of stomach			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001167		
UBERON:0001166	biolink:AnatomicalEntity	pylorus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001166		
MONDO:0100280	biolink:Disease	Waldenstrom macroglobulinemia		MedDRA:10047801|ICD10CM:C88.0|ONCOTREE:WM|UMLS:C0024419|Orphanet:33226|NCIT:C80307|GARD:0007872|MESH:D008258|DOID:0060901|OMIMPS:153600	mondo.json	Waldenstrom's macroglobulinaemia|Waldenstrom's syndrome|Waldenstroem's macroglobulinemia|lymphoplasmacytic lymphoma with IgM gammopathy|macroglobulinemia of Waldenstrom|Waldenstrom macroglobulinemia|Waldenstrom's macroglobulinemia|Waldenström macroglobulinemia	http://purl.obolibrary.org/obo/MONDO_0100280	https://omim.org/phenotypicSeries/PS153600|NCIT:C80307|http://identifiers.org/mesh/D008258|UMLS:C0024419|http://purl.bioontology.org/ontology/ICD10CM/C88.0|DOID:0060901|Orphanet:33226	ordo_disease
MONDO:0100281	biolink:Disease	macroglobulinemia, Waldenstrom, 1		OMIM:153600	mondo.json	WM1|macroglobulinemia, waldenstrom, susceptibility to, 1|macroglobulinemia, Waldenstrom, somatic	http://purl.obolibrary.org/obo/MONDO_0100281	https://omim.org/entry/153600	predisposition
UBERON:0003849	biolink:AnatomicalEntity	mesencephalic neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003849		
MONDO:0100282	biolink:Disease	SC phocomelia syndrome		DOID:0050536|Orphanet:3103|OMIM:269000	mondo.json	hypomelia hypotrichosis facial hemangioma syndrome	http://purl.obolibrary.org/obo/MONDO_0100282		obsoletion_candidate
MONDO:0100283	biolink:Disease	overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	A disease caused by mosaic gain-of-function (GoF) of several genes in the MTOR pathway (MTOR, PIK3CA, PIK3R2 and AKT3) are functionally the same despite significant phenotypic variability. These GoF variants result in overgrowth due to an over-activation of key genes in this pathway. The phenotypic variability is generally attributed to the mosaic fraction and affected tissue types. For example, macrocephaly is noted if the variant is identified in the brain, but non symmetric overgrowth of that limb is noted when the variant is only present in the affected limb. The pathologies of the affected tissue often reveal similar characteristics such as cellular overgrowth. However, this is not always the case especially with focal cortical dysplasia. At times the characteristics pathologies are not present in the tissue but sampling biases are an issue. FCD resections often involve a very small area and so a very small amount of tissue is available for pathology and it is not guaranteed that lesional tissue is sent. Therefore, having a single disease term which can encompass the phenotypic variability yet provide a unifying molecular diagnosis name makes sense given the common functional mechanism.		mondo.json	overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	http://purl.obolibrary.org/obo/MONDO_0100283		
UBERON:0003847	biolink:AnatomicalEntity	thyroid artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003847		
UBERON:0003848	biolink:AnatomicalEntity	gonadal vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003848		
MONDO:0100284	biolink:Disease	X-linked intellectual disability	An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations.		mondo.json	X-linked intellectual disability	http://purl.obolibrary.org/obo/MONDO_0100284		
MONDO:0100285	biolink:Disease	extrahepatic biliary atresia	A disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow.	UMLS:C4520983|OMIM:210500	mondo.json	biliary atresia, extrahepatic|EHBA	http://purl.obolibrary.org/obo/MONDO_0100285	UMLS:C4520983|https://omim.org/entry/210500	
GO:0008206	biolink:NamedThing	bile acid metabolic process	The chemical reactions and pathways involving bile acids, a group of steroid carboxylic acids occurring in bile, where they are present as the sodium salts of their amides with glycine or taurine.		mondo.json	bile acid metabolism	http://purl.obolibrary.org/obo/GO_0008206		
UBERON:0003845	biolink:AnatomicalEntity	lower eyelid epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003845		
UBERON:0003846	biolink:AnatomicalEntity	thymus epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003846		
MONDO:0100286	biolink:Disease	respiratory syncytial virus bronchiolitis	Bronciolitis caused by infection with respiratory syncytial virus.		mondo.json	RSV bronchiolitis	http://purl.obolibrary.org/obo/MONDO_0100286		
MONDO:0100288	biolink:Disease	enhanced S-cone syndrome	An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration.	MESH:C564835|UMLS:C1849394|OMIM:268100|DOID:0090059|ICD10CM:H35.5|Orphanet:53540	mondo.json	retinoschisis with early nyctalopia|enhanced S-cone syndrome|ESCS	http://purl.obolibrary.org/obo/MONDO_0100288	https://omim.org/entry/268100|DOID:0090059|UMLS:C1849394|http://identifiers.org/mesh/C564835	ordo_disease
GO:0008203	biolink:NamedThing	cholesterol metabolic process	The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues.		mondo.json	cholesterol metabolism	http://purl.obolibrary.org/obo/GO_0008203		
MONDO:0100289	biolink:Disease	Goldmann-Favre syndrome	A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).	Orphanet:53540|ICD10CM:H35.5|SCTID:232065000|GARD:0010781|OMIM:268100	mondo.json	Goldmann-Favre syndrome|retinoschisis with early nyctalopia|Favre hyaloideoretinal Degeneration	http://purl.obolibrary.org/obo/MONDO_0100289	http://identifiers.org/snomedct/232065000|Orphanet:53540	ordo_disease
GO:0008202	biolink:NamedThing	steroid metabolic process	The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus.		mondo.json	steroid metabolism	http://purl.obolibrary.org/obo/GO_0008202		
UBERON:0015834	biolink:AnatomicalEntity	duodenum lamina propria			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015834		
UBERON:0015833	biolink:AnatomicalEntity	foregut epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015833		
GO:0008200	biolink:NamedThing	ion channel inhibitor activity	Binds to and stops, prevents, or reduces the activity of an ion channel.		mondo.json		http://purl.obolibrary.org/obo/GO_0008200		
FOODON:03420174	biolink:NamedThing	obsolete: part of plant	Anatomical part of a plant, such as fruit, seed, pod, leaf, stem or flower as well as the whole plant.		mondo.json		http://purl.obolibrary.org/obo/FOODON_03420174		
FOODON:03420178	biolink:NamedThing	seed part			mondo.json		http://purl.obolibrary.org/obo/FOODON_03420178		
FOODON:03420177	biolink:NamedThing	gluten	Extract, concentrate or isolate high in gluten, the predominant protein of wheat or corn.	http://www.langual.org/langual_thesaurus.asp?termid=C0177	mondo.json		http://purl.obolibrary.org/obo/FOODON_03420177		
UBERON:0003854	biolink:AnatomicalEntity	spinal cord neural plate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003854		
UBERON:0003855	biolink:AnatomicalEntity	gonad mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003855		
UBERON:0003852	biolink:AnatomicalEntity	rhombencephalon neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003852		
UBERON:0003853	biolink:AnatomicalEntity	spinal cord neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003853		
UBERON:0003850	biolink:AnatomicalEntity	telencephalon neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003850		
UBERON:0003851	biolink:AnatomicalEntity	diencephalon neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003851		
MONDO:0100290	biolink:Disease	colon serrated polyposis	The presence of multiple serrated polyps in the colon. The polyps are predominantly sessile serrated adenomas/polyps. A minority of the polyps are microvesicular variants of hyperplastic polyps. According to some authors, the polyps are proximal to the sigmoid colon. According to others, the polyps are distributed throughout the entire colon.	NCIT:C96470|UMLS:C3272797	mondo.json		http://purl.obolibrary.org/obo/MONDO_0100290	UMLS:C3272797|NCIT:C96470	
MONDO:0100291	biolink:Disease	early T cell progenitor acute lymphoblastic leukemia	T acute lymphoblastic leukemia in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation.	UMLS:C4329780|NCIT:C130043	mondo.json	early T acute lymphoblastic leukemia|ETP-ALL|early T-cell precursor lymphoblastic leukemia|ETP ALL|early T-cell precursor acute lymphoblastic leukemia	http://purl.obolibrary.org/obo/MONDO_0100291	UMLS:C4329780|NCIT:C130043	
UBERON:0003838	biolink:AnatomicalEntity	abdominal segment connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003838		
UBERON:0003839	biolink:AnatomicalEntity	forelimb joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003839		
MONDO:0100294	biolink:Disease	mitochondrial complex II deficiency, nuclear type 1	Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers.	ICD9:277.6|OMIM:252011|SCTID:124165006|MESH:C565375|Orphanet:3208|GARD:0005053|DOID:0060537	mondo.json	isolated mitochondrial respiratory chain complex II deficiency|complex 2 mitochondrial respiratory chain deficiency|isolated succinate-coenzyme Q reductase deficiency|mitochondrial respiratory chain complex II deficiency|mitochondrial complex 2 deficiency|succinate CoQ reductase deficiency|succinate dehydrogenase deficiency|mitochondrial complex II deficiency, nuclear type 1|isolated succinate-ubiquinone reductase deficiency|mitochondrial complex II deficiency|isolated succinate-CoQ reductase deficiency	http://purl.obolibrary.org/obo/MONDO_0100294	http://identifiers.org/mesh/C565375|https://omim.org/entry/252011|DOID:0060537|Orphanet:3208|http://identifiers.org/snomedct/124165006	ordo_disease|gard_rare
GO:0008219	biolink:NamedThing	cell death	Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538).		mondo.json	necrosis|accidental cell death	http://purl.obolibrary.org/obo/GO_0008219		
UBERON:0003836	biolink:AnatomicalEntity	abdominal segment skin			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003836		
UBERON:0003837	biolink:AnatomicalEntity	thoracic segment connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003837		
MONDO:0100296	biolink:Disease	Olmsted syndrome 1	Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.	MedDRA:10068842|OMIM:614594|Orphanet:659|UMLS:C2609071|GARD:0004075	mondo.json	mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques|palmoplantar keratoderma, mutilating, with periorificial keratotic plaques|Olmsted syndrome|palmoplantar and periorificial keratoderma	http://purl.obolibrary.org/obo/MONDO_0100296	Orphanet:659|UMLS:C2609071|https://omim.org/entry/614594	gard_rare|ordo_disease
GO:0008217	biolink:NamedThing	regulation of blood pressure	Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure.		mondo.json	blood pressure regulation|control of blood pressure|blood pressure homeostasis	http://purl.obolibrary.org/obo/GO_0008217		
UBERON:0003834	biolink:AnatomicalEntity	thoracic segment blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003834		
MONDO:0100297	biolink:Disease	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1		UMLS:CN807949|OMIM:617877	mondo.json	SSFSC|short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	http://purl.obolibrary.org/obo/MONDO_0100297	UMLS:CN807949|https://omim.org/entry/617877	
UBERON:0003835	biolink:AnatomicalEntity	abdominal segment blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003835		
GO:0008212	biolink:NamedThing	mineralocorticoid metabolic process	The chemical reactions and pathways involving mineralocorticoids, hormonal C21 corticosteroids synthesized from cholesterol. Mineralocorticoids act primarily on water and electrolyte balance.		mondo.json	mineralocorticoid metabolism	http://purl.obolibrary.org/obo/GO_0008212		
GO:0008211	biolink:NamedThing	glucocorticoid metabolic process	The chemical reactions and pathways involving glucocorticoids, hormonal C21 corticosteroids synthesized from cholesterol. Glucocorticoids act primarily on carbohydrate and protein metabolism, and have anti-inflammatory effects.		mondo.json	glucocorticosteroid metabolism|glucocorticosteroid metabolic process|glucocorticoid metabolism	http://purl.obolibrary.org/obo/GO_0008211		
FOODON:03420165	biolink:NamedThing	obsolete: fruit or seed			mondo.json		http://purl.obolibrary.org/obo/FOODON_03420165		
FOODON:03420164	biolink:NamedThing	part of animal	Anatomical part of an animal; includes eggs and milk that, although separated from the animal, are produced as integral parts and are affected by the animal's food intake and metabolism.		mondo.json		http://purl.obolibrary.org/obo/FOODON_03420164		
UBERON:0015814	biolink:AnatomicalEntity	outer ear epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015814		
UBERON:0015813	biolink:AnatomicalEntity	middle ear epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015813		
FOODON:03420167	biolink:NamedThing	fruit part	The fleshy fruit of any plant. *FRUIT* includes vegetables berries and pods as well. The bulk of a fruit is its fleshy part, which is covered by a peel (skin) and which encloses a core, pit or seeds.		mondo.json		http://purl.obolibrary.org/obo/FOODON_03420167		
UBERON:0003843	biolink:AnatomicalEntity	dental epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003843		
UBERON:0003844	biolink:AnatomicalEntity	upper eyelid epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003844		
UBERON:0003841	biolink:AnatomicalEntity	autopod joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003841		
UBERON:0003842	biolink:AnatomicalEntity	neural tube lumen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003842		
UBERON:0003840	biolink:AnatomicalEntity	hindlimb joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003840		
GO:0035809	biolink:NamedThing	regulation of urine volume	Any process that modulates the amount of urine excreted from the body over a unit of time.		mondo.json	regulation of urine flow|regulation of urinary volume	http://purl.obolibrary.org/obo/GO_0035809		
UBERON:0003829	biolink:AnatomicalEntity	urethra muscle tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003829		
UBERON:0003827	biolink:AnatomicalEntity	thoracic segment bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003827		
UBERON:0003828	biolink:AnatomicalEntity	abdominal segment bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003828		
UBERON:0003825	biolink:AnatomicalEntity	nerve of abdominal segment			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003825		
UBERON:0003826	biolink:AnatomicalEntity	upper leg bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003826		
UBERON:0003823	biolink:AnatomicalEntity	hindlimb zeugopod			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003823		
UBERON:0003824	biolink:AnatomicalEntity	nerve of thoracic segment			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003824		
FOODON:03420194	biolink:NamedThing	egg or egg component	Poultry, game bird or turtle eggs.		mondo.json		http://purl.obolibrary.org/obo/FOODON_03420194		
UBERON:0015807	biolink:AnatomicalEntity	ear epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015807		
UBERON:0015808	biolink:AnatomicalEntity	eye epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015808		
UBERON:0003832	biolink:AnatomicalEntity	esophagus muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003832		
UBERON:0003833	biolink:AnatomicalEntity	abdominal segment muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003833		
UBERON:0003830	biolink:AnatomicalEntity	thoracic segment muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003830		
UBERON:0003831	biolink:AnatomicalEntity	respiratory system muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003831		
SO:0000299	biolink:SequenceFeature	specific_recombination_site	A location where recombination or occurs during mitosis or meiosis.		mondo.json	specific recombination site	http://purl.obolibrary.org/obo/SO_0000299		
NCBITaxon:33184	biolink:OrganismalEntity	Onygenaceae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_33184		
SO:0000298	biolink:SequenceFeature	recombination_feature	A feature where there has been exchange of genetic material in the event of mitosis or meiosis		mondo.json	INSDC_feature:misc_recomb|recombination feature|INSDC_qualifier:other	http://purl.obolibrary.org/obo/SO_0000298		
NCBITaxon:33183	biolink:OrganismalEntity	Onygenales		PMID:17486980|GC_ID:1	mondo.json	Gymnoascales|Ascosphaerales|Arachnomycetales	http://purl.obolibrary.org/obo/NCBITaxon_33183		
CHEBI:24473	biolink:ChemicalSubstance	halogen			mondo.json	group 17 elements|halogeno|halogen|halogenos|halogens|halogenes|group VII elements|halogene|Halogene	http://purl.obolibrary.org/obo/CHEBI_24473		
CHEBI:24471	biolink:ChemicalSubstance	halogen molecular entity			mondo.json	halogen molecular entities|halogen compounds|halogen molecular entity	http://purl.obolibrary.org/obo/CHEBI_24471		
CHEBI:61469	biolink:ChemicalSubstance	polyanionic polymer	A polymer, composed of polyanion macromolecules.		mondo.json	polyanions|polyanion	http://purl.obolibrary.org/obo/CHEBI_61469		
UBERON:0003821	biolink:AnatomicalEntity	metapodium bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003821		
UBERON:0003822	biolink:AnatomicalEntity	forelimb stylopod			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003822		
UBERON:0003820	biolink:AnatomicalEntity	prostate bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003820		
UBERON:0015870	biolink:AnatomicalEntity	lymph node of head			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015870		
UBERON:0001228	biolink:AnatomicalEntity	renal papilla			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001228		
UBERON:0003889	biolink:AnatomicalEntity	fallopian tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003889		
UBERON:0001229	biolink:AnatomicalEntity	renal corpuscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001229		
UBERON:0015875	biolink:AnatomicalEntity	heel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015875		
UBERON:0015871	biolink:AnatomicalEntity	facial lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015871		
UBERON:0015873	biolink:AnatomicalEntity	heel skin			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015873		
NCBITaxon:82105	biolink:OrganismalEntity	Cladophialophora		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_82105		
UBERON:0003890	biolink:AnatomicalEntity	Mullerian duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003890		
UBERON:0003891	biolink:AnatomicalEntity	stroma			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003891		
UBERON:0001235	biolink:AnatomicalEntity	adrenal cortex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001235		
UBERON:0003898	biolink:AnatomicalEntity	skeletal muscle tissue of trunk			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003898		
UBERON:0001234	biolink:AnatomicalEntity	left adrenal gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001234		
UBERON:0001236	biolink:AnatomicalEntity	adrenal medulla			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001236		
UBERON:0003897	biolink:AnatomicalEntity	axial muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003897		
UBERON:0003894	biolink:AnatomicalEntity	liver primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003894		
UBERON:0001231	biolink:AnatomicalEntity	nephron tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001231		
UBERON:0001230	biolink:AnatomicalEntity	glomerular capsule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001230		
UBERON:0001233	biolink:AnatomicalEntity	right adrenal gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001233		
UBERON:0001232	biolink:AnatomicalEntity	collecting duct of renal tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001232		
UBERON:0003893	biolink:AnatomicalEntity	capsule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003893		
UBERON:0001217	biolink:AnatomicalEntity	ileal vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001217		
UBERON:0001216	biolink:AnatomicalEntity	jejunal vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001216		
CHEBI:48407	biolink:ChemicalSubstance	antiparkinson drug	A drug used in the treatment of Parkinson's disease.		mondo.json	antiparkinson agent	http://purl.obolibrary.org/obo/CHEBI_48407		
UBERON:0001219	biolink:AnatomicalEntity	ileocolic vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001219		
UBERON:0001218	biolink:AnatomicalEntity	middle colic vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001218		
GO:0045202	biolink:NamedThing	synapse	The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.		mondo.json	synaptic junction|mixed synapse|electrotonic synapse	http://purl.obolibrary.org/obo/GO_0045202		
GO:0047865	biolink:NamedThing	dimethylglycine dehydrogenase activity	Catalysis of the reaction: N,N-dimethylglycine + electron-transfer flavoprotein + H2O = sarcosine + formaldehyde + reduced electron-transfer flavoprotein.		mondo.json	N,N-dimethylglycine:(acceptor) oxidoreductase (demethylating)|N,N-dimethylglycine:acceptor oxidoreductase (demethylating)|N,N-dimethylglycine oxidase activity	http://purl.obolibrary.org/obo/GO_0047865		
UBERON:0015860	biolink:AnatomicalEntity	visceral abdominal lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015860		
FOODON:03420122	biolink:NamedThing	nonmeat part of animal	Bone, feathers, shell, skin or trim fat.		mondo.json		http://purl.obolibrary.org/obo/FOODON_03420122		
UBERON:0003887	biolink:AnatomicalEntity	intraembryonic coelom			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003887		
UBERON:0001224	biolink:AnatomicalEntity	renal pelvis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001224		
UBERON:0001223	biolink:AnatomicalEntity	left ureter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001223		
UBERON:0003885	biolink:AnatomicalEntity	mesometrium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003885		
FOODON:03420127	biolink:NamedThing	animal body or body part	Includes carcass meat, organ meat, and nonmeat parts of animals, as well as the whole animal.		mondo.json		http://purl.obolibrary.org/obo/FOODON_03420127		
UBERON:0001225	biolink:AnatomicalEntity	cortex of kidney			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001225		
UBERON:0003886	biolink:AnatomicalEntity	future coelemic cavity lumen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003886		
UBERON:0001222	biolink:AnatomicalEntity	right ureter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001222		
UBERON:0001209	biolink:AnatomicalEntity	serosa of large intestine			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001209		
GO:1901706	biolink:NamedThing	mesenchymal cell differentiation involved in bone development	The process in which relatively unspecialized cells acquire specialized structural and/or functional features that characterize the mesenchymal cells of bone as it progresses from its formation to the mature state.		mondo.json		http://purl.obolibrary.org/obo/GO_1901706		
UBERON:0001206	biolink:AnatomicalEntity	serosa of small intestine			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001206		
UBERON:0003869	biolink:AnatomicalEntity	presumptive ganglion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003869		
UBERON:0001205	biolink:AnatomicalEntity	submucosa of small intestine			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001205		
UBERON:0003867	biolink:AnatomicalEntity	distal phalanx of pes			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003867		
GO:1901701	biolink:NamedThing	cellular response to oxygen-containing compound	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus.		mondo.json	cellular response to oxygen molecular entity	http://purl.obolibrary.org/obo/GO_1901701		
UBERON:0001208	biolink:AnatomicalEntity	submucosa of large intestine			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001208		
UBERON:0001207	biolink:AnatomicalEntity	mucosa of large intestine			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001207		
UBERON:0003868	biolink:AnatomicalEntity	proximal phalanx of pes			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003868		
GO:1901700	biolink:NamedThing	response to oxygen-containing compound	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus.		mondo.json	response to oxygen molecular entity	http://purl.obolibrary.org/obo/GO_1901700		
GO:0045211	biolink:NamedThing	postsynaptic membrane	A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane.		mondo.json	post-synaptic membrane	http://purl.obolibrary.org/obo/GO_0045211		
GO:0060850	biolink:NamedThing	obsolete regulation of transcription involved in cell fate commitment	OBSOLETE. Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter that contributes to the commitment of a cell to a specific fate.		mondo.json		http://purl.obolibrary.org/obo/GO_0060850		
FOODON:03420155	biolink:NamedThing	obsolete: seed (anatomical part)	The main propagative part of a plant, especially the kernel of a grain or nut. The bulk of the seed is formed by the endosperm, which encloses the germ and is covered by skin (bran).		mondo.json	seed	http://purl.obolibrary.org/obo/FOODON_03420155		
UBERON:0001213	biolink:AnatomicalEntity	intestinal villus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001213		
UBERON:0001212	biolink:AnatomicalEntity	duodenal gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001212		
UBERON:0001215	biolink:AnatomicalEntity	inferior mesenteric vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001215		
CHEBI:24433	biolink:ChemicalSubstance	group	A defined linked collection of atoms or a single atom within a molecular entity.		mondo.json	groupe|Rest|group|Gruppe|grupos|grupo	http://purl.obolibrary.org/obo/CHEBI_24433		
GO:1901716	biolink:NamedThing	negative regulation of gamma-aminobutyric acid catabolic process	Any process that stops, prevents or reduces the frequency, rate or extent of gamma-aminobutyric acid catabolic process.		mondo.json	inhibition of GABA catabolic process|down-regulation of gamma-aminobutyric acid catabolic process|negative regulation of 4-aminobutyrate catabolism|down-regulation of 4-aminobutyrate catabolism|inhibition of 4-aminobutyrate catabolic process|down regulation of gamma-aminobutyric acid catabolism|downregulation of 4-aminobutanoate catabolism|downregulation of 4-aminobutanoate catabolic process|downregulation of gamma-aminobutyric acid breakdown|inhibition of gamma-aminobutyric acid degradation|down regulation of gamma-aminobutyric acid catabolic process|inhibition of 4-aminobutyrate catabolism|negative regulation of 4-aminobutyrate catabolic process|negative regulation of gamma-aminobutyric acid catabolism|down-regulation of gamma-aminobutyric acid catabolism|down-regulation of 4-aminobutyrate catabolic process|inhibition of GABA catabolism|downregulation of GABA catabolic process|down regulation of 4-aminobutanoate catabolic process|inhibition of gamma-aminobutyric acid catabolic process|downregulation of gamma-aminobutyric acid catabolic process|inhibition of 4-aminobutanoate catabolism|negative regulation of gamma-aminobutyric acid degradation|down-regulation of gamma-aminobutyric acid degradation|down regulation of 4-aminobutyrate catabolic process|inhibition of gamma-aminobutyric acid catabolism|negative regulation of GABA catabolism|down-regulation of GABA catabolism|inhibition of gamma-aminobutyric acid breakdown|downregulation of 4-aminobutyrate catabolism|negative regulation of 4-aminobutanoate catabolic process|down-regulation of 4-aminobutanoate catabolic process|down regulation of GABA catabolic process|down regulation of gamma-aminobutyric acid degradation|down regulation of GABA catabolism|negative regulation of 4-aminobutanoate catabolism|down-regulation of 4-aminobutanoate catabolism|downregulation of 4-aminobutyrate catabolic process|down-regulation of gamma-aminobutyric acid breakdown|negative regulation of GABA catabolic process|down-regulation of GABA catabolic process|negative regulation of gamma-aminobutyric acid breakdown|downregulation of gamma-aminobutyric acid catabolism|inhibition of 4-aminobutanoate catabolic process|down regulation of 4-aminobutyrate catabolism|down regulation of 4-aminobutanoate catabolism|downregulation of gamma-aminobutyric acid degradation|down regulation of gamma-aminobutyric acid breakdown|downregulation of GABA catabolism	http://purl.obolibrary.org/obo/GO_1901716		
CHEBI:24432	biolink:ChemicalSubstance	biological role	A role played by the molecular entity or part thereof within a biological context.		mondo.json	biological function	http://purl.obolibrary.org/obo/CHEBI_24432		
GO:1901717	biolink:NamedThing	positive regulation of gamma-aminobutyric acid catabolic process	Any process that activates or increases the frequency, rate or extent of gamma-aminobutyric acid catabolic process.		mondo.json	upregulation of gamma-aminobutyric acid catabolic process|positive regulation of GABA catabolic process|upregulation of 4-aminobutyrate catabolism|positive regulation of 4-aminobutyrate catabolic process|up regulation of gamma-aminobutyric acid degradation|up regulation of GABA catabolism|up regulation of GABA catabolic process|up-regulation of 4-aminobutanoate catabolic process|up-regulation of 4-aminobutanoate catabolism|positive regulation of gamma-aminobutyric acid degradation|activation of gamma-aminobutyric acid catabolism|up-regulation of gamma-aminobutyric acid breakdown|positive regulation of GABA catabolism|upregulation of gamma-aminobutyric acid catabolism|positive regulation of 4-aminobutyrate catabolism|upregulation of 4-aminobutyrate catabolic process|activation of 4-aminobutyrate catabolic process|up-regulation of GABA catabolic process|up regulation of 4-aminobutanoate catabolism|up regulation of 4-aminobutyrate catabolism|up regulation of gamma-aminobutyric acid breakdown|positive regulation of 4-aminobutanoate catabolism|upregulation of gamma-aminobutyric acid degradation|up-regulation of gamma-aminobutyric acid catabolic process|activation of gamma-aminobutyric acid degradation|upregulation of GABA catabolism|positive regulation of gamma-aminobutyric acid breakdown|positive regulation of gamma-aminobutyric acid catabolism|activation of 4-aminobutanoate catabolic process|upregulation of 4-aminobutanoate catabolic process|activation of GABA catabolism|up-regulation of 4-aminobutyrate catabolism|up regulation of gamma-aminobutyric acid catabolism|up regulation of gamma-aminobutyric acid catabolic process|upregulation of 4-aminobutanoate catabolism|activation of GABA catabolic process|up-regulation of 4-aminobutyrate catabolic process|activation of 4-aminobutanoate catabolism|activation of gamma-aminobutyric acid catabolic process|upregulation of GABA catabolic process|upregulation of gamma-aminobutyric acid breakdown|up-regulation of gamma-aminobutyric acid catabolism|positive regulation of 4-aminobutanoate catabolic process|activation of gamma-aminobutyric acid breakdown|up regulation of 4-aminobutyrate catabolic process|up-regulation of gamma-aminobutyric acid degradation|activation of 4-aminobutyrate catabolism|up-regulation of GABA catabolism|up regulation of 4-aminobutanoate catabolic process	http://purl.obolibrary.org/obo/GO_1901717		
CHEBI:24431	biolink:ChemicalSubstance	chemical entity	A chemical entity is a physical entity of interest in chemistry including molecular entities, parts thereof, and chemical substances.		mondo.json	chemical entity	http://purl.obolibrary.org/obo/CHEBI_24431		
UBERON:0003858	biolink:AnatomicalEntity	lower eyelid mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003858		
GO:1901715	biolink:NamedThing	regulation of gamma-aminobutyric acid catabolic process	Any process that modulates the frequency, rate or extent of gamma-aminobutyric acid catabolic process.		mondo.json	regulation of 4-aminobutanoate catabolism|regulation of gamma-aminobutyric acid breakdown|regulation of 4-aminobutanoate catabolic process|regulation of GABA catabolic process|regulation of 4-aminobutyrate catabolic process|regulation of 4-aminobutyrate catabolism|regulation of gamma-aminobutyric acid degradation|regulation of GABA catabolism|regulation of gamma-aminobutyric acid catabolism	http://purl.obolibrary.org/obo/GO_1901715		
UBERON:0003859	biolink:AnatomicalEntity	forelimb mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003859		
UBERON:0003856	biolink:AnatomicalEntity	uncondensed odontogenic mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003856		
UBERON:0003857	biolink:AnatomicalEntity	upper eyelid mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003857		
GO:0060840	biolink:NamedThing	artery development	The progression of the artery over time, from its initial formation to the mature structure. An artery is a blood vessel that carries blood away from the heart to a capillary bed.		mondo.json		http://purl.obolibrary.org/obo/GO_0060840		
GO:0060841	biolink:NamedThing	venous blood vessel development	The progression of the venous blood vessel over time from its initial formation to the mature structure. Venous blood vessels carry blood back to the heart after the capillary bed.		mondo.json		http://purl.obolibrary.org/obo/GO_0060841		
GO:0045229	biolink:NamedThing	external encapsulating structure organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of external structures that lie outside the plasma membrane and surround the entire cell.		mondo.json	external encapsulating structure organization and biogenesis|external encapsulating structure organisation	http://purl.obolibrary.org/obo/GO_0045229		
FOODON:03420144	biolink:NamedThing	plant above surface, excluding fruit and seed			mondo.json		http://purl.obolibrary.org/obo/FOODON_03420144		
UBERON:0001202	biolink:AnatomicalEntity	pyloric sphincter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001202		
UBERON:0003865	biolink:AnatomicalEntity	distal phalanx of manus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003865		
UBERON:0003866	biolink:AnatomicalEntity	middle phalanx of pes			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003866		
UBERON:0001201	biolink:AnatomicalEntity	serosa of stomach			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001201		
UBERON:0003863	biolink:AnatomicalEntity	pedal digit 5 phalanx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003863		
UBERON:0001204	biolink:AnatomicalEntity	mucosa of small intestine			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001204		
FOODON:03420148	biolink:NamedThing	root, stem, leaf or flower	The parts of a plant that are not fruit or seed.		mondo.json		http://purl.obolibrary.org/obo/FOODON_03420148		
UBERON:0003864	biolink:AnatomicalEntity	middle phalanx of manus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003864		
UBERON:0003861	biolink:AnatomicalEntity	neural arch			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003861		
UBERON:0001200	biolink:AnatomicalEntity	submucosa of stomach			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001200		
UBERON:4200172	biolink:AnatomicalEntity	neck of humerus			mondo.json		http://purl.obolibrary.org/obo/UBERON_4200172		
UBERON:0003860	biolink:AnatomicalEntity	hindlimb mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003860		
GO:0008289	biolink:NamedThing	lipid binding	Binding to a lipid.		mondo.json		http://purl.obolibrary.org/obo/GO_0008289		
MONDO:0100203	biolink:Disease	parainfluenza virus type 1 infectious disease	A disease caused by infection with parainfluenza virus type 1.	OMOP:4248511	mondo.json	parainfluenza 1 infection|infection due to human parainfluenza virus 1|human respirovirus 1 infectious disease|infection caused by human parainfluenza virus 1	http://purl.obolibrary.org/obo/MONDO_0100203		
PATO:0001857	biolink:NamedThing	concave	A shape quality in a bearer by virtue of the bearer's curving inward.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001857		
MONDO:0100204	biolink:Disease	parainfluenza virus type 2 infectious disease	A disease caused by infection with parainfluenza virus type 2.	OMOP:4289924	mondo.json	infection caused by human parainfluenza virus 2|human rubulavirus 2 infectious disease|infection due to human parainfluenza virus 2	http://purl.obolibrary.org/obo/MONDO_0100204		
MONDO:0100205	biolink:Disease	parainfluenza virus type 4 infectious disease	A disease caused by infection with parainfluenza virus type 4.	OMOP:4288743	mondo.json	infection due to human parainfluenza virus 4|infection due to parainfluenza virus 4|human rubulavirus 4 infectious disease|infection caused by human parainfluenza virus 4|infection caused by parainfluenza virus 4	http://purl.obolibrary.org/obo/MONDO_0100205		
GO:0008285	biolink:NamedThing	negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.		mondo.json	downregulation of cell proliferation|down regulation of cell proliferation|inhibition of cell proliferation|down-regulation of cell proliferation|negative regulation of cell proliferation	http://purl.obolibrary.org/obo/GO_0008285		
GO:0033240	biolink:NamedThing	positive regulation of cellular amine metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amines.		mondo.json	positive regulation of amine metabolism	http://purl.obolibrary.org/obo/GO_0033240		
OBO:MAXO_0000058	biolink:NamedThing	pharmacotherapy	Use of a substance introduced into a living organism with therapeutic or diagnostic purpose.		mondo.json	treatment with drug|pharmaceutical drug|pharmaceutical treatment|drug therapy|drug treatment|pharmacological treatment|medication therapy	http://purl.obolibrary.org/obo/MAXO_0000058		
GO:0033239	biolink:NamedThing	negative regulation of cellular amine metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amines.		mondo.json	negative regulation of amine metabolism	http://purl.obolibrary.org/obo/GO_0033239		
GO:0033238	biolink:NamedThing	regulation of cellular amine metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform amines.		mondo.json	regulation of amine metabolism	http://purl.obolibrary.org/obo/GO_0033238		
MONDO:0100210	biolink:Disease	growth hormone insensitivity syndrome with immune dysregulation		OMIMPS:245590	mondo.json		http://purl.obolibrary.org/obo/MONDO_0100210	https://omim.org/phenotypicSeries/PS245590	
MONDO:0100211	biolink:Disease	growth hormone insensitivity with immune dysregulation 1, autosomal recessive		UMLS:C1855548|Orphanet:220465|SCTID:724179008|OMIM:245590|MESH:C537871|UMLS:C4510411	mondo.json	growth hormone insensitivity with immunodeficiency|Laron syndrome with immunodeficiency|short stature due to STAT5b deficiency|growth hormone insensitivity due to postreceptor defect|Laron syndrome due to postreceptor defect|Laron-like syndrome	http://purl.obolibrary.org/obo/MONDO_0100211	http://identifiers.org/snomedct/724179008|http://identifiers.org/mesh/C537871|UMLS:C1855548|UMLS:C4510411|Orphanet:220465|https://omim.org/entry/245590	ordo_disease
MONDO:0100212	biolink:Disease	IFAP syndrome		OMIMPS:308205	mondo.json		http://purl.obolibrary.org/obo/MONDO_0100212	https://omim.org/phenotypicSeries/PS308205	
MONDO:0100213	biolink:Disease	IFAP syndrome with or without BRESHECK syndrome	An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome.	GARD:0002952|OMIM:308205|MESH:C536085|UMLS:C1839988|Orphanet:2273	mondo.json	IFAP syndrome|ichthyosis follicularis atrichia photophobia syndrome|ichthyosis follicularis-alopecia-photophobia syndrome|IFAP syndrome with or without BRESHECK syndrome, X-linked recessive|ichthyosis follicularis-atrichia-photophobia syndrome|IFAP/BRESHECK syndrome|IFAP syndrome with or without BRESHECK syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, Ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia	http://purl.obolibrary.org/obo/MONDO_0100213	http://identifiers.org/mesh/C536085|UMLS:C1839988|https://omim.org/entry/308205|Orphanet:2273	ordo_disease
PATO:0001863	biolink:NamedThing	chronic	A duration quality of a process inhering in a bearer by virtue of the bearer's having slow progressive course of indefinite duration.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001863		
MONDO:0100214	biolink:Disease	Rajab interstitial lung disease with brain calcifications		OMIMPS:613658	mondo.json		http://purl.obolibrary.org/obo/MONDO_0100214	https://omim.org/phenotypicSeries/PS613658	
MONDO:0100215	biolink:Disease	Rajab interstitial lung disease with brain calcifications 1		OMIM:613658|UMLS:CN248515|SCTID:720576001|OMIM:618007|Orphanet:178506|UMLS:C3150910	mondo.json	NEDBLLA|brain calcification, Rajab type|neurodevelopmental disorder with brain, liver, and lung abnormalities|Rajab syndrome|developmental delay, small stature, microcephaly, and brain calcifications	http://purl.obolibrary.org/obo/MONDO_0100215	Orphanet:178506|UMLS:CN248515|UMLS:C3150910|https://omim.org/entry/613658|http://identifiers.org/snomedct/720576001	ordo_disease
MONDO:0100209	biolink:Disease	X inactivation, familial skewed			mondo.json		http://purl.obolibrary.org/obo/MONDO_0100209		
HP:0007556	biolink:PhenotypicFeature	Plantar hyperkeratosis	Hyperkeratosis affecting the sole of the foot.	UMLS:C1856954	mondo.json	Plantar hyperkeratoses	http://purl.obolibrary.org/obo/HP_0007556		
GO:0035898	biolink:NamedThing	parathyroid hormone secretion	The regulated release of parathyroid hormone into the circulatory system.		mondo.json	PTH secretion|parathyrin secretion|parathormone secretion	http://purl.obolibrary.org/obo/GO_0035898		
HP:0007550	biolink:PhenotypicFeature	Hypohidrosis or hyperhidrosis		UMLS:C4021831	mondo.json	Lack of sweating or excessive sweating	http://purl.obolibrary.org/obo/HP_0007550		
MONDO:0100220	biolink:Disease	Rajab interstitial lung disease with brain calcifications 2		OMIM:619013	mondo.json	RILDBC2|RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2	http://purl.obolibrary.org/obo/MONDO_0100220	https://omim.org/entry/619013	
MONDO:0100221	biolink:Disease	IFAP syndrome 2		OMIM:619016	mondo.json	IFAP2|ichthyosis , follicular, with atrichia and photophobia syndrome 2|IFAP SYNDROME 2|ichthyosis follicularis, atrichia, and photophobia syndrome 2	http://purl.obolibrary.org/obo/MONDO_0100221	https://omim.org/entry/619016	
MONDO:0100222	biolink:Disease	A20 haploinsufficiency	Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene.		mondo.json	HA20	http://purl.obolibrary.org/obo/MONDO_0100222		
PATO:0001873	biolink:NamedThing	cylindrical	A convex 3-D shape quality inhering in a bearer by virtue of the bearer's exhibiting a consistently-sized round cross section.		mondo.json	tubulate|rod-like|rod-shaped	http://purl.obolibrary.org/obo/PATO_0001873		
MONDO:0100223	biolink:Disease	mitochondrial complex I deficiency, nuclear type		OMIMPS:252010	mondo.json		http://purl.obolibrary.org/obo/MONDO_0100223	https://omim.org/phenotypicSeries/PS252010	
MONDO:0100224	biolink:Disease	mitochondrial complex I deficiency, nuclear type 1		GARD:0003908|OMIM:252010|UMLS:C1838979	mondo.json	NADH-coenzyme Q reductase deficiency|NADH:Q(1) oxidoreductase deficiency|mitochondrial NADH dehydrogenase component of Complex I, deficiency of|mitochondrial complex I deficiency, nuclear type 1|MC1DN1|mitochondrial complex 1 deficiency|mitochondrial complex I deficiency	http://purl.obolibrary.org/obo/MONDO_0100224	https://omim.org/entry/252010|UMLS:C1838979	
PATO:0001874	biolink:NamedThing	discoid	A shape quality inhering in a bearer by virtue of the bearer's being cylindrical, in which the height is less than the diameter.		mondo.json	disc-shaped|disk-shaped	http://purl.obolibrary.org/obo/PATO_0001874		
MONDO:0100225	biolink:Disease	collagen 6-related myopathy	A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other.		mondo.json	collagen 6-related myopathy|collagen VI-related myopathy|collagen VI-related muscular dystrophy|collagen VI-related muscle disorder	http://purl.obolibrary.org/obo/MONDO_0100225		
MONDO:0100226	biolink:Disease	parasomnia, sleepwalking type	A disorder in which a series of complex behaviors are initiated during slow-wave (non-REM) sleep and result in walking during sleep. It is a parasomnia, defined as a clinical disorder resulting in undesirable physical phenomena that occur predominantly during sleep. Parasomnias are not abnormalities of the processes responsible for sleep and wake states. Sleepwalking is more common in childhood (up to 26%), and usually resolves in adolescence; however, it can persist into adulthood (3%).	MESH:D013009|OMIM:613938	mondo.json	parasomnia, sleepwalking type|parasomnia, sleep terrors type|PSMNSW|somnambulism|sleep walking|sleep walking disorder|sleepwalking disorder|parasomnia, sleepwalking type, multifactorial	http://purl.obolibrary.org/obo/MONDO_0100226	http://identifiers.org/mesh/D013009|https://omim.org/entry/613938	
MONDO:0100228	biolink:Disease	LAMA2-related muscular dystrophy	Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene.		mondo.json	LAMA2-related muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0100228		
MONDO:0100218	biolink:Disease	arthrogryposis multiplex congenita 5		OMIM:618947	mondo.json	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5|AMC5	http://purl.obolibrary.org/obo/MONDO_0100218	https://omim.org/entry/618947	
MONDO:0100219	biolink:Disease	growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant		OMIM:618985	mondo.json	growth hormone insensitivity with immune dysregulation 2, autosomal dominant|GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT|GHISID2	http://purl.obolibrary.org/obo/MONDO_0100219	https://omim.org/entry/618985	
MONDO:0016390	biolink:Disease	familial hypoparathyroidism	A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects.	MESH:C537156|DOID:0111387|UMLS:C1832648|SCTID:725036000|Orphanet:2238|GARD:0002910|OMIMPS:146200	mondo.json	hypoparathyroidism familial isolated|hypoparathyroidism, familial|hypoparathyroidism, familial isolated|FIH|familial isolated hypoparathyroidism	http://purl.obolibrary.org/obo/MONDO_0016390	http://identifiers.org/snomedct/725036000|Orphanet:2238|http://identifiers.org/mesh/C537156|UMLS:C1832648|DOID:0111387|https://omim.org/phenotypicSeries/PS146200	ordo_disease
MONDO:0016391	biolink:Disease	neonatal diabetes mellitus	Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life.	SCTID:49817004|ICD10CM:P70.2|DOID:11717|MedDRA:10028933|NCIT:C99248|ICD9:775.1|UMLS:C0158981|Orphanet:224	mondo.json	congenital diabetes mellitus|diabetes mellitus syndrome in newborn infant|NDM	http://purl.obolibrary.org/obo/MONDO_0016391	DOID:11717|Orphanet:224|UMLS:C0158981|NCIT:C99248|http://purl.bioontology.org/ontology/ICD10CM/P70.2|http://identifiers.org/snomedct/49817004	ordo_group_of_disorders|disease_grouping
MONDO:0016392	biolink:Disease	cerebellar hypoplasia-tapetoretinal degeneration syndrome	Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.	GARD:0001196|OMIM:213000|DOID:0070339|Orphanet:2246	mondo.json	cerebellar hypoplasia tapetoretinal degeneration	http://purl.obolibrary.org/obo/MONDO_0016392	DOID:0070339|Orphanet:2246	ordo_malformation_syndrome|gard_rare
MONDO:0100230	biolink:Disease	fatty acyl-CoA reductase 1 dysregulation	A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids.		mondo.json	fatty acyl-CoA reductase 1 dysregulation|FAR1 dysregulation	http://purl.obolibrary.org/obo/MONDO_0100230		
MONDO:0100231	biolink:Disease	psoriatic arthritis, susceptibility to, 1	A susceptibility or predisposition to psoriatic arthritis, in which the cause of the disease is a mutation in the LTA gene. Psoriatic arthritis affects more than 10% of patients with psoriasis and, in most cases, there is an association between the severity of the arthritis and the skin involvement.	OMIM:607507	mondo.json	psoriatic arthritis, susceptibility to|psoriatic arthritis, susceptibility to, 1|psoriatic arthritis susceptibility caused by LTA	http://purl.obolibrary.org/obo/MONDO_0100231	https://omim.org/entry/607507	
MONDO:0100232	biolink:Disease	psoriatic arthritis, susceptibility to	An inherited susceptibility or predisposition to developing psoriatic arthritis.		mondo.json	psoriatic arthritis, susceptibility|psoriatic arthritis, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0100232		
MONDO:0100233	biolink:Disease	long COVID-19	A chronic disease triggered by acute COVID-19 infection that is characterized by persistent symptoms following the acute phase of the SARS-CoV-2 infection, which may include fatigue, coughing, dyspnea, clouding of mentation, sleep disturbances, exercise intolerance and autonomic symptoms including tachycardia upon mild exercise or standing, night sweats, temperature dysregulation, gastroparesis, constipation or loose stools, and peripheral vasoconstriction.		mondo.json	post-acute sequelae of COVID-19|post-acute sequelae of SARS-CoV-2 infection|long-haul COVID-19|PASC|long haul COVID-19|sequelae of COVID-19	http://purl.obolibrary.org/obo/MONDO_0100233		
MONDO:0100234	biolink:Disease	paroxysmal familial ventricular fibrillation	A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.	GARD:0004227|Orphanet:228140	mondo.json	idiopathic ventricular fibrillation, non Brugada type|idiopathic ventricular fibrillation|paroxysmal familial ventricular fibrillation (disorder)|paroxysmal ventricular fibrillation|IVF|ventricular fibrillation, paroxysmal familial|paroxysmal familial ventricular fibrillation	http://purl.obolibrary.org/obo/MONDO_0100234	Orphanet:228140	
MONDO:0100237	biolink:Disease	inherited cutis laxa	An instance of cutis laxa that is inherited.	OMIMPS:123700	mondo.json	hereditary cutis laxa	http://purl.obolibrary.org/obo/MONDO_0100237	https://omim.org/phenotypicSeries/PS123700	
MONDO:0100238	biolink:Disease	inherited Fanconi renotubular syndrome	An instance of Fanconi renotubular syndrome that is inherited.	OMIMPS:134600	mondo.json	hereditary Fanconi renotubular syndrome	http://purl.obolibrary.org/obo/MONDO_0100238	https://omim.org/phenotypicSeries/PS134600	
MONDO:0100239	biolink:Disease	inherited hypertrophic pyloric stenosis	An instance of hypertrophic pyloric stenosis that is inherited.	OMIMPS:179010	mondo.json	hereditary hypertrophic pyloric stenosis	http://purl.obolibrary.org/obo/MONDO_0100239	https://omim.org/phenotypicSeries/PS179010	
NCBITaxon:1206795	biolink:OrganismalEntity	Lophotrochozoa		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1206795		
MONDO:0100229	biolink:Disease	obsolete Heimler syndrome	OBSOLETE. A peroxisoome biogenesis disorder characterised by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, nail abnormalities and occasional or late-onset retinal pigmentation abnormalities, in which the cause of the disease is a mutation in peroxisomal biogenesis factor 1 (PEX1) or peroxisomal biogenesis factor 6 (PEX6) genes.	MESH:C535994|UMLS:C1856186|SCTID:721085000|GARD:0001687|Orphanet:3220	mondo.json	sensorineural hearing loss, enamel hypoplasia, and nail abnormalities|bilateral sensorineural hearing loss, enamel hypoplasia and nail defects|deafness-enamel hypoplasia-nail defects syndrome|Heimler syndrome|deafness enamel hypoplasia nail defects	http://purl.obolibrary.org/obo/MONDO_0100229	UMLS:C1856186|http://identifiers.org/snomedct/721085000|http://identifiers.org/mesh/C535994|Orphanet:3220	ordo_malformation_syndrome
GO:0008284	biolink:NamedThing	positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.		mondo.json	activation of cell proliferation|up-regulation of cell proliferation|positive regulation of cell proliferation|upregulation of cell proliferation|stimulation of cell proliferation|up regulation of cell proliferation	http://purl.obolibrary.org/obo/GO_0008284		
NCBITaxon:1206794	biolink:OrganismalEntity	Ecdysozoa		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1206794		
GO:0008283	biolink:NamedThing	cell population proliferation	The multiplication or reproduction of cells, resulting in the expansion of a cell population.		mondo.json	cell proliferation	http://purl.obolibrary.org/obo/GO_0008283		
MONDO:0016397	biolink:Disease	obsolete lysosomal disease with epilepsy		Orphanet:225681|UMLS:CN201328	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016397	UMLS:CN201328|Orphanet:225681	ordo_group_of_disorders
MONDO:0016398	biolink:Disease	obsolete peroxisomal disease with epilepsy		UMLS:CN201329|Orphanet:225686	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016398	UMLS:CN201329|Orphanet:225686	ordo_group_of_disorders
MONDO:0016399	biolink:Disease	obsolete amino acid or protein metabolism disease with epilepsy		Orphanet:225689|UMLS:CN201330	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016399	UMLS:CN201330|Orphanet:225689	ordo_group_of_disorders
MONDO:0016393	biolink:Disease	hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.	Orphanet:2250|UMLS:CN201299	mondo.json	Bosma-Henkin-Christiansen syndrome|Bosma arhinia-microphthalmia syndrome	http://purl.obolibrary.org/obo/MONDO_0016393	Orphanet:2250|UMLS:CN201299	ordo_disease
MONDO:0016394	biolink:Disease	sporadic infantile bilateral striatal necrosis	Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.	ICD10CM:G23.2|Orphanet:225147	mondo.json	sporadic infantile striatonigral degeneration|ABSN|sporadic IBSN|sporadic infantile striatonigral necrosis|acute bilateral striatal necrosis	http://purl.obolibrary.org/obo/MONDO_0016394	Orphanet:225147	ordo_clinical_subtype
MONDO:0016395	biolink:Disease	foveal hypoplasia-presenile cataract syndrome		Orphanet:2253|OMIM:136520|MESH:C537858|UMLS:C2931644	mondo.json	O'Donnell-Pappas syndrome	http://purl.obolibrary.org/obo/MONDO_0016395	UMLS:C2931644|Orphanet:2253|http://identifiers.org/mesh/C537858	ordo_disease
MONDO:0016396	biolink:Disease	pontocerebellar hypoplasia type 1	Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death.	Orphanet:2254|MESH:C548069|GARD:0010704|UMLS:C1843504|SCTID:718610008	mondo.json	mental retardation, autosomal recessive 32|PCH1|MRT32|Norman disease	http://purl.obolibrary.org/obo/MONDO_0016396	Orphanet:2254|http://identifiers.org/mesh/C548069|UMLS:C1843504|http://identifiers.org/snomedct/718610008	ordo_malformation_syndrome
MONDO:0100240	biolink:Disease	inherited thrombophilia	An instance of thrombophilia that is inherited.	OMIMPS:188050	mondo.json	hereditary hypercoagulable disorder|hereditary thrombophilia|thrombophilia, hereditary	http://purl.obolibrary.org/obo/MONDO_0100240	https://omim.org/phenotypicSeries/PS188050	
MONDO:0100241	biolink:Disease	inherited thrombocytopenia	An instance of thrombocytopenia that is inherited.	OMIMPS:313900	mondo.json	hereditary thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0100241	https://omim.org/phenotypicSeries/PS313900	
MONDO:0100242	biolink:Disease	glioma susceptibility	An inherited susceptibility or predisposition to developing glioma.	OMIMPS:137800	mondo.json	glioma, susceptibility|glioma, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0100242	https://omim.org/phenotypicSeries/PS137800	
MONDO:0100243	biolink:Disease	obsolete inherited paroxysmal nocturnal hemoglobinuria			mondo.json		http://purl.obolibrary.org/obo/MONDO_0100243		
MONDO:0100244	biolink:Disease	paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.	Orphanet:447|OMIMPS:300818|GARD:0007337|SCTID:1963002|SCTID:127057004|MedDRA:10034042|DOID:0060284|HGNC:8957|NCIT:C61233|HP:0004818|UMLS:C0024790	mondo.json	hereditary paroxysmal nocturnal hemoglobinuria|PNH|acquired paroxysmal nocturnal hemoglobinuria|inherited paroxysmal nocturnal hemoglobinuria|paroxysmal hemoglobinuria|Marchiafava-Micheli disease	http://purl.obolibrary.org/obo/MONDO_0100244	UMLS:C0024790|NCIT:C61233|DOID:0060284|https://omim.org/phenotypicSeries/PS300818|http://identifiers.org/snomedct/1963002|Orphanet:447	ordo_disease|gard_rare
MONDO:0100245	biolink:Disease	obsolete acquired paroxysmal nocturnal hemoglobinuria			mondo.json		http://purl.obolibrary.org/obo/MONDO_0100245		
MONDO:0100246	biolink:Disease	migraine with or without aura, susceptibility to	An inherited susceptibility or predisposition to developing migraines with or without aura.	OMIMPS:157300	mondo.json	migraine with or without aura, susceptibility to|migraine with or without aura, susceptibility	http://purl.obolibrary.org/obo/MONDO_0100246	https://omim.org/phenotypicSeries/PS157300	
MONDO:0100247	biolink:Disease	multiple congenital anomalies-hypotonia-seizures syndrome		OMIMPS:614080	mondo.json		http://purl.obolibrary.org/obo/MONDO_0100247	https://omim.org/phenotypicSeries/PS614080	
MONDO:0100248	biolink:Disease	rapidly progressive primary central nervous system vasculitis	A subset of primary central nervous system vasculitis where disease is rapidly progressive after onset that is characterized by bilateral, multiple, large cerebral vessel lesions and multiple CNS infarctions.		mondo.json	rapidly progressive PCNSV	http://purl.obolibrary.org/obo/MONDO_0100248		
MONDO:0100249	biolink:Disease	46,XX testicular disorder of sex development	46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.	UMLS:C2748895|GARD:0000399|Orphanet:393|UMLS:CN205000|NCIT:C127170|DOID:0111760|UMLS:C2936419|MESH:D058531	mondo.json	XX sex reversal|46,XX testicular disorders of Sex development|46,XX testicular disorder of sex development|46,XX testicular differences of sex development|XX male syndrome|De la Chapelle syndrome|XX, male syndrome|46,XX testicular DSD|46, XX gonadal sex reversal|XX Male, Sry-positive	http://purl.obolibrary.org/obo/MONDO_0100249	Orphanet:393|NCIT:C127170|DOID:0111760|UMLS:CN205000|http://identifiers.org/mesh/D058531|UMLS:C2936419	ordo_malformation_syndrome
GO:0008242	biolink:NamedThing	omega peptidase activity	Catalysis of the cleavage of non-standard peptide bonds releasing substituted amino acids such as pyroglutamate or cleave isopeptide bonds, such as many deubiquitinating enzymes.		mondo.json	peptidase activity, acting on peptides containing modified amino acids	http://purl.obolibrary.org/obo/GO_0008242		
HGNC:28472	biolink:NamedThing	TMEM43			mondo.json		http://identifiers.org/hgnc/28472		
HGNC:16499	biolink:NamedThing	RAB39B			mondo.json		http://identifiers.org/hgnc/16499		
MONDO:0100250	biolink:Disease	46,XX sex reversal 1		OMIM:400045	mondo.json	46,XX gonadal dysgenesis, complete, SRY-positive|46,XX SEX reversal 1|ovotesticular disorder of sex development|46XX sex reversal 1, X-linked dominant|46,XX true hermaphroditism, SRY-positive|ovotesticular DSD|SRXX1|46,XX Sex reversal type 1|46,XX Sex reversal, SRY-positive	http://purl.obolibrary.org/obo/MONDO_0100250	https://omim.org/entry/400045	
MONDO:0100251	biolink:Disease	familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome		NCIT:C131851|UMLS:C1876187|GARD:0010879|Orphanet:306661|DOID:0111063	mondo.json	hyperostosis with hyperphosphatemia|HHS|tumoral calcinosis, hyperphosphatemic, familial, 1|hyperphosphatemia hyperostosis|PHPTC|familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome|hyperphosphatemic familial tumoral calcinosis|morbus Teutschlaender|hyperphosphatemia tumoral calcinosis|tumoral calcinosis with hyperphosphatemia|cortical hyperostosis with hyperphosphatemia|hypercalcemic tumoral calcinosis|familial Teutschlaender disease|lipocalcinogranulomatosis|HFTC|primary hyperphosphatemic tumoral calcinosis|hyperphosphatemia hyperostosis syndrome	http://purl.obolibrary.org/obo/MONDO_0100251	UMLS:C1876187|Orphanet:306661|DOID:0111063|NCIT:C131851	ordo_clinical_subtype
OBO:MAXO_0000014	biolink:NamedThing	radiation therapy	Treatment of a disease by means of exposure of the target or the whole body to radiation. Radiation therapy is often used as part of curative therapy and occasionally as a component of palliative treatment for cancer. Other uses include total body irradiation prior to transplantation.		mondo.json	RT|radiation|radiotherapeutics|radiotherapy|radiation therapy procedure	http://purl.obolibrary.org/obo/MAXO_0000014		
MONDO:0100252	biolink:Disease	tumoral calcinosis, hyperphosphatemic, familial, 1		OMIM:211900	mondo.json	HFTC|tumoral calcinosis, Hyperphosphatemic, familial, 1|tumoral calcinosis, HYPERPHOSPHATEMIC, familial, 1|tumoral calcinosis, primary Hyperphosphatemic|tumoral calcinosis, hyperphosphatemic, familial, 1|tumoral calcinosis, hyperphosphatemic, familial|calcinosis, tumoral, with hyperphosphatemia|Morbus Teutschlaender|HFTC1|Teutschlaender disease, familial|hyperostosis-hyperphosphatemia syndrome	http://purl.obolibrary.org/obo/MONDO_0100252	https://omim.org/entry/211900	
MONDO:0100253	biolink:Disease	Roberts-SC phocomelia syndrome	A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities.	OMIM:268300|NCIT:C4681	mondo.json	pseudothalidomide syndrome|long bone deficiencies associated with cleft lip-palate|Roberts-SC phocomelia syndrome|RBS|phocomelia-pseudothalidomide syndrome	http://purl.obolibrary.org/obo/MONDO_0100253	NCIT:C4681|https://omim.org/entry/268300	
MONDO:0100255	biolink:Disease	adenosine kinase deficiency	A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.	DOID:0111038|OMIM:614300|Orphanet:289290|OMIM:611094|UMLS:C3280381|UMLS:C1970196|MESH:C567015	mondo.json	mental retardation, autosomal recessive 8; MRT8|hypermethioninemia encephalopathy due to ADK deficiency|mental retardation, autosomal recessive 8|hypermethioninemia due to adenosine kinase deficiency|MRT8|autosomal recessive intellectual disability 8|ADK deficiency|adenosine kinase deficiency|mental retardation, autosomal recessive 8, formerly|autosomal recessive mental retardation 8|hypermethioninemia encephalopathy due to adenosine kinase deficiency|ADK hypermethioninemia	http://purl.obolibrary.org/obo/MONDO_0100255	Orphanet:289290|https://omim.org/entry/614300|https://omim.org/entry/611094|UMLS:C1970196|http://identifiers.org/mesh/C567015|DOID:0111038	ordo_disease
MONDO:0100257	biolink:Disease	peroxisomal single enzyme/protein defect	Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein.		mondo.json	peroxisomal single enzyme/protein defect	http://purl.obolibrary.org/obo/MONDO_0100257		
NCBITaxon:118882	biolink:OrganismalEntity	Brucellaceae		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_118882		
MONDO:0100258	biolink:Disease	phytanoyl-CoA hydroxylase deficiency	Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene.		mondo.json	phytanoyl-CoA hydroxylase deficiency|PHYH deficiency|PHYH related disorder of peroxisomal alpha oxidation	http://purl.obolibrary.org/obo/MONDO_0100258		
PATO:0001824	biolink:NamedThing	dry	A wetness quality inhering in a bearer by virtue of the bearer's not being covered by a liquid.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001824		
MONDO:0100259	biolink:Disease	peroxisome biogenesis disorder due to PEX1 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.		mondo.json	peroxisome biogenesis disorder due to PEX1 defect|PEX1 related Zellweger spectrum disorder	http://purl.obolibrary.org/obo/MONDO_0100259		disease_grouping
HGNC:28486	biolink:NamedThing	MFSD8			mondo.json		http://identifiers.org/hgnc/28486		
PATO:0001822	biolink:NamedThing	wetness	A quality inhering in a bearer by virtue of whether the bearer's being covered by a liquid.		mondo.json		http://purl.obolibrary.org/obo/PATO_0001822		
MONDO:0100260	biolink:Disease	peroxisome biogenesis disorder due to PEX2 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX2 gene.		mondo.json	peroxisome biogenesis disorder due to PEX2 defect|PEX2 related Zellweger spectrum disorder	http://purl.obolibrary.org/obo/MONDO_0100260		disease_grouping
MONDO:0100261	biolink:Disease	peroxisome biogenesis disorder due to PEX3 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX3 gene.		mondo.json	PEX3 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX3 defect	http://purl.obolibrary.org/obo/MONDO_0100261		disease_grouping
MONDO:0100262	biolink:Disease	peroxisome biogenesis disorder due to PEX5 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX5 gene.		mondo.json	PEX5 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX5 defect	http://purl.obolibrary.org/obo/MONDO_0100262		disease_grouping
GO:0008228	biolink:NamedThing	opsonization	The process in which a microorganism (or other particulate material) is rendered more susceptible to phagocytosis by coating with an opsonin, a blood serum protein such as a complement component or antibody.		mondo.json		http://purl.obolibrary.org/obo/GO_0008228		
MONDO:0100263	biolink:Disease	peroxisome biogenesis disorder due to PEX6 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene.		mondo.json	PEX6 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX6 defect	http://purl.obolibrary.org/obo/MONDO_0100263		disease_grouping
MONDO:0100264	biolink:Disease	peroxisome biogenesis disorder due to PEX10 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX10 gene.		mondo.json	PEX10 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX10 defect	http://purl.obolibrary.org/obo/MONDO_0100264		disease_grouping
MONDO:0100265	biolink:Disease	peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain	Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene.		mondo.json	peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain	http://purl.obolibrary.org/obo/MONDO_0100265		
MONDO:0100266	biolink:Disease	peroxisome biogenesis disorder due to PEX12 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene.		mondo.json	PEX12 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX12 defect	http://purl.obolibrary.org/obo/MONDO_0100266		disease_grouping
MONDO:0100267	biolink:Disease	peroxisome biogenesis disorder due to PEX13 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX13 gene.		mondo.json	PEX13 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX13 defect	http://purl.obolibrary.org/obo/MONDO_0100267		disease_grouping
MONDO:0041366	biolink:Disease	acute epiglottitis	Acute form of epiglottitis.	SCTID:29608009	mondo.json	epiglottitis, acute|acute epiglottitis|acute epiglottitis and supraglottitis	http://purl.obolibrary.org/obo/MONDO_0041366	http://identifiers.org/snomedct/29608009	
MONDO:0100268	biolink:Disease	peroxisome biogenesis disorder due to PEX14 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX14 gene.		mondo.json	PEX14 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX14 defect	http://purl.obolibrary.org/obo/MONDO_0100268		disease_grouping
MONDO:0100269	biolink:Disease	peroxisome biogenesis disorder due to PEX16 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX16 gene.		mondo.json	peroxisome biogenesis disorder due to PEX16 defect|PEX16 related Zellweger spectrum disorder	http://purl.obolibrary.org/obo/MONDO_0100269		disease_grouping
HGNC:16473	biolink:NamedThing	NME8			mondo.json		http://identifiers.org/hgnc/16473		
HGNC:16472	biolink:NamedThing	SLC45A2			mondo.json		http://identifiers.org/hgnc/16472		
MONDO:0100270	biolink:Disease	peroxisome biogenesis disorder due to PEX19 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX19 gene.		mondo.json	PEX19 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX19 defect	http://purl.obolibrary.org/obo/MONDO_0100270		disease_grouping
MONDO:0100271	biolink:Disease	peroxisome biogenesis disorder due to PEX26 defect	Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX26 gene.		mondo.json	peroxisome biogenesis disorder due to PEX26 defect|PEX26 related Zellweger spectrum disorder	http://purl.obolibrary.org/obo/MONDO_0100271		disease_grouping
MONDO:0100272	biolink:Disease	peroxisome biogenesis disorder due to PEX7 defect	Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene.		mondo.json	PEX7 related peroxisome biogenesis disorder|rhizomelic chondrodysplasia punctata type 1 (formerly)|adult refsum disease due to PEX7 defect (formerly)	http://purl.obolibrary.org/obo/MONDO_0100272		
MONDO:0100273	biolink:Disease	glyceronephosphate O-acyltransferase deficiency	Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the GNPAT gene.		mondo.json	glyceronephosphate O-acyltransferase deficiency|GNPAT deficiency	http://purl.obolibrary.org/obo/MONDO_0100273		
MONDO:0100274	biolink:Disease	alkylglycerone-phosphate synthase deficiency	Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGPS gene.		mondo.json	AGPS deficiency|alkylglycerone-phosphate synthase deficiency	http://purl.obolibrary.org/obo/MONDO_0100274		
GO:0008238	biolink:NamedThing	exopeptidase activity	Catalysis of the hydrolysis of a peptide bond not more than three residues from the N- or C-terminus of a polypeptide chain, in a reaction that requires a free N-terminal amino group, C-terminal carboxyl group or both.		mondo.json	exoprotease activity	http://purl.obolibrary.org/obo/GO_0008238		
MONDO:0100275	biolink:Disease	fatty acyl-CoA reductase defects	Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene.		mondo.json	FAR1 defect|fatty acyl-CoA reductase defects	http://purl.obolibrary.org/obo/MONDO_0100275		
MONDO:0100276	biolink:Disease	disorder of defective peroxisomal and mitochondrial fission	A disease that has its basis in the disruption of peroxisome and mitochondrial fission.		mondo.json	peroxisome and mitochronrial fission disease|disorder of defective peroxisomal and mitochondrial fission	http://purl.obolibrary.org/obo/MONDO_0100276		
MONDO:0100277	biolink:Disease	disorder of peroxisomal alpha oxidation	Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisomal alpha oxidatiion.		mondo.json	disorder of peroxisomal alpha oxidation	http://purl.obolibrary.org/obo/MONDO_0100277		disease_grouping
GO:0008236	biolink:NamedThing	serine-type peptidase activity	Catalysis of the hydrolysis of peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine).		mondo.json	serine protease activity	http://purl.obolibrary.org/obo/GO_0008236		
MONDO:0100278	biolink:Disease	alanine glyoxylate aminotransferase deficiency	Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene.		mondo.json	AGXT defect|alanine glyoxylate aminotransferase deficiency|AGXT deficiency	http://purl.obolibrary.org/obo/MONDO_0100278		
MONDO:0100279	biolink:Disease	peroxisome biogenesis disorder due to PEX11B defect	Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene.		mondo.json	peroxisome biogenesis disorder due to PEX11B defect|PEX11B related peroxisome biogenesis disorder	http://purl.obolibrary.org/obo/MONDO_0100279		disease_grouping
GO:0008233	biolink:NamedThing	peptidase activity	Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid.		mondo.json	peptidase activity, acting on D-amino acid peptides|protease activity|peptide hydrolase activity|hydrolase, acting on peptide bonds|proteinase activity|peptidase activity, acting on L-amino acid peptides	http://purl.obolibrary.org/obo/GO_0008233		
GO:0008240	biolink:NamedThing	tripeptidyl-peptidase activity	Catalysis of the release of an N-terminal tripeptide from a polypeptide.		mondo.json		http://purl.obolibrary.org/obo/GO_0008240		
MONDO:0004478	biolink:Disease	pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma	A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) that lacks somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes, implying pregerminal center B-cell origin. Microarray gene expression profiling studies have demonstrated the expression of ZAP-70 gene (Syk family tyrosine kinase) in this subset of CLL/CLL. Patients with this variant of CLL/SLL have an unfavorable prognosis compared to those with somatic hypermutations of the IGH genes, with a median survival of approximately 6-8 years.	DOID:8144|UMLS:C1333038|NCIT:C37204	mondo.json	chronic lymphocytic leukemia/small lymphocytic lymphoma with unmutated Immunoglobulin heavy chain variable-region Gene|pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma|CLL/SLL with unmutated IGVH	http://purl.obolibrary.org/obo/MONDO_0004478	DOID:8144|NCIT:C37204|UMLS:C1333038	
MONDO:0004477	biolink:Disease	adrenal gland ganglioneuroblastoma	A ganglioneuroblastoma arising from the adrenal gland.	NCIT:C7646|UMLS:C1332176|DOID:8140	mondo.json	ganglioneuroblastoma (disease) of adrenal gland|adrenal ganglioneuroblastoma|adrenal gland ganglioneuroblastoma (disease)|adrenal gland ganglioneuroblastoma	http://purl.obolibrary.org/obo/MONDO_0004477	UMLS:C1332176|NCIT:C7646|DOID:8140	
GO:0045190	biolink:NamedThing	isotype switching	The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus.		mondo.json	class switch recombination|class switching|isotype switch recombination	http://purl.obolibrary.org/obo/GO_0045190		
MONDO:0004479	biolink:Disease	malignant childhood germ cell neoplasm	A malignant germ cell tumor that occurs during childhood.	UMLS:C1334574|NCIT:C6541|DOID:8149	mondo.json	malignant pediatric germ cell neoplasm|malignant childhood germ cell tumor|malignant childhood germ cell neoplasm|malignant pediatric germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0004479	DOID:8149|UMLS:C1334574|NCIT:C6541	
GO:0045191	biolink:NamedThing	regulation of isotype switching	Any process that modulates the frequency, rate or extent of isotype switching.		mondo.json	regulation of class switch recombination|regulation of isotype switch recombination|regulation of class switching	http://purl.obolibrary.org/obo/GO_0045191		
MONDO:0004474	biolink:Disease	gallbladder lymphoma	A lymphoma that arises from the gallbladder, with the bulk of the tumor located at this site.	UMLS:C1333748|NCIT:C5734|DOID:8135	mondo.json	gallbladder lymphoma|lymphoma of the gallbladder|primary gallbladder lymphoma|lymphoma of gall bladder|gall bladder lymphoma|lymphoma of gallbladder	http://purl.obolibrary.org/obo/MONDO_0004474	UMLS:C1333748|NCIT:C5734|DOID:8135	
MONDO:0004473	biolink:Disease	epiglottis cancer	A malignant neoplasm that affects the epiglottis. The vast majority of cases are squamous cell carcinomas.	ICD10CM:C10.1|NCIT:C35697|SCTID:187681002|ICD9:146.4|DOID:8133|NCIT:C4836	mondo.json	malignant neoplasm of epiglottis|malignant tumor of Epiglottis|epiglottic carcinoma|malignant epiglottic neoplasm|malignant neoplasm of anterior epiglottis|malignant Epiglottis neoplasm|epiglottis cancer|malignant tumor of the Epiglottis|epiglottic throat cancer|epiglottic cancer|malignant neoplasm of Epiglottis|malignant epiglottis neoplasm|malignant neoplasm of anterior aspect of epiglottis|malignant neoplasm of the Epiglottis|malignant Epiglottis tumor|malignant epiglottic tumor|malignant neoplasm of anterior surface of epiglottis|cancer of epiglottis	http://purl.obolibrary.org/obo/MONDO_0004473	NCIT:C4836|http://purl.bioontology.org/ontology/ICD10CM/C10.1|NCIT:C35697|DOID:8133|http://identifiers.org/snomedct/187681002	
MONDO:0004476	biolink:Disease	obsolete thymus sarcomatoid carcinoma	OBSOLETE. A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0004476		
MONDO:0004475	biolink:Disease	thymus clear cell carcinoma	A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of carcinoma cells with clear cytoplasm.	UMLS:C1333069|NCIT:C6462|DOID:8137	mondo.json	clear cell carcinoma of Thymus|thymic clear cell carcinoma|Thymus clear cell carcinoma|thymus clear cell carcinoma|clear cell carcinoma of the Thymus	http://purl.obolibrary.org/obo/MONDO_0004475	UMLS:C1333069|NCIT:C6462|DOID:8137	
HGNC:28557	biolink:NamedThing	KLHDC8B			mondo.json		http://identifiers.org/hgnc/28557		
MONDO:0004470	biolink:Disease	obsolete osteochondrosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004470		
MONDO:0004472	biolink:Disease	breast columnar cell mucinous carcinoma	An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are not identified.	UMLS:C1511305|DOID:8130|NCIT:C40355	mondo.json	breast columnar cell mucinous carcinoma	http://purl.obolibrary.org/obo/MONDO_0004472	NCIT:C40355|UMLS:C1511305|DOID:8130	
MONDO:0004471	biolink:Disease	bacterial arthritis	The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint.	ICD9:711.90|NCIT:C26700|ICD9:711.40|ICD9:711.9|NCIT:C26699|DOID:813|MESH:D001170|SCTID:48245008|EFO:1001351|ICD9:711.97|ICD9:711.96|ICD9:711.95|ICD9:711.0|ICD9:711.94|ICD9:711.93|ICD9:711.92|ICD9:711.91	mondo.json	pyogenic arthritis|infectious arthritis|septic arthritis	http://purl.obolibrary.org/obo/MONDO_0004471	http://identifiers.org/mesh/D001170|DOID:813|http://identifiers.org/snomedct/48245008|NCIT:C26699	
MONDO:0016467	biolink:Disease	isotretinoin syndrome	Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy.	GARD:0000517|Orphanet:2305|NCIT:C98929|SCTID:36871005|MESH:C535670	mondo.json	fetal retinoid syndrome|Accutane-exposed pregnancies|Isotretinoin (RoAccutane) embryopathy|Isotretinoin embryopathy|Isotretinoin teratogen syndrome|fetal isotretinoin syndrome|Retinoids embryopathy|Acutane embryopathy|Accutane fetal effects of|retinoic acid embryopathy|Isotretinoin fetal effects of	http://purl.obolibrary.org/obo/MONDO_0016467	Orphanet:2305|http://identifiers.org/mesh/C535670|http://identifiers.org/snomedct/36871005|NCIT:C98929	ordo_malformation_syndrome|gard_rare
MONDO:0016468	biolink:Disease	toxin-mediated infectious botulism	Aform of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism).	Orphanet:230800	mondo.json	toxin-mediated infective botulism	http://purl.obolibrary.org/obo/MONDO_0016468	Orphanet:230800	ordo_clinical_subtype
MONDO:0016469	biolink:Disease	Ehlers-Danlos syndrome, vascular-like type	Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries.	Orphanet:230845|SCTID:720862007|UMLS:CN201458	mondo.json	EDS, vascular-like type	http://purl.obolibrary.org/obo/MONDO_0016469	UMLS:CN201458|http://identifiers.org/snomedct/720862007|Orphanet:230845	ordo_disease
MONDO:0016463	biolink:Disease	syndromic agammaglobulinemia	A agammaglobulinemia that is part of a larger syndrome.	Orphanet:229720|UMLS:CN226939|NCIT:C26931	mondo.json	syndrome associated with agammaglobulinemia|syndromic hypogammaglobulinemia|syndromic agammaglobulinemia|hypogammaglobulinemia	http://purl.obolibrary.org/obo/MONDO_0016463	UMLS:CN226939|Orphanet:229720|NCIT:C26931	disease_grouping|ordo_group_of_disorders
MONDO:0016464	biolink:Disease	insulin-resistance syndrome type B	Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome) and occurs in the context of immune dysfunction.	Orphanet:2298|GARD:0003009|UMLS:C0342337	mondo.json	insulin-resistance type B	http://purl.obolibrary.org/obo/MONDO_0016464	Orphanet:2298|UMLS:C0342337	gard_rare|ordo_disease
MONDO:0016465	biolink:Disease	obsolete multiple intestinal atresia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016465		
MONDO:0016466	biolink:Disease	asbestosis	A lung disorder caused by inhalation of asbestos fibers. It results in fibrosis of the lung parenchyma. Signs and symptoms include coughing, shortness of breath and chest pain.	EFO:0007153|ICD9:501|UMLS:C0003949|DOID:10320|CSP:2596-4484|NCIT:C84573|MESH:D001195|Orphanet:2302|GARD:0005852|SCTID:22607003	mondo.json	pulmonary fibrosis - from asbestos exposure|idiopathic interstitial pneumonitis - from asbestos exposure|asbestos intoxication|pneumoconiosis from asbestos dust|asbestos dust pneumoconiosis|asbestosis|asbestos pneumoconiosis|asbestos intoxination	http://purl.obolibrary.org/obo/MONDO_0016466	UMLS:C0003949|http://identifiers.org/mesh/D001195|Orphanet:2302|http://identifiers.org/snomedct/22607003|NCIT:C84573|DOID:10320	gard_rare|ordo_disease
MONDO:0016460	biolink:Disease	polyvalvular heart disease syndrome	Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.	UMLS:CN201425|Orphanet:228410|UMLS:C4509918|SCTID:723448007	mondo.json	PHD syndrome	http://purl.obolibrary.org/obo/MONDO_0016460	UMLS:CN201425|http://identifiers.org/snomedct/723448007|UMLS:C4509918|Orphanet:228410	ordo_malformation_syndrome
MONDO:0016461	biolink:Disease	5q35 microduplication syndrome	The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.	UMLS:CN201426|Orphanet:228415|SCTID:719665003|UMLS:C4304526	mondo.json	dup(5)(q35)|trisomy 5q35	http://purl.obolibrary.org/obo/MONDO_0016461	UMLS:CN201426|UMLS:C4304526|http://identifiers.org/snomedct/719665003|Orphanet:228415	ordo_malformation_syndrome
MONDO:0016462	biolink:Disease	isolated agammaglobulinemia	Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.	SCTID:764858009|Orphanet:229717	mondo.json	isolated hypogammaglobulinemia|nonsyndromic agammaglobulinemia	http://purl.obolibrary.org/obo/MONDO_0016462	http://identifiers.org/snomedct/764858009|Orphanet:229717	ordo_disease
MONDO:0004489	biolink:Disease	fallopian tube gestational choriocarcinoma	A malignant trophoblastic tumor that arises from the fallopian tube during pregnancy.	DOID:8186|UMLS:C1333593|NCIT:C6278	mondo.json	gestational choriocarcinoma of the fallopian tube|gestational choriocarcinoma of fallopian tube|fallopian tube gestational choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004489	UMLS:C1333593|NCIT:C6278|DOID:8186	
MONDO:0004488	biolink:Disease	cervical atypical polypoid adenomyoma	An adenomyoma that arises from the cervix and is characterized by the presence of a glandular component exhibiting architectural complexity.	NCIT:C40234|UMLS:C1516409|DOID:8179	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004488	UMLS:C1516409|NCIT:C40234|DOID:8179	
GO:1901699	biolink:NamedThing	cellular response to nitrogen compound	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus.		mondo.json	cellular response to nitrogen molecular entity	http://purl.obolibrary.org/obo/GO_1901699		
MONDO:0004485	biolink:Disease	interstitial myocarditis	Inflammation of the heart characterized by infiltration of the interstitial tissues by inflammatory cells, histiocytes, and the formation of granulomas. Giant cells are often present.	DOID:817|SCTID:37925008|NCIT:C35786|UMLS:C0027060	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004485	http://identifiers.org/snomedct/37925008|NCIT:C35786|DOID:817|UMLS:C0027060	
MONDO:0004484	biolink:Disease	gallbladder melanoma	A melanoma that arises from the gallbladder.	NCIT:C5735|DOID:8167|UMLS:C1333749	mondo.json	gall bladder melanoma|melanoma of the gallbladder|melanoma of gallbladder|malignant melanoma of the gallbladder|melanoma (disease) of gall bladder|gallbladder malignant melanoma|gallbladder melanoma|gall bladder melanoma (disease)|malignant melanoma of gallbladder	http://purl.obolibrary.org/obo/MONDO_0004484	UMLS:C1333749|DOID:8167|NCIT:C5735	
MONDO:0004487	biolink:Disease	endometrial type cervical adenomyoma	An adenomyoma that arises from the cervix and is characterized by the presence of endometrial type glands and endometrial stroma, surrounded by smooth muscle. There is no evidence of atypia.	NCIT:C40233|UMLS:C1516406|DOID:8178	mondo.json	cervical adenomyoma, endometrial type	http://purl.obolibrary.org/obo/MONDO_0004487	NCIT:C40233|DOID:8178|UMLS:C1516406	
MONDO:0004486	biolink:Disease	endocervical type cervical adenomyoma	An adenomyoma that arises from the cervix and is characterized by the presence of endocervical mucinous glands and a smooth muscle cell component. There is no atypia or significant mitotic activity present.	NCIT:C40232|UMLS:C1516405|DOID:8177	mondo.json	cervical adenomyoma, endocervical type	http://purl.obolibrary.org/obo/MONDO_0004486	NCIT:C40232|DOID:8177|UMLS:C1516405	
GO:1901698	biolink:NamedThing	response to nitrogen compound	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus.		mondo.json	response to nitrogen molecular entity	http://purl.obolibrary.org/obo/GO_1901698		
MONDO:0004481	biolink:Disease	pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma	A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of a focal or multifocal invasive carcinomatous component. The invasive carcinoma is either colloid or ductal adenocarcinoma.	DOID:8150|NCIT:C5726|UMLS:C3274138|UMLS:C1518871|ICDO:8453/3	mondo.json	pancreatic intraductal papillary mucinous neoplasm with an associated invasive carcinoma|pancreatic invasive intraductal papillary-mucinous carcinoma|pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma	http://purl.obolibrary.org/obo/MONDO_0004481	DOID:8150|NCIT:C5726|UMLS:C1518871	
MONDO:0004480	biolink:Disease	obsolete pancreatic invasive intraductal papillary-mucinous carcinoma		UMLS:C1518871	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004480		
MONDO:0004483	biolink:Disease	thyroid gland oncocytic adenoma	A thyroid gland adenoma composed of large cells with abundant granular eosinophilic cytoplasm and large nuclei with prominent nucleoli.	DOID:8162|UMLS:C1336750|ONCOTREE:OAT|NCIT:C6042	mondo.json	thyroid gland oncocytic adenoma|thyroid gland Hurthle cell adenoma|Hurthle cell adenoma|OAT|oncocytic adenoma of the thyroid gland|follicular adenoma of the thyroid of the oxyphilic cell type|thyroid gland follicular adenoma of the oxyphilic cell type|follicular adenoma of thyroid of oxyphilic cell type|oncocytic adenoma of thyroid gland|oncocytic adenoma of the thyroid|thyroid gland follicular adenoma of oxyphilic cell type|thyroid oncocytic adenoma|benign oncocytoma of the thyroid|Hurthle cell adenoma of the thyroid gland|oncocytic adenoma of thyroid|thyroid follicular adenoma of the oxyphilic cell type|follicular adenoma of the thyroid gland of the oxyphilic cell type|follicular adenoma of thyroid gland of oxyphilic cell type|Hurthle cell adenoma of thyroid gland|thyroid follicular adenoma of oxyphilic cell type|benign thyroid oncocytoma|Hurthle cell adenoma of the thyroid|Hurthle cell adenoma of thyroid|benign oncocytoma of the thyroid gland|benign thyroid gland oncocytoma|benign oncocytoma of thyroid gland|thyroid Hurthle cell adenoma|benign oncocytoma of thyroid	http://purl.obolibrary.org/obo/MONDO_0004483	NCIT:C6042|DOID:8162|UMLS:C1336750	
MONDO:0004482	biolink:Disease	fibroosseous pseudotumor of the digits	A non-neoplastic soft tissue disorder characterized by the localized formation of reactive fibrous and bone tissues. It usually occurs in the subcutaneous tissue of the proximal phalanx. Less frequently, it involves the toe. It presents with swelling and pain of the affected area. The prognosis is excellent. However, incomplete excision may lead to the re-growth of the lesion.	UMLS:C1333612|SCTID:403991009|ICD9:215.9|NCIT:C6573|DOID:8153	mondo.json	fibroosseous pseudotumor of digits|fibroosseous pseudotumor of the digits|fibroosseous digital pseudotumor	http://purl.obolibrary.org/obo/MONDO_0004482	UMLS:C1333612|http://identifiers.org/snomedct/403991009|NCIT:C6573|DOID:8153	
MONDO:0016456	biolink:Disease	5q14.3 microdeletion syndrome	The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.	OMIM:613443|Orphanet:228384|SCTID:719661007|GARD:0012166	mondo.json	5q14.3 deletion syndrome|monosomy 5q14.3|Del(5)(q14.3)|chromosome 5q14.3 deletion syndrome|autosomal dominant intellectual disability 20	http://purl.obolibrary.org/obo/MONDO_0016456	http://identifiers.org/snomedct/719661007|Orphanet:228384	ordo_malformation_syndrome
MONDO:0016457	biolink:Disease	ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome	Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism.	Orphanet:228396|UMLS:CN201421	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016457	Orphanet:228396|UMLS:CN201421	ordo_malformation_syndrome
MONDO:0016458	biolink:Disease	8q12 microduplication syndrome	The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly.	GARD:0012816|Orphanet:228399|UMLS:C4304504|UMLS:CN201422|SCTID:719684000	mondo.json	dup(8)(q12)|chromosome 8q12 microduplication syndrome|trisomy 8q12	http://purl.obolibrary.org/obo/MONDO_0016458	Orphanet:228399|UMLS:CN201422|http://identifiers.org/snomedct/719684000|UMLS:C4304504	gard_rare|ordo_malformation_syndrome
MONDO:0016459	biolink:Disease	2q23.1 microdeletion syndrome	The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.	OMIM:156200|SCTID:719657001|GARD:0010998|Orphanet:228402	mondo.json	pseudo-Angelman syndrome|Del(2)(q23.1)|monosomy 2q23.1|chromosome 2q23.1 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016459	http://identifiers.org/snomedct/719657001|Orphanet:228402	gard_rare|ordo_malformation_syndrome
MONDO:0016452	biolink:Disease	idiopathic hypersomnia without long sleep time	Idiopathic hypersomnia without long sleep time is a sleep disorder characterized almost entirely by constant excessive daytime drowsiness lasting more than 3 months, with involuntary more or less restorative daytime naps. Night rest is of normal length or slightly prolonged but is less than 10 hours in duration, with often normal awakening.	ICD10CM:G47.12|ICD9:327.12|Orphanet:228318|UMLS:C1561855|SCTID:442292004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016452	Orphanet:228318|UMLS:C1561855|http://purl.bioontology.org/ontology/ICD10CM/G47.12|http://identifiers.org/snomedct/442292004	ordo_clinical_subtype
MONDO:0016453	biolink:Disease	foodborne botulism	Foodborne botulism is the most common form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs.	SCTID:398523009|Orphanet:228371|ICD9:005.1|UMLS:C1739094|NCIT:C128341|DOID:0050352	mondo.json	intoxication botulism	http://purl.obolibrary.org/obo/MONDO_0016453	UMLS:C1739094|Orphanet:228371|http://identifiers.org/snomedct/398523009|DOID:0050352|NCIT:C128341	ordo_clinical_subtype
MONDO:0016454	biolink:Disease	Charcot-Marie-Tooth disease type 2B5	A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.	Orphanet:228374	mondo.json	severe early-onset axonal neuropathy due to light neurofilament subunit deficiency|autosomal recessive Charcot-Marie-Tooth disease type 2B5|SEOAN due to NEFL deficiency|Charcot-Marie-Tooth disease type 2B5|AR-CMT2B5|severe early-onset axonal neuropathy due to NEFL deficiency	http://purl.obolibrary.org/obo/MONDO_0016454	Orphanet:228374	ordo_disease
MONDO:0016455	biolink:Disease	virus-associated trichodysplasia spinulosa	Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients.	UMLS:C3267126|Orphanet:228379	mondo.json	TS|pilomatrix dysplasia|VATS|Cyclosporine-induced folliculodystrophy|trichodysplasia spinulosa	http://purl.obolibrary.org/obo/MONDO_0016455	Orphanet:228379|UMLS:C3267126	ordo_disease
MONDO:0016450	biolink:Disease	autoimmune hemolytic anemia, cold type	Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH).	UMLS:CN201401|Orphanet:228312	mondo.json	cold AIHA|cAHA|cAIHA	http://purl.obolibrary.org/obo/MONDO_0016450	Orphanet:228312|UMLS:CN201401	disease_grouping|ordo_group_of_disorders
MONDO:0016451	biolink:Disease	idiopathic hypersomnia with long sleep time	Idiopathic hypersomnia with long sleep time is a sleep disorder characterized by good quality night rest of 10 hours or more, excessive daytime drowsiness that is more or less continual with long episodes of non-restorative sleep, and difficult waking with sleep drunkenness or sleep inertia.	ICD10CM:G47.11|ICD9:327.11|UMLS:C2711059|Orphanet:228315|SCTID:442416002	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016451	Orphanet:228315|UMLS:C2711059|http://purl.bioontology.org/ontology/ICD10CM/G47.11|http://identifiers.org/snomedct/442416002	ordo_clinical_subtype
MONDO:0004459	biolink:Disease	bladder hepatoid adenocarcinoma	A hepatoid adenocarcinoma that involves the urinary bladder.	NCIT:C39838|DOID:8097|UMLS:C1511189	mondo.json	bladder hepatoid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004459	NCIT:C39838|DOID:8097|UMLS:C1511189	
MONDO:0004456	biolink:Disease	cocaine abuse	Disorders related or resulting from use of cocaine.	ICD9:305.6|DOID:809|SCTID:78267003|ICD9:305.60	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004456	DOID:809|http://identifiers.org/snomedct/78267003	
MONDO:0004455	biolink:Disease	classic congenital mesoblastic nephroma	A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation.	NCIT:C39814|DOID:8083|UMLS:C1516475	mondo.json	classic congenital mesoblastic nephroma	http://purl.obolibrary.org/obo/MONDO_0004455	NCIT:C39814|DOID:8083|UMLS:C1516475	
MONDO:0004458	biolink:Disease	bladder mixed adenocarcinoma		UMLS:C1511192|DOID:8096|NCIT:C39839	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004458	DOID:8096|NCIT:C39839|UMLS:C1511192	
MONDO:0004457	biolink:Disease	maxillary sinus Schneiderian papilloma	A papilloma that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It is classified as inverted papilloma and oncocytic papilloma.	UMLS:C1334646|NCIT:C6839|DOID:8093	mondo.json	Schneiderian papilloma of the maxillary sinus|paranasal sinus Schneiderian papilloma of maxillary sinus|Schneiderian papilloma of maxillary sinus|maxillary sinus paranasal sinus Schneiderian papilloma|maxillary sinus Schneiderian papilloma	http://purl.obolibrary.org/obo/MONDO_0004457	NCIT:C6839|DOID:8093|UMLS:C1334646	
MONDO:0004452	biolink:Disease	childhood central nervous system germinoma	A germinoma arising from the central nervous system during childhood.	DOID:8078|UMLS:C1332953|NCIT:C27406	mondo.json	Central nervous system germinoma|central nervous system germinoma of childhood|pediatric central nervous system germinoma	http://purl.obolibrary.org/obo/MONDO_0004452	DOID:8078|UMLS:C1332953|NCIT:C27406	
CHR:9606-chr5q1	biolink:NamedThing	5q1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr5q1		
MONDO:0004451	biolink:Disease	sarcomatous intrahepatic cholangiocarcinoma	A rare, aggressive variant of intrahepatic cholangiocarcinoma. It is characterized by the presence of adenocarcinoma cells that are intermingled with malignant pleomorphic spindle cells.	UMLS:C1519184|DOID:8072|NCIT:C41620	mondo.json	sarcomatoid intrahepatic cholangiocarcinoma|intrahepatic cholangiocarcinoma with extensive sarcomatous changes	http://purl.obolibrary.org/obo/MONDO_0004451	DOID:8072|NCIT:C41620|UMLS:C1519184	
CHR:9606-chr5q2	biolink:NamedThing	5q2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr5q2		
CHR:9606-chr5q3	biolink:NamedThing	5q3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr5q3		
MONDO:0004454	biolink:Disease	cellular congenital mesoblastic nephroma	A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present.	DOID:8082|UMLS:C1516474|NCIT:C39815	mondo.json	cellular congenital mesoblastic nephroma	http://purl.obolibrary.org/obo/MONDO_0004454	DOID:8082|NCIT:C39815|UMLS:C1516474	
MONDO:0004453	biolink:Disease	testicular yolk sac tumor, myxomatous pattern	A yolk sac tumor that arises from the testis and is characterized by the presence of myxomatous tissue that contains collections of malignant cells with prominent nucleoli.	UMLS:C1515309|DOID:8081|NCIT:C39929	mondo.json	testicular yolk sac tumor, myxomatous pattern|myxomatous pattern testicular yolk sac tumor	http://purl.obolibrary.org/obo/MONDO_0004453	DOID:8081|NCIT:C39929|UMLS:C1515309	
MONDO:0004450	biolink:Disease	carotid artery occlusion	A occlusion precerebral artery that involves the carotid artery segment.	SCTID:266254007|ICD9:433.10|DOID:807|UMLS:C0265101	mondo.json	occlusion and stenosis of carotid artery|carotid artery segment occlusion precerebral artery|occlusion precerebral artery of carotid artery segment	http://purl.obolibrary.org/obo/MONDO_0004450	http://identifiers.org/snomedct/266254007|UMLS:C0265101|DOID:807	
MONDO:0041440	biolink:Disease	obsolete functional visual loss		UMLS:C0730512|SCTID:313165001	mondo.json	nonphysiologic acuity loss|functional visual loss|nonphysiologic vision loss	http://purl.obolibrary.org/obo/MONDO_0041440	http://identifiers.org/snomedct/313165001|UMLS:C0730512	
MONDO:0016449	biolink:Disease	mid-dermal elastolysis		Orphanet:228299	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016449	Orphanet:228299	ordo_disease
CHR:9606-chr20p12.3	biolink:NamedThing	20p12.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr20p12.3		
MONDO:0016445	biolink:Disease	familial anetoderma	Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder.	Orphanet:228277|UMLS:CN226934|SCTID:733467001|UMLS:C4518793	mondo.json	hereditary macular atrophy|hereditary anetoderma	http://purl.obolibrary.org/obo/MONDO_0016445	Orphanet:228277|UMLS:C4518793|UMLS:CN226934|http://identifiers.org/snomedct/733467001	ordo_disease
MONDO:0016446	biolink:Disease	acquired cutis laxa	An instance of cutis laxa that is acquired during the lifetime of the individual.	SCTID:19726003|Orphanet:228285|UMLS:C0406549	mondo.json	cutis laxa acquisita|acquired cutis laxa	http://purl.obolibrary.org/obo/MONDO_0016446	http://identifiers.org/snomedct/19726003|Orphanet:228285|UMLS:C0406549	ordo_disease
MONDO:0016447	biolink:Disease	white fibrous papulosis of the neck	White fibrous papulosis of the neck (WFPN) is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region.	UMLS:CN226935|Orphanet:228290	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016447	Orphanet:228290|UMLS:CN226935	ordo_disease
MONDO:0016448	biolink:Disease	pseudoxanthoma elasticum-like papillary dermal elastolysis	Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement.	Orphanet:228293|SCTID:764105002	mondo.json	PXE-like papillary dermal elastolysis|PXE-PDE	http://purl.obolibrary.org/obo/MONDO_0016448	http://identifiers.org/snomedct/764105002|Orphanet:228293	ordo_disease
MONDO:0016441	biolink:Disease	acquired pseudoxanthoma elasticum	A nonheritable form of pseudoxanthoma elasticum (PXE), lacking the retinal and vascular stigmata associated with the inherited form of the disorder, but having skin lesions that are clinically, histologically, and ultrastructurally similar to those seen in the inherited type.	SCTID:403401007|UMLS:C1274759|ICD9:757.39|Orphanet:228247	mondo.json	acquired pseudoxanthoma elasticum|acquired Gronblad-Strandberg-Touraine syndrome|acquired pseudoxanthoma elasticum (inherited or acquired)|localized acquired cutaneous pseudoxanthoma elasticum|acquired PXE	http://purl.obolibrary.org/obo/MONDO_0016441	UMLS:C1274759|http://identifiers.org/snomedct/403401007|Orphanet:228247	ordo_disease
MONDO:0016442	biolink:Disease	elastoma		Orphanet:228254|UMLS:C0473583|SCTID:239140003|ICD9:215.9	mondo.json	Nevus elasticus|juvenile elastoma without osteopoikilosis|Weidman juvenile elastoma	http://purl.obolibrary.org/obo/MONDO_0016442	Orphanet:228254|http://identifiers.org/snomedct/239140003|UMLS:C0473583	ordo_disease
MONDO:0016443	biolink:Disease	papular elastorrhexis	An acquired form of collagenoma that appears in childhood. It is characterized by discrete, firm, skin-colored, and slightly elevated cutaneous papules, nodules or plaques that may be generalized, or found on the trunk and the extremities.	SCTID:239138008|Orphanet:228264|UMLS:C0406816|UMLS:C0473584|NCIT:C4707	mondo.json	disseminated nevus anelasticus|eruptive collagenoma|Nevus anelasticus	http://purl.obolibrary.org/obo/MONDO_0016443	http://identifiers.org/snomedct/239138008|Orphanet:228264|NCIT:C4707|UMLS:C0406816|UMLS:C0473584	ordo_disease
MONDO:0016444	biolink:Disease	primary anetoderma	Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause.	UMLS:C0406550|SCTID:238829001|Orphanet:228272|MESH:D057088	mondo.json	primary macular atrophy	http://purl.obolibrary.org/obo/MONDO_0016444	http://identifiers.org/mesh/D057088|Orphanet:228272|http://identifiers.org/snomedct/238829001|UMLS:C0406550	ordo_disease
MONDO:0016440	biolink:Disease	elastofibroma dorsi	A benign, slow-growing tumor arising from the soft tissues usually in the mid-thoracic region of the elderly. It is characterized by the presence of paucicellular collagenous tissue, adipocytes and a predominance of large coarse elastic fibers arranged in globules.	Orphanet:228243|UMLS:C0334460|NCIT:C4245|UMLS:CN226932|ICDO:8820/0	mondo.json	Elastofibroma	http://purl.obolibrary.org/obo/MONDO_0016440	NCIT:C4245|UMLS:C0334460|Orphanet:228243|UMLS:CN226932	ordo_disease
GO:0070161	biolink:NamedThing	anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.		mondo.json	anchoring cell junction	http://purl.obolibrary.org/obo/GO_0070161		
MONDO:0004467	biolink:Disease	mature gastric teratoma	A benign teratoma that arises from the stomach.	UMLS:C1334635|NCIT:C5260|DOID:8118	mondo.json	mature teratoma of the stomach|mature gastric teratoma|mature teratoma of stomach|stomach mature teratoma	http://purl.obolibrary.org/obo/MONDO_0004467	DOID:8118|UMLS:C1334635|NCIT:C5260	
MONDO:0004466	biolink:Disease	neuronitis		UMLS:C0027881|NCIT:C34847|DOID:8117	mondo.json	neuroinflammation	http://purl.obolibrary.org/obo/MONDO_0004466	DOID:8117|UMLS:C0027881|NCIT:C34847	
MONDO:0004469	biolink:Disease	pseudovascular skin squamous cell carcinoma		UMLS:C1335974|DOID:8122|NCIT:C27542	mondo.json	skin pseudovascular squamous cell carcinoma|pseudovascular skin squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004469	NCIT:C27542|DOID:8122|UMLS:C1335974	
MONDO:0004468	biolink:Disease	anal canal Paget disease	Paget disease involving the squamous epithelium of the anal canal.	UMLS:C1332261|NCIT:C7477|SCTID:236811000119101|DOID:8119	mondo.json	anal canal mammary Paget's disease|Paget disease of the anal canal|anal canal Paget disease|Paget's disease of anal canal|Paget's disease of the anal canal|anal canal Paget's disease	http://purl.obolibrary.org/obo/MONDO_0004468	DOID:8119|http://identifiers.org/snomedct/236811000119101|UMLS:C1332261|NCIT:C7477	
MONDO:0004463	biolink:Disease	cellular phase chronic idiopathic myelofibrosis	Primary myelofibrosis characterized by bone marrow hypercellularity and the presence of atypical megakaryocytes. There is no increase in the percentage of myeloblasts and no significant increase in reticulin or collagen fibrosis in the bone marrow.	ONCOTREE:PMFPES|UMLS:C1516553|DOID:8106|NCIT:C41237	mondo.json	primary myelofibrosis, Prefibrotic/early stage|chronic idiopathic myelofibrosis, cellular phase|primary myelofibrosis, Prefibrotic stage|PMFPES|Prefibrotic/Early Primary myelofibrosis|chronic idiopathic myelofibrosis, Prefibrotic stage	http://purl.obolibrary.org/obo/MONDO_0004463	NCIT:C41237|UMLS:C1516553|DOID:8106	
MONDO:0004462	biolink:Disease	extrahepatic bile duct cystadenoma	A mucinous cystic neoplasm that arises from the extrahepatic bile ducts.	UMLS:C1333504|NCIT:C5851|DOID:8105	mondo.json	cystadenoma of extrahepatic bile duct|extrahepatic bile duct cystadenoma|cystadenoma of the extrahepatic bile duct|extrahepatic bile duct mucinous cystic neoplasm	http://purl.obolibrary.org/obo/MONDO_0004462	NCIT:C5851|UMLS:C1333504|DOID:8105	
MONDO:0004465	biolink:Disease	periampullary adenocarcinoma	An adenocarcinoma that arises from the periampullary region.	UMLS:C1335377|DOID:8110|NCIT:C27322	mondo.json	periampullary region of duodenum adenocarcinoma|periampullary cancer|periampullary adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004465	DOID:8110|UMLS:C1335377|NCIT:C27322	
MONDO:0004464	biolink:Disease	nephrogenic adenoma of the urethra	A metaplastic lesion of the urothelium found in the urethra. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi.	DOID:8109|UMLS:C1336889|NCIT:C7416	mondo.json	urethra nephrogenic adenoma|nephrogenic adenoma of urethra|urethral nephrogenic adenoma	http://purl.obolibrary.org/obo/MONDO_0004464	DOID:8109|UMLS:C1336889|NCIT:C7416	
MONDO:0004461	biolink:Disease	vaginal tubulovillous adenoma	An adenoma that arises from the vagina and is characterized by a tubulovillous architectural pattern.	UMLS:C1519933|NCIT:C40258|DOID:8104	mondo.json	vaginal tubulovillous adenoma	http://purl.obolibrary.org/obo/MONDO_0004461	NCIT:C40258|UMLS:C1519933|DOID:8104	
MONDO:0004460	biolink:Disease	thyroid gland fetal adenoma	A thyroid gland adenoma composed of microfollicular structures.	ICDO:8333/0|UMLS:C0334328|DOID:8102|NCIT:C4160	mondo.json	thyroid gland microfollicular adenoma|thyroid fetal adenoma|microfollicular adenoma (morphologic abnormality)|microfollicular adenoma	http://purl.obolibrary.org/obo/MONDO_0004460	NCIT:C4160|DOID:8102|UMLS:C0334328	
MONDO:0016438	biolink:Disease	linear focal dermal elastosis	Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis.	Orphanet:228236	mondo.json	Elastotic striae|linear focal elastosis	http://purl.obolibrary.org/obo/MONDO_0016438	Orphanet:228236	ordo_disease
MONDO:0016439	biolink:Disease	elastoderma	Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially at the elbows and/or knees) are most commonly involved. The exact underlying cause is currently unknown; however, it generally occurs sporadically in people with no family history of the condition. There is no standard therapy available for elastoderma. Some cases have been treated with surgical excision (removal of affected skin), but hyperlaxity of skin often returns following the surgery.	UMLS:C0406555|ICD9:701.8|GARD:0012716|Orphanet:228240|SCTID:238832003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016439	Orphanet:228240|UMLS:C0406555|http://identifiers.org/snomedct/238832003	gard_rare|ordo_disease
MONDO:0016434	biolink:Disease	acquired dermis elastic tissue disorder	An instance of dermis elastic tissue disorder that is acquired during the lifetime of the individual.	UMLS:CN226927|Orphanet:228218	mondo.json	acquired dermis elastic tissue disorder	http://purl.obolibrary.org/obo/MONDO_0016434	Orphanet:228218|UMLS:CN226927	ordo_group_of_disorders|disease_grouping
MONDO:0016435	biolink:Disease	obsolete acquired dermis elastic tissue disorder with decreased elastic tissue		UMLS:CN226928|Orphanet:228221	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016435	Orphanet:228221|UMLS:CN226928	ordo_group_of_disorders
MONDO:0041447	biolink:Disease	metastatic malignant neoplasm in the colon	The spread of a malignant neoplasm to the colon. This may be from a primary large intestine malignant neoplasm, or from a malignant neoplasm at a distant site.	NCIT:C8411|UMLS:C0346974	mondo.json	metastatic malignant neoplasm in the colon|metastatic tumor to the colon|metastatic neoplasm to the colon|metastatic malignant neoplasm to the colon	http://purl.obolibrary.org/obo/MONDO_0041447	NCIT:C8411|UMLS:C0346974	
MONDO:0016436	biolink:Disease	obsolete acquired dermis elastic tissue disorder with increased elastic tissue		UMLS:CN226929|Orphanet:228224	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016436	Orphanet:228224|UMLS:CN226929	ordo_group_of_disorders
MONDO:0041448	biolink:Disease	metastasis from malignant tumor of colon		SCTID:314998002|UMLS:C1282500	mondo.json	metastasis from malignant tumor of colon	http://purl.obolibrary.org/obo/MONDO_0041448	UMLS:C1282500|http://identifiers.org/snomedct/314998002	
MONDO:0016437	biolink:Disease	late-onset focal dermal elastosis	Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits.	Orphanet:228227	mondo.json	pseudoxanthoma-like late-onset focal dermal elastosis|PXE-like late-onset focal dermal elastosis	http://purl.obolibrary.org/obo/MONDO_0016437	Orphanet:228227	ordo_disease
MONDO:0016430	biolink:Disease	Balo concentric sclerosis	Tumefactive multiple sclerosis is characterized by a tumor-like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. It is a rare form of multiple sclerosis (MS). Symptoms of tumefactive MS often differ from other MS cases and may include, headaches, changes in thinking, confusion, speech problems, seizures, and weakness. The cause of tumefactive MS is not known. It often develops into the relapsing-remitting form of MS. In other cases there is only one occurrence of the condition. In still others the disease process remains less clear. While there is no cure for tumefactive MS, treatments such as corticosteroids are available to decrease disease activity.	Orphanet:228165|NCIT:C35257|ICD9:341.1|UMLS:C0205710|SCTID:49692006|DOID:0060215|UMLS:C0007795|SCTID:230380005|SCTID:20415001|MedDRA:10010252|GARD:0005885|UMLS:C0004712	mondo.json	Balo disease|encephalitis periaxialis concentrica|Marburg variant|Balo's disease|Balo concentric sclerosis|concentric demyelination|diffuse cerebral sclerosis of Schilder|Tumefactive multiple sclerosis|Baló concentric sclerosis|Balo's concentric sclerosis	http://purl.obolibrary.org/obo/MONDO_0016430	Orphanet:228165|UMLS:C0004712|http://identifiers.org/snomedct/230380005|DOID:0060215	gard_rare|ordo_disease
MONDO:0016431	biolink:Disease	autosomal dominant Charcot-Marie-Tooth disease type 2M	Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.	SCTID:719514002|Orphanet:228179|UMLS:CN201389|UMLS:C4304672	mondo.json	CMT2M	http://purl.obolibrary.org/obo/MONDO_0016431	http://identifiers.org/snomedct/719514002|Orphanet:228179|UMLS:CN201389|UMLS:C4304672	ordo_disease
MONDO:0016432	biolink:Disease	heart-hand syndrome	Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies.	UMLS:CN201390|Orphanet:228184	mondo.json	atriodigital dysplasia	http://purl.obolibrary.org/obo/MONDO_0016432	Orphanet:228184|UMLS:CN201390	disease_grouping|ordo_group_of_disorders
MONDO:0016433	biolink:Disease	dysmorphism-short stature-deafness-disorder of sex development syndrome	Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.	UMLS:CN201392|Orphanet:2282	mondo.json	Dysmorphism-short stature-deafness-pseudohermaphroditism syndrome	http://purl.obolibrary.org/obo/MONDO_0016433	Orphanet:2282|UMLS:CN201392	ordo_malformation_syndrome
HGNC:28514	biolink:NamedThing	CEP112			mondo.json		http://identifiers.org/hgnc/28514		
GO:0070192	biolink:NamedThing	chromosome organization involved in meiotic cell cycle	A process of chromosome organization that is involved in a meiotic cell cycle.		mondo.json	chromosome organisation involved in meiosis|meiotic chromosome organization	http://purl.obolibrary.org/obo/GO_0070192		
HGNC:28510	biolink:NamedThing	GLIS3			mondo.json		http://identifiers.org/hgnc/28510		
NCBITaxon:33213	biolink:OrganismalEntity	Bilateria		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_33213		
MONDO:0016490	biolink:Disease	hemoglobin C-beta-thalassemia syndrome	Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia.	Orphanet:231242|UMLS:CN201488	mondo.json	C-beta-thalassemia|HBC-beta-thalassemia syndrome	http://purl.obolibrary.org/obo/MONDO_0016490	Orphanet:231242|UMLS:CN201488	ordo_disease
MONDO:0016491	biolink:Disease	hemoglobin E-beta-thalassemia syndrome	Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia.	UMLS:C0472777|Orphanet:231249	mondo.json	E-beta-thalassemia|HbE-beta-thalassemia syndrome	http://purl.obolibrary.org/obo/MONDO_0016491	UMLS:C0472777|Orphanet:231249	ordo_disease
HGNC:28526	biolink:NamedThing	EOGT			mondo.json		http://identifiers.org/hgnc/28526		
GO:0033152	biolink:NamedThing	immunoglobulin V(D)J recombination	The process in which immunoglobulin gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). For immunoglobulin heavy chains V, D, and J gene segments are joined, and for immunoglobulin light chains V and J gene segments are joined.		mondo.json	immunoglobulin V-D-J joining|immunoglobulin V-J recombination|immunoglobulin V-J joining|immunoglobulin V-D-J recombination|immunoglobulin V(D)J joining	http://purl.obolibrary.org/obo/GO_0033152		
GO:0033151	biolink:NamedThing	V(D)J recombination	The process in which immune receptor V, D, and J, or V and J gene segments, depending on the specific receptor, are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS).		mondo.json	V-D-J recombination|V-D-J joining|V-J recombination|V-J joining|V(D)J joining	http://purl.obolibrary.org/obo/GO_0033151		
HP:0007513	biolink:PhenotypicFeature	Generalized hypopigmentation		UMLS:C1849923	mondo.json	Generalised hypopigmentation|Pale pigmentation|Fair skin	http://purl.obolibrary.org/obo/HP_0007513		hposlim_core
NCBITaxon:33208	biolink:OrganismalEntity	Metazoa		GC_ID:1	mondo.json	metazoans|animals|multicellular animals|Animalia	http://purl.obolibrary.org/obo/NCBITaxon_33208		
MONDO:0016496	biolink:Disease	pharyngeal-cervical-brachial variant of Guillain-Barre syndrome		UMLS:CN201499|Orphanet:231426	mondo.json	pharyngo-cervico-brachial variant of Guillain-Barré syndrome|PCB variant of Guillain-BarrC) syndrome|pharyngo-cervico-brachial variant of GBS|pharyngeal-cervical-brachial weakness|PCB variant of Guillain-Barré syndrome|pharyngeal-cervical-brachial variant of Guillain-Barré syndrome|pharyngo-cervico-brachial variant of Guillain-BarrC) syndrome|PCB variant of GBS	http://purl.obolibrary.org/obo/MONDO_0016496	Orphanet:231426|UMLS:CN201499	ordo_disease
MONDO:0016497	biolink:Disease	paraparetic variant of Guillain-Barre syndrome	Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal.	Orphanet:231445|UMLS:CN201500	mondo.json	paraparetic variant of GBS|paraparetic variant of Guillain-Barré syndrome	http://purl.obolibrary.org/obo/MONDO_0016497	UMLS:CN201500|Orphanet:231445	ordo_disease
MONDO:0016498	biolink:Disease	acute pure sensory neuropathy		Orphanet:231450|UMLS:CN201501	mondo.json	acute pure sensory Guillain-Barré syndrome|acute pure sensory GBS|acute pure sensory Guillain-BarrC) syndrome	http://purl.obolibrary.org/obo/MONDO_0016498	UMLS:CN201501|Orphanet:231450	ordo_disease
MONDO:0016499	biolink:Disease	acute pandysautonomia	Acute pandysautonomia is a rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating.	Orphanet:231457|UMLS:C2315246|SCTID:430042004	mondo.json	acute panautonomic Guillain-BarrC) syndrome|acute panautonomic neuropathy|acute panautonomic Guillain-Barré syndrome|acute panautonomic GBS	http://purl.obolibrary.org/obo/MONDO_0016499	UMLS:C2315246|http://identifiers.org/snomedct/430042004|Orphanet:231457	ordo_disease
GO:0033157	biolink:NamedThing	regulation of intracellular protein transport	Any process that modulates the frequency, rate or extent of the directed movement of proteins within cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0033157		
MONDO:0016492	biolink:Disease	obsolete beta-thalassemia with other manifestations	OBSOLETE. Beta-thalassemias with other manifestations are a group of beta-thalassemias associated with another disorder.	Orphanet:231386	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016492	Orphanet:231386	ordo_group_of_disorders
MONDO:0016493	biolink:Disease	variant of Guillain-Barre syndrome		UMLS:CN201495|Orphanet:231413	mondo.json	variant of Guillain-Barré syndrome|variant of GBS	http://purl.obolibrary.org/obo/MONDO_0016493	Orphanet:231413|UMLS:CN201495	ordo_group_of_disorders|disease_grouping
MONDO:0016494	biolink:Disease	regional variant of Guillain-Barre syndrome		UMLS:CN201496|Orphanet:231416	mondo.json	regional variant of Guillain-Barré syndrome|regional variant of GBS	http://purl.obolibrary.org/obo/MONDO_0016494	Orphanet:231416|UMLS:CN201496	ordo_group_of_disorders|disease_grouping
MONDO:0016495	biolink:Disease	functional variant of Guillain-Barre syndrome		UMLS:CN201497|Orphanet:231419	mondo.json	functional variant of GBS|functional variant of Guillain-Barré syndrome	http://purl.obolibrary.org/obo/MONDO_0016495	Orphanet:231419|UMLS:CN201497	ordo_group_of_disorders|disease_grouping
MONDO:0016480	biolink:Disease	silver-Russell syndrome due to an imprinting defect of 11p15		UMLS:CN201475|Orphanet:231140	mondo.json	Silver-Russell syndrome due to an imprinting defect of type 11p15	http://purl.obolibrary.org/obo/MONDO_0016480	Orphanet:231140|UMLS:CN201475	ordo_etiological_subtype
MONDO:0004499	biolink:Disease	lung hilum carcinoma	A lung carcinoma arising from the hilum of the lung.	NCIT:C7454|UMLS:C1334445|DOID:8207	mondo.json	hilar lung carcinoma|lung hilum carcinoma|carcinoma of lung hilus|lung hilus carcinoma|lung hilum cancer	http://purl.obolibrary.org/obo/MONDO_0004499	NCIT:C7454|DOID:8207|UMLS:C1334445	
MONDO:0004496	biolink:Disease	myocarditis	Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak.	SCTID:50920009|MESH:D009205|DOID:820|UMLS:C0027059|ICD9:429.0|GARD:0007137|NCIT:C34831|ICD10CM:I40|KEGG:05416	mondo.json	myocardium inflammation|myocardial inflammation|inflammation of myocardium|myocardial inflammation (finding)	http://purl.obolibrary.org/obo/MONDO_0004496	http://identifiers.org/mesh/D009205|DOID:820|NCIT:C34831|http://purl.bioontology.org/ontology/ICD10CM/I40|http://identifiers.org/snomedct/50920009|UMLS:C0027059	gard_rare
MONDO:0004495	biolink:Disease	myotonic cataract	A cataract occurring as a sequela of myotonic dystrophy.	SCTID:64741003|ICD9:366.43|ICD9:359.29|UMLS:C0027128|DOID:82|NCIT:C34833	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004495	NCIT:C34833|DOID:82|UMLS:C0027128|http://identifiers.org/snomedct/64741003	
MONDO:0004498	biolink:Disease	sacral spinal canal and spinal cord meningioma	A meningioma that arises from the meninges of the sacral region of the spinal cord.	NCIT:C5299|UMLS:C1335893|DOID:8203	mondo.json	meningioma of sacral spinal canal and spinal cord|meningioma of the sacral spinal canal and spinal cord|sacral intraspinal meningioma	http://purl.obolibrary.org/obo/MONDO_0004498	NCIT:C5299|DOID:8203|UMLS:C1335893	
MONDO:0004497	biolink:Disease	tertiary syphilis	A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis).	UMLS:C0153188|NCIT:C128414|ICD9:095.8|ICD9:097.0|ICD9:095.9|MESH:C536774|DOID:8200|SCTID:72083004	mondo.json	late tertiary syphilis|tertiary syphilis|late syphilis	http://purl.obolibrary.org/obo/MONDO_0004497	NCIT:C128414|http://identifiers.org/snomedct/72083004|http://identifiers.org/mesh/C536774|UMLS:C0153188|DOID:8200	
MONDO:0004492	biolink:Disease	mediastinitis	An inflammatory process affecting the mediastinum.	ICD10CM:J98.51|SCTID:47597000|MESH:D008480|UMLS:C0025064|NCIT:C26827|DOID:819|ICD9:519.2	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004492	UMLS:C0025064|http://identifiers.org/mesh/D008480|DOID:819|http://identifiers.org/snomedct/47597000|NCIT:C26827|http://purl.bioontology.org/ontology/ICD10CM/J98.51	
MONDO:0004491	biolink:Disease	uterine corpus choriocarcinoma	An aggressive malignant tumor arising from trophoblastic cells in the uterus during pregnancy. Approximately half of the cases develop from a complete hydatidiform mole. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.	NCIT:C27246|ONCOTREE:UCCA|DOID:8188|UMLS:C1336904	mondo.json	choriocarcinoma|body of uterus choriocarcinoma (disease)|gestational uterine corpus choriocarcinoma|uterine corpus gestational choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004491	NCIT:C27246|DOID:8188|UMLS:C1336904	
MONDO:0004494	biolink:Disease	testicular yolk sac tumor, hepatoid pattern	A yolk sac tumor that arises from the testis and is characterized by the presence of hepatoid cells collections.	DOID:8195|UMLS:C1515306|NCIT:C39931	mondo.json	hepatoid pattern testicular yolk sac tumor|testicular yolk sac tumor, hepatoid pattern	http://purl.obolibrary.org/obo/MONDO_0004494	DOID:8195|NCIT:C39931|UMLS:C1515306	
MONDO:0004493	biolink:Disease	testicular yolk sac tumor, papillary pattern	A yolk sac tumor that arises from the testis and is characterized by the presence of numerous papillary structures that are lined by cells with prominent nucleoli.	DOID:8193|UMLS:C1515310|NCIT:C39928	mondo.json	papillary pattern testicular yolk sac tumor|testicular yolk sac tumor, papillary pattern	http://purl.obolibrary.org/obo/MONDO_0004493	NCIT:C39928|DOID:8193|UMLS:C1515310	
HGNC:16517	biolink:NamedThing	TMPRSS6			mondo.json		http://identifiers.org/hgnc/16517		
MONDO:0004490	biolink:Disease	gestational uterine corpus choriocarcinoma	A gestational choriocarcinoma that involves the body of uterus.	DOID:8187	mondo.json	gestational choriocarcinoma of body of uterus|body of uterus gestational choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004490	DOID:8187	
MONDO:0016489	biolink:Disease	delta-beta-thalassemia	Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.	Orphanet:231237|MedDRA:10012236|NCIT:C172823|ICD10CM:D56.2|MESH:C562716|ICD9:282.49|SCTID:16360009|OMIM:141749	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016489	Orphanet:231237|http://purl.bioontology.org/ontology/ICD10CM/D56.2|NCIT:C172823|http://identifiers.org/mesh/C562716|http://identifiers.org/snomedct/16360009	ordo_disease
CARO:0030000	biolink:NamedThing	biological entity			mondo.json		http://purl.obolibrary.org/obo/CARO_0030000		
HGNC:16513	biolink:NamedThing	TMC1			mondo.json		http://identifiers.org/hgnc/16513		
MONDO:0016485	biolink:Disease	Usher syndrome type 3	A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life.	Orphanet:231183|ICD10CM:H35.5|UMLS:C1568248|OMIM:500004|GARD:0005442|NCIT:C126329|DOID:0110828	mondo.json	Usher syndrome type 3|USH3	http://purl.obolibrary.org/obo/MONDO_0016485	UMLS:C1568248|NCIT:C126329|DOID:0110828|Orphanet:231183	ordo_clinical_subtype
HGNC:16510	biolink:NamedThing	FBXO31			mondo.json		http://identifiers.org/hgnc/16510		
MONDO:0016486	biolink:Disease	beta-thalassemia major	Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions.	Orphanet:231214|NCIT:C129699|SCTID:26682008|ICD9:282.49	mondo.json	Mediterranean anemia|Cooley's Anemia|Cooley anemia|Beta thalassemia Major	http://purl.obolibrary.org/obo/MONDO_0016486	NCIT:C129699|http://identifiers.org/snomedct/26682008|Orphanet:231214	ordo_clinical_subtype
MONDO:0016487	biolink:Disease	beta-thalassemia intermedia	Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion.	SCTID:191189009|Orphanet:231222|MedDRA:10062923|ICD9:282.49	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016487	http://identifiers.org/snomedct/191189009|Orphanet:231222	ordo_clinical_subtype
HGNC:16512	biolink:NamedThing	BSND			mondo.json		http://identifiers.org/hgnc/16512		
MONDO:0016488	biolink:Disease	obsolete beta-thalassemia associated with another hemoglobin anomaly	OBSOLETE. Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia ].	Orphanet:231230	mondo.json	Beta-thalassemia associated with another Hb anomaly	http://purl.obolibrary.org/obo/MONDO_0016488	Orphanet:231230	ordo_group_of_disorders
MONDO:0016481	biolink:Disease	silver-Russell syndrome due to 11p15 microduplication		UMLS:CN201476|Orphanet:231144	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016481	Orphanet:231144|UMLS:CN201476	ordo_etiological_subtype
GO:0033145	biolink:NamedThing	positive regulation of intracellular steroid hormone receptor signaling pathway	Any process that activates or increases the frequency, rate or extent of the activity of any intracellular steroid hormone receptor signaling pathway.		mondo.json	positive regulation of steroid hormone receptor signalling pathway|positive regulation of steroid hormone receptor signaling pathway	http://purl.obolibrary.org/obo/GO_0033145		
MONDO:0016482	biolink:Disease	silver-Russell syndrome due to maternal uniparental disomy of chromosome 11		Orphanet:231147|UMLS:CN201477	mondo.json	UPD(11)mat|Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 11	http://purl.obolibrary.org/obo/MONDO_0016482	Orphanet:231147|UMLS:CN201477	ordo_etiological_subtype
GO:0033144	biolink:NamedThing	negative regulation of intracellular steroid hormone receptor signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of any intracellular steroid hormone receptor signaling pathway.		mondo.json	negative regulation of steroid hormone receptor signaling pathway|negative regulation of steroid hormone receptor signalling pathway	http://purl.obolibrary.org/obo/GO_0033144		
MONDO:0016483	biolink:Disease	intracranial berry aneurysm	An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.	Orphanet:231160|HP:0007029|SCTID:703226008|UMLS:CN230268|DOID:0060228|OMIMPS:105800	mondo.json	familial berry aneurysm|aneurysm, intracranial berry|saccular cerebral aneurysm|familial intracranial saccular aneurysm|familial cerebral saccular aneurysm|familial aneurysmal subarachnoid hemorrhage	http://purl.obolibrary.org/obo/MONDO_0016483	https://omim.org/phenotypicSeries/PS105800|DOID:0060228|http://identifiers.org/snomedct/703226008|Orphanet:231160|UMLS:CN230268	ordo_disease
GO:0033143	biolink:NamedThing	regulation of intracellular steroid hormone receptor signaling pathway	Any process that modulates the frequency, rate or extent of the activity of any intracellular steroid hormone receptor signaling pathway.		mondo.json	regulation of steroid hormone receptor signaling pathway|regulation of steroid hormone receptor signalling pathway	http://purl.obolibrary.org/obo/GO_0033143		
MONDO:0016484	biolink:Disease	Usher syndrome type 2	A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa.	UMLS:C0339534|ICD10CM:H35.5|Orphanet:231178|NCIT:C126328|SCTID:232058008|DOID:0110827	mondo.json	Usher syndrome type 2|USH2	http://purl.obolibrary.org/obo/MONDO_0016484	UMLS:C0339534|http://identifiers.org/snomedct/232058008|NCIT:C126328|DOID:0110827|Orphanet:231178	ordo_clinical_subtype|clingen
MONDO:0016478	biolink:Disease	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion		UMLS:CN201473|Orphanet:231130	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016478	Orphanet:231130|UMLS:CN201473	ordo_etiological_subtype
MONDO:0016479	biolink:Disease	silver-Russell syndrome due to 7p11.2p13 microduplication		Orphanet:231137|UMLS:CN201474	mondo.json	Silver-Russell syndrome due to trisomy 7p11.2-p13|Silver-Russell syndrome due to dup(7)(p11.2p13)|Silver-Russell syndrome due to 7p11.2-p13 microduplication|Silver-Russell syndrome due to trisomy 7p11.2p13	http://purl.obolibrary.org/obo/MONDO_0016479	Orphanet:231137|UMLS:CN201474	ordo_etiological_subtype
MONDO:0041403	biolink:Disease	toxic amblyopia	A condition where a toxic reaction in the optic nerve results in visual loss. Various poisonous substances may cause the condition as well as nutritional factors.	SCTID:30483005	mondo.json	nutritional optic neuropathy|tobacco amblyopia	http://purl.obolibrary.org/obo/MONDO_0041403	http://identifiers.org/snomedct/30483005	
MONDO:0016474	biolink:Disease	drug-induced lupus erythematosus	An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs.	DOID:0040093|NCIT:C114354|UMLS:C0263591|SCTID:80258006|Orphanet:231111|MedDRA:10013706	mondo.json	DIL|drug-induced lupus|DILE|drug induced lupus|drug induced lupus erythematosus	http://purl.obolibrary.org/obo/MONDO_0016474	NCIT:C114354|UMLS:C0263591|http://identifiers.org/snomedct/80258006|DOID:0040093|Orphanet:231111	ordo_disease
MONDO:0016475	biolink:Disease	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15		Orphanet:231117|UMLS:CN201470	mondo.json	Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15	http://purl.obolibrary.org/obo/MONDO_0016475	Orphanet:231117|UMLS:CN201470	ordo_etiological_subtype
MONDO:0016476	biolink:Disease	Beckwith-Wiedemann syndrome due to CDKN1C mutation		Orphanet:231120|UMLS:CN201471	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016476	Orphanet:231120|UMLS:CN201471	ordo_etiological_subtype
MONDO:0016477	biolink:Disease	Beckwith-Wiedemann syndrome due to 11p15 microdeletion		Orphanet:231127|UMLS:CN201472	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016477	Orphanet:231127|UMLS:CN201472	ordo_etiological_subtype
MONDO:0016470	biolink:Disease	Ehlers-Danlos/osteogenesis imperfecta syndrome	Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.	MESH:C565178|UMLS:CN201460|Orphanet:230857|OMIMPS:619115	mondo.json	EDS/OI syndrome	http://purl.obolibrary.org/obo/MONDO_0016470	UMLS:CN201460|http://identifiers.org/mesh/C565178|Orphanet:230857|https://omim.org/phenotypicSeries/PS619115	ordo_disease
MONDO:0016471	biolink:Disease	pachyonychia congenita	Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.	GARD:0010753|OMIMPS:167200|UMLS:C0265334|Orphanet:2309|NCIT:C84986|MESH:D053549|DOID:0050449	mondo.json	pachyonychia congenita, Jadassohn-Lewandowsky type|pachyonychia congenita type 1|Jackson-Lawler type pachyonychia congenita|pachyonychia congenita syndrome|PC|congenital pachyonychia|Jadassohn-Lewandowsky syndrome	http://purl.obolibrary.org/obo/MONDO_0016471	UMLS:C0265334|DOID:0050449|http://identifiers.org/mesh/D053549|https://omim.org/phenotypicSeries/PS167200|NCIT:C84986|Orphanet:2309	gard_rare|ordo_disease
MONDO:0016472	biolink:Disease	dracunculiasis	Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas).	ICD10CM:B72|SCTID:396334002|NCIT:C84677|UMLS:C0013100|DOID:14418|MedDRA:10013618|MESH:D004320|Orphanet:231|ICD9:125.7|GARD:0006286|EFO:0007241	mondo.json	dracontiasis|Dracunculus medinensis infectious disease|Dracunculus medinensis caused disease or disorder|parasitic infection caused by Dracunculus medinensis|infection by Dracunculus medinensis|Dracunculus medinensis disease or disorder|medinensis|Guinea worm infection|GWD|Guinea worm disease|Dracunculosis|Medina worm disease	http://purl.obolibrary.org/obo/MONDO_0016472	UMLS:C0013100|http://identifiers.org/snomedct/396334002|Orphanet:231|http://purl.bioontology.org/ontology/ICD10CM/B72|DOID:14418|http://identifiers.org/mesh/D004320|NCIT:C84677	ordo_disease|gard_rare
MONDO:0016473	biolink:Disease	familial rhabdoid tumor	A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma.	UMLS:CN201468|NCIT:C93268|Orphanet:231108|OMIMPS:609322|UMLS:C2985524	mondo.json	hereditary rhabdoid tumor|familial rhabdoid tumor|RTPS|rhabdoid predisposition syndrome|rhabdoid tumor predisposition syndrome|familial posterior fossa brain tumor syndrome of infancy	http://purl.obolibrary.org/obo/MONDO_0016473	UMLS:CN201468|NCIT:C93268|https://omim.org/phenotypicSeries/PS609322|UMLS:C2985524|Orphanet:231108	ordo_clinical_subtype
CHEBI:24400	biolink:ChemicalSubstance	glycoside	A glycosyl compound resulting from the attachment of a glycosyl group to a non-acyl group RO-, RS-, RSe-, etc. The bond between the glycosyl group and the non-acyl group is called a glycosidic bond. By extension, the terms N-glycosides and C-glycosides are used as class names for glycosylamines and for compounds having a glycosyl group attached to a hydrocarbyl group respectively. These terms are misnomers and should not be used. The preferred terms are glycosylamines and C-glycosyl compounds, respectively.		mondo.json	glycosides|O-glycosides|O-glycoside|glycosides	http://purl.obolibrary.org/obo/CHEBI_24400		
GO:1901606	biolink:NamedThing	alpha-amino acid catabolic process	The chemical reactions and pathways resulting in the breakdown of an alpha-amino acid.		mondo.json	alpha-amino acid degradation|alpha-amino acid catabolism|alpha-amino acid breakdown	http://purl.obolibrary.org/obo/GO_1901606		
GO:1901607	biolink:NamedThing	alpha-amino acid biosynthetic process	The chemical reactions and pathways resulting in the formation of an alpha-amino acid.		mondo.json	alpha-amino acid biosynthesis|alpha-amino acid anabolism|alpha-amino acid synthesis|alpha-amino acid formation	http://purl.obolibrary.org/obo/GO_1901607		
GO:1901605	biolink:NamedThing	alpha-amino acid metabolic process	The chemical reactions and pathways involving an alpha-amino acid.		mondo.json	alpha-amino acid metabolism	http://purl.obolibrary.org/obo/GO_1901605		
CHEBI:24402	biolink:ChemicalSubstance	glycosphingolipid	A glycosphingolipid is a glycolipid that is a carbohydrate-containing derivative of a sphingoid or ceramide. It is understood that the carbohydrate residue is attached by a glycosidic linkage to O-1 of the sphingoid.		mondo.json	glycosphingolipids	http://purl.obolibrary.org/obo/CHEBI_24402		
GO:0045117	biolink:NamedThing	azole transmembrane transport	The directed movement of azoles, heterocyclic compounds found in many biologically important substances, across a lipid bilayer, across a membrane.		mondo.json	azole transport	http://purl.obolibrary.org/obo/GO_0045117		
GO:0045111	biolink:NamedThing	intermediate filament cytoskeleton	Cytoskeletal structure made from intermediate filaments, typically organized in the cytosol as an extended system that stretches from the nuclear envelope to the plasma membrane. Some intermediate filaments run parallel to the cell surface, while others traverse the cytosol; together they form an internal framework that helps support the shape and resilience of the cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0045111		
UBERON:0001271	biolink:AnatomicalEntity	pelvic girdle region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001271		
UBERON:0001270	biolink:AnatomicalEntity	bony pelvis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001270		
UBERON:0001273	biolink:AnatomicalEntity	ilium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001273		
UBERON:0001272	biolink:AnatomicalEntity	innominate bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001272		
UBERON:0001279	biolink:AnatomicalEntity	portal triad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001279		
UBERON:0001278	biolink:AnatomicalEntity	epithelium of large intestine			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001278		
GO:0060759	biolink:NamedThing	regulation of response to cytokine stimulus	Any process that modulates the rate, frequency, or extent of a response to cytokine stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0060759		
NCBITaxon:33259	biolink:OrganismalEntity	Toxocaridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_33259		
NCBITaxon:33256	biolink:OrganismalEntity	Ascaridoidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_33256		
UBERON:0001275	biolink:AnatomicalEntity	pubis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001275		
UBERON:0001274	biolink:AnatomicalEntity	ischium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001274		
UBERON:0001277	biolink:AnatomicalEntity	intestinal epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001277		
UBERON:0001276	biolink:AnatomicalEntity	epithelium of stomach			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001276		
MONDO:0004405	biolink:Disease	Barrett adenocarcinoma	An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas. -- 2002	NCIT:C7027|DOID:7941|EFO:1001939|UMLS:C1332460|SCTID:721617001	mondo.json	Barrett adenocarcinoma|Barrett's adenocarcinoma|adenocarcinoma arising in Barrett's mucosa	http://purl.obolibrary.org/obo/MONDO_0004405	DOID:7941|UMLS:C1332460|NCIT:C7027|http://identifiers.org/snomedct/721617001	
MONDO:0004404	biolink:Disease	refractory precursor T-lymphoblastic lymphoma/leukemia	T-lymphoblastic leukemia/lymphoma resistant to treatment	DOID:7936|UMLS:C0854859|NCIT:C8696	mondo.json	refractory precursor T-lymphoblastic lymphoma/leukemia|refractory T lymphoblastic leukemia/lymphoma|precursor T lymphoblastic lymphoma/leukemia refractory	http://purl.obolibrary.org/obo/MONDO_0004404	DOID:7936|NCIT:C8696|UMLS:C0854859	
MONDO:0004407	biolink:Disease	stroma-dominant and stroma-poor composite ganglioneuroblastoma	A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which is the predominant component of the tumor volume.	DOID:7949|UMLS:C1516761|NCIT:C42060	mondo.json	composite ganglioneuroblastoma, Stroma-dominant and Stroma-poor	http://purl.obolibrary.org/obo/MONDO_0004407	UMLS:C1516761|DOID:7949|NCIT:C42060	
GO:1901617	biolink:NamedThing	organic hydroxy compound biosynthetic process	The chemical reactions and pathways resulting in the formation of organic hydroxy compound.		mondo.json	organic hydroxy compound anabolism|organic hydroxy compound synthesis|organic hydroxy compound formation|organic hydroxy compound biosynthesis	http://purl.obolibrary.org/obo/GO_1901617		
UBERON:0013240	biolink:AnatomicalEntity	future glans clitoris			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013240		
MONDO:0004406	biolink:Disease	adult central nervous system mixed germ cell tumor	A mixed germ cell tumor of central nervous system that occurs in an adult.	DOID:7945|NCIT:C27402|UMLS:C1332195	mondo.json	mixed germ cell tumor of central nervous system of adults|adult mixed germ cell tumor of central nervous system|adult central nervous system mixed germ cell tumor|central nervous system Mixed germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0004406	UMLS:C1332195|DOID:7945|NCIT:C27402	
UBERON:0013241	biolink:AnatomicalEntity	embryonic urethral groove			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013241		
MONDO:0004401	biolink:Disease	testis refractory cancer	Malignant testicular germ cell tumor that is resistant to treatment.	UMLS:C1377904|DOID:7928|NCIT:C9077	mondo.json	refractory cancer of the testis|refractory testicular cancer|refractory malignant testicular germ cell tumor|refractory testicular carcinoma|refractory cancer of testis	http://purl.obolibrary.org/obo/MONDO_0004401	NCIT:C9077|UMLS:C1377904|DOID:7928	
GO:1901615	biolink:NamedThing	organic hydroxy compound metabolic process	The chemical reactions and pathways involving organic hydroxy compound.		mondo.json	organic hydroxy compound metabolism	http://purl.obolibrary.org/obo/GO_1901615		
MONDO:0004400	biolink:Disease	malignant type A thymoma	A type A thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize.	UMLS:C0279707|ICDO:8581/3|NCIT:C7999|DOID:7927	mondo.json	thymoma, medullary, malignant|malignant type A thymoma	http://purl.obolibrary.org/obo/MONDO_0004400	UMLS:C0279707|NCIT:C7999|DOID:7927	
GO:1901616	biolink:NamedThing	organic hydroxy compound catabolic process	The chemical reactions and pathways resulting in the breakdown of organic hydroxy compound.		mondo.json	organic hydroxy compound degradation|organic hydroxy compound catabolism|organic hydroxy compound breakdown	http://purl.obolibrary.org/obo/GO_1901616		
MONDO:0004403	biolink:Disease	childhood precursor T-lymphoblastic lymphoma/leukemia	A T lymphoblastic leukemia/lymphoma that occurs during childhood.	DOID:7933|UMLS:C1332997|NCIT:C5640	mondo.json	childhood precursor T-lymphoblastic lymphoma/leukemia|precursor T-lymphoblastic lymphoma/leukemia of childhood|childhood T lymphoblastic leukemia/lymphoma|pediatric precursor T-lymphoblastic lymphoma/leukemia	http://purl.obolibrary.org/obo/MONDO_0004403	UMLS:C1332997|NCIT:C5640	
MONDO:0004402	biolink:Disease	testicular yolk sac tumor, glandular-alveolar pattern	A yolk sac tumor that arises from the testis and is characterized by the presence of gland-like spaces, irregular alveoli, and tubular structures.	NCIT:C39926|DOID:7930|UMLS:C1515305	mondo.json	glandular-alveolar pattern testicular yolk sac tumor|testicular yolk sac tumor, glandular-alveolar pattern	http://purl.obolibrary.org/obo/MONDO_0004402	DOID:7930|NCIT:C39926|UMLS:C1515305	
UBERON:0013247	biolink:AnatomicalEntity	male paramesonephric duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013247		
GO:0045124	biolink:NamedThing	regulation of bone resorption	Any process that modulates the frequency, rate or extent of bone tissue loss (resorption).		mondo.json		http://purl.obolibrary.org/obo/GO_0045124		
GO:0045121	biolink:NamedThing	membrane raft	Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.		mondo.json	GEM domain|glycolipid-enriched membrane domain|lipid raft	http://purl.obolibrary.org/obo/GO_0045121		
UBERON:0037237	biolink:AnatomicalEntity	wall of lacrimal duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0037237		
UBERON:0001260	biolink:AnatomicalEntity	serosa of urinary bladder			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001260		
UBERON:0001262	biolink:AnatomicalEntity	wall of intestine			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001262		
UBERON:0001261	biolink:AnatomicalEntity	lamina propria of urinary bladder			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001261		
UBERON:0013239	biolink:AnatomicalEntity	future glans penis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013239		
UBERON:0001268	biolink:AnatomicalEntity	peritoneal fluid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001268		
UBERON:0001267	biolink:AnatomicalEntity	femoral nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001267		
HGNC:16501	biolink:NamedThing	PDLIM4			mondo.json		http://identifiers.org/hgnc/16501		
UBERON:0001264	biolink:AnatomicalEntity	pancreas			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001264		
UBERON:0001263	biolink:AnatomicalEntity	pancreatic acinus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001263		
UBERON:0001265	biolink:AnatomicalEntity	trabecula of spleen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001265		
NCBITaxon:45219	biolink:OrganismalEntity	Guanarito mammarenavirus		GC_ID:1	mondo.json	GTOV|Guanarito virus|Guanarito arenavirus	http://purl.obolibrary.org/obo/NCBITaxon_45219		
UBERON:0013235	biolink:AnatomicalEntity	ventrum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013235		
GO:0045137	biolink:NamedThing	development of primary sexual characteristics	The process whose specific outcome is the progression of the primary sexual characteristics over time, from their formation to the mature structures. The primary sexual characteristics are the testes in males and the ovaries in females and they develop in response to sex hormone secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_0045137		
UBERON:0013238	biolink:AnatomicalEntity	future glans			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013238		
UBERON:0013231	biolink:AnatomicalEntity	sebaceous gland of eyelid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013231		
UBERON:0013232	biolink:AnatomicalEntity	serous acinus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013232		
GO:0045132	biolink:NamedThing	meiotic chromosome segregation	The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets during M phase of the meiotic cell cycle.		mondo.json		http://purl.obolibrary.org/obo/GO_0045132		
FOODON:03420110	biolink:NamedThing	peel, core or seed			mondo.json		http://purl.obolibrary.org/obo/FOODON_03420110		
UBERON:0001251	biolink:AnatomicalEntity	marginal zone of spleen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001251		
UBERON:0001250	biolink:AnatomicalEntity	red pulp of spleen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001250		
UBERON:0013228	biolink:AnatomicalEntity	sweat gland of eyelid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013228		
UBERON:0013229	biolink:AnatomicalEntity	eyelid gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013229		
FOODON:03420113	biolink:NamedThing	mammalian milk or milk component	A broad term that includes milk and its components, cream, curd and whey; use the appropriate specific term when milk or a milk product is the principal ingredient. Use the appropriate term under *MEAT ANIMAL* to index the source of the milk (note: 21 CFR 131.110 defines milk as cow's milk).		mondo.json		http://purl.obolibrary.org/obo/FOODON_03420113		
UBERON:0025261	biolink:AnatomicalEntity	thalamic fiber tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0025261		
UBERON:0001257	biolink:AnatomicalEntity	trigone of urinary bladder			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001257		
UBERON:0001256	biolink:AnatomicalEntity	wall of urinary bladder			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001256		
FOODON:03420116	biolink:NamedThing	part of organism	Anatomical part of the plant or animal from which a food product or its major ingredient is derived.		mondo.json		http://purl.obolibrary.org/obo/FOODON_03420116		
UBERON:0001259	biolink:AnatomicalEntity	mucosa of urinary bladder			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001259		
UBERON:0001258	biolink:AnatomicalEntity	neck of urinary bladder			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001258		
UBERON:0001253	biolink:AnatomicalEntity	lamina propria of ureter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001253		
UBERON:0001252	biolink:AnatomicalEntity	adventitia of ureter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001252		
UBERON:0001255	biolink:AnatomicalEntity	urinary bladder			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001255		
UBERON:0001254	biolink:AnatomicalEntity	urothelium of ureter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001254		
UBERON:0001238	biolink:AnatomicalEntity	lamina propria of small intestine			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001238		
GO:0045144	biolink:NamedThing	meiotic sister chromatid segregation	The cell cycle process in which sister chromatids are organized and then physically separated and randomly apportioned to two sets during the second division of the meiotic cell cycle.		mondo.json	meiosis II, chromosome segregation	http://purl.obolibrary.org/obo/GO_0045144		
GO:0060760	biolink:NamedThing	positive regulation of response to cytokine stimulus	Any process that increases the rate, frequency, or extent of a response to cytokine stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0060760		
GO:0060761	biolink:NamedThing	negative regulation of response to cytokine stimulus	Any process that decreases the rate, frequency, or extent of a response to cytokine stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0060761		
GO:0060764	biolink:NamedThing	cell-cell signaling involved in mammary gland development	Any process that mediates the transfer of information from one cell to another and contributes to the progression of the mammary gland, from its initial state to the mature structure.		mondo.json	cell-cell signalling involved in mammary gland development	http://purl.obolibrary.org/obo/GO_0060764		
SO:0000209	biolink:SequenceFeature	rRNA_primary_transcript	A primary transcript encoding a ribosomal RNA.		mondo.json	ribosomal RNA primary transcript|rRNA primary transcript	http://purl.obolibrary.org/obo/SO_0000209		
GO:0060765	biolink:NamedThing	regulation of androgen receptor signaling pathway	Any process that modulates the rate, frequency, or extent of the androgen receptor signaling pathway.		mondo.json	regulation of androgen receptor signalling pathway	http://purl.obolibrary.org/obo/GO_0060765		
GO:0060766	biolink:NamedThing	negative regulation of androgen receptor signaling pathway	Any process that decreases the rate, frequency, or extent of the androgen receptor signaling pathway.		mondo.json	negative regulation of androgen receptor signalling pathway	http://purl.obolibrary.org/obo/GO_0060766		
UBERON:0001246	biolink:AnatomicalEntity	interlobular bile duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001246		
UBERON:0001245	biolink:AnatomicalEntity	anus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001245		
UBERON:0001248	biolink:AnatomicalEntity	hilum of spleen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001248		
UBERON:0001247	biolink:AnatomicalEntity	falciform ligament			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001247		
UBERON:0001242	biolink:AnatomicalEntity	intestinal mucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001242		
UBERON:0001243	biolink:AnatomicalEntity	serosa of intestine			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001243		
MONDO:0004438	biolink:Disease	sporadic breast cancer	A carcinoma that arises from the breast and is not caused by inherited genetic mutations.	DOID:8029|UMLS:C1336076|NCIT:C7566	mondo.json	sporadic breast cancer|sporadic breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0004438	NCIT:C7566|UMLS:C1336076|DOID:8029	
MONDO:0004437	biolink:Disease	obsolete gastric signet ring cell adenocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004437		
MONDO:0004439	biolink:Disease	periocular meningioma	A meningioma that affects the periocular region.	UMLS:C1335383|NCIT:C6777|DOID:8030	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004439	NCIT:C6777|DOID:8030|UMLS:C1335383	
MONDO:0004434	biolink:Disease	obsolete glomangiomyoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004434		
MONDO:0004433	biolink:Disease	papillary carcinoma of the penis	A squamous cell carcinoma that arises from the penis and is characterized by the presence of a papillary growth pattern.	DOID:8013|UMLS:C1335322|NCIT:C6983	mondo.json	squamous carcinoma of the penis, papillary type|papillary squamous carcinoma of the penis|papillary squamous carcinoma of penis|papillary carcinoma of the penis|papillary penile squamous carcinoma|papillary carcinoma of penis|papillary penile carcinoma|penis papillary carcinoma|squamous carcinoma of penis, papillary type	http://purl.obolibrary.org/obo/MONDO_0004433	NCIT:C6983|DOID:8013|UMLS:C1335322	
MONDO:0004436	biolink:Disease	ovarian myxoid liposarcoma	A liposarcoma that arises from the ovary and is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma.	NCIT:C5235|UMLS:C1335170|DOID:8023	mondo.json	myxoid liposarcoma of the ovary|ovary myxoid liposarcoma|ovarian myxoid liposarcoma|myxoid liposarcoma of ovary	http://purl.obolibrary.org/obo/MONDO_0004436	NCIT:C5235|DOID:8023|UMLS:C1335170	
SO:0000240	biolink:SequenceFeature	chromosome_variation	A deviation in chromosome structure or number.		mondo.json	chromosome variation	http://purl.obolibrary.org/obo/SO_0000240		
MONDO:0004435	biolink:Disease	liver fibrosarcoma	A usually aggressive malignant neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	UMLS:C1333966|DOID:8022|NCIT:C5832	mondo.json	hepatic fibrosarcoma|fibrosarcoma of the liver|fibrosarcoma of liver|liver fibrosarcoma (disease)|liver fibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0004435	DOID:8022|NCIT:C5832|UMLS:C1333966	
MONDO:0004430	biolink:Disease	penis mixed squamous cell carcinoma	A squamous cell carcinoma that arises from the penis and is characterized by a mixture of morphologic patterns (e.g., high grade squamous cell carcinoma and verrucous carcinoma or warty-basaloid carcinoma).	UMLS:C1513369|DOID:8009|NCIT:C39959	mondo.json	mixed squamous cell carcinoma of the penis	http://purl.obolibrary.org/obo/MONDO_0004430	DOID:8009|NCIT:C39959|UMLS:C1513369	
MONDO:0004432	biolink:Disease	mature pericardial teratoma	A benign teratoma that arises from the pericardium.	UMLS:C1334638|DOID:8012|NCIT:C6744	mondo.json	benign pericardial teratoma|mature pericardial teratoma|mature teratoma of pericardium|pericardium mature teratoma|mature teratoma of the pericardium	http://purl.obolibrary.org/obo/MONDO_0004432	NCIT:C6744|DOID:8012|UMLS:C1334638	
MONDO:0004431	biolink:Disease	hemarthrosis	Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia.	ICD9:719.18|SCTID:81808003|ICD9:719.1|UMLS:C0158159|EFO:1001344|DOID:801|MESH:D006395|ICD9:719.10	mondo.json	hemarthrosis of shoulder region|hemarthrosis involving hand|hemarthrosis of upper arm|hemarthrosis involving ankle and foot|hemarthrosis involving forearm|haemarthrosis of the pelvic region and thigh|hemarthrosis of the pelvic region and thigh|hemarthrosis involving upper arm|hemarthrosis of shoulder|hemarthrosis of hand|hemarthrosis of the ankle and foot|haemarthrosis of the ankle and foot|hemarthrosis of the hand|hemarthrosis involving lower leg|hemarthrosis of the ankle and/or foot|hemarthrosis of ankle and/or foot|hemarthrosis of the forearm|haemarthrosis of shoulder joint|hemarthrosis involving shoulder region|hemarthrosis of the lower leg|hemarthrosis of forearm|hemarthrosis involving pelvic region and thigh|hemarthrosis of lower leg|hemarthrosis of the upper arm|hemarthrosis of the shoulder region	http://purl.obolibrary.org/obo/MONDO_0004431	http://identifiers.org/mesh/D006395|http://identifiers.org/snomedct/81808003|UMLS:C0158159|DOID:801	
MONDO:0016427	biolink:Disease	obsolete coccidioidomycosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016427		
MONDO:0016428	biolink:Disease	multiple sclerosis variant		Orphanet:228145	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016428	Orphanet:228145	ordo_group_of_disorders|disease_grouping
MONDO:0016429	biolink:Disease	Marburg acute multiple sclerosis	Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients.	Orphanet:228157|SCTID:766246000	mondo.json	acute multiple sclerosis, Marburg type|acute multiple sclerosis, Marburg variant	http://purl.obolibrary.org/obo/MONDO_0016429	http://identifiers.org/snomedct/766246000|Orphanet:228157	ordo_disease
GO:0060795	biolink:NamedThing	cell fate commitment involved in formation of primary germ layer	The commitment of cells to specific cell fates of the endoderm, ectoderm, or mesoderm as a part of gastrulation.		mondo.json		http://purl.obolibrary.org/obo/GO_0060795		
MONDO:0016423	biolink:Disease	autoimmune polyendocrinopathy type 4		SCTID:449730005|UMLS:C3266026|Orphanet:227990|ICD9:258.1|UMLS:CN201378	mondo.json	APS4|autoimmune polyendocrine syndrome type 4|autoimmune polyglandular syndrome type 4|APS type 4	http://purl.obolibrary.org/obo/MONDO_0016423	http://identifiers.org/snomedct/449730005|UMLS:CN201378|Orphanet:227990|UMLS:C3266026	ordo_disease
MONDO:0016424	biolink:Disease	progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome	Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.	OMIM:606346|UMLS:CN201381|Orphanet:228012	mondo.json	progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome|progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome|progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome	http://purl.obolibrary.org/obo/MONDO_0016424	Orphanet:228012|UMLS:CN201381	ordo_disease
MONDO:0016425	biolink:Disease	Hughes-Stovin syndrome	Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of BehC'et's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis.	Orphanet:228116|UMLS:CN201382|SCTID:721226005	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016425	Orphanet:228116|UMLS:CN201382|http://identifiers.org/snomedct/721226005	ordo_disease
MONDO:0016426	biolink:Disease	fusariosis	Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections.	Orphanet:228119|DOID:0050289|MESH:D060585|SCTID:64250002|MedDRA:10051919|EFO:1001795	mondo.json	Fusarium infection|Fusarium infectious disease|Fusarium caused disease or disorder|Fusarium disease or disorder	http://purl.obolibrary.org/obo/MONDO_0016426	http://identifiers.org/snomedct/64250002|Orphanet:228119|http://identifiers.org/mesh/D060585|DOID:0050289	ordo_disease
MONDO:0016420	biolink:Disease	familial flecked retinopathy		Orphanet:227786|UMLS:CN226924|ICD10CM:H35.5	mondo.json	hereditary flecked retinopathy	http://purl.obolibrary.org/obo/MONDO_0016420	Orphanet:227786|UMLS:CN226924	ordo_group_of_disorders|disease_grouping
MONDO:0016421	biolink:Disease	toxic oil syndrome	Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates.	Orphanet:227972|MedDRA:10051222|SCTID:239910001	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016421	Orphanet:227972|http://identifiers.org/snomedct/239910001	ordo_disease
NCBITaxon:59848	biolink:OrganismalEntity	Chrysopsini		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_59848		
MONDO:0016422	biolink:Disease	autoimmune polyendocrinopathy type 3	A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease.	SCTID:449731009|Orphanet:227982|UMLS:C3266027|UMLS:C1535942|ICD9:258.1|GARD:0010980	mondo.json	APS type 3|PAS3|polyglandular autoimmune syndrome type 3|APS3|autoimmune polyendocrine syndrome type 3|autoimmune polyglandular syndrome type 3	http://purl.obolibrary.org/obo/MONDO_0016422	http://identifiers.org/snomedct/449731009|UMLS:C1535942|Orphanet:227982|UMLS:C3266027	ordo_disease
MONDO:0004449	biolink:Disease	intraductal breast myoepitheliosis	A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within small breast ducts.	DOID:8068|NCIT:C40387|UMLS:C1512935	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004449	UMLS:C1512935|DOID:8068|NCIT:C40387	
MONDO:0004448	biolink:Disease	frontal sinus inverted papilloma	A benign neoplasm that arises from the ciliated respiratory mucosa that lines the frontal sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.	UMLS:C1333644|NCIT:C6842|DOID:8060	mondo.json	inverted papilloma of frontal sinus|inverted papilloma of the frontal sinus|frontal sinus inverted papilloma	http://purl.obolibrary.org/obo/MONDO_0004448	NCIT:C6842|DOID:8060|UMLS:C1333644	
SO:0000233	biolink:SequenceFeature	mature_transcript	A transcript which has undergone the necessary modifications, if any, for its function. In eukaryotes this includes, for example, processing of introns, cleavage, base modification, and modifications to the 5' and/or the 3' ends, other than addition of bases. In bacteria functional mRNAs are usually not modified.		mondo.json	mature transcript	http://purl.obolibrary.org/obo/SO_0000233		
MONDO:0004445	biolink:Disease	bladder papillary clear cell adenocarcinoma	A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a papillary pattern.	NCIT:C39848|DOID:8051|UMLS:C1511196	mondo.json	bladder papillary clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004445	NCIT:C39848|DOID:8051|UMLS:C1511196	
MONDO:0004444	biolink:Disease	bladder tubulo-cystic clear cell adenocarcinoma	A rare morphologic variant of bladder carcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a tubulo-cystic pattern.	NCIT:C39847|UMLS:C1511203|DOID:8050	mondo.json	bladder tubulo-cystic clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004444	DOID:8050|NCIT:C39847|UMLS:C1511203	
MONDO:0004447	biolink:Disease	pituitary stalk meningioma	A meningioma that affects the pituitary stalk.	DOID:8058|UMLS:C1335422|NCIT:C5311	mondo.json	meningioma of pituitary stalk|pituitary stalk meningioma (disease)|meningioma of the pituitary stalk|meningioma (disease) of pituitary stalk	http://purl.obolibrary.org/obo/MONDO_0004447	NCIT:C5311|DOID:8058|UMLS:C1335422	
UBERON:0013280	biolink:AnatomicalEntity	diaphysis of tibia			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013280		
MONDO:0004446	biolink:Disease	olfactory groove meningioma	A meningioma that affects the olfactory sulcus.	NCIT:C6771|UMLS:C1335107|DOID:8057	mondo.json	meningioma of olfactory groove|olfactory sulcus meningioma (disease)|meningioma of the olfactory groove|meningioma (disease) of olfactory sulcus	http://purl.obolibrary.org/obo/MONDO_0004446	NCIT:C6771|DOID:8057|UMLS:C1335107	
MONDO:0004441	biolink:Disease	childhood ovarian embryonal carcinoma	An embryonal carcinoma that arises from the ovary and occurs in children.	UMLS:C1332989|DOID:8036|NCIT:C6546	mondo.json	pediatric embryonal carcinoma of the ovary|pediatric ovarian embryonal carcinoma|ovarian embryonal carcinoma of childhood|childhood embryonal carcinoma of the ovary|pediatric embryonal carcinoma of ovary|childhood embryonal carcinoma of ovary	http://purl.obolibrary.org/obo/MONDO_0004441	NCIT:C6546|DOID:8036|UMLS:C1332989	
MONDO:0004440	biolink:Disease	pineal region meningioma	A meningioma that affects the pineal gland.	UMLS:C1335418|DOID:8031|NCIT:C6756	mondo.json	meningioma of pineal area|pineal body meningioma (disease)|pineal meningioma|meningioma of pineal gland|meningioma (disease) of pineal body|meningioma of the pineal gland|meningioma of the pineal region|meningioma of pineal region|pineal gland meningioma|meningioma of the pineal area|pineal area meningioma	http://purl.obolibrary.org/obo/MONDO_0004440	NCIT:C6756|DOID:8031|UMLS:C1335418	
CHR:9606-chr5p1	biolink:NamedThing	5p1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr5p1		
GO:1901653	biolink:NamedThing	cellular response to peptide	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_1901653		
MONDO:0004443	biolink:Disease	chest wall parachordoma	A parachordoma arising from the chest wall.	DOID:8043|UMLS:C1332934|NCIT:C6720	mondo.json	parachordoma of the chest wall|parachordoma of chest wall|chest wall parachordoma	http://purl.obolibrary.org/obo/MONDO_0004443	NCIT:C6720|DOID:8043|UMLS:C1332934	
MONDO:0004442	biolink:Disease	testis polyembryoma	A rare malignant germ cell tumor that arises from the testis and is characterized by the presence of embryoid bodies.	UMLS:C1514200|DOID:8042|NCIT:C40962	mondo.json	polyembryoma of testis|polyembryoma of the testis|testicular polyembryoma	http://purl.obolibrary.org/obo/MONDO_0004442	DOID:8042|UMLS:C1514200|NCIT:C40962	
MONDO:0016409	biolink:Disease	primary congenital hypothyroidism	Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.	Orphanet:226295	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016409	Orphanet:226295	disease_grouping|ordo_group_of_disorders
GO:0045168	biolink:NamedThing	cell-cell signaling involved in cell fate commitment	Signaling at long or short range between cells that results in the commitment of a cell to a certain fate.		mondo.json	cell-cell signaling resulting in cell fate commitment|cell-cell signalling involved in cell fate specification|cell-cell signaling during in cell fate commitment|cell fate commitment, cell-cell signalling|cell-cell signalling resulting in cell fate commitment|cell-cell signalling during cell fate commitment|cell fate commitment, cell-cell signaling	http://purl.obolibrary.org/obo/GO_0045168		
GO:1901652	biolink:NamedThing	response to peptide	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_1901652		
GO:0045165	biolink:NamedThing	cell fate commitment	The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field.		mondo.json		http://purl.obolibrary.org/obo/GO_0045165		
MONDO:0016416	biolink:Disease	diphallia		Orphanet:227|GARD:0001872|ICD9:752.69|SCTID:253851000	mondo.json	Diphallus	http://purl.obolibrary.org/obo/MONDO_0016416	Orphanet:227|http://identifiers.org/snomedct/253851000	ordo_morphological_anomaly|gard_rare
MONDO:0016417	biolink:Disease	congenital ichthyosis-microcephalus-tetraplegia syndrome		Orphanet:2271	mondo.json	congenital ichthyosis-microcephalus-quadriplegia syndrome	http://purl.obolibrary.org/obo/MONDO_0016417	Orphanet:2271	ordo_disease
GO:0060784	biolink:NamedThing	regulation of cell proliferation involved in tissue homeostasis	Any process that modulates the frequency, rate or extent of cell proliferation resulting in the maintenance of a steady-state number of cells within a tissue.		mondo.json		http://purl.obolibrary.org/obo/GO_0060784		
NCBITaxon:226665	biolink:OrganismalEntity	Rickettsia conorii subsp. heilongjiangensis		PMID:10970415|PMID:14662925|GC_ID:11	mondo.json	Rickettsia heilongjiangii|Rickettsia heilongjiangensis	http://purl.obolibrary.org/obo/NCBITaxon_226665		
MONDO:0016418	biolink:Disease	multiple system atrophy, cerebellar type	Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria).	Orphanet:227510|UMLS:CN201371	mondo.json	sporadic olivopontocerebellar atrophy type 1|sporadic OPCA type 1|MSA, cerebellar type|MSA-c	http://purl.obolibrary.org/obo/MONDO_0016418	Orphanet:227510|UMLS:CN201371	ordo_clinical_subtype
MONDO:0016419	biolink:Disease	hereditary breast carcinoma	Breast carcinoma that has developed in relatives of patients with history of breast carcinoma.	ICD10CM:C50.3|ICD10CM:C50.2|OMIM:114480|SCTID:254843006|Orphanet:227535|NCIT:C4503|ICD10CM:C50.6|MESH:C562840|UMLS:C0346153	mondo.json	breast cancer, lobular, somatic|familial breast carcinoma|familial breast cancer|hereditary breast cancer|breast cancer, invasive ductal, autosomal dominant, somatic mutation|breast cancer, protection against, autosomal dominant, somatic mutation|breast cancer, somatic|familial cancer of breast|familial cancer of the breast|breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation|breast cancer, susceptibility to, autosomal dominant, somatic mutation|breast cancer susceptibility, autosomal dominant, somatic mutation|breast cancer, male, susceptibility to, autosomal dominant, somatic mutation|breast cancer, familial Male|hereditary breast carcinoma|breast cancer, familial	http://purl.obolibrary.org/obo/MONDO_0016419	https://omim.org/entry/114480|http://identifiers.org/snomedct/254843006|http://identifiers.org/mesh/C562840|NCIT:C4503|UMLS:C0346153|Orphanet:227535	ordo_disease|clingen
GO:0060785	biolink:NamedThing	regulation of apoptosis involved in tissue homeostasis	Any process that modulates the occurrence or rate of cell death by apoptosis that results in the maintenance of the steady-state number of cells within a tissue.		mondo.json		http://purl.obolibrary.org/obo/GO_0060785		
MONDO:0016412	biolink:Disease	peripheral hypothyroidism	Peripheral hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism.	Orphanet:226310	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016412	Orphanet:226310	ordo_group_of_disorders|disease_grouping
GO:0060786	biolink:NamedThing	regulation of cell differentiation involved in tissue homeostasis	Any process that modulates the frequency, rate or extent of cell differentiation that contributes to the maintenance of a steady state of a cell type within a tissue.		mondo.json		http://purl.obolibrary.org/obo/GO_0060786		
NCBITaxon:9005	biolink:OrganismalEntity	Phasianidae		GC_ID:1	mondo.json	turkeys	http://purl.obolibrary.org/obo/NCBITaxon_9005		
MONDO:0016413	biolink:Disease	congenital hypothyroidism due to maternal intake of antithyroid drugs		Orphanet:226313	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016413	Orphanet:226313	ordo_disease
MONDO:0016414	biolink:Disease	hypotrichosis-intellectual disability, Lopes type	Hypotrichosis-intellectual disability, Lopes type is characterised by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive.	Orphanet:2266|UMLS:CN201347	mondo.json	Lopes-Marques de Faria syndrome	http://purl.obolibrary.org/obo/MONDO_0016414	Orphanet:2266|UMLS:CN201347	ordo_disease
MONDO:0016415	biolink:Disease	obsolete immunodeficiency-centromeric instability-facial anomalies syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016415		
MONDO:0016410	biolink:Disease	central congenital hypothyroidism	Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.	Orphanet:226298|GARD:0012280|NCIT:C113144	mondo.json	thyrotropin deficiency|central hypothyroidism|TSH deficiency|hypothalamic-pituitary hypothyroidism|secondary hypothyroidism|thyroid stimulating hormone deficiency	http://purl.obolibrary.org/obo/MONDO_0016410	NCIT:C113144|Orphanet:226298	gard_rare|ordo_group_of_disorders|disease_grouping
MONDO:0016411	biolink:Disease	hypothyroidism due to deficient transcription factors involved in pituitary development or function	Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.	UMLS:CN201345|Orphanet:226307	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016411	UMLS:CN201345|Orphanet:226307	ordo_disease
UBERON:4200230	biolink:AnatomicalEntity	surface of bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_4200230		
MONDO:0004416	biolink:Disease	plasmacytoid variant infiltrating bladder urothelial carcinoma		DOID:7968|ONCOTREE:SRCBC|NCIT:C39823|UMLS:C1512742	mondo.json	plasmacytoid/signet ring cell bladder carcinoma|infiltrating bladder urothelial carcinoma, plasmacytoid variant	http://purl.obolibrary.org/obo/MONDO_0004416	DOID:7968|UMLS:C1512742|NCIT:C39823	
GO:0070130	biolink:NamedThing	negative regulation of mitochondrial translation	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion.		mondo.json	negative regulation of mitochondrial protein biosynthesis|negative regulation of mitochondrial protein anabolism|negative regulation of mitochondrial protein synthesis|negative regulation of mitochondrial protein formation	http://purl.obolibrary.org/obo/GO_0070130		
GO:0070131	biolink:NamedThing	positive regulation of mitochondrial translation	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion.		mondo.json	positive regulation of mitochondrial protein anabolism|positive regulation of mitochondrial protein synthesis|positive regulation of mitochondrial protein biosynthesis|positive regulation of mitochondrial protein formation	http://purl.obolibrary.org/obo/GO_0070131		
MONDO:0004415	biolink:Disease	lipid-cell variant infiltrating bladder urothelial carcinoma		DOID:7967|NCIT:C39828|UMLS:C1512738	mondo.json	infiltrating bladder urothelial carcinoma, Lipid-cell variant	http://purl.obolibrary.org/obo/MONDO_0004415	UMLS:C1512738|NCIT:C39828|DOID:7967	
MONDO:0004418	biolink:Disease	microcystic variant infiltrating bladder urothelial carcinoma		UMLS:C1512740|NCIT:C39820|DOID:7971	mondo.json	infiltrating bladder urothelial carcinoma, microcystic variant	http://purl.obolibrary.org/obo/MONDO_0004418	DOID:7971|UMLS:C1512740|NCIT:C39820	
MONDO:0004417	biolink:Disease	nested variant infiltrating bladder urothelial carcinoma		DOID:7969|UMLS:C1512741|NCIT:C39819	mondo.json	infiltrating bladder urothelial carcinoma, nested variant	http://purl.obolibrary.org/obo/MONDO_0004417	DOID:7969|UMLS:C1512741|NCIT:C39819	
MONDO:0004412	biolink:Disease	malignant spiradenoma	A very rare, aggressive carcinoma of the sweat glands arising from malignant transformation of a long standing spiradenoma. It usually grows in the upper extremities, lower extremities, trunk, and head and neck. It has the tendency to recur and metastasize most often to the lymph nodes, bones, and lungs.	GARD:0010466|ICDO:8403/3|DOID:7960|UMLS:C1266063|NCIT:C5117|SCTID:403942003	mondo.json	Spiradenocarcinoma|malignant eccrine spiradenoma (morphologic abnormality)|malignant spiradenoma|spiradenoma, malignant|malignant eccrine spiradenoma	http://purl.obolibrary.org/obo/MONDO_0004412	NCIT:C5117|http://identifiers.org/snomedct/403942003|DOID:7960|UMLS:C1266063	
MONDO:0004411	biolink:Disease	duodenal gastrin-producing neuroendocrine tumor	A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm.	NCIT:C5731|UMLS:C1333321|DOID:7959|EFO:1000224	mondo.json	gastrin producing tumor of duodenum|gastrin producing tumor of the duodenum|gastrinoma of the duodenum|duodenal gastrin-producing NET|duodenal gastrinoma|gastrin-producing neuroendocrine tumor of duodenum|gastrinoma of duodenum|duodenal gastrin-producing neuroendocrine tumor|malignant duodenal gastrinoma|duodenal G-cell gastrin producing tumor|duodenum gastrin-producing neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0004411	NCIT:C5731|UMLS:C1333321|DOID:7959	
MONDO:0004414	biolink:Disease	tamoxifen-related endometrial lesion	A spectrum of endometrial abnormalities that occur in women who use tamoxifen to treat or prevent the development of breast cancer. These abnormalities include endometrial polyps, endometrial hyperplasia, and endometrial carcinoma.	UMLS:C1515212|DOID:7962|NCIT:C40159	mondo.json	tamoxifen-related endometrial disorder	http://purl.obolibrary.org/obo/MONDO_0004414	NCIT:C40159|UMLS:C1515212|DOID:7962	
MONDO:0004413	biolink:Disease	cervical non-keratinizing squamous cell carcinoma	A variant of cervical squamous cell carcinoma characterized by the presence of polygonal squamous cells. Intercellular bridges and cytoplasmic keratinization may be present, but keratin pearls are absent.	DOID:7961|NCIT:C40188|UMLS:C1518366	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004413	UMLS:C1518366|NCIT:C40188|DOID:7961	
UBERON:0013279	biolink:AnatomicalEntity	diaphysis of fibula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013279		
MONDO:0004410	biolink:Disease	sarcomatoid penile squamous cell carcinoma	A squamous cell carcinoma that arises from the penis and is characterized by the presence of malignant spindle-shaped cells.	UMLS:C1335923|NCIT:C6984|DOID:7958	mondo.json	sarcomatoid penile squamous cell carcinoma|spindle cell carcinoma of the penis|sarcomatoid carcinoma of the penis|sarcomatous carcinoma of the penis|sarcomatoid penile carcinoma|squamous cell carcinoma of the penis, sarcomatoid type|squamous cell carcinoma of penis, sarcomatoid type	http://purl.obolibrary.org/obo/MONDO_0004410	NCIT:C6984|UMLS:C1335923|DOID:7958	
GO:1901663	biolink:NamedThing	quinone biosynthetic process	The chemical reactions and pathways resulting in the formation of quinone.		mondo.json	quinone biosynthesis|quinone formation|quinone cofactor synthesis|quinone cofactor formation|quinone cofactor biosynthesis|quinone cofactor biosynthetic process|quinone anabolism|quinone synthesis|quinone cofactor anabolism	http://purl.obolibrary.org/obo/GO_1901663		
NCBITaxon:45258	biolink:OrganismalEntity	Rickettsia conorii subsp. israelensis		GC_ID:11|PMID:15766388	mondo.json	Israeli tick typhus rickettsia	http://purl.obolibrary.org/obo/NCBITaxon_45258		
GO:1901661	biolink:NamedThing	quinone metabolic process	The chemical reactions and pathways involving quinone.		mondo.json	quinone cofactor metabolic process|quinone metabolism|quinone cofactor metabolism	http://purl.obolibrary.org/obo/GO_1901661		
MONDO:0016405	biolink:Disease	obsolete sterol metabolism disorder with epilepsy		Orphanet:225710|UMLS:CN226918	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016405	UMLS:CN226918|Orphanet:225710	ordo_group_of_disorders
UBERON:0001293	biolink:AnatomicalEntity	outer medulla of kidney			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001293		
MONDO:0016406	biolink:Disease	obsolete other metabolic disease with epilepsy		UMLS:CN201333|Orphanet:225713	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016406	Orphanet:225713|UMLS:CN201333	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
UBERON:0001292	biolink:AnatomicalEntity	distal convoluted tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001292		
MONDO:0016407	biolink:Disease	oligomeganephronia	Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules.	GARD:4066|Orphanet:2260|SCTID:18417009|ICD10CM:Q60.4|GARD:0004066|UMLS:C0431694|NCIT:C123202|DOID:0111142	mondo.json	Oligomeganephronic renal hypoplasia	http://purl.obolibrary.org/obo/MONDO_0016407	http://identifiers.org/snomedct/18417009|DOID:0111142|UMLS:C0431694|NCIT:C123202|Orphanet:2260	ordo_morphological_anomaly
UBERON:0001295	biolink:AnatomicalEntity	endometrium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001295		
MONDO:0016408	biolink:Disease	permanent congenital hypothyroidism	Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth.	Orphanet:226292	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016408	Orphanet:226292	disease_grouping|ordo_group_of_disorders
UBERON:0001294	biolink:AnatomicalEntity	inner medulla of kidney			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001294		
MONDO:0016401	biolink:Disease	obsolete energy metabolism disorder with epilepsy		Orphanet:225696|UMLS:CN226915	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016401	UMLS:CN226915|Orphanet:225696	ordo_group_of_disorders
MONDO:0016402	biolink:Disease	obsolete mitochondrial disease with epilepsy		Orphanet:225700|UMLS:CN201331	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016402	Orphanet:225700|UMLS:CN201331	ordo_group_of_disorders
MONDO:0016403	biolink:Disease	obsolete mitochondrial disease with peripheral neuropathy		UMLS:CN201332|Orphanet:225703	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016403	Orphanet:225703|UMLS:CN201332	ordo_group_of_disorders
MONDO:0016404	biolink:Disease	obsolete metabolic neurotransmission anomaly with epilepsy		Orphanet:225707	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016404	Orphanet:225707	disease_grouping|ordo_group_of_disorders
UBERON:0001290	biolink:AnatomicalEntity	proximal straight tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001290		
MONDO:0016400	biolink:Disease	obsolete metal transport or utilization disorder with epilepsy		Orphanet:225692|UMLS:CN226914	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016400	UMLS:CN226914|Orphanet:225692	ordo_group_of_disorders
MONDO:0004409	biolink:Disease	nipple duct carcinoma	A carcinoma that develops in the ducts of the nipple.	NCIT:C27234|UMLS:C1334967|DOID:7953	mondo.json	nipple duct carcinoma	http://purl.obolibrary.org/obo/MONDO_0004409	DOID:7953|UMLS:C1334967|NCIT:C27234	
UBERON:0001297	biolink:AnatomicalEntity	serosa of uterus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001297		
GO:0070134	biolink:NamedThing	positive regulation of mitochondrial translational initiation	Any process that activates or increases the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion.		mondo.json	positive regulation of mitochondrial translation initiation	http://purl.obolibrary.org/obo/GO_0070134		
NCBITaxon:33278	biolink:OrganismalEntity	Ancylostomatidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_33278		
MONDO:0004408	biolink:Disease	schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma	A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which constitutes more than fifty-percent of the tumor volume.	UMLS:C1516760|DOID:7951|NCIT:C42059	mondo.json	composite ganglioneuroblastoma, Schwannian Stroma-rich and Stroma-poor	http://purl.obolibrary.org/obo/MONDO_0004408	UMLS:C1516760|DOID:7951|NCIT:C42059	
UBERON:0001296	biolink:AnatomicalEntity	myometrium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001296		
GO:0070132	biolink:NamedThing	regulation of mitochondrial translational initiation	Any process that modulates the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion.		mondo.json	regulation of mitochondrial translation initiation	http://purl.obolibrary.org/obo/GO_0070132		
UBERON:0001299	biolink:AnatomicalEntity	glans penis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001299		
GO:0070133	biolink:NamedThing	negative regulation of mitochondrial translational initiation	Any process that stops, prevents, or reduces the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion.		mondo.json	negative regulation of mitochondrial translation initiation	http://purl.obolibrary.org/obo/GO_0070133		
MONDO:0004427	biolink:Disease	supraglottis neoplasm	A benign or malignant neoplasm that affects the supraglottic area of the larynx.	UMLS:C0345726|NCIT:C6793|DOID:8002|SCTID:126697005	mondo.json	supraglottic neoplasm|supraglottis neoplasm|tumor of supraglottis|neoplasm of supraglottic part of larynx|tumor of the supraglottis|supraglottic part of larynx tumor|supraglottic part of larynx neoplasm|supraglottic tumor|neoplasm of supraglottis|tumor of supraglottic part of larynx|supraglottic part of larynx neoplasm (disease)|supraglottis tumor|neoplasm of the supraglottis	http://purl.obolibrary.org/obo/MONDO_0004427	NCIT:C6793|http://identifiers.org/snomedct/126697005|DOID:8002|UMLS:C0345726	
NCBITaxon:33264	biolink:OrganismalEntity	Dictyocaulidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_33264		
MONDO:0004426	biolink:Disease	frontal convexity meningioma	A meningioma that affects the frontal sulcus.	UMLS:C1333643|DOID:8000|NCIT:C5292	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004426	NCIT:C5292|DOID:8000|UMLS:C1333643	
SO:0000252	biolink:SequenceFeature	rRNA	rRNA is an RNA component of a ribosome that can provide both structural scaffolding and catalytic activity.		mondo.json	ribosomal ribonucleic acid|INSDC_feature:rRNA|INSDC_qualifier:unknown|ribosomal RNA	http://purl.obolibrary.org/obo/SO_0000252		
MONDO:0004429	biolink:Disease	skin meningioma	A meningioma (disease) that involves the zone of skin.	DOID:8006|UMLS:C1335481	mondo.json	zone of skin meningioma (disease)|meningioma (disease) of zone of skin|primary meningioma of the skin	http://purl.obolibrary.org/obo/MONDO_0004429	DOID:8006|UMLS:C1335481	
GO:0045184	biolink:NamedThing	establishment of protein localization	The directed movement of a protein to a specific location.		mondo.json	protein recruitment|establishment of protein localisation|protein positioning	http://purl.obolibrary.org/obo/GO_0045184		
MONDO:0004428	biolink:Disease	alveoli adenoma	A benign, well circumscribed lung neoplasm morphologically characterized by the presence of cystic spaces resembling alveoli, lined by a simple cuboidal epithelium. The cystic spaces are surrounded by a spindle cell stroma which may show myxoid changes. It is a solitary, usually peripheral lung lesion. Patients are usually asymptomatic and its discovery is an incidental finding during chest X-ray examination. Surgical excision is curative.	ICDO:8251/0|NCIT:C4140|UMLS:C0334303|DOID:8003	mondo.json	alveolar adenoma|adenoma of the alveoli|adenoma of alveoli|adenoma, bronchioloalveolar, benign|alveolar adenoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0004428	NCIT:C4140|DOID:8003|UMLS:C0334303	
MONDO:0004423	biolink:Disease	central nervous system extraskeletal osteosarcoma	An osteosarcoma arising from the brain or spinal cord.	NCIT:C7002|UMLS:C1335150|DOID:7994	mondo.json	central nervous system osteosarcoma|central nervous system osteosarcoma (disease)|osteosarcoma of central nervous system|osteosarcoma of the central nervous system|central nervous system extraskeletal osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0004423	NCIT:C7002|UMLS:C1335150|DOID:7994	
MONDO:0004422	biolink:Disease	cerebral falx meningioma	A meningioma that affects the falx cerebri.	DOID:7986|UMLS:C1333597|NCIT:C5267	mondo.json	meningioma (disease) of falx cerebri|meningioma of falx of cerebrum|falx cerebri meningioma|meningioma of falx cerebri|meningioma of the falx of the cerebrum|meningioma of the falx cerebri|falx cerebri meningioma (disease)|meningioma of the cerebral falx|meningioma of cerebral falx|Falcine meningioma	http://purl.obolibrary.org/obo/MONDO_0004422	NCIT:C5267|DOID:7986|UMLS:C1333597	
GO:0045182	biolink:NamedThing	translation regulator activity	Any molecular function involved in the initiation, activation, perpetuation, repression or termination of polypeptide synthesis at the ribosome.		mondo.json	translation factor activity	http://purl.obolibrary.org/obo/GO_0045182		
MONDO:0004425	biolink:Disease	hyperthyroidism	Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor.	MESH:D006980|DOID:7998|EFO:0009189|NCIT:C3123|ICD9:242.90|SCTID:34486009	mondo.json	overactive thyroid	http://purl.obolibrary.org/obo/MONDO_0004425	http://identifiers.org/snomedct/34486009|http://identifiers.org/mesh/D006980|NCIT:C3123|DOID:7998	
MONDO:0004424	biolink:Disease	obsolete familial glomangioma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004424		
MONDO:0004421	biolink:Disease	sclerosing breast papilloma	A breast papilloma characterized by the presence of predominant sclerosing architectural features.	NCIT:C27944|DOID:7984|UMLS:C1335932	mondo.json	sclerosing breast papilloma|Complex sclerosing papillary lesion of the breast|Complex sclerosing papillary lesion	http://purl.obolibrary.org/obo/MONDO_0004421	NCIT:C27944|UMLS:C1335932|DOID:7984	
MONDO:0004420	biolink:Disease	breast malignant eccrine spiradenoma	A rare tumor characterized by malignant transformation of an eccrine spiradenoma of the breast.	DOID:7983|UMLS:C1334565|NCIT:C5180	mondo.json	malignant eccrine spiradenoma of breast|malignant eccrine spiradenoma of the breast|malignant breast eccrine spiradenoma|malignant spiradenoma of breast|breast malignant spiradenoma	http://purl.obolibrary.org/obo/MONDO_0004420	NCIT:C5180|UMLS:C1334565|DOID:7983	
GO:0045187	biolink:NamedThing	regulation of circadian sleep/wake cycle, sleep	Any process that modulates the frequency, rate or extent of sleep; a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals.		mondo.json	regulation of sleep	http://purl.obolibrary.org/obo/GO_0045187		
UBERON:0001282	biolink:AnatomicalEntity	intralobular bile duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001282		
UBERON:0001281	biolink:AnatomicalEntity	hepatic sinusoid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001281		
GO:0070129	biolink:NamedThing	regulation of mitochondrial translation	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion.		mondo.json	regulation of mitochondrial protein anabolism|regulation of mitochondrial protein biosynthesis|regulation of mitochondrial protein synthesis|regulation of mitochondrial protein formation	http://purl.obolibrary.org/obo/GO_0070129		
UBERON:0001280	biolink:AnatomicalEntity	liver parenchyma			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001280		
UBERON:0001289	biolink:AnatomicalEntity	descending limb of loop of Henle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001289		
GO:0070125	biolink:NamedThing	mitochondrial translational elongation	The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis in a mitochondrion.		mondo.json	mitochondrial translation elongation	http://purl.obolibrary.org/obo/GO_0070125		
GO:0070126	biolink:NamedThing	mitochondrial translational termination	The process resulting in the release of a polypeptide chain from the ribosome in a mitochondrion, usually in response to a termination codon (note that mitochondria use variants of the universal genetic code that differ between different taxa).		mondo.json	mitochondrial translation termination	http://purl.obolibrary.org/obo/GO_0070126		
UBERON:0001285	biolink:AnatomicalEntity	nephron			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001285		
MONDO:0004419	biolink:Disease	lymphoma-like variant infiltrating bladder urothelial carcinoma		NCIT:C39822|DOID:7972|UMLS:C1512739	mondo.json	infiltrating bladder urothelial carcinoma, lymphoma-like variant	http://purl.obolibrary.org/obo/MONDO_0004419	DOID:7972|UMLS:C1512739|NCIT:C39822	
GO:0070124	biolink:NamedThing	mitochondrial translational initiation	The process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. This includes the formation of a complex of the ribosome, mRNA, and an initiation complex that contains the first aminoacyl-tRNA.		mondo.json	mitochondrial translation initiation	http://purl.obolibrary.org/obo/GO_0070124		
UBERON:0001288	biolink:AnatomicalEntity	loop of Henle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001288		
SO:0000248	biolink:SequenceFeature	sequence_length_alteration	A kind of kind of sequence alteration where the copies of a region present varies across a population.		mondo.json	sequence length alteration	http://purl.obolibrary.org/obo/SO_0000248		
NCBITaxon:33265	biolink:OrganismalEntity	Dictyocaulinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_33265		
UBERON:0001287	biolink:AnatomicalEntity	proximal convoluted tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001287		
MONDO:0100160	biolink:Disease	alcoholic ketoacidosis	An acute disease characterized by severe ketoacidosis in the absence of diabetes mellitus and occuring in individuals with a history of prolonged excessive alcohol consumption. Disease manifestations include nausea, intractable vomiting, and abdominal pain. When treated, AKA resolves rapidly and completely with no apparent sequelae.		mondo.json	alcoholic ketosis|alcoholic acidosis	http://purl.obolibrary.org/obo/MONDO_0100160		
SO:0002342	biolink:SequenceFeature	sncRNA_gene	A ncRNA_gene (SO:0001263) that is less than 200 nucleotides in length.		mondo.json	small non-coding RNA gene|sncRNA gene	http://purl.obolibrary.org/obo/SO_0002342		
MONDO:0100161	biolink:Disease	hyperkalemic renal tubular acidosis	Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels.	Orphanet:89939	mondo.json	type 4 renal tubular acidosis|type 4 RTA|hyperkalemic RTA|renal tubular acidosis type 4	http://purl.obolibrary.org/obo/MONDO_0100161	Orphanet:89939	
SO:0002343	biolink:SequenceFeature	cytosolic_rRNA	Cytosolic rRNA is an RNA component of the small or large subunits of cytosolic ribosomes.		mondo.json	cytosolic rRNA|cytosolic ribosomal RNA	http://purl.obolibrary.org/obo/SO_0002343		
MONDO:0100163	biolink:Disease	COVID-19–associated multisystem inflammatory syndrome in children	A inflammatory syndrome in children infected by the SARS-CoV-2 with similarities to Kawasaki disease. Clinical manifestations range from fever and inflammation to myocardial injury, shock, and development of coronary artery aneurysms.	DOID:0080711|NCIT:C172127	mondo.json	pediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2|PIMS-TS|PMIS|multisystem inflammatory syndrome in children|COVID-19 associated multisystem inflammatory syndrome in children|multisystem inflammatory syndrome in children associated with COVID-19|pediatric multi-system inflammatory syndrome potentially associated with COVID-19|PIMS|COVID-19 Kawasaki-like syndrome|pediatric inflammatory multisystem syndrome|pediatric multisystem inflammatory syndrome|multisystem inflammatory syndrome in children associated with coronavirus disease 2019|MIS-C|COVID-19 -related pediatric inflammatory multisystem syndrome|paediatric inflammatory multisystem syndrome: temporally associated with SARS-CoV-2|SARS-CoV-2 Kawasaki-like syndrome	http://purl.obolibrary.org/obo/MONDO_0100163	DOID:0080711|NCIT:C172127	
MONDO:0100164	biolink:Disease	permanent neonatal diabetes mellitus	Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.	MESH:C563425|GARD:0010457|Orphanet:99885|OMIMPS:606176|SCTID:609565001|NCIT:C114902|DOID:0060639|UMLS:C1833104	mondo.json	permanent diabetes mellitus of infancy|PDMI|diabetes mellitus, permanent neonatal, with neurologic features|PNDM|monogenic diabetes of infancy|diabetes mellitus, permanent, of infancy|developmental delay, epilepsy, and neonatal diabetes|diabetes mellitus, permanent neonatal	http://purl.obolibrary.org/obo/MONDO_0100164	https://omim.org/phenotypicSeries/PS606176|http://identifiers.org/snomedct/609565001|Orphanet:99885|http://identifiers.org/mesh/C563425|NCIT:C114902|DOID:0060639|UMLS:C1833104	gard_rare|ordo_disease
MONDO:0100165	biolink:Disease	permanent neonatal diabetes mellitus 1	A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well.	OMIM:606176	mondo.json	PDMI|PNDM1|diabetes mellitus, permanent neonatal 1|diabetes mellitus, permanent, of infancy	http://purl.obolibrary.org/obo/MONDO_0100165	https://omim.org/entry/606176	
GO:0008324	biolink:NamedThing	cation transmembrane transporter activity	Enables the transfer of cation from one side of a membrane to the other.		mondo.json	transmembrane cation transporter activity	http://purl.obolibrary.org/obo/GO_0008324		
GO:0035947	biolink:NamedThing	obsolete regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter	OBSOLETE. Any process that modulates the frequency, rate or extent of gluconeogenesis, by regulation of transcription from an RNA polymerase II promoter.		mondo.json	regulation of glucose biosynthesis by regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthetic process by regulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by regulation of transcription from Pol II promoter|regulation of glucose biosynthetic process by regulation of transcription from Pol II promoter|regulation of glucose biosynthesis by regulation of transcription from Pol II promoter	http://purl.obolibrary.org/obo/GO_0035947		
GO:0035948	biolink:NamedThing	obsolete positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter	OBSOLETE. Any process that activates or increases the frequency, rate or extent of gluconeogenesis by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter.		mondo.json	regulation of glucose biosynthesis by up-regulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by positive regulation of transcription from Pol II promoter|regulation of glucose biosynthetic process by up-regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthesis by up regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthetic process by up regulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by stimulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthesis by positive regulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by upregulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by activation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by up-regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthesis by positive regulation of transcription from Pol II promoter|regulation of glucose biosynthetic process by positive regulation of transcription from Pol II promoter|regulation of glucose biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by up regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthesis by upregulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthetic process by upregulation of transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0035948		
MONDO:0800130	biolink:Disease	autoinflammatory syndrome with immunodeficiency	An autoinflammatory syndrome characterized by onset of various autoimmune features usually in the first decades of life, although later onset has been reported. Typical features include autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. More variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus (SL). Some patients may have recurrent infections or exacerbation of the disease with acute infection. Laboratory studies show variable findings, often decreased numbers of naive B cells, lymphopenia with skewed subsets, hypogammaglobulinemia, presence of autoantibodies, and a hyperinflammatory state. The disorder shows autosomal dominant inheritance with incomplete penetrance.	OMIM:619375	mondo.json		http://purl.obolibrary.org/obo/MONDO_0800130	https://omim.org/entry/619375	
MONDO:0800131	biolink:Disease	hyper-IgE recurrent infection syndrome 4A, autosomal dominant	An immunologic disorder characterized by recurrent mainly sinopulmonary infections associated with increased serum IgE. The phenotype is variable, even within families. Some patients have onset of symptoms in early childhood and develop complications, including bronchiectasis or hemoptysis, whereas others have later onset of less severe infections. Immunologic workup usually shows normal leukocyte levels, although some patients may demonstrate alterations in lymphocyte subsets, including T cells. Affected individuals also have variable skeletal abnormalities, including high-arched palate, hyperextensible joints, scoliosis, and bone fractures. The IL6ST mutations are loss-of-function, although the truncated mutant proteins are expressed and interfere with the wildtype protein in a dominant-negative manner by disrupting IL6 and IL11 signaling.	OMIM:619752	mondo.json		http://purl.obolibrary.org/obo/MONDO_0800131	https://omim.org/entry/619752	
GO:0035949	biolink:NamedThing	obsolete positive regulation of gluconeogenesis by negative regulation of transcription from RNA polymerase II promoter	OBSOLETE. Any process that activates or increases the frequency, rate or extent of gluconeogenesis by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter.		mondo.json	positive regulation of glucose biosynthesis by down-regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthetic process by negative regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthetic process by down-regulation of transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis by negative regulation of transcription from Pol II promoter|positive regulation of glucose biosynthesis by down regulation of transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis by inhibition of transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis by downregulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthetic process by down regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthesis by negative regulation of transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis by down-regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthetic process by downregulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthesis by downregulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthetic process by negative regulation of transcription from Pol II promoter|positive regulation of glucose biosynthesis by negative regulation of transcription from Pol II promoter|positive regulation of gluconeogenesis by down regulation of transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0035949		
MONDO:0800134	biolink:Disease	primary immunodeficiency due to calcium channel deficiency	An immunodeficiency disease caused by a variation in the CRACR2A gene.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800134		
MONDO:0800135	biolink:Disease	congenital emphysematous lung disease due to Filamin A loss-of-function variant	Any interstitial lung disease specific to childhood caused by a loss-of-function variation in the FLNA gene. Female children are reported more often. Rare male patients with loss-of-function FLNA mutation-associated lung disease with residual protein function can survive into infancy with a severe form of the phenotype.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800135		
MONDO:0800132	biolink:Disease	autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency	An autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. Laboratory studies show increased levels of proinflammatory cytokines and increased expression of interferon-stimulated genes (ISGs), consistent with a type I interferonopathy.	OMIM:619858	mondo.json		http://purl.obolibrary.org/obo/MONDO_0800132	https://omim.org/entry/619858	
MONDO:0800133	biolink:Disease	pulmonary hypoplasia	A respiratory malformation characterized by the presence of both bronchi (albeit rudimentary) and alveoli in an under-developed lobe. Both the size and the weight of the lung are reduced. The true prevalence is not well known (1.4% of all births according to Knox et al. 13), but in cases of premature rupture of membranes at 15-28 weeks gestation, the reported prevalence of pulmonary hypoplasia ranges from 9 to 28%. Factors that contribute to pulmonary hypoplasia include adequate volume of the thoracic cavity, pulmonary fluid dynamics, and abnormal fetal breathing movements.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800133		
FOODON:03400685	biolink:NamedThing	022  tree nuts (tn) (ccpr)	Tree nuts are the seeds of a variety of trees and shrubs which are characterized by a hard inedible shell enclosing an oily seed. The seed is protected from pesticides applied during the growing season by the shell and other parts of the fruit. The edible portion of the nut is consumed in succulent, dried or processed forms.	http://www.langual.org/langual_thesaurus.asp?termid=A0685	mondo.json		http://purl.obolibrary.org/obo/FOODON_03400685		
MONDO:0800138	biolink:Disease	multisystem autoimmune disease due to IKAROS gain of function	An autoimmune disease caused by a loss-of-function variation in the IKZF1/IKAROSgene. Leukocytes of patients exhibited specific defects including impaired IL-2 production by T cells, T helper (TH) skewing toward TH2, low numbers of regulatory T cells (Treg), eosinophilia, and abnormal PC proliferation.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800138		
MONDO:0800139	biolink:Disease	HELIOS deficiency	A non-severe combined immunodeficiency caused by a loss-of-function variation in the IKZF2 gene that is characterized by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800139		
MONDO:0800136	biolink:Disease	non-severe combined immunodeficiency due to COPG1 deficiency	Any non-severe combined immunodeficiency caused by a deficiency in the COPG1 gene.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800136		
MONDO:0800137	biolink:Disease	early-onset pulmonary and cutaneous vasculitis	A monogenic autoinflammatory disorder caused by a de novo activating mutation, p.Tyr515∗, in hematopoietic cell kinase (HCK). The disease is characterized by cutaneous vasculitis and chronic pulmonary inflammation that progresses to fibrosis.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800137		
MONDO:0100172	biolink:Disease	intellectual disability, autosomal dominant		OMIMPS:156200	mondo.json	autosomal dominant intellectual disability|mental retardation, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0100172	https://omim.org/phenotypicSeries/PS156200	
MONDO:0100175	biolink:Disease	TTN-related myopathy	A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes.		mondo.json	TTN myopathy|congenital myopathy related to TTN	http://purl.obolibrary.org/obo/MONDO_0100175		
MONDO:0100176	biolink:Disease	AP-4 deficiency syndrome	A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures.		mondo.json	AP-4 deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0100176		
GO:0035933	biolink:NamedThing	glucocorticoid secretion	The regulated release of any glucocorticoid hormone into the circulatory system. Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood.		mondo.json		http://purl.obolibrary.org/obo/GO_0035933		
GO:0035935	biolink:NamedThing	androgen secretion	The regulated release of an androgen into the circulatory system. Androgens are steroid hormones that stimulate or control the development and maintenance of masculine characteristics in vertebrates.		mondo.json		http://purl.obolibrary.org/obo/GO_0035935		
GO:0035936	biolink:NamedThing	testosterone secretion	The regulated release of testosterone into the circulatory system. Testosterone is an androgen having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4-C-5.		mondo.json		http://purl.obolibrary.org/obo/GO_0035936		
MONDO:0800141	biolink:Disease	MAN2B2 deficiency	Any non-severe combined immunodeficiency in which the cause of the disease is variation in the MAN2B2 gene.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800141		
MONDO:0800142	biolink:Disease	chronic mucocutaneous candidiasis and connective tissue disease due to JNK1 haploinsufficiency	An immunodeficiency disease caused by a variation in MAPK8, the gene encoding c-Jun N-terminal kinase 1 (JNK1), that is characterized by chronic mucocutaneous candidiasis and a connective tissue disorder that clinically overlaps with Ehlers-Danlos syndrome (EDS).		mondo.json	JNK1 haploinsufficiency (causing combination of chronic mucocutaneous candidiasis and connective tissue disease)	http://purl.obolibrary.org/obo/MONDO_0800142		
MONDO:0800140	biolink:Disease	ITPKB deficiency	Any non-severe combined immunodeficiency in which the cause of the disease is variation in the ITPKB gene.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800140		
MONDO:0800145	biolink:Disease	non-severe combined immunodeficiency due to polymerase delta deficiency	Any non-severe combined immunodeficiency in which the cause of the disease is variation in the POLD1/POLD2 gene.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800145		
MONDO:0800146	biolink:Disease	agammaglobulinemia, autosomal recessive, due to BOB1 deficiency	Any agammaglobulinemia in which the cause of the disease is autosomal recessive deficiency in the BOB1 gene.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800146		
MONDO:0800143	biolink:Disease	cytomegalovirus pneumonia due to NOS2 deficiency	Cytomegalovirus pneumonia due to variant in the NOS2 gene.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800143		
MONDO:0800144	biolink:Disease	autoimmune pulmonary disease due to PD-1 deficiency	An autoimmune disease that is characterized by a lack of PD-1 on patient peripheral blood mononuclear cells (PBMCs) and reduced IFN production in response to mycobacterial stimuli.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800144		
MONDO:0800149	biolink:Disease	immunodeficiency, common variable, due to APRIL deficiency	Any commonn variable immunodeficiency in which the cause of the disease is an autosomal recessive variation in the TNFS13 gene.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800149		
GO:0035930	biolink:NamedThing	corticosteroid hormone secretion	The regulated release of any corticosteroid hormone into the circulatory system.		mondo.json	corticosteroid secretion	http://purl.obolibrary.org/obo/GO_0035930		
MONDO:0800147	biolink:Disease	hemophagocytic lymphohistiocytosis due to RhoG deficiency	Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is an autosomal recessive variation in the RHOG gene.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800147		
GO:0035931	biolink:NamedThing	mineralocorticoid secretion	The regulated release of any mineralocorticoid into the circulatory system. Mineralocorticoids are a class of steroid hormones that regulate water and electrolyte metabolism.		mondo.json		http://purl.obolibrary.org/obo/GO_0035931		
MONDO:0800148	biolink:Disease	autoinflammatory syndrome due to TBK1 deficiency	Any autoinflammatory syndrome in which the cause of the disease is an autosomal recessive variation in the TBK1 gene.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800148		
GO:0035932	biolink:NamedThing	aldosterone secretion	The regulated release of aldosterone into the circulatory system. Aldosterone is a pregnane-based steroid hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney.		mondo.json		http://purl.obolibrary.org/obo/GO_0035932		
MONDO:0100184	biolink:Disease	GTP cyclohydrolase I deficiency	A disease characterized by a deficiency in GTP cyclohydrolase I, which leads to a consequent reduction in BH4 and reduces the activity of three BH4-cofactor dependent enzymes - phenylalanine hydroxylase, tyrosine hydroxylase, and tryptophan hydroxylase. GTP cyclohydrolase I deficiency encompasses a spectrum of disease that includes autosomal dominant and autosomal recessive forms, with severity correlating with the residual enzyme activity. Individuals who are heterozygous for pathogenic variants in GCH1 have symptoms ranging from none (due to reduced penetrance) to dopa-responsive dystonia, which is the most common presentation in symptomatic cases, to rarer neurological presentations such as adult-onset "benign" parkinsonism, various types of focal dystonia, and symptoms simulating cerebral palsy or spastic paraplegia. Hyperphenylalaninemia is absent, and patients respond well to treatment with levodopa. Individuals who are homozygous or compound heterozygous for pathogenic variants in GCH1 typically present with hyperphenylalaninemia, often identified by newborn screening, and severe neurological features and due to very low or undetectable enzyme activity. Treatment with levodopa, BH4, and 5-hydroxytryptophan can improve the symptoms but does not prevent development of severe encephalopathy. Rare cases of GTP cyclohydrolase I deficiency with a phenotype that is intermediate in severity between dopa-responsive dystonia and the severe autosomal recessive form have also been described, supporting the existence a phenotypic spectrum of disease.		mondo.json	GTP cyclohydrolase I deficiency|GTP-cyclohydrolase I deficiency	http://purl.obolibrary.org/obo/MONDO_0100184		
MONDO:0100185	biolink:Disease	immune reconstitution inflammatory syndrome	An inflammatory condition that arises after initiating antiretroviral therapy (ART) therapy in HIV-infected patients that results from restored immunity to specific infectious or non-infectious antigens.	NCIT:C125712|MESH:D054019	mondo.json	immune reconstitution syndrome|IRD|immune reconstitution inflammatory syndrome associated with Kaposi sarcoma|IRS|immune restoration disease|IRIS	http://purl.obolibrary.org/obo/MONDO_0100185	http://identifiers.org/mesh/D054019	
MONDO:0100186	biolink:Disease	GTP cyclohydrolase I deficiency with hyperphenylalaninemia		GARD:0002844|Orphanet:2102|UMLS:C0268467|OMIM:233910|NCIT:C141442|SCTID:23447005	mondo.json	hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency|dystonia, Dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive|GTPCH deficiency|hyperphenylalaninemia due to GTP cyclohydrolase deficiency|HPABH4B|hyperphenylalaninemia, BH4-deficient, B|hyperphenylalaninemia, Bh4-deficient, type B|GTP cyclohydrolase I deficiency|GTP cyclohydrolase 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0100186	NCIT:C141442|UMLS:C0268467|https://omim.org/entry/233910|http://identifiers.org/snomedct/23447005|Orphanet:2102	gard_rare|ordo_clinical_subtype
MONDO:0100188	biolink:Disease	combined ApoA-I and ApoC-III deficiency	A hypoalphalipoproteinemia that is has its basis in the disruption of ApoA-I and ApoC-III.		mondo.json	ApoA-I and apoC-III deficiency, combined	http://purl.obolibrary.org/obo/MONDO_0100188		obsoletion_candidate
MONDO:0100189	biolink:Disease	apolipoprotein A-I deficiency	A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).	Orphanet:425	mondo.json	ApoA-I deficiency|familial apoA-I deficiency|familial hypoalphalipoproteinemia	http://purl.obolibrary.org/obo/MONDO_0100189	Orphanet:425	
GO:0008301	biolink:NamedThing	DNA binding, bending	The activity of binding selectively and non-covalently to and distorting the original structure of DNA, typically a straight helix, into a bend, or increasing the bend if the original structure was intrinsically bent due to its sequence.		mondo.json	DNA bending involving DNA binding|DNA bending activity	http://purl.obolibrary.org/obo/GO_0008301		
MONDO:0800152	biolink:Disease	disorder of galactose and fructose metabolism	An inherited disorder of carbohydrate metabolism that is has its basis in the disruption of galactose and/or fructose metabolic process.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800152		
MONDO:0800153	biolink:Disease	urea cycle disorder or inherited hyperammonemia	A disorder of amino acid metabolism that has its basis in the disruption of the urea cycle or an inherited hyperammonemia (any specific disease which causes an inherited increased concentration of ammonia in the blood).		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800153		
GO:0035929	biolink:NamedThing	steroid hormone secretion	The regulated release of any steroid that acts as a hormone into the circulatory system.		mondo.json		http://purl.obolibrary.org/obo/GO_0035929		
MONDO:0800156	biolink:Disease	inborn disorder of ornithine, proline and hydroxyproline metabolism	A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of ornithine, proline and/or hydroxyproline.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800156		
MONDO:0800157	biolink:Disease	inborn disorder of lysine, hydroxylysine, and tryptophan metabolism	A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of lysine, hydroxylysine, and/or tryptophan.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800157		
MONDO:0800154	biolink:Disease	inborn disorder of the metabolism of sulfur-containing amino acids and hydrogen sulfide	A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of sulfur-containing amino acids and/or hydrogen sulfide.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800154		
MONDO:0800155	biolink:Disease	inborn disorder of glycine and serine metabolism	A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glycine and/or serine.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800155		
MONDO:0800158	biolink:Disease	inborn disorder of glutamate/glutamine and aspartate/asparagine metabolism	A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glutamate/glutamine and aspartate/asparagine.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800158		
MONDO:0800159	biolink:Disease	disorder of polyamine metabolism	An inherited metabolic disease that has its basis in the disruption of the polyamine metabolic process.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800159		
MONDO:0100192	biolink:Disease	liver failure	A liver disease characterized by the liver losing or has lost all of its function.	NCIT:C26922|MESH:D017093	mondo.json	hepatic failure	http://purl.obolibrary.org/obo/MONDO_0100192	http://identifiers.org/mesh/D017093|NCIT:C26922	
MONDO:0100193	biolink:Disease	chronic liver failure	Liver failure that develops slowly and gradually for some time, possibly for years, often as the result of cirrhosis, or malnutrition.	NCIT:C84428	mondo.json	end-stage liver disease|end stage liver disease (decompensated liver disease)|end stage liver disease|ESLD	http://purl.obolibrary.org/obo/MONDO_0100193	NCIT:C84428	
MONDO:0100194	biolink:Disease	pregnancy associated osteoporosis	A severe early presentation of osteoporosis in which young women experience low trauma or spontaneous fractures, most commonly vertebral fractures, during late pregnancy or lactation.		mondo.json	pregnancy and lactation-associated osteoporosis	http://purl.obolibrary.org/obo/MONDO_0100194		
MONDO:0100195	biolink:Disease	X-linked intellectual disability with hypopituitarism	An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100195		
MONDO:0100196	biolink:Disease	TPM2-related myopathy	A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree.		mondo.json	autosomal dominant TPM2-related myopathy|TPM2 myopathy|congenital myopathy related to TPM2|TPM2-related myopathy	http://purl.obolibrary.org/obo/MONDO_0100196		
MONDO:0100197	biolink:Disease	parainfluenza infectious disease	A disease caused by infection with parainfluenza virus. There are four serotypes which cause respiratory illnesses in children and adults.	OMOP:4008269	mondo.json	parainfluenza infectious disorder|HPIV infectious disorder|parainfluenza (disorder)|human parainfluenza virus infectious disorder|human parainfluenza viruses infectious disorder	http://purl.obolibrary.org/obo/MONDO_0100197		
CHR:9606-chr16p11.2-p12.2	biolink:NamedThing	16p11.2-p12.2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr16p11.2-p12.2		
UBERON:0003528	biolink:AnatomicalEntity	brain gray matter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003528		
UBERON:0003529	biolink:AnatomicalEntity	respiratory system lymphatic vessel endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003529		
UBERON:0003526	biolink:AnatomicalEntity	respiratory system capillary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003526		
UBERON:0003527	biolink:AnatomicalEntity	kidney capillary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003527		
MONDO:0800174	biolink:Disease	encephalitis, acute, infection-induced, susceptibility to	An inherited susceptibility or predisposition to developing encephalitis, acute, infection-induced.	OMIMPS:610551	mondo.json		http://purl.obolibrary.org/obo/MONDO_0800174		
MONDO:0800175	biolink:Disease	cardiogenic shock	A rare, cardiac condition characterized by severely decreased cardiac output, hypoperfusion and end-organ dysfunction, in the presence of adequate intravascular volume. The clinical presentation is variable and may range from subtle hemodynamic alterations to overt cardiovascular collapse. Commonly reported features include dyspnea, crackles, elevated jugular venous pressure, altered mental state, abnormal pulse pressure, oliguria, cold extremities, and increased serum lactate levels.	UMLS:C0036980|MedDRA:10007625|ICD10CM:R57.0|Orphanet:97292	mondo.json		http://purl.obolibrary.org/obo/MONDO_0800175	Orphanet:97292|http://purl.bioontology.org/ontology/ICD10CM/R57.0|UMLS:C0036980	
FOODON:03400644	biolink:NamedThing	a.  primary food commodities of plant origin (ccpr)		http://www.langual.org/langual_thesaurus.asp?termid=A0644	mondo.json		http://purl.obolibrary.org/obo/FOODON_03400644		
MONDO:0800178	biolink:Disease	platinum-induced ototoxicity	Progressive, bilateral, and irreversible sensorineural hearing loss as a frequently encountered side effect of platinum-based chemotherapy such as cisplatin and carboplatin.		mondo.json	deafness, platinum-induced|platinum-related ototoxicity	http://purl.obolibrary.org/obo/MONDO_0800178		
MONDO:0800179	biolink:Disease	periprosthetic joint infection	A bacterial infection of the joint that is a complication occurring in 1% to 2% of primary arthroplasties.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800179		
FOODON:03400643	biolink:NamedThing	Codex Alimentarius classification of food and feed commodities	Codex Alimentarius, Volume 2 - 1993, Section 2:  Pesticide Residues in Food.  The Codex Classification of food and animal feed commodities moving in trade and the description of the various items and groups of food and animal feedstuffs included in the present document have been developed by the Codex Committee on Pesticide Residues. It was first adopted by the 18th Session of the Codex Alimentarius Commission, (1989).  The Codex Classification includes food commodities and animal feedstuffs for which Codex maximum residue limits will not necessarily be established. The Classification is intended to be as complete a listing of food commodities in trade as possible, classified into groups on the basis of the commodity's similar potential for pesticide residues.  The Classification may also be appropriate for other purposes such as setting maximum levels for other types of residues or for other contaminants in food. The Codex Classification should be consulted in order to obtain a precise description of the food or animal feed commodities and, especially, in cases where Codex maximum residue limits have been set for groups of food and groups of animal feedstuffs. The Codex Classification is intended to promote harmonization of the terms used to describe commodities which are subject to maximum residue limits and of the approach to grouping commodities with similar potential for residue for which a common group maximum residue limit can be set.	http://www.langual.org/langual_thesaurus.asp?termid=A0643	mondo.json		http://purl.obolibrary.org/obo/FOODON_03400643		
MONDO:0800176	biolink:Disease	black widow spider envenomation	Local and/or systemic toxicity resulting from a bite from a black widow spider (Latrodectus species).	SCTID:217666004	mondo.json	latrodectism|poisoning due to black widow spider|poisoning caused by black widow venom|black widow envenomation|toxic effect of venom of black widow	http://purl.obolibrary.org/obo/MONDO_0800176	http://identifiers.org/snomedct/217666004	
MONDO:0800177	biolink:Disease	frostbite	An injury to the skin and/or its underlying tissues that results from exposure of the affected area to extreme cold.	EFO:0009527|NCIT:C34627|SCTID:370977006	mondo.json		http://purl.obolibrary.org/obo/MONDO_0800177	NCIT:C34627|http://identifiers.org/snomedct/370977006	
CHEBI:58570	biolink:ChemicalSubstance	D-tyrosine zwitterion	A D-alpha-amino acid zwitterion that is D-tyrosine in which a proton has been transferred from the carboxy group to the amino group. It is the major species at pH 7.3.		mondo.json	D-tyrosine|(2R)-2-ammonio-3-(4-hydroxyphenyl)propanoate	http://purl.obolibrary.org/obo/CHEBI_58570		
UBERON:0003536	biolink:AnatomicalEntity	right lung alveolar duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003536		
UBERON:0003533	biolink:AnatomicalEntity	manual digit skin			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003533		
UBERON:0003534	biolink:AnatomicalEntity	tail skin			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003534		
UBERON:0003531	biolink:AnatomicalEntity	forelimb skin			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003531		
UBERON:0003532	biolink:AnatomicalEntity	hindlimb skin			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003532		
NCBITaxon:310911	biolink:OrganismalEntity	Amdoparvovirus		GC_ID:1	mondo.json	Amdovirus	http://purl.obolibrary.org/obo/NCBITaxon_310911		
UBERON:0003530	biolink:AnatomicalEntity	pedal digit skin			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003530		
MONDO:0006903	biolink:Disease	peroneal nerve paralysis	Paralysis of the nerves located in the legs.	MESH:D020427|EFO:1001102|SCTID:399088004|UMLS:C0270810|DOID:6925|MedDRA:10033828|NCIT:C27061	mondo.json	nerve palsy, peroneal|palsy, peroneal nerve|peroneal nerve palsy	http://purl.obolibrary.org/obo/MONDO_0006903	http://identifiers.org/snomedct/399088004|DOID:6925|UMLS:C0270810|NCIT:C27061	
MONDO:0006904	biolink:Disease	phimosis	A condition in which there is constriction in the tip of the foreskin resulting in inability to fully retract the foreskin over the glans penis. Causes include balanoposthitis, balanitis xerotica obliterans, and untreated diabetes.	NCIT:C26852|EFO:1001104|MedDRA:10034878|SCTID:449826002|ICD10CM:N47.1|MESH:D010688|DOID:2712	mondo.json	tight foreskin|tight frenulum	http://purl.obolibrary.org/obo/MONDO_0006904	NCIT:C26852|http://identifiers.org/snomedct/449826002|http://purl.bioontology.org/ontology/ICD10CM/N47.1|http://identifiers.org/mesh/D010688|DOID:2712	
MONDO:0006901	biolink:Disease	peritoneal neoplasm	A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma.	MedDRA:10061344|SCTID:126865007|EFO:1001100|MESH:D010534|NCIT:C3322	mondo.json	peritoneal neoplasm|peritoneum tumor|peritoneum neoplasm|tumor of peritoneum|peritoneum neoplasm (disease)|neoplasm of peritoneum	http://purl.obolibrary.org/obo/MONDO_0006901	NCIT:C3322|http://identifiers.org/mesh/D010534|http://identifiers.org/snomedct/126865007	
UBERON:0003519	biolink:AnatomicalEntity	thoracic cavity blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003519		
MONDO:0006902	biolink:Disease	obsolete periventricular leukomalacia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006902		
UBERON:0003517	biolink:AnatomicalEntity	kidney blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003517		
MONDO:0006900	biolink:Disease	perinephritis	Inflammation of the connective and adipose tissues surrounding the kidney.	DOID:2982|SCTID:111404004|MESH:D010501|EFO:1001099|MedDRA:10072058|UMLS:C0031065	mondo.json	perirenal fat inflammation|inflammation of perirenal fat	http://purl.obolibrary.org/obo/MONDO_0006900	http://identifiers.org/snomedct/111404004|UMLS:C0031065|http://identifiers.org/mesh/D010501|DOID:2982	
UBERON:0003518	biolink:AnatomicalEntity	main bronchus blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003518		
UBERON:0003515	biolink:AnatomicalEntity	forelimb blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003515		
UBERON:0003516	biolink:AnatomicalEntity	hindlimb blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003516		
MONDO:0800181	biolink:Disease	OPA1-related optic atrophy with or without extraocular features	Any primary mitochondrial disease in which the cause of the disease is monoallelic or biallelic variants in the OPA1 gene. While optic atrophy is present in most affected cases, OPA1 is a mitochondrial protein and thus features of this disease include abnormal mitochondrial morphology and multiple mitochondrial DNA deletions, and can affect other organ systems and. Extraocular features can include progressive sensorineural hearing impairment, cognitive impairment, peripheral neuropathy, myopathy, ragged-red muscle fibers, and exercise-induced lactic acidemia, while additional ocular features can include progressive visual loss, central scotoma, and color vision abnormalities.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800181		
MONDO:0800182	biolink:Disease	TEK-related primary glaucoma	Any primary hereditary glaucoma in which the cause of the disease is a mutation in the TEK gene.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800182		
MONDO:0800180	biolink:Disease	CPOX-related hereditary coproporphyria	Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the CPOX gene.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800180		
GO:0045321	biolink:NamedThing	leukocyte activation	A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor.		mondo.json	immune cell activation|leucocyte activation	http://purl.obolibrary.org/obo/GO_0045321		
MONDO:0800183	biolink:Disease	PAX6-related ocular dysgenesis	Any eye disorder in which the cause of the disease is a mutation in the PAX6 gene.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800183		
MONDO:0800187	biolink:Disease	immunodeficiency 83, susceptibility to viral infections	An inherited susceptibility or predisposition to developing viral infections.	OMIM:613002	mondo.json	IMD83	http://purl.obolibrary.org/obo/MONDO_0800187	https://omim.org/entry/613002	
MONDO:0800188	biolink:Disease	malignant hyperthermia, susceptibility to	An inherited susceptibility or predisposition to developing malignant hyperthermia.	OMIMPS:145600	mondo.json		http://purl.obolibrary.org/obo/MONDO_0800188	https://omim.org/phenotypicSeries/PS145600	
FOODON:03400652	biolink:NamedThing	04  nuts and seeds (ccpr)	TYPE 04  -  NUTS AND SEEDS  Nuts and seeds are derived from a large variety of trees, shrubs and herbaceous plants, mostly cultivated.  The mature seeds or nuts are used as human food, for the production of beverages or edible vegetable oils and for the production of seed meals and cakes for animal feed.	http://www.langual.org/langual_thesaurus.asp?termid=A0652	mondo.json		http://purl.obolibrary.org/obo/FOODON_03400652		
UBERON:0003524	biolink:AnatomicalEntity	tail blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003524		
UBERON:0003522	biolink:AnatomicalEntity	manual digit blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003522		
UBERON:0003523	biolink:AnatomicalEntity	manus blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003523		
UBERON:0003520	biolink:AnatomicalEntity	pelvis blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003520		
UBERON:0003521	biolink:AnatomicalEntity	pes blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003521		
UBERON:0003508	biolink:AnatomicalEntity	pedal digit blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003508		
UBERON:0003509	biolink:AnatomicalEntity	arterial blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003509		
UBERON:0003506	biolink:AnatomicalEntity	chest blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003506		
UBERON:0003507	biolink:AnatomicalEntity	arm blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003507		
UBERON:0003504	biolink:AnatomicalEntity	respiratory system blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003504		
UBERON:0003505	biolink:AnatomicalEntity	trachea blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003505		
UBERON:2001431	biolink:AnatomicalEntity	primitive olfactory epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_2001431		
GO:0045333	biolink:NamedThing	cellular respiration	The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which either requires oxygen (aerobic respiration) or does not (anaerobic respiration).		mondo.json	oxidative metabolic process|respiration|oxidative metabolism	http://purl.obolibrary.org/obo/GO_0045333		
GO:0060973	biolink:NamedThing	cell migration involved in heart development	The orderly movement of a cell from one site to another that will contribute to the progression of the heart over time, from its initial formation, to the mature organ.		mondo.json		http://purl.obolibrary.org/obo/GO_0060973		
UBERON:0003513	biolink:AnatomicalEntity	trunk blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003513		
UBERON:0003514	biolink:AnatomicalEntity	limb blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003514		
UBERON:0003511	biolink:AnatomicalEntity	iris blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003511		
UBERON:0003512	biolink:AnatomicalEntity	lung blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003512		
UBERON:0003510	biolink:AnatomicalEntity	eyelid blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003510		
OBO:mondo#DEPRECATED	biolink:NamedThing	A synonym that is historic and discouraged			mondo.json		http://purl.obolibrary.org/obo/mondo#DEPRECATED		
UBERON:0003502	biolink:AnatomicalEntity	neck blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003502		
UBERON:0003503	biolink:AnatomicalEntity	leg blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003503		
UBERON:0003500	biolink:AnatomicalEntity	corneal blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003500		
UBERON:0003501	biolink:AnatomicalEntity	retina blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003501		
MONDO:0041261	biolink:Disease	disorder of acid-base balance		SCTID:26436007|UMLS:C0268029	mondo.json	disorder of acid-base balance|disturbance of acid-base balance	http://purl.obolibrary.org/obo/MONDO_0041261	UMLS:C0268029|http://identifiers.org/snomedct/26436007	
OBO:ECTO_9001811	biolink:NamedThing	exposure to protic solvent	An exposure to protic solvent.		mondo.json	exposure to protic solvent	http://purl.obolibrary.org/obo/ECTO_9001811		
OBO:ECTO_9001813	biolink:NamedThing	exposure to amphiprotic solvent	An exposure to amphiprotic solvent.		mondo.json	exposure to amphiprotic solvent	http://purl.obolibrary.org/obo/ECTO_9001813		
MONDO:0041259	biolink:Disease	diphtheritic myocarditis	An myocarditis caused by infection with Corynebacterium diphtheriae.	SCTID:26117009|UMLS:C0152952	mondo.json	Corynebacterium diphtheriae myocarditis|diphtheritic myocarditis|Corynebacterium diphtheriae caused myocarditis	http://purl.obolibrary.org/obo/MONDO_0041259	http://identifiers.org/snomedct/26117009|UMLS:C0152952	
GO:0033365	biolink:NamedThing	protein localization to organelle	A process in which a protein is transported to, or maintained in, a location within an organelle.		mondo.json	protein localization in organelle|protein localisation to organelle	http://purl.obolibrary.org/obo/GO_0033365		
GO:0033363	biolink:NamedThing	secretory granule organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a secretory granule. A secretory granule is a small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion.		mondo.json	secretory granule organisation|secretory granule organization and biogenesis	http://purl.obolibrary.org/obo/GO_0033363		
MONDO:0016290	biolink:Disease	Hernández-Aguirre Negrete syndrome	A syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait.	GARD:0003491|Orphanet:2139|SCTID:721146009|MESH:C538112	mondo.json	Ehlers-Danlos syndrome with progeroid facies and mild intellectual disability|intellectual disability-epilepsy-bulbous nose syndrome|Ehlers-Danlos syndrome with progeroid facies and mild mental retardation	http://purl.obolibrary.org/obo/MONDO_0016290	http://identifiers.org/mesh/C538112|Orphanet:2139|http://identifiers.org/snomedct/721146009	ordo_malformation_syndrome
MONDO:0016291	biolink:Disease	craniosynostosis, Herrmann-Opitz type	Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.	Orphanet:2145|UMLS:CN226893|GARD:0002671	mondo.json	Herrmann Opitz craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0016291	Orphanet:2145|UMLS:CN226893	gard_rare|ordo_malformation_syndrome
MONDO:0016292	biolink:Disease	nodular neuronal heterotopia		SCTID:253151003|Orphanet:2149|GARD:0002661	mondo.json	genetic nodular heterotopia|hereditary nodular heterotopia|nodular heterotopia	http://purl.obolibrary.org/obo/MONDO_0016292	Orphanet:2149|http://identifiers.org/snomedct/253151003	ordo_morphological_anomaly
MONDO:0016293	biolink:Disease	congenital stationary night blindness		Orphanet:215|DOID:0050534|ICD9:368.61|SCTID:232061009|OMIMPS:310500|MESH:C536122|SCTID:193687000	mondo.json	night blindness, congenital stationary|congenital essential nyctalopia	http://purl.obolibrary.org/obo/MONDO_0016293	https://omim.org/phenotypicSeries/PS310500|Orphanet:215|http://identifiers.org/mesh/C536122|DOID:0050534|http://identifiers.org/snomedct/232061009	ordo_disease
OBO:ECTO_9001822	biolink:NamedThing	exposure to antagonist	An exposure to antagonist.		mondo.json	exposure to antagonist	http://purl.obolibrary.org/obo/ECTO_9001822		
MONDO:0016298	biolink:Disease	postlingual non-syndromic genetic hearing loss	Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed.	SCTID:764097002|Orphanet:216452	mondo.json	postlingual non-syndromic genetic deafness|isolated postlingual genetic deafness	http://purl.obolibrary.org/obo/MONDO_0016298	http://identifiers.org/snomedct/764097002|Orphanet:216452	ordo_disease
MONDO:0016299	biolink:Disease	holoprosencephaly-caudal dysgenesis syndrome	A central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).	ICD10CM:Q04.2|Orphanet:2165|UMLS:CN201097	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016299	Orphanet:2165|UMLS:CN201097	ordo_malformation_syndrome
MONDO:0016294	biolink:Disease	Hirschsprung disease-type D brachydactyly syndrome	Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.	Orphanet:2150|MESH:C538319|GARD:0002700|OMIM:306980|UMLS:C1844017	mondo.json	Hirschsprung disease with type D brachydactyly|Hirschsprung disease with type d brachydactyly|Hirschsprung disease type d brachydactyly|familial Hirschsprung's disease and type D brachydactyly	http://purl.obolibrary.org/obo/MONDO_0016294	Orphanet:2150|http://identifiers.org/mesh/C538319|UMLS:C1844017|https://omim.org/entry/306980	ordo_malformation_syndrome
MONDO:0016295	biolink:Disease	neuronal ceroid lipofuscinosis	A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.	UMLS:C0027877|OMIMPS:256730|Orphanet:216|ICD10CM:E75.4|NCIT:C61257|DOID:14503|SCTID:42012007|GARD:0010739	mondo.json	NCL|ceroid lipofuscinoses|neuronal ceroid lipofuscinosis|hereditary ceroid lipofuscinosis	http://purl.obolibrary.org/obo/MONDO_0016295	https://omim.org/phenotypicSeries/PS256730|UMLS:C0027877|Orphanet:216|http://purl.bioontology.org/ontology/ICD10CM/E75.4|DOID:14503|NCIT:C61257|http://identifiers.org/snomedct/42012007	ordo_group_of_disorders|disease_grouping
MONDO:0016296	biolink:Disease	holoprosencephaly	Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.	MedDRA:10056304|ICD10CM:Q04.2|NCIT:C74988|DOID:4621|OMIMPS:236100|MESH:D016142|UMLS:C0079541|Orphanet:2162|GARD:0006665|SCTID:30915001	mondo.json	HPE|holoprosencephaly sequence	http://purl.obolibrary.org/obo/MONDO_0016296	Orphanet:2162|UMLS:C0079541|http://identifiers.org/snomedct/30915001|https://omim.org/phenotypicSeries/PS236100|DOID:4621|NCIT:C74988|http://purl.bioontology.org/ontology/ICD10CM/Q04.2|http://identifiers.org/mesh/D016142	gard_rare|ordo_malformation_syndrome
MONDO:0016297	biolink:Disease	prelingual non-syndromic genetic hearing loss	A rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition.	SCTID:764098007|Orphanet:216445	mondo.json	prelingual non-syndromic genetic deafness|isolated prelingual genetic deafness	http://purl.obolibrary.org/obo/MONDO_0016297	Orphanet:216445|http://identifiers.org/snomedct/764098007	ordo_disease
MONDO:0016280	biolink:Disease	sarcoma of cervix uteri	A sarcoma involving a uterine cervix.	UMLS:CN201070|ICD10CM:C53.0|Orphanet:213797	mondo.json	sarcoma of uterine cervix|malignant mesenchymal tumor of cervix uteri|cervical malignant mesenchymal tumor|cervical sarcoma|uterine cervix sarcoma	http://purl.obolibrary.org/obo/MONDO_0016280	UMLS:CN201070|Orphanet:213797	ordo_group_of_disorders|disease_grouping
MONDO:0016281	biolink:Disease	46,XX ovotesticular disorder of sex development	46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.	OMIM:400045|UMLS:C2748895|SCTID:18978002|Orphanet:2138|UMLS:CN776920|NCIT:C127167|MESH:D050090	mondo.json	ovotesticular disorders of sex development|46,XX ovotesticular DSD|true hermaphroditism|ovotesticular differences of sex development|ovotesticular DSD	http://purl.obolibrary.org/obo/MONDO_0016281	Orphanet:2138|NCIT:C127167|UMLS:C2748895|http://identifiers.org/mesh/D050090|UMLS:CN776920|http://identifiers.org/snomedct/18978002	ordo_malformation_syndrome
OBO:ECTO_0001659	biolink:NamedThing	exposure to chloroacetic acid	An exposure to chloroacetic acid.		mondo.json	exposure to chloroacetic acid	http://purl.obolibrary.org/obo/ECTO_0001659		
MONDO:0016282	biolink:Disease	rhabdomyosarcoma of the cervix uteri	A rare malignant neoplasm with skeletal muscle differentiation arising from the cervix.	UMLS:CN201072|UMLS:C4289809|Orphanet:213802|NCIT:C128048|ONCOTREE:CERMS|ICD10CM:C53.0|SCTID:763408003	mondo.json	rhabdomyosarcoma (disease) of uterine cervix|uterine cervix rhabdomyosarcoma|cervical rhabdomyosarcoma|CERMS|uterine cervix rhabdomyosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0016282	UMLS:C4289809|UMLS:CN201072|NCIT:C128048|Orphanet:213802|http://identifiers.org/snomedct/763408003	ordo_disease
MONDO:0100100	biolink:Disease	SELENON-related myopathy	Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present.		mondo.json	SEPN1-related myopathy|SELENON-related myopathy	http://purl.obolibrary.org/obo/MONDO_0100100		
MONDO:0004298	biolink:Disease	stomach disorder	A disease involving the stomach.	UMLS:C0038354|ICD9:537.89|NCIT:C26886|SCTID:29384001|ICD9:537.9|MESH:D013272|DOID:76	mondo.json	gastropathy|gastric disease|stomach disease|disease or disorder of stomach|disease of stomach|stomach disease or disorder|stomach disorder|disorder of stomach	http://purl.obolibrary.org/obo/MONDO_0004298	NCIT:C26886|DOID:76|UMLS:C0038354|http://identifiers.org/mesh/D013272|http://identifiers.org/snomedct/29384001	
NCIT:C45980	biolink:NamedThing	Absence of a Hormonal Syndrome			mondo.json		http://purl.obolibrary.org/obo/NCIT_C45980		
MONDO:0100101	biolink:Disease	fetal akinesia deformation sequence 1	Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene.	DOID:0111377|OMIM:208150|Orphanet:994	mondo.json	FADS1|Pena-Shokeir syndrome type 1|Pena-Shokeir syndrome, type 1	http://purl.obolibrary.org/obo/MONDO_0100101	DOID:0111377|Orphanet:994|https://omim.org/entry/208150	
NCIT:C45981	biolink:NamedThing	Presence of a Hormonal Syndrome			mondo.json		http://purl.obolibrary.org/obo/NCIT_C45981		
MONDO:0004297	biolink:Disease	lymphoepithelioma-like thymic carcinoma	A rare, usually aggressive primary thymic carcinoma, characterized by a syncytial growth of undifferentiated carcinoma cells and the presence of a lymphoplasmacytic infiltrate. More than 40% of cases are associated with Epstein-Barr virus infection.	UMLS:C0279706|NCIT:C7998|DOID:7599	mondo.json	lymphoepithelioma-like carcinoma of the Thymus|malignant lymphoepithelial thymoma|lymphoepithelioma-like Thymus carcinoma|lymphoepithelial cancer of Thymus|lymphoepithelial cancer of the Thymus|lymphoepithelial Thymus cancer|lymphoepithelioma-like thymic carcinoma|lymphoepithelioma-like carcinoma of Thymus|thymic lymphoepithelioma-like carcinoma	http://purl.obolibrary.org/obo/MONDO_0004297	DOID:7599|UMLS:C0279706|NCIT:C7998	
MONDO:0100102	biolink:Disease	fetal akinesia deformation sequence 2	Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the RAPSN gene.	DOID:0111378|OMIM:618388	mondo.json	FADS2	http://purl.obolibrary.org/obo/MONDO_0100102	DOID:0111378|https://omim.org/entry/618388	
MONDO:0100103	biolink:Disease	fetal akinesia deformation sequence 3	Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene.	OMIM:618389|DOID:0111376	mondo.json	FADS3	http://purl.obolibrary.org/obo/MONDO_0100103	DOID:0111376|https://omim.org/entry/618389	
MONDO:0004299	biolink:Disease	infiltrating bladder lymphoepithelioma-like carcinoma		EFO:1000302|NCIT:C39821|UMLS:C1512736|DOID:7600	mondo.json	infiltrating bladder lymphoepithelioma-like carcinoma	http://purl.obolibrary.org/obo/MONDO_0004299	NCIT:C39821|DOID:7600|UMLS:C1512736	
MONDO:0004294	biolink:Disease	gestational ovarian choriocarcinoma	A rare malignant trophoblastic tumor that arises from the ovary as a result of ectopic ovarian pregnancy. There is no germ cell component present.	NCIT:C40442|DOID:7591|UMLS:C1517538	mondo.json	gestational ovarian choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004294	UMLS:C1517538|DOID:7591|NCIT:C40442	
MONDO:0100104	biolink:Disease	fetal akinesia deformation sequence 4	Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the NUP88 gene.	DOID:0111379|OMIM:618393	mondo.json	FADS4	http://purl.obolibrary.org/obo/MONDO_0100104	DOID:0111379|https://omim.org/entry/618393	
MONDO:0004293	biolink:Disease	supraglottis squamous cell carcinoma	A squamous cell carcinoma of the larynx that arises from the supraglottic area. Signs and symptoms include dysphagia, a sensation of foreign body in the throat, and hemoptysis. It spreads to the space anterior to the epiglottis, pyriform sinus, and base of the tongue.	DOID:7587|UMLS:C0749163|NCIT:C4945	mondo.json	squamous cell carcinoma of the supraglottis|supraglottic part of larynx squamous cell carcinoma|epidermoid carcinoma of supraglottis|supraglottic squamous cell carcinoma|supraglottis squamous cell carcinoma|epidermoid carcinoma of the supraglottis|supraglottis epidermoid carcinoma|supraglottic epidermoid carcinoma|squamous cell carcinoma of supraglottis	http://purl.obolibrary.org/obo/MONDO_0004293	NCIT:C4945|DOID:7587|UMLS:C0749163	
MONDO:0041284	biolink:Disease	primary motor cortex epilepsy	A epilepsy that involves the primary motor cortex.	UMLS:C0234978|SCTID:267592003	mondo.json	primary motor cortex epilepsy|Jacksonian epilepsy|epilepsy of primary motor cortex|motor cortex epilepsy	http://purl.obolibrary.org/obo/MONDO_0041284	UMLS:C0234978|http://identifiers.org/snomedct/267592003	
MONDO:0100105	biolink:Disease	brain small vessel disease 3	An autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration.	OMIM:618360	mondo.json	BSVD3	http://purl.obolibrary.org/obo/MONDO_0100105	https://omim.org/entry/618360	
MONDO:0004296	biolink:Disease	cervical lymphoepithelioma-like carcinoma	A variant of cervical squamous cell carcinoma characterized by the presence of islands of cells with uniform, vesicular nuclei and prominent nucleoli and a dense lymphocytic infiltrate.	NCIT:C40193|UMLS:C1516418|DOID:7598	mondo.json	cervical lymphoepithelioma-like carcinoma	http://purl.obolibrary.org/obo/MONDO_0004296	UMLS:C1516418|NCIT:C40193|DOID:7598	
MONDO:0100106	biolink:Disease	obsolete neonatal epileptic encephalopathy	OBSOLETE. A form of age-related epileptic encephalopathy, characterized by the onset of seizures within the first 4 weeks of life that can be generalized or lateralized, independent of the sleep cycle, and that can result in frequent seizures per day, leading to psychomotor impairment and death.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100106		
MONDO:0004295	biolink:Disease	asbestos-related lung carcinoma	A carcinoma arising in the lung due to exposure to asbestos.	DOID:7596|NCIT:C27925|UMLS:C1332337	mondo.json	asbestos-related lung carcinoma|asbestos-related lung cancer	http://purl.obolibrary.org/obo/MONDO_0004295	NCIT:C27925|DOID:7596|UMLS:C1332337	
MONDO:0100107	biolink:Disease	non-neonatal early infantile epileptic encephalopathy	Non-neonatal early-onset epileptic encephalopathy is a form an of age-related epileptic encephalopathies, characterized by the onset of seizures later than the first 4 weeks of life but within the first three months. Seizures can be generalized or lateralized, independent of the sleep cycle and can occur multiple times per day, leading to psychomotor impairment and death.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100107		
MONDO:0004290	biolink:Disease	subglottis verrucous carcinoma	An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the subglottic area of the larynx.	UMLS:C0280330|NCIT:C8190|DOID:7584	mondo.json	subglottis verrucous carcinoma|subglottic verrucous carcinoma|verrucous carcinoma of subglottis|verrucous carcinoma of the subglottis	http://purl.obolibrary.org/obo/MONDO_0004290	DOID:7584|NCIT:C8190|UMLS:C0280330	
MONDO:0004292	biolink:Disease	supraglottis verrucous carcinoma	An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the supraglottic area of the larynx.	UMLS:C0280331|NCIT:C8191|DOID:7586	mondo.json	verrucous carcinoma of supraglottis|verrucous carcinoma of the supraglottis|supraglottic verrucous carcinoma|supraglottis verrucous carcinoma|supraglottic part of larynx verrucous carcinoma	http://purl.obolibrary.org/obo/MONDO_0004292	DOID:7586|NCIT:C8191|UMLS:C0280331	
MONDO:0004291	biolink:Disease	subglottis squamous cell carcinoma	A squamous cell carcinoma of the larynx that arises from the subglottic area. Symptoms include dyspnea and stridor. It spreads to the hypopharynx, trachea, and thyroid gland.	UMLS:C0280326|NCIT:C8187|DOID:7585	mondo.json	epidermoid carcinoma of the subglottis|squamous cell carcinoma of subglottis|subglottis squamous cell carcinoma|squamous cell carcinoma of the subglottis|epidermoid carcinoma of subglottis|subglottic epidermoid carcinoma|subglottic squamous cell carcinoma|subglottis epidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0004291	DOID:7585|NCIT:C8187|UMLS:C0280326	
MONDO:0016287	biolink:Disease	adenoid basal carcinoma of the cervix uteri	A skin adenoid basal cell carcinoma that involves the uterine cervix.	Orphanet:213828|ICD10CM:C53.0|UMLS:CN201077	mondo.json	skin adenoid basal cell carcinoma of uterine cervix|cervical adenoid basal carcinoma|uterine cervix skin adenoid basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0016287	UMLS:CN201077|Orphanet:213828	ordo_disease
MONDO:0016288	biolink:Disease	obsolete glassy cell carcinoma of the cervix uteri			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016288		
MONDO:0016289	biolink:Disease	malignant germ cell tumor of cervix uteri	A malignant germ cell tumor that involves the uterine cervix.	Orphanet:213837|ICD10CM:C53.0|UMLS:CN201079	mondo.json	germ cell cancer of cervix uteri|cervical malignant germ cell tumor|germ cell cancer of the cervix uteri|malignant germ cell tumor of the cervix uteri|cervical germ cell cancer|uterine cervix malignant germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0016289	UMLS:CN201079|Orphanet:213837	ordo_disease
MONDO:0016283	biolink:Disease	leiomyosarcoma of the cervix uteri	Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver.	Orphanet:213807|ICD10CM:C53.0|UMLS:C4289817|NCIT:C128047|SCTID:763771009|ONCOTREE:CELI|UMLS:CN201073	mondo.json	cervical leiomyosarcoma|CELI|uterine cervix leiomyosarcoma|leiomyosarcoma of uterine cervix	http://purl.obolibrary.org/obo/MONDO_0016283	UMLS:C4289817|UMLS:CN201073|NCIT:C128047|Orphanet:213807|http://identifiers.org/snomedct/763771009	ordo_disease
GO:0033343	biolink:NamedThing	positive regulation of collagen binding	Any process that activates or increases the frequency, rate or extent of collagen binding.		mondo.json	activation of collagen binding|upregulation of collagen binding|up regulation of collagen binding|stimulation of collagen binding|up-regulation of collagen binding	http://purl.obolibrary.org/obo/GO_0033343		
MONDO:0016284	biolink:Disease	primitive neuroectodermal tumor of the cervix uteri	Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement.	Orphanet:213812|UMLS:CN201074|ICD10CM:C53.0	mondo.json	cervical malignant peripheral neuroectodermal tumor|peripheral neuroectodermal cancer of cervix uteri|cervical peripheral neuroectodermal cancer|malignant peripheral neuroectodermal tumor of the cervix uteri	http://purl.obolibrary.org/obo/MONDO_0016284	UMLS:CN201074|Orphanet:213812	ordo_disease
GO:0033342	biolink:NamedThing	negative regulation of collagen binding	Any process that stops, prevents, or reduces the frequency, rate or extent of collagen binding.		mondo.json	down regulation of collagen binding|inhibition of collagen binding|down-regulation of collagen binding|downregulation of collagen binding	http://purl.obolibrary.org/obo/GO_0033342		
MONDO:0016285	biolink:Disease	papillary carcinoma of the cervix uteri	A papillary carcinoma that involves the uterine cervix.	Orphanet:213817|ICD10CM:C53.0|UMLS:CN201075	mondo.json	uterine cervix papillary carcinoma|cervical papillary carcinoma	http://purl.obolibrary.org/obo/MONDO_0016285	UMLS:CN201075|Orphanet:213817	ordo_disease
GO:0033341	biolink:NamedThing	regulation of collagen binding	Any process that modulates the frequency, rate or extent of collagen binding.		mondo.json		http://purl.obolibrary.org/obo/GO_0033341		
MONDO:0016286	biolink:Disease	obsolete adenoid cystic carcinoma of the cervix uteri			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016286		
MONDO:0016270	biolink:Disease	low-grade neuroendocrine tumor of the corpus uteri	Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop.	Orphanet:213736|UMLS:CN201059	mondo.json	well-differentiated neuroendocrine tumor of the endometrium|low-grade neuroendocrine tumor of the uterine corpus|well-differentiated neuroendocrine tumor of the corpus uteri|well-differentiated neuroendocrine neoplasm of the endometrium	http://purl.obolibrary.org/obo/MONDO_0016270	UMLS:CN201059|Orphanet:213736	ordo_disease
MONDO:0016271	biolink:Disease	adenoid cystic carcinoma of the corpus uteri	A adenoid cystic carcinoma that involves the body of uterus.	Orphanet:213741	mondo.json	endometrial adenoid cystic carcinoma|body of uterus adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0016271	Orphanet:213741	ordo_disease
MONDO:0100110	biolink:Disease	adenovirus renal infection			mondo.json		http://purl.obolibrary.org/obo/MONDO_0100110		
MONDO:0100111	biolink:Disease	focal segmental glomerulosclerosis and neurodevelopmental syndrome	A Mendelian diseases characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed.	OMIM:619428	mondo.json	FSGSNEDS	http://purl.obolibrary.org/obo/MONDO_0100111	https://omim.org/entry/619428	
MONDO:0100112	biolink:Disease	acyl-CoA binding domain containing protein 5 deficiency	A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay.		mondo.json	ACBD5 deficiency|acyl-CoA binding domain containing protein 5 deficiency	http://purl.obolibrary.org/obo/MONDO_0100112		
OBO:ECTO_9001809	biolink:NamedThing	exposure to polar solvent	An exposure to polar solvent.		mondo.json	exposure to polar solvent	http://purl.obolibrary.org/obo/ECTO_9001809		
MONDO:0100113	biolink:Disease	hearing loss with skin disease	Nonsyndromic deafness, keratitis-ichthyosis-deafness syndrome, and palmoplantar keratoderma with deafness have all been associated with autosomal dominant variants in GJB2. Reported cases share hearing loss as a feature, therefore it is likely that these phenotypes exist along a spectrum of the same disease, differing in severity of skin phenotypes.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100113		
MONDO:0100114	biolink:Disease	dry age related macular degeneration	Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy.	MedDRA:10075567	mondo.json	dry AMD|dry ARMD	http://purl.obolibrary.org/obo/MONDO_0100114	http://identifiers.org/meddra/10075567	
MONDO:0100115	biolink:Disease	acute flaccid myelitis	An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause.	MESH:C000629404|NCIT:C128379	mondo.json	AFM	http://purl.obolibrary.org/obo/MONDO_0100115	NCIT:C128379|http://identifiers.org/mesh/C000629404	
MONDO:0100116	biolink:Disease	Middle East respiratory syndrome	A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome.	UMLS:C3694279|Orphanet:576074|NCIT:C128424|DOID:0080642	mondo.json	MERS|camel flu	http://purl.obolibrary.org/obo/MONDO_0100116	NCIT:C128424|Orphanet:576074|UMLS:C3694279|DOID:0080642	ordo_disease
MONDO:0041295	biolink:Disease	acute papillary necrosis	Acute form of kidney papillary necrosis.	SCTID:270494003	mondo.json	kidney papillary necrosis, acute|acute renal medullary necrosis|acute papillary necrosis|acute necrotizing papillitis|acute kidney papillary necrosis	http://purl.obolibrary.org/obo/MONDO_0041295	http://identifiers.org/snomedct/270494003	
GO:0008395	biolink:NamedThing	steroid hydroxylase activity	Catalysis of the formation of a hydroxyl group on a steroid by incorporation of oxygen from O2.		mondo.json	cytochrome P450 CYP2G1|olfactory-specific steroid hydroxylase activity	http://purl.obolibrary.org/obo/GO_0008395		
MONDO:0100108	biolink:Disease	TPM3-related myopathy	TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation.		mondo.json	TPM3-related myopathy|TPM3 myopathy|congenital myopathy related to TPM3|autosomal dominant TPM3-related myopathy	http://purl.obolibrary.org/obo/MONDO_0100108		
MONDO:0100109	biolink:Disease	Zinner syndrome	A rare condition comprising a triad of unilateral renal agenesis, ipsilateral seminal vesicle obstruction and ipsilateral ejaculatory duct obstruction.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100109		
OBO:ECTO_9001804	biolink:NamedThing	exposure to protein synthesis inhibitor	An exposure to protein synthesis inhibitor.		mondo.json	exposure to protein synthesis inhibitor	http://purl.obolibrary.org/obo/ECTO_9001804		
MONDO:0016276	biolink:Disease	high-grade neuroendocrine carcinoma of the cervix uteri	High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent.	ICD10CM:C53.0|Orphanet:213777|UMLS:CN201066	mondo.json	high-grade neuroendocrine carcinoma of the uterine cervix|poorly differentiated neuroendocrine cervical carcinoma|poorly differentiated neuroendocrine carcinoma of the cervix uteri	http://purl.obolibrary.org/obo/MONDO_0016276	UMLS:CN201066|Orphanet:213777	ordo_disease
MONDO:0016277	biolink:Disease	malignant mixed epithelial and mesenchymal tumor of cervix uteri		ICD10CM:C53.0|Orphanet:213782|UMLS:CN201067	mondo.json	cervical malignant mixed epithelial and mesenchymal tumor|mixed epithelial and mesenchymal cancer of cervix uteri	http://purl.obolibrary.org/obo/MONDO_0016277	UMLS:CN201067|Orphanet:213782	ordo_group_of_disorders|disease_grouping
MONDO:0016278	biolink:Disease	obsolete carcinosarcoma of the cervix uteri	OBSOLETE. Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0016278		
MONDO:0016279	biolink:Disease	obsolete adenosarcoma of the cervix uteri	OBSOLETE. Adenosarcoma of the cervix uteri is a rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0016279		
MONDO:0016272	biolink:Disease	transitional cell carcinoma of the corpus uteri	A transitional cell carcinoma that involves the body of uterus.	Orphanet:213746	mondo.json	body of uterus transitional cell carcinoma|endometrial transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0016272	Orphanet:213746	ordo_disease
MONDO:0016273	biolink:Disease	malignant germ cell tumor of corpus uteri	A malignant germ cell tumor that involves the body of uterus.	UMLS:CN201062|Orphanet:213751	mondo.json	germ cell cancer of corpus uteri|germ cell cancer of the corpus uteri|body of uterus malignant germ cell tumor|malignant germ cell tumor of the corpus uteri	http://purl.obolibrary.org/obo/MONDO_0016273	UMLS:CN201062|Orphanet:213751	ordo_disease
MONDO:0016274	biolink:Disease	obsolete rare cancer of cervix uteri	OBSOLETE. Rare cervical cancer.	UMLS:CN201063|UMLS:C0302592|Orphanet:213761	mondo.json	rare cervical malignant tumor|rare malignant tumor of cervix uteri|rare cervical cancer	http://purl.obolibrary.org/obo/MONDO_0016274	UMLS:CN201063|Orphanet:213761	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0016275	biolink:Disease	obsolete adenocarcinoma of cervix uteri			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016275		
MONDO:0100120	biolink:Disease	vector-borne disease	An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector.	MESH:D000079426	mondo.json	vector-borne infection|vector-borne infectious disease	http://purl.obolibrary.org/obo/MONDO_0100120	http://identifiers.org/mesh/D000079426	
MONDO:0100121	biolink:Disease	SCN4A-related myopathy, autosomal recessive	Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy.		mondo.json	congenital myopathy with "corona" fibers, selective muscle atrophy, and craniosynostosis|myopathy with ptosis and mild dystrophic pattern|SCN4A-related myopathy, autosomal recessive|congenital myopathy with severe fetal hypokinesia	http://purl.obolibrary.org/obo/MONDO_0100121		
MONDO:0100124	biolink:Disease	NAA10-related syndrome	Ab X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies.		mondo.json	NAA10 X-linked syndromic intellectual disability|NAA10-related syndrome|X-linked syndromic intellectual disability caused by mutation in NAA10	http://purl.obolibrary.org/obo/MONDO_0100124		disease_grouping
GO:0008366	biolink:NamedThing	axon ensheathment	Any process in which the axon of a neuron is insulated, and that insulation maintained, thereby preventing dispersion of the electrical signal.		mondo.json	nerve ensheathment|cellular nerve ensheathment|cellular axon ensheathment	http://purl.obolibrary.org/obo/GO_0008366		
MONDO:0043885	biolink:Disease	eye infectious disorder	An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma.	UMLS:C0015403|SCTID:128351009|NCIT:C45372|MESH:D015817	mondo.json	infection, eye|ocular infections|infection, ocular|infections, ocular|eye infection|ocular infection|infections, eye	http://purl.obolibrary.org/obo/MONDO_0043885	UMLS:C0015403|http://identifiers.org/mesh/D015817|http://identifiers.org/snomedct/128351009|NCIT:C45372	
MONDO:0100125	biolink:Disease	hallucinogen-persisting perception disorder	A perceptual disorder caused by intoxication with hallucinogen drugs, especially LSD. It is characterized by the recurrence of perceptive disturbances that first develop during intoxication. The contents of the perception and visual imagery range extensively and symptoms may include visual disturbances, hallucinations, and psychoses.	ICD10CM:F16.183	mondo.json	hallucinogen abuse with hallucinogen persisting perception disorder	http://purl.obolibrary.org/obo/MONDO_0100125		
MONDO:0100126	biolink:Disease	P5CS deficiency	An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy.		mondo.json	delta1-pyrroline-5-carboxylate synthetase deficiency|P5CS deficiency	http://purl.obolibrary.org/obo/MONDO_0100126		
MONDO:0100128	biolink:Disease	coinfection	The simultaneous infection of a host by multiple pathogen species.	UMLS:C0275524|MESH:D060085	mondo.json		http://purl.obolibrary.org/obo/MONDO_0100128	UMLS:C0275524|http://identifiers.org/mesh/D060085	
HGNC:28596	biolink:NamedThing	B3GALNT2			mondo.json		http://identifiers.org/hgnc/28596		
MONDO:0043881	biolink:Disease	obsolete acute eosinophilic leukemia	OBSOLETE. A poorly defined concept which at best is described as an extremely rare entity, possibly related to various subtypes of acute myeloid leukemia with abnormal eosinophils. (WHO, 2001)	MESH:D015472|SCTID:277604002|UMLS:C0023439|NCIT:C26813|EFO:1001888	mondo.json	leukemias, acute eosinophilic|eosinophilic leukemia, acute|eosinophilic leukemias, acute|acute eosinophilic leukemias|leukemia, acute eosinophilic|acute eosinophilic leukemia	http://purl.obolibrary.org/obo/MONDO_0043881	http://identifiers.org/mesh/D015472|http://identifiers.org/snomedct/277604002|UMLS:C0023439|NCIT:C26813	
MONDO:0100129	biolink:Disease	intracranial arachoid cyst	A cystic malformation that is characterized by extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid.	OMIM:207790	mondo.json	arachnoid cysts, intracranial|intracranial arachnoid cysts	http://purl.obolibrary.org/obo/MONDO_0100129	https://omim.org/entry/207790	
MONDO:0043878	biolink:Disease	hereditary optic atrophy	A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve.	MESH:D015418|OMIMPS:165500|NCIT:C34864|UMLS:C0029125|SCTID:26360005	mondo.json	atrophy, hereditary optic|optic atrophy, hereditary|hereditary optic atrophy|Atrophies, hereditary optic|hereditary optic Atrophies	http://purl.obolibrary.org/obo/MONDO_0043878	UMLS:C0029125|http://identifiers.org/mesh/D015418|https://omim.org/phenotypicSeries/PS165500|http://identifiers.org/snomedct/26360005|NCIT:C34864	
MONDO:0100130	biolink:Disease	adult acute respiratory distress syndrome	A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%.	UMLS:C0035222|DOID:11394|Orphanet:70578|SCTID:67782005|MESH:D012128	mondo.json	adult RDS|respiratory distress syndrome, adult|ARDS|adult ARDS|adult acute respiratory distress syndrome|adult respiratory distress syndrome, ARDS|adult respiratory distress syndrome	http://purl.obolibrary.org/obo/MONDO_0100130	http://identifiers.org/mesh/D012128|http://identifiers.org/snomedct/67782005|UMLS:C0035222|Orphanet:70578|DOID:11394	ordo_disease
MONDO:0100131	biolink:Disease	pediatric acute respiratory distress syndrome	Acute respiratory distress syndromet that occurs in pediatric patients and includes findings of new infiltrates (unilateral or bilateral) consistent with acute parenchymal disease, edema not fully explained by fluid overload or cardiac failure, and may present as new acute lung disease in setting of chronic lung disease and/or heart disease, and perinatal lung disease is excluded.		mondo.json	PARDS	http://purl.obolibrary.org/obo/MONDO_0100131		
MONDO:0100132	biolink:Disease	intrahepatic bile duct adenosquamous carcinoma	An adenosquamous carcinoma that arises from the intrahepatic bile ducts.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100132		
MONDO:0043895	biolink:Disease	ankle injury	Harm or hurt to the ankle or ankle joint usually inflicted by an external source.	EFO:1001832|MESH:D016512|SCTID:125603006	mondo.json	Injuries, ankle|injury, ankle|tarsal region injury|ankle sprain|ankle Sprains|Injuries, syndesmotic|injury, syndesmotic|injury of tarsal region|ankle injury|syndesmotic injury|syndesmotic Injuries|sprain, ankle|injury of ankle|Sprains, ankle	http://purl.obolibrary.org/obo/MONDO_0043895	http://identifiers.org/snomedct/125603006|http://identifiers.org/mesh/D016512	
MONDO:0100133	biolink:Disease	mitochondrial complex I deficiency	A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene.	Orphanet:2609|GARD:0003908|MESH:C537475|UMLS:C2936907|DOID:0060536	mondo.json	isolated NADH-CoQ reductase deficiency|isolated complex I deficiency|NADH coenzyme Q reductase deficiency|isolated mitochondrial respiratory chain complex I deficiency|isolated NADH-coenzyme Q reductase deficiency|complex 1 mitochondrial respiratory chain deficiency|isolated NADH-ubiquinone reductase deficiency	http://purl.obolibrary.org/obo/MONDO_0100133	DOID:0060536|Orphanet:2609|http://identifiers.org/mesh/C537475	ordo_disease|gard_rare
MONDO:0100134	biolink:Disease	mitochondrial complex I deficiency, mitochondrial type			mondo.json		http://purl.obolibrary.org/obo/MONDO_0100134		
MONDO:0100135	biolink:Disease	Dravet syndrome	Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A.	DOID:0060171|ICD9:345.10|UMLS:C0751122|SCTID:230437002|DOID:0080422|GARD:0010430|NCIT:C116573	mondo.json	Dravet syndrome|myoclonic epilepsy, severe, of infancy|DS|SME	http://purl.obolibrary.org/obo/MONDO_0100135	DOID:0080422|NCIT:C116573|UMLS:C0751122|http://identifiers.org/snomedct/230437002	gard_rare
MONDO:0100136	biolink:Disease	obsolete Fanconia anemia complementation group M	OBSOLETE Any Fanconi anemia in which the cause of the disease is a mutation in the FANCM gene.		mondo.json	Fanconi anemia caused by mutation in FANCM|FANCM Fanconi anemia	http://purl.obolibrary.org/obo/MONDO_0100136		
MONDO:0100137	biolink:Disease	telomere syndrome	Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths.		mondo.json	short telomere syndrome|STS	http://purl.obolibrary.org/obo/MONDO_0100137		
MONDO:0100138	biolink:Disease	X-linked recessive mitochondrial myopathy	A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features.		mondo.json	X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features	http://purl.obolibrary.org/obo/MONDO_0100138		
MONDO:0100139	biolink:Disease	obsolete asymptomatic COVID-19 infection	OBSOLETE. A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms across the entire course of the disease.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100139		
GO:0008374	biolink:NamedThing	O-acyltransferase activity	Catalysis of the transfer of an acyl group to an oxygen atom on the acceptor molecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0008374		
MONDO:0043892	biolink:Disease	prosthesis-related infectious disease	A bacterial infection related to a device used to replace a missing body part. The infection may occur during the operation from direct contamination or post-operatively through hematogenous spread.	MESH:D016459|EFO:1002021|NCIT:C79705	mondo.json	prosthesis-related infection|infections, prosthesis-related|prosthesis related infections|device related infection	http://purl.obolibrary.org/obo/MONDO_0043892	http://identifiers.org/mesh/D016459|NCIT:C79705	
GO:0008373	biolink:NamedThing	sialyltransferase activity	Catalysis of the transfer of sialic acid to an acceptor molecule, typically the terminal portions of the sialylated glycolipids (gangliosides) or to the N- or O-linked sugar chains of glycoproteins.		mondo.json		http://purl.obolibrary.org/obo/GO_0008373		
MONDO:0800101	biolink:Disease	NMNAT1-related retinopathy	A retinopathy, typically severe and early onset, caused by biallelic variants in the NMNAT1 gene. Some patients have been reported to have spondyloepiphyseal dysplasia syndrome, including sensorineural hearing loss, intellectual disability in addition to retinopathy. However, additional studies are needed to definitively describe this disease association.		mondo.json	SHILCA|Leber congenital amaurosis type 9|spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis|NMNAT1-related retinopathy|amaurosis congenita of Leber, type 9|LCA9|NMNAT1 Leber congenital amaurosis|SHILCA Syndrome|Leber congenital amaurosis caused by mutation in NMNAT1|Leber congenital amaurosis 9	http://purl.obolibrary.org/obo/MONDO_0800101		
MONDO:0800102	biolink:Disease	CNGA3-related retinopathy	A retinopathy, typically described as achromatopsia, caused by biallelic variants in the CNGA3 gene.		mondo.json	rod monochromatism 2|achromatopsia caused by mutation in CNGA3|CNGA3-related retinopathy|RMCH2|achromatopsia 2|achromatopsia type 2|colorblindness, total|CNGA3 achromatopsia|ACHM2|rod monochromacy 2	http://purl.obolibrary.org/obo/MONDO_0800102		
MONDO:0800100	biolink:Disease	RDH12-related dominant retinopathy	A retinopathy caused by gain of function, heterozygous variants in the RDH12 gene, and associated with late onset retinopathy with a mild phenotype, characterized by nyctalopia and visual field loss, but relatively preserved central vision.		mondo.json	RDH12-related dominant retinopathy	http://purl.obolibrary.org/obo/MONDO_0800100		
GO:0008380	biolink:NamedThing	RNA splicing	The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA.		mondo.json	pre-mRNA splicing factor activity	http://purl.obolibrary.org/obo/GO_0008380		
MONDO:0800105	biolink:Disease	catatonia	A psychiatric disorder featuring stupor, posturing, and echophenomena.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800105		
MONDO:0800106	biolink:Disease	disruptive behavior disorder	A mental disorder that includes conduct disorder (CD), oppositional defiant disorder (ODD), and attention Deficit Hyperactivity Disorder (ADHD). Features may include frequent aggression, deceitfulness, and defiance, and often persist through the lifespan.		mondo.json	disruptive disorder	http://purl.obolibrary.org/obo/MONDO_0800106		
MONDO:0800103	biolink:Disease	COACH syndrome 1	Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene.	OMIM:216360	mondo.json	cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis	http://purl.obolibrary.org/obo/MONDO_0800103	https://omim.org/entry/216360	
MONDO:0800104	biolink:Disease	immunodeficiency 105	Any immunodeficiency disease which the cause of the disease is a mutation in the PTPRC gene.	OMIM:619924	mondo.json	SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive|severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive|IMD105	http://purl.obolibrary.org/obo/MONDO_0800104	https://omim.org/entry/619924	
MONDO:0800109	biolink:Disease	persistent tachypnoe of infancy	A interstial lung disease characterized by the presence of persistent or intermittent tachypnea (usually noticed in neonatal period or after an acute infection for the first time in first months of life), crackles in 86 %, retractions in 82%, failure to thrive in 66%, chest wall abnormalities in 22% and hypoxemia or desaturation in 88%.		mondo.json	PTI	http://purl.obolibrary.org/obo/MONDO_0800109		
MONDO:0800107	biolink:Disease	anterior deviation infundibular septum		SCTID:448619007|UMLS:756812	mondo.json		http://purl.obolibrary.org/obo/MONDO_0800107	http://identifiers.org/snomedct/448619007|UMLS:756812	
MONDO:0800108	biolink:Disease	cleft leaflet of tricuspid valve		SCTID:60232001|UMLS:576470	mondo.json	cleft tricuspid valve	http://purl.obolibrary.org/obo/MONDO_0800108	http://identifiers.org/snomedct/60232001|UMLS:576470	
MONDO:0100140	biolink:Disease	obsolete mild COVID-19 infection	OBSOLETE. A COVID-19 infection that presents with various signs and symptoms (e.g., fever, cough, sore throat, malaise, headache, muscle pain) without shortness of breath, dyspnea, or abnormal imaging.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100140		
MONDO:0100141	biolink:Disease	obsolete moderate COVID-19 infection	OBSOLETE. A COVID-19 infection where individuals who have evidence of lower respiratory disease by clinical assessment or imaging and a saturation of oxygen (SpO2) >93% on room air at sea level.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100141		
MONDO:0100142	biolink:Disease	obsolete severe COVID-19 infection	OBSOLETE. A COVID-19 infection where individuals have respiratory frequency >30 breaths per minute, SpO2 ≤93% on room air at sea level, ratio of arterial partial pressure of oxygen to fraction of inspired oxygen (PaO2/FiO2) <300, or lung infiltrates >50%.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100142		
GO:0008348	biolink:NamedThing	negative regulation of antimicrobial humoral response	Any process that stops, prevents, or reduces the frequency, rate, or extent of an antimicrobial humoral response.		mondo.json	attenuation of antimicrobial humoral response|down regulation of antimicrobial humoral response|inhibition of antimicrobial humoral response|down-regulation of antimicrobial humoral response|downregulation of antimicrobial humoral response	http://purl.obolibrary.org/obo/GO_0008348		
MONDO:0100143	biolink:Disease	obsolete critical COVID-19 infection	OBSOLETE. A COVID-19 infection that involves respiratory failure, septic shock, and/or multiple organ dysfunction.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100143		
MONDO:0100144	biolink:Disease	Uner Tan Syndrome	A tubulinopathy with material basis in TUBB2B that is characterized by variations in R390Q, quadrupedal locomotion, cerebellar hypoplasia and does not have basal ganglia malformations.		mondo.json	recessive quadrupedalism	http://purl.obolibrary.org/obo/MONDO_0100144		
MONDO:0100145	biolink:Disease	obsolete presymptomatic COVID-19 infection	OBSOLETE. A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms when they first test positive, but develop symptoms later on.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100145		
MONDO:0100146	biolink:Disease	ATP6AP2-related disorder	Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked Parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes.		mondo.json	ATP6AP2-related disorder	http://purl.obolibrary.org/obo/MONDO_0100146		
MONDO:0100147	biolink:Disease	SATB2 associated disorder	A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies.	Orphanet:576278	mondo.json	SATB2-associated syndrome|SATB2 associated disorder|SAS	http://purl.obolibrary.org/obo/MONDO_0100147	Orphanet:576278	
MONDO:0100148	biolink:Disease	X-linked complex neurodevelopmental disorder	A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy.		mondo.json	X-linked complex neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0100148		
MONDO:0800112	biolink:Disease	non-atopic asthma	A type of asthma that isn't related to an allergy trigger like pollen or dust, and is less common than atopic asthma.		mondo.json	non-allergic asthma|instrinsic asthma	http://purl.obolibrary.org/obo/MONDO_0800112		
MONDO:0800113	biolink:Disease	necrotizing vasculitis	A type of vasculitis that is comprised of vasculitides that present with necrosis.		mondo.json	systemic vasculitis	http://purl.obolibrary.org/obo/MONDO_0800113		
MONDO:0800110	biolink:Disease	persistent tachypnoe of infancy, aberrant	Persistent tachypnoe of infancy that presents with additional minor abnormalities upon scanning, including ground-glass opacities in other locations, focal consolidations, parenchymal cysts or bronchial wall thickening (N=80; 37%).		mondo.json	PTI, aberrant	http://purl.obolibrary.org/obo/MONDO_0800110		
HGNC:28570	biolink:NamedThing	DNAAF6			mondo.json		http://identifiers.org/hgnc/28570		
MONDO:0800111	biolink:Disease	persistent tachypnoe of infancy, usual	Persistent tachypnoe of infancy that presents with with no other airway or parenchymal abnormalities upon scanning (N=80; 63%).		mondo.json	PTI, usual	http://purl.obolibrary.org/obo/MONDO_0800111		
CHEBI:141668	biolink:ChemicalSubstance	L-tyrosinal(1+)	A primary ammonium ion resulting from the protonation of the amino group of L-tyrosinal.		mondo.json	L-tyrosinal|(2S)-1-(4-hydroxyphenyl)-3-oxopropan-2-aminium|(2S)-1-(p-hydroxyphenyl)-3-oxopropan-2-aminium	http://purl.obolibrary.org/obo/CHEBI_141668		
MONDO:0800117	biolink:Disease	cutaneous botryomycosis	A botromycosis that involves the skin and subcutaneous tissue (it is a more common type).		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800117		
MONDO:0800114	biolink:Disease	follicular bronchiolits	A polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the development of lymphoid follicles with germinal centers in walls of the small airways.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800114		
MONDO:0800118	biolink:Disease	visceral botryomycosis	A botryomycosis that involves internal organs such as lungs, liver, or brain. It is a rare disease and has been described mainly in patients with underlying diseases such as diabetes mellitus, cystic fibrosis, or HIV infection. It is most commonly affecting the lungs, although involvement of other organs including liver, spleen, kidney, and brain has also been described.		mondo.json	pulmonary botromycosis	http://purl.obolibrary.org/obo/MONDO_0800118		
MONDO:0800119	biolink:Disease	postinfectious bronchiolitis obliterans	An irreversible obstructive lung disease characterized by subepithelial inflammation and fibrotic narrowing of the bronchioles after lower respiratory tract infection during childhood, especially early childhood. Although diagnosis of PIBO should be confirmed by histopathology, it is generally based on history and clinical findings. Irreversible airway obstruction is demonstrated by decreased forced expiratory volume in 1 second with an absent bronchodilator response, and by mosaic perfusion, air trapping, and/or bronchiectasis on computed tomography images. However, lung function tests using spirometry are not feasible in young children, and most cases of PIBO develop during early childhood.		mondo.json	PIBO	http://purl.obolibrary.org/obo/MONDO_0800119		
CHR:9606-chr3q13.31	biolink:NamedThing	3q13.31 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr3q13.31		
MONDO:0100150	biolink:Disease	RYR1-related myopathy			mondo.json	RYR1-related myopathy	http://purl.obolibrary.org/obo/MONDO_0100150		
MONDO:0100151	biolink:Disease	nephropathic cystinosis	An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction.	UMLS:C2930877|OMIM:219800|NCIT:C129932|MESH:C535335	mondo.json	Abderhalden-Kaufmann-Lignac syndrome|CTNS|cystinosis, nephropathic|Abderhalden Lignac Kaufmann disease|cystinosis, atypical nephropathic|Abderhalden Kaufmann Lignac syndrome|Abderhalden-Lignac-Kaufmann disease	http://purl.obolibrary.org/obo/MONDO_0100151	UMLS:C2930877|NCIT:C129932|http://identifiers.org/mesh/C535335|https://omim.org/entry/219800	
MONDO:0100152	biolink:Disease	DKC1-related disorder	Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene.		mondo.json	DKC1-related disorder	http://purl.obolibrary.org/obo/MONDO_0100152		
MONDO:0100156	biolink:Disease	Imerslund-Grasbeck syndrome type 1	An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances.	OMIM:261100|NCIT:C131677	mondo.json	enterocyte intrinsic factor receptor, defect of|megaloblastic Anemia type 1|megaloblastic anemia, 1|Imerslund-Grasbeck syndrome 1|Mga1|MGA1|Imerslund-Grasbeck syndrome type 1|pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria|MGA-1|enterocyte cobalamin malabsorption|megaloblastic anemia, Finnish type	http://purl.obolibrary.org/obo/MONDO_0100156	https://omim.org/entry/261100|NCIT:C131677	
MONDO:0100157	biolink:Disease	Imerslund-Grasbeck syndrome type 2	An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF).	OMIM:618882	mondo.json	Imerslund-Grasbeck syndrome 2|megaloblastic anemia, Norwegian type	http://purl.obolibrary.org/obo/MONDO_0100157	https://omim.org/entry/618882	
MONDO:0800120	biolink:Disease	Mac-Leod-Swyer-James-Syndrome	A rare lung condidtion characterized by often predominantly unilateral lung hyperlucency and air trapping. The condition is a post-infectious form of bronchiolitis obliterans and typically follows a viral respiratory infection in infancy and childhood. Adenovirus infection is considered the most usual epidemiology. In SJS, the involved lung or portion of the lung does not grow normally and is slightly smaller than the opposite lung: in particular, peripheral branches of the pulmonary vessels do not develop, and vasculature is arreseted at the stage at which the infection occurred. Patients respond well to management with bronchodilators, even though this is not primarily a bronchial abnormality.		mondo.json	Swyer-James-(Macleod)-Syndrome|SJS	http://purl.obolibrary.org/obo/MONDO_0800120		
MONDO:0800123	biolink:Disease	bronchiolocentric pattern of interstitial pneumonia	An interstitial lung disease characterized histologically by fibrosis and/or inflammation confined to the alveolar interstitium around bronchovascular bundles, overlapping with peribronchial metaplasia, fibrosis in some series and the lack of interstitial granulomas.		mondo.json	BPIP	http://purl.obolibrary.org/obo/MONDO_0800123		
MONDO:0800124	biolink:Disease	Lane Hamilton syndrome	A rare concurrent association of idiopathic pulmonary hemosiderosis and celiac disease, and is typically seen in children under the age of 15.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800124		
MONDO:0800121	biolink:Disease	cellular interstitial pneumonitis	An interstitial lung disease specific to infancy that is characterized by tachypnea at birth and persistent disease, diffuse interstitial thickening due to pale oval and spindle-shaped histiocytes without scarring.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800121		
MONDO:0800127	biolink:Disease	pulmonary amyloidosis	A rare hereditary amyloidosis that incorporates deposition of amyloid microfibril material in the lung parenchyma.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800127		
MONDO:0800128	biolink:Disease	combined immunodeficiency due to POLE2 deficiency	Any combined immunodeficiency due to a deficiency in the POLE2 gene.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800128		
MONDO:0800125	biolink:Disease	disseminated visceral giant cell angiitis	A necrotizing vasculitis characterized by widespread small-vessel giant cell angitis and extravascular granulomas.		mondo.json	disseminated visceral giant cell arteristic|disseminated visceral giant cell arteritis	http://purl.obolibrary.org/obo/MONDO_0800125		
MONDO:0800126	biolink:Disease	dystrophic pulmonary ossification	A rare lung disorder characterized by ectopic bone formation within lung parenchyma. DPO can be idiopathic or associated with a variety of cardiovascular, respiratory diseases or other disorders. There are mainly two forms of DPO: nodular and dendriform.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800126		
MONDO:0800129	biolink:Disease	autoinflammatory disease, X-linked	An autoinflammatory syndrome characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy.	OMIM:301081	mondo.json	NEMO deleted exon 5 syndrome|autoinflammatory syndrome, X-linked|autoinflammatory syndrome, X-linked	http://purl.obolibrary.org/obo/MONDO_0800129	https://omim.org/entry/301081	
CHEBI:138015	biolink:ChemicalSubstance	endocrine disruptor	Any compound that can disrupt the functions of the endocrine (hormone) system		mondo.json	endocrine disrupting compound|endocrine disrupting compounds|endocrine-disrupting chemical|endocrine disrupting chemical|hormonally active agent|endocrine disrupting chemicals|hormonally active agents|endocrine-disrupting chemicals|endocrine disruptors	http://purl.obolibrary.org/obo/CHEBI_138015		
HGNC:26019	biolink:NamedThing	BPNT2			mondo.json		http://identifiers.org/hgnc/26019		
HGNC:16691	biolink:NamedThing	TUBGCP4			mondo.json		http://identifiers.org/hgnc/16691		
MONDO:0004357	biolink:Disease	carcinoma of supraglottis	A carcinoma of the larynx that arises from the supraglottic area.	NCIT:C5973|SCTID:372105009|UMLS:C1299240|DOID:7763	mondo.json	carcinoma of the supraglottis|supraglottic cancer|supraglottis carcinoma|carcinoma of supraglottic part of larynx|supraglottic part of larynx carcinoma|supraglottic throat cancer|supraglottic carcinoma|cancer of supraglottis|cancer of the supraglottis|carcinoma of supraglottis	http://purl.obolibrary.org/obo/MONDO_0004357	NCIT:C5973|DOID:7763|http://identifiers.org/snomedct/372105009|UMLS:C1299240	
CHEBI:22501	biolink:ChemicalSubstance	aminodiol	An amino alcohol having two hydroxy functional groups.		mondo.json	amino diol|aminodiols|amino diols	http://purl.obolibrary.org/obo/CHEBI_22501		
MONDO:0004356	biolink:Disease	childhood multilocular cystic kidney neoplasm	A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present.	UMLS:C1332983|NCIT:C6566|DOID:7762	mondo.json	pediatric multilocular cystic kidney neoplasm|pediatric multilocular cystic kidney tumor|childhood multilocular cystic renal neoplasm|childhood multilocular cystic kidney neoplasm|childhood multilocular cystic kidney tumor|pediatric multilocular cystic renal neoplasm|childhood multilocular cystic renal tumor|pediatric multilocular cystic renal tumor|benign multilocular cystic renal tumor	http://purl.obolibrary.org/obo/MONDO_0004356	DOID:7762|UMLS:C1332983|NCIT:C6566	
MONDO:0004359	biolink:Disease	delusional disorder	A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s).	NCIT:C94379|DOID:778|ICD9:297.1|SCTID:48500005|ICD10WHO:F22.0|MESH:D012563	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004359	https://icd.who.int/browse10/2019/en#/F22.0|http://identifiers.org/snomedct/48500005|NCIT:C94379|DOID:778	
MONDO:0004358	biolink:Disease	subglottis carcinoma	A carcinoma of the larynx that arises from the subglottic area.	UMLS:C1299239|NCIT:C5972|SCTID:372104008|DOID:7764	mondo.json	carcinoma of the subglottis|carcinoma of subglottis|subglottis carcinoma|subglottic throat cancer|cancer of subglottis|cancer of the subglottis|subglottic cancer|subglottic carcinoma	http://purl.obolibrary.org/obo/MONDO_0004358	NCIT:C5972|DOID:7764|http://identifiers.org/snomedct/372104008|UMLS:C1299239	
MONDO:0004353	biolink:Disease	extrahepatic biliary papillomatosis	A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the extrahepatic bile ducts.	UMLS:C1333511|NCIT:C7124|DOID:7752	mondo.json	extrahepatic bile duct papillary neoplasm|extrahepatic bile duct papillomatosis|extrahepatic biliary papillomatosis	http://purl.obolibrary.org/obo/MONDO_0004353	DOID:7752|UMLS:C1333511|NCIT:C7124	
MONDO:0004352	biolink:Disease	adult brain ependymoma	An ependymoma of the brain occurring in adults.	UMLS:C1332186|DOID:7750|NCIT:C9372	mondo.json	adult brain ependymoma|brain ependymoma	http://purl.obolibrary.org/obo/MONDO_0004352	DOID:7750|UMLS:C1332186|NCIT:C9372	
MONDO:0004355	biolink:Disease	childhood leukemia	An acute or chronic leukemia that occurs during childhood.	DOID:7757|NCIT:C4989|UMLS:C1332977	mondo.json	leukemia (disease) of childhood|childhood leukemia (disease)|childhood leukemia|pediatric leukemia (disease)|leukemia	http://purl.obolibrary.org/obo/MONDO_0004355	NCIT:C4989|DOID:7757|UMLS:C1332977	
MONDO:0004354	biolink:Disease	neonatal leukemia	Leukemia that occurs during the neonatal period.	DOID:7756|NCIT:C3845|UMLS:C0235813	mondo.json	neonatal leukemia	http://purl.obolibrary.org/obo/MONDO_0004354	NCIT:C3845|DOID:7756|UMLS:C0235813	
MONDO:0004351	biolink:Disease	intraocular lymphoma	A lymphoma that arises within the eye. Signs and symptoms include decreased vision, uveitis, and vitreous floaters.	SCTID:420788006|DOID:775|MESH:D064090|NCIT:C9184|ICD9:200.50|Orphanet:279904	mondo.json	primary intraocular non-Hodgkin's lymphoma|primary intraocular lymphoma|PIOL|intraocular lymphoma	http://purl.obolibrary.org/obo/MONDO_0004351	NCIT:C9184|DOID:775|http://identifiers.org/mesh/D064090|Orphanet:279904|http://identifiers.org/snomedct/420788006	ordo_disease
MONDO:0004350	biolink:Disease	pediatric extraocular retinoblastoma	Retinoblastoma during childhood that has spread beyond the eye.	DOID:7747|UMLS:C1321870|NCIT:C9048	mondo.json	pediatric extraocular retinoblastoma|childhood extraocular retinoblastoma|extraocular retinoblastoma|childhood metastatic retinoblastoma|extraocular retinoblastoma of childhood	http://purl.obolibrary.org/obo/MONDO_0004350	DOID:7747|UMLS:C1321870|NCIT:C9048	
HGNC:26013	biolink:NamedThing	DNAAF5			mondo.json		http://identifiers.org/hgnc/26013		
HP:0005406	biolink:PhenotypicFeature	Recurrent bacterial skin infections	Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.	UMLS:C1835686	mondo.json	Recurrent episodes of infectious dermatitis|Recurrent cutaneous pyogenic infections|Recurrent bacterial skin infections|Recurrent episodes of impetigo|Recurrent pyogenic skin infections	http://purl.obolibrary.org/obo/HP_0005406		
MONDO:0043959	biolink:Disease	pseudolymphoma	A neoplastic process that resembles a malignant lymphoma, but has a benign course.	SCTID:19750001|MESH:D019310|NCIT:C3825|EFO:1001414|UMLS:C0221269	mondo.json	lymphocytomas|hyperplasias, reactive lymphoid|hyperplasia, reactive lymphoid|lymphoid hyperplasia, reactive|pseudolymphoma|benign lymphoid hyperplasia|lymphocytoma|lymphoid Hyperplasias, reactive|reactive lymphoid hyperplasia|pseudolymphomas|reactive lymphoid Hyperplasias	http://purl.obolibrary.org/obo/MONDO_0043959	http://identifiers.org/mesh/D019310|http://identifiers.org/snomedct/19750001|UMLS:C0221269|NCIT:C3825	
MONDO:0016346	biolink:Disease	hydrocephalus-obesity-hypogonadism syndrome	This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.	GARD:0002775|SCTID:721231007|UMLS:CN201182|Orphanet:2183	mondo.json	congenital hydrocephalus oligophrenia dwarfism centripetal obesity and hypogonadism|hydrocephalus obesity hypogonadism|Sengers-Hamel-Otten syndrome	http://purl.obolibrary.org/obo/MONDO_0016346	Orphanet:2183|UMLS:CN201182|http://identifiers.org/snomedct/721231007	ordo_malformation_syndrome
MONDO:0043953	biolink:Disease	burkholderia infectious disease	Infections with bacteria of the genus Burkholderia.	SCTID:721736003|MESH:D019121|EFO:1001280	mondo.json	Burkholderia disease or disorder|Burkholderia infectious disease|burkholderia infectious disease|infection, Burkholderia|Burkholderia caused disease or disorder|infections, Burkholderia|Burkholderia infection|infection caused by Burkholderia	http://purl.obolibrary.org/obo/MONDO_0043953	http://identifiers.org/mesh/D019121|http://identifiers.org/snomedct/721736003	
MONDO:0016347	biolink:Disease	obsolete rare cardiac rhythm disease	OBSOLETE. A rare form of cardiac rhythm disease.	UMLS:CN201185|Orphanet:218436	mondo.json	rare cardiac rhythm disease	http://purl.obolibrary.org/obo/MONDO_0016347	UMLS:CN201185|Orphanet:218436	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0016348	biolink:Disease	non-genetic cardiac rhythm disease		Orphanet:218439|UMLS:CN201186	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016348	UMLS:CN201186|Orphanet:218439	ordo_group_of_disorders|disease_grouping
MONDO:0016349	biolink:Disease	congenital hydrocephalus	Hydrocephalus that is present at birth.	ICD10CM:Q03|UMLS:C0020256|OMIMPS:236600|MedDRA:10010506|SCTID:47032000|NCIT:C98876|Orphanet:2185	mondo.json	congenital hydrocephalus|HYC3	http://purl.obolibrary.org/obo/MONDO_0016349	UMLS:C0020256|Orphanet:2185|https://omim.org/phenotypicSeries/PS236600|http://identifiers.org/snomedct/47032000|http://purl.bioontology.org/ontology/ICD10CM/Q03|NCIT:C98876	ordo_malformation_syndrome
MONDO:0016342	biolink:Disease	familial isolated arrhythmogenic right ventricular dysplasia	Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.	UMLS:C4274968|Orphanet:217656|OMIMPS:107970|SCTID:715865008|UMLS:CN226907	mondo.json	familial isolated arrhythmogenic right ventricular cardiomyopathy|familial isolated ARVC|familial isolated arrhythmogenic ventricular cardiomyopathy|familial isolated arrhythmogenic ventricular dysplasia|familial isolated arrhythmogenic right ventricular dysplasia|familial isolated ARVD	http://purl.obolibrary.org/obo/MONDO_0016342	UMLS:C4274968|https://omim.org/phenotypicSeries/PS107970|UMLS:CN226907|Orphanet:217656|http://identifiers.org/snomedct/715865008	ordo_disease
MONDO:0016343	biolink:Disease	obsolete unclassified cardiomyopathy		Orphanet:217678	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016343	Orphanet:217678	ordo_group_of_disorders|disease_grouping
CHEBI:22506	biolink:ChemicalSubstance	aminoglycan			mondo.json	aminoglycans	http://purl.obolibrary.org/obo/CHEBI_22506		
MONDO:0016344	biolink:Disease	hydranencephaly	A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor.	GARD:0006681|DOID:4626|SCTID:30023002|Orphanet:2177|UMLS:C0020225|HP:0002324|NCIT:C98949|MESH:D006832	mondo.json	Hydroanencephaly|hydranencephaly|hydranencephaly (disease)	http://purl.obolibrary.org/obo/MONDO_0016344	Orphanet:2177|http://identifiers.org/snomedct/30023002|DOID:4626|http://identifiers.org/mesh/D006832|NCIT:C98949|UMLS:C0020225	ordo_malformation_syndrome
MONDO:0016345	biolink:Disease	non-familial restrictive cardiomyopathy		EFO:1001473|UMLS:CN226908|Orphanet:217720	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016345	UMLS:CN226908|Orphanet:217720	disease_grouping|ordo_group_of_disorders
GO:0070278	biolink:NamedThing	extracellular matrix constituent secretion	The controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell.		mondo.json	ECM constituent secretion|ECM secretion	http://purl.obolibrary.org/obo/GO_0070278		
HGNC:16692	biolink:NamedThing	CD320			mondo.json		http://identifiers.org/hgnc/16692		
MONDO:0016340	biolink:Disease	familial restrictive cardiomyopathy	An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome.	SCTID:233878008|OMIMPS:115210|Orphanet:217635|ICD9:425.4	mondo.json	hereditary restrictive cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0016340	http://identifiers.org/snomedct/233878008|https://omim.org/phenotypicSeries/PS115210|Orphanet:217635	ordo_group_of_disorders|disease_grouping
HGNC:16695	biolink:NamedThing	BCAP31			mondo.json		http://identifiers.org/hgnc/16695		
MONDO:0016341	biolink:Disease	obsolete lysosomal disease with restrictive cardiomyopathy		Orphanet:217638|UMLS:CN201171	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016341	UMLS:CN201171|Orphanet:217638	ordo_group_of_disorders
MONDO:0004368	biolink:Disease	sphenoorbital meningioma	A meningioma that affects the sphenoorbital region.	UMLS:C1336040|NCIT:C5285|DOID:7819	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004368	DOID:7819|UMLS:C1336040|NCIT:C5285	
MONDO:0004367	biolink:Disease	petroclival meningioma	A meningioma that affects the petroclival region.	UMLS:C1335395|NCIT:C5278|DOID:7818	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004367	DOID:7818|NCIT:C5278|UMLS:C1335395	
MONDO:0004369	biolink:Disease	renal infectious disease		ICD9:590|ICD9:590.9|DOID:782	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004369	DOID:782	
MONDO:0004364	biolink:Disease	choroid necrotic melanoma		NCIT:C6865|DOID:7807|UMLS:C1333026	mondo.json	necrotic melanoma of choroid|necrotic choroid melanoma|choroid necrotic melanoma|necrotic melanoma of the choroid	http://purl.obolibrary.org/obo/MONDO_0004364	DOID:7807|NCIT:C6865|UMLS:C1333026	
MONDO:0004363	biolink:Disease	adult spinal cord glioblastoma	A rare spinal tumor which is highly malignant and tends to be locally invasive of surrounding neural tissue. The tumor also tends to spread throughout the neuroaxis and is often rapidly progressive. Histologically the tumors are highly cellular with nuclear and cellular pleomorphism, endothelial proliferation, mitotic figures, and, often, necrosis. This tumor has a relatively poor prognosis. Clinical features may include pain followed by rapidly progressive neurologic deficits such as extremity weakness, sensory changes, spasticity, and incontinence. (From Innocenzi et al., Clin Neurol Neurosurg 1997 Feb;99(1):1-5)	NCIT:C27183|SCTID:276829003|DOID:7806|UMLS:C0559185	mondo.json	adult spinal cord glioblastoma|glioblastoma multiforme of spinal cord|adult spinal cord glioblastoma multiforme	http://purl.obolibrary.org/obo/MONDO_0004363	DOID:7806|NCIT:C27183|UMLS:C0559185|http://identifiers.org/snomedct/276829003	
HGNC:26022	biolink:NamedThing	TRMT10C			mondo.json		http://identifiers.org/hgnc/26022		
MONDO:0004366	biolink:Disease	mixed astrocytoma-ependymoma-oligodendroglioma	A mixed glioma characterized by the presence of astrocytic, ependymal, and oligodendroglial neoplastic components.	NCIT:C8272|DOID:7817|UMLS:C0280792	mondo.json	mixed astrocytoma-ependymoma-oligodendroglioma	http://purl.obolibrary.org/obo/MONDO_0004366	DOID:7817|NCIT:C8272|UMLS:C0280792	
MONDO:0004365	biolink:Disease	necrotic uveal melanoma	A uveal melanoma characterized by the presence of tumor cell necrosis.	NCIT:C7990|DOID:7808|UMLS:C1334931	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004365	DOID:7808|NCIT:C7990	
MONDO:0004360	biolink:Disease	breast extraskeletal osteosarcoma	An osteosarcoma arising from the breast tissue.	UMLS:C1335149|DOID:7787|NCIT:C5189	mondo.json	osteogenic sarcoma of breast|breast extraskeletal osteosarcoma|osteogenic breast sarcoma|osteosarcoma of breast|osteosarcoma of the breast|breast osteosarcoma|breast osteosarcoma (disease)|osteogenic sarcoma of the breast	http://purl.obolibrary.org/obo/MONDO_0004360	NCIT:C5189|UMLS:C1335149|DOID:7787	
MONDO:0004362	biolink:Disease	obsolete placenta disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004362		
MONDO:0004361	biolink:Disease	adult spinal cord ependymoma	An ependymoma of the spinal cord occurring in adults.	DOID:7788|UMLS:C1332215|NCIT:C27399	mondo.json	adult spinal cord ependymoma|spinal cord ependymoma|spinal cord ependymoma of adults	http://purl.obolibrary.org/obo/MONDO_0004361	UMLS:C1332215|NCIT:C27399|DOID:7788	
MONDO:0043969	biolink:Disease	nocturnal paroxysmal dystonia	A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night.	EFO:1001772|MESH:D020183|SCTID:230500006|UMLS:C0393777	mondo.json	dystonias, nocturnal paroxysmal|dystonia, sleep-related|sleep-related dystonia|hypnogenic paroxysmal dystonia|dystonia, nocturnal, paroxysmal|nocturnal paroxysmal dystonias|dystonias, hypnogenic paroxysmal|hypnogenic paroxysmal dystonias|paroxysmal dystonia, nocturnal|paroxysmal dystonias, nocturnal|dystonia, nocturnal paroxysmal|dystonias, sleep-related|dystonia, hypnogenic paroxysmal|paroxysmal dystonias, hypnogenic|paroxysmal dystonia, hypnogenic|sleep-related dystonias|sleep related dystonia	http://purl.obolibrary.org/obo/MONDO_0043969	http://identifiers.org/snomedct/230500006|http://identifiers.org/mesh/D020183|UMLS:C0393777	
MONDO:0016339	biolink:Disease	obsolete restrictive cardiomyopathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016339		
NCBITaxon:523089	biolink:OrganismalEntity	Haemaphysalis concinna		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_523089		
MONDO:0018998	biolink:Disease	Leber congenital amaurosis	Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.	Orphanet:65|MESH:D057130|GARD:0000634|DOID:14791|OMIMPS:204000|UMLS:C0339527|SCTID:193413001|MedDRA:10070667|ICD10CM:H35.5|NCIT:C129075	mondo.json	Leber's congenital tapetoretinal degeneration|congenital retinal blindness|amaurosis congenita of Leber|congenital absence of the rods and cones|Leber congenital amaurosis|Leber's congenital tapetoretinal dysplasia|Leber's amaurosis|Leber's congenital amaurosis|LCA|Leber's disease	http://purl.obolibrary.org/obo/MONDO_0018998	http://identifiers.org/mesh/D057130|NCIT:C129075|UMLS:C0339527|DOID:14791|http://identifiers.org/snomedct/193413001|https://omim.org/phenotypicSeries/PS204000|Orphanet:65	ordo_disease
MONDO:0016335	biolink:Disease	obsolete mitochondrial disease with dilated cardiomyopathy		UMLS:CN201166|Orphanet:217613	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016335	Orphanet:217613|UMLS:CN201166	ordo_group_of_disorders
MONDO:0018997	biolink:Disease	Noonan syndrome	Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.	GARD:0010955|DOID:3490|ICD9:759.89|NCIT:C34854|MedDRA:10029748|OMIMPS:163950|SCTID:205824006|Orphanet:648|UMLS:C0028326|MESH:D009634	mondo.json	Turner's phenotype, karyotype normal|Noonan-Ehmke syndrome|pseudo-Ullrich-Turner syndrome|Noonan's syndrome|Noonan syndrome|Ullrich-Noonan syndrome	http://purl.obolibrary.org/obo/MONDO_0018997	UMLS:C0028326|http://identifiers.org/mesh/D009634|Orphanet:648|NCIT:C34854|DOID:3490|https://omim.org/phenotypicSeries/PS163950|http://identifiers.org/snomedct/205824006	clingen|ordo_malformation_syndrome
MONDO:0016336	biolink:Disease	obsolete fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy		Orphanet:217616|UMLS:CN226905	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016336	Orphanet:217616|UMLS:CN226905	ordo_group_of_disorders
MONDO:0016337	biolink:Disease	obsolete syndrome associated with dilated cardiomyopathy		Orphanet:217619|UMLS:CN201167	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016337	Orphanet:217619|UMLS:CN201167	ordo_group_of_disorders
MONDO:0016338	biolink:Disease	non-familial dilated cardiomyopathy		UMLS:CN226906|Orphanet:217629	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016338	Orphanet:217629|UMLS:CN226906	disease_grouping|ordo_group_of_disorders
MONDO:0018999	biolink:Disease	LCAT deficiency	LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.	SCTID:49227001|Orphanet:650	mondo.json	lecithin-cholesterol acyltransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0018999	Orphanet:650|http://identifiers.org/snomedct/49227001	ordo_disease
MONDO:0018994	biolink:Disease	Charcot-Marie-Tooth disease type X	A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome.	SCTID:230552007|UMLS:CN205436|GARD:0012444|DOID:0050542|ICD9:356.9|Orphanet:64747	mondo.json	CMTX|COWCK|X-linked hereditary motor and sensory neuropathy|X-linked Charcot-Marie-Tooth disease	http://purl.obolibrary.org/obo/MONDO_0018994	http://identifiers.org/snomedct/230552007|DOID:0050542|UMLS:CN205436|Orphanet:64747	disease_grouping|ordo_group_of_disorders
MONDO:0016331	biolink:Disease	infantile systemic hyalinosis	Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.	SCTID:238867003|Orphanet:2176|OMIM:236490	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016331	Orphanet:2176|http://identifiers.org/snomedct/238867003	ordo_disease
MONDO:0018993	biolink:Disease	Charcot-Marie-Tooth disease type 2	A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.	ICD9:356.0|OMIM:604484|Orphanet:64746|GARD:0012431|SCTID:715665006|OMIM:118230|DOID:0050539	mondo.json	hereditary motor and sensory neuropathy Guadalajara neuronal type|hereditary motor and sensory neuropathy Okinawa type|autosomal dominant axonal Charcot-Marie-Tooth disease|Charcot-Marie-Tooth type 2|CMT2|autosomal dominant Charcot-Marie-Tooth disease type 2|hereditary motor and sensory neuropathy type 2	http://purl.obolibrary.org/obo/MONDO_0018993	http://identifiers.org/snomedct/715665006|DOID:0050539|Orphanet:64746	disease_grouping|ordo_group_of_disorders
MONDO:0016332	biolink:Disease	hypertrophic cardiomyopathy due to intensive athletic training		Orphanet:217601|UMLS:CN226904	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016332	UMLS:CN226904|Orphanet:217601	ordo_disease
MONDO:0018996	biolink:Disease	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.	MESH:C537308|DOID:0050755|OMIM:606002|SCTID:725408001|Orphanet:64753|UMLS:C1853761|GARD:0012860|UMLS:CN205441	mondo.json	SCAN2|ataxia-oculomotor apraxia 2|spinocerebellar ataxia, autosomal recessive type 1|SCAR1|spinocerebellar ataxia, autosomal recessive 1|ataxia-ocular apraxia 2|SCAN 2|ataxia-oculomotor apraxia type 2|AOA2|autosomal recessive spinocerebellar ataxia-1|ataxia with oculomotor apraxia type 2|spinocerebellar ataxia with axonal neuropathy type 2	http://purl.obolibrary.org/obo/MONDO_0018996	https://omim.org/entry/606002|http://identifiers.org/mesh/C537308|DOID:0050755|http://identifiers.org/snomedct/725408001|UMLS:CN205441|UMLS:C1853761|Orphanet:64753	ordo_disease
MONDO:0016333	biolink:Disease	familial dilated cardiomyopathy	A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.	Orphanet:217607|GARD:0000221|OMIMPS:115200|UMLS:C0340427|GARD:0002905|MESH:C536231	mondo.json	hereditary dilated cardiomyopathy|DCM|dilated cardiomyopathy, familial|idiopathic dilated cardiomyopathy|hypokinetic dilated cardiomyopathy, familial	http://purl.obolibrary.org/obo/MONDO_0016333	http://identifiers.org/mesh/C536231|https://omim.org/phenotypicSeries/PS115200|UMLS:C0340427|Orphanet:217607	disease_grouping|ordo_group_of_disorders
MONDO:0018995	biolink:Disease	Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.	DOID:0050541|SCTID:715795005|GARD:0012440|Orphanet:64749|UMLS:CN043578	mondo.json	CMT4|AR-CMT1|autosomal recessive demyelinating Charcot-Marie-Tooth	http://purl.obolibrary.org/obo/MONDO_0018995	DOID:0050541|UMLS:CN043578|http://identifiers.org/snomedct/715795005|Orphanet:64749	disease_grouping|ordo_group_of_disorders
MONDO:0016334	biolink:Disease	obsolete neuromuscular disease with dilated cardiomyopathy		UMLS:CN201165|Orphanet:217610	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016334	UMLS:CN201165|Orphanet:217610	ordo_group_of_disorders
HGNC:14048	biolink:NamedThing	MRPS16			mondo.json		http://identifiers.org/hgnc/14048		
MONDO:0018990	biolink:Disease	obsolete pulmonary blastoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018990		
MONDO:0018992	biolink:Disease	IgG4-related thyroid disease	Riedel thyroiditis is a fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficulB,ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease.	SCTID:89024000|NCIT:C35827|DOID:14351|Orphanet:64744|UMLS:C1335787|MedDRA:10039142	mondo.json	Riedel fibrosing thyroiditis|Riedel's fibrosing thyroiditis|Riedel thyroiditis|Riedel disease	http://purl.obolibrary.org/obo/MONDO_0018992	NCIT:C35827|http://identifiers.org/snomedct/89024000|DOID:14351|Orphanet:64744	ordo_disease
MONDO:0018991	biolink:Disease	hepatoportal sclerosis	Hepatoportal sclerosis (HPS) is a rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding.	SCTID:718096004|UMLS:C4273756|Orphanet:64743	mondo.json	obliterative portal venopathy	http://purl.obolibrary.org/obo/MONDO_0018991	UMLS:C4273756|http://identifiers.org/snomedct/718096004|Orphanet:64743	ordo_disease
MONDO:0016330	biolink:Disease	non-familial hypertrophic cardiomyopathy	An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual.	Orphanet:217598|UMLS:CN226903	mondo.json	acquired hypertrophic cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0016330	UMLS:CN226903|Orphanet:217598	disease_grouping|ordo_group_of_disorders
MONDO:0004339	biolink:Disease	tuberculum sellae meningioma	A meningioma that affects the tuberculum sellae.	UMLS:C1336829|NCIT:C5284|DOID:7713	mondo.json	sella turcica neoplasm of tuberculum sellae|meningioma of the tuberculum sellae|meningioma of tuberculum sellae|tuberculum sellae sella turcica neoplasm	http://purl.obolibrary.org/obo/MONDO_0004339	NCIT:C5284|UMLS:C1336829|DOID:7713	
GO:0070295	biolink:NamedThing	renal water absorption	A renal system process in which water is taken up from the collecting ducts and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures.		mondo.json	nephron water absorption|renal water reabsorption	http://purl.obolibrary.org/obo/GO_0070295		
MONDO:0004338	biolink:Disease	retinal cell cancer		NCIT:C7061|DOID:771|UMLS:C1335765	mondo.json	malignant neoplasm of retinal cell|cancer of retinal cell|retinal cell cancer|malignant retinal cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0004338	DOID:771	
GO:0070293	biolink:NamedThing	renal absorption	A renal system process in which water, ions, glucose and proteins are taken up from the collecting ducts, glomerulus and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures (e.g. protein absorption is observed in nephrocytes in Drosophila, see PMID:23264686).		mondo.json	nephron absorption|renal reabsorption	http://purl.obolibrary.org/obo/GO_0070293		
MONDO:0004335	biolink:Disease	digestive system disorder	A disease or disorder that involves the digestive system.	ICD9:520-579.99|SCTID:53619000|ICD9:V47.3|EFO:0000405|ICD10CM:K00-K95|MESH:D005767|NCIT:C2990|DOID:77	mondo.json	gastroenterological system disorder|disease of digestive system|gastrointestinal disease|gastrointestinal disorder|gastrointestinal system disease|gastroenteropathy|digestive system disease or disorder|digestive system disease|stomach or intestinal disorder|gastroenterological system disease|digestive system disorder|disease or disorder of digestive system|alimentary system disease|disorder of digestive system|git disease|digestive disease|gastrointestinal system disorder	http://purl.obolibrary.org/obo/MONDO_0004335	http://identifiers.org/mesh/D005767|DOID:77|http://purl.bioontology.org/ontology/ICD10CM/K00-K95|NCIT:C2990|http://identifiers.org/snomedct/53619000	
MONDO:0006998	biolink:Disease	tonsil cancer	A primary or metastatic malignant neoplasm that affects the tonsil.	MESH:D014067|ICD10CM:C09|EFO:1001214|UMLS:C0751560|SCTID:363393007|MedDRA:10044002|ICD9:146.0|NCIT:C7404|DOID:8858	mondo.json	malignant tonsillar neoplasm|malignant neoplasm of faucial tonsil|malignant tumor of tonsil|malignant tumor of the tonsil|tonsil cancer|malignant tonsillar tumor|malignant neoplasm of tonsil, faucial|malignant neoplasm of tonsil|malignant tonsil neoplasm|malignant neoplasm of the tonsil|malignant tonsil tumor|malignant neoplasm of palatine tonsil|cancer of tonsil	http://purl.obolibrary.org/obo/MONDO_0006998	DOID:8858|http://identifiers.org/mesh/D014067|http://identifiers.org/snomedct/363393007|http://purl.bioontology.org/ontology/ICD10CM/C09|UMLS:C0751560|NCIT:C7404	
MONDO:0004334	biolink:Disease	non-functional pancreatic neuroendocrine tumor	A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome.	EFO:1000398|Orphanet:506075|MESH:C536126|ICDO:8150/3|NCIT:C45837|DOID:7698|UMLS:C1334977|GARD:0004002	mondo.json	non-syndromic pancreatic neuroendocrine tumor|non functioning pancreatic endocrine tumor|non-functioning pancreatic endocrine tumor|inactive pancreatic endocrine tumor|non-syndromic pancreatic NET|non-functioning well differentiated pancreatic endocrine tumor|nonfunctional pancreatic NET|non-functioning well-differentiated NEN of pancreas|non-functioning neuroendocrine tumor of pancreas|non-functioning endocrine pancreatic tumors|nonsyndromic pancreatic endocrine tumor|non-functioning pancreatic NET|non-functioning well-differentiated neuroendocrine neoplasm of pancreas|non-functioning PNET|non-functional pancreatic neuroendocrine tumor|non-functioning well-differentiated pancreatic NEN|non-functioning EPTs|non-functioning well-differentiated pancreatic neuroendocrine neoplasm|non-functioning pancreatic neuroendocrine tumor|nonsyndromic pancreatic neuroendocrine tumor|nonfunctional pancreatic neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0004334	DOID:7698|UMLS:C1334977|http://identifiers.org/mesh/C536126|NCIT:C45837|Orphanet:506075	ordo_disease|gard_rare
MONDO:0006999	biolink:Disease	tooth disorder	A disease involving the calcareous tooth.	MESH:D014076|EFO:1001216|UMLS:C0040435|SCTID:234947003|DOID:1091|NCIT:C35077	mondo.json	disease of calcareous tooth|disease or disorder of calcareous tooth|calcareous tooth disease|dental disorder|tooth disorder|calcareous tooth disease or disorder|disorder of calcareous tooth	http://purl.obolibrary.org/obo/MONDO_0006999	http://identifiers.org/mesh/D014076|NCIT:C35077|http://identifiers.org/snomedct/234947003|UMLS:C0040435|DOID:1091	
MONDO:0004337	biolink:Disease	perianal skin Paget disease	Paget disease involving the perianal skin.	NCIT:C7476|DOID:7708|UMLS:C1332270	mondo.json	Paget disease of the anal margin|perianal skin Paget disease|perianal skin Paget's disease|anal margin Paget's disease|perianal skin mammary Paget's disease|Paget's disease of the anal margin	http://purl.obolibrary.org/obo/MONDO_0004337	DOID:7708|UMLS:C1332270|NCIT:C7476	
MONDO:0006996	biolink:Disease	thyroid crisis	Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone.	ICD9:242.81|DOID:12837|ICD9:242.91|SCTID:29028009|UMLS:C0040127|NCIT:C112836|MESH:D013958|EFO:1001212|MedDRA:10043705|HP:0011782	mondo.json	thyroid storm|thyroid crisis|thyroid crisis (disease)|thyrotoxic crisis	http://purl.obolibrary.org/obo/MONDO_0006996	NCIT:C112836|http://identifiers.org/snomedct/29028009|http://identifiers.org/mesh/D013958|UMLS:C0040127|DOID:12837	
MONDO:0006997	biolink:Disease	tibial neuropathy	Disease of the tibial nerve (also referred to as the posterior tibial nerve). The most commonly associated condition is the tarsal tunnel syndrome. However, leg injuries; ischemia; and inflammatory conditions (e.g., collagen diseases) may also affect the nerve. Clinical features include paralysis of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)	DOID:1187|EFO:1001213|SCTID:399076001|UMLS:C0751932|MESH:D020429	mondo.json	Posterior tibial neuropathy|tibial neuropathy (disorder) [ambiguous]	http://purl.obolibrary.org/obo/MONDO_0006997	http://identifiers.org/mesh/D020429|http://identifiers.org/snomedct/399076001|UMLS:C0751932|DOID:1187	
MONDO:0004336	biolink:Disease	rectal signet ring cell adenocarcinoma	An infiltrating adenocarcinoma arising from the rectum. It is characterized by the presence of malignant glandular cells with prominent intracytoplasmic mucin. These cells constitute more than 50% of the malignant cellular population.	NCIT:C9168|DOID:7707|UMLS:C0279654	mondo.json	signet Ring cell adenocarcinoma of rectum|rectum signet ring cell carcinoma|signet Ring cell adenocarcinoma of the rectum|rectum signet ring adenocarcinoma|signet Ring adenocarcinoma of rectum|rectal signet Ring cell adenocarcinoma|signet Ring adenocarcinoma of the rectum	http://purl.obolibrary.org/obo/MONDO_0004336	DOID:7707|UMLS:C0279654|NCIT:C9168	
MONDO:0004331	biolink:Disease	bladder urachal adenocarcinoma	A adenocarcinoma that involves the urachus.	DOID:7694|ONCOTREE:UA|UMLS:C1511204|NCIT:C39843|GARD:0010186|MESH:C536474	mondo.json	urachal adenocarcinoma|bladder urachal adenocarcinoma|adenocarcinoma of the urachus|urachus adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004331	NCIT:C39843|DOID:7694|http://identifiers.org/mesh/C536474|UMLS:C1511204	gard_rare
MONDO:0006994	biolink:Disease	tarsal tunnel syndrome	Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome.	MedDRA:10043121|ICD9:355.5|UMLS:C0039319|ICD10CM:G57.5|MESH:D013641|NCIT:C85183|GARD:0007733|SCTID:47374004|DOID:12526|EFO:1001208	mondo.json	posterior tibial nerve neuralgia|neuropathy of the posterior tibial nerve and its branches	http://purl.obolibrary.org/obo/MONDO_0006994	UMLS:C0039319|http://purl.bioontology.org/ontology/ICD10CM/G57.5|http://identifiers.org/mesh/D013641|DOID:12526|NCIT:C85183|http://identifiers.org/snomedct/47374004	gard_rare
MONDO:0004330	biolink:Disease	leptomeningeal sarcoma	A sarcoma arising from the leptomeninges.	NCIT:C8312|DOID:7689|UMLS:C1384416	mondo.json	leptomeninx sarcoma|leptomeningeal sarcoma|sarcoma, leptomeningeal, malignant|sarcoma of the leptomeninges|sarcoma of leptomeninges|sarcoma, meningeal|leptomeninges sarcoma|sarcoma of leptomeninx	http://purl.obolibrary.org/obo/MONDO_0004330	DOID:7689|NCIT:C8312|UMLS:C1384416	
MONDO:0043982	biolink:Disease	cubital tunnel syndrome	Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)	SCTID:56177003|MESH:D020430|EFO:1001363	mondo.json	syndrome, cubital tunnel|cubital tunnel syndromes|ulnar nerve compression, cubital tunnel|ulnar nerve entrapment, elbow|cubital tunnel syndrome|tunnel syndrome, cubital|tunnel syndromes, cubital|syndromes, cubital tunnel	http://purl.obolibrary.org/obo/MONDO_0043982	http://identifiers.org/snomedct/56177003|http://identifiers.org/mesh/D020430	
MONDO:0006995	biolink:Disease	tethered spinal cord syndrome	A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence.	ICD9:741|DOID:1089|SCTID:249491000119100|SCTID:67531005|ICD9:756.19|EFO:1001210|NCIT:C101214|NCIT:C99080|MESH:D016135	mondo.json	spinal cord syndrome|tethered cord	http://purl.obolibrary.org/obo/MONDO_0006995	http://identifiers.org/snomedct/249491000119100|NCIT:C99080|DOID:1089	
MONDO:0006992	biolink:Disease	syphilitic aortitis	Cardiovascular manifestations of syphilis, an infection of treponema pallidum. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the aorta and the aortic valve. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic aneurysm.	EFO:1001206|UMLS:C0003511|MedDRA:10042900|ICD9:093.1|ICD10CM:A52.02|SCTID:20735004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006992	UMLS:C0003511|http://purl.bioontology.org/ontology/ICD10CM/A52.02|http://identifiers.org/snomedct/20735004	
MONDO:0004333	biolink:Disease	pancreatic ACTH-producing neuroendocrine tumor	A malignant, ectopic ACTH secreting pancreatic neuroendocrine tumor, associated with Cushing's syndrome. The prognosis is usually poor.	NCIT:C27466|UMLS:C1335300|ICDO:8158/1|DOID:7697	mondo.json	pancreatic ACTH producing tumor|pancreatic ACTH producing NET|pancreatic adrenocorticotropic hormone producing tumor|pancreatic ACTH producing neuroendocrine tumor|pancreatic ACTH-producing neuroendocrine tumor|pancreatic ACTH hormone producing tumor	http://purl.obolibrary.org/obo/MONDO_0004333	UMLS:C1335300|DOID:7697|NCIT:C27466	
MONDO:0043985	biolink:Disease	central nervous system lupus	Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features.	EFO:1001453|NCIT:C116919|MESH:D020945	mondo.json	CNS lupus|central nervous system systemic lupus Erythematosis|central nervous system lupus|Meningoencephalitides, lupus|neuropsychiatric systemic lupus erythematosus|meningoencephalitis, lupus|lupus meningoencephalitis|central nervous system lupus vasculitis|lupus Meningoencephalitides|systemic lupus Erythematosis, central nervous system	http://purl.obolibrary.org/obo/MONDO_0043985	http://identifiers.org/mesh/D020945|NCIT:C116919	
MONDO:0004332	biolink:Disease	lung hilum cancer	A malignant neoplasm involving the lung hilus.	NCIT:C4566|UMLS:C2607931|UMLS:C0346601|SCTID:93827000|DOID:7696	mondo.json	malignant hilar lung neoplasm|primary malignant neoplasm of hilus of lung|malignant neoplasm of lung hilus|malignant lung hilus neoplasm|malignant tumor of the lung hilum|malignant hilar lung tumor|malignant neoplasm of lung hilum|malignant tumor of lung hilum|cancer of lung hilus|malignant lung hilum tumor|malignant neoplasm of the lung hilum|malignant lung hilum neoplasm|lung hilus cancer	http://purl.obolibrary.org/obo/MONDO_0004332	http://identifiers.org/snomedct/93827000|NCIT:C4566|DOID:7696|UMLS:C0346601|UMLS:C2607931	
MONDO:0006993	biolink:Disease	systolic heart failure	Heart failure caused by abnormal myocardial contraction during systole leading to defective cardiac emptying.	EFO:1001207|UMLS:C1135191|ICD9:428.2|DOID:9651|SCTID:417996009|MedDRA:10074631|ICD9:428.20|MESH:D054143	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006993	UMLS:C1135191|http://identifiers.org/mesh/D054143|http://identifiers.org/snomedct/417996009|DOID:9651	
MONDO:0006990	biolink:Disease	suppurative uveitis	Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia.	MESH:D015829|EFO:1001203|UMLS:C0042168|DOID:13140	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006990	http://identifiers.org/mesh/D015829|UMLS:C0042168|DOID:13140	
MONDO:0006991	biolink:Disease	obsolete sympathetic ophthalmia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006991		
MONDO:0016328	biolink:Disease	obsolete fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy		UMLS:CN226902|Orphanet:217591	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016328	Orphanet:217591|UMLS:CN226902	ordo_group_of_disorders
MONDO:0016329	biolink:Disease	obsolete familial syndrome associated with hypertrophic cardiomyopathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016329		
MONDO:0016324	biolink:Disease	obsolete hypertrophic cardiomyopathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016324		
MONDO:0018987	biolink:Disease	granulomatous mastitis	A rare, benign, inflammatory breast disease occurring in premenopausal women shortly after a recent pregnancy. The origin is unknown but it is commonly mistaken for malignancy and sometimes associated with breast feeding and the use of oral contraceptives.	GARD:0013119|Orphanet:64722|UMLS:C0405469|MESH:D058890|SCTID:237444008	mondo.json	granulomatous lobular mastitis|idiopathic granulomatous lobular mastitis|idiopathic granulomatous mastitis	http://purl.obolibrary.org/obo/MONDO_0018987	Orphanet:64722|http://identifiers.org/mesh/D058890|UMLS:C0405469|http://identifiers.org/snomedct/237444008	ordo_disease
MONDO:0043975	biolink:Disease	autonomic dysreflexia	A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)	SCTID:129618003|MESH:D020211|EFO:1001762|UMLS:C0238015	mondo.json	autonomic Hyperreflexias|dysreflexia|autonomic Dysreflexias, spinal|autonomic Dysreflexia, spinal|autonomic Dysreflexias|Dysreflexia, spinal autonomic|Dysreflexias, spinal autonomic|autonomic dysreflexia|autonomic hyperreflexia|spinal autonomic Dysreflexia|hyperreflexia, autonomic|Dysreflexias, autonomic|Dysreflexia, autonomic|hyperreflexias, autonomic|spinal autonomic Dysreflexias	http://purl.obolibrary.org/obo/MONDO_0043975	http://identifiers.org/mesh/D020211|UMLS:C0238015|http://identifiers.org/snomedct/129618003	
MONDO:0016325	biolink:Disease	obsolete glycogen storage disease with hypertrophic cardiomyopathy		Orphanet:217572|UMLS:CN201158|ICD10CM:E74.0	mondo.json	GSD with hypertrophic cardiomyopathy|glycogenosis with hypertrophic cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0016325	Orphanet:217572|UMLS:CN201158	ordo_group_of_disorders
MONDO:0018986	biolink:Disease	obsolete leiomyosarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018986		
MONDO:0018989	biolink:Disease	recurrent acute pancreatitis	Recurrent acute pancreatitis (RAP) is characterized by repeated attacks of acute pancreatitis (AP), which is defined as an acute inflammatory process of the pancreas with variable involvement of other regional tissues or remote organ systems.	MedDRA:10033657|SCTID:197458008|Orphanet:64740|UMLS:C0267937	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018989	Orphanet:64740|UMLS:C0267937|http://identifiers.org/snomedct/197458008	ordo_disease
MONDO:0016326	biolink:Disease	obsolete lysosomal disease with hypertrophic cardiomyopathy		Orphanet:217581|UMLS:CN201159	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016326	Orphanet:217581|UMLS:CN201159	ordo_group_of_disorders
MONDO:0016327	biolink:Disease	obsolete mitochondrial disease with hypertrophic cardiomyopathy		UMLS:CN201160|Orphanet:217587	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016327	Orphanet:217587|UMLS:CN201160	ordo_group_of_disorders
MONDO:0018988	biolink:Disease	iridocorneal endothelial syndrome	Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler syndrome, Cogan-Reese syndrome and essential iris atrophy, affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications	MESH:D057129|MedDRA:10053678|GARD:0000060|NCIT:C84792|SCTID:129623003|UMLS:CN205427|Orphanet:64734|UMLS:C1096100	mondo.json	ICE syndrome	http://purl.obolibrary.org/obo/MONDO_0018988	NCIT:C84792|Orphanet:64734|http://identifiers.org/mesh/D057129|http://identifiers.org/snomedct/129623003|UMLS:C1096100|UMLS:CN205427	gard_rare|ordo_disease
MONDO:0018983	biolink:Disease	Tolosa-Hunt syndrome	Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others.	NCIT:C85193|DOID:1278|UMLS:C0392060|Orphanet:64686|GARD:0007777|UMLS:CN205421|MedDRA:10051526|UMLS:C0040381|MESH:D020333|SCTID:95794005	mondo.json	nonspecific inflammation of the cavernous sinus or superior orbital fissure|THS|painful ophthalmoplegia|Tolosa Hunt syndrome|Tolosa-Hunt syndrome	http://purl.obolibrary.org/obo/MONDO_0018983	Orphanet:64686|http://identifiers.org/snomedct/95794005|UMLS:C0040381|NCIT:C85193|DOID:1278|UMLS:CN205421|UMLS:C0392060|http://identifiers.org/mesh/D020333	ordo_disease|gard_rare
MONDO:0016320	biolink:Disease	obsolete rare hereditary thrombophilia		UMLS:C2584620|Orphanet:217454	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016320	UMLS:C2584620|Orphanet:217454	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0016321	biolink:Disease	pulmonary interstitial glycogenosis	Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD).	SCTID:707551007|ICD10CM:J84.842|UMLS:C3161106|Orphanet:217557	mondo.json	infantile cellular interstitial pneumonitis|pig	http://purl.obolibrary.org/obo/MONDO_0016321	http://identifiers.org/snomedct/707551007|http://purl.bioontology.org/ontology/ICD10CM/J84.842|UMLS:C3161106|Orphanet:217557	ordo_disease
MONDO:0018982	biolink:Disease	Niemann-Pick disease type C	NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.	SCTID:66751000|Orphanet:646|MESH:D052556	mondo.json	NPC	http://purl.obolibrary.org/obo/MONDO_0018982	Orphanet:646|http://identifiers.org/snomedct/66751000|http://identifiers.org/mesh/D052556	ordo_disease
MONDO:0016322	biolink:Disease	neuroendocrine cell hyperplasia of infancy	Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD) characterized by tachypnea without respiratory failure.	NCIT:C120169|Orphanet:217560|ICD10CM:J84.841|UMLS:C3161105|SCTID:707435002	mondo.json	chronic tachypnoe of infancy|NEHI|CTI|NCHI	http://purl.obolibrary.org/obo/MONDO_0016322	Orphanet:217560|NCIT:C120169|http://identifiers.org/snomedct/707435002|UMLS:C3161105|http://purl.bioontology.org/ontology/ICD10CM/J84.841	ordo_disease
NCBITaxon:33511	biolink:OrganismalEntity	Deuterostomia		GC_ID:1	mondo.json	deuterostomes	http://purl.obolibrary.org/obo/NCBITaxon_33511		
MONDO:0018985	biolink:Disease	obsolete trench fever			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018985		
MONDO:0016323	biolink:Disease	chronic respiratory distress with surfactant metabolism deficiency		OMIM:610913|Orphanet:217566	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016323	Orphanet:217566	ordo_disease
MONDO:0018984	biolink:Disease	Oroya fever	An infection that is caused by Bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (Oroya fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/Peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise.	SCTID:262461007|UMLS:C0029307|DOID:0050398|UMLS:CN205422|SCTID:240453002|NCIT:C128441|Orphanet:64692	mondo.json	Oroya fever|Bartonella bacilliformis disease or disorder|Bartonella bacilliformis infectious disease|Bartonella bacilliformis caused disease or disorder|Carrion's disease|bartonellosis due to Bartonella bacilliformis infection|Carrión disease|Carrion disease	http://purl.obolibrary.org/obo/MONDO_0018984	http://identifiers.org/snomedct/240453002|Orphanet:64692|http://identifiers.org/snomedct/262461007|NCIT:C128441|DOID:0050398|UMLS:CN205422|UMLS:C0029307	ordo_disease
MONDO:0018981	biolink:Disease	benign idiopathic neonatal seizures	A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable.	UMLS:CN205419|Orphanet:64545	mondo.json	BINS|benign nonfamilial neonatal seizures	http://purl.obolibrary.org/obo/MONDO_0018981	UMLS:CN205419|Orphanet:64545	ordo_disease
MONDO:0018980	biolink:Disease	acrofacial dysostosis, Kennedy-Teebi type	Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.	SCTID:720427009|UMLS:CN205418|Orphanet:64542	mondo.json	Kennedy-Teebi syndrome	http://purl.obolibrary.org/obo/MONDO_0018980	UMLS:CN205418|Orphanet:64542|http://identifiers.org/snomedct/720427009	ordo_malformation_syndrome
MONDO:0004349	biolink:Disease	retina lymphoma	A lymphoma that involves the retina.	DOID:774|SCTID:232075002|ICD9:198.4|NCIT:C4365|UMLS:C0339556	mondo.json	lymphoma of retina|lymphoma of the retina|retina lymphoma|primary retinal lymphoma|retinal lymphoma	http://purl.obolibrary.org/obo/MONDO_0004349	NCIT:C4365|DOID:774|UMLS:C0339556|http://identifiers.org/snomedct/232075002	
HGNC:26006	biolink:NamedThing	TTC19			mondo.json		http://identifiers.org/hgnc/26006		
MONDO:0004346	biolink:Disease	signet ring cell intrahepatic cholangiocarcinoma	An intrahepatic cholangiocarcinoma characterized by the presence of signet ring adenocarcinoma cells.	UMLS:C1519321|DOID:7733|NCIT:C41619	mondo.json	signet Ring cell intrahepatic cholangiocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004346	NCIT:C41619|DOID:7733|UMLS:C1519321	
MONDO:0004345	biolink:Disease	childhood malignant schwannoma	A malignant peripheral nerve sheath tumor occurring in children.	UMLS:C0279987|DOID:7732|NCIT:C8094	mondo.json	malignant peripheral nerve sheath tumor|childhood malignant tumor of the peripheral nerve sheath|childhood malignant peripheral nerve sheath neoplasm|childhood malignant tumor of peripheral nerve sheath|childhood malignant neurilemmoma|pediatric malignant neoplasm of the peripheral nerve sheath|pediatric malignant neoplasm of peripheral nerve sheath|pediatric malignant peripheral nerve sheath tumor|childhood neurofibrosarcoma|childhood neurogenic sarcoma|childhood malignant schwannoma|pediatric malignant peripheral nerve sheath neoplasm|pediatric malignant tumor of the peripheral nerve sheath|pediatric malignant tumor of peripheral nerve sheath|childhood malignant neoplasm of the peripheral nerve sheath|pediatric MPNST|pediatric malignant neurilemmoma|childhood malignant neoplasm of peripheral nerve sheath|childhood malignant peripheral nerve sheath tumor|childhood MPNST|pediatric malignant schwannoma	http://purl.obolibrary.org/obo/MONDO_0004345	DOID:7732|NCIT:C8094|UMLS:C0279987	
MONDO:0004348	biolink:Disease	retinal telangiectasia		SCTID:84884003|HP:0007763|UMLS:C0154835|DOID:7736|ICD9:362.15	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004348	http://identifiers.org/snomedct/84884003|UMLS:C0154835|DOID:7736	
MONDO:0004347	biolink:Disease	obsolete MONDO:0004347			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004347		
MONDO:0043994	biolink:Disease	acute cholecystitis	Acute inflammation of the gallbladder.	MESH:D041881|SCTID:65275009|NCIT:C35152	mondo.json	acute cholecystitis	http://purl.obolibrary.org/obo/MONDO_0043994	NCIT:C35152|http://identifiers.org/mesh/D041881|http://identifiers.org/snomedct/65275009	
MONDO:0004342	biolink:Disease	obsolete osteoclast-like giant cell neoplasm of the pancreas			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004342		
MONDO:0004341	biolink:Disease	colloid carcinoma of the pancreas	An infiltrating pancreatic ductal adenocarcinoma, characterized by the presence of malignant cells floating in pools of mucin. It has a more favorable prognosis than the conventional infiltrating ductal adenocarcinoma. It often arises in association with intraductal pancreatic mucinous neoplasms and in some cases it may result in the development of pseudomyxoma peritonei.	DOID:7717|NCIT:C37214|UMLS:C1333081	mondo.json	mucinous Noncystic carcinoma|pancreatic mucinous Noncystic carcinoma|colloid carcinoma of the pancreas	http://purl.obolibrary.org/obo/MONDO_0004341	UMLS:C1333081|DOID:7717|NCIT:C37214	
MONDO:0004344	biolink:Disease	childhood malignant hemangiopericytoma	A malignant hemangiopericytoma occurring in childhood.	NCIT:C8090|UMLS:C0279983|DOID:7731	mondo.json	malignant childhood hemangiopericytoma|malignant hemangiopericytoma|malignant pediatric hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0004344	DOID:7731|NCIT:C8090|UMLS:C0279983	
MONDO:0004343	biolink:Disease	pancreatic acinar cell cystadenocarcinoma	A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course.	DOID:7729|NCIT:C5727|ICDO:8551/3|UMLS:C1266087	mondo.json	acinar cell cystadenocarcinoma (morphologic abnormality)|acinar cell cystadenocarcinoma|acinar cell cystadenocarcinoma of pancreas|acinar cell cystadenocarcinoma of the pancreas|pancreatic acinar cell cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004343	DOID:7729|UMLS:C1266087|NCIT:C5727	
MONDO:0004340	biolink:Disease	mixed ductal-endocrine carcinoma of pancreas	A carcinoma that arises from the pancreas showing a mixture of ductal and neuroendocrine malignant cells in both the primary tumor and in the metastatic sites.	UMLS:C1301048|DOID:7716|NCIT:C6879	mondo.json	mixed ductal-endocrine carcinoma|mixed ductal-neuroendocrine carcinoma of the pancreas|mixed ductal-endocrine carcinoma of the pancreas	http://purl.obolibrary.org/obo/MONDO_0004340	DOID:7716|UMLS:C1301048|NCIT:C6879	
MONDO:0016317	biolink:Disease	limbic encephalitis with NMDA receptor antibodies	Limbic encephalitis with anti-N-methyl-D-aspartate (NMDA) receptor antibodies is a recently described type of encephalitis affecting young women with teratoma of ovary and associated with antibodies that react with neuronal cell surface auto-antigens.	UMLS:C4274344|Orphanet:217253|UMLS:CN201135|SCTID:716684004	mondo.json	limbic encephalitis with N-methyl-D-aspartate receptor antibodies	http://purl.obolibrary.org/obo/MONDO_0016317	Orphanet:217253|UMLS:C4274344|http://identifiers.org/snomedct/716684004|UMLS:CN201135	ordo_disease
MONDO:0016318	biolink:Disease	progressive multifocal leukoencephalopathy	Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but itrarelycauses symptoms unless the immune system becomes severely weakened.The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS).	DOID:643|EFO:0007455|UMLS:C0023524|SCTID:22255007|GARD:0007468|MedDRA:10036807|NCIT:C26815|MESH:D007968|ICD9:046.3|Orphanet:217260|ICD10CM:A81.2	mondo.json	PML|leukoencephalopathy, progressive multifocal|progressive multifocal leukoencephalitis	http://purl.obolibrary.org/obo/MONDO_0016318	UMLS:C0023524|http://identifiers.org/mesh/D007968|http://identifiers.org/snomedct/22255007|Orphanet:217260|http://purl.bioontology.org/ontology/ICD10CM/A81.2|NCIT:C26815|DOID:643	gard_rare|ordo_disease
MONDO:0018979	biolink:Disease	multifocal motor neuropathy	Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping.	ICD9:357.89|Orphanet:641|ICD10CM:G61.82|SCTID:230591002|UMLS:C0393847|GARD:0011011	mondo.json	MMN|MMNCB|multifocal motor neuropathy with conduction block	http://purl.obolibrary.org/obo/MONDO_0018979	http://purl.bioontology.org/ontology/ICD10CM/G61.82|UMLS:C0393847|Orphanet:641|http://identifiers.org/snomedct/230591002	ordo_disease|gard_rare
MONDO:0016319	biolink:Disease	congenital insensitivity to pain with hyperhidrosis		Orphanet:217399	mondo.json	congenital analgesia with hyperhidrosis|congenital indifference to pain with hyperhidrosis|congenital absence of pain with hyperhidrosis	http://purl.obolibrary.org/obo/MONDO_0016319	Orphanet:217399	ordo_disease
MONDO:0018976	biolink:Disease	schisis association	The combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates.	UMLS:C2931271|SCTID:718095000|GARD:0000246|MESH:C536633|Orphanet:63862	mondo.json	Midline development field defects	http://purl.obolibrary.org/obo/MONDO_0018976	UMLS:C2931271|http://identifiers.org/snomedct/718095000|Orphanet:63862|http://identifiers.org/mesh/C536633	gard_rare|ordo_malformation_syndrome
MONDO:0016313	biolink:Disease	obsolete renal cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016313		
MONDO:0016314	biolink:Disease	obsolete rare carcinoma of pancreas	OBSOLETE. Rare pancreatic carcinoma.	MedDRA:10033604|Orphanet:217074|UMLS:CN201130|MedDRA:10033609	mondo.json	rare exocrine pancreatic carcinoma|rare pancreatic carcinoma	http://purl.obolibrary.org/obo/MONDO_0016314	Orphanet:217074|UMLS:CN201130	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0018975	biolink:Disease	neurofibromatosis type 1	A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.	SCTID:92824003|DOID:0111253|Orphanet:636|MESH:C538607|UMLS:C0027831|OMIM:162200|MedDRA:10047712|NCIT:C3273|ICD9:237.71|MESH:D009456|GARD:0007866|DECIPHER:15	mondo.json	neurofibromatosis, type 1|von Reklinghausen disease|peripheral neurofibromatosis|Recklinghausen's disease|Nf1-Microdeletion syndrome|type 1 neurofibromatosis|NF1|neurofibromatosis|Von Recklinghausen disease|neurofibromatosis, type I|neurofibromatosis, peripheral type|neurofibromatosis type 1|neurofibromatosis 1|neurofibromatosis type 1 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0018975	NCIT:C3273|UMLS:C0027831|http://identifiers.org/snomedct/92824003|http://identifiers.org/mesh/D009456|Orphanet:636|DOID:0111253|https://omim.org/entry/162200	ordo_disease
MONDO:0016315	biolink:Disease	mucopolysaccharidosis type 2, severe form	Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.	SCTID:73146005|Orphanet:217085|UMLS:CN201131	mondo.json	Hunter syndrome type A|mucopolysaccharidosis type 2, severe form|mucopolysaccharidosis type 2A|MPSIIA|MPS2A|mucopolysaccharidosis type IIA|iduronate 2-sulfatase deficiency type A|mucopolysaccharidosis type II, severe form	http://purl.obolibrary.org/obo/MONDO_0016315	Orphanet:217085|UMLS:CN201131|http://identifiers.org/snomedct/73146005	ordo_clinical_subtype
MONDO:0018978	biolink:Disease	IgG4-related mediastinitis		GARD:0008337|MedDRA:10027074|Orphanet:63999|MESH:C536136	mondo.json	idiopathic mediastinal fibrosis|mediastinal fibrosis|fibrosing mediastinitis|sclerosing mediastinitis	http://purl.obolibrary.org/obo/MONDO_0018978	Orphanet:63999|http://identifiers.org/mesh/C536136	ordo_disease
MONDO:0018977	biolink:Disease	polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG	Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait.	Orphanet:639|UMLS:C1736154	mondo.json	anti-MAG neuropathy|neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein	http://purl.obolibrary.org/obo/MONDO_0018977	UMLS:C1736154|Orphanet:639	ordo_disease
MONDO:0016316	biolink:Disease	mucopolysaccharidosis type 2, attenuated form	Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline.	Orphanet:217093|UMLS:CN201132	mondo.json	mucopolysaccharidosis type 2, attenuated form|Hunter syndrome type B|mucopolysaccharidosis type 2B|mucopolysaccharidosis type II, attenuated form|mucopolysaccharidosis type IIB|iduronate 2-sulfatase deficiency type B|MPSIIB|MPS2B	http://purl.obolibrary.org/obo/MONDO_0016316	Orphanet:217093|UMLS:CN201132	ordo_clinical_subtype
MONDO:0043988	biolink:Disease	zoster sine herpete	Herpes zoster but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult.	EFO:1001827|SCTID:449783002|MESH:D031368|UMLS:C1135841	mondo.json	zoster sine herpete|Zoster sine Eruptione	http://purl.obolibrary.org/obo/MONDO_0043988	http://identifiers.org/snomedct/449783002|http://identifiers.org/mesh/D031368|UMLS:C1135841	
MONDO:0018972	biolink:Disease	obsolete rare epithelial tumor of stomach		Orphanet:63443|UMLS:CN235187	mondo.json	rare gastric epithelial tumor	http://purl.obolibrary.org/obo/MONDO_0018972	Orphanet:63443|UMLS:CN235187	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0016310	biolink:Disease	Niemann-Pick disease type C, adult neurologic onset		UMLS:CN201116|Orphanet:216986	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016310	UMLS:CN201116|Orphanet:216986	ordo_clinical_subtype
MONDO:0018971	biolink:Disease	isolated oxycephaly	Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull.	Orphanet:63440|SCTID:48069004	mondo.json	acrocephaly|pyrgocephaly|hypsicephaly|turricephaly|hypsocephaly	http://purl.obolibrary.org/obo/MONDO_0018971	Orphanet:63440|http://identifiers.org/snomedct/48069004	ordo_morphological_anomaly
HGNC:14024	biolink:NamedThing	PRY			mondo.json		http://identifiers.org/hgnc/14024		
HGNC:14025	biolink:NamedThing	SLC5A7			mondo.json		http://identifiers.org/hgnc/14025		
MONDO:0018974	biolink:Disease	paraneoplastic pemphigus	Pemphigus is a group of chronic autoimmune skin diseases characterised by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which paraneoplastic pemphigus is extremely rare.	UMLS:C1112570|Orphanet:63455|EFO:0008602|MedDRA:10057056|ICD10CM:L10.81	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018974	UMLS:C1112570|Orphanet:63455|http://purl.bioontology.org/ontology/ICD10CM/L10.81	ordo_disease
MONDO:0016311	biolink:Disease	Bockenheimer syndrome		GARD:0013063|UMLS:CN201119|Orphanet:217008	mondo.json	genuine diffuse phlebectasia	http://purl.obolibrary.org/obo/MONDO_0016311	UMLS:CN201119|Orphanet:217008	ordo_malformation_syndrome
MONDO:0018973	biolink:Disease	patterned dystrophy of the retinal pigment epithelium		MESH:C536309|UMLS:C1868569|ICD10CM:H35.5|Orphanet:63454|GARD:0009821	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018973	Orphanet:63454|http://identifiers.org/mesh/C536309|UMLS:C1868569	ordo_group_of_disorders|disease_grouping
MONDO:0016312	biolink:Disease	5-fluorouracil poisoning	5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men.	UMLS:CN201128|MESH:C531667|Orphanet:217064	mondo.json	5-fluorouracil intoxication	http://purl.obolibrary.org/obo/MONDO_0016312	http://identifiers.org/mesh/C531667|UMLS:CN201128|Orphanet:217064	ordo_clinical_situation
MONDO:0018970	biolink:Disease	obsolete pemphigoid gestationis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018970		
MONDO:0016380	biolink:Disease	acquired hypertrichosis lanuginosa	Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary.	Orphanet:2221|UMLS:CN201274|SCTID:25967007|ICD10CM:L68.1|GARD:0002864	mondo.json	hypertrichosis lanuginosa, acquired	http://purl.obolibrary.org/obo/MONDO_0016380	http://purl.bioontology.org/ontology/ICD10CM/L68.1|http://identifiers.org/snomedct/25967007|Orphanet:2221|UMLS:CN201274	ordo_disease|gard_rare
MONDO:0016381	biolink:Disease	hypertrichosis lanuginosa congenita	Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.	OMIM:145700|SCTID:201163007|MESH:C538389|GARD:0002865|Orphanet:2222	mondo.json	hypertrichosis universalis|hypertrichosis lanuginosa congenita|hypertrichosis lanuginosa universalis|congenital hypertrichosis lanuginosa	http://purl.obolibrary.org/obo/MONDO_0016381	https://omim.org/entry/145700|http://identifiers.org/snomedct/201163007|Orphanet:2222|http://identifiers.org/mesh/C538389	ordo_disease
HGNC:28636	biolink:NamedThing	B9D2			mondo.json		http://identifiers.org/hgnc/28636		
MONDO:0004397	biolink:Disease	benign mediastinal psammomatous neurilemmoma	A schwannoma that arises from the posterior mediastinum. It is characterized by the presence of psammoma bodies.	DOID:7921|UMLS:C1332513|NCIT:C6636	mondo.json	benign psammomatous schwannoma of the mediastinum|benign psammomatous schwannoma of mediastinum|benign psammomatous neurilemmoma of the mediastinum|benign mediastinal psammomatous schwannoma|benign psammomatous neurilemmoma of mediastinum	http://purl.obolibrary.org/obo/MONDO_0004397	NCIT:C6636|DOID:7921|UMLS:C1332513	
MONDO:0004396	biolink:Disease	cervical spinal canal and spinal cord meningioma	A meningioma that arises from the meninges of the cervical region of the spinal cord.	UMLS:C1332916|NCIT:C5296|DOID:7915	mondo.json	cervical intraspinal meningioma|meningioma of the cervical spinal canal and spinal cord|meningioma of cervical spinal canal and spinal cord	http://purl.obolibrary.org/obo/MONDO_0004396	NCIT:C5296|DOID:7915|UMLS:C1332916	
MONDO:0004399	biolink:Disease	obsolete epithelial malignant thymoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004399		
MONDO:0004398	biolink:Disease	mediastinal schwannoma	A schwannoma that arises from the posterior mediastinum. It is the most common neurogenic tumor of the mediastinum. Excision is usually curative.	DOID:7922|NCIT:C6643|UMLS:C1334679|DOID:6175	mondo.json	neurilemmoma of the mediastinum|neurilemmoma of mediastinum|mediastinal neurilemmoma|benign schwannoma of the mediastinum|mediastinal schwannoma|benign mediastinal neurilemmoma|benign neurilemmoma of the mediastinum|benign schwannoma of mediastinum|schwannoma of the mediastinum|benign neurilemmoma of mediastinum|mediastinum schwannoma|schwannoma of mediastinum|benign mediastinal schwannoma	http://purl.obolibrary.org/obo/MONDO_0004398	NCIT:C6643|UMLS:C1334679|DOID:6175|DOID:7922	
MONDO:0004393	biolink:Disease	mixed astrocytoma-ependymoma	A tumor of mixed cell type with astrocytic components as well as ependymoma components.	DOID:7907|NCIT:C8271|UMLS:C0280791	mondo.json	mixed astrocytoma-ependymoma	http://purl.obolibrary.org/obo/MONDO_0004393	UMLS:C0280791|DOID:7907|NCIT:C8271	
MONDO:0004392	biolink:Disease	intracranial extraskeletal myxoid chondrosarcoma	An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium.	NCIT:C5462|DOID:7903|UMLS:C1334238	mondo.json	intracranial extraskeletal myxoid chondrosarcoma|intracranial chondrosarcoma	http://purl.obolibrary.org/obo/MONDO_0004392	NCIT:C5462|UMLS:C1334238|DOID:7903	
MONDO:0004395	biolink:Disease	obsolete mixed oligodendroglioma-astrocytoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004395		
MONDO:0004394	biolink:Disease	maxillary sinus squamous cell carcinoma	A squamous cell carcinoma that arises from the mucosal epithelial surface of the maxillary sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.	SCTID:707354003|UMLS:C1334647|NCIT:C6064|DOID:7910	mondo.json	squamous cell carcinoma of the maxillofacial sinus|squamous cell carcinoma of maxillofacial sinus|squamous cell carcinoma of the maxillary sinus|squamous cell carcinoma of maxillary sinus|epidermoid carcinoma of maxillary antrum|maxillary antrum squamous cell carcinoma|epidermoid carcinoma of the maxillary antrum|maxillary sinus epidermoid carcinoma|epidermoid carcinoma of maxillofacial sinus|maxillofacial sinus squamous cell carcinoma|maxillofacial sinus epidermoid carcinoma|epidermoid carcinoma of the maxillofacial sinus|maxillary sinus squamous cell carcinoma|epidermoid carcinoma of the maxillary sinus|epidermoid carcinoma of maxillary sinus|squamous cell carcinoma of maxillary antrum|maxillary antrum epidermoid carcinoma|squamous cell carcinoma of the maxillary antrum	http://purl.obolibrary.org/obo/MONDO_0004394	NCIT:C6064|http://identifiers.org/snomedct/707354003|UMLS:C1334647|DOID:7910	
MONDO:0004391	biolink:Disease	obsolete adult extraosseous chondrosarcoma	OBSOLETE. A extraosseous chondrosarcoma that occurs in an adult.	DOID:7902	mondo.json	extraosseous chondrosarcoma of adults	http://purl.obolibrary.org/obo/MONDO_0004391	DOID:7902	
MONDO:0004390	biolink:Disease	ocular hypotension	Abnormally low intraocular pressure often related to chronic inflammation (uveitis).	UMLS:C0028841|SCTID:19721008|ICD9:360.30|DOID:790|MESH:D015814|ICD9:360.3	mondo.json	hypotony of eye	http://purl.obolibrary.org/obo/MONDO_0004390	UMLS:C0028841|http://identifiers.org/mesh/D015814|DOID:790|http://identifiers.org/snomedct/19721008	
GO:0033280	biolink:NamedThing	response to vitamin D	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin D stimulus.		mondo.json	response to calciferol|response to cholecalciferol|response to ergocalciferol	http://purl.obolibrary.org/obo/GO_0033280		
HP:0005445	biolink:PhenotypicFeature	Enlarged posterior fossa	Abnormal increased size of the posterior cranial fossa.	UMLS:C1855889	mondo.json	Widened posterior fossa	http://purl.obolibrary.org/obo/HP_0005445		
MONDO:0016386	biolink:Disease	hypogonadotropic hypogonadism-retinitis pigmentosa syndrome	This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents.	UMLS:C2931722|MESH:C538075|Orphanet:2235	mondo.json	Chang-Davidson-Carlson syndrome	http://purl.obolibrary.org/obo/MONDO_0016386	UMLS:C2931722|http://identifiers.org/mesh/C538075|Orphanet:2235	ordo_disease
MONDO:0016387	biolink:Disease	mitochondrial oxidative phosphorylation disorder		UMLS:CN201288|Orphanet:223713	mondo.json	OXPHOS disease|OXPHOS system deficiency	http://purl.obolibrary.org/obo/MONDO_0016387	Orphanet:223713|UMLS:CN201288	ordo_group_of_disorders|disease_grouping
MONDO:0016388	biolink:Disease	obsolete bone sarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016388		
MONDO:0016389	biolink:Disease	obsolete lymphoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016389		
MONDO:0016382	biolink:Disease	hereditary poikiloderma		Orphanet:222628	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016382	Orphanet:222628	ordo_group_of_disorders|disease_grouping
MONDO:0016383	biolink:Disease	nephrogenic diabetes insipidus	Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children.	MedDRA:10029147|UMLS:C0162283|MESH:D018500|ICD9:588.1|ICD10CM:N25.1|Orphanet:223|GARD:0007178|DOID:12387|SCTID:111395007|NCIT:C84919	mondo.json	diabetes insipidus nephrogenic type 1|vasopressin-resistant diabetes insipidus|ADH resistant diabetes insipidus|diabetes insipidus nephrogenic|diabetes insipidus nephrogenic X-linked	http://purl.obolibrary.org/obo/MONDO_0016383	DOID:12387|http://purl.bioontology.org/ontology/ICD10CM/N25.1|http://identifiers.org/mesh/D018500|NCIT:C84919|http://identifiers.org/snomedct/111395007|UMLS:C0162283|Orphanet:223	ordo_disease
MONDO:0016384	biolink:Disease	hypogonadotropic hypogonadism-frontoparietal alopecia syndrome	This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.	Orphanet:2230|ICD10CM:E23.0|SCTID:721842008|UMLS:CN201280	mondo.json	Salti-Salem syndrome	http://purl.obolibrary.org/obo/MONDO_0016384	http://identifiers.org/snomedct/721842008|Orphanet:2230|UMLS:CN201280	ordo_disease
MONDO:0016385	biolink:Disease	hypogonadism-mitral valve prolapse-intellectual disability syndrome	This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature.	Orphanet:2233|GARD:0001078|MESH:C537981|UMLS:C2931685|SCTID:721841001	mondo.json	Cantalamessa-Baldini-Ambrosi syndrome|primary gonadal failure, short stature, mitral valve prolapse, and intellectual disability|primary gonadal failure, short stature, mitral valve prolapse, and mental retardation|Cantalamessa Baldini Ambrosi syndrome	http://purl.obolibrary.org/obo/MONDO_0016385	http://identifiers.org/snomedct/721841001|UMLS:C2931685|Orphanet:2233|http://identifiers.org/mesh/C537981	ordo_disease|gard_rare
HGNC:16650	biolink:NamedThing	MRPL44			mondo.json		http://identifiers.org/hgnc/16650		
MONDO:0043919	biolink:Disease	radiation pneumonitis	Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation.	EFO:0008517|MESH:D017564|SCTID:84004001	mondo.json	Pneumonias, radiation|radiation fibrosis|radiation Pneumonias|fibrosis, radiation|radiation pneumonitis|Pneumonitides, radiation|pneumonitis, radiation|pulmonary radiation alveolitis|radiation pneumonia|pneumonia, radiation|radiation Pneumonitides	http://purl.obolibrary.org/obo/MONDO_0043919	http://identifiers.org/mesh/D017564|http://identifiers.org/snomedct/84004001	
MONDO:0016370	biolink:Disease	Marchiafava-Bignami disease	Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism.	MESH:D054319|UMLS:C0238265|Orphanet:221074|GARD:0006971|MedDRA:10026828|ICD9:341.8|NCIT:C97045|SCTID:386766007|EFO:1001809	mondo.json	acute Marchiafava-Bignami disease|metabolic bone disorder|metabolic bone disease|MBD|chronic Marchiafava-Bignami syndrome|Marchiafava Bignami disease	http://purl.obolibrary.org/obo/MONDO_0016370	NCIT:C97045|Orphanet:221074|UMLS:C0238265|http://identifiers.org/snomedct/386766007|http://identifiers.org/mesh/D054319	ordo_disease|gard_rare
UBERON:3010200	biolink:AnatomicalEntity	vasculature of respiratory integument			mondo.json		http://purl.obolibrary.org/obo/UBERON_3010200		
HGNC:28648	biolink:NamedThing	DIS3L2			mondo.json		http://identifiers.org/hgnc/28648		
MONDO:0031949	biolink:Disease	obsolete genetic neurovascular malformation		Orphanet:371436	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031949	Orphanet:371436	
GO:0033273	biolink:NamedThing	response to vitamin	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0033273		
MONDO:0016379	biolink:Disease	erosive pustular dermatosis of the scalp	Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia.	SCTID:238733003|GARD:0002188|UMLS:C0406464|Orphanet:222	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016379	Orphanet:222|http://identifiers.org/snomedct/238733003|UMLS:C0406464	ordo_disease|gard_rare
MONDO:0043923	biolink:Disease	lichen planus, oral	A chronic, autoimmune inflammatory condition of the mucous membranes in the oral cavity that affects approximately two percent of the population and is most often seen in middle aged women. It is characterized by white, lacy patches; red, swollen tissue; papules and plaques; or open sores. The lesions are typically bilateral.	NCIT:C7406|SCTID:235049008|EFO:1001415|UMLS:C0206139|MESH:D017676	mondo.json	olp - oral lichen planus|oral lichen planus	http://purl.obolibrary.org/obo/MONDO_0043923	UMLS:C0206139|http://identifiers.org/snomedct/235049008|NCIT:C7406|http://identifiers.org/mesh/D017676	
MONDO:0016375	biolink:Disease	acquired peripheral movement disorder		Orphanet:221114|UMLS:CN226913	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016375	UMLS:CN226913|Orphanet:221114	disease_grouping|ordo_group_of_disorders
MONDO:0016376	biolink:Disease	confetti-like macular atrophy		Orphanet:221142	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016376	Orphanet:221142	ordo_disease
MONDO:0016377	biolink:Disease	Pitt-Hopkins-like syndrome	Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.	UMLS:CN239445|Orphanet:221150|GARD:0011967	mondo.json	PTHSL	http://purl.obolibrary.org/obo/MONDO_0016377	Orphanet:221150|UMLS:CN239445	ordo_disease|gard_rare
MONDO:0016378	biolink:Disease	maternal hyperthermia induced birth defects	Maternal hyperthermia induced birth defects is a rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached.	SCTID:765138001|UMLS:C0265377|Orphanet:2216|GARD:0002856	mondo.json	hyperthermia induced defects	http://purl.obolibrary.org/obo/MONDO_0016378	UMLS:C0265377|http://identifiers.org/snomedct/765138001|Orphanet:2216	ordo_malformation_syndrome|gard_rare
HGNC:14004	biolink:NamedThing	ANO3			mondo.json		http://identifiers.org/hgnc/14004		
MONDO:0016371	biolink:Disease	combined hyperactive dysfunction syndrome of the cranial nerves		Orphanet:221078|UMLS:CN201241	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016371	Orphanet:221078|UMLS:CN201241	ordo_disease
MONDO:0016372	biolink:Disease	glossopharyngeal neuralgia	Glossopharyngeal neuralgia is a condition characterized by repeated episodes of severe pain in the tongue, throat, ear, and tonsils (areas connected to the ninth cranial nerve, or glossopharyngeal nerve). It typically occurs in individuals over age 40. Episodes of pain may last from a few seconds to a few minutes, and usually occur on one side. The pain may be triggered by swallowing, speaking, laughing, chewing or coughing. The condition is thought to be due to irritation of the nerve, although the source of irritation is unclear. The goal of treatment is to control pain, but over-the-counter pain medications are not very effective; the most effective drugs are anti-seizure medications. Some antidepressants help certain people. Surgery to cut or take pressure off of the glossopharyngeal nerve may be needed in severe cases.	Orphanet:221098|DOID:14423|SCTID:43763009|ICD9:352.1|GARD:0006519|UMLS:C0154731|MedDRA:10018391	mondo.json	glossopharyngeal nerve neuralgia|Glossovasopharyngeal neuralgia|glossopharyngeal neuralgia|neuralgia of glossopharyngeal nerve	http://purl.obolibrary.org/obo/MONDO_0016372	Orphanet:221098|http://identifiers.org/snomedct/43763009|UMLS:C0154731|DOID:14423	gard_rare|ordo_disease
MONDO:0016373	biolink:Disease	isolated facial myokymia		ICD10CM:G51.4|Orphanet:221106	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016373	Orphanet:221106|http://purl.bioontology.org/ontology/ICD10CM/G51.4	ordo_disease
HGNC:14000	biolink:NamedThing	PRDM16			mondo.json		http://identifiers.org/hgnc/14000		
MONDO:0016374	biolink:Disease	cranial neuralgia	A neuralgia that involves the cranial neuron projection bundle.	UMLS:C0010269|Orphanet:221109|SCTID:23096007	mondo.json	facial neuralgia|neuralgia of cranial neuron projection bundle|cranial neuron projection bundle neuralgia	http://purl.obolibrary.org/obo/MONDO_0016374	UMLS:C0010269|Orphanet:221109|http://identifiers.org/snomedct/23096007	ordo_group_of_disorders|disease_grouping
MONDO:0004379	biolink:Disease	female breast carcinoma	A carcinoma that arises from the breast in females. It is the most common malignant tumor that affects females.	ICD9:174.8|ICD9:174.9|DOID:7843|DOID:0050671|UMLS:C0007104|SCTID:447782002|SCTID:372064008|NCIT:C2918	mondo.json	female breast cancer|carcinoma of female breast|mammary carcinoma of the female breast|mammary carcinoma of female breast|female breast carcinoma|breast carcinoma, female|carcinoma of the female breast	http://purl.obolibrary.org/obo/MONDO_0004379	DOID:7843|http://identifiers.org/snomedct/372064008|NCIT:C2918|UMLS:C0007104|DOID:0050671|http://identifiers.org/snomedct/447782002	
MONDO:0004378	biolink:Disease	pediatric cerebral ependymoblastoma	An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the cerebral hemispheres and occurs in children.	UMLS:C1332962|DOID:7841|NCIT:C6957	mondo.json	childhood cerebral ependymoblastoma|childhood cerebral embryonal tumor with Multilayered Rosettes, C19MC-altered	http://purl.obolibrary.org/obo/MONDO_0004378	DOID:7841|UMLS:C1332962|NCIT:C6957	
MONDO:0031952	biolink:Disease	obsolete genetic syndromic esophageal malformation		Orphanet:371445	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031952	Orphanet:371445	
MONDO:0004375	biolink:Disease	end stage renal failure	Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min.	ICD9:585.6|SCTID:46177005|DOID:783|NCIT:C9439	mondo.json	ESRD, end stage renal disease|end stage renal disease|end stage renal disease (ESRD)|disease (ESRD), end stage renal|renal disease (ESRD), end stage|renal disease, end stage|end stage kidney disease|end stage kidney failure|chronic kidney disease, stage 5|ESRD	http://purl.obolibrary.org/obo/MONDO_0004375	NCIT:C9439|DOID:783|http://identifiers.org/snomedct/46177005	
MONDO:0004374	biolink:Disease	adult extraskeletal osteosarcoma	An osteosarcoma arising from the soft tissue, and occurring in adults.	NCIT:C7925|DOID:7827|UMLS:C0278985	mondo.json	extraosseous osteosarcoma of adults|adult extraosseous osteosarcoma|adult extraskeletal osteosarcoma|extraskeletal osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0004374	UMLS:C0278985|NCIT:C7925|DOID:7827	
MONDO:0004377	biolink:Disease	pancreatic non-functioning delta cell tumor	A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It is not associated with a hormonal syndrome.	UMLS:C1335311|NCIT:C28333|DOID:7840	mondo.json	non-functional pancreatic Delta cell NET|non-functioning pancreatic Delta cell tumor|nonfunctional Pancreatic Delta cell Neuroendocrine tumor|non-functional pancreatic Delta cell neuroendocrine tumor|non-functioning pancreatic Delta cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0004377	DOID:7840|NCIT:C28333|UMLS:C1335311	
MONDO:0004376	biolink:Disease	infiltrating nipple syringomatous adenoma	An invasive, non-metastasizing neoplasm with sweat duct differentiation that arises in the area of the nipple. Local recurrences have been reported.	NCIT:C40363|UMLS:C1518329|DOID:7839	mondo.json	infiltrating nipple syringomatous adenoma|nipple syringomatous adenoma	http://purl.obolibrary.org/obo/MONDO_0004376	UMLS:C1518329|NCIT:C40363|DOID:7839	
MONDO:0004371	biolink:Disease	spinal multifocal clear cell meningioma	A clear cell meningioma arising in multiple areas of the spinal cord characterized by the presence of clear glycogen-rich polygonal cells.	NCIT:C5287|UMLS:C1336051|DOID:7824	mondo.json	spinal multifocal clear cell meningioma|multifocal clear cell meningioma of spine|multifocal clear cell meningioma of the spine	http://purl.obolibrary.org/obo/MONDO_0004371	UMLS:C1336051|NCIT:C5287|DOID:7824	
MONDO:0004370	biolink:Disease	sphenocavernous meningioma	A meningioma that affects the sphenocavernous region.	DOID:7820|UMLS:C1336036|NCIT:C5313	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004370	UMLS:C1336036|NCIT:C5313|DOID:7820	
MONDO:0004373	biolink:Disease	adult papillary meningioma	A papillary meningioma occurring in adults.	NCIT:C8293|UMLS:C0281334|DOID:7826	mondo.json	papillary meningioma of adults|adult papillary meningioma|papillary meningioma	http://purl.obolibrary.org/obo/MONDO_0004373	NCIT:C8293|UMLS:C0281334|DOID:7826	
MONDO:0004372	biolink:Disease	chronic toxic polyneuropathy		NCIT:C35603|UMLS:C1333048|DOID:7825	mondo.json	chronic toxic polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0004372	UMLS:C1333048|DOID:7825|NCIT:C35603	
MONDO:0016368	biolink:Disease	Rothmund-Thomson syndrome type 1	Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer.	Orphanet:221008|UMLS:CN201233|OMIM:618625	mondo.json	Poikiloderma Atrophicans and Cataract|poikiloderma of Rothmund-Thomson type 1|ROTHMUND-THOMSON SYNDROME, TYPE 1|RTS1	http://purl.obolibrary.org/obo/MONDO_0016368	UMLS:CN201233|https://omim.org/entry/618625|Orphanet:221008	ordo_clinical_subtype
MONDO:0016369	biolink:Disease	Rothmund-Thomson syndrome type 2	Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.	Orphanet:221016|UMLS:CN201234|OMIM:268400	mondo.json	RTS2|poikiloderma of Rothmund-Thomson type 2|Rothmund-Thomson syndrome, type 2	http://purl.obolibrary.org/obo/MONDO_0016369	UMLS:CN201234|https://omim.org/entry/268400|Orphanet:221016	ordo_clinical_subtype
HGNC:16636	biolink:NamedThing	KIF1B			mondo.json		http://identifiers.org/hgnc/16636		
MONDO:0016364	biolink:Disease	Joubert syndrome with ocular defect	Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy.	ICD10CM:H35.5|GARD:0010168|UMLS:C4274118|SCTID:716998009|Orphanet:220493|UMLS:CN201217	mondo.json	JS-O|Joubert syndrome with ocular anomalies|JBTS3|Joubert syndrome with retinopathy|Joubert syndrome 3	http://purl.obolibrary.org/obo/MONDO_0016364	UMLS:C4274118|Orphanet:220493|http://identifiers.org/snomedct/716998009|UMLS:CN201217	ordo_disease|gard_rare
MONDO:0016365	biolink:Disease	familial primary hyperparathyroidism	An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome.	UMLS:CN201220|GARD:0002837|Orphanet:2207	mondo.json	hereditary primary hyperparathyroidism (disease)	http://purl.obolibrary.org/obo/MONDO_0016365	Orphanet:2207|UMLS:CN201220	disease_grouping|ordo_group_of_disorders
MONDO:0016366	biolink:Disease	maternal phenylketonuria	Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.	GARD:0003413|MESH:D017042|Orphanet:2209	mondo.json	maternal hyperphenylalaninemia|maternal PKU|hyperphenylalaninemic embryopathy|phenylketonuric embryopathy	http://purl.obolibrary.org/obo/MONDO_0016366	http://identifiers.org/mesh/D017042|Orphanet:2209	ordo_malformation_syndrome
MONDO:0016367	biolink:Disease	dermatomyositis	Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness.	Orphanet:221|UMLS:C0011633|ICD9:710.3|NCIT:C26744|EFO:0000398|DOID:10223|MESH:D003882|MedDRA:10012503|SCTID:396230008|GARD:0006263	mondo.json	dermatopolymyositis|DM|adult dermatomyositis|dermatomyositis|polymyositis with skin involvement|Amyopathic dermatomyositis	http://purl.obolibrary.org/obo/MONDO_0016367	http://identifiers.org/snomedct/396230008|Orphanet:221|UMLS:C0011633|DOID:10223|NCIT:C26744|http://identifiers.org/mesh/D003882	ordo_disease|gard_rare
GO:0033267	biolink:NamedThing	obsolete axon part	OBSOLETE. A part of an axon, a cell projection of a neuron.		mondo.json		http://purl.obolibrary.org/obo/GO_0033267		
MONDO:0016360	biolink:Disease	marcothrombocytopenia with mitral valve insufficiency	Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.	Orphanet:220448	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016360	Orphanet:220448	ordo_disease
MONDO:0016361	biolink:Disease	isolated hereditary giant platelet disorder		Orphanet:220452|UMLS:CN226911	mondo.json	isolated hereditary giant platelet disorder|isolated inherited macrothrombocytopenia|isolated hereditary macrothrombocytopenia|isolated inherited giant platelet disorder	http://purl.obolibrary.org/obo/MONDO_0016361	UMLS:CN226911|Orphanet:220452	ordo_group_of_disorders|disease_grouping
NCBITaxon:33554	biolink:OrganismalEntity	Carnivora		GC_ID:1	mondo.json	carnivores|carnivores	http://purl.obolibrary.org/obo/NCBITaxon_33554		
MONDO:0016362	biolink:Disease	attenuated familial adenomatous polyposis	Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features.	NCIT:C6729|Orphanet:220460|SCTID:715866009|UMLS:C2674616|GARD:0008532|MESH:C538265	mondo.json	AAPC|mild form of FAP|hereditary flat adenoma syndrome|AFAP|attenuated adenomatous polyposis coli|HFAS|attenuated familial polyposis coli|attenuated familial adenomatous polyposis|attenuated FAP	http://purl.obolibrary.org/obo/MONDO_0016362	UMLS:C2674616|NCIT:C6729|http://identifiers.org/snomedct/715866009|Orphanet:220460|http://identifiers.org/mesh/C538265	ordo_disease
MONDO:0016363	biolink:Disease	obsolete rare hereditary hemochromatosis	OBSOLETE. Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease). Hemochromatosis type 1 (also called classic hemochromatosis) is not a rare disease.	NCIT:C84764|ICD9:275.01|Orphanet:220489	mondo.json	iron overload disease|rare hereditary hemochromatosis	http://purl.obolibrary.org/obo/MONDO_0016363	Orphanet:220489	ordo_group_of_disorders|ordo_disease|obsoletion_candidate|disease_grouping
MONDO:0004389	biolink:Disease	mite infestation	Infestations with arthropods of the subclass acari, superorder Acariformes.	SCTID:240885009|DOID:7894|ICD9:133|UMLS:C0026229|MESH:D008924|ICD9:133.9	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004389	http://identifiers.org/mesh/D008924|http://identifiers.org/snomedct/240885009|DOID:7894|UMLS:C0026229	
HGNC:28625	biolink:NamedThing	NDUFAF6			mondo.json		http://identifiers.org/hgnc/28625		
MONDO:0004386	biolink:Disease	uterine corpus atypical polypoid adenomyoma	An adenomyoma that arises from the uterine corpus and is characterized by the presence of marked glandular architectural complexity. It may recur following excision.	UMLS:C1519844|DOID:7878|NCIT:C40235	mondo.json	body of uterus atypical polypoid adenomyoma|atypical polypoid adenomyoma of body of uterus	http://purl.obolibrary.org/obo/MONDO_0004386	UMLS:C1519844|NCIT:C40235|DOID:7878	
MONDO:0004385	biolink:Disease	adult xanthogranuloma	A xanthogranuloma that occurs in an adult.	DOID:7875|UMLS:C1332220|NCIT:C27514	mondo.json	adult xanthogranuloma|xanthogranuloma of adults	http://purl.obolibrary.org/obo/MONDO_0004385	NCIT:C27514|DOID:7875|UMLS:C1332220	
MONDO:0004388	biolink:Disease	obsolete testicular spermatocytic seminoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004388		
MONDO:0004387	biolink:Disease	luteoma of pregnancy	A non-neoplastic and self-limited condition that occurs during pregnancy. It is characterized by proliferation of luteinized stromal cells that replace the normal ovarian stromal cells. It is usually manifested with bilateral multinodular ovarian masses. Treatment is not required.	MESH:D018311|UMLS:C1517842|NCIT:C40445|DOID:7880|UMLS:C0024167	mondo.json	luteoma|leuteoma of pregnancy	http://purl.obolibrary.org/obo/MONDO_0004387	UMLS:C0024167|http://identifiers.org/mesh/D018311|UMLS:C1517842|NCIT:C40445|DOID:7880	
MONDO:0004382	biolink:Disease	laryngeal disorder	A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma.	ICD9:478.70|DOID:786|MESH:D007818|UMLS:C0023051|NCIT:C26810|SCTID:60600009	mondo.json	laryngeal disease|larynx disease or disorder|disorder of the larynx|laryngeal disorder|disorder of larynx|disease of larynx|disease or disorder of larynx|larynx disease	http://purl.obolibrary.org/obo/MONDO_0004382	UMLS:C0023051|http://identifiers.org/mesh/D007818|NCIT:C26810|http://identifiers.org/snomedct/60600009|DOID:786	
MONDO:0004381	biolink:Disease	pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia	A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form a single layer and are well polarized. The neoplastic cells exhibit small and uniform nuclei, mild pleomorphism, and rare mitotic figures.	NCIT:C41249|DOID:7851|UMLS:C1518868|SCTID:473418001|ICDO:8453/0	mondo.json	pancreatic intraductal papillary mucinous neoplasm with Low grade dysplasia|pancreatic intraductal papillary-mucinous neoplasm with Low grade dysplasia|pancreatic intraductal papillary-mucinous adenoma	http://purl.obolibrary.org/obo/MONDO_0004381	UMLS:C1518868|NCIT:C41249|DOID:7851|http://identifiers.org/snomedct/473418001	
MONDO:0004384	biolink:Disease	maxillary sinus inverted papilloma	A benign neoplasm that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.	UMLS:C1334645|NCIT:C6840|DOID:7868	mondo.json	inverted papilloma of the maxillary sinus|inverted papilloma of maxillary sinus|maxillary sinus inverted papilloma	http://purl.obolibrary.org/obo/MONDO_0004384	NCIT:C6840|UMLS:C1334645|DOID:7868	
MONDO:0004383	biolink:Disease	adult central nervous system germinoma	A central nervous system germinoma that occurs in an adult.	UMLS:C1370504|NCIT:C5792|DOID:7867	mondo.json	central nervous system germinoma of adults|germinoma of adult central nervous system|germinoma of the adult central nervous system|adult CNS germinoma|germinoma of the adult CNS|germinoma of adult CNS|adult central nervous system germinoma|central nervous system germinoma	http://purl.obolibrary.org/obo/MONDO_0004383	UMLS:C1370504|NCIT:C5792|DOID:7867	
MONDO:0004380	biolink:Disease	dendritic cell sarcoma	A sarcoma that involves the dendritic cell.	ONCOTREE:DCS|DOID:7849|NCIT:C27260|SCTID:446643000	mondo.json	Dendritic cell sarcoma|follicular dendritic cell sarcoma|dendritic cell sarcoma|Dendritic cell sarcoma, not otherwise specified (morphologic abnormality)|sarcoma of dendritic cell	http://purl.obolibrary.org/obo/MONDO_0004380	NCIT:C27260|http://identifiers.org/snomedct/446643000|DOID:7849	
MONDO:0016357	biolink:Disease	dysplastic cortical hyperostosis		Orphanet:2204|GARD:0002022|UMLS:CN201209	mondo.json	Kozlowski-Tsuruta syndrome	http://purl.obolibrary.org/obo/MONDO_0016357	Orphanet:2204|UMLS:CN201209	ordo_malformation_syndrome|gard_rare
MONDO:0016358	biolink:Disease	limited cutaneous systemic sclerosis	Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.	EFO:1001017|Orphanet:220402|SCTID:299276009|MESH:D045745|SCTID:298285004|UMLS:C0748540|DOID:1577|GARD:0001053	mondo.json	limited cutaneous systemic scleroderma|systemic sclerosis, limited|limited scleroderma	http://purl.obolibrary.org/obo/MONDO_0016358	http://identifiers.org/mesh/D045745|UMLS:C0748540|http://identifiers.org/snomedct/299276009|http://identifiers.org/snomedct/298285004|DOID:1577|Orphanet:220402	ordo_clinical_subtype
MONDO:0016359	biolink:Disease	limited systemic sclerosis	Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin.	NCIT:C116789|UMLS:C1290138|GARD:0009749|Orphanet:220407|SCTID:128461001	mondo.json	SSC without skin involvement|systemic sclerosis sine scleroderma|progressive systemic sclerosis sine scleroderma|Scleroderma, sine|systemic sclerosis without skin involvement	http://purl.obolibrary.org/obo/MONDO_0016359	NCIT:C116789|UMLS:C1290138|http://identifiers.org/snomedct/128461001|Orphanet:220407	ordo_clinical_subtype
MONDO:0016353	biolink:Disease	palmoplantar keratoderma-spastic paralysis syndrome		Orphanet:2201|MESH:C538358|GARD:0003095	mondo.json	Powell-Venencie-Gordon syndrome|palmoplantar hyperkeratosis-spastic paralysis syndrome|keratoderma palmoplantar spastic paralysis	http://purl.obolibrary.org/obo/MONDO_0016353	Orphanet:2201|http://identifiers.org/mesh/C538358	ordo_disease
MONDO:0016354	biolink:Disease	xeroderma pigmentosum-Cockayne syndrome complex	Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS).	Orphanet:220295|ICD10CM:Q82.1|UMLS:CN201205	mondo.json	XP/CS complex	http://purl.obolibrary.org/obo/MONDO_0016354	UMLS:CN201205|Orphanet:220295	ordo_disease
NCBITaxon:297308	biolink:OrganismalEntity	Ixodoidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_297308		
MONDO:0016355	biolink:Disease	semilobar holoprosencephaly	Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.	Orphanet:220386|OMIM:157170	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016355	Orphanet:220386	ordo_clinical_subtype
HGNC:16644	biolink:NamedThing	IFITM5			mondo.json		http://identifiers.org/hgnc/16644		
MONDO:0016356	biolink:Disease	diffuse cutaneous systemic sclerosis	Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).	NCIT:C116791|Orphanet:220393|GARD:0009751	mondo.json	diffuse cutaneous systemic scleroderma|progressive cutaneous systemic sclerosis|dSSc|progressive cutaneous systemic scleroderma|DcSSc	http://purl.obolibrary.org/obo/MONDO_0016356	NCIT:C116791|Orphanet:220393	ordo_clinical_subtype|gard_rare
MONDO:0016350	biolink:Disease	hydrocephalus-blue sclerae-nephropathy syndrome	Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.	GARD:0000236|Orphanet:2186|MESH:C535768	mondo.json	Daentl-Townsend-Siegel syndrome|familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome|hydrocephalus blue sclera nephropathy	http://purl.obolibrary.org/obo/MONDO_0016350	http://identifiers.org/mesh/C535768|Orphanet:2186	ordo_malformation_syndrome|gard_rare
MONDO:0016351	biolink:Disease	anti-HLA hyperimmunization	Anti-HLA hyperimmunization is an increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion.	GARD:0000730|UMLS:CN201194|Orphanet:2194	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016351	Orphanet:2194|UMLS:CN201194	gard_rare|ordo_disease
MONDO:0016352	biolink:Disease	idiopathic inherited hypercalciuria		Orphanet:2197	mondo.json	idiopathic hypercalciuria	http://purl.obolibrary.org/obo/MONDO_0016352	Orphanet:2197	ordo_disease
MONDO:0006936	biolink:Disease	pulmonary valve stenosis	The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete.	EFO:1001138|DOID:6420|MESH:D011666|MedDRA:10037450	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006936	DOID:6420|http://identifiers.org/mesh/D011666	
MONDO:0006937	biolink:Disease	pulpitis	Inflammation of the dental pulp.	ICD9:522.0|DOID:11121|UMLS:C0034103|SCTID:32620007|ICD10CM:K04.0|MESH:D011671|MedDRA:10037463|EFO:1001139	mondo.json	inflammation of dental pulp|dental pulp inflammation	http://purl.obolibrary.org/obo/MONDO_0006937	http://identifiers.org/snomedct/32620007|http://identifiers.org/mesh/D011671|UMLS:C0034103|DOID:11121|http://purl.bioontology.org/ontology/ICD10CM/K04.0	
CHEBI:22586	biolink:ChemicalSubstance	antioxidant	A substance that opposes oxidation or inhibits reactions brought about by dioxygen or peroxides.		mondo.json	antioxidants|antioxydant|antoxidant	http://purl.obolibrary.org/obo/CHEBI_22586		
MONDO:0006934	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0006934		
MONDO:0006935	biolink:Disease	pulmonary subvalvular stenosis	The obstruction of the right ventricular outflow tract that originates within the body of the right ventricle, that exists at the time of birth; it often occurs in association with other intracardiac anomalies.	EFO:1001137|MESH:D011662|NCIT:C34961|DOID:8861|SCTID:204370002|ICD9:746.83	mondo.json	pulmonary infundibular stenosis|congenital infundibular stenosis|subvalvular pulmonic stenosis|infundibular pulmonic stenosis|infundibular pulmonic stenosis, congenital	http://purl.obolibrary.org/obo/MONDO_0006935	NCIT:C34961|http://identifiers.org/mesh/D011662|http://identifiers.org/snomedct/204370002|DOID:8861	
MONDO:0006932	biolink:Disease	pulmonary edema	Accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. It is caused by direct injury to the lung parenchyma or congestive heart failure. The symptoms may appear suddenly or gradually. Suddenly appearing symptoms include difficulty breathing, feeling of suffocation, and coughing associated with frothy sputum. Gradually appearing symptoms include difficulty breathing while lying in bed, shortness of breath during activity, and weight gain (in patients with congestive heart failure).	ICD10CM:J81|EFO:1001134|DOID:11396|UMLS:C0034063|MedDRA:10037375|NCIT:C26868|MESH:D011654|SCTID:19242006	mondo.json	edema, pulmonary	http://purl.obolibrary.org/obo/MONDO_0006932	http://identifiers.org/mesh/D011654|http://purl.bioontology.org/ontology/ICD10CM/J81|UMLS:C0034063|DOID:11396|NCIT:C26868|http://identifiers.org/snomedct/19242006	
MONDO:0006933	biolink:Disease	pulmonary plasma cell granuloma	A tumor-like inflammatory lesion of the lung that is composed of plasma cells and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter.	EFO:1001135|UMLS:C0085269|SCTID:1648002|MESH:D016726|DOID:3677|ICD9:518.89	mondo.json	granuloma, plasma cell, pulmonary|lymphocytic pseudotumor of lung|sclerosing hemangiocytoma of lung	http://purl.obolibrary.org/obo/MONDO_0006933	DOID:3677|http://identifiers.org/mesh/D016726|http://identifiers.org/snomedct/1648002|UMLS:C0085269	
MONDO:0800090	biolink:Disease	ectrodactyly with and without other manifestations		Orphanet:498477	mondo.json		http://purl.obolibrary.org/obo/MONDO_0800090	Orphanet:498477	
MONDO:0006930	biolink:Disease	pseudobulbar palsy	A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes.	MESH:D020828|MedDRA:10037114|SCTID:7379000|EFO:1001131|DOID:12680|NCIT:C129934|ICD9:335.23|UMLS:C0033790	mondo.json	pseudobulbar paralysis|pseudobulbar palsy	http://purl.obolibrary.org/obo/MONDO_0006930	NCIT:C129934|DOID:12680|UMLS:C0033790|http://identifiers.org/mesh/D020828|http://identifiers.org/snomedct/7379000	
HGNC:1975	biolink:NamedThing	VSX2			mondo.json		http://identifiers.org/hgnc/1975		
MONDO:0006931	biolink:Disease	pulmonary coin lesion	A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the chest wall, or the pleura.	EFO:1001133|DOID:5364|MESH:D003074|UMLS:C0009250	mondo.json	coin lesion of lung (context-dependent category)|coin lesion of lung|coin lesion lung|coin lesion of lung (finding)	http://purl.obolibrary.org/obo/MONDO_0006931	DOID:5364|http://identifiers.org/mesh/D003074|UMLS:C0009250	
MONDO:0800093	biolink:Disease	dysostosis with brachydactyly without extraskeletal manifestations		Orphanet:498451	mondo.json		http://purl.obolibrary.org/obo/MONDO_0800093	Orphanet:498451	ordo_group_of_disorders|disease_grouping
MONDO:0800094	biolink:Disease	dysostosis with brachydactyly with extraskeletal manifestations		Orphanet:498454	mondo.json		http://purl.obolibrary.org/obo/MONDO_0800094	Orphanet:498454	ordo_group_of_disorders|disease_grouping
MONDO:0800091	biolink:Disease	overgrowth or tall stature syndrome with skeletal involvement		Orphanet:498448	mondo.json		http://purl.obolibrary.org/obo/MONDO_0800091	Orphanet:498448	ordo_group_of_disorders|disease_grouping
MONDO:0800092	biolink:Disease	genetic inflammatory or rheumatoid-like osteoarthropathy		Orphanet:498445	mondo.json		http://purl.obolibrary.org/obo/MONDO_0800092	Orphanet:498445	
MONDO:0018918	biolink:Disease	carcinoma of gallbladder and extrahepatic biliary tract	Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites.	Orphanet:56044|UMLS:C0235782|UMLS:C0153452|MedDRA:10007426|UMLS:CN205299	mondo.json	carcinoma of gallbladder and EBT	http://purl.obolibrary.org/obo/MONDO_0018918	Orphanet:56044|UMLS:CN205299	disease_grouping|ordo_group_of_disorders
MONDO:0018917	biolink:Disease	obsolete Marfan syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018917		
MONDO:0800098	biolink:Disease	SNRNP200-related dominant retinopathy	A retinopathy caused by heterozygous variants in the SNRNP200 gene.		mondo.json	SNRNP200-related dominant retinopathy|RP33|SNRNP200 retinitis pigmentosa|retinitis pigmentosa type 33|retinitis pigmentosa caused by mutation in SNRNP200|retinitis pigmentosa 33|RP 33	http://purl.obolibrary.org/obo/MONDO_0800098		
MONDO:0800095	biolink:Disease	syndrome with synostosis or other joint formation defect		Orphanet:93459|UMLS:CN206620	mondo.json		http://purl.obolibrary.org/obo/MONDO_0800095	Orphanet:93459|UMLS:CN206620	ordo_group_of_disorders
MONDO:0018919	biolink:Disease	McCune-Albright syndrome	McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafe-au-lait skin spots, and precocious puberty (PP).	GARD:0006995|ICD10CM:Q78.1|NCIT:C48627|UMLS:C0016065|UMLS:C0242292|MESH:D005359|Orphanet:562|SCTID:726029005|DOID:1858|OMIM:174800	mondo.json	MAS|gonadotropin-independent female-limited sexual precocity|mccune-albright syndrome, somatic, mosaic|polyostotic fibrous dysplasia|PFD|POFD|McCune Albright syndrome|Albright's disease	http://purl.obolibrary.org/obo/MONDO_0018919	UMLS:C0242292|NCIT:C48627|Orphanet:562|http://identifiers.org/snomedct/726029005|https://omim.org/entry/174800|UMLS:C0016065|DOID:1858	ordo_disease
MONDO:0800096	biolink:Disease	abnormal mineralization disorder	A skeletal dysplasia where osteoid becomes calcified.		mondo.json	osteomalacia|disorder of bone mineralization	http://purl.obolibrary.org/obo/MONDO_0800096		
MONDO:0018925	biolink:Disease	familial or sporadic hemiplegic migraine	Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).	OMIM:609634|OMIM:141500|OMIM:602481|OMIM:607516|Orphanet:569|GARD:0010768|ICD9:346.30|SCTID:59292006	mondo.json	familial or sporadic hemiplegic migraine|hemiplegic migraine	http://purl.obolibrary.org/obo/MONDO_0018925	Orphanet:569|http://identifiers.org/snomedct/59292006	gard_rare|ordo_disease
UBERON:0003571	biolink:AnatomicalEntity	trachea connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003571		
MONDO:0018924	biolink:Disease	microphthalmia, Lenz type	A very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome.	OMIM:300166|Orphanet:568|GARD:0000087	mondo.json	MAA (formerly)|microphthalmia or anophthalmos with associated anomalies (formerly)|microphthalmia Lenz type|syndromic microphthalmia type 1|MCOPS1|Lenz microphthamia syndrome|Lenz dysplasia|microphthalmia syndromic 1|Lenz microphthalmia	http://purl.obolibrary.org/obo/MONDO_0018924	Orphanet:568	ordo_malformation_syndrome|gard_rare
UBERON:0003572	biolink:AnatomicalEntity	chest connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003572		
MONDO:0018927	biolink:Disease	SUNCT syndrome	SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing).	GARD:0009257|NCIT:C85174|MESH:D050798|UMLS:C1262087|SCTID:725058003|Orphanet:57145|MedDRA:10061981	mondo.json	short-lasting, unilateral, neuralgiform headache attacks with conjunctival injection and tearing|short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing|SUNCT headache	http://purl.obolibrary.org/obo/MONDO_0018927	Orphanet:57145|http://identifiers.org/snomedct/725058003|NCIT:C85174|UMLS:C1262087|http://identifiers.org/mesh/D050798	ordo_disease
MONDO:0800099	biolink:Disease	RDH12-related recessive retinopathy	A retinopathy, typically severe, and early onset, caused by biallelic variants in the RDH12 gene.		mondo.json	Leber congenital amaurosis 13|retinitis pigmentosa 53|RDH12-related recessive retinopathy|Leber congenital amaurosis caused by mutation in RDH12|LCA13|RDH12 Leber congenital amaurosis|Leber congenital amaurosis type 13	http://purl.obolibrary.org/obo/MONDO_0800099		
UBERON:0003570	biolink:AnatomicalEntity	respiratory system connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003570		
MONDO:0018926	biolink:Disease	human prion disease	Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ).	ICD10CM:A81.1|Orphanet:56970	mondo.json	TSE|transmissible spongiform encephalopathy	http://purl.obolibrary.org/obo/MONDO_0018926	Orphanet:56970	disease_grouping|ordo_group_of_disorders
MONDO:0018921	biolink:Disease	Meckel syndrome	A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.	GARD:0003436|NCIT:C98978|ICD9:753.10|OMIMPS:249000|ICD9:753.1|ICD9:759.89|DOID:0050778|Orphanet:564|SCTID:29076005|UMLS:C0265215	mondo.json	Meckel-Gruber syndrome	http://purl.obolibrary.org/obo/MONDO_0018921	UMLS:C0265215|https://omim.org/phenotypicSeries/PS249000|Orphanet:564|DOID:0050778|NCIT:C98978|http://identifiers.org/snomedct/29076005	ordo_malformation_syndrome
MONDO:0018920	biolink:Disease	peripartum cardiomyopathy	Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery.	ICD10CM:O90.3|GARD:0000220|Orphanet:563|DOID:9997|MedDRA:10049430|EFO:0002628|ICD9:674.54|ICD9:674.5|SCTID:62377009|UMLS:C0269972	mondo.json	postpartum cardiomyopathy|postpartum peripartum cardiomyopathy|antepartum peripartum cardiomyopathy|peripartum cardiomyopathy|Meadows' syndrome	http://purl.obolibrary.org/obo/MONDO_0018920	Orphanet:563|http://identifiers.org/snomedct/62377009|http://purl.bioontology.org/ontology/ICD10CM/O90.3|DOID:9997|UMLS:C0269972	ordo_disease|gard_rare
MONDO:0018923	biolink:Disease	22q11.2 deletion syndrome	22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.	MedDRA:10066430|GARD:0010299|Orphanet:567|DECIPHER:16|MedDRA:10012979	mondo.json	DiGeorge sequence|DiGeorge syndrome|conotruncal anomaly face syndrome|22q11DS|Cayler cardiofacial syndrome|monosomy 22q11|velocardiofacial syndrome|microdeletion 22q11.2|Sedlackova syndrome|Shprintzen syndrome|catch 22|VCFS|Takao syndrome	http://purl.obolibrary.org/obo/MONDO_0018923	Orphanet:567	ordo_malformation_syndrome
MONDO:0018922	biolink:Disease	cold agglutinin disease	Cold agglutinin disease is a type of autoimmune hemolytic anemia defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C).	UMLS:CN205305|Orphanet:56425|SCTID:127055007|UMLS:C1264008|GARD:0006130	mondo.json	chronic cold agglutinin disease|CAS|cold agglutinin syndrome|cold antibody disease|cold antibody hemolytic anemia|anemia, hemolytic, cold antibody|CAD	http://purl.obolibrary.org/obo/MONDO_0018922	Orphanet:56425|UMLS:C1264008|http://identifiers.org/snomedct/127055007|UMLS:CN205305	ordo_disease
HGNC:1984	biolink:NamedThing	CISH			mondo.json		http://identifiers.org/hgnc/1984		
UBERON:0003579	biolink:AnatomicalEntity	shoulder connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003579		
HGNC:1985	biolink:NamedThing	CIT			mondo.json		http://identifiers.org/hgnc/1985		
UBERON:0003577	biolink:AnatomicalEntity	knee connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003577		
UBERON:0003578	biolink:AnatomicalEntity	pedal digit connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003578		
HGNC:1983	biolink:NamedThing	UTP4			mondo.json		http://identifiers.org/hgnc/1983		
MONDO:0006929	biolink:Disease	Proteus infectious disease	Infections with bacteria of the genus proteus.	SCTID:186437007|EFO:1001130|UMLS:C0033700|MESH:D011512	mondo.json	infection, Proteus|Proteus <enterobacteria> disease or disorder|Proteus infection|Proteus <enterobacteria> infectious disease|Proteus <enterobacteria> caused disease or disorder|infections, Proteus	http://purl.obolibrary.org/obo/MONDO_0006929	UMLS:C0033700|http://identifiers.org/mesh/D011512|http://identifiers.org/snomedct/186437007	
UBERON:0003575	biolink:AnatomicalEntity	wrist connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003575		
HGNC:1980	biolink:NamedThing	CILP			mondo.json		http://identifiers.org/hgnc/1980		
UBERON:0003576	biolink:AnatomicalEntity	hip connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003576		
MONDO:0006927	biolink:Disease	Rickettsiaceae infectious disease	Infections with bacteria of the family rickettsiaceae.	EFO:1001128|MESH:D012288	mondo.json	infections, Rickettsiaceae|Rickettsiaceae disease or disorder|Rickettsiaceae infection|Rickettsiaceae caused disease or disorder|infection, Rickettsiaceae|rickettsialpox	http://purl.obolibrary.org/obo/MONDO_0006927	http://identifiers.org/mesh/D012288	
UBERON:0003573	biolink:AnatomicalEntity	arm connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003573		
MONDO:0006928	biolink:Disease	proliferative vitreoretinopathy	Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes.	ICD9:362.29|EFO:1001129|MESH:D018630|Orphanet:329211|UMLS:C0242852|DOID:9719|OMIM:193235|MedDRA:10057896|SCTID:232016005	mondo.json	retinitis proliferans|ADNIV|vitreoretinopathy, neovascular inflammatory|vitreoretinopathy, neovascular inflammatory, autosomal dominant|VRNI|autosomal dominant neovascular inflammatory vitreoretinopathy	http://purl.obolibrary.org/obo/MONDO_0006928	Orphanet:329211|UMLS:C0242852|https://omim.org/entry/193235|http://identifiers.org/snomedct/232016005|http://identifiers.org/mesh/D018630|DOID:9719	obsoletion_candidate|ordo_disease
UBERON:0003574	biolink:AnatomicalEntity	elbow connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003574		
MONDO:0006947	biolink:Disease	renovascular hypertension	High blood pressure secondary to renal artery stenosis.	ICD10CM:I15.0|EFO:1001153|DOID:1591|ICD9:405.91|UMLS:C0020545|SCTID:123799005|HP:0100817	mondo.json	renovascular hypertension|renovascular hypertension (disease)	http://purl.obolibrary.org/obo/MONDO_0006947	http://purl.bioontology.org/ontology/ICD10CM/I15.0|http://identifiers.org/snomedct/123799005|DOID:1591|UMLS:C0020545	
MONDO:0006948	biolink:Disease	retinal artery occlusion	An occlusion of the retinal artery.	SCTID:232035005|UMLS:C0035302|MESH:D015356|EFO:1001154|NCIT:C34978|DOID:8483|MedDRA:10038827	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006948	http://identifiers.org/snomedct/232035005|NCIT:C34978|UMLS:C0035302|DOID:8483|http://identifiers.org/mesh/D015356	
MONDO:0006945	biolink:Disease	renal artery obstruction	Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular).	MESH:D012078|DOID:2972|EFO:1001150|UMLS:C0035066	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006945	http://identifiers.org/mesh/D012078|UMLS:C0035066|DOID:2972	
MONDO:0006946	biolink:Disease	renal osteodystrophy	Abnormalities of bone mineral metabolism associated with chronic kidney disease.	MedDRA:10038489|SCTID:16726004|EFO:1001152|ICD9:588.0|UMLS:C0035086|DOID:13068|GARD:0007551|MESH:D012080|ICD10CM:N25.0	mondo.json	Osteodystrophies, renal|osteodystrophy, renal|rickets, renal|renal Osteodystrophies|renal rickets	http://purl.obolibrary.org/obo/MONDO_0006946	http://identifiers.org/mesh/D012080|DOID:13068|UMLS:C0035086|http://purl.bioontology.org/ontology/ICD10CM/N25.0|http://identifiers.org/snomedct/16726004	
MONDO:0006943	biolink:Disease	obsolete relapsing polychondritis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006943		
MONDO:0006944	biolink:Disease	renal aminoaciduria	A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved.	MESH:D000608|MedDRA:10001939|SCTID:35912001|EFO:1001149	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006944	http://identifiers.org/mesh/D000608|http://identifiers.org/snomedct/35912001	
MONDO:0006941	biolink:Disease	rat-bite fever	An infectious disease that is caused transmitted by the bite of a rat. Two species of bacteria can cause the infection: Streptobacillus moniliformis and Spirillum minus.	EFO:1001144|GARD:0009557|UMLS:C0034686|MedDRA:10037904|ICD9:026.9|SCTID:1685005|NCIT:C34971|MESH:D011906|Orphanet:31205	mondo.json	spirillosis|rat bite fever|Streptobacillosis	http://purl.obolibrary.org/obo/MONDO_0006941	NCIT:C34971|http://identifiers.org/snomedct/1685005|http://identifiers.org/mesh/D011906|UMLS:C0034686|Orphanet:31205	gard_rare|ordo_disease
UBERON:0003559	biolink:AnatomicalEntity	hindbrain arachnoid mater			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003559		
MONDO:0006942	biolink:Disease	obsolete reflex epilepsy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006942		
HGNC:1987	biolink:NamedThing	CITED2			mondo.json		http://identifiers.org/hgnc/1987		
MONDO:0006940	biolink:Disease	radial nerve lesion	A peripheral nerve lesion that involves the radial nerve.	EFO:1001143|UMLS:C0154744|MedDRA:10061477|DOID:12170|SCTID:193137006|ICD9:354.3	mondo.json	radial nerve lesions|peripheral nerve lesion of radial nerve|lesion of radial nerve|radial nerve peripheral nerve lesion	http://purl.obolibrary.org/obo/MONDO_0006940	DOID:12170|http://identifiers.org/snomedct/193137006|UMLS:C0154744	
MONDO:0018907	biolink:Disease	craniopharyngioma	A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)	MedDRA:10011318|UMLS:C0010276|ICD9:237.0|MESH:D003397|ICDO:9350/1|GARD:0010486|DOID:3840|SCTID:189179009|EFO:1000209|NCIT:C2964|Orphanet:54595	mondo.json	craniopharyngioma (WHO grade I)|Adamantinomatous tumor|Rathke's pouch tumor|neoplasm of Rathke's pouch|Rathke's pouch neoplasm|Dysodontogenic epithelial tumor|Rathke pouch neoplasm|craniopharyngioma (morphologic abnormality)|craniopharyngeal duct tumor|tumor of Rathke's pouch|craniopharyngioma, benign|cystoma|Rathke pouch tumor	http://purl.obolibrary.org/obo/MONDO_0018907	http://identifiers.org/mesh/D003397|NCIT:C2964|UMLS:C0010276|Orphanet:54595|DOID:3840|http://identifiers.org/snomedct/189179009	ordo_disease
MONDO:0018906	biolink:Disease	follicular lymphoma	Follicular lymphoma is a form of non-Hodgkin lymphoma characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved.	ONCOTREE:FL|UMLS:C0024301|NCIT:C3209|MESH:D008224|DOID:0050873|ICDO:9690/3|GARD:0002356|Orphanet:545|SCTID:308121000|HGNC:990	mondo.json	follicle center lymphoma|lymphoma, follicular|lymphoma, follicular, malignant|lymphoma, follicular centre cell|follicular non-Hodgkin's lymphoma|follicular non-Hodgkin lymphoma|follicular centre cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0018906	NCIT:C3209|http://identifiers.org/snomedct/308121000|http://identifiers.org/mesh/D008224|Orphanet:545|UMLS:C0024301|DOID:0050873	ordo_disease|gard_rare
MONDO:0018909	biolink:Disease	obsolete legionellosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018909		
MONDO:0018908	biolink:Disease	non-Hodgkin lymphoma	Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage.	NCIT:C3211|ICDO:9591/3|MESH:D008228|Orphanet:547|MedDRA:10029547|EFO:0005952|UMLS:C0024305|DOID:0060060|ONCOTREE:NHL	mondo.json	NHL|non-Hodgkins lymphoma|non-Hodgkin's lymphoma|non-Hodgkin's lymphoma (NHL)|non-Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0018908	NCIT:C3211|http://identifiers.org/mesh/D008228|Orphanet:547|UMLS:C0024305|DOID:0060060	disease_grouping|ordo_group_of_disorders
MONDO:0018914	biolink:Disease	hypotrichosis simplex	Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.	MESH:C537160|UMLS:C1854310|GARD:0009170|SCTID:723362004|Orphanet:55654	mondo.json	hereditary hypotrichosis simplex	http://purl.obolibrary.org/obo/MONDO_0018914	http://identifiers.org/mesh/C537160|http://identifiers.org/snomedct/723362004|Orphanet:55654|UMLS:C1854310	ordo_disease
HGNC:16628	biolink:NamedThing	SLC49A4			mondo.json		http://identifiers.org/hgnc/16628		
UBERON:0003560	biolink:AnatomicalEntity	spinal cord arachnoid mater			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003560		
MONDO:0018913	biolink:Disease	malakoplakia	Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body.	NCIT:C84833|Orphanet:556|EFO:1001807|SCTID:716766007|MESH:D008287|GARD:0006960	mondo.json	malacoplakia	http://purl.obolibrary.org/obo/MONDO_0018913	http://identifiers.org/mesh/D008287|Orphanet:556|http://identifiers.org/snomedct/716766007|NCIT:C84833	ordo_disease|gard_rare
HGNC:16627	biolink:NamedThing	CHEK2			mondo.json		http://identifiers.org/hgnc/16627		
UBERON:0003561	biolink:AnatomicalEntity	forebrain dura mater			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003561		
MONDO:0018916	biolink:Disease	isolated anorectal malformation	Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls.	Orphanet:557	mondo.json	nonsyndromic anorectal malformation	http://purl.obolibrary.org/obo/MONDO_0018916	Orphanet:557	ordo_morphological_anomaly
MONDO:0018915	biolink:Disease	obsolete pneumococcal meningitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018915		
MONDO:0018910	biolink:Disease	oculocutaneous albinism	Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.	Orphanet:55|MESH:D016115|DOID:0050632|OMIMPS:203100|UMLS:C0078918|NCIT:C84941|GARD:0010958|ICD9:270.2|SCTID:63844009	mondo.json	non-syndromic oculocutaneous albinism|albinism, oculocutaneous|OCA|nonsyndromic oculocutaneous albinism	http://purl.obolibrary.org/obo/MONDO_0018910	DOID:0050632|UMLS:C0078918|Orphanet:55|http://identifiers.org/mesh/D016115|https://omim.org/phenotypicSeries/PS203100|NCIT:C84941|http://identifiers.org/snomedct/63844009	disease_grouping|gard_rare|ordo_group_of_disorders
MONDO:0018912	biolink:Disease	Cushing syndrome	Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin.	ICD10CM:E24|MESH:D003480|ICD9:255.0|MedDRA:10020564|MESH:D000308|MedDRA:10020562|MedDRA:10011652|UMLS:C0001622|EFO:0003099|GARD:0006224|NCIT:C2969|Orphanet:553|UMLS:C0010481|MedDRA:10020610	mondo.json	ectopic adrenocorticotropic hormone syndrome|suprarenogenic syndrome|cortisol Excess|Cushing syndrome|nodular primary adrenocortical dysplasia|adrenal hyperfunction resulting from pituitary ACTH excess|Cushing's syndrome|hyperadrenocorticism|hypercortisolism|pituitary basophilism	http://purl.obolibrary.org/obo/MONDO_0018912	NCIT:C2969|Orphanet:553|http://purl.bioontology.org/ontology/ICD10CM/E24|UMLS:C0010481|http://identifiers.org/mesh/D003480	disease_grouping|ordo_group_of_disorders
MONDO:0018911	biolink:Disease	maturity-onset diabetes of the young	MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.	SCTID:609561005|DOID:0050524|HP:0004904|MESH:C562772|Orphanet:552|GARD:0003697|UMLS:C0342276|NCIT:C114769|KEGG:04950|OMIM:606391	mondo.json	MODY|maturity-onset diabetes of the young|Mason type diabetes|maturity-onset diabetes of the young (disease)|Mason-type diabetes|maturity onset diabetes of the young	http://purl.obolibrary.org/obo/MONDO_0018911	Orphanet:552|DOID:0050524|UMLS:C0342276|NCIT:C114769|http://identifiers.org/snomedct/609561005|http://identifiers.org/mesh/C562772|https://omim.org/entry/606391	ordo_disease
UBERON:0003568	biolink:AnatomicalEntity	neck connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003568		
UBERON:0003569	biolink:AnatomicalEntity	leg connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003569		
UBERON:0003566	biolink:AnatomicalEntity	head connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003566		
UBERON:0003567	biolink:AnatomicalEntity	abdomen connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003567		
UBERON:0003564	biolink:AnatomicalEntity	diencephalon dura mater			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003564		
UBERON:0003565	biolink:AnatomicalEntity	hindbrain dura mater			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003565		
UBERON:0003562	biolink:AnatomicalEntity	midbrain dura mater			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003562		
MONDO:0006938	biolink:Disease	pyelitis	Inflammation of the renal pelvis.	DOID:2744|MedDRA:10037584|UMLS:C0034183|SCTID:27174002|EFO:1001140|MESH:D011702|NCIT:C34964	mondo.json	inflammation of renal pelvis|renal pelvis inflammation	http://purl.obolibrary.org/obo/MONDO_0006938	http://identifiers.org/snomedct/27174002|NCIT:C34964|http://identifiers.org/mesh/D011702|UMLS:C0034183|DOID:2744	
MONDO:0006939	biolink:Disease	pyelonephritis	An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion.	MESH:D011704|SCTID:45816000|MedDRA:10037596|NCIT:C34965|ICD9:590.80|DOID:11400|EFO:1001141|GARD:0012020|UMLS:C0034186	mondo.json	kidney infection|pyometrium	http://purl.obolibrary.org/obo/MONDO_0006939	http://identifiers.org/snomedct/45816000|NCIT:C34965|http://identifiers.org/mesh/D011704|UMLS:C0034186|DOID:11400	
UBERON:0003563	biolink:AnatomicalEntity	telencephalon dura mater			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003563		
CHEBI:22563	biolink:ChemicalSubstance	anion	A monoatomic or polyatomic species having one or more elementary charges of the electron.		mondo.json	aniones|anions|Anionen|Anion|anion	http://purl.obolibrary.org/obo/CHEBI_22563		
MONDO:0006914	biolink:Disease	obsolete POEMS syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006914		
MONDO:0006915	biolink:Disease	polyradiculoneuropathy	Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (guillain-barre syndrome) and polyradiculoneuropathy, chronic inflammatory demyelinating. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots.	EFO:1001116|UMLS:C0032587|DOID:4308|SCTID:128078004|MESH:D011129	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006915	UMLS:C0032587|DOID:4308|http://identifiers.org/mesh/D011129|http://identifiers.org/snomedct/128078004	
MONDO:0006912	biolink:Disease	pneumatosis cystoides intestinalis	The presence of gas within the wall of the large or small intestine.	UMLS:C0032266|MESH:D011006|DOID:13249|EFO:1001113|MedDRA:10049732|SCTID:17465007|ICD9:569.89	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006912	http://identifiers.org/mesh/D011006|DOID:13249|http://identifiers.org/snomedct/17465007|UMLS:C0032266	
MONDO:0006913	biolink:Disease	pneumococcal meningitis	An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)	ICD10CM:G00.1|EFO:1001114|MESH:D008586|MedDRA:10035645|UMLS:C0025295|Orphanet:55655|ICD9:320.1|MedDRA:10027253|SCTID:51169003	mondo.json	Streptococcus pneumoniae infectious meningitis|Streptococcus pneumoniae caused infectious meningitis	http://purl.obolibrary.org/obo/MONDO_0006913	UMLS:C0025295|http://identifiers.org/mesh/D008586|Orphanet:55655|http://purl.bioontology.org/ontology/ICD10CM/G00.1|http://identifiers.org/snomedct/51169003	ordo_disease
GO:0045250	biolink:NamedThing	cytosolic pyruvate dehydrogenase complex	Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA; comprises subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3). Usually contains fewer subunits than its eukaryotic counterpart; for example, the E. coli complex contains 12 E1 dimers, 8 E2 trimers, and 6 E3 dimers arranged in highly symmetric cubic order.		mondo.json	pyruvate dehydrogenase complex (lipoamide)	http://purl.obolibrary.org/obo/GO_0045250		
CHEBI:22562	biolink:ChemicalSubstance	anilines	Any  aromatic amine that is benzene carrying at least one amino substituent and its substituted derivatives.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_22562		
MONDO:0006910	biolink:Disease	obsolete pituitary-dependent Cushing disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006910		
MONDO:0006911	biolink:Disease	obsolete placental site trophoblastic tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006911		
UBERON:0003548	biolink:AnatomicalEntity	forebrain meninges			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003548		
UBERON:0003549	biolink:AnatomicalEntity	brain pia mater			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003549		
NCBITaxon:464095	biolink:OrganismalEntity	Picornavirales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_464095		
GO:0045259	biolink:NamedThing	proton-transporting ATP synthase complex	A proton-transporting two-sector ATPase complex that catalyzes the phosphorylation of ADP to ATP during oxidative phosphorylation. The complex comprises a membrane sector (F0) that carries out proton transport and a cytoplasmic compartment sector (F1) that catalyzes ATP synthesis by a rotational mechanism; the extramembrane sector (containing 3 a and 3 b subunits) is connected via the d-subunit to the membrane sector by several smaller subunits. Within this complex, the g and e subunits and the 9-12 c subunits rotate by consecutive 120 degree angles and perform parts of ATP synthesis. This movement is driven by the hydrogen ion electrochemical potential gradient.		mondo.json	F1-F0 complex|hydrogen-transporting ATP synthase complex|proton-transporting F-type ATPase complex|hydrogen-translocating F-type ATPase complex	http://purl.obolibrary.org/obo/GO_0045259		
GO:0045254	biolink:NamedThing	pyruvate dehydrogenase complex	Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA; comprises subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3).		mondo.json	pyruvate dehydrogenase complex (lipoamide)|dihydrolipoyl dehydrogenase complex	http://purl.obolibrary.org/obo/GO_0045254		
MONDO:0018903	biolink:Disease	sarcocystosis	Infection of the striated muscle of mammals by parasites of the genus sarcocystis. Disease symptoms such as vomiting, diarrhea, muscle weakness, and paralysis are produced by sarcocystin, a toxin produced by the organism.	ICD9:136.5|Orphanet:54368|MESH:D012523|EFO:0007476|UMLS:C0036231|SCTID:88905005|DOID:9640|MedDRA:10039483	mondo.json	sarcosporidiosis	http://purl.obolibrary.org/obo/MONDO_0018903	http://identifiers.org/snomedct/88905005|http://identifiers.org/mesh/D012523|UMLS:C0036231|Orphanet:54368|DOID:9640	ordo_disease
MONDO:0018902	biolink:Disease	hepatocellular adenoma	A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use.	Orphanet:54272|MedDRA:10019827|EFO:0000762|MESH:D018248|UMLS:C0206669|NCIT:C3758|DOID:0050868|ONCOTREE:LIAD|ICDO:8170/0|OMIM:114550	mondo.json	liver cell adenoma|HCA|hepatocellular adenoma|adenoma of the liver cells|adenoma of liver cells|adenoma, hepatocellular, benign|LIAD	http://purl.obolibrary.org/obo/MONDO_0018902	NCIT:C3758|DOID:0050868|UMLS:C0206669|Orphanet:54272|http://identifiers.org/mesh/D018248	ordo_disease
UBERON:0003550	biolink:AnatomicalEntity	forebrain pia mater			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003550		
MONDO:0018905	biolink:Disease	diffuse large B-cell lymphoma	Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common.	ICD9:200.7|EFO:0000403|UMLS:C0079744|DOID:0050745|MedDRA:10012818|Orphanet:544|MESH:D016403|GARD:0003178|ICDO:9680/3|NCIT:C8851	mondo.json	diffuse large B-cell lymphoma|DLBCL	http://purl.obolibrary.org/obo/MONDO_0018905	Orphanet:544|DOID:0050745|UMLS:C0079744|NCIT:C8851|http://identifiers.org/mesh/D016403	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0018904	biolink:Disease	primary membranoproliferative glomerulonephritis	A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded.	Orphanet:54370|MedDRA:10018370|GARD:0011982|ICD9:583.2|UMLS:C0017662|SCTID:80321008	mondo.json	membranoproliferative glomerulonephritis|MPGN|Mesangiocapillary glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0018904	Orphanet:54370	ordo_disease
MONDO:0018901	biolink:Disease	left ventricular noncompaction	Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.	GARD:0010985|Orphanet:54260|OMIMPS:604169|UMLS:C1960469|UMLS:C4021133|DOID:0060480|NCIT:C99544	mondo.json	LVNC|left ventricular noncompaction (disease)|left ventricular non-compaction cardiomyopathy|left ventricular hypertrabeculation|Lv non-compaction syndrome|spongy myocardium|left ventricular non-compaction syndrome	http://purl.obolibrary.org/obo/MONDO_0018901	UMLS:C4021133|https://omim.org/phenotypicSeries/PS604169|Orphanet:54260|NCIT:C99544|DOID:0060480|UMLS:C1960469	ordo_disease|gard_rare
MONDO:0018900	biolink:Disease	corticosteroid-sensitive aseptic abscess syndrome	Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders.	SCTID:720751000|GARD:0010946|Orphanet:54251|UMLS:CN205271	mondo.json	aseptic abscesses syndrome|aseptic systemic abscesses|corticosteroid-sensitive aseptic abscesses|disseminated aseptic abscesses	http://purl.obolibrary.org/obo/MONDO_0018900	Orphanet:54251|UMLS:CN205271|http://identifiers.org/snomedct/720751000	ordo_disease
UBERON:0003557	biolink:AnatomicalEntity	midbrain arachnoid mater			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003557		
UBERON:0003558	biolink:AnatomicalEntity	diencephalon arachnoid mater			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003558		
MONDO:0006909	biolink:Disease	pituitary dwarfism	Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone.	UMLS:C0013338|MESH:D004393|EFO:1001109|ICD9:253.3|SCTID:367460001|MedDRA:10035083	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006909	http://identifiers.org/mesh/D004393|http://identifiers.org/snomedct/367460001|UMLS:C0013338	
UBERON:0003555	biolink:AnatomicalEntity	spinal cord pia mater			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003555		
UBERON:0003556	biolink:AnatomicalEntity	forebrain arachnoid mater			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003556		
MONDO:0006907	biolink:Disease	pilar sheath acanthoma	A benign, small, papular or nodular skin neoplasm that usually arises above the upper lip. It is characterized by an epithelial proliferation with a central cavity. The cavity wall is lined with keratinocytes.	UMLS:C0346005|DOID:4322|SCTID:254693008|EFO:1001107|NCIT:C4468	mondo.json	Infundibuloisthmicoma|Pilar sheath acanthoma|acanthoma of Pilar sheath|acanthoma of the Pilar sheath	http://purl.obolibrary.org/obo/MONDO_0006907	NCIT:C4468|UMLS:C0346005|DOID:4322|http://identifiers.org/snomedct/254693008	
UBERON:0003553	biolink:AnatomicalEntity	diencephalon pia mater			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003553		
MONDO:0006908	biolink:Disease	pituitary apoplexy	A rare, potentially life-threatening disorder caused by acute ischemic infarction or hemorrhage in the pituitary gland. It is most often associated with the presence of a pituitary gland adenoma. Signs and symptoms include headache, vomiting, visual disturbances, and endocrine dysfunction.	SCTID:237701005|EFO:1001108|ICD9:253.8|Orphanet:95613|UMLS:C0032001|DOID:1129|MESH:D010899|MedDRA:10056447|NCIT:C26853	mondo.json	pituitary gland apoplexy	http://purl.obolibrary.org/obo/MONDO_0006908	Orphanet:95613|http://identifiers.org/mesh/D010899|NCIT:C26853|UMLS:C0032001|http://identifiers.org/snomedct/237701005|DOID:1129	ordo_disease
UBERON:0003554	biolink:AnatomicalEntity	hindbrain pia mater			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003554		
MONDO:0006905	biolink:Disease	pigmented spindle cell nevus	A benign, small and slightly elevated brown or black skin lesion with usually well-demarcated borders. It is characterized by the presence of a melanocytic proliferation resulting in the formation of uniform cellular nests. Sometimes the clinical and morphologic features may be difficult to distinguish from melanoma.	MESH:D018331|EFO:1001105|NCIT:C4751|SCTID:254812004	mondo.json	spindle cell Nevus of Reed	http://purl.obolibrary.org/obo/MONDO_0006905	http://identifiers.org/snomedct/254812004|NCIT:C4751|http://identifiers.org/mesh/D018331	
UBERON:0003551	biolink:AnatomicalEntity	midbrain pia mater			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003551		
UBERON:0003552	biolink:AnatomicalEntity	telencephalon pia mater			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003552		
MONDO:0006906	biolink:Disease	obsolete pigmented villonodular synovitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006906		
MONDO:0006925	biolink:Disease	Fusobacteriaceae infectious disease	Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria.	MESH:D045825|EFO:1001126|UMLS:C1258222	mondo.json	Fusobacteriaceae infection|Fusobacteriaceae disease or disorder|Fusobacteriaceae caused disease or disorder|infection, Fusobacteriaceae|infections, Fusobacteriaceae	http://purl.obolibrary.org/obo/MONDO_0006925	http://identifiers.org/mesh/D045825|UMLS:C1258222	
MPATH:608	biolink:NamedThing	abscess	A circumscribed collection of purulent exudate frequently associated with swelling and other signs of inflammation.		mondo.json		http://purl.obolibrary.org/obo/MPATH_608		
FOODON:03412611	biolink:NamedThing	doe (goat)	A female goat		mondo.json	nanny goat	http://purl.obolibrary.org/obo/FOODON_03412611		
MONDO:0006926	biolink:Disease	haemophilus infectious disease	Infections with bacteria of the genus haemophilus.	NCIT:C34654|EFO:1001127|MESH:D006192|SCTID:41659003	mondo.json	infections, Haemophilus|infection, Haemophilus|infection, Hemophilus|Haemophilus disease or disorder|Haemophilus infectious disease|haemophilus infectious disease|infections, Hemophilus|Haemophilus caused disease or disorder|Hemophilus infection|Haemophilus infection|Hemophilus infections	http://purl.obolibrary.org/obo/MONDO_0006926	http://identifiers.org/snomedct/41659003|NCIT:C34654|http://identifiers.org/mesh/D006192	
MPATH:607	biolink:NamedThing	healing and repair structure	Physical entity or structure associated with normal or abnormal tissue healing or repair following extrinsic or intrinsic damage.		mondo.json		http://purl.obolibrary.org/obo/MPATH_607		
MONDO:0006923	biolink:Disease	Bacillaceae infectious disease	Infections with bacteria of the family bacillaceae.	EFO:1001124|UMLS:C0085389|MESH:D016863	mondo.json	infections, Bacillaceae|Bacillaceae caused disease or disorder|infection, Bacillaceae|Bacillaceae disease or disorder|Bacillaceae infection	http://purl.obolibrary.org/obo/MONDO_0006923	UMLS:C0085389|http://identifiers.org/mesh/D016863	
GO:0045260	biolink:NamedThing	plasma membrane proton-transporting ATP synthase complex	A proton-transporting ATP synthase complex found in the plasma membrane. Examples of this component are found in Bacterial species.		mondo.json	hydrogen-transporting ATP synthase|hydrogen-translocating F-type ATPase complex|proton-transporting ATP synthase complex|plasma membrane hydrogen-translocating F-type ATPase complex	http://purl.obolibrary.org/obo/GO_0045260		
MONDO:0006924	biolink:Disease	Bartonellaceae infectious disease	Infections with bacteria of the family bartonellaceae.	EFO:1001125|UMLS:C0004773|MESH:D001476	mondo.json	Bartonellaceae caused disease or disorder|infection, Bartonellaceae|Bartonellaceae disease or disorder|infections, Bartonellaceae|Bartonellaceae infection	http://purl.obolibrary.org/obo/MONDO_0006924	http://identifiers.org/mesh/D001476|UMLS:C0004773	
MONDO:0006921	biolink:Disease	Actinomycetales infectious disease	Infections with bacteria of the order actinomycetales.	UMLS:C0001255|NCIT:C84534|SCTID:721751007|EFO:1001122|SCTID:11817007|ICD9:039.8|ICD9:039.9|MESH:D000193	mondo.json	infections, actinomycetales|actinomycotic infection|actinomycetales disease or disorder|infection, actinomycetales|infection, actinomycete|actinomycetales caused disease or disorder|infections, actinomycete|actinomycete infection|infection caused by actinomycetales|actinomycete infections|actinomycetales infections|actinomycosis|actinomycetales infection|actinomycotic infectious disease	http://purl.obolibrary.org/obo/MONDO_0006921	UMLS:C0001255|http://identifiers.org/mesh/D000193|http://identifiers.org/snomedct/11817007|http://identifiers.org/snomedct/721751007|NCIT:C84534	
UBERON:0003539	biolink:AnatomicalEntity	left lung bronchiole			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003539		
MONDO:0006922	biolink:Disease	Anaplasmataceae infectious disease	Infections with bacteria of the family anaplasmataceae.	SCTID:422167001|EFO:1001123|MESH:D000711	mondo.json	infections, Anaplasmataceae|Haemobartonellosis|Anaplasmataceae disease or disorder|infection, Anaplasmataceae|Anaplasmataceae infection|Anaplasmataceae caused disease or disorder|Haemobartonelloses	http://purl.obolibrary.org/obo/MONDO_0006922	http://identifiers.org/snomedct/422167001|http://identifiers.org/mesh/D000711	
UBERON:0003537	biolink:AnatomicalEntity	left lung alveolar duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003537		
MONDO:0006920	biolink:Disease	prediabetes syndrome	A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes.	EFO:1001121|MESH:D011236|UMLS:C0362046|NCIT:C122685|DOID:11716|MedDRA:10065542	mondo.json	prediabetes|prediabetic state|borderline diabetes	http://purl.obolibrary.org/obo/MONDO_0006920	NCIT:C122685|http://identifiers.org/mesh/D011236|DOID:11716|UMLS:C0362046	
GO:1901999	biolink:NamedThing	homogentisate metabolic process	The chemical reactions and pathways involving homogentisate.		mondo.json	homogentisate metabolism	http://purl.obolibrary.org/obo/GO_1901999		
UBERON:0003538	biolink:AnatomicalEntity	right lung bronchiole			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003538		
MONDO:0043905	biolink:Disease	pneumonitis	An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia.	NCIT:C113159|SCTID:205237003	mondo.json	pneumonitis|inflammation of lung parenchyma|lung parenchyma inflammation	http://purl.obolibrary.org/obo/MONDO_0043905	http://identifiers.org/snomedct/205237003|NCIT:C113159	
MONDO:0043904	biolink:Disease	leishmaniasis, diffuse cutaneous	A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement.	SCTID:38573008|MESH:D016774	mondo.json	leproid leishmaniasis|cutaneous Leishmaniases, diffuse|diffuse cutaneous leishmaniasis|cheloid leishmaniasis|Leishmaniases, diffuse cutaneous|diffuse cutaneous Leishmaniases|lepromatous cutaneous leishmaniasis|dcl - diffuse cutaneous leishmaniasis|cutaneous leishmaniasis, diffuse	http://purl.obolibrary.org/obo/MONDO_0043904	http://identifiers.org/mesh/D016774|http://identifiers.org/snomedct/38573008	
UBERON:0003547	biolink:AnatomicalEntity	brain meninx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003547		
UBERON:0003544	biolink:AnatomicalEntity	brain white matter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003544		
UBERON:0003542	biolink:AnatomicalEntity	right lung respiratory bronchiole			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003542		
MONDO:0006918	biolink:Disease	posterior uveitis	Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis.	EFO:1001119|NCIT:C35111|DOID:12574|Orphanet:280892|SCTID:43363007|MedDRA:10036370|GARD:0004457|UMLS:C0042167|MESH:D015866|SCTID:46627006	mondo.json	uveitis, posterior|chorioretinal region inflammation|inflammation of chorioretinal region	http://purl.obolibrary.org/obo/MONDO_0006918	http://identifiers.org/mesh/D015866|http://identifiers.org/snomedct/43363007|DOID:12574	gard_rare
MONDO:0006919	biolink:Disease	potassium deficiency	A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing polyuria and decreased maximal urinary concentrating ability with secondary polydipsia. (Merck Manual, 16th ed)	MedDRA:10036445|EFO:1001120|MESH:D011191	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006919	http://identifiers.org/mesh/D011191	
UBERON:0003543	biolink:AnatomicalEntity	left lung respiratory bronchiole			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003543		
GO:0070201	biolink:NamedThing	regulation of establishment of protein localization	Any process that modulates the frequency, rate or extent of the directed movement of a protein to a specific location.		mondo.json	regulation of establishment of protein localisation	http://purl.obolibrary.org/obo/GO_0070201		
MONDO:0006916	biolink:Disease	postcholecystectomy syndrome	Abdominal symptoms after removal of the gallbladder. The common postoperative symptoms are often the same as those present before the operation, such as colic, bloating, nausea, and vomiting. There is pain on palpation of the right upper quadrant and sometimes jaundice. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal.	EFO:1001117|ICD9:576.0|DOID:9740|UMLS:C0152099|SCTID:90782003|ICD10CM:K91.5|MESH:D017562	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006916	DOID:9740|UMLS:C0152099|http://identifiers.org/snomedct/90782003|http://identifiers.org/mesh/D017562|http://purl.bioontology.org/ontology/ICD10CM/K91.5	
UBERON:0003540	biolink:AnatomicalEntity	right lung terminal bronchiole			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003540		
UBERON:0003541	biolink:AnatomicalEntity	left lung terminal bronchiole			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003541		
MONDO:0006917	biolink:Disease	posterior cerebral artery infarction	Necrosis induced by ischemia in the posterior cerebral artery distribution system which supplies portions of the brain stem; the thalamus; temporal lobe, and occipital lobe. Depending on the size and location of infarction, clinical features include olfaction disorders and visual problems (agnosia; alexia; hemianopsia).	UMLS:C0752132|EFO:1001118|MESH:D020762|DOID:3821	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006917	http://identifiers.org/mesh/D020762|UMLS:C0752132|DOID:3821	
SO:0002300	biolink:SequenceFeature	unit_of_gene_expression	Transcription units or transcribed coding sequences.		mondo.json	unit of gene expression	http://purl.obolibrary.org/obo/SO_0002300		
MONDO:0004317	biolink:Disease	multiple spinal canal and spinal cord meningioma	Multiple meningiomas that arises from the spinal meninges.	UMLS:C1334825|NCIT:C5275|DOID:7646	mondo.json	multiple spinal canal and spinal cord Meningiomas|multiple intraspinal Meningiomas|multiple Meningiomas of spinal canal and spinal cord|multiple meningiomas of the spinal canal and spinal cord	http://purl.obolibrary.org/obo/MONDO_0004317	NCIT:C5275|DOID:7646|UMLS:C1334825	
UBERON:0015593	biolink:AnatomicalEntity	frontal gyrus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015593		
MONDO:0004316	biolink:Disease	acantholytic squamous cell skin carcinoma	A histologic variant of squamous cell carcinoma that arises from the skin. It is characterized by loosening of the intercellular bridges between the malignant cells which results in acantholysis.	DOID:7643|UMLS:C0345979|SCTID:254654004|NCIT:C4460	mondo.json	acantholytic squamous cell carcinoma of skin|acantholytic squamous cell skin carcinoma|acantholytic squamous cell carcinoma of the skin	http://purl.obolibrary.org/obo/MONDO_0004316	NCIT:C4460|http://identifiers.org/snomedct/254654004|DOID:7643|UMLS:C0345979	
MONDO:0006978	biolink:Disease	splenic infarction	Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)	SCTID:22996003|DOID:2533|UMLS:C0037998|GARD:0009973|EFO:1001190|MedDRA:10041648|ICD10CM:D73.5|ICD9:289.59|MESH:D013159	mondo.json	splenic infarcts|infarct of the spleen|splenic infarct|splenic infarction	http://purl.obolibrary.org/obo/MONDO_0006978	UMLS:C0037998|http://identifiers.org/snomedct/22996003|DOID:2533|http://purl.bioontology.org/ontology/ICD10CM/D73.5|http://identifiers.org/mesh/D013159	
MONDO:0004319	biolink:Disease	hypercalcemic type ovarian small cell carcinoma	An undifferentiated small cell carcinoma that arises from the ovary and is associated with hypercalcemia. Electron microscopic studies show neurosecretory granules are either absent or, when present, are in small numbers.	NCIT:C40439|DOID:7651|UMLS:C1518736	mondo.json	SCCOHT|ovarian small cell carcinoma, hypercalcemic type	http://purl.obolibrary.org/obo/MONDO_0004319	UMLS:C1518736|DOID:7651|NCIT:C40439	
GO:0045271	biolink:NamedThing	respiratory chain complex I	Respiratory chain complex I is an enzyme of the respiratory chain. It consists of several polypeptide chains and is L-shaped, with a horizontal arm lying in the membrane and a vertical arm that projects into the matrix. The electrons of NADH enter the chain at this complex.		mondo.json	electron transport complex I|NADH-Q oxidoreductase complex|NADH dehydrogenase (ubiquinone) complex|NADH dehydrogenase complex (ubiquinone)	http://purl.obolibrary.org/obo/GO_0045271		
MONDO:0004318	biolink:Disease	pulmonary type ovarian small cell carcinoma	An aggressive small cell neuroendocrine carcinoma that arises from the ovary. Morphologically, it resembles the small cell carcinoma that arises from the lung.	UMLS:C1518737|DOID:7650|NCIT:C40440	mondo.json	ovarian small cell carcinoma, pulmonary type	http://purl.obolibrary.org/obo/MONDO_0004318	UMLS:C1518737|DOID:7650|NCIT:C40440	
GO:0045272	biolink:NamedThing	plasma membrane respiratory chain complex I	A subcomplex of the respiratory chain located in the plasma membrane. It contains about 25 different polypeptide subunits, including NADH dehydrogenase (ubiquinone), flavin mononucleotide and several different iron-sulfur clusters containing non-heme iron. The iron undergoes oxidation-reduction between Fe(II) and Fe(III), and catalyzes proton translocation linked to the oxidation of NADH by ubiquinone. Examples of this component are found in bacterial species.		mondo.json	NADH dehydrogenase (ubiquinone) complex|respiratory chain complex I	http://purl.obolibrary.org/obo/GO_0045272		
MONDO:0006979	biolink:Disease	steatitis	A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of 'ceroid' pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed)	DOID:4025|EFO:1001191|SCTID:33882007|UMLS:C0038235|MESH:D013231	mondo.json	Nutritional Panniculitis|Nutritional Steatitis|Yellow fat disease	http://purl.obolibrary.org/obo/MONDO_0006979	http://identifiers.org/snomedct/33882007|http://identifiers.org/mesh/D013231|UMLS:C0038235	
MONDO:0006976	biolink:Disease	somatostatinoma	A rare, usually malignant neuroendocrine tumor arizing from delta cells. This neoplasm produces large amounts of somatostatin, which may result in a syndrome characterized by diarrhea, steatorrhea, weight loss, and gastric hyposecretion. Sixty percent are found in the pancreas and 40% in the duodenum or jejunum. The peak incidence occurs between 40 and 60 years of age; women are affected more than men by 2:1.	MESH:D013005|ICDO:8156/1|ICD9:235.5|Orphanet:97283|NCIT:C3379|UMLS:C0037661|SCTID:253006001|GARD:0004900|DOID:4430|EFO:1001187|MedDRA:10041329	mondo.json	ampullary somatostatinoma|carcinoid somatostatinoma|somatostatin-producing tumor|somatostatin cell neoplasm|tumor of the Delta cells|somatostatin-producing NET|tumor of Delta cells|somatostatin producing tumor|Somatomedin-secreting carcinoid|malignant islet cell tumor|somatostatinoma|somatostatin-producing neuroendocrine tumor|somatostatin cell tumor|somatostatin cell tumour|Delta cell tumor|somatostatin-secreting pancreatic neoplasm	http://purl.obolibrary.org/obo/MONDO_0006976	http://identifiers.org/snomedct/253006001|NCIT:C3379|http://identifiers.org/mesh/D013005|Orphanet:97283|DOID:4430|UMLS:C0037661	gard_rare|ordo_disease
MONDO:0004313	biolink:Disease	gasserian ganglion meningioma	A meningioma that affects the trigeminal ganglion.	NCIT:C6779|UMLS:C1333760|DOID:7635	mondo.json	Gasserian meningioma|meningioma (disease) of gasserian ganglion|meningioma of the Gasserian ganglion|meningioma of Gasserian ganglion|gasserian ganglion meningioma (disease)	http://purl.obolibrary.org/obo/MONDO_0004313	NCIT:C6779|DOID:7635|UMLS:C1333760	
MONDO:0006977	biolink:Disease	spermatocele	A benign testicular cyst that is located in the epididymis, and which contains serous fluid, lymphocytes, spermatozoa, and debris.	ICD9:608.1|MedDRA:10041490|UMLS:C0037859|MESH:D013088|SCTID:49263001|DOID:11997|EFO:1001189|ICD10CM:N43.4	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006977	DOID:11997|http://identifiers.org/mesh/D013088|http://purl.bioontology.org/ontology/ICD10CM/N43.4|http://identifiers.org/snomedct/49263001|UMLS:C0037859	
MONDO:0004312	biolink:Disease	suprasellar meningioma	A meningioma that affects the suprasellar region.	NCIT:C6776|DOID:7634|UMLS:C1336535	mondo.json	sella turcica meningioma (disease)|meningioma (disease) of sella turcica	http://purl.obolibrary.org/obo/MONDO_0004312	NCIT:C6776|UMLS:C1336535|DOID:7634	
MONDO:0006974	biolink:Disease	small cell sarcoma	A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm.	DOID:3098|EFO:1001184|MESH:D018228|UMLS:C0206652|NCIT:C3746|ICDO:8803/3	mondo.json	small cell sarcomas|small cell sarcoma	http://purl.obolibrary.org/obo/MONDO_0006974	NCIT:C3746|DOID:3098|UMLS:C0206652|http://identifiers.org/mesh/D018228	
MONDO:0004315	biolink:Disease	cholangiolocellular carcinoma	An intrahepatic cholangiocarcinoma that arises from the canals of Hering.	DOID:7642|NCIT:C41617|UMLS:C1516490	mondo.json	CLC|intralobular bile duct cholangiocarcinoma|cholangiolocellular carcinoma|cholangiocarcinoma of intralobular bile duct	http://purl.obolibrary.org/obo/MONDO_0004315	UMLS:C1516490|NCIT:C41617|DOID:7642	
MONDO:0006975	biolink:Disease	smooth muscle tumor	A benign or malignant myomatous neoplasm arising from smooth muscle.	EFO:1001185|NCIT:C3751|MESH:D018235|UMLS:C0206658|DOID:4310	mondo.json	neoplasm of smooth muscle|smooth muscle tumor|tumor of the smooth muscle|tumor of smooth muscle|neoplasm of the smooth muscle|smooth muscle neoplasm	http://purl.obolibrary.org/obo/MONDO_0006975	http://identifiers.org/mesh/D018235|NCIT:C3751|DOID:4310|UMLS:C0206658	
MONDO:0004314	biolink:Disease	malignant cutaneous granular cell skin tumor		DOID:7639|UMLS:C1334575|NCIT:C5614	mondo.json	malignant granular cell tumor of skin|malignant cutaneous granular cell tumor|malignant granular cell tumor of the skin|malignant granular cell skin neoplasm|malignant granular cell neoplasm of skin|malignant granular cell neoplasm of the skin|malignant granular cell skin tumor	http://purl.obolibrary.org/obo/MONDO_0004314	NCIT:C5614|UMLS:C1334575|DOID:7639	
MONDO:0006972	biolink:Disease	silo filler disease	A form of alveolitis or pneumonitis caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage.	EFO:1001182|DOID:4374|SCTID:61233003|MESH:D012832|UMLS:C0037120	mondo.json	silo-fillers' disease|silo filler disease|silo filler's disease	http://purl.obolibrary.org/obo/MONDO_0006972	UMLS:C0037120|DOID:4374|http://identifiers.org/snomedct/61233003|http://identifiers.org/mesh/D012832	
MONDO:0006973	biolink:Disease	skin appendage carcinoma	A carcinoma arising from the sebaceous glands, sweat glands, or the hair follicles. Representative examples include sebaceous carcinoma, apocrine carcinoma, eccrine carcinoma, and pilomatrical carcinoma.	EFO:1001183|NCIT:C3775|ONCOTREE:SKAC|MESH:D018280|UMLS:C0206697|ICDO:8390/3|MedDRA:10040798	mondo.json	skin appendage carcinoma|skin adnexal carcinoma|carcinoma of adnexa|carcinoma of skin appendage|carcinoma of cutaneous appendage|cutaneous appendage carcinoma|adnexal carcinoma|carcinoma, adnexal, malignant	http://purl.obolibrary.org/obo/MONDO_0006973	NCIT:C3775|UMLS:C0206697|http://identifiers.org/mesh/D018280	
MONDO:0004311	biolink:Disease	carcinoma of Cowper glands	A carcinoma that involves the bulbo-urethral gland.	DOID:7632|UMLS:C1516284|NCIT:C39864	mondo.json	carcinoma of Cowper glands|carcinoma of bulbo-urethral gland|Cowper gland carcinoma|bulbo-urethral gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0004311	NCIT:C39864|UMLS:C1516284|DOID:7632	
MONDO:0006970	biolink:Disease	sialolithiasis	A concretion in the salivary gland.	EFO:1001180|MESH:D015494|ICD9:527.5|ICD10CM:K11.5|DOID:12905|MedDRA:10040631|UMLS:C0036091|SCTID:28826002	mondo.json	sialolith|Stone of salivary gland or duct|salivary gland Stone	http://purl.obolibrary.org/obo/MONDO_0006970	DOID:12905|http://purl.bioontology.org/ontology/ICD10CM/K11.5|http://identifiers.org/mesh/D015494|UMLS:C0036091|http://identifiers.org/snomedct/28826002	
MONDO:0006971	biolink:Disease	sigmoid neoplasm	Tumors or cancer of the sigmoid colon.	SCTID:126845000|EFO:1001181|MedDRA:10026456|MESH:D012811|UMLS:C0037073|DOID:1896|ICD9:153.3	mondo.json	sigmoid colon neoplasm|tumor of sigmoid colon|sigmoid colon neoplasm (disease)|neoplasm of sigmoid colon|sigmoid colon tumor	http://purl.obolibrary.org/obo/MONDO_0006971	DOID:1896|http://identifiers.org/snomedct/126845000|UMLS:C0037073|http://identifiers.org/mesh/D012811	
MONDO:0004310	biolink:Disease	adult embryonal tumor with multilayered rosettes, c19mc-altered	An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults.	DOID:7631|NCIT:C8290|UMLS:C0281330	mondo.json	adult embryonal tumor with multilayered rosettes, C19MC-altered|adult ependymoblastoma|ependymoblastoma of adults|embryonal tumor with multilayered rosettes, C19MC-altered	http://purl.obolibrary.org/obo/MONDO_0004310	DOID:7631|NCIT:C8290|UMLS:C0281330	
GO:0045275	biolink:NamedThing	respiratory chain complex III	A protein complex that transfers electrons from ubiquinol to cytochrome c and translocates two protons across a membrane. The complex contains a core structure of three catalytic subunits: cytochrome b, the Rieske iron sulfur protein (ISP), and cytochrome c1, which are arranged in an integral membrane-bound dimeric complex; additional subunits are present, and vary among different species.		mondo.json	coenzyme Q-cytochrome c reductase complex|CoQH2-cytochrome c reductase complex|coenzyme Q-cytochrome c oxidoreductase complex|electron transport complex III|cytochrome bc1 complex|ubiquinol-cytochrome-c reductase complex|ubiquinol-cytochrome c oxidoreductase complex|cytochrome bc(1) complex|complex III	http://purl.obolibrary.org/obo/GO_0045275		
GO:0045276	biolink:NamedThing	plasma membrane respiratory chain complex III	A part of the respiratory chain located in the plasma membrane, containing about 10 polypeptide subunits including four redox centers: cytochrome b/b6, cytochrome c1 and an 2Fe-2S cluster. Catalyzes the oxidation of ubiquinol by oxidized cytochrome c1. Examples of this component are found in bacterial species.		mondo.json	plasma membrane ubiquinol-cytochrome-c reductase complex|respiratory chain complex III|plasma membrane coenzyme Q-cytochrome c oxidoreductase complex|ubiquinol-cytochrome-c reductase complex|ubiquinol-cytochrome c oxidoreductase complex|plasma membrane coenzyme Q-cytochrome c reductase complex|plasma membrane cytochrome bc1 complex	http://purl.obolibrary.org/obo/GO_0045276		
MONDO:0018969	biolink:Disease	craniorachischisis	Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.	HP:0030770|GARD:0010504|Orphanet:63260|NCIT:C98907|SCTID:32219008|UMLS:C0152426|MedDRA:10011321|ICD9:740.1	mondo.json	cranial rachischisis|craniorachischisis|craniorachischisis (disease)	http://purl.obolibrary.org/obo/MONDO_0018969	NCIT:C98907|Orphanet:63260|UMLS:C0152426|http://identifiers.org/snomedct/32219008	ordo_morphological_anomaly
MONDO:0016306	biolink:Disease	Niemann-Pick disease type C, severe perinatal form		Orphanet:216972|UMLS:CN201112	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016306	Orphanet:216972|UMLS:CN201112	ordo_clinical_subtype
MONDO:0018968	biolink:Disease	iniencephaly	Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.	SCTID:2438005|NCIT:C124549|GARD:0010506|ICD10CM:Q00.2|UMLS:C0152234|Orphanet:63259|MedDRA:10022034|ICD9:740.2	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018968	http://purl.bioontology.org/ontology/ICD10CM/Q00.2|NCIT:C124549|Orphanet:63259|UMLS:C0152234|http://identifiers.org/snomedct/2438005	ordo_morphological_anomaly|gard_rare
MONDO:0016307	biolink:Disease	Niemann-Pick disease type C, severe early infantile neurologic onset		Orphanet:216975|UMLS:CN201113	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016307	UMLS:CN201113|Orphanet:216975	ordo_clinical_subtype
MONDO:0016308	biolink:Disease	Niemann-Pick disease type C, late infantile neurologic onset		UMLS:CN201114|Orphanet:216978	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016308	Orphanet:216978|UMLS:CN201114	ordo_clinical_subtype
MONDO:0016309	biolink:Disease	Niemann-Pick disease type C, juvenile neurologic onset		Orphanet:216981|UMLS:CN201115	mondo.json	Niemann-Pick disease type C, classic form	http://purl.obolibrary.org/obo/MONDO_0016309	UMLS:CN201115|Orphanet:216981	ordo_clinical_subtype
MONDO:0018965	biolink:Disease	Alport syndrome	A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities.	Orphanet:63|DOID:10983|MESH:D009394|ICD10CM:Q87.81|OMIMPS:301050|NCIT:C34842|MedDRA:10001843|UMLS:C1567741	mondo.json	hereditary nephritis|Alport syndrome|Alport's syndrome|Alport deafness-nephropathy	http://purl.obolibrary.org/obo/MONDO_0018965	http://purl.bioontology.org/ontology/ICD10CM/Q87.81|Orphanet:63|DOID:10983|UMLS:C1567741|NCIT:C34842|https://omim.org/phenotypicSeries/PS301050	ordo_disease
MONDO:0016302	biolink:Disease	isolated congenitally uncorrected transposition of the great arteries		Orphanet:216718	mondo.json	isolated congenitally uncorrected transposition of the great vessels	http://purl.obolibrary.org/obo/MONDO_0016302	Orphanet:216718	ordo_clinical_subtype
MONDO:0016303	biolink:Disease	congenitally uncorrected transposition of the great arteries with cardiac malformation		Orphanet:216729	mondo.json	congenitally uncorrected transposition of the great vessels with cardiac malformation|TGA with cardiac malformation	http://purl.obolibrary.org/obo/MONDO_0016303	Orphanet:216729	ordo_clinical_subtype
MONDO:0018964	biolink:Disease	homocystinuria without methylmalonic aciduria	Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).	SCTID:721225009|UMLS:C4303479|OMIM:277410|Orphanet:622	mondo.json	methylcobalamin deficiency|functional methionine synthase deficiency|homocystinuria without methylmalonic aciduria	http://purl.obolibrary.org/obo/MONDO_0018964	Orphanet:622|http://identifiers.org/snomedct/721225009|UMLS:C4303479	ordo_disease
MONDO:0016304	biolink:Disease	classic pantothenate kinase-associated neurodegeneration		UMLS:CN201109|Orphanet:216866	mondo.json	PKAN, classic form|neurodegeneration with brain iron accumulation type 1, classic form|NBIA1, classic form	http://purl.obolibrary.org/obo/MONDO_0016304	Orphanet:216866|UMLS:CN201109	ordo_clinical_subtype
MONDO:0018967	biolink:Disease	short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia		Orphanet:632	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018967	Orphanet:632	ordo_clinical_subtype
MONDO:0018966	biolink:Disease	obsolete isolated growth hormone deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018966		
MONDO:0016305	biolink:Disease	atypical pantothenate kinase-associated neurodegeneration		UMLS:CN201110|Orphanet:216873	mondo.json	neurodegeneration with brain iron accumulation type 1, atypical form|PKAN, atypical form|NBIA1, atypical form	http://purl.obolibrary.org/obo/MONDO_0016305	Orphanet:216873|UMLS:CN201110	ordo_clinical_subtype
MONDO:0018961	biolink:Disease	familial melanoma	Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.	UMLS:C2314896|GARD:0003460|NCIT:C8498|Orphanet:618|DOID:6846	mondo.json	hereditary melanoma (disease)	http://purl.obolibrary.org/obo/MONDO_0018961	DOID:6846|NCIT:C8498|Orphanet:618|UMLS:C2314896	gard_rare|ordo_disease
MONDO:0018960	biolink:Disease	congenital primary megaureter	Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing.	GARD:0001492|GARD:0000219|SCTID:717459000|Orphanet:617	mondo.json	congenital megalo-ureter|congenital giant megaureter|congenital primary megalo-ureter|CGM	http://purl.obolibrary.org/obo/MONDO_0018960	http://identifiers.org/snomedct/717459000|Orphanet:617	ordo_morphological_anomaly|gard_rare
MONDO:0018963	biolink:Disease	hereditary methemoglobinemia	Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present.	SCTID:267550008|NCIT:C98898|UMLS:C0272087|GARD:0002659|MESH:C580280|Orphanet:621	mondo.json	autosomal recessive methemoglobinemia|hereditary methemoglobinemia|congenital methemoglobinemia	http://purl.obolibrary.org/obo/MONDO_0018963	http://identifiers.org/snomedct/267550008|NCIT:C98898|UMLS:C0272087|Orphanet:621|http://identifiers.org/mesh/C580280	ordo_disease
MONDO:0016300	biolink:Disease	obsolete transposition of the great arteries			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016300		
MONDO:0016301	biolink:Disease	congenitally corrected transposition of the great arteries	Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations.	UMLS:C3274488|SCTID:83799000|MESH:D000080041|Orphanet:216694|ICD9:745.12|GARD:0001544|NCIT:C98902|MedDRA:10011120	mondo.json	levo-transposition of the great vessels|transposition of the great arteries, congenitally corrected|L-transposition of the great arteries|ventricular inversion|transposition of the great vessels, congenitally corrected|discordant ventriculoarterial and atrioventricular connections|L-transposition of the great vessels|Double discordance|ventriculoarterial and atrioventricular discordance|levo-transposition of the great arteries|congenitally corrected transposition of the great vessels	http://purl.obolibrary.org/obo/MONDO_0016301	NCIT:C98902|http://identifiers.org/mesh/D000080041|UMLS:C3274488|Orphanet:216694|http://identifiers.org/snomedct/83799000	ordo_morphological_anomaly|gard_rare
MONDO:0018962	biolink:Disease	common mesentery		UMLS:C0266235|SCTID:52159006|Orphanet:620	mondo.json	universal mesentery	http://purl.obolibrary.org/obo/MONDO_0018962	UMLS:C0266235|Orphanet:620|http://identifiers.org/snomedct/52159006	ordo_morphological_anomaly
MONDO:0004309	biolink:Disease	sarcomatosis	The occurrence of several sarcomas in different anatomic locations.	DOID:7615|ICDO:8800/9|UMLS:C0334451|NCIT:C4243	mondo.json	sarcomatosis NOS (morphologic abnormality)|sarcomatosis (morphologic abnormality)|sarcomatosis	http://purl.obolibrary.org/obo/MONDO_0004309	NCIT:C4243|UMLS:C0334451|DOID:7615	
MPATH:603	biolink:NamedThing	pathological anatomical entity	Anatomically located instance of pathological response or entity.		mondo.json		http://purl.obolibrary.org/obo/MPATH_603		
MONDO:0004328	biolink:Disease	maxillary sinus adenocarcinoma	An adenocarcinoma that arises from the maxillary sinus. It is classified as intestinal-type or non-intestinal-type adenocarcinoma. Nasal obstruction and epistaxis are the presenting signs.	SCTID:707339009|NCIT:C6240|UMLS:C1334642|DOID:7684	mondo.json	adenocarcinoma of maxillary sinus|maxillary sinus adenocarcinoma|adenocarcinoma of the maxillary sinus	http://purl.obolibrary.org/obo/MONDO_0004328	http://identifiers.org/snomedct/707339009|NCIT:C6240|UMLS:C1334642|DOID:7684	
MONDO:0004327	biolink:Disease	sphenoid sinus Schneiderian papilloma	A papilloma that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It is classified as inverted papilloma and oncocytic papilloma.	NCIT:C6838|UMLS:C1336038|DOID:7679	mondo.json	Schneiderian papilloma of the sphenoid sinus|Schneiderian papilloma of sphenoid sinus|sphenoid sinus Schneiderian papilloma	http://purl.obolibrary.org/obo/MONDO_0004327	UMLS:C1336038|NCIT:C6838|DOID:7679	
MONDO:0006989	biolink:Disease	suppurative periapical periodontitis	Localized collection of pus in the tissues that enclose the root of a tooth.	MESH:D010482|UMLS:C0031024|DOID:2562|EFO:1001202|NCIT:C34913	mondo.json	periapical dental abscess|apical abscess|suppurative apical periodontitis|periapical abscess|dentoalveolar abscess	http://purl.obolibrary.org/obo/MONDO_0006989	http://identifiers.org/mesh/D010482|DOID:2562|UMLS:C0031024|NCIT:C34913	
MONDO:0004329	biolink:Disease	pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia	A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that exhibit loss of polarity, nuclear stratification, hyperchromasia, and pleomorphism. There is severe architectural atypia and frequent mitotic figures present.	ICDO:8453/2|UMLS:C1518873|DOID:7685|NCIT:C41251	mondo.json	pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia|pancreatic non-invasive intraductal papillary-mucinous carcinoma|pancreatic intraductal papillary mucinous neoplasm with high grade dysplasia	http://purl.obolibrary.org/obo/MONDO_0004329	UMLS:C1518873|NCIT:C41251|DOID:7685	
MONDO:0004324	biolink:Disease	testicular fibroma	A benign neoplasm that arises from the testis and is characterized by the presence of fusiform cells and collagenization.	DOID:7675|UMLS:C1515282|NCIT:C39951	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004324	NCIT:C39951|UMLS:C1515282|DOID:7675	
MONDO:0006987	biolink:Disease	subvalvular aortic stenosis	An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects.	DOID:5805|GARD:0005052|MedDRA:10042431|SCTID:204368006|UMLS:C0340375|EFO:1001199|MESH:D001020|OMIM:185500	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006987	UMLS:C0340375|http://identifiers.org/mesh/D001020|DOID:5805|http://identifiers.org/snomedct/204368006	gard_rare
MONDO:0006988	biolink:Disease	sulfhemoglobinemia	A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)	DOID:12451|MESH:D013436|EFO:1001200|SCTID:32117000|UMLS:C0038732|MedDRA:10042481	mondo.json	Sulfemoglobinemia	http://purl.obolibrary.org/obo/MONDO_0006988	DOID:12451|http://identifiers.org/snomedct/32117000|http://identifiers.org/mesh/D013436|UMLS:C0038732	
MONDO:0004323	biolink:Disease	muscular atrophy	The loss of muscle tissue due to inactivity or disease.	SCTID:88092000|DOID:767|MESH:D009133|ICD9:728.2	mondo.json	wasting - muscle|muscle wasting|amyotrophia	http://purl.obolibrary.org/obo/MONDO_0004323	http://identifiers.org/mesh/D009133|DOID:767|http://identifiers.org/snomedct/88092000	
MONDO:0004326	biolink:Disease	sphenoid sinus inverted papilloma	A benign neoplasm that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.	UMLS:C1336037|NCIT:C6841|DOID:7678	mondo.json	sphenoidal sinus inverted papilloma|inverted papilloma of the sphenoid sinus|inverted papilloma of sphenoid sinus	http://purl.obolibrary.org/obo/MONDO_0004326	UMLS:C1336037|NCIT:C6841|DOID:7678	
MONDO:0006985	biolink:Disease	obsolete subependymoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006985		
MONDO:0006986	biolink:Disease	substernal goiter	An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms.	MESH:D006045|DOID:13200|UMLS:C0018024|SCTID:66392007|EFO:1001198	mondo.json	retrosternal thyroid goiter	http://purl.obolibrary.org/obo/MONDO_0006986	http://identifiers.org/snomedct/66392007|DOID:13200|http://identifiers.org/mesh/D006045|UMLS:C0018024	
MONDO:0004325	biolink:Disease	testicular thecoma	A rare benign tumor that arises from the testis and is characterized by the presence of lipid-rich neoplastic spindle cells.	DOID:7676|UMLS:C1515299|NCIT:C39952	mondo.json	thecoma of testis|testis thecoma	http://purl.obolibrary.org/obo/MONDO_0004325	NCIT:C39952|UMLS:C1515299|DOID:7676	
MONDO:0006983	biolink:Disease	subclavian steal syndrome	An uncommon neurovascular condition seen with exertion of the upper extremity. It is usually caused by atherosclerotic stenosis or occlusion of the subclavian artery proximal to the origin of the vertebral artery. In order to maintain adequate perfusion of the arm during exercise on the affected side, the narrowed subclavian artery siphons off retrograde blood flow from the ipsilateral vertebral artery. This is possible due to lower blood pressure distal to the site of narrowing and collateral circulation through the circle of Willis. Affected individuals may remain asymptomatic until the oxygen demand generated from upper extremity exercise requires a large enough compensatory volume of blood to be diverted from the vertebral artery to provoke vertebrobasilar insufficiency and its accompanying neurological sequelae. Presenting clinical signs may include pain or numbness of the affected arm (with diminished pulses and a brachial systolic blood pressure differential of greater than 20 mmHg as compared to the opposite arm), vertigo, tinnitus, dysarthria, diplopia and syncope. Notably, unlike cerebral infarction, the clinical course does not lead to chronic neurologic disability. Prognosis for recovery of normal anterograde circulation is favorable following endovascular or surgical intervention.	DOID:13002|UMLS:C0038531|MESH:D013349|SCTID:15258001|ICD9:435.2|EFO:1001195|NCIT:C35044|MedDRA:10042335	mondo.json	subclavian steal phenomenon|subclavian steal steno-occlusive disease|subclavian artery stenosis	http://purl.obolibrary.org/obo/MONDO_0006983	NCIT:C35044|http://identifiers.org/mesh/D013349|UMLS:C0038531|http://identifiers.org/snomedct/15258001|DOID:13002	
MONDO:0004320	biolink:Disease	adult infiltrating astrocytic neoplasm		UMLS:C0281329|NCIT:C8289|DOID:7656	mondo.json	adult infiltrating astrocytoma|adult infiltrating astrocytic tumor|adult infiltrating astrocytic neoplasm	http://purl.obolibrary.org/obo/MONDO_0004320	DOID:7656|NCIT:C8289|UMLS:C0281329	
MONDO:0006984	biolink:Disease	subdural empyema	An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the dura mater and the outer surface of the arachnoid.	MESH:D013354|UMLS:C0038539|SCTID:37660004|MedDRA:10042360|EFO:1001196|DOID:11389	mondo.json	subdural abscess	http://purl.obolibrary.org/obo/MONDO_0006984	http://identifiers.org/snomedct/37660004|http://identifiers.org/mesh/D013354|UMLS:C0038539|DOID:11389	
MONDO:0006981	biolink:Disease	subacute bacterial endocarditis	Subacute inflammation of the endocardium. Streptococcus viridans is the usual etiologic agent of subacute bacterial endocarditis. The distinction between "acute" and "subacute" endocarditis has traditionally been made based on the pathogenic organism and clinical presentation.	SCTID:73774007|MESH:D004698|NCIT:C34583|MedDRA:10042271|UMLS:C0014122|DOID:4562|EFO:1001193	mondo.json	SBE|SBE - Subacute bacterial endocarditis|Subacute bacterial endocarditis|endocarditis lenta|Subacute endocarditis, lenta	http://purl.obolibrary.org/obo/MONDO_0006981	http://identifiers.org/snomedct/73774007|http://identifiers.org/mesh/D004698|UMLS:C0014122|NCIT:C34583|DOID:4562	
MONDO:0004322	biolink:Disease	non-gestational ovarian choriocarcinoma	A malignant germ cell tumor that arises from the ovary and is composed of cytotrophoblasts, syncytiotrophoblasts, and extravillous trophoblasts. The prognosis is less favorable than gestational choriocarcinoma.	NCIT:C39991|DOID:7665|UMLS:C1518355	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004322	NCIT:C39991|DOID:7665|UMLS:C1518355	
MONDO:0006982	biolink:Disease	subacute thyroiditis	Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function.	UMLS:C0040149|MedDRA:10042298|DOID:7165|MESH:D013968|ICD9:245.1|ICD10CM:E06.1|SCTID:428041004|EFO:1001194|NCIT:C35828	mondo.json	Subacute granulomatous thyroiditis|granulomatous thyroiditis|De Quervain's thyroiditis|DeQuervain thyroiditis|de Quervain's thyroiditis|De Quervain thyroiditis|giant-cell thyroiditis|Subacute thyroiditis	http://purl.obolibrary.org/obo/MONDO_0006982	DOID:7165|http://purl.bioontology.org/ontology/ICD10CM/E06.1|NCIT:C35828|http://identifiers.org/mesh/D013968|UMLS:C0040149|http://identifiers.org/snomedct/428041004	
MONDO:0004321	biolink:Disease	endometrial mixed adenocarcinoma	An adenocarcinoma that arises from the endometrium and is characterized by the presence of both type I and type II endometrial adenocarcinoma components. The minor component constitutes at least 5% of the entire tumor.	NCIT:C40153|UMLS:C1516856|DOID:7664	mondo.json	endometrial mixed adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004321	NCIT:C40153|UMLS:C1516856|DOID:7664	
MONDO:0006980	biolink:Disease	struma ovarii	An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue. The aberrant thyroid tissue shows morphologic changes identical to thyroid adenoma or carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or Meigs syndrome (ascites and pleural effusion).	NCIT:C7468|MESH:D013330|ICDO:9090/0|UMLS:C0038478|DOID:2640|EFO:1001192	mondo.json	struma ovarii NOS (morphologic abnormality)|struma ovarii (morphologic abnormality)|struma ovarii	http://purl.obolibrary.org/obo/MONDO_0006980	http://identifiers.org/mesh/D013330|UMLS:C0038478|NCIT:C7468|DOID:2640	
UBERON:2001364	biolink:AnatomicalEntity	hemal spine			mondo.json		http://purl.obolibrary.org/obo/UBERON_2001364		
MONDO:0018958	biolink:Disease	nemaline myopathy	Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.	Orphanet:607|GARD:0012033|MESH:D017696|UMLS:C0206157|DOID:3191|OMIMPS:161800|SCTID:75072002	mondo.json	nemaline rod disease|NEM|nemaline body disease|nemaline rod myopathy|Rod-body myopathy|congenital rod disease|Rod body disease|nemaline myopathy|rod myopathy|NM	http://purl.obolibrary.org/obo/MONDO_0018958	DOID:3191|http://identifiers.org/snomedct/75072002|https://omim.org/phenotypicSeries/PS161800|http://identifiers.org/mesh/D017696|UMLS:C0206157|Orphanet:607	ordo_group_of_disorders|disease_grouping
MONDO:0018957	biolink:Disease	pudendal neuralgia	Pudendal neuralgia (PN) is a chronic neuropathic pain, aggravated by sitting and for which no organic cause can be found by imaging studies. It is often associated with pelvic dysfunction.	UMLS:CN226268|MESH:D060545|ICD9:729.2|UMLS:C3178970|GARD:0010713|SCTID:427972000|Orphanet:60039|UMLS:C1997249	mondo.json	pudendal neuralgia by pudendal nerve entrapment|Alcock syndrome|neuralgia of pudendal nerve|pudendal nerve entrapment syndrome|pudendal nerve neuralgia|pudendal algia|Pudendalgia	http://purl.obolibrary.org/obo/MONDO_0018957	UMLS:C1997249|http://identifiers.org/snomedct/427972000|UMLS:CN226268|http://identifiers.org/mesh/D060545|Orphanet:60039|UMLS:C3178970	gard_rare|ordo_disease
MONDO:0018959	biolink:Disease	potassium-aggravated myotonia	Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.	OMIM:608390|SCTID:702355008|Orphanet:612|NCIT:C122788|MESH:C538353|UMLS:C2931826|GARD:0004459	mondo.json	Myotonia Permanens|myotonia congenita, atypical, acetazolamide-responsive|K-aggravated myotonia|Myotonia Congenita, Atypical|Sodium Channel Muscle Disease|PAM|Potassium aggravated myotonia|Myotonia Congenita, Acetazolamide-Responsive|MYOTONIA, POTASSIUM-AGGRAVATED|Laryngospasm, Severe Neonatal Episodic|Myotonia Fluctuans|K+-aggravated myotonia	http://purl.obolibrary.org/obo/MONDO_0018959	Orphanet:612|https://omim.org/entry/608390|UMLS:C2931826|http://identifiers.org/mesh/C538353|NCIT:C122788|http://identifiers.org/snomedct/702355008	ordo_group_of_disorders|disease_grouping
MONDO:0018954	biolink:Disease	Loeys-Dietz syndrome	Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.	OMIMPS:609192|SCTID:446263001|ICD9:759.89|GARD:0010788|MESH:D055947|UMLS:C2697932|Orphanet:60030|DOID:0050466|NCIT:C75006	mondo.json	Loeys-Dietz syndrome|aortic aneurysm syndrome due to TGF-beta receptors anomalies|aortic aneurysm syndrome, Loeys-Dietz type	http://purl.obolibrary.org/obo/MONDO_0018954	https://omim.org/phenotypicSeries/PS609192|UMLS:C2697932|http://identifiers.org/snomedct/446263001|Orphanet:60030|NCIT:C75006|http://identifiers.org/mesh/D055947|DOID:0050466	clingen|ordo_malformation_syndrome
CHEBI:10545	biolink:ChemicalSubstance	electron	Elementary particle not affected by the strong force having a spin 1/2, a negative elementary charge and a rest mass of 0.000548579903(13) u, or 0.51099906(15) MeV.		mondo.json	beta|e(-)|negatron|Elektron|e-|electron|e|beta(-)|beta-particle	http://purl.obolibrary.org/obo/CHEBI_10545		
MONDO:0018953	biolink:Disease	parietal foramina	Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.	DOID:0060285|HP:0002697|MESH:C566826|OMIMPS:168500|SCTID:718099006|Orphanet:60015	mondo.json	catlin marks|enlarged parietal foramina|fenestrae parietales symmetricae|symmetric parietal foramina|hereditary cranium bifidum|parietal foramina|foramina parietalia permagna|Caitlin marks	http://purl.obolibrary.org/obo/MONDO_0018953	DOID:0060285|https://omim.org/phenotypicSeries/PS168500|Orphanet:60015|http://identifiers.org/mesh/C566826|http://identifiers.org/snomedct/718099006	ordo_malformation_syndrome
MONDO:0018956	biolink:Disease	idiopathic bronchiectasis	Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).	Orphanet:60033|SCTID:233629001|UMLS:C0339985	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018956	UMLS:C0339985|http://identifiers.org/snomedct/233629001|Orphanet:60033	ordo_disease
MONDO:0018955	biolink:Disease	recurrent respiratory papillomatosis	Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory infections, pneumonia, dysphagia, stridor, and/or failure to thrive.	GARD:0000111|Orphanet:60032|NCIT:C128637|MESH:C535297|ICD9:078.19|SCTID:472827002|UMLS:C1168198|MedDRA:10059314	mondo.json	respiratory papillomatosis, recurrent|juvenile laryngeal papilloma|juvenile-onset recurrent respiratory papillomatosis (type)|laryngeal papilloma, recurrent|adult-onset recurrent respiratory papillomatosis (type)|JORRP (type)|RRP|AORRP (type)|recurrent respiratory papillomatosis	http://purl.obolibrary.org/obo/MONDO_0018955	UMLS:C1168198|http://identifiers.org/snomedct/472827002|Orphanet:60032|http://identifiers.org/mesh/C535297|NCIT:C128637	ordo_disease|gard_rare
MONDO:0018950	biolink:Disease	3-methylcrotonyl-CoA carboxylase deficiency	3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.	SCTID:13144005|UMLS:CN239165|UMLS:C0268600|NCIT:C98674|GARD:0010954|DOID:0050710|OMIMPS:210200|Orphanet:6	mondo.json	MCC deficiency|Methylcrotonyl-CoA carboxylase deficiency|3MCC deficiency|BMCC deficiency|3-methylcrotonyl-CoA carboxylase deficiency|3-methylcrotonylglycinuria|methylcrotonylglycinuria|MCCD|3-MCC deficiency	http://purl.obolibrary.org/obo/MONDO_0018950	NCIT:C98674|http://identifiers.org/snomedct/13144005|UMLS:C0268600|UMLS:CN239165|Orphanet:6|DOID:0050710|https://omim.org/phenotypicSeries/PS210200	ordo_disease
MONDO:0018952	biolink:Disease	argyria	Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine).	MESH:D001129|MedDRA:10003094|Orphanet:60014	mondo.json	Silver staining	http://purl.obolibrary.org/obo/MONDO_0018952	http://identifiers.org/mesh/D001129|Orphanet:60014	ordo_disease
GO:0070224	biolink:NamedThing	sulfide:quinone oxidoreductase activity	Catalysis of the reaction: H2S (hydrogen sulfide) + a quinone = S0 (sulfane sulfur) + a hydroquinone.		mondo.json	sulfide-quinone reductase activity|sulphide:quinone oxidoreductase activity	http://purl.obolibrary.org/obo/GO_0070224		
MONDO:0018951	biolink:Disease	distal myopathy with vocal cord weakness	Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction.	OMIM:606070|GARD:0001887|UMLS:CN205357|Orphanet:600	mondo.json	VCPDM|distal myopathy 2|vocal cord and pharyngeal distal myopathy|MPD2|MATR3-related distal myopathy	http://purl.obolibrary.org/obo/MONDO_0018951	UMLS:CN205357|Orphanet:600	ordo_disease
MONDO:0006958	biolink:Disease	obsolete SAPHO syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006958		
MONDO:0006959	biolink:Disease	obsolete Schnitzler syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006959		
MONDO:0006956	biolink:Disease	Rickettsiosis	A group of infectious diseases that is caused by Rickettsia.	UMLS:C0035585|ICD9:083.9|SCTID:37246009|MESH:D012282|EFO:1001162|Orphanet:102021|MedDRA:10061495|ICD10CM:A75-A79|NCIT:C34991	mondo.json	Rickettsia infectious disease|Rickettsia caused disease or disorder|Rickettsiae disease|Rickettsia disease or disorder|Rickettsial disease|infection, Rickettsia|Rickettsial infectious disorder|infections, Rickettsia|Rickettsial infectious disease|Rickettsia infection|Rickettsiosis	http://purl.obolibrary.org/obo/MONDO_0006956	http://identifiers.org/mesh/D012282|NCIT:C34991|Orphanet:102021|UMLS:C0035585|http://identifiers.org/snomedct/37246009|http://purl.bioontology.org/ontology/ICD10CM/A75-A79	ordo_group_of_disorders|disease_grouping
MONDO:0006957	biolink:Disease	root caries	Dental caries involving the tooth root, cementum, or cervical area of the tooth.	MESH:D017213|SCTID:30512007|ICD9:521.08|EFO:1001163|DOID:14089|UMLS:C0162644	mondo.json	dental caries of root surface|root caries|cementum dental caries|cementum caries|dental caries of cementum	http://purl.obolibrary.org/obo/MONDO_0006957	UMLS:C0162644|http://identifiers.org/mesh/D017213|http://identifiers.org/snomedct/30512007|DOID:14089	
MONDO:0006954	biolink:Disease	obsolete rheumatic fever			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006954		
MONDO:0006955	biolink:Disease	rheumatic heart disease	An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction.	ICD9:398.99|EFO:1001161|MedDRA:10062110|DOID:0050827|MESH:D012214|SCTID:23685000|NCIT:C34882|ICD9:398.90	mondo.json	RHD|heart disease, rheumatic|rheumatic carditis|disease, rheumatic heart	http://purl.obolibrary.org/obo/MONDO_0006955	DOID:0050827|NCIT:C34882|http://identifiers.org/snomedct/23685000|http://identifiers.org/mesh/D012214	
MONDO:0006952	biolink:Disease	retinopathy of prematurity	A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include oxygen toxicity and hypoxia.	SCTID:415297005|Orphanet:90050|GARD:0005695|OMIM:133780|ICD9:362.21|ICD9:362.20|NCIT:C34982|EFO:1001158|MedDRA:10038933|MESH:D012178|UMLS:C0035344|DOID:13025	mondo.json	ROP|premature retinopathy|retrolental fibroplasia|Terry syndrome	http://purl.obolibrary.org/obo/MONDO_0006952	NCIT:C34982|http://identifiers.org/snomedct/415297005|UMLS:C0035344|Orphanet:90050|http://identifiers.org/mesh/D012178|DOID:13025	ordo_disease
MONDO:0006953	biolink:Disease	Rh isoimmunization	The mother develops antibodies against red blood cell Rhesus antigens. This may lead to potential fetal adverse outcomes such as anemia.	MedDRA:10039016|UMLS:C0035404|SCTID:44795003|EFO:1001159|DOID:4175	mondo.json	Rh incompatibility affecting management of mother	http://purl.obolibrary.org/obo/MONDO_0006953	http://identifiers.org/snomedct/44795003|UMLS:C0035404|DOID:4175	
MONDO:0006950	biolink:Disease	retinal vasculitis	Inflammation of the retinal vasculature with various causes including infectious disease; lupus erythematosus, systemic; multiple sclerosis; behcet syndrome; and chorioretinitis.	SCTID:77628002|MedDRA:10038905|UMLS:C0152026|MESH:D031300|EFO:1001156|ICD9:362.18|DOID:11563	mondo.json	retinal vasculitis	http://purl.obolibrary.org/obo/MONDO_0006950	http://identifiers.org/snomedct/77628002|DOID:11563|UMLS:C0152026|http://identifiers.org/mesh/D031300	
MONDO:0006951	biolink:Disease	retinal vein occlusion	An occlusion of the retinal vein.	SCTID:46085004|MESH:D012170|UMLS:C0035328|MedDRA:10038907|EFO:1001157|NCIT:C34981|DOID:1727	mondo.json	occlusion, of retinal vein|retinal vein occlusion	http://purl.obolibrary.org/obo/MONDO_0006951	UMLS:C0035328|http://identifiers.org/snomedct/46085004|DOID:1727|http://identifiers.org/mesh/D012170|NCIT:C34981	
MONDO:0018939	biolink:Disease	muscle-eye-brain disease	A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported.	OMIM:236670|SCTID:277950001|GARD:0000156|Orphanet:588|ICD9:742.4	mondo.json	MEB|muscle-eye-brain syndrome|muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3|muscle eye brain disease|MEB syndrome|Santavuori congenital muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0018939	Orphanet:588|http://identifiers.org/snomedct/277950001	gard_rare|ordo_disease
UBERON:0003593	biolink:AnatomicalEntity	thoracic cavity connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003593		
MONDO:0018947	biolink:Disease	centronuclear myopathy	Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.	DOID:14717|GARD:0000101|Orphanet:595|SCTID:82077006|MESH:D020914|NCIT:C84648|UMLS:C0175709|OMIMPS:160150	mondo.json	centronuclear myopathy|CNM|myopathy, centronuclear|myotubular myopathy|myopathy, myotubular	http://purl.obolibrary.org/obo/MONDO_0018947	UMLS:C0175709|Orphanet:595|DOID:14717|https://omim.org/phenotypicSeries/PS160150|http://identifiers.org/snomedct/82077006	ordo_group_of_disorders|disease_grouping|gard_rare
MONDO:0018946	biolink:Disease	rhombencephalosynapsis	Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterised by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres.	SCTID:442300000|Orphanet:59315|UMLS:C1866130|ICD9:742.4	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018946	UMLS:C1866130|http://identifiers.org/snomedct/442300000|Orphanet:59315	ordo_malformation_syndrome
UBERON:0003594	biolink:AnatomicalEntity	pelvis connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003594		
MONDO:0018949	biolink:Disease	distal myopathy	Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.	Orphanet:599|DOID:11720|NCIT:C84675|OMIMPS:160500|UMLS:C0751336|SCTID:58795000	mondo.json	distal myopathy|distal muscular dystrophy|Miyoshi muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0018949	Orphanet:599|UMLS:C0751336|https://omim.org/phenotypicSeries/PS160500|DOID:11720|NCIT:C84675|http://identifiers.org/snomedct/58795000	ordo_group_of_disorders|disease_grouping
UBERON:0003591	biolink:AnatomicalEntity	lobar bronchus connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003591		
UBERON:0003592	biolink:AnatomicalEntity	bronchus connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003592		
MONDO:0018948	biolink:Disease	multiminicore myopathy	A hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.	GARD:0009130|Orphanet:598|UMLS:C0270962|SCTID:55133004|OMIM:117000	mondo.json	multicore disease|multiminicore disease|MmD|multicore myopathy	http://purl.obolibrary.org/obo/MONDO_0018948	UMLS:C0270962|Orphanet:598|http://identifiers.org/snomedct/55133004	ordo_disease
MONDO:0018943	biolink:Disease	myofibrillar myopathy	Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.	MESH:C580316|UMLS:C2678065|ICD9:359.89|GARD:0010529|DOID:0080307|Orphanet:593|SCTID:699269005|OMIMPS:601419|HP:0003715|NCIT:C83009	mondo.json	Zaspopathy (type)|desmin related myopathy (former name)|desmin storage myopathy (former name)|Protein surplus myopathy (former name)|myotilinopathy (type)|myofibrillar myopathy|myofibrillar myopathies|Alpha Beta crystallinopathy (type)|filaminopathy (type)|myofibrillar myopathy (disease)|Desminopathy (type)	http://purl.obolibrary.org/obo/MONDO_0018943	http://identifiers.org/mesh/C580316|https://omim.org/phenotypicSeries/PS601419|NCIT:C83009|UMLS:C2678065|http://identifiers.org/snomedct/699269005|DOID:0080307|Orphanet:593	ordo_group_of_disorders|clingen|disease_grouping
MONDO:0018942	biolink:Disease	macrophagic myofasciitis		GARD:0000176|UMLS:C2931639|SCTID:718175009|MESH:C537829|Orphanet:592	mondo.json	MMF|Macrophagic myofasciitis, childhood	http://purl.obolibrary.org/obo/MONDO_0018942	UMLS:C2931639|http://identifiers.org/snomedct/718175009|http://identifiers.org/mesh/C537829|Orphanet:592	ordo_disease|gard_rare
UBERON:0003590	biolink:AnatomicalEntity	main bronchus connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003590		
MONDO:0018945	biolink:Disease	McLeod neuroacanthocytosis syndrome	A form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.	ICD9:289.89|HGNC:12811|OMIM:300842|SCTID:234411007|MESH:C564038|GARD:0010731|Orphanet:59306	mondo.json	McLeod phenotype|X-linked McLeod syndrome|McLeod syndrome with chronic granulomatous disease|neuroacanthocytosis, McLeod type|McLeod syndrome|mcleod syndrome with or without chronic granulomatous disease|MCLDS|MLS	http://purl.obolibrary.org/obo/MONDO_0018945	http://identifiers.org/mesh/C564038|https://omim.org/entry/300842|Orphanet:59306|http://identifiers.org/snomedct/234411007	gard_rare|ordo_disease
MONDO:0018944	biolink:Disease	gestational trophoblastic neoplasm	A diverse group of pregnancy-related tumors characterized by excessive proliferation of trophoblasts. Representative examples include hydatidiform mole, gestational choriocarcinoma, and placental site trophoblastic tumor.	ICD9:630|Orphanet:59305|MedDRA:10061988|GARD:0006498|NCIT:C3110|DOID:3590|UMLS:C1135868|SCTID:44782008|UMLS:C0020217|NCIT:C4699|SCTID:609519004|MESH:D006828	mondo.json	GTN|GTT|gestational trophoblastic neoplasia|molar pregnancy|gestational trophoblastic disease|gestational trophoblastic tumor|hydatidiform mole	http://purl.obolibrary.org/obo/MONDO_0018944	DOID:3590|Orphanet:59305|NCIT:C4699|UMLS:C1135868|http://identifiers.org/snomedct/609519004	ordo_group_of_disorders|disease_grouping
MONDO:0018941	biolink:Disease	furuncular myiasis	Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis).	UMLS:C2931766|GARD:0002418|Orphanet:591|MESH:C538194	mondo.json	furunculoid myiasis|furunculous myiasis	http://purl.obolibrary.org/obo/MONDO_0018941	UMLS:C2931766|http://identifiers.org/mesh/C538194|Orphanet:591	ordo_disease
UBERON:0003599	biolink:AnatomicalEntity	tail connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003599		
GO:0070257	biolink:NamedThing	positive regulation of mucus secretion	Any process that activates or increases the frequency, rate or extent of the regulated release of mucus from a cell or a tissue.		mondo.json	positive regulation of mucus production	http://purl.obolibrary.org/obo/GO_0070257		
MONDO:0018940	biolink:Disease	congenital myasthenic syndrome	Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.	Orphanet:590|SCTID:230672006|GARD:0000098|ICD9:358.00|MESH:D020294|NCIT:C84647|GARD:0011902|UMLS:C0751882|ICD9:V17.89|DOID:3635|OMIMPS:601462	mondo.json	CMS|myasthenia gravis congenital|myasthenic syndrome, congenital|myasthenia gravis pseudoparalytica|erb-Goldflam syndrome|congenital MG|familial limb-girdle myasthenia|congenital myasthenia	http://purl.obolibrary.org/obo/MONDO_0018940	DOID:3635|UMLS:C0751882|https://omim.org/phenotypicSeries/PS601462|http://identifiers.org/mesh/D020294|NCIT:C84647|http://identifiers.org/snomedct/230672006|Orphanet:590	gard_rare|ordo_disease
UBERON:0003597	biolink:AnatomicalEntity	manual digit connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003597		
GO:0070255	biolink:NamedThing	regulation of mucus secretion	Any process that modulates the frequency, rate or extent of the regulated release of mucus from a cell or a tissue.		mondo.json	regulation of mucus production	http://purl.obolibrary.org/obo/GO_0070255		
GO:0070256	biolink:NamedThing	negative regulation of mucus secretion	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of mucus from a cell or a tissue.		mondo.json	negative regulation of mucus production	http://purl.obolibrary.org/obo/GO_0070256		
UBERON:0003598	biolink:AnatomicalEntity	manus connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003598		
MONDO:0006949	biolink:Disease	retinal drusen	Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium.	EFO:1001155|UMLS:C0035312|MESH:D015593|SCTID:247153005|MedDRA:10062776|DOID:2569|ICD9:362.57	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006949	http://identifiers.org/snomedct/247153005|UMLS:C0035312|DOID:2569|http://identifiers.org/mesh/D015593	
UBERON:0003595	biolink:AnatomicalEntity	pes connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003595		
GO:0070253	biolink:NamedThing	somatostatin secretion	The regulated release of somatostatin from secretory granules in the D cells of the pancreas.		mondo.json		http://purl.obolibrary.org/obo/GO_0070253		
GO:0070254	biolink:NamedThing	mucus secretion	The regulated release of mucus by the mucosa. Mucus is a viscous slimy secretion consisting of mucins and various inorganic salts dissolved in water, with suspended epithelial cells and leukocytes. The mucosa, or mucous membrane, is the membrane covered with epithelium that lines the tubular organs of the body. Mucins are carbohydrate-rich glycoproteins that have a lubricating and protective function.		mondo.json	mucus production	http://purl.obolibrary.org/obo/GO_0070254		
UBERON:0003596	biolink:AnatomicalEntity	ankle connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003596		
MONDO:0006969	biolink:Disease	sialadenitis	Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front ofthe ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. Sialadenitis most commonly affects the elderly and chronically ill especially those with dry mouth or who are dehydrated, but can also affected people of any age including newborn babies. Diagnosis is usually made by clinical exam but a CT scan, MRI scan or ultrasound may be done if the doctor suspects an abscess or to look for stones. Treatment may include an antibiotic (if bacterial), warm compresses, increasing fluid intake and good oral hygiene. Most salivary gland infections go away on their own or are cured with treatment. Complications are not common.	MedDRA:10040627|SCTID:42982001|MESH:D012793|ICD9:527.2|DOID:10303|UMLS:C0037023|EFO:1001179|NCIT:C115165|GARD:0007638	mondo.json	saliva-secreting gland lymphadenitis (disease)|sialoadenitis|adenitis, salivary gland|salivary gland inflammation|sialitis|lymphadenitis (disease) of saliva-secreting gland	http://purl.obolibrary.org/obo/MONDO_0006969	http://identifiers.org/mesh/D012793|DOID:10303|UMLS:C0037023|http://identifiers.org/snomedct/42982001|NCIT:C115165	gard_rare
MONDO:0004306	biolink:Disease	childhood intracortical osteosarcoma	A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood. It arises from the medullary portion of the bone. It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis.	DOID:7612|NCIT:C6590|UMLS:C1332974	mondo.json	childhood conventional osteosarcoma|childhood intracortical osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0004306	UMLS:C1332974|NCIT:C6590|DOID:7612	
MONDO:0004305	biolink:Disease	parathyroid oncocytic adenoma	A parathyroid gland adenoma composed predominantly or entirely of neoplastic cells with abundant granular eosinophilic cytoplasm.	DOID:7611|NCIT:C27393|UMLS:C1335351	mondo.json	parathyroid gland oncocytic adenoma|parathyroid oncocytic adenoma	http://purl.obolibrary.org/obo/MONDO_0004305	NCIT:C27393|UMLS:C1335351|DOID:7611	
MONDO:0006967	biolink:Disease	obsolete septic abortion		MESH:D000031|MedDRA:10040056|EFO:1001177	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006967	http://identifiers.org/mesh/D000031	
MONDO:0004308	biolink:Disease	meningeal sarcoma	A rare sarcoma arising from the meninges.	NCIT:C4073|DOID:7614|UMLS:C0302327	mondo.json	meninges sarcoma|sarcoma of meningeal cluster|meningeal sarcoma|sarcoma of the meninges|sarcoma of meninges|meningeal cluster sarcoma	http://purl.obolibrary.org/obo/MONDO_0004308	NCIT:C4073|DOID:7614|UMLS:C0302327	
MONDO:0006968	biolink:Disease	shoulder impingement syndrome	Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)	MedDRA:10049039|UMLS:C0376685|DOID:14276|ICD9:726.2|ICD10CM:M75.4|SCTID:202849001|MESH:D019534|EFO:1001178	mondo.json	Impingement syndrome of shoulder region|subacromial impingement|shoulder impingement syndrome (disorder) [ambiguous]	http://purl.obolibrary.org/obo/MONDO_0006968	http://identifiers.org/snomedct/202849001|http://identifiers.org/mesh/D019534|http://purl.bioontology.org/ontology/ICD10CM/M75.4|UMLS:C0376685|DOID:14276	
MONDO:0004307	biolink:Disease	sarcomatosis of the meninges	A rare condition characterized by diffuse spread of sarcoma cells throughout the meninges. The neoplastic cells are derived from meningeal connective tissue. Clinically, this disorder may present as a fulminant pachymeningitis and/or encephalitis.	DOID:7613|UMLS:C0334612|NCIT:C4334|ICDO:9539/3	mondo.json	meninges sarcomatosis|meningeal sarcomatosis (morphologic abnormality)|sarcomatosis of the meninges|sarcomatosis of meninges|meningeal cluster sarcomatosis|meningeal sarcomatosis	http://purl.obolibrary.org/obo/MONDO_0004307	NCIT:C4334|UMLS:C0334612|DOID:7613	
MONDO:0004302	biolink:Disease	chief cell adenoma	A parathyroid gland adenoma composed predominantly of neoplastic chief cells. These cells have either slightly eosinophilic or vacuolated cytoplasm, and round nuclei.	ICDO:8321/0|NCIT:C4154|UMLS:C0334320|DOID:7607	mondo.json	chief cell adenoma of the parathyroid|chief cell adenoma of parathyroid|parathyroid chief cell adenoma|chief cell adenoma of parathyroid gland|parathyroid gland chief cell adenoma|chief cell adenoma|chief cell adenoma of the parathyroid gland	http://purl.obolibrary.org/obo/MONDO_0004302	NCIT:C4154|UMLS:C0334320|DOID:7607	
MONDO:0006965	biolink:Disease	secondary hypertrophic osteoarthropathy	Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)	ICD9:731.2|SCTID:203357004|EFO:1001174|UMLS:C0029412|MESH:D010005|DOID:10393	mondo.json	HPOA - hypertrophic pulmonary osteoarthropathy|hypertrophic pulmonary osteoarthropathy|hypertrophic pulmonary osteoarthropathy (disorder) [ambiguous]|Bamberger-Marie disease|Marie Bamberger disease	http://purl.obolibrary.org/obo/MONDO_0006965	http://identifiers.org/mesh/D010005|DOID:10393|UMLS:C0029412|http://identifiers.org/snomedct/203357004	
MONDO:0006966	biolink:Disease	secondary Parkinson disease	A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication.	EFO:1001175|MESH:D010302|NCIT:C34899|ICD9:332.1|UMLS:C0030569|SCTID:265377002|DOID:13548	mondo.json	symptomatic parkinsonism|secondary Parkinsonism|secondary parkinsonism, unspecified|secondary parkinsonism (disorder) [ambiguous]|disorder presenting primarily with parkinsonism	http://purl.obolibrary.org/obo/MONDO_0006966	DOID:13548|http://identifiers.org/snomedct/265377002|http://identifiers.org/mesh/D010302|UMLS:C0030569|NCIT:C34899	
MONDO:0004301	biolink:Disease	fibrosarcomatous osteosarcoma	A conventional osteosarcoma characterized by the presence of spindle shaped cells.	ICDO:9182/3|UMLS:C0279602|NCIT:C4020|ONCOTREE:FIOS|DOID:7603	mondo.json	fibroblastic osteogenic sarcoma|fibrosarcomatous osteosarcoma|FIOS|fibroblastic osteosarcoma (morphologic abnormality)|fibroblastic osteosarcoma|fibrosarcomatous osteogenic sarcoma	http://purl.obolibrary.org/obo/MONDO_0004301	NCIT:C4020|DOID:7603|UMLS:C0279602	
MONDO:0006963	biolink:Disease	sebaceous gland neoplasm	A benign or malignant neoplasm that arises from the sebaceous glands. Representative examples include sebaceous adenoma and sebaceous carcinoma.	UMLS:C3805742|EFO:1001172|MESH:D012626|ICD9:239.2|SCTID:126491004|DOID:5759|NCIT:C3363|UMLS:C0036503	mondo.json	sebaceous neoplasm|sebaceous gland neoplasm|tumor of sebaceous gland|sebaceous tumor|sebaceous gland neoplasm (disease)|sebaceous gland tumor|neoplasm of sebaceous gland	http://purl.obolibrary.org/obo/MONDO_0006963	UMLS:C0036503|http://identifiers.org/snomedct/126491004|NCIT:C3363|UMLS:C3805742|DOID:5759|http://identifiers.org/mesh/D012626	
MONDO:0004304	biolink:Disease	mixed cell type adenoma of parathyroid	A parathyroid gland adenoma that contains a mixture of neoplastic cells (chief cells, oncocytes, and clear cells).	DOID:7610|UMLS:C0279701|NCIT:C7994	mondo.json	mixed cell type adenoma of parathyroid gland|mixed cell type adenoma of the parathyroid|mixed cell type adenoma of parathyroid|parathyroid gland mixed cell type adenoma|mixed cell type adenoma of the parathyroid gland|parathyroid mixed cell type adenoma	http://purl.obolibrary.org/obo/MONDO_0004304	NCIT:C7994|DOID:7610|UMLS:C0279701	
MONDO:0006964	biolink:Disease	secondary hyperparathyroidism	Overproduction of parathyroid hormone in response to influence external to the parathyroid glands.	NCIT:C113335|EFO:1001173|DOID:12466|MESH:D006962|UMLS:C0020503|SCTID:91478007|MedDRA:10020708|HP:0000867	mondo.json	secondary hyperparathyroidism NOS|secondary hyperparathyroidism|secondary hyperparathyroidism (disease)	http://purl.obolibrary.org/obo/MONDO_0006964	http://identifiers.org/snomedct/91478007|NCIT:C113335|DOID:12466|http://identifiers.org/mesh/D006962|UMLS:C0020503	
MONDO:0004303	biolink:Disease	parathyroid gland clear cell adenoma	A parathyroid gland adenoma composed predominantly of neoplastic cells with clear cytoplasm.	NCIT:C7993|UMLS:C0279700|DOID:7609	mondo.json	clear cell adenoma of the parathyroid|parathyroid clear cell adenoma|parathyroid gland clear cell adenoma|clear cell adenoma of the parathyroid gland|transitional clear cell adenoma of the parathyroid gland|parathyroid gland transitional clear cell adenoma|clear cell adenoma of parathyroid gland|transitional clear cell adenoma of parathyroid gland|parathyroid transitional clear cell adenoma|transitional clear cell adenoma of the parathyroid|transitional clear cell adenoma of parathyroid|clear cell adenoma of parathyroid	http://purl.obolibrary.org/obo/MONDO_0004303	NCIT:C7993|DOID:7609|UMLS:C0279700	
MONDO:0006961	biolink:Disease	scrapie	A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called prions.	UMLS:C0036457|MESH:D012608|DOID:5434|EFO:1001168	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006961	DOID:5434|http://identifiers.org/mesh/D012608|UMLS:C0036457	
MONDO:0006962	biolink:Disease	sebaceous adenocarcinoma	An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize.	ONCOTREE:SEBA|UMLS:C1382026|ICDO:8410/3|EFO:1001171|NCIT:C8409|UMLS:C0206684|DOID:4839|NCIT:C40310|SCTID:307599002|MESH:D018266|DOID:4840	mondo.json	Seba|sebaceous carcinoma|sebaceous cancer|carcinoma of the sebaceous gland|carcinoma of sebaceous gland|adenocarcinoma, sebaceous, malignant|sebaceous gland adenocarcinoma|adenocarcinoma of the sebaceous gland|sebaceous gland carcinoma|malignant sebaceous tumor	http://purl.obolibrary.org/obo/MONDO_0006962	http://identifiers.org/mesh/D018266|http://identifiers.org/snomedct/307599002|NCIT:C40310|UMLS:C0206684|DOID:4839|DOID:4840	
MONDO:0004300	biolink:Disease	obsolete intracortical osteogenic sarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004300		
MONDO:0006960	biolink:Disease	sciatic neuropathy	Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)	SCTID:52585001|MESH:D020426|UMLS:C0149940|DOID:11446|EFO:1001166|MedDRA:10048950	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006960	http://identifiers.org/snomedct/52585001|DOID:11446|http://identifiers.org/mesh/D020426|UMLS:C0149940	
MONDO:0018929	biolink:Disease	medial condensing osteitis of the clavicle		GARD:0010910|Orphanet:57196|UMLS:CN230280	mondo.json	condensing osteitis of the clavicle|condensing osteitis of the medial clavicle|osteitis condensans of the clavicle	http://purl.obolibrary.org/obo/MONDO_0018929	Orphanet:57196|UMLS:CN230280	ordo_disease
MONDO:0018928	biolink:Disease	obsolete rare hepatic disease	OBSOLETE. Rare liver disease.	Orphanet:57146|UMLS:CN205315	mondo.json	rare liver disease	http://purl.obolibrary.org/obo/MONDO_0018928	Orphanet:57146|UMLS:CN205315	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0018936	biolink:Disease	osteoblastoma	A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent.	Orphanet:58040|MESH:D018215|UMLS:C0029417|ICDO:9200/0|NCIT:C3294|DOID:0060098|MedDRA:10004430|ICD10CM:D16.5|EFO:1000410|HP:0011846	mondo.json	osteoblastoma, benign|osteoblastoma (disease)|giant osteoid osteoma|osteoblastoma|ossifying giant cell tumor	http://purl.obolibrary.org/obo/MONDO_0018936	http://identifiers.org/mesh/D018215|DOID:0060098|UMLS:C0029417|Orphanet:58040|NCIT:C3294	ordo_disease
UBERON:0003582	biolink:AnatomicalEntity	nasopharynx connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003582		
MONDO:0018935	biolink:Disease	hairy cell leukemia	Hairy cell leukemia (HCL) is a rare type of leukemia in which abnormal B-lymphocytes are present in the bone marrow, spleen and peripheral blood. It is a slowly progressive chronic lymphocytic leukemia (CLL). The name comes from the abnormally shaped lymphocytes with hair-like projections.	ICDO:9940/3|MedDRA:10019055|NCIT:C7402|SCTID:118613001|ONCOTREE:HCL|Orphanet:58017|EFO:1000956|MESH:D007943|ICD9:202.4|GARD:0006560|MedDRA:10019053|DOID:285|UMLS:C0023443	mondo.json	leukemic reticuloendotheliosis|HCL-C|HCL|hairy cell leukemia|classic hairy cell leukemia	http://purl.obolibrary.org/obo/MONDO_0018935	NCIT:C7402|http://identifiers.org/mesh/D007943|UMLS:C0023443|http://identifiers.org/snomedct/118613001|Orphanet:58017|DOID:285	ordo_disease
UBERON:0003583	biolink:AnatomicalEntity	larynx connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003583		
MONDO:0018938	biolink:Disease	mucopolysaccharidosis type 4	Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B.	DOID:12804|SCTID:378007|UMLS:C0026707|GARD:0012562|NCIT:C61263|Orphanet:582|MedDRA:10028095	mondo.json	MPSIV|chondroosteodystrophy|mucopolysaccharidosis IV|mucopolysaccharidosis type IV|MPS IV - Morquio syndrome B|MPS IV - Morquio syndrome A|mucopolysaccharidosis, MPS-IV|mucopolysaccharidosis type 4|Morquio disease|Osteochondrodystrophy|mucopolysaccharidosis type IVB|Morquio syndrome|mucopolysaccharidosis type IVA|MPS4|galactosamine-6-sulfatase deficiency|Morquio syndrome A|Morquio A disease|deficiency of N-acetylgalactosamine-6-sulphatase|mucopolysaccharidosis, MPS-IV-A|deficiency of chondroitinsulphatase	http://purl.obolibrary.org/obo/MONDO_0018938	http://identifiers.org/snomedct/378007|UMLS:C0026707|Orphanet:582|NCIT:C61263|DOID:12804	ordo_disease
UBERON:0003580	biolink:AnatomicalEntity	lower respiratory tract connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003580		
MONDO:0018937	biolink:Disease	mucopolysaccharidosis type 3	Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration.	UMLS:C0026706|DOID:12801|MedDRA:10056890|SCTID:88393000|UMLS:CN205330|Orphanet:581|NCIT:C61262|GARD:0003807	mondo.json	mucopolysaccharidosis, MPS-III|MPS IIID - Sanfilippo syndrome D|Sanfilippo disease|NAGLU deficiency|MPS IIIC - Sanfilippo syndrome C|N-acetyl-alpha-D-glucosaminidase deficiency|MPS IIIB - Sanfilippo syndrome B|MPSIII|mucopolysaccharidosis, MPS-III-B|heparan sulfate sulfatase deficiency|MPS IIIA - Sanfilippo syndrome A|N-sulphoglucosamine sulphohydrolase deficiency|Sanfilippo syndrome|Sanfilippo syndrome B|MPS3|Sanfilippo syndrome A|mucopolysaccharidosis type IIIB|mucopolysaccharidosis type IIIA|mucopolysaccharidosis III|mucopolysaccharidosis type III|Mucopoly-saccharidosis type 3|Sanfilippo's syndrome	http://purl.obolibrary.org/obo/MONDO_0018937	UMLS:C0026706|Orphanet:581|NCIT:C61262|http://identifiers.org/snomedct/88393000|UMLS:CN205330|DOID:12801	ordo_disease
UBERON:0003581	biolink:AnatomicalEntity	eyelid connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003581		
MONDO:0018932	biolink:Disease	cirrhotic cardiomyopathy	Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes.	UMLS:C4511053|Orphanet:57777|SCTID:725416005	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018932	UMLS:C4511053|http://identifiers.org/snomedct/725416005|Orphanet:57777	ordo_disease
MONDO:0018931	biolink:Disease	mucolipidosis type III	Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.	UMLS:CN237499|Orphanet:423461|DOID:0080071|GARD:0003806|Orphanet:577|OMIM:252600|SCTID:65764006	mondo.json	ML III alpha/beta|mucolipidosis III ALPHA/BETA|pseudo-Hurler polydystrophy|ML 3 Alpha/Beta|mucolipidosis type 3A|ML 3|MLIII|mucolipidosis III|mucolipidosis 3 Alpha/Beta, atypical|mucolipidosis type III alpha/beta|mucolipidosis 3 Alpha/Beta|mucolipidosis 3A|ML 3 alpha/beta|mucolipidosis 3|ML 3 A|mucolipidosis type 3 alpha/beta|ML3	http://purl.obolibrary.org/obo/MONDO_0018931	Orphanet:577|http://identifiers.org/snomedct/65764006|UMLS:CN237499|https://omim.org/entry/252600|DOID:0080071|Orphanet:423461	ordo_clinical_subtype|ordo_disease|gard_rare
NCBITaxon:9347	biolink:OrganismalEntity	Eutheria		GC_ID:1	mondo.json	placentals|placental mammals|placentals|eutherian mammals|Placentalia	http://purl.obolibrary.org/obo/NCBITaxon_9347		
MONDO:0018934	biolink:Disease	obsolete mucopolysaccharidosis type 1			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018934		
MONDO:0018933	biolink:Disease	Mazabraud syndrome	Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.	ICD9:733.29|UMLS:CN205323|ICD9:215.9|SCTID:699251001|Orphanet:57782	mondo.json	Myxoma with fibrous dysplasia	http://purl.obolibrary.org/obo/MONDO_0018933	UMLS:CN205323|http://identifiers.org/snomedct/699251001|Orphanet:57782	ordo_malformation_syndrome
MONDO:0018930	biolink:Disease	monosomy 21	Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.	GARD:0010860|NCIT:C36469|Orphanet:574|UMLS:C0795875|MESH:C537108	mondo.json	chromosome 21q deletion|partial 21q monosomy|21q- syndrome|deletion 21q|21q deletion syndrome|monosomy type 21|monosomy 21q|partial monosomy 21q|21q deletion|21q monosomy	http://purl.obolibrary.org/obo/MONDO_0018930	http://identifiers.org/mesh/C537108|UMLS:C0795875|Orphanet:574	ordo_malformation_syndrome
UBERON:0003588	biolink:AnatomicalEntity	forelimb connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003588		
UBERON:0003589	biolink:AnatomicalEntity	hindlimb connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003589		
UBERON:0003586	biolink:AnatomicalEntity	trunk connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003586		
UBERON:0003587	biolink:AnatomicalEntity	limb connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003587		
UBERON:0003584	biolink:AnatomicalEntity	mammary gland connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003584		
UBERON:0003585	biolink:AnatomicalEntity	dermis connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003585		
UBERON:0003609	biolink:AnatomicalEntity	aorta elastic tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003609		
UBERON:0003607	biolink:AnatomicalEntity	forelimb long bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003607		
MONDO:0100040	biolink:Disease	FOXG1 disorder	A monogenic disease that has material basis in mutation in the FOXG1 gene.		mondo.json	inherited genetic disease caused by mutation in FOXG1|FOXG1 inherited genetic disease|FOXG1 disorder	http://purl.obolibrary.org/obo/MONDO_0100040		
UBERON:0003608	biolink:AnatomicalEntity	hindlimb long bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003608		
MONDO:0100041	biolink:Disease	secondary trimethylaminuria	A type of trimethylaminuria that occurs as the result of treatment with large doses of dietary precursors of the offending chemical. Symptoms develop when the ability of the liver enzyme (flavin-containing monooxygenase 3) is insufficient to break down (metabolize) the excess trimethylamine.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100041		
UBERON:0003605	biolink:AnatomicalEntity	eye skin gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003605		
UBERON:0003606	biolink:AnatomicalEntity	limb long bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003606		
MONDO:0100043	biolink:Disease	epidermodysplasia verruciformis, susceptibility to			mondo.json		http://purl.obolibrary.org/obo/MONDO_0100043		
UBERON:0003603	biolink:AnatomicalEntity	lower respiratory tract cartilage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003603		
UBERON:0003604	biolink:AnatomicalEntity	trachea cartilage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003604		
MONDO:0100044	biolink:Disease	acrofrontofacionasal dysostosis 1		OMIM:201180|UMLS:C4551987|MESH:C538186	mondo.json	acrofrontofacionasal dysostosis type 1|acrofrontofacionasal dysostosis 1|AFFN dysostosis 1	http://purl.obolibrary.org/obo/MONDO_0100044	https://omim.org/entry/201180|http://identifiers.org/mesh/C538186|UMLS:C4551987	
MONDO:0100045	biolink:Disease	epidermodysplasia verruciformis, susceptibility to, 1		OMIM:226400	mondo.json	EV1|epidermodysplasia verruciformis 1	http://purl.obolibrary.org/obo/MONDO_0100045	https://omim.org/entry/226400	
MONDO:0100046	biolink:Disease	exfoliation syndrome, susceptibility to	An inherited susceptibility or predisposition to developing exfoliation syndrome.	OMIM:177650	mondo.json	pseudoexfoliation glaucoma|pseudoexfoliation of the lens|pseudoexfoliation syndrome	http://purl.obolibrary.org/obo/MONDO_0100046	https://omim.org/entry/177650	
MONDO:0100047	biolink:Disease	basal cell carcinoma, susceptibility to	An inherited susceptibility or predisposition to developing basal cell carcinoma.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100047		
GO:0008443	biolink:NamedThing	phosphofructokinase activity	Catalysis of the transfer of a phosphate group, usually from ATP, to a phosphofructose substrate molecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0008443		
PO:0020003	biolink:NamedThing	plant ovule	A plant organ (PO:0009008) that has as parts a nucellus (PO:0020020) in which a female gametophyte (PO:0025279) is located, one or two integuments (PO:0020021), and a funicle (PO:0020006).	PO_GIT:70|PO_GIT:464	mondo.json	&#243vulo vegetal (Spanish, exact)|Zea ovule (narrow)|胚珠 (Japanese, exact)|Poaceae ovule (narrow)	http://purl.obolibrary.org/obo/PO_0020003		TraitNet|reference
UBERON:0003613	biolink:AnatomicalEntity	cardiovascular system elastic tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003613		
UBERON:0003610	biolink:AnatomicalEntity	heart elastic tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003610		
UBERON:0003611	biolink:AnatomicalEntity	respiratory system elastic tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003611		
CHEBI:138103	biolink:ChemicalSubstance	inorganic acid	A Bronsted acid derived from one or more inorganic compounds. Inorganic acids (also known as mineral acids) form hydrons and conjugate base ions when dissolved in water.		mondo.json	mineral acids|inorganic acids|mineral acid	http://purl.obolibrary.org/obo/CHEBI_138103		
MONDO:0100050	biolink:Disease	Usher syndrome, type 1D/F	Any Usher syndrome in which the cause of the disease is a mutation in the CDH23 and PCDH15 genes.	OMIM:601067	mondo.json	Usher syndrome, type 1D/F, CDH23/PCDH15, digenic|USH1D/F, CDH23/PCDH15, digenic	http://purl.obolibrary.org/obo/MONDO_0100050		
MONDO:0100051	biolink:Disease	idiopathic mast cell activation syndrome	Mast cell activation syndrome where neither an allergy or other underlying disease is association, nor KIT-mutated mast cells are detectable.		mondo.json	idiopathic MACS	http://purl.obolibrary.org/obo/MONDO_0100051		
MONDO:0100052	biolink:Disease	acetazolamide-responsive hereditary episodic ataxia	Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days, with improvement upon therapy with acetazolamide.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100052		
MONDO:0100053	biolink:Disease	anaphylaxis	An acute hypersensitivity reaction that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting.	NCIT:C107101|MESH:D000707|MedDRA:10002198|SCTID:39579001	mondo.json	systemic anaphylaxis|anaphylactic shock	http://purl.obolibrary.org/obo/MONDO_0100053	http://identifiers.org/mesh/D000707|http://identifiers.org/meddra/10002198|http://identifiers.org/snomedct/39579001|NCIT:C107101	
MONDO:0100054	biolink:Disease	idiopathic anaphylaxis	Idiopathic anaphylaxis is a rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment.	SCTID:241954008	mondo.json		http://purl.obolibrary.org/obo/MONDO_0100054	http://identifiers.org/snomedct/241954008	
MONDO:0100055	biolink:Disease	intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements	Intraosseous spindle cell rhabdomyosarcoma characterized by the fusion of the EWSR1 or FUS gene with the TFCP2 gene, or the MEIS1 gene with the NCOA2 gene.	NCIT:C178236	mondo.json	intraosseous rhabdomyosarcoma with FUS-TFCP2 fusion|intraosseous rhabdomyosarcoma defined by FUS-TFCP2 fusion	http://purl.obolibrary.org/obo/MONDO_0100055	NCIT:C178236	
MONDO:0100056	biolink:Disease	exercise-induced anaphylaxis	A rare disorder in which anaphylaxis occurs in association with physical activity.		mondo.json	EIAn	http://purl.obolibrary.org/obo/MONDO_0100056		
GO:0008456	biolink:NamedThing	alpha-N-acetylgalactosaminidase activity	Catalysis of the hydrolysis of terminal non-reducing N-acetyl-D-galactosamine residues in N-acetyl-alpha-D-galactosaminides.		mondo.json	alpha-galactosidase B activity|N-acetyl-alpha-galactosaminidase activity|alpha-NAGA activity|alpha-N-acetyl-D-galactosaminide N-acetylgalactosaminohydrolase activity|alpha-acetylgalactosaminidase activity|N-acetyl-alpha-D-galactosaminidase activity	http://purl.obolibrary.org/obo/GO_0008456		
MONDO:0100057	biolink:Disease	food-dependent exercise-induced anaphylaxis	A subset of exercise-induced anaphylaxis in which symptoms develop if exertion takes place within a few hours of eating a specific food. In the case of food-dependent exercise-induced anaphylaxis, neither the food nor the exercise alone is enough to cause anaphylaxis.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100057		
MONDO:0100058	biolink:Disease	hypervalinemia and hyperleucine-isoleucinemia	Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective α-keto acids.	OMIM:618850	mondo.json	hypervalinemia and hyperleucine-isoleucinemia|HVLI|hypervalinemia or hyperleucine-isoleucinemia|branched-chain aminotransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0100058	https://omim.org/entry/618850	
MONDO:0100059	biolink:Disease	hypereosinophilia of undetermined significance	Long-lasting, unexplained and asymptomatic blood hypereosinophilia.		mondo.json	benign eosinophilia|HEUS	http://purl.obolibrary.org/obo/MONDO_0100059		
HGNC:1908	biolink:NamedThing	VPS13A			mondo.json		http://identifiers.org/hgnc/1908		
NCBITaxon:721805	biolink:OrganismalEntity	Amygdaleae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_721805		
UBERON:0003601	biolink:AnatomicalEntity	neck cartilage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003601		
HGNC:1915	biolink:NamedThing	CHD1			mondo.json		http://identifiers.org/hgnc/1915		
MONDO:0100060	biolink:Disease	congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements	Congenital/infantile spindle cell rhabdomyosarcoma characterized by the presence of gene fusions involving the VGLL2, SRF, TEAD1, NCOA2, and CITED2 genes.	NCIT:C178232	mondo.json		http://purl.obolibrary.org/obo/MONDO_0100060	NCIT:C178232	
MONDO:0100061	biolink:Disease	PRPS1 deficiency disorder	A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss.		mondo.json	PRPS1-related CMTX5/Arts syndrome/XLNSHL|PRPS1 deficiency disorder	http://purl.obolibrary.org/obo/MONDO_0100061		
MONDO:0100062	biolink:Disease	developmental and epileptic encephalopathy	A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity.	NCIT:C122814|DOID:0050709|SCTID:28055006|ICD9:345.10|MedDRA:10071545|SCTID:230429005|Orphanet:1934|NCIT:C84788|GARD:0009255|DOID:2481|EFO:1000643|ICD9:345.6|UMLS:C0037769|OMIMPS:308350	mondo.json	infantile epileptic encephalopathy|epileptic encephalopathy, early infantile|early infantile epileptic encephalopathy with burst-suppression|epileptic encephalopathy, infantile|infantile spasm|early infantile epileptic encephalopathy with suppression-bursts|Ohtahara syndrome|EIEE|early infantile epileptic encephalopathy|developmental and epileptic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0100062	Orphanet:1934|DOID:0050709|https://omim.org/phenotypicSeries/PS308350|http://identifiers.org/snomedct/230429005|NCIT:C122814	ordo_clinical_syndrome|clingen
MONDO:0100063	biolink:Disease	Pericytoma with t(7;12)	A rare soft tissue neoplasm that displays a perivascular pattern of spindle-to-ovoid cell proliferation.		mondo.json	Pericytoma t(7;12)	http://purl.obolibrary.org/obo/MONDO_0100063		
MONDO:0100064	biolink:Disease	tyrosine hydroxylase deficiency	Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa).		mondo.json	tyrosine Hydroxylase deficiency|TH deficiency|tyrosine 3-monooxygenase deficiency|tyrosine hydroxylase deficiency	http://purl.obolibrary.org/obo/MONDO_0100064		
HGNC:1912	biolink:NamedThing	CHAT			mondo.json		http://identifiers.org/hgnc/1912		
MONDO:0100065	biolink:Disease	TH-deficient infantile parkinsonism and motor delay	A tyrosine hydroxylase deficiency with onset typically between age three and 12 months. Motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor).		mondo.json	tyrosine hydroxylase infantile parkinsonism and motor delay	http://purl.obolibrary.org/obo/MONDO_0100065		
MONDO:0100066	biolink:Disease	TH-deficient progressive infantile encephalopathy	A tyrosine hydroxylase deficiency in which individuals are extremely sensitive to levodopa therapy. In this very severe form, treatment with levodopa is often limited by intolerable dyskinesias.		mondo.json	tyrosine hydroxylase-deficient progressive infantile encephalopathy	http://purl.obolibrary.org/obo/MONDO_0100066		
MONDO:0100067	biolink:Disease	childhood spindle cell rhabdomyosarcoma	A spindle cell rhabdomyosarcoma occurring in children.	NCIT:C123397	mondo.json		http://purl.obolibrary.org/obo/MONDO_0100067	NCIT:C123397	
MONDO:0100068	biolink:Disease	SLC10A7-congenital disorder of glycosylation	SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen.		mondo.json	SLC10A7 deficiency|SLC10A7-CDG|SLC10A7-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0100068		
MONDO:0100069	biolink:Disease	hearing impairment and infertile male syndrome	A syndromic genetic deafness characterized by segregation of nonsyndromic hearing loss in females and hearing loss with infertility in males. Affected males have been reported to have low count to absent sperm, immobile sperm, and/or sperm with abnormal morphology.		mondo.json	HIIMS|hearing impairment and infertile male syndrome	http://purl.obolibrary.org/obo/MONDO_0100069		
HGNC:1919	biolink:NamedThing	CHD4			mondo.json		http://identifiers.org/hgnc/1919		
HGNC:1917	biolink:NamedThing	CHD2			mondo.json		http://identifiers.org/hgnc/1917		
NCBITaxon:721813	biolink:OrganismalEntity	Maleae		GC_ID:1	mondo.json	Pyrodae|Pyreae	http://purl.obolibrary.org/obo/NCBITaxon_721813		
MONDO:0100070	biolink:Disease	neuroendocrine disorder	A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli.		mondo.json	neuroendocrine system disease	http://purl.obolibrary.org/obo/MONDO_0100070		
MONDO:0100071	biolink:Disease	cardiocutaneous syndrome	Cardiocutaneous syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern and autosomal recessive, which may lead to earlier and/or more severe phenotypic presentation.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100071		
MONDO:0100072	biolink:Disease	neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts	Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts is characterized by the three primary phenotypes of neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts. Cases have reported additional varying phenotypes, including optic atrophy, hypothyroidism, severe neonatal hypotonia in males, developmental delay, facial abnormalities, and a few other more rare phenotypes. The severity and congenital onset of the phenotypes distinguish these patients from Wolfram-like syndrome patients.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100072		
MONDO:0100073	biolink:Disease	methicillin-resistant staphylococcus aureus infectious disease	Infections caused by a strain of Staphylococcus aureus that is non-susceptible to the action of the antibiotic, methicillin. The mechanism of resistance usually involves modification of normal or the presence of acquired penicillin binding proteins.		mondo.json	MRSA	http://purl.obolibrary.org/obo/MONDO_0100073		
MONDO:0100074	biolink:Disease	norovirus infectious disease	Infections caused by viruses of the genus in the family caliciviridae, which is associated with epidemic gastroenteritis in humans.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100074		
MONDO:0100075	biolink:Disease	jaw fracture	A traumatic or pathologic injury to the jaw in which the continuity of the bone is broken.	MESH:D007572	mondo.json	lower jaw fracture|upper jaw fracture	http://purl.obolibrary.org/obo/MONDO_0100075	http://identifiers.org/mesh/D007572	
MONDO:0100076	biolink:Disease	juvenile idiopathic scoliosis	A scoliosis with no known cause arising in a juvenile.	Orphanet:459696	mondo.json		http://purl.obolibrary.org/obo/MONDO_0100076	Orphanet:459696	
MONDO:0100077	biolink:Disease	congenital alveolar dysplasia	A congenital alveolar dysplasia characterized anatomically by a defective and hypoplastic development of pulmonary alveoli that is commonly associated with atelectasis and can be responsible for atelectasis.		mondo.json	CAD	http://purl.obolibrary.org/obo/MONDO_0100077		
MONDO:0100078	biolink:Disease	resistant hypertension	A severe medical condition which is estimated to appear in 9-18% of hypertensive patients, in which treatement with 3 or more antihypertensive drugs including diuretics are ineffective.		mondo.json	drug resistant hypertension	http://purl.obolibrary.org/obo/MONDO_0100078		
MONDO:0100079	biolink:Disease	developmental and epileptic encephalopathy, 6	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene.	OMIM:607208	mondo.json	DEE6|EIEE6|developmental and epileptic encephalopathy, 6|Dravet syndrome|epileptic encephalopathy, early infantile, 6	http://purl.obolibrary.org/obo/MONDO_0100079	https://omim.org/entry/607208	
GO:0008434	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0008434		
MONDO:0100081	biolink:Disease	sleep disorder	A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep.	NCIT:C3376	mondo.json	parasomnia|sleep disturbances|disturbances, sleep|sleep disturbance	http://purl.obolibrary.org/obo/MONDO_0100081	NCIT:C3376	
MONDO:0100082	biolink:Disease	LEOPARD syndrome 1	Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24.	DOID:0080548|OMIM:151100	mondo.json	LEOPARD syndrome type 1|LEOPARD syndrome 1|multiple lentigines syndrome|lentiginosis, cardiomyopathic|LPRD1	http://purl.obolibrary.org/obo/MONDO_0100082	https://omim.org/entry/151100|DOID:0080548	
HGNC:1938	biolink:NamedThing	CHKB			mondo.json		http://identifiers.org/hgnc/1938		
MONDO:0041182	biolink:Disease	polymorphic light eruption		SCTID:238525001|UMLS:C0031736	mondo.json	polymorphic photodermatitis|polymorphous light eruption|polymorphic light eruption	http://purl.obolibrary.org/obo/MONDO_0041182	UMLS:C0031736|http://identifiers.org/snomedct/238525001	
MONDO:0100083	biolink:Disease	hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL.	OMIM:601399	mondo.json	thrombocytopenia, familial, with propensity to acute myelogenous leukemia|familial platelet disorder with associated myeloid malignancy|platelet disorder, aspirin-like|FPDMM|asprin-like platelet disorder|FPS/AML syndrome|platelet disorder, familial, with associated myeloid malignancy|FPD/AML syndrome|familial thrombocytopenia with propensity to acute myelogenous leukemia|hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1|familial platelet syndrome with predisposition to acute myelogenous leukemia	http://purl.obolibrary.org/obo/MONDO_0100083	https://omim.org/entry/601399	
MONDO:0100084	biolink:Disease	alpha-actinopathy	A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance.		mondo.json	alpha-actinopathy|alpha actinopathy|actinopathy|actin myopathy|ACTA1 disease	http://purl.obolibrary.org/obo/MONDO_0100084		
HGNC:1936	biolink:NamedThing	CHIT1			mondo.json		http://identifiers.org/hgnc/1936		
MONDO:0100085	biolink:Disease	cancer of long bone of upper limb	A cancer that involves the upper limb long bone.		mondo.json	long bones of upper limb cancer|malignant neoplasm of upper limb long bone|cancer of upper extremity long bone|cancer of long bone of forelimb|cancer of fore limb long bone|cancer of long bone of upper extremity|malignant upper limb long bone neoplasm|cancer of long bone of fore limb	http://purl.obolibrary.org/obo/MONDO_0100085		
UBERON:0003649	biolink:AnatomicalEntity	metacarpal bone of digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003649		
GO:0008406	biolink:NamedThing	gonad development	The process whose specific outcome is the progression of the gonad over time, from its formation to the mature structure. The gonad is an animal organ that produces gametes; in some species it also produces hormones.		mondo.json	gonadogenesis	http://purl.obolibrary.org/obo/GO_0008406		
MONDO:0100086	biolink:Disease	perinatal disease	A condition affecting an unborn or newly born individual, where the perinatal period is defined in humans as commencing at 22 completed weeks (154 days) of gestation and ending seven completed days after birth. Other, broader definitions of perinatal period cover five months before birth to one month after birth.	ICD10CM:P00-P96	mondo.json	perinatal condition|perinatal disorder	http://purl.obolibrary.org/obo/MONDO_0100086	http://purl.bioontology.org/ontology/ICD10CM/P00-P96	harrisons_view
MONDO:0100087	biolink:Disease	familial Alzheimer disease	A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner.		mondo.json	FAD|Alzheimer disease, familial|GARD:0000632	http://purl.obolibrary.org/obo/MONDO_0100087		
MONDO:0100088	biolink:Disease	obsolete late-onset familial alzheimer disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0100088		
HGNC:1932	biolink:NamedThing	CHI3L1			mondo.json		http://identifiers.org/hgnc/1932		
MONDO:0100089	biolink:Disease	GATA1-Related X-Linked Cytopenia	X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia.		mondo.json	GATA1-Related Cytopenia|GATA1-Related X-Linked Cytopenia	http://purl.obolibrary.org/obo/MONDO_0100089		
MONDO:0041186	biolink:Disease	Rowell syndrome	A form of lupus erythematosus (discoid or systemic) with annular lesions of the skin like erythema multiforme associated with a characteristic pattern of immunological abnormalities.	SCTID:238926009|UMLS:C0406637	mondo.json	Rowell's syndrome|lupus erythematosus and erythema multiforme-like syndrome	http://purl.obolibrary.org/obo/MONDO_0041186	http://identifiers.org/snomedct/238926009|UMLS:C0406637	
UBERON:0003656	biolink:AnatomicalEntity	mesopodium bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003656		
HGNC:1940	biolink:NamedThing	CHM			mondo.json		http://identifiers.org/hgnc/1940		
UBERON:0003657	biolink:AnatomicalEntity	limb joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003657		
UBERON:0003654	biolink:AnatomicalEntity	metatarsal bone of digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003654		
UBERON:0003650	biolink:AnatomicalEntity	metatarsal bone of digit 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003650		
MONDO:0100080	biolink:Disease	cardioectodermal syndrome	Cardioectodermal syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation.		mondo.json	cardio-ectodermal syndrome	http://purl.obolibrary.org/obo/MONDO_0100080		
MONDO:0100092	biolink:Disease	myoclonus, familial, 2	Familial cortical myoclonus caused by heterozygous mutation in the SCN8A gene on chromosome 12q13.	OMIM:618364	mondo.json	MYOCL2	http://purl.obolibrary.org/obo/MONDO_0100092	https://omim.org/entry/618364	
MONDO:0100093	biolink:Disease	myoclonus, familial, 1	Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22.	OMIM:614937	mondo.json	MYOCL1|FCM|myoclonus, familial cortical	http://purl.obolibrary.org/obo/MONDO_0100093	https://omim.org/entry/614937	
MONDO:0100094	biolink:Disease	cannabinoid hyperemesis syndrome	A syndrome of cyclic vomiting associated with cannabis use. Fourteen diagnostic characteristics have been identified, and the frequency of major characteristics is as follows: history of regular cannabis for any duration of time (100%), cyclic nausea and vomiting (100%), resolution of symptoms after stopping cannabis (96.8%), compulsive hot baths with symptom relief (92.3%), male predominance (72.9%), abdominal pain (85.1%), and at least weekly cannabis use (97.4%). Supportive care with intravenous fluids, dopamine antagonists, topical capsaicin cream, and avoidance of narcotic medications has shown some benefit in the acute setting. Cannabis cessation appears to be the best treatment.		mondo.json	CHS	http://purl.obolibrary.org/obo/MONDO_0100094		
MONDO:0100095	biolink:Disease	neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene.	OMIM:618170|DOID:0070352	mondo.json	CONDSIAS|neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	http://purl.obolibrary.org/obo/MONDO_0100095	DOID:0070352|https://omim.org/entry/618170	
MONDO:0100096	biolink:Disease	COVID-19	A disease caused by infection with severe acute respiratory syndrome coronavirus 2.	ICD11:RA01.0|DOID:0080600|ICD11:RA01.2|MESH:D000086382|ICD10CM:U07.1|MESH:C000657245|SCTID:840539006	mondo.json	severe acute respiratory syndrome coronavirus 2 infectious disease|beta-CoVs|β-coronavirus|coronavirus disease 2019|2019-nCoV infection|2019 novel coronavirus|β-CoVs|2019-nCoV|2019 novel coronavirus infection|betacoronavirus|β-CoV|severe acute respiratory syndrome coronavirus 2|SARS-coronavirus 2|SARS-CoV-2|beta-CoV	http://purl.obolibrary.org/obo/MONDO_0100096	http://purl.bioontology.org/ontology/ICD10CM/U07.1|http://identifiers.org/mesh/D000086382|DOID:0080600|http://identifiers.org/snomedct/840539006	
MONDO:0100097	biolink:Disease	congenital alveolar dysplasia due to TBX4	Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the TBX4 gene.		mondo.json	CAD due to TBX4	http://purl.obolibrary.org/obo/MONDO_0100097		
UBERON:0003639	biolink:AnatomicalEntity	manual digit 5 phalanx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003639		
MONDO:0100099	biolink:Disease	retrograde cricopharyngeus dysfunction	A syndrome characterized by the inability to belch, abdominal bloating and discomfort/nausea, or chest pain, especially after eating, socially awkward gurgling noises from the chest and lower neck as though the esophagus is churning and straining to eject the air, excessive flatulence, social inhibition, and difficulty vomiting (common but not universal). Botulinum toxin (BT) injection into the cricopharyngeus muscle (CPM) is done for both diagnosis and treatment of R-CPD.		mondo.json	R-CPD	http://purl.obolibrary.org/obo/MONDO_0100099		
HGNC:1943	biolink:NamedThing	CHN1			mondo.json		http://identifiers.org/hgnc/1943		
GO:0045444	biolink:NamedThing	fat cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of an adipocyte, an animal connective tissue cell specialized for the synthesis and storage of fat.		mondo.json	adipocyte differentiation|adipose cell differentiation|adipogenesis|adipocyte cell differentiation	http://purl.obolibrary.org/obo/GO_0045444		
UBERON:0003645	biolink:AnatomicalEntity	metacarpal bone of digit 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003645		
HGNC:1952	biolink:NamedThing	CHRM3			mondo.json		http://identifiers.org/hgnc/1952		
NCBITaxon:452284	biolink:OrganismalEntity	Ustilaginomycotina		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_452284		
UBERON:0003643	biolink:AnatomicalEntity	respiratory system arterial blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003643		
UBERON:0003644	biolink:AnatomicalEntity	kidney arterial blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003644		
MONDO:0100090	biolink:Disease	congenital alveolar dysplasia due to FGF10	Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the FGF10 gene.		mondo.json	CAD due to FGF10	http://purl.obolibrary.org/obo/MONDO_0100090		
MONDO:0100091	biolink:Disease	inherited pseudoxanthoma elasticum	An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician.	GARD:0009643	mondo.json	inherited Gronblad Strandberg syndrome|inherited PXE	http://purl.obolibrary.org/obo/MONDO_0100091		gard_rare
UBERON:0003640	biolink:AnatomicalEntity	pedal digit 1 phalanx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003640		
HGNC:1958	biolink:NamedThing	CHRNA4			mondo.json		http://identifiers.org/hgnc/1958		
HGNC:1955	biolink:NamedThing	CHRNA1			mondo.json		http://identifiers.org/hgnc/1955		
HGNC:1956	biolink:NamedThing	CHRNA2			mondo.json		http://identifiers.org/hgnc/1956		
UBERON:0003625	biolink:AnatomicalEntity	manual digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003625		
GO:0045453	biolink:NamedThing	bone resorption	The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products.		mondo.json		http://purl.obolibrary.org/obo/GO_0045453		
UBERON:2001544	biolink:AnatomicalEntity	sublingual cartilage			mondo.json		http://purl.obolibrary.org/obo/UBERON_2001544		
HGNC:1962	biolink:NamedThing	CHRNB2			mondo.json		http://identifiers.org/hgnc/1962		
UBERON:0003635	biolink:AnatomicalEntity	pedal digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003635		
HGNC:1960	biolink:NamedThing	CHRNA7			mondo.json		http://identifiers.org/hgnc/1960		
HGNC:1961	biolink:NamedThing	CHRNB1			mondo.json		http://identifiers.org/hgnc/1961		
UBERON:0003631	biolink:AnatomicalEntity	pedal digit 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003631		
HGNC:1968	biolink:NamedThing	LYST			mondo.json		http://identifiers.org/hgnc/1968		
UBERON:0003618	biolink:AnatomicalEntity	aorta tunica media			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003618		
UBERON:0003619	biolink:AnatomicalEntity	aorta tunica intima			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003619		
UBERON:0003616	biolink:AnatomicalEntity	bronchus elastic tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003616		
OBO:mondo#EXCLUDE	biolink:NamedThing	Synonym to be removed from public release but maintained in edit version as record of external usage			mondo.json		http://purl.obolibrary.org/obo/mondo#EXCLUDE		
HGNC:1966	biolink:NamedThing	CHRNE			mondo.json		http://identifiers.org/hgnc/1966		
UBERON:0003617	biolink:AnatomicalEntity	trachea elastic tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003617		
HGNC:1967	biolink:NamedThing	CHRNG			mondo.json		http://identifiers.org/hgnc/1967		
UBERON:0003614	biolink:AnatomicalEntity	blood vessel elastic tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003614		
UBERON:0003615	biolink:AnatomicalEntity	lung elastic tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003615		
HGNC:1965	biolink:NamedThing	CHRND			mondo.json		http://identifiers.org/hgnc/1965		
CHEBI:22492	biolink:ChemicalSubstance	amino aldehyde	Any aldehyde which contains an amino group.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_22492		
HGNC:1974	biolink:NamedThing	CHUK			mondo.json		http://identifiers.org/hgnc/1974		
HGNC:1971	biolink:NamedThing	CHST3			mondo.json		http://identifiers.org/hgnc/1971		
UBERON:0003620	biolink:AnatomicalEntity	manual digit 1 phalanx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003620		
MONDO:0016180	biolink:Disease	obsolete hematological disease associated with an acquired peripheral neuropathy		Orphanet:209016|UMLS:CN200930	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016180	UMLS:CN200930|Orphanet:209016	ordo_group_of_disorders
MONDO:0016181	biolink:Disease	obsolete solid tumor associated with an acquired peripheral neuropathy		Orphanet:209019|UMLS:CN200931	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016181	UMLS:CN200931|Orphanet:209019	ordo_group_of_disorders
MONDO:0016182	biolink:Disease	qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase		Orphanet:209024	mondo.json	qualitative or quantitative defects of protein POMGNT1	http://purl.obolibrary.org/obo/MONDO_0016182	Orphanet:209024	disease_grouping|ordo_group_of_disorders
MONDO:0016183	biolink:Disease	qualitative or quantitative defects of protein glycosyltransferase-like		Orphanet:209027	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016183	Orphanet:209027	disease_grouping|ordo_group_of_disorders
MONDO:0004199	biolink:Disease	vulvar keratinizing squamous cell carcinoma	A squamous cell carcinoma that arises from the vulva and is characterized by the presence of keratin pearls.	UMLS:C2109334|NCIT:C40284|DOID:7363	mondo.json	vulvar keratinizing squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004199	NCIT:C40284|DOID:7363|UMLS:C2109334	
MONDO:0004198	biolink:Disease	testicular yolk sac tumor, solid pattern	A yolk sac tumor that arises from the testis and is characterized by the presence of aggregates of polygonal malignant cells with clear cytoplasm and prominent nucleoli.	NCIT:C39925|DOID:7360|UMLS:C1515312	mondo.json	solid pattern testicular yolk sac tumor|testicular yolk sac tumor, solid pattern	http://purl.obolibrary.org/obo/MONDO_0004198	DOID:7360|UMLS:C1515312|NCIT:C39925	
MONDO:0004195	biolink:Disease	thymic dysplasia	The developmental arrest and architectural distortion of the thymus that results in immunodeficiency.	DOID:7350|UMLS:C1331541|NCIT:C27802	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004195	UMLS:C1331541|NCIT:C27802|DOID:7350	
MONDO:0004194	biolink:Disease	ovarian stromal hyperthecosis	A non-neoplastic disorder that usually affects postmenopausal women. It is characterized by the leuteinization of ovarian stromal cells. The ovaries are bilaterally involved and enlarged. When it affects women in reproductive age, it causes virilization, high blood pressure, and increased insulin levels.	UMLS:C1518743|NCIT:C40446|DOID:7347	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004194	NCIT:C40446|UMLS:C1518743|DOID:7347	
MONDO:0004197	biolink:Disease	male urethral cancer	A cancer involving a male urethra.	DOID:736|UMLS:C1518164|NCIT:C39867	mondo.json	malignant neoplasm of male urethra|male urethra cancer|Male urethral malignant neoplasm|cancer of male urethra|malignant male urethra neoplasm	http://purl.obolibrary.org/obo/MONDO_0004197	DOID:736|UMLS:C1518164|NCIT:C39867	
MONDO:0004196	biolink:Disease	rectal sarcomatoid carcinoma	A biphasic rectal carcinoma with a spindle cell, sarcomatoid component.	NCIT:C5556|UMLS:C1335689|DOID:7356	mondo.json	sarcomatoid carcinoma of the rectum|rectum sarcomatoid carcinoma|rectal sarcomatoid carcinoma|sarcomatoid carcinoma of rectum|rectal spindle cell carcinoma|rectal sarcomatoid cancer	http://purl.obolibrary.org/obo/MONDO_0004196	NCIT:C5556|UMLS:C1335689|DOID:7356	
MONDO:0004191	biolink:Disease	nephrogenic adenoma	So-called nephrogenic adenoma is a distinct metaplastic lesion of the urothelium characterized by aggregates of cuboidal or hobnail cells. These cells line thin papillary fronds on the surface or form tubular structures within the lamina propria.	NCIT:C7413|DOID:7334|UMLS:C0334039	mondo.json	nephrogenic adenoma	http://purl.obolibrary.org/obo/MONDO_0004191	NCIT:C7413|UMLS:C0334039|DOID:7334	
MONDO:0004190	biolink:Disease	nephrogenic adenoma of urinary bladder	A metaplastic lesion of the urothelium found in the urinary bladder. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi.	UMLS:C1336892|DOID:7333|NCIT:C7415	mondo.json	nephrogenic adenoma of the urinary bladder|urinary bladder nephrogenic adenoma	http://purl.obolibrary.org/obo/MONDO_0004190	NCIT:C7415|UMLS:C1336892|DOID:7333	
MONDO:0004193	biolink:Disease	pediatric ovarian dysgerminoma	A dysgerminoma that arises from the ovary and occurs in children.	UMLS:C1332988|NCIT:C6550|DOID:7340	mondo.json	pediatric dysgerminoma of ovary|dysgerminoma of ovary of childhood|childhood ovarian dysgerminoma|childhood dysgerminoma|childhood ovarian germinomatous germ cell tumor|childhood dysgerminoma of ovary	http://purl.obolibrary.org/obo/MONDO_0004193	UMLS:C1332988|NCIT:C6550|DOID:7340	
HGNC:26090	biolink:NamedThing	CCDC40			mondo.json		http://identifiers.org/hgnc/26090		
MONDO:0004192	biolink:Disease	urethra cancer	A malignant neoplasm involving the urethra	SCTID:363459007|ICD9:189.3|ICD10CM:C68.0|DOID:734|GARD:0009390|NCIT:C7507|ONCOTREE:UCA	mondo.json	malignant urethra neoplasm|malignant neoplasm of urethra|malignant tumour of urethra|malignant neoplasm of the urethra|malignant urethra tumor|urethral Ca|urethral cancer|malignant tumor of the urethra|urethra cancer|malignant tumor of urethra|cancer of urethra|malignant urethral neoplasm|malignant urethral tumor	http://purl.obolibrary.org/obo/MONDO_0004192	DOID:734|http://identifiers.org/snomedct/363459007|NCIT:C7507|http://purl.bioontology.org/ontology/ICD10CM/C68.0	
OBO:ECTO_9001935	biolink:NamedThing	exposure to oxidising agent	An exposure to oxidising agent.		mondo.json	exposure to oxidising agent	http://purl.obolibrary.org/obo/ECTO_9001935		
MONDO:0016188	biolink:Disease	qualitative or quantitative defects of alphaB-cristallin		Orphanet:209044	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016188	Orphanet:209044	disease_grouping|ordo_group_of_disorders
MONDO:0016189	biolink:Disease	qualitative or quantitative defects of filamin C		Orphanet:209047	mondo.json	qualitative or quantitative defects of filamin type C	http://purl.obolibrary.org/obo/MONDO_0016189	Orphanet:209047	disease_grouping|ordo_group_of_disorders
MONDO:0016184	biolink:Disease	qualitative or quantitative defects of protein O-mannosyltransferase 1		Orphanet:209030	mondo.json	qualitative or quantitative defects of protein O-mannosyltransferase type 1	http://purl.obolibrary.org/obo/MONDO_0016184	Orphanet:209030	disease_grouping|ordo_group_of_disorders
MONDO:0016185	biolink:Disease	qualitative or quantitative defects of protein O-mannosyltransferase 2		Orphanet:209033	mondo.json	qualitative or quantitative defects of protein O-mannosyltransferase type 2	http://purl.obolibrary.org/obo/MONDO_0016185	Orphanet:209033	disease_grouping|ordo_group_of_disorders
MONDO:0016186	biolink:Disease	qualitative or quantitative defects of myofibrillar proteins		Orphanet:209038	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016186	Orphanet:209038	disease_grouping|ordo_group_of_disorders
MONDO:0016187	biolink:Disease	qualitative or quantitative defects of desmin		Orphanet:209041	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016187	Orphanet:209041	ordo_group_of_disorders|disease_grouping
OBO:ECTO_0001566	biolink:NamedThing	exposure to cadmium	An exposure to cadmium molecular entity.		mondo.json	exposure to cadmium molecular entity	http://purl.obolibrary.org/obo/ECTO_0001566		
MONDO:0016170	biolink:Disease	chronic polyradiculoneuropathy	Chronic form of polyradiculoneuropathy.	Orphanet:208978	mondo.json	polyradiculoneuropathy, chronic	http://purl.obolibrary.org/obo/MONDO_0016170	Orphanet:208978	ordo_group_of_disorders|disease_grouping
MONDO:0016171	biolink:Disease	polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies		Orphanet:208981	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016171	Orphanet:208981	ordo_disease
MONDO:0016172	biolink:Disease	acquired sensory ganglionopathy	An instance of sensory ganglionopathy that is acquired during the lifetime of the individual.	Orphanet:208984	mondo.json	acquired sensory ganglionopathy|acquired sensory neuronopathy	http://purl.obolibrary.org/obo/MONDO_0016172	Orphanet:208984	disease_grouping|ordo_group_of_disorders
MONDO:0041154	biolink:Disease	disorder of neck of urinary bladder		SCTID:236644005	mondo.json	functional disorder of bladder neck and sphincter mechanism	http://purl.obolibrary.org/obo/MONDO_0041154	http://identifiers.org/snomedct/236644005	
OBO:ECTO_9001942	biolink:NamedThing	exposure to food additive	An exposure to food additive.		mondo.json	exposure to food additive	http://purl.obolibrary.org/obo/ECTO_9001942		
OBO:ECTO_9001943	biolink:NamedThing	exposure to food acidity regulator	An exposure to food acidity regulator.		mondo.json	exposure to food acidity regulator	http://purl.obolibrary.org/obo/ECTO_9001943		
MONDO:0016177	biolink:Disease	obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy		UMLS:CN200929|Orphanet:209007	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016177	Orphanet:209007|UMLS:CN200929	ordo_group_of_disorders
MONDO:0016178	biolink:Disease	obsolete peripheral neuropathy associated with monoclonal gammopathy		Orphanet:209010	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016178	Orphanet:209010	ordo_group_of_disorders
OBO:ECTO_0001571	biolink:NamedThing	exposure to mercury	An exposure to mercury molecular entity.		mondo.json	exposure to mercury molecular entity	http://purl.obolibrary.org/obo/ECTO_0001571		
MONDO:0016179	biolink:Disease	acquired amyloid peripheral neuropathy		Orphanet:209013	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016179	Orphanet:209013	disease_grouping|ordo_group_of_disorders
MONDO:0016173	biolink:Disease	non-paraneoplastic sensory ganglionopathy		Orphanet:208989	mondo.json	non-paraneoplastic sensory neuronopathy	http://purl.obolibrary.org/obo/MONDO_0016173	Orphanet:208989	ordo_group_of_disorders|disease_grouping
MONDO:0016174	biolink:Disease	paraneoplastic sensory ganglionopathy		Orphanet:208999	mondo.json	paraneoplastic sensory neuronopathy	http://purl.obolibrary.org/obo/MONDO_0016174	Orphanet:208999	ordo_group_of_disorders|disease_grouping
MONDO:0016175	biolink:Disease	cutis laxa	Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.	UMLS:C0010495|Orphanet:209|MedDRA:10011692|GARD:0006227|SCTID:58588007|DOID:3144|MESH:D003483|NCIT:C84663	mondo.json	cutis laxa|elastolysis|loose skin|generalized elastolysis	http://purl.obolibrary.org/obo/MONDO_0016175	http://identifiers.org/mesh/D003483|Orphanet:209|DOID:3144|UMLS:C0010495|http://identifiers.org/snomedct/58588007|NCIT:C84663	gard_rare|disease_grouping|ordo_group_of_disorders
MONDO:0016176	biolink:Disease	axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy		Orphanet:209004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016176	Orphanet:209004	ordo_disease
MONDO:0016160	biolink:Disease	X-linked intellectual disability-epilepsy syndrome		UMLS:CN226857|Orphanet:2076	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016160	Orphanet:2076|UMLS:CN226857	disease_grouping|ordo_group_of_disorders
MONDO:0016161	biolink:Disease	cerebral gigantism-jaw cysts syndrome	Cerebral gigantism-jaw cysts syndrome is characterised by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome.	SCTID:725418006|GARD:0001206|UMLS:CN200907|Orphanet:2081	mondo.json	Cramer Niederdellmann syndrome|cerebral gigantism jaw cysts|Cramer-Niederdellmann syndrome	http://purl.obolibrary.org/obo/MONDO_0016161	Orphanet:2081|UMLS:CN200907|http://identifiers.org/snomedct/725418006	ordo_malformation_syndrome|gard_rare
MONDO:0041161	biolink:Disease	endometrial hyperplasia	A proliferation of the endometrial cells resulting in glandular enlargement and budding. The proliferation may or may not be associated with atypia of the endometrial cells. When the hyperplastic changes are excessive, there is formation of complex epithelial structures (complex endometrial hyperplasia).	MESH:D004714|SCTID:237072009|NCIT:C3013|DOID:0080365|HP:0040298|UMLS:C0014173	mondo.json	hyperplasia of the endometrium|hyperplasia of endometrium|endometrial hyperplasia	http://purl.obolibrary.org/obo/MONDO_0041161	NCIT:C3013|http://identifiers.org/mesh/D004714|UMLS:C0014173|DOID:0080365|http://identifiers.org/snomedct/237072009	obsoletion_candidate
MONDO:0004177	biolink:Disease	benign urethral neoplasm	Abnormal growth of the cells of the urethra (lower urinary tract) without malignant characteristics.	ICD9:223.81|SCTID:92466006|NCIT:C3619|DOID:730	mondo.json	benign urethral tumor|benign urethral neoplasm|benign urethra neoplasm|urethra benign neoplasm|urethral benign neoplasm|benign neoplasm of the urethra|benign neoplasm of urethra|benign urethra tumor|neoplasm. urethra|benign tumor of the urethra|benign tumor of urethra	http://purl.obolibrary.org/obo/MONDO_0004177	NCIT:C3619|DOID:730|http://identifiers.org/snomedct/92466006	
MONDO:0004176	biolink:Disease	childhood extraosseous osteosarcoma	An osteosarcoma arising from the soft tissue, and occurring during childhood.	DOID:7297|UMLS:C1332968|NCIT:C27376	mondo.json	childhood extraosseous osteosarcoma|pediatric extraosseous osteosarcoma|childhood extraskeletal osteosarcoma|pediatric extraskeletal osteosarcoma|extraosseous osteosarcoma of childhood	http://purl.obolibrary.org/obo/MONDO_0004176	DOID:7297|UMLS:C1332968|NCIT:C27376	
MONDO:0041167	biolink:Disease	carcinoid crisis	A life-threatening complication of carcinoid syndrome, and is generally found in people who already have carcinoid syndrome. The crisis may occur suddenly, or it can be associated with stress, chemotherapy, or anesthesia.	UMLS:C0342569|SCTID:237833006	mondo.json	carcinoid crisis	http://purl.obolibrary.org/obo/MONDO_0041167	UMLS:C0342569|http://identifiers.org/snomedct/237833006	
MONDO:0004179	biolink:Disease	obsolete astroblastoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004179		
MONDO:0004178	biolink:Disease	testicular yolk sac tumor, endodermal sinus pattern	A yolk sac tumor that arises from the testis and is characterized by the presence of connective tissue stalks that contain a blood vessel and are lined by cells with clear cytoplasm and prominent nucleoli.	UMLS:C1515303|NCIT:C39927|DOID:7302	mondo.json	endodermal sinus pattern testicular yolk sac tumor|testicular yolk sac tumor, endodermal sinus pattern	http://purl.obolibrary.org/obo/MONDO_0004178	NCIT:C39927|DOID:7302|UMLS:C1515303	
MONDO:0004173	biolink:Disease	adenocarcinoma of skene gland origin	A rare adenocarcinoma arising from Skene gland. It presents as a periurethral or anterior vaginal submucosal mass. It is characterized by morphological features similar to prostate adenocarcinoma.	UMLS:C1527427|DOID:7284|NCIT:C39863	mondo.json	Skene gland carcinoma|carcinoma of paraurethral gland|carcinoma of Skene's gland|carcinoma of the paraurethral gland|adenocarcinoma of Skene gland origin|adenocarcinoma of Skene gland|paraurethral gland adenocarcinoma|paraurethral gland carcinoma|carcinoma of Skene gland	http://purl.obolibrary.org/obo/MONDO_0004173	DOID:7284|UMLS:C1527427|NCIT:C39863	
MONDO:0004172	biolink:Disease	uterine corpus adenocarcinofibroma	A adenocarcinofibroma that involves the body of uterus.	DOID:7281	mondo.json	adenocarcinofibroma of body of uterus|body of uterus adenocarcinofibroma	http://purl.obolibrary.org/obo/MONDO_0004172	DOID:7281	
MONDO:0004175	biolink:Disease	mucin-rich endometrial endometrioid adenocarcinoma		DOID:7293|UMLS:C1513711|NCIT:C8717	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004175	DOID:7293|UMLS:C1513711|NCIT:C8717	
MONDO:0004174	biolink:Disease	secretory uterine corpus endometrioid adenocarcinoma	An endometrioid adenocarcinoma arising from the endometrium. Morphologically it is characterized by the presence of malignant glandular cells containing glycogen vacuoles which are usually subnuclear and reminiscent of early secretory endometrium.	ICDO:8382/3|UMLS:C1336907|NCIT:C27839|DOID:7289	mondo.json	secretory uterine corpus endometrioid adenocarcinoma|endometrial endometrioid adenocarcinoma, secretory variant	http://purl.obolibrary.org/obo/MONDO_0004174	DOID:7289|NCIT:C27839	
MONDO:0004171	biolink:Disease	obsolete congenital epulis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004171		
MONDO:0004170	biolink:Disease	nodular episcleritis		ICD9:379.02|DOID:728|SCTID:70558001|UMLS:C0155352	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004170	DOID:728|UMLS:C0155352|http://identifiers.org/snomedct/70558001	
MONDO:0016166	biolink:Disease	genetic hyperparathyroidism	Genetic hyperparathyroidism.	Orphanet:208596|OMIMPS:145000	mondo.json	genetic hyperparathyroidism	http://purl.obolibrary.org/obo/MONDO_0016166	https://omim.org/phenotypicSeries/PS145000|Orphanet:208596	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0016167	biolink:Disease	optic pathway glioma	Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1).	Orphanet:2086|UMLS:C0796418|NCIT:C8567|GARD:0004107	mondo.json	glioma of the optic tract|glioma of optic tract|optic pathway glioma|visual pathway glioma|optic tract glioma|glioma of visual pathway|glioma of the visual pathway	http://purl.obolibrary.org/obo/MONDO_0016167	Orphanet:2086|UMLS:C0796418|NCIT:C8567	gard_rare|ordo_disease
MONDO:0016168	biolink:Disease	cryopyrin-associated periodic syndrome	Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS).	UMLS:C2316212|MESH:D056587|Orphanet:208650|ICD9:759.89|SCTID:430079001|MedDRA:10068850|NCIT:C84657|GARD:0010927	mondo.json	Cryopyrinopathy|caps	http://purl.obolibrary.org/obo/MONDO_0016168	NCIT:C84657|http://identifiers.org/snomedct/430079001|UMLS:C2316212|http://identifiers.org/mesh/D056587|Orphanet:208650	disease_grouping|ordo_group_of_disorders
MONDO:0016169	biolink:Disease	chronic acquired demyelinating polyneuropathy	Chronic form of acquired peripheral neuropathy.	Orphanet:208974	mondo.json	acquired peripheral neuropathy, chronic|chronic acquired peripheral neuropathy|CADP	http://purl.obolibrary.org/obo/MONDO_0016169	Orphanet:208974	ordo_group_of_disorders|disease_grouping
MONDO:0016162	biolink:Disease	bilateral frontal polymicrogyria	Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person.	Orphanet:208444|GARD:0010783	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016162	Orphanet:208444	gard_rare|ordo_clinical_subtype
MONDO:0016163	biolink:Disease	autosomal dominant cerebellar ataxia type II		UMLS:CN229031|Orphanet:208508	mondo.json	ADCA2|ADCAII|autosomal dominant cerebellar ataxia type II|autosomal dominant cerebellar ataxia type 2	http://purl.obolibrary.org/obo/MONDO_0016163	Orphanet:208508|UMLS:CN229031	disease_grouping|ordo_group_of_disorders
MONDO:0016164	biolink:Disease	herpetiform pemphigus	Herpetiform pemphigus is a rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histologically, minimal or no apparent acantholysis is associated.	UMLS:CN226858|Orphanet:208524	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016164	UMLS:CN226858|Orphanet:208524	ordo_disease
MONDO:0016165	biolink:Disease	genetic hypoparathyroidism	Genetic hypoparathyroidism.	Orphanet:208593	mondo.json	genetic hypoparathyroidism	http://purl.obolibrary.org/obo/MONDO_0016165	Orphanet:208593	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0016150	biolink:Disease	qualitative or quantitative defects of integrin alpha-7		Orphanet:207098	mondo.json	integrinopathy	http://purl.obolibrary.org/obo/MONDO_0016150	Orphanet:207098	disease_grouping|ordo_group_of_disorders
MONDO:0004188	biolink:Disease	iris spindle cell melanoma	A spindle cell melanoma that involves the iris.	NCIT:C6098|DOID:7328|UMLS:C1334287	mondo.json	spindle cell melanoma of iris|spindle cell melanoma of the iris|iris spindle cell melanoma	http://purl.obolibrary.org/obo/MONDO_0004188	UMLS:C1334287|DOID:7328|NCIT:C6098	
MONDO:0004187	biolink:Disease	nodular fasciitis	A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.	ICD10CM:M72.4|ICD9:728.79|UMLS:C0410005|SCTID:400138001|NCIT:C3827|DOID:7327|Orphanet:477742	mondo.json	pseudosarcomatous fasciitis|pseudosarcomatous fibromatosis|nodular fasciitis|fasciitis - nodular	http://purl.obolibrary.org/obo/MONDO_0004187	DOID:7327|UMLS:C0410005|NCIT:C3827|Orphanet:477742|http://identifiers.org/snomedct/400138001|http://purl.bioontology.org/ontology/ICD10CM/M72.4	ordo_disease
MONDO:0004189	biolink:Disease	esophageal tuberculosis	A tuberculosis that involves the esophagus.	ICD9:017.8|ICD9:017.83|ICD9:017.81|SCTID:15284007|ICD9:017.80|UMLS:C0152902|DOID:7332	mondo.json	esophagus tuberculosis|tuberculosis of esophagus	http://purl.obolibrary.org/obo/MONDO_0004189	DOID:7332|UMLS:C0152902|http://identifiers.org/snomedct/15284007	
CHEBI:83403	biolink:ChemicalSubstance	monochlorobenzenes	Any member of the class of chlorobenzenes containing a mono- or poly-substituted benzene ring in which only one substituent is chlorine.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_83403		
MONDO:0004184	biolink:Disease	urethral disorder	A disease involving the urethra.	UMLS:C0041969|MESH:D014522|DOID:732|NCIT:C26903|SCTID:4985009	mondo.json	disease of urethra|urethra disease or disorder|disorder of urethra|urethra disease|disease or disorder of urethra|urethra disorder	http://purl.obolibrary.org/obo/MONDO_0004184	http://identifiers.org/snomedct/4985009|http://identifiers.org/mesh/D014522|DOID:732|UMLS:C0041969|NCIT:C26903	
NCIT:C43431	biolink:NamedThing	Activity	An active process; excludes processes and mechanisms which fulfill biological functions.		mondo.json	Activity|General activity	http://purl.obolibrary.org/obo/NCIT_C43431		http://purl.obolibrary.org/obo/NCIT_C105551|http://purl.obolibrary.org/obo/NCIT_C159503|http://purl.obolibrary.org/obo/NCIT_C159501
MONDO:0004183	biolink:Disease	axonal neuropathy	Any nerve disorder affecting the axon of a nerve.	DOID:7319|SCTID:60703000|NCIT:C27301|UMLS:C0270921	mondo.json	axonal neuropathy|peripheral neuropathy of axon|axon peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0004183	DOID:7319|http://identifiers.org/snomedct/60703000|UMLS:C0270921|NCIT:C27301	
MONDO:0004186	biolink:Disease	cranial nodular fasciitis	A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the cranium. This is an osteolytic lesion. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.	UMLS:C1333162|NCIT:C27248|DOID:7326	mondo.json	cranial pseudosarcomatous fasciitis|cranial nodular fasciitis	http://purl.obolibrary.org/obo/MONDO_0004186	DOID:7326|UMLS:C1333162|NCIT:C27248	
MONDO:0004185	biolink:Disease	ovarian serous cystadenofibroma	A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma.	NCIT:C40032|UMLS:C0877572|DOID:7320	mondo.json	ovarian serous cystadenofibroma|ovary serous cystadenofibroma	http://purl.obolibrary.org/obo/MONDO_0004185	DOID:7320|NCIT:C40032|UMLS:C0877572	
MONDO:0004180	biolink:Disease	benign urinary system neoplasm	A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma.	NCIT:C4893|SCTID:92468007|MESH:D014571|ICD9:223.89|DOID:731|ICD9:223.9	mondo.json	benign urinary tract neoplasm|urinary tract neoplasm|renal system benign neoplasm|neoplasm of urinary system|benign urinary system neoplasm|benign neoplasm of the urinary tract|benign neoplasm of urinary tract|benign urinary tract tumor|tumor of the urinary system|benign tumor of the urinary tract|tumor of urinary tract|benign tumor of urinary tract|urinary system benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0004180	http://identifiers.org/mesh/D014571|http://identifiers.org/snomedct/92468007|DOID:731|NCIT:C4893	
MONDO:0004182	biolink:Disease	stage IVb bladder cancer	Stage IV includes T4b, NO,MO/any T NI, MO/ any T N2 MO,/ any T N3 MO/ any T any N M1 : T4b: Tumor invades the pelvic wall, abdominal wall. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node more than 5 cm in greatest dimension. M1: Distant metastasis.	DOID:7315|UMLS:C1336362|NCIT:C9368	mondo.json	Jewett-Marshall stage D2 urinary bladder cancer|Jewett-Marshall stage D2 urinary bladder carcinoma|Jewett-Marshall bladder cancer|stage IVB urinary bladder cancer|Jewett-Marshall stage D1 bladder cancer|Jewett-Marshall stage D2 bladder cancer|stage IVB urinary bladder carcinoma|stage IVB bladder cancer	http://purl.obolibrary.org/obo/MONDO_0004182	NCIT:C9368|UMLS:C1336362|DOID:7315	
MONDO:0004181	biolink:Disease	breast adenomyoepithelial adenosis	An uncommon variant of breast adenosis characterized by the presence of irregularly shaped glands, epithelial cells with eosinophilic cytoplasm, and prominent myopepithelial cells. Mild atypia may be present.	NCIT:C40391|DOID:7312|UMLS:C1511283	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004181	NCIT:C40391|UMLS:C1511283|DOID:7312	
MONDO:0016159	biolink:Disease	Gemignani syndrome		GARD:0002451|Orphanet:2074|UMLS:C2931587|MESH:C537678	mondo.json	spinocerebellar ataxia associated amyotrophy of the hands and sensorineural deafness|spinocerebellar ataxia-amyotrophy-deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0016159	UMLS:C2931587|Orphanet:2074|http://identifiers.org/mesh/C537678	gard_rare|ordo_malformation_syndrome
HP:0005599	biolink:PhenotypicFeature	Hypopigmentation of hair		UMLS:C3278401	mondo.json	Loss of hair colour|Loss of hair color|Hair hypopigmentation	http://purl.obolibrary.org/obo/HP_0005599		hposlim_core
MONDO:0016155	biolink:Disease	qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan		Orphanet:207113	mondo.json	secondary dystroglycanopathy|secondary alpha-dystroglycanopathy	http://purl.obolibrary.org/obo/MONDO_0016155	Orphanet:207113	ordo_group_of_disorders|disease_grouping
MONDO:0016156	biolink:Disease	qualitative or quantitative defects of FKRP		Orphanet:207119	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016156	Orphanet:207119	ordo_group_of_disorders|disease_grouping
MONDO:0016157	biolink:Disease	qualitative or quantitative defects of fukutin		Orphanet:207122	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016157	Orphanet:207122	disease_grouping|ordo_group_of_disorders
MONDO:0016158	biolink:Disease	narcolepsy-cataplexy syndrome	Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).	ICD10CM:G47.419|EFO:0000614|ICD9:347.0|ICD10CM:G47.4|GARD:0007162|Orphanet:2073|MedDRA:10028713	mondo.json	Gélineau disease|narcolepsy with cataplexy|narcolepsy-cataplexy syndrome|GC)lineau disease|Gelineau's syndrome|narcoleptic syndrome|paroxysmal sleep|Gelineau syndrome	http://purl.obolibrary.org/obo/MONDO_0016158	Orphanet:2073|http://purl.bioontology.org/ontology/ICD10CM/G47.4	gard_rare|ordo_disease
MONDO:0016151	biolink:Disease	qualitative or quantitative defects of perlecan		Orphanet:207101	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016151	Orphanet:207101	disease_grouping|ordo_group_of_disorders
MONDO:0016152	biolink:Disease	qualitative or quantitative defects of calpain		Orphanet:207104	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016152	Orphanet:207104	ordo_group_of_disorders|disease_grouping
MONDO:0016153	biolink:Disease	qualitative or quantitative defects of TRIM32		Orphanet:207107	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016153	Orphanet:207107	ordo_group_of_disorders|disease_grouping
MONDO:0016154	biolink:Disease	qualitative or quantitative defects of myotubularin		Orphanet:207110	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016154	Orphanet:207110	disease_grouping|ordo_group_of_disorders
MONDO:0100000	biolink:Disease	MED12-related intellectual disability syndrome	An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity.		mondo.json	MED12-related intellectual disability syndrome|X-linked syndromic intellectual disability caused by mutation in MED12|MED12 X-linked syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0100000		
MONDO:0100001	biolink:Disease	alpha-gal syndrome	An IgE antibody response to a mammalian oligosaccharide epitope, galactose-alpha-1,3-galactose (alpha-gal).		mondo.json	allergic galactose-alpha-1,3-galactose disease	http://purl.obolibrary.org/obo/MONDO_0100001		
MONDO:0043762	biolink:Disease	tubal pregnancy	An abnormal pregnancy in which the conception is implanted in the fallopian tube.	SCTID:79586000|NCIT:C92946|MESH:D011274	mondo.json	Pregnancies, tubal|fallopian pregnancy|fallopian tube pregnancy|tubal pregnancy|ectopic pregnancy of fallopian tube|tubal Pregnancies|fallopian tube ectopic pregnancy	http://purl.obolibrary.org/obo/MONDO_0043762	http://identifiers.org/mesh/D011274|NCIT:C92946|http://identifiers.org/snomedct/79586000	
MONDO:0100002	biolink:Disease	food protein-induced allergic proctocolitis	A benign inflammatory colitis caused by a non-IgE-mediated immune reaction to ingested food proteins.		mondo.json	milk protein proctocololitis|FPIPC|allergic proctocolitis	http://purl.obolibrary.org/obo/MONDO_0100002		
MONDO:0100003	biolink:Disease	susceptibility to angioedema induced by ACE inhibitors	An inherited susceptibility or predisposition to developing renin-angiotensin-aldosterone system-blocker-induced angioedema.	OMIM:300909	mondo.json	angioedema induced by ACE inhibitors, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0100003	https://omim.org/entry/300909	
MONDO:0043765	biolink:Disease	presbycusis	Bilateral hearing loss caused by progressive degeneration of cochlear structures and central auditory pathways, typically associated with the aging process.	NCIT:C116367|SCTID:49526009|MESH:D011304	mondo.json	senile deafness|presbycusis|age-related hearing loss|presbyacusia|Presbycuses	http://purl.obolibrary.org/obo/MONDO_0043765	NCIT:C116367|http://identifiers.org/mesh/D011304|http://identifiers.org/snomedct/49526009	
HGNC:26054	biolink:NamedThing	SLC25A38			mondo.json		http://identifiers.org/hgnc/26054		
MONDO:0100004	biolink:Disease	mast cell activation syndrome	A clinically defined disease states with a largely unknown morphological background. Acute mast cell activation (MCA) is commonly seen in allergic reactions and often leads to the clinical signs and symptoms of anaphylaxis. Severe or even life‐threatening MCA may occur when the burden of mast cells is high and/or these cells are in an hyperactivated state. Mastocytosis may be associated with mast cell activation syndrome (MCAS).	GARD:0012981	mondo.json	disorder of mast cell activation|MACS|mast cell activation disease	http://purl.obolibrary.org/obo/MONDO_0100004		
MONDO:0100005	biolink:Disease	primary mast cell activation syndrome	Mast cell activation syndrome where KIT-mutated and clonal mast cells are detected.		mondo.json	primary MACS	http://purl.obolibrary.org/obo/MONDO_0100005		
MONDO:0100006	biolink:Disease	secondary mast cell activation syndrome	Mast cell activation syndrome where an underlying inflammatory disease is present, often in the form of an IgE-dependent allergy, but there are no KIT-mutated mast cells.		mondo.json	secondary MACS	http://purl.obolibrary.org/obo/MONDO_0100006		
GO:0008484	biolink:NamedThing	sulfuric ester hydrolase activity	Catalysis of the reaction: RSO-R' + H2O = RSOOH + R'H. This reaction is the hydrolysis of a sulfuric ester bond, an ester formed from sulfuric acid, O=SO(OH)2.		mondo.json	sulphuric ester hydrolase activity|sulfatase activity	http://purl.obolibrary.org/obo/GO_0008484		
MONDO:0100007	biolink:Disease	obsolete chronic inflammatory demyelinating polyneuropathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0100007		
MONDO:0100008	biolink:Disease	food protein-induced enterocolitis syndrome	An eosinophilic gastrointestinal disorder triggered by food that is non-IgE-mediated.		mondo.json	FPIES|delayed food allergy	http://purl.obolibrary.org/obo/MONDO_0100008		
GO:0008483	biolink:NamedThing	transaminase activity	Catalysis of the transfer of an amino group to an acceptor, usually a 2-oxo acid.		mondo.json	aminotransferase activity	http://purl.obolibrary.org/obo/GO_0008483		
CHR:9606-chrXq27	biolink:NamedThing	Xq27 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chrXq27		
CHR:9606-chrXq26	biolink:NamedThing	Xq26 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chrXq26		
MONDO:0043759	biolink:Disease	abdominal ectopic pregnancy	Ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs.	MESH:D011269|SCTID:82661006|NCIT:C92921	mondo.json	abdomen ectopic pregnancy|Pregnancies, abdominal|ectopic pregnancy of abdomen|abdominal pregnancy|abdominal Pregnancies|intra-abdominal pregnancy	http://purl.obolibrary.org/obo/MONDO_0043759	http://identifiers.org/mesh/D011269|NCIT:C92921|http://identifiers.org/snomedct/82661006	
CHR:9606-chrXq25	biolink:NamedThing	Xq25 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chrXq25		
HGNC:26050	biolink:NamedThing	TMEM70			mondo.json		http://identifiers.org/hgnc/26050		
CHR:9606-chrXq28	biolink:NamedThing	Xq28 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chrXq28		
HGNC:14074	biolink:NamedThing	FMN2			mondo.json		http://identifiers.org/hgnc/14074		
HGNC:14082	biolink:NamedThing	ANLN			mondo.json		http://identifiers.org/hgnc/14082		
MONDO:0100010	biolink:Disease	tendinopathy	Disorders that are causes by overuse of tendons.	EFO:1001434|SCTID:68172002	mondo.json	disease or disorder of tendon|disorder of tendon|disease of tendon|tendon disease|tendon disease or disorder	http://purl.obolibrary.org/obo/MONDO_0100010	http://identifiers.org/snomedct/68172002	
MONDO:0100011	biolink:Disease	tendinosis	The chronic degeneration of a tendon without inflammation.	SCTID:724152009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0100011	http://identifiers.org/snomedct/724152009	
MONDO:0100012	biolink:Disease	paratenonitis	Inflammation of the outer layer of the tendon (paratenon) alone, whether or not the paratenon is lined by synovium.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100012		
MONDO:0100013	biolink:Disease	paratenonitis with tendinosis	Paratenonitis associated with intratendinous degeneration.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100013		
MONDO:0100014	biolink:Disease	autoimmune retinopathy	An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss.	UMLS:C3203657|SCTID:724809006|GARD:0012034	mondo.json	AIR|autoimmune disease of retina|retina autoimmune disease	http://purl.obolibrary.org/obo/MONDO_0100014	http://identifiers.org/snomedct/724809006|UMLS:C3203657	
MONDO:0041114	biolink:Disease	peripheral ischemia	Deficient blood distribution to the limbs caused by narrowing or obstruction of the lumen of the peripheral arteries.	SCTID:233958001	mondo.json	peripheral ischemic vascular disease|peripheral ischemia	http://purl.obolibrary.org/obo/MONDO_0041114	http://identifiers.org/snomedct/233958001	
MONDO:0100015	biolink:Disease	adult-onset segmental dystonia			mondo.json	an adult-onset, focal or segmental, isolated dystonia that is characterized by cervical or cranial dystonia that often begins in the fourth decade (range 7-54 years).|DYT-GNAL	http://purl.obolibrary.org/obo/MONDO_0100015		
MONDO:0043775	biolink:Disease	respiratory paralysis	Complete or severe weakness of the muscles of respiration. This condition may be associated with motor neuron diseases; peripheral nerve diseases; neuromuscular junction diseases; spinal cord diseases; injury to the phrenic nerve; and other disorders.	MESH:D012133|SCTID:64228003	mondo.json	paralysis, respiratory muscle|paralysis of diaphragm|respiratory muscle paralysis|diaphragmatic paralysis|paralysis, respiratory|muscle paralysis, respiratory|paralysis, diaphragmatic|muscle paralyses, respiratory	http://purl.obolibrary.org/obo/MONDO_0043775	http://identifiers.org/mesh/D012133|http://identifiers.org/snomedct/64228003	
MONDO:0100016	biolink:Disease	early-onset generalized dystonia			mondo.json	early-onset, generalized dystonia with mild syndromic features|A generalized isolated dystonia characterized by early-onset, which may be clinically indistinguishable from DYT-TOR1A and may be the most common cause of early-onset generalized dystonia, at least outside the Askenazi Jewish population.|early-onset generalized isolated dystonia|DYT-KMT2B	http://purl.obolibrary.org/obo/MONDO_0100016		
MONDO:0100017	biolink:Disease	pityriasis rubra pilaris	A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP).	MESH:D010916|GARD:0007401|SCTID:3755001|ICD9:696.4|DOID:9212|ICD10CM:L44.0|NCIT:C85014|UMLS:C0032027	mondo.json		http://purl.obolibrary.org/obo/MONDO_0100017	DOID:9212|http://purl.bioontology.org/ontology/ICD10CM/L44.0|http://identifiers.org/mesh/D010916|UMLS:C0032027|http://identifiers.org/snomedct/3755001|NCIT:C85014	gard_rare
MONDO:0100018	biolink:Disease	adult onset pityriasis rubra pilaris	A pityriasis rubra pilaris that occurs around the fifth or sixth decade of life.	GARD:0007401	mondo.json	adult onset PRP	http://purl.obolibrary.org/obo/MONDO_0100018		
MONDO:0043771	biolink:Disease	radiodermatitis	A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation.	EFO:1001840|SCTID:49084001|MESH:D011855|NCIT:C3349	mondo.json	radiation recall dermatitis|radiation-induced Dermatitides|radiation recall Dermatitides|recall reactions, radiation|Radiodermatitides|reactions, radiation recall|reaction, radiation recall|dermatitis radiation|radiation recall reactions|radiation-induced dermatitis|radiation recall reaction|Dermatitides, radiation-induced|radiation dermatitis|dermatitis, radiation recall|dermatitis, radiation-induced|radiation induced dermatitis|Dermatitides, radiation recall|radiodermatitis|dermatitis, radiation induced|recall reaction, radiation	http://purl.obolibrary.org/obo/MONDO_0043771	http://identifiers.org/mesh/D011855|NCIT:C3349|http://identifiers.org/snomedct/49084001	
MONDO:0100019	biolink:Disease	ECHS1-related paroxysmal dyskinesia	A paroxysmal dyskinesia which manifest as dystonic movements brought on by sustained exercise, that is correlated with a deficiency in the gene ECHS1 (caused by a missence mutation). Onset is typically between age two and four years.		mondo.json	ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesia	http://purl.obolibrary.org/obo/MONDO_0100019		
MONDO:0043768	biolink:Disease	thrombocytopenic purpura	Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors.	MESH:D011696|NCIT:C26870|UMLS:C0857305|SCTID:302873008	mondo.json	purpuras, thrombopenic|purpura, thrombopenic|purpuras, thrombocytopenic|thrombopenic purpura|thrombocytopenic purpuras|thrombocytopenic purpura|thrombopenic purpuras	http://purl.obolibrary.org/obo/MONDO_0043768	NCIT:C26870|UMLS:C0857305|http://identifiers.org/mesh/D011696|http://identifiers.org/snomedct/302873008	
MONDO:0100020	biolink:Disease	atypical childhood epilepsy with centrotemporal spikes	A childhood-onset epilepsy that is characterized by frequent seizures of multiple types, including nocturnal focal motor and fronto-parietal opercular seizures, and daytime focal motor seizures with negative myoclonus and atypical absence seizures. Centrotemporal sharp waves are seen on EEG. During the phase of the epilepsy when seizures are frequent, neuropsychological deficits and motor impairment may be present. These deficits improve when seizures remit.		mondo.json	pseudo-Lennox syndrome|atonic-benign childhood epilepsy with centrotemporal spikes|atypical benign partial epilepsy of childhood	http://purl.obolibrary.org/obo/MONDO_0100020		
MONDO:0100021	biolink:Disease	photosensitive occipital lobe epilepsy	A childhood-onset epilepsy that is characterized by the presence of visually-induced focal occipital lobe seizures. A proportion of patients with this syndrome have developmental delays and learning difficulty.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100021		
MONDO:0031799	biolink:Disease	obsolete rare bone disease related to a common gene or pathway defect		Orphanet:364803	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031799	Orphanet:364803	
MONDO:0100022	biolink:Disease	neonatal/infantile epilepsy syndrome	An epilepsy sydrome that has an onset during the neonatal or infantile stage of life.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100022		
MONDO:0100023	biolink:Disease	self-limited familial and non-familial neonatal seizures	A neonatal/infantile epilepsy sndrome that is characterized by the onset of seizures that start in the in the neonate between day 4 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have normal developmental progress.		mondo.json	self-limited familial neonatal-infantile epilepsy	http://purl.obolibrary.org/obo/MONDO_0100023		
HGNC:26034	biolink:NamedThing	SDHAF2			mondo.json		http://identifiers.org/hgnc/26034		
MONDO:0100024	biolink:Disease	self-limited familial and non-familial infantile seizures	This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100024		
MONDO:0100025	biolink:Disease	epilepsy of infancy with migrating focal seizures	This syndrome is characterized by onset of refractory focal seizures in the first year of life, with associated severe encephalopathy. Focal seizures arise independently in both hemispheres and can migrate from one cortical region to another randomly but consecutively in the same seizure. Seizures are often prolonged with episodes of status epilepticus. Prognosis is poor with severe neurological disability and reduced life expectancy, although a milder evolution has been reported in a few children.	UMLS:C4518639|SCTID:733195008	mondo.json		http://purl.obolibrary.org/obo/MONDO_0100025	UMLS:C4518639|http://identifiers.org/snomedct/733195008	
MONDO:0043786	biolink:Disease	serositis	Inflammation of a serous membrane.	NCIT:C70428|MESH:D012700|SCTID:370469003	mondo.json	serositis|inflammation of serous membrane|Serositides|serous membrane inflammation	http://purl.obolibrary.org/obo/MONDO_0043786	http://identifiers.org/mesh/D012700|http://identifiers.org/snomedct/370469003|NCIT:C70428	
HGNC:26031	biolink:NamedThing	PIGV			mondo.json		http://identifiers.org/hgnc/26031		
MONDO:0100026	biolink:Disease	myoclonic encephalopathy in non-progressive disorder	This group of epilepsies are typically is characterized by onset of seizures from day 1 of life to 5 years (peak 12 months). Both sexes are affected, however the male to female ratio is 1:2. Antecedent (including birth) history, head size, neurological and developmental findings reflect the underlying cause (if known). Myoclonic status epilepticus is often the initial presenting seizure type, however other initial seizure types may also occur. Prognosis is unfavorable with severe neurological and developmental impairments typically seen.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100026		
MONDO:0100027	biolink:Disease	obsolete febrile seizures plus, genetic epilepsy with febrile seizures plus			mondo.json		http://purl.obolibrary.org/obo/MONDO_0100027		
HGNC:26038	biolink:NamedThing	TMEM127			mondo.json		http://identifiers.org/hgnc/26038		
MONDO:0100028	biolink:Disease	immune epilepsy	Epilepsies that have a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100028		
MONDO:0043783	biolink:Disease	sclerema neonatorum	A diffuse hardening of skin and subcutaneous adipose tissue, associated with minimal inflammation without fat necrosis, that typically affects critically ill preterm neonates during the first week of life.	MESH:D012593|NCIT:C35009|SCTID:206539008	mondo.json	sclerema adiposum|underwood's disease|sclerema neonatorum	http://purl.obolibrary.org/obo/MONDO_0043783	http://identifiers.org/snomedct/206539008|http://identifiers.org/mesh/D012593|NCIT:C35009	
MONDO:0100029	biolink:Disease	antibody mediated epilepsy	An immune epilepsy where the underlying cause is antibody mediated.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100029		
MONDO:0043777	biolink:Disease	rhinophyma	Progressive enlargement of the nose due to hypertrophy of the sebaceous glands of the tip of the nose and fibrosis. It usually affects older men and is associated with long-standing acne rosacea. It presents as a pink lobulated mass with dilated vessels in the nose.	UMLS:C0035466|MESH:D012224|NCIT:C34989|SCTID:19877001	mondo.json	Rhinophymas|rhinophyma|hypertrophic rosacea	http://purl.obolibrary.org/obo/MONDO_0043777	http://identifiers.org/mesh/D012224|NCIT:C34989|UMLS:C0035466|http://identifiers.org/snomedct/19877001	
CHR:9606-chr7q31	biolink:NamedThing	7q31 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr7q31		
NCBITaxon:104454	biolink:OrganismalEntity	Heterophyes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_104454		
MONDO:0016191	biolink:Disease	qualitative or quantitative defects of titin		Orphanet:209053	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016191	Orphanet:209053	ordo_group_of_disorders|disease_grouping
MONDO:0016192	biolink:Disease	qualitative or quantitative defects of telethonin		Orphanet:209056	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016192	Orphanet:209056	ordo_group_of_disorders|disease_grouping
MONDO:0016193	biolink:Disease	qualitative or quantitative defects of alpha-actin		Orphanet:209059	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016193	Orphanet:209059	ordo_group_of_disorders|disease_grouping
MONDO:0016194	biolink:Disease	qualitative or quantitative defects of nebulin		Orphanet:209182	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016194	Orphanet:209182	disease_grouping|ordo_group_of_disorders
MONDO:0100030	biolink:Disease	adolescent/adult-onset epilepsy syndrome	An epilepsy syndrome that has an onset during the adolescent or adult stage of life.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100030		
MONDO:0100031	biolink:Disease	adolescent/adult onset autosomal dominant epilepsy with auditory features	A genetic focal epilepsy, with focal sensory auditory seizures seen in family members. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled.		mondo.json	autosomal dominant partial/lateral temporal epilepsy with auditory features	http://purl.obolibrary.org/obo/MONDO_0100031		
MONDO:0100032	biolink:Disease	familial temporal lobe epilepsy syndrome	This syndrome is identified in an individual who has seizures with temporal lobe features with a family history of similar seizures. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100032		
CHR:9606-chr7q36	biolink:NamedThing	7q36 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr7q36		
MONDO:0016190	biolink:Disease	qualitative or quantitative defects of protein ZASP		Orphanet:209050	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016190	Orphanet:209050	ordo_group_of_disorders|disease_grouping
MONDO:0100033	biolink:Disease	metabolic epilepsy	Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100033		
MONDO:0100034	biolink:Disease	cerebral folate deficiency	Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100034		
MONDO:0100035	biolink:Disease	structural epilepsy	Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0100035		
MONDO:0100036	biolink:Disease	variable age onset epilepsy	An epilepsy syndrome that has an onset during variable ages and stages of life.	DOID:0050706	mondo.json	variable age at onset electroclinical syndrome	http://purl.obolibrary.org/obo/MONDO_0100036	DOID:0050706	
MONDO:0100037	biolink:Disease	juvenile onset pityriasis rubra pilaris	A pityriasis rubra pilaris that has a juvenile onset. The peak incidence has a bimodal distribution, with the first peak at age six to seven yearss. The classical childhood-onset subtype of PRP usually develops in the late teenage years but may also be seen in the first few years of life.	GARD:0007401	mondo.json	juvenile onset PRP	http://purl.obolibrary.org/obo/MONDO_0100037		
MONDO:0043797	biolink:Disease	spinal cord injury	Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.).	SCTID:90584004|EFO:1001919|MESH:D013119|Orphanet:90058	mondo.json	injury of spinal cord|Contusions, spinal cord|spinal cord injury|traumatic myelopathy|post traumatic myelopathy|Traumas, spinal cord|Myelopathies, traumatic|cord Contusions, spinal|traumatic Myelopathies|spinal cord Traumas|post-traumatic myelopathy|cord laceration, spinal|myelopathy, traumatic|cord Transections, spinal|cord Traumas, spinal|spinal cord transection|post-traumatic Myelopathies|spinal cord Lacerations|spinal cord Contusions|cord injury, spinal|spinal cord laceration|cord trauma, spinal|spinal cord contusion|cord transection, spinal|cord Lacerations, spinal|cord Injuries, spinal|Injuries, spinal cord|spinal cord Transections|cord contusion, spinal|myelopathy, post-traumatic|trauma, spinal cord|injury, spinal cord|Myelopathies, post-traumatic|contusion, spinal cord|spinal cord trauma|Transections, spinal cord|Lacerations, spinal cord|laceration, spinal cord|transection, spinal cord	http://purl.obolibrary.org/obo/MONDO_0043797	http://identifiers.org/snomedct/90584004|Orphanet:90058|http://identifiers.org/mesh/D013119	
MONDO:0100038	biolink:Disease	complex neurodevelopmental disorder	A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy).		mondo.json	complex neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0100038		
MONDO:0100039	biolink:Disease	CDKL5 disorder	A monogenic disease that has material basis in mutation in the CDKL5 gene.	GARD:0012173	mondo.json	CDKL5|CDKL5-related disorder|CDKL5 inherited genetic disease|CDKL5 disorder|inherited genetic disease caused by mutation in CDKL5	http://purl.obolibrary.org/obo/MONDO_0100039		
CHR:9606-chrXq22	biolink:NamedThing	Xq22 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chrXq22		
GO:0008482	biolink:NamedThing	sulfite oxidase activity	Catalysis of the reaction: H(2)O + O(2) + sulfite = H(2)O(2) + H(+) + sulfate.		mondo.json	sulphite oxidase activity|sulfite:oxygen oxidoreductase activity	http://purl.obolibrary.org/obo/GO_0008482		
GO:0008480	biolink:NamedThing	sarcosine dehydrogenase activity	Catalysis of the reaction: sarcosine + H2O + electron-transfer flavoprotein = glycine + formaldehyde + reduced electron-transfer flavoprotein.		mondo.json	monomethylglycine dehydrogenase activity|sarcosine N-demethylase activity|sarcosine:acceptor oxidoreductase (demethylating)|sarcosine:(acceptor) oxidoreductase (demethylating)	http://purl.obolibrary.org/obo/GO_0008480		
MONDO:0043789	biolink:Disease	serum sickness	Delayed-type hypersensitivity reaction to foreign proteins derived from an animal serum. It occurs approximately six to twenty one days following the administration of the foreign antigen. Symptoms include fever, arthralgias, myalgias, skin eruptions, lymphadenopathy, chest pain, and dyspnea. Certain drugs (e.g., antibiotics, anticancer agents, and anti-inflammatory medications) and infectious disorders (e.g., hepatitis B) may also cause serum sickness-like reaction.	SCTID:72284000|UMLS:C0036830|NCIT:C79718|MESH:D012713|EFO:1001845	mondo.json	transfusion reaction due to serum protein reaction|Sicknesses, serum|sickness, serum|protein sickness|serum reaction|serum sickness|serum Sicknesses|intoxication by serum	http://purl.obolibrary.org/obo/MONDO_0043789	http://identifiers.org/snomedct/72284000|http://identifiers.org/mesh/D012713|UMLS:C0036830|NCIT:C79718	
MONDO:0016199	biolink:Disease	qualitative or quantitative defects of protein SERCA1		Orphanet:209199	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016199	Orphanet:209199	disease_grouping|ordo_group_of_disorders
MONDO:0016195	biolink:Disease	qualitative or quantitative defects of beta-myosin heavy chain (MYH7)		Orphanet:209185	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016195	Orphanet:209185	disease_grouping|ordo_group_of_disorders
HGNC:14064	biolink:NamedThing	HDAC6			mondo.json		http://identifiers.org/hgnc/14064		
MONDO:0016196	biolink:Disease	qualitative or quantitative defects of emerin		Orphanet:209188	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016196	Orphanet:209188	disease_grouping|ordo_group_of_disorders
MONDO:0016197	biolink:Disease	qualitative or quantitative defects of selenoprotein N1		Orphanet:209193	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016197	Orphanet:209193	disease_grouping|ordo_group_of_disorders
MONDO:0016198	biolink:Disease	qualitative or quantitative defects of plectin		Orphanet:209196	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016198	Orphanet:209196	disease_grouping|ordo_group_of_disorders
MONDO:0004239	biolink:Disease	cervical keratinizing squamous cell carcinoma	A variant of cervical squamous cell carcinoma characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present.	DOID:7483|NCIT:C40187|UMLS:C1517658	mondo.json	cervical keratinizing squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004239	NCIT:C40187|DOID:7483|UMLS:C1517658	
MONDO:0004236	biolink:Disease	duodenal somatostatinoma	A somatostatin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of tubulo-glandular structures.	DOID:7479|NCIT:C27407|UMLS:C1333320	mondo.json	duodenal delta cell somatostatin producing tumor|duodenal somatostatinoma|duodenal somatostatin-producing NET|duodenal somatostatin-producing neuroendocrine tumor|duodenal somatostatin producing tumor	http://purl.obolibrary.org/obo/MONDO_0004236	DOID:7479|UMLS:C1333320|NCIT:C27407	
MONDO:0006899	biolink:Disease	pericoronitis	Inflammation of the gingiva surrounding the crown of a tooth.	UMLS:C0031055|SCTID:22240003|DOID:3671|MESH:D010497|EFO:1001098|MedDRA:10034504	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006899	DOID:3671|http://identifiers.org/mesh/D010497|UMLS:C0031055|http://identifiers.org/snomedct/22240003	
MONDO:0004235	biolink:Disease	diverticulitis	An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include abdominal pain, fever, and leukocytosis.	MESH:D004238|NCIT:C26752|SCTID:307496006|EFO:1001460|UMLS:C0012813|DOID:7475	mondo.json	inflammation of digestive tract diverticulum|digestive tract diverticulum inflammation	http://purl.obolibrary.org/obo/MONDO_0004235	DOID:7475|UMLS:C0012813|http://identifiers.org/snomedct/307496006|http://identifiers.org/mesh/D004238|NCIT:C26752	
MONDO:0006897	biolink:Disease	periapical granuloma	Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment.	SCTID:81407003|MedDRA:10060985|MESH:D010484|EFO:1001096|DOID:4617|UMLS:C0031029	mondo.json	apical granuloma|periapical granuloma	http://purl.obolibrary.org/obo/MONDO_0006897	http://identifiers.org/snomedct/81407003|DOID:4617|http://identifiers.org/mesh/D010484|UMLS:C0031029	
MONDO:0004238	biolink:Disease	petrous apex meningioma	A meningioma that affects the petrous apex.	DOID:7482|NCIT:C5271|UMLS:C1335396	mondo.json	petrous ridge meningioma|meningioma of the petrous ridge|meningioma of petrous apex|meningioma of petrous ridge|meningioma of the petrous apex	http://purl.obolibrary.org/obo/MONDO_0004238	DOID:7482|NCIT:C5271|UMLS:C1335396	
MONDO:0006898	biolink:Disease	periarthritis	Inflammation of the tissues around a joint. (Dorland, 27th ed)	DOID:2964|MedDRA:10034464|UMLS:C0031037|SCTID:50921008|EFO:1001097|MESH:D010489	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006898	http://identifiers.org/mesh/D010489|http://identifiers.org/snomedct/50921008|DOID:2964|UMLS:C0031037	
MONDO:0004237	biolink:Disease	large cell carcinoma with rhabdoid phenotype	A rare poorly differentiated morphologic variant of large cell lung carcinoma characterized by the presence of rhabdoid cells.	DOID:7480|UMLS:C1265997|NCIT:C6876|ICDO:8014/3|ONCOTREE:RLCLC	mondo.json	RLCLC|large cell lung carcinoma with rhabdoid phenotype|large cell carcinoma with rhabdoid phenotype (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0004237	DOID:7480|UMLS:C1265997|NCIT:C6876	
MONDO:0006895	biolink:Disease	penile neoplasm	A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma.	DOID:11624|ONCOTREE:PENIS|ICD9:239.5|NCIT:C3317|EFO:1001094|MESH:D010412|SCTID:126896003|MedDRA:10061913|UMLS:C0030849	mondo.json	penile neoplasm|tumor of the penis|neoplasm of penis|penis neoplasm (disease)|penile tumor|penile neoplasms|neoplasm of the penis|tumor of penis|penis tumor|penis neoplasm	http://purl.obolibrary.org/obo/MONDO_0006895	UMLS:C0030849|http://identifiers.org/mesh/D010412|http://identifiers.org/snomedct/126896003|DOID:11624|NCIT:C3317	
MONDO:0004232	biolink:Disease	large cell keratinizing variant squamous cell breast carcinoma	A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of large malignant cells that exhibit keratinization.	UMLS:C1519486|DOID:7461|NCIT:C40357	mondo.json	squamous cell breast carcinoma, large cell keratinizing variant	http://purl.obolibrary.org/obo/MONDO_0004232	UMLS:C1519486|DOID:7461|NCIT:C40357	
MONDO:0004231	biolink:Disease	spindle cell variant squamous cell breast carcinoma	A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of spindle-shaped malignant cells.	UMLS:C1519487|NCIT:C40358|ONCOTREE:MASCC|DOID:7460	mondo.json	metaplastic adenocarcinoma with spindle cell differentiation|squamous cell breast carcinoma, spindle cell variant	http://purl.obolibrary.org/obo/MONDO_0004231	UMLS:C1519487|DOID:7460|NCIT:C40358	
MONDO:0006896	biolink:Disease	peptic esophagitis	Inflammation of the esophagus that is caused by the reflux of gastric juice with contents of the stomach and duodenum.	DOID:13976|UMLS:C0014869|EFO:1001095|MESH:D004942|SCTID:57643001|ICD9:530.11	mondo.json	reflux esophagitis|reflux oesophagitis|peptic esophagitis|peptic reflux disease	http://purl.obolibrary.org/obo/MONDO_0006896	UMLS:C0014869|http://identifiers.org/snomedct/57643001|DOID:13976|http://identifiers.org/mesh/D004942	
MONDO:0004234	biolink:Disease	chronic lymphoproliferative disorder of NK-cells	An Epstein-Barr virus negative disorder with a chronic clinical course affecting predominantly adults and characterized by the proliferation of large granular lymphocytes with natural killer cell immunophenotype. The T-cell receptor genes are not rearranged.	SCTID:722955006|Orphanet:512017|ICDO:9831/3|DOID:7465|NCIT:C39591|UMLS:C1512709	mondo.json	chronic NK-LGL lymphoproliferative disorder|CLPD-NK|NK-type lymphoproliferative disorder of granular lymphocytes|NK-LGL leukemia|NK-LGLL|indolent NK-cell lymphoproliferative disorder|NK-cell large granular lymphocyte lymphocytosis|natural killer-cell large granular lymphocyte leukemia|chronic NK-cell lymphocytosis|chronic NK-large granular lymphocyte lymphoproliferative disorder|chronic NK lymphocytosis|chronic lymphoproliferative disorder of natural killer cells|NK-cell lineage granular lymphocyte proliferative disorder|CNKL|indolent large granular NK-cell lymphoproliferative disorder|chronic lymphoproliferative disorder of NK-cells	http://purl.obolibrary.org/obo/MONDO_0004234	http://identifiers.org/snomedct/722955006|Orphanet:512017|UMLS:C1512709|NCIT:C39591|DOID:7465	ordo_disease
MONDO:0006893	biolink:Disease	Pasteurella hemorrhagic septicemia	Any of several bacterial diseases, usually caused by pasteurella multocida, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans.	SCTID:198462004|EFO:1001091|MESH:D006483	mondo.json	septicemia, hemorrhagic|hemorrhagic bacteremia|Septicaemia, hemorrhagic|haemorrhagic bacteremia|Septicaemia, haemorrhagic|septicemia, haemorrhagic|haemorrhagic Septicaemia|bacteremia, haemorrhagic|hemorrhagic Septicaemia|bacteremia, hemorrhagic|haemorrhagic septicemia	http://purl.obolibrary.org/obo/MONDO_0006893	http://identifiers.org/mesh/D006483|http://identifiers.org/snomedct/198462004	
MONDO:0004233	biolink:Disease	childhood pleomorphic rhabdomyosarcoma	A rare aggressive rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells.	UMLS:C0279614|DOID:7463|NCIT:C7959	mondo.json	pediatric pleomorphic rhabdomyosarcoma|pleomorphic childhood rhabdomyosarcoma|Pleomorphic rhabdomyosarcoma|childhood anaplastic rhabdomyosarcoma|pleomorphic rhabdomyosarcoma of childhood	http://purl.obolibrary.org/obo/MONDO_0004233	UMLS:C0279614|NCIT:C7959|DOID:7463	
MONDO:0006894	biolink:Disease	patellofemoral pain syndrome	A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome.	MedDRA:10049143|MESH:D046788|DOID:14284|EFO:1001092|UMLS:C0877149|SCTID:430725003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006894	DOID:14284|UMLS:C0877149|http://identifiers.org/snomedct/430725003|http://identifiers.org/mesh/D046788	
MONDO:0006891	biolink:Disease	partial motor epilepsy	A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles.	SCTID:128612007|EFO:1001089|DOID:3327|ICD9:780.39|MESH:D020938	mondo.json	epilepsy, focal motor|focal motor seizure	http://purl.obolibrary.org/obo/MONDO_0006891	DOID:3327|http://identifiers.org/snomedct/128612007|http://identifiers.org/mesh/D020938	
MONDO:0006892	biolink:Disease	partial sensory epilepsy	A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (epilepsy, complex partial).	MESH:D020937|DOID:3330|EFO:1001090	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006892	DOID:3330|http://identifiers.org/mesh/D020937	
MONDO:0004230	biolink:Disease	adenomatoid tumor	A benign neoplasm arising from mesothelial cells. It is characterized by the formation of glandular and tubular patterns. It can occur in several anatomic sites including the pleura, peritoneum, and epididymis.	ICDO:9052/0|ICDO:9050/0|MESH:D018254|DOID:746|NCIT:C3762|UMLS:C0206675|ICDO:9054/0	mondo.json	benign mesothelial neoplasm|adenomatoid tumor NOS (morphologic abnormality)|adenomatoid tumor, benign|adenomatoid tumor (morphologic abnormality)|benign mesothelial tumor|benign neoplasm of the mesothelium|benign neoplasm of mesothelium|benign tumor of the mesothelium|benign tumor of mesothelium|benign mesothelioma|benign localized epithelial mesothelioma|mesothelioma, benign|adenomatoid tumor	http://purl.obolibrary.org/obo/MONDO_0004230	DOID:746|UMLS:C0206675|http://identifiers.org/mesh/D018254|NCIT:C3762	
MONDO:0006890	biolink:Disease	parathyroid gland adenoma	A benign tumor arising from the parenchymal cells of the parathyroid glands. In the vast majority of cases, the tumor involves a single parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. It is usually surrounded by a well-defined capsule. Capsular invasion, vascular invasion, and perineural invasion are absent.	UMLS:C0262587|EFO:1001087|HP:0002897|SCTID:128474007|NCIT:C3916|DOID:7608|MedDRA:10033940	mondo.json	adenoma of parathyroid|adenoma of parathyroid gland|adenoma of the parathyroid|parathyroid gland adenoma|parathyroid adenoma|adenoma of the parathyroid gland	http://purl.obolibrary.org/obo/MONDO_0006890	UMLS:C0262587|http://identifiers.org/snomedct/128474007|DOID:7608|NCIT:C3916	
MONDO:0016229	biolink:Disease	genetic vascular anomaly	An instance of vascular anomaly that is caused by a modification of the individual's genome.	Orphanet:211240	mondo.json	genetic vascular anomaly	http://purl.obolibrary.org/obo/MONDO_0016229	Orphanet:211240	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0043836	biolink:Disease	tuberculosis, spinal	Tuberculosis of the vertebrae.	MESH:D014399|NCIT:C35087|SCTID:35984006	mondo.json	tuberculosis of spine (pott's)|disease, pott's|pott's paraplegia|tuberculosis of vertebral column - pott's|tuberculous spondylitis|tuberculosis of vertebral column|pott disease|spinal Tuberculoses|Potts disease|Tuberculoses, spinal|pott's disease|disease, pott|spinal tuberculosis	http://purl.obolibrary.org/obo/MONDO_0043836	http://identifiers.org/snomedct/35984006|NCIT:C35087|http://identifiers.org/mesh/D014399	
MONDO:0043839	biolink:Disease	ulcer disease	A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue.	NCIT:C3426|UMLS:C0041582|SCTID:429040005|MESH:D014456	mondo.json	ulcer|ulceration|ulcerative|ulcerated|ulcers	http://purl.obolibrary.org/obo/MONDO_0043839	UMLS:C0041582|http://identifiers.org/snomedct/429040005|NCIT:C3426|http://identifiers.org/mesh/D014456	
MONDO:0016225	biolink:Disease	specific learning disability	Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V)	UMLS:CN226885|Orphanet:211047|MESH:D000067559	mondo.json	specific learning disorder|specific learning difficulty	http://purl.obolibrary.org/obo/MONDO_0016225	UMLS:CN226885|Orphanet:211047|http://identifiers.org/mesh/D000067559	ordo_group_of_disorders|disease_grouping
MONDO:0018888	biolink:Disease	congenital cornea plana		Orphanet:53691	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018888	Orphanet:53691	ordo_morphological_anomaly
MONDO:0018887	biolink:Disease	obsolete rare cutaneous lupus erythematosus	OBSOLETE. Cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE).	MESH:D008178|Orphanet:535|UMLS:C0024137|MedDRA:10056509	mondo.json	rare cutaneous lupus erythematosus	http://purl.obolibrary.org/obo/MONDO_0018887	Orphanet:535	ordo_group_of_disorders|disease_grouping|obsoletion_candidate
MONDO:0016226	biolink:Disease	specific language disorder		UMLS:CN200992|Orphanet:211053	mondo.json	dysphasia|specific language disorder	http://purl.obolibrary.org/obo/MONDO_0016226	Orphanet:211053|UMLS:CN200992	disease_grouping|ordo_group_of_disorders
MONDO:0016227	biolink:Disease	hereditary episodic ataxia	Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2.	OMIMPS:160120|GARD:0009851|UMLS:C1720189|DOID:963|EFO:1000638|Orphanet:211062|SCTID:421455009	mondo.json	ea syndrome|episodic ataxia syndrome|Isaacs syndrome|episodic ataxia	http://purl.obolibrary.org/obo/MONDO_0016227	http://identifiers.org/snomedct/421455009|Orphanet:211062|DOID:963|UMLS:C1720189|https://omim.org/phenotypicSeries/PS160120	disease_grouping|ordo_group_of_disorders
HP:0005523	biolink:PhenotypicFeature	Lymphoproliferative disorder		UMLS:C0024314|SNOMEDCT_US:414629003|MSH:D008232|SNOMEDCT_US:84631004|SNOMEDCT_US:277466009|SNOMEDCT_US:77121009	mondo.json	Lymphoproliferative disorders	http://purl.obolibrary.org/obo/HP_0005523		
UBERON:3000961	biolink:AnatomicalEntity	external integument structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_3000961		
MONDO:0016228	biolink:Disease	obsolete rare vascular tumor	OBSOLETE. Any of the forms of vascular neoplasm that have a rare incidence.	Orphanet:211237	mondo.json	rare vascular neoplasm	http://purl.obolibrary.org/obo/MONDO_0016228	Orphanet:211237	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0018889	biolink:Disease	hyaline body myopathy		Orphanet:53698|GARD:0007148|DOID:0111267	mondo.json	myosin storage myopathy	http://purl.obolibrary.org/obo/MONDO_0018889	DOID:0111267|Orphanet:53698	ordo_disease
MONDO:0018884	biolink:Disease	Roch-Leri mesosomatous lipomatosis	Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984.	SCTID:716772007|GARD:0004733|UMLS:C4274284|Orphanet:529	mondo.json	Roch-Leri syndrome	http://purl.obolibrary.org/obo/MONDO_0018884	http://identifiers.org/snomedct/716772007|Orphanet:529|UMLS:C4274284	gard_rare|ordo_disease
MONDO:0016221	biolink:Disease	temporomandibular joint anomaly		Orphanet:210581	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016221	Orphanet:210581	disease_grouping|ordo_group_of_disorders
MONDO:0018883	biolink:Disease	Berardinelli-Seip congenital lipodystrophy	A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance.	Orphanet:528|SCTID:127012008|ICD9:250.80|NCIT:C84594|MedDRA:10024603	mondo.json	GCL|Beradinelli-Seip syndrome|congenital generalized lipodystrophy|Seip-Bernardinelli syndrome|total lipodystrophy|Berardinelli Seip syndrome|BSCL|lipoatrophic diabetes|Berardinelli lipodystrophy syndrome|generalized congenital lipodystrophy|Lawrence-Seip syndrome|Brunzell syndrome	http://purl.obolibrary.org/obo/MONDO_0018883	Orphanet:528|NCIT:C84594	ordo_disease
MONDO:0016222	biolink:Disease	spindle cell hemangioma	Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in KaposiBs sarcoma and located in the dermis and subcutis.	UMLS:C1304508|NCIT:C4754|Orphanet:210584|ICDO:9136/1|SCTID:403967000|ICDO:9136/0|DOID:496|EFO:0002856	mondo.json	spindle -cell hemangioma|SCh|spindle cell hemangioendothelioma|spindle cell hemangioma	http://purl.obolibrary.org/obo/MONDO_0016222	DOID:496|Orphanet:210584|NCIT:C4754|http://identifiers.org/snomedct/403967000|UMLS:C1304508	ordo_disease
MONDO:0018886	biolink:Disease	obsolete listeriosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018886		
MONDO:0016223	biolink:Disease	infantile hemangioma of rare localization		Orphanet:210589|SCTID:703270004|UMLS:C3839613|UMLS:CN226884	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016223	http://identifiers.org/snomedct/703270004|UMLS:CN226884|UMLS:C3839613|Orphanet:210589	disease_grouping|ordo_group_of_disorders
MONDO:0016224	biolink:Disease	autosomal dominant proximal spinal muscular atrophy	Autosomal dominant form of proximal spinal muscular atrophy.	Orphanet:211037|UMLS:CN229044	mondo.json	proximal spinal muscular atrophy, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0016224	Orphanet:211037|UMLS:CN229044	disease_grouping|ordo_group_of_disorders
MONDO:0018885	biolink:Disease	orbital leiomyoma	Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported.	UMLS:CN205236|Orphanet:52994|UMLS:C4305000|SCTID:719045009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018885	http://identifiers.org/snomedct/719045009|UMLS:CN205236|Orphanet:52994|UMLS:C4305000	ordo_disease
MONDO:0018880	biolink:Disease	obsolete rare teratologic disease		Orphanet:52662|UMLS:CN205231	mondo.json	acquired embryofetopathy	http://purl.obolibrary.org/obo/MONDO_0018880	UMLS:CN205231|Orphanet:52662	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0018882	biolink:Disease	vasculitis	Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. BehC'et disease) to relatively minor skin disease.	MedDRA:10047115|SCTID:31996006|MESH:D014657|MedDRA:10036023|NCIT:C26912|GARD:0009565|DOID:865|Orphanet:52759|UMLS:C0042384|Orphanet:280369|Wikipedia:Vasculitis|EFO:0006803	mondo.json	angiitis|systemic vasculitis	http://purl.obolibrary.org/obo/MONDO_0018882	UMLS:C0042384|DOID:865|http://identifiers.org/snomedct/31996006|NCIT:C26912|Orphanet:52759|http://identifiers.org/mesh/D014657	ordo_group_of_disorders|disease_grouping
HGNC:14153	biolink:NamedThing	CCDC78			mondo.json		http://identifiers.org/hgnc/14153		
MONDO:0018881	biolink:Disease	myelodysplastic syndrome	A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)	ICDO:9989/3|Orphanet:52688|DOID:0050908|UMLS:C3463824|EFO:0000198|OMIM:614286|MedDRA:10028532|SCTID:109995007|NCIT:C3247|UMLS:C0033027|ONCOTREE:MDS|ICD9:238.7|GARD:0007132|ICD9:238.75	mondo.json	MDS, unclassifiable|myelodysplastic syndrome, unclassifiable|myelodysplastic neoplasm|myelodysplasia|MDS|myelodysplastic syndrome|smoldering leukemia|MDS-U|myelodysplastic syndrome, somatic|myelodysplastic syndrome/neoplasm|preleukemia|oligoblastic leukemia|myelodysplastic syndrome, susceptibility to|myelodysplastic syndromes|hematopoeitic - myelodysplastic syndrome (MDS)|dysmyelopoietic syndrome	http://purl.obolibrary.org/obo/MONDO_0018881	DOID:0050908|https://omim.org/entry/614286|UMLS:C3463824|UMLS:C0033027|http://identifiers.org/snomedct/109995007|Orphanet:52688|NCIT:C3247	ordo_group_of_disorders|disease_grouping
MONDO:0016220	biolink:Disease	congenital temporomandibular joint ankylosis	Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.	Orphanet:210576|SCTID:763215008	mondo.json	congenital trismus	http://purl.obolibrary.org/obo/MONDO_0016220	http://identifiers.org/snomedct/763215008|Orphanet:210576	ordo_disease
HGNC:14154	biolink:NamedThing	LMF1			mondo.json		http://identifiers.org/hgnc/14154		
MONDO:0004247	biolink:Disease	peptic ulcer disease	A mucosal erosion that occurs in the esophagus, stomach or duodenum. Symptoms can include abdominal pain, nausea and vomiting, and bleeding.	UMLS:C0030920|ICD9:533|NCIT:C3318|DOID:750|MESH:D010437|SCTID:13200003	mondo.json	acute peptic ulcer without hemorrhage and without perforation|peptic ulcer|acute peptic ulcer with hemorrhage and perforation|acute peptic ulcer with hemorrhage	http://purl.obolibrary.org/obo/MONDO_0004247	DOID:750|UMLS:C0030920|http://identifiers.org/mesh/D010437|http://identifiers.org/snomedct/13200003|NCIT:C3318	
MONDO:0004246	biolink:Disease	obsolete lymphatic system disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004246		
MONDO:0004249	biolink:Disease	pediatric supratentorial ependymoma	An ependymoma that arises from the supratentorial region of the brain and occurs during childhood.	UMLS:C0278650|DOID:7502|NCIT:C9043|EFO:0008495	mondo.json	supratentorial ependymoma|pediatric supratentorial ependymoblastoma|childhood supratentorial ependymoma|pediatric cerebral ependymoma	http://purl.obolibrary.org/obo/MONDO_0004249	DOID:7502|NCIT:C9043|UMLS:C0278650	
MONDO:0004248	biolink:Disease	pediatric infratentorial ependymoma	An ependymoma that arises from the infratentorial region of the brain and occurs during childhood.	DOID:7501|UMLS:C0278599|NCIT:C9041	mondo.json	childhood infratentorial ependymoma|infratentorial ependymoma|pediatric infratentorial ependymoma	http://purl.obolibrary.org/obo/MONDO_0004248	NCIT:C9041|UMLS:C0278599|DOID:7501	
MONDO:0004243	biolink:Disease	vulvar proximal-type epithelioid sarcoma	An epithelioid sarcoma of the proximal type involving the vulva.	UMLS:C1520093|NCIT:C40319|DOID:7491	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004243	UMLS:C1520093|NCIT:C40319|DOID:7491	
HGNC:26144	biolink:NamedThing	PALB2			mondo.json		http://identifiers.org/hgnc/26144		
UBERON:3000981	biolink:AnatomicalEntity	limb external integument structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_3000981		
MONDO:0004242	biolink:Disease	active peptic ulcer disease		DOID:749|ICD9:578.9|SCTID:74474003	mondo.json	GI bleeding	http://purl.obolibrary.org/obo/MONDO_0004242	DOID:749|http://identifiers.org/snomedct/74474003	
MONDO:0004245	biolink:Disease	ependymal tumor of brain	A tumor arising from the ependymal lining of the ventricles.	NCIT:C3861|UMLS:C0238029|DOID:7497|SCTID:254939008	mondo.json	ependymoma of brain|ependymal tumor of brain|brain ependymal tumor|brain ependymoma	http://purl.obolibrary.org/obo/MONDO_0004245	UMLS:C0238029|DOID:7497|http://identifiers.org/snomedct/254939008|NCIT:C3861	
MONDO:0004244	biolink:Disease	proximal-type epithelioid sarcoma	An epithelioid sarcoma predominantly involving the pelvis, perineum, and genital organs. It tends to have a more aggressive clinical course as compared to the more frequently seen distal-type epithelioid sarcoma.	ONCOTREE:PTES|UMLS:C1335563|NCIT:C27472|DOID:7492	mondo.json	proximal-type epithelioid sarcoma|PTES|central epithelioid sarcoma	http://purl.obolibrary.org/obo/MONDO_0004244	NCIT:C27472|UMLS:C1335563|DOID:7492	
HGNC:26147	biolink:NamedThing	AGBL5			mondo.json		http://identifiers.org/hgnc/26147		
MONDO:0004241	biolink:Disease	Osgood-Schlatter disease	Osteochondrosis of the growth plate near the tibial tuberosity.	Orphanet:97335|MedDRA:10031130|SCTID:79353000|DOID:7489|SCTID:430506003|SCTID:72047008|NCIT:C34874|ICD9:736.89	mondo.json	osteochondritis of tibial tubercle|osteochondritis of the tibial tubercle|aseptic necrosis of the tibial tubercle|Osgood-Schlatter disease|Osgood-Schlatter's disease|juvenile osteochondrosis of tibial tubercle|Osteochondrosis of the tibial tubercle|Osteochondrosis of proximal tibia	http://purl.obolibrary.org/obo/MONDO_0004241	http://identifiers.org/snomedct/430506003|NCIT:C34874|Orphanet:97335|http://identifiers.org/snomedct/72047008|DOID:7489	ordo_disease
MONDO:0004240	biolink:Disease	posterior urethra cancer	A malignant neoplasm that affects the portion of the urethra that is close to the bladder.	NCIT:C7640|DOID:7488|UMLS:C0279931	mondo.json	malignant tumor of posterior urethra|posterior urethral cancer|posterior urethra malignant neoplasm|malignant neoplasm of the posterior urethra|posterior urethral malignant tumor|malignant neoplasm of posterior urethra|posterior urethra malignant tumor|posterior urethral malignant neoplasm|malignant tumor of the posterior urethra	http://purl.obolibrary.org/obo/MONDO_0004240	UMLS:C0279931|NCIT:C7640|DOID:7488	
MONDO:0016218	biolink:Disease	Guillain-Barre syndrome	A spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants.	SCTID:40956001|ICD10CM:G61.0|DOID:12842|EFO:0007292|NCIT:C116345|UMLS:C0018378|MedDRA:10018767|Orphanet:2103|MESH:D020275|GARD:0006554	mondo.json	acute autoimmune peripheral neuropathy|Guillain-Barré-Strohl syndrome|Guillain Barré syndrome|GBS|post-infective polyneuritis|post-infectious polyneuritis|Guillain-Barré syndrome|acute immune-mediated polyneuropathy|acute inflammatory demyelinating polyneuropathy|postinfectious polyneuritis|Guillain-Barre-Strohl syndrome|Landry's ascending paralysis|acute postinfectious polyneuropathy|Landry-Guillain-Barre-Strohl syndrome|acute inflammatory neuropathy|Guillain Barre syndrome	http://purl.obolibrary.org/obo/MONDO_0016218	http://identifiers.org/mesh/D020275|http://purl.bioontology.org/ontology/ICD10CM/G61.0|Orphanet:2103|NCIT:C116345|UMLS:C0018378|DOID:12842|http://identifiers.org/snomedct/40956001	disease_grouping|ordo_group_of_disorders
UBERON:3000977	biolink:AnatomicalEntity	body external integument structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_3000977		
MONDO:0016219	biolink:Disease	dysmorphism-pectus carinatum-joint laxity syndrome	Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown.	Orphanet:2104|GARD:0000352|UMLS:CN237430	mondo.json	Guízar Vázquez-Sánchez-Manzano syndrome|dysmorphism-pectus carinatum-joint laxity syndrome|Guizar Vasquez Sanchez Manzano syndrome	http://purl.obolibrary.org/obo/MONDO_0016219	Orphanet:2104|UMLS:CN237430	gard_rare|ordo_malformation_syndrome
MONDO:0016214	biolink:Disease	pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome	Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named Btrimorphic syndromeB (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality.	UMLS:CN200975|Orphanet:210136	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016214	UMLS:CN200975|Orphanet:210136	ordo_disease
MONDO:0018877	biolink:Disease	retinitis punctata albescens		Orphanet:52427|UMLS:CN205224|SCTID:715562001|ICD10CM:H35.5	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018877	http://identifiers.org/snomedct/715562001|UMLS:CN205224|Orphanet:52427	ordo_disease
MONDO:0018876	biolink:Disease	mantle cell lymphoma	Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''.	EFO:1001469|SCTID:443487006|DOID:0050746|Orphanet:52416|MedDRA:10061275|GARD:0006969|MESH:D020522|ONCOTREE:MCL|NCIT:C4337|ICDO:9673/3|ICD9:200.40	mondo.json	lymphoma, mantle cell|classical mantle cell lymphoma|mantle cell lymphoma|mantle zone lymphoma|MCL|LCM	http://purl.obolibrary.org/obo/MONDO_0018876	DOID:0050746|http://identifiers.org/snomedct/443487006|Orphanet:52416|NCIT:C4337|http://identifiers.org/mesh/D020522	ordo_disease
MONDO:0016215	biolink:Disease	spastic quadriplegic cerebral palsy	A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities.	UMLS:C0154697|GARD:0010447|ICD9:344.09|SCTID:192965001|OMIMPS:603513|OMIMPS:612900|ICD10CM:G11.4|ICD9:343.2|NCIT:C116904|DOID:10970|Orphanet:210141	mondo.json	quadriplegic infantile cerebral palsy|spastic tetraplegia cerebral palsy|tetraplegic infantile cerebral palsy|inherited congenital spastic tetraplegia|inherited congenital spastic quadriplegia|spastic quadriplegic cerebral palsy|spastic quadriplegia	http://purl.obolibrary.org/obo/MONDO_0016215	DOID:10970|https://omim.org/phenotypicSeries/PS612900|NCIT:C116904|Orphanet:210141|UMLS:C0154697|http://identifiers.org/snomedct/192965001	ordo_disease
MONDO:0016216	biolink:Disease	adult hepatocellular carcinoma	Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure.	DOID:0070328|NCIT:C7956|Orphanet:210159|UMLS:C0279607|UMLS:CN200978	mondo.json	adult primary hepatoma|adult primary carcinoma of liver cell|adult primary carcinoma of the liver cell|adult primary liver cell carcinoma|hepatocellular carcinoma of adults|adult hepatocellular carcinoma|adult HCC|adult primary hepatocellular carcinoma|adult hepatoma|hepatocellular cancer	http://purl.obolibrary.org/obo/MONDO_0016216	DOID:0070328|UMLS:C0279607|UMLS:CN200978|Orphanet:210159|NCIT:C7956	ordo_clinical_subtype
MONDO:0018879	biolink:Disease	lichen planopilaris	Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus.	SCTID:64540004|ICD10CM:L66.1|Orphanet:525|GARD:0003247|MESH:C535892|UMLS:C0023645	mondo.json	lichen planus follicularis|follicular lichen planus|Kossard disease|lichen planopilaris classic type|frontal fibrosing alopecia (subtype)|LPP|lichen follicularis	http://purl.obolibrary.org/obo/MONDO_0018879	Orphanet:525|http://identifiers.org/snomedct/64540004|http://purl.bioontology.org/ontology/ICD10CM/L66.1|http://identifiers.org/mesh/C535892|UMLS:C0023645	ordo_disease
UBERON:3000972	biolink:AnatomicalEntity	head external integument structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_3000972		
MONDO:0016217	biolink:Disease	mal de Debarquement	Mal de debarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train.	GARD:0006959|MESH:C537840|SCTID:446079007|MedDRA:10064924|Orphanet:210272|UMLS:C1608983	mondo.json	Mal de débarquement|MDD|Mal de debarquement syndrome|sickness of disembarkment|MdDS|disembarkment syndrome	http://purl.obolibrary.org/obo/MONDO_0016217	UMLS:C1608983|http://identifiers.org/mesh/C537840|Orphanet:210272|http://identifiers.org/snomedct/446079007	ordo_clinical_syndrome
MONDO:0018878	biolink:Disease	branchiootic syndrome	Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).	GARD:0010148|UMLS:CN205225|DOID:0060232|SCTID:764810000|MESH:C537104|Orphanet:52429	mondo.json	bor|bo syndrome|branchiootic dysplasia	http://purl.obolibrary.org/obo/MONDO_0018878	http://identifiers.org/mesh/C537104|http://identifiers.org/snomedct/764810000|DOID:0060232|UMLS:CN205225|Orphanet:52429	ordo_malformation_syndrome
MONDO:0018873	biolink:Disease	anterior cutaneous nerve entrapment syndrome	Anterior cutaneous nerve entrapment syndrome (ACNES) is a chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome.	UMLS:CN776944|Orphanet:51890	mondo.json	ACNES|rectus abdominis syndrome|intercostal nerve syndrome	http://purl.obolibrary.org/obo/MONDO_0018873	UMLS:CN776944|Orphanet:51890	ordo_disease
MONDO:0016210	biolink:Disease	alternating hemiplegia		Orphanet:209978|SCTID:404689008	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016210	http://identifiers.org/snomedct/404689008|Orphanet:209978	disease_grouping|ordo_group_of_disorders
MONDO:0018872	biolink:Disease	acute megakaryoblastic leukemia	Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.	GARD:0000524|Orphanet:518|EFO:0003025|MedDRA:C0023462|Wikipedia:Acute_megakaryoblastic_leukemia|ICDO:9910/3|UMLS:C0023462|SCTID:277602003|ONCOTREE:AMKL|DOID:8761|ICD9:207.2|NCIT:C3170|MESH:D007947	mondo.json	AML M7|leukemia, megakaryocytic, malignant|acute myeloid leukemia M7|AMKL|megakaryocytic myelosis|acute megakaryocytic leukemia|acute megakaryoblastic leukemia, FAB M7|acute megakaryoblastic leukemia|acute megakaryoblastic leukaemia, FAB M7|acute megakaryocytic leukemias|acute myeloblastic leukemia type 7|acute megakaryoblastic leukaemia|megakaryocytic leukemia|FAB M7|thrombocytic leukaemia|acute megakaryoblastic leukemia (FAB type M7)|acute M7 myeloid leukemia	http://purl.obolibrary.org/obo/MONDO_0018872	Orphanet:518|http://identifiers.org/mesh/D007947|UMLS:C0023462|http://identifiers.org/snomedct/277602003|NCIT:C3170|DOID:8761	ordo_disease|gard_rare
MONDO:0016211	biolink:Disease	non-papillary transitional cell carcinoma of the bladder		Orphanet:209989|UMLS:CN200968	mondo.json	non-papillary urothelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0016211	UMLS:CN200968|Orphanet:209989	ordo_disease
MONDO:0018875	biolink:Disease	Li-Fraumeni syndrome	Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC).	MESH:D016864|GARD:0006902|MedDRA:10066795|Orphanet:524|ICD9:V84.01|NCIT:C3476|DOID:3012|OMIMPS:151623|SCTID:428850001|UMLS:C0085390	mondo.json	Li-Fraumeni familial cancer susceptibility syndrome|Li Fraumeni syndrome|SBLA syndrome|sarcoma, breast, leukaemia and adrenal gland syndrome|sarcoma family syndrome of Li and Fraumeni|SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)|Li-Fraumeni familiar cancer susceptibility syndrome|Li-Fraumeni syndrome	http://purl.obolibrary.org/obo/MONDO_0018875	UMLS:C0085390|Orphanet:524|https://omim.org/phenotypicSeries/PS151623|DOID:3012|http://identifiers.org/mesh/D016864|http://identifiers.org/snomedct/428850001|NCIT:C3476	ordo_disease
MONDO:0016212	biolink:Disease	obsolete cyclosporosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016212		
MONDO:0018874	biolink:Disease	acute myeloid leukemia	Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections.	ICDO:9861/3|Orphanet:519|GARD:0012757|DOID:9119|NCIT:C3171|EFO:0000222|KEGG:05221|ICD9:205.0|MedDRA:10000880|MESH:D015470|OMIM:601626|ONCOTREE:AML|SCTID:91861009|ICD9:205.00|GARD:0000537|UMLS:C0023467	mondo.json	leukemia, acute myeloid|leukemia, acute myeloid, reduced survival in, somatic|acute myelogenous leukemias|leukemia, acute myeloid, autosomal dominant, somatic mutation|acute Nonlymphocytic leukemia|acute nonlymphocytic leukemia|myeloid leukemia, acute|acute myelogenous leukemia|leukemia, acute myeloid, susceptibility to, autosomal dominant, somatic mutation|AML|acute granulocytic leukemia|leukemia, acute myelogenous|acute myeloblastic leukemia|hematopoeitic - acute Myleogenous leukemia (AML)|acute myeloid leukemia, somatic|leukemia, myelocytic, acute|acute myelocytic leukemia|ANLL|leukemia, acute myeloid, susceptibility to|acute myeloid leukemia (AML)|myeloid leukemia, acute, M4/M4Eo subtype, somatic|leukemia, acute myeloid, somatic|acute myeloid leukemia|AML - acute myeloid leukemia|acute non lymphoblastic leukemia	http://purl.obolibrary.org/obo/MONDO_0018874	Orphanet:519|UMLS:C0023467|http://identifiers.org/snomedct/91861009|DOID:9119|https://omim.org/entry/601626|NCIT:C3171|http://identifiers.org/mesh/D015470	disease_grouping|ordo_group_of_disorders|gard_rare
MONDO:0016213	biolink:Disease	leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome	Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy.	Orphanet:210133|UMLS:CN226881	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016213	UMLS:CN226881|Orphanet:210133	ordo_disease
MONDO:0018871	biolink:Disease	acute myelomonocytic leukemia M4	An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001)	UMLS:C0023479|EFO:0000223|Orphanet:517|MedDRA:10000890|SCTID:110005000|GARD:0000529|ICDO:9867/3|ONCOTREE:AMML|NCIT:C7463	mondo.json	AML-M4|acute myeloblastic leukemia type 4|AMMoL|acute myelomonocytic leukemia|AML M4|AMML|acute myelomonocytic leukemia (FAB type M4)|acute M4 myeloid leukemia	http://purl.obolibrary.org/obo/MONDO_0018871	Orphanet:517|NCIT:C7463|UMLS:C0023479|http://identifiers.org/snomedct/110005000	ordo_disease|gard_rare
MONDO:0018870	biolink:Disease	arterial calcification of infancy	Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries.	DOID:0050644|Orphanet:51608|GARD:0008380|OMIMPS:208000|MESH:C537440	mondo.json	generalized arterial calcification of infancy|idiopathic obliterative arteriopathy|IIAC|generalized arterial calcification in infancy|infantile arteriosclerosis|occlusive infantile arteriopathy|idiopathic infantile arterial calcification	http://purl.obolibrary.org/obo/MONDO_0018870	https://omim.org/phenotypicSeries/PS208000|http://identifiers.org/mesh/C537440|DOID:0050644|Orphanet:51608	ordo_disease
MONDO:0004218	biolink:Disease	childhood germ cell brain tumor	A germ cell tumor arising from brain during childhood.	DOID:7430|UMLS:C1377598|NCIT:C5795	mondo.json	Brain germ cell tumor|germ cell neoplasm of pediatric brain|germ cell tumor of the childhood brain|germ cell tumor of childhood brain|pediatric brain germ cell tumor|pediatric brain germ cell neoplasm|germ cell neoplasm of the childhood brain|germ cell neoplasm of childhood brain|childhood brain germ cell tumor|germ cell neoplasm of the pediatric brain|germ cell tumor of the pediatric brain|germ cell tumor of pediatric brain|childhood germ cell brain neoplasm|childhood brain germ cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0004218	NCIT:C5795|UMLS:C1377598|DOID:7430	
MONDO:0004217	biolink:Disease	childhood brain germinoma	A germinoma arising from the brain during childhood.	DOID:7429|UMLS:C1332948|NCIT:C6207	mondo.json	pediatric brain germinoma|pediatric brain germ cell cancer|germinoma of the childhood brain|germinoma of childhood brain|brain germinoma of childhood|germinoma of the pediatric brain|germinoma of pediatric brain	http://purl.obolibrary.org/obo/MONDO_0004217	DOID:7429|UMLS:C1332948|NCIT:C6207	
MONDO:0006879	biolink:Disease	optic papillitis	Swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause optic atrophy and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)	DOID:10175|ICD9:362.83|ICD9:377.31|SCTID:6141006|MedDRA:10030948|ICD9:377.00|ICD9:377.0|MESH:D010211|SCTID:73221001|SCTID:423341008|ICD9:377.01|EFO:1001074	mondo.json	disk, Choked|decreased intraocular pressure associated papilledema|Edemas, retinal|optic papilla edema|decreased intraocular pressure-associated papilledema|optic disc inflammation|edema, optic disk|edema, retinal|Edemas, optic disk|Choked disk|papilledema associated with increased intracranial pressure|optic disk edema|disks, Choked|edema of the optic disc|papillitis, optic|increased intracranial pressure associated papilledema|inflammation of optic disc|optic nerve papillitis|retinal edema|increased intracranial pressure-associated papilledema|Choked disks|edema, optic papilla|papilledema associated with decreased intraocular pressure|papillitis|optic discitis|papillitis, optic nerve|retinal Edemas|optic papillitis	http://purl.obolibrary.org/obo/MONDO_0006879	DOID:10175|http://identifiers.org/mesh/D010211|http://identifiers.org/snomedct/73221001	
MONDO:0004219	biolink:Disease	polyvesicular vitelline pattern testicular yolk sac tumor	A yolk sac tumor that arises from the testis and is characterized by the presence of collections of vesicles that are surrounded by connective tissue.	UMLS:C1515311|DOID:7435|NCIT:C39930	mondo.json	testicular yolk Sac tumor, polyvesicular vitelline pattern	http://purl.obolibrary.org/obo/MONDO_0004219	NCIT:C39930|DOID:7435|UMLS:C1515311	
MONDO:0006877	biolink:Disease	oophoritis	Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix.	SCTID:76047005|EFO:1001071|MESH:D009869|MedDRA:10030345|DOID:10974|UMLS:C0029051	mondo.json	ovary inflammation|inflammation of ovary	http://purl.obolibrary.org/obo/MONDO_0006877	DOID:10974|http://identifiers.org/snomedct/76047005|http://identifiers.org/mesh/D009869|UMLS:C0029051	
MONDO:0004214	biolink:Disease	ovarian endometrioid cystadenofibroma	A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells in a fibrotic stroma.	NCIT:C27288|UMLS:C1335158|DOID:7411	mondo.json	ovarian endometrioid cystadenofibroma	http://purl.obolibrary.org/obo/MONDO_0004214	DOID:7411|NCIT:C27288|UMLS:C1335158	
MONDO:0006878	biolink:Disease	Moraxellaceae infectious disease	Infections with bacteria of the family moraxellaceae.	MESH:D045828|EFO:1001072	mondo.json	Psychobacter infections|infections, Moraxella|Moraxella infections|infection, Moraxella|Moraxellaceae infection|Moraxellaceae disease or disorder|infection, Psychobacter|Moraxella infection|infections, Psychobacter|infections, Moraxellaceae|Psychobacter infection|infection, Moraxellaceae|Moraxellaceae caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0006878	http://identifiers.org/mesh/D045828	
MONDO:0004213	biolink:Disease	vulvar non-keratinizing squamous cell carcinoma	A squamous cell carcinoma that arises from the vulva and is characterized by the absence of keratin pearls.	DOID:7409|NCIT:C40285|UMLS:C1520092	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004213	UMLS:C1520092|DOID:7409|NCIT:C40285	
UBERON:0037089	biolink:AnatomicalEntity	wall of orbit			mondo.json		http://purl.obolibrary.org/obo/UBERON_0037089		
MONDO:0006875	biolink:Disease	ocular hypertension	Abnormally high intraocular pressure.	UMLS:C0028840|MESH:D009798|ICD9:365.04|EFO:1001069|MedDRA:10030043|SCTID:4210003|DOID:9282	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006875	UMLS:C0028840|http://identifiers.org/mesh/D009798|http://identifiers.org/snomedct/4210003|DOID:9282	
MONDO:0004216	biolink:Disease	pineal region germinoma	A germinoma that arises from the pineal gland.	NCIT:C8712|MEDGEN:208928|DOID:7428|GARD:0002005|Orphanet:91352|UMLS:C0854912	mondo.json	pineal germinoma|germinoma	http://purl.obolibrary.org/obo/MONDO_0004216	DOID:7428|Orphanet:91352|NCIT:C8712|UMLS:C0854912	
MONDO:0006876	biolink:Disease	ocular tuberculosis	Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid.	EFO:1001070|ICD9:017.32|MESH:D014392|SCTID:49107007|ICD9:017.30|DOID:0070344|UMLS:C0041322	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006876	DOID:0070344|http://identifiers.org/mesh/D014392|UMLS:C0041322|http://identifiers.org/snomedct/49107007	
MONDO:0004215	biolink:Disease	cutaneous anthrax	An anthrax disease that results in infection located in skin, has material basis in Bacillus anthracis, which is transmitted by contact with infected animals or animal products. The infection has symptom skin lesion that eventually forms an ulcer with a black center.	GARD:0008158|MESH:C531621|UMLS:C0003177|DOID:7426|ICD9:022.0|ICD10CM:A22.0|SCTID:84980006	mondo.json	skin anthrax|anthrax, skin type	http://purl.obolibrary.org/obo/MONDO_0004215	UMLS:C0003177|DOID:7426|http://identifiers.org/mesh/C531621|http://purl.bioontology.org/ontology/ICD10CM/A22.0|http://identifiers.org/snomedct/84980006	gard_rare
MONDO:0043862	biolink:Disease	voice disorders	A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis.	MESH:D014832|SCTID:71941009|NCIT:C3441	mondo.json	voice disorder|neurologic dysphonia|neurologic voice disorder	http://purl.obolibrary.org/obo/MONDO_0043862	http://identifiers.org/snomedct/71941009|NCIT:C3441|http://identifiers.org/mesh/D014832	
MONDO:0004210	biolink:Disease	colonic L-cell glucagon-like peptide producing tumor	A neuroendocrine tumor that arises from the colon and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.	NCIT:C27447|DOID:7401|UMLS:C3274139	mondo.json	L-cell glucagon-like peptide-producing neuroendocrine tumor of colon|colonic L-cell glucagon-like peptide-producing neuroendocrine tumor|colon L-cell glucagon-like peptide-producing neuroendocrine tumor|colon L-cell glucagon-like peptide-producing NET	http://purl.obolibrary.org/obo/MONDO_0004210	DOID:7401|NCIT:C27447|UMLS:C3274139	
MONDO:0006873	biolink:Disease	nutritional deficiency disease	A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)	DOID:5113|MedDRA:10046058|EFO:1001067|MESH:D003677|SCTID:363246002|ICD10CM:E40-E46|SCTID:70241007|ICD9:269.8|NCIT:C3669|ICD9:269.9	mondo.json	malnutrition|malnourished	http://purl.obolibrary.org/obo/MONDO_0006873	http://identifiers.org/mesh/D003677|NCIT:C3669|http://identifiers.org/snomedct/70241007|DOID:5113|http://identifiers.org/snomedct/363246002|http://purl.bioontology.org/ontology/ICD10CM/E40-E46	
MONDO:0006874	biolink:Disease	obstructive jaundice	A finding indicating increased bilirubin levels in the blood and urine, due to intrahepatic or extrahepatic obstruction of the biliary system.	UMLS:C0022354|DOID:13603|EFO:1001068|MESH:D041781|MedDRA:10029982|SCTID:44018007	mondo.json	obstructive hyperbilirubinemia|cholestatic jaundice syndrome|cholestatic jaundice	http://purl.obolibrary.org/obo/MONDO_0006874	http://identifiers.org/snomedct/44018007|http://identifiers.org/mesh/D041781|DOID:13603|UMLS:C0022354	
MONDO:0006871	biolink:Disease	non-gestational choriocarcinoma	A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis.	UMLS:C1135873|MESH:D031954|DOID:4320|EFO:1001064	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006871	UMLS:C1135873|http://identifiers.org/mesh/D031954|DOID:4320	
MONDO:0004212	biolink:Disease	vulvar keratoacanthoma-like carcinoma	A rapidly growing squamous cell carcinoma that arises from the vulva. It is self-limited and is characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor.	DOID:7408|NCIT:C40288|UMLS:C1520086	mondo.json	vulvar squamous cell carcinoma, keratoacanthoma type	http://purl.obolibrary.org/obo/MONDO_0004212	DOID:7408|NCIT:C40288|UMLS:C1520086	
MONDO:0006872	biolink:Disease	obsolete nut allergic reaction	OBSOLETE. Allergic reaction to tree nuts that is triggered by the immune system.	DOID:4379|SCTID:91934008|EFO:1001066|UMLS:C0577620|MESH:D021184	mondo.json	nut allergy|allergy of 022 tree nuts (tn) (ccpr)|nut allergic reaction|022 tree nuts (tn) (ccpr) allergic disease|allergy to nuts	http://purl.obolibrary.org/obo/MONDO_0006872	DOID:4379|UMLS:C0577620|http://identifiers.org/mesh/D021184|http://identifiers.org/snomedct/91934008	
MONDO:0004211	biolink:Disease	L-cell glucagon-like peptide-producing neuroendocrine tumor	A neuroendocrine tumor that arises from the gastrointestinal tract and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.	NCIT:C27448|ICDO:8152/1|DOID:7402|UMLS:C3274140	mondo.json	L-cell glucagon-like peptide producing tumor|L-cell glucagon-like peptide-producing NET|L-cell glucagon-like peptide-producing neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0004211	DOID:7402|NCIT:C27448|UMLS:C3274140	
HP:0005508	biolink:PhenotypicFeature	Monoclonal immunoglobulin M proteinemia	Presence of a monoclonal immunoglobulin M protein in the serum.	UMLS:C0024419|SNOMEDCT_US:190817009|MSH:D008258|SNOMEDCT_US:35562000|SNOMEDCT_US:190818004	mondo.json	Waldenstrom macroglobulinemia	http://purl.obolibrary.org/obo/HP_0005508		
MONDO:0006870	biolink:Disease	obsolete noma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006870		
HGNC:26114	biolink:NamedThing	EDC3			mondo.json		http://identifiers.org/hgnc/26114		
HGNC:26113	biolink:NamedThing	TCTN1			mondo.json		http://identifiers.org/hgnc/26113		
MONDO:0016207	biolink:Disease	phacoanaphylactic uveitis	Intraocular inflammation occurring after extracapsular cataract extraction; probably an immune reaction to the patient's liberated lenticular proteins.	SCTID:410494003|UMLS:C1444621|UMLS:C0339320|Orphanet:209959|UMLS:C0152137	mondo.json	Phacoantigenic endophthalmitis|endophthalmitis phacoanaphylactica|lens-induced iridocyclitis|lens-induced uveitis|lens-induced endophthalmitis|Phako-anaphylactic endophthalmitis|Phacoallergic endophthalmitis	http://purl.obolibrary.org/obo/MONDO_0016207	UMLS:C1444621|http://identifiers.org/snomedct/410494003|Orphanet:209959	ordo_disease
UBERON:0001095	biolink:AnatomicalEntity	caudal vertebra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001095		
MONDO:0016208	biolink:Disease	solitary rectal ulcer syndrome	Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum.	Orphanet:209964|UMLS:C4274343|ICD10CM:K62.6|UMLS:CN200964|SCTID:716685003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016208	http://identifiers.org/snomedct/716685003|UMLS:C4274343|UMLS:CN200964|Orphanet:209964	ordo_disease
UBERON:0001094	biolink:AnatomicalEntity	sacral vertebra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001094		
MONDO:0018869	biolink:Disease	cobblestone lissencephaly	Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent.	MESH:D054222|Orphanet:51577|SCTID:253149002	mondo.json	lissencephaly type 2	http://purl.obolibrary.org/obo/MONDO_0018869	Orphanet:51577|http://identifiers.org/snomedct/253149002|http://identifiers.org/mesh/D054222	disease_grouping|ordo_group_of_disorders
MONDO:0016209	biolink:Disease	benign familial nocturnal alternating hemiplegia of childhood	Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities.	UMLS:CN226880|Orphanet:209973	mondo.json	benign nocturnal alternating hemiplegia of childhood|benign familial nocturnal alternating hemiplegia in childhood	http://purl.obolibrary.org/obo/MONDO_0016209	UMLS:CN226880|Orphanet:209973	ordo_disease
HP:0005506	biolink:PhenotypicFeature	Chronic myelogenous leukemia	A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate.	MSH:D015464|SNOMEDCT_US:92818009|DOID:8552|UMLS:C0023473|SNOMEDCT_US:63364005	mondo.json	Chronic myelogenous leukaemia|Chronic myeloid leukemia|Chronic myeloid leukaemia|Chronic myelocytic leukaemia|Chronic myelocytic leukemia	http://purl.obolibrary.org/obo/HP_0005506		
UBERON:0001096	biolink:AnatomicalEntity	wall of esophagus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001096		
MONDO:0016203	biolink:Disease	hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency		Orphanet:209902	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016203	Orphanet:209902	ordo_disease
MONDO:0018866	biolink:Disease	Aicardi-Goutieres syndrome	Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.	Orphanet:51|MESH:C535607|SCTID:230312006|ICD9:333.0|GARD:0000575|OMIMPS:225750|DOID:0050629	mondo.json	AGS|encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid|Aicardi-Goutières syndrome|Aicardi Goutieres syndrome|encephalopathy with basal ganglia calcification|encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis|pseudotoxoplasmosis syndrome|Cree encephalitis	http://purl.obolibrary.org/obo/MONDO_0018866	http://identifiers.org/snomedct/230312006|https://omim.org/phenotypicSeries/PS225750|DOID:0050629|http://identifiers.org/mesh/C535607|Orphanet:51	clingen|gard_rare|ordo_disease
UBERON:0001091	biolink:AnatomicalEntity	calcareous tooth			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001091		
MONDO:0016204	biolink:Disease	idiopathic copper-associated cirrhosis	Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining.	Orphanet:209919|SCTID:715864007|OMIM:215600	mondo.json	non-Wilsonian hepatic copper toxicosis of infancy and childhood	http://purl.obolibrary.org/obo/MONDO_0016204	http://identifiers.org/snomedct/715864007|Orphanet:209919	ordo_disease
MONDO:0018865	biolink:Disease	striate palmoplantar keratoderma	Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.	Orphanet:50942|UMLS:CN205191|SCTID:764958008	mondo.json	keratosis palmoplantaris striata|keratosis palmoplantaris striata et areata|keratosis palmoplantaris varians of Wachters	http://purl.obolibrary.org/obo/MONDO_0018865	http://identifiers.org/snomedct/764958008|Orphanet:50942|UMLS:CN205191	ordo_disease
UBERON:0001090	biolink:AnatomicalEntity	synovial fluid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001090		
MONDO:0018868	biolink:Disease	metachromatic leukodystrophy	A rare lysosomal storage disorder characterized byintralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.	Orphanet:512|DOID:10581|UMLS:C0023522|NCIT:C61251|MESH:D007966|MedDRA:10067609|SCTID:66521008	mondo.json	MLD|sulfatide lipoidosis|deficiency of cerebroside-sulfatase|arylsulfatase A deficiency|Scholz cerebral sclerosis	http://purl.obolibrary.org/obo/MONDO_0018868	http://identifiers.org/snomedct/66521008|DOID:10581|Orphanet:512|NCIT:C61251|http://identifiers.org/mesh/D007966|UMLS:C0023522	ordo_disease
MONDO:0016205	biolink:Disease	IRVAN syndrome		UMLS:C3665812|GARD:0012868|Orphanet:209943	mondo.json	idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome|idiopathic retinal-aneurysms-neuroretinitis syndrome	http://purl.obolibrary.org/obo/MONDO_0016205	UMLS:C3665812|Orphanet:209943	ordo_disease
MONDO:0016206	biolink:Disease	idiopathic uveal effusion syndrome		UMLS:CN200962|Orphanet:209956	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016206	UMLS:CN200962|Orphanet:209956	ordo_disease
MONDO:0018867	biolink:Disease	obsolete maple syrup urine disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018867		
UBERON:3000982	biolink:AnatomicalEntity	tail external integument structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_3000982		
MONDO:0018862	biolink:Disease	obsolete cat-scratch disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018862		
MONDO:0018861	biolink:Disease	Zellweger-like syndrome without peroxisomal anomalies	An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.	UMLS:C4305104|SCTID:718880003|UMLS:CN205183|Orphanet:50812	mondo.json	AHN-Lerman-Sagie syndrome	http://purl.obolibrary.org/obo/MONDO_0018861	Orphanet:50812|UMLS:C4305104|http://identifiers.org/snomedct/718880003|UMLS:CN205183	ordo_disease
MONDO:0016200	biolink:Disease	qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase		Orphanet:209203	mondo.json	qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase type -	http://purl.obolibrary.org/obo/MONDO_0016200	Orphanet:209203	disease_grouping|ordo_group_of_disorders
MONDO:0018864	biolink:Disease	Kikuchi-Fujimoto disease	Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat.	SCTID:127217009|NCIT:C71719|UMLS:C0398367|MESH:D020042|GARD:0006834|Orphanet:50918	mondo.json	Kikuchi necrotizing lymphadenitis|histiocytic necrotizing lymphadenitis|histiocytic necrotising lymphadenitis|Kikuchi's disease|nosocomial Kikuchi's disease|Kikuchi-Fujimoto's disease|Kikuchi disease	http://purl.obolibrary.org/obo/MONDO_0018864	NCIT:C71719|Orphanet:50918|UMLS:C0398367|http://identifiers.org/snomedct/127217009|http://identifiers.org/mesh/D020042	ordo_disease
HGNC:14135	biolink:NamedThing	PIGQ			mondo.json		http://identifiers.org/hgnc/14135		
MONDO:0016201	biolink:Disease	qualitative or quantitative defects of myotilin		Orphanet:209224	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016201	Orphanet:209224	disease_grouping|ordo_group_of_disorders
MONDO:0016202	biolink:Disease	autosomal dominant rhegmatogenous retinal detachment	Autosomal dominant form of rhegmatogenous retinal detachment.	UMLS:C1836081|Orphanet:209867	mondo.json	rhegmatogenous retinal detachment, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0016202	Orphanet:209867|UMLS:C1836081	ordo_disease
MONDO:0018863	biolink:Disease	obsolete leptospirosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018863		
HGNC:16791	biolink:NamedThing	TSEN15			mondo.json		http://identifiers.org/hgnc/16791		
MONDO:0018860	biolink:Disease	microlissencephaly-micromelia syndrome	Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.	UMLS:CN205181|Orphanet:50810	mondo.json	Basel-Vanagaite-Sirota syndrome	http://purl.obolibrary.org/obo/MONDO_0018860	Orphanet:50810|UMLS:CN205181	ordo_malformation_syndrome
MONDO:0004229	biolink:Disease	acantholytic variant squamous cell breast carcinoma	A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern.	UMLS:C1519485|NCIT:C40359|DOID:7459|EFO:1001969	mondo.json	squamous cell breast carcinoma, acantholytic variant	http://purl.obolibrary.org/obo/MONDO_0004229	DOID:7459|NCIT:C40359|UMLS:C1519485	
MONDO:0004228	biolink:Disease	obsolete hypogonadotropism			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004228		
UBERON:0037094	biolink:AnatomicalEntity	wall of common carotid artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0037094		
MONDO:0006888	biolink:Disease	paraneoplastic polyneuropathy	A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure.	DOID:8681|SCTID:77659000|UMLS:C0270932|MESH:D020364|ICD9:357.3|EFO:1001085|MedDRA:10062289|NCIT:C3981	mondo.json	paraneoplastic polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0006888	DOID:8681|NCIT:C3981|UMLS:C0270932|http://identifiers.org/snomedct/77659000|http://identifiers.org/mesh/D020364	
MONDO:0004225	biolink:Disease	monoclonal gammopathy of uncertain significance	A condition characterized by the presence of a monoclonal gammopathy (MG) in which the clonal mass has not reached a predefined state in which the condition is considered malignant. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases.	NCIT:C3996|SCTID:58648008|ONCOTREE:MGUS|GARD:0007034|MESH:D008998|UMLS:C0026470|SCTID:277577000|ICDO:9765/1|ICD9:238.6|EFO:1000836|DOID:7442	mondo.json	monoclonal gammopathy, benign|benign monoclonal gammopathy|MGUS|monoclonal gammopathy of unknown significance|monoclonal gammopathy of undetermined significance (morphologic abnormality)|monoclonal gammopathy of undetermined significance|monoclonal gammopathy of undetermined significance (MGUS)|monoclonal gammopathy Of undetermined significance (MGUS)	http://purl.obolibrary.org/obo/MONDO_0004225	DOID:7442|NCIT:C3996|UMLS:C0026470|http://identifiers.org/mesh/D008998|http://identifiers.org/snomedct/277577000|http://identifiers.org/snomedct/58648008	
MONDO:0006889	biolink:Disease	paraphimosis	A condition in which the foreskin of an uncircumcised male is retracted and cannot be pulled back over the glans penis. It results in painful swelling of the glans penis and, if is not corrected, may lead to gangrene.	SCTID:13758004|MESH:D010263|MedDRA:10033890|UMLS:C0030483|DOID:5334|EFO:1001086|ICD10CM:N47.2|NCIT:C34893	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006889	http://identifiers.org/snomedct/13758004|DOID:5334|UMLS:C0030483|http://purl.bioontology.org/ontology/ICD10CM/N47.2|NCIT:C34893|http://identifiers.org/mesh/D010263	
MONDO:0004224	biolink:Disease	chronic metabolic polyneuropathy		NCIT:C35602|UMLS:C1333042|DOID:7441	mondo.json	chronic metabolic polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0004224	DOID:7441|UMLS:C1333042|NCIT:C35602	
MONDO:0004227	biolink:Disease	epididymal adenomatoid tumor	A benign, usually asymptomatic small mesothelial tumor that arises from the epididymis.	SCTID:449052009|DOID:745|NCIT:C6382|UMLS:C1333415	mondo.json	benign epididymal epithelial mesothelioma|adenomatoid tumor of epididymis|adenomatoid tumor of the epididymis|adenomatoid neoplasm of epididymis|adenomatoid neoplasm of the epididymis|epididymis adenomatoid tumor|epididymal adenomatoid tumor	http://purl.obolibrary.org/obo/MONDO_0004227	UMLS:C1333415|http://identifiers.org/snomedct/449052009|DOID:745|NCIT:C6382	
MONDO:0006886	biolink:Disease	thyroid gland papillary and follicular carcinoma	A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)	DOID:3968|MESH:D018265|NCIT:C7380|EFO:1001083|UMLS:C0206683	mondo.json	papillary follicular thyroid adenocarcinoma|papillary and follicular adenocarcinoma|thyroid gland papillary and follicular carcinoma|papillary and follicular carcinoma	http://purl.obolibrary.org/obo/MONDO_0006886	UMLS:C0206683|NCIT:C7380|http://identifiers.org/mesh/D018265|DOID:3968	
MONDO:0004226	biolink:Disease	diffuse intraductal papillomatosis		DOID:7444|NCIT:C7364|UMLS:C1377912	mondo.json	diffuse intraductal papillomatosis	http://purl.obolibrary.org/obo/MONDO_0004226	UMLS:C1377912|NCIT:C7364	
MONDO:0006887	biolink:Disease	parametritis	Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the broad ligament.	MESH:D010249|SCTID:280483007|EFO:1001084|DOID:1260|UMLS:C0030455	mondo.json	inflammation of parametrium|parametrium inflammation|pelvic cellulitis	http://purl.obolibrary.org/obo/MONDO_0006887	UMLS:C0030455|http://identifiers.org/mesh/D010249|DOID:1260|http://identifiers.org/snomedct/280483007	
MONDO:0004221	biolink:Disease	uterine corpus perivascular epithelioid cell tumor	A neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus wall.	ONCOTREE:UPECOMA|DOID:7437|NCIT:C40180|UMLS:C1519862	mondo.json	uterine perivascular epithelioid cell tumor|uterine corpus PEComa|uterus perivascular epithelioid cell tumor|uterine corpus perivascular epithelioid cell tumor|body of uterus neoplasm with perivascular epithelioid cell differentiation	http://purl.obolibrary.org/obo/MONDO_0004221	DOID:7437|NCIT:C40180|UMLS:C1519862	
MONDO:0006884	biolink:Disease	panophthalmitis	Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture.	SCTID:33382000|MESH:D010202|MedDRA:10033683|EFO:1001081|ICD9:360.02|DOID:13732|UMLS:C0030332	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006884	UMLS:C0030332|DOID:13732|http://identifiers.org/mesh/D010202|http://identifiers.org/snomedct/33382000	
MONDO:0006885	biolink:Disease	obsolete MONDO:0006885			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006885		
MONDO:0004220	biolink:Disease	endometrial endometrioid adenocarcinoma with spindled epithelial cells	A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of spindled malignant epithelial cells.	DOID:7436|NCIT:C27850|UMLS:C1336913	mondo.json	endometrial endometrioid adenocarcinoma with spindled epithelial cells|sarcomatoid uterine corpus endometrioid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004220	NCIT:C27850|UMLS:C1336913|DOID:7436	
MONDO:0006882	biolink:Disease	orchitis	Inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation.	ICD10CM:N45.2|NCIT:C97145|SCTID:274718005|UMLS:C0029191|MedDRA:10031064|EFO:1001078|MESH:D009920|DOID:2518|HP:0100796	mondo.json	testis inflammation|testisitis|Orchititis|Inflammation of testis|orchitis|inflammation of testis|orchitis (disease)	http://purl.obolibrary.org/obo/MONDO_0006882	http://purl.bioontology.org/ontology/ICD10CM/N45.2|http://identifiers.org/snomedct/274718005|http://identifiers.org/mesh/D009920|DOID:2518|NCIT:C97145|UMLS:C0029191	
MONDO:0004223	biolink:Disease	polyp of middle ear	A benign polypoid growth in the middle ear.	ICD10CM:H74.4|DOID:7439|NCIT:C6933|UMLS:C0271466|SCTID:73103007	mondo.json	polyp - middle ear|middle Ear polyp|middle ear polyp|polyp of the middle ear	http://purl.obolibrary.org/obo/MONDO_0004223	DOID:7439|UMLS:C0271466|http://purl.bioontology.org/ontology/ICD10CM/H74.4|http://identifiers.org/snomedct/73103007|NCIT:C6933	
MONDO:0043875	biolink:Disease	tumor lysis syndrome	A condition of metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells. Tumor lysis syndrome typically occurs in aggressive, rapidly proliferating lymphoproliferative disorders. Burkitt lymphoma and T cell acute lymphoblastic leukemia are commonly associated with this syndrome. Metabolic abnormalities include hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia and may result in renal failure, multiple organ failure, and death.	UMLS:C0041364|NCIT:C3425|SCTID:277605001|EFO:1001479|MESH:D015275	mondo.json	tumor lysis syndrome|syndrome, tumor lysis|syndromes, tumor lysis|syndromes, tumour lysis|syndrome, tumour lysis|tumour lysis syndromes|tumor lysis syndromes|tumour lysis syndrome	http://purl.obolibrary.org/obo/MONDO_0043875	http://identifiers.org/mesh/D015275|NCIT:C3425|http://identifiers.org/snomedct/277605001|UMLS:C0041364	
MONDO:0006883	biolink:Disease	malignant superior sulcus neoplasm	A malignant neoplasm originating from the apical lung. Most malignant superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor.	UMLS:C0549471|SCTID:278065000|UMLS:C0030271|NCIT:C7527|DOID:8007|MESH:D010178|SCTID:254638002|EFO:1001080|NCIT:C55815	mondo.json	malignant Superior sulcus tumor of the lung|pulmonary sulcus neoplasm, malignant|malignant Superior sulcus neoplasm of lung|malignant Superior sulcus neoplasm of the lung|malignant pulmonary sulcus neoplasm|malignant Superior sulcus lung tumor|superior sulcus tumor|malignant Superior sulcus lung neoplasm|Pancoast tumor|superior pulmonary sulcus syndrome|Pancoast's tumor|Pancoast's tumour|superior pulmonary sulcus syndrome (disorder) [ambiguous]|malignant Superior sulcus neoplasm|Pancoast's syndrome|malignant Superior sulcus tumor|malignant Superior sulcus tumor of lung	http://purl.obolibrary.org/obo/MONDO_0006883	UMLS:C0549471|NCIT:C7527|DOID:8007|http://identifiers.org/snomedct/254638002	
MONDO:0004222	biolink:Disease	ovarian clear cell cystadenocarcinoma	A malignant glandular epithelial neoplasm arising from the ovary. It is characterized by the presence of clear and hobnail cells and cystic structures.	NCIT:C7980|UMLS:C0279667|DOID:7438	mondo.json	ovarian clear cell cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004222	DOID:7438|UMLS:C0279667|NCIT:C7980	
MONDO:0006880	biolink:Disease	oral leukoedema	A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)	DOID:4557|MedDRA:10057365|UMLS:C0023523|EFO:1001075|ICD9:528.79|MESH:D007967|SCTID:67795000	mondo.json	leukedema of mouth	http://purl.obolibrary.org/obo/MONDO_0006880	http://identifiers.org/snomedct/67795000|DOID:4557|http://identifiers.org/mesh/D007967|UMLS:C0023523	
MONDO:0006881	biolink:Disease	orbital cellulitis	Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary.	SCTID:194005002|EFO:1001076|DOID:11234|NCIT:C99000|ICD9:376.01|UMLS:C0149507|MESH:D054517|MedDRA:10031036	mondo.json	orbital cellulitis	http://purl.obolibrary.org/obo/MONDO_0006881	http://identifiers.org/mesh/D054517|NCIT:C99000|http://identifiers.org/snomedct/194005002|DOID:11234|UMLS:C0149507	
UBERON:0013067	biolink:AnatomicalEntity	colorectal mucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013067		
UBERON:0013069	biolink:AnatomicalEntity	popliteal area			mondo.json		http://purl.obolibrary.org/obo/UBERON_0013069		
UBERON:0001084	biolink:AnatomicalEntity	skin of head			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001084		
MONDO:0018859	biolink:Disease	obsolete Leigh disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018859		
MONDO:0018858	biolink:Disease	Graham Little-Piccardi-Lassueur syndrome	Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin.	UMLS:CN205176|GARD:0003195|ICD10CM:L66.1|Orphanet:505|UMLS:C0023645|SCTID:718215008	mondo.json	Graham-Little-Piccardi-Lassueur syndrome|Piccardi-Lassueur-Little syndrome|Graham Little syndrome	http://purl.obolibrary.org/obo/MONDO_0018858	http://identifiers.org/snomedct/718215008|Orphanet:505|UMLS:CN205176	gard_rare|ordo_disease
UBERON:0001083	biolink:AnatomicalEntity	myocardium of ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001083		
UBERON:0001085	biolink:AnatomicalEntity	skin of trunk			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001085		
MONDO:0018855	biolink:Disease	keratosis pilaris atrophicans	An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair.	SCTID:400059005|OMIM:604093|MESH:C537412|ICD9:757.39|Orphanet:498|GARD:0001042	mondo.json	honeycomb atrophy|keratosis pilaris atrophicans facies|Atrophodermia reticulata symmetrica faciei|keratosis pilaris|burnett Schwartz Berberian syndrome|keratosis pilaris atrophicans|folliculitis ulerythematosa|amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 2|ulerythema ophryogenesis|ulerythema ophryogenes with multiple congenital anomalies|ulerythema ophryogenes|folliculitis ulerythematosa reticulata|Atrophodermia reticulata|Atrophodermia vermiculata|KPA	http://purl.obolibrary.org/obo/MONDO_0018855	https://omim.org/entry/604093|http://identifiers.org/mesh/C537412|Orphanet:498|http://identifiers.org/snomedct/400059005	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0018854	biolink:Disease	acquired purpura fulminans	A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of PF that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic PF.	MESH:D014884|Orphanet:49566|UMLS:C4510896|UMLS:CN205163|MedDRA:10037556|SCTID:725157006|MESH:D055665|UMLS:C0043068	mondo.json	acquired PF|acquired purpura fulminans	http://purl.obolibrary.org/obo/MONDO_0018854	UMLS:C4510896|http://identifiers.org/snomedct/725157006|UMLS:CN205163|Orphanet:49566	ordo_disease
MONDO:0018857	biolink:Disease	creeping myiasis		UMLS:C1562462|MedDRA:10059547|Orphanet:504|SCTID:417441005|MESH:D007815|GARD:0001609	mondo.json	migratory myiasis	http://purl.obolibrary.org/obo/MONDO_0018857	UMLS:C1562462|Orphanet:504|http://identifiers.org/snomedct/417441005	gard_rare|ordo_disease
UBERON:0001082	biolink:AnatomicalEntity	epicardium of ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001082		
MONDO:0018856	biolink:Disease	lichen amyloidosis	Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis.	ICD10EXP:L99.0*|SCTID:718105008|Orphanet:49804|ICD10EXP:E85.4+	mondo.json	lichen amyloidosus|amyloid lichen	http://purl.obolibrary.org/obo/MONDO_0018856	http://identifiers.org/snomedct/718105008|Orphanet:49804	ordo_disease
UBERON:0001081	biolink:AnatomicalEntity	endocardium of ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001081		
MONDO:0018851	biolink:Disease	familial keratoacanthoma	Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant.	Orphanet:493|UMLS:CN227546|SCTID:716774008	mondo.json	multiple keratoacanthoma|hereditary keratoacanthoma	http://purl.obolibrary.org/obo/MONDO_0018851	http://identifiers.org/snomedct/716774008|UMLS:CN227546|Orphanet:493	ordo_disease
MONDO:0018850	biolink:Disease	proliferating trichilemmal cyst	Proliferating trichilemmal tumor is a rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues.	GARD:0004509|Orphanet:492|UMLS:C0345992|SCTID:254678009|NCIT:C27125|ICDO:8103/1|ICDO:8103/0|ONCOTREE:PPCT|UMLS:C2959585	mondo.json	proliferating Pilar tumor|proliferating trichilemmal tumor|proliferating pilar cystic tumor|Pilar tumor|Pilar cyst|proliferating pilar cyst|proliferating Tricholemmal tumor	http://purl.obolibrary.org/obo/MONDO_0018850	http://identifiers.org/snomedct/254678009|Orphanet:492|UMLS:C2959585|NCIT:C27125	ordo_disease|gard_rare
MONDO:0018853	biolink:Disease	transgrediens et progrediens palmoplantar keratoderma		Orphanet:495|OMIM:133200|UMLS:CN205162	mondo.json	transgrediens et progrediens PPK|Greither disease|progressive diffuse PPK|keratosis extremitatum hereditaria progrediens|keratosis palmoplantaris transgrediens et progrediens|progressive diffuse palmoplantar keratoderma	http://purl.obolibrary.org/obo/MONDO_0018853	Orphanet:495|UMLS:CN205162	ordo_disease
MONDO:0018852	biolink:Disease	achromatopsia	Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.	NCIT:C84528|Orphanet:49382|ICD9:368.54|OMIM:613093|MedDRA:10000454|UMLS:C0152200|DOID:13911|SCTID:102450007|ICD10CM:H53.51	mondo.json	monochromatism|Rod monochromacy|complete or incomplete color blindness|total color blindness|ACHM|Rod monochromatism|achromatopsia|Pingelapese blindness	http://purl.obolibrary.org/obo/MONDO_0018852	UMLS:C0152200|Orphanet:49382|http://identifiers.org/snomedct/102450007|DOID:13911|http://purl.bioontology.org/ontology/ICD10CM/H53.51|NCIT:C84528	clingen|ordo_disease
UBERON:0001088	biolink:AnatomicalEntity	urine			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001088		
UBERON:0001087	biolink:AnatomicalEntity	pleural fluid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001087		
UBERON:0001089	biolink:AnatomicalEntity	sweat			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001089		
MONDO:0016260	biolink:Disease	uterine corpus rhabdomyosarcoma	A rare malignant heterologous neoplasm with skeletal muscle differentiation arising from the uterine corpus. It usually manifests with vaginal bleeding. The prognosis is poor.	UMLS:C4288047|Orphanet:213615|NCIT:C127058	mondo.json	uterine corpus rhabdomyosarcoma|body of uterus rhabdomyosarcoma (disease)|rhabdomyosarcoma (disease) of body of uterus|rhabdomyosarcoma of the corpus uteri|body of uterus rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0016260	UMLS:C4288047|Orphanet:213615|NCIT:C127058	ordo_disease
MONDO:0004279	biolink:Disease	glossopharyngeal motor neuropathy	Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with syncope. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390)	DOID:7558|NCIT:C27212|UMLS:C0751942	mondo.json	glossopharyngeal nerve motor peripheral neuropathy|motor peripheral neuropathy of glossopharyngeal nerve	http://purl.obolibrary.org/obo/MONDO_0004279	NCIT:C27212|UMLS:C0751942|DOID:7558	
MONDO:0004276	biolink:Disease	ceruminoma	A benign epithelial neoplasm derived from ceruminous glands in the external auditory canal. It presents as a grey mass covered by skin. It is characterized by a proliferation of glands composed of cells with abundant eosinophilic and granular cytoplasm.	NCIT:C6088|UMLS:C0334352|UMLS:C1333488|SCTID:403945001|DOID:7549|ICDO:8420/0	mondo.json	ceruminous adenoma of the external auditory canal|external auditory canal ceruminous adenoma|ceruminous adenoma of external auditory canal|ceruminous adenoma (morphologic abnormality)|ceruminous adenoma|adenoma, ceruminous gland, benign	http://purl.obolibrary.org/obo/MONDO_0004276	http://identifiers.org/snomedct/403945001|NCIT:C6088|UMLS:C0334352|DOID:7549	
MONDO:0004275	biolink:Disease	osteosarcoma arising in bone Paget disease	A sarcomatous transformation of pre-existing Paget disease of the bone. Osteosarcomas arising from Paget disease of the bone are high grade lesions and usually have a poor prognosis.	DOID:7542|ICDO:9184/3|NCIT:C6469|UMLS:C1335148	mondo.json	osteosarcoma arising in bone Paget's disease|Paget osteosarcoma|osteosarcoma arising in Paget disease of bone|osteosarcoma arising in osseous Paget's disease|osteosarcoma arising in Paget's disease of bone|osteosarcoma arising in bone Paget disease|Paget's osteosarcoma|osteosarcoma arising in osteitis deformans	http://purl.obolibrary.org/obo/MONDO_0004275	NCIT:C6469|UMLS:C1335148|DOID:7542	
MONDO:0004278	biolink:Disease	infiltrating bladder urothelial carcinoma sarcomatoid variant	An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features.	UMLS:C1512743|ONCOTREE:SCB|DOID:7553|NCIT:C39824|EFO:1000303|UMLS:C1512745|UMLS:C1512744	mondo.json	sarcomatoid carcinoma of the urinary bladder|infiltrating bladder urothelial carcinoma sarcomatoid variant|infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements|infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements	http://purl.obolibrary.org/obo/MONDO_0004278	UMLS:C1512744|UMLS:C1512745|UMLS:C1512743|NCIT:C39824|DOID:7553	
MONDO:0004277	biolink:Disease	gonorrhea	A common sexually transmitted bacterial infection caused by Neisseria gonorrhoeae. It is transmitted through vaginal, oral, or anal intercourse. Infected individuals may be asymptomatic. Symptoms in males include burning sensation during urination, discharge from the penis, and painful swelling of the testes. Symptoms in females include painful urination, vaginal discharge, and vaginal bleeding between periods. If untreated, the infection may lead to pelvic inflammatory disease.	SCTID:15628003|ICD9:098.32|MESH:D006069|ICD9:098.2|GARD:0006499|NCIT:C92950|UMLS:C0018081|ICD9:098|DOID:7551|ICD9:098.89|Orphanet:100642	mondo.json	infections, Neisseria gonorrhoeae|acrodermatitis, papular infantile|chronic gonococcal infectious disease of upper genitourinary tract|GC|Neisseria gonorrhoeae infection|PAS|PAC|chronic gonococcal infectious disease of lower genitourinary tract|acrodermatitis, infantile lichenoid|Crosti-gianotti syndrome|papular acrodermatitis of childhood|Gianotti Crosti syndrome	http://purl.obolibrary.org/obo/MONDO_0004277	http://identifiers.org/mesh/D006069|NCIT:C92950|UMLS:C0018081|http://identifiers.org/snomedct/15628003|DOID:7551|Orphanet:100642	
MONDO:0004272	biolink:Disease	urinary bladder tuberculosis	A tuberculosis that involves the urinary bladder.	DOID:754|SCTID:32268008|ICD9:016.10|UMLS:C0152793|ICD9:016.14|ICD9:016.1	mondo.json	tuberculous cystitis|tuberculosis of bladder, unspecified examination|bladder tuberculous|urinary bladder tuberculosis|tuberculosis of bladder|bladder tuberculosis	http://purl.obolibrary.org/obo/MONDO_0004272	http://identifiers.org/snomedct/32268008|UMLS:C0152793|DOID:754	
MONDO:0004271	biolink:Disease	pregnancy adenoma	A tubular type adenoma of the breast in which, during pregnancy and lactation, the epithelial cells show extensive secretory changes.	ICDO:8204/0|DOID:7539|NCIT:C9473|UMLS:C1266023	mondo.json	Lactating adenoma|Lactating adenoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0004271	DOID:7539|UMLS:C1266023|NCIT:C9473	
MONDO:0004274	biolink:Disease	mixed epithelial/mesenchymal metaplastic breast carcinoma	An invasive breast carcinoma characterized by the presence of a mesenchymal cellular component. The mesenchymal cellular component ranges from cartilaginous and osseous, to purely sarcomatous.	ONCOTREE:MMBC|UMLS:C1513365|DOID:7541|NCIT:C40364	mondo.json	mixed type metaplastic breast cancer|breast carcinosarcoma	http://purl.obolibrary.org/obo/MONDO_0004274	NCIT:C40364|DOID:7541|UMLS:C1513365	
MONDO:0004273	biolink:Disease	breast apocrine adenoma	A rare, benign and well circumscribed neoplasm that arises from the breast. It is characterized by the proliferation of epithelial cells with extensive apocrine metaplasia.	DOID:7540|UMLS:C1388299|NCIT:C40383	mondo.json	breast apocrine adenoma|apocrine adenoma of breast	http://purl.obolibrary.org/obo/MONDO_0004273	UMLS:C1388299|DOID:7540|NCIT:C40383	
OBO:ECTO_9001975	biolink:NamedThing	exposure to antimicrobial food preservative	An exposure to antimicrobial food preservative.		mondo.json	exposure to antimicrobial food preservative	http://purl.obolibrary.org/obo/ECTO_9001975		
MONDO:0004270	biolink:Disease	breast ductal adenoma	A benign, well circumscribed neoplasm that is located within the lumen of a duct in the breast parenchyma. It is characterized by the presence of glandular structures at the periphery and fibrous tissue at the center of the tumor.	NCIT:C40384|DOID:7538|UMLS:C1511307	mondo.json	breast ductal adenoma|ductal adenoma	http://purl.obolibrary.org/obo/MONDO_0004270	NCIT:C40384|DOID:7538|UMLS:C1511307	
MONDO:0016269	biolink:Disease	high-grade neuroendocrine carcinoma of the corpus uteri	High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated.	Orphanet:213731|UMLS:CN201058	mondo.json	poorly differentiated neuroendocrine carcinoma of the endometrium|high-grade neuroendocrine carcinoma of the uterine corpus|poorly differentiated neuroendocrine carcinoma of the corpus uteri	http://purl.obolibrary.org/obo/MONDO_0016269	UMLS:CN201058|Orphanet:213731	ordo_disease
HP:0005561	biolink:PhenotypicFeature	Abnormality of bone marrow cell morphology	An anomaly of the form or number of cells in the bone marrow.	SNOMEDCT_US:127035006|UMLS:C4021634|MSH:D001855|UMLS:C0005956	mondo.json	Bone marrow disease|Anomaly of the bone marrow cells	http://purl.obolibrary.org/obo/HP_0005561		
MONDO:0016265	biolink:Disease	obsolete endometrial stromal sarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016265		
MONDO:0016266	biolink:Disease	squamous cell carcinoma of the corpus uteri	A squamous cell carcinoma that involves the body of uterus.	ICD10CM:C50|Orphanet:213716	mondo.json	endometrial squamous cell carcinoma|body of uterus squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0016266	Orphanet:213716	ordo_disease
MONDO:0016267	biolink:Disease	undifferentiated carcinoma of the corpus uteri	Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported.	ICD10CM:C50|Orphanet:213721	mondo.json	body of uterus undifferentiated carcinoma|endometrial undifferentiated carcinoma	http://purl.obolibrary.org/obo/MONDO_0016267	Orphanet:213721	ordo_disease
MONDO:0016268	biolink:Disease	papillary carcinoma of the corpus uteri	A papillary carcinoma that involves the body of uterus.	Orphanet:213726|UMLS:CN201057	mondo.json	body of uterus papillary carcinoma|endometrial capillary carcinoma	http://purl.obolibrary.org/obo/MONDO_0016268	UMLS:CN201057|Orphanet:213726	ordo_disease
MONDO:0016261	biolink:Disease	obsolete sarcoma of the corpus uteri			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016261		
MONDO:0016262	biolink:Disease	leiomyosarcoma of the corpus uteri	An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells.	UMLS:C0280631|ONCOTREE:ULMS|Orphanet:213625|NCIT:C6340|DOID:5289|SCTID:447389009	mondo.json	uterine leiomyosarcoma|corpus uteri leiomyosarcoma|leiomyosarcoma of uterine body|leiomyosarcoma of the uterine body|leiomyosarcoma of uterus|leiomyosarcoma of the uterus|body of uterus leiomyosarcoma|uterine body leiomyosarcoma|uterus leiomyosarcoma|leiomyosarcoma of corpus uteri|leiomyosarcoma of body of uterus|leiomyosarcoma of uterine corpus|leiomyosarcoma of the body of uterus|leiomyosarcoma - uterus|leiomyosarcoma of the corpus uteri|leiomyosarcoma of the uterine corpus|uterine corpus leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0016262	NCIT:C6340|DOID:5289|Orphanet:213625|http://identifiers.org/snomedct/447389009|UMLS:C0280631	ordo_disease
MONDO:0016263	biolink:Disease	primitive neuroectodermal tumor of the corpus uteri	A primitive neuroectodermal tumor that involves the body of uterus.	Orphanet:213630|UMLS:CN201052	mondo.json	body of uterus primitive neuroectodermal tumor|peripheral neuroectodermal cancer of the corpus uteri|malignant peripheral neuroectodermal tumor of the corpus uteri|primitive neuroectodermal tumor of body of uterus	http://purl.obolibrary.org/obo/MONDO_0016263	UMLS:CN201052|Orphanet:213630	ordo_disease
MONDO:0016264	biolink:Disease	autoimmune hepatitis	Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma.	UMLS:C1332355|GARD:0005871|NCIT:C27029|MedDRA:10003827|ICD10CM:K75.4|DOID:2048|SCTID:408335007|Orphanet:2137|ICD9:571.42|UMLS:C0241910|EFO:0005676|MESH:D019693	mondo.json	autoimmune liver disease|autoimmune chronic active hepatitis|autoimmune hepatitis|AIH|chronic autoimmune hepatitis|autoimmune chronic hepatitis|autoimmune hepatitis with centrilobular necrosis	http://purl.obolibrary.org/obo/MONDO_0016264	http://identifiers.org/mesh/D019693|Orphanet:2137|http://purl.bioontology.org/ontology/ICD10CM/K75.4|UMLS:C1332355|UMLS:C0241910|http://identifiers.org/snomedct/408335007|DOID:2048|NCIT:C27029	gard_rare|ordo_disease
HGNC:28769	biolink:NamedThing	DRAM2			mondo.json		http://identifiers.org/hgnc/28769		
MONDO:0004287	biolink:Disease	pancreatic foamy gland adenocarcinoma	A pancreatic ductal adenocarcinoma characterized by the presence of adenocarcinoma cells with foamy cytoplasm.	DOID:7577|UMLS:C1335303|NCIT:C37256	mondo.json	pancreatic foamy gland adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004287	UMLS:C1335303|NCIT:C37256|DOID:7577	
MONDO:0004286	biolink:Disease	pancreatic intraductal papillary-mucinous neoplasm	A usually slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts. Grossly, it is characterized by the presence of intraductal masses. Morphologically, there is proliferation of mucin-producing cells within the pancreatic ducts, intraductal accumulation of mucin, and a papillary growth pattern. It may be associated with the presence of an invasive carcinoma. It usually occurs in older patients. Signs and symptoms include epigastric pain, weight loss, jaundice, chronic pancreatitis, and diabetes mellitus.	DOID:7575|NCIT:C38342|UMLS:C1518869|ONCOTREE:IPMN	mondo.json	pancreatic intraductal papillary-mucinous neoplasm|pancreatic intraductal papillary-mucinous tumor|intraductal papillary mucinous neoplasm|IPMN|pancreatic IPMN	http://purl.obolibrary.org/obo/MONDO_0004286	NCIT:C38342|DOID:7575	
MONDO:0004289	biolink:Disease	glottis verrucous carcinoma	An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the glottic area of the larynx. It usually presents with hoarseness.	NCIT:C8189|UMLS:C0280329|DOID:7583	mondo.json	verrucous carcinoma of the glottis|glottis verrucous carcinoma|glottic verrucous carcinoma|verrucous carcinoma of glottis	http://purl.obolibrary.org/obo/MONDO_0004289	UMLS:C0280329|DOID:7583|NCIT:C8189	
MONDO:0004288	biolink:Disease	scirrhous breast carcinoma	An infiltrating ductal breast carcinoma associated with stromal fibrosis.	UMLS:C0346151|DOID:7578|SCTID:254839007|ICDO:8514/3|NCIT:C7362	mondo.json	infiltrating carcinoma of the breast with fibrotic Stroma|breast scirrhous carcinoma|scirrhous carcinoma of the breast|infiltrating carcinoma of breast with fibrotic Stroma|scirrhous carcinoma of breast|scirrhous breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0004288	http://identifiers.org/snomedct/254839007|UMLS:C0346151|DOID:7578|NCIT:C7362	
MONDO:0004283	biolink:Disease	vulvar clear cell hidradenocarcinoma	A vulvar sweat gland carcinoma characterized by the presence of clear cells.	NCIT:C40307|UMLS:C1520076|DOID:7567	mondo.json	vulvar clear cell hidradenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004283	UMLS:C1520076|DOID:7567|NCIT:C40307	
MONDO:0004282	biolink:Disease	obsolete eccrine porocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004282		
MONDO:0004285	biolink:Disease	pancreatic intraductal papillary-mucinous carcinoma	A malignant glandular neoplasm arising from the exocrine pancreas. Microscopically it is characterized by the presence of mucoid stroma formation, papillary patterns, and cystic changes. It has been associated with KRAS and Tp53 gene mutations.	Orphanet:424058|DOID:7574|UMLS:C1335304|NCIT:C5725	mondo.json	intraductal papillary-colloid carcinoma of the pancreas|pancreatic intraductal papillary-colloidal carcinoma|intraductal papillary-colloidal carcinoma of pancreas|intraductal papillary-colloidal carcinoma of the pancreas|intraductal papillary-mucinous carcinoma of the pancreas|intraductal papillary-mucinous carcinoma of pancreas|pancreatic intraductal papillary mucinous carcinoma|pancreatic intraductal papillary-mucinous carcinoma|pancreatic intraductal papillary-colloid carcinoma|intraductal papillary mucinous carcinoma of pancreas|intraductal papillary-colloid carcinoma of pancreas	http://purl.obolibrary.org/obo/MONDO_0004285	UMLS:C1335304|NCIT:C5725|DOID:7574|Orphanet:424058	ordo_disease
MONDO:0004284	biolink:Disease	obsolete malignant cystic nephroma		DOID:7571	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004284		
MONDO:0004281	biolink:Disease	vulvar eccrine porocarcinoma	An eccrine porocarcinoma that arises from the sweat glands in the vulva.	NCIT:C40306|DOID:7565|UMLS:C1520081	mondo.json	mammalian vulva eccrine porocarcinoma|eccrine porocarcinoma of mammalian vulva|vulvar eccrine porocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004281	UMLS:C1520081|NCIT:C40306|DOID:7565	
MONDO:0004280	biolink:Disease	asymmetric motor neuropathy		NCIT:C27953|UMLS:C1332341|DOID:7559	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004280	NCIT:C27953|DOID:7559|UMLS:C1332341	
MONDO:0016258	biolink:Disease	uterine corpus carcinofibroma	An uncommon malignant neoplasm arising from the uterine corpus. It is characterized by the presence of a malignant epithelial component and a benign mesenchymal (usually fibrous) component.	NCIT:C40182|UMLS:C1883485|ICDO:8934/3|Orphanet:213605	mondo.json	uterine corpus Carcinofibroma|Carcinofibroma of the corpus uteri	http://purl.obolibrary.org/obo/MONDO_0016258	Orphanet:213605|UMLS:C1883485|NCIT:C40182	ordo_disease
MONDO:0016259	biolink:Disease	carcinosarcoma of the corpus uteri	An aggressive malignant mixed epithelial and mesenchymal tumor that arises from the uterine corpus. It usually affects elderly postmenopausal women and presents with vaginal bleeding. It is characterized by the presence of a malignant epithelial component that is usually glandular and a sarcomatous component.	GARD:0012335|Orphanet:213610|NCIT:C9180	mondo.json	malignant mixed mesodermal neoplasm of the uterus|uterine corpus malignant mixed Mullerian neoplasm|carcinosarcoma of corpus uteri|malignant mixed mesodermal tumor of uterine body|mixed Mullerian cancer of corpus uteri|uterine corpus malignant mixed Müllerian tumor|malignant mixed mesodermal tumor of the uterine body|carcinosarcoma of uterine corpus|carcinosarcoma of the corpus uteri|uterine corpus carcinosarcoma|malignant mixed Müllerian tumor of the corpus uteri|carcinosarcoma of the uterine corpus|uterine mixed Mullerian sarcoma|uterine body malignant mixed mesodermal neoplasm|malignant mixed mesodermal neoplasm of uterine corpus|malignant mixed mesodermal tumor of uterus|uterine corpus malignant mixed mesodermal (Müllerian) tumor|mixed Mullerian sarcoma of uterus|uterine body malignant mixed mesodermal tumor|malignant mixed mesodermal tumor of the uterus|malignant mixed mesodermal neoplasm of the uterine corpus|uterine carcinosarcoma|mixed Mullerian sarcoma of the uterus|carcinosarcoma of the uterus|carcinosarcoma of uterine body|malignant mixed müllerian tumor of corpus uteri|body of uterus carcinosarcoma|uterine corpus malignant mixed Müllerian neoplasm|carcinosarcoma of the uterine body|mixed Müllerian cancer of corpus uteri|uterine corpus malignant mixed Mullerian tumor|malignant mixed mesodermal neoplasm of uterine body|malignant mixed mesodermal tumor of uterine corpus|uterine mixed Müllerian sarcoma|malignant mixed mesodermal neoplasm of the uterine body|malignant mixed mesodermal tumor of the uterine corpus|carcinosarcoma of uterus|uterine corpus malignant mixed mesodermal tumor|uterine corpus malignant mixed mesodermal (Mullerian) tumor|uterine malignant mixed mesodermal tumor|mixed Müllerian sarcoma of uterus|malignant mixed Mullerian tumor of the corpus uteri|corpus uteri malignant mixed mesodermal tumor|mixed Müllerian sarcoma of the uterus|uterine body carcinosarcoma|uterine malignant mixed mesodermal neoplasm|uterine corpus malignant mixed mesodermal neoplasm|malignant mixed mesodermal neoplasm of uterus	http://purl.obolibrary.org/obo/MONDO_0016259	Orphanet:213610|NCIT:C9180	ordo_disease
MONDO:0016254	biolink:Disease	obsolete rare variants of adenocarcinoma of the corpus uteri		UMLS:CN201043|Orphanet:213574	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016254	UMLS:CN201043|Orphanet:213574	ordo_disease
MONDO:0016255	biolink:Disease	uterine corpus mixed epithelial and mesenchymal neoplasm	A primary, benign or malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. Representative examples include adenomyoma, adenosarcoma, and carcinosarcoma.	NCIT:C40181|Orphanet:213589|UMLS:C1519858	mondo.json	body of uterus mixed neoplasm|uterine corpus mixed epithelial and mesenchymal neoplasm|uterine corpus mixed epithelial and mesenchymal tumor|malignant mixed epithelial and mesenchymal tumor of corpus uteri|mixed epithelial and mesenchymal cancer of corpus uteri	http://purl.obolibrary.org/obo/MONDO_0016255	UMLS:C1519858|NCIT:C40181|Orphanet:213589	disease_grouping|ordo_group_of_disorders
MONDO:0016256	biolink:Disease	Hennekam syndrome	Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.	DOID:0060366|OMIMPS:235510|UMLS:C0340834|SCTID:234146006|ICD9:457.1|Orphanet:2136|GARD:0003318	mondo.json	lymphedema-lymphangiectasia-intellectual disability syndrome|Hennekam lymphangiectasia-lymphedema syndrome|lymphedem-lymphangiectasia-intellectual disability syndrome|lymphangiectasies and lymphedema Hennekam type|Hennekam lymphangiectasia lymphedema syndrome|intestinal lymphagiectasia lymphedema intellectual deficit syndrome	http://purl.obolibrary.org/obo/MONDO_0016256	DOID:0060366|https://omim.org/phenotypicSeries/PS235510|UMLS:C0340834|http://identifiers.org/snomedct/234146006|Orphanet:2136	ordo_malformation_syndrome
HGNC:14124	biolink:NamedThing	NPRL3			mondo.json		http://identifiers.org/hgnc/14124		
MONDO:0016257	biolink:Disease	obsolete adenosarcoma of the corpus uteri			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016257		
OBO:mondo#ABBREVIATION	biolink:NamedThing	abbreviation			mondo.json		http://purl.obolibrary.org/obo/mondo#ABBREVIATION		
MONDO:0016250	biolink:Disease	obsolete rare adenocarcinoma of the breast	OBSOLETE. Any of the forms of breast adenocarcinoma that have a rare incidence.	Orphanet:213528|ICD10CM:C50.6|GARD:0012773|ICD10CM:C50.3|ICD10CM:C50.2	mondo.json	rare breast adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0016250	Orphanet:213528	obsoletion_candidate|gard_rare|ordo_disease
OBO:ECTO_9001982	biolink:NamedThing	exposure to anti-inflammatory agent	An exposure to anti-inflammatory agent.		mondo.json	exposure to anti-inflammatory agent	http://purl.obolibrary.org/obo/ECTO_9001982		
MONDO:0016251	biolink:Disease	salivary gland type cancer of the breast	Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma, mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma.	ICD10CM:C50.6|ICD10CM:C50.3|ICD10CM:C50.2|SCTID:716593008|Orphanet:213557|GARD:0012774	mondo.json	salivary gland type carcinoma of the breast	http://purl.obolibrary.org/obo/MONDO_0016251	http://identifiers.org/snomedct/716593008|Orphanet:213557	obsoletion_candidate|ordo_disease|gard_rare
MONDO:0016252	biolink:Disease	obsolete rare uterine cancer	OBSOLETE. Rare uterine cancer.	Orphanet:213564	mondo.json	rare uterine malignant tumor|rare malignant tumor of uterus|rare uterine cancer|rare cancer of uterus	http://purl.obolibrary.org/obo/MONDO_0016252	Orphanet:213564	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
HGNC:16783	biolink:NamedThing	CDC73			mondo.json		http://identifiers.org/hgnc/16783		
MONDO:0016253	biolink:Disease	obsolete rare cancer of corpus uteri		Orphanet:213569	mondo.json	rare malignant tumor of corpus uteri	http://purl.obolibrary.org/obo/MONDO_0016253	Orphanet:213569	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0028226	biolink:Disease	autosomal recessive severe congenital neutropenia		Orphanet:439849	mondo.json		http://purl.obolibrary.org/obo/MONDO_0028226	Orphanet:439849	disease_grouping|ordo_group_of_disorders
MONDO:0004258	biolink:Disease	female orgasmic disorder	A sexual disorder in which a woman fails to achieve orgasm during sexual intercourse.	ICD10CM:F52.31|ICD9:302.73|SCTID:60103007|NCIT:C34958|DOID:7518	mondo.json	female orgasmic disorder|inhibited female orgasm	http://purl.obolibrary.org/obo/MONDO_0004258	NCIT:C34958|http://identifiers.org/snomedct/60103007|DOID:7518|http://purl.bioontology.org/ontology/ICD10CM/F52.31	
MONDO:0004257	biolink:Disease	childhood central nervous system mixed germ cell tumor	A mixed germ cell tumor that arises from the central nervous system and occurs during childhood.	DOID:7516|UMLS:C1332956|NCIT:C27403	mondo.json	pediatric mixed germ cell tumor of central nervous system|childhood mixed germ cell tumor of central nervous system|mixed germ cell tumor of central nervous system of childhood|Central nervous system Mixed germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0004257	UMLS:C1332956|NCIT:C27403|DOID:7516	
MONDO:0004259	biolink:Disease	endocervical carcinoma	A carcinoma that arises from epithelial cells of the endocervix.	NCIT:C28327|SCTID:372098004|UMLS:C1299237|DOID:7519	mondo.json	carcinoma of endocervix|endocervix carcinoma|carcinoma of the endocervix|endocervical adenocarcinoma|endocervical cancer|endocervical carcinoma	http://purl.obolibrary.org/obo/MONDO_0004259	NCIT:C28327|http://identifiers.org/snomedct/372098004|UMLS:C1299237|DOID:7519	
MONDO:0004254	biolink:Disease	focal intraductal papillomatosis		DOID:7512|NCIT:C7365|UMLS:C1333626	mondo.json	localized intraductal papillomatosis|focal intraductal papillomatosis	http://purl.obolibrary.org/obo/MONDO_0004254	NCIT:C7365|UMLS:C1333626	
MONDO:0004253	biolink:Disease	intraductal breast papillomatosis	A benign breast neoplasm characterized by the proliferation of multiple papillomas within the lumen of the ducts.	DOID:7511|NCIT:C5201|UMLS:C1334247	mondo.json	intraductal papillomatosis of breast|breast intraductal papillomatosis|intraductal papillomatosis of the breast|intraductal breast papillomatosis	http://purl.obolibrary.org/obo/MONDO_0004253	NCIT:C5201|UMLS:C1334247|DOID:7511	
MONDO:0004256	biolink:Disease	lumbar spinal canal and spinal cord meningioma	A meningioma that arises from the meninges of the lumbar region of the spinal cord.	UMLS:C1334436|DOID:7515|NCIT:C5298	mondo.json	meningioma of the lumbar spinal canal and spinal cord|meningioma of lumbar spinal canal and spinal cord|lumbar intraspinal meningioma	http://purl.obolibrary.org/obo/MONDO_0004256	NCIT:C5298|UMLS:C1334436|DOID:7515	
MONDO:0004255	biolink:Disease	Wolffian adnexal tumor	A benign or malignant epithelial neoplasm of probable Wolffian origin. It predominantly arises from the broad ligament and presents as a unilateral adnexal mass.	MESH:C536741|DOID:7514|GARD:0008680|UMLS:C1520159|NCIT:C40141	mondo.json	FATWO|Wolffian adenoma|WAT|Wolffian tumor|Wolffian adnexal neoplasm|female adnexal tumor of probable Wolffian origin|Wolffian adnexal tumor	http://purl.obolibrary.org/obo/MONDO_0004255	http://identifiers.org/mesh/C536741|UMLS:C1520159|DOID:7514|NCIT:C40141	
MONDO:0004250	biolink:Disease	extrahepatic bile duct papillary adenoma	An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of a papillary growth pattern.	DOID:7503|UMLS:C1333510|NCIT:C5849	mondo.json	extrahepatic bile duct papillary adenoma|papillary adenoma of the extrahepatic bile duct|papillary adenoma of extrahepatic bile duct	http://purl.obolibrary.org/obo/MONDO_0004250	NCIT:C5849|DOID:7503|UMLS:C1333510	
MONDO:0004252	biolink:Disease	small intestinal L-cell glucagon-like peptide producing tumor	A neuroendocrine tumor that arises from the small intestine and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.	NCIT:C27452|UMLS:C3274143|DOID:7506	mondo.json	small intestinal L-cell glucagon-like peptide-producing neuroendocrine tumor|small intestine L-cell glucagon-like peptide-producing neuroendocrine tumor|small intestinal L-cell glucagon-like peptide-producing NET|small intestinal L-cell, glucagon-like peptide-producing neuroendocrine tumor|L-cell glucagon-like peptide-producing neuroendocrine tumor of small intestine	http://purl.obolibrary.org/obo/MONDO_0004252	NCIT:C27452|UMLS:C3274143|DOID:7506	
MONDO:0004251	biolink:Disease	small intestine neoplasm	A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma.	UMLS:C0345832|NCIT:C4432|SCTID:126832004|DOID:7505	mondo.json	neoplasm of the small intestine|tumor of the small bowel|tumor of small intestine|tumor of small bowel|small bowel neoplasm|tumor of the small intestine|neoplasm of small intestine|neoplasm of the small bowel|neoplasm of small bowel|small intestine tumor|small intestinal neoplasm|small bowel tumor|small intestine neoplasm|small intestine neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0004251	NCIT:C4432|DOID:7505|UMLS:C0345832|http://identifiers.org/snomedct/126832004	
MONDO:0016247	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0016247		
MONDO:0016248	biolink:Disease	familial ovarian cancer	An instance of ovarian cancer that is caused by an inherited modification of the individual's genome.	UMLS:CN201036|Orphanet:213517	mondo.json	hereditary ovarian cancer|familial ovarian malignant tumor|familial ovarian cancer	http://purl.obolibrary.org/obo/MONDO_0016248	Orphanet:213517|UMLS:CN201036	disease_grouping|ordo_group_of_disorders
MONDO:0016249	biolink:Disease	hereditary site-specific ovarian cancer syndrome	Ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients.	UMLS:CN201037|Orphanet:213524	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016249	Orphanet:213524|UMLS:CN201037	ordo_disease
MONDO:0016243	biolink:Disease	hemoglobin E disease	Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation.	ICD9:282.7|SCTID:25065001|DOID:5379|GARD:0002641|Orphanet:2133|UMLS:C0238159|MedDRA:10053215|NCIT:C35287	mondo.json	Hb-E disease|hemoglobin E disease	http://purl.obolibrary.org/obo/MONDO_0016243	http://identifiers.org/snomedct/25065001|UMLS:C0238159|Orphanet:2133|NCIT:C35287|DOID:5379	ordo_disease|gard_rare
MONDO:0016244	biolink:Disease	atypical hemolytic-uremic syndrome	Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.	Orphanet:2134|UMLS:C2931788|MESH:D065766|GARD:0008702|GARD:0006240|NCIT:C123223|DOID:0080301	mondo.json	atypical HUS|aHUS|D-HUS|atypical hemolytic uremic syndrome|hemolytic-uremic syndrome without diarrhea|non-diarrhea-associated hemolytic uremic syndrome|HUS, atypical|D-minus hemolytic uremic syndrome (D-HUS)	http://purl.obolibrary.org/obo/MONDO_0016244	http://identifiers.org/mesh/D065766|UMLS:C2931788|NCIT:C123223|Orphanet:2134|DOID:0080301	ordo_disease|gard_rare
HP:0005541	biolink:PhenotypicFeature	Congenital agranulocytosis	Congenital onset of a marked decrease in the number of granulocytes.	SNOMEDCT_US:89655007|MSH:C537592|UMLS:C1853118	mondo.json		http://purl.obolibrary.org/obo/HP_0005541		
MONDO:0016245	biolink:Disease	obsolete ovarian cancer			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016245		
MONDO:0016246	biolink:Disease	obsolete adenocarcinoma of ovary			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016246		
MONDO:0016240	biolink:Disease	hemimelia	Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity.	SCTID:33076008|Orphanet:2130|MedDRA:10019464|UMLS:C0018987|NCIT:C34674|Orphanet:498491	mondo.json	longitudinal meromelia	http://purl.obolibrary.org/obo/MONDO_0016240	http://identifiers.org/snomedct/33076008|UMLS:C0018987|Orphanet:2130|NCIT:C34674	ordo_group_of_disorders|disease_grouping
MONDO:0016241	biolink:Disease	alternating hemiplegia of childhood	A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.	UMLS:C0338488|MESH:C536589|SCTID:230466004|NCIT:C35261|GARD:0000011|Orphanet:2131|OMIMPS:104290|DOID:0050635	mondo.json	congenital adrenal Hypoplasia|congenital adrenal gland hypoplasia|AHC|adrenal hypoplasia congenita|alternating hemiplegia of childhood|pediatric alternating hemiplegia|alternating hemiplegia syndrome|alternating hemiplegia|childhood alternating hemiplegia	http://purl.obolibrary.org/obo/MONDO_0016241	DOID:0050635|http://identifiers.org/mesh/C536589|UMLS:C0338488|http://identifiers.org/snomedct/230466004|Orphanet:2131|NCIT:C35261|https://omim.org/phenotypicSeries/PS104290	ordo_disease|gard_rare
MONDO:0016242	biolink:Disease	hemoglobin C disease	Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).	ICD9:282.7|GARD:0002640|MESH:D006445|Orphanet:2132|MedDRA:10018883|DOID:2859|SCTID:51053007|UMLS:C0019021|MESH:C531699|NCIT:C34675	mondo.json	Hb C disease|Hb-C disease	http://purl.obolibrary.org/obo/MONDO_0016242	NCIT:C34675|UMLS:C0019021|http://identifiers.org/mesh/D006445|DOID:2859|http://identifiers.org/snomedct/51053007|http://identifiers.org/mesh/C531699|Orphanet:2132	ordo_disease|gard_rare
MONDO:0004269	biolink:Disease	breast cystic hypersecretory carcinoma		DOID:7537	mondo.json	cystic hypersecretory duct carcinoma of the breast|cystic hypersecretory carcinoma of the breast	http://purl.obolibrary.org/obo/MONDO_0004269	DOID:7537	
MONDO:0004268	biolink:Disease	obsolete subareolar duct papillomatosis		DOID:7533	mondo.json	subareolar duct papillomatosis	http://purl.obolibrary.org/obo/MONDO_0004268	DOID:7533	
MONDO:0004265	biolink:Disease	acute endometritis	An acute, usually bacterial infection affecting the endometrium. It is characterized by the presence of neutrophils or microabscesses in the endometrial glands. Symptoms include fever, lower abdominal pain, and vaginal discharge.	SCTID:67667007|UMLS:C0238103|ICD9:615.0|NCIT:C27022|DOID:7528	mondo.json	endometritis, acute	http://purl.obolibrary.org/obo/MONDO_0004265	NCIT:C27022|http://identifiers.org/snomedct/67667007|UMLS:C0238103|DOID:7528	
HGNC:28741	biolink:NamedThing	ILDR1			mondo.json		http://identifiers.org/hgnc/28741		
MONDO:0004264	biolink:Disease	acute gonococcal endometritis		UMLS:C0153196|ICD9:098.16|DOID:7527|UMLS:C0341829|SCTID:65295003	mondo.json	acute gonorrhea of uterus|uterus - acute gonorrhoea|gonococcal endometritis|gonococcal endometritis (acute)	http://purl.obolibrary.org/obo/MONDO_0004264	UMLS:C0341829|UMLS:C0153196|DOID:7527|http://identifiers.org/snomedct/65295003	
MONDO:0004267	biolink:Disease	squamous papillomatosis	A benign squamous neoplasm characterized by a papillary growth pattern, diffusely involving a specific anatomic site.	NCIT:C9009|DOID:7532|UMLS:C1378340|ICDO:8060/0	mondo.json	squamous papillomatosis	http://purl.obolibrary.org/obo/MONDO_0004267	UMLS:C1378340|DOID:7532|NCIT:C9009	
MONDO:0004266	biolink:Disease	anal gland adenocarcinoma	An anal adenocarcinoma arising from the epithelium of the anal glands. The overlying anal mucosa does not show evidence of neoplastic changes.	NCIT:C5609|DOID:7531|UMLS:C1266027|ICDO:8215/3|ONCOTREE:AGA	mondo.json	adenocarcinoma of anal ducts|adenocarcinoma of the anal gland|anal glands adenocarcinoma|adenocarcinoma of anal gland	http://purl.obolibrary.org/obo/MONDO_0004266	NCIT:C5609|DOID:7531|UMLS:C1266027	
MONDO:0004261	biolink:Disease	periductal breast myoepitheliosis	A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells around small breast ducts.	DOID:7520|UMLS:C1518974|NCIT:C40388	mondo.json	periductal breast myoepitheliosis	http://purl.obolibrary.org/obo/MONDO_0004261	UMLS:C1518974|DOID:7520|NCIT:C40388	
MONDO:0004260	biolink:Disease	peptic ulcer perforation	Penetration of a peptic ulcer through the wall of duodenum or stomach allowing the leakage of luminal contents into the peritoneal cavity.	MESH:D010439|DOID:752|UMLS:C0267291|EFO:1001389|UMLS:C0030925|SCTID:79118000	mondo.json	acute peptic ulcer with perforation|peptic ulcer with perforation|perforated peptic ulcer	http://purl.obolibrary.org/obo/MONDO_0004260	http://identifiers.org/mesh/D010439|http://identifiers.org/snomedct/79118000|UMLS:C0267291|DOID:752|UMLS:C0030925	
MONDO:0004263	biolink:Disease	pediatric infratentorial ependymoblastoma	An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children.	DOID:7522|UMLS:C1332972|NCIT:C6773	mondo.json	pediatric infratentorial ependymoblastoma|childhood infratentorial embryonal tumor with Multilayered Rosettes, C19MC-altered|childhood infratentorial ependymoblastoma	http://purl.obolibrary.org/obo/MONDO_0004263	NCIT:C6773|DOID:7522|UMLS:C1332972	
MONDO:0004262	biolink:Disease	breast myoepitheliosis	A multifocal neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within and/or around small breast ducts.	UMLS:C1513799|DOID:7521|NCIT:C40385	mondo.json	breast myoepitheliosis	http://purl.obolibrary.org/obo/MONDO_0004262	NCIT:C40385|DOID:7521|UMLS:C1513799	
HP:0005558	biolink:PhenotypicFeature	Chronic leukemia	A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.	SNOMEDCT_US:128933000|UMLS:C4280478|UMLS:C1279296|SNOMEDCT_US:92812005	mondo.json	Chronic leukaemia|Chronic blood cancer	http://purl.obolibrary.org/obo/HP_0005558		
MONDO:0016236	biolink:Disease	kaposiform hemangioendothelioma	Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions.	SCTID:403983000|MESH:C537007|Orphanet:2122|GARD:0003077|UMLS:C1367420|NCIT:C27510	mondo.json	Kaposiform hemangio-endothelioma|KH|KHE|congenital cutaneous multifocal kaposiform hemangioendothelioma|Kaposiform hemangioendothelioma	http://purl.obolibrary.org/obo/MONDO_0016236	http://identifiers.org/mesh/C537007|UMLS:C1367420|NCIT:C27510|Orphanet:2122|http://identifiers.org/snomedct/403983000	ordo_disease|gard_rare
MONDO:0018899	biolink:Disease	posterior cortical atrophy	Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities.	Orphanet:54247|SCTID:715574002|UMLS:CN205270	mondo.json	biparietal Alzheimer disease|PCA|Benson syndrome	http://purl.obolibrary.org/obo/MONDO_0018899	http://identifiers.org/snomedct/715574002|Orphanet:54247|UMLS:CN205270	ordo_disease
MONDO:0018898	biolink:Disease	primary cutaneous lymphoma	Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular aetiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities.	MedDRA:10051708|UMLS:C1302772|NCIT:C7162|Orphanet:542|SCTID:400001003	mondo.json	cutaneous (skin) lymphoma|primary cutaneous lymphoma|primary skin lymphoma	http://purl.obolibrary.org/obo/MONDO_0018898	Orphanet:542|UMLS:C1302772|NCIT:C7162|http://identifiers.org/snomedct/400001003	disease_grouping|ordo_group_of_disorders
MONDO:0016237	biolink:Disease	diffuse neonatal hemangiomatosis	Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges.	SCTID:254782003|GARD:0001861|Orphanet:2123|UMLS:C0474965	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016237	http://identifiers.org/snomedct/254782003|UMLS:C0474965|Orphanet:2123	gard_rare|ordo_malformation_syndrome
MONDO:0016238	biolink:Disease	solitary fibrous tumor	Solitary fibrous tumor (SFT) represents a diverse group of ubiquitous rare spindle cell neoplasms that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia).	ICDO:8815/1|UMLS:C1266119|MESH:D054364|ICDO:8815/0|MedDRA:10018825|ICDO:9051/0|Orphanet:2126|MESH:D006393|ONCOTREE:SFT|NCIT:C7634|ICD9:238.1	mondo.json	SFT|solitary fibrous tumor|submesothelial fibroma|localized fibrous tumor|localized fibrous mesothelioma|solitary fibrous tumor/hemangiopericytoma|hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0016238	UMLS:C1266119|http://identifiers.org/mesh/D054364|NCIT:C7634|Orphanet:2126	ordo_disease
MONDO:0016239	biolink:Disease	cystinosis	Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.	Orphanet:213|MedDRA:10011777|ICD10CM:E72.04|MESH:D003554|UMLS:C0010690|GARD:0006236|SCTID:190681003|DOID:1064|NCIT:C2976|UMLS:CN035091	mondo.json	cystine disease|cystine storage disease|cystine diathesis|Protein defect of cystin transport|Cystinoses|cystinosis	http://purl.obolibrary.org/obo/MONDO_0016239	Orphanet:213|NCIT:C2976|http://purl.bioontology.org/ontology/ICD10CM/E72.04|http://identifiers.org/snomedct/190681003|DOID:1064|UMLS:CN035091|http://identifiers.org/mesh/D003554	gard_rare|ordo_disease
OBO:ECTO_0001591	biolink:NamedThing	exposure to occupation	An exposure event involving Occupation		mondo.json	Occupation exposure	http://purl.obolibrary.org/obo/ECTO_0001591		
MONDO:0016232	biolink:Disease	obsolete rare venous malformation		Orphanet:211252	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016232	Orphanet:211252	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0018895	biolink:Disease	Plummer-Vinson syndrome	Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs.	ICD9:280.8|SCTID:80126007|Orphanet:54028|GARD:0008259|UMLS:C0032249|NCIT:C85016|MESH:D011004|MedDRA:10040664	mondo.json	Sideropenic dysphagia|Paterson-Brown-Kelly syndrome|Paterson's syndrome|Kelly-Paterson syndrome|Plummer Vinson syndrome|dysphagia sideropenica|Paterson-Kelly syndrome|Kelly's syndrome|Paterson’s syndrome	http://purl.obolibrary.org/obo/MONDO_0018895	http://identifiers.org/mesh/D011004|Orphanet:54028|NCIT:C85016|http://identifiers.org/snomedct/80126007|UMLS:C0032249	gard_rare|ordo_disease
MONDO:0016233	biolink:Disease	obsolete rare lymphatic system malformation		Orphanet:211255|UMLS:CN200997	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016233	UMLS:CN200997|Orphanet:211255	disease_grouping|obsoletion_candidate|ordo_group_of_disorders
HGNC:16762	biolink:NamedThing	ZNF423			mondo.json		http://identifiers.org/hgnc/16762		
MONDO:0018894	biolink:Disease	distal hereditary motor neuropathy		GARD:0012683|SCTID:230247001|Orphanet:53739	mondo.json	distal spinal muscular atrophy|dHMN|dSMA	http://purl.obolibrary.org/obo/MONDO_0018894	Orphanet:53739|http://identifiers.org/snomedct/230247001	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0018897	biolink:Disease	primary cutaneous CD30+ T-cell lymphoproliferative disease		UMLS:CN205268|Orphanet:541|MedDRA:10065863	mondo.json	primary cutaneous Ki-1+ T-cell lymphoproliferative disease	http://purl.obolibrary.org/obo/MONDO_0018897	Orphanet:541|UMLS:CN205268	disease_grouping|ordo_group_of_disorders
MONDO:0016234	biolink:Disease	obsolete rare arteriovenous malformation	OBSOLETE. Rare arteriovenous malformation.	Orphanet:211266|UMLS:CN226888|UMLS:C0334533|MedDRA:10003193|MESH:D001165	mondo.json	rare arteriovenous hemangioma/malformation|rare arteriovenous malformation	http://purl.obolibrary.org/obo/MONDO_0016234	UMLS:CN226888|Orphanet:211266	disease_grouping|obsoletion_candidate|ordo_group_of_disorders
MONDO:0016235	biolink:Disease	obsolete complex vascular malformation with associated anomalies		Orphanet:211277	mondo.json	hemangiolymphangioma	http://purl.obolibrary.org/obo/MONDO_0016235	Orphanet:211277	ordo_group_of_disorders
MONDO:0018896	biolink:Disease	thrombotic thrombocytopenic purpura	Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP.	MESH:D011697|UMLS:C0034155|Orphanet:54057|DOID:10772|MedDRA:10043648|SCTID:78129009|NCIT:C78797	mondo.json	Moschcowitz's syndrome|TTP|Moschcowitz disease|Moschowitz disease	http://purl.obolibrary.org/obo/MONDO_0018896	Orphanet:54057|http://identifiers.org/mesh/D011697|UMLS:C0034155|http://identifiers.org/snomedct/78129009|DOID:10772|NCIT:C78797	ordo_disease
HGNC:14103	biolink:NamedThing	ARHGEF10			mondo.json		http://identifiers.org/hgnc/14103		
MONDO:0018891	biolink:Disease	familial tumoral calcinosis	Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis.	MedDRA:10059364|GARD:0010877|Orphanet:53715	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018891	Orphanet:53715	ordo_disease|gard_rare
MONDO:0018890	biolink:Disease	Lyell syndrome	Lyell syndrome is an extended form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area.	UMLS:CN205258|Orphanet:537	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018890	UMLS:CN205258|Orphanet:537	ordo_clinical_subtype
MONDO:0018893	biolink:Disease	Cobb syndrome	Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution.	NCIT:C4485|SCTID:254774003|Orphanet:53721|GARD:0011892|ICD9:239.2|UMLS:C0346068|MedDRA:10068841	mondo.json	spinal arteriovenous metameric syndrome|Cobb's syndrome|cutaneomeningospinal angiomatosis|SAMS 1-31	http://purl.obolibrary.org/obo/MONDO_0018893	Orphanet:53721|NCIT:C4485|UMLS:C0346068|http://identifiers.org/snomedct/254774003	ordo_malformation_syndrome|gard_rare
MONDO:0016230	biolink:Disease	simple vascular malformation		Orphanet:211243	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016230	Orphanet:211243	ordo_group_of_disorders|disease_grouping
MONDO:0016231	biolink:Disease	capillary malformation		Orphanet:211247|SCTID:234118009	mondo.json	rare capillary malformation|congenital malformation of capillary	http://purl.obolibrary.org/obo/MONDO_0016231	Orphanet:211247|http://identifiers.org/snomedct/234118009	ordo_group_of_disorders|disease_grouping
MONDO:0018892	biolink:Disease	Wyburn-Mason syndrome	Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex.	GARD:0007900|SCTID:6729006|MESH:C536752|MedDRA:10048661|Orphanet:53719|UMLS:C0265321	mondo.json	Wyburn Mason's syndrome|bonnet-Decaume-Blanc syndrome|Wyburn Mason syndrome|arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes|Cerebrofacial arteriovenous metameric syndrome type 2|CAMS2|bonnet-Dechaume-Blanc syndrome	http://purl.obolibrary.org/obo/MONDO_0018892	http://identifiers.org/mesh/C536752|Orphanet:53719|http://identifiers.org/snomedct/6729006|UMLS:C0265321	ordo_malformation_syndrome
MONDO:0006815	biolink:Disease	jejunal cancer	A malignant neoplasm involving the jejunum.	ICD9:152.1|SCTID:363404008|UMLS:C0153427|EFO:1000998|MedDRA:10023166|DOID:13499	mondo.json	malignant jejunum neoplasm|cancer of jejunum|malignant tumor of jejunum|jejunum cancer|malignant neoplasm of jejunum	http://purl.obolibrary.org/obo/MONDO_0006815	DOID:13499|http://identifiers.org/snomedct/363404008|UMLS:C0153427	
MONDO:0006816	biolink:Disease	arthropathy	Any disorder of the joints.	ICD9:719.90|ICD9:716.88|MedDRA:10003285|ICD9:716.98|ICD9:719.89|MESH:D007592|DOID:381|ICD9:719.88|ICD9:719.98|SCTID:399269003|NCIT:C35760|ICD9:716.80|ICD9:719.9|EFO:1000999|ICD9:719.80|UMLS:C0022408|ICD9:716.90|ICD9:711|ICD9:716.9	mondo.json	Joint ankylosis of the shoulder region|Joint ankylosis of the ankle and/or foot|skeletal joint disease|joint disorder|disorder, Joint|ankylosis of forearm joint|Joint disorder|ankylosis of ankle and foot joint|joint disease|Joint ankylosis of the ankle and foot|ankylosis of hand joint|ankylosis of multiple joints|ankylosis of lower leg joint|ankylosis of upper arm joint|Joint ankylosis of the hand|ankylosis of joint of forearm|Joint ankylosis of the forearm|arthropathy|ankylosis of joint of lower leg|Joint ankylosis of the lower leg|disorder of joint|Joint ankylosis of the upper arm|ankylosis of joint of upper arm|ankylosis of joint of pelvic region and thigh|infectious arthropathy|skeletal joint disease or disorder|disorder of skeletal joint|ankylosis of joint of ankle and/or foot|ankylosis of joint of shoulder region|ankylosis of joint of multiple sites|arthrosis|Joint ankylosis of the pelvic region and thigh|disease of skeletal joint|disease or disorder of skeletal joint|ankylosis of joint of hand	http://purl.obolibrary.org/obo/MONDO_0006816	DOID:381|NCIT:C35760|http://identifiers.org/snomedct/399269003|http://identifiers.org/mesh/D007592|UMLS:C0022408	
MONDO:0006813	biolink:Disease	intradermal nevus	A nevus characterized by the proliferation of nevus cells in the dermis without involvement of the dermal-epidermal junction.	MedDRA:10058537|ICDO:8750/0|SCTID:302838006|NCIT:C3804|EFO:1000995|MESH:D018330|UMLS:C0206737	mondo.json	dermal Nevus	http://purl.obolibrary.org/obo/MONDO_0006813	UMLS:C0206737|http://identifiers.org/mesh/D018330|http://identifiers.org/snomedct/302838006|NCIT:C3804	
MONDO:0006814	biolink:Disease	iritis	Inflammation of the iris.	NCIT:C50621|MedDRA:10022955|SCTID:65074000|HP:0001101|EFO:1000997|MESH:D007500|UMLS:C0022081|DOID:1406	mondo.json	inflammation of iris|iris inflammation|iritis|iritis (disease)	http://purl.obolibrary.org/obo/MONDO_0006814	NCIT:C50621|http://identifiers.org/mesh/D007500|UMLS:C0022081|DOID:1406|http://identifiers.org/snomedct/65074000	
MONDO:0006811	biolink:Disease	intracranial hypotension	Reduction of cerebrospinal fluid pressure characterized clinically by headache which is maximal in an upright posture and occasionally by an abducens nerve palsy (see abducens nerve diseases), neck stiffness, hearing loss (see deafness); nausea; and other symptoms. This condition may be spontaneous or secondary to spinal puncture; neurosurgical procedures; dehydration; uremia; trauma (see also craniocerebral trauma); and other processes. Chronic hypotension may be associated with subdural hematomas (see hematoma, subdural) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)	MedDRA:10049977|SCTID:433691000124104|UMLS:C0524812|DOID:4723|ICD9:349.89|EFO:1000993|MESH:D019585	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006811	DOID:4723|UMLS:C0524812|http://identifiers.org/mesh/D019585|http://identifiers.org/snomedct/433691000124104	
HGNC:1856	biolink:NamedThing	CENPE			mondo.json		http://identifiers.org/hgnc/1856		
MONDO:0006812	biolink:Disease	intracranial vasospasm	Constriction of arteries in the skull due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and brain ischemia that may lead to hypoxic-ischemic brain injury (hypoxia-ischemia, brain).	UMLS:C0751895|DOID:13100|MESH:D020301|EFO:1000994	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006812	DOID:13100|UMLS:C0751895|http://identifiers.org/mesh/D020301	
HGNC:1857	biolink:NamedThing	CENPF			mondo.json		http://identifiers.org/hgnc/1857		
CL:3000000	biolink:Cell	ciliated epithelial cell of esophagus	A ciliated epithelial cell of the esophagus.		mondo.json		http://purl.obolibrary.org/obo/CL_3000000		
MONDO:0006810	biolink:Disease	intracranial hypertension	A finding characterized by increased cerebrospinal fluid pressure within the skull.	UMLS:C0151740|DOID:9428|MESH:D019586|MedDRA:10022764|EFO:1000992	mondo.json	raised intracranial pressure	http://purl.obolibrary.org/obo/MONDO_0006810	http://identifiers.org/mesh/D019586|DOID:9428|UMLS:C0151740	
FOODON:03412702	biolink:NamedThing	kid (goat)	A young goat		mondo.json		http://purl.obolibrary.org/obo/FOODON_03412702		
MONDO:0018804	biolink:Disease	MYO5B-related progressive familial intrahepatic cholestasis		UMLS:CN776887|Orphanet:480491	mondo.json	MYO5B deficiency	http://purl.obolibrary.org/obo/MONDO_0018804	Orphanet:480491|UMLS:CN776887	ordo_clinical_subtype
UBERON:0003692	biolink:AnatomicalEntity	acromioclavicular joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003692		
UBERON:0003693	biolink:AnatomicalEntity	retroperitoneal space			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003693		
MONDO:0018803	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0018803		
MONDO:0018806	biolink:Disease	primary intrahepatic lithiasis		Orphanet:480506	mondo.json	primary hepatolithiasis|PIHL	http://purl.obolibrary.org/obo/MONDO_0018806	Orphanet:480506	ordo_disease
UBERON:0003690	biolink:AnatomicalEntity	fused sacrum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003690		
MONDO:0018805	biolink:Disease	bile duct cyst	Cystic dilatation of the hepatic duct or bile duct.	SCTID:397868007|ICD9:751.69|ICD10CM:Q44.4|DOID:899|MESH:D015529|OMIM:603003|GARD:0009229|ICD9:576.8|Orphanet:480501	mondo.json	choledochal cyst|bile duct cysts|choledochal cysts|choledochocele|congenital cystic dilatation of the biliary tract|congenital choledochal cyst	http://purl.obolibrary.org/obo/MONDO_0018805	http://purl.bioontology.org/ontology/ICD10CM/Q44.4|https://omim.org/entry/603003|DOID:899|Orphanet:480501|http://identifiers.org/snomedct/397868007|http://identifiers.org/mesh/D015529	ordo_morphological_anomaly
UBERON:0003691	biolink:AnatomicalEntity	epidural space			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003691		
MONDO:0018800	biolink:Disease	Kallmann syndrome	Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).	UMLS:C0162809|GARD:0010771|MedDRA:10053142|ICD10CM:E23.0|MESH:D017436|Orphanet:478|DOID:3614|NCIT:C75479|SCTID:93559003|ICD9:253.4	mondo.json	congenital hypogonadotropic hypogonadism with anosmia|Kallman's syndrome|hypogonadism with anosmia|familial hypogonadism with anosmia|Kallman syndrome|hypogonadotropic hypogonadism with anosmia|Olfacto-genital pathological sequence	http://purl.obolibrary.org/obo/MONDO_0018800	UMLS:C0162809|Orphanet:478|NCIT:C75479|http://identifiers.org/snomedct/93559003|DOID:3614|http://identifiers.org/mesh/D017436	ordo_disease
MONDO:0018802	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0018802		
MONDO:0018801	biolink:Disease	congenital bilateral absence of vas deferens	Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility.	MedDRA:10010670|ICD9:752.89|SCTID:275416002|OMIMPS:277180|GARD:0005461|Orphanet:48	mondo.json	congenital bilateral aplasia of vas deferens|congenital bilateral agenesis of vas deferens	http://purl.obolibrary.org/obo/MONDO_0018801	https://omim.org/phenotypicSeries/PS277180|http://identifiers.org/snomedct/275416002|Orphanet:48	ordo_morphological_anomaly
UBERON:0001037	biolink:AnatomicalEntity	strand of hair			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001037		
HGNC:16732	biolink:NamedThing	MCEE			mondo.json		http://identifiers.org/hgnc/16732		
MONDO:0006808	biolink:Disease	intracranial arterial disease	Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes.	EFO:1000990|UMLS:C0752138|MESH:D020765|DOID:13089	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006808	http://identifiers.org/mesh/D020765|UMLS:C0752138|DOID:13089	
UBERON:0003696	biolink:AnatomicalEntity	metatarsophalangeal joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003696		
UBERON:0001033	biolink:AnatomicalEntity	gustatory system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001033		
UBERON:0001032	biolink:AnatomicalEntity	sensory system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001032		
MONDO:0006809	biolink:Disease	intracranial embolism	Blocking of a blood vessel in the skull by an embolus which can be a blood clot (thrombus) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with heart diseases. Other non-cardiac sources of emboli are usually associated with vascular diseases.	ICD9:434.10|SCTID:75543006|ICD9:434.1|EFO:1000991|DOID:4372|MESH:D020766	mondo.json	cerebral embolism with cerebral infarction|cerebral embolism	http://purl.obolibrary.org/obo/MONDO_0006809	http://identifiers.org/mesh/D020766|DOID:4372|http://identifiers.org/snomedct/75543006	
UBERON:0003697	biolink:AnatomicalEntity	abdominal wall			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003697		
MONDO:0006806	biolink:Disease	intermediate uveitis	Inflammation of the pars plana.	SCTID:314429009|Orphanet:279914|UMLS:C0042166|NCIT:C35110|MedDRA:10022557|HP:0012124|MESH:D015867|DOID:12732|EFO:1000986	mondo.json	IU|pars planitis|chronic cyclitis|peripheral uveoretinitis|intermediate uveitis|intermediate uveitis (disease)	http://purl.obolibrary.org/obo/MONDO_0006806	NCIT:C35110|http://identifiers.org/mesh/D015867|UMLS:C0042166|http://identifiers.org/snomedct/314429009|Orphanet:279914|DOID:12732	ordo_disease
MONDO:0006807	biolink:Disease	intestinal perforation	A rupture in the wall of the small or large intestine due to traumatic or pathologic processes.	SCTID:56905009|NCIT:C39611|UMLS:C0021845|ICD9:777.6|MedDRA:10022694|EFO:1000987|MESH:D007416|ICD9:569.83|DOID:2074	mondo.json	bowel perforation|perforation of intestine	http://purl.obolibrary.org/obo/MONDO_0006807	http://identifiers.org/snomedct/56905009|http://identifiers.org/mesh/D007416|DOID:2074|NCIT:C39611|UMLS:C0021845	
UBERON:0003695	biolink:AnatomicalEntity	metacarpophalangeal joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003695		
MONDO:0006826	biolink:Disease	kwashiorkor	A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)	UMLS:C0022806|MedDRA:10023504|ICD9:260|DOID:13579|EFO:1001009|ICD10CM:E40|MESH:D007732|SCTID:58262005	mondo.json	Kwashiokor|nutritional edema with dyspigmentation of skin and hair|nutritional oedema with dyspigmentation of skin and/or hair	http://purl.obolibrary.org/obo/MONDO_0006826	http://purl.bioontology.org/ontology/ICD10CM/E40|DOID:13579|http://identifiers.org/mesh/D007732|http://identifiers.org/snomedct/58262005|UMLS:C0022806	
HGNC:28727	biolink:NamedThing	APOO			mondo.json		http://identifiers.org/hgnc/28727		
MONDO:0006827	biolink:Disease	lateral medullary syndrome	A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking.	UMLS:C0043019|EFO:1001011|MedDRA:10024033|MESH:D014854|NCIT:C84807|SCTID:78569004|ICD9:437.1|DOID:3522|GARD:0009263	mondo.json	Lateral medullary syndrome|PICA syndrome|Vertebral artery syndrome|Posterior inferior cerebellar artery syndrome|Wallenberg's syndrome|Wallenberg syndrome	http://purl.obolibrary.org/obo/MONDO_0006827	http://identifiers.org/mesh/D014854|DOID:3522|http://identifiers.org/snomedct/78569004|NCIT:C84807|UMLS:C0043019	gard_rare
GO:1901859	biolink:NamedThing	negative regulation of mitochondrial DNA metabolic process	Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial DNA metabolic process.		mondo.json	downregulation of mtDNA metabolism|downregulation of mtDNA metabolic process|downregulation of mitochondrial DNA metabolism|down regulation of mtDNA metabolism|inhibition of mtDNA metabolic process|down regulation of mitochondrial DNA metabolism|negative regulation of mtDNA metabolism|down-regulation of mitochondrial DNA metabolic process|down-regulation of mtDNA metabolism|negative regulation of mtDNA metabolic process|negative regulation of mitochondrial DNA metabolism|down-regulation of mtDNA metabolic process|down-regulation of mitochondrial DNA metabolism|down regulation of mitochondrial DNA metabolic process|inhibition of mtDNA metabolism|down regulation of mtDNA metabolic process|inhibition of mitochondrial DNA metabolic process|inhibition of mitochondrial DNA metabolism|downregulation of mitochondrial DNA metabolic process	http://purl.obolibrary.org/obo/GO_1901859		
MONDO:0006824	biolink:Disease	Krebs 2 carcinoma	Carcinoma having known association to krebs2 gene mutation	MESH:D002287|EFO:1001007|UMLS:C0007128	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006824	UMLS:C0007128|http://identifiers.org/mesh/D002287	
HGNC:1869	biolink:NamedThing	CETP			mondo.json		http://identifiers.org/hgnc/1869		
MONDO:0006825	biolink:Disease	kuru	A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)	SCTID:86188000|DOID:648|ICD10CM:A81.81|MedDRA:10023497|ICD9:046.0|EFO:1001008|MESH:D007729|UMLS:C0022802|Orphanet:454745|GARD:0007617	mondo.json	kuru encephalopathy	http://purl.obolibrary.org/obo/MONDO_0006825	DOID:648|http://identifiers.org/mesh/D007729|http://identifiers.org/snomedct/86188000|UMLS:C0022802|http://purl.bioontology.org/ontology/ICD10CM/A81.81|Orphanet:454745	gard_rare|ordo_disease
GO:1901857	biolink:NamedThing	positive regulation of cellular respiration	Any process that activates or increases the frequency, rate or extent of cellular respiration.		mondo.json	up regulation of cellular respiration|up-regulation of oxidative metabolism|up regulation of oxidative metabolic process|up-regulation of respiration|activation of cellular respiration|up-regulation of cellular respiration|positive regulation of oxidative metabolic process|up regulation of respiration|positive regulation of respiration|activation of oxidative metabolism|upregulation of oxidative metabolism|upregulation of oxidative metabolic process|activation of oxidative metabolic process|upregulation of cellular respiration|upregulation of respiration|activation of respiration|positive regulation of oxidative metabolism|up regulation of oxidative metabolism|up-regulation of oxidative metabolic process	http://purl.obolibrary.org/obo/GO_1901857		
UBERON:0001019	biolink:AnatomicalEntity	nerve fasciculus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001019		
MONDO:0006822	biolink:Disease	obsolete Klatskin's tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006822		
MONDO:0006823	biolink:Disease	Klinefelter syndrome	A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.	DOID:1921|UMLS:C0022735|MedDRA:10023463|NCIT:C34752|MESH:D007713|EFO:1001006|ICD9:758.7|SCTID:405769009	mondo.json	hypogonadotropic hypogonadism|Klinefelter's syndrome, XXY|Klinefelter syndrome|47,XXY syndrome|XXY syndrome|XXY trisomy|XXY syndrome (Klinefelter syndrome)|Klinefelter's syndrome	http://purl.obolibrary.org/obo/MONDO_0006823	NCIT:C34752|http://identifiers.org/mesh/D007713|UMLS:C0022735|DOID:1921|http://identifiers.org/snomedct/405769009	
GO:1901858	biolink:NamedThing	regulation of mitochondrial DNA metabolic process	Any process that modulates the frequency, rate or extent of mitochondrial DNA metabolic process.		mondo.json	regulation of mtDNA metabolism|regulation of mitochondrial DNA metabolism|regulation of mtDNA metabolic process	http://purl.obolibrary.org/obo/GO_1901858		
UBERON:0001018	biolink:AnatomicalEntity	axon tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001018		
MONDO:0006820	biolink:Disease	kidney cortex necrosis	Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity.	SCTID:444691002|DOID:2973|MedDRA:10023414|MESH:D007673|EFO:1001003|ICD9:583.6	mondo.json	renal cortical necrosis	http://purl.obolibrary.org/obo/MONDO_0006820	http://identifiers.org/mesh/D007673|http://identifiers.org/snomedct/444691002|DOID:2973	
GO:1901856	biolink:NamedThing	negative regulation of cellular respiration	Any process that stops, prevents or reduces the frequency, rate or extent of cellular respiration.		mondo.json	downregulation of oxidative metabolism|downregulation of respiration|downregulation of cellular respiration|inhibition of oxidative metabolic process|down regulation of oxidative metabolism|inhibition of respiration|down regulation of cellular respiration|down-regulation of oxidative metabolism|down-regulation of oxidative metabolic process|negative regulation of oxidative metabolism|negative regulation of oxidative metabolic process|inhibition of cellular respiration|down-regulation of cellular respiration|down-regulation of respiration|negative regulation of respiration|down regulation of oxidative metabolic process|inhibition of oxidative metabolism|down regulation of respiration|downregulation of oxidative metabolic process	http://purl.obolibrary.org/obo/GO_1901856		
MONDO:0006821	biolink:Disease	kidney papillary necrosis	A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure.	MedDRA:10028865|UMLS:C0022667|DOID:2981|SCTID:90241004|MESH:D007681|ICD9:583.7|EFO:1001004	mondo.json	renal papillitis necrotizing|papillary necrosis|necrotizing renal papillitis	http://purl.obolibrary.org/obo/MONDO_0006821	http://identifiers.org/mesh/D007681|http://identifiers.org/snomedct/90241004|UMLS:C0022667|DOID:2981	
CHEBI:22478	biolink:ChemicalSubstance	amino alcohol	An alcohol containing an amino functional group in addition to the alcohol-defining hydroxy group.		mondo.json	aminoalcohols|aminoalcohol|amino alcohols	http://purl.obolibrary.org/obo/CHEBI_22478		
HGNC:28722	biolink:NamedThing	COQ5			mondo.json		http://identifiers.org/hgnc/28722		
UBERON:0003682	biolink:AnatomicalEntity	palatal muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003682		
UBERON:0001020	biolink:AnatomicalEntity	nervous system commissure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001020		
GO:0060986	biolink:NamedThing	endocrine hormone secretion	The regulated release of a hormone into the circulatory system.		mondo.json		http://purl.obolibrary.org/obo/GO_0060986		
UBERON:0003689	biolink:AnatomicalEntity	sella turcica			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003689		
HGNC:1875	biolink:NamedThing	CFL2			mondo.json		http://identifiers.org/hgnc/1875		
UBERON:0001028	biolink:AnatomicalEntity	diaphysis of radius			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001028		
UBERON:0003687	biolink:AnatomicalEntity	foramen magnum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003687		
UBERON:0001027	biolink:AnatomicalEntity	sensory nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001027		
UBERON:0003688	biolink:AnatomicalEntity	omentum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003688		
UBERON:0003685	biolink:AnatomicalEntity	cranial suture			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003685		
MONDO:0006819	biolink:Disease	obsolete kernicterus			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006819		
UBERON:0001021	biolink:AnatomicalEntity	nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001021		
MONDO:0006817	biolink:Disease	juxtacortical osteosarcoma	A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent.	ONCOTREE:PAOS|ICDO:9192/3|EFO:1001000|DOID:3373|MESH:D018217|NCIT:C8969|UMLS:C0206642	mondo.json	juxtacortical osteosarcoma|parosteal osteogenic sarcoma|PAOS|juxtacortical osteogenic sarcoma|parosteal osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0006817	UMLS:C0206642|DOID:3373|NCIT:C8969|http://identifiers.org/mesh/D018217	
MONDO:0006818	biolink:Disease	obsolete keratoconjunctivitis sicca			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006818		
UBERON:0003684	biolink:AnatomicalEntity	abdominal cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003684		
UBERON:0001008	biolink:AnatomicalEntity	renal system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001008		
UBERON:0001007	biolink:AnatomicalEntity	digestive system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001007		
UBERON:0001009	biolink:AnatomicalEntity	circulatory system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001009		
GO:1901862	biolink:NamedThing	negative regulation of muscle tissue development	Any process that stops, prevents or reduces the frequency, rate or extent of muscle tissue development.		mondo.json	downregulation of muscle tissue development|down-regulation of muscle tissue development|down regulation of muscle tissue development|inhibition of muscle tissue development	http://purl.obolibrary.org/obo/GO_1901862		
GO:1901863	biolink:NamedThing	positive regulation of muscle tissue development	Any process that activates or increases the frequency, rate or extent of muscle tissue development.		mondo.json	up-regulation of muscle tissue development|up regulation of muscle tissue development|activation of muscle tissue development|upregulation of muscle tissue development	http://purl.obolibrary.org/obo/GO_1901863		
GO:1901860	biolink:NamedThing	positive regulation of mitochondrial DNA metabolic process	Any process that activates or increases the frequency, rate or extent of mitochondrial DNA metabolic process.		mondo.json	positive regulation of mtDNA metabolic process|activation of mtDNA metabolism|upregulation of mtDNA metabolism|upregulation of mitochondrial DNA metabolic process|activation of mitochondrial DNA metabolism|upregulation of mtDNA metabolic process|upregulation of mitochondrial DNA metabolism|activation of mtDNA metabolic process|positive regulation of mtDNA metabolism|up regulation of mtDNA metabolism|positive regulation of mitochondrial DNA metabolism|up-regulation of mitochondrial DNA metabolic process|up regulation of mitochondrial DNA metabolism|up-regulation of mtDNA metabolism|up-regulation of mtDNA metabolic process|up regulation of mitochondrial DNA metabolic process|activation of mitochondrial DNA metabolic process|up-regulation of mitochondrial DNA metabolism|up regulation of mtDNA metabolic process	http://purl.obolibrary.org/obo/GO_1901860		
GO:1901861	biolink:NamedThing	regulation of muscle tissue development	Any process that modulates the frequency, rate or extent of muscle tissue development.		mondo.json		http://purl.obolibrary.org/obo/GO_1901861		
NCBITaxon:2726946	biolink:OrganismalEntity	Cladosporiales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2726946		
CHEBI:2679	biolink:ChemicalSubstance	amphetamine	A racemate comprising equimolar amounts of (R)-amphetamine (also known as levamphetamine or levoamphetamine) and (S)-amphetamine (also known as dexamfetamine or dextroamphetamine.		mondo.json	1-Phenylpropan-2-amin|anfetamina|rac-amphetamine|desoxynorephedrine|amfetamina|Amphetamine|amphetamine|beta-aminopropylbenzene|alpha-methylbenzeneethaneamine|Amphetamin|rac-(2R)-1-phenylpropan-2-amine|amfetaminum|1-phenyl-2-aminopropane|amphetaminium|Benzedrine|Amfetamine|amfetamine|beta-Phenylisopropylamin|beta-phenylisopropylamine|alpha-methylphenylethylamine	http://purl.obolibrary.org/obo/CHEBI_2679		
UBERON:0001015	biolink:AnatomicalEntity	musculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001015		
UBERON:0003679	biolink:AnatomicalEntity	mouth floor			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003679		
UBERON:0001017	biolink:AnatomicalEntity	central nervous system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001017		
HGNC:1884	biolink:NamedThing	CFTR			mondo.json		http://identifiers.org/hgnc/1884		
UBERON:0001016	biolink:AnatomicalEntity	nervous system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001016		
UBERON:0001010	biolink:AnatomicalEntity	diaphysis of ulna			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001010		
UBERON:0001013	biolink:AnatomicalEntity	adipose tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001013		
GO:0070330	biolink:NamedThing	aromatase activity	Catalysis of the reduction of an aliphatic ring to yield an aromatic ring.		mondo.json	estrogen synthetase activity	http://purl.obolibrary.org/obo/GO_0070330		
UBERON:0003672	biolink:AnatomicalEntity	dentition			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003672		
MONDO:0006804	biolink:Disease	inflammatory breast carcinoma	An advanced, invasive breast adenocarcinoma characterized by the presence of distinct changes in the overlying skin. These changes include diffuse erythema, edema, peau d'orange (skin of an orange) appearance, tenderness, induration, warmth, enlargement, and in some cases a palpable mass. The skin changes are the consequence of lymphatic obstruction from the underlying invasive breast adenocarcinoma. Microscopically, the dermal lymphatics show prominent infiltration by malignant cells. The invasive breast adenocarcinoma is usually of ductal, NOS type. There is not significant inflammatory cell infiltrate present, despite the name of this carcinoma.	EFO:1000984|ONCOTREE:IBC|DOID:6263|ICDO:8530/3|NCIT:C4001|MedDRA:10006205|MESH:D058922|UMLS:C0278601|SCTID:254840009|GARD:0006784	mondo.json	mastitis carcinomatosa|breast cancer, inflammatory|mastitis Carcinomatosa|inflammatory carcinoma of breast|inflammatory carcinoma of the breast|inflammatory breast cancer|inflammatory breast carcinoma|IBC	http://purl.obolibrary.org/obo/MONDO_0006804	UMLS:C0278601|NCIT:C4001|http://identifiers.org/mesh/D058922|http://identifiers.org/snomedct/254840009|DOID:6263	
MONDO:0006805	biolink:Disease	intermediate coronary syndrome	Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest.	MESH:D000789|UMLS:C0002965|DOID:8805|MedDRA:10022554|ICD9:411.1|EFO:1000985|ICD10CM:I20.0	mondo.json	Preinfarction angina|angina at rest|worsening angina|unstable angina|impending infarction|anginal chest pain at rest	http://purl.obolibrary.org/obo/MONDO_0006805	UMLS:C0002965|http://identifiers.org/mesh/D000789|http://purl.bioontology.org/ontology/ICD10CM/I20.0|DOID:8805	
MONDO:0006802	biolink:Disease	inappropriate ADH syndrome	A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body.	UMLS:C0021141|ICD9:253.6|EFO:1000982|NCIT:C3988|MedDRA:10042818|SCTID:55004003|DOID:3401|Orphanet:83449|MESH:D007177	mondo.json	SIADH|syndrome of inappropriate antidiuretic hormone secretion|ectopic ADH secretion|inappropriate antidiuretic hormone secretion syndrome|inappropriate Arginine vasopressin secretion|ectopic antidiuretic hormone secretion|syndrome of inappropriate antidiuretic hormone|syndrome of inappropriate secretion of antidiuretic hormone|syndrome of inappropriate vasopressin secretion|syndrome of inappropriate secretion of ADH|inappropriate ADH secretion	http://purl.obolibrary.org/obo/MONDO_0006802	http://identifiers.org/mesh/D007177|DOID:3401|Orphanet:83449|http://identifiers.org/snomedct/55004003|UMLS:C0021141|NCIT:C3988	
MONDO:0006803	biolink:Disease	inferior myocardial infarction	Myocardial infarction in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery.	EFO:1000983|MedDRA:10057546|UMLS:C0340305|MESH:D056989|DOID:5850	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006803	http://identifiers.org/mesh/D056989|DOID:5850|UMLS:C0340305	
MONDO:0006800	biolink:Disease	ideomotor apraxia	A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)	MESH:D020240|EFO:1000980|ICD9:315.8|DOID:4627|SCTID:229706001|MedDRA:10021216	mondo.json	classic apraxia (finding) [ambiguous]|limb-kinetic apraxia (finding)|transcortical apraxia (finding)|classic apraxia|limb-kinetic apraxia|ideomotor dyspraxia|transcortical apraxia	http://purl.obolibrary.org/obo/MONDO_0006800	http://identifiers.org/snomedct/229706001|DOID:4627|http://identifiers.org/mesh/D020240	
MONDO:0006801	biolink:Disease	ileal neoplasm	A benign or malignant neoplasm that affects the wall of the ileum. Representative examples include adenoma, carcinoma, and lymphoma.	EFO:1000981|DOID:10156|UMLS:C0020876|NCIT:C3130|SCTID:126835002|MESH:D007078	mondo.json	ileal tumor|tumor of the ileum|neoplasm of ileum|ileum neoplasm|ileum tumor|tumor of ileum|neoplasm of the ileum|ileum neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0006801	http://identifiers.org/mesh/D007078|DOID:10156|NCIT:C3130|http://identifiers.org/snomedct/126835002|UMLS:C0020876	
UBERON:0003658	biolink:AnatomicalEntity	hip muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003658		
UBERON:0003659	biolink:AnatomicalEntity	pedal digit muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003659		
UBERON:2001457	biolink:AnatomicalEntity	postcranial axial cartilage			mondo.json		http://purl.obolibrary.org/obo/UBERON_2001457		
UBERON:0003660	biolink:AnatomicalEntity	eyelid muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003660		
NCBITaxon:69474	biolink:OrganismalEntity	Orientia		GC_ID:11|PMID:8590688	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_69474		
HGNC:16725	biolink:NamedThing	DNAAF11			mondo.json		http://identifiers.org/hgnc/16725		
GO:0070327	biolink:NamedThing	thyroid hormone transport	The directed movement of thyroid hormone into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	thyroxine transport|triiodothyronine transport	http://purl.obolibrary.org/obo/GO_0070327		
UBERON:0001004	biolink:AnatomicalEntity	respiratory system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001004		
UBERON:0001003	biolink:AnatomicalEntity	skin epidermis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001003		
UBERON:0003668	biolink:AnatomicalEntity	synovial bursa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003668		
UBERON:0003665	biolink:AnatomicalEntity	post-anal tail muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003665		
GO:0070324	biolink:NamedThing	thyroid hormone binding	Binding to thyroxine (T4) or triiodothyronine (T3), tyrosine-based hormones produced by the thyroid gland.		mondo.json	thyroxine binding|triiodothyronine binding	http://purl.obolibrary.org/obo/GO_0070324		
UBERON:0001005	biolink:AnatomicalEntity	respiratory airway			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001005		
UBERON:0001000	biolink:AnatomicalEntity	vas deferens			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001000		
UBERON:0003663	biolink:AnatomicalEntity	hindlimb muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003663		
UBERON:0003664	biolink:AnatomicalEntity	manual digit muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003664		
UBERON:0003661	biolink:AnatomicalEntity	limb muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003661		
UBERON:0003662	biolink:AnatomicalEntity	forelimb muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003662		
MONDO:0006859	biolink:Disease	mucinous cystadenoma	A benign or low malignant potential cystic epithelial neoplasm composed of cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung.	MESH:D018291|NCIT:C2973|EFO:1001048|ICDO:8470/0|ICDO:8480/0|UMLS:C0010635	mondo.json	mucinous adenoma|adenoma, mucinous, benign|mucinous cystadenoma|pseudomucinous cystadenoma|mucinous cystoma	http://purl.obolibrary.org/obo/MONDO_0006859	http://identifiers.org/mesh/D018291|UMLS:C0010635|NCIT:C2973	
MONDO:0006857	biolink:Disease	middle cerebral artery infarction	Necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. Clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction.	DOID:3525|MESH:D020244|UMLS:C0740392|EFO:1001045	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006857	http://identifiers.org/mesh/D020244|UMLS:C0740392|DOID:3525	
MONDO:0006858	biolink:Disease	mouth disorder	A disease involving the mouth.	SCTID:118938008|UMLS:C0026636|MESH:D009059|DOID:403|ICD9:528.9|NCIT:C3240|EFO:1001047	mondo.json	disorder of mouth|oral disease|mouth disease|disease or disorder of mouth|disease of mouth|oral disorder|mouth disease or disorder	http://purl.obolibrary.org/obo/MONDO_0006858	http://identifiers.org/snomedct/118938008|NCIT:C3240|http://identifiers.org/mesh/D009059|DOID:403|UMLS:C0026636	obsoletion_candidate
MONDO:0006855	biolink:Disease	mesenteric vascular occlusion	Obstruction of the flow in the splanchnic circulation by atherosclerosis; embolism; thrombosis; stenosis; trauma; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as periarteritis nodosa and thromboangiitis obliterans. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)	UMLS:C0025472|DOID:13252|MedDRA:10074583|MESH:D008641|EFO:1001043	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006855	UMLS:C0025472|DOID:13252|http://identifiers.org/mesh/D008641	
MONDO:0006856	biolink:Disease	mesothelial neoplasm	A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003	ICD10CM:C45-C49|MESH:D018301|EFO:1001044|UMLS:C3714739|NCIT:C3786	mondo.json	mesothelial tumor|mesothelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0006856	http://identifiers.org/mesh/D018301|NCIT:C3786|UMLS:C3714739	
MONDO:0006853	biolink:Disease	mesenchymal chondrosarcoma	A morphologic variant of chondrosarcoma arising from bone and soft tissue. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases.	UMLS:C0206637|MedDRA:10027389|DOID:4545|ICDO:9240/3|MESH:D018211|NCIT:C3737|ONCOTREE:MCHS|EFO:1001041	mondo.json	mesenchymal chondrosarcoma	http://purl.obolibrary.org/obo/MONDO_0006853	NCIT:C3737|DOID:4545|UMLS:C0206637|http://identifiers.org/mesh/D018211	
MONDO:0006854	biolink:Disease	mesenchymoma	A term describing a soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.	ICDO:8990/1|DOID:2668|UMLS:C0025464|MESH:D008637|NCIT:C3233|EFO:1001042	mondo.json	mesenchymoma	http://purl.obolibrary.org/obo/MONDO_0006854	NCIT:C3233|UMLS:C0025464|http://identifiers.org/mesh/D008637|DOID:2668	
MONDO:0006851	biolink:Disease	meconium aspiration syndrome	A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date.	MedDRA:10027057|Orphanet:70588|DOID:11049|EFO:1001037|UMLS:C0025048|MESH:D008471|ICD9:770.1|SCTID:206292002|GARD:0010494|NCIT:C87093	mondo.json	aspiration, meconium|meconium aspiration|neonatal aspiration of meconium|syndrome, meconium aspiration|meconium inhalation|aspiration syndrome, meconium|MAS|meconium aspiration syndrome	http://purl.obolibrary.org/obo/MONDO_0006851	http://identifiers.org/snomedct/206292002|UMLS:C0025048|NCIT:C87093|http://identifiers.org/mesh/D008471|DOID:11049|Orphanet:70588	ordo_disease
MONDO:0006852	biolink:Disease	obsolete meningococcal meningitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006852		
MONDO:0006850	biolink:Disease	maxillary sinus neoplasm	A benign or malignant neoplasm that affects the maxillary sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	MedDRA:10026130|DOID:1358|MESH:D008444|EFO:1001035|SCTID:126676009|NCIT:C3219|UMLS:C0024958	mondo.json	tumor of maxillofacial sinus|maxillary sinus neoplasm (disease)|tumor of the maxillofacial sinus|neoplasm of maxillary sinus|tumor of the maxillary sinus|maxillary sinus tumor|neoplasm of maxillary antrum|neoplasm of the maxillary antrum|maxillary antrum tumor|maxillary sinus neoplasm|neoplasm of the maxillofacial sinus|neoplasm of maxillofacial sinus|maxillofacial sinus tumor|maxillofacial sinus neoplasm|tumor of maxillary sinus|neoplasm of the maxillary sinus|tumor of maxillary antrum|maxillary antrum neoplasm|tumor of the maxillary antrum	http://purl.obolibrary.org/obo/MONDO_0006850	NCIT:C3219|http://identifiers.org/snomedct/126676009|http://identifiers.org/mesh/D008444|UMLS:C0024958|DOID:1358	
MONDO:0018848	biolink:Disease	IgG4-related retroperitoneal fibrosis	Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle.	GARD:0009568|SCTID:197808006|NCIT:C26876|MedDRA:10038979|Orphanet:49041|ICD9:593.4|MESH:D012185	mondo.json	retroperitoneal fibrosis|idiopathic retroperitoneal fibrosis|Ormond disease|Ormond's disease	http://purl.obolibrary.org/obo/MONDO_0018848	http://identifiers.org/snomedct/197808006|NCIT:C26876|http://identifiers.org/mesh/D012185|Orphanet:49041	ordo_disease
UBERON:0001073	biolink:AnatomicalEntity	ileocecal junction			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001073		
MONDO:0018847	biolink:Disease	omphalomesenteric cyst		Orphanet:490|GARD:0004081|SCTID:80880002	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018847	http://identifiers.org/snomedct/80880002|Orphanet:490	ordo_morphological_anomaly|gard_rare
UBERON:0001072	biolink:AnatomicalEntity	posterior vena cava			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001072		
UBERON:0001075	biolink:AnatomicalEntity	bony vertebral centrum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001075		
MONDO:0018849	biolink:Disease	dentinogenesis imperfecta	Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development.	NCIT:C84667|GARD:0006258|DOID:4154|UMLS:C0011436|ICD9:520.5|MESH:D003811|SCTID:196286005|HP:0000703|MedDRA:10054013|Orphanet:49042	mondo.json	dentinogenesis imperfecta (disease)|opalescent teeth without osteogenesis imperfecta|DGI without OI|DGI|DI|opalescent teeth without OI|dentinogenesis imperfecta|dentinogenesis imperfecta without osteogenesis imperfecta|non-syndromic DGI|non-syndromic dentinogenesis imperfecta	http://purl.obolibrary.org/obo/MONDO_0018849	http://identifiers.org/snomedct/196286005|NCIT:C84667|http://identifiers.org/mesh/D003811|DOID:4154|Orphanet:49042|UMLS:C0011436	ordo_disease
UBERON:0001074	biolink:AnatomicalEntity	pericardial cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001074		
MONDO:0018844	biolink:Disease	urachal cyst	Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever.	GARD:0005425|SCTID:17234001|HP:0012618|MedDRA:10065375|MESH:D014496|NCIT:C85216|Orphanet:488	mondo.json	urachal cyst|urachal cyst (disease)	http://purl.obolibrary.org/obo/MONDO_0018844	http://identifiers.org/mesh/D014496|http://identifiers.org/snomedct/17234001|Orphanet:488|NCIT:C85216	ordo_morphological_anomaly
MONDO:0018843	biolink:Disease	embryonal carcinoma of the central nervous system	A embryonal carcinoma that involves the central nervous system.	ONCOTREE:BEC|DOID:7232|NCIT:C7010|Orphanet:48736|UMLS:C1333377	mondo.json	embryonal carcinoma|embryonal carcinoma of the CNS|embryonal carcinoma of the central nervous system|central nervous system embryonal carcinoma|embryonal carcinoma of CNS	http://purl.obolibrary.org/obo/MONDO_0018843	Orphanet:48736|DOID:7232|UMLS:C1333377|NCIT:C7010	ordo_clinical_subtype
MONDO:0018846	biolink:Disease	penile agenesis	An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities.	NCIT:C99009|SCTID:59981001|GARD:0004272|MESH:C536649|Orphanet:49	mondo.json	congenital absence of penis|Aphallia|Aphallus|agenesis of the penis|penis agenesia|micropenis|penis agenesis	http://purl.obolibrary.org/obo/MONDO_0018846	Orphanet:49|http://identifiers.org/snomedct/59981001|http://identifiers.org/mesh/C536649|NCIT:C99009	ordo_morphological_anomaly
UBERON:0001071	biolink:AnatomicalEntity	superficial cervical artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001071		
MONDO:0018845	biolink:Disease	focal myositis	Focal myositis is a rare inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities.	Orphanet:48918|SCTID:240119009|ICD9:729.1	mondo.json	inflammatory pseudotumor of skeletal muscle|focal nodular myositis	http://purl.obolibrary.org/obo/MONDO_0018845	http://identifiers.org/snomedct/240119009|Orphanet:48918	ordo_disease
UBERON:0001070	biolink:AnatomicalEntity	external carotid artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001070		
MONDO:0018840	biolink:Disease	isolated congenital hepatic fibrosis	A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts.	Orphanet:485426|MESH:C562378|UMLS:C0009714|NCIT:C97071|ICD9:777.8|SCTID:79607001|GARD:0006168	mondo.json	congenital hepatic fibrosis|nonsyndromic congenital hepatic fibrosis|isolated CHF|congenital fibrose liver	http://purl.obolibrary.org/obo/MONDO_0018840	Orphanet:485426|UMLS:C0009714|http://identifiers.org/snomedct/79607001|NCIT:C97071|http://identifiers.org/mesh/C562378	gard_rare|ordo_disease
MONDO:0018842	biolink:Disease	primary effusion lymphoma	Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8).	ICDO:9678/3|MedDRA:10065857|GARD:0009247|Orphanet:48686|MESH:D054685|NCIT:C6915|SCTID:713516007|ICD9:202.80|ONCOTREE:PEL|EFO:1000491|UMLS:C1292753	mondo.json	primary Effusion Lymphoma|AIDS-related lymphoma|body cavity-based lymphoma|PEL	http://purl.obolibrary.org/obo/MONDO_0018842	NCIT:C6915|Orphanet:48686|http://identifiers.org/snomedct/713516007|http://identifiers.org/mesh/D054685|UMLS:C1292753	gard_rare|ordo_disease
MONDO:0018841	biolink:Disease	congenital bile acid synthesis defect		UMLS:CN239183|Orphanet:485631|DOID:0050674|EFO:0009039|OMIMPS:607765	mondo.json	cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency|BASD|CBA|bile acid synthesis defect, congenital	http://purl.obolibrary.org/obo/MONDO_0018841	Orphanet:485631|UMLS:CN239183|https://omim.org/phenotypicSeries/PS607765|DOID:0050674	disease_grouping|ordo_group_of_disorders
UBERON:0001077	biolink:AnatomicalEntity	transverse process of vertebra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001077		
UBERON:0001076	biolink:AnatomicalEntity	neural spine			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001076		
MONDO:0004207	biolink:Disease	pulmonary artery leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the pulmonary artery It is characterized by a proliferation of neoplastic spindle cells.	DOID:7389|NCIT:C5373|UMLS:C1335572	mondo.json	leiomyosarcoma of the pulmonary artery|leiomyosarcoma of pulmonary artery|pulmonary artery leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0004207	NCIT:C5373|UMLS:C1335572|DOID:7389	
MONDO:0004206	biolink:Disease	pulmonary vein leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the pulmonary vein. It is characterized by a proliferation of neoplastic spindle cells.	DOID:7388|NCIT:C5374|UMLS:C1335575	mondo.json	leiomyosarcoma of pulmonary vein|pulmonary vein leiomyosarcoma|leiomyosarcoma of the pulmonary vein	http://purl.obolibrary.org/obo/MONDO_0004206	NCIT:C5374|UMLS:C1335575|DOID:7388	
MONDO:0004209	biolink:Disease	cerebral primitive neuroectodermal tumor	A central nervous system embryonal tumor, not otherwise specified arising from the cerebral hemispheres.	DOID:7398|UMLS:C0751675|NCIT:C4970	mondo.json	cerebral primitive neuroectodermal tumor|cerebral hemisphere primitive neuroectodermal neoplasm|cerebral PNET|primitive neuroectodermal neoplasm of cerebrum|PNET of cerebrum|primitive neuroectodermal neoplasm of cerebral hemispheres|primitive neuroectodermal neoplasm of the cerebral hemispheres|primitive neuroectodermal neoplasm of the cerebrum|cerebral hemisphere PNET|primitive neuroectodermal tumor of cerebral hemispheres|cerebral hemisphere primitive neuroectodermal tumor|primitive neuroectodermal tumor of cerebrum|primitive neuroectodermal tumor of the cerebrum|primitive neuroectodermal tumor of the cerebral hemispheres|cerebral primitive neuroectodermal neoplasm|PNET of cerebral hemispheres|PNET of the cerebrum|PNET of the cerebral hemispheres	http://purl.obolibrary.org/obo/MONDO_0004209	DOID:7398|NCIT:C4970|UMLS:C0751675	
MONDO:0006868	biolink:Disease	neurogenic bowel	Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body.	EFO:1001061|MedDRA:10048657|UMLS:C0695242|ICD9:564.81|MESH:D055496|DOID:13419|SCTID:425671009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006868	UMLS:C0695242|http://identifiers.org/mesh/D055496|http://identifiers.org/snomedct/425671009|DOID:13419	
MONDO:0006869	biolink:Disease	nodular goiter	Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones.	EFO:1001062|MESH:D006044|UMLS:C0018023|HP:0005994|DOID:13197|SCTID:419153005|MedDRA:10018495|NCIT:C131437	mondo.json	nodular goitre|goiter, nodular|nodular goiter|nodular goiter (disease)	http://purl.obolibrary.org/obo/MONDO_0006869	http://identifiers.org/snomedct/419153005|DOID:13197|http://identifiers.org/mesh/D006044|NCIT:C131437|UMLS:C0018023	
MONDO:0004208	biolink:Disease	superior vena cava leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the superior vena cava. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C6745|UMLS:C1336531|DOID:7390	mondo.json	leiomyosarcoma of Superior vena cava|leiomyosarcoma of anterior vena cava|leiomyosarcoma of the Superior vena cava|anterior vena cava leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0004208	NCIT:C6745|UMLS:C1336531|DOID:7390	
MONDO:0006866	biolink:Disease	neonatal myasthenia gravis	A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)	SCTID:82178003|EFO:1001059|MESH:D020941|ICD9:775.2|MedDRA:10028963|DOID:14043	mondo.json	neonatal myasthenia gravis	http://purl.obolibrary.org/obo/MONDO_0006866	http://identifiers.org/mesh/D020941|http://identifiers.org/snomedct/82178003|DOID:14043	
MONDO:0004203	biolink:Disease	female urethral cancer	A cancer that involves the female urethra.	DOID:738|UMLS:C1517154|NCIT:C39866	mondo.json	cancer of female urethra|malignant female urethra neoplasm|malignant neoplasm of female urethra|female urethra cancer|female urethral malignant neoplasm	http://purl.obolibrary.org/obo/MONDO_0004203	UMLS:C1517154|NCIT:C39866|DOID:738	
MONDO:0004202	biolink:Disease	adrenal medulla carcinoma	A carcinoma that arises from epithelial cells of the adrenal medulla	UMLS:C1334717|NCIT:C9276|DOID:7379	mondo.json	carcinoma of adrenal medulla|adrenal medulla carcinoma	http://purl.obolibrary.org/obo/MONDO_0004202	DOID:7379	
MONDO:0006867	biolink:Disease	obsolete neovascular glaucoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006867		
MONDO:0004205	biolink:Disease	lymphohistiocytoid mesothelioma		UMLS:C1334464|DOID:7381|NCIT:C27779	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004205	NCIT:C27779|UMLS:C1334464|DOID:7381	
MONDO:0006864	biolink:Disease	necrotizing sialometaplasia	A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma.	SCTID:109769000|DOID:12901|MedDRA:10072176|UMLS:C0037033|EFO:1001057|ICD9:527.8|MESH:D012797	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006864	UMLS:C0037033|http://identifiers.org/mesh/D012797|http://identifiers.org/snomedct/109769000|DOID:12901	
MONDO:0006865	biolink:Disease	necrotizing ulcerative gingivitis	A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins.	MESH:D005892|DOID:13924|SCTID:186963008|NCIT:C34637|UMLS:C0017575|GARD:0005736|EFO:1001058|ICD9:101	mondo.json	ANUG|Vincent's angina|Vincent's disease|Vincent's infection|acute necrotizing ulcerative gingivitis|acute necrotising ulcerative gingivostomatitis|early acute necrotising gingivitis|Vincent's gingivitis|phagedenic gingivitis|Fusospirillary gingivitis|acute necrotising ulcerative gingivostomatitis [ambiguous]|trench mouth|acute necrotising ulcerative gingivitis|Vincent's infection, any site|Vincent's stomatitis|angina - Vincents|acute necrotizing ulcerative gingivostomatitis|acute ulceromembranous gingivitis|Vincent angina|Fusospirillosis|acute membranous gingivitis|acute necrotising ulcerative gingivitis [ambiguous]|Vincent's angina - pharyngitis	http://purl.obolibrary.org/obo/MONDO_0006865	UMLS:C0017575|http://identifiers.org/mesh/D005892|http://identifiers.org/snomedct/186963008|NCIT:C34637|DOID:13924	gard_rare
MONDO:0004204	biolink:Disease	squamous cell skin papilloma	A squamous papilloma that involves the zone of skin.	NCIT:C4462|SCTID:254661000|DOID:7380|UMLS:C0345983	mondo.json	parakeratotic skin papilloma|hyperkeratotic papilloma of skin|hyperkeratotic papilloma of the skin|Dyskeratotic papilloma of skin|Dyskeratotic papilloma of the skin|Dyskeratotic skin papilloma|parakeratotic papilloma of skin|parakeratotic papilloma of the skin|hyperkeratotic skin papilloma|zone of skin squamous papilloma|squamous cell papilloma of skin|squamous cell papilloma of the skin|squamous cell skin papilloma	http://purl.obolibrary.org/obo/MONDO_0004204	http://identifiers.org/snomedct/254661000|NCIT:C4462|DOID:7380|UMLS:C0345983	
MONDO:0006862	biolink:Disease	myofascial pain syndrome	Muscular pain in numerous body regions that can be reproduced by pressure on trigger points, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the temporomandibular joint dysfunction syndrome.	UMLS:C0027073|SCTID:24693007|MESH:D009209|EFO:1001054|MedDRA:10048780|ICD9:729.1|DOID:431	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006862	http://identifiers.org/snomedct/24693007|UMLS:C0027073|http://identifiers.org/mesh/D009209|DOID:431	
MONDO:0006863	biolink:Disease	myxosarcoma	An infiltrating malignant soft tissue neoplasm characterized by the presence of immature undifferentiated cells and abundant myxoid stroma formation.	MESH:D009236|DOID:4136|ICDO:8840/3|EFO:1001056|NCIT:C3255|UMLS:C0027155	mondo.json	myxosarcoma, malignant|myxosarcoma (morphologic abnormality)|myxosarcoma	http://purl.obolibrary.org/obo/MONDO_0006863	NCIT:C3255|UMLS:C0027155|http://identifiers.org/mesh/D009236|DOID:4136	
MONDO:0004201	biolink:Disease	pituitary hypoplasia	Incomplete development of the pituitary gland.	NCIT:C27343|DOID:7378|UMLS:C0948740	mondo.json	pituitary hypoplasia|pituitary gland hypoplasia	http://purl.obolibrary.org/obo/MONDO_0004201	DOID:7378|UMLS:C0948740|NCIT:C27343	
MONDO:0006860	biolink:Disease	obsolete mucoepidermoid tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006860		
MONDO:0006861	biolink:Disease	myeloid sarcoma	A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001)	ONCOTREE:MS|GARD:0012763|ICD9:205.3|ICDO:9930/3|MedDRA:10028562|NCIT:C3520|ICD10CM:C92.3|Orphanet:86850|EFO:1001052|MESH:D023981|DOID:8683	mondo.json	sarcoma, myeloid, malignant|granulocytic sarcoma|MS|chloroma|myeloid sarcoma|extramedullary myeloid tumor	http://purl.obolibrary.org/obo/MONDO_0006861	DOID:8683|NCIT:C3520|Orphanet:86850|http://purl.bioontology.org/ontology/ICD10CM/C92.3|http://identifiers.org/mesh/D023981	ordo_disease
MONDO:0004200	biolink:Disease	superficial urinary bladder carcinoma	A term used by urologists to describe an infiltrating carcinoma of the bladder that has not invaded into the muscularis propria of the bladder wall regardless of histologic type or grade.	NCIT:C27474|SCTID:425231005|DOID:7371|UMLS:C1336527	mondo.json	superficial urinary bladder carcinoma|superficial bladder carcinoma|superficial bladder cancer|superficial urinary bladder cancer	http://purl.obolibrary.org/obo/MONDO_0004200	DOID:7371|NCIT:C27474|http://identifiers.org/snomedct/425231005|UMLS:C1336527	
MONDO:0018829	biolink:Disease	familial schizencephaly	An instance of schizencephaly that is caused by an inherited modification of the individual's genome.	MESH:C538514|UMLS:C2931870|Orphanet:481986|UMLS:CN776926|GARD:0000166	mondo.json	hereditary schizencephaly|familial schizencephaly	http://purl.obolibrary.org/obo/MONDO_0018829	Orphanet:481986|UMLS:CN776926|UMLS:C2931870|http://identifiers.org/mesh/C538514	ordo_etiological_subtype
UBERON:0001062	biolink:AnatomicalEntity	anatomical entity	Biological entity that is either an individual member of a biological species or constitutes the structural organization of an individual member of a biological species.		mondo.json		http://purl.obolibrary.org/obo/UBERON_0001062		
MONDO:0018837	biolink:Disease	postinfectious vasculitis	Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses.	Orphanet:48435|UMLS:C4510302|SCTID:724063005	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018837	Orphanet:48435|UMLS:C4510302|http://identifiers.org/snomedct/724063005	ordo_disease
MONDO:0018836	biolink:Disease	obsolete subcorneal pustular dermatosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018836		
MONDO:0018839	biolink:Disease	acquired schizencephaly	An instance of schizencephaly that is acquired during the lifetime of the individual.	Orphanet:485275|UMLS:CN776925	mondo.json	acquired schizencephaly	http://purl.obolibrary.org/obo/MONDO_0018839	UMLS:CN776925|Orphanet:485275	ordo_etiological_subtype
UBERON:0001064	biolink:AnatomicalEntity	ventral pancreatic duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001064		
MONDO:0018838	biolink:Disease	lissencephaly spectrum disorders	The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis.	DOID:0050453|MESH:D054082|SCTID:204036008|NCIT:C103921|OMIMPS:607432|GARD:0012291|UMLS:C0266463|GARD:0007300|MedDRA:10048911|Orphanet:48471|HP:0001339	mondo.json	Broad gyri of cerebrum|macrogyria|lissencephaly|lissencephaly spectrum disorders|pachygyria|large gyri of cerebrum|lissencephaly (disease)	http://purl.obolibrary.org/obo/MONDO_0018838	NCIT:C103921|http://identifiers.org/snomedct/204036008|Orphanet:48471|https://omim.org/phenotypicSeries/PS607432|UMLS:C0266463|http://identifiers.org/mesh/D054082|DOID:0050453	disease_grouping|ordo_group_of_disorders
MONDO:0018833	biolink:Disease	obsolete rare idiopathic macular telangiectasia		Orphanet:482092|UMLS:CN776863	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018833	UMLS:CN776863|Orphanet:482092	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0018832	biolink:Disease	HTRA1-related autosomal dominant cerebral small vessel disease		UMLS:CN776823|Orphanet:482077	mondo.json	HTRA1-related autosomal dominant cerebral angiopathy	http://purl.obolibrary.org/obo/MONDO_0018832	UMLS:CN776823|Orphanet:482077	ordo_disease
HGNC:16700	biolink:NamedThing	ZFPM2			mondo.json		http://identifiers.org/hgnc/16700		
MONDO:0018835	biolink:Disease	nodular regenerative hyperplasia of the liver	Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins.	UMLS:CN205145|ICD9:573.8|SCTID:715140008|Orphanet:48372|GARD:0010929	mondo.json	nodular regenerative hyperplasia|non-cirrhotic nodular transformation|non-cirrhotic portal hypertension|non-cirrhotic nodulation|miliary hepatocellular adenomatosis	http://purl.obolibrary.org/obo/MONDO_0018835	UMLS:CN205145|Orphanet:48372|http://identifiers.org/snomedct/715140008	ordo_disease
MONDO:0018834	biolink:Disease	adenylosuccinate synthetase-like 1-related distal myopathy		Orphanet:482601	mondo.json	ADSSL1-related distal myopathy	http://purl.obolibrary.org/obo/MONDO_0018834	Orphanet:482601	ordo_disease
MONDO:0018831	biolink:Disease	HTRA1-related cerebral small vessel disease		Orphanet:482072|UMLS:CN776824	mondo.json	HTRA1-related cerebral angiopathy	http://purl.obolibrary.org/obo/MONDO_0018831	UMLS:CN776824|Orphanet:482072	ordo_group_of_disorders|disease_grouping
MONDO:0018830	biolink:Disease	Kimura disease	Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease.	MESH:D000082242|Wikipedia:Kimura's_disease|EFO:1000722|UMLS:C0033838|DOID:7365|NCIT:C26867|Orphanet:482|MESH:D000796|GARD:0006835|MedDRA:10048640	mondo.json	eosinophilic lymphogranuloma|angiolymphoid hyperplasia with eosinophilia|eosinophilic lymphofollicular granuloma|eosinophilic hyperplastic lymphogranuloma|eosinophilic lymphofolliculosis|eosinophilic granuloma of soft tissue|Kimura's disease	http://purl.obolibrary.org/obo/MONDO_0018830	NCIT:C26867|UMLS:C0033838|DOID:7365|Orphanet:482|http://identifiers.org/mesh/D000796|http://identifiers.org/mesh/D000082242	gard_rare|ordo_disease
UBERON:0001066	biolink:AnatomicalEntity	intervertebral disk			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001066		
UBERON:0001068	biolink:AnatomicalEntity	skin of back			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001068		
MONDO:0006837	biolink:Disease	low tension glaucoma	A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure.	EFO:1001022|DOID:13544|MESH:D057066|UMLS:C0152136|MedDRA:10024931|ICD9:365.12|SCTID:50485007	mondo.json	tension Glaucomas, normal|Glaucomas, normal tension|glaucoma, normal tension|tension Glaucomas, Low|normal tension Glaucomas|tension glaucoma, normal|low tension Glaucomas|normal tension glaucoma|tension glaucoma, Low|glaucoma, Low tension|Glaucomas, Low tension	http://purl.obolibrary.org/obo/MONDO_0006837	DOID:13544|UMLS:C0152136|http://identifiers.org/mesh/D057066|http://identifiers.org/snomedct/50485007	
MONDO:0006838	biolink:Disease	lupus vulgaris	A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the nasal mucosa; buccal mucosa; and conjunctival mucosa.	MESH:D008177|EFO:1001023|UMLS:C0024131|MedDRA:10025143|SCTID:10528009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006838	UMLS:C0024131|http://identifiers.org/snomedct/10528009|http://identifiers.org/mesh/D008177	
MONDO:0006835	biolink:Disease	lipoid nephrosis	A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome.	EFO:1001020|NCIT:C34844|SCTID:44785005|UMLS:C0027721|GARD:0009147|MedDRA:10058325|DOID:10966|MESH:D009402	mondo.json	minimal change disease|minimal change glomerulopathy|nephrotic syndrome with lesion of minimal change nephrotic syndrome|lipoid nephrosis|MCNS|minimal change nephropathy|minimal change glomerulonephritis|nil disease|minimal change nephrotic syndrome|idiopathic minimal change nephrotic syndrome|nephrotic syndrome with lesion of minimal change glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0006835	NCIT:C34844|DOID:10966|UMLS:C0027721|http://identifiers.org/mesh/D009402|http://identifiers.org/snomedct/44785005	
MONDO:0006836	biolink:Disease	Listeria meningitis	Inflammation of the meninges caused by listeria monocytogenes infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with immunologic deficiency syndromes. Clinical manifestations include fever, altered mentation, headache, meningeal signs, focal neurologic signs, and seizures. (From Medicine 1998 Sep;77(5):313-36)	EFO:1001021|DOID:11572|UMLS:C0025293|MESH:D008584|ICD9:320.7|SCTID:31568009	mondo.json	meningitis, Listeria monocytogenes|cerebritis, Listeria|Meningitides, Listeria monocytogenes|Cerebritides, Listeria|Listeria Meningitides|meningoencephalitis, Listeria|Meningoencephalitides, Listeria|Listeria monocytogenes caused infectious meningitis|Listeria meningoencephalitis|Listeria monocytogenes infectious meningitis|Listeria Meningoencephalitides|Listeria cerebritis|Meningitides, Listeria|Listeria Cerebritides|Listeria monocytogenes meningitis|Listeria monocytogenes Meningitides|Listeria meningitis	http://purl.obolibrary.org/obo/MONDO_0006836	http://identifiers.org/mesh/D008584|DOID:11572|http://identifiers.org/snomedct/31568009|UMLS:C0025293	
MONDO:0006833	biolink:Disease	lingual goiter	Pathological enlargement of the lingual thyroid, ectopic thyroid tissue at the base of the tongue. It may cause upper airway obstruction; dysphagia; or hypothyroidism symptoms.	DOID:13196|SCTID:75667007|MESH:D047268|ICD9:759.2|EFO:1001018|UMLS:C0271760	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006833	http://identifiers.org/mesh/D047268|http://identifiers.org/snomedct/75667007|UMLS:C0271760|DOID:13196	
MONDO:0006834	biolink:Disease	lip cancer	A primary or metastatic malignant neoplasm involving the lip.	ICD9:140.6|NCIT:C7485|ICD9:140.5|EFO:1001019|ICD10CM:C00|DOID:8564|ICD9:140|MedDRA:10007089|MESH:D008048|ICD9:140.8|SCTID:187622006	mondo.json	malignant lip neoplasm|malignant tumour of labial commissure|malignant neoplasm of lower lip, inner aspect|malignant neoplasm of lower lip, mucosa|malignant tumour of lip|malignant neoplasm of vermilion border of lip|malignant neoplasm of lip|malignant tumor of Lip|malignant neoplasm of lip, inner aspect|malignant tumor of commissure of lip|malignant neoplasm of lip, unspecified, inner aspect|malignant neoplasm of lip, vermilion border|malignant neoplasm of labial commissure of lip|malignant neoplasm of lip, unspecified, vermilion border|malignant tumor of lower labial mucosa|malignant tumor of labial mucosa|malignant neoplasm of lower lip, buccal aspect|malignant neoplasm of lower lip, oral aspect|malignant neoplasm of lip, unspecified|malignant Lip neoplasm|malignant neoplasm of lip, external|malignant tumor of the Lip|malignant neoplasm of external Lip, not specified as upper or lower|cancer of lip|malignant neoplasm of oral aspect of lip, not specified whether upper or lower|malignant neoplasm of other sites of lip|malignant neoplasm of the Lip|malignant neoplasm of commissure of lip|lip cancer|malignant neoplasm of Lip|malignant Lip tumor	http://purl.obolibrary.org/obo/MONDO_0006834	NCIT:C7485|http://identifiers.org/snomedct/187622006|DOID:8564|http://identifiers.org/mesh/D008048|http://purl.bioontology.org/ontology/ICD10CM/C00	
MONDO:0006831	biolink:Disease	leukostasis	A disorder involving the aberrant infiltration and aggregation of leukocytes into the vasculature of the body. Leukostasis is typically detected in the brain and lungs of persons with leukemia. It requires substantial ablative modalities to both reduce the number of cells present and to ensure dispersion of the aggregates.	DOID:12986|EFO:1001016|UMLS:C0282548|MedDRA:10024404|MESH:D018921	mondo.json	leukostasis (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0006831	DOID:12986|http://identifiers.org/mesh/D018921|UMLS:C0282548	
MONDO:0006832	biolink:Disease	obsolete limited scleroderma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006832		
MONDO:0006830	biolink:Disease	leukoplakia of penis	A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene.	DOID:8738|ICD9:607.0|MedDRA:10024394|SCTID:3323003|NCIT:C3151|EFO:1001015|UMLS:C0022782|ICD10CM:N48.0	mondo.json	leukoplakia of the penis|kraurosis penis|penile leukoplakia|kraurosis of penis	http://purl.obolibrary.org/obo/MONDO_0006830	UMLS:C0022782|NCIT:C3151|http://identifiers.org/snomedct/3323003|DOID:8738|http://purl.bioontology.org/ontology/ICD10CM/N48.0	
MONDO:0018819	biolink:Disease	obsolete fibular aplasia-tibial campomelia-oligosyndactyly syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018819		
MONDO:0018818	biolink:Disease	facial diplegia with paresthesias		Orphanet:480701|UMLS:CN776915	mondo.json	facial diplegia with paresthesias variant of Guillain-BarrC) syndrome|facial diplegia with paresthesias variant of Guillain-Barré syndrome|facial diplegia with paresthesias variant of GBS	http://purl.obolibrary.org/obo/MONDO_0018818	Orphanet:480701|UMLS:CN776915	ordo_disease
MONDO:0018826	biolink:Disease	Lewis-Sumner syndrome	A rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy.	MedDRA:10065580|UMLS:C1695985|GARD:0013070|Orphanet:48162	mondo.json	MADSAM|multifocal acquired demyelinating sensory and motor neuropathy	http://purl.obolibrary.org/obo/MONDO_0018826	Orphanet:48162|UMLS:C1695985	gard_rare|ordo_clinical_subtype
UBERON:0001051	biolink:AnatomicalEntity	hypopharynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001051		
MONDO:0018825	biolink:Disease	PYCR2-related microcephaly-progressive leukoencephalopathy	PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.	Orphanet:481152	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018825	Orphanet:481152	ordo_malformation_syndrome
MONDO:0018828	biolink:Disease	pseudo-TORCH syndrome 2		OMIM:617397|Orphanet:481665|UMLS:C4479376	mondo.json	pseudo-TORCH syndrome 2|PTORCH2|USP18 deficiency	http://purl.obolibrary.org/obo/MONDO_0018828	Orphanet:481665|UMLS:C4479376|https://omim.org/entry/617397	ordo_disease
UBERON:0001052	biolink:AnatomicalEntity	rectum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001052		
MONDO:0018827	biolink:Disease	familial chilblain lupus	An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome.	UMLS:CN776917|OMIMPS:610448|Orphanet:481662	mondo.json	hereditary Chilblain lupus|hereditary chilblain lupus	http://purl.obolibrary.org/obo/MONDO_0018827	Orphanet:481662|UMLS:CN776917|https://omim.org/phenotypicSeries/PS610448	ordo_disease
MONDO:0018822	biolink:Disease	global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).	Orphanet:480898|UMLS:CN776946	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018822	Orphanet:480898|UMLS:CN776946	ordo_disease
MONDO:0018821	biolink:Disease	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		UMLS:CN776923|Orphanet:480880	mondo.json	X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females|X-linked facial dysmorphism-short stature-choanal atrsia-intellectual disability syndrome limited to females	http://purl.obolibrary.org/obo/MONDO_0018821	Orphanet:480880|UMLS:CN776923	ordo_malformation_syndrome
MONDO:0018824	biolink:Disease	pyoderma gangrenosum	Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate.	SCTID:74578003|MESH:D017511|ICD10CM:L88|GARD:0007510|DOID:8553|Orphanet:48104|UMLS:C0085652|EFO:0006835|MedDRA:10037635|ICD9:686.01	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018824	http://identifiers.org/snomedct/74578003|http://purl.bioontology.org/ontology/ICD10CM/L88|Orphanet:48104|http://identifiers.org/mesh/D017511|DOID:8553|UMLS:C0085652	ordo_disease|gard_rare
MONDO:0018823	biolink:Disease	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome		UMLS:CN776924|Orphanet:480907	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018823	Orphanet:480907|UMLS:CN776924	ordo_malformation_syndrome
MONDO:0018820	biolink:Disease	recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.	Orphanet:480864|UMLS:C4225171|UMLS:CN776869|GARD:0013423|OMIM:616878	mondo.json	TANGO2 deficiency|metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration|MECRCN|transport and golgi organization protein 2 (TANGO2) deficiency	http://purl.obolibrary.org/obo/MONDO_0018820	Orphanet:480864|UMLS:CN776869|UMLS:C4225171|https://omim.org/entry/616878	ordo_disease
NCBITaxon:70426	biolink:OrganismalEntity	Oxyuridomorpha		GC_ID:1	mondo.json	Oxyurida	http://purl.obolibrary.org/obo/NCBITaxon_70426		
MONDO:0006828	biolink:Disease	nasal cavity and paranasal sinus lethal midline granuloma	An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma.	NCIT:C8196|ICD9:446.3|EFO:1001013|MedDRA:10024255|ICD10CM:M31.2|MESH:D006103|DOID:9072	mondo.json	Midline lethal granuloma of nasal cavity and paranasal sinus|lethal midline granuloma|midfacial Necrotising lesion|Midline lethal granuloma of the nasal cavity and paranasal sinus|nasal cavity and paranasal sinus lethal Midline granuloma|malignant granuloma of face	http://purl.obolibrary.org/obo/MONDO_0006828	NCIT:C8196|http://identifiers.org/mesh/D006103|DOID:9072|http://purl.bioontology.org/ontology/ICD10CM/M31.2	
MONDO:0006829	biolink:Disease	leukemoid reaction	A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear.	EFO:1001014|ICD10CM:D72.823|SCTID:56478004|MedDRA:10024373|MESH:D007955|UMLS:C0023501|ICD9:288.8|ICD9:288.62	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006829	UMLS:C0023501|http://identifiers.org/mesh/D007955|http://identifiers.org/snomedct/56478004|http://purl.bioontology.org/ontology/ICD10CM/D72.823	
MONDO:0006848	biolink:Disease	marasmus	The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses.	EFO:1001033|UMLS:C0086588|ICD10CM:E41|ICD9:261|SCTID:29740003|DOID:12328|MedDRA:10026820	mondo.json	nutritional marasmus|nutritional atrophy	http://purl.obolibrary.org/obo/MONDO_0006848	http://identifiers.org/snomedct/29740003|DOID:12328|UMLS:C0086588|http://purl.bioontology.org/ontology/ICD10CM/E41	
MONDO:0006849	biolink:Disease	mastitis	Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection. Mastitis can also occur in non-breastfeeding women, and rarely in men.	MedDRA:10026883|SCTID:45198002|DOID:10690|NCIT:C53662|UMLS:C0024894|MESH:D008413|EFO:1001034|UMLS:C0392317	mondo.json	inflammatory disease of breast|breast infection|inflammation of breast|breast inflammation|inflammatory breast disease	http://purl.obolibrary.org/obo/MONDO_0006849	UMLS:C0024894|DOID:10690|http://identifiers.org/snomedct/45198002|UMLS:C0392317|NCIT:C53662|http://identifiers.org/mesh/D008413	
MONDO:0006846	biolink:Disease	malignant hypertension	Severe hypertension that is characterized by rapid onset of extremely high blood pressure.	UMLS:C0020540|EFO:1001031|SCTID:70272006|MedDRA:10025600|DOID:10824|MESH:D006974|UMLS:C0745136	mondo.json	accelerated-malignant hypertension|MHT|malignant phase hypertension|hypertensive emergency	http://purl.obolibrary.org/obo/MONDO_0006846	UMLS:C0745136|http://identifiers.org/mesh/D006974|http://identifiers.org/snomedct/70272006|DOID:10824|UMLS:C0020540	
MONDO:0006847	biolink:Disease	malignant lymphatic vessel tumor	Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels.	EFO:1001032	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006847		
MONDO:0006844	biolink:Disease	magnesium deficiency	A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)	SCTID:238118002|MedDRA:10025433|EFO:1001029|MESH:D008275|ICD10CM:E61.2|UMLS:C0024473	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006844	http://identifiers.org/snomedct/238118002|http://identifiers.org/mesh/D008275|http://purl.bioontology.org/ontology/ICD10CM/E61.2|UMLS:C0024473	
MONDO:0006845	biolink:Disease	male genital tuberculosis	Mycobacterium infections of the male reproductive tract (genitalia, male).	EFO:1001030|MedDRA:10061234|MESH:D014389|UMLS:C0041317|SCTID:240379005	mondo.json	Tuberculoses, Male genital|genital tuberculosis, Male|male genital tuberculosis|Male genital Tuberculoses|genital Tuberculoses, Male|male reproductive system tuberculosis	http://purl.obolibrary.org/obo/MONDO_0006845	http://identifiers.org/mesh/D014389|UMLS:C0041317|http://identifiers.org/snomedct/240379005	
HP:0500165	biolink:PhenotypicFeature	Abnormal blood oxygen level	An abnormality of the partial pressure of oxygen in the arterial blood.		mondo.json	Abnormal O2 blood concentration|Abnormal blood oxygen levels|Abnormal blood O2 level	http://purl.obolibrary.org/obo/HP_0500165		
MONDO:0006842	biolink:Disease	lymphangiomyoma	A neoplasm with perivascular epithelioid cell differentiation, often associated with tuberous sclerosis. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lymph nodes, lung, mediastinum, and retroperitoneum.	MESH:D008203|UMLS:C0024223|EFO:1001027|ICDO:9174/0|NCIT:C3204	mondo.json	lymphangioleiomyoma|lymphangiomyoma	http://purl.obolibrary.org/obo/MONDO_0006842	NCIT:C3204|http://identifiers.org/mesh/D008203|UMLS:C0024223	
MONDO:0006843	biolink:Disease	macular holes	A hole in the macula of the retina.	UMLS:C0024441|DOID:7633|NCIT:C34795|MESH:D012167|EFO:1001028|SCTID:232006002	mondo.json	macular hole	http://purl.obolibrary.org/obo/MONDO_0006843	DOID:7633|http://identifiers.org/snomedct/232006002|NCIT:C34795|UMLS:C0024441	
MONDO:0006840	biolink:Disease	lymphangiectasis	Dilatation of the lymphatic vessels.	MESH:D008200|NCIT:C97087|EFO:1001025|GARD:0006933|UMLS:C0024214	mondo.json	lymphangiectasia	http://purl.obolibrary.org/obo/MONDO_0006840	http://identifiers.org/mesh/D008200|UMLS:C0024214|NCIT:C97087	gard_rare
MONDO:0006841	biolink:Disease	lymphangioendothelioma	A lymphangioma characterized by the presence of collagen bundle formation. It has an indolent clinical course and may be associated with skin plaques.	NCIT:C3203|SCTID:403975006|EFO:1001026	mondo.json	acquired progressive lymphangioma	http://purl.obolibrary.org/obo/MONDO_0006841	NCIT:C3203|http://identifiers.org/snomedct/403975006	
MONDO:0018808	biolink:Disease	Caroli syndrome		UMLS:CN776859|Orphanet:480520	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018808	Orphanet:480520|UMLS:CN776859	ordo_malformation_syndrome
MONDO:0018807	biolink:Disease	idiopathic ductopenia		Orphanet:480512|UMLS:CN244899	mondo.json	IAD|idiopathic adult ductopenia	http://purl.obolibrary.org/obo/MONDO_0018807	UMLS:CN244899|Orphanet:480512	ordo_disease
MONDO:0018809	biolink:Disease	idiopathic peliosis hepatis		Orphanet:480524	mondo.json	idiopathic peliosis hepatitis	http://purl.obolibrary.org/obo/MONDO_0018809	Orphanet:480524	ordo_disease
MONDO:0018815	biolink:Disease	aneurysmal bone cyst	A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage.	SCTID:203468000|GARD:0008646|NCIT:C3516|OMIM:606179|ICD9:733.22|MESH:D017824|Orphanet:480553|HP:0012063	mondo.json	aneurysmal cyst of bone|ABC|aneurysmal cyst of the bone|aneurysmal bone cysts|aneurysmal bone cyst|aneurysmal bone cyst (disease)	http://purl.obolibrary.org/obo/MONDO_0018815	Orphanet:480553|http://identifiers.org/snomedct/203468000|http://identifiers.org/mesh/D017824|https://omim.org/entry/606179|NCIT:C3516	ordo_disease|gard_rare
UBERON:0001040	biolink:AnatomicalEntity	yolk sac			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001040		
MONDO:0018814	biolink:Disease	non-SCID combined immunodeficiency		Orphanet:480549	mondo.json	non-SCID|non-severe combined immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0018814	Orphanet:480549	ordo_group_of_disorders|disease_grouping
MONDO:0018817	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0018817		
UBERON:0001042	biolink:AnatomicalEntity	chordate pharynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001042		
MONDO:0018816	biolink:Disease	isolated neonatal sclerosing cholangitis	Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease.	UMLS:C4479344|Orphanet:480556|OMIM:617394	mondo.json	NSC|sclerosing cholangitis, neonatal	http://purl.obolibrary.org/obo/MONDO_0018816	https://omim.org/entry/617394|Orphanet:480556|UMLS:C4479344	ordo_disease
UBERON:0001041	biolink:AnatomicalEntity	foregut			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001041		
MONDO:0018811	biolink:Disease	congenital portosystemic shunt	Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours.	Orphanet:480531	mondo.json	congenital portosystemic venous fistula	http://purl.obolibrary.org/obo/MONDO_0018811	Orphanet:480531	ordo_morphological_anomaly
MONDO:0018810	biolink:Disease	lethal hydranencephaly-diaphragmatic hernia syndrome	Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated.	Orphanet:480528|UMLS:CN776878	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018810	Orphanet:480528|UMLS:CN776878	ordo_malformation_syndrome
MONDO:0018813	biolink:Disease	high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement		Orphanet:480541	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018813	Orphanet:480541	ordo_disease
MONDO:0018812	biolink:Disease	MSH3-related attenuated familial adenomatous polyposis		Orphanet:480536|UMLS:CN776886	mondo.json	MSH3-related attenuated familial polyposis coli|MSH3-related AFAP|MSH3-related attenuated FAP|MSH3-related attenuated familial adenomatous polyposis	http://purl.obolibrary.org/obo/MONDO_0018812	Orphanet:480536|UMLS:CN776886	ordo_clinical_subtype
UBERON:0001048	biolink:AnatomicalEntity	primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001048		
UBERON:0001049	biolink:AnatomicalEntity	neural tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001049		
UBERON:0001044	biolink:AnatomicalEntity	saliva-secreting gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001044		
UBERON:0001043	biolink:AnatomicalEntity	esophagus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001043		
MONDO:0006839	biolink:Disease	Lutembacher syndrome	A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis.	EFO:1001024|DOID:1998|UMLS:C0024164|MESH:D008185|SCTID:204319006	mondo.json	syndrome, Lutembacher|syndrome, Lutembacher's|Lutembacher's anomaly|Lutembacher syndrome|Lutembacher's syndrome|Lutembachers syndrome	http://purl.obolibrary.org/obo/MONDO_0006839	UMLS:C0024164|http://identifiers.org/snomedct/204319006|DOID:1998|http://identifiers.org/mesh/D008185	
UBERON:0001046	biolink:AnatomicalEntity	hindgut			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001046		
UBERON:0001045	biolink:AnatomicalEntity	midgut			mondo.json		http://purl.obolibrary.org/obo/UBERON_0001045		
UBERON:0005908	biolink:AnatomicalEntity	conjunctival sac			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005908		
UBERON:0005906	biolink:AnatomicalEntity	serous sac			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005906		
UBERON:0005904	biolink:AnatomicalEntity	duct of male reproductive system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005904		
UBERON:0005903	biolink:AnatomicalEntity	duct of seminal vesicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005903		
UBERON:0005902	biolink:AnatomicalEntity	occipital region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005902		
UBERON:0005911	biolink:AnatomicalEntity	endo-epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005911		
NCBITaxon:1980418	biolink:OrganismalEntity	Phenuiviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1980418		
NCBITaxon:1980416	biolink:OrganismalEntity	Peribunyaviridae		GC_ID:1	mondo.json	Bunyaviridae	http://purl.obolibrary.org/obo/NCBITaxon_1980416		
NCBITaxon:1980410	biolink:OrganismalEntity	Bunyavirales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1980410		
NCBITaxon:1980415	biolink:OrganismalEntity	Nairoviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1980415		
NCBITaxon:1980413	biolink:OrganismalEntity	Hantaviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1980413		
NCBITaxon:92088	biolink:OrganismalEntity	Trombiculoidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_92088		
GO:0008544	biolink:NamedThing	epidermis development	The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species.		mondo.json	hypodermis development	http://purl.obolibrary.org/obo/GO_0008544		
NCBITaxon:466552	biolink:OrganismalEntity	Meleagridinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_466552		
UBERON:2001626	biolink:AnatomicalEntity	premaxillary tooth			mondo.json		http://purl.obolibrary.org/obo/UBERON_2001626		
GO:0033500	biolink:NamedThing	carbohydrate homeostasis	A homeostatic process involved in the maintenance of an internal steady state of a carbohydrate within an organism or cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0033500		
CHR:9606-chr21q22.11-q22.12	biolink:NamedThing	21q22.11-q22.12 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr21q22.11-q22.12		
HGNC:1802	biolink:NamedThing	CDSN			mondo.json		http://identifiers.org/hgnc/1802		
GO:0045541	biolink:NamedThing	negative regulation of cholesterol biosynthetic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol.		mondo.json	negative regulation of cholesterol anabolism|negative regulation of cholesterol synthesis|downregulation of cholesterol biosynthetic process|negative regulation of cholesterol formation|down regulation of cholesterol biosynthetic process|inhibition of cholesterol biosynthetic process|negative regulation of cholesterol biosynthesis|down-regulation of cholesterol biosynthetic process	http://purl.obolibrary.org/obo/GO_0045541		
HGNC:1809	biolink:NamedThing	CDY1			mondo.json		http://identifiers.org/hgnc/1809		
GO:0045542	biolink:NamedThing	positive regulation of cholesterol biosynthetic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol.		mondo.json	positive regulation of cholesterol biosynthesis|positive regulation of cholesterol synthesis|up regulation of cholesterol biosynthetic process|stimulation of cholesterol biosynthetic process|positive regulation of cholesterol formation|up-regulation of cholesterol biosynthetic process|activation of cholesterol biosynthetic process|upregulation of cholesterol biosynthetic process|positive regulation of cholesterol anabolism	http://purl.obolibrary.org/obo/GO_0045542		
GO:0045540	biolink:NamedThing	regulation of cholesterol biosynthetic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol.		mondo.json	regulation of cholesterol anabolism|regulation of cholesterol biosynthesis|regulation of cholesterol synthesis|regulation of cholesterol formation	http://purl.obolibrary.org/obo/GO_0045540		
NCBITaxon:1280412	biolink:OrganismalEntity	Conoidasida		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1280412		
GO:0008527	biolink:NamedThing	taste receptor activity	Combining with soluble compounds to initiate a change in cell activity. These receptors are responsible for the sense of taste.		mondo.json	gustatory receptor	http://purl.obolibrary.org/obo/GO_0008527		
HGNC:1810	biolink:NamedThing	CDY2A			mondo.json		http://identifiers.org/hgnc/1810		
UBERON:0005946	biolink:AnatomicalEntity	outflow tract of atrium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005946		
UBERON:0005956	biolink:AnatomicalEntity	outflow part of left ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005956		
CHEBI:71392	biolink:ChemicalSubstance	tetracycline(1-)	An organic anion that is the conjugate base of tetracycline obtained by deprotonation of the two enolic hydroxy groups and protonation of the tertiary amino group.		mondo.json	tetracycline anion|(1S,4aS,11S,11aS,12aS)-3-carbamoyl-1-(dimethylazaniumyl)-4a,7,11-trihydroxy-11-methyl-4,6-dioxo-1,4,4a,6,11,11a,12,12a-octahydrotetracene-2,5-diolate	http://purl.obolibrary.org/obo/CHEBI_71392		
UBERON:0005953	biolink:AnatomicalEntity	outflow part of right ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005953		
GO:0070507	biolink:NamedThing	regulation of microtubule cytoskeleton organization	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins.		mondo.json	regulation of microtubule dynamics|regulation of microtubule cytoskeleton organisation	http://purl.obolibrary.org/obo/GO_0070507		
NCBITaxon:1652081	biolink:OrganismalEntity	Poeae Chloroplast Group 2 (Poeae type)		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1652081		
UBERON:0005945	biolink:AnatomicalEntity	neurocranial trabecula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005945		
UBERON:0005944	biolink:AnatomicalEntity	axial skeleton plus cranial skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005944		
HGNC:1838	biolink:NamedThing	CECR			mondo.json		http://identifiers.org/hgnc/1838		
GO:0008509	biolink:NamedThing	anion transmembrane transporter activity	Enables the transfer of a negatively charged ion from one side of a membrane to the other.		mondo.json	anion transporter activity	http://purl.obolibrary.org/obo/GO_0008509		
HGNC:1839	biolink:NamedThing	ADA2			mondo.json		http://identifiers.org/hgnc/1839		
HGNC:1836	biolink:NamedThing	CEBPE			mondo.json		http://identifiers.org/hgnc/1836		
UBERON:0005928	biolink:AnatomicalEntity	external naris			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005928		
HGNC:1833	biolink:NamedThing	CEBPA			mondo.json		http://identifiers.org/hgnc/1833		
GO:0045578	biolink:NamedThing	negative regulation of B cell differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of B cell differentiation.		mondo.json	down regulation of B cell differentiation|inhibition of B cell differentiation|negative regulation of B cell development|down-regulation of B cell differentiation|negative regulation of B-cell differentiation|negative regulation of B lymphocyte differentiation|negative regulation of B-lymphocyte differentiation|downregulation of B cell differentiation	http://purl.obolibrary.org/obo/GO_0045578		
GO:0045579	biolink:NamedThing	positive regulation of B cell differentiation	Any process that activates or increases the frequency, rate or extent of B cell differentiation.		mondo.json	positive regulation of B-lymphocyte differentiation|upregulation of B cell differentiation|positive regulation of B cell development|stimulation of B cell differentiation|up regulation of B cell differentiation|positive regulation of B-cell differentiation|positive regulation of B lymphocyte differentiation|activation of B cell differentiation|up-regulation of B cell differentiation	http://purl.obolibrary.org/obo/GO_0045579		
GO:0045576	biolink:NamedThing	mast cell activation	The change in morphology and behavior of a mast cell resulting from exposure to a cytokine, chemokine, soluble factor, or to (at least in mammals) an antigen which the mast cell has specifically bound via IgE bound to Fc-epsilonRI receptors.		mondo.json		http://purl.obolibrary.org/obo/GO_0045576		
GO:0045577	biolink:NamedThing	regulation of B cell differentiation	Any process that modulates the frequency, rate or extent of B cell differentiation.		mondo.json	regulation of B-cell differentiation|regulation of B lymphocyte differentiation|regulation of B-lymphocyte differentiation|regulation of B cell development	http://purl.obolibrary.org/obo/GO_0045577		
MONDO:0041086	biolink:Disease	mixed anxiety and depressive disorder		SCTID:231504006	mondo.json	mixed anxiety and depressive disorder|anxiety depression	http://purl.obolibrary.org/obo/MONDO_0041086	http://identifiers.org/snomedct/231504006	
CHEBI:58315	biolink:ChemicalSubstance	L-tyrosine zwitterion	An amino acid zwitterion arising from transfer of a proton from the carboxy to the amino group of L-tyrosine; major species at pH 7.3.		mondo.json	L-tyrosine|(2S)-2-ammonio-3-(4-hydroxyphenyl)propanoate|(2S)-2-azaniumyl-3-(4-hydroxyphenyl)propanoate	http://purl.obolibrary.org/obo/CHEBI_58315		
GO:0045581	biolink:NamedThing	negative regulation of T cell differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of T cell differentiation.		mondo.json	inhibition of T cell differentiation|negative regulation of T cell development|down-regulation of T cell differentiation|negative regulation of T-cell differentiation|negative regulation of T lymphocyte differentiation|negative regulation of T-lymphocyte differentiation|downregulation of T cell differentiation|down regulation of T cell differentiation	http://purl.obolibrary.org/obo/GO_0045581		
GO:0045582	biolink:NamedThing	positive regulation of T cell differentiation	Any process that activates or increases the frequency, rate or extent of T cell differentiation.		mondo.json	upregulation of T cell differentiation|positive regulation of T cell development|up regulation of T cell differentiation|stimulation of T cell differentiation|positive regulation of T-cell differentiation|positive regulation of T lymphocyte differentiation|up-regulation of T cell differentiation|activation of T cell differentiation|positive regulation of T-lymphocyte differentiation	http://purl.obolibrary.org/obo/GO_0045582		
MONDO:0041093	biolink:Disease	central retinal vein occlusion with macular edema		SCTID:232039004	mondo.json	central retinal vein occlusion with macular edema	http://purl.obolibrary.org/obo/MONDO_0041093	http://identifiers.org/snomedct/232039004	
MONDO:0041095	biolink:Disease	malignant otitis externa caused by Pseudomonas aeruginosa	An malignant otitis externa caused by infection with Pseudomonas aeruginosa.	UMLS:C0395818|SCTID:232230009	mondo.json	malignant otitis externa caused by Pseudomonas aeruginosa|malignant otitis externa due to Pseudomonas aeruginosa|Pseudomonas aeruginosa caused malignant otitis externa|Pseudomonas aeruginosa malignant otitis externa	http://purl.obolibrary.org/obo/MONDO_0041095	UMLS:C0395818|http://identifiers.org/snomedct/232230009	
GO:0045580	biolink:NamedThing	regulation of T cell differentiation	Any process that modulates the frequency, rate or extent of T cell differentiation.		mondo.json	regulation of T-cell differentiation|regulation of T lymphocyte differentiation|regulation of T-lymphocyte differentiation|regulation of T cell development	http://purl.obolibrary.org/obo/GO_0045580		
HGNC:1848	biolink:NamedThing	CEL			mondo.json		http://identifiers.org/hgnc/1848		
GO:0008514	biolink:NamedThing	organic anion transmembrane transporter activity	Enables the transfer of organic anions from one side of a membrane to the other. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage.		mondo.json		http://purl.obolibrary.org/obo/GO_0008514		
UBERON:0005913	biolink:AnatomicalEntity	zone of bone organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005913		
MONDO:0016060	biolink:Disease	laryngotracheoesophageal cleft	A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus.	Orphanet:2004|MESH:C537875|GARD:0003188|NCIT:C98622|SCTID:232461002	mondo.json	congenital cleft larynx|laryngo-tracheo-esophageal diastema|laryngeal cleft|Larnygeotracheoesophageal cleft|laryngo-tracheo-esophageal cleft|tracheal cleft|LC|LTEC	http://purl.obolibrary.org/obo/MONDO_0016060	http://identifiers.org/snomedct/232461002|http://identifiers.org/mesh/C537875|NCIT:C98622|Orphanet:2004	ordo_morphological_anomaly
MONDO:0016061	biolink:Disease	immunodeficiency with factor H anomaly		Orphanet:200421	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016061	Orphanet:200421	ordo_disease
MONDO:0016062	biolink:Disease	median cleft lip/mandibule	Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification.	Orphanet:2006|SCTID:723383005	mondo.json	median cleft lower facial stage	http://purl.obolibrary.org/obo/MONDO_0016062	Orphanet:2006|http://identifiers.org/snomedct/723383005	ordo_morphological_anomaly
MONDO:0004078	biolink:Disease	mucinous intrahepatic cholangiocarcinoma	An intrahepatic cholangiocarcinoma that produces abundant mucin.	NCIT:C41618|UMLS:C1513718|DOID:7024	mondo.json	mucin-producing intrahepatic cholangiocarcinoma|mucinous intrahepatic cholangiocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004078	NCIT:C41618|UMLS:C1513718|DOID:7024	
MONDO:0004077	biolink:Disease	lumbosacral lipoma	A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within the lumbosacral tissue of the spine.	NCIT:C6500|UMLS:C1334438|DOID:7017	mondo.json	lipoma of sacral region of vertebral column|sacral region of vertebral column lipoma	http://purl.obolibrary.org/obo/MONDO_0004077	NCIT:C6500|DOID:7017|UMLS:C1334438	
MONDO:0004079	biolink:Disease	lung mucous gland adenoma	A benign adenomatous neoplasm that arises from the mucous glands in the bronchus.	DOID:7030|NCIT:C5664|UMLS:C1332640	mondo.json	bronchial mucus gland adenoma|lung mucous gland adenoma|adenoma of bronchial mucous gland|adenoma of bronchial mucus gland|adenoma of the bronchial mucous gland|bronchial cystadenoma|adenoma of the bronchial mucus gland|lung polyadenoma	http://purl.obolibrary.org/obo/MONDO_0004079	UMLS:C1332640|NCIT:C5664|DOID:7030	
MONDO:0004074	biolink:Disease	ovarian mucinous cystadenofibroma	A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma.	UMLS:C1518725|NCIT:C40041|DOID:7013	mondo.json	ovarian mucinous cystadenofibroma	http://purl.obolibrary.org/obo/MONDO_0004074	UMLS:C1518725|DOID:7013|NCIT:C40041	
MONDO:0004073	biolink:Disease	obsolete dentin dysplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004073		
MONDO:0004076	biolink:Disease	tendon sheath lipoma	A benign tumor, composed of mature adipocytes, that arises within the tendon sheath.	UMLS:C1336703|DOID:7016|NCIT:C6499	mondo.json	lipoma of tendon sheath|lipoma of the tendon sheath|tendon sheath lipoma	http://purl.obolibrary.org/obo/MONDO_0004076	NCIT:C6499|UMLS:C1336703|DOID:7016	
MONDO:0043683	biolink:Disease	Leriche syndrome	An atherosclerotic disorder of the peripheral vascular system affecting mostly males in their later decades. It is caused by thrombotic occlusion of the abdominal aorta just above the level of the bifurcation. Clinical signs include impotence, intermittent claudication, diminished femoral pulses and cold, pallid lower extremities. Prognosis is favorable with surgical or endovascular intervention.	MESH:D007925|NCIT:C34773|UMLS:C0023370|SCTID:307816004	mondo.json	syndrome, Leriche|Leriche syndrome|syndrome, Leriche's|Leriche's syndrome|leriche's syndrome|Leriches syndrome	http://purl.obolibrary.org/obo/MONDO_0043683	UMLS:C0023370|http://identifiers.org/mesh/D007925|http://identifiers.org/snomedct/307816004|NCIT:C34773	
MONDO:0004075	biolink:Disease	infiltrating lipoma	A benign tumor, composed of lobules of mature adipocytes, that penetrates the surrounding tissue from which it arises. There is usually a higher local recurrence rate when compared with non-infiltrating lipomas.	UMLS:C0334473|NCIT:C7451|DOID:7014	mondo.json	intramuscular lipoma|intramuscular lipoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0004075	NCIT:C7451|DOID:7014|UMLS:C0334473	
CHEBI:61951	biolink:ChemicalSubstance	microtubule-destabilising agent	Any substance that interacts with tubulin to inhibit polymerisation of microtubules.		mondo.json	microtubule destabilising agents|microtubule destabilizing role|microtubule destabilising agent|microtubule-destabilising agents|microtubule-destabilizing agent|microtubule destabilising role|microtubule-destabilizing agents	http://purl.obolibrary.org/obo/CHEBI_61951		
MONDO:0004070	biolink:Disease	obsolete gemistocytic astrocytoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004070		
MONDO:0004072	biolink:Disease	obsolete protoplasmic astrocytoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004072		
MONDO:0004071	biolink:Disease	childhood cerebral astrocytoma	An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children.	DOID:7007|UMLS:C0338070|NCIT:C4347|GARD:0009302	mondo.json	cerebral astrocytoma|pediatric astrocytoma of the cerebrum|cerebral astrocytoma, childhood|childhood astrocytic tumor of telencephalon|telencephalon juvenile astrocytoma|pediatric astrocytoma of cerebrum|pediatric cerebral astrocytoma|childhood astrocytoma of cerebrum|childhood astrocytoma of the cerebrum|telencephalon childhood astrocytic tumor	http://purl.obolibrary.org/obo/MONDO_0004071	UMLS:C0338070|NCIT:C4347|DOID:7007	gard_rare
MONDO:0043678	biolink:Disease	chromosome inversion disorder	Chromosomal disorder consisting of the presence a chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome.	MESH:D007446|NCIT:C6827	mondo.json	chromosomal Inversions|chromosome Inversions|chromosomal inversion|Inversions, chromosomal|inversion, chromosomal|inversion, chromosome|inverted chromosome|inversion|Inversions, chromosome|inv	http://purl.obolibrary.org/obo/MONDO_0043678	http://identifiers.org/mesh/D007446	
MONDO:0016067	biolink:Disease	Crandall syndrome	This syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Bjrnstad's syndrome that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder.	ICD9:704.8|Orphanet:202|GARD:0001561|SCTID:278098005|UMLS:C0432348	mondo.json	alopecia-deafness-hypogonadism syndrome|alopecia deafness hypogonadism|alopecia-sensorineural deafness-hypogonadism syndrome	http://purl.obolibrary.org/obo/MONDO_0016067	Orphanet:202|http://identifiers.org/snomedct/278098005|UMLS:C0432348	gard_rare|ordo_disease
MONDO:0016068	biolink:Disease	fibrochondrogenesis	Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.	DOID:0060465|Orphanet:2021|GARD:0002321|OMIMPS:228520|MESH:C562524|SCTID:17144009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016068	http://identifiers.org/snomedct/17144009|DOID:0060465|http://identifiers.org/mesh/C562524|https://omim.org/phenotypicSeries/PS228520|Orphanet:2021	gard_rare|ordo_disease
MONDO:0016069	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0016069		
MONDO:0016063	biolink:Disease	Cowden disease		MedDRA:10051906|NCIT:C8419|MESH:D006223|Orphanet:201|DOID:6457|OMIMPS:158350|UMLS:C0391826|GARD:0006202|SCTID:58037000|UMLS:C0018553|NCIT:C3076	mondo.json	Cowden disease|Cowden syndrome|MHAM|dysplastic gangliocytoma of cerebellum|Cowden's disease|multiple hamartoma syndrome|CD	http://purl.obolibrary.org/obo/MONDO_0016063	Orphanet:201|http://identifiers.org/snomedct/58037000|https://omim.org/phenotypicSeries/PS158350|http://identifiers.org/mesh/D006223|UMLS:C0018553|NCIT:C3076|DOID:6457	ordo_disease
MONDO:0016064	biolink:Disease	cleft palate	Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees.	MESH:D002972|SCTID:63567004|ICD9:749.00|UMLS:C0008925|Orphanet:2014|MedDRA:10009269|DOID:674|ICD9:749.0|NCIT:C87069	mondo.json	palatoschisis|uranostaphyloschisis	http://purl.obolibrary.org/obo/MONDO_0016064	http://identifiers.org/mesh/D002972|DOID:674|NCIT:C87069|UMLS:C0008925|Orphanet:2014|http://identifiers.org/snomedct/63567004	ordo_group_of_disorders|disease_grouping
MONDO:0016065	biolink:Disease	cleft palate-short stature-vertebral anomalies syndrome	Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993.	SCTID:719466009|UMLS:CN200784|Orphanet:2015|GARD:0001392	mondo.json	cleft palate short stature vertebral anomalies|Mathieu-De Broca-Bony syndrome	http://purl.obolibrary.org/obo/MONDO_0016065	UMLS:CN200784|http://identifiers.org/snomedct/719466009|Orphanet:2015	ordo_malformation_syndrome|gard_rare
MONDO:0016066	biolink:Disease	sternal cleft	Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated.	SCTID:54008006|Orphanet:2017|MESH:C537489|UMLS:C2931507|ICD9:756.3|GARD:0005012	mondo.json	cleft sternum|congenital sternal cleft|sternum bifidum	http://purl.obolibrary.org/obo/MONDO_0016066	http://identifiers.org/mesh/C537489|UMLS:C2931507|Orphanet:2017|http://identifiers.org/snomedct/54008006	disease_grouping|ordo_group_of_disorders|gard_rare
MONDO:0016050	biolink:Disease	obsolete thiamine-responsive encephalopathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016050		
MONDO:0016051	biolink:Disease	cleft lip-retinopathy syndrome	Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy.	MESH:C538272|GARD:0000435|Orphanet:1995|UMLS:C2931789	mondo.json	Ausems-Wittebol Post-Hennekam syndrome|cleft lip-progressive retinopathy syndrome|Ausems Wittebol-Post Hennekam syndrome|cleft lip with progressive retinopathy|cleft lip-cone rod dystrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0016051	Orphanet:1995|UMLS:C2931789|http://identifiers.org/mesh/C538272	ordo_malformation_syndrome
MONDO:0004089	biolink:Disease	basaloid carcinoma of the penis	An aggressive, human papillomavirus-related squamous cell carcinoma that arises from the penis. It is characterized by the presence of nests of small malignant cells. The malignant cells tend to invade deeply into the adjacent tissues. Comedo-type necrosis is often present.	UMLS:C1332462|ONCOTREE:BPSCC|NCIT:C6980|DOID:7047	mondo.json	penis basaloid squamous cell carcinoma|basaloid penile squamous cell carcinoma|squamous cell carcinoma of penis, basaloid type|basaloid carcinoma of the penis|basaloid carcinoma of penis|BPSCC|basaloid squamous cell carcinoma of the penis|basaloid squamous cell carcinoma of penis|squamous cell carcinoma of the penis, basaloid type|penis basaloid carcinoma	http://purl.obolibrary.org/obo/MONDO_0004089	UMLS:C1332462|NCIT:C6980|DOID:7047	
MONDO:0004088	biolink:Disease	cervical basaloid carcinoma	An aggressive variant of cervical squamous cell carcinoma characterized by the presence of nests of malignant basaloid squamous cells with scant amount of cytoplasm.	DOID:7046|NCIT:C40189|UMLS:C1511063	mondo.json	cervical basaloid squamous cell carcinoma|cervical basaloid carcinoma	http://purl.obolibrary.org/obo/MONDO_0004088	UMLS:C1511063|DOID:7046|NCIT:C40189	
HP:0030222	biolink:PhenotypicFeature	Visual agnosia	Difficulty in recognizing objects by visual input in absence of sensorial visual impairment.	MSH:D000377|SNOMEDCT_US:25762009|UMLS:C0234502	mondo.json		http://purl.obolibrary.org/obo/HP_0030222		
MONDO:0004085	biolink:Disease	choroid epithelioid cell melanoma	A epithelioid cell melanoma that involves the optic choroid.	NCIT:C6102|UMLS:C1333024|DOID:7041	mondo.json	optic choroid epithelioid cell melanoma|epithelioid cell melanoma of the choroid|epithelioid cell melanoma of optic choroid|epithelioid cell melanoma of choroid|choroid epithelioid cell melanoma|choroidal epithelioid cell melanoma	http://purl.obolibrary.org/obo/MONDO_0004085	NCIT:C6102|DOID:7041|UMLS:C1333024	
MONDO:0043693	biolink:Disease	alcoholic liver diseases	A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis.	EFO:0008573|SCTID:41309000|NCIT:C34783|MESH:D008108	mondo.json	liver disease, alcoholic|alcoholic liver damage|alcoholic liver disease|alcoholic liver diseases	http://purl.obolibrary.org/obo/MONDO_0043693	http://identifiers.org/mesh/D008108|NCIT:C34783|http://identifiers.org/snomedct/41309000	
MONDO:0004084	biolink:Disease	obsolete uveal epithelioid cell melanoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004084		
MONDO:0004087	biolink:Disease	basaloid large cell lung carcinoma	A morphologic variant of large cell lung carcinoma characterized by the presence of a solid nodular or anastomotic trabecular growth pattern, peripheral palisading, and comedo type necrosis.	NCIT:C7266|ONCOTREE:BLCLC|DOID:7045|UMLS:C1332463	mondo.json	basaloid large cell lung carcinoma|basaloid lung carcinoma|basaloid large cell carcinoma of the lung	http://purl.obolibrary.org/obo/MONDO_0004087	UMLS:C1332463|NCIT:C7266|DOID:7045	
MONDO:0004086	biolink:Disease	ciliary body epithelioid cell melanoma	A epithelioid cell melanoma that involves the ciliary body.	NCIT:C6119|UMLS:C1333050|DOID:7042	mondo.json	ciliary body epithelioid cell melanoma|epithelioid cell melanoma of ciliary body|epithelioid cell melanoma of the ciliary body	http://purl.obolibrary.org/obo/MONDO_0004086	NCIT:C6119|DOID:7042|UMLS:C1333050	
MONDO:0004081	biolink:Disease	extrahepatic bile duct clear cell adenocarcinoma	A morphologic variant of extrahepatic bile duct adenocarcinoma characterized by the presence of malignant glandular epithelium composed of clear cells.	NCIT:C5775|UMLS:C0861855|DOID:7032	mondo.json	bile duct clear cell carcinoma|clear cell bile duct adenocarcinoma|clear cell adenocarcinoma of the bile duct|clear cell adenocarcinoma of bile duct|bile duct clear cell adenocarcinoma|extrahepatic bile duct clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004081	NCIT:C5775|DOID:7032|UMLS:C0861855	
MONDO:0004080	biolink:Disease	glottis squamous cell carcinoma	A squamous cell carcinoma of the larynx that arises from the glottic area. It may remain localized for a long period then in late disease stage, it may spread to the opposite true vocal cord, supraglottic and subglottic areas, and the soft tissues of the neck. Hoarseness is the presenting symptom.	UMLS:C0280325|DOID:7031|NCIT:C8186	mondo.json	epidermoid carcinoma of glottis|glottis epidermoid carcinoma|glottic squamous cell carcinoma|glottic epidermoid carcinoma|squamous cell carcinoma of glottis|squamous cell carcinoma of the glottis|glottis squamous cell carcinoma|epidermoid carcinoma of the glottis	http://purl.obolibrary.org/obo/MONDO_0004080	UMLS:C0280325|DOID:7031|NCIT:C8186	
MONDO:0004083	biolink:Disease	Borst-Jadassohn intraepidermal carcinoma	A rare cutaneous lesion presenting as a scaly verrucous plaque. Morphologically, the plaque contains nests of basaloid cells.	UMLS:C0334260|DOID:7039|SCTID:403886007|ICDO:8096/0|EFO:1001841|NCIT:C4110|UMLS:C2937231	mondo.json	Bowen's disease, clonal|intraepidermal epithelioma of Jadassohn	http://purl.obolibrary.org/obo/MONDO_0004083	http://identifiers.org/snomedct/403886007|NCIT:C4110|UMLS:C0334260|DOID:7039|UMLS:C2937231	
MONDO:0004082	biolink:Disease	childhood immature teratoma of ovary	An immature teratoma that arises from the ovary and occurs in children.	DOID:7037|UMLS:C1332990|NCIT:C6547	mondo.json	childhood ovarian immature teratoma|pediatric immature teratoma of the ovary|childhood immature ovarian teratoma|immature ovarian teratoma of childhood|pediatric ovarian immature teratoma|pediatric immature teratoma of ovary|childhood immature teratoma of the ovary|pediatric immature ovarian teratoma	http://purl.obolibrary.org/obo/MONDO_0004082	UMLS:C1332990|NCIT:C6547|DOID:7037	
HP:0005257	biolink:PhenotypicFeature	Thoracic hypoplasia		UMLS:C1837482	mondo.json	Small chest|Small thorax	http://purl.obolibrary.org/obo/HP_0005257		
MONDO:0016056	biolink:Disease	isolated congenital microcephaly		Orphanet:199642|MedDRA:10027534|DOID:0070297|GARD:0007038	mondo.json	true microcephaly|microcephaly, primary|primary microcephaly	http://purl.obolibrary.org/obo/MONDO_0016056	Orphanet:199642|DOID:0070297	ordo_malformation_syndrome
MONDO:0016057	biolink:Disease	isolated encephalocele	Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur.	Orphanet:199647|GARD:0006333|MedDRA:10014617	mondo.json	cranium bifidum|bifid cranium|craniocele|encephalocele	http://purl.obolibrary.org/obo/MONDO_0016057	Orphanet:199647	ordo_morphological_anomaly
MONDO:0016058	biolink:Disease	paroxysmal dystonia		Orphanet:200037|SCTID:230310003|ICD9:333.99	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016058	Orphanet:200037|http://identifiers.org/snomedct/230310003	disease_grouping|ordo_group_of_disorders
MONDO:0016059	biolink:Disease	cleft lip/palate-deafness-sacral lipoma syndrome	Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.	Orphanet:2003|SCTID:716007007|UMLS:CN200748	mondo.json	Lowry-Yong syndrome	http://purl.obolibrary.org/obo/MONDO_0016059	http://identifiers.org/snomedct/716007007|Orphanet:2003|UMLS:CN200748	ordo_malformation_syndrome
MONDO:0016052	biolink:Disease	atypical autism	Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '	SCTID:231536004|Orphanet:199627|ICD9:299.80|MedDRA:10003747	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016052	http://identifiers.org/snomedct/231536004|Orphanet:199627	ordo_disease
MONDO:0016053	biolink:Disease	isolated cerebellar vermis hypoplasia	Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms.	Orphanet:199630|SCTID:766709000	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016053	Orphanet:199630|http://identifiers.org/snomedct/766709000	ordo_morphological_anomaly
MONDO:0016054	biolink:Disease	cerebral malformation		Orphanet:199633	mondo.json	brain malformation	http://purl.obolibrary.org/obo/MONDO_0016054	Orphanet:199633	disease_grouping|ordo_group_of_disorders
MONDO:0016055	biolink:Disease	obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature		UMLS:CN200739|Orphanet:199639	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016055	UMLS:CN200739|Orphanet:199639	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0016040	biolink:Disease	harlequin syndrome	Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur.	UMLS:C2029348|ICD9:705.89|MESH:C535634|GARD:0008610|Orphanet:199282|SCTID:14070001000004105	mondo.json	sudden onset of unilateral flushing and sweating|progressive isolated segmental anhidrosis|unilateral loss of facial flushing and sweating with contralateral anhidrosis	http://purl.obolibrary.org/obo/MONDO_0016040	http://identifiers.org/snomedct/14070001000004105|http://identifiers.org/mesh/C535634|Orphanet:199282|UMLS:C2029348	ordo_disease|gard_rare
MONDO:0004059	biolink:Disease	dentin sensitivity	Pain or discomfort caused by exposure of the dentin layer of tooth to thermal, tactile, or other stimuli.	SCTID:13468005|UMLS:C0011432|MESH:D003807|DOID:698	mondo.json	sensitive dentin	http://purl.obolibrary.org/obo/MONDO_0004059	http://identifiers.org/mesh/D003807|http://identifiers.org/snomedct/13468005|DOID:698|UMLS:C0011432	
MONDO:0004056	biolink:Disease	bladder papillary urothelial carcinoma	An invasive or non-invasive papillary transitional cell carcinoma of the urinary bladder. It is classified as low - or high-grade. -- 2003	NCIT:C7383|DOID:6975|UMLS:C1518882	mondo.json	bladder urothelial papillary carcinoma|urothelial papillary carcinoma of the bladder|bladder papillary urothelial carcinoma|urinary bladder papillary transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004056	DOID:6975|NCIT:C7383|UMLS:C1518882	
HP:0032894	biolink:PhenotypicFeature	Seizure precipitated by febrile infection	Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age.		mondo.json	Fever induced seizure	http://purl.obolibrary.org/obo/HP_0032894		
MONDO:0004055	biolink:Disease	acute inflammation of lacrimal passage		SCTID:302900006|UMLS:C0339129|ICD9:375.3|DOID:6970	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004055	DOID:6970|UMLS:C0339129|http://identifiers.org/snomedct/302900006	
MONDO:0004058	biolink:Disease	pancreatic cholera	A rare syndrome characterized by severe watery diarrhea, hypokalemia, and achlorhydria. It is caused by the oversecretion of vasoactive intestinal peptide from the pancreatic islet cells.	ICD9:259.3|MESH:D003969|SCTID:39998009|DOID:6977|NCIT:C3488	mondo.json	pancreatic WDHA syndrome|watery diarrhea with hypokalemic alkalosis|Verner Morrison syndrome|islet cell WDHA syndrome|watery diarrhea syndrome|WDHA syndrome|WDHH|excessive vasoactive intestinal peptide secretion|watery diarrhea, hypokalemia, and achlorhydria syndrome	http://purl.obolibrary.org/obo/MONDO_0004058	NCIT:C3488|http://identifiers.org/snomedct/39998009|DOID:6977	
MONDO:0004057	biolink:Disease	micropapillary variant infiltrating bladder urothelial carcinoma	An infiltrating bladder transitional cell carcinoma exhibiting micropapillary growth pattern. -- 2003	NCIT:C27202|DOID:6976|EFO:0008512|UMLS:C1517579	mondo.json	infiltrating bladder urothelial carcinoma, micropapillary variant	http://purl.obolibrary.org/obo/MONDO_0004057	UMLS:C1517579|DOID:6976|NCIT:C27202	
MONDO:0004052	biolink:Disease	rectal cloacogenic carcinoma	A carcinoma that arises from the transitional zone at the junction of the rectum and anus.	DOID:6959|UMLS:C1333074|NCIT:C5555	mondo.json	transition zone carcinoma of rectum|rectal transitional zone carcinoma|transition zone carcinoma of the rectum|cloacogenic carcinoma of rectum|cloacogenic carcinoma of the rectum|rectal transition zone carcinoma|transitional zone carcinoma of rectum|rectal cloacogenic carcinoma|transitional zone carcinoma of the rectum	http://purl.obolibrary.org/obo/MONDO_0004052	UMLS:C1333074|DOID:6959|NCIT:C5555	
NCBITaxon:1463974	biolink:OrganismalEntity	Cryptostroma		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1463974		
MONDO:0004051	biolink:Disease	aleukemic monocytic leukemia cutis		DOID:6958|NCIT:C5630|UMLS:C1332232	mondo.json	aleukemic monocytic leukemia cutis	http://purl.obolibrary.org/obo/MONDO_0004051	UMLS:C1332232|DOID:6958|NCIT:C5630	
NCBITaxon:1463975	biolink:OrganismalEntity	Cryptostroma corticale		GC_ID:1	mondo.json	Coniosporium corticale	http://purl.obolibrary.org/obo/NCBITaxon_1463975		
MONDO:0004054	biolink:Disease	acute canaliculitis		ICD9:375.31|DOID:6969|UMLS:C0339130|SCTID:84399007	mondo.json	acute canaliculitis, lacrimal|acute lacrimal canaliculitis	http://purl.obolibrary.org/obo/MONDO_0004054	UMLS:C0339130|DOID:6969|http://identifiers.org/snomedct/84399007	
HP:0032892	biolink:PhenotypicFeature	Infection-related seizure	Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever.		mondo.json		http://purl.obolibrary.org/obo/HP_0032892		
MONDO:0004053	biolink:Disease	bartholin gland squamous cell carcinoma	A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells.	EFO:1000104|NCIT:C40293|DOID:6961|UMLS:C1511052	mondo.json	Bartholin's gland squamous cell carcinoma|major vestibular gland squamous cell carcinoma|bartholin gland squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004053	NCIT:C40293|DOID:6961|UMLS:C1511052	
HGNC:26190	biolink:NamedThing	MTMR14			mondo.json		http://identifiers.org/hgnc/26190		
MONDO:0004050	biolink:Disease	telangiectatic osteogenic sarcoma	An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma.	ONCOTREE:TEOS|UMLS:C0259782|NCIT:C3902|DOID:6951|ICDO:9183/3	mondo.json	telangiectatic osteosarcoma (morphologic abnormality)|telangiectatic osteosarcoma|TEOS|malignant bone aneurysm	http://purl.obolibrary.org/obo/MONDO_0004050	NCIT:C3902|DOID:6951|UMLS:C0259782	
MONDO:0016049	biolink:Disease	congenital myopathy, Paradas type	Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development.	Orphanet:199329	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016049	Orphanet:199329	ordo_disease
HP:0030236	biolink:PhenotypicFeature	Abnormality of muscle size	Abnormalities of the overall muscle bulk based on clinical observation.	UMLS:C4022563	mondo.json	Abnormality of muscle size	http://purl.obolibrary.org/obo/HP_0030236		
HGNC:26193	biolink:NamedThing	CSPP1			mondo.json		http://identifiers.org/hgnc/26193		
MONDO:0016045	biolink:Disease	tetragametic chimerism	Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins.	UMLS:CN200724|Orphanet:199310	mondo.json	46,XX/46,XY chimerism	http://purl.obolibrary.org/obo/MONDO_0016045	UMLS:CN200724|Orphanet:199310	ordo_malformation_syndrome
MONDO:0016046	biolink:Disease	familial clubfoot with or without associated lower limb anomalies	Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.	Orphanet:199315|UMLS:CN200725	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016046	UMLS:CN200725|Orphanet:199315	ordo_malformation_syndrome
MONDO:0016047	biolink:Disease	endophthalmitis	An infectious process affecting the internal structures of the eye.	MedDRA:10014801|NCIT:C34586|Orphanet:199323|UMLS:C0014236|MESH:D009877|SCTID:1847009|ICD9:360.19|DOID:4692	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016047	http://identifiers.org/snomedct/1847009|UMLS:C0014236|NCIT:C34586|http://identifiers.org/mesh/D009877|DOID:4692|Orphanet:199323	ordo_disease
MONDO:0016048	biolink:Disease	isolated autosomal dominant hypomagnesemia, Glaudemans type	Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.	Orphanet:199326|SCTID:722008003|UMLS:CN200728	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016048	UMLS:CN200728|Orphanet:199326|http://identifiers.org/snomedct/722008003	ordo_disease
MONDO:0016041	biolink:Disease	congenital microgastria	Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies.	SCTID:83714006|Orphanet:199293|ICD9:750.7	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016041	http://identifiers.org/snomedct/83714006|Orphanet:199293	ordo_morphological_anomaly
MONDO:0016042	biolink:Disease	late-onset isolated ACTH deficiency	Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described.	Orphanet:199299	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016042	Orphanet:199299	ordo_disease
MONDO:0016043	biolink:Disease	isolated cleft lip	Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.	Orphanet:199302|OMIM:129400|MedDRA:10009259|OMIM:225060	mondo.json	nonsyndromic cleft lip (disease)|isolated cleft lip (disease)	http://purl.obolibrary.org/obo/MONDO_0016043	Orphanet:199302	ordo_morphological_anomaly
MONDO:0016044	biolink:Disease	cleft lip/palate	Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.	Orphanet:199306|ICD9:749.25|OMIM:225060|MedDRA:10009260|ICD9:749.20|ICD10CM:Q35-Q37|SCTID:66948001|OMIM:129400	mondo.json	alveolar cleft lip and palate|FLP|cleft lip and palate|cleft lip-alveolus-palate syndrome	http://purl.obolibrary.org/obo/MONDO_0016044	http://identifiers.org/snomedct/66948001|http://purl.bioontology.org/ontology/ICD10CM/Q35-Q37|Orphanet:199306	ordo_morphological_anomaly
CHEBI:71300	biolink:ChemicalSubstance	EC 2.* (transferase) inhibitor	An enzyme inhibitor that inhibits the action of a transferase (EC 2.*)		mondo.json	EC 2 inhibitor|EC 2 inhibitors|EC 2.* inhibitor|EC 2.* (transferase) inhibitors|transferase inhibitor|transferase inhibitors|EC 2.* inhibitors	http://purl.obolibrary.org/obo/CHEBI_71300		
MONDO:0018691	biolink:Disease	obsolete endometrioid carcinoma of ovary			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018691		
MONDO:0018690	biolink:Disease	Holmes-Adie syndrome	A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye.	DOID:11549|UMLS:C0001519|GARD:0005749|MESH:D000270|OMIM:103100|EFO:0004126|SCTID:24225004|NCIT:C34357|Orphanet:454718	mondo.json	Adie pupil|Adie's pupil syndrome|Holmes-Adie syndrome|Adie's pupil or syndrome|Adie's syndrome|tonic pupil|Adie's pupil|tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes|poorly Reacting pupils|Adie syndrome|tonic pupil-tendon areflexia syndrome	http://purl.obolibrary.org/obo/MONDO_0018690	http://identifiers.org/mesh/D000270|Orphanet:454718|UMLS:C0001519|NCIT:C34357|DOID:11549|http://identifiers.org/snomedct/24225004	ordo_disease
MONDO:0004067	biolink:Disease	gallbladder mucinous adenocarcinoma	An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor.	DOID:6998|NCIT:C5744|UMLS:C1333750	mondo.json	gall bladder mucinous adenocarcinoma|colloidal carcinoma of the gallbladder|colloidal carcinoma of gallbladder|gallbladder mucinous adenocarcinoma|gallbladder colloid carcinoma|mucinous carcinoma of the gallbladder|mucinous carcinoma of gallbladder|colloid carcinoma of the gallbladder|colloid carcinoma of gallbladder|gallbladder colloidal carcinoma|gallbladder mucinous carcinoma	http://purl.obolibrary.org/obo/MONDO_0004067	UMLS:C1333750|DOID:6998|NCIT:C5744	
MONDO:0004066	biolink:Disease	intermediate cell type ciliary body melanoma	Ciliary body melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.	UMLS:C1334209|DOID:6997|NCIT:C6118	mondo.json	ciliary body intermediate cell type uveal melanoma|Intermediate cell type ciliary body melanoma|intermediate cell type uveal melanoma of ciliary body	http://purl.obolibrary.org/obo/MONDO_0004066	DOID:6997|NCIT:C6118|UMLS:C1334209	
MONDO:0004069	biolink:Disease	inborn mitochondrial metabolism disorder	Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.	UMLS:CN552492|Orphanet:68380|DOID:700|GARD:0007048|MESH:D028361	mondo.json	mitochondrial genetic disorders|mitochondrial metabolism disease|mitochondrial disease	http://purl.obolibrary.org/obo/MONDO_0004069	http://identifiers.org/mesh/D028361|Orphanet:68380|DOID:700	gard_rare|disease_grouping|ordo_group_of_disorders
MONDO:0004068	biolink:Disease	obsolete disease of anatomical entity			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004068		
MONDO:0004063	biolink:Disease	intermediate cell type iris melanoma	Iris melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.	UMLS:C1334210|NCIT:C6101|DOID:6993	mondo.json	intermediate cell type uveal melanoma of iris|Intermediate cell type iris melanoma|iris mixed cell melanoma|iris intermediate cell type uveal melanoma	http://purl.obolibrary.org/obo/MONDO_0004063	DOID:6993|NCIT:C6101|UMLS:C1334210	
MONDO:0041052	biolink:Disease	postherpetic neuralgia		SCTID:2177002|UMLS:C0032768|Orphanet:466673	mondo.json	postherpetic neuralgia|PHN - post-herpetic neuralgia|post-zoster neuralgia	http://purl.obolibrary.org/obo/MONDO_0041052	UMLS:C0032768|http://identifiers.org/snomedct/2177002|Orphanet:466673	
OBO:mondo#part_of_progression_of_disease	biolink:NamedThing	part of progression of disease			mondo.json		http://purl.obolibrary.org/obo/mondo#part_of_progression_of_disease		
MONDO:0004062	biolink:Disease	intermediate cell type uveal melanoma	Uveal melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.	UMLS:C0279693|DOID:6992|NCIT:C7989	mondo.json	intraocular mixed cell type melanoma|mixed cell type uveal melanoma|Intermediate cell type intraocular melanoma|Intermediate cell type uveal melanoma	http://purl.obolibrary.org/obo/MONDO_0004062	UMLS:C0279693|DOID:6992|NCIT:C7989	
MONDO:0004065	biolink:Disease	intermediate cell type choroid melanoma	Choroid melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.	NCIT:C6100|DOID:6996|UMLS:C1334208	mondo.json	optic choroid intermediate cell type uveal melanoma|intermediate cell type uveal melanoma of optic choroid|Intermediate cell type choroid melanoma|mixed cell melanoma of choroid	http://purl.obolibrary.org/obo/MONDO_0004065	DOID:6996|NCIT:C6100|UMLS:C1334208	
MONDO:0004064	biolink:Disease	iris melanoma	A uveal melanoma that arises from the iris. It is the most common primary malignant neoplasm of the iris. The majority arise in preexisting nevi.	UMLS:CN204945|NCIT:C9088|DOID:6994|SCTID:255012009	mondo.json	melanoma (disease) of iris|iris malignant melanoma|iris melanoma|malignant melanoma of iris|malignant melanoma of the iris|melanoma of iris|melanoma of the iris|malignant iris melanoma|iris melanoma (disease)	http://purl.obolibrary.org/obo/MONDO_0004064	NCIT:C9088|DOID:6994|http://identifiers.org/snomedct/255012009|UMLS:CN204945	
MONDO:0004061	biolink:Disease	obsolete mitochondrial myopathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004061		
MONDO:0004060	biolink:Disease	peripheral epithelioid sarcoma	An epithelioid sarcoma involving the extremities. It usually presents as nodular masses in the dermis and subcutaneous tissues or in the tendons and fascia. It frequently recurs and metastasizes to other anatomic sites. The most common sites of metastasis are the lungs, lymph nodes, bones, and brain.	NCIT:C27473|DOID:6988|UMLS:C1333306	mondo.json	conventional epithelioid sarcoma|distal-type epithelioid sarcoma	http://purl.obolibrary.org/obo/MONDO_0004060	DOID:6988|NCIT:C27473|UMLS:C1333306	
MONDO:0016038	biolink:Disease	calcified aponeurotic fibroma	A rare slow-growing benign neoplasm arising from the soft tissues in children. It is a poorly circumscribed tumor characterized by the presence of chondrocyte-like cells, nodular calcification, nuclear palisading, and in some cases osteoclastic giant cells.	Orphanet:199260|UMLS:C0553647|SCTID:703614006|NCIT:C4818	mondo.json	Keasby tumor|juvenile aponeurotic fibromatosis|Juvenile aponeurotic fibroma|Juvenile aponeurotic fibrosis|calcifying aponeurotic fibroma	http://purl.obolibrary.org/obo/MONDO_0016038	NCIT:C4818|http://identifiers.org/snomedct/703614006|UMLS:C0553647|Orphanet:199260	ordo_disease
MONDO:0016039	biolink:Disease	infantile digital fibromatosis		GARD:0008487|HP:0025197|EFO:1000301|Orphanet:199267|SCTID:399903008|NCIT:C3456|UMLS:C1318562|ICD9:238.8	mondo.json	asymptomatic nodular proliferation of fibrous tissue on the dorsal and lateral aspects of the fingers or toes|infantile digital fibromatosis|Reye tumor|inclusion body fibromatosis (disease)|infantile digital fibroma/fibromatosis|inclusion body fibromatosis|digital fibrous tumor of Reye|recurring digital fibrous tumor of childhood|IDF|Reye's tumor	http://purl.obolibrary.org/obo/MONDO_0016039	http://identifiers.org/snomedct/399903008|UMLS:C1318562|NCIT:C3456|Orphanet:199267	gard_rare|ordo_disease
MONDO:0018697	biolink:Disease	1p35.2 microdeletion syndrome		UMLS:CN237766|Orphanet:456298	mondo.json	monosomy 1p35.2|deletion 1p35.2|Del(1)(p35.2)	http://purl.obolibrary.org/obo/MONDO_0018697	Orphanet:456298|UMLS:CN237766	ordo_malformation_syndrome
MONDO:0016034	biolink:Disease	cleft lip with or without cleft palate		Orphanet:1991	mondo.json	Tessier cleft number 1,2	http://purl.obolibrary.org/obo/MONDO_0016034	Orphanet:1991	ordo_group_of_disorders|disease_grouping
GO:0033578	biolink:NamedThing	obsolete protein glycosylation in Golgi	OBSOLETE. The addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus.		mondo.json	terminal glycosylation|protein amino acid glycosylation in Golgi	http://purl.obolibrary.org/obo/GO_0033578		
MONDO:0016035	biolink:Disease	Nelson syndrome	A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation.	MESH:D009347|DOID:4968|MedDRA:10028913|MESH:C531754|SCTID:43019009|UMLS:C0027577|NCIT:C84917|GARD:0007170|Orphanet:199244|OMIM:125530	mondo.json	dermal Ridges|Nelson's syndrome|Ridges-off-the-end syndrome	http://purl.obolibrary.org/obo/MONDO_0016035	http://identifiers.org/snomedct/43019009|NCIT:C84917|http://identifiers.org/mesh/C531754|UMLS:C0027577|http://identifiers.org/mesh/D009347|Orphanet:199244|DOID:4968	ordo_disease|gard_rare
MONDO:0018696	biolink:Disease	corticobasal syndrome	Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.	Orphanet:454887|UMLS:CN237765	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018696	Orphanet:454887|UMLS:CN237765	ordo_disease
GO:0033576	biolink:NamedThing	obsolete protein glycosylation in cytosol	OBSOLETE. The addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in the cytosol.		mondo.json	protein amino acid glycosylation in cytosol	http://purl.obolibrary.org/obo/GO_0033576		
MONDO:0018699	biolink:Disease	obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy		Orphanet:457059	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018699	Orphanet:457059	ordo_group_of_disorders|disease_grouping
MONDO:0016036	biolink:Disease	obsolete Ledderhose disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016036		
MONDO:0018698	biolink:Disease	hereditary neuroendocrine tumor of small intestine	An instance of neuroendocrine tumor of the small intestine that is caused by an inherited modification of the individual's genome.	UMLS:CN847586|Orphanet:456333|UMLS:CN237770	mondo.json	hereditary neuroendocrine tumor of small bowel|hereditary neuroendocrine tumor of the small intestine|hereditary small intestine neuroendocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0018698	Orphanet:456333|UMLS:CN847586|UMLS:CN237770	ordo_disease
MONDO:0016037	biolink:Disease	superficial Fibromatosis	A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern.	NCIT:C6814|UMLS:C0406571|SCTID:238853007|EFO:1000556|ICD9:729.99|Orphanet:199257	mondo.json	superficial Fibromatosis	http://purl.obolibrary.org/obo/MONDO_0016037	http://identifiers.org/snomedct/238853007|NCIT:C6814|UMLS:C0406571|Orphanet:199257	disease_grouping|ordo_group_of_disorders
MONDO:0016030	biolink:Disease	Evans syndrome	Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology.	NCIT:C61284|MESH:C536380|MedDRA:10053873|UMLS:C0272126|ICD9:287.32|SCTID:75331009|DOID:8931|GARD:0006389|Orphanet:1959|ICD10CM:D69.41	mondo.json	Evans' syndrome|immune pancytopenia|Evan syndrome|autoimmune hemolytic anemia and autoimmune thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0016030	DOID:8931|http://identifiers.org/mesh/C536380|Orphanet:1959|NCIT:C61284|http://identifiers.org/snomedct/75331009|http://purl.bioontology.org/ontology/ICD10CM/D69.41|UMLS:C0272126	gard_rare|ordo_disease
MONDO:0018693	biolink:Disease	obsolete kuru			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018693		
MONDO:0016031	biolink:Disease	facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome		MESH:C536384|GARD:0002221|UMLS:C2931183|Orphanet:1969	mondo.json	Friedman-Goodman syndrome|facial features (unique), anorexia, cachexia, eye and skin anomalies|faces syndrome	http://purl.obolibrary.org/obo/MONDO_0016031	http://identifiers.org/mesh/C536384|Orphanet:1969|UMLS:C2931183	ordo_malformation_syndrome
MONDO:0018692	biolink:Disease	variably protease-sensitive prionopathy		SCTID:721165001|Orphanet:454742|UMLS:C4303527	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018692	http://identifiers.org/snomedct/721165001|Orphanet:454742|UMLS:C4303527	ordo_disease
MONDO:0018695	biolink:Disease	avian influenza	Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry.	UMLS:C0016627|Orphanet:454836|UMLS:CN237762|EFO:0005222|MESH:D005585|SCTID:55604004|DOID:4492	mondo.json	avian flu|bird flu	http://purl.obolibrary.org/obo/MONDO_0018695	http://identifiers.org/snomedct/55604004|UMLS:C0016627|Orphanet:454836|DOID:4492|UMLS:CN237762|http://identifiers.org/mesh/D005585	ordo_disease
MONDO:0016032	biolink:Disease	femoral agenesis/hypoplasia	Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.	SCTID:93255008|Orphanet:1987|GARD:0001503|ICD9:755.34	mondo.json	congenital short femur|femoral intercalary meromelia	http://purl.obolibrary.org/obo/MONDO_0016032	Orphanet:1987|http://identifiers.org/snomedct/93255008	ordo_malformation_syndrome
MONDO:0016033	biolink:Disease	Cornelia de Lange syndrome	A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.	GARD:0010109|UMLS:CN239271|DOID:11725|MedDRA:10056354|Orphanet:199|NCIT:C75016|OMIMPS:122470|UMLS:C0270972	mondo.json	De Lange syndrome|Cornelia de Lange syndrome|Brachmann de Lange syndrome|CDLS|Brachmann-de Lange syndrome	http://purl.obolibrary.org/obo/MONDO_0016033	DOID:11725|UMLS:CN239271|https://omim.org/phenotypicSeries/PS122470|Orphanet:199|NCIT:C75016|UMLS:C0270972	ordo_malformation_syndrome
MONDO:0018694	biolink:Disease	isolated tracheo-esophageal fistula	A congenital or acquired abnormal communication between the trachea and the esophagus.	Orphanet:454750|NCIT:C35080	mondo.json	tracheo-esophageal fistula|tracheoesophageal fistula|isolated tracheoesophageal fistula|H-type tracheoesophageal fistula	http://purl.obolibrary.org/obo/MONDO_0018694	NCIT:C35080|Orphanet:454750	ordo_morphological_anomaly
CHR:9606-chrXp11	biolink:NamedThing	Xp11 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chrXp11		
HGNC:14198	biolink:NamedThing	ELAC2			mondo.json		http://identifiers.org/hgnc/14198		
MONDO:0016092	biolink:Disease	serous or mucinous cystadenoma of childhood	Serous or mucinous cystadenoma of childhood is a benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation.	Orphanet:206470	mondo.json	mucinous cystadenoma of ovary in childhood|serous cystadenoma of ovary in childhood	http://purl.obolibrary.org/obo/MONDO_0016092	Orphanet:206470	ordo_disease
MONDO:0016093	biolink:Disease	borderline epithelial tumor of ovary	A low grade epithelial tumor arising from the ovary. It is characterized by an atypical proliferation of epithelial cells. There is no evidence of stromal invasion.	EFO:1000140|UMLS:C3665489|Orphanet:206473|GARD:0009363|NCIT:C4783|SCTID:764791008	mondo.json	ovarian tumors of low malignant potential|ovarian borderline malignant tumor|ovarian tum. of low malig. poten.|borderline epithelial tumor of the ovary|borderline epithelial tumor of ovary|low malignant potential ovarian tumor|ovarian low malignant potential tumor|borderline epithelial neoplasm of the ovary|borderline ovarian surface epithelial-stromal tumor|borderline epithelial neoplasm of ovary|epithelial ovarian tumor of borderline malignancy|borderline ovarian epithelial neoplasm|borderline ovarian epithelial tumor|ovarian tumor of low malignant potential|epithelial neoplasm of ovary of borderline malignancy|epithelial neoplasm of the ovary of borderline malignancy|epithelial tumor of ovary of borderline malignancy|epithelial ovarian neoplasm of borderline malignancy|epithelial tumor of the ovary of borderline malignancy	http://purl.obolibrary.org/obo/MONDO_0016093	Orphanet:206473|NCIT:C4783|UMLS:C3665489|http://identifiers.org/snomedct/764791008	ordo_disease
MONDO:0016094	biolink:Disease	vaginal germ cell malignant tumor	A malignant germ cell tumor that involves the vagina.	Orphanet:206489|UMLS:CN200860	mondo.json	vaginal germ cell cancer|malignant germ cell tumor of the vagina|vagina malignant germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0016094	Orphanet:206489|UMLS:CN200860	ordo_disease
MONDO:0016095	biolink:Disease	vaginal rhabdomyosarcoma	A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vagina.	UMLS:C4288035|NCIT:C128080|SCTID:766759009|Orphanet:206492	mondo.json	vagina rhabdomyosarcoma (disease)|vagina rhabdomyosarcoma|vulvovaginal rhabdomyosarcoma|rhabdomyosarcoma (disease) of vagina|vaginal rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0016095	Orphanet:206492|UMLS:C4288035|http://identifiers.org/snomedct/766759009|NCIT:C128080	ordo_disease
NCBITaxon:45709	biolink:OrganismalEntity				mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_45709		
MONDO:0016090	biolink:Disease	late-infantile/juvenile Krabbe disease		Orphanet:206443|UMLS:CN200855|SCTID:41142009	mondo.json	Krabbe disease, late-onset	http://purl.obolibrary.org/obo/MONDO_0016090	Orphanet:206443|http://identifiers.org/snomedct/41142009|UMLS:CN200855	ordo_clinical_subtype
MONDO:0016091	biolink:Disease	adult Krabbe disease	A Krabbe disease that occurs in an adult.	UMLS:CN200856|Orphanet:206448	mondo.json	Krabbe disease of adults	http://purl.obolibrary.org/obo/MONDO_0016091	Orphanet:206448|UMLS:CN200856	ordo_clinical_subtype
MONDO:0043653	biolink:Disease	herpes labialis	A lesion caused by type 1 or type 2 herpes simplex virus, typically involving the oralfacial region.	NCIT:C34695|SCTID:1475003|MESH:D006560|UMLS:C0019345|EFO:1001347	mondo.json	blister, fever|fever blisters|cold sore|fever blister|herpes simplex labialis|cold sores|Sores, cold|herpes labialis|Herpes simplex, labial|blisters, fever|labial Herpes simplex|Sore, cold	http://purl.obolibrary.org/obo/MONDO_0043653	NCIT:C34695|http://identifiers.org/snomedct/1475003|UMLS:C0019345|http://identifiers.org/mesh/D006560	
CHR:9606-chrXp22	biolink:NamedThing	Xp22 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chrXp22		
CHR:9606-chrXp21	biolink:NamedThing	Xp21 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chrXp21		
HGNC:26182	biolink:NamedThing	COLGALT1			mondo.json		http://identifiers.org/hgnc/26182		
GO:0033554	biolink:NamedThing	cellular response to stress	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation).		mondo.json		http://purl.obolibrary.org/obo/GO_0033554		
MONDO:0016096	biolink:Disease	malignant non-dysgerminomatous germ cell tumor of ovary	A malignant germ cell tumor other than dysgerminoma that arises from the ovary.	UMLS:CN200863|NCIT:C102870|UMLS:C3640983|Orphanet:206538	mondo.json	ovarian Nondysgerminomatous germ cell tumor|non-dysgerminomatous germ cell cancer of ovary|ovarian non-dysgerminomatous germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0016096	NCIT:C102870|Orphanet:206538|UMLS:C3640983|UMLS:CN200863	ordo_disease
HP:0005293	biolink:PhenotypicFeature	Venous insufficiency		MSH:D014689|UMLS:C0042485|SNOMEDCT_US:20696009	mondo.json	Poorly functioning veins	http://purl.obolibrary.org/obo/HP_0005293		
MONDO:0016097	biolink:Disease	symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers	Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.	SCTID:765197008|Orphanet:206546|UMLS:CN200864	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016097	UMLS:CN200864|Orphanet:206546|http://identifiers.org/snomedct/765197008	ordo_disease
MONDO:0016098	biolink:Disease	immune-mediated necrotizing myopathy	Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation.	Orphanet:206569|SCTID:715863001|GARD:0013307	mondo.json	autoimmune necrotizing myositis|anti-SRP myopathy|necrotizing autoimmune myopathy|NAM|anti-HMG-CoA myopathy|immune myopathy with myocyte necrosis|IMNM	http://purl.obolibrary.org/obo/MONDO_0016098	Orphanet:206569|http://identifiers.org/snomedct/715863001	ordo_disease
MONDO:0016099	biolink:Disease	overlap myositis	Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature.	Orphanet:206572	mondo.json	non-specific myositis|adult-onset overlap myositis	http://purl.obolibrary.org/obo/MONDO_0016099	Orphanet:206572	ordo_disease
MONDO:0016081	biolink:Disease	coronary arterial fistulas	Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel.	MedDRA:10069441|Orphanet:2041|GARD:0001533	mondo.json	Coronaro-cardiac fistula|coronary arterial malformations	http://purl.obolibrary.org/obo/MONDO_0016081	Orphanet:2041	ordo_morphological_anomaly
MONDO:0016082	biolink:Disease	obsolete tracheo-esophageal fistula-hypospadias syndrome		Orphanet:2042|UMLS:CN226834	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016082	Orphanet:2042|UMLS:CN226834	
MONDO:0016083	biolink:Disease	FLOTCH syndrome	FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported.	Orphanet:2045|MESH:C537065|UMLS:C2931411|GARD:0002346	mondo.json	leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome|familial occurrence of total leukonychia, trichilemmal cysts and ciliary dystrophy with dominant autosomal heredity	http://purl.obolibrary.org/obo/MONDO_0016083	UMLS:C2931411|Orphanet:2045|http://identifiers.org/mesh/C537065	ordo_disease|gard_rare
MONDO:0016084	biolink:Disease	obsolete Crigler-Najjar syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016084		
MONDO:0016080	biolink:Disease	congenital bronchobiliary fistula	Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.	GARD:0001475|Orphanet:2040|SCTID:719452004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016080	http://identifiers.org/snomedct/719452004|Orphanet:2040	ordo_morphological_anomaly|gard_rare
MONDO:0004099	biolink:Disease	adult cystic teratoma	A cystic teratoma that occurs in an adult.	DOID:7079|NCIT:C9012|UMLS:C1368888	mondo.json	cystic teratoma of adults|adult cystic teratoma	http://purl.obolibrary.org/obo/MONDO_0004099	UMLS:C1368888|DOID:7079|NCIT:C9012	
MONDO:0004096	biolink:Disease	spinal cord dermoid cyst	A dermoid cyst that involves the spinal cord.	UMLS:C1333278|NCIT:C6808|DOID:7071	mondo.json	dermoid cyst of the spinal cord|dermoid cyst of spinal cord|spinal cord dermoid|spinal cord dermoid cyst	http://purl.obolibrary.org/obo/MONDO_0004096	NCIT:C6808|DOID:7071|UMLS:C1333278	
GO:0008585	biolink:NamedThing	female gonad development	The process whose specific outcome is the progression of the female gonad over time, from its formation to the mature structure.		mondo.json	ovary development|ovarian development	http://purl.obolibrary.org/obo/GO_0008585		
MONDO:0004095	biolink:Disease	B-cell neoplasm	A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes.	GARD:0005877|NCIT:C27907|DOID:707|MESH:D016393	mondo.json	B-cell lymphocytic neoplasm|B-cell neoplasm|lymphoma, B-cell|B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0004095	DOID:707|NCIT:C27907|http://identifiers.org/mesh/D016393	gard_rare
HGNC:26158	biolink:NamedThing	ELMOD3			mondo.json		http://identifiers.org/hgnc/26158		
MONDO:0004098	biolink:Disease	malignant melanocytic peripheral nerve sheath tumor of mediastinum	A rare variant of malignant peripheral nerve sheath tumor that arises from the mediastinum. It is characterized by the presence of malignant cells that contain melanin.	NCIT:C6630|UMLS:C1334600|DOID:7077	mondo.json	malignant melanocytic neoplasm of the peripheral nerve sheath of mediastinum|malignant melanocytic peripheral nerve sheath tumor of mediastinum|mediastinal melanocytic MPNST|mediastinum malignant melanocytic neoplasm of the peripheral nerve sheath|malignant melanotic peripheral nerve sheath tumor of the mediastinum|malignant mediastinal melanocytic peripheral nerve sheath tumor	http://purl.obolibrary.org/obo/MONDO_0004098	NCIT:C6630|DOID:7077|UMLS:C1334600	
MONDO:0004097	biolink:Disease	obsolete lipid-rich breast carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004097		
MONDO:0004092	biolink:Disease	thymic basaloid carcinoma	A rare primary thymic carcinoma, characterized by the presence of tumor cell lobules with peripheral palisading, and a basophilic staining pattern. More than half of reported cases were associated with the presence of a multilocular thymic cyst. Metastases to lung and liver have been reported in approximately 30% of cases.	UMLS:C1332464|NCIT:C6456|DOID:7050	mondo.json	Thymus basaloid carcinoma|basaloid carcinoma of the Thymus|basaloid carcinoma of Thymus|thymic basaloid carcinoma|thymus basaloid squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004092	NCIT:C6456|DOID:7050|UMLS:C1332464	
MONDO:0004091	biolink:Disease	skin basaloid carcinoma	A basaloid squamous cell carcinoma that involves the zone of skin.	DOID:7049|NCIT:C27543|UMLS:C1335973	mondo.json	skin basaloid squamous cell carcinoma|skin basaloid carcinoma|basaloid skin squamous cell carcinoma|zone of skin basaloid squamous cell carcinoma|basaloid squamous cell skin carcinoma	http://purl.obolibrary.org/obo/MONDO_0004091	NCIT:C27543|DOID:7049|UMLS:C1335973	
MONDO:0004094	biolink:Disease	multiple skull base meningioma	Multiple meningiomas that affect the skull base.	NCIT:C5279|DOID:7054|UMLS:C1334829	mondo.json	multiple skull base meningiomas	http://purl.obolibrary.org/obo/MONDO_0004094	NCIT:C5279|DOID:7054|UMLS:C1334829	
MONDO:0004093	biolink:Disease	esophageal basaloid carcinoma	A rare morphologic variant of esophageal squamous cell carcinoma. Histologically, it is composed of closely packed cells with hyperchromatic nuclei and scant basophilic cytoplasm. It has a similar prognosis to the conventional squamous cell carcinoma of the esophagus. (WHO)	NCIT:C7032|DOID:7051|UMLS:C1333443	mondo.json	esophageal basaloid squamous cell carcinoma|esophageal basaloid carcinoma|basaloid squamous carcinoma of esophagus|esophageal basaloid cancer|basaloid squamous carcinoma of the esophagus	http://purl.obolibrary.org/obo/MONDO_0004093	NCIT:C7032|DOID:7051|UMLS:C1333443	
HP:0005268	biolink:PhenotypicFeature	Miscarriage	A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy.	SNOMEDCT_US:17369002|UMLS:C0000786|MSH:D000022	mondo.json	Spontaneous abortion|Early fetal demise	http://purl.obolibrary.org/obo/HP_0005268		
MONDO:0004090	biolink:Disease	vulvar basaloid squamous cell carcinoma	A squamous cell carcinoma that arises from the vulva and is characterized by the presence of nests of malignant basaloid cells with a scant amount of cytoplasm.	DOID:7048|UMLS:C2211850|NCIT:C40286	mondo.json	vulvar basaloid carcinoma|vulvar basaloid squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004090	UMLS:C2211850|DOID:7048|NCIT:C40286	
NCBITaxon:200643	biolink:OrganismalEntity	Bacteroidia		GC_ID:11	mondo.json	Bacteroidetes	http://purl.obolibrary.org/obo/NCBITaxon_200643		
MONDO:0016089	biolink:Disease	infantile Krabbe disease		SCTID:238030005|Orphanet:206436	mondo.json	Krabbe disease, early-onset|Krabbe disease, classic form	http://purl.obolibrary.org/obo/MONDO_0016089	http://identifiers.org/snomedct/238030005|Orphanet:206436	ordo_clinical_subtype
MONDO:0016085	biolink:Disease	Cole-Carpenter syndrome	An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).	OMIMPS:112240|NCIT:C130985|MESH:C535963|UMLS:C1862178|DOID:0060438|GARD:0001425|Orphanet:2050	mondo.json	bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|Cole Carpenter syndrome	http://purl.obolibrary.org/obo/MONDO_0016085	DOID:0060438|http://identifiers.org/mesh/C535963|NCIT:C130985|https://omim.org/phenotypicSeries/PS112240|UMLS:C1862178|Orphanet:2050	ordo_malformation_syndrome
MONDO:0016086	biolink:Disease	osteochondritis of tarsal/metatarsal bone	A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls.	UMLS:C0158444|ICD9:732.5|Orphanet:2054|GARD:0006842|Orphanet:563991|SCTID:203392007|DOID:11760|UMLS:CN200840	mondo.json	Kohler's disease of the tarsal navicular|Kohler's Osteochondrosis of the tarsal navicular|juvenile osteochondrosis of foot|osteochondritis of tarsal/metatarsal bone|navicular Osteochondrosis|Kohler's disease|aseptic necrosis of the tarsal bone|Kohler disease|Osteochondrosis of the tarsal bone	http://purl.obolibrary.org/obo/MONDO_0016086	UMLS:CN200840|DOID:11760|http://identifiers.org/snomedct/203392007|Orphanet:563991|UMLS:C0158444	ordo_disease|gard_rare
MONDO:0016087	biolink:Disease	progressive non-infectious anterior vertebral fusion	Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features.	UMLS:C4304839|Orphanet:2062|SCTID:719268008|UMLS:CN200850	mondo.json	Copenhagen syndrome	http://purl.obolibrary.org/obo/MONDO_0016087	UMLS:CN200850|UMLS:C4304839|http://identifiers.org/snomedct/719268008|Orphanet:2062	ordo_malformation_syndrome
HP:0005262	biolink:PhenotypicFeature	Abnormality of the synovia		UMLS:C4025225	mondo.json		http://purl.obolibrary.org/obo/HP_0005262		
MONDO:0016088	biolink:Disease	hypoxanthine-guanine phosphoribosyltransferase deficiency	Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.	Orphanet:206428|ICD9:277.6|SCTID:124275001|GARD:0002943	mondo.json	HPRT1 deficiency|HPRT deficiency|hypoxanthine-guanine phosphoribosyltransferase 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0016088	Orphanet:206428|http://identifiers.org/snomedct/124275001	disease_grouping|ordo_group_of_disorders
MONDO:0016070	biolink:Disease	hereditary gingival fibromatosis	Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.	Orphanet:2024|OMIMPS:135300|UMLS:C0399440|SCTID:109620006|DOID:0060466	mondo.json	hereditary gingival hyperplasia|hereditary gingival fibromatosis|autosomal dominant gingival hyperplasia|autosomal dominant gingival fibromatosis	http://purl.obolibrary.org/obo/MONDO_0016070	DOID:0060466|Orphanet:2024|http://identifiers.org/snomedct/109620006|UMLS:C0399440|https://omim.org/phenotypicSeries/PS135300	ordo_malformation_syndrome
MONDO:0016071	biolink:Disease	juvenile hyaline fibromatosis	Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis.	ICD9:733.29|SCTID:238861002|NCIT:C98297|Orphanet:2028	mondo.json	Molluscum fibrosum|Murray-Puretic-Drescher syndrome|mesenchymal dysplasia|Puretic syndrome	http://purl.obolibrary.org/obo/MONDO_0016071	NCIT:C98297|Orphanet:2028|http://identifiers.org/snomedct/238861002	ordo_disease
MONDO:0016072	biolink:Disease	anomaly of puberty or/and menstrual cycle of genetic origin	An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome.	Orphanet:202940	mondo.json	genetic anomaly of puberty or/and menstrual cycle	http://purl.obolibrary.org/obo/MONDO_0016072	Orphanet:202940	ordo_group_of_disorders|disease_grouping
MONDO:0016073	biolink:Disease	syndromic microphthalmia	A microphthalmia that is part of a larger syndrome.	OMIMPS:309800|DOID:0080636|Orphanet:202948|UMLS:CN226833	mondo.json	syndromic microphthalmia|syndrome associated with microphthalmia|microphthalmia, syndromic	http://purl.obolibrary.org/obo/MONDO_0016073	DOID:0080636|UMLS:CN226833|https://omim.org/phenotypicSeries/PS309800|Orphanet:202948	ordo_group_of_disorders|disease_grouping
MONDO:0031689	biolink:Disease	obsolete genetic progeroid syndrome		ICD10CM:E34.8|Orphanet:363245	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031689	Orphanet:363245	
HGNC:26169	biolink:NamedThing	CTC1			mondo.json		http://identifiers.org/hgnc/26169		
HGNC:26162	biolink:NamedThing	PYROXD1			mondo.json		http://identifiers.org/hgnc/26162		
MONDO:0041008	biolink:Disease	obsolete contact dermatitis caused by poison oak		SCTID:200824008|UMLS:C0263283	mondo.json	contact dermatitis caused by poison oak|contact dermatitis due to poison oak	http://purl.obolibrary.org/obo/MONDO_0041008	http://identifiers.org/snomedct/200824008|UMLS:C0263283	
MONDO:0031697	biolink:Disease	obsolete genetic intractable diarrhea of infancy		Orphanet:363300	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031697	Orphanet:363300	
MONDO:0016078	biolink:Disease	congenital systemic arteriovenous fistula		Orphanet:2039	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016078	Orphanet:2039	ordo_morphological_anomaly
MONDO:0031698	biolink:Disease	obsolete genetic intestinal disease due to fat malabsorption		Orphanet:363306	mondo.json		http://purl.obolibrary.org/obo/MONDO_0031698	Orphanet:363306	
MONDO:0016079	biolink:Disease	sporadic Creutzfeldt-Jakob disease	Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD, and iatrogenic and variant CJD (vCJD).	SCTID:713060000|Orphanet:204|MedDRA:10011384|ICD9:046.19	mondo.json	sporadic CJD	http://purl.obolibrary.org/obo/MONDO_0016079	Orphanet:204|http://identifiers.org/snomedct/713060000	ordo_disease
CHR:9606-chr7p22	biolink:NamedThing	7p22 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr7p22		
MONDO:0016074	biolink:Disease	obsolete fibrosarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016074		
MONDO:0016075	biolink:Disease	filariasis	A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation.	NCIT:C34611|ICD10CM:B74|MedDRA:10016674|Orphanet:2034|MESH:D005368|SCTID:105706003|DOID:1080|UMLS:C0016085|ICD9:125.9	mondo.json	disease due to superfamily Filarioidea	http://purl.obolibrary.org/obo/MONDO_0016075	http://purl.bioontology.org/ontology/ICD10CM/B74|NCIT:C34611|DOID:1080|http://identifiers.org/mesh/D005368|UMLS:C0016085|http://identifiers.org/snomedct/105706003|Orphanet:2034	ordo_group_of_disorders|disease_grouping
MONDO:0016076	biolink:Disease	obsolete lymphatic filariasis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016076		
MONDO:0016077	biolink:Disease	congenital aortopulmonary window		UMLS:C2931610|Orphanet:2037|MESH:C537782|GARD:0000738	mondo.json	congenital aortopulmonary septal defect|congenital aortopulmonary artery fistula|aortopulmonary fistula|aorto-pulmonary artery fistula|aorta-pulmonary artery fistula	http://purl.obolibrary.org/obo/MONDO_0016077	http://identifiers.org/mesh/C537782|UMLS:C2931610|Orphanet:2037	ordo_morphological_anomaly
MONDO:0004119	biolink:Disease	obsolete endometrial small cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004119		
MONDO:0004118	biolink:Disease	cystitis cystica	A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by urothelial cells.	SCTID:13285005|DOID:7138|UMLS:C0152262|ICD9:595.81|NCIT:C96230	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004118	http://identifiers.org/snomedct/13285005|NCIT:C96230|DOID:7138|UMLS:C0152262	
HGNC:14270	biolink:NamedThing	PCDH19			mondo.json		http://identifiers.org/hgnc/14270		
MONDO:0006778	biolink:Disease	halo nevus	A benign melanocytic nevus with a halo appearance.	MESH:D055882|ICDO:8723/0|NCIT:C7602|EFO:1000958|MedDRA:10062794|UMLS:C0474824|ICD9:709.09|GARD:0009421|SCTID:398028009	mondo.json	leukoderma acquisitum Centrifugum of Sutton|halo nevi	http://purl.obolibrary.org/obo/MONDO_0006778	http://identifiers.org/mesh/D055882|http://identifiers.org/snomedct/398028009|NCIT:C7602|UMLS:C0474824	gard_rare
MONDO:0004115	biolink:Disease	obsolete gallbladder small cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004115		
MONDO:0006779	biolink:Disease	heart aneurysm	A localized bulging or dilatation in the muscle wall of a heart (myocardium), usually in the left ventricle. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are hematoma caused by myocardial rupture.	MESH:D006322|DOID:9768|SCTID:65340007|ICD9:414.19|MedDRA:10002350|EFO:1000959|ICD10CM:I25.3|ICD9:414.10|UMLS:C0018789	mondo.json	cardiac aneurysm	http://purl.obolibrary.org/obo/MONDO_0006779	http://purl.bioontology.org/ontology/ICD10CM/I25.3|http://identifiers.org/mesh/D006322|http://identifiers.org/snomedct/65340007|UMLS:C0018789|DOID:9768	
MONDO:0004114	biolink:Disease	urinary bladder small cell neuroendocrine carcinoma	A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ.	Orphanet:284400|NCIT:C9461|UMLS:C1332564|ONCOTREE:SCBC|EFO:1000129|DOID:7132|GARD:0011923|UMLS:CN202866	mondo.json	small cell carcinoma of the urinary bladder|SCCB|bladder small cell neuroendocrine carcinoma|small cell neuroendocrine carcinoma of urinary bladder|small cell bladder cancer|bladder small cell neuroendocrine cancer|small cell carcinoma of urinary bladder|poorly differentiated neuroendocrine carcinoma of the bladder|small cell bladder carcinoma|small cell carcinoma of the bladder|small cell neuroendocrine carcinoma of the urinary bladder|small cell/neuroendocrine carcinoma of urinary bladder|urinary bladder small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004114	UMLS:CN202866|NCIT:C9461|Orphanet:284400|UMLS:C1332564|DOID:7132	ordo_disease|gard_rare
MONDO:0004117	biolink:Disease	ampulla of vater small cell neuroendocrine carcinoma	An aggressive neuroendocrine carcinoma arising from the ampulla of Vater and the periampullary region. Morphologically, it is characterized by the presence of small malignant cells, necrosis, and a high mitotic rate. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.	NCIT:C6655|DOID:7136|UMLS:C1332250	mondo.json	small cell neuroendocrine carcinoma of the ampullary region|ampulla of Vater small cell NEC|hepatopancreatic ampulla small cell carcinoma|ampulla of Vater small cell neuroendocrine carcinoma|ampullary small cell carcinoma|ampulla of Vater small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004117	UMLS:C1332250|NCIT:C6655|DOID:7136	
MONDO:0006776	biolink:Disease	obsolete hairy cell leukemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006776		
MONDO:0004116	biolink:Disease	esophageal small cell neuroendocrine carcinoma	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. It is characterized by the presence of malignant small cells.	UMLS:C1112474|NCIT:C6762|DOID:7134	mondo.json	esophageal small cell neuroendocrine carcinoma|esophageal small cell NEC|Oat cell carcinoma of the esophagus|esophagus small cell carcinoma|esophagus Oat cell carcinoma|small cell carcinoma, esophagus|esophageal Oat cell carcinoma|Oat cell carcinoma of esophagus|small cell carcinoma of the esophagus|small cell carcinoma of esophagus|esophageal small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004116	NCIT:C6762|UMLS:C1112474|DOID:7134	
MONDO:0006777	biolink:Disease	hairy tongue	A benign condition affecting the dorsum of the tongue. It is characterized by defective desquamation resulting in elongation of the filiform papillae. The dorsum of the tongue has a furry appearance and is usually stained black.	UMLS:C0040414|SCTID:255225007|ICD9:529.8|EFO:1000957|DOID:13500|MedDRA:10043960|NCIT:C35075|MESH:D014064	mondo.json	hairy Tongues|Tongues, hairy|overgrowth of filiform papillae|hairy tongue	http://purl.obolibrary.org/obo/MONDO_0006777	DOID:13500|UMLS:C0040414|http://identifiers.org/snomedct/255225007|http://identifiers.org/mesh/D014064|NCIT:C35075	
MONDO:0004111	biolink:Disease	refractory hematologic cancer	A hematologic malignancy that is resistant to treatment.	UMLS:C1335724|DOID:712|NCIT:C27357	mondo.json	refractory hematologic malignancy|refractory hematologic cancer	http://purl.obolibrary.org/obo/MONDO_0004111	DOID:712|NCIT:C27357|UMLS:C1335724	
MONDO:0006774	biolink:Disease	habitual spontaneous abortion	Three or more consecutive spontaneous abortions.	MESH:D000026|EFO:1000954|SCTID:102878001|MedDRA:10062935	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006774	http://identifiers.org/snomedct/102878001|http://identifiers.org/mesh/D000026	
MONDO:0004110	biolink:Disease	refractory hairy cell leukemia	Hairy cell leukemia that is resistant to treatment.	NCIT:C8030|UMLS:C0279780|DOID:711	mondo.json	hairy cell leukemia, refractory|refractory hairy cell leukemia	http://purl.obolibrary.org/obo/MONDO_0004110	NCIT:C8030|UMLS:C0279780|DOID:711	
MONDO:0006775	biolink:Disease	obsolete haemophilus influenzae meningitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006775		
MONDO:0004113	biolink:Disease	obsolete HCL-v			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004113		
CHEBI:36902	biolink:ChemicalSubstance	chalcogen hydride			mondo.json	chalcogen hydrides|chalcogen hydride	http://purl.obolibrary.org/obo/CHEBI_36902		
MONDO:0006772	biolink:Disease	obsolete glycogen storage disease VIII			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006772		
MONDO:0006773	biolink:Disease	gonadal tissue neoplasm	Neoplasms composed of tissues of the ovary or the testis, not neoplasms located in the ovaries or testes. Gonadal tissues include germ cells, cells from the sex cord, and gonadal stromal cells.	UMLS:C0206722|EFO:1000953|MESH:D018309	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006773	UMLS:C0206722|http://identifiers.org/mesh/D018309	
MONDO:0004112	biolink:Disease	radiation cystitis	Inflammation of the bladder due to irradiation.	NCIT:C123174|DOID:7127|UMLS:C0156270|SCTID:11251000|ICD9:595.82|ICD10CM:N30.4	mondo.json	irradiation cystitis	http://purl.obolibrary.org/obo/MONDO_0004112	http://purl.bioontology.org/ontology/ICD10CM/N30.4|UMLS:C0156270|http://identifiers.org/snomedct/11251000|NCIT:C123174|DOID:7127	
MONDO:0006770	biolink:Disease	giant cell reparative granuloma	A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure.	DOID:1866|SCTID:15350006|UMLS:C0162375|NCIT:C121893|EFO:1000950|ICD9:526.3|MESH:D006101	mondo.json	central giant cell (reparative) granuloma|central giant cell reparative granuloma of jaw|GCLSB|giant cell lesion of small bones|central giant cell granuloma	http://purl.obolibrary.org/obo/MONDO_0006770	http://identifiers.org/mesh/D006101|http://identifiers.org/snomedct/15350006|DOID:1866|UMLS:C0162375|NCIT:C121893	
CHEBI:36908	biolink:ChemicalSubstance	argon molecular entity			mondo.json	argon molecular entity|argon compounds|argon molecular entities	http://purl.obolibrary.org/obo/CHEBI_36908		
MONDO:0006771	biolink:Disease	glossitis	Inflammation of the tongue.	SCTID:45534005|DOID:1456|ICD10CM:K14.0|UMLS:C0017675|ICD9:529.0|EFO:1000951|MedDRA:10018386|MESH:D005928	mondo.json	inflammation of tongue|tongue inflammation	http://purl.obolibrary.org/obo/MONDO_0006771	DOID:1456|UMLS:C0017675|http://purl.bioontology.org/ontology/ICD10CM/K14.0|http://identifiers.org/mesh/D005928|http://identifiers.org/snomedct/45534005	
HGNC:26257	biolink:NamedThing	PDZD7			mondo.json		http://identifiers.org/hgnc/26257		
MONDO:0016108	biolink:Disease	autosomal dominant distal myopathy	Autosomal dominant form of distal myopathy.	UMLS:CN229018|Orphanet:206650	mondo.json	distal myopathy, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0016108	Orphanet:206650|UMLS:CN229018	disease_grouping|ordo_group_of_disorders
OBO:ECTO_9001655	biolink:NamedThing	exposure to cofactor	An exposure to cofactor.		mondo.json	exposure to cofactor	http://purl.obolibrary.org/obo/ECTO_9001655		
MONDO:0016109	biolink:Disease	autosomal recessive distal myopathy	Autosomal recessive form of distal myopathy.	UMLS:CN229019|Orphanet:206653	mondo.json	distal myopathy, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016109	UMLS:CN229019|Orphanet:206653	disease_grouping|ordo_group_of_disorders
MONDO:0018767	biolink:Disease	severe primary trimethylaminuria	Any trimethylaminuria in which the cause of the disease is a mutation in the FMO3 gene.	Orphanet:468726|HP:0003614|GARD:0006447|DOID:0080361|OMIM:602079|MESH:C536561	mondo.json	TMAU|fish-odor syndrome|trimethylaminuria|stale fish syndrome|fish odor syndrome|TMAuria|fish malodor syndrome	http://purl.obolibrary.org/obo/MONDO_0018767	DOID:0080361|http://identifiers.org/mesh/C536561|https://omim.org/entry/602079|Orphanet:468726	ordo_disease
MONDO:0016104	biolink:Disease	obsolete infectious disease with peripheral neuropathy	OBSOLETE. An infectious process affecting the peripheral nerves.	UMLS:C1278821|Orphanet:206613|NCIT:C27589	mondo.json	peripheral nerve infection|peripheral nervous system infectious disorder	http://purl.obolibrary.org/obo/MONDO_0016104	UMLS:C1278821|Orphanet:206613|NCIT:C27589	ordo_group_of_disorders
MONDO:0016105	biolink:Disease	acquired skeletal muscle disease	An instance of skeletal muscle disease that is acquired during the lifetime of the individual.	Orphanet:206638|UMLS:CN200878	mondo.json	acquired skeletal muscle disease	http://purl.obolibrary.org/obo/MONDO_0016105	UMLS:CN200878|Orphanet:206638	disease_grouping|ordo_group_of_disorders
MONDO:0018766	biolink:Disease	chronic enteropathy associated with SLCO2A1 gene		Orphanet:468641	mondo.json	CEAS	http://purl.obolibrary.org/obo/MONDO_0018766	Orphanet:468641	ordo_disease
MONDO:0018769	biolink:Disease	isosporiasis	An intestinal infection with Isospora belli.	NCIT:C4076|ICD10CM:A07.3|SCTID:371423007|DOID:2112|MedDRA:10023076|UMLS:C0311386|EFO:0007232|Orphanet:472|MESH:D021865|GARD:0003033	mondo.json	Cystoisospora belli disease or disorder|Isosporosis|cystoisosporiasis|Cystoisospora belli infectious disease|Cystoisospora belli caused disease or disorder|infection by Isospora belli and Isospora hominis	http://purl.obolibrary.org/obo/MONDO_0018769	Orphanet:472|http://identifiers.org/snomedct/371423007|DOID:2112|UMLS:C0311386|NCIT:C4076|http://identifiers.org/mesh/D021865|http://purl.bioontology.org/ontology/ICD10CM/A07.3	ordo_disease
MONDO:0016106	biolink:Disease	progressive muscular dystrophy		UMLS:CN241791|GARD:0012583|Orphanet:206644	mondo.json	progressive muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0016106	UMLS:CN241791|Orphanet:206644	disease_grouping|ordo_group_of_disorders
MONDO:0016107	biolink:Disease	myotonic dystrophy	An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies.	NCIT:C84914|SCTID:240104008|Orphanet:206647|MedDRA:10068871|OMIMPS:160900|MESH:D009223|GARD:0010419|UMLS:C0027126|ICD9:359.2|DOID:450	mondo.json	myotonia dystrophica|inherited myotonic dystrophy|myotonic disease|myotonia atrophica	http://purl.obolibrary.org/obo/MONDO_0016107	http://identifiers.org/snomedct/240104008|http://identifiers.org/mesh/D009223|DOID:450|Orphanet:206647|https://omim.org/phenotypicSeries/PS160900|NCIT:C84914|UMLS:C0027126	ordo_group_of_disorders|disease_grouping
MONDO:0018768	biolink:Disease	familial cold autoinflammatory syndrome	Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.	UMLS:C0343068|OMIMPS:120100|MedDRA:10064570|DOID:0090061|GARD:0009535|UMLS:CN230757|NCIT:C119053|Orphanet:47045	mondo.json	familial cold urticaria|familial cold autoinflammatory syndrome|FCU|familial polymorphous cold eruption|FCAS	http://purl.obolibrary.org/obo/MONDO_0018768	UMLS:C0343068|UMLS:CN230757|https://omim.org/phenotypicSeries/PS120100|DOID:0090061|Orphanet:47045|NCIT:C119053	ordo_disease
MONDO:0016100	biolink:Disease	rippling muscle disease with myasthenia gravis		UMLS:CN200870|Orphanet:206575	mondo.json	immune-mediated rippling muscle disease|acquired rippling muscle disease|Rmd-MG	http://purl.obolibrary.org/obo/MONDO_0016100	UMLS:CN200870|Orphanet:206575	ordo_disease
MONDO:0018763	biolink:Disease	Tubulinopathy-associated dysgyria		UMLS:CN242152|Orphanet:467166	mondo.json	brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0018763	Orphanet:467166|UMLS:CN242152	ordo_disease
MONDO:0016101	biolink:Disease	neurolymphomatosis	A transmissible viral disease of birds caused by avian herpesvirus 2 (herpesvirus 2, gallid) and other mardivirus. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye.	SCTID:766752000|UMLS:C0024793|MESH:D000077162|GARD:0006974|Orphanet:206586|MESH:D008380	mondo.json	fowl paralyses|Marek disease|fowl paralysis|Marek's disease	http://purl.obolibrary.org/obo/MONDO_0016101	http://identifiers.org/mesh/D008380|UMLS:C0024793|http://identifiers.org/mesh/D000077162|Orphanet:206586|http://identifiers.org/snomedct/766752000	ordo_disease
MONDO:0018762	biolink:Disease	non-acquired combined pituitary hormone deficiency	Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.	Orphanet:467|ICD10CM:E23.0	mondo.json	congenital combined pituitary hormone deficiency|congenital hypopituitarism	http://purl.obolibrary.org/obo/MONDO_0018762	Orphanet:467	ordo_group_of_disorders|disease_grouping
MONDO:0018765	biolink:Disease	cryptogenic multifocal ulcerous stenosing enteritis		UMLS:C4302263|Orphanet:468635|SCTID:722849002	mondo.json	CMUSE	http://purl.obolibrary.org/obo/MONDO_0018765	UMLS:C4302263|http://identifiers.org/snomedct/722849002|Orphanet:468635	ordo_disease
MONDO:0016102	biolink:Disease	subacute inflammatory demyelinating polyneuropathy	A subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barre syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP).	UMLS:C0456517|Orphanet:206594|SCTID:277189006	mondo.json	SIDP|subacute inflammatory demyelinating polyradiculoneuropathy	http://purl.obolibrary.org/obo/MONDO_0016102	http://identifiers.org/snomedct/277189006|Orphanet:206594|UMLS:C0456517	ordo_disease
MONDO:0016103	biolink:Disease	isolated asymptomatic elevation of creatine phosphokinase	Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle.	DOID:0111338|Orphanet:206599|NCIT:C148327	mondo.json	isolated asymptomatic hyperCKemia|idiopathic asymptomatic hyperCKemia|hyperCKmia|isolated hyperCKemia	http://purl.obolibrary.org/obo/MONDO_0016103	DOID:0111338|Orphanet:206599|NCIT:C148327	ordo_biological_anomaly
MONDO:0018764	biolink:Disease	microcephalic primordial dwarfism due to RTTN deficiency	Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported.	OMIM:614833|Orphanet:468631	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018764	https://omim.org/entry/614833|Orphanet:468631	ordo_malformation_syndrome
CHR:9606-chr7q11	biolink:NamedThing	7q11 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr7q11		
MONDO:0018761	biolink:Disease	SMARCA4-deficient sarcoma of thorax		Orphanet:466962|DOID:0080532|UMLS:CN242100	mondo.json	SMARCA4-deficient thoracic sarcoma	http://purl.obolibrary.org/obo/MONDO_0018761	Orphanet:466962|UMLS:CN242100|DOID:0080532	ordo_disease
MONDO:0018760	biolink:Disease	DeSanto-Shinawi syndrome		UMLS:CN242159|Orphanet:466943	mondo.json	WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome	http://purl.obolibrary.org/obo/MONDO_0018760	Orphanet:466943|UMLS:CN242159	ordo_malformation_syndrome
MONDO:0004129	biolink:Disease	cloacogenic carcinoma	An anal carcinoma arising from the transitional zone of the anal canal.	DOID:7173|ICDO:8124/3|NCIT:C8255|MESH:C563020	mondo.json	cloacogenic carcinoma of the anus|anal canal cloacogenic carcinoma|cloacogenic carcinoma (morphologic abnormality)|anal canal cloacogenic cancer|anal cloacogenic carcinoma|cloacogenic anal carcinoma|cloacogenic carcinoma of anus	http://purl.obolibrary.org/obo/MONDO_0004129	NCIT:C8255|http://identifiers.org/mesh/C563020|DOID:7173	
HGNC:14282	biolink:NamedThing	IRF2BPL			mondo.json		http://identifiers.org/hgnc/14282		
MONDO:0004126	biolink:Disease	thyroiditis	Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis.	HP:0100646|ICD9:245.9|NCIT:C26894|ICD9:245|UMLS:C0040147|DOID:7166|MESH:D013966|SCTID:82119001	mondo.json	thyroid gland inflammation|thyroiditis|thyroiditis (disease)|inflammation of thyroid gland	http://purl.obolibrary.org/obo/MONDO_0004126	http://identifiers.org/snomedct/82119001|http://identifiers.org/mesh/D013966|UMLS:C0040147|NCIT:C26894|DOID:7166	
MONDO:0006789	biolink:Disease	hyperamylasemia	Abnormally high level of amylase in the blood.	MedDRA:10062777|EFO:1000969|MESH:D034321	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006789	http://identifiers.org/mesh/D034321	
MONDO:0004125	biolink:Disease	rectum leiomyoma	A well-circumscribed benign smooth muscle neoplasm arising from the rectum. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOID:7160|NCIT:C5552|UMLS:C1335682	mondo.json	leiomyoma of rectum|leiomyoma of the rectum|rectum leiomyoma|rectal leiomyoma	http://purl.obolibrary.org/obo/MONDO_0004125	NCIT:C5552|DOID:7160|UMLS:C1335682	
MONDO:0006787	biolink:Disease	hidrocystoma	A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative.	ICDO:8404/0|DOID:3893|SCTID:254725004|MESH:D018251|MedDRA:10059019|EFO:1000967|UMLS:C0206672|ICD9:709.8|NCIT:C3760	mondo.json	hidrocystoma (morphologic abnormality)|eccrine hidrocystoma of skin|apocrine/eccrine hidrocystoma|eccrine cystadenoma|hidrocystoma|Hydrocystoma|apocrine cystadenoma|cystadenoma	http://purl.obolibrary.org/obo/MONDO_0006787	UMLS:C0206672|http://identifiers.org/snomedct/254725004|http://identifiers.org/mesh/D018251|DOID:3893|NCIT:C3760	
MONDO:0004128	biolink:Disease	lung occult large cell carcinoma	A large cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.	NCIT:C6685|DOID:7169|UMLS:C1335095	mondo.json	occult large cell lung carcinoma|occult large cell carcinoma of lung|occult large cell carcinoma of the lung	http://purl.obolibrary.org/obo/MONDO_0004128	NCIT:C6685|UMLS:C1335095|DOID:7169	
MONDO:0004127	biolink:Disease	lung occult adenocarcinoma	A lung adenocarcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.	NCIT:C6699|DOID:7168|UMLS:C1335096	mondo.json	occult lung adenocarcinoma|occult adenocarcinoma of the lung|occult adenocarcinoma of lung	http://purl.obolibrary.org/obo/MONDO_0004127	NCIT:C6699|UMLS:C1335096|DOID:7168	
MONDO:0006788	biolink:Disease	hydrophthalmos	Abnormal enlargement of the eye	EFO:1000968|DOID:11212|MESH:D006871|ICD9:743.20|ICD9:743.2	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006788	DOID:11212|http://identifiers.org/mesh/D006871	
MONDO:0004122	biolink:Disease	thymus small cell carcinoma	An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies.	NCIT:C6460|UMLS:C1335980|DOID:7142|EFO:1000578	mondo.json	thymic small cell carcinoma neuroendocrine type|small cell carcinoma of the Thymus|thymic small cell carcinoma|small cell carcinoma of Thymus|small cell carcinoma of thymus|thymus small cell carcinoma|Thymus small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004122	NCIT:C6460|DOID:7142|UMLS:C1335980	
MONDO:0006785	biolink:Disease	obsolete Henoch-Schoenlein purpura			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006785		
CHEBI:36915	biolink:ChemicalSubstance	inorganic cation			mondo.json	inorganic cations	http://purl.obolibrary.org/obo/CHEBI_36915		
MONDO:0006786	biolink:Disease	hepatic vein thrombosis	A condition in which the hepatic venous outflow is obstructed anywhere from the small hepatic veins to the junction of the inferior vena cava and the right atrium. Usually the blockage is extrahepatic and caused by blood clots (thrombus) or fibrous webs. Parenchymal fibrosis is uncommon.	SCTID:38739001|ICD10CM:I82.0|DOID:11512|MedDRA:10006537|MESH:D006502|SCTID:82385007|EFO:1000966|MedDRA:10019713|ICD9:453.0	mondo.json	hepatic vein thrombosis|Budd-Chiari syndrome	http://purl.obolibrary.org/obo/MONDO_0006786	http://identifiers.org/snomedct/38739001|DOID:11512	
CHEBI:36916	biolink:ChemicalSubstance	cation	A monoatomic or polyatomic species having one or more elementary charges of the proton.		mondo.json	cations|cationes|Kation|Cation|cation|Kationen	http://purl.obolibrary.org/obo/CHEBI_36916		
MONDO:0004121	biolink:Disease	obsolete prostate small cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004121		
MONDO:0004124	biolink:Disease	prostate stromal sarcoma	A rare malignant neoplasm arising from specialized prostatic stroma. It is characterized by the presence of stromal overgrowth and hypercellularity, increased number of mitotic figures, and pleomorphism.	NCIT:C5524|DOID:7152|UMLS:C1335521	mondo.json	stromal sarcoma of prostate|prostate stromal sarcoma|stromal sarcoma of the prostate	http://purl.obolibrary.org/obo/MONDO_0004124	NCIT:C5524|UMLS:C1335521|DOID:7152	
MONDO:0006783	biolink:Disease	hemopneumothorax	Collection of air and blood in the pleural cavity.	ICD9:511.89|UMLS:C0019077|SCTID:16632002|EFO:1000963|DOID:2718|MedDRA:10060632|MESH:D006468	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006783	UMLS:C0019077|http://identifiers.org/mesh/D006468|DOID:2718|http://identifiers.org/snomedct/16632002	
MONDO:0043731	biolink:Disease	lytic metastatic bone lesion	Dissolution of bone that particularly involves the removal or loss of calcium.	EFO:1001821|MESH:D010014|SCTID:203522001|NCIT:C35371	mondo.json	osteolytic lesion|osteolysis|Osteolyses|lytic metastatic bone lesion	http://purl.obolibrary.org/obo/MONDO_0043731	NCIT:C35371|http://identifiers.org/mesh/D010014|http://identifiers.org/snomedct/203522001	
CHEBI:36914	biolink:ChemicalSubstance	inorganic ion			mondo.json	inorganic ions	http://purl.obolibrary.org/obo/CHEBI_36914		
MONDO:0006784	biolink:Disease	hemorrhagic disease of newborn	A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver.	ICD9:776.0|ICD10CM:P53|MESH:D006475|SCTID:12546009|NCIT:C111857|MedDRA:10019601|EFO:1000964	mondo.json	hemorrhagic disease of newborn|vitamin K deficiency bleeding in newborn	http://purl.obolibrary.org/obo/MONDO_0006784	http://identifiers.org/mesh/D006475|http://purl.bioontology.org/ontology/ICD10CM/P53|NCIT:C111857|http://identifiers.org/snomedct/12546009	
MONDO:0004123	biolink:Disease	obsolete laryngeal small cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004123		
HGNC:26262	biolink:NamedThing	TTI2			mondo.json		http://identifiers.org/hgnc/26262		
MONDO:0006781	biolink:Disease	Helicobacter pylori infectious disease	Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease.	EFO:1000961|MESH:D016481	mondo.json	Helicobacter pylori disease or disorder|infection, Helicobacter|Helicobacter pylori infection, susceptibility to|infections, Helicobacter|Helicobacter pylori caused disease or disorder|Helicobacter infection	http://purl.obolibrary.org/obo/MONDO_0006781	http://identifiers.org/mesh/D016481	
MONDO:0006782	biolink:Disease	hemometra	Blood-filled uterus.	ICD10CM:N85.7|DOID:9958|EFO:1000962|ICD9:621.4|SCTID:38280009|MESH:D006409	mondo.json	hematometra	http://purl.obolibrary.org/obo/MONDO_0006782	http://identifiers.org/mesh/D006409|DOID:9958|http://purl.bioontology.org/ontology/ICD10CM/N85.7|http://identifiers.org/snomedct/38280009	
MONDO:0004120	biolink:Disease	Bartholin gland small cell carcinoma	A rare neuroendocrine carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant small cells and high mitotic activity.	NCIT:C40298|UMLS:C1511051|DOID:7140	mondo.json	small cell carcinoma of major vestibular gland|Bartholin gland small cell carcinoma|Bartholin's gland small cell carcinoma|major vestibular gland small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004120	UMLS:C1511051|DOID:7140|NCIT:C40298	
HGNC:26267	biolink:NamedThing	POMK			mondo.json		http://identifiers.org/hgnc/26267		
MONDO:0006780	biolink:Disease	heartwater disease	A tick-borne septicemic disease of domestic and wild ruminants caused by ehrlichia ruminantium.	MESH:D006357|UMLS:C0018835|EFO:1000960	mondo.json	disease, heartwater	http://purl.obolibrary.org/obo/MONDO_0006780	http://identifiers.org/mesh/D006357|UMLS:C0018835	
MONDO:0043726	biolink:Disease	multiple organ dysfunction syndrome	The development of potentially reversible physiologic derangement involving two or more organ systems not involved in the disorder that resulted in intensive care unit (ICU) admission, and arising in the wake of a potentially life-threatening physiologic insult.	MESH:D009102|SCTID:57653000	mondo.json	multisystem organ failure|multiple organ dysfunction syndrome|failure, multiple organ|organ failure, multiple|multiple organ failure|multiple organ systems failure|multiple systems organ failure|organ dysfunction syndrome, multiple|multiple organ system failure|MODS|multiple organ failures|multi-organ failure|multiorgan failure	http://purl.obolibrary.org/obo/MONDO_0043726	http://identifiers.org/snomedct/57653000|http://identifiers.org/mesh/D009102	
MONDO:0018759	biolink:Disease	childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome		Orphanet:466921|UMLS:CN776870	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018759	Orphanet:466921|UMLS:CN776870	ordo_disease
MONDO:0043723	biolink:Disease	Monteggia's fracture	Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius.	EFO:1001373|MESH:D009011|SCTID:123973009	mondo.json	Monteggia fracture|monteggia fracture dislocation|fracture, Monteggia's|monteggia fracture|Monteggias fracture|monteggia's fracture|monteggia's dislocation	http://purl.obolibrary.org/obo/MONDO_0043723	http://identifiers.org/mesh/D009011|http://identifiers.org/snomedct/123973009	
MONDO:0018756	biolink:Disease	euthyroid Graves orbitopathy		Orphanet:466682	mondo.json	euthyroid Graves ophthalmopathy	http://purl.obolibrary.org/obo/MONDO_0018756	Orphanet:466682	ordo_disease
MONDO:0018755	biolink:Disease	scorpion envenomation	Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema.	Orphanet:466677|SCTID:217670007|UMLS:CN242103	mondo.json	poisoning caused by scorpion venom|toxic effect of venom of scorpion|poisoning due to scorpion venom	http://purl.obolibrary.org/obo/MONDO_0018755	UMLS:CN242103|Orphanet:466677|http://identifiers.org/snomedct/217670007	ordo_disease
MONDO:0018758	biolink:Disease	familial patent arterial duct	Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities.	UMLS:CN242171|Orphanet:466729	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018758	UMLS:CN242171|Orphanet:466729	ordo_morphological_anomaly
MONDO:0018757	biolink:Disease	supratip dysplasia	Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected.	Orphanet:466695	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018757	Orphanet:466695	ordo_morphological_anomaly
MONDO:0018752	biolink:Disease	exercise-induced malignant hyperthermia		SCTID:735907005|Orphanet:466650	mondo.json	Exertional heat stroke	http://purl.obolibrary.org/obo/MONDO_0018752	Orphanet:466650|http://identifiers.org/snomedct/735907005	ordo_disease
HGNC:14287	biolink:NamedThing	NLGN4X			mondo.json		http://identifiers.org/hgnc/14287		
MONDO:0018751	biolink:Disease	genetic otorhinolaryngologic disease	An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome.	UMLS:CN242186|Orphanet:466084	mondo.json	genetic otorhinolaryngologic disease	http://purl.obolibrary.org/obo/MONDO_0018751	Orphanet:466084|UMLS:CN242186	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0018754	biolink:Disease	cyanide poisoning		UMLS:CN242145|SCTID:66207005|Orphanet:466670|ICD9:989.0	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018754	UMLS:CN242145|Orphanet:466670|http://identifiers.org/snomedct/66207005	ordo_clinical_situation
HGNC:14289	biolink:NamedThing	NLGN3			mondo.json		http://identifiers.org/hgnc/14289		
MONDO:0018753	biolink:Disease	obsolete rare disease with malignant hyperthermia		UMLS:CN242072|Orphanet:466658	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018753	UMLS:CN242072|Orphanet:466658	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0018750	biolink:Disease	obsolete class I glucose-6-phosphate dehydrogenase deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018750		
MONDO:0006758	biolink:Disease	female genital tuberculosis	Mycobacterium infections of the female reproductive tract (genitalia, female).	MedDRA:10061150|MESH:D014384|SCTID:74181004|EFO:1000935	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006758	http://identifiers.org/mesh/D014384|http://identifiers.org/snomedct/74181004	
MONDO:0006759	biolink:Disease	femoral neuropathy	Neuropathy of the femoral nerve.	NCIT:C27595|MESH:D020428|SCTID:25690000|ICD9:355.2|UMLS:C0751931|EFO:1000936|DOID:4196	mondo.json	peripheral nerve lesion of femoral nerve|femoral nerve dysfunction|femoral nerve lesions|femoral nerve peripheral nerve lesion	http://purl.obolibrary.org/obo/MONDO_0006759	http://identifiers.org/mesh/D020428|DOID:4196|http://identifiers.org/snomedct/25690000|UMLS:C0751931|NCIT:C27595	
MONDO:0006756	biolink:Disease	obsolete extracutaneous mastocytoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006756		
MONDO:0006757	biolink:Disease	extrahepatic cholestasis	Impairment of the bile flow caused by an obstruction in the portion of the bile duct system located outside of the liver.	UMLS:C0005398|SCTID:8262006|DOID:13619|MESH:D001651|MedDRA:10008637|EFO:1000933	mondo.json	extrahepatic bile duct cholestasis|extrahepatic biliary stasis|extrahepatic cholestasis (finding)|cholestasis of extrahepatic bile duct|extrahepatic obstructive biliary disease	http://purl.obolibrary.org/obo/MONDO_0006757	http://identifiers.org/snomedct/8262006|http://identifiers.org/mesh/D001651|DOID:13619|UMLS:C0005398	
MONDO:0006754	biolink:Disease	esophageal diverticulosis	A pathological condition characterized by the presence of a number of esophageal diverticula in the esophagus.	EFO:1000930|MESH:D045723|UMLS:C0917875|DOID:13185	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006754	http://identifiers.org/mesh/D045723|UMLS:C0917875|DOID:13185	
MONDO:0006755	biolink:Disease	euthyroid sick syndrome	Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness.	EFO:1000931|MESH:D005067|UMLS:C0015190|NCIT:C113170|SCTID:237542005|DOID:2856|MedDRA:10015549|ICD9:790.94|ICD10CM:E07.81	mondo.json	euthyroid sick syndrome|sick-euthyroid syndrome|sick euthyroid syndrome	http://purl.obolibrary.org/obo/MONDO_0006755	http://identifiers.org/snomedct/237542005|NCIT:C113170|http://identifiers.org/mesh/D005067|http://purl.bioontology.org/ontology/ICD10CM/E07.81|DOID:2856|UMLS:C0015190	
MONDO:0006752	biolink:Disease	Erysipelothrix rhusiopathiae infectious disease	A disease caused by infection with Erysipelothrix rhusiopathiae.	MESH:D004887|SCTID:400105005|EFO:1000928|UMLS:C1276801|ICD10CM:A26|DOID:0050061	mondo.json	erysipeloid|Erysipelothrix rhusiopathiae caused disease or disorder|Erysipelothrix rhusiopathiae disease or disorder	http://purl.obolibrary.org/obo/MONDO_0006752	DOID:0050061|http://purl.bioontology.org/ontology/ICD10CM/A26|UMLS:C1276801|http://identifiers.org/mesh/D004887|http://identifiers.org/snomedct/400105005	
MONDO:0006753	biolink:Disease	Escherichia coli meningitis	A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as opportunistic infections in association with immunologic deficiency syndromes. In premature neonates the clinical presentation may be limited to anorexia; vomiting; lethargy; or respiratory distress. Full-term infants may have as additional features fever; seizures; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)	ICD9:320.7|MESH:D020814|EFO:1000929|SCTID:192655005|UMLS:C0338395|ICD9:320.82	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006753	http://identifiers.org/mesh/D020814|http://identifiers.org/snomedct/192655005|UMLS:C0338395	
MONDO:0006750	biolink:Disease	obsolete Erdheim-Chester disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006750		
HGNC:26230	biolink:NamedThing	TM4SF20			mondo.json		http://identifiers.org/hgnc/26230		
MONDO:0006751	biolink:Disease	Erysipelothrix infectious disease	Infections with bacteria of the genus erysipelothrix.	SCTID:367434002|EFO:1000927|MESH:D004889|UMLS:C0014736	mondo.json	Erysipelothrix caused disease or disorder|Erysipelothrix disease or disorder|infection, Erysipelothrix|infections, Erysipelothrix|Erysipelothrix infection	http://purl.obolibrary.org/obo/MONDO_0006751	UMLS:C0014736|http://identifiers.org/snomedct/367434002|http://identifiers.org/mesh/D004889	
UBERON:0003395	biolink:AnatomicalEntity	mesentery of rectum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003395		
MONDO:0018749	biolink:Disease	hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.	HGNC:3627|OMIM:141749|OMIM:142470|OMIM:613566|UMLS:CN205122|Orphanet:46532|HGNC:5153	mondo.json	HPFH-beta-thalassemia syndrome	http://purl.obolibrary.org/obo/MONDO_0018749	Orphanet:46532|UMLS:CN205122	ordo_disease
MONDO:0018748	biolink:Disease	linear IgA Dermatosis	Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin).	MedDRA:10024515|SCTID:95330001|GARD:0010960|UMLS:C0406650|MESH:D062027|Orphanet:46488	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018748	Orphanet:46488|UMLS:C0406650|http://identifiers.org/snomedct/95330001|http://identifiers.org/mesh/D062027	ordo_disease
UBERON:0003396	biolink:AnatomicalEntity	mesentery of colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003396		
UBERON:0003393	biolink:AnatomicalEntity	mesentery of urinary system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003393		
UBERON:0003394	biolink:AnatomicalEntity	mesentery of hindgut			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003394		
MONDO:0018745	biolink:Disease	superficial pemphigus	Pemphigus is a group of chronic autoimmune skin diseases characterised by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, one of which is superficial pemphigus, including the seborrheic, erythematosus, foliaceous and herpetiform variants.	UMLS:CN227541|Orphanet:46485	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018745	Orphanet:46485|UMLS:CN227541	disease_grouping|ordo_group_of_disorders
HGNC:14258	biolink:NamedThing	CD2AP			mondo.json		http://identifiers.org/hgnc/14258		
MONDO:0018744	biolink:Disease	oligodendroglial tumor	Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas).	Orphanet:46484|NCIT:C6960|UMLS:CN205116|UMLS:C1335110	mondo.json	oligodendroglial tumor|oligodendroglial neoplasm	http://purl.obolibrary.org/obo/MONDO_0018744	Orphanet:46484|UMLS:CN205116|UMLS:C1335110|NCIT:C6960	disease_grouping|ordo_group_of_disorders
MONDO:0018747	biolink:Disease	acquired epidermolysis bullosa	Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB.	ICD9:695.19|GARD:0006360|DOID:4313|UMLS:C0079293|Orphanet:46487|EFO:1000691|MedDRA:10056508|MESH:D016107|ICD10CM:L12.3|NCIT:C84690|SCTID:2772003	mondo.json	epidermolysis bullosa acquisita|epidermolysis bullosa Aquisita|EBA|acquired epidermolysis bullosa|EB acquisita	http://purl.obolibrary.org/obo/MONDO_0018747	Orphanet:46487|http://identifiers.org/snomedct/2772003|http://purl.bioontology.org/ontology/ICD10CM/L12.3|DOID:4313|UMLS:C0079293|http://identifiers.org/mesh/D016107|NCIT:C84690	gard_rare|ordo_disease
MONDO:0018746	biolink:Disease	mucous membrane pemphigoid	Mucous membrane pemphigoid is a bullous dermatosis characterised clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane.	NCIT:C34907|GARD:0005913|SCTID:76092003|DOID:11656|EFO:1000680|ICD9:694.6|ICD9:694.61|MedDRA:10057052|Orphanet:46486|SCTID:34250006	mondo.json	ocular pemphigoid|Mucosynechial pemphigoid|benign mucous Membrane pemphigoid|benign mucosal pemphigoid|ocular pemphigus|cicatricial pemphigoid|benign mucous membrane pemphigoid|benign mucous membrance pemphigoid|cicatricial pemphigoid with ocular involvement|benign mucous membrane pemphigoid with ocular involvement|mucosal pemphigoid	http://purl.obolibrary.org/obo/MONDO_0018746	Orphanet:46486|http://identifiers.org/snomedct/76092003|NCIT:C34907|DOID:11656	ordo_disease
MONDO:0043735	biolink:Disease	osteoradionecrosis	Necrosis of bone following radiation injury.	SCTID:109333005|MESH:D010025|NCIT:C63707	mondo.json	radiation necrosis of bone|Osteoradionecroses|osteoradionecrosis	http://purl.obolibrary.org/obo/MONDO_0043735	http://identifiers.org/snomedct/109333005|NCIT:C63707|http://identifiers.org/mesh/D010025	
NCBITaxon:33758	biolink:OrganismalEntity	Echovirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_33758		
UBERON:0003390	biolink:AnatomicalEntity	mesothelium of pleural cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003390		
MONDO:0018741	biolink:Disease	paracetamol poisoning		Orphanet:464458|SCTID:70273001|ICD9:965.4	mondo.json	acetaminophen poisoning	http://purl.obolibrary.org/obo/MONDO_0018741	Orphanet:464458|http://identifiers.org/snomedct/70273001	ordo_clinical_situation
MONDO:0018740	biolink:Disease	drug-induced methemoglobinemia	Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene).	NCIT:C101045|Orphanet:464453|SCTID:191390009|UMLS:C0271905	mondo.json	drug induced methemoglobinemia|acquired methemoglobinemia	http://purl.obolibrary.org/obo/MONDO_0018740	UMLS:C0271905|NCIT:C101045|Orphanet:464453|http://identifiers.org/snomedct/191390009	ordo_disease
HGNC:14255	biolink:NamedThing	BRPF1			mondo.json		http://identifiers.org/hgnc/14255		
MONDO:0018743	biolink:Disease	immune-mediated acquired neuromuscular junction disease		Orphanet:464764|UMLS:CN242076	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018743	UMLS:CN242076|Orphanet:464764	disease_grouping|ordo_group_of_disorders
MONDO:0018742	biolink:Disease	familial gastric type 1 neuroendocrine tumor		Orphanet:464756|UMLS:CN242170	mondo.json	hereditary type 1 gNET|familial type 1 gNET	http://purl.obolibrary.org/obo/MONDO_0018742	UMLS:CN242170|Orphanet:464756	ordo_disease
OBO:ECTO_9001630	biolink:NamedThing	exposure to endocrine disruptor	An exposure to endocrine disruptor.		mondo.json	exposure to endocrine disruptor	http://purl.obolibrary.org/obo/ECTO_9001630		
UBERON:0003397	biolink:AnatomicalEntity	mesentery of duodenum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003397		
HGNC:14253	biolink:NamedThing	CERS1			mondo.json		http://identifiers.org/hgnc/14253		
UBERON:0003398	biolink:AnatomicalEntity	mesentery of jejunum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003398		
MONDO:0004108	biolink:Disease	diaphragma sellae meningioma	A meningioma that affects the diaphragma sellae.	UMLS:C1333283|NCIT:C5283|DOID:7103	mondo.json	meningioma of diaphragm sellae|meningioma of the Diaphragma sellae|diaphragma sellae meningioma (disease)|meningioma of Diaphragma sellae|meningioma of the diaphragm sellae|diaphragm sellae meningioma|meningioma (disease) of diaphragma sellae	http://purl.obolibrary.org/obo/MONDO_0004108	DOID:7103|UMLS:C1333283|NCIT:C5283	
MONDO:0004107	biolink:Disease	splenic manifestation of leukemia	A leukemia (disease) that involves the spleen.	NCIT:C7296|UMLS:C1336065|DOID:710	mondo.json	splenic manifestation of leukemia|leukemia (disease) of spleen|spleen leukemia (disease)|splenic leukemia	http://purl.obolibrary.org/obo/MONDO_0004107	DOID:710|NCIT:C7296|UMLS:C1336065	
MONDO:0006769	biolink:Disease	gastroparesis	Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine.	DOID:11914|MESH:D018589|HP:0002578|ICD9:536.3|EFO:1000948|UMLS:C0152020|MedDRA:10018043|ICD10CM:K31.84|SCTID:196753007	mondo.json	gastric atonia|gastroparalysis|gastroparesis|gastroparesis syndrome|gastroparesis (disease)	http://purl.obolibrary.org/obo/MONDO_0006769	http://identifiers.org/snomedct/196753007|http://purl.bioontology.org/ontology/ICD10CM/K31.84|http://identifiers.org/mesh/D018589|DOID:11914|UMLS:C0152020	
MONDO:0004109	biolink:Disease	epiglottis neoplasm	A benign or malignant neoplasm that affects the epiglottis.	UMLS:C1290353|DOID:7105|NCIT:C4933|SCTID:126699008	mondo.json	neoplasm of epiglottis|epiglottis tumor|epiglottic tumor|epiglottic neoplasm|tumor of Epiglottis|tumor of the Epiglottis|tumor of epiglottis|epiglottis neoplasm (disease)|neoplasm of Epiglottis|Epiglottis tumor|neoplasm of the Epiglottis	http://purl.obolibrary.org/obo/MONDO_0004109	UMLS:C1290353|DOID:7105|NCIT:C4933|http://identifiers.org/snomedct/126699008	
MONDO:0006767	biolink:Disease	gastric antral vascular ectasia	Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension, scleroderma, and chronic renal failure. It may cause gastric bleeding.	NCIT:C84724|SCTID:43935004|MedDRA:10051585|DOID:2493|EFO:1000945|GARD:0007877|MESH:D020252	mondo.json	watermelon stomach|gave	http://purl.obolibrary.org/obo/MONDO_0006767	http://identifiers.org/snomedct/43935004|DOID:2493|http://identifiers.org/mesh/D020252|NCIT:C84724	
MONDO:0004104	biolink:Disease	splenic manifestation of hairy cell leukemia	A hairy cell leukemia that involves the spleen.	SCTID:93151007|NCIT:C7301|UMLS:C1336064|ICD9:202.47|DOID:709	mondo.json	spleen hairy cell leukemia|hairy cell leukemia of spleen|splenic manifestation of hairy cell leukemia	http://purl.obolibrary.org/obo/MONDO_0004104	DOID:709|NCIT:C7301|UMLS:C1336064|http://identifiers.org/snomedct/93151007	
MONDO:0004103	biolink:Disease	tall cell variant thyroid gland papillary carcinoma	A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns. Necrotic changes and high mitotic activity are present.	NCIT:C35558|UMLS:C1336695|DOID:7089	mondo.json	tall cell variant papillary carcinoma|tall cell variant thyroid gland papillary carcinoma	http://purl.obolibrary.org/obo/MONDO_0004103	NCIT:C35558|UMLS:C1336695|DOID:7089	
MONDO:0006768	biolink:Disease	obsolete gastric outlet obstruction	OBSOLETE. Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0006768		
MONDO:0006765	biolink:Disease	Fusobacterium infectious disease	Infections with bacteria of the genus fusobacterium.	SCTID:712657002|ICD9:041.84|EFO:1000943|UMLS:C4039413	mondo.json	infection caused by Fusobacterium|Fusobacterium disease or disorder|infection due to Fusobacterium|Fusobacterium caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0006765	UMLS:C4039413|http://identifiers.org/snomedct/712657002	
MONDO:0004106	biolink:Disease	testicular yolk sac tumor, macrocystic pattern	A yolk sac tumor that arises from the testis and is characterized by the presence of collections of thin-walled spaces.	NCIT:C39924|DOID:7097|UMLS:C1515307	mondo.json	macrocystic pattern testicular yolk sac tumor|testicular yolk sac tumor, macrocystic pattern	http://purl.obolibrary.org/obo/MONDO_0004106	UMLS:C1515307|NCIT:C39924|DOID:7097	
MONDO:0006766	biolink:Disease	gait apraxia	Impaired ambulation not attributed to sensory impairment or motor weakness. frontal lobe disorders; basal ganglia diseases (e.g., parkinsonian disorders); dementia, multi-infarct; alzheimer disease; and other conditions may be associated with gait apraxia.	UMLS:C1510417|DOID:4260|MESH:D020235|EFO:1000944|MedDRA:10070635	mondo.json	Gait apraxia (finding)	http://purl.obolibrary.org/obo/MONDO_0006766	DOID:4260|UMLS:C1510417|http://identifiers.org/mesh/D020235	
MONDO:0004105	biolink:Disease	childhood epithelioid sarcoma	An epithelioid sarcoma occurring in childhood.	DOID:7095|NCIT:C8095|UMLS:C0279989	mondo.json	epithelioid sarcoma of childhood|childhood epithelioid sarcoma|pediatric epithelioid sarcoma|epithelioid sarcoma	http://purl.obolibrary.org/obo/MONDO_0004105	NCIT:C8095|UMLS:C0279989|DOID:7095	
MONDO:0004100	biolink:Disease	lung mixed small cell and squamous cell carcinoma	A lung carcinoma characterized by a combination of small cell carcinoma and squamous cell carcinoma.	UMLS:C1334788|DOID:7081|NCIT:C9423	mondo.json	small cell and squamous cell lung carcinoma|small cell and squamous cell carcinoma of lung|mixed small cell and squamous cell carcinoma of lung|small cell and squamous cell carcinoma of the lung|combined small cell and squamous cell lung carcinoma|mixed small cell and squamous cell carcinoma of the lung|small cell and large cell carcinoma of the lung	http://purl.obolibrary.org/obo/MONDO_0004100	NCIT:C9423|DOID:7081|UMLS:C1334788	
MONDO:0006763	biolink:Disease	frozen shoulder	A painful inflammatory process leads to a mechanical block in active and passive range of motion (ROM) of the shoulder. Adhesive capsulitis of the shoulder is characterized by functional loss of passive and active shoulder motion. This inflammatory process results in fibroblastic proliferation and extensive scar tissue formation. Fibroblastic proliferation, a late phase of the inflammatory process involved in tissue repair, leads to thickening, fibrosis, and adhesion of the capsule to itself and the humerus.	ICD9:726.0|DOID:14188|MedDRA:10017391|UMLS:C0311223|ICD10CM:M75.0|SCTID:399114005|MESH:D002062|EFO:1000941	mondo.json	adhesive capsulitis|adhesive capsulitis of shoulder|adhesions-capsulitis,shoulder	http://purl.obolibrary.org/obo/MONDO_0006763	DOID:14188|UMLS:C0311223|http://purl.bioontology.org/ontology/ICD10CM/M75.0|http://identifiers.org/snomedct/399114005	
MONDO:0006764	biolink:Disease	fungal meningitis	Meningitis caused by fungal agents which may occur as opportunistic infections or arise in immunocompetent hosts.	SCTID:24321005|DOID:11608|ICD9:321.1|MedDRA:10017538|MESH:D016921|ICD9:117.9|UMLS:C0085438|EFO:1000942	mondo.json	Fungi caused infectious meningitis|Fungi infectious meningitis	http://purl.obolibrary.org/obo/MONDO_0006764	UMLS:C0085438|http://identifiers.org/snomedct/24321005|DOID:11608|http://identifiers.org/mesh/D016921	
MONDO:0004102	biolink:Disease	columnar cell variant thyroid gland papillary carcinoma	A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of pseudostratified malignant follicular cells.	NCIT:C35830|ICDO:8344/3|UMLS:C1333120|DOID:7088	mondo.json	columnar cell variant thyroid gland papillary carcinoma|columnar cell variant papillary thyroid gland carcinoma|columnar cell variant papillary carcinoma	http://purl.obolibrary.org/obo/MONDO_0004102	NCIT:C35830|DOID:7088|UMLS:C1333120	
MONDO:0006761	biolink:Disease	fibromuscular dysplasia	A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation.	NCIT:C84714|MESH:D005352|UMLS:C1851111|EFO:1000938|OMIM:135580|Orphanet:336|MESH:C537929|MedDRA:10054794	mondo.json	FMDA|fibromuscular dysplasia|fibromuscular dysplasia of arteries	http://purl.obolibrary.org/obo/MONDO_0006761	https://omim.org/entry/135580|Orphanet:336|http://identifiers.org/mesh/C537929|http://identifiers.org/mesh/D005352|NCIT:C84714	
MONDO:0006762	biolink:Disease	freemartinism	A condition occurring in the female offspring of dizygotic twins (twin, dizygotic) in a mixed-sex pregnancy, usually in cattle. Freemartinism can occur in other mammals. When placental fusion between the male and the female fetuses permits the exchange of fetal cells and fetal hormones, testicular hormones from the male fetus can androgenize the female fetus producing a sterile xx/xy chimeric 'female'(chimerism).	UMLS:C0016697|EFO:1000939|DOID:4671|MESH:D005611	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006762	DOID:4671|http://identifiers.org/mesh/D005611|UMLS:C0016697	
MONDO:0004101	biolink:Disease	multicentric papillary thyroid carcinoma	A papillary carcinoma arising from the thyroid gland from multiple foci.	NCIT:C37304|UMLS:C1334817|DOID:7086	mondo.json	multicentric thyroid gland papillary carcinoma|multicentric papillary thyroid gland carcinoma|multicentric papillary thyroid carcinoma	http://purl.obolibrary.org/obo/MONDO_0004101	UMLS:C1334817|NCIT:C37304|DOID:7086	
MONDO:0006760	biolink:Disease	fetal erythroblastosis	A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death.	DOID:1098|EFO:1000937|MESH:D004899|SCTID:387705004|NCIT:C101304|UMLS:C0014761|ICD9:773|ICD9:773.2	mondo.json	EF - erythroblastosis foetalis|rhesus isoimmunisation of the newborn|isoimmune hemolytic disease of the newborn|HDFN|haemolytic disease due to rhesus isoimmunisation|hemolytic disease of the newborn|hemolytic disease of the fetus or newborn|erythroblastosis fetalis	http://purl.obolibrary.org/obo/MONDO_0006760	UMLS:C0014761|http://identifiers.org/snomedct/387705004|NCIT:C101304|DOID:1098|http://identifiers.org/mesh/D004899	
MONDO:0018738	biolink:Disease	benign metanephric tumour	A benign neoplasm that involves the metanephros.	Orphanet:464359|UMLS:CN242075	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018738	UMLS:CN242075|Orphanet:464359	ordo_disease
UBERON:0003384	biolink:AnatomicalEntity	skeletal muscle tissue of pharynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003384		
MONDO:0018737	biolink:Disease	catastrophic antiphospholipid syndrome		UMLS:C3662487|ICD9:289.81|UMLS:CN242096|Orphanet:464343|SCTID:609329007|GARD:0009820	mondo.json	caps|catastrophic APS	http://purl.obolibrary.org/obo/MONDO_0018737	UMLS:CN242096|UMLS:C3662487|Orphanet:464343|http://identifiers.org/snomedct/609329007	ordo_disease
UBERON:0003382	biolink:AnatomicalEntity	cardiac muscle of left ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003382		
MONDO:0018739	biolink:Disease	neonatal alloimmune neutropenia		SCTID:14333004|Orphanet:464370|UMLS:C0272176|ICD10CM:P61.5	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018739	UMLS:C0272176|Orphanet:464370|http://identifiers.org/snomedct/14333004	ordo_disease
UBERON:0003383	biolink:AnatomicalEntity	cardiac muscle tissue of interventricular septum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003383		
MONDO:0018734	biolink:Disease	verrucous hemangioma	A skin hemangioma characterized by the presence of epidermal hyperplasia.	ICDO:9142/0|UMLS:C0334540|Orphanet:464318|DOID:470|UMLS:CN242156|NCIT:C4299	mondo.json	verrucous keratotic hemangioma (morphologic abnormality)|verrucous keratotic hemangioma	http://purl.obolibrary.org/obo/MONDO_0018734	UMLS:C0334540|UMLS:CN242156|DOID:470|Orphanet:464318|NCIT:C4299	ordo_disease
UBERON:0003380	biolink:AnatomicalEntity	cardiac muscle of left atrium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003380		
MONDO:0018733	biolink:Disease	intellectual disability syndrome due to a DYRK1A point mutation		Orphanet:464311|UMLS:CN242084	mondo.json	DYRK1A-related intellectual disability syndrome due to a point mutation	http://purl.obolibrary.org/obo/MONDO_0018733	UMLS:CN242084|Orphanet:464311	ordo_clinical_subtype
UBERON:0003381	biolink:AnatomicalEntity	cardiac muscle of right ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003381		
MONDO:0018736	biolink:Disease	kaposiform lymphangiomatosis	A generalized lymphatic anomaly characterized by kaposiform spindled lymphatic endothelial cells.	Orphanet:464329	mondo.json	KLA	http://purl.obolibrary.org/obo/MONDO_0018736	Orphanet:464329	ordo_disease
MONDO:0018735	biolink:Disease	multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome	Human MALT1 wild-type allele is located in the vicinity of 18q21 and is approximately 79 kb in length. This allele, which encodes mucosa associated lymphoid tissue lymphoma translocation gene 1 protein, plays a role in the modulation of the nuclear factor kappa B complex signaling cascade. The gene is involved in a chromosomal translocation t(11;18)(q21;q21) with the BIRC2 gene in mucosa-associated lymphoid tissue lymphomas.	GARD:0010467|UMLS:CN242151|Orphanet:464321|NCIT:C60672	mondo.json	cutaneovisceral angiomatosis-thrombocytopenia syndrome|MLT1|MLT|multifocal lymphangioendotheliomatosis with thrombocytopenia|MALT1 wt allele|mucosa associated lymphoid tissue lymphoma translocation Gene 1 wt allele|DKFZp434L132	http://purl.obolibrary.org/obo/MONDO_0018735	UMLS:CN242151|Orphanet:464321|NCIT:C60672	ordo_disease
MONDO:0018730	biolink:Disease	obsolete rare genetic venous malformation	OBSOLETE. An instance of rare venous malformation that is caused by a modification of the individual's genome.	UMLS:CN241790|Orphanet:459548	mondo.json	genetic rare venous malformation	http://purl.obolibrary.org/obo/MONDO_0018730	UMLS:CN241790|Orphanet:459548	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0018732	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0018732		
CHEBI:24913	biolink:ChemicalSubstance	isoprenoid	Any lipid formally derived from isoprene (2-methylbuta-1,3-diene), the skeleton of which can generally be discerned in repeated occurrence in the molecule. The skeleton of isoprenoids may differ from strict additivity of isoprene units by loss or shift of a fragment, commonly a methyl group. The class includes both hydrocarbons and oxygenated derivatives.		mondo.json	isoprenoid|isoprenoids|isoprenoids	http://purl.obolibrary.org/obo/CHEBI_24913		
MONDO:0018731	biolink:Disease	lethal multiple congenital anomalies/dysmorphic syndrome		Orphanet:459787	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018731	Orphanet:459787	ordo_group_of_disorders|disease_grouping
NCBITaxon:33743	biolink:OrganismalEntity	Kyasanur Forest disease virus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_33743		
UBERON:0003388	biolink:AnatomicalEntity	mesothelium of pericardial cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003388		
HGNC:14262	biolink:NamedThing	AUTS2			mondo.json		http://identifiers.org/hgnc/14262		
UBERON:0003389	biolink:AnatomicalEntity	mesothelium of diaphragm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003389		
OBO:ECTO_9001640	biolink:NamedThing	exposure to electron donor	An exposure to electron donor.		mondo.json	exposure to electron donor	http://purl.obolibrary.org/obo/ECTO_9001640		
HGNC:14263	biolink:NamedThing	RAB23			mondo.json		http://identifiers.org/hgnc/14263		
UBERON:0003386	biolink:AnatomicalEntity	smooth muscle of eye			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003386		
UBERON:0003387	biolink:AnatomicalEntity	smooth muscle of trachea			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003387		
MONDO:0004159	biolink:Disease	pancreatic non-invasive mucinous cystadenocarcinoma	A non-invasive malignant cystic epithelial neoplasm arising from the exocrine pancreas. It occurs almost exclusively in women. Small tumors are usually found incidentally. Larger tumors usually produce symptoms related to compression of the adjacent structures. It is characterized by the presence of columnar, mucin-producing epithelial cells which often form papillary projections with irregular branching and budding. There is cellular stratification, severe dysplasia, and high mitotic activity present. Complete surgical removal is usually associated with an excellent prognosis.	DOID:7237|NCIT:C41245|ICDO:8470/2|UMLS:C1518874	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004159	UMLS:C1518874|NCIT:C41245|DOID:7237	
MONDO:0004158	biolink:Disease	pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma	A cystic epithelial neoplasm characterized by the presence of columnar mucin-producing epithelial cells, ovarian-type stroma formation, and a focal or extensive invasive carcinomatous component.	DOID:7236|NCIT:C41246|ICDO:8470/3|UMLS:C1518870	mondo.json	pancreatic invasive mucinous cystadenocarcinoma|pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma|pancreatic mucinous cystic neoplasm with an associated invasive carcinoma	http://purl.obolibrary.org/obo/MONDO_0004158	UMLS:C1518870|DOID:7236|NCIT:C41246	
HGNC:26219	biolink:NamedThing	FUZ			mondo.json		http://identifiers.org/hgnc/26219		
MONDO:0004155	biolink:Disease	adult central nervous system embryonal carcinoma	A embryonal carcinoma of the central nervous system that occurs in an adult.	DOID:7233|NCIT:C5790|UMLS:C1370503	mondo.json	adult CNS embryonal carcinoma|adult central nervous system embryonal carcinoma|embryonal carcinoma of the adult central nervous system|embryonal carcinoma of the central nervous system of adults|adult embryonal carcinoma of the central nervous system|Central nervous system embryonal carcinoma|embryonal carcinoma of adult central nervous system|embryonal carcinoma of the adult CNS|embryonal carcinoma of adult CNS	http://purl.obolibrary.org/obo/MONDO_0004155	UMLS:C1370503|NCIT:C5790|DOID:7233	
MONDO:0004154	biolink:Disease	obsolete central nervous system embryonal carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004154		
MONDO:0004157	biolink:Disease	obsolete pancreatic mucinous cystadenoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004157		
MONDO:0004156	biolink:Disease	pancreatic mucinous cystadenocarcinoma	A mucinous cystadenocarcinoma that involves the pancreas.	DOID:7234|NCIT:C5713|UMLS:C1335308	mondo.json	colloidal Cystadencarcinoma of the pancreas|pancreatic colloid cystadenocarcinoma|mucinous Cystadencarcinoma of pancreas|pancreatic colloid Cystadencarcinoma|colloid Cystadencarcinoma of pancreas|colloid Cystadencarcinoma of the pancreas|pancreatic mucinous cystadenocarcinoma|mucinous Cystadencarcinoma of the pancreas|pancreatic colloidal Cystadencarcinoma|colloidal Cystadencarcinoma of pancreas	http://purl.obolibrary.org/obo/MONDO_0004156	NCIT:C5713|DOID:7234	
MONDO:0004151	biolink:Disease	spinal meninges cancer	A malignant neoplasm involving the meninx of spinal cord.	SCTID:363476006|UMLS:C0153647|ICD9:192.3|DOID:7224	mondo.json	meninx of spinal cord cancer|malignant meninx of spinal cord neoplasm|malignant neoplasm of meninx of spinal cord|malignant neoplasm of spinal meninges|cancer of meninx of spinal cord	http://purl.obolibrary.org/obo/MONDO_0004151	DOID:7224|UMLS:C0153647|http://identifiers.org/snomedct/363476006	
MONDO:0004150	biolink:Disease	breast giant fibroadenoma	A breast fibroadenoma characterized by a very large size. This term has also been used as a synonym for juvenile fibroadenoma by some authors. The latter is characterized by epithelial hyperplasia and an increased stromal cellularity.	DOID:7223|SCTID:254846003|NCIT:C4273|ICDO:9016/0|UMLS:C0346157|UMLS:C0334500	mondo.json	giant fibroadenoma of the breast|breast giant fibroadenoma|giant breast fibroadenoma|giant fibroadenoma|giant fibroadenoma of breast	http://purl.obolibrary.org/obo/MONDO_0004150	NCIT:C4273|UMLS:C0346157|DOID:7223|UMLS:C0334500|http://identifiers.org/snomedct/254846003	
MONDO:0004153	biolink:Disease	childhood central nervous system embryonal carcinoma	An embryonal carcinoma that arises from the central nervous system and occurs during childhood.	UMLS:C1377605|DOID:7231|NCIT:C6208	mondo.json	childhood CNS embryonal cell carcinoma|embryonal carcinoma of the pediatric CNS|pediatric central nervous system embryonal carcinoma|embryonal carcinoma of childhood central nervous system|pediatric embryonal carcinoma of the central nervous system|embryonal carcinoma of the childhood central nervous system|embryonal carcinoma of the childhood CNS|embryonal carcinoma of the central nervous system of childhood|childhood embryonal carcinoma of the central nervous system|embryonal carcinoma of childhood CNS|embryonal carcinoma of pediatric central nervous system|embryonal carcinoma of the pediatric central nervous system|childhood central nervous system embryonal carcinoma|embryonal carcinoma of pediatric CNS|pediatric CNS embryonal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004153	UMLS:C1377605|DOID:7231|NCIT:C6208	
MONDO:0004152	biolink:Disease	chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation	A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) expressing somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes. The recognition of this variant alters the belief that CLL/SLL is always derived from a naive, pregerminal center B-cell. The presence of somatic hypermutations of IGH genes occurs in approximately 50% of CLL/SLL cases and implies a postgerminal center, memory origin. Patients with this variant of CLL/SLL have a favorable prognosis, with a reported median survival of more than 24 years.	UMLS:C1333037|DOID:7230|NCIT:C37201	mondo.json	CLL/SLL with IGVH SHM|chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation|postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma	http://purl.obolibrary.org/obo/MONDO_0004152	NCIT:C37201|DOID:7230|UMLS:C1333037	
MONDO:0016148	biolink:Disease	obsolete qualitative or quantitative defects of collagen 6			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016148		
MONDO:0016149	biolink:Disease	qualitative or quantitative defects of merosin		Orphanet:207094	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016149	Orphanet:207094	disease_grouping|ordo_group_of_disorders
MONDO:0016144	biolink:Disease	qualitative or quantitative defects of delta-sarcoglycan		GARD:0001799|UMLS:CN072428|Orphanet:207070	mondo.json	delta-sarcoglycanopathy	http://purl.obolibrary.org/obo/MONDO_0016144	Orphanet:207070|UMLS:CN072428	gard_rare|ordo_group_of_disorders|disease_grouping
MONDO:0016145	biolink:Disease	qualitative or quantitative defects of dysferlin		UMLS:C2931687|MESH:C537995|GARD:0002003|GARD:0002031|Orphanet:207073	mondo.json	dysferlinopathy	http://purl.obolibrary.org/obo/MONDO_0016145	UMLS:C2931687|http://identifiers.org/mesh/C537995|Orphanet:207073	gard_rare|disease_grouping|ordo_group_of_disorders
NCBITaxon:128827	biolink:OrganismalEntity	Erysipelotrichaceae		PMID:14742484|PMID:27270136|GC_ID:11	mondo.json	Erysipelothrix group	http://purl.obolibrary.org/obo/NCBITaxon_128827		
MONDO:0016146	biolink:Disease	caveolinopathy	A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals	Orphanet:207078|UMLS:CN043575	mondo.json	qualitative or quantitative defects of caveolin-3	http://purl.obolibrary.org/obo/MONDO_0016146	Orphanet:207078|UMLS:CN043575	ordo_group_of_disorders|disease_grouping
HGNC:14234	biolink:NamedThing	NSD1			mondo.json		http://identifiers.org/hgnc/14234		
MONDO:0016147	biolink:Disease	qualitative or quantitative defects of dystrophin		UMLS:CN043595|Orphanet:207085	mondo.json	dystrophinopathy	http://purl.obolibrary.org/obo/MONDO_0016147	Orphanet:207085|UMLS:CN043595	disease_grouping|ordo_group_of_disorders
MONDO:0016140	biolink:Disease	sarcoglycanopathy	Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.	Orphanet:207052|MESH:D058088	mondo.json	qualitative or quantitative defects of sarcoglycan	http://purl.obolibrary.org/obo/MONDO_0016140	http://identifiers.org/mesh/D058088|Orphanet:207052	disease_grouping|ordo_group_of_disorders
MONDO:0016141	biolink:Disease	qualitative or quantitative defects of alpha-sarcoglycan		Orphanet:207060	mondo.json	alpha-sarcoglycanopathy	http://purl.obolibrary.org/obo/MONDO_0016141	Orphanet:207060	ordo_group_of_disorders|disease_grouping
MONDO:0016142	biolink:Disease	qualitative or quantitative defects of beta-sarcoglycan		UMLS:C2930900|HGNC:10806|Orphanet:207063|MESH:C535435|GARD:0000870	mondo.json	beta-sarcoglycanopathy	http://purl.obolibrary.org/obo/MONDO_0016142	UMLS:C2930900|Orphanet:207063|http://identifiers.org/mesh/C535435	gard_rare|disease_grouping|ordo_group_of_disorders
MONDO:0016143	biolink:Disease	qualitative or quantitative defects of gamma-sarcoglycan		Orphanet:207067	mondo.json	gamma-sarcoglycanopathy	http://purl.obolibrary.org/obo/MONDO_0016143	Orphanet:207067	disease_grouping|ordo_group_of_disorders
HGNC:16892	biolink:NamedThing	CD96			mondo.json		http://identifiers.org/hgnc/16892		
MONDO:0018790	biolink:Disease	obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy		UMLS:CN776855|Orphanet:477765	mondo.json	COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendancy	http://purl.obolibrary.org/obo/MONDO_0018790	UMLS:CN776855|Orphanet:477765	ordo_group_of_disorders
MONDO:0004169	biolink:Disease	premenstrual tension	A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of pms are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses.	UMLS:C0376356|ICD9:625.4|MESH:D011293|DOID:727|SCTID:82639001	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004169	UMLS:C0376356|DOID:727|http://identifiers.org/mesh/D011293	
MONDO:0004166	biolink:Disease	hereditary fallopian tube carcinoma	Fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma.	DOID:7266|NCIT:C40455|UMLS:C1512418	mondo.json	familiar fallopian tube carcinoma|hereditary fallopian tube cancer|hereditary fallopian tube carcinoma|familial fallopian tube carcinoma	http://purl.obolibrary.org/obo/MONDO_0004166	DOID:7266|NCIT:C40455|UMLS:C1512418	
MONDO:0004165	biolink:Disease	selective IgD deficiency disease	A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class D (IgD). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient production of IgD from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons are asymptomatic and do not appear to be at increased risk for infection.	UMLS:C0398695|NCIT:C27144|DOID:7263|SCTID:234541006|ICD9:279.03	mondo.json	selective IgD immunodeficiency|selective immunoglobulin D deficiency	http://purl.obolibrary.org/obo/MONDO_0004165	DOID:7263|http://identifiers.org/snomedct/234541006|UMLS:C0398695|NCIT:C27144	
MONDO:0004168	biolink:Disease	cribriform variant testicular seminoma	A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in cribriform patterns and few lymphocytes.	DOID:7269|UMLS:C1515292|NCIT:C40957	mondo.json	testicular seminoma, cribriform variant	http://purl.obolibrary.org/obo/MONDO_0004168	UMLS:C1515292|DOID:7269|NCIT:C40957	
MONDO:0004167	biolink:Disease	obsolete lung clear cell carcinoma		SCTID:254630009|UMLS:C0345959|DOID:7267	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004167	DOID:7267|http://identifiers.org/snomedct/254630009|UMLS:C0345959	
HGNC:28887	biolink:NamedThing	LEMD3			mondo.json		http://identifiers.org/hgnc/28887		
MONDO:0004162	biolink:Disease	uterine corpus cellular leiomyoma	A morphologic variant of leiomyoma arising from the uterine corpus. It is characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern.	DOID:7242|NCIT:C40163|UMLS:C1519845	mondo.json	uterine corpus cellular leiomyoma|body of uterus cellular leiomyoma|cellular leiomyoma of body of uterus	http://purl.obolibrary.org/obo/MONDO_0004162	DOID:7242|NCIT:C40163|UMLS:C1519845	
HGNC:28880	biolink:NamedThing	MAGT1			mondo.json		http://identifiers.org/hgnc/28880		
MONDO:0004161	biolink:Disease	uterine corpus apoplectic leiomyoma	A morphologic variant of uterine corpus leiomyoma characterized by zones of hemorrhagic infarction surrounded by hypercellular areas. It usually develops in women of childbearing years, particularly those that are pregnant, post-partum, or taking oral contraceptives.	DOID:7241|NCIT:C40165|UMLS:C1519852	mondo.json	uterine corpus leiomyoma with apoplectic change|uterine corpus hemorrhagic cellular leiomyoma	http://purl.obolibrary.org/obo/MONDO_0004161	DOID:7241|NCIT:C40165|UMLS:C1519852	
MONDO:0004164	biolink:Disease	lymphoepithelioma-like acinar prostate adenocarcinoma	A variant of prostate carcinoma characterized by the presence of malignant cells forming syncytial patterns and dense lymphocytic infiltrates.	NCIT:C39885|UMLS:C1515864|DOID:7246	mondo.json	lymphoepithelioma-like variant acinar prostate adenocarcinoma|acinar prostate adenocarcinoma, lymphoepithelioma-like variant	http://purl.obolibrary.org/obo/MONDO_0004164	NCIT:C39885|DOID:7246|UMLS:C1515864	
MONDO:0004163	biolink:Disease	bladder urachal urothelial carcinoma	A transitional cell carcinoma of the urinary bladder that arises from the urachal epithelium.	DOID:7244|UMLS:C1511207|NCIT:C39844	mondo.json	bladder urachal urothelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0004163	NCIT:C39844|DOID:7244|UMLS:C1511207	
HGNC:28883	biolink:NamedThing	PPA2			mondo.json		http://identifiers.org/hgnc/28883		
HGNC:26222	biolink:NamedThing	FAR1			mondo.json		http://identifiers.org/hgnc/26222		
MONDO:0004160	biolink:Disease	female stress incontinence	The involuntary loss of urine in females secondary to insufficient strength of the pelvic floor muscles; this can result from physical changes following pregnancy and childbirth, or as a response to a decrease in estrogen during menopause.	ICD9:625.6|UMLS:C0038437|NCIT:C35042|DOID:724	mondo.json	female urinary stress incontinence|stress incontinence - female	http://purl.obolibrary.org/obo/MONDO_0004160	NCIT:C35042|UMLS:C0038437|DOID:724	
OBO:ECTO_9001627	biolink:NamedThing	exposure to inorganic acid	An exposure to inorganic acid.		mondo.json	exposure to inorganic acid	http://purl.obolibrary.org/obo/ECTO_9001627		
MONDO:0016137	biolink:Disease	obsolete acute and subacute inflammatory demyelinating polyneuropathy		Orphanet:207038	mondo.json	acute and subacute inflammatory demyelinating polyradiculoneuropathy	http://purl.obolibrary.org/obo/MONDO_0016137	Orphanet:207038	ordo_group_of_disorders
MONDO:0018799	biolink:Disease	obsolete rare hypercholesterolemia	OBSOLETE. Rare hypercholesterolemia.	UMLS:CN776861|Orphanet:477811	mondo.json	rare hypercholesterolemia	http://purl.obolibrary.org/obo/MONDO_0018799	Orphanet:477811|UMLS:CN776861	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0016138	biolink:Disease	obsolete malignant lymphoma with peripheral neuropathy		Orphanet:207046	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016138	Orphanet:207046	ordo_group_of_disorders|disease_grouping
UBERON:1000004	biolink:AnatomicalEntity	collection of hair on external ear			mondo.json		http://purl.obolibrary.org/obo/UBERON_1000004		
MONDO:0016139	biolink:Disease	qualitative or quantitative protein defects in neuromuscular diseases		Orphanet:207049|UMLS:CN200901	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016139	Orphanet:207049|UMLS:CN200901	ordo_group_of_disorders|disease_grouping
OBO:ECTO_9001628	biolink:NamedThing	exposure to gas molecular entity	An exposure to gas molecular entity.		mondo.json	exposure to gas molecular entity	http://purl.obolibrary.org/obo/ECTO_9001628		
MONDO:0016133	biolink:Disease	obsolete rare hereditary metabolic disease with peripheral neuropathy		Orphanet:207018|UMLS:CN200897	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016133	Orphanet:207018|UMLS:CN200897	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0018796	biolink:Disease	isolated constitutional thrombocytopenia		Orphanet:477797	mondo.json	Cconstitutional thrombocytopenia without extra-hematopoietic manifestation|non-syndromic constitutional thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0018796	Orphanet:477797	disease_grouping|ordo_group_of_disorders
MONDO:0016134	biolink:Disease	obsolete rare hereditary systemic disease with peripheral neuropathy		UMLS:CN200898|Orphanet:207021	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016134	Orphanet:207021|UMLS:CN200898	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0018795	biolink:Disease	syndromic constitutional thrombocytopenia		Orphanet:477794|UMLS:CN776900	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018795	UMLS:CN776900|Orphanet:477794	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
HGNC:14244	biolink:NamedThing	RAB18			mondo.json		http://identifiers.org/hgnc/14244		
MONDO:0016135	biolink:Disease	obsolete rare hereditary neurologic disease with peripheral neuropathy		Orphanet:207025|UMLS:CN200899	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016135	Orphanet:207025|UMLS:CN200899	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0018798	biolink:Disease	obsolete other genetic dermis disorder		Orphanet:477808|UMLS:CN776936	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018798	Orphanet:477808|UMLS:CN776936	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
NCBITaxon:1884633	biolink:OrganismalEntity	Cryptococcaceae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1884633		
MONDO:0018797	biolink:Disease	obsolete genetic cardiac malformation		Orphanet:477805	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018797	Orphanet:477805	ordo_group_of_disorders|disease_grouping
MONDO:0016136	biolink:Disease	obsolete cerebellar ataxia with peripheral neuropathy		Orphanet:207028	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016136	Orphanet:207028	ordo_group_of_disorders
MONDO:0018792	biolink:Disease	obsolete Moyamoya syndrome		UMLS:CN776904|Orphanet:477771	mondo.json	rare disorder with a Moyamoya angiopathy	http://purl.obolibrary.org/obo/MONDO_0018792	UMLS:CN776904|Orphanet:477771	ordo_group_of_disorders|disease_grouping
MONDO:0016130	biolink:Disease	fungal myositis		Orphanet:207000|SCTID:240111007|UMLS:C0410251	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016130	http://identifiers.org/snomedct/240111007|UMLS:C0410251|Orphanet:207000	ordo_disease
MONDO:0018791	biolink:Disease	Moyomoya angiopathy	A rare cerebral vasculopathy characterized by a progressive stenosis of the terminal portion of the internal carotid arteries and the development of abnormal collateral vessels.	Orphanet:477768	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018791	Orphanet:477768	disease_grouping|ordo_group_of_disorders
MONDO:0016131	biolink:Disease	obsolete spinal muscular atrophy associated with central nervous system anomaly		Orphanet:207012	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016131	Orphanet:207012	ordo_group_of_disorders|disease_grouping
MONDO:0018794	biolink:Disease	cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder		Orphanet:477787|OMIM:618372|UMLS:CN776897	mondo.json	platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency|Phospholipase A2, Group Iva, Deficiency of|PLA2G4A-related platelet dysfunction|GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS|GURDP|cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder	http://purl.obolibrary.org/obo/MONDO_0018794	UMLS:CN776897|https://omim.org/entry/618372|Orphanet:477787	ordo_disease
NCBITaxon:1884637	biolink:OrganismalEntity	Cryptococcus gattii species complex		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1884637		
MONDO:0018793	biolink:Disease	primary condylar hyperplasia		Orphanet:477781	mondo.json	type 1 condylar hyperplasia	http://purl.obolibrary.org/obo/MONDO_0018793	Orphanet:477781	ordo_disease
MONDO:0016132	biolink:Disease	obsolete rare hereditary disease with peripheral neuropathy		Orphanet:207015	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016132	Orphanet:207015	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0004137	biolink:Disease	obsolete MONDO:0004137			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004137		
MONDO:0004136	biolink:Disease	ovarian endometrioid cystadenoma	A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells.	DOID:7191|NCIT:C40075|UMLS:C1518713	mondo.json	ovarian endometrioid cystadenoma	http://purl.obolibrary.org/obo/MONDO_0004136	UMLS:C1518713|DOID:7191|NCIT:C40075	
CHEBI:73913	biolink:ChemicalSubstance	antifolate	An antimetabolite that impairs the action of folic acids		mondo.json	antifolates|folic acid antagonist|folic acid antagonists	http://purl.obolibrary.org/obo/CHEBI_73913		
MONDO:0004139	biolink:Disease	normocytic anemia	Anemia in which the red blood cell volume is normal.	UMLS:C0085577|DOID:720|NCIT:C35142|ICD9:285.8|SCTID:300980002	mondo.json	anemia normocytic|normocytic Anemia	http://purl.obolibrary.org/obo/MONDO_0004139	DOID:720|http://identifiers.org/snomedct/300980002|NCIT:C35142|UMLS:C0085577	
MONDO:0006798	biolink:Disease	hypervitaminosis A	A symptom complex resulting from ingesting excessive amounts of vitamin A.	EFO:1000978|UMLS:C0020579|MESH:D006986|DOID:9972|MedDRA:10020916|SCTID:64559002|ICD9:278.2|ICD10CM:E67.0	mondo.json	hypervitaminosis type A	http://purl.obolibrary.org/obo/MONDO_0006798	http://purl.bioontology.org/ontology/ICD10CM/E67.0|http://identifiers.org/snomedct/64559002|http://identifiers.org/mesh/D006986|UMLS:C0020579|DOID:9972	
MONDO:0006799	biolink:Disease	hypothalamic neoplasm	A primary or metastatic neoplasm that affects the hypothalamus.	MESH:D007029|UMLS:C0020659|EFO:1000979|NCIT:C3129|SCTID:254968009|DOID:3644	mondo.json	hypothalamus neoplasm|tumor of hypothalamus|neoplasm of the hypothalamus|hypothalamus tumor|hypothalamic tumor|neoplasm of hypothalamus|hypothalamic neoplasms|tumor of the hypothalamus	http://purl.obolibrary.org/obo/MONDO_0006799	http://identifiers.org/mesh/D007029|DOID:3644|NCIT:C3129|UMLS:C0020659|http://identifiers.org/snomedct/254968009	
MONDO:0004138	biolink:Disease	obsolete maxillary sinus adenoid cystic carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004138		
MONDO:0006796	biolink:Disease	hypertensive encephalopathy	Encephalopathy resulting from hypertension.	ICD9:437.2|UMLS:C0151620|DOID:9427|SCTID:50490005|NCIT:C3503|EFO:1000976|MESH:D020343|MedDRA:10020803|ICD10CM:I67.4	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006796	http://purl.bioontology.org/ontology/ICD10CM/I67.4|DOID:9427|http://identifiers.org/mesh/D020343|NCIT:C3503|http://identifiers.org/snomedct/50490005|UMLS:C0151620	
MONDO:0004133	biolink:Disease	pituitary gland mixed eosinophil-basophil adenoma	An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic and basic dyes.	UMLS:C0334312|DOID:7179|NCIT:C4148|ICDO:8281/0	mondo.json	mixed acidophil-basophil adenoma|mixed acidophil-basophil adenoma (morphologic abnormality)|mixed eosinophil-basophil adenoma|pituitary gland mixed acidophil-basophil adenoma	http://purl.obolibrary.org/obo/MONDO_0004133	NCIT:C4148|UMLS:C0334312|DOID:7179	
MONDO:0004132	biolink:Disease	anal canal squamous cell carcinoma	A squamous cell carcinoma arising from the mucosa of the anal canal.	UMLS:C1332262|Orphanet:424019|DOID:7177|NCIT:C7469	mondo.json	anal canal squamous cell carcinoma|squamous cell carcinoma of the anal canal	http://purl.obolibrary.org/obo/MONDO_0004132	NCIT:C7469|DOID:7177|Orphanet:424019|UMLS:C1332262	ordo_disease
MONDO:0006797	biolink:Disease	hypertensive retinopathy	Retinopathy due to hypertension.	SCTID:6962006|MESH:D058437|ICD9:362.11|EFO:1000977|MedDRA:10020839|DOID:11561|NCIT:C3514|UMLS:C0152132	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006797	DOID:11561|http://identifiers.org/snomedct/6962006|http://identifiers.org/mesh/D058437|UMLS:C0152132|NCIT:C3514	
HGNC:28852	biolink:NamedThing	SYCE1			mondo.json		http://identifiers.org/hgnc/28852		
MONDO:0006794	biolink:Disease	hypersensitivity vasculitis	A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer.	NCIT:C82863|SCTID:60555002|ICD9:446.2|EFO:1000974|DOID:9809|ICD9:446.29|MedDRA:10020764|ICD9:446.20	mondo.json	leukocytoclastic vasculitis	http://purl.obolibrary.org/obo/MONDO_0006794	http://identifiers.org/snomedct/60555002|DOID:9809|NCIT:C82863	
MONDO:0004135	biolink:Disease	subacute lymphocytic thyroiditis	Thyroiditis associated with painless enlargement of the thyroid gland. It occurs more frequently in females and is characterized by alterations between hyperthyroidism and hypothyroidism and the eventual return to normal thyroid gland function.	UMLS:C1306804|NCIT:C35829|SCTID:361126006|DOID:7187|UMLS:C0271814	mondo.json	Subacute lymphocytic thyroiditis|Subacute painless thyroiditis|silent thyroiditis	http://purl.obolibrary.org/obo/MONDO_0004135	http://identifiers.org/snomedct/361126006|DOID:7187|UMLS:C1306804|UMLS:C0271814|NCIT:C35829	
MONDO:0006795	biolink:Disease	hypersplenism	Overactive functioning of the spleen, resulting in excessive destruction of blood cells.	SCTID:58381000|HP:0001971|NCIT:C34714|UMLS:C0020532|ICD9:289.4|EFO:1000975|DOID:6376|ICD10CM:D73.1|MedDRA:10020769|MESH:D006971	mondo.json	hypersplenia|hypersplenism|hypersplenism (disease)	http://purl.obolibrary.org/obo/MONDO_0006795	http://identifiers.org/mesh/D006971|http://identifiers.org/snomedct/58381000|http://purl.bioontology.org/ontology/ICD10CM/D73.1|UMLS:C0020532|DOID:6376|NCIT:C34714	
MONDO:0004134	biolink:Disease	benign dermal neurilemmoma		UMLS:C1332490|NCIT:C5569|DOID:7181	mondo.json	benign skin schwannoma|benign neurilemmoma of skin|benign neurilemmoma of the skin|benign schwannoma of skin|benign schwannoma of the skin|benign dermal schwannoma|benign skin neurilemmoma	http://purl.obolibrary.org/obo/MONDO_0004134	NCIT:C5569|DOID:7181|UMLS:C1332490	
MONDO:0006792	biolink:Disease	hyperglobulinemic purpura	Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. This syndrome often occurs on the legs of women aged 20 to 40 years.	MESH:D011694|DOID:3325|UMLS:C0034151|EFO:1000972|SCTID:402852007	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006792	http://identifiers.org/mesh/D011694|UMLS:C0034151|http://identifiers.org/snomedct/402852007|DOID:3325	
MONDO:0006793	biolink:Disease	hyperpituitarism	Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma.	MESH:D006964|DOID:2444|MedDRA:10020716|UMLS:C0020506|EFO:1000973|SCTID:10649000|ICD9:253.1	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006793	DOID:2444|http://identifiers.org/mesh/D006964|UMLS:C0020506|http://identifiers.org/snomedct/10649000	clingen
MONDO:0004131	biolink:Disease	anal verrucous carcinoma	A large, well differentiated squamous cell carcinoma with a cauliflower-like appearance, characterized by the presence of an exophytic and endophytic growth pattern. Morphologically, there is papillomatosis and acanthosis present, however cytologically the neoplastic squamous cells have a benign appearance. Dysplastic changes are minimal. It does not respond to conservative treatment and it is regarded by many authors as an intermediate lesion between condyloma acuminatum and squamous cell carcinoma.	DOID:7175|NCIT:C7470|UMLS:C1332278	mondo.json	anal verrucous carcinoma|anal giant (malignant) condyloma|anal Buschke-Lowenstein tumor	http://purl.obolibrary.org/obo/MONDO_0004131	NCIT:C7470|DOID:7175|UMLS:C1332278	
MONDO:0006790	biolink:Disease	hypercementosis	A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)	ICD9:521.5|UMLS:C0020441|GARD:0006692|MESH:D006936|DOID:12733|ICD10CM:K03.4|MedDRA:10020596|SCTID:78537008|EFO:1000970	mondo.json	cementation hyperplasia	http://purl.obolibrary.org/obo/MONDO_0006790	http://identifiers.org/mesh/D006936|DOID:12733|http://identifiers.org/snomedct/78537008|UMLS:C0020441|http://purl.bioontology.org/ontology/ICD10CM/K03.4	gard_rare
MONDO:0004130	biolink:Disease	anus basaloid carcinoma	An anal squamous cell carcinoma characterized by the presence of malignant cells with hyperchromatic nuclei and peripheral nuclear palisading.	UMLS:C0280470|NCIT:C8256|DOID:7174	mondo.json	basaloid carcinoma of anus|anus basaloid squamous cell carcinoma|anal basaloid carcinoma|basaloid carcinoma of the anus	http://purl.obolibrary.org/obo/MONDO_0004130	UMLS:C0280470|DOID:7174|NCIT:C8256	
MONDO:0006791	biolink:Disease	hyperemesis gravidarum	Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances.	HP:0012188|MedDRA:10020614|SCTID:14094001|EFO:1000971|MESH:D006939	mondo.json	hyperemesis gravidarum|hyperemesis gravidarum (disease)|pregnancy pernicious vomiting|pernicious vomiting of pregnancy	http://purl.obolibrary.org/obo/MONDO_0006791	http://identifiers.org/mesh/D006939|http://identifiers.org/snomedct/14094001	
MONDO:0016126	biolink:Disease	viral myositis		SCTID:240105009|ICD9:729.1|UMLS:C0150005|MedDRA:10051512|Orphanet:206991	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016126	Orphanet:206991|http://identifiers.org/snomedct/240105009|UMLS:C0150005	ordo_disease
MONDO:0018789	biolink:Disease	obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy		Orphanet:477762|UMLS:CN776856	mondo.json	COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendancy	http://purl.obolibrary.org/obo/MONDO_0018789	Orphanet:477762|UMLS:CN776856	ordo_group_of_disorders
HGNC:16877	biolink:NamedThing	MFN2			mondo.json		http://identifiers.org/hgnc/16877		
HGNC:16876	biolink:NamedThing	ARNT2			mondo.json		http://identifiers.org/hgnc/16876		
MONDO:0018788	biolink:Disease	COL4A1 or COL4A2-related cerebral small vessel disease		Orphanet:477759|UMLS:CN776854	mondo.json	COL4A1 or COL4A2-related cerebral angiopathy	http://purl.obolibrary.org/obo/MONDO_0018788	Orphanet:477759|UMLS:CN776854	ordo_group_of_disorders|disease_grouping
MONDO:0016127	biolink:Disease	bacterial myositis		Orphanet:206994|SCTID:30330001	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016127	Orphanet:206994|http://identifiers.org/snomedct/30330001	ordo_disease
MONDO:0016128	biolink:Disease	parasitic myositis		ICD9:728.2|Orphanet:206997|UMLS:C0263997|SCTID:60970005	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016128	http://identifiers.org/snomedct/60970005|UMLS:C0263997|Orphanet:206997	ordo_group_of_disorders|disease_grouping
NCBITaxon:1639119	biolink:OrganismalEntity	Plasmodiidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1639119		
MONDO:0016129	biolink:Disease	eosinophilic gastroenteritis	Eosinophilic gastroenteritis (EGE) is a rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall.	UMLS:C1262481|SCTID:359804008|NCIT:C35330|ICD9:558.41|DOID:4031|Orphanet:2070|GARD:0009142|MedDRA:10017902	mondo.json	eosinophilic gastroenteritis|eosinophilic enteritis|EGE|eosinophilic gastroenterocolitis	http://purl.obolibrary.org/obo/MONDO_0016129	DOID:4031|http://identifiers.org/snomedct/359804008|UMLS:C1262481|Orphanet:2070|NCIT:C35330	ordo_disease
MONDO:0016122	biolink:Disease	periodic paralysis		HP:0003768|Orphanet:206976|MESH:D010245|UMLS:C1279412|MedDRA:10016208|UMLS:CN231077	mondo.json	periodic paralysis|periodic paralysis (disease)	http://purl.obolibrary.org/obo/MONDO_0016122	Orphanet:206976|UMLS:CN231077|UMLS:C1279412	ordo_group_of_disorders|disease_grouping
MONDO:0018785	biolink:Disease	obsolete nodular fasciitis	OBSOLETE. A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0018785		
HGNC:16873	biolink:NamedThing	FIG4			mondo.json		http://identifiers.org/hgnc/16873		
MONDO:0018784	biolink:Disease	pediatric multiple sclerosis	Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on intial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported.	Orphanet:477738|UMLS:CN037005|GARD:0010443	mondo.json	MS pediatric|multiple sclerosis, pediatric|pediatric MS	http://purl.obolibrary.org/obo/MONDO_0018784	Orphanet:477738|UMLS:CN037005	gard_rare|ordo_disease
MONDO:0016123	biolink:Disease	muscular tumor		Orphanet:206982	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016123	Orphanet:206982	ordo_group_of_disorders|disease_grouping
HGNC:14211	biolink:NamedThing	BLNK			mondo.json		http://identifiers.org/hgnc/14211		
MONDO:0018787	biolink:Disease	obsolete genetic cerebral small vessel disease		UMLS:CN776941|Orphanet:477754	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018787	Orphanet:477754|UMLS:CN776941	ordo_group_of_disorders
MONDO:0016124	biolink:Disease	obsolete drug and/or toxic myopathy		Orphanet:206985	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016124	Orphanet:206985	
MONDO:0018786	biolink:Disease	pontine autosomal dominant microangiopathy with leukoencephalopathy	A rare genetic cerebral small vessel disease characterized by recurrent ischemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar, and cerebellar symptoms, among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leukoencephalopathy of the cerebral hemispheres.	Orphanet:477749	mondo.json	PADMAL	http://purl.obolibrary.org/obo/MONDO_0018786	Orphanet:477749	ordo_disease
MONDO:0016125	biolink:Disease	infectious, fungal or parasitic myopathy		Orphanet:206988	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016125	Orphanet:206988	ordo_group_of_disorders|disease_grouping
MONDO:0018781	biolink:Disease	KID syndrome	Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.	GARD:0003113|OMIMPS:148210|MESH:C536168|Orphanet:477|UMLS:C0265336|ICD9:759.89|SCTID:2625009|MedDRA:10048786|UMLS:CN205136	mondo.json	KID/HID syndrome|ichthyosis hystrix Rheydt type|keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome|keratitis, ichthyosis, and deafness (KID) syndrome|Senter syndrome	http://purl.obolibrary.org/obo/MONDO_0018781	UMLS:CN205136|http://identifiers.org/snomedct/2625009|https://omim.org/phenotypicSeries/PS148210|http://identifiers.org/mesh/C536168|UMLS:C0265336|Orphanet:477	ordo_disease|ordo_inheritance_inconsistent
MONDO:0018780	biolink:Disease	congenital generalized hypercontractile muscle stiffness syndrome		Orphanet:476406	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018780	Orphanet:476406	ordo_disease
MONDO:0016120	biolink:Disease	myotonic syndrome		MESH:D020967|Orphanet:206970|MedDRA:10028658	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016120	Orphanet:206970|http://identifiers.org/mesh/D020967	ordo_group_of_disorders|disease_grouping
MONDO:0018783	biolink:Disease	fibroblastic rheumatism		ICD9:729.0|Orphanet:477650|UMLS:C1302753|SCTID:399964004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018783	http://identifiers.org/snomedct/399964004|UMLS:C1302753|Orphanet:477650	ordo_disease
MONDO:0016121	biolink:Disease	congenital myotonia		Orphanet:206973	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016121	Orphanet:206973	ordo_group_of_disorders|disease_grouping
MONDO:0018782	biolink:Disease	type 1 interferonopathy		Orphanet:477647	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018782	Orphanet:477647	disease_grouping|ordo_group_of_disorders
MONDO:0004148	biolink:Disease	gallbladder papillary neoplasm with an associated invasive carcinoma	An intraluminal papillary neoplasm, usually with high grade intraepithelial neoplasia, that arises from the gallbladder. It is associated with the presence of an invasive carcinoma. The carcinomatous component is usually an adenocarcinoma.	DOID:7221|UMLS:C1333753|NCIT:C5743|ICDO:8503/3	mondo.json	gall bladder papillary carcinoma|papillary carcinoma of gallbladder|gallbladder papillary neoplasm with an associated invasive carcinoma|intracystic papillary neoplasm with an associated invasive carcinoma|gallbladder papillary carcinoma|papillary carcinoma of the gallbladder|gallbladder papillary neoplasm with an associated invasive cancer	http://purl.obolibrary.org/obo/MONDO_0004148	NCIT:C5743|DOID:7221|UMLS:C1333753	
MONDO:0004147	biolink:Disease	noninvasive malignant thymoma	A morphologically malignant thymoma that is entirely confined within the capsule.	DOID:7214|NCIT:C9080|UMLS:C0278847	mondo.json	malignant thymoma, noninvasive|thymoma malignant noninvasive	http://purl.obolibrary.org/obo/MONDO_0004147	UMLS:C0278847|DOID:7214|NCIT:C9080	
HGNC:28867	biolink:NamedThing	IGF2BP2			mondo.json		http://identifiers.org/hgnc/28867		
MONDO:0004149	biolink:Disease	gallbladder pleomorphic giant cell adenocarcinoma		DOID:7222	mondo.json	pleomorphic giant cell adenocarcinoma of the gallbladder	http://purl.obolibrary.org/obo/MONDO_0004149	DOID:7222	
MONDO:0004144	biolink:Disease	fibrous meningioma	A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix.	ICDO:9532/0|UMLS:C0334606|NCIT:C4330|DOID:7211|EFO:1000258	mondo.json	fibroblastic meningioma|fibrous meningioma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0004144	NCIT:C4330|DOID:7211|UMLS:C0334606	
HGNC:28862	biolink:NamedThing	NIPBL			mondo.json		http://identifiers.org/hgnc/28862		
MONDO:0004143	biolink:Disease	psammomatous meningioma	A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells.	NCIT:C4331|UMLS:C0334607|DOID:7210|EFO:1000500|ICDO:9533/0	mondo.json	psammomatous meningioma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0004143	NCIT:C4331|DOID:7210|UMLS:C0334607	
MONDO:0004146	biolink:Disease	transitional meningioma	A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns.	NCIT:C4333|DOID:7213|EFO:1000602|UMLS:C0334611|ICDO:9537/0	mondo.json	transitional meningioma (morphologic abnormality)|mixed meningioma|transitional (mixed) meningioma	http://purl.obolibrary.org/obo/MONDO_0004146	NCIT:C4333|DOID:7213|UMLS:C0334611	
MONDO:0004145	biolink:Disease	meningothelial meningioma	A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present.	EFO:1000372|DOID:7212|NCIT:C4329|ICDO:9531/0|UMLS:C0334605	mondo.json	meningothelial meningioma (morphologic abnormality)|Meningotheliomatous meningioma	http://purl.obolibrary.org/obo/MONDO_0004145	NCIT:C4329|UMLS:C0334605|DOID:7212	
MONDO:0004140	biolink:Disease	intermediate malignant teratoma	An immature teratoma characterized by the presence of an intermediate amount of undifferentiated tissues.	DOID:7202|ICDO:9083/3|NCIT:C4288|UMLS:C0334522	mondo.json	malignant teratoma, intermediate (morphologic abnormality)|Intermediate immature teratoma|malignant teratoma, intermediate	http://purl.obolibrary.org/obo/MONDO_0004140	NCIT:C4288|DOID:7202|UMLS:C0334522	
MONDO:0004142	biolink:Disease	lung combined large cell neuroendocrine carcinoma	A subtype of large cell neuroendocrine lung carcinoma characterized by the presence of large neuroendocrine cells in combination with adenocarcinoma, squamous cell carcinoma, giant cell carcinoma and/ or spindle cell carcinoma.	UMLS:C1333122|NCIT:C7267|DOID:7207	mondo.json	pulmonary combined large cell neuroendocrine carcinoma|combined large cell neuroendocrine carcinoma of lung|combined large cell neuroendocrine carcinoma of the lung|combined large cell lung neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0004142	DOID:7207|UMLS:C1333122|NCIT:C7267	
MONDO:0004141	biolink:Disease	melanomatosis		UMLS:C1334691|NCIT:C9499|DOID:7206	mondo.json	melanomatosis	http://purl.obolibrary.org/obo/MONDO_0004141	DOID:7206|UMLS:C1334691|NCIT:C9499	
HGNC:26200	biolink:NamedThing	STN1			mondo.json		http://identifiers.org/hgnc/26200		
MONDO:0016119	biolink:Disease	obsolete mitochondrial myopathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016119		
HP:0007858	biolink:PhenotypicFeature	Chorioretinal lacunae	Punched out lesions in the pigmented layer of the retina.	UMLS:C1844751|UMLS:C4072866	mondo.json	Lacunar retinal depigmentation	http://purl.obolibrary.org/obo/HP_0007858		hposlim_core
MONDO:0043707	biolink:Disease	obsolete mediastinal disorder	OBSOLETE. A non-neoplastic or neoplastic disorder that affects the structures of the mediastinum. Representative examples include mediastinitis, mediastinal lipoma, mediastinal schwannoma, thymoma, and mediastinal lymphoma.	SCTID:49483002|MESH:D008477|NCIT:C26826|UMLS:C0025061	mondo.json	disease or disorder of mediastinum|disease, mediastinal|mediastinum disease|mediastinal disorder|mediastinum disease or disorder|disorder of mediastinum|disease of mediastinum|diseases, mediastinal|mediastinal disease	http://purl.obolibrary.org/obo/MONDO_0043707	UMLS:C0025061|http://identifiers.org/mesh/D008477|http://identifiers.org/snomedct/49483002|NCIT:C26826	
GO:0033490	biolink:NamedThing	cholesterol biosynthetic process via lathosterol	The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, via the intermediate lathosterol.		mondo.json	cholesterol formation via lathosterol|cholesterol biosynthesis via lathosterol|cholesterol anabolism via lathosterol|cholesterol synthesis via lathosterol	http://purl.obolibrary.org/obo/GO_0033490		
MONDO:0016115	biolink:Disease	bulbospinal muscular atrophy of adulthood	A bulbospinal muscular atrophy that occurs in an adult.	Orphanet:206707	mondo.json	bulbospinal muscular atrophy of adults|bulbospinal muscular atrophy of adult|adult bulbospinal muscular atrophy	http://purl.obolibrary.org/obo/MONDO_0016115	Orphanet:206707	disease_grouping|ordo_group_of_disorders
MONDO:0018778	biolink:Disease	intermediate Charcot-Marie-Tooth disease		DOID:0050543|UMLS:CN776860|Orphanet:476123	mondo.json	Charcot-Marie-Tooth disease dominant intermediate|Charcot-Marie-Tooth disease intermediate type|Intermediate hereditary motor and sensory neuropathy|Charcot-Marie-Tooth disease recessive intermediate	http://purl.obolibrary.org/obo/MONDO_0018778	Orphanet:476123|DOID:0050543|UMLS:CN776860	ordo_group_of_disorders|disease_grouping
MONDO:0016116	biolink:Disease	generalized bulbospinal muscular atrophy		Orphanet:206710	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016116	Orphanet:206710	disease_grouping|ordo_group_of_disorders
MONDO:0018777	biolink:Disease	autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome		UMLS:CN776826|Orphanet:476119	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018777	Orphanet:476119|UMLS:CN776826	ordo_malformation_syndrome
MONDO:0016117	biolink:Disease	muscular lipidosis		SCTID:240095001|UMLS:C0410214|Orphanet:206953|ICD9:359.89	mondo.json	lipid storage myopathy	http://purl.obolibrary.org/obo/MONDO_0016117	http://identifiers.org/snomedct/240095001|Orphanet:206953|UMLS:C0410214	disease_grouping|ordo_group_of_disorders
MONDO:0018779	biolink:Disease	hypercontractile muscle stiffness syndrome		Orphanet:476403|UMLS:CN776841	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018779	Orphanet:476403|UMLS:CN776841	disease_grouping|ordo_group_of_disorders
MONDO:0016118	biolink:Disease	muscular glycogenosis		Orphanet:206959|ICD10CM:E74.0	mondo.json	glycogen storage myopathy	http://purl.obolibrary.org/obo/MONDO_0016118	Orphanet:206959	disease_grouping|ordo_group_of_disorders
MONDO:0018774	biolink:Disease	erythrokeratodermia-cardiomyopathy syndrome	A rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis.	Orphanet:476096|UMLS:CN776912	mondo.json	EKC syndrome	http://purl.obolibrary.org/obo/MONDO_0018774	Orphanet:476096|UMLS:CN776912	ordo_disease
MONDO:0016111	biolink:Disease	obsolete non-dystrophic myopathy with collagen 6 anomaly		Orphanet:206659	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016111	Orphanet:206659	
MONDO:0018773	biolink:Disease	autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome		Orphanet:476093|UMLS:CN776822	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018773	Orphanet:476093|UMLS:CN776822	ordo_disease
MONDO:0016112	biolink:Disease	inclusion myopathy		Orphanet:206662|GARD:0001658	mondo.json	cytoplasmic body myopathy	http://purl.obolibrary.org/obo/MONDO_0016112	Orphanet:206662	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0018776	biolink:Disease	demyelinating hereditary motor and sensory neuropathy		Orphanet:476116	mondo.json	demyelinating hereditary motor and sensory neuropathy|demyelinating HMSN	http://purl.obolibrary.org/obo/MONDO_0018776	Orphanet:476116	disease_grouping|ordo_group_of_disorders
MONDO:0016113	biolink:Disease	bulbospinal muscular atrophy		SCTID:230253001|Orphanet:206701	mondo.json	bulbospinal muscular atrophy|SBMA|spinal-bulbar muscular atrophy|spinal and bulbal muscular atrophy	http://purl.obolibrary.org/obo/MONDO_0016113	Orphanet:206701|http://identifiers.org/snomedct/230253001	ordo_group_of_disorders|disease_grouping
MONDO:0016114	biolink:Disease	bulbospinal muscular atrophy of childhood	A bulbospinal muscular atrophy that occurs during childhood.	Orphanet:206704	mondo.json	pediatric bulbospinal muscular atrophy|childhood bulbospinal muscular atrophy|bulbospinal muscular atrophy of childhood	http://purl.obolibrary.org/obo/MONDO_0016114	Orphanet:206704	ordo_group_of_disorders|disease_grouping
MONDO:0018775	biolink:Disease	axonal hereditary motor and sensory neuropathy		Orphanet:476109	mondo.json	axonal HMSN	http://purl.obolibrary.org/obo/MONDO_0018775	Orphanet:476109	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0018770	biolink:Disease	Jeune syndrome	Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.	DOID:0050592|OMIMPS:208500|NCIT:C84794|Orphanet:474|MESH:C537571|SCTID:75049004|UMLS:C0265275|MedDRA:10057621|GARD:0003049	mondo.json	Jeune's syndrome|ATD|Jeune asphyxiating thoracic dystrophy|Chondroectodermal dysplasia-like syndrome|thoracic pelvic phalangeal dystrophy|asphyxiating thoracic dystrophy of the newborn|Jeune syndrome|short-rib thoracic dysplasia with or without polydactyly|asphyxiating thoracic dystrophy|short-rib thoracic dysplasia|JATD|infantile thoracic dystrophy	http://purl.obolibrary.org/obo/MONDO_0018770	http://identifiers.org/snomedct/75049004|NCIT:C84794|http://identifiers.org/mesh/C537571|UMLS:C0265275|Orphanet:474|DOID:0050592|https://omim.org/phenotypicSeries/PS208500	ordo_malformation_syndrome
MONDO:0018772	biolink:Disease	Joubert syndrome	Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.	NCIT:C74996|SCTID:716997004|OMIMPS:213300|DOID:0050777|Orphanet:475|GARD:0006802	mondo.json	classic Joubert syndrome|Joubert syndrome|Joubert-Boltshauser syndrome|JBTS|CPD IV|cerebelloparenchymal disorder IV|pure Joubert syndrome|cerebellar vermis agenesis|Joubert syndrome type A	http://purl.obolibrary.org/obo/MONDO_0018772	DOID:0050777|NCIT:C74996|http://identifiers.org/snomedct/716997004|https://omim.org/phenotypicSeries/PS213300|Orphanet:475	ordo_disease
HGNC:16882	biolink:NamedThing	HCN4			mondo.json		http://identifiers.org/hgnc/16882		
MONDO:0016110	biolink:Disease	obsolete non-dystrophic myopathy	OBSOLETE. A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by altered membrane excitability resulting in skeletal muscle stiffness. This group of myotonias is distinct from myotonic dystrophy because of the absence of systemic features or progressive weakness.	Orphanet:206656|SCTID:424795008|NCIT:C122787|UMLS:C1828221	mondo.json	non-dystrophic myotonia|non dystrophic myotonia	http://purl.obolibrary.org/obo/MONDO_0016110	Orphanet:206656|http://identifiers.org/snomedct/424795008|UMLS:C1828221|NCIT:C122787	ordo_group_of_disorders|disease_grouping
MONDO:0018771	biolink:Disease	congenital anomaly of ventricular septum	A congenital heart malformation that involves the interventricular septum.	Orphanet:474347	mondo.json	congenital ventricular septal anomaly|interventricular septum congenital heart malformation|congenital heart malformation of interventricular septum|congenital anomaly of interventricular communication|rare congenital anomaly of ventricular septum	http://purl.obolibrary.org/obo/MONDO_0018771	Orphanet:474347	disease_grouping|ordo_group_of_disorders
HGNC:1739	biolink:NamedThing	CDC45			mondo.json		http://identifiers.org/hgnc/1739		
CHEBI:48975	biolink:ChemicalSubstance	substituted aniline			mondo.json	substituted anilines	http://purl.obolibrary.org/obo/CHEBI_48975		
HGNC:1736	biolink:NamedThing	CDC42			mondo.json		http://identifiers.org/hgnc/1736		
UBERON:0003328	biolink:AnatomicalEntity	mesenchyme of footplate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003328		
UBERON:0003329	biolink:AnatomicalEntity	submucosa of anal canal			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003329		
NCBITaxon:1980486	biolink:OrganismalEntity	Puumala orthohantavirus		GC_ID:1	mondo.json	Puumala hantavirus|Puumala virus PV|nephropathia epidemica virus|Puumala virus|Puumalavirus	http://purl.obolibrary.org/obo/NCBITaxon_1980486		
UBERON:0005992	biolink:AnatomicalEntity	pulmonary valve cusp			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005992		
UBERON:0005991	biolink:AnatomicalEntity	aortic valve anulus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005991		
UBERON:0003330	biolink:AnatomicalEntity	submucosa of rectum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003330		
UBERON:0005990	biolink:AnatomicalEntity	aortic valve cusp			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005990		
NCBITaxon:9554	biolink:OrganismalEntity	Papio		GC_ID:1	mondo.json	baboons	http://purl.obolibrary.org/obo/NCBITaxon_9554		
HGNC:1742	biolink:NamedThing	LRBA			mondo.json		http://identifiers.org/hgnc/1742		
UBERON:0003337	biolink:AnatomicalEntity	serosa of jejunum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003337		
UBERON:0003338	biolink:AnatomicalEntity	ganglion of peripheral nervous system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003338		
UBERON:0005998	biolink:AnatomicalEntity	tricuspid valve cusp			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005998		
UBERON:0003335	biolink:AnatomicalEntity	serosa of colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003335		
UBERON:0003336	biolink:AnatomicalEntity	serosa of duodenum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003336		
UBERON:0005997	biolink:AnatomicalEntity	tricuspid valve anulus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005997		
UBERON:0005996	biolink:AnatomicalEntity	mitral valve cusp			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005996		
CHEBI:2571	biolink:ChemicalSubstance	aliphatic alcohol	An  alcohol derived from an aliphatic compound.		mondo.json	an aliphatic alcohol|Aliphatic alcohol|aliphatic alcohols	http://purl.obolibrary.org/obo/CHEBI_2571		
UBERON:0003333	biolink:AnatomicalEntity	submucosa of jejunum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003333		
UBERON:0003334	biolink:AnatomicalEntity	serosa of rectum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003334		
UBERON:0005995	biolink:AnatomicalEntity	mitral valve anulus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005995		
UBERON:0003331	biolink:AnatomicalEntity	submucosa of colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003331		
UBERON:0005994	biolink:AnatomicalEntity	chorda tendineae			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005994		
UBERON:0003332	biolink:AnatomicalEntity	submucosa of duodenum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003332		
UBERON:0005993	biolink:AnatomicalEntity	pulmonary valve anulus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005993		
MONDO:0006705	biolink:Disease	Bacteroidaceae infectious disease	Infections with bacteria of the family BACTEROIDACEAE.	MESH:D016866|EFO:1000872|UMLS:C0085392	mondo.json	Bacteroidaceae caused disease or disorder|infection, Bacteroidaceae|Bacteroidaceae disease or disorder|infections, Bacteroidaceae|Bacteroidaceae infection	http://purl.obolibrary.org/obo/MONDO_0006705	http://identifiers.org/mesh/D016866|UMLS:C0085392	
MONDO:0006706	biolink:Disease	Bifidobacteriales infectious disease	Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae.	MESH:D039941|UMLS:C1136339|EFO:1000873	mondo.json	infection, Bifidobacteriales|Bifidobacteriales infection|Bifidobacteriales disease or disorder|Bifidobacteriales caused disease or disorder|infections, Bifidobacteriales	http://purl.obolibrary.org/obo/MONDO_0006706	UMLS:C1136339|http://identifiers.org/mesh/D039941	
HGNC:1748	biolink:NamedThing	CDH1			mondo.json		http://identifiers.org/hgnc/1748		
MONDO:0006703	biolink:Disease	obsolete chronic interstitial cystitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006703		
MONDO:0006704	biolink:Disease	CNS demyelinating autoimmune disease	Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens.	MESH:D020278|EFO:1000870	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006704	http://identifiers.org/mesh/D020278	
MONDO:0006701	biolink:Disease	chromophobe adenoma	An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells do not stain with acidic or basic dyes.	MESH:D000238|ICDO:8270/0|UMLS:C0001432|EFO:1000867|DOID:3828|NCIT:C2857	mondo.json	chromophobe adenoma of the pituitary gland|pituitary gland chromophobe adenoma|pituitary chromophobe adenoma|chromophobe adenoma of pituitary gland	http://purl.obolibrary.org/obo/MONDO_0006701	DOID:3828|UMLS:C0001432|http://identifiers.org/mesh/D000238|NCIT:C2857	
HGNC:28844	biolink:NamedThing	FBXO38			mondo.json		http://identifiers.org/hgnc/28844		
UBERON:0003319	biolink:AnatomicalEntity	mesenchyme of carpal region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003319		
MONDO:0006702	biolink:Disease	chronic inflammatory demyelinating polyradiculoneuropathy	A rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs (limbs). Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from case to case. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse.	DOID:5213|NCIT:C84636|ICD9:357.89|MedDRA:10057645|SCTID:444728005|EFO:1000868|MESH:D020277|ICD9:357.81|ICD10CM:G61.81|Orphanet:2932|SCTID:128209004	mondo.json	CIDP|chronic inflammatory demyelinating polyradiculoneuropathy|chronic relapsing polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0006702	http://identifiers.org/mesh/D020277|DOID:5213|Orphanet:2932|http://identifiers.org/snomedct/128209004	
HGNC:28845	biolink:NamedThing	MED25			mondo.json		http://identifiers.org/hgnc/28845		
HGNC:1744	biolink:NamedThing	CDC6			mondo.json		http://identifiers.org/hgnc/1744		
MONDO:0006700	biolink:Disease	choroid cancer	A malignant neoplasm involving the optic choroid.	DOID:12759|NCIT:C3566|SCTID:363466008|ICD9:190.6|EFO:1000866|MESH:D002830|MedDRA:10057405	mondo.json	malignant choroid neoplasm|choroidal tumor|malignant neoplasm of the choroid|malignant neoplasm of choroid|malignant neoplasm of optic choroid|malignant choroid tumor|choroid neoplasm|optic choroid cancer|malignant tumor of the choroid|malignant optic choroid neoplasm|malignant tumor of choroid|cancer of optic choroid	http://purl.obolibrary.org/obo/MONDO_0006700	DOID:12759|NCIT:C3566|http://identifiers.org/mesh/D002830|http://identifiers.org/snomedct/363466008	
UBERON:0003318	biolink:AnatomicalEntity	mesenchyme of elbow			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003318		
UBERON:0005979	biolink:AnatomicalEntity	crista terminalis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005979		
NCBITaxon:1980491	biolink:OrganismalEntity	Sin Nombre orthohantavirus		GC_ID:1	mondo.json	Sin Nombre virus|Sin Nombre hantavirus	http://purl.obolibrary.org/obo/NCBITaxon_1980491		
NCBITaxon:1980490	biolink:OrganismalEntity	Seoul orthohantavirus		GC_ID:1	mondo.json	Seoul hantavirus|epidemic hemorrhagic fever virus|Seoul virus	http://purl.obolibrary.org/obo/NCBITaxon_1980490		
HGNC:14203	biolink:NamedThing	JPH3			mondo.json		http://identifiers.org/hgnc/14203		
UBERON:0005989	biolink:AnatomicalEntity	atrioventricular septum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005989		
UBERON:0003326	biolink:AnatomicalEntity	mesenchyme of mammary gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003326		
UBERON:0003327	biolink:AnatomicalEntity	mesenchyme of forearm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003327		
UBERON:0005988	biolink:AnatomicalEntity	atrium myocardial trabecula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005988		
HGNC:1754	biolink:NamedThing	CDH15			mondo.json		http://identifiers.org/hgnc/1754		
HGNC:14201	biolink:NamedThing	JPH1			mondo.json		http://identifiers.org/hgnc/14201		
UBERON:0003324	biolink:AnatomicalEntity	mesenchyme of lower jaw			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003324		
UBERON:0003325	biolink:AnatomicalEntity	mesenchyme of pinna			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003325		
HGNC:14202	biolink:NamedThing	JPH2			mondo.json		http://identifiers.org/hgnc/14202		
UBERON:0005985	biolink:AnatomicalEntity	coronary vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005985		
UBERON:0003322	biolink:AnatomicalEntity	mesenchyme of shoulder			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003322		
OIO:hasNarrowSynonym	biolink:NamedThing	has_narrow_synonym			mondo.json		http://www.geneontology.org/formats/oboInOwl#hasNarrowSynonym		
UBERON:0003323	biolink:AnatomicalEntity	mesenchyme of upper jaw			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003323		
UBERON:0005984	biolink:AnatomicalEntity	subendocardium layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005984		
UBERON:0005983	biolink:AnatomicalEntity	heart layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005983		
UBERON:0003320	biolink:AnatomicalEntity	mesenchyme of hip			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003320		
UBERON:0003321	biolink:AnatomicalEntity	mesenchyme of knee			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003321		
HGNC:1759	biolink:NamedThing	CDH2			mondo.json		http://identifiers.org/hgnc/1759		
NCBITaxon:9526	biolink:OrganismalEntity	Catarrhini		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_9526		
NCBITaxon:9527	biolink:OrganismalEntity	Cercopithecidae		GC_ID:1	mondo.json	Old World monkeys|monkey|monkeys	http://purl.obolibrary.org/obo/NCBITaxon_9527		
NCBITaxon:9528	biolink:OrganismalEntity	Cercopithecinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_9528		
FOODON:03412846	biolink:NamedThing	obsolete: bacteria			mondo.json		http://purl.obolibrary.org/obo/FOODON_03412846		
NCBITaxon:1980467	biolink:OrganismalEntity	Dobrava-Belgrade orthohantavirus		GC_ID:1	mondo.json	Dobrava-Belgrade hantavirus|Dobrava virus|Dobravavirus|Dobrava-Belgrade virus	http://purl.obolibrary.org/obo/NCBITaxon_1980467		
CHEBI:36962	biolink:ChemicalSubstance	organochalcogen compound	An organochalcogen compound is a compound containing at least one carbon-chalcogen bond.		mondo.json	organochalcogen compounds|organochalcogen compound	http://purl.obolibrary.org/obo/CHEBI_36962		
UBERON:0005970	biolink:AnatomicalEntity	brain commissure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005970		
CHEBI:36963	biolink:ChemicalSubstance	organooxygen compound	An organochalcogen compound containing at least one carbon-oxygen bond.		mondo.json	organooxygen compounds|organooxygen compound	http://purl.obolibrary.org/obo/CHEBI_36963		
UBERON:1000011	biolink:AnatomicalEntity	labial commissure			mondo.json		http://purl.obolibrary.org/obo/UBERON_1000011		
CHEBI:36961	biolink:ChemicalSubstance	chalcocarbonic acid			mondo.json	chalcocarbonic acid|chalcocarbonic acids|chalcocarbonic acids	http://purl.obolibrary.org/obo/CHEBI_36961		
GO:0070459	biolink:NamedThing	prolactin secretion	The regulated release of prolactin, a peptide hormone that stimulates lactation, from secretory granules in the anterior pituitary.		mondo.json		http://purl.obolibrary.org/obo/GO_0070459		
UBERON:0003315	biolink:AnatomicalEntity	mesenchyme of ovary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003315		
UBERON:0003316	biolink:AnatomicalEntity	mesenchyme of yolk sac			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003316		
HGNC:1762	biolink:NamedThing	CDH3			mondo.json		http://identifiers.org/hgnc/1762		
UBERON:0003314	biolink:AnatomicalEntity	eye mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003314		
UBERON:0003312	biolink:AnatomicalEntity	mesenchyme of testis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003312		
UBERON:0005971	biolink:AnatomicalEntity	amniotic fold			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005971		
CHEBI:24995	biolink:ChemicalSubstance	lactam	Cyclic amides of amino carboxylic acids, having a 1-azacycloalkan-2-one structure, or analogues having unsaturation or heteroatoms replacing one or more carbon atoms of the ring.		mondo.json	lactams|Laktame|Laktam|lactam|lactams	http://purl.obolibrary.org/obo/CHEBI_24995		
NCBITaxon:55194	biolink:OrganismalEntity	Malassezia furfur		GC_ID:1	mondo.json	Saccharomyces ovalis|Pityrosporum ovale|Microsporum furfur|Pityrosporum orbiculare|Pityriasis (Tinea) versicolor infection agent	http://purl.obolibrary.org/obo/NCBITaxon_55194		
CHEBI:22333	biolink:ChemicalSubstance	alkylating agent	Highly reactive chemical that introduces alkyl radicals into biologically active molecules and thereby prevents their proper functioning. It could be used as an antineoplastic agent, but it might be very toxic, with carcinogenic, mutagenic, teratogenic, and immunosuppressant actions. It could also be used as a component of poison gases.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_22333		
NCBITaxon:55193	biolink:OrganismalEntity	Malassezia		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_55193		
NCBITaxon:1980476	biolink:OrganismalEntity	Laguna Negra orthohantavirus		GC_ID:1	mondo.json	Laguna Negra virus|Laguna Negra hantavirus	http://purl.obolibrary.org/obo/NCBITaxon_1980476		
NCBITaxon:9539	biolink:OrganismalEntity	Macaca		GC_ID:1	mondo.json	macaques|macaque	http://purl.obolibrary.org/obo/NCBITaxon_9539		
UBERON:1000021	biolink:AnatomicalEntity	skin of face			mondo.json		http://purl.obolibrary.org/obo/UBERON_1000021		
UBERON:1000023	biolink:AnatomicalEntity	spleen pulp			mondo.json		http://purl.obolibrary.org/obo/UBERON_1000023		
UBERON:1000024	biolink:AnatomicalEntity	parenchyma of spleen			mondo.json		http://purl.obolibrary.org/obo/UBERON_1000024		
UBERON:0003304	biolink:AnatomicalEntity	mesoderm blood island			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003304		
UBERON:0005966	biolink:AnatomicalEntity	outflow part of left atrium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005966		
HGNC:1773	biolink:NamedThing	CDK4			mondo.json		http://identifiers.org/hgnc/1773		
UBERON:0005965	biolink:AnatomicalEntity	outflow part of right atrium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005965		
UBERON:0003302	biolink:AnatomicalEntity	roof plate of metencephalon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003302		
HGNC:16841	biolink:NamedThing	LITAF			mondo.json		http://identifiers.org/hgnc/16841		
HGNC:1774	biolink:NamedThing	CDK5			mondo.json		http://identifiers.org/hgnc/1774		
UBERON:0003303	biolink:AnatomicalEntity	roof plate of medulla oblongata			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003303		
UBERON:0003300	biolink:AnatomicalEntity	roof plate of telencephalon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003300		
CHEBI:36970	biolink:ChemicalSubstance	vitamin B6 phosphate			mondo.json	vitamin B6 phosphates|vitamin B-6 phosphates	http://purl.obolibrary.org/obo/CHEBI_36970		
UBERON:0003301	biolink:AnatomicalEntity	roof plate of diencephalon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003301		
MONDO:0006738	biolink:Disease	eccrine acrospiroma	A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors.	MESH:D018250|DOID:5442|NCIT:C7568|EFO:1000912|ONCOTREE:PORO|GARD:0005726|SCTID:253020008|NCIT:C27273|SCTID:400099008	mondo.json	solid-cystic hidradenoma|clear-cell Hidradrenomas|Hidradenomas|acrospiromas, eccrine|hidradenoma|solid-cystic Hidradenomas|clear-cell Hidradrenoma|clear cell Hidradrenoma|acrospiromas|nodular Hidradrenomas|eccrine acrospiroma|eccrine hidradenoma of skin|eccrine Acrospiromas|Hidradenomas, solid-cystic|poroma|acrospiroma, eccrine|Hidradrenoma, clear-cell|poroma/acrospiroma|hidradenoma, solid-cystic|Hidradrenomas, clear-cell|poroma (acrospiroma)|nodular Hidradrenoma|eccrine poroma|solid cystic hidradenoma|Hidradrenomas, nodular|Hidradrenoma, nodular|eccrine hidradenoma	http://purl.obolibrary.org/obo/MONDO_0006738	http://identifiers.org/snomedct/400099008|DOID:5442|NCIT:C27273|http://identifiers.org/mesh/D018250	gard_rare
MONDO:0006739	biolink:Disease	Ehrlich tumor carcinoma	A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms.	MESH:D002286|EFO:1000913|UMLS:C0007125|DOID:5050	mondo.json	Ehrlich's tumor	http://purl.obolibrary.org/obo/MONDO_0006739	http://identifiers.org/mesh/D002286|DOID:5050|UMLS:C0007125	
MONDO:0006736	biolink:Disease	dysplasia of cervix	Abnormal development of immature squamous epithelial cells of the uterine cervix, a term used to describe premalignant cytological changes in the cervical epithelium. These atypical cells do not penetrate the epithelial basement membrane.	ICD9:622.11|EFO:1000910|ICD9:622.10|UMLS:C0007868|MESH:D002578|ICD9:622.1|MedDRA:10013957|SCTID:73391008	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006736	http://identifiers.org/mesh/D002578|http://identifiers.org/snomedct/73391008|UMLS:C0007868	
MONDO:0006737	biolink:Disease	dystocia	Slow or difficult obstetric labor or childbirth.	EFO:1000911|MESH:D004420	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006737	http://identifiers.org/mesh/D004420	
GO:0070470	biolink:NamedThing	plasma membrane respirasome	A respiratory chain located in the plasma membrane of a cell; made up of the protein complexes that form the electron transport system (the respiratory chain), associated with the plasma membrane. The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient.		mondo.json	plasma membrane respiratory chain|plasma membrane electron transport chain	http://purl.obolibrary.org/obo/GO_0070470		
MONDO:0006734	biolink:Disease	benign duodenal neoplasm	A non-metastasizing neoplasm arising from the wall of the duodenum.	NCIT:C4775|MedDRA:10004251|EFO:1000907|DOID:1737|SCTID:92080005|MESH:D004379	mondo.json	benign neoplasm of the duodenum|neoplasm of the duodenum|duodenum benign neoplasm|benign duodenal tumor|benign tumor of duodenum|duodenal benign neoplasm|benign tumor of the duodenum|benign neoplasm of duodenum|benign duodenal neoplasm	http://purl.obolibrary.org/obo/MONDO_0006734	DOID:1737|NCIT:C4775|http://identifiers.org/snomedct/92080005	
MONDO:0006735	biolink:Disease	duodenogastric reflux	Retrograde flow of duodenal contents (bile acids; pancreatic juice) into the stomach.	MedDRA:10060865|EFO:1000909|MESH:D004383|UMLS:C0013299|DOID:4071	mondo.json	duodenogastric reflux (finding)	http://purl.obolibrary.org/obo/MONDO_0006735	http://identifiers.org/mesh/D004383|UMLS:C0013299|DOID:4071	
MONDO:0006732	biolink:Disease	drug-induced dyskinesia	Abnormal movements, including hyperkinesis; hypokinesia; tremor; and dystonia, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see antipsychotic agents). (Adams et al., Principles of Neurology, 6th ed, p1199)	SCTID:102448004|MedDRA:10013916|MESH:D004409|EFO:1000904|ICD9:333.99|GARD:0008236	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006732	http://identifiers.org/mesh/D004409|http://identifiers.org/snomedct/102448004	
HGNC:1777	biolink:NamedThing	CDK6			mondo.json		http://identifiers.org/hgnc/1777		
MONDO:0006733	biolink:Disease	dry eye syndrome	A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye.	DOID:10140|MedDRA:100233350|MedDRA:10013777|SCTID:302896008|UMLS:C0022575|NCIT:C34553|MESH:D007638|ICD9:375.15|EFO:1001001|MESH:D015352|EFO:1000906|DOID:12895|SCTID:46152009|UMLS:C0013238	mondo.json	dry eye|KCS|eye(s), dry|tear film insufficiency|sicca, keratoconjunctivitis|keratoconjunctivitis sicca|dry eye syndrome|dry eye(s)	http://purl.obolibrary.org/obo/MONDO_0006733	DOID:10140|http://identifiers.org/snomedct/302896008|http://identifiers.org/mesh/D015352|UMLS:C0013238|NCIT:C34553|http://identifiers.org/mesh/D007638|http://identifiers.org/snomedct/46152009|DOID:12895|UMLS:C0022575	
MONDO:0006730	biolink:Disease	drug psychosis	Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance.	DOID:1742|ICD9:292.1|MedDRA:10045855|SCTID:191483003|MESH:D011605|EFO:1000902	mondo.json	drug-induced psychosis|drug-induced psychotic disorder	http://purl.obolibrary.org/obo/MONDO_0006730	http://identifiers.org/mesh/D011605|http://identifiers.org/snomedct/191483003|DOID:1742	
MONDO:0006731	biolink:Disease	drug-induced akathisia	An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications.	MESH:D017109|MedDRA:10001540|ICD10CM:G25.71|SCTID:230333002|ICD9:333.99|EFO:1000903	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006731	http://purl.bioontology.org/ontology/ICD10CM/G25.71|http://identifiers.org/snomedct/230333002|http://identifiers.org/mesh/D017109	
NCBITaxon:1980442	biolink:OrganismalEntity	Orthohantavirus		GC_ID:1	mondo.json	Hantavirus	http://purl.obolibrary.org/obo/NCBITaxon_1980442		
HGNC:16808	biolink:NamedThing	UBR1			mondo.json		http://identifiers.org/hgnc/16808		
MONDO:0018719	biolink:Disease	obsolete obsolete rare capillary malformation with associated anomalies		Orphanet:458830|UMLS:CN242066	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018719	Orphanet:458830|UMLS:CN242066	
MONDO:0018727	biolink:Disease	obsolete immunodeficiency due to a complement regulatory deficiency		Orphanet:459348	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018727	Orphanet:459348	ordo_group_of_disorders
UBERON:0003373	biolink:AnatomicalEntity	ectoderm of footplate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003373		
MONDO:0018726	biolink:Disease	obsolete immunodeficiency due to a complement cascade component deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018726		
OBO:ECTO_9001699	biolink:NamedThing	exposure to fuel	An exposure to fuel.		mondo.json	exposure to fuel	http://purl.obolibrary.org/obo/ECTO_9001699		
UBERON:0003374	biolink:AnatomicalEntity	chorionic ectoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003374		
MONDO:0018729	biolink:Disease	obsolete genetic vascular tumor	OBSOLETE. An instance of rare vascular tumor that is caused by a modification of the individual's genome.	Orphanet:459543|UMLS:CN242080	mondo.json	genetic rare vascular tumor|rare genetic vascular tumor	http://purl.obolibrary.org/obo/MONDO_0018729	UMLS:CN242080|Orphanet:459543	ordo_group_of_disorders|disease_grouping
NCBITaxon:9596	biolink:OrganismalEntity	Pan		GC_ID:1	mondo.json	chimpanzees	http://purl.obolibrary.org/obo/NCBITaxon_9596		
HGNC:16817	biolink:NamedThing	ESS2			mondo.json		http://identifiers.org/hgnc/16817		
UBERON:0003371	biolink:AnatomicalEntity	pelvic appendage bud ectoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003371		
MONDO:0018728	biolink:Disease	obsolete rare genetic capillary malformation		UMLS:CN242077|Orphanet:459526	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018728	UMLS:CN242077|Orphanet:459526	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
UBERON:0003372	biolink:AnatomicalEntity	pectoral appendage bud ectoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003372		
NCBITaxon:163158	biolink:OrganismalEntity	Xenopsylla		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_163158		
MONDO:0018723	biolink:Disease	obsolete rare vascular malformation of major vessels		Orphanet:458844|UMLS:CN242093	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018723	UMLS:CN242093|Orphanet:458844	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0018722	biolink:Disease	obsolete primary lymphedema with associated anomalies		Orphanet:458841	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018722	Orphanet:458841	ordo_group_of_disorders|disease_grouping
NCBITaxon:9599	biolink:OrganismalEntity	Pongo		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_9599		
MONDO:0018725	biolink:Disease	corpus callosum agenesis-macrocephaly-hypertelorism syndrome		UMLS:CN242137|Orphanet:459074	mondo.json	dup(7)(q36.3)|7q36.3 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0018725	UMLS:CN242137|Orphanet:459074	ordo_malformation_syndrome
MONDO:0018724	biolink:Disease	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		Orphanet:459070|UMLS:CN242161	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018724	UMLS:CN242161|Orphanet:459070	ordo_malformation_syndrome
HGNC:16812	biolink:NamedThing	COQ8A			mondo.json		http://identifiers.org/hgnc/16812		
HGNC:1786	biolink:NamedThing	CDKN1C			mondo.json		http://identifiers.org/hgnc/1786		
HGNC:1787	biolink:NamedThing	CDKN2A			mondo.json		http://identifiers.org/hgnc/1787		
MONDO:0018721	biolink:Disease	obsolete rare combined vascular malformation		UMLS:CN242069|Orphanet:458837	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018721	UMLS:CN242069|Orphanet:458837	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
UBERON:0003379	biolink:AnatomicalEntity	cardiac muscle of right atrium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003379		
OBO:ECTO_9001694	biolink:NamedThing	exposure to antibacterial agent	An exposure to antibacterial agent.		mondo.json	exposure to antibacterial agent	http://purl.obolibrary.org/obo/ECTO_9001694		
MONDO:0018720	biolink:Disease	common cystic lymphatic malformation		Orphanet:458833	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018720	Orphanet:458833	ordo_group_of_disorders|disease_grouping
HGNC:1785	biolink:NamedThing	CDKN1B			mondo.json		http://identifiers.org/hgnc/1785		
NCBITaxon:163159	biolink:OrganismalEntity	Xenopsylla cheopis		GC_ID:1	mondo.json	oriental rat flea	http://purl.obolibrary.org/obo/NCBITaxon_163159		
OBO:ECTO_9001695	biolink:NamedThing	exposure to nutrient	An exposure to nutrient.		mondo.json	exposure to nutrient	http://purl.obolibrary.org/obo/ECTO_9001695		
MONDO:0006729	biolink:Disease	discrete subaortic stenosis	A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the aortic valve, anywhere between the aortic valve and the mitral valve. It is characterized by restricted outflow from the left ventricle into the aorta.	EFO:1000901|UMLS:C0012628|MESH:D021922|DOID:5804	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006729	http://identifiers.org/mesh/D021922|DOID:5804|UMLS:C0012628	
NCBITaxon:9592	biolink:OrganismalEntity	Gorilla		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_9592		
MONDO:0006749	biolink:Disease	mixed epithelioid and spindle cell melanoma	A melanoma characterized by the presence of malignant large epithelioid melanocytes and malignant spindle-shaped melanocytes.	NCIT:C66756|ICDO:8770/3|SCTID:254811006|MESH:D018332|EFO:1000925	mondo.json	mixed epithelioid and spindle cell melanoma	http://purl.obolibrary.org/obo/MONDO_0006749	http://identifiers.org/snomedct/254811006|NCIT:C66756|http://identifiers.org/mesh/D018332	
MONDO:0006747	biolink:Disease	enterotoxemia	Disease caused by the liberation of exotoxins of clostridium perfringens in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces 'struck', and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease.	ICD9:799.89|EFO:1000922|SCTID:370514003|MESH:D004767|UMLS:C0014371	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006747	http://identifiers.org/mesh/D004767|UMLS:C0014371|http://identifiers.org/snomedct/370514003	
MONDO:0006748	biolink:Disease	epilepsia partialis continua	A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis (see encephalitis, tick borne); Rasmussen syndrome (see encephalitis); multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)	ICD9:345.7|ICD9:345.70|MedDRA:10015034|MESH:D017036|SCTID:241006|EFO:1000924	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006748	http://identifiers.org/mesh/D017036|http://identifiers.org/snomedct/241006	
MONDO:0006745	biolink:Disease	endometrioid stromal sarcoma	A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma.	MedDRA:10057649|DOID:4226|NCIT:C8973|UMLS:C0206630|ICDO:8930/3|MESH:D018203|Orphanet:213711|SCTID:699356008|EFO:1000919|UMLS:C2239246|GARD:0006339|ONCOTREE:ESS|MedDRA:10048397	mondo.json	endometrial stromal sarcomas|stromal sarcoma of the corpus uteri|undifferentiated endometrial sarcoma|endometrioid stromal sarcoma|stromal sarcoma, endometrial|endometrial stromal sarcoma|endometrial stromal sarcoma, high grade|stromal sarcoma, endometrial, malignant|sarcomas, endometrial stromal|stromal sarcomas, endometrial|ess	http://purl.obolibrary.org/obo/MONDO_0006745	UMLS:C2239246|DOID:4226|Orphanet:213711|UMLS:C0206630|http://identifiers.org/snomedct/699356008|NCIT:C8973|http://identifiers.org/mesh/D018203	ordo_disease|gard_rare
CHEBI:22314	biolink:ChemicalSubstance	alkali metal atom			mondo.json	alkali metal|Alkalimetall|metaux alcalins|alkali metals|Alkalimetalle|metales alcalinos|metal alcalino|metal alcalin	http://purl.obolibrary.org/obo/CHEBI_22314		
PATO:0070026	biolink:NamedThing	multipolar neuron morphology	A cell morphology that inheres in neurons which possess a single axon and many dendrites and dendritic branches.		mondo.json		http://purl.obolibrary.org/obo/PATO_0070026		
MONDO:0006746	biolink:Disease	endomyocardial fibrosis	A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator.	EFO:1000921|GARD:0006340|NCIT:C34585|ICD9:425.0|MedDRA:10014800|MESH:D004719|DOID:12932	mondo.json	African endomyocardial fibrosis|obscure African cardiomyopathy|endomyocardial sclerosis	http://purl.obolibrary.org/obo/MONDO_0006746	http://identifiers.org/mesh/D004719|NCIT:C34585|DOID:12932	gard_rare
CHEBI:22315	biolink:ChemicalSubstance	alkaloid	Any of the naturally occurring, basic nitrogen compounds (mostly heterocyclic) occurring mostly in the plant kingdom, but also found in bacteria, fungi, and animals. By extension, certain neutral compounds biogenetically related to basic alkaloids are also classed as alkaloids. Amino acids, peptides, proteins, nucleotides, nucleic acids, amino sugars and antibiotics are not normally regarded as alkaloids. Compounds in which the nitrogen is  exocyclic (dopamine, mescaline, serotonin, etc.) are usually classed as amines rather than alkaloids.		mondo.json	alkaloids|Alkaloide|alcaloides|Alkaloid|alcaloide	http://purl.obolibrary.org/obo/CHEBI_22315		
MONDO:0006743	biolink:Disease	endocrine tuberculosis	Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis.	UMLS:C0041310|MESH:D014383|EFO:1000917	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006743	http://identifiers.org/mesh/D014383|UMLS:C0041310	
CHEBI:22313	biolink:ChemicalSubstance	alkaline earth metal atom			mondo.json	metal alcalino-terreux|Erdalkalimetall|alkaline-earth metals|metaux alcalino-terreux|alkaline-earth metal|metales alcalinoterreos|alkaline earth metal|alkaline earth metals|metal alcalinoterreo|Erdalkalimetalle	http://purl.obolibrary.org/obo/CHEBI_22313		
MONDO:0006744	biolink:Disease	endolymphatic hydrops	An accumulation of endolymph in the inner ear (labyrinth) leading to buildup of pressure and distortion of intralabyrinthine structures, such as cochlea and semicircular canals. It is characterized by sensorineural hearing loss; tinnitus; and sometimes vertigo.	ICD9:386.8|DOID:9848|UMLS:C0206586|MedDRA:10049934|SCTID:27621000119100|MESH:D018159|EFO:1000918	mondo.json	labyrinthine hydrops	http://purl.obolibrary.org/obo/MONDO_0006744	DOID:9848|http://identifiers.org/snomedct/27621000119100|UMLS:C0206586|http://identifiers.org/mesh/D018159	
MONDO:0006741	biolink:Disease	encephalomalacia	Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation.	UMLS:C0014068|MedDRA:10051818|SCTID:58762006|NCIT:C98920|DOID:2034|EFO:1000915|MESH:D004678	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006741	UMLS:C0014068|DOID:2034|http://identifiers.org/snomedct/58762006|NCIT:C98920|http://identifiers.org/mesh/D004678	
MONDO:0006742	biolink:Disease	endemic goiter	Thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption.	DOID:13198|SCTID:56805008|NCIT:C35023|EFO:1000916|ICD9:240.0|SCTID:267369002|MedDRA:10068848|MESH:D006043	mondo.json	iodine-deficiency-related endemic goitre|simple goitre|simple goiter	http://purl.obolibrary.org/obo/MONDO_0006742	NCIT:C35023|DOID:13198|http://identifiers.org/mesh/D006043|http://identifiers.org/snomedct/56805008	
MONDO:0006740	biolink:Disease	empty sella syndrome	Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person.	ICD9:253.8|SCTID:237722004|MESH:D004652|DOID:3642|EFO:1000914|NCIT:C84686|OMIM:130720|UMLS:C0014008|GARD:0006331|MedDRA:10014567	mondo.json	empty sella syndrome|empty sella turcica|empty sella	http://purl.obolibrary.org/obo/MONDO_0006740	UMLS:C0014008|http://identifiers.org/snomedct/237722004|DOID:3642|http://identifiers.org/mesh/D004652|NCIT:C84686	gard_rare
NCBITaxon:1980459	biolink:OrganismalEntity	Bayou orthohantavirus		GC_ID:1	mondo.json	Bayou virus|Bayou hantavirus	http://purl.obolibrary.org/obo/NCBITaxon_1980459		
MONDO:0018709	biolink:Disease	X-linked intellectual disability-hypotonia-movement disorder syndrome		Orphanet:457260|OMIM:300958	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018709	Orphanet:457260	ordo_disease
MONDO:0018708	biolink:Disease	squamous cell carcinoma of the oral tongue		Orphanet:457252|UMLS:CN242132	mondo.json	oral tongue squamous cell carcinoma|OTSCC	http://purl.obolibrary.org/obo/MONDO_0018708	Orphanet:457252|UMLS:CN242132	ordo_disease
NCBITaxon:1980456	biolink:OrganismalEntity	Andes orthohantavirus		GC_ID:1	mondo.json	Andes hantavirus|Andes virus	http://purl.obolibrary.org/obo/NCBITaxon_1980456		
MONDO:0018716	biolink:Disease	partially involuting congenital hemangioma	A clinical subtype of congenital hemangioma that begins as a rapidly involuting congenital hemangioma (RICH) but fails to completely involute and persists as a non-involuting congenital hemangioma (NICH)-like lesion	Orphanet:458785	mondo.json	PICH	http://purl.obolibrary.org/obo/MONDO_0018716	Orphanet:458785	ordo_disease
UBERON:0003362	biolink:AnatomicalEntity	epithelium of endolymphatic duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003362		
MONDO:0018715	biolink:Disease	congenital hemangioma	A hemangioma present and fully formed at birth. The different types are Rapidly involuting congenital hemangiomas (RICH), Partially involuting congenital hemangioma (PICH) and Non-involuting congenital hemangiomas (NICH).	Orphanet:458775|NCIT:C3841|UMLS:C0235753|SCTID:32361000119104	mondo.json	congenital angioma|congenital hemangioma	http://purl.obolibrary.org/obo/MONDO_0018715	Orphanet:458775|NCIT:C3841|http://identifiers.org/snomedct/32361000119104|UMLS:C0235753	ordo_group_of_disorders|disease_grouping
MONDO:0018718	biolink:Disease	obsolete vascular tumor with associated anomalies		Orphanet:458827|UMLS:CN242155	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018718	Orphanet:458827|UMLS:CN242155	ordo_group_of_disorders
UBERON:0003360	biolink:AnatomicalEntity	epithelium of parotid gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003360		
NCBITaxon:190765	biolink:OrganismalEntity	Ochlerotatus <genus>		GC_ID:1|PMID:15264635	mondo.json	Ochlerotatus	http://purl.obolibrary.org/obo/NCBITaxon_190765		
MONDO:0018717	biolink:Disease	mixed cystic lymphatic malformation		Orphanet:458792	mondo.json	mixed cystic lymphangioma	http://purl.obolibrary.org/obo/MONDO_0018717	Orphanet:458792	ordo_malformation_syndrome
UBERON:0003361	biolink:AnatomicalEntity	epithelium of sublingual gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003361		
NCBITaxon:69773	biolink:OrganismalEntity	Penicillium glabrum		GC_ID:1	mondo.json	Citromyces glaber Wehmer, 1911|Penicillium frequentans|Citromyces glaber	http://purl.obolibrary.org/obo/NCBITaxon_69773		
MONDO:0018712	biolink:Disease	composite hemangioendothelioma	An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of spindle, plump, and epithelioid endothelial cells and cellular atypia.	NCIT:C45475|SCTID:403984006|Orphanet:458758|UMLS:CN242120|UMLS:C1304513	mondo.json	composite hemangioendothelioma	http://purl.obolibrary.org/obo/MONDO_0018712	Orphanet:458758|http://identifiers.org/snomedct/403984006|UMLS:C1304513|UMLS:CN242120|NCIT:C45475	ordo_disease
MONDO:0018711	biolink:Disease	intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome		Orphanet:457365|UMLS:CN242088	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018711	Orphanet:457365|UMLS:CN242088	ordo_malformation_syndrome
MONDO:0018714	biolink:Disease	primary intralymphatic angioendothelioma	An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of lymphatic-like vascular channels and papillary endothelial proliferation.	ICDO:9135/1|NCIT:C7526|Orphanet:458768|UMLS:CN242194	mondo.json	papillary intralymphatic angioendothelioma|papillary Endovascular angioendothelioma|pila|Dabska tumor|malignant endothelial papillary angioendothelioma	http://purl.obolibrary.org/obo/MONDO_0018714	Orphanet:458768|UMLS:CN242194|NCIT:C7526	ordo_disease
MONDO:0018713	biolink:Disease	retiform hemangioendothelioma	An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of hobnail endothelial cells and formation of arborizing vascular channels.	Orphanet:458763|SCTID:403982005|NCIT:C27511|UMLS:CN242097|UMLS:C1304512	mondo.json	retiform hemangioendothelioma|hobnail hemangioendothelioma	http://purl.obolibrary.org/obo/MONDO_0018713	Orphanet:458763|UMLS:C1304512|http://identifiers.org/snomedct/403982005|UMLS:CN242097|NCIT:C27511	ordo_disease
GO:0070469	biolink:NamedThing	respirasome	The protein complexes that form the electron transport system (the respiratory chain), associated with a cell membrane, usually the plasma membrane (in prokaryotes) or the inner mitochondrial membrane (on eukaryotes). The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient.		mondo.json	membrane electron transport chain|respiratory chain	http://purl.obolibrary.org/obo/GO_0070469		
MONDO:0018710	biolink:Disease	megalencephaly-severe kyphoscoliosis-overgrowth syndrome		Orphanet:457359	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018710	Orphanet:457359	ordo_malformation_syndrome
UBERON:0003368	biolink:AnatomicalEntity	epithelium of hard palate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003368		
UBERON:0003366	biolink:AnatomicalEntity	epithelium of uterine horn			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003366		
UBERON:0003364	biolink:AnatomicalEntity	epithelium of right lung			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003364		
UBERON:0003365	biolink:AnatomicalEntity	epithelium of left lung			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003365		
MONDO:0006716	biolink:Disease	coronary thrombosis	Coagulation of blood in any of the coronary vessels. The presence of a blood clot (thrombus) often leads to myocardial infarction.	SCTID:398274000|DOID:11847|ICD10CM:I22|ICD10CM:I21|MedDRA:10011108|UMLS:C0010072|EFO:1000883|MESH:D003328	mondo.json	coronary vessel thrombotic disease|coronary artery thrombosis|thrombotic disease of coronary vessel	http://purl.obolibrary.org/obo/MONDO_0006716	UMLS:C0010072|DOID:11847|http://identifiers.org/mesh/D003328|http://identifiers.org/snomedct/398274000	
MONDO:0006717	biolink:Disease	cutaneous fibrous histiocytoma	A benign, intermediate, or malignant mesenchymal neoplasm composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes, in a storiform pattern.	DOID:4418|ONCOTREE:DF|UMLS:C0346049|ICDO:8832/0|NCIT:C6801|EFO:1000885|UMLS:C0002991|SCTID:448015002	mondo.json	fibrous histiocytoma of the skin|benign fibrous cutaneous histiocytoma|fibrous xanthoma of skin|dermatofibroma|DF|benign fibrous histiocytoma of skin|fibrohistiocytic tumor|benign fibrous histiocytoma of the skin|dermatofibroma, no ICD-O subtype (morphologic abnormality)|sclerosing angioma of skin|sclerosing angioma (morphologic abnormality)|pleomorphic fibroma|cutaneous fibrous histiocytoma|dermatofibroma, no ICD-O subtype|fibrohistiocytic neoplasm|benign cutaneous fibrous histiocytoma|benign skin fibrous histiocytoma|sclerosing angioma|fibrous histiocytoma of skin	http://purl.obolibrary.org/obo/MONDO_0006717	http://identifiers.org/snomedct/448015002|NCIT:C6801|UMLS:C0346049|UMLS:C0002991|DOID:4418	
MONDO:0006714	biolink:Disease	coronary aneurysm	Abnormal balloon- or sac-like dilatation in the wall of coronary vessels. Most coronary aneurysms are due to coronary atherosclerosis, and the rest are due to inflammatory diseases, such as kawasaki disease.	HP:0030882|GARD:0006200|MedDRA:10002348|ICD9:414.11|SCTID:50570003|EFO:1000881|DOID:3362|UMLS:C0010051|MESH:D003323	mondo.json	aneurysmal lesion of coronary artery|aneurysm of coronary vessels|coronary artery aneurysm|arteriovenous aneurysm of coronary vessels	http://purl.obolibrary.org/obo/MONDO_0006714	UMLS:C0010051|http://identifiers.org/snomedct/50570003|http://identifiers.org/mesh/D003323|DOID:3362	
MONDO:0006715	biolink:Disease	coronary stenosis	Narrowing of the coronary artery lumen diameter.	UMLS:C0242231|SCTID:233970002|DOID:4248|EFO:1000882|MESH:D023921|MedDRA:10011089	mondo.json	coronary artery stenosis	http://purl.obolibrary.org/obo/MONDO_0006715	http://identifiers.org/mesh/D023921|http://identifiers.org/snomedct/233970002|UMLS:C0242231|DOID:4248	
MONDO:0006712	biolink:Disease	corneal edema	Hazy, swollen cornea.	MedDRA:10011007|ICD9:371.20|EFO:1000879|MESH:D015715|DOID:11030|ICD9:371.2|UMLS:C0010037|SCTID:27194006	mondo.json	corneal oedema	http://purl.obolibrary.org/obo/MONDO_0006712	DOID:11030|http://identifiers.org/snomedct/27194006|http://identifiers.org/mesh/D015715|UMLS:C0010037	
MONDO:0006713	biolink:Disease	corneal neovascularization	New blood vessels originating from the corneal veins and extending from the limbus into the adjacent corneal stroma. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as trachoma, viral interstitial keratitis, microbial keratoconjunctivitis, and the immune response elicited by corneal transplantation.	UMLS:C0085109|ICD9:370.60|SCTID:19161004|DOID:11382|MESH:D016510|EFO:1000880|ICD9:370.6|MedDRA:10011031	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006713	DOID:11382|http://identifiers.org/mesh/D016510|UMLS:C0085109|http://identifiers.org/snomedct/19161004	
MONDO:0006710	biolink:Disease	complex partial epilepsy	A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and automatism may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)	SCTID:407675009|EFO:1000877|UMLS:C0085417|ICD9:345.40|DOID:12382|MESH:D017029	mondo.json	epilepsy, psychomotor|psychomotor epilepsy|Complex partial epileptic seizure	http://purl.obolibrary.org/obo/MONDO_0006710	http://identifiers.org/mesh/D017029|UMLS:C0085417|DOID:12382|http://identifiers.org/snomedct/407675009	
MONDO:0006711	biolink:Disease	constrictive pericarditis	A heart disorder in which the pericardial sac becomes thickened and fibrotic, tightening the myocardium and impeding the normal myocardial function.	UMLS:C0031048|MedDRA:10010783|EFO:1000878|HP:0002563|SCTID:85598007|DOID:11481|ICD9:423.2|NCIT:C78246|MESH:D010494	mondo.json	constrictive pericarditis (disease)|constrictive pericarditis	http://purl.obolibrary.org/obo/MONDO_0006711	http://identifiers.org/mesh/D010494|http://identifiers.org/snomedct/85598007|DOID:11481|NCIT:C78246|UMLS:C0031048	
MONDO:0018705	biolink:Disease	infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome		UMLS:CN242083|Orphanet:457205	mondo.json	ANOAC|axonal neuropathy-optic atrophy-cognitive deficit syndrome	http://purl.obolibrary.org/obo/MONDO_0018705	Orphanet:457205|UMLS:CN242083	ordo_disease
UBERON:0003351	biolink:AnatomicalEntity	pharyngeal epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003351		
UBERON:0003352	biolink:AnatomicalEntity	epithelium of midgut			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003352		
MONDO:0018704	biolink:Disease	obsolete actinomycosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018704		
MONDO:0018707	biolink:Disease	obsolete clear cell sarcoma of kidney			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018707		
MONDO:0018706	biolink:Disease	syndromic sensorineural deafness due to combined oxidative phosphorylation defect		Orphanet:457223|UMLS:CN242144	mondo.json	syndromic sensorineural deafness due to COXPD|syndromic sensorineural hearing loss due to COXPD	http://purl.obolibrary.org/obo/MONDO_0018706	Orphanet:457223|UMLS:CN242144	ordo_disease
UBERON:0003350	biolink:AnatomicalEntity	epithelium of mucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003350		
MONDO:0018701	biolink:Disease	congenital nemaline myopathy		Orphanet:457074	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018701	Orphanet:457074	disease_grouping|ordo_group_of_disorders
MONDO:0018700	biolink:Disease	obsolete pseudohypoparathyroidism without Albright hereditary osteodystrophy		Orphanet:457062	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018700	Orphanet:457062	disease_grouping|ordo_group_of_disorders
UBERON:0015329	biolink:AnatomicalEntity	respiratory system basement membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015329		
MONDO:0018703	biolink:Disease	isolated splenogonadal fusion		UMLS:CN242095|Orphanet:457083	mondo.json	SGF	http://purl.obolibrary.org/obo/MONDO_0018703	Orphanet:457083|UMLS:CN242095	ordo_morphological_anomaly
MONDO:0018702	biolink:Disease	Castleman-Kojima disease	A clinicopathologic variant of multicentric Castleman's disease characterized by thrombocytopenia, ascites (anasarca), microcytic anemia, myelofibrosis, renal dysfunction, and organomegaly	Orphanet:457077|UMLS:CN237773	mondo.json	thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome|TAFRO syndrome	http://purl.obolibrary.org/obo/MONDO_0018702	Orphanet:457077|UMLS:CN237773	ordo_disease
UBERON:0003359	biolink:AnatomicalEntity	epithelium of submandibular gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003359		
UBERON:0003357	biolink:AnatomicalEntity	epithelium of tongue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003357		
UBERON:0003358	biolink:AnatomicalEntity	epithelium of soft palate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003358		
MONDO:0006709	biolink:Disease	common bile duct neoplasm	Tumor or cancer of the common bile duct including the ampulla of vater and the sphincter of oddi.	UMLS:C0009442|MESH:D003138|SCTID:126857009|EFO:1000876|DOID:4608	mondo.json	neoplasm of common bile duct|common bile duct tumor|tumor of common bile duct|common bile duct neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0006709	UMLS:C0009442|http://identifiers.org/snomedct/126857009|DOID:4608|http://identifiers.org/mesh/D003138	
MONDO:0006707	biolink:Disease	obsolete MONDO:0006707			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006707		
UBERON:0003353	biolink:AnatomicalEntity	epithelium of hindgut			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003353		
MONDO:0006708	biolink:Disease	Desulfovibrionaceae infectious disease	Infections with bacteria of the family Desulfovibrionaceae.	EFO:1000875|MESH:D045824	mondo.json	Bilophila infections|infection, Desulfovibrio|Desulfovibrionaceae caused disease or disorder|infections, Desulfovibrionaceae|Desulfovibrionaceae disease or disorder|infection, Lawsonia|Bilophila infection|Desulfovibrio infection|infection, Desulfovibrionaceae|infections, Lawsonia|Lawsonia infection|infections, Bilophila|Lawsonia infections|commensal Bilophila infection|Desulfovibrionaceae infection|infections, Desulfovibrio|Desulfovibrio infections|infection, Bilophila	http://purl.obolibrary.org/obo/MONDO_0006708	http://identifiers.org/mesh/D045824	
UBERON:0003354	biolink:AnatomicalEntity	epithelium of rectum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003354		
GO:0070482	biolink:NamedThing	response to oxygen levels	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of oxygen.		mondo.json		http://purl.obolibrary.org/obo/GO_0070482		
MONDO:0006727	biolink:Disease	diastolic heart failure	Heart failure caused by abnormal myocardial relaxation during diastole leading to defective cardiac filling.	ICD9:428.3|EFO:1000899|DOID:9775|MedDRA:10069211|MESH:D054144|ICD9:428.30|SCTID:418304008|UMLS:C1135196	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006727	http://identifiers.org/snomedct/418304008|DOID:9775|UMLS:C1135196|http://identifiers.org/mesh/D054144	
MONDO:0006728	biolink:Disease	obsolete discitis	OBSOLETE. Inflammation of an intervertebral disc or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others.	EFO:1000900|MESH:D015299|ICD9:722.90|UMLS:C0012624|SCTID:2304001|DOID:10986	mondo.json	intervertebral disk inflammation|inflammation of intervertebral disk	http://purl.obolibrary.org/obo/MONDO_0006728	DOID:10986|http://identifiers.org/mesh/D015299|http://identifiers.org/snomedct/2304001|UMLS:C0012624	
GO:0070483	biolink:NamedThing	detection of hypoxia	The series of events in which a stimulus indicating lowered oxygen tension is received by a cell and converted into a molecular signal. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.		mondo.json	detection of reduced oxygen levels	http://purl.obolibrary.org/obo/GO_0070483		
MONDO:0006725	biolink:Disease	obsolete diabetic angiopathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006725		
MONDO:0006726	biolink:Disease	diaphragmatic eventration	A congenital or acquired abnormality characterized by elevation of the hemidiaphragm.	EFO:1000898|SCTID:34168003|MESH:D003965|HP:0009110|DOID:10480	mondo.json	diaphragmatic eventration|diaphragmatic eventration (disease)	http://purl.obolibrary.org/obo/MONDO_0006726	http://identifiers.org/snomedct/34168003|DOID:10480|http://identifiers.org/mesh/D003965	
MONDO:0006723	biolink:Disease	denture stomatitis	Inflammation of the mouth due to denture irritation.	SCTID:69254008|MESH:D013282|DOID:11875|EFO:1000893|ICD9:528.9|UMLS:C0038364	mondo.json	denture sore mouth	http://purl.obolibrary.org/obo/MONDO_0006723	DOID:11875|http://identifiers.org/mesh/D013282|UMLS:C0038364|http://identifiers.org/snomedct/69254008	
MONDO:0006724	biolink:Disease	obsolete desmoplastic small round cell tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006724		
MONDO:0006721	biolink:Disease	de Quervain disease	Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to overuse injury or is associated with rheumatoid arthritis.	ICD9:727.04|SCTID:21794005|MESH:D053684|DOID:14107|EFO:1000891|UMLS:C0149870	mondo.json	tenosynovitis, de Quervain's|radial styloid tenosynovitis	http://purl.obolibrary.org/obo/MONDO_0006721	http://identifiers.org/snomedct/21794005|UMLS:C0149870|DOID:14107|http://identifiers.org/mesh/D053684	
PATO:0070006	biolink:NamedThing	bipolar morphology	A cell morphology that inheres in neurons which have two principal fibres (dendrites or axon) that emerge from the soma and begin to branch some distance from it, have few spines, and branch in narrow fields. This is in contrast to bitufted morphology where branching occurs close to the soma.		mondo.json		http://purl.obolibrary.org/obo/PATO_0070006		
UBERON:0003339	biolink:AnatomicalEntity	ganglion of central nervous system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003339		
MONDO:0006722	biolink:Disease	dental fluorosis	A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel.	MedDRA:10016819|ICD10CM:K00.3|NCIT:C85059|UMLS:C0026618|DOID:13711|SCTID:30265004|EFO:1000892|MESH:D009050|ICD9:520.3	mondo.json	mottled teeth|fluorosis|intrinsic enamel discolouration of fluorosis|mottling of enamel	http://purl.obolibrary.org/obo/MONDO_0006722	http://purl.bioontology.org/ontology/ICD10CM/K00.3|http://identifiers.org/mesh/D009050|http://identifiers.org/snomedct/30265004|UMLS:C0026618|DOID:13711|NCIT:C85059	
CHEBI:48901	biolink:ChemicalSubstance	thiazoles	An azole in which the five-membered heterocyclic aromatic skeleton contains a N atom and one S atom.		mondo.json	thiazole	http://purl.obolibrary.org/obo/CHEBI_48901		
MONDO:0006720	biolink:Disease	cystic, mucinous, and serous neoplasm	Neoplasms containing cyst-like formations or producing mucin or serum.	EFO:1000889|MESH:D018297	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006720	http://identifiers.org/mesh/D018297	
PATO:0070002	biolink:NamedThing	basket cell morphology	A cell morphology that inheres in multipolar neurons with densely branched terminal axonal arborizations that form basket-like structures surrounding and synapsing to the somas of target cells.		mondo.json		http://purl.obolibrary.org/obo/PATO_0070002		
UBERON:0003346	biolink:AnatomicalEntity	mucosa of rectum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003346		
MONDO:0006718	biolink:Disease	cutaneous syphilis	Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)	MESH:D013591|EFO:1000887	mondo.json	Treponema pallidum skin disease caused by bacterial infection|Treponema pallidum caused skin disease caused by bacterial infection	http://purl.obolibrary.org/obo/MONDO_0006718	http://identifiers.org/mesh/D013591	
OBO:ECTO_9001687	biolink:NamedThing	exposure to micronutrient	An exposure to micronutrient.		mondo.json	exposure to micronutrient	http://purl.obolibrary.org/obo/ECTO_9001687		
UBERON:0003342	biolink:AnatomicalEntity	mucosa of anal canal			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003342		
MONDO:0006719	biolink:Disease	obsolete cystic lymphangioma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006719		
UBERON:0003343	biolink:AnatomicalEntity	mucosa of oral region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003343		
GO:0006023	biolink:NamedThing	aminoglycan biosynthetic process	The chemical reactions and pathways resulting in the formation of aminoglycans, any polymer containing amino groups that consists of more than about 10 monosaccharide residues joined to each other by glycosidic linkages.		mondo.json	aminoglycan anabolism|aminoglycan biosynthesis|aminoglycan synthesis|aminoglycan formation	http://purl.obolibrary.org/obo/GO_0006023		
GO:0006024	biolink:NamedThing	glycosaminoglycan biosynthetic process	The chemical reactions and pathways resulting in the formation of glycosaminoglycans, any of a group of polysaccharides that contain amino sugars.		mondo.json	glycosaminoglycan formation|glycosaminoglycan biosynthesis|glycosaminoglycan anabolism|glycosaminoglycan synthesis	http://purl.obolibrary.org/obo/GO_0006024		
GO:0006022	biolink:NamedThing	aminoglycan metabolic process	The chemical reactions and pathways involving aminoglycans, any polymer containing amino groups that consists of more than about 10 monosaccharide residues joined to each other by glycosidic linkages.		mondo.json	aminoglycan metabolism	http://purl.obolibrary.org/obo/GO_0006022		
GO:0045639	biolink:NamedThing	positive regulation of myeloid cell differentiation	Any process that activates or increases the frequency, rate or extent of myeloid cell differentiation.		mondo.json	up-regulation of myeloid cell differentiation|activation of myeloid cell differentiation|upregulation of myeloid cell differentiation|up regulation of myeloid cell differentiation|stimulation of myeloid cell differentiation	http://purl.obolibrary.org/obo/GO_0045639		
GO:0045637	biolink:NamedThing	regulation of myeloid cell differentiation	Any process that modulates the frequency, rate or extent of myeloid cell differentiation.		mondo.json		http://purl.obolibrary.org/obo/GO_0045637		
GO:0045638	biolink:NamedThing	negative regulation of myeloid cell differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of myeloid cell differentiation.		mondo.json	downregulation of myeloid cell differentiation|down regulation of myeloid cell differentiation|inhibition of myeloid cell differentiation|down-regulation of myeloid cell differentiation	http://purl.obolibrary.org/obo/GO_0045638		
GO:0045642	biolink:NamedThing	positive regulation of basophil differentiation	Any process that activates or increases the frequency, rate or extent of basophil differentiation.		mondo.json	up-regulation of basophil differentiation|activation of basophil differentiation|upregulation of basophil differentiation|up regulation of basophil differentiation|stimulation of basophil differentiation	http://purl.obolibrary.org/obo/GO_0045642		
GO:0045640	biolink:NamedThing	regulation of basophil differentiation	Any process that modulates the frequency, rate or extent of basophil differentiation.		mondo.json		http://purl.obolibrary.org/obo/GO_0045640		
GO:0045641	biolink:NamedThing	negative regulation of basophil differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of basophil differentiation.		mondo.json	down regulation of basophil differentiation|inhibition of basophil differentiation|down-regulation of basophil differentiation|downregulation of basophil differentiation	http://purl.obolibrary.org/obo/GO_0045641		
MONDO:0800025	biolink:Disease	Teebi hypertelorism syndrome 1	A rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes.	GARD:0000957|OMIM:145420|Orphanet:1519|UMLS:C0796179|UMLS:CN199596|SCTID:724284005	mondo.json	Brachycephalofrontonasal dysplasia|hypertelorism, Teebi type|Teebi syndrome|craniofrontonasal dysplasia, Teebi type|Teebi hypertelorism syndrome	http://purl.obolibrary.org/obo/MONDO_0800025	UMLS:C0796179|Orphanet:1519|https://omim.org/entry/145420|http://identifiers.org/snomedct/724284005|UMLS:CN199596	ordo_malformation_syndrome
HGNC:16902	biolink:NamedThing	BCKDK			mondo.json		http://identifiers.org/hgnc/16902		
HGNC:16905	biolink:NamedThing	KLHL41			mondo.json		http://identifiers.org/hgnc/16905		
MONDO:0800028	biolink:Disease	dyskinesia with orofacial involvement, autosomal dominant	A rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.	SCTID:763352005|ICD10CM:G51.4|Orphanet:324588|MESH:C564676|GARD:0012722|UMLS:C1847627|OMIM:606703	mondo.json	dyskinesia, familial, with facial myokymia|ADCY5-related dyskinesia|FDFM	http://purl.obolibrary.org/obo/MONDO_0800028	Orphanet:324588|UMLS:C1847627|https://omim.org/entry/606703|http://identifiers.org/snomedct/763352005|http://identifiers.org/mesh/C564676	ordo_disease
GO:0045648	biolink:NamedThing	positive regulation of erythrocyte differentiation	Any process that activates or increases the frequency, rate or extent of erythrocyte differentiation.		mondo.json	up regulation of erythrocyte differentiation|activation of erythrocyte differentiation|positive regulation of RBC differentiation|stimulation of erythrocyte differentiation|upregulation of erythrocyte differentiation|positive regulation of red blood cell differentiation|up-regulation of erythrocyte differentiation	http://purl.obolibrary.org/obo/GO_0045648		
MONDO:0800029	biolink:Disease	interstitial lung disease 2	A nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.	Orphanet:79126|DOID:0050156|EFO:0000768|OMIM:616373|ICD9:516.31|GARD:0008609|OMIM:616371|OMIM:178500|ICD10CM:J84.112|OMIM:614742|MESH:D054990|Orphanet:2032|SCTID:196125002|MedDRA:10021240|NCIT:C35716	mondo.json	fibrocystic pulmonary dysplasia|CFA|cryptogenic fibrosing alveolitis|UIP|fibrosing alveolitis|interstitial pneumonitis, usual|ILD2|idiopathic pulmonary fibrosis, familial|usual interstitial pneumonia|familial idiopathic pulmonary fibrosis|IPF|pulmonary fibrosis, idiopathic|Hamman-rich disease|fibrosing alveolitis, cryptogenic	http://purl.obolibrary.org/obo/MONDO_0800029	http://identifiers.org/snomedct/196125002|Orphanet:2032|https://omim.org/entry/178500|NCIT:C35716|DOID:0050156|http://purl.bioontology.org/ontology/ICD10CM/J84.112|http://identifiers.org/mesh/D054990	ordo_disease|gard_rare
GO:0045649	biolink:NamedThing	regulation of macrophage differentiation	Any process that modulates the frequency, rate or extent of macrophage differentiation.		mondo.json		http://purl.obolibrary.org/obo/GO_0045649		
MONDO:0800026	biolink:Disease	central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.	UMLS:C1275808|ICD10CM:G47.3|DOID:0060731|MedDRA:10066131|SCTID:230499002|OMIM:209880|NCIT:C98889|GARD:0008535|Orphanet:661|MedDRA:10007982	mondo.json	idiopathic congenital central alveolar hypoventilation|congenital central hypoventilation|autonomic control, congenital failure of|Ondine's curse (formerly)|Haddad syndrome|CCHS|Ondine curse (formerly)|Ondine syndrome|CCHS with Hirschsprung disease|Ondine curse|central hypoventilation syndrome, congenital|primary alveolar hypoventilation|Ondine-Hirschsprung disease|congenital central hypoventilation syndrome|congenital Ondine curse|Ondine curse, congenital|central congenital hypoventilation syndrome|congenital central alveolar hypoventilation syndrome|congenital failure of autonomic control	http://purl.obolibrary.org/obo/MONDO_0800026	UMLS:C1275808|http://identifiers.org/snomedct/230499002|https://omim.org/entry/209880|Orphanet:661|DOID:0060731|NCIT:C98889	gard_rare|clingen|ordo_disease
GO:0045646	biolink:NamedThing	regulation of erythrocyte differentiation	Any process that modulates the frequency, rate or extent of erythrocyte differentiation.		mondo.json	regulation of red blood cell differentiation|regulation of RBC differentiation	http://purl.obolibrary.org/obo/GO_0045646		
HGNC:16901	biolink:NamedThing	SPEG			mondo.json		http://identifiers.org/hgnc/16901		
MONDO:0800027	biolink:Disease	leukoencephalopathy, diffuse hereditary, with spheroids 1	A rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.	OMIM:221820|NCIT:C153289|SCTID:702427005|DOID:0080523|ICD9:323.81|MESH:C580150|GARD:0010981|UMLS:C3711381|Orphanet:313808	mondo.json	gliosis, familial progressive subcortical|familial dementia, Neumann type|HDLS|leukoencephalopathy, hereditary diffuse, with spheroids|FPSG|hereditary diffuse leukoencephalopathy with axonal spheroids|familial progressive subcortical gliosis|hereditary diffuse leukoencephalopathy with spheroids|GPSC|leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia|autosomal dominant leukoencephalopathy with neuroaxonal spheroids|ALSP|adult-onset leukoencephalopathy with axonal spheroids and pigmented glia|subcortical gliosis of Neumann|POLD|pigmentary orthochromatic leukodystrophy|leukoencephalopathy, diffuse hereditary, with spheroids|adult-onset leukodystrophy with neuroaxonal spheroids|leukoencephalopathy with neuroaxonal spheroids, autosomal dominant|dementia, familial, Neumann type|neuroaxonal leukodystrophy	http://purl.obolibrary.org/obo/MONDO_0800027	Orphanet:313808|NCIT:C153289|https://omim.org/entry/221820|DOID:0080523|UMLS:C3711381|http://identifiers.org/snomedct/702427005|http://identifiers.org/mesh/C580150	ordo_disease
GO:0045647	biolink:NamedThing	negative regulation of erythrocyte differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of erythrocyte differentiation.		mondo.json	down-regulation of erythrocyte differentiation|negative regulation of RBC differentiation|negative regulation of red blood cell differentiation|down regulation of erythrocyte differentiation|inhibition of erythrocyte differentiation|downregulation of erythrocyte differentiation	http://purl.obolibrary.org/obo/GO_0045647		
GO:0006006	biolink:NamedThing	glucose metabolic process	The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides.		mondo.json	cellular glucose metabolic process|glucose metabolism	http://purl.obolibrary.org/obo/GO_0006006		
GO:0045655	biolink:NamedThing	regulation of monocyte differentiation	Any process that modulates the frequency, rate or extent of monocyte differentiation.		mondo.json		http://purl.obolibrary.org/obo/GO_0045655		
GO:0045656	biolink:NamedThing	negative regulation of monocyte differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of monocyte differentiation.		mondo.json	down regulation of monocyte differentiation|inhibition of monocyte differentiation|down-regulation of monocyte differentiation|downregulation of monocyte differentiation	http://purl.obolibrary.org/obo/GO_0045656		
RO:0003001	biolink:NamedThing	produced by	a produced_by b iff some process that occurs_in b has_output a.		mondo.json		http://purl.obolibrary.org/obo/RO_0003001		
GO:0045653	biolink:NamedThing	negative regulation of megakaryocyte differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of megakaryocyte differentiation.		mondo.json	down-regulation of megakaryocyte differentiation|down regulation of megakaryocyte differentiation|inhibition of megakaryocyte differentiation|downregulation of megakaryocyte differentiation	http://purl.obolibrary.org/obo/GO_0045653		
GO:0045654	biolink:NamedThing	positive regulation of megakaryocyte differentiation	Any process that activates or increases the frequency, rate or extent of megakaryocyte differentiation.		mondo.json	stimulation of megakaryocyte differentiation|upregulation of megakaryocyte differentiation|up-regulation of megakaryocyte differentiation|up regulation of megakaryocyte differentiation|activation of megakaryocyte differentiation	http://purl.obolibrary.org/obo/GO_0045654		
MONDO:0800031	biolink:Disease	central hypoventilation syndrome, congenital		OMIMPS:209880	mondo.json		http://purl.obolibrary.org/obo/MONDO_0800031	https://omim.org/phenotypicSeries/PS209880	
GO:0045651	biolink:NamedThing	positive regulation of macrophage differentiation	Any process that activates or increases the frequency, rate or extent of macrophage differentiation.		mondo.json	upregulation of macrophage differentiation|up regulation of macrophage differentiation|stimulation of macrophage differentiation|up-regulation of macrophage differentiation|activation of macrophage differentiation	http://purl.obolibrary.org/obo/GO_0045651		
MONDO:0800032	biolink:Disease	MELAS syndrome caused by mutation in MTTL1	Any MELAS syndromein which the cause of the disease is a mutation in the MTTL1 gene.		mondo.json	MTTL1 MELAS syndrome	http://purl.obolibrary.org/obo/MONDO_0800032		
GO:0006000	biolink:NamedThing	fructose metabolic process	The chemical reactions and pathways involving fructose, the ketohexose arabino-2-hexulose. Fructose exists in a open chain form or as a ring compound. D-fructose is the sweetest of the sugars and is found free in a large number of fruits and honey.		mondo.json	fructose metabolism	http://purl.obolibrary.org/obo/GO_0006000		
GO:0045652	biolink:NamedThing	regulation of megakaryocyte differentiation	Any process that modulates the frequency, rate or extent of megakaryocyte differentiation.		mondo.json		http://purl.obolibrary.org/obo/GO_0045652		
RO:0003000	biolink:NamedThing	produces	a produces b if some process that occurs_in a has_output b, where a and b are material entities. Examples: hybridoma cell line produces monoclonal antibody reagent; chondroblast produces avascular GAG-rich matrix.		mondo.json		http://purl.obolibrary.org/obo/RO_0003000		
MONDO:0800030	biolink:Disease	gastrointestinal defects and immunodeficiency syndrome 1	A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood.	OMIM:243150|Orphanet:436252	mondo.json	intestinal atresia, multiple|MINAT|CID-MIA/early-onset IBD|FIPA|familial intestinal polyatresia syndrome|combined immunodeficiency-enteropathy spectrum|multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0800030	Orphanet:436252|https://omim.org/entry/243150	
GO:0045650	biolink:NamedThing	negative regulation of macrophage differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage differentiation.		mondo.json	downregulation of macrophage differentiation|down regulation of macrophage differentiation|inhibition of macrophage differentiation|down-regulation of macrophage differentiation	http://purl.obolibrary.org/obo/GO_0045650		
MONDO:0800035	biolink:Disease	MELAS syndrome caused by mutation in MTTK	Any MELAS syndromein which the cause of the disease is a mutation in the MTTK gene.		mondo.json	MTTK MELAS syndrome	http://purl.obolibrary.org/obo/MONDO_0800035		
MONDO:0800036	biolink:Disease	MELAS syndrome caused by mutation in MTTC	Any MELAS syndromein which the cause of the disease is a mutation in the MTTC gene.		mondo.json	MTTC MELAS syndrome	http://purl.obolibrary.org/obo/MONDO_0800036		
MONDO:0800033	biolink:Disease	MELAS syndrome caused by mutation in MTTQ	Any MELAS syndromein which the cause of the disease is a mutation in the MTTQ gene.		mondo.json	MTTQ MELAS syndrome	http://purl.obolibrary.org/obo/MONDO_0800033		
MONDO:0800034	biolink:Disease	MELAS syndrome caused by mutation in MTTH	Any MELAS syndromein which the cause of the disease is a mutation in the MTTH gene.		mondo.json	MTTH MELAS syndrome	http://purl.obolibrary.org/obo/MONDO_0800034		
MONDO:0800039	biolink:Disease	MELAS syndrome caused by mutation in MTND5	Any MELAS syndromein which the cause of the disease is a mutation in the MTND5 gene.		mondo.json	MTND5 MELAS syndrome	http://purl.obolibrary.org/obo/MONDO_0800039		
GO:0045657	biolink:NamedThing	positive regulation of monocyte differentiation	Any process that activates or increases the frequency, rate or extent of monocyte differentiation.		mondo.json	upregulation of monocyte differentiation|up regulation of monocyte differentiation|stimulation of monocyte differentiation|up-regulation of monocyte differentiation|activation of monocyte differentiation	http://purl.obolibrary.org/obo/GO_0045657		
GO:0070613	biolink:NamedThing	regulation of protein processing	Any process that modulates the frequency, rate or extent of protein processing, a protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein.		mondo.json	regulation of protein maturation by peptide bond cleavage	http://purl.obolibrary.org/obo/GO_0070613		
MONDO:0800037	biolink:Disease	MELAS syndrome caused by mutation in MTTS1	Any MELAS syndromein which the cause of the disease is a mutation in the MTTS1 gene.		mondo.json	MTTS1 MELAS syndrome	http://purl.obolibrary.org/obo/MONDO_0800037		
MONDO:0800038	biolink:Disease	MELAS syndrome caused by mutation in MTND1	Any MELAS syndromein which the cause of the disease is a mutation in the MTND1 gene.		mondo.json	MTND1 MELAS syndrome	http://purl.obolibrary.org/obo/MONDO_0800038		
NCBITaxon:1980517	biolink:OrganismalEntity	Orthonairovirus		GC_ID:1	mondo.json	Nairovirus|Nairoviruses	http://purl.obolibrary.org/obo/NCBITaxon_1980517		
NCBITaxon:1980519	biolink:OrganismalEntity	Crimean-Congo hemorrhagic fever orthonairovirus		GC_ID:1	mondo.json	Crimean-Congo hemorrhagic virus|Crimean-Congo hemorrhagic fever nairovirus|Crimean-Congo hemorrhagic fever virus|Crimean-Congo haemorrhagic fever virus|CCHFV	http://purl.obolibrary.org/obo/NCBITaxon_1980519		
GO:0045666	biolink:NamedThing	positive regulation of neuron differentiation	Any process that activates or increases the frequency, rate or extent of neuron differentiation.		mondo.json	up-regulation of neuron differentiation|activation of neuron differentiation|upregulation of neuron differentiation|up regulation of neuron differentiation|stimulation of neuron differentiation	http://purl.obolibrary.org/obo/GO_0045666		
GO:0045667	biolink:NamedThing	regulation of osteoblast differentiation	Any process that modulates the frequency, rate or extent of osteoblast differentiation.		mondo.json		http://purl.obolibrary.org/obo/GO_0045667		
GO:0006012	biolink:NamedThing	galactose metabolic process	The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose.		mondo.json	galactose metabolism	http://purl.obolibrary.org/obo/GO_0006012		
GO:0043005	biolink:NamedThing	neuron projection	A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.		mondo.json	neuron protrusion|neurite|neuronal cell projection|neuron process|nerve fiber	http://purl.obolibrary.org/obo/GO_0043005		
GO:0045664	biolink:NamedThing	regulation of neuron differentiation	Any process that modulates the frequency, rate or extent of neuron differentiation.		mondo.json		http://purl.obolibrary.org/obo/GO_0045664		
GO:0045665	biolink:NamedThing	negative regulation of neuron differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of neuron differentiation.		mondo.json	downregulation of neuron differentiation|down regulation of neuron differentiation|inhibition of neuron differentiation|down-regulation of neuron differentiation	http://purl.obolibrary.org/obo/GO_0045665		
MONDO:0800042	biolink:Disease	restrictive dermopathy 1	A a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.	SCTID:400128006|DOID:0060762|MESH:C536920|Orphanet:1662|GARD:0001516|OMIM:275210|UMLS:C0406585	mondo.json	fetal hypokinesia sequence due to restrictive dermopathy|tight skin contracture syndrome, lethal|restrictive dermopathy 1, lethal|lethal restrictive dermopathy|tight skin contracture syndrome|restrictive dermopathy|restrictive dermopathy, lethal|hyperkeratosis-contracture syndrome	http://purl.obolibrary.org/obo/MONDO_0800042	UMLS:C0406585|http://identifiers.org/snomedct/400128006|Orphanet:1662|http://identifiers.org/mesh/C536920|DOID:0060762|https://omim.org/entry/275210	ordo_disease
MONDO:0800043	biolink:Disease	Stüve-Wiedemann syndrome 1	A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.	MESH:C537502|UMLS:C0796176|UMLS:C0432240|GARD:0005045|Orphanet:3206|SCTID:254097005|OMIM:601559	mondo.json	Stüve-Wiedemann dysplasia|Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome|STWS|STUVE-Wiedemann syndrome|Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome|neonatal Schwartz-Jampel syndrome|Schwartz-Jampel syndrome neonatal|Schwartz-Jampel syndrome type 2|Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome|Schwartz-Jampel syndrome, type 2|Stüve-Wiedemann syndrome|Stws|Schwartz-Jampel syndrome, neonatal|Stuve-Wiedemann syndrome|SWS|SJS2|neonatal Schwartz-Jampel syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0800043	http://identifiers.org/mesh/C537502|UMLS:C0432240|http://identifiers.org/snomedct/254097005|https://omim.org/entry/601559|UMLS:C0796176|Orphanet:3206	ordo_malformation_syndrome
MONDO:0800040	biolink:Disease	MELAS syndrome caused by mutation in MTND6	Any MELAS syndromein which the cause of the disease is a mutation in the MTND6 gene.		mondo.json	MTND6 MELAS syndrome	http://purl.obolibrary.org/obo/MONDO_0800040		
MONDO:0800041	biolink:Disease	MELAS syndrome caused by mutation in MTTS2	Any MELAS syndromein which the cause of the disease is a mutation in the MTTS2 gene.		mondo.json	MTTS2 MELAS syndrome	http://purl.obolibrary.org/obo/MONDO_0800041		
MONDO:0800046	biolink:Disease	thyroid hormone metabolism, abnormal 1	A rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.	Orphanet:171706|UMLS:C1864761|MESH:C566454|OMIM:609698	mondo.json	THMA1|thyroid hormone metabolism, abnormal|short stature-delayed bone age due to thyroid hormone metabolism deficiency	http://purl.obolibrary.org/obo/MONDO_0800046	http://identifiers.org/mesh/C566454|https://omim.org/entry/609698|UMLS:C1864761|Orphanet:171706	ordo_disease
MONDO:0800047	biolink:Disease	macrothrombocytopenia, isolated, 1, autosomal dominant	Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene.	MESH:C567747|OMIM:613112|UMLS:C2751259|DOID:0090102	mondo.json	TUBB1 autosomal dominant macrothrombocytopenia|macrothrombocytopenia, autosomal dominant, TUBB1-related|autosomal dominant macrothrombocytopenia TUBB1-related|autosomal dominant macrothrombocytopenia caused by mutation in TUBB1|MACTHC1	http://purl.obolibrary.org/obo/MONDO_0800047	http://identifiers.org/mesh/C567747|DOID:0090102|UMLS:C2751259|https://omim.org/entry/613112	
MONDO:0800044	biolink:Disease	congenital disorder of deglycosylation 1	A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.	Orphanet:404454|UMLS:C3808991|GARD:0012315|OMIM:615273|SCTID:768846004|DOID:0060728|NCIT:C126746	mondo.json	NGLY1-CDDG|NGLY1 deficiency|congenital disorder of glycosylation type IV|congenital disorder of deglycosylation 1|CDG1V|congenital disorder of deglycosylation|CDDG|NGLY1-deficiency|CDG IV, formerly|deficiency of N-glycanase 1|alacrimia - choreoathetosis - liver dysfunction syndrome|congenital disorder of glycosylation, type IV, formerly|CDG IV|congenital disorder of glycosylation, type IV|congenital disorder of deglycosylation;CDDG	http://purl.obolibrary.org/obo/MONDO_0800044	https://omim.org/entry/615273|Orphanet:404454|NCIT:C126746|DOID:0060728|UMLS:C3808991|http://identifiers.org/snomedct/768846004	ordo_disease|clingen
MONDO:0800045	biolink:Disease	autoinflammatory syndrome, familial, Behcet-like 1		UMLS:C4225218|Orphanet:476102|OMIM:616744	mondo.json	Behçet-like disease due to haploinsufficiency of A20|autoinflammatory syndrome, familial, Behcet-like|Behçet-like disease due to HA20|autoinflammatory syndrome, familial, Behcet-like 1|AISBL|hereditary pediatric Behçet-like disease	http://purl.obolibrary.org/obo/MONDO_0800045	UMLS:C4225218|Orphanet:476102|https://omim.org/entry/616744	ordo_disease
GO:0045668	biolink:NamedThing	negative regulation of osteoblast differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of osteoblast differentiation.		mondo.json	downregulation of osteoblast differentiation|down regulation of osteoblast differentiation|inhibition of osteoblast differentiation|down-regulation of osteoblast differentiation	http://purl.obolibrary.org/obo/GO_0045668		
GO:0043009	biolink:NamedThing	chordate embryonic development	The process whose specific outcome is the progression of the embryo over time, from zygote formation through a stage including a notochord and neural tube until birth or egg hatching.		mondo.json		http://purl.obolibrary.org/obo/GO_0043009		
GO:0045669	biolink:NamedThing	positive regulation of osteoblast differentiation	Any process that activates or increases the frequency, rate or extent of osteoblast differentiation.		mondo.json	up regulation of osteoblast differentiation|stimulation of osteoblast differentiation|up-regulation of osteoblast differentiation|activation of osteoblast differentiation|upregulation of osteoblast differentiation	http://purl.obolibrary.org/obo/GO_0045669		
GO:0045670	biolink:NamedThing	regulation of osteoclast differentiation	Any process that modulates the frequency, rate or extent of osteoclast differentiation.		mondo.json		http://purl.obolibrary.org/obo/GO_0045670		
UBERON:0003409	biolink:AnatomicalEntity	gland of tongue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003409		
GO:0033605	biolink:NamedThing	positive regulation of catecholamine secretion	Any process that activates or increases the frequency, rate or extent of the regulated release of a catecholamine.		mondo.json	up-regulation of catecholamine secretion|up regulation of catecholamine secretion|activation of catecholamine secretion|stimulation of catecholamine secretion|upregulation of catecholamine secretion	http://purl.obolibrary.org/obo/GO_0033605		
GO:0033604	biolink:NamedThing	negative regulation of catecholamine secretion	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a catecholamine.		mondo.json	down regulation of catecholamine secretion|inhibition of catecholamine secretion|downregulation of catecholamine secretion|down-regulation of catecholamine secretion	http://purl.obolibrary.org/obo/GO_0033604		
GO:0033603	biolink:NamedThing	positive regulation of dopamine secretion	Any process that activates or increases the frequency, rate or extent of the regulated release of dopamine.		mondo.json	upregulation of dopamine secretion|up regulation of dopamine secretion|stimulation of dopamine secretion|up-regulation of dopamine secretion|activation of dopamine secretion	http://purl.obolibrary.org/obo/GO_0033603		
UBERON:0003408	biolink:AnatomicalEntity	gland of digestive tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003408		
GO:0033602	biolink:NamedThing	negative regulation of dopamine secretion	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of dopamine.		mondo.json	down regulation of dopamine secretion|inhibition of dopamine secretion|down-regulation of dopamine secretion|downregulation of dopamine secretion	http://purl.obolibrary.org/obo/GO_0033602		
UBERON:0003405	biolink:AnatomicalEntity	lobar bronchus of left lung			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003405		
GO:0008645	biolink:NamedThing	hexose transmembrane transport	The process in which hexose is transported across a membrane. Hexoses are aldoses with a chain of six carbon atoms in the molecule.		mondo.json	hexose transport|low-affinity hexose transport|high-affinity hexose transport|hexose membrane transport	http://purl.obolibrary.org/obo/GO_0008645		
UBERON:0003406	biolink:AnatomicalEntity	cartilage of respiratory system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003406		
GO:0008643	biolink:NamedThing	carbohydrate transport	The directed movement of carbohydrate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carbohydrates are a group of organic compounds based of the general formula Cx(H2O)y.		mondo.json	sugar transport	http://purl.obolibrary.org/obo/GO_0008643		
GO:0043010	biolink:NamedThing	camera-type eye development	The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field.		mondo.json		http://purl.obolibrary.org/obo/GO_0043010		
GO:0045671	biolink:NamedThing	negative regulation of osteoclast differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of osteoclast differentiation.		mondo.json	downregulation of osteoclast differentiation|down regulation of osteoclast differentiation|inhibition of osteoclast differentiation|down-regulation of osteoclast differentiation	http://purl.obolibrary.org/obo/GO_0045671		
GO:0045672	biolink:NamedThing	positive regulation of osteoclast differentiation	Any process that activates or increases the frequency, rate or extent of osteoclast differentiation.		mondo.json	up-regulation of osteoclast differentiation|activation of osteoclast differentiation|upregulation of osteoclast differentiation|up regulation of osteoclast differentiation|stimulation of osteoclast differentiation	http://purl.obolibrary.org/obo/GO_0045672		
GO:0043011	biolink:NamedThing	myeloid dendritic cell differentiation	The process in which a monocyte acquires the specialized features of a dendritic cell, an immunocompetent cell of the lymphoid and hemopoietic systems and skin.		mondo.json		http://purl.obolibrary.org/obo/GO_0043011		
UBERON:0003414	biolink:AnatomicalEntity	mesenchyme of mandible			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003414		
UBERON:0003412	biolink:AnatomicalEntity	pelvic appendage bud mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003412		
UBERON:0003413	biolink:AnatomicalEntity	pectoral appendage bud mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003413		
UBERON:0003410	biolink:AnatomicalEntity	oropharyngeal gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003410		
HGNC:1706	biolink:NamedThing	CD8A			mondo.json		http://identifiers.org/hgnc/1706		
GO:0055007	biolink:NamedThing	cardiac muscle cell differentiation	The process in which a cardiac muscle precursor cell acquires specialized features of a cardiac muscle cell. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction.		mondo.json	cardiomyocyte differentiation|heart muscle cell differentiation	http://purl.obolibrary.org/obo/GO_0055007		
HGNC:1701	biolink:NamedThing	CD81			mondo.json		http://identifiers.org/hgnc/1701		
GO:0043025	biolink:NamedThing	neuronal cell body	The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.		mondo.json	neuronal cell soma|neuron cell body	http://purl.obolibrary.org/obo/GO_0043025		
GO:0008654	biolink:NamedThing	phospholipid biosynthetic process	The chemical reactions and pathways resulting in the formation of a phospholipid, a lipid containing phosphoric acid as a mono- or diester.		mondo.json	phospholipid anabolism|phospholipid biosynthesis|phospholipid synthesis|phospholipid formation	http://purl.obolibrary.org/obo/GO_0008654		
GO:0008652	biolink:NamedThing	cellular amino acid biosynthetic process	The chemical reactions and pathways resulting in the formation of amino acids, organic acids containing one or more amino substituents.		mondo.json	cellular amino acid synthesis|cellular amino acid biosynthesis|cellular amino acid formation|cellular amino acid anabolism|amino acid biosynthetic process	http://purl.obolibrary.org/obo/GO_0008652		
GO:0045684	biolink:NamedThing	positive regulation of epidermis development	Any process that activates or increases the frequency, rate or extent of epidermis development.		mondo.json	up regulation of epidermis development|positive regulation of epidermal development|positive regulation of hypodermis development|activation of epidermis development|stimulation of epidermis development|upregulation of epidermis development|up-regulation of epidermis development	http://purl.obolibrary.org/obo/GO_0045684		
MONDO:0800064	biolink:Disease	osteogenesis imperfecta and a reduction of bone mineral density.	A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density.	HP:0004349	mondo.json		http://purl.obolibrary.org/obo/MONDO_0800064		
CHR:9606-chr9p1	biolink:NamedThing	9p1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr9p1		
GO:0043020	biolink:NamedThing	NADPH oxidase complex	A enzyme complex of which the core is a heterodimer composed of a light (alpha) and heavy (beta) chain, and requires several other water-soluble proteins of cytosolic origin for activity. Functions in superoxide generation by the NADPH-dependent reduction of O2.		mondo.json	respiratory-burst oxidase|flavocytochrome b558	http://purl.obolibrary.org/obo/GO_0043020		
GO:0045682	biolink:NamedThing	regulation of epidermis development	Any process that modulates the frequency, rate or extent of epidermis development.		mondo.json	regulation of hypodermis development|regulation of epidermal development	http://purl.obolibrary.org/obo/GO_0045682		
CHEBI:22271	biolink:ChemicalSubstance	aflatoxin	Any of a group of related and highly toxic secondary metabolites (mycotoxins) whose main structural feature is a fused coumarin-bis(dihydrofuran) ring system and which are produced by strains of the moulds Aspergillus flavus or A. parasiticus, together with further metabolites of these mycotoxins		mondo.json	aflatoxins	http://purl.obolibrary.org/obo/CHEBI_22271		
GO:0045683	biolink:NamedThing	negative regulation of epidermis development	Any process that stops, prevents, or reduces the frequency, rate or extent of epidermis development.		mondo.json	negative regulation of epidermal development|down-regulation of epidermis development|down regulation of epidermis development|inhibition of epidermis development|negative regulation of hypodermis development|downregulation of epidermis development	http://purl.obolibrary.org/obo/GO_0045683		
MONDO:0800063	biolink:Disease	primordial dwarfism and slender bone disorder	A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800063		
MONDO:0800066	biolink:Disease	polydactyly-syndactyly-triphalangism	Any skeletal dysplasia that is characterizedby polydactyly, syndactyly and triphalangism, where a digit has three phalanges instead of two.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800066		
GO:0070626	biolink:NamedThing	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity	Catalysis of the reaction: (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate = fumarate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide.		mondo.json	adenylosuccinase activity|(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|adenylosuccinate lyase activity|succino AMP-lyase activity|SAICAR-lyase (fumarate forming) activity	http://purl.obolibrary.org/obo/GO_0070626		
UBERON:0003403	biolink:AnatomicalEntity	skin of forearm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003403		
UBERON:0003404	biolink:AnatomicalEntity	lobar bronchus of right lung			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003404		
CHEBI:48873	biolink:ChemicalSubstance	cholinergic antagonist	Any drug that binds to but does not activate cholinergic receptors, thereby blocking the actions of acetylcholine or cholinergic agonists.		mondo.json	agente anticolinergico|agent anticholinergique|Anticholinergika|acetylcholine receptor antagonist|Anticholinergikum|anticholinergiques|cholinergic-blocking agents|anticholinergics|anticolinergicos|anticholinergic agents|agentes anticolinergicos|acetylcholine antagonists	http://purl.obolibrary.org/obo/CHEBI_48873		
HGNC:1718	biolink:NamedThing	CDC14A			mondo.json		http://identifiers.org/hgnc/1718		
GO:0043030	biolink:NamedThing	regulation of macrophage activation	Any process that modulates the frequency or rate of macrophage activation.		mondo.json	regulation of macrophage polarization	http://purl.obolibrary.org/obo/GO_0043030		
HGNC:1713	biolink:NamedThing	CDAN1			mondo.json		http://identifiers.org/hgnc/1713		
GO:0043032	biolink:NamedThing	positive regulation of macrophage activation	Any process that stimulates, induces or increases the rate of macrophage activation.		mondo.json	up-regulation of macrophage activation|up regulation of macrophage activation|activation of macrophage activation|positive regulation of macrophage polarization|stimulation of macrophage activation|upregulation of macrophage activation	http://purl.obolibrary.org/obo/GO_0043032		
MONDO:0800075	biolink:Disease	dysostosis with predominant vertebral with and without costal involvement	Any dysostosis that involves the vertebrae, with or without involvement of the the ribs or the upper sides of the body.	Orphanet:93454	mondo.json		http://purl.obolibrary.org/obo/MONDO_0800075		
GO:0043031	biolink:NamedThing	negative regulation of macrophage activation	Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage activation.		mondo.json	inhibition of macrophage activation|downregulation of macrophage activation|negative regulation of macrophage polarization|down-regulation of macrophage activation|down regulation of macrophage activation	http://purl.obolibrary.org/obo/GO_0043031		
CHEBI:36885	biolink:ChemicalSubstance	20-oxo steroid	An oxo steroid carrying an oxo group at position 20.		mondo.json	20-oxo steroids	http://purl.obolibrary.org/obo/CHEBI_36885		
MONDO:0800080	biolink:Disease	severe spondylodysplastic dysplasia	An instance of spondylodysplastic dysplasia that has a high degree of severity.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0800080		
GO:0043043	biolink:NamedThing	peptide biosynthetic process	The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide.		mondo.json	peptide synthesis|peptide formation|peptide biosynthesis|peptide anabolism	http://purl.obolibrary.org/obo/GO_0043043		
MONDO:0800086	biolink:Disease	primary bone dysplasia with multiple joint dislocations		Orphanet:93441	mondo.json	primary osteodysplasia with multiple joint dislocations|primary skeletal dysplasia with multiple joint dislocations	http://purl.obolibrary.org/obo/MONDO_0800086	Orphanet:93441	ordo_group_of_disorders
MONDO:0800087	biolink:Disease	type 11 collagen-related bone disorder		Orphanet:93422	mondo.json		http://purl.obolibrary.org/obo/MONDO_0800087	Orphanet:93422	ordo_group_of_disorders
MONDO:0800084	biolink:Disease	primary bone dysplasia with increased bone density		UMLS:CN043667|Orphanet:93444	mondo.json	primary skeletal dysplasia with increased bone density|primary osteodysplasia with increased bone density|sclerosing bone dysplasia	http://purl.obolibrary.org/obo/MONDO_0800084	Orphanet:93444|UMLS:CN043667	ordo_group_of_disorders
MONDO:0800085	biolink:Disease	dysostosis with predominant craniofacial involvement		Orphanet:93453	mondo.json		http://purl.obolibrary.org/obo/MONDO_0800085	Orphanet:93453	disease_grouping|ordo_group_of_disorders
MONDO:0800088	biolink:Disease	lysosomal storage disease with skeletal involvement		ICD9:756.9|UMLS:CN206618|Orphanet:93448|SCTID:254069004	mondo.json	dysostosis multiplex	http://purl.obolibrary.org/obo/MONDO_0800088	http://identifiers.org/snomedct/254069004|UMLS:CN206618|Orphanet:93448	ordo_group_of_disorders
MONDO:0800089	biolink:Disease	primary bone dysplasia with disorganized development of skeletal components		Orphanet:93450	mondo.json	primary osteodysplasia with disorganized development of skeletal components|primary skeletal dysplasia with disorganized development of skeletal components	http://purl.obolibrary.org/obo/MONDO_0800089	Orphanet:93450	ordo_group_of_disorders
GO:0055025	biolink:NamedThing	positive regulation of cardiac muscle tissue development	Any process that activates, maintains or increases the frequency, rate or extent of cardiac muscle tissue development.		mondo.json	up regulation of cardiac muscle development|stimulation of cardiac muscle development|up-regulation of cardiac muscle development|activation of cardiac muscle development|positive regulation of heart muscle development|upregulation of cardiac muscle development	http://purl.obolibrary.org/obo/GO_0055025		
GO:0055026	biolink:NamedThing	negative regulation of cardiac muscle tissue development	Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle tissue development.		mondo.json	downregulation of cardiac muscle development|negative regulation of heart muscle development|down regulation of cardiac muscle development|inhibition of cardiac muscle development|down-regulation of cardiac muscle development	http://purl.obolibrary.org/obo/GO_0055026		
CHEBI:46209	biolink:ChemicalSubstance	L-tyrosinal	An amino aldehyde that is L-tyrosine in which the carboxy group has undergone formal redution to give the corrresponding aldehyde		mondo.json	(2S)-2-amino-3-(4-hydroxyphenyl)propanal|(2S)-2-amino-3-(p-hydroxyphenyl)propanal|L-tyr aldehyde|TYROSINAL	http://purl.obolibrary.org/obo/CHEBI_46209		
GO:0070643	biolink:NamedThing	vitamin D 25-hydroxylase activity	Catalysis of the hydroxylation of C-25 of any form of vitamin D.		mondo.json	vitamin D2 25-hydroxylase activity|calciferol 25-hydroxylase activity|ergocalciferol 25-hydroxylase activity|cholecalciferol 25-hydroxylase activity	http://purl.obolibrary.org/obo/GO_0070643		
GO:0070640	biolink:NamedThing	vitamin D3 metabolic process	The chemical reactions and pathways involving vitamin D3, (3S,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol.		mondo.json	cholecalciferol metabolic process|vitamin D3 metabolism|calciol metabolic process	http://purl.obolibrary.org/obo/GO_0070640		
GO:0055024	biolink:NamedThing	regulation of cardiac muscle tissue development	Any process that modulates the frequency, rate or extent of cardiac muscle tissue development.		mondo.json	regulation of heart muscle development	http://purl.obolibrary.org/obo/GO_0055024		
HP:0005368	biolink:PhenotypicFeature	Abnormality of humoral immunity	An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system.	UMLS:C3150510	mondo.json	Defective humoral immunity	http://purl.obolibrary.org/obo/HP_0005368		
MONDO:0018590	biolink:Disease	ABeta2M amyloidosis		Orphanet:439246	mondo.json	Beta2-microglobulinic amyloidosis	http://purl.obolibrary.org/obo/MONDO_0018590	Orphanet:439246	ordo_group_of_disorders|disease_grouping
MONDO:0018592	biolink:Disease	cutaneous polyarteritis nodosa	Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy.	Orphanet:439729|UMLS:CN242143|GARD:0007415|UMLS:C0343190|NCIT:C117295|SCTID:239926000|ICD9:709.8	mondo.json	cutaneous PAN|cutaneous periarteritis nodosa	http://purl.obolibrary.org/obo/MONDO_0018592	http://identifiers.org/snomedct/239926000|Orphanet:439729|NCIT:C117295|UMLS:CN242143|UMLS:C0343190	ordo_clinical_subtype|gard_rare
MONDO:0018591	biolink:Disease	ITM2B amyloidosis		UMLS:CN237622|ICD10EXP:E85.4+|Orphanet:439254|SCTID:45639009|ICD9:277.39|ICD10EXP:I68.0*	mondo.json	familial cerebral amyloid angiopathy|ITM2B-related amyloidosis|ITM2B-related cerebral amyloid angiopathy	http://purl.obolibrary.org/obo/MONDO_0018591	UMLS:CN237622|Orphanet:439254|http://identifiers.org/snomedct/45639009	ordo_disease
MONDO:0043576	biolink:Disease	endarteritis	Inflammation of the arterial intima.	EFO:0009084|SCTID:33806008|NCIT:C34581|MESH:D004692|UMLS:C0014100	mondo.json	tunica intima of artery inflammation|endarteritis|Endarteritides|inflammation of tunica intima of artery	http://purl.obolibrary.org/obo/MONDO_0043576	http://identifiers.org/snomedct/33806008|http://identifiers.org/mesh/D004692|UMLS:C0014100|NCIT:C34581	
RO:0040035	biolink:NamedThing	disease relationship	This relation groups  relations between diseases and any other kind of entity.		mondo.json		http://purl.obolibrary.org/obo/RO_0040035		
OBO:ECTO_9001702	biolink:NamedThing	exposure to macronutrient	An exposure to macronutrient.		mondo.json	exposure to macronutrient	http://purl.obolibrary.org/obo/ECTO_9001702		
OBO:ECTO_9001701	biolink:NamedThing	exposure to reagent	An exposure to reagent.		mondo.json	exposure to reagent	http://purl.obolibrary.org/obo/ECTO_9001701		
HP:0030347	biolink:PhenotypicFeature	Abnormal circulating androgen level	An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.	UMLS:C4072892	mondo.json		http://purl.obolibrary.org/obo/HP_0030347		
HP:0030348	biolink:PhenotypicFeature	Increased circulating androgen concentration	An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.	UMLS:C4072893	mondo.json	Increased circulating androgen level	http://purl.obolibrary.org/obo/HP_0030348		
MONDO:0018598	biolink:Disease	obsolete neonatal adrenoleukodystrophy	OBSOLETE. Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD).	NCIT:C99251|Orphanet:44|SCTID:238061001|ICD10CM:E71.511|GARD:0000559|OMIM:601539|UMLS:C0282525	mondo.json	NALD|adrenoleukodystrophy autosomal neonatal form	http://purl.obolibrary.org/obo/MONDO_0018598	http://identifiers.org/snomedct/238061001|UMLS:C0282525|NCIT:C99251|Orphanet:44|http://purl.bioontology.org/ontology/ICD10CM/E71.511	gard_rare|ordo_disease
MONDO:0018597	biolink:Disease	plastic bronchitis	A lymphatic flow disorder that causes severe respiratory issues. In children with plastic bronchitis, lymph fluid builds in the airways and forms rubbery or caulk-like plugs (known as casts). These casts block the airways, making it difficult to breathe.	UMLS:C0264342|SCTID:53926002|Orphanet:439881	mondo.json	croupous bronchitis|fibrinous bronchitis|pseudo-membranous bronchitis	http://purl.obolibrary.org/obo/MONDO_0018597	http://identifiers.org/snomedct/53926002|UMLS:C0264342|Orphanet:439881	ordo_clinical_situation
MONDO:0018599	biolink:Disease	congenital oculomotor nerve palsy		Orphanet:440221	mondo.json	congenital third cranial nerve palsy|congenital CNIII lesion	http://purl.obolibrary.org/obo/MONDO_0018599	Orphanet:440221	ordo_disease
MONDO:0018594	biolink:Disease	secondary polyarteritis nodosa	Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV).	UMLS:CN237624|Orphanet:439746	mondo.json	secondary PAN|Scondary PAN|secondary periarteritis nodosa	http://purl.obolibrary.org/obo/MONDO_0018594	UMLS:CN237624|Orphanet:439746	ordo_clinical_subtype
MONDO:0018593	biolink:Disease	primary polyarteritis nodosa		UMLS:CN237623|Orphanet:439737	mondo.json	primary periarteritis nodosa|primary PAN	http://purl.obolibrary.org/obo/MONDO_0018593	UMLS:CN237623|Orphanet:439737	ordo_clinical_subtype
HP:0005372	biolink:PhenotypicFeature	Abnormality of B cell physiology	An abnormality of the physiological functioning of B cells.	UMLS:C1849242	mondo.json	Abnormality of B cell physiology|Reduced B cell function	http://purl.obolibrary.org/obo/HP_0005372		
MONDO:0018596	biolink:Disease	systemic polyarteritis nodosa	Systemic polyarteritis nodosa (PAN) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement.	Orphanet:439762|UMLS:CN242146	mondo.json	systemic periarteritis nodosa|systemic PAN	http://purl.obolibrary.org/obo/MONDO_0018596	UMLS:CN242146|Orphanet:439762	ordo_clinical_subtype
MONDO:0018595	biolink:Disease	single-organ polyarteritis nodosa	Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN and relapses appear to be more common.	UMLS:CN242112|Orphanet:439755	mondo.json	single-organ PAN|single-organ periarteritis nodosa	http://purl.obolibrary.org/obo/MONDO_0018595	UMLS:CN242112|Orphanet:439755	ordo_clinical_subtype
MONDO:0018581	biolink:Disease	progressive encephalomyelitis with rigidity and myoclonus		UMLS:C1861457|GARD:0013110|Orphanet:438266	mondo.json	perm	http://purl.obolibrary.org/obo/MONDO_0018581	UMLS:C1861457|Orphanet:438266	ordo_clinical_subtype|gard_rare
MONDO:0018580	biolink:Disease	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome		Orphanet:438213|UMLS:CN237608	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018580	UMLS:CN237608|Orphanet:438213	ordo_disease
MONDO:0006598	biolink:Disease	phototoxic dermatitis	Dermatitis caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight.	MESH:D017484|SCTID:53597009|UMLS:C0162830|EFO:1000753|DOID:4407|Wikipedia:Photodermatitis|NCIT:C4816	mondo.json	Photodermatitis|photosensitive dermatitis|photosensitiveness|photosensitivity reaction|Photosensitisation reaction	http://purl.obolibrary.org/obo/MONDO_0006598	NCIT:C4816|DOID:4407|UMLS:C0162830|http://identifiers.org/snomedct/53597009|http://identifiers.org/mesh/D017484	
MONDO:0006599	biolink:Disease	physical urticaria	A distinct subgroup of the urticaria that are induced by an exogenous physical stimulus rather than occurring spontaneously.	DOID:0060220|EFO:1000754|SCTID:402601007	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006599	DOID:0060220|http://identifiers.org/snomedct/402601007	
MONDO:0043589	biolink:Disease	femoral neck fracture	Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES.	SCTID:5913000|EFO:1001792|MESH:D005265	mondo.json	fracture of neck of femur|femur neck fracture|nof - fracture of neck of femur|neck of femur bone fracture|femur neck fractures|fracture of hip|femoral neck fracture|bone fracture of neck of femur	http://purl.obolibrary.org/obo/MONDO_0043589	http://identifiers.org/snomedct/5913000|http://identifiers.org/mesh/D005265	
MONDO:0006596	biolink:Disease	photoallergic dermatitis	A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin.	DOID:3818|EFO:1000751|UMLS:C0162824|MESH:D017454|Wikipedia:Photodermatitis|SCTID:111209006|ICD9:692.72	mondo.json	photoallergic contact dermatitis|photoallergic eczema	http://purl.obolibrary.org/obo/MONDO_0006596	UMLS:C0162824|http://identifiers.org/snomedct/111209006|DOID:3818|http://identifiers.org/mesh/D017454	
MONDO:0006597	biolink:Disease	photosensitivity disease	Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy.	EFO:1000752|MESH:D010787|UMLS:C0031762|DOID:3159|SCTID:22649008	mondo.json	disorder, photosensitivity|photosensitization|photodermatosis|photodermatitis|photodermatitides|disorders, photosensitivity|photosensitivity disorder	http://purl.obolibrary.org/obo/MONDO_0006597	UMLS:C0031762|DOID:3159|http://identifiers.org/snomedct/22649008|http://identifiers.org/mesh/D010787	
MONDO:0006594	biolink:Disease	pemphigus	Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus	MESH:D010392|ICD10CM:L10|DOID:9182|SCTID:65172003|ICD9:694.4|UMLS:C0030807|EFO:1000749|Wikipedia:Pemphigus|NCIT:C34909|GARD:0007352	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006594	UMLS:C0030807|NCIT:C34909|http://identifiers.org/snomedct/65172003|http://identifiers.org/mesh/D010392|http://purl.bioontology.org/ontology/ICD10CM/L10|DOID:9182	gard_rare
MONDO:0006595	biolink:Disease	perinatal jaundice due to hepatocellular damage	Jaundice in perinates due to cellular damange of liver.	UMLS:C0158976|EFO:1000750|SCTID:10877007|DOID:11452|ICD9:774.4	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006595	UMLS:C0158976|DOID:11452|http://identifiers.org/snomedct/10877007	
MONDO:0006592	biolink:Disease	parapsoriasis	Parapsoriasis describes a group ofskin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation and a lack of a specific diagnostic finding on histopathology, a uniformly accepted definition of parapsoriasis remains lacking. There are 2 general forms: a small plaque type, which is usually benign, and a large plaque type, which is a precursor of cutaneous T-cell lymphoma (CTCL).Treatment of small plaque parapsoriasis is unnecessary but can include emollients, topical tar preparations or corticosteroids, and/or phototherapy. Treatment of large plaque parapsoriasis is phototherapy or topical corticosteroids.	UMLS:C0030491|MESH:D010267|NCIT:C3312|Wikipedia:Parapsoriasis|GARD:0007328|SCTID:88233000|ICD9:696.2|EFO:1000747|ICD10CM:L41|DOID:9088	mondo.json	digitate dermatosis|parapsoriasis en plaque	http://purl.obolibrary.org/obo/MONDO_0006592	UMLS:C0030491|http://identifiers.org/snomedct/88233000|http://identifiers.org/mesh/D010267|DOID:9088|http://purl.bioontology.org/ontology/ICD10CM/L41|NCIT:C3312	gard_rare
MONDO:0006593	biolink:Disease	pelvic lipomatosis	A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males.	GARD:0007350|MESH:C535549|NCIT:C27486|EFO:1000748|UMLS:C0406608|DOID:3927	mondo.json	pelvic lipomatosis (morphologic abnormality)|Excess of mature unencapsulated fatty tissue in the pelvis|pelvic lipomatosis	http://purl.obolibrary.org/obo/MONDO_0006593	UMLS:C0406608|http://identifiers.org/mesh/C535549|DOID:3927|NCIT:C27486	gard_rare
MONDO:0006590	biolink:Disease	palmoplantar keratosis	A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis.	DOID:3390|GARD:0008167|ICD9:757.39|SCTID:706885006|EFO:1000745|NCIT:C34748	mondo.json	keratosis palmaris et plantaris|palmoplantar keratoderma|keratoderma, palmoplantar	http://purl.obolibrary.org/obo/MONDO_0006590	NCIT:C34748|http://identifiers.org/snomedct/706885006|DOID:3390	
GO:0006094	biolink:NamedThing	gluconeogenesis	The formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol.		mondo.json	glucose biosynthesis|glucose biosynthetic process	http://purl.obolibrary.org/obo/GO_0006094		
MONDO:0006591	biolink:Disease	panniculitis	Inflammation of the subcutaneous adipose tissue.	ICD9:729.3|MESH:D015434|Wikipedia:Panniculitis|NCIT:C33645|UMLS:C0030326|EFO:1000746|ICD9:729.39|SCTID:22125009|ICD9:729.30|DOID:1526	mondo.json	Subcutaneous tissue|subcutis|inflammation of subcutaneous adipose tissue|Subcutaneous adipose tissue|subcutaneous adipose tissue inflammation	http://purl.obolibrary.org/obo/MONDO_0006591	UMLS:C0030326|http://identifiers.org/snomedct/22125009|NCIT:C33645|DOID:1526|http://identifiers.org/mesh/D015434	
GO:0006090	biolink:NamedThing	pyruvate metabolic process	The chemical reactions and pathways involving pyruvate, 2-oxopropanoate.		mondo.json	pyruvate dehydrogenase bypass|pyruvate metabolism	http://purl.obolibrary.org/obo/GO_0006090		
MONDO:0043579	biolink:Disease	enteritis	Inflammation of the small intestine.	UMLS:C0014335|NCIT:C26765|SCTID:64613007|MESH:D004751	mondo.json	enteritis of small intestine|inflammation of small intestine|enteritis|Enteritides|enteritis, inflammatory disorder of small intestine|small intestine inflammation	http://purl.obolibrary.org/obo/MONDO_0043579	NCIT:C26765|http://identifiers.org/mesh/D004751|UMLS:C0014335|http://identifiers.org/snomedct/64613007	
GO:0006091	biolink:NamedThing	generation of precursor metabolites and energy	The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances.		mondo.json	energy pathways|intermediary metabolism|metabolic energy generation	http://purl.obolibrary.org/obo/GO_0006091		
MONDO:0018587	biolink:Disease	non-recovering obstetric brachial plexus lesion		UMLS:CN237616|Orphanet:439202	mondo.json	chronic obstetric brachial plexus palsy|non-recovering OBPI|chronic obstetric brachial plexus injury|non-recovering OBPL	http://purl.obolibrary.org/obo/MONDO_0018587	UMLS:CN237616|Orphanet:439202	ordo_disease
MONDO:0018586	biolink:Disease	zinc-responsive necrolytic acral erythema		UMLS:CN237615|Orphanet:439196|SCTID:762543009	mondo.json	NAE|necrolytic acral erythema	http://purl.obolibrary.org/obo/MONDO_0018586	UMLS:CN237615|http://identifiers.org/snomedct/762543009|Orphanet:439196	ordo_clinical_situation
MONDO:0018589	biolink:Disease	AApoAIV amyloidosis		Orphanet:439232	mondo.json	apolipoprotein A-IV amyloidosis	http://purl.obolibrary.org/obo/MONDO_0018589	Orphanet:439232	ordo_disease
MONDO:0018588	biolink:Disease	ALECT2 amyloidosis	A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands.	Orphanet:439224	mondo.json	LECT2 amyloidosis|leukocyte chemotactic factor-2 amyloidosis	http://purl.obolibrary.org/obo/MONDO_0018588	Orphanet:439224	ordo_disease
MONDO:0018583	biolink:Disease	human infection by orthopoxvirus		UMLS:CN237612|Orphanet:438279	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018583	UMLS:CN237612|Orphanet:438279	ordo_disease
MONDO:0018582	biolink:Disease	GCGR-related hyperglucagonemia		Orphanet:438274|UMLS:CN237611|GARD:0010460	mondo.json	Mahvash disease|Nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor|Nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor	http://purl.obolibrary.org/obo/MONDO_0018582	UMLS:CN237611|Orphanet:438274	ordo_disease
MONDO:0018585	biolink:Disease	pediatric arterial ischemic stroke		Orphanet:439175	mondo.json	pediatric AIS|childhood arterial ischemic stroke|childhood AIS	http://purl.obolibrary.org/obo/MONDO_0018585	Orphanet:439175	ordo_clinical_syndrome
MONDO:0018584	biolink:Disease	obsolete placental insufficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018584		
MONDO:0018570	biolink:Disease	hypophosphatasia	Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia).	UMLS:C0020630|MedDRA:10049933|NCIT:C26798|GARD:0006734|Orphanet:436|ICD10CM:E83.3|SCTID:360792001|MESH:D007014|DOID:14213|ICD9:277.6	mondo.json	childhood hypophosphatasia|phosphoethanol-aminuria|deficiency of alkaline phosphatase (disorder) [ambiguous]|hypophospatasia, childhood|Rathburn disease|phosphoethanolaminuria|deficiency of alkaline phosphatase|hypophosphatasia mild|HPP	http://purl.obolibrary.org/obo/MONDO_0018570	DOID:14213|Orphanet:436|http://identifiers.org/mesh/D007014|http://identifiers.org/snomedct/360792001|NCIT:C26798|UMLS:C0020630	ordo_disease
GO:0006099	biolink:NamedThing	tricarboxylic acid cycle	A nearly universal metabolic pathway in which the acetyl group of acetyl coenzyme A is effectively oxidized to two CO2 and four pairs of electrons are transferred to coenzymes. The acetyl group combines with oxaloacetate to form citrate, which undergoes successive transformations to isocitrate, 2-oxoglutarate, succinyl-CoA, succinate, fumarate, malate, and oxaloacetate again, thus completing the cycle. In eukaryotes the tricarboxylic acid is confined to the mitochondria. See also glyoxylate cycle.		mondo.json	TCA cycle|Krebs cycle|citric acid cycle	http://purl.obolibrary.org/obo/GO_0006099		
GO:0006096	biolink:NamedThing	glycolytic process	The chemical reactions and pathways resulting in the breakdown of a carbohydrate into pyruvate, with the concomitant production of a small amount of ATP and the reduction of NAD(P) to NAD(P)H. Glycolysis begins with the metabolism of a carbohydrate to generate products that can enter the pathway and ends with the production of pyruvate. Pyruvate may be converted to acetyl-coenzyme A, ethanol, lactate, or other small molecules.		mondo.json	anaerobic glycolysis|glycolysis|Embden-Meyerhof-Parnas pathway|Embden-Meyerhof pathway|modifed Embden-Meyerhof pathway	http://purl.obolibrary.org/obo/GO_0006096		
MONDO:0018579	biolink:Disease	disorder of ketone body transport		UMLS:CN237600|Orphanet:438072	mondo.json	disorder of ketone body transport|disorder of keton body transport	http://purl.obolibrary.org/obo/MONDO_0018579	Orphanet:438072|UMLS:CN237600	ordo_group_of_disorders|disease_grouping
MONDO:0018576	biolink:Disease	non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy		Orphanet:436271	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018576	Orphanet:436271	ordo_disease
MONDO:0018575	biolink:Disease	microcephalic primordial dwarfism-insulin resistance syndrome		Orphanet:436182|UMLS:CN237592	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018575	Orphanet:436182|UMLS:CN237592	ordo_malformation_syndrome
MONDO:0018578	biolink:Disease	obsolete hypophosphatemic rickets			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018578		
MONDO:0018577	biolink:Disease	pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa		Orphanet:436274|UMLS:CN237597	mondo.json	PXE-like syndrome with retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0018577	Orphanet:436274|UMLS:CN237597	ordo_disease
MONDO:0018572	biolink:Disease	severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome		Orphanet:436141|UMLS:CN237585	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018572	Orphanet:436141|UMLS:CN237585	ordo_malformation_syndrome
MONDO:0018571	biolink:Disease	contractures-developmental delay-Pierre Robin syndrome		UMLS:CN237584|Orphanet:436003	mondo.json	5q23 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0018571	Orphanet:436003|UMLS:CN237584	ordo_malformation_syndrome
MONDO:0018574	biolink:Disease	intellectual disability-expressive aphasia-facial dysmorphism syndrome		Orphanet:436151|UMLS:CN237587	mondo.json	intellectual disability-loss of expressive language-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0018574	Orphanet:436151|UMLS:CN237587	ordo_disease
GO:0033692	biolink:NamedThing	cellular polysaccharide biosynthetic process	The chemical reactions and pathways resulting in the formation of polysaccharides, polymers of many (typically more than 10) monosaccharide residues linked glycosidically, occurring at the level of an individual cell.		mondo.json	cellular polysaccharide anabolism|cellular polysaccharide synthesis|cellular polysaccharide formation|cellular polysaccharide biosynthesis|cellular glycan biosynthetic process|cellular glycan biosynthesis	http://purl.obolibrary.org/obo/GO_0033692		
MONDO:0018573	biolink:Disease	intrauterine growth restriction-short stature-early adult-onset diabetes syndrome		UMLS:CN237586|Orphanet:436144	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018573	Orphanet:436144|UMLS:CN237586	ordo_disease
MONDO:0043523	biolink:Disease	cadmium poisoning	Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis.	MESH:D002105|SCTID:3398004	mondo.json	Itai Itai|cadmium Poisonings|Poisonings, cadmium|Itai-Itai|poisoning, cadmium|cadmium poisoning	http://purl.obolibrary.org/obo/MONDO_0043523	http://identifiers.org/snomedct/3398004|http://identifiers.org/mesh/D002105	
GO:0006066	biolink:NamedThing	alcohol metabolic process	The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom.		mondo.json	alcohol metabolism	http://purl.obolibrary.org/obo/GO_0006066		
GO:0006073	biolink:NamedThing	cellular glucan metabolic process	The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues, occurring at the level of an individual cell.		mondo.json	cellular glucan metabolism	http://purl.obolibrary.org/obo/GO_0006073		
MONDO:0043519	biolink:Disease	burn	A traumatic injury involving interruption of tissue cohesiveness that results from exposure to caustic chemicals, extreme heat, extreme cold or excessive radiation.	EFO:1001768|NCIT:C34441|MESH:D002056|SCTID:125666000|ICD10CM:T20-T25	mondo.json	burn|Burn|Burn(s)	http://purl.obolibrary.org/obo/MONDO_0043519	http://identifiers.org/mesh/D002056|NCIT:C34441|http://purl.bioontology.org/ontology/ICD10CM/T20-T25|http://identifiers.org/snomedct/125666000	
GO:0006071	biolink:NamedThing	glycerol metabolic process	The chemical reactions and pathways involving glycerol, 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids.		mondo.json	glycerol metabolism	http://purl.obolibrary.org/obo/GO_0006071		
HGNC:26291	biolink:NamedThing	BBS10			mondo.json		http://identifiers.org/hgnc/26291		
GO:0033686	biolink:NamedThing	positive regulation of luteinizing hormone secretion	Any process that activates or increases the frequency, rate or extent of the regulated release of luteinizing hormone.		mondo.json	up-regulation of luteinizing hormone secretion|up regulation of luteinizing hormone secretion|activation of luteinizing hormone secretion|stimulation of luteinizing hormone secretion|upregulation of luteinizing hormone secretion	http://purl.obolibrary.org/obo/GO_0033686		
GO:0033685	biolink:NamedThing	negative regulation of luteinizing hormone secretion	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of luteinizing hormone.		mondo.json	downregulation of luteinizing hormone secretion|inhibition of luteinizing hormone secretion|down-regulation of luteinizing hormone secretion|down regulation of luteinizing hormone secretion	http://purl.obolibrary.org/obo/GO_0033685		
GO:0033684	biolink:NamedThing	regulation of luteinizing hormone secretion	Any process that modulates the frequency, rate or extent of the regulated release of luteinizing hormone.		mondo.json		http://purl.obolibrary.org/obo/GO_0033684		
GO:0033683	biolink:NamedThing	nucleotide-excision repair, DNA incision	A process that results in the endonucleolytic cleavage of the damaged strand of DNA. The incision occurs at the junction of single-stranded DNA and double-stranded DNA that is formed when the DNA duplex is unwound.		mondo.json	DNA incision involved in nucleotide-excision repair|nucleic acid cleavage involved in nucleotide-excision repair	http://purl.obolibrary.org/obo/GO_0033683		
NCIT:C18264	biolink:NamedThing	Pathogenesis			mondo.json		http://purl.obolibrary.org/obo/NCIT_C18264		
GO:0045600	biolink:NamedThing	positive regulation of fat cell differentiation	Any process that activates or increases the frequency, rate or extent of adipocyte differentiation.		mondo.json	positive regulation of adipocyte differentiation|stimulation of fat cell differentiation|up regulation of fat cell differentiation|positive regulation of adipocyte cell differentiation|up-regulation of fat cell differentiation|activation of fat cell differentiation|upregulation of fat cell differentiation	http://purl.obolibrary.org/obo/GO_0045600		
MONDO:0043529	biolink:Disease	carcinoid heart disease	Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation.	UMLS:C0007093|EFO:1001775|MESH:D002275|SCTID:36222008	mondo.json	carcinoid heart diseases|heart diseases, carcinoid|carcinoid heart disease|heart disease, carcinoid	http://purl.obolibrary.org/obo/MONDO_0043529	http://identifiers.org/mesh/D002275|UMLS:C0007093|http://identifiers.org/snomedct/36222008	
GO:0045606	biolink:NamedThing	positive regulation of epidermal cell differentiation	Any process that activates or increases the frequency, rate or extent of epidermal cell differentiation.		mondo.json	stimulation of epidermal cell differentiation|up-regulation of epidermal cell differentiation|activation of epidermal cell differentiation|positive regulation of hypodermal cell differentiation|upregulation of epidermal cell differentiation|up regulation of epidermal cell differentiation	http://purl.obolibrary.org/obo/GO_0045606		
GO:0006082	biolink:NamedThing	organic acid metabolic process	The chemical reactions and pathways involving organic acids, any acidic compound containing carbon in covalent linkage.		mondo.json	organic acid metabolism	http://purl.obolibrary.org/obo/GO_0006082		
GO:0045604	biolink:NamedThing	regulation of epidermal cell differentiation	Any process that modulates the frequency, rate or extent of epidermal cell differentiation.		mondo.json	regulation of hypodermal cell differentiation	http://purl.obolibrary.org/obo/GO_0045604		
GO:0045605	biolink:NamedThing	negative regulation of epidermal cell differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of epidermal cell differentiation.		mondo.json	downregulation of epidermal cell differentiation|down regulation of epidermal cell differentiation|inhibition of epidermal cell differentiation|down-regulation of epidermal cell differentiation|negative regulation of hypodermal cell differentiation	http://purl.obolibrary.org/obo/GO_0045605		
GO:0031012	biolink:NamedThing	extracellular matrix	A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues.		mondo.json	proteinaceous extracellular matrix|matrisome	http://purl.obolibrary.org/obo/GO_0031012		
GO:0033674	biolink:NamedThing	positive regulation of kinase activity	Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.		mondo.json	kinase activator|up-regulation of kinase activity|up regulation of kinase activity|stimulation of kinase activity|upregulation of kinase activity	http://purl.obolibrary.org/obo/GO_0033674		
GO:0033673	biolink:NamedThing	negative regulation of kinase activity	Any process that stops, prevents, or reduces the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.		mondo.json	down regulation of kinase activity|downregulation of kinase activity|inhibition of kinase activity|kinase inhibitor|down-regulation of kinase activity	http://purl.obolibrary.org/obo/GO_0033673		
HGNC:14291	biolink:NamedThing	NLGN1			mondo.json		http://identifiers.org/hgnc/14291		
HP:0005390	biolink:PhenotypicFeature	Recurrent opportunistic infections	Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system.	UMLS:C1832324	mondo.json	Frequent opportunistic infections	http://purl.obolibrary.org/obo/HP_0005390		
ENVO:09200000	biolink:NamedThing	temperature of environmental material	The temperature of some environmental material.		mondo.json	environmental material temperature	http://purl.obolibrary.org/obo/ENVO_09200000		
ENVO:09200001	biolink:NamedThing	temperature of air	The temperature of some air.		mondo.json	air temperature	http://purl.obolibrary.org/obo/ENVO_09200001		
ENVO:09200002	biolink:NamedThing	environmental system process quality	The quality of a environmental system process.		mondo.json	quality of environmental system process	http://purl.obolibrary.org/obo/ENVO_09200002		
MONDO:0043543	biolink:Disease	iatrogenic disease	Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment.	MESH:D007049|UMLS:C0020732|ICD9:799.9|SCTID:12456005|ICD10CM:T80-T88	mondo.json	hospital-acquired conditions|iatrogenic disorder|iatrogenic diseases|conditions, hospital-acquired|condition, hospital-acquired|disease, iatrogenic|hospital acquired condition|diseases, iatrogenic|hospital-acquired condition	http://purl.obolibrary.org/obo/MONDO_0043543	http://purl.bioontology.org/ontology/ICD10CM/T80-T88|UMLS:C0020732|http://identifiers.org/snomedct/12456005|http://identifiers.org/mesh/D007049	harrisons_view
ENVO:09200004	biolink:NamedThing	porosity of soil	The porosity of some soil.		mondo.json	soil porosity	http://purl.obolibrary.org/obo/ENVO_09200004		
HGNC:26274	biolink:NamedThing	NARS2			mondo.json		http://identifiers.org/hgnc/26274		
HP:0032973	biolink:PhenotypicFeature	Abnormal bronchoalveolar lavage fluid morphology	Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions.		mondo.json		http://purl.obolibrary.org/obo/HP_0032973		
MONDO:0043544	biolink:Disease	nosocomial infection	An infection acquired in a hospital or other healthcare setting.	SCTID:19168005|NCIT:C115164|UMLS:C0205721|MESH:D003428|EFO:1001299	mondo.json	Cross infections|nosocomial infections|health care associated infections|infections, hospital|hospital infection|infections, Cross|Healthcare associated infection|associated infections, Healthcare|associated infection, Healthcare|nosocomial infection|infection, Cross|Healthcare-associated infection|infection, nosocomial|Healthcare associated infections|nosocomial infectious disease|hospital infections|infections, Healthcare associated|infections, nosocomial|health care associated infection|hospital-acquired infection|HAI|infection, Healthcare associated|hospital-onset infection|infection, hospital	http://purl.obolibrary.org/obo/MONDO_0043544	NCIT:C115164|http://identifiers.org/snomedct/19168005|UMLS:C0205721|http://identifiers.org/mesh/D003428	
ENVO:09200008	biolink:NamedThing	composition of soil	The composition of some soil.		mondo.json	soil composition	http://purl.obolibrary.org/obo/ENVO_09200008		
ENVO:09200009	biolink:NamedThing	structure of soil	The structure of some soil.		mondo.json	soil structure	http://purl.obolibrary.org/obo/ENVO_09200009		
MONDO:0043541	biolink:Disease	viral conjunctivitis	Conjunctivitis resulting from viral infection.	NCIT:C34509|UMLS:C0009774|MESH:D003236|SCTID:45261009	mondo.json	Viruses conjunctivitis (disease)|viral Conjunctivitides|viral conjunctivitis|Viruses caused conjunctivitis (disease)|Conjunctivitides, viral	http://purl.obolibrary.org/obo/MONDO_0043541	http://identifiers.org/mesh/D003236|http://identifiers.org/snomedct/45261009|NCIT:C34509|UMLS:C0009774	
GO:0045619	biolink:NamedThing	regulation of lymphocyte differentiation	Any process that modulates the frequency, rate or extent of lymphocyte differentiation.		mondo.json	regulation of lymphocyte development	http://purl.obolibrary.org/obo/GO_0045619		
GO:0045617	biolink:NamedThing	negative regulation of keratinocyte differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of keratinocyte differentiation.		mondo.json	downregulation of keratinocyte differentiation|down regulation of keratinocyte differentiation|inhibition of keratinocyte differentiation|down-regulation of keratinocyte differentiation	http://purl.obolibrary.org/obo/GO_0045617		
GO:0045618	biolink:NamedThing	positive regulation of keratinocyte differentiation	Any process that activates or increases the frequency, rate or extent of keratinocyte differentiation.		mondo.json	up regulation of keratinocyte differentiation|stimulation of keratinocyte differentiation|up-regulation of keratinocyte differentiation|activation of keratinocyte differentiation|upregulation of keratinocyte differentiation	http://purl.obolibrary.org/obo/GO_0045618		
GO:0045616	biolink:NamedThing	regulation of keratinocyte differentiation	Any process that modulates the frequency, rate or extent of keratinocyte differentiation.		mondo.json		http://purl.obolibrary.org/obo/GO_0045616		
HGNC:26270	biolink:NamedThing	PIEZO2			mondo.json		http://identifiers.org/hgnc/26270		
MONDO:0043537	biolink:Disease	cluster headache syndrome	A headache disorder that is characterized by periodic severe, unilateral orbital, supraorbital, and/or temporal pain, and is associated with ipsilateral cranial autonomic symptoms.	MESH:D003027|Orphanet:1002|NCIT:C117077|EFO:0008571|SCTID:193031009	mondo.json	erythromelalgia of the head|red migraine|neuralgic migraines|chronic cluster headache|cluster headaches|Horton syndrome|atypical cluster headaches|headache, chronic cluster|migraine, neuralgic|cluster headache, episodic|cluster headache, chronic|syndrome, Horton|histamine cephalgias|headache, atypical cluster|syndromes, cluster headache|Hortons syndrome|Cephalgias, histamine|syndrome, cluster headache|Cephalgia, histamine|syndrome, Horton's|histamine cephalgia|migrainous neuralgia|cluster headache, atypical|vasomotor headache|headaches, chronic cluster|cluster headache syndromes|headache, cluster|histamine headache|Horton's headache|cluster headaches, episodic|headaches, episodic cluster|migraines, neuralgic|cluster migraine|atypical cluster headache|headache syndromes, cluster|headache syndrome, cluster|neuralgic migraine|cluster headaches, chronic|chronic cluster headaches|ciliary neuralgias|erythroprosopalgia of bing|headaches, cluster|Horton's syndrome|episodic cluster headaches|beuralgias, ciliary|episodic cluster headache|cluster headaches, atypical|headache, episodic cluster|cluster headache|cluster headache syndrome|ciliary neuralgia|Horton headache|neuralgia, ciliary|headaches, atypical cluster|Horton's neuralgia	http://purl.obolibrary.org/obo/MONDO_0043537	Orphanet:1002|http://identifiers.org/mesh/D003027|http://identifiers.org/snomedct/193031009|NCIT:C117077	
HP:0005387	biolink:PhenotypicFeature	Combined immunodeficiency	A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.	UMLS:C0494261	mondo.json		http://purl.obolibrary.org/obo/HP_0005387		
HGNC:14294	biolink:NamedThing	SHANK3			mondo.json		http://identifiers.org/hgnc/14294		
HGNC:14295	biolink:NamedThing	SHANK2			mondo.json		http://identifiers.org/hgnc/14295		
ENVO:09200011	biolink:NamedThing	pressure of air	The pressure of some air.		mondo.json	air pressure	http://purl.obolibrary.org/obo/ENVO_09200011		
ENVO:09200012	biolink:NamedThing	temperature of soil	The temperature of some soil.		mondo.json	soil temperature	http://purl.obolibrary.org/obo/ENVO_09200012		
ENVO:09200013	biolink:NamedThing	wetness of soil	The wetness of some soil.		mondo.json	soil wetness	http://purl.obolibrary.org/obo/ENVO_09200013		
ENVO:09200014	biolink:NamedThing	temperature of water	The temperature of some water.		mondo.json	water temperature	http://purl.obolibrary.org/obo/ENVO_09200014		
ENVO:09200017	biolink:NamedThing	composition of water	The composition of some water.		mondo.json	water composition	http://purl.obolibrary.org/obo/ENVO_09200017		
GO:0045620	biolink:NamedThing	negative regulation of lymphocyte differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of lymphocyte differentiation.		mondo.json	inhibition of lymphocyte differentiation|negative regulation of lymphocyte development|down-regulation of lymphocyte differentiation|downregulation of lymphocyte differentiation|down regulation of lymphocyte differentiation	http://purl.obolibrary.org/obo/GO_0045620		
MONDO:0043555	biolink:Disease	infantile diarrhea	Diarrhea occurring in infants from newborn to 24-months old.	SCTID:39963006|MESH:D003968|UMLS:C0473132	mondo.json	infantile diarrheal disease|Diarrheas, infantile|toddler diarrhea|infantile onset diarrheal disease|diarrheal disease of infancy|infantile Diarrheas|infantile diarrhea	http://purl.obolibrary.org/obo/MONDO_0043555	UMLS:C0473132|http://identifiers.org/snomedct/39963006|http://identifiers.org/mesh/D003968	
GO:0045621	biolink:NamedThing	positive regulation of lymphocyte differentiation	Any process that activates or increases the frequency, rate or extent of lymphocyte differentiation.		mondo.json	upregulation of lymphocyte differentiation|positive regulation of lymphocyte development|up regulation of lymphocyte differentiation|stimulation of lymphocyte differentiation|up-regulation of lymphocyte differentiation|activation of lymphocyte differentiation	http://purl.obolibrary.org/obo/GO_0045621		
MONDO:0800001	biolink:Disease	delayed sleep phase syndrome, susceptibility to	An inherited susceptibility or predisposition to developing delayed sleep phase syndrome.	OMIM:614163	mondo.json	delayed sleep phase disorder, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0800001	https://omim.org/entry/614163	
MONDO:0043549	biolink:Disease	crush syndrome	A medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle.	MESH:D003444|SCTID:23697004	mondo.json	crush syndromes|crush kidney|renal failure following crushing injury|syndrome, crush|syndromes, crush|bywaters' syndrome|acute renal failure due to rhabdomyolysis|ischemic muscular necrosis syndrome|myoglobinuric acute renal failure|crush syndrome|myoglobinuric nephrosis	http://purl.obolibrary.org/obo/MONDO_0043549	http://identifiers.org/snomedct/23697004|http://identifiers.org/mesh/D003444	
MONDO:0006659	biolink:Disease	arteriosclerosis obliterans	Common occlusive arterial disease which is caused by atherosclerosis. It is characterized by lesions in the innermost layer (arterial intima) of arteries including the aorta and its branches to the extremities. Risk factors include smoking, hyperlipidemia, and hypertension.	DOID:5160|UMLS:C0003851|SCTID:361133006|MedDRA:10065418|EFO:1000820|ICD9:440.8|MESH:D001162	mondo.json	arteriosclerosis obliterans (disorder) [ambiguous]	http://purl.obolibrary.org/obo/MONDO_0006659	DOID:5160|http://identifiers.org/snomedct/361133006|http://identifiers.org/mesh/D001162|UMLS:C0003851	
MONDO:0006657	biolink:Disease	obsolete apparent mineralocorticoid excess syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006657		
MONDO:0006658	biolink:Disease	arteriolosclerosis	The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia.	NCIT:C35543|EFO:1000819|UMLS:C0878486|ICD10CM:I70|DOID:5162|MESH:D050379	mondo.json	arteriolosclerosis (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0006658	NCIT:C35543|DOID:5162|UMLS:C0878486|http://identifiers.org/mesh/D050379	
MONDO:0006655	biolink:Disease	aortic valve prolapse	The downward displacement of the cuspal or pointed end of the trileaflet aortic valve causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ascending aorta back into the left ventricle, leading to aortic regurgitation.	DOID:5232|EFO:1000815|UMLS:C0003505|MESH:D001023|MedDRA:10057454	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006655	UMLS:C0003505|http://identifiers.org/mesh/D001023|DOID:5232	
MONDO:0006656	biolink:Disease	aortitis	Inflammation of the aorta. Causes include trauma, infectious disorders, and connective tissue disorders.	NCIT:C97085|EFO:1000816|MedDRA:10002921|SCTID:70933002|DOID:519|UMLS:C0003509|MESH:D001025	mondo.json	aorta inflammation|inflammation of aorta	http://purl.obolibrary.org/obo/MONDO_0006656	DOID:519|http://identifiers.org/snomedct/70933002|NCIT:C97085|UMLS:C0003509|http://identifiers.org/mesh/D001025	
MONDO:0006653	biolink:Disease	anthracosilicosis	Fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath.	CSP:2596-4484|DOID:10324|MedDRA:10050363|EFO:1000813|MESH:D000874|UMLS:C0003164|NCIT:C34389|SCTID:33548005	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006653	http://identifiers.org/mesh/D000874|http://identifiers.org/snomedct/33548005|DOID:10324|UMLS:C0003164|NCIT:C34389	
MONDO:0006654	biolink:Disease	anthracosis	A chronic lung disorder characterized by deposition of coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. It occurs in coal miners.	UMLS:C0003165|ICD9:500|DOID:10327|NCIT:C34390|SCTID:29422001|MESH:D055008|EFO:1000814|MedDRA:10073051	mondo.json	pneumoconiosis from coal dust|black lung|melanoedema|coal dust pneumoconiosis|coal workers' pneumoconiosis|coal workers' lung|coal miner's pneumoconiosis	http://purl.obolibrary.org/obo/MONDO_0006654	http://identifiers.org/snomedct/29422001|DOID:10327|UMLS:C0003165|http://identifiers.org/mesh/D055008|NCIT:C34390	
MONDO:0006651	biolink:Disease	anterior uveitis	Inflammation of the iris and anterior chamber of the eye.	MESH:D014606|SCTID:410692006|NCIT:C35109|CSP:1114-9593|Orphanet:280886|UMLS:C0042165|HP:0012122|EFO:1000811|MedDRA:10002709|DOID:1407|GARD:0010941	mondo.json	anterior uveitis|anterior uveitis (disease)|iridocyclitis	http://purl.obolibrary.org/obo/MONDO_0006651	DOID:1407|Orphanet:280886|NCIT:C35109|http://identifiers.org/mesh/D014606|UMLS:C0042165|http://identifiers.org/snomedct/410692006	ordo_group_of_disorders|disease_grouping
MONDO:0006652	biolink:Disease	anterolateral myocardial infarction	Myocardial infarction in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction.	DOID:5845|UMLS:C0262564|MedDRA:10068109|EFO:1000812|MESH:D056988	mondo.json	anteroseptal myocardial infarction|myocardial infarctions, anteroseptal|infarction, anterolateral myocardial|infarction, anteroseptal myocardial|myocardial infarction, anterior wall|acute anterior wall myocardial infarction|myocardial infarctions, anterolateral|infarctions, anterolateral myocardial|myocardial infarction, anteroseptal|myocardial infarction, anterolateral|anterolateral myocardial infarction|anterolateral myocardial infarctions|anteroseptal myocardial infarctions|infarctions, anteroseptal myocardial	http://purl.obolibrary.org/obo/MONDO_0006652	DOID:5845|UMLS:C0262564|http://identifiers.org/mesh/D056988	
MONDO:0006650	biolink:Disease	anterior spinal artery syndrome	Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)	DOID:6712|MESH:D020759|SCTID:2972007|UMLS:C0221069|EFO:1000810|ICD9:433.80|MedDRA:10002703	mondo.json	syndromic disease of anterior spinal artery|anterior spinal artery syndromic disease	http://purl.obolibrary.org/obo/MONDO_0006650	UMLS:C0221069|http://identifiers.org/snomedct/2972007|http://identifiers.org/mesh/D020759|DOID:6712	
MONDO:0018649	biolink:Disease	obsolete cerebral visual impairment	OBSOLETE. A vision disorder that results from damage of the part of the cerebral cortex that is involved in the processing of visual information.	NCIT:C35275|UMLS:C0234398|Orphanet:447788|SCTID:413924001|UMLS:CN237707|ICD10CM:H47.6	mondo.json	cortical visual impairment	http://purl.obolibrary.org/obo/MONDO_0018649	http://identifiers.org/snomedct/413924001|UMLS:CN237707|Orphanet:447788|NCIT:C35275	ordo_clinical_syndrome|obsoletion_candidate
MONDO:0018646	biolink:Disease	sclerosing cholangitis	A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure.	NCIT:C4828|HP:0030991|UMLS:C0008313|DOID:14268|EFO:0004268|Orphanet:447771|SCTID:235917005	mondo.json	primary sclerosing cholangitis (PSC)|Primary sclerosing cholangitis|fibrosing cholangitis|sclerosing cholangitis|sclerosing cholangitis (disease)	http://purl.obolibrary.org/obo/MONDO_0018646	DOID:14268|UMLS:C0008313|Orphanet:447771|NCIT:C4828|http://identifiers.org/snomedct/235917005	ordo_group_of_disorders|disease_grouping
MONDO:0018645	biolink:Disease	IgG4-related sclerosing cholangitis		SCTID:722870008|Orphanet:447764|UMLS:C4302109	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018645	UMLS:C4302109|Orphanet:447764|http://identifiers.org/snomedct/722870008	ordo_disease
MONDO:0018648	biolink:Disease	Keratocystic odontogenic tumor	An intraosseous odontogenic neoplasm that usually arises from the mandible. It is characterized by the presence of a single or multiple cysts lined with parakeratinized stratified squamous epithelium. The neoplastic lesions may be solitary or multiple. It has the potential for aggressive behavior, local destruction, and recurrence.	UMLS:C1708604|Orphanet:447777|SCTID:713277006|NCIT:C54302|UMLS:CN237705	mondo.json	odontogenic keratocystoma|KTOC|odontogenic Keratocyst	http://purl.obolibrary.org/obo/MONDO_0018648	UMLS:C1708604|UMLS:CN237705|http://identifiers.org/snomedct/713277006|Orphanet:447777|NCIT:C54302	ordo_disease
MONDO:0018647	biolink:Disease	secondary sclerosing cholangitis		SCTID:197442005|Orphanet:447774|UMLS:C0400978	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018647	Orphanet:447774|http://identifiers.org/snomedct/197442005|UMLS:C0400978	ordo_disease
MONDO:0018642	biolink:Disease	NIK deficiency	A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14).	Orphanet:447731	mondo.json	MAP3K14 non-severe combined immunodeficiency|non-severe combined immunodeficiency caused by mutation in MAP3K14|primary immunodeficiency with multifaceted aberrant lymphoid immunity	http://purl.obolibrary.org/obo/MONDO_0018642	Orphanet:447731	ordo_disease
MONDO:0018641	biolink:Disease	obsolete paroxysmal nocturnal hemoglobinuria			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018641		
MONDO:0018644	biolink:Disease	autosomal dominant complex spastic paraplegia type 9B		Orphanet:447757|UMLS:CN237702	mondo.json	AD-SPG9B	http://purl.obolibrary.org/obo/MONDO_0018644	UMLS:CN237702|Orphanet:447757	ordo_clinical_subtype
MONDO:0018643	biolink:Disease	susceptibility to localized juvenile periodontitis		Orphanet:447740	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018643	Orphanet:447740	ordo_disease|predisposition
MONDO:0018640	biolink:Disease	secondary vasculitis		Orphanet:445197	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018640	Orphanet:445197	ordo_group_of_disorders|disease_grouping
MONDO:0004009	biolink:Disease	kidney pelvis sarcomatoid transitional cell carcinoma	An infiltrating transitional cell carcinoma that arises from the renal pelvis and exhibits sarcomatoid features.	NCIT:C6186|UMLS:C1335752|DOID:6844	mondo.json	renal pelvis sarcomatoid transitional cell carcinoma|infiltrating renal pelvis urothelial carcinoma, sarcomatoid variant|sarcomatoid transitional cell carcinoma of the kidney pelvis|sarcomatoid transitional cell carcinoma of kidney pelvis|kidney pelvis sarcomatoid transitional cell carcinoma|sarcomatoid transitional cell carcinoma of renal pelvis|sarcomatoid transitional cell carcinoma of the renal pelvis	http://purl.obolibrary.org/obo/MONDO_0004009	DOID:6844|NCIT:C6186|UMLS:C1335752	
MONDO:0004008	biolink:Disease	flat ductal epithelial atypia	A breast lesion characterized by the presence of dilated terminal ductal lobular units in which the epithelial lining has been replaced by a single layer of mildly atypical cells, or there is atypical, monotonous epithelial hyperplasia of three to five layers. This lesion relates to columnar cell change with atypia and columnar cell hyperplasia with atypia.	NCIT:C36086|DOID:6841|UMLS:C1333620	mondo.json	ductal intraepithelial neoplasia, grade 1A|flat epithelial atypia|flat ductal epithelial atypia of the breast|FEA|clinging carcinoma|flat ductal epithelial atypia|DIN 1A|flat epithelial atypia of the breast	http://purl.obolibrary.org/obo/MONDO_0004008	UMLS:C1333620|DOID:6841|NCIT:C36086	
MONDO:0004005	biolink:Disease	rete ovarii adenoma	An adenoma that arises from the rete ovarii. It is composed of elongated tubules. The clinical course is benign.	NCIT:C40018|DOID:6837|UMLS:C1514905	mondo.json	rete ovarii adenoma|adenoma, rete ovarii, benign	http://purl.obolibrary.org/obo/MONDO_0004005	UMLS:C1514905|NCIT:C40018|DOID:6837	
MONDO:0006668	biolink:Disease	bacterial conjunctivitis	Inflammation of the conjunctiva caused by a variety of bacterial agents.	DOID:9700|EFO:1000829|MESH:D003234|MedDRA:10061784|UMLS:C0009768|SCTID:243321006|ICD9:372.03|NCIT:C53656	mondo.json	Bacteria caused conjunctival disease|purulent conjunctivitis|Bacteria conjunctival disease	http://purl.obolibrary.org/obo/MONDO_0006668	UMLS:C0009768|http://identifiers.org/mesh/D003234|DOID:9700|http://identifiers.org/snomedct/243321006|NCIT:C53656	
MONDO:0004004	biolink:Disease	motor nerve neuritis	Inflammation of the peripheral motor nerves.	SCTID:95663000|UMLS:C0235025|MESH:D009443|DOID:683|NCIT:C3500	mondo.json	motor neuritis	http://purl.obolibrary.org/obo/MONDO_0004004	DOID:683|UMLS:C0235025	
MONDO:0006669	biolink:Disease	bacterial endocarditis	Endocarditis that is caused by an infection with a bacterial agent.	MedDRA:10004019|MESH:D004697|HP:0006689|SCTID:301183007|UMLS:C0014121|EFO:1000830|NCIT:C128359	mondo.json	bacterial endocarditis|bacterial endocarditis (disease)|Bacteria endocarditis (disease)|Bacteria caused endocarditis (disease)	http://purl.obolibrary.org/obo/MONDO_0006669	NCIT:C128359|http://identifiers.org/mesh/D004697|UMLS:C0014121|http://identifiers.org/snomedct/301183007	
MONDO:0004007	biolink:Disease	breast intraductal proliferative lesion	A group of non-invasive epithelial proliferations that occur in the ductal system of the breast. The vast majority of cases arise in the terminal ductal lobular units. This category includes atypical ductal hyperplasia, usual ductal hyperplasia, flat epithelial atypia, and ductal carcinoma in situ. There is an increased risk for subsequent development of invasive breast carcinoma.	NCIT:C27942|DOID:6839|UMLS:C1334631	mondo.json	ductal intraepithelial neoplasia|DIN|mammary intraepithelial neoplasia, ductal type|intraductal proliferative lesion|intraductal proliferative lesion of the breast	http://purl.obolibrary.org/obo/MONDO_0004007	DOID:6839|NCIT:C27942|UMLS:C1334631	
MONDO:0006666	biolink:Disease	atrophy of thyroid	Tissue degeneration and diminished size of the thyroid gland.	EFO:1000827|ICD9:246.8|NCIT:C26942|MedDRA:10043693|SCTID:190309006|UMLS:C2981141	mondo.json	thyroid gland atrophy|thyroid atrophy	http://purl.obolibrary.org/obo/MONDO_0006666	NCIT:C26942|http://identifiers.org/snomedct/190309006|UMLS:C2981141	
MONDO:0006667	biolink:Disease	obsolete B- and T-cell mixed leukemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006667		
MONDO:0004006	biolink:Disease	rete ovarii cystadenofibroma	An exceptionally rare cystadenofibroma that arises from the rete ovarii.	NCIT:C40020|UMLS:C1514906|DOID:6838	mondo.json	cystadenofibroma of rete ovarii|rete ovarii cystadenofibroma	http://purl.obolibrary.org/obo/MONDO_0004006	DOID:6838|UMLS:C1514906|NCIT:C40020	
MONDO:0006664	biolink:Disease	atrial septal defect	Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart.	MedDRA:10003664|DOID:1882|MESH:D006344|UMLS:C0018817|EFO:1000825|SCTID:253366007|NCIT:C84473|MedDRA:10019308|Orphanet:1478|OMIMPS:108800|MedDRA:10068864	mondo.json	atrial septum defect|atrial septal defect|interatrial communication|interatrial septal defect|congenital atrial septal defect|auricular septal defect|atrioseptal defect|interauricular communication|ASD|interauricular septal defect	http://purl.obolibrary.org/obo/MONDO_0006664	http://identifiers.org/mesh/D006344|UMLS:C0018817|NCIT:C84473|DOID:1882|http://identifiers.org/snomedct/253366007|https://omim.org/phenotypicSeries/PS108800|Orphanet:1478	ordo_morphological_anomaly
MONDO:0004001	biolink:Disease	compartment syndrome	Elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space.	NCIT:C118422|UMLS:C0009492|ICD9:958.90|MESH:D003161|DOID:682|GARD:0006141|SCTID:111245009|ICD9:958.8|SCTID:45781009	mondo.json	compartmental syndrome|compartment syndrome	http://purl.obolibrary.org/obo/MONDO_0004001	http://identifiers.org/mesh/D003161|NCIT:C118422|http://identifiers.org/snomedct/111245009|UMLS:C0009492|DOID:682	gard_rare
MONDO:0004000	biolink:Disease	childhood pilocytic astrocytoma	A pilocytic astrocytoma that occurs during childhood.	UMLS:C1332995|NCIT:C4048|DOID:6812	mondo.json	pilocytic astrocytoma|pediatric pilocytic astrocytoma|childhood pilocytic astrocytoma|pilocytic astrocytoma of childhood	http://purl.obolibrary.org/obo/MONDO_0004000	NCIT:C4048|DOID:6812|UMLS:C1332995	
MONDO:0006665	biolink:Disease	chronic atrophic gastritis	Atrophic gastritis that is persistent and long-standing.	SCTID:84568007|ICD9:535.1|EFO:1000826|ICD9:535.11|ICD10CM:K29.4|DOID:8929|ICD9:535.10|MedDRA:10003685|NCIT:C7405|MESH:D005757	mondo.json	gastric atrophy|Gastritides, atrophic|atrophic gastritis|atrophic Gastritides	http://purl.obolibrary.org/obo/MONDO_0006665	NCIT:C7405|http://identifiers.org/snomedct/84568007|http://identifiers.org/mesh/D005757|http://purl.bioontology.org/ontology/ICD10CM/K29.4|DOID:8929	
MONDO:0006662	biolink:Disease	aseptic meningitis	Inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen.	UMLS:C0025290|SCTID:301770000|MedDRA:10003458|EFO:1000823|DOID:12157|NCIT:C118299|MESH:D008582	mondo.json	aseptic meningitis|acute aseptic meningitis	http://purl.obolibrary.org/obo/MONDO_0006662	DOID:12157|http://identifiers.org/snomedct/301770000|NCIT:C118299|UMLS:C0025290|http://identifiers.org/mesh/D008582	
MONDO:0004003	biolink:Disease	obsolete pancreatic solid pseudopapillary carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004003		
MONDO:0006663	biolink:Disease	perinatal asphyxia	A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process.	Orphanet:137577|UMLS:C0004045|EFO:1000824|ICD9:768.9|DOID:11088|NCIT:C116313|SCTID:28314004|GARD:0005857|MESH:D001238	mondo.json	fetal asphyxia|perinatal asphyxia|postnatal asphyxia|birth asphyxia|asphyxia neonatorum|neonatal hypoxic and ischemic brain injury|hypoxic-ischemic encephalopathy|asphyxia - birth|HIE|intrapartum asphyxia|asphyxia, in liveborn infant|birth depression|perinatal depression|hypoxic and ischemic brain injury in the newborn|hypoxia neonatorum|perinatal hypoxia	http://purl.obolibrary.org/obo/MONDO_0006663	http://identifiers.org/snomedct/28314004|DOID:11088|UMLS:C0004045|Orphanet:137577|http://identifiers.org/mesh/D001238|NCIT:C116313	gard_rare
MONDO:0004002	biolink:Disease	obsolete pancreatoblastoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004002		
MONDO:0006660	biolink:Disease	arthus reaction	A localized vasculitis resulting from deposition of antibody-antigen complexes.	MedDRA:10003420|EFO:1000821|MESH:D001183|ICD9:708.8|ICD9:995.21|UMLS:C0003907|SCTID:402413008|DOID:1556|NCIT:C34400	mondo.json	arthus reaction (function)|arthus type urticaria|arthus phenomenon|arthus reaction	http://purl.obolibrary.org/obo/MONDO_0006660	DOID:1556|http://identifiers.org/snomedct/402413008|http://identifiers.org/mesh/D001183|UMLS:C0003907|NCIT:C34400	
MONDO:0006661	biolink:Disease	obsolete ascorbic acid deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006661		
MONDO:0043606	biolink:Disease	obsolete pathologic fracture	OBSOLETE. A traumatic break in an area of bone that has been weakened by another disease process.	SCTID:268029009|NCIT:C3047|MESH:D005598	mondo.json	spontaneous fracture|pathologic fractures|fracture, pathological|fractures, pathological|pathological fractures|pathologic fracture|spontaneous fractures|fracture, pathologic|fractures, pathologic|pathological fracture|fracture, spontaneous	http://purl.obolibrary.org/obo/MONDO_0043606	http://identifiers.org/mesh/D005598|NCIT:C3047|http://identifiers.org/snomedct/268029009	
MONDO:0018639	biolink:Disease	caudal regression-sirenomelia spectrum	Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported.	Orphanet:444941	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018639	Orphanet:444941	disease_grouping|ordo_group_of_disorders
HP:0007957	biolink:PhenotypicFeature	Corneal opacity	A reduction of corneal clarity.	UMLS:C0521719|MSH:D003318|SNOMEDCT_US:413921009|SNOMEDCT_US:95735008|UMLS:C0010038|SNOMEDCT_US:64634000	mondo.json	Corneal clouding|Scarring or clouding of the cornea of the eye|Corneal opacities|Reduction of corneal clarity	http://purl.obolibrary.org/obo/HP_0007957		hposlim_core
MONDO:0018638	biolink:Disease	pseudohypoaldosteronism	An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate.	DOID:4479|MESH:D011546|NCIT:C85034|Orphanet:444916|UMLS:C0033805|ICD9:255.8|SCTID:77098009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018638	DOID:4479|http://identifiers.org/snomedct/77098009|http://identifiers.org/mesh/D011546|NCIT:C85034|UMLS:C0033805|Orphanet:444916	disease_grouping|ordo_group_of_disorders
MONDO:0018635	biolink:Disease	idiopathic phalangeal acro-osteolysis		Orphanet:444316	mondo.json	idiopathic phalangeal acroosteolysis	http://purl.obolibrary.org/obo/MONDO_0018635	Orphanet:444316	ordo_disease
MONDO:0018634	biolink:Disease	hereditary amyloidosis	Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants.	MESH:D028226|Orphanet:444116|GARD:0006611|NCIT:C84555|UMLS:C0206246|SCTID:367601000119103	mondo.json	amyloidosis, Familial|amyloidosis hereditary|hereditary amyloidosis (disease)|familial amyloidosis	http://purl.obolibrary.org/obo/MONDO_0018634	http://identifiers.org/snomedct/367601000119103|Orphanet:444116|NCIT:C84555|http://identifiers.org/mesh/D028226	ordo_group_of_disorders|disease_grouping|gard_rare
MONDO:0018637	biolink:Disease	familial chylomicronemia syndrome		UMLS:CN231410|DOID:0111417|Orphanet:444490	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018637	DOID:0111417|Orphanet:444490|UMLS:CN231410	ordo_disease
MONDO:0018636	biolink:Disease	autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome		ICD10CM:D61.0|Orphanet:444463|UMLS:CN237691	mondo.json	TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease|tripeptidyl-peptidase II deficiency|Evans syndrome associated with primary immunodeficiency|TPPII deficiency|triangle disease	http://purl.obolibrary.org/obo/MONDO_0018636	UMLS:CN237691|Orphanet:444463	ordo_disease
MONDO:0018631	biolink:Disease	Marie Unna hereditary hypotrichosis	Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.	Orphanet:444|MESH:C535912|GARD:0003390|UMLS:C2931059	mondo.json	Marie Unna congenital hypotrichosis|hypotrichosis, Marie Unna type|MUHH	http://purl.obolibrary.org/obo/MONDO_0018631	Orphanet:444|http://identifiers.org/mesh/C535912|UMLS:C2931059	ordo_disease
MONDO:0018630	biolink:Disease	hereditary nonpolyposis colon cancer	Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age.	UMLS:C0009405|NCIT:C120083|UMLS:CN237674|Orphanet:443909|OMIMPS:120435|SCTID:315058005	mondo.json	HNPCC|hereditary nonpolyposis colorectal cancer|colorectal cancer, hereditary nonpolyposis|familial nonpolyposis colon cancer|familial nonpolyposis colorectal cancer|Hereditary nonpolyposis colorectal cancer (HNPCC)|hereditary nonpolyposis colon cancer	http://purl.obolibrary.org/obo/MONDO_0018630	UMLS:CN237674|https://omim.org/phenotypicSeries/PS120435|http://identifiers.org/snomedct/315058005|Orphanet:443909|NCIT:C120083	ordo_group_of_disorders|clingen|disease_grouping
MONDO:0018633	biolink:Disease	20q11.2 microdeletion syndrome	20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.	UMLS:CN237681|Orphanet:444051	mondo.json	Del(20)(q11.2)|monosomy 20q11	http://purl.obolibrary.org/obo/MONDO_0018633	UMLS:CN237681|Orphanet:444051	ordo_malformation_syndrome
MONDO:0018632	biolink:Disease	11q22.2q22.3 microdeletion syndrome		UMLS:CN237678|Orphanet:444002	mondo.json	Del(11)(q22.2q22.3)|monosomy 11q22.2-q22.3|monosomy 11q22.2q22.3|11q22.2-q22.3 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0018632	UMLS:CN237678|Orphanet:444002	ordo_malformation_syndrome
MONDO:0006639	biolink:Disease	adrenal cortex carcinoma	A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival.	SCTID:255035007|GARD:0000558|DOID:3948|EFO:1000796|Orphanet:1501|NCIT:C9325|MedDRA:10001388|DOID:660|UMLS:C0206686|NCIT:C2858|ONCOTREE:ACC|ICDO:8370/3|HP:0006744|DOID:3959	mondo.json	adrenal cortical carcinoma (morphologic abnormality)|cancer of the adrenal cortex|adrenocortical cancer|adrenal cortex cancer|malignant tumour of adrenal cortex|carcinoma of adrenal cortex|adrenal cortex carcinoma|adrenal cortical tumors|malignant adrenocortical tumor|adrenocortical carcinoma|adenocarcinoma, adrenocortical, malignant|adrenal cortical carcinoma|adrenal cortical adenocarcinoma|ACC|malignant neoplasm of adrenal cortex|cortical cell carcinoma|carcinoma, adrenocortical, malignant|adrenocortical carcinoma (disease)|carcinoma of the adrenal cortex|adrenal cortex adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006639	http://identifiers.org/snomedct/255035007|NCIT:C9325|Orphanet:1501|DOID:660|UMLS:C0206686|DOID:3959|DOID:3948	ordo_disease
MONDO:0006637	biolink:Disease	acute kidney tubular necrosis	Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics.	DOID:12556|EFO:1000794|ICD9:584.5|HP:0008682|MedDRA:10023441|SCTID:23697004|SCTID:35455006|NCIT:C34749|MESH:D007683|UMLS:C0022672	mondo.json	acute renal failure with lesion of tubular necrosis|acute renal failure with tubular necrosis|ATN - acute tubular necrosis|acute tubule necrosis|acute tubular necrosis	http://purl.obolibrary.org/obo/MONDO_0006637	http://identifiers.org/snomedct/35455006|NCIT:C34749|http://identifiers.org/mesh/D007683|DOID:12556|UMLS:C0022672	
MONDO:0006638	biolink:Disease	acute retinal necrosis syndrome	Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome.	MESH:D015882|EFO:1000795|UMLS:C0035319|SCTID:231986000|DOID:3611	mondo.json	acute retinal necrosis	http://purl.obolibrary.org/obo/MONDO_0006638	http://identifiers.org/mesh/D015882|http://identifiers.org/snomedct/231986000|DOID:3611|UMLS:C0035319	
MONDO:0006635	biolink:Disease	Acinetobacter infectious disease	Infections with bacteria of the genus acinetobacter.	MESH:D000151|EFO:1000792|DOID:3091|UMLS:C0001139	mondo.json	Mimae infections|Acinetobacter infection|Mimae infection|Acinetobacter disease or disorder|Acinetobacter caused disease or disorder|infections, Acinetobacter|infections, Mimae|infection, Acinetobacter|infection, Mimae	http://purl.obolibrary.org/obo/MONDO_0006635	UMLS:C0001139|http://identifiers.org/mesh/D000151|DOID:3091	
NCBITaxon:1593277	biolink:OrganismalEntity	Onygenales incertae sedis		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1593277		
MONDO:0006636	biolink:Disease	Actinobacillus infectious disease	Infections with bacteria of the genus actinobacillus.	EFO:1000793|MESH:D000189	mondo.json	Actinobacillus disease or disorder|infections, Actinobacillus|Actinobacillus infection|Actinobacillus caused disease or disorder|infection, Actinobacillus	http://purl.obolibrary.org/obo/MONDO_0006636	http://identifiers.org/mesh/D000189	
MONDO:0006633	biolink:Disease	acalculous cholecystitis	Inflammation of the gallbladder in the absence of gallstones.	UMLS:C0267841|MESH:D042101|NCIT:C35578|DOID:2828|EFO:1000790|SCTID:19968009|MedDRA:10000347|UMLS:C0267842	mondo.json	acute acalculous cholecystitis|acute cholecystitis without calculus|cholecystitis without calculus	http://purl.obolibrary.org/obo/MONDO_0006633	http://identifiers.org/mesh/D042101|NCIT:C35578|UMLS:C0267841|UMLS:C0267842|http://identifiers.org/snomedct/19968009|DOID:2828	
MONDO:0006634	biolink:Disease	pituitary gland acidophil adenoma	An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic dyes.	EFO:1000791|UMLS:C0001433|NCIT:C6780|MESH:D000239|DOID:5392|ICDO:8280/0	mondo.json	pituitary gland acidophil adenoma|acidophil adenoma|eosinophil adenoma	http://purl.obolibrary.org/obo/MONDO_0006634	DOID:5392|UMLS:C0001433|http://identifiers.org/mesh/D000239|NCIT:C6780	
MONDO:0006631	biolink:Disease	osteoarthritis, toe	Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to: - become stiff over time, which can make it difficult and painful to walk – this is called hallux rigidus - become bent, which can lead to painful bunions (bony lumps at the base of your big toe) – this is called hallux valgus. Osteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot. Ankle osteoarthritis is least common and may cause your heel to move to an unusual angle.	EFO:1000788	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006631		
MONDO:0006632	biolink:Disease	osteoarthritis, hand	Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and it’s no longer possible to have children).	EFO:1000789	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006632		
MONDO:0006630	biolink:Disease	osteoarthritis, spine	A degenerative joint disease involving the spine. It is characterized by progressive deterioration of the spinal articular cartilage (cartilage, articular), usually with hardening of the subchondral bone and outgrowth of bone spurs (osteophyte).	SCTID:8847002|MESH:D055013|EFO:1000787	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006630	http://identifiers.org/snomedct/8847002|http://identifiers.org/mesh/D055013	
MONDO:0018628	biolink:Disease	HIV-associated cancer		Orphanet:443291|UMLS:CN237671	mondo.json	HIV-related cancer	http://purl.obolibrary.org/obo/MONDO_0018628	UMLS:CN237671|Orphanet:443291	ordo_clinical_situation
OBO:ECTO_9001755	biolink:NamedThing	exposure to antimicrobial drug	An exposure to antimicrobial drug.		mondo.json	exposure to antimicrobial drug	http://purl.obolibrary.org/obo/ECTO_9001755		
MONDO:0018627	biolink:Disease	obsolete ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor		Orphanet:443287|UMLS:CN237670	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018627	UMLS:CN237670|Orphanet:443287	ordo_group_of_disorders
OBO:ECTO_9001757	biolink:NamedThing	exposure to antibacterial drug	An exposure to antibacterial drug.		mondo.json	exposure to antibacterial drug	http://purl.obolibrary.org/obo/ECTO_9001757		
MONDO:0018629	biolink:Disease	focal stiff limb syndrome		Orphanet:443804|UMLS:CN237672	mondo.json	focal stiff-person syndrome|Stiff leg syndrome	http://purl.obolibrary.org/obo/MONDO_0018629	Orphanet:443804|UMLS:CN237672	ordo_clinical_subtype
MONDO:0018624	biolink:Disease	spontaneous intracranial hypotension		Orphanet:443180|UMLS:CN237665	mondo.json	spontaneous cerebrospinal fluid leak	http://purl.obolibrary.org/obo/MONDO_0018624	UMLS:CN237665|Orphanet:443180	ordo_disease
MONDO:0018623	biolink:Disease	postpartum psychosis	Postpartum psychosis is a rare psychiatric emergency in which symptoms of high mood and racing thoughts (mania), depression, severe confusion, loss of inhibition, paranoia, hallucinations and delusions set in, beginning suddenly in the first two weeks after childbirth. The symptoms vary and can change quickly.	SCTID:18260003|ICD10CM:F53|Orphanet:443173|ICD9:648.44	mondo.json	puerperal psychosis	http://purl.obolibrary.org/obo/MONDO_0018623	http://purl.bioontology.org/ontology/ICD10CM/F53|http://identifiers.org/snomedct/18260003|Orphanet:443173	ordo_disease
MONDO:0018626	biolink:Disease	paratyphoid fever	A condition resembling typhoid fever that is caused by infection by Salmonella enterica serovar Parathyphi.	MESH:D010284|ICD9:002.3|UMLS:C0343377|UMLS:C0343376|ICD9:002.9|UMLS:C0343375|Orphanet:443227|ICD9:002.2|ICD9:002.1|DOID:3055|UMLS:C0030528|EFO:0007420|SCTID:51254007|NCIT:C34897	mondo.json	paratyphoid fever C|paratyphoid fever B|paratyphoid fever A|paratyphoid C fever|paratyphoid B fever|paratyphoid A fever|paratyphoid c|paratyphoid b|paratyphoid a|paratyphoid	http://purl.obolibrary.org/obo/MONDO_0018626	UMLS:C0030528|UMLS:C0343375|UMLS:C0343376|UMLS:C0343377|DOID:3055|NCIT:C34897|http://identifiers.org/mesh/D010284|http://identifiers.org/snomedct/51254007|Orphanet:443227	ordo_disease
MONDO:0018625	biolink:Disease	classic stiff person syndrome		Orphanet:443192|UMLS:CN237666	mondo.json	classic SPS	http://purl.obolibrary.org/obo/MONDO_0018625	UMLS:CN237666|Orphanet:443192	ordo_clinical_subtype
NCBITaxon:33634	biolink:OrganismalEntity	Stramenopiles		GC_ID:1	mondo.json	Chromophyta|Heterokonta|heterokonts|Straminipila	http://purl.obolibrary.org/obo/NCBITaxon_33634		
MONDO:0018620	biolink:Disease	hypothalamic adipsic hypernatraemia syndrome		Orphanet:443101|UMLS:CN237660	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018620	UMLS:CN237660|Orphanet:443101	ordo_disease
HGNC:14376	biolink:NamedThing	ACP4			mondo.json		http://identifiers.org/hgnc/14376		
MONDO:0018622	biolink:Disease	obsolete nut midline carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018622		
HGNC:14377	biolink:NamedThing	NHP2			mondo.json		http://identifiers.org/hgnc/14377		
MONDO:0018621	biolink:Disease	lymphoplasmacytic lymphoma without IgM production		Orphanet:443159	mondo.json	lymphoplasmacytic lymphoma without Immunoglobulin M production	http://purl.obolibrary.org/obo/MONDO_0018621	Orphanet:443159	ordo_disease
HGNC:14378	biolink:NamedThing	NOP10			mondo.json		http://identifiers.org/hgnc/14378		
NCBITaxon:33630	biolink:OrganismalEntity	Alveolata		GC_ID:1	mondo.json	alveolates	http://purl.obolibrary.org/obo/NCBITaxon_33630		
OBO:ECTO_9001751	biolink:NamedThing	exposure to antiprotozoal drug	An exposure to antiprotozoal drug.		mondo.json	exposure to antiprotozoal drug	http://purl.obolibrary.org/obo/ECTO_9001751		
HGNC:14372	biolink:NamedThing	SCYL1			mondo.json		http://identifiers.org/hgnc/14372		
HGNC:14373	biolink:NamedThing	GLMN			mondo.json		http://identifiers.org/hgnc/14373		
HGNC:14374	biolink:NamedThing	NLRP1			mondo.json		http://identifiers.org/hgnc/14374		
UBERON:0015482	biolink:AnatomicalEntity	right hepatic artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015482		
MONDO:0006648	biolink:Disease	anterior compartment syndrome	Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion.	EFO:1000808|MESH:D000868|DOID:3933|UMLS:C0003152|SCTID:12694001	mondo.json	anterior compartment syndrome	http://purl.obolibrary.org/obo/MONDO_0006648	http://identifiers.org/snomedct/12694001|http://identifiers.org/mesh/D000868|DOID:3933|UMLS:C0003152	
UBERON:0015485	biolink:AnatomicalEntity	choledocho-duodenal junction			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015485		
MONDO:0006649	biolink:Disease	anterior ischemic optic neuropathy	Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disc is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful.	SCTID:404659001|UMLS:C0155305|GARD:0009790|EFO:1000809|MESH:D018917|ICD9:377.41|DOID:12010|MedDRA:10068250	mondo.json	optic disc infarction leading to vision loss|aion|ischemic optic neuropathy	http://purl.obolibrary.org/obo/MONDO_0006649	http://identifiers.org/snomedct/404659001|DOID:12010|UMLS:C0155305|http://identifiers.org/mesh/D018917	gard_rare
MONDO:0006646	biolink:Disease	angioleiomyoma	A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels.	UMLS:C0206653|ICDO:8894/0|NCIT:C3747|DOID:4265|EFO:1000806|EFO:1000084|MESH:D018229	mondo.json	angiomyoma (morphologic abnormality)|angiomyoma|vascular leiomyoma|angioleiomyoma	http://purl.obolibrary.org/obo/MONDO_0006646	DOID:4265|UMLS:C0206653|http://identifiers.org/mesh/D018229|NCIT:C3747	
MONDO:0006647	biolink:Disease	anterior cerebral artery infarction	Necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body.	MESH:D020243|UMLS:C0751843|EFO:1000807|DOID:3528	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006647	UMLS:C0751843|DOID:3528|http://identifiers.org/mesh/D020243	
MONDO:0006644	biolink:Disease	alcoholic liver cirrhosis	A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages.	SCTID:419728003|MedDRA:10001618|ICD10CM:K70.3|UMLS:C0023891|CSP:1754-7677|ICD9:571.2|EFO:1000802|DOID:14018|NCIT:C34782|UMLS:C1622502|MESH:D008104	mondo.json	alcoholic cirrhosis of liver|portal cirrhosis|alcoholic cirrhosis|Laennec's cirrhosis|Laennec's cirrhosis, alcoholic	http://purl.obolibrary.org/obo/MONDO_0006644	DOID:14018|http://identifiers.org/mesh/D008104|NCIT:C34782|http://identifiers.org/snomedct/419728003|UMLS:C0023891|http://purl.bioontology.org/ontology/ICD10CM/K70.3|UMLS:C1622502	
UBERON:0015481	biolink:AnatomicalEntity	left hepatic artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015481		
MONDO:0006645	biolink:Disease	alcoholic polyneuropathy	Any disease affecting more than one nerve.	NCIT:C26926|DOID:14183|ICD10CM:G62.1|UMLS:C0085677|EFO:1000803|MESH:D020269|SCTID:7916009|ICD9:357.5	mondo.json	alcoholic neuropathy|alcohol-related polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0006645	UMLS:C0085677|DOID:14183|http://identifiers.org/mesh/D020269|NCIT:C26926|http://identifiers.org/snomedct/7916009|http://purl.bioontology.org/ontology/ICD10CM/G62.1	
MONDO:0006642	biolink:Disease	alcohol withdrawal delirium	An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include confusion; delusions; vivid hallucinations; tremor; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)	SCTID:8635005|MESH:D000430|ICD9:291.0|MedDRA:10001610|EFO:1000800	mondo.json	delirium Tremens|alcohol withdrawal-induced delirium Tremens|autonomic hyperactivity, alcohol withdrawal associated|hallucinosis, alcohol withdrawal|delirium, alcohol withdrawal|delirium Tremens, alcohol withdrawal induced|alcohol withdrawal hallucinosis|alcohol withdrawal associated autonomic hyperactivity|alcohol withdrawal induced delirium Tremens	http://purl.obolibrary.org/obo/MONDO_0006642	http://identifiers.org/mesh/D000430|http://identifiers.org/snomedct/8635005	
MONDO:0006643	biolink:Disease	alcoholic cardiomyopathy	A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years.	SCTID:83521008|ICD10CM:I42.6|MedDRA:10001616|MESH:D002310|DOID:12935|UMLS:C0007192|EFO:1000801|ICD9:425.5|NCIT:C53653	mondo.json	alcohol-induced heart muscle disease|alcoholic cardiomyopathy|dilated cardiomyopathy secondary to alcohol	http://purl.obolibrary.org/obo/MONDO_0006643	UMLS:C0007192|http://purl.bioontology.org/ontology/ICD10CM/I42.6|DOID:12935|http://identifiers.org/mesh/D002310|NCIT:C53653|http://identifiers.org/snomedct/83521008	
MONDO:0006640	biolink:Disease	adrenal gland hyperfunction	Excess production of adrenal cortex hormones.	DOID:3947|MESH:D000308|HP:0003118|UMLS:CN205287|SCTID:275437005|UMLS:C0001622|EFO:1000797|GARD:0008252|ICD9:255.3	mondo.json	hyperfunction, adrenocortical|hypercorticism|disorder of corticoadrenal overactivity|hyperfunction, adrenal gland|adrenal gland hyperfunction|hypercortisolism|hyperadrenocorticism|hypercortisolemia|adrenocortical hyperfunction|hyperadrenalism	http://purl.obolibrary.org/obo/MONDO_0006640	http://identifiers.org/mesh/D000308|DOID:3947|UMLS:CN205287|http://identifiers.org/snomedct/275437005|UMLS:C0001622	
MONDO:0006641	biolink:Disease	afferent loop syndrome	A complication of gastrojejunostomy (billroth II procedure), a reconstructive gastroenterostomy. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to hernia, intussusception, kinking, volvulus, etc. It is characterized by pain and vomiting of bile-stained fluid.	MESH:D000343|DOID:8438|MedDRA:10056245|ICD9:537.89|SCTID:20813000|EFO:1000799|UMLS:C0001727	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006641	UMLS:C0001727|http://identifiers.org/mesh/D000343|http://identifiers.org/snomedct/20813000|DOID:8438	
HGNC:26361	biolink:NamedThing	HEPACAM			mondo.json		http://identifiers.org/hgnc/26361		
MONDO:0018609	biolink:Disease	obsolete syndromic hereditary optic neuropathy	OBSOLETE. A hereditary optic neuropathy that is part of a larger syndrome.	UMLS:CN237645|Orphanet:441434	mondo.json	syndrome associated with hereditary optic neuropathy|syndromic hereditary optic neuropathy	http://purl.obolibrary.org/obo/MONDO_0018609	Orphanet:441434|UMLS:CN237645	ordo_group_of_disorders
MONDO:0018617	biolink:Disease	baroreflex failure	Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain. Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest. Symptoms of baroreflex failure may include headache, sweating, and a heart rate that does not respond to medications. The onset of baroreflex failure may be very abrupt or more gradual. In many cases, the cause of baroreflex failure is not known. However, baroreflex failure can result from surgery or radiation treatment for cancers of the neck, injury to the nerves involved in sensing blood pressure, or a degenerative neurologic disease. Treatment usually involves medications to control blood pressure and heart rate along with stress reduction techniques.	Orphanet:443084|GARD:0010664|UMLS:CN237655	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018617	UMLS:CN237655|Orphanet:443084	gard_rare|ordo_clinical_syndrome
MONDO:0018616	biolink:Disease	central serous chorioretinopathy	Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from thechoroid (theblood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight linesand seeingobjectsas smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals.	UMLS:C0730328|NCIT:C115124|GARD:0000200|Orphanet:443079|ICD9:362.41|SCTID:312956001|MESH:D056833	mondo.json	CSC|central serous chorioretinopathy after bone marrow transplantation|central serous retinopathy|CSCR|central serous choroidopathy	http://purl.obolibrary.org/obo/MONDO_0018616	UMLS:C0730328|http://identifiers.org/mesh/D056833|http://identifiers.org/snomedct/312956001|NCIT:C115124|Orphanet:443079	ordo_disease|gard_rare
MONDO:0018619	biolink:Disease	obsolete hyperinsulinemic hypoglycaemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018619		
MONDO:0018618	biolink:Disease	obsolete 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect		Orphanet:443090	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018618	Orphanet:443090	ordo_group_of_disorders
MONDO:0018613	biolink:Disease	AH amyloidosis		Orphanet:442582	mondo.json	heavy chain amyloidosis	http://purl.obolibrary.org/obo/MONDO_0018613	Orphanet:442582	ordo_disease
MONDO:0018612	biolink:Disease	congenital hypothyroidism	A thyroid hormone deficiency present from birth.	DOID:0050328|MESH:D003409|MedDRA:10010510|ICD9:269.3|ICD9:759.89|SCTID:190268003|NCIT:C26734|GARD:0001487|ICD9:243|UMLS:C0010308|Orphanet:442|SCTID:217710005	mondo.json	infantile hypothyroidism|fetal iodine deficiency syndrome|congenital hypothyroidism not due to iodine deficiency|cretinism|congenital hypothyroidism|congenital goiter|congenital iodine deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0018612	Orphanet:442|DOID:0050328|http://identifiers.org/snomedct/190268003|UMLS:C0010308|http://identifiers.org/snomedct/217710005|NCIT:C26734|http://identifiers.org/mesh/D003409	disease_grouping|ordo_group_of_disorders
MONDO:0018615	biolink:Disease	hemicrania continua	Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine -like pain (exacerbations). These severe pain periods can last from 20 minutes to days. The frequency of exacerbations also varies greatly. The headache stays on the same side of the head and usually without pain free periods. HC is more common in women and most often starts in adulthood, but may begin anywhere from 5 to 67 years of age. Diagnosis of hemicrania continua (HC) is made by ruling out other possible causes of the pain and by clinical symptoms. During the periods of severe pain, at least one of the following symptoms must be present on same side of the body as the headache: watering or red eyes (conjunctival injection), congested or runny nose, or drooping eyelid. In addition, the headache pain must respond to treatment with indomethacin. The cause of HC is unknown. Other treatments for those who cannot tolerate long term indomethacin therapy are being studied.	SCTID:443095000|ICD10CM:G44.51|Orphanet:443070|UMLS:C2349425|GARD:0010795|ICD9:339.41|UMLS:CN237652	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018615	http://purl.bioontology.org/ontology/ICD10CM/G44.51|UMLS:CN237652|http://identifiers.org/snomedct/443095000|UMLS:C2349425|Orphanet:443070	ordo_disease|gard_rare
MONDO:0018614	biolink:Disease	undetermined early-onset epileptic encephalopathy	A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities.	Orphanet:442835	mondo.json	undetermined early-onset epileptic encephalopathy|undetermined EOEE	http://purl.obolibrary.org/obo/MONDO_0018614	Orphanet:442835	ordo_disease
HP:0032943	biolink:PhenotypicFeature	Abnormal urine pH	A deviation of urine pH from the normal range of 4.5 to 7.8.		mondo.json		http://purl.obolibrary.org/obo/HP_0032943		
MONDO:0018611	biolink:Disease	early-onset lamellar cataract		UMLS:CN237647|Orphanet:441452	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018611	Orphanet:441452|UMLS:CN237647	ordo_clinical_subtype
HGNC:14388	biolink:NamedThing	GP6			mondo.json		http://identifiers.org/hgnc/14388		
MONDO:0018610	biolink:Disease	early-onset posterior subcapsular cataract		Orphanet:441447|UMLS:CN237646	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018610	Orphanet:441447|UMLS:CN237646	ordo_clinical_subtype
MONDO:0018680	biolink:Disease	cutaneous pseudolymphoma	A pseudolymphoma of the skin.	UMLS:C0311220|SCTID:128862000|NCIT:C62776|Orphanet:451607	mondo.json	pseudolymphoma of Spiegler|lymphadenosis Benigna cutis|lymphocytoma cutis	http://purl.obolibrary.org/obo/MONDO_0018680	http://identifiers.org/snomedct/128862000|NCIT:C62776|Orphanet:451607|UMLS:C0311220	ordo_disease
MONDO:0004038	biolink:Disease	dental enamel hypoplasia	Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth.	UMLS:C0011351|NCIT:C34529|SCTID:26597004|DOID:693|EFO:1001304|MESH:D003744	mondo.json	enamel hypoplasia	http://purl.obolibrary.org/obo/MONDO_0004038	http://identifiers.org/mesh/D003744|http://identifiers.org/snomedct/26597004|NCIT:C34529|DOID:693|UMLS:C0011351	
MONDO:0004037	biolink:Disease	retinal edema		SCTID:6141006|DOID:6929|ICD9:362.83|MESH:D010211	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004037	http://identifiers.org/snomedct/6141006|DOID:6929	
MONDO:0006699	biolink:Disease	choledocholithiasis	Presence or formation of gallstones in the common bile duct.	DOID:11755|EFO:1000865|MESH:D042883|MedDRA:10049891|UMLS:C0701818	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006699	DOID:11755|UMLS:C0701818|http://identifiers.org/mesh/D042883	
MONDO:0004039	biolink:Disease	papillary extrahepatic bile duct adenocarcinoma		DOID:6931	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004039	DOID:6931	
MONDO:0004034	biolink:Disease	eye lymphoma	A lymphoma that involves the eye.	UMLS:C1333519|DOID:6903|NCIT:C35690	mondo.json	primary eye lymphoma|eye lymphoma|eyeball of camera-type eye lymphoma|lymphoma of eyeball of camera-type eye	http://purl.obolibrary.org/obo/MONDO_0004034	UMLS:C1333519|NCIT:C35690|DOID:6903	
MONDO:0006697	biolink:Disease	obsolete Chlamydophila infectious disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006697		
MONDO:0006698	biolink:Disease	cholecystolithiasis	Single or multiple, ovoid or irregular, solid particles that are formed from bile, cholesterol, and calcium in the gallbladder cavity.	EFO:1000864|UMLS:C0947622|MedDRA:10049890|MESH:D041761|SCTID:235919008|DOID:11151	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006698	DOID:11151|UMLS:C0947622|http://identifiers.org/mesh/D041761	
MONDO:0004033	biolink:Disease	obsolete familial ovarian carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004033		
MONDO:0004036	biolink:Disease	obsolete MONDO:0004036			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004036		
MONDO:0006695	biolink:Disease	obsolete cervical rib syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006695		
MONDO:0006696	biolink:Disease	cervix erosion	Loss or destruction of the epithelial lining of the uterine cervix.	DOID:3456|EFO:1000862|MESH:D002579|SCTID:61253004|MedDRA:10015128|UMLS:C0007869	mondo.json	erosion of cervix	http://purl.obolibrary.org/obo/MONDO_0006696	http://identifiers.org/snomedct/61253004|http://identifiers.org/mesh/D002579|DOID:3456|UMLS:C0007869	
MONDO:0004035	biolink:Disease	glomangiomatosis	A benign multifocal proliferation of glomus cells forming clusters around dilated vascular spaces.	NCIT:C27496|DOID:6906|UMLS:C1333824	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004035	NCIT:C27496|UMLS:C1333824|DOID:6906	
MONDO:0004030	biolink:Disease	ureter transitional cell carcinoma	A carcinoma that arises from the transitional epithelium of the ureter. It is associated with tobacco use and usually presents with gross or microscopic hematuria.	SCTID:300988009|EFO:1001973|UMLS:C0577692|DOID:6888|NCIT:C4830	mondo.json	ureter transitional cell carcinoma|ureteral urothelial cell carcinoma|ureter urothelial carcinoma|urothelial cell carcinoma of ureter|urothelial cell carcinoma of the ureter|ureteral transitional cell carcinoma|transitional cell carcinoma of ureter|ureter urothelial cancer|transitional cell carcinoma of the ureter	http://purl.obolibrary.org/obo/MONDO_0004030	NCIT:C4830|DOID:6888|http://identifiers.org/snomedct/300988009|UMLS:C0577692	
MONDO:0006693	biolink:Disease	cerebral arterial disease	Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery.	MESH:D002539|DOID:3527|EFO:1000859|UMLS:C0007774	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006693	http://identifiers.org/mesh/D002539|DOID:3527|UMLS:C0007774	
MONDO:0006694	biolink:Disease	cerebral atherosclerosis	Atherosclerosis of the cerebral vasculature.	UMLS:C0007775|ICD9:437.0|NCIT:C34459|DOID:12720|EFO:1000860|ICD10CM:I67.2|SCTID:55382008|MedDRA:1008095|MESH:D002537	mondo.json	cerebral atherosclerosis	http://purl.obolibrary.org/obo/MONDO_0006694	NCIT:C34459|http://identifiers.org/snomedct/55382008|UMLS:C0007775|http://purl.bioontology.org/ontology/ICD10CM/I67.2|DOID:12720	
HGNC:28991	biolink:NamedThing	RUBCN			mondo.json		http://identifiers.org/hgnc/28991		
MONDO:0004032	biolink:Disease	ovarian seromucinous carcinoma	A malignant mixed epithelial neoplasm that arises from the ovary and is composed predominantly of serous and endocervical-type mucinous epithelium.	EFO:1000358|NCIT:C40090|DOID:6899|ONCOTREE:OSMCA|UMLS:C1518232	mondo.json	mixed epithelial carcinoma of the ovary|mixed epithelial carcinoma of ovary|malignant ovarian mixed epithelial neoplasm|malignant ovarian mixed epithelial tumor|ovarian mixed epithelial carcinoma|ovarian Seromucinous carcinoma	http://purl.obolibrary.org/obo/MONDO_0004032	NCIT:C40090|UMLS:C1518232	
MONDO:0006691	biolink:Disease	obsolete causalgia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006691		
MONDO:0006692	biolink:Disease	central pontine myelinolysis	A central nervous system disorder caused by demyelination within the central basis pontis of the brain. It is characterized by spastic quadriplegia, pseudobulbar palsy and encephalopathy. It is observed in patients with severe hyponatremia, particularly when the hyponatremia is corrected too rapidly.	MESH:D017590|SCTID:6807001|ICD9:341.8|UMLS:C0206083|ICD10CM:G37.2|GARD:0008749|DOID:636|NCIT:C84623|EFO:1000857|MedDRA:10007968	mondo.json	osmotic demyelination syndrome	http://purl.obolibrary.org/obo/MONDO_0006692	NCIT:C84623|http://identifiers.org/snomedct/6807001|UMLS:C0206083|DOID:636|http://purl.bioontology.org/ontology/ICD10CM/G37.2|http://identifiers.org/mesh/D017590	
MONDO:0004031	biolink:Disease	ovary mixed epithelial carcinoma		DOID:6898|ONCOTREE:MXOV	mondo.json	mixed epithelial carcinoma of ovary|mixed ovarian carcinoma	http://purl.obolibrary.org/obo/MONDO_0004031	DOID:6898	
HGNC:28993	biolink:NamedThing	PIEZO1			mondo.json		http://identifiers.org/hgnc/28993		
MONDO:0006690	biolink:Disease	carotid artery thrombosis	Blood clot formation in any part of the carotid arteries. This may produce carotid stenosis or occlusion of the vessel, leading to transient ischemic attack; cerebral infarction; or amaurosis fugax.	SCTID:86003009|EFO:1000853|UMLS:C0007274|MESH:D002341|ICD9:433.10|DOID:3410|MedDRA:10007688	mondo.json	carotid artery thrombosis	http://purl.obolibrary.org/obo/MONDO_0006690	http://identifiers.org/mesh/D002341|UMLS:C0007274|DOID:3410|http://identifiers.org/snomedct/86003009	
MONDO:0016027	biolink:Disease	benign neonatal seizures	A rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.	NCIT:C117307|MedDRA:10067866|OMIMPS:121200|DOID:14264|Orphanet:1949|SCTID:38281008	mondo.json	benign familial convulsion|benign neonatal convulsions|benign familial neonatal seizures|seizures, benign familial neonatal|benign familal neonatal seizures|BFNS|benign familial convulsions|benign familial neonatal convulsions	http://purl.obolibrary.org/obo/MONDO_0016027	http://identifiers.org/snomedct/38281008|NCIT:C117307|DOID:14264|https://omim.org/phenotypicSeries/PS121200|Orphanet:1949	ordo_disease
HGNC:14357	biolink:NamedThing	MMP21			mondo.json		http://identifiers.org/hgnc/14357		
MONDO:0016028	biolink:Disease	erythromelalgia	A rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders.	ICD10CM:I73.81|SCTID:37151006|MedDRA:10015284|NCIT:C34593|Orphanet:1956|DOID:9240|MESH:D004916|ICD9:443.82|UMLS:C0014804	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016028	DOID:9240|http://purl.bioontology.org/ontology/ICD10CM/I73.81|http://identifiers.org/mesh/D004916|UMLS:C0014804|NCIT:C34593|Orphanet:1956|http://identifiers.org/snomedct/37151006	ordo_disease
MONDO:0018689	biolink:Disease	plasma cell leukemia	An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. It is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count.	ICDO:9733/3|EFO:0006475|SCTID:95210003|ICD9:203.10|Orphanet:454714|GARD:0009373|MESH:D007952|ICD9:203.1|NCIT:C3180|DOID:9513|UMLS:C0023484	mondo.json	leukemia plasmacytic|leukemia, plasma cell|plasma cell leukemia|PCL|plasmacytic leukemia	http://purl.obolibrary.org/obo/MONDO_0018689	DOID:9513|NCIT:C3180|Orphanet:454714|http://identifiers.org/snomedct/95210003|UMLS:C0023484|http://identifiers.org/mesh/D007952	ordo_disease|gard_rare
MONDO:0016029	biolink:Disease	esthesioneuroblastoma	A rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases.	GARD:0002197|Orphanet:1957|SCTID:422886007	mondo.json	olfactory neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0016029	http://identifiers.org/snomedct/422886007|Orphanet:1957	ordo_disease
MONDO:0018686	biolink:Disease	acquired Creutzfeldt-Jakob disease	An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual.	MESH:C538481|Orphanet:454700|OMIM:123400|UMLS:CN237752	mondo.json	acquired CJD|sporadic CJD|acquired Creutzfeldt Jacob disease	http://purl.obolibrary.org/obo/MONDO_0018686	http://identifiers.org/mesh/C538481|Orphanet:454700|UMLS:CN237752	ordo_disease
MONDO:0016023	biolink:Disease	obsolete ocular coloboma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0016023		
MONDO:0018685	biolink:Disease	incessant infant ventricular tachycardia	Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure.	SCTID:233908008|Orphanet:45453|UMLS:C0340487|ICD10CM:I47.2	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018685	Orphanet:45453|http://identifiers.org/snomedct/233908008|UMLS:C0340487	ordo_disease
MONDO:0016024	biolink:Disease	shoulder and thorax deformity-congenital heart disease syndrome		Orphanet:1940	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016024	Orphanet:1940	ordo_malformation_syndrome
MONDO:0016025	biolink:Disease	myoclonic-astastic epilepsy	Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.	ICD9:345.10|Orphanet:1942|SCTID:230421008|GARD:0002169	mondo.json	epilepsy with myoclonic-atonic seizures|epilepsy with myoclonic-astatic seizures|mae|myoclonic astatic epilepsy|myoclonic-astatic epilepsy in early childhood|Doose syndrome|myoclonic atonic epilepsy|epilepsy with myoclono-astatic crisis|EMAS	http://purl.obolibrary.org/obo/MONDO_0016025	http://identifiers.org/snomedct/230421008|Orphanet:1942	gard_rare|ordo_disease
MONDO:0018688	biolink:Disease	anti-p200 pemphigoid		EFO:0008597|Orphanet:454710|UMLS:CN237754	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018688	Orphanet:454710|UMLS:CN237754	ordo_disease
MONDO:0018687	biolink:Disease	progressive muscular atrophy	A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation.	ICD9:335.21|Orphanet:454706|SCTID:88923002|UMLS:C0917981|DOID:318|NCIT:C85027|EFO:0008864|MESH:D009134	mondo.json	pure progressive muscular atrophy|PMA|progressive spinal muscular atrophy	http://purl.obolibrary.org/obo/MONDO_0018687	http://identifiers.org/snomedct/88923002|Orphanet:454706|DOID:318|UMLS:C0917981|NCIT:C85027	ordo_disease
MONDO:0016026	biolink:Disease	infant epilepsy with migrant focal crisis	An infantile epilepsy syndrome characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The aetiology is unknown.	UMLS:C4510564|Orphanet:1943|SCTID:724274009|GARD:0002995	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016026	UMLS:C4510564|http://identifiers.org/snomedct/724274009|Orphanet:1943	gard_rare|ordo_disease
MONDO:0018682	biolink:Disease	congenital insensitivity to pain with severe intellectual disability		Orphanet:453510	mondo.json	congenital absence of pain with severe intellectual disability|congenital insensitivity to pain with preserved temperature sensation|congenital analgesia with severe intellectual disability|congenital insensitivity to pain with severe non-progressive cognitive delay	http://purl.obolibrary.org/obo/MONDO_0018682	Orphanet:453510	ordo_disease
MONDO:0018681	biolink:Disease	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome		UMLS:CN237747|Orphanet:453499	mondo.json	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0018681	Orphanet:453499|UMLS:CN237747	clingen|ordo_malformation_syndrome
MONDO:0016020	biolink:Disease	frontal encephalocele		ICD10CM:Q01.0|Orphanet:1931|SCTID:253103006	mondo.json	anterior encephalocele	http://purl.obolibrary.org/obo/MONDO_0016020	Orphanet:1931|http://identifiers.org/snomedct/253103006|http://purl.bioontology.org/ontology/ICD10CM/Q01.0	ordo_clinical_subtype
MONDO:0018684	biolink:Disease	idiopathic neonatal atrial flutter	Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops.	Orphanet:45452|ICD10CM:P29.1|SCTID:715560009|UMLS:CN205105	mondo.json	neonatal cardiac dysrhythmia	http://purl.obolibrary.org/obo/MONDO_0018684	Orphanet:45452|http://purl.bioontology.org/ontology/ICD10CM/P29.1|http://identifiers.org/snomedct/715560009|UMLS:CN205105	ordo_disease
MONDO:0016021	biolink:Disease	obsolete early infantile epileptic encephalopathy			mondo.json	obsolete early infantile epileptic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0016021		
MONDO:0018683	biolink:Disease	acquired ichthyosis	Noninherited ichthyosis associated with malignancy; autoimmune, inflammatory, nutritional, metabolic, infectious, and neurologic diseases; or medications.	NCIT:C112831|MESH:C538175|GARD:0000476|ICD10CM:L85.0|SCTID:8691004|Orphanet:454	mondo.json	fish scale disease, acquired|acquired ichthyosis (disease)|ichthyosis, acquired|ichthyosis acquisita|acquired ichthyosis	http://purl.obolibrary.org/obo/MONDO_0018683	http://identifiers.org/snomedct/8691004|NCIT:C112831|http://identifiers.org/mesh/C538175|http://purl.bioontology.org/ontology/ICD10CM/L85.0|Orphanet:454	gard_rare|ordo_disease
MONDO:0016022	biolink:Disease	early myoclonic encephalopathy	Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern.	EFO:1001900|Orphanet:1935|UMLS:C0014550|GARD:0007142|SCTID:44423001|DOID:308|NCIT:C116593|UMLS:C0270855	mondo.json	myoclonus epilepsy|early myoclonic encephalopathy with suppression-bursts|early myoclonic encephalopathy|epileptic seizures - myoclonic|myoclonic seizure|myoclonic epilepsy|myoclonia epileptica|epileptic seizures, myoclonic|myoclonic seizure disorder|eme	http://purl.obolibrary.org/obo/MONDO_0016022	UMLS:C0014550|DOID:308|UMLS:C0270855|NCIT:C116593|Orphanet:1935|http://identifiers.org/snomedct/44423001	ordo_clinical_syndrome
NCBITaxon:33682	biolink:OrganismalEntity	Euglenozoa		GC_ID:1	mondo.json	Euglenozoans	http://purl.obolibrary.org/obo/NCBITaxon_33682		
HGNC:26348	biolink:NamedThing	SEPTIN12			mondo.json		http://identifiers.org/hgnc/26348		
MONDO:0004049	biolink:Disease	combat disorder	Neurotic reactions to unusual, severe, or overwhelming military stress.	SCTID:279611005|MESH:D003130|DOID:6950	mondo.json	combat stress disorder|stress disorders, combat|war neuroses|neuroses, war|neuroses, combat|disorder, combat stress|disorders, combat|Shocks, shell|war neurosis|shock, shell|neurosis, combat|disorders, combat stress|disorder, combat|stress disorder, combat|combat stress disorders|combat neurosis|neurosis, war|combat neuroses|shell shock|combat disorder|shell Shocks	http://purl.obolibrary.org/obo/MONDO_0004049	http://identifiers.org/mesh/D003130|http://identifiers.org/snomedct/279611005|DOID:6950	
MONDO:0004048	biolink:Disease	immature gastric teratoma	A malignant teratoma that arises from the stomach.	DOID:6948|UMLS:C1334151|NCIT:C5256	mondo.json	malignant gastric teratoma|malignant teratoma of the stomach|malignant teratoma of stomach|stomach malignant teratoma|immature gastric teratoma	http://purl.obolibrary.org/obo/MONDO_0004048	NCIT:C5256|UMLS:C1334151|DOID:6948	
MONDO:0004045	biolink:Disease	pediatric intraocular retinoblastoma	Retinoblastoma during childhood that has not spread beyond the eye.	NCIT:C9047|DOID:6938|UMLS:C1321869	mondo.json	childhood intraocular retinoblastoma|intraocular retinoblastoma of childhood|pediatric intraocular retinoblastoma|intraocular retinoblastoma	http://purl.obolibrary.org/obo/MONDO_0004045	NCIT:C9047|UMLS:C1321869|DOID:6938	
MONDO:0004044	biolink:Disease	ureter urothelial papilloma	A benign epithelial neoplasm that produces visible warty projections from the epithelial surface of the ureter.	DOID:6936|UMLS:C1519823|NCIT:C6160	mondo.json	ureter urothelial papilloma	http://purl.obolibrary.org/obo/MONDO_0004044	DOID:6936|NCIT:C6160|UMLS:C1519823	
MONDO:0004047	biolink:Disease	sphenoidal sinus neoplasm	A benign or malignant neoplasm that affects the sphenoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	SCTID:126679002|NCIT:C6792|DOID:6947|UMLS:C0345676	mondo.json	neoplasm of the sphenoid sinus|sphenoid sinus neoplasm|sphenoid sinus tumor|sphenoidal sinus neoplasm (disease)|neoplasm of the sphenoidal sinus|tumor of sphenoid sinus|tumor of the sphenoid sinus|neoplasm of sphenoidal sinus|sphenoidal sinus neoplasm|sphenoidal sinus tumor|tumor of the sphenoidal sinus|neoplasm of sphenoid sinus|tumor of sphenoidal sinus	http://purl.obolibrary.org/obo/MONDO_0004047	NCIT:C6792|http://identifiers.org/snomedct/126679002|UMLS:C0345676|DOID:6947	
MONDO:0004046	biolink:Disease	childhood brain meningioma	A brain meningioma that occurs during childhood.	NCIT:C6253|DOID:6939|UMLS:C1332949	mondo.json	pediatric meningioma of the brain|brain pediatric meningioma|pediatric brain meningioma|childhood meningioma of the brain|Brain meningioma|childhood meningioma of brain|pediatric meningioma of brain	http://purl.obolibrary.org/obo/MONDO_0004046	DOID:6939|UMLS:C1332949|NCIT:C6253	
MONDO:0004041	biolink:Disease	urothelial papilloma	A rare benign condition, characterized by a papillary growth in the urinary tract with a central fibrovascular core. The latter is lined by normal urothelium.	ICDO:8120/1|DOID:6933|ONCOTREE:UPA|NCIT:C3842	mondo.json	bladder papilloma|bladder transitional cell papilloma|urothelial papilloma|uPA|transitional cell papilloma of bladder	http://purl.obolibrary.org/obo/MONDO_0004041	NCIT:C3842|DOID:6933	
MONDO:0004040	biolink:Disease	urinary bladder inverted papilloma	A neoplasm of the bladder in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria.	DOID:6932|NCIT:C39859|SCTID:447765004|UMLS:C1511190	mondo.json	urinary bladder inverted papilloma|bladder inverted papilloma	http://purl.obolibrary.org/obo/MONDO_0004040	DOID:6932|UMLS:C1511190|http://identifiers.org/snomedct/447765004|NCIT:C39859	
MONDO:0004043	biolink:Disease	ureter inverted papilloma	A neoplasm of the ureter in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria.	DOID:6935|UMLS:C1336874|NCIT:C6174	mondo.json	inverted papilloma of ureter|inverted papilloma of the ureter|ureteral inverted papilloma|ureter inverted papilloma	http://purl.obolibrary.org/obo/MONDO_0004043	UMLS:C1336874|DOID:6935|NCIT:C6174	
MONDO:0004042	biolink:Disease	urethra inverted papilloma	A neoplasm of the urethra in which the epithelial cells grow downward into the underlying supportive tissue.	NCIT:C6173|UMLS:C1336887|DOID:6934	mondo.json	inverted papilloma of the urethra|inverted papilloma of urethra|urethra inverted papilloma|urethral inverted papilloma	http://purl.obolibrary.org/obo/MONDO_0004042	UMLS:C1336887|DOID:6934|NCIT:C6173	
HP:0005339	biolink:PhenotypicFeature	Abnormality of complement system	An abnormality of the complement system.	UMLS:C4025213	mondo.json		http://purl.obolibrary.org/obo/HP_0005339		
MONDO:0018679	biolink:Disease	primary cutaneous plasmacytosis		Orphanet:451602	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018679	Orphanet:451602	ordo_disease
MONDO:0016016	biolink:Disease	toluene embryopathy	Toluene embryopathy is a neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.	MESH:C538114|GARD:0002672|UMLS:C2931737|Orphanet:1920	mondo.json	Hersh Podruch Weisskopk syndrome|toluene embryopathy|microcephaly, central nervous system dysfunction, minor craniofacial and limb anomalies, and variable growth deficiency	http://purl.obolibrary.org/obo/MONDO_0016016	UMLS:C2931737|http://identifiers.org/mesh/C538114|Orphanet:1920	ordo_malformation_syndrome|gard_rare
MONDO:0018678	biolink:Disease	polyclonal hyperviscosity syndrome		ICD10CM:D89.0|Orphanet:450322|UMLS:CN237743	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018678	Orphanet:450322|UMLS:CN237743	ordo_clinical_syndrome
MONDO:0016017	biolink:Disease	methimazole embryofetopathy	Methimazole embryopathy is a teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia.	SCTID:724144006|GARD:0003573|UMLS:C4510379|Orphanet:1923	mondo.json	methimazole embryofetopathy|MMI/CMZ embryofetopathy|Methimazole/carbimazole embryofetopathy|Methimazole antenatal exposure|MMI/CMZ embryopathy|Methimazole/carbimazole embryopathy|fetal methimazole syndrome	http://purl.obolibrary.org/obo/MONDO_0016017	UMLS:C4510379|http://identifiers.org/snomedct/724144006|Orphanet:1923	gard_rare|ordo_malformation_syndrome
MONDO:0016018	biolink:Disease	diabetic embryopathy	Diabetic embryopathy is characterized by congenital anomalies or foetal/neonatal complications in an infant that are linked to diabetes in the mother.	Orphanet:1926|UMLS:C3830518|SCTID:716020005|NCIT:C113485	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016018	UMLS:C3830518|NCIT:C113485|http://identifiers.org/snomedct/716020005|Orphanet:1926	ordo_malformation_syndrome
MONDO:0016019	biolink:Disease	Rasmussen subacute encephalitis	A rare, progressive chronic inflammation of a single cerebral hemisphere that usually affects children. It is characterized by severe seizures, loss of motor skills and speech, hemiparesis, and dementia.	NCIT:C125384|Orphanet:1929|GARD:0007527|SCTID:230191005|ICD9:323.9|MESH:C535291|UMLS:C2930868	mondo.json	RE|Rasmussen encephalitis|Rasmussen syndrome|chronic focal encephalitis|CFE	http://purl.obolibrary.org/obo/MONDO_0016019	http://identifiers.org/mesh/C535291|NCIT:C125384|http://identifiers.org/snomedct/230191005|UMLS:C2930868|Orphanet:1929	ordo_disease
MONDO:0016012	biolink:Disease	diethylstilbestrol syndrome	Diethylstilbestrol (DES) syndrome is a malformation syndrome reported in offspring (children and grandchildren) of women exposed to DES during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage.	MedDRA:10012780|Orphanet:1916|SCTID:716005004|GARD:0001859|NCIT:C113422|UMLS:C0853695	mondo.json	antenatal diethylstilbestrol exposure|fetal diethylstilbestrol syndrome|Distilbene embryofetopathy|DES syndrome|DES embryofetopathy|diethylstilbestrol embryofetopathy	http://purl.obolibrary.org/obo/MONDO_0016012	UMLS:C0853695|NCIT:C113422|http://identifiers.org/snomedct/716005004|Orphanet:1916	ordo_disease|gard_rare
MONDO:0018675	biolink:Disease	IgG4-related ophthalmic disorder	A IgG4-related disease that involves the eye.	Orphanet:449563|UMLS:CN237741	mondo.json	eye IgG4-related disease|IgG4-related disease of eye	http://purl.obolibrary.org/obo/MONDO_0018675	Orphanet:449563|UMLS:CN237741	ordo_disease
MONDO:0016013	biolink:Disease	fetal methylmercury syndrome	Foetal methylmercury syndrome is characterised by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.	GARD:0003575|Orphanet:1917|SCTID:62110005|ICD9:759.89|MESH:D020262	mondo.json	Minamata disease|Methyl mercury antenatal infection|Methyl mercury antenatal exposure	http://purl.obolibrary.org/obo/MONDO_0016013	http://identifiers.org/snomedct/62110005|http://identifiers.org/mesh/D020262|Orphanet:1917	gard_rare|ordo_malformation_syndrome
MONDO:0018674	biolink:Disease	IgG4-related submandibular gland disease	A chronic fibrotic inflammatory process affecting the salivary gland. Signs and symptoms include firm and painful swelling of the salivary gland, often associated with the presence of salivary gland stones.	Orphanet:449432|SCTID:448131008|NCIT:C82887	mondo.json	Kuttner's tumor|chronic sclerosing sialadenitis|Kuttner tumor|IgG4-related sialadenitis|Küttner tumor	http://purl.obolibrary.org/obo/MONDO_0018674	http://identifiers.org/snomedct/448131008|NCIT:C82887|Orphanet:449432	ordo_disease
MONDO:0018677	biolink:Disease	visceral heterotaxy	A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton.	NCIT:C117273|OMIMPS:306955|DOID:0050545|EFO:0009081|UMLS:C3178805|MedDRA:10067265|Orphanet:450	mondo.json	heterotaxia syndrome|lateralization defect|situs ambiguus|heterotaxy, visceral|visceral heterotaxy|heterotaxy syndrome|heterotaxia	http://purl.obolibrary.org/obo/MONDO_0018677	https://omim.org/phenotypicSeries/PS306955|NCIT:C117273|UMLS:C3178805|Orphanet:450|DOID:0050545	ordo_group_of_disorders|clingen|disease_grouping
MONDO:0016014	biolink:Disease	fetal minoxidil syndrome	Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available.	Orphanet:1918|GARD:0002308|SCTID:254251003|ICD9:760.79|UMLS:C0432373	mondo.json	minoxidil antenatal infection|minoxidil antenatal exposure	http://purl.obolibrary.org/obo/MONDO_0016014	http://identifiers.org/snomedct/254251003|Orphanet:1918|UMLS:C0432373	gard_rare|ordo_malformation_syndrome
MONDO:0016015	biolink:Disease	phenobarbital embryopathy	A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.	Orphanet:1919|SCTID:715431002|UMLS:C4275281|GARD:0004315	mondo.json	phenobarbital antenatal exposure	http://purl.obolibrary.org/obo/MONDO_0016015	UMLS:C4275281|http://identifiers.org/snomedct/715431002|Orphanet:1919	ordo_malformation_syndrome
MONDO:0018676	biolink:Disease	eosinophilic angiocentric fibrosis		Orphanet:449566|GARD:0002032	mondo.json	eosinophilic angiocentric fibrosis|EAF|Sinonasal eosinophilic angiocentric fibrosis|IgG4-related eosinophilic angiocentric fibrosis	http://purl.obolibrary.org/obo/MONDO_0018676	Orphanet:449566	ordo_disease|gard_rare
MONDO:0018671	biolink:Disease	IgG4-related kidney disease		UMLS:CN237737|Orphanet:449395	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018671	Orphanet:449395|UMLS:CN237737	ordo_disease
HGNC:14361	biolink:NamedThing	IRX5			mondo.json		http://identifiers.org/hgnc/14361		
MONDO:0018670	biolink:Disease	symptomatic form of fragile X syndrome in female carrier		UMLS:CN237736|Orphanet:449291	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018670	Orphanet:449291|UMLS:CN237736	ordo_disease
MONDO:0018673	biolink:Disease	IgG4-related pachymeningitis	Idiopathic hypertrophic pachymeningitis (IHP) is a rare disorder causing inflammation and thickening of the outer layer (dura) of the brain and/or spinal cord. IHP can be widespread or cause tumor-like lesions. Before IHP can be diagnosed, other conditions including sarcoidosis, tumors, meningioma, infections (syphilis, tuberculosis, and Lyme disease), and autoimmune diseases (rheumatoid arthritis, Sjogrenbs syndrome, Wegenerbs granulomatosis, and IgG4-related disease) must be ruled out. IHP often presents with headache and cranial nerve impairment. Treatment may involve prednisone and/or an immune suppressing drug. This treatment often improves symptoms, however complete recovery is rare. Surgery may be recommended for people with advanced or severe IHP. Some people with IHP have no symptoms and may not need treatment.	UMLS:C4545992|Orphanet:449427|SCTID:762282007|GARD:0013256	mondo.json	idiopathic hypertrophic pachymeningitis|idiopathic hypertrophic craniospinal pachymeningitis|idiopathic hypertrophic spinal pachymeningitis|idiopathic hypertrophic cranial pachymeningitis	http://purl.obolibrary.org/obo/MONDO_0018673	http://identifiers.org/snomedct/762282007|Orphanet:449427|UMLS:C4545992	ordo_disease|gard_rare
MONDO:0016010	biolink:Disease	vitamin K-antagonist embryofetopathy	A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly.	MESH:C536683|MedDRA:10051445|UMLS:C0265374|ICD9:759.89|NCIT:C98906|GARD:0008580|Orphanet:1914|SCTID:38323006	mondo.json	fetal warfarin syndrome|vitamin K-antagonist embryopathy|congenital warfarin syndrome|di Sala syndrome|coumarin embryopathy|vitamin K-antagonist embryofetopathy|vitamin K antagonists embryofetopathy|warfarin embryofetopathy|warfarin syndrome|fetal Coumadin syndrome|DiSala syndrome|warfarin embryopathy|embryofetopathy due to oral anticoagulant therapy|coumarin syndrome|vitamin K antagonist embryofetopathy|fetal anticoagulant syndrome|vitamin K antagonist embryopathy	http://purl.obolibrary.org/obo/MONDO_0016010	NCIT:C98906|http://identifiers.org/snomedct/38323006|UMLS:C0265374|Orphanet:1914|http://identifiers.org/mesh/C536683	gard_rare|ordo_malformation_syndrome
MONDO:0016011	biolink:Disease	fetal alcohol syndrome	Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention).	Orphanet:1915|SCTID:205788004|MedDRA:10016845|UMLS:C0015923|DOID:0050667|DOID:0050665|NCIT:C84713	mondo.json	alcohol-related birth defects|static encephalopathy|FASD|alcohol-related neurodevelopmental disorder|ARND|FAS|fetal alcohol spectrum disorders|ARBD	http://purl.obolibrary.org/obo/MONDO_0016011	NCIT:C84713|UMLS:C0015923|Orphanet:1915|DOID:0050667|DOID:0050665|http://identifiers.org/snomedct/205788004	ordo_malformation_syndrome
MONDO:0018672	biolink:Disease	IgG4-related aortitis		Orphanet:449400	mondo.json	IgG4-related periaortitis	http://purl.obolibrary.org/obo/MONDO_0018672	Orphanet:449400	ordo_disease
MONDO:0004019	biolink:Disease	oxyphilic endometrial endometrioid adenocarcinoma	A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of eosinophilic malignant glandular epithelial cells.	NCIT:C27849|DOID:6865|UMLS:C1518768	mondo.json	oxyphilic endometrial endometrioid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004019	NCIT:C27849|UMLS:C1518768|DOID:6865	
MONDO:0006679	biolink:Disease	bladder neck obstruction	Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra.	ICD9:596.0|DOID:13948|ICD10CM:N32.0|UMLS:C0005694|MedDRA:10005053|SCTID:399072004|EFO:1000840|MESH:D001748	mondo.json	obstruction of bladder neck or vesicourethral orifice	http://purl.obolibrary.org/obo/MONDO_0006679	http://purl.bioontology.org/ontology/ICD10CM/N32.0|DOID:13948|http://identifiers.org/snomedct/399072004|UMLS:C0005694|http://identifiers.org/mesh/D001748	
MONDO:0004016	biolink:Disease	pineal region mature teratoma		UMLS:C1335417|NCIT:C6754|DOID:6857	mondo.json	mature teratoma of the pineal area|mature teratoma of pineal area|mature teratoma of the pineal region|pineal area mature teratoma|mature teratoma of pineal region	http://purl.obolibrary.org/obo/MONDO_0004016	NCIT:C6754|UMLS:C1335417|DOID:6857	
MONDO:0004015	biolink:Disease	pineal region teratoma	A mature or immature teratoma that arises in the pineal region.	NCIT:C6753|DOID:6856|UMLS:C1335419	mondo.json	teratoma of the pineal region|teratoma of pineal region|pineal area teratoma|teratoma of the pineal area|teratoma of pineal area	http://purl.obolibrary.org/obo/MONDO_0004015	NCIT:C6753|UMLS:C1335419|DOID:6856	
MONDO:0004018	biolink:Disease	obsolete liver carcinoma	OBSOLETE. A carcinoma that involves the liver.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0004018		
MONDO:0006677	biolink:Disease	bile reflux	Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (duodenogastric reflux); to the esophagus (gastroesophageal reflux); or to the pancreas.	DOID:12237|MESH:D001655|EFO:1000838|UMLS:C0005403	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006677	DOID:12237|UMLS:C0005403|http://identifiers.org/mesh/D001655	
MONDO:0006678	biolink:Disease	bladder calculus	A concretion in the urinary bladder.	ICD9:594.1|MedDRA:10005001|EFO:1000839|UMLS:C0005683|DOID:11355|SCTID:70650003|MESH:D001744	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006678	DOID:11355|UMLS:C0005683|http://identifiers.org/snomedct/70650003|http://identifiers.org/mesh/D001744	
MONDO:0004017	biolink:Disease	pineal region immature teratoma		NCIT:C6755|UMLS:C1335416|DOID:6858	mondo.json	immature teratoma of the pineal area|immature teratoma of pineal area|atypical pineal teratoma|pineal area immature teratoma|immature teratoma of the pineal region|immature teratoma of pineal region	http://purl.obolibrary.org/obo/MONDO_0004017	NCIT:C6755|UMLS:C1335416|DOID:6858	
NCBITaxon:116706	biolink:OrganismalEntity	Heterotremata		GC_ID:1	mondo.json	Brachyrhyncha	http://purl.obolibrary.org/obo/NCBITaxon_116706		
MONDO:0004012	biolink:Disease	adult botryoid rhabdomyosarcoma	A morphologic variant of embryonal rhabdomyosarcoma occurring in adults. The neoplasm arises from organs containing a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.	UMLS:C1332185|NCIT:C36099|DOID:6847	mondo.json	botryoid rhabdomyosarcoma of adults|adult botryoid sarcoma|adult botryoid-type embryonal rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0004012	NCIT:C36099|UMLS:C1332185|DOID:6847	
MONDO:0006675	biolink:Disease	obsolete benign monoclonal gammopathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006675		
MONDO:0006676	biolink:Disease	beriberi	Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases,beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth.	ICD9:265.0|MedDRA:10004482|SCTID:36656008|MESH:D001602|EFO:1000837|UMLS:C0005122|DOID:0070313|GARD:0009948|NCIT:C34418|DOID:13725	mondo.json	vitamin B1 deficiency|thiamine deficiency|Beri Beri	http://purl.obolibrary.org/obo/MONDO_0006676	DOID:13725|UMLS:C0005122|http://identifiers.org/snomedct/36656008|DOID:0070313|http://identifiers.org/mesh/D001602|NCIT:C34418	gard_rare
NCBITaxon:116704	biolink:OrganismalEntity	Eubrachyura		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_116704		
MONDO:0004011	biolink:Disease	obsolete familial melanoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004011		
OBO:ECTO_9001718	biolink:NamedThing	exposure to anti-inflammatory drug	An exposure to anti-inflammatory drug.		mondo.json	exposure to anti-inflammatory drug	http://purl.obolibrary.org/obo/ECTO_9001718		
MONDO:0006673	biolink:Disease	pituitary gland basophil adenoma	An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes.	DOID:4542|NCIT:C2856|MESH:D000237|EFO:1000834|UMLS:C0001431|ICDO:8300/0	mondo.json	mucoid cell adenoma|basophilic adenoma|basophil adenoma|pituitary basophilic adenoma|pituitary gland basophilic adenoma|basophilic pituitary gland adenoma	http://purl.obolibrary.org/obo/MONDO_0006673	NCIT:C2856|UMLS:C0001431|http://identifiers.org/mesh/D000237|DOID:4542	
MONDO:0004014	biolink:Disease	ethmoid sinus ectopic meningioma	An extremely rare meningioma that arises as a primary ectopic tumor in the ethmoid sinus.	DOID:6854|NCIT:C5309|UMLS:C1333475	mondo.json	primary ectopic meningioma of the ethmoidal sinus|ethmoidal sinus primary ectopic meningioma|primary ectopic meningioma of ethmoidal sinus|ethmoid sinus primary ectopic meningioma|primary ectopic meningioma of the ethmoid sinus|primary ectopic meningioma of ethmoid sinus	http://purl.obolibrary.org/obo/MONDO_0004014	NCIT:C5309|UMLS:C1333475|DOID:6854	
MONDO:0006674	biolink:Disease	obsolete benign fibrous mesothelioma	OBSOLETE. A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure.	UMLS:C0334511|SCTID:254646001|MESH:D054363|DOID:2653|NCIT:C4457|EFO:1000835	mondo.json	localized benign fibrous mesothelioma|solitary fibrous tumor, pleural|fibrous mesothelioma, benign|fibrous mesothelioma, benign (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0006674	DOID:2653|UMLS:C0334511|http://identifiers.org/mesh/D054363	
MONDO:0004013	biolink:Disease	adult vagina botryoid embryonal rhabdomyosarcoma	A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. It occurs in female adults.	UMLS:C1515893|DOID:6848|NCIT:C40267	mondo.json	adult sarcoma Botryoides of the vagina|botryoid-type embryonal rhabdomyosarcoma of the vagina of adults|adult vagina botryoid rhabdomyosarcoma|adult botryoid-type embryonal rhabdomyosarcoma of the vagina	http://purl.obolibrary.org/obo/MONDO_0004013	NCIT:C40267|UMLS:C1515893|DOID:6848	
MONDO:0006671	biolink:Disease	Bacteroides infectious disease	Infections with bacteria of the genus bacteroides.	UMLS:C0004669|EFO:1000832|SCTID:2918000|MESH:D001442|ICD9:041.84	mondo.json	Bacteroides caused disease or disorder|infection, Bacteroides|infection caused by Bacteroides|Bacteroides disease or disorder|Bacteroides infection|infection due to Bacteroides|infections, Bacteroides	http://purl.obolibrary.org/obo/MONDO_0006671	UMLS:C0004669|http://identifiers.org/mesh/D001442|http://identifiers.org/snomedct/2918000	
MONDO:0006672	biolink:Disease	balanitis	An infectious or non-infectious inflammatory process that affects the glans penis. Symptoms include redness and pain of the glans penis and foreskin and discharge.	ICD10WHO:N48.1|UMLS:C0004690|EFO:1000833|NCIT:C26705|ICD10CM:N48.1|DOID:13033|MESH:D001446|SCTID:44882003|MedDRA:10004073	mondo.json	inflammation of glans penis|glans penis inflammation|balanitis	http://purl.obolibrary.org/obo/MONDO_0006672	NCIT:C26705|UMLS:C0004690|http://identifiers.org/snomedct/44882003|http://identifiers.org/mesh/D001446|https://icd.who.int/browse10/2019/en#/N48.1|DOID:13033|http://purl.bioontology.org/ontology/ICD10CM/N48.1	
MONDO:0004010	biolink:Disease	infiltrating renal pelvis/ureter urothelial carcinoma		NCIT:C39879|UMLS:C1512750	mondo.json	infiltrating renal pelvis and ureter transitional cell carcinoma|infiltrating renal pelvis and ureter urothelial carcinoma|infiltrating ureter transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004010	NCIT:C39879|UMLS:C1512750	
MONDO:0006670	biolink:Disease	bacterial meningitis	Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection.	UMLS:C0085437|MedDRA:10004049|SCTID:95883001|GARD:0005881|ICD9:320|NCIT:C118297|EFO:1000831|ICD9:320.7|ICD9:320.9|ICD9:320.89|DOID:9470|MESH:D016920	mondo.json	meningitis, bacterial|Bacteria caused infectious meningitis|Bacteria infectious meningitis	http://purl.obolibrary.org/obo/MONDO_0006670	DOID:9470|NCIT:C118297|http://identifiers.org/mesh/D016920|UMLS:C0085437|http://identifiers.org/snomedct/95883001	gard_rare
MONDO:0016009	biolink:Disease	fetal trimethadione syndrome	Fetal trimethadione syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects.	UMLS:C0265373|MESH:C537798|SCTID:66351003|Orphanet:1913|ICD9:759.89	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016009	UMLS:C0265373|http://identifiers.org/mesh/C537798|Orphanet:1913|http://identifiers.org/snomedct/66351003	ordo_malformation_syndrome
OBO:ECTO_9001711	biolink:NamedThing	exposure to antiinfective agent	An exposure to antiinfective agent.		mondo.json	exposure to antiinfective agent	http://purl.obolibrary.org/obo/ECTO_9001711		
OBO:ECTO_9001712	biolink:NamedThing	exposure to antiparasitic agent	An exposure to antiparasitic agent.		mondo.json	exposure to antiparasitic agent	http://purl.obolibrary.org/obo/ECTO_9001712		
MONDO:0018668	biolink:Disease	scedosporiosis		Orphanet:449280|MESH:C000656924	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018668	Orphanet:449280|http://identifiers.org/mesh/C000656924	ordo_disease
MONDO:0016005	biolink:Disease	indomethacin embryofetopathy	Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants.	Orphanet:1909|GARD:0002994|UMLS:C4275138|SCTID:715430001|UMLS:CN200656	mondo.json	fetal indomethacin syndrome|antenatal indomethacin exposure	http://purl.obolibrary.org/obo/MONDO_0016005	UMLS:C4275138|http://identifiers.org/snomedct/715430001|Orphanet:1909|UMLS:CN200656	ordo_malformation_syndrome
HGNC:14335	biolink:NamedThing	PLEKHA1			mondo.json		http://identifiers.org/hgnc/14335		
MONDO:0016006	biolink:Disease	Cockayne syndrome	A multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.	MedDRA:10009835|UMLS:C0009207|NCIT:C9460|GARD:0006122|Orphanet:191|ICD9:759.89|SCTID:21086008|MESH:D003057|DOID:2962	mondo.json	dwarfism-retinal atrophy-deafness syndrome|progeria-like syndrome|Neill-Dingwall syndrome|Cockayne's syndrome|progeroid nanism	http://purl.obolibrary.org/obo/MONDO_0016006	http://identifiers.org/snomedct/21086008|DOID:2962|http://identifiers.org/mesh/D003057|UMLS:C0009207|NCIT:C9460|Orphanet:191	ordo_disease
MONDO:0018667	biolink:Disease	pleural empyema	The presence of pus in the thoracic cavity, between the visceral and parietal pleura.	MESH:D016724|HP:0011919|Orphanet:449266|SCTID:405950009|DOID:3798	mondo.json	abscess of pleural cavity|pyothorax|thorax abscess|purulent pleurisy|purulent pleuritis|empyema of pleura|pleural empyema|abscess of thorax|pleural empyema (disease)|empyema	http://purl.obolibrary.org/obo/MONDO_0018667	DOID:3798|http://identifiers.org/snomedct/405950009|http://identifiers.org/mesh/D016724|Orphanet:449266	ordo_clinical_situation
HGNC:16997	biolink:NamedThing	MLLT11			mondo.json		http://identifiers.org/hgnc/16997		
MONDO:0016007	biolink:Disease	cocaine embryofetopathy	A group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring.	ICD9:760.75|SCTID:254250002|Orphanet:1911|GARD:0001413|UMLS:C0432371	mondo.json	prenatal cocaine exposure|cocaine antenatal exposure|cocaine fetopathy|fetal cocaine syndrome	http://purl.obolibrary.org/obo/MONDO_0016007	Orphanet:1911|UMLS:C0432371|http://identifiers.org/snomedct/254250002	ordo_malformation_syndrome|gard_rare
MONDO:0016008	biolink:Disease	fetal hydantoin syndrome	Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.	MESH:C537922|SCTID:70065001|NCIT:C98927|GARD:0006435|Orphanet:1912|MedDRA:10016508|UMLS:C0265372|ICD10CM:Q86.1|ICD9:759.89	mondo.json	fetal dihydantoin syndrome|phenytoin embryofetopathy|phenytoin embryopathy|Dilantin embryopathy	http://purl.obolibrary.org/obo/MONDO_0016008	Orphanet:1912|http://identifiers.org/mesh/C537922|http://identifiers.org/snomedct/70065001|NCIT:C98927|http://purl.bioontology.org/ontology/ICD10CM/Q86.1|UMLS:C0265372	ordo_malformation_syndrome|gard_rare
MONDO:0018669	biolink:Disease	snakebite envenomation		Orphanet:449285|UMLS:CN237735|SCTID:61288004	mondo.json	snake bite poisoning|poisoning caused by venomous snake|poisoning by venomous snake|snake venom causing toxic effect|snake venom poisoning|toxic effect of bite of venomous snake	http://purl.obolibrary.org/obo/MONDO_0018669	UMLS:CN237735|Orphanet:449285|http://identifiers.org/snomedct/61288004	ordo_clinical_situation
HGNC:16999	biolink:NamedThing	CLP1			mondo.json		http://identifiers.org/hgnc/16999		
MONDO:0018664	biolink:Disease	ectopia cordis	A rare congenital anomaly where the heart is formed outside of the thoracic cavity. It is associated with intracardiac lesions and other structural malformations.	HP:0001683|NCIT:C111643|ICD9:746.87|Orphanet:448270|SCTID:78250005|MESH:D054083	mondo.json	ectopia cordis|ectopia cordis (disease)	http://purl.obolibrary.org/obo/MONDO_0018664	NCIT:C111643|http://identifiers.org/snomedct/78250005|http://identifiers.org/mesh/D054083|Orphanet:448270	ordo_morphological_anomaly
MONDO:0016001	biolink:Disease	2-hydroxyglutaric aciduria	2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.	NCIT:C128187|DOID:0050573|SCTID:698870008|UMLS:C2746066|Orphanet:19|MESH:C535306|ICD9:270.8|GARD:0010761	mondo.json	2-HGA|2-hydroxyglutaric aciduria|2-hydroxyglutaric acidemia	http://purl.obolibrary.org/obo/MONDO_0016001	UMLS:C2746066|http://identifiers.org/snomedct/698870008|Orphanet:19|NCIT:C128187|DOID:0050573|http://identifiers.org/mesh/C535306	ordo_group_of_disorders|disease_grouping|gard_rare
MONDO:0018663	biolink:Disease	regressive spondylometaphyseal dysplasia		Orphanet:448267|UMLS:CN248525|OMIM:618019	mondo.json	regressive spondylometaphyseal dysplasia|Pelger-Huet anomaly with mild skeletal anomalies	http://purl.obolibrary.org/obo/MONDO_0018663	UMLS:CN248525|https://omim.org/entry/618019|Orphanet:448267	ordo_malformation_syndrome
MONDO:0016002	biolink:Disease	Ehlers-Danlos syndrome, kyphoscoliotic type 1	A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.	UMLS:CN202461|MESH:C536198|NCIT:C125700|GARD:0002083|OMIM:225400|SCTID:718211004|Orphanet:1900|UMLS:C0268342	mondo.json	EDS 6 (formerly)|kEDS|Ehlers-Danlos syndrome kyphoscoliotic type|Ehlers-Danlos syndrome, type VIA, formerly|kyphoscoliotic EDS|EDSKSCL1|nevo syndrome|Ehlers-Danlos syndrome, type VIA|Ehlers-Danlos syndrome oculoscoliotic type|Ehlers-Danlos syndrome type 6 (formerly)|Ehlers-Danlos syndrome, ocular-scoliotic type|kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency|EDS, kyphoscoliotic type|Ehlers-Danlos syndrome, type 6 A|Ehlers-Danlos syndrome, kyphoscoliosis type|EDS 6|Ehlers-Danlos syndrome, oculoscoliotic type|Ehlers-Danlos syndrome, kyphoscoliotic type|Ehlers-Danlos syndrome, type VI|EDS6|Ehlers-Danlos syndrome, kyphoscoliotic type 1|Ehlers-Danlos syndrome type 6A (formerly)|kyphoscoliotic Ehlers-Danlos syndrome|EDS, oculoscoliotic type|Ehlers-Danlos syndrome, kyphoscoliotic type, 1|Ehlers-Danlos syndrome, type Via, formerly|Ehlers-Danlos syndrome, type 6|EDS6A, formerly|Ehlers-Danlos syndrome type 6A|Ehlers-Danlos syndrome, type Via|EDS VI|EDS VIA	http://purl.obolibrary.org/obo/MONDO_0016002	http://identifiers.org/snomedct/718211004|NCIT:C125700|UMLS:C0268342|UMLS:CN202461|http://identifiers.org/mesh/C536198|https://omim.org/entry/225400|Orphanet:1900	ordo_disease
HGNC:16993	biolink:NamedThing	SEC61B			mondo.json		http://identifiers.org/hgnc/16993		
MONDO:0016003	biolink:Disease	ehrlichiosis	Human ehrlichiosis and anaplasmosis describe a group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations. Diseases in this group include human monocytotropic ehrlichiosis (HME), human granulocytotropic anaplasmosis (HGA), and human ehrlichiosis ewingii (HEE).	MESH:D016873|ICD9:082.4|SCTID:240626005|Orphanet:1902|DOID:10242|UMLS:C0085399|GARD:0002092|ICD9:082.40	mondo.json	human ehrlichiosis	http://purl.obolibrary.org/obo/MONDO_0016003	DOID:10242|http://identifiers.org/mesh/D016873|UMLS:C0085399|http://identifiers.org/snomedct/240626005|Orphanet:1902	ordo_disease
MONDO:0018666	biolink:Disease	hepatoblastoma	Hepatoblastoma (HB) is a malignant hepatic tumor and is the most common pediatric liver cancer. It is characterized by anorexia, weight loss and an enlarged abdomen. HB is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5% of HB cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy.	DOID:687|EFO:1000292|MESH:D018197|MedDRA:10062001|NCIT:C3728|ICDO:8970/3|GARD:0002657|ONCOTREE:LIHB|Orphanet:449|UMLS:C0206624	mondo.json	HBL|hepatoblastoma, malignant|pediatric hepatoblastoma|hepatoblastoma|pediatric embryonal hepatoma	http://purl.obolibrary.org/obo/MONDO_0018666	http://identifiers.org/mesh/D018197|NCIT:C3728|DOID:687|Orphanet:449|UMLS:C0206624	ordo_disease
MONDO:0018665	biolink:Disease	X-linked acrogigantism due to a point mutation		Orphanet:448348|UMLS:CN237730	mondo.json	familial infantile gigantism due to a point mutation|X-LAG (X-linked acrogigantism) due to a point mutation	http://purl.obolibrary.org/obo/MONDO_0018665	Orphanet:448348|UMLS:CN237730	ordo_etiological_subtype
MONDO:0016004	biolink:Disease	aminopterin/methotrexate embryofetopathy	Aminopterin/Methotrexate embryofetopathy is a syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.	UMLS:C0432367|Orphanet:1908|SCTID:65986000|GARD:0002294|ICD9:759.89|NCIT:C98928|MedDRA:10071183	mondo.json	aminopterin syndrome|fetal aminopterin syndrome|aminopterin embryopathy syndrome|aminopterin fetopathy syndrome|fetal methotrexate syndrome	http://purl.obolibrary.org/obo/MONDO_0016004	http://identifiers.org/snomedct/65986000|UMLS:C0432367|NCIT:C98928|Orphanet:1908	ordo_malformation_syndrome|gard_rare
NCBITaxon:33677	biolink:OrganismalEntity	Acanthamoebidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_33677		
MONDO:0018660	biolink:Disease	hemophilia	Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.	NCIT:C3093|GARD:0010418|MedDRA:10061992|SCTID:90935002|Orphanet:448|UMLS:C0684275	mondo.json	hemophilia	http://purl.obolibrary.org/obo/MONDO_0018660	NCIT:C3093|Orphanet:448|UMLS:C0684275|http://identifiers.org/snomedct/90935002	ordo_group_of_disorders|disease_grouping
CHR:9606-chr15q13.3	biolink:NamedThing	15q13.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr15q13.3		
MONDO:0018662	biolink:Disease	autosomal recessive brachyolmia	Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.	Orphanet:448242|UMLS:CN237725	mondo.json	brachyolmia, Hobaek/Toledo type|brachyolmia, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0018662	Orphanet:448242|UMLS:CN237725	ordo_malformation_syndrome
MONDO:0018661	biolink:Disease	Zika virus infectious disease	Mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy.	Orphanet:448237|SCTID:3928002|ICD10CM:A92.5|UMLS:CN237724|DOID:0060478|NCIT:C128423|MESH:D000071243|UMLS:C0276289|GARD:0012894	mondo.json	Zika virus disease or disorder|fever, Zika|congenital Zika virus infection|congenital Zika syndrome|Zika virus infection|Zika virus infectious disease|Zika fever|Zika virus caused disease or disorder|Zika|ZikV infection|Zika virus disease	http://purl.obolibrary.org/obo/MONDO_0018661	DOID:0060478|http://identifiers.org/snomedct/3928002|http://purl.bioontology.org/ontology/ICD10CM/A92.5|Orphanet:448237|NCIT:C128423|http://identifiers.org/mesh/D000071243|UMLS:C0276289|UMLS:CN237724	ordo_disease|gard_rare
MONDO:0016000	biolink:Disease	familial isolated hypoparathyroidism due to impaired PTH secretion		UMLS:CN200646|Orphanet:189466	mondo.json		http://purl.obolibrary.org/obo/MONDO_0016000	Orphanet:189466|UMLS:CN200646	ordo_clinical_subtype
MONDO:0004027	biolink:Disease	obsolete embryonal cancer			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004027		
MONDO:0004026	biolink:Disease	skin tag	A small, benign growth that arises from the skin. It is characterized by the presence of fibrovascular tissue lined by epidermis. It may be sessile or pendulous and usually occurs in sites where there is friction.	SCTID:201091002|DOID:6873|UMLS:C0037293|NCIT:C3374	mondo.json	cutaneous fibroepithelial polyp|fibroepithelial polyp of the skin|soft fibroma|fibroepithelial polyp of skin|acrochordon|fibroepithelial polyp|cutaneous tag|fibroma molle	http://purl.obolibrary.org/obo/MONDO_0004026	http://identifiers.org/snomedct/201091002|NCIT:C3374|DOID:6873|UMLS:C0037293	
MONDO:0006688	biolink:Disease	byssinosis	An occupational lung disorder caused by exposure to cotton dust. It occurs more commonly in workers in the textile industry. Signs and symptoms include chest tightness, cough and wheezing. The symptoms tend to get worse at the beginning of the week and subside by the end of the week.	MedDRA:10006822|SCTID:13151001|MESH:D002095|UMLS:C2242894|ICD9:504|DOID:10323|EFO:1000851|UMLS:C0006542|NCIT:C84605|GARD:0005976|ICD10CM:J66.0	mondo.json	pneumoconiosis from cotton dust|cotton dust pneumoconiosis|stripper's asthma|textile worker's lung|cotton mill fever|flax-dressers' disease|Monday morning fever	http://purl.obolibrary.org/obo/MONDO_0006688	http://identifiers.org/snomedct/13151001|UMLS:C0006542|DOID:10323|NCIT:C84605|http://identifiers.org/mesh/D002095|http://purl.bioontology.org/ontology/ICD10CM/J66.0|UMLS:C2242894	gard_rare
MONDO:0004029	biolink:Disease	obsolete ureter small cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004029		
MONDO:0004028	biolink:Disease	small intestinal fibrosarcoma	A usually aggressive malignant neoplasm arising from the small intestine. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	DOID:6880|NCIT:C5336|UMLS:C1335994	mondo.json	fibrosarcoma of small bowel|small bowel fibrosarcoma|fibrosarcoma of the small intestine|fibrosarcoma of small intestine|fibrosarcoma, small intestine|small intestine fibrosarcoma (disease)|small intestine fibrosarcoma|fibrosarcoma of the small bowel|small intestinal fibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0004028	NCIT:C5336|UMLS:C1335994|DOID:6880	
MONDO:0006689	biolink:Disease	obsolete carcinoid syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006689		
MONDO:0006686	biolink:Disease	brain stem infarction	Infarctions that occur in the brain stem which is comprised of the midbrain; pons; and medulla oblongata. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury.	MESH:D020526|EFO:1000847|UMLS:C0521542|SCTID:95457000|ICD9:434.91|DOID:3523	mondo.json	brain infarction of brainstem|brainstem infarction|brainstem brain infarction	http://purl.obolibrary.org/obo/MONDO_0006686	UMLS:C0521542|http://identifiers.org/mesh/D020526|http://identifiers.org/snomedct/95457000|DOID:3523	
MONDO:0004023	biolink:Disease	obsolete hepatoblastoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004023		
MONDO:0006687	biolink:Disease	burning mouth syndrome	A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth.	Orphanet:353253|MESH:D002054|UMLS:C2930806|MedDRA:10068065|NCIT:C62545|DOID:4331|EFO:1000850|UMLS:CN242089|SCTID:399165002|UMLS:C0006430|GARD:0005974	mondo.json	BMS|Stomatopyrosis|stomatodynia|oral dysesthesia|Orodynia	http://purl.obolibrary.org/obo/MONDO_0006687	UMLS:C0006430|Orphanet:353253|http://identifiers.org/mesh/D002054|UMLS:C2930806|UMLS:CN242089|DOID:4331|http://identifiers.org/snomedct/399165002|NCIT:C62545	ordo_disease
MONDO:0004022	biolink:Disease	parasagittal meningioma	A meningioma that affects the superior sagittal sinus and invades the parasagittal angle.	UMLS:C0751304|NCIT:C4960|DOID:6869	mondo.json		http://purl.obolibrary.org/obo/MONDO_0004022	NCIT:C4960|DOID:6869|UMLS:C0751304	
HGNC:28984	biolink:NamedThing	WASHC5			mondo.json		http://identifiers.org/hgnc/28984		
MONDO:0004025	biolink:Disease	obsolete spinal cord embryonal tumor, not otherwise specified			mondo.json		http://purl.obolibrary.org/obo/MONDO_0004025		
MONDO:0006684	biolink:Disease	brain edema	Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see hypoxia, brain). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of csf flow (e.g., obstructive hydrocephalus). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)	EFO:1000845|ICD9:348.5|DOID:4724|MedDRA:10006121|MESH:D001929|SCTID:2032001	mondo.json	wet brain|intracranial swelling	http://purl.obolibrary.org/obo/MONDO_0006684	http://identifiers.org/snomedct/2032001|http://identifiers.org/mesh/D001929|DOID:4724	
MONDO:0006685	biolink:Disease	brain hypoxia - ischemia	A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ischemia) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ischemic attack, transient; brain infarction; brain edema; coma; and other conditions.	EFO:1000846|MESH:D020925	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006685	http://identifiers.org/mesh/D020925	
MONDO:0004024	biolink:Disease	spinal cord neuroblastoma	A neuroblastoma that affects the spinal cord.	NCIT:C5155|DOID:6871|UMLS:C1336046	mondo.json	spinal cord neuroblastoma|neuroblastoma of the spinal cord|neuroblastoma of spinal cord	http://purl.obolibrary.org/obo/MONDO_0004024	UMLS:C1336046|NCIT:C5155|DOID:6871	
HGNC:28986	biolink:NamedThing	ZNF592			mondo.json		http://identifiers.org/hgnc/28986		
MONDO:0006682	biolink:Disease	brachial plexus neuritis	An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm.	ICD9:723.4|MESH:D020968|EFO:1000843|NCIT:C84600|GARD:0004228|SCTID:26609002|MedDRA:10073002|DOID:3689|SCTID:72893007	mondo.json	acute brachial neuritis syndrome|brachial nerve plexus neuritis|idiopathic neuralgic amyotrophy|acute brachial neuritis|brachial neuritis|parsonage-Aldren-Turner syndrome|acute shoulder neuritis|acute brachial radiculitis syndrome|neuritis of brachial nerve plexus|parsonage Turner syndrome	http://purl.obolibrary.org/obo/MONDO_0006682	http://identifiers.org/snomedct/72893007|NCIT:C84600|http://identifiers.org/mesh/D020968|DOID:3689	gard_rare
MONDO:0006683	biolink:Disease	brachial plexus neuropathy	A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand.	ICD9:353.0|SCTID:3548001|EFO:1000844|NCIT:C27194|DOID:3690|UMLS:C0700251|MESH:D020516	mondo.json	brachial nerve plexus peripheral neuropathy|brachial plexus disorder|brachial plexopathy|peripheral neuropathy of brachial nerve plexus	http://purl.obolibrary.org/obo/MONDO_0006683	http://identifiers.org/snomedct/3548001|http://identifiers.org/mesh/D020516|UMLS:C0700251|NCIT:C27194|DOID:3690	
MONDO:0006680	biolink:Disease	blue nevus	An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative.	MedDRA:10062788|GARD:0008452|EFO:1000841|ICDO:8780/0|MESH:D018329|NCIT:C3803|SCTID:254806009	mondo.json	Jadassohn-TiC(che syndrome|Jadassohn-TiC(che nevus|Jadassohn-Tièche nevus|benign mesenchymal melanoma|blue skin Nevus|Tièche-Jadassohn nevus|blue nevus|blue Nevus of skin|blue Nevus of the skin|blue neuronevus|Jadassohn-Tièche syndrome	http://purl.obolibrary.org/obo/MONDO_0006680	NCIT:C3803|http://identifiers.org/snomedct/254806009|http://identifiers.org/mesh/D018329	gard_rare
MONDO:0004021	biolink:Disease	mediastinal malignant lymphoma	A lymphoma that arises from the mediastinum. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma.	NCIT:C6633|UMLS:C1334665|DOID:6868	mondo.json	lymphoma of the mediastinum|lymphoma of mediastinum|mediastinal malignant lymphoma|mediastinal lymphoma|mediastinum lymphoma|primary mediastinal lymphoma	http://purl.obolibrary.org/obo/MONDO_0004021	NCIT:C6633|UMLS:C1334665|DOID:6868	
MONDO:0004020	biolink:Disease	mediastinal gray zone lymphoma	A mediastinal lymphoma with molecular, morphologic, immunophenotypic, and clinical features of both mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma. The identification of this group of lymphomas, along with recent gene expression profiling results (PDL2 gene expression in both mediastinal (thymic) large B-cell lymphoma tissues and Hodgkin lymphoma cell lines), further supports the hypothesis that mediastinal (thymic) large B-cell lymphomas and classical Hodgkin lymphomas are related entities.	NCIT:C37870|UMLS:C1334657|DOID:6867	mondo.json	mediastinal Gray zone lymphoma|mediastinal B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma|mediastinal B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0004020	NCIT:C37870|UMLS:C1334657|DOID:6867	
MONDO:0006681	biolink:Disease	Borrelia infectious disease	Infections with bacteria of the genus borrelia.	EFO:1000842|MESH:D001899|UMLS:C0006035|MedDRA:10061591	mondo.json	Borrelia caused disease or disorder|Borrelia disease or disorder	http://purl.obolibrary.org/obo/MONDO_0006681	http://identifiers.org/mesh/D001899|UMLS:C0006035	
MONDO:0018657	biolink:Disease	pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome		Orphanet:447961|UMLS:CN237716|OMIM:618373	mondo.json	CAPOK|CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA	http://purl.obolibrary.org/obo/MONDO_0018657	UMLS:CN237716|Orphanet:447961|https://omim.org/entry/618373	ordo_disease
MONDO:0018656	biolink:Disease	tremor-ataxia-central hypomyelination syndrome		OMIM:607694|Orphanet:447896|UMLS:CN237714	mondo.json	TACH syndrome	http://purl.obolibrary.org/obo/MONDO_0018656	UMLS:CN237714|Orphanet:447896	ordo_disease
MONDO:0018659	biolink:Disease	partial duplication of the short arm of chromosome 19		Orphanet:447985	mondo.json	partial trisomy of chromosome 19p|partial trisomy of the short arm of chromosome 19|partial duplication of chromosome 19p|partial duplication of the short arm of chromosome type 19	http://purl.obolibrary.org/obo/MONDO_0018659	Orphanet:447985	ordo_group_of_disorders|disease_grouping
HGNC:14348	biolink:NamedThing	HTRA2			mondo.json		http://identifiers.org/hgnc/14348		
MONDO:0018658	biolink:Disease	19p13.3 microduplication syndrome	19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features.	UMLS:CN237720|Orphanet:447980	mondo.json	dup(19)(p13.13)	http://purl.obolibrary.org/obo/MONDO_0018658	UMLS:CN237720|Orphanet:447980	ordo_malformation_syndrome
MONDO:0018653	biolink:Disease	Polymerase proofreading-related adenomatous polyposis		Orphanet:447877|NCIT:C162484	mondo.json	PPAP|Polymerase proofreading-related adenomatous polyposis	http://purl.obolibrary.org/obo/MONDO_0018653	Orphanet:447877|NCIT:C162484	ordo_clinical_subtype
MONDO:0018652	biolink:Disease	obsolete biological anomaly without phenotypic characterization		Orphanet:447874	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018652	Orphanet:447874	ordo_group_of_disorders|disease_grouping
MONDO:0018655	biolink:Disease	hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome		Orphanet:447893|OMIM:607694|UMLS:CN237713	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018655	UMLS:CN237713|Orphanet:447893	ordo_disease
HGNC:14344	biolink:NamedThing	C1QTNF5			mondo.json		http://identifiers.org/hgnc/14344		
MONDO:0018654	biolink:Disease	idiopathic dropped head syndrome		Orphanet:447881|UMLS:CN237712	mondo.json	isolated neck extensor myopathy	http://purl.obolibrary.org/obo/MONDO_0018654	UMLS:CN237712|Orphanet:447881	ordo_clinical_syndrome
MONDO:0018651	biolink:Disease	obsolete lipoyl transferase 2 deficiency		Orphanet:447795	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018651	Orphanet:447795	ordo_biological_anomaly
MONDO:0018650	biolink:Disease	obsolete hemochromatosis type 5			mondo.json		http://purl.obolibrary.org/obo/MONDO_0018650		
HGNC:14341	biolink:NamedThing	EDARADD			mondo.json		http://identifiers.org/hgnc/14341		
HGNC:1618	biolink:NamedThing	CCT5			mondo.json		http://identifiers.org/hgnc/1618		
HGNC:28958	biolink:NamedThing	NUP93			mondo.json		http://identifiers.org/hgnc/28958		
GO:0008607	biolink:NamedThing	phosphorylase kinase regulator activity	Modulation of the activity of the enzyme phosphorylase kinase.		mondo.json	phosphorylase kinase, intrinsic regulator activity	http://purl.obolibrary.org/obo/GO_0008607		
CHEBI:48854	biolink:ChemicalSubstance	sulfurous acid			mondo.json	dihydroxidooxidosulfur|sulphurous acid|Sulfurous acid|Sulfite|sulfurous acid|H2SO3|S(O)(OH)2|[SO(OH)2]|acide sulfureux|schweflige Saeure|dihydrogen trioxosulfate|acido sulfuroso|trioxosulfuric acid	http://purl.obolibrary.org/obo/CHEBI_48854		
CHEBI:22221	biolink:ChemicalSubstance	acyl group	An organic group formed by removing one or more hydroxy groups from an oxoacid that has the general structure RkE(=O)l(OH)m (l =/= 0). Although the term is almost always applied to organic compounds, with carboxylic acid as the oxoacid, acyl groups can in principle be derived from other types of acids such as sulfonic acids or phosphonic acids.		mondo.json	acyl groups|alkanoyl|acyl group|groupe acyle|alkanoyl group	http://purl.obolibrary.org/obo/CHEBI_22221		
HGNC:28956	biolink:NamedThing	GPD1L			mondo.json		http://identifiers.org/hgnc/28956		
UBERON:0003449	biolink:AnatomicalEntity	tail intervertebral disc			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003449		
HGNC:28957	biolink:NamedThing	EMC1			mondo.json		http://identifiers.org/hgnc/28957		
GO:0045598	biolink:NamedThing	regulation of fat cell differentiation	Any process that modulates the frequency, rate or extent of adipocyte differentiation.		mondo.json	regulation of adipocyte differentiation|regulation of adipocyte cell differentiation	http://purl.obolibrary.org/obo/GO_0045598		
GO:0045599	biolink:NamedThing	negative regulation of fat cell differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of adipocyte differentiation.		mondo.json	negative regulation of adipocyte differentiation|downregulation of fat cell differentiation|down regulation of fat cell differentiation|inhibition of fat cell differentiation|down-regulation of fat cell differentiation|negative regulation of adipocyte cell differentiation	http://purl.obolibrary.org/obo/GO_0045599		
GO:0045596	biolink:NamedThing	negative regulation of cell differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of cell differentiation.		mondo.json	downregulation of cell differentiation|down regulation of cell differentiation|inhibition of cell differentiation|down-regulation of cell differentiation	http://purl.obolibrary.org/obo/GO_0045596		
GO:0045597	biolink:NamedThing	positive regulation of cell differentiation	Any process that activates or increases the frequency, rate or extent of cell differentiation.		mondo.json	stimulation of cell differentiation|up regulation of cell differentiation|up-regulation of cell differentiation|activation of cell differentiation|upregulation of cell differentiation	http://purl.obolibrary.org/obo/GO_0045597		
GO:0045595	biolink:NamedThing	regulation of cell differentiation	Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features.		mondo.json		http://purl.obolibrary.org/obo/GO_0045595		
NCIT:C125581	biolink:NamedThing	Pathology Result			mondo.json		http://purl.obolibrary.org/obo/NCIT_C125581		
UBERON:0003458	biolink:AnatomicalEntity	neck bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003458		
UBERON:0003459	biolink:AnatomicalEntity	chest bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003459		
UBERON:0003456	biolink:AnatomicalEntity	respiratory system lymphatic vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003456		
HGNC:16974	biolink:NamedThing	SRCAP			mondo.json		http://identifiers.org/hgnc/16974		
HGNC:14312	biolink:NamedThing	CRIPT			mondo.json		http://identifiers.org/hgnc/14312		
HGNC:16973	biolink:NamedThing	PPP1R17			mondo.json		http://identifiers.org/hgnc/16973		
UBERON:0003457	biolink:AnatomicalEntity	head bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003457		
UBERON:0003455	biolink:AnatomicalEntity	inner renal medulla loop of Henle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003455		
GO:0008614	biolink:NamedThing	pyridoxine metabolic process	The chemical reactions and pathways involving pyridoxine, 2-methyl-3-hydroxy-4,5-bis(hydroxymethyl)pyridine, one of the vitamin B6 compounds. Pyridoxal, pyridoxamine and pyridoxine are collectively known as vitamin B6, and are efficiently converted to the biologically active form of vitamin B6, pyridoxal phosphate.		mondo.json	pyridoxine metabolism	http://purl.obolibrary.org/obo/GO_0008614		
UBERON:0003438	biolink:AnatomicalEntity	iris nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003438		
UBERON:0003439	biolink:AnatomicalEntity	nerve of trunk region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003439		
GO:0008611	biolink:NamedThing	ether lipid biosynthetic process	The chemical reactions and pathways resulting in the formation of ether lipids, lipids that contain (normally) one lipid alcohol in ether linkage to one of the carbon atoms (normally C-1) of glycerol.		mondo.json	ether lipid anabolism|ether lipid synthesis|ether lipid biosynthesis|plasmalogen biosynthetic process|ether lipid formation	http://purl.obolibrary.org/obo/GO_0008611		
GO:0008610	biolink:NamedThing	lipid biosynthetic process	The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent.		mondo.json	lipid synthesis|lipid formation|lipid biosynthesis|lipogenesis|lipid anabolism	http://purl.obolibrary.org/obo/GO_0008610		
UBERON:0015420	biolink:AnatomicalEntity	ureteral valve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015420		
UBERON:0015423	biolink:AnatomicalEntity	hilar portion of hepatic duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015423		
HGNC:26300	biolink:NamedThing	ODAPH			mondo.json		http://identifiers.org/hgnc/26300		
UBERON:0003440	biolink:AnatomicalEntity	limb nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003440		
NCBITaxon:9443	biolink:OrganismalEntity	Primates		GC_ID:1	mondo.json	Primata|primates|primate	http://purl.obolibrary.org/obo/NCBITaxon_9443		
UBERON:0015418	biolink:AnatomicalEntity	urethra mesenchymal layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015418		
HGNC:1632	biolink:NamedThing	CD164			mondo.json		http://identifiers.org/hgnc/1632		
UBERON:0003447	biolink:AnatomicalEntity	digit nerve of manus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003447		
HGNC:1633	biolink:NamedThing	CD19			mondo.json		http://identifiers.org/hgnc/1633		
UBERON:0003448	biolink:AnatomicalEntity	manus nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003448		
UBERON:0003445	biolink:AnatomicalEntity	pes nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003445		
HGNC:1630	biolink:NamedThing	CD151			mondo.json		http://identifiers.org/hgnc/1630		
UBERON:0003446	biolink:AnatomicalEntity	ankle nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003446		
UBERON:0003443	biolink:AnatomicalEntity	thoracic cavity nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003443		
UBERON:0003444	biolink:AnatomicalEntity	pelvis nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003444		
UBERON:0003441	biolink:AnatomicalEntity	forelimb nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003441		
HGNC:16980	biolink:NamedThing	CFHR3			mondo.json		http://identifiers.org/hgnc/16980		
UBERON:0003442	biolink:AnatomicalEntity	hindlimb nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003442		
CL:0017502	biolink:Cell	acidophilic cytoplasm	Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain.		mondo.json	eosinophilic	http://purl.obolibrary.org/obo/CL_0017502		
CL:0017500	biolink:Cell	neutrophillic cytoplasm	Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain.		mondo.json		http://purl.obolibrary.org/obo/CL_0017500		
UBERON:0003429	biolink:AnatomicalEntity	abdomen nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003429		
CL:0017505	biolink:Cell	increased nucleus size	A nucleus size quality which is relatively high compared to the amount of cytoplasm present in the same cell.		mondo.json		http://purl.obolibrary.org/obo/CL_0017505		
CHEBI:24867	biolink:ChemicalSubstance	monoatomic ion			mondo.json	monoatomic ions	http://purl.obolibrary.org/obo/CHEBI_24867		
CHEBI:24866	biolink:ChemicalSubstance	salt	A salt is an assembly of cations and anions.		mondo.json	sal|salts|Salz|sales|sel|ionic compounds|salt|ionic compound|Salze|sels	http://purl.obolibrary.org/obo/CHEBI_24866		
CL:0017503	biolink:Cell	basophilic cytoplasm	Cytoplasm that exhibits molecular interaction for basic dyes under specific pH conditions.		mondo.json		http://purl.obolibrary.org/obo/CL_0017503		
UBERON:0003427	biolink:AnatomicalEntity	abdominal fat pad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003427		
CL:0017504	biolink:Cell	polychromatophilic cytoplasm	Cytoplasm that exhibits affinity for both basic and acid stains under specific pH conditions.		mondo.json		http://purl.obolibrary.org/obo/CL_0017504		
UBERON:0003428	biolink:AnatomicalEntity	gonadal fat pad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003428		
UBERON:0015410	biolink:AnatomicalEntity	heart plus pericardium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015410		
CHR:9606-chr9q2	biolink:NamedThing	9q2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr9q2		
CHR:9606-chr9q3	biolink:NamedThing	9q3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr9q3		
CHEBI:36841	biolink:ChemicalSubstance	11-hydroxy steroid			mondo.json	11-hydroxy steroids	http://purl.obolibrary.org/obo/CHEBI_36841		
HGNC:16950	biolink:NamedThing	STAMBP			mondo.json		http://identifiers.org/hgnc/16950		
UBERON:0003436	biolink:AnatomicalEntity	shoulder nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003436		
UBERON:0003437	biolink:AnatomicalEntity	eyelid nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003437		
HGNC:1641	biolink:NamedThing	CD209			mondo.json		http://identifiers.org/hgnc/1641		
UBERON:0003434	biolink:AnatomicalEntity	wrist nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003434		
CL:0017508	biolink:Cell	cartwheel heterochromatin	Heterochromatin that is arranged in a carthwheel pattern.		mondo.json		http://purl.obolibrary.org/obo/CL_0017508		
UBERON:0003435	biolink:AnatomicalEntity	pedal digit nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003435		
CHEBI:24868	biolink:ChemicalSubstance	organic salt			mondo.json	organisches Salz|organic salts	http://purl.obolibrary.org/obo/CHEBI_24868		
UBERON:0003432	biolink:AnatomicalEntity	chest nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003432		
HGNC:28929	biolink:NamedThing	KRT74			mondo.json		http://identifiers.org/hgnc/28929		
UBERON:0003433	biolink:AnatomicalEntity	arm nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003433		
UBERON:0003430	biolink:AnatomicalEntity	neck nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003430		
UBERON:0003431	biolink:AnatomicalEntity	leg nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003431		
CHEBI:24873	biolink:ChemicalSubstance	iron molecular entity			mondo.json	iron molecular entity|iron compounds|iron molecular entities	http://purl.obolibrary.org/obo/CHEBI_24873		
FOODON:03412972	biolink:NamedThing	food additive			mondo.json		http://purl.obolibrary.org/obo/FOODON_03412972		
HGNC:28949	biolink:NamedThing	IQCB1			mondo.json		http://identifiers.org/hgnc/28949		
UBERON:0003418	biolink:AnatomicalEntity	mesenchyme of submandibular gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003418		
UBERON:0003419	biolink:AnatomicalEntity	mesenchyme of parotid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003419		
CHR:9606-chr6pter-p24	biolink:NamedThing	6pter-p24 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr6pter-p24		
UBERON:0003416	biolink:AnatomicalEntity	mesenchyme of tongue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003416		
UBERON:0003417	biolink:AnatomicalEntity	mesenchyme of soft palate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003417		
CHEBI:24870	biolink:ChemicalSubstance	ion	A molecular entity having a net electric charge.		mondo.json	Ionen|ion|Ion|ions|iones	http://purl.obolibrary.org/obo/CHEBI_24870		
CHEBI:36856	biolink:ChemicalSubstance	hydrogen isocyanide			mondo.json	HN(+)#C(-)|nitriliomethanide|HNC|CNH|hydroisocyanic acid|hydrogen isocyanide	http://purl.obolibrary.org/obo/CHEBI_36856		
HGNC:14304	biolink:NamedThing	UNC45B			mondo.json		http://identifiers.org/hgnc/14304		
HGNC:16966	biolink:NamedThing	ZMYND11			mondo.json		http://identifiers.org/hgnc/16966		
UBERON:0003425	biolink:AnatomicalEntity	renal lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003425		
UBERON:0003426	biolink:AnatomicalEntity	dermis adipose tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003426		
UBERON:0003424	biolink:AnatomicalEntity	mesenchyme of hard palate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003424		
GO:0070563	biolink:NamedThing	negative regulation of vitamin D receptor signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of the vitamin D receptor signaling pathway activity.		mondo.json	down regulation of vitamin D receptor signaling pathway|negative regulation of VDR signaling pathway|inhibition of vitamin D receptor signaling pathway|down-regulation of vitamin D receptor signaling pathway|negative regulation vitamin D receptor signalling pathway|negative regulation of VDR signalling pathway|downregulation of vitamin D receptor signaling pathway	http://purl.obolibrary.org/obo/GO_0070563		
GO:0070564	biolink:NamedThing	positive regulation of vitamin D receptor signaling pathway	Any process that activates or increases the frequency, rate or extent of vitamin D receptor signaling pathway activity.		mondo.json	upregulation of vitamin D receptor signaling pathway|positive regulation of vitamin D receptor signalling pathway|stimulation of vitamin D receptor signaling pathway|up regulation of vitamin D receptor signaling pathway|up-regulation of vitamin D receptor signaling pathway|activation of vitamin D receptor signaling pathway|positive regulation of VDR signaling pathway	http://purl.obolibrary.org/obo/GO_0070564		
UBERON:0003422	biolink:AnatomicalEntity	mesenchyme of umbilical cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003422		
GO:0070561	biolink:NamedThing	vitamin D receptor signaling pathway	The series of molecular signals generated as a consequence of a vitamin D receptor binding to one of its physiological ligands.		mondo.json	VDR signaling pathway|vitamin D receptor signalling pathway|calcitriol signaling pathway	http://purl.obolibrary.org/obo/GO_0070561		
GO:0070562	biolink:NamedThing	regulation of vitamin D receptor signaling pathway	Any process that modulates the frequency, rate or extent of vitamin D receptor signaling pathway activity.		mondo.json	regulation of VDR signaling pathway|regulation of vitamin D receptor signalling pathway	http://purl.obolibrary.org/obo/GO_0070562		
UBERON:0003420	biolink:AnatomicalEntity	mesenchyme of sublingual gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003420		
MONDO:0006617	biolink:Disease	vesiculobullous skin disease	Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)	DOID:2731|UMLS:C0037275|EFO:1000774|MESH:D012872	mondo.json	dermatoses, bullous|dermatosis, subcorneal pustular|subcorneal pustular dermatoses|bullous skin diseases|skin disease, vesiculobullous|vesicular skin disease|skin diseases, vesicular|subcorneal pustular dermatosis|dermatoses, subcorneal pustular|vesiculobullous dermatoses|vesicular skin diseases|pustular dermatoses, subcorneal|bullous skin disease|Sneddon-Wilkinson disease|vesiculobullous skin disease|skin disease, bullous|skin diseases, bullous|pustular dermatosis, subcorneal|dermatoses, vesiculobullous|Sneddon Wilkinson disease|vesiculobullous skin diseases|skin disease, vesicular|bullous dermatoses	http://purl.obolibrary.org/obo/MONDO_0006617	UMLS:C0037275|http://identifiers.org/mesh/D012872|DOID:2731	
MONDO:0006618	biolink:Disease	vibratory urticaria	This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful.	ICD10CM:L50.4|SCTID:51247001|EFO:1000775|GARD:0009806|Wikipedia:Urticaria#Vibratory_angioedema|ICD9:708.4|UMLS:C0157743|DOID:1554	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006618	DOID:1554|http://identifiers.org/snomedct/51247001|UMLS:C0157743|http://purl.bioontology.org/ontology/ICD10CM/L50.4	
MONDO:0006615	biolink:Disease	sweat gland disorder	A disease involving the sweat gland.	ICD9:705.9|UMLS:C0038986|ICD9:705.89|MESH:D013543|DOID:1383|ICD9:705|EFO:1000772|SCTID:88232005	mondo.json	sweat gland disease|disease or disorder of sweat gland|disorder of sweat glands|sweat gland disease or disorder|disease of sweat gland|disease of sweat glands|disorder of sweat gland	http://purl.obolibrary.org/obo/MONDO_0006615	http://identifiers.org/mesh/D013543|UMLS:C0038986|http://identifiers.org/snomedct/88232005|DOID:1383	
UBERON:0015474	biolink:AnatomicalEntity	axilla skin			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015474		
MONDO:0006616	biolink:Disease	toxicodendron dermatitis	An allergic contact dermatitis caused by exposure to plants of the genus Toxicodendron (formerly Rhus). These include poison ivy, poison oak, and poison sumac, all plants that contain the substance urushiol, a potent skin sensitizing agent. (From Dorland, 27th ed)	UMLS:C0032342|DOID:3819|ICD9:692.6|EFO:1000773|MESH:D011040|SCTID:410049000	mondo.json	contact dermatitis due to genus Toxicodendron|Rhus dermatitis	http://purl.obolibrary.org/obo/MONDO_0006616	UMLS:C0032342|http://identifiers.org/mesh/D011040|DOID:3819|http://identifiers.org/snomedct/410049000	
MONDO:0006613	biolink:Disease	stromal corneal pigmentation	Stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium.	SCTID:55031000|UMLS:C0155105|EFO:1000770|DOID:12311|ICD9:371.12	mondo.json	stromal corneal pigmentations	http://purl.obolibrary.org/obo/MONDO_0006613	http://identifiers.org/snomedct/55031000|UMLS:C0155105|DOID:12311	
MONDO:0006614	biolink:Disease	subcorneal pustular dermatosis	A rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities.	UMLS:C0600336|Orphanet:48377|MESH:D012872|MedDRA:10042342|EFO:1000771|SCTID:25147002|DOID:8508|ICD9:694.1	mondo.json	subcorneal pustular dermatosis|subcorneal pustular dermatitis|pustulosis subcornealis|Sneddon-Wilkinson disease or syndrome|Sneddon-Wilkinson disease	http://purl.obolibrary.org/obo/MONDO_0006614	DOID:8508|http://identifiers.org/snomedct/25147002|UMLS:C0600336|Orphanet:48377	ordo_disease
MONDO:0006611	biolink:Disease	skin sarcoidosis	Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation.	EFO:1000767|DOID:13402|NCIT:C34996|SCTID:55941000|UMLS:C0036203|Wikipedia:Cutaneous_manifestations_of_sarcoidosis|ICD10CM:D86.3	mondo.json	sarcoidosis of zone of skin|cutaneous sarcoid|cutaneous sarcoidosis|zone of skin sarcoidosis	http://purl.obolibrary.org/obo/MONDO_0006611	http://purl.bioontology.org/ontology/ICD10CM/D86.3|NCIT:C34996|DOID:13402|UMLS:C0036203|http://identifiers.org/snomedct/55941000	
HGNC:28912	biolink:NamedThing	WDR45			mondo.json		http://identifiers.org/hgnc/28912		
MONDO:0006612	biolink:Disease	steroid lipomatosis	A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. It is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone.	DOID:3925|NCIT:C27487|UMLS:C1336506|EFO:1000769	mondo.json	steroid lipomatosis	http://purl.obolibrary.org/obo/MONDO_0006612	DOID:3925|NCIT:C27487|UMLS:C1336506	
MONDO:0006610	biolink:Disease	skin atrophy	The degeneration and thinning of the epidermis and dermis. It is usually a manifestation of aging.	EFO:1000766|NCIT:C35163|Wikipedia:Steroid_atrophy|DOID:2733|ICD9:701.8|SCTID:400190005|UMLS:C0151514	mondo.json	atrophy of skin|atrophic condition of skin|atrophic skin|atrophy - skin|atrophoderma	http://purl.obolibrary.org/obo/MONDO_0006610	NCIT:C35163|UMLS:C0151514|http://identifiers.org/snomedct/400190005|DOID:2733	
CHEBI:36828	biolink:ChemicalSubstance	pseudohalide anion			mondo.json	pseudohalide ions|pseudohalide anions|pseudohalogen anion|pseudohalogen ion|pseudohalides	http://purl.obolibrary.org/obo/CHEBI_36828		
UBERON:0015479	biolink:AnatomicalEntity	scrotum skin			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015479		
UBERON:0015476	biolink:AnatomicalEntity	nose skin			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015476		
CHEBI:36829	biolink:ChemicalSubstance	polyatomic monoanion			mondo.json	polyatomic monoanions	http://purl.obolibrary.org/obo/CHEBI_36829		
UBERON:0015477	biolink:AnatomicalEntity	axillary fat pad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015477		
MONDO:0018606	biolink:Disease	extensive peripapillary myelinated nerve fibers		Orphanet:440724|UMLS:CN237640	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018606	Orphanet:440724|UMLS:CN237640	ordo_disease
UBERON:0003494	biolink:AnatomicalEntity	respiratory system venule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003494		
CHEBI:36820	biolink:ChemicalSubstance	ring assembly	Two or more cyclic systems (single rings or fused systems) which are directly joined to each other by double or single bonds are named ring assemblies when the number of such direct ring junctions is one less than the number of cyclic systems involved.		mondo.json	ring assemblies|ring assembly	http://purl.obolibrary.org/obo/CHEBI_36820		
UBERON:0003495	biolink:AnatomicalEntity	respiratory system arteriole			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003495		
MONDO:0018605	biolink:Disease	disorders of pentose/polyol metabolism		Orphanet:440701|UMLS:CN237637	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018605	Orphanet:440701|UMLS:CN237637	disease_grouping|ordo_group_of_disorders
MONDO:0018608	biolink:Disease	pure autonomic failure	Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension.	SCTID:84438001|Orphanet:441|GARD:0010428|MESH:D054970|UMLS:CN205091|UMLS:C0393911|UMLS:C2931939	mondo.json	Pure idiopatic dysautonomia|Bradbury-Eggleston syndrome|Pure dysautonomia|orthostatic hypotension (a symptom)|idiopathic orthostatic hypotension (a symptom)|PAF|idiopathic orthostatic hypotension|Bradbury Eggleston syndrome	http://purl.obolibrary.org/obo/MONDO_0018608	UMLS:C2931939|UMLS:C0393911|http://identifiers.org/snomedct/84438001|Orphanet:441|http://identifiers.org/mesh/D054970|UMLS:CN205091	ordo_disease
MONDO:0018607	biolink:Disease	combined hamartoma of the retina and retinal pigment epithelium		Orphanet:440727|UMLS:CN237641|UMLS:C1862062	mondo.json	combined hamartoma of the retina and RPE|CHR-RPE	http://purl.obolibrary.org/obo/MONDO_0018607	UMLS:C1862062|Orphanet:440727|UMLS:CN237641	ordo_disease
MONDO:0018602	biolink:Disease	necrotizing soft tissue infection		Orphanet:440368|ICD9:729.99|UMLS:CN237632|UMLS:C2732890|SCTID:443928008|ICD9:136.9|ICD10CM:M72.6	mondo.json	NSTI	http://purl.obolibrary.org/obo/MONDO_0018602	UMLS:C2732890|Orphanet:440368|UMLS:CN237632|http://identifiers.org/snomedct/443928008	ordo_disease
MONDO:0018601	biolink:Disease	autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome		Orphanet:440354|UMLS:CN237631	mondo.json		http://purl.obolibrary.org/obo/MONDO_0018601	Orphanet:440354|UMLS:CN237631	ordo_malformation_syndrome
MONDO:0018604	biolink:Disease	familial colorectal cancer type X	Hereditary nonpolyposis colorectal cancer characterized by the absence of germline mutations in DNA mismatch-repair genes.	NCIT:C120084|Orphanet:440437|UMLS:CN237636|UMLS:C3896578	mondo.json	FCCTX|familial colorectal cancer type X	http://purl.obolibrary.org/obo/MONDO_0018604	NCIT:C120084|Orphanet:440437|UMLS:CN237636|UMLS:C3896578	ordo_disease
OBO:ECTO_8000035	biolink:NamedThing	exposure to anthropogenic modulatory intervention process	A exposure event involving the interaction of an exposure receptor to anthropogenic modulatory intervention process.		mondo.json	anthropogenic modulatory intervention process exposure	http://purl.obolibrary.org/obo/ECTO_8000035		
MONDO:0018603	biolink:Disease	interstitial lung disease due to SP-C deficiency		OMIM:610913|UMLS:CN237633|Orphanet:440392	mondo.json	interstitial lung disease due to surfactant protein C deficiency	http://purl.obolibrary.org/obo/MONDO_0018603	Orphanet:440392|UMLS:CN237633	ordo_disease
HGNC:1665	biolink:NamedThing	SCARB2			mondo.json		http://identifiers.org/hgnc/1665		
MONDO:0018600	biolink:Disease	congenital abducens nerve palsy		Orphanet:440233	mondo.json	benign congenital sixth cranial nerve palsy|congenital CNVI palsy	http://purl.obolibrary.org/obo/MONDO_0018600	Orphanet:440233	ordo_disease
HGNC:1663	biolink:NamedThing	CD36			mondo.json		http://identifiers.org/hgnc/1663		
UBERON:0003498	biolink:AnatomicalEntity	heart blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003498		
UBERON:0003499	biolink:AnatomicalEntity	brain blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003499		
HGNC:28908	biolink:NamedThing	DNAJC12			mondo.json		http://identifiers.org/hgnc/28908		
MONDO:0006608	biolink:Disease	seborrheic dermatitis	A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching.	MESH:D012628|NCIT:C111888|ICD9:706.3|ICD9:690.1|DOID:8741|EFO:1000764|UMLS:C0036508|HP:0001051|ICD9:690.10	mondo.json	seborrheic eczema|Seborrhoeic eczema|seborrheic dermatitis (disease)|seborrheic dermatitis|seborrhea|cradle Cap|skin seborrheic|Seborrhoeic dermatitis	http://purl.obolibrary.org/obo/MONDO_0006608	DOID:8741|NCIT:C111888|http://identifiers.org/mesh/D012628|UMLS:C0036508	
UBERON:0003496	biolink:AnatomicalEntity	head blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003496		
HGNC:28909	biolink:NamedThing	CCDC22			mondo.json		http://identifiers.org/hgnc/28909		
MONDO:0006609	biolink:Disease	seborrheic infantile dermatitis	Excessive shedding of dry scaly material from the scalp in humans.	ICD9:690.11|DOID:8941|EFO:1000765|ICD10CM:L21.0|SCTID:400201008	mondo.json	scalp seborrheic dermatitis (disease)|seborrhea capitis|infantile seborrheic dermatitis|Seborrhoea capitis|seborrheic dermatitis (disease) of scalp|Seborrhoeic eczema of scalp|pityriasis capitis|complement 5 dysfunction|Seborrhoeic dermatitis of scalp|seborrhea sicca|infantile seborrhoeic dermatitis|generalized seborrheic dermatitis of infants|cradle cap	http://purl.obolibrary.org/obo/MONDO_0006609	http://purl.bioontology.org/ontology/ICD10CM/L21.0|DOID:8941	
UBERON:0003497	biolink:AnatomicalEntity	abdomen blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003497		
MONDO:0006628	biolink:Disease	obsolete Sezary disease			mondo.json	obsolete Sezary's disease	http://purl.obolibrary.org/obo/MONDO_0006628		
MONDO:0006629	biolink:Disease	osteoarthritis, hip	Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion.	NCIT:C34876|UMLS:C0029410|EFO:1000786|MESH:D015207	mondo.json	hip osteoarthritis	http://purl.obolibrary.org/obo/MONDO_0006629	http://identifiers.org/mesh/D015207|NCIT:C34876	
HGNC:28927	biolink:NamedThing	KRT71			mondo.json		http://identifiers.org/hgnc/28927		
MONDO:0006626	biolink:Disease	diabetic neuropathy	A chronic, pathological complication associated with diabetes mellitus, where nerve damages are incurred due to diabetic microvascular injury involving small blood vessels that supply these nerves, resulting in peripheral and/or autonomic nerve dysfunction.	EFO:1000783|SCTID:230572002|DOID:9743|UMLS:C0011882|ICD9:250.6|MESH:D003929|NCIT:C26748	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006626	http://identifiers.org/mesh/D003929|UMLS:C0011882|http://identifiers.org/snomedct/230572002|DOID:9743|NCIT:C26748	
MONDO:0006627	biolink:Disease	obsolete microscopic polyangiitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006627		
MONDO:0006624	biolink:Disease	overactive bladder	Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present.	ICD9:596.51|SCTID:236633002|EFO:1000781|MESH:D053201|HP:0000012|MedDRA:10020853	mondo.json	overactive bladder (disease)|overactive bladder	http://purl.obolibrary.org/obo/MONDO_0006624	http://identifiers.org/snomedct/236633002|http://identifiers.org/mesh/D053201	
MONDO:0006625	biolink:Disease	altitude sickness	Multiple symptoms associated with reduced oxygen at high altitude.	EFO:1000782|MESH:D000532|Wikipedia:Altitude_sickness	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006625	http://identifiers.org/mesh/D000532	
MONDO:0006622	biolink:Disease	vulvar seborrheic keratosis	A benign squamous neoplasm that arises from the vulva. It is characterized by the proliferation of the basal cells in the squamous epithelium, acanthosis, hyperkeratosis, and cysts formation.	NCIT:C6375|DOID:6944|UMLS:C1336981|EFO:1000779	mondo.json	mammalian vulva seborrheic keratosis|seborrheic keratosis of the vulva|seborrheic keratosis of vulva|seborrheic keratosis of mammalian vulva	http://purl.obolibrary.org/obo/MONDO_0006622	DOID:6944|NCIT:C6375|UMLS:C1336981	
MONDO:0006623	biolink:Disease	obsolete autoimmune pancreatitis type 1			mondo.json		http://purl.obolibrary.org/obo/MONDO_0006623		
MONDO:0006620	biolink:Disease	vulva fibroepithelial polyp	A polypoid lesion that arises from the vulva and is characterized by the presence of fibrovascular stroma lined by squamous epithelium. There is no evidence of epithelial atypia.	NCIT:C6857|DOID:8255|UMLS:C1336978|EFO:1000777	mondo.json	vulvar fibroepithelial stromal polyp|skin tag of mammalian vulva|mammalian vulva skin tag|vulval fibroepithelial polyp|vulvar fibroepithelial polyp|fibroepithelial polyp of the vulva|fibroepithelial polyp of vulva	http://purl.obolibrary.org/obo/MONDO_0006620	NCIT:C6857|DOID:8255|UMLS:C1336978	
MONDO:0006621	biolink:Disease	vulvar inverted follicular keratosis	Seborrheic keratosis that arises from follicular structures in the vulva. It is characterized by the presence of prominent squamous eddies.	NCIT:C40291|DOID:6943|UMLS:C1520084|EFO:1000778	mondo.json	mammalian vulva inverted follicular keratosis|inverted follicular keratosis of mammalian vulva	http://purl.obolibrary.org/obo/MONDO_0006621	NCIT:C40291|DOID:6943|UMLS:C1520084	
HGNC:16947	biolink:NamedThing	ERLIN1			mondo.json		http://identifiers.org/hgnc/16947		
CHEBI:36830	biolink:ChemicalSubstance	monoanion			mondo.json	monoanions	http://purl.obolibrary.org/obo/CHEBI_36830		
UBERON:0003483	biolink:AnatomicalEntity	thymus lymphoid tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003483		
UBERON:0003484	biolink:AnatomicalEntity	eye sebaceous gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003484		
UBERON:0003481	biolink:AnatomicalEntity	tail vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003481		
UBERON:0003480	biolink:AnatomicalEntity	vein of clitoris			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003480		
HGNC:1677	biolink:NamedThing	CD247			mondo.json		http://identifiers.org/hgnc/1677		
UBERON:0003489	biolink:AnatomicalEntity	respiratory system capillary endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003489		
HGNC:1674	biolink:NamedThing	CD3E			mondo.json		http://identifiers.org/hgnc/1674		
GO:0070588	biolink:NamedThing	calcium ion transmembrane transport	A process in which a calcium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore.		mondo.json	calcium ion membrane transport|transmembrane calcium transport	http://purl.obolibrary.org/obo/GO_0070588		
HGNC:16940	biolink:NamedThing	DGAT2			mondo.json		http://identifiers.org/hgnc/16940		
HGNC:1675	biolink:NamedThing	CD3G			mondo.json		http://identifiers.org/hgnc/1675		
UBERON:0003487	biolink:AnatomicalEntity	skin sebaceous gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003487		
UBERON:0003488	biolink:AnatomicalEntity	abdominal mammary gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003488		
HGNC:1673	biolink:NamedThing	CD3D			mondo.json		http://identifiers.org/hgnc/1673		
MONDO:0006619	biolink:Disease	viral exanthem	A virus-induced exanthem	SCTID:49882001|EFO:1000776|ICD9:057.9|DOID:8672|ICD9:057.8|UMLS:C0153062	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006619	UMLS:C0153062|DOID:8672|http://identifiers.org/snomedct/49882001	
UBERON:0003485	biolink:AnatomicalEntity	vagina sebaceous gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003485		
HGNC:1678	biolink:NamedThing	CD4			mondo.json		http://identifiers.org/hgnc/1678		
UBERON:0015458	biolink:AnatomicalEntity	mediastinal fat pad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015458		
UBERON:0015454	biolink:AnatomicalEntity	pancreatic fat pad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015454		
UBERON:0015453	biolink:AnatomicalEntity	subcutaneous lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0015453		
UBERON:0003472	biolink:AnatomicalEntity	cerebellar artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003472		
UBERON:0003473	biolink:AnatomicalEntity	thoracic cavity artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003473		
NCBITaxon:43075	biolink:OrganismalEntity	Trichomonas tenax		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_43075		
UBERON:0003470	biolink:AnatomicalEntity	artery of upper lip			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003470		
UBERON:0003471	biolink:AnatomicalEntity	artery of lower lip			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003471		
HGNC:16915	biolink:NamedThing	HAX1			mondo.json		http://identifiers.org/hgnc/16915		
HGNC:16912	biolink:NamedThing	EMG1			mondo.json		http://identifiers.org/hgnc/16912		
OBO:ECTO_8000017	biolink:NamedThing	exposure to atmospheric process	A exposure event involving the interaction of an exposure receptor to atmospheric process.		mondo.json	atmospheric process exposure	http://purl.obolibrary.org/obo/ECTO_8000017		
OBO:ECTO_9001793	biolink:NamedThing	exposure to anaesthetic	An exposure to anaesthetic.		mondo.json	exposure to anaesthetic	http://purl.obolibrary.org/obo/ECTO_9001793		
UBERON:0003478	biolink:AnatomicalEntity	vein of lower lip			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003478		
UBERON:0003479	biolink:AnatomicalEntity	thoracic cavity vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003479		
UBERON:0003476	biolink:AnatomicalEntity	respiratory system venous blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003476		
UBERON:0003477	biolink:AnatomicalEntity	vein of upper lip			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003477		
UBERON:0003474	biolink:AnatomicalEntity	meningeal artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003474		
UBERON:0003475	biolink:AnatomicalEntity	ureteric vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003475		
MONDO:0006606	biolink:Disease	scleredema adultorum	A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis.	NCIT:C85057|SCTID:95323007|EFO:1000762|UMLS:C0036413|Orphanet:352763|DOID:3140|GARD:0005975|MESH:D012592	mondo.json	Buschke's scleredema|scleredema Diabeticorum of Buschke|Buschkes scleredema|Buschke scleredema|scleredema Diabeticorums|scleredema Diabeticorum|scleredema, Buschke's|Buschke scleredema Diabeticorum|Buschke scleredema adultorum|scleredemas|scleredema|scleredema adultorum of Buschke|Diabeticorum, scleredema|scleredema adultorum|Diabeticorums, scleredema	http://purl.obolibrary.org/obo/MONDO_0006606	Orphanet:352763|http://identifiers.org/mesh/D012592|DOID:3140|UMLS:C0036413|NCIT:C85057|http://identifiers.org/snomedct/95323007	ordo_disease
MONDO:0006607	biolink:Disease	sebaceous gland disorder	A disease involving the sebaceous gland.	MESH:D012625|UMLS:C0036502|SCTID:3441005|EFO:1000763|ICD9:706.1|DOID:9098	mondo.json	disease or disorder of sebaceous gland|disease of sebaceous glands|disease of sebaceous gland|sebaceous gland disease or disorder|disorder of sebaceous gland|sebaceous gland disease	http://purl.obolibrary.org/obo/MONDO_0006607	DOID:9098|http://identifiers.org/snomedct/3441005|http://identifiers.org/mesh/D012625|UMLS:C0036502	
MONDO:0006604	biolink:Disease	rosacea	A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids.	MESH:D012393|ICD9:695.3|ICD10CM:L71|NCIT:C97136|UMLS:C0035854|EFO:1000760|SCTID:398909004|Wikipedia:Rosacea|DOID:8881	mondo.json	acne roscea|acne, erythematosa|acne rosacea	http://purl.obolibrary.org/obo/MONDO_0006604	UMLS:C0035854|DOID:8881|http://identifiers.org/snomedct/398909004|http://identifiers.org/mesh/D012393|http://purl.bioontology.org/ontology/ICD10CM/L71|NCIT:C97136	
MONDO:0006605	biolink:Disease	scalp dermatosis	Dermotosis of scalp	DOID:3136|EFO:1000761|SCTID:402694007|UMLS:C0036271|MESH:D012536	mondo.json	dermatosis of scalp	http://purl.obolibrary.org/obo/MONDO_0006605	http://identifiers.org/snomedct/402694007|DOID:3136|http://identifiers.org/mesh/D012536|UMLS:C0036271	
MONDO:0006602	biolink:Disease	porokeratosis	A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella.	EFO:1000757|DOID:3805|HP:0200044|UMLS:C0162839|Wikipedia:Porokeratosis|MESH:D017499|SCTID:400080004|ICD9:692.75|ICD9:757.39|OMIMPS:175800|Orphanet:79358|MedDRA:10036175|NCIT:C85019	mondo.json	porokeratosis|porokeratosis (disease)	http://purl.obolibrary.org/obo/MONDO_0006602	http://identifiers.org/mesh/D017499|UMLS:C0162839|https://omim.org/phenotypicSeries/PS175800|Orphanet:79358|NCIT:C85019|DOID:3805|http://identifiers.org/snomedct/400080004	ordo_group_of_disorders|disease_grouping
CHEBI:24834	biolink:ChemicalSubstance	inorganic anion			mondo.json	inorganic anions	http://purl.obolibrary.org/obo/CHEBI_24834		
MONDO:0006603	biolink:Disease	reactive cutaneous fibrous lesion	A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing.	DOID:2053|EFO:1000759|NCIT:C27549|UMLS:C1335666	mondo.json		http://purl.obolibrary.org/obo/MONDO_0006603	UMLS:C1335666|DOID:2053|NCIT:C27549	
CHEBI:24833	biolink:ChemicalSubstance	oxoacid	A compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons).		mondo.json	oxy-acids|oxoacid|oxo acid|oxiacids|oxyacids|oxoacids|oxacids	http://purl.obolibrary.org/obo/CHEBI_24833		
HGNC:28900	biolink:NamedThing	PNPLA8			mondo.json		http://identifiers.org/hgnc/28900		
MONDO:0006600	biolink:Disease	obsolete pigmentation disease		SCTID:414032001	mondo.json	disorder of pigmentation	http://purl.obolibrary.org/obo/MONDO_0006600	http://identifiers.org/snomedct/414032001	
HGNC:1689	biolink:NamedThing	CD59			mondo.json		http://identifiers.org/hgnc/1689		
MONDO:0006601	biolink:Disease	pityriasis rosea	A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated.	SCTID:77252004|EFO:1000756|UMLS:C0032026|DOID:8892|NCIT:C26855|MESH:D017515|Wikipedia:Pityriasis_rosea|ICD10CM:L42|ICD9:696.3	mondo.json	Pityriasis circinata|Pityriasis rosea	http://purl.obolibrary.org/obo/MONDO_0006601	http://identifiers.org/mesh/D017515|http://identifiers.org/snomedct/77252004|UMLS:C0032026|NCIT:C26855|DOID:8892|http://purl.bioontology.org/ontology/ICD10CM/L42	
OBO:ECTO_8000000	biolink:NamedThing	exposure to environmental process	A exposure event involving the interaction of an exposure receptor to environmental system process.		mondo.json	environmental system process exposure	http://purl.obolibrary.org/obo/ECTO_8000000		
UBERON:0003461	biolink:AnatomicalEntity	shoulder bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003461		
UBERON:0003462	biolink:AnatomicalEntity	facial bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003462		
UBERON:0003460	biolink:AnatomicalEntity	arm bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003460		
UBERON:0003469	biolink:AnatomicalEntity	respiratory system artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003469		
HGNC:1698	biolink:NamedThing	CD79A			mondo.json		http://identifiers.org/hgnc/1698		
HGNC:1699	biolink:NamedThing	CD79B			mondo.json		http://identifiers.org/hgnc/1699		
CHEBI:24836	biolink:ChemicalSubstance	inorganic oxide			mondo.json	inorganic oxides	http://purl.obolibrary.org/obo/CHEBI_24836		
CHEBI:24835	biolink:ChemicalSubstance	inorganic molecular entity	A molecular entity that contains no carbon.		mondo.json	inorganic molecular entities|anorganische Verbindungen|inorganic compounds|inorganic entity|inorganics	http://purl.obolibrary.org/obo/CHEBI_24835		
UBERON:0003468	biolink:AnatomicalEntity	ureteric segment of renal artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003468		
UBERON:0003466	biolink:AnatomicalEntity	forelimb zeugopod bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003466		
UBERON:0003463	biolink:AnatomicalEntity	trunk bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003463		
UBERON:0003464	biolink:AnatomicalEntity	hindlimb bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0003464		
CHEBI:24839	biolink:ChemicalSubstance	inorganic salt			mondo.json	anorganisches Salz|inorganic salts	http://purl.obolibrary.org/obo/CHEBI_24839		
MONDO:0001642	biolink:Disease	hordeolum externum	A hordeolum that results from obstruction and infection of an eyelash follicle and adjacent glands of Zeis or Moll glands. Follicle obstruction may be associated with blepharitis.	SCTID:1489008|ICD9:373.11|UMLS:C0019919|DOID:13134	mondo.json	external stye	http://purl.obolibrary.org/obo/MONDO_0001642	http://identifiers.org/snomedct/1489008|DOID:13134|UMLS:C0019919	
MONDO:0001641	biolink:Disease	severe pre-eclampsia	Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances.	ICD9:642.50|DOID:13129|NCIT:C112843	mondo.json	Preeclampsia with severe features|severe preeclampsia|severe pre-eclampsia, with delivery|antepartum severe pre-eclampsia|postpartum severe pre-eclampsia	http://purl.obolibrary.org/obo/MONDO_0001641	DOID:13129|NCIT:C112843	
UBERON:0022248	biolink:AnatomicalEntity	cerebral nerve fasciculus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0022248		
MONDO:0001640	biolink:Disease	gonococcal spondylitis	An spondylitis caused by infection with Neisseria gonorrhoeae.	ICD9:098.53|SCTID:53664003|UMLS:C0153219|DOID:13127	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001640	DOID:13127|http://identifiers.org/snomedct/53664003|UMLS:C0153219	
CHEBI:25213	biolink:ChemicalSubstance	metal cation			mondo.json	metal cations|a metal cation	http://purl.obolibrary.org/obo/CHEBI_25213		
CHEBI:25212	biolink:ChemicalSubstance	metabolite	Any intermediate or product resulting from metabolism. The term 'metabolite' subsumes the classes commonly known as primary and secondary metabolites.		mondo.json	secondary metabolites|metabolite|primary metabolites|metabolites	http://purl.obolibrary.org/obo/CHEBI_25212		
MONDO:0001646	biolink:Disease	benign secondary hypertension	Mild to moderate high blood pressure that is caused by an underlying medical condition.	DOID:13143|UMLS:C0155620|ICD9:405.19|ICD9:405.1|SCTID:194785008	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001646	DOID:13143|UMLS:C0155620|http://identifiers.org/snomedct/194785008	
MONDO:0001645	biolink:Disease	crescentic glomerulonephritis	A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months.	NCIT:C35444|HP:0008653|SCTID:236398000|ICD9:580.4|DOID:13139	mondo.json	crescentic glomerulonephritis|crescentic glomerulonephritis (disease)	http://purl.obolibrary.org/obo/MONDO_0001645	NCIT:C35444|http://identifiers.org/snomedct/236398000|DOID:13139	
UBERON:0010260	biolink:AnatomicalEntity	umbilical blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010260		
MONDO:0001644	biolink:Disease	acute proliferative glomerulonephritis	Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus.	NCIT:C35443|UMLS:C0341692|UMLS:C0403414|ICD9:580.0|SCTID:197579006|DOID:13138	mondo.json	proliferative glomerulonephritis, acute|acute glomerulonephritis with lesion of proliferative glomerulonephritis|post-streptococcal glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0001644	NCIT:C35443|DOID:13138|http://identifiers.org/snomedct/197579006|UMLS:C0341692	
MONDO:0001643	biolink:Disease	exophthalmic ophthalmoplegia		SCTID:69763009|DOID:13135|ICD9:376.22|UMLS:C0152135	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001643	DOID:13135|http://identifiers.org/snomedct/69763009|UMLS:C0152135	
CHEBI:25216	biolink:ChemicalSubstance	metalloporphyrin			mondo.json	metalloporphyrins|metaloporphyrins	http://purl.obolibrary.org/obo/CHEBI_25216		
MONDO:0013628	biolink:Disease	hyperphosphatasia with intellectual disability syndrome 3	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene.	OMIM:614207|UMLS:C3280153	mondo.json	mental retardation, autosomal recessive 17|PGAP2 hyperphosphatasia-intellectual disability syndrome|intellectual disability, autosomal recessive 21|hyperphosphatasia with intellectual disability syndrome 3|hyperphosphatasia with mental retardation syndrome 3|mental retardation, autosomal recessive 21|hyperphosphatasia with intellectual disability syndrome type 3|glycosylphosphatidylinositol biosynthesis defect 8|intellectual disability, autosomal recessive 17|HPMRS3|hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP2|hyperphosphatasia with mental retardation syndrome type 3	http://purl.obolibrary.org/obo/MONDO_0013628	https://omim.org/entry/614207|UMLS:C3280153	
MONDO:0013629	biolink:Disease	intellectual disability, autosomal recessive 16		OMIM:614208|UMLS:C3280154	mondo.json	mental retardation, autosomal recessive 16|MRT16|intellectual disability, autosomal recessive 16	http://purl.obolibrary.org/obo/MONDO_0013629	https://omim.org/entry/614208|UMLS:C3280154	
MONDO:0013626	biolink:Disease	psoriasis 14, pustular	Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene.	Orphanet:163931|SCTID:238612002|Orphanet:247353|OMIM:616106|ICD9:696.1|DOID:0080474|NCIT:C119057|OMIM:614204|GARD:0012819|UMLS:CN226196|SCTID:83839005|UMLS:CN199965|Orphanet:404546	mondo.json	familial generalized pustular psoriasis|PSORP|GPP|acrodermatitis continua of Hallopeau|deficiency of the interleukin-36 receptor antagonist|acrodermatitis continua suppurativa of Hallopeau|Interleukin 36 receptor antagonist deficiency|generalized pustular psoriasis|palmoplantar pustulosis|IL36RN psoriasis|psoriasis 14, pustular|PSORS14|psoriasis caused by mutation in IL36RN|deficiency of IL-36Ra|DITRA|deficiency of IL-36R antagonist	http://purl.obolibrary.org/obo/MONDO_0013626	UMLS:CN226196|DOID:0080474|Orphanet:163931|https://omim.org/entry/614204|Orphanet:247353|Orphanet:404546|http://identifiers.org/snomedct/83839005|UMLS:CN199965|NCIT:C119057	ordo_disease
CHEBI:76807	biolink:ChemicalSubstance	EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor	An EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor that interferes with the action of any non-peptide linear amide C-N hydrolase (EC 3.5.1.*).		mondo.json	EC 3.5.1.* inhibitors|EC 3.5.1.* inhibitor|EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitors|non-peptide linear amide C-N hydrolase (EC 3.5.1.*) inhibitors|non-peptide linear amide C-N hydrolase (EC 3.5.1.*) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76807		
MONDO:0013627	biolink:Disease	3M syndrome 3	Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene.	UMLS:C3280146|OMIM:614205	mondo.json	3M syndrome 3|three M syndrome type 3|CCDC8 3-M syndrome|3M3|three M syndrome 3|3-M syndrome 3|3-M syndrome caused by mutation in CCDC8	http://purl.obolibrary.org/obo/MONDO_0013627	https://omim.org/entry/614205|UMLS:C3280146	
HP:0010442	biolink:PhenotypicFeature	Polydactyly	A congenital anomaly characterized by the presence of supernumerary fingers or toes.	Fyler:4103|UMLS:C0152427|MSH:D017689|SNOMEDCT_US:367506006	mondo.json	More than five fingers or toes on hands or feet	http://purl.obolibrary.org/obo/HP_0010442		
MONDO:0013631	biolink:Disease	lung cancer susceptibility 5		UMLS:C3280156|OMIM:614210	mondo.json	lung cancer susceptibility 5|LNCR5	http://purl.obolibrary.org/obo/MONDO_0013631	https://omim.org/entry/614210|UMLS:C3280156	
MONDO:0013632	biolink:Disease	autosomal dominant nonsyndromic hearing loss 33	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 13q34.	OMIM:614211|DOID:0110562	mondo.json	autosomal dominant deafness 33|autosomal dominant nonsyndromic deafness type 33|autosomal dominant nonsyndromic deafness 33|deafness, autosomal dominant 33|DFNA33	http://purl.obolibrary.org/obo/MONDO_0013632	DOID:0110562|https://omim.org/entry/614211	
HGNC:5147	biolink:NamedThing	HPD			mondo.json		http://identifiers.org/hgnc/5147		
UBERON:0010258	biolink:AnatomicalEntity	mesenchyme from rhombencephalic neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010258		
MONDO:0013630	biolink:Disease	Meckel syndrome, type 9	Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene.	UMLS:C3280155|OMIM:614209	mondo.json	MKS9|B9D1 Meckel syndrome|meckel syndrome 9|Meckel syndrome, type 9|Meckel syndrome caused by mutation in B9D1	http://purl.obolibrary.org/obo/MONDO_0013630	https://omim.org/entry/614209|UMLS:C3280155	
UBERON:0010259	biolink:AnatomicalEntity	1st arch mesenchyme from neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010259		
MONDO:0013635	biolink:Disease	Adams-Oliver syndrome 2	Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene.	OMIM:614219|UMLS:C3280182	mondo.json	DOCK6 Adams-Oliver syndrome|Adams-Oliver syndrome caused by mutation in DOCK6|AOS2|Adams-Oliver syndrome type 2|Adams-Oliver syndrome 2	http://purl.obolibrary.org/obo/MONDO_0013635	UMLS:C3280182|https://omim.org/entry/614219	
MONDO:0013636	biolink:Disease	primary biliary cholangitis 4		UMLS:C3280201|OMIM:614220	mondo.json	PBC4|biliary cirrhosis, primary, 4	http://purl.obolibrary.org/obo/MONDO_0013636	https://omim.org/entry/614220|UMLS:C3280201	
MONDO:0013633	biolink:Disease	encephalopathy, acute, infection-induced, susceptibility to, 4	Any encephalopathy, acute, infection-induced in which the cause of the disease is a mutation in the CPT2 gene.	OMIM:614212	mondo.json	encephalopathy, acute, infection-induced caused by mutation in CPT2|CPT2 encephalopathy, acute, infection-induced|encephalopathy, acute, infection-induced, susceptibility to, type 4|encephalopathy, acute, infection-induced, susceptibility to, 4|encephalopathy, acute, infection-induced, 4, susceptibility to|IIAE4	http://purl.obolibrary.org/obo/MONDO_0013633	https://omim.org/entry/614212	predisposition
MONDO:0013634	biolink:Disease	neuropathy, hereditary sensory, type 2C	Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene.	DOID:0070147|UMLS:C3280168|OMIM:614213	mondo.json	hereditary sensory neuropathy type 2C|KIF1A hereditary sensory and autonomic neuropathy type 2|neuropathy, hereditary sensory, type IIC|HSN2C|hereditary sensory and autonomic neuropathy type 2 caused by mutation in KIF1A|hereditary sensory neuropathy type IIC	http://purl.obolibrary.org/obo/MONDO_0013634	https://omim.org/entry/614213|UMLS:C3280168|DOID:0070147	
MONDO:0001639	biolink:Disease	deficiency anemia		DOID:13121|ICD9:281.8|UMLS:C0041782|SCTID:267513007|ICD9:281.9	mondo.json	deficiency anemias|unspecified deficiency anemia	http://purl.obolibrary.org/obo/MONDO_0001639	http://identifiers.org/snomedct/267513007|DOID:13121|UMLS:C0041782	
MONDO:0001638	biolink:Disease	protein-deficiency anemia		ICD9:281.4|UMLS:C0154290|DOID:13120|ICD10CM:D53.0|SCTID:191156009	mondo.json	anemia due to protein deficiency	http://purl.obolibrary.org/obo/MONDO_0001638	http://identifiers.org/snomedct/191156009|http://purl.bioontology.org/ontology/ICD10CM/D53.0|DOID:13120|UMLS:C0154290	
MONDO:0001637	biolink:Disease	cicatricial entropion		SCTID:67383002|UMLS:C0155191|ICD9:374.04|DOID:13113	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001637	DOID:13113|UMLS:C0155191|http://identifiers.org/snomedct/67383002	
MONDO:0001636	biolink:Disease	mechanical entropion		DOID:13112|UMLS:C0155189|ICD9:374.02|SCTID:38683003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001636	http://identifiers.org/snomedct/38683003|DOID:13112|UMLS:C0155189	
HGNC:5141	biolink:NamedThing	HP			mondo.json		http://identifiers.org/hgnc/5141		
HGNC:5144	biolink:NamedThing	HPCA			mondo.json		http://identifiers.org/hgnc/5144		
GO:1990636	biolink:NamedThing	reproductive senescence	A life cycle stage during which the reproductive capacity and fitness of an organism declines.		mondo.json	ovarian senescence	http://purl.obolibrary.org/obo/GO_1990636		
MONDO:0001653	biolink:Disease	prepuce cancer	A malignant neoplasm involving the prepuce.	DOID:13168|ICD9:187.1|UMLS:C0153598|SCTID:363450006	mondo.json	malignant neoplasm of foreskin|cancer of prepuce|prepuce cancer|malignant prepuce neoplasm|malignant tumor of foreskin|malignant neoplasm of prepuce	http://purl.obolibrary.org/obo/MONDO_0001653	DOID:13168|http://identifiers.org/snomedct/363450006|UMLS:C0153598	
MONDO:0001652	biolink:Disease	scrotum melanoma	A melanoma (disease) that involves the scrotum.	DOID:13160|NCIT:C7361|UMLS:C1331544	mondo.json	melanoma (disease) of scrotum|scrotum melanoma (disease)|melanoma of the scrotum|melanoma of scrotum|scrotal melanoma	http://purl.obolibrary.org/obo/MONDO_0001652	UMLS:C1331544|DOID:13160|NCIT:C7361	
MONDO:0001651	biolink:Disease	scrotum squamous cell carcinoma	A rare squamous cell carcinoma that arises from the scrotum. It has been associated with exposure to environmental and industrial carcinogens. The prognosis depends on the extent of lymph node involvement.	SCTID:276860003|DOID:13159|UMLS:C0349551|NCIT:C4643	mondo.json	squamous cell carcinoma of scrotum|scrotum squamous cell carcinoma|scrotal squamous cell carcinoma|squamous cell carcinoma of the scrotum	http://purl.obolibrary.org/obo/MONDO_0001651	http://identifiers.org/snomedct/276860003|DOID:13159|UMLS:C0349551|NCIT:C4643	
MONDO:0001650	biolink:Disease	acute cystitis	An acute infection of the bladder. It is usually caused by bacteria. Signs and symptoms include increased frequency of urination, pain or burning during urination, fever, cloudy or bloody urine, and suprapubic pain.	ICD10CM:N30.0|UMLS:C0149523|DOID:13148|SCTID:68226007|NCIT:C26934|ICD9:595.0	mondo.json	acute cystitis (disease)|cystitis, acute|acute cystitis	http://purl.obolibrary.org/obo/MONDO_0001650	http://purl.bioontology.org/ontology/ICD10CM/N30.0|DOID:13148|UMLS:C0149523|NCIT:C26934|http://identifiers.org/snomedct/68226007	
MONDO:0001657	biolink:Disease	brain cancer	A primary or metastatic malignant neoplasm affecting the brain.	ICD9:191|SCTID:428061005|NCIT:C4952|ICD9:191.8|GARD:0009307|CSP:2006-2736|ICD9:239.6|DOID:1319|MESH:D001932|ICD9:191.9|NCIT:C3568	mondo.json	neoplasm of unspecified nature of brain|cancer of the brain|malignant primary brain neoplasm|adult malignant brain neoplasm|brain neoplasm, adult|malignant primary brain tumor|malignant tumor of adult brain|malignant brain tumour|brain neoplasms, malignant|malignant neoplasm of brain|malignant tumor of brain|brain tumor, adult|primary malignant neoplasm of brain|malignant neoplasm of the brain|malignant brain neoplasm|BT - brain tumour|brain neoplasm|malignant brain tumor|primary brain neoplasm|adult brain tumor|brain cancer|tumor of the brain|primary brain tumor|cancer of brain|malignant tumor of the brain	http://purl.obolibrary.org/obo/MONDO_0001657	http://identifiers.org/mesh/D001932|DOID:1319|NCIT:C3568|http://identifiers.org/snomedct/428061005	
MONDO:0001656	biolink:Disease	megaesophagus	An abnormal dilation of the esophagus not due to obstruction.	NCIT:C34811|UMLS:C0025164|SCTID:70667005|DOID:13186	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001656	UMLS:C0025164|DOID:13186|NCIT:C34811|http://identifiers.org/snomedct/70667005	
MONDO:0001655	biolink:Disease	dissociated nystagmus		DOID:13174|ICD9:379.55|UMLS:C0155380|SCTID:9520006|ICD10CM:H55.04	mondo.json	dissociated nystagmus	http://purl.obolibrary.org/obo/MONDO_0001655	DOID:13174|http://purl.bioontology.org/ontology/ICD10CM/H55.04|http://identifiers.org/snomedct/9520006|UMLS:C0155380	
MONDO:0001654	biolink:Disease	spermatic cord cancer	A malignant neoplasm involving the spermatic cord.	ICD9:187.6|DOID:13169|NCIT:C3559|UMLS:C0153603|SCTID:363453008	mondo.json	malignant neoplasm of the spermatic cord|malignant spermatic cord neoplasm|malignant spermatic cord tumor|cancer of spermatic cord|malignant tumor of the spermatic cord|malignant tumor of spermatic cord|spermatic cord cancer|spermatic cord Ca|malignant neoplasm of spermatic cord	http://purl.obolibrary.org/obo/MONDO_0001654	http://identifiers.org/snomedct/363453008|DOID:13169|UMLS:C0153603|NCIT:C3559	
CHEBI:76815	biolink:ChemicalSubstance	EC 2.7.7.* (nucleotidyltransferase) inhibitor	An EC 2.7.* (P-containing group transferase) inhibitor that interferes with the action of any nucleotidyltransferase (EC 2.7.7.*).		mondo.json	inhibitors of nucleotidyltransferases (EC 2.7.7.*)|inhibitors of nucleotidyltransferases|inhibitor of nucleotidyltransferases|nucleotidyltransferase (EC 2.7.7.*) inhibitor|nucleotidyltransferase inhibitor|nucleotidyltransferase inhibitors|EC 2.7.7.* (nucleotidyltransferase) inhibitors|nucleotidyltransferase (EC 2.7.7.*) inhibitors|inhibitor of nucleotidyltransferases (EC 2.7.7.*)	http://purl.obolibrary.org/obo/CHEBI_76815		
MONDO:0013617	biolink:Disease	obsolete overgrowth-macrocephaly-facial dysmorphism syndrome		OMIM:614192	mondo.json		http://purl.obolibrary.org/obo/MONDO_0013617	https://omim.org/entry/614192	
UBERON:0010252	biolink:AnatomicalEntity	1st arch mandibular mesenchyme from neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010252		
MONDO:0013618	biolink:Disease	craniofacial anomalies and anterior segment dysgenesis syndrome		OMIM:614195|UMLS:C3280099	mondo.json	CAASDS|craniofacial anomalies and anterior segment dysgenesis syndrome	http://purl.obolibrary.org/obo/MONDO_0013618	https://omim.org/entry/614195|UMLS:C3280099	
UBERON:0010253	biolink:AnatomicalEntity	1st arch maxillary mesenchyme from neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010253		
MONDO:0013615	biolink:Disease	craniosynostosis and dental anomalies		Orphanet:284149|UMLS:C3280073|OMIM:614188	mondo.json	Kreiborg-Pakistani syndrome|CRSDA|craniosynostosis and dental anomalies|craniosynostosis-dental anomalies	http://purl.obolibrary.org/obo/MONDO_0013615	Orphanet:284149|https://omim.org/entry/614188|UMLS:C3280073	ordo_malformation_syndrome
MONDO:0013616	biolink:Disease	pigmented nodular adrenocortical disease, primary, 3	Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene.	OMIM:614190|UMLS:C3280094	mondo.json	pigmented nodular adrenocortical disease, primary, 3|Cushing syndrome, adrenal, due to PPNAD3|primary pigmented nodular adrenocortical disease caused by mutation in PDE8B|PDE8B primary pigmented nodular adrenocortical disease|pigmented nodular adrenocortical disease, primary, type 3|PPNAD3	http://purl.obolibrary.org/obo/MONDO_0013616	UMLS:C3280094|https://omim.org/entry/614190	
UBERON:0010256	biolink:AnatomicalEntity	4th arch mesenchyme from neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010256		
UBERON:0010257	biolink:AnatomicalEntity	6th arch mesenchyme from neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010257		
MONDO:0013619	biolink:Disease	nephrotic syndrome, type 6	Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene.	OMIM:614196|UMLS:C3280100|DOID:0080384	mondo.json	NPHS6|nephrotic syndrome, type 6|PTPRO nephrotic syndrome|nephrotic syndrome caused by mutation in PTPRO	http://purl.obolibrary.org/obo/MONDO_0013619	DOID:0080384|https://omim.org/entry/614196|UMLS:C3280100	
UBERON:0010254	biolink:AnatomicalEntity	2nd arch mesenchyme from neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010254		
UBERON:0010255	biolink:AnatomicalEntity	3rd arch mesenchyme from neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010255		
MONDO:0013620	biolink:Disease	congenital myasthenic syndrome 16	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene.	DOID:0110682|OMIM:614198	mondo.json	congenital myasthenic syndrome caused by mutation in SCN4A|SCN4A congenital myasthenic syndrome|myasthenic syndrome, congenital, Acetazolamide-responsive|congenital myasthenic syndrome acetazolamide-responsive|myasthenic syndrome, congenital, type 16|congenital myasthenic syndrome type 16|CMS16|myasthenic syndrome, congenital, 16	http://purl.obolibrary.org/obo/MONDO_0013620	https://omim.org/entry/614198|DOID:0110682	
HGNC:5157	biolink:NamedThing	HPRT1			mondo.json		http://identifiers.org/hgnc/5157		
MONDO:0013621	biolink:Disease	LAMB2-related infantile-onset nephrotic syndrome	LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal.	Orphanet:306507|UMLS:C3280113|OMIM:614199	mondo.json	NPHS5|nephrotic syndrome, type 5, with or without ocular abnormalities	http://purl.obolibrary.org/obo/MONDO_0013621	https://omim.org/entry/614199|UMLS:C3280113|Orphanet:306507	ordo_disease
MONDO:0013624	biolink:Disease	Rafiq syndrome	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene.	OMIM:614202|UMLS:C3280127	mondo.json	autosomal recessive non-syndromic intellectual disability caused by mutation in MAN1B1|intellectual disability, autosomal recessive 15|mental retardation, autosomal recessive 15|mental retardation, autosomal recessive type 15|MAN1B1 autosomal recessive non-syndromic intellectual disability|MRT15|CDG2U|RAFQS	http://purl.obolibrary.org/obo/MONDO_0013624	https://omim.org/entry/614202|UMLS:C3280127	
MONDO:0013625	biolink:Disease	Parkinson disease 17	Any Parkinson disease in which the cause of the disease is a mutation in the VPS35 gene.	UMLS:C3280133|DOID:0060897|OMIM:614203	mondo.json	PARK17|Parkinson disease type 17|Parkinson disease caused by mutation in VPS35|Parkinson's disease 17|Parkinson disease 17|autosomal dominant Parkinson disease 17|VPS35 Parkinson disease	http://purl.obolibrary.org/obo/MONDO_0013625	UMLS:C3280133|https://omim.org/entry/614203|DOID:0060897	
MONDO:0013622	biolink:Disease	platelet-type bleeding disorder 9	Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene.	MESH:C566000|Orphanet:98886|DOID:0111045|OMIM:614200	mondo.json	inherited bleeding disorder, platelet-type caused by mutation in ITGA2|GP Ia deficiency|collagen platelet receptor deficiency|BDPLT9|ITGA2 inherited bleeding disorder, platelet-type|glycoprotein Ia deficiency|bleeding diathesis due to integrin alpha2-beta1 deficiency|bleeding disorder, platelet-type, 9	http://purl.obolibrary.org/obo/MONDO_0013622	http://identifiers.org/mesh/C566000|DOID:0111045|Orphanet:98886|https://omim.org/entry/614200	ordo_etiological_subtype
MONDO:0013623	biolink:Disease	platelet-type bleeding disorder 11	Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene.	Orphanet:98885|SCTID:765977002|DOID:0111057|GARD:0013293|OMIM:614201|UMLS:C3280120	mondo.json	platelet-type bleeding disorder-11|GP VI deficiency|BDPLT11|inherited bleeding disorder, platelet-type caused by mutation in GP6|bleeding disorder, platelet-type, 11|glycoprotein VI deficiency|bleeding diathesis due to glycoprotein VI deficiency|GP6 inherited bleeding disorder, platelet-type|glycoprotein 6 deficiency|platelet-type bleeding disorder 11|GP 6 deficiency	http://purl.obolibrary.org/obo/MONDO_0013623	DOID:0111057|Orphanet:98885|https://omim.org/entry/614201|UMLS:C3280120|http://identifiers.org/snomedct/765977002	ordo_etiological_subtype
MONDO:0001649	biolink:Disease	fungal esophagitis	Infection of the esophagus caused by fungi, most often candida albicans and candida tropicalis. It usually affects patients with immunodeficiency disorders or diabetes mellitus. Symptoms include dysphagia and pain on swallowing.	NCIT:C27107|SCTID:235602008|ICD9:117.9|UMLS:C0341109|DOID:13147	mondo.json	fungal esophagitis	http://purl.obolibrary.org/obo/MONDO_0001649	http://identifiers.org/snomedct/235602008|DOID:13147|UMLS:C0341109|NCIT:C27107	
MONDO:0001648	biolink:Disease	esophageal candidiasis	Esophagitis resulting from Candida.	ICD10CM:B37.81|ICD9:112.84|NCIT:C27027|UMLS:C0239295|SCTID:20639004|DOID:13146	mondo.json	esophageal thrush|candidal esophagitis|esophageal moniliasis|candidiasis of the esophagus|Candida esophagitis	http://purl.obolibrary.org/obo/MONDO_0001648	http://identifiers.org/snomedct/20639004|http://purl.bioontology.org/ontology/ICD10CM/B37.81|DOID:13146|NCIT:C27027|UMLS:C0239295	
MONDO:0001647	biolink:Disease	benign renovascular hypertension		ICD9:405.11|DOID:13145	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001647	DOID:13145	
HGNC:5154	biolink:NamedThing	HPGD			mondo.json		http://identifiers.org/hgnc/5154		
MONDO:0001620	biolink:Disease	louse-borne relapsing fever	An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated.	ICD10CM:A68.0|NCIT:C128426|ICD9:087.0|UMLS:C0152061|SCTID:14683004|DOID:13035	mondo.json	Relapsing fever, louse-borne	http://purl.obolibrary.org/obo/MONDO_0001620	http://identifiers.org/snomedct/14683004|http://purl.bioontology.org/ontology/ICD10CM/A68.0|DOID:13035|NCIT:C128426|UMLS:C0152061	
CHEBI:76823	biolink:ChemicalSubstance	EC 6.3.1.* (acid-ammonia/amine ligase) inhibitor	An EC 6.3.* (C-N bond-forming ligase) inhibitor that interferes with the action of any acid-ammonia (or amine) ligase (EC 6.3.1.*).		mondo.json	EC 6.3.1.* (acid-ammonia/amine ligase) inhibitors|acid-ammonia (or amine) ligase inhibitors|EC 6.3.1.* inhibitor|EC 6.3.1.* inhibitors|acid-ammonia (or amine) ligase inhibitor	http://purl.obolibrary.org/obo/CHEBI_76823		
MONDO:0001624	biolink:Disease	acute sphenoidal sinusitis	Acute form of sphenoid sinusitis.	ICD9:461.3|DOID:13046|SCTID:77919000|ICD10CM:J01.3|UMLS:C0155807	mondo.json	sphenoidal sinus -acute|sphenoid sinusitis, acute|acute sphenoid sinusitis	http://purl.obolibrary.org/obo/MONDO_0001624	DOID:13046|http://identifiers.org/snomedct/77919000|http://purl.bioontology.org/ontology/ICD10CM/J01.3|UMLS:C0155807	
MONDO:0001623	biolink:Disease	cicatricial lagophthalmos		ICD10CM:H02.21|UMLS:C0155199|HP:0030004|ICD9:374.23|DOID:13038	mondo.json	cicatricial lagophthalmos|cicatricial lagophthalmos (disease)	http://purl.obolibrary.org/obo/MONDO_0001623	DOID:13038|http://purl.bioontology.org/ontology/ICD10CM/H02.21|UMLS:C0155199	
MONDO:0001622	biolink:Disease	mechanical lagophthalmos		SCTID:21783006|ICD9:374.22|ICD10CM:H02.22|UMLS:C0155198|DOID:13037	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001622	DOID:13037|http://purl.bioontology.org/ontology/ICD10CM/H02.22|UMLS:C0155198|http://identifiers.org/snomedct/21783006	
MONDO:0001621	biolink:Disease	tick-borne relapsing fever	An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated.	ICD10CM:A68.1|NCIT:C34976|ICD9:087.1|SCTID:10301003|UMLS:C0035022|DOID:13036	mondo.json	Relapsing fever, tick-borne	http://purl.obolibrary.org/obo/MONDO_0001621	http://purl.bioontology.org/ontology/ICD10CM/A68.1|DOID:13036|NCIT:C34976|UMLS:C0035022|http://identifiers.org/snomedct/10301003	
MONDO:0013606	biolink:Disease	Hermansky-Pudlak syndrome 9	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene.	ICD10CM:E70.3|DOID:0060547|UMLS:C3280026|Orphanet:280663|OMIM:614171	mondo.json	Hermansky-Pudlak syndrome type 9|Hermansky-Pudlak syndrome caused by mutation in BLOC1S6|Hermansky-Pudlak syndrome 9|HPS9|BLOC1S6 Hermansky-Pudlak syndrome	http://purl.obolibrary.org/obo/MONDO_0013606	Orphanet:280663|https://omim.org/entry/614171|UMLS:C3280026|DOID:0060547	ordo_clinical_subtype
MONDO:0013607	biolink:Disease	monocytopenia with susceptibility to infections		GARD:0010934|OMIM:614172|Orphanet:228423|UMLS:C3280030	mondo.json	monocyte-B-natural killer-dendritic cell deficiency syndrome|combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections|immunodeficiency type 21|immunodeficiency 21|monocytopenia with susceptibility to mycobacterial, fungal, and Papillomavirus infections and myelodysplasia|Dendritic cell, monocyte, B and NK lymphoid deficiency|monocytopenia and mycobacterial infection syndrome|DCML|GATA2 deficiency|combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections|monocyte - B - natural killer - dendritic cell deficiency|MonoMAC|Dendritic cell, monocyte, B lymphocyte, and natural Killer lymphocyte deficiency|IMD21	http://purl.obolibrary.org/obo/MONDO_0013607	Orphanet:228423|https://omim.org/entry/614172|UMLS:C3280030	ordo_disease|predisposition
MONDO:0013604	biolink:Disease	myopia 21, autosomal dominant	Any myopia (disease) in which the cause of the disease is a mutation in the ZNF644 gene.	UMLS:C3279997|OMIM:614167	mondo.json	ZNF644 myopia (disease)|MYP21|myopia (disease) caused by mutation in ZNF644|myopia 21, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0013604	UMLS:C3279997|https://omim.org/entry/614167	
MONDO:0013605	biolink:Disease	brittle cornea syndrome 2	Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene.	OMIM:614170|UMLS:C3280011	mondo.json	brittle cornea syndrome type 2|PRDM5 brittle cornea syndrome|brittle cornea syndrome 2|brittle cornea syndrome caused by mutation in PRDM5|BCS2	http://purl.obolibrary.org/obo/MONDO_0013605	https://omim.org/entry/614170|UMLS:C3280011	
NCBITaxon:119225	biolink:OrganismalEntity	Protomacleaya		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_119225		
MONDO:0013608	biolink:Disease	Joubert syndrome 13	Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene.	UMLS:C3280031|DOID:0110982|OMIM:614173	mondo.json	Joubert syndrome 13|JBTS13|TCTN1 Joubert syndrome|Joubert syndrome type 13|Joubert syndrome caused by mutation in TCTN1	http://purl.obolibrary.org/obo/MONDO_0013608	DOID:0110982|https://omim.org/entry/614173|UMLS:C3280031	
UBERON:0010243	biolink:AnatomicalEntity	merocrine gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010243		
MONDO:0013609	biolink:Disease	Meckel syndrome, type 10	Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene.	OMIM:614175|UMLS:CN620433|GTR:AN1012610|UMLS:C3280036|GTR:AN1012156	mondo.json	meckel syndrome 10|B9D2 Meckel syndrome|Meckel syndrome, type 10|MKS10|Meckel syndrome caused by mutation in B9D2|JBTS34|Joubert syndrome 34	http://purl.obolibrary.org/obo/MONDO_0013609	UMLS:CN620433|https://omim.org/entry/614175|UMLS:C3280036	
MONDO:0013610	biolink:Disease	retinitis pigmentosa 61	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene.	DOID:0110373|ICD10CM:H35.5|UMLS:C3280041|OMIM:614180	mondo.json	retinitis pigmentosa caused by mutation in CLRN1|retinitis pigmentosa 61|RP61|retinitis pigmentosa type 61|CLRN1 retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0013610	DOID:0110373|https://omim.org/entry/614180|UMLS:C3280041	
MONDO:0013613	biolink:Disease	Leber congenital amaurosis 16	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene.	UMLS:C3280062|GARD:0010885|DOID:0110118|ICD10CM:H35.5|OMIM:614186	mondo.json	Leber congenital amaurosis 16|KCNJ13 Leber congenital amaurosis|Leber congenital amaurosis caused by mutation in KCNJ13|LCA16|Leber congenital amaurosis type 16	http://purl.obolibrary.org/obo/MONDO_0013613	DOID:0110118|https://omim.org/entry/614186|UMLS:C3280062	gard_rare
MONDO:0013614	biolink:Disease	hypertelorism-preauricular sinus-punctual pits-deafness syndrome		Orphanet:293958|OMIM:614187|UMLS:C3280065	mondo.json	hypertelorism, preauricular sinus, punctal pits, and deafness|HPPD|hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome	http://purl.obolibrary.org/obo/MONDO_0013614	UMLS:C3280065|https://omim.org/entry/614187|Orphanet:293958	ordo_malformation_syndrome
MONDO:0013611	biolink:Disease	retinitis pigmentosa 62	Any retinitis pigmentosa in which the cause of the disease is a mutation in the MAK gene.	DOID:0110380|ICD10CM:H35.5|UMLS:C3280042|OMIM:614181	mondo.json	retinitis pigmentosa caused by mutation in MAK|retinitis pigmentosa type 62|MAK retinitis pigmentosa|retinitis pigmentosa 62|RP62	http://purl.obolibrary.org/obo/MONDO_0013611	DOID:0110380|https://omim.org/entry/614181|UMLS:C3280042	
MONDO:0013612	biolink:Disease	geleophysic dysplasia 2	Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene.	DOID:0111726|UMLS:C3280054|OMIM:614185	mondo.json	GPHYSD2|FBN1 geleophysic dysplasia|geleophysic dysplasia caused by mutation in FBN1|Geleophysic dysplasia type 2|GELEOPHYSIC dysplasia 2|Geleophysic dysplasia 2	http://purl.obolibrary.org/obo/MONDO_0013612	DOID:0111726|UMLS:C3280054|https://omim.org/entry/614185	
MONDO:0001617	biolink:Disease	transient global amnesia	A condition characterized by sudden, temporary, usually short-lived memory loss, not associated with a neurologic disorder. Affected individuals lose memory function for recent events and have a decreased ability to retain new information. It is usually a solitary event.	ICD9:437.7|DOID:13027|MESH:D020236|NCIT:C85198|HP:0010534|ICD10CM:G45.4|GARD:0008172	mondo.json	transient global amnesia|transient global amnesia (disease)	http://purl.obolibrary.org/obo/MONDO_0001617	http://identifiers.org/mesh/D020236|http://purl.bioontology.org/ontology/ICD10CM/G45.4|DOID:13027|NCIT:C85198	
MONDO:0001616	biolink:Disease	lobomycosis	A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol.	MESH:D060368|ICD10CM:B48.0|DOID:13026|UMLS:C0152066|SCTID:47306003|EFO:1001805|ICD9:116.2	mondo.json	cutaneous blastomycosis|infection by Loboa loboi|cutaneous lobomycosis	http://purl.obolibrary.org/obo/MONDO_0001616	UMLS:C0152066|http://purl.bioontology.org/ontology/ICD10CM/B48.0|http://identifiers.org/mesh/D060368|http://identifiers.org/snomedct/47306003|DOID:13026	
MONDO:0001615	biolink:Disease	epidemic keratoconjunctivitis	Keratoconjunctivitis resulting from infection by adenoviruses.	NCIT:C34590|DOID:13014|SCTID:60548004|ICD9:077.1|UMLS:C0014493	mondo.json	EKC|shipyard eye	http://purl.obolibrary.org/obo/MONDO_0001615	UMLS:C0014493|http://identifiers.org/snomedct/60548004|NCIT:C34590|DOID:13014	
UBERON:0022276	biolink:AnatomicalEntity	splenic flexure of colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0022276		
MONDO:0001614	biolink:Disease	intra-abdominal lymph node mast cell malignancy		DOID:13005|ICD9:202.63|SCTID:188664008|UMLS:C0153844	mondo.json	mast cell malignancy of intra-abdominal lymph nodes|malignant mast cell tumors involving intra-abdominal lymph nodes	http://purl.obolibrary.org/obo/MONDO_0001614	UMLS:C0153844|http://identifiers.org/snomedct/188664008|DOID:13005	
UBERON:0022275	biolink:AnatomicalEntity	colic flexure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0022275		
HGNC:5163	biolink:NamedThing	HPS1			mondo.json		http://identifiers.org/hgnc/5163		
UBERON:0022278	biolink:AnatomicalEntity	nucleus of pudendal nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0022278		
UBERON:0022277	biolink:AnatomicalEntity	hepatic flexure of colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0022277		
HGNC:5166	biolink:NamedThing	HPV18I1			mondo.json		http://identifiers.org/hgnc/5166		
MONDO:0001619	biolink:Disease	obsolete relapsing fever			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001619		
MONDO:0001618	biolink:Disease	balanoposthitis		SCTID:46090001|UMLS:C0004691|ICD10CM:N47.6|DOID:13031|ICD9:607.1	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001618	UMLS:C0004691|DOID:13031|http://purl.bioontology.org/ontology/ICD10CM/N47.6|http://identifiers.org/snomedct/46090001	
HGNC:5167	biolink:NamedThing	HPV18I2			mondo.json		http://identifiers.org/hgnc/5167		
UBERON:0022279	biolink:AnatomicalEntity	strand of hair on external ear			mondo.json		http://purl.obolibrary.org/obo/UBERON_0022279		
MONDO:0001631	biolink:Disease	vertebral artery insufficiency	A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction.	NCIT:C35123|ICD9:435.1|DOID:13095|MESH:D014715|UMLS:C0042560|SCTID:34781003	mondo.json	vertebral artery syndrome	http://purl.obolibrary.org/obo/MONDO_0001631	NCIT:C35123|UMLS:C0042560|DOID:13095|http://identifiers.org/snomedct/34781003	
MONDO:0001630	biolink:Disease	branch retinal artery occlusion	An occlusion of a branch of the retinal artery.	UMLS:C0006123|DOID:13094|ICD9:362.32|NCIT:C34436|SCTID:50821009	mondo.json	retinal arterial branch occlusion|arterial retinal branch occlusion	http://purl.obolibrary.org/obo/MONDO_0001630	NCIT:C34436|http://identifiers.org/snomedct/50821009|DOID:13094|UMLS:C0006123	
CHEBI:76835	biolink:ChemicalSubstance	EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor) inhibitor	An EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitor that uses NAD(+) or NADP(+) as acceptor (EC 1.1.1.*).		mondo.json	oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor (EC 1.1.1.*) inhibitors|EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+)acceptor) inhibitors|EC 1.1.1.* inhibitor|EC 1.1.1.* inhibitors|oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor (EC 1.1.1.*) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76835		
CHEBI:27869	biolink:ChemicalSubstance	chloroacetic acid	A chlorocarboxylic acid that is acetic acid carrying a 2-chloro substituent.		mondo.json	monochloroacetic acid|alpha-chloro-acetic acid|chloracetic acid|Acide monochloracetique|Acide chloroacetique|2-chloro-acetic acid|Chloroethanoic acid|CAA|2-chloroacetic acid|monochloroethanoic acid|Chloroacetic acid|chloroacetic acid|Monochloressigsaeure|2-chloro-ethanoic acid|Acide chloracetique	http://purl.obolibrary.org/obo/CHEBI_27869		
MONDO:0001635	biolink:Disease	bladder squamous papilloma	A rare, benign neoplasm of bladder that is composed of papillary cores with overlying histologically benign squamous epithelium.	NCIT:C39834|DOID:13110|UMLS:C1511199	mondo.json	bladder squamous papilloma	http://purl.obolibrary.org/obo/MONDO_0001635	UMLS:C1511199|DOID:13110|NCIT:C39834	
CHEBI:76838	biolink:ChemicalSubstance	EC 1.14.14.* (oxidoreductase acting on paired donors, incorporating of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitor	An EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor that interferes with the action of any such enzyme incorporating one atom of oxygen and using reduced flavin or flavoprotein as donor (EC 1.14.14.*).		mondo.json	EC 1.14.14.* inhibitors|EC 1.14.14.* (oxidoreductase acting on paired donors, incorporating of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitors|EC 1.14.14.* inhibitor|oxidoreductase acting on paired donors, with incorporation of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor (EC 1.14.14.*) inhibitors|EC 1.14.14.* (oxidoreductase acting on paired donors, with incorporation of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitors|oxidoreductase acting on paired donors, with incorporation of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor (EC 1.14.14.*) inhibitor|EC 1.14.14.* (oxidoreductase acting on paired donors, with incorporation of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76838		
MONDO:0001634	biolink:Disease	bladder leiomyoma	A well-circumscribed benign smooth muscle neoplasm arising from the bladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOID:13109|UMLS:C1332560|NCIT:C6178	mondo.json	leiomyoma of the urinary bladder|leiomyoma of the bladder|leiomyoma of bladder|bladder leiomyoma|leiomyoma of urinary bladder|urinary bladder leiomyoma	http://purl.obolibrary.org/obo/MONDO_0001634	UMLS:C1332560|DOID:13109|NCIT:C6178	
MONDO:0001633	biolink:Disease	central retinal artery occlusion	Blockage of the central retinal artery.	SCTID:38742007|UMLS:C0007688|DOID:13098|NCIT:C34456|ICD9:362.31|ICD10CM:H34.1	mondo.json	central retinal arterial occlusion	http://purl.obolibrary.org/obo/MONDO_0001633	NCIT:C34456|DOID:13098|http://identifiers.org/snomedct/38742007|UMLS:C0007688|http://purl.bioontology.org/ontology/ICD10CM/H34.1	
MONDO:0001632	biolink:Disease	intracranial arteriosclerosis	Vascular diseases characterized by thickening and hardening of the walls of arteries inside the skull. There are three subtypes: (1) atherosclerosis with fatty deposits in the arterial intima; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include headache; confusion; transient blindness (amaurosis fugax); speech impairment; and hemiparesis.	UMLS:C0007771|DOID:13097|MESH:D002537	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001632	http://identifiers.org/mesh/D002537|DOID:13097|UMLS:C0007771	
CHEBI:76837	biolink:ChemicalSubstance	EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 O atoms) inhibitor	An EC 1.13.* [oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases)] inhibitor that inhibits the action of any oxidoreductase incorporating 2 atoms of oxygen (EC 1.13.11.*).		mondo.json	EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 O atoms) inhibitors|EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 atoms of oxygen) inhibitor|oxidoreductase acting on single donors and incorporating 2 atoms of oxygen (EC 1.13.11.*) inhibitor|EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 atoms of oxygen) inhibitors|oxidoreductase acting on single donors and incorporating 2 atoms of oxygen (EC 1.13.11.*) inhibitors|EC 1.13.11.* inhibitor|EC 1.13.11.* inhibitors	http://purl.obolibrary.org/obo/CHEBI_76837		
UBERON:0010230	biolink:AnatomicalEntity	eyeball of camera-type eye			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010230		
UBERON:0010231	biolink:AnatomicalEntity	anatomical line between outer ears			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010231		
OBO:cl#has_high_plasma_membrane_amount	biolink:NamedThing	has_high_plasma_membrane_amount	A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617).		mondo.json		http://purl.obolibrary.org/obo/cl#has_high_plasma_membrane_amount		
UBERON:0010235	biolink:AnatomicalEntity	uvular muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010235		
UBERON:0010233	biolink:AnatomicalEntity	stroma of thyroid gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010233		
UBERON:0010227	biolink:AnatomicalEntity	future cardiac atrium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010227		
UBERON:0010225	biolink:AnatomicalEntity	thalamic complex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010225		
MONDO:0013602	biolink:Disease	paragangliomas 5	Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene.	UMLS:C3279992|OMIM:614165	mondo.json	paragangliomas type 5|paragangliomas 5|PGL5|paraganglioma caused by mutation in SDHA|SDHA paraganglioma	http://purl.obolibrary.org/obo/MONDO_0013602	UMLS:C3279992|https://omim.org/entry/614165	
MONDO:0013603	biolink:Disease	myopia 20, autosomal dominant		UMLS:C3279996|OMIM:614166	mondo.json	MYP20|myopia 20, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0013603	UMLS:C3279996|https://omim.org/entry/614166	
MONDO:0013600	biolink:Disease	insomnia	A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep.	MESH:D007319|UMLS:C0393770|OMIM:614163|ICD10WHO:G47.0|HP:0100785|NCIT:C28286|SCTID:193462001|EFO:0004698|ICD10CM:G47.0|ICD9:780.52	mondo.json	DSPD|insomnia|insomnia (disease)|DSPS|delayed sleep phase disorder, susceptibility to|delayed sleep phase syndrome, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0013600	https://icd.who.int/browse10/2019/en#/G47.0|http://identifiers.org/snomedct/193462001|http://purl.bioontology.org/ontology/ICD10CM/G47.0|http://identifiers.org/mesh/D007319|NCIT:C28286	
MONDO:0013601	biolink:Disease	gluthathione peroxidase deficiency		SCTID:234590006|UMLS:C0398747|OMIM:614164	mondo.json	hemolytic anemia due to glutathione peroxidase deficiency|gluthathione peroxidase deficiency|GPXD|glutathione peroxidase deficiency	http://purl.obolibrary.org/obo/MONDO_0013601	UMLS:C0398747|https://omim.org/entry/614164|http://identifiers.org/snomedct/234590006	
MONDO:0001628	biolink:Disease	tinea unguium	A fungal infection of the nail, usually caused by dermatophytes; yeasts; or nondermatophyte molds.	UMLS:C0040261|MESH:D014009|UMLS:C0157701|NCIT:C112214|UMLS:C0157698|UMLS:C0157696|DOID:13074|UMLS:C4082762|UMLS:C0157691|UMLS:C0157690|ICD9:681.9|ICD10CM:B35.1	mondo.json	cellulitis and abscess of finger and toe|cellulitis and abscess of finger|cellulitis and abscess of gluteal region|dermatophytosis of nail|dermatophytic onychia|cellulitis and abscess|cellulitis and abscess of upper arm and forearm|cellulitis and abscess of buttock|dermatophytic onychomycosis|cellulitis and abscess of trunk|onychomycosis|nail dermatophytosis|onychomycosis due to dermatophyte|tinea unguium|cellulitis and abscess of face	http://purl.obolibrary.org/obo/MONDO_0001628	http://purl.bioontology.org/ontology/ICD10CM/B35.1|UMLS:C4082762|http://identifiers.org/mesh/D014009|DOID:13074|UMLS:C0040261|UMLS:C0157701|UMLS:C0157696|UMLS:C0157698|UMLS:C0157690|UMLS:C0157691|NCIT:C112214	
MONDO:0001627	biolink:Disease	dementia	Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders.	NCIT:C4786|DOID:1307|ICD9:294.1|GARD:0011946|ICD9:294.8|SCTID:52448006|ICD9:290.8|MESH:D003704	mondo.json	dementia (disease)|dementia	http://purl.obolibrary.org/obo/MONDO_0001627	NCIT:C4786|http://identifiers.org/mesh/D003704|http://identifiers.org/snomedct/52448006|DOID:1307	
HGNC:5172	biolink:NamedThing	HR			mondo.json		http://identifiers.org/hgnc/5172		
UBERON:0022284	biolink:AnatomicalEntity	lacrimal gland bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0022284		
HGNC:5173	biolink:NamedThing	HRAS			mondo.json		http://identifiers.org/hgnc/5173		
MONDO:0001626	biolink:Disease	traumatic glaucoma		SCTID:68241007|DOID:13060|UMLS:C0339594|ICD9:365.65	mondo.json	glaucoma associated with ocular trauma	http://purl.obolibrary.org/obo/MONDO_0001626	UMLS:C0339594|http://identifiers.org/snomedct/68241007|DOID:13060	
UBERON:0022287	biolink:AnatomicalEntity	tear film			mondo.json		http://purl.obolibrary.org/obo/UBERON_0022287		
MONDO:0001625	biolink:Disease	corpus luteum cyst	A ovarian cyst (disease) that involves the corpus luteum.	SCTID:386762009|ICD9:620.1|DOID:13050|ICD10CM:N83.1	mondo.json	corpus luteum ovarian cyst (disease)|ovarian cyst (disease) of corpus luteum	http://purl.obolibrary.org/obo/MONDO_0001625	http://purl.bioontology.org/ontology/ICD10CM/N83.1|DOID:13050|http://identifiers.org/snomedct/386762009	
UBERON:0022288	biolink:AnatomicalEntity	surface of eyeball			mondo.json		http://purl.obolibrary.org/obo/UBERON_0022288		
MONDO:0001629	biolink:Disease	Jaccoud syndrome		UMLS:C0152084|SCTID:84801008|DOID:13080|ICD9:714.4	mondo.json	Jaccoud's syndrome|Jaccoud syndrome	http://purl.obolibrary.org/obo/MONDO_0001629	http://identifiers.org/snomedct/84801008|UMLS:C0152084|DOID:13080	
MONDO:0001686	biolink:Disease	anatomical narrow angle borderline glaucoma		DOID:13327|ICD9:365.02	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001686	DOID:13327	
MONDO:0001685	biolink:Disease	chronic follicular conjunctivitis		DOID:13326|UMLS:C0155147|ICD9:372.12|SCTID:39429002	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001685	http://identifiers.org/snomedct/39429002|DOID:13326|UMLS:C0155147	
MONDO:0001684	biolink:Disease	exocrine pancreatic insufficiency	Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders.	DOID:13316|ICD9:577.8|UMLS:C0267963|MESH:D010188|ICD10CM:K86.81|SCTID:47367009|NCIT:C84316	mondo.json	exocrine pancreas insufficiency|pancreatic insufficiency|exocrine pancreatic insufficiency	http://purl.obolibrary.org/obo/MONDO_0001684	NCIT:C84316|http://identifiers.org/snomedct/47367009|UMLS:C0267963|http://purl.bioontology.org/ontology/ICD10CM/K86.81|DOID:13316|http://identifiers.org/mesh/D010188	
MONDO:0001683	biolink:Disease	pancreatic mucinous ductal ectasia		NCIT:C5717|DOID:13313|UMLS:C1335310	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001683	UMLS:C1335310|NCIT:C5717|DOID:13313	
MONDO:0001689	biolink:Disease	hypertrophy of tongue papillae		DOID:13333|ICD9:529.3|ICD10CM:K14.3|UMLS:C0392494|SCTID:6971002	mondo.json	tongue papillary hypertrophy	http://purl.obolibrary.org/obo/MONDO_0001689	DOID:13333|http://purl.bioontology.org/ontology/ICD10CM/K14.3|UMLS:C0392494|http://identifiers.org/snomedct/6971002	
MONDO:0001688	biolink:Disease	toxic optic neuropathy		ICD9:377.34|UMLS:C0155303|ICD10CM:H46.3|MESH:D000081028|SCTID:26125006|DOID:13329	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001688	http://identifiers.org/mesh/D000081028|http://purl.bioontology.org/ontology/ICD10CM/H46.3|UMLS:C0155303|http://identifiers.org/snomedct/26125006|DOID:13329	
MONDO:0001687	biolink:Disease	diabetic cataract		DOID:13328|UMLS:C0011876|ICD9:366.41|SCTID:43959009	mondo.json	cataract - diabetic	http://purl.obolibrary.org/obo/MONDO_0001687	http://identifiers.org/snomedct/43959009|UMLS:C0011876|DOID:13328	
HGNC:5181	biolink:NamedThing	HRG			mondo.json		http://identifiers.org/hgnc/5181		
MONDO:0011009	biolink:Disease	muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers		OMIM:601170|UMLS:C1832665|MESH:C563378	mondo.json	muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers	http://purl.obolibrary.org/obo/MONDO_0011009	UMLS:C1832665|http://identifiers.org/mesh/C563378|https://omim.org/entry/601170	
MONDO:0011008	biolink:Disease	cleft lip/palate-intestinal malrotation-cardiopathy syndrome	Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997.	MESH:C538160|OMIM:601165|UMLS:C2931750|Orphanet:2001|SCTID:719456001|GARD:0003430	mondo.json	McPherson Clemens syndrome|McPherson-Clemens syndrome|cleft LIP/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease|cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease	http://purl.obolibrary.org/obo/MONDO_0011008	http://identifiers.org/snomedct/719456001|https://omim.org/entry/601165|UMLS:C2931750|Orphanet:2001|http://identifiers.org/mesh/C538160	ordo_malformation_syndrome
MONDO:0001682	biolink:Disease	diphtheritic peritonitis	A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae.	UMLS:C0152953|DOID:13310|ICD9:032.83|SCTID:13596001	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001682	http://identifiers.org/snomedct/13596001|UMLS:C0152953|DOID:13310	
MONDO:0001681	biolink:Disease	diphtheritic cystitis	A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder.	SCTID:48278001|UMLS:C0152954|DOID:13306|ICD9:032.84|ICD10CM:A36.85	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001681	http://identifiers.org/snomedct/48278001|http://purl.bioontology.org/ontology/ICD10CM/A36.85|UMLS:C0152954|DOID:13306	
MONDO:0001680	biolink:Disease	vaginal mullerian papilloma	A benign papilloma that arises from the vagina in infants and young women.	DOID:133|NCIT:C40255|UMLS:C1519926	mondo.json	vaginal Müllerian papilloma|vaginal Muellerian papilloma|vaginal Mullerian papilloma	http://purl.obolibrary.org/obo/MONDO_0001680	UMLS:C1519926|NCIT:C40255|DOID:133	
MONDO:0013675	biolink:Disease	multiple mitochondrial dysfunctions syndrome 2	Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene.	Orphanet:401874|UMLS:C3280378|DOID:0080134|OMIM:614299	mondo.json	multiple mitochondrial dysfunctions syndrome type 2|BOLA3 fatal multiple mitochondrial dysfunctions syndrome|BOLA3 deficiency|MMDS2|fatal multiple mitochondrial dysfunctions syndrome caused by mutation in BOLA3|multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia|multiple mitochondrial dysfunctions syndrome 2	http://purl.obolibrary.org/obo/MONDO_0013675	https://omim.org/entry/614299|UMLS:C3280378|Orphanet:401874|DOID:0080134	ordo_disease
MONDO:0011012	biolink:Disease	African iron overload	African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis.	DOID:0111033|GARD:0008495|MESH:C537904|SCTID:66576001|OMIM:601195|Orphanet:139507	mondo.json	hereditary iron overload and African Americans|African iron overload|iron overload in Africa|Bantu siderosis	http://purl.obolibrary.org/obo/MONDO_0011012	https://omim.org/entry/601195|http://identifiers.org/snomedct/66576001|Orphanet:139507|DOID:0111033|http://identifiers.org/mesh/C537904	ordo_disease
MONDO:0011011	biolink:Disease	skeletal dysplasia-epilepsy-short stature syndrome	Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait.	OMIM:601187|GARD:0000350|Orphanet:1858|SCTID:715428003|UMLS:C0796046|MESH:C537625	mondo.json	GURRIERI syndrome|Gurrieri-Sammito-Bellussi syndrome|intellectual disability, epilepsy, short stature and skeletal dysplasia|mental retardation, epilepsy, short stature and skeletal dysplasia	http://purl.obolibrary.org/obo/MONDO_0011011	https://omim.org/entry/601187|http://identifiers.org/snomedct/715428003|UMLS:C0796046|http://identifiers.org/mesh/C537625|Orphanet:1858	ordo_malformation_syndrome
MONDO:0013676	biolink:Disease	obsolete hypermethioninemia due to adenosine kinase deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0013676		
MONDO:0011014	biolink:Disease	pleuropulmonary blastoma	A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas.	UMLS:C1266144|GARD:0008757|ICDO:8973/3|Orphanet:64742|ONCOTREE:PPB|NCIT:C5669|MESH:C537516|DOID:4769|OMIM:601200|ICD9:162.9|EFO:0009052|UMLS:CN072455|SCTID:707670009	mondo.json	pleuropulmonary blastoma (morphologic abnormality)|pediatric pulmonary blastoma|PPB|pulmonary blastoma of childhood|PPB familial tumor and dysplasia syndrome|pleuropulmonary blastoma|childhood pulmonary blastoma	http://purl.obolibrary.org/obo/MONDO_0011014	https://omim.org/entry/601200|NCIT:C5669|Orphanet:64742|http://identifiers.org/snomedct/707670009|UMLS:C1266144|http://identifiers.org/mesh/C537516|UMLS:CN072455|DOID:4769	ordo_disease|clingen
MONDO:0013673	biolink:Disease	Wolfram-like syndrome	Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.	UMLS:C3280358|OMIM:614296|Orphanet:411590|UMLS:C4518338|EFO:0009063|MESH:C565631|DOID:0080584|SCTID:734022008	mondo.json	Wolfram-like syndrome, autosomal dominant|Wolfram-like syndrome|hearing loss, progressive, with optic atrophy and/or impaired glucose Regulation|WFSL	http://purl.obolibrary.org/obo/MONDO_0013673	UMLS:C3280358|UMLS:C4518338|DOID:0080584|Orphanet:411590|http://identifiers.org/mesh/C565631|http://identifiers.org/snomedct/734022008|https://omim.org/entry/614296	ordo_disease
MONDO:0011013	biolink:Disease	autosomal dominant hypocalcemia 1	Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene.	UMLS:C3715128|OMIM:601198|DOID:0090107|Orphanet:112|Orphanet:263417	mondo.json	CASR autosomal dominant hypocalcemia|hypocalcemia, autosomal dominant|HYPOC1|autosomal dominant hypocalcemia type 1|hypocalcemia, autosomal dominant 1, with Bartter syndrome|hypocalcemia, autosomal dominant, with Bartter syndrome|hypocalcemia, familial|hypocalcemia, autosomal dominant type 1|hypocalcemia, autosomal dominant 1|autosomal dominant hypocalcemia caused by mutation in CASR|hypercalciuric hypocalcemia	http://purl.obolibrary.org/obo/MONDO_0011013	https://omim.org/entry/601198|DOID:0090107	
MONDO:0013674	biolink:Disease	neurodegeneration with brain iron accumulation 4	Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.	Orphanet:289560|UMLS:C3280371|GARD:0012569|DOID:0110738|ICD9:333.0|SCTID:709415008|OMIM:614298	mondo.json	mitochondrial membrane protein-associated neurodegeneration|C19orf12 neurodegeneration with brain iron accumulation|neurodegeneration with brain iron accumulation type 4|neurodegeneration with brain iron accumulation due to C19orf12 mutation|neurodegeneration with brain iron accumulation 4|NBIA due to C19orf12 mutation|MPAN|mitochondrial Protein-associated neurodegeneration|NBIA4|neurodegeneration with brain iron accumulation caused by mutation in C19orf12	http://purl.obolibrary.org/obo/MONDO_0013674	DOID:0110738|https://omim.org/entry/614298|UMLS:C3280371|Orphanet:289560|http://identifiers.org/snomedct/709415008	ordo_disease
MONDO:0013679	biolink:Disease	sclerosteosis 2	Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene.	OMIM:614305|UMLS:C3280402|DOID:0060757	mondo.json	sclerosteosis caused by mutation in LRP4|SOST2|sclerosteosis 2|LRP4 sclerosteosis|sclerosteosis type 2	http://purl.obolibrary.org/obo/MONDO_0013679	https://omim.org/entry/614305|UMLS:C3280402|DOID:0060757	
MONDO:0011016	biolink:Disease	type 1 diabetes mellitus 11	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 14q24.3-q31.	MESH:C563371|UMLS:C1832605|DOID:0110750|OMIM:601208	mondo.json	IDDM11|diabetes mellitus, insulin-dependent, 11|insulin-dependent diabetes mellitus 11	http://purl.obolibrary.org/obo/MONDO_0011016	DOID:0110750|http://identifiers.org/mesh/C563371|https://omim.org/entry/601208|UMLS:C1832605	
CHEBI:15841	biolink:ChemicalSubstance	polypeptide	A peptide containing ten or more amino acid residues.		mondo.json	Polypeptide|polypeptides|Polypeptid|polipeptido	http://purl.obolibrary.org/obo/CHEBI_15841		
MONDO:0011015	biolink:Disease	cataract 24	A cataract that has material basis in variation in the region 17p13.	MESH:C537774|DOID:0110257|UMLS:C1832609|OMIM:601202	mondo.json	cataract 24, anterior polar|CTRCT24|anterior polar cataract 24|cataract type 24|cataract, anterior polar, 2|CTAA2|cataract 24|anterior polar cataract 2	http://purl.obolibrary.org/obo/MONDO_0011015	DOID:0110257|https://omim.org/entry/601202|UMLS:C1832609|http://identifiers.org/mesh/C537774	
MONDO:0011018	biolink:Disease	brachyolmia-amelogenesis imperfecta syndrome	An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.	DOID:0090143|Orphanet:2899|GARD:0005478|GARD:5478|OMIM:601216|SCTID:716195006	mondo.json	skeletal dysplasia with amelogenesis imperfecta and platyspondyly|Verloes-Bourguignon syndrome|STHAG6|dental anomalies and short stature|DASS|amelogenesis imperfecta and platyspondyly|selective tooth agenesis 5|tooth agenesis, selective, 6|platyspondyly-amelogenesis imperfecta syndrome|platyspondyly with amelogenesis imperfecta|Verloes Bourguignon syndrome|tooth agenesis, selective, 6, formerly	http://purl.obolibrary.org/obo/MONDO_0011018	DOID:0090143|https://omim.org/entry/601216|http://identifiers.org/snomedct/716195006|Orphanet:2899	ordo_malformation_syndrome
MONDO:0013677	biolink:Disease	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene.	DOID:0070252|UMLS:C3553060|OMIM:614302	mondo.json	Ehlers-Danlos syndrome, classic-like, 1|EMERY-Dreifuss muscular dystrophy 7, autosomal dominant|Emery-Dreifuss muscular dystrophy 7, autosomal dominant|EDMD7|TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy|autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in TMEM43	http://purl.obolibrary.org/obo/MONDO_0013677	UMLS:C3553060|https://omim.org/entry/614302|DOID:0070252	
MONDO:0013678	biolink:Disease	EDICT syndrome	EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.	Orphanet:293936|SCTID:722439009|UMLS:C3280392|OMIM:614303	mondo.json	autosomal dominant keratoconus with early-onset anterior polar cataracts|EDICT syndrome|keratoconus with cataract|endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome|KTCNCT|EDICT|endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome|keratoconus, familial, with early-onset anterior polar cataract|familial keratoconus with cataract	http://purl.obolibrary.org/obo/MONDO_0013678	https://omim.org/entry/614303|UMLS:C3280392|Orphanet:293936|http://identifiers.org/snomedct/722439009	ordo_disease
MONDO:0011017	biolink:Disease	Naxos disease	A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.	SCTID:715535009|MESH:C538346|Orphanet:34217|GARD:0009795|UMLS:C1832600|OMIM:601214|DOID:0080551	mondo.json	palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair|keratoderma with woolly hair type I|keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair|Naxos disease|Mal De Naxos|NXD|woolly hair, palmoplantar keratoderma, and Cardiac abnormalities|KWWH type I|keratosis palmoplantaris with arrythmogenic cardiomyopathy|palmoplantar keratoderma with arrythmogenic cardiomyopathy|keratosis palmoplantaris with arrhythmogenic cardiomyopathy|palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy|NAXOS disease|woolly hair palmoplantar keratoderma cardiac abnormalities|cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities	http://purl.obolibrary.org/obo/MONDO_0011017	https://omim.org/entry/601214|Orphanet:34217|http://identifiers.org/snomedct/715535009|http://identifiers.org/mesh/C538346|UMLS:C1832600|DOID:0080551	gard_rare|ordo_disease
MONDO:0013671	biolink:Disease	hydatidiform mole, recurrent, 2	Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene.	OMIM:614293|UMLS:C3280352	mondo.json	complete hydatidiform mole caused by mutation in KHDC3L|HYDM2|KHDC3L complete hydatidiform mole|hydatidiform Mole, complete|hydatidiform Mole, recurrent, type 2|hydatidiform MOLE, recurrent, 2|hydatidiform mole, recurrent, 2	http://purl.obolibrary.org/obo/MONDO_0013671	UMLS:C3280352|https://omim.org/entry/614293	
MONDO:0013672	biolink:Disease	chromosome 15q25 deletion syndrome		OMIM:614294|UMLS:C3280355|DOID:0060396	mondo.json	chromosome 15q25 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013672	UMLS:C3280355|https://omim.org/entry/614294|DOID:0060396	
MONDO:0011010	biolink:Disease	Matthew-Wood syndrome	Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.	DOID:0050819|OMIM:601186|Orphanet:2470|UMLS:C1832661|GARD:0000713|DOID:0111807|Orphanet:98938|MESH:C537768|SCTID:722458000	mondo.json	syndromic microphthalmia type 9|pulmonary agenesis microphthalmi and diaphragmatic defect|clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations|microphthalmia, syndromic type 9|pulmonary agenesis, microphthalmia, and diaphragmatic defect|MCOPS9|spear syndrome|microphthalmia, isolated, with coloboma 8|microphthalmia syndromic 9|anophthalmia, clinical, with mild Facial Dysmorphism and variable malformations of the lung, heart, and diaphragm|anophthalmia-pulmonary hypoplasia syndrome|microphthalmia, syndromic 9|Matthew-Wood syndrome|anophthalmia/microphthalmia and pulmonary hypoplasia|pulmonary Hypoplasia-diaphragmatic hernia-anophthalmia-Cardiac defect|Matthew Wood syndrome|microphthalmia syndromic type 9	http://purl.obolibrary.org/obo/MONDO_0011010	https://omim.org/entry/601186|http://identifiers.org/snomedct/722458000|Orphanet:2470|UMLS:C1832661|http://identifiers.org/mesh/C537768|DOID:0050819|DOID:0111807	ordo_malformation_syndrome
CHEBI:76840	biolink:ChemicalSubstance	EC 1.14.99.* (miscellaneous oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor	An EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor that interferes with the action of any enzyme in the EC 1.14.99.* (miscellaneous) category.		mondo.json	miscellaneous oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.99.*) inhibitors|EC 1.14.99.* (miscellaneous oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitors|miscellaneous oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.99.*) inhibitor|EC 1.14.99.* inhibitor|EC 1.14.99.* inhibitors	http://purl.obolibrary.org/obo/CHEBI_76840		
MONDO:0013670	biolink:Disease	myopia, high, with cataract and vitreoretinal degeneration		OMIM:614292|UMLS:C3280346	mondo.json	myopia, high, with cataract and vitreoretinal degeneration|MCVD	http://purl.obolibrary.org/obo/MONDO_0013670	https://omim.org/entry/614292|UMLS:C3280346	
MONDO:0001697	biolink:Disease	reading disorder	A learning disability involving difficulty reading resulting primarily from neurological factors which affect any part of the reading process.	DOID:13365|ICD9:315.00|ICD9:315.09|SCTID:52824009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001697	http://identifiers.org/snomedct/52824009|DOID:13365	
CHEBI:76857	biolink:ChemicalSubstance	EC 1.3.1.* (oxidoreductase acting on donor CH-CH group, NAD(+) or NADP(+) as acceptor) inhibitor	An EC 1.3.* (oxidoreductase acting on donor CH-CH group) inhibitor that interferes with the action of any such enzyme using NAD(+) or NADP(+) as acceptor (EC 1.3.1.*).		mondo.json	EC 1.3.1.* (oxidoreductase acting on donor CH-CH group, NAD(+) or NADP(+) as acceptor) inhibitors|EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor, NAD(+) or NADP(+) as acceptor) inhibitors|EC 1.3.1.* inhibitors|oxidoreductase acting on CH-CH group of donor with NAD(+) or NADP(+) as acceptor (EC 1.3.1.*) inhibitor|EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor with NAD(+) or NADP(+) as acceptor) inhibitor|EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor with NAD(+) or NADP(+) as acceptor) inhibitors|oxidoreductase acting on CH-CH group of donor with NAD(+) or NADP(+) as acceptor (EC 1.3.1.*) inhibitors|EC 1.3.1.* inhibitor|EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor, NAD(+) or NADP(+) as acceptor) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76857		
MONDO:0001696	biolink:Disease	obsolete Ehlers-Danlos syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001696		
MONDO:0001695	biolink:Disease	senile ectropion		UMLS:C0155193|DOID:13356|ICD9:374.11|SCTID:71659009	mondo.json	involutional ectropion	http://purl.obolibrary.org/obo/MONDO_0001695	http://identifiers.org/snomedct/71659009|DOID:13356|UMLS:C0155193	
MONDO:0001694	biolink:Disease	diffuse interstitial keratitis		ICD9:370.52|DOID:13353|SCTID:17157001|UMLS:C0155089	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001694	http://identifiers.org/snomedct/17157001|DOID:13353|UMLS:C0155089	
MONDO:0001699	biolink:Disease	tinea manuum	A dermatophytosis that involves the hands.	ICD10CM:B35.2|DOID:13369|UMLS:C0153246|SCTID:48971001|ICD9:110.2	mondo.json	dermatophytosis of hand|Tinea manus|dermatophytosis of manus|manus dermatophytosis	http://purl.obolibrary.org/obo/MONDO_0001699	UMLS:C0153246|http://purl.bioontology.org/ontology/ICD10CM/B35.2|DOID:13369|http://identifiers.org/snomedct/48971001	
MONDO:0001698	biolink:Disease	tinea profunda	A dermatophytosis that involves the deep dermal layers.	DOID:13368|UMLS:C1279621|SCTID:214600002	mondo.json	Majocchi's granuloma|deep seated dermatophytosis|granuloma trichophyticum	http://purl.obolibrary.org/obo/MONDO_0001698	http://identifiers.org/snomedct/214600002|UMLS:C1279621|DOID:13368	
UBERON:0010291	biolink:AnatomicalEntity	layer of sclera			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010291		
MONDO:0013659	biolink:Disease	microcephaly-capillary malformation syndrome		UMLS:C3280296|Orphanet:294016|OMIM:614261|SCTID:703369003|ICD9:759.89	mondo.json	MIC-CAP syndrome|microcephaly-capillary malformation syndrome|microcephaly-cutaneous capillary malformation syndrome|MICCAP|MIC-CM syndrome	http://purl.obolibrary.org/obo/MONDO_0013659	Orphanet:294016|https://omim.org/entry/614261|UMLS:C3280296|http://identifiers.org/snomedct/703369003	ordo_malformation_syndrome
UBERON:0010294	biolink:AnatomicalEntity	scleral endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010294		
UBERON:0010295	biolink:AnatomicalEntity	substantia propria of sclera			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010295		
MONDO:0001693	biolink:Disease	ego-dystonic sexual orientation	A gender identity disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation.	DOID:13352|ICD9:302.0	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001693	DOID:13352	
MONDO:0001692	biolink:Disease	pedophilia	A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving sexual activity with a prepubescent child or children.	ICD10CM:F65.4|DOID:13351|NCIT:C94355|MESH:D010378|ICD9:302.2|SCTID:84002002	mondo.json	Paedophilia	http://purl.obolibrary.org/obo/MONDO_0001692	NCIT:C94355|DOID:13351|http://identifiers.org/snomedct/84002002|http://identifiers.org/mesh/D010378|http://purl.bioontology.org/ontology/ICD10CM/F65.4	
MPATH:1000	biolink:NamedThing	pathological phenotype observation	Phenotypic observation of the presence or absence of a pathological entity.		mondo.json		http://purl.obolibrary.org/obo/MPATH_1000		
MONDO:0001691	biolink:Disease	laryngeal cartilage cancer	A malignant neoplasm involving the laryngeal cartilage.	UMLS:C0153486|SCTID:363431006|ICD9:161.3|DOID:13348	mondo.json	cancer of laryngeal cartilage|malignant tumor of laryngeal cartilage|malignant neoplasm of laryngeal cartilage|laryngeal cartilage cancer|malignant laryngeal cartilage neoplasm|malignant neoplasm of laryngeal cartilages	http://purl.obolibrary.org/obo/MONDO_0001691	UMLS:C0153486|http://identifiers.org/snomedct/363431006|DOID:13348	
MONDO:0001690	biolink:Disease	parasitic conjunctivitis		DOID:13341|UMLS:C0155148|ICD9:372.15|SCTID:13816006	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001690	http://identifiers.org/snomedct/13816006|DOID:13341|UMLS:C0155148	
UBERON:0010299	biolink:AnatomicalEntity	scleral mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010299		
MONDO:0013664	biolink:Disease	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency		OMIM:614279|SCTID:49013001|Orphanet:443087|UMLS:C1839840|DOID:0111773|MESH:C564109	mondo.json	SRXY8|male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase|46XY sex reversal 8, modifier of|46,XY sex reversal 8|46XY sex reversal 8|46,XY sex reversal type 8	http://purl.obolibrary.org/obo/MONDO_0013664	DOID:0111773|https://omim.org/entry/614279|Orphanet:443087|http://identifiers.org/snomedct/49013001|http://identifiers.org/mesh/C564109|UMLS:C1839840	ordo_disease
MONDO:0011001	biolink:Disease	Brugada syndrome 1	Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene.	UMLS:CN029323|OMIM:601144|DOID:0110218	mondo.json	SCN5A Brugada syndrome|sudden unexplained nocturnal death syndrome|Brugada syndrome caused by mutation in SCN5A|right bundle branch block, St segment elevation, and sudden death syndrome|Brugada syndrome type 1|Brugada syndrome 1|BRGDA1|Cardiac conduction defect, nonspecific	http://purl.obolibrary.org/obo/MONDO_0011001	DOID:0110218|https://omim.org/entry/601144|UMLS:CN029323	
CHEBI:62215	biolink:ChemicalSubstance	allelochemical	A class of secondary metabolites developed by many plants to influence the behaviour, growth or survival of herbivores, and thus acting as a defence against herbivory.		mondo.json	allelochemicals	http://purl.obolibrary.org/obo/CHEBI_62215		
MONDO:0013665	biolink:Disease	epilepsy, juvenile myoclonic, susceptibility to, 9		OMIM:614280|DOID:0111328	mondo.json	epilepsy, juvenile myoclonic, susceptibility to, 9|EJM9	http://purl.obolibrary.org/obo/MONDO_0013665	https://omim.org/entry/614280|DOID:0111328	predisposition
MONDO:0011000	biolink:Disease	guanylate cyclase 2E		OMIM:601138	mondo.json	GC-E|guanylate cyclase 2E, pseudogene|GUCY2EP|guanylyl cyclase, Membrane, type E|guanylate cyclase type 2E|Gucy2D, mouse, homolog of|guanylate cyclase 2E|GUCY2E	http://purl.obolibrary.org/obo/MONDO_0011000	https://omim.org/entry/601138	
MONDO:0013662	biolink:Disease	Barrett esophagus	Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)	Orphanet:1232|OMIM:614266|EFO:0000280|DOID:9206|ICD9:530.85|Orphanet:99976|SCTID:196609006|UMLS:C0279628|NCIT:C2891|MESH:D001471	mondo.json	Barrett's oesophagus|Barrett's esophagus|Barrett's esophagus with esophagitis|Barrett esophagus/esophageal adenocarcinoma|Barrett's ulcer of esophagus|cello|CLE|BE|Barrett esophagus|adenocarcinoma of esophagus|Barretts syndrome|columnar-lined esophagus|Barrett metaplasia|columnar epithelial-lined Lower esophagus|ulcerative esophagitis	http://purl.obolibrary.org/obo/MONDO_0013662	http://identifiers.org/snomedct/196609006|https://omim.org/entry/614266|DOID:9206|NCIT:C2891|http://identifiers.org/mesh/D001471|Orphanet:1232	
MONDO:0011003	biolink:Disease	dilated cardiomyopathy 1E	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene.	MESH:C563384|GARD:0005644|DOID:0110433|OMIM:601154|UMLS:C1832680	mondo.json	CMD1E|cardiomyopathy dilated with conduction defect type 2|CDCD2|dilated cardiomyopathy with conduction defect 2|cardiomyopathy, dilated, with conduction defect 2|SCN5A familial isolated dilated cardiomyopathy|dilated cardiomyopathy type 1E|dilated cardiomyopathy with conduction disorder and arrhythmia|familial isolated dilated cardiomyopathy caused by mutation in SCN5A|cardiomyopathy, dilated, with conduction disorder and arrhythmia|cardiomyopathy, dilated, 1E|cardiomyopathy, dilated, type 1E	http://purl.obolibrary.org/obo/MONDO_0011003	DOID:0110433|http://identifiers.org/mesh/C563384|https://omim.org/entry/601154|UMLS:C1832680	gard_rare
MONDO:0011002	biolink:Disease	neuropathy, hereditary motor and sensory, type 6A	Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene.	OMIM:601152	mondo.json	neuropathy, hereditary motor and sensory, type 6|MFN2 hereditary motor and sensory neuropathy type 6|peripheral neuropathy and optic atrophy|hereditary motor and sensory neuropathy type 6 caused by mutation in MFN2|Charcot-Marie-Tooth disease, type 6A|neuropathy, hereditary motor and sensory, type VIA|hereditary motor and sensory neuropathy VIA|HMSN 6A|HMSN6A|Charcot-Marie-Tooth disease, type 6	http://purl.obolibrary.org/obo/MONDO_0011002	https://omim.org/entry/601152	
MONDO:0013663	biolink:Disease	platelet-activating factor acetylhydrolase deficiency		MESH:C566640|OMIM:614278|HP:0040175|UMLS:C3280315	mondo.json	PAFAD|platelet-activating factor acetylhydrolase deficiency (disease)|platelet-activating factor acetylhydrolase deficiency	http://purl.obolibrary.org/obo/MONDO_0013663	https://omim.org/entry/614278|UMLS:C3280315|http://identifiers.org/mesh/C566640	
MONDO:0013668	biolink:Disease	tetrasomy 18p	Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.	Orphanet:3307|MESH:C538306|GARD:0000035|SCTID:698849002|ICD9:758.89|OMIM:614290|UMLS:C0795868	mondo.json	Isochromosome 18p|tetrasomy 18p|tetrasomy type 18P|tetrasomy type 18p|chromosome 18p tetrasomy|tetrasomy chromosome 18p|Isochromosome 18P syndrome	http://purl.obolibrary.org/obo/MONDO_0013668	https://omim.org/entry/614290|http://identifiers.org/snomedct/698849002|Orphanet:3307|http://identifiers.org/mesh/C538306|UMLS:C0795868	ordo_malformation_syndrome|gard_rare
MONDO:0011005	biolink:Disease	trisomy 18-like syndrome		MESH:C563382|OMIM:601161|UMLS:C1832677	mondo.json	trisomy 18-like syndrome	http://purl.obolibrary.org/obo/MONDO_0011005	http://identifiers.org/mesh/C563382|https://omim.org/entry/601161|UMLS:C1832677	
MONDO:0011004	biolink:Disease	lissencephaly type 3-metacarpal bone dysplasia syndrome	This syndrome is characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence.	SCTID:718720007|MESH:C563383|OMIM:601160|Orphanet:86822|UMLS:C1832678	mondo.json	lissencephaly type III and bone dysplasia|lissencephaly type 3 and bone dysplasia	http://purl.obolibrary.org/obo/MONDO_0011004	http://identifiers.org/mesh/C563383|https://omim.org/entry/601160|http://identifiers.org/snomedct/718720007|UMLS:C1832678|Orphanet:86822	ordo_malformation_syndrome
MONDO:0013669	biolink:Disease	breast-ovarian cancer, familial, susceptibility to, 4	Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51D gene.	OMIM:614291	mondo.json	breast-ovarian cancer, familial, susceptibility to, 4|BROVCA4|susceptibility to familial breast-ovarian cancer 4|hereditary breast ovarian cancer syndrome caused by mutation in RAD51D|breast-ovarian cancer, familial, susceptibility to, type 4|RAD51D hereditary breast ovarian cancer syndrome	http://purl.obolibrary.org/obo/MONDO_0013669	https://omim.org/entry/614291	predisposition
MONDO:0013666	biolink:Disease	Stickler syndrome, type 5	Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene.	UMLS:C3280342|OMIM:614284	mondo.json	COL9A2 autosomal recessive Stickler syndrome|autosomal recessive Stickler syndrome caused by mutation in COL9A2|STL5|STICKLER syndrome, type V	http://purl.obolibrary.org/obo/MONDO_0013666	https://omim.org/entry/614284|UMLS:C3280342	
MONDO:0011007	biolink:Disease	diaphragmatic defect-limb deficiency-skull defect syndrome	This syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. It has been reported only once in four successive foetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four foetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case). Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent. Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies.	SCTID:721095007|Orphanet:2141|GARD:0002397|MESH:C563380|OMIM:601163	mondo.json	froster syndrome|diaphragmatic defect limb deficiency skull defect|diaphragmatic defects, limb deficiencies, and ossification defects of skull|froster-Huch syndrome	http://purl.obolibrary.org/obo/MONDO_0011007	http://identifiers.org/mesh/C563380|https://omim.org/entry/601163|http://identifiers.org/snomedct/721095007|Orphanet:2141	ordo_malformation_syndrome|gard_rare
MONDO:0011006	biolink:Disease	hereditary spastic paraplegia 9A		DOID:0110824|OMIM:601162|UMLS:CN237701|MESH:C536868|Orphanet:447753	mondo.json	hereditary spastic paraplegia type 9A|cataracts with motor neuronopathy, short stature, and skeletal abnormalities|autosomal dominant spastic paraplegia 9A|autosomal dominant complex spastic paraplegia type 9A|cataracts with motor neuronopathy, short stature and skeletal abnormalities|spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux|AD-SPG9A|cataracts motor neuropathy-short stature-skeletal anomalies syndrome|spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux|SPG9A|spastic paraplegia 9A, autosomal dominant|spastic paraparesis with amyopathy, cataracts, and gastroesophageal reflux	http://purl.obolibrary.org/obo/MONDO_0011006	http://identifiers.org/mesh/C536868|UMLS:CN237701|Orphanet:447753|https://omim.org/entry/601162|DOID:0110824	ordo_clinical_subtype
MONDO:0013667	biolink:Disease	obsolete myelodysplastic syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0013667		
MONDO:0013660	biolink:Disease	arthrogryposis, Perthes disease, and upward gaze palsy		UMLS:C3280309|OMIM:614262	mondo.json	APUG|arthrogryposis, Perthes disease, and upward gaze palsy	http://purl.obolibrary.org/obo/MONDO_0013660	https://omim.org/entry/614262|UMLS:C3280309	
MONDO:0013661	biolink:Disease	combined malonic and methylmalonic acidemia	Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.	GARD:0010818|OMIM:614265|SCTID:702365002|MESH:C580002|UMLS:C3280314|DOID:0111263|Orphanet:289504	mondo.json	combined malonic and methylmalonic aciduria|CMAMMA|combined malonic and methylmalonic acidemia	http://purl.obolibrary.org/obo/MONDO_0013661	https://omim.org/entry/614265|UMLS:C3280314|Orphanet:289504|DOID:0111263|http://identifiers.org/mesh/C580002|http://identifiers.org/snomedct/702365002	ordo_disease
MONDO:0001664	biolink:Disease	submucous uterine fibroid		SCTID:95279007|ICD9:218.0|ICD10CM:D25.0|DOID:13222|UMLS:C0153993	mondo.json	submucous leiomyoma of uterus	http://purl.obolibrary.org/obo/MONDO_0001664	DOID:13222|http://purl.bioontology.org/ontology/ICD10CM/D25.0|UMLS:C0153993|http://identifiers.org/snomedct/95279007	
MONDO:0001663	biolink:Disease	hole retinal cyst		ICD9:362.54|DOID:13214|UMLS:C1261331|SCTID:1079004	mondo.json	macular pseudohole retinal cyst|macular cyst, hole, or pseudohole of retina|macular cyst or hole	http://purl.obolibrary.org/obo/MONDO_0001663	http://identifiers.org/snomedct/1079004|DOID:13214|UMLS:C1261331	
MONDO:0001662	biolink:Disease	obsolete right bundle branch block		ICD9:426.51|ICD9:426.4|SCTID:59118001|DOID:13209|HP:0011712	mondo.json	right bundle branch block with left posterior fascicular block|obsolete right bundle branch block (disease)|right bundle branch block	http://purl.obolibrary.org/obo/MONDO_0001662	DOID:13209|http://identifiers.org/snomedct/59118001	
UBERON:0009291	biolink:AnatomicalEntity	cartilaginous vertebral centrum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009291		
MONDO:0001661	biolink:Disease	background diabetic retinopathy	An early stage of diabetic retinopathy that is characterized by retinal hemorrhage and exudate, but without proliferation of the blood vessels.	DOID:13208|NCIT:C35668|SCTID:390834004|ICD9:362.03|ICD9:362.01|UMLS:C0004606	mondo.json	non-proliferative diabetic retinopathy|non proliferative diabetic retinopathy	http://purl.obolibrary.org/obo/MONDO_0001661	DOID:13208|http://identifiers.org/snomedct/390834004|UMLS:C0004606|NCIT:C35668	
MONDO:0001668	biolink:Disease	internal pathological resorption of tooth		SCTID:52994003|DOID:13239|ICD9:521.41	mondo.json	pathological tooth resorption - internal|internal resorption of crown of tooth|internal granuloma of pulp|internal resorption of tooth|internal pathologic resorption|internal pathological resorption|pink spot lesion of tooth|pink tooth of mummery	http://purl.obolibrary.org/obo/MONDO_0001668	DOID:13239|http://identifiers.org/snomedct/52994003	
UBERON:0009292	biolink:AnatomicalEntity	embryonic nasal process			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009292		
MONDO:0001667	biolink:Disease	streptobacillus infectious disease		SCTID:721738002|UMLS:C0947939	mondo.json	infection caused by streptobacillus|streptobacillus infection	http://purl.obolibrary.org/obo/MONDO_0001667	http://identifiers.org/snomedct/721738002|UMLS:C0947939	
MONDO:0001666	biolink:Disease	retinal dystrophies primarily involving Bruch's membrane	A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation.	DOID:13227|ICD9:362.77	mondo.json	inherited retinal dystrophy of Bruch's membrane|Bruch's membrane inherited retinal dystrophy|retinal dystrophies primarily involving Bruch membrane	http://purl.obolibrary.org/obo/MONDO_0001666	DOID:13227	
MONDO:0001665	biolink:Disease	oculoglandular tularemia	A tularemia that results in inflammation of eye and swelling of lymph glands in front of the ear.	UMLS:C0152944|DOID:13226|ICD10CM:A21.1|ICD9:021.3|SCTID:73363000	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001665	DOID:13226|http://purl.bioontology.org/ontology/ICD10CM/A21.1|UMLS:C0152944|http://identifiers.org/snomedct/73363000	
UBERON:0010285	biolink:AnatomicalEntity	midbrain basal plate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010285		
UBERON:0010286	biolink:AnatomicalEntity	midbrain neural tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010286		
HP:0010465	biolink:PhenotypicFeature	Precocious puberty in females	The onset of puberty before the age of 8 years in girls.	SNOMEDCT_US:19911007|UMLS:C0271616	mondo.json		http://purl.obolibrary.org/obo/HP_0010465		
MONDO:0013648	biolink:Disease	familial progressive hyperpigmentation	Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated.	UMLS:CN205811|SCTID:715630006|UMLS:C1840392|OMIM:614233|Orphanet:79146	mondo.json	hyperpigmentation, familial progressive, 1|melanosis universalis hereditaria|universal melanosis|Fph|melanosis diffusa congenita|FPH1	http://purl.obolibrary.org/obo/MONDO_0013648	Orphanet:79146|https://omim.org/entry/614233|UMLS:C1840392|UMLS:CN205811|http://identifiers.org/snomedct/715630006	ordo_disease
MONDO:0013649	biolink:Disease	hypotrichosis 9	A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3.	DOID:0110706|UMLS:C3280252|OMIM:614237	mondo.json	hypotrichosis type 9|hypotrichosis 9|hypt9|HYPT9	http://purl.obolibrary.org/obo/MONDO_0013649	DOID:0110706|https://omim.org/entry/614237|UMLS:C3280252	
UBERON:0010284	biolink:AnatomicalEntity	lacrimal punctum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010284		
MONDO:0001660	biolink:Disease	proliferative diabetic retinopathy	Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness.	NCIT:C84457|DOID:13207|SCTID:59276001|UMLS:C0154830|ICD9:362.02	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001660	http://identifiers.org/snomedct/59276001|NCIT:C84457|UMLS:C0154830|DOID:13207	
HP:0010461	biolink:PhenotypicFeature	Abnormality of the male genitalia	Abnormality of the male genital system.	UMLS:C4023819	mondo.json	Abnormality of the male genitalia|Abnormal male genitals	http://purl.obolibrary.org/obo/HP_0010461		
HP:0010460	biolink:PhenotypicFeature	Abnormality of the female genitalia	Abnormality of the female genital system.	UMLS:C4023820	mondo.json		http://purl.obolibrary.org/obo/HP_0010460		
MONDO:0013653	biolink:Disease	Parkinson disease 18, autosomal dominant, susceptibility to	Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the EIF4G1 gene.	UMLS:C3280271|OMIM:614251	mondo.json	Parkinson disease 18|Parkinson disease 18, autosomal dominant, susceptibility to|EIF4G1 hereditary late onset Parkinson disease|susceptibility to autosomal dominant Parkinson disease 18|hereditary late onset Parkinson disease caused by mutation in EIF4G1|PARK18	http://purl.obolibrary.org/obo/MONDO_0013653	https://omim.org/entry/614251|UMLS:C3280271	predisposition
MONDO:0013654	biolink:Disease	aneurysm, intracranial berry, 11		UMLS:C3280275|OMIM:614252	mondo.json	aneurysm, intracranial BERRY, 11|ANIB11	http://purl.obolibrary.org/obo/MONDO_0013654	https://omim.org/entry/614252|UMLS:C3280275	
MONDO:0013651	biolink:Disease	intellectual disability, autosomal recessive 18	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene.	GARD:0012233|UMLS:C3280265|OMIM:614249	mondo.json	intellectual disability, autosomal recessive 18|intellectual disability, autosomal recessive type 18|autosomal recessive nonsyndromic mental retardation-18|MED23|MED23 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive type 18|intellectual developmental disorder, autosomal recessive 18, with or without epilepsy|autosomal recessive nonsyndromic intellectual disability-18|mental retardation, autosomal recessive 18|MRT18|autosomal recessive non-syndromic intellectual disability caused by mutation in MED23	http://purl.obolibrary.org/obo/MONDO_0013651	https://omim.org/entry/614249|UMLS:C3280265	
MONDO:0013652	biolink:Disease	narcolepsy 7	Any narcolepsy in which the cause of the disease is a mutation in the MOG gene.	UMLS:C3280266|OMIM:614250	mondo.json	MOG narcolepsy|narcolepsy 7|narcolepsy type 7|NRCLP7|narcolepsy caused by mutation in MOG	http://purl.obolibrary.org/obo/MONDO_0013652	https://omim.org/entry/614250|UMLS:C3280266	
MONDO:0013657	biolink:Disease	intellectual disability, autosomal dominant 10	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene.	OMIM:614256|DOID:0070040|UMLS:C3280284	mondo.json	autosomal dominant non-syndromic intellectual disability 10|autosomal dominant non-syndromic intellectual disability caused by mutation in CACNG2|intellectual disability, autosomal dominant type 10|MRD10|mental retardation, autosomal dominant type 10|intellectual disability, autosomal dominant 10|CACNG2 autosomal dominant non-syndromic intellectual disability|autosomal dominant intellectual disability 10|mental retardation, autosomal dominant 10|autosomal dominant mental retardation 10	http://purl.obolibrary.org/obo/MONDO_0013657	https://omim.org/entry/614256|UMLS:C3280284|DOID:0070040	
MONDO:0013658	biolink:Disease	intellectual disability, autosomal dominant 11	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene.	OMIM:614257|DOID:0070041|UMLS:C3280285	mondo.json	EPB41L1 autosomal dominant non-syndromic intellectual disability|autosomal dominant non-syndromic intellectual disability 11|MRD11|autosomal dominant non-syndromic intellectual disability caused by mutation in EPB41L1|mental retardation, autosomal dominant type 11|intellectual disability, autosomal dominant type 11|intellectual developmental disorder, autosomal dominant 11|intellectual disability, autosomal dominant 11|mental retardation, autosomal dominant 11|autosomal dominant mental retardation 11|autosomal dominant intellectual disability 11	http://purl.obolibrary.org/obo/MONDO_0013658	https://omim.org/entry/614257|UMLS:C3280285|DOID:0070041	
MONDO:0013655	biolink:Disease	intellectual disability, autosomal dominant 8	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene.	UMLS:C3280282|DOID:0070038|OMIM:614254	mondo.json	mental retardation, autosomal dominant type 8|MRD8|autosomal dominant non-syndromic intellectual disability 8|intellectual disability, autosomal dominant 8, formerly|GRIN1 autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant 8|autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN1|autosomal dominant mental retardation 8|mental retardation, autosomal dominant 8, formerly|neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant|intellectual disability, autosomal dominant type 8|NDHMSD|autosomal dominant intellectual disability 8|mental retardation, autosomal dominant 8	http://purl.obolibrary.org/obo/MONDO_0013655	https://omim.org/entry/614254|UMLS:C3280282|DOID:0070038	
MONDO:0013656	biolink:Disease	intellectual disability, autosomal dominant 9	An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity.	NCIT:C133742|OMIM:614255|DOID:0070039|UMLS:C3280283	mondo.json	NESCAV syndrome|autosomal dominant non-syndromic intellectual disability caused by mutation in KIF1A|autosomal dominant non-syndromic intellectual disability 9|autosomal dominant mental retardation 9|intellectual disability, autosomal dominant 9|intellectual disability, autosomal dominant type 9|mental retardation, autosomal dominant type 9|mental retardation, autosomal dominant 9|MRD9|autosomal dominant intellectual disability 9|KIF1A autosomal dominant non-syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0013656	NCIT:C133742|https://omim.org/entry/614255|UMLS:C3280283|DOID:0070039	
HP:0010468	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the testes	Absence or underdevelopment of the testes.	UMLS:C4023817	mondo.json	Absent/underdeveloped testes|Absent/small testes	http://purl.obolibrary.org/obo/HP_0010468		
MONDO:0001659	biolink:Disease	obsolete MONDO:0001659			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001659		
MONDO:0001658	biolink:Disease	nontoxic goiter	Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy.	NCIT:C35271|DOID:13195|SCTID:267369002|UMLS:C0221777	mondo.json	goiter, non-toxic|non-toxic goiter|non-toxic goitre|goitre, non-toxic|nontoxic goiter|non-toxic simple goitre|Nodule-thyroid, non tox|euthyroid goiter	http://purl.obolibrary.org/obo/MONDO_0001658	NCIT:C35271|DOID:13195|UMLS:C0221777	
GO:1990611	biolink:NamedThing	regulation of cytoplasmic translational initiation in response to stress	Modulation of the frequency, rate or extent of cytoplasmic translational initiation as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation).		mondo.json		http://purl.obolibrary.org/obo/GO_1990611		
CHEBI:76863	biolink:ChemicalSubstance	EC 1.5.1.* (oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor) inhibitor	An EC 1.5.* (oxidoreductase acting on donor CH-NH group) inhibitor that interferes with the action of any such enzyme using NAD(+) or NADP(+) as acceptor (EC 1.5.1.*).		mondo.json	oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor (EC 1.5.1.*) inhibitor|EC 1.5.1.* inhibitors|EC 1.5.1.* (oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor) inhibitors|EC 1.5.1.* inhibitor|oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor (EC 1.5.1.*) inhibitors	http://purl.obolibrary.org/obo/CHEBI_76863		
MONDO:0013650	biolink:Disease	hypotrichosis 10	A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3.	OMIM:614238|DOID:0110707|UMLS:C3280253	mondo.json	hypotrichosis type 10|hypt10|HYPT10|hypotrichosis 10	http://purl.obolibrary.org/obo/MONDO_0013650	https://omim.org/entry/614238|DOID:0110707|UMLS:C3280253	
GO:1990613	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_1990613		
MONDO:0001675	biolink:Disease	obsolete porphyria			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001675		
MONDO:0001674	biolink:Disease	diverticulitis of colon	Inflammation of the colonic diverticula, generally with abscess formation and subsequent perforation.	SCTID:111359004|UMLS:C0012814|ICD9:562.11|DOID:13254|ICD9:562.12|MESH:D004239	mondo.json	colonic diverticular disease|colon diverticulitis	http://purl.obolibrary.org/obo/MONDO_0001674	UMLS:C0012814|http://identifiers.org/mesh/D004239|DOID:13254|http://identifiers.org/snomedct/111359004	
MONDO:0001673	biolink:Disease	diarrheal disease	The condition of having at least three loose or liquid bowel movements each day.	ICD9:009.2|SCTID:128333008|HP:0002014|SCTID:111939009|UMLS:C0013369|NCIT:C2987|DOID:13250|MESH:D003967	mondo.json	loose stools|frequent stools|diarrheal disorder|diarrhea of presumed infectious origin|diarrhoea|diarrhea|diarrheal disease	http://purl.obolibrary.org/obo/MONDO_0001673	http://identifiers.org/mesh/D003967|NCIT:C2987|http://identifiers.org/snomedct/128333008|DOID:13250	
MONDO:0025622	biolink:Disease	Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1		OMIM:500013	mondo.json	CMTMA1	http://purl.obolibrary.org/obo/MONDO_0025622	https://omim.org/entry/500013	
NCBITaxon:2698737	biolink:OrganismalEntity	Sar		GC_ID:1	mondo.json	SAR supergroup	http://purl.obolibrary.org/obo/NCBITaxon_2698737		
MONDO:0001672	biolink:Disease	bronchus cancer	A malignant neoplasm involving the bronchus	SCTID:363493006|DOID:1325|ICD9:162.8|ICD9:162.9	mondo.json	malignant bronchus neoplasm|malignant neoplasm of bronchus|malignant neoplasm of bronchus or lung|malignant neoplasm of bronchus and lung|cancer of bronchus|bronchus cancer|malignant neoplasm of bronchus and lung, unspecified	http://purl.obolibrary.org/obo/MONDO_0001672	DOID:1325|http://identifiers.org/snomedct/363493006	
MONDO:0001679	biolink:Disease	obsolete crater-like holes of optic disc		ICD9:377.22|DOID:13295	mondo.json	crater-like optic disc holes	http://purl.obolibrary.org/obo/MONDO_0001679	DOID:13295	
MONDO:0001678	biolink:Disease	intestinal tuberculosis	A tuberculosis that involves the intestine.	ICD9:014.8|UMLS:C0275911|ICD9:014.80|SCTID:60136008|DOID:13282	mondo.json	intestine tuberculosis|tuberculosis of intestine	http://purl.obolibrary.org/obo/MONDO_0001678	DOID:13282|http://identifiers.org/snomedct/60136008|UMLS:C0275911	
MONDO:0001677	biolink:Disease	obsolete Rift valley fever			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001677		
MONDO:0001676	biolink:Disease	erythropoietic protoporphyria	A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly.	OMIMPS:177000|SCTID:51022005|MESH:D046351|DOID:13270	mondo.json	EPP (erythropoietic protoporphyria porphyria)|protoporphyria	http://purl.obolibrary.org/obo/MONDO_0001676	DOID:13270|http://identifiers.org/mesh/D046351|https://omim.org/phenotypicSeries/PS177000|http://identifiers.org/snomedct/51022005	
MONDO:0013639	biolink:Disease	narcolepsy 6, susceptibility to		OMIM:614223	mondo.json	narcolepsy 6, susceptibility to|narcolepsy 6|NRCLP6	http://purl.obolibrary.org/obo/MONDO_0013639	https://omim.org/entry/614223	predisposition
UBERON:0010272	biolink:AnatomicalEntity	hyoid apparatus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010272		
MONDO:0013637	biolink:Disease	primary biliary cholangitis 5		UMLS:C3280202|OMIM:614221	mondo.json	biliary cirrhosis, primary, 5|PBC5	http://purl.obolibrary.org/obo/MONDO_0013637	https://omim.org/entry/614221|UMLS:C3280202	
MONDO:0013638	biolink:Disease	Warburg micro syndrome 3	Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene.	OMIM:614222|DOID:0110718|UMLS:C3280203	mondo.json	micro syndrome 3|RAB18 Warburg micro syndrome|Warburg micro syndrome caused by mutation in RAB18|WARBURG micro syndrome 3|Warburg micro syndrome 3|Warburg micro syndrome type 3|WARBM3	http://purl.obolibrary.org/obo/MONDO_0013638	https://omim.org/entry/614222|DOID:0110718|UMLS:C3280203	
UBERON:0010273	biolink:AnatomicalEntity	zone of hyoid bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010273		
MONDO:0001671	biolink:Disease	mucocele of appendix	Accumulation of mucus within the appendix.	DOID:13248|ICD9:543.9|NCIT:C3241|SCTID:53773002|UMLS:C0026684	mondo.json	Appendicele mucocele|appendiceal mucocele|mucocele of the appendix	http://purl.obolibrary.org/obo/MONDO_0001671	NCIT:C3241|UMLS:C0026684|http://identifiers.org/snomedct/53773002|DOID:13248	
MONDO:0001670	biolink:Disease	tooth resorption	Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676)	ICD9:521.4|DOID:13240|SCTID:70931000|MESH:D014091|UMLS:C0040451	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001670	http://identifiers.org/mesh/D014091|DOID:13240|http://identifiers.org/snomedct/70931000|UMLS:C0040451	
UBERON:0010276	biolink:AnatomicalEntity	space in vertebral column			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010276		
MONDO:0013642	biolink:Disease	holoprosencephaly 11	Any holoprosencephaly in which the cause of the disease is a mutation in the CDON gene.	DOID:0110877|UMLS:C3280215|OMIM:614226	mondo.json	holoprosencephaly caused by mutation in CDON|holoprosencephaly 11|holoprosencephaly type 11|CDON holoprosencephaly|HPE11	http://purl.obolibrary.org/obo/MONDO_0013642	https://omim.org/entry/614226|DOID:0110877|UMLS:C3280215	
MONDO:0013643	biolink:Disease	hyperuricemic nephropathy, familial juvenile type 3		OMIM:614227|UMLS:C3280216	mondo.json	HNFJ3|hyperuricemic nephropathy, familial juvenile, 3	http://purl.obolibrary.org/obo/MONDO_0013643	https://omim.org/entry/614227|UMLS:C3280216	
MONDO:0013640	biolink:Disease	familial retinal arterial macroaneurysm		OMIM:614224|UMLS:C3280205|SCTID:764452004|GARD:0012779|Orphanet:284247	mondo.json	retinal arterial macroaneurysm and supravalvular pulmonic stenosis|RAMSVPS|retinal arterial macroaneurysm with supravalvular pulmonic stenosis|Fram	http://purl.obolibrary.org/obo/MONDO_0013640	https://omim.org/entry/614224|UMLS:C3280205|http://identifiers.org/snomedct/764452004|Orphanet:284247	ordo_malformation_syndrome
MONDO:0013641	biolink:Disease	Warburg micro syndrome 2	Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene.	UMLS:C3280214|OMIM:614225|DOID:0110717	mondo.json	micro syndrome 2|RAB3GAP2 Warburg micro syndrome|WARBURG micro syndrome 2|WARBM2|Warburg micro syndrome 2|Warburg micro syndrome caused by mutation in RAB3GAP2|Warburg micro syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0013641	https://omim.org/entry/614225|DOID:0110717|UMLS:C3280214	
MONDO:0013646	biolink:Disease	chromosome 8q21.11 deletion syndrome	8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.	UMLS:C4305343|OMIM:614230|UMLS:C3280231|Orphanet:284160|SCTID:718615003|DOID:0060425	mondo.json	8q21.11 microdeletion syndrome|chromosome 8q21.11 deletion syndrome, isolated cases|deletion 8q21.11|chromosome 8q21.11 deletion syndrome|monosomy 8q21.11|Del(8)(q21.11)	http://purl.obolibrary.org/obo/MONDO_0013646	https://omim.org/entry/614230|DOID:0060425|UMLS:C3280231|http://identifiers.org/snomedct/718615003|UMLS:C4305343|Orphanet:284160	ordo_malformation_syndrome
MONDO:0013647	biolink:Disease	obsolete primary microcephaly-epilepsy-permanent neonatal diabetes syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0013647		
MONDO:0013644	biolink:Disease	Charcot-Marie-Tooth disease axonal type 2O	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene.	GARD:0012434|OMIM:614228|DOID:0110175|Orphanet:284232|UMLS:C3280220	mondo.json	Charcot-Marie-Tooth neuropathy, axonal, type 2O|Charcot-Marie-Tooth disease type 2O|Charcot-Marie-Tooth disease caused by mutation in DYNC1H1|autosomal dominant axonal Charcot-Marie-Tooth disease type 2O|Charcot-Marie-Tooth neuropathy axonal type 2O|CMT2O|Charcot-Marie-Tooth disease, axonal, type 20|Charcot-Marie-Tooth disease, axonal, type 2O|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2O|autosomal dominant Charcot-Marie-Tooth disease type 2O|DYNC1H1 Charcot-Marie-Tooth disease	http://purl.obolibrary.org/obo/MONDO_0013644	DOID:0110175|https://omim.org/entry/614228|UMLS:C3280220|Orphanet:284232	ordo_disease
MONDO:0013645	biolink:Disease	autosomal recessive spinocerebellar ataxia 11	Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene.	OMIM:614229|DOID:0080063|UMLS:C3280226|Orphanet:284271	mondo.json	autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14|spinocerebellar ataxia, autosomal recessive 11|autosomal recessive cerebellar ataxia-psychomotor retardation syndrome|SCAR11|spinocerebellar ataxia, autosomal recessive type 11|autosomal recessive spinocerebellar ataxia 11|SYT14 autosomal recessive syndromic cerebellar ataxia|autosomal recessive spinocerebellar ataxia type 11	http://purl.obolibrary.org/obo/MONDO_0013645	Orphanet:284271|https://omim.org/entry/614229|UMLS:C3280226|DOID:0080063	ordo_disease
CHEBI:76870	biolink:ChemicalSubstance	EC 1.9.3.* (oxidoreductase acting on donor heme group, oxygen as acceptor) inhibitor	An EC 1.9.* (oxidoreductase acting on donor heme group) inhibitor that interferes with the action of any such enzyme using oxygen as acceptor (EC 1.9.3.*).		mondo.json	EC 1.9.3.* inhibitors|oxidoreductase acting on donor heme group, oxygen as acceptor (EC 1.9.3.*) inhibitors|oxidoreductase acting on donor heme group, oxygen as acceptor (EC 1.9.3.*) inhibitor|EC 1.9.3.* (oxidoreductase acting on donor heme group, oxygen as acceptor) inhibitors|EC 1.9.3.* inhibitor	http://purl.obolibrary.org/obo/CHEBI_76870		
OBO:ECTO_9000077	biolink:NamedThing	exposure to chlorine	An exposure to chlorine molecular entity.		mondo.json	exposure to chlorine molecular entity	http://purl.obolibrary.org/obo/ECTO_9000077		
MONDO:0001669	biolink:Disease	obsolete lung cancer			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001669		
HP:0009473	biolink:PhenotypicFeature	Joint contracture of the hand	Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.	UMLS:C0158113|SNOMEDCT_US:86414002|MEDDRA:10010821	mondo.json	Contractures of the hands|Contractures involving the hands	http://purl.obolibrary.org/obo/HP_0009473		hposlim_core
GO:1990625	biolink:NamedThing	negative regulation of cytoplasmic translational initiation in response to stress	Any process that stops, prevents or reduces the rate of cytoplasmic translation initiation as a result of a stimulus indicating the organism is under stress.		mondo.json		http://purl.obolibrary.org/obo/GO_1990625		
GO:1902018	biolink:NamedThing	negative regulation of cilium assembly	Any process that stops, prevents or reduces the frequency, rate or extent of cilium assembly.		mondo.json	negative regulation of cilium biogenesis|down-regulation of cilium biogenesis|downregulation of ciliogenesis|down regulation of cilium biogenesis|down regulation of ciliogenesis|down-regulation of cilium assembly|downregulation of cilium biogenesis|negative regulation of ciliogenesis|down-regulation of ciliogenesis|down regulation of cilium assembly|inhibition of cilium assembly|downregulation of cilium assembly|inhibition of ciliogenesis|inhibition of cilium biogenesis	http://purl.obolibrary.org/obo/GO_1902018		
GO:1902019	biolink:NamedThing	regulation of cilium-dependent cell motility	Any process that modulates the frequency, rate or extent of cilium-dependent cell motility.		mondo.json	regulation of cilium cell motility|regulation of ciliary cell motility	http://purl.obolibrary.org/obo/GO_1902019		
HGNC:7717	biolink:NamedThing	NDUFV2			mondo.json		http://identifiers.org/hgnc/7717		
GO:1902017	biolink:NamedThing	regulation of cilium assembly	Any process that modulates the frequency, rate or extent of cilium assembly.		mondo.json	regulation of ciliogenesis|regulation of cilium biogenesis	http://purl.obolibrary.org/obo/GO_1902017		
HGNC:592	biolink:NamedThing	XIAP			mondo.json		http://identifiers.org/hgnc/592		
GO:1904677	biolink:NamedThing	positive regulation of somatic stem cell division	Any process that activates or increases the frequency, rate or extent of somatic stem cell division.		mondo.json	upregulation of somatic stem cell renewal|up regulation of somatic stem cell division|up-regulation of somatic stem cell division|up-regulation of somatic stem cell renewal|activation of somatic stem cell division|up regulation of somatic stem cell renewal|positive regulation of somatic stem cell renewal|activation of somatic stem cell renewal|upregulation of somatic stem cell division	http://purl.obolibrary.org/obo/GO_1904677		
GO:1904676	biolink:NamedThing	negative regulation of somatic stem cell division	Any process that stops, prevents or reduces the frequency, rate or extent of somatic stem cell division.		mondo.json	negative regulation of somatic stem cell renewal|down-regulation of somatic stem cell renewal|down regulation of somatic stem cell renewal|downregulation of somatic stem cell division|downregulation of somatic stem cell renewal|inhibition of somatic stem cell renewal|down regulation of somatic stem cell division|inhibition of somatic stem cell division|down-regulation of somatic stem cell division	http://purl.obolibrary.org/obo/GO_1904676		
GO:1904675	biolink:NamedThing	regulation of somatic stem cell division	Any process that modulates the frequency, rate or extent of somatic stem cell division.		mondo.json	regulation of somatic stem cell renewal	http://purl.obolibrary.org/obo/GO_1904675		
HGNC:7720	biolink:NamedThing	NEB			mondo.json		http://identifiers.org/hgnc/7720		
GO:1902020	biolink:NamedThing	negative regulation of cilium-dependent cell motility	Any process that stops, prevents or reduces the frequency, rate or extent of cilium-dependent cell motility.		mondo.json	negative regulation of cilium cell motility|down-regulation of ciliary cell motility|down regulation of ciliary cell motility|negative regulation of ciliary cell motility|inhibition of ciliary cell motility|downregulation of ciliary cell motility	http://purl.obolibrary.org/obo/GO_1902020		
CHR:9606-chr8q21.1	biolink:NamedThing	8q21.1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr8q21.1		
CHEBI:50248	biolink:ChemicalSubstance	hematologic agent	Drug that acts on blood and blood-forming organs and those that affect the hemostatic system.		mondo.json	hematologic agents	http://purl.obolibrary.org/obo/CHEBI_50248		
CHEBI:50249	biolink:ChemicalSubstance	anticoagulant	An agent that prevents blood clotting.		mondo.json	anticoagulante|anticoagulants	http://purl.obolibrary.org/obo/CHEBI_50249		
HGNC:7728	biolink:NamedThing	NEDD4L			mondo.json		http://identifiers.org/hgnc/7728		
GO:1904689	biolink:NamedThing	negative regulation of cytoplasmic translational initiation	Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translational initiation.		mondo.json	downregulation of cytoplasmic translational initiation|down regulation of cytoplasmic translational initiation|inhibition of cytoplasmic translational initiation|down-regulation of cytoplasmic translational initiation	http://purl.obolibrary.org/obo/GO_1904689		
GO:1904688	biolink:NamedThing	regulation of cytoplasmic translational initiation	Any process that modulates the frequency, rate or extent of cytoplasmic translational initiation.		mondo.json		http://purl.obolibrary.org/obo/GO_1904688		
GO:1904690	biolink:NamedThing	positive regulation of cytoplasmic translational initiation	Any process that activates or increases the frequency, rate or extent of cytoplasmic translational initiation.		mondo.json	activation of cytoplasmic translational initiation|upregulation of cytoplasmic translational initiation|up regulation of cytoplasmic translational initiation|up-regulation of cytoplasmic translational initiation	http://purl.obolibrary.org/obo/GO_1904690		
ENVO:03600001	biolink:NamedThing	chemically contaminated sediment	Sediment which contains some chemical contaminant.		mondo.json		http://purl.obolibrary.org/obo/ENVO_03600001		
HGNC:7737	biolink:NamedThing	NEFH			mondo.json		http://identifiers.org/hgnc/7737		
HGNC:575	biolink:NamedThing	AP4S1			mondo.json		http://identifiers.org/hgnc/575		
HGNC:574	biolink:NamedThing	AP4M1			mondo.json		http://identifiers.org/hgnc/574		
HGNC:573	biolink:NamedThing	AP4E1			mondo.json		http://identifiers.org/hgnc/573		
HGNC:7739	biolink:NamedThing	NEFL			mondo.json		http://identifiers.org/hgnc/7739		
HGNC:572	biolink:NamedThing	AP4B1			mondo.json		http://identifiers.org/hgnc/572		
ENVO:01000617	biolink:NamedThing	lentic water body	A lentic water body is a water body in which the accumulated water, in its totality, has very little to no directed flow.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000617		
HGNC:7745	biolink:NamedThing	NEK2			mondo.json		http://identifiers.org/hgnc/7745		
HGNC:7744	biolink:NamedThing	NEK1			mondo.json		http://identifiers.org/hgnc/7744		
GO:0003943	biolink:NamedThing	N-acetylgalactosamine-4-sulfatase activity	Catalysis of the hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate.		mondo.json	chondroitinsulfatase|N-acetyl-D-galactosamine-4-sulfate 4-sulfohydrolase activity|N-acetylgalactosamine-4-sulphatase activity|acetylgalactosamine 4-sulfatase activity|arylsulfatase B|N-acetylgalactosamine 4-sulfate sulfohydrolase activity	http://purl.obolibrary.org/obo/GO_0003943		
GO:0003940	biolink:NamedThing	L-iduronidase activity	Catalysis of the hydrolysis of alpha-L-iduronosidic linkages in dermatan sulfate.		mondo.json	alpha-L-iduronidase activity|glycosaminoglycan alpha-L-iduronohydrolase activity	http://purl.obolibrary.org/obo/GO_0003940		
GO:0015929	biolink:NamedThing	hexosaminidase activity	Catalysis of the cleavage of hexosamine or N-acetylhexosamine residues (e.g. N-acetylglucosamine) residues from gangliosides or other glycoside oligosaccharides.		mondo.json		http://purl.obolibrary.org/obo/GO_0015929		
HGNC:583	biolink:NamedThing	APC			mondo.json		http://identifiers.org/hgnc/583		
HGNC:582	biolink:NamedThing	APBB2			mondo.json		http://identifiers.org/hgnc/582		
GO:0015925	biolink:NamedThing	galactosidase activity	Catalysis of the hydrolysis of galactosyl compounds, substances containing a group derived from a cyclic form of galactose or a galactose derivative.		mondo.json		http://purl.obolibrary.org/obo/GO_0015925		
GO:0015926	biolink:NamedThing	glucosidase activity	Catalysis of the hydrolysis of glucosyl compounds, substances containing a group derived from a cyclic form of glucose or a glucose derivative.		mondo.json		http://purl.obolibrary.org/obo/GO_0015926		
GO:0015927	biolink:NamedThing	trehalase activity	Catalysis of the hydrolysis of trehalose or a trehalose derivative.		mondo.json		http://purl.obolibrary.org/obo/GO_0015927		
GO:0015923	biolink:NamedThing	mannosidase activity	Catalysis of the hydrolysis of mannosyl compounds, substances containing a group derived from a cyclic form of mannose or a mannose derivative.		mondo.json		http://purl.obolibrary.org/obo/GO_0015923		
HGNC:7758	biolink:NamedThing	NEU1			mondo.json		http://identifiers.org/hgnc/7758		
HGNC:559	biolink:NamedThing	AP1S1			mondo.json		http://identifiers.org/hgnc/559		
MONDO:0001602	biolink:Disease	labia minora carcinoma	A carcinoma that arises from the labia minora.	NCIT:C9364|UMLS:C1334357|DOID:1293	mondo.json	carcinoma of labia minora|labia minora carcinoma|labia minora cancer|carcinoma of the labia minora|carcinoma of labium minora|labium minora carcinoma	http://purl.obolibrary.org/obo/MONDO_0001602	UMLS:C1334357|NCIT:C9364|DOID:1293	
MONDO:0001601	biolink:Disease	Plasmodium ovale malaria	An malaria caused by infection with Plasmodium ovale.	SCTID:19341001|DOID:12919|ICD9:084.3|ICD10CM:B53.0|UMLS:C0152072	mondo.json	ovale malaria|Malariaby Plasmodium ovale	http://purl.obolibrary.org/obo/MONDO_0001601	DOID:12919|UMLS:C0152072|http://identifiers.org/snomedct/19341001|http://purl.bioontology.org/ontology/ICD10CM/B53.0	
MONDO:0001600	biolink:Disease	mucocele of salivary gland	A benign cyst located in the salivary gland that is lined by epithelium and filled with mucoid fluid, tissue, or other material; it is usually caused by duct obstruction.	ICD9:527.6|DOID:12904|UMLS:C2242813|SCTID:69825009|ICD10CM:K11.6|UMLS:C0026686|MESH:D011900	mondo.json	mucous retention cyst of salivary gland|ranula|salivary cyst|salivary gland mucocele	http://purl.obolibrary.org/obo/MONDO_0001600	http://identifiers.org/snomedct/69825009|DOID:12904|UMLS:C0026686|UMLS:C2242813|http://identifiers.org/mesh/D011900|http://purl.bioontology.org/ontology/ICD10CM/K11.6	
UBERON:0010223	biolink:AnatomicalEntity	left pupil			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010223		
UBERON:0010224	biolink:AnatomicalEntity	right pupil			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010224		
UBERON:0010221	biolink:AnatomicalEntity	laryngeal associated mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010221		
UBERON:0010222	biolink:AnatomicalEntity	anatomical line between pupils			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010222		
HGNC:7765	biolink:NamedThing	NF1			mondo.json		http://identifiers.org/hgnc/7765		
HGNC:5102	biolink:NamedThing	HOXA13			mondo.json		http://identifiers.org/hgnc/5102		
HGNC:5103	biolink:NamedThing	HOXA2			mondo.json		http://identifiers.org/hgnc/5103		
GO:1902064	biolink:NamedThing	obsolete regulation of transcription from RNA polymerase II promoter involved in spermatogenesis	OBSOLETE. Any regulation of transcription from RNA polymerase II promoter that is involved in spermatogenesis.		mondo.json	regulation of transcription from Pol II promoter involved in generation of spermatozoa|regulation of transcription from RNA polymerase II promoter, global involved in generation of spermatozoa|regulation of gene-specific transcription from RNA polymerase II promoter involved in spermatogenesis|regulation of global transcription from Pol II promoter involved in spermatogenesis|regulation of transcription from RNA polymerase II promoter involved in generation of spermatozoa|regulation of transcription from Pol II promoter involved in spermatogenesis|regulation of transcription from RNA polymerase II promoter, global involved in spermatogenesis|global transcription regulation from Pol II promoter involved in generation of spermatozoa|regulation of gene-specific transcription from RNA polymerase II promoter involved in generation of spermatozoa|global transcription regulation from Pol II promoter involved in spermatogenesis|regulation of global transcription from Pol II promoter involved in generation of spermatozoa	http://purl.obolibrary.org/obo/GO_1902064		
HGNC:7762	biolink:NamedThing	NEUROD1			mondo.json		http://identifiers.org/hgnc/7762		
HGNC:5101	biolink:NamedThing	HOXA11			mondo.json		http://identifiers.org/hgnc/5101		
HGNC:568	biolink:NamedThing	AP3D1			mondo.json		http://identifiers.org/hgnc/568		
HGNC:567	biolink:NamedThing	AP3B2			mondo.json		http://identifiers.org/hgnc/567		
MONDO:0001613	biolink:Disease	vertebrobasilar insufficiency	Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the brain stem; cerebellum; occipital lobe; medial temporal lobe; and thalamus. Characteristic clinical features include syncope; lightheadedness; visual disturbances; and vertigo. brain stem infarctions or other brain infarction may be associated.	DOID:13003|UMLS:C0042568|EFO:1001449|MESH:D014715|SCTID:195199008|SCTID:64009001|ICD9:435.3	mondo.json	vertebrobasilar insufficiency|vertebrobasilar artery syndrome|vertebrobasilar arterial insufficiency|vertebro-basilar insufficiency	http://purl.obolibrary.org/obo/MONDO_0001613	http://identifiers.org/mesh/D014715|UMLS:C0042568|DOID:13003|http://identifiers.org/snomedct/195199008	
HGNC:566	biolink:NamedThing	AP3B1			mondo.json		http://identifiers.org/hgnc/566		
MONDO:0001612	biolink:Disease	carotid stenosis	A narrowing of the carotid artery lumen. It is usually caused by the formation of an atherosclerotic plaque. Symptoms are usually present when there is severe narrowing or obstruction of the arterial lumen and manifest as ischemic cerebrovascular accidents.	HP:0100546|DOID:13001|SCTID:64586002|NCIT:C95804|UMLS:C0007282|ICD9:433.10|MESH:D016893	mondo.json	stenosis, carotid artery|carotid artery stenosis	http://purl.obolibrary.org/obo/MONDO_0001612	http://identifiers.org/snomedct/64586002|http://identifiers.org/mesh/D016893|NCIT:C95804|DOID:13001|UMLS:C0007282	
HGNC:565	biolink:NamedThing	AP2S1			mondo.json		http://identifiers.org/hgnc/565		
MONDO:0001611	biolink:Disease	phlegmonous dacryocystitis		ICD10CM:H04.31|SCTID:64324003|ICD9:375.33|DOID:12997|UMLS:C0155238	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001611	http://purl.bioontology.org/ontology/ICD10CM/H04.31|http://identifiers.org/snomedct/64324003|UMLS:C0155238|DOID:12997	
MONDO:0001610	biolink:Disease	acute dacryocystitis	Acute form of dacryocystitis.	ICD9:375.32|SCTID:25470000|DOID:12996|UMLS:C0155237	mondo.json	dacryocystitis - acute|dacryocystitis, acute	http://purl.obolibrary.org/obo/MONDO_0001610	http://identifiers.org/snomedct/25470000|UMLS:C0155237|DOID:12996	
UBERON:0010212	biolink:AnatomicalEntity	laryngeal apparatus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010212		
UBERON:0010213	biolink:AnatomicalEntity	laryngeal pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010213		
CHEBI:37246	biolink:ChemicalSubstance	elemental sodium			mondo.json		http://purl.obolibrary.org/obo/CHEBI_37246		
UBERON:0010204	biolink:AnatomicalEntity	tail vasculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010204		
MONDO:0001606	biolink:Disease	central nervous system leukemia	Leukemia infiltrating the central nervous system structures.	NCIT:C5440|UMLS:C1332884|DOID:12969	mondo.json	CNS leukemia|leukemia (disease) of central nervous system|central nervous system leukemia|central nervous system leukemia (disease)|leukemia of the CNS|leukemia of CNS|leukemia of central nervous system|leukemia of the central nervous system	http://purl.obolibrary.org/obo/MONDO_0001606	NCIT:C5440|DOID:12969|UMLS:C1332884	
MONDO:0001605	biolink:Disease	obsolete MONDO:0001605			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001605		
MONDO:0001604	biolink:Disease	lagophthalmos		ICD10CM:H02.2|ICD9:374.2|DOID:12959|UMLS:C0152226|ICD9:374.20|SCTID:60735000	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001604	DOID:12959|UMLS:C0152226|http://identifiers.org/snomedct/60735000|http://purl.bioontology.org/ontology/ICD10CM/H02.2	
MONDO:0001603	biolink:Disease	paralytic lagophthalmos		UMLS:C0155197|ICD9:374.21|DOID:12958|HP:0030003	mondo.json	paralytic lagophthalmos|paralytic lagophthalmos (disease)	http://purl.obolibrary.org/obo/MONDO_0001603	DOID:12958|UMLS:C0155197	
MONDO:0001609	biolink:Disease	agranulocytosis	A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood.	DOID:12987|SCTID:417672002|GARD:0006545|ICD9:288.8|ICD10CM:D70|ICD10WHO:D70|NCIT:C2863|MESH:D000380|UMLS:C0001824	mondo.json	Granulocytopenic disorder|granulocytopenia|Granulopenia	http://purl.obolibrary.org/obo/MONDO_0001609	DOID:12987|https://icd.who.int/browse10/2019/en#/D70|NCIT:C2863|http://identifiers.org/mesh/D000380|http://identifiers.org/snomedct/417672002|UMLS:C0001824|http://purl.bioontology.org/ontology/ICD10CM/D70	
MONDO:0001608	biolink:Disease	vagus nerve neoplasm	A neoplasm involving a vagus nerve.	ICD9:239.7|UMLS:C1263901|DOID:12984|SCTID:126976007|NCIT:C5831	mondo.json	neoplasm of the Vagus nerve|neoplasm of the tenth cranial nerve|neoplasm of Vagus nerve|tenth cranial nerve neoplasm|vagus nerve neoplasm (disease)|Vagus nerve neoplasm|neoplasm of tenth cranial nerve|Vagus nerve tumor|tenth cranial nerve tumor|tenth cranial nerve tumors|Vagus nerve neoplasms|tenth cranial nerve neoplasms|neoplasm of vagus nerve|vagus nerve tumor|tumor of the Vagus nerve|tumor of Vagus nerve|tumor of the tenth cranial nerve|tumor of tenth cranial nerve|Vagus nerve tumors|Xth cranial nerve neoplasms|Xth cranial nerve tumors|tumor of vagus nerve	http://purl.obolibrary.org/obo/MONDO_0001608	DOID:12984|UMLS:C1263901|NCIT:C5831|http://identifiers.org/snomedct/126976007	
HGNC:5111	biolink:NamedThing	HOXB1			mondo.json		http://identifiers.org/hgnc/5111		
MONDO:0001607	biolink:Disease	intrapelvic lymph node leukemic reticuloendotheliosis		ICD9:202.46|DOID:12972|UMLS:C0153831|SCTID:93145002	mondo.json	leukemic reticuloendotheliosis involving intrapelvic lymph nodes|leukemic reticuloendotheliosis of intrapelvic lymph nodes	http://purl.obolibrary.org/obo/MONDO_0001607	DOID:12972|UMLS:C0153831|http://identifiers.org/snomedct/93145002	
HGNC:7773	biolink:NamedThing	NF2			mondo.json		http://identifiers.org/hgnc/7773		
HGNC:5125	biolink:NamedThing	HOXC13			mondo.json		http://identifiers.org/hgnc/5125		
HGNC:7788	biolink:NamedThing	NFIX			mondo.json		http://identifiers.org/hgnc/7788		
HGNC:26392	biolink:NamedThing	PTCHD1			mondo.json		http://identifiers.org/hgnc/26392		
UBERON:0009210	biolink:AnatomicalEntity	pharyngeal membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009210		
UBERON:0009213	biolink:AnatomicalEntity	pharyngeal membrane of 1st arch			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009213		
HGNC:7784	biolink:NamedThing	NFIA			mondo.json		http://identifiers.org/hgnc/7784		
CHEBI:25248	biolink:ChemicalSubstance	methyl ester	Any carboxylic ester resulting from the formal condensation of a carboxy group with methanol.		mondo.json	carboxylic acid methyl esters|carboxylic acid methyl ester	http://purl.obolibrary.org/obo/CHEBI_25248		
HGNC:543	biolink:NamedThing	ANXA5			mondo.json		http://identifiers.org/hgnc/543		
GO:1902098	biolink:NamedThing	calcitriol binding	Binding to calcitriol. Calcitriol (1,25-dihydroxycholecalciferol) is the hormonally active form of vitamin D3.		mondo.json	hormonally active vitamin D3 binding|1alpha,25-dihydroxyvitamin D3 binding|1alpha,25-dihydroxycholecalciferol binding|1,25-dihydroxyvitamin D3 binding|1alpha,25(OH)2D3 binding|1alpha,25(OH)2 vitamin D3 binding|1,25-dihydroxycholecalciferol binding	http://purl.obolibrary.org/obo/GO_1902098		
UBERON:0009205	biolink:AnatomicalEntity	lateral nasal process mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009205		
HGNC:5136	biolink:NamedThing	HOXD13			mondo.json		http://identifiers.org/hgnc/5136		
UBERON:0009206	biolink:AnatomicalEntity	lateral nasal process surface ectoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009206		
HGNC:7797	biolink:NamedThing	NFKBIA			mondo.json		http://identifiers.org/hgnc/7797		
GO:1902093	biolink:NamedThing	positive regulation of flagellated sperm motility	Any process that activates or increases the frequency, rate or extent of flagellated sperm motility.		mondo.json	up regulation of sperm motility|up-regulation of sperm motility|activation of sperm movement|upregulation of sperm movement|activation of sperm motility|positive regulation of sperm movement|up regulation of sperm movement|upregulation of sperm motility|up-regulation of sperm movement|positive regulation of sperm motility	http://purl.obolibrary.org/obo/GO_1902093		
UBERON:0009200	biolink:AnatomicalEntity	limb epidermis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009200		
HGNC:7794	biolink:NamedThing	NFKB1			mondo.json		http://identifiers.org/hgnc/7794		
UBERON:0009201	biolink:AnatomicalEntity	nephric duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009201		
HGNC:5133	biolink:NamedThing	HOXD10			mondo.json		http://identifiers.org/hgnc/5133		
HGNC:7795	biolink:NamedThing	NFKB2			mondo.json		http://identifiers.org/hgnc/7795		
UBERON:0009204	biolink:AnatomicalEntity	medial nasal process mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009204		
ENVO:01000554	biolink:NamedThing	hydrocarbon gas	A gas that is primarily composed of hydrocarbon molecules.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000554		
CL:0000127	biolink:Cell	astrocyte	A class of large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from 'star' cells) are irregularly shaped with many long processes, including those with 'end feet' which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and 'reactive astrocytes' (along with microglia) respond to injury.	BTO:0000099|FMA:54537|CALOHA:TS-0060	mondo.json	astrocytic glia	http://purl.obolibrary.org/obo/CL_0000127		
HGNC:26498	biolink:NamedThing	ZNF513			mondo.json		http://identifiers.org/hgnc/26498		
CL:0000120	biolink:Cell	granule cell		BTO:0003393	mondo.json		http://purl.obolibrary.org/obo/CL_0000120		
CHR:9606-chr19	biolink:NamedThing	chromosome 19 (Human)			mondo.json	19	http://purl.obolibrary.org/obo/CHR_9606-chr19	http://identifiers.org/insdc/CM000681.2|http://identifiers.org/refseq/NC_000019.10	
CHR:9606-chr18	biolink:NamedThing	chromosome 18 (Human)			mondo.json	18	http://purl.obolibrary.org/obo/CHR_9606-chr18	http://identifiers.org/insdc/CM000680.2|http://identifiers.org/refseq/NC_000018.10	
CHR:9606-chr17	biolink:NamedThing	chromosome 17 (Human)			mondo.json	17	http://purl.obolibrary.org/obo/CHR_9606-chr17	http://identifiers.org/refseq/NC_000017.11|http://identifiers.org/insdc/CM000679.2	
CL:0000123	biolink:Cell	neuron associated cell (sensu Vertebrata)			mondo.json		http://purl.obolibrary.org/obo/CL_0000123		
CHR:9606-chr16	biolink:NamedThing	chromosome 16 (Human)			mondo.json	16	http://purl.obolibrary.org/obo/CHR_9606-chr16	http://identifiers.org/insdc/CM000678.2|http://identifiers.org/refseq/NC_000016.10	
CHR:9606-chr15	biolink:NamedThing	chromosome 15 (Human)			mondo.json	15	http://purl.obolibrary.org/obo/CHR_9606-chr15	http://identifiers.org/insdc/CM000677.2|http://identifiers.org/refseq/NC_000015.10	
CL:0000125	biolink:Cell	glial cell	A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Guide neuronal migration during development, and exchange metabolites with neurons.	CALOHA:TS-0415|BTO:0002606|FMA:54536	mondo.json	neuroglia|neuroglial cell	http://purl.obolibrary.org/obo/CL_0000125		
CHR:9606-chr14	biolink:NamedThing	chromosome 14 (Human)			mondo.json	14	http://purl.obolibrary.org/obo/CHR_9606-chr14	http://identifiers.org/refseq/NC_000014.9|http://identifiers.org/insdc/CM000676.2	
CL:0000126	biolink:Cell	macroglial cell	A neuroglial cell of ectodermal origin, i.e., the astrocytes and oligodendrocytes considered together.	BTO:0000771|CALOHA:TS-2027|FMA:54538	mondo.json	macrogliocyte	http://purl.obolibrary.org/obo/CL_0000126		
CHR:9606-chr13	biolink:NamedThing	chromosome 13 (Human)			mondo.json	13	http://purl.obolibrary.org/obo/CHR_9606-chr13	http://identifiers.org/refseq/NC_000013.11|http://identifiers.org/insdc/CM000675.2	
CHR:9606-chr12	biolink:NamedThing	chromosome 12 (Human)			mondo.json	12	http://purl.obolibrary.org/obo/CHR_9606-chr12	http://identifiers.org/refseq/NC_000012.12|http://identifiers.org/insdc/CM000674.2	
CHR:9606-chr11	biolink:NamedThing	chromosome 11 (Human)			mondo.json	11	http://purl.obolibrary.org/obo/CHR_9606-chr11	http://identifiers.org/refseq/NC_000011.10|http://identifiers.org/insdc/CM000673.2	
CHR:9606-chr10	biolink:NamedThing	chromosome 10 (Human)			mondo.json	10	http://purl.obolibrary.org/obo/CHR_9606-chr10	http://identifiers.org/insdc/CM000672.2|http://identifiers.org/refseq/NC_000010.11	
GO:0015893	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0015893		
GO:0052856	biolink:NamedThing	NADHX epimerase activity	Catalysis of the reaction: (R)-NADHX = (S)-NADHX.		mondo.json		http://purl.obolibrary.org/obo/GO_0052856		
ENVO:01000543	biolink:NamedThing	atmospheric layer	A layer that is part of the atmosphere.		mondo.json	atmospheric layering	http://purl.obolibrary.org/obo/ENVO_01000543		
ENVO:01000544	biolink:NamedThing	boundary layer	A boundary layer is a layer of fluid in the immediate vicinity of a bounding surface where the effects of viscosity are significant enough to distort the surrounding non-viscous flow.		mondo.json	boundary layer	http://purl.obolibrary.org/obo/ENVO_01000544		
CL:0000138	biolink:Cell	chondrocyte	Skeletogenic cell that is terminally differentiated, secretes an avascular, GAG-rich matrix, is embedded in cartilage tissue matrix, retains the ability to divide, and develops from a chondroblast cell.	CALOHA:TS-0138|FMA:66782|BTO:0000249	mondo.json	cartilage cell	http://purl.obolibrary.org/obo/CL_0000138		
CL:0000133	biolink:Cell	neurectodermal cell	Ectoderm destined to be nervous tissue.		mondo.json	neurectoderm cell	http://purl.obolibrary.org/obo/CL_0000133		
CL:0000134	biolink:Cell	mesenchymal stem cell	A connective tissue cell that normally gives rise to other cells that are organized as three-dimensional masses. In humans, this cell type is CD73-positive, CD90-positive, CD105-positive, CD45-negative, CD34-negative, and MHCII-negative. They may further differentiate into osteoblasts, adipocytes, myocytes, neurons, or chondroblasts in vitro. Originally described as residing in the bone marrow, this cell type is now known to reside in many, if not all, adult organs.	BTO:0003298|FMA:70546|BTO:0002625	mondo.json	colony-forming unit-fibroblast|MSC|BMSC|mesenchymal stromal cells|mesenchymal precursor cell|mesenchymal stem cell|mesenchymal stromal cell|mesenchymal progenitor cells|stem cells, mesenchymal|bone marrow stromal cells|marrow stromal cells|CFU-F	http://purl.obolibrary.org/obo/CL_0000134		
CL:0000136	biolink:Cell	fat cell	A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of triglycerides.	FMA:63880|CALOHA:TS-0012|BTO:0000443	mondo.json	adipocyte|adipose cell	http://purl.obolibrary.org/obo/CL_0000136		
CHR:9606-chr22	biolink:NamedThing	chromosome 22 (Human)			mondo.json	22	http://purl.obolibrary.org/obo/CHR_9606-chr22	http://identifiers.org/insdc/CM000684.2|http://identifiers.org/refseq/NC_000022.11	
CHR:9606-chr21	biolink:NamedThing	chromosome 21 (Human)			mondo.json	21	http://purl.obolibrary.org/obo/CHR_9606-chr21	http://identifiers.org/insdc/CM000683.2|http://identifiers.org/refseq/NC_000021.9	
CHR:9606-chr20	biolink:NamedThing	chromosome 20 (Human)			mondo.json	20	http://purl.obolibrary.org/obo/CHR_9606-chr20	http://identifiers.org/insdc/CM000682.2|http://identifiers.org/refseq/NC_000020.11	
MONDO:0023093	biolink:Disease	exertional headache		GARD:0010800	mondo.json	primary Exertional headache|primary headache associated with sexual activity	http://purl.obolibrary.org/obo/MONDO_0023093		gard_rare
MONDO:0023094	biolink:Disease	exogenous ochronosis	Exogenous ochronosis refers tothe bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due toexposure to various substances.It has been reported most commonly with topical application of hydroquinones to the skin. The discolorationmay becaused byan effect ontyrosinase(an enzyme located in melanocytes, which are skincells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria.	ICD9:270.2|SCTID:410041002|GARD:0010757|MESH:C531762	mondo.json	ocular ochronosis|pseudo-ochronosis|exogenous ochronosis|ochronosis, acquired	http://purl.obolibrary.org/obo/MONDO_0023094	http://identifiers.org/snomedct/410041002|http://identifiers.org/mesh/C531762	gard_rare
CL:0000108	biolink:Cell	cholinergic neuron	A neuron that uses acetylcholine as a vesicular neurotransmitter.	BTO:0004902|FMA:84796|WBbt:0006840	mondo.json		http://purl.obolibrary.org/obo/CL_0000108		
MONDO:0023097	biolink:Disease	obsolete exostoses anetodermia brachydactyly type E		UMLS:C1851428|GARD:0002202	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023097		gard_rare
MONDO:0023098	biolink:Disease	extrasystoles short stature hyperpigmentation microcephaly		GARD:0002213	mondo.json	Char douglas Dungan syndrome	http://purl.obolibrary.org/obo/MONDO_0023098		gard_rare
MONDO:0023099	biolink:Disease	FRAXD syndrome		GARD:0002377	mondo.json	FRAXD	http://purl.obolibrary.org/obo/MONDO_0023099		gard_rare
CL:0000100	biolink:Cell	motor neuron	An efferent neuron that passes from the central nervous system or a ganglion toward or to a muscle and conducts an impulse that causes or inhibits movement.	BTO:0000312|FMA:83617|WBbt:0005409	mondo.json	motoneuron	http://purl.obolibrary.org/obo/CL_0000100		
CL:0000101	biolink:Cell	sensory neuron	Any neuron having a sensory function; an afferent neuron conveying sensory impulses.	WBbt:0005759|BTO:0001037|FMA:84649|FBbt:00005124	mondo.json		http://purl.obolibrary.org/obo/CL_0000101		
GO:0015872	biolink:NamedThing	dopamine transport	The directed movement of dopamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Dopamine is a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline.		mondo.json		http://purl.obolibrary.org/obo/GO_0015872		
GO:0015874	biolink:NamedThing	norepinephrine transport	The directed movement of norepinephrine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Norepinephrine (3,4-dihydroxyphenyl-2-aminoethanol) is a hormone secreted by the adrenal medulla and a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS. It is also the biosynthetic precursor of epinephrine.		mondo.json	noradrenaline transport|levarterenol transport	http://purl.obolibrary.org/obo/GO_0015874		
CL:0000103	biolink:Cell	bipolar neuron	A type of interneuron that has two neurites, usually an axon and a dendrite, extending from opposite poles of an ovoid cell body.	FMA:67282	mondo.json		http://purl.obolibrary.org/obo/CL_0000103		BDS_subset
CL:0000104	biolink:Cell	multipolar neuron	A neuron with three or more neurites, usually an axon and multiple dendrites.	FMA:67287	mondo.json		http://purl.obolibrary.org/obo/CL_0000104		BDS_subset
MONDO:0023091	biolink:Disease	esophageal atresia coloboma talipes		GARD:0002196	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023091		gard_rare
CHR:9606-chr1q	biolink:NamedThing	1q (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr1q		
GO:0015870	biolink:NamedThing	acetylcholine transport	The directed movement of acetylcholine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Acetylcholine is an acetic acid ester of the organic base choline and functions as a neurotransmitter, released at the synapses of parasympathetic nerves and at neuromuscular junctions.		mondo.json		http://purl.obolibrary.org/obo/GO_0015870		
CHR:9606-chr1p	biolink:NamedThing	1p (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr1p		
MONDO:0023089	biolink:Disease	erythroplakia	A clinical term that refers to the presence of a red flat and well defined lesion on the oral mucosa that is not caused by trauma, vascular, or inflammatory processes. It is a precancerous condition and is seen more commonly in middle aged or older males. It is associated with tobacco and alcohol consumption. Microscopic examination reveals severe epithelial dysplasia, carcinoma in situ, or invasive squamous cell carcinoma.	UMLS:C0014818|GARD:0006378|NCIT:C3025|EFO:1001786	mondo.json	erythroplakia	http://purl.obolibrary.org/obo/MONDO_0023089	NCIT:C3025|UMLS:C0014818	gard_rare
CL:0000117	biolink:Cell	CNS neuron (sensu Vertebrata)			mondo.json		http://purl.obolibrary.org/obo/CL_0000117		
CL:0000118	biolink:Cell	basket cell	Basket cells are inhibitory GABAergic interneurons of the brain. In general, dendrites of basket cells are free branching and contain smooth spines. Axons are highly branched. The branched axonal arborizations give rise to basket-like structures that surround the soma of the target cell. Basket cells form axo-somatic synapses, meaning their synapses target somas of other cells.		mondo.json		http://purl.obolibrary.org/obo/CL_0000118		BDS_subset
MONDO:0023083	biolink:Disease	epimetaphyseal dysplasia cataract		GARD:0002175	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023083		gard_rare
CL:0000119	biolink:Cell	cerebellar Golgi cell	Large intrinsic neuron located in the granule layer of the cerebellar cortex that extends its dendrites into the molecular layer where they receive contact from parallel fibers. The axon of the Golgi cell ramifies densely in the granule layer and enters into a complex arrangement with mossy fiber terminals and granule cell dendrites to form the cerebellar glomerulus. Llinas, Walton and Lang. In The Synaptic Organization of the Brain. 5th ed. 2004.		mondo.json	Golgi cell|cerebellum Golgi cell|cerebellar Golgi neuron|Golgi neuron	http://purl.obolibrary.org/obo/CL_0000119		
MONDO:0023084	biolink:Disease	epiphyseal dysplasia dysmorphism camptodactyly		GARD:0002177	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023084		gard_rare
GO:0015888	biolink:NamedThing	thiamine transport	The directed movement of thiamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Thiamine is vitamin B1, a water soluble vitamin present in fresh vegetables and meats, especially liver.		mondo.json	thiamin transport|vitamin B1 transport	http://purl.obolibrary.org/obo/GO_0015888		
GO:0015889	biolink:NamedThing	cobalamin transport	The directed movement of cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	vitamin B12 transport	http://purl.obolibrary.org/obo/GO_0015889		
CL:0000114	biolink:Cell	surface ectodermal cell		FMA:72552	mondo.json	cell of surface ectoderm|surface ectoderm cell	http://purl.obolibrary.org/obo/CL_0000114		
CL:0000115	biolink:Cell	endothelial cell	An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal. In mammals, endothelial cell has vimentin filaments and is derived from the mesoderm.	FMA:66772|BTO:0001176|CALOHA:TS-0278	mondo.json	endotheliocyte	http://purl.obolibrary.org/obo/CL_0000115		
CHEBI:50183	biolink:ChemicalSubstance	P450 inhibitor	An enzyme inhibitor that interferes with the activity of cytochrome P450 involved in catalysis of organic substances.		mondo.json	P450 inhibitors|cytochrome P450 inhibitors|CYP2D6 inhibitor|CYP2D6 inhbitor|CYP2D6 inhbitors|CYP2D6 inhibitors|cytochrome P450 inhibitor	http://purl.obolibrary.org/obo/CHEBI_50183		
CHR:9606-chr2q	biolink:NamedThing	2q (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr2q		
CHR:9606-chr2p	biolink:NamedThing	2p (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr2p		
GO:0001216	biolink:NamedThing	DNA-binding transcription activator activity	A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets.		mondo.json	transcriptional activator activity, bacterial-type RNA polymerase core promoter proximal region sequence-specific binding|sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in positive regulation of transcription|bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding|transcriptional activator activity, bacterial-type RNA polymerase proximal promoter sequence-specific DNA binding|bacterial-type RNA polymerase core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|bacterial-type RNA polymerase transcriptional activator activity, metal ion regulated sequence-specific DNA binding|metal ion regulated sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in positive regulation of transcription	http://purl.obolibrary.org/obo/GO_0001216		
GO:0003872	biolink:NamedThing	6-phosphofructokinase activity	Catalysis of the reaction: ATP + D-fructose-6-phosphate = ADP + D-fructose 1,6-bisphosphate.		mondo.json	nucleotide triphosphate-dependent phosphofructokinase activity|phosphohexokinase activity|PFK|6-phosphofructokinase reduction|phosphofructokinase I activity|phospho-1,6-fructokinase activity|fructose 6-phosphokinase activity|D-fructose-6-phosphate 1-phosphotransferase activity|phosphofructokinase (phosphorylating)|ATP:D-fructose-6-phosphate 1-phosphotransferase activity|ATP-dependent phosphofructokinase activity|6-phosphofructose 1-kinase activity|fructose 6-phosphate kinase activity	http://purl.obolibrary.org/obo/GO_0003872		
UBERON:0000930	biolink:AnatomicalEntity	stomodeum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000930		
UBERON:0000931	biolink:AnatomicalEntity	proctodeum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000931		
UBERON:0000933	biolink:AnatomicalEntity	pharyngeal muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000933		
GO:0015850	biolink:NamedThing	organic hydroxy compound transport	The directed movement of an organic hydroxy compound (organic alcohol) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. An organic hydroxy compound is an organic compound having at least one hydroxy group attached to a carbon atom.		mondo.json	organic alcohol transport	http://purl.obolibrary.org/obo/GO_0015850		
GO:0001217	biolink:NamedThing	DNA-binding transcription repressor activity	A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets.		mondo.json	transcriptional repressor activity, bacterial-type RNA polymerase proximal promoter sequence-specific DNA binding|bacterial-type DNA binding transcription repressor activity|metal ion regulated sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in negative regulation of transcription|bacterial-type RNA polymerase core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcriptional repressor activity, bacterial-type RNA polymerase core promoter proximal region sequence-specific binding|copper ion regulated sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in negative regulation of transcription|bacterial-type RNA polymerase transcriptional repressor activity, copper ion regulated sequence-specific DNA binding|cadmium ion regulated sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in negative regulation of transcription|sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in negative regulation of transcription|bacterial-type RNA polymerase transcriptional repressor activity, sequence-specific DNA binding|bacterial-type RNA polymerase transcriptional repressor activity, cadmium ion regulated sequence-specific DNA binding|bacterial-type RNA polymerase transcriptional repressor activity, metal ion regulated sequence-specific DNA binding	http://purl.obolibrary.org/obo/GO_0001217		
CHEBI:50177	biolink:ChemicalSubstance	dermatologic drug	A drug used to treat or prevent skin disorders or for the routine care of skin.		mondo.json	dermatological agent|dermatologic agent|dermatologic drugs	http://purl.obolibrary.org/obo/CHEBI_50177		
CHEBI:50176	biolink:ChemicalSubstance	keratolytic drug	A drug that softens, separates, and causes desquamation of the cornified epithelium or horny layer of skin. Keratolytic drugs are used to expose mycelia of infecting fungi or to treat corns, warts, and certain other skin diseases.		mondo.json	skin-peeling agent|desquamating agent|keratolytic agent|keratolytic drugs	http://purl.obolibrary.org/obo/CHEBI_50176		
UBERON:0000923	biolink:AnatomicalEntity	germ layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000923		
UBERON:0000924	biolink:AnatomicalEntity	ectoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000924		
UBERON:0000925	biolink:AnatomicalEntity	endoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000925		
GO:0001227	biolink:NamedThing	DNA-binding transcription repressor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II.		mondo.json	transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding|transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding|metal ion regulated sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|sequence-specific distal enhancer binding RNA polymerase II transcription factor activity involved in negative regulation of transcription|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|distal enhancer DNA-binding transcription repressor activity, RNA polymerase II-specific|RNA polymerase II transcriptional repressor activity, metal ion regulated proximal promoter sequence-specific DNA binding|RNA polymerase II transcriptional repressor activity, metal ion regulated core promoter proximal region sequence-specific binding|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|RNA polymerase II distal enhancer sequence-specific DNA-binding transcription factor activity involved in negative regulation of transcription|transcriptional repressor activity, metal ion regulated sequence-specific DNA binding|transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding|metal ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity involved in negative regulation of transcription	http://purl.obolibrary.org/obo/GO_0001227		
UBERON:0000926	biolink:AnatomicalEntity	mesoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000926		
UBERON:0000922	biolink:AnatomicalEntity	embryo			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000922		
UBERON:0000929	biolink:AnatomicalEntity	pharyngeal branch of vagus nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000929		
MONDO:0035075	biolink:Disease	secondary early-onset glaucoma of genetic origin		Orphanet:522580	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035075	Orphanet:522580	ordo_group_of_disorders
GO:0001228	biolink:NamedThing	DNA-binding transcription activator activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II.		mondo.json	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding|RNA polymerase II transcriptional activator activity, metal ion regulated proximal promoter sequence-specific DNA binding|transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific DNA binding|RNA polymerase II transcriptional activator activity, zinc ion regulated proximal promoter sequence-specific DNA binding|RNA polymerase II transcriptional activator activity, metal ion regulated core promoter proximal region sequence-specific binding|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcriptional activator activity, zinc ion regulated core promoter proximal region sequence-specific binding|distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific|zinc ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity involved in positive regulation of transcription|RNA polymerase II distal enhancer sequence-specific DNA-binding transcription factor activity involved in positive regulation of transcription|transcriptional activator activity, metal ion regulated sequence-specific DNA binding|metal ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity involved in positive regulation of transcription|proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|copper ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity involved in positive regulation of transcription|transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding|sequence-specific distal enhancer binding RNA polymerase II transcription factor activity involved in positive regulation of transcription|metal ion regulated sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcriptional activator activity, copper ion regulated proximal promoter sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding	http://purl.obolibrary.org/obo/GO_0001228		
UBERON:0000912	biolink:AnatomicalEntity	mucus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000912		
UBERON:0000913	biolink:AnatomicalEntity	interstitial fluid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000913		
UBERON:0000915	biolink:AnatomicalEntity	thoracic segment of trunk			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000915		
CHEBI:25196	biolink:ChemicalSubstance	mercury molecular entity			mondo.json	mercury molecular entities|mercury compounds	http://purl.obolibrary.org/obo/CHEBI_25196		
GO:1904659	biolink:NamedThing	glucose transmembrane transport	The process in which glucose is transported across a membrane.		mondo.json	glucose transport	http://purl.obolibrary.org/obo/GO_1904659		
CHEBI:25195	biolink:ChemicalSubstance	mercury atom			mondo.json	mercury|Quecksilber|azogue|liquid silver|mercure|Hg|mercurio|quicksilver|hydrargyrum|mercury|80Hg	http://purl.obolibrary.org/obo/CHEBI_25195		
UBERON:0000916	biolink:AnatomicalEntity	abdomen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000916		
GO:0015837	biolink:NamedThing	amine transport	The directed movement of amines, including polyamines, organic compounds containing one or more amino groups, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	amine/polyamine transport	http://purl.obolibrary.org/obo/GO_0015837		
CHEBI:49169	biolink:ChemicalSubstance	D-dopa	The D-enantiomer of dopa.		mondo.json	(+)-3-(3,4-dihydroxyphenyl)alanine|D-3,4-dihydroxyphenylalanine|dopa D-form|(+)-3,4-dihydroxyphenylalanine|3-hydroxy-D-tyrosine|(2R)-2-amino-3-(3,4-dihydroxyphenyl)propanoic acid|D-dopa|3,4-dihydroxy-D-phenylalanine|D-3-(3,4-dihydroxyphenyl)alanine	http://purl.obolibrary.org/obo/CHEBI_49169		
CHEBI:49168	biolink:ChemicalSubstance	dopa	A hydroxyphenylalanine carrying hydroxy substituents at positions 3 and 4 of the benzene ring.		mondo.json	dl-beta-(3,4-dihydroxyphenyl)-alpha-alanine|3-hydroxytyrosine|DL-3,4-dopa|dopa|(R,S)-dopa|3-hydroxy-DL-tyrosine|DL-dioxyphenylalanine|DL-dihydroxyphenylalanine|DL-beta-(3,4-dihydroxyphenyl)alanine|(+-)-3-(3,4-dihydroxyphenyl)alanine|beta-(3,4-dihydroxyphenyl)-DL-alpha-alanine|(+-)-dopa|3',4'-dihydroxyphenylalanine|2-amino-3-(3,4-dihydroxyphenyl)propanoic acid	http://purl.obolibrary.org/obo/CHEBI_49168		
GO:0015833	biolink:NamedThing	peptide transport	The directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0015833		
HGNC:7703	biolink:NamedThing	NDUFB8			mondo.json		http://identifiers.org/hgnc/7703		
HGNC:7704	biolink:NamedThing	NDUFB9			mondo.json		http://identifiers.org/hgnc/7704		
CHEBI:37175	biolink:ChemicalSubstance	organic hydride			mondo.json	organic hydrides	http://purl.obolibrary.org/obo/CHEBI_37175		
CHEBI:37176	biolink:ChemicalSubstance	mononuclear parent hydride			mondo.json	mononuclear hydrides|mononuclear parent hydrides|mononuclear hydride	http://purl.obolibrary.org/obo/CHEBI_37176		
HGNC:14450	biolink:NamedThing	LPIN2			mondo.json		http://identifiers.org/hgnc/14450		
GO:0003867	biolink:NamedThing	4-aminobutyrate transaminase activity	Catalysis of the reaction: 4-aminobutanoate + amino group acceptor = succinate semialdehyde + amino acid.		mondo.json	gamma-aminobutyrate aminotransaminase activity|gamma-aminobutyric acid aminotransferase activity|gamma-aminobutyric acid transaminase activity|gamma-aminobutyrate transaminase activity|glutamate-succinic semialdehyde transaminase activity|4-aminobutyric acid aminotransferase activity|4-aminobutyrate aminotransferase activity|4-aminobutanoate transaminase activity|gamma-amino-N-butyrate transaminase activity|gamma-aminobutyric transaminase activity|GABA transaminase activity|GABA aminotransferase activity|GABA transferase activity|aminobutyrate transaminase activity|aminobutyrate aminotransferase activity|beta-alanine aminotransferase	http://purl.obolibrary.org/obo/GO_0003867		
HGNC:7707	biolink:NamedThing	NDUFS1			mondo.json		http://identifiers.org/hgnc/7707		
HGNC:7708	biolink:NamedThing	NDUFS2			mondo.json		http://identifiers.org/hgnc/7708		
HGNC:26444	biolink:NamedThing	UROC1			mondo.json		http://identifiers.org/hgnc/26444		
GO:0015849	biolink:NamedThing	organic acid transport	The directed movement of organic acids, any acidic compound containing carbon in covalent linkage, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0015849		
HGNC:7710	biolink:NamedThing	NDUFS3			mondo.json		http://identifiers.org/hgnc/7710		
GO:0015844	biolink:NamedThing	monoamine transport	The directed movement of monoamines, organic compounds that contain one amino group that is connected to an aromatic ring by an ethylene group (-CH2-CH2-), into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0015844		
HGNC:7711	biolink:NamedThing	NDUFS4			mondo.json		http://identifiers.org/hgnc/7711		
HGNC:7714	biolink:NamedThing	NDUFS7			mondo.json		http://identifiers.org/hgnc/7714		
HGNC:14468	biolink:NamedThing	SLC26A8			mondo.json		http://identifiers.org/hgnc/14468		
HGNC:7713	biolink:NamedThing	NDUFS6			mondo.json		http://identifiers.org/hgnc/7713		
HGNC:7716	biolink:NamedThing	NDUFV1			mondo.json		http://identifiers.org/hgnc/7716		
HGNC:7715	biolink:NamedThing	NDUFS8			mondo.json		http://identifiers.org/hgnc/7715		
MONDO:0023035	biolink:Disease	Eagle syndrome	Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. 'Classic Eagle syndrome' is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling that there is something stuck in the throat, tinnitus, and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery). This form can cause headache. Eagle syndrome is due to a calcified stylohyoid ligament or an elongated styloid process. The styloid process is a pointed part of the temporal bone that serves as an anchor point for several muscles associated with the tongue and larynx. The mainstay treatment for Eagle syndrome is surgery to shorten the styloid process (styloidectomy). Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or steroids. The overall success rate for treatment (medical or surgical) is about 80%.	ICD9:733.99|MESH:C538010|SCTID:609143007|GARD:0009401	mondo.json	elongated styloid process which causes cervico facial pain tinnitus and otalgia|styloid-stylohoid syndrome|Eagle's syndrome|elongated styloid process syndrome	http://purl.obolibrary.org/obo/MONDO_0023035	http://identifiers.org/mesh/C538010|http://identifiers.org/snomedct/609143007	gard_rare
CHR:9606-chr8q	biolink:NamedThing	8q (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr8q		
MONDO:0025699	biolink:Disease	Coffin-Siris syndrome 12		OMIM:619325	mondo.json	CSS12	http://purl.obolibrary.org/obo/MONDO_0025699	https://omim.org/entry/619325	
CHR:9606-chr8p	biolink:NamedThing	8p (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr8p		
MONDO:0023037	biolink:Disease	obsolete elongated styloid process syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0023037		
MONDO:0023038	biolink:Disease	eccentrochondrodysplasia		UMLS:C0026707|GARD:0006314	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023038		gard_rare
MONDO:0023039	biolink:Disease	eccrine mucinous carcinoma		UMLS:C0346020|GARD:0010465	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023039	UMLS:C0346020	gard_rare
OBO:ECTO_9000172	biolink:NamedThing	exposure to inorganic compound	An exposure to inorganic molecular entity.		mondo.json	exposure to inorganic molecular entity	http://purl.obolibrary.org/obo/ECTO_9000172		
OBO:ECTO_9000171	biolink:NamedThing	exposure to acetate	An exposure to acetate.		mondo.json	exposure to acetate	http://purl.obolibrary.org/obo/ECTO_9000171		
MONDO:0025691	biolink:Disease	dystonia 30		OMIM:619291	mondo.json	DYT30	http://purl.obolibrary.org/obo/MONDO_0025691	https://omim.org/entry/619291	
MONDO:0025690	biolink:Disease	microcephaly, epilepsy, and diabetes syndrome 2		OMIM:619278	mondo.json	MEDS2	http://purl.obolibrary.org/obo/MONDO_0025690	https://omim.org/entry/619278	
MONDO:0023030	biolink:Disease	dysmorphism cleft palate loose skin		GARD:0002009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023030		gard_rare
MONDO:0023031	biolink:Disease	obsolete dysostosis acral with facial and genital abnormalities			mondo.json		http://purl.obolibrary.org/obo/MONDO_0023031		
MONDO:0023033	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0023033		
MONDO:0011056	biolink:Disease	Wilms tumor 4		MESH:C563336|UMLS:C1832426|OMIM:601363	mondo.json	Wilms tumor 4|Wilms tumor type 4|WT4|familial Wilms tumor 1|Wilms tumor, type 4	http://purl.obolibrary.org/obo/MONDO_0011056	UMLS:C1832426|http://identifiers.org/mesh/C563336|https://omim.org/entry/601363	
MONDO:0011055	biolink:Disease	distal monosomy 10p	Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13.	UMLS:C4304502|MESH:C563337|GARD:0001323|SCTID:719686003|UMLS:C1832431|OMIM:601362|Orphanet:1580|NCIT:C130982	mondo.json	DiGeorge syndrome/velocardiofacial syndrome Complex type 2|10p deletion|monosomy 10p|partial monosomy 10p|DiGeorge syndrome type 2|telomeric deletion 10p|10p monosomy|10p13-p14 Deletion syndrome|distal 10p deletion|Dgs2|chromosome 10p deletion|distal monosomy type 10p|DiGeorge syndrome/velocardiofacial syndrome complex 2|DiGeorge syndrome/velocardiofacial syndrome complex-2|monosomy 10pter|deletion 10p	http://purl.obolibrary.org/obo/MONDO_0011055	http://identifiers.org/snomedct/719686003|UMLS:C1832431|Orphanet:1580|UMLS:C4304502|http://identifiers.org/mesh/C563337|https://omim.org/entry/601362|NCIT:C130982	ordo_malformation_syndrome
MONDO:0011058	biolink:Disease	autosomal dominant nonsyndromic hearing loss 9	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COCH gene.	DOID:0110593|MESH:C563335|OMIM:601369|UMLS:C1832425	mondo.json	autosomal dominant nonsyndromic deafness type 9|deafness, autosomal dominant type 9|autosomal dominant deafness 9|COCH autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in COCH|deafness, autosomal dominant 9|autosomal dominant nonsyndromic deafness 9|DFNA9	http://purl.obolibrary.org/obo/MONDO_0011058	UMLS:C1832425|DOID:0110593|http://identifiers.org/mesh/C563335|https://omim.org/entry/601369	
MONDO:0011057	biolink:Disease	cerebrovascular disorder	A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction.	DOID:6713|NCIT:C2938|MESH:D002561|ICD9:434.91|ICD9:430-438.99|ICD10CM:I60-I69|EFO:0003763|ICD9:437.8|UMLS:C0007820|ICD9:437.9|SCTID:62914000	mondo.json	CVA|cerebrovascular disease|cerebrovascular accident|cerebrovascular disorder|stroke|CVA (cerebral vascular accident)|cerebral infarction	http://purl.obolibrary.org/obo/MONDO_0011057	http://identifiers.org/mesh/D002561|http://purl.bioontology.org/ontology/ICD10CM/I60-I69|DOID:6713|NCIT:C2938|http://identifiers.org/snomedct/62914000|UMLS:C0007820	
MONDO:0011059	biolink:Disease	holoprosencephaly-craniosynostosis syndrome	Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features.	OMIM:601370|UMLS:C1832424|GARD:0002454|Orphanet:2163|ICD10CM:Q04.2|SCTID:715434005|MESH:C537684	mondo.json	Genoa syndrome|camera Lituania Cohen syndrome|holoprosencephaly craniosynostosis|Camero-Lituania-Cohen syndrome|Semilobar holoprosencephaly and primary craniosynostosis|holoprosencephaly, SEMILOBAR, with craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0011059	Orphanet:2163|UMLS:C1832424|http://identifiers.org/mesh/C537684|http://identifiers.org/snomedct/715434005|https://omim.org/entry/601370	ordo_malformation_syndrome
CHEBI:76760	biolink:ChemicalSubstance	EC 3.1.* (ester hydrolase) inhibitor	A hydrolase inhibitor that interferes with the action of any ester hydrolase (EC 3.1.*.*).		mondo.json	ester hydrolase (EC 3.1.*) inhibitor|ester hydrolase inhibitors|EC 3.1.* inhibitor|EC 3.1.* inhibitors|ester hydrolase inhibitor|ester hydrolase (EC 3.1.*) inhibitors|EC 3.1.* (ester hydrolase) inhibitors	http://purl.obolibrary.org/obo/CHEBI_76760		
MONDO:0011050	biolink:Disease	microcephaly-cardiac defect-lung malsegmentation syndrome	Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.	Orphanet:2516|OMIM:601355|MESH:C563341|SCTID:719379001|GARD:0002098	mondo.json	microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis|microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs|Ellis Yale Winter syndrome|Ellis-Yale-Winter syndrome	http://purl.obolibrary.org/obo/MONDO_0011050	http://identifiers.org/snomedct/719379001|Orphanet:2516|http://identifiers.org/mesh/C563341|https://omim.org/entry/601355	ordo_malformation_syndrome
HGNC:14432	biolink:NamedThing	TMEM237			mondo.json		http://identifiers.org/hgnc/14432		
MONDO:0011052	biolink:Disease	amelia cleft lip palate hydrocephalus iris coloboma		MESH:C536713|OMIM:601357|GARD:0000388|GARD:0000641|UMLS:C1832434	mondo.json	brachial AMELIA, cleft LIP, and holoprosencephaly|amelia cleft lip palate hydrocephalus iris coloboma|brachial amelia, forebrain defects, and Facial clefts|bilateral brachial amelia, facial clefts, encephalocele, orbital cyst and omphalocele|brachial amelia, forebrain defects and facial clefts|ACLH	http://purl.obolibrary.org/obo/MONDO_0011052	UMLS:C1832434|http://identifiers.org/mesh/C536713|https://omim.org/entry/601357	gard_rare
CHEBI:76764	biolink:ChemicalSubstance	EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor	Any hydrolase inhibitor that interferes with the action of a hydrolase acting on C-N bonds, other than peptide bonds (EC 3.5.*.*).		mondo.json	EC 3.5.* (hydrolases acting on C-N bonds, other than peptide bonds) inhibitor|EC 3.5.* (hydrolases acting on C-N bonds, other than peptide bonds) inhibitors|EC 3.5.* (hydrolase acting on non-peptide C-N bond) inhibitor|EC 3.5.* inhibitor|EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitors|EC 3.5.* inhibitors|EC 3.5.* (hydrolase acting on non-peptide C-N bond) inhibitors	http://purl.obolibrary.org/obo/CHEBI_76764		
MONDO:0035027	biolink:Disease	microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome		Orphanet:521445	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035027	Orphanet:521445	ordo_disorder
MONDO:0011051	biolink:Disease	lethal short-limb skeletal dysplasia, Al Gazali type		OMIM:601356|MESH:C537598|UMLS:C1832435|GARD:0004827	mondo.json	lethal short-limb skeletal dysplasia, Al Gazali type|lethal short limb skeletal dysplasia Al Gazali type|lethal neonatal short limb dwarfism	http://purl.obolibrary.org/obo/MONDO_0011051	UMLS:C1832435|http://identifiers.org/mesh/C537598|https://omim.org/entry/601356	gard_rare
MONDO:0011054	biolink:Disease	autosomal recessive amelia	Autosomal recessive amelia is characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents.	Orphanet:1027|UMLS:C1832432|SCTID:726735000|OMIM:601360|MESH:C563338	mondo.json	amelia, autosomal recessive|Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0011054	http://identifiers.org/snomedct/726735000|Orphanet:1027|UMLS:C1832432|http://identifiers.org/mesh/C563338|https://omim.org/entry/601360	ordo_malformation_syndrome
MONDO:0011053	biolink:Disease	intellectual disability-sparse hair-brachydactyly syndrome	Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.	OMIM:601358|UMLS:C1303073|Orphanet:3051|MESH:C536116|SCTID:401046009|GARD:0000270	mondo.json	NBs|NICOLAIDES-Baraitser syndrome|sparse hair and mental retardation|sparse hair and intellectual disability|Nicolaides-Baraitser syndrome|intellectual disability-sparse hair-brachydactyly syndrome|SMARCA2-related BAFopathy|NCBRS	http://purl.obolibrary.org/obo/MONDO_0011053	UMLS:C1303073|http://identifiers.org/mesh/C536116|https://omim.org/entry/601358|http://identifiers.org/snomedct/401046009|Orphanet:3051	ordo_malformation_syndrome
MONDO:0023023	biolink:Disease	neonatal dacryocystitis	Inflammation of the lacrimal sac in a newborn due to blocked drainage of tears or infection.	SCTID:23735003|NCIT:C116819|UMLS:C0270178	mondo.json	Neonatal dacryocystitis|Neonatal Dacryocystitis|neonatal dacryocystitis	http://purl.obolibrary.org/obo/MONDO_0023023	UMLS:C0270178|http://identifiers.org/snomedct/23735003|NCIT:C116819	
CHR:9606-chr9q	biolink:NamedThing	9q (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr9q		
CHR:9606-chr9p	biolink:NamedThing	9p (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr9p		
MONDO:0023020	biolink:Disease	dwarfism deafness retinitis pigmentosa		GARD:0001985	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023020		gard_rare
MONDO:0023021	biolink:Disease	dwarfism lethal type advanced bone age		GARD:0001986	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023021		gard_rare
MONDO:0023022	biolink:Disease	dwarfism thin bones multiple fractures		GARD:0001992	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023022		gard_rare
MONDO:0011045	biolink:Disease	MMEP syndrome	A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.	SCTID:715533002|UMLS:C4275099|Orphanet:3434|OMIM:601349|UMLS:C1832440|MESH:C537686|GARD:0003693	mondo.json	microphthalmia, syndromic 8|microcephaly, microphthalmia, ectrodactyly of Lower limbs, and prognathism|MCOPS8|microcephaly microphthalmia ectrodactyly of lower limbs and prognathism|syndromic microphthalmia type 8|MMEP|Viljoen Smart syndrome|microphthalmia syndromic 8|microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome|Viljoen-Smart syndrome	http://purl.obolibrary.org/obo/MONDO_0011045	Orphanet:3434|UMLS:C1832440|http://identifiers.org/snomedct/715533002|http://identifiers.org/mesh/C537686|https://omim.org/entry/601349|UMLS:C4275099	ordo_malformation_syndrome
MONDO:0011044	biolink:Disease	ectrodactyly of lower limbs, congenital heart defect, and micrognathia		OMIM:601348|UMLS:C1832441|MESH:C563344	mondo.json	ectrodactyly of lower limbs, congenital heart defect, and micrognathia	http://purl.obolibrary.org/obo/MONDO_0011044	UMLS:C1832441|http://identifiers.org/mesh/C563344|https://omim.org/entry/601348	
MONDO:0011047	biolink:Disease	deafness-epiphyseal dysplasia-short stature syndrome	This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit).	UMLS:C1832438|MESH:C535928|SCTID:716238003|Orphanet:3218|GARD:0001688|OMIM:601351	mondo.json	deafness, femoral epiphyseal dysplasia, short stature and developmental delay|growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction|chitty-Hall-Baraitser syndrome|deafness, epiphyseal dysplasia, short stature	http://purl.obolibrary.org/obo/MONDO_0011047	Orphanet:3218|UMLS:C1832438|http://identifiers.org/snomedct/716238003|http://identifiers.org/mesh/C535928|https://omim.org/entry/601351	ordo_malformation_syndrome
MONDO:0011046	biolink:Disease	short stature, Brussels type	This syndrome is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism.	MESH:C537121|Orphanet:2867|GARD:0004838|SCTID:719213009|UMLS:C1832439|OMIM:601350	mondo.json	familial short stature with facial dysmorphism and osteochondrodysplastic lesions|Mievis-Verellen-Dumoulin syndrome|short stature syndrome, Brussels type|Mievis Verellen-Dumoulin syndrome	http://purl.obolibrary.org/obo/MONDO_0011046	http://identifiers.org/mesh/C537121|UMLS:C1832439|Orphanet:2867|http://identifiers.org/snomedct/719213009|https://omim.org/entry/601350	ordo_malformation_syndrome
MONDO:0011049	biolink:Disease	fine-Lubinsky syndrome	Fine-Lubinsky syndrome is characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies.	GARD:0000958|Orphanet:1272|MESH:C537933|SCTID:720955004|OMIM:601353|UMLS:C0795941	mondo.json	brachycephaly, deafness, cataract, microstomia, and mental retardation|brachycephaly-deafness-cataract-intellectual disability syndrome|brachycephaly, deafness, cataract, microstomia, and intellectual disability|brachycephaly, deafness, cataract and intellectual disability|fine-Lubinsky syndrome|brachycephaly, deafness, cataract and mental retardation	http://purl.obolibrary.org/obo/MONDO_0011049	http://identifiers.org/snomedct/720955004|Orphanet:1272|UMLS:C0795941|http://identifiers.org/mesh/C537933|https://omim.org/entry/601353	gard_rare|ordo_malformation_syndrome
MONDO:0011048	biolink:Disease	epilepsy-microcephaly-skeletal dysplasia syndrome	Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children.	Orphanet:1948|GARD:0000836|OMIM:601352	mondo.json	Battaglia-Neri syndrome|mental retardation, microcephaly, epilepsy, and coarse face|epilepsy - microcephaly - skeletal dysplasia|intellectual disability, microcephaly, epilepsy, and coarse face	http://purl.obolibrary.org/obo/MONDO_0011048	Orphanet:1948|https://omim.org/entry/601352	ordo_malformation_syndrome
OBO:ECTO_9000175	biolink:NamedThing	exposure to metal cation	An exposure to metal cation.		mondo.json	exposure to metal cation	http://purl.obolibrary.org/obo/ECTO_9000175		
MONDO:0011041	biolink:Disease	ectodermal dysplasia with natal teeth, Turnpenny type	Ectodermal dysplasia with natal teeth, Turnpenny type is characterised by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant.	GARD:0010526|SCTID:715576000|MESH:C563347|OMIM:601345|UMLS:C1832444|Orphanet:69083	mondo.json	ectodermal dysplasia, hair/Tooth type|ectodermal dysplasia with natal teeth Turnpenny type|ectodermal dysplasia with natal teeth, Turnpenny type	http://purl.obolibrary.org/obo/MONDO_0011041	http://identifiers.org/snomedct/715576000|UMLS:C1832444|Orphanet:69083|http://identifiers.org/mesh/C563347|https://omim.org/entry/601345	ordo_malformation_syndrome|gard_rare
CHEBI:76775	biolink:ChemicalSubstance	EC 3.1.3.* (phosphoric monoester hydrolase) inhibitor	An EC 3.1.* (ester hydrolase) inhibitor that interferes with the action of any phosphoric monoester hydrolase (EC 3.1.3.*).		mondo.json	inhibitors of phosphoric monoester hydrolase (EC 3.1.3.*)|phosphoric monoester hydrolase inhibitor|phosphoric monoester hydrolase inhibitors|inhibitor of phosphoric monoester hydrolase (EC 3.1.3.*)|EC 3.1.3.* inhibitor|phosphoric monoester hydrolase (EC 3.1.3.*) inhibitor|inhibitor of phosphoric monoester hydrolase|inhibitors of phosphoric monoester hydrolase|EC 3.1.3.* (phosphoric monoester hydrolase) inhibitors|phosphoric monoester hydrolase (EC 3.1.3.*) inhibitors|EC 3.1.3.* inhibitors	http://purl.obolibrary.org/obo/CHEBI_76775		
MONDO:0011040	biolink:Disease	spinal dysplasia, Anhalt type		MESH:C563348|OMIM:601344|UMLS:C1832464	mondo.json	spinal dysplasia, Anhalt type	http://purl.obolibrary.org/obo/MONDO_0011040	UMLS:C1832464|http://identifiers.org/mesh/C563348|https://omim.org/entry/601344	
MONDO:0035037	biolink:Disease	obsolete rare genetic disorder of the visual organs		Orphanet:522504	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035037	Orphanet:522504	
MONDO:0011043	biolink:Disease	myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay		UMLS:C1832442|MESH:C563345|OMIM:601347	mondo.json	myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay	http://purl.obolibrary.org/obo/MONDO_0011043	UMLS:C1832442|http://identifiers.org/mesh/C563345|https://omim.org/entry/601347	
CHEBI:76773	biolink:ChemicalSubstance	EC 3.1.1.* (carboxylic ester hydrolase) inhibitor	An EC 3.1.* (ester hydrolase) inhibitor that interferes with the action of a carboxylic ester hydrolase (EC 3.1.1.*).		mondo.json	EC 3.1.1.* inhibitor|carboxylic ester hydrolase (EC 3.1.1.*) inhibitor|carboxylic ester hydrolase (EC 3.1.1.*) inhibitors|EC 3.1.1.* (carboxylic ester hydrolase) inhibitors|EC 3.1.1.* inhibitors	http://purl.obolibrary.org/obo/CHEBI_76773		
MONDO:0011042	biolink:Disease	Martinez-Frias syndrome		UMLS:C1832443|MESH:C563346|Orphanet:137862|OMIM:601346|UMLS:CN199270	mondo.json	Martinez-Frias syndrome|pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula|Martínez-Frías syndrome	http://purl.obolibrary.org/obo/MONDO_0011042	UMLS:C1832443|UMLS:CN199270|http://identifiers.org/mesh/C563346|https://omim.org/entry/601346	
MONDO:0023013	biolink:Disease	Duker-Weiss-Siber syndrome		MESH:C535719|UMLS:C2930993|GARD:0001918	mondo.json	microphthalmos, microencephaly, intellectual disability, agenesis of the corpus callosum, hypospadius, and cryptorchidism|Duker Weiss Siber syndrome|microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism	http://purl.obolibrary.org/obo/MONDO_0023013	UMLS:C2930993|http://identifiers.org/mesh/C535719	gard_rare
MONDO:0023015	biolink:Disease	duodenal atresia tetralogy of fallot		GARD:0001919	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023015		gard_rare
MONDO:0023016	biolink:Disease	duplication of leg mirror foot		GARD:0001976	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023016		gard_rare
MONDO:0023017	biolink:Disease	duplication of the thumb unilateral biphalangeal		GARD:0001977	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023017		gard_rare
MONDO:0023018	biolink:Disease	dupont sellier chochillon syndrome		GARD:0001983	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023018		gard_rare
MONDO:0023019	biolink:Disease	dwarfism bluish sclerae		GARD:0001984	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023019		gard_rare
HGNC:14409	biolink:NamedThing	SLC25A19			mondo.json		http://identifiers.org/hgnc/14409		
MONDO:0023011	biolink:Disease	Wilson-Mikity syndrome		UMLS:C0270171|GARD:0010495|SCTID:51577008	mondo.json	Pulmonary dysmaturity syndrome|Wilson-Mikity syndrome|Pulmonary dysmaturity|pulmonary dysmaturity|wilson-mikity syndrome	http://purl.obolibrary.org/obo/MONDO_0023011	http://identifiers.org/snomedct/51577008|UMLS:C0270171	gard_rare
MONDO:0011034	biolink:Disease	odontomicronychial dysplasia	Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.	UMLS:C1832473|Orphanet:1811|OMIM:601319|GARD:0004053|MESH:C537741	mondo.json	odontomicronychial dysplasia|ectodermal dysplasia, nail/Tooth type|odonto-micronychial dysplasia	http://purl.obolibrary.org/obo/MONDO_0011034	UMLS:C1832473|http://identifiers.org/mesh/C537741|Orphanet:1811|https://omim.org/entry/601319	gard_rare|ordo_malformation_syndrome
MONDO:0013697	biolink:Disease	intellectual disability, autosomal recessive 29		UMLS:C3280525|OMIM:614333	mondo.json	intellectual disability, autosomal recessive 29|MRT29|mental retardation, autosomal recessive 29	http://purl.obolibrary.org/obo/MONDO_0013697	UMLS:C3280525|https://omim.org/entry/614333	
CL:0000185	biolink:Cell	myoepithelial cell	Contractile cells resembling smooth muscle cells that are present in glands, notably the mammary gland, and aid in secretion. This cell has long weaving dendritic processes containing myofilament.	FMA:67799|CALOHA:TS-2379|BTO:0002309	mondo.json	basket epithelial cell|myoepitheliocyte	http://purl.obolibrary.org/obo/CL_0000185		
MONDO:0011033	biolink:Disease	type 1 diabetes mellitus 13	A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 2q34.	OMIM:601318|UMLS:C1832474|MESH:C563352|DOID:0110752	mondo.json	insulin-dependent diabetes mellitus 13|IDDM13|diabetes mellitus, insulin-dependent, 13	http://purl.obolibrary.org/obo/MONDO_0011033	UMLS:C1832474|http://identifiers.org/mesh/C563352|DOID:0110752|https://omim.org/entry/601318	
MONDO:0013698	biolink:Disease	arthrogryposis, distal, type 1B		DOID:0111598|OMIM:614335|UMLS:C3280526	mondo.json	arthrogryposis, distal, type 1B|DA1B	http://purl.obolibrary.org/obo/MONDO_0013698	UMLS:C3280526|DOID:0111598|https://omim.org/entry/614335	
CL:0000186	biolink:Cell	myofibroblast cell	An animal cell that has characteristics of both a fibroblast cell and a smooth muscle cell.		mondo.json	MFB	http://purl.obolibrary.org/obo/CL_0000186		
MONDO:0011036	biolink:Disease	porencephaly-cerebellar hypoplasia-internal malformations syndrome	Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.	UMLS:C1832472|GARD:0004437|OMIM:601322|MESH:C536336|SCTID:763821001|Orphanet:2941	mondo.json	porencephaly cerebellar hypoplasia internal malformations|Bonnemann-Meinecke syndrome|Bonnemann Meinecke syndrome|porencephaly, cerebellar hypoplasia, and internal malformations	http://purl.obolibrary.org/obo/MONDO_0011036	https://omim.org/entry/601322|UMLS:C1832472|Orphanet:2941|http://identifiers.org/mesh/C536336|http://identifiers.org/snomedct/763821001	ordo_malformation_syndrome
CL:0000187	biolink:Cell	muscle cell	A mature contractile cell, commonly known as a myocyte. This cell has as part of its cytoplasm myofibrils organized in various patterns.	BTO:0000888|CALOHA:TS-2032|FMA:67328|WBbt:0003675|FBbt:00005074|BTO:0000902	mondo.json	muscle fiber|myocyte	http://purl.obolibrary.org/obo/CL_0000187		
MONDO:0013695	biolink:Disease	colorectal cancer, hereditary nonpolyposis, type 6	Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene.	UMLS:C1860896|MESH:C566039|DOID:0070273|OMIM:614331	mondo.json	colon cancer, hereditary nonpolyposis, type 6|colorectal cancer, hereditary nonpolyposis, type 6|TGFBR2 hereditary nonpolyposis colon cancer|hereditary nonpolyposis colon cancer caused by mutation in TGFBR2|HNPCC6	http://purl.obolibrary.org/obo/MONDO_0013695	DOID:0070273|http://identifiers.org/mesh/C566039|UMLS:C1860896|https://omim.org/entry/614331	
MONDO:0011035	biolink:Disease	neurofibromatosis-Noonan syndrome	Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafC)-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS).	GARD:0000372|MESH:D009456|DOID:0111683|MESH:C537393|Orphanet:638|OMIM:601321|SCTID:715344006	mondo.json	neurofibromatosis with Noonan phenotype|Noonan neurofibromatosis syndrome|NFNS|neurofibromatosis type 1-Noonan syndrome|Noonan-neurofibromatosis syndrome|neurofibromatosis-Noonan syndrome	http://purl.obolibrary.org/obo/MONDO_0011035	http://identifiers.org/mesh/C537393|Orphanet:638|DOID:0111683|http://identifiers.org/snomedct/715344006|https://omim.org/entry/601321	ordo_malformation_syndrome|gard_rare
MONDO:0013696	biolink:Disease	chromosome 2P16.3 deletion syndrome		UMLS:C3808494|OMIM:614332	mondo.json	chromosome 2P16.3 deletion syndrome|schizophrenia 17|schizophrenia, susceptibility to, 17	http://purl.obolibrary.org/obo/MONDO_0013696	https://omim.org/entry/614332|UMLS:C3808494	
CL:0000188	biolink:Cell	cell of skeletal muscle	A somatic cell located in skeletal muscle.	BTO:0004392|FMA:9727|CALOHA:TS-2158	mondo.json	skeletal muscle cell	http://purl.obolibrary.org/obo/CL_0000188		
MONDO:0011038	biolink:Disease	cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.	MESH:C535351|OMIM:601338|SCTID:720634003|Orphanet:1171|GARD:0001188	mondo.json	cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss|CAPOS|CAPOS syndrome|cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss|cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss	http://purl.obolibrary.org/obo/MONDO_0011038	https://omim.org/entry/601338|Orphanet:1171|http://identifiers.org/snomedct/720634003|http://identifiers.org/mesh/C535351	ordo_disease
HGNC:14412	biolink:NamedThing	AGXT2			mondo.json		http://identifiers.org/hgnc/14412		
MONDO:0011037	biolink:Disease	renal dysplasia, cystic, susceptibility to		DOID:0111682|GARD:0004658|MESH:C537755|OMIM:601331	mondo.json	renal dysplasia, cystic, susceptibility to|CYSRD|diffuse cystic renal dysplasia|renal dysplasia diffuse cystic	http://purl.obolibrary.org/obo/MONDO_0011037	https://omim.org/entry/601331|http://identifiers.org/mesh/C537755|DOID:0111682	predisposition
MONDO:0013699	biolink:Disease	colorectal cancer, hereditary nonpolyposis, type 4	Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the PMS2 gene.	MESH:C563971|UMLS:C1838333|OMIM:614337|DOID:0070275	mondo.json	PMS2 hereditary nonpolyposis colon cancer|HNPCC4|hereditary nonpolyposis colon cancer caused by mutation in PMS2|colorectal cancer, hereditary nonpolyposis, type 4	http://purl.obolibrary.org/obo/MONDO_0013699	http://identifiers.org/mesh/C563971|DOID:0070275|UMLS:C1838333|https://omim.org/entry/614337	
MONDO:0011039	biolink:Disease	atrophia maculosa varioliformis cutis, familial		UMLS:C1832465|OMIM:601341|MESH:C563349	mondo.json	AMVC|atrophia MACULOSA VARIOLIFORMIS cutis, familial|atrophia maculosa varioliformis cutis, familial|varioliform macular atrophy of the skin	http://purl.obolibrary.org/obo/MONDO_0011039	http://identifiers.org/mesh/C563349|https://omim.org/entry/601341|UMLS:C1832465	
MONDO:0013690	biolink:Disease	Pitt-Hopkins-like syndrome 2	Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene.	OMIM:614325|UMLS:C3280479|DOID:0111332	mondo.json	Pitt-Hopkins-like syndrome caused by mutation in NRXN1|Pitt-Hopkins-like syndrome 2|PTHSL2|NRXN1 Pitt-Hopkins-like syndrome|Pitt-Hopkins-like syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0013690	DOID:0111332|https://omim.org/entry/614325|UMLS:C3280479	
MONDO:0013693	biolink:Disease	inflammatory skin and bowel disease, neonatal, 1	Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene.	UMLS:C3280501|OMIM:614328	mondo.json	neonatal inflammatory skin and bowel disease caused by mutation in ADAM17|inflammatory skin and bowel disease, neonatal, 1|NISBD1|ADAM17 neonatal inflammatory skin and bowel disease|inflammatory skin and bowel disease, neonatal, type 1	http://purl.obolibrary.org/obo/MONDO_0013693	https://omim.org/entry/614328|UMLS:C3280501	
CL:0000181	biolink:Cell	obsolete metabolising cell	A cell whose primary function is intermediary metabolism.		mondo.json		http://purl.obolibrary.org/obo/CL_0000181		
MONDO:0011030	biolink:Disease	epithelial basolateral chloride conductance regulator, rabbit, homolog of		OMIM:601315	mondo.json	epithelial basolateral chloride conductance regulator, rabbit, homolog of|Ebcr	http://purl.obolibrary.org/obo/MONDO_0011030	https://omim.org/entry/601315	
MONDO:0013694	biolink:Disease	intellectual disability, autosomal recessive 31		UMLS:C3280523|OMIM:614329	mondo.json	intellectual disability, autosomal recessive 31|MRT31|mental retardation, autosomal recessive 31	http://purl.obolibrary.org/obo/MONDO_0013694	https://omim.org/entry/614329|UMLS:C3280523	
CL:0000182	biolink:Cell	hepatocyte	The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. Majority of cell population of liver, polygonal in shape, arranged in plates or trabeculae between sinusoids; may have single nucleus or binucleated.	BTO:0000575|FMA:14515|CALOHA:TS-0454	mondo.json		http://purl.obolibrary.org/obo/CL_0000182		
CL:0000183	biolink:Cell	contractile cell	A cell whose primary function is to shorten.		mondo.json		http://purl.obolibrary.org/obo/CL_0000183		
MONDO:0013691	biolink:Disease	Feingold syndrome type 2	Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.	Orphanet:391646|OMIM:614326|UMLS:C3280489	mondo.json	microcephaly-digital anomalies-normal intelligence syndrome type 2|FGLDS2|Feingold syndrome 2|brachydactyly with short stature and microcephaly|FS2|Feingold syndrome type 2|brachydactyly-short stature-microcephaly syndrome|Brunner-Winter syndrome type 2|MMT type 2|microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0013691	Orphanet:391646|https://omim.org/entry/614326|UMLS:C3280489	ordo_clinical_subtype
MONDO:0011032	biolink:Disease	autosomal dominant nonsyndromic hearing loss 11	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.	OMIM:601317|UMLS:C1832475|MESH:C563353|DOID:0110543	mondo.json	MYO7A autosomal dominant nonsyndromic deafness|DFNA11|deafness, autosomal dominant 11|autosomal dominant nonsyndromic deafness 11|autosomal dominant deafness 11|deafness, autosomal dominant type 11|autosomal dominant nonsyndromic deafness type 11|autosomal dominant nonsyndromic deafness caused by mutation in MYO7A	http://purl.obolibrary.org/obo/MONDO_0011032	UMLS:C1832475|DOID:0110543|http://identifiers.org/mesh/C563353|https://omim.org/entry/601317	
MONDO:0013692	biolink:Disease	BAP1-related tumor predisposition syndrome	BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.	GARD:0013219|OMIM:614327|UMLS:C3280492|Orphanet:289539|SCTID:765057007	mondo.json	TPDS|tumor susceptibility linked to germline BAP1 mutations|BAP1 tumor predisposition syndrome|tumor predisposition syndrome|BAP1-related tumor predisposition syndrome	http://purl.obolibrary.org/obo/MONDO_0013692	https://omim.org/entry/614327|Orphanet:289539|http://identifiers.org/snomedct/765057007|UMLS:C3280492	ordo_disease
MONDO:0011031	biolink:Disease	autosomal dominant nonsyndromic hearing loss 10	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene.	UMLS:C1832476|OMIM:601316|MESH:C563354|DOID:0110542	mondo.json	autosomal dominant nonsyndromic deafness caused by mutation in EYA4|deafness, autosomal dominant 10|DFNA10|autosomal dominant nonsyndromic deafness 10|autosomal dominant deafness 10|deafness, autosomal dominant type 10|EYA4 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness type 10	http://purl.obolibrary.org/obo/MONDO_0011031	UMLS:C1832476|DOID:0110542|http://identifiers.org/mesh/C563354|https://omim.org/entry/601316	
MONDO:0023002	biolink:Disease	double discordia		GARD:0001905	mondo.json	corrected transposition|atrio-ventricular and ventriculo-arterial double Discordia	http://purl.obolibrary.org/obo/MONDO_0023002		gard_rare
HGNC:26404	biolink:NamedThing	NADK2			mondo.json		http://identifiers.org/hgnc/26404		
MONDO:0023003	biolink:Disease	double fingernail of fifth finger		GARD:0001906	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023003		gard_rare
MONDO:0023005	biolink:Disease	double uterus-hemivagina-renal agenesis		GARD:0001910	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023005		gard_rare
MONDO:0025667	biolink:Disease	limbal stem cell deficiency		Orphanet:171673|UMLS:C1561989	mondo.json		http://purl.obolibrary.org/obo/MONDO_0025667	Orphanet:171673	ordo_disease
MONDO:0023006	biolink:Disease	doxorubicin induced cardiomyopathy		GARD:0006285	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023006		gard_rare
MONDO:0023007	biolink:Disease	Drachtman Weinblatt Sitarz syndrome	A rare genetic disorder, characterized by under-development of bone marrow and neurological disorders such as weakness on one side of the body, agenesis of corpus callosum and hydrocephalus.	GARD:0001913|UMLS:C2930947|MESH:C535603	mondo.json	Drachtman Weinblatt Sitarz syndrome|marrow hypoplasia associated with congenital neurologic anomalies	http://purl.obolibrary.org/obo/MONDO_0023007	http://identifiers.org/mesh/C535603|UMLS:C2930947	gard_rare
MONDO:0023008	biolink:Disease	obsolete drachtman weinblatt sitarz syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0023008		
MONDO:0011019	biolink:Disease	alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome	This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism.	MESH:C563370|Orphanet:1014|OMIM:601217|SCTID:720981000	mondo.json	alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism|alopecia-intellectual disability syndrome with convulsions and hypergonadotropic hypogonadism|Devriendt-Vandenberghe-Fryns syndrome	http://purl.obolibrary.org/obo/MONDO_0011019	http://identifiers.org/snomedct/720981000|http://identifiers.org/mesh/C563370|https://omim.org/entry/601217|Orphanet:1014	ordo_disease
HGNC:26401	biolink:NamedThing	MARVELD2			mondo.json		http://identifiers.org/hgnc/26401		
MONDO:0023000	biolink:Disease	obsolete dobrow syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0023000		
MONDO:0011023	biolink:Disease	hereditary mixed polyposis syndrome	Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.	DOID:0111684|OMIMPS:601228|MESH:C563365|UMLS:CN240759|Orphanet:157794	mondo.json	hereditary mixed polyposis syndrome|HMPS	http://purl.obolibrary.org/obo/MONDO_0011023	https://omim.org/phenotypicSeries/PS601228|Orphanet:157794|DOID:0111684|http://identifiers.org/mesh/C563365|UMLS:CN240759	ordo_disease
MONDO:0013686	biolink:Disease	distal myopathy, Tateyama type	Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.	Orphanet:488650|UMLS:C3280443|DOID:0111191|SCTID:711265009|OMIM:614321	mondo.json	MPDT|myopathy, distal, Tateyama type	http://purl.obolibrary.org/obo/MONDO_0013686	UMLS:C3280443|DOID:0111191|http://identifiers.org/snomedct/711265009|https://omim.org/entry/614321|Orphanet:488650	ordo_disease
MONDO:0011022	biolink:Disease	Potocki-Shaffer syndrome	Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).	MESH:C538356|DOID:0111687|DECIPHER:34|UMLS:C1832588|SCTID:702346005|NCIT:C75456|GARD:0009762|Orphanet:52022|OMIM:601224|ICD9:758.39	mondo.json	PSS|Defect11 syndrome|chromosome 11P11.2 deletion syndrome|proximal 11P deletion syndrome|deletion of chromosome 11p11.2|proximal 11p deletion syndrome|11p11.2 deletion|Potocki-Shaffer syndrome	http://purl.obolibrary.org/obo/MONDO_0011022	https://omim.org/entry/601224|Orphanet:52022|http://identifiers.org/snomedct/702346005|http://identifiers.org/mesh/C538356|UMLS:C1832588|NCIT:C75456|DOID:0111687	ordo_malformation_syndrome
CL:0000197	biolink:Cell	sensory receptor cell	A cell that is capable of detection of a stimulus involved in sensory perception.		mondo.json	receptor cell	http://purl.obolibrary.org/obo/CL_0000197		
MONDO:0013687	biolink:Disease	autosomal recessive spinocerebellar ataxia 12	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.	Orphanet:284282|UMLS:C3280452|DOID:0080060|OMIM:614322	mondo.json	WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome|autosomal recessive spinocerebellar ataxia type 12|spinocerebellar ataxia, autosomal recessive 12|autosomal recessive spinocerebellar ataxia 12|autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to WWOX deficiency|WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome|autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX|autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX|spinocerebellar ataxia with mental retardation and epilepsy|SCAR12|spinocerebellar ataxia with intellectual disability and epilepsy|spinocerebellar ataxia, autosomal recessive type 12	http://purl.obolibrary.org/obo/MONDO_0013687	UMLS:C3280452|DOID:0080060|Orphanet:284282|https://omim.org/entry/614322	ordo_disease
MONDO:0013684	biolink:Disease	vesicoureteral reflux 6		OMIM:614319|UMLS:C3280441	mondo.json	VUR6|vesicoureteral reflux 6	http://purl.obolibrary.org/obo/MONDO_0013684	UMLS:C3280441|https://omim.org/entry/614319	
MONDO:0011025	biolink:Disease	Cayman type cerebellar ataxia	Cerebellar ataxia, Cayman type is characterised by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia.	Orphanet:94122|OMIM:601238|MESH:C563363|SCTID:717332007|UMLS:C1832585|DOID:0060694	mondo.json	ataxia, cerebellar, Cayman type|Cayman cerebellar ataxia|Cayman type cerebellar ataxia|cerebellar ataxia, CAYMAN type|ATCAY|Cayman ataxia|cerebellar ataxia, Cayman type	http://purl.obolibrary.org/obo/MONDO_0011025	http://identifiers.org/mesh/C563363|http://identifiers.org/snomedct/717332007|https://omim.org/entry/601238|Orphanet:94122|DOID:0060694|UMLS:C1832585	ordo_disease
MONDO:0013685	biolink:Disease	pancreatic cancer, susceptibility to, 4	Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA1 gene.	OMIM:614320	mondo.json	PNCA4|pancreatic cancer, susceptibility to, type 4|BRCA1 familial pancreatic carcinoma|familial pancreatic carcinoma caused by mutation in BRCA1|susceptibility to pancreatic cancer 4|pancreatic cancer, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0013685	https://omim.org/entry/614320	predisposition
MONDO:0011024	biolink:Disease	dermatitis herpetiformis, familial	Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms mayinclude fluid-filled sores; red lesions that resemble hives; and itchiness, rednessand burning. The exact cause of this disease is not known,but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone.	GARD:0001917|OMIM:601230|MESH:C538218|UMLS:C1832586	mondo.json	hereditary dermatitis herpetiformis|dermatitis herpetiformis, familial|DH|Brocq-Duhring disease|Duhring Brocq disease|Duhring's disease	http://purl.obolibrary.org/obo/MONDO_0011024	https://omim.org/entry/601230|http://identifiers.org/mesh/C538218|UMLS:C1832586	gard_rare
CL:0000199	biolink:Cell	mechanoreceptor cell	A cell specialized to transduce mechanical stimuli and relay that information centrally in the nervous system.		mondo.json	mechanoreceptor	http://purl.obolibrary.org/obo/CL_0000199		
MONDO:0011027	biolink:Disease	diabetes mellitus, noninsulin-dependent, 1		OMIM:601283|MESH:C563359|UMLS:C1832544	mondo.json	diabetes mellitus, noninsulin-dependent, 1|diabetes mellitus, noninsulin-dependent 1|diabetes mellitus, noninsulin-dependent, type 1|NIDDM1|noninsulin-dependent diabetes mellitus 1	http://purl.obolibrary.org/obo/MONDO_0011027	http://identifiers.org/mesh/C563359|https://omim.org/entry/601283|UMLS:C1832544	
MONDO:0011026	biolink:Disease	autosomal recessive congenital ichthyosis 4A	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene.	GARD:0009733|MESH:C537264|OMIM:601277|DOID:0060712	mondo.json	autosomal recessive congenital ichthyosis type 4A|ICR2B|LI2|ichthyosis lamellar 2|ichthyosis congenita IIB|ichthyosis, congenital, autosomal recessive type 4A|lamellar ichthyosis, type 2|ichthyosis, lamellar, 2, formerly|ichthyosis, congenital, autosomal recessive 4A|lamellar ichthyosis 2|ichthyosis, lamellar, 2|ichthyosis congenita 2B|ARCI4A	http://purl.obolibrary.org/obo/MONDO_0011026	https://omim.org/entry/601277|DOID:0060712|http://identifiers.org/mesh/C537264	
MONDO:0013688	biolink:Disease	linear and whorled nevoid hypermelanosis	Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism.	NCIT:C3924|UMLS:C1304501|GARD:0011004|Orphanet:79150|UMLS:C0263579|SCTID:403803002|OMIM:614323	mondo.json	nevoid hypermelanosis, linear and whorled|zebra-like hyperpigmentation|melanosis Neviformis|LWNH|linear papular ectodermal-mesodermal hamartoma|zosteriform lentiginous nevus|reticulate hyperpigmentation of Iijima|linear and whorled hypermelanosis|Becker Nevus|zosteriform hyperpigmentation|pigmented hairy Epidermal Nevus|Becker's Nevus|pigmented hairy Nevus of Becker|progressive cribriform and zosteriform hyperpigmentation|hyperpigmentation, progressive cribriform and zosteriform	http://purl.obolibrary.org/obo/MONDO_0013688	https://omim.org/entry/614323|UMLS:C1304501|NCIT:C3924|http://identifiers.org/snomedct/403803002|Orphanet:79150|UMLS:C0263579	ordo_disease|gard_rare
MONDO:0011029	biolink:Disease	myeloid tumor suppressor		OMIM:601308	mondo.json	myeloid tumor suppressor|myeloid leukemia-related locus	http://purl.obolibrary.org/obo/MONDO_0011029	https://omim.org/entry/601308	
MONDO:0013689	biolink:Disease	ovarian dysgenesis 3	Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene.	UMLS:C3280471|OMIM:614324|DOID:0080495	mondo.json	ovarian dysgenesis 3|ODG3|PSMC3IP 46 XX gonadal dysgenesis|ovarian dysgenesis type 3|46 XX gonadal dysgenesis caused by mutation in PSMC3IP	http://purl.obolibrary.org/obo/MONDO_0013689	https://omim.org/entry/614324|UMLS:C3280471|DOID:0080495	
MONDO:0011028	biolink:Disease	autosomal recessive limb-girdle muscular dystrophy type 2F	Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.	SCTID:718177001|Orphanet:219|GARD:0008573|OMIM:601287|DOID:0110280|MESH:C535896	mondo.json	SGCD autosomal recessive limb-girdle muscular dystrophy|delta-sarcoglycanopathy|limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency|LGMD2F|autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD|muscular dystrophy, limb-girdle, autosomal recessive 6|limb-girdle muscular dystrophy type 2F|muscular dystrophy limb-girdle with delta-sarcoglyan deficiency|muscular dystrophy, limb-girdle, type 2F	http://purl.obolibrary.org/obo/MONDO_0011028	http://identifiers.org/snomedct/718177001|http://identifiers.org/mesh/C535896|https://omim.org/entry/601287|Orphanet:219|DOID:0110280	gard_rare|ordo_disease
CL:0000192	biolink:Cell	smooth muscle cell	A non-striated, elongated, spindle-shaped cell found lining the digestive tract, uterus, and blood vessels. They develop from specialized myoblasts (smooth muscle myoblast).	FMA:14072|BTO:0004576|CALOHA:TS-2159	mondo.json	non-striated muscle cell|smooth muscle fiber|SMCs|myocytes, smooth muscle	http://purl.obolibrary.org/obo/CL_0000192		
MONDO:0013682	biolink:Disease	vesicoureteral reflux 4		OMIM:614317|UMLS:C3280439	mondo.json	vesicoureteral reflux 4|VUR4	http://purl.obolibrary.org/obo/MONDO_0013682	https://omim.org/entry/614317|UMLS:C3280439	
OBO:ECTO_9000156	biolink:NamedThing	exposure to water	An exposure to water.		mondo.json	exposure to water	http://purl.obolibrary.org/obo/ECTO_9000156		
MONDO:0013683	biolink:Disease	vesicoureteral reflux 5		OMIM:614318|UMLS:C3280440	mondo.json	VUR5|vesicoureteral reflux 5	http://purl.obolibrary.org/obo/MONDO_0013683	https://omim.org/entry/614318|UMLS:C3280440	
MONDO:0011021	biolink:Disease	neuronal intestinal dysplasia, type B		OMIM:601223|UMLS:C1832589	mondo.json	NID B|neuronal intestinal dysplasia, type B	http://purl.obolibrary.org/obo/MONDO_0011021	UMLS:C1832589|https://omim.org/entry/601223	
MONDO:0013680	biolink:Disease	cognitive impairment with or without cerebellar ataxia		OMIM:614306|UMLS:C3280415	mondo.json	cognitive impairment with or without cerebellar ataxia|CIAT	http://purl.obolibrary.org/obo/MONDO_0013680	https://omim.org/entry/614306|UMLS:C3280415	
MONDO:0011020	biolink:Disease	osteoporosis-oculocutaneous hypopigmentation syndrome	Osteoporosis-oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive.	SCTID:722113001|GARD:0000404|MESH:C536062|UMLS:C1832592|Orphanet:2786|OMIM:601220	mondo.json	osteoporosis oculocutaneous hypopigmentation syndrome|OOCH|osteoporosis and oculocutaneous hypopigmentation syndrome|OOCH syndrome|Hernández-Fragoso syndrome|OOCHS	http://purl.obolibrary.org/obo/MONDO_0011020	http://identifiers.org/snomedct/722113001|UMLS:C1832592|Orphanet:2786|http://identifiers.org/mesh/C536062|https://omim.org/entry/601220	ordo_malformation_syndrome|gard_rare
MONDO:0013681	biolink:Disease	alpha-methylacyl-CoA racemase deficiency	A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy.	SCTID:700463002|MESH:C565768|DOID:0060602|NCIT:C119677|EFO:1001980|OMIM:614307|UMLS:C3280428	mondo.json	AMACR|alpha-methylacyl-CoA racemase deficiency|AMACR deficiency|AMACRD	http://purl.obolibrary.org/obo/MONDO_0013681	NCIT:C119677|http://identifiers.org/snomedct/700463002|http://identifiers.org/mesh/C565768|https://omim.org/entry/614307|DOID:0060602|UMLS:C3280428	
MONDO:0023079	biolink:Disease	epidermal nevus vitamin D resistant rickets		GARD:0002136	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023079		gard_rare
GO:0052803	biolink:NamedThing	imidazole-containing compound metabolic process	The chemical reactions and pathways involving imidazoles, five-membered organic heterocycle containing two nitrogen atoms at positions 1 and 3, or any of its derivatives; compounds containing an imidazole skeleton.		mondo.json	imidazole metabolism	http://purl.obolibrary.org/obo/GO_0052803		
CHR:9606-chr20q13.3	biolink:NamedThing	20q13.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr20q13.3		
MONDO:0011090	biolink:Disease	isolated hereditary congenital facial paralysis	Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.	MESH:C563309|OMIMPS:601471|GARD:0008583|SCTID:733091002|Orphanet:306527|UMLS:C4518577	mondo.json	HCFP|Moebius syndrome 2 (formerly)|Mobius syndrome 2 (formerly)|facial paresis, hereditary congenital|facial paresis hereditary congenital|MBS2 (formerly)|facial palsy, congenital, unilateral or bilateral|hereditary congenital facial paresis	http://purl.obolibrary.org/obo/MONDO_0011090	http://identifiers.org/mesh/C563309|http://identifiers.org/snomedct/733091002|https://omim.org/phenotypicSeries/PS601471|UMLS:C4518577|Orphanet:306527	gard_rare|ordo_morphological_anomaly
MONDO:0023070	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0023070		
MONDO:0023071	biolink:Disease	enterovirus antenatal infection		GARD:0002130	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023071		gard_rare
MONDO:0023072	biolink:Disease	obsolete envenomization by Bothrops lanceolatus		Orphanet:1939|GARD:0002131	mondo.json	Envenomization by the Martinique lancehead viper	http://purl.obolibrary.org/obo/MONDO_0023072	Orphanet:1939	gard_rare
MONDO:0023073	biolink:Disease	eosinophilic cryptitis	Eosinophilic cystitis (EC) is a rare inflammatory bladder condition caused by the build up of eosinophils in the bladder. The exact cause of this condition is not known. However, EC has been found in those with allergies and asthma, and in those with a history of bladder trauma or infection, open bladder surgery, or surgery for a bladder tumor. EC has also been found in those who take certain medications.	ICD9:595.89|GARD:0006347|GARD:0006346|UMLS:C0742965|SCTID:445918001	mondo.json	eosinophilic cystitis	http://purl.obolibrary.org/obo/MONDO_0023073	http://identifiers.org/snomedct/445918001|UMLS:C0742965	gard_rare
MONDO:0023076	biolink:Disease	eosinophilic pustular folliculitis	Eosinophilic pustular folliculitis (EPF) is a skin disorder characterized by recurring itchy, red or skin-colored bumps and pustules (bumps containing pus). The condition is named after the fact that skin biopsies of this disorder find eosinophils (a type of immune cell) around hair follicles. The papules mostly appear on the face, scalp, neck and trunk and may persist for weeks or months. EPF affects males more than females.There are several variants of EPF includingclassic eosinophilic pustular folliculitis (mainly occurring in adults in Japan); HIV-associated EPF, also referred to as immunosuppression-associated EPF; and infantile EPF (with onset from birth or within the first year of life). Whether these are distinct disorders rather than variants of one disorder is controversial, partly because the underlying cause of EFP is not known.Several treatments have been described with variable results, including various oral or topical medications and phototherapy. In patients with HIV-associated disease, antiretroviral therapy tends to greatly diminish symptoms or even eliminate the condition.	UMLS:C0406305|MESH:C535953|ICD9:704.8|GARD:0008534|SCTID:95333004	mondo.json	EPF|eosinophilic folliculitis, pustular|Ofuji disease|eosinophilic folliculitis|Ofuji's disease	http://purl.obolibrary.org/obo/MONDO_0023076	http://identifiers.org/mesh/C535953|http://identifiers.org/snomedct/95333004|UMLS:C0406305	gard_rare
CL:0000163	biolink:Cell	endocrine cell	A cell of an endocrine gland, ductless glands that secrete substances which are released directly into the circulation and which influence metabolism and other body functions.	FMA:83809	mondo.json	endocrinocyte	http://purl.obolibrary.org/obo/CL_0000163		
MONDO:0011099	biolink:Disease	human HOXA1 syndromes	Human HOXA1 syndromes is characterised by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive.	SCTID:720518006|DOID:0050682|Orphanet:69739|GARD:0008333|UMLS:C1832215|OMIM:601536	mondo.json	Human HOXA1 syndromes|Athabaskan brainstem dysgenesis|ABDS|Athabaskan brainstem dysgenesis syndrome|Navajo brainstem syndrome|Athabascan brainstem dysgenesis syndrome|Bosley Salih Alorainy syndrome|BSAS|ABSD|Bosley-Salih-Alorainy syndrome	http://purl.obolibrary.org/obo/MONDO_0011099	Orphanet:69739|DOID:0050682|https://omim.org/entry/601536|http://identifiers.org/snomedct/720518006|UMLS:C1832215	ordo_disease
CL:0000164	biolink:Cell	enteroendocrine cell	An endocrine cell that is located in the epithelium of the gastrointestinal tract or in the pancreas.	FMA:62930|BTO:0003865	mondo.json		http://purl.obolibrary.org/obo/CL_0000164		
CL:0000165	biolink:Cell	neuroendocrine cell	An endocrine cell that has the specialized function to produce and secrete hormones in response to neuronal signals.	BTO:0002691|FMA:83810	mondo.json	neurosecretory cell	http://purl.obolibrary.org/obo/CL_0000165		
CL:0000166	biolink:Cell	chromaffin cell	A cell that stores epinephrine secretory vesicles. During times of stress, the nervous system signals the vesicles to secrete their hormonal content. Their name derives from their ability to stain a brownish color with chromic salts. Characteristically, they are located in the adrenal medulla and paraganglia of the sympathetic nervous system.	FMA:69263|BTO:0000259	mondo.json	phaeochromocyte	http://purl.obolibrary.org/obo/CL_0000166		
CL:0000167	biolink:Cell	peptide hormone secreting cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000167		
UBERON:0022292	biolink:AnatomicalEntity	splenic arteriole			mondo.json		http://purl.obolibrary.org/obo/UBERON_0022292		
CL:0000168	biolink:Cell	insulin secreting cell		BTO:0000783	mondo.json		http://purl.obolibrary.org/obo/CL_0000168		
CL:0000169	biolink:Cell	type B pancreatic cell	A cell that secretes insulin and is located towards the center of the islets of Langerhans.	EV:0200009|ncithesaurus:Beta_Cell|FMA:70586|BTO:0000783|MA:0002419	mondo.json	pancreatic beta cell|pancreatic B-cell|beta cell islet|insulin-secreting cell|pancreatic B cell|beta cell of pancreatic islet|type B enteroendocrine cell|pancreatic islet core|B-cell of pancreatic islet|beta cell	http://purl.obolibrary.org/obo/CL_0000169		
UBERON:0022293	biolink:AnatomicalEntity	reproductive gland secretion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0022293		
MONDO:0011092	biolink:Disease	ribbing disease	Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone.Ribbing diseaseaffects women more frequently than men. The most common symptom is pain. A single studyof 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function).The cause of the condition iscurrently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion.Optimal treatment for the disease is largely unknown. There have been case reports describingtreatment of Ribbing diseasewith bisphosphonate pamidronate. Results have been mixed. The conditionoften resolves on its own; howevercases of progressive disease have been described.	GARD:0008494|UMLS:C1832273|MESH:C537613|OMIM:601477	mondo.json	multiple diaphyseal sclerosis|hereditary multiple diaphyseal sclerosis|diaphyseal sclerosis, multiple|ribbing disease	http://purl.obolibrary.org/obo/MONDO_0011092	https://omim.org/entry/601477|UMLS:C1832273|http://identifiers.org/mesh/C537613	gard_rare
UBERON:0022296	biolink:AnatomicalEntity	inferior palpebral branch of infra-orbital nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0022296		
MONDO:0011091	biolink:Disease	Charcot-Marie-Tooth disease type 2D	Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.	NCIT:C122659|MESH:C537993|GARD:0001251|DOID:0110164|SCTID:717011006|OMIM:601472|UMLS:C4274109|Orphanet:99938|UMLS:C1832274	mondo.json	Charcot-Marie-Tooth disease, neuronal, type 2D|CMT2D|autosomal dominant Charcot-Marie-Tooth disease type 2D|GARS Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease neuronal type 2D|Charcot Marie Tooth disease type 2D|Charcot-Marie-Tooth disease, type 2D|CMT 2D|Charcot-Marie-Tooth neuropathy, type 2D|Charcot-Marie-Tooth disease, axonal, type 2D|Charcot-Marie-Tooth neuropathy type 2D|Charcot-Marie-Tooth disease type 2 caused by mutation in GARS	http://purl.obolibrary.org/obo/MONDO_0011091	https://omim.org/entry/601472|UMLS:C4274109|http://identifiers.org/snomedct/717011006|UMLS:C1832274|NCIT:C122659|Orphanet:99938|http://identifiers.org/mesh/C537993|DOID:0110164	gard_rare|ordo_disease
MONDO:0011094	biolink:Disease	dilated cardiomyopathy 1C	A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2.	DOID:0110423|OMIM:601493|MESH:C563307|NCIT:C170436	mondo.json	CMD1C|cardiomyopathy, dilated, 1C, with or without LVNC|left ventricular noncompaction 3|dilated cardiomyopathy type 1C|cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction|CMDC1|cardiomyopathy, familial hypertrophic, 24|dilated cardiomyopathy 1C with or without left ventricular noncompaction|cardiomyopathy, hypertrophic, 24	http://purl.obolibrary.org/obo/MONDO_0011094	DOID:0110423|http://identifiers.org/mesh/C563307|https://omim.org/entry/601493|NCIT:C170436	
UBERON:0022298	biolink:AnatomicalEntity	lower eyelid nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0022298		
MONDO:0011093	biolink:Disease	mucopolysaccharidosis type 9	An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency.	DOID:0050809|UMLS:C1291490|MESH:C563209|SCTID:124473006|NCIT:C129073|OMIM:601492|ICD9:277.6|Orphanet:67041	mondo.json	mucopolysaccharidosis, type 9|MPS 9|mucopolysaccharidosis type 9|hyaluronidase deficiency|mucopolysaccharidosis IX|mucopolysaccharidosis, type IX|MPS9|mucopolysaccharidosis type IX|MPSIX	http://purl.obolibrary.org/obo/MONDO_0011093	http://identifiers.org/mesh/C563209|http://identifiers.org/snomedct/124473006|UMLS:C1291490|https://omim.org/entry/601492|NCIT:C129073|Orphanet:67041|DOID:0050809	ordo_disease
UBERON:0022297	biolink:AnatomicalEntity	palpebral branch of infra-orbital nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0022297		
MONDO:0011096	biolink:Disease	autosomal agammaglobulinemia	Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.	UMLS:C1832241|MESH:C538056|Orphanet:33110|GARD:0009640	mondo.json	agammaglobulinemia, autosomal recessive, due to IGHM defect|AGM|agammaglobulinemia, non-Bruton type	http://purl.obolibrary.org/obo/MONDO_0011096	Orphanet:33110|http://identifiers.org/mesh/C538056|UMLS:C1832241	ordo_clinical_subtype
CHR:9606-chr3q	biolink:NamedThing	3q (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr3q		
MONDO:0011095	biolink:Disease	dilated cardiomyopathy 1D	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.	OMIM:601494|DOID:0110426|UMLS:C1832243|MESH:C563306	mondo.json	familial isolated dilated cardiomyopathy caused by mutation in TNNT2|TNNT2 familial isolated dilated cardiomyopathy|CMD1D|cardiomyopathy, dilated, 1D|left ventricular noncompaction 6|dilated cardiomyopathy type 1D|dilated cardiomyopathy 1D|cardiomyopathy, dilated, type 1D	http://purl.obolibrary.org/obo/MONDO_0011095	DOID:0110426|http://identifiers.org/mesh/C563306|https://omim.org/entry/601494|UMLS:C1832243	
CHR:9606-chr3p	biolink:NamedThing	3p (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr3p		
CL:0000160	biolink:Cell	goblet cell	A cell of the epithelial lining that produce and secrete mucins.	http://en.wikipedia.org/wiki/Goblet_cell|BTO:0001540|FMA:13148	mondo.json	chalice cell	http://purl.obolibrary.org/obo/CL_0000160		
UBERON:0022299	biolink:AnatomicalEntity	upper eyelid nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0022299		
MONDO:0011098	biolink:Disease	prostate cancer, hereditary, 1	Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene.	OMIM:601518	mondo.json	HPC1|prostate cancer, hereditary, 1|prostate cancer 1|RNASEL familial prostate cancer|familial prostate cancer caused by mutation in RNASEL|Prca1|prostate cancer, hereditary, type 1	http://purl.obolibrary.org/obo/MONDO_0011098	https://omim.org/entry/601518	
CL:0000161	biolink:Cell	acid secreting cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000161		
CL:0000162	biolink:Cell	parietal cell	A large, oval stomach epithelial cell with a central nucleus; source of gastric acid. Secretes HCl.	FMA:62901|BTO:0001780	mondo.json	oxyntic cell	http://purl.obolibrary.org/obo/CL_0000162		
MONDO:0011097	biolink:Disease	Axenfeld-Rieger syndrome type 2	An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14.	UMLS:C1832229|OMIM:601499|MESH:C535680|DOID:0110121	mondo.json	Axenfeld-Rieger syndrome, type 2|Rieger syndrome type 2|RIEG2|Rieger syndrome, type 2	http://purl.obolibrary.org/obo/MONDO_0011097	DOID:0110121|http://identifiers.org/mesh/C535680|https://omim.org/entry/601499|UMLS:C1832229	
MONDO:0023067	biolink:Disease	endemic Kaposi sarcoma		GARD:0010431	mondo.json	African/endemic Kaposi sarcoma|African Kaposi sarcoma	http://purl.obolibrary.org/obo/MONDO_0023067		gard_rare
MONDO:0023068	biolink:Disease	engelhard yatziv syndrome		GARD:0002124	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023068		gard_rare
MONDO:0023069	biolink:Disease	enlarged vestibular aqueduct syndrome		OMIM:600791|DOID:0050332|GARD:0008651	mondo.json	enlarged vestibular aqueduct syndrome|enlarged vestibular aqueduct|large vestibular aqueduct syndrome	http://purl.obolibrary.org/obo/MONDO_0023069	DOID:0050332	gard_rare
MONDO:0023061	biolink:Disease	enamel hypoplasia cataract hydrocephaly		GARD:0002106	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023061		gard_rare
MONDO:0023062	biolink:Disease	encephalocele anencephaly		GARD:0002109	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023062		gard_rare
MONDO:0023065	biolink:Disease	obsolete encephalopathy recurrent of childhood			mondo.json		http://purl.obolibrary.org/obo/MONDO_0023065		
MONDO:0023066	biolink:Disease	enchondromatosis dwarfism deafness		GARD:0000294	mondo.json	Wallis cremin Beighton syndrome	http://purl.obolibrary.org/obo/MONDO_0023066		gard_rare
CL:0000174	biolink:Cell	steroid hormone secreting cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000174		
MONDO:0011089	biolink:Disease	patent ductus venosus		OMIM:601466|GARD:0010483|ICD9:747.49|SCTID:253330006|MESH:C562830	mondo.json	patent ductus venosus|portosystemic Venous shunt, congenital|PDV|PSVS	http://purl.obolibrary.org/obo/MONDO_0011089	http://identifiers.org/snomedct/253330006|https://omim.org/entry/601466|http://identifiers.org/mesh/C562830	gard_rare
MONDO:0011088	biolink:Disease	congenital myasthenic syndrome 1A	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene.	DOID:0110663|OMIM:601462	mondo.json	myasthenic syndrome, congenital, type IIa, formerly|myasthenic syndrome, congenital, type IIa|congenital myasthenic syndrome type IIa|congenital myasthenic syndrome 1A, slow-channel|CMS IIa|CHRNA1 congenital myasthenic syndrome|myasthenic syndrome, congenital, 1A, slow-channel|Cms IIa, formerly|congenital myasthenic syndrome caused by mutation in CHRNA1|Cms IIa|CMS1A|congenital myasthenic syndrome type 1A	http://purl.obolibrary.org/obo/MONDO_0011088	DOID:0110663|https://omim.org/entry/601462	
CL:0000175	biolink:Cell	luteal cell	A progesterone secreting cell in the corpus luteum. The large luteal cells develop from the granulosa cells. The small luteal cells develop from the theca cells.	BTO:0003939|FMA:18688	mondo.json	lutein cell	http://purl.obolibrary.org/obo/CL_0000175		
CL:0000177	biolink:Cell	testosterone secreting cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000177		
CL:0000178	biolink:Cell	Leydig cell	A Leydig cell is a testosterone-secreting cell in the interstitial area, between the seminiferous tubules, in the testis.	BTO:0000755|CALOHA:TS-1150|FMA:72297|EMAPA:29655	mondo.json	interstitial cell|interstitial cell of Leydig	http://purl.obolibrary.org/obo/CL_0000178		
CL:0000179	biolink:Cell	progesterone secreting cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000179		
MONDO:0011081	biolink:Disease	dislocation of the hip-dysmorphism syndrome	Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.	Orphanet:2412|UMLS:C1832353|OMIM:601450|SCTID:763755009|MESH:C563315|GARD:0001428	mondo.json	Collins-Pope syndrome|dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism|Collins Pope syndrome|hip, congenital dislocation of, with hyperextensibility of fingers and Facial Dysmorphism|dislocation of the hip dysmorphism	http://purl.obolibrary.org/obo/MONDO_0011081	http://identifiers.org/snomedct/763755009|http://identifiers.org/mesh/C563315|https://omim.org/entry/601450|Orphanet:2412|UMLS:C1832353	ordo_malformation_syndrome|gard_rare
MONDO:0011080	biolink:Disease	progressive deafness with stapes fixation	Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease).	UMLS:C1844678|SCTID:715529009|MESH:C563316|OMIM:601449|Orphanet:3235|UMLS:C1832354|GARD:0005170	mondo.json	Thies Reis syndrome|Stapedo-vestibular ankylosis|deafness, progressive, with stapes fixation|Thies-Reis syndrome	http://purl.obolibrary.org/obo/MONDO_0011080	http://identifiers.org/mesh/C563316|https://omim.org/entry/601449|Orphanet:3235|http://identifiers.org/snomedct/715529009|UMLS:C1832354	gard_rare|ordo_malformation_syndrome
MONDO:0011083	biolink:Disease	trichodental syndrome	Trichodental syndrome is characterised by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant.	OMIM:601453|GARD:0000265|SCTID:277810000|MESH:C536551|UMLS:C0406724|Orphanet:3351	mondo.json	TRICHODENTAL dysplasia|Tricho-dental dysplasia|Tricho-dental syndrome|kersey syndrome	http://purl.obolibrary.org/obo/MONDO_0011083	http://identifiers.org/mesh/C536551|https://omim.org/entry/601453|http://identifiers.org/snomedct/277810000|Orphanet:3351|UMLS:C0406724	gard_rare|ordo_malformation_syndrome
MONDO:0011082	biolink:Disease	oculoauriculofrontonasal syndrome		MESH:C537865|OMIM:601452|Orphanet:398156|UMLS:C1832352|GARD:0004031	mondo.json	OCULOAURICULOFRONTONASAL syndrome|oculoauriculofrontonasal syndrome|OAFNS|oculoauriculofrontonasal dysplasia	http://purl.obolibrary.org/obo/MONDO_0011082	Orphanet:398156|https://omim.org/entry/601452|UMLS:C1832352|http://identifiers.org/mesh/C537865	ordo_malformation_syndrome|gard_rare
CL:0000170	biolink:Cell	glucagon secreting cell	A cell that secretes glucagon.	FMA:84045	mondo.json	glucagon-secreting cell	http://purl.obolibrary.org/obo/CL_0000170		
MONDO:0011085	biolink:Disease	Charcot-Marie-Tooth disease type 4D	Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.	GARD:0003973|SCTID:715798007|OMIM:601455|DOID:0110186|MESH:C535716|UMLS:C1832334|Orphanet:99950	mondo.json	hereditary motor ABD sensory neuropathy Lom type|NDRG1 Charcot-Marie-Tooth disease type 4|neuropathy, hereditary motor and sensory, Lom type|Charcot-Marie-Tooth disease type 4D|Charcot-Marie-Tooth neuropathy type 4D|Charcot-Marie-Tooth neuropathy, type 4D|hereditary motor and sensory neuropathy, Lom type|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4D|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D|Charcot-Marie-Tooth disease, type 4D|CMT4D|HMSN Lom type|Charcot-Marie-Tooth disease type 4 caused by mutation in NDRG1|HMSN, Lom type|HMSN-Lom|HMSN4D|NMSL|HMSNL	http://purl.obolibrary.org/obo/MONDO_0011085	Orphanet:99950|DOID:0110186|http://identifiers.org/mesh/C535716|https://omim.org/entry/601455|UMLS:C1832334|http://identifiers.org/snomedct/715798007	ordo_disease|gard_rare
MONDO:0011084	biolink:Disease	psoriasis 3, susceptibility to		OMIM:601454|DOID:0111283	mondo.json	psoriasis susceptibility 3|psoriasis 3, susceptibility to|PSORS3	http://purl.obolibrary.org/obo/MONDO_0011084	DOID:0111283|https://omim.org/entry/601454	
CHR:9606-chr4q	biolink:NamedThing	4q (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr4q		
CL:0000171	biolink:Cell	pancreatic A cell	A type of enteocrine cell found in the periphery of the islets of Langerhans that secretes glucagon.	FMA:70585|BTO:0000990	mondo.json	alpha cell of islet of Langerhans|pancreatic alpha cell	http://purl.obolibrary.org/obo/CL_0000171		
MONDO:0011087	biolink:Disease	inflammatory bowel disease 2	An inflammatory bowel disease that has material basis in variation in the chromosome region 12p13.2-q24.1.	MESH:C563310|DOID:0110900|OMIM:601458|UMLS:C1832321	mondo.json	IBD2|inflammatory bowel disease 2|inflammatory bowel disease type 2	http://purl.obolibrary.org/obo/MONDO_0011087	http://identifiers.org/mesh/C563310|DOID:0110900|https://omim.org/entry/601458|UMLS:C1832321	
CHR:9606-chr4p	biolink:NamedThing	4p (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr4p		
CL:0000172	biolink:Cell	somatostatin secreting cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000172		
CL:0000173	biolink:Cell	pancreatic D cell	A D cell located in the pancreas. Peripherally placed within the islets like type A cells; contains somatostatin.	FMA:70587|BTO:0000803	mondo.json	delta cell of islet|D-cell of pancreatic islet|delta cell of pancreatic islet|pancreatic D-cell|somatostatin-secreting pancreatic cell|pancreatic delta cell	http://purl.obolibrary.org/obo/CL_0000173		
MONDO:0011086	biolink:Disease	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.	DOID:0090013|MESH:C563311|Orphanet:331206|UMLS:C1832322|OMIM:601457|GARD:0010339	mondo.json	severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive|severe combined immunodeficiency due to complete RAG1-2 deficiency|severe combined immunodeficiency, B cell-negative|severe combined immunodeficiency due to complete RAG1/2 deficiency|SCID, AR, T-cell negative, B-cell negative, NK cell-positive|SCID, T cell-negative, B cell-negative, NK cell-positive|severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|SCID due to complete RAG1-2 deficiency|SCID due to complete RAG1/2 deficiency	http://purl.obolibrary.org/obo/MONDO_0011086	Orphanet:331206|DOID:0090013|http://identifiers.org/mesh/C563311|https://omim.org/entry/601457|UMLS:C1832322	ordo_disease
CHR:9606-chr6p	biolink:NamedThing	6p (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr6p		
MONDO:0023059	biolink:Disease	Elliott ludman Teebi syndrome		MESH:C536204|GARD:0000189|UMLS:C2931128	mondo.json	multiple congenital anomalies, severe psychomotor retardation and symmetrical circumferential skin creases of arms and legs	http://purl.obolibrary.org/obo/MONDO_0023059	http://identifiers.org/mesh/C536204|UMLS:C2931128	gard_rare
CL:0000149	biolink:Cell	visual pigment cell			mondo.json	pigment cell	http://purl.obolibrary.org/obo/CL_0000149		
MONDO:0023050	biolink:Disease	ectrodactyly cardiopathy dysmorphism		UMLS:C2931127|MESH:C536187|GARD:0002063	mondo.json	ectrodactyly of lower limbs, congenital heart defect and characteristic facies|Van Den Ende Brunner syndrome	http://purl.obolibrary.org/obo/MONDO_0023050	http://identifiers.org/mesh/C536187|UMLS:C2931127	gard_rare
MONDO:0023052	biolink:Disease	obsolete ectrodactyly polydactyly			mondo.json		http://purl.obolibrary.org/obo/MONDO_0023052		
MONDO:0023054	biolink:Disease	klumpke's paralysis	Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand. Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome. Klumpke paralysis is caused by an injury to the nerves of the brachial plexus which may result from a difficult delivery. This injury can cause a stretching (neuropraxia), tearing (called avulsion when the tear is at the spine, and rupture when it is not), or scarring (neuroma) of the brachial plexus nerves. Most infants with Klumpke paralysis have the more mild form of injury (neuropraxia) and often recover within 6 months.	NCIT:C116724|UMLS:C0270898|SCTID:83886009|GARD:0003123	mondo.json	Paralysis of the Lower Brachial Plexus|Palsy, Klumpke's|Klumpke's palsy|klumpke-dejerine paralysis|Klumpke-DC)jerine paralysis|Klumpke Palsy|Klumpke-Dejerine paralysis|Klumpkes Palsy|Lower brachial plexus palsy|Palsy, Dejerine-Klumpke|klumpke's paralysis|klumpke-dC)jerine brachial plexus injury|klumpke paralysis|Klumpke's Palsy|Lower Brachial Plexus Palsy|Klumpke Paralysis|Dejerine-Klumpke palsy|Klumpke-DC)jerine brachial plexus injury|Klumpke paralysis|klumpke's palsy|Dejerine-Klumpke Palsy|klumpke-dC)jerine paralysis|Paralysis, Klumpke|Klumpke's paralysis|Dejerine Klumpke Palsy	http://purl.obolibrary.org/obo/MONDO_0023054	UMLS:C0270898|NCIT:C116724|http://identifiers.org/snomedct/83886009	gard_rare
MONDO:0011078	biolink:Disease	anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis	A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.	Orphanet:2321|OMIM:601427|UMLS:C1832362|GARD:0003062|MESH:C537694	mondo.json	anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis|Jung Wolff back Stahl syndrome	http://purl.obolibrary.org/obo/MONDO_0011078	Orphanet:2321|UMLS:C1832362|http://identifiers.org/mesh/C537694|https://omim.org/entry/601427	ordo_disorder
MONDO:0035001	biolink:Disease	obsolete rare disorder of the visual organs		Orphanet:520814	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035001	Orphanet:520814	
MONDO:0011077	biolink:Disease	microcephaly, corpus callosum dysgenesis, and cleft lip/palate		GARD:0003614|MESH:C537547|OMIM:601420|UMLS:C1832369	mondo.json	microcephaly, corpus callosum dysgenesis, and cleft lip/palate|microcephaly, facial clefting, and preaxial polydactyly|microcephaly, corpus callosum dysgenesis and cleft lip-palate|corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation	http://purl.obolibrary.org/obo/MONDO_0011077	UMLS:C1832369|http://identifiers.org/mesh/C537547|https://omim.org/entry/601420	gard_rare
OBO:ECTO_9000107	biolink:NamedThing	exposure to solvent	An exposure to solvent.		mondo.json	exposure to solvent	http://purl.obolibrary.org/obo/ECTO_9000107		
MONDO:0011079	biolink:Disease	rhizomelic dysplasia, Patterson-Lowry type	Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia.	SCTID:715505002|UMLS:C1832359|GARD:0004703|Orphanet:2831|MESH:C537609|OMIM:601438	mondo.json	rhizomelic dysplasia, Patterson-Lowry type|Patterson-Lowry rhizomelic dysplasia|Patterson Lowry syndrome|rhizomelic dysplasia Patterson Lowry type	http://purl.obolibrary.org/obo/MONDO_0011079	UMLS:C1832359|Orphanet:2831|http://identifiers.org/mesh/C537609|https://omim.org/entry/601438|http://identifiers.org/snomedct/715505002	gard_rare|ordo_malformation_syndrome
CL:0000145	biolink:Cell	professional antigen presenting cell	A cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response.		mondo.json	APC	http://purl.obolibrary.org/obo/CL_0000145		
CL:0000146	biolink:Cell	simple columnar epithelial cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000146		
CL:0000147	biolink:Cell	pigment cell	A pigment cell is a cell that contains pigment granules.	VHOG:0001678	mondo.json	chromatophore|chromatocyte	http://purl.obolibrary.org/obo/CL_0000147		
CL:0000148	biolink:Cell	melanocyte	A pigment cell derived from the neural crest. Contains melanin-filled pigment granules, which gives a brown to black appearance.	BTO:0000847|FMA:70545|VHOG:0001679|CALOHA:TS-0613	mondo.json	melanophore	http://purl.obolibrary.org/obo/CL_0000148		
MONDO:0011070	biolink:Disease	van Maldergem syndrome 1	Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene.	DOID:0080585|OMIM:601390	mondo.json	DCHS1 van Maldergem syndrome|Van Maldergem syndrome type 1|VAN Maldergem syndrome 1|van Maldergem syndrome 1|VMLDS1|van Maldergem syndrome caused by mutation in DCHS1|Cerebrofacioarticular syndrome	http://purl.obolibrary.org/obo/MONDO_0011070	https://omim.org/entry/601390|DOID:0080585	
MONDO:0035009	biolink:Disease	isolated mesenteric vein thrombosis		Orphanet:583861	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035009	Orphanet:583861	ordo_disease
MONDO:0035008	biolink:Disease	isolated splenic vein thrombosis		Orphanet:583856	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035008	Orphanet:583856	ordo_disease
MONDO:0011072	biolink:Disease	diabetes mellitus, noninsulin-dependent, 2		UMLS:C1832387|OMIM:601407|MESH:C563323	mondo.json	noninsulin-dependent diabetes mellitus 2|diabetes mellitus, noninsulin-dependent, 2|NIDDM2	http://purl.obolibrary.org/obo/MONDO_0011072	http://identifiers.org/mesh/C563323|https://omim.org/entry/601407|UMLS:C1832387	
MONDO:0011071	biolink:Disease	hereditary thrombocytopenia and hematologic cancer predisposition syndrome	The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes.	GARD:0010352|SCTID:725034002|UMLS:C1832388|MESH:C563324|Orphanet:71290	mondo.json	hereditary thrombocytopenia and hematologic cancer predisposition syndrome	http://purl.obolibrary.org/obo/MONDO_0011071	http://identifiers.org/snomedct/725034002|Orphanet:71290|http://identifiers.org/mesh/C563324|UMLS:C1832388	ordo_disease
MONDO:0011074	biolink:Disease	autosomal dominant nonsyndromic hearing loss 7	An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has material basis in variation in the chromosome region 1q21-q23.	MESH:C563321|OMIM:601412|UMLS:C1832379|DOID:0110591	mondo.json	autosomal dominant nonsyndromic deafness type 7|autosomal dominant deafness 7|deafness, autosomal dominant 7|autosomal dominant nonsyndromic deafness 7|DFNA7	http://purl.obolibrary.org/obo/MONDO_0011074	DOID:0110591|http://identifiers.org/mesh/C563321|https://omim.org/entry/601412|UMLS:C1832379	
MONDO:0011073	biolink:Disease	diabetes mellitus, transient neonatal, 1		MESH:C563322|SCTID:609579009|OMIM:601410|Orphanet:99886	mondo.json	diabetes mellitus, transient neonatal, 1|Dmtn|Tndm|diabetes mellitus, transient neonatal, type 1|diabetes mellitus, transient neonatal 1|Tndm1	http://purl.obolibrary.org/obo/MONDO_0011073	Orphanet:99886|http://identifiers.org/mesh/C563322|https://omim.org/entry/601410|http://identifiers.org/snomedct/609579009	
MONDO:0035004	biolink:Disease	serine biosynthesis pathway deficiency, infantile/juvenile form		Orphanet:583595	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035004	Orphanet:583595	ordo_disease
MONDO:0011076	biolink:Disease	myofibrillar myopathy 1	A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.	UMLS:C3809137|UMLS:C1832370|OMIM:601419|Orphanet:98909|OMIM:615325|DOID:0110286|DOID:0080092|Orphanet:363543	mondo.json	cardiomyopathy, dilated, with conduction defect and muscular dystrophy|arrhythmogenic right ventricular dysplasia, familial, 7, formerly|arrhythmogenic right ventricular cardiomyopathy 7|cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D|CMD1F and LGMD1D, formerly|myopathy, myofibrillar, type 1|DES autosomal recessive limb-girdle muscular dystrophy|arrhythmogenic right ventricular dysplasia, familial, 7|autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES|myofibrillar myopathy 1|myopathy, myofibrillar, 1|desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy|IBM1|myofibrillar myopathy type 1|desmin-related myofibrillar myopathy|myofibrillar myopathy (disease) caused by mutation in DES|autosomal recessive limb-girdle muscular dystrophy type 2R|myopathy, myofibrillar, desmin-related|MFM1|desminopathy|desminopathy, primary|inclusion body myopathy 1, autosomal dominant, formerly|CMD1F and LGMD1D|DES myofibrillar myopathy (disease)|myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy|cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly|arrhythmogenic right ventricular cardiomyopathy 7, formerly|desmin-related myopathy|inclusion body myopathy 1, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0011076	UMLS:C1832370|DOID:0080092|Orphanet:98909|UMLS:C3809137|https://omim.org/entry/601419	ordo_disease
CHR:9606-chr5q	biolink:NamedThing	5q (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr5q		
CHR:9606-chr5p	biolink:NamedThing	5p (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr5p		
MONDO:0035002	biolink:Disease	isolated inherited retinal disorder		Orphanet:520817	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035002	Orphanet:520817	ordo_group_of_disorders
MONDO:0011075	biolink:Disease	retinitis pigmentosa 18	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene.	OMIM:601414|MESH:C563320|DOID:0110356|ICD10CM:H35.5|GARD:0010392|UMLS:C1832378	mondo.json	retinitis pigmentosa type 18|RP18|retinitis pigmentosa caused by mutation in PRPF3|RP 18|PRPF3 retinitis pigmentosa|retinitis pigmentosa 18	http://purl.obolibrary.org/obo/MONDO_0011075	DOID:0110356|http://identifiers.org/mesh/C563320|https://omim.org/entry/601414|UMLS:C1832378	gard_rare
CHR:9606-chr7q	biolink:NamedThing	7q (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr7q		
MONDO:0023045	biolink:Disease	ectodermal dysplasia arthrogryposis diabetes mellitus		GARD:0002042	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023045		gard_rare
CHR:9606-chr7p	biolink:NamedThing	7p (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr7p		
MONDO:0023046	biolink:Disease	ectodermal dysplasia blindness		GARD:0002045	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023046		gard_rare
MONDO:0023048	biolink:Disease	ectodermal dysplasia neurosensory deafness		UMLS:C1857068|GARD:0002053	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023048		gard_rare
GO:1990580	biolink:NamedThing	regulation of cytoplasmic translational termination	Any process that modulates the frequency, rate or extent of cytoplasmic translational termination.		mondo.json		http://purl.obolibrary.org/obo/GO_1990580		
MONDO:0023040	biolink:Disease	ectodermal dysplasia Bartalos type		GARD:0002043	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023040		gard_rare
MONDO:0023041	biolink:Disease	ectodermal dysplasia Berlin type		GARD:0002044	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023041		gard_rare
MONDO:0023042	biolink:Disease	ectodermal dysplasia margarita type		GARD:0002050	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023042		gard_rare
MONDO:0023043	biolink:Disease	ectodermal dysplasia alopecia preaxial polydactyly		OMIM:129540|MESH:C538016|UMLS:C2931691|GARD:0002040	mondo.json	absence of body & scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and unusual facial appearance	http://purl.obolibrary.org/obo/MONDO_0023043	UMLS:C2931691|http://identifiers.org/mesh/C538016	gard_rare
CL:0000152	biolink:Cell	exocrine cell	A cell of an exocrine gland; i.e. a gland that discharges its secretion via a duct.	FMA:16014	mondo.json		http://purl.obolibrary.org/obo/CL_0000152		
MONDO:0011067	biolink:Disease	autosomal recessive nonsyndromic hearing loss 12	An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22.	OMIM:601386|DOID:0110467|MESH:C563327|UMLS:C1832394	mondo.json	deafness, autosomal recessive type 12|deafness, autosomal recessive 12|DFNB12|autosomal recessive deafness 12|deafness, autosomal recessive 12, modifier of|autosomal recessive nonsyndromic deafness 12|autosomal recessive nonsyndromic deafness type 12	http://purl.obolibrary.org/obo/MONDO_0011067	UMLS:C1832394|DOID:0110467|http://identifiers.org/mesh/C563327|https://omim.org/entry/601386	
GO:2001020	biolink:NamedThing	regulation of response to DNA damage stimulus	Any process that modulates the frequency, rate or extent of response to DNA damage stimulus.		mondo.json	regulation of cellular response to DNA damage stimulus|regulation of cellular DNA damage response|regulation of DNA damage response|regulation of response to genotoxic stress	http://purl.obolibrary.org/obo/GO_2001020		
GO:2001021	biolink:NamedThing	negative regulation of response to DNA damage stimulus	Any process that stops, prevents or reduces the frequency, rate or extent of response to DNA damage stimulus.		mondo.json	negative regulation of DNA damage response|negative regulation of cellular response to DNA damage stimulus|negative regulation of cellular DNA damage response|negative regulation of response to genotoxic stress	http://purl.obolibrary.org/obo/GO_2001021		
MONDO:0011066	biolink:Disease	Charcot-Marie-Tooth disease type 4B1	Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).	Orphanet:99955|SCTID:715803003|DOID:0110191|GARD:0001253|MESH:C535420|UMLS:C1832399|OMIM:601382	mondo.json	Charcot-Marie-Tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4B1|autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1|CMT 4B|Charcot-Marie-Tooth disease, type 4B1|Charcot-Marie-Tooth neuropathy, type 4B1|MTMR2 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth neuropathy type 4B1|CMT4B1|CMT 4B1|Charcot-Marie-Tooth disease, type 4B|Charcot Marie Tooth disease type 4B1|Charcot-Marie-Tooth disease type 4B1|Charcot-Marie-Tooth disease type 4 caused by mutation in MTMR2	http://purl.obolibrary.org/obo/MONDO_0011066	UMLS:C1832399|Orphanet:99955|http://identifiers.org/snomedct/715803003|DOID:0110191|http://identifiers.org/mesh/C535420|https://omim.org/entry/601382	gard_rare|ordo_disease
CL:0000153	biolink:Cell	glycosaminoglycan secreting cell	A cell that secretes glycosaminoglycans.		mondo.json	hyaluronic acid secreting cell|GAG secreting cell	http://purl.obolibrary.org/obo/CL_0000153		
GO:2001022	biolink:NamedThing	positive regulation of response to DNA damage stimulus	Any process that activates or increases the frequency, rate or extent of response to DNA damage stimulus.		mondo.json	positive regulation of response to genotoxic stress|positive regulation of cellular response to DNA damage stimulus|positive regulation of DNA damage response|positive regulation of cellular DNA damage response	http://purl.obolibrary.org/obo/GO_2001022		
MONDO:0011069	biolink:Disease	cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction		GARD:0001227|MESH:C538072|UMLS:C1832391|OMIM:601389	mondo.json	cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction|cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction|Frydman Cohen Ashkenazi syndrome	http://purl.obolibrary.org/obo/MONDO_0011069	http://identifiers.org/mesh/C538072|UMLS:C1832391|https://omim.org/entry/601389	gard_rare
CL:0000154	biolink:Cell	protein secreting cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000154		
MONDO:0011068	biolink:Disease	type 1 diabetes mellitus 12	Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CTLA4 gene.	MESH:C563326|UMLS:C1832392|OMIM:601388|DOID:0110751	mondo.json	IDDM12|diabetes mellitus, insulin-dependent, 12|type 1 diabetes mellitus caused by mutation in CTLA4|insulin-dependent diabetes mellitus 12|diabetes mellitus, insulin-dependent, type 12|CTLA4 type 1 diabetes mellitus	http://purl.obolibrary.org/obo/MONDO_0011068	UMLS:C1832392|http://identifiers.org/mesh/C563326|DOID:0110751|https://omim.org/entry/601388	
CL:0000155	biolink:Cell	peptic cell	A cell that is usually basal in position, cuboidal with round nucleus, short microvilli, secretes pepsinogen.	FMA:62902	mondo.json	pepsinogen secreting cell|chief cell of stomach|gastric chief cell|zymogenic cell	http://purl.obolibrary.org/obo/CL_0000155		
GO:2001023	biolink:NamedThing	regulation of response to drug	Any process that modulates the frequency, rate or extent of response to drug.		mondo.json	regulation of drug susceptibility/resistance|regulation of drug resistance	http://purl.obolibrary.org/obo/GO_2001023		
GO:2001024	biolink:NamedThing	negative regulation of response to drug	Any process that stops, prevents or reduces the frequency, rate or extent of response to drug.		mondo.json	negative regulation of drug resistance|negative regulation of drug susceptibility/resistance	http://purl.obolibrary.org/obo/GO_2001024		
GO:2001025	biolink:NamedThing	positive regulation of response to drug	Any process that activates or increases the frequency, rate or extent of response to drug.		mondo.json	positive regulation of drug resistance|positive regulation of drug susceptibility/resistance	http://purl.obolibrary.org/obo/GO_2001025		
CL:0000157	biolink:Cell	surfactant secreting cell	A cell that specializes in secretion of surfactant in the alveoli of the lung.		mondo.json		http://purl.obolibrary.org/obo/CL_0000157		
CL:0000158	biolink:Cell	club cell	Epithelial progenitor cell of the lung. Club cells are dome-shaped with short microvilli but no cilia. They function to protect the bronchiolar epithelium. Club cells also multiply and differentiate into ciliated cells to regenerate the bronchiolar epithelium.	BTO:0004811|FMA:14119	mondo.json	bronchiolar non-ciliated cell|Clara cell|club cell of bronchiole	http://purl.obolibrary.org/obo/CL_0000158		
CL:0000159	biolink:Cell	seromucus secreting cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000159		
MONDO:0011061	biolink:Disease	chorea, remitting, with nystagmus and cataract		GARD:0009606|UMLS:C1832422|MESH:C535355|OMIM:601372	mondo.json	chorea, remitting with nystagmus and cataracts|familial remitting chorea, nystagmus and cataracts|chorea, remitting, with nystagmus and cataract	http://purl.obolibrary.org/obo/MONDO_0011061	UMLS:C1832422|http://identifiers.org/mesh/C535355|https://omim.org/entry/601372	
MONDO:0035018	biolink:Disease	frontonasal dysplasia-bifid nose-upper limb anomalies syndrome	A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis.	Orphanet:521308	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035018	Orphanet:521308	ordo_disorder
MONDO:0011060	biolink:Disease	early-onset non-syndromic cataract	Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.	UMLS:C1832423|Orphanet:91492|OMIM:116200|OMIM:612968|OMIM:601547|OMIM:604219|OMIM:601371|OMIM:611597|OMIM:115700	mondo.json	nuclear sclerosis of the lens|cataract, age-related nuclear	http://purl.obolibrary.org/obo/MONDO_0011060	https://omim.org/entry/601371|Orphanet:91492|UMLS:C1832423	ordo_disease
MONDO:0011063	biolink:Disease	hidrotic ectodermal dysplasia, Christianson-Fourie type	Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia.	MESH:C536180|OMIM:601375|Orphanet:1808|GARD:0002682|UMLS:C1832411	mondo.json	Christianson-Fourie syndrome|ectodermal dysplasia, hidrotic, Christianson-Fourie type	http://purl.obolibrary.org/obo/MONDO_0011063	UMLS:C1832411|http://identifiers.org/mesh/C536180|Orphanet:1808|https://omim.org/entry/601375	ordo_malformation_syndrome|gard_rare
MONDO:0011062	biolink:Disease	aprosencephaly cerebellar dysgenesis		Orphanet:1126|MESH:C563331|OMIM:601374|UMLS:C1832412	mondo.json	aprosencephaly and cerebellar dysgenesis	http://purl.obolibrary.org/obo/MONDO_0011062	Orphanet:1126|UMLS:C1832412|http://identifiers.org/mesh/C563331|https://omim.org/entry/601374	ordo_malformation_syndrome
MONDO:0011065	biolink:Disease	Hunter-McAlpine craniosynostosis	Hunter-McAlpine craniosynostosis is characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter).	MESH:C536072|Orphanet:97340|OMIM:601379|GARD:0002754|SCTID:721227001|UMLS:C1832408	mondo.json	Hunter-McAlpine craniosynostosis syndrome|craniosynostosis, mental deficiency, almond-shaped palpebral fissures, downturned mouth, mild acral-skeletal anomalies, and short stature|Hunter-McAlpine syndrome	http://purl.obolibrary.org/obo/MONDO_0011065	http://identifiers.org/snomedct/721227001|UMLS:C1832408|http://identifiers.org/mesh/C536072|Orphanet:97340|https://omim.org/entry/601379	ordo_malformation_syndrome
CL:0000150	biolink:Cell	glandular epithelial cell	A specialized epithelial cell that is capable of synthesizing and secreting certain biomolecules.	CALOHA:TS-2085|FMA:86494	mondo.json		http://purl.obolibrary.org/obo/CL_0000150		
MONDO:0035014	biolink:Disease	primary orthostatic disorder		Orphanet:521236	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035014	Orphanet:521236	ordo_group_of_disorders
CL:0000151	biolink:Cell	secretory cell	A cell that specializes in controlled release of one or more substances.	BTO:0003659|FMA:86916	mondo.json		http://purl.obolibrary.org/obo/CL_0000151		
CHR:9606-chr6q	biolink:NamedThing	6q (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr6q		
MONDO:0011064	biolink:Disease	lethal chondrodysplasia, Seller type		GARD:0003226|MESH:C563330|OMIM:601376|Orphanet:1421|UMLS:C1832410	mondo.json	lethal chondrodysplasia seller type|chondrodysplasia, lethal, with long bone angulation and mixed bone density	http://purl.obolibrary.org/obo/MONDO_0011064	UMLS:C1832410|Orphanet:1421|http://identifiers.org/mesh/C563330|https://omim.org/entry/601376	gard_rare|ordo_malformation_syndrome
MONDO:0035013	biolink:Disease	obsolete genetic primary orthostatic disorder		Orphanet:521232	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035013	Orphanet:521232	
MONDO:0001521	biolink:Disease	intermittent explosive disorder	A disorder characterized by recurrent episodes of serious assaultive acts or destruction of property due to a failure to resist aggressive impulses; the degree of aggression during these episodes is grossly out of proportion to any psychosocial provocation. The aggressive episodes are not etiologically linked to another mental disorder, a general medical condition, or substance use.	DOID:12401|ICD9:301.3|SCTID:231527003|NCIT:C94332|ICD9:312.34|ICD10CM:F63.81	mondo.json	explosive personality disorder	http://purl.obolibrary.org/obo/MONDO_0001521	http://purl.bioontology.org/ontology/ICD10CM/F63.81|DOID:12401|http://identifiers.org/snomedct/231527003|NCIT:C94332	
MONDO:0001520	biolink:Disease	kleptomania	A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft.	ICD9:312.32|DOID:12400|ICD10CM:F63.2|NCIT:C94333|SCTID:69361009	mondo.json	kleptomania|pathological stealing	http://purl.obolibrary.org/obo/MONDO_0001520	http://identifiers.org/snomedct/69361009|DOID:12400|http://purl.bioontology.org/ontology/ICD10CM/F63.2|NCIT:C94333	
MONDO:0001525	biolink:Disease	thyrocalcitonin secretion disease		UMLS:C0701822|DOID:12424|SCTID:190303007|ICD9:246.0	mondo.json	disorder of thyrocalcitonin secretion	http://purl.obolibrary.org/obo/MONDO_0001525	DOID:12424|http://identifiers.org/snomedct/190303007|UMLS:C0701822	
MONDO:0001524	biolink:Disease	obsolete globe disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001524		
MONDO:0001523	biolink:Disease	luxation of globe		UMLS:C0154806|ICD9:360.81|DOID:1241|SCTID:20842008	mondo.json	luxation of eye	http://purl.obolibrary.org/obo/MONDO_0001523	DOID:1241|UMLS:C0154806|http://identifiers.org/snomedct/20842008	
MONDO:0001522	biolink:Disease	pyromania	A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting.	ICD9:312.33|DOID:12402|NCIT:C94334|ICD10CM:F63.1|SCTID:600009|MESH:D005391	mondo.json	pathological firesetting|firesetting behavior	http://purl.obolibrary.org/obo/MONDO_0001522	DOID:12402|http://identifiers.org/mesh/D005391|http://purl.bioontology.org/ontology/ICD10CM/F63.1|NCIT:C94334|http://identifiers.org/snomedct/600009	
MONDO:0013507	biolink:Disease	granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3		UMLS:C3151409|OMIM:613960|DOID:0070194	mondo.json	CDG3|chronic granulomatous disease 3, autosomal recessive|granulomatous disease, chronic, due to Ncf4 deficiency|granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3|granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type III|CGD, autosomal recessive cytochrome B-positive, type 3	http://purl.obolibrary.org/obo/MONDO_0013507	UMLS:C3151409|DOID:0070194|https://omim.org/entry/613960	
HP:0010566	biolink:PhenotypicFeature	Hamartoma	A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma.	SNOMEDCT_US:51398009|MSH:D006222|UMLS:C0018552|SNOMEDCT_US:400006008	mondo.json		http://purl.obolibrary.org/obo/HP_0010566		
UBERON:0010384	biolink:AnatomicalEntity	lumen of laryngopharynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010384		
MONDO:0013508	biolink:Disease	myopia 19, autosomal dominant		UMLS:C3151410|OMIM:613969	mondo.json	MYP19|myopia 19, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0013508	UMLS:C3151410|https://omim.org/entry/613969	
MONDO:0013505	biolink:Disease	spermatogenic failure 9	Any azoospermia in which the cause of the disease is a mutation in the DPY19L2 gene.	UMLS:C3151407|DOID:0070175|OMIM:613958	mondo.json	spermatogenic failure 9|spermatogenic failure type 9|SPGF9|globozoospermia, total|DPY19L2 azoospermia|globozoospermia, complete|azoospermia caused by mutation in DPY19L2	http://purl.obolibrary.org/obo/MONDO_0013505	UMLS:C3151407|https://omim.org/entry/613958	
MONDO:0013506	biolink:Disease	schizophrenia 16	A schizophrenia that has material basis in a mutation on chromosome 7q36.3.	UMLS:C3151408|OMIM:613959|DOID:0070092	mondo.json	SCZD16|chromosome 7Q36.3 Duplication syndrome, 362-Kb|schizophrenia susceptibility locus, chromosome 7Q36.3-related|schizophrenia 16|schizophrenia type 16	http://purl.obolibrary.org/obo/MONDO_0013506	UMLS:C3151408|DOID:0070092|https://omim.org/entry/613959	
UBERON:0010388	biolink:AnatomicalEntity	proximal segment of rib			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010388		
MONDO:0013509	biolink:Disease	intellectual disability, autosomal dominant 6	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene.	OMIM:613970|DOID:0070036|UMLS:C3151411	mondo.json	intellectual disability, autosomal dominant 6|autosomal dominant mental retardation 6|autosomal dominant intellectual disability 6|mental retardation, autosomal dominant 6, with or without seizures|intellectual disability, autosomal dominant 6, with or without seizures|mental retardation, autosomal dominant 6|mental retardation, autosomal dominant type 6|intellectual disability, autosomal dominant type 6|intellectual developmental disorder, autosomal dominant 6, with or without seizures|MRD6|autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN2B|autosomal dominant non-syndromic intellectual disability 6|GRIN2B autosomal dominant non-syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0013509	https://omim.org/entry/613970|UMLS:C3151411|DOID:0070036	
MONDO:0013510	biolink:Disease	melanoma, cutaneous malignant, susceptibility to, 6		OMIM:613972	mondo.json	melanoma, cutaneous malignant, susceptibility to, 6|melanoma, cutaneous malignant, 6|susceptibility to cutaneous malignant melanoma 6|CMM6|melanoma, cutaneous malignant, susceptibility to, type 6	http://purl.obolibrary.org/obo/MONDO_0013510	https://omim.org/entry/613972	predisposition
MONDO:0013511	biolink:Disease	cyanosis, transient neonatal		UMLS:C3151421|OMIM:613977	mondo.json	TNCY|cyanosis, transient neonatal	http://purl.obolibrary.org/obo/MONDO_0013511	UMLS:C3151421|https://omim.org/entry/613977	
UBERON:0010379	biolink:AnatomicalEntity	superior tarsal muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010379		
HGNC:5028	biolink:NamedThing	HNMT			mondo.json		http://identifiers.org/hgnc/5028		
MONDO:0013514	biolink:Disease	hypotrichosis 3	Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene.	OMIM:613981|DOID:0110700|UMLS:C3151432	mondo.json	HYPT3|hypotrichosis caused by mutation in KRT74|hypt3|hypotrichosis type 3|hypotrichosis 3|hypotrichosis simplex of the scalp 2|Htss2|KRT74 hypotrichosis	http://purl.obolibrary.org/obo/MONDO_0013514	UMLS:C3151432|DOID:0110700|https://omim.org/entry/613981	
MONDO:0013515	biolink:Disease	osteogenesis imperfecta type 6	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene.	Orphanet:216812|Orphanet:216820|UMLS:C3279564|GARD:0008700|MESH:C536047|OMIM:613982|DOID:0110350	mondo.json	OI type 6|OI type VI|osteogenesis imperfecta, type VI|osteogenesis imperfecta caused by mutation in SERPINF1|osteogenesis imperfecta type|osteogenesis imperfecta type VI|osteogenesis imperfecta, type 6|SERPINF1 osteogenesis imperfecta|SERPINFI- related osteogenesis imperfecta|OI6	http://purl.obolibrary.org/obo/MONDO_0013515	http://identifiers.org/mesh/C536047|UMLS:C3279564|DOID:0110350|https://omim.org/entry/613982	
MONDO:0013512	biolink:Disease	hemoglobin H disease	Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia.	UMLS:C3161174|NCIT:C95504|OMIM:613978|Orphanet:93616|ICD9:282.49|MedDRA:10063435|SCTID:48553001|DOID:0110031	mondo.json	Hemoglobin H disease, Deletional|HbH disease|alpha-thalassemia intermedia|hemoglobin H disease, deletional and nondeletional|alpha thalassemia, hemoglobin H type|Alpha-thalassemia intermedia|hemoglobin H disease, deletional|Hemoglobin H disease, Nondeletional|HbH|HEMOGLOBIN H disease|Alpha-thalassemia, Hemoglobin H type|hemoglobin H disease	http://purl.obolibrary.org/obo/MONDO_0013512	DOID:0110031|UMLS:C3161174|https://omim.org/entry/613978|Orphanet:93616|NCIT:C95504|http://identifiers.org/snomedct/48553001	ordo_clinical_subtype
CHEBI:15765	biolink:ChemicalSubstance	L-dopa	An optically active form of dopa having L-configuration. Used to treat the stiffness, tremors, spasms, and poor muscle control of Parkinson's disease		mondo.json	3-Hydroxy-L-tyrosine|Dopar|(-)-dopa|Dihydroxy-L-phenylalanine|L-Dopa|L-dopa|L-DOPA|beta-(3,4-dihydroxyphenyl)alanine|L-beta-(3,4-Dihydroxyphenyl)alanine|3,4-Dihydroxy-L-phenylalanine|beta-(3,4-dihydroxyphenyl)-L-alanine|levodopa|levodopum|(2S)-2-amino-3-(3,4-dihydroxyphenyl)propanoic acid|3,4-DIHYDROXYPHENYLALANINE|(-)-3-(3,4-dihydroxyphenyl)-L-alanine	http://purl.obolibrary.org/obo/CHEBI_15765		
MONDO:0013513	biolink:Disease	atrial fibrillation, familial, 9	Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene.	OMIM:613980|UMLS:C3151431	mondo.json	familial atrial fibrillation caused by mutation in KCNJ2|ATFB9|atrial fibrillation, familial, type 9|KCNJ2 familial atrial fibrillation|atrial fibrillation, familial, 9	http://purl.obolibrary.org/obo/MONDO_0013513	UMLS:C3151431|https://omim.org/entry/613980	
MONDO:0001518	biolink:Disease	spastic entropion		DOID:12395|UMLS:C0155190|SCTID:20828000|ICD9:374.03	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001518	UMLS:C0155190|DOID:12395|http://identifiers.org/snomedct/20828000	
HGNC:7680	biolink:NamedThing	NDST1			mondo.json		http://identifiers.org/hgnc/7680		
MONDO:0001517	biolink:Disease	dysentery	Acute inflammation of the intestine associated with infectious diarrhea of various etiologies, generally acquired by eating contaminated food containing toxins, biological derived from bacteria or other microorganisms. Dysentery is characterized initially by watery feces then by bloody mucoid stools. It is often associated with abdominal pain; fever; and dehydration.	SCTID:19213003|DOID:12384|SCTID:111939009|UMLS:C0013369|MESH:D004403|ICD9:009.2|EFO:1001869	mondo.json	diarrheal disease, infectious|infective diarrhea|dysenteric diarrhea|infectious diarrheal diseases|infectious diarrheal disease|infectious diarrhea	http://purl.obolibrary.org/obo/MONDO_0001517	http://identifiers.org/snomedct/111939009|UMLS:C0013369|DOID:12384|http://identifiers.org/mesh/D004403|http://identifiers.org/snomedct/19213003	
CHEBI:64709	biolink:ChemicalSubstance	organic acid	Any organic molecular entity that is acidic and contains carbon in covalent linkage.		mondo.json	organic acids	http://purl.obolibrary.org/obo/CHEBI_64709		
MONDO:0001516	biolink:Disease	spinal muscular atrophy	Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person.	ICD9:335.19|ICD9:335.1|NCIT:C85075|EFO:0008525|ICD9:335.10|SCTID:5262007|UMLS:C0026847|GARD:0007674|MESH:D009134|DOID:12377	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001516	http://identifiers.org/snomedct/5262007|http://identifiers.org/mesh/D009134|UMLS:C0026847|NCIT:C85075|DOID:12377	gard_rare
CHEBI:64708	biolink:ChemicalSubstance	one-carbon compound	An organic molecular entity containing a single carbon atom (C1).		mondo.json	one-carbon compounds	http://purl.obolibrary.org/obo/CHEBI_64708		
MONDO:0001515	biolink:Disease	corneal degeneration		DOID:1237|ICD9:371.4|UMLS:C0155118|ICD10CM:H18.4|SCTID:111521006|ICD9:371.40|ICD9:371.49	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001515	http://identifiers.org/snomedct/111521006|UMLS:C0155118|DOID:1237|http://purl.bioontology.org/ontology/ICD10CM/H18.4	
HGNC:7684	biolink:NamedThing	NDUFA10			mondo.json		http://identifiers.org/hgnc/7684		
HGNC:7683	biolink:NamedThing	NDUFA1			mondo.json		http://identifiers.org/hgnc/7683		
MONDO:0001519	biolink:Disease	entropion	The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)	ICD9:374.00|SCTID:33168009|DOID:12397|UMLS:C0014390|HP:0000621|MESH:D004774	mondo.json	entropion|entropion (disease)	http://purl.obolibrary.org/obo/MONDO_0001519	http://identifiers.org/mesh/D004774|UMLS:C0014390|DOID:12397|http://identifiers.org/snomedct/33168009	
HGNC:5024	biolink:NamedThing	HNF4A			mondo.json		http://identifiers.org/hgnc/5024		
HGNC:7685	biolink:NamedThing	NDUFA2			mondo.json		http://identifiers.org/hgnc/7685		
MONDO:0001532	biolink:Disease	capillariasis	A infectious disease involving the Capillaria.	ICD9:127.5|UMLS:C0006897|DOID:12474|SCTID:52979002	mondo.json	Capillaria infection|infections, Capillaria	http://purl.obolibrary.org/obo/MONDO_0001532	http://identifiers.org/snomedct/52979002|DOID:12474|UMLS:C0006897	
MONDO:0001531	biolink:Disease	blood coagulation disease	A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood.	ICD9:286|SCTID:64779008|ICD9:286.9|ICD9:287.8|NCIT:C2902|DOID:1247|MESH:D001778	mondo.json	blood coagulation disorder|coagulation disorders, blood|coagulopathy|disorder, blood coagulation|coagulation disorder, blood|coagulation defect|coagulation disorder|postpartum coagulation defect|disorders, blood coagulation|postpartum coagulation defect with delivery	http://purl.obolibrary.org/obo/MONDO_0001531	DOID:1247|http://identifiers.org/snomedct/64779008|NCIT:C2902|http://identifiers.org/mesh/D001778	
HGNC:404	biolink:NamedThing	ALDH2			mondo.json		http://identifiers.org/hgnc/404		
MONDO:0001530	biolink:Disease	secondary hyperparathyroidism of renal origin		UMLS:C0271847|SCTID:19034001|DOID:12465|ICD9:588.81|ICD10CM:N25.81	mondo.json	hyperparathyroidism due to renal insufficiency|secondary hyperparathyroidism (of renal origin)	http://purl.obolibrary.org/obo/MONDO_0001530	DOID:12465|http://identifiers.org/snomedct/19034001|http://purl.bioontology.org/ontology/ICD10CM/N25.81|UMLS:C0271847	
HGNC:403	biolink:NamedThing	ALDH3A2			mondo.json		http://identifiers.org/hgnc/403		
MONDO:0001536	biolink:Disease	vaginal leiomyoma	A benign smooth muscle neoplasm arising from the vagina. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	UMLS:C1336939|NCIT:C6373|DOID:125	mondo.json	leiomyoma of the vagina|vagina leiomyoma|leiomyoma of vagina|vaginal leiomyoma	http://purl.obolibrary.org/obo/MONDO_0001536	NCIT:C6373|UMLS:C1336939|DOID:125	
MONDO:0001535	biolink:Disease	vagus nerve disorder	A disease involving the vagus nerve.	DOID:12491|NCIT:C27591|MESH:D020421|ICD9:352.3|UMLS:C0152179|SCTID:73765005	mondo.json	Vagus nerve disorder|disorder of pneumogastric [10th] nerve|disease of vagus nerve|vagus nerve disease or disorder|disorder of vagus nerve|vagus nerve disease|disorder of vagal nerve|disease or disorder of vagus nerve	http://purl.obolibrary.org/obo/MONDO_0001535	http://identifiers.org/snomedct/73765005|DOID:12491|NCIT:C27591|http://identifiers.org/mesh/D020421|UMLS:C0152179	
MONDO:0001534	biolink:Disease	ocular hyperemia		SCTID:359610006|UMLS:C0155169|DOID:1248	mondo.json	hyperemia eye|hyperemia of conjunctiva	http://purl.obolibrary.org/obo/MONDO_0001534	http://identifiers.org/snomedct/359610006|UMLS:C0155169|DOID:1248	
MONDO:0001533	biolink:Disease	pes anserinus tendinitis or bursitis		ICD9:726.61|DOID:12475	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001533	DOID:12475	
UBERON:0010371	biolink:AnatomicalEntity	ecto-epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010371		
HP:0010551	biolink:PhenotypicFeature	Paraplegia/paraparesis	Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength.	UMLS:C4023792	mondo.json		http://purl.obolibrary.org/obo/HP_0010551		
UBERON:0010377	biolink:AnatomicalEntity	mesenchyme from somatopleure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010377		
HP:0010550	biolink:PhenotypicFeature	Paraplegia	Severe or complete weakness of both lower extremities with sparing of the upper extremities.	MSH:D010264|UMLS:C0030486|SNOMEDCT_US:60389000	mondo.json	Leg paralysis	http://purl.obolibrary.org/obo/HP_0010550		
UBERON:0010378	biolink:AnatomicalEntity	mesenchyme from splanchnopleure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010378		
NCBITaxon:134742	biolink:OrganismalEntity	Sigmodon alstoni		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_134742		
UBERON:0010375	biolink:AnatomicalEntity	pancreas dorsal primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010375		
UBERON:0010376	biolink:AnatomicalEntity	pancreas ventral primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010376		
MONDO:0013500	biolink:Disease	immunodeficiency 51		OMIM:613953|UMLS:C4310803|UMLS:C3151402|Orphanet:1334	mondo.json	immunodeficiency 51|candidiasis, familial, 5, formerly|candidiasis, familial, type 5|CANDF5|candidiasis, familial chronic mucocutaneous, autosomal recessive|IMD51|candidiasis, familial, 5	http://purl.obolibrary.org/obo/MONDO_0013500	UMLS:C4310803|https://omim.org/entry/613953	
CHEBI:39745	biolink:ChemicalSubstance	dihydrogenphosphate	A monovalent inorganic anion that consists of phosphoric acid in which one of the three OH groups has been deprotonated.		mondo.json	dihydrogen(tetraoxidophosphate)(1-)|DIHYDROGENPHOSPHATE ION|dihydrogentetraoxophosphate(1-)|dihydrogenphosphate|dihydrogentetraoxophosphate(V)|H2PO4(-)|[PO2(OH)2](-)|dihydroxidodioxidophosphate(1-)	http://purl.obolibrary.org/obo/CHEBI_39745		
HGNC:7698	biolink:NamedThing	NDUFB3			mondo.json		http://identifiers.org/hgnc/7698		
HGNC:5037	biolink:NamedThing	HNRNPDL			mondo.json		http://identifiers.org/hgnc/5037		
UBERON:0010368	biolink:AnatomicalEntity	pulmonary lobule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010368		
MONDO:0013503	biolink:Disease	candidiasis, familial, 6	Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17F gene.	UMLS:C3151405|OMIM:613956	mondo.json	familial chronic mucocutaneous candidiasis caused by mutation in IL17F|candidiasis, familial, 6, autosomal dominant|CANDF6|IL17F familial chronic mucocutaneous candidiasis|candidiasis, familial chronic mucocutaneous, autosomal dominant|candidiasis, familial, 6|candidiasis, familial, type 6	http://purl.obolibrary.org/obo/MONDO_0013503	UMLS:C3151405|https://omim.org/entry/613956	
MONDO:0013504	biolink:Disease	spermatogenic failure 8	Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene.	DOID:0070169|OMIM:613957|UMLS:C3151406	mondo.json	spermatogenic failure type 8|NR5A1 azoospermia|azoospermia caused by mutation in NR5A1|SPGF8|spermatogenic failure 8	http://purl.obolibrary.org/obo/MONDO_0013504	UMLS:C3151406|DOID:0070169|https://omim.org/entry/613957	
MONDO:0013501	biolink:Disease	frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VCP gene.	OMIM:613954|UMLS:C3151403|DOID:0060205	mondo.json	VCP amyotrophic lateral sclerosis|amyotrophic lateral sclerosis, with or without frontotemporal dementia|amyotrophic lateral sclerosis caused by mutation in VCP	http://purl.obolibrary.org/obo/MONDO_0013501	UMLS:C3151403|DOID:0060205|https://omim.org/entry/613954	
MONDO:0013502	biolink:Disease	amyloidosis, primary localized cutaneous, 2		OMIM:613955|UMLS:C3151404	mondo.json	PLCA2|amyloidosis, primary localized cutaneous, type 2|amyloidosis, primary localized cutaneous, 2	http://purl.obolibrary.org/obo/MONDO_0013502	UMLS:C3151404|https://omim.org/entry/613955	
MONDO:0001529	biolink:Disease	pancytopenia	A finding of low numbers of red and white blood cells and platelets in the peripheral blood.	DOID:12450|SCTID:127034005|UMLS:C0030312|ICD9:284.89|MESH:D010198|NCIT:C34889|ICD9:284.1	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001529	UMLS:C0030312|NCIT:C34889|http://identifiers.org/mesh/D010198|DOID:12450|http://identifiers.org/snomedct/127034005	
MONDO:0001528	biolink:Disease	vulva cancer	A primary or metastatic malignant neoplasm involving the vulva.	SCTID:363367000|DOID:1245|MESH:D014846|ICD9:184.4|GARD:0009349|NCIT:C7502	mondo.json	vulval neoplasm|malignant vulvar tumor|Ca vulva|malignant mammalian vulva neoplasm|malignant neoplasm of the vulva|malignant neoplasm of vulva|cancer of mammalian vulva|malignant vulva tumor|malignant tumor of the vulva|malignant neoplasm of vulva, unspecified|malignant tumor of vulva|vulvar cancer|malignant neoplasm of vulva unspecified|malignant vulva neoplasm|neoplasm of vulva|vulval cancer|malignant neoplasm of mammalian vulva|mammalian vulva cancer|malignant vulvar neoplasm	http://purl.obolibrary.org/obo/MONDO_0001528	http://identifiers.org/mesh/D014846|NCIT:C7502|DOID:1245|http://identifiers.org/snomedct/363367000	
HGNC:7690	biolink:NamedThing	NDUFA6			mondo.json		http://identifiers.org/hgnc/7690		
HGNC:7693	biolink:NamedThing	NDUFA9			mondo.json		http://identifiers.org/hgnc/7693		
MONDO:0001527	biolink:Disease	conjugate gaze palsy		SCTID:1534008|DOID:12445|UMLS:C0702143|ICD9:378.81	mondo.json	palsy of conjugate gaze	http://purl.obolibrary.org/obo/MONDO_0001527	DOID:12445|UMLS:C0702143|http://identifiers.org/snomedct/1534008	
MONDO:0001526	biolink:Disease	labia minora cancer	A malignant neoplasm that affects the labia minora.	UMLS:C0496815|DOID:1243|ICD9:184.2|NCIT:C7637|ICD10CM:C51.1|SCTID:363447008	mondo.json	malignant tumor of the labia minora|malignant tumor of labia minora|malignant neoplasm of labia minora|malignant neoplasm of labium minora|malignant neoplasm of the labia minora|malignant labia minora tumor|labium minora cancer|malignant labium minora neoplasm|cancer of labium minora|malignant neoplasm of labium minus|malignant labia minora neoplasm	http://purl.obolibrary.org/obo/MONDO_0001526	http://identifiers.org/snomedct/363447008|NCIT:C7637|DOID:1243|http://purl.bioontology.org/ontology/ICD10CM/C51.1|UMLS:C0496815	
HGNC:5031	biolink:NamedThing	HNRNPA1			mondo.json		http://identifiers.org/hgnc/5031		
NCBITaxon:13373	biolink:OrganismalEntity	Burkholderia mallei		GC_ID:11|PMID:12734250|PMID:1283774|PMID:16558776	mondo.json	Pseudomonas mallei|Bacillus mallei|Pfeifferella mallei|Acinetobacter mallei|Malleomyces mallei|Actinobacillus mallei|Loefferella mallei	http://purl.obolibrary.org/obo/NCBITaxon_13373		
HGNC:5033	biolink:NamedThing	HNRNPA2B1			mondo.json		http://identifiers.org/hgnc/5033		
MONDO:0001503	biolink:Disease	primary eye hypotony		UMLS:C0154782|ICD9:360.31|DOID:12349|SCTID:2251002	mondo.json	primary hypotony of eye	http://purl.obolibrary.org/obo/MONDO_0001503	http://identifiers.org/snomedct/2251002|DOID:12349|UMLS:C0154782	
MONDO:0001502	biolink:Disease	retroperitoneum carcinoma	A carcinoma that arises from epithelial cells of the retroperitoneal space.	UMLS:C0948749|NCIT:C7352|DOID:12342	mondo.json	carcinoma of the retroperitoneum|carcinoma of retroperitoneal space|carcinoma of retroperitoneum|retroperitoneal space carcinoma|retroperitoneal cancer|retroperitoneal carcinoma	http://purl.obolibrary.org/obo/MONDO_0001502	UMLS:C0948749|NCIT:C7352|DOID:12342	
MONDO:0001501	biolink:Disease	retroperitoneal sarcoma	A sarcoma involving a retroperitoneal space.	DOID:12341|SCTID:307219002|UMLS:C0585129|NCIT:C4832	mondo.json	retroperitoneal space sarcoma|retroperitoneal sarcoma|sarcoma of retroperitoneal space	http://purl.obolibrary.org/obo/MONDO_0001501	http://identifiers.org/snomedct/307219002|DOID:12341|UMLS:C0585129|NCIT:C4832	
MONDO:0001500	biolink:Disease	gender identity disorder	A disorder characterized by a strong and persistent cross-gender identification (such as stating a desire to be the other sex or frequently passing as the other sex) coupled with persistent discomfort with his or her sex (manifested in adults, for example, as a preoccupation with altering primary and secondary sex characteristics through hormonal manipulation or surgery).	ICD9:302.89|DOID:1234|ICD9:302.8|ICD9:302.6|ICD9:302.85|SCTID:87991007|EFO:0008587|NCIT:C94362	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001500	NCIT:C94362|http://identifiers.org/snomedct/87991007|DOID:1234	
NCBITaxon:1649845	biolink:OrganismalEntity	Yersinia pseudotuberculosis complex		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1649845		
UBERON:0010362	biolink:AnatomicalEntity	endoskeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010362		
UBERON:0010363	biolink:AnatomicalEntity	endochondral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010363		
UBERON:0010360	biolink:AnatomicalEntity	pharyngeal arch mesenchyme from head mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010360		
HP:0010541	biolink:PhenotypicFeature	Cutis gyrata of scalp	The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction.	UMLS:C4072877|SNOMEDCT_US:51603000|UMLS:C4280378|UMLS:C0263417	mondo.json	Thickened folds on top of scalp|Scalp folds|Cutis verticis gyrata|Thickening of the scalp|Furrows in thickened skin on top of scalp|Scalp furrows	http://purl.obolibrary.org/obo/HP_0010541		
UBERON:0010366	biolink:AnatomicalEntity	conjunctival vasculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010366		
UBERON:0010367	biolink:AnatomicalEntity	conjunctival vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010367		
UBERON:0010364	biolink:AnatomicalEntity	dermal skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010364		
NCBITaxon:27994	biolink:OrganismalEntity	Theileriidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_27994		
UBERON:0010365	biolink:AnatomicalEntity	odontoid tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010365		
UBERON:0010359	biolink:AnatomicalEntity	pharyngeal arch mesenchyme from neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010359		
UBERON:0010358	biolink:AnatomicalEntity	arch of centrum of vertebra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010358		
HP:0010549	biolink:PhenotypicFeature	Weakness due to upper motor neuron dysfunction	Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons.	UMLS:C4021255	mondo.json	Paralysis due to lesions of the principle motor tracts	http://purl.obolibrary.org/obo/HP_0010549		
HGNC:5042	biolink:NamedThing	HNRNPH2			mondo.json		http://identifiers.org/hgnc/5042		
HGNC:5044	biolink:NamedThing	HNRNPK			mondo.json		http://identifiers.org/hgnc/5044		
MONDO:0001510	biolink:Disease	lateral displacement of eye		DOID:12360|ICD9:376.36|SCTID:48747004|UMLS:C0155272	mondo.json	lateral displacement of globe	http://purl.obolibrary.org/obo/MONDO_0001510	DOID:12360|UMLS:C0155272|http://identifiers.org/snomedct/48747004	
GO:1990542	biolink:NamedThing	mitochondrial transmembrane transport	The process in which a solute is transported from one side of a membrane to the other into, out of or within a mitochondrion.		mondo.json		http://purl.obolibrary.org/obo/GO_1990542		
CHEBI:76712	biolink:ChemicalSubstance	EC 4.2.* (C-O lyase) inhibitor	A lyase inhibitor which inhibits the action of a C-O lyase (EC 4.2.*.*).		mondo.json	EC 4.2.* inhibitor|EC 4.2.* inhibitors|C-O lyase inhibitor|C-O lyase (EC 4.2.*) inhibitors|EC 4.2.* (C-O lyase) inhibitors|C-O lyase inhibitors|C-O lyase (EC 4.2.*) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76712		
MONDO:0001514	biolink:Disease	prolapse of urethra	Prolapse of the urethral mucosa from the exterior urethral opening.	ICD9:599.5|UMLS:C0238502|ICD10CM:N81.0|DOID:12369|SCTID:12068006|ICD9:618.03	mondo.json	urethrocele	http://purl.obolibrary.org/obo/MONDO_0001514	UMLS:C0238502|DOID:12369|http://identifiers.org/snomedct/12068006|http://purl.bioontology.org/ontology/ICD10CM/N81.0	
MONDO:0001513	biolink:Disease	pulsating exophthalmos		SCTID:2284002|UMLS:C0155271|ICD9:376.35|DOID:12364	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001513	http://identifiers.org/snomedct/2284002|UMLS:C0155271|DOID:12364	
MONDO:0001512	biolink:Disease	intermittent proptosis		UMLS:C0155270|SCTID:49774006|ICD9:376.34|DOID:12363	mondo.json	intermittent exophthalmos	http://purl.obolibrary.org/obo/MONDO_0001512	http://identifiers.org/snomedct/49774006|DOID:12363|UMLS:C0155270	
MONDO:0001511	biolink:Disease	thyrotoxic exophthalmos		UMLS:C0155265|SCTID:19885005|ICD9:376.21|DOID:12362	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001511	http://identifiers.org/snomedct/19885005|UMLS:C0155265|DOID:12362	
UBERON:0010355	biolink:AnatomicalEntity	ossification center			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010355		
NCBITaxon:62324	biolink:OrganismalEntity	Anopheles funestus		GC_ID:1	mondo.json	African malaria mosquito	http://purl.obolibrary.org/obo/NCBITaxon_62324		
UBERON:0010349	biolink:AnatomicalEntity	otic capsule pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010349		
UBERON:0010347	biolink:AnatomicalEntity	6th arch mesenchyme from head mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010347		
HP:0010535	biolink:PhenotypicFeature	Sleep apnea	An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.	MSH:D012891|UMLS:C0037315|SNOMEDCT_US:73430006	mondo.json	Pauses in breathing while sleeping|Sleep apnoea	http://purl.obolibrary.org/obo/HP_0010535		
MONDO:0001507	biolink:Disease	viral labyrinthitis	An labyrinthitis caused by infection with Viruses.	ICD9:386.35|UMLS:C0155508|SCTID:409711008|DOID:12357	mondo.json	Viruses caused labyrinthitis|epidemic vertigo (finding)|Viruses labyrinthitis|epidemic vertigo	http://purl.obolibrary.org/obo/MONDO_0001507	DOID:12357|UMLS:C0155508|http://identifiers.org/snomedct/409711008	
MONDO:0001506	biolink:Disease	prostatocystitis		ICD10CM:N41.3|SCTID:67685000|ICD9:601.3|DOID:12355|UMLS:C0156291	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001506	http://purl.bioontology.org/ontology/ICD10CM/N41.3|UMLS:C0156291|DOID:12355|http://identifiers.org/snomedct/67685000	
MONDO:0001505	biolink:Disease	alcoholic hepatitis	Acute hepatitis resulting from ingestion of alcohol.	SCTID:235875008|DOID:12351|UMLS:C0001306|NCIT:C34684|ICD9:571.1|ICD10CM:K70.1|CSP:1754-6978|MESH:D006519	mondo.json	acute alcoholic Hepatitis|acute alcoholic liver disease|alcoholic Hepatitis|acute alcoholic hepatitis|alcoholic hepatitis	http://purl.obolibrary.org/obo/MONDO_0001505	http://purl.bioontology.org/ontology/ICD10CM/K70.1|UMLS:C0001306|NCIT:C34684|DOID:12351|http://identifiers.org/mesh/D006519|http://identifiers.org/snomedct/235875008	
MONDO:0001504	biolink:Disease	fetishism	A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the use of nonliving objects such as women's wearing apparel (the "fetish").	ICD10CM:F65.0|DOID:1235|ICD9:302.81|NCIT:C94353|MESH:D005329|SCTID:59174009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001504	NCIT:C94353|http://identifiers.org/snomedct/59174009|DOID:1235|http://identifiers.org/mesh/D005329|http://purl.bioontology.org/ontology/ICD10CM/F65.0	
CHEBI:76710	biolink:ChemicalSubstance	EC 4.* (lyase) inhibitor	An enzyme inhibitor which interferes with the action of a lyase (EC 4.*.*.*). Lyases are enzymes cleaving C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation.		mondo.json	EC 4.* inhibitors|EC 4.* inhibitor|lyase (EC 4.*) inhibitor|EC 4.*.*.* inhibitors|lyase inhibitors|EC 4.*.*.* inhibitor|lyase inhibitor|EC 4.* (lyase) inhibitors|lyase (EC 4.*) inhibitorS	http://purl.obolibrary.org/obo/CHEBI_76710		
OIO:hasAlternativeId	biolink:NamedThing	has_alternative_id			mondo.json		http://www.geneontology.org/formats/oboInOwl#hasAlternativeId		
MONDO:0001509	biolink:Disease	endocrine exophthalmos	Progressive inflammation and damage to tissues around the eyes, especially extraocular muscle, connective, and fatty tissue occurring in patients with hyperthyroidism or a history of hyperthyroidism due to Graves’ disease.	UMLS:C0155264|SCTID:276177000|DOID:12359|ICD9:376.2	mondo.json	TED|Graves’ ophthalmopathy|thyroid eye disease|Graves’ orbitopathy|Graves’ eye disease|thyroid-associated ophthalmopathy	http://purl.obolibrary.org/obo/MONDO_0001509	http://identifiers.org/snomedct/276177000|DOID:12359|UMLS:C0155264	
MONDO:0001508	biolink:Disease	patulous eustachian tube	A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection.	UMLS:C0155434|GARD:0010812|ICD9:381.7|ICD10CM:H69.0|SCTID:30280005|DOID:12358	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001508	http://identifiers.org/snomedct/30280005|http://purl.bioontology.org/ontology/ICD10CM/H69.0|UMLS:C0155434|DOID:12358	
MONDO:0001565	biolink:Disease	abnormal retinal correspondence		ICD9:368.34|ICD10CM:H53.31|UMLS:C0155010|SCTID:79195003|DOID:12668	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001565	DOID:12668|http://purl.bioontology.org/ontology/ICD10CM/H53.31|http://identifiers.org/snomedct/79195003|UMLS:C0155010	
MONDO:0001564	biolink:Disease	binocular vision disease	Any inability to efficiently utilize and/or sustain binocular vision.	ICD9:368.30|NCIT:C34422|SCTID:83275001|DOID:12667	mondo.json	binocular vision disorder|simultaneous visual perception without fusion	http://purl.obolibrary.org/obo/MONDO_0001564	DOID:12667|http://identifiers.org/snomedct/83275001|NCIT:C34422	
CHEBI:76725	biolink:ChemicalSubstance	EC 1.* (oxidoreductase) inhibitor	An enzyme inhibitor which interferes with the action of an oxidoreductase (EC 1.*.*.*).		mondo.json	EC 1.* (oxidoreductase) inhibitors|oxidoreductase inhibitors|oxidoreductase (EC 1.*) inhibitors|EC 1.* inhibitor|EC 1.* inhibitors|oxidoreductase inhibitor|oxidoreductase (EC 1.*) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76725		
MONDO:0001563	biolink:Disease	vestibulocochlear nerve disorder	A disease involving the vestibulocochlear nerve.	NCIT:C27207|UMLS:C0001163|MESH:D000160|ICD9:388.5|SCTID:77949003|DOID:12657	mondo.json	acoustic nerve disorder|disorder of vestibulocochlear nerve|disorder of the vestibulocochlear nerve|disorder of eighth nerve|disorder of acoustic nerve|vestibulocochlear nerve disease|vestibulocochlear nerve disorder|disorder of acoustovestibular nerve|disease or disorder of vestibulocochlear nerve|acoustic nerve disease|disease of vestibulocochlear nerve|vestibulocochlear nerve disease or disorder|acoustic nerve disorder NOS	http://purl.obolibrary.org/obo/MONDO_0001563	UMLS:C0001163|http://identifiers.org/mesh/D000160|http://identifiers.org/snomedct/77949003|NCIT:C27207|DOID:12657	
MONDO:0001562	biolink:Disease	displacement of cardia through esophageal hiatus		DOID:12641|SCTID:47028006|ICD10CM:Q40.1|ICD9:750.6	mondo.json	congenital hiatus hernia	http://purl.obolibrary.org/obo/MONDO_0001562	http://purl.bioontology.org/ontology/ICD10CM/Q40.1|http://identifiers.org/snomedct/47028006|DOID:12641	
MONDO:0001569	biolink:Disease	acoustic neuroma	A type of benign brain tumor that begins in the Schwann cells, which produce the myelin that protects the acoustic nerve - the nerve of hearing.	Orphanet:252175|DOID:12689|MESH:D009464|CSP:2012-6947|MedDRA:10000523|HP:0009588|NCIT:C3276|SCTID:126949007|GARD:0000223	mondo.json	acoustic neurilemmoma|neurinoma of the acoustic nerve|vestibular neurilemmoma|acoustic neurinoma|acoustic schwannoma|vestibular schwannoma|vestibular schwannoma (disease)|neurilemoma, acoustic|acoustic tumor|acoustic neurilemoma|acoustic neuroma|neuroma, acoustic	http://purl.obolibrary.org/obo/MONDO_0001569	Orphanet:252175|DOID:12689|NCIT:C3276|http://identifiers.org/snomedct/126949007|http://identifiers.org/mesh/D009464	ordo_clinical_subtype|gard_rare
CHEBI:76729	biolink:ChemicalSubstance	EC 1.3.* (oxidoreductase acting on donor CH-CH group) inhibitor	An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on the CH-CH group of donors (EC 1.3.*.*).		mondo.json	inhibitors of oxidoreductase acting on CH-CH group of donor|EC 1.3.* (oxidoreductase acting on donor CH-CH group) inhibitors|oxidoreductase acting on donor CH-CH group (EC 1.3.*) inhibitors|inhibitor of oxidoreductase acting on CH-CH group of donor|EC 1.3.* inhibitor|EC 1.3.* inhibitors|oxidoreductase acting on donor CH-CH group (EC 1.3.*) inhibitor|inhibitor of oxidoreductase acting on CH-CH group of donors|inhibitors of oxidoreductase acting on CH-CH group of donors|oxidoreductase acting on donor CH-CH group inhibitors|oxidoreductase acting on donor CH-CH group inhibitor	http://purl.obolibrary.org/obo/CHEBI_76729		
MONDO:0001568	biolink:Disease	mixed receptive-expressive language disorder	A disorder characterized by an impairment in the development of an individual's expressive and receptive language capabilities which is in contrast to his/her nonverbal intellect. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult).	ICD9:315.32|DOID:12685|NCIT:C92563|SCTID:25766007|ICD10CM:F80.2	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001568	DOID:12685|http://identifiers.org/snomedct/25766007|NCIT:C92563|http://purl.bioontology.org/ontology/ICD10CM/F80.2	
MONDO:0001567	biolink:Disease	nephrocalcinosis	Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys.	MESH:D009397|NCIT:C84918|GARD:0007177|UMLS:C0027709|ICD9:275.49|SCTID:48638002|DOID:12679	mondo.json	hypercalcemic nephropathy	http://purl.obolibrary.org/obo/MONDO_0001567	DOID:12679|NCIT:C84918|UMLS:C0027709|http://identifiers.org/mesh/D009397|http://identifiers.org/snomedct/48638002	gard_rare
CHEBI:76726	biolink:ChemicalSubstance	EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitor	An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on the CH-OH group of donors (EC 1.1.*.*).		mondo.json	EC 1.1.* inhibitors|inhibitor of oxidoreductase acting on CH-OH group of donors|inhibitors of oxidoreductase acting on CH-OH group of donors|inhibitors of oxidoreductase acting on CH-OH group of donor|inhibitor of oxidoreductase acting on CH-OH group of donor|EC 1.1.* inhibitor|oxidoreductase acting on donor CH-OH group (EC 1.1.*) inhibitor|oxidoreductase acting on donor CH-OH group inhibitor|oxidoreductase acting on donor CH-OH group inhibitors|oxidoreductase acting on donor CH-OH group (EC 1.1.*) inhibitors|EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitors	http://purl.obolibrary.org/obo/CHEBI_76726		
MONDO:0001566	biolink:Disease	hypercalcemia disease	Abnormally high concentration of calcium in the peripheral blood.	SCTID:66931009|MESH:D006934|HP:0003072|NCIT:C3112|ICD9:275.42|ICD10CM:E83.52|UMLS:C0020437|DOID:12678	mondo.json	hypercalcemia	http://purl.obolibrary.org/obo/MONDO_0001566	http://identifiers.org/snomedct/66931009|DOID:12678|http://identifiers.org/mesh/D006934|NCIT:C3112|UMLS:C0020437|http://purl.bioontology.org/ontology/ICD10CM/E83.52	
MONDO:0013549	biolink:Disease	N-acetylaspartate deficiency		UMLS:C3279716|OMIM:614063	mondo.json	naa deficiency|NACED|hypoacetylaspartia|N-acetylaspartate deficiency	http://purl.obolibrary.org/obo/MONDO_0013549	UMLS:C3279716|https://omim.org/entry/614063	
MONDO:0001561	biolink:Disease	pyloric stenosis	Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer.	MESH:D011707|HP:0002021|SCTID:367403001|DOID:12639|NCIT:C34966|DOID:3122|EFO:1000947|MedDRA:10062499|MESH:D017219	mondo.json	gastric outlet obstruction|pyloric stenosis (disease)|GOO|pyloric stenosis|gastric outflow obstruction	http://purl.obolibrary.org/obo/MONDO_0001561	http://identifiers.org/snomedct/367403001|DOID:3122|NCIT:C34966|http://identifiers.org/mesh/D011707|http://identifiers.org/mesh/D017219|DOID:12639	
MONDO:0001560	biolink:Disease	hypertrophic pyloric stenosis	An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration.	ICD10CM:Q40.0|EFO:0004707|ICD9:750.5|DOID:12638|NCIT:C98952|SCTID:48644003|MESH:D046248	mondo.json	congenital pyloric stenosis|infantile Hypertrophy of the pylorus|congenital constriction of the pylorus|infantile stricture of the pylorus|infantile hypertrophic pyloric stenosis|IHPS|congenital hypertrophic pyloric stenosis|infantile pyloric stenosis|congenital Hypertrophy of the pylorus|infantile constriction of the pylorus|congenital stricture of the pylorus|congenital or infantile stricture of pylorus|pyloric stenosis, infantile	http://purl.obolibrary.org/obo/MONDO_0001560	NCIT:C98952|http://identifiers.org/snomedct/48644003|http://purl.bioontology.org/ontology/ICD10CM/Q40.0|DOID:12638|http://identifiers.org/mesh/D046248	
MONDO:0013554	biolink:Disease	psoriasis 13, susceptibility to	Any psoriasis in which the cause of the disease is a mutation in the TRAF3IP2 gene.	DOID:0111287|OMIM:614070	mondo.json	PSORS13|susceptibility to psoriasis 13|psoriasis susceptibility 13|TRAF3IP2 psoriasis|psoriasis caused by mutation in TRAF3IP2|psoriasis 13, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0013554	DOID:0111287|https://omim.org/entry/614070	predisposition
MONDO:0013555	biolink:Disease	Hermansky-Pudlak syndrome 3	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene.	OMIM:614072|UMLS:C3888001|DOID:0060541	mondo.json	Hermansky-Pudlak syndrome type 3|Hermansky-Pudlak syndrome caused by mutation in HPS3|HPS3|Hermansky-Pudlak syndrome 3|HPS3 Hermansky-Pudlak syndrome	http://purl.obolibrary.org/obo/MONDO_0013555	DOID:0060541|UMLS:C3888001|https://omim.org/entry/614072	
MONDO:0013552	biolink:Disease	hereditary spastic paraplegia 52	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene.	UMLS:C3279743|DOID:0110804|OMIM:614067	mondo.json	hereditary spastic paraplegia caused by mutation in AP4S1|hereditary spastic paraplegia type 52|cerebral palsy, spastic quadriplegic, 6, formerly|cerebral palsy, spastic quadriplegic, 6|autosomal recessive spastic paraplegia 52|hereditary spastic paraplegia 52|spastic paraplegia 52, autosomal recessive|AP4S1 hereditary spastic paraplegia|CPSQ6|SPG52|spastic quadriplegic cerebral palsy 6	http://purl.obolibrary.org/obo/MONDO_0013552	UMLS:C3279743|https://omim.org/entry/614067|DOID:0110804	
MONDO:0013553	biolink:Disease	immunodeficiency-centromeric instability-facial anomalies syndrome 2	Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the ZBTB24 gene.	OMIM:614069|DOID:0090009|UMLS:C3279748	mondo.json	ICF2|immunodeficiency-centromeric instability-facial anomalies syndrome type 2|ZBTB24 immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency-centromeric instability-facial anomalies syndrome 2|immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in ZBTB24|immunodeficiency-centromeric instability-Facial anomalies syndrome type 2|ICF syndrome 2	http://purl.obolibrary.org/obo/MONDO_0013553	DOID:0090009|UMLS:C3279748|https://omim.org/entry/614069	
MONDO:0013558	biolink:Disease	Hermansky-Pudlak syndrome 6	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene.	DOID:0060544|OMIM:614075|NCIT:C150369|UMLS:C3888007	mondo.json	Hermansky-Pudlak syndrome caused by mutation in HPS6|HPS6|Hermansky-Pudlak syndrome type 6|HPS6 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 6	http://purl.obolibrary.org/obo/MONDO_0013558	https://omim.org/entry/614075|DOID:0060544|UMLS:C3888007|NCIT:C150369	
MONDO:0013559	biolink:Disease	Hermansky-Pudlak syndrome 7	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene.	UMLS:C3279756|DOID:0060545|Orphanet:231531|ICD10CM:E70.3|OMIM:614076	mondo.json	DTNBP1 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome caused by mutation in DTNBP1|Hermansky-Pudlak syndrome type 7|HPS7|Hermansky-Pudlak syndrome 7	http://purl.obolibrary.org/obo/MONDO_0013559	https://omim.org/entry/614076|DOID:0060545|Orphanet:231531|UMLS:C3279756	ordo_clinical_subtype
MONDO:0013556	biolink:Disease	Hermansky-Pudlak syndrome 4	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene.	OMIM:614073|DOID:0060542|UMLS:C3484357	mondo.json	Hermansky-Pudlak syndrome type 4|Hermansky-Pudlak syndrome caused by mutation in HPS4|HPS4|HPS4 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 4	http://purl.obolibrary.org/obo/MONDO_0013556	DOID:0060542|UMLS:C3484357|https://omim.org/entry/614073	
MONDO:0013557	biolink:Disease	Hermansky-Pudlak syndrome 5	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene.	OMIM:614074|UMLS:C3888004|DOID:0060543	mondo.json	Hermansky-Pudlak syndrome caused by mutation in HPS5|HPS5|Hermansky-Pudlak syndrome type 5|HPS5 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 5	http://purl.obolibrary.org/obo/MONDO_0013557	DOID:0060543|UMLS:C3888004|https://omim.org/entry/614074	
MONDO:0001559	biolink:Disease	perineocele		DOID:12637|ICD9:618.05|ICD10CM:N81.81	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001559	DOID:12637|http://purl.bioontology.org/ontology/ICD10CM/N81.81	
MONDO:0013550	biolink:Disease	distal myopathy with posterior leg and anterior hand involvement	Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.	OMIM:614065|UMLS:C3279722|SCTID:733489002|Orphanet:63273|UMLS:C4518807	mondo.json	myopathy, distal, 4|MPD4|myopathy, distal, type 4|Williams distal myopathy|distal ABD-filaminopathy	http://purl.obolibrary.org/obo/MONDO_0013550	Orphanet:63273|http://identifiers.org/snomedct/733489002|UMLS:C4518807|UMLS:C3279722|https://omim.org/entry/614065	ordo_disease
MONDO:0013551	biolink:Disease	hereditary spastic paraplegia 47	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene.	NCIT:C164224|DOID:0110799|UMLS:C3279738|OMIM:614066	mondo.json	spastic paraplegia 47, autosomal recessive|CPSQ5|hereditary spastic paraplegia 47|cerebral palsy, spastic quadriplegic, 5, formerly|cerebral palsy, spastic quadriplegic, 5|AP4B1 hereditary spastic paraplegia|spastic quadriplegic cerebral palsy 5|SPG47|autosomal recessive spastic paraplegia 47|hereditary spastic paraplegia type 47|hereditary spastic paraplegia caused by mutation in AP4B1	http://purl.obolibrary.org/obo/MONDO_0013551	NCIT:C164224|UMLS:C3279738|https://omim.org/entry/614066|DOID:0110799	
MONDO:0001576	biolink:Disease	telangiectasis	Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes.	DOID:1272|NCIT:C28194|SCTID:247479008|MESH:D013684|UMLS:C0039446	mondo.json	telangiectasia	http://purl.obolibrary.org/obo/MONDO_0001576	UMLS:C0039446|http://identifiers.org/snomedct/247479008|http://identifiers.org/mesh/D013684|NCIT:C28194|DOID:1272	
CHEBI:76736	biolink:ChemicalSubstance	EC 1.9.* (oxidoreductase acting on donor heme group) inhibitor	An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on a heme group of donors (EC 1.9.*.*).		mondo.json	EC 1.9.* (oxidoreductase acting on a heme group of donors) inhibitor|EC 1.9.* (oxidoreductase acting on a heme group of donors) inhibitors|oxidoreductase acting on a heme group of donors (EC 1.9.*) inhibitors|EC 1.9.* inhibitors|EC 1.9.* inhibitor|EC 1.9.* (oxidoreductase acting on donor heme group) inhibitors|oxidoreductase acting on a heme group of donors (EC 1.9.*) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76736		
MONDO:0001575	biolink:Disease	chronic gonococcal salpingitis	Chronic form of gonococcal salpingitis.	ICD9:098.37|UMLS:C0153208|SCTID:53529004|DOID:12718	mondo.json	gonococcal salpingitis|gonococcal salpingitis, chronic	http://purl.obolibrary.org/obo/MONDO_0001575	UMLS:C0153208|http://identifiers.org/snomedct/53529004|DOID:12718	
MONDO:0001574	biolink:Disease	capillary disorder	A disease involving a capillary.	DOID:1271|UMLS:C0155765|ICD9:448|ICD9:448.9|SCTID:58729003	mondo.json	disorder of capillary|capillary disease|disease or disorder of capillary|disease of capillaries|disease of capillary|capillary disease or disorder	http://purl.obolibrary.org/obo/MONDO_0001574	http://identifiers.org/snomedct/58729003|DOID:1271|UMLS:C0155765	
MONDO:0001573	biolink:Disease	obsolete Friedreich ataxia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001573		
MONDO:0001579	biolink:Disease	corneal staphyloma		DOID:12753|UMLS:C0152440|SCTID:52476003|ICD9:371.73	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001579	DOID:12753|http://identifiers.org/snomedct/52476003|UMLS:C0152440	
MONDO:0001578	biolink:Disease	obsolete hernia of ovary and fallopian tube		DOID:12735|ICD9:620.4	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001578	DOID:12735	
MONDO:0001577	biolink:Disease	respiratory syncytial virus infectious disease	Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children.	EFO:1001413|NCIT:C3354|SCTID:55735004|UMLS:C0035235|MESH:D018357|DOID:1273	mondo.json	Human respiratory syncytial virus infection|respiratory syncytial virus infection|infections, Human respiratory syncytial virus	http://purl.obolibrary.org/obo/MONDO_0001577	NCIT:C3354|http://identifiers.org/snomedct/55735004|UMLS:C0035235|DOID:1273|http://identifiers.org/mesh/D018357	
CHEBI:76738	biolink:ChemicalSubstance	EC 1.11.* (oxidoreductase acting on peroxide as donors) inhibitor	An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on peroxide as donors (EC 1.11.*.*).		mondo.json	EC 1.11.* (oxidoreductase acting on peroxide as donors) inhibitors|oxidoreductase acting on peroxide as donors (EC 1.11.*) inhibitors|EC 1.11.* inhibitor|oxidoreductases acting on peroxide as donors (EC 1.11.*) inhibitors|EC 1.11.* (oxidoreductases acting on peroxide as donors) inhibitors|oxidoreductases acting on peroxide as donors (EC 1.11.*) inhibitor|EC 1.11.* (oxidoreductases acting on peroxide as donors) inhibitor|EC 1.11.* inhibitors|oxidoreductase acting on peroxide as donors (EC 1.11.*) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76738		
MONDO:0013538	biolink:Disease	obsolete alpha-2-macroglobulin deficiency		OMIM:614036|UMLS:C3279661|MESH:C566304	mondo.json	ALPHA-2-macroglobulin deficiency|alpha-2-macroglobulin deficiency|A2MD	http://purl.obolibrary.org/obo/MONDO_0013538	UMLS:C3279661|https://omim.org/entry/614036|http://identifiers.org/mesh/C566304	
MONDO:0013539	biolink:Disease	hypotonia-failure to thrive-microcephaly syndrome	Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.	Orphanet:79507|OMIM:614037|SCTID:717185008|MESH:C565439|UMLS:C3279662	mondo.json	leukotriene C4 synthase deficiency|LTC4 synthase deficiency	http://purl.obolibrary.org/obo/MONDO_0013539	http://identifiers.org/mesh/C565439|UMLS:C3279662|Orphanet:79507|https://omim.org/entry/614037|http://identifiers.org/snomedct/717185008	ordo_disease
MONDO:0001572	biolink:Disease	leiomyoma	A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	ICDO:8890/0|MESH:D007889|SCTID:146801000119103|UMLS:C0023267|NCIT:C3157|DOID:127|ICD9:215.9	mondo.json	leiomyomatous tumor|leiomyoma|fibroid|fibroid tumor|leiomyomatous neoplasm|leiomyomatous neoplasm (morphologic abnormality)|leiomyoma, benign|fibroid neoplasm	http://purl.obolibrary.org/obo/MONDO_0001572	NCIT:C3157|DOID:127|http://identifiers.org/snomedct/146801000119103|UMLS:C0023267|http://identifiers.org/mesh/D007889	
MONDO:0001571	biolink:Disease	gynecomastia disorder	Development of breast tissue in males.	NCIT:C3073|SCTID:4754008|HP:0000771|MESH:D006177|UMLS:C0018418|DOID:12698	mondo.json	male organism hypertrophy of breast|hypertrophy of breast of male organism	http://purl.obolibrary.org/obo/MONDO_0001571	NCIT:C3073|http://identifiers.org/snomedct/4754008|http://identifiers.org/mesh/D006177|UMLS:C0018418|DOID:12698	
MONDO:0001570	biolink:Disease	obsolete locked-in syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001570		
MONDO:0013543	biolink:Disease	trypsinogen deficiency		OMIM:614044|UMLS:C0268417|SCTID:190953007|ICD9:277.89	mondo.json	trypsinogen deficiency	http://purl.obolibrary.org/obo/MONDO_0013543	http://identifiers.org/snomedct/190953007|UMLS:C0268417|https://omim.org/entry/614044	
MONDO:0013544	biolink:Disease	atrial fibrillation, familial, 11	Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene.	UMLS:C3279693|OMIM:614049	mondo.json	atrial fibrillation, familial, 11|atrial fibrillation, familial, type 11|familial atrial fibrillation caused by mutation in GJA5|ATFB11|GJA5 familial atrial fibrillation	http://purl.obolibrary.org/obo/MONDO_0013544	https://omim.org/entry/614049|UMLS:C3279693	
MONDO:0013541	biolink:Disease	complex cortical dysplasia with other brain malformations 1	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene.	GARD:0013032|OMIM:614039|DOID:0090137|UMLS:CN203402|Orphanet:300570	mondo.json	complex cortical dysplasia with other brain malformations caused by mutation in TUBB3|complex cortical dysplasia with other brain malformations type 1|cortical dysplasia, complex, with other brain malformations 1|CDCBM1|TUBB3 complex cortical dysplasia with other brain malformations|cortical dysplasia, Complex, with Other brain malformations type 1|cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	http://purl.obolibrary.org/obo/MONDO_0013541	Orphanet:300570|UMLS:CN203402|DOID:0090137|https://omim.org/entry/614039	ordo_disease
MONDO:0013542	biolink:Disease	Moyamoya disease 5	Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene.	OMIM:614042|UMLS:C3279690	mondo.json	Moyamoya disease caused by mutation in ACTA2|MYMY5|ACTA2 Moyamoya disease|Moyamoya disease type 5|Moyamoya disease 5	http://purl.obolibrary.org/obo/MONDO_0013542	UMLS:C3279690|https://omim.org/entry/614042	
MONDO:0013547	biolink:Disease	mitochondrial complex V (ATP synthase) deficiency nuclear type 3	Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene.	OMIM:614053|UMLS:C3279708|DOID:0060332	mondo.json	mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 3|mitochondrial complex V (ATP synthase) deficiency, nuclear type 3|ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiency|MC5DN3|mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATP5F1E|mitochondrial Complex 5 (ATP synthase) deficiency, Atp5E type	http://purl.obolibrary.org/obo/MONDO_0013547	https://omim.org/entry/614053|DOID:0060332|UMLS:C3279708	
MONDO:0013548	biolink:Disease	acetyl-CoA acetyltransferase-2 deficiency		MESH:C536005|UMLS:C0342735|OMIM:614055|GARD:0009154	mondo.json	Acetyl CoA acetyltransferase 2 deficiency|ACAT2|Acat2 deficiency|ACAT2D|Acetocoenzyme A acetyltransferase 2|ACAT2 deficiency, Isolated cases|ACETYL-CoA acetyltransferase-2 deficiency|acetyl-CoA acetyltransferase-2 deficiency|acetoacetyl CoA thiolase, cytosolic	http://purl.obolibrary.org/obo/MONDO_0013548	https://omim.org/entry/614055|UMLS:C0342735|http://identifiers.org/mesh/C536005	
MONDO:0013545	biolink:Disease	atrial fibrillation, familial, 12	Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene.	UMLS:C3279695|OMIM:614050	mondo.json	ATFB12|familial atrial fibrillation caused by mutation in ABCC9|atrial fibrillation, familial, 12|atrial fibrillation, familial, type 12|ABCC9 familial atrial fibrillation	http://purl.obolibrary.org/obo/MONDO_0013545	https://omim.org/entry/614050|UMLS:C3279695	
MONDO:0013546	biolink:Disease	mitochondrial complex V (ATP synthase) deficiency nuclear type 2	A mitochondrial complex deficiency characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.	DOID:0060331|OMIM:614052|MESH:C567528|GARD:0012965|SCTID:718212006|Orphanet:1194	mondo.json	mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 2|mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency|mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency|TMEM70 defect|mitochondrial Complex 5 (ATP synthase) deficiency, Tmem70 type|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency|mitochondrial complex V (ATP synthase) deficiency, nuclear type 2|MC5DN2|3-MGCA type IV (3-MGCA-4) (formerly)|encephalocardiomyopathy, mitochondrial, neonatal, due to ATP synthase deficiency|TMEM70-related mitochondrial encephalo-cardio-myopathy|neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency	http://purl.obolibrary.org/obo/MONDO_0013546	https://omim.org/entry/614052|DOID:0060331|http://identifiers.org/snomedct/718212006|Orphanet:1194|http://identifiers.org/mesh/C567528	ordo_disease
MONDO:0025518	biolink:Disease	obsolete aspirin allergy	OBSOLETE. A allergic disease involving a acetylsalicylic acid.	ICD9:995.27|DOID:0040002|SCTID:293586001|IEDB:RV	mondo.json	allergy of acetylsalicylic acid|ASA allergy|acetylsalicylic acid allergy|acetylsalicylic acid allergic disease	http://purl.obolibrary.org/obo/MONDO_0025518	http://identifiers.org/snomedct/293586001|DOID:0040002	
MONDO:0025517	biolink:Disease	obsolete shrimp allergy	OBSOLETE. A allergic disease involving a shrimp food product.	DOID:0040001	mondo.json	shrimp food product allergic disease|allergy of shrimp food product	http://purl.obolibrary.org/obo/MONDO_0025517	DOID:0040001	
CHEBI:76731	biolink:ChemicalSubstance	EC 1.5.* (oxidoreductase acting on donor CH-NH group) inhibitor	An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on the CH-NH group of donors (EC 1.5.*.*).		mondo.json	EC 1.5.* inhibitors|inhibitor of oxidoreductase acting on CH-NH group of donor|EC 1.5.* (oxidoreductase acting on donor CH-NH group) inhibitors|oxidoreductase acting on donor CH-NH group (EC 1.5.*) inhibitors|oxidoreductase acting on donor CH-NH group (EC 1.5.*) inhibitor|inhibitor of oxidoreductase acting on CH-NH group of donors|EC 1.5.* inhibitor|inhibitors of oxidoreductase acting on CH-NH group of donors|inhibitors of oxidoreductase acting on CH-NH group of donor	http://purl.obolibrary.org/obo/CHEBI_76731		
MONDO:0013540	biolink:Disease	deafness-lymphedema-leukemia syndrome	Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.	GARD:0013030|ICD9:757.0|SCTID:700057001|UMLS:C3279664|OMIM:614038|Orphanet:3226	mondo.json	deafness-lymphedema-leukemia syndrome|Emberger syndrome|lymphedema, primary, with myelodysplasia	http://purl.obolibrary.org/obo/MONDO_0013540	http://identifiers.org/snomedct/700057001|Orphanet:3226|UMLS:C3279664|https://omim.org/entry/614038	ordo_malformation_syndrome|gard_rare
MONDO:0025510	biolink:Disease	pythiosis	A granulomatous disease caused by the aquatic organism pythium insidiosum and occurring primarily in horses, cattle, dogs, cats, fishes, and rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial.	UMLS:C0276912|MESH:D058968|GARD:0011989|EFO:1001410	mondo.json	pythium insidiosum infection|human pythiosis	http://purl.obolibrary.org/obo/MONDO_0025510	UMLS:C0276912|http://identifiers.org/mesh/D058968	
MONDO:0001543	biolink:Disease	lesion of sciatic nerve	A peripheral nerve lesion that involves the sciatic nerve.	ICD9:355.0|SCTID:367137004|ICD10CM:G57.0|UMLS:C0154748|DOID:12528	mondo.json	sciatic nerve peripheral nerve lesion|peripheral nerve lesion of sciatic nerve	http://purl.obolibrary.org/obo/MONDO_0001543	DOID:12528|UMLS:C0154748|http://purl.bioontology.org/ontology/ICD10CM/G57.0|http://identifiers.org/snomedct/367137004	
MONDO:0001542	biolink:Disease	common peroneal nerve lesion	A peripheral nerve lesion that involves the common fibular nerve.	UMLS:C0270909|SCTID:399107008|ICD9:355.3|DOID:12527	mondo.json	peripheral nerve lesion of common fibular nerve|common fibular nerve peripheral nerve lesion	http://purl.obolibrary.org/obo/MONDO_0001542	DOID:12527|http://identifiers.org/snomedct/399107008|UMLS:C0270909	
MONDO:0001541	biolink:Disease	plantar nerve lesion	A peripheral nerve lesion that involves the plantar nerve.	DOID:12524|SCTID:193148004|UMLS:C0154752|ICD9:355.6	mondo.json	peripheral nerve lesion of plantar nerve|plantar nerve peripheral nerve lesion|lesion of plantar nerve	http://purl.obolibrary.org/obo/MONDO_0001541	DOID:12524|UMLS:C0154752|http://identifiers.org/snomedct/193148004	
MONDO:0025512	biolink:Disease	type II hypersensitivity reaction disease	A disease that has its basis in the disruption of type II hypersensitivity.	EFO:0005809|DOID:417	mondo.json	type II hypersensitivity disease|disorder of type II hypersensitivity	http://purl.obolibrary.org/obo/MONDO_0025512		
MONDO:0025511	biolink:Disease	inherited neuroendocrine tumor	An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome.	UMLS:CN202530|Orphanet:271847	mondo.json	hereditary neuroendocrine neoplasm|genetic neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0025511	Orphanet:271847|UMLS:CN202530	ordo_group_of_disorders|disease_grouping
MONDO:0001540	biolink:Disease	bagassosis	An occupational lung disorder caused by inhalation of bagasse dust. In the acute phase, it manifests as cough, dyspnea, fever, chills, and weakness. Chronic exposure may lead to interstitial lung fibrosis.	NCIT:C34409|DOID:12522|SCTID:67242002|ICD9:495.1|UMLS:C0004681|ICD10CM:J67.1|MESH:D011009	mondo.json	bagasse extrinsic allergic alveolitis|bagasse workers lung|extrinsic allergic alveolitis from bagasse|sugar cane worker pneumonitis	http://purl.obolibrary.org/obo/MONDO_0001540	DOID:12522|UMLS:C0004681|http://purl.bioontology.org/ontology/ICD10CM/J67.1|http://identifiers.org/snomedct/67242002|NCIT:C34409	
MONDO:0025514	biolink:Disease	livedoid vasculopathy	Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia.	Orphanet:542643|GARD:0012784|ICD10CM:L95.0|DOID:0040099|UMLS:C0343081|ICD9:709.1|SCTID:238762002|ICD9CM:709.1	mondo.json	livedo reticularis with summer ulcerations|livedo vasculitis|livedoid vasculopathy|idiopathic atrophic blanche|white atrophy|livedo reticularis with winter ulcerations|livedoid vasculitis|segmental hyalinizing vasculopathy	http://purl.obolibrary.org/obo/MONDO_0025514	Orphanet:542643|http://identifiers.org/snomedct/238762002|DOID:0040099|http://purl.bioontology.org/ontology/ICD10CM/L95.0|UMLS:C0343081	gard_rare
MONDO:0001547	biolink:Disease	atrophic nonflaccid tympanic membrane		ICD9:384.82|DOID:12546|SCTID:72052003|UMLS:C0155471	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001547	UMLS:C0155471|http://identifiers.org/snomedct/72052003|DOID:12546	
MONDO:0001546	biolink:Disease	hypermobility of coccyx		UMLS:C0158295|ICD9:724.71|DOID:12537|SCTID:202809009	mondo.json	hypermobility of the coccyx|coccygeal hypermobility syndrome	http://purl.obolibrary.org/obo/MONDO_0001546	DOID:12537|UMLS:C0158295|http://identifiers.org/snomedct/202809009	
MONDO:0025513	biolink:Disease	autoimmune urticaria	An autoimmune form of urticaria (disease).	SCTID:402397006|UMLS:C1304191|ICD9:708.8	mondo.json	autoimmune urticaria|autoimmune urticaria (disease)	http://purl.obolibrary.org/obo/MONDO_0025513	http://identifiers.org/snomedct/402397006|UMLS:C1304191	
MONDO:0001545	biolink:Disease	obsolete von willebrand disease			mondo.json	obsolete von willebrand's disease	http://purl.obolibrary.org/obo/MONDO_0001545		
UBERON:0036990	biolink:AnatomicalEntity	wall of pharyngotympanic tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036990		
MONDO:0001544	biolink:Disease	tibial nerve palsy		UMLS:C0154751|ICD9:355.8|SCTID:365258000|DOID:12529	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001544	DOID:12529|UMLS:C0154751|http://identifiers.org/snomedct/365258000	
MONDO:0013529	biolink:Disease	catecholaminergic polymorphic ventricular tachycardia 3	Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene.	DOID:0060677|ICD10CM:I47.2|OMIM:614021|UMLS:C3151463	mondo.json	ventricular tachycardia, catecholaminergic polymorphic, 3|catecholaminergic polymorphic ventricular tachycardia type 3|TECRL catecholaminergic polymorphic ventricular tachycardia|CVPT3|catecholaminergic polymorphic ventricular tachycardia caused by mutation in TECRL|catecholaminergic polymorphic ventricular tachycardia 3|CPVT3	http://purl.obolibrary.org/obo/MONDO_0013529	UMLS:C3151463|https://omim.org/entry/614021|DOID:0060677	
MONDO:0013527	biolink:Disease	lissencephaly 4	Any lissencephaly in which the cause of the disease is a mutation in the NDE1 gene.	OMIM:614019|UMLS:C3151461	mondo.json	lissencephaly type 4|lissencephaly 4, with microcephaly|lissencephaly 4 (with microcephaly)|lissencephaly (disease) caused by mutation in NDE1|lissencephaly 4|NDE1 lissencephaly (disease)|LIS4|lissencephaly 4 with microcephaly	http://purl.obolibrary.org/obo/MONDO_0013527	UMLS:C3151461|https://omim.org/entry/614019	
MONDO:0013528	biolink:Disease	intellectual disability, autosomal recessive 14	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TECR gene.	UMLS:C3151462|OMIM:614020	mondo.json	autosomal recessive non-syndromic intellectual disability caused by mutation in TECR|TECR autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive type 14|mental retardation, autosomal recessive 14|MRT14|intellectual disability, autosomal recessive 14|intellectual disability, autosomal recessive type 14	http://purl.obolibrary.org/obo/MONDO_0013528	UMLS:C3151462|https://omim.org/entry/614020	
MONDO:0013532	biolink:Disease	protein Z deficiency		OMIM:614024|UMLS:C3151465	mondo.json	protein Z deficiency|protein z deficiency	http://purl.obolibrary.org/obo/MONDO_0013532	https://omim.org/entry/614024|UMLS:C3151465	
MONDO:0013533	biolink:Disease	hyperlipidemia due to hepatic triglyceride lipase deficiency	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.	OMIM:614025|Orphanet:140905|UMLS:C3151466|SCTID:720940008|GARD:0012864	mondo.json	hyperlipidemia due to hepatic lipase deficiency|hyperlipidemia due to HTGL deficiency|hyperlipidemia due to HL deficiency|hepatic lipase deficiency|lipc deficiency|HL deficiency|hyperlipidemia due to hepatic triacylglycerol lipase deficiency	http://purl.obolibrary.org/obo/MONDO_0013533	https://omim.org/entry/614025|http://identifiers.org/snomedct/720940008|UMLS:C3151466|Orphanet:140905	ordo_disease
MONDO:0013530	biolink:Disease	atrial fibrillation, familial, 10	Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene.	OMIM:614022|UMLS:C3151464	mondo.json	SCN5A familial atrial fibrillation|familial atrial fibrillation caused by mutation in SCN5A|atrial fibrillation, familial, type 10|ATFB10|atrial fibrillation, familial, 10	http://purl.obolibrary.org/obo/MONDO_0013530	https://omim.org/entry/614022|UMLS:C3151464	
MONDO:0013531	biolink:Disease	PSPH deficiency	3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome.	UMLS:C1291463|ICD9:277.6|SCTID:124432005|DOID:0050724|Orphanet:79350|OMIM:614023	mondo.json	phosphoserine phosphatase deficiency|3-phosphoserine phosphatase deficiency|PSPHD|PSPH deficiency	http://purl.obolibrary.org/obo/MONDO_0013531	https://omim.org/entry/614023|http://identifiers.org/snomedct/124432005|Orphanet:79350|UMLS:C1291463|DOID:0050724	ordo_disease
MONDO:0013536	biolink:Disease	heme oxygenase 1 deficiency		MESH:C564200|UMLS:C1841651|OMIM:614034|Orphanet:562509	mondo.json	heme oxygenase 1 deficiency|heme oxygenase-1 deficiency|HMOX1D	http://purl.obolibrary.org/obo/MONDO_0013536	http://identifiers.org/mesh/C564200|https://omim.org/entry/614034|UMLS:C1841651|Orphanet:562509	ordo_disease
MONDO:0013537	biolink:Disease	autosomal recessive nonsyndromic hearing loss 29	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene.	UMLS:C3279660|OMIM:614035|DOID:0110487	mondo.json	DFNB29|autosomal recessive nonsyndromic deafness type 29|autosomal recessive nonsyndromic deafness caused by mutation in CLDN14|deafness, autosomal recessive type 29|CLDN14 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 29|autosomal recessive deafness 29|autosomal recessive nonsyndromic deafness 29	http://purl.obolibrary.org/obo/MONDO_0013537	UMLS:C3279660|DOID:0110487|https://omim.org/entry/614035	
MONDO:0013534	biolink:Disease	apolipoprotein c-III deficiency		MESH:C566270|UMLS:C3151467|DOID:0111370|OMIM:614028	mondo.json	apolipoprotein c-III deficiency|hyperalphalipoproteinemia 2	http://purl.obolibrary.org/obo/MONDO_0013534	https://omim.org/entry/614028|http://identifiers.org/mesh/C566270|UMLS:C3151467|DOID:0111370	
MONDO:0013535	biolink:Disease	hydroxyacyl glutathione hydrolase deficiency		OMIM:614033|UMLS:C3279657|MESH:C564215	mondo.json	glyoxalase II deficiency|glyoxalase 2 deficiency|hydroxyacyl glutathione hydrolase deficiency	http://purl.obolibrary.org/obo/MONDO_0013535	UMLS:C3279657|http://identifiers.org/mesh/C564215|https://omim.org/entry/614033	
UBERON:0022351	biolink:AnatomicalEntity	parietal serous membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0022351		
MONDO:0025506	biolink:Disease	porcine postweaning multisystemic wasting syndrome	A worldwide emerging disease of weaned piglets first recognized in swine herds in western Canada in 1997. This syndrome is characterized by progressive weight loss, rapid (tachypnea) and difficult (dyspnea) breathing, and yellowing of skin. PMWS is caused by porcine circovirus infection, specifically type 2 or PCV-2.	UMLS:C1721016|MESH:D053570	mondo.json	postweaning multisystemic wasting syndrome, porcine	http://purl.obolibrary.org/obo/MONDO_0025506	UMLS:C1721016|http://identifiers.org/mesh/D053570	
MONDO:0001539	biolink:Disease	retinal perforation	A usually small tearing of the retina occurring when the vitreous separates from the retina. It may lead to retinal detachment. Symptoms include flashes and floaters.	DOID:12514|UMLS:C0035321|SCTID:232003005|MESH:D012167	mondo.json	retinal dialysis|retinal tear|retinal break	http://purl.obolibrary.org/obo/MONDO_0001539	http://identifiers.org/mesh/D012167|DOID:12514|UMLS:C0035321|http://identifiers.org/snomedct/232003005	
UBERON:0022350	biolink:AnatomicalEntity	visceral serous membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0022350		
MONDO:0001538	biolink:Disease	retinal ischemia	A ischemic disease that involves the retina.	ICD9:362.84|ICD10CM:H35.82|UMLS:C0162291|DOID:12510|SCTID:26468004	mondo.json	ischemic disease of retina|retina ischemic disease	http://purl.obolibrary.org/obo/MONDO_0001538	UMLS:C0162291|DOID:12510|http://identifiers.org/snomedct/26468004|http://purl.bioontology.org/ontology/ICD10CM/H35.82	
CHEBI:15740	biolink:ChemicalSubstance	formate	A monocarboxylic acid anion that is the conjugate base of formic acid. Induces severe metabolic acidosis and ocular injury in human subjects.		mondo.json	hydrogen carboxylate|formate|aminate|formiate|methanoate|formylate|formic acid, ion(1-)|HCO2 anion	http://purl.obolibrary.org/obo/CHEBI_15740		
OBO:chebi#is_conjugate_base_of	biolink:NamedThing	is conjugate base of			mondo.json		http://purl.obolibrary.org/obo/chebi#is_conjugate_base_of		
MONDO:0001537	biolink:Disease	tuberculous epididymitis	An urogenital tuberculosis involving a pathogenic inflammatory response in the epididymis.	SCTID:83652003|ICD9:016.4|UMLS:C0152814|ICD9:016.46|DOID:1251|ICD9:016.42|ICD9:016.41|ICD9:016.40	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001537	http://identifiers.org/snomedct/83652003|DOID:1251|UMLS:C0152814	
UBERON:0022355	biolink:AnatomicalEntity	basal layer of endometrium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0022355		
CHEBI:76740	biolink:ChemicalSubstance	EC 1.13.* [oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases)] inhibitor	An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases), EC 1.13.*.*.		mondo.json	oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases) (EC 1.13.*) inhibitor|oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases) inhibitors|oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases) inhibitor|oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases) (EC 1.13.*) inhibitors|EC 1.13.* inhibitors|EC 1.13.* [oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases)] inhibitors|EC 1.13.* inhibitor	http://purl.obolibrary.org/obo/CHEBI_76740		
UBERON:0022357	biolink:AnatomicalEntity	mesentery of ileum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0022357		
CHEBI:76741	biolink:ChemicalSubstance	EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor	An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on hydrogen as donors (EC 1.14.*.*).		mondo.json	inhibitor of oxidoreductases acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*)|inhibitors of oxidoreductases acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*)|inhibitors of oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*)|oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen inhibitors|inhibitor of oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*)|EC 1.14.* inhibitors|oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*) inhibitors|oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*) inhibitor|EC 1.14.* inhibitor|oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen inhibitor|EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitors	http://purl.obolibrary.org/obo/CHEBI_76741		
UBERON:0022356	biolink:AnatomicalEntity	outer layer of endometrium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0022356		
MONDO:0001554	biolink:Disease	phacogenic glaucoma	Secondary glaucoma caused by either excessive size or spheric shape of the lens.	SCTID:392300000|UMLS:C0339590|DOID:12571|ICD9:365.59	mondo.json	lens induced angle closure glaucoma|phacomorphic glaucoma|lens swelling glaucoma	http://purl.obolibrary.org/obo/MONDO_0001554	DOID:12571|UMLS:C0339590|http://identifiers.org/snomedct/392300000	
MONDO:0001553	biolink:Disease	phacolytic glaucoma	An abnormal condition characterized by an acute autoimmune reaction of the eye. It is caused by hypersensitivity of the eye to the protein of the crystalline lens and commonly follows trauma to the crystalline lens or cataract surgery. Associated symptoms include swelling and inflammation of the eye, severe pain, and blurred vision. The substance of the lens is invaded by polymorphonuclear cells and mononuclear phagocytes. Accurate diagnosis must differentiate between this condition and infectious endophthalmitis. Therapy is supportive and commonly includes the administration of corticosteroids and atropine. Refractory cases may require surgical removal of the lens.	ICD9:365.51|DOID:12570|UMLS:C0152137|SCTID:32893002	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001553	DOID:12570|http://identifiers.org/snomedct/32893002|UMLS:C0152137	
UBERON:0022358	biolink:AnatomicalEntity	placenta blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0022358		
MONDO:0001552	biolink:Disease	dyscalculia	A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties.	DOID:12568|SCTID:47916000|HP:0002442|NCIT:C97165|MESH:D060705|ICD9:315.1	mondo.json	dyscalculia (disease)|disorder of arithmetical skills|mathematics disorder|dyscalculia	http://purl.obolibrary.org/obo/MONDO_0001552	NCIT:C97165|DOID:12568|http://identifiers.org/snomedct/47916000|http://identifiers.org/mesh/D060705	
MONDO:0001551	biolink:Disease	ulceration of vulva		DOID:12566|UMLS:C0156339|SCTID:68640004|ICD10CM:N76.6|ICD9:616.51|ICD9:616.50	mondo.json	ulceration of vulva|vulvar ulceration	http://purl.obolibrary.org/obo/MONDO_0001551	DOID:12566|http://identifiers.org/snomedct/68640004|http://purl.bioontology.org/ontology/ICD10CM/N76.6|UMLS:C0156339	
MONDO:0001558	biolink:Disease	Potter sequence	A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure.	SCTID:41962002|GARD:0004462|DOID:12594|NCIT:C40435|UMLS:C0178426|ICD10CM:Q60.6	mondo.json	Potter syndrome|oligohydramnios sequence|Potter's sequence|Potter's syndrome	http://purl.obolibrary.org/obo/MONDO_0001558	http://identifiers.org/snomedct/41962002|DOID:12594|UMLS:C0178426|http://purl.bioontology.org/ontology/ICD10CM/Q60.6|NCIT:C40435	gard_rare
UBERON:0010391	biolink:AnatomicalEntity	parametrium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010391		
MONDO:0001557	biolink:Disease	olecranon bursitis	A bursitis that involves the olecranon.	SCTID:425940002|ICD10CM:M70.2|DOID:12581|UMLS:C3887895|UMLS:C0263962|ICD9:726.33	mondo.json	shoe boil|bursitis of elbow region|olecranon bursitis|bursitis of elbow|capped elbow|miner's elbow|elbow bursitis (& olecranon)|bursitis of olecranon|elbow bursitis|Miners' elbow	http://purl.obolibrary.org/obo/MONDO_0001557	http://purl.bioontology.org/ontology/ICD10CM/M70.2|DOID:12581|UMLS:C0263962|http://identifiers.org/snomedct/425940002|UMLS:C3887895	
CHEBI:76759	biolink:ChemicalSubstance	EC 3.* (hydrolase) inhibitor	Any enzyme inhibitor that interferes with the action of a hydrolase (EC 3.*.*.*).		mondo.json	EC 3.* inhibitor|hydrolase (EC 3.*) inhibitor|EC 3.*.*.* inhibitors|hydrolase inhibitors|EC 3.* (hydrolase) inhibitors|hydrolase inhibitor|EC 3.*.*.* inhibitor|EC 3.* inhibitors|hydrolase (EC 3.*) inhibitors	http://purl.obolibrary.org/obo/CHEBI_76759		
MONDO:0001556	biolink:Disease	urethral obstruction	Blockage of the normal flow of urine in the urethra.	HP:0000796|ICD9:599.69|DOID:12577|UMLS:C0041972|MESH:D014524|SCTID:95588004	mondo.json	urethral obstruction|urethral obstruction (disease)|obstruction of urethra	http://purl.obolibrary.org/obo/MONDO_0001556	http://identifiers.org/snomedct/95588004|UMLS:C0041972|DOID:12577|http://identifiers.org/mesh/D014524	
MONDO:0025505	biolink:Disease	mink viral enteritis	A highly contagious parvovirus infection in mink, caused by mink enteritis virus or the closely related feline panleukopenia virus or canine parvovirus. Transmission usually occurs by the fecal/oral route.	MESH:D053489|UMLS:C1720999	mondo.json	enteritis, infectious, of mink|viral enteritis, mink|enteritis, mink viral|viral enteritides, mink|enteritides, mink viral|mink viral enteritides	http://purl.obolibrary.org/obo/MONDO_0025505	http://identifiers.org/mesh/D053489|UMLS:C1720999	
MONDO:0001555	biolink:Disease	neonatal thyrotoxicosis	A hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins.	ICD9:775.3|NCIT:C114906|UMLS:C0158983|DOID:12573|SCTID:13795004	mondo.json	infantile hyperthyroidism	http://purl.obolibrary.org/obo/MONDO_0001555	NCIT:C114906|http://identifiers.org/snomedct/13795004|DOID:12573|UMLS:C0158983	
UBERON:0010390	biolink:AnatomicalEntity	lumen of urethra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010390		
MONDO:0013518	biolink:Disease	pituitary hormone deficiency, combined, 6	Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene.	OMIM:613986|UMLS:C3151440	mondo.json	pituitary hormone deficiency, combined, type 6|pituitary hormone deficiency, combined, 6|combined pituitary hormone deficiencies, genetic form caused by mutation in OTX2|CPHD6|OTX2 combined pituitary hormone deficiencies, genetic form	http://purl.obolibrary.org/obo/MONDO_0013518	UMLS:C3151440|https://omim.org/entry/613986	
MONDO:0013519	biolink:Disease	dyskeratosis congenita, autosomal recessive 2	A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3.	DOID:0070017|UMLS:C3151441|OMIM:613987	mondo.json	dyskeratosis congenita, autosomal recessive type 2|dyskeratosis congenita, autosomal recessive 2|DKCB2|autosomal recessive dyskeratosis congenita 2	http://purl.obolibrary.org/obo/MONDO_0013519	UMLS:C3151441|DOID:0070017|https://omim.org/entry/613987	
HP:0010576	biolink:PhenotypicFeature	Intracranial cystic lesion	A cystic lesion originating within the brain.	UMLS:C4021250	mondo.json	Cerebral cystic malformation	http://purl.obolibrary.org/obo/HP_0010576		
MONDO:0013516	biolink:Disease	retinitis pigmentosa 60	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene.	OMIM:613983|DOID:0110411|ICD10CM:H35.5|UMLS:C3151434	mondo.json	retinitis pigmentosa 60|retinitis pigmentosa caused by mutation in PRPF6|RP60|retinitis pigmentosa type 60|PRPF6 retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0013516	UMLS:C3151434|DOID:0110411|https://omim.org/entry/613983	
UBERON:0010393	biolink:AnatomicalEntity	T cell domain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010393		
MONDO:0013517	biolink:Disease	beta-thalassemia HBB/LCRB	Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype.	OMIM:613985|SCDO:0000251	mondo.json	thalassemia, hispanic gamma-delta-beta|beta-thalassemia|thalassemia, beta	http://purl.obolibrary.org/obo/MONDO_0013517	https://omim.org/entry/613985	
UBERON:0010394	biolink:AnatomicalEntity	lymphocyte domain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010394		
MONDO:0001550	biolink:Disease	obsolete Duane retraction syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001550		
UBERON:0010399	biolink:AnatomicalEntity	spleen trabecular artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010399		
NCIT:C7057	biolink:NamedThing	Disease, Disorder or Finding			mondo.json		http://purl.obolibrary.org/obo/NCIT_C7057		
MONDO:0013521	biolink:Disease	dyskeratosis congenita, autosomal dominant 2	A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33.	UMLS:C3151443|Orphanet:3322|OMIM:613989|DOID:0070016	mondo.json	dyskeratosis congenita, autosomal dominant 2|dyskeratosis congenita, autosomal dominant type 2|DKCA2|autosomal dominant dyskeratosis congenita 2|dyskeratosis congenita, autosomal recessive 4	http://purl.obolibrary.org/obo/MONDO_0013521	DOID:0070016|https://omim.org/entry/613989|UMLS:C3151443	
MONDO:0013522	biolink:Disease	dyskeratosis congenita, autosomal dominant 3	A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12.	UMLS:C3151445|Orphanet:3322|OMIM:613990|DOID:0070018	mondo.json	dyskeratosis congenita, autosomal dominant 3|dyskeratosis congenita, autosomal dominant type 3|autosomal dominant dyskeratosis congenita 3|DKCA3	http://purl.obolibrary.org/obo/MONDO_0013522	DOID:0070018|https://omim.org/entry/613990|UMLS:C3151445	
CHEBI:15734	biolink:ChemicalSubstance	primary alcohol	A primary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it.		mondo.json	Primary alcohol|primary alcohols|1-Alcohol|a primary alcohol	http://purl.obolibrary.org/obo/CHEBI_15734		
MONDO:0013520	biolink:Disease	dyskeratosis congenita, autosomal recessive 3	A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1.	UMLS:C3151442|OMIM:613988|DOID:0070019	mondo.json	DKCB3|autosomal recessive dyskeratosis congenita 3|dyskeratosis congenita, autosomal recessive type 3|dyskeratosis congenita, autosomal recessive 3	http://purl.obolibrary.org/obo/MONDO_0013520	DOID:0070019|https://omim.org/entry/613988|UMLS:C3151442	
MONDO:0013525	biolink:Disease	primary ciliary dyskinesia 16	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene.	UMLS:C3151460|DOID:0110613|OMIM:614017	mondo.json	primary ciliary dyskinesia type 16|ciliary dyskinesia, primary, type 16|primary ciliary dyskinesia 16 with or without situs inversus|CILD16|ciliary dyskinesia, primary, 16|primary ciliary dyskinesia caused by mutation in DNAL1|ciliary dyskinesia, primary, 16, with or without situs inversus|DNAL1 primary ciliary dyskinesia	http://purl.obolibrary.org/obo/MONDO_0013525	UMLS:C3151460|DOID:0110613|https://omim.org/entry/614017	
MONDO:0013526	biolink:Disease	progressive myoclonic epilepsy type 6	Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene.	OMIM:614018|Orphanet:280620|DOID:0111449|GARD:0003872|UMLS:C3279627	mondo.json	epilepsy, progressive myoclonic 6|GOSR2 progressive myoclonic epilepsy|epilepsy, progressive myoclonic, type 6|PME type 6|North Sea progressive myoclonus epilepsy|EPM6|GOSR2-related progressive myoclonus ataxia|progressive myoclonus epilepsy type 6|epilepsy, progressive myoclonic, 6|progressive myoclonic epilepsy caused by mutation in GOSR2	http://purl.obolibrary.org/obo/MONDO_0013526	UMLS:C3279627|DOID:0111449|https://omim.org/entry/614018|Orphanet:280620	ordo_disease
MONDO:0013523	biolink:Disease	Nestor-Guillermo progeria syndrome		Orphanet:280576|UMLS:C3151446|GARD:0011008|OMIM:614008	mondo.json	PSCOO|Nestor-Guillermo progeria syndrome|progeria syndrome, childhood-onset, with osteolysis|NGPS	http://purl.obolibrary.org/obo/MONDO_0013523	https://omim.org/entry/614008|Orphanet:280576|UMLS:C3151446	gard_rare|ordo_malformation_syndrome
UBERON:0022360	biolink:AnatomicalEntity	male mammary gland duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0022360		
MONDO:0013524	biolink:Disease	bleeding diathesis due to thromboxane synthesis deficiency		Orphanet:220443|OMIM:614009	mondo.json	bleeding disorder, platelet-type, 13, susceptibility to|susceptibility to platelet-type bleeding disorder 13|bleeding disorder, susceptibility to, due to defective platelet thromboxane A2 receptor|BDPLT13	http://purl.obolibrary.org/obo/MONDO_0013524	https://omim.org/entry/614009|Orphanet:220443	ordo_disease|predisposition
UBERON:0022361	biolink:AnatomicalEntity	lung field			mondo.json		http://purl.obolibrary.org/obo/UBERON_0022361		
MONDO:0001549	biolink:Disease	hemolytic-uremic syndrome	Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia.	Orphanet:544458|ICD10CM:D59.3|UMLS:C0019061|MESH:D006463|SCTID:111407006|DOID:12554|Orphanet:576742|NCIT:C75545|ICD9:283.11|GARD:0006588|OMIMPS:235400	mondo.json	acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells')|HUS|haemolytic-uraemic syndrome|hemolytic uremic syndrome	http://purl.obolibrary.org/obo/MONDO_0001549	http://purl.bioontology.org/ontology/ICD10CM/D59.3|UMLS:C0019061|NCIT:C75545|http://identifiers.org/snomedct/111407006|http://identifiers.org/mesh/D006463|https://omim.org/phenotypicSeries/PS235400|DOID:12554|Orphanet:544458	ordo_group_of_disorders|disease_grouping
MONDO:0001548	biolink:Disease	hepatic coma	A syndrome characterized by central nervous system dysfunction in association with liver failure, including portal-systemic shunts. Clinical features include lethargy and confusion (frequently progressing to coma); asterixis; nystagmus, pathologic; brisk oculovestibular reflexes; decorticate and decerebrate posturing; muscle spasticity; and bilateral extensor plantar reflexes (see reflex, babinski). electroencephalography may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)	UMLS:C0019147|DOID:12550|ICD9:070.42|SCTID:72836002	mondo.json	hepatocerebral intoxication	http://purl.obolibrary.org/obo/MONDO_0001548	UMLS:C0019147|DOID:12550|http://identifiers.org/snomedct/72836002	
HGNC:5099	biolink:NamedThing	HOXA1			mondo.json		http://identifiers.org/hgnc/5099		
UBERON:0000978	biolink:AnatomicalEntity	leg			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000978		
UBERON:0000979	biolink:AnatomicalEntity	tibia			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000979		
UBERON:0000974	biolink:AnatomicalEntity	neck			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000974		
UBERON:0000975	biolink:AnatomicalEntity	sternum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000975		
UBERON:0000976	biolink:AnatomicalEntity	humerus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000976		
UBERON:0000977	biolink:AnatomicalEntity	pleura			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000977		
HGNC:473	biolink:NamedThing	AMT			mondo.json		http://identifiers.org/hgnc/473		
HGNC:470	biolink:NamedThing	AMPD3			mondo.json		http://identifiers.org/hgnc/470		
HGNC:7602	biolink:NamedThing	MYO5A			mondo.json		http://identifiers.org/hgnc/7602		
UBERON:0036925	biolink:AnatomicalEntity	wall of eyeball			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036925		
NCBITaxon:2169971	biolink:OrganismalEntity	Visna-maedi virus		GC_ID:1	mondo.json	Maedi visna virus|Maedi visna virus MVV|Visna lentivirus|Visna virus|Maedi-Visna virus|Visna/maedi virus|Maedi/Visna virus	http://purl.obolibrary.org/obo/NCBITaxon_2169971		
HGNC:7601	biolink:NamedThing	MYO3A			mondo.json		http://identifiers.org/hgnc/7601		
HGNC:7603	biolink:NamedThing	MYO5B			mondo.json		http://identifiers.org/hgnc/7603		
HGNC:7606	biolink:NamedThing	MYO7A			mondo.json		http://identifiers.org/hgnc/7606		
HGNC:7605	biolink:NamedThing	MYO6			mondo.json		http://identifiers.org/hgnc/7605		
UBERON:0000981	biolink:AnatomicalEntity	femur			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000981		
UBERON:0000982	biolink:AnatomicalEntity	skeletal joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000982		
UBERON:0000983	biolink:AnatomicalEntity	metatarsus region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000983		
UBERON:0000964	biolink:AnatomicalEntity	cornea			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000964		
UBERON:0000965	biolink:AnatomicalEntity	lens of camera-type eye			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000965		
UBERON:0000966	biolink:AnatomicalEntity	retina			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000966		
HGNC:483	biolink:NamedThing	ANG			mondo.json		http://identifiers.org/hgnc/483		
HGNC:7609	biolink:NamedThing	MYO9B			mondo.json		http://identifiers.org/hgnc/7609		
HGNC:7610	biolink:NamedThing	MYOC			mondo.json		http://identifiers.org/hgnc/7610		
UBERON:0000970	biolink:AnatomicalEntity	eye			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000970		
NCBITaxon:325675	biolink:OrganismalEntity	unclassified Arteriviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_325675		
UBERON:0000956	biolink:AnatomicalEntity	cerebral cortex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000956		
UBERON:0000957	biolink:AnatomicalEntity	lamina			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000957		
UBERON:0022303	biolink:AnatomicalEntity	nervous system cell part layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0022303		
UBERON:0000958	biolink:AnatomicalEntity	medulla of organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000958		
UBERON:0000959	biolink:AnatomicalEntity	optic chiasma			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000959		
UBERON:0000955	biolink:AnatomicalEntity	brain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000955		
HGNC:452	biolink:NamedThing	AMBN			mondo.json		http://identifiers.org/hgnc/452		
HGNC:451	biolink:NamedThing	AMACR			mondo.json		http://identifiers.org/hgnc/451		
HGNC:450	biolink:NamedThing	ALX4			mondo.json		http://identifiers.org/hgnc/450		
NCBITaxon:2169992	biolink:OrganismalEntity	Brazilian mammarenavirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2169992		
NCBITaxon:2169991	biolink:OrganismalEntity	Argentinian mammarenavirus		GC_ID:1	mondo.json	Junin mammarenavirus|Junn mammarenavirus|Junin arenavirus|Junin virus	http://purl.obolibrary.org/obo/NCBITaxon_2169991		
CHEBI:25154	biolink:ChemicalSubstance	manganese molecular entity			mondo.json	manganese molecular entity|manganese compounds|manganese molecular entities	http://purl.obolibrary.org/obo/CHEBI_25154		
NCBITaxon:2890311	biolink:OrganismalEntity	Klebsiella/Raoultella group		PMID:34186167|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2890311		
HGNC:7623	biolink:NamedThing	MYT1L			mondo.json		http://identifiers.org/hgnc/7623		
UBERON:0000962	biolink:AnatomicalEntity	nerve of cervical vertebra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000962		
CHEBI:37134	biolink:ChemicalSubstance	elemental barium			mondo.json		http://purl.obolibrary.org/obo/CHEBI_37134		
CHEBI:37133	biolink:ChemicalSubstance	barium molecular entity			mondo.json	barium molecular entity|barium compounds|barium molecular entities	http://purl.obolibrary.org/obo/CHEBI_37133		
UBERON:0000945	biolink:AnatomicalEntity	stomach			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000945		
UBERON:0000946	biolink:AnatomicalEntity	cardial valve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000946		
HGNC:469	biolink:NamedThing	AMPD2			mondo.json		http://identifiers.org/hgnc/469		
UBERON:0000947	biolink:AnatomicalEntity	aorta			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000947		
UBERON:0000948	biolink:AnatomicalEntity	heart			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000948		
HGNC:468	biolink:NamedThing	AMPD1			mondo.json		http://identifiers.org/hgnc/468		
HGNC:467	biolink:NamedThing	AMMECR1			mondo.json		http://identifiers.org/hgnc/467		
UBERON:0000941	biolink:AnatomicalEntity	cranial nerve II			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000941		
HGNC:465	biolink:NamedThing	AMHR2			mondo.json		http://identifiers.org/hgnc/465		
HGNC:464	biolink:NamedThing	AMH			mondo.json		http://identifiers.org/hgnc/464		
HGNC:461	biolink:NamedThing	AMELX			mondo.json		http://identifiers.org/hgnc/461		
UBERON:0000949	biolink:AnatomicalEntity	endocrine system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000949		
HGNC:7632	biolink:NamedThing	NAGLU			mondo.json		http://identifiers.org/hgnc/7632		
UBERON:0000951	biolink:AnatomicalEntity	rotator muscle of the vertebral column			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000951		
HGNC:7631	biolink:NamedThing	NAGA			mondo.json		http://identifiers.org/hgnc/7631		
HGNC:438	biolink:NamedThing	ALPL			mondo.json		http://identifiers.org/hgnc/438		
CHEBI:49104	biolink:ChemicalSubstance	heteroarenecarbaldehyde	An aldehyde in which a formyl group is located on a heteroarene.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_49104		
HGNC:436	biolink:NamedThing	ALOX5AP			mondo.json		http://identifiers.org/hgnc/436		
HGNC:435	biolink:NamedThing	ALOX5			mondo.json		http://identifiers.org/hgnc/435		
HP:0010522	biolink:PhenotypicFeature	Dyslexia	A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent).	MSH:D004410|UMLS:C0476254|SNOMEDCT_US:9236007|SNOMEDCT_US:52824009|SNOMEDCT_US:59770006	mondo.json	Reading disability	http://purl.obolibrary.org/obo/HP_0010522		
HGNC:430	biolink:NamedThing	ALOX12B			mondo.json		http://identifiers.org/hgnc/430		
UBERON:0010341	biolink:AnatomicalEntity	1st arch mesenchyme from head mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010341		
NCBITaxon:337687	biolink:OrganismalEntity	Muroidea		PMID:15371245|PMID:15019624|GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_337687		
UBERON:0010344	biolink:AnatomicalEntity	3rd arch mesenchyme from head mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010344		
UBERON:0010345	biolink:AnatomicalEntity	4th arch mesenchyme from head mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010345		
UBERON:0010343	biolink:AnatomicalEntity	2nd arch mesenchyme from head mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010343		
UBERON:0010337	biolink:AnatomicalEntity	mandibular process mesenchyme from head mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010337		
UBERON:0010338	biolink:AnatomicalEntity	1st arch maxillary mesenchyme from head mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010338		
HGNC:7643	biolink:NamedThing	NARS1			mondo.json		http://identifiers.org/hgnc/7643		
HP:0010528	biolink:PhenotypicFeature	Prosopagnosia	Inability to recognize faces of familiar persons.	UMLS:C0234512|SNOMEDCT_US:18358003|MSH:D020238	mondo.json	Face blindness|Facial agnosia	http://purl.obolibrary.org/obo/HP_0010528		
HGNC:7646	biolink:NamedThing	NAT2			mondo.json		http://identifiers.org/hgnc/7646		
UBERON:0010335	biolink:AnatomicalEntity	maxillary process mesenchyme from head mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010335		
UBERON:0010336	biolink:AnatomicalEntity	mandibular process mesenchyme from neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010336		
HP:0010527	biolink:PhenotypicFeature	Astereognosia	Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit.	MSH:D000377|UMLS:C0234505|SNOMEDCT_US:25094008	mondo.json	Astereognosis|Somatosensory agnosia	http://purl.obolibrary.org/obo/HP_0010527		
HP:0010525	biolink:PhenotypicFeature	Finger agnosia	An inability or difficulty differentiating among the fingers of either hand as well as the hands of others.	MSH:D000377|SNOMEDCT_US:3449007|UMLS:C0234509	mondo.json		http://purl.obolibrary.org/obo/HP_0010525		
NCBITaxon:337677	biolink:OrganismalEntity	Cricetidae		PMID:15371245|GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_337677		
HP:0010524	biolink:PhenotypicFeature	Agnosia	Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions.	MSH:D000377|SNOMEDCT_US:42341009|UMLS:C0001816	mondo.json		http://purl.obolibrary.org/obo/HP_0010524		
UBERON:0010339	biolink:AnatomicalEntity	1st arch mandibular mesenchyme from head mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010339		
HGNC:428	biolink:NamedThing	ALMS1			mondo.json		http://identifiers.org/hgnc/428		
HGNC:449	biolink:NamedThing	ALX3			mondo.json		http://identifiers.org/hgnc/449		
HGNC:445	biolink:NamedThing	SETX			mondo.json		http://identifiers.org/hgnc/445		
HGNC:443	biolink:NamedThing	ALS2			mondo.json		http://identifiers.org/hgnc/443		
UBERON:0010330	biolink:AnatomicalEntity	eyelid mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010330		
UBERON:0010333	biolink:AnatomicalEntity	extraembryonic membrane mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010333		
UBERON:0010334	biolink:AnatomicalEntity	maxillary process mesenchyme from neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010334		
UBERON:0010332	biolink:AnatomicalEntity	epithelium of handplate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010332		
HP:0010514	biolink:PhenotypicFeature	Hyperpituitarism	Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma.	MSH:D006964|SNOMEDCT_US:10649000|UMLS:C0020506	mondo.json		http://purl.obolibrary.org/obo/HP_0010514		
UBERON:0010328	biolink:AnatomicalEntity	limb bud mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010328		
UBERON:0010329	biolink:AnatomicalEntity	paired limb/fin bud mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010329		
HGNC:7652	biolink:NamedThing	NBN			mondo.json		http://identifiers.org/hgnc/7652		
HGNC:414	biolink:NamedThing	ALDOA			mondo.json		http://identifiers.org/hgnc/414		
UBERON:0000996	biolink:AnatomicalEntity	vagina			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000996		
UBERON:0000997	biolink:AnatomicalEntity	mammalian vulva			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000997		
UBERON:0000998	biolink:AnatomicalEntity	seminal vesicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000998		
UBERON:0000999	biolink:AnatomicalEntity	ejaculatory duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000999		
UBERON:0010323	biolink:AnatomicalEntity	cranial skeletal system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010323		
UBERON:0010321	biolink:AnatomicalEntity	skeletal element of eye region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010321		
UBERON:0010316	biolink:AnatomicalEntity	germ layer / neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010316		
HGNC:5004	biolink:NamedThing	HMGB3			mondo.json		http://identifiers.org/hgnc/5004		
UBERON:0010313	biolink:AnatomicalEntity	neural crest-derived structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010313		
HGNC:5005	biolink:NamedThing	HMGCL			mondo.json		http://identifiers.org/hgnc/5005		
UBERON:0010314	biolink:AnatomicalEntity	structure with developmental contribution from neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010314		
HGNC:5008	biolink:NamedThing	HMGCS2			mondo.json		http://identifiers.org/hgnc/5008		
HGNC:5009	biolink:NamedThing	HMGA2			mondo.json		http://identifiers.org/hgnc/5009		
HGNC:7660	biolink:NamedThing	NCF1			mondo.json		http://identifiers.org/hgnc/7660		
HGNC:7662	biolink:NamedThing	NCF4			mondo.json		http://identifiers.org/hgnc/7662		
HGNC:409	biolink:NamedThing	ALDH1A3			mondo.json		http://identifiers.org/hgnc/409		
HGNC:7661	biolink:NamedThing	NCF2			mondo.json		http://identifiers.org/hgnc/7661		
HGNC:408	biolink:NamedThing	ALDH5A1			mondo.json		http://identifiers.org/hgnc/408		
HGNC:406	biolink:NamedThing	ALDH4A1			mondo.json		http://identifiers.org/hgnc/406		
OBO:mondo#excluded_subClassOf	biolink:NamedThing	excluded subClassOf			mondo.json		http://purl.obolibrary.org/obo/mondo#excluded_subClassOf		
HGNC:427	biolink:NamedThing	ALK			mondo.json		http://identifiers.org/hgnc/427		
UBERON:0000989	biolink:AnatomicalEntity	penis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000989		
UBERON:0000985	biolink:AnatomicalEntity	axillary vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000985		
UBERON:0000988	biolink:AnatomicalEntity	pons			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000988		
UBERON:0010312	biolink:AnatomicalEntity	immature eye			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010312		
UBERON:0010304	biolink:AnatomicalEntity	non-keratinized stratified squamous epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010304		
HGNC:7677	biolink:NamedThing	NSMCE3			mondo.json		http://identifiers.org/hgnc/7677		
UBERON:0010305	biolink:AnatomicalEntity	subdivision of conjunctiva			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010305		
HGNC:7679	biolink:NamedThing	NDRG1			mondo.json		http://identifiers.org/hgnc/7679		
UBERON:0010303	biolink:AnatomicalEntity	extraembryonic epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010303		
HGNC:5017	biolink:NamedThing	HMX1			mondo.json		http://identifiers.org/hgnc/5017		
HGNC:7678	biolink:NamedThing	NDP			mondo.json		http://identifiers.org/hgnc/7678		
UBERON:0010309	biolink:AnatomicalEntity	palpebral bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010309		
UBERON:0000992	biolink:AnatomicalEntity	ovary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000992		
UBERON:0000993	biolink:AnatomicalEntity	oviduct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000993		
HGNC:7671	biolink:NamedThing	NCOA4			mondo.json		http://identifiers.org/hgnc/7671		
UBERON:0000995	biolink:AnatomicalEntity	uterus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000995		
HGNC:5010	biolink:NamedThing	HMGA1			mondo.json		http://identifiers.org/hgnc/5010		
UBERON:0000990	biolink:AnatomicalEntity	reproductive system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000990		
HGNC:5012	biolink:NamedThing	HMMR			mondo.json		http://identifiers.org/hgnc/5012		
HGNC:7675	biolink:NamedThing	NDN			mondo.json		http://identifiers.org/hgnc/7675		
HGNC:417	biolink:NamedThing	ALDOB			mondo.json		http://identifiers.org/hgnc/417		
UBERON:0000991	biolink:AnatomicalEntity	gonad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000991		
HGNC:5013	biolink:NamedThing	HMOX1			mondo.json		http://identifiers.org/hgnc/5013		
ENVO:01000435	biolink:NamedThing	montane forest			mondo.json		http://purl.obolibrary.org/obo/ENVO_01000435		
GO:0050309	biolink:NamedThing	sugar-terminal-phosphatase activity	Catalysis of the reaction: H2O + sugar phosphorylated on the terminal carbon = a sugar + phosphate.		mondo.json	sugar-omega-phosphate phosphohydrolase activity|xylitol-5-phosphatase activity	http://purl.obolibrary.org/obo/GO_0050309		
CL:0000006	biolink:Cell	neuronal receptor cell			mondo.json	neuronal receptor cell (sensu Animalia)	http://purl.obolibrary.org/obo/CL_0000006		
CL:0000007	biolink:Cell	early embryonic cell (metazoa)	A cell found in the embryo before the formation of all the gem layers is complete.		mondo.json		http://purl.obolibrary.org/obo/CL_0000007		
CL:0000008	biolink:Cell	migratory cranial neural crest cell	Cell that is part of the migratory cranial neural crest population. Migratory cranial neural crest cells develop from premigratory cranial neural crest cells and have undergone epithelial to mesenchymal transition and delamination.		mondo.json		http://purl.obolibrary.org/obo/CL_0000008		
GO:0050308	biolink:NamedThing	sugar-phosphatase activity	Catalysis of the reaction: sugar phosphate + H2O = sugar + phosphate.		mondo.json	sugar-phosphate phosphatase activity|sugar-phosphate phosphohydrolase activity	http://purl.obolibrary.org/obo/GO_0050308		
CL:0000000	biolink:Cell	cell	A material entity of anatomical origin (part of or deriving from an organism) that has as its parts a maximally connected cell compartment surrounded by a plasma membrane.	KUPO:0000002|GO:0005623|CALOHA:TS-2035|XAO:0003012|FMA:68646|WBbt:0004017|VHOG:0001533	mondo.json		http://purl.obolibrary.org/obo/CL_0000000		_upper_level
CL:0002663	biolink:Cell	myocardial endocrine cell of atrium	A myocardial endocrine cell that is part of the atrium.	FMA:83389	mondo.json		http://purl.obolibrary.org/obo/CL_0002663		
CL:0000003	biolink:Cell	native cell	A cell that is found in a natural setting, which includes multicellular organism cells 'in vivo' (i.e. part of an organism), and unicellular organisms 'in environment' (i.e. part of a natural environment).	CARO:0000013	mondo.json	cell in vivo	http://purl.obolibrary.org/obo/CL_0000003		_upper_level
CL:0000005	biolink:Cell	fibroblast neural crest derived	Any fibroblast that is deriived from the neural crest.		mondo.json		http://purl.obolibrary.org/obo/CL_0000005		
ENVO:01000420	biolink:NamedThing	building part	A building part is a construction which is part of a building.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000420		
CL:0000017	biolink:Cell	spermatocyte	A male germ cell that develops from spermatogonia. The euploid primary spermatocytes undergo meiosis and give rise to the haploid secondary spermatocytes which in turn give rise to spermatids.	FBbt:00004936|WBbt:0006799|CALOHA:TS-0951|BTO:0001275|EMAPA:31484|FMA:84049	mondo.json		http://purl.obolibrary.org/obo/CL_0000017		
CL:0000018	biolink:Cell	spermatid	A male germ cell that develops from the haploid secondary spermatocytes. Without further division, spermatids undergo structural changes and give rise to spermatozoa.	WBbt:0006800|EMAPA:31486|CALOHA:TS-0950|FMA:72294|BTO:0001274|FBbt:00004942	mondo.json	nematoblast	http://purl.obolibrary.org/obo/CL_0000018		
CL:0002679	biolink:Cell	natural helper lymphocyte	A lymphocyte found in adipose tissue that lacks lineage markers of other lymphocytes but is capable of mediating TH2 cytokine responses. This cell type is found in fat associated lymphoid clusters, proliferates in response to IL2 and produce large amounts of TH2 cytokines such as IL5, IL6 and IL13		mondo.json		http://purl.obolibrary.org/obo/CL_0002679		
CL:0000019	biolink:Cell	sperm	A mature male germ cell that develops from a spermatid.	BTO:0001277|WBbt:0006798|BTO:0002046|FBbt:00004954|CALOHA:TS-0949|FMA:67338	mondo.json	sperm cell|spermatozoon|spermatozoid	http://purl.obolibrary.org/obo/CL_0000019		
CL:0002672	biolink:Cell	retinal progenitor cell	A multi-fate stem cell that can give rise to different retinal cell types including rod and cone cells.		mondo.json		http://purl.obolibrary.org/obo/CL_0002672		
CL:0000011	biolink:Cell	migratory trunk neural crest cell	Cell that is part of the migratory trunk neural crest population. Migratory trunk neural crest cells develop from premigratory trunk neural crest cells and have undergone epithelial to mesenchymal transition and delamination.		mondo.json		http://purl.obolibrary.org/obo/CL_0000011		
CL:0002673	biolink:Cell	tongue muscle cell	A skeletal muscle cell that is part of the tongue.		mondo.json		http://purl.obolibrary.org/obo/CL_0002673		
CL:0002676	biolink:Cell	neural crest derived neuroblast	A neuroblast derived from a neural crest cell.		mondo.json		http://purl.obolibrary.org/obo/CL_0002676		
CL:0000014	biolink:Cell	germ line stem cell			mondo.json	germline stem cell	http://purl.obolibrary.org/obo/CL_0000014		
CL:0000015	biolink:Cell	male germ cell	Male germ cell is a germ cell that supports male gamete production.	ncithesaurus:Spermatogenic_Cell|VHOG:0001531|FMA:72290|MA:0002765	mondo.json		http://purl.obolibrary.org/obo/CL_0000015		
NCBITaxon:181088	biolink:OrganismalEntity	Haemaphysalis flava		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_181088		
HGNC:26594	biolink:NamedThing	DOK7			mondo.json		http://identifiers.org/hgnc/26594		
CHR:9606-chr15q11-q13	biolink:NamedThing	15q11-q13 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr15q11-q13		
ENVO:04000010	biolink:NamedThing	soil surface layer	A surface layer which is composed primarily of soil.		mondo.json		http://purl.obolibrary.org/obo/ENVO_04000010		
ENVO:01000452	biolink:NamedThing	environmental disposition	A disposition which is realised by an environmental system or system parts thereof.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000452		
UBERON:4000115	biolink:AnatomicalEntity	mineralized bone tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_4000115		
CL:0002658	biolink:Cell	glandular cell of the large intestine	A glandular epithelial cell of the large intestine.	FMA:87194	mondo.json		http://purl.obolibrary.org/obo/CL_0002658		
CL:0002657	biolink:Cell	glandular cell of esophagus	A glandular epithelial cell of the esophagus.	FMA:86548	mondo.json		http://purl.obolibrary.org/obo/CL_0002657		
CL:0002659	biolink:Cell	glandular cell of stomach	A glandular epithelial cell that is part of the stomach.	FMA:86554|CALOHA:TS-1284	mondo.json		http://purl.obolibrary.org/obo/CL_0002659		
ENVO:04000006	biolink:NamedThing	concentration of carbon dioxide in seawater	The concentration of carbon dioxide when measured in seawater.		mondo.json		http://purl.obolibrary.org/obo/ENVO_04000006		
ENVO:04000004	biolink:NamedThing	concentration of carbon dioxide in air	The concentration of carbon dioxide when measured in air.		mondo.json		http://purl.obolibrary.org/obo/ENVO_04000004		
ENVO:04000003	biolink:NamedThing	concentration of carbon dioxide in soil	The concentration of carbon dioxide when measured in soil.		mondo.json		http://purl.obolibrary.org/obo/ENVO_04000003		
CL:0002656	biolink:Cell	glandular cell of endometrium	A glandular epithelial cell of the endometrium.	FMA:86489	mondo.json		http://purl.obolibrary.org/obo/CL_0002656		
CHEBI:8386	biolink:ChemicalSubstance	pregnane			mondo.json	pregnane	http://purl.obolibrary.org/obo/CHEBI_8386		
GO:0003995	biolink:NamedThing	acyl-CoA dehydrogenase activity	Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor.		mondo.json	acyl-CoA reductase activity|acyl dehydrogenase activity|fatty acyl coenzyme A dehydrogenase activity|long-chain acyl coenzyme A dehydrogenase activity|acyl coenzyme A dehydrogenase activity|acyl CoA dehydrogenase activity|medium-chain acyl-CoA dehydrogenase activity|fatty-acyl-CoA dehydrogenase activity|acyl-CoA:acceptor 2,3-oxidoreductase activity|long-chain acyl-CoA dehydrogenase activity|medium-chain acyl-coenzyme A dehydrogenase activity|general acyl CoA dehydrogenase activity|acyl-CoA:(acceptor) 2,3-oxidoreductase activity	http://purl.obolibrary.org/obo/GO_0003995		
CL:0002625	biolink:Cell	seminiferous tubule epithelial cell	A cell of the seminiferous tubule epithelium.		mondo.json		http://purl.obolibrary.org/obo/CL_0002625		
NCBITaxon:2611341	biolink:OrganismalEntity	Metamonada		GC_ID:1|PMID:30257078	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2611341		
HGNC:26576	biolink:NamedThing	KY			mondo.json		http://identifiers.org/hgnc/26576		
HGNC:26575	biolink:NamedThing	PRIMPOL			mondo.json		http://identifiers.org/hgnc/26575		
CL:0002621	biolink:Cell	gingival epithelial cell			mondo.json		http://purl.obolibrary.org/obo/CL_0002621		
CL:0002620	biolink:Cell	skin fibroblast	A fibroblast of skin.	CALOHA:TS-0935|BTO:0001255	mondo.json		http://purl.obolibrary.org/obo/CL_0002620		
CL:0002623	biolink:Cell	acinar cell of salivary gland	An acinar cell of salivary gland.		mondo.json		http://purl.obolibrary.org/obo/CL_0002623		
CL:0002622	biolink:Cell	prostate stromal cell	A stromal cell of the prostate.	BTO:0003972	mondo.json		http://purl.obolibrary.org/obo/CL_0002622		
CL:1000090	biolink:Cell	pronephric nephron tubule epithelial cell			mondo.json		http://purl.obolibrary.org/obo/CL_1000090		
CHEBI:50047	biolink:ChemicalSubstance	organic amino compound	A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups.		mondo.json	organic amino compounds	http://purl.obolibrary.org/obo/CHEBI_50047		
NCBITaxon:2611352	biolink:OrganismalEntity	Discoba		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2611352		
HGNC:26582	biolink:NamedThing	UNC80			mondo.json		http://identifiers.org/hgnc/26582		
CL:0002637	biolink:Cell	keratinized epithelial cell of the anal canal	An epithelial cell of the anal canal that is keratinized. This cell type is found towards the lower, rectal end of the anal canal.		mondo.json		http://purl.obolibrary.org/obo/CL_0002637		
GO:0015986	biolink:NamedThing	proton motive force-driven ATP synthesis	The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis.		mondo.json	chemiosmosis|ATP synthesis coupled proton transport	http://purl.obolibrary.org/obo/GO_0015986		
CL:0002632	biolink:Cell	epithelial cell of lower respiratory tract			mondo.json		http://purl.obolibrary.org/obo/CL_0002632		
CL:0002631	biolink:Cell	epithelial cell of upper respiratory tract			mondo.json		http://purl.obolibrary.org/obo/CL_0002631		
CL:0002634	biolink:Cell	epithelial cell of anal column	An epithelial cell of the anal column.		mondo.json		http://purl.obolibrary.org/obo/CL_0002634		
GO:0015985	biolink:NamedThing	energy coupled proton transport, down electrochemical gradient	The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that provides energy for the synthesis of ATP or GTP.		mondo.json		http://purl.obolibrary.org/obo/GO_0015985		
GO:0015980	biolink:NamedThing	energy derivation by oxidation of organic compounds	The chemical reactions and pathways by which a cell derives energy from organic compounds; results in the oxidation of the compounds from which energy is released.		mondo.json	chemoorganotrophy	http://purl.obolibrary.org/obo/GO_0015980		
HGNC:26559	biolink:NamedThing	ZFYVE27			mondo.json		http://identifiers.org/hgnc/26559		
HGNC:26558	biolink:NamedThing	HYLS1			mondo.json		http://identifiers.org/hgnc/26558		
GO:1904539	biolink:NamedThing	negative regulation of glycolytic process through fructose-6-phosphate	Any process that stops, prevents or reduces the frequency, rate or extent of glycolytic process through fructose-6-phosphate.		mondo.json	downregulation of glycolytic process through fructose-6-phosphate|downregulation of glycolysis through fructose-6-phosphate|down-regulation of glycolysis through fructose-6-phosphate|down-regulation of glycolytic process through fructose-6-phosphate|negative regulation of glycolysis through fructose-6-phosphate|down regulation of glycolysis through fructose-6-phosphate|down regulation of glycolytic process through fructose-6-phosphate|inhibition of glycolytic process through fructose-6-phosphate|inhibition of glycolysis through fructose-6-phosphate	http://purl.obolibrary.org/obo/GO_1904539		
HGNC:497	biolink:NamedThing	TRPA1			mondo.json		http://identifiers.org/hgnc/497		
GO:1904538	biolink:NamedThing	regulation of glycolytic process through fructose-6-phosphate	Any process that modulates the frequency, rate or extent of glycolytic process through fructose-6-phosphate.		mondo.json	regulation of glycolysis through fructose-6-phosphate	http://purl.obolibrary.org/obo/GO_1904538		
CL:0002603	biolink:Cell	astrocyte of the cerebellum	An astrocyte of the cerebellum.		mondo.json		http://purl.obolibrary.org/obo/CL_0002603		
HGNC:26551	biolink:NamedThing	DZIP1L			mondo.json		http://identifiers.org/hgnc/26551		
HGNC:496	biolink:NamedThing	RIPK4			mondo.json		http://identifiers.org/hgnc/496		
CL:0002602	biolink:Cell	annulus pulposus cell			mondo.json	anulus pulposus cell	http://purl.obolibrary.org/obo/CL_0002602		
CL:0002605	biolink:Cell	astrocyte of the cerebral cortex	An astrocyte of the cerebral cortex.		mondo.json		http://purl.obolibrary.org/obo/CL_0002605		
HGNC:494	biolink:NamedThing	ANK3			mondo.json		http://identifiers.org/hgnc/494		
CL:0002604	biolink:Cell	astrocyte of the hippocampus			mondo.json		http://purl.obolibrary.org/obo/CL_0002604		
HGNC:493	biolink:NamedThing	ANK2			mondo.json		http://identifiers.org/hgnc/493		
HGNC:492	biolink:NamedThing	ANK1			mondo.json		http://identifiers.org/hgnc/492		
CL:0002606	biolink:Cell	astrocyte of the spinal cord	An astrocyte of the spinal cord.		mondo.json		http://purl.obolibrary.org/obo/CL_0002606		
HGNC:491	biolink:NamedThing	ANGPTL3			mondo.json		http://identifiers.org/hgnc/491		
CL:0002609	biolink:Cell	obsolete neuron of cerebral cortex	OBSOLETE. A CNS neuron of the cerebral cortex.	FMA:84104|BTO:0004102	mondo.json	cortical neuron	http://purl.obolibrary.org/obo/CL_0002609		
CL:0002608	biolink:Cell	hippocampal neuron	A neuron of the hippocampus.		mondo.json		http://purl.obolibrary.org/obo/CL_0002608		
GO:1904540	biolink:NamedThing	positive regulation of glycolytic process through fructose-6-phosphate	Any process that activates or increases the frequency, rate or extent of glycolytic process through fructose-6-phosphate.		mondo.json	upregulation of glycolysis through fructose-6-phosphate|upregulation of glycolytic process through fructose-6-phosphate|up-regulation of glycolytic process through fructose-6-phosphate|up-regulation of glycolysis through fructose-6-phosphate|up regulation of glycolytic process through fructose-6-phosphate|up regulation of glycolysis through fructose-6-phosphate|activation of glycolysis through fructose-6-phosphate|activation of glycolytic process through fructose-6-phosphate|positive regulation of glycolysis through fructose-6-phosphate	http://purl.obolibrary.org/obo/GO_1904540		
CL:0002601	biolink:Cell	uterine smooth muscle cell	A smooth muscle cell of the uterus.		mondo.json		http://purl.obolibrary.org/obo/CL_0002601		
HGNC:14579	biolink:NamedThing	VPS45			mondo.json		http://identifiers.org/hgnc/14579		
CL:0002600	biolink:Cell	smooth muscle cell of trachea	A smooth muscle cell of the trachea.		mondo.json		http://purl.obolibrary.org/obo/CL_0002600		
CL:0002616	biolink:Cell	perirenal adipocyte cell	A fat cell of perirenal fat tissue.		mondo.json	perirenal fat cell	http://purl.obolibrary.org/obo/CL_0002616		
HGNC:26560	biolink:NamedThing	ODAD1			mondo.json		http://identifiers.org/hgnc/26560		
CL:0002615	biolink:Cell	adipocyte of omentum tissue	A fat cell that is part of omentum tissue.		mondo.json	omental adipocyte|omental fat cell	http://purl.obolibrary.org/obo/CL_0002615		
ENVO:01000406	biolink:NamedThing	snow	Snow is an environmental material which is primarily composed of flakes of crystalline water ice.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000406		
CL:0002617	biolink:Cell	adipocyte of breast	A fat cell that is part of the breast.	CALOHA:TS-2377	mondo.json	fat cell of breast|breast adipocyte	http://purl.obolibrary.org/obo/CL_0002617		
ENVO:01000408	biolink:NamedThing	environmental zone	A site which has its extent determined by the presence or influence of one or more components of an environmental system or the processes occurring therein.		mondo.json	environmental area	http://purl.obolibrary.org/obo/ENVO_01000408		
HGNC:14581	biolink:NamedThing	PINK1			mondo.json		http://identifiers.org/hgnc/14581		
HGNC:14583	biolink:NamedThing	VPS11			mondo.json		http://identifiers.org/hgnc/14583		
FOODON:03430130	biolink:NamedThing	food (liquid)	A state of matter between a solid and a gas, in which a substance has the capacity to flow and conforms to the shape of the container. Liquids range from water to honey, corresponding to a range in viscosity (or apparent viscosity) from 1 to 500 centipoise (viscosity is a measure of a liquid's resistance to flow). Products that are pourable but have a higher viscosity are *SEMILIQUID*.	SUBSET_SIREN:F5105	mondo.json		http://purl.obolibrary.org/obo/FOODON_03430130		
FOODON:03430131	biolink:NamedThing	whole	Refers to natural or formed shape as appropriate, regardless of size, which may vary from very large (e.g., beef carcass) to very small (e.g., poppy seed, yeast cell).		mondo.json		http://purl.obolibrary.org/obo/FOODON_03430131		
HGNC:26530	biolink:NamedThing	CFAP53			mondo.json		http://identifiers.org/hgnc/26530		
MONDO:0013598	biolink:Disease	myostatin-related muscle hypertrophy	Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance.	GARD:0010238|DOID:0111072|MESH:C536106|HGNC:4223|SCTID:699185005|Orphanet:275534|ICD9:756.89|OMIM:614160	mondo.json	muscle hypertrophy|MSLHP	http://purl.obolibrary.org/obo/MONDO_0013598	http://identifiers.org/mesh/C536106|DOID:0111072|https://omim.org/entry/614160|http://identifiers.org/snomedct/699185005|Orphanet:275534	ordo_disease|gard_rare
MONDO:0013599	biolink:Disease	autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.	Orphanet:391487|UMLS:C3279990|GARD:0012314|OMIM:614162	mondo.json	familial chronic mucocutaneous, autosomal dominant|immunodeficiency type 31C|IMD31C|CANDF7|candidiasis familial, 7|candidiasis familial chronic mucocutaneous, autosomal dominant|candidiasis, familial, 7|immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant|candidiasis, familial chronic mucocutaneous, autosomal dominant|immunodeficiency 31C	http://purl.obolibrary.org/obo/MONDO_0013599	Orphanet:391487|UMLS:C3279990|https://omim.org/entry/614162	predisposition|ordo_disease
MONDO:0013596	biolink:Disease	obsolete nonsyndromic congenital nail disorder 10		OMIM:614157	mondo.json		http://purl.obolibrary.org/obo/MONDO_0013596	https://omim.org/entry/614157	
MONDO:0013597	biolink:Disease	platelet-type bleeding disorder 14	Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene.	UMLS:C0398635|SCTID:234477002|OMIM:614158|DOID:0111047|MESH:C562866	mondo.json	thromboxane synthetase deficiency|TBXAS1 inherited bleeding disorder, platelet-type|inherited bleeding disorder, platelet-type caused by mutation in TBXAS1|bleeding disorder, platelet-type, 14|thromboxane synthase deficiency|BDPLT14	http://purl.obolibrary.org/obo/MONDO_0013597	DOID:0111047|UMLS:C0398635|https://omim.org/entry/614158|http://identifiers.org/mesh/C562866|http://identifiers.org/snomedct/234477002	
HGNC:14558	biolink:NamedThing	CLEC7A			mondo.json		http://identifiers.org/hgnc/14558		
MONDO:0013590	biolink:Disease	Stickler syndrome, type 4	Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene.	OMIM:614134	mondo.json	STICKLER syndrome, type IV|COL9A1 autosomal recessive Stickler syndrome|STL4|autosomal recessive Stickler syndrome caused by mutation in COL9A1	http://purl.obolibrary.org/obo/MONDO_0013590	https://omim.org/entry/614134	
MONDO:0013591	biolink:Disease	epiphyseal dysplasia, multiple, 6	Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene.	DOID:0070301|OMIM:614135|GARD:0013376|UMLS:C2675767	mondo.json	epiphyseal dysplasia, multiple, type 6|EDM6|multiple epiphyseal dysplasia (disease) caused by mutation in COL9A1|multiple epiphyseal dysplasia 6|epiphyseal dysplasia, multiple, 6|COL9A1 multiple epiphyseal dysplasia (disease)	http://purl.obolibrary.org/obo/MONDO_0013591	UMLS:C2675767|https://omim.org/entry/614135|DOID:0070301	gard_rare
CL:0000080	biolink:Cell	circulating cell	A cell which moves among different tissues of the body, via blood, lymph, or other medium.		mondo.json		http://purl.obolibrary.org/obo/CL_0000080		
CL:0000081	biolink:Cell	blood cell	A cell found predominately in the blood.	FMA:62844	mondo.json		http://purl.obolibrary.org/obo/CL_0000081		
MONDO:0013594	biolink:Disease	spinocerebellar ataxia type 36	Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.	DOID:0050983|GARD:0012367|Orphanet:276198|UMLS:C3472711|OMIM:614153|SCTID:711158005|NCIT:C148316	mondo.json	spinocerebellar ataxia 36|spinocerebellar ataxia type 36|Asidan|SCA36	http://purl.obolibrary.org/obo/MONDO_0013594	http://identifiers.org/snomedct/711158005|DOID:0050983|https://omim.org/entry/614153|Orphanet:276198|NCIT:C148316|UMLS:C3472711	ordo_disease
CL:0000082	biolink:Cell	epithelial cell of lung	An epithelial cell of the lung.	BTO:0004299	mondo.json	lung epithelial cell	http://purl.obolibrary.org/obo/CL_0000082		
MONDO:0013595	biolink:Disease	hyperbiliverdinemia	Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported.	OMIM:614156|UMLS:C3279964|Orphanet:276405	mondo.json	HBLVD|hyperbiliverdinemia|green jaundice	http://purl.obolibrary.org/obo/MONDO_0013595	UMLS:C3279964|https://omim.org/entry/614156|Orphanet:276405	ordo_disease
CL:0000083	biolink:Cell	epithelial cell of pancreas	An epithelial cell of the pancreas.	BTO:0000028	mondo.json	pancreas epithelial cell|pancreatic epithelial cell	http://purl.obolibrary.org/obo/CL_0000083		
MONDO:0013592	biolink:Disease	nonsyndromic congenital nail disorder 9		OMIM:614149|ICD9:703.8|SCTID:87065009|DOID:0080087|UMLS:C3279947	mondo.json	nonsyndromic congenital nail disorder type 9|onychodystrophy|NDNC9|anonychia-onycholysis, isolated|nail disorder, nonsyndromic congenital, 9|nail dysplasia	http://purl.obolibrary.org/obo/MONDO_0013592	http://identifiers.org/snomedct/87065009|UMLS:C3279947|https://omim.org/entry/614149|DOID:0080087	
CL:0000084	biolink:Cell	T cell	A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex.	FMA:62870|VHOG:0001479|BTO:0000782|CALOHA:TS-1001	mondo.json	T-lymphocyte|mature T cell|immature T cell|T-cell|T lymphocyte	http://purl.obolibrary.org/obo/CL_0000084		
MONDO:0013593	biolink:Disease	autosomal dominant nonsyndromic hearing loss 64	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene.	UMLS:C3279948|DOID:0110585|OMIM:614152	mondo.json	deafness, autosomal dominant 64|DFNA64|autosomal dominant deafness 64|autosomal dominant nonsyndromic deafness 64|DIABLO autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 64|autosomal dominant nonsyndromic deafness caused by mutation in DIABLO|autosomal dominant nonsyndromic deafness type 64	http://purl.obolibrary.org/obo/MONDO_0013593	UMLS:C3279948|https://omim.org/entry/614152|DOID:0110585	clingen
HGNC:14550	biolink:NamedThing	CDHR1			mondo.json		http://identifiers.org/hgnc/14550		
NCBITaxon:1131492	biolink:OrganismalEntity	Aspergillaceae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1131492		
MONDO:0013587	biolink:Disease	glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner.	GARD:0003161|MESH:C563641|UMLS:C3279904|Orphanet:284435|OMIM:614128	mondo.json	lactate dehydrogenase-B deficiency|GSD due to lactate dehydrogenase H-subunit deficiency|lactate dehydrogenase deficiency type B|LDH-H subunit deficiency|LDH deficiency B|lactate dehydrogenase B deficiency|LDHBD|glycogenosis due to lactate dehydrogenase H-subunit deficiency	http://purl.obolibrary.org/obo/MONDO_0013587	Orphanet:284435|UMLS:C3279904|https://omim.org/entry/614128|http://identifiers.org/mesh/C563641	gard_rare|ordo_clinical_subtype
CL:0000097	biolink:Cell	mast cell	A cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. Progenitors leave bone marrow and mature in connective and mucosal tissue. Mature mast cells are found in all tissues, except the bloodstream. Their phenotype is CD117-high, CD123-negative, CD193-positive, CD200R3-positive, and FceRI-high. Stem-cell factor (KIT-ligand; SCF) is the main controlling signal of their survival and development.	FMA:66784|BTO:0000830|CALOHA:TS-0603	mondo.json	histaminocyte|mastocyte|labrocyte|tissue basophil	http://purl.obolibrary.org/obo/CL_0000097		
MONDO:0013588	biolink:Disease	Perrault syndrome 3	Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene.	UMLS:C3808414|OMIM:614129	mondo.json	CLPP Perrault syndrome|deafness, autosomal recessive 81, formerly|PRLTS3|Perrault syndrome caused by mutation in CLPP|deafness, autosomal recessive 81|Perrault syndrome type 3|Perrault syndrome 3	http://purl.obolibrary.org/obo/MONDO_0013588	https://omim.org/entry/614129|UMLS:C3808414	
CL:0000098	biolink:Cell	sensory epithelial cell	A specialized epithelial cell involved in sensory perception. Restricted to special sense organs of the olfactory, gustatory, and vestibulocochlear receptor systems; contain sensory cells surrounded by supportive, non-receptive cells.	BTO:0004301	mondo.json	neuroepithelial cell	http://purl.obolibrary.org/obo/CL_0000098		
CL:0000099	biolink:Cell	interneuron	Most generally any neuron which is not motor or sensory. Interneurons may also refer to neurons whose axons remain within a particular brain region as contrasted with projection neurons which have axons projecting to other brain regions.	FMA:67313|WBbt:0005113|FBbt:00005125|BTO:0003811	mondo.json		http://purl.obolibrary.org/obo/CL_0000099		
MONDO:0013585	biolink:Disease	hydrolethalus syndrome 2	Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene.	DOID:0111356|UMLS:C3279899|OMIM:614120	mondo.json	HLS2|hydrolethalus syndrome caused by mutation in KIF7|hydrolethalus syndrome 2|KIF7 hydrolethalus syndrome|hydrolethalus syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0013585	DOID:0111356|UMLS:C3279899|https://omim.org/entry/614120	
MONDO:0013586	biolink:Disease	obsolete Chitotriosidase deficiency		OMIM:614122|UMLS:C3279902	mondo.json	CHITD|CHITOTRIOSIDASE deficiency|Chitotriosidase deficiency|chitotriosidase deficiency	http://purl.obolibrary.org/obo/MONDO_0013586	UMLS:C3279902|https://omim.org/entry/614122	
MONDO:0013589	biolink:Disease	focal segmental glomerulosclerosis 6	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene.	DOID:0111131|OMIM:614131|UMLS:C3279905|Orphanet:656	mondo.json	MYO1E focal segmental glomerulosclerosis|FSGS6|focal segmental glomerulosclerosis 6|glomerulosclerosis, focal segmental, 6|focal segmental glomerulosclerosis type 6|focal segmental glomerulosclerosis caused by mutation in MYO1E	http://purl.obolibrary.org/obo/MONDO_0013589	DOID:0111131|UMLS:C3279905|https://omim.org/entry/614131	
CL:1000042	biolink:Cell	forebrain neuroblast			mondo.json		http://purl.obolibrary.org/obo/CL_1000042		
MONDO:0013580	biolink:Disease	pyruvate dehydrogenase E1-beta deficiency	Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia.	Orphanet:255138|OMIM:614111|MESH:C566729|UMLS:C3279841	mondo.json	PDHBD|pyruvate dehydrogenase E1-BETA deficiency|pyruvate dehydrogenase E1-beta deficiency|pyruvate dehydrogenase complex E1 component subunit beta deficiency	http://purl.obolibrary.org/obo/MONDO_0013580	Orphanet:255138|http://identifiers.org/mesh/C566729|UMLS:C3279841|https://omim.org/entry/614111	ordo_clinical_subtype
MONDO:0013583	biolink:Disease	occipital pachygyria and polymicrogyria		Orphanet:280640|UMLS:C3279875|OMIM:614115	mondo.json	occipital malformations of cortical development|OCCM|occipital MCD|cortical malformations, occipital	http://purl.obolibrary.org/obo/MONDO_0013583	UMLS:C3279875|https://omim.org/entry/614115|Orphanet:280640	ordo_malformation_syndrome
MONDO:0013584	biolink:Disease	hereditary sensory neuropathy-deafness-dementia syndrome	A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13.	OMIM:614116|DOID:0070158|MESH:C580162|UMLS:C3279885|GARD:11927|GARD:0011927|Orphanet:456318	mondo.json	HSNIE|hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome|hereditary sensory neuropathy with hearing loss and dementia|hereditary sensory neuropathy type 1E|HSN1E|hereditary sensory neuropathy type IE|DNMT1-related dementia, deafness, and sensory neuropathy|HSAN1E|neuropathy, hereditary sensory, type IE|hereditary sensory and autonomic neuropathy type 1E|neuropathy, hereditary sensory, type 1E|HSN 1E|neuropathy, hereditary sensory, with hearing loss and dementia	http://purl.obolibrary.org/obo/MONDO_0013584	UMLS:C3279885|http://identifiers.org/mesh/C580162|https://omim.org/entry/614116|Orphanet:456318|DOID:0070158	ordo_disease
CL:0000094	biolink:Cell	granulocyte	A leukocyte with abundant granules in the cytoplasm.	CALOHA:TS-0422|BTO:0000539|FMA:62854|BTO:0001026	mondo.json	granular leucocyte|polymorphonuclear leukocyte|granular leukocyte	http://purl.obolibrary.org/obo/CL_0000094		
MONDO:0013581	biolink:Disease	intellectual disability, autosomal dominant 2	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene.	UMLS:C3279842|OMIM:614113|DOID:0070032	mondo.json	autosomal dominant intellectual disability 2|intellectual disability, autosomal dominant 2|mental retardation, autosomal dominant 2|intellectual disability, autosomal dominant type 2|mental retardation, autosomal dominant type 2|autosomal dominant non-syndromic intellectual disability 2|autosomal dominant non-syndromic intellectual disability caused by mutation in DOCK8|autosomal dominant mental retardation 2|DOCK8 autosomal dominant non-syndromic intellectual disability|MRD2	http://purl.obolibrary.org/obo/MONDO_0013581	UMLS:C3279842|https://omim.org/entry/614113|DOID:0070032	
CL:0000095	biolink:Cell	neuron associated cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000095		
MONDO:0013582	biolink:Disease	mosaic variegated aneuploidy syndrome 2	Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene.	UMLS:C3279843|OMIM:614114|DOID:0080142	mondo.json	MOSAIC variegated aneuploidy syndrome 2|CEP57 mosaic variegated aneuploidy syndrome|mosaic variegated aneuploidy syndrome 2|MVA2|mosaic variegated aneuploidy syndrome caused by mutation in CEP57|mosaic variegated aneuploidy syndrome type 2|Mosaic variegated aneuploidy syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0013582	DOID:0080142|UMLS:C3279843|https://omim.org/entry/614114	
HGNC:14561	biolink:NamedThing	ARHGEF9			mondo.json		http://identifiers.org/hgnc/14561		
GO:1990497	biolink:NamedThing	regulation of cytoplasmic translation in response to stress	Modulation of the frequency, rate or extent of cytoplasmic translation as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation).		mondo.json		http://purl.obolibrary.org/obo/GO_1990497		
MONDO:0001587	biolink:Disease	obsolete mucopolysaccharidosis type 4			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001587		
MONDO:0001586	biolink:Disease	mucopolysaccharidosis type 1	The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome).	NCIT:C85053|SCTID:75610003|MedDRA:10056886|GARD:0010335|DOID:12802|Orphanet:579	mondo.json	IDUA deficiency|MPSI|Alpha-L-iduronidase deficiency|MPS 1|Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V)|mucopolysaccharidosis I|severe MPS I (subtype, also known as Hurler syndrome)|attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)|iduronidase deficiency disease|mucopolysaccharidosis, MPS-I|MPS I - Hurler syndrome|mucopolysaccharidosis, type 1|Hurler syndrome|MPS1|MPS I|Hurler-Scheie syndrome (subtype)|lipochondrodystrophy|mucopolysaccharidosis type I|mucopolysaccharidosis type 1|Hurler syndrome (subtype)	http://purl.obolibrary.org/obo/MONDO_0001586	http://identifiers.org/snomedct/75610003|Orphanet:579|NCIT:C85053|DOID:12802	ordo_disease
FOODON:03430150	biolink:NamedThing	whole, natural shape			mondo.json		http://purl.obolibrary.org/obo/FOODON_03430150		
MONDO:0001585	biolink:Disease	hallucinogen abuse	A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences.	ICD9:305.3|SCTID:74851005|DOID:12797	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001585	http://identifiers.org/snomedct/74851005|DOID:12797	
MONDO:0025556	biolink:Disease	isocyanate induced asthma		SCTID:404808000|DOID:0040041|UMLS:C1321273|ICD9:506.3	mondo.json	isocyanates allergic asthma	http://purl.obolibrary.org/obo/MONDO_0025556	DOID:0040041|UMLS:C1321273|http://identifiers.org/snomedct/404808000	
HGNC:26513	biolink:NamedThing	NSMCE2			mondo.json		http://identifiers.org/hgnc/26513		
CHEBI:76668	biolink:ChemicalSubstance	EC 2.7.* (P-containing group transferase) inhibitor	A transferase inhibitor that inhibits the action of a phosphorus-containing group transferase (EC 2.7.*.*).		mondo.json	EC 2.7.* (phosphorus-containing group transferase) inhibitors|EC 2.7.* inhibitor|EC 2.7.* (P-containing group transferase) inhibitors|phosphorus-containing group transferase inhibitors|phosphorus-containing group transferase (EC 2.7.*) inhibitors|phosphorus-containing group transferase (EC 2.7.*) inhibitor|phosphorus-containing group transferase inhibitor|EC 2.7.* inhibitors|EC 2.7.* (phosphorus-containing group transferase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76668		
MONDO:0001584	biolink:Disease	ocular motility disease		ICD9:378.9|DOID:1279|EFO:1001990|GARD:0007237|SCTID:45030009	mondo.json	disorder of eye movements|eye movement disorder	http://purl.obolibrary.org/obo/MONDO_0001584	DOID:1279|http://identifiers.org/snomedct/45030009	
MONDO:0001589	biolink:Disease	obsolete vaginal enterocele		MESH:D006547|ICD9:618.6|DOID:1283|SCTID:398061002	mondo.json	enterocele|vaginal hernia	http://purl.obolibrary.org/obo/MONDO_0001589	http://identifiers.org/snomedct/398061002|DOID:1283	
MONDO:0001588	biolink:Disease	chronic lacrimal gland enlargement		ICD9:375.03|DOID:12809|SCTID:4839005|UMLS:C1300133	mondo.json	chronic enlargement of lacrimal gland	http://purl.obolibrary.org/obo/MONDO_0001588	UMLS:C1300133|http://identifiers.org/snomedct/4839005|DOID:12809	
MONDO:0001583	biolink:Disease	diabetic polyneuropathy		UMLS:C0271680|DOID:12785|ICD9:357.2|SCTID:49455004	mondo.json	polyneuropathy in diabetes|diabetes mellitus with polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0001583	UMLS:C0271680|http://identifiers.org/snomedct/49455004|DOID:12785	
MONDO:0001582	biolink:Disease	cicatricial ectropion		DOID:12782|SCTID:28914006|UMLS:C0155196|ICD9:374.14	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001582	UMLS:C0155196|DOID:12782|http://identifiers.org/snomedct/28914006	
CHEBI:15705	biolink:ChemicalSubstance	L-alpha-amino acid	Any alpha-amino acid having L-configuration at the alpha-carbon.		mondo.json	L-Amino acid|L-2-Amino acid|L-alpha-amino acids|L-alpha-amino acids|L-alpha-amino acid	http://purl.obolibrary.org/obo/CHEBI_15705		
MONDO:0001581	biolink:Disease	obsolete tolosa-hunt syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001581		
MONDO:0001580	biolink:Disease	lacrimal duct cancer	A primary or metastatic malignant neoplasm affecting the lacrimal duct.	UMLS:C0153631|DOID:12756|ICD9:190.7|NCIT:C3567|SCTID:188274004	mondo.json	malignant neoplasm of lacrimal drainage system|malignant neoplasm of the lacrimal duct|malignant lacrimal drainage system neoplasm|malignant lacrimal duct tumor|malignant tumor of the lacrimal duct|malignant lacrimal duct neoplasm|cancer of lacrimal drainage system|malignant tumor of lacrimal duct|lacrimal drainage system cancer|malignant neoplasm of lacrimal duct	http://purl.obolibrary.org/obo/MONDO_0001580	NCIT:C3567|DOID:12756|http://identifiers.org/snomedct/188274004|UMLS:C0153631	
MONDO:0013576	biolink:Disease	recurrent infections associated with rare immunoglobulin isotypes deficiency	Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.	Orphanet:183675|UMLS:C3279824|MESH:C564131|OMIM:614102	mondo.json	IgG subclass deficiency with IgA subclass deficiency|kappa-chain deficiency|IGKCD|kappa light chain deficiency|recurrent infections associated with rare immunoglobulin isotypes deficiency|IMMUNOGLOBULIN kappa LIGHT chain deficiency|isolated IgG subclass deficiency|selective IgG subclass deficiency|kappa chain deficiency	http://purl.obolibrary.org/obo/MONDO_0013576	Orphanet:183675|http://identifiers.org/mesh/C564131|UMLS:C3279824|https://omim.org/entry/614102	ordo_disease
CL:0000064	biolink:Cell	ciliated cell	A cell that has a filiform extrusion of the cell surface.	XAO:0000031|VHOG:0001532	mondo.json		http://purl.obolibrary.org/obo/CL_0000064		
HGNC:14537	biolink:NamedThing	NPC2			mondo.json		http://identifiers.org/hgnc/14537		
MONDO:0013577	biolink:Disease	Lipedema	Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of subcutaneous fat often in obese women. It is associated with hematoma, pain and may progress to secondary lymphedema which is known as lipolymphedema.	Orphanet:77243|MESH:D065134|SCTID:234102003|UMLS:C0020473|OMIM:614103|MedDRA:10063955|HP:0100695	mondo.json	lipedema|Lipedema (disease)	http://purl.obolibrary.org/obo/MONDO_0013577	http://identifiers.org/snomedct/234102003|http://identifiers.org/mesh/D065134|https://omim.org/entry/614103|Orphanet:77243	ordo_disease
CL:0000065	biolink:Cell	ependymal cell	A neurectoderm derived cell that lines the neural lumen.	FMA:70550|BTO:0001724	mondo.json	ependymocyte	http://purl.obolibrary.org/obo/CL_0000065		
CL:0000066	biolink:Cell	epithelial cell	A cell that is usually found in a two-dimensional sheet with a free surface. The cell has a cytoskeleton that allows for tight cell to cell contact and for cell polarity where apical part is directed towards the lumen and the basal part to the basal lamina.	BTO:0000414|FMA:66768|WBbt:0003672|CARO:0000077|CALOHA:TS-2026|FBbt:00000124	mondo.json	epitheliocyte	http://purl.obolibrary.org/obo/CL_0000066		
MONDO:0013574	biolink:Disease	cutis laxa - Marfanoid syndrome		UMLS:C0432335|Orphanet:171719|MESH:C563639|OMIM:614100|SCTID:254221009	mondo.json	cutis laxa - Marfanoid syndrome|cutis laxa, neonatal, with MARFANOID phenotype	http://purl.obolibrary.org/obo/MONDO_0013574	http://identifiers.org/snomedct/254221009|Orphanet:171719|UMLS:C0432335|https://omim.org/entry/614100|http://identifiers.org/mesh/C563639	ordo_malformation_syndrome
HGNC:14539	biolink:NamedThing	RNF213			mondo.json		http://identifiers.org/hgnc/14539		
CL:0000067	biolink:Cell	ciliated epithelial cell	An epithelial cell that has a cilia.	FMA:70605	mondo.json		http://purl.obolibrary.org/obo/CL_0000067		
MONDO:0013575	biolink:Disease	plasma fibronectin deficiency		OMIM:614101	mondo.json	plasma fibronectin deficiency	http://purl.obolibrary.org/obo/MONDO_0013575	https://omim.org/entry/614101	
CL:0000068	biolink:Cell	duct epithelial cell	An epithelial cell that is part of a duct.		mondo.json		http://purl.obolibrary.org/obo/CL_0000068		
CL:0000069	biolink:Cell	branched duct epithelial cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000069		
MONDO:0013578	biolink:Disease	DYRK1A-related intellectual disability syndrome	An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13.	UMLS:C3279839|Orphanet:464306|OMIM:614104|DOID:0070037	mondo.json	autosomal dominant mental retardation 7|mental retardation, autosomal dominant type 7|mental retardation, autosomal dominant 7|autosomal dominant intellectual disability 7|intellectual disability, autosomal dominant type 7|MRD7|intellectual disability, autosomal dominant 7|autosomal dominant non-syndromic intellectual disability 7	http://purl.obolibrary.org/obo/MONDO_0013578	DOID:0070037|Orphanet:464306|UMLS:C3279839|https://omim.org/entry/614104	ordo_malformation_syndrome
MONDO:0013579	biolink:Disease	methylmalonate semialdehyde dehydrogenase deficiency		UMLS:C3279840|MESH:C566402|OMIM:614105|Orphanet:289307	mondo.json	MMSDHD|methylmalonate semialdehyde dehydrogenase deficiency|developmental delay due to ALDH6A1 deficiency|developmental delay due to MMSDH deficiency|MMSDH deficiency|developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0013579	http://identifiers.org/mesh/C566402|UMLS:C3279840|https://omim.org/entry/614105|Orphanet:289307	ordo_disease
CL:1000073	biolink:Cell	spinal cord radial glial cell			mondo.json		http://purl.obolibrary.org/obo/CL_1000073		
OBO:ECTO_9000266	biolink:NamedThing	obsolete chemical entity exposure			mondo.json		http://purl.obolibrary.org/obo/ECTO_9000266		
MONDO:0013572	biolink:Disease	Keppen-Lubinsky syndrome		Orphanet:435628|OMIM:614098|UMLS:C3279800	mondo.json	KEPPEN-Lubinsky syndrome|Keppen-Lubinsky syndrome|generalized lipodystrophy-progeroid features-severe intellectual disability syndrome|KPLBS	http://purl.obolibrary.org/obo/MONDO_0013572	UMLS:C3279800|Orphanet:435628|https://omim.org/entry/614098	ordo_malformation_syndrome
CL:0000060	biolink:Cell	odontoblast	Skeletogenic cell that secretes dentine matrix, is derived from the odontogenic papilla, and develops from a preodontoblast cell.	CALOHA:TS-0696|FMA:62999|BTO:0001769	mondo.json		http://purl.obolibrary.org/obo/CL_0000060		
MONDO:0013573	biolink:Disease	cranioectodermal dysplasia 3	Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene.	UMLS:C3279807|OMIM:614099	mondo.json	cranioectodermal dysplasia 3|cranioectodermal dysplasia caused by mutation in IFT43|CED3|Cranioectodermal dysplasia type 3|IFT43 cranioectodermal dysplasia|CRANIOECTODERMAL dysplasia 3	http://purl.obolibrary.org/obo/MONDO_0013573	UMLS:C3279807|https://omim.org/entry/614099	
MONDO:0013570	biolink:Disease	combined oxidative phosphorylation defect type 8	Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.	UMLS:C3279793|Orphanet:319504|DOID:0111479|UMLS:C4518839|SCTID:733600007|OMIM:614096	mondo.json	combined oxidative phosphorylation deficiency type 8|cardiomyopathy, hypertrophic mitochondrial, fatal infantile|combined oxidative phosphorylation deficiency caused by mutation in AARS2|combined oxidative phosphorylation deficiency 8|COXPD8|AARS2 combined oxidative phosphorylation deficiency	http://purl.obolibrary.org/obo/MONDO_0013570	http://identifiers.org/snomedct/733600007|UMLS:C3279793|DOID:0111479|https://omim.org/entry/614096|Orphanet:319504|UMLS:C4518839	ordo_disease
CL:0000062	biolink:Cell	osteoblast	Skeletogenic cell that secretes osteoid, is capable of producing mineralized (hydroxyapatite) matrix, is located adjacent to or within osteoid tissue, and arises from the transformation of a preosteoblast cell.	CALOHA:TS-0720|BTO:0001593|FMA:66780	mondo.json		http://purl.obolibrary.org/obo/CL_0000062		
MONDO:0013571	biolink:Disease	acatalasia	A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide.	ICD9:277.6|SCTID:124202004|HGNC:1516|NCIT:C84526|MESH:D020642|DOID:2582|GARD:0000363|EFO:0004144|UMLS:C0268419|Orphanet:926|OMIM:614097	mondo.json	deficiency of catalase|catalase deficiency|acatalasia|acatalasemia	http://purl.obolibrary.org/obo/MONDO_0013571	Orphanet:926|https://omim.org/entry/614097|DOID:2582|NCIT:C84526|http://identifiers.org/snomedct/124202004|http://identifiers.org/mesh/D020642|UMLS:C0268419	ordo_disease
MONDO:0001598	biolink:Disease	benign lymphoepithelial lesion of salivary gland	A benign lesion that involves the salivary glands, usually the parotid gland. It affects females more often than males and it may be a manifestation of autoimmune diseases such as Sjogren syndrome. There is an increased incidence of benign lymphoepithelial lesions in HIV-positive patients. It is characterized by the presence of a marked lymphocytic infiltrate and epi-myoepithelial islands in the affected salivary gland. Patients usually present with firm and painless swelling of the affected salivary gland. There is an increased risk for development of lymphoma.	UMLS:C0266995|NCIT:C3949|SCTID:45517002|ICD9:527.8|DOID:12899	mondo.json	benign lymphoepithelial lesion of salivary gland|benign lymphoepithelial lesion of the salivary gland|benign salivary gland lymphoepithelial lesion|Godwin tumor	http://purl.obolibrary.org/obo/MONDO_0001598	NCIT:C3949|http://identifiers.org/snomedct/45517002|UMLS:C0266995|DOID:12899	
MONDO:0001597	biolink:Disease	submandibular gland disorder	A disease involving the submandibular gland.	UMLS:C0038557|MESH:D013364|DOID:12897	mondo.json	disease of submandibular gland|submandibular gland disease or disorder|disorder of submandibular gland|submandibular gland disease|disease or disorder of submandibular gland	http://purl.obolibrary.org/obo/MONDO_0001597	http://identifiers.org/mesh/D013364|UMLS:C0038557|DOID:12897	
MONDO:0001596	biolink:Disease	hypochondriasis	A somatoform disorder in which an individual is preoccupied with having a serious illness despite not having been given a corroborating diagnosis.	MESH:D006998|SCTID:18193002|ICD9:300.7|DOID:12883	mondo.json	hypochondria|hypochondriacal neurosis|hypochondriacal disorder	http://purl.obolibrary.org/obo/MONDO_0001596	DOID:12883|http://identifiers.org/mesh/D006998|http://identifiers.org/snomedct/18193002	
MONDO:0001595	biolink:Disease	choreatic disease	A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease.	SCTID:230298007|ICD9:333.5|HP:0002072|DOID:12859|Orphanet:1429|MESH:D002819|NCIT:C84633|EFO:0004152|SCTID:230306001	mondo.json	BHC|hereditary benign chorea|hereditary chorea|benign familial chorea|hereditary progressive chorea without dementia|Bch|chorea, benign hereditary	http://purl.obolibrary.org/obo/MONDO_0001595	http://identifiers.org/mesh/D002819|Orphanet:1429|http://identifiers.org/snomedct/230306001|http://identifiers.org/snomedct/230298007|DOID:12859|NCIT:C84633	ordo_disease
MONDO:0001599	biolink:Disease	obsolete Mikulicz disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001599		
HGNC:26527	biolink:NamedThing	HGSNAT			mondo.json		http://identifiers.org/hgnc/26527		
MONDO:0001590	biolink:Disease	quadriplegia	Paralysis of all four limbs.	NCIT:C50721|DOID:12835|UMLS:C0034372|ICD9:344.00|MESH:D011782|SCTID:11538006|ICD9:344.09	mondo.json	bilateral diplegia|tetraplegia	http://purl.obolibrary.org/obo/MONDO_0001590	NCIT:C50721|http://identifiers.org/snomedct/11538006|http://identifiers.org/mesh/D011782|UMLS:C0034372|DOID:12835	
CHEBI:62031	biolink:ChemicalSubstance	polar amino acid zwitterion	Zwitterionic form of a polar amino acid having an anionic carboxy group and a protonated amino group.		mondo.json	a polar amino acid	http://purl.obolibrary.org/obo/CHEBI_62031		
CHR:9606-chr2q23.1	biolink:NamedThing	2q23.1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr2q23.1		
MONDO:0001594	biolink:Disease	Achilles bursitis	An bursitis involving a pathogenic inflammatory response in the calcaneal tendon.	ICD9:726.71|DOID:12857|UMLS:C0149846	mondo.json	Haglund's disease|capped hock|Haglund's deformity|Achilles bursitis or tendinitis	http://purl.obolibrary.org/obo/MONDO_0001594	DOID:12857|UMLS:C0149846	
MONDO:0001593	biolink:Disease	rectal disorder	A disease that involves the rectum.	UMLS:C0034882|MESH:D012002|SCTID:5964004|DOID:1285|ICD9:569.49	mondo.json	rectum disease or disorder|disorder of rectum|rectal disorder|disease of rectum|disease or disorder of rectum|rectum disease	http://purl.obolibrary.org/obo/MONDO_0001593	http://identifiers.org/mesh/D012002|http://identifiers.org/snomedct/5964004|DOID:1285|UMLS:C0034882	
HGNC:26521	biolink:NamedThing	LOXHD1			mondo.json		http://identifiers.org/hgnc/26521		
MONDO:0001592	biolink:Disease	prolapse of female genital organ		SCTID:73998008|ICD9:618.89|ICD9:618.8|DOID:1284|ICD10CM:N81|UMLS:C0156349	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001592	UMLS:C0156349|DOID:1284|http://purl.bioontology.org/ontology/ICD10CM/N81|http://identifiers.org/snomedct/73998008	
MONDO:0001591	biolink:Disease	senile entropion		DOID:12836|ICD9:374.01|SCTID:55408009|UMLS:C0155188	mondo.json	involutional entropion	http://purl.obolibrary.org/obo/MONDO_0001591	UMLS:C0155188|http://identifiers.org/snomedct/55408009|DOID:12836	
MONDO:0013565	biolink:Disease	Fanconi anemia complementation group G	Fanconi anemia caused by mutations of the FANCG gene.	EFO:0009046|DOID:0111086|NCIT:C125708|OMIM:614082	mondo.json	Fanconi anemia complementation group G|Fanconi Anemia, complementation group type G|FANCG|Fanconi anemia, complementation group G|Fanconi anemia complementation group type G	http://purl.obolibrary.org/obo/MONDO_0013565	NCIT:C125708|DOID:0111086|https://omim.org/entry/614082	
CL:0000075	biolink:Cell	columnar/cuboidal epithelial cell	A columnar/cuboidal epithelial cell is a cell usually found in a two dimensional sheet with a free surface. Columnar/cuboidal epithelial cells take on the shape of a column or cube.		mondo.json		http://purl.obolibrary.org/obo/CL_0000075		
MONDO:0013566	biolink:Disease	Fanconi anemia complementation group L	Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.	OMIM:614083|DOID:0111082	mondo.json	Fanconi Anemia, complementation Group 50|FANCL|Fanconi anemia caused by mutation in FANCL|Fanconi Anemia, complementation group type 50|FANCL Fanconi anemia|Fanconi anemia, complementation group L|Fanconi anemia complementation group L|Fanconi anemia complementation group type L	http://purl.obolibrary.org/obo/MONDO_0013566	DOID:0111082|https://omim.org/entry/614083	
CL:0000076	biolink:Cell	squamous epithelial cell		CALOHA:TS-1249	mondo.json		http://purl.obolibrary.org/obo/CL_0000076		
MONDO:0013563	biolink:Disease	multiple congenital anomalies-hypotonia-seizures syndrome 1	Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene.	DOID:0080138|Orphanet:280633|UMLS:C3279775|GARD:0012781|OMIM:614080	mondo.json	multiple congenital anomalies-hypotonia-seizures syndrome|multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN|inherited GPI anchor-deficiency|multiple congenital anomalies-hypotonia-seizures syndrome type 1|MCAHS1|multiple congenital anomalies-hypotonia-seizures syndrome 1|PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability|PIGN-CDG|glycosylphosphatidylinositol biosynthesis defect 3|congenital disorder of glycosylation due to PIGN deficiency|multiple congenital anomalies - hypotonia - seizures syndrome	http://purl.obolibrary.org/obo/MONDO_0013563	DOID:0080138|UMLS:C3279775|https://omim.org/entry/614080|Orphanet:280633	ordo_malformation_syndrome
CL:0000077	biolink:Cell	mesothelial cell	A flattened epithelial cell of mesenchymal origin that lines the serous cavity.	FMA:66773	mondo.json	mesotheliocyte	http://purl.obolibrary.org/obo/CL_0000077		
MONDO:0013564	biolink:Disease	anhaptoglobinemia		OMIM:614081|UMLS:C3279786	mondo.json	Ahaptoglobinemia|AHP|anhaptoglobinemia|hypohaptoglobinemia|ANHAPTOGLOBINEMIA	http://purl.obolibrary.org/obo/MONDO_0013564	UMLS:C3279786|https://omim.org/entry/614081	
CL:0000079	biolink:Cell	stratified epithelial cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000079		
MONDO:0013569	biolink:Disease	short-rib thoracic dysplasia 7 with or without polydactyly	An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.	UMLS:C3279792|OMIM:614091|DOID:0110090|Orphanet:498497	mondo.json	short-rib thoracic dysplasia 7 with or without polydactyly|short rib-polydactyly syndrome, type 5|short rib-polydactyly syndrom type V|short rib-polydactyly syndrome type 5|SRPS5|SRTD7	http://purl.obolibrary.org/obo/MONDO_0013569	Orphanet:498497|DOID:0110090|UMLS:C3279792|https://omim.org/entry/614091	ordo_malformation_syndrome
HGNC:14544	biolink:NamedThing	WNK4			mondo.json		http://identifiers.org/hgnc/14544		
MONDO:0013567	biolink:Disease	atrial septal defect 3	Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene.	UMLS:C3279790|MESH:C563540|OMIM:614089|DOID:0110108	mondo.json	atrial heart septal defect type 3|atrial heart septal defect caused by mutation in MYH6|ASD3|MYH6 atrial heart septal defect|atrial septal defect type 3|atrial septal defect 3	http://purl.obolibrary.org/obo/MONDO_0013567	DOID:0110108|UMLS:C3279790|https://omim.org/entry/614089|http://identifiers.org/mesh/C563540	
MONDO:0013568	biolink:Disease	sick sinus syndrome 3, susceptibility to	Any familial sick sinus syndrome in which the cause of the disease is a mutation in the MYH6 gene.	OMIM:614090	mondo.json	SSS3|susceptibility to sick sinus syndrome 3|familial sick sinus syndrome caused by mutation in MYH6|sick sinus syndrome 3, susceptibility to|MYH6 familial sick sinus syndrome|sick sinus syndrome 3	http://purl.obolibrary.org/obo/MONDO_0013568	https://omim.org/entry/614090	predisposition
NCBITaxon:555864	biolink:OrganismalEntity	unclassified Bornaviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_555864		
HGNC:14540	biolink:NamedThing	WNK1			mondo.json		http://identifiers.org/hgnc/14540		
MONDO:0013561	biolink:Disease	chondrodysplasia with joint dislocations, gPAPP type		Orphanet:280586|GARD:0011009|OMIM:614078|UMLS:C3279757	mondo.json	gPAPP deficiency|chondrodysplasia with joint dislocations, gPAPP type	http://purl.obolibrary.org/obo/MONDO_0013561	UMLS:C3279757|https://omim.org/entry/614078|Orphanet:280586	ordo_malformation_syndrome
CL:0000071	biolink:Cell	blood vessel endothelial cell	An endothelial cell that lines the vasculature.		mondo.json	cuboidal endothelial cell of vascular tree	http://purl.obolibrary.org/obo/CL_0000071		
MONDO:0013562	biolink:Disease	aspergillosis, susceptibility to		OMIM:614079	mondo.json	susceptibility to aspergillosis|aspergillosis, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0013562	https://omim.org/entry/614079	predisposition
CL:0000072	biolink:Cell	non-branched duct epithelial cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000072		
MONDO:0013560	biolink:Disease	Hermansky-Pudlak syndrome 8	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene.	Orphanet:231537|DOID:0060546|UMLS:CN201510|OMIM:614077|UMLS:C3888026|ICD10CM:E70.3	mondo.json	Hermansky-Pudlak syndrome caused by mutation in BLOC1S3|Hermansky-Pudlak syndrome type 8|Hermansky-Pudlak syndrome 8|BLOC1S3 Hermansky-Pudlak syndrome|HPS8	http://purl.obolibrary.org/obo/MONDO_0013560	UMLS:C3888026|Orphanet:231537|UMLS:CN201510|https://omim.org/entry/614077|DOID:0060546	ordo_clinical_subtype
HGNC:14508	biolink:NamedThing	MRPS22			mondo.json		http://identifiers.org/hgnc/14508		
CL:0000047	biolink:Cell	neuronal stem cell	Neural stem cell is characterized as an undifferentiated cell that originates from the neuroectoderm and has the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors.	CALOHA:TS-2360|FMA:86684|BTO:0002881	mondo.json	NSC|neural stem cell	http://purl.obolibrary.org/obo/CL_0000047		
CL:0000048	biolink:Cell	multi fate stem cell	A stem cell that can give rise to multiple lineages of cells.	FMA:84789	mondo.json	multifate stem cell|multi-fate stem cell|multipotent stem cell|multipotent cell	http://purl.obolibrary.org/obo/CL_0000048		
CL:0000049	biolink:Cell	common myeloid progenitor	A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages.	BTO:0004730	mondo.json	myeloid stem cell|colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte|common myeloid precursor|CMP|CFU-GEMM|pluripotent stem cell (bone marrow)|CFU-S|multipotential myeloid stem cell	http://purl.obolibrary.org/obo/CL_0000049		
CL:0000040	biolink:Cell	monoblast	A myeloid progenitor cell committed to the monocyte lineage. This cell is CD11b-positive, has basophilic cytoplasm, euchromatin, and the presence of a nucleolus.	CALOHA:TS-1195|FMA:83553	mondo.json	CFU-M|colony forming unit macrophage|colony forming unit monocyte|monocyte stem cell	http://purl.obolibrary.org/obo/CL_0000040		
HGNC:26504	biolink:NamedThing	AGBL1			mondo.json		http://identifiers.org/hgnc/26504		
UBERON:4000170	biolink:AnatomicalEntity	median fin skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_4000170		
CL:0000055	biolink:Cell	non-terminally differentiated cell	A precursor cell with a limited number of potential fates.	BTO:0000125|FMA:84782	mondo.json	blast cell	http://purl.obolibrary.org/obo/CL_0000055		
CL:0000056	biolink:Cell	myoblast	A cell that is commited to differentiating into a muscle cell.  Embryonic myoblasts develop from the mesoderm. They undergo proliferation, migrate to their various sites, and then differentiate into the appropriate form of myocytes.  Myoblasts also occur as transient populations of cells in muscles undergoing repair.	FMA:70335|VHOG:0001529|BTO:0000222|FBbt:00005083|CALOHA:TS-0650	mondo.json		http://purl.obolibrary.org/obo/CL_0000056		
CL:0000057	biolink:Cell	fibroblast	A connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. Flattened and irregular in outline with branching processes; appear fusiform or spindle-shaped.	VHOG:0001482|CALOHA:TS-0362|FMA:63877|BTO:0000452	mondo.json		http://purl.obolibrary.org/obo/CL_0000057		
CL:0000058	biolink:Cell	chondroblast	Skeletogenic cell that is typically non-terminally differentiated, secretes an avascular, GAG rich matrix; is not buried in cartilage tissue matrix, retains the ability to divide, located adjacent to cartilage tissue (including within the perichondrium), and develops from prechondroblast (and thus prechondrogenic) cell.	BTO:0003607|FMA:66783	mondo.json	chrondoplast	http://purl.obolibrary.org/obo/CL_0000058		
CL:0000059	biolink:Cell	ameloblast	Skeletogenic cell that produces enamel, overlies the odontogenic papilla, and arises from the differentiation of a preameloblast cell.	FMA:70576|BTO:0001663	mondo.json	enamel secreting cell|amelocyte	http://purl.obolibrary.org/obo/CL_0000059		
CL:0000050	biolink:Cell	megakaryocyte-erythroid progenitor cell	A progenitor cell committed to the megakaryocyte and erythroid lineages.		mondo.json	colony forming unit erythroid megakaryocyte|MEP|megakaryocyte/erythrocyte progenitor|CFU-EM|megakaryocyte/erythroid progenitor cell|CFU-MegE|Meg/E progenitor	http://purl.obolibrary.org/obo/CL_0000050		
UBERON:4000167	biolink:AnatomicalEntity	caudal fin skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_4000167		
CL:0000051	biolink:Cell	common lymphoid progenitor	A oligopotent progenitor cell committed to the lymphoid lineage.		mondo.json	common lymphocyte precursor|lymphoid stem cell|CLP|ELP|early lymphocyte progenitor|lymphopoietic stem cell|common lymphoid precursor|common lymphocyte progenitor|committed lymphopoietic stem cell	http://purl.obolibrary.org/obo/CL_0000051		
CL:0000052	biolink:Cell	totipotent stem cell	A stem cell from which all cells of the body can form.	FMA:84790	mondo.json	totipotential stem cell	http://purl.obolibrary.org/obo/CL_0000052		
MONDO:0025598	biolink:Disease	pneumonia caused by chlamydia	An pneumonia caused by infection with Chlamydia.	MESH:D061387|UMLS:C0339959|ICD9:483.1|DOID:0040083|SCTID:233609002	mondo.json	Chlamydia pneumonia|chlamydial pneumonia|chlamydia pneumonia|Chlamydia caused pneumonia	http://purl.obolibrary.org/obo/MONDO_0025598	http://identifiers.org/snomedct/233609002|UMLS:C0339959|http://identifiers.org/mesh/D061387|DOID:0040083	
UBERON:4000164	biolink:AnatomicalEntity	caudal fin			mondo.json		http://purl.obolibrary.org/obo/UBERON_4000164		
FOODON:03430113	biolink:NamedThing	food physical quality	The physical state of the food product (liquid, semiliquid, semisolid, or solid). Solid food products are further subdivided by shape or form. Terms are provided for products that have both liquid and solid components or that incorporate air or other gases. [FDA CFSAN 1995]		mondo.json		http://purl.obolibrary.org/obo/FOODON_03430113		
UBERON:4000162	biolink:AnatomicalEntity	median fin			mondo.json		http://purl.obolibrary.org/obo/UBERON_4000162		
CL:0000029	biolink:Cell	neural crest derived neuron			mondo.json	neuron neural crest derived	http://purl.obolibrary.org/obo/CL_0000029		
CL:0000020	biolink:Cell	spermatogonium	An euploid male germ cell of an early stage of spermatogenesis.	BTO:0000958|FMA:72291|CALOHA:TS-2193|FBbt:00004935|EMAPA:31482	mondo.json	spermatogonial cell	http://purl.obolibrary.org/obo/CL_0000020		
CL:0000021	biolink:Cell	female germ cell	Female germ cell is a germ cell that supports female gamete production.	MA:0000388|VHOG:0001530|ncithesaurus:Egg	mondo.json		http://purl.obolibrary.org/obo/CL_0000021		
CL:0000022	biolink:Cell	female germ line stem cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000022		
CL:0000023	biolink:Cell	oocyte	A female germ cell that has entered meiosis.	FMA:18644|FBbt:00004886|BTO:0000964|CALOHA:TS-0711|WBbt:0006797	mondo.json	oogonium	http://purl.obolibrary.org/obo/CL_0000023		
CL:0000025	biolink:Cell	egg cell	A female gamete where meiosis has progressed to metaphase II and is able to participate in fertilization.	FMA:67343|MA:0000388|FBbt:00057012|BTO:0000369|BTO:0003801|CALOHA:TS-2191	mondo.json	ovum|mature oocyte	http://purl.obolibrary.org/obo/CL_0000025		
CL:0000027	biolink:Cell	smooth muscle cell neural crest derived	A smooth muscle cell derived from the neural crest.		mondo.json		http://purl.obolibrary.org/obo/CL_0000027		
CL:0002681	biolink:Cell	kidney cortical cell			mondo.json		http://purl.obolibrary.org/obo/CL_0002681		
CL:0002680	biolink:Cell	PP cell of intestine	A PP cell found in intestine.		mondo.json		http://purl.obolibrary.org/obo/CL_0002680		
CL:0000039	biolink:Cell	germ line cell	A cell that is within the developmental lineage of gametes and is able to pass along its genetic material to offspring.		mondo.json		http://purl.obolibrary.org/obo/CL_0000039		_upper_level
CL:0012001	biolink:Cell	neuron of the forebrain	A CNS neuron of the forebrain.		mondo.json	forebrain neuron	http://purl.obolibrary.org/obo/CL_0012001		
CL:0012000	biolink:Cell	astrocyte of the forebrain	An astrocyte of the forebrain.		mondo.json	forebrain astrocyte	http://purl.obolibrary.org/obo/CL_0012000		
CL:0000031	biolink:Cell	neuroblast (sensu Vertebrata)	A cell that will develop into a neuron often after a migration phase.	FMA:70563|BTO:0000930	mondo.json	neuroblast	http://purl.obolibrary.org/obo/CL_0000031		
CL:0000034	biolink:Cell	stem cell	A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells.	CALOHA:TS-2086|FMA:63368	mondo.json	animal stem cell	http://purl.obolibrary.org/obo/CL_0000034		
CL:0000035	biolink:Cell	single fate stem cell	A stem cell that self-renews as well as give rise to a single mature cell type.	FMA:70569	mondo.json	unipotent stem cell|unipotential stem cell	http://purl.obolibrary.org/obo/CL_0000035		
CL:0000036	biolink:Cell	epithelial fate stem cell			mondo.json	epithelial stem cell	http://purl.obolibrary.org/obo/CL_0000036		
NCBITaxon:372083	biolink:OrganismalEntity	Diphyllobothrium cordatum		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_372083		
CL:0000037	biolink:Cell	hematopoietic stem cell	A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4, CD5 ,CD8 alpha chain, CD11b, CD14, CD19, CD20, CD56, ly6G, ter119.	VHOG:0001485|FMA:70337|BTO:0000725|CALOHA:TS-0448|FMA:86475	mondo.json	blood forming stem cell|colony forming unit hematopoietic|hemopoietic stem cell|HSC	http://purl.obolibrary.org/obo/CL_0000037		
CL:0000038	biolink:Cell	erythroid progenitor cell	A progenitor cell committed to the erythroid lineage.	BTO:0004911	mondo.json	blast forming unit erythroid|colony forming unit erythroid|erythroid stem cell|burst forming unit erythroid|CFU-E|BFU-E	http://purl.obolibrary.org/obo/CL_0000038		
CL:0000030	biolink:Cell	glioblast		FBbt:00005145	mondo.json		http://purl.obolibrary.org/obo/CL_0000030		
MONDO:0001400	biolink:Disease	schwannoma of ureter	A benign nerve sheath tumor composed of Schwann cells, occurring in the ureter.	DOID:11888|NCIT:C6162|UMLS:C1336877	mondo.json	ureter neurilemmoma|ureteral schwannoma|ureter schwannoma|neurilemmoma of ureter|neurilemmoma of the ureter|schwannoma of the ureter|ureteral neurilemmoma	http://purl.obolibrary.org/obo/MONDO_0001400	NCIT:C6162|DOID:11888|UMLS:C1336877	
CHEBI:27638	biolink:ChemicalSubstance	cobalt atom	A cobalt group element atom that has atomic number 27.		mondo.json	cobalt|Cobalt|27Co|cobalto|Co|cobaltum|Kobalt|cobalt	http://purl.obolibrary.org/obo/CHEBI_27638		
MONDO:0001404	biolink:Disease	ecthyma	An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed)	ICD9:686.8|MESH:D004473|DOID:11907|EFO:1000689|UMLS:C0013568|SCTID:85791004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001404	UMLS:C0013568|http://identifiers.org/mesh/D004473|DOID:11907|http://identifiers.org/snomedct/85791004	
HP:0012862	biolink:PhenotypicFeature	Abnormal germ cell morphology	Any structural anomaly of a reproductive cell.	UMLS:C4022704	mondo.json	Abnormally shaped reproductive cell|Abnormally shaped germ cell|Abnormal shape of a reproductive cell	http://purl.obolibrary.org/obo/HP_0012862		
HP:0012863	biolink:PhenotypicFeature	Abnormal male germ cell morphology	A structural anomaly of a male reproductive cell.	UMLS:C4022703	mondo.json		http://purl.obolibrary.org/obo/HP_0012863		
MONDO:0001403	biolink:Disease	labium majus cancer	A malignant neoplasm involving the labium majora.	NCIT:C7638|UMLS:C0496814|SCTID:363446004|ICD9:184.1|DOID:11905	mondo.json	labium majora cancer|malignant tumor of the labia majora|malignant labium majora neoplasm|malignant neoplasm of labium majora|malignant labia majora neoplasm|malignant neoplasm of the labia majora|malignant labia majora tumor|malignant neoplasm of labia majora|cancer of labium majora|malignant tumor of labia majora	http://purl.obolibrary.org/obo/MONDO_0001403	NCIT:C7638|http://identifiers.org/snomedct/363446004|DOID:11905|UMLS:C0496814	
HP:0012864	biolink:PhenotypicFeature	Abnormal sperm morphology	A structural anomaly of sperm.	SNOMEDCT_US:236817003|UMLS:C0403824|MSH:D000072660	mondo.json	Teratospermia|Teratozoospermia|Abnormal shape of sperm	http://purl.obolibrary.org/obo/HP_0012864		
MONDO:0001402	biolink:Disease	vaginal cancer	A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas.	DOID:119|SCTID:363445000|MESH:D014625|GARD:0009348|ICD9:184.0|NCIT:C7410	mondo.json	malignant vagina tumor|malignant neoplasm of the vagina|malignant neoplasm of vagina|vagina neoplasm|malignant vaginal neoplasm|malignant vaginal tumor|malignant vagina neoplasm|malignant tumor of vagina|vagina cancer|malignant tumor of the vagina|cancer of vagina|vaginal tumor	http://purl.obolibrary.org/obo/MONDO_0001402	NCIT:C7410|http://identifiers.org/snomedct/363445000|http://identifiers.org/mesh/D014625|DOID:119	gard_rare
UBERON:0009030	biolink:AnatomicalEntity	left pulmonary vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009030		
MONDO:0001401	biolink:Disease	female breast nipple and areola cancer		DOID:11889|ICD9:174.0|UMLS:C0024621|SCTID:188147009	mondo.json	malignant neoplasm of nipple or areola of female breast|malignant neoplasm of nipple and areola of female breast	http://purl.obolibrary.org/obo/MONDO_0001401	UMLS:C0024621|DOID:11889|http://identifiers.org/snomedct/188147009	
HP:0012865	biolink:PhenotypicFeature	Abnormal sperm head morphology	A structural abnormality of the sperm head.	UMLS:C4022702	mondo.json	Sperm head anomaly	http://purl.obolibrary.org/obo/HP_0012865		
UBERON:0010020	biolink:AnatomicalEntity	tubotympanic recess epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010020		
UBERON:0010025	biolink:AnatomicalEntity	dorsal part of pharyngeal pouch 3			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010025		
UBERON:0010026	biolink:AnatomicalEntity	ventral part of pharyngeal pouch 3			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010026		
UBERON:0036654	biolink:AnatomicalEntity	wall of lateral ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036654		
UBERON:0036657	biolink:AnatomicalEntity	wall of fourth ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036657		
UBERON:0010023	biolink:AnatomicalEntity	dorsal part of pharyngeal pouch 2			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010023		
UBERON:0036656	biolink:AnatomicalEntity	wall of third ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036656		
HGNC:7566	biolink:NamedThing	MYF6			mondo.json		http://identifiers.org/hgnc/7566		
HGNC:7569	biolink:NamedThing	MYH11			mondo.json		http://identifiers.org/hgnc/7569		
HP:0000870	biolink:PhenotypicFeature	Increased circulating prolactin concentration	The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.	UMLS:C0020514|MSH:D006966|SNOMEDCT_US:237662005	mondo.json	Prolactin excess|Hyperprolactinemia|Hyperprolactinaemia	http://purl.obolibrary.org/obo/HP_0000870		
UBERON:0009032	biolink:AnatomicalEntity	right pulmonary vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009032		
UBERON:0009035	biolink:AnatomicalEntity	renal straight tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009035		
HGNC:7562	biolink:NamedThing	MYD88			mondo.json		http://identifiers.org/hgnc/7562		
MONDO:0001411	biolink:Disease	synostosis	A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue.	MESH:D013580|DOID:11971	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001411	DOID:11971|http://identifiers.org/mesh/D013580	
MONDO:0001410	biolink:Disease	postmenopausal atrophic vaginitis	Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at menopause.	UMLS:C0221392|EFO:1001271|ICD9:627.3|ICD10CM:N95.2|SCTID:52441000|UMLS:C0156409|DOID:11968|MESH:D059268	mondo.json	senile vaginitis|atrophic vaginitis	http://purl.obolibrary.org/obo/MONDO_0001410	http://identifiers.org/snomedct/52441000|UMLS:C0156409|UMLS:C0221392|http://identifiers.org/mesh/D059268|http://purl.bioontology.org/ontology/ICD10CM/N95.2|DOID:11968	
NCBITaxon:11079	biolink:OrganismalEntity	Murray Valley encephalitis virus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_11079		
MONDO:0001415	biolink:Disease	atrophy of testis	Loss of testicular volume.	ICD10CM:N50.0|DOID:11994|NCIT:C123259|UMLS:C0156312|ICD9:608.3|SCTID:17585008	mondo.json	testicular atrophy	http://purl.obolibrary.org/obo/MONDO_0001415	UMLS:C0156312|DOID:11994|http://identifiers.org/snomedct/17585008|NCIT:C123259|http://purl.bioontology.org/ontology/ICD10CM/N50.0	
MONDO:0001414	biolink:Disease	osteopoikilosis	A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones.	GARD:0004158|ICD9:756.53|SCTID:9147009|NCIT:C84985|DOID:11991|HP:0010739|MESH:D010023	mondo.json	osteopathia condensans disseminata|spotted bones|osteopoikilosis|osteopoikilosis (disease)	http://purl.obolibrary.org/obo/MONDO_0001414	http://identifiers.org/mesh/D010023|http://identifiers.org/snomedct/9147009|DOID:11991|NCIT:C84985	gard_rare
MONDO:0001413	biolink:Disease	ulceroglandular tularemia	A tularemia that results in painful regional lymphadenopathy and an ulcerated skin lesion.	SCTID:37722001|DOID:11990|UMLS:C0152941|ICD9:021.0|ICD10CM:A21.0	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001413	http://purl.bioontology.org/ontology/ICD10CM/A21.0|http://identifiers.org/snomedct/37722001|DOID:11990|UMLS:C0152941	
MONDO:0001412	biolink:Disease	conjunctival concretion		ICD9:372.54|SCTID:13706005|DOID:11988	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001412	http://identifiers.org/snomedct/13706005|DOID:11988	
UBERON:0009020	biolink:AnatomicalEntity	left uterine horn			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009020		
UBERON:0036661	biolink:AnatomicalEntity	wall of ventricular system of brain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036661		
UBERON:0010011	biolink:AnatomicalEntity	collection of basal ganglia			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010011		
NCBITaxon:2948570	biolink:OrganismalEntity	Poodinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2948570		
HGNC:7578	biolink:NamedThing	MYH8			mondo.json		http://identifiers.org/hgnc/7578		
UBERON:0036658	biolink:AnatomicalEntity	wall of central canal of spinal cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036658		
HGNC:7577	biolink:NamedThing	MYH7			mondo.json		http://identifiers.org/hgnc/7577		
HGNC:14604	biolink:NamedThing	AMN			mondo.json		http://identifiers.org/hgnc/14604		
UBERON:0010005	biolink:AnatomicalEntity	placental labyrinth villous			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010005		
HGNC:7579	biolink:NamedThing	MYH9			mondo.json		http://identifiers.org/hgnc/7579		
UBERON:0010009	biolink:AnatomicalEntity	aggregate regional part of brain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010009		
MONDO:0001408	biolink:Disease	ischemic neuropathy	Neuropathy that is caused by inadequate blood supply.	NCIT:C27025|DOID:1195|SCTID:129611009|ICD9:356.9|UMLS:C0238309	mondo.json	ischemic peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0001408	http://identifiers.org/snomedct/129611009|NCIT:C27025|DOID:1195|UMLS:C0238309	
MONDO:0001407	biolink:Disease	tracheal cancer	A malignant neoplasm involving the trachea	SCTID:363432004|NCIT:C9346|DOID:11920|ICD9:162.0|ICD10CM:C33|UMLS:C0153489	mondo.json	tracheal neoplasm|malignant tracheal tumor|malignant neoplasm of the trachea|Ca trachea|trachea cancer|malignant trachea tumor|malignant neoplasm of trachea|malignant tracheal neoplasm|malignant tumor of the trachea|malignant tumor of trachea|malignant trachea neoplasm|cancer of trachea	http://purl.obolibrary.org/obo/MONDO_0001407	NCIT:C9346|http://purl.bioontology.org/ontology/ICD10CM/C33|http://identifiers.org/snomedct/363432004|DOID:11920|UMLS:C0153489	
UBERON:0009022	biolink:AnatomicalEntity	right uterine horn			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009022		
NCBITaxon:11071	biolink:OrganismalEntity	Japanese encephalitis virus group		GC_ID:1	mondo.json	Japanese encephalitis viruses	http://purl.obolibrary.org/obo/NCBITaxon_11071		
NCBITaxon:11072	biolink:OrganismalEntity	Japanese encephalitis virus		GC_ID:1	mondo.json	Japanese encephalitis (JE) virus|Japanese encephalitis virus JE|Japanese encephalitis virus JEV	http://purl.obolibrary.org/obo/NCBITaxon_11072		
MONDO:0001406	biolink:Disease	peripheral nervous system neoplasm	A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths.	SCTID:126980002|NCIT:C3321|ONCOTREE:PNS|UMLS:C0031118|ICD9:239.2|DOID:1192|MESH:D010524	mondo.json	neoplasm of peripheral nerve|peripheral nervous system neoplasm|neoplasm of the PNS|neoplasms, PNS|CNS-excluded nervous sys. cancer|neoplasm of the peripheral nerve|neoplasm of PNS|peripheral nervous system neoplasm (disease)|peripheral nerve tumor|PNS tumor|tumor of PNS|tumor of peripheral nervous system|PNS neoplasm|neoplasm of the peripheral nervous system|PNS neoplasms|neoplasms, peripheral nervous system|peripheral nerve neoplasm|tumor of the PNS|tumor of peripheral nerve|tumor of the peripheral nerve|nerve sheath neoplasm|tumor of the peripheral nervous system|neoplasm of peripheral nervous system|peripheral nervous system tumor|nerve sheath tumors	http://purl.obolibrary.org/obo/MONDO_0001406	http://identifiers.org/snomedct/126980002|http://identifiers.org/mesh/D010524|DOID:1192|NCIT:C3321|UMLS:C0031118	
HGNC:7572	biolink:NamedThing	MYH2			mondo.json		http://identifiers.org/hgnc/7572		
MONDO:0001405	biolink:Disease	dermatophytosis of groin and perianal area	Dermatophytosis involving the stratum corneum of the skin of the groin and perianal area.	NCIT:C34535|ICD9:110.3|SCTID:399029005|UMLS:C0011638|DOID:11917	mondo.json	dermatophytosis of groin and perianal area|dermatophytosis of groin & perianal area|tinea cruris|Dhobie itch	http://purl.obolibrary.org/obo/MONDO_0001405	http://identifiers.org/snomedct/399029005|NCIT:C34535|UMLS:C0011638|DOID:11917	
HGNC:7573	biolink:NamedThing	MYH3			mondo.json		http://identifiers.org/hgnc/7573		
HGNC:7576	biolink:NamedThing	MYH6			mondo.json		http://identifiers.org/hgnc/7576		
UBERON:0009027	biolink:AnatomicalEntity	vesical artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009027		
MONDO:0001409	biolink:Disease	esophagitis	An acute or chronic inflammatory disease affecting the esophageal wall.	NCIT:C9224|UMLS:C0149882|SCTID:16761005|DOID:11963|ICD9:530.1|ICD9:530.12|UMLS:C0014868|ICD9:530.10|MESH:D004941|HP:0100633	mondo.json	esophagus inflammation|esophagitis|acute esophagitis|esophagitis (disease)|inflammation of esophagus	http://purl.obolibrary.org/obo/MONDO_0001409	NCIT:C9224|UMLS:C0014868|http://identifiers.org/snomedct/16761005|DOID:11963|UMLS:C0149882|http://identifiers.org/mesh/D004941	
NCBITaxon:11077	biolink:OrganismalEntity	Kunjin virus		GC_ID:1	mondo.json	West Nile virus - Kunjin	http://purl.obolibrary.org/obo/NCBITaxon_11077		
HP:0000855	biolink:PhenotypicFeature	Insulin resistance	Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.	MSH:D007333|SNOMEDCT_US:48606007|UMLS:C0021655	mondo.json	Body fails to respond to insulin	http://purl.obolibrary.org/obo/HP_0000855		
UBERON:0010000	biolink:AnatomicalEntity	multicellular anatomical structure	An anatomical structure that has more than one cell as a part.		mondo.json	multicellular structure	http://purl.obolibrary.org/obo/UBERON_0010000		
HP:0000859	biolink:PhenotypicFeature	Hyperaldosteronism	Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.	MSH:D006929|SNOMEDCT_US:88213004|UMLS:C0020428	mondo.json	Increased aldosterone|Mineralocorticoid excess|Elevated plasma aldosterone|Increased aldosterone production	http://purl.obolibrary.org/obo/HP_0000859		
HP:0000858	biolink:PhenotypicFeature	Irregular menstruation	Abnormally high variation in the amount of time between periods.	SNOMEDCT_US:80182007|UMLS:C0156404	mondo.json	Irregular menses|Irregular periods|Menstrual irregularities|Menstrual irregularity	http://purl.obolibrary.org/obo/HP_0000858		
UBERON:0010001	biolink:AnatomicalEntity	cell cluster organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010001		
HP:0000853	biolink:PhenotypicFeature	Goiter	An enlargement of the thyroid gland.	MSH:D006042|SNOMEDCT_US:3716002|UMLS:C0018021	mondo.json	Goitre|Enlarged thyroid gland in neck|Thyroid goiter|Thyroid goitre	http://purl.obolibrary.org/obo/HP_0000853		
UBERON:0009010	biolink:AnatomicalEntity	periurethral tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009010		
HGNC:7583	biolink:NamedThing	MYL2			mondo.json		http://identifiers.org/hgnc/7583		
NCBITaxon:11040	biolink:OrganismalEntity	Rubivirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_11040		
HGNC:7582	biolink:NamedThing	MYL1			mondo.json		http://identifiers.org/hgnc/7582		
UBERON:0009014	biolink:AnatomicalEntity	lower back skin			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009014		
NCBITaxon:11041	biolink:OrganismalEntity	Rubella virus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_11041		
HGNC:7585	biolink:NamedThing	MYL4			mondo.json		http://identifiers.org/hgnc/7585		
HGNC:7584	biolink:NamedThing	MYL3			mondo.json		http://identifiers.org/hgnc/7584		
UBERON:0009015	biolink:AnatomicalEntity	upper back skin			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009015		
HGNC:7590	biolink:NamedThing	MYLK			mondo.json		http://identifiers.org/hgnc/7590		
UBERON:0012651	biolink:AnatomicalEntity	mucosa of gastroduodenal junction			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012651		
UBERON:0012650	biolink:AnatomicalEntity	gastroduodenal junction			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012650		
UBERON:0012652	biolink:AnatomicalEntity	colorectum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012652		
HGNC:7599	biolink:NamedThing	MYO1E			mondo.json		http://identifiers.org/hgnc/7599		
HP:0000864	biolink:PhenotypicFeature	Abnormality of the hypothalamus-pituitary axis	Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.	UMLS:C4025819	mondo.json		http://purl.obolibrary.org/obo/HP_0000864		
HGNC:7594	biolink:NamedThing	MYO15A			mondo.json		http://identifiers.org/hgnc/7594		
NCBITaxon:11050	biolink:OrganismalEntity	Flaviviridae		GC_ID:1	mondo.json	Flavivirus (arbovirus group B)	http://purl.obolibrary.org/obo/NCBITaxon_11050		
NCBITaxon:11051	biolink:OrganismalEntity	Flavivirus		GC_ID:1	mondo.json	arboviruses group B	http://purl.obolibrary.org/obo/NCBITaxon_11051		
NCBITaxon:11052	biolink:OrganismalEntity	Dengue virus group		GC_ID:1	mondo.json	Dengue viruses	http://purl.obolibrary.org/obo/NCBITaxon_11052		
NCBITaxon:11053	biolink:OrganismalEntity	dengue virus type I		GC_ID:1	mondo.json	dengue type 1 D1 virus|Dengue virus 1|Dengue virus type 1|dengue virus type 1 DEN1|type 1 dengue virus DEN-1|dengue virus-1 DEN-1	http://purl.obolibrary.org/obo/NCBITaxon_11053		
HGNC:7595	biolink:NamedThing	MYO1A			mondo.json		http://identifiers.org/hgnc/7595		
MONDO:0001444	biolink:Disease	Chagas disease	A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias.	MedDRA:10001935|UMLS:C0153125|ICD10CM:B57|NCIT:C84629|DOID:12140|MESH:D014355|ICD9:086.2|KEGG:05142|EFO:0008559|SCTID:77506005|UMLS:C0041234|UMLS:C0348782|Orphanet:3386|UMLS:C0348781	mondo.json	Chagas disease|infection by trypanosoma cruzi|American trypanosomiasis|Chagas' disease with other organ involvement|Chagas-mazza disease|Trypanosoma cruzi infectious disease|Chagas' disease with nervous system involvement|Trypanosoma cruzi caused disease or disorder|Chagas' disease|Chagas' disease with digestive system involvement|south American trypanosomiasis|infection caused by trypanosoma cruzi|Trypanosoma cruzi disease or disorder	http://purl.obolibrary.org/obo/MONDO_0001444	UMLS:C0348781|UMLS:C0348782|UMLS:C0153125|NCIT:C84629|Orphanet:3386|http://identifiers.org/snomedct/77506005|http://identifiers.org/mesh/D014355|http://purl.bioontology.org/ontology/ICD10CM/B57|UMLS:C0041234|DOID:12140	ordo_disease
MONDO:0001443	biolink:Disease	tympanosclerosis	The formation of dense connective tissue in the tympanic membrane that does not necessarily cause or lead to loss of hearing.	ICD9:385.09|DOID:1214|MESH:D063371|ICD9:385.00|SCTID:23606001|ICD10CM:H74.0	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001443	http://identifiers.org/mesh/D063371|http://purl.bioontology.org/ontology/ICD10CM/H74.0|DOID:1214|http://identifiers.org/snomedct/23606001	
MONDO:0001442	biolink:Disease	dysthymic disorder	A chronic mood disorder in which the symptoms are similar to, though milder than, those diagnosed in depression.	SCTID:78667006|ICD9:300.4|NCIT:C34562|ICD10CM:F34.1|EFO:0008623|DOID:12139|MESH:D019263	mondo.json	dysthymia	http://purl.obolibrary.org/obo/MONDO_0001442	http://purl.bioontology.org/ontology/ICD10CM/F34.1|http://identifiers.org/snomedct/78667006|NCIT:C34562|http://identifiers.org/mesh/D019263|DOID:12139	
MONDO:0025412	biolink:Disease	feline panleukopenia	A highly contagious dna virus infection of the cat family, characterized by fever, enteritis and bone marrow changes. It is also called feline ataxia, feline agranulocytosis, feline infectious enteritis, cat fever, cat plague, and show fever. It is caused by feline panleukopenia virus or the closely related mink enteritis virus or canine parvovirus.	UMLS:C0015765|MESH:D005254	mondo.json	fevers, show|Feline agranulocytosis|plague, Cat|Feline ataxia|infectious enteritis, Feline|Panleukopenias, Feline|Cat plague|infectious Enteritides, Feline|distempers, Feline|ataxia, Feline|ataxias, Feline|agranulocytoses, Feline|Cat Plagues|enteritides, Feline infectious|distemper, Feline|fever, show|enteritis, Feline infectious|Panleukopenia, Feline|Feline Ataxias|Feline Agranulocytoses|agranulocytosis, Feline|Feline infectious enteritis|Feline infectious Enteritides|show fevers|Feline distemper|Feline Panleukopenias|plagues, Cat|Feline Distempers|show fever	http://purl.obolibrary.org/obo/MONDO_0025412	UMLS:C0015765|http://identifiers.org/mesh/D005254	
MONDO:0001441	biolink:Disease	pica disease	An eating disorder characterized by the persistent eating of nonnutritive substances such as clay or soil; this behavior must be inappropriate to the level of the individual's development.	NCIT:C92566|SCTID:14077003|ICD9:307.52|DOID:12128|MESH:D010842	mondo.json	Pica|Pica eating disorder	http://purl.obolibrary.org/obo/MONDO_0001441	http://identifiers.org/snomedct/14077003|NCIT:C92566|DOID:12128|http://identifiers.org/mesh/D010842	
UBERON:0010061	biolink:AnatomicalEntity	lumen of nasopharynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010061		
MONDO:0001448	biolink:Disease	obsolete alveolar echinococcosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001448		
MONDO:0001447	biolink:Disease	detrusor sphincter dyssynergia		HP:0025488|UMLS:C0341747|DOID:12145|SCTID:236655005|ICD9:596.55	mondo.json	detrusor sphincter dyssynergia|detrusor sphincter dyssynergia (disease)	http://purl.obolibrary.org/obo/MONDO_0001447	UMLS:C0341747|DOID:12145|http://identifiers.org/snomedct/236655005	
UBERON:0010062	biolink:AnatomicalEntity	pharyngotympanic tube epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010062		
MONDO:0025417	biolink:Disease	fowlpox	A poxvirus infection of poultry and other birds characterized by the formation of wart-like nodules on the skin and diphtheritic necrotic masses (cankers) in the upper digestive and respiratory tracts.	MESH:D005586	mondo.json	Bird pox|epithelioma contagiosum|Birdpox|Diphtherias, fowl|Variola avium|fowl Diphtherias|pox, fowl|fowl diphtheria|diphtheria, fowl|fowl pox|pox, Bird	http://purl.obolibrary.org/obo/MONDO_0025417	http://identifiers.org/mesh/D005586	
MONDO:0001446	biolink:Disease	low compliance bladder		DOID:12144|UMLS:C0489967|ICD9:596.52|SCTID:9009001	mondo.json	hyperactivity of bladder|low bladder compliance|hypertonicity of bladder|hypertonic bladder	http://purl.obolibrary.org/obo/MONDO_0001446	http://identifiers.org/snomedct/9009001|UMLS:C0489967|DOID:12144	
MONDO:0001445	biolink:Disease	obsolete neurogenic bladder	OBSOLETE. Malfunctioning urinary bladder due to central nervous system disorders or damage to the peripheral nerves that are involved in the control of urination. Causes include spinal cord injuries, neural tube defects, brain tumors, strokes, and peripheral neuropathies (e.g., AIDS neuropathy and diabetic neuropathy).	HP:0000011|DOID:12143|SCTID:398064005|MESH:D001750|UMLS:C0005697|ICD9:596.54	mondo.json	neuropathic bladder|neurogenic dysfunction of the urinary bladder|obsolete neurogenic bladder (disease)|neurogenic urinary bladder disorder|neurogenic bladder	http://purl.obolibrary.org/obo/MONDO_0001445	UMLS:C0005697|http://identifiers.org/snomedct/398064005|http://identifiers.org/mesh/D001750|DOID:12143	
UBERON:0010060	biolink:AnatomicalEntity	pharyngeal opening of pharyngotympanic tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010060		
UBERON:0010065	biolink:AnatomicalEntity	auditory meatus epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010065		
MONDO:0013428	biolink:Disease	Meier-Gorlin syndrome 2	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene.	UMLS:C3151097|DOID:0080513|OMIM:613800	mondo.json	ORC4 Meier-Gorlin syndrome|MGORS2|Meier-GORLIN syndrome 2|Meier-Gorlin syndrome 2|Meier-Gorlin syndrome caused by mutation in ORC4|Meier-Gorlin syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0013428	https://omim.org/entry/613800|UMLS:C3151097|DOID:0080513	
UBERON:0010063	biolink:AnatomicalEntity	tympanic cavity epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010063		
MONDO:0013429	biolink:Disease	retinitis pigmentosa 40	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene.	DOID:0110375|ICD10CM:H35.5|UMLS:C3151107|OMIM:613801	mondo.json	RP40|retinitis pigmentosa caused by mutation in PDE6B|retinitis pigmentosa 40|retinitis pigmentosa type 40|PDE6B retinitis pigmentosa|retinitis pigmentosa-40	http://purl.obolibrary.org/obo/MONDO_0013429	DOID:0110375|https://omim.org/entry/613801|UMLS:C3151107	
UBERON:0010064	biolink:AnatomicalEntity	open anatomical space			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010064		
MONDO:0001440	biolink:Disease	neurotrophic keratoconjunctivitis		SCTID:77080005|UMLS:C0155084|ICD9:370.35|DOID:12125	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001440	http://identifiers.org/snomedct/77080005|DOID:12125|UMLS:C0155084	
UBERON:0010069	biolink:AnatomicalEntity	outer epithelial layer of tympanic membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010069		
NCIT:C17214	biolink:NamedThing	Disease Transmission			mondo.json		http://purl.obolibrary.org/obo/NCIT_C17214		http://purl.obolibrary.org/obo/NCIT_C128453|http://purl.obolibrary.org/obo/NCIT_C90259
MONDO:0013433	biolink:Disease	primary sclerosing cholangitis	Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.	GARD:0001280|Orphanet:171|MedDRA:10036732|DOID:0060643|SCTID:197441003|OMIM:613806|UMLS:C0566602	mondo.json	PSC|cholangitis, primary sclerosing	http://purl.obolibrary.org/obo/MONDO_0013433	https://omim.org/entry/613806|http://identifiers.org/snomedct/197441003|Orphanet:171|UMLS:C0566602|DOID:0060643	ordo_disease
MONDO:0013434	biolink:Disease	primary ciliary dyskinesia 14	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene.	OMIM:613807|UMLS:C3151136|DOID:0110598	mondo.json	CCDC39 primary ciliary dyskinesia|ciliary dyskinesia, primary, 14, with or without situs inversus|primary ciliary dyskinesia 14 with or without situs inversus|primary ciliary dyskinesia 14|ciliary dyskinesia, primary, type 14|primary ciliary dyskinesia caused by mutation in CCDC39|CILD14|primary ciliary dyskinesia type 14|ciliary dyskinesia, primary, 14	http://purl.obolibrary.org/obo/MONDO_0013434	https://omim.org/entry/613807|UMLS:C3151136|DOID:0110598	
MONDO:0013431	biolink:Disease	Meier-Gorlin syndrome 4	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene.	DOID:0080515|OMIM:613804|UMLS:C3151120	mondo.json	CDT1 Meier-Gorlin syndrome|Meier-GORLIN syndrome 4|Meier-Gorlin syndrome 4|Meier-Gorlin syndrome type 4|MGORS4|Meier-Gorlin syndrome caused by mutation in CDT1	http://purl.obolibrary.org/obo/MONDO_0013431	https://omim.org/entry/613804|UMLS:C3151120|DOID:0080515	
MONDO:0013432	biolink:Disease	Meier-Gorlin syndrome 5	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene.	DOID:0080516|OMIM:613805|UMLS:C3151126	mondo.json	Meier-Gorlin syndrome caused by mutation in CDC6|Meier-GORLIN syndrome 5|Meier-Gorlin syndrome 5|MGORS5|Meier-Gorlin syndrome type 5|CDC6 Meier-Gorlin syndrome	http://purl.obolibrary.org/obo/MONDO_0013432	https://omim.org/entry/613805|DOID:0080516|UMLS:C3151126	
MONDO:0013437	biolink:Disease	retinitis pigmentosa 43	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene.	ICD10CM:H35.5|UMLS:C3151139|OMIM:613810|DOID:0110379	mondo.json	retinitis pigmentosa caused by mutation in PDE6A|PDE6A retinitis pigmentosa|retinitis pigmentosa type 43|RP43|retinitis pigmentosa 43	http://purl.obolibrary.org/obo/MONDO_0013437	https://omim.org/entry/613810|UMLS:C3151139|DOID:0110379	
MONDO:0013438	biolink:Disease	pontocerebellar hypoplasia type 2D	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS gene.	UMLS:C3151140|DOID:0060270|OMIM:613811	mondo.json	pontocerebellar hypoplasia type 2D|cerebello-cerebral atrophy, progressive|Cerebellocerebral atrophy, progressive|SEPSECS non-syndromic pontocerebellar hypoplasia|PCH2D|pontocerebellar hypoplasia, type 2D|non-syndromic pontocerebellar hypoplasia caused by mutation in SEPSECS	http://purl.obolibrary.org/obo/MONDO_0013438	https://omim.org/entry/613811|UMLS:C3151140|DOID:0060270	
MONDO:0013435	biolink:Disease	primary ciliary dyskinesia 15	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene.	DOID:0110623|OMIM:613808|UMLS:C3151137	mondo.json	ciliary dyskinesia, primary, 15, with or without situs inversus|primary ciliary dyskinesia 15|CCDC40 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 15|primary ciliary dyskinesia caused by mutation in CCDC40|CILD15|primary ciliary dyskinesia type 15|primary ciliary dyskinesia 15 with or without situs inversus|ciliary dyskinesia, primary, 15	http://purl.obolibrary.org/obo/MONDO_0013435	https://omim.org/entry/613808|UMLS:C3151137|DOID:0110623	
MONDO:0013436	biolink:Disease	retinitis pigmentosa 39	Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene.	UMLS:C3151138|OMIM:613809|DOID:0110360|ICD10CM:H35.5	mondo.json	USH2A retinitis pigmentosa|retinitis pigmentosa caused by mutation in USH2A|retinitis pigmentosa type 39|RP39|retinitis pigmentosa 39	http://purl.obolibrary.org/obo/MONDO_0013436	https://omim.org/entry/613809|UMLS:C3151138|DOID:0110360	
MONDO:0001439	biolink:Disease	episcleritis periodica fugax		UMLS:C0155351|DOID:12124|ICD9:379.01|SCTID:31166000	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001439	DOID:12124|UMLS:C0155351|http://identifiers.org/snomedct/31166000	
GO:1990837	biolink:NamedThing	sequence-specific double-stranded DNA binding	Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.		mondo.json	sequence-specific dsDNA binding	http://purl.obolibrary.org/obo/GO_1990837		
MONDO:0001438	biolink:Disease	postinflammatory pulmonary fibrosis		ICD9:515|SCTID:266368002|UMLS:C0175999|DOID:12123	mondo.json	post-inflammatory pulmonary fibrosis|postinflammatory pulmonary fibrosis	http://purl.obolibrary.org/obo/MONDO_0001438	DOID:12123|http://identifiers.org/snomedct/266368002|UMLS:C0175999	
MONDO:0013430	biolink:Disease	Meier-Gorlin syndrome 3	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene.	DOID:0080514|OMIM:613803|UMLS:C3151113	mondo.json	Meier-Gorlin syndrome caused by mutation in ORC6|Meier-GORLIN syndrome 3|Meier-Gorlin syndrome 3|ORC6 Meier-Gorlin syndrome|Meier-Gorlin syndrome type 3|MGORS3	http://purl.obolibrary.org/obo/MONDO_0013430	https://omim.org/entry/613803|DOID:0080514|UMLS:C3151113	
MONDO:0001455	biolink:Disease	retinal lattice degeneration		SCTID:3577000|UMLS:C0154856|ICD9:362.63|DOID:12165	mondo.json	palisade degeneration of retina	http://purl.obolibrary.org/obo/MONDO_0001455	UMLS:C0154856|DOID:12165|http://identifiers.org/snomedct/3577000	
MONDO:0001454	biolink:Disease	Blessig's cysts		ICD9:362.62|DOID:12164|UMLS:C0154855|SCTID:37075008	mondo.json	Microcystoid degeneration of retina|Iwanoff's cysts|Microcystoid retinal degeneration|Blessig cysts	http://purl.obolibrary.org/obo/MONDO_0001454	UMLS:C0154855|http://identifiers.org/snomedct/37075008|DOID:12164	
MONDO:0001453	biolink:Disease	senile reticular retinal degeneration		UMLS:C0154857|DOID:12163|ICD9:362.64|SCTID:54184008	mondo.json	Senile reticular degeneration of retina	http://purl.obolibrary.org/obo/MONDO_0001453	UMLS:C0154857|http://identifiers.org/snomedct/54184008|DOID:12163	
MONDO:0001452	biolink:Disease	pseudoretinitis pigmentosa		UMLS:C0154858|ICD9:362.65|DOID:12162|SCTID:193396007|UMLS:C2053820	mondo.json	secondary pigmentary retinal degeneration|secondary pigmentary degeneration of retina	http://purl.obolibrary.org/obo/MONDO_0001452	http://identifiers.org/snomedct/193396007|DOID:12162|UMLS:C2053820|UMLS:C0154858	
MONDO:0025404	biolink:Disease	coronaviral enteritis of turkeys	An acute, highly contagious virus disease of turkeys characterized by chilling, anorexia, decreased water intake, diarrhea, dehydration and weight loss. The infectious agent is a coronavirus.	MESH:D004753|UMLS:C0014342	mondo.json	Bluecomb of turkeys|coronaviral enteritis of turkeys|transmissible enteritis of turkeys|enteritis, transmissible, of turkeys	http://purl.obolibrary.org/obo/MONDO_0025404	http://identifiers.org/mesh/D004753|UMLS:C0014342	
MONDO:0001459	biolink:Disease	radial neuropathy	Disease involving the radial nerve. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the axilla and radial groove of the humerus.	UMLS:C0748226|MESH:D020425|DOID:12171|SCTID:16644004	mondo.json	radial nerve peripheral neuropathy|peripheral neuropathy of radial nerve	http://purl.obolibrary.org/obo/MONDO_0001459	http://identifiers.org/mesh/D020425|http://identifiers.org/snomedct/16644004|UMLS:C0748226|DOID:12171	
MONDO:0001458	biolink:Disease	ulnar nerve lesion	A peripheral nerve lesion that involves the ulnar nerve.	DOID:12168|SCTID:367475009|ICD9:354.2|UMLS:C1288279	mondo.json	ulnar nerve peripheral nerve lesion|peripheral nerve lesion of ulnar nerve|lesion of ulnar nerve	http://purl.obolibrary.org/obo/MONDO_0001458	http://identifiers.org/snomedct/367475009|UMLS:C1288279|DOID:12168	
MONDO:0001457	biolink:Disease	secondary vitreoretinal degeneration		SCTID:60676002|DOID:12167|ICD9:362.66|UMLS:C0154859	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001457	UMLS:C0154859|DOID:12167|http://identifiers.org/snomedct/60676002	
MONDO:0001456	biolink:Disease	cobblestone retinal degeneration		DOID:12166|UMLS:C0154854|SCTID:69134001|ICD9:362.61	mondo.json	paving stone degeneration of retina|paving stone retinal degeneration	http://purl.obolibrary.org/obo/MONDO_0001456	UMLS:C0154854|http://identifiers.org/snomedct/69134001|DOID:12166	
MONDO:0013419	biolink:Disease	complement component C1s deficiency	A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.	OMIM:613783|MESH:C565170|UMLS:C3151078	mondo.json	C1s deficiency|complement component C1s deficiency|C1SD	http://purl.obolibrary.org/obo/MONDO_0013419	https://omim.org/entry/613783|UMLS:C3151078|http://identifiers.org/mesh/C565170	
MONDO:0013417	biolink:Disease	complement component 3 deficiency	A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease.	OMIM:613779|UMLS:C3151071|NCIT:C9468|UMLS:C1332655|DOID:8354|Orphanet:280133|MESH:C565169	mondo.json	C3 deficiency|complement component 3 deficiency, autosomal recessive|C3 deficiency, autosomal recessive|classic complement early component deficiency caused by mutation in C3|C3d|C3 classic complement early component deficiency	http://purl.obolibrary.org/obo/MONDO_0013417	Orphanet:280133|https://omim.org/entry/613779|DOID:8354|UMLS:C3151071|NCIT:C9468|UMLS:C1332655|http://identifiers.org/mesh/C565169	ordo_disease
UBERON:0010052	biolink:AnatomicalEntity	mucosa of dorsum of tongue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010052		
MONDO:0013418	biolink:Disease	aortic aneurysm, familial thoracic 7		OMIM:613780|UMLS:C3151077	mondo.json	aortic aneurysm, familial thoracic type 7|AAT7|aortic dissection, familial, with or without aortic aneurysm|aortic aneurysm, familial thoracic 7	http://purl.obolibrary.org/obo/MONDO_0013418	https://omim.org/entry/613780|UMLS:C3151077	
MONDO:0001451	biolink:Disease	peripheral retinal degeneration	Degeneration of the peripheral retina.	DOID:12161|ICD9:362.60|SCTID:405721006|UMLS:C1320640|ICD10CM:H35.4|ICD9:362.6|NCIT:C34919	mondo.json	peripheral degeneration of retina|peripheral retinal Degeneration	http://purl.obolibrary.org/obo/MONDO_0001451	UMLS:C1320640|NCIT:C34919|DOID:12161|http://purl.bioontology.org/ontology/ICD10CM/H35.4|http://identifiers.org/snomedct/405721006	
MONDO:0001450	biolink:Disease	obsolete arachnoiditis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001450		
UBERON:0010059	biolink:AnatomicalEntity	hypoglossal cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010059		
UBERON:0010056	biolink:AnatomicalEntity	future tongue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010056		
MONDO:0013422	biolink:Disease	type I complement component 8 deficiency	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene.	HGNC:1352|GARD:0010626|DOID:0060301|UMLS:C3151081|OMIM:613790	mondo.json	classic complement early component deficiency caused by mutation in C8A|complement component 8 deficiency type I|C8 deficiency, type 1|C8D1|C8 deficiency, type I|C8 deficiency type I|complement component 8 deficiency, type I|C8A classic complement early component deficiency|C81 deficiency|C8Ag deficiency|complement component 8 deficiency type 1|complement component 8 deficiency, type 1|C8 Alpha-gamma deficiency	http://purl.obolibrary.org/obo/MONDO_0013422	https://omim.org/entry/613790|UMLS:C3151081|DOID:0060301	gard_rare
ENVO:03000033	biolink:NamedThing	marine sediment	Sediment which has been transported through the marine water column, settling on the seafloor.		mondo.json	marine sediments	http://purl.obolibrary.org/obo/ENVO_03000033		
MONDO:0013423	biolink:Disease	immunodeficiency due to MASP-2 deficiency	Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.	OMIM:613791|MESH:C565360|UMLS:C3151085|Orphanet:331187	mondo.json	MASP2 deficiency|lectin complement activation pathway, defect in, 2|immunodeficiency due to MASP-2 deficiency	http://purl.obolibrary.org/obo/MONDO_0013423	https://omim.org/entry/613791|UMLS:C3151085|http://identifiers.org/mesh/C565360|Orphanet:331187	ordo_disease
MONDO:0013420	biolink:Disease	age related macular degeneration 12	Any age-related macular degeneration in which the cause of the disease is a mutation in the CX3CR1 gene.	DOID:0110024|UMLS:C3151079|OMIM:613784	mondo.json	age-related macular degeneration caused by mutation in CX3CR1|ARMD12|macular degeneration, age-related, 12|macular Degeneration, age-related, type 12|CX3CR1 age-related macular degeneration|age related macular degeneration type 12	http://purl.obolibrary.org/obo/MONDO_0013420	https://omim.org/entry/613784|UMLS:C3151079|DOID:0110024	
ENVO:03000036	biolink:NamedThing	sedimentation in a water body	A material accumulation process during which solid particles are pulled through a water body by gravitation or centrifugal force and which ends when they settle on a solid surface.		mondo.json		http://purl.obolibrary.org/obo/ENVO_03000036		
MONDO:0013421	biolink:Disease	type II complement component 8 deficiency	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene.	OMIM:613789|GARD:0010625|UMLS:C3151080|DOID:0060302|HGNC:1353	mondo.json	classic complement early component deficiency caused by mutation in C8B|Human complement C8-beta deficiency|C8 deficiency, type 2|complement component 8B deficiency|complement component 8 deficiency type II|complement component 8 deficiency, type II|C8 Beta deficiency|complement component 8 deficiency, type 2|C8B deficiency|C8B classic complement early component deficiency|complement component 8 deficiency type 2|C8 deficiency, type II|C8D2|C8 deficiency type II	http://purl.obolibrary.org/obo/MONDO_0013421	https://omim.org/entry/613789|UMLS:C3151080|DOID:0060302	gard_rare
MONDO:0013426	biolink:Disease	aneurysm-osteoarthritis syndrome		GARD:0010997|DOID:0070237|Orphanet:284984|UMLS:C3151087|OMIM:613795	mondo.json	aneurysms-osteoarthritis syndrome|aneurysm-osteoarthritis syndrome|Loeys-Dietz syndrome with osteoarthritis|aneurysm - osteoarthritis syndrome|Loeys-Dietz syndrome, type 1C, formerly|Loeys-Dietz syndrome, type 1C|Loeys-Dietz syndrome 3|Loeys-Dietz syndrome type 3|Loeys-Dietz syndrome, type 3|Loeys-Dietz syndrome, type 1C (formerly)|LDS3	http://purl.obolibrary.org/obo/MONDO_0013426	DOID:0070237|https://omim.org/entry/613795|UMLS:C3151087|Orphanet:284984	clingen|ordo_disease
MONDO:0013427	biolink:Disease	immunodeficiency 31B		UMLS:C3151088|Orphanet:391311|OMIM:613796	mondo.json	susceptibility to viral and mycobacterial infections|immunodeficiency type 31B|Stat1 deficiency, autosomal recessive|IMD31B|immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive|STAT1 deficiency|immunodeficiency 31B	http://purl.obolibrary.org/obo/MONDO_0013427	https://omim.org/entry/613796|UMLS:C3151088|Orphanet:391311	ordo_disease
MONDO:0013424	biolink:Disease	3p- syndrome	Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.	GARD:0003750|Orphanet:1620|SCTID:763528002|DOID:0060417|MESH:C536804|OMIM:613792|GARD:0000037|NCIT:C41377	mondo.json	monosomy 3pter|partial monosomy 3p|distal monosomy 3p|monosomy 3p|3p deletion|deletion 3p|3p- syndrome|3p monosomy|chromosome 3p- syndrome|chromosome 3, monosomy 3p25|del(3p25)|chromosome 3p deletion|distal monosomy type 3p|Del(3p) syndrome|distal 3p deletion|deletion 3p25|telomeric monosomy 3p|chromosome 3pter-p25 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013424	DOID:0060417|https://omim.org/entry/613792|Orphanet:1620|http://identifiers.org/snomedct/763528002|http://identifiers.org/mesh/C536804	ordo_malformation_syndrome|gard_rare
MONDO:0013425	biolink:Disease	retinitis pigmentosa 20	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene.	MESH:C566718|OMIM:613794|DOID:0110353|ICD10CM:H35.5|GARD:0010404|UMLS:C3151086|HGNC:10294	mondo.json	RP20|retinitis pigmentosa caused by mutation in RPE65|RP 20|retinitis pigmentosa 20|retinitis pigmentosa type 20|RPE65 retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0013425	https://omim.org/entry/613794|UMLS:C3151086|http://identifiers.org/mesh/C566718|DOID:0110353	gard_rare
MONDO:0001449	biolink:Disease	lymphocytic choriomeningitis	A form of meningitis caused by lymphocytic choriomeningitis virus. mice and other rodents serve as the natural hosts, and infection in humans usually occurs through inhalation or ingestion of infectious particles. Clinical manifestations include an influenza-like syndrome followed by stiff neck, alterations of mentation, ataxia, and incontinence. Maternal infections may result in fetal malformations and injury, including neonatal hydrocephalus, aqueductal stenosis, chorioretinitis, and microcephaly. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)	MESH:D008216|DOID:12155|ICD10CM:A87.2|ICD9:049.0|UMLS:C0024266	mondo.json	LCM|lymphocytic choriomeningitis virus encephalomyelitis|lymphocytic choriomeningitis mammarenavirus caused infectious meningitis|lymphocytic meningitis|lymphocytic choriomeningitis mammarenavirus infectious meningitis|lymphocytic meningoencephalitis	http://purl.obolibrary.org/obo/MONDO_0001449	http://purl.bioontology.org/ontology/ICD10CM/A87.2|http://identifiers.org/mesh/D008216|UMLS:C0024266|DOID:12155	
NCBITaxon:11089	biolink:OrganismalEntity	Yellow fever virus		GC_ID:1	mondo.json	Flavivirus febricis|YFV|yellow fever virus YFV	http://purl.obolibrary.org/obo/NCBITaxon_11089		
MONDO:0001422	biolink:Disease	primary aldosteronism	An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache.	DOID:12028|NCIT:C34510|SCTID:190507007|MESH:D006929|ICD9:255.12|ICD10CM:E26.0	mondo.json	Conn's syndrome|Conn syndrome|primary aldosteronism|primary hyperaldosteronism	http://purl.obolibrary.org/obo/MONDO_0001422	http://purl.bioontology.org/ontology/ICD10CM/E26.0|http://identifiers.org/snomedct/190507007|NCIT:C34510|DOID:12028	
NCBITaxon:3744	biolink:OrganismalEntity	Rosales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_3744		
MONDO:0001421	biolink:Disease	frontal lobe neoplasm	A neoplasm involving a frontal lobe.	UMLS:C1263886|DOID:12016|ICD9:191.1|SCTID:126954003|NCIT:C5572	mondo.json	malignant neoplasm of frontal lobe|tumor of the frontal lobe|neoplasm of frontal lobe|frontal lobe tumor|neoplasm of the frontal lobe|tumor of frontal lobe|frontal lobe neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0001421	UMLS:C1263886|NCIT:C5572|http://identifiers.org/snomedct/126954003|DOID:12016	
MONDO:0001420	biolink:Disease	trigeminal nerve neoplasm	Benign and malignant neoplasms which arise from or metastasize to the trigeminal or fifth cranial nerve which provides sensory innervation to the face, oral cavity and sinuses and the muscles of mastication. Clinical features may include facial pain or sensory loss or weakness of jaw closure.	ICD9:239.7|SCTID:126971002|UMLS:C1263897|NCIT:C5122|DOID:1201	mondo.json	fifth cranial nerve neoplasm|neoplasm of the trigeminal nerve|cranial nerve V tumors|neoplasm of the fifth cranial nerve|trigeminal nerve neoplasms|neoplasm of fifth cranial nerve|trigeminal nerve neoplasm|fifth cranial nerve tumor|neoplasm of trigeminal nerve|neoplasms, cranial nerve V|trigeminal nerve tumor|tumor of trigeminal nerve|trigeminal nerve tumors|trigeminal nerve neoplasm (disease)|tumor of the trigeminal nerve|cranial nerve V neoplasms|tumor of the fifth cranial nerve|tumor of fifth cranial nerve|tumors, cranial nerve V	http://purl.obolibrary.org/obo/MONDO_0001420	NCIT:C5122|DOID:1201|UMLS:C1263897|http://identifiers.org/snomedct/126971002	
NCBITaxon:3745	biolink:OrganismalEntity	Rosaceae		GC_ID:1	mondo.json	Malaceae|rose family	http://purl.obolibrary.org/obo/NCBITaxon_3745		
MONDO:0001426	biolink:Disease	mediastinum neurofibroma	A neurofibroma that arises from the posterior mediastinum. Excision is usually curative.	NCIT:C6631|UMLS:C1334674|DOID:12064	mondo.json	mediastinal neurofibroma|mediastinum neurofibroma|neurofibroma of mediastinum|neurofibroma of the mediastinum	http://purl.obolibrary.org/obo/MONDO_0001426	DOID:12064|NCIT:C6631|UMLS:C1334674	
MONDO:0001425	biolink:Disease	obsolete Rett syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001425		
MONDO:0001424	biolink:Disease	obsolete sarcoid meningitis	OBSOLETE. Meningitis that arises from sarcoidosis.	ICD9:321.4|SCTID:192673008|UMLS:C0154648|DOID:12055|ICD10CM:D86.81	mondo.json	meningitis in sarcoidosis	http://purl.obolibrary.org/obo/MONDO_0001424	DOID:12055|http://purl.bioontology.org/ontology/ICD10CM/D86.81|UMLS:C0154648|http://identifiers.org/snomedct/192673008	
MONDO:0001423	biolink:Disease	drug-induced mental disorder		ICD9:292.89|ICD9:292.8|DOID:1203	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001423	DOID:1203	
MONDO:0013408	biolink:Disease	FADD-related immunodeficiency	A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.	UMLS:C4509831|Orphanet:306550|SCTID:723334006|UMLS:C3151062|OMIM:613759	mondo.json	Fadd deficiency|FADD-related immunodeficiency|infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations|immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction	http://purl.obolibrary.org/obo/MONDO_0013408	http://identifiers.org/snomedct/723334006|UMLS:C4509831|https://omim.org/entry/613759|Orphanet:306550|UMLS:C3151062	ordo_disease
MONDO:0013409	biolink:Disease	age related macular degeneration 5	Any age-related macular degeneration in which the cause of the disease is a mutation in the ERCC6 gene.	UMLS:C3151063|OMIM:613761|DOID:0110028	mondo.json	macular degeneration, age-related, 5|ARMD5|macular Degeneration, age-related, type 5|age related macular degeneration type 5|ERCC6 age-related macular degeneration|age-related macular degeneration caused by mutation in ERCC6|macular degeneration, age-related, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0013409	DOID:0110028|https://omim.org/entry/613761|UMLS:C3151063	
MONDO:0013406	biolink:Disease	age related macular degeneration 6	Any age-related macular degeneration in which the cause of the disease is a mutation in the RAX2 gene.	DOID:0110018|UMLS:C3151060|OMIM:613757|MESH:C563674	mondo.json	age related macular degeneration type 6|age-related macular degeneration caused by mutation in RAX2|macular degeneration, age-related, 6|RAX2 age-related macular degeneration|ARMD6|macular Degeneration, age-related, type 6	http://purl.obolibrary.org/obo/MONDO_0013406	DOID:0110018|http://identifiers.org/mesh/C563674|https://omim.org/entry/613757|UMLS:C3151060	
MONDO:0013407	biolink:Disease	retinitis pigmentosa 47	Any retinitis pigmentosa in which the cause of the disease is a mutation in the SAG gene.	DOID:0110369|ICD10CM:H35.5|OMIM:613758|UMLS:C3151061	mondo.json	retinitis pigmentosa 47|RP47|SAG retinitis pigmentosa|retinitis pigmentosa type 47|retinitis pigmentosa caused by mutation in SAG	http://purl.obolibrary.org/obo/MONDO_0013407	DOID:0110369|https://omim.org/entry/613758|UMLS:C3151061	
UBERON:0010042	biolink:AnatomicalEntity	1st arch mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010042		
UBERON:0010047	biolink:AnatomicalEntity	oral gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010047		
ENVO:03000043	biolink:NamedThing	material transformation process	A process during which a portion of some environmental material is converted into a different material or a collection of materials.		mondo.json		http://purl.obolibrary.org/obo/ENVO_03000043		
UBERON:0010045	biolink:AnatomicalEntity	1st arch maxillary mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010045		
NCBITaxon:3749	biolink:OrganismalEntity	Malus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_3749		
UBERON:0010046	biolink:AnatomicalEntity	entire pharyngeal arch associated mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010046		
MONDO:0013411	biolink:Disease	cataract 16 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene.	OMIM:613763|DOID:0110250|MESH:C565134	mondo.json	cataract 16, multiple types|cataract, posterior polar, 2|CTPP2|early-onset non-syndromic cataract caused by mutation in CRYAB|CRYAB early-onset non-syndromic cataract|cataract, congenital lamellar|CTRCT16|posterior polar cataract 2	http://purl.obolibrary.org/obo/MONDO_0013411	https://omim.org/entry/613763|http://identifiers.org/mesh/C565134|DOID:0110250	
MONDO:0013412	biolink:Disease	hypertrophic cardiomyopathy 9	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TTN gene.	MESH:C566044|UMLS:C1861065|OMIM:613765|DOID:0110315	mondo.json	TTN hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 9|hypertrophic cardiomyopathy type 9|hypertrophic cardiomyopathy caused by mutation in TTN|cardiomyopathy, familial hypertrophic, type 9|CMH9	http://purl.obolibrary.org/obo/MONDO_0013412	https://omim.org/entry/613765|UMLS:C1861065|http://identifiers.org/mesh/C566044|DOID:0110315	
UBERON:0010038	biolink:AnatomicalEntity	fundic gastric gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010038		
MONDO:0013410	biolink:Disease	46,XY sex reversal 6		UMLS:C3151064|DOID:0111769|OMIM:613762	mondo.json	SRXY6|46XY sex reversal 6|46,XY Sex reversal type 6|46,XY gonadal dysgenesis, partial or complete, Map3K1-related|46,XY Sex reversal, partial or complete, Map3K1-related|46,XY SEX reversal 6|46,XY sex reversal 6	http://purl.obolibrary.org/obo/MONDO_0013410	https://omim.org/entry/613762|UMLS:C3151064|DOID:0111769	
UBERON:0010039	biolink:AnatomicalEntity	food storage organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010039		
MONDO:0013415	biolink:Disease	chromosome 17p13.1 deletion syndrome		OMIM:613776|GARD:0010996|DOID:0060402|UMLS:C3151069	mondo.json	chromosome 17p13.1 deletion syndrome|17p13.1 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013415	DOID:0060402|https://omim.org/entry/613776|UMLS:C3151069	
MONDO:0013416	biolink:Disease	age related macular degeneration 8	Any age-related macular degeneration in which the cause of the disease is a mutation in the ARMS2 gene.	OMIM:613778|UMLS:C3151070|DOID:0110020	mondo.json	macular degeneration, age-related, 8|macular Degeneration, age-related, type 8|age-related macular degeneration caused by mutation in ARMS2|ARMS2 age-related macular degeneration|age related macular degeneration type 8|ARMD8	http://purl.obolibrary.org/obo/MONDO_0013416	https://omim.org/entry/613778|UMLS:C3151070|DOID:0110020	
MONDO:0013413	biolink:Disease	retinitis pigmentosa 45	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene.	DOID:0110402|ICD10CM:H35.5|OMIM:613767|UMLS:C3151066	mondo.json	retinitis pigmentosa caused by mutation in CNGB1|CNGB1 retinitis pigmentosa|retinitis pigmentosa type 45|RP45|retinitis pigmentosa 45	http://purl.obolibrary.org/obo/MONDO_0013413	https://omim.org/entry/613767|UMLS:C3151066|DOID:0110402	
MONDO:0013414	biolink:Disease	retinitis pigmentosa 44	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RGR gene.	UMLS:C3151068|DOID:0110394|ICD10CM:H35.5|OMIM:613769	mondo.json	retinitis pigmentosa 44|retinitis pigmentosa type 44|retinitis pigmentosa caused by mutation in RGR|RGR retinitis pigmentosa|RP44	http://purl.obolibrary.org/obo/MONDO_0013414	DOID:0110394|https://omim.org/entry/613769|UMLS:C3151068	
NCBITaxon:11080	biolink:OrganismalEntity	Saint Louis encephalitis virus		GC_ID:1	mondo.json	St. Louis encephalitis virus	http://purl.obolibrary.org/obo/NCBITaxon_11080		
MONDO:0001419	biolink:Disease	trachea squamous cell carcinoma	A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor.	NCIT:C4448|SCTID:254620000|DOID:12003|EFO:1000600|UMLS:C0345946	mondo.json	epidermoid carcinoma of the trachea|epidermoid carcinoma of trachea|squamous cell carcinoma of trachea|trachea epidermoid carcinoma|squamous cell carcinoma of the trachea|trachea squamous cell carcinoma|tracheal epidermoid carcinoma|tracheal squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0001419	UMLS:C0345946|DOID:12003|http://identifiers.org/snomedct/254620000|NCIT:C4448	
HP:0012888	biolink:PhenotypicFeature	Abnormality of the uterine cervix	An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.	UMLS:C4022694	mondo.json		http://purl.obolibrary.org/obo/HP_0012888		
NCBITaxon:11082	biolink:OrganismalEntity	West Nile virus		GC_ID:1	mondo.json	WNV	http://purl.obolibrary.org/obo/NCBITaxon_11082		
MONDO:0001418	biolink:Disease	trachea sarcoma	A rare malignant soft tissue neoplasm that arises from the trachea.	UMLS:C1336774|DOID:12002|NCIT:C6050	mondo.json	tracheal sarcoma|sarcoma of trachea|trachea sarcoma|sarcoma of the trachea	http://purl.obolibrary.org/obo/MONDO_0001418	DOID:12002|NCIT:C6050|UMLS:C1336774	
MONDO:0001417	biolink:Disease	tracheal lymphoma	A rare lymphoma that arises from the trachea. Signs and symptoms include dyspnea, cough, wheezing, and stridor.	DOID:12001|NCIT:C6248|UMLS:C1336773	mondo.json	lymphoma of the trachea|lymphoma of trachea|primary tracheal lymphoma|tracheal lymphoma|trachea lymphoma	http://purl.obolibrary.org/obo/MONDO_0001417	DOID:12001|NCIT:C6248|UMLS:C1336773	
NCBITaxon:11083	biolink:OrganismalEntity	Powassan virus		GC_ID:1	mondo.json	Flavivirus powassan	http://purl.obolibrary.org/obo/NCBITaxon_11083		
MONDO:0001416	biolink:Disease	female reproductive organ cancer	A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma.	ICD10CM:C51-C58|ICD9:184|NCIT:C4913|DOID:120|SCTID:126907002	mondo.json	malignant female reproductive organ neoplasm|malignant gynecologic tumor|malignant neoplasm of female genital organ|malignant neoplasm of female reproductive organ|gynecologic cancer|malignant female reproductive system neoplasm|malignant tumor of female reproductive system|malignant tumor of the female reproductive system|female reproductive cancer|female reproductive organ cancer|malignant neoplasm of female reproductive system|malignant female reproductive system tumor|malignant gynecologic neoplasm|malignant neoplasm of the female reproductive system|cancer of female reproductive organ	http://purl.obolibrary.org/obo/MONDO_0001416	http://purl.bioontology.org/ontology/ICD10CM/C51-C58|NCIT:C4913|http://identifiers.org/snomedct/126907002|DOID:120	
NCBITaxon:11084	biolink:OrganismalEntity	Tick-borne encephalitis virus		GC_ID:1	mondo.json	Tick born encephalitis virus|TBEV|FSME virus|tick-borne encephalitis virus TBEV|tick-borne encephalitis virus TBE virus	http://purl.obolibrary.org/obo/NCBITaxon_11084		
NCBITaxon:11086	biolink:OrganismalEntity	Louping ill virus		GC_ID:1	mondo.json	LI	http://purl.obolibrary.org/obo/NCBITaxon_11086		
MONDO:0001433	biolink:Disease	vaginal disorder	A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma.	DOID:121|MESH:D014623|UMLS:C0042251|NCIT:C26910|SCTID:25658005	mondo.json	vaginal disorder|vagina disease or disorder|disorder of vagina|disease of vagina|disease or disorder of vagina|vagina disease|vaginal disease	http://purl.obolibrary.org/obo/MONDO_0001433	NCIT:C26910|http://identifiers.org/snomedct/25658005|http://identifiers.org/mesh/D014623|UMLS:C0042251|DOID:121	
NCBITaxon:3754	biolink:OrganismalEntity	Prunus		PMID:24631854|GC_ID:1	mondo.json	Prunus subg. Amygdalus|Prunus subg. Cerasus|Prunus subg. Armeniaca	http://purl.obolibrary.org/obo/NCBITaxon_3754		
MONDO:0001432	biolink:Disease	obsolete sodoku disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001432		
MONDO:0001431	biolink:Disease	toxic or nutritional optic neuropathy	A disease with basis in optic nerve damage secondary to a toxic substance and/or nutritional deficiency.	SCTID:82108004|DOID:1209|UMLS:C0155302|ICD9:377.33|ICD10CM:H46.2	mondo.json	nutritional optic neuropathy	http://purl.obolibrary.org/obo/MONDO_0001431	http://identifiers.org/snomedct/82108004|http://purl.bioontology.org/ontology/ICD10CM/H46.2|UMLS:C0155302|DOID:1209	
MONDO:0001430	biolink:Disease	deep corneal vascularisation		ICD9:370.63|UMLS:C0155095|DOID:12087|SCTID:2102007	mondo.json	deep vascularization of cornea	http://purl.obolibrary.org/obo/MONDO_0001430	UMLS:C0155095|DOID:12087|http://identifiers.org/snomedct/2102007	
MONDO:0001437	biolink:Disease	pulmonary alveolar proteinosis	A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever.	SCTID:10501004|UMLS:C0034050|MESH:D011649|DOID:12120|NCIT:C85037|ICD9:516.0|Reactome:R-HSA-5683826	mondo.json	pulmonary alveolar proteinosis|PAP	http://purl.obolibrary.org/obo/MONDO_0001437	DOID:12120|http://identifiers.org/mesh/D011649|NCIT:C85037|UMLS:C0034050|http://identifiers.org/snomedct/10501004	
MONDO:0001436	biolink:Disease	hemosiderosis	Accumulation of iron in internal organs.	NCIT:C82892|GARD:0006595|UMLS:C0019114|MESH:D006486|SCTID:39011001|DOID:12119	mondo.json	haemosiderosis	http://purl.obolibrary.org/obo/MONDO_0001436	http://identifiers.org/mesh/D006486|http://identifiers.org/snomedct/39011001|NCIT:C82892|UMLS:C0019114|DOID:12119	gard_rare
NCBITaxon:3750	biolink:OrganismalEntity	Malus domestica		GC_ID:1	mondo.json	Malus x domestica|apple tree|cultivated apple|Pyrus malus|Pyrus malus var. domestica|Malus pumila var. domestica|Malus sylvestris var. domestica|Malus pumila auct.|Malus communis|apple	http://purl.obolibrary.org/obo/NCBITaxon_3750		
HP:0012874	biolink:PhenotypicFeature	Abnormal male reproductive system physiology	An abnormal functionality of the male genital system.	UMLS:C4020716	mondo.json	Abnormal male genital system physiology	http://purl.obolibrary.org/obo/HP_0012874		
MONDO:0001435	biolink:Disease	bullous retinoschisis		UMLS:C0344289|SCTID:65545003|ICD9:361.12|DOID:12108	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001435	http://identifiers.org/snomedct/65545003|UMLS:C0344289|DOID:12108	
MONDO:0001434	biolink:Disease	inflammatory spondylopathy		SCTID:202649003|DOID:12105|ICD9:720.89|ICD9:720.9|ICD9:720.81	mondo.json	inflammatory spondylopathies in disease EC|inflammatory spondylopathies in disease classified elsewhere|inflammatory spondylopathy in disease classified elsewhere	http://purl.obolibrary.org/obo/MONDO_0001434	http://identifiers.org/snomedct/202649003|DOID:12105	
UBERON:0009042	biolink:AnatomicalEntity	prostatic venous plexus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009042		
UBERON:0010032	biolink:AnatomicalEntity	anterior part of tongue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010032		
UBERON:0010031	biolink:AnatomicalEntity	6th arch mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010031		
MONDO:0013400	biolink:Disease	Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the <i>CYP11A1</i> gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.	Orphanet:168558|MESH:C566130|NCIT:C131422|OMIM:613743|DOID:0050546|UMLS:C3151055	mondo.json	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency|cholesterol side-chain cleavage deficiency|XY sex reversal-adrenal failure syndrome|p450scc deficiency|XY sex reversal-adrenal failure|adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete|adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete|46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0013400	NCIT:C131422|Orphanet:168558|https://omim.org/entry/613743|http://identifiers.org/mesh/C566130|UMLS:C3151055|DOID:0050546	ordo_disease
MONDO:0013401	biolink:Disease	hereditary spastic paraplegia 51	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene.	OMIM:613744|GARD:0010999|DOID:0110803|UMLS:C3151056	mondo.json	cerebral palsy, spastic quadriplegic, 4, formerly|AP4E1 hereditary spastic paraplegia|cerebral palsy, spastic quadriplegic, 4|CPSQ4|spastic quadriplegic cerebral palsy 4|spastic paraplegia 51, autosomal recessive|hereditary spastic paraplegia type 51|hereditary spastic paraplegia caused by mutation in AP4E1|autosomal dominant spastic paraplegia 51|SPG51	http://purl.obolibrary.org/obo/MONDO_0013401	DOID:0110803|https://omim.org/entry/613744|UMLS:C3151056	
ENVO:03000055	biolink:NamedThing	desublimation of water vapour into ice	A desublimation process during which water vapour is frozen into water ice.		mondo.json		http://purl.obolibrary.org/obo/ENVO_03000055		
UBERON:0010027	biolink:AnatomicalEntity	dorsal part of pharyngeal pouch 4			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010027		
UBERON:0010028	biolink:AnatomicalEntity	ventral part of pharyngeal pouch 4			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010028		
MONDO:0013404	biolink:Disease	hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.	OMIM:613752|GARD:0013177|DOID:0111039|Orphanet:88618|SCTID:724039002|UMLS:C4510276|UMLS:C3151058	mondo.json	hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency|psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency|hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency|hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	http://purl.obolibrary.org/obo/MONDO_0013404	http://identifiers.org/snomedct/724039002|UMLS:C4510276|https://omim.org/entry/613752|Orphanet:88618|UMLS:C3151058|DOID:0111039	ordo_disease
MONDO:0013405	biolink:Disease	retinitis pigmentosa 49	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene.	DOID:0110377|ICD10CM:H35.5|UMLS:C3151059|OMIM:613756	mondo.json	retinitis pigmentosa type 49|retinitis pigmentosa caused by mutation in CNGA1|CNGA1 retinitis pigmentosa|RP49|retinitis pigmentosa 49	http://purl.obolibrary.org/obo/MONDO_0013405	DOID:0110377|https://omim.org/entry/613756|UMLS:C3151059	
MONDO:0013402	biolink:Disease	retinitis pigmentosa 27	Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene.	OMIM:613750|MESH:C563526|DOID:0110397|ICD10CM:H35.5|UMLS:C1834329	mondo.json	NRL retinitis pigmentosa|retinitis pigmentosa 27|retinitis pigmentosa type 27|retinitis pigmentosa caused by mutation in NRL|retinal Degeneration, autosomal recessive, Clumped pigment type|RP27	http://purl.obolibrary.org/obo/MONDO_0013402	DOID:0110397|http://identifiers.org/mesh/C563526|UMLS:C1834329|https://omim.org/entry/613750	
MONDO:0013403	biolink:Disease	heterotaxy, visceral, 4, autosomal	Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene.	OMIM:613751|UMLS:C3151057	mondo.json	HTX4|heterotaxy, visceral, 4, autosomal|ACVR2B visceral heterotaxy|visceral heterotaxy caused by mutation in ACVR2B	http://purl.obolibrary.org/obo/MONDO_0013403	https://omim.org/entry/613751|UMLS:C3151057	
CHR:9606-chr1p21.3	biolink:NamedThing	1p21.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr1p21.3		
MONDO:0001429	biolink:Disease	transient arthropathy	Arthropathy that is not permanent.	ICD9:716.40|ICD9:716.48|ICD9:716.41|SCTID:66191007|DOID:12084|NCIT:C35761	mondo.json	transient arthropathy involving pelvic region and thigh|transient arthropathy involving shoulder region|transient arthropathy involving hand|transient arthropathy involving multiple sites|transient arthropathy involving forearm|transient arthropathy involving lower leg|transient arthropathy involving upper arm	http://purl.obolibrary.org/obo/MONDO_0001429	http://identifiers.org/snomedct/66191007|DOID:12084|NCIT:C35761	
NCBITaxon:3760	biolink:OrganismalEntity	Prunus persica		GC_ID:1	mondo.json	peach|Persica vulgaris|Amygdalus persica	http://purl.obolibrary.org/obo/NCBITaxon_3760		
MONDO:0001428	biolink:Disease	pylorospasm		ICD9:537.81|UMLS:C0152163|SCTID:335002|DOID:12072	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001428	DOID:12072|UMLS:C0152163|http://identifiers.org/snomedct/335002	
MONDO:0001427	biolink:Disease	Dieulafoy lesion	Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine. Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding. The condition occurs in people of all ages, but is more common in males than in females.Depending upon the site of the bleeding, symptoms may include vomiting up blood (hematemesis); sticky, dark-colored stools (melena); passage of fresh blood in the stool (hematochezia); or coughing up blood (hemoptysis). Some affected individuals may only present with blood pressure problems. Treatment may include endoscopic and/or surgical techniques. Though treatment can be effective, Dieulafoy lesions and the associated blood loss can be fatal, especially if not diagnosed and treated promptly.	DOID:12070|UMLS:C0341217|ICD9:537.84|ICD10CM:K31.82|GARD:0010930|SCTID:109558001	mondo.json	Exulceratio simplex Dieulafoy|Dieulafoy lesion (hemorrhagic) of intestine|Dieulafoy disease|Dieulafoy lesion (hemorrhagic) of stomach and duodenum|Dieulafoy's lesion	http://purl.obolibrary.org/obo/MONDO_0001427	DOID:12070|UMLS:C0341217|http://identifiers.org/snomedct/109558001|http://purl.bioontology.org/ontology/ICD10CM/K31.82	gard_rare
NCBITaxon:11095	biolink:OrganismalEntity	Pestivirus		PMID:7747470|PMID:12832207|GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_11095		
HGNC:359	biolink:NamedThing	AIPL1			mondo.json		http://identifiers.org/hgnc/359		
HGNC:358	biolink:NamedThing	AIP			mondo.json		http://identifiers.org/hgnc/358		
CHEBI:49020	biolink:ChemicalSubstance	hormone antagonist	A chemical substance which inhibits the function of the endocrine glands, the biosynthesis of their secreted hormones, or the action of hormones upon their specific sites.		mondo.json	hormone antagonists	http://purl.obolibrary.org/obo/CHEBI_49020		
MFOMD:0000143	biolink:NamedThing	major depressive episode	The essential feature is a period of at least 2 weeks during which there is either depressed mood or the loss of interest or pleasure in nearly all activities. In children and adolescents, the mood may be irritable rather than sad.  DSM-IV-TR (american Psychiatric Association)		mondo.json		http://purl.obolibrary.org/obo/MFOMD_0000143		
CHEBI:49023	biolink:ChemicalSubstance	prostaglandin antagonist	A compound that inhibits the action of prostaglandins.		mondo.json	prostaglandin inhibitor	http://purl.obolibrary.org/obo/CHEBI_49023		
GO:1902262	biolink:NamedThing	apoptotic process involved in blood vessel morphogenesis	Any apoptotic process that is involved in blood vessel morphogenesis.		mondo.json	apoptosis involved in patterning of blood vessels|type I programmed cell death involved in patterning of blood vessels|signaling (initiator) caspase activity involved in patterning of blood vessels|apoptotic cell death involved in patterning of blood vessels|apoptotic programmed cell death involved in patterning of blood vessels|apoptotic program involved in patterning of blood vessels|programmed cell death by apoptosis involved in patterning of blood vessels	http://purl.obolibrary.org/obo/GO_1902262		
GO:0001539	biolink:NamedThing	cilium or flagellum-dependent cell motility	Cell motility due to movement of eukaryotic cilia or bacterial-type flagella or archaeal-type flagella.		mondo.json	ciliary/flagellar motility|ciliary or bacterial-type flagellar motility	http://purl.obolibrary.org/obo/GO_0001539		
HGNC:368	biolink:NamedThing	AKAP10			mondo.json		http://identifiers.org/hgnc/368		
HP:0000802	biolink:PhenotypicFeature	Impotence	Inability to develop or maintain an erection of the penis.	MSH:D007172|SNOMEDCT_US:397803000|UMLS:C0242350	mondo.json	Difficulty getting an erection|Difficulty getting a full erection	http://purl.obolibrary.org/obo/HP_0000802		
HGNC:362	biolink:NamedThing	AK2			mondo.json		http://identifiers.org/hgnc/362		
HGNC:361	biolink:NamedThing	AK1			mondo.json		http://identifiers.org/hgnc/361		
HGNC:360	biolink:NamedThing	AIRE			mondo.json		http://identifiers.org/hgnc/360		
GO:1990806	biolink:NamedThing	ligand-gated ion channel signaling pathway	The series of molecular signals initiated by activation of a ligand-gated ion channel on the surface of a cell. The pathway begins with binding of an extracellular ligand to a ligand-gated ion channel and ends with a molecular function that directly regulates a downstream cellular process, e.g. transcription.		mondo.json	ligand-gated ion channel signalling pathway	http://purl.obolibrary.org/obo/GO_1990806		
GO:1902271	biolink:NamedThing	D3 vitamins binding	Binding to D3 vitamins.		mondo.json		http://purl.obolibrary.org/obo/GO_1902271		
HGNC:336	biolink:NamedThing	AGTR1			mondo.json		http://identifiers.org/hgnc/336		
HGNC:333	biolink:NamedThing	AGT			mondo.json		http://identifiers.org/hgnc/333		
HGNC:330	biolink:NamedThing	AGRP			mondo.json		http://identifiers.org/hgnc/330		
CHEBI:27690	biolink:ChemicalSubstance	acetazolamide			mondo.json	acetazolamide|acetazolamidum|Defiltran|acetazolamida|5-acetylamino-1,3,4-thiadiazole-2-sulfonamide|2-acetylamino-1,3,4-thiadiazole-5-sulfonamide|Diluran|5-ACETAMIDO-1,3,4-THIADIAZOLE-2-SULFONAMIDE|Glaupax|Acetazolamide|N-[5-(aminosulfonyl)-1,3,5-thiadiazol-2-yl]acetamide|N-(5-sulfamoyl-1,3,4-thiadiazol-2-yl)acetamide|N-[5-(aminosulfonyl)-1,3,4-thiadiazol-2-yl]acetamide|Diacarb|Diamox	http://purl.obolibrary.org/obo/CHEBI_27690		
HGNC:7501	biolink:NamedThing	MT-TW			mondo.json		http://identifiers.org/hgnc/7501		
HGNC:7500	biolink:NamedThing	MT-TV			mondo.json		http://identifiers.org/hgnc/7500		
HGNC:329	biolink:NamedThing	AGRN			mondo.json		http://identifiers.org/hgnc/329		
GO:0001523	biolink:NamedThing	retinoid metabolic process	The chemical reactions and pathways involving retinoids, any member of a class of isoprenoids that contain or are derived from four prenyl groups linked head-to-tail. Retinoids include retinol and retinal and structurally similar natural derivatives or synthetic compounds, but need not have vitamin A activity.		mondo.json	retinoid metabolism	http://purl.obolibrary.org/obo/GO_0001523		
NCBITaxon:376913	biolink:OrganismalEntity	Haplorrhini		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_376913		
HGNC:343	biolink:NamedThing	AHCY			mondo.json		http://identifiers.org/hgnc/343		
NCBITaxon:35082	biolink:OrganismalEntity	Cryptosporidiidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_35082		
HGNC:7508	biolink:NamedThing	MUC1			mondo.json		http://identifiers.org/hgnc/7508		
HGNC:341	biolink:NamedThing	AGXT			mondo.json		http://identifiers.org/hgnc/341		
CHEBI:25046	biolink:ChemicalSubstance	linear tetrapyrrole			mondo.json		http://purl.obolibrary.org/obo/CHEBI_25046		
HGNC:7516	biolink:NamedThing	MUC5B			mondo.json		http://identifiers.org/hgnc/7516		
HGNC:7518	biolink:NamedThing	MUC7			mondo.json		http://identifiers.org/hgnc/7518		
GO:0001525	biolink:NamedThing	angiogenesis	Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.		mondo.json	blood vessel formation from pre-existing blood vessels	http://purl.obolibrary.org/obo/GO_0001525		
CHEBI:37022	biolink:ChemicalSubstance	amino-acid anion			mondo.json	amino acid anions|amino-acid anion|amino-acid anions	http://purl.obolibrary.org/obo/CHEBI_37022		
HGNC:317	biolink:NamedThing	AFP			mondo.json		http://identifiers.org/hgnc/317		
HGNC:315	biolink:NamedThing	AFG3L2			mondo.json		http://identifiers.org/hgnc/315		
NCBITaxon:86661	biolink:OrganismalEntity	Bacillus cereus group		PMID:23475340|PMID:1715736|GC_ID:11|PMID:26373441	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_86661		
HP:0000834	biolink:PhenotypicFeature	Abnormality of the adrenal glands	Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.	UMLS:C0001621|SNOMEDCT_US:30171000|MSH:D000307|UMLS:C4021794	mondo.json	Adrenal gland disease|Adrenal abnormalities	http://purl.obolibrary.org/obo/HP_0000834		
HGNC:7523	biolink:NamedThing	TRIM37			mondo.json		http://identifiers.org/hgnc/7523		
MFOMD:0000105	biolink:NamedThing	enuresis	 The habitual voiding of urine during the day or night into one's clothes, bed, or floor. The behaviour is generally involuntary, but in rare situations it may be intentional.   "Understanding abnormal behavior". David Sue, Derald Wing Sue, Stanley Sue. 		mondo.json		http://purl.obolibrary.org/obo/MFOMD_0000105		
HGNC:7525	biolink:NamedThing	MUSK			mondo.json		http://identifiers.org/hgnc/7525		
MFOMD:0000107	biolink:NamedThing	compulsion	 The need to perform acts or to dwell on thoughts to reduce anxiety.  "Understanding abnormal behavior". David Sue, Derald Wing Sue, Stanley Sue. 		mondo.json		http://purl.obolibrary.org/obo/MFOMD_0000107		
HGNC:7527	biolink:NamedThing	MUTYH			mondo.json		http://identifiers.org/hgnc/7527		
MFOMD:0000101	biolink:NamedThing	delusion	 Erroneous beliefs that usually involve a misinterpretation of perceptions or experiences. (their content may include a variety of themes (e.g., persecutory, referential, somatic, religious, or grandiose).   DSM-IV-TR (american Psychiatric Association)		mondo.json		http://purl.obolibrary.org/obo/MFOMD_0000101		
HGNC:7526	biolink:NamedThing	MMUT			mondo.json		http://identifiers.org/hgnc/7526		
HGNC:7529	biolink:NamedThing	MVD			mondo.json		http://identifiers.org/hgnc/7529		
HP:0000830	biolink:PhenotypicFeature	Anterior hypopituitarism	A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.	UMLS:C4025821	mondo.json		http://purl.obolibrary.org/obo/HP_0000830		
HP:0012823	biolink:PhenotypicFeature	Clinical modifier	This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects.	UMLS:C4021064	mondo.json	Phenotypic modifier	http://purl.obolibrary.org/obo/HP_0012823		
HP:0012824	biolink:PhenotypicFeature	Severity	The intensity or degree of a manifestation.	SNOMEDCT_US:103370009|UMLS:C0522510	mondo.json	Intensity	http://purl.obolibrary.org/obo/HP_0012824		
HP:0012825	biolink:PhenotypicFeature	Mild	Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean.	SNOMEDCT_US:446411000124101|UMLS:C1513302	mondo.json	Mild	http://purl.obolibrary.org/obo/HP_0012825		
HP:0012826	biolink:PhenotypicFeature	Moderate	Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean.	UMLS:C0205081|SNOMEDCT_US:446421000124109|SNOMEDCT_US:6736007	mondo.json		http://purl.obolibrary.org/obo/HP_0012826		
MFOMD:0000109	biolink:NamedThing	obsession	 An intrusive and repetitive thought or image that produce anxiety.   "Understanding abnormal behavior". David Sue, Derald Wing Sue, Stanley Sue.		mondo.json		http://purl.obolibrary.org/obo/MFOMD_0000109		
HP:0012828	biolink:PhenotypicFeature	Severe	Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean.	UMLS:C0205082|SNOMEDCT_US:24484000	mondo.json	Severe	http://purl.obolibrary.org/obo/HP_0012828		
CHEBI:52625	biolink:ChemicalSubstance	inorganic hydroxy compound			mondo.json	inorganic hydroxides	http://purl.obolibrary.org/obo/CHEBI_52625		
HGNC:327	biolink:NamedThing	AGPS			mondo.json		http://identifiers.org/hgnc/327		
GO:0001501	biolink:NamedThing	skeletal system development	The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton).		mondo.json	skeletal development	http://purl.obolibrary.org/obo/GO_0001501		
HGNC:325	biolink:NamedThing	AGPAT2			mondo.json		http://identifiers.org/hgnc/325		
HGNC:321	biolink:NamedThing	AGL			mondo.json		http://identifiers.org/hgnc/321		
HP:0000843	biolink:PhenotypicFeature	Hyperparathyroidism	Excessive production of parathyroid hormone (PTH) by the parathyroid glands.	SNOMEDCT_US:66999008|UMLS:C0020502|MSH:D006961	mondo.json	Elevated blood parathyroid hormone level	http://purl.obolibrary.org/obo/HP_0000843		
HP:0000846	biolink:PhenotypicFeature	Adrenal insufficiency	Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.	MSH:D000309|SNOMEDCT_US:386584007|SNOMEDCT_US:237785004|SNOMEDCT_US:111563005|UMLS:C0001623	mondo.json	Hypoadrenalism	http://purl.obolibrary.org/obo/HP_0000846		
HP:0000847	biolink:PhenotypicFeature	Abnormality of renin-angiotensin system	An abnormality of the renin-angiotensin system.	UMLS:C4021793	mondo.json	Abnormality of the renin-aldosterone axis	http://purl.obolibrary.org/obo/HP_0000847		
HGNC:7534	biolink:NamedThing	MXI1			mondo.json		http://identifiers.org/hgnc/7534		
HP:0000842	biolink:PhenotypicFeature	Hyperinsulinemia	An increased concentration of insulin in the blood.	UMLS:C0020459|SNOMEDCT_US:83469008|MSH:D006946	mondo.json	Elevated insulin level	http://purl.obolibrary.org/obo/HP_0000842		
GO:0001508	biolink:NamedThing	action potential	A process in which membrane potential cycles through a depolarizing spike, triggered in response to depolarization above some threshold, followed by repolarization. This cycle is driven by the flow of ions through various voltage gated channels with different thresholds and ion specificities.		mondo.json		http://purl.obolibrary.org/obo/GO_0001508		
GO:0001503	biolink:NamedThing	ossification	The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.		mondo.json	bone formation|osteogenesis|bone biosynthesis	http://purl.obolibrary.org/obo/GO_0001503		
HGNC:7530	biolink:NamedThing	MVK			mondo.json		http://identifiers.org/hgnc/7530		
GO:0001505	biolink:NamedThing	regulation of neurotransmitter levels	Any process that modulates levels of neurotransmitter.		mondo.json		http://purl.obolibrary.org/obo/GO_0001505		
HGNC:319	biolink:NamedThing	ACAN			mondo.json		http://identifiers.org/hgnc/319		
HGNC:318	biolink:NamedThing	AGA			mondo.json		http://identifiers.org/hgnc/318		
HP:0000819	biolink:PhenotypicFeature	Diabetes mellitus	A group of abnormalities characterized by hyperglycemia and glucose intolerance.	MSH:D003920|SNOMEDCT_US:73211009|UMLS:C0011849	mondo.json		http://purl.obolibrary.org/obo/HP_0000819		
HP:0000818	biolink:PhenotypicFeature	Abnormality of the endocrine system	An abnormality of the endocrine system.	SNOMEDCT_US:362969004|MSH:D004700|UMLS:C0014130|UMLS:C4025823	mondo.json	Endocrine system disease	http://purl.obolibrary.org/obo/HP_0000818		
HP:0000811	biolink:PhenotypicFeature	Abnormal external genitalia		UMLS:C4025825	mondo.json	Abnormal external genitalia	http://purl.obolibrary.org/obo/HP_0000811		
MFOMD:0000122	biolink:NamedThing	phobia	 A persistent, irrational fear of a specific object, activity, or situation (the phobic stimulus) that results in a compelling desire to avoid it.    DSM-IV-TR (american Psychiatric Association)		mondo.json		http://purl.obolibrary.org/obo/MFOMD_0000122		
HP:0000812	biolink:PhenotypicFeature	Abnormal internal genitalia	An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).	UMLS:C4025824	mondo.json	Abnormal internal genitalia	http://purl.obolibrary.org/obo/HP_0000812		
HP:0000815	biolink:PhenotypicFeature	Hypergonadotropic hypogonadism	Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.	UMLS:C0948896|SNOMEDCT_US:370999003|MSH:D007006	mondo.json	Hypergonadotrophic hypogonadism|Primary hypogonadism	http://purl.obolibrary.org/obo/HP_0000815		
UBERON:0012615	biolink:AnatomicalEntity	umbilical smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012615		
NCBITaxon:72041	biolink:OrganismalEntity	Eumalacostraca		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_72041		
HGNC:7549	biolink:NamedThing	MYBPC1			mondo.json		http://identifiers.org/hgnc/7549		
HP:0000829	biolink:PhenotypicFeature	Hypoparathyroidism	A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.	SNOMEDCT_US:36976004|MSH:D007011|UMLS:C0020626	mondo.json	Decreased parathyroid hormone secretion|Low parathyroid hormone	http://purl.obolibrary.org/obo/HP_0000829		
HGNC:303	biolink:NamedThing	AEBP1			mondo.json		http://identifiers.org/hgnc/303		
HP:0000822	biolink:PhenotypicFeature	Hypertension	The presence of chronic increased pressure in the systemic arterial system.	MSH:D006973|UMLS:C0497247|UMLS:C0020538|SNOMEDCT_US:24184005|SNOMEDCT_US:38341003	mondo.json	High blood pressure|Systemic hypertension|Arterial hypertension	http://purl.obolibrary.org/obo/HP_0000822		
HP:0000826	biolink:PhenotypicFeature	Precocious puberty	The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.	SNOMEDCT_US:400179000|UMLS:C0034013|MSH:D011629|SNOMEDCT_US:123527003	mondo.json	Early onset of puberty|Early puberty	http://purl.obolibrary.org/obo/HP_0000826		
HP:0000828	biolink:PhenotypicFeature	Abnormality of the parathyroid gland	An abnormality of the parathyroid gland.	SNOMEDCT_US:73132005|UMLS:C0030517|MSH:D010279|UMLS:C4025822	mondo.json	Parathyroid disease	http://purl.obolibrary.org/obo/HP_0000828		
CHEBI:25000	biolink:ChemicalSubstance	lactone	Any cyclic carboxylic ester containing a 1-oxacycloalkan-2-one structure, or an analogue having unsaturation or heteroatoms replacing one or more carbon atoms of the ring.		mondo.json	Lakton|lactona|lactones|Laktone|lactonas|lactone|Lacton	http://purl.obolibrary.org/obo/CHEBI_25000		
MFOMD:0000119	biolink:NamedThing	dissociation	 A disruption in the usually integrated functions of consciousness, memory, identity, or perception of the environment.  The disturbance may be sudden or gradual, transient or chronic.   DSM-IV-TR (american Psychiatric Association)		mondo.json		http://purl.obolibrary.org/obo/MFOMD_0000119		
HGNC:7559	biolink:NamedThing	MYCN			mondo.json		http://identifiers.org/hgnc/7559		
HP:0000820	biolink:PhenotypicFeature	Abnormality of the thyroid gland	An abnormality of the thyroid gland.	MSH:D013959|UMLS:C0040128|SNOMEDCT_US:14304000	mondo.json	Thyroid disease|Thyroid abnormality|Abnormality of the thyroid gland	http://purl.obolibrary.org/obo/HP_0000820		
HGNC:7551	biolink:NamedThing	MYBPC3			mondo.json		http://identifiers.org/hgnc/7551		
HGNC:7553	biolink:NamedThing	MYC			mondo.json		http://identifiers.org/hgnc/7553		
ENVO:01000314	biolink:NamedThing	high osmolarity environment	A high osmolarity environment is an environment in which entities are exposed to high concentrations of solutes.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000314		
UBERON:4000020	biolink:AnatomicalEntity	mineralized extracellular matrix			mondo.json		http://purl.obolibrary.org/obo/UBERON_4000020		
ENVO:01000317	biolink:NamedThing	aquatic environment	An environment whose dynamics are strongly influenced by water.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000317		
ENVO:01000313	biolink:NamedThing	anthropogenic environment	An anthropogenic environment is an environmental system which is the product of human activity.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000313		
ENVO:01000319	biolink:NamedThing	rocky slope	A rocky slope is a slope which has a surface primarily composed of rock.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000319		
CL:0000362	biolink:Cell	epidermal cell	An epithelial cell of the integument (the outer layer of an organism).	BTO:0001470|CALOHA:TS-0283|FMA:62411	mondo.json	cell of epidermis|epithelial cell of skin	http://purl.obolibrary.org/obo/CL_0000362		
CL:0000365	biolink:Cell	animal zygote	Diploid cell produced by the fusion of sperm cell nucleus and egg cell.	FMA:72395|BTO:0000854|EHDAA2:0004546	mondo.json	zygote	http://purl.obolibrary.org/obo/CL_0000365		
UBERON:4000013	biolink:AnatomicalEntity	mineralized skeletal tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_4000013		
ENVO:01000303	biolink:NamedThing	endolithic environment	An endolithic environment is an environment that exists within solid rock.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000303		
GO:0050433	biolink:NamedThing	regulation of catecholamine secretion	Any process that modulates the frequency, rate or extent of the regulated release of catecholamines.		mondo.json		http://purl.obolibrary.org/obo/GO_0050433		
ENVO:01000304	biolink:NamedThing	high pressure environment	A high pressure environment is an environment in which all material entities are exposed to a high ratio of force per unit area.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000304		
ENVO:01000305	biolink:NamedThing	high temperature environment	A high temperature environment is an environment in which material entities are exposed to increased levels of heat radiation or which have molecules or atoms moving randomly with increased levels of average kinietic energy.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000305		
GO:0050432	biolink:NamedThing	catecholamine secretion	The regulated release of catecholamines by a cell. The catecholamines are a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine.		mondo.json		http://purl.obolibrary.org/obo/GO_0050432		
ENVO:01000307	biolink:NamedThing	saline water environment	An environmental system which has its properties and dynamics determined by saline water.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000307		
ENVO:01000309	biolink:NamedThing	cold environment	An environment which has a lower temperature than some local or global average.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000309		
CL:0000377	biolink:Cell	tracheoblast			mondo.json		http://purl.obolibrary.org/obo/CL_0000377		
ENVO:01000334	biolink:NamedThing	talus slope	A talus slope is a slope which has a surface layer composed of scree.		mondo.json	scree slope	http://purl.obolibrary.org/obo/ENVO_01000334		
CL:0000347	biolink:Cell	scleral cell	A cell of the sclera of the eye.		mondo.json		http://purl.obolibrary.org/obo/CL_0000347		
HGNC:24054	biolink:NamedThing	KNL1			mondo.json		http://identifiers.org/hgnc/24054		
CL:0000348	biolink:Cell	choroidal cell of the eye	A cell of the choroid of the eye.		mondo.json		http://purl.obolibrary.org/obo/CL_0000348		
CL:0000349	biolink:Cell	extraembryonic cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000349		
ENVO:01000325	biolink:NamedThing	aquatic layer	A layer in a water mass, itself composed primarily of water.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000325		
ENVO:01000321	biolink:NamedThing	sea water environment	An environmental system determined by seawater.		mondo.json	ocean water environment	http://purl.obolibrary.org/obo/ENVO_01000321		
ENVO:01000323	biolink:NamedThing	atmospheric boundary layer	The atmospheric boundary layer is the lowest layer of an atmosphere which is strongly influenced by its contact with a planetary surface with strong vertical mixing and in which physical quantities such as flow velocity, temperature, and moisture display rapid fluctuations (turbulence).		mondo.json	planetary boundary layer	http://purl.obolibrary.org/obo/ENVO_01000323		
ENVO:01000324	biolink:NamedThing	planetary surface	A planetary surface is a surface layer where the solid or liquid material of a planet comes into contact with an atmosphere or outer space.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000324		
CL:0000358	biolink:Cell	sphincter associated smooth muscle cell	A smooth muscle cell that is part of a sphincter. A sphincter is a typically circular muscle that normally maintains constriction of a natural body passage or orifice and which relaxes as required by normal physiological functioning.		mondo.json		http://purl.obolibrary.org/obo/CL_0000358		
CL:0000359	biolink:Cell	vascular associated smooth muscle cell	A smooth muscle cell associated with the vasculature.		mondo.json	vascular smooth muscle cell|VSMC	http://purl.obolibrary.org/obo/CL_0000359		
CL:0000351	biolink:Cell	trophoblast cell	A cell lining the outside of the blastocyst. After binding to the endometrium, trophoblast cells develop into two distinct layers, an inner layer of mononuclear cytotrophoblast cells and an outer layer of continuous multinuclear cytoplasm, the syncytiotrophoblast cells, which form the early fetal-maternal interface.	FMA:83028	mondo.json	trophoblastic cell	http://purl.obolibrary.org/obo/CL_0000351		
CL:0000352	biolink:Cell	epiblast cell	A cell of the outer layer of a blastula that gives rise to the ectoderm after gastrulation.		mondo.json		http://purl.obolibrary.org/obo/CL_0000352		
CL:0000353	biolink:Cell	blastoderm cell	An undifferentiated cell produced by early cleavages of the fertilized egg (zygote).	FMA:72551|BTO:0001473	mondo.json	blastomere	http://purl.obolibrary.org/obo/CL_0000353		
CL:0000354	biolink:Cell	blastemal cell		ncithesaurus:Blastemal_Cell	mondo.json	blastema cell	http://purl.obolibrary.org/obo/CL_0000354		
CL:0000355	biolink:Cell	multi-potent skeletal muscle stem cell	A multifate stem cell found in skeletal muscle than can differentiate into many different cell types, including muscle. Distinct cell type from satellite cell.	FMA:86767	mondo.json		http://purl.obolibrary.org/obo/CL_0000355		
CL:0000357	biolink:Cell	stratified epithelial stem cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000357		
ENVO:01000320	biolink:NamedThing	marine environment	A marine environment and enviroment which is determined by a marine water body.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000320		
HGNC:24039	biolink:NamedThing	CLMP			mondo.json		http://identifiers.org/hgnc/24039		
HGNC:399	biolink:NamedThing	ALB			mondo.json		http://identifiers.org/hgnc/399		
CL:0000325	biolink:Cell	stuff accumulating cell	A cell that is specialised to accumulate a particular substance(s).		mondo.json		http://purl.obolibrary.org/obo/CL_0000325		_upper_level
HGNC:397	biolink:NamedThing	ALAS2			mondo.json		http://identifiers.org/hgnc/397		
CL:0000327	biolink:Cell	extracellular matrix secreting cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000327		
HGNC:395	biolink:NamedThing	ALAD			mondo.json		http://identifiers.org/hgnc/395		
CL:0000329	biolink:Cell	oxygen accumulating cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000329		
HGNC:24035	biolink:NamedThing	APPL1			mondo.json		http://identifiers.org/hgnc/24035		
HGNC:393	biolink:NamedThing	AKT3			mondo.json		http://identifiers.org/hgnc/393		
HGNC:24036	biolink:NamedThing	APC2			mondo.json		http://identifiers.org/hgnc/24036		
HGNC:392	biolink:NamedThing	AKT2			mondo.json		http://identifiers.org/hgnc/392		
HGNC:391	biolink:NamedThing	AKT1			mondo.json		http://identifiers.org/hgnc/391		
HGNC:26690	biolink:NamedThing	CEP120			mondo.json		http://identifiers.org/hgnc/26690		
CL:0000322	biolink:Cell	pneumocyte	An epithelial cell that lines the peripheral gas exchange region of the lungs of air-breathing vertebrates.	CALOHA:TS-2168|FMA:62499|BTO:0000395	mondo.json	alveolar epithelial cell|pneumonocyte	http://purl.obolibrary.org/obo/CL_0000322		
CL:0000336	biolink:Cell	adrenal medulla chromaffin cell	A cell found within the adrenal medulla that secrete biogenic amine hormones upon stimulation.	FMA:69262	mondo.json	medullary chromaffin cell of adrenal gland	http://purl.obolibrary.org/obo/CL_0000336		
CL:0000339	biolink:Cell	glioblast (sensu Vertebrata)	An early neural cell developing from the early ependymal cell of the neural tube.	FMA:70564	mondo.json	spongioblast	http://purl.obolibrary.org/obo/CL_0000339		
GO:1902224	biolink:NamedThing	ketone body metabolic process	The chemical reactions and pathways involving ketone body.		mondo.json	ketone body metabolism	http://purl.obolibrary.org/obo/GO_1902224		
GO:1902221	biolink:NamedThing	erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process	The chemical reactions and pathways involving erythrose 4-phosphate/phosphoenolpyruvate family amino acid.		mondo.json	erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolism	http://purl.obolibrary.org/obo/GO_1902221		
CL:0000333	biolink:Cell	migratory neural crest cell	A cell derived from the specialized ectoderm flanking each side of the embryonic neural plate, which after the closure of the neural tube, forms masses of cells that migrate out from the dorsal aspect of the neural tube to spread throughout the body.	FMA:86667	mondo.json		http://purl.obolibrary.org/obo/CL_0000333		
NCBITaxon:2169701	biolink:OrganismalEntity	Onyong-nyong virus		GC_ID:1	mondo.json	ONN|O'nyong-nyong virus	http://purl.obolibrary.org/obo/NCBITaxon_2169701		
CL:0000335	biolink:Cell	mesenchyme condensation cell	A mesenchymal cell in embryonic development found in a contracting mass and that gives rise to osteoprogenitors.		mondo.json		http://purl.obolibrary.org/obo/CL_0000335		
HGNC:379	biolink:NamedThing	AKAP9			mondo.json		http://identifiers.org/hgnc/379		
CL:0000306	biolink:Cell	crystallin accumulating cell		FBbt:00004193	mondo.json	lens cell	http://purl.obolibrary.org/obo/CL_0000306		
CL:0000307	biolink:Cell	tracheal epithelial cell	An epithelial cell found in the trachea.	FMA:74793	mondo.json	tracheocyte	http://purl.obolibrary.org/obo/CL_0000307		
CL:0000300	biolink:Cell	gamete	A mature sexual reproductive cell having a single set of unpaired chromosomes.	CALOHA:TS-0395|FBbt:00005412|FMA:18649	mondo.json	haploid germ cell|haploid nucleated cell	http://purl.obolibrary.org/obo/CL_0000300		
HGNC:12033	biolink:NamedThing	TRAF3			mondo.json		http://identifiers.org/hgnc/12033		
HGNC:388	biolink:NamedThing	AKR1D1			mondo.json		http://identifiers.org/hgnc/388		
HGNC:387	biolink:NamedThing	AKR1C4			mondo.json		http://identifiers.org/hgnc/387		
CL:0000314	biolink:Cell	milk secreting cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000314		
HGNC:385	biolink:NamedThing	AKR1C2			mondo.json		http://identifiers.org/hgnc/385		
CL:0000317	biolink:Cell	sebum secreting cell	A cell secreting sebun, an oily substance secreted by sebaceous glands, composed of keratin, fat, and cellular debris.		mondo.json	sebocyte	http://purl.obolibrary.org/obo/CL_0000317		
NCIT:C101267	biolink:NamedThing	Estrogen Receptor and/or Progesterone Receptor Positive			mondo.json		http://purl.obolibrary.org/obo/NCIT_C101267		
CL:0000319	biolink:Cell	mucus secreting cell		BTO:0003689	mondo.json	mucous cell	http://purl.obolibrary.org/obo/CL_0000319		
CL:0000311	biolink:Cell	keratin accumulating cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000311		
CL:0000312	biolink:Cell	keratinocyte	An epidermal cell which synthesizes keratin and undergoes a characteristic change as it moves upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. Successive stages of differentiation of the keratinocytes forming the epidermal layers are basal cell, spinous or prickle cell, and the granular cell.	FMA:62879|BTO:0000667|CALOHA:TS-0500	mondo.json	malpighian cell|keratinized cell of epidermis	http://purl.obolibrary.org/obo/CL_0000312		
CL:0000313	biolink:Cell	serous secreting cell	Columnar glandular cell with irregular nucleus, copious granular endoplasmic reticulum and supranuclear granules. Secretes a watery fluid containing proteins known as serous fluid.	FMA:62511|BTO:0003687	mondo.json	serous cell	http://purl.obolibrary.org/obo/CL_0000313		
MONDO:0001488	biolink:Disease	anterior corneal pigmentation		ICD9:371.11|SCTID:18377001|DOID:12307|UMLS:C0155104	mondo.json	anterior corneal pigmentations	http://purl.obolibrary.org/obo/MONDO_0001488	UMLS:C0155104|http://identifiers.org/snomedct/18377001|DOID:12307	
MONDO:0001487	biolink:Disease	intrahepatic bile duct cancer	A cancer that involves the intrahepatic bile duct.	UMLS:C0546835|SCTID:187777008|DOID:12298|ICD9:155.1	mondo.json	Ca intrahepatic bile ducts|malignant neoplasm of intrahepatic bile ducts|malignant neoplasm of intrahepatic bile duct|malignant intrahepatic bile duct neoplasm|cancer of intrahepatic bile duct|malignant neoplasm of intrahepatic biliary passages	http://purl.obolibrary.org/obo/MONDO_0001487	http://identifiers.org/snomedct/187777008|DOID:12298|UMLS:C0546835	
NCBITaxon:11102	biolink:OrganismalEntity	Hepacivirus		GC_ID:1	mondo.json	Hepatitis C viruses|Hepatitis C-like viruses|Hepatitis C virus group	http://purl.obolibrary.org/obo/NCBITaxon_11102		
MONDO:0025457	biolink:Disease	pulmonary adenomatosis, ovine	A contagious, neoplastic, pulmonary disease of sheep characterized by hyperplasia and hypertrophy of pneumocytes and epithelial cells of the lung. It is caused by jaagsiekte sheep retrovirus.	MESH:D011648|UMLS:C0034049	mondo.json	Ovine pulmonary carcinomas|carcinomas, Ovine pulmonary|pulmonary carcinomas, Ovine|pulmonary Ovine Adenomatoses|Ovine pulmonary Adenomatoses|pulmonary carcinoma, Ovine|adenomatosis, pulmonary, Ovine|pulmonary Ovine adenomatosis|Ovine pulmonary adenomatosis|adenomatosis, pulmonary Ovine|adenomatosis, Ovine pulmonary|Ovine adenomatosis, pulmonary|Ovine pulmonary carcinoma|Jaagsiekte|Adenomatoses, Ovine pulmonary|Adenomatoses, pulmonary Ovine|Ovine Adenomatoses, pulmonary|pulmonary Adenomatoses, Ovine|carcinoma, Ovine pulmonary	http://purl.obolibrary.org/obo/MONDO_0025457	http://identifiers.org/mesh/D011648|UMLS:C0034049	
MONDO:0001486	biolink:Disease	obsolete Vogt-Koyanagi-Harada disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001486		
MONDO:0001485	biolink:Disease	atypical depressive disorder	A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite ("comfort eating"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection.	DOID:12294|SCTID:191659001|ICD9:296.82	mondo.json	atypical depression	http://purl.obolibrary.org/obo/MONDO_0001485	DOID:12294|http://identifiers.org/snomedct/191659001	
NCBITaxon:11103	biolink:OrganismalEntity	Hepacivirus C		GC_ID:1	mondo.json	human hepatitis C virus|hepatitis C virus HCV|post-transfusion hepatitis non A non B virus|human hepatitis C virus HCV|human hepatitis virus C HCV|HCV|Hepatitis C virus	http://purl.obolibrary.org/obo/NCBITaxon_11103		
MONDO:0025459	biolink:Disease	rinderpest	A viral disease of cloven-hoofed animals caused by morbillivirus. It may be acute, subacute, or chronic with the major lesions characterized by inflammation and ulceration of the entire digestive tract. The disease was declared successfully eradicated worldwide in 2010.	MESH:D012301|UMLS:C0035637	mondo.json	plague, cattle|cattle plague	http://purl.obolibrary.org/obo/MONDO_0025459	http://identifiers.org/mesh/D012301|UMLS:C0035637	
MONDO:0001489	biolink:Disease	obsolete urticaria pigmentosa			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001489		
MONDO:0001480	biolink:Disease	malignant tumor of undescended testis		UMLS:C0153595|DOID:12276|SCTID:188219004|ICD9:186.0	mondo.json	malignant neoplasm of retained testis|malignant tumor of retained testis|malignant neoplasm of undescended testis	http://purl.obolibrary.org/obo/MONDO_0001480	DOID:12276|UMLS:C0153595|http://identifiers.org/snomedct/188219004	
MONDO:0001484	biolink:Disease	paranoid schizophrenia	A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect.	NCIT:C35006|ICD9:295.31|MESH:D012563|ICD9:295.30|SCTID:31658008|ICD9:295.3|ICD9:295.32|DOID:1229|ICD10CM:F20.0	mondo.json	chronic paranoid schizophrenia|paranoid type schizophrenia subchronic state|paranoid type schizophrenia|paraphrenic schizophrenia|paraphrenia - late	http://purl.obolibrary.org/obo/MONDO_0001484	http://identifiers.org/mesh/D012563|DOID:1229|NCIT:C35006|http://purl.bioontology.org/ontology/ICD10CM/F20.0|http://identifiers.org/snomedct/31658008	
MONDO:0001483	biolink:Disease	obsolete Crimean-Congo hemorrhagic fever			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001483		
MONDO:0025453	biolink:Disease	pneumonia, progressive interstitial, of sheep	Chronic respiratory disease caused by the visna-maedi virus. It was formerly believed to be identical with jaagsiekte (pulmonary adenomatosis, ovine) but is now recognized as a separate entity.	MESH:D011021|UMLS:C0032306	mondo.json	progressive interstitial pneumonia of sheep|Maedi	http://purl.obolibrary.org/obo/MONDO_0025453	http://identifiers.org/mesh/D011021|UMLS:C0032306	
MONDO:0001482	biolink:Disease	testicular leukemia	A myeloid or more commonly lymphoid leukemia (acute or chronic) affecting the testis. Microscopically, there is interstitial infiltration of the testis by leukemic cells. Acute lymphoblastic leukemia with testicular involvement is not uncommon in boys. Sometimes (up to 10% of the cases), testicular involvement may be the initial manifestation of relapsed acute lymphoblastic leukemia. --03	UMLS:C1336711|NCIT:C9277|DOID:12286	mondo.json	testicular leukemia	http://purl.obolibrary.org/obo/MONDO_0001482	DOID:12286|UMLS:C1336711|NCIT:C9277	
MONDO:0001481	biolink:Disease	femoral vein thrombophlebitis	A thrombophlebitis that involves the femoral vein.	UMLS:C0265066|ICD9:451.11|SCTID:1748006|DOID:12282	mondo.json	thrombophlebitis of deep femoral vein|thrombophlebitis of femoral vein|phlebitis and thrombophlebitis of femoral vein|phlebitis and thrombophlebitis of femoral vein (deep) (superficial)|femoral vein thrombophlebitis|thrombophlebitis of the femoral vein	http://purl.obolibrary.org/obo/MONDO_0001481	http://identifiers.org/snomedct/1748006|DOID:12282|UMLS:C0265066	
MONDO:0013477	biolink:Disease	hypertrophic cardiomyopathy 20	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.	UMLS:C3151267|DOID:0110326|OMIM:613876	mondo.json	CMH20|cardiomyopathy, hypertrophic, 20|cardiomyopathy, familial hypertrophic, type 20|cardiomyopathy, familial hypertrophic, 20|cardiomyopathy familial hypertrophic 20|NEXN hypertrophic cardiomyopathy|hypertrophic cardiomyopathy type 20|hypertrophic cardiomyopathy caused by mutation in NEXN	http://purl.obolibrary.org/obo/MONDO_0013477	UMLS:C3151267|DOID:0110326|https://omim.org/entry/613876	
MONDO:0013478	biolink:Disease	PLIN1-related familial partial lipodystrophy		GARD:0012601|OMIM:613877|UMLS:C3151268|Orphanet:280356|DOID:0070205	mondo.json	familial partial lipodystrophy associated with PLIN1 mutations|familial partial lipodystrophy type 4|PLIN1-related FPLD|lipodystrophy, familial partial, type 4|FPLD4|lipodystrophy, familial partial, associated with Plin1 mutations|FPLD due to PLIN1 mutations	http://purl.obolibrary.org/obo/MONDO_0013478	UMLS:C3151268|Orphanet:280356|DOID:0070205|https://omim.org/entry/613877	ordo_disease
MONDO:0013475	biolink:Disease	hypertrophic cardiomyopathy 18	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.	UMLS:C3151265|OMIM:613874|DOID:0110324	mondo.json	PLN hypertrophic cardiomyopathy|hypertrophic cardiomyopathy type 18|cardiomyopathy, familial hypertrophic, type 18|cardiomyopathy, hypertrophic, 18|cardiomyopathy, familial hypertrophic, 18|hypertrophic cardiomyopathy caused by mutation in PLN|cardiomyopathy familial hypertrophic 18|CMH18	http://purl.obolibrary.org/obo/MONDO_0013475	UMLS:C3151265|DOID:0110324|https://omim.org/entry/613874	
HGNC:12015	biolink:NamedThing	TPO			mondo.json		http://identifiers.org/hgnc/12015		
MONDO:0013476	biolink:Disease	hypertrophic cardiomyopathy 19	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CALR3 gene.	OMIM:613875|DOID:0110325|UMLS:C3151266	mondo.json	hypertrophic cardiomyopathy type 19|cardiomyopathy, familial hypertrophic, type 19|CALR3 hypertrophic cardiomyopathy|CMH19|cardiomyopathy, familial hypertrophic, 19|cardiomyopathy familial hypertrophic 19|hypertrophic cardiomyopathy caused by mutation in CALR3	http://purl.obolibrary.org/obo/MONDO_0013476	https://omim.org/entry/613875	
HGNC:12014	biolink:NamedThing	TPMT			mondo.json		http://identifiers.org/hgnc/12014		
HGNC:14677	biolink:NamedThing	DEAF1			mondo.json		http://identifiers.org/hgnc/14677		
MONDO:0013479	biolink:Disease	dilated cardiomyopathy 1HH	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene.	UMLS:C3151293|OMIM:613881|DOID:0110448	mondo.json	familial isolated dilated cardiomyopathy caused by mutation in BAG3|dilated cardiomyopathy type 1HH|CMD1HH|cardiomyopathy, dilated, type 1Hh|cardiomyopathy, dilated, 1HH|BAG3 familial isolated dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0013479	UMLS:C3151293|DOID:0110448|https://omim.org/entry/613881	
MONDO:0013470	biolink:Disease	generalized epilepsy with febrile seizures plus, type 7	Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the SCN9A gene.	OMIM:613863|MESH:C567827|DOID:0111295	mondo.json	Gefs+, type 7|generalized epilepsy with febrile seizures plus caused by mutation in SCN9A|generalized epilepsy with febrile seizures plus, type 7|GEFSP7|febrile seizures, familial, 3B|SCN9A generalized epilepsy with febrile seizures plus	http://purl.obolibrary.org/obo/MONDO_0013470	DOID:0111295|https://omim.org/entry/613863|http://identifiers.org/mesh/C567827	
HGNC:14673	biolink:NamedThing	FYCO1			mondo.json		http://identifiers.org/hgnc/14673		
HGNC:14674	biolink:NamedThing	PCDH15			mondo.json		http://identifiers.org/hgnc/14674		
MONDO:0013473	biolink:Disease	Hirschsprung disease, cardiac defects, and autonomic dysfunction		MESH:C563939|OMIM:613870|UMLS:C3151237	mondo.json	Hirschsprung disease, CARDIAC defects, and autonomic dysfunction|HCAD|Hirschsprung disease, cardiac defects, and autonomic dysfunction	http://purl.obolibrary.org/obo/MONDO_0013473	UMLS:C3151237|http://identifiers.org/mesh/C563939|https://omim.org/entry/613870	
HGNC:12013	biolink:NamedThing	TPM4			mondo.json		http://identifiers.org/hgnc/12013		
MONDO:0013474	biolink:Disease	hypertrophic cardiomyopathy 17	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene.	UMLS:C3151264|OMIM:613873|DOID:0110323	mondo.json	cardiomyopathy, familial hypertrophic, type 17|hypertrophic cardiomyopathy type 17|JPH2 hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 17|cardiomyopathy familial hypertrophic 17|hypertrophic cardiomyopathy caused by mutation in JPH2|cardiomyopathy, hypertrophic, 17|CMH17	http://purl.obolibrary.org/obo/MONDO_0013474	UMLS:C3151264|DOID:0110323|https://omim.org/entry/613873	
HGNC:12012	biolink:NamedThing	TPM3			mondo.json		http://identifiers.org/hgnc/12012		
MONDO:0013471	biolink:Disease	autosomal recessive nonsyndromic hearing loss 61	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene.	DOID:0110513|UMLS:C3151230|OMIM:613865	mondo.json	SLC26A5 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness 61|DFNB61|deafness, autosomal recessive 61|autosomal recessive nonsyndromic deafness caused by mutation in SLC26A5|autosomal recessive nonsyndromic deafness type 61|deafness, autosomal recessive type 61|autosomal recessive deafness 61	http://purl.obolibrary.org/obo/MONDO_0013471	DOID:0110513|https://omim.org/entry/613865|UMLS:C3151230	
HGNC:12011	biolink:NamedThing	TPM2			mondo.json		http://identifiers.org/hgnc/12011		
MONDO:0013472	biolink:Disease	fatal infantile hypertonic myofibrillar myopathy		UMLS:C3151236|DOID:0080309|Orphanet:280553|OMIM:613869	mondo.json	myofibrillar myopathy type 7|myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related|alpha-B crystalin-related fatal infantile hypertonic myofibrillar myopathy|MFM, fatal infantile hypertonic, alpha-B crystallin-related|fatal infantile hypertonic myofibrillar myopathy	http://purl.obolibrary.org/obo/MONDO_0013472	Orphanet:280553|https://omim.org/entry/613869|UMLS:C3151236|DOID:0080309	ordo_disease
HGNC:12010	biolink:NamedThing	TPM1			mondo.json		http://identifiers.org/hgnc/12010		
MONDO:0001499	biolink:Disease	retroperitoneal lymphoma	A lymphoma that involves the retroperitoneal space.	DOID:12339|UMLS:C1335779|SCTID:422853008|NCIT:C7353	mondo.json	retroperitoneal space lymphoma|primary retroperitoneal lymphoma|lymphoma of retroperitoneal space|retroperitoneal lymphoma	http://purl.obolibrary.org/obo/MONDO_0001499	http://identifiers.org/snomedct/422853008|NCIT:C7353|DOID:12339|UMLS:C1335779	
UBERON:0010090	biolink:AnatomicalEntity	future falx cerebri			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010090		
MONDO:0001498	biolink:Disease	varicocele	A condition characterized by the dilated tortuous veins of the spermatic cord with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume.	ICD10CM:I86.1|SCTID:46871008|DOID:12337|ICD9:456.4|MESH:D014646|UMLS:C0042341	mondo.json	scrotum varicose disease|varicose disease of scrotum|scrotal varices	http://purl.obolibrary.org/obo/MONDO_0001498	UMLS:C0042341|http://purl.bioontology.org/ontology/ICD10CM/I86.1|DOID:12337|http://identifiers.org/snomedct/46871008|http://identifiers.org/mesh/D014646	
UBERON:0010091	biolink:AnatomicalEntity	future hindbrain meninx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010091		
MONDO:0001497	biolink:Disease	male genital organ vascular disease		SCTID:198057005|ICD9:608.83|DOID:12335|UMLS:C0042374	mondo.json	vascular disorder of male genital organs	http://purl.obolibrary.org/obo/MONDO_0001497	UMLS:C0042374|http://identifiers.org/snomedct/198057005|DOID:12335	
MONDO:0001496	biolink:Disease	male genital organ stricture		DOID:12333|SCTID:198064007|ICD9:608.85	mondo.json	stricture of male genital organs	http://purl.obolibrary.org/obo/MONDO_0001496	DOID:12333|http://identifiers.org/snomedct/198064007	
MONDO:0025445	biolink:Disease	Wieacker-Wolff syndrome (spectrum)		OMIMPS:314580	mondo.json		http://purl.obolibrary.org/obo/MONDO_0025445	https://omim.org/phenotypicSeries/PS314580	
UBERON:0010092	biolink:AnatomicalEntity	future metencephalon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010092		
MONDO:0025449	biolink:Disease	paratuberculosis	A chronic gastroenteritis in ruminants caused by mycobacterium avium subspecies paratuberculosis.	MESH:D010283|UMLS:C0030524	mondo.json	Paratuberculoses|disease, Johne|disease, Johne's|Johne disease|Johnes disease|Johne's disease	http://purl.obolibrary.org/obo/MONDO_0025449	UMLS:C0030524|http://identifiers.org/mesh/D010283	
NCBITaxon:11118	biolink:OrganismalEntity	Coronaviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_11118		
MONDO:0001491	biolink:Disease	cough variant asthma	An asthma that is characterized by chronic nonproductive cough without shortness of breath.	SCTID:409663006|DOID:12323|UMLS:C0694548|ICD9:493.82|ICD10CM:J45.991	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001491	DOID:12323|http://identifiers.org/snomedct/409663006|UMLS:C0694548|http://purl.bioontology.org/ontology/ICD10CM/J45.991	
HGNC:26661	biolink:NamedThing	RNF168			mondo.json		http://identifiers.org/hgnc/26661		
MONDO:0001490	biolink:Disease	corneal granular dystrophy	A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene.	ICD9:371.53|UMLS:C0018179|NCIT:C34651|SCTID:45283008|ICD10CM:H18.53|DOID:12318	mondo.json	granular corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0001490	UMLS:C0018179|DOID:12318|http://identifiers.org/snomedct/45283008|http://purl.bioontology.org/ontology/ICD10CM/H18.53|NCIT:C34651	
UBERON:0010096	biolink:AnatomicalEntity	future myelencephalon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010096		
MONDO:0001495	biolink:Disease	hematocele of tunica vaginalis testis	Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the testis leading to testicular hematocele or scrotal hematocele.	SCTID:66259004|UMLS:C0018931|MESH:D006398|DOID:12332|UMLS:C1456400	mondo.json	male hematocele|hematocele	http://purl.obolibrary.org/obo/MONDO_0001495	DOID:12332|http://identifiers.org/mesh/D006398|http://identifiers.org/snomedct/66259004|UMLS:C1456400|UMLS:C0018931	
MONDO:0001494	biolink:Disease	obsolete transvestism	OBSOLETE. A disorder characterized by recurrent sexual urges, fantasies, or behaviors in a heterosexual male involving cross-dressing.	MESH:D014190|ICD9:302.3|UMLS:C0040774|NCIT:C94359|SCTID:472981000|DOID:1233	mondo.json	Transvestic fetishism|dual-role transvestism|cross dresser	http://purl.obolibrary.org/obo/MONDO_0001494	UMLS:C0040774|DOID:1233|http://identifiers.org/mesh/D014190|NCIT:C94359|http://identifiers.org/snomedct/472981000	
MONDO:0001493	biolink:Disease	chronic pulmonary heart disease	Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure.	DOID:12326|UMLS:C0238074|ICD9:416.9|NCIT:C34478|ICD9:416.8|SCTID:87837008	mondo.json	Cor pulmonale	http://purl.obolibrary.org/obo/MONDO_0001493	DOID:12326|UMLS:C0238074|http://identifiers.org/snomedct/87837008|NCIT:C34478	
MONDO:0001492	biolink:Disease	kyphoscoliotic heart disease		SCTID:45650007|DOID:12325|ICD9:416.1|UMLS:C0152102|ICD10CM:I27.1	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001492	DOID:12325|http://identifiers.org/snomedct/45650007|UMLS:C0152102|http://purl.bioontology.org/ontology/ICD10CM/I27.1	
MONDO:0013466	biolink:Disease	orofacial cleft 13		OMIM:613857|UMLS:C3151222|DOID:0080406	mondo.json	orofacial cleft 13|OFC13	http://purl.obolibrary.org/obo/MONDO_0013466	UMLS:C3151222|DOID:0080406|https://omim.org/entry/613857	
ENVO:03000111	biolink:NamedThing	snow mass	A mass of snow.		mondo.json	snow accumulation|accumulation of snow	http://purl.obolibrary.org/obo/ENVO_03000111		
ENVO:03000110	biolink:NamedThing	cryoform	A geographic feature which is primarily composed of a continuous mass of snow and/or ice.		mondo.json		http://purl.obolibrary.org/obo/ENVO_03000110		
MONDO:0013467	biolink:Disease	immunodeficiency due to ficolin3 deficiency		Orphanet:331190|SCTID:766705006|OMIM:613860|UMLS:C3151226	mondo.json	lectin complement activation pathway, defect in, 3|Fcn3 deficiency|ficolin 3 deficiency|immunodeficiency due to ficolin 3 deficiency	http://purl.obolibrary.org/obo/MONDO_0013467	http://identifiers.org/snomedct/766705006|UMLS:C3151226|Orphanet:331190|https://omim.org/entry/613860	ordo_disease
CHR:9606-chr9q33.3-q34.11	biolink:NamedThing	9q33.3-q34.11 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr9q33.3-q34.11		
MONDO:0013464	biolink:Disease	episodic ataxia type 5	Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours.	UMLS:C1866039|Orphanet:211067|OMIM:613855|MESH:C566601|DOID:0050993|SCTID:718756005	mondo.json	EA5|episodic ataxia, type 5|hereditary episodic ataxia caused by mutation in CACNB4|CACNB4 hereditary episodic ataxia	http://purl.obolibrary.org/obo/MONDO_0013464	http://identifiers.org/mesh/C566601|http://identifiers.org/snomedct/718756005|Orphanet:211067|DOID:0050993|UMLS:C1866039|https://omim.org/entry/613855	ordo_disease
MONDO:0013465	biolink:Disease	achromatopsia 4	Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene.	OMIM:613856|UMLS:C1841721|DOID:0110010|MESH:C564206	mondo.json	achromatopsia 4|GNAT2 achromatopsia|achromatopsia type 4|ACHM4|achromatopsia caused by mutation in GNAT2	http://purl.obolibrary.org/obo/MONDO_0013465	DOID:0110010|http://identifiers.org/mesh/C564206|UMLS:C1841721|https://omim.org/entry/613856	
MONDO:0013468	biolink:Disease	retinitis pigmentosa 59	Any retinitis pigmentosa in which the cause of the disease is a mutation in the DHDDS gene.	ICD10CM:H35.5|OMIM:613861|UMLS:C3151227|DOID:0110352	mondo.json	retinitis pigmentosa type 59|congenital disorder of glycosylation, type 1bb|DHDDS retinitis pigmentosa|retinitis pigmentosa caused by mutation in DHDDS|RP59|congenital disorder of glycosylation, type Ibb|retinitis pigmentosa 59	http://purl.obolibrary.org/obo/MONDO_0013468	UMLS:C3151227|DOID:0110352|https://omim.org/entry/613861	
MONDO:0013469	biolink:Disease	retinitis pigmentosa 38	Any retinitis pigmentosa in which the cause of the disease is a mutation in the MERTK gene.	OMIM:613862|UMLS:C3151228|DOID:0110367|ICD10CM:H35.5	mondo.json	RP38|MERTK retinitis pigmentosa|retinitis pigmentosa type 38|retinitis pigmentosa caused by mutation in MERTK|Rod-cone dystrophy, childhood-onset|retinitis pigmentosa 38	http://purl.obolibrary.org/obo/MONDO_0013469	UMLS:C3151228|DOID:0110367|https://omim.org/entry/613862	
HGNC:12029	biolink:NamedThing	TRAC			mondo.json		http://identifiers.org/hgnc/12029		
NCBITaxon:37727	biolink:OrganismalEntity	Talaromyces marneffei		GC_ID:1	mondo.json	Penicillium marneffei	http://purl.obolibrary.org/obo/NCBITaxon_37727		
MONDO:0013462	biolink:Disease	fucosyltransferase 6 deficiency		OMIM:613852|UMLS:C3151219	mondo.json	fucosyltransferase 6 deficiency	http://purl.obolibrary.org/obo/MONDO_0013462	UMLS:C3151219|https://omim.org/entry/613852	
MONDO:0013463	biolink:Disease	congenital heart defects, multiple types, 6	Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the GDF1 gene.	UMLS:C3151221|DOID:0060772|OMIM:613854	mondo.json	transposition of the great arteries, dextro-looped 3|DTGA3|GDF1 dextro-looped transposition of the great arteries|CHTD6|transposition of the great arteries, dextro-looped type 3|transposition of the great arteries, dextro-looped 3, formerly|dextro-looped transposition of the great arteries type 3|dextro-looped transposition of the great arteries caused by mutation in GDF1|dextro-looped transposition of the great arteries 3|congenital heart defects, multiple types, 6	http://purl.obolibrary.org/obo/MONDO_0013463	UMLS:C3151221|DOID:0060772|https://omim.org/entry/613854	
MONDO:0013460	biolink:Disease	osteogenesis imperfecta type 12	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene.	DOID:0110348|UMLS:C3151433|OMIM:613849|Orphanet:216820	mondo.json	SP7 osteogenesis imperfecta|osteogenesis imperfecta caused by mutation in SP7|osteogenesis imperfecta, type XII|OI, type 12|osteogenesis imperfecta, type 12|OI12|osteogenesis imperfecta type XII	http://purl.obolibrary.org/obo/MONDO_0013460	UMLS:C3151433|DOID:0110348|https://omim.org/entry/613849	
MONDO:0013461	biolink:Disease	inosine triphosphatase deficiency	An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes.	NCIT:C129974|ICD9:277.2|Orphanet:319684|OMIM:613850|SCTID:238011005|MESH:C564127|UMLS:C0342800	mondo.json	inosine triphosphate pyrophosphohydrolase deficiency|inosine triphosphatase deficiency	http://purl.obolibrary.org/obo/MONDO_0013461	NCIT:C129974|http://identifiers.org/mesh/C564127|UMLS:C0342800|http://identifiers.org/snomedct/238011005|https://omim.org/entry/613850|Orphanet:319684	
MONDO:0001466	biolink:Disease	punctate epithelial keratoconjunctivitis		DOID:12197|ICD9:370.21|SCTID:416069001|UMLS:C0259799	mondo.json	Thygeson's superficial punctate keratitis|Thygeson superficial punctate keratitis|punctate keratitis	http://purl.obolibrary.org/obo/MONDO_0001466	DOID:12197|UMLS:C0259799|http://identifiers.org/snomedct/416069001	
MONDO:0001465	biolink:Disease	superficial keratitis		DOID:12196|ICD9:370.20|SCTID:27019000|UMLS:C0155074	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001465	DOID:12196|UMLS:C0155074|http://identifiers.org/snomedct/27019000	
MONDO:0001464	biolink:Disease	sigmoid colon cancer	A malignant neoplasm involving the sigmoid colon.	DOID:12192|UMLS:C0153436|ICD9:153.3|SCTID:363410008	mondo.json	malignant neoplasm of sigmoid colon|malignant sigmoid colon neoplasm|malignant tumor of sigmoid colon|cancer of sigmoid colon|Ca sigmoid colon|sigmoid colon cancer	http://purl.obolibrary.org/obo/MONDO_0001464	http://identifiers.org/snomedct/363410008|DOID:12192|UMLS:C0153436	
MONDO:0001463	biolink:Disease	splenic flexure cancer	A malignant neoplasm involving the splenic flexure of colon.	ICD9:153.7|SCTID:363413005|DOID:12191|UMLS:C0153440	mondo.json	malignant neoplasm of splenic flexure of colon|splenic flexure of colon cancer|malignant splenic flexure of colon neoplasm|Ca splenic flexure - colon|malignant neoplasm of splenic flexure|malignant tumor of splenic flexure|cancer of splenic flexure of colon	http://purl.obolibrary.org/obo/MONDO_0001463	http://identifiers.org/snomedct/363413005|DOID:12191|UMLS:C0153440	
UBERON:0010083	biolink:AnatomicalEntity	future dermis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010083		
MONDO:0001469	biolink:Disease	cascade stomach		DOID:12234|ICD9:537.6|SCTID:54051005|UMLS:C0267183	mondo.json	hourglass stricture or stenosis of stomach	http://purl.obolibrary.org/obo/MONDO_0001469	UMLS:C0267183|http://identifiers.org/snomedct/54051005|DOID:12234	
CHR:9606-chr3q26	biolink:NamedThing	3q26 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr3q26		
UBERON:0010084	biolink:AnatomicalEntity	future diaphragm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010084		
MONDO:0001468	biolink:Disease	synovial plica syndrome		ICD9:727.9|SCTID:240171001|UMLS:C0410485|DOID:12225|ICD9:727.83	mondo.json	plica syndrome|synovial plica of knee	http://purl.obolibrary.org/obo/MONDO_0001468	UMLS:C0410485|DOID:12225|http://identifiers.org/snomedct/240171001	
CHR:9606-chr3q23	biolink:NamedThing	3q23 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr3q23		
UBERON:0010081	biolink:AnatomicalEntity	future common hepatic duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010081		
MONDO:0001467	biolink:Disease	obsolete specific bursitis often of occupational origin		UMLS:C0158332|SCTID:42812006|ICD9:727.2|DOID:12223	mondo.json	specific bursitides often of occupational origin	http://purl.obolibrary.org/obo/MONDO_0001467	UMLS:C0158332|DOID:12223|http://identifiers.org/snomedct/42812006	
UBERON:0009097	biolink:AnatomicalEntity	gravid organism			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009097		
CHR:9606-chr3q29	biolink:NamedThing	3q29 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr3q29		
CHR:9606-chr3q27	biolink:NamedThing	3q27 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr3q27		
MONDO:0001462	biolink:Disease	descending colon cancer	A malignant neoplasm involving the descending colon.	ICD9:153.2|DOID:12190|UMLS:C0153435|SCTID:363409003	mondo.json	malignant neoplasm of descending colon|descending colon cancer|malignant tumor of descending colon|cancer of descending colon|malignant descending colon neoplasm|Ca descending colon|malignant neoplasm of left colon	http://purl.obolibrary.org/obo/MONDO_0001462	http://identifiers.org/snomedct/363409003|DOID:12190|UMLS:C0153435	
RO:0009501	biolink:NamedThing	realized in response to	r 'realized in response to' s iff, r is a realizable (e.g. a plant trait such as responsivity to drought), s is an environmental stimulus (a process), and s directly causes the realization of r.	RO:0009501	mondo.json	triggered by process	http://purl.obolibrary.org/obo/RO_0009501		
MONDO:0001461	biolink:Disease	tinea corporis	A dermatophyte disease of the glabrous skin, excluding the scalp, beard, face, hands, feet, and groin.	UMLS:C0546826|SCTID:84849002|ICD9:110.5|ICD10CM:B35.4|DOID:12179|UMLS:C0040252	mondo.json	dermatophytosis of the trunk|dermatophytosis of the body	http://purl.obolibrary.org/obo/MONDO_0001461	http://identifiers.org/snomedct/84849002|UMLS:C0040252|DOID:12179|http://purl.bioontology.org/ontology/ICD10CM/B35.4|UMLS:C0546826	
MONDO:0001460	biolink:Disease	dyshormonogenic goiter		DOID:12175|UMLS:C0152077|SCTID:190304001|ICD9:246.1	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001460	DOID:12175|http://identifiers.org/snomedct/190304001|UMLS:C0152077	
MONDO:0025431	biolink:Disease	keratoconjunctivitis, infectious	Infectious diseases of cattle, sheep, and goats, characterized by blepharospasm, lacrimation, conjunctivitis, and varying degrees of corneal opacity and ulceration. In cattle the causative agent is moraxella (moraxella) bovis; in sheep, mycoplasma; rickettsia; chlamydia; or acholeplasma; in goats, rickettsia.	MESH:D007639|UMLS:C0022576	mondo.json	Keratoconjunctivitides, infectious|infectious keratoconjunctivitis|infectious Keratoconjunctivitides	http://purl.obolibrary.org/obo/MONDO_0025431	http://identifiers.org/mesh/D007639|UMLS:C0022576	
MONDO:0013455	biolink:Disease	hypertrophic cardiomyopathy 16	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene.	OMIM:613838|UMLS:C3151204|DOID:0110322	mondo.json	cardiomyopathy, familial hypertrophic, type 16|hypertrophic cardiomyopathy caused by mutation in MYOZ2|cardiomyopathy, familial hypertrophic, 16|cardiomyopathy, hypertrophic, 16|CMH16|hypertrophic cardiomyopathy type 16|cardiomyopathy familial hypertrophic 16|MYOZ2 hypertrophic cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0013455	UMLS:C3151204|DOID:0110322|https://omim.org/entry/613838	
MONDO:0013456	biolink:Disease	constitutional megaloblastic anemia with severe neurologic disease		SCTID:124178006|Orphanet:319651|GARD:0011000|MESH:C565095|OMIM:613839	mondo.json	megaloblastic anemia due to dihydrofolate reductase deficiency|dihydrofolate reductase deficiency|DHFR deficiency	http://purl.obolibrary.org/obo/MONDO_0013456	Orphanet:319651|http://identifiers.org/mesh/C565095|http://identifiers.org/snomedct/124178006|https://omim.org/entry/613839	ordo_disease
MONDO:0013453	biolink:Disease	Leber congenital amaurosis 8	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene.	OMIM:613835|UMLS:C3151202|GARD:0010881|DOID:0110079|ICD10CM:H35.5	mondo.json	LCA8|Leber congenital amaurosis type 8|CRB1 Leber congenital amaurosis|Leber congenital amaurosis caused by mutation in CRB1|Leber congenital amaurosis 8	http://purl.obolibrary.org/obo/MONDO_0013453	UMLS:C3151202|DOID:0110079|https://omim.org/entry/613835	gard_rare
MONDO:0013454	biolink:Disease	Leber congenital amaurosis 11	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene.	GARD:0010488|UMLS:C1840284|DOID:0110216|ICD10CM:H35.5|MESH:C564140|OMIM:613837|HGNC:6052	mondo.json	LCA11|amaurosis congenita of Leber, type 11|Leber congenital amaurosis 11|Leber congenital amaurosis caused by mutation in IMPDH1|IMPDH1 Leber congenital amaurosis|Leber congenital amaurosis type 11	http://purl.obolibrary.org/obo/MONDO_0013454	DOID:0110216|http://identifiers.org/mesh/C564140|UMLS:C1840284|https://omim.org/entry/613837	gard_rare
MONDO:0013459	biolink:Disease	osteogenesis imperfecta type 10	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene.	Orphanet:216812|OMIM:613848|GARD:0012874|DOID:0110346|UMLS:C3151211	mondo.json	OI type 10|SERPINH1 osteogenesis imperfecta|OI10|OI type X|osteogenesis imperfecta caused by mutation in SERPINH1|osteogenesis imperfecta, type X|OI, type 10|osteogenesis imperfecta, type 10|osteogenesis imperfecta type X	http://purl.obolibrary.org/obo/MONDO_0013459	https://omim.org/entry/613848|UMLS:C3151211|DOID:0110346	
MONDO:0013457	biolink:Disease	Leber congenital amaurosis 15	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene.	ICD10CM:H35.5|UMLS:C3151206|UMLS:C1838603|GARD:0010884|OMIM:613843|DOID:0110189	mondo.json	Leber congenital amaurosis type 15|retinitis pigmentosa, juvenile, Tulp1-related|Leber congenital amaurosis caused by mutation in TULP1|LCA15|TULP1 Leber congenital amaurosis|Leber congenital amaurosis 15	http://purl.obolibrary.org/obo/MONDO_0013457	https://omim.org/entry/613843|UMLS:C3151206|DOID:0110189	gard_rare
MONDO:0013458	biolink:Disease	hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome		UMLS:C3151209|Orphanet:363694|OMIM:613845	mondo.json	hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome|Hupra syndrome|HUPRA syndrome|hyperuricemia, pulmonary hypertension, renal failure, and alkalosis|HUPRAS	http://purl.obolibrary.org/obo/MONDO_0013458	https://omim.org/entry/613845|Orphanet:363694|UMLS:C3151209	ordo_disease
UBERON:0009098	biolink:AnatomicalEntity	gravid uterus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009098		
MONDO:0013451	biolink:Disease	obsolete progressive myoclonic epilepsy type 5			mondo.json		http://purl.obolibrary.org/obo/MONDO_0013451		
MONDO:0013452	biolink:Disease	multisystemic smooth muscle dysfunction syndrome	Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals.	GARD:0012811|OMIM:613834|UMLS:C3151201|Orphanet:404463	mondo.json	multisystemic smooth muscle dysfunction syndrome|congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy|mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy	http://purl.obolibrary.org/obo/MONDO_0013452	UMLS:C3151201|Orphanet:404463|https://omim.org/entry/613834	ordo_disease|gard_rare
MONDO:0013450	biolink:Disease	congenital stationary night blindness 1D	Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene.	DOID:0110868|UMLS:C3151193|OMIM:613830	mondo.json	Csnb, complete, autosomal recessive|night blindness, congenital stationary (complete), 1D, autosomal recessive|congenital stationary night blindness type 1D|night blindness, congenital stationary, type 1D|congenital stationary night blindness 1D|CSNB1D|SLC24A1 congenital stationary night blindness|congenital stationary night blindness 1D autosomal recessive|congenital stationary night blindness caused by mutation in SLC24A1	http://purl.obolibrary.org/obo/MONDO_0013450	UMLS:C3151193|DOID:0110868|https://omim.org/entry/613830	
HP:0009145	biolink:PhenotypicFeature	Abnormal cerebral artery morphology	Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery.	UMLS:C4021520	mondo.json	Abnormality of cerebral artery|Abnormality of the cerebral arteries	http://purl.obolibrary.org/obo/HP_0009145		
MONDO:0001477	biolink:Disease	obsolete aniridia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001477		
MONDO:0001476	biolink:Disease	coloboma	An abnormality in which a part of a structure in one or both eyes is missing.	Orphanet:194|NCIT:C98877|DOID:12270|ICD9:743.49|SCTID:93390002|MESH:D003103	mondo.json	coloboma of eye|ocular coloboma|coloboma of the eye|congenital ocular coloboma|coloboma of macula	http://purl.obolibrary.org/obo/MONDO_0001476	DOID:12270|NCIT:C98877|http://identifiers.org/mesh/D003103|http://identifiers.org/snomedct/93390002	disease_grouping|ordo_group_of_disorders
MONDO:0001475	biolink:Disease	neutropenia	A decrease in the number of neutrophils found in the blood.	DOID:1227|UMLS:C0027947|ICD9:288.0|ICD9:288.00|HP:0001875|MESH:D009503|SCTID:303011007	mondo.json	neutropenic disorder|neutropenia	http://purl.obolibrary.org/obo/MONDO_0001475	http://identifiers.org/snomedct/303011007|http://identifiers.org/mesh/D009503|UMLS:C0027947|DOID:1227	
MONDO:0001474	biolink:Disease	chronic salpingo-oophoritis	Chronic form of salpingo-oophoritis.	ICD9:614.1|SCTID:198142001|DOID:12265|UMLS:C0156328	mondo.json	chronic salpingitis and oophoritis|chronic salpingo-oophoritis|chronic salpingitis/oophoritis|salpingo-oophoritis, chronic	http://purl.obolibrary.org/obo/MONDO_0001474	UMLS:C0156328|DOID:12265|http://identifiers.org/snomedct/198142001	
HP:0012795	biolink:PhenotypicFeature	Abnormality of the optic disc	A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination.	UMLS:C3808249	mondo.json		http://purl.obolibrary.org/obo/HP_0012795		
MONDO:0025425	biolink:Disease	hepatitis, infectious canine	A contagious disease caused by canine adenovirus (adenoviruses, canine) infecting the liver, the eye, the kidney, and other organs in dogs, other canids, and bears. Symptoms include fever; edema; vomiting; and diarrhea.	MESH:D006522	mondo.json	infectious canine Hepatitis|infectious canine Hepatitides|Hepatitides, canine infectious|Hepatitis, canine infectious|Hepatitides, infectious canine|infectious Hepatitis, canine|canine Hepatitis, infectious|infectious Hepatitides, canine|canine Hepatitides, infectious|canine infectious Hepatitis|canine infectious Hepatitides	http://purl.obolibrary.org/obo/MONDO_0025425	http://identifiers.org/mesh/D006522	
MONDO:0001479	biolink:Disease	cutaneous diphtheria	A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla.	SCTID:18901009|UMLS:C0012555|DOID:12275|ICD9:032.85|EFO:1000683|NCIT:C34544|ICD10CM:A36.3	mondo.json	cutaneous diphtheria	http://purl.obolibrary.org/obo/MONDO_0001479	NCIT:C34544|UMLS:C0012555|http://identifiers.org/snomedct/18901009|http://purl.bioontology.org/ontology/ICD10CM/A36.3|DOID:12275	
UBERON:0010070	biolink:AnatomicalEntity	intermediate layer of tympanic membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010070		
MONDO:0001478	biolink:Disease	anisometropia	A condition of an inequality of refractive power of the two eyes.	ICD9:367.31|DOID:12273|HP:0012803|UMLS:C0003081|MESH:D015858|ICD10CM:H52.31|CSP:1116-1678|SCTID:3289004	mondo.json	anisometropia|anisometropia (disease)	http://purl.obolibrary.org/obo/MONDO_0001478	http://identifiers.org/mesh/D015858|DOID:12273|http://identifiers.org/snomedct/3289004|UMLS:C0003081|http://purl.bioontology.org/ontology/ICD10CM/H52.31	
HGNC:26648	biolink:NamedThing	BBS12			mondo.json		http://identifiers.org/hgnc/26648		
UBERON:0010071	biolink:AnatomicalEntity	layer of tympanic membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010071		
UBERON:0010077	biolink:AnatomicalEntity	cuboidal epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010077		
UBERON:0010074	biolink:AnatomicalEntity	chromaffin system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010074		
MONDO:0013439	biolink:Disease	congenital bile acid synthesis defect 3	Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease.	MESH:C566340|UMLS:C4304715|UMLS:C3151147|OMIM:613812|Orphanet:79302|DOID:0111070|SCTID:719454003	mondo.json	CBAS3|oxysterol 7-alpha-hydroxylase deficiency|congenital bile acid synthesis defect caused by mutation in CYP7B1|congenital bile acid synthesis defect type 3|bile acid synthesis defect, congenital, type 3|bile acid synthesis defect, congenital, 3|CYP7B1 congenital bile acid synthesis defect|BASD3	http://purl.obolibrary.org/obo/MONDO_0013439	https://omim.org/entry/613812|http://identifiers.org/mesh/C566340|UMLS:C3151147|DOID:0111070|UMLS:C4304715|Orphanet:79302|http://identifiers.org/snomedct/719454003	ordo_disease
UBERON:0010075	biolink:AnatomicalEntity	sacral neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010075		
CHEBI:64577	biolink:ChemicalSubstance	flour treatment agent	A food additive which is added to flour or dough to improve baking quality and/or colour.		mondo.json	improving agent|improving agents|flour treatment agent|dough improvers|dough improver	http://purl.obolibrary.org/obo/CHEBI_64577		
NCBITaxon:543769	biolink:OrganismalEntity	Rhizaria		GC_ID:1|PMID:30257078	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_543769		
MONDO:0001473	biolink:Disease	medulloadrenal hyperfunction		SCTID:111565003|DOID:12257|ICD9:255.6|UMLS:C0154206	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001473	DOID:12257|UMLS:C0154206|http://identifiers.org/snomedct/111565003	
MONDO:0001472	biolink:Disease	testicular lymphoma	A lymphoma that arises from the testis and is not associated with lymphoma in another anatomic site.	UMLS:C0349644|SCTID:277664004|ONCOTREE:TLYM|ICD9:186.9|DOID:12253|NCIT:C6810	mondo.json	testicular lymphoma|primary testicular lymphoma|TLYM|lymphoma of testis|malignant lymphoma of testis|lymphoma of the testis	http://purl.obolibrary.org/obo/MONDO_0001472	http://identifiers.org/snomedct/277664004|DOID:12253|UMLS:C0349644|NCIT:C6810	
MONDO:0025420	biolink:Disease	gastroenteritis, transmissible, of swine	A condition of chronic gastroenteritis in adult pigs and fatal gastroenteritis in piglets caused by a coronavirus.	MESH:D005761|UMLS:C0017162	mondo.json	porcine Gastroenteritides, transmissible|transmissible Gastroenteritides, swine|Gastroenteritides, porcine transmissible|Gastroenteritides, transmissible porcine|gastroenteritis, transmissible porcine|porcine gastroenteritis, transmissible|transmissible gastroenteritis, swine|gastroenteritis, porcine transmissible|porcine transmissible gastroenteritis|transmissible porcine gastroenteritis|transmissible porcine Gastroenteritides|Gastroenteritides, swine transmissible|porcine transmissible Gastroenteritides|gastroenteritis, swine transmissible|transmissible gastroenteritis of swine|swine transmissible gastroenteritis|swine transmissible Gastroenteritides|transmissible Gastroenteritides, porcine|transmissible gastroenteritis, porcine|gastroenteritis, transmissible, porcine	http://purl.obolibrary.org/obo/MONDO_0025420	UMLS:C0017162|http://identifiers.org/mesh/D005761	
MONDO:0001471	biolink:Disease	histoplasmosis meningitis	An infectious meningitis caused by infection with Histoplasma capsulatum.	ICD9:115.91|DOID:12246	mondo.json	Histoplasma capsulatum caused infectious meningitis|histoplasmosis with meningitis|Histoplasma capsulatum infectious meningitis	http://purl.obolibrary.org/obo/MONDO_0001471	DOID:12246	
MONDO:0001470	biolink:Disease	anal margin squamous cell carcinoma	A squamous cell carcinoma arising from the perianal skin.	NCIT:C6925|ICD9:173.5|DOID:12239|SCTID:255084004|UMLS:C1412037	mondo.json	anal margin squamous cell carcinoma|squamous cell carcinoma of the anal margin|perianal skin squamous cell carcinoma|squamous cell carcinoma of anal margin	http://purl.obolibrary.org/obo/MONDO_0001470	DOID:12239|http://identifiers.org/snomedct/255084004|NCIT:C6925|UMLS:C1412037	
MONDO:0013444	biolink:Disease	nephronophthisis 9	Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene.	DOID:0111120|OMIM:613824|UMLS:C3151188	mondo.json	nephronophthisis type 9|NEK8 nephronophthisis (disease)|NPHP9|nephronophthisis (disease) caused by mutation in NEK8|nephronophthisis 9	http://purl.obolibrary.org/obo/MONDO_0013444	https://omim.org/entry/613824|UMLS:C3151188|DOID:0111120	
MONDO:0013445	biolink:Disease	complement component 9 deficiency	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene.	DOID:0060303|OMIM:613825|UMLS:C3151189|MESH:C565165	mondo.json	C9 classic complement early component deficiency|C9 deficiency|complement component 9 deficiency|C9D|classic complement early component deficiency caused by mutation in C9	http://purl.obolibrary.org/obo/MONDO_0013445	https://omim.org/entry/613825|UMLS:C3151189|http://identifiers.org/mesh/C565165|DOID:0060303	
MONDO:0013442	biolink:Disease	nephronophthisis 12	Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene.	OMIM:613820|UMLS:C3151186|DOID:0111119	mondo.json	nephronophthisis (disease) caused by mutation in TTC21B|TTC21B nephronophthisis (disease)|NPHP12|nephronophthisis type 12|Joubert syndrome 11|nephronophthisis 12	http://purl.obolibrary.org/obo/MONDO_0013442	UMLS:C3151186|DOID:0111119|https://omim.org/entry/613820	clingen
MONDO:0013443	biolink:Disease	Seckel syndrome 5	Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene.	OMIM:613823|DOID:0070012|UMLS:C3151187	mondo.json	SCKL5|CEP152 Seckel syndrome|Seckel syndrome type 5|Seckel syndrome caused by mutation in CEP152|Seckel syndrome 5	http://purl.obolibrary.org/obo/MONDO_0013443	https://omim.org/entry/613823|UMLS:C3151187|DOID:0070012	
MONDO:0013448	biolink:Disease	generalized epilepsy with febrile seizures plus, type 8		OMIM:613828|DOID:0111299|UMLS:C3151191	mondo.json	GEFSP8|Gefs+, type 8|generalized epilepsy with febrile seizures plus, type 8	http://purl.obolibrary.org/obo/MONDO_0013448	https://omim.org/entry/613828|UMLS:C3151191|DOID:0111299	
MONDO:0013449	biolink:Disease	Leber congenital amaurosis 7	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRX gene.	DOID:0110333|ICD10CM:H35.5|OMIM:613829|UMLS:C3151192|GARD:0010880	mondo.json	Leber congenital amaurosis type 7|LCA7|Leber congenital amaurosis 7|CRX Leber congenital amaurosis|Leber congenital amaurosis caused by mutation in CRX	http://purl.obolibrary.org/obo/MONDO_0013449	https://omim.org/entry/613829|UMLS:C3151192|DOID:0110333	gard_rare
HGNC:12009	biolink:NamedThing	TPI1			mondo.json		http://identifiers.org/hgnc/12009		
MONDO:0013446	biolink:Disease	Leber congenital amaurosis 6	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene.	GARD:0010490|MESH:C565327|HGNC:13436|DOID:0110329|ICD10CM:H35.5|OMIM:613826	mondo.json	Leber congenital amaurosis caused by mutation in RPGRIP1|Leber congenital amaurosis 6|Leber congenital amaurosis type 6|LCA6|RPGRIP1 Leber congenital amaurosis	http://purl.obolibrary.org/obo/MONDO_0013446	https://omim.org/entry/613826|http://identifiers.org/mesh/C565327|DOID:0110329	gard_rare
MONDO:0013447	biolink:Disease	retinitis pigmentosa 48	Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene.	DOID:0110382|ICD10CM:H35.5|UMLS:C3151190|OMIM:613827	mondo.json	GUCA1B retinitis pigmentosa|RP48|retinitis pigmentosa caused by mutation in GUCA1B|retinitis pigmentosa type 48|retinitis pigmentosa 48	http://purl.obolibrary.org/obo/MONDO_0013447	https://omim.org/entry/613827|UMLS:C3151190|DOID:0110382	
MONDO:0025419	biolink:Disease	furunculosis	A persistent skin infection marked by the presence of furuncles, often chronic and recurrent. In humans, the causative agent is various species of staphylococcus. In salmonid fish (salmonids), the pathogen is aeromonas salmonicida.	NCIT:C34629|MESH:D005667	mondo.json	boils|Furuncles|Furunculoses|furuncle	http://purl.obolibrary.org/obo/MONDO_0025419	http://identifiers.org/mesh/D005667|NCIT:C34629	
MONDO:0013440	biolink:Disease	autosomal recessive limb-girdle muscular dystrophy type 2P	Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.	Orphanet:280333|UMLS:C3151184|DOID:0110293|OMIM:613818|GARD:0012541	mondo.json	limb-girdle muscular dystrophy type 2P|muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related|MDDGC9|muscular dystrophy-dystroglycanopathy (limb-girdle) type C9|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9|LGMD2P|DAG1 autosomal recessive limb-girdle muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1|muscular dystrophy-dystroglycanopathy, limb-girdle, Dag1-related|muscular dystrophy, limb-girdle, type 2P	http://purl.obolibrary.org/obo/MONDO_0013440	UMLS:C3151184|DOID:0110293|Orphanet:280333|https://omim.org/entry/613818	ordo_disease
MONDO:0013441	biolink:Disease	asphyxiating thoracic dystrophy 4	An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.	DOID:0110088|OMIM:613819|UMLS:C3151185	mondo.json	short-rib thoracic dysplasia 4 with or without polydactyly|SRTD4|ATD4|asphyxiating thoracic dystrophy type 4|asphyxiating thoracic dystrophy 4	http://purl.obolibrary.org/obo/MONDO_0013441	UMLS:C3151185|DOID:0110088|https://omim.org/entry/613819	
NCBITaxon:11146	biolink:OrganismalEntity	Porcine respiratory coronavirus		GC_ID:1	mondo.json	porcine respiratory coronavirus PRCV|porcine respiratory virus	http://purl.obolibrary.org/obo/NCBITaxon_11146		
ENVO:01000355	biolink:NamedThing	vegetation layer	A layer which is determined by a form of vegetation.		mondo.json	forest layer|woodland layer|forest stratum|woodland stratum	http://purl.obolibrary.org/obo/ENVO_01000355		
NCBITaxon:11149	biolink:OrganismalEntity	Transmissible gastroenteritis virus		GC_ID:1	mondo.json	Porcine transmissable gastroenteritis coronavirus|transmissible gastroenteritis virus TGEV|transmissible gastroenteritis coronavirus|Porcine transmissible gastroenteritis coronavirus|TGEV|porcine transmissible gastroenteritis virus	http://purl.obolibrary.org/obo/NCBITaxon_11149		
MONDO:0025491	biolink:Disease	feline infectious peritonitis	Common coronavirus infection of cats caused by the feline infectious peritonitis virus (coronavirus, feline). The disease is characterized by a long incubation period, fever, depression, loss of appetite, wasting, and progressive abdominal enlargement. Infection of cells of the monocyte-macrophage lineage appears to be essential in FIP pathogenesis.	MESH:D016766|UMLS:C0085306	mondo.json	feline infectious peritonitides|peritonitis, infectious, feline|infectious peritonitis, feline|infectious peritonitides, feline|peritonitis, feline infectious|FIP	http://purl.obolibrary.org/obo/MONDO_0025491	http://identifiers.org/mesh/D016766|UMLS:C0085306	
MONDO:0025494	biolink:Disease	porcine reproductive and respiratory syndrome	A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by porcine respiratory and reproductive syndrome virus. (Radostits et al., Veterinary Medicine, 8th ed, p1048)	UMLS:C0376538|MESH:D019318	mondo.json	porcine epidemic abortion and respiratory syndrome|pig disease, blue-eared|swine infertility and respiratory syndrome|swine disease, mystery|PRRS|blue-eared pig disease|blue eared pig disease|mystery swine disease	http://purl.obolibrary.org/obo/MONDO_0025494	UMLS:C0376538|http://identifiers.org/mesh/D019318	
HGNC:14637	biolink:NamedThing	ABCA12			mondo.json		http://identifiers.org/hgnc/14637		
HGNC:14632	biolink:NamedThing	ADAMTSL1			mondo.json		http://identifiers.org/hgnc/14632		
HGNC:14630	biolink:NamedThing	CRELD1			mondo.json		http://identifiers.org/hgnc/14630		
HGNC:14631	biolink:NamedThing	ADAMTSL2			mondo.json		http://identifiers.org/hgnc/14631		
MONDO:0025488	biolink:Disease	leukemia, feline	A neoplastic disease of cats frequently associated with feline leukemia virus infection.	MESH:D016582|UMLS:C0085164	mondo.json	Feline leukemia|leukemias, Feline|Feline leukemias	http://purl.obolibrary.org/obo/MONDO_0025488	http://identifiers.org/mesh/D016582|UMLS:C0085164	
NCBITaxon:11155	biolink:OrganismalEntity	Torovirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_11155		
MONDO:0025487	biolink:Disease	murine acquired immunodeficiency syndrome	Acquired defect of cellular immunity that occurs in mice infected with mouse leukemia viruses (Mulv). The syndrome shows striking similarities with human aids and is characterized by lymphadenopathy, profound immunosuppression, enhanced susceptibility to opportunistic infections, and B-cell lymphomas.	MESH:D016183	mondo.json	murine acquired immuno deficiency syndrome|MAIDS|murine acquired immune deficiency syndrome|murine AIDSs|murine AIDS|AIDS, murine|murine acquired immuno-deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0025487	http://identifiers.org/mesh/D016183	
HGNC:26624	biolink:NamedThing	KDF1			mondo.json		http://identifiers.org/hgnc/26624		
NCBITaxon:11157	biolink:OrganismalEntity	Mononegavirales		GC_ID:1	mondo.json	negative-sense genome single-stranded RNA viruses	http://purl.obolibrary.org/obo/NCBITaxon_11157		
MONDO:0025489	biolink:Disease	enzootic bovine leukosis	A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding.	MESH:D016583|EFO:1001315	mondo.json	bovine lymphoma|bovine lymphosarcoma|lymphomas, bovine|lymphosarcomas, bovine|leukemias, bovine|bovine Lymphosarcomas|bovine Lymphomas|leukoses, bovine|bovine Leukoses, enzootic|bovine leukemias|leukemia, bovine|bovine Leukoses|leukosis, enzootic bovine|lymphosarcoma, bovine|bovine leukemia|leukosis, bovine|enzootic bovine Leukoses|bovine leukosis, enzootic|lymphoma, bovine|bovine leukosis|leukoses, enzootic bovine	http://purl.obolibrary.org/obo/MONDO_0025489	http://identifiers.org/mesh/D016583	
NCBITaxon:11158	biolink:OrganismalEntity	Paramyxoviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_11158		
ENVO:01000343	biolink:NamedThing	altitudinal condition	An altitudinal condition is an environmental condition in which ranges of factors such as temperature, humidity, soil composition, solar irradiation, and tree density vary with ranges in altitude.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000343		
OBO:ECTO_7000119	biolink:NamedThing	exposure to contaminated water	A exposure event involving the interaction of an exposure receptor to contaminated water.		mondo.json	contaminated water exposure	http://purl.obolibrary.org/obo/ECTO_7000119		
GO:1904803	biolink:NamedThing	regulation of translation involved in cellular response to UV	Any regulation of translation that is involved in cellular response to UV.		mondo.json	regulation of protein biosynthesis involved in cellular response to UV|regulation of translation involved in cellular response to ultraviolet radiation stimulus|regulation of protein anabolism involved in cellular response to UV|regulation of translation involved in cellular response to ultraviolet light stimulus|regulation of translation involved in cellular response to UV radiation stimulus|regulation of protein synthesis involved in cellular response to UV|regulation of protein formation involved in cellular response to UV|regulation of translation involved in cellular response to UV light stimulus	http://purl.obolibrary.org/obo/GO_1904803		
CHR:9606-chr3q13	biolink:NamedThing	3q13 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr3q13		
OBO:ECTO_7000114	biolink:NamedThing	exposure to aerosol	A exposure event involving the interaction of an exposure receptor to aerosol.		mondo.json	aerosol exposure	http://purl.obolibrary.org/obo/ECTO_7000114		
MONDO:0025481	biolink:Disease	zoonosis	An infectious disease of non-human animals that may be transmitted to humans or may be transmitted from humans to non-human animals, caused by a pathogen (an infectious agent, including bacteria, viruses, parasites, prions, etc).	NCIT:C35803|Wikipedia:Zoonosis|MESH:D015047|UMLS:C0043528	mondo.json	infectious diseases, zoonotic|zoonotic infection|disease, zoonotic|zoonoses|zoonotic infectious disease|zoonotic infections|zoonotic infectious diseases|diseases, zoonotic|infectious disease, zoonotic|zoonotic disease|diseases, zoonotic infectious|infection, zoonotic|zoonotic diseases|infections, zoonotic|disease, zoonotic infectious	http://purl.obolibrary.org/obo/MONDO_0025481	http://identifiers.org/mesh/D015047|UMLS:C0043528|NCIT:C35803	
MONDO:0025484	biolink:Disease	simian acquired immunodeficiency syndrome	Acquired defect of cellular immunity that occurs naturally in macaques infected with srv serotypes, experimentally in monkeys inoculated with srv or mason-pfizer monkey virus; (mpmv), or in monkeys infected with simian immunodeficiency virus.	MESH:D016097|UMLS:C0080151	mondo.json	AIDSs, Simian|Simian immunodeficiency virus monkey disease|Simian acquired immune deficiency syndrome|Simian AIDSs|Simian immunodeficiency virus caused monkey disease|AIDS, Simian|Simian acquired immuno-deficiency syndrome|Simian AIDS|Simian acquired immuno deficiency syndrome|SAIDS	http://purl.obolibrary.org/obo/MONDO_0025484	UMLS:C0080151|http://identifiers.org/mesh/D016097	
MONDO:0025483	biolink:Disease	mammary neoplasms, animal	Tumors or cancer of the mammary gland in animals (mammary glands, animal).	MESH:D015674	mondo.json	animal mammary carcinomas|neoplasms, mammary|mammary neoplasm|carcinoma, animal mammary|mammary neoplasm, animal|mammary carcinoma, animal|mammary neoplasms|neoplasms, animal mammary|mammary carcinomas, animal|animal mammary carcinoma|animal mammary neoplasms|neoplasm, animal mammary|neoplasm, mammary|carcinomas, animal mammary|animal mammary neoplasm	http://purl.obolibrary.org/obo/MONDO_0025483	http://identifiers.org/mesh/D015674	
MONDO:0025485	biolink:Disease	feline acquired immunodeficiency syndrome	Acquired defect of cellular immunity that occurs in cats infected with feline immunodeficiency virus (fiv) and in some cats infected with feline leukemia virus (Felv).	MESH:D016181|UMLS:C0079335	mondo.json	Feline acquired immuno-deficiency syndrome|FAIDS|Feline immunodeficiency virus caused cat disease|Feline acquired immuno deficiency syndrome|Feline AIDS|Feline immunodeficiency virus cat disease|Feline acquired immune deficiency syndrome|AIDS, Feline	http://purl.obolibrary.org/obo/MONDO_0025485	http://identifiers.org/mesh/D016181|UMLS:C0079335	
ENVO:01000340	biolink:NamedThing	alpine	An altitudinal condition which inheres in a bearer by virtue of the bearer having a monthly mean temperature is less than 10 degrees Celsius and being located at altitudes above the tree line and below the snowline.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000340		
ENVO:01000342	biolink:NamedThing	montane	An altitudinal condition which inheres in a bearer by virtue of the bearer being located at an altitude between mid-altitude forests and the tree line.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000342		
NCBITaxon:11152	biolink:OrganismalEntity	Turkey coronavirus		GC_ID:1	mondo.json	TCV|Turkey enteric coronavirus	http://purl.obolibrary.org/obo/NCBITaxon_11152		
MONDO:0025478	biolink:Disease	venereal tumors, veterinary	Tumors most commonly seen on or near the genitalia. They are venereal, most likely transmitted through transplantation of cells by contact. Metastases have been reported. Spontaneous regression may occur.	MESH:D014685|UMLS:C0042465	mondo.json	tumors, veterinary venereal|venereal tumor, veterinary|transmissible venereal tumors|tumors, transmissible venereal|veterinary venereal tumor|venereal tumors, transmissible|tumor, transmissible venereal|veterinary venereal tumors|tumor, veterinary venereal|venereal tumor, transmissible|transmissible venereal tumor	http://purl.obolibrary.org/obo/MONDO_0025478	UMLS:C0042465|http://identifiers.org/mesh/D014685	
OBO:ECTO_7000122	biolink:NamedThing	exposure to sea water	A exposure event involving the interaction of an exposure receptor to sea water.		mondo.json	sea water exposure	http://purl.obolibrary.org/obo/ECTO_7000122		
MONDO:0013499	biolink:Disease	Fanconi anemia complementation group P	Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.	DOID:0111092|OMIM:613951	mondo.json	SLX4 Fanconi anemia|Slx4 Fanconi anemia|Fanconi anemia complementation group type P|Fanconi anemia caused by mutation in Slx4|Fanconi anemia caused by mutation in SLX4|Fanconi anemia, complementation group P|FANCP|Fanconi Anemia, complementation group type P	http://purl.obolibrary.org/obo/MONDO_0013499	https://omim.org/entry/613951|DOID:0111092	
MONDO:0013497	biolink:Disease	Okt4 epitope deficiency		UMLS:C3151379|OMIM:613949	mondo.json	T4 epitope deficiency|Okt4 epitope deficiency	http://purl.obolibrary.org/obo/MONDO_0013497	https://omim.org/entry/613949|UMLS:C3151379	
MONDO:0013498	biolink:Disease	schizophrenia 15	A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33.	UMLS:C3151380|OMIM:613950|DOID:0070091	mondo.json	schizophrenia 15 with or without an affective disorder|schizophrenia susceptibility locus, chromosome 22Q13-related|SCZD15|schizophrenia 15|schizophrenia type 15	http://purl.obolibrary.org/obo/MONDO_0013498	DOID:0070091|https://omim.org/entry/613950|UMLS:C3151380	
MONDO:0013491	biolink:Disease	megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability		UMLS:C3151356|DOID:0080317|OMIM:613926	mondo.json	MLC2B|megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation|megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability	http://purl.obolibrary.org/obo/MONDO_0013491	https://omim.org/entry/613926|DOID:0080317|UMLS:C3151356	
MONDO:0013492	biolink:Disease	alopecia-intellectual disability syndrome 3		OMIM:613930|UMLS:C3151362	mondo.json	APMR3|alopecia-intellectual disability syndrome 3|alopecia-mental retardation syndrome 3	http://purl.obolibrary.org/obo/MONDO_0013492	https://omim.org/entry/613930|UMLS:C3151362	
MONDO:0013490	biolink:Disease	megalencephalic leukoencephalopathy with subcortical cysts 2A		DOID:0080318|OMIM:613925|UMLS:C3151355	mondo.json	MLC2A|megalencephalic leukoencephalopathy with subcortical cysts type 2A|megalencephalic leukoencephalopathy with subcortical cysts 2A	http://purl.obolibrary.org/obo/MONDO_0013490	https://omim.org/entry/613925|DOID:0080318|UMLS:C3151355	
MONDO:0013495	biolink:Disease	autosomal recessive congenital ichthyosis 8	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the LIPN gene.	DOID:0060717|OMIM:613943	mondo.json	lamellar ichthyosis 4|ichthyosis, lamellar, 4|lamellar ichthyosis, late-onset|ichthyosis, congenital, autosomal recessive 8|late-onset lamellar ichthyosis|ARCI8|autosomal recessive congenital ichthyosis type 8|ichthyosis, lamellar, 4, formerly|ichthyosis, congenital, autosomal recessive type 8	http://purl.obolibrary.org/obo/MONDO_0013495	DOID:0060717|https://omim.org/entry/613943	
MONDO:0013496	biolink:Disease	IgA nephropathy, susceptibility to, 2		OMIM:613944	mondo.json	IGAN2|IgA nephropathy, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0013496	https://omim.org/entry/613944	predisposition
MONDO:0013493	biolink:Disease	acetyl-coa carboxylase deficiency		UMLS:C0268603|MESH:C562678|OMIM:613933	mondo.json	Acc1 deficiency|ACACAD|ACETYL-CoA carboxylase deficiency|Acaca deficiency	http://purl.obolibrary.org/obo/MONDO_0013493	http://identifiers.org/mesh/C562678|https://omim.org/entry/613933|UMLS:C0268603	
CL:0000381	biolink:Cell	neurosecretory neuron		FBbt:00005130	mondo.json		http://purl.obolibrary.org/obo/CL_0000381		
MONDO:0013494	biolink:Disease	obsolete PSMNSW			mondo.json		http://purl.obolibrary.org/obo/MONDO_0013494		
NCBITaxon:11135	biolink:OrganismalEntity	Feline infectious peritonitis virus		GC_ID:1	mondo.json	FIPV	http://purl.obolibrary.org/obo/NCBITaxon_11135		
HGNC:26600	biolink:NamedThing	WDR81			mondo.json		http://identifiers.org/hgnc/26600		
MONDO:0013488	biolink:Disease	lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis		UMLS:C3151347|OMIM:613913	mondo.json	APLDC3|lipodystrophy, partial, acquired, associated with C3 nephritic Factor|lipodystrophy, partial, acquired, with LOW complement component C3, with or without glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0013488	UMLS:C3151347|https://omim.org/entry/613913	
MONDO:0013489	biolink:Disease	autosomal recessive nonsyndromic hearing loss 89	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene.	DOID:0110534|OMIM:613916|UMLS:C3151351	mondo.json	autosomal recessive nonsyndromic deafness 89|autosomal recessive nonsyndromic deafness type 89|autosomal recessive deafness 89|deafness, autosomal recessive 89|autosomal recessive nonsyndromic deafness caused by mutation in KARS|DFNB89|KARS autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 89	http://purl.obolibrary.org/obo/MONDO_0013489	UMLS:C3151351|DOID:0110534|https://omim.org/entry/613916	clingen
MONDO:0013486	biolink:Disease	spinocerebellar ataxia type 32	Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, cognitive impairment and azoospermia in males.	SCTID:719254001|OMIM:613909|UMLS:C4304844|Orphanet:276183|UMLS:C3151343	mondo.json	SCA32|spinocerebellar ataxia 32|cerebellar ataxia with azoospermia and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0013486	UMLS:C3151343|Orphanet:276183|http://identifiers.org/snomedct/719254001|https://omim.org/entry/613909	ordo_disease
MONDO:0013487	biolink:Disease	recurrent Neisseria infections due to factor D deficiency		UMLS:C0398764|MESH:C565027|SCTID:234607008|ICD9:279.8|OMIM:613912|Orphanet:169467	mondo.json	CFDD|recurrent Neisseria infections due to factor D deficiency|complement factor D deficiency|factor D deficiency	http://purl.obolibrary.org/obo/MONDO_0013487	http://identifiers.org/mesh/C565027|UMLS:C0398764|http://identifiers.org/snomedct/234607008|Orphanet:169467|https://omim.org/entry/613912	ordo_disease
HGNC:14628	biolink:NamedThing	CDCA7			mondo.json		http://identifiers.org/hgnc/14628		
MONDO:0013480	biolink:Disease	renal hypomagnesemia 6		GARD:0012155|UMLS:C3151295|OMIM:613882|DOID:0060884	mondo.json	HOMG6|hypomagnesemia 6, renal|renal hypomagnesemia-6|renal hypomagnesemia type 6	http://purl.obolibrary.org/obo/MONDO_0013480	DOID:0060884|https://omim.org/entry/613882|UMLS:C3151295	gard_rare
MONDO:0013481	biolink:Disease	chromosome 13q14 deletion syndrome	Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.	MESH:C535484|NCIT:C36421|OMIM:613884|DOID:0060391|Orphanet:1587	mondo.json	chromosome 13q14 deletion syndrome|chromosome 13q14 deletion syndrome, isolated cases|monosomy type 13q14|monosomy 13q14|chromosome 13Q deletion syndrome|deletion 13q14|del(13q14)|Del(13)(q14)	http://purl.obolibrary.org/obo/MONDO_0013481	DOID:0060391|https://omim.org/entry/613884|NCIT:C36421|Orphanet:1587	ordo_malformation_syndrome
MONDO:0013484	biolink:Disease	cataract 36	Any cataract in which the cause of the disease is a mutation in the TDRD7 gene.	DOID:0110247|UMLS:C3151304|OMIM:613887	mondo.json	cataract type 36|cataract 36|cataract (disease) caused by mutation in TDRD7|cataract, autosomal recessive congenital 4|autosomal recessive congenital cataract 4|TDRD7 cataract (disease)|CTRCT36|CATC4	http://purl.obolibrary.org/obo/MONDO_0013484	DOID:0110247|https://omim.org/entry/613887|UMLS:C3151304	
MONDO:0013485	biolink:Disease	spinocerebellar ataxia type 35	Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis.	UMLS:CN202597|GARD:0012366|DOID:0050982|OMIM:613908|SCTID:719300001|UMLS:C4304822|Orphanet:276193	mondo.json	SCA35|spinocerebellar ataxia 35|spinocerebellar ataxia type 35	http://purl.obolibrary.org/obo/MONDO_0013485	DOID:0050982|Orphanet:276193|https://omim.org/entry/613908|http://identifiers.org/snomedct/719300001|UMLS:CN202597	ordo_disease
MONDO:0013482	biolink:Disease	Meckel syndrome, type 8	Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene.	DOID:0070122|UMLS:C3836857|Orphanet:90674|OMIM:613885	mondo.json	Meckel syndrome 8|Meckel syndrome caused by mutation in TCTN2|Meckel-Gruber syndrome, type 8|MKS8|Meckel syndrome, type 8|TCTN2 Meckel syndrome	http://purl.obolibrary.org/obo/MONDO_0013482	DOID:0070122|https://omim.org/entry/613885|UMLS:C3836857	
CHEBI:132153	biolink:ChemicalSubstance	hyaluronate	A carbohydrate acid derivative anion obtained by deprotonation of the carboxy groups of hyaluronic acid; major species at pH 7.3.		mondo.json	hyaluronate polyanion|hyaluronan	http://purl.obolibrary.org/obo/CHEBI_132153		
CL:0000393	biolink:Cell	electrically responsive cell	A cell whose function is determined by its response to an electric signal.		mondo.json		http://purl.obolibrary.org/obo/CL_0000393		
MONDO:0013483	biolink:Disease	obesity, hyperphagia, and developmental delay		MESH:C563938|UMLS:C3151303|OMIM:613886	mondo.json	OBHD|obesity, hyperphagia, and developmental delay	http://purl.obolibrary.org/obo/MONDO_0013483	http://identifiers.org/mesh/C563938|https://omim.org/entry/613886|UMLS:C3151303	
MONDO:0003942	biolink:Disease	eosinophilic variant of chromophobe renal cell carcinoma		UMLS:C1333405|NCIT:C27889|DOID:6606	mondo.json	eosinophilic variant of chromophobe renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003942	NCIT:C27889|UMLS:C1333405|DOID:6606	
MONDO:0003943	biolink:Disease	central nervous system hibernoma	A rare benign slow growing adipose tumor, characterized by the presence of polygonal brown fat cells with abundant cytoplasm, that arises within the nervous system.	UMLS:C1708362|DOID:6607|NCIT:C6997	mondo.json	hibernoma of central nervous system|hibernoma of the central nervous system|central nervous system hibernoma|nervous system hibernoma|hibernoma of nervous system	http://purl.obolibrary.org/obo/MONDO_0003943	NCIT:C6997|DOID:6607|UMLS:C1708362	
MONDO:0003944	biolink:Disease	endobronchial leiomyoma	A benign smooth muscle neoplasm arising endobronchially. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	NCIT:C5661|UMLS:C1333386|DOID:6608	mondo.json	bronchus lung leiomyoma|lung leiomyoma of bronchus|endobronchial leiomyoma	http://purl.obolibrary.org/obo/MONDO_0003944	NCIT:C5661|UMLS:C1333386|DOID:6608	
MONDO:0003945	biolink:Disease	bone epithelioid hemangioma	A locally aggressive hemangioma that arises from the bone. It is characterized by the presence of epithelioid endothelial cells.	EFO:1000132|DOID:6610|UMLS:C1332578|UMLS:C1332575|NCIT:C5396	mondo.json	bone hemangioma|osseous epithelioid hemangioma|epithelioid angioma of bone|epithelioid angioma of the bone|osseous hemangioma|epithelioid hemangioma of bone|epithelioid hemangioma of the bone|bone epithelioid hemangioma|osseous epithelioid angioma|hemangioma of bone|bone epithelioid angioma	http://purl.obolibrary.org/obo/MONDO_0003945	NCIT:C5396|DOID:6610|UMLS:C1332575|UMLS:C1332578	
MONDO:0003940	biolink:Disease	Kummell disease	A disease that presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury.	UMLS:C0152088|SCTID:111232005|ICD9:721.7|DOID:6603|ICD10CM:M48.3	mondo.json	traumatic spondylopathy|bony vertebral centrum osteonecrosis|Kummell's disease|Kummell's spondylitis|avascular necrosis of a vertebral body|Kummell disease|osteonecrosis of bony vertebral centrum	http://purl.obolibrary.org/obo/MONDO_0003940	UMLS:C0152088|DOID:6603|http://purl.bioontology.org/ontology/ICD10CM/M48.3|http://identifiers.org/snomedct/111232005	
MONDO:0003941	biolink:Disease	classic variant of chromophobe renal cell carcinoma		NCIT:C27888|DOID:6605|UMLS:C1333062	mondo.json	classic variant of chromophobe renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003941	NCIT:C27888|UMLS:C1333062|DOID:6605	
MONDO:0015928	biolink:Disease	obsolete secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease		Orphanet:182104|UMLS:CN200522	mondo.json	secondary ILD in childhood and adulthood associated with a connective tissue disease|CTD-ILD	http://purl.obolibrary.org/obo/MONDO_0015928	UMLS:CN200522|Orphanet:182104	ordo_group_of_disorders
HP:0000998	biolink:PhenotypicFeature	Hypertrichosis	Hypertrichosis is increased hair growth that is abnormal in quantity or location.	UMLS:C0020555|SNOMEDCT_US:29966009|MSH:D006983|SNOMEDCT_US:271607001	mondo.json	Excessive hair growth|Increased hair growth on body	http://purl.obolibrary.org/obo/HP_0000998		
MONDO:0015927	biolink:Disease	idiopathic eosinophilic pneumonia		SCTID:708031000|UMLS:C3872845|Orphanet:182101	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015927	http://identifiers.org/snomedct/708031000|UMLS:C3872845|Orphanet:182101	ordo_group_of_disorders|disease_grouping
UBERON:0010143	biolink:AnatomicalEntity	seminal vesicle fluid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010143		
MONDO:0015926	biolink:Disease	pneumoconiosis	An occupational lung disorder caused by inhalation of dust particles. It is characterized by bilateral interstitial lung infiltrates. Representative examples include asbestosis, silicosis, anthracosis, and talc pneumoconiosis.	Orphanet:182098|MedDRA:10035653|DOID:10316|MESH:D011009|SCTID:40122008|NCIT:C26861|UMLS:C0032273|GARD:0008356|ICD9:505	mondo.json	Black lung disease|coal worker's pneumoconiosis	http://purl.obolibrary.org/obo/MONDO_0015926	http://identifiers.org/mesh/D011009|DOID:10316|NCIT:C26861|UMLS:C0032273|Orphanet:182098|http://identifiers.org/snomedct/40122008	ordo_group_of_disorders|disease_grouping
MONDO:0015925	biolink:Disease	interstitial lung disease	A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features.	GARD:0013336|UMLS:C0206062|Orphanet:182095|EFO:0004244|ICD10CM:J80-J84|SCTID:233703007|DOID:3082|MESH:D017563|OMIM:616414|MedDRA:10022611	mondo.json	interstitial lung disease|ILD	http://purl.obolibrary.org/obo/MONDO_0015925	DOID:3082|http://identifiers.org/snomedct/233703007|http://identifiers.org/mesh/D017563|Orphanet:182095|http://purl.bioontology.org/ontology/ICD10CM/J80-J84|UMLS:C0206062	ordo_group_of_disorders|disease_grouping
HP:0000999	biolink:PhenotypicFeature	Pyoderma	Any manifestation of a skin disease associated with the production of pus.	MSH:D011711|SNOMEDCT_US:70759006|UMLS:C0034212	mondo.json	Pus-filled lesion	http://purl.obolibrary.org/obo/HP_0000999		
UBERON:0010141	biolink:AnatomicalEntity	primitive sex cord of indifferent gonad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010141		
UBERON:0010146	biolink:AnatomicalEntity	paraurethral duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010146		
UBERON:0010147	biolink:AnatomicalEntity	male accessory sex gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010147		
MONDO:0015929	biolink:Disease	thoracic malformation		Orphanet:182108	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015929	Orphanet:182108	disease_grouping|ordo_group_of_disorders
UBERON:0010145	biolink:AnatomicalEntity	paraurethral gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010145		
MONDO:0015931	biolink:Disease	obsolete rare urogenital tumor		UMLS:CN200523|Orphanet:182114	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015931	Orphanet:182114|UMLS:CN200523	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0015930	biolink:Disease	respiratory malformation		Orphanet:182111	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015930	Orphanet:182111	disease_grouping|ordo_group_of_disorders
HP:0000992	biolink:PhenotypicFeature	Cutaneous photosensitivity	An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.	MSH:D010787|SNOMEDCT_US:90128006|UMLS:C0349506	mondo.json	Sensitivity to sunlight|Photosensitivity|Sun sensitivity|Photosensitive skin rashes|Photosensitive skin|Skin photosensitivity	http://purl.obolibrary.org/obo/HP_0000992		hposlim_core
HGNC:7448	biolink:NamedThing	MTM1			mondo.json		http://identifiers.org/hgnc/7448		
HP:0000991	biolink:PhenotypicFeature	Xanthomatosis	The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.	UMLS:C0043325|MSH:D014973|SNOMEDCT_US:63103006	mondo.json	Yellow bumps of fatty deposits on skin|Xanthomata	http://purl.obolibrary.org/obo/HP_0000991		
NCBITaxon:50557	biolink:OrganismalEntity	Insecta		GC_ID:1	mondo.json	insects|true insects	http://purl.obolibrary.org/obo/NCBITaxon_50557		
MONDO:0015935	biolink:Disease	extragonadal germinoma		Orphanet:182127|MESH:D018237|MedDRA:10018207|UMLS:C0206660	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015935	Orphanet:182127	ordo_disease
MONDO:0015934	biolink:Disease	non-syndromic urogenital tract malformation of male and female		Orphanet:182124	mondo.json	isolated urogenital tract malformation of male and female|nonsyndromic urogenital tract malformation of male and female	http://purl.obolibrary.org/obo/MONDO_0015934	Orphanet:182124	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0015933	biolink:Disease	non-syndromic urogenital tract malformation of male	A non-syndromic urogenital tract malformation that involves the male organism.	Orphanet:182121	mondo.json	non-syndromic urogenital tract malformation of male organism|nonsyndromic urogenital tract malformation of male|male organism non-syndromic urogenital tract malformation|isolated urogenital tract malformation of male	http://purl.obolibrary.org/obo/MONDO_0015933	Orphanet:182121	disease_grouping|ordo_group_of_disorders
MONDO:0015932	biolink:Disease	non-syndromic urogenital tract malformation of female	A non-syndromic urogenital tract malformation that involves the female organism.	Orphanet:182117	mondo.json	isolated urogenital tract malformation of female|nonsyndromic urogenital tract malformation of female|female organism non-syndromic urogenital tract malformation|non-syndromic urogenital tract malformation of female organism	http://purl.obolibrary.org/obo/MONDO_0015932	Orphanet:182117	ordo_group_of_disorders|disease_grouping
MONDO:0003939	biolink:Disease	muscle tissue disorder	A disease involving the muscle tissue.	DOID:66|ICD10CM:M60-M63	mondo.json	disease or disorder of muscle tissue|disease of muscle tissue|muscle tissue disease or disorder|disorder of muscle tissue|muscle tissue disease	http://purl.obolibrary.org/obo/MONDO_0003939	http://purl.bioontology.org/ontology/ICD10CM/M60-M63|DOID:66	
MONDO:0003935	biolink:Disease	oncocytic breast carcinoma	A rare breast adenocarcinoma characterized by the presence of neoplastic oncocytic cells. The oncocytic cells comprise more than 70 percent of the malignant cellular population.	DOID:6585|NCIT:C40366|UMLS:C1518574	mondo.json	oncocytic breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0003935	UMLS:C1518574|NCIT:C40366|DOID:6585	
MONDO:0003936	biolink:Disease	invasive tubular breast carcinoma	An invasive adenocarcinoma of the breast with a favorable prognosis. It is composed of tubular structures lined by a single layer of epithelium.	UMLS:C1328544|NCIT:C9135|DOID:6587	mondo.json	invasive tubular carcinoma of the breast|invasive tubular breast carcinoma|invasive tubular carcinoma of breast|tubular carcinoma of the breast|tubular breast cancer|breast tubular adenocarcinoma|infiltrating tubular carcinoma of breast|infiltrating tubular carcinoma of the breast|tubular carcinoma of breast|infiltrating tubular breast carcinoma|tubular breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0003936	NCIT:C9135|DOID:6587|UMLS:C1328544	
MONDO:0003937	biolink:Disease	spondylitis	The inflammation of a vertebra.	MESH:D013166|ICD9:720.89|ICD9:720.8|SCTID:84172003|NCIT:C116779|DOID:6590	mondo.json	vertebra inflammation|inflammation of vertebra	http://purl.obolibrary.org/obo/MONDO_0003937	NCIT:C116779|http://identifiers.org/snomedct/84172003|http://identifiers.org/mesh/D013166|DOID:6590	
MONDO:0003938	biolink:Disease	bladder colonic type adenocarcinoma		UMLS:C1511188|DOID:6594|NCIT:C39835	mondo.json	bladder enteric type adenocarcinoma|bladder colonic type adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003938	UMLS:C1511188|NCIT:C39835|DOID:6594	
MONDO:0003953	biolink:Disease	pediatric CNS choriocarcinoma	A choriocarcinoma that arises from the central nervous system and occurs during childhood.	UMLS:C1377604|DOID:6639|NCIT:C6206	mondo.json	choriocarcinoma of the pediatric central nervous system|choriocarcinoma of the central nervous system of childhood|choriocarcinoma of pediatric central nervous system|childhood choriocarcinoma of the central nervous system|childhood CNS choriocarcinoma|childhood central nervous system choriocarcinoma|choriocarcinoma of the pediatric CNS|choriocarcinoma of pediatric CNS|pediatric central nervous system choriocarcinoma|choriocarcinoma of childhood central nervous system|choriocarcinoma of the childhood central nervous system|Central nervous system choriocarcinoma|choriocarcinoma of the childhood CNS|pediatric choriocarcinoma of the central nervous system|choriocarcinoma of childhood CNS	http://purl.obolibrary.org/obo/MONDO_0003953	UMLS:C1377604|DOID:6639|NCIT:C6206	
MONDO:0003954	biolink:Disease	angiokeratoma of Fordyce	An angiokeratoma that is located on the scrotum or vulva.	DOID:664|SCTID:6331000|UMLS:C0263639	mondo.json	Fordyce angiokeratoma|Fordyce's spot|Fordyce-type angiokeratoma of scrotum	http://purl.obolibrary.org/obo/MONDO_0003954	UMLS:C0263639|http://identifiers.org/snomedct/6331000|DOID:664	
MONDO:0003955	biolink:Disease	juvenile breast papillomatosis	A benign, usually solitary, well circumscribed multicystic neoplasm that arises from the breast and typically affects young females. The cysts are lined by papillary proliferations that contain epithelial and myoepithelial layers. In a minority of cases, atypia may be present.	DOID:6641|SCTID:708518001|NCIT:C9503|UMLS:C1334303	mondo.json	juvenile papillomatosis of breast|Swiss cheese disease|breast juvenile papillomatosis|juvenile papillomatosis of the breast|juvenile breast papillomatosis	http://purl.obolibrary.org/obo/MONDO_0003955	http://identifiers.org/snomedct/708518001|UMLS:C1334303|DOID:6641|NCIT:C9503	
MONDO:0003956	biolink:Disease	Baastrup syndrome		DOID:6643|ICD9:721.5|UMLS:C0158248|SCTID:82304009	mondo.json	Baastrup's syndrome|kissing spine|Baastrup syndrome	http://purl.obolibrary.org/obo/MONDO_0003956	DOID:6643|UMLS:C0158248|http://identifiers.org/snomedct/82304009	
MONDO:0003950	biolink:Disease	nipple carcinoma	A carcinoma that arises from epithelial cells of the nipple	DOID:6629|UMLS:C1334966|NCIT:C28432	mondo.json	nipple cancer|nipple carcinoma|carcinoma of nipple	http://purl.obolibrary.org/obo/MONDO_0003950	UMLS:C1334966|DOID:6629|NCIT:C28432	
MONDO:0003951	biolink:Disease	scrotal hemangioma	A hemangioma arising from the skin of the scrotum.	DOID:663|NCIT:C6387|UMLS:C1335936	mondo.json	scrotum hemangioma|hemangioma of scrotum|scrotal angioma|hemangioma of the scrotum|angioma of the scrotum|angioma of scrotum|scrotal hemangioma	http://purl.obolibrary.org/obo/MONDO_0003951	UMLS:C1335936|DOID:663|NCIT:C6387	
MONDO:0003952	biolink:Disease	adult central nervous system choriocarcinoma	A choriocarcinoma of the central nervous system that occurs in an adult.	NCIT:C5793|DOID:6634|UMLS:C1370505	mondo.json	central nervous system choriocarcinoma|adult choriocarcinoma of the central nervous system|choriocarcinoma of the adult CNS|choriocarcinoma of adult CNS|choriocarcinoma of adult central nervous system|choriocarcinoma of the adult central nervous system|adult CNS choriocarcinoma|choriocarcinoma of the central nervous system of adults|adult central nervous system choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003952	UMLS:C1370505|NCIT:C5793|DOID:6634	
UBERON:0009141	biolink:AnatomicalEntity	craniocervical region vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009141		
HGNC:26703	biolink:NamedThing	SYNE4			mondo.json		http://identifiers.org/hgnc/26703		
MONDO:0015917	biolink:Disease	obsolete malignant glioma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015917		
UBERON:0010131	biolink:AnatomicalEntity	conducting tissue of heart			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010131		
MONDO:0015916	biolink:Disease	obsolete rare neuroinflammatory or neuroimmunological disease		Orphanet:182064|UMLS:CN200514	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015916	UMLS:CN200514|Orphanet:182064	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0015915	biolink:Disease	cerebellar malformation		Orphanet:182061	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015915	Orphanet:182061	disease_grouping|ordo_group_of_disorders
HP:0010311	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the breasts	Absence or underdevelopment of the breasts.	UMLS:C4023911	mondo.json	Absent/small breasts|Absent/underdeveloped breasts	http://purl.obolibrary.org/obo/HP_0010311		
MONDO:0015914	biolink:Disease	primary orthostatic hypotension	Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication.	Orphanet:448426|GARD:0012959|Orphanet:182058	mondo.json	neurogenic orthostatic hypotension	http://purl.obolibrary.org/obo/MONDO_0015914	Orphanet:182058	disease_grouping|ordo_group_of_disorders|gard_rare
UBERON:0010130	biolink:AnatomicalEntity	embryonic autopod plate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010130		
UBERON:0010135	biolink:AnatomicalEntity	sensory circumventricular organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010135		
MONDO:0015919	biolink:Disease	obsolete syndromic neurometabolic disease with non-X-linked intellectual disability		Orphanet:182073|UMLS:CN200517	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015919	UMLS:CN200517|Orphanet:182073	ordo_group_of_disorders
UBERON:0010133	biolink:AnatomicalEntity	neuroendocrine gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010133		
MONDO:0015918	biolink:Disease	obsolete rare neurodegenerative disease	OBSOLETE. Rare neurodegenerative disease.	Orphanet:182070	mondo.json	rare neurodegenerative disease	http://purl.obolibrary.org/obo/MONDO_0015918	Orphanet:182070	disease_grouping|obsoletion_candidate|ordo_group_of_disorders
UBERON:0010134	biolink:AnatomicalEntity	secretory circumventricular organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010134		
MONDO:0015920	biolink:Disease	obsolete syndromic neurometabolic disease with X-linked intellectual disability		UMLS:CN200518|Orphanet:182076	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015920	Orphanet:182076|UMLS:CN200518	ordo_group_of_disorders
UBERON:0010129	biolink:AnatomicalEntity	femur cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010129		
HGNC:7456	biolink:NamedThing	MT-ND2			mondo.json		http://identifiers.org/hgnc/7456		
HGNC:7459	biolink:NamedThing	MT-ND4			mondo.json		http://identifiers.org/hgnc/7459		
HGNC:7458	biolink:NamedThing	MT-ND3			mondo.json		http://identifiers.org/hgnc/7458		
MONDO:0015924	biolink:Disease	pulmonary arterial hypertension	Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease).	GARD:0007501|UMLS:CN200519|UMLS:C2973725|MedDRA:10064911|Orphanet:182090|SCTID:11399002	mondo.json	PAH|idiopathic pulmonary hypertension|PPH|pulmonary arterial hypertension	http://purl.obolibrary.org/obo/MONDO_0015924	http://identifiers.org/snomedct/11399002|UMLS:C2973725|Orphanet:182090|UMLS:CN200519	ordo_group_of_disorders|disease_grouping
HP:0010316	biolink:PhenotypicFeature	Ebstein anomaly of the tricuspid valve	Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet.	EPCC:06.01.34|UMLS:C0013481|SNOMEDCT_US:204357006|ICD-10:Q22.5|MSH:D004437	mondo.json	Ebstein's anomaly|Ebstein's anomaly of the tricuspid valve|Ebstein's malformation	http://purl.obolibrary.org/obo/HP_0010316		
MONDO:0015923	biolink:Disease	acquired peripheral neuropathy	An instance of peripheral neuropathy that is acquired during the lifetime of the individual.	Orphanet:182086	mondo.json	acquired peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0015923	Orphanet:182086	disease_grouping|ordo_group_of_disorders
MONDO:0015922	biolink:Disease	obsolete channelopathy with epilepsy		Orphanet:182083	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015922	Orphanet:182083	ordo_group_of_disorders
MONDO:0015921	biolink:Disease	ARX-related epileptic encephalopathy		Orphanet:182079	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015921	Orphanet:182079	ordo_group_of_disorders|disease_grouping
UBERON:0009142	biolink:AnatomicalEntity	entire embryonic mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009142		
UBERON:0009145	biolink:AnatomicalEntity	pharyngeal region of foregut			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009145		
HGNC:7450	biolink:NamedThing	MTMR2			mondo.json		http://identifiers.org/hgnc/7450		
MONDO:0003946	biolink:Disease	vaginal villous adenoma	An adenoma that arises from the vagina and is characterized by a villous architectural pattern.	UMLS:C1519936|DOID:6613|NCIT:C40259	mondo.json	vaginal villous adenoma|vagina villous adenoma	http://purl.obolibrary.org/obo/MONDO_0003946	UMLS:C1519936|NCIT:C40259|DOID:6613	
MONDO:0003947	biolink:Disease	hyper-IgM syndrome	A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation.	NCIT:C3990|MESH:D053306|ICD9:279.05|Wikidata:Q1617658|NCIT:C84783|SCTID:82286005|UMLS:C0272236|DOID:0080544|OMIMPS:308230	mondo.json	hyperimmunoglobulin M syndrome|immunodeficiency with hyper-IgM	http://purl.obolibrary.org/obo/MONDO_0003947	http://identifiers.org/mesh/D053306|https://omim.org/phenotypicSeries/PS308230|NCIT:C84783|UMLS:C0272236|NCIT:C3990|http://identifiers.org/snomedct/82286005|DOID:0080544	
NCBITaxon:37567	biolink:OrganismalEntity	Ditrysia		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_37567		
MONDO:0003948	biolink:Disease	cerebral hemangioma	A hemangioma arising from the cerebral hemisphere.	DOID:6621|UMLS:C0877388|NCIT:C5433	mondo.json	hemangioma of cerebrum|telencephalon hemangioma|cerebral hemangioma|cerebral angioma|hemangioma of telencephalon|cerebral hemispheric angioma|cerebral hemispheric hemangioma|hemangioma of cerebral hemispheres|angioma of cerebral hemispheres|angioma of cerebrum|angioma of the cerebrum|angioma of the cerebral hemispheres|hemangioma of the cerebrum|hemangioma of the cerebral hemispheres	http://purl.obolibrary.org/obo/MONDO_0003948	UMLS:C0877388|NCIT:C5433|DOID:6621	
HGNC:7455	biolink:NamedThing	MT-ND1			mondo.json		http://identifiers.org/hgnc/7455		
MONDO:0003949	biolink:Disease	obsolete cervical adenoma malignum			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003949		
MONDO:0003920	biolink:Disease	obsolete gastric small cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003920		
MONDO:0003921	biolink:Disease	posterior foramen magnum meningioma	A meningioma that affects the posterior foramen magnum.	UMLS:C1335449|NCIT:C5282|DOID:6553	mondo.json	meningioma of the posterior Foramen magnum|meningioma of posterior Foramen magnum	http://purl.obolibrary.org/obo/MONDO_0003921	NCIT:C5282|UMLS:C1335449|DOID:6553	
MONDO:0003922	biolink:Disease	ovarian clear cell malignant adenofibroma	A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells with clear cytoplasm in a fibrotic stroma.	UMLS:C2075522|DOID:6554|ICDO:8313/3|NCIT:C40079	mondo.json	ovarian clear cell adenocarcinofibroma|ovarian clear cell malignant adenofibroma	http://purl.obolibrary.org/obo/MONDO_0003922	NCIT:C40079|UMLS:C2075522|DOID:6554	
MONDO:0003923	biolink:Disease	ethmoid sinus Schneiderian papilloma	A papilloma that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It is classified as inverted papilloma and oncocytic papilloma.	DOID:6559|NCIT:C6836|UMLS:C1333476	mondo.json	Schneiderian papilloma of the ethmoid sinus|ethmoid sinus Schneiderian papilloma|Schneiderian papilloma of ethmoid sinus	http://purl.obolibrary.org/obo/MONDO_0003923	NCIT:C6836|UMLS:C1333476|DOID:6559	
MONDO:0015906	biolink:Disease	obsolete rare disorder with hypergonadotropic hypogonadism		Orphanet:181441|UMLS:CN226785	mondo.json	rare disorder with primary hypogonadism	http://purl.obolibrary.org/obo/MONDO_0015906	UMLS:CN226785|Orphanet:181441	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0015905	biolink:Disease	syndromic dyslipidemia	A inherited lipid metabolism disorder that is part of a larger syndrome.	UMLS:C3875286|SCTID:109041000119107|Orphanet:181437	mondo.json	complex dyslipidemia|syndrome associated with inherited lipid metabolism disorder|rare syndromic dyslipidemia|syndromic inherited lipid metabolism disorder	http://purl.obolibrary.org/obo/MONDO_0015905	http://identifiers.org/snomedct/109041000119107|UMLS:C3875286|Orphanet:181437	disease_grouping|ordo_group_of_disorders
HP:0000975	biolink:PhenotypicFeature	Hyperhidrosis	Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.	SNOMEDCT_US:364538006|SNOMEDCT_US:415690000|SNOMEDCT_US:415691001|UMLS:C0038990|SNOMEDCT_US:161857006|SNOMEDCT_US:312230002|UMLS:C0020458|MSH:D013546|SNOMEDCT_US:52613005|MSH:D006945|UMLS:C0700590|MEDDRA:10020642	mondo.json	Sweating, increased|Profuse sweating|Excessive sweating|Sweating|Increased sweating|Sweating profusely|Diaphoresis	http://purl.obolibrary.org/obo/HP_0000975		hposlim_core
HP:0010301	biolink:PhenotypicFeature	Spinal dysraphism	A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.	UMLS:C0027794|SNOMEDCT_US:253098009|MSH:D009436	mondo.json	Incomplete closure of the vertebral arch	http://purl.obolibrary.org/obo/HP_0010301		
MONDO:0015904	biolink:Disease	obsolete rare hypolipidemia		Orphanet:181431|UMLS:CN226783	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015904	Orphanet:181431|UMLS:CN226783	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
HP:0000978	biolink:PhenotypicFeature	Bruising susceptibility	An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.	SNOMEDCT_US:302227002|UMLS:C0423798|SNOMEDCT_US:424131007|SNOMEDCT_US:425075004|UMLS:C0013491|SNOMEDCT_US:77643000|MSH:D004438	mondo.json	Bruisability|Easy bruising|Bruise easily|Easy bruisability|Bruising susceptibility	http://purl.obolibrary.org/obo/HP_0000978		
MONDO:0015903	biolink:Disease	hyperalphalipoproteinemia	An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease.	SCTID:238080004|UMLS:C0342883|ICD9:272.4|Orphanet:181428|NCIT:C128806	mondo.json	HALP1	http://purl.obolibrary.org/obo/MONDO_0015903	Orphanet:181428|NCIT:C128806|UMLS:C0342883|http://identifiers.org/snomedct/238080004	disease_grouping|ordo_group_of_disorders
MONDO:0015909	biolink:Disease	aplastic anemia	Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors.	NCIT:C2870|ICD9:284.9|ICD9:284.8|SCTID:306058006|DOID:12449|Orphanet:182040|MESH:D000741	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015909	Orphanet:182040|NCIT:C2870|http://identifiers.org/mesh/D000741|DOID:12449|http://identifiers.org/snomedct/306058006	ordo_group_of_disorders|disease_grouping
HP:0000979	biolink:PhenotypicFeature	Purpura	Purpura (from Latin: purpura, meaning "purple") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.	SNOMEDCT_US:423902002|SNOMEDCT_US:387778001|UMLS:C0034150|SNOMEDCT_US:12393003|MSH:D011693	mondo.json	Red or purple spots on the skin|Blood spots	http://purl.obolibrary.org/obo/HP_0000979		hposlim_core
UBERON:0010125	biolink:AnatomicalEntity	future superior salivatory nucleus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010125		
MONDO:0015908	biolink:Disease	chromomycosis	Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa.	ICD9:117.2|DOID:1562|Orphanet:182|MedDRA:10008803|SCTID:187079000|EFO:0007207|UMLS:C0008582|MESH:D002862|UMLS:C3245522|GARD:0001319	mondo.json	Chromoblastomycoses|mossy foot disease|Chromomycosis|chromoblastomycosis|chromomycosis|Chromomycoses|dermatitis Verrucosa	http://purl.obolibrary.org/obo/MONDO_0015908	http://identifiers.org/mesh/D002862|Orphanet:182|http://identifiers.org/snomedct/187079000|UMLS:C0008582|DOID:1562|UMLS:C3245522	ordo_disease
MONDO:0015907	biolink:Disease	epimetaphyseal skeletal dysplasia		Orphanet:1819|GARD:0002176	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015907	Orphanet:1819	gard_rare|ordo_malformation_syndrome
UBERON:0010123	biolink:AnatomicalEntity	future facial nucleus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010123		
HGNC:7468	biolink:NamedThing	MTR			mondo.json		http://identifiers.org/hgnc/7468		
HGNC:7467	biolink:NamedThing	MTTP			mondo.json		http://identifiers.org/hgnc/7467		
HP:0000970	biolink:PhenotypicFeature	Anhidrosis	Inability to sweat.	SNOMEDCT_US:39659002|MSH:D007007|SNOMEDCT_US:14662005|UMLS:C0003028|MEDDRA:10002512	mondo.json	Sudomotor dysfunction|Lack of sweating|Sweating dysfunction|Anhydrosis	http://purl.obolibrary.org/obo/HP_0000970		hposlim_core
HP:0010307	biolink:PhenotypicFeature	Stridor	Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.	UMLS:C0237304|SNOMEDCT_US:248573009|SNOMEDCT_US:70407001|UMLS:C0038450|MSH:D012135	mondo.json	Noisy breathing	http://purl.obolibrary.org/obo/HP_0010307		
HP:0000972	biolink:PhenotypicFeature	Palmoplantar hyperkeratosis	Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.	SNOMEDCT_US:706885006|MSH:D007645|UMLS:C0022596	mondo.json	Thickening of the outer layer of the skin of the palms and soles|Palmoplantar keratosis|Thick palms and soles|Hyperkeratosis of the palms and soles|Hyperkeratosis of palms and soles|Palmoplantar keratoses|Thickened palms and soles	http://purl.obolibrary.org/obo/HP_0000972		hposlim_core
MONDO:0015913	biolink:Disease	obsolete rare thrombotic disease of hematologic origin		UMLS:CN200513|Orphanet:182054	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015913	UMLS:CN200513|Orphanet:182054	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0015912	biolink:Disease	macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.	UMLS:C1834478|ICD9:582.89|SCTID:712922002|GARD:0000179|OMIM:600208|ICD9:287.33|DOID:0060651|MESH:C537831|NCIT:C131646|Orphanet:1019|UMLS:CN226030|OMIM:153640|SCTID:236422008|SCTID:234484005|SCTID:234485006|UMLS:CN226270|Orphanet:1984|OMIM:155100|ICD9:759.89|GARD:0000180|Orphanet:182050|UMLS:CN226018|OMIM:605249|Orphanet:850|Orphanet:807	mondo.json	MYH9 related thrombocytopenia|bleeding disorder, Platelet-type, 6|MYH9-RD|macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions|macrothrombocytopenia and progressive sensorineural deafness|Epstein syndrome|MHA|FTNS|macrothrombocytopenia with dispersed leukocytic inclusions|macrothrombocytopenia, nephritis, and deafness|MYH-9 related disease|MYH9-related syndromic thrombocytopenia|MYH9 related disorders|giant platelet syndrome with thrombocytopenia|macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss|SBS|Fechtner syndrome|Sebastian syndrome|Alport syndrome with macrothrombocytopenia, formerly|May-Hegglin thrombocytopenia|macrothrombocytopenia progressive deafness|MYH9-related disease|Alport syndrome with macrothrombocytopenia|May-Hegglin anomaly|MYH9-related syndrome|MYH9-related disorder|Dohle leukocyte inclusions with giant platelets|matins|Sebastian platelet syndrome|macrothrombocytopenia with leukocyte inclusions|Brodie Chole griffin syndrome	http://purl.obolibrary.org/obo/MONDO_0015912	http://identifiers.org/snomedct/712922002|http://identifiers.org/mesh/C537831|Orphanet:807|Orphanet:1984|Orphanet:850|http://identifiers.org/snomedct/234485006|NCIT:C131646|http://identifiers.org/snomedct/234484005|DOID:0060651|https://omim.org/entry/155100|https://omim.org/entry/600208|UMLS:C1834478|Orphanet:182050|https://omim.org/entry/153640|Orphanet:1019|https://omim.org/entry/605249|http://identifiers.org/snomedct/236422008	ordo_disease|gard_rare
MONDO:0015911	biolink:Disease	obsolete rare acquired hemolytic anemia	OBSOLETE. Hemolytic anemia, the cause of which is not present at birth.	ICD10CM:D59.3|ICD10CM:D59.0|Orphanet:182047|NCIT:C34377|SCTID:4854004	mondo.json	Acquired hemolytic Anemia	http://purl.obolibrary.org/obo/MONDO_0015911	http://identifiers.org/snomedct/4854004|Orphanet:182047|NCIT:C34377	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0015910	biolink:Disease	obsolete rare constitutional hemolytic anemia		UMLS:CN226786|Orphanet:182043	mondo.json	rare familial constitutional hemolytic anemia|rare genetic constitutional hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0015910	Orphanet:182043|UMLS:CN226786	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0003917	biolink:Disease	heart lymphoma	An extranodal lymphoma that arises from the heart and/or the pericardium. The majority of the cases are diffuse large B-cell lymphomas. Patients may present with chest pain, heart failure, pericardial effusion, arrhythmia, or syncope.	DOID:6547|UMLS:C1332850|NCIT:C5368	mondo.json	heart lymphoma|lymphoma of the heart|Primary heart lymphoma|PCL|lymphoma of heart|Cardiac lymphoma|primary Cardiac lymphoma	http://purl.obolibrary.org/obo/MONDO_0003917	DOID:6547|UMLS:C1332850|NCIT:C5368	
HGNC:7460	biolink:NamedThing	MT-ND4L			mondo.json		http://identifiers.org/hgnc/7460		
MONDO:0003918	biolink:Disease	angiomatous meningioma	A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells.	NCIT:C4332|UMLS:C0334608|DOID:6548|ICDO:9534/0|EFO:1000086	mondo.json	angiomatous meningioma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003918	UMLS:C0334608|DOID:6548|NCIT:C4332	
UBERON:0009132	biolink:AnatomicalEntity	peroneus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009132		
HGNC:7462	biolink:NamedThing	MT-ND6			mondo.json		http://identifiers.org/hgnc/7462		
UBERON:0009133	biolink:AnatomicalEntity	pleuroperitoneal membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009133		
MONDO:0003919	biolink:Disease	obsolete inherited metabolic disorder			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003919		
HGNC:7461	biolink:NamedThing	MT-ND5			mondo.json		http://identifiers.org/hgnc/7461		
MONDO:0003913	biolink:Disease	choroid mixed cell melanoma	A mixed cell uveal melanoma that involves the optic choroid.	DOID:6525|UMLS:C1333025|NCIT:C35782	mondo.json	optic choroid mixed cell uveal melanoma|mixed cell uveal melanoma of optic choroid|choroid mixed cell melanoma	http://purl.obolibrary.org/obo/MONDO_0003913	DOID:6525|NCIT:C35782|UMLS:C1333025	
HGNC:7464	biolink:NamedThing	MTNR1B			mondo.json		http://identifiers.org/hgnc/7464		
MONDO:0003914	biolink:Disease	obsolete inborn purine-pyrimidine metabolic disorder			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003914		
MONDO:0003915	biolink:Disease	cortical thymoma	A thymic epithelial neoplasm characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. The neoplastic cells are arranged around perivascular spaces and along septa. Immature T-lymphocytes are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It is a tumor of moderate malignancy. The majority of cases occur in the anterior mediastinum as Masaoka stage I, stage II, or stage III tumors. Metastatic, stage IV tumors occur less frequently.	NCIT:C6888|DOID:6530|UMLS:C1266095|ICDO:8584/1	mondo.json	thymoma, cortical|polygonal cell thymoma|thymoma type B2|cortical thymoma	http://purl.obolibrary.org/obo/MONDO_0003915	DOID:6530|UMLS:C1266095|NCIT:C6888	
MONDO:0003916	biolink:Disease	overnutrition	An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity.	SCTID:302872003|MESH:D044343|UMLS:C1257763|DOID:654|ICD9:278.8	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003916	http://identifiers.org/mesh/D044343|DOID:654|http://identifiers.org/snomedct/302872003|UMLS:C1257763	
MONDO:0003931	biolink:Disease	childhood optic tract astrocytoma	An astrocytoma that arises from the visual pathway and occurs during childhood.	DOID:6575|NCIT:C7534|UMLS:C1333014	mondo.json	optic tract astrocytoma of childhood|childhood optic tract astrocytoma|pediatric optic tract astrocytoma|pediatric visual pathway astrocytoma|childhood visual pathway astrocytoma	http://purl.obolibrary.org/obo/MONDO_0003931	NCIT:C7534|UMLS:C1333014|DOID:6575	
MONDO:0003932	biolink:Disease	childhood optic nerve glioma	A glioma affecting the optic tract and occurring in childhood.	DOID:6576|GARD:0009309|NCIT:C7535	mondo.json	childhood optic tract glioma|pediatric visual pathway glioma|glioma of pediatric visual pathway|pediatric optic tract glioma|pediatric optic nerve glioma|childhood visual pathway glioma|glioma of the pediatric visual pathway|optic nerve glioma of childhood|visual pathway glioma|glioma of childhood visual pathway|glioma of the childhood visual pathway|visual pathway and hypothalamic glioma, childhood	http://purl.obolibrary.org/obo/MONDO_0003932	NCIT:C7535|DOID:6576	
MONDO:0003933	biolink:Disease	chest wall bone cancer	An uncommon malignant neoplasm that arises from the chest wall bones. Representative examples include chondrosarcoma, osteosarcoma, and Ewing sarcoma/peripheral primitive neuroectodermal tumor.	DOID:6579|NCIT:C6724|UMLS:C1334572	mondo.json	malignant chest wall bone tumor|bone cancer of chest wall|malignant bone neoplasm of chest wall|malignant bone tumor of chest wall|malignant bone tumor of the chest wall|malignant bone neoplasm of the chest wall|chest wall bone cancer|malignant chest wall bone neoplasm	http://purl.obolibrary.org/obo/MONDO_0003933	NCIT:C6724|UMLS:C1334572|DOID:6579	
MONDO:0003934	biolink:Disease	breast apocrine carcinoma	An adenocarcinoma of the breast characterized by the presence of two intermingled cellular components: cells with abundant granular, eosinophilic cytoplasm, and cells with abundant cytoplasm containing fine empty vacuoles.	NCIT:C5141|DOID:6581|UMLS:C1332316	mondo.json	breast apocrine adenocarcinoma|apocrine breast carcinoma|apocrine carcinoma of breast|breast apocrine carcinoma|apocrine carcinoma of the breast|apocrine adenocarcinoma of breast	http://purl.obolibrary.org/obo/MONDO_0003934	NCIT:C5141|DOID:6581|UMLS:C1332316	
MONDO:0003930	biolink:Disease	non-invasive bladder urothelial carcinoma	Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0). Ta: Noninvasive papillary carcinoma. Tis: Carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)	NCIT:C6188|UMLS:C1336089|DOID:6571	mondo.json	stage 0 bladder urothelial carcinoma aJCC v6 and v7|non-invasive bladder urothelial carcinoma|stage 0 transitional cell carcinoma of the bladder|stage 0 transitional cell carcinoma of bladder|stage 0 bladder urothelial carcinoma aJCC v7|stage 0 bladder urothelial cancer|stage 0 bladder urothelial carcinoma aJCC v6|stage 0 urinary bladder transitional cell carcinoma|stage 0 bladder urothelial carcinoma|stage 0 transitional cell carcinoma of the urinary bladder|stage 0 transitional cell carcinoma of urinary bladder	http://purl.obolibrary.org/obo/MONDO_0003930	NCIT:C6188|UMLS:C1336089|DOID:6571	
HP:0000989	biolink:PhenotypicFeature	Pruritus	Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.	SNOMEDCT_US:424492005|MSH:D011537|SNOMEDCT_US:418363000|SNOMEDCT_US:418290006|SNOMEDCT_US:279333002|UMLS:C0033774	mondo.json	Itching|Skin itching|Itchy skin	http://purl.obolibrary.org/obo/HP_0000989		hposlim_core
HP:0000988	biolink:PhenotypicFeature	Skin rash	A red eruption of the skin.	MSH:D005076|UMLS:C0015230|MEDDRA:10037844|SNOMEDCT_US:112625008|SNOMEDCT_US:271807003	mondo.json	Rash|Skin rash	http://purl.obolibrary.org/obo/HP_0000988		
UBERON:0009129	biolink:AnatomicalEntity	right atrium endocardium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009129		
MONDO:0015902	biolink:Disease	major hypertriglyceridemia	Major hypertriglyceridemia comprises a group of endocrine diseases characterized by permanently high levels of triglycerides (TG) in the blood (higher than 4g/L after 12 hours of fasting) and an increased risk of acute pancreatitis, making screening essential.	Orphanet:181425	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015902	Orphanet:181425	disease_grouping|ordo_group_of_disorders
MONDO:0015901	biolink:Disease	obsolete rare inherited hyperlipidemia		UMLS:C0020473|ICD9:272.4|Orphanet:181422|ICD10CM:E78.5	mondo.json	rare hyperlipidemia	http://purl.obolibrary.org/obo/MONDO_0015901	Orphanet:181422	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
HP:0000982	biolink:PhenotypicFeature	Palmoplantar keratoderma	Abnormal thickening of the skin of the palms of the hands and the soles of the feet.	MSH:D007645|UMLS:C0022596|SNOMEDCT_US:706885006	mondo.json	Palmar and plantar keratoderma|Thickening of palms and soles	http://purl.obolibrary.org/obo/HP_0000982		
MONDO:0015900	biolink:Disease	hypoaldosteronism disease		UMLS:C0020595|SCTID:60086000|GARD:0002874|MESH:D006994|Orphanet:181419	mondo.json	rare hypoaldosteronism|hypoaldosteronism	http://purl.obolibrary.org/obo/MONDO_0015900	Orphanet:181419|http://identifiers.org/snomedct/60086000|http://identifiers.org/mesh/D006994|UMLS:C0020595	ordo_group_of_disorders|disease_grouping|gard_rare
MONDO:0003928	biolink:Disease	uterine corpus myxoid leiomyosarcoma	A morphologic variant of leiomyosarcoma arising from the uterus corpus. It is characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma.	ONCOTREE:UMLMS|UMLS:C1519861|DOID:6567|NCIT:C40175	mondo.json	myxoid leiomyosarcoma of body of uterus|uterine corpus myxoid leiomyosarcoma|body of uterus myxoid leiomyosarcoma|uterine myxoid leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003928	DOID:6567|UMLS:C1519861|NCIT:C40175	
MONDO:0003929	biolink:Disease	vestibular micropapillomatosis	A benign neoplastic process characterized by the presence of multiple vestibular papillomas in the vulva.	NCIT:C40290|DOID:6569|UMLS:C1519982	mondo.json	micropapillomatosis labialis|vestibular micropapillomatosis	http://purl.obolibrary.org/obo/MONDO_0003929	DOID:6569|UMLS:C1519982|NCIT:C40290	
HGNC:7470	biolink:NamedThing	MT-RNR1			mondo.json		http://identifiers.org/hgnc/7470		
HGNC:7473	biolink:NamedThing	MTRR			mondo.json		http://identifiers.org/hgnc/7473		
UBERON:0009122	biolink:AnatomicalEntity	adenohypophyseal placode			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009122		
MONDO:0003924	biolink:Disease	adrenal cortex adenoma	A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.)	DOID:0050891|EFO:0003104|SCTID:302826002|Orphanet:99888|GARD:0005745|UMLS:C0206667|DOID:656|Orphanet:463|HP:0008196|ICDO:8370/0|ONCOTREE:ACA|MESH:D018246|NCIT:C9003|HP:0008256	mondo.json	adrenal incidentaloma|benign adenoma of the adrenal gland|benign adrenal gland adenoma|benign adenoma of adrenal gland|adenoma of the adrenal gland|adrenocortical adenoma|benign adrenal adenoma|adenoma of adrenal cortex|adenoma, adrenocortical, benign|adenoma of the adrenal cortex|adrenal cortex adenoma|adrenal gland adenoma|adrenal adenoma|adrenal cortical adenoma|cortical cell adenoma|adenoma of adrenal gland	http://purl.obolibrary.org/obo/MONDO_0003924	Orphanet:99888|DOID:656|UMLS:C0206667|DOID:0050891|http://identifiers.org/mesh/D018246|http://identifiers.org/snomedct/302826002|NCIT:C9003	gard_rare
UBERON:0009124	biolink:AnatomicalEntity	geniculate placode			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009124		
MONDO:0003925	biolink:Disease	ethmoid sinus inverted papilloma	A benign neoplasm that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.	NCIT:C6843|UMLS:C1333474|DOID:6562	mondo.json	inverted papilloma of ethmoid sinus|inverted papilloma of the ethmoid sinus|ethmoid sinus inverted papilloma	http://purl.obolibrary.org/obo/MONDO_0003925	DOID:6562|NCIT:C6843|UMLS:C1333474	
UBERON:0009125	biolink:AnatomicalEntity	petrosal placode			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009125		
MONDO:0003926	biolink:Disease	neurilemmoma of the pleura	A schwannoma that involves the pleura.	DOID:6564|NCIT:C5418|UMLS:C1335435	mondo.json	pleural schwannoma|schwannoma of pleura|neurilemmoma of pleura|pleura schwannoma|pleural neurilemmoma|schwannoma of the pleura	http://purl.obolibrary.org/obo/MONDO_0003926	DOID:6564|NCIT:C5418|UMLS:C1335435	
NCBITaxon:2731341	biolink:OrganismalEntity	Duplodnaviria		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2731341		
HGNC:7477	biolink:NamedThing	MT-TC			mondo.json		http://identifiers.org/hgnc/7477		
UBERON:0009126	biolink:AnatomicalEntity	nodosal placode			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009126		
UBERON:0009127	biolink:AnatomicalEntity	epibranchial ganglion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009127		
MONDO:0003927	biolink:Disease	posterior uveal melanoma		DOID:6566	mondo.json	small size posterior uveal melanoma|medium/large size posterior uveal melanoma	http://purl.obolibrary.org/obo/MONDO_0003927	DOID:6566	
NCBITaxon:2731342	biolink:OrganismalEntity	Monodnaviria		GC_ID:1	mondo.json	single-stranded DNA viruses	http://purl.obolibrary.org/obo/NCBITaxon_2731342		
MONDO:0003986	biolink:Disease	obsolete MONDO:0003986			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003986		
MONDO:0001323	biolink:Disease	infant gynecomastia	Transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen.	SCTID:34831003|UMLS:C1449721|DOID:11603|ICD9:778.7|ICD10CM:P83.4	mondo.json	breast engorgement in newborn|neonatal gynaecomastia	http://purl.obolibrary.org/obo/MONDO_0001323	UMLS:C1449721|http://identifiers.org/snomedct/34831003|http://purl.bioontology.org/ontology/ICD10CM/P83.4|DOID:11603	
MONDO:0001322	biolink:Disease	pericardium cancer	A malignant neoplasm involving the pericardium.	NCIT:C4567|UMLS:C0346609|DOID:116	mondo.json	malignant pericardial neoplasm|malignant tumor of the pericardium|cancer of pericardium|pericardial tumor|malignant tumor of pericardium|pericardium cancer|malignant pericardial tumor|malignant pericardium neoplasm|malignant neoplasm of the pericardium|malignant neoplasm of pericardium	http://purl.obolibrary.org/obo/MONDO_0001322	NCIT:C4567|UMLS:C0346609|DOID:116	
MONDO:0003987	biolink:Disease	lung lymphoma	A rare non-Hodgkin or Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis.	UMLS:C1704383|NCIT:C4794|UMLS:C0519063|DOID:6760	mondo.json	primary lung lymphoma|lymphoma of the lung|lung lymphoma|pulmonary lymphoma|lymphoma of lung	http://purl.obolibrary.org/obo/MONDO_0003987	NCIT:C4794|DOID:6760|UMLS:C1704383	
MONDO:0003988	biolink:Disease	sternum lymphoma	A rare lymphoma that arises from the bone or soft tissue of the sternum.	UMLS:C1336504|DOID:6762|NCIT:C6716	mondo.json	sternum lymphoma|lymphoma of the sternum|sternal lymphoma|lymphoma of sternum|primary sternal lymphoma	http://purl.obolibrary.org/obo/MONDO_0003988	DOID:6762|NCIT:C6716|UMLS:C1336504	
MONDO:0001321	biolink:Disease	obsolete scleral staphyloma		UMLS:C0155359|HP:0030854|ICD9:379.11|SCTID:111534007|DOID:11595	mondo.json	scleral ectasia|scleral staphyloma|scleral staphyloma (disease)	http://purl.obolibrary.org/obo/MONDO_0001321	http://identifiers.org/snomedct/111534007|UMLS:C0155359|DOID:11595	
UBERON:0009191	biolink:AnatomicalEntity	sphenoid bone pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009191		
MONDO:0003989	biolink:Disease	polyembryoma of the ovary	A rare, malignant germ cell tumor arising from the ovary. It is characterized by the presence of embryoid bodies which resemble early embryos.	UMLS:C1514199|NCIT:C39990|ONCOTREE:OPE|DOID:6774	mondo.json	polyembryoma|ovarian polyembryoma	http://purl.obolibrary.org/obo/MONDO_0003989	NCIT:C39990|UMLS:C1514199|DOID:6774	
MONDO:0001320	biolink:Disease	ring staphyloma		ICD9:379.15|DOID:11594|SCTID:5299007|UMLS:C0155363	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001320	http://identifiers.org/snomedct/5299007|UMLS:C0155363|DOID:11594	
MONDO:0001327	biolink:Disease	pelvic muscle wasting		DOID:11629|ICD9:618.83|ICD10CM:N81.84	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001327	DOID:11629|http://purl.bioontology.org/ontology/ICD10CM/N81.84	
MONDO:0003982	biolink:Disease	bilateral breast carcinoma	Carcinoma that affects both breasts in a simultaneous or non-simultaneous manner.	NCIT:C8287|UMLS:C0281267|DOID:6741	mondo.json	bilateral breast cancer|bilateral breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0003982	DOID:6741|NCIT:C8287|UMLS:C0281267	
UBERON:0009193	biolink:AnatomicalEntity	sphenoid cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009193		
MONDO:0003983	biolink:Disease	synchronous bilateral breast carcinoma	Carcinoma that is detected in one breast within two months from the diagnosis of carcinoma in the other breast.	NCIT:C40370|UMLS:C1515107|DOID:6742	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003983	UMLS:C1515107|NCIT:C40370|DOID:6742	
MONDO:0001326	biolink:Disease	dental pulp necrosis	Death of pulp tissue with or without bacterial invasion. When the necrosis is due to ischemia with superimposed bacterial infection, it is referred to as pulp gangrene. When the necrosis is non-bacterial in origin, it is called pulp mummification.	ICD10CM:K04.1|ICD9:522.1|SCTID:42711005|UMLS:C0011407|MESH:D003790|DOID:11623	mondo.json	necrosis of pulp|necrotic pulp|necrosis of the pulp|pulp necrosis	http://purl.obolibrary.org/obo/MONDO_0001326	DOID:11623|http://purl.bioontology.org/ontology/ICD10CM/K04.1|http://identifiers.org/mesh/D003790|http://identifiers.org/snomedct/42711005|UMLS:C0011407	
UBERON:0010183	biolink:AnatomicalEntity	liver trabecula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010183		
MONDO:0001325	biolink:Disease	penile cancer	A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma.	ICD9:187.3|UMLS:CN226091|DOID:11615|SCTID:363516004|ICD9:187.4|NCIT:C7547|Orphanet:398043	mondo.json	penile cancer|malignant penile tumor|malignant penile neoplasm|malignant tumor of the penis|malignant neoplasm of body of penis|malignant tumor of penis|penis cancer|penile Ca|penile neoplasm|cancer of penis|malignant penis neoplasm|Ca penis|malignant neoplasm of penis|malignant neoplasm of the penis	http://purl.obolibrary.org/obo/MONDO_0001325	DOID:11615|http://identifiers.org/snomedct/363516004|UMLS:CN226091|Orphanet:398043|NCIT:C7547	ordo_group_of_disorders|disease_grouping
MONDO:0003984	biolink:Disease	internal auditory canal lipoma	A rare benign adipose tissue neoplasm of the internal auditory canal, often presenting as an acoustic tumor. It may be intermixed with the vestibulocochlear nerve and may adhere to adjacent structures.	UMLS:C1334226|NCIT:C5452|DOID:6752	mondo.json	inner Ear lipoma|internal acoustic meatus lipoma|lipoma of internal auditory canal|lipoma of internal acoustic meatus|internal Ear lipoma|lipoma of the internal auditory canal	http://purl.obolibrary.org/obo/MONDO_0003984	UMLS:C1334226|DOID:6752|NCIT:C5452	
MONDO:0003985	biolink:Disease	chest wall lymphoma	A lymphoma that affects the structures of the chest wall. The majority of cases are diffuse large B-cell lymphomas.	DOID:6758|UMLS:C1332933|NCIT:C6712	mondo.json	lymphoma of chest wall|chest wall cancer|chest wall lymphoma|lymphoma of the chest wall|primary chest wall lymphoma	http://purl.obolibrary.org/obo/MONDO_0003985	DOID:6758|UMLS:C1332933|NCIT:C6712	
MONDO:0001324	biolink:Disease	hyperandrogenism	A condition caused by the excessive secretion of androgens from the adrenal cortex; the ovaries; or the testes. The clinical significance in males is negligible. In women, the common manifestations are hirsutism and virilism as seen in patients with polycystic ovary syndrome and adrenocortical hyperfunction.	UMLS:C0206081|MESH:D017588|DOID:11613|SCTID:237793004|EFO:0009006	mondo.json	hyperandrogenization syndrome	http://purl.obolibrary.org/obo/MONDO_0001324	http://identifiers.org/mesh/D017588|DOID:11613|UMLS:C0206081|http://identifiers.org/snomedct/237793004	obsoletion_candidate
UBERON:0009196	biolink:AnatomicalEntity	indifferent external genitalia			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009196		
MONDO:0013309	biolink:Disease	chromosome 2p12-p11.2 deletion syndrome		OMIM:613564|DOID:0060414|UMLS:C3150804	mondo.json	chromosome 2p12-p11.2 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013309	UMLS:C3150804|DOID:0060414|https://omim.org/entry/613564	
UBERON:0010186	biolink:AnatomicalEntity	male urethral gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010186		
UBERON:0010187	biolink:AnatomicalEntity	female urethral gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010187		
MONDO:0013307	biolink:Disease	myopathy, lactic acidosis, and sideroblastic anemia 2	Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene.	OMIM:613561|DOID:0111186|UMLS:C3150802	mondo.json	YARS2 mitochondrial myopathy and sideroblastic anemia|MLASA2|mitochondrial myopathy and sideroblastic anemia caused by mutation in YARS2|myopathy, lactic acidosis, and sideroblastic anemia 2|myopathy, lactic acidosis, and sideroblastic Anemia type 2	http://purl.obolibrary.org/obo/MONDO_0013307	https://omim.org/entry/613561|DOID:0111186|UMLS:C3150802	
MONDO:0003980	biolink:Disease	schwannoma of jugular foramen	A rare intracranial schwannoma that affects the jugular foramen.	DOID:6735|UMLS:C1334300|NCIT:C5323	mondo.json	jugular foramen schwannoma|schwannoma of the jugular Foramen|neurilemmoma of the jugular Foramen|neurilemmoma of jugular Foramen|jugular Foramen neurilemmoma	http://purl.obolibrary.org/obo/MONDO_0003980	DOID:6735|NCIT:C5323|UMLS:C1334300	
MONDO:0015969	biolink:Disease	obsolete rare genetic thyroid disease	OBSOLETE. Rare genetic thyroid disease.	Orphanet:183631|UMLS:CN200568	mondo.json	rare genetic thyroid disease	http://purl.obolibrary.org/obo/MONDO_0015969	Orphanet:183631|UMLS:CN200568	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0013308	biolink:Disease	CBL-related disorder	CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL.	UMLS:C4016301|UMLS:C3150803|Orphanet:363972|OMIM:613563	mondo.json	Noonan-like syndrome|Cbl syndrome|NSLL|Noonan syndrome-like disorder with JMML|CBL-related disorder|Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia|Cbl mutation-associated syndrome|Noonan syndrome-like disorder with juvenile myelomonocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0013308	https://omim.org/entry/613563|UMLS:C4016301|Orphanet:363972|UMLS:C3150803	ordo_malformation_syndrome
UBERON:0010185	biolink:AnatomicalEntity	rete ovarii			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010185		
MONDO:0003981	biolink:Disease	obsolete cervix small cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003981		
UBERON:0010188	biolink:AnatomicalEntity	protuberance			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010188		
UBERON:0010189	biolink:AnatomicalEntity	right atrium venous valve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010189		
MONDO:0013312	biolink:Disease	retinitis pigmentosa 55	Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene.	OMIM:613575|UMLS:C3150808|DOID:0110370|ICD10CM:H35.5	mondo.json	ARL6 retinitis pigmentosa|retinitis pigmentosa type 55|RP55|retinitis pigmentosa 55|retinitis pigmentosa caused by mutation in ARL6	http://purl.obolibrary.org/obo/MONDO_0013312	DOID:0110370|UMLS:C3150808|https://omim.org/entry/613575	
MONDO:0015975	biolink:Disease	hyper-IgM syndrome with susceptibility to opportunistic infections		Orphanet:183663|UMLS:CN200572	mondo.json	HIGM with susceptibility to opportunistic infections	http://purl.obolibrary.org/obo/MONDO_0015975	Orphanet:183663|UMLS:CN200572	predisposition|ordo_disease
MONDO:0015974	biolink:Disease	severe combined immunodeficiency	Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.	SCTID:31323000|NCIT:C3472|MESH:D016511|HP:0004430|GARD:0007628|Orphanet:183660|DOID:627|MedDRA:10069566|UMLS:C0085110	mondo.json	severe combined immunodeficiency|combined T and B cell inborn immunodeficiency|SCID|severe combined immunodeficiency disease|severe combined immunodeficiency (disease)	http://purl.obolibrary.org/obo/MONDO_0015974	NCIT:C3472|UMLS:C0085110|Orphanet:183660|DOID:627|http://identifiers.org/snomedct/31323000|http://identifiers.org/mesh/D016511	disease_grouping|ordo_group_of_disorders
MONDO:0013313	biolink:Disease	ectodermal dysplasia-cutaneous syndactyly syndrome		UMLS:C3150809|Orphanet:247827|OMIM:613576	mondo.json	EDCS|ectodermal dysplasia-syndactyly syndrome 2|EDSS2	http://purl.obolibrary.org/obo/MONDO_0013313	UMLS:C3150809|https://omim.org/entry/613576|Orphanet:247827	ordo_malformation_syndrome
HGNC:7489	biolink:NamedThing	MT-TK			mondo.json		http://identifiers.org/hgnc/7489		
MONDO:0013310	biolink:Disease	congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.	SCTID:715733000|Orphanet:95699|GARD:0012664|OMIM:613571	mondo.json	congenital adrenal hyperplasia due to cytochrome POR deficiency|disordered steroidogenesis due to cytochrome P450 oxidoreductase|PORD|POR deficiency|disordered steroidogenesis due to POR deficiency|adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency|disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency	http://purl.obolibrary.org/obo/MONDO_0013310	http://identifiers.org/snomedct/715733000|Orphanet:95699|https://omim.org/entry/613571	ordo_disease|gard_rare
MONDO:0015973	biolink:Disease	obsolete rare genetic coagulation disorder			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015973		
MONDO:0015972	biolink:Disease	obsolete rare constitutional anemia	OBSOLETE. A form of anemia (disease) that is both rare and inborn.	Orphanet:183651|UMLS:CN226818	mondo.json	rare inborn anemia (disease)|rare constitutional anemia (disease)|rare genetic anemia (disease)	http://purl.obolibrary.org/obo/MONDO_0015972	Orphanet:183651|UMLS:CN226818	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0013311	biolink:Disease	ectodermal dysplasia-syndactyly syndrome	Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.	Orphanet:247820|UMLS:CN228599|OMIMPS:613573	mondo.json	EDSS1|ectodermal dysplasia-syndactyly syndrome 1|EDSS|ectodermal dysplasia-syndactyly syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0013311	UMLS:CN228599|Orphanet:247820|https://omim.org/phenotypicSeries/PS613573	prototype_pattern|ordo_malformation_syndrome
MONDO:0013316	biolink:Disease	occult macular dystrophy	Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms.	OMIM:613587|DOID:0050578|Orphanet:247834|ICD10CM:H35.5|UMLS:C3150833	mondo.json	OMD|Omd|OCMD|occult macular dystrophy	http://purl.obolibrary.org/obo/MONDO_0013316	Orphanet:247834|https://omim.org/entry/613587|DOID:0050578|UMLS:C3150833	ordo_disease
MONDO:0015979	biolink:Disease	hereditary predisposition to infections		Orphanet:183710	mondo.json	genetic susceptibility to infections due to particular pathogens	http://purl.obolibrary.org/obo/MONDO_0015979	Orphanet:183710	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0013317	biolink:Disease	torsade-de-pointes syndrome with short coupling interval	Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death.	UMLS:C3150851|OMIM:613600|Orphanet:51084|SCTID:718104007	mondo.json	torsade DE pointes, short-coupled variant	http://purl.obolibrary.org/obo/MONDO_0013317	http://identifiers.org/snomedct/718104007|Orphanet:51084|https://omim.org/entry/613600|UMLS:C3150851	ordo_disease
MONDO:0015978	biolink:Disease	functional neutrophil defect		SCTID:105600002|Orphanet:183681	mondo.json	neutrophilopathy|neutrophil disease	http://purl.obolibrary.org/obo/MONDO_0015978	Orphanet:183681|http://identifiers.org/snomedct/105600002	disease_grouping|ordo_group_of_disorders
MONDO:0013314	biolink:Disease	retinitis pigmentosa 56	Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene.	UMLS:C3150819|DOID:0110371|ICD10CM:H35.5|OMIM:613581	mondo.json	maculopathy, Impg2-related|retinitis pigmentosa caused by mutation in IMPG2|RP56|IMPG2 retinitis pigmentosa|retinitis pigmentosa type 56|retinitis pigmentosa 56	http://purl.obolibrary.org/obo/MONDO_0013314	https://omim.org/entry/613581|UMLS:C3150819|DOID:0110371	
MONDO:0015977	biolink:Disease	agammaglobulinemia	A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes.	ICD9:279.00|MESH:D000361|DOID:2583|Orphanet:183669|OMIMPS:601495|MedDRA:10001471|GARD:0007455	mondo.json	Immunoglobulin Deficiency|antibody Deficiency|IGHM|hypogammaglobulinemia|Gammaglobulin Deficiency|agammaglobulinemia|mu heavy chain deficiency	http://purl.obolibrary.org/obo/MONDO_0015977	Orphanet:183669|http://identifiers.org/mesh/D000361|DOID:2583|https://omim.org/phenotypicSeries/PS601495	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0013315	biolink:Disease	retinitis pigmentosa 57	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene.	DOID:0110407|ICD10CM:H35.5|OMIM:613582|UMLS:C3150821	mondo.json	RP57|PDE6G retinitis pigmentosa|retinitis pigmentosa caused by mutation in PDE6G|retinitis pigmentosa type 57|retinitis pigmentosa 57	http://purl.obolibrary.org/obo/MONDO_0013315	https://omim.org/entry/613582|UMLS:C3150821|DOID:0110407	
MONDO:0015976	biolink:Disease	hyper-IgM syndrome without susceptibility to opportunistic infections		Orphanet:183666|UMLS:CN200573	mondo.json	HIGM without susceptibility to opportunistic infections	http://purl.obolibrary.org/obo/MONDO_0015976	Orphanet:183666|UMLS:CN200573	predisposition|ordo_disease
MONDO:0001319	biolink:Disease	bladder lateral wall cancer		UMLS:C0496828|ICD9:188.2|DOID:11593|SCTID:188241004	mondo.json	malignant neoplasm of lateral wall of urinary bladder	http://purl.obolibrary.org/obo/MONDO_0001319	DOID:11593|UMLS:C0496828|http://identifiers.org/snomedct/188241004	
UBERON:0009198	biolink:AnatomicalEntity	craniofacial suture			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009198		
HGNC:7481	biolink:NamedThing	MT-TF			mondo.json		http://identifiers.org/hgnc/7481		
MONDO:0001318	biolink:Disease	functional gastric disease		ICD9:536.9|ICD9:306.4|SCTID:150541000119104|SCTID:386211005|DOID:1159|ICD9:536.8	mondo.json	functional gastric disorder|disorder of stomach function|disorder of gastric function|functional gastric disturbance|disorder of function of stomach	http://purl.obolibrary.org/obo/MONDO_0001318	DOID:1159|http://identifiers.org/snomedct/150541000119104|http://identifiers.org/snomedct/386211005	
UBERON:0009199	biolink:AnatomicalEntity	facial suture			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009199		
MONDO:0001317	biolink:Disease	phlyctenulosis		ICD9:370.31|DOID:11581|UMLS:C0155080|SCTID:67895005	mondo.json	Phlyctenular keratoconjunctivitis|strumous ophthalmia	http://purl.obolibrary.org/obo/MONDO_0001317	http://identifiers.org/snomedct/67895005|DOID:11581|UMLS:C0155080	
MONDO:0015971	biolink:Disease	obsolete rare genetic adrenal disease		UMLS:CN200570|Orphanet:183637	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015971	Orphanet:183637|UMLS:CN200570	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0003979	biolink:Disease	intrahepatic bile duct cystadenoma	A mucinous cystic neoplasm that arises from the intrahepatic bile ducts.	NCIT:C96835|UMLS:C1334257|DOID:6733	mondo.json	intrahepatic bile duct cystadenoma|cystadenoma of the intrahepatic bile duct|intrahepatic bile duct mucinous cystic neoplasm	http://purl.obolibrary.org/obo/MONDO_0003979	UMLS:C1334257|NCIT:C96835|DOID:6733	
MONDO:0015970	biolink:Disease	obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder		Orphanet:183634|UMLS:CN200569	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015970	Orphanet:183634|UMLS:CN200569	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
HGNC:7488	biolink:NamedThing	MT-TI			mondo.json		http://identifiers.org/hgnc/7488		
HGNC:7487	biolink:NamedThing	MT-TH			mondo.json		http://identifiers.org/hgnc/7487		
MONDO:0003997	biolink:Disease	colon Kaposi sarcoma	A Kaposi sarcoma arising from the colon.	UMLS:C1333091|DOID:6804|NCIT:C5516	mondo.json	Kaposi's sarcoma (disease) of colon|colon Kaposi's sarcoma (disease)|colon Kaposi sarcoma|colon Kaposi's sarcoma|Kaposi's sarcoma of the colon|Kaposi's sarcoma of colon|colon Kaposis sarcoma|colonic Kaposi sarcoma|colonic Kaposi's sarcoma|colonic Kaposis sarcoma	http://purl.obolibrary.org/obo/MONDO_0003997	UMLS:C1333091|DOID:6804|NCIT:C5516	
MONDO:0001334	biolink:Disease	hypertrichosis of eyelid	A hypertrichosis (disease) that involves the eyelid.	SCTID:79830009|DOID:11669|ICD9:374.54|UMLS:C0155213	mondo.json	hypertrichosis (disease) of eyelid|eyelid hypertrichosis (disease)	http://purl.obolibrary.org/obo/MONDO_0001334	http://identifiers.org/snomedct/79830009|UMLS:C0155213|DOID:11669	
MONDO:0003998	biolink:Disease	obsolete vaginal tubular adenoma	OBSOLETE. An adenoma that arises from the vagina and is characterized by a tubular architectural pattern.	UMLS:C1519932|NCIT:C40257|DOID:6809	mondo.json	vaginal tubular adenoma	http://purl.obolibrary.org/obo/MONDO_0003998	NCIT:C40257|DOID:6809|UMLS:C1519932	
MONDO:0001333	biolink:Disease	obsolete Patau syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001333		
MONDO:0001332	biolink:Disease	palindromic rheumatism	A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results in no joint damage or symptoms.	ICD9:719.31|ICD9:719.38|SCTID:50442003|ICD9:719.36|ICD9:719.33|ICD9:719.32|DOID:1166|MESH:C538103|ICD9:719.30|GARD:0007304|UMLS:C0085574|ICD10CM:M12.3|ICD9:719.3	mondo.json	Hench-Rosenberg syndrome|Hench's syndrome	http://purl.obolibrary.org/obo/MONDO_0001332	http://identifiers.org/mesh/C538103|UMLS:C0085574|http://identifiers.org/snomedct/50442003|http://purl.bioontology.org/ontology/ICD10CM/M12.3|DOID:1166	
MONDO:0003999	biolink:Disease	juvenile pilocytic astrocytoma	A pilocytic astrocytoma that occurs during adolescence.	DOID:6811|UMLS:C0280783|NCIT:C27081	mondo.json	juvenile pilocytic astrocytoma	http://purl.obolibrary.org/obo/MONDO_0003999	DOID:6811|NCIT:C27081|UMLS:C0280783	
MONDO:0001331	biolink:Disease	conjunctival deposit		ICD9:372.56|SCTID:62660000|UMLS:C0162280|DOID:11653	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001331	UMLS:C0162280|http://identifiers.org/snomedct/62660000|DOID:11653	
MONDO:0003993	biolink:Disease	childhood vagina botryoid rhabdomyosarcoma	A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.	UMLS:C1332945|DOID:6787|NCIT:C35556	mondo.json	pediatric botryoid-type embryonal rhabdomyosarcoma of the vagina|childhood botryoid-type embryonal rhabdomyosarcoma of the vagina|vaginal childhood botryoid-type embryonal rhabdomyosarcoma|childhood sarcoma Botryoides of the vagina|botryoid-type embryonal rhabdomyosarcoma of the vagina of childhood|vaginal childhood sarcoma Botryoides	http://purl.obolibrary.org/obo/MONDO_0003993	NCIT:C35556|DOID:6787|UMLS:C1332945	
MONDO:0001338	biolink:Disease	acute apical periodontitis		SCTID:718053009|DOID:11693|ICD10CM:K04.4|ICD9:522.4|UMLS:C4084770	mondo.json	acute apical periodontitis of pulpal origin	http://purl.obolibrary.org/obo/MONDO_0001338	DOID:11693|http://purl.bioontology.org/ontology/ICD10CM/K04.4|http://identifiers.org/snomedct/718053009|UMLS:C4084770	
UBERON:0010171	biolink:AnatomicalEntity	strand of hair of face			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010171		
PO:0009009	biolink:NamedThing	plant embryo	A whole plant (PO:0000003) that participates in the plant embryo stage (PO:0007631).	PO_GIT:92	mondo.json	germ (related)|植物胚 (Japanese, exact)|embryo (broad)|embri&#243n (Spanish, exact)	http://purl.obolibrary.org/obo/PO_0009009		
MONDO:0003994	biolink:Disease	botryoid-type embryonal rhabdomyosarcoma of the vagina	A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.	UMLS:C1511275|DOID:6788|NCIT:C40268	mondo.json	sarcoma Botryoides of the vagina|botryoid rhabdomyosarcoma of vagina|vagina botryoid rhabdomyosarcoma|botryoid-type embryonal rhabdomyosarcoma of the vagina	http://purl.obolibrary.org/obo/MONDO_0003994	NCIT:C40268|DOID:6788|UMLS:C1511275	
MONDO:0001337	biolink:Disease	inflamed seborrheic keratosis		UMLS:C0376117|SCTID:442348004|ICD10CM:L82.0|ICD9:702.11|DOID:11685	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001337	http://identifiers.org/snomedct/442348004|http://purl.bioontology.org/ontology/ICD10CM/L82.0|DOID:11685|UMLS:C0376117	
UBERON:0010172	biolink:AnatomicalEntity	bulb of aorta			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010172		
MONDO:0001336	biolink:Disease	familial hyperlipidemia	An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome.	MESH:D006949|UMLS:C0020476|DOID:1168|UMLS:C0020473|SCTID:55822004|NCIT:C34709|ICD10CM:E78.5	mondo.json	hyperlipemia|familial hyperlipoproteinemia|familial hyperlipemia|hyperlipidaemia|hereditary hyperlipidemia (disease)	http://purl.obolibrary.org/obo/MONDO_0001336	DOID:1168	
MONDO:0003995	biolink:Disease	vulvar childhood botryoid-type embryonal rhabdomyosarcoma	A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vulva. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.	NCIT:C36098|DOID:6789|UMLS:C1332946	mondo.json	childhood sarcoma Botryoides of the vulva|mammalian vulva childhood botryoid rhabdomyosarcoma|vulvar childhood botryoid-type embryonal rhabdomyosarcoma|childhood botryoid-type embryonal rhabdomyosarcoma of the vulva|childhood botryoid rhabdomyosarcoma of mammalian vulva	http://purl.obolibrary.org/obo/MONDO_0003995	DOID:6789|UMLS:C1332946|NCIT:C36098	
MONDO:0001335	biolink:Disease	hypotrichosis of eyelid	A hypotrichosis that involves the eyelid.	ICD9:374.55|DOID:11671|SCTID:70738004|UMLS:C0155214	mondo.json	eyelid hypotrichosis	http://purl.obolibrary.org/obo/MONDO_0001335	http://identifiers.org/snomedct/70738004|UMLS:C0155214|DOID:11671	
MONDO:0003996	biolink:Disease	basal ganglia disorder	A disease involving the basal ganglia.	CSP:2057-3403|UMLS:C0004782|ICD9:333.0|MESH:D001480|DOID:679|SCTID:70835005	mondo.json	collection of basal ganglia disease or disorder|disease of collection of basal ganglia|disorder of basal ganglia|basal ganglia disease|disorder of collection of basal ganglia|disease of basal ganglia|collection of basal ganglia disease|disease or disorder of collection of basal ganglia	http://purl.obolibrary.org/obo/MONDO_0003996	http://identifiers.org/mesh/D001480|DOID:679|http://identifiers.org/snomedct/70835005|UMLS:C0004782	
HGNC:7490	biolink:NamedThing	MT-TL1			mondo.json		http://identifiers.org/hgnc/7490		
MONDO:0003990	biolink:Disease	malignant breast myoepithelioma	An invasive malignant tumor that arises from the breast. It is characterized by the presence of spindle-shaped myoepithelial cells. Mitoses are present. Rarely, local recurrences and distant metastases have been reported.	UMLS:C1518167|DOID:6776|NCIT:C40395	mondo.json	malignant breast myoepithelioma|breast myoepithelial carcinoma|breast malignant myoepithelioma	http://purl.obolibrary.org/obo/MONDO_0003990	DOID:6776|UMLS:C1518167|NCIT:C40395	
MONDO:0015959	biolink:Disease	obsolete inherited syndrome with bone tumors as a major feature		UMLS:CN200554|Orphanet:183527	mondo.json	genetic bone tumor	http://purl.obolibrary.org/obo/MONDO_0015959	Orphanet:183527|UMLS:CN200554	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0003991	biolink:Disease	villoglandular endometrial endometrioid adenocarcinoma	A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of numerous finger-like villi lined by neoplastic columnar cells.	DOID:6777|NCIT:C27846|UMLS:C1336962	mondo.json	villoglandular endometrial endometrioid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003991	DOID:6777|NCIT:C27846|UMLS:C1336962	
MONDO:0015958	biolink:Disease	obsolete rare genetic bone disease	OBSOLETE. Rare genetic bone disease.	Orphanet:183524|UMLS:CN200553	mondo.json	rare genetic bone disease	http://purl.obolibrary.org/obo/MONDO_0015958	Orphanet:183524|UMLS:CN200553	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0003992	biolink:Disease	childhood botryoid rhabdomyosarcoma	A morphologic variant of embryonal rhabdomyosarcoma occurring in children. The tumor arises from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.	NCIT:C35574|DOID:6786|UMLS:C1332944	mondo.json	pediatric botryoid rhabdomyosarcoma|childhood botryoid-type embryonal rhabdomyosarcoma|botryoid-type embryonal rhabdomyosarcoma|botryoid rhabdomyosarcoma of childhood|childhood sarcoma Botryoides	http://purl.obolibrary.org/obo/MONDO_0003992	DOID:6786|NCIT:C35574|UMLS:C1332944	
MONDO:0001330	biolink:Disease	presbyopia	The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation.	ICD10CM:H52.4|ICD9:367.4|DOID:11638|MESH:D011305|SCTID:41256004|UMLS:C0033075	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001330	http://identifiers.org/snomedct/41256004|http://purl.bioontology.org/ontology/ICD10CM/H52.4|http://identifiers.org/mesh/D011305|UMLS:C0033075|DOID:11638	
MONDO:0013301	biolink:Disease	aromatase deficiency	Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.	NCIT:C120144|OMIM:613546|MESH:C537436|Orphanet:91|GARD:0000365|UMLS:C1960539	mondo.json	pseudohermaphroditism, female, due to placental aromatase deficiency|congenital estrogen deficiency|aromatase deficiency	http://purl.obolibrary.org/obo/MONDO_0013301	https://omim.org/entry/613546|Orphanet:91|NCIT:C120144|http://identifiers.org/mesh/C537436|UMLS:C1960539	gard_rare|ordo_disease
MONDO:0015964	biolink:Disease	obsolete obsolete rare genetic palpebral, lacrimal system and conjunctival disease		Orphanet:183598|UMLS:CN200563	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015964	Orphanet:183598|UMLS:CN200563	
MONDO:0013302	biolink:Disease	nephronophthisis 11	A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.	DOID:0111118|OMIM:613550|UMLS:C3150796	mondo.json	NPHP11|nephronophthisis type 11|nephronophthisis 11	http://purl.obolibrary.org/obo/MONDO_0013302	https://omim.org/entry/613550|DOID:0111118|UMLS:C3150796	
MONDO:0015963	biolink:Disease	obsolete inherited renal tumor		Orphanet:183595|UMLS:CN200562	mondo.json	genetic renal tumor	http://purl.obolibrary.org/obo/MONDO_0015963	Orphanet:183595|UMLS:CN200562	disease_grouping|ordo_group_of_disorders
PO:0009010	biolink:NamedThing	seed	A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088).	PO_GIT:405	mondo.json	semilla (Spanish, exact)|diaspore (broad)|種子 (Japanese, exact)|pyrene (narrow)	http://purl.obolibrary.org/obo/PO_0009010		Tomato|Rice|Citrus|Poaceae|TraitNet|Arabidopsis|Gymnosperms|Maize|Angiosperm
MONDO:0015962	biolink:Disease	inherited renal tubular disease		Orphanet:183592|UMLS:CN200561	mondo.json	genetic renal tubular disease	http://purl.obolibrary.org/obo/MONDO_0015962	Orphanet:183592|UMLS:CN200561	ordo_group_of_disorders|disease_grouping
MONDO:0013300	biolink:Disease	commissural facial cleft	Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)	SCTID:40159009|ICD9:744.83|OMIM:613545|Orphanet:141276|MESH:D008265	mondo.json	macrostomia, isolated|lateral cleft, isolated|commissural cleft, isolated|macrostomia|transverse cleft, isolated	http://purl.obolibrary.org/obo/MONDO_0013300	https://omim.org/entry/613545|Orphanet:141276|http://identifiers.org/mesh/D008265|http://identifiers.org/snomedct/40159009	ordo_morphological_anomaly
MONDO:0015961	biolink:Disease	genetic head and neck malformation		Orphanet:183583	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015961	Orphanet:183583	disease_grouping|ordo_group_of_disorders
PO:0009011	biolink:NamedThing	plant structure	A plant anatomical entity (PO:0025131) that is, or was, part of a plant, or was derived from a part of a plant.	PO_GIT:57	mondo.json	植物 構造 (Japanese, exact)|estructura vegetal (Spanish, exact)	http://purl.obolibrary.org/obo/PO_0009011		TraitNet
MONDO:0013305	biolink:Disease	autosomal dominant nonsyndromic hearing loss 51	An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.	UMLS:C3160736|OMIM:613558|DOID:0110577	mondo.json	deafness, autosomal dominant 51|deafness, autosomal dominant type 51|autosomal dominant deafness 51|autosomal dominant nonsyndromic deafness type 51|chromosome 9q21.11 duplication syndrome|chromosome 9Q21.11 Duplication syndrome|autosomal dominant nonsyndromic deafness 51|DFNA51	http://purl.obolibrary.org/obo/MONDO_0013305	UMLS:C3160736|https://omim.org/entry/613558|DOID:0110577	
MONDO:0015968	biolink:Disease	obsolete rare genetic hypothalamic or pituitary disease		UMLS:CN200567|Orphanet:183628	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015968	Orphanet:183628|UMLS:CN200567	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0013306	biolink:Disease	combined oxidative phosphorylation defect type 7	Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.	Orphanet:254930|DOID:0111487|UMLS:C3150801|OMIM:613559|SCTID:763204003	mondo.json	C12orf65 combined oxidative phosphorylation deficiency|C12ORF65 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 7|COXPD7|severe C12ORF65-related combined oxidative phosphorylation defect|severe C12ORF65-related COXPD|combined oxidative phosphorylation deficiency caused by mutation in C12ORF65|combined oxidative phosphorylation deficiency caused by mutation in C12orf65|combined oxidative phosphorylation deficiency 7	http://purl.obolibrary.org/obo/MONDO_0013306	https://omim.org/entry/613559|http://identifiers.org/snomedct/763204003|DOID:0111487|Orphanet:254930|UMLS:C3150801	ordo_disease
MONDO:0015967	biolink:Disease	monogenic diabetes	Rare genetic diabetes mellitus.	Orphanet:183625	mondo.json	rare genetic diabetes mellitus|monogenic diabetes	http://purl.obolibrary.org/obo/MONDO_0015967	Orphanet:183625	ordo_group_of_disorders|disease_grouping
MONDO:0013303	biolink:Disease	autoimmune disease, susceptibility to, 6	Any autoimmune disease in which the cause of the disease is a mutation in the SIAE gene.	OMIM:613551	mondo.json	autoimmune disease, susceptibility to, type 6|autoimmune disease caused by mutation in SIAE|SIAE autoimmune disease|susceptibility to autoimmune disease 6|autoimmune disease, susceptibility to, 6|AIS6	http://purl.obolibrary.org/obo/MONDO_0013303	https://omim.org/entry/613551	predisposition
MONDO:0015966	biolink:Disease	obsolete hereditary eye tumor		UMLS:CN200566|Orphanet:183619	mondo.json	genetic eye tumor	http://purl.obolibrary.org/obo/MONDO_0015966	Orphanet:183619|UMLS:CN200566	ordo_group_of_disorders|disease_grouping
MONDO:0013304	biolink:Disease	von Willebrand disease 2	Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF).	SCTID:128107007|Orphanet:166081|OMIM:613554|DOID:0060574|MESH:D056728|UMLS:C1264040	mondo.json	von Willebrand's disease type 2|von willebrand's disease 2|VWD type 2|VWD2|Von Willebrand disease, type 2|Von Willebrand disease, type 2B|von Willebrand disease type 2|Von Willebrand disease, type 2A|von Willebrand disease type II|VON WILLEBRAND disease, type 2|von Willebrand disease, types 2A, 2B, 2M, and 2N|von Willebrand disease 2|VWD, type 2|Von Willebrand disease, type 2N|Von Willebrand disease, type 2M	http://purl.obolibrary.org/obo/MONDO_0013304	DOID:0060574|https://omim.org/entry/613554|Orphanet:166081|http://identifiers.org/snomedct/128107007|http://identifiers.org/mesh/D056728|UMLS:C1264040	ordo_clinical_subtype
MONDO:0015965	biolink:Disease	obsolete rare genetic refraction anomaly		UMLS:CN226813|Orphanet:183601	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015965	Orphanet:183601|UMLS:CN226813	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
NCBITaxon:2731361	biolink:OrganismalEntity	Peploviricota		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2731361		
HGNC:7493	biolink:NamedThing	MT-TN			mondo.json		http://identifiers.org/hgnc/7493		
MONDO:0001329	biolink:Disease	accommodative spasm		UMLS:C0152196|ICD9:367.53|SCTID:30069002|DOID:11637	mondo.json	spasm of accommodation	http://purl.obolibrary.org/obo/MONDO_0001329	DOID:11637|http://identifiers.org/snomedct/30069002|UMLS:C0152196	
HGNC:7495	biolink:NamedThing	MT-TQ			mondo.json		http://identifiers.org/hgnc/7495		
MONDO:0001328	biolink:Disease	thyroid hormone resistance syndrome	An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine.	ICD9:259.8|MESH:D018382|SCTID:111567006|UMLS:CN118820|DOID:11633	mondo.json	RTH|thyroid hormone resistance syndrome|thyroid hormone resistance|thyroid hormone responsiveness defect|resistance to thyrotropin|resistance to thyroid stimulating hormone|generalized thyroid hormone resistance|TSH resistance	http://purl.obolibrary.org/obo/MONDO_0001328	http://identifiers.org/snomedct/111567006|DOID:11633|UMLS:CN118820|http://identifiers.org/mesh/D018382	
HGNC:7494	biolink:NamedThing	MT-TP			mondo.json		http://identifiers.org/hgnc/7494		
NCBITaxon:2731360	biolink:OrganismalEntity	Heunggongvirae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2731360		
PO:0009012	biolink:NamedThing	plant structure development stage	A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes.	PO_GIT:185	mondo.json	plant growth and development stage (exact)|etapa de desarrollo de estructura vegetal (Spanish, exact)|Arabidopsis growth (related)	http://purl.obolibrary.org/obo/PO_0009012		TraitNet
MONDO:0015960	biolink:Disease	obsolete rare genetic developmental defect during embryogenesis		Orphanet:183530|UMLS:CN226804	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015960	Orphanet:183530|UMLS:CN226804	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
HGNC:7497	biolink:NamedThing	MT-TS1			mondo.json		http://identifiers.org/hgnc/7497		
PO:0009013	biolink:NamedThing	portion of meristem tissue	A portion of plant tissue (PO:0009007) in which plant cells (PO:0009002) have retained their embryonic characteristics, or have reverted to them secondarily, and that divide to produce new cells that can undergo differentiation to form mature tissues, i.e. they have a capacity for morphogenesis and growth.	PO_GIT:472	mondo.json	分裂組織 (Japanese, exact)|meristematic tissue (exact)|meristema (Spanish, exact)|meristem (exact)	http://purl.obolibrary.org/obo/PO_0009013		TraitNet
NCBITaxon:2731363	biolink:OrganismalEntity	Herviviricetes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2731363		
HGNC:7499	biolink:NamedThing	MT-TT			mondo.json		http://identifiers.org/hgnc/7499		
HGNC:7498	biolink:NamedThing	MT-TS2			mondo.json		http://identifiers.org/hgnc/7498		
MONDO:0001301	biolink:Disease	rumination disorder	Rumination disorder is the backward flow of recently eaten food from the stomach to the mouth. The food is then re-chewed and swallowed or spat out. A non-purposeful contraction of stomach muscles is involved in rumination. It may be initially triggered by a viral illness, emotional distress, or physical injury. In many cases, no underlying trigger is identified. Behavioral therapy is the mainstay of treatment.	ICD9:307.53|NCIT:C92567|GARD:0007594|DOID:11507|MESH:D019959|SCTID:192014006	mondo.json	psychogenic rumination|rumination|rumination syndrome	http://purl.obolibrary.org/obo/MONDO_0001301	http://identifiers.org/mesh/D019959|DOID:11507|http://identifiers.org/snomedct/192014006|NCIT:C92567	gard_rare
MONDO:0003964	biolink:Disease	myositis ossificans	A disorder characterized by non-neoplastic bone formation in soft tissues. It usually follows blunt trauma and bleeding in the deep soft tissues.	UMLS:C0027122|NCIT:C3253|DOID:668|MESH:D009221	mondo.json	myositis ossificans progressiva|ossification - muscle|Myisitis ossificans|FOP|progressive myositis ossificans|fibrodysplasia ossificans progressiva|progressive ossifying myositis	http://purl.obolibrary.org/obo/MONDO_0003964	NCIT:C3253|UMLS:C0027122|http://identifiers.org/mesh/D009221|DOID:668	
MONDO:0003965	biolink:Disease	Capgras syndrome	A rare neuropsychiatric disorder whose primary feature is the delusion that relatives or close acquaintances are not the persons that they are known to be. Visual recognition appears intact but familiar persons are thought be imposters, that is, they appear similar or identical to known individuals but are not. Most cases are seen in the context of a psychotic state. However, if manifested post-traumatically, the cause is most likely due to neurologic impairment. This disorder should be contrasted with prosopagnosia, in which an individual may not recognize a familiar person at all.	MESH:D002194|DOID:6680|NCIT:C34446	mondo.json	Capgras delusion theory	http://purl.obolibrary.org/obo/MONDO_0003965	http://identifiers.org/mesh/D002194|DOID:6680|NCIT:C34446	
MONDO:0001300	biolink:Disease	autonomic neuropathy	An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. It results in disruption of the involuntary body functions. Inherited causes include Fabry disease and porphyrias. Acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities.	UMLS:C0259749|SCTID:277879009|CSP:2049-9000|CSP:2042-2001|NCIT:C27033|DOID:11504|DOID:0060054	mondo.json	autonomic nervous system peripheral neuropathy|autonomic peripheral neuropathy|peripheral neuropathy of autonomic nervous system	http://purl.obolibrary.org/obo/MONDO_0001300	http://identifiers.org/snomedct/277879009|DOID:11504|NCIT:C27033|DOID:0060054|UMLS:C0259749	
MONDO:0003966	biolink:Disease	testicular monophasic choriocarcinoma	A choriocarcinoma that arises from the testis and is characterized by the predominance of cytotrophoblastic and intermediate trophoblastic cells. Syncytiotrophoblastic cells are absent or not prominent.	DOID:6693|NCIT:C39935|UMLS:C1515290	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003966	NCIT:C39935|UMLS:C1515290|DOID:6693	
MONDO:0003967	biolink:Disease	synchronous multifocal osteogenic sarcoma	A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered within 6 months of the appearance of the initial tumor. It has a poor prognosis.	NCIT:C6471|DOID:6696|UMLS:C1336544	mondo.json	synchronous multifocal osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0003967	NCIT:C6471|UMLS:C1336544|DOID:6696	
GO:1990731	biolink:NamedThing	UV-damage excision repair, DNA incision	A process that results in the endonucleolytic cleavage of the damaged strand of DNA immediately 5' of a UV-induced damage site, and is the first part of a DNA repair process that acts on both cyclobutane pyrimidine dimers (CPDs) and pyrimidine-pyrimidone 6-4 photoproducts (6-4PPs).		mondo.json	DNA incision involved in alternative excision repair|DNA incision involved in UVDE-dependent excision repair|DNA incision involved in UV-damaged DNA endonuclease-dependent excision repair|nucleic acid cleavage involved in UV-damage excision repair|DNA incision involved in UVER|alternative excision repair, DNA incision|DNA incision involved in UV-damage excision repair|DNA incision involved in AER|UV-damaged DNA endonuclease-dependent excision repair, DNA incision|UVDE-dependent excision repair, DNA incision	http://purl.obolibrary.org/obo/GO_1990731		
MONDO:0003960	biolink:Disease	pulmonary large cell neuroendocrine carcinoma	A large cell neuroendocrine carcinoma that involves the lung(s).	NCIT:C5672|DOID:6658|UMLS:C1334363	mondo.json	large cell lung carcinoma with neuroendocrine differentiation|large cell lung neuroendocrine carcinoma|large cell neuroendocrine carcinoma of lung|large cell neuroendocrine carcinoma of the lung|lung large cell neuroendocrine carcinoma|LCNEC of the lung|pulmonary large cell neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0003960	NCIT:C5672|UMLS:C1334363|DOID:6658	
MONDO:0001305	biolink:Disease	laryngostenosis	Narrowing of the laryngeal airway.	SCTID:75547007|UMLS:C0023075|ICD9:478.74|ICD10CM:J38.6|DOID:11527|HP:0001602|MESH:D007829	mondo.json	stenosis of larynx	http://purl.obolibrary.org/obo/MONDO_0001305	http://identifiers.org/mesh/D007829|DOID:11527|http://identifiers.org/snomedct/75547007|http://purl.bioontology.org/ontology/ICD10CM/J38.6|UMLS:C0023075	
UBERON:0010160	biolink:AnatomicalEntity	lumen of lymphatic vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010160		
MONDO:0001304	biolink:Disease	benign hypertensive renal disease		ICD9:403.10|SCTID:193003|DOID:11520|ICD9:403.1|UMLS:C0155596	mondo.json	hypertensive renal disease, benign|hypertensive renal disease, benign, without mention of renal failure	http://purl.obolibrary.org/obo/MONDO_0001304	UMLS:C0155596|http://identifiers.org/snomedct/193003|DOID:11520	
MONDO:0003961	biolink:Disease	obsolete cervical large cell neuroendocrine carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003961		
UBERON:0010161	biolink:AnatomicalEntity	lumen of blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010161		
MONDO:0003962	biolink:Disease	Froelich syndrome	Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired(i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today.	GARD:0006463|ICD9:253.8|SCTID:62999006|DOID:6676|NCIT:C34625	mondo.json	Babinski-Froelich syndrome|Froehlich syndrome|sexual infantilism|adiposogenital dystrophy|Fröhlich syndrome|Frolich's syndrome|hypothalamic infantilism-obesity|Froelich's adiposity|Frohlich's syndrome|Froelich's syndrome|dystrophia Adiposogenitalis|Frohlich syndrome|Launois-Cleret syndrome|Froehlich's syndrome|Adiposodysgenesis|adiposogenital syndrome	http://purl.obolibrary.org/obo/MONDO_0003962	DOID:6676|http://identifiers.org/snomedct/62999006|NCIT:C34625	gard_rare
MONDO:0001303	biolink:Disease	abnormal pupillary function		HP:0007686|ICD9:379.40|SCTID:72124005|DOID:11518|ICD9:379.49	mondo.json	abnormal pupillary function|abnormal pupillary function (disease)	http://purl.obolibrary.org/obo/MONDO_0001303	DOID:11518|http://identifiers.org/snomedct/72124005	
MONDO:0003963	biolink:Disease	diffuse infiltrative lymphocytosis syndrome	This is usually an oligoclonal CD8+ lymphocytic infiltration of various organs.	NCIT:C35699|UMLS:C1333292|SCTID:449784008|DOID:6677	mondo.json	diffuse infiltra. lymph. syndrome|diffuse infiltra. lymph. sydrome	http://purl.obolibrary.org/obo/MONDO_0003963	UMLS:C1333292|NCIT:C35699|DOID:6677|http://identifiers.org/snomedct/449784008	
MONDO:0001302	biolink:Disease	hypertensive heart disease	Abnormal enlargement of the heart resulting from long-standing hypertension.	ICD9:402|SCTID:64715009|ICD9:402.9|DOID:11516|NCIT:C4907|UMLS:C0152105	mondo.json	hypertensive cardiomegaly|hypertensive cardiovascular disease|hypertensive heart disease|hypertensive cardiopathy	http://purl.obolibrary.org/obo/MONDO_0001302	http://identifiers.org/snomedct/64715009|DOID:11516|UMLS:C0152105|NCIT:C4907	
UBERON:0010164	biolink:AnatomicalEntity	collection of hairs			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010164		
MONDO:0015949	biolink:Disease	obsolete rare genetic subcutaneous tissue disorder		UMLS:CN200546|Orphanet:183484	mondo.json	genetic subcutaneous tissue disorder	http://purl.obolibrary.org/obo/MONDO_0015949	Orphanet:183484|UMLS:CN200546	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
UBERON:0010165	biolink:AnatomicalEntity	collection of hair on face			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010165		
MONDO:0015948	biolink:Disease	obsolete rare genetic skin vascular disorder		UMLS:CN200545|Orphanet:183478	mondo.json	genetic skin vascular disorder	http://purl.obolibrary.org/obo/MONDO_0015948	Orphanet:183478|UMLS:CN200545	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
UBERON:0010162	biolink:AnatomicalEntity	post-anal tail tip			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010162		
MONDO:0015947	biolink:Disease	inherited ichthyosis	Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome.	ICD10CM:Q80|Orphanet:183435|SCTID:13059002|ICD9:757.1|MedDRA:10021202	mondo.json	congenital ichthyosis|fish scale disease|ichthyosis congenita|congenital ichthyosis of skin|genetic ichthyosis|inherited genetic ichthyosis|hereditary ichthyosis (disease)|fish skin	http://purl.obolibrary.org/obo/MONDO_0015947	http://purl.bioontology.org/ontology/ICD10CM/Q80|Orphanet:183435|http://identifiers.org/snomedct/13059002	ordo_group_of_disorders|disease_grouping
UBERON:0010167	biolink:AnatomicalEntity	beard			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010167		
MONDO:0015953	biolink:Disease	obsolete genetic central nervous system and retinal vascular disease		UMLS:CN200550|Orphanet:183503	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015953	Orphanet:183503|UMLS:CN200550	ordo_group_of_disorders
MONDO:0015952	biolink:Disease	obsolete genetic neurodegenerative disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015952		
MONDO:0015951	biolink:Disease	hereditary photodermatosis	Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies.	Orphanet:183490	mondo.json	genetic skin photosensitivity|genetic photosensitivity|photogenodermatosis|photogénodermatose	http://purl.obolibrary.org/obo/MONDO_0015951	Orphanet:183490	ordo_group_of_disorders|disease_grouping
MONDO:0015950	biolink:Disease	inherited skin tumor		UMLS:CN200547|Orphanet:183487	mondo.json	genetic skin tumor	http://purl.obolibrary.org/obo/MONDO_0015950	Orphanet:183487|UMLS:CN200547	disease_grouping|ordo_group_of_disorders
MONDO:0015957	biolink:Disease	obsolete rare genetic movement disorder	OBSOLETE. Rare genetic movement disorder.	Orphanet:183521|UMLS:CN226803	mondo.json	rare genetic movement disorder	http://purl.obolibrary.org/obo/MONDO_0015957	Orphanet:183521|UMLS:CN226803	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0015956	biolink:Disease	obsolete rare hereditary ataxia	OBSOLETE. Rare hereditary ataxia.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0015956		
MONDO:0015955	biolink:Disease	obsolete rare genetic epilepsy	OBSOLETE. A form of epilepsy that is both rare and inborn.	Orphanet:183512|UMLS:CN226802	mondo.json	rare genetic epilepsy	http://purl.obolibrary.org/obo/MONDO_0015955	Orphanet:183512|UMLS:CN226802	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0015954	biolink:Disease	obsolete rare genetic headache disorder		Orphanet:183509|UMLS:CN226801	mondo.json	rare genetic headache	http://purl.obolibrary.org/obo/MONDO_0015954	Orphanet:183509|UMLS:CN226801	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
PO:0009006	biolink:NamedThing	shoot system	A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them.	PO_GIT:135	mondo.json	thallus (related)|シュート系、苗条系 (Japanese, exact)|tree crown (narrow)|sistema de epiblasto (epiblastema) (Spanish, exact)|shoot (related)|Poaceae crown (related)|thalli (related)	http://purl.obolibrary.org/obo/PO_0009006		TraitNet|reference
MONDO:0027929	biolink:Disease	obsolete genetic polycythemia		Orphanet:250165	mondo.json		http://purl.obolibrary.org/obo/MONDO_0027929	Orphanet:250165	
PO:0009007	biolink:NamedThing	portion of plant tissue	A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types.	PO_GIT:59	mondo.json	plant tissue (related)|portion of tissue (broad)|tissue (broad)|porci&#243n de un tejido vegetal (Spanish, exact)|植物組織の一部 (Japanese, exact)	http://purl.obolibrary.org/obo/PO_0009007		reference|TraitNet
PO:0009008	biolink:NamedThing	plant organ	A multi-tissue plant structure (PO:0025496) that is a functional unit, is a proper part of a whole plant (PO:0000003), and includes portions of plant tissue (PO:0009007) of at least two different types that derive from a common developmental path.	PO_GIT:55	mondo.json	植物 器官 (Japanese, exact)|compound plant organ (related)|organ (broad)|simple plant organ (related)|&#243rgano vegetal (Spanish, exact)	http://purl.obolibrary.org/obo/PO_0009008		TraitNet
PO:0009001	biolink:NamedThing	fruit	A multi-tissue plant structure (PO:0025496) that develops from a gynoecium (PO:0009062), or a single carpel (PO:0009030), and at maturity may have as parts one or more seeds (PO:0009010).	PO_GIT:76	mondo.json	syncarp (narrow)|dehiscent fruit  (broad)|coenocarp (narrow)|compound fruit  (broad)|aggregate fruit  (broad)|果実 (exact, Japanese)|multiple fruit  (broad)|propagule  (broad)|frucht (exact, German)|fruto (exact, Spanish)|indehiscent fruit  (broad)|diaspore  (broad)	http://purl.obolibrary.org/obo/PO_0009001		Rice|Poaceae|TraitNet|Arabidopsis|Maize|Angiosperm
MONDO:0003957	biolink:Disease	adult pineoblastoma	A pineoblastoma occurring in adults.	NCIT:C8292|UMLS:C0281332|DOID:6648	mondo.json	adult pineoblastoma|pineoblastoma of adults|pineoblastoma	http://purl.obolibrary.org/obo/MONDO_0003957	DOID:6648|NCIT:C8292|UMLS:C0281332	
PO:0009002	biolink:NamedThing	plant cell	A cell which is a plant structure (PO:0009011).	PO_GIT:56|GO:0005623	mondo.json	c&#233lula vegetal (Spanish, exact)|cell (broad)|植物細胞 (Japanese, exact)	http://purl.obolibrary.org/obo/PO_0009002		CL|TraitNet|reference
MONDO:0003958	biolink:Disease	childhood central nervous system immature teratoma	An immature teratoma that arises from the central nervous system and occurs during childhood.	DOID:6654|NCIT:C27405|UMLS:C1332954	mondo.json	pediatric central nervous system immature teratoma|childhood central nervous system immature teratoma|central nervous system immature teratoma of childhood	http://purl.obolibrary.org/obo/MONDO_0003958	NCIT:C27405|DOID:6654|UMLS:C1332954	
MONDO:0003959	biolink:Disease	breast large cell neuroendocrine carcinoma	A poorly differentiated neuroendocrine carcinoma that arises from the breast. It is characterized by the presence of large neuroendocrine cells and high mitotic activity.	NCIT:C40356|UMLS:C1511316|DOID:6657	mondo.json	breast large cell neuroendocrine carcinoma|large cell neuroendocrine carcinoma of breast	http://purl.obolibrary.org/obo/MONDO_0003959	UMLS:C1511316|NCIT:C40356|DOID:6657	
MONDO:0001312	biolink:Disease	acute serous otitis media	A acute transudative otitis media with thin, watery and sterile effusion.	SCTID:194240006|ICD9:381.01|ICD10CM:H65.0|DOID:11557|UMLS:C0155415	mondo.json	acute non-suppurative otitis media - serous	http://purl.obolibrary.org/obo/MONDO_0001312	DOID:11557|http://identifiers.org/snomedct/194240006|http://purl.bioontology.org/ontology/ICD10CM/H65.0|UMLS:C0155415	
MONDO:0003975	biolink:Disease	Littre gland carcinoma	A carcinoma involving a male urethral gland.	NCIT:C39865|UMLS:C1516285|DOID:6721	mondo.json	male urethral gland carcinoma|carcinoma of LittrC) glands|carcinoma of Littre glands|carcinoma of Littré glands|carcinoma of male urethral gland	http://purl.obolibrary.org/obo/MONDO_0003975	NCIT:C39865|UMLS:C1516285|DOID:6721	
MONDO:0003976	biolink:Disease	malignant type AB thymoma	A type AB thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize.	ICDO:8582/3|NCIT:C6886|UMLS:C1266093|DOID:6723	mondo.json	thymoma, mixed type, malignant|thymoma type AB, malignant|malignant thymoma type AB|malignant type AB thymoma	http://purl.obolibrary.org/obo/MONDO_0003976	NCIT:C6886|DOID:6723|UMLS:C1266093	
MONDO:0001311	biolink:Disease	obsolete Chandler syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001311		
MONDO:0001310	biolink:Disease	Bowman's membrane folds or rupture		DOID:11552|SCTID:45382000|ICD9:371.31|UMLS:C0155115	mondo.json	folds and/or rupture of bowman's membrane|Bowman membrane folds or rupture	http://purl.obolibrary.org/obo/MONDO_0001310	http://identifiers.org/snomedct/45382000|UMLS:C0155115|DOID:11552	
MONDO:0003977	biolink:Disease	obsolete fibrillary astrocytoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003977		
MONDO:0003978	biolink:Disease	colon small cell neuroendocrine carcinoma	An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon. It is characterized by the presence of malignant small cells.	NCIT:C6761|UMLS:C1333099|DOID:6727	mondo.json	small cell carcinoma of the colon|small cell carcinoma of colon|colon small cell neuroendocrine cancer|small cell colon carcinoma|Oat cell carcinoma of the colon|Oat cell carcinoma of colon|colonic Oat cell carcinoma|colon small cell neuroendocrine carcinoma|colonic small cell carcinoma|colon small cell carcinoma|colon Oat cell carcinoma|Oat cell colon carcinoma	http://purl.obolibrary.org/obo/MONDO_0003978	NCIT:C6761|UMLS:C1333099|DOID:6727	
MONDO:0001316	biolink:Disease	streptococcal meningitis	An infectious meningitis caused by infection with Streptococcus.	UMLS:C0154639|ICD10CM:G00.2|DOID:11574|ICD9:320.2|SCTID:4510004	mondo.json	Streptococcus infectious meningitis|Streptococcus caused infectious meningitis	http://purl.obolibrary.org/obo/MONDO_0001316	http://purl.bioontology.org/ontology/ICD10CM/G00.2|DOID:11574|UMLS:C0154639|http://identifiers.org/snomedct/4510004	
MONDO:0003971	biolink:Disease	gastric pylorus carcinoma	A carcinoma that arises from the pylorus.	NCIT:C6795|DOID:6703|UMLS:C1333787	mondo.json	gastric pylorus cancer|gastric pylorus carcinoma|cancer of the pylorus of the stomach|cancer of pylorus of stomach|carcinoma of pylorus of stomach|carcinoma of the pylorus of the stomach|gastric pylorus (stomach) cancer|carcinoma of the gastric pylorus|carcinoma of gastric pylorus|cancer of the gastric pylorus|cancer of gastric pylorus	http://purl.obolibrary.org/obo/MONDO_0003971	UMLS:C1333787|DOID:6703|NCIT:C6795	
MONDO:0001315	biolink:Disease	neurocirculatory asthenia	A clinical syndrome characterized by palpitation, shortness of breath, labored breathing, subjective complaints of effort and discomfort, all following slight physical exertion. Other symptoms may be dizziness, tremulousness, sweating, and insomnia. Neurocirculatory asthenia is most typically seen as a form of anxiety disorder.	ICD9:306.2|SCTID:191962000|MESH:D009449|DOID:11569	mondo.json	Krishaber's disease|cardiovascular neurosis|cardiovascular malfunction arising from mental factors|Da Costa's syndrome	http://purl.obolibrary.org/obo/MONDO_0001315	DOID:11569|http://identifiers.org/snomedct/191962000|http://identifiers.org/mesh/D009449	
MONDO:0003972	biolink:Disease	gastric body carcinoma	A carcinoma that arises from epithelial cells of the body of stomach.	DOID:6705|UMLS:C0345804|SCTID:254557000|NCIT:C8399	mondo.json	cancer of gastric body|carcinoma of gastric body|cancer of the gastric body|carcinoma of the gastric body|cancer of body of stomach|carcinoma of the body of the stomach|cancer of the body of the stomach|gastric body (stomach) cancer|carcinoma of body of stomach|body of stomach carcinoma|gastric body carcinoma|gastric body cancer	http://purl.obolibrary.org/obo/MONDO_0003972	DOID:6705|UMLS:C0345804|NCIT:C8399|http://identifiers.org/snomedct/254557000	
UBERON:0010150	biolink:AnatomicalEntity	duct of major vestibular gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010150		
MONDO:0003973	biolink:Disease	tubular variant testicular seminoma	A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in tubular patterns and few lymphocytes.	DOID:6706|NCIT:C40959|UMLS:C1515294	mondo.json	testicular seminoma, tubular variant	http://purl.obolibrary.org/obo/MONDO_0003973	UMLS:C1515294|DOID:6706|NCIT:C40959	
MONDO:0001314	biolink:Disease	chondrocalcinosis	An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints.	HP:0000934|SCTID:239832006|ICD9:275.49|MESH:D002805|DOID:1156|NCIT:C34955|ICD9:712.1	mondo.json	pseudogout|calcium pyrophosphate deposition disease	http://purl.obolibrary.org/obo/MONDO_0001314	http://identifiers.org/mesh/D002805|http://identifiers.org/snomedct/239832006|NCIT:C34955|DOID:1156	
MONDO:0001313	biolink:Disease	acute allergic serous otitis media	A acute serous otitis media caused by an allergen.	ICD9:381.04|UMLS:C0155418|SCTID:59275002|DOID:11558	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001313	DOID:11558|http://identifiers.org/snomedct/59275002|UMLS:C0155418	
MONDO:0003974	biolink:Disease	obsolete malignant triton tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003974		
MONDO:0015939	biolink:Disease	obsolete systemic autoimmune disease	OBSOLETE. An autoimmune form of systemic disease.	Orphanet:182228|UMLS:CN200529	mondo.json	autoimmune systemic disease	http://purl.obolibrary.org/obo/MONDO_0015939	UMLS:CN200529|Orphanet:182228	ordo_group_of_disorders|disease_grouping
MONDO:0015938	biolink:Disease	obsolete systemic disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015938		
MONDO:0015937	biolink:Disease	obsolete rare inflammatory eye disease		UMLS:CN200527|Orphanet:182214	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015937	Orphanet:182214|UMLS:CN200527	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
UBERON:0010151	biolink:AnatomicalEntity	duct of bulbourethral gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010151		
MONDO:0015936	biolink:Disease	obsolete rare tumor of endocrine glands	OBSOLETE. A rare tumor that involves the endocrine gland.	MedDRA:10061121|Orphanet:182130	mondo.json	endocrine gland rare tumor|tumor of endocrine glands	http://purl.obolibrary.org/obo/MONDO_0015936	Orphanet:182130	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0003970	biolink:Disease	gastric fundus carcinoma	A carcinoma that arises from epithelial cells of the fundus of stomach.	UMLS:C0345799|NCIT:C8398|DOID:6700|SCTID:254555008	mondo.json	carcinoma of the fundus of the stomach|cancer of fundus of stomach|carcinoma of fundus of stomach|cancer of gastric fundus|fundus of stomach carcinoma|cancer of the gastric fundus|gastric fundus cancer|carcinoma of gastric fundus|gastric fundus (stomach) cancer|cancer of the fundus of the stomach|carcinoma of the gastric fundus	http://purl.obolibrary.org/obo/MONDO_0003970	UMLS:C0345799|DOID:6700|NCIT:C8398|http://identifiers.org/snomedct/254555008	
UBERON:0010152	biolink:AnatomicalEntity	skin mucus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010152		
MONDO:0015942	biolink:Disease	frontometaphyseal dysplasia	Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.	OMIMPS:305620|DOID:0111785|SCTID:62803002|GARD:0000826|ICD9:759.89|MESH:C538064|Orphanet:1826	mondo.json	FMD|frontometaphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0015942	http://identifiers.org/snomedct/62803002|http://identifiers.org/mesh/C538064|https://omim.org/phenotypicSeries/PS305620|Orphanet:1826|DOID:0111785	ordo_disease|prototype_pattern
MONDO:0015941	biolink:Disease	epiphyseal dysplasia-hearing loss-dysmorphism syndrome	Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.	SCTID:766870005|Orphanet:1825|UMLS:CN200532|GARD:0002178	mondo.json	Finucane-Kurtz-Scott syndrome|Finucane Kurtz Scott syndrome|epiphyseal dysplasia hearing loss dysmorphism	http://purl.obolibrary.org/obo/MONDO_0015941	UMLS:CN200532|Orphanet:1825|http://identifiers.org/snomedct/766870005	gard_rare|ordo_malformation_syndrome
MONDO:0015940	biolink:Disease	obsolete rare rheumatologic disease	OBSOLETE. Any of the forms of rheumatologic disorder that have a rare incidence.	UMLS:CN200530|Orphanet:182231	mondo.json	rare rheumatologic disorder|rare rheumatological disease	http://purl.obolibrary.org/obo/MONDO_0015940	Orphanet:182231|UMLS:CN200530	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0015946	biolink:Disease	obsolete rare genetic epidermal disorder		Orphanet:183426|UMLS:CN200542	mondo.json	genetic epidermal disorder	http://purl.obolibrary.org/obo/MONDO_0015946	Orphanet:183426|UMLS:CN200542	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0015945	biolink:Disease	obsolete polymalformative genetic syndrome with increased risk of developing cancer	OBSOLETE. Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases.	Orphanet:183422|UMLS:CN200541	mondo.json	PGSIRC	http://purl.obolibrary.org/obo/MONDO_0015945	Orphanet:183422|UMLS:CN200541	ordo_group_of_disorders
MONDO:0015944	biolink:Disease	axial mesodermal dysplasia spectrum	Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula.	UMLS:C2931613|MESH:C537790|Orphanet:1834|SCTID:765755006|GARD:0000213	mondo.json	blastogenesis defect|Russell-Weaver-Bull syndrome|Russell Weaver Bull syndrome	http://purl.obolibrary.org/obo/MONDO_0015944	http://identifiers.org/snomedct/765755006|UMLS:C2931613|http://identifiers.org/mesh/C537790|Orphanet:1834	ordo_malformation_syndrome|gard_rare
MONDO:0015943	biolink:Disease	eosinophilic granulomatosis with polyangiitis	Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia.	MedDRA:10048594|GARD:0005776|GARD:0006111|DOID:3049|Orphanet:183|MESH:D015267|NCIT:C34481|EFO:0007208|UMLS:C0008728|SCTID:82275008	mondo.json	vasculitis, Churg Strauss|allergic Granulomatoses|angiitis, granulomatous allergic|vasculitis, eosinophilic granulomatous|granulomatous angiitis, allergic|granulomatous allergic Angiitides|Vasculitides, eosinophilic granulomatous|Angiitides, granulomatous allergic|granulomatous Angiitides, allergic|allergic granulomatosis|allergic granulomatous and angiitis|allergic granulomatous angiitis|angiitis, allergic|Angiitides, allergic|granulomatous allergic angiitis|Granulomatoses, allergic|Churg-Strauss vasculitis|EGPA|allergic granulomatosis angiitis|allergic Angiitides, granulomatous|Churg-Strauss syndrome|allergic angiitis, granulomatous|angiitis, allergic granulomatous|syndrome, Churg-Strauss|Churg Strauss syndrome|Angiitides, allergic granulomatous|allergic angiitis and granulomatosis|granulomatosis, allergic|granulomatous vasculitis, eosinophilic|eosinophilic granulomatous vasculitis|granulomatous Vasculitides, eosinophilic|eosinophilic granulomatous Vasculitides|allergic granulomatous Angiitides|vasculitis, Churg-Strauss|allergic angiitis|allergic Angiitides	http://purl.obolibrary.org/obo/MONDO_0015943	http://identifiers.org/mesh/D015267|http://identifiers.org/snomedct/82275008|Orphanet:183|NCIT:C34481|DOID:3049|UMLS:C0008728	ordo_disease
MONDO:0001309	biolink:Disease	oculomotor nerve paralysis	Paralysis of the oculomotor nerve.	NCIT:C27597|Orphanet:98685|UMLS:C0028866|DOID:11550|SCTID:388980004	mondo.json	third cranial nerve paralysis|oculomotor nerve paralysis|III nerve palsy|IIIrd nerve paralysis|cranial nerve palsy of oculomotor nerve|oculomotor palsy|oculomotor nerve cranial nerve palsy	http://purl.obolibrary.org/obo/MONDO_0001309	NCIT:C27597|DOID:11550|UMLS:C0028866|Orphanet:98685|http://identifiers.org/snomedct/388980004	ordo_group_of_disorders|disease_grouping
MONDO:0001308	biolink:Disease	corneal deposit		DOID:11547|SCTID:74460005|ICD10CM:H18.0|UMLS:C0162281|ICD9:371.10	mondo.json	deposits - cornea	http://purl.obolibrary.org/obo/MONDO_0001308	DOID:11547|http://identifiers.org/snomedct/74460005|http://purl.bioontology.org/ontology/ICD10CM/H18.0|UMLS:C0162281	
GO:1990748	biolink:NamedThing	cellular detoxification	Any process carried out at the cellular level that reduces or removes the toxicity of a toxic substance. These may include transport of the toxic substance away from sensitive areas and to compartments or complexes whose purpose is sequestration of the toxic substance.		mondo.json		http://purl.obolibrary.org/obo/GO_1990748		
MONDO:0001307	biolink:Disease	corneal abscess	An abscess of the cornea.	DOID:11543|NCIT:C26969|ICD9:370.55|SCTID:64366002|UMLS:C0155091	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001307	http://identifiers.org/snomedct/64366002|UMLS:C0155091|DOID:11543|NCIT:C26969	
MONDO:0001306	biolink:Disease	obsolete recurrent corneal erosion		UMLS:C0155119|DOID:11541|HP:0000495|ICD9:371.42|SCTID:2055003	mondo.json	recurrent erosion syndrome|recurrent erosion of cornea	http://purl.obolibrary.org/obo/MONDO_0001306	UMLS:C0155119|DOID:11541|http://identifiers.org/snomedct/2055003	
MONDO:0003968	biolink:Disease	asynchronous multifocal osteogenic sarcoma	A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered between 6 and 24 months after the appearance of the initial tumor. Patients with asynchronous tumors have a better prognosis than those with synchronous osteosarcomas.	DOID:6697|UMLS:C1332342|NCIT:C6472	mondo.json	asynchronous multifocal osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0003968	NCIT:C6472|DOID:6697|UMLS:C1332342	
MONDO:0003969	biolink:Disease	amphetamine abuse	Disorders related or resulting from use of amphetamines.	ICD9:305.7|SCTID:84758004|DOID:670|MESH:D019969|ICD9:305.70	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003969	http://identifiers.org/mesh/D019969|http://identifiers.org/snomedct/84758004|DOID:670	
GO:0001654	biolink:NamedThing	eye development	The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight.		mondo.json		http://purl.obolibrary.org/obo/GO_0001654		
HGNC:237	biolink:NamedThing	ADCY6			mondo.json		http://identifiers.org/hgnc/237		
HGNC:236	biolink:NamedThing	ADCY5			mondo.json		http://identifiers.org/hgnc/236		
HGNC:232	biolink:NamedThing	ADCY1			mondo.json		http://identifiers.org/hgnc/232		
CHEBI:27594	biolink:ChemicalSubstance	carbon atom			mondo.json	carbonium|C|carbono|carbon|Carbon|6C|Kohlenstoff|carbon|carbone	http://purl.obolibrary.org/obo/CHEBI_27594		
MFOMD:0000025	biolink:NamedThing	mental disease course	A disease course of a mental disease.		mondo.json		http://purl.obolibrary.org/obo/MFOMD_0000025		
MFOMD:0000024	biolink:NamedThing	pathological mental process			mondo.json		http://purl.obolibrary.org/obo/MFOMD_0000024		
GO:0001659	biolink:NamedThing	temperature homeostasis	A homeostatic process in which an organism modulates its internal body temperature.		mondo.json	thermoregulation	http://purl.obolibrary.org/obo/GO_0001659		
HP:0000929	biolink:PhenotypicFeature	Abnormal skull morphology	An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones.	UMLS:C0235942	mondo.json	Abnormality of the skull|Abnormality of the skull bones	http://purl.obolibrary.org/obo/HP_0000929		
GO:0001666	biolink:NamedThing	response to hypoxia	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.		mondo.json	response to intermittent hypoxia|response to lowered oxygen tension|response to hypoxic stress|response to sustained hypoxia	http://purl.obolibrary.org/obo/GO_0001666		
GO:0001667	biolink:NamedThing	ameboidal-type cell migration	Cell migration that is accomplished by extension and retraction of a pseudopodium.		mondo.json	ameboid cell migration|amoeboidal cell migration|amoeboid cell migration	http://purl.obolibrary.org/obo/GO_0001667		
GO:0098573	biolink:NamedThing	intrinsic component of mitochondrial membrane	The component of the mitochondrial membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane.		mondo.json	intrinsic to mitochondrial membrane	http://purl.obolibrary.org/obo/GO_0098573		
HGNC:245	biolink:NamedThing	ADD3			mondo.json		http://identifiers.org/hgnc/245		
HGNC:243	biolink:NamedThing	ADD1			mondo.json		http://identifiers.org/hgnc/243		
HP:0000925	biolink:PhenotypicFeature	Abnormality of the vertebral column	Any abnormality of the vertebral column.	UMLS:C4020882|UMLS:C4021789	mondo.json	Abnormal spine|Abnormality of the spine|Abnormality of the vertebral column|Abnormality of the backbone|Abnormal vertebral column	http://purl.obolibrary.org/obo/HP_0000925		hposlim_core
HP:0000924	biolink:PhenotypicFeature	Abnormality of the skeletal system	An abnormality of the skeletal system.	UMLS:C4021790	mondo.json	Skeletal abnormalities|Skeletal anomalies|Abnormality of the skeletal system	http://purl.obolibrary.org/obo/HP_0000924		
HP:0000927	biolink:PhenotypicFeature	Abnormality of skeletal maturation	The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation.	UMLS:C4025818	mondo.json	Abnormality of skeletal maturation	http://purl.obolibrary.org/obo/HP_0000927		
HP:0000926	biolink:PhenotypicFeature	Platyspondyly	A flattened vertebral body shape with reduced distance between the vertebral endplates.	UMLS:C1844704	mondo.json	Flattened vertebral bodies|Flat vertebral bodies|Flattened vertebrae	http://purl.obolibrary.org/obo/HP_0000926		hposlim_core
MFOMD:0000013	biolink:NamedThing	depressed mood episode	A depressed mood episode is a pathological mental process characterised by persistent feelings of sadness, anxiety, guilt, anger, isolation or hopelessness and other negative valence emotions, disturbances in sleep and appetite, fatigue, loss of interest in usually enjoyable activities and morbid or suicidal ideation.		mondo.json		http://purl.obolibrary.org/obo/MFOMD_0000013		
HGNC:218	biolink:NamedThing	ADAMTS2			mondo.json		http://identifiers.org/hgnc/218		
HGNC:216	biolink:NamedThing	ADAM9			mondo.json		http://identifiers.org/hgnc/216		
GO:0098542	biolink:NamedThing	defense response to other organism	Reactions triggered in response to the presence of another organism that act to protect the cell or organism from damage caused by that organism.		mondo.json	defence response to pathogen, incompatible interaction|defence response incompatible interaction|resistance response to pathogen|defense response, incompatible interaction	http://purl.obolibrary.org/obo/GO_0098542		
CHEBI:27573	biolink:ChemicalSubstance	silicon atom			mondo.json	Si|silicio|silicon|silicium|Silicon|silicon|Silizium|14Si	http://purl.obolibrary.org/obo/CHEBI_27573		
HGNC:225	biolink:NamedThing	ADAR			mondo.json		http://identifiers.org/hgnc/225		
RO:0019001	biolink:NamedThing	positively regulates characteristic	A relationship that holds between a process and a characteristic in which process (P) positively regulates characteristic (C) iff: P results in an increase in the intensity or magnitude of C.		mondo.json		http://purl.obolibrary.org/obo/RO_0019001		
RO:0019000	biolink:NamedThing	regulates characteristic	A relationship that holds between a process and a characteristic in which process (P) regulates characteristic (C) iff: P results in the existence of C OR affects the intensity or magnitude of C.		mondo.json		http://purl.obolibrary.org/obo/RO_0019000		
RO:0019002	biolink:NamedThing	negatively regulates characteristic	A relationship that holds between a process and a characteristic in which process (P) negatively regulates characteristic (C) iff: P results in a decrease in the intensity or magnitude of C.		mondo.json		http://purl.obolibrary.org/obo/RO_0019002		
GO:0001649	biolink:NamedThing	osteoblast differentiation	The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone.		mondo.json	osteoblast cell differentiation	http://purl.obolibrary.org/obo/GO_0001649		
MONDO:0003900	biolink:Disease	connective tissue disorder	A disease involving the connective tissue.	MESH:D003240|SCTID:105969002|NCIT:C26729|DOID:65|UMLS:C0009782	mondo.json	connective tissue disease or disorder|tissue disease, connective|primary disorder of connective tissue|connective tissue diseases|disease of connective tissue|connective tissue disorders|connective tissue disorder|disease, connective tissue|disorder of connective tissue|connective tissue disease|disease or disorder of connective tissue	http://purl.obolibrary.org/obo/MONDO_0003900	http://identifiers.org/snomedct/105969002|UMLS:C0009782|NCIT:C26729|http://identifiers.org/mesh/D003240|DOID:65	
MONDO:0003901	biolink:Disease	cerebellar hemangioblastoma	A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26).	NCIT:C5146|DOID:6500|UMLS:C1332900	mondo.json	angioblastoma of cerebellum|cerebellar angioblastoma|cerebellum hemangioblastoma|hemangioblastoma of the cerebellum|angioblastoma of the cerebellum|cerebellar hemangioblastoma|hemangioblastoma of cerebellum|cerebellar capillary hemangioblastoma	http://purl.obolibrary.org/obo/MONDO_0003901	DOID:6500|UMLS:C1332900|NCIT:C5146	
HP:0000953	biolink:PhenotypicFeature	Hyperpigmentation of the skin	A darkening of the skin related to an increase in melanin production and deposition.	MSH:D017495|UMLS:C0162834|SNOMEDCT_US:4830009|SNOMEDCT_US:49765009	mondo.json	Increased skin pigmentation|Melanodermia|Cutaneous hyperpigmentation|Patchy darkened skin|Hyperpigmented lesion|Melanoderma|Skin hyperpigmentation	http://purl.obolibrary.org/obo/HP_0000953		
UBERON:0009117	biolink:AnatomicalEntity	indifferent gonad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009117		
HP:0000952	biolink:PhenotypicFeature	Jaundice	Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.	MSH:D007565|SNOMEDCT_US:18165001|UMLS:C0022346	mondo.json	Yellowing of the skin|Yellow skin|Icterus|Jaundice	http://purl.obolibrary.org/obo/HP_0000952		
HP:0000951	biolink:PhenotypicFeature	Abnormality of the skin	An abnormality of the skin.	SNOMEDCT_US:199879009|UMLS:C0037268|SNOMEDCT_US:95320005|MSH:D012868|UMLS:C0037274|MSH:D012871	mondo.json	Dermatopathy|Abnormality of the skin|Dermopathy|Skin abnormality	http://purl.obolibrary.org/obo/HP_0000951		hposlim_core
UBERON:0009114	biolink:AnatomicalEntity	cervical thymus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009114		
UBERON:0009115	biolink:AnatomicalEntity	thoracic thymus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009115		
MONDO:0003910	biolink:Disease	mixed cell uveal melanoma	A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells.	NCIT:C35781|UMLS:C1334782|DOID:6522|EFO:1000380	mondo.json	mixed cell uveal melanoma	http://purl.obolibrary.org/obo/MONDO_0003910	NCIT:C35781|UMLS:C1334782|DOID:6522	
MONDO:0003911	biolink:Disease	ciliary body mixed cell melanoma	A mixed cell uveal melanoma that involves the ciliary body.	DOID:6523|UMLS:C1333051|NCIT:C35783	mondo.json	ciliary body mixed cell melanoma|mixed cell uveal melanoma of ciliary body|ciliary body mixed cell uveal melanoma	http://purl.obolibrary.org/obo/MONDO_0003911	DOID:6523|NCIT:C35783|UMLS:C1333051	
MONDO:0003912	biolink:Disease	malignant ciliary body melanoma	A rare uveal melanoma that arises from the ciliary body. Patients may present with blurred vision, visual field loss, floaters, and ocular pain. The prognosis is usually poor.	DOID:6524|ICD9:190.8|NCIT:C4558|SCTID:255015006|UMLS:C0346379	mondo.json	malignant melanoma of ciliary body|ciliary body melanoma (disease)|melanoma (disease) of ciliary body|malignant melanoma of the ciliary body|melanoma of ciliary body|ciliary body malignant melanoma|melanoma of the ciliary body|ciliary body melanoma	http://purl.obolibrary.org/obo/MONDO_0003912	DOID:6524|http://identifiers.org/snomedct/255015006|NCIT:C4558|UMLS:C0346379	
HP:0000964	biolink:PhenotypicFeature	Eczema	Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.	MSH:D004485|UMLS:C0013595|SNOMEDCT_US:281104002|SNOMEDCT_US:43116000	mondo.json	Eczema	http://purl.obolibrary.org/obo/HP_0000964		
HP:0000967	biolink:PhenotypicFeature	Petechiae	Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.	MSH:D011693|SNOMEDCT_US:50091001|SNOMEDCT_US:271813007|MEDDRA:10034754|UMLS:C0031256	mondo.json		http://purl.obolibrary.org/obo/HP_0000967		hposlim_core
HP:0000966	biolink:PhenotypicFeature	Hypohidrosis	Abnormally diminished capacity to sweat.	MSH:D007007|SNOMEDCT_US:45004005|MEDDRA:10021013|UMLS:C0020620	mondo.json	Sweating, decreased|Inadequate sweating|Decreased ability to sweat|Oligohidrosis|Decreased sweating	http://purl.obolibrary.org/obo/HP_0000966		hposlim_core
HP:0000969	biolink:PhenotypicFeature	Edema	An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.	SNOMEDCT_US:423666004|MSH:D004487|SNOMEDCT_US:20741006|SNOMEDCT_US:79654002|UMLS:C0013604|SNOMEDCT_US:267038008	mondo.json	Dropsy|Water retention|Oedema|Hydrops|Fluid retention	http://purl.obolibrary.org/obo/HP_0000969		
HGNC:7414	biolink:NamedThing	MT-ATP6			mondo.json		http://identifiers.org/hgnc/7414		
HGNC:7419	biolink:NamedThing	MT-CO1			mondo.json		http://identifiers.org/hgnc/7419		
HP:0000962	biolink:PhenotypicFeature	Hyperkeratosis	Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.	SNOMEDCT_US:396228006|SNOMEDCT_US:26996000|UMLS:C0870082|MEDDRA:10020649|SNOMEDCT_US:399955009	mondo.json		http://purl.obolibrary.org/obo/HP_0000962		hposlim_core
MONDO:0003906	biolink:Disease	ovarian yolk sac tumor, hepatoid pattern	A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into hepatic tissue.	DOID:6512|NCIT:C39989|UMLS:C1518748	mondo.json	hepatoid pattern ovarian yolk sac tumor|ovarian yolk Sac tumor, hepatoid pattern	http://purl.obolibrary.org/obo/MONDO_0003906	DOID:6512|UMLS:C1518748|NCIT:C39989	
MONDO:0003907	biolink:Disease	ovarian yolk sac tumor, polyvesicular vitelline pattern	A yolk sac tumor that arises from the ovary and is characterized by the presence of multiple dilated spaces lined by cells that resemble mesothelial cells. The dilated spaces coexist with columnar epithelial tissues.	DOID:6514|UMLS:C1518749|NCIT:C39987	mondo.json	ovarian yolk sac tumor, polyvesicular vitelline pattern|polyvesicular vitelline pattern ovarian yolk sac tumor	http://purl.obolibrary.org/obo/MONDO_0003907	DOID:6514|UMLS:C1518749|NCIT:C39987	
MONDO:0003908	biolink:Disease	clivus meningioma	A meningioma that affects the clivus.	UMLS:C1333073|DOID:6517|NCIT:C5289	mondo.json	meningioma of the clivus|meningioma of clivus|clivus of occipital bone meningioma (disease)|meningioma (disease) of clivus of occipital bone	http://purl.obolibrary.org/obo/MONDO_0003908	UMLS:C1333073|DOID:6517|NCIT:C5289	
MONDO:0003909	biolink:Disease	Bartholin gland adenomyoma	A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of a fibromuscular stroma and glands lined by mucin-secreting epithelial cells, arranged in a lobular architecture.	DOID:6518|NCIT:C40300|UMLS:C1511049	mondo.json	adenomyoma of major vestibular gland|Bartholin gland adenomyoma|major vestibular gland adenomyoma	http://purl.obolibrary.org/obo/MONDO_0003909	NCIT:C40300|DOID:6518|UMLS:C1511049	
MONDO:0003902	biolink:Disease	brain stem hemangioblastoma	A hemangioblastoma that involves the brainstem.	UMLS:C1332611|DOID:6501|NCIT:C5147	mondo.json	angioblastoma of brainstem|brainstem angioblastoma|hemangioblastoma of brainstem|brain stem hemangioblastoma|angioblastoma of brain stem|brain stem capillary hemangioblastoma|hemangioblastoma of brain stem|brainstem hemangioblastoma|hemangioblastoma of the brain stem|angioblastoma of the brain stem|brain stem angioblastoma|hemangioblastoma of the brainstem|angioblastoma of the brainstem	http://purl.obolibrary.org/obo/MONDO_0003902	DOID:6501|UMLS:C1332611|NCIT:C5147	
MONDO:0003903	biolink:Disease	benign vaginal mixed tumor	A non-metastasizing, well circumscribed neoplasm that arises from the vagina and is characterized by the presence of a predominant benign mesenchymal component and benign glandular or squamous epithelial cells.	DOID:6505|UMLS:C1511107|NCIT:C40280	mondo.json	vaginal spindle cell epithelioma|benign vaginal mixed tumor	http://purl.obolibrary.org/obo/MONDO_0003903	NCIT:C40280|DOID:6505|UMLS:C1511107	
MONDO:0003904	biolink:Disease	lung occult squamous cell carcinoma	A squamous cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.	NCIT:C6686|UMLS:C1335100|DOID:6510	mondo.json	occult squamous cell lung carcinoma|occult squamous cell carcinoma of the lung|occult squamous cell carcinoma of lung	http://purl.obolibrary.org/obo/MONDO_0003904	DOID:6510|NCIT:C6686|UMLS:C1335100	
MONDO:0003905	biolink:Disease	ovarian yolk sac tumor, glandular pattern	A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into endodermal type glandular structures.	DOID:6511|NCIT:C39988|UMLS:C1518747	mondo.json	ovarian yolk Sac tumor, glandular pattern|glandular pattern ovarian yolk sac tumor	http://purl.obolibrary.org/obo/MONDO_0003905	DOID:6511|UMLS:C1518747|NCIT:C39988	
HP:0000939	biolink:PhenotypicFeature	Osteoporosis	Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).	MSH:D010024|SNOMEDCT_US:64859006|UMLS:C0029456	mondo.json		http://purl.obolibrary.org/obo/HP_0000939		
GO:0098588	biolink:NamedThing	bounding membrane of organelle	The lipid bilayer that forms the outer-most layer of an organelle.		mondo.json		http://purl.obolibrary.org/obo/GO_0098588		
HP:0000932	biolink:PhenotypicFeature	Abnormal posterior cranial fossa morphology	An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum.	UMLS:C3280768	mondo.json	Abnormality of the posterior cranial fossa|Posterior fossa anomaly|Abnormality of the posterior fossa	http://purl.obolibrary.org/obo/HP_0000932		
MFOMD:0000001	biolink:NamedThing	mental disease	A disease which is a disposition to undergo pathological mental processes.		mondo.json		http://purl.obolibrary.org/obo/MFOMD_0000001		
HGNC:7427	biolink:NamedThing	MT-CYB			mondo.json		http://identifiers.org/hgnc/7427		
MFOMD:0000004	biolink:NamedThing	mental disorder	Clinically significant behavioural and/or cognitive pathology.	SNOMEDCT_2010_1_31:154972009|SNOMEDCT_2010_1_31:74732009|MSH:D001523|SNOMEDCT_2010_1_31:192639003|SNOMEDCT_2010_1_31:192637001|SNOMEDCT_2010_1_31:154980002|SNOMEDCT_2010_1_31:154843007|NCI:C2893|SNOMEDCT_2010_1_31:154971002|ICD9CM:290-319.99|UMLS_CUI:C0004936	mondo.json		http://purl.obolibrary.org/obo/MFOMD_0000004		
HGNC:7422	biolink:NamedThing	MT-CO3			mondo.json		http://identifiers.org/hgnc/7422		
GO:0098589	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0098589		
HGNC:7421	biolink:NamedThing	MT-CO2			mondo.json		http://identifiers.org/hgnc/7421		
GO:0098590	biolink:NamedThing	plasma membrane region	A membrane that is a (regional) part of the plasma membrane.		mondo.json	region of plasma membrane	http://purl.obolibrary.org/obo/GO_0098590		
HP:0000944	biolink:PhenotypicFeature	Abnormality of the metaphysis	An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.	UMLS:C4025814	mondo.json	Abnormality of the wide portion of a long bone	http://purl.obolibrary.org/obo/HP_0000944		
HGNC:7436	biolink:NamedThing	MTHFR			mondo.json		http://identifiers.org/hgnc/7436		
HP:0000940	biolink:PhenotypicFeature	Abnormal diaphysis morphology	An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.	UMLS:C4021787	mondo.json	Abnormality of the diaphyses|Abnormality involving the diaphyses of the limbs|Anomaly of the limb diaphyses|Anomaly of the limb diaphyses morphology|Abnormal shape of shaft of long bone|Abnormality of shaft of long bone of the limbs	http://purl.obolibrary.org/obo/HP_0000940		
HGNC:7432	biolink:NamedThing	MTHFD1			mondo.json		http://identifiers.org/hgnc/7432		
CL:0000240	biolink:Cell	stratified squamous epithelial cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000240		
CL:0000242	biolink:Cell	Merkel cell	A modified epidermal cell located in the stratum basale. They are found mostly in areas where sensory perception is acute. Merkel cells are closely associated with an expanded terminal bulb of an afferent myelinated nerve fiber.	FMA:70548	mondo.json	Merkel's cell	http://purl.obolibrary.org/obo/CL_0000242		
CL:0000243	biolink:Cell	obsolete glial cell (sensu Vertebrata)	A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons. Neuroglia have high-affinity transmitter uptake systems, voltage-dependent and transmitter-gated ion channels, and can release transmitters, but their role in signaling (as in many other functions) is unclear.		mondo.json		http://purl.obolibrary.org/obo/CL_0000243		
CL:0000244	biolink:Cell	transitional epithelial cell	A cell characteristically found lining hollow organs that are subject to great mechanical change due to contraction and distention; originally thought to represent a transition between stratified squamous and columnar epithelium.	FMA:66778	mondo.json		http://purl.obolibrary.org/obo/CL_0000244		
GO:1904729	biolink:NamedThing	regulation of intestinal lipid absorption	Any process that modulates the frequency, rate or extent of intestinal lipid absorption.		mondo.json		http://purl.obolibrary.org/obo/GO_1904729		
CL:0000255	biolink:Cell	eukaryotic cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000255		
ENVO:01000216	biolink:NamedThing	montane shrubland biome	A montane shrubland biome is a shrubland biome which occurs in regions elevated above sea level and which has community structure determined by elevation-dependent environmental conditions.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000216		
CL:0000226	biolink:Cell	single nucleate cell	A cell with a single nucleus.		mondo.json		http://purl.obolibrary.org/obo/CL_0000226		
CL:0000228	biolink:Cell	multinucleate cell	A cell with more than one nucleus.	WBbt:0008074|AEO:0000203	mondo.json	syncitium|syncytium|syncytial cell	http://purl.obolibrary.org/obo/CL_0000228		
ENVO:01000219	biolink:NamedThing	anthropogenic terrestrial biome	An anthropogenic terrestrial biome is a terrestrial biome which has community structures determined by human activity.		mondo.json	human biome|anthrome	http://purl.obolibrary.org/obo/ENVO_01000219		
GO:1904731	biolink:NamedThing	positive regulation of intestinal lipid absorption	Any process that activates or increases the frequency, rate or extent of intestinal lipid absorption.		mondo.json	upregulation of intestinal lipid absorption|up-regulation of intestinal lipid absorption|up regulation of intestinal lipid absorption|activation of intestinal lipid absorption	http://purl.obolibrary.org/obo/GO_1904731		
GO:1904730	biolink:NamedThing	negative regulation of intestinal lipid absorption	Any process that stops, prevents or reduces the frequency, rate or extent of intestinal lipid absorption.		mondo.json	down-regulation of intestinal lipid absorption|down regulation of intestinal lipid absorption|inhibition of intestinal lipid absorption|downregulation of intestinal lipid absorption	http://purl.obolibrary.org/obo/GO_1904730		
OBO:ECTO_7000045	biolink:NamedThing	exposure to stellar radiation	A exposure event involving the interaction of an exposure receptor to stellar radiation.		mondo.json	stellar radiation exposure	http://purl.obolibrary.org/obo/ECTO_7000045		
MONDO:0025397	biolink:Disease	canine distemper	A viral disease caused by canine distemper virus that affects a wide variety of animal families, including domestic and wild species of dogs, coyotes, foxes, pandas, wolves, ferrets, skunks, raccoons, and large cats, as well as pinnipeds, some primates, and a variety of other species.	MESH:D004216	mondo.json	Distempers|canine distemper|canine Distempers|distemper, canine|Distempers, canine	http://purl.obolibrary.org/obo/MONDO_0025397	http://identifiers.org/mesh/D004216	
HGNC:291	biolink:NamedThing	ADSL			mondo.json		http://identifiers.org/hgnc/291		
CL:0000221	biolink:Cell	ectodermal cell	A cell of the outer of the three germ layers of the embryo.	FMA:72549	mondo.json	ectoderm cell	http://purl.obolibrary.org/obo/CL_0000221		
CL:0000222	biolink:Cell	mesodermal cell	A cell of the middle germ layer of the embryo.	FMA:72554	mondo.json	mesoblast|mesoderm cell	http://purl.obolibrary.org/obo/CL_0000222		
CL:0000223	biolink:Cell	endodermal cell	A cell of the inner of the three germ layers of the embryo.	FMA:72555	mondo.json	endoderm cell	http://purl.obolibrary.org/obo/CL_0000223		
CL:0000225	biolink:Cell	anucleate cell	A cell that lacks a nucleus.	FMA:68647	mondo.json	non-nucleated cell	http://purl.obolibrary.org/obo/CL_0000225		
MONDO:0025389	biolink:Disease	brucellosis, bovine	A disease of cattle caused by bacteria of the genus brucella leading to abortion in late pregnancy. brucella abortus is the primary infective agent.	MESH:D002007	mondo.json	disease, bang|Bangs disease|Brucelloses, bovine|disease, bang's|bang disease|bovine Brucelloses|bang's disease|bovine brucellosis	http://purl.obolibrary.org/obo/MONDO_0025389	http://identifiers.org/mesh/D002007	
ENVO:01000203	biolink:NamedThing	environmental condition	An environmental condition is a range of a determinate quality or combination of qualities that are present in an environmental system.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000203		
GO:1904748	biolink:NamedThing	regulation of apoptotic process involved in development	Any process that modulates the frequency, rate or extent of apoptotic process involved in development.		mondo.json	regulation of commitment to apoptosis involved in development of an anatomical structure|regulation of apoptosis involved in development of an anatomical structure|regulation of apoptotic cell death involved in anatomical structure development|regulation of activation of apoptosis involved in development of an anatomical structure|regulation of apoptosis involved in anatomical structure development|regulation of commitment to apoptosis involved in anatomical structure development|regulation of programmed cell death by apoptosis involved in development of an anatomical structure|regulation of apoptotic programmed cell death involved in development of an anatomical structure|regulation of type I programmed cell death involved in development of an anatomical structure|regulation of apoptotic program involved in development of an anatomical structure|regulation of induction of apoptosis by p53 involved in development of an anatomical structure|regulation of activation of apoptosis involved in anatomical structure development|regulation of apoptotic process involved in development of an anatomical structure|regulation of induction of apoptosis involved in development of an anatomical structure|regulation of apoptosis activator activity involved in development of an anatomical structure|regulation of apoptotic programmed cell death involved in anatomical structure development|regulation of programmed cell death by apoptosis involved in anatomical structure development|regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|regulation of induction of apoptosis by p53 involved in anatomical structure development|regulation of apoptotic process involved in anatomical structure development|regulation of type I programmed cell death involved in anatomical structure development|regulation of apoptotic program involved in anatomical structure development|regulation of apoptosis activator activity involved in anatomical structure development|regulation of apoptosis signaling involved in development of an anatomical structure|regulation of induction of apoptosis involved in anatomical structure development|regulation of apoptotic cell death involved in development of an anatomical structure|regulation of signaling (initiator) caspase activity involved in anatomical structure development|regulation of apoptosis signaling involved in anatomical structure development	http://purl.obolibrary.org/obo/GO_1904748		
GO:1904747	biolink:NamedThing	positive regulation of apoptotic process involved in development	Any process that activates or increases the frequency, rate or extent of apoptotic process involved in development.		mondo.json	upregulation of type I programmed cell death involved in development of an anatomical structure|up regulation of apoptotic process involved in development of an anatomical structure|positive regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|upregulation of apoptotic process involved in development|up regulation of activation of apoptosis involved in anatomical structure development|positive regulation of type I programmed cell death involved in anatomical structure development|up regulation of induction of apoptosis by p53 involved in development of an anatomical structure|up regulation of apoptotic program involved in development of an anatomical structure|up regulation of apoptotic cell death involved in development of an anatomical structure|positive regulation of apoptotic programmed cell death involved in anatomical structure development|upregulation of induction of apoptosis involved in development of an anatomical structure|positive regulation of induction of apoptosis involved in anatomical structure development|activation of type I programmed cell death involved in development of an anatomical structure|positive regulation of apoptosis activator activity involved in anatomical structure development|upregulation of apoptosis activator activity involved in development of an anatomical structure|positive regulation of apoptotic process involved in anatomical structure development|positive regulation of induction of apoptosis by p53 involved in anatomical structure development|up-regulation of apoptotic cell death involved in anatomical structure development|positive regulation of apoptotic program involved in anatomical structure development|up regulation of signaling (initiator) caspase activity involved in anatomical structure development|up-regulation of apoptotic programmed cell death involved in development of an anatomical structure|up-regulation of apoptosis involved in anatomical structure development|up-regulation of commitment to apoptosis involved in anatomical structure development|activation of apoptosis activator activity involved in development of an anatomical structure|activation of induction of apoptosis involved in development of an anatomical structure|activation of apoptosis signaling involved in anatomical structure development|positive regulation of apoptosis signaling involved in development of an anatomical structure|up-regulation of activation of apoptosis involved in anatomical structure development|up-regulation of apoptotic process involved in development of an anatomical structure|activation of apoptotic programmed cell death involved in development of an anatomical structure|up regulation of apoptotic programmed cell death involved in anatomical structure development|activation of apoptotic cell death involved in development of an anatomical structure|upregulation of apoptosis signaling involved in anatomical structure development|up-regulation of apoptotic program involved in development of an anatomical structure|up-regulation of induction of apoptosis by p53 involved in development of an anatomical structure|positive regulation of apoptotic cell death involved in development of an anatomical structure|upregulation of programmed cell death by apoptosis involved in anatomical structure development|activation of commitment to apoptosis involved in development of an anatomical structure|upregulation of signaling (initiator) caspase activity involved in development of an anatomical structure|up regulation of induction of apoptosis by p53 involved in anatomical structure development|up regulation of apoptotic program involved in anatomical structure development|activation of apoptotic process involved in development of an anatomical structure|positive regulation of signaling (initiator) caspase activity involved in anatomical structure development|activation of apoptosis involved in development of an anatomical structure|up regulation of apoptotic process involved in anatomical structure development|upregulation of type I programmed cell death involved in anatomical structure development|activation of activation of apoptosis involved in development of an anatomical structure|up regulation of apoptosis signaling involved in development of an anatomical structure|activation of type I programmed cell death involved in anatomical structure development|upregulation of commitment to apoptosis involved in development of an anatomical structure|upregulation of apoptosis involved in development of an anatomical structure|up regulation of apoptotic cell death involved in anatomical structure development|activation of signaling (initiator) caspase activity involved in development of an anatomical structure|upregulation of induction of apoptosis involved in anatomical structure development|upregulation of apoptosis activator activity involved in anatomical structure development|up-regulation of apoptotic programmed cell death involved in anatomical structure development|activation of induction of apoptosis involved in anatomical structure development|activation of apoptosis activator activity involved in anatomical structure development|upregulation of activation of apoptosis involved in development of an anatomical structure|up-regulation of programmed cell death by apoptosis involved in development of an anatomical structure|up-regulation of type I programmed cell death involved in development of an anatomical structure|up-regulation of apoptotic process involved in anatomical structure development|up-regulation of apoptotic program involved in anatomical structure development|activation of apoptotic cell death involved in anatomical structure development|upregulation of apoptotic cell death involved in development of an anatomical structure|up-regulation of apoptotic process involved in development|activation of apoptotic programmed cell death involved in anatomical structure development|positive regulation of apoptosis signaling involved in anatomical structure development|up-regulation of induction of apoptosis by p53 involved in anatomical structure development|positive regulation of apoptotic cell death involved in anatomical structure development|activation of apoptotic process involved in anatomical structure development|upregulation of signaling (initiator) caspase activity involved in anatomical structure development|up-regulation of induction of apoptosis involved in development of an anatomical structure|activation of commitment to apoptosis involved in anatomical structure development|activation of apoptosis involved in anatomical structure development|up-regulation of apoptosis signaling involved in development of an anatomical structure|up-regulation of apoptosis activator activity involved in development of an anatomical structure|positive regulation of commitment to apoptosis involved in development of an anatomical structure|upregulation of apoptotic programmed cell death involved in development of an anatomical structure|activation of signaling (initiator) caspase activity involved in anatomical structure development|activation of activation of apoptosis involved in anatomical structure development|up regulation of apoptosis signaling involved in anatomical structure development|upregulation of commitment to apoptosis involved in anatomical structure development|up regulation of programmed cell death by apoptosis involved in development of an anatomical structure|activation of induction of apoptosis by p53 involved in development of an anatomical structure|positive regulation of apoptosis involved in development of an anatomical structure|upregulation of apoptosis involved in anatomical structure development|activation of apoptotic program involved in development of an anatomical structure|upregulation of apoptotic program involved in development of an anatomical structure|upregulation of induction of apoptosis by p53 involved in development of an anatomical structure|positive regulation of activation of apoptosis involved in development of an anatomical structure|upregulation of activation of apoptosis involved in anatomical structure development|up regulation of type I programmed cell death involved in development of an anatomical structure|up-regulation of programmed cell death by apoptosis involved in anatomical structure development|upregulation of apoptotic process involved in development of an anatomical structure|up regulation of apoptotic process involved in development|up regulation of commitment to apoptosis involved in development of an anatomical structure|up-regulation of type I programmed cell death involved in anatomical structure development|up regulation of apoptosis activator activity involved in development of an anatomical structure|up regulation of induction of apoptosis involved in development of an anatomical structure|up-regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|up regulation of apoptosis involved in development of an anatomical structure|upregulation of apoptotic cell death involved in anatomical structure development|activation of programmed cell death by apoptosis involved in development of an anatomical structure|positive regulation of programmed cell death by apoptosis involved in development of an anatomical structure|up-regulation of apoptosis activator activity involved in anatomical structure development|up regulation of activation of apoptosis involved in development of an anatomical structure|positive regulation of type I programmed cell death involved in development of an anatomical structure|up-regulation of apoptosis signaling involved in anatomical structure development|activation of apoptotic process involved in development|up-regulation of induction of apoptosis involved in anatomical structure development|up regulation of programmed cell death by apoptosis involved in anatomical structure development|positive regulation of apoptotic programmed cell death involved in development of an anatomical structure|activation of apoptotic program involved in anatomical structure development|positive regulation of commitment to apoptosis involved in anatomical structure development|upregulation of apoptotic programmed cell death involved in anatomical structure development|positive regulation of apoptosis activator activity involved in development of an anatomical structure|positive regulation of apoptosis involved in anatomical structure development|activation of induction of apoptosis by p53 involved in anatomical structure development|positive regulation of induction of apoptosis involved in development of an anatomical structure|upregulation of apoptotic process involved in anatomical structure development|up regulation of type I programmed cell death involved in anatomical structure development|positive regulation of apoptotic program involved in development of an anatomical structure|positive regulation of induction of apoptosis by p53 involved in development of an anatomical structure|up-regulation of commitment to apoptosis involved in development of an anatomical structure|upregulation of induction of apoptosis by p53 involved in anatomical structure development|up-regulation of apoptotic cell death involved in development of an anatomical structure|up regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|up-regulation of apoptosis involved in development of an anatomical structure|upregulation of apoptotic program involved in anatomical structure development|activation of apoptosis signaling involved in development of an anatomical structure|positive regulation of activation of apoptosis involved in anatomical structure development|positive regulation of apoptotic process involved in development of an anatomical structure|up regulation of apoptosis activator activity involved in anatomical structure development|upregulation of apoptosis signaling involved in development of an anatomical structure|upregulation of programmed cell death by apoptosis involved in development of an anatomical structure|up-regulation of activation of apoptosis involved in development of an anatomical structure|up regulation of apoptotic programmed cell death involved in development of an anatomical structure|activation of programmed cell death by apoptosis involved in anatomical structure development|up regulation of commitment to apoptosis involved in anatomical structure development|positive regulation of programmed cell death by apoptosis involved in anatomical structure development|up regulation of apoptosis involved in anatomical structure development|up regulation of induction of apoptosis involved in anatomical structure development|up-regulation of signaling (initiator) caspase activity involved in anatomical structure development	http://purl.obolibrary.org/obo/GO_1904747		
MONDO:0025381	biolink:Disease	avian leukosis	A group of transmissible viral diseases of chickens and turkeys. Liver tumors are found in most forms, but tumors can be found elsewhere.	UMLS:C0004421|MESH:D001353	mondo.json	leukosis, Avian|Avian Leukoses|leukoses, Avian|lymphoid leukosis	http://purl.obolibrary.org/obo/MONDO_0025381	http://identifiers.org/mesh/D001353|UMLS:C0004421	
OBO:ECTO_7000058	biolink:NamedThing	exposure to gaseous environmental material	A exposure event involving the interaction of an exposure receptor to gaseous environmental material.		mondo.json	gaseous environmental material exposure	http://purl.obolibrary.org/obo/ECTO_7000058		
CL:0000237	biolink:Cell	keratinizing barrier epithelial cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000237		
GO:1904746	biolink:NamedThing	negative regulation of apoptotic process involved in development	Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in development.		mondo.json	down-regulation of type I programmed cell death involved in development of an anatomical structure|down-regulation of apoptotic process involved in development|down regulation of apoptosis signaling involved in anatomical structure development|inhibition of signaling (initiator) caspase activity involved in development of an anatomical structure|negative regulation of type I programmed cell death involved in development of an anatomical structure|inhibition of type I programmed cell death involved in anatomical structure development|negative regulation of induction of apoptosis involved in development of an anatomical structure|inhibition of induction of apoptosis involved in anatomical structure development|inhibition of apoptosis activator activity involved in anatomical structure development|down-regulation of apoptosis activator activity involved in development of an anatomical structure|negative regulation of apoptosis activator activity involved in development of an anatomical structure|down-regulation of induction of apoptosis involved in development of an anatomical structure|inhibition of apoptotic program involved in anatomical structure development|down regulation of commitment to apoptosis involved in development of an anatomical structure|downregulation of commitment to apoptosis involved in anatomical structure development|down regulation of programmed cell death by apoptosis involved in development of an anatomical structure|down regulation of apoptosis involved in development of an anatomical structure|downregulation of apoptotic cell death involved in anatomical structure development|downregulation of apoptotic programmed cell death involved in development of an anatomical structure|downregulation of apoptosis involved in anatomical structure development|inhibition of induction of apoptosis by p53 involved in anatomical structure development|inhibition of apoptotic cell death involved in anatomical structure development|down regulation of activation of apoptosis involved in development of an anatomical structure|negative regulation of programmed cell death by apoptosis involved in anatomical structure development|downregulation of apoptotic process involved in development of an anatomical structure|down-regulation of programmed cell death by apoptosis involved in anatomical structure development|downregulation of apoptotic program involved in development of an anatomical structure|down-regulation of apoptosis signaling involved in anatomical structure development|downregulation of induction of apoptosis by p53 involved in development of an anatomical structure|downregulation of activation of apoptosis involved in anatomical structure development|inhibition of apoptosis signaling involved in development of an anatomical structure|down regulation of type I programmed cell death involved in development of an anatomical structure|down regulation of apoptotic process involved in development|negative regulation of apoptosis signaling involved in anatomical structure development|negative regulation of type I programmed cell death involved in anatomical structure development|inhibition of signaling (initiator) caspase activity involved in anatomical structure development|down-regulation of type I programmed cell death involved in anatomical structure development|negative regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|down-regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|down regulation of apoptosis activator activity involved in development of an anatomical structure|down regulation of induction of apoptosis involved in development of an anatomical structure|negative regulation of apoptosis activator activity involved in anatomical structure development|down-regulation of apoptosis activator activity involved in anatomical structure development|negative regulation of apoptosis involved in development of an anatomical structure|down-regulation of commitment to apoptosis involved in development of an anatomical structure|negative regulation of induction of apoptosis involved in anatomical structure development|down-regulation of apoptosis involved in development of an anatomical structure|negative regulation of commitment to apoptosis involved in development of an anatomical structure|down-regulation of induction of apoptosis involved in anatomical structure development|down regulation of commitment to apoptosis involved in anatomical structure development|down regulation of programmed cell death by apoptosis involved in anatomical structure development|inhibition of programmed cell death by apoptosis involved in development of an anatomical structure|down regulation of apoptotic programmed cell death involved in development of an anatomical structure|downregulation of programmed cell death by apoptosis involved in development of an anatomical structure|down-regulation of activation of apoptosis involved in development of an anatomical structure|down regulation of apoptosis involved in anatomical structure development|negative regulation of activation of apoptosis involved in development of an anatomical structure|downregulation of apoptotic programmed cell death involved in anatomical structure development|downregulation of induction of apoptosis by p53 involved in anatomical structure development|down regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|down regulation of activation of apoptosis involved in anatomical structure development|down regulation of type I programmed cell death involved in anatomical structure development|downregulation of apoptotic process involved in anatomical structure development|down regulation of apoptotic program involved in development of an anatomical structure|down regulation of apoptotic process involved in development of an anatomical structure|negative regulation of apoptotic cell death involved in development of an anatomical structure|inhibition of apoptotic process involved in development|downregulation of apoptotic process involved in development|down regulation of induction of apoptosis by p53 involved in development of an anatomical structure|inhibition of apoptosis signaling involved in anatomical structure development|downregulation of type I programmed cell death involved in development of an anatomical structure|downregulation of apoptotic program involved in anatomical structure development|down-regulation of apoptotic cell death involved in development of an anatomical structure|down regulation of apoptosis activator activity involved in anatomical structure development|downregulation of apoptosis signaling involved in development of an anatomical structure|inhibition of apoptotic programmed cell death involved in development of an anatomical structure|down regulation of induction of apoptosis involved in anatomical structure development|negative regulation of signaling (initiator) caspase activity involved in anatomical structure development|down-regulation of signaling (initiator) caspase activity involved in anatomical structure development|downregulation of apoptosis activator activity involved in development of an anatomical structure|downregulation of induction of apoptosis involved in development of an anatomical structure|inhibition of apoptosis involved in development of an anatomical structure|inhibition of apoptotic process involved in development of an anatomical structure|negative regulation of apoptotic programmed cell death involved in development of an anatomical structure|negative regulation of apoptosis involved in anatomical structure development|down-regulation of commitment to apoptosis involved in anatomical structure development|down-regulation of apoptosis involved in anatomical structure development|inhibition of commitment to apoptosis involved in development of an anatomical structure|negative regulation of commitment to apoptosis involved in anatomical structure development|down-regulation of apoptotic programmed cell death involved in development of an anatomical structure|down regulation of apoptotic cell death involved in development of an anatomical structure|down-regulation of apoptotic process involved in development of an anatomical structure|negative regulation of activation of apoptosis involved in anatomical structure development|down-regulation of apoptotic program involved in development of an anatomical structure|down regulation of apoptotic programmed cell death involved in anatomical structure development|down-regulation of induction of apoptosis by p53 involved in development of an anatomical structure|inhibition of activation of apoptosis involved in development of an anatomical structure|negative regulation of apoptotic process involved in development of an anatomical structure|down-regulation of activation of apoptosis involved in anatomical structure development|negative regulation of induction of apoptosis by p53 involved in development of an anatomical structure|negative regulation of apoptotic program involved in development of an anatomical structure|downregulation of programmed cell death by apoptosis involved in anatomical structure development|inhibition of programmed cell death by apoptosis involved in anatomical structure development|downregulation of signaling (initiator) caspase activity involved in development of an anatomical structure|down regulation of induction of apoptosis by p53 involved in anatomical structure development|negative regulation of apoptotic cell death involved in anatomical structure development|down regulation of apoptotic program involved in anatomical structure development|down-regulation of apoptotic cell death involved in anatomical structure development|downregulation of type I programmed cell death involved in anatomical structure development|down regulation of apoptotic process involved in anatomical structure development|down regulation of signaling (initiator) caspase activity involved in anatomical structure development|down regulation of apoptosis signaling involved in development of an anatomical structure|inhibition of apoptotic programmed cell death involved in anatomical structure development|inhibition of type I programmed cell death involved in development of an anatomical structure|downregulation of induction of apoptosis involved in anatomical structure development|downregulation of apoptosis signaling involved in anatomical structure development|downregulation of apoptosis activator activity involved in anatomical structure development|negative regulation of apoptotic programmed cell death involved in anatomical structure development|inhibition of commitment to apoptosis involved in anatomical structure development|inhibition of apoptotic process involved in anatomical structure development|inhibition of apoptosis involved in anatomical structure development|inhibition of induction of apoptosis involved in development of an anatomical structure|inhibition of apoptosis activator activity involved in development of an anatomical structure|down-regulation of apoptotic programmed cell death involved in anatomical structure development|inhibition of activation of apoptosis involved in anatomical structure development|negative regulation of apoptotic program involved in anatomical structure development|downregulation of apoptotic cell death involved in development of an anatomical structure|inhibition of induction of apoptosis by p53 involved in development of an anatomical structure|down-regulation of induction of apoptosis by p53 involved in anatomical structure development|down regulation of apoptotic cell death involved in anatomical structure development|downregulation of commitment to apoptosis involved in development of an anatomical structure|negative regulation of apoptotic process involved in anatomical structure development|negative regulation of induction of apoptosis by p53 involved in anatomical structure development|downregulation of apoptosis involved in development of an anatomical structure|down-regulation of apoptotic program involved in anatomical structure development|inhibition of apoptotic program involved in development of an anatomical structure|inhibition of apoptotic cell death involved in development of an anatomical structure|down-regulation of apoptotic process involved in anatomical structure development|downregulation of activation of apoptosis involved in development of an anatomical structure|down-regulation of programmed cell death by apoptosis involved in development of an anatomical structure|downregulation of signaling (initiator) caspase activity involved in anatomical structure development|negative regulation of apoptosis signaling involved in development of an anatomical structure|down-regulation of apoptosis signaling involved in development of an anatomical structure|negative regulation of programmed cell death by apoptosis involved in development of an anatomical structure	http://purl.obolibrary.org/obo/GO_1904746		
CL:0000239	biolink:Cell	brush border epithelial cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000239		
MONDO:0025382	biolink:Disease	sarcoma, avian	Connective tissue tumors, affecting primarily fowl, that are usually caused by avian sarcoma viruses.	MESH:D001357	mondo.json	Avian sarcoma|sarcoma, Rous|Rous sarcoma|Avian sarcomas|sarcomas, Avian	http://purl.obolibrary.org/obo/MONDO_0025382	http://identifiers.org/mesh/D001357	
MONDO:0025385	biolink:Disease	bluetongue	A reovirus infection, chiefly of sheep, characterized by a swollen blue tongue, catarrhal inflammation of upper respiratory and gastrointestinal tracts, and often by inflammation of sensitive laminae of the feet and coronet.	UMLS:C0005866|MESH:D001819	mondo.json	tongue, blue|blue tongue	http://purl.obolibrary.org/obo/MONDO_0025385	UMLS:C0005866|http://identifiers.org/mesh/D001819	
OBO:ECTO_7000063	biolink:NamedThing	exposure to water in environment	A exposure event involving the interaction of an exposure receptor to liquid water.		mondo.json	liquid water exposure	http://purl.obolibrary.org/obo/ECTO_7000063		
CL:0000232	biolink:Cell	erythrocyte	A red blood cell. In mammals, mature erythrocytes are biconcave disks containing hemoglobin whose function is to transport oxygen.	FMA:81100|CALOHA:TS-0290|BTO:0000424	mondo.json	red blood cell|RBC	http://purl.obolibrary.org/obo/CL_0000232		
OBO:ECTO_7000064	biolink:NamedThing	exposure to air	A exposure event involving the interaction of an exposure receptor to air.		mondo.json	air exposure	http://purl.obolibrary.org/obo/ECTO_7000064		
CHEBI:132233	biolink:ChemicalSubstance	1-phenylpropan-2-amine	A primary amine that is isopropylamine in which a hydrogen attached to one of the methyl groups has been replaced by a phenyl group.		mondo.json	1-phenylpropan-2-amine	http://purl.obolibrary.org/obo/CHEBI_132233		
CL:0000233	biolink:Cell	platelet	A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation.	CALOHA:TS-0803|FMA:62851|BTO:0000132	mondo.json	enucleate thrombocyte|anucleate thrombocyte|blood platelet	http://purl.obolibrary.org/obo/CL_0000233		
CL:0000234	biolink:Cell	phagocyte	Any cell capable of ingesting particulate matter via phagocytosis.	FMA:83806|BTO:0001044	mondo.json		http://purl.obolibrary.org/obo/CL_0000234		
CL:0000235	biolink:Cell	macrophage	A mononuclear phagocyte present in variety of tissues, typically differentiated from monocytes, capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells.	FMA:83585|CALOHA:TS-0587|FMA:63261|BTO:0000801	mondo.json	histiocyte	http://purl.obolibrary.org/obo/CL_0000235		
CL:0000236	biolink:Cell	B cell	A lymphocyte of B lineage that is capable of B cell mediated immunity.	BTO:0000776|CALOHA:TS-0068|FMA:62869|VHOG:0001480	mondo.json	B-lymphocyte|B-cell|B lymphocyte	http://purl.obolibrary.org/obo/CL_0000236		
GO:0001578	biolink:NamedThing	microtubule bundle formation	A process that results in a parallel arrangement of microtubules.		mondo.json	microtubule bundling	http://purl.obolibrary.org/obo/GO_0001578		
OBO:ECTO_7000069	biolink:NamedThing	exposure to organic material	A exposure event involving the interaction of an exposure receptor to organic material.		mondo.json	organic material exposure	http://purl.obolibrary.org/obo/ECTO_7000069		
CL:0000206	biolink:Cell	chemoreceptor cell	A cell specialized to detect chemical substances and relay that information centrally in the nervous system. Chemoreceptors may monitor external stimuli, as in taste and olfaction, or internal stimuli, such as the concentrations of oxygen and carbon dioxide in the blood.		mondo.json		http://purl.obolibrary.org/obo/CL_0000206		
GO:0001570	biolink:NamedThing	vasculogenesis	The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes.		mondo.json	vascular morphogenesis	http://purl.obolibrary.org/obo/GO_0001570		
CL:0000207	biolink:Cell	olfactory receptor cell		BTO:0004185|Wikipedia:Olfactory_receptor_neuron|FMA:67860	mondo.json	olfactory sensory neuron|Schultze's cell|odorant receptor cell|olfactory receptor neuron	http://purl.obolibrary.org/obo/CL_0000207		
CL:0000209	biolink:Cell	taste receptor cell	A cell type found in the spherical or ovoid clusters of receptor cells found mainly in the epithelium of the tongue and constituting the end organs of the sense of taste.	FMA:67910	mondo.json	taste bud cell	http://purl.obolibrary.org/obo/CL_0000209		
HGNC:24154	biolink:NamedThing	BMPER			mondo.json		http://identifiers.org/hgnc/24154		
OBO:ECTO_7000068	biolink:NamedThing	exposure to particulate matter	A exposure event involving the interaction of an exposure receptor to particulate matter.		mondo.json	particulate matter exposure	http://purl.obolibrary.org/obo/ECTO_7000068		
OBO:ECTO_7000073	biolink:NamedThing	exposure to mineral material	A exposure event involving the interaction of an exposure receptor to mineral material.		mondo.json	mineral material exposure	http://purl.obolibrary.org/obo/ECTO_7000073		
OBO:ECTO_7000075	biolink:NamedThing	exposure to permafrost	A exposure event involving the interaction of an exposure receptor to permafrost.		mondo.json	permafrost exposure	http://purl.obolibrary.org/obo/ECTO_7000075		
OBO:ECTO_7000070	biolink:NamedThing	exposure to snow	A exposure event involving the interaction of an exposure receptor to snow.		mondo.json	snow exposure	http://purl.obolibrary.org/obo/ECTO_7000070		
GO:0098531	biolink:NamedThing	ligand-activated transcription factor activity	A DNA-binding transcription factor activity regulated by binding to a ligand and that modulates the transcription of specific gene sets. Examples include the lac and trp repressors in E.coli and steroid hormone receptors.		mondo.json	transcription factor activity, direct ligand regulated sequence-specific DNA binding|direct ligand regulated sequence-specific DNA binding transcription factor activity	http://purl.obolibrary.org/obo/GO_0098531		
HGNC:288	biolink:NamedThing	ADRB3			mondo.json		http://identifiers.org/hgnc/288		
GO:1902106	biolink:NamedThing	negative regulation of leukocyte differentiation	Any process that stops, prevents or reduces the frequency, rate or extent of leukocyte differentiation.		mondo.json	down regulation of leukocyte differentiation|downregulation of leukocyte differentiation|inhibition of leukocyte differentiation|down-regulation of immune cell differentiation|down-regulation of leucocyte differentiation|negative regulation of leucocyte differentiation|negative regulation of immune cell differentiation|down regulation of leucocyte differentiation|down regulation of immune cell differentiation|downregulation of leucocyte differentiation|inhibition of leucocyte differentiation|inhibition of immune cell differentiation|downregulation of immune cell differentiation|down-regulation of leukocyte differentiation	http://purl.obolibrary.org/obo/GO_1902106		
CL:0000215	biolink:Cell	barrier cell	A cell whose primary function is to prevent the transport of stuff across compartments.		mondo.json		http://purl.obolibrary.org/obo/CL_0000215		
GO:1902107	biolink:NamedThing	positive regulation of leukocyte differentiation	Any process that activates or increases the frequency, rate or extent of leukocyte differentiation.		mondo.json	up regulation of leucocyte differentiation|up regulation of immune cell differentiation|activation of leucocyte differentiation|activation of immune cell differentiation|positive regulation of immune cell differentiation|positive regulation of leucocyte differentiation|up-regulation of leukocyte differentiation|upregulation of leucocyte differentiation|upregulation of immune cell differentiation|up regulation of leukocyte differentiation|activation of leukocyte differentiation|up-regulation of immune cell differentiation|up-regulation of leucocyte differentiation|upregulation of leukocyte differentiation	http://purl.obolibrary.org/obo/GO_1902107		
HGNC:286	biolink:NamedThing	ADRB2			mondo.json		http://identifiers.org/hgnc/286		
CL:0000216	biolink:Cell	Sertoli cell	A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier.	BTO:0001238|CALOHA:TS-0922|FMA:72298|VHOG:0001348	mondo.json		http://purl.obolibrary.org/obo/CL_0000216		
GO:1902105	biolink:NamedThing	regulation of leukocyte differentiation	Any process that modulates the frequency, rate or extent of leukocyte differentiation.		mondo.json	regulation of immune cell differentiation|regulation of leucocyte differentiation	http://purl.obolibrary.org/obo/GO_1902105		
CL:0000219	biolink:Cell	motile cell	A cell that moves by its own activities.		mondo.json		http://purl.obolibrary.org/obo/CL_0000219		
HGNC:282	biolink:NamedThing	ADRA2B			mondo.json		http://identifiers.org/hgnc/282		
OBO:ECTO_7000083	biolink:NamedThing	exposure to contaminated sediment	A exposure event involving the interaction of an exposure receptor to chemically enriched sediment.		mondo.json	chemically enriched sediment exposure	http://purl.obolibrary.org/obo/ECTO_7000083		
CL:0000210	biolink:Cell	photoreceptor cell	A cell specialized to detect and transduce light.	FBbt:00004211|CALOHA:TS-0868|FMA:86740|BTO:0001060	mondo.json		http://purl.obolibrary.org/obo/CL_0000210		
CL:0000211	biolink:Cell	electrically active cell	A cell whose function is determined by the generation or the reception of an electric signal.		mondo.json		http://purl.obolibrary.org/obo/CL_0000211		
HGNC:24160	biolink:NamedThing	BEAN1			mondo.json		http://identifiers.org/hgnc/24160		
CL:0000213	biolink:Cell	lining cell	A cell within an epithelial cell sheet whose main function is to act as an internal or external covering for a tissue or an organism.		mondo.json	boundary cell	http://purl.obolibrary.org/obo/CL_0000213		
CL:0000214	biolink:Cell	synovial cell	A cell located in the synovial joint.	CALOHA:TS-0995	mondo.json	synoviocyte	http://purl.obolibrary.org/obo/CL_0000214		
HGNC:257	biolink:NamedThing	ADK			mondo.json		http://identifiers.org/hgnc/257		
GO:0001553	biolink:NamedThing	luteinization	The set of processes resulting in differentiation of theca and granulosa cells into luteal cells and in the formation of a corpus luteum after ovulation.		mondo.json	luteal phase	http://purl.obolibrary.org/obo/GO_0001553		
GO:1902117	biolink:NamedThing	positive regulation of organelle assembly	Any process that activates or increases the frequency, rate or extent of organelle assembly.		mondo.json	up-regulation of organelle assembly|activation of organelle assembly|upregulation of organelle assembly|up regulation of organelle assembly	http://purl.obolibrary.org/obo/GO_1902117		
GO:1902115	biolink:NamedThing	regulation of organelle assembly	Any process that modulates the frequency, rate or extent of organelle assembly.		mondo.json		http://purl.obolibrary.org/obo/GO_1902115		
HGNC:26790	biolink:NamedThing	WDR72			mondo.json		http://identifiers.org/hgnc/26790		
HGNC:251	biolink:NamedThing	ADH1C			mondo.json		http://identifiers.org/hgnc/251		
GO:1902116	biolink:NamedThing	negative regulation of organelle assembly	Any process that stops, prevents or reduces the frequency, rate or extent of organelle assembly.		mondo.json	down regulation of organelle assembly|inhibition of organelle assembly|down-regulation of organelle assembly|downregulation of organelle assembly	http://purl.obolibrary.org/obo/GO_1902116		
HGNC:250	biolink:NamedThing	ADH1B			mondo.json		http://identifiers.org/hgnc/250		
GO:1902113	biolink:NamedThing	nucleotide phosphorylation involved in DNA repair	Any nucleotide phosphorylation that is involved in DNA repair.		mondo.json		http://purl.obolibrary.org/obo/GO_1902113		
GO:1904775	biolink:NamedThing	positive regulation of ubiquinone biosynthetic process	Any process that activates or increases the frequency, rate or extent of ubiquinone biosynthetic process.		mondo.json	up regulation of coenzyme Q biosynthetic process|up-regulation of ubiquinone formation|up regulation of coenzyme Q biosynthesis|activation of coenzyme Q10 biosynthesis|activation of coenzyme Q10 biosynthetic process|activation of ubiquinone formation|upregulation of coenzyme Q6 biosynthesis|upregulation of coenzyme Q6 biosynthetic process|upregulation of ubiquinone anabolism|activation of coenzyme Q8 biosynthetic process|activation of coenzyme Q biosynthetic process|activation of coenzyme Q biosynthesis|up-regulation of ubiquinone biosynthesis|activation of coenzyme Q8 biosynthesis|up-regulation of ubiquinone biosynthetic process|activation of coenzyme Q9 biosynthetic process|upregulation of coenzyme Q8 biosynthetic process|activation of coenzyme Q9 biosynthesis|positive regulation of coenzyme Q biosynthetic process|positive regulation of coenzyme Q biosynthesis|upregulation of coenzyme Q8 biosynthesis|upregulation of coenzyme Q9 biosynthesis|upregulation of coenzyme Q9 biosynthetic process|up regulation of ubiquinone biosynthesis|positive regulation of coenzyme Q6 biosynthesis|positive regulation of coenzyme Q6 biosynthetic process|positive regulation of ubiquinone anabolism|up regulation of ubiquinone biosynthetic process|upregulation of ubiquinone synthesis|activation of ubiquinone biosynthesis|activation of ubiquinone biosynthetic process|positive regulation of coenzyme Q8 biosynthetic process|up regulation of ubiquinone anabolism|upregulation of coenzyme Q biosynthesis|up-regulation of coenzyme Q10 biosynthesis|upregulation of coenzyme Q biosynthetic process|positive regulation of coenzyme Q8 biosynthesis|up-regulation of coenzyme Q10 biosynthetic process|up regulation of coenzyme Q6 biosynthetic process|positive regulation of ubiquinone biosynthesis|up regulation of coenzyme Q6 biosynthesis|positive regulation of coenzyme Q9 biosynthetic process|positive regulation of coenzyme Q9 biosynthesis|upregulation of ubiquinone formation|up regulation of coenzyme Q8 biosynthetic process|positive regulation of ubiquinone synthesis|up regulation of coenzyme Q8 biosynthesis|up-regulation of ubiquinone anabolism|up-regulation of coenzyme Q6 biosynthetic process|up regulation of coenzyme Q10 biosynthetic process|up-regulation of coenzyme Q6 biosynthesis|up regulation of coenzyme Q9 biosynthesis|up regulation of coenzyme Q10 biosynthesis|up regulation of coenzyme Q9 biosynthetic process|activation of ubiquinone anabolism|up regulation of ubiquinone synthesis|upregulation of ubiquinone biosynthetic process|upregulation of ubiquinone biosynthesis|positive regulation of coenzyme Q10 biosynthesis|positive regulation of ubiquinone formation|positive regulation of coenzyme Q10 biosynthetic process|up-regulation of coenzyme Q8 biosynthesis|up-regulation of coenzyme Q8 biosynthetic process|up-regulation of coenzyme Q9 biosynthesis|up-regulation of coenzyme Q9 biosynthetic process|up-regulation of coenzyme Q biosynthetic process|up-regulation of ubiquinone synthesis|up regulation of ubiquinone formation|activation of ubiquinone synthesis|up-regulation of coenzyme Q biosynthesis|activation of coenzyme Q6 biosynthetic process|upregulation of coenzyme Q10 biosynthetic process|upregulation of coenzyme Q10 biosynthesis|activation of coenzyme Q6 biosynthesis	http://purl.obolibrary.org/obo/GO_1904775		
GO:1904774	biolink:NamedThing	negative regulation of ubiquinone biosynthetic process	Any process that stops, prevents or reduces the frequency, rate or extent of ubiquinone biosynthetic process.		mondo.json	downregulation of ubiquinone biosynthesis|negative regulation of coenzyme Q6 biosynthesis|negative regulation of coenzyme Q6 biosynthetic process|down-regulation of coenzyme Q6 biosynthetic process|inhibition of ubiquinone biosynthetic process|down regulation of coenzyme Q9 biosynthesis|down-regulation of coenzyme Q6 biosynthesis|down regulation of ubiquinone synthesis|inhibition of ubiquinone biosynthesis|down regulation of coenzyme Q9 biosynthetic process|downregulation of ubiquinone biosynthetic process|negative regulation of coenzyme Q8 biosynthetic process|down-regulation of coenzyme Q8 biosynthetic process|negative regulation of coenzyme Q8 biosynthesis|down regulation of coenzyme Q10 biosynthetic process|down-regulation of coenzyme Q8 biosynthesis|inhibition of ubiquinone synthesis|down regulation of coenzyme Q10 biosynthesis|down-regulation of coenzyme Q9 biosynthesis|negative regulation of coenzyme Q9 biosynthetic process|down-regulation of coenzyme Q9 biosynthetic process|down regulation of ubiquinone formation|negative regulation of ubiquinone synthesis|down-regulation of ubiquinone synthesis|negative regulation of coenzyme Q9 biosynthesis|inhibition of coenzyme Q6 biosynthesis|inhibition of coenzyme Q6 biosynthetic process|down-regulation of coenzyme Q biosynthetic process|down-regulation of coenzyme Q biosynthesis|negative regulation of coenzyme Q biosynthesis|inhibition of ubiquinone formation|negative regulation of coenzyme Q biosynthetic process|inhibition of coenzyme Q8 biosynthetic process|downregulation of coenzyme Q10 biosynthetic process|inhibition of coenzyme Q8 biosynthesis|downregulation of coenzyme Q10 biosynthesis|negative regulation of ubiquinone formation|down-regulation of ubiquinone formation|inhibition of coenzyme Q9 biosynthesis|inhibition of coenzyme Q9 biosynthetic process|down regulation of coenzyme Q biosynthetic process|down regulation of coenzyme Q biosynthesis|downregulation of ubiquinone anabolism|downregulation of coenzyme Q6 biosynthesis|negative regulation of ubiquinone biosynthesis|down-regulation of ubiquinone biosynthesis|downregulation of coenzyme Q6 biosynthetic process|down-regulation of ubiquinone biosynthetic process|downregulation of coenzyme Q8 biosynthetic process|inhibition of coenzyme Q10 biosynthesis|downregulation of coenzyme Q8 biosynthesis|inhibition of coenzyme Q10 biosynthetic process|downregulation of coenzyme Q9 biosynthesis|downregulation of coenzyme Q biosynthetic process|downregulation of coenzyme Q biosynthesis|down regulation of ubiquinone biosynthetic process|down regulation of ubiquinone anabolism|downregulation of ubiquinone synthesis|inhibition of coenzyme Q biosynthetic process|downregulation of coenzyme Q9 biosynthetic process|down regulation of ubiquinone biosynthesis|inhibition of coenzyme Q biosynthesis|down regulation of coenzyme Q6 biosynthetic process|down regulation of coenzyme Q6 biosynthesis|inhibition of ubiquinone anabolism|negative regulation of coenzyme Q10 biosynthetic process|negative regulation of coenzyme Q10 biosynthesis|down regulation of coenzyme Q8 biosynthetic process|down-regulation of coenzyme Q10 biosynthesis|down-regulation of coenzyme Q10 biosynthetic process|downregulation of ubiquinone formation|negative regulation of ubiquinone anabolism|down-regulation of ubiquinone anabolism|down regulation of coenzyme Q8 biosynthesis	http://purl.obolibrary.org/obo/GO_1904774		
GO:1904783	biolink:NamedThing	positive regulation of NMDA glutamate receptor activity	Any process that activates or increases the frequency, rate or extent of NMDA glutamate receptor activity.		mondo.json	upregulation of N-methyl-D-aspartate selective glutamate receptor activity|upregulation of NMDA receptor|positive regulation of N-methyl-D-aspartate selective glutamate receptor activity|upregulation of NMDA glutamate receptor activity|up regulation of N-methyl-D-aspartate selective glutamate receptor activity|up-regulation of NMDA receptor|up-regulation of N-methyl-D-aspartate selective glutamate receptor activity|activation of N-methyl-D-aspartate selective glutamate receptor activity|up regulation of NMDA glutamate receptor activity|up regulation of NMDA receptor|positive regulation of NMDA receptor|activation of NMDA receptor|up-regulation of NMDA glutamate receptor activity|activation of NMDA glutamate receptor activity	http://purl.obolibrary.org/obo/GO_1904783		
GO:1904782	biolink:NamedThing	negative regulation of NMDA glutamate receptor activity	Any process that stops, prevents or reduces the frequency, rate or extent of NMDA glutamate receptor activity.		mondo.json	down-regulation of N-methyl-D-aspartate selective glutamate receptor activity|negative regulation of N-methyl-D-aspartate selective glutamate receptor activity|down-regulation of NMDA receptor|down regulation of NMDA glutamate receptor activity|negative regulation of NMDA receptor|inhibition of NMDA glutamate receptor activity|down-regulation of NMDA glutamate receptor activity|down regulation of NMDA receptor|inhibition of NMDA receptor|downregulation of N-methyl-D-aspartate selective glutamate receptor activity|downregulation of NMDA receptor|down regulation of N-methyl-D-aspartate selective glutamate receptor activity|inhibition of N-methyl-D-aspartate selective glutamate receptor activity|downregulation of NMDA glutamate receptor activity	http://purl.obolibrary.org/obo/GO_1904782		
CHEBI:39472	biolink:ChemicalSubstance	1,3,4-thiadiazole			mondo.json	1,3,4-thiadiazole	http://purl.obolibrary.org/obo/CHEBI_39472		
GO:0001568	biolink:NamedThing	blood vessel development	The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood.		mondo.json		http://purl.obolibrary.org/obo/GO_0001568		
GO:0001569	biolink:NamedThing	branching involved in blood vessel morphogenesis	The process of coordinated growth and sprouting of blood vessels giving rise to the organized vascular system.		mondo.json	patterning of blood vessels	http://purl.obolibrary.org/obo/GO_0001569		
MONDO:0037398	biolink:Disease	pneumonia caused by pseudomonas aeruginosa infection	A rare pulmonary disease characterized by primary or nonbacteremic pneumonia most frequently arising in an intensive care setting, or bacteremic pneumonia, which is typically associated with neutropenia. Chronic lower respiratory tract infection with development of episodes of pneumonia is common in patients with cystic fibrosis. Acute infections are potentially life-threatening. Patients present with fever, chills, dyspnea, cyanosis, productive cough, as well as signs of severe systemic toxicity. Alveolar hemorrhage, necrosis, and, eventually, cavity formation, are commonly seen.	Orphanet:90066	mondo.json		http://purl.obolibrary.org/obo/MONDO_0037398	Orphanet:90066	ordo_disorder
MONDO:0001367	biolink:Disease	chronic congestive splenomegaly	Chronic form of congestive splenomegaly.	DOID:11787|ICD9:289.51|ICD10CM:D73.2|SCTID:191382009|UMLS:C0398661	mondo.json	congestive splenomegaly, chronic	http://purl.obolibrary.org/obo/MONDO_0001367	UMLS:C0398661|http://identifiers.org/snomedct/191382009|DOID:11787|http://purl.bioontology.org/ontology/ICD10CM/D73.2	
HGNC:24116	biolink:NamedThing	RNASEH2C			mondo.json		http://identifiers.org/hgnc/24116		
MONDO:0001366	biolink:Disease	splenic sequestration		DOID:11786|ICD9:289.52	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001366	DOID:11786	
MONDO:0001365	biolink:Disease	necrosis of ear ossicle		ICD9:385.24|DOID:11783	mondo.json	partial loss or necrosis of ear ossicles	http://purl.obolibrary.org/obo/MONDO_0001365	DOID:11783	
HP:0010280	biolink:PhenotypicFeature	Stomatitis	Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.	MSH:D013280|UMLS:C0038362|UMLS:C0149704|SNOMEDCT_US:20607006|SNOMEDCT_US:61170000	mondo.json	Gingivostomatitis|Inflammation of the mouth	http://purl.obolibrary.org/obo/HP_0010280		hposlim_core
MONDO:0001364	biolink:Disease	regular astigmatism		UMLS:C0152193|SCTID:68905002|DOID:11781|ICD9:367.21	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001364	http://identifiers.org/snomedct/68905002|DOID:11781|UMLS:C0152193	
ENVO:01000277	biolink:NamedThing	water ice	Ice which is formed from water.		mondo.json	ice	http://purl.obolibrary.org/obo/ENVO_01000277		
MONDO:0001369	biolink:Disease	chronic laryngitis	Persistent laryngitis usually caused by smoking, heavy alcohol consumption, voice abuse, or gastroesophageal reflux disease. It results in hoarseness and other voice changes.	ICD9:476.0|SCTID:29951006|DOID:11797|UMLS:C0155836|NCIT:C26975|ICD10CM:J37.0	mondo.json	laryngitis, chronic	http://purl.obolibrary.org/obo/MONDO_0001369	http://purl.bioontology.org/ontology/ICD10CM/J37.0|http://identifiers.org/snomedct/29951006|UMLS:C0155836|DOID:11797|NCIT:C26975	
MONDO:0001368	biolink:Disease	phthisical cornea		UMLS:C0155102|ICD9:371.05|SCTID:28143002|DOID:11793	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001368	UMLS:C0155102|http://identifiers.org/snomedct/28143002|DOID:11793	
CHR:9606-chr3p25	biolink:NamedThing	3p25 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr3p25		
MONDO:0001363	biolink:Disease	blind hypertensive eye		SCTID:264008|DOID:11776|UMLS:C0154789|ICD9:360.42	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001363	UMLS:C0154789|DOID:11776|http://identifiers.org/snomedct/264008	
MONDO:0001362	biolink:Disease	obsolete leukocoria	OBSOLETE. An abnormal white reflection from the retina of the eye.	UMLS:C0152458|SCTID:1361009|DOID:11772|ICD9:360.44	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001362	DOID:11772|UMLS:C0152458|http://identifiers.org/snomedct/1361009	
MONDO:0001361	biolink:Disease	spontaneous ocular nystagmus	Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)	ICD9:379.53|SCTID:45339001|DOID:11771|ICD10CM:H55.03|UMLS:C0271384	mondo.json	visual deprivation nystagmus|ocular nystagmus|searching eye movements	http://purl.obolibrary.org/obo/MONDO_0001361	http://purl.bioontology.org/ontology/ICD10CM/H55.03|DOID:11771|http://identifiers.org/snomedct/45339001|UMLS:C0271384	
MONDO:0001360	biolink:Disease	blind hypotensive eye		ICD9:360.41|DOID:11766|UMLS:C0154788|SCTID:23360000	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001360	DOID:11766|UMLS:C0154788|http://identifiers.org/snomedct/23360000	
MONDO:0013356	biolink:Disease	vesicoureteral reflux 3	Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene.	UMLS:C3150927|OMIM:613674	mondo.json	SOX17 vesicoureteral reflux (disease)|vesicoureteral reflux type 3|vesicoureteral reflux (disease) caused by mutation in SOX17|VUR3|vesicoureteral reflux 3	http://purl.obolibrary.org/obo/MONDO_0013356	UMLS:C3150927|https://omim.org/entry/613674	
MONDO:0040964	biolink:Disease	obsolete superimposed infection		UMLS:C0038826|SCTID:193198003	mondo.json	superimposed infection|superadded infection|suprainfection	http://purl.obolibrary.org/obo/MONDO_0040964	http://identifiers.org/snomedct/193198003|UMLS:C0038826	
OBO:ECTO_9000049	biolink:NamedThing	exposure to carbon dioxide	An exposure to carbon dioxide.		mondo.json	exposure to carbon dioxide	http://purl.obolibrary.org/obo/ECTO_9000049		
MONDO:0013357	biolink:Disease	chromosome 17q11.2 deletion syndrome, 1.4Mb	A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.	UMLS:C3280095|Orphanet:139474|MESH:C563524|Orphanet:137634|Orphanet:97685|SCTID:722122000|OMIM:613675|GARD:0005408|DOID:0060403	mondo.json	neurofibromatosis 1 microdeletion syndrome|NF1 microduplication syndrome|MMFD|17q11 microdeletion syndrome|RNF135-related overgrowth syndrome|Van Asperen syndrome|Del(17)(q11)|macrocephaly, macrosomia, and facial dysmorphism syndrome|NF1 microdeletion syndrome|chromosome 17q11.2 deletion syndrome, 1.4-MB|monosomy 17q11|overgrowth-macrocephaly-facial dysmorphism syndrome|chromosome 17q11.2 deletion syndrome|neurofibromatosis type 1 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013357	Orphanet:97685|http://identifiers.org/snomedct/722122000|DOID:0060403|http://identifiers.org/mesh/C563524|https://omim.org/entry/613675|Orphanet:137634	ordo_malformation_syndrome|ordo_clinical_subtype
MONDO:0013354	biolink:Disease	spastic ataxia 4	Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene.	GARD:0010992|Orphanet:254343|ICD10CM:G11.4|UMLS:CN230090|DOID:0050943|UMLS:C3150925|OMIM:613672	mondo.json	autosomal recessive spastic ataxia 4|spastic ataxia 4, autosomal recessive|autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome|autosomal recessive spastic ataxia type 4|MTPAP autosomal recessive spastic ataxia|spastic ataxia type 4|autosomal recessive spastic ataxia - optic atrophy - dysarthria|autosomal recessive spastic ataxia caused by mutation in MTPAP|SPAX4	http://purl.obolibrary.org/obo/MONDO_0013354	Orphanet:254343|DOID:0050943|UMLS:C3150925|https://omim.org/entry/613672|UMLS:CN230090	ordo_disease
MONDO:0013355	biolink:Disease	congenital dyserythropoietic anemia type 4	Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.	OMIM:613673|Orphanet:293825|DOID:0111400|SCTID:719453009|UMLS:C3150926	mondo.json	congenital dyserythropoietic anemia due to KLF1 mutation|CDA type 4|CDA IV|CDA, type 4|anemia, congenital dyserythropoietic, type IV|congenital dyserythropoietic anemia type 4|dyserythropoietic anemia, congenital, type IV|anemia, congenital dyserythropoietic, type 4|CDAN4|CDA due to KLF1 mutation|CDA type IV	http://purl.obolibrary.org/obo/MONDO_0013355	DOID:0111400|UMLS:C3150926|http://identifiers.org/snomedct/719453009|Orphanet:293825|https://omim.org/entry/613673	ordo_disease
MONDO:0013358	biolink:Disease	Seckel syndrome 4	Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ gene.	OMIM:613676|DOID:0070010|UMLS:C3888212	mondo.json	CENPJ Seckel syndrome|Seckel syndrome type 4|Seckel syndrome caused by mutation in CENPJ|Seckel syndrome 4|SCKL4	http://purl.obolibrary.org/obo/MONDO_0013358	https://omim.org/entry/613676|DOID:0070010|UMLS:C3888212	
MONDO:0013359	biolink:Disease	familial hyperaldosteronism type III	Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.	UMLS:C3838758|OMIM:613677|GARD:0012362|UMLS:C3150933|SCTID:703234002|Orphanet:251274	mondo.json	FH3|hyperaldosteronism, familial, type 3|HALD3|FH-III|FH 3|FH III|familial hyperaldosteronism type 3|hyperaldosteronism, familial, type III	http://purl.obolibrary.org/obo/MONDO_0013359	http://identifiers.org/snomedct/703234002|UMLS:C3150933|UMLS:C3838758|Orphanet:251274|https://omim.org/entry/613677	ordo_disease
PO:0009062	biolink:NamedThing	gynoecium	A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046).	PO_GIT:98|PO_GIT:470|PO_GIT:71	mondo.json	雌蕊群 (Japanese, exact)|gynoecium of lower floret of sessile spikelet of ear (narrow)|gynoecium of upper floret of sessile spikelet of ear (narrow)|apocarpous gynoecium (narrow)|gynoecium of upper floret of pedicellate spikelet of tassel (narrow)|gynoecium of lower floret of pedicellate spikelet of tassel (narrow)|gynoecium of lower floret of pedicellate spikelet of ear (narrow)|Zea gynoecium (narrow)|gynoecium of upper floret of pedicellate spikelet of ear (narrow)|ginoecio (Spanish, exact)|gynoecia (exact, plural)|Poaceae gynoecium (narrow)|syncarpous gynoecium (narrow)|gynoecium of upper floret of sessile spikelet of tassel (narrow)|gynaecium (exact)|gynoecium of lower floret of sessile spikelet of tassel (narrow)|gynoecium of ear floret (narrow)|gynoecium of tassel floret (narrow)|pistil (broad)	http://purl.obolibrary.org/obo/PO_0009062		TraitNet|reference
ENVO:01000274	biolink:NamedThing	slate	Slate is a metamorphic rock which is fine-grained, foliated, homogeneous, Slates are derived from clastic sedimentary rocks.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000274		
OBO:ECTO_9000044	biolink:NamedThing	exposure to ketone	An exposure to ketone.		mondo.json	exposure to ketone	http://purl.obolibrary.org/obo/ECTO_9000044		
ENVO:01000276	biolink:NamedThing	ecoregion	A large unit of land or water containing a geographically distinct assemblage of species, natural communities, and environmental conditions.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000276		
MONDO:0013352	biolink:Disease	intellectual disability-severe speech delay-mild dysmorphism syndrome	Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene.	OMIM:613670|DOID:0111331|EFO:1001500|UMLS:CN204965|UMLS:C3150923|GARD:0012501|Orphanet:391372	mondo.json	FOXP1 related global developmental delay, intellectual disability and speech defects|mental retardation with language impairment and with or without autistic features|intellectual disability-severe speech delay-mild dysmorphism syndrome|intellectual disability with language impairment and with or without autistic features	http://purl.obolibrary.org/obo/MONDO_0013352	DOID:0111331|UMLS:C3150923|https://omim.org/entry/613670|UMLS:CN204965|Orphanet:391372	gard_rare|ordo_malformation_syndrome
MONDO:0013353	biolink:Disease	intellectual disability, anterior maxillary protrusion, and strabismus		OMIM:613671|Orphanet:562559|UMLS:C3150924	mondo.json	intellectual disability, anterior maxillary protrusion, and strabismus|MRAMS|mental retardation, anterior maxillary protrusion, and strabismus	http://purl.obolibrary.org/obo/MONDO_0013353	UMLS:C3150924|https://omim.org/entry/613671|Orphanet:562559	
MONDO:0013350	biolink:Disease	mitochondrial DNA depletion syndrome 4b		OMIM:613662|UMLS:C3150914|Orphanet:298|DOID:0080123	mondo.json	mitochondrial DNA depletion syndrome type 4b|mitochondrial neurogastrointestinal encephalopathy syndrome, Polg-related|Mngie, Polg-related|mitochondrial DNA depletion syndrome 4B (MNGIE type)|MTDPS4B	http://purl.obolibrary.org/obo/MONDO_0013350	UMLS:C3150914|https://omim.org/entry/613662|DOID:0080123	
ENVO:01000271	biolink:NamedThing	clastic sedimentary rock	Clastic sedimentary rocks are sedimentary rocks that are composed of silicate minerals and rock fragments that were transported by moving fluids. Clastic rocks are composed largely of quartz, feldspar, rock (lithic) fragments, clay minerals, and mica; numerous other minerals may be present as accessories and may be important locally.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000271		
MONDO:0013351	biolink:Disease	infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.	UMLS:C3150921|DOID:0111262|OMIM:613668|GARD:0010995|Orphanet:402364	mondo.json	microcephaly, postnatal progressive, with seizures and brain atrophy|postnatal progressive microcephaly, seizures, and brain atrophy	http://purl.obolibrary.org/obo/MONDO_0013351	UMLS:C3150921|https://omim.org/entry/613668|Orphanet:402364|DOID:0111262	ordo_malformation_syndrome
MONDO:0001378	biolink:Disease	urachus cancer	A malignant neoplasm involving the urachus.	ICD9:188.7|UMLS:C0153615|DOID:11817|SCTID:363456000	mondo.json	malignant neoplasm of urachus|urachus cancer|malignant urachus neoplasm|malignant tumor of urachus|cancer of urachus	http://purl.obolibrary.org/obo/MONDO_0001378	http://identifiers.org/snomedct/363456000|DOID:11817|UMLS:C0153615	
MONDO:0001377	biolink:Disease	vitreous syneresis		SCTID:60189009|UMLS:C0155366|ICD9:379.21|DOID:11816	mondo.json	vitreous degeneration	http://purl.obolibrary.org/obo/MONDO_0001377	UMLS:C0155366|http://identifiers.org/snomedct/60189009|DOID:11816	
MONDO:0001376	biolink:Disease	urinary bladder anterior wall cancer		UMLS:C0153611|ICD9:188.3|SCTID:188242006|DOID:11814	mondo.json	malignant neoplasm of anterior wall of urinary bladder	http://purl.obolibrary.org/obo/MONDO_0001376	DOID:11814|UMLS:C0153611|http://identifiers.org/snomedct/188242006	
CHEBI:76414	biolink:ChemicalSubstance	propellant	A compressed gas or liquid with a boiling point lower than room temperature which to used to propel and dispense liquids such as deodorants, insecticides, paints, etc. from aerosol cans.		mondo.json	propellants	http://purl.obolibrary.org/obo/CHEBI_76414		
MONDO:0001375	biolink:Disease	bladder trigone cancer	A malignant neoplasm involving the trigone of urinary bladder.	SCTID:188239000|ICD9:188.0|UMLS:C0496826|DOID:11813	mondo.json	trigone of urinary bladder cancer|cancer of trigone of urinary bladder|malignant trigone of urinary bladder neoplasm|malignant neoplasm of trigone of urinary bladder	http://purl.obolibrary.org/obo/MONDO_0001375	DOID:11813|http://identifiers.org/snomedct/188239000|UMLS:C0496826	
ENVO:01000266	biolink:NamedThing	water vapour	Water vapour is a vapour which is the gas phase of water.		mondo.json	water vapor|aqueous vapour|aqueous vapor	http://purl.obolibrary.org/obo/ENVO_01000266		
ENVO:01000267	biolink:NamedThing	atmosphere	An atmosphere is a layer of gases surrounding a material body of sufficient mass that is held in place by the gravity of the body.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000267		
ENVO:01000268	biolink:NamedThing	atmospheric water vapour	Atmospheric water vapour is water vapour that is part of an atmosphere.		mondo.json	atmospheric water vapor	http://purl.obolibrary.org/obo/ENVO_01000268		
MONDO:0001379	biolink:Disease	ureteric orifice cancer	A malignant neoplasm involving the ureteral orifice.	SCTID:188245008|ICD9:188.6|UMLS:C0153614|DOID:11818	mondo.json	cancer of ureteral orifice|malignant ureteral orifice neoplasm|malignant tumor of ureteric orifice|malignant neoplasm of ureteral orifice|malignant neoplasm of ureteric orifice of urinary bladder|orifice of the ureter|ureteral orifice cancer	http://purl.obolibrary.org/obo/MONDO_0001379	http://identifiers.org/snomedct/188245008|DOID:11818|UMLS:C0153614	
MONDO:0001370	biolink:Disease	pericardial effusion	Fluid collection within the pericardial sac, usually due to inflammation.	MESH:D010490|HP:0001698|NCIT:C3319|SCTID:373945007|DOID:118|UMLS:C0031039	mondo.json	fluid, pericardial|pericardial effusion|pericardial effusion (disease)|pericardial fluid	http://purl.obolibrary.org/obo/MONDO_0001370	http://identifiers.org/mesh/D010490|http://identifiers.org/snomedct/373945007|NCIT:C3319|UMLS:C0031039|DOID:118	
MONDO:0001374	biolink:Disease	bladder sarcoma	A malignant mesenchymal cell neoplasm that affects the urinary bladder.	DOID:11812|NCIT:C4669|SCTID:278046008|UMLS:C0349666	mondo.json	sarcoma of the bladder|bladder sarcoma|sarcoma of bladder|urinary bladder sarcoma|sarcoma of urinary bladder|sarcoma of the urinary bladder	http://purl.obolibrary.org/obo/MONDO_0001374	UMLS:C0349666|DOID:11812|NCIT:C4669|http://identifiers.org/snomedct/278046008	
HGNC:24123	biolink:NamedThing	B9D1			mondo.json		http://identifiers.org/hgnc/24123		
MONDO:0001373	biolink:Disease	urinary bladder posterior wall cancer		DOID:11811|UMLS:C0153612|SCTID:188243001|ICD9:188.4	mondo.json	malignant neoplasm of posterior wall of urinary bladder	http://purl.obolibrary.org/obo/MONDO_0001373	http://identifiers.org/snomedct/188243001|DOID:11811|UMLS:C0153612	
HGNC:24124	biolink:NamedThing	ACTL6A			mondo.json		http://identifiers.org/hgnc/24124		
MONDO:0001372	biolink:Disease	bladder neck cancer	A malignant neoplasm involving the neck of urinary bladder.	ICD9:188.5|DOID:11809|SCTID:188244007	mondo.json	malignant neoplasm of urinary bladder neck|malignant neoplasm of neck of urinary bladder|malignant tumor of bladder neck|neck of urinary bladder cancer|cancer of neck of urinary bladder|malignant neck of urinary bladder neoplasm	http://purl.obolibrary.org/obo/MONDO_0001372	http://identifiers.org/snomedct/188244007|DOID:11809	
HGNC:26784	biolink:NamedThing	MTRFR			mondo.json		http://identifiers.org/hgnc/26784		
MONDO:0001371	biolink:Disease	protein-energy malnutrition	A nutritional deficit that is caused by inadequate protein or calorie intake.	MESH:D011502|NCIT:C34952|ICD9:269.8|SCTID:238107002|ICD9:263.8|ICD9:263.9|DOID:11801	mondo.json	Protein energy malnutrition	http://purl.obolibrary.org/obo/MONDO_0001371	http://identifiers.org/mesh/D011502|DOID:11801|http://identifiers.org/snomedct/238107002|NCIT:C34952	
MONDO:0013345	biolink:Disease	d-2-hydroxyglutaric aciduria 2	Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene.	OMIM:613657|UMLS:C3150909|DOID:0111352	mondo.json	D-2-hydroxyglutaric aciduria type 2|IDH2 D-2-hydroxyglutaric aciduria|D-2-hydroxyglutaric aciduria 2|d-2-hydroxyglutaric aciduria 2|D2HGA2|D-2-hydroxyglutaric aciduria caused by mutation in IDH2	http://purl.obolibrary.org/obo/MONDO_0013345	DOID:0111352|UMLS:C3150909|https://omim.org/entry/613657	
MONDO:0013346	biolink:Disease	obsolete brain calcification, Rajab type			mondo.json		http://purl.obolibrary.org/obo/MONDO_0013346		
MONDO:0013343	biolink:Disease	C1Q deficiency	C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor.	UMLS:C3150902|OMIM:613652|NCIT:C119990|GARD:0012958	mondo.json	C1Q deficiency|C1QD|C1q deficiency	http://purl.obolibrary.org/obo/MONDO_0013343	UMLS:C3150902|https://omim.org/entry/613652|NCIT:C119990	gard_rare
MONDO:0013344	biolink:Disease	migraine, with or without aura, susceptibility to, 13	Any migraine disorder in which the cause of the disease is a mutation in the KCNK18 gene.	OMIM:613656	mondo.json	KCNK18 migraine disorder|MGR13|migraine with or without aura, susceptibility to, 13|susceptibility to migraine with or without aura 13|migraine, with or without aura, susceptibility to, type 13|migraine, with or without aura, susceptibility to, 13|migraine disorder caused by mutation in KCNK18	http://purl.obolibrary.org/obo/MONDO_0013344	https://omim.org/entry/613656	predisposition
MONDO:0013349	biolink:Disease	ALG11-congenital disorder of glycosylation	A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).	DOID:0080567|UMLS:C3150913|SCTID:733085004|Orphanet:280071|OMIM:613661|GARD:0012396	mondo.json	ALG11-CDG|congenital disorder of glycosylation type 1p|CDG-Ip|carbohydrate deficient glycoprotein syndrome type Ip|ALG11-congenital disorder of glycosylation|ALG11-CDG (CDG-Ip)|CDG syndrome type Ip|congenital disorder of glycosylation type Ip|CDG1P|congenital disorder of glycosylation, type Ip	http://purl.obolibrary.org/obo/MONDO_0013349	DOID:0080567|UMLS:C3150913|Orphanet:280071|http://identifiers.org/snomedct/733085004|https://omim.org/entry/613661	ordo_disease
MONDO:0013347	biolink:Disease	obsolete gastric cancer			mondo.json		http://purl.obolibrary.org/obo/MONDO_0013347		
MONDO:0013348	biolink:Disease	cone-rod dystrophy 15	Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene.	DOID:0111021|OMIM:613660|UMLS:C3150912	mondo.json	CDHR1 cone-rod dystrophy|cone-rod dystrophy type 15|cone-rod dystrophy caused by mutation in CDHR1|CORD15|retinitis pigmentosa 65|cone-rod dystrophy 15	http://purl.obolibrary.org/obo/MONDO_0013348	DOID:0111021|UMLS:C3150912|https://omim.org/entry/613660	
MONDO:0013341	biolink:Disease	methylmalonic acidemia due to transcobalamin receptor defect	Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.	DOID:0060741|UMLS:C3150900|Orphanet:280183|OMIM:613646	mondo.json	methylmalonic aciduria due to transcobalamin receptor defect|methylmalonic acidemia, TCb1R type|methylmalonic acidemia, TCbIR type|CD320 methylmalonic acidemia|methylmalonic acidemia, Tcblr type|methylmalonic aciduria, transient, due to transcobalamin receptor defect|methylmalonic acidemia caused by mutation in CD320	http://purl.obolibrary.org/obo/MONDO_0013341	UMLS:C3150900|Orphanet:280183|DOID:0060741|https://omim.org/entry/613646	ordo_biological_anomaly
MONDO:0013342	biolink:Disease	hereditary spastic paraplegia 48	Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported.	DOID:0110800|SCTID:763367009|UMLS:C3150901|OMIM:613647|Orphanet:306511	mondo.json	autosomal recessive spastic paraplegia type 48|spastic paraplegia 48, autosomal recessive|SPG48|hereditary spastic paraplegia type 48|autosomal recessive spastic paraplegia 48|AP5Z1 hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in AP5Z1	http://purl.obolibrary.org/obo/MONDO_0013342	UMLS:C3150901|DOID:0110800|https://omim.org/entry/613647|http://identifiers.org/snomedct/763367009|Orphanet:306511	ordo_disease
CHEBI:76413	biolink:ChemicalSubstance	greenhouse gas	A gas in an atmosphere that absorbs and emits radiation within the thermal infrared range, so contributing to the 'greenhouse effect'.		mondo.json	greenhouse gases	http://purl.obolibrary.org/obo/CHEBI_76413		
MONDO:0013340	biolink:Disease	Parkinson disease 5, autosomal dominant, susceptibility to	Any young-onset Parkinson disease in which the cause of the disease is a mutation in the UCHL1 gene.	OMIM:613643|UMLS:C3150899	mondo.json	susceptibility to autosomal dominant Parkinson disease 5|UCHL1 young-onset Parkinson disease|Parkinson disease 5, autosomal dominant, susceptibility to|Parkinson disease 5, susceptibility to|young-onset Parkinson disease caused by mutation in UCHL1|PARK5	http://purl.obolibrary.org/obo/MONDO_0013340	UMLS:C3150899|https://omim.org/entry/613643	predisposition
MONDO:0001345	biolink:Disease	antidepressant type abuse	A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences.	DOID:11718|ICD9:305.8	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001345	DOID:11718	
MONDO:0001344	biolink:Disease	obsolete neonatal diabetes mellitus			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001344		
MONDO:0001343	biolink:Disease	impaired renal function disease	Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction.	DOID:11705|ICD10CM:N25|ICD9:588.89|ICD9:588.8|SCTID:197663003|ICD9:588.9	mondo.json	disease of kidney|kidney disease	http://purl.obolibrary.org/obo/MONDO_0001343	http://identifiers.org/snomedct/197663003|http://purl.bioontology.org/ontology/ICD10CM/N25	
MONDO:0001342	biolink:Disease	dysgammaglobulinemia	An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins.	DOID:11702|SCTID:123782009|MESH:D004406|HP:0002961|UMLS:C0013374	mondo.json	dysgammaglobulinemia (finding)|dysgammaglobulinemia|dysgammaglobulinemia (disease)	http://purl.obolibrary.org/obo/MONDO_0001342	http://identifiers.org/snomedct/123782009|UMLS:C0013374|DOID:11702|http://identifiers.org/mesh/D004406	
MONDO:0001349	biolink:Disease	odontoclasia		SCTID:196305005|DOID:11736|ICD9:521.05|UMLS:C0341004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001349	http://identifiers.org/snomedct/196305005|UMLS:C0341004|DOID:11736	
MONDO:0001348	biolink:Disease	obsolete Lyme disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001348		
MONDO:0001347	biolink:Disease	facioscapulohumeral muscular dystrophy	An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well.	SCTID:399091004|MESH:D020391|OMIMPS:158900|DOID:11727|MedDRA:10064087|Orphanet:269|NCIT:C84704	mondo.json	facioscapulohumeral dystrophy|FSHD|facioscapulohumeral myopathy|facioscapulohumeral muscular dystrophy|Landouzy-Dejerine muscular dystrophy|muscular dystrophy, Landouzy-Dejerine|Landouzy Dejerine muscular dystrophy|Landouzy-Dejerine myopathy|FSH dystrophy	http://purl.obolibrary.org/obo/MONDO_0001347	Orphanet:269|http://identifiers.org/snomedct/399091004|https://omim.org/phenotypicSeries/PS158900|DOID:11727|NCIT:C84704|http://identifiers.org/mesh/D020391	ordo_disease
MONDO:0001346	biolink:Disease	obsolete distal muscular dystrophy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001346		
MONDO:0013329	biolink:Disease	familial clubfoot due to 17q23.1q23.2 microduplication	17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.	OMIM:613618|Orphanet:238578|UMLS:C3150880	mondo.json	hereditary clubfoot due to 17q23.1-q23.2 microduplication|chromosome 17q23.1-q23.2 DUPLICATION syndrome	http://purl.obolibrary.org/obo/MONDO_0013329	https://omim.org/entry/613618|Orphanet:238578|UMLS:C3150880	ordo_etiological_subtype
MONDO:0001341	biolink:Disease	selective IgA deficiency disease	A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system's ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders.	MESH:D017098|DOID:0060025|EFO:1001929|DOID:11701|Orphanet:69127|SCTID:29260007|UMLS:C4049006|UMLS:C0162538|NCIT:C26964	mondo.json	IgA deficiency|deficiency, IgA|immunoglobulin alpha deficiency|selective immunoglobulin A deficiency|IgA deficiencies|gamma-A-globulin deficiency|selective IgA immunodeficiency|immunoglobulin A deficiency|SIgAD|deficiencies, IgA	http://purl.obolibrary.org/obo/MONDO_0001341	http://identifiers.org/snomedct/29260007|Orphanet:69127|UMLS:C0162538|DOID:0060025|UMLS:C4049006|http://identifiers.org/mesh/D017098|DOID:11701|NCIT:C26964	
MONDO:0001340	biolink:Disease	heart cancer	A malignant neoplasm involving the heart	DOID:117|NCIT:C3548|MESH:D006338|ICD9:164.1	mondo.json	malignant tumor of the heart|malignant tumor of heart|Cardiac neoplasm, malignant|tumour of heart|malignant Cardiac neoplasm|Cardiac tumor|malignant neoplasm of the heart|malignant Cardiac tumor|malignant heart neoplasm|malignant heart tumor|cancer of heart|malignant neoplasm of heart|heart cancer	http://purl.obolibrary.org/obo/MONDO_0001340	DOID:117|http://identifiers.org/mesh/D006338|NCIT:C3548	
MONDO:0015997	biolink:Disease	ectopia lentis-chorioretinal dystrophy-myopia syndrome	Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterised by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive.	SCTID:722437006|Orphanet:1884|GARD:0003999|MESH:C536124	mondo.json	noble-Bass-Sherman syndrome|ectopia lentis chorioretinal dystrophy myopia|noble Bass Sherman syndrome	http://purl.obolibrary.org/obo/MONDO_0015997	http://identifiers.org/mesh/C536124|Orphanet:1884|http://identifiers.org/snomedct/722437006	ordo_disease
MONDO:0013334	biolink:Disease	cocoon syndrome	Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported.	Orphanet:465824|UMLS:C3150891|OMIM:613630|DOID:0060647	mondo.json	fetal encasement syndrome|cocoon syndrome	http://purl.obolibrary.org/obo/MONDO_0013334	Orphanet:465824|UMLS:C3150891|DOID:0060647|https://omim.org/entry/613630	ordo_malformation_syndrome
MONDO:0013335	biolink:Disease	tuberculin skin test reactivity, absence of		OMIM:613636	mondo.json	Tst1|tst reactivity, absence of|tuberculin skin test reactivity, absence of	http://purl.obolibrary.org/obo/MONDO_0013335	https://omim.org/entry/613636	
MONDO:0015996	biolink:Disease	obsolete systemic capillary leak syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015996		
MONDO:0015995	biolink:Disease	melorheostosis with osteopoikilosis	Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.	UMLS:CN200621|GARD:0003800|MESH:C563593|UMLS:C2931505|GARD:0003690|Orphanet:1879	mondo.json	dystrophy osseous sclerosing mixed|MSBD syndrome|mixed sclerosing bone dystrophy	http://purl.obolibrary.org/obo/MONDO_0015995	UMLS:CN200621|Orphanet:1879|http://identifiers.org/mesh/C563593|UMLS:C2931505	gard_rare|ordo_malformation_syndrome
MONDO:0013332	biolink:Disease	brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability		SCTID:719162001|UMLS:C3150890|OMIM:613627	mondo.json	Tsukahara syndrome|brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation|brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0013332	UMLS:C3150890|https://omim.org/entry/613627|http://identifiers.org/snomedct/719162001	
MONDO:0013333	biolink:Disease	odontoid hypoplasia	An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations.	NCIT:C86969|OMIM:613628	mondo.json	odontoid hypoplasia	http://purl.obolibrary.org/obo/MONDO_0013333	NCIT:C86969|https://omim.org/entry/613628	
MONDO:0015994	biolink:Disease	muscular dystrophy-white matter spongiosis syndrome		GARD:0003854|UMLS:CN200619|Orphanet:1877	mondo.json	muscular dystrophy white matter spongiosis|Atrophie blanche	http://purl.obolibrary.org/obo/MONDO_0015994	Orphanet:1877|UMLS:CN200619	ordo_disease|gard_rare
MONDO:0013338	biolink:Disease	Charcot-Marie-Tooth disease recessive intermediate B	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.	Orphanet:254334|GARD:0012454|DOID:0110204|OMIM:613641|UMLS:C3150897	mondo.json	Charcot-Marie-Tooth disease, recessive intermediate B|Charcot-Marie-Tooth neuropathy, recessive Intermediate B|RI-CMT type B|CMTRIB|Charcot-Marie-Tooth disease recessive intermediate type B|Charcot-Marie-Tooth disease, recessive Intermediate type B|RI-CMTB|autosomal recessive intermediate Charcot-Marie-Tooth disease type B|Charcot-Marie-Tooth disease caused by mutation in KARS|Charcot-Marie-Tooth neuropathy recessive intermediate B|KARS Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, recessive intermediate, B	http://purl.obolibrary.org/obo/MONDO_0013338	Orphanet:254334|DOID:0110204|UMLS:C3150897|https://omim.org/entry/613641	ordo_disease
MONDO:0013339	biolink:Disease	dilated cardiomyopathy 1GG	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SDHA gene.	OMIM:613642|DOID:0110435|UMLS:C3150898	mondo.json	cardiomyopathy, dilated, type 1Gg|SDHA familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1GG|familial isolated dilated cardiomyopathy caused by mutation in SDHA|CMD1GG|dilated cardiomyopathy type 1GG	http://purl.obolibrary.org/obo/MONDO_0013339	UMLS:C3150898|DOID:0110435|https://omim.org/entry/613642	
MONDO:0015999	biolink:Disease	primary pigmented nodular adrenocortical disease	A form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).	UMLS:CN200645|NCIT:C131196|OMIMPS:610489|Orphanet:189439|GARD:0010906|SCTID:719274008|UMLS:C4304832|DOID:0060280	mondo.json	pigmented nodular adrenocortical disease, primary|primary pigmented nodular adrenal dysplasia|pigmented nodular adrenocortical disease|PPNAD	http://purl.obolibrary.org/obo/MONDO_0015999	https://omim.org/phenotypicSeries/PS610489|Orphanet:189439|http://identifiers.org/snomedct/719274008|UMLS:CN200645|UMLS:C4304832|NCIT:C131196|DOID:0060280	gard_rare|ordo_disease
MONDO:0013336	biolink:Disease	chromosome 19p13.13 deletion syndrome	19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation).	DOID:0060426|UMLS:C3150894|OMIM:613638|UMLS:CN204595|SCTID:764440006|Orphanet:357001	mondo.json	monosomy 19p13.13|Del(19)(p13.13)|chromosome 19p13.13 deletion syndrome|chromosome 19P13.13 Duplication syndrome|19p13.13 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013336	Orphanet:357001|UMLS:C3150894|DOID:0060426|http://identifiers.org/snomedct/764440006|https://omim.org/entry/613638|UMLS:CN204595	ordo_malformation_syndrome
MONDO:0013337	biolink:Disease	neuropathy, hereditary sensory and autonomic, type 1C	A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.	OMIM:613640|DOID:0070157|UMLS:C3150896	mondo.json	HSAN 1C|hereditary sensory and autonomic neuropathy type 1C|neuropathy, hereditary sensory and autonomic, type IC|hereditary sensory and autonomic neuropathy type IC|HSAN1C|HSN 1C|neuropathy, hereditary sensory, type 1C	http://purl.obolibrary.org/obo/MONDO_0013337	UMLS:C3150896|DOID:0070157|https://omim.org/entry/613640	
MONDO:0015998	biolink:Disease	isolated ectopia lentis	Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.	Orphanet:1885|MedDRA:10014145|PMID:20141359|DOID:0111148|GARD:0012251|SCTID:74969002|MESH:C536184|NCIT:C34566	mondo.json	ectopia lentis syndrome|nonsyndromic lens position anomaly|familial ectopia lentis|congenital ectopic lens|IEL|isolated lens position anomaly	http://purl.obolibrary.org/obo/MONDO_0015998	http://identifiers.org/mesh/C536184|NCIT:C34566|DOID:0111148|Orphanet:1885|http://identifiers.org/snomedct/74969002	ordo_malformation_syndrome|gard_rare
ENVO:01000295	biolink:NamedThing	marine layer	A layer that is part of a marine water body.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000295		
MONDO:0001339	biolink:Disease	portal vein thrombosis	The formation of a blood clot (thrombus) in the portal vein.	DOID:11695|UMLS:C0155773|ICD10CM:I81|NCIT:C78565|ICD9:452|SCTID:17920008	mondo.json	thrombotic disease of portal vein|portal vein thrombotic disease	http://purl.obolibrary.org/obo/MONDO_0001339	DOID:11695|NCIT:C78565|http://identifiers.org/snomedct/17920008|http://purl.bioontology.org/ontology/ICD10CM/I81|UMLS:C0155773	
OBO:ECTO_9000021	biolink:NamedThing	exposure to alkali metal salt	An exposure to alkali metal salt.		mondo.json	exposure to alkali metal salt	http://purl.obolibrary.org/obo/ECTO_9000021		
MONDO:0015993	biolink:Disease	cone-rod dystrophy	Inherited retinal dystrophies that belong to the group of pigmentary retinopathies.	OMIMPS:120970|OMIM:304020|ICD10CM:H35.5|Orphanet:1872|MESH:D000071700|GARD:0010790|DOID:0050572|OMIM:300476	mondo.json	cone rod dystrophy|cone-rod retinal dystrophy|CRD	http://purl.obolibrary.org/obo/MONDO_0015993	Orphanet:1872|DOID:0050572|http://identifiers.org/mesh/D000071700|https://omim.org/phenotypicSeries/PS120970	ordo_disease
MONDO:0013330	biolink:Disease	agenesis of the corpus callosum and congenital lymphedema		OMIM:613623|UMLS:C3150887	mondo.json	agenesis of the corpus callosum and congenital lymphedema	http://purl.obolibrary.org/obo/MONDO_0013330	UMLS:C3150887|https://omim.org/entry/613623	
PO:0009046	biolink:NamedThing	flower	A determinate reproductive shoot system (PO:0025082) that has as part at least one carpel (PO:0009030) or at least one stamen (PO:0009029) and does not contain any other determinate shoot system (PO:0009006) as a part.	PO_GIT:160|PO_GIT:259	mondo.json	hermaphrodite flower (narrow)|double flower (narrow)|flor (Spanish, exact)|basal flower (narrow)|perfect flower (narrow)|monoclinous flower (narrow)|Asteraceae floret (narrow)|floret (related)|花 (Japanese, exact)	http://purl.obolibrary.org/obo/PO_0009046		TraitNet|reference|Angiosperm
MONDO:0013331	biolink:Disease	factor 5 and Factor VIII, combined deficiency of, 2	Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene.	OMIM:613625|UMLS:C3150889	mondo.json	combined deficiency of factor V and factor VIII caused by mutation in MCFD2|factor 5 and Factor VIII, combined deficiency of, type 2|F5F8D2|factor 5 and Factor VIII, combined deficiency of, 2|factor V and factor VIII, combined deficiency of|MCFD2 combined deficiency of factor V and factor VIII|factor V and factor VIII, combined deficiency of, 2	http://purl.obolibrary.org/obo/MONDO_0013331	UMLS:C3150889|https://omim.org/entry/613625	
MONDO:0015992	biolink:Disease	obsolete progressive cone dystrophy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015992		
MONDO:0015991	biolink:Disease	citrullinemia	Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency).	Orphanet:187|MESH:D020159|NCIT:C84639|ICD10CM:E72.23|SCTID:124711003|UMLS:C0175683|DOID:9273	mondo.json	deficiency of citrulline-aspartate ligase|ass deficiency	http://purl.obolibrary.org/obo/MONDO_0015991	UMLS:C0175683|Orphanet:187|http://purl.bioontology.org/ontology/ICD10CM/E72.23|DOID:9273|http://identifiers.org/mesh/D020159|NCIT:C84639|http://identifiers.org/snomedct/124711003	ordo_group_of_disorders|disease_grouping
OBO:ECTO_9000026	biolink:NamedThing	exposure to alcohol	An exposure to alcohol.		mondo.json	exposure to alcohol	http://purl.obolibrary.org/obo/ECTO_9000026		
ENVO:01000293	biolink:NamedThing	ice mass	A mass of water ice.		mondo.json	accumulation of ice|ice accumulation	http://purl.obolibrary.org/obo/ENVO_01000293		
MONDO:0015990	biolink:Disease	focal, segmental or multifocal dystonia	A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.	ICD10CM:G24.5|Orphanet:1866	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015990	Orphanet:1866	ordo_group_of_disorders|disease_grouping
MONDO:0001356	biolink:Disease	iron deficiency anemia	Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss.	UMLS:C0162316|SCTID:87522002|DOID:11758|MESH:D018798|ICD9:280.8|ICD9:280.9|NCIT:C84484	mondo.json	iron-deficiency anemia	http://purl.obolibrary.org/obo/MONDO_0001356	UMLS:C0162316|http://identifiers.org/snomedct/87522002|http://identifiers.org/mesh/D018798|DOID:11758|NCIT:C84484	
CHR:9606-chr11q22.2-q22.3	biolink:NamedThing	11q22.2-q22.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr11q22.2-q22.3		
MONDO:0001355	biolink:Disease	ocular siderosis	A hemosiderosis that involves the camera-type eye.	DOID:11754|UMLS:C0271001|SCTID:25277000|ICD9:360.23	mondo.json	camera-type eye hemosiderosis|hemosiderosis of camera-type eye|siderosis of eye|siderosis bulbi|siderosis of globe	http://purl.obolibrary.org/obo/MONDO_0001355	http://identifiers.org/snomedct/25277000|DOID:11754|UMLS:C0271001	
UBERON:0010190	biolink:AnatomicalEntity	pair of dorsal aortae			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010190		
MONDO:0025303	biolink:Disease	anaplasmosis	An disease or disorder caused by infection with Anaplasma.	SCTID:13906002	mondo.json	anaplasma disease or disorder|anaplasma infectious disease|anaplasma caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0025303	http://identifiers.org/snomedct/13906002	
MONDO:0001354	biolink:Disease	obsolete acute endophthalmitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001354		
MONDO:0001353	biolink:Disease	Bordetella parapertussis infectious disease	Any disease caused by infection with by Bordetella parapertussis. The symptoms are similar but less severe than Bordetella pertussis whooping cough.	SCTID:77116006|ICD9:033.1|DOID:11750|ICD10CM:A37.1|UMLS:C0275742	mondo.json	Bordetella parapertussis caused disease or disorder|Bordetella parapertussis infection|infection caused by Bordetella parapertussis|infection due to Bordetella parapertussis|Bordetella parapertussis disease or disorder|Bordetella parapertussis whooping cough	http://purl.obolibrary.org/obo/MONDO_0001353	http://purl.bioontology.org/ontology/ICD10CM/A37.1|UMLS:C0275742|http://identifiers.org/snomedct/77116006|DOID:11750	
MONDO:0001359	biolink:Disease	obsolete Kohler disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001359		
MONDO:0001358	biolink:Disease	bronchial disorder	A disease involving the bronchus.	EFO:1002018|DOID:1176|SCTID:41427001|UMLS:C0006261|NCIT:C34439|ICD9:519.19|MESH:D001982	mondo.json	disease of bronchus|disease or disorder of bronchus|bronchus disease|bronchospasm|bronchial disorder|bronchus disease or disorder|disorder of bronchus	http://purl.obolibrary.org/obo/MONDO_0001358	NCIT:C34439|http://identifiers.org/mesh/D001982|UMLS:C0006261|DOID:1176|http://identifiers.org/snomedct/41427001	
UBERON:0010191	biolink:AnatomicalEntity	aortic system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010191		
MONDO:0001357	biolink:Disease	hypochromic anemia	Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency.	UMLS:C0002884|NCIT:C34380|DOID:11759|HP:0001931|SCTID:44452003	mondo.json	hypochromic anemia (disease)|anemia hypochromic|hypochromic anemia	http://purl.obolibrary.org/obo/MONDO_0001357	UMLS:C0002884|NCIT:C34380|http://identifiers.org/snomedct/44452003|DOID:11759	
UBERON:0010192	biolink:AnatomicalEntity	genital artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010192		
MONDO:0013318	biolink:Disease	early repolarization associated with ventricular fibrillation		UMLS:C3150852|OMIM:613601	mondo.json	early repolarization associated with ventricular fibrillation|early repolarization syndrome	http://purl.obolibrary.org/obo/MONDO_0013318	https://omim.org/entry/613601|UMLS:C3150852	
MONDO:0013319	biolink:Disease	chromosome 4Q32.1-q32.2 triplication syndrome		UMLS:C3150857|OMIM:613603	mondo.json	chromosome 4Q32.1-q32.2 triplication syndrome	http://purl.obolibrary.org/obo/MONDO_0013319	https://omim.org/entry/613603|UMLS:C3150857	
MONDO:0001352	biolink:Disease	round ligament malignant neoplasm	A malignant neoplasm involving the round ligament of uterus.	SCTID:188204000|DOID:11748|UMLS:C0346867|ICD9:183.5	mondo.json	cancer of round ligament of uterus|round ligament of uterus cancer|malignant neoplasm of round ligament of uterus|malignant round ligament of uterus neoplasm|malignant neoplasm of round ligament	http://purl.obolibrary.org/obo/MONDO_0001352	http://identifiers.org/snomedct/188204000|DOID:11748|UMLS:C0346867	
MONDO:0001351	biolink:Disease	uterine adnexa cancer		DOID:11747|ICD9:183|ICD9:183.9	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001351	DOID:11747	
UBERON:0010199	biolink:AnatomicalEntity	bona-fide anatomical boundary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010199		
MONDO:0001350	biolink:Disease	parametrium malignant neoplasm	A malignant neoplasm involving the parametrium.	SCTID:448674007|DOID:11746|ICD9:183.4|UMLS:C0153581	mondo.json	cancer of parametrium|parametrium cancer|malignant parametrium neoplasm|malignant neoplasm of parametrium	http://purl.obolibrary.org/obo/MONDO_0001350	DOID:11746|http://identifiers.org/snomedct/448674007|UMLS:C0153581	
MONDO:0013323	biolink:Disease	cranioectodermal dysplasia 2	Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene.	OMIM:613610|UMLS:C3150874	mondo.json	cranioectodermal dysplasia caused by mutation in WDR35|cranioectodermal dysplasia 2|CRANIOECTODERMAL dysplasia 2|WDR35 cranioectodermal dysplasia|Cranioectodermal dysplasia type 2|CED2	http://purl.obolibrary.org/obo/MONDO_0013323	UMLS:C3150874|https://omim.org/entry/613610	
MONDO:0015986	biolink:Disease	bilateral renal agenesis	Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.	DOID:0080200|Orphanet:1848|NCIT:C101219|ICD10CM:Q60.1	mondo.json	bilateral renal aplasia|renal agenesis, bilateral	http://purl.obolibrary.org/obo/MONDO_0015986	DOID:0080200|Orphanet:1848|NCIT:C101219|http://purl.bioontology.org/ontology/ICD10CM/Q60.1	ordo_clinical_subtype
MONDO:0013324	biolink:Disease	lymphedema-posterior choanal atresia syndrome		UMLS:C3150875|Orphanet:99141|OMIM:613611|ICD10CM:Q82.0	mondo.json	choanal atresia and lymphedema|CATLPH	http://purl.obolibrary.org/obo/MONDO_0013324	Orphanet:99141|UMLS:C3150875|https://omim.org/entry/613611	ordo_malformation_syndrome
MONDO:0015985	biolink:Disease	bone dysplasia, Azouz type	Bone dysplasia Azouz type is a form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet.	Orphanet:1844|UMLS:C4303993|GARD:0000920|SCTID:720566004	mondo.json	bone dysplasia Azouz type	http://purl.obolibrary.org/obo/MONDO_0015985	Orphanet:1844|UMLS:C4303993|http://identifiers.org/snomedct/720566004	gard_rare|ordo_malformation_syndrome
CHEBI:64459	biolink:ChemicalSubstance	biaryl	An organic aromatic compound whose structure contains two aromatic rings or ring systems, joined to each other by a single bond.		mondo.json	biaryls	http://purl.obolibrary.org/obo/CHEBI_64459		
MONDO:0015984	biolink:Disease	obsolete rare genetic immune disease	OBSOLETE. Rare genetic immune system disease.	Orphanet:183770|UMLS:CN200582	mondo.json	rare genetic immune system disease	http://purl.obolibrary.org/obo/MONDO_0015984	Orphanet:183770|UMLS:CN200582	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0013321	biolink:Disease	forsythe-wakeling syndrome		UMLS:C3150859|OMIM:613606	mondo.json	FWS|microcephaly and Growth retardation with childhood-onset nephrotic syndrome and thrombocytopenia|FORSYTHE-WAKELING syndrome	http://purl.obolibrary.org/obo/MONDO_0013321	UMLS:C3150859|https://omim.org/entry/613606	
MONDO:0013322	biolink:Disease	epilepsy, familial adult myoclonic, 3		UMLS:C3150860|MESH:C567098|OMIM:613608|DOID:0111695	mondo.json	FAME3|cortical myoclonic tremor with epilepsy, familial, 3|epilepsy, familial ADULT myoclonic, 3	http://purl.obolibrary.org/obo/MONDO_0013322	http://identifiers.org/mesh/C567098|DOID:0111695|UMLS:C3150860|https://omim.org/entry/613608	
MONDO:0015983	biolink:Disease	obsolete rare genetic syndromic intellectual disability	OBSOLETE. Rare genetic syndromic intellectual disability.	UMLS:CN226822|Orphanet:183763	mondo.json	rare genetic syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0015983	Orphanet:183763|UMLS:CN226822	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0013327	biolink:Disease	primary hyperoxaluria type 3	Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis.	Orphanet:93600|NCIT:C123214|DOID:0111672|OMIM:613616|SCTID:734990008|UMLS:C3150878|GARD:0010738	mondo.json	HP3|HOGA1 primary hyperoxaluria|primary hyperoxaluria type III|PH III|primary hyperoxaluria caused by mutation in HOGA1|hyperoxaluria, primary, type III|hyperoxaluria, primary, type 3	http://purl.obolibrary.org/obo/MONDO_0013327	https://omim.org/entry/613616|Orphanet:93600|NCIT:C123214|http://identifiers.org/snomedct/734990008|DOID:0111672|UMLS:C3150878	gard_rare|ordo_clinical_subtype
MONDO:0013328	biolink:Disease	retinitis pigmentosa 58	Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene.	DOID:0110362|UMLS:C3150879|ICD10CM:H35.5|OMIM:613617	mondo.json	retinitis pigmentosa caused by mutation in ZNF513|RP58|retinitis pigmentosa 58|ZNF513 retinitis pigmentosa|retinitis pigmentosa type 58	http://purl.obolibrary.org/obo/MONDO_0013328	https://omim.org/entry/613617|UMLS:C3150879|DOID:0110362	
MONDO:0015989	biolink:Disease	obsolete congenital valvular dysplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015989		
MONDO:0015988	biolink:Disease	multicystic dysplastic kidney	Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional.	MESH:D021782|SCTID:204962002|ICD9:753.19|Orphanet:1851|NCIT:C123031|UMLS:C3714581	mondo.json	multicystic renal dysplasia|MCDK	http://purl.obolibrary.org/obo/MONDO_0015988	UMLS:C3714581|Orphanet:1851|http://identifiers.org/snomedct/204962002|NCIT:C123031|http://identifiers.org/mesh/D021782	ordo_morphological_anomaly
MONDO:0013325	biolink:Disease	COG5-congenital disorder of glycosylation	COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.	UMLS:C3150876|GARD:0012348|OMIM:613612|SCTID:721100009|DOID:0070261|Orphanet:263487|GARD:0001173	mondo.json	CDG III|congenital disorder of glycosylation type III|COG5-CDG|CDG syndrome type III|congenital disorder of glycosylation, type III|congenital disorder of glycosylation type 2i|CDG syndrome type 3|COG5-congenital disorder of glycosylation|carbohydrate deficient glycoprotein syndrome type III|CDG-III|CDG2I|COG5-CDG (CDG-III)	http://purl.obolibrary.org/obo/MONDO_0013325	DOID:0070261|http://identifiers.org/snomedct/721100009|UMLS:C3150876|Orphanet:263487|https://omim.org/entry/613612	gard_rare|ordo_disease
MONDO:0013326	biolink:Disease	Senior-Loken syndrome 7	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene.	UMLS:C3150877|OMIM:613615	mondo.json	SENIOR-Loken syndrome 7|Senior-Loken syndrome caused by mutation in SDCCAG8|Senior-Loken syndrome 7|Senior-Loken syndrome type 7|SLSN7|SDCCAG8 Senior-Loken syndrome	http://purl.obolibrary.org/obo/MONDO_0013326	UMLS:C3150877|https://omim.org/entry/613615	
MONDO:0015987	biolink:Disease	scimitar syndrome	Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt.	UMLS:C0036400|MESH:D012587|NCIT:C85056|Orphanet:185|SCTID:39905002|ICD9:747.49|MedDRA:10051951	mondo.json	Epibronchial right pulmonary vein syndrome|Halasz syndrome|congenital pulmonary venolobar syndrome|hypogenetic lung syndrome	http://purl.obolibrary.org/obo/MONDO_0015987	Orphanet:185|http://identifiers.org/mesh/D012587|UMLS:C0036400|NCIT:C85056|http://identifiers.org/snomedct/39905002	ordo_malformation_syndrome
MONDO:0040998	biolink:Disease	Pasteurella multocida infectious disease		GARD:0009774|SCTID:197718007|UMLS:C1260911	mondo.json	infection caused by Pasteurella multocida|infection by Pasteurella multocida	http://purl.obolibrary.org/obo/MONDO_0040998	UMLS:C1260911|http://identifiers.org/snomedct/197718007	
MONDO:0015982	biolink:Disease	obsolete rare genetic intellectual disability	OBSOLETE. Rare genetic intellectual disability.	Orphanet:183757|UMLS:CN226821	mondo.json	rare genetic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0015982	UMLS:CN226821|Orphanet:183757	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
ENVO:01000280	biolink:NamedThing	ecozone	Ecozones delineate large areas of a planetary surface within which organisms have been evolving in relative isolation over long periods of time, separated from one another by geographic features, such as oceans, broad deserts, or high mountain ranges, that constitute barriers to migration.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000280		
MONDO:0013320	biolink:Disease	chromosome 16p12.2-p11.2 deletion syndrome	16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	SCTID:719576009|UMLS:C4304597|DECIPHER:70|DOID:0060400|DECIPHER:68|Orphanet:261211|OMIM:613604|UMLS:C3150858	mondo.json	chromosome 16p12.2-p11.2 deletion syndrome, isolated cases|chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-MB|Del(16)(p11.2p12.2)|16p11.2-p12.2 microdeletion syndrome|monosomy 16p11.2-p12.2|16p11.2p12.2 microdeletion syndrome|monosomy 16p11.2p12.2	http://purl.obolibrary.org/obo/MONDO_0013320	http://identifiers.org/snomedct/719576009|UMLS:C4304597|UMLS:C3150858|DOID:0060400|https://omim.org/entry/613604|Orphanet:261211	ordo_malformation_syndrome
MONDO:0015981	biolink:Disease	obsolete inherited gynecological tumor		UMLS:CN200581|Orphanet:183734	mondo.json	rare genetic female reproductive system tumor|genetic gynecological tumor	http://purl.obolibrary.org/obo/MONDO_0015981	UMLS:CN200581|Orphanet:183734	disease_grouping|ordo_group_of_disorders
ENVO:01000281	biolink:NamedThing	layer	A layer is a quantity of some material which is spatially continuous, has comparable thickness, and usually covers some surface.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000281		
MONDO:0015980	biolink:Disease	obsolete rare genetic gynecological and obstetrical diseases		Orphanet:183731|UMLS:CN200580	mondo.json	rare genetic female reproductive system disease	http://purl.obolibrary.org/obo/MONDO_0015980	UMLS:CN200580|Orphanet:183731	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
ENVO:01000283	biolink:NamedThing	lake layer	A layer which is part of a lake.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000283		
MONDO:0025377	biolink:Disease	African swine fever	A sometimes fatal asfivirus infection of pigs, characterized by fever, cough, diarrhea, hemorrhagic lymph nodes, and edema of the gallbladder. It is transmitted between domestic swine by direct contact, ingestion of infected meat, or fomites, or mechanically by biting flies or soft ticks (genus Ornithodoros).	MESH:D000357|UMLS:C0001752	mondo.json	wart-Hog diseases|wart Hog disease|swine fever, African|wart-Hog disease	http://purl.obolibrary.org/obo/MONDO_0025377	UMLS:C0001752|http://identifiers.org/mesh/D000357	
NCBITaxon:11029	biolink:OrganismalEntity	Ross River virus		GC_ID:1	mondo.json	RRV	http://purl.obolibrary.org/obo/NCBITaxon_11029		
MONDO:0025370	biolink:Disease	obsolete urogenital neoplasm	OBSOLETE. Tumors or cancer of the urogenital system in either the male or the female.	MESH:D014565|EFO:0003863	mondo.json	tumor of genitourinary system|neoplasms, genitourinary|neoplasm, urogenital|genitourinary neoplasms|neoplasms, genito-urinary|neoplasm of genitourinary system|genito-urinary neoplasm|genitourinary system tumor|genito-urinary neoplasms|urogenital neoplasm|neoplasm, genito-urinary|neoplasm, genitourinary|genitourinary neoplasm|genitourinary system neoplasm|neoplasms, urogenital	http://purl.obolibrary.org/obo/MONDO_0025370	http://identifiers.org/mesh/D014565	
MONDO:0025371	biolink:Disease	Parvoviridae infectious disease	Virus infections caused by the parvoviridae.	MESH:D010322|SCTID:83223005|ICD9:078.89	mondo.json	infections, Parvovirus|disease due to Parvoviridae|Parvoviridae infection|Parvovirus infection|disease caused by Parvoviridae|Parvoviridae caused disease or disorder|Parvovirus infections|Parvoviridae disease or disorder|infection, Parvoviridae|infection, Parvovirus|infections, Parvoviridae	http://purl.obolibrary.org/obo/MONDO_0025371	http://identifiers.org/snomedct/83223005|http://identifiers.org/mesh/D010322	
NCBITaxon:374468	biolink:OrganismalEntity	Nakaseomyces		PMID:14654427|GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_374468		
MONDO:0025376	biolink:Disease	African horse sickness	An insect-borne reovirus infection of horses, mules and donkeys in Africa and the Middle East; characterized by pulmonary edema, cardiac involvement, and edema of the head and neck.	MESH:D000355|UMLS:C0001748	mondo.json	horse sickness, African|sickness, African horse|equine Plagues|African Horsesickness|African Horsesicknesses|African horse Sicknesses|Horsesicknesses, African|Horsesickness, African|plague, equine|Plagues, equine|equine plague|horse Sicknesses, African|Sicknesses, African horse	http://purl.obolibrary.org/obo/MONDO_0025376	http://identifiers.org/mesh/D000355|UMLS:C0001748	
MONDO:0013398	biolink:Disease	acne inversa, familial, 3	Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene.	OMIM:613737|UMLS:C3151038	mondo.json	ACNINV3|acne inversa, familial, 3|PSEN1 familial acne inversa|acne inversa, familial, type 3|familial acne inversa caused by mutation in PSEN1	http://purl.obolibrary.org/obo/MONDO_0013398	https://omim.org/entry/613737|UMLS:C3151038	
MONDO:0013399	biolink:Disease	obsolete cardiomyopathy, dilated, 1T			mondo.json		http://purl.obolibrary.org/obo/MONDO_0013399		
CL:0000287	biolink:Cell	eye photoreceptor cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000287		
MONDO:0040923	biolink:Disease	late latent syphilis	Latent syphilis when infection was acquired more than twelve months previously.	UMLS:C1260915|NCIT:C128371|SCTID:186903006	mondo.json	late latent syphilis	http://purl.obolibrary.org/obo/MONDO_0040923	UMLS:C1260915|http://identifiers.org/snomedct/186903006|NCIT:C128371	
MONDO:0040922	biolink:Disease	latent early syphilis		SCTID:186867005|UMLS:C0275842	mondo.json	latent early syphilis	http://purl.obolibrary.org/obo/MONDO_0040922	http://identifiers.org/snomedct/186867005|UMLS:C0275842	
MONDO:0013392	biolink:Disease	autosomal recessive spinocerebellar ataxia 10	Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene.	Orphanet:284289|DOID:0050999|UMLS:C3150998|OMIM:613728	mondo.json	ANO10 autosomal recessive cerebellar ataxia|autosomal recessive spinocerebellar ataxia type 10|autosomal recessive cerebellar ataxia caused by mutation in ANO10|SCAR10|spinocerebellar ataxia, autosomal recessive type 10|adult-onset autosomal recessive cerebellar ataxia|spinocerebellar ataxia, autosomal recessive 10	http://purl.obolibrary.org/obo/MONDO_0013392	https://omim.org/entry/613728|Orphanet:284289|DOID:0050999|UMLS:C3150998	ordo_disease
MONDO:0013393	biolink:Disease	distal 7q11.23 microdeletion syndrome	Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).	OMIM:613729|UMLS:C3150999|Orphanet:254351	mondo.json	chromosome 7q11.23 deletion syndrome, distal, 1.2mb|chromosome 7q11.23 deletion syndrome, distal, 1.2-MB|distal del(7)(q11.23)|distal monosomy 7q11.23|distal chromosome 7Q11.23 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013393	https://omim.org/entry/613729|Orphanet:254351|UMLS:C3150999	ordo_malformation_syndrome
ENVO:01000230	biolink:NamedThing	arid	An environmental condition in which annual precipitation is less than half of annual potential evapotranspiration.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000230		
MONDO:0013390	biolink:Disease	autosomal recessive limb-girdle muscular dystrophy type 2Q	Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.	DOID:0110285|GARD:0012542|Orphanet:254361|OMIM:613723|UMLS:C3150989	mondo.json	limb-girdle muscular dystrophy type 2Q|muscular dystrophy, limb-girdle, type 2Q|muscular dystrophy, limb-girdle, autosomal recessive 17|autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency|LGMD2Q	http://purl.obolibrary.org/obo/MONDO_0013390	https://omim.org/entry/613723|Orphanet:254361|DOID:0110285|UMLS:C3150989	ordo_disease
ENVO:01000231	biolink:NamedThing	lava	Lava is a mixture of molten or semi-molten rock, volatiles, and solids which has extruded beyond a planetary crust.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000231		
MONDO:0013391	biolink:Disease	sterol carrier protein 2 deficiency	A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.	Orphanet:163684|OMIM:613724|UMLS:C3150990|GARD:0012471	mondo.json	leukoencephalopathy with dystonia and motor neuropathy|LKDMN|leukoencephalopathy-dystonia-motor neuropathy syndrome|SCP2 deficiency|sterol carrier protein 2 deficiency|leukoencephalopathy - dystonia - motor neuropathy	http://purl.obolibrary.org/obo/MONDO_0013391	https://omim.org/entry/613724|Orphanet:163684|UMLS:C3150990	ordo_disease
MONDO:0040925	biolink:Disease	latent yaws		UMLS:C0153240|SCTID:186973005	mondo.json	latent yaws	http://purl.obolibrary.org/obo/MONDO_0040925	http://identifiers.org/snomedct/186973005|UMLS:C0153240	
MONDO:0013396	biolink:Disease	chromosome 1p32-p31 deletion syndrome	1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.	DOID:0060409|SCTID:766766005|UMLS:C3151036|OMIM:613735|UMLS:CN226149|Orphanet:401986	mondo.json	monosomy 1p31p32|BRMUTD|brain malformations with or without urinary tract defects|chromosome 1p32-p31 deletion syndrome|Del(1)(p31p32)|1p31p32 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013396	https://omim.org/entry/613735|http://identifiers.org/snomedct/766766005|UMLS:CN226149|Orphanet:401986|UMLS:C3151036|DOID:0060409	ordo_malformation_syndrome
MONDO:0013397	biolink:Disease	acne inversa, familial, 2	Any familial acne inversa in which the cause of the disease is a mutation in the PSENEN gene.	OMIM:613736|UMLS:C3151037	mondo.json	acne inversa, familial, 2, with or without Dowling-Degos disease|acne inversa, familial, 2|ACNINV2|familial acne inversa caused by mutation in PSENEN|PSENEN familial acne inversa|acne inversa, familial, type 2	http://purl.obolibrary.org/obo/MONDO_0013397	https://omim.org/entry/613736|UMLS:C3151037	
NCBITaxon:11020	biolink:OrganismalEntity	Barmah Forest virus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_11020		
MONDO:0013394	biolink:Disease	porencephaly-microcephaly-bilateral congenital cataract syndrome		Orphanet:306547|UMLS:C3151000|OMIM:613730	mondo.json	HDBSCC|porencephaly-microcephaly-bilateral congenital cataract syndrome|hemorrhagic destruction of the brain, subependymal calcification, and cataracts	http://purl.obolibrary.org/obo/MONDO_0013394	https://omim.org/entry/613730|Orphanet:306547|UMLS:C3151000	ordo_malformation_syndrome
MONDO:0013395	biolink:Disease	retinitis pigmentosa 4	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene.	OMIM:613731|MESH:C566706|GARD:0010405|DOID:0110372|ICD10CM:H35.5|HGNC:10012|UMLS:C3151001	mondo.json	RHO retinitis pigmentosa|retinitis pigmentosa, rhodopsin-related|retinitis pigmentosa caused by mutation in RHO|RP 4|retinitis pigmentosa 4, autosomal dominant or recessive|RP4|retinitis pigmentosa 4|retinitis pigmentosa type 4	http://purl.obolibrary.org/obo/MONDO_0013395	https://omim.org/entry/613731|UMLS:C3151001|http://identifiers.org/mesh/C566706|DOID:0110372	gard_rare
NCBITaxon:11036	biolink:OrganismalEntity	Venezuelan equine encephalitis virus		GC_ID:1	mondo.json	VEE|Venezuelan equine encephalomyelitis virus|Venezuelan equine encephalitis VEE|VEEV|Venezuelan equine encephalitis virus VEE	http://purl.obolibrary.org/obo/NCBITaxon_11036		
MONDO:0025369	biolink:Disease	Nairobi sheep disease	An arbovirus infection of sheep and goats transmitted by ticks. It is characterized by high fever and hemorrhagic gastroenteritis.	MESH:D009265|SCTID:24069003|UMLS:C0027345	mondo.json	sheep disease, Nairobi|disease, Nairobi sheep	http://purl.obolibrary.org/obo/MONDO_0025369	http://identifiers.org/snomedct/24069003|UMLS:C0027345|http://identifiers.org/mesh/D009265	
NCBITaxon:11039	biolink:OrganismalEntity	Western equine encephalitis virus		GC_ID:1	mondo.json	Western equine encephalomyelitis virus	http://purl.obolibrary.org/obo/NCBITaxon_11039		
HGNC:26742	biolink:NamedThing	NAT8L			mondo.json		http://identifiers.org/hgnc/26742		
CL:0000295	biolink:Cell	somatotropin secreting cell	A peptide hormone secreting cell that produces growth hormone, somatotropin.		mondo.json	somatotrophin secreting cell|growth hormone secreting cell	http://purl.obolibrary.org/obo/CL_0000295		
MONDO:0013389	biolink:Disease	developmental and epileptic encephalopathy, 12	An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion.	UMLS:C3150988|DOID:0080459|GARD:0013318|OMIM:613722	mondo.json	early infantile epileptic encephalopathy caused by mutation in PLCB1|early infantile epileptic encephalopathy 12|epileptic encephalopathy, early infantile, 12|developmental and epileptic encephalopathy, 12|DEE12|PLCB1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 12|EIEE12|developmental and epileptic encephalopathy 12	http://purl.obolibrary.org/obo/MONDO_0013389	UMLS:C3150988|https://omim.org/entry/613722|DOID:0080459	gard_rare
OBO:ECTO_9000016	biolink:NamedThing	exposure to hydrogen chloride	An exposure to hydrogen chloride.		mondo.json	exposure to hydrogen chloride	http://purl.obolibrary.org/obo/ECTO_9000016		
MONDO:0013387	biolink:Disease	developmental and epileptic encephalopathy, 7	KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.	Orphanet:439218|UMLS:C3150986|GARD:0013060|OMIM:613720|DOID:0080462	mondo.json	KCNQ2-related disorders|KCNQ2-related epileptic encephalopathy|KCNQ2-NEE|developmental and epileptic encephalopathy 7|DEE7|epileptic encephalopathy, early infantile, type 7|KCNQ2-related neonatal epileptic encephalopathy|EIEE7|epileptic encephalopathy, early infantile, 7	http://purl.obolibrary.org/obo/MONDO_0013387	UMLS:C3150986|https://omim.org/entry/613720|Orphanet:439218|DOID:0080462	ordo_disease|clingen
OBO:ECTO_9000019	biolink:NamedThing	exposure to acetic acid	An exposure to acetic acid.		mondo.json	exposure to acetic acid	http://purl.obolibrary.org/obo/ECTO_9000019		
MONDO:0013388	biolink:Disease	developmental and epileptic encephalopathy, 11	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene.	UMLS:C3150987|DOID:0080421|OMIM:613721	mondo.json	epileptic encephalopathy, early infantile, 11|epileptic encephalopathy, early infantile, type 11|DEE11|early infantile epileptic encephalopathy caused by mutation in SCN2A|EIEE11|SCN2A early infantile epileptic encephalopathy|developmental and epileptic encephalopathy 11	http://purl.obolibrary.org/obo/MONDO_0013388	UMLS:C3150987|https://omim.org/entry/613721|DOID:0080421	
MONDO:0013381	biolink:Disease	neuropathy, hereditary sensory, type 1D	A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q.	DOID:0070156|OMIM:613708|UMLS:C3150972	mondo.json	HSN1D|hereditary sensory neuropathy type 1D|neuropathy, hereditary sensory, type ID|hereditary sensory neuropathy type ID	http://purl.obolibrary.org/obo/MONDO_0013381	https://omim.org/entry/613708|DOID:0070156|UMLS:C3150972	
MONDO:0013382	biolink:Disease	progressive demyelinating neuropathy with bilateral striatal necrosis	Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.	UMLS:C3150973|OMIM:613710|Orphanet:217396	mondo.json	bilateral striatal Degeneration and progressive polyneuropathy|thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)|THMD4|thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type)|progressive polyneuropathy with bilateral striatal necrosis|striatal Necrosis, bilateral, and progressive polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0013382	Orphanet:217396|https://omim.org/entry/613710|UMLS:C3150973	ordo_disease
MONDO:0013380	biolink:Disease	LEOPARD syndrome 3	Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the BRAF gene.	OMIM:613707|DOID:0080550|UMLS:C3150971	mondo.json	BRAF Noonan syndrome with multiple lentigines|leopard syndrome 3|LEOPARD syndrome 3|LPRD3|Leopard syndrome type 3|Noonan syndrome with multiple lentigines caused by mutation in BRAF	http://purl.obolibrary.org/obo/MONDO_0013380	https://omim.org/entry/613707|DOID:0080550|UMLS:C3150971	
MONDO:0013385	biolink:Disease	Treacher Collins syndrome 2	Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene.	OMIM:613717|UMLS:C3150983	mondo.json	TREACHER COLLINS syndrome 2|Treacher Collins syndrome 2|POLR1D Treacher-Collins syndrome|Treacher Collins syndrome type 2|Treacher-Collins syndrome caused by mutation in POLR1D|TCS2	http://purl.obolibrary.org/obo/MONDO_0013385	https://omim.org/entry/613717|UMLS:C3150983	
MONDO:0013386	biolink:Disease	autosomal recessive nonsyndromic hearing loss 74	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene.	DOID:0110523|UMLS:C2239351|OMIM:613718	mondo.json	MSRB3 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness 74|autosomal recessive nonsyndromic deafness type 74|deafness, autosomal recessive 74|autosomal recessive nonsyndromic deafness caused by mutation in MSRB3|autosomal recessive deafness 74|DFNB74|deafness, autosomal recessive type 74	http://purl.obolibrary.org/obo/MONDO_0013386	https://omim.org/entry/613718|UMLS:C2239351|DOID:0110523	clingen
CL:0000293	biolink:Cell	structural cell	A cell whose primary function is to provide structural support, to provide strength and physical integrity to the organism.		mondo.json		http://purl.obolibrary.org/obo/CL_0000293		
MONDO:0013383	biolink:Disease	Hirschsprung disease, susceptibility to, 3		MESH:C538121|UMLS:C2931739|OMIM:613711|GARD:0002699|OMIM:600156	mondo.json	Hirschsprung disease type 3|susceptibility to Hirschsprung disease 3|Hirschsprung disease, susceptibility to, 3|GDNF Hirschsprung disease|Hirschsprung disease modifier|Hirschsprung disease caused by mutation in GDNF|Hirschsprung disease, susceptibility to, type 3|HSCR3	http://purl.obolibrary.org/obo/MONDO_0013383	UMLS:C2931739|https://omim.org/entry/613711|http://identifiers.org/mesh/C538121	gard_rare|predisposition
MONDO:0013384	biolink:Disease	Hirschsprung disease, susceptibility to, 4	Any Hirschsprung disease in which the cause of the disease is a mutation in the EDN3 gene.	OMIM:613712	mondo.json	susceptibility to Hirschsprung disease 4|Hirschsprung disease, susceptibility to, 4|HSCR4|EDN3 Hirschsprung disease|Hirschsprung disease caused by mutation in EDN3|Hirschsprung disease, susceptibility to, type 4	http://purl.obolibrary.org/obo/MONDO_0013384	https://omim.org/entry/613712	predisposition
MONDO:0025356	biolink:Disease	azoospermia, obstructive, with nephrolithiasis		OMIM:301060	mondo.json	OAZON|azoospermia, obstructive, with nephrolithiasis, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0025356	https://omim.org/entry/301060	
MONDO:0001389	biolink:Disease	congenital coronary artery anomaly		DOID:11843|ICD9:746.85|SCTID:28574005	mondo.json	coronary artery anomaly, congenital|coronary artery abnormality|coronary artery anomaly|coronary artery abnormality [ambiguous]|congenital anomaly of coronary artery	http://purl.obolibrary.org/obo/MONDO_0001389	DOID:11843|http://identifiers.org/snomedct/28574005	
MONDO:0001388	biolink:Disease	glans penis cancer	A malignant neoplasm involving the glans penis.	SCTID:363451005|ICD9:187.2|DOID:11839|UMLS:C0153599	mondo.json	malignant glans penis neoplasm|malignant neoplasm of glans penis|malignant tumor of glans penis|cancer of glans penis|malignant tumour of glans penis|glans penis cancer	http://purl.obolibrary.org/obo/MONDO_0001388	http://identifiers.org/snomedct/363451005|DOID:11839|UMLS:C0153599	
MONDO:0001387	biolink:Disease	penile sarcoma	A malignant soft tissue neoplasm that arises from the penis. Representative examples include Kaposi sarcoma, leiomyosarcoma, and angiosarcoma.	NCIT:C7730|DOID:11838|UMLS:C0238352	mondo.json	penis sarcoma|sarcoma of penis|penile sarcoma|sarcoma of the penis	http://purl.obolibrary.org/obo/MONDO_0001387	NCIT:C7730|DOID:11838|UMLS:C0238352	
MONDO:0001386	biolink:Disease	visual epilepsy	Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or 'seizure disorder.'	DOID:11832|UMLS:C0270824|SCTID:39194005|MESH:D012640|NCIT:C3980	mondo.json	epilepsy, visual	http://purl.obolibrary.org/obo/MONDO_0001386	DOID:11832|NCIT:C3980|UMLS:C0270824|http://identifiers.org/mesh/D012640|http://identifiers.org/snomedct/39194005	
OBO:ECTO_7000008	biolink:NamedThing	exposure to clay	A exposure event involving the interaction of an exposure receptor to clay.		mondo.json	clay exposure	http://purl.obolibrary.org/obo/ECTO_7000008		
ENVO:01000256	biolink:NamedThing	mineral material	A mineral material is an environmental material which is primarily composed of some substance that is naturally occurring, solid and stable at room temperature, representable by a chemical formula, usually abiogenic, and that has an ordered atomic structure.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000256		
MONDO:0001381	biolink:Disease	bladder lymphoma	A lymphoma that involves the urinary bladder.	NCIT:C6164|UMLS:C1332561|DOID:11821	mondo.json	lymphoma of urinary bladder|primary bladder lymphoma|urinary bladder lymphoma|lymphoma of the urinary bladder|lymphoma of the bladder|lymphoma of bladder	http://purl.obolibrary.org/obo/MONDO_0001381	DOID:11821|UMLS:C1332561|NCIT:C6164	
MONDO:0001380	biolink:Disease	bladder dome cancer	Cancer of the upper, convex surface of the bladder.	SCTID:188240003|UMLS:C0496827|ICD9:188.1|DOID:11820	mondo.json	malignant neoplasm of dome of urinary bladder|malignant neoplasm of fundus of urinary bladder|fundus of urinary bladder cancer|malignant fundus of urinary bladder neoplasm|superior surface of bladder|malignant tumor of vault of bladder|cancer of fundus of urinary bladder|malignant neoplasm of apex of urinary bladder	http://purl.obolibrary.org/obo/MONDO_0001380	DOID:11820|UMLS:C0496827|http://identifiers.org/snomedct/188240003	
HP:0034238	biolink:PhenotypicFeature	Closed neural tube defect	A type of neural tube defect that is covered by skin.		mondo.json		http://purl.obolibrary.org/obo/HP_0034238		
HP:0034237	biolink:PhenotypicFeature	Open neural tube defect	A type of neural tube defect that is not covered by skin.		mondo.json		http://purl.obolibrary.org/obo/HP_0034237		
MONDO:0001385	biolink:Disease	cortical blindness	Visual impairment due to visual cortex dysfunction.	MESH:D019575|SCTID:68574006|DOID:11831|ICD9:377.75|NCIT:C118707|UMLS:C0155320	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001385	http://identifiers.org/mesh/D019575|UMLS:C0155320|DOID:11831|http://identifiers.org/snomedct/68574006|NCIT:C118707	
MONDO:0001384	biolink:Disease	myopia	The condition in which the individual does not see far distances clearly.	EFO:0003927|ICD10CM:H52.1|DOID:11830|UMLS:C0027092|ICD9:367.1|SCTID:57190000|MESH:D009216|HP:0000545|OMIMPS:160700	mondo.json	myopia (disease)|short-sightedness|near vision|near-sightedness|myopia	http://purl.obolibrary.org/obo/MONDO_0001384	https://omim.org/phenotypicSeries/PS160700|DOID:11830|UMLS:C0027092|http://identifiers.org/mesh/D009216|http://identifiers.org/snomedct/57190000|http://purl.bioontology.org/ontology/ICD10CM/H52.1	
MONDO:0025351	biolink:Disease	multiple congenital anomalies-neurodevelopmental syndrome, x-linked		OMIM:301056	mondo.json	Linked syndrome|multiple congenital anomalies-neurodevelopmental syndrome, X-linked, X-linked recessive|MCAND	http://purl.obolibrary.org/obo/MONDO_0025351	https://omim.org/entry/301056	
MONDO:0025354	biolink:Disease	spermatogenic failure, X-linked, 3		OMIM:301059	mondo.json	spermatogenic failure, X-linked, 3|SPGFX3|spermatogenic failure, X-linked, 3, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0025354	https://omim.org/entry/301059	
MONDO:0001383	biolink:Disease	degenerative myopia	Excessive axial myopia associated with complications (especially posterior staphyloma and choroidal neovascularization) that can lead to blindness.	ICD9:360.21|ICD10CM:H44.2|MESH:D047728|DOID:11829|UMLS:C0154778|SCTID:32022003|EFO:0004207	mondo.json	pathological myopia|progressive high (degenerative) myopia|progressive high myopia|degenerative progressive high myopia	http://purl.obolibrary.org/obo/MONDO_0001383	http://purl.bioontology.org/ontology/ICD10CM/H44.2|http://identifiers.org/snomedct/32022003|http://identifiers.org/mesh/D047728|DOID:11829|UMLS:C0154778	
MONDO:0025353	biolink:Disease	developmental and epileptic encephalopathy, 90		OMIM:301058	mondo.json	DEE90|developmental and epileptic encephalopathy 90, X-linked recessive, X-linked dominant|developmental and epileptic encephalopathy 90	http://purl.obolibrary.org/obo/MONDO_0025353	https://omim.org/entry/301058	
MONDO:0001382	biolink:Disease	hepatorenal syndrome	Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health (malaise). There are two distinct types of hepatorenal syndrome. Type I progresses quickly (within days), leading to kidney failure. Individuals with type I typically have dramatically reduced urine output, edema, and jaundice, and often suffer from hepatic encephalopathy. Type II progresses more slowly, over weeks or months, and the symptoms are less severe. The cause of hepatorenal syndrome is unknown. A contributing factor seems to be a narrowing of the blood vessels that connect into the kidneys. This causes a decrease in blood flow to the kidneys, impairing their function. In some cases, triggers or precipitating factors (infections, blood loss from the gastrointestinal tract, low blood pressure) are involved. Treatment is aimed at helping the liver work better and maintaining kidney function. In many cases, a liver transplant is needed. In some cases, individuals also need a kidney transplant.	ICD10CM:K76.7|GARD:0006610|NCIT:C113400|UMLS:C0019212|SCTID:51292008|MESH:D006530|ICD9:572.4|DOID:11823	mondo.json	hepato-renal syndrome	http://purl.obolibrary.org/obo/MONDO_0001382	NCIT:C113400|http://identifiers.org/mesh/D006530|DOID:11823|http://identifiers.org/snomedct/51292008|http://purl.bioontology.org/ontology/ICD10CM/K76.7|UMLS:C0019212	gard_rare
MONDO:0013378	biolink:Disease	orofacial cleft 10	Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene.	MESH:C566605|OMIM:613705|DOID:0080403	mondo.json	orofacial cleft 10|SUMO1 orofacial cleft|OFC10|orofacial cleft caused by mutation in SUMO1|cleft lip with or without cleft palate, nonsyndromic, 10|orofacial cleft 10, isolated cases|orofacial cleft type 10	http://purl.obolibrary.org/obo/MONDO_0013378	https://omim.org/entry/613705|DOID:0080403|http://identifiers.org/mesh/C566605	
PO:0009085	biolink:NamedThing	exocarp	A portion of plant tissue (PO:0009007) that is the outer layer of a pericarp (PO:0009084).	PO_GIT:149|PO_GIT:511	mondo.json	epicarp (exact)|fruit epidermis (exact)|ectocarp (exact)|flavedo (exact)|exocarpo (Spanish, exact)|outer epidermis of pericarp (related)|portion of exocarp tissue (exact)|外果皮 (Japanese, exact)|pericarp epidermis (related)	http://purl.obolibrary.org/obo/PO_0009085		Tomato|Citrus
MONDO:0013379	biolink:Disease	Noonan syndrome 7	Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene.	DOID:0060585|UMLS:C3150970|OMIM:613706	mondo.json	Noonan syndrome type 7|Noonan syndrome 7|Noonan syndrome caused by mutation in BRAF|BRAF Noonan syndrome|NS7	http://purl.obolibrary.org/obo/MONDO_0013379	UMLS:C3150970|DOID:0060585|https://omim.org/entry/613706	
PO:0009086	biolink:NamedThing	endocarp	A portion of plant tissue (PO:0009007) that is the innermost differentiated layer of a pericarp (PO:0009084).	PO_GIT:149|PO_GIT:511	mondo.json	inner epidermis of pericarp (related)|endocarpo (Spanish, exact)|citrus pulp (related)|citrus flesh (related)|portion of endocarp tissue (exact)|内果皮 (Japanese, exact)	http://purl.obolibrary.org/obo/PO_0009086		Arabidopsis|Maize|Tomato|Rice|Citrus|Poaceae
MONDO:0013376	biolink:Disease	microphthalmia, isolated, with coloboma 6		UMLS:C3150968|OMIM:613703	mondo.json	microphthalmia with coloboma 6|microphthalmia, isolated, with coloboma type 6|MCOPCB6|microphthalmia with coloboma 6, digenic|microphthalmia, isolated, with coloboma 6	http://purl.obolibrary.org/obo/MONDO_0013376	UMLS:C3150968|https://omim.org/entry/613703	
PO:0009087	biolink:NamedThing	mesocarp	A portion of plant tissue (PO:0009007) that is the middle layer of a pericarp (PO:0009084).	PO_GIT:149|PO_GIT:511	mondo.json	mesocarpo (Spanish, exact)|albedo (related)|portion of mesocarp tissue (exact)|中果皮 (Japanese, exact)	http://purl.obolibrary.org/obo/PO_0009087		Tomato|Citrus
MONDO:0013377	biolink:Disease	isolated microphthalmia 7	Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene.	DOID:0060838|UMLS:C3150969|OMIM:613704	mondo.json	microphthalmia, isolated 7|GDF3 isolated microphthalmia|MCOP7|microphthalmia, isolated type 7|isolated microphthalmia caused by mutation in GDF3|isolated microphthalmia type 7	http://purl.obolibrary.org/obo/MONDO_0013377	UMLS:C3150969|DOID:0060838|https://omim.org/entry/613704	
PO:0009084	biolink:NamedThing	pericarp	A portion of plant tissue (PO:0009007) that is the outer layer (wall) of a fruit (PO:0009001), and develops from a plant ovary (PO:0009072) or a carpel (PO:0009030) wall.	PO_GIT:149|PO_GIT:511	mondo.json	fruit rind (related)|fruit peel (related)|果皮 (Japanese, exact)|pericarpo (Spanish, exact)|portion of pericarp tissue (exact)	http://purl.obolibrary.org/obo/PO_0009084		Maize|Arabidopsis|Tomato|Rice|Citrus|Poaceae
MONDO:0013370	biolink:Disease	long QT syndrome 6	Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene.	HGNC:6242|Orphanet:101016|GARD:0010434|DOID:0110648|OMIM:613693|MESH:C566333|UMLS:C3150953	mondo.json	LQT6|long QT syndrome 3/6, digenic|long QT syndrome 6, acquired, susceptibility to|long QT syndrome caused by mutation in KCNE2|long QT syndrome type 6|KCNE2 long QT syndrome|long QT syndrome 6	http://purl.obolibrary.org/obo/MONDO_0013370	https://omim.org/entry/613693|http://identifiers.org/mesh/C566333|DOID:0110648|UMLS:C3150953	gard_rare
MONDO:0013371	biolink:Disease	dilated cardiomyopathy 1U	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene.	OMIM:613694|UMLS:C3160720|MESH:C566296|DOID:0110455	mondo.json	PSEN1 familial isolated dilated cardiomyopathy|CMD1U|dilated cardiomyopathy type 1U|familial isolated dilated cardiomyopathy caused by mutation in PSEN1|cardiomyopathy, dilated, type 1U|cardiomyopathy, dilated, 1U	http://purl.obolibrary.org/obo/MONDO_0013371	https://omim.org/entry/613694|UMLS:C3160720|http://identifiers.org/mesh/C566296|DOID:0110455	
ENVO:01000254	biolink:NamedThing	environmental system	A system which has the disposition to environ one or more material entities.		mondo.json	environment	http://purl.obolibrary.org/obo/ENVO_01000254		
MONDO:0013374	biolink:Disease	supernumerary der(22)t(8;22) syndrome		UMLS:C3150966|OMIM:613700	mondo.json	supernumerary der(22)t(8;22) syndrome|supernumerary der(22)t(8-22) syndrome	http://purl.obolibrary.org/obo/MONDO_0013374	UMLS:C3150966|https://omim.org/entry/613700	
MONDO:0013375	biolink:Disease	Klippel-Feil syndrome 3, autosomal dominant	Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene.	DOID:0080591|UMLS:C3150967|OMIM:613702	mondo.json	GDF3 isolated Klippel-Feil syndrome|isolated Klippel-Feil syndrome caused by mutation in GDF3|KFS3|Klippel-FEIL syndrome 3, autosomal dominant|Klippel-Feil syndrome 3, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0013375	UMLS:C3150967|https://omim.org/entry/613702|DOID:0080591	
MONDO:0013372	biolink:Disease	long QT syndrome 5	Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene.	HGNC:6240|Orphanet:101016|UMLS:C1867904|MESH:C566766|GARD:0010433|OMIM:613695|DOID:0110647	mondo.json	long QT syndrome 2/5, digenic|LQT5|long QT syndrome 5|long QT syndrome 5, acquired, susceptibility to|long QT syndrome caused by mutation in KCNE1|KCNE1 long QT syndrome|long QT syndrome type 5	http://purl.obolibrary.org/obo/MONDO_0013372	UMLS:C1867904|DOID:0110647|https://omim.org/entry/613695|http://identifiers.org/mesh/C566766	gard_rare
MONDO:0013373	biolink:Disease	dilated cardiomyopathy 1V	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene.	MESH:C566856|OMIM:613697|DOID:0110427|UMLS:C3150958	mondo.json	dilated cardiomyopathy type 1V|cardiomyopathy, dilated, 1V|PSEN2 familial isolated dilated cardiomyopathy|CMD1V|familial isolated dilated cardiomyopathy caused by mutation in PSEN2|cardiomyopathy, dilated, type 1V	http://purl.obolibrary.org/obo/MONDO_0013373	UMLS:C3150958|https://omim.org/entry/613697|http://identifiers.org/mesh/C566856|DOID:0110427	
ENVO:01000248	biolink:NamedThing	dense settlement biome	A dense settlement biome is an anthropogenic terrestrial biome which is primarily used for human habitation, recreation, and industry within built structures with little other land use.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000248		
HGNC:26724	biolink:NamedThing	ANKS6			mondo.json		http://identifiers.org/hgnc/26724		
MONDO:0001399	biolink:Disease	ureter leiomyoma	A benign smooth muscle neoplasm arising from the ureter. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOID:11887|UMLS:C1336875|NCIT:C6161	mondo.json	leiomyoma of ureter|leiomyoma of the ureter|ureteral leiomyoma|ureter leiomyoma	http://purl.obolibrary.org/obo/MONDO_0001399	NCIT:C6161|UMLS:C1336875|DOID:11887	
CHR:9606-chrXq	biolink:NamedThing	Xq (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chrXq		
CHR:9606-chrXp	biolink:NamedThing	Xp (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chrXp		
MONDO:0001398	biolink:Disease	ureter benign neoplasm	Cancer or tumors of the ureter which may cause obstruction leading to hydroureter, hydronephrosis, and pyelonephritis. hematuria is a common symptom.	NCIT:C3617|DOID:11885|SCTID:92464009|MESH:D014516|ICD9:223.2	mondo.json	benign ureteric neoplasm|benign ureteral neoplasm|benign tumor of ureter|benign tumor of the ureter|ureteral tumor|benign neoplasm of ureter|benign neoplasm of the ureter|benign ureter neoplasm|benign ureter tumor|ureteral benign neoplasm|ureter benign neoplasm|benign ureteral tumor	http://purl.obolibrary.org/obo/MONDO_0001398	DOID:11885|http://identifiers.org/snomedct/92464009|NCIT:C3617	
HP:0034241	biolink:PhenotypicFeature	Prenatal death	Death of a fetus in the uterus.		mondo.json	Prenatal death|Intrauterine death	http://purl.obolibrary.org/obo/HP_0034241		
MONDO:0001397	biolink:Disease	mononeuropathy	Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ischemia; traumatic injury; compression; connective tissue diseases; cumulative trauma disorders; and other conditions.	MESH:D020422|UMLS:C0494491|SCTID:128189008|DOID:1188	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001397	DOID:1188|http://identifiers.org/mesh/D020422|UMLS:C0494491|http://identifiers.org/snomedct/128189008	
OBO:ECTO_7000018	biolink:NamedThing	exposure to rock	A exposure event involving the interaction of an exposure receptor to rock.		mondo.json	rock exposure	http://purl.obolibrary.org/obo/ECTO_7000018		
NCBITaxon:11018	biolink:OrganismalEntity	Togaviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_11018		
NCBITaxon:11019	biolink:OrganismalEntity	Alphavirus		GC_ID:1	mondo.json	arboviruses group A|Alphaviridae	http://purl.obolibrary.org/obo/NCBITaxon_11019		
MONDO:0001392	biolink:Disease	monocular exotropia		SCTID:5725006|UMLS:C0152206|ICD9:378.11|DOID:11853	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001392	DOID:11853|UMLS:C0152206|http://identifiers.org/snomedct/5725006	
MONDO:0001391	biolink:Disease	indeterminate leprosy	A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules.	DOID:11851|SCTID:14386001|ICD10CM:A30.0|ICD9:030.2|UMLS:C0021192	mondo.json	indeterminate leprosy [group I]|uncharacteristic leprosy	http://purl.obolibrary.org/obo/MONDO_0001391	http://identifiers.org/snomedct/14386001|UMLS:C0021192|DOID:11851|http://purl.bioontology.org/ontology/ICD10CM/A30.0	
MONDO:0001390	biolink:Disease	transient refractive change		DOID:11850|ICD9:367.81|SCTID:81519008|UMLS:C0155000	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001390	http://identifiers.org/snomedct/81519008|DOID:11850|UMLS:C0155000	
MONDO:0001396	biolink:Disease	abnormal threshold of rods		DOID:11874|UMLS:C0155019|ICD9:368.63|ICD10CM:H53.61|SCTID:50455002	mondo.json	abnormal dark adaptation curve	http://purl.obolibrary.org/obo/MONDO_0001396	http://purl.bioontology.org/ontology/ICD10CM/H53.61|DOID:11874|http://identifiers.org/snomedct/50455002|UMLS:C0155019	
MONDO:0001395	biolink:Disease	macular keratitis		ICD9:370.22|DOID:11871|SCTID:2853006|UMLS:C0155076	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001395	http://identifiers.org/snomedct/2853006|DOID:11871|UMLS:C0155076	
MONDO:0001394	biolink:Disease	chronic erythremia		DOID:11868|ICD9:207.1	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001394		
OBO:ECTO_7000012	biolink:NamedThing	exposure to soil	A exposure event involving the interaction of an exposure receptor to soil.		mondo.json	soil exposure	http://purl.obolibrary.org/obo/ECTO_7000012		
MONDO:0001393	biolink:Disease	peripheral focal chorioretinitis		SCTID:56787009|UMLS:C0339394|ICD9:363.04|DOID:11864	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001393	DOID:11864|UMLS:C0339394|http://identifiers.org/snomedct/56787009	
HP:0010295	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the tongue	Absence or underdevelopment of the tongue.	UMLS:C4280384|UMLS:C4023916	mondo.json	Lingual aplasia/hypoplasia	http://purl.obolibrary.org/obo/HP_0010295		
MONDO:0013367	biolink:Disease	long QT syndrome 2	An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.	Orphanet:101016|DOID:0110645|UMLS:C3150943|NCIT:C137957|GARD:0003285|MESH:C563614|OMIM:613688|HGNC:6251	mondo.json	Long QT syndrome, acquired, reduced susceptibility to|long QT syndrome type 2|long QT syndrome 1/2, digenic|LQT2|long QT syndrome 2/3, digenic|long QT syndrome 2/5, digenic|long QT syndrome 2, acquired, susceptibility to|long QT syndrome 2|long QT syndrome 2/9, digenic	http://purl.obolibrary.org/obo/MONDO_0013367	DOID:0110645|UMLS:C3150943|http://identifiers.org/mesh/C563614|https://omim.org/entry/613688|NCIT:C137957	gard_rare
MONDO:0013368	biolink:Disease	mammary-digital-nail syndrome	Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.	UMLS:C3150946|SCTID:718679004|Orphanet:238744|OMIM:613689	mondo.json	onycho-digito-mammary syndrome|MDN syndrome|MDNS|mammary-digital-nail syndrome	http://purl.obolibrary.org/obo/MONDO_0013368	Orphanet:238744|UMLS:C3150946|https://omim.org/entry/613689|http://identifiers.org/snomedct/718679004	ordo_malformation_syndrome
MONDO:0013365	biolink:Disease	autosomal recessive nonsyndromic hearing loss 83	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2.	OMIM:613685|DOID:0110528	mondo.json	autosomal recessive deafness 83|DFNB83|autosomal recessive nonsyndromic deafness type 83|deafness, autosomal recessive 83|autosomal recessive nonsyndromic deafness 83	http://purl.obolibrary.org/obo/MONDO_0013365	DOID:0110528|https://omim.org/entry/613685	
MONDO:0013366	biolink:Disease	spondylocostal dysostosis 4, autosomal recessive	Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene.	OMIM:613686|UMLS:C3150942|GARD:0004976	mondo.json	spondylocostal dysostosis 4|SCDO4|spondylocostal dysostosis 4, autosomal recessive|HES7 autosomal recessive spondylocostal dysostosis|autosomal recessive spondylocostal dysostosis caused by mutation in HES7|Hes7 autosomal recessive spondylocostal dysostosis|autosomal recessive spondylocostal dysostosis caused by mutation in Hes7	http://purl.obolibrary.org/obo/MONDO_0013366	UMLS:C3150942|https://omim.org/entry/613686	
OBO:ECTO_7000020	biolink:NamedThing	exposure to sand	A exposure event involving the interaction of an exposure receptor to sand.		mondo.json	sand exposure	http://purl.obolibrary.org/obo/ECTO_7000020		
MONDO:0013369	biolink:Disease	hypertrophic cardiomyopathy 7	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.	DOID:0110313|OMIM:613690|UMLS:C1860752	mondo.json	cardiomyopathy, familial hypertrophic, 7|TNNI3 hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, type 7|hypertrophic cardiomyopathy 7|hypertrophic cardiomyopathy caused by mutation in TNNI3|cardiomyopathy, hypertrophic, 7|cardiomyopathy, familial hypertrophic 7|CMH7|hypertrophic cardiomyopathy type 7	http://purl.obolibrary.org/obo/MONDO_0013369	UMLS:C1860752|DOID:0110313|https://omim.org/entry/613690	
MONDO:0013360	biolink:Disease	brachyolmia, Maroteaux type	Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias.	Orphanet:93302|SCTID:389165004|OMIM:613678	mondo.json	brachyolmia, Maroteaux type|BCYM2|brachyolmia type 2	http://purl.obolibrary.org/obo/MONDO_0013360	https://omim.org/entry/613678|Orphanet:93302|http://identifiers.org/snomedct/389165004	ordo_malformation_syndrome
ENVO:01000242	biolink:NamedThing	desert scrubland	A scrubland which is located in a desert.		mondo.json	desert scrub	http://purl.obolibrary.org/obo/ENVO_01000242		
MONDO:0013363	biolink:Disease	chromosome 2q31.1 duplication syndrome		UMLS:C3150940|UMLS:CN203162|Orphanet:294026|DOID:0060458|OMIM:613681	mondo.json	chromosome 2q31.1 duplication syndrome|2q31.1 microduplication syndrome|mesomelic dysplasia, 2Q31.1 Duplication-related|dup(2)(q31.1)|trisomy 2q31.1	http://purl.obolibrary.org/obo/MONDO_0013363	Orphanet:294026|UMLS:C3150940|DOID:0060458|https://omim.org/entry/613681	ordo_malformation_syndrome
MONDO:0013364	biolink:Disease	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene.	NCIT:C153291|OMIM:613684|UMLS:C3150941|Orphanet:353284	mondo.json	EP300 Rubinstein-Taybi syndrome|Rubinstein-Taybi syndrome 2|Rubinstein-Taybi syndrome type 2|Rubinstein-Taybi syndrome caused by mutation in EP300|RSTS2|Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	http://purl.obolibrary.org/obo/MONDO_0013364	UMLS:C3150941|NCIT:C153291|Orphanet:353284|https://omim.org/entry/613684	ordo_clinical_subtype
MONDO:0013361	biolink:Disease	congenital prothrombin deficiency	Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms.	SCTID:73975000|OMIM:613679|Orphanet:325|ICD9:286.3|DOID:2235|UMLS:C0020640|NCIT:C131737|GARD:0002235|MESH:D007020	mondo.json	congenital prothrombin deficiency|factor 2 deficiency|Dysprothrombinemia|hereditary prothrombin deficiency|prothrombin deficiency|hypoprothrombinemia|factor II deficiency|prothrombin deficiency, congenital|congenital factor II deficiency	http://purl.obolibrary.org/obo/MONDO_0013361	DOID:2235|http://identifiers.org/snomedct/73975000|NCIT:C131737|https://omim.org/entry/613679|UMLS:C0020640|http://identifiers.org/mesh/D007020|Orphanet:325	ordo_disease|gard_rare
MONDO:0013362	biolink:Disease	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome		OMIM:613680|UMLS:C3150939|Orphanet:363444	mondo.json	Beaulieu-Boycott-Innes syndrome|BBIS|BEAULIEU-BOYCOTT-Innes syndrome|microcephaly, intellectual disability, and distinctive facies, with Cardiac and genitourinary malformations|microcephaly, mental retardation, and distinctive facies, with Cardiac and genitourinary malformations	http://purl.obolibrary.org/obo/MONDO_0013362	UMLS:C3150939|https://omim.org/entry/613680|Orphanet:363444	ordo_malformation_syndrome
NCBITaxon:1301	biolink:OrganismalEntity	Streptococcus		PMID:1720654|PMID:8995803|GC_ID:11|PMID:10555340|PMID:7537076|PMID:19620365|PMID:14657115|PMID:19880633	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1301		
MONDO:0003821	biolink:Disease	ovarian biphasic or triphasic teratoma	A germ cell tumor that arises from the ovary and is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm.	UMLS:C1518691|DOID:6232|NCIT:C39992	mondo.json	ovarian biphasic or triphasic teratoma	http://purl.obolibrary.org/obo/MONDO_0003821	UMLS:C1518691|NCIT:C39992|DOID:6232	
CHEBI:25699	biolink:ChemicalSubstance	organic ion			mondo.json	organic ions	http://purl.obolibrary.org/obo/CHEBI_25699		
MONDO:0003822	biolink:Disease	non-invasive bladder papillary urothelial neoplasm	A papillary neoplasm of the urinary bladder in which the transitional cells form papillae. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas.	NCIT:C39831|UMLS:C1518358|DOID:6239	mondo.json	papillary urothelial neoplasm of low malignant potential|non-invasive bladder papillary urothelial neoplasm|bladder papillary neoplasm of low malignant potential|bladder PUNLMP	http://purl.obolibrary.org/obo/MONDO_0003822	UMLS:C1518358|NCIT:C39831|DOID:6239	
CHEBI:25698	biolink:ChemicalSubstance	ether	An organooxygen compound with formula ROR, where R is not hydrogen.		mondo.json	ethers|ether|ethers	http://purl.obolibrary.org/obo/CHEBI_25698		
CHEBI:25697	biolink:ChemicalSubstance	organic cation	Any organic ion with a net positive charge.		mondo.json	organic cations	http://purl.obolibrary.org/obo/CHEBI_25697		
MONDO:0003823	biolink:Disease	obsolete transient hypogammaglobulinemia of infancy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003823		
MONDO:0003824	biolink:Disease	hereditary kidney oncocytoma	An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome.	DOID:6244|UMLS:C0879606|NCIT:C8960	mondo.json	familial renal oncocytoma|hereditary kidney oncocytoma|hereditary renal oncocytoma	http://purl.obolibrary.org/obo/MONDO_0003824	UMLS:C0879606|NCIT:C8960|DOID:6244	
CHEBI:25696	biolink:ChemicalSubstance	organic anion	Any organic ion with a net negative charge.		mondo.json	organic anions	http://purl.obolibrary.org/obo/CHEBI_25696		
UBERON:0000457	biolink:AnatomicalEntity	cavernous artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000457		
UBERON:0000458	biolink:AnatomicalEntity	endocervix			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000458		
UBERON:0000459	biolink:AnatomicalEntity	uterine wall			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000459		
MONDO:0003820	biolink:Disease	mature ovarian teratoma	An ovarian teratoma which may be cystic, composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues.	DOID:6231|NCIT:C8112|ONCOTREE:OMT|UMLS:C1334637	mondo.json	mature ovarian teratoma|mature teratoma of ovary|mature teratoma|ovary mature teratoma|mature teratoma of the ovary	http://purl.obolibrary.org/obo/MONDO_0003820	UMLS:C1334637|DOID:6231|NCIT:C8112	
NCBITaxon:1300	biolink:OrganismalEntity	Streptococcaceae		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1300		
MONDO:0015807	biolink:Disease	myopic macular degeneration		SCTID:312898002|UMLS:C0730271|Orphanet:178493|EFO:0009201|ICD10CM:H35.3	mondo.json	myopic maculopathy	http://purl.obolibrary.org/obo/MONDO_0015807	UMLS:C0730271|http://identifiers.org/snomedct/312898002|Orphanet:178493	ordo_disease
MONDO:0015806	biolink:Disease	adult intestinal botulism	A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia.	NCIT:C128344|Orphanet:178487|UMLS:C4289991	mondo.json	intestinal botulism of adults|adult intestinal colonization botulism|adult intestinal toxemia botulism|adult intestinal toxin-mediated botulism|infant-like botulism	http://purl.obolibrary.org/obo/MONDO_0015806	NCIT:C128344|UMLS:C4289991|Orphanet:178487	ordo_clinical_subtype
MONDO:0015805	biolink:Disease	intestinal botulism	A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism).	SCTID:409563004|UMLS:C1443901|DOID:0050141|Orphanet:178481	mondo.json	intestinal colonization botulism|intestinal toxin-mediated botulism|intestinal toxemia botulism	http://purl.obolibrary.org/obo/MONDO_0015805	UMLS:C1443901|Orphanet:178481|DOID:0050141|http://identifiers.org/snomedct/409563004	ordo_clinical_subtype
MONDO:0015804	biolink:Disease	infant botulism	A botulism that occurs between 28 days to one year of life..	NCIT:C128343|DOID:0050354|UMLS:C0238027|ICD10CM:A48.51|SCTID:414488002|Orphanet:178478	mondo.json	infant intestinal toxin-mediated botulism|infantile onset botulism|botulism of infancy|infantile botulism|infant intestinal toxemia botulism|infant intestinal botulism	http://purl.obolibrary.org/obo/MONDO_0015804	http://identifiers.org/snomedct/414488002|UMLS:C0238027|Orphanet:178478|http://purl.bioontology.org/ontology/ICD10CM/A48.51|DOID:0050354|NCIT:C128343	ordo_clinical_subtype
FOODON:03420293	biolink:NamedThing	fruit core (anatomical part)	The hard, central part of an apple, pear, etc., that contains the seeds (Source: Webster's)		mondo.json		http://purl.obolibrary.org/obo/FOODON_03420293		
MONDO:0015809	biolink:Disease	localized pagetoid reticulosis	A variant of mycosis fungoides, characterized by an exclusively intraepidermal atypical (cerebriform) lymphocytic infiltrate. Patients present with a localized psoriasiform or hyperkeratotic patch or plaque, usually in the extremities. Extracutaneous dissemination of the disease has never been reported.	NCIT:C35794|UMLS:C1276140|SCTID:404120006|ICD10CM:C84.0|Orphanet:178517|ICD9:202.70|MESH:D056267	mondo.json	pagetoid reticulosis|localized reticulosis|pagetoid reticulosis, Woringer-Kolopp type|localised reticulosis	http://purl.obolibrary.org/obo/MONDO_0015809	NCIT:C35794|UMLS:C1276140|http://identifiers.org/snomedct/404120006|http://identifiers.org/mesh/D056267|Orphanet:178517	ordo_disease
CHEBI:25693	biolink:ChemicalSubstance	organic heteromonocyclic compound			mondo.json	organic heteromonocyclic compounds	http://purl.obolibrary.org/obo/CHEBI_25693		
MONDO:0015808	biolink:Disease	folliculotropic mycosis fungoides	Folliculotropic mycosis fungoides is a rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area.	ICD9:701.8|UMLS:C1627767|SCTID:404109006|NCIT:C35685|Orphanet:178512	mondo.json	alopecia mucinosa (t cell lymphoma)|follicular mycosis fungoides|follicular mucinosis type mycosis fungoides|mycosis fungoides-associated follicular mucinosis|folliculotropic mycosis fungoides	http://purl.obolibrary.org/obo/MONDO_0015808	UMLS:C1627767|http://identifiers.org/snomedct/404109006|Orphanet:178512|NCIT:C35685	ordo_disease
MONDO:0015810	biolink:Disease	primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma		ICD10CM:C84.4|Orphanet:178522	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015810	Orphanet:178522	ordo_disease
HGNC:9988	biolink:NamedThing	RFXAP			mondo.json		http://identifiers.org/hgnc/9988		
HGNC:7325	biolink:NamedThing	MSH2			mondo.json		http://identifiers.org/hgnc/7325		
CL:1000333	biolink:Cell	serous cell of epithelium of lobular bronchiole	A serous secreting cell that is part of the epithelium of bronchiole.	FMA:263084	mondo.json		http://purl.obolibrary.org/obo/CL_1000333		
CL:1000332	biolink:Cell	serous cell of epithelium of terminal bronchiole	A serous secreting cell that is part of the epithelium of terminal bronchiole.	FMA:263082	mondo.json		http://purl.obolibrary.org/obo/CL_1000332		
UBERON:0012437	biolink:AnatomicalEntity	epithelial-mesenchymal boundary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012437		
HGNC:9986	biolink:NamedThing	RFX5			mondo.json		http://identifiers.org/hgnc/9986		
CL:1000331	biolink:Cell	serous cell of epithelium of bronchus	A serous secreting cell that is part of the epithelium of bronchus.	FMA:263080	mondo.json		http://purl.obolibrary.org/obo/CL_1000331		
HGNC:9987	biolink:NamedThing	RFXANK			mondo.json		http://identifiers.org/hgnc/9987		
HGNC:7326	biolink:NamedThing	MSH3			mondo.json		http://identifiers.org/hgnc/7326		
MONDO:0015814	biolink:Disease	primary cutaneous follicle center lymphoma	A primary lymphoma of the skin composed of various numbers of small and large irregular neoplastic follicle center cells. Its morphologic pattern can be nodular, diffuse, or nodular and diffuse. It presents with solitary or grouped plaques and tumors, and it usually involves the scalp, forehead, or trunk. It rarely involves the legs. This type of cutaneous lymphoma tends to remain localized to the skin.	Orphanet:178540|UMLS:C1333171|ICDO:9597/3|NCIT:C7217|SCTID:404143002|ONCOTREE:PCFCL	mondo.json	cutaneous follicle centre lymphoma|PCFCL|Crosti's disease|cutaneous follicle center lymphoma|Reticulohistiocytoma of the dorsum	http://purl.obolibrary.org/obo/MONDO_0015814	http://identifiers.org/snomedct/404143002|UMLS:C1333171|Orphanet:178540|NCIT:C7217	ordo_disease
CL:1000330	biolink:Cell	serous cell of epithelium of trachea	A serous secreting cell that is part of the epithelium of trachea.	FMA:263078	mondo.json		http://purl.obolibrary.org/obo/CL_1000330		
FOODON:03420294	biolink:NamedThing	fruit peel (anatomical part)	The rind or skin of fruit		mondo.json		http://purl.obolibrary.org/obo/FOODON_03420294		
HGNC:7329	biolink:NamedThing	MSH6			mondo.json		http://identifiers.org/hgnc/7329		
MONDO:0015813	biolink:Disease	primary cutaneous marginal zone B-cell lymphoma	Extranodal lymphoma of lymphoid tissue associated with mucosa that is in contact with exogenous antigens. Many of the sites of these lymphomas, such as the stomach, salivary gland, and thyroid, are normally devoid of lymphoid tissue. They acquire mucosa-associated lymphoid tissue (malt) type as a result of an immunologically mediated disorder.	NCIT:C7230|UMLS:C1275321|Orphanet:178536|SCTID:404140004	mondo.json	cutaneous Immunocytoma|C-MALT|salt lymphoma|Primary cutaneous marginal zone B cell lymphoma of mucosa-associated lymphoid tissue|marginal zone B cell lymphoma of skin|marginal zone B cell lymphoma of the skin|skin-associated lymphoid tissue lymphoma|Primary cutaneous marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue|PCMZL|Primary cutaneous marginal zone lymphoma of mucosa-associated lymphoid tissue	http://purl.obolibrary.org/obo/MONDO_0015813	UMLS:C1275321|http://identifiers.org/snomedct/404140004|Orphanet:178536|NCIT:C7230	ordo_disease
FOODON:03420295	biolink:NamedThing	fruit seed (anatomical part)	The part of a flowering plant that typically contains the embryo with its protective coat and stored food and that can develop into a new plant under the proper conditions; fertilised and mature ovule (Source: Webster's).  Seeds and fruits commonly called seeds include: grain, kernel, berry, ear, corn, nut. (Source: Webster's Thesaurus).		mondo.json		http://purl.obolibrary.org/obo/FOODON_03420295		
MONDO:0015812	biolink:Disease	primary cutaneous gamma/delta-positive T-cell lymphoma	Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported.	ICD10CM:C84.4|Orphanet:178533	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015812	Orphanet:178533	ordo_disease
MONDO:0015811	biolink:Disease	primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma	Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared.	Orphanet:178528|ICD10CM:C84.4|SCTID:765136002	mondo.json	primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma|Berti lymphoma	http://purl.obolibrary.org/obo/MONDO_0015811	http://identifiers.org/snomedct/765136002|Orphanet:178528	ordo_disease
MONDO:0003818	biolink:Disease	childhood mature teratoma of the ovary	A mature teratoma that arises from the ovary and occurs in children.	DOID:6229|NCIT:C6548|UMLS:C1332991	mondo.json	childhood mature ovarian teratoma|childhood mature teratoma of ovary|pediatric ovarian mature teratoma|pediatric mature teratoma of the ovary|pediatric mature teratoma of ovary|pediatric mature ovarian teratoma|mature ovarian teratoma of childhood|childhood ovarian mature teratoma	http://purl.obolibrary.org/obo/MONDO_0003818	UMLS:C1332991|NCIT:C6548|DOID:6229	
UBERON:0000464	biolink:AnatomicalEntity	anatomical space			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000464		
MONDO:0003819	biolink:Disease	childhood teratoma of the ovary	A mature or immature teratoma that arises from the ovary and occurs in children.	NCIT:C6554|DOID:6230|UMLS:C1332992	mondo.json	childhood teratoma of the ovary|childhood teratoma of ovary|ovarian teratoma of childhood|pediatric teratoma of ovary|pediatric ovarian teratoma|pediatric teratoma of the ovary|childhood ovarian teratoma	http://purl.obolibrary.org/obo/MONDO_0003819	UMLS:C1332992|NCIT:C6554|DOID:6230	
UBERON:0000465	biolink:AnatomicalEntity	material anatomical entity	Anatomical entity that has mass.		mondo.json		http://purl.obolibrary.org/obo/UBERON_0000465		
UBERON:0000466	biolink:AnatomicalEntity	immaterial anatomical entity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000466		
UBERON:0000467	biolink:AnatomicalEntity	anatomical system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000467		
MONDO:0003814	biolink:Disease	obsolete gastric diffuse adenocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003814		
UBERON:0000460	biolink:AnatomicalEntity	major vestibular gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000460		
MONDO:0003815	biolink:Disease	obsolete Cronkhite-Canada syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003815		
UBERON:0000461	biolink:AnatomicalEntity	minor vestibular gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000461		
MONDO:0003816	biolink:Disease	articular cartilage disorder	A disease involving the articular cartilage of joint.	ICD9:718.02|DOID:6227|UMLS:C0158073|ICD9:718.00|SCTID:53417006|ICD9:718.0	mondo.json	articular cartilage of joint disease|articular cartilage disorder|articular cartilage disorder involving multiple sites|articular cartilage disorder of shoulder region|articular cartilage disorder involving forearm|articular cartilage disorder involving upper arm|articular cartilage disorder of forearm|articular cartilage disorder of hand|articular cartilage disorder of upper arm|articular cartilage of joint disease or disorder|articular cartilage disorder involving hand|disorder of articular cartilage of joint|articular cartilage disorder of multiple sites|articular cartilage disorder involving ankle and foot|articular cartilage disorder of ankle and/or foot|disease of articular cartilage of joint|articular cartilage disorder of the pelvic region and thigh|disorder of articular cartilage|disease or disorder of articular cartilage of joint|articular cartilage disorder involving pelvic region and thigh|articular cartilage disorder involving shoulder region	http://purl.obolibrary.org/obo/MONDO_0003816	http://identifiers.org/snomedct/53417006|DOID:6227|UMLS:C0158073	
HGNC:7323	biolink:NamedThing	SEPTIN9			mondo.json		http://identifiers.org/hgnc/7323		
NCBITaxon:35278	biolink:OrganismalEntity	unclassified ssRNA positive-strand viruses		GC_ID:1	mondo.json	ssRNA positive-strand viruses|ssRNA positive-strand viruses, no DNA stage|unclassified ssRNA positive-strand viruses, no DNA stage	http://purl.obolibrary.org/obo/NCBITaxon_35278		
MONDO:0003817	biolink:Disease	obsolete peritoneal serous papillary adenocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003817		
UBERON:0000463	biolink:AnatomicalEntity	organism substance	Material anatomical entity in a gaseous, liquid, semisolid or solid state; produced by anatomical structures or derived from inhaled and ingested substances that have been modified by anatomical structures as they pass through the body.		mondo.json	body substance|organism substance|portion of body substance|portion of organism substance|body fluid or substance	http://purl.obolibrary.org/obo/UBERON_0000463		
MONDO:0003832	biolink:Disease	complement deficiency	A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited.	SCTID:24743004|Orphanet:459345|ICD9:279.8|NCIT:C4691|UMLS:C0272242|DOID:626	mondo.json	disorder of complement activation|immunodeficiency due to a complement cascade component deficiency|complement deficiency|complement activation disease|complement deficiency disease	http://purl.obolibrary.org/obo/MONDO_0003832	http://identifiers.org/snomedct/24743004|NCIT:C4691|UMLS:C0272242|DOID:626|Orphanet:459345	ordo_group_of_disorders|disease_grouping
MONDO:0003833	biolink:Disease	obsolete severe combined immunodeficiency			mondo.json	obsolete severe combined immunodeficiency (disease)	http://purl.obolibrary.org/obo/MONDO_0003833		
NCBITaxon:1313	biolink:OrganismalEntity	Streptococcus pneumoniae		GC_ID:11	mondo.json	Diplococcus pneumoniae|Micrococcus pneumoniae	http://purl.obolibrary.org/obo/NCBITaxon_1313		
MONDO:0003834	biolink:Disease	gastric cardia carcinoma	A carcinoma that arises from epithelial cells of the cardia of stomach.	NCIT:C6794|DOID:6270|EFO:1001252|UMLS:C1333763	mondo.json	carcinoma of the gastric cardia|cardia of stomach carcinoma|gastric cardia cancer|carcinoma of cardia of stomach|cancer of gastric cardia|carcinoma of the cardia of the stomach|gastric cardia (stomach) cancer|carcinoma of gastric cardia|cancer of the gastric cardia	http://purl.obolibrary.org/obo/MONDO_0003834	NCIT:C6794|DOID:6270|UMLS:C1333763	
NCBITaxon:1314	biolink:OrganismalEntity	Streptococcus pyogenes		GC_ID:11	mondo.json	Streptococcus erysipelatos|Streptococcus scarlatinae|Micrococcus scarlatinae|Streptococcus hemolyticus	http://purl.obolibrary.org/obo/NCBITaxon_1314		
HGNC:26821	biolink:NamedThing	CCDC141			mondo.json		http://identifiers.org/hgnc/26821		
MONDO:0003835	biolink:Disease	gastric cardia adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the cardia of stomach.	UMLS:C1333762|DOID:6271|NCIT:C5247	mondo.json	adenocarcinoma of the cardia of the stomach|cardia of stomach adenocarcinoma|adenocarcinoma of the gastric cardia|adenocarcinoma of gastric cardia|adenocarcinoma of cardia of stomach	http://purl.obolibrary.org/obo/MONDO_0003835	NCIT:C5247|DOID:6271|UMLS:C1333762	
CHEBI:74634	biolink:ChemicalSubstance	cardenolides	Any steroid lactone that is a  C23 steroid with a five-membered lactone ring at C-17 and its substituted derivatives. They form the aglycone constituents of cardiac glycosides.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_74634		
MONDO:0003830	biolink:Disease	type 1 papillary adenoma of the kidney		UMLS:C1519706|NCIT:C39809|DOID:6258	mondo.json	type 1 renal papillary adenoma|type 1 papillary adenoma of the kidney	http://purl.obolibrary.org/obo/MONDO_0003830	NCIT:C39809|DOID:6258|UMLS:C1519706	
MONDO:0003831	biolink:Disease	type 2 papillary adenoma of the kidney		NCIT:C39810|UMLS:C1519710|DOID:6259	mondo.json	type 2 renal papillary adenoma|type 2 papillary adenoma of the kidney	http://purl.obolibrary.org/obo/MONDO_0003831	NCIT:C39810|DOID:6259|UMLS:C1519710	
HP:0032245	biolink:PhenotypicFeature	Abnormal metabolism	An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products.		mondo.json		http://purl.obolibrary.org/obo/HP_0032245		
UBERON:0012430	biolink:AnatomicalEntity	tunica fibrosa of eyeball			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012430		
CL:1000329	biolink:Cell	tracheal goblet cell	A goblet cell that is part of the epithelium of trachea.	FMA:263075	mondo.json	goblet cell of epithelium of trachea	http://purl.obolibrary.org/obo/CL_1000329		
UBERON:0036422	biolink:AnatomicalEntity	wall of pulmonary artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036422		
CL:1000327	biolink:Cell	appendix goblet cell	A goblet cell that is part of the epithelium proper of appendix.	FMA:263069	mondo.json	goblet cell of epithelium proper of appendix	http://purl.obolibrary.org/obo/CL_1000327		
CL:1000326	biolink:Cell	ileal goblet cell	A goblet cell that is part of the epithelium proper of ileum.	FMA:263067	mondo.json	goblet cell of epithelium proper of ileum	http://purl.obolibrary.org/obo/CL_1000326		
CL:1000325	biolink:Cell	jejunal goblet cell	A goblet cell that is part of the epithelium proper of jejunum.	FMA:263065	mondo.json	goblet cell of epithelium proper of jejunum	http://purl.obolibrary.org/obo/CL_1000325		
CL:1000324	biolink:Cell	duodenal goblet cell	A goblet cell that is part of the epithelium proper of duodenum.	FMA:263063	mondo.json	goblet cell of epithelium proper of duodenum	http://purl.obolibrary.org/obo/CL_1000324		
CL:1000323	biolink:Cell	pyloric gastric gland goblet cell	A goblet cell that is part of the epithelium of pyloric gland.	FMA:263061	mondo.json	goblet cell of epithelium of pyloric gland	http://purl.obolibrary.org/obo/CL_1000323		
CL:1000322	biolink:Cell	pancreatic goblet cell	A goblet cell that is part of the epithelium of pancreatic duct.	FMA:263058	mondo.json	goblet cell of epithelium of pancreatic duct	http://purl.obolibrary.org/obo/CL_1000322		
CL:1000320	biolink:Cell	large intestine goblet cell	A goblet cell that is part of the epithelium of large intestine.	FMA:263054	mondo.json	goblet cell of epithelium of large intestine	http://purl.obolibrary.org/obo/CL_1000320		
UBERON:0012425	biolink:AnatomicalEntity	striated border microvillus layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012425		
MONDO:0015803	biolink:Disease	wound botulism	Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum.	ICD9:040.42|Orphanet:178475|NCIT:C128342|DOID:0050353|ICD10CM:A48.52|UMLS:C1306794|SCTID:398530003	mondo.json	skin infectious botulism|skin toxin-mediated botulism|cutaneous infectious botulism|cutaneous toxin-mediated botulism|inoculation botulism	http://purl.obolibrary.org/obo/MONDO_0015803	http://identifiers.org/snomedct/398530003|UMLS:C1306794|Orphanet:178475|http://purl.bioontology.org/ontology/ICD10CM/A48.52|DOID:0050353|NCIT:C128342	ordo_etiological_subtype
MONDO:0015802	biolink:Disease	autosomal dominant non-syndromic intellectual disability	Autosomal dominant form of non-syndromic intellectual disability.	Orphanet:178469|DOID:0060307|GARD:0012107|UMLS:CN200399	mondo.json	non-syndromic intellectual disability, autosomal dominant|autosomal dominant mental retardation|autosomal dominant non-syndromic mental retardation|autosomal dominant non-syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0015802	DOID:0060307|Orphanet:178469|UMLS:CN200399	gard_rare
MONDO:0015801	biolink:Disease	hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation		UMLS:CN200394|Orphanet:178396	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015801	Orphanet:178396|UMLS:CN200394	ordo_disease
MONDO:0015800	biolink:Disease	osteosclerosis-developmental delay-craniosynostosis syndrome	This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.	UMLS:CN200391|SCTID:722117000|Orphanet:178377	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015800	http://identifiers.org/snomedct/722117000|Orphanet:178377|UMLS:CN200391	ordo_malformation_syndrome
UBERON:0012429	biolink:AnatomicalEntity	hematopoietic tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012429		
GO:0001705	biolink:NamedThing	ectoderm formation	The formation of ectoderm during gastrulation.		mondo.json		http://purl.obolibrary.org/obo/GO_0001705		
MONDO:0003829	biolink:Disease	chromophil adenoma of the kidney	A controversial term, used for renal papillary lesions which measure 1cm or less in diameter and contain small, regular nuclei.	DOID:6257|UMLS:C1518879|NCIT:C3687	mondo.json	papillary adenoma of the kidney|renal papillary adenoma|chromophil adenoma of the kidney	http://purl.obolibrary.org/obo/MONDO_0003829	UMLS:C1518879|NCIT:C3687|DOID:6257	
GO:0001706	biolink:NamedThing	endoderm formation	The formation of the endoderm during gastrulation.		mondo.json	endoblast formation	http://purl.obolibrary.org/obo/GO_0001706		
UBERON:0000454	biolink:AnatomicalEntity	cerebral subcortex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000454		
GO:0001707	biolink:NamedThing	mesoderm formation	The process that gives rise to the mesoderm. This process pertains to the initial formation of the structure from unspecified parts.		mondo.json		http://purl.obolibrary.org/obo/GO_0001707		
UBERON:0000456	biolink:AnatomicalEntity	secretion of exocrine gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000456		
HGNC:9990	biolink:NamedThing	RGR			mondo.json		http://identifiers.org/hgnc/9990		
MONDO:0003825	biolink:Disease	kidney oncocytoma	A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions.	SCTID:254922006|ONCOTREE:ROCY|DOID:6245|MESH:C537750|NCIT:C4526|GARD:0008477|UMLS:C0346255|EFO:1000315	mondo.json	renal oncocytoma|ROCY|oncocytoma kidney|renal epithelial oncocytic neoplasm|oncocytoma of kidney|oncocytoma of the kidney|kidney oncocytoma|oncocytoma renal|kidney oncocytic neoplasm|renal epithelial oncocytic tumor	http://purl.obolibrary.org/obo/MONDO_0003825	http://identifiers.org/snomedct/254922006|NCIT:C4526|UMLS:C0346255|DOID:6245|http://identifiers.org/mesh/C537750	gard_rare
GO:0001701	biolink:NamedThing	in utero embryonic development	The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus.		mondo.json		http://purl.obolibrary.org/obo/GO_0001701		
MONDO:0003826	biolink:Disease	mediastinum seminoma	An extragonadal malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. It usually arises from the anterior mediastinum. It may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. The prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors.	NCIT:C6812|UMLS:C1334680|DOID:6249	mondo.json	seminoma of the mediastinum|seminoma of mediastinum|mediastinum seminoma|mediastinal seminoma	http://purl.obolibrary.org/obo/MONDO_0003826	NCIT:C6812|UMLS:C1334680|DOID:6249	
MONDO:0003827	biolink:Disease	transient hypogammaglobulinemia	A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels.	UMLS:C0859960|NCIT:C27319|DOID:625	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003827	NCIT:C27319|UMLS:C0859960|DOID:625	
GO:0001704	biolink:NamedThing	formation of primary germ layer	The formation of the ectoderm, mesoderm and endoderm during gastrulation.		mondo.json		http://purl.obolibrary.org/obo/GO_0001704		
MONDO:0003828	biolink:Disease	growth hormone-producing pituitary gland carcinoma	A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces growth hormone. It may be associated with acromegaly.	UMLS:C1334587|DOID:6256|NCIT:C5963	mondo.json	malignant somatotropinoma of pituitary|malignant pituitary somatotropinoma|malignant Growth hormone secreting pituitary neoplasm|malignant Growth hormone producing tumor of the pituitary gland|malignant Growth hormone secreting neoplasm of the pituitary gland|malignant Growth hormone secreting pituitary gland neoplasm|malignant Growth hormone producing tumor of pituitary gland|malignant Growth hormone secreting neoplasm of pituitary gland|malignant Growth hormone producing tumor of the pituitary|malignant Growth hormone secreting neoplasm of the pituitary|malignant Growth hormone secreting pituitary gland tumor|malignant Growth hormone producing tumor of pituitary|malignant Growth hormone secreting neoplasm of pituitary|malignant Growth hormone secreting tumor of the pituitary gland|malignant Growth hormone secreting pituitary tumor|malignant Growth hormone producing neoplasm of the pituitary gland|Growth hormone-producing pituitary gland carcinoma|malignant Growth hormone secreting tumor of pituitary gland|malignant Growth hormone producing neoplasm of pituitary gland|malignant pituitary Somatotrophinoma|malignant Growth hormone secreting tumor of the pituitary|malignant Growth hormone producing neoplasm of the pituitary|malignant Growth hormone producing pituitary gland tumor|malignant somatotropinoma|malignant Growth hormone secreting tumor of pituitary|malignant Somatotrophinoma of the pituitary gland|malignant pituitary gland Somatotrophinoma|Growth hormone producing pituitary gland carcinoma|malignant Growth hormone producing neoplasm of pituitary|malignant Growth hormone producing pituitary tumor|malignant Somatotrophinoma of pituitary gland|malignant Growth hormone producing pituitary neoplasm|malignant somatotropinoma of the pituitary gland|malignant somatotropinoma of pituitary gland|malignant Growth hormone producing pituitary gland neoplasm|malignant Somatotrophinoma of pituitary|malignant Growth hormone producing tumor|malignant somatotropinoma of the pituitary|malignant pituitary gland somatotropinoma	http://purl.obolibrary.org/obo/MONDO_0003828	NCIT:C5963|UMLS:C1334587|DOID:6256	
CHEBI:23014	biolink:ChemicalSubstance	carbon oxide			mondo.json	oxides of carbon|carbon oxides	http://purl.obolibrary.org/obo/CHEBI_23014		
UBERON:0000439	biolink:AnatomicalEntity	arachnoid trabecula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000439		
MONDO:0003800	biolink:Disease	conventional malignant hemangiopericytoma	A malignant hemangiopericytoma characterized by the presence of necrotic changes and in some cases high mitotic activity.	NCIT:C9425|DOID:6197|UMLS:C1333158	mondo.json	conventional malignant hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0003800	UMLS:C1333158|DOID:6197|NCIT:C9425	
ENVO:00002982	biolink:NamedThing	clay	A group of hydrous aluminium phyllosilicate (phyllosilicates being a subgroup of silicate minerals) minerals (see clay minerals), that are typically less than 2 micrometres in diameter. Clay consists of a variety of phyllosilicate minerals rich in silicon and aluminium oxides and hydroxides which include variable amounts of structural water.		mondo.json		http://purl.obolibrary.org/obo/ENVO_00002982		
MONDO:0003801	biolink:Disease	corneal intraepithelial neoplasm	A squamous cell intraepithelial neoplasia that involves the cornea.	SCTID:420835009|DOID:6198|NCIT:C6093|UMLS:C1333159	mondo.json	cornea intraepithelial neoplasia|intraepithelial neoplasia of cornea|intraepithelial neoplasia of the cornea|cornea squamous cell intraepithelial neoplasia|corneal intraepithelial neoplasia	http://purl.obolibrary.org/obo/MONDO_0003801	NCIT:C6093|UMLS:C1333159|DOID:6198|http://identifiers.org/snomedct/420835009	
CHEBI:50630	biolink:ChemicalSubstance	cyclooxygenase 1 inhibitor	A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 1.		mondo.json	COX-1 inhibitor|COX-1 inhibitors|PTGS1 inhibitors|prostaglandin H2 synthase 1 inhibitors|cyclooxygenase 1 inhibitors|prostaglandin G/H synthase 1 inhibitors|prostaglandin-endoperoxide synthase 1 inhibitors|cyclo-oxygenase 1 inhibitors|cyclooxygenase-1 inhibitors|prostaglandin-endoperoxide synthase 1 inhibitor|cyclooxygenase-1 inhibitor|cyclo-oxygenase 1 inhibitor|prostaglandin G/H synthase 1 inhibitor|prostaglandin H2 synthase 1 inhibitor|PTGS1 inhibitor	http://purl.obolibrary.org/obo/CHEBI_50630		
MONDO:0003802	biolink:Disease	cornea cancer	A malignant neoplasm involving the cornea.	ICD9:190.4|UMLS:C0153629|DOID:6199|NCIT:C3565|SCTID:363464006	mondo.json	cornea cancer|malignant neoplasm of cornea|malignant cornea neoplasm|malignant cornea tumor|malignant neoplasm of the cornea|malignant corneal neoplasm|malignant neoplasm of cornea (primary)|malignant corneal tumor|cancer of cornea|malignant tumor of cornea|corneal tumor|malignant tumor of the cornea	http://purl.obolibrary.org/obo/MONDO_0003802	http://identifiers.org/snomedct/363464006|UMLS:C0153629|NCIT:C3565|DOID:6199	
CHEBI:23018	biolink:ChemicalSubstance	EC 4.2.1.1 (carbonic anhydrase) inhibitor	An EC 4.2.1.* (hydro-lyases) inhibitor that interferes with the action of carbonic anhydrase (EC 4.2.1.1). Such compounds reduce the secretion of H(+) ions by the proximal kidney tubule.		mondo.json	carbonate dehydratase inhibitors|carboxyanhydrase inhibitors|carbonate hydro-lyase (carbon-dioxide-forming) inhibitors|anhydrase inhibitors|EC 4.2.1.1 (carbonic anhydrase) inhibitors|carbonic anhydrase (EC 4.2.1.1) inhibitors|carbonic anhydrase (EC 4.2.1.1) inhibitor|anhydrase inhibitor|carbonate hydro-lyase (carbon-dioxide-forming) inhibitor|carbonate dehydratase inhibitor|carboxyanhydrase inhibitor|carbonate anhydrase inhibitors|EC 4.2.1.1 inhibitors|carbonic acid anhydrase inhibitors|carbonic anhydrase inhibitors|carbonate hydro-lyase inhibitors|carbonic anhydrase A inhibitors|carbonic anhydrase A inhibitor|carbonate hydro-lyase inhibitor|carbonic anhydrase inhibitor|carbonic acid anhydrase inhibitor|EC 4.2.1.1 inhibitor|carbonate anhydrase inhibitor	http://purl.obolibrary.org/obo/CHEBI_23018		
CHEBI:23019	biolink:ChemicalSubstance	carbonyl group			mondo.json	carbonyl group|>C=O|carbonyl	http://purl.obolibrary.org/obo/CHEBI_23019		
NCBITaxon:59263	biolink:OrganismalEntity	Toxascaris		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_59263		
CHEBI:50634	biolink:ChemicalSubstance	acetazolamide(1-)			mondo.json	acetazolamide|[(5-acetamido-1,3,4-thiadiazol-2-yl)sulfonyl]azanide	http://purl.obolibrary.org/obo/CHEBI_50634		
HP:0032251	biolink:PhenotypicFeature	Abnormal immune system morphology			mondo.json		http://purl.obolibrary.org/obo/HP_0032251		
UBERON:0012423	biolink:AnatomicalEntity	layer of microvilli			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012423		
UBERON:0012416	biolink:AnatomicalEntity	respiratory system arterial smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012416		
CHEBI:60004	biolink:ChemicalSubstance	mixture	A mixture is a chemical substance composed of multiple molecules, at least two of which are of a different kind.		mondo.json	Mischung	http://purl.obolibrary.org/obo/CHEBI_60004		
UBERON:0012418	biolink:AnatomicalEntity	respiratory system venous smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012418		
UBERON:0000442	biolink:AnatomicalEntity	right testicular vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000442		
UBERON:0000443	biolink:AnatomicalEntity	left testicular vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000443		
UBERON:0000440	biolink:AnatomicalEntity	trabecula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000440		
NCBITaxon:11286	biolink:OrganismalEntity	Lyssavirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_11286		
HP:0020219	biolink:PhenotypicFeature	Motor seizure	A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.		mondo.json		http://purl.obolibrary.org/obo/HP_0020219		
MONDO:0003810	biolink:Disease	bladder diffuse clear cell adenocarcinoma	A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a diffuse pattern.	DOID:6210|UMLS:C1511187|NCIT:C39849	mondo.json	bladder diffuse clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003810	NCIT:C39849|DOID:6210|UMLS:C1511187	
UBERON:0000428	biolink:AnatomicalEntity	prostate epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000428		
MONDO:0003811	biolink:Disease	ovarian seromucinous tumor	A benign, borderline, or malignant mixed epithelial tumor of the ovary. It is characterized by the presence of more than one epithelial cell type, most often serous and endocervical-type mucinous.	NCIT:C4508|DOID:6211|SCTID:254855000|EFO:1000425|UMLS:C0346166	mondo.json	ovarian Seromucinous tumor|mixed epithelial tumor of the ovary|ovarian mixed epithelial tumor|mixed epithelial tumor of ovary|ovarian mixed epithelial neoplasm|mixed epithelial neoplasm of the ovary|mixed epithelial neoplasm of ovary	http://purl.obolibrary.org/obo/MONDO_0003811	http://identifiers.org/snomedct/254855000|NCIT:C4508|UMLS:C0346166|DOID:6211	
MONDO:0003812	biolink:Disease	ovarian endometrial cancer	A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.	DOID:6212|UMLS:C1518231|NCIT:C40051	mondo.json	endometrioid tumor of ovary|ovarian endometrioid neoplasm|ovary female reproductive endometrioid cancer|ovary endometrioid tumor|malignant ovarian endometrioid tumor|endometrioid neoplasm of ovary	http://purl.obolibrary.org/obo/MONDO_0003812	UMLS:C1518231|NCIT:C40051|DOID:6212	
MONDO:0003813	biolink:Disease	ovarian papillary tumor	A benign, borderline, or malignant epithelial tumor that arises from the ovary and is characterized by the presence of papillary proliferations. Representative examples include surface papilloma, borderline serous surface papillary tumor, and serous surface papillary adenocarcinoma.	NCIT:C8430|DOID:6214|UMLS:C0476121	mondo.json	papillary neoplasm of ovary|ovarian papillary tumor (morphologic abnormality)|papillary tumor of the ovary|ovarian papillary neoplasm|ovarian papillary tumor|papillary tumor of ovary|ovarian papillary tumour|papillary neoplasm of the ovary	http://purl.obolibrary.org/obo/MONDO_0003813	DOID:6214|UMLS:C0476121|NCIT:C8430	
CHEBI:49637	biolink:ChemicalSubstance	hydrogen atom			mondo.json	hydrogen|hydrogen|hidrogeno|H|Wasserstoff|1H|hydrogene	http://purl.obolibrary.org/obo/CHEBI_49637		
UBERON:0036441	biolink:AnatomicalEntity	wall of uterine tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036441		
CHEBI:50629	biolink:ChemicalSubstance	cyclooxygenase 2 inhibitor	A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 2.		mondo.json	cyclo-oxygenase-2 inhibitors|COX-2 inhibitor|prostaglandin H synthase-2 inhibitor|prostaglandin H synthase-2 inhibitors|COX-2 inhibitors|cyclo-oxygenase-2 inhibitor|cyclooxygenase 2 inhibitors|cyclo-oxygenase 2 inhibitor|prostaglandin-endoperoxide synthase 2 inhibitor|PGHS-2 inhibitors|cyclooxygenase-2 inhibitor|prostaglandin-endoperoxide synthase 2 inhibitors|cyclo-oxygenase 2 inhibitors|PGHS-2 inhibitor|cyclooxygenase-2 inhibitors	http://purl.obolibrary.org/obo/CHEBI_50629		
HP:0010892	biolink:PhenotypicFeature	Abnormal circulating branched chain amino acid concentration	Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation.	UMLS:C4023673	mondo.json		http://purl.obolibrary.org/obo/HP_0010892		
HP:0032263	biolink:PhenotypicFeature	Increased blood pressure	Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension.		mondo.json	Increased BP	http://purl.obolibrary.org/obo/HP_0032263		
ENVO:00000339	biolink:NamedThing	piece of rock	An abiotic  mesoscopic feature made of the mineral material of the crust of the Earth.		mondo.json		http://purl.obolibrary.org/obo/ENVO_00000339		
MONDO:0003807	biolink:Disease	obsolete follicular thyroid adenoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003807		
MONDO:0003808	biolink:Disease	mediastinal extraskeletal osteosarcoma	An osteosarcoma arising from the mediastinum.	DOID:6208|NCIT:C6615|UMLS:C1334675	mondo.json	mediastinum osteosarcoma (disease)|mediastinal extraskeletal osteosarcoma|osteogenic sarcoma of the mediastinum|mediastinal osteosarcoma|osteogenic sarcoma of mediastinum|osteosarcoma of mediastinum|osteosarcoma of the mediastinum|mediastinal osteogenic sarcoma	http://purl.obolibrary.org/obo/MONDO_0003808	NCIT:C6615|UMLS:C1334675|DOID:6208	
MONDO:0003809	biolink:Disease	malignant mediastinum hemangiopericytoma	A malignant hemangiopericytoma arising in the mediastinum.	NCIT:C6608|DOID:6209|UMLS:C1334598	mondo.json	mediastinum hemangiopericytoma|malignant mediastinal hemangiopericytoma|malignant hemangiopericytoma of mediastinum|malignant hemangiopericytoma of the mediastinum|mediastinum spindle cell tumor	http://purl.obolibrary.org/obo/MONDO_0003809	NCIT:C6608|UMLS:C1334598|DOID:6209	
NCBITaxon:11292	biolink:OrganismalEntity	Lyssavirus rabies		GC_ID:1	mondo.json	Rabies lyssavirus|Rabies virus	http://purl.obolibrary.org/obo/NCBITaxon_11292		
MONDO:0003803	biolink:Disease	aortic valve disorder	A disease involving the aortic valve.	ICD9:424.1|NCIT:C78650|UMLS:C1260873|DOID:62|ICD9:395	mondo.json	disorder of aortic valve|aortic valve disorder|disease of aortic valve|disease or disorder of aortic valve|aortic valve disease|aortic valve disease or disorder	http://purl.obolibrary.org/obo/MONDO_0003803	DOID:62|UMLS:C1260873|NCIT:C78650	
MONDO:0003804	biolink:Disease	obsolete blood protein disease		DOID:620|MESH:D001796|UMLS:C0005830	mondo.json	Protein disorder, blood|disorder, blood Protein|disorders, blood Protein|blood Protein disorder|blood protein disorder|Protein disorders, blood	http://purl.obolibrary.org/obo/MONDO_0003804	http://identifiers.org/mesh/D001796|DOID:620|UMLS:C0005830	
MONDO:0003805	biolink:Disease	malignant pericardial mesothelioma	A rare neoplasm of mesothelial origin that arises from the pericardium.	NCIT:C7631|UMLS:C0346110|HP:0100004|SCTID:109383000|DOID:6201|UMLS:C1335381	mondo.json	malignant mesothelioma of the pericardium|pericardium malignant mesothelioma (disease)|pericardial malignant mesothelioma|malignant mesothelioma (disease) of pericardium|pericardial mesothelioma|pericardium mesothelioma|malignant pericardial mesothelioma|malignant mesothelioma of pericardium	http://purl.obolibrary.org/obo/MONDO_0003805	http://identifiers.org/snomedct/109383000|NCIT:C7631|UMLS:C0346110|UMLS:C1335381|DOID:6201	
MONDO:0003806	biolink:Disease	thyroid hyalinizing trabecular adenoma	A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course.	DOID:6203|ONCOTREE:HTAT|NCIT:C6846|ICDO:8336/0|EFO:1000588|UMLS:C1336751	mondo.json	PLAT|hyalinizing trabecular adenoma of the thyroid|paraganglioma-like adenoma|hyalinizing trabecular adenoma of thyroid|thyroid gland hyalinizing trabecular tumor|hyalinizing trabecular tumor|HTAT|thyroid hyalinizing trabecular adenoma	http://purl.obolibrary.org/obo/MONDO_0003806	NCIT:C6846|UMLS:C1336751|DOID:6203	
MONDO:0001202	biolink:Disease	prostatic cyst		SCTID:409658007|DOID:11133|UMLS:C1443972|ICD9:600.3|ICD9:599.89|ICD10CM:N42.83	mondo.json	cyst of prostate	http://purl.obolibrary.org/obo/MONDO_0001202	UMLS:C1443972|http://purl.bioontology.org/ontology/ICD10CM/N42.83|DOID:11133|http://identifiers.org/snomedct/409658007	
MONDO:0003865	biolink:Disease	acral lentiginous melanoma	A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells.	ICDO:8744/3|SCTID:254732008|HP:0012060|NCIT:C4022|GARD:0009570|UMLS:C0346037|DOID:6367|ONCOTREE:ACRM	mondo.json	subungual melanoma|acral melanoma|acral lentiginous melanoma|acral lentiginous melanoma (disease)|acral lentiginous melanoma, malignant (morphologic abnormality)|acral lentiginous melanoma, malignant|ALM|malignant acral lentiginous melanoma|acral lentiginous malignant melanoma|acral lentiginous malignant melanoma of skin|palmar/plantar melanoma	http://purl.obolibrary.org/obo/MONDO_0003865	DOID:6367|http://identifiers.org/snomedct/254732008|NCIT:C4022|UMLS:C0346037	
MONDO:0001201	biolink:Disease	obsolete MONDO:0001201			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001201		
MONDO:0003866	biolink:Disease	liver extraskeletal osteosarcoma	An osteosarcoma arising from the liver.	UMLS:C1333974|DOID:6370|NCIT:C5833	mondo.json	liver osteogenic sarcoma|liver extraskeletal osteosarcoma|osteogenic sarcoma of the liver|hepatic osteosarcoma|osteogenic sarcoma of liver|liver osteosarcoma (disease)|osteosarcoma of liver|liver osteosarcoma|hepatic osteogenic sarcoma|osteosarcoma of the liver|hepatic extraskeletal osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0003866	DOID:6370|UMLS:C1333974|NCIT:C5833	
MONDO:0001200	biolink:Disease	secondary hypertension	High blood pressure caused by an underlying medical condition.	ICD9:405|ICD9:405.99|UMLS:C0155616|DOID:11130|SCTID:31992008|ICD9:405.9|EFO:1002034	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001200	http://identifiers.org/snomedct/31992008|UMLS:C0155616|DOID:11130	
MONDO:0003867	biolink:Disease	diffuse meningeal melanocytosis	A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)	EFO:1000216|UMLS:C1266112|NCIT:C6890|DOID:6379|ICDO:8728/0	mondo.json	diffuse melanocytosis (morphologic abnormality)|meningeal melanocytosis|diffuse melanocytosis|diffuse melanosis	http://purl.obolibrary.org/obo/MONDO_0003867	DOID:6379|UMLS:C1266112|NCIT:C6890	
MONDO:0003868	biolink:Disease	anterior foramen magnum meningioma	A meningioma that affects the anterior foramen magnum.	DOID:6381|UMLS:C1332302|NCIT:C5281	mondo.json	meningioma of the anterior Foramen magnum|meningioma of anterior Foramen magnum	http://purl.obolibrary.org/obo/MONDO_0003868	DOID:6381|UMLS:C1332302|NCIT:C5281	
MONDO:0003861	biolink:Disease	vulvar eccrine adenocarcinoma	An eccrine adenocarcinoma that arises from the sweat glands in the vulva.	UMLS:C2202743|NCIT:C40305|DOID:6339	mondo.json	eccrine carcinoma of mammalian vulva|mammalian vulva eccrine carcinoma|vulvar eccrine adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003861	DOID:6339|NCIT:C40305|UMLS:C2202743	
MONDO:0001206	biolink:Disease	aqueous misdirection		ICD9:365.83|DOID:11149	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001206	DOID:11149	
UBERON:0012482	biolink:AnatomicalEntity	submucosa of cloaca			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012482		
MONDO:0001205	biolink:Disease	hypersecretion glaucoma		ICD9:365.81|UMLS:C0154968|SCTID:29369005|DOID:11148	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001205	UMLS:C0154968|http://identifiers.org/snomedct/29369005|DOID:11148	
MONDO:0003862	biolink:Disease	melanotic psammomatous malignant peripheral nerve sheath tumor	A malignant peripheral nerve sheath tumor characterized by the presence of malignant cells that contain melanin and formation of psammoma bodies.	DOID:6344|UMLS:C1513101|NCIT:C6910	mondo.json	melanotic psammomatous malignant peripheral nerve sheath tumor|melanocytic psammomatous malignant peripheral nerve sheath tumor|melanocytic psammomatous MPNST	http://purl.obolibrary.org/obo/MONDO_0003862	DOID:6344|NCIT:C6910	
UBERON:0012481	biolink:AnatomicalEntity	cloacal epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012481		
MONDO:0003863	biolink:Disease	malignant melanocytic neoplasm of the peripheral nerve sheath	A rare variant of malignant peripheral nerve sheath tumor. It is characterized by the presence of malignant cells that contain melanin.	ICD9:171.9|UMLS:C0474847|DOID:6345|NCIT:C4748|SCTID:404039004	mondo.json	melanocytic MPNST|melanotic malignant peripheral nerve sheath tumour|melanotic malignant peripheral nerve sheath tumor (morphologic abnormality)|malignant melanotic peripheral nerve sheath tumor|melanotic malignant peripheral nerve sheath tumor|melanotic malignant nerve sheath tumor|malignant melanocytic neoplasm of the peripheral nerve sheath|malignant melanocytic neoplasm of peripheral nerve sheath|malignant melanocytic peripheral nerve sheath tumor	http://purl.obolibrary.org/obo/MONDO_0003863	DOID:6345|http://identifiers.org/snomedct/404039004|UMLS:C0474847|NCIT:C4748	
MONDO:0001204	biolink:Disease	esophagus sarcoma	A malignant soft tissue neoplasm that arises from the esophagus. Representative examples include Kaposi sarcoma, leiomyosarcoma, rhabdomyosarcoma, and synovial sarcoma.	NCIT:C5341|DOID:1114|UMLS:C1333466	mondo.json	esophagus sarcoma|sarcoma, esophagus|esophageal sarcoma|sarcoma of esophagus|sarcoma of the esophagus	http://purl.obolibrary.org/obo/MONDO_0001204	UMLS:C1333466|DOID:1114|NCIT:C5341	
UBERON:0012480	biolink:AnatomicalEntity	cloacal mucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012480		
MONDO:0001203	biolink:Disease	prolapse of lacrimal gland		UMLS:C0155231|SCTID:84777002|DOID:11134|ICD9:375.16	mondo.json	dislocation of lacrimal gland	http://purl.obolibrary.org/obo/MONDO_0001203	UMLS:C0155231|DOID:11134|http://identifiers.org/snomedct/84777002	
MONDO:0003864	biolink:Disease	chronic lymphocytic leukemia/small lymphocytic lymphoma	An indolent, mature B-cell neoplasm composed of small, round B-lymphocytes. When the bone marrow and peripheral blood are involved, the term chronic lymphocytic leukemia is used. The term small lymphocytic lymphoma is restricted to cases which do not show leukemic involvement of the bone marrow and peripheral blood.	NCIT:C27911|UMLS:C1302547|ICDO:9823/3|ONCOTREE:CLLSLL|DOID:6354	mondo.json	chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality)|CLL/SLL|chronic lymphocytic leukemia/small lymphocytic lymphoma	http://purl.obolibrary.org/obo/MONDO_0003864	DOID:6354|UMLS:C1302547|NCIT:C27911	
UBERON:0012486	biolink:AnatomicalEntity	muscle layer of cloaca			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012486		
UBERON:0012485	biolink:AnatomicalEntity	cloacal villus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012485		
MONDO:0015849	biolink:Disease	longitudinal vaginal septum		Orphanet:180157|HP:0008740	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015849	Orphanet:180157	ordo_clinical_subtype
MONDO:0003860	biolink:Disease	cerebellopontine angle meningioma	A meningioma that affects the cerebellopontine angle.	UMLS:C1263882|SCTID:126948004|DOID:6337|NCIT:C5300	mondo.json	meningioma of cerebellopontine angle|meningioma of cerebellar Pontine angle|meningioma of the cerebellopontine angle|meningioma of the cerebellar Pontine angle|meningioma (disease) of cerebellopontine angle|cerebellar Pontine angle meningioma|cerebellopontine angle meningioma (disease)|C-P angle meningioma|meningioma of the C-P angle|meningioma of C-P angle	http://purl.obolibrary.org/obo/MONDO_0003860	DOID:6337|http://identifiers.org/snomedct/126948004|NCIT:C5300|UMLS:C1263882	
MONDO:0015848	biolink:Disease	septate vagina		HP:0001153|Orphanet:180154|ICD9:752.49|SCTID:47054003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015848	http://identifiers.org/snomedct/47054003|Orphanet:180154	ordo_morphological_anomaly|obsoletion_candidate
UBERON:0012483	biolink:AnatomicalEntity	serosa of cloaca			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012483		
UBERON:0012489	biolink:AnatomicalEntity	muscle layer of colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012489		
UBERON:0012488	biolink:AnatomicalEntity	muscle layer of duodenum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012488		
UBERON:0012487	biolink:AnatomicalEntity	vaginal sphincter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012487		
MONDO:0015854	biolink:Disease	supernumerary breasts		Orphanet:180182|MedDRA:10049786	mondo.json	accessory breasts|polymastia	http://purl.obolibrary.org/obo/MONDO_0015854	Orphanet:180182	ordo_morphological_anomaly
MONDO:0015853	biolink:Disease	deficient breast volume or number		Orphanet:180173	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015853	Orphanet:180173	disease_grouping|ordo_group_of_disorders
CHEBI:60027	biolink:ChemicalSubstance	polymer	A polymer is a mixture, which is composed of macromolecules of different kinds and which may be differentiated by composition, length, degree of branching etc..		mondo.json	Polymer|Kunststoff	http://purl.obolibrary.org/obo/CHEBI_60027		
MONDO:0015852	biolink:Disease	excess breast volume or number		Orphanet:180170	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015852	Orphanet:180170	ordo_group_of_disorders|disease_grouping
MONDO:0015851	biolink:Disease	obsolete rare breast malformation		Orphanet:180163	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015851	Orphanet:180163	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0015858	biolink:Disease	obsolete rare non-malformative breast disease		UMLS:CN200460|Orphanet:180202	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015858	UMLS:CN200460|Orphanet:180202	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0015857	biolink:Disease	obsolete rare non-malformative gynecologic or obstetric disease		Orphanet:180199|UMLS:CN200458	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015857	Orphanet:180199|UMLS:CN200458	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0015856	biolink:Disease	syndromic breast hypoplasia/aplasia		UMLS:CN226755|Orphanet:180193	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015856	UMLS:CN226755|Orphanet:180193	disease_grouping|ordo_group_of_disorders
ENVO:00000309	biolink:NamedThing	depression	A landform sunken or depressed below the surrounding area.		mondo.json	non tidal basin|barrier basin|pan|pan (geologic)|depression|pans|tidal basin	http://purl.obolibrary.org/obo/ENVO_00000309		
MONDO:0015855	biolink:Disease	isolated congenital breast hypoplasia/aplasia		Orphanet:180188|OMIMPS:113700	mondo.json	isolated congenital amastia|breasts and/or nipples, aplasia or hypoplasia of	http://purl.obolibrary.org/obo/MONDO_0015855	Orphanet:180188|https://omim.org/phenotypicSeries/PS113700	ordo_morphological_anomaly
ENVO:00000304	biolink:NamedThing	shore	That part of the land in immediate contact with a body of water including the area between high and low water lines.		mondo.json	seashore|beach face|inshore|strand|shoreface|coastal zone|shore|SHORE|foreshore|rivage	http://purl.obolibrary.org/obo/ENVO_00000304		
NCBITaxon:1350	biolink:OrganismalEntity	Enterococcus		PMID:8427810|PMID:9103648|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1350		
NCBITaxon:1351	biolink:OrganismalEntity	Enterococcus faecalis		GC_ID:11	mondo.json	Streptococcus glycerinaceus|Enterocoque|Micrococcus ovalis|Streptococcus faecalis|Micrococcus zymogenes|Enterococcus proteiformis|Streptococcus liquefaciens	http://purl.obolibrary.org/obo/NCBITaxon_1351		
MONDO:0015850	biolink:Disease	transverse vaginal septum		ICD10CM:Q52.11|Orphanet:180160|HP:0000145	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015850	Orphanet:180160|http://purl.bioontology.org/ontology/ICD10CM/Q52.11	ordo_clinical_subtype
MONDO:0003858	biolink:Disease	anterior optic tract meningioma	A meningioma that affects the anterior visual pathway.	NCIT:C7538|UMLS:C1332308|DOID:6334	mondo.json	anterior visual pathway meningioma	http://purl.obolibrary.org/obo/MONDO_0003858	DOID:6334|UMLS:C1332308|NCIT:C7538	
MONDO:0003859	biolink:Disease	bilateral meningioma of optic nerve	Meningiomas that affects both optic nerves.	NCIT:C5304|DOID:6335|UMLS:C1332551	mondo.json	bilateral optic nerve meningioma|bilateral meningioma of the optic nerve	http://purl.obolibrary.org/obo/MONDO_0003859	NCIT:C5304|DOID:6335|UMLS:C1332551	
ENVO:00000300	biolink:NamedThing	scrubland area	Area covered with low-growing or stunted perennial vegetation and usually not mixed with trees.		mondo.json	bush|heath|shrubland|scrub|scrubland|chaparal area	http://purl.obolibrary.org/obo/ENVO_00000300		
MONDO:0003876	biolink:Disease	eyelid carcinoma	A carcinoma that arises from epithelial cells of the eyelid.	NCIT:C6078|DOID:6425|UMLS:C0920196	mondo.json	carcinoma of eyelid|eyelid carcinoma|carcinoma of the eyelid	http://purl.obolibrary.org/obo/MONDO_0003876	DOID:6425|UMLS:C0920196|NCIT:C6078	
MONDO:0001213	biolink:Disease	serous glue ear	Chronic form of serous otitis media.	ICD9:381.1|DOID:11181|ICD9:381.10|ICD9:381.19|UMLS:C0155421|SCTID:81564005	mondo.json	chronic secretory otitis media, serous|chronic serous otitis media|serous otitis media, chronic	http://purl.obolibrary.org/obo/MONDO_0001213	DOID:11181|UMLS:C0155421|http://identifiers.org/snomedct/81564005	
MONDO:0001212	biolink:Disease	non-suppurative otitis media	A otitis media which involves transudation of fluid in the middle ear without pus formation.	UMLS:C0271446|DOID:11180|ICD9:381.4|SCTID:275481002	mondo.json	nonsuppurative otitis media	http://purl.obolibrary.org/obo/MONDO_0001212	UMLS:C0271446|http://identifiers.org/snomedct/275481002|DOID:11180	
CHEBI:23004	biolink:ChemicalSubstance	carbamoyl group	The univalent carboacyl group formed by loss of -OH from the carboxy group of carbamic acid.		mondo.json	-CONH2|aminocarbonyl|carbamoyl|carbamyl|carbamyl group|-C(O)NH2|carboxamide	http://purl.obolibrary.org/obo/CHEBI_23004		
MONDO:0003877	biolink:Disease	obsolete cervical adenoid basal carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003877		
MONDO:0003878	biolink:Disease	malignant choroid melanoma	A uveal melanoma that arises from the choroid. It is the most common primary malignant intraocular tumor. It usually affects Caucasians of northern European descent. It usually remains asymptomatic for a long period. When signs and symptoms occur, they include blurred vision, visual field loss, floaters, and ocular pain. Tumor size is the most important factor that relates to prognosis.	NCIT:C4561|DOID:6438|SCTID:255021005|UMLS:C0346388	mondo.json	melanoma of the choroid|optic choroid melanoma|melanoma of choroid|malignant melanoma of the choroid|malignant melanoma of choroid|choroidal melanoma|melanoma (disease) of optic choroid|choroid malignant melanoma|choroid melanoma|optic choroid melanoma (disease)	http://purl.obolibrary.org/obo/MONDO_0003878	DOID:6438|http://identifiers.org/snomedct/255021005|NCIT:C4561|UMLS:C0346388	
MONDO:0001211	biolink:Disease	total internal ophthalmoplegia		UMLS:C0152197|ICD9:367.52|SCTID:86266009|DOID:11177	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001211	DOID:11177|http://identifiers.org/snomedct/86266009|UMLS:C0152197	
MONDO:0001210	biolink:Disease	enophthalmos	Abnormal recession of the eyeball within the eye socket.	SCTID:80093006|HP:0000490|UMLS:C0014306|ICD9:376.50|MESH:D015841|DOID:11175|ICD9:376.5	mondo.json	enophthalmos|enophthalmos (disease)	http://purl.obolibrary.org/obo/MONDO_0001210	UMLS:C0014306|http://identifiers.org/mesh/D015841|DOID:11175|http://identifiers.org/snomedct/80093006	
MONDO:0003879	biolink:Disease	ovarian endometrioid adenocarcinofibroma	A malignant neoplasm of the ovary characterized by the presence of malignant glandular cells resembling endometrial cells in a fibrotic stroma.	NCIT:C40060|DOID:6445|UMLS:C1518711|ICDO:8381/3	mondo.json	ovarian endometrioid adenocarcinofibroma|ovarian endometrioid malignant adenofibroma	http://purl.obolibrary.org/obo/MONDO_0003879	NCIT:C40060|DOID:6445|UMLS:C1518711	
MONDO:0001217	biolink:Disease	pseudomembranous conjunctivitis	Conjunctivitis that is characterized by formation of a pseudomembrane.	ICD9:372.04|UMLS:C0155144|NCIT:C35196|SCTID:72115001|DOID:11190|GARD:0008446	mondo.json	conjunctivitis with pseudomembrane	http://purl.obolibrary.org/obo/MONDO_0001217	NCIT:C35196|http://identifiers.org/snomedct/72115001|UMLS:C0155144|DOID:11190	gard_rare
MONDO:0003872	biolink:Disease	ovarian papillary cystadenoma	A serous cystadenoma of the ovary characterized by the presence of small papillary projections in the inner surface of the cysts.	DOID:6405|UMLS:C1335175|NCIT:C7278	mondo.json	ovarian papillary cystadenoma	http://purl.obolibrary.org/obo/MONDO_0003872	NCIT:C7278|UMLS:C1335175|DOID:6405	
MONDO:0003873	biolink:Disease	ovarian surface papilloma	A benign serous neoplasm characterized by the presence of papillary proliferations on the surface of the ovary.	DOID:6407|NCIT:C7279|UMLS:C1335183	mondo.json	ovarian surface papilloma	http://purl.obolibrary.org/obo/MONDO_0003873	DOID:6407|NCIT:C7279|UMLS:C1335183	
MONDO:0001216	biolink:Disease	pulp degeneration	Deterioration of the normal pulp tissue.	ICD10CM:K04.2|UMLS:C0034100|SCTID:22361007|ICD9:522.2|DOID:11189	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001216	http://purl.bioontology.org/ontology/ICD10CM/K04.2|UMLS:C0034100|DOID:11189|http://identifiers.org/snomedct/22361007	
MONDO:0003874	biolink:Disease	ovarian serous surface papillary adenocarcinoma	A serous adenocarcinoma that arises from the ovary and is characterized by the presence of a papillary architectural pattern.	DOID:6408|NCIT:C6256|UMLS:C1335178	mondo.json	ovary papillary carcinoma|serous surface papillary carcinoma of ovary|ovarian serous surface papillary adenocarcinoma|serous surface papillary carcinoma of the ovary	http://purl.obolibrary.org/obo/MONDO_0003874	DOID:6408|NCIT:C6256|UMLS:C1335178	
MONDO:0001215	biolink:Disease	allescheriosis	A primary systemic mycosis that results in systemic fungal infection, has material basis in Pseudallescheria boydii, which results in formation of abscesses.	DOID:11186|ICD9:117.6|SCTID:80936003|UMLS:C0153285	mondo.json	Petriellidosis	http://purl.obolibrary.org/obo/MONDO_0001215	http://identifiers.org/snomedct/80936003|DOID:11186|UMLS:C0153285	
MONDO:0001214	biolink:Disease	acute conjunctivitis	Acute inflammation of the conjunctiva.	DOID:11184|SCTID:53726008|ICD9:372.00|UMLS:C0155141|NCIT:C35195|ICD9:372.03	mondo.json	acute conjunctivitis (disease)|conjunctivitis (disease), acute	http://purl.obolibrary.org/obo/MONDO_0001214	NCIT:C35195|http://identifiers.org/snomedct/53726008|UMLS:C0155141|DOID:11184	
MONDO:0003875	biolink:Disease	childhood central nervous system mature teratoma	A mature teratoma that arises from the central nervous system during childhood.	UMLS:C1332955|DOID:6423|NCIT:C27404	mondo.json	childhood central nervous system mature teratoma|central nervous system mature teratoma of childhood|pediatric central nervous system mature teratoma	http://purl.obolibrary.org/obo/MONDO_0003875	DOID:6423|UMLS:C1332955|NCIT:C27404	
UBERON:0012475	biolink:AnatomicalEntity	skeleton of pectoral complex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012475		
MONDO:0015839	biolink:Disease	septate uterus		Orphanet:180122|MedDRA:10062606|SCTID:22504001	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015839	Orphanet:180122|http://identifiers.org/snomedct/22504001	ordo_group_of_disorders|disease_grouping
MONDO:0015838	biolink:Disease	cordiform uterus		SCTID:14689000|Orphanet:180118	mondo.json	uterus arcuatus|uterus cordiformis	http://purl.obolibrary.org/obo/MONDO_0015838	Orphanet:180118|http://identifiers.org/snomedct/14689000	ordo_morphological_anomaly
MONDO:0003870	biolink:Disease	childhood brainstem astrocytoma	An astrocytoma that arises from the brain stem and occurs during childhood.	DOID:6386|NCIT:C6216|UMLS:C1332950	mondo.json	pediatric brain stem astrocytic neoplasm|brain stem astrocytic neoplasm of childhood|childhood brain stem astrocytic neoplasm|childhood brain stem astrocytoma|childhood brainstem astrocytoma	http://purl.obolibrary.org/obo/MONDO_0003870	UMLS:C1332950|NCIT:C6216|DOID:6386	
MONDO:0015837	biolink:Disease	Unicervical bicornuate uterus		Orphanet:180114	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015837	Orphanet:180114	ordo_group_of_disorders|disease_grouping
MONDO:0003871	biolink:Disease	obsolete metanephric adenoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003871		
UBERON:0012478	biolink:AnatomicalEntity	cloacal gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012478		
UBERON:0012477	biolink:AnatomicalEntity	dorsal part of neck			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012477		
UBERON:0012476	biolink:AnatomicalEntity	skeleton of pelvic complex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012476		
MONDO:0015843	biolink:Disease	uterine hypoplasia		MedDRA:10063146|Orphanet:180139	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015843	Orphanet:180139	ordo_morphological_anomaly
MONDO:0015842	biolink:Disease	bicornuate uterus		Orphanet:180134|SCTID:31401003|MedDRA:10004550	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015842	Orphanet:180134|http://identifiers.org/snomedct/31401003	disease_grouping|ordo_group_of_disorders
UBERON:0000490	biolink:AnatomicalEntity	unilaminar epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000490		
MONDO:0015841	biolink:Disease	partial septate uterus	Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated.	Orphanet:180129|SCTID:5364006	mondo.json	uterus subseptus|subtotal septate uterus	http://purl.obolibrary.org/obo/MONDO_0015841	http://identifiers.org/snomedct/5364006|Orphanet:180129	ordo_morphological_anomaly
UBERON:0012469	biolink:AnatomicalEntity	external anal region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012469		
MONDO:0015840	biolink:Disease	complete septate uterus	Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhoea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent.	Orphanet:180126	mondo.json	total septate uterus	http://purl.obolibrary.org/obo/MONDO_0015840	Orphanet:180126	ordo_morphological_anomaly
MONDO:0015847	biolink:Disease	obsolete rare vaginal malformation		Orphanet:180151|UMLS:CN226752	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015847	UMLS:CN226752|Orphanet:180151	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0015846	biolink:Disease	syndromic uterovaginal malformation	A uterovaginal malformation that is part of a larger syndrome.	UMLS:CN226751|Orphanet:180148	mondo.json	syndrome associated with uterovaginal malformation|syndromic uterovaginal malformation	http://purl.obolibrary.org/obo/MONDO_0015846	Orphanet:180148|UMLS:CN226751	ordo_group_of_disorders|disease_grouping
MONDO:0015845	biolink:Disease	uterine cervical aplasia and agenesis		Orphanet:180145	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015845	Orphanet:180145	ordo_morphological_anomaly
MONDO:0015844	biolink:Disease	agenesis and aplasia of uterine body		Orphanet:180142	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015844	Orphanet:180142	ordo_morphological_anomaly
HGNC:7372	biolink:NamedThing	MSMB			mondo.json		http://identifiers.org/hgnc/7372		
MONDO:0001209	biolink:Disease	common wart	A wart caused by human papillomavirus. It can appear anywhere on the skin.	ICD9:078.10|NCIT:C27087|DOID:11165|ICD9:078.19|UMLS:C0043037|MESH:D014860|ICD9:078.1|SCTID:57019003	mondo.json	viral Warts due to papilloma virus|wart|common wart|verruca vulgaris|viral wart|viral Warts	http://purl.obolibrary.org/obo/MONDO_0001209	UMLS:C0043037|http://identifiers.org/mesh/D014860|http://identifiers.org/snomedct/57019003|NCIT:C27087|DOID:11165	
MONDO:0001208	biolink:Disease	acute respiratory failure	Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock.	ICD9:518.81|SCTID:65710008|NCIT:C27043|UMLS:C0264490	mondo.json	acute respiratory failure|respiratory failure, acute	http://purl.obolibrary.org/obo/MONDO_0001208	http://identifiers.org/snomedct/65710008|UMLS:C0264490|NCIT:C27043	
MONDO:0001207	biolink:Disease	neonatal respiratory failure		ICD10CM:P28.5|SCTID:95619009|DOID:11161|UMLS:C0521648|ICD9:770.84	mondo.json	respiratory failure of newborn	http://purl.obolibrary.org/obo/MONDO_0001207	UMLS:C0521648|http://purl.bioontology.org/ontology/ICD10CM/P28.5|DOID:11161|http://identifiers.org/snomedct/95619009	
HGNC:7373	biolink:NamedThing	MSN			mondo.json		http://identifiers.org/hgnc/7373		
MONDO:0003869	biolink:Disease	childhood brain stem glioma	An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly in the first two decades of life.	DOID:6383|NCIT:C9042|UMLS:C0278600|GARD:0009306	mondo.json	childhood brain stem glioma|pediatric brain stem glioma|childhood glioma of brain stem|childhood glioma of the brain stem|pediatric brainstem glioma|brain stem glioma|childhood glioma of the brainstem|childhood glioma of brainstem|brain stem glioma of childhood|pediatric glioma of the brainstem|pediatric glioma of brain stem|pediatric glioma of the brain stem|childhood brainstem glioma|pediatric glioma of brainstem	http://purl.obolibrary.org/obo/MONDO_0003869	DOID:6383|NCIT:C9042|UMLS:C0278600	gard_rare
HGNC:7376	biolink:NamedThing	MSR1			mondo.json		http://identifiers.org/hgnc/7376		
MONDO:0003843	biolink:Disease	cerebral hemisphere lipoma	A rare benign adipose tissue neoplasm within the cerebral hemisphere often associated with partial or complete agenesis of the corpus callosum.	DOID:6291|NCIT:C6220|UMLS:C1332907	mondo.json	cerebral hemisphere lipoma|lipoma of the cerebral hemisphere|lipoma of cerebral hemisphere	http://purl.obolibrary.org/obo/MONDO_0003843	DOID:6291|UMLS:C1332907|NCIT:C6220	
MONDO:0003844	biolink:Disease	central nervous system lipoma	A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels.	DOID:6293|NCIT:C5451|UMLS:C1332885	mondo.json	CNS lipoma|lipoma of the CNS|lipoma of central nervous system|lipoma of the central nervous system|central nervous system lipoma|lipoma of CNS	http://purl.obolibrary.org/obo/MONDO_0003844	NCIT:C5451|DOID:6293|UMLS:C1332885	
MONDO:0003845	biolink:Disease	corpus callosum lipoma	A rare benign adipose tissue neoplasm of the corpus callosum.	UMLS:C1333160|DOID:6294|NCIT:C5438	mondo.json	lipoma of the corpus callosum|corpus callosum lipoma|lipoma of corpus callosum	http://purl.obolibrary.org/obo/MONDO_0003845	NCIT:C5438|UMLS:C1333160|DOID:6294	
MONDO:0003846	biolink:Disease	viral esophagitis	Viral infection of the esophagus. It often occurs in immunocompromised patients and it is caused by cytomegalovirus or herpes simplex virus. Symptoms include pain on swallowing, fever, and retrosternal burning.	SCTID:235603003|DOID:6297|NCIT:C27108|UMLS:C0341110	mondo.json	Viruses caused esophagitis (disease)|viral esophagitis|Viruses esophagitis (disease)	http://purl.obolibrary.org/obo/MONDO_0003846	DOID:6297|http://identifiers.org/snomedct/235603003|UMLS:C0341110|NCIT:C27108	
UBERON:0000479	biolink:AnatomicalEntity	tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000479		
MONDO:0003840	biolink:Disease	epicardium lipoma	A rare benign adipose tissue neoplasm of the epicardium of the heart.	UMLS:C1333411|DOID:6284|NCIT:C6742	mondo.json	lipoma of the epicardium|epicardial lipoma|epicardium lipoma|lipoma of epicardium	http://purl.obolibrary.org/obo/MONDO_0003840	DOID:6284|UMLS:C1333411|NCIT:C6742	
MONDO:0003841	biolink:Disease	heart lipoma	A rare benign adipose tissue neoplasm of the heart usually originating in the epicardial or pericardial fatty tissue.	DOID:6285|UMLS:C1332849|NCIT:C6741	mondo.json	Cardiac lipoma|heart lipoma|lipoma of heart|lipoma of the heart	http://purl.obolibrary.org/obo/MONDO_0003841	DOID:6285|UMLS:C1332849|NCIT:C6741	
HGNC:7381	biolink:NamedThing	MST1R			mondo.json		http://identifiers.org/hgnc/7381		
MONDO:0003842	biolink:Disease	childhood cerebellar astrocytic neoplasm	Benign and malignant astrocytomas that arise from astrocytes in the cerebellum. More than 80% of childhood cerebellar astrocytomas are pilocytic astrocytomas which have a favorable prognosis. The remainder are composed of diffuse or fibrillary subtypes with malignant astrocytomas occurring only rarely in the cerebellum during childhood.	DOID:6286|UMLS:C0278594|GARD:0009301|NCIT:C6286	mondo.json	cerebellar astrocytoma, childhood|cerebellum juvenile astrocytoma|childhood astrocytoma of cerebellum|childhood cerebellar astrocytoma|childhood astrocytoma of the cerebellum|pediatric astrocytoma of cerebellum|cerebellar astrocytoma|cerebellum childhood astrocytic tumor|pediatric cerebellar astrocytoma|pediatric astrocytoma of the cerebellum|childhood astrocytic tumor of cerebellum	http://purl.obolibrary.org/obo/MONDO_0003842	DOID:6286|UMLS:C0278594|NCIT:C6286	
MONDO:0015829	biolink:Disease	non-syndromic uterovaginal malformation	A uterovaginal malformation that is not part of a larger syndrome.	Orphanet:180065	mondo.json	isolated uterovaginal malformation|nonsyndromic uterovaginal malformation	http://purl.obolibrary.org/obo/MONDO_0015829	Orphanet:180065	disease_grouping|ordo_group_of_disorders
UBERON:0012464	biolink:AnatomicalEntity	cloacal vent			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012464		
UBERON:0012463	biolink:AnatomicalEntity	cloacal lumen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012463		
MONDO:0015828	biolink:Disease	uterovaginal malformation		Orphanet:180062	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015828	Orphanet:180062	disease_grouping|ordo_group_of_disorders
MONDO:0015827	biolink:Disease	distal renal tubular acidosis	Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia.	ICD9:588.89|SCTID:236461000|Orphanet:18|OMIMPS:179800|MedDRA:10045224|HP:0008341|GARD:0004667	mondo.json	classic RTA|renal tubular acidosis, distal|renal tubular acidosis type 1|distal renal tubular acidosis|dRTA|distal renal tubular acidosis (disease)|familial distal primary acidosis	http://purl.obolibrary.org/obo/MONDO_0015827	http://identifiers.org/snomedct/236461000|Orphanet:18|https://omim.org/phenotypicSeries/PS179800	ordo_disease
MONDO:0015826	biolink:Disease	autosomal dominant spondylocostal dysostosis	Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.	SCTID:716232002|OMIM:122600|UMLS:C4274761|UMLS:CN200437|Orphanet:1797	mondo.json	autosomal dominant spondylocostal dysplasia|spondylocostal dysostosis, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0015826	UMLS:C4274761|http://identifiers.org/snomedct/716232002|UMLS:CN200437|Orphanet:1797	ordo_malformation_syndrome
CL:1000317	biolink:Cell	intestinal villus goblet cell	A goblet cell that is part of the epithelium of intestinal villus.	FMA:263046	mondo.json	goblet cell of epithelium of intestinal villus	http://purl.obolibrary.org/obo/CL_1000317		
UBERON:0012468	biolink:AnatomicalEntity	anal tooth			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012468		
UBERON:0012467	biolink:AnatomicalEntity	enclosed anatomical space			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012467		
CL:1000314	biolink:Cell	gastric cardiac gland goblet cell	A goblet cell that is part of the epithelium of gastric cardiac gland.	FMA:263038	mondo.json	goblet cell of epithelium of gastric cardiac gland	http://purl.obolibrary.org/obo/CL_1000314		
UBERON:0012466	biolink:AnatomicalEntity	extraembryonic cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012466		
CL:1000313	biolink:Cell	gastric goblet cell	A goblet cell that is part of the epithelium of stomach.	FMA:263035	mondo.json	goblet cell of epithelium of stomach	http://purl.obolibrary.org/obo/CL_1000313		
UBERON:0012465	biolink:AnatomicalEntity	lumen of terminal part of digestive tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012465		
MONDO:0015832	biolink:Disease	true unicornuate uterus	True unicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated.	Orphanet:180074	mondo.json	complete unilateral Mullerian aplasia|complete unilateral aplasia of the Mullerian ducts|unicornuate uterus without rudimentary horn|complete unilateral Müllerian aplasia|complete unilateral aplasia of the Müllerian ducts	http://purl.obolibrary.org/obo/MONDO_0015832	Orphanet:180074	ordo_morphological_anomaly
CL:1000312	biolink:Cell	bronchial goblet cell	A goblet cell that is part of the epithelium of bronchus.	FMA:263032	mondo.json	goblet cell of epithelium of bronchus	http://purl.obolibrary.org/obo/CL_1000312		
CL:1000311	biolink:Cell	adipocyte of epicardial fat of left ventricle	A fat cell that is part of the epicardial fat of left ventricle.	FMA:261300	mondo.json	epicardial fat cell of left ventricle|epicardial adipocyte of left ventricle	http://purl.obolibrary.org/obo/CL_1000311		
MONDO:0015831	biolink:Disease	unilateral aplasia of the mullerian ducts		Orphanet:180071	mondo.json	unicornuate uterus|unilateral aplasia of the Müllerian ducts	http://purl.obolibrary.org/obo/MONDO_0015831	Orphanet:180071	ordo_group_of_disorders|disease_grouping
MONDO:0015830	biolink:Disease	partial bilateral aplasia of the mullerian ducts		Orphanet:180068	mondo.json	incomplete bilateral aplasia of the Müllerian ducts|partial bilateral aplasia of the Müllerian ducts|incomplete bilateral aplasia of the Mullerian ducts	http://purl.obolibrary.org/obo/MONDO_0015830	Orphanet:180068	disease_grouping|ordo_group_of_disorders
CL:1000310	biolink:Cell	adipocyte of epicardial fat of right ventricle	A fat cell that is part of the epicardial fat of right ventricle.	FMA:261297	mondo.json	epicardial adipocyte of right ventricle|epicardial fat cell of right ventricle	http://purl.obolibrary.org/obo/CL_1000310		
FOODON:03420279	biolink:NamedThing	obsolete: pollen			mondo.json		http://purl.obolibrary.org/obo/FOODON_03420279		
UBERON:0000481	biolink:AnatomicalEntity	multi-tissue structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000481		
MONDO:0015836	biolink:Disease	Bicervical bicornuate uterus with patent cervix and vagina		Orphanet:180111	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015836	Orphanet:180111	ordo_clinical_subtype
MONDO:0015835	biolink:Disease	Bicervical bicornuate uterus and blind hemivagina		Orphanet:180106	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015835	Orphanet:180106	ordo_clinical_subtype
MONDO:0015834	biolink:Disease	didelphys uterus		SCTID:15545001|Orphanet:180086|ICD9:752.2|MedDRA:10012770	mondo.json	Bicervical bicornuate uterus	http://purl.obolibrary.org/obo/MONDO_0015834	Orphanet:180086|http://identifiers.org/snomedct/15545001	ordo_morphological_anomaly
MONDO:0015833	biolink:Disease	pseudounicornuate uterus	Pseudounicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated.	Orphanet:180079	mondo.json	incomplete unilateral Mullerian aplasia|unicornuate uterus with rudimentary horn|incomplete unilateral Müllerian aplasia|incomplete unilateral aplasia of the Mullerian ducts|incomplete unilateral aplasia of the Müllerian ducts	http://purl.obolibrary.org/obo/MONDO_0015833	Orphanet:180079	ordo_morphological_anomaly
UBERON:0000486	biolink:AnatomicalEntity	multilaminar epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000486		
UBERON:0000487	biolink:AnatomicalEntity	simple squamous epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000487		
UBERON:0000488	biolink:AnatomicalEntity	atypical epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000488		
NCIT:C15290	biolink:NamedThing	Ostomy			mondo.json		http://purl.obolibrary.org/obo/NCIT_C15290		
UBERON:0000489	biolink:AnatomicalEntity	cavitated compound organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000489		
MONDO:0003836	biolink:Disease	malignant thyroid stimulating hormone producing neoplasm of pituitary gland	A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces thyrotropin.	UMLS:C1334627|DOID:6274|NCIT:C5965	mondo.json	malignant thyroid stimulating hormone producing neoplasm of the pituitary gland|malignant thyroid stimulating hormone secreting tumor of pituitary|malignant TSH producing tumor of pituitary|malignant thyroid stimulating hormone producing neoplasm of pituitary gland|malignant thyrotropinoma|malignant thyroid stimulating hormone producing pituitary neoplasm|malignant thyroid stimulating hormone producing neoplasm of the pituitary|malignant TSH secreting tumor of the pituitary gland|malignant thyroid stimulating hormone producing pituitary gland tumor|malignant TSH secreting tumor of pituitary gland|malignant thyroid stimulating hormone producing neoplasm of pituitary|malignant thyroid stimulating hormone producing pituitary tumor|malignant thyroid stimulating hormone producing pituitary gland neoplasm|malignant TSH secreting tumor of the pituitary|malignant TSH secreting tumor of pituitary|malignant TSH secreting neoplasm of the pituitary gland|malignant thyroid stimulating hormone producing tumor|malignant thyrotropinoma of the pituitary gland|malignant TSH secreting neoplasm of pituitary gland|malignant TSH producing pituitary neoplasm|malignant thyroid stimulating hormone secreting pituitary neoplasm|malignant TSH secreting neoplasm of the pituitary|malignant thyrotropinoma of pituitary gland|malignant TSH secreting pituitary gland tumor|malignant thyroid stimulating hormone producing tumor of the pituitary gland|malignant TSH secreting neoplasm of pituitary|malignant thyroid stimulating hormone secreting pituitary gland neoplasm|malignant TSH producing pituitary gland neoplasm|malignant thyrotropinoma of the pituitary|malignant thyroid stimulating hormone producing tumor of pituitary gland|TSH-producing pituitary gland carcinoma|malignant TSH secreting pituitary tumor|malignant thyroid stimulating hormone producing tumor of the pituitary|malignant thyrotropinoma of pituitary|malignant thyroid stimulating hormone secreting neoplasm of the pituitary gland|malignant TSH producing neoplasm of the pituitary gland|malignant thyroid stimulating hormone producing tumor of pituitary|malignant pituitary thyrotropinoma|TSH producing pituitary gland carcinoma|malignant TSH secreting pituitary neoplasm|malignant TSH producing neoplasm of pituitary gland|malignant thyroid stimulating hormone secreting neoplasm of pituitary gland|malignant TSH producing neoplasm of the pituitary|malignant TSH producing tumor of the pituitary gland|malignant pituitary gland thyrotropinoma|malignant thyroid stimulating hormone secreting pituitary gland tumor|malignant thyroid stimulating hormone secreting tumor of the pituitary gland|malignant TSH producing pituitary gland tumor|malignant thyroid stimulating hormone secreting neoplasm of the pituitary|malignant thyroid stimulating hormone secreting tumor of pituitary gland|malignant TSH producing tumor of pituitary gland|malignant TSH producing neoplasm of pituitary|malignant thyroid stimulating hormone secreting neoplasm of pituitary|malignant TSH secreting pituitary gland neoplasm|malignant thyroid stimulating hormone secreting tumor of the pituitary|thyrotropin producing pituitary gland carcinoma|malignant TSH producing tumor of the pituitary|malignant TSH producing pituitary tumor|malignant thyroid stimulating hormone secreting pituitary tumor	http://purl.obolibrary.org/obo/MONDO_0003836	NCIT:C5965|DOID:6274|UMLS:C1334627	
MONDO:0003837	biolink:Disease	TSH producing pituitary tumor	An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces thyrotropin.	NCIT:C7915|DOID:6275|SCTID:254959007|UMLS:C2362538	mondo.json	TSH producing neoplasm of the pituitary|thyroid stimulating hormone secreting pituitary gland tumor|thyroid stimulating hormone secreting neoplasm of the pituitary|TSH producing pituitary gland tumor|thyroid stimulating hormone producing tumor of pituitary|TSH producing neoplasm of pituitary|TSH-producing pituitary gland neoplasm|TSH secreting pituitary neoplasm|thyroid stimulating hormone secreting neoplasm of pituitary|TSH producing pituitary tumor|thyroid stimulating hormone secreting tumor of the pituitary gland|TSH secreting tumor of pituitary|TSH producing tumor of the pituitary gland|TSH-oma|thyroid stimulating hormone secreting pituitary tumor|thyroid stimulating hormone secreting tumor of pituitary gland|TSH secreting pituitary gland neoplasm|TSH producing tumor of pituitary gland|thyroid stimulating hormone producing neoplasm of the pituitary gland|thyroid stimulating hormone secreting tumor of the pituitary|TSH producing tumor of the pituitary|thyroid stimulating hormone producing neoplasm of pituitary gland|TSH producing tumor of pituitary|thyroid stimulating hormone producing neoplasm of the pituitary|thyroid stimulating hormone producing pituitary gland tumor|thyroid stimulating hormone secreting tumor of pituitary|TSH secreting adenoma of the pituitary|thyroid stimulating hormone producing neoplasm of pituitary|thyroid stimulating hormone producing pituitary tumor|thyroid stimulating hormone producing pituitary neoplasm|TSH secreting tumor of the pituitary gland|TSH secreting tumor of pituitary gland|thyroid stimulating hormone producing pituitary gland neoplasm|TSH secreting neoplasm of the pituitary gland|TSH secreting tumor of the pituitary|thyrotroph adenoma|TSH secreting neoplasm of pituitary gland|TSH secreting pituitary gland tumor|TSH secreting neoplasm of the pituitary|thyroid stimulating hormone producing tumour|thyrotropin producing pituitary gland neoplasm|thyrotropin-secreting pituitary adenoma|TSH producing pituitary neoplasm|thyroid stimulating hormone secreting pituitary neoplasm|TSH secreting neoplasm of pituitary|TSH-producing pituitary gland tumor|thyroid stimulating hormone producing tumor of the pituitary gland|TSH secreting pituitary tumor|thyroid stimulating hormone producing tumor of pituitary gland|TSH producing neoplasm of the pituitary gland|TSH producing pituitary gland neoplasm|thyroid stimulating hormone secreting neoplasm of the pituitary gland|thyroid stimulating hormone secreting pituitary gland neoplasm|TSH producing neoplasm of pituitary gland|thyroid stimulating hormone producing tumor of the pituitary|thyroid stimulating hormone secreting neoplasm of pituitary gland	http://purl.obolibrary.org/obo/MONDO_0003837	NCIT:C7915|http://identifiers.org/snomedct/254959007|DOID:6275|UMLS:C2362538	
UBERON:0000483	biolink:AnatomicalEntity	epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000483		
UBERON:0000484	biolink:AnatomicalEntity	simple cuboidal epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000484		
MONDO:0003838	biolink:Disease	obsolete malignant ACTH producing neoplasm of pituitary gland			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003838		
UBERON:0000485	biolink:AnatomicalEntity	simple columnar epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000485		
MONDO:0003839	biolink:Disease	ovarian mucinous adenocarcinofibroma	A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells with intracytoplasmic mucin. Cystic spaces are also present which contain mucoid material.	DOID:6278|ICDO:9015/3|UMLS:C2212014|NCIT:C40034	mondo.json	ovarian mucinous adenocarcinofibroma|ovarian mucinous malignant adenofibroma	http://purl.obolibrary.org/obo/MONDO_0003839	NCIT:C40034|DOID:6278|UMLS:C2212014	
MONDO:0003854	biolink:Disease	obsolete tibial adamantinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003854		
MONDO:0003855	biolink:Disease	obsolete immature teratoma of ovary			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003855		
MONDO:0003856	biolink:Disease	adult malignant hemangiopericytoma	A malignant hemangiopericytoma occurring in the adult population.	NCIT:C7946|UMLS:C0279547|DOID:6332	mondo.json	hemangiopericytoma, malignant of adults|adult hemangiopericytoma, malignant|malignant adult hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0003856	DOID:6332|UMLS:C0279547|NCIT:C7946	
MONDO:0003857	biolink:Disease	adult intracranial malignant hemangiopericytoma	A solitary fibrous tumor/hemangiopericytoma, grade 3 that arises from the brain and occurs in the adult population.	NCIT:C9183|UMLS:C1334558|UMLS:C4331858|DOID:6333	mondo.json	malignant adult intracranial hemangiopericytoma|adult intracranial solitary fibrous tumor/hemangiopericytoma, grade 3|adult malignant intracranial hemangiopericytoma|adult intracranial anaplastic hemangiopericytoma|central nervous system solitary fibrous tumor/hemangiopericytoma, grade 3	http://purl.obolibrary.org/obo/MONDO_0003857	UMLS:C1334558|DOID:6333|NCIT:C9183|UMLS:C4331858	
OBO:ExO_0000001	biolink:NamedThing	exposure_receptor	An entity (e.g., a human, human population, or a human organ) that interacts with an exposure stressor during an exposure event.		mondo.json		http://purl.obolibrary.org/obo/ExO_0000001		
MONDO:0003850	biolink:Disease	clivus chondroid chordoma	A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, the presence of physaliphorous cells and cartilage.	UMLS:C1333072|DOID:6313|NCIT:C5426	mondo.json	chondroid chordoma of clivus|clivus of occipital bone chondroid chordoma|chondroid chordoma of the clivus|chondroid chordoma of clivus of occipital bone	http://purl.obolibrary.org/obo/MONDO_0003850	UMLS:C1333072|DOID:6313|NCIT:C5426	
UBERON:0000468	biolink:AnatomicalEntity	multicellular organism	Anatomical structure that is an individual member of a species and consists of more than one cell.		mondo.json	Koerper|organism|whole body|whole organism|multi-cellular organism|organism|animal|body|whole organism	http://purl.obolibrary.org/obo/UBERON_0000468		
OBO:ExO_0000002	biolink:NamedThing	exposure event	An interaction between an exposure stressor and an exposure_receptor.		mondo.json		http://purl.obolibrary.org/obo/ExO_0000002		
MONDO:0003851	biolink:Disease	ovarian fetiform teratoma	A rare type of teratoma that arises from the ovary and resembles a malformed fetus.	NCIT:C39996|DOID:6314|UMLS:C1518715	mondo.json	homunculus|ovarian fetiform teratoma	http://purl.obolibrary.org/obo/MONDO_0003851	DOID:6314|UMLS:C1518715|NCIT:C39996	
HGNC:7392	biolink:NamedThing	MSX2			mondo.json		http://identifiers.org/hgnc/7392		
MONDO:0003852	biolink:Disease	ovarian solid teratoma	A mature teratoma that arises from the ovary and presents as a large solid mass. It contains multiple cysts that vary in size. Small foci of hemorrhage are also present.	NCIT:C7285|DOID:6315|UMLS:C1335181	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003852	DOID:6315|NCIT:C7285|UMLS:C1335181	
MONDO:0003853	biolink:Disease	Bartholin gland adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the major vestibular gland.	NCIT:C7719|DOID:6316|UMLS:C0238016	mondo.json	major vestibular gland adenocarcinoma|adenocarcinoma of the Bartholin's gland|Bartholin gland adenocarcinoma|adenocarcinoma of Bartholin's gland	http://purl.obolibrary.org/obo/MONDO_0003853	UMLS:C0238016|DOID:6316|NCIT:C7719	
HGNC:7391	biolink:NamedThing	MSX1			mondo.json		http://identifiers.org/hgnc/7391		
OBO:ExO_0000000	biolink:NamedThing	exposure stressor	An agent, stimulus, activity, or event that causes stress or tension on an organism and interacts with an exposure_receptor during an exposure event.		mondo.json		http://purl.obolibrary.org/obo/ExO_0000000		
CL:1000309	biolink:Cell	epicardial adipocyte	A fat cell that is part of the epicardial fat.	FMA:261293	mondo.json	adipocyte of epicardial fat|epicardial fat cell	http://purl.obolibrary.org/obo/CL_1000309		
MONDO:0015818	biolink:Disease	aggressive primary cutaneous B-cell lymphoma		Orphanet:178554	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015818	Orphanet:178554	disease_grouping|ordo_group_of_disorders
MONDO:0015817	biolink:Disease	aggressive primary cutaneous T-cell lymphoma		Orphanet:178551	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015817	Orphanet:178551	ordo_group_of_disorders|disease_grouping
MONDO:0015816	biolink:Disease	indolent primary cutaneous T-cell lymphoma		Orphanet:178548	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015816	Orphanet:178548	ordo_group_of_disorders|disease_grouping
CL:1000307	biolink:Cell	fibroblast of dense regular elastic tissue	A fibroblast that is part of the dense regular elastic tissue.	FMA:261287	mondo.json		http://purl.obolibrary.org/obo/CL_1000307		
MONDO:0015815	biolink:Disease	obsolete primary cutaneous diffuse large B-cell lymphoma, leg type			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015815		
CL:1000306	biolink:Cell	fibroblast of tunica adventitia of artery	A fibroblast that is part of the tunica adventitia of artery.	FMA:261285	mondo.json		http://purl.obolibrary.org/obo/CL_1000306		
CHEBI:60056	biolink:ChemicalSubstance	cocaine(1+)	The conjugate base of cocaine arising from protonation of the tertiary amino group; major species at pH 7.3.		mondo.json	cocaine cation|(1R,2R,3S,5S)-3-(benzoyloxy)-2-(methoxycarbonyl)-8-methyl-8-azoniabicyclo[3.2.1]octane|cocaine	http://purl.obolibrary.org/obo/CHEBI_60056		
CL:1000303	biolink:Cell	fibroblast of areolar connective tissue	A fibroblast that is part of the areolar connective tissue.	FMA:261279	mondo.json		http://purl.obolibrary.org/obo/CL_1000303		
MONDO:0015819	biolink:Disease	indolent primary cutaneous B-cell lymphoma		Orphanet:178557	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015819	Orphanet:178557	ordo_group_of_disorders|disease_grouping
MONDO:0015821	biolink:Disease	mycosis fungoides and variants	Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course.	Orphanet:178566|UMLS:CN226743	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015821	Orphanet:178566|UMLS:CN226743	disease_grouping|ordo_group_of_disorders
CHEBI:37622	biolink:ChemicalSubstance	carboxamide	An amide of a carboxylic acid, having the structure RC(=O)NR2. The term is used as a suffix in systematic name formation to denote the -C(=O)NH2 group including its carbon atom.		mondo.json	carboxamides|carboxamides|primary carboxamide	http://purl.obolibrary.org/obo/CHEBI_37622		
MONDO:0015820	biolink:Disease	primary cutaneous B-cell lymphoma		UMLS:C1274310|ICD9:202.80|Orphanet:178563|SCTID:402881008	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015820	http://identifiers.org/snomedct/402881008|UMLS:C1274310|Orphanet:178563	ordo_group_of_disorders|disease_grouping
MONDO:0015825	biolink:Disease	obsolete obesity due to congenital leptin resistance		Orphanet:179490	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015825	Orphanet:179490	ordo_group_of_disorders
MONDO:0015824	biolink:Disease	oculomaxillofacial dysostosis	Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.	UMLS:C1838348|GARD:0004046|SCTID:763830009|MESH:C537736|Orphanet:1794	mondo.json	oblique facial clefts|oculomaxillofacial dysplasia with oblique facial clefts|Richieri Costa Gorlin syndrome|Richieri-Costa-Gorlin syndrome	http://purl.obolibrary.org/obo/MONDO_0015824	http://identifiers.org/snomedct/763830009|Orphanet:1794|http://identifiers.org/mesh/C537736|UMLS:C1838348	gard_rare|ordo_malformation_syndrome
MONDO:0015823	biolink:Disease	primary immunodeficiency due to a defect in adaptive immunity		Orphanet:179006	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015823	Orphanet:179006	disease_grouping|ordo_group_of_disorders
MONDO:0015822	biolink:Disease	acquired neutropenia	An instance of neutropenia that is acquired during the lifetime of the individual.	Orphanet:178996	mondo.json	immunologic neutropenia|acquired neutropenia	http://purl.obolibrary.org/obo/MONDO_0015822	Orphanet:178996	disease_grouping|ordo_group_of_disorders
UBERON:0000475	biolink:AnatomicalEntity	organism subdivision			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000475		
UBERON:0000476	biolink:AnatomicalEntity	acellular anatomical structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000476		
CL:0002292	biolink:Cell	type I cell of carotid body	A round or oval neuroepithelial cell that contacts other type I cells or capillaries. They occur in clusters that are surrounded by sheath cells (type-II cells) in the carotid body. This cell type is capable of secreting a number of neurotransmitters.	FMA:84186	mondo.json	glomus cell	http://purl.obolibrary.org/obo/CL_0002292		
UBERON:0000477	biolink:AnatomicalEntity	anatomical cluster			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000477		
UBERON:0000478	biolink:AnatomicalEntity	extraembryonic structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000478		
MONDO:0003847	biolink:Disease	Mendelian disease	A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.	NCIT:C3101|EFO:0000508|DOID:630|UMLS:C0019247|ICD9:799.89|SCTID:32895009|MESH:D030342	mondo.json	hereditary disease|genetic disease|inherited genetic disease|hereditary diseases|molecular disease|genetic disorder|genetic condition|hereditary disease or disorder|inherited disease|inborn disorder|familial disorder	http://purl.obolibrary.org/obo/MONDO_0003847	NCIT:C3101|http://identifiers.org/mesh/D030342|DOID:630|UMLS:C0019247|http://identifiers.org/snomedct/32895009	harrisons_view
CL:0002294	biolink:Cell	type-1 epithelial cell of thymus	An epithelial cell with a well defined Golgi apparatus that makes up the continuous layer of cells bordering the thymic tissue beneath the capsule.	FMA:72209	mondo.json	subcapsular thymic epithelial cell	http://purl.obolibrary.org/obo/CL_0002294		
UBERON:0000471	biolink:AnatomicalEntity	compound organ component			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000471		
CL:0002293	biolink:Cell	epithelial cell of thymus	An epithelial cell of the thymus. Epithelial reticular cells are pleomorphic, stellate, non-phagocytic cells which seem to be supportive in function and are held together by desmosomes. They replace the fibroblastoid reticular cells found in other lymphoid organs. Other epithelial cells in the medulla have the ultrastructure of secretory cells. Although different epithelial cells throughout the thymus appear alike by light microscopy their ultrastructure and function varies.	CALOHA:TS-1040|FMA:72208	mondo.json	thymic epithelial cell|epithelial cell of thymus gland|epithelial reticular cell|epithelial reticular cell of thymus	http://purl.obolibrary.org/obo/CL_0002293		
MONDO:0003848	biolink:Disease	ectopic thymus	A condition in which the thymus gland is abnomally located; this can be secondary to failure of descent during fetal development, or failure of involution.	DOID:6307|UMLS:C1333375|NCIT:C27804	mondo.json	ectopic thymus	http://purl.obolibrary.org/obo/MONDO_0003848	NCIT:C27804|UMLS:C1333375|DOID:6307	
MONDO:0003849	biolink:Disease	clivus chordoma	A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.	DOID:6312|SCTID:446939001|ICD9:170.0|UMLS:C1333071|NCIT:C5412	mondo.json	chordoma of the clivus|clivus of occipital bone chordoma (disease)|chordoma (disease) of clivus of occipital bone|chordoma of clivus|clival chordoma	http://purl.obolibrary.org/obo/MONDO_0003849	NCIT:C5412|UMLS:C1333071|DOID:6312|http://identifiers.org/snomedct/446939001	
UBERON:0000473	biolink:AnatomicalEntity	testis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000473		
UBERON:0000474	biolink:AnatomicalEntity	female reproductive system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000474		
HGNC:119	biolink:NamedThing	ACOX1			mondo.json		http://identifiers.org/hgnc/119		
GO:0001775	biolink:NamedThing	cell activation	A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand.		mondo.json		http://purl.obolibrary.org/obo/GO_0001775		
GO:0098687	biolink:NamedThing	chromosomal region	Any subdivision of a chromosome along its length.		mondo.json	chromosome region	http://purl.obolibrary.org/obo/GO_0098687		
HGNC:118	biolink:NamedThing	ACO2			mondo.json		http://identifiers.org/hgnc/118		
NCBITaxon:1385	biolink:OrganismalEntity	Bacillales		GC_ID:11	mondo.json	Bacillus/Staphylococcus group|Caryophanales	http://purl.obolibrary.org/obo/NCBITaxon_1385		
NCBITaxon:1386	biolink:OrganismalEntity	Bacillus <firmicutes>		PMID:8138135|PMID:8863420|PMID:10843090|PMID:23475340|GC_ID:11|PMID:7727277|PMID:11491334|PMID:1742196|PMID:2223602	mondo.json	Bacillus rRNA group 1|Bacillus	http://purl.obolibrary.org/obo/NCBITaxon_1386		
GO:0001773	biolink:NamedThing	myeloid dendritic cell activation	The change in morphology and behavior of a dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor.		mondo.json		http://purl.obolibrary.org/obo/GO_0001773		
GO:0060073	biolink:NamedThing	micturition	The regulation of body fluids process in which parasympathetic nerves stimulate the bladder wall muscle to contract and expel urine from the body.		mondo.json	urine voiding|urination	http://purl.obolibrary.org/obo/GO_0060073		
CHR:9606-chr8p23.1	biolink:NamedThing	8p23.1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr8p23.1		
GO:0060078	biolink:NamedThing	regulation of postsynaptic membrane potential	Any process that modulates the potential difference across a post-synaptic membrane.		mondo.json	regulation of post-synaptic membrane potential	http://purl.obolibrary.org/obo/GO_0060078		
GO:0060079	biolink:NamedThing	excitatory postsynaptic potential	A process that leads to a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential.		mondo.json	regulation of excitatory post-synaptic membrane potential|regulation of EPSP	http://purl.obolibrary.org/obo/GO_0060079		
HGNC:9905	biolink:NamedThing	RBM8A			mondo.json		http://identifiers.org/hgnc/9905		
NCBITaxon:1392	biolink:OrganismalEntity	Bacillus anthracis		GC_ID:11|PMID:8123566	mondo.json	anthrax bacterium|Bacteridium anthracis|Bacillus cereus var. anthracis|anthrax	http://purl.obolibrary.org/obo/NCBITaxon_1392		
HGNC:129	biolink:NamedThing	ACTA1			mondo.json		http://identifiers.org/hgnc/129		
HGNC:124	biolink:NamedThing	ACP5			mondo.json		http://identifiers.org/hgnc/124		
HGNC:123	biolink:NamedThing	ACP2			mondo.json		http://identifiers.org/hgnc/123		
HGNC:120	biolink:NamedThing	ACOX2			mondo.json		http://identifiers.org/hgnc/120		
HGNC:9912	biolink:NamedThing	RBMY1A1			mondo.json		http://identifiers.org/hgnc/9912		
HGNC:9910	biolink:NamedThing	RBMX			mondo.json		http://identifiers.org/hgnc/9910		
NCBITaxon:72294	biolink:OrganismalEntity	Campylobacteraceae		PMID:29034857|GC_ID:11	mondo.json	Campylobacter group	http://purl.obolibrary.org/obo/NCBITaxon_72294		
NCBITaxon:72293	biolink:OrganismalEntity	Helicobacteraceae		PMID:29034857|GC_ID:11|PMID:16403855	mondo.json	Helicobacter group	http://purl.obolibrary.org/obo/NCBITaxon_72293		
GO:0098662	biolink:NamedThing	inorganic cation transmembrane transport	A process in which an inorganic cation is transported from one side of a membrane to the other by means of some agent such as a transporter or pore.		mondo.json	inorganic cation membrane transport|monovalent inorganic cation transport|divalent inorganic cation transport|transmembrane inorganic cation transport	http://purl.obolibrary.org/obo/GO_0098662		
GO:0001755	biolink:NamedThing	neural crest cell migration	The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo.		mondo.json		http://purl.obolibrary.org/obo/GO_0001755		
GO:0098660	biolink:NamedThing	inorganic ion transmembrane transport	The process in which an inorganic ion is transported across a membrane.		mondo.json	transmembrane inorganic ion transport|inorganic ion membrane transport	http://purl.obolibrary.org/obo/GO_0098660		
GO:0098661	biolink:NamedThing	inorganic anion transmembrane transport	The process in which an inorganic anion is transported across a membrane.		mondo.json	inorganic anion membrane transport|transmembrane inorganic anion transport	http://purl.obolibrary.org/obo/GO_0098661		
GO:0060090	biolink:NamedThing	molecular adaptor activity	The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way.		mondo.json	protein complex scaffold activity|binding, bridging|protein-containing complex scaffold activity	http://purl.obolibrary.org/obo/GO_0060090		
GO:0060097	biolink:NamedThing	cytoskeletal rearrangement involved in phagocytosis, engulfment	The assembly, arrangement, or disassembly of cytoskeletal structures that is involved in the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis.		mondo.json		http://purl.obolibrary.org/obo/GO_0060097		
GO:0060099	biolink:NamedThing	regulation of phagocytosis, engulfment	Any process that modulates the frequency, rate or extent of the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis.		mondo.json		http://purl.obolibrary.org/obo/GO_0060099		
HP:0009827	biolink:PhenotypicFeature	Amelia	Congenital absence (aplasia) of one or more limbs.	MSH:D004480|MEDDRA:10001926|SNOMEDCT_US:62588002|UMLS:C0002447	mondo.json		http://purl.obolibrary.org/obo/HP_0009827		hposlim_core
HGNC:9922	biolink:NamedThing	RBP4			mondo.json		http://identifiers.org/hgnc/9922		
HP:0009826	biolink:PhenotypicFeature	Limb undergrowth	Limb shortening because of underdevelopment of one or more bones of the extremities.	UMLS:C0239399	mondo.json	Limb undergrowth|limb shortening|Short limbs|Short limb|Hypoplasia involving bones of the extremities	http://purl.obolibrary.org/obo/HP_0009826		
HGNC:9921	biolink:NamedThing	RBP3			mondo.json		http://identifiers.org/hgnc/9921		
GO:0001763	biolink:NamedThing	morphogenesis of a branching structure	The process in which the anatomical structures of branches are generated and organized. A branch is a division or offshoot from a main stem. Examples in animals would include blood vessels, nerves, lymphatics and other endothelial or epithelial tubes.		mondo.json	branching morphogenesis	http://purl.obolibrary.org/obo/GO_0001763		
GO:0001764	biolink:NamedThing	neuron migration	The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature.		mondo.json	neuron guidance|neuron chemotaxis|neuronal migration	http://purl.obolibrary.org/obo/GO_0001764		
HGNC:105	biolink:NamedThing	CNNM4			mondo.json		http://identifiers.org/hgnc/105		
ENVO:21001216	biolink:NamedThing	ultraviolet radiation	A radiation process during which electromagnetic waves or their quanta are emitted at wavelengths between 10 nm and 400 nm.		mondo.json	UV radiation	http://purl.obolibrary.org/obo/ENVO_21001216		
HGNC:103	biolink:NamedThing	CNNM2			mondo.json		http://identifiers.org/hgnc/103		
ENVO:21001215	biolink:NamedThing	visible spectrum radiation	A radiation process during which electromagnetic waves or their quanta are emitted at wavelengths between 380 nm and 760 nm.		mondo.json	optical radiation|visible light	http://purl.obolibrary.org/obo/ENVO_21001215		
GO:0060082	biolink:NamedThing	eye blink reflex	The reflex process in which a mechanical stimulus applied to the eye elicits a response of the eyelid closing.		mondo.json	nictitating membrane reflex	http://purl.obolibrary.org/obo/GO_0060082		
GO:0060083	biolink:NamedThing	smooth muscle contraction involved in micturition	The process leading to shortening and/or development of tension in the urinary bladder smooth muscle tissue involved in the expulsion urine from the body.		mondo.json	urinary bladder smooth muscle contraction involved in micturition|smooth muscle contraction involved in urination	http://purl.obolibrary.org/obo/GO_0060083		
GO:0060084	biolink:NamedThing	synaptic transmission involved in micturition	The process of communication from a neuron to a smooth muscle in the bladder that contributes to the expulsion of urine from the body.		mondo.json	synaptic transmission involved in urination	http://purl.obolibrary.org/obo/GO_0060084		
GO:0060089	biolink:NamedThing	molecular transducer activity	A compound molecular function in which an effector function is controlled by one or more regulatory components.		mondo.json		http://purl.obolibrary.org/obo/GO_0060089		
HGNC:9936	biolink:NamedThing	OPN1LW			mondo.json		http://identifiers.org/hgnc/9936		
HP:0009830	biolink:PhenotypicFeature	Peripheral neuropathy	Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.	UMLS:C0031117|SNOMEDCT_US:302226006|SNOMEDCT_US:386033004|UMLS:C0442874|SNOMEDCT_US:42658009|MSH:D010523	mondo.json	Peripheral nerve damage|Neuropathy|Peripheral neuritis	http://purl.obolibrary.org/obo/HP_0009830		
GO:0098679	biolink:NamedThing	obsolete regulation of carbohydrate catabolic process by regulation of transcription from RNA polymerase II promoter	OBSOLETE. A regulation of transcription from RNA polymerase II promoter that results in regulation of carbohydrate catabloism.		mondo.json	regulation of carbohydrate catabolism by regulation of transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0098679		
UBERON:0000414	biolink:AnatomicalEntity	mucous gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000414		
UBERON:0000415	biolink:AnatomicalEntity	artery wall			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000415		
HP:0010885	biolink:PhenotypicFeature	Avascular necrosis	A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.	SNOMEDCT_US:72756009|SNOMEDCT_US:398199007|SNOMEDCT_US:240196003|UMLS:C0085660|MSH:D010020|UMLS:C0877326|UMLS:C0520474|UMLS:C0029445	mondo.json	Ischaemic bone necrosis|Death of bone due to decreased blood supply|Aseptic necrosis|Bone infarction|Aseptic bone necrosis|Ischemic bone necrosis|Osteonecrosis|Osteochondronecrosis	http://purl.obolibrary.org/obo/HP_0010885		
HP:0010884	biolink:PhenotypicFeature	Acromelia	Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs.	UMLS:C4023675	mondo.json		http://purl.obolibrary.org/obo/HP_0010884		hposlim_core
HGNC:9944	biolink:NamedThing	RDX			mondo.json		http://identifiers.org/hgnc/9944		
HGNC:9942	biolink:NamedThing	PRPH2			mondo.json		http://identifiers.org/hgnc/9942		
HGNC:9949	biolink:NamedThing	RECQL4			mondo.json		http://identifiers.org/hgnc/9949		
CHEBI:50691	biolink:ChemicalSubstance	abortifacient	A chemical substance that interrupts pregnancy after implantation.		mondo.json	abortifacient drug|abortifacient agents|abortifacient agent|abortifacient drugs|abortifacients	http://purl.obolibrary.org/obo/CHEBI_50691		
GO:0001739	biolink:NamedThing	sex chromatin	Chromatin that is part of a sex chromosome.		mondo.json		http://purl.obolibrary.org/obo/GO_0001739		
HP:0009887	biolink:PhenotypicFeature	Abnormality of hair pigmentation	An abnormality of hair pigmentation (color).	UMLS:C4024172	mondo.json	Abnormality of hair color|Abnormality of hair colour|Abnormality of hair pigmentation	http://purl.obolibrary.org/obo/HP_0009887		
UBERON:0000423	biolink:AnatomicalEntity	eccrine sweat gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000423		
HGNC:9940	biolink:NamedThing	RDH5			mondo.json		http://identifiers.org/hgnc/9940		
UBERON:0000409	biolink:AnatomicalEntity	serous gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000409		
UBERON:0000402	biolink:AnatomicalEntity	nasal vestibule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000402		
UBERON:0000403	biolink:AnatomicalEntity	scalp			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000403		
CHEBI:50689	biolink:ChemicalSubstance	reproductive control drug	A substance used either in the prevention or facilitation of pregnancy.		mondo.json	reproductive control agent|reproductive control drugs	http://purl.obolibrary.org/obo/CHEBI_50689		
HP:0010876	biolink:PhenotypicFeature	Abnormal circulating protein concentration	An abnormal level of a circulating protein in the blood.	UMLS:C4020764|UMLS:C4023679|UMLS:C4020763	mondo.json	Abnormal circulating protein level|Serum protein abnormality|Blood protein disease|Abnormality of circulating protein level	http://purl.obolibrary.org/obo/HP_0010876		
HGNC:9957	biolink:NamedThing	RELN			mondo.json		http://identifiers.org/hgnc/9957		
HGNC:9958	biolink:NamedThing	REN			mondo.json		http://identifiers.org/hgnc/9958		
CHEBI:50680	biolink:ChemicalSubstance	methotrexate(1-)			mondo.json	(2S)-4-carboxy-2-(4-{[(2,4-diaminopteridin-6-yl)methyl](methyl)amino}benzamido)butanoate	http://purl.obolibrary.org/obo/CHEBI_50680		
UBERON:0000410	biolink:AnatomicalEntity	bronchial mucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000410		
UBERON:0000411	biolink:AnatomicalEntity	visual cortex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000411		
CHEBI:50683	biolink:ChemicalSubstance	EC 1.5.1.3 (dihydrofolate reductase) inhibitor	An EC 1.5.1.* (oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor) inhibitor that interferes with the action of dihydrofolate reductase (EC 1.5.1.3).		mondo.json	dihydrofolate reductase inhibitor|EC 1.5.1.3 (dihydrofolate reductase) inhibitors|dihydrofolate reductase inhibitors|dihydrofolic acid reductase inhibitors|folic reductase inhibitors|NADPH-dihydrofolate reductase inhibitor|dihydrofolate reductase (EC 1.5.1.3) inhibitors|EC 1.5.1.3 inhibitors|folic acid reductase inhibitors|7,8-dihydrofolate reductase inhibitors|dihydrofolic reductase inhibitor|tetrahydrofolate dehydrogenase inhibitors|DHFR inhibitor|tetrahydrofolate dehydrogenase inhibitor|dihydrofolic reductase inhibitors|DHFR inhibitors|folic acid reductase inhibitor|7,8-dihydrofolate reductase inhibitor|EC 1.5.1.3 inhibitor|folic reductase inhibitor|NADPH-dihydrofolate reductase inhibitors|dihydrofolate reductase (EC 1.5.1.3) inhibitor|dihydrofolic acid reductase inhibitor	http://purl.obolibrary.org/obo/CHEBI_50683		
CHEBI:50681	biolink:ChemicalSubstance	methotrexate(2-)			mondo.json	methotrexate|(2S)-2-(4-{[(2,4-diaminopteridin-6-yl)methyl](methyl)amino}benzamido)pentanedioate	http://purl.obolibrary.org/obo/CHEBI_50681		
HGNC:9966	biolink:NamedThing	REST			mondo.json		http://identifiers.org/hgnc/9966		
HGNC:9967	biolink:NamedThing	RET			mondo.json		http://identifiers.org/hgnc/9967		
HGNC:9964	biolink:NamedThing	DPF2			mondo.json		http://identifiers.org/hgnc/9964		
HGNC:9965	biolink:NamedThing	RERE			mondo.json		http://identifiers.org/hgnc/9965		
HP:0010866	biolink:PhenotypicFeature	Abdominal wall defect	An incomplete closure of the abdominal wall.	UMLS:C0238577	mondo.json	Abdominal wall defect|Congenital anterior abdominal wall defect	http://purl.obolibrary.org/obo/HP_0010866		
HP:0010864	biolink:PhenotypicFeature	Intellectual disability, severe	Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.	SNOMEDCT_US:40700009|UMLS:C0036857	mondo.json	Severe mental retardation|Mental retardation, severe|Intellectual disability, severe|Early and severe mental retardation	http://purl.obolibrary.org/obo/HP_0010864		
UBERON:0000400	biolink:AnatomicalEntity	jejunal epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000400		
HGNC:7316	biolink:NamedThing	MS4A2			mondo.json		http://identifiers.org/hgnc/7316		
HGNC:7315	biolink:NamedThing	MS4A1			mondo.json		http://identifiers.org/hgnc/7315		
NCBITaxon:72274	biolink:OrganismalEntity	Pseudomonadales		GC_ID:11	mondo.json	Pseudomonaceae/Moraxellaceae group|gamma-3 proteobacteria	http://purl.obolibrary.org/obo/NCBITaxon_72274		
NCBITaxon:72273	biolink:OrganismalEntity	Thiotrichales		GC_ID:11	mondo.json	Thiothrix/Francisella group|Thiomicrospira group	http://purl.obolibrary.org/obo/NCBITaxon_72273		
GO:0050664	biolink:NamedThing	oxidoreductase activity, acting on NAD(P)H, oxygen as acceptor	Catalysis of an oxidation-reduction (redox) reaction in which NADH or NADPH acts as a hydrogen or electron donor and reduces an oxygen molecule.		mondo.json	oxidoreductase activity, acting on NADH or NADPH, oxygen as acceptor	http://purl.obolibrary.org/obo/GO_0050664		
GO:0050668	biolink:NamedThing	positive regulation of homocysteine metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving homocysteine.		mondo.json	upregulation of homocysteine metabolic process|positive regulation of Hcy metabolic process|stimulation of homocysteine metabolic process|up regulation of homocysteine metabolic process|positive regulation of Hcy metabolism|positive regulation of homocysteine metabolism|activation of homocysteine metabolic process|up-regulation of homocysteine metabolic process	http://purl.obolibrary.org/obo/GO_0050668		
GO:0050669	biolink:NamedThing	negative regulation of homocysteine metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving homocysteine.		mondo.json	negative regulation of homocysteine metabolism|down regulation of homocysteine metabolic process|inhibition of homocysteine metabolic process|down-regulation of homocysteine metabolic process|negative regulation of Hcy metabolism|negative regulation of Hcy metabolic process|downregulation of homocysteine metabolic process	http://purl.obolibrary.org/obo/GO_0050669		
GO:0050666	biolink:NamedThing	regulation of homocysteine metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid.		mondo.json	regulation of Hcy metabolic process|regulation of Hcy metabolism|regulation of homocysteine metabolism	http://purl.obolibrary.org/obo/GO_0050666		
GO:0050667	biolink:NamedThing	homocysteine metabolic process	The chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid. Homocysteine is an important intermediate in the metabolic reactions of its S-methyl derivative, methionine.		mondo.json	homocysteine metabolism|Hcy metabolism|Hcy metabolic process	http://purl.obolibrary.org/obo/GO_0050667		
MONDO:0025293	biolink:Disease	poult enteritis mortality syndrome	An acute, transmissible, infectious disease associated with high mortality and morbidity in young turkeys (poults). It is characterized by diarrhea; anorexia; growth depression, and immune dysfunction. The cause is unknown but astroviruses (avastrovirus) and coronaviruses (coronavirus, turkey) have been isolated from diseased poults and are thought to cause the enteritis and increased susceptibility to bacterial infections.	MESH:D031261|UMLS:C1135821	mondo.json	spiking mortality syndrome|mortality syndrome, spiking	http://purl.obolibrary.org/obo/MONDO_0025293	http://identifiers.org/mesh/D031261|UMLS:C1135821	
CL:0002306	biolink:Cell	epithelial cell of proximal tubule	An epithelial cell of the proximal tubule of the kidney.	KUPO:0001044|FMA:70973|FMA:62125	mondo.json	kidney proximal tubule epithelial cell	http://purl.obolibrary.org/obo/CL_0002306		
CL:0002305	biolink:Cell	epithelial cell of distal tubule	An epithelial cell of the distal convoluted tubule of the kidney that helps regulate systemic levels of potassium, sodium, calcium, and pH.	KUPO:0001055|FMA:70981|FMA:62125	mondo.json	kidney distal tubule epithelial cell	http://purl.obolibrary.org/obo/CL_0002305		
CL:0002308	biolink:Cell	epithelial cell of skin gland	An epithelial cell of a skin gland.	FMA:70657	mondo.json	epithelial cell of gland of skin	http://purl.obolibrary.org/obo/CL_0002308		
MONDO:0025294	biolink:Disease	tick-borne infectious disease	Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic.	MESH:D017282	mondo.json	infections, Tick-borne|Tick-borne infection|Tick borne diseases|infections, Tick borne|disease, Tick-borne|Tick-borne disease|diseases, Tick-borne|Tick borne infections|Tick-borne infections|infection, Tick-borne	http://purl.obolibrary.org/obo/MONDO_0025294	http://identifiers.org/mesh/D017282	
HGNC:195	biolink:NamedThing	ADAM17			mondo.json		http://identifiers.org/hgnc/195		
CL:0002303	biolink:Cell	pigmented ciliary epithelial cell	A ciliated epithelial cell of the retina, this cell type uptakes sodium chloride and passes it to non-pigmented ciliary epithelial cells.	FMA:70606	mondo.json	PE	http://purl.obolibrary.org/obo/CL_0002303		
GO:0098609	biolink:NamedThing	cell-cell adhesion	The attachment of one cell to another cell via adhesion molecules.		mondo.json	single organismal cell-cell adhesion	http://purl.obolibrary.org/obo/GO_0098609		
CHEBI:142163	biolink:ChemicalSubstance	24G7 epitope	An antigenic epitope recognized by an anti-bilirubin monoclonal antibody designated 24G7. A substructure of bilirubin IXalpha, it is the region containing the oxo group at C-1, the methyl group at C-2, C-(4, 5, 6, 9), and N-21 and -22.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_142163		
GO:0050673	biolink:NamedThing	epithelial cell proliferation	The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population. Epithelial cells make up the epithelium, the covering of internal and external surfaces of the body, including the lining of vessels and other small cavities. It consists of cells joined by small amounts of cementing substances.		mondo.json		http://purl.obolibrary.org/obo/GO_0050673		
GO:0023035	biolink:NamedThing	CD40 signaling pathway	The series of molecular signals initiated by the binding of the cell surface receptor CD40 to one of its physiological ligands, and ending with the regulation of a downstream cellular process, e.g. transcription.		mondo.json	CD40 signalling pathway	http://purl.obolibrary.org/obo/GO_0023035		
GO:0050679	biolink:NamedThing	positive regulation of epithelial cell proliferation	Any process that activates or increases the rate or extent of epithelial cell proliferation.		mondo.json	up-regulation of epithelial cell proliferation|up regulation of epithelial cell proliferation|activation of epithelial cell proliferation|stimulation of epithelial cell proliferation|upregulation of epithelial cell proliferation	http://purl.obolibrary.org/obo/GO_0050679		
GO:0050678	biolink:NamedThing	regulation of epithelial cell proliferation	Any process that modulates the frequency, rate or extent of epithelial cell proliferation.		mondo.json		http://purl.obolibrary.org/obo/GO_0050678		
CL:0002319	biolink:Cell	neural cell	A cell that is part of the nervous system.	FMA:70333|CALOHA:TS-2040	mondo.json		http://purl.obolibrary.org/obo/CL_0002319		
CL:0002313	biolink:Cell	endocrine-paracrine cell of prostate gland	An ecto-epithelial cell of the prostate gland that secretes hormones.	FMA:74390|CALOHA:TS-1280|FMA:86774	mondo.json	glandular cell of prostate|neuro-epithelial cell of prostate gland	http://purl.obolibrary.org/obo/CL_0002313		
CL:0002312	biolink:Cell	somatotroph	An acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin.	FMA:83095	mondo.json	somatrophic cell|somatotropic cell|somatotrope	http://purl.obolibrary.org/obo/CL_0002312		
MONDO:0013290	biolink:Disease	agammaglobulinemia 5, autosomal dominant	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene.	UMLS:C3150753|OMIM:613506|DOID:0080588	mondo.json	agammaglobulinemia 5|agammaglobulinemia, autosomal dominant, due to Lrrc8A defect|autosomal agammaglobulinemia caused by mutation in LRRC8A|AGM5|LRRC8A autosomal agammaglobulinemia|agammaglobulinemia 5, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0013290	DOID:0080588|UMLS:C3150753|https://omim.org/entry/613506	
MONDO:0025271	biolink:Disease	trypanosomiasis, bovine	Infection in cattle caused by various species of trypanosomes.	UMLS:C0041230|MESH:D014354	mondo.json	bovine Trypanosomiases|bovine trypanosomiasis|Trypanosomiases, bovine	http://purl.obolibrary.org/obo/MONDO_0025271	http://identifiers.org/mesh/D014354|UMLS:C0041230	
HGNC:177	biolink:NamedThing	ACY1			mondo.json		http://identifiers.org/hgnc/177		
MONDO:0025270	biolink:Disease	toxoplasmosis, non-human animal	Acquired infection of non-human animals by organisms of the genus toxoplasma.	MESH:D014124|UMLS:C0040559	mondo.json	animal Toxoplasmoses|animal toxoplasmosis|Toxoplasmoses, animal	http://purl.obolibrary.org/obo/MONDO_0025270	UMLS:C0040559|http://identifiers.org/mesh/D014124	
HGNC:175	biolink:NamedThing	ACVRL1			mondo.json		http://identifiers.org/hgnc/175		
HGNC:174	biolink:NamedThing	ACVR2B			mondo.json		http://identifiers.org/hgnc/174		
HGNC:171	biolink:NamedThing	ACVR1			mondo.json		http://identifiers.org/hgnc/171		
MONDO:0013299	biolink:Disease	chromosome 6q11-q14 deletion syndrome		OMIM:613544|DOID:0060423|UMLS:C3150790	mondo.json	chromosome 6q11-q14 deletion syndrome, isolated cases|chromosome 6q11-q14 deletion syndrome|chromosome 6Q13-q14 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013299	UMLS:C3150790|DOID:0060423|https://omim.org/entry/613544	
MONDO:0013293	biolink:Disease	isolated microphthalmia 6	Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene.	OMIM:613517|DOID:0060835|UMLS:C3150757	mondo.json	microphthalmia, isolated type 6|microphthalmia, posterior nonsyndromic|MCOP6|PRSS56 isolated microphthalmia|posterior nonsyndromic microphthalmia|isolated microphthalmia type 6|isolated microphthalmia caused by mutation in PRSS56|microphthalmia, isolated 6	http://purl.obolibrary.org/obo/MONDO_0013293	UMLS:C3150757|DOID:0060835|https://omim.org/entry/613517	
MONDO:0013294	biolink:Disease	atopic dermatitis 8	An atopic dermatitis associated with variation in the region 4q22.1.	UMLS:C3150763|DOID:0110104|OMIM:613518	mondo.json	dermatitis, atopic, susceptibility to, 8|dermatitis, Atopic, severity of|atopic dermatitis type 8|ATOD8|dermatitis, ATOPIC, 8	http://purl.obolibrary.org/obo/MONDO_0013294	DOID:0110104|UMLS:C3150763|https://omim.org/entry/613518	
MONDO:0013291	biolink:Disease	glycogen storage disease XV	Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.	DOID:0050579|Orphanet:263297|UMLS:C3150754|OMIM:613507|SCTID:717821004	mondo.json	glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency|glycogenosis type XV|GSD type 15|Gyg1 deficiency|glycogen storage disease 15|GSD 15|glycogenosis with severe cardiomyopathy due to glycogenin deficiency|GSD15|GSD type XV|glycogen storage disease XV|GSD with severe cardiomyopathy due to glycogenin deficiency|glycogen storage disease type 15|glycogenosis type 15|glycogenin deficiency|glycogen storage disease type XV	http://purl.obolibrary.org/obo/MONDO_0013291	http://identifiers.org/snomedct/717821004|DOID:0050579|UMLS:C3150754|Orphanet:263297|https://omim.org/entry/613507	ordo_disease
MONDO:0013292	biolink:Disease	chromosome 4q21 deletion syndrome	The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.	UMLS:C4304530|UMLS:C3150756|DOID:0060420|Orphanet:238750|OMIM:613509|SCTID:719660008	mondo.json	Del(4)(q21)|monosomy 4q21|4q21 microdeletion syndrome|chromosome 4q21 deletion syndrome, isolated cases|chromosome 4q21 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013292	UMLS:C4304530|Orphanet:238750|UMLS:C3150756|DOID:0060420|https://omim.org/entry/613509|http://identifiers.org/snomedct/719660008	ordo_malformation_syndrome
MONDO:0013297	biolink:Disease	autosomal dominant limb-girdle muscular dystrophy type 1H	Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle.	Orphanet:238755|GARD:0012532|DOID:0110303|OMIM:613530|UMLS:C3150786	mondo.json	LGMD1H|muscular dystrophy limb-girdle type 1H|limb-girdle muscular dystrophy type 1H|muscular dystrophy, limb-girdle, type 1H	http://purl.obolibrary.org/obo/MONDO_0013297	Orphanet:238755|UMLS:C3150786|DOID:0110303|https://omim.org/entry/613530	ordo_disease
MONDO:0013298	biolink:Disease	chromosome 17q21.31 duplication syndrome	The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.	OMIM:613533|DOID:0060434|Orphanet:217340|SCTID:716683005|UMLS:C4274345|UMLS:C3150787	mondo.json	chromosome 17q21.31 duplication syndrome|17q21.31 microduplication syndrome|dup(17)(q21.31)|trisomy 17q21.31	http://purl.obolibrary.org/obo/MONDO_0013298	UMLS:C4274345|http://identifiers.org/snomedct/716683005|UMLS:C3150787|DOID:0060434|Orphanet:217340|https://omim.org/entry/613533	ordo_malformation_syndrome
MONDO:0013295	biolink:Disease	atopic dermatitis 9	An atopic dermatitis associated with variation in the region 3p24.	UMLS:C3150764|DOID:0110105|OMIM:613519	mondo.json	dermatitis, atopic, susceptibility to, 9|atopic dermatitis type 9|ATOD9|dermatitis, ATOPIC, 9	http://purl.obolibrary.org/obo/MONDO_0013295	DOID:0110105|UMLS:C3150764|https://omim.org/entry/613519	
GO:0050680	biolink:NamedThing	negative regulation of epithelial cell proliferation	Any process that stops, prevents or reduces the rate or extent of epithelial cell proliferation.		mondo.json	down-regulation of epithelial cell proliferation|down regulation of epithelial cell proliferation|downregulation of epithelial cell proliferation|inhibition of epithelial cell proliferation	http://purl.obolibrary.org/obo/GO_0050680		
MONDO:0013296	biolink:Disease	myeloid neoplasm associated with FGFR1 rearrangement	Hematologic neoplasms characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. Patients present with a myeloproliferative neoplasm, acute myeloid leukemia, lymphoblastic lymphoma/leukemia of T or B-cell lineage, or acute leukemia of mixed phenotype.	UMLS:C3150773|OMIM:613523|ONCOTREE:MLNFGFR1|ICDO:9967/3|Orphanet:168953|UMLS:C2827362|NCIT:C84277	mondo.json	8p11 stem cell syndrome|8p11 stem cell lymphoma/leukemia syndrome|myeloid/lymphoid neoplasms with FGFR1 rearrangement|myeloid/lymphoid neoplasm associated with FGFR1 rearrangement|stem cell leukemia/lymphoma|8p11 stem cell leukemia/lymphoma syndrome|8p11 myeloproliferative syndrome|chromosome 8p11 myeloproliferative syndrome|myeloid and lymphoid neoplasms with FGFR1 rearrangement	http://purl.obolibrary.org/obo/MONDO_0013296	UMLS:C2827362|UMLS:C3150773|NCIT:C84277|https://omim.org/entry/613523|Orphanet:168953	ordo_disease
GO:0047045	biolink:NamedThing	testosterone 17-beta-dehydrogenase (NADP+) activity	Catalysis of the reaction: NADP+ + testosterone = NADPH + H+ + androst-4-ene-3,17-dione.		mondo.json	testosterone 17beta-dehydrogenase (NADP+)|17beta-hydroxysteroid:NADP+ 17-oxidoreductase activity|NADP-dependent testosterone-17beta-oxidoreductase activity|17-ketoreductase activity	http://purl.obolibrary.org/obo/GO_0047045		
HGNC:188	biolink:NamedThing	ADAM10			mondo.json		http://identifiers.org/hgnc/188		
HGNC:186	biolink:NamedThing	ADA			mondo.json		http://identifiers.org/hgnc/186		
MONDO:0025263	biolink:Disease	strongyle infections, equine	Infection of horses with parasitic nematodes of the superfamily strongyloidea. Characteristics include the development of hemorrhagic nodules on the abdominal peritoneum.	UMLS:C0038459|MESH:D013319	mondo.json	strongyle infection, equine|infection, equine strongyle|Strongyloses, equine|infections, equine strongyle|equine Strongyloses|equine strongyle infection|Strongylosis, equine|equine Strongylosis|equine strongyle infections	http://purl.obolibrary.org/obo/MONDO_0025263	http://identifiers.org/mesh/D013319|UMLS:C0038459	
MONDO:0013288	biolink:Disease	agammaglobulinemia 3, autosomal recessive	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene.	UMLS:C3150751|OMIM:613501	mondo.json	agammaglobulinemia 3, autosomal recessive|AGM3|autosomal agammaglobulinemia caused by mutation in CD79A|agammaglobulinemia, autosomal recessive, due to Cd79A defect|CD79A autosomal agammaglobulinemia	http://purl.obolibrary.org/obo/MONDO_0013288	UMLS:C3150751|https://omim.org/entry/613501	
MONDO:0013289	biolink:Disease	agammaglobulinemia 4, autosomal recessive	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene.	UMLS:C3150752|OMIM:613502	mondo.json	AGM4|agammaglobulinemia 4, autosomal recessive|BLNK autosomal agammaglobulinemia|autosomal agammaglobulinemia caused by mutation in BLNK|agammaglobulinemia 4|agammaglobulinemia, autosomal recessive, due to Blnk defect	http://purl.obolibrary.org/obo/MONDO_0013289	https://omim.org/entry/613502|UMLS:C3150752	
GO:0060004	biolink:NamedThing	reflex	An automatic response to a stimulus beginning with a nerve impulse from a receptor and ending with the action of an effector such as a gland or a muscle. Signaling never reaches a level of consciousness.		mondo.json		http://purl.obolibrary.org/obo/GO_0060004		
GO:0060005	biolink:NamedThing	vestibular reflex	A reflex process in which a response to an angular or linear acceleration stimulus begins with an afferent nerve impulse from a receptor in the inner ear and ends with the compensatory action of eye muscles. Signaling never reaches a level of consciousness.		mondo.json		http://purl.obolibrary.org/obo/GO_0060005		
MONDO:0013282	biolink:Disease	alpha 1-antitrypsin deficiency	Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis.	MESH:D019896|ICD10CM:E88.01|DOID:13372|SCTID:30188007|NCIT:C84397|Orphanet:60|MedDRA:10001806|UMLS:C0221757|ICD9:273.4|OMIM:613490|GARD:0005784	mondo.json	ALPHA-1-antitrypsin deficiency|AATD|alpha-1-antitrypsin deficiency|Alpha-1 antitrypsin deficiency|A1AT deficiency|A-1ATD|hemorrhagic diathesis due to antithrombin pittsburgh|A1ATD|emphysema due to AAT deficiency|AAT deficiency|emphysema-cirrhosis, due to AAT deficiency|A1AD|deficiency in Alpa-1-proteinase inhibitor|Alpha 1 antitrypsin deficiency|alpha 1-antitrypsin deficiency	http://purl.obolibrary.org/obo/MONDO_0013282	DOID:13372|UMLS:C0221757|http://identifiers.org/mesh/D019896|https://omim.org/entry/613490|NCIT:C84397|Orphanet:60|http://purl.bioontology.org/ontology/ICD10CM/E88.01|http://identifiers.org/snomedct/30188007	gard_rare|ordo_disease
MONDO:0013283	biolink:Disease	immunodeficiency, common variable, 3		UMLS:C3150738|OMIM:613493	mondo.json	CVID3|immunodeficiency, common variable, type 3|antibody deficiency due to CD19 defect|immunodeficiency, common variable, 3	http://purl.obolibrary.org/obo/MONDO_0013283	UMLS:C3150738|https://omim.org/entry/613493	
GO:0023019	biolink:NamedThing	signal transduction involved in regulation of gene expression	Any process that modulates the frequency, rate or extent of gene expression as a consequence of a process in which a signal is released and/or conveyed from one location to another.		mondo.json	regulation of gene expression as a consequence of signal transmission	http://purl.obolibrary.org/obo/GO_0023019		
MONDO:0013280	biolink:Disease	myxoid liposarcoma	A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma.	OMIM:613488|ICD9:171.9|NCIT:C27781|SCTID:404069006|DOID:5709|GARD:0007157|MESH:D018208|EFO:0000613|ICDO:8852/3|DOID:5363	mondo.json	Myxoliposarcoma|mixed-type liposarcoma|myxoid/round cell liposarcoma|myxoid liposarcoma (morphologic abnormality)|myxoid liposarcoma	http://purl.obolibrary.org/obo/MONDO_0013280	DOID:5363|http://identifiers.org/snomedct/404069006|DOID:5709|http://identifiers.org/mesh/D018208|NCIT:C27781|https://omim.org/entry/613488	
MONDO:0013281	biolink:Disease	COG4-congenital disorder of glycosylation	COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.	GARD:0012412|OMIM:613489|Orphanet:263501|UMLS:C3150736|DOID:0070262|SCTID:718751000	mondo.json	congenital disorder of glycosylation, type IIj|congenital disorder of glycosylation type IIj|CDG2J|CDG syndrome type IIj|congenital disorder of glycosylation type 2j|COG4-congenital disorder of glycosylation|carbohydrate deficient glycoprotein syndrome type IIj|CDG-IIj|CDG IIj|COG4-CDG (CDG-IIj)|COG4-CDG	http://purl.obolibrary.org/obo/MONDO_0013281	UMLS:C3150736|https://omim.org/entry/613489|Orphanet:263501|DOID:0070262|http://identifiers.org/snomedct/718751000	ordo_disease
MONDO:0013286	biolink:Disease	immunodeficiency, common variable, 6	Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene.	OMIM:613496|UMLS:C3150741	mondo.json	CD81 common variable immunodeficiency|immunodeficiency, common variable, 6|antibody deficiency due to CD81 defect|immunodeficiency, common variable, type 6|common variable immunodeficiency caused by mutation in CD81|CVID6	http://purl.obolibrary.org/obo/MONDO_0013286	UMLS:C3150741|https://omim.org/entry/613496	
MONDO:0013287	biolink:Disease	agammaglobulinemia 2, autosomal recessive	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene.	UMLS:C3150750|OMIM:613500|DOID:0060024	mondo.json	agammaglobulinemia 2, autosomal recessive|AGM2|IGLL1 autosomal agammaglobulinemia|lambda 5 deficiency|agammaglobulinemia, autosomal recessive, due to IGLL1 defect|autosomal agammaglobulinemia caused by mutation in IGLL1	http://purl.obolibrary.org/obo/MONDO_0013287	UMLS:C3150750|DOID:0060024|https://omim.org/entry/613500	
MONDO:0013284	biolink:Disease	immunodeficiency, common variable, 4		UMLS:C3150739|OMIM:613494	mondo.json	immunodeficiency, common variable, 4|immunodeficiency, common variable, type 4|antibody deficiency due to Baffr defect|CVID4	http://purl.obolibrary.org/obo/MONDO_0013284	UMLS:C3150739|https://omim.org/entry/613494	
MONDO:0013285	biolink:Disease	immunodeficiency, common variable, 5	Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene.	OMIM:613495|UMLS:C3150740	mondo.json	immunodeficiency, common variable, 5|MS4A1 common variable immunodeficiency|antibody deficiency due to CD20 defect|immunodeficiency, common variable, type 5|common variable immunodeficiency caused by mutation in MS4A1|CVID5	http://purl.obolibrary.org/obo/MONDO_0013285	UMLS:C3150740|https://omim.org/entry/613495	
ENVO:01000996	biolink:NamedThing	human-directed construction process	An process during which natural or manufactured materials and products are processed and arranged by humans or their technology into structures.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000996		
GO:0098642	biolink:NamedThing	network-forming collagen trimer	A collagen trimer that forms networks.		mondo.json		http://purl.obolibrary.org/obo/GO_0098642		
MONDO:0049223	biolink:Disease	osteogenesis imperfecta, type 19		UMLS:CN252653|OMIM:301014	mondo.json	osteogenesis imperfecta, type XIX|osteogenesis imperfecta, type XIX, X-linked recessive|OI19	http://purl.obolibrary.org/obo/MONDO_0049223	https://omim.org/entry/301014|UMLS:CN252653	
ENVO:01000997	biolink:NamedThing	environmental system determined by a quality	An environmental system which is determined by materials bearing roughly homogeneous qualities.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000997		
GO:0098643	biolink:NamedThing	banded collagen fibril	A supramolecular assembly of fibrillar collagen complexes in the form of a long fiber (fibril) with transverse striations (bands).		mondo.json		http://purl.obolibrary.org/obo/GO_0098643		
MONDO:0049222	biolink:Disease	intellectual disability, X-linked 107		OMIM:301013	mondo.json	mental retardation, X-linked 107|MRX107|intellectual developmental disorder, X-linked 107|intellectual disability, X-linked 107	http://purl.obolibrary.org/obo/MONDO_0049222	https://omim.org/entry/301013	
ENVO:01000998	biolink:NamedThing	environmental system determined by a material	An environmental system within which an environmental material strongly influences the system's composition and properties.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000998		
MONDO:0049221	biolink:Disease	myopia 26, X-linked, female-limited		OMIM:301010|UMLS:C4538795	mondo.json	MYP26|myopia 26, X-linked, female-limited	http://purl.obolibrary.org/obo/MONDO_0049221	https://omim.org/entry/301010|UMLS:C4538795	
ENVO:01000993	biolink:NamedThing	manufacturing process	A planned process during which raw or recycled materials are transformed into products for use or sale using labour and machines, tools, chemical and biological processing, or formulation.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000993		
GO:0001696	biolink:NamedThing	gastric acid secretion	The regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion.		mondo.json	hydrochloric acid secretion	http://purl.obolibrary.org/obo/GO_0001696		
NCBITaxon:11308	biolink:OrganismalEntity	Orthomyxoviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_11308		
HP:0009804	biolink:PhenotypicFeature	Tooth agenesis	The absence of one or more teeth from the normal series by a failure to develop	UMLS:C4024202|UMLS:C4083050	mondo.json	Reduced number of teeth|Missing some teeth|Failure of development of some teeth|Fewer teeth than normal|Teeth, agenesis|Decreased tooth count|Dental agenesis|Tooth agenesis|Decreased number of teeth	http://purl.obolibrary.org/obo/HP_0009804		
GO:0060037	biolink:NamedThing	pharyngeal system development	The process whose specific outcome is the progression of the pharyngeal system over time, from its formation to the mature structure. The pharyngeal system is a transient embryonic complex that is specific to vertebrates. It comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming: the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear.		mondo.json		http://purl.obolibrary.org/obo/GO_0060037		
HGNC:24270	biolink:NamedThing	DPH5			mondo.json		http://identifiers.org/hgnc/24270		
GO:0098647	biolink:NamedThing	collagen beaded filament	A supramolecular assembly of collagen trimers with a 'beads on a string'-like structure.		mondo.json	beads on a string	http://purl.obolibrary.org/obo/GO_0098647		
HGNC:12298	biolink:NamedThing	TRH			mondo.json		http://identifiers.org/hgnc/12298		
GO:0098644	biolink:NamedThing	complex of collagen trimers	A complex of collagen trimers such as a fibril or collagen network.		mondo.json	Supramolecular aggregate of collagen|Supramolecular collagen assembly	http://purl.obolibrary.org/obo/GO_0098644		
GO:0098645	biolink:NamedThing	collagen network	A supramolecular complex that consists of collagen triple helices associated to form a network.		mondo.json		http://purl.obolibrary.org/obo/GO_0098645		
GO:0098651	biolink:NamedThing	basement membrane collagen trimer	Any collagen timer that is part of a basement membrane.		mondo.json		http://purl.obolibrary.org/obo/GO_0098651		
ENVO:01000981	biolink:NamedThing	mass liquid flow	A process whereby a volume of liquid moves due to a disequilibrium of physical forces.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000981		
ENVO:01000982	biolink:NamedThing	water flow process	A process during which a volume of water is transported due to a disequilibria in physical forces.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000982		
ENVO:01000983	biolink:NamedThing	technosphere	A part of an astronomical body which includes, as parts, all the entities which have been constructed or manufactured by humans or their technology and which are within the gravitational sphere of influence of that body.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000983		
HGNC:166	biolink:NamedThing	ACTN4			mondo.json		http://identifiers.org/hgnc/166		
HGNC:164	biolink:NamedThing	ACTN2			mondo.json		http://identifiers.org/hgnc/164		
HGNC:163	biolink:NamedThing	ACTN1			mondo.json		http://identifiers.org/hgnc/163		
HGNC:160	biolink:NamedThing	ACTL6B			mondo.json		http://identifiers.org/hgnc/160		
HP:0009815	biolink:PhenotypicFeature	Aplasia/hypoplasia of the extremities	Absence (due to failure to form) or underdevelopment of the extremities.	UMLS:C0239399	mondo.json	Absent/underdeveloped extremities|Shortened limbs|Short or absent limbs|Absent/small extremities	http://purl.obolibrary.org/obo/HP_0009815		
MONDO:0037250	biolink:Disease	childhood testicular neoplasm	A neoplasm that arises from the testis during childhood.	NCIT:C5053	mondo.json	pediatric neoplasm of testis|childhood neoplasm of testis|childhood neoplasm of the testis|pediatric testicular neoplasm|neoplasm of testis of childhood|testicular tumor, childhood|pediatric neoplasm of the testis|childhood testicular neoplasm	http://purl.obolibrary.org/obo/MONDO_0037250	NCIT:C5053	
HP:0009810	biolink:PhenotypicFeature	Abnormality of upper limb joint		UMLS:C4021387	mondo.json	Abnormality of upper limb joint|Abnormality of the joints of the upper limbs	http://purl.obolibrary.org/obo/HP_0009810		
MONDO:0037251	biolink:Disease	congestive splenomegaly		SCTID:19058002	mondo.json	congestive splenomegaly|fibrocongestive splenomegaly|banti's spleen|banti syndrome	http://purl.obolibrary.org/obo/MONDO_0037251	http://identifiers.org/snomedct/19058002	
MONDO:0037252	biolink:Disease	thecoma	An ovarian or testicular stromal tumor characterized by the presence of lipid-rich neoplastic spindle cells. In females, uterine bleeding is the most common symptom. A minority of post-menopausal women with thecoma have an associated endometrial adenocarcinoma or rarely a malignant mixed mullerian tumor or endometrial stromal sarcoma. Rare cases with nuclear atypia and mitotic activity may metastasize. In males, thecomas are rare and they usually present as slow growing, sometimes painful masses. Metastases have not been reported.	MESH:D013798|NCIT:C3405|ICDO:8600/0	mondo.json	thecoma	http://purl.obolibrary.org/obo/MONDO_0037252	NCIT:C3405|http://identifiers.org/mesh/D013798	
MONDO:0037253	biolink:Disease	ovarian thecoma	A stromal tumor that arises from the ovary and is characterized by the presence of cells that contain lipid and resemble theca cells. The vast majority of cases are benign.	SCTID:254864005|NCIT:C66989	mondo.json	theca cell neoplasm of the ovary|ovarian theca cell tumor|theca cell neoplasm of ovary|ovarian theca cell neoplasm|ovary thecoma|ovarian thecoma|thecoma of the ovary|theca cell tumor of the ovary|thecoma of ovary|theca cell tumor of ovary	http://purl.obolibrary.org/obo/MONDO_0037253	NCIT:C66989|http://identifiers.org/snomedct/254864005	
GO:0098657	biolink:NamedThing	import into cell	The directed movement of some substance from outside of a cell into a cell. This may occur via transport across the plasma membrane or via endocytosis.		mondo.json	uptake	http://purl.obolibrary.org/obo/GO_0098657		
MONDO:0037254	biolink:Disease	transitional cell neoplasm		NCIT:C6783|UMLS:C0334265	mondo.json	transitional cell neoplasm|transitional cell tumor	http://purl.obolibrary.org/obo/MONDO_0037254	NCIT:C6783|UMLS:C0334265	
MONDO:0037255	biolink:Disease	ovarian serous tumor	A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that, in well differentiated tumors, resemble the epithelial cells of the fallopian tube and, in poorly differentiated tumors, show anaplastic features. Approximately thirty to fifty percent of the tumors are bilateral. Grossly, the better differentiated tumors consist of cystic masses, usually unilocular, containing a clear but sometimes viscous fluid. Papillary formations are often present. The more malignant tumors tend to be solid and invasive, with areas of necrosis and hemorrhage.	NCIT:C8431|UMLS:C0476122	mondo.json	ovarian serous neoplasm|serous neoplasm of the ovary|ovarian serous tumor|serous neoplasm of ovary|serous tumor of the ovary|serous tumor of ovary	http://purl.obolibrary.org/obo/MONDO_0037255	UMLS:C0476122|NCIT:C8431	
GO:0098655	biolink:NamedThing	cation transmembrane transport	The process in which a cation is transported across a membrane.		mondo.json	ATP hydrolysis coupled cation transmembrane transport	http://purl.obolibrary.org/obo/GO_0098655		
MONDO:0037256	biolink:Disease	serous neoplasm		UMLS:C1335951|NCIT:C7074	mondo.json	serous neoplasm	http://purl.obolibrary.org/obo/MONDO_0037256	UMLS:C1335951|NCIT:C7074	
GO:0098656	biolink:NamedThing	anion transmembrane transport	The process in which an anion is transported across a membrane.		mondo.json	ATP hydrolysis coupled anion transmembrane transport	http://purl.obolibrary.org/obo/GO_0098656		
GO:0001675	biolink:NamedThing	acrosome assembly	The formation of the acrosome from the spermatid Golgi.		mondo.json	acrosome formation	http://purl.obolibrary.org/obo/GO_0001675		
GO:0001677	biolink:NamedThing	formation of translation initiation ternary complex	Formation of a complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator).		mondo.json	translation initiation ternary complex assembly	http://purl.obolibrary.org/obo/GO_0001677		
GO:0001678	biolink:NamedThing	cellular glucose homeostasis	A cellular homeostatic process involved in the maintenance of an internal steady state of glucose within a cell or between a cell and its external environment.		mondo.json	cell glucose homeostasis	http://purl.obolibrary.org/obo/GO_0001678		
GO:0001671	biolink:NamedThing	ATPase activator activity	Binds to and increases the activity of an ATP hydrolysis activity.		mondo.json	ATPase stimulator activity	http://purl.obolibrary.org/obo/GO_0001671		
HGNC:132	biolink:NamedThing	ACTB			mondo.json		http://identifiers.org/hgnc/132		
GO:0060050	biolink:NamedThing	positive regulation of protein glycosylation	Any process that activates or increases the frequency, rate or extent of the glycosylation of one or more amino acid residues within a protein. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.		mondo.json	positive regulation of protein amino acid glycosylation	http://purl.obolibrary.org/obo/GO_0060050		
GO:0060051	biolink:NamedThing	negative regulation of protein glycosylation	Any process that stops, prevents, or reduces the frequency, rate or extent of the glycosylation of one or more amino acid residues within a protein. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.		mondo.json	negative regulation of protein amino acid glycosylation	http://purl.obolibrary.org/obo/GO_0060051		
HGNC:130	biolink:NamedThing	ACTA2			mondo.json		http://identifiers.org/hgnc/130		
GO:1902476	biolink:NamedThing	chloride transmembrane transport	The process in which chloride is transported across a membrane.		mondo.json		http://purl.obolibrary.org/obo/GO_1902476		
GO:0060054	biolink:NamedThing	positive regulation of epithelial cell proliferation involved in wound healing	Any process that activates or increases the rate or extent of epithelial cell proliferation, contributing to the restoration of integrity to a damaged tissue following an injury.		mondo.json		http://purl.obolibrary.org/obo/GO_0060054		
GO:0060055	biolink:NamedThing	angiogenesis involved in wound healing	Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels and contribute to the series of events that restore integrity to a damaged tissue, following an injury.		mondo.json		http://purl.obolibrary.org/obo/GO_0060055		
CHEBI:8058	biolink:ChemicalSubstance	phencyclidine	A member of the class of piperidines that is piperidine in which the nitrogen is substituted with a 1-phenylcyclohexyl group.  Formerly used as an anaesthetic agent, it exhibits both hallucinogenic and neurotoxic effects.		mondo.json	phencyclidine|1-(1-phenylcyclohexyl)piperidine|fenciclidina|PCP|Phencyclidine|phencyclidinum	http://purl.obolibrary.org/obo/CHEBI_8058		
GO:0098631	biolink:NamedThing	cell adhesion mediator activity	The binding by a cell-adhesion protein on a cell surface to an adhesion molecule on another cell surface or an external substrate, to mediate adhesion of the cell to the external substrate or to another cell.		mondo.json	protein binding involved in cell adhesion|cell adhesion molecule	http://purl.obolibrary.org/obo/GO_0098631		
GO:0098632	biolink:NamedThing	cell-cell adhesion mediator activity	The binding by a cell-adhesion protein on the cell surface to an extracellular matrix component, to mediate adhesion of the cell to another cell.		mondo.json	protein binding involved in cell-cell adhesion|cell-cell adhesion molecule	http://purl.obolibrary.org/obo/GO_0098632		
HGNC:24268	biolink:NamedThing	ASCC1			mondo.json		http://identifiers.org/hgnc/24268		
HGNC:144	biolink:NamedThing	ACTG1			mondo.json		http://identifiers.org/hgnc/144		
HGNC:143	biolink:NamedThing	ACTC1			mondo.json		http://identifiers.org/hgnc/143		
HGNC:24265	biolink:NamedThing	PTRH2			mondo.json		http://identifiers.org/hgnc/24265		
GO:1902494	biolink:NamedThing	catalytic complex	A protein complex which is capable of catalytic activity.		mondo.json	enzyme complex	http://purl.obolibrary.org/obo/GO_1902494		
GO:1902495	biolink:NamedThing	transmembrane transporter complex	A transmembrane protein complex which enables the transfer of a substance from one side of a membrane to the other.		mondo.json		http://purl.obolibrary.org/obo/GO_1902495		
GO:1902492	biolink:NamedThing	positive regulation of sperm capacitation	Any process that activates or increases the frequency, rate or extent of sperm capacitation.		mondo.json	up regulation of sperm activation|up-regulation of sperm activation|upregulation of sperm capacitation|activation of sperm activation|upregulation of sperm activation|up regulation of sperm capacitation|positive regulation of sperm activation|up-regulation of sperm capacitation|activation of sperm capacitation	http://purl.obolibrary.org/obo/GO_1902492		
GO:0060047	biolink:NamedThing	heart contraction	The multicellular organismal process in which the heart decreases in volume in a characteristic way to propel blood through the body.		mondo.json	heart beating|cardiac contraction|hemolymph circulation	http://purl.obolibrary.org/obo/GO_0060047		
GO:0060048	biolink:NamedThing	cardiac muscle contraction	Muscle contraction of cardiac muscle tissue.		mondo.json	heart muscle contraction	http://purl.obolibrary.org/obo/GO_0060048		
GO:1902490	biolink:NamedThing	regulation of sperm capacitation	Any process that modulates the frequency, rate or extent of sperm capacitation.		mondo.json	regulation of sperm activation	http://purl.obolibrary.org/obo/GO_1902490		
GO:0060049	biolink:NamedThing	regulation of protein glycosylation	Any process that modulates the frequency, rate or extent of protein glycosylation. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.		mondo.json	regulation of protein amino acid glycosylation	http://purl.obolibrary.org/obo/GO_0060049		
GO:1902491	biolink:NamedThing	negative regulation of sperm capacitation	Any process that stops, prevents or reduces the frequency, rate or extent of sperm capacitation.		mondo.json	down regulation of sperm capacitation|downregulation of sperm activation|inhibition of sperm capacitation|down-regulation of sperm capacitation|down regulation of sperm activation|negative regulation of sperm activation|down-regulation of sperm activation|downregulation of sperm capacitation|inhibition of sperm activation	http://purl.obolibrary.org/obo/GO_1902491		
MONDO:0001246	biolink:Disease	typhus	A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus.	ICD9:080|GARD:0007833|ICD9:081.9|SCTID:240613006|Orphanet:102023|DOID:11256|ICD9:081.0|UMLS:C0041472|UMLS:C0041471	mondo.json	murine [endemic] typhus|famine fever|endemic flea-borne typhus|exanthematic typhus fever|Moscow typhus|typhus-group rickettsiosis|ship fever|prison fever|louse-borne [epidemic] typhus|classical typhus|jail fever|rat flea typhus|hospital fever|endemic typhus fever|petechial fever|exanthematous typhus|louse-borne rickettsiosis|typhus-group rickettsiae disease|typhus exanthematique|European typhus|epidemic louse-borne typhus|flea-borne rickettsiosis|classical typhus (fever)|flea-borne typhus|Urban typhus|louse-borne typhus|epidemic louse-borne typhus fever due to Rickettsia prowazekii|epidemic (louse-borne) typhus|murine typhus|shop typhus|Mexican typhus|flea typhus|typhus fever	http://purl.obolibrary.org/obo/MONDO_0001246	http://identifiers.org/snomedct/240613006|UMLS:C0041472|UMLS:C0041471|Orphanet:102023|DOID:11256	ordo_group_of_disorders|disease_grouping
MONDO:0001245	biolink:Disease	microcytic anemia	Anemia in which the red blood cell volume is decreased.	SCTID:234349007|NCIT:C35141|DOID:11252|HP:0001935	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001245	http://identifiers.org/snomedct/234349007|DOID:11252|NCIT:C35141	
HGNC:26899	biolink:NamedThing	TMTC3			mondo.json		http://identifiers.org/hgnc/26899		
MONDO:0001244	biolink:Disease	vitamin K deficiency hemorrhagic disease	Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding.	ICD10CM:E56.1|DOID:11249|NCIT:C99108|UMLS:C0272348|MESH:D014813|UMLS:C0042880|SCTID:52675005|ICD9:269.0	mondo.json	vitamin K deficiency coagulation disorder|vitamin K deficiency|deficiency of vitamin K	http://purl.obolibrary.org/obo/MONDO_0001244	NCIT:C99108|UMLS:C0042880|http://purl.bioontology.org/ontology/ICD10CM/E56.1|DOID:11249|http://identifiers.org/snomedct/52675005|UMLS:C0272348|http://identifiers.org/mesh/D014813	
MONDO:0001243	biolink:Disease	disseminated intravascular coagulation	A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage.	MESH:D004211|NCIT:C2992|UMLS:C4321305|DOID:11247|UMLS:C0012739|ICD9:286.6|SCTID:67406007	mondo.json	disseminated intravascular coagulation (DIC)|DIC|consumptive coagulopathy|DIC, disseminated intravascular coagulation|disseminated intravascular coagulation|defibrination syndrome|coagulation (DIC), disseminated intravascular|diffuse or disseminated intravascular coagulation|intravascular coagulation (DIC), disseminated	http://purl.obolibrary.org/obo/MONDO_0001243	UMLS:C0012739|DOID:11247|http://identifiers.org/mesh/D004211|UMLS:C4321305|NCIT:C2992|http://identifiers.org/snomedct/67406007	
MONDO:0001249	biolink:Disease	trachoma	A chronic infection of the conjunctiva and cornea caused by chlamydia trachomatis.	UMLS:C0040592|GARD:0010374|SCTID:2576002|ICD9:076.1|ICD9:076.9|ICD9:076.0|MESH:D014141|ICD9:076|DOID:11265	mondo.json	active stage trachoma|trachoma dubium	http://purl.obolibrary.org/obo/MONDO_0001249	UMLS:C0040592|DOID:11265|http://identifiers.org/snomedct/2576002|http://identifiers.org/mesh/D014141	gard_rare
MONDO:0001248	biolink:Disease	obsolete rabies			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001248		
MONDO:0001247	biolink:Disease	social phobia	An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable.	ICD9:300.23|NCIT:C34927|EFO:1001917|MESH:D000072861|DOID:11257|SCTID:25501002	mondo.json	social anxiety disorder	http://purl.obolibrary.org/obo/MONDO_0001247	NCIT:C34927|http://identifiers.org/mesh/D000072861|DOID:11257|http://identifiers.org/snomedct/25501002	
MONDO:0001242	biolink:Disease	disseminated intravascular coagulation in newborn	A clotting condition characterized as a disruption in the homeostatic balance of the coagulation and fibrinolytic systems presenting as a pathological activation of coagulation mechanisms leading to the formation of small clots inside the blood vessels throughout the body of the newborn.	NCIT:C111856|DOID:11246|ICD9:776.2|UMLS:C0158992|SCTID:34417008	mondo.json	disseminated intravascular coagulation in newborn|neonatal disseminated intravascular coagulation|DIC in newborn	http://purl.obolibrary.org/obo/MONDO_0001242	UMLS:C0158992|http://identifiers.org/snomedct/34417008|DOID:11246|NCIT:C111856	
MONDO:0001241	biolink:Disease	transient neonatal neutropenia		ICD9:776.7|DOID:11245|SCTID:55444004|ICD10CM:P61.5|UMLS:C0158997	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001241	UMLS:C0158997|http://purl.bioontology.org/ontology/ICD10CM/P61.5|DOID:11245|http://identifiers.org/snomedct/55444004	
MONDO:0001240	biolink:Disease	neonatal anemia	The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation.	UMLS:C0002891|SCTID:234350007|DOID:11244|MESH:D000751	mondo.json	anemia neonatal	http://purl.obolibrary.org/obo/MONDO_0001240	DOID:11244|http://identifiers.org/snomedct/234350007|UMLS:C0002891|http://identifiers.org/mesh/D000751	
HGNC:26894	biolink:NamedThing	TPRN			mondo.json		http://identifiers.org/hgnc/26894		
MONDO:0015898	biolink:Disease	adrenogenital syndrome	Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children.	MESH:D047808|ICD9:255.2|UMLS:CN200506|Orphanet:181412|UMLS:C0302280|MedDRA:10061630|SCTID:267395000	mondo.json	androgenital syndrome|congenital adrenal hyperplasia|adrenogenital syndrome|adrenogenital disorder	http://purl.obolibrary.org/obo/MONDO_0015898	http://identifiers.org/snomedct/267395000|http://identifiers.org/mesh/D047808|UMLS:C0302280|Orphanet:181412|UMLS:CN200506	ordo_group_of_disorders|disease_grouping
MONDO:0013235	biolink:Disease	pancreatic cancer, susceptibility to, 2	Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA2 gene.	OMIM:613347	mondo.json	Pnca2|pancreatic cancer 2|pancreatic cancer, susceptibility to, 2|BRCA2 familial pancreatic carcinoma|susceptibility to pancreatic cancer 2|familial pancreatic carcinoma caused by mutation in BRCA2|pancreatic cancer, susceptibility to, type 2	http://purl.obolibrary.org/obo/MONDO_0013235	https://omim.org/entry/613347	predisposition
MONDO:0013236	biolink:Disease	pancreatic cancer, susceptibility to, 3	Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALB2 gene.	OMIM:613348	mondo.json	Pnca3|PALB2 familial pancreatic carcinoma|familial pancreatic carcinoma caused by mutation in PALB2|pancreatic cancer, susceptibility to, 3|susceptibility to pancreatic cancer 3|pancreatic cancer, susceptibility to, type 3	http://purl.obolibrary.org/obo/MONDO_0013236	https://omim.org/entry/613348	predisposition
MONDO:0015897	biolink:Disease	obsolete rare hyperparathyroidism	OBSOLETE. Rare hyperparathyroidism.	Orphanet:181408	mondo.json	rare hyperparathyroidism	http://purl.obolibrary.org/obo/MONDO_0015897	Orphanet:181408	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0015896	biolink:Disease	obsolete rare hypoparathyroidism	OBSOLETE. Rare hypoparathyroidism.	Orphanet:181405	mondo.json	rare hypoparathyroidism	http://purl.obolibrary.org/obo/MONDO_0015896	Orphanet:181405	obsoletion_candidate|clingen|ordo_group_of_disorders|disease_grouping
MONDO:0013233	biolink:Disease	spondyloepimetaphyseal dysplasia, Handigodu type	A rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging.	OMIM:613343|UMLS:C3150545|Orphanet:99642	mondo.json	spondyloepimetaphyseal dysplasia, Handigodu type|Hjd|Handigodu JOINT disease	http://purl.obolibrary.org/obo/MONDO_0013233	UMLS:C3150545|https://omim.org/entry/613343|Orphanet:99642	ordo_disease
MONDO:0015895	biolink:Disease	obsolete syndrome with hypoparathyroidism		Orphanet:181402|UMLS:CN200505	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015895	Orphanet:181402|UMLS:CN200505	ordo_group_of_disorders
MONDO:0013234	biolink:Disease	hypokalemic periodic paralysis, type 2		OMIM:613345|UMLS:C2750061|MESH:C567635	mondo.json	hypokalemic periodic paralysis, type 2|HOKPP2	http://purl.obolibrary.org/obo/MONDO_0013234	UMLS:C2750061|https://omim.org/entry/613345|http://identifiers.org/mesh/C567635	
MONDO:0013239	biolink:Disease	hereditary spastic paraplegia 41	Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.	SCTID:763069002|Orphanet:320355|DOID:0110793|OMIM:613364|UMLS:CN203988	mondo.json	hereditary spastic paraplegia type 41|autosomal dominant spastic paraplegia 41|autosomal dominant spastic paraplegia type 41|SPG41|spastic paraplegia 41, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0013239	Orphanet:320355|DOID:0110793|http://identifiers.org/snomedct/763069002|https://omim.org/entry/613364|UMLS:CN203988	ordo_disease
MONDO:0013237	biolink:Disease	susceptibility to mononeuropathy of the median nerve, mild		OMIM:613353|UMLS:C3150596	mondo.json	mononeuropathy of the median nerve, mild|carpal tunnel syndrome, susceptibility to|MNMN	http://purl.obolibrary.org/obo/MONDO_0013237	UMLS:C3150596|https://omim.org/entry/613353	
MONDO:0013238	biolink:Disease	chromosome 17q23.1-q23.2 deletion syndrome	17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.	UMLS:C3150607|Orphanet:261279|UMLS:C4304591|GARD:0010936|OMIM:613355|SCTID:719584008|DOID:0060405	mondo.json	17q23.1q23.2 microdeletion syndrome|Del(17)(q23.1q23.2)|chromosome 17q23.1-q23.2 deletion syndrome, isolated cases|monosomy 17q23.1-q23.2|monosomy 17q23.1q23.2|17q23.1-q23.2 microdeletion syndrome|chromosome 17q23.1-q23.2 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013238	UMLS:C4304591|UMLS:C3150607|DOID:0060405|https://omim.org/entry/613355|http://identifiers.org/snomedct/719584008|Orphanet:261279	ordo_malformation_syndrome
MONDO:0015899	biolink:Disease	obsolete rare primary hyperaldosteronism	OBSOLETE. Any of the forms of primary aldosteronism that have a rare incidence.	Orphanet:181415	mondo.json	rare Conn's syndrome|rare primary aldosteronism|rare Conn syndrome	http://purl.obolibrary.org/obo/MONDO_0015899	Orphanet:181415	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0015890	biolink:Disease	obsolete rare disorder with congenital hypogonadotropic hypogonadism		Orphanet:181387	mondo.json	rare disorder with hypogonadotropic hypogonadism|rare disorder with secondary hypogonadism	http://purl.obolibrary.org/obo/MONDO_0015890	Orphanet:181387	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0013231	biolink:Disease	Leber congenital amaurosis 14	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LRAT gene.	UMLS:C2750063|OMIM:613341|DOID:0110188|ICD10CM:H35.5|MESH:C567636|Orphanet:791|GARD:0010883	mondo.json	Leber congenital amaurosis type 14|retinitis pigmentosa, juvenile|LCA14|retinal dystrophy, early-onset Severe, LRAT-related|retinal dystrophy, early-onset severe|Leber congenital amaurosis caused by mutation in LRAT|LRAT Leber congenital amaurosis|Leber congenital amaurosis 14|retinitis pigmentosa, juvenile, LRAT-related	http://purl.obolibrary.org/obo/MONDO_0013231	DOID:0110188|UMLS:C2750063|https://omim.org/entry/613341|http://identifiers.org/mesh/C567636	gard_rare
MONDO:0015894	biolink:Disease	obsolete rare hyperthyroidism	OBSOLETE. Any of the forms of hyperthyroidism that have a rare incidence.	Orphanet:181399	mondo.json	rare hyperthyroidism	http://purl.obolibrary.org/obo/MONDO_0015894	Orphanet:181399	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0015893	biolink:Disease	obsolete rare hypothyroidism	OBSOLETE. Any of the forms of hypothyroidism that have a rare incidence.	Orphanet:181396	mondo.json	rare hypothyroidism	http://purl.obolibrary.org/obo/MONDO_0015893	Orphanet:181396	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0013232	biolink:Disease	brachydactylous dwarfism, Mseleni type	Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD.	OMIM:613342|Orphanet:2619|UMLS:C2931420|SCTID:715470008|MESH:C537086|GARD:0000960	mondo.json	Mseleni joint disease|brachydactylous dwarfs of Mseleni|brachydactylous dwarfism Mseleni type|Mseleni JOINT disease	http://purl.obolibrary.org/obo/MONDO_0013232	https://omim.org/entry/613342|UMLS:C2931420|http://identifiers.org/mesh/C537086|Orphanet:2619|http://identifiers.org/snomedct/715470008	ordo_disease
MONDO:0015892	biolink:Disease	growth hormone insensitivity syndrome	Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency.	UMLS:CN200504|NCIT:C129867|GARD:0003924|UMLS:C4318479|UMLS:C0271568|Orphanet:181393	mondo.json	GHIS|short stature due to a defect in growth hormone receptor or post-receptor pathway|Growth hormone insensitivity syndromes	http://purl.obolibrary.org/obo/MONDO_0015892	UMLS:C0271568|UMLS:C4318479|Orphanet:181393|UMLS:CN200504|NCIT:C129867	disease_grouping|ordo_group_of_disorders
MONDO:0013230	biolink:Disease	epilepsy, hot water, 2		OMIM:613340|UMLS:C3150536	mondo.json	HWE2|epilepsy, hot water, 2	http://purl.obolibrary.org/obo/MONDO_0013230	UMLS:C3150536|https://omim.org/entry/613340	
MONDO:0015891	biolink:Disease	obsolete hypogonadotropic hypogonadism associated with other endocrinopathies		Orphanet:181390	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015891	Orphanet:181390	ordo_group_of_disorders|disease_grouping
MONDO:0001257	biolink:Disease	retinal microaneurysm		ICD9:362.14|SCTID:34037000|DOID:11295|UMLS:C0154834	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001257	http://identifiers.org/snomedct/34037000|DOID:11295|UMLS:C0154834	
MONDO:0001256	biolink:Disease	arteriovenous hemangioma/malformation	A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures.	SCTID:233982006|NCIT:C2882|UMLS:C0334533|ICDO:9123/0|CSP:0571-2717|HP:0100026|DOID:11294|MESH:D001165	mondo.json	cirsoid aneurysm|racemose hemangioma (morphologic abnormality)|arteriovenous hemangioma|arteriovenous malformation|racemose hemangioma|racemose angioma|racemose aneurysm (morphologic abnormality)|racemose aneurysm|arteriovenous angioma|arteriovenous hemangioma/malformation	http://purl.obolibrary.org/obo/MONDO_0001256	DOID:11294|http://identifiers.org/snomedct/233982006|UMLS:C0334533|http://identifiers.org/mesh/D001165|NCIT:C2882	
HGNC:24249	biolink:NamedThing	YARS2			mondo.json		http://identifiers.org/hgnc/24249		
MONDO:0001255	biolink:Disease	ventilation pneumonitis	An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease.	DOID:11289|ICD9:495.7|SCTID:195990006|UMLS:C0155891	mondo.json	ventilation systems lung|humidifier lung|Air-conditioner and humidifier lung|humidifiers lung	http://purl.obolibrary.org/obo/MONDO_0001255	http://identifiers.org/snomedct/195990006|DOID:11289|UMLS:C0155891	
HGNC:24247	biolink:NamedThing	GLYCTK			mondo.json		http://identifiers.org/hgnc/24247		
MONDO:0001254	biolink:Disease	obsolete peripheral scars of retina		DOID:11283|ICD9:363.34	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001254	DOID:11283	
MONDO:0001259	biolink:Disease	pituitary gland infarction	Ischemic necrosis of the pituitary gland.	DOID:1130|SCTID:95830009|UMLS:C0342405|ICD9:253.8|NCIT:C27117	mondo.json	pituitary gland infarction|pituitary infarct|pituitary infarction	http://purl.obolibrary.org/obo/MONDO_0001259	UMLS:C0342405|NCIT:C27117|DOID:1130|http://identifiers.org/snomedct/95830009	
MONDO:0001258	biolink:Disease	vertebral artery occlusion		ICD10CM:I65.0|ICD9:433.21|ICD9:433.20|SCTID:195182007|DOID:11299|ICD9:433.2	mondo.json	vertebral artery occlusion|occlusion and stenosis of vertebral artery|vertebrobasial artery occlusion	http://purl.obolibrary.org/obo/MONDO_0001258	DOID:11299|http://purl.bioontology.org/ontology/ICD10CM/I65.0|http://identifiers.org/snomedct/195182007	
MONDO:0013219	biolink:Disease	hypophosphatemic rickets, autosomal recessive, 2	Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene.	MESH:C567647|OMIM:613312|UMLS:C2750078	mondo.json	ENPP1 autosomal recessive hypophosphatemic rickets|hypophosphatemic rickets, autosomal recessive, type 2|autosomal recessive hypophosphatemic rickets caused by mutation in ENPP1|ARHR2|hypophosphatemic rickets, autosomal recessive, 2	http://purl.obolibrary.org/obo/MONDO_0013219	http://identifiers.org/mesh/C567647|UMLS:C2750078|https://omim.org/entry/613312	
MONDO:0001253	biolink:Disease	obsolete solar retinopathy		UMLS:C0152131|SCTID:1135000|DOID:11282|ICD9:363.31	mondo.json	solar retinitis	http://purl.obolibrary.org/obo/MONDO_0001253	DOID:11282|UMLS:C0152131|http://identifiers.org/snomedct/1135000	
MONDO:0001252	biolink:Disease	Plummer disease	Nodular enlargement of the thyroid gland associated with hyperthyroidism.	ICD9:242.30|DOID:11277|NCIT:C35171|UMLS:C0342127|SCTID:57777000|ICD9:242.3|EFO:0009191	mondo.json	Toxic goiter|toxic nodular goiter|Plummer disease|Plummer's disease	http://purl.obolibrary.org/obo/MONDO_0001252	DOID:11277|NCIT:C35171|http://identifiers.org/snomedct/57777000|UMLS:C0342127	
HGNC:24245	biolink:NamedThing	DRC1			mondo.json		http://identifiers.org/hgnc/24245		
MONDO:0001251	biolink:Disease	chronic apical periodontitis	Chronic form of periapical periodontitis.	DOID:11269|ICD9:522.6|ICD10CM:K04.5|SCTID:718052004|UMLS:C0392492	mondo.json	periapical periodontitis, chronic|chronic periapical periodontitis	http://purl.obolibrary.org/obo/MONDO_0001251	DOID:11269|http://purl.bioontology.org/ontology/ICD10CM/K04.5|UMLS:C0392492|http://identifiers.org/snomedct/718052004	
MONDO:0001250	biolink:Disease	keratomalacia	An eye disorder that results from vitamin A deficiency, with basis in disruption of maintenance of the specialized epithelial surfaces, leading to atrophic changes in the normal mucosal surface, with loss of goblet cells, and replacement of the normal epithelium by an inappropriate keratinized stratified squamous epithelium. In addition, the substantia propria of the cornea breaks down and liquefies, resulting in keratomalacia.	MESH:C536156|DOID:11267|UMLS:C0152455|ICD9:371.45|SCTID:85149007|GARD:0006825	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001250	DOID:11267|UMLS:C0152455|http://identifiers.org/mesh/C536156|http://identifiers.org/snomedct/85149007	
MONDO:0015887	biolink:Disease	obsolete rare diabetes mellitus type 2		Orphanet:181376	mondo.json	rare insulin-independent diabetes mellitus	http://purl.obolibrary.org/obo/MONDO_0015887	Orphanet:181376	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0013224	biolink:Disease	rhabdoid tumor predisposition syndrome 2	Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene.	OMIM:613325|MESH:C567643|UMLS:C2750074	mondo.json	rhabdoid tumor predisposition syndrome 2|familial rhabdoid tumor caused by mutation in SMARCA4|SMARCA4 familial rhabdoid tumor|RTPS2|rhabdoid tumor predisposition syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0013224	UMLS:C2750074|https://omim.org/entry/613325|http://identifiers.org/mesh/C567643	
MONDO:0013225	biolink:Disease	congenital generalized lipodystrophy type 4	Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene.	OMIM:613327|Orphanet:228429|MESH:C567642|DOID:0111138|GARD:0010937|UMLS:C2750069	mondo.json	CGL4|GCL4|CAVIN1 congenital generalized lipodystrophy (disease)|generalized congenital lipodystrophy with myopathy|Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy|Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy|congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1|lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy|generalized congenital lipodystrophy type 4|BSCL4|lipodystrophy, congenital generalized, type 4	http://purl.obolibrary.org/obo/MONDO_0013225	http://identifiers.org/mesh/C567642|DOID:0111138|UMLS:C2750069|https://omim.org/entry/613327|Orphanet:228429	ordo_disease
MONDO:0015886	biolink:Disease	obsolete rare diabetes mellitus type 1	OBSOLETE. Any of the forms of type 1 diabetes mellitus that have a rare incidence.	Orphanet:181371	mondo.json	rare type 1 diabetes mellitus|rare insulin-dependent diabetes mellitus	http://purl.obolibrary.org/obo/MONDO_0015886	Orphanet:181371	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
HGNC:12269	biolink:NamedThing	TREX1			mondo.json		http://identifiers.org/hgnc/12269		
MONDO:0013222	biolink:Disease	Miyoshi muscular dystrophy 3		DOID:0070201|Orphanet:399096|UMLS:C2750076|OMIM:613319|MESH:C567645	mondo.json	Miyoshi muscular dystrophy 3|distal anoctaminopathy|MMD3|Miyoshi muscular dystrophy type 3|Miyoshi myopathy 3	http://purl.obolibrary.org/obo/MONDO_0013222	UMLS:C2750076|https://omim.org/entry/613319|DOID:0070201|http://identifiers.org/mesh/C567645|Orphanet:399096	ordo_disease
MONDO:0015885	biolink:Disease	obsolete rare insulin-resistance syndrome	OBSOLETE. A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome.	Orphanet:181368|UMLS:C3714619|NCIT:C113169	mondo.json	insulin Resistance syndrome	http://purl.obolibrary.org/obo/MONDO_0015885	NCIT:C113169|UMLS:C3714619|Orphanet:181368	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0015884	biolink:Disease	autosomal dominant hypohidrotic ectodermal dysplasia	Autosomal dominant form of hypohidrotic ectodermal dysplasia.	Orphanet:1810	mondo.json	AD-HED|autosomal dominant anhidrotic ectodermal dysplasia|hypohidrotic ectodermal dysplasia, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0015884	Orphanet:1810	ordo_etiological_subtype
MONDO:0013223	biolink:Disease	autosomal recessive spondylometaphyseal dysplasia, Megarbane type	Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene.	MESH:C567644|OMIM:613320|UMLS:C2750075|Orphanet:401979	mondo.json	SMDMDM|spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type|PAM16 spondylodysplastic dysplasia|spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type|autosomal recessive spondylometaphyseal dysplasia, Mégarbané type|chondrodysplasia, Megarbane-Dagher-Melki type|spondylodysplastic dysplasia caused by mutation in PAM16	http://purl.obolibrary.org/obo/MONDO_0013223	UMLS:C2750075|https://omim.org/entry/613320|Orphanet:401979|http://identifiers.org/mesh/C567644	ordo_malformation_syndrome
MONDO:0013228	biolink:Disease	spondylo-megaepiphyseal-metaphyseal dysplasia		UMLS:C2750066|OMIM:613330|Orphanet:228387|MESH:C567639	mondo.json	SMMD|spondylo-megaepiphyseal-metaphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0013228	http://identifiers.org/mesh/C567639|UMLS:C2750066|https://omim.org/entry/613330|Orphanet:228387	ordo_disease
MONDO:0013229	biolink:Disease	hot water reflex epilepsy	Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.	SCTID:230454005|OMIMPS:613339|UMLS:CN200053|ICD9:345.10|Orphanet:166412|UMLS:C0393729	mondo.json	water immersion epilepsy|epilepsy, hot water|hot water epilepsy|bathing epilepsy	http://purl.obolibrary.org/obo/MONDO_0013229	UMLS:CN200053|http://identifiers.org/snomedct/230454005|https://omim.org/phenotypicSeries/PS613339|UMLS:C0393729|Orphanet:166412	ordo_disease
MONDO:0015889	biolink:Disease	obsolete rare hypothalamic or pituitary disease		UMLS:CN200503|Orphanet:181384	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015889	Orphanet:181384|UMLS:CN200503	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0013226	biolink:Disease	combined immunodeficiency with faciooculoskeletal anomalies	Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).	UMLS:C2750068|MESH:C567641|Orphanet:221139|OMIM:613328	mondo.json	Roifman-Chitayat syndrome|ROIFMAN-Chitayat syndrome|Roifman-Chitayat syndrome, digenic|combined immunodeficiency, Facial Dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay	http://purl.obolibrary.org/obo/MONDO_0013226	http://identifiers.org/mesh/C567641|UMLS:C2750068|Orphanet:221139|https://omim.org/entry/613328	ordo_disease
MONDO:0015888	biolink:Disease	obsolete other rare diabetes mellitus		Orphanet:181381|UMLS:CN226773	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015888	UMLS:CN226773|Orphanet:181381	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0013227	biolink:Disease	congenital plasminogen activator inhibitor type 1 deficiency	Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.	Orphanet:465|MESH:C567640|SCTID:717407006|NCIT:C133884|OMIM:613329|GARD:0004381	mondo.json	congenital PAI-1 deficiency|congenital plasminogen activator inhibitor type 1 deficiency|plasminogen activator inhibitor type 1 deficiency|hyperfibrinolysis due to Pai1 deficiency|plasminogen activator INHIBITOR-1 deficiency	http://purl.obolibrary.org/obo/MONDO_0013227	http://identifiers.org/mesh/C567640|Orphanet:465|NCIT:C133884|http://identifiers.org/snomedct/717407006|https://omim.org/entry/613329	ordo_disease
SO:0001877	biolink:SequenceFeature	lncRNA	A non-coding RNA over 200nucleotides in length.		mondo.json	INSDC_qualifier:lncRNA|long non-coding RNA|lncRNA_transcript|INSDC_feature:ncRNA	http://purl.obolibrary.org/obo/SO_0001877		
HGNC:12261	biolink:NamedThing	TRDN			mondo.json		http://identifiers.org/hgnc/12261		
MONDO:0013220	biolink:Disease	hemochromatosis type 2B	Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene.	UMLS:C1865616|OMIM:613313|DOID:0111032|MESH:C566557	mondo.json	HAMP hemochromatosis type 2|hemochromatosis, type 2B|hemochromatosis type 2 caused by mutation in HAMP|HFE2B	http://purl.obolibrary.org/obo/MONDO_0013220	https://omim.org/entry/613313|UMLS:C1865616|DOID:0111032|http://identifiers.org/mesh/C566557	
MONDO:0015883	biolink:Disease	hidrotic ectodermal dysplasia, Halal type	Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner.	MESH:C535621|Orphanet:1809|UMLS:C2930953|GARD:0000280|SCTID:721147000	mondo.json	ectodermal dysplasia with skin anomalies and intellectual disability|hidrotic ectodermal dysplasia Halal type|trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome|Halal Setton Wang syndrome|Halal-Setton-Wang syndrome	http://purl.obolibrary.org/obo/MONDO_0015883	http://identifiers.org/snomedct/721147000|http://identifiers.org/mesh/C535621|UMLS:C2930953|Orphanet:1809	ordo_malformation_syndrome
HGNC:12266	biolink:NamedThing	TREH			mondo.json		http://identifiers.org/hgnc/12266		
MONDO:0015882	biolink:Disease	obsolete rare tumor of pancreas	OBSOLETE. Any of the forms of pancreatic neoplasm that have a rare incidence.	MedDRA:10061902|Orphanet:180824	mondo.json	rare pancreas neoplasm|rare pancreatic neoplasm|rare pancreas tumor|rare pancreatic tumor	http://purl.obolibrary.org/obo/MONDO_0015882	Orphanet:180824	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0013221	biolink:Disease	Miyoshi muscular dystrophy 2		DOID:0070200|UMLS:C2750077|OMIM:613318|MESH:C567646	mondo.json	Miyoshi muscular dystrophy 2|MMD2|Miyoshi myopathy 2|MIYOSHI muscular dystrophy 2	http://purl.obolibrary.org/obo/MONDO_0013221	UMLS:C2750077|https://omim.org/entry/613318|DOID:0070200|http://identifiers.org/mesh/C567646	
MONDO:0015881	biolink:Disease	obsolete gastroesophageal tumor	OBSOLETE. A tumor involving the gastroesophageal tissue.	Orphanet:180821|UMLS:CN200488	mondo.json	rare gastroesophageal tumor	http://purl.obolibrary.org/obo/MONDO_0015881	Orphanet:180821|UMLS:CN200488	ordo_group_of_disorders|disease_grouping
MONDO:0015880	biolink:Disease	obsolete syndromic diaphragmatic or thoracic malformation		UMLS:CN226770|Orphanet:180779	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015880	UMLS:CN226770|Orphanet:180779	
MONDO:0003887	biolink:Disease	ovarian mucinous adenofibroma	A benign neoplasm of the ovary characterized by the presence of glands with mucinous columnar epithelial cells in a fibrotic stroma.	DOID:6469|UMLS:C1518723|NCIT:C40040	mondo.json	ovarian mucinous adenofibroma|mucinous adenofibroma of ovary|ovary mucinous adenofibroma	http://purl.obolibrary.org/obo/MONDO_0003887	DOID:6469|UMLS:C1518723|NCIT:C40040	
MONDO:0001224	biolink:Disease	Angelucci syndrome	Atopic conjunctivitis that is of relatively short duration and that has a rapid onset.	SCTID:67678004|NCIT:C34353|ICD10CM:H10.1|UMLS:C0001309|DOID:11203|ICD9:372.05	mondo.json	Angelucci's syndrome|Angelucci syndrome|acute atopic conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0001224	UMLS:C0001309|NCIT:C34353|DOID:11203|http://purl.bioontology.org/ontology/ICD10CM/H10.1|http://identifiers.org/snomedct/67678004	
NCBITaxon:11320	biolink:OrganismalEntity	Influenza A virus		GC_ID:1	mondo.json	FLUAV|Human Influenza A Virus|Influenza virus type A	http://purl.obolibrary.org/obo/NCBITaxon_11320		
MONDO:0003888	biolink:Disease	childhood testicular mixed embryonal carcinoma and teratoma	A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components.	UMLS:C1333008|DOID:6474|NCIT:C6539	mondo.json	childhood teratocarcinoma of testis|childhood testicular teratocarcinoma|childhood teratocarcinoma of the testis|childhood testicular mixed embryonal carcinoma and teratoma|pediatric testicular teratocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003888	DOID:6474|NCIT:C6539|UMLS:C1333008	
MONDO:0001223	biolink:Disease	parathyroid gland disorder	A disease involving the parathyroid gland.	EFO:0005754|UMLS:C0030517|ICD9:252.9|DOID:11201|ICD9:252|SCTID:73132005|MESH:D010279|NCIT:C26844|ICD9:252.8	mondo.json	parathyroid disease|parathyroid gland diseases|disease or disorder of parathyroid gland|disease of parathyroid glands|parathyroid gland disorders|parathyroid gland disease|disease of parathyroid gland|parathyroid gland disorder|parathyroid gland disease or disorder|disorder of parathyroid gland	http://purl.obolibrary.org/obo/MONDO_0001223	UMLS:C0030517|http://identifiers.org/snomedct/73132005|http://identifiers.org/mesh/D010279|DOID:11201|NCIT:C26844	
HGNC:26877	biolink:NamedThing	CKAP2L			mondo.json		http://identifiers.org/hgnc/26877		
MONDO:0003889	biolink:Disease	infiltrating bladder urothelial carcinoma, clear cell variant	An invasive transitional cell carcinoma of the bladder characterized by the presence of clear cells.	NCIT:C39827|UMLS:C1512737|DOID:6476	mondo.json	clear cell variant infiltrating bladder urothelial carcinoma|infiltrating bladder urothelial carcinoma, clear cell variant	http://purl.obolibrary.org/obo/MONDO_0003889	DOID:6476|UMLS:C1512737|NCIT:C39827	
MONDO:0001222	biolink:Disease	congenital T-cell immunodeficiency	A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective.	NCIT:C27872|UMLS:C1333147|DOID:11200	mondo.json	congenital T-cell immunodeficiency|T cell deficiency	http://purl.obolibrary.org/obo/MONDO_0001222	DOID:11200|NCIT:C27872|UMLS:C1333147	
MONDO:0001221	biolink:Disease	esophageal varices	Abnormally dilated veins of the esophagus.	ICD9:456.2|ICD9:456.0|GARD:0006384|NCIT:C53506|ICD10CM:I85|DOID:112|ICD9:456.20|MESH:D004932|SCTID:28670008	mondo.json	esophageal varices in disease classified elsewhere, with bleeding|bleeding esophageal varices|bleeding oesophageal varices|varicose disease of esophagus|esophageal varices without mention of bleeding|esophageal varix|esophageal varices|esophageal varices with bleeding in disease EC|esophagus varicose disease	http://purl.obolibrary.org/obo/MONDO_0001221	DOID:112|http://purl.bioontology.org/ontology/ICD10CM/I85|http://identifiers.org/snomedct/28670008|http://identifiers.org/mesh/D004932|NCIT:C53506	
MONDO:0003883	biolink:Disease	obsolete cerebellar liponeurocytoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003883		
MONDO:0001228	biolink:Disease	conjunctival folliculosis		SCTID:41308008|ICD9:372.02|DOID:11219|UMLS:C0155143	mondo.json	acute follicular conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0001228	UMLS:C0155143|http://identifiers.org/snomedct/41308008|DOID:11219	
MONDO:0003884	biolink:Disease	lipoma of the rectum	A benign adipose tissue neoplasm of the rectum.	DOID:6459|UMLS:C1335684|NCIT:C5551	mondo.json	lipoma of rectum|rectal lipoma|rectum lipoma	http://purl.obolibrary.org/obo/MONDO_0003884	NCIT:C5551|UMLS:C1335684|DOID:6459	
MONDO:0001227	biolink:Disease	chronic tympanitis	Chronic form of tympanitis.	UMLS:C0395849|DOID:11217|ICD9:384.1|SCTID:89723004	mondo.json	tympanitis, chronic	http://purl.obolibrary.org/obo/MONDO_0001227	http://identifiers.org/snomedct/89723004|DOID:11217|UMLS:C0395849	
MONDO:0003885	biolink:Disease	colorectal lipoma	A rare benign adipose tissue neoplasm arising from the wall of the colon and rectum.	NCIT:C5678|DOID:6460|UMLS:C1333114	mondo.json	lipoma of the large bowel|large bowel lipoma|lipoma of large bowel|large intestine lipoma|colorectal lipoma|lipoma of large intestine|lipoma of the large intestine	http://purl.obolibrary.org/obo/MONDO_0003885	NCIT:C5678|UMLS:C1333114|DOID:6460	
MONDO:0001226	biolink:Disease	acute contagious conjunctivitis	Acute inflammation of the conjunctiva characterized by pink or red color in the eyes.	ICD9:041.89|SCTID:399219006|DOID:11213|NCIT:C35704|UMLS:C1313983	mondo.json	Contagious opthalmia|pinkeye|conjunctivitis infective	http://purl.obolibrary.org/obo/MONDO_0001226	NCIT:C35704|UMLS:C1313983|DOID:11213|http://identifiers.org/snomedct/399219006	
MONDO:0001225	biolink:Disease	opioid abuse	A substance abuse that involves the recurring use of opioid drugs despite negative consequences.	ICD9:305.5|SCTID:5602001|DOID:11206	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001225	DOID:11206|http://identifiers.org/snomedct/5602001	
MONDO:0003886	biolink:Disease	mucinous cystadenofibroma	A benign neoplasm characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma.	UMLS:C1377844|DOID:6468|NCIT:C8979	mondo.json	mucinous cystadenofibroma	http://purl.obolibrary.org/obo/MONDO_0003886	NCIT:C8979|UMLS:C1377844|DOID:6468	
MONDO:0003880	biolink:Disease	ceruminous carcinoma	An infiltrating adenocarcinoma derived from ceruminous glands in the external auditory canal.	ICDO:8420/3|DOID:6446|UMLS:C0334353|NCIT:C4176	mondo.json	ceruminous adenocarcinoma (morphologic abnormality)|ceruminous adenocarcinoma|carcinoma, ceruminous gland, malignant	http://purl.obolibrary.org/obo/MONDO_0003880	NCIT:C4176|UMLS:C0334353|DOID:6446	
MONDO:0013208	biolink:Disease	cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome		DOID:0080536|OMIM:613280|ICD9:277.89|UMLS:CN035550|Orphanet:309854|SCTID:702377007|MESH:C548016|GARD:0010706	mondo.json	cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome|hypermanganesemia with dystonia polycythemia and cirrhosis|hypermanganesemia with dystonia 1|HMDPC|hypermanganesemia with dystonia, polycythemia, and cirrhosis|HMNDYT1	http://purl.obolibrary.org/obo/MONDO_0013208	DOID:0080536|http://identifiers.org/mesh/C548016|http://identifiers.org/snomedct/702377007|https://omim.org/entry/613280|Orphanet:309854|UMLS:CN035550	ordo_disease
MONDO:0003881	biolink:Disease	vulvar apocrine adenocarcinoma	An apocrine adenocarcinoma that arises from the sweat glands in the vulva.	DOID:6448|UMLS:C2202741|NCIT:C40308	mondo.json	apocrine adenocarcinoma of mammalian vulva|mammalian vulva apocrine adenocarcinoma|vulvar apocrine adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003881	NCIT:C40308|UMLS:C2202741|DOID:6448	
MONDO:0013209	biolink:Disease	non-alcoholic fatty liver disease	A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use.	EFO:0003095|Orphanet:33271|MedDRA:10029530|NCIT:C84444|EFO:1001248|ICD9:571.8|SCTID:197315008|DOID:0080208|MESH:D065626	mondo.json	fatty liver disease, nonalcoholic|non-alcoholic fatty liver|liver disease, alcoholic, susceptibility to, 1|NAFLD1|NAFLD - nonalcoholic fatty liver disease|NAFLD|non-alcoholic fatty liver disease|fatty liver disease, nonalcoholic, susceptibility to, 1|nonalcoholic fatty liver disease	http://purl.obolibrary.org/obo/MONDO_0013209	Orphanet:33271|DOID:0080208|http://identifiers.org/snomedct/197315008|http://identifiers.org/mesh/D065626|NCIT:C84444	predisposition
MONDO:0003882	biolink:Disease	central nervous system fibrosarcoma	A usually aggressive malignant neoplasm arising from the central nervous system. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	NCIT:C5465|UMLS:C1332879|DOID:6451	mondo.json	CNS fibrosarcoma|central nervous system fibrosarcoma|fibrosarcoma of the CNS|central nervous system fibrosarcoma (disease)|fibrosarcoma of central nervous system|fibrosarcoma of the central nervous system|fibrosarcoma of CNS	http://purl.obolibrary.org/obo/MONDO_0003882	UMLS:C1332879|NCIT:C5465|DOID:6451	
MONDO:0001220	biolink:Disease	hypoparathyroidism	Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms includeabdominal pain, brittle nails, cataracts, dry hair and skin,muscle cramps,tetany, pain in the face, legs, and feet, seizures, tingling sensation,and weakened tooth enamel (in children). It may be caused byinjury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body.	SCTID:36976004|GARD:0006733|NCIT:C78350|DOID:11199|MESH:D007011|ICD9:252.1|ICD10CM:E20	mondo.json	hypoparathyroidism, idiopathic (subtype)|parathyroid, underactivity of	http://purl.obolibrary.org/obo/MONDO_0001220	http://identifiers.org/mesh/D007011|http://purl.bioontology.org/ontology/ICD10CM/E20|http://identifiers.org/snomedct/36976004|DOID:11199|NCIT:C78350	gard_rare
MONDO:0040872	biolink:Disease	non-psychogenic polydipsia	A form of primary polydipsia not caused by underlying psychiatric symptoms.		mondo.json	idiopathic polydipsia	http://purl.obolibrary.org/obo/MONDO_0040872		
MONDO:0040871	biolink:Disease	psychogenic polydipsia	A form of primary polydipsia caused by underlying psychiatric symptoms, including those caused by psychoses and rarely by affective disorders.	SCTID:15945005	mondo.json	psychogenic polydipsia	http://purl.obolibrary.org/obo/MONDO_0040871	http://identifiers.org/snomedct/15945005	
HGNC:24212	biolink:NamedThing	CISD2			mondo.json		http://identifiers.org/hgnc/24212		
MONDO:0040870	biolink:Disease	primary polydipsia	A form of polydipsia characterised by excessive fluid intake in the absence of physiological stimuli to drink.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0040870		
NCIT:C17828	biolink:NamedThing	Biological Process			mondo.json		http://purl.obolibrary.org/obo/NCIT_C17828		
MONDO:0013213	biolink:Disease	hearing loss, cisplatin-induced, susceptibility to		OMIM:613290	mondo.json	hearing loss, cisplatin-induced, susceptibility to|CIHL	http://purl.obolibrary.org/obo/MONDO_0013213	https://omim.org/entry/613290	
MONDO:0015876	biolink:Disease	obsolete rare vulvovaginal tumor		UMLS:CN200482|Orphanet:180312	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015876	UMLS:CN200482|Orphanet:180312	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
CL:0002364	biolink:Cell	cortical thymic epithelial cell	An epithelial cell of the cortical portion of the thymus. Epithelial cells in this region are required for positive selection of CD8-positive T cells.	BTO:0004562	mondo.json	cTEC	http://purl.obolibrary.org/obo/CL_0002364		
MONDO:0015875	biolink:Disease	obsolete rare non-malformative uterine adnexal disease		UMLS:CN200481|Orphanet:180303	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015875	UMLS:CN200481|Orphanet:180303	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0013214	biolink:Disease	bile acid malabsorption, primary		Orphanet:449262|MESH:C567652|OMIM:613291|UMLS:C2750087	mondo.json	bile acid malabsorption, primary|PBAM|Bile acid malabsorption, primary, 1	http://purl.obolibrary.org/obo/MONDO_0013214	http://identifiers.org/mesh/C567652|Orphanet:449262|UMLS:C2750087|https://omim.org/entry/613291	
CL:0002363	biolink:Cell	keratocyte	A keratocyte is a specialized fibroblast residing in the cornea stroma that has a flattened, dendritic cell located between the lamellae with a large flattened nucleus and lengthy processes which communicate with neighboring cells. This corneal layer, representing about 85-90% of corneal thickness, is built up from highly regular collagenous lamellae and extracellular matrix components. Keratocytes play the major role in keeping it transparent, healing its wounds, and synthesizing its components. This cell type secretes collagen I, V, VI, and keratin sulfate.		mondo.json	corneal fibroblast|corneal keratocyte	http://purl.obolibrary.org/obo/CL_0002363		
MONDO:0013211	biolink:Disease	dilated cardiomyopathy 1FF	A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42.	MESH:C567654|DOID:0110459|OMIM:613286|UMLS:C2750091	mondo.json	dilated cardiomyopathy type 1FF|cardiomyopathy, dilated, type 1Ff|CMD1FF|cardiomyopathy, dilated, 1FF	http://purl.obolibrary.org/obo/MONDO_0013211	http://identifiers.org/mesh/C567654|DOID:0110459|UMLS:C2750091|https://omim.org/entry/613286	
CL:0002366	biolink:Cell	myometrial cell	A smooth muscle cell of the myometrium that enlarges and stretches during pregnancy, and contracts in response to oxytocin.	BTO:0004519	mondo.json	myometrium smooth muscle cell	http://purl.obolibrary.org/obo/CL_0002366		
MONDO:0015874	biolink:Disease	benign ductal tumor of breast		UMLS:CN200479|Orphanet:180284	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015874	Orphanet:180284|UMLS:CN200479	ordo_disease
MONDO:0013212	biolink:Disease	Charcot-Marie-Tooth disease axonal type 2N	Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.	UMLS:C4304671|MESH:C567653|UMLS:C2750090|Orphanet:228174|DOID:0110177|GARD:0012429|SCTID:719515001|OMIM:613287	mondo.json	AARS Charcot-Marie-Tooth disease type 2|autosomal dominant Charcot-Marie-Tooth disease type 2N|CMT2N|autosomal dominant axonal Charcot-Marie-Tooth disease type 2N|Charcot-Marie-Tooth disease, axonal, type 2N|Charcot-Marie-Tooth disease type 2N|Charcot-Marie-Tooth neuropathy axonal type 2N|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2N|Charcot-Marie-Tooth neuropathy, axonal, type 2N|Charcot-Marie-Tooth disease type 2 caused by mutation in AARS	http://purl.obolibrary.org/obo/MONDO_0013212	http://identifiers.org/mesh/C567653|UMLS:C4304671|DOID:0110177|http://identifiers.org/snomedct/719515001|UMLS:C2750090|https://omim.org/entry/613287|Orphanet:228174	ordo_disease
MONDO:0015873	biolink:Disease	Paget disease of the nipple	Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses.	UMLS:C1704323|ONCOTREE:PD|SCTID:403946000|GARD:0007303|NCIT:C3301|Orphanet:180275|MedDRA:10033367	mondo.json	Paget's disease, mammary|PD|nipple Paget's disease|Paget disease of the nipple|Paget's disease of the nipple|Paget disease of the breast|mammary Paget disease|Paget's disease of nipple	http://purl.obolibrary.org/obo/MONDO_0015873	Orphanet:180275|http://identifiers.org/snomedct/403946000|UMLS:C1704323|NCIT:C3301	ordo_disease
CL:0002365	biolink:Cell	medullary thymic epithelial cell	An epithelial cell of the medullary thymus. This cell type expresses a diverse range of tissue-specific antigens. This promiscuous gene expression is a cell-autonomous property of medullary epithelial cells and is maintained during the entire period of thymic T cell output.	BTO:0004563	mondo.json	mTEC	http://purl.obolibrary.org/obo/CL_0002365		
MONDO:0013217	biolink:Disease	Diamond-Blackfan anemia 10	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 gene.	MESH:C567649|UMLS:C2750080|OMIM:613309	mondo.json	Diamond-Blackfan anemia caused by mutation in RPS26|Diamond-Blackfan anemia 10|DBA10|Diamond-Blackfan Anemia type 10|RPS26 Diamond-Blackfan anemia	http://purl.obolibrary.org/obo/MONDO_0013217	http://identifiers.org/mesh/C567649|UMLS:C2750080|https://omim.org/entry/613309	
CL:0002368	biolink:Cell	respiratory epithelial cell	An endo-epithelial cell of the respiratory tract.	BTO:0004533	mondo.json	airway epithelial cell	http://purl.obolibrary.org/obo/CL_0002368		
MONDO:0015879	biolink:Disease	obsolete non-syndromic diaphragmatic or thoracic malformation		Orphanet:180776	mondo.json	isolated diaphragmatic or thoracic malformation|nonsyndromic diaphragmatic or thoracic malformation	http://purl.obolibrary.org/obo/MONDO_0015879	Orphanet:180776	disease_grouping|ordo_group_of_disorders
MONDO:0013218	biolink:Disease	exudative vitreoretinopathy 5	Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene.	MESH:C567648|DOID:0111408|UMLS:C2750079|OMIM:613310	mondo.json	exudative vitreoretinopathy 5|exudative vitreoretinopathy type 5|TSPAN12 exudative vitreoretinopathy|exudative vitreoretinopathy caused by mutation in TSPAN12|EVR5	http://purl.obolibrary.org/obo/MONDO_0013218	http://identifiers.org/mesh/C567648|DOID:0111408|UMLS:C2750079|https://omim.org/entry/613310	
HGNC:14897	biolink:NamedThing	ITPKC			mondo.json		http://identifiers.org/hgnc/14897		
MONDO:0013215	biolink:Disease	autosomal recessive nonsyndromic hearing loss 79	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TPRN gene.	UMLS:C2750082|DOID:0110526|MESH:C567651|OMIM:613307	mondo.json	autosomal recessive nonsyndromic deafness 79|autosomal recessive nonsyndromic deafness type 79|autosomal recessive nonsyndromic deafness caused by mutation in TPRN|deafness, autosomal recessive type 79|DFNB79|autosomal recessive deafness 79|deafness, autosomal recessive 79|TPRN autosomal recessive nonsyndromic deafness	http://purl.obolibrary.org/obo/MONDO_0013215	http://identifiers.org/mesh/C567651|DOID:0110526|UMLS:C2750082|https://omim.org/entry/613307	clingen
MONDO:0015878	biolink:Disease	obsolete rare disease with autism		UMLS:CN200486|Orphanet:180772	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015878	UMLS:CN200486|Orphanet:180772	disease_grouping|ordo_group_of_disorders
MONDO:0015877	biolink:Disease	obsolete malformative syndrome with dentinogenesis imperfecta		UMLS:CN200485|Orphanet:180766	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015877	UMLS:CN200485|Orphanet:180766	ordo_group_of_disorders
MONDO:0013216	biolink:Disease	Diamond-Blackfan anemia 9	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene.	UMLS:C2750081|MESH:C567650|OMIM:613308	mondo.json	DBA9|RPS10 Diamond-Blackfan anemia|Diamond-Blackfan Anemia type 9|Diamond-Blackfan anemia caused by mutation in RPS10|Diamond-Blackfan anemia 9	http://purl.obolibrary.org/obo/MONDO_0013216	http://identifiers.org/mesh/C567650|UMLS:C2750081|https://omim.org/entry/613308	
CHEBI:13643	biolink:ChemicalSubstance	glycol	A diol in which the two hydroxy groups are on different carbon atoms, usually but not necessarily adjacent.		mondo.json	Glykol|glycols	http://purl.obolibrary.org/obo/CHEBI_13643		
GO:0035082	biolink:NamedThing	axoneme assembly	The assembly and organization of an axoneme, the bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements.		mondo.json	ciliary axoneme assembly|cilium axoneme biogenesis|flagellar axoneme assembly|cilium axoneme assembly|axoneme biogenesis|flagellum axoneme assembly	http://purl.obolibrary.org/obo/GO_0035082		
MONDO:0001219	biolink:Disease	serous conjunctivitis except viral		DOID:11197|SCTID:9824006|ICD9:372.01|UMLS:C0155142	mondo.json	serous conjunctivitis, except viral	http://purl.obolibrary.org/obo/MONDO_0001219	http://identifiers.org/snomedct/9824006|UMLS:C0155142|DOID:11197	
MONDO:0001218	biolink:Disease	acute laryngopharyngitis	An upper respiratory tract disease which involves inflammation of both larynx and pharynx.	UMLS:C0155817|DOID:11195|ICD10CM:J06.0|SCTID:55355000|ICD9:465.0	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001218	http://identifiers.org/snomedct/55355000|DOID:11195|http://purl.bioontology.org/ontology/ICD10CM/J06.0|UMLS:C0155817	
MONDO:0015872	biolink:Disease	giant adenofibroma of the breast	Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement.	Orphanet:180267|UMLS:CN200476	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015872	Orphanet:180267|UMLS:CN200476	ordo_disease
FOODON:03420236	biolink:NamedThing	protein extract, concentrate or isolate	Extract, concentrate or isolate high in protein; may contain amino acids, polypeptides and enzymes.		mondo.json		http://purl.obolibrary.org/obo/FOODON_03420236		
MONDO:0015871	biolink:Disease	benign breast phyllodes tumor	A usually unilateral, benign and well circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a cellular, monomorphic spindle cell mesenchymal component. Mitoses are rare. Necrotic changes may be present in large tumors.	ONCOTREE:BPT|NCIT:C5196|SCTID:720344007|MedDRA:10011813|UMLS:C1332533|DOID:1631|Orphanet:180261	mondo.json	phyllodes tumor, benign (morphologic abnormality)|BPT|benign phyllodes tumor of breast|cystosarcoma phylloide|breast phyllodes tumor, benign|benign phyllodes tumor of the breast|cystosarcoma phyllodes NOS (morphologic abnormality)|phylloide tumor of the breast|breast benign phyllodes neoplasm|benign breast phyllodes tumor|phyllodes neoplasm|cystosarcoma phyllode|phyllode tumor of the breast|cystosarcoma phylloide of the breast|cystosarcoma phyllodes|benign phyllodes neoplasm of breast|benign phyllodes neoplasm of the breast|cystosarcoma phyllode of the breast|benign phyllodes neoplasm|benign cystosarcoma phyllodes	http://purl.obolibrary.org/obo/MONDO_0015871	http://identifiers.org/snomedct/720344007|NCIT:C5196|DOID:1631|Orphanet:180261|UMLS:C1332533	ordo_disease
MONDO:0013210	biolink:Disease	autosomal recessive nonsyndromic hearing loss 25	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene.	UMLS:C1414017|DOID:0110483|OMIM:613285	mondo.json	autosomal recessive nonsyndromic deafness 25|deafness, autosomal recessive 25|autosomal recessive nonsyndromic deafness caused by mutation in GRXCR1|DFNB25|autosomal recessive nonsyndromic deafness type 25|deafness, autosomal recessive type 25|autosomal recessive deafness 25|GRXCR1 autosomal recessive nonsyndromic deafness	http://purl.obolibrary.org/obo/MONDO_0013210	DOID:0110483|UMLS:C1414017|https://omim.org/entry/613285	clingen
FOODON:03420237	biolink:NamedThing	floret or flower	The pigmented blossom of a plant that contains the reproductive  organs; a floret is a single flower of a multiple flowered inflorescence. Also includes flower buds.		mondo.json		http://purl.obolibrary.org/obo/FOODON_03420237		
MONDO:0015870	biolink:Disease	obsolete rare malignant breast tumor	OBSOLETE. Any of the forms of breast cancer that have a rare incidence.	Orphanet:180257|UMLS:C0678222|UMLS:CN200474	mondo.json	rare breast cancer	http://purl.obolibrary.org/obo/MONDO_0015870	UMLS:CN200474|Orphanet:180257	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
UBERON:8000006	biolink:AnatomicalEntity	left side of back			mondo.json		http://purl.obolibrary.org/obo/UBERON_8000006		
UBERON:8000007	biolink:AnatomicalEntity	right side of back			mondo.json		http://purl.obolibrary.org/obo/UBERON_8000007		
MONDO:0001235	biolink:Disease	appendix cancer	A malignant neoplasm involving the vermiform appendix	NCIT:C9333|ICD9:153.5|DOID:11239|UMLS:C0496779|SCTID:363411007	mondo.json	cancer of the appendix|malignant neoplasm of vermiform appendix|malignant tumor of appendix|vermiform appendix cancer|malignant neoplasm of appendix vermiformis|malignant appendix neoplasm|malignant tumor of the appendix|malignant neoplasm of appendix|malignant vermiform appendix neoplasm|cancer of vermiform appendix|malignant appendix tumor|malignant neoplasm of the appendix	http://purl.obolibrary.org/obo/MONDO_0001235	http://identifiers.org/snomedct/363411007|NCIT:C9333|DOID:11239|UMLS:C0496779	
MONDO:0003898	biolink:Disease	pediatric myxoid chondrosarcoma	A myxoid chondrosarcoma occurring in children.	NCIT:C27377|UMLS:C1332984|DOID:6494	mondo.json	pediatric myxoid chondrosarcoma|childhood myxoid chondrosarcoma|myxoid chondrosarcoma of childhood	http://purl.obolibrary.org/obo/MONDO_0003898	UMLS:C1332984|NCIT:C27377|DOID:6494	
MONDO:0001234	biolink:Disease	adhesive otitis media	An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear.	ICD9:385.10|ICD10CM:H74.1|DOID:11235|ICD9:385.1|UMLS:C0155478|SCTID:7699004	mondo.json	adhesive middle ear disease|chronic adhesive otitis media|adhesive otitis media|fibrotic adhesive otitis media	http://purl.obolibrary.org/obo/MONDO_0001234	UMLS:C0155478|DOID:11235|http://identifiers.org/snomedct/7699004|http://purl.bioontology.org/ontology/ICD10CM/H74.1	
MONDO:0003899	biolink:Disease	adult myxoid chondrosarcoma	A myxoid chondrosarcoma occurring in adults.	UMLS:C1332209|NCIT:C27378|DOID:6495	mondo.json	adult myxoid chondrosarcoma|myxoid chondrosarcoma of adults	http://purl.obolibrary.org/obo/MONDO_0003899	NCIT:C27378|DOID:6495|UMLS:C1332209	
MONDO:0001233	biolink:Disease	orbital tenonitis		SCTID:8976003|DOID:11233|ICD9:376.04|UMLS:C0155259	mondo.json	tenonitis	http://purl.obolibrary.org/obo/MONDO_0001233	UMLS:C0155259|DOID:11233|http://identifiers.org/snomedct/8976003	
HGNC:26887	biolink:NamedThing	TAPT1			mondo.json		http://identifiers.org/hgnc/26887		
MONDO:0001232	biolink:Disease	orbital osteomyelitis		SCTID:65875003|DOID:11232|ICD9:376.03|UMLS:C0155258	mondo.json	orbital osteomyelitis	http://purl.obolibrary.org/obo/MONDO_0001232	UMLS:C0155258|DOID:11232|http://identifiers.org/snomedct/65875003	
GO:0106064	biolink:NamedThing	regulation of cobalamin metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom.		mondo.json		http://purl.obolibrary.org/obo/GO_0106064		
MONDO:0003894	biolink:Disease	mediastinal melanocytic neurilemmoma	A melanotic schwannoma that affects the mediastinum.	DOID:6484|UMLS:C1334668|NCIT:C6635	mondo.json	melanocytic schwannoma of mediastinum|melanocytic schwannoma of the mediastinum|mediastinal melanocytic schwannoma|melanocytic neurilemmoma of the mediastinum|melanocytic neurilemmoma of mediastinum|mediastinal melanotic schwannoma	http://purl.obolibrary.org/obo/MONDO_0003894	NCIT:C6635|UMLS:C1334668|DOID:6484	
MONDO:0001239	biolink:Disease	anemia of prematurity	A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition.	UMLS:C0158996|NCIT:C97167|ICD10CM:P61.2|ICD9:776.6|DOID:11243|SCTID:47100003	mondo.json	AOP	http://purl.obolibrary.org/obo/MONDO_0001239	http://identifiers.org/snomedct/47100003|UMLS:C0158996|DOID:11243|http://purl.bioontology.org/ontology/ICD10CM/P61.2|NCIT:C97167	
MONDO:0003895	biolink:Disease	periosteal osteogenic sarcoma	An intermediate grade malignant bone-forming mesenchymal neoplasm with chondroblastic differentiation. It arises from the surface of the bone and affects the diaphysis or diaphyseal- metaphyseal portion of the long bones. A painless mass or swelling is the most common clinical sign. It is associated with a better prognosis than conventional osteosarcoma.	NCIT:C8970|DOID:6489|ICDO:9193/3|UMLS:C1377843|ONCOTREE:PEOS	mondo.json	periosteal osteosarcoma|PEOS|periosteal osteogenic sarcoma|juxtacortical chondroblastic osteosarcoma|periosteal osteosarcoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003895	NCIT:C8970|UMLS:C1377843|DOID:6489	
MONDO:0001238	biolink:Disease	polycythemia neonatorum	A condition in which the red blood cell level is greater than established reference ranges in a newborn.	ICD9:776.4|SCTID:32984002|ICD10CM:P61.1|NCIT:C27069|UMLS:C0272153|DOID:11242	mondo.json	plethora of newborn|neonatal polycythemia|polycythemia neonatorum|polycythemia of the newborn	http://purl.obolibrary.org/obo/MONDO_0001238	NCIT:C27069|http://purl.bioontology.org/ontology/ICD10CM/P61.1|DOID:11242|http://identifiers.org/snomedct/32984002|UMLS:C0272153	
MONDO:0003896	biolink:Disease	breast capillary hemangioma	A capillary hemangioma arising from the breast.	NCIT:C5210|UMLS:C1332619|DOID:6491	mondo.json	breast capillary angioma|capillary angioma of breast|breast capillary hemangioma|capillary angioma of the breast|capillary hemangioma of breast|capillary hemangioma of the breast	http://purl.obolibrary.org/obo/MONDO_0003896	UMLS:C1332619|NCIT:C5210|DOID:6491	
MONDO:0001237	biolink:Disease	appendix lymphoma	A lymphoma arising from the appendix. The majority of lymphomas affecting the appendix represent disease extension from the intestinal wall; primary lymphomas of the appendix are rare.	UMLS:C1332328|NCIT:C5513|DOID:11241	mondo.json	lymphoma of the appendix|primary appendix lymphoma|appendiceal lymphoma|lymphoma of vermiform appendix|vermiform appendix lymphoma|appendix lymphoma|lymphoma of appendix	http://purl.obolibrary.org/obo/MONDO_0001237	UMLS:C1332328|DOID:11241|NCIT:C5513	
MONDO:0003897	biolink:Disease	breast epithelioid hemangioma	A hemangioma characterized by the presence of epithelioid endothelial cells, arising from the breast.	UMLS:C1332627|NCIT:C5211|DOID:6492	mondo.json	histiocytoid hemangioma of the breast|epithelioid breast hemangioma|epithelioid hemangioma of breast|epithelioid hemangioma of the breast|breast epithelioid hemangioma|histiocytoid breast hemangioma|breast histiocytoid hemangioma|histiocytoid hemangioma of breast	http://purl.obolibrary.org/obo/MONDO_0003897	UMLS:C1332627|NCIT:C5211|DOID:6492	
HGNC:24229	biolink:NamedThing	CIDEC			mondo.json		http://identifiers.org/hgnc/24229		
UBERON:0012490	biolink:AnatomicalEntity	muscle layer of anal canal			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012490		
MONDO:0001236	biolink:Disease	appendiceal neoplasm	A benign or malignant neoplasm involving the appendix.	NCIT:C4434|UMLS:C0003614|EFO:0003880|SCTID:126846004|MESH:D001063|DOID:11240	mondo.json	neoplasm of appendix|vermiform appendix neoplasm|appendix tumor|neoplasm of the appendix|tumor of vermiform appendix|appendix neoplasm|vermiform appendix neoplasm (disease)|tumor of appendix|neoplasm of vermiform appendix|tumor of the appendix|vermiform appendix tumor	http://purl.obolibrary.org/obo/MONDO_0001236	DOID:11240|NCIT:C4434|UMLS:C0003614|http://identifiers.org/mesh/D001063|http://identifiers.org/snomedct/126846004	
MONDO:0003890	biolink:Disease	infiltrating bladder urothelial carcinoma	An invasive transitional cell carcinoma that arises from the urinary bladder urothelium.	NCIT:C27885|DOID:6477|UMLS:C1334281	mondo.json	invasive transitional cell carcinoma of the urinary bladder|invasive bladder transitional cell carcinoma|invasive bladder urothelial carcinoma|infiltrating bladder urothelial carcinoma|infiltrating transitional cell carcinoma of the urinary bladder	http://purl.obolibrary.org/obo/MONDO_0003890	NCIT:C27885|UMLS:C1334281|DOID:6477	
MONDO:0003891	biolink:Disease	bladder signet ring cell adenocarcinoma	A signet ring cell carcinoma that involves the urinary bladder.	UMLS:C1332563|DOID:6481|NCIT:C6163	mondo.json	signet Ring cell adenocarcinoma of the bladder|signet Ring cell adenocarcinoma of bladder|urinary bladder signet ring cell carcinoma|urinary bladder signet Ring adenocarcinoma|bladder signet ring cell adenocarcinoma|signet Ring cell adenocarcinoma of the urinary bladder|signet ring cell adenocarcinoma of bladder|signet Ring cell adenocarcinoma of urinary bladder	http://purl.obolibrary.org/obo/MONDO_0003891	NCIT:C6163|DOID:6481|UMLS:C1332563	
MONDO:0003892	biolink:Disease	acinar lung adenocarcinoma	A morphologic variant of lung adenocarcinoma characterized by the presence of acinar structures composed of columnar or cuboidal cells. (NCI05)	DOID:6482|NCIT:C5649|UMLS:C1332137	mondo.json	lung acinar adenocarcinoma|acinar adenocarcinoma of the lung|acinar lung adenocarcinoma|acinar adenocarcinoma of lung	http://purl.obolibrary.org/obo/MONDO_0003892	NCIT:C5649|DOID:6482|UMLS:C1332137	
MONDO:0015859	biolink:Disease	obsolete rare non-malformative uterovaginal or vulvovaginal disease		UMLS:CN200461|Orphanet:180205	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015859	Orphanet:180205|UMLS:CN200461	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0003893	biolink:Disease	rete testis adenoma	A benign epithelial neoplasm arising from the rete testis.	DOID:6483|NCIT:C39956|UMLS:C1514910	mondo.json	adenoma, rete testis, benign|rete testis adenoma	http://purl.obolibrary.org/obo/MONDO_0003893	NCIT:C39956|DOID:6483|UMLS:C1514910	
MONDO:0001231	biolink:Disease	orbital periostitis		UMLS:C0155257|SCTID:65974003|ICD9:376.02|DOID:11231	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001231	http://identifiers.org/snomedct/65974003|UMLS:C0155257|DOID:11231	
MONDO:0001230	biolink:Disease	acute orbital inflammation		ICD9:376.0|ICD9:376.00|DOID:11230|SCTID:20551005	mondo.json	acute inflammation of orbit	http://purl.obolibrary.org/obo/MONDO_0001230	DOID:11230|http://identifiers.org/snomedct/20551005	
UBERON:0012499	biolink:AnatomicalEntity	serosa of uterine tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012499		
UBERON:0012498	biolink:AnatomicalEntity	serosa of appendix			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012498		
MONDO:0015865	biolink:Disease	obsolete benign tumor of fallopian tubes			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015865		
MONDO:0013202	biolink:Disease	Waardenburg syndrome type 4C	A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10.	MESH:C567679|OMIM:613266|DOID:0110955|UMLS:C2750452	mondo.json	Waardenburg syndrome, type 4C|Waardenburg syndrome with Hirschsprung disease, type 4C|Waardenburg syndrome with Hirschsprung disease type 4C|WS4C|Waardenburg syndrome type 4C|Waardenburg syndrome type IVC	http://purl.obolibrary.org/obo/MONDO_0013202	http://identifiers.org/mesh/C567679|UMLS:C2750452|DOID:0110955|https://omim.org/entry/613266	
MONDO:0015864	biolink:Disease	mixed germ cell tumor	A malignant germ cell tumor characterized by the presence of at least two different germ cell components. The different germ cell components include choriocarcinoma, embryonal carcinoma, yolk sac tumor, teratoma, and seminoma. It occurs in the ovary, testis, and extragonadal sites including central nervous system and mediastinum.	NCIT:C4290|ICDO:9085/3|UMLS:C0334524|Orphanet:180234|DOID:3306	mondo.json	combined germ cell tumor|combined germ cell neoplasm|mixed germ cell cancer|mixed germ cell neoplasm|mixed germ cell tumor|mixed germ cell tumour	http://purl.obolibrary.org/obo/MONDO_0015864	Orphanet:180234|DOID:3306|NCIT:C4290|UMLS:C0334524	ordo_disease
MONDO:0013203	biolink:Disease	corneal dystrophy, Fuchs endothelial, 3	Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene.	MESH:C567678|OMIM:613267|UMLS:C2750451	mondo.json	corneal dystrophy, Fuchs endothelial, late-onset|Fcd2 locus|corneal dystrophy, Fuchs endothelial, 3|corneal dystrophy, Fuchs endothelial, type 3|TCF4 Fuchs' endothelial dystrophy|Fuchs' endothelial dystrophy caused by mutation in TCF4|FECD3	http://purl.obolibrary.org/obo/MONDO_0013203	http://identifiers.org/mesh/C567678|https://omim.org/entry/613267|UMLS:C2750451	
MONDO:0013200	biolink:Disease	hypertrophic cardiomyopathy 15	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.	MESH:C567681|OMIM:613255|DOID:0110321|UMLS:C2750459	mondo.json	CMH15|cardiomyopathy, familial hypertrophic, type 15|VCL hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 15|cardiomyopathy familial hypertrophic 15|hypertrophic cardiomyopathy type 15|hypertrophic cardiomyopathy caused by mutation in VCL|cardiomyopathy, hypertrophic, 15	http://purl.obolibrary.org/obo/MONDO_0013200	http://identifiers.org/mesh/C567681|DOID:0110321|UMLS:C2750459|https://omim.org/entry/613255	
MONDO:0015863	biolink:Disease	polyembryoma	Polyembryoma is a type oftumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctivelook because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation. Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy. The cause of polyembryoma is not yet known.	Orphanet:180229|UMLS:C0334518|GARD:0009621|NCIT:C66776	mondo.json	gonadal polyembryoma	http://purl.obolibrary.org/obo/MONDO_0015863	Orphanet:180229|UMLS:C0334518|NCIT:C66776	gard_rare|ordo_disease
MONDO:0013201	biolink:Disease	Waardenburg syndrome type 4B	A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3.	OMIM:613265|DOID:0110954|MESH:C567680|UMLS:C2750457	mondo.json	Waardenburg syndrome, type 4B|Waardenburg syndrome with Hirschsprung disease type 4B|EDN3 Waardenburg syndrome|WS4B|Waardenburg syndrome type 4B|Waardenburg syndrome type IVB|Waardenburg syndrome, type 4B, with Hirschsprung disease|Waardenburg syndrome caused by mutation in EDN3	http://purl.obolibrary.org/obo/MONDO_0013201	http://identifiers.org/mesh/C567680|DOID:0110954|https://omim.org/entry/613265|UMLS:C2750457	
MONDO:0015862	biolink:Disease	obsolete embryonal carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015862		
MONDO:0015869	biolink:Disease	obsolete rare benign breast tumor	OBSOLETE. Any of the forms of breast benign neoplasm that have a rare incidence.	Orphanet:180253	mondo.json	rare breast benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0015869	Orphanet:180253	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0013206	biolink:Disease	corneal dystrophy, Fuchs endothelial, 6	Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.	OMIM:613270|MESH:C567675|UMLS:C2750448	mondo.json	FECD6|ZEB1 Fuchs' endothelial dystrophy|corneal dystrophy, Fuchs endothelial, late-onset|corneal dystrophy, Fuchs endothelial, 6|corneal dystrophy, Fuchs endothelial, type 6|Fuchs' endothelial dystrophy caused by mutation in ZEB1	http://purl.obolibrary.org/obo/MONDO_0013206	http://identifiers.org/mesh/C567675|https://omim.org/entry/613270|UMLS:C2750448	
MONDO:0013207	biolink:Disease	corneal dystrophy, fuchs endothelial, 7		OMIM:613271|MESH:C567674|UMLS:C2750447	mondo.json	corneal dystrophy, Fuchs endothelial, 7|Fcd4 locus|corneal dystrophy, Fuchs endothelial, late-onset|FECD7	http://purl.obolibrary.org/obo/MONDO_0013207	http://identifiers.org/mesh/C567674|UMLS:C2750447|https://omim.org/entry/613271	
MONDO:0015868	biolink:Disease	obsolete rare breast tumor	OBSOLETE. Any of the forms of breast neoplasm that have a rare incidence.	Orphanet:180250	mondo.json	rare breast neoplasm|rare breast cancer	http://purl.obolibrary.org/obo/MONDO_0015868	Orphanet:180250	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0015867	biolink:Disease	vaginal carcinoma	A carcinoma arising from the vaginal epithelium. The majority of vaginal carcinomas are squamous cell carcinomas.	NCIT:C3917|DOID:0050918|Orphanet:180247|UMLS:C0262659	mondo.json	carcinoma of vagina|vagina carcinoma|carcinoma of the vagina|vagina cancer|vaginal cancer, NOS|cancer of vagina|cancer of the vagina|vaginal carcinoma|vaginal malignant epithelial tumor|vaginal cancer	http://purl.obolibrary.org/obo/MONDO_0015867	NCIT:C3917|Orphanet:180247|DOID:0050918|UMLS:C0262659	ordo_disease
MONDO:0013204	biolink:Disease	corneal dystrophy, Fuchs endothelial, 4	Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene.	MESH:C567677|OMIM:613268|UMLS:C2750450	mondo.json	corneal dystrophy, Fuchs endothelial, late-onset|SLC4A11 Fuchs' endothelial dystrophy|corneal dystrophy, Fuchs endothelial, 4|corneal dystrophy, Fuchs endothelial, type 4|Fuchs' endothelial dystrophy caused by mutation in SLC4A11|FECD4	http://purl.obolibrary.org/obo/MONDO_0013204	http://identifiers.org/mesh/C567677|UMLS:C2750450|https://omim.org/entry/613268	
MONDO:0015866	biolink:Disease	obsolete malignant tumor of fallopian tubes			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015866		
MONDO:0013205	biolink:Disease	corneal dystrophy, fuchs endothelial, 5		UMLS:C2750449|OMIM:613269|MESH:C567676	mondo.json	corneal dystrophy, Fuchs endothelial, late-onset|Fcd3 locus|FECD5|corneal dystrophy, Fuchs endothelial, 5	http://purl.obolibrary.org/obo/MONDO_0013205	http://identifiers.org/mesh/C567676|UMLS:C2750449|https://omim.org/entry/613269	
NCBITaxon:2072716	biolink:OrganismalEntity	Spiruromorpha		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2072716		
MONDO:0001229	biolink:Disease	small intestine diverticulitis	A diverticulitis that involves the small intestine.	UMLS:C0156164|SCTID:56165008|ICD9:562.02|ICD9:562.01|DOID:11223	mondo.json	diverticulosis of small intestine with hemorrhage|small intestine diverticulitis|diverticulitis of small intestine	http://purl.obolibrary.org/obo/MONDO_0001229	DOID:11223|http://identifiers.org/snomedct/56165008	
MONDO:0015861	biolink:Disease	obsolete rare uterine adnexal tumor		UMLS:CN200464|Orphanet:180220	mondo.json	syn: Rare tumor of ovaries and fallopian tubes	http://purl.obolibrary.org/obo/MONDO_0015861	UMLS:CN200464|Orphanet:180220	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
CL:0002371	biolink:Cell	somatic cell	A cell of an organism that does not pass on its genetic material to the organism's offspring (i.e. a non-germ line cell).	WBbt:0008378|FMA:72300|BTO:0001268	mondo.json		http://purl.obolibrary.org/obo/CL_0002371		_upper_level
MONDO:0015860	biolink:Disease	anomaly of puberty or/and menstrual cycle		Orphanet:180208	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015860	Orphanet:180208	disease_grouping|ordo_group_of_disorders
CL:0002370	biolink:Cell	respiratory goblet cell	A simple columnar epithelial cell that secretes mucin. Rough endoplasmic reticulum, mitochondria, the nucleus, and other organelles are concentrated in the basal portion. The apical plasma membrane projects microvilli to increase surface area for secretion.		mondo.json	respiratory mucosa goblet cells	http://purl.obolibrary.org/obo/CL_0002370		
CL:0002372	biolink:Cell	myotube	A transversely striated, synctial muscle cell, formed by the fusion of myoblasts.		mondo.json	myotubule|single cell sarcomere	http://purl.obolibrary.org/obo/CL_0002372		
FOODON:03420228	biolink:NamedThing	extract, concentrate or isolate of plant or animal	A physical-chemical component separated from the food source or its parts by extraction, centrifugation, filtration, heat processing, expressing or a similar process. The separated component may be converted through further processing. If this is done, the final substance is indexed. A water-extracted component may remain in aqueous dispersion. The extract, concentrate or isolate is indexed in preference to the anatomic part from which it is derived. For example, peanut oil is indexed under *PEANUT* combined wih *FAT OR OIL* rather than with *SEED OR KERNEL*. On the other hand, fruit and vegetable juices can be indexed under *FRUIT JUICE OR NECTAR* or *VEGETABLE JUICE* (A. PRODUCT TYPE); therefore the anatomic part of the plant should be indexed.	http://www.langual.org/langual_thesaurus.asp?termid=C0228	mondo.json		http://purl.obolibrary.org/obo/FOODON_03420228		
NCBITaxon:480118	biolink:OrganismalEntity	Eremoneura		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_480118		
NCBITaxon:480117	biolink:OrganismalEntity	Cyclorrhapha		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_480117		
MONDO:0001289	biolink:Disease	obsolete endometriosis of ovary			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001289		
MONDO:0001288	biolink:Disease	endometriosis of rectovaginal septum and vagina	Endometriosis that affects the vagina. It is characterized by the presence of endometrial stroma with or without endometrial-type glands in the vagina.	NCIT:C128064|DOID:11431|UMLS:C0156346|ICD9:617.4|SCTID:198253003|ICD10CM:N80.4	mondo.json	vaginal endometriosis	http://purl.obolibrary.org/obo/MONDO_0001288	DOID:11431|http://purl.bioontology.org/ontology/ICD10CM/N80.4|NCIT:C128064|UMLS:C0156346|http://identifiers.org/snomedct/198253003	
MONDO:0001287	biolink:Disease	endometriosis in cutaneous scar		DOID:11430|SCTID:53913001|ICD9:617.6|UMLS:C0156348|ICD10CM:N80.6	mondo.json	scar endometriosis|endometriosis in scar of skin	http://purl.obolibrary.org/obo/MONDO_0001287	DOID:11430|http://purl.bioontology.org/ontology/ICD10CM/N80.6|http://identifiers.org/snomedct/53913001|UMLS:C0156348	
CHR:9606-chr5q31.3	biolink:NamedThing	5q31.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr5q31.3		
MONDO:0001282	biolink:Disease	fallopian tube endometriosis	Endometriosis that affects the fallopian tube. Symptoms include infertility, pelvic pain, painful menstruation, and painful intercourse.	NCIT:C26763|UMLS:C0014177|ICD9:617.2|DOID:11424|SCTID:22611009	mondo.json	endometriosis (disease) of fallopian tube|fallopian tube endometriosis|fallopian tube endometriosis (disease)|endometriosis of fallopian tube	http://purl.obolibrary.org/obo/MONDO_0001282	UMLS:C0014177|http://identifiers.org/snomedct/22611009|DOID:11424|NCIT:C26763	
MONDO:0001281	biolink:Disease	alternating exotropia	A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction.	ICD10CM:H50.15|ICD9:378.15|UMLS:C0152207|SCTID:37214009|DOID:1142	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001281	UMLS:C0152207|http://purl.bioontology.org/ontology/ICD10CM/H50.15|http://identifiers.org/snomedct/37214009|DOID:1142	
MONDO:0001280	biolink:Disease	choroiditis	An inflammatory process that affects the choroid.	MedDRA:10036370|NCIT:C35111|Orphanet:280892|GARD:0006062|DOID:11406|SCTID:16553002|UMLS:C0042167|MESH:D002833|UMLS:C0008526|HP:0012123	mondo.json	posterior uveitis (disease)|posterior uveitis|choroiditis|Choroiditides	http://purl.obolibrary.org/obo/MONDO_0001280	NCIT:C35111|http://identifiers.org/snomedct/16553002|UMLS:C0042167|http://identifiers.org/mesh/D002833|UMLS:C0008526|DOID:11406|Orphanet:280892	disease_grouping|ordo_group_of_disorders
HP:0032158	biolink:PhenotypicFeature	Unusual infection by anatomical site	An unusual infection classified by the affected body part.		mondo.json		http://purl.obolibrary.org/obo/HP_0032158		
MONDO:0001286	biolink:Disease	exotropia	A form of strabismus in which the eyes are deviated laterally.	SCTID:399252000|UMLS:C0015310|ICD9:378.10|MESH:D005099|DOID:1143|ICD10CM:H50.1|ICD9:378.1|NCIT:C34601	mondo.json	divergent concomitant strabismus|divergent strabismus	http://purl.obolibrary.org/obo/MONDO_0001286	http://identifiers.org/snomedct/399252000|UMLS:C0015310|NCIT:C34601|http://purl.bioontology.org/ontology/ICD10CM/H50.1|http://identifiers.org/mesh/D005099|DOID:1143	
MONDO:0001285	biolink:Disease	endometriosis of pelvic peritoneum		SCTID:198251001|ICD9:617.3|ICD10CM:N80.3|DOID:11429|UMLS:C0156345	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001285	http://purl.bioontology.org/ontology/ICD10CM/N80.3|UMLS:C0156345|http://identifiers.org/snomedct/198251001|DOID:11429	
HP:0032154	biolink:PhenotypicFeature	Aphthous ulcer	Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.		mondo.json	Canker sore	http://purl.obolibrary.org/obo/HP_0032154		
MONDO:0001284	biolink:Disease	endometriosis of intestine	Endometriosis that affects the intesines.	ICD10CM:N80.5|DOID:11428|SCTID:5562006|UMLS:C0156347|ICD9:617.5	mondo.json	intestine endometriosis (disease)|endometriosis (disease) of intestine	http://purl.obolibrary.org/obo/MONDO_0001284	http://identifiers.org/snomedct/5562006|UMLS:C0156347|http://purl.bioontology.org/ontology/ICD10CM/N80.5|DOID:11428	
MONDO:0001283	biolink:Disease	endosalpingiosis	A benign pathologic process characterized by the transformation of the mesothelium into fallopian tube epithelium. It occurs in the peritoneum and may affect the serosa surface of the uterus and the adnexa. It may be asymptomatic or present as pelvic pain.	DOID:11427|SCTID:55850004|UMLS:C0269106|NCIT:C40121	mondo.json	endosalpingiosis	http://purl.obolibrary.org/obo/MONDO_0001283	NCIT:C40121|http://identifiers.org/snomedct/55850004|DOID:11427|UMLS:C0269106	
MONDO:0013279	biolink:Disease	long QT syndrome 13	Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene.	Orphanet:101016|UMLS:C3150733|OMIM:613485|DOID:0110654	mondo.json	KCNJ5 long QT syndrome|long QT syndrome type 13|long QT syndrome caused by mutation in KCNJ5|long QT syndrome 13|LQT13	http://purl.obolibrary.org/obo/MONDO_0013279	https://omim.org/entry/613485|UMLS:C3150733|DOID:0110654	
CL:0002341	biolink:Cell	basal cell of prostate epithelium	An undifferentiated cell of the prostate epithelium that lacks secretory activity.		mondo.json		http://purl.obolibrary.org/obo/CL_0002341		
MONDO:0013277	biolink:Disease	developmental and epileptic encephalopathy, 5	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene.	DOID:0080438|UMLS:C3150731|OMIM:613477	mondo.json	early infantile epileptic encephalopathy caused by mutation in SPTAN1|developmental and epileptic encephalopathy 5|epileptic encephalopathy, early infantile, type 5|DEE5|SPTAN1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 5|EIEE5	http://purl.obolibrary.org/obo/MONDO_0013277	https://omim.org/entry/613477|DOID:0080438|UMLS:C3150731	
CL:1000376	biolink:Cell	Purkinje myocyte of interventricular septum	A Purkinje myocyte that is part of the interventricular septum.	FMA:263182	mondo.json		http://purl.obolibrary.org/obo/CL_1000376		
CL:0002344	biolink:Cell	CD56-negative, CD161-positive immature natural killer cell, human	A natural killer cell that is developmentally immature, has the phenotype CD34-negative, CD56-negative, CD117-positive, CD122-positive,and CD161-positive.		mondo.json	p-NK	http://purl.obolibrary.org/obo/CL_0002344		
MONDO:0013278	biolink:Disease	lymphatic malformation 3	Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene.	DOID:0070208|OMIM:613480|UMLS:C3150732	mondo.json	LMPH1C|lymphedema, hereditary, IC|GJC2 hereditary lymphedema|lymphedema, hereditary, type 1C|hereditary lymphedema caused by mutation in GJC2|lymphedema, hereditary, 1C	http://purl.obolibrary.org/obo/MONDO_0013278	https://omim.org/entry/613480|DOID:0070208	
MONDO:0013271	biolink:Disease	frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome		Orphanet:306542|OMIM:613456|UMLS:C3150706|GARD:0012640	mondo.json	frontonasal dysplasia type 3|ALX1-related frontonasal dysplasia|FND3|frontonasal dysplasia 3	http://purl.obolibrary.org/obo/MONDO_0013271	Orphanet:306542|UMLS:C3150706|https://omim.org/entry/613456	gard_rare|ordo_malformation_syndrome
MONDO:0013272	biolink:Disease	chromosome 14q11-q22 deletion syndrome	14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.	Orphanet:261120|UMLS:C3150707|OMIM:613457|SCTID:719047001|UMLS:C4304999|DOID:0060392	mondo.json	14q11.2 microdeletion syndrome|Del(14)(q11.2)|chromosome 14q11-q22 deletion syndrome, isolated cases|monosomy 14q11.2|chromosome 14q11-q22 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013272	Orphanet:261120|http://identifiers.org/snomedct/719047001|UMLS:C4304999|UMLS:C3150707|DOID:0060392|https://omim.org/entry/613457	ordo_malformation_syndrome
HGNC:14872	biolink:NamedThing	ASPN			mondo.json		http://identifiers.org/hgnc/14872		
MONDO:0013270	biolink:Disease	Rett syndrome, congenital variant		UMLS:C3150705|OMIM:613454	mondo.json	Rett syndrome, congenital variant	http://purl.obolibrary.org/obo/MONDO_0013270	UMLS:C3150705|https://omim.org/entry/613454	
MONDO:0013275	biolink:Disease	hemolytic anemia due to glucophosphate isomerase deficiency	Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.	OMIM:613470|Orphanet:712|GARD:0002502|UMLS:C3150730|UMLS:CN072763	mondo.json	glucosephosphate isomerase deficiency|hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency	http://purl.obolibrary.org/obo/MONDO_0013275	https://omim.org/entry/613470|Orphanet:712|UMLS:C3150730|UMLS:CN072763	gard_rare|ordo_disease
MONDO:0013276	biolink:Disease	Reynolds syndrome	Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc).	OMIM:613471|Orphanet:779|SCTID:715401008|UMLS:C0748397|GARD:0004697	mondo.json	primary biliary cirrhosis and systemic scleroderma|primary biliary cirrhosis, Scleroderma, Raynaud disease, and telangiectasia|Reynolds syndrome	http://purl.obolibrary.org/obo/MONDO_0013276	https://omim.org/entry/613471|http://identifiers.org/snomedct/715401008|UMLS:C0748397|Orphanet:779	gard_rare|ordo_disease
MONDO:0013273	biolink:Disease	chromosome 16p13.3 duplication syndrome	16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioural problems.	SCTID:733473000|GARD:0010755|Orphanet:96078|UMLS:C4518796|DOID:0060431|UMLS:C3150708|OMIM:613458	mondo.json	telomeric duplication 16p|16p13.3 microduplication syndrome|trisomy 16pter|chromosome 16p13.3 duplication syndrome|16p13.3 duplication|dup(16)(p13.3)|interstitial 16p13.3 duplication|distal trisomy 16p|chromosome 16p13.3 duplication|distal duplication 16p|chromosome 16p13.3 duplication syndrome, isolated cases	http://purl.obolibrary.org/obo/MONDO_0013273	UMLS:C4518796|Orphanet:96078|http://identifiers.org/snomedct/733473000|UMLS:C3150708|DOID:0060431|https://omim.org/entry/613458	gard_rare|ordo_malformation_syndrome
MONDO:0013274	biolink:Disease	retinitis pigmentosa 51	Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene.	DOID:0110398|ICD10CM:H35.5|UMLS:C3150715|OMIM:613464	mondo.json	retinitis pigmentosa caused by mutation in TTC8|RP51|retinitis pigmentosa 51|TTC8 retinitis pigmentosa|retinitis pigmentosa type 51	http://purl.obolibrary.org/obo/MONDO_0013274	DOID:0110398|UMLS:C3150715|https://omim.org/entry/613464	
MONDO:0001299	biolink:Disease	diabetic autonomic neuropathy	Autonomic neuropathy that is caused by diabetes mellitus.	UMLS:C0271686|SCTID:50620007|ICD9:337.1|NCIT:C27068|DOID:11503	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001299	UMLS:C0271686|NCIT:C27068|http://identifiers.org/snomedct/50620007|DOID:11503	
MONDO:0001298	biolink:Disease	congenital mitral valve insufficiency	Dysfunction of the mitral valve characterized by incomplete valve closure.	SCTID:29928006|MESH:D008944|NCIT:C50888|UMLS:C0158619|DOID:11502|ICD9:746.6|ICD9:396.3	mondo.json	mitral regurgitation|mitral valve incompetence|congenital mitral insufficiency|mitral valve insufficiency|congenital mitral regurgitation|insufficiency, mitral|mitral insufficiency|congenital insufficiency of mitral valve	http://purl.obolibrary.org/obo/MONDO_0001298	UMLS:C0158619|NCIT:C50888|http://identifiers.org/mesh/D008944|http://identifiers.org/snomedct/29928006|DOID:11502	
NCBITaxon:203490	biolink:OrganismalEntity	Fusobacteriia		GC_ID:11	mondo.json	Fusobacteria	http://purl.obolibrary.org/obo/NCBITaxon_203490		
MONDO:0001293	biolink:Disease	subglottis cancer	A malignant neoplasm that affects the subglottic area of the larynx. The vast majority of cases are squamous cell carcinomas.	DOID:11472|ICD10CM:C32.2|ICD9:161.2|UMLS:C0153485|NCIT:C3546|SCTID:363430007	mondo.json	cancer of subglottis|Ca larynx - subglottis|subglottis cancer|malignant tumor of subglottis|malignant tumor of the subglottis|malignant subglottic tumor|malignant neoplasm of subglottis|malignant subglottis neoplasm|malignant subglottis tumor|malignant neoplasm of the subglottis|malignant subglottic neoplasm	http://purl.obolibrary.org/obo/MONDO_0001293	http://identifiers.org/snomedct/363430007|NCIT:C3546|http://purl.bioontology.org/ontology/ICD10CM/C32.2|DOID:11472|UMLS:C0153485	
MONDO:0001292	biolink:Disease	autonomic nervous system disorder	A disease involving the autonomic nervous system.	ICD9:337.1|MESH:D001342|SCTID:15241006|SCTID:128123007|ICD9:337.9|DOID:11465	mondo.json	autonomic dysfunction, segmental|segmental autonomic dysfunction|disorder of peripheral autonomic nervous system|autonomic peripheral nervous system diseases|autonomic nervous system disorders|nervous system diseases, autonomic|segmental autonomic dysfunctions|autonomic nervous system disease or disorder|peripheral autonomic nervous system diseases|nervous system diseases, sympathetic|autonomic nervous system disorder|disorder of autonomic nervous system|autonomic central nervous system diseases|central autonomic nervous system diseases|dysautonomia|disorder of the autonomic nervous system|autonomic dysfunctions, segmental|autonomic disease|disease of autonomic nervous system|ANS disease|autonomic nervous disease|disease or disorder of autonomic nervous system|ANS (autonomic nervous system) diseases|disorders of the autonomic nervous system|ANS diseases|autonomic nervous system disease|autonomic diseases	http://purl.obolibrary.org/obo/MONDO_0001292	http://identifiers.org/mesh/D001342|http://identifiers.org/snomedct/128123007|DOID:11465|http://identifiers.org/snomedct/15241006	
HP:0032169	biolink:PhenotypicFeature	Severe infection	A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.		mondo.json	Unusual course of infection	http://purl.obolibrary.org/obo/HP_0032169		
MONDO:0001291	biolink:Disease	brain compression		ICD10CM:G93.5|DOID:11457|SCTID:46963008|UMLS:C0009592|ICD9:348.4	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001291	UMLS:C0009592|http://purl.bioontology.org/ontology/ICD10CM/G93.5|DOID:11457|http://identifiers.org/snomedct/46963008	
MONDO:0001290	biolink:Disease	allergic cutaneous vasculitis	Inflammation of the small vessels of the skin that is mediated by the immune system.	NCIT:C35119|DOID:11450	mondo.json	allergic cutaneous angiitis|autoimmune hypersensitivity angiitis	http://purl.obolibrary.org/obo/MONDO_0001290	NCIT:C35119|DOID:11450	
MONDO:0001297	biolink:Disease	cardiac tamponade	Acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium from rupture of the heart, penetrating trauma, or progressive effusion.	ICD9:423.3|MESH:D002305|NCIT:C50481|SCTID:35304003|ICD10CM:I31.4|EFO:1001285|DOID:115|UMLS:C0007177	mondo.json	rose's tamponade|pericardial tamponade	http://purl.obolibrary.org/obo/MONDO_0001297	http://purl.bioontology.org/ontology/ICD10CM/I31.4|http://identifiers.org/mesh/D002305|DOID:115|http://identifiers.org/snomedct/35304003|NCIT:C50481|UMLS:C0007177	
NCBITaxon:203491	biolink:OrganismalEntity	Fusobacteriales		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_203491		
HGNC:24200	biolink:NamedThing	FAM111B			mondo.json		http://identifiers.org/hgnc/24200		
NCBITaxon:203492	biolink:OrganismalEntity	Fusobacteriaceae		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_203492		
MONDO:0001296	biolink:Disease	acquired night blindness	An instance of night blindness that is acquired during the lifetime of the individual.	DOID:11491|ICD9:368.62|ICD10CM:H53.62|SCTID:53808001	mondo.json	acquired night blindness	http://purl.obolibrary.org/obo/MONDO_0001296	http://identifiers.org/snomedct/53808001|http://purl.bioontology.org/ontology/ICD10CM/H53.62|DOID:11491	
MONDO:0001295	biolink:Disease	idiopathic peripheral autonomic neuropathy		ICD9:337.00|ICD10CM:G90.0|SCTID:86489003|UMLS:C0154690|DOID:11488|ICD9:337.0	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001295	http://purl.bioontology.org/ontology/ICD10CM/G90.0|DOID:11488|UMLS:C0154690|http://identifiers.org/snomedct/86489003	
MONDO:0001294	biolink:Disease	Horner syndrome	Horner's syndrome is a rare condition characterized by miosis (constriction of thepupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face). It iscaused by damage to the sympathetic nerves of the face. The underlying causes of Horner's syndrome vary greatly and may include a tumor, stroke, or other damage to a part of the brain called the brain stem ; injury to the carotid artery ;and trauma to the brachial plexus. In rare cases, Horner's syndrome is congenital (present from birth) and associated with a lack of pigmentation of the iris (colored part of the eye). Treatment of Horner's syndrome depends on the underlying cause.	GARD:0006670|OMIM:143000|ICD9:337.09|SCTID:192915005|MESH:D006732|NCIT:C28155|DOID:11486	mondo.json	Horner's syndrome|Horner syndrome|oculosympathetic palsy|cervical sympathetic paralysis|Bernard-Horner syndrome|Bernard Horner syndrome	http://purl.obolibrary.org/obo/MONDO_0001294	http://identifiers.org/snomedct/192915005|NCIT:C28155|http://identifiers.org/mesh/D006732|DOID:11486	gard_rare
MONDO:0013268	biolink:Disease	frontonasal dysplasia with alopecia and genital anomaly	Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.	OMIM:613451|SCTID:725029001|UMLS:C3150703|GARD:0012641|Orphanet:228390	mondo.json	frontonasal dysplasia type 2|FND2|ALX4-related FNDAG|frontonasal dysplasia 2|frontonasal dysplasia with alopecia and genital abnomality|craniofrontonasal dysplasia with alopecia and hypogonadism	http://purl.obolibrary.org/obo/MONDO_0013268	https://omim.org/entry/613451|Orphanet:228390|http://identifiers.org/snomedct/725029001|UMLS:C3150703	ordo_malformation_syndrome|gard_rare
HGNC:14889	biolink:NamedThing	DNAJB11			mondo.json		http://identifiers.org/hgnc/14889		
MONDO:0013269	biolink:Disease	autosomal recessive nonsyndromic hearing loss 91	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene.	OMIM:613453|UMLS:C3150704|DOID:0110536	mondo.json	autosomal recessive nonsyndromic deafness caused by mutation in SERPINB6|SERPINB6 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 91|DFNB91|deafness, autosomal recessive 91|autosomal recessive nonsyndromic deafness type 91|autosomal recessive nonsyndromic deafness 91|autosomal recessive deafness 91	http://purl.obolibrary.org/obo/MONDO_0013269	https://omim.org/entry/613453|DOID:0110536|UMLS:C3150704	clingen
CL:0002352	biolink:Cell	gestational hematopoietic stem cell	A hematopoietic stem cell that exists during embryogenesis.		mondo.json		http://purl.obolibrary.org/obo/CL_0002352		
MONDO:0013266	biolink:Disease	intellectual disability, autosomal dominant 20	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene.	OMIM:613443|UMLS:C3150700|DOID:0070050|Orphanet:228384	mondo.json	MRD20|intellectual disability, autosomal dominant type 20|MEF2C autosomal dominant non-syndromic intellectual disability|chromosome 5q14.3 deletion syndrome|mental retardation, autosomal dominant type 20|chromosome 5Q14.3 deletion syndrome, proximal|intellectual disability, autosomal dominant 20|neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language|autosomal dominant non-syndromic intellectual disability caused by mutation in MEF2C|mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations|intellectual disability, stereotypic movements, epilepsy, and/or cerebral malformations|autosomal dominant intellectual disability 20|autosomal dominant mental retardation 20|mental retardation, autosomal dominant 20	http://purl.obolibrary.org/obo/MONDO_0013266	https://omim.org/entry/613443|DOID:0070050|UMLS:C3150700	
MONDO:0013267	biolink:Disease	distal 16p11.2 microdeletion syndrome	Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.	UMLS:C3150701|SCTID:733521003|UMLS:C4518824|Orphanet:261222|OMIM:613444|DOID:0060398	mondo.json	chromosome 16p11.2 deletion syndrome, 220-KB|obesity, susceptibility to|distal monosomy 16p11.2|chromosome 16p11.2 deletion syndrome, 220kb|distal del(16)(p11.2)|body Mass index quantitative trait locus 16|body mass index QTL16|distal 16p11.2 microdeletion syndrome|chromosome 16p11.2 deletion syndrome, type 220kb	http://purl.obolibrary.org/obo/MONDO_0013267	DOID:0060398|https://omim.org/entry/613444|Orphanet:261222|UMLS:C4518824|http://identifiers.org/snomedct/733521003|UMLS:C3150701	ordo_malformation_syndrome
CL:1000362	biolink:Cell	transitional myocyte of interventricular septum	A transitional myocyte that is part of the interventricular septum.	FMA:263154	mondo.json		http://purl.obolibrary.org/obo/CL_1000362		
CL:0002359	biolink:Cell	placental hematopoietic stem cell	A hematopoietic stem cell of the placenta. This cell type is first observed E10.5 This cell type may give rise to fetal liver hematopoietic stem cells.		mondo.json		http://purl.obolibrary.org/obo/CL_0002359		
CL:1000361	biolink:Cell	transitional myocyte of interatrial septum	A transitional myocyte that is part of the interatrial septum.	FMA:263152	mondo.json		http://purl.obolibrary.org/obo/CL_1000361		
HGNC:14888	biolink:NamedThing	DNAJB6			mondo.json		http://identifiers.org/hgnc/14888		
MONDO:0013260	biolink:Disease	esophagitis, eosinophilic, 2		OMIM:613412|UMLS:C3150679	mondo.json	esophagitis, eosinophilic, 2|EOE2	http://purl.obolibrary.org/obo/MONDO_0013260	UMLS:C3150679|https://omim.org/entry/613412	
HGNC:14881	biolink:NamedThing	ZEB2			mondo.json		http://identifiers.org/hgnc/14881		
MONDO:0013261	biolink:Disease	dilated cardiomyopathy 1R	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.	OMIM:613424|DOID:0110456	mondo.json	cardiomyopathy, dilated, type 1R|cardiomyopathy, dilated, 1R|dilated cardiomyopathy type 1R|left ventricular noncompaction 4|ACTC1 familial isolated dilated cardiomyopathy|CMD1R|familial isolated dilated cardiomyopathy caused by mutation in ACTC1	http://purl.obolibrary.org/obo/MONDO_0013261	https://omim.org/entry/613424|DOID:0110456	
GO:0035051	biolink:NamedThing	cardiocyte differentiation	The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a cell that will form part of the cardiac organ of an individual.		mondo.json	cardiac cell differentiation|heart cell differentiation	http://purl.obolibrary.org/obo/GO_0035051		
MONDO:0013264	biolink:Disease	amyotrophic lateral sclerosis type 12	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the OPTN gene.	OMIM:613435|DOID:0060203|UMLS:C3150692	mondo.json	amyotrophic lateral sclerosis type 12|OPTN amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 12 with or without frontotemporal dementia|amyotrophic lateral sclerosis caused by mutation in OPTN|ALS12|amyotrophic lateral sclerosis 12	http://purl.obolibrary.org/obo/MONDO_0013264	https://omim.org/entry/613435|UMLS:C3150692|DOID:0060203	
MONDO:0013265	biolink:Disease	autism, susceptibility to, 17		OMIM:613436	mondo.json	susceptibility to autism 17|autism, susceptibility to, 17|AUTS17|autism, susceptibility to, type 17|autism susceptibility 17	http://purl.obolibrary.org/obo/MONDO_0013265	https://omim.org/entry/613436	predisposition
MONDO:0013262	biolink:Disease	dilated cardiomyopathy 1S	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.	DOID:0110454|MESH:C563538|GARD:0012832|OMIM:613426	mondo.json	cardiomyopathy, dilated, 1S|dilated cardiomyopathy-1S|cardiomyopathy, dilated, type 1S|MYH7 familial isolated dilated cardiomyopathy|left ventricular noncompaction 5|dilated cardiomyopathy type 1S|CMD1S|familial isolated dilated cardiomyopathy caused by mutation in MYH7	http://purl.obolibrary.org/obo/MONDO_0013262	https://omim.org/entry/613426|DOID:0110454|http://identifiers.org/mesh/C563538	gard_rare
CL:0002351	biolink:Cell	progenitor cell of endocrine pancreas	A progenitor cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 and Isl-1.		mondo.json	pancreatic endocrine progenitor|pancreatic islet progenitor cell	http://purl.obolibrary.org/obo/CL_0002351		
MONDO:0013263	biolink:Disease	retinitis pigmentosa 54	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PCARE gene.	DOID:0110364|ICD10CM:H35.5|OMIM:613428|UMLS:C3150691	mondo.json	retinitis pigmentosa type 54|PCARE retinitis pigmentosa|RP54|retinitis pigmentosa caused by mutation in PCARE|retinitis pigmentosa 54	http://purl.obolibrary.org/obo/MONDO_0013263	https://omim.org/entry/613428|DOID:0110364|UMLS:C3150691	
CL:0002350	biolink:Cell	endocardial cell	An endothelial cell that lines the intracavitary lumen of the heart, separating the circulating blood from the underlying myocardium. This cell type releases a number of vasoactive substances including prostacyclin, nitrous oxide and endothelin.	FMA:75621	mondo.json	endothelial cell of endocardium|endocardial endothelial cell	http://purl.obolibrary.org/obo/CL_0002350		
HGNC:14880	biolink:NamedThing	GTPBP3			mondo.json		http://identifiers.org/hgnc/14880		
MONDO:0001268	biolink:Disease	gingival recession	A loss of gum tissue resulting in an exposure of the roots of the teeth.	ICD9:523.20|ICD9:523.2|ICD10CM:K06.0|MESH:D005889|SCTID:59898000|UMLS:C0266916|ICD9:523.24|UMLS:C0017572|ICD9:523.23|ICD9:523.22|DOID:1134|ICD9:523.21	mondo.json	gingival recession|localized gingival recession|gingival recession, localized|gingival recession, unspecified|minimal gingival recession|moderate gingival recession|severe gingival recession	http://purl.obolibrary.org/obo/MONDO_0001268	DOID:1134|UMLS:C0017572|http://identifiers.org/mesh/D005889|http://purl.bioontology.org/ontology/ICD10CM/K06.0|http://identifiers.org/snomedct/59898000|UMLS:C0266916	
MONDO:0001267	biolink:Disease	obsolete Lemierre syndrome			mondo.json	obsolete Lemierre's syndrome	http://purl.obolibrary.org/obo/MONDO_0001267		
MONDO:0001266	biolink:Disease	erysipelas	An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch.	HP:0001055|DOID:11330|ICD9:035|GARD:0006370|ICD10CM:A46|UMLS:C0014733|MESH:D004886|EFO:1001462|SCTID:44653001	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001266	DOID:11330|http://identifiers.org/mesh/D004886|UMLS:C0014733|http://identifiers.org/snomedct/44653001|http://purl.bioontology.org/ontology/ICD10CM/A46	gard_rare
MONDO:0001265	biolink:Disease	schizophreniform disorder	A disorder that differs from schizophrenia specifically in total duration (schizophreniform disorder lasts at least 1 month but less than 6 months whereas schizophrenia lasts at least 6 months); schizophreniform disorder also typically causes less impairment in the individual's social and occupational functioning.	NCIT:C94376|SCTID:88975006|ICD10CM:F20.81|ICD9:295.4|DOID:11328	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001265	DOID:11328|http://identifiers.org/snomedct/88975006|NCIT:C94376|http://purl.bioontology.org/ontology/ICD10CM/F20.81	
GO:0106016	biolink:NamedThing	positive regulation of inflammatory response to wounding	Any process that activates or increases the frequency, rate or extent of the inflammatory response to wounding.		mondo.json		http://purl.obolibrary.org/obo/GO_0106016		
GO:0106015	biolink:NamedThing	negative regulation of inflammatory response to wounding	Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response to wounding.		mondo.json		http://purl.obolibrary.org/obo/GO_0106015		
HGNC:26837	biolink:NamedThing	AMER1			mondo.json		http://identifiers.org/hgnc/26837		
GO:0106014	biolink:NamedThing	regulation of inflammatory response to wounding	Any process that modulates the frequency, rate or extent of the inflammatory response to wounding.		mondo.json		http://purl.obolibrary.org/obo/GO_0106014		
MONDO:0001269	biolink:Disease	scleral disorder	A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare.	MESH:D015422|ICD9:379.19|Orphanet:519298|SCTID:33064008|NCIT:C79717|DOID:11343|UMLS:C0036412	mondo.json	scleral disorder|disease of sclera|disease or disorder of sclera|sclera disorder|sclera disease|sclera disease or disorder|disorder of sclera	http://purl.obolibrary.org/obo/MONDO_0001269	UMLS:C0036412|DOID:11343|http://identifiers.org/snomedct/33064008|NCIT:C79717|http://identifiers.org/mesh/D015422	
MONDO:0001260	biolink:Disease	cercarial dermatitis	An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin.	ICD9:120.3|ICD10CM:B65.3|SCTID:238534006|ICD9:709.8|NCIT:C128349|UMLS:C4282208|UMLS:C0546996|GARD:0009747|DOID:11302	mondo.json	lake Itch|cutaneous schistosomiasis|Sea bather's eruption|duck Itch|swimmer's itch	http://purl.obolibrary.org/obo/MONDO_0001260	DOID:11302|http://identifiers.org/snomedct/238534006|UMLS:C0546996|NCIT:C128349|http://purl.bioontology.org/ontology/ICD10CM/B65.3|UMLS:C4282208	gard_rare
CL:0002328	biolink:Cell	bronchial epithelial cell	An epithelial cell of the bronchus.	BTO:0002922	mondo.json		http://purl.obolibrary.org/obo/CL_0002328		
CL:0002327	biolink:Cell	mammary gland epithelial cell	An epithelial cell of the mammary gland.	BTO:0004300	mondo.json	mammary epithelial cell|breast epithelial cell	http://purl.obolibrary.org/obo/CL_0002327		
GO:0023061	biolink:NamedThing	signal release	The process in which a signal is secreted or discharged into the extracellular medium from a cellular source.		mondo.json	signal secretion	http://purl.obolibrary.org/obo/GO_0023061		
MONDO:0001264	biolink:Disease	obsolete Kyasanur forest disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001264		
MONDO:0001263	biolink:Disease	histoplasmosis retinitis	An retinitis caused by infection with Histoplasma capsulatum.	UMLS:C0153278|ICD9:115.92|SCTID:187058000|DOID:11316	mondo.json	Histoplasma capsulatum caused retinitis|Histoplasma capsulatum retinitis|histoplasmosis with retinitis	http://purl.obolibrary.org/obo/MONDO_0001263	DOID:11316|http://identifiers.org/snomedct/187058000|UMLS:C0153278	
MONDO:0001262	biolink:Disease	African histoplasmosis	An disease or disorder caused by infection with Histoplasma capsulatum var. duboisii.	UMLS:C0220977|ICD9:115.10|SCTID:78511005|DOID:11315	mondo.json	Histoplasma duboisii infection|large form histoplasmosis|infection by Histoplasma duboisii|Histoplasma capsulatum var. duboisii infectious disease|Histoplasma capsulatum var. duboisii caused disease or disorder|Histoplasma capsulatum var. duboisii disease or disorder|African histoplasmosis	http://purl.obolibrary.org/obo/MONDO_0001262	DOID:11315|UMLS:C0220977|http://identifiers.org/snomedct/78511005	
MONDO:0001261	biolink:Disease	Mobitz type II atrioventricular block	A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a relatively constant PR interval prior to the block of an atrial impulse. (CDISC)	DOID:11312|SCTID:28189009|UMLS:C0155700|NCIT:C62018|ICD9:426.12	mondo.json	AV block second degree Mobitz type II|Möbitz II|type 2 2nd degree AV block|type II second degree atrioventricular block|Mobitz II atrioventricular block|second degree atrioventricular block Mobitz type II|Mobitz type II second degree AV block|type II second degree AV block|Mobitz (type) II atrioventricular block|AV block second degree Möbitz type II|Mobitz II|type 2 second degree AV block|Möbitz type II second degree AV block|second degree atrioventricular block Möbitz type II	http://purl.obolibrary.org/obo/MONDO_0001261	DOID:11312|UMLS:C0155700|http://identifiers.org/snomedct/28189009|NCIT:C62018	
CL:0002320	biolink:Cell	connective tissue cell	A cell of the supporting or framework tissue of the body, arising chiefly from the embryonic mesoderm and including adipose tissue, cartilage, and bone.	FMA:63875|CALOHA:TS-2096	mondo.json		http://purl.obolibrary.org/obo/CL_0002320		
MONDO:0013257	biolink:Disease	leprosy, susceptibility to, 6		OMIM:613407	mondo.json	LPRS6|leprosy, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0013257	https://omim.org/entry/613407	predisposition
MONDO:0013258	biolink:Disease	autism, susceptibility to, 16		OMIM:613410	mondo.json	AUTS16|susceptibility to autism 16|autism, susceptibility to, 16|autism susceptibility 16|autism, susceptibility to, type 16|autism with or without seizures	http://purl.obolibrary.org/obo/MONDO_0013258	https://omim.org/entry/613410	predisposition
HGNC:14857	biolink:NamedThing	COG5			mondo.json		http://identifiers.org/hgnc/14857		
MONDO:0013255	biolink:Disease	arthrogryposis, renal dysfunction, and cholestasis 2	Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene.	DOID:0111354|OMIM:613404|UMLS:C3150672	mondo.json	arthrogryposis, renal dysfunction, and cholestasis type 2|ARCS2|arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VIPAS39|arthrogryposis, renal dysfunction, and cholestasis 2|VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndrome	http://purl.obolibrary.org/obo/MONDO_0013255	https://omim.org/entry/613404|DOID:0111354|UMLS:C3150672	
CL:1000398	biolink:Cell	endothelial cell of hepatic sinusoid	An endothelial cell that is part of the hepatic sinusoid. These cells possess flattened areas containing perforations about 0.1 micrometers in diameter, known as fenestrae. The fenestrae are arranged in groups known as sieve plates.	FMA:62911|BTO:000125	mondo.json	endotheliocyte of hepatic sinusoid|LSEC|liver sinusoidal endothelial cell	http://purl.obolibrary.org/obo/CL_1000398		
CL:0002321	biolink:Cell	embryonic cell (metazoa)	A cell of the embryo.	FMA:82841|FMA:82840|WBbt:0007028|CALOHA:TS-0263	mondo.json		http://purl.obolibrary.org/obo/CL_0002321		
MONDO:0013256	biolink:Disease	chromosome 15q24 deletion syndrome	15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.	SCTID:699308002|DOID:0060395|UMLS:CN237818|DECIPHER:66|MESH:C579849|Orphanet:94065|GARD:0012219|OMIM:613406|UMLS:C3150674	mondo.json	WITKOS|monosomy 15q24|Del(15)(q24)|15q24 microdeletion syndrome|chromosome 15q24 deletion syndrome|chromosome 15Q24 Duplication syndrome|Witteveen-Kolk syndrome|15q24 recurrent microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013256	DOID:0060395|Orphanet:94065|http://identifiers.org/snomedct/699308002|https://omim.org/entry/613406|http://identifiers.org/mesh/C579849|UMLS:CN237818|UMLS:C3150674	ordo_malformation_syndrome
CL:0002324	biolink:Cell	myoepithelial cell of mammary gland	A myoepithelial cell that surrounds milk-secreting luminal epithelial cells. This cell type contracts under the stimulation of oxytocin and is attached to the basement membrane by hemidesmosomes and to the adjacent luminal cells by desmosomes. This cell type expresses high level of keratin-14 and is estrogen receptor alpha negative.	FMA:67800|CALOHA:TS-2378	mondo.json	basal cell of lactiferous duct|myoepithelial cell of lactiferous gland	http://purl.obolibrary.org/obo/CL_0002324		
MONDO:0013259	biolink:Disease	Oguchi disease-2	Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene.	UMLS:C3150678|OMIM:613411|DOID:0110713	mondo.json	GRK1 Oguchi disease|Oguchi disease 2|Oguchi disease type 2|congenital stationary night blindness Oguchi type 2|CSNBO2|Oguchi disease caused by mutation in GRK1|night blindness, congenital stationary, Oguchi type 2	http://purl.obolibrary.org/obo/MONDO_0013259	UMLS:C3150678|DOID:0110713|https://omim.org/entry/613411	
CL:0002325	biolink:Cell	mammary alveolar cell	The milk-producing cell of the alveolar unit that emerges during pregnancy.	FMA:79866|FMA:74506	mondo.json	mammary alveolar epithelial cell|luminal cell of alveolus of lactiferous gland|mammary gland alveolar epithelial cell|epithelial cell of lactiferous gland	http://purl.obolibrary.org/obo/CL_0002325		
CL:1000391	biolink:Cell	melanocyte of eyelid	A melanocyte that is part of the eyelid.	FMA:59175	mondo.json	eyelid melanocyte|sebaceous gland of wolff	http://purl.obolibrary.org/obo/CL_1000391		
MONDO:0013250	biolink:Disease	autosomal recessive nonsyndromic hearing loss 85	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2.	DOID:0110531|OMIM:613392|UMLS:C3160740	mondo.json	autosomal recessive deafness 85|autosomal recessive nonsyndromic deafness type 85|deafness, autosomal recessive 85|DFNB85|autosomal recessive nonsyndromic deafness 85	http://purl.obolibrary.org/obo/MONDO_0013250	https://omim.org/entry/613392|UMLS:C3160740|DOID:0110531	
MONDO:0013253	biolink:Disease	breast-ovarian cancer, familial, susceptibility to, 3	Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51C gene.	OMIM:613399	mondo.json	breast-ovarian cancer, familial, susceptibility to, type 3|hereditary breast ovarian cancer syndrome caused by mutation in Rad51C|hereditary breast ovarian cancer syndrome caused by mutation in RAD51C|RAD51C hereditary breast ovarian cancer syndrome|Rad51C hereditary breast ovarian cancer syndrome|breast cancer, familial, susceptibility to, 3|ovarian cancer, familial, susceptibility to, 3|BROVCA3|breast-ovarian cancer, familial, susceptibility to, 3|susceptibility to familial breast-ovarian cancer 3	http://purl.obolibrary.org/obo/MONDO_0013253	https://omim.org/entry/613399	predisposition
MONDO:0013254	biolink:Disease	microcephaly, seizures, and developmental delay		UMLS:C3150667|GARD:0010933|DOID:0080457|OMIM:613402|Orphanet:228418	mondo.json	microcephaly - seizures - developmental delay|epileptic encephalopathy, early infantile, 10|MCSZ|EIEE10|microcephaly, seizures, and developmental delay|early infantile epileptic encephalopathy-10	http://purl.obolibrary.org/obo/MONDO_0013254	https://omim.org/entry/613402|DOID:0080457|UMLS:C3150667	gard_rare
MONDO:0013251	biolink:Disease	Birbeck granule deficiency		OMIM:613393|UMLS:C3150657	mondo.json	Birbeck granules, absence of|Birbeck granule deficiency	http://purl.obolibrary.org/obo/MONDO_0013251	https://omim.org/entry/613393|UMLS:C3150657	
MONDO:0013252	biolink:Disease	Warsaw breakage syndrome	A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11.	SCTID:702829000|Orphanet:280558|ICD9:759.89|DOID:0060535|OMIM:613398|UMLS:C3150658	mondo.json	WABS|Warsaw breakage syndrome|WARSAW breakage syndrome	http://purl.obolibrary.org/obo/MONDO_0013252	DOID:0060535|Orphanet:280558|http://identifiers.org/snomedct/702829000|https://omim.org/entry/613398|UMLS:C3150658	ordo_malformation_syndrome
MONDO:0001279	biolink:Disease	intraspinal meningioma	A meningioma that arises from the spinal meninges.	DOID:1140|UMLS:C1334264|NCIT:C5134	mondo.json	meningioma of spinal canal and spinal cord|meningioma of the spinal canal and spinal cord|intraspinal meningioma|spinal canal and spinal cord meningioma	http://purl.obolibrary.org/obo/MONDO_0001279	NCIT:C5134|DOID:1140|UMLS:C1334264	
GO:0023056	biolink:NamedThing	positive regulation of signaling	Any process that activates, maintains or increases the frequency, rate or extent of a signaling process.		mondo.json	positive regulation of signaling process|positive regulation of signalling process	http://purl.obolibrary.org/obo/GO_0023056		
MONDO:0001278	biolink:Disease	obsolete adult respiratory distress syndrome	OBSOLETE. A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0001278		
MONDO:0001277	biolink:Disease	cerebral arteritis	An inflammatory disease involving a pathogenic inflammatory response in the cerebral artery.	ICD9:437.4|SCTID:28366008|UMLS:C0007773|DOID:11390	mondo.json	cerebral artery inflammation|inflammation of cerebral artery	http://purl.obolibrary.org/obo/MONDO_0001277	http://identifiers.org/snomedct/28366008|DOID:11390|UMLS:C0007773	
MONDO:0001276	biolink:Disease	expressive language disorder	A disorder characterized by an impairment in the development of an individual's expressive language which is in contrast to his/her nonverbal intellect and receptive language development. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult).	DOID:11385|NCIT:C92562|ICD10CM:F80.1|SCTID:229733002|ICD9:315.31	mondo.json	expressive language disorder|developmental expressive language disorder	http://purl.obolibrary.org/obo/MONDO_0001276	DOID:11385|http://purl.bioontology.org/ontology/ICD10CM/F80.1|NCIT:C92562|http://identifiers.org/snomedct/229733002	
GO:0023057	biolink:NamedThing	negative regulation of signaling	Any process that stops, prevents, or reduces the frequency, rate or extent of a signaling process.		mondo.json	negative regulation of signalling process|negative regulation of signaling process	http://purl.obolibrary.org/obo/GO_0023057		
HP:0032180	biolink:PhenotypicFeature	Abnormal circulating metabolite concentration	An abnormal level of an analyte measured in the blood.		mondo.json		http://purl.obolibrary.org/obo/HP_0032180		
CL:0002339	biolink:Cell	prostate stem cell	A prostate epithelial cell that is CD133-positive, CD44-positive, integrin A2beta3-high. This cell is a stem cell for the prostate epithelium.		mondo.json	CD133-positive prostate epithelial cell	http://purl.obolibrary.org/obo/CL_0002339		
MONDO:0001271	biolink:Disease	lens subluxation	A partial dislocation of the lens of the eye.	HP:0001132|DOID:11364|MESH:D007906|ICD9:379.32|NCIT:C34772|SCTID:65814009|UMLS:C0023316	mondo.json	lens subluxation|subluxation of lens|lens subluxation (disease)	http://purl.obolibrary.org/obo/MONDO_0001271	http://identifiers.org/snomedct/65814009|NCIT:C34772|UMLS:C0023316|http://identifiers.org/mesh/D007906|DOID:11364	
MONDO:0001270	biolink:Disease	stone in bladder diverticulum		DOID:11354|SCTID:18109005|ICD9:594.0|UMLS:C0156265	mondo.json	calculus in diverticulum of bladder	http://purl.obolibrary.org/obo/MONDO_0001270	UMLS:C0156265|http://identifiers.org/snomedct/18109005|DOID:11354	
CL:0002338	biolink:Cell	CD56-positive, CD161-positive immature natural killer cell, human	A natural killer cell that is developmentally immature, has the phenotype CD34-negative, CD56-positive, CD117-positive, CD122-positive,and CD161-positive.		mondo.json	p-NK	http://purl.obolibrary.org/obo/CL_0002338		
MONDO:0001275	biolink:Disease	spinal meningioma	Spinal meningioma isa rare type of spinal cord cancer. The spinal cord is part of the central nervous system. This tumor often affects middle-aged women. Tumors of the spinal cord can be either primary or arise from other primary tumors (metastatic), and are typically slow growing. The initial signs and symptoms include headacheand recent onset of seizures. Other features are motor deficits, sensory deficits, pain, and sphincter dysfunction. The thoracic spine (middle back) is the most common site, followed by the cervical spine (neck). These tumors are rarely seen in the lumbar region (lower back). T he only proven risk factor in the development of meningioma is exposure to ionizing radiation. Also, patients with neurofibromatosis type 2 are at increased risk of developing meningioma. Surgery is the treatment of choice and complete tumor removal is reached in the vast majority of patients. The prognosis after surgical resection is excellent.	UMLS:C0347515|DOID:1138|NCIT:C6935|SCTID:189167009|GARD:0010264	mondo.json	meningioma of the spinal cord|meningioma of spinal cord|meningioma, spine|spinal cord meningioma (disease)|meningioma (disease) of spinal cord|spinal cord meningioma	http://purl.obolibrary.org/obo/MONDO_0001275	NCIT:C6935|http://identifiers.org/snomedct/189167009|UMLS:C0347515|DOID:1138	gard_rare
GO:0023052	biolink:NamedThing	signaling	The entirety of a process in which information is transmitted within a biological system. This process begins with an active signal and ends when a cellular response has been triggered.		mondo.json	single organism signaling|signalling|biological signaling|signaling process|signalling process	http://purl.obolibrary.org/obo/GO_0023052		
MONDO:0001274	biolink:Disease	anal spasm		DOID:11374|ICD10CM:K59.4|UMLS:C0152167|ICD9:564.6|SCTID:17440005	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001274	DOID:11374|http://identifiers.org/snomedct/17440005|UMLS:C0152167|http://purl.bioontology.org/ontology/ICD10CM/K59.4	
GO:0023051	biolink:NamedThing	regulation of signaling	Any process that modulates the frequency, rate or extent of a signaling process.		mondo.json	regulation of signaling process|regulation of signalling process	http://purl.obolibrary.org/obo/GO_0023051		
MONDO:0001273	biolink:Disease	megacolon	An abnormal dilation of the colon not due to obstruction.	ICD9:564.7|MESH:D008531|DOID:11372|NCIT:C34810|SCTID:33995003	mondo.json	dilatation of colon	http://purl.obolibrary.org/obo/MONDO_0001273	DOID:11372|http://identifiers.org/snomedct/33995003|http://identifiers.org/mesh/D008531|NCIT:C34810	
MONDO:0001272	biolink:Disease	functional diarrhea		UMLS:C0156173|DOID:11371|ICD9:564.5|ICD10CM:K59.1|SCTID:47812002	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001272	http://identifiers.org/snomedct/47812002|http://purl.bioontology.org/ontology/ICD10CM/K59.1|UMLS:C0156173|DOID:11371	
MONDO:0013246	biolink:Disease	fatty liver disease, nonalcoholic, susceptibility to, 2		OMIM:613387	mondo.json	fatty liver disease, nonalcoholic, susceptibility to, 2|NAFLD2	http://purl.obolibrary.org/obo/MONDO_0013246	https://omim.org/entry/613387	predisposition
HGNC:14867	biolink:NamedThing	APOL4			mondo.json		http://identifiers.org/hgnc/14867		
MONDO:0013247	biolink:Disease	Fanconi renotubular syndrome 2	Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.	OMIM:613388|UMLS:C3150652	mondo.json	Fanconi renotubular syndrome 2|FRTS2|Fanconi renotubular syndrome type 2|Fanconi syndrome caused by mutation in SLC34A1|SLC34A1 Fanconi syndrome	http://purl.obolibrary.org/obo/MONDO_0013247	UMLS:C3150652|https://omim.org/entry/613388	
MONDO:0013244	biolink:Disease	brachydactyly type E2	Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene.	OMIM:613382|UMLS:C3150644|DOID:0110976	mondo.json	BDE2|brachydactyly type E2|PTHLH brachydactyly type E|brachydactyly, type E2|brachydactyly type E caused by mutation in PTHLH	http://purl.obolibrary.org/obo/MONDO_0013244	UMLS:C3150644|DOID:0110976|https://omim.org/entry/613382	
CL:0002333	biolink:Cell	neural crest derived fat cell	A fat cell derived from a neural crest cell.		mondo.json		http://purl.obolibrary.org/obo/CL_0002333		
MONDO:0013245	biolink:Disease	syndromic multisystem autoimmune disease due to ITCH deficiency		Orphanet:228426|GARD:0010775|UMLS:C3150649|OMIM:613385	mondo.json	syndromic multisystem autoimmune disease|autoimmune disease, multisystem, with facial dysmorphism|ADMFD|autoimmune disease, syndromic multisystem|syndromic multisystem autoimmune disease due to ITCH deficiency|ITCH E3 ubiquitin ligase deficiency	http://purl.obolibrary.org/obo/MONDO_0013245	UMLS:C3150649|https://omim.org/entry/613385|Orphanet:228426	ordo_disease|gard_rare
CL:0002332	biolink:Cell	ciliated cell of the bronchus	A ciliated cell of the bronchus.		mondo.json		http://purl.obolibrary.org/obo/CL_0002332		
MONDO:0013248	biolink:Disease	Fanconi anemia complementation group O	Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.	OMIM:613390|DOID:0111096|UMLS:C3150653	mondo.json	FANCO|Fanconi Anemia, complementation group type O|Fanconi anemia caused by mutation in RAD51C|Fanconi anemia caused by mutation in Rad51C|Fanconi anemia, complementation group O|RAD51C Fanconi anemia|Rad51C Fanconi anemia|Fanconi anemia complementation group type O	http://purl.obolibrary.org/obo/MONDO_0013248	UMLS:C3150653|https://omim.org/entry/613390|DOID:0111096	
CL:0002336	biolink:Cell	buccal mucosa cell	An endothelial cell that lines the oral cavitiy including the mucosa of the gums, the palate, the lip, and the cheek.		mondo.json		http://purl.obolibrary.org/obo/CL_0002336		
MONDO:0013249	biolink:Disease	autosomal recessive nonsyndromic hearing loss 84A	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene.	OMIM:613391|DOID:0110529|UMLS:C3150654	mondo.json	autosomal recessive nonsyndromic deafness type 84A|autosomal recessive nonsyndromic deafness 84A|deafness, autosomal recessive 84a|deafness, autosomal recessive 84A|deafness, autosomal recessive 84|PTPRQ autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 84A, with vestibular dysfunction|autosomal recessive nonsyndromic deafness caused by mutation in PTPRQ|DFNB84A|deafness, autosomal recessive type 84A|autosomal recessive deafness 84A with vestibular dysfunction|autosomal recessive deafness 84A	http://purl.obolibrary.org/obo/MONDO_0013249	UMLS:C3150654|DOID:0110529|https://omim.org/entry/613391	
NCBITaxon:37989	biolink:OrganismalEntity	Xylariales		GC_ID:1	mondo.json	Sphaeriales	http://purl.obolibrary.org/obo/NCBITaxon_37989		
NCBITaxon:37987	biolink:OrganismalEntity	Pneumocystidales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_37987		
NCBITaxon:35324	biolink:OrganismalEntity	unclassified Orthomyxoviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_35324		
MONDO:0013242	biolink:Disease	maturity-onset diabetes of the young type 11	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the BLK gene.	SCTID:609578001|UMLS:C3150618|OMIM:613375|DOID:0111109	mondo.json	MODY11|BLK maturity-onset diabetes of the young (disease)|maturity-onset diabetes of the young, type 11|maturity-onset diabetes of the young (disease) caused by mutation in BLK	http://purl.obolibrary.org/obo/MONDO_0013242	https://omim.org/entry/613375|http://identifiers.org/snomedct/609578001|DOID:0111109|UMLS:C3150618	
NCBITaxon:35325	biolink:OrganismalEntity	dsRNA viruses		GC_ID:1	mondo.json	dsRNA nonenveloped viruses	http://purl.obolibrary.org/obo/NCBITaxon_35325		
MONDO:0013243	biolink:Disease	neuronopathy, distal hereditary motor, type 2C	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene.	OMIM:613376|UMLS:C3150619|DOID:0111209	mondo.json	neuronopathy, distal hereditary motor, type IIC|HSPB3 neuronopathy, distal hereditary motor|HMN 2C|neuronopathy, distal hereditary motor caused by mutation in HSPB3|HMN2C|neuropathy, distal hereditary motor, type 2C	http://purl.obolibrary.org/obo/MONDO_0013243	UMLS:C3150619|https://omim.org/entry/613376|DOID:0111209	
MONDO:0013240	biolink:Disease	maturity-onset diabetes of the young type 10	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the INS gene.	OMIM:613370|UMLS:C3150617|SCTID:609577006|DOID:0111108	mondo.json	INS maturity-onset diabetes of the young (disease)|maturity-onset diabetes of the young, type 10|MODY10|maturity-onset diabetes of the young (disease) caused by mutation in INS	http://purl.obolibrary.org/obo/MONDO_0013240	https://omim.org/entry/613370|DOID:0111108|http://identifiers.org/snomedct/609577006|UMLS:C3150617	
MONDO:0013241	biolink:Disease	spinocerebellar ataxia type 30	Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by a slowly progressive and relatively pure ataxia.	GARD:0004950|UMLS:C2936793|UMLS:C4304845|DOID:0050979|SCTID:719253007|Orphanet:211017|MESH:C537206|MESH:C575214|OMIM:613371	mondo.json	spinocerebellar ataxia 30|SCA30|spinocerebellar ataxia type 30	http://purl.obolibrary.org/obo/MONDO_0013241	http://identifiers.org/mesh/C575214|https://omim.org/entry/613371|http://identifiers.org/snomedct/719253007|UMLS:C2936793|Orphanet:211017|DOID:0050979	gard_rare|ordo_disease
MONDO:0003700	biolink:Disease	brachial plexus neoplasm	A neoplasm (disease) that involves the brachial nerve plexus.	UMLS:C1332602|NCIT:C5823|DOID:5913	mondo.json	neoplasm of brachial nerve plexus|brachial nerve plexus tumor|neoplasm of the brachial plexus|neoplasm of brachial plexus|brachial plexus tumor|brachial nerve plexus neoplasm|brachial plexus neoplasms|tumor of the brachial plexus|tumor of brachial nerve plexus|brachial plexus neoplasm|tumor of brachial plexus|brachial nerve plexus neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0003700	NCIT:C5823|UMLS:C1332602|DOID:5913	
MONDO:0003701	biolink:Disease	thyroid gland diffuse sclerosing papillary carcinoma	A morphologic variant of papillary carcinoma of the thyroid gland that more often affects young patients and commonly metastasizing to the lungs. It is characterized by a diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration.	UMLS:C1321862|ICDO:8350/3|DOID:5914|NCIT:C7427|UMLS:C0334330	mondo.json	nonencapsulated sclerosing carcinoma|papillary carcinoma, diffuse sclerosing|nonencapsulated sclerosing tumor|thyroid gland diffuse sclerosing papillary carcinoma|nonencapsulated sclerosing papillary thyroid carcinoma|nonencapsulated sclerosing adenocarcinoma|nonencapsulated sclerosing neoplasm	http://purl.obolibrary.org/obo/MONDO_0003701	UMLS:C0334330|DOID:5914|NCIT:C7427	
MONDO:0003702	biolink:Disease	uterus intravascular leiomyomatosis	A rare benign neoplasm characterized by the presence of smooth muscle cells growing within the veins of the uterine corpus. The intravascular neoplasm growth occurs outside the confines of an adjacent leiomyoma.	DOID:5915|NCIT:C5356	mondo.json	intravenous leiomyomatosis of uterus|intravascular leiomyomatosis of uterus|intravenous leiomyomatosis of the uterus|intravascular leiomyomatosis of the uterus|uterine corpus intravenous leiomyomatosis|uterus intravenous leiomyomatosis	http://purl.obolibrary.org/obo/MONDO_0003702	NCIT:C5356|DOID:5915	
MONDO:0003703	biolink:Disease	obsolete uterine corpus leiomyomatosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003703		
GO:0001810	biolink:NamedThing	regulation of type I hypersensitivity	Any process that modulates the frequency, rate, or extent of type I hypersensitivity, a type of inflammatory response.		mondo.json		http://purl.obolibrary.org/obo/GO_0001810		
CL:1000458	biolink:Cell	melanocyte of skin	A melanocyte that is part of the skin of body.	FMA:72144|CALOHA:TS-2374	mondo.json	skin melanocyte	http://purl.obolibrary.org/obo/CL_1000458		
CL:1000457	biolink:Cell	mesothelial cell of visceral peritoneum	A mesothelial cell that is part of the visceral peritoneum.	FMA:72143	mondo.json		http://purl.obolibrary.org/obo/CL_1000457		
CL:1000456	biolink:Cell	mesothelial cell of parietal peritoneum	A mesothelial cell that is part of the parietal peritoneum.	FMA:72142	mondo.json		http://purl.obolibrary.org/obo/CL_1000456		
CL:1000454	biolink:Cell	kidney collecting duct epithelial cell	An epithelial cell that is part of the collecting duct of renal tubule.	KUPO:0001059|FMA:70982	mondo.json	epithelial cell of renal collecting tubule	http://purl.obolibrary.org/obo/CL_1000454		
CL:1000453	biolink:Cell	epithelial cell of intermediate tubule	An epithelial cell that is part of the intermediate tubule.	FMA:70980	mondo.json		http://purl.obolibrary.org/obo/CL_1000453		
HGNC:9865	biolink:NamedThing	RARB			mondo.json		http://identifiers.org/hgnc/9865		
GO:0001819	biolink:NamedThing	positive regulation of cytokine production	Any process that activates or increases the frequency, rate or extent of production of a cytokine.		mondo.json	upregulation of cytokine production|positive regulation of cytokine biosynthetic process|up-regulation of cytokine production|positive regulation of cytokine secretion|up regulation of cytokine production|activation of cytokine production|stimulation of cytokine production	http://purl.obolibrary.org/obo/GO_0001819		
HGNC:7208	biolink:NamedThing	MPDZ			mondo.json		http://identifiers.org/hgnc/7208		
HGNC:14951	biolink:NamedThing	PPP1R15B			mondo.json		http://identifiers.org/hgnc/14951		
CL:1000450	biolink:Cell	epithelial cell of glomerular capsule	An epithelial cell that is part of the glomerular capsule.	FMA:70966|KUPO:0001034	mondo.json	Bowmans capsule epithelial cell|epithelial cell of Bowman's capsule	http://purl.obolibrary.org/obo/CL_1000450		
HGNC:7207	biolink:NamedThing	MPDU1			mondo.json		http://identifiers.org/hgnc/7207		
GO:0001816	biolink:NamedThing	cytokine production	The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels.		mondo.json	interferon secretion|cytokine secretion|interleukin production|cytokine metabolic process|interleukin secretion|cytokine biosynthetic process|interferon production	http://purl.obolibrary.org/obo/GO_0001816		
HGNC:26929	biolink:NamedThing	CDIN1			mondo.json		http://identifiers.org/hgnc/26929		
GO:0001817	biolink:NamedThing	regulation of cytokine production	Any process that modulates the frequency, rate, or extent of production of a cytokine.		mondo.json	regulation of cytokine biosynthesis|regulation of cytokine anabolism|regulation of cytokine synthesis|regulation of cytokine formation|regulation of cytokine biosynthetic process|regulation of cytokine secretion	http://purl.obolibrary.org/obo/GO_0001817		
GO:0001818	biolink:NamedThing	negative regulation of cytokine production	Any process that stops, prevents, or reduces the rate of production of a cytokine.		mondo.json	down regulation of cytokine production|negative regulation of cytokine secretion|inhibition of cytokine biosynthetic process|downregulation of cytokine biosynthetic process|inhibition of cytokine production|downregulation of cytokine production|negative regulation of cytokine biosynthetic process|negative regulation of cytokine anabolism|negative regulation of cytokine biosynthesis|negative regulation of cytokine synthesis|down-regulation of cytokine biosynthetic process|down-regulation of cytokine production|down regulation of cytokine biosynthetic process|negative regulation of cytokine formation	http://purl.obolibrary.org/obo/GO_0001818		
HGNC:26927	biolink:NamedThing	FOXRED1			mondo.json		http://identifiers.org/hgnc/26927		
GO:0001811	biolink:NamedThing	negative regulation of type I hypersensitivity	Any process that stops, prevents, or reduces the rate of type I hypersensitivity, a type of inflammatory response.		mondo.json	down regulation of type I hypersensitivity|inhibition of type I hypersensitivity|downregulation of type I hypersensitivity|down-regulation of type I hypersensitivity	http://purl.obolibrary.org/obo/GO_0001811		
HGNC:9863	biolink:NamedThing	RAPSN			mondo.json		http://identifiers.org/hgnc/9863		
GO:0001812	biolink:NamedThing	positive regulation of type I hypersensitivity	Any process that activates or increases the frequency, rate or extent of type I hypersensitivity, a type of inflammatory response.		mondo.json	upregulation of type I hypersensitivity|up-regulation of type I hypersensitivity|up regulation of type I hypersensitivity|activation of type I hypersensitivity|stimulation of type I hypersensitivity	http://purl.obolibrary.org/obo/GO_0001812		
HGNC:9864	biolink:NamedThing	RARA			mondo.json		http://identifiers.org/hgnc/9864		
HGNC:26944	biolink:NamedThing	TMEM138			mondo.json		http://identifiers.org/hgnc/26944		
CHEBI:50523	biolink:ChemicalSubstance	butenolide	A gamma-lactone that consists of a 2-furanone skeleton and its substituted derivatives.		mondo.json	furan-2-one|2-furanone|butenolides	http://purl.obolibrary.org/obo/CHEBI_50523		
MONDO:0003711	biolink:Disease	obsolete malignant peripheral nerve sheath tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003711		
MONDO:0003712	biolink:Disease	angiokeratoma of mibelli		NCIT:C3927|SCTID:62727008|DOID:5948|UMLS:C0263640	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003712	NCIT:C3927|DOID:5948|http://identifiers.org/snomedct/62727008|UMLS:C0263640	
GO:0001820	biolink:NamedThing	serotonin secretion	The regulated release of serotonin by a cell. Serotonin (5-hydroxytryptamine, or 5-HT) is a monoamine synthesised in serotonergic neurons in the central nervous system, enterochromaffin cells in the gastrointestinal tract and some immune system cells.		mondo.json	5-HT secretion|serotonin release|5-hydroxytryptamine secretion	http://purl.obolibrary.org/obo/GO_0001820		
MONDO:0003713	biolink:Disease	angiokeratoma circumscriptum		DOID:5949|SCTID:21848000|UMLS:C0263638|NCIT:C7751	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003713	http://identifiers.org/snomedct/21848000|DOID:5949|UMLS:C0263638|NCIT:C7751	
GO:0001821	biolink:NamedThing	histamine secretion	The regulated release of histamine by a cell or tissue. It is formed by decarboxylation of histidine and it acts through receptors in smooth muscle and in secretory systems.		mondo.json		http://purl.obolibrary.org/obo/GO_0001821		
MONDO:0003714	biolink:Disease	bladder urachal squamous cell carcinoma		UMLS:C1511206|NCIT:C39845|DOID:5957	mondo.json	bladder urachal squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003714	NCIT:C39845|DOID:5957|UMLS:C1511206	
MONDO:0003710	biolink:Disease	ovarian mixed germ cell neoplasm	An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell components. At least one of the germ cell components is primitive. The most common combination of germ cell elements is dysgerminoma and yolk sac tumor.	DOID:5936|ONCOTREE:OMGCT|UMLS:C0280135|NCIT:C8114	mondo.json	ovary mixed germ cell tumor|mixed germ cell tumor|mixed germ cell tumor of ovary|mixed germ cell tumor of the ovary|mixed germ cell neoplasm of the ovary|mixed germ cell neoplasm of ovary|ovarian mixed germ cell neoplasm|ovarian mixed germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0003710	NCIT:C8114|DOID:5936|UMLS:C0280135	
CL:1000449	biolink:Cell	epithelial cell of nephron	An epithelial cell that is part of the nephron.	FMA:70965	mondo.json		http://purl.obolibrary.org/obo/CL_1000449		
HP:0032368	biolink:PhenotypicFeature	Acidemia	An abnormally low blood pH (usually defined as less than 7.35).		mondo.json		http://purl.obolibrary.org/obo/HP_0032368		
CHEBI:25585	biolink:ChemicalSubstance	nonmetal atom			mondo.json	nonmetal|nonmetals|Nichtmetall|non-metaux|no metal|non-metal|no metales|nonmetal|Nichtmetalle	http://purl.obolibrary.org/obo/CHEBI_25585		
CL:1000448	biolink:Cell	epithelial cell of sweat gland	An epithelial cell that is part of the sweat gland.	FMA:70952	mondo.json		http://purl.obolibrary.org/obo/CL_1000448		
CL:1000447	biolink:Cell	epithelial cell of stratum germinativum of esophagus	A basal cell that is part of the epithelium of esophagus.	FMA:70731	mondo.json	basal cell of esophageal epithelium	http://purl.obolibrary.org/obo/CL_1000447		
CL:1000444	biolink:Cell	mesothelial cell of anterior chamber of eye	A mesothelial cell that is part of the anterior chamber of eyeball.	FMA:70615	mondo.json		http://purl.obolibrary.org/obo/CL_1000444		
HGNC:12303	biolink:NamedThing	TRIO			mondo.json		http://identifiers.org/hgnc/12303		
HGNC:14966	biolink:NamedThing	PXDN			mondo.json		http://identifiers.org/hgnc/14966		
CL:1000443	biolink:Cell	ciliary muscle cell	A smooth muscle cell that is part of the ciliary body.	FMA:70610	mondo.json	smooth muscle cell of ciliary body	http://purl.obolibrary.org/obo/CL_1000443		
HGNC:9879	biolink:NamedThing	RASGRP2			mondo.json		http://identifiers.org/hgnc/9879		
CL:1000442	biolink:Cell	urothelial cell of trigone of urinary bladder	An urothelial cell that is part of the trigone of urinary bladder.	FMA:70598	mondo.json	epithelial cell of vesical trigone	http://purl.obolibrary.org/obo/CL_1000442		
HGNC:7217	biolink:NamedThing	MPL			mondo.json		http://identifiers.org/hgnc/7217		
HGNC:7216	biolink:NamedThing	MPI			mondo.json		http://identifiers.org/hgnc/7216		
HGNC:7218	biolink:NamedThing	MPO			mondo.json		http://identifiers.org/hgnc/7218		
HGNC:14963	biolink:NamedThing	GPR101			mondo.json		http://identifiers.org/hgnc/14963		
HGNC:12305	biolink:NamedThing	TRIP11			mondo.json		http://identifiers.org/hgnc/12305		
MONDO:0003708	biolink:Disease	extrahepatic bile duct small cell adenocarcinoma	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. It is characterized by the presence of malignant small cells.	UMLS:C1335979|DOID:5926|NCIT:C5845	mondo.json	Oat cell carcinoma of the extrahepatic bile duct|extrahepatic bile duct small cell neuroendocrine carcinoma|Oat cell extrahepatic bile duct carcinoma|small cell extrahepatic bile duct carcinoma|extrahepatic bile duct small cell NEC|small cell adenocarcinoma of extrahepatic bile duct|small cell adenocarcinoma of the extrahepatic bile duct|small cell extrahepatic bile duct neuroendocrine carcinoma|Oat cell carcinoma of extrahepatic bile duct	http://purl.obolibrary.org/obo/MONDO_0003708	NCIT:C5845|UMLS:C1335979|DOID:5926	
HGNC:9870	biolink:NamedThing	RARS1			mondo.json		http://identifiers.org/hgnc/9870		
MONDO:0003709	biolink:Disease	agoraphobia	An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop.	SCTID:70691001|NCIT:C34362|DOID:593|EFO:1001872|ICD10CM:F40.0|MESH:D000379	mondo.json	fear of open spaces (finding)|fear of open spaces	http://purl.obolibrary.org/obo/MONDO_0003709	http://purl.bioontology.org/ontology/ICD10CM/F40.0|http://identifiers.org/snomedct/70691001|NCIT:C34362|DOID:593|http://identifiers.org/mesh/D000379	
HGNC:9871	biolink:NamedThing	RASA1			mondo.json		http://identifiers.org/hgnc/9871		
HGNC:26938	biolink:NamedThing	HIKESHI			mondo.json		http://identifiers.org/hgnc/26938		
MONDO:0003704	biolink:Disease	uterine corpus diffuse leiomyomatosis	An unusual condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body of the uterus.	DOID:5917|DOID:5916|UMLS:C1519855|NCIT:C40170	mondo.json	body of uterus leiomyomatosis|leiomyomatosis of body of uterus|uterine corpus leiomyomatosis|uterine corpus diffuse leiomyomatosis	http://purl.obolibrary.org/obo/MONDO_0003704	UMLS:C1519855|NCIT:C40170|DOID:5917|DOID:5916	
MONDO:0003705	biolink:Disease	adult brainstem mixed glioma		DOID:5921|UMLS:C1377915|NCIT:C9371	mondo.json	adult brain stem mixed glioma|adult brainstem mixed glioma	http://purl.obolibrary.org/obo/MONDO_0003705	UMLS:C1377915|NCIT:C9371|DOID:5921	
MONDO:0003706	biolink:Disease	adult brainstem astrocytoma		NCIT:C6954|UMLS:C1332191|DOID:5922	mondo.json	adult brainstem astrocytoma|adult brain stem astrocytoma	http://purl.obolibrary.org/obo/MONDO_0003706	NCIT:C6954|UMLS:C1332191|DOID:5922	
MONDO:0003707	biolink:Disease	distal biliary tract carcinoma	A carcinoma that arises from the common bile duct distal to the insertion of the cystic duct.	UMLS:C1333308|DOID:5923|NCIT:C7109	mondo.json	distal biliary tract carcinoma|carcinoma of the distal biliary tract|distal bile duct carcinoma|carcinoma of distal biliary tract|extrahepatic (distal) bile duct cancer|distal bile duct cancer	http://purl.obolibrary.org/obo/MONDO_0003707	UMLS:C1333308|DOID:5923|NCIT:C7109	
CHEBI:25555	biolink:ChemicalSubstance	nitrogen atom			mondo.json	nitrogen|Stickstoff|N|nitrogen|azote|7N|nitrogeno	http://purl.obolibrary.org/obo/CHEBI_25555		
CHEBI:50511	biolink:ChemicalSubstance	bipyridines	Compounds containing a bipyridine group.		mondo.json	bipyridyls	http://purl.obolibrary.org/obo/CHEBI_50511		
HP:0007370	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the corpus callosum	Absence or underdevelopment of the corpus callosum.	UMLS:C1861866	mondo.json	Complete or partial absence of the corpus callosum|Hypoplasia or absence of the corpus callosum|Absent/hypoplastic corpus callosum|Agenesis/hypoplastic corpus callosum|Hypoplastic or absent corpus callosum	http://purl.obolibrary.org/obo/HP_0007370		
NCBITaxon:59140	biolink:OrganismalEntity	Myzomyia		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_59140		
NCBITaxon:59142	biolink:OrganismalEntity	funestus group		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_59142		
CHEBI:25558	biolink:ChemicalSubstance	organonitrogen heterocyclic antibiotic			mondo.json	organonitrogen heterocyclic antibiotics	http://purl.obolibrary.org/obo/CHEBI_25558		
CHEBI:50514	biolink:ChemicalSubstance	vasoconstrictor agent	Drug used to cause constriction of the blood vessels.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_50514		
UBERON:0036553	biolink:AnatomicalEntity	wall of synovial tendon sheath			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036553		
CL:1000479	biolink:Cell	Purkinje myocyte of atrioventricular node	A Purkinje myocyte that is part of the atrioventricular node.	FMA:83386	mondo.json		http://purl.obolibrary.org/obo/CL_1000479		
CL:1000478	biolink:Cell	transitional myocyte of sinoatrial node	A transitional myocyte that is part of the sinoatrial node.	FMA:83384	mondo.json	transitinal myocyte of sinuatrial node	http://purl.obolibrary.org/obo/CL_1000478		
HGNC:7225	biolink:NamedThing	MPZ			mondo.json		http://identifiers.org/hgnc/7225		
HP:0007369	biolink:PhenotypicFeature	Atrophy/Degeneration affecting the cerebrum	The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain.	UMLS:C4024898	mondo.json		http://purl.obolibrary.org/obo/HP_0007369		
HGNC:9882	biolink:NamedThing	RASSF1			mondo.json		http://identifiers.org/hgnc/9882		
HP:0007367	biolink:PhenotypicFeature	Atrophy/Degeneration affecting the central nervous system		UMLS:C4024899	mondo.json	Atrophy/Degeneration affecting the CNS	http://purl.obolibrary.org/obo/HP_0007367		
ENVO:00000447	biolink:NamedThing	marine biome	An aquatic biome which is determined by a marine water body.		mondo.json	marine realm	http://purl.obolibrary.org/obo/ENVO_00000447		
NCBITaxon:11161	biolink:OrganismalEntity				mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_11161		
ENVO:00000446	biolink:NamedThing	terrestrial biome	A biome which is  primarily or completely situated on a landmass.		mondo.json	terrestrial realm	http://purl.obolibrary.org/obo/ENVO_00000446		
HGNC:7224	biolink:NamedThing	MPV17			mondo.json		http://identifiers.org/hgnc/7224		
HP:0007364	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the cerebrum		UMLS:C4024902	mondo.json	Absent/small cerebrum|Absent/underdeveloped cerebrum	http://purl.obolibrary.org/obo/HP_0007364		
HGNC:9884	biolink:NamedThing	RB1			mondo.json		http://identifiers.org/hgnc/9884		
HGNC:26922	biolink:NamedThing	ERCC6L2			mondo.json		http://identifiers.org/hgnc/26922		
HGNC:26926	biolink:NamedThing	JAGN1			mondo.json		http://identifiers.org/hgnc/26926		
OBO:mondo#disease_responds_to	biolink:NamedThing	disease responds to			mondo.json		http://purl.obolibrary.org/obo/mondo#disease_responds_to		
HGNC:14938	biolink:NamedThing	PIGT			mondo.json		http://identifiers.org/hgnc/14938		
CL:1000467	biolink:Cell	chromaffin cell of left ovary	A chromaffin cell that is part of the left ovary.	FMA:74321	mondo.json		http://purl.obolibrary.org/obo/CL_1000467		
CL:1000466	biolink:Cell	chromaffin cell of right ovary	A chromaffin cell that is part of the right ovary.	FMA:74320	mondo.json		http://purl.obolibrary.org/obo/CL_1000466		
CL:1000465	biolink:Cell	chromaffin cell of ovary	A chromaffin cell that is part of the ovary.	FMA:74319	mondo.json		http://purl.obolibrary.org/obo/CL_1000465		
GO:0001808	biolink:NamedThing	negative regulation of type IV hypersensitivity	Any process that stops, prevents, or reduces the rate of type IV hypersensitivity, a type of inflammatory response.		mondo.json	downregulation of type IV hypersensitivity|down regulation of type IV hypersensitivity|inhibition of type IV hypersensitivity|down-regulation of type IV hypersensitivity	http://purl.obolibrary.org/obo/GO_0001808		
GO:0001809	biolink:NamedThing	positive regulation of type IV hypersensitivity	Any process that activates or increases the frequency, rate or extent of type IV hypersensitivity, a type of inflammatory response.		mondo.json	activation of type IV hypersensitivity|up-regulation of type IV hypersensitivity|upregulation of type IV hypersensitivity|up regulation of type IV hypersensitivity|stimulation of type IV hypersensitivity	http://purl.obolibrary.org/obo/GO_0001809		
GO:0001804	biolink:NamedThing	negative regulation of type III hypersensitivity	Any process that stops, prevents, or reduces the rate of type III hypersensitivity, a type of inflammatory response.		mondo.json	down-regulation of type III hypersensitivity|down regulation of type III hypersensitivity|inhibition of type III hypersensitivity|downregulation of type III hypersensitivity	http://purl.obolibrary.org/obo/GO_0001804		
GO:0001805	biolink:NamedThing	positive regulation of type III hypersensitivity	Any process that activates or increases the frequency, rate or extent of type III hypersensitivity, a type of inflammatory response.		mondo.json	stimulation of type III hypersensitivity|upregulation of type III hypersensitivity|up-regulation of type III hypersensitivity|up regulation of type III hypersensitivity|activation of type III hypersensitivity	http://purl.obolibrary.org/obo/GO_0001805		
HP:0007378	biolink:PhenotypicFeature	Neoplasm of the gastrointestinal tract	A tumor (abnormal growth of tissue) of the gastrointestinal tract.	MSH:D005770|NCIT:C3262|UMLS:C0017185|SNOMEDCT_US:126768004	mondo.json	Gastrointestinal tract tumor|Gastrointestinal tract neoplasm|Gastrointestinal tract neoplasia|GI tract tumor|Neoplasm of the GI tract|Gastrointestinal tract tumour|GI tract tumour	http://purl.obolibrary.org/obo/HP_0007378		
GO:0001806	biolink:NamedThing	type IV hypersensitivity	An inflammatory response driven by T cell recognition of processed soluble or cell-associated antigens leading to cytokine release and leukocyte activation.		mondo.json	delayed hypersensitivity response|delayed-type hypersensitivity	http://purl.obolibrary.org/obo/GO_0001806		
GO:0001807	biolink:NamedThing	regulation of type IV hypersensitivity	Any process that modulates the frequency, rate, or extent of type IV hypersensitivity, a type of inflammatory response.		mondo.json		http://purl.obolibrary.org/obo/GO_0001807		
HGNC:7230	biolink:NamedThing	MRE11			mondo.json		http://identifiers.org/hgnc/7230		
HGNC:9891	biolink:NamedThing	RBBP8			mondo.json		http://identifiers.org/hgnc/9891		
HGNC:9896	biolink:NamedThing	RBM10			mondo.json		http://identifiers.org/hgnc/9896		
HP:0007373	biolink:PhenotypicFeature	Motor neuron atrophy	Wasting involving the motor neuron.	UMLS:C4024896	mondo.json	Motor neuron degeneration	http://purl.obolibrary.org/obo/HP_0007373		
GO:0001802	biolink:NamedThing	type III hypersensitivity	An inflammatory response resulting from recognition of immune complexes via complement or Fc receptors on effector cells leading to activation of neutrophils and other leukocytes and damage to bystander tissue.		mondo.json		http://purl.obolibrary.org/obo/GO_0001802		
NCBITaxon:11176	biolink:OrganismalEntity				mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_11176		
GO:0001803	biolink:NamedThing	regulation of type III hypersensitivity	Any process that modulates the frequency, rate, or extent of type III hypersensitivity, a type of inflammatory response.		mondo.json		http://purl.obolibrary.org/obo/GO_0001803		
HP:0007375	biolink:PhenotypicFeature	Abnormality of the septum pellucidum	An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain.	UMLS:C4024894	mondo.json		http://purl.obolibrary.org/obo/HP_0007375		
MONDO:0003744	biolink:Disease	spindle cell intraocular melanoma	A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of spindle-shaped melanocytes.	NCIT:C7986|UMLS:C0279687|DOID:6037	mondo.json	spindle cell uveal melanoma|uveal spindle cell melanoma|spindle cell melanoma of uvea|spindle cell melanoma of the uvea	http://purl.obolibrary.org/obo/MONDO_0003744	UMLS:C0279687|NCIT:C7986|DOID:6037	
NCBITaxon:1224	biolink:OrganismalEntity	Proteobacteria		PMID:29458499|PMID:11542017|PMID:26654112|PMID:11321122|PMID:11837318|GC_ID:11	mondo.json	proteobacteria|purple bacteria|purple non-sulfur bacteria|Proteobacteriota|purple bacteria and relatives|Alphaproteobacteriota|Alphaproteobacteraeota|purple photosynthetic bacteria|purple photosynthetic bacteria and relatives	http://purl.obolibrary.org/obo/NCBITaxon_1224		
MONDO:0003745	biolink:Disease	choroid spindle cell melanoma	A spindle cell melanoma that involves the optic choroid.	DOID:6041|UMLS:C1333027|NCIT:C6099	mondo.json	spindle cell melanoma of the choroid|optic choroid spindle cell melanoma|spindle cell melanoma of choroid|spindle cell melanoma of optic choroid	http://purl.obolibrary.org/obo/MONDO_0003745	UMLS:C1333027|DOID:6041|NCIT:C6099	
MONDO:0003746	biolink:Disease	ciliary body spindle cell melanoma	A spindle cell melanoma that involves the ciliary body.	NCIT:C6117|UMLS:C1333052|DOID:6043	mondo.json	spindle cell melanoma of the ciliary body|ciliary body spindle cell melanoma|spindle cell melanoma of ciliary body	http://purl.obolibrary.org/obo/MONDO_0003746	DOID:6043|UMLS:C1333052|NCIT:C6117	
MONDO:0003747	biolink:Disease	telangiectatic glomangioma	A glomus tumor characterized by huge vascular channel formations.	NCIT:C5345|UMLS:C1336699|DOID:6048	mondo.json	telangiectatic glomangioma	http://purl.obolibrary.org/obo/MONDO_0003747	DOID:6048|NCIT:C5345|UMLS:C1336699	
MONDO:0003740	biolink:Disease	AIDS phobia	An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome.	EFO:1001873|UMLS:C0853870|DOID:603|NCIT:C35614	mondo.json	AIDS phobia	http://purl.obolibrary.org/obo/MONDO_0003740	NCIT:C35614|DOID:603|UMLS:C0853870	
MONDO:0003741	biolink:Disease	juvenile type testicular granulosa cell tumor	A rare sex cord-stromal tumor that arises from the testis. It is the most frequent congenital testicular neoplasm and is usually diagnosed during the perinatal period. It usually presents as an asymptomatic scrotal or abdominal mass. Morphologically it is characterized by the presence of cysts that are lined by cells resembling granulosa and theca cells.	UMLS:C0334403|DOID:6032|UMLS:C1515285|NCIT:C39947	mondo.json	juvenile type granulosa cell tumor|juvenile granulosa cell tumour|juvenile granulosa cell tumor (morphologic abnormality)|juvenile granulosa cell tumor|juvenile type granulosa cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0003741	NCIT:C39947|UMLS:C0334403|DOID:6032|UMLS:C1515285	
MONDO:0003742	biolink:Disease	heart fibrosarcoma	A usually aggressive malignant neoplasm arising from the heart. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	UMLS:C1332844|NCIT:C5361|DOID:6033	mondo.json	heart fibrosarcoma|cardiac fibrosarcoma|fibrosarcoma of the heart|Cardiac fibrosarcoma|heart fibrosarcoma (disease)|fibrosarcoma of heart	http://purl.obolibrary.org/obo/MONDO_0003742	UMLS:C1332844|NCIT:C5361|DOID:6033	
MONDO:0003743	biolink:Disease	heart malignant hemangiopericytoma	A malignant hemangiopericytoma arising in the heart.	NCIT:C5365|DOID:6034|UMLS:C1334567	mondo.json	heart spindle cell tumor|malignant Cardiac hemangiopericytoma|malignant hemangiopericytoma of heart|heart hemangiopericytoma|malignant heart hemangiopericytoma|malignant hemangiopericytoma of the heart	http://purl.obolibrary.org/obo/MONDO_0003743	NCIT:C5365|DOID:6034|UMLS:C1334567	
CL:1000418	biolink:Cell	myoepithelial cell of lactiferous alveolus	A myoepithelial cell that is part of the mammary gland alveolus.	FMA:67802	mondo.json	basal cell of alveolus of lactiferous gland|myoepithelial cell of mammary alveolus	http://purl.obolibrary.org/obo/CL_1000418		
MONDO:0015729	biolink:Disease	mosaic trisomy 16	Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay.	SCTID:764621006|MESH:C538041|Orphanet:1708	mondo.json	Mosaic trisomy type 16|trisomy 16 mosaicism|Mosaic trisomy chromosome 16	http://purl.obolibrary.org/obo/MONDO_0015729	http://identifiers.org/mesh/C538041|Orphanet:1708|http://identifiers.org/snomedct/764621006	ordo_malformation_syndrome
MONDO:0015728	biolink:Disease	distal trisomy 15q		Orphanet:1707|MESH:C538036	mondo.json	trisomy 15qter|distal duplication 15q|telomeric duplication 15q|distal trisomy type 15q	http://purl.obolibrary.org/obo/MONDO_0015728	http://identifiers.org/mesh/C538036|Orphanet:1707	ordo_etiological_subtype
CL:1000417	biolink:Cell	myoepithelial cell of sweat gland	A myoepithelial cell that is part of the sweat gland.	FMA:67801	mondo.json		http://purl.obolibrary.org/obo/CL_1000417		
MONDO:0015727	biolink:Disease	mosaic trisomy 15	Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.	SCTID:764619001|UMLS:CN035788|GARD:0005313|MESH:C538037|Orphanet:1706	mondo.json	chromosome 15, trisomy mosaicism|Mosaic trisomy type 15|trisomy 15 mosaicism|Mosaic trisomy chromosome 15	http://purl.obolibrary.org/obo/MONDO_0015727	UMLS:CN035788|http://identifiers.org/mesh/C538037|Orphanet:1706|http://identifiers.org/snomedct/764619001	ordo_malformation_syndrome
CL:1000416	biolink:Cell	obsolete myoepithelial cell of lactiferous gland	OBSOLETE. A myoepithelial cell that is part of the mammary gland.		mondo.json		http://purl.obolibrary.org/obo/CL_1000416		
CL:1000415	biolink:Cell	epithelial cell of gall bladder	An epithelial cell that is part of the gallbladder.	FMA:67780	mondo.json		http://purl.obolibrary.org/obo/CL_1000415		
CL:1000414	biolink:Cell	endothelial cell of venule	An endothelial cell that is part of the venule.	FMA:67762	mondo.json		http://purl.obolibrary.org/obo/CL_1000414		
CL:1000413	biolink:Cell	endothelial cell of artery	A blood vessel endothelial cell that is part of an arterial endothelium.	KUPO:0001095|BTO:0004758|FMA:67761	mondo.json	arterial endothelial cell	http://purl.obolibrary.org/obo/CL_1000413		
HGNC:14906	biolink:NamedThing	NIN			mondo.json		http://identifiers.org/hgnc/14906		
CL:1000412	biolink:Cell	endothelial cell of arteriole	An endothelial cell that is part of the arteriole.	KUPO:0001097|FMA:67760	mondo.json		http://purl.obolibrary.org/obo/CL_1000412		
CL:0002188	biolink:Cell	glomerular endothelial cell	An endothelial cell found in the glomerulus of the kidney. This cell is flattened, highly fenestrated, and plays a vital role in the formation of glomerular ultrafiltrate.	FMA:70970|BTO:0004632	mondo.json		http://purl.obolibrary.org/obo/CL_0002188		
MONDO:0015733	biolink:Disease	low anorectal malformation	Low anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis). Patients may present with failure to pass meconium, failure to thrive, and chronic constipation.	SCTID:253772005|NCIT:C98975|Orphanet:171215|UMLS:C0345218|ICD9:751.5	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015733	http://identifiers.org/snomedct/253772005|NCIT:C98975|Orphanet:171215|UMLS:C0345218	ordo_clinical_subtype
CL:1000410	biolink:Cell	myocyte of atrioventricular node	A muscle cell that is part of the atrioventricular node.	FMA:67106	mondo.json	atrioventricular node myocyte|atrioventricular node cell|AV node cardiac muscle cell|AV nodal myocyte|AV node cell	http://purl.obolibrary.org/obo/CL_1000410		
CL:0002187	biolink:Cell	basal cell of epidermis	A basally situated, mitotically active, columnar-shaped keratinocyte attached to the basement membrane.	FMA:70571	mondo.json		http://purl.obolibrary.org/obo/CL_0002187		
MONDO:0015732	biolink:Disease	intermediate anorectal malformation	Intermediate anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, rectobulbar fistula in the male, and anal agenesis). Patients may present with failure to pass meconium, failure to thrive, and recurrent urinary tract infections.	SCTID:734024009|Orphanet:171208	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015732	http://identifiers.org/snomedct/734024009|Orphanet:171208	ordo_clinical_subtype
MONDO:0015731	biolink:Disease	high anorectal malformation	High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence.	SCTID:253771003|Orphanet:171201|ICD9:751.5	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015731	http://identifiers.org/snomedct/253771003|Orphanet:171201	ordo_clinical_subtype
MONDO:0015730	biolink:Disease	mosaic trisomy 17	Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.	SCTID:764622004|GARD:0005317|UMLS:C1096168|NCIT:C37865|MESH:C538044|Orphanet:1711	mondo.json	chromosome 17, trisomy mosaicism|trisomy 17|chromosome 17 trisomy|chromosome 17, trisomy|Mosaic trisomy type 17|trisomy 17 mosaicism|Mosaic trisomy chromosome 17|chromosome 17 duplication	http://purl.obolibrary.org/obo/MONDO_0015730	UMLS:C1096168|Orphanet:1711|http://identifiers.org/snomedct/764622004|http://identifiers.org/mesh/C538044	ordo_malformation_syndrome
MONDO:0015737	biolink:Disease	typical nemaline myopathy	Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement.	GARD:0012822|Orphanet:171436	mondo.json	typical congenital nemaline myopathy	http://purl.obolibrary.org/obo/MONDO_0015737	Orphanet:171436	ordo_disease
MONDO:0015736	biolink:Disease	intermediate nemaline myopathy	Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression.	GARD:0012823|Orphanet:171433	mondo.json	Intermediate congenital nemaline myopathy|Intermediate congenital NM	http://purl.obolibrary.org/obo/MONDO_0015736	Orphanet:171433	ordo_disease
MONDO:0015735	biolink:Disease	severe congenital nemaline myopathy	Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates.	Orphanet:171430|GARD:0012821	mondo.json	severe congenital (neonatal) NM	http://purl.obolibrary.org/obo/MONDO_0015735	Orphanet:171430	clingen|ordo_disease|gard_rare
MONDO:0015734	biolink:Disease	rectal duplication	Rectal duplication is a rare congenital anorectal malformation characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly they present in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum.	Orphanet:171220|SCTID:725910009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015734	http://identifiers.org/snomedct/725910009|Orphanet:171220	ordo_morphological_anomaly
CL:0002180	biolink:Cell	mucous cell of stomach	A mucous cell in the epithelium of the stomach.	FMA:63464	mondo.json		http://purl.obolibrary.org/obo/CL_0002180		
ENVO:00000428	biolink:NamedThing	biome	A biome is an ecosystem to which resident ecological communities have evolved adaptations.		mondo.json	EcosytemType|major habitat type	http://purl.obolibrary.org/obo/ENVO_00000428		
MONDO:0003737	biolink:Disease	malignant testicular Leydig cell tumor	A Leydig cell tumor characterized by a large size, cellular atypia, high mitotic activity, vascular invasion and necrotic changes. The prognosis is usually poor.	NCIT:C39942|UMLS:C1515288|DOID:6021	mondo.json	testicular Leydig cell tumor, malignant	http://purl.obolibrary.org/obo/MONDO_0003737	NCIT:C39942|UMLS:C1515288	
MONDO:0003738	biolink:Disease	selective IgE deficiency disease	A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class E (IgE). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons appear asymptomatic but may show a predisposition to autoimmune and respiratory diseases.	SCTID:234540007|UMLS:C0398694|ICD9:279.03|NCIT:C27143|DOID:6024	mondo.json	selective immunoglobulin E deficiency|selective IgE immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0003738	DOID:6024|http://identifiers.org/snomedct/234540007|UMLS:C0398694|NCIT:C27143	
CL:0002183	biolink:Cell	stem cell of gastric gland	A stomach epithelial cell that is olumnar in form with a few short apical microvilli; relatively undifferentiated mitotic cell from which other types of gland are derived; few in number, situated in the isthmus region of the gland and base of the gastric pit.	FMA:62953	mondo.json		http://purl.obolibrary.org/obo/CL_0002183		
MONDO:0003739	biolink:Disease	selective immunoglobulin deficiency disease	A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity.	UMLS:C1335942|NCIT:C27870|DOID:6025	mondo.json	selective Immunoglobulin isotype deficiency	http://purl.obolibrary.org/obo/MONDO_0003739	UMLS:C1335942|DOID:6025|NCIT:C27870	
MONDO:0003755	biolink:Disease	urinary tract non-invasive transitional cell neoplasm		NCIT:C39854|DOID:6065|UMLS:C1518361	mondo.json	non-invasive urothelial neoplasm|non-invasive transitional cell neoplasm of the urinary tract	http://purl.obolibrary.org/obo/MONDO_0003755	UMLS:C1518361|NCIT:C39854|DOID:6065	
NCBITaxon:1236	biolink:OrganismalEntity	Gammaproteobacteria		PMID:23334881|GC_ID:11	mondo.json	gamma subdivision|gamma proteobacteria|g-proteobacteria|Proteobacteria gamma subdivision|gamma subgroup|Purple bacteria, gamma subdivision	http://purl.obolibrary.org/obo/NCBITaxon_1236		
MONDO:0003756	biolink:Disease	ovarian mucinous neoplasm	A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract.	NCIT:C5242|DOID:6067|UMLS:C1335168	mondo.json	mucinous tumor of ovary|malignant ovarian mucinous neoplasm|mucinous neoplasm of the ovary|mucinous neoplasm of ovary|mucinous tumor of the ovary|ovarian mucinous neoplasm|ovarian mucinous tumor	http://purl.obolibrary.org/obo/MONDO_0003756	NCIT:C5242|UMLS:C1335168|DOID:6067	
MONDO:0003757	biolink:Disease	paraplegia	Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord.	NCIT:C50687|SCTID:60389000|DOID:607|UMLS:C0030486|GARD:0007327|MESH:D010264|ICD9:344.1	mondo.json	paraplegia, lower|severe or complete loss of motor function in the lower extremities and lower portions of the trunk	http://purl.obolibrary.org/obo/MONDO_0003757	UMLS:C0030486|DOID:607|http://identifiers.org/snomedct/60389000|NCIT:C50687|http://identifiers.org/mesh/D010264	gard_rare
MONDO:0003758	biolink:Disease	childhood testicular germ cell tumor	A germ cell tumor that arises from the testis during childhood.	DOID:6082|UMLS:C0796663|NCIT:C6552	mondo.json	pediatric testicular germ cell tumor|childhood testicular germ cell tumor|testicular germ cell tumor of childhood|childhood testicular germ cell neoplasm|testicular germ cell tumor|pediatric testicular germ cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0003758	UMLS:C0796663|NCIT:C6552|DOID:6082	
MONDO:0003751	biolink:Disease	childhood germ cell tumor	A germ cell tumor that occurs during childhood.	UMLS:C0279014|NCIT:C7928|DOID:6053	mondo.json	childhood germ cell tumor|germ cell tumor|pediatric germ cell tumor|pediatric germ cell cancer|childhood germ cell neoplasm|pediatric germ cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0003751	NCIT:C7928|UMLS:C0279014|DOID:6053	
MONDO:0003752	biolink:Disease	frontal sinus Schneiderian papilloma	A papilloma that arises from the ciliated respiratory mucosa that lines the frontal sinus. It is classified as inverted papilloma and oncocytic papilloma.	UMLS:C1333645|DOID:6054|NCIT:C6837	mondo.json	frontal sinus Schneiderian papilloma|Schneiderian papilloma of frontal sinus|Schneiderian papilloma of the frontal sinus	http://purl.obolibrary.org/obo/MONDO_0003752	NCIT:C6837|DOID:6054|UMLS:C1333645	
MONDO:0003753	biolink:Disease	nasal vestibule squamous papilloma	A benign exophytic squamous cell neoplasm with papillary growth that arises from the nasal vestibule.	ICD9:478.19|UMLS:C0339826|DOID:6059|SCTID:232364006|NCIT:C4369	mondo.json	nasal vestibule squamous papilloma|squamous papilloma of nasal vestibule|nasal vestibule papilloma|squamous papilloma of the nasal vestibule|papilloma of the nasal vestibule|papilloma of nasal vestibule	http://purl.obolibrary.org/obo/MONDO_0003753	UMLS:C0339826|http://identifiers.org/snomedct/232364006|NCIT:C4369|DOID:6059	
CL:1000409	biolink:Cell	myocyte of sinoatrial node	A muscle cell that is part of the sinoatrial node.	FMA:67102	mondo.json	SA nodal myocyte|myocyte of sinoatrial node|SA node cardiac muscle cell|sinoatrial node myocyte|sinoatrial node cell|sinuatrial node myocyte	http://purl.obolibrary.org/obo/CL_1000409		
MONDO:0003754	biolink:Disease	Brown-Sequard syndrome	Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases (tuberculosis or multiple sclerosis), and disk herniation. Treatment for this condition varies depending on the underlying cause.	SCTID:27982003|DOID:606|EFO:1001279|GARD:0005964|ICD10CM:G83.81|MESH:D018437|NCIT:C84601	mondo.json	Hemicord syndrome|Hemispinal cord syndrome|Hemiparaplegic syndrome|Brown-Squard syndrome	http://purl.obolibrary.org/obo/MONDO_0003754	http://purl.bioontology.org/ontology/ICD10CM/G83.81|DOID:606|http://identifiers.org/mesh/D018437|NCIT:C84601|http://identifiers.org/snomedct/27982003	gard_rare
HGNC:26901	biolink:NamedThing	OTOGL			mondo.json		http://identifiers.org/hgnc/26901		
MONDO:0015719	biolink:Disease	severe hemophilia A	Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.	UMLS:C0272322|Orphanet:169802|SCTID:16872008	mondo.json	severe factor VIII deficiency|severe hemophilia type A	http://purl.obolibrary.org/obo/MONDO_0015719	Orphanet:169802|UMLS:C0272322|http://identifiers.org/snomedct/16872008	ordo_clinical_subtype
MONDO:0015718	biolink:Disease	mosaic trisomy 12	Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported.	SCTID:764463001|Orphanet:1698|UMLS:CN073989|GARD:0005304	mondo.json	Mosaic trisomy type 12|trisomy 12 mosaicism|Mosaic trisomy chromosome 12	http://purl.obolibrary.org/obo/MONDO_0015718	http://identifiers.org/snomedct/764463001|Orphanet:1698|UMLS:CN073989	ordo_malformation_syndrome|gard_rare
MONDO:0015717	biolink:Disease	mild hemophilia B	Mild hemophilia B is a form of hemophilia B characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.	UMLS:CN200229|Orphanet:169799	mondo.json	mild factor IX deficiency|mild hemophilia type B	http://purl.obolibrary.org/obo/MONDO_0015717	Orphanet:169799|UMLS:CN200229	ordo_clinical_subtype
MONDO:0015716	biolink:Disease	moderately severe hemophilia B	Moderately severe hemophilia B is a form of hemophilia B characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.	UMLS:CN200228|Orphanet:169796	mondo.json	moderately severe factor IX deficiency|moderately severe hemophilia type B	http://purl.obolibrary.org/obo/MONDO_0015716	Orphanet:169796|UMLS:CN200228	ordo_clinical_subtype
MONDO:0003750	biolink:Disease	childhood central nervous system germ cell tumor	A germ cell tumor of the central nervous system occurring in children.	NCIT:C6205|UMLS:C0278754|DOID:6052	mondo.json	childhood germ cell neoplasm of CNS|pediatric germ cell tumor of the CNS|pediatric germ cell tumor of central nervous system|childhood CNS germ cell tumor|childhood central nervous system germ cell tumor|pediatric germ cell tumor of CNS|childhood germ cell neoplasm of central nervous system|pediatric CNS germ cell neoplasm|pediatric germ cell tumor of the central nervous system|childhood germ cell neoplasm of the central nervous system|central nervous system germ cell tumor|pediatric central nervous system germ cell neoplasm|pediatric germ cell neoplasm of CNS|central nervous system childhood germ cell tumor|pediatric central nervous system germ cell tumor|childhood germ cell tumor of central nervous system|pediatric germ cell neoplasm of the CNS|childhood germ cell tumor of the CNS|pediatric germ cell neoplasm of central nervous system|childhood germ cell tumor of the central nervous system|childhood germ cell tumor of CNS|pediatric CNS germ cell tumor|pediatric germ cell neoplasm of the central nervous system|childhood CNS germ cell neoplasm|childhood central nervous system germ cell neoplasm|central nervous system pediatric germ cell cancer|childhood germ cell neoplasm of the CNS	http://purl.obolibrary.org/obo/MONDO_0003750	UMLS:C0278754|NCIT:C6205|DOID:6052	
CL:1000405	biolink:Cell	epithelial cell of appendix	An epithelial cell that is part of the appendix.	FMA:63602	mondo.json	epithelial cell of vermiform appendix|columnar epitheliocyte of appendix	http://purl.obolibrary.org/obo/CL_1000405		
NCBITaxon:1239	biolink:OrganismalEntity	Firmicutes		PMID:29458499|PMID:11542017|PMID:10555317|PMID:26654112|PMID:25403554|PMID:11034484|GC_ID:11|PMID:15143038	mondo.json	Bacillaeota|firmicutes|Low G+C firmicutes|Bacillus/Clostridium group|Firmacutes|low G+C Gram-positive bacteria|Clostridium group firmicutes|Firmicutes corrig. Gibbons and Murray 1978|Bacillota|clostridial firmicutes|low GC Gram+	http://purl.obolibrary.org/obo/NCBITaxon_1239		
MONDO:0015722	biolink:Disease	congenital vitamin K-dependent coagulation factors deficiency	Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors.	Orphanet:169826|OMIMPS:277450	mondo.json	vitamin K-dependent clotting factors, combined deficiency of|congenital vitamin K-dependent coagulation factors combined deficiency	http://purl.obolibrary.org/obo/MONDO_0015722	https://omim.org/phenotypicSeries/PS277450|Orphanet:169826	disease_grouping|ordo_group_of_disorders
CL:0002199	biolink:Cell	oxyphil cell of parathyroid gland	An oncocyte located in the parathyroid gland.	FMA:69084	mondo.json		http://purl.obolibrary.org/obo/CL_0002199		
MONDO:0015721	biolink:Disease	mild hemophilia A	Mild hemophilia A is a form of hemophilia A characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.	SCTID:26029002|UMLS:C0272324|Orphanet:169808	mondo.json	mild factor VIII deficiency|mild hemophilia type A	http://purl.obolibrary.org/obo/MONDO_0015721	Orphanet:169808|http://identifiers.org/snomedct/26029002|UMLS:C0272324	ordo_clinical_subtype
CL:0002198	biolink:Cell	oncocyte	A large epithelial cell with an extremely acidophilic and granular cytoplasm, containing vast numbers of mitochondria; such cells may undergo neoplastic transformation. From the Greek word onkos meaning swelling, this cell type is found in parathyroid, salivary and thyroid glands.	FMA:67606	mondo.json	oxyphil	http://purl.obolibrary.org/obo/CL_0002198		
MONDO:0015720	biolink:Disease	moderately severe hemophilia A	Moderately severe hemophilia A is a form of hemophilia A characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.	UMLS:CN200231|Orphanet:169805	mondo.json	moderately severe factor VIII deficiency|moderately severe hemophilia type A	http://purl.obolibrary.org/obo/MONDO_0015720	UMLS:CN200231|Orphanet:169805	ordo_clinical_subtype
MONDO:0015726	biolink:Disease	distal trisomy 14q		UMLS:CN036934|MESH:C538034|Orphanet:1705	mondo.json	trisomy 14qter|distal duplication 14q|telomeric duplication 14q|distal trisomy type 14q	http://purl.obolibrary.org/obo/MONDO_0015726	http://identifiers.org/mesh/C538034|Orphanet:1705|UMLS:CN036934	ordo_malformation_syndrome
CHEBI:37527	biolink:ChemicalSubstance	acid	An acid is a molecular entity capable of donating a hydron (Bronsted acid) or capable of forming a covalent bond with an electron pair (Lewis acid).		mondo.json	Acid|acid|acido|Saeure|Saeuren|acide|acids	http://purl.obolibrary.org/obo/CHEBI_37527		
MONDO:0015725	biolink:Disease	mosaic trisomy 14	Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction ; failure to to thrive ; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual.	Orphanet:1703|GARD:0001327|MESH:C535489|UMLS:C2930917|SCTID:764466009|NCIT:C116319	mondo.json	Mosaic trisomy type 14|trisomy 14 mosaicism|Mosaic trisomy chromosome 14	http://purl.obolibrary.org/obo/MONDO_0015725	UMLS:C2930917|NCIT:C116319|Orphanet:1703|http://identifiers.org/mesh/C535489|http://identifiers.org/snomedct/764466009	ordo_malformation_syndrome|gard_rare
MONDO:0015724	biolink:Disease	non-distal trisomy 13q	Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.	Orphanet:1702|SCTID:764996009	mondo.json	non-distal duplication 13q|non-distal trisomy type 13q|non-telomeric trisomy 13q	http://purl.obolibrary.org/obo/MONDO_0015724	Orphanet:1702|http://identifiers.org/snomedct/764996009	ordo_malformation_syndrome
MONDO:0015723	biolink:Disease	trisomy 12p	Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities.	Orphanet:1699|UMLS:C0795845|GARD:0005305|MESH:C538299	mondo.json	12p duplication|chromosome 12p duplication|partial trisomy 12p|12p trisomy|Duplication 12p|trisomy type 12p	http://purl.obolibrary.org/obo/MONDO_0015723	http://identifiers.org/mesh/C538299|UMLS:C0795845|Orphanet:1699	ordo_malformation_syndrome
HGNC:14921	biolink:NamedThing	TAS2R16			mondo.json		http://identifiers.org/hgnc/14921		
CL:0002191	biolink:Cell	granulocytopoietic cell	A cell involved in the formation of a granulocyte.	FMA:83519	mondo.json		http://purl.obolibrary.org/obo/CL_0002191		
CL:0002195	biolink:Cell	hepatic stem cell	A stem cell that can give rise to the cells of the liver.	FMA:86577	mondo.json		http://purl.obolibrary.org/obo/CL_0002195		
MONDO:0003748	biolink:Disease	flying phobia	An overwhelming, irrational, and persistent fear of traveling in an aircraft.	DOID:605|NCIT:C35413|EFO:1001889	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003748	NCIT:C35413|DOID:605	
MONDO:0003749	biolink:Disease	esophageal disorder	A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas.	SCTID:30811009|DOID:6050|MESH:D004935|ICD9:530|SCTID:37657006|NCIT:C3027|ICD9:530.2|UMLS:C0014852|ICD9:530.20|ICD9:530.9	mondo.json	esophageal disorder|disease of esophagus|esophagus disease or disorder|disorder of esophagus|esophageal ulcer|esophagus disease|disease or disorder of esophagus	http://purl.obolibrary.org/obo/MONDO_0003749	http://identifiers.org/mesh/D004935|DOID:6050|UMLS:C0014852|http://identifiers.org/snomedct/30811009|http://identifiers.org/snomedct/37657006|NCIT:C3027	
CL:0002194	biolink:Cell	monopoietic cell	A cell involved in the formation of a monocyte (monopoiesis).	FMA:83552	mondo.json		http://purl.obolibrary.org/obo/CL_0002194		
MONDO:0003722	biolink:Disease	internal auditory canal meningioma	A meningioma that affects the internal auditory canal.	NCIT:C5307|UMLS:C1334227|DOID:5990	mondo.json	meningioma (disease) of internal acoustic meatus|meningioma of the internal auditory canal|meningioma of internal auditory canal|internal acoustic meatus meningioma (disease)	http://purl.obolibrary.org/obo/MONDO_0003722	UMLS:C1334227|DOID:5990|NCIT:C5307	
CHEBI:25512	biolink:ChemicalSubstance	neurotransmitter	An endogenous compound that is used to transmit information across the synapse between a neuron and another cell.		mondo.json	neurotransmitters	http://purl.obolibrary.org/obo/CHEBI_25512		
MONDO:0003723	biolink:Disease	blunt duct adenosis of breast	Breast adenosis characterized by the presence of ducts with distended lumen and columnar cell metaplasia.	NCIT:C6941|DOID:5996|UMLS:C1332573	mondo.json	blunt duct adenosis of the breast|breast blunt duct adenosis	http://purl.obolibrary.org/obo/MONDO_0003723	UMLS:C1332573|DOID:5996|NCIT:C6941	
MONDO:0003724	biolink:Disease	non-proliferative fibrocystic change of the breast	Breast fibrocystic change characterized by the absence of epithelial cell hyperplasia.	UMLS:C1332628|DOID:5997|NCIT:C6943	mondo.json	non-proliferative fibrocystic change of breast|breast fibrocystic change, non-proliferative type|non-proliferative fibrocystic change	http://purl.obolibrary.org/obo/MONDO_0003724	UMLS:C1332628|DOID:5997|NCIT:C6943	
MONDO:0003725	biolink:Disease	breast adenosis	A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules. It may be associated with apocrine changes or sclerosis.	EFO:0006891|NCIT:C3484|UMLS:C0085750|DOID:5998|MESH:D005348	mondo.json	breast adenosis|adenosis|adenosis - breast|adenosis of breast|adenosis of the breast|microglandular adenosis	http://purl.obolibrary.org/obo/MONDO_0003725	NCIT:C3484|UMLS:C0085750|DOID:5998	
GO:0050801	biolink:NamedThing	ion homeostasis	Any process involved in the maintenance of an internal steady state of ions within an organism or cell.		mondo.json	electrolyte homeostasis|regulation of ion homeostasis|negative regulation of crystal formation	http://purl.obolibrary.org/obo/GO_0050801		
MONDO:0003720	biolink:Disease	kidney fibrosarcoma	A usually aggressive malignant neoplasm arising from the kidney. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	NCIT:C7726|DOID:5982|UMLS:C0238208	mondo.json	renal fibrosarcoma|kidney fibrosarcoma (disease)|fibrosarcoma of kidney|kidney fibrosarcoma|fibrosarcoma of the kidney	http://purl.obolibrary.org/obo/MONDO_0003720	UMLS:C0238208|DOID:5982|NCIT:C7726	
MONDO:0003721	biolink:Disease	kidney osteogenic sarcoma	An osteosarcoma arising from the kidney.	UMLS:C1335747|DOID:5983|NCIT:C6181	mondo.json	kidney osteosarcoma (disease)|osteosarcoma of kidney|kidney osteosarcoma|osteosarcoma of the kidney|renal extraskeletal osteosarcoma|renal osteogenic sarcoma|osteogenic sarcoma of kidney|osteogenic sarcoma of the kidney|kidney osteogenic sarcoma|kidney extraskeletal osteosarcoma|renal osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0003721	UMLS:C1335747|DOID:5983|NCIT:C6181	
CHEBI:25513	biolink:ChemicalSubstance	neutral glycosphingolipid	Any glycosphingolipid containing unsubstituted glycosyl moieties.		mondo.json	neutral glycosphingolipids	http://purl.obolibrary.org/obo/CHEBI_25513		
MONDO:0015708	biolink:Disease	immuno-osseous dysplasia		Orphanet:169349|SCTID:254067002	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015708	Orphanet:169349|http://identifiers.org/snomedct/254067002	disease_grouping|ordo_group_of_disorders
GO:0050804	biolink:NamedThing	modulation of chemical synaptic transmission	Any process that modulates the frequency or amplitude of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse.  Amplitude, in this case, refers to the change in postsynaptic membrane potential due to a single instance of synaptic transmission.		mondo.json	regulation of chemical synaptic transmission|modulation of synaptic transmission|regulation of synaptic transmission	http://purl.obolibrary.org/obo/GO_0050804		
MONDO:0015707	biolink:Disease	obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies		Orphanet:169346	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015707	Orphanet:169346	
GO:0050805	biolink:NamedThing	negative regulation of synaptic transmission	Any process that stops, prevents, or reduces the frequency, rate or extent of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse.		mondo.json	down-regulation of synaptic transmission|down regulation of synaptic transmission|inhibition of synaptic transmission|downregulation of synaptic transmission	http://purl.obolibrary.org/obo/GO_0050805		
MONDO:0015706	biolink:Disease	mosaic trisomy 1		Orphanet:1692|UMLS:CN073987	mondo.json	Mosaic trisomy type 1|trisomy 1 mosaicism|Mosaic trisomy chromosome 1	http://purl.obolibrary.org/obo/MONDO_0015706	Orphanet:1692|UMLS:CN073987	ordo_malformation_syndrome
GO:0050802	biolink:NamedThing	circadian sleep/wake cycle, sleep	The part of the circadian sleep/wake cycle where the organism is asleep.		mondo.json		http://purl.obolibrary.org/obo/GO_0050802		
MONDO:0015705	biolink:Disease	autosomal recessive centronuclear myopathy	Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.	GARD:0012718|SCTID:240081004|Orphanet:169186|UMLS:C3645536|DOID:0111216	mondo.json	AR-CNM|centronuclear myopathy, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0015705	DOID:0111216|http://identifiers.org/snomedct/240081004|UMLS:C3645536|Orphanet:169186	ordo_disease
CL:1000437	biolink:Cell	epithelial cell of nasolacrimal duct	An epithelial cell that is part of the nasolacrimal duct.	FMA:70561	mondo.json		http://purl.obolibrary.org/obo/CL_1000437		
CL:1000436	biolink:Cell	epithelial cell of lacrimal sac	An epithelial cell that is part of the lacrimal sac.	FMA:70560	mondo.json		http://purl.obolibrary.org/obo/CL_1000436		
GO:0050806	biolink:NamedThing	positive regulation of synaptic transmission	Any process that activates or increases the frequency, rate or extent of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse.		mondo.json	up regulation of synaptic transmission|activation of synaptic transmission|stimulation of synaptic transmission|upregulation of synaptic transmission|up-regulation of synaptic transmission	http://purl.obolibrary.org/obo/GO_0050806		
CL:1000435	biolink:Cell	epithelial cell of lacrimal duct	An epithelial cell that is part of the lacrimal duct.	FMA:70559	mondo.json		http://purl.obolibrary.org/obo/CL_1000435		
CL:1000434	biolink:Cell	epithelial cell of external acoustic meatus	An epithelial cell that is part of the external acoustic meatus.	FMA:70555	mondo.json		http://purl.obolibrary.org/obo/CL_1000434		
MONDO:0015709	biolink:Disease	obsolete immunodeficiency syndrome with autoimmunity		UMLS:CN200213|Orphanet:169355	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015709	Orphanet:169355|UMLS:CN200213	ordo_group_of_disorders
MONDO:0015711	biolink:Disease	obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells		Orphanet:169443	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015711	Orphanet:169443	ordo_group_of_disorders
CL:0002166	biolink:Cell	epithelial cell of Malassez	An epithelial cell that remains from the disintegration of the epithelial root sheath involved in the development of teeth.	FMA:62987	mondo.json	epithelial cell rests of Malassez|epithelial debris of Malassez	http://purl.obolibrary.org/obo/CL_0002166		
CL:1000433	biolink:Cell	epithelial cell of lacrimal canaliculus	An epithelial cell that is part of the lacrimal canaliculus.	FMA:70553	mondo.json		http://purl.obolibrary.org/obo/CL_1000433		
MONDO:0015710	biolink:Disease	obsolete immune dysregulation disease with immunodeficiency		UMLS:CN200214|Orphanet:169361	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015710	UMLS:CN200214|Orphanet:169361	ordo_group_of_disorders
CL:1000432	biolink:Cell	conjunctival epithelial cell	An epithelial cell that is part of the conjunctiva.	FMA:70552	mondo.json	epithelial cell of conjunctiva	http://purl.obolibrary.org/obo/CL_1000432		
CL:0002167	biolink:Cell	olfactory epithelial cell	A specialized cell involved in sensory perception of smell.	FMA:67870	mondo.json		http://purl.obolibrary.org/obo/CL_0002167		
OIO:shorthand	biolink:NamedThing	shorthand			mondo.json		http://www.geneontology.org/formats/oboInOwl#shorthand		
MONDO:0015715	biolink:Disease	severe hemophilia B	Severe hemophilia B is a form of hemophilia B characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.	UMLS:CN200227|Orphanet:169793	mondo.json	severe factor IX deficiency|severe hemophilia type B	http://purl.obolibrary.org/obo/MONDO_0015715	UMLS:CN200227|Orphanet:169793	ordo_clinical_subtype
CL:0002169	biolink:Cell	basal cell of olfactory epithelium	An epithelial cell located on the basal lamina of the olfactory epithelium.	FMA:62303	mondo.json	horizontal basal call	http://purl.obolibrary.org/obo/CL_0002169		
MONDO:0015714	biolink:Disease	secondary central precocious puberty		Orphanet:169618|UMLS:CN200226	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015714	UMLS:CN200226|Orphanet:169618	ordo_etiological_subtype
MONDO:0015713	biolink:Disease	idiopathic central precocious puberty		UMLS:C0342544|Orphanet:169615|ICD9:259.1|NCIT:C120372|SCTID:237817008	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015713	http://identifiers.org/snomedct/237817008|NCIT:C120372|UMLS:C0342544|Orphanet:169615	ordo_etiological_subtype
MONDO:0015712	biolink:Disease	non-distal trisomy 10q	Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.	Orphanet:1695	mondo.json	non-telomeric trisomy 10q|non-distal duplication 10q|non-distal trisomy type 10q	http://purl.obolibrary.org/obo/MONDO_0015712	Orphanet:1695	ordo_malformation_syndrome
MONDO:0003719	biolink:Disease	renal pelvis neoplasm	A neoplasm (disease) that involves the renal pelvis.	SCTID:126881002|ICD9:239.5|NCIT:C8404|DOID:5977|UMLS:C0346260	mondo.json	renal pelvis neoplasm (disease)|renal pelvis neoplasm|neoplasm of the renal pelvis|neoplasm of the kidney pelvis|neoplasm of kidney pelvis|neoplasm of renal pelvis|kidney pelvis tumor|renal pelvis tumor|tumor of the renal pelvis|kidney pelvis neoplasm|tumor of kidney pelvis|tumor of the kidney pelvis|tumor of renal pelvis	http://purl.obolibrary.org/obo/MONDO_0003719	http://identifiers.org/snomedct/126881002|UMLS:C0346260|DOID:5977|NCIT:C8404	
MONDO:0003715	biolink:Disease	bladder urachal carcinoma	Urachal cancer is a type of bladder cancer, making up less than 1% of all bladder cancers. The urachus is a structure normally only present during development in the womb that connects the bellybutton and the bladder. This connection normally disappears before birth, but in some people remains. Urachalcancers are usually diagnosed in adults in their 50's and 60's and may develop at the dome or anterior wall of the bladder, along the midline of the body (including the belly button), and between the pubis symphasis and the bladder.Most urachal cancersare adenocarcinomas (cancers that develop from gland cells).Others may besarcomas (which develop from connective tissue -such as leiomyosarcoma, rhabdomyosarcoma, and malignant fibrous histiocytoma), small cell carcinomas, transitional cell cancer, and mixed neoplasias. Most individuals with urachal cancer have symptoms of with hematuria (blood in urine). Other symptoms may include abdominal pain, a palpable abdominal mass, mucinuria, and bacteriuria. Treatment usually involved surgery to remove the cancer.	MESH:C536475|UMLS:C1511205|ONCOTREE:URCA|DOID:5958|NCIT:C39842|GARD:0007836	mondo.json	urachal carcinoma|bladder urachal cancer|bladder urachal carcinoma	http://purl.obolibrary.org/obo/MONDO_0003715	NCIT:C39842|http://identifiers.org/mesh/C536475|DOID:5958	gard_rare
MONDO:0003716	biolink:Disease	renal pelvis papillary urothelial carcinoma	A papillary transitional cell carcinoma that arises from the renal pelvis.	NCIT:C6148|DOID:5973|UMLS:C1377909	mondo.json	renal pelvis papillary carcinoma|kidney pelvis papillary carcinoma|papillary carcinoma of the renal pelvis|papillary carcinoma of the kidney pelvis|papillary carcinoma of kidney pelvis|papillary carcinoma of renal pelvis|renal pelvis papillary urothelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0003716	UMLS:C1377909|DOID:5973|NCIT:C6148	
MONDO:0003717	biolink:Disease	renal pelvis papillary tumor	A papillary tumor originating in the renal pelvis.	NCIT:C8603|UMLS:C0853688|DOID:5975	mondo.json	papillary neoplasm of the renal pelvis|renal pelvis papillary urothelial neoplasm|renal pelvis papillary tumor|papillary tumor of renal pelvis|papillary tumor of the renal pelvis|papillary neoplasm of renal pelvis	http://purl.obolibrary.org/obo/MONDO_0003717	UMLS:C0853688|DOID:5975|NCIT:C8603	
MONDO:0003718	biolink:Disease	occlusion precerebral artery		ICD9:433.3|UMLS:C0265090|ICD9:433.81|SCTID:28790007|ICD9:433|ICD9:433.80|DOID:5976|ICD9:433.9	mondo.json	occlusion and stenosis of precerebral artery|occlusion and stenosis of multiple and bilateral precerebral arteries	http://purl.obolibrary.org/obo/MONDO_0003718	http://identifiers.org/snomedct/28790007|UMLS:C0265090|DOID:5976	
MONDO:0003733	biolink:Disease	central nervous system mature teratoma	A teratoma composed exclusively of fully differentiated, 'adult-type' tissue elements that are sometimes arranged in a pattern resembling normal tissue relationships. Mitotic activity is low or absent. The more common ectodermal components present in a mature teratoma include skin, brain and choroid plexus. The more common mesodermal components include cartilage, bone, fat and muscle (both smooth and striated). And the most common endodermal components are cysts lined by epithelia of respiratory or enteric type and in some cases pancreatic or hepatic tissue. (Adapted from WHO)	NCIT:C7013|UMLS:C1332886|ONCOTREE:BMT|DOID:6017	mondo.json	mature teratoma of CNS|mature teratoma of central nervous system|mature teratoma of the central nervous system|central nervous system mature teratoma|mature teratoma of the CNS|CNS mature teratoma|mature teratoma	http://purl.obolibrary.org/obo/MONDO_0003733	DOID:6017|UMLS:C1332886|NCIT:C7013	
MONDO:0003734	biolink:Disease	adult central nervous system immature teratoma		UMLS:C1332193|DOID:6018|NCIT:C27401	mondo.json	adult central nervous system immature teratoma	http://purl.obolibrary.org/obo/MONDO_0003734	DOID:6018|UMLS:C1332193|NCIT:C27401	
MONDO:0003735	biolink:Disease	central nervous system immature teratoma	A variant of teratoma composed of incompletely differentiated components resembling fetal tissues. Even if the immature component is only a minor element of an otherwise differentiated teratoma, the tumor is still classified as immature. (Adapted from WHO)	NCIT:C7014|DOID:6019|UMLS:C1332883|ONCOTREE:BIMT	mondo.json	immature teratoma of central nervous system|immature teratoma|immature teratoma of the central nervous system|immature teratoma of the CNS|immature teratoma of CNS|central nervous system immature teratoma|CNS immature teratoma	http://purl.obolibrary.org/obo/MONDO_0003735	DOID:6019|UMLS:C1332883|NCIT:C7014	
MONDO:0003736	biolink:Disease	cancerophobia	An overwhelming, irrational, and persistent fear of being diagnosed with cancer.	NCIT:C35492|DOID:602|EFO:1001879	mondo.json	fear of getting cancer|Cancerphobia|cancer phobia|fear of getting cancer (finding)	http://purl.obolibrary.org/obo/MONDO_0003736	NCIT:C35492|DOID:602	
MONDO:0003730	biolink:Disease	aleukemic leukemia	A leukemia characterized by the absence of leukemic cells in the peripheral blood.	SCTID:302856006|UMLS:C0877858|DOID:12965|ICD9:208.80|NCIT:C4982|DOID:6004	mondo.json	aleukemic myelosis|subleukemic leukemia|aleukemic leukemia	http://purl.obolibrary.org/obo/MONDO_0003730	http://identifiers.org/snomedct/302856006|DOID:12965|UMLS:C0877858|DOID:6004|NCIT:C4982	
MONDO:0003731	biolink:Disease	adult central nervous system teratoma	A mature or immature teratoma affecting the central nervous system and occurring in adults.	UMLS:C1370506|DOID:6015|NCIT:C5794	mondo.json	central nervous system teratoma of adults|Central nervous system teratoma|teratoma of adult central nervous system|adult central nervous system teratoma|teratoma of the adult central nervous system|adult CNS teratoma|teratoma of the adult CNS|teratoma of adult CNS	http://purl.obolibrary.org/obo/MONDO_0003731	DOID:6015|UMLS:C1370506|NCIT:C5794	
MONDO:0003732	biolink:Disease	adult central nervous system mature teratoma	A central nervous system mature teratoma that occurs in an adult.	DOID:6016|UMLS:C1332194|NCIT:C27400	mondo.json	adult central nervous system mature teratoma|central nervous system mature teratoma of adults	http://purl.obolibrary.org/obo/MONDO_0003732	DOID:6016|UMLS:C1332194|NCIT:C27400	
GO:0050810	biolink:NamedThing	regulation of steroid biosynthetic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus.		mondo.json	regulation of steroid synthesis|regulation of steroid formation|regulation of steroid biosynthesis|regulation of steroidogenesis|regulation of steroid anabolism	http://purl.obolibrary.org/obo/GO_0050810		
NCBITaxon:181550	biolink:OrganismalEntity	Trichomonadidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_181550		
CL:1000428	biolink:Cell	stem cell of epidermis	A somatic stem cell that is part of the epidermis.	FMA:70541	mondo.json	epidermal stem cell	http://purl.obolibrary.org/obo/CL_1000428		
UBERON:0036521	biolink:AnatomicalEntity	wall of urethra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036521		
CL:1000427	biolink:Cell	adrenal cortex chromaffin cell	A chromaffin cell that is part of the adrenal cortex.	FMA:69795	mondo.json	chromaffin cell of adrenal cortex	http://purl.obolibrary.org/obo/CL_1000427		
CL:1000426	biolink:Cell	chromaffin cell of adrenal gland	A chromaffin cell that is part of the adrenal gland.	FMA:69794	mondo.json	adrenal chromaffin cell	http://purl.obolibrary.org/obo/CL_1000426		
GO:0050819	biolink:NamedThing	negative regulation of coagulation	Any process that stops, prevents, or reduces the frequency, rate or extent of coagulation.		mondo.json	anticoagulant activity|down-regulation of coagulation|down regulation of coagulation|negative regulation of clotting|inhibition of coagulation|downregulation of coagulation	http://purl.obolibrary.org/obo/GO_0050819		
UBERON:0036523	biolink:AnatomicalEntity	wall of vagina			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036523		
GO:0050817	biolink:NamedThing	coagulation	The process in which a fluid solution, or part of it, changes into a solid or semisolid mass.		mondo.json	clotting	http://purl.obolibrary.org/obo/GO_0050817		
GO:0050818	biolink:NamedThing	regulation of coagulation	Any process that modulates the frequency, rate or extent of coagulation, the process in which a fluid solution, or part of it, changes into a solid or semisolid mass.		mondo.json	regulation of clotting	http://purl.obolibrary.org/obo/GO_0050818		
MONDO:0015700	biolink:Disease	immunodeficiency due to a late component of complement deficiency	A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection.	Orphanet:169150	mondo.json	immunodeficiency due to C5 to C9 component complement deficiency|immunodeficiency due to a C5 to C9 component complement deficiency|deficiency of complement of terminal pathway|terminal complement pathway deficiency	http://purl.obolibrary.org/obo/MONDO_0015700	Orphanet:169150	ordo_disease
CL:0002177	biolink:Cell	folliculostellate cell of pars distalis of adenohypophysis	A supporting cell of the anterior pituitary gland involved in trophic and catabolic processes; expresses a broad spectrum of cytokeratins indicative of their epithelial nature.	FMA:83102	mondo.json	folliculostellate cell of pars anterior of adenohypophysis	http://purl.obolibrary.org/obo/CL_0002177		
CL:0002178	biolink:Cell	epithelial cell of stomach	An epithelial cell found in the lining of the stomach.	FMA:62948	mondo.json		http://purl.obolibrary.org/obo/CL_0002178		
MONDO:0015704	biolink:Disease	familial scaphocephaly syndrome		Orphanet:169163|MedDRA:10072229	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015704	Orphanet:169163	ordo_group_of_disorders|disease_grouping
MONDO:0015703	biolink:Disease	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		Orphanet:169160	mondo.json	T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta	http://purl.obolibrary.org/obo/MONDO_0015703	Orphanet:169160	clingen|ordo_disease
MONDO:0015702	biolink:Disease	T-B+ severe combined immunodeficiency due to CD45 deficiency		OMIM:608971|UMLS:C1837028|DOID:0060014|Orphanet:169157	mondo.json	T-B+ SCID due to CD45 deficiency|CD45 deficiency	http://purl.obolibrary.org/obo/MONDO_0015702	DOID:0060014|Orphanet:169157	ordo_disease
MONDO:0015701	biolink:Disease	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.	UMLS:C1837028|DOID:0060015|OMIM:608971|Orphanet:169154	mondo.json	T-B+ SCID due to IL-7Ralpha deficiency|IL-7R|interleukin-7 receptor alpha deficiency|IL-7Ralpha deficiency	http://purl.obolibrary.org/obo/MONDO_0015701	DOID:0060015|Orphanet:169154	ordo_disease
CL:0002170	biolink:Cell	keratinized cell of the oral mucosa	A keratinized cell located in the hard palate or gingiva.		mondo.json		http://purl.obolibrary.org/obo/CL_0002170		
MONDO:0003726	biolink:Disease	apocrine adenosis of breast	Breast adenosis characterized by the presence of extensive apocrine metaplasia.	NCIT:C5198|DOID:5999|UMLS:C1332314	mondo.json	breast apocrine adenosis|apocrine adenosis of the breast|apocrine adenosis of breast	http://purl.obolibrary.org/obo/MONDO_0003726	UMLS:C1332314|DOID:5999|NCIT:C5198	
MONDO:0003727	biolink:Disease	animal phobia	An overwhelming, irrational, and persistent fear of animals.	EFO:1001876|NCIT:C35273|DOID:600	mondo.json	fear of animals (finding)|zoophobia (finding)|fear of animals|zoophobia	http://purl.obolibrary.org/obo/MONDO_0003727	NCIT:C35273|DOID:600	
MONDO:0003728	biolink:Disease	breast fibrosarcoma	A usually aggressive malignant neoplasm arising from the breast. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	UMLS:C1332630|DOID:6001|NCIT:C5185	mondo.json	fibrosarcoma of the breast|breast fibrosarcoma (disease)|fibrosarcoma of breast|breast fibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0003728	DOID:6001|UMLS:C1332630|NCIT:C5185	
MONDO:0003729	biolink:Disease	aleukemic leukemia cutis	Infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. It results in clinically identifiable skin lesions. It may be the first manifestation of acute leukemia, preceding the involvement of the bone marrow and peripheral blood by the leukemic process.	DOID:6003|GARD:0006892|UMLS:C0887846|NCIT:C4983	mondo.json	aleukemic leukemia cutis|leukemia subleukemic	http://purl.obolibrary.org/obo/MONDO_0003729	DOID:6003|NCIT:C4983|UMLS:C0887846	
CL:0002174	biolink:Cell	follicular cell of ovary	A cell within the follicle of an ovary.	EMAPA:31247|FMA:70589	mondo.json		http://purl.obolibrary.org/obo/CL_0002174		
ENVO:01000952	biolink:NamedThing	anthropisation	A process during which a natural environmental system is altered by human action.		mondo.json	anthropization	http://purl.obolibrary.org/obo/ENVO_01000952		
GO:0072175	biolink:NamedThing	epithelial tube formation	The developmental process pertaining to the initial formation of an epithelial tube.		mondo.json		http://purl.obolibrary.org/obo/GO_0072175		
ENVO:01000951	biolink:NamedThing	natural environment	An environmental system in which minimal to no anthropisation has occurred and non-human agents are the primary determinants of the system's dynamics and composition.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000951		
GO:0001894	biolink:NamedThing	tissue homeostasis	A homeostatic process involved in the maintenance of an internal steady state within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function.		mondo.json	tissue maintenance	http://purl.obolibrary.org/obo/GO_0001894		
ENVO:01000958	biolink:NamedThing	terrestrial planet	A planet that is composed primarily of silicate rocks or metals.		mondo.json	rocky planet|telluric planet|Earth-like planet	http://purl.obolibrary.org/obo/ENVO_01000958		
NCBITaxon:1279	biolink:OrganismalEntity	Staphylococcus		PMID:12656157|PMID:17220435|PMID:10758876|PMID:10319469|GC_ID:11|PMID:9734063|PMID:10319495|PMID:10425778	mondo.json	Aurococcus	http://purl.obolibrary.org/obo/NCBITaxon_1279		
HP:0010950	biolink:PhenotypicFeature	Abnormal fourth ventricle morphology	An abnormality of the fourth ventricle.	UMLS:C4023630	mondo.json	Abnormality of the fourth ventricle	http://purl.obolibrary.org/obo/HP_0010950		
HP:0007313	biolink:PhenotypicFeature	Cerebral degeneration		SNOMEDCT_US:52522001|UMLS:C0154671|SNOMEDCT_US:418143002	mondo.json	Neuroaxonal degeneration in the brain	http://purl.obolibrary.org/obo/HP_0007313		
NCBITaxon:1280	biolink:OrganismalEntity	Staphylococcus aureus		PMID:8573498|PMID:31023808|GC_ID:11	mondo.json	Micrococcus aureus|Staphlococcus pyogenes citreus|Staphylococcus pyogenes aureus|Micrococcus pyogenes|Staphylococcus aureus subsp. anaerobius	http://purl.obolibrary.org/obo/NCBITaxon_1280		
GO:0001870	biolink:NamedThing	positive regulation of complement activation, lectin pathway	Any process that activates or increases the frequency, rate or extent of complement activation by the lectin pathway.		mondo.json	up regulation of complement activation, lectin pathway|activation of complement activation, lectin pathway|positive regulation of complement cascade, lectin pathway|stimulation of complement activation, lectin pathway|upregulation of complement activation, lectin pathway|up-regulation of complement activation, lectin pathway	http://purl.obolibrary.org/obo/GO_0001870		
HGNC:9802	biolink:NamedThing	RAC2			mondo.json		http://identifiers.org/hgnc/9802		
GO:0098796	biolink:NamedThing	membrane protein complex	Any protein complex that is part of a membrane.		mondo.json		http://purl.obolibrary.org/obo/GO_0098796		
NCBITaxon:1257	biolink:OrganismalEntity	Peptostreptococcus		GC_ID:11|PMID:11491354	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1257		
GO:0098797	biolink:NamedThing	plasma membrane protein complex	Any protein complex that is part of the plasma membrane.		mondo.json		http://purl.obolibrary.org/obo/GO_0098797		
GO:0098794	biolink:NamedThing	postsynapse	The part of a synapse that is part of the post-synaptic cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0098794		
GO:0001887	biolink:NamedThing	selenium compound metabolic process	The chemical reactions and pathways involving compounds that contain selenium, such as selenocysteine.		mondo.json	selenium metabolic process|selenium compound metabolism|selenium metabolism	http://purl.obolibrary.org/obo/GO_0001887		
GO:0098793	biolink:NamedThing	presynapse	The part of a synapse that is part of the presynaptic cell.		mondo.json	presynaptic terminal	http://purl.obolibrary.org/obo/GO_0098793		
HP:0010936	biolink:PhenotypicFeature	Abnormality of the lower urinary tract	An abnormality of the lower urinary tract.	UMLS:C4023640	mondo.json		http://purl.obolibrary.org/obo/HP_0010936		
HP:0032309	biolink:PhenotypicFeature	Abnormal granulocyte count	Any deviation from the normal cell count per volume of granulocytes in the blood circulation.		mondo.json		http://purl.obolibrary.org/obo/HP_0032309		
HP:0010935	biolink:PhenotypicFeature	Abnormality of the upper urinary tract	An abnormality of the upper urinary tract.	UMLS:C4023641	mondo.json	Abnormality of the upper urinary tract	http://purl.obolibrary.org/obo/HP_0010935		
HGNC:9811	biolink:NamedThing	RAD21			mondo.json		http://identifiers.org/hgnc/9811		
HGNC:9816	biolink:NamedThing	RAD50			mondo.json		http://identifiers.org/hgnc/9816		
HP:0010932	biolink:PhenotypicFeature	Abnormal circulating nucleobase concentration	An abnormality of a nucleobase metabolic process.	UMLS:C4020762|UMLS:C4023643	mondo.json	Abnormal nucleoside levels	http://purl.obolibrary.org/obo/HP_0010932		
HGNC:9817	biolink:NamedThing	RAD51			mondo.json		http://identifiers.org/hgnc/9817		
HP:0010930	biolink:PhenotypicFeature	Abnormal blood monovalent inorganic cation concentration	An abnormality of monovalent inorganic cation homeostasis.	UMLS:C4023645	mondo.json	Abnormality of monovalent inorganic cation homeostasis	http://purl.obolibrary.org/obo/HP_0010930		
CHEBI:50584	biolink:ChemicalSubstance	alkyl alcohol	An aliphatic alcohol in which the aliphatic alkane chain is substituted by a hydroxy group at unspecified position.		mondo.json	hydroxyalkanes|hydroxyalkane|alkyl alcohols	http://purl.obolibrary.org/obo/CHEBI_50584		
GO:0098798	biolink:NamedThing	mitochondrial protein-containing complex	A protein complex that is part of a mitochondrion.		mondo.json	mitochondrial protein complex	http://purl.obolibrary.org/obo/GO_0098798		
HGNC:9823	biolink:NamedThing	RAD51D			mondo.json		http://identifiers.org/hgnc/9823		
HGNC:9826	biolink:NamedThing	RAD54L			mondo.json		http://identifiers.org/hgnc/9826		
HGNC:9820	biolink:NamedThing	RAD51C			mondo.json		http://identifiers.org/hgnc/9820		
HP:0007360	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the cerebellum		UMLS:C3279222	mondo.json	Absent/small cerebellum|Absent/underdeveloped cerebellum|Cerebellar hypoplasia/atrophy|Atrophy/Hypoplasia of the cerebellum|Atrophy/Degeneration affecting the cerebellum	http://purl.obolibrary.org/obo/HP_0007360		
HP:0010995	biolink:PhenotypicFeature	Abnormal circulating dicarboxylic acid concentration	Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation.	UMLS:C4023606	mondo.json		http://purl.obolibrary.org/obo/HP_0010995		
HP:0010993	biolink:PhenotypicFeature	Abnormality of the cerebral subcortex	An abnormality of the cerebral subcortex.	UMLS:C4021207	mondo.json	Abnormality of the cerebral medulla	http://purl.obolibrary.org/obo/HP_0010993		
HGNC:9829	biolink:NamedThing	RAF1			mondo.json		http://identifiers.org/hgnc/9829		
HP:0010990	biolink:PhenotypicFeature	Abnormality of the common coagulation pathway	An abnormality of blood coagulation, common pathway.	UMLS:C4023609	mondo.json		http://purl.obolibrary.org/obo/HP_0010990		
HGNC:9834	biolink:NamedThing	RAI1			mondo.json		http://identifiers.org/hgnc/9834		
UBERON:0012504	biolink:AnatomicalEntity	adventitia of esophagus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012504		
UBERON:0012503	biolink:AnatomicalEntity	serosa of fundus of stomach			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012503		
HGNC:9832	biolink:NamedThing	RAG2			mondo.json		http://identifiers.org/hgnc/9832		
HP:0007354	biolink:PhenotypicFeature	Amyotrophic lateral sclerosis		MSH:D000690|SNOMEDCT_US:86044005|UMLS:C0002736	mondo.json	Lou Gehrig's disease	http://purl.obolibrary.org/obo/HP_0007354		
GO:0001867	biolink:NamedThing	complement activation, lectin pathway	Any process involved in the activation of any of the steps of the lectin pathway of the complement cascade which allows for the direct killing of microbes and the regulation of other immune processes.		mondo.json	complement cascade, lectin pathway	http://purl.obolibrary.org/obo/GO_0001867		
HGNC:9831	biolink:NamedThing	RAG1			mondo.json		http://identifiers.org/hgnc/9831		
GO:0001868	biolink:NamedThing	regulation of complement activation, lectin pathway	Any process that modulates the frequency, rate or extent of the lectin pathway of complement activation.		mondo.json	regulation of complement cascade, lectin pathway	http://purl.obolibrary.org/obo/GO_0001868		
GO:0001869	biolink:NamedThing	negative regulation of complement activation, lectin pathway	Any process that stops, prevents, or reduces the rate of complement activation by the lectin pathway.		mondo.json	inhibition of complement activation, lectin pathway|downregulation of complement activation, lectin pathway|negative regulation of complement cascade, lectin pathway|down-regulation of complement activation, lectin pathway|down regulation of complement activation, lectin pathway	http://purl.obolibrary.org/obo/GO_0001869		
HP:0010980	biolink:PhenotypicFeature	Hyperlipoproteinemia	An abnormal increase in the level of lipoprotein cholesterol in the blood.	UMLS:C0020476|MSH:D006951|SNOMEDCT_US:3744001	mondo.json		http://purl.obolibrary.org/obo/HP_0010980		
CHEBI:37578	biolink:ChemicalSubstance	halide	Any heteroatomic molecular entity that is a chemical compound of halogen with other chemical elements.		mondo.json	halides	http://purl.obolibrary.org/obo/CHEBI_37578		
CHEBI:37577	biolink:ChemicalSubstance	heteroatomic molecular entity	A molecular entity consisting of two or more chemical elements.		mondo.json	chemical compound|heteroatomic molecular entities	http://purl.obolibrary.org/obo/CHEBI_37577		
HP:0010989	biolink:PhenotypicFeature	Abnormality of the intrinsic pathway	An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade.	UMLS:C4023610	mondo.json		http://purl.obolibrary.org/obo/HP_0010989		
HP:0010988	biolink:PhenotypicFeature	Abnormality of the extrinsic pathway	An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade.	UMLS:C4023611	mondo.json		http://purl.obolibrary.org/obo/HP_0010988		
HP:0010987	biolink:PhenotypicFeature	Abnormal cellular immune system morphology	An abnormality of the morphology or counts of the cells that make up the immune system.	UMLS:C4023612	mondo.json		http://purl.obolibrary.org/obo/HP_0010987		
HP:0010985	biolink:PhenotypicFeature	Gonosomal inheritance	A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes.	UMLS:C4023613	mondo.json		http://purl.obolibrary.org/obo/HP_0010985		
HGNC:9848	biolink:NamedThing	RANBP2			mondo.json		http://identifiers.org/hgnc/9848		
GO:0001838	biolink:NamedThing	embryonic epithelial tube formation	The morphogenesis of an embryonic epithelium into a tube-shaped structure.		mondo.json		http://purl.obolibrary.org/obo/GO_0001838		
GO:0001841	biolink:NamedThing	neural tube formation	The formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system.		mondo.json	neurulation|neural tube morphogenesis	http://purl.obolibrary.org/obo/GO_0001841		
GO:0001843	biolink:NamedThing	neural tube closure	The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline.		mondo.json		http://purl.obolibrary.org/obo/GO_0001843		
HP:0010972	biolink:PhenotypicFeature	Anemia of inadequate production	A kind of anemia characterized by inadequate production of erythrocytes.	UMLS:C0678199|SNOMEDCT_US:70730006|UMLS:C0392708	mondo.json	Dyserythropoietic anaemia|Dyserythropoietic anemia|Anemia, dyserythropoietic|Ineffective erythropoiesis|Defective erythropoiesis|Anaemia of inadequate production	http://purl.obolibrary.org/obo/HP_0010972		
HP:0010979	biolink:PhenotypicFeature	Abnormality of lipoprotein cholesterol concentration	An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood.	UMLS:C4023615	mondo.json	Abnormality of the level of lipoprotein cholesterol	http://purl.obolibrary.org/obo/HP_0010979		
HP:0010978	biolink:PhenotypicFeature	Abnormality of immune system physiology	A functional abnormality of the immune system.	UMLS:C4023616	mondo.json		http://purl.obolibrary.org/obo/HP_0010978		
HP:0010976	biolink:PhenotypicFeature	B lymphocytopenia	An abnormal decrease from the normal count of B cells.	UMLS:C1855067	mondo.json	Reduction in B cell number|B cell lymphopenia|B cell deficiency|Decreased B cell count|Low B cell count	http://purl.obolibrary.org/obo/HP_0010976		
HP:0010975	biolink:PhenotypicFeature	Abnormal B cell count	A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.	UMLS:C4021208	mondo.json	Abnormality of B cell numbers|Abnormal number of B cells|Abnormal numbers of B cells|Abnormality of B cell count	http://purl.obolibrary.org/obo/HP_0010975		
HP:0010974	biolink:PhenotypicFeature	Abnormal myeloid leukocyte morphology	An abnormality of myeloid leukocytes.	UMLS:C4023618	mondo.json	Abnormality of myeloid leukocytes	http://purl.obolibrary.org/obo/HP_0010974		
CHEBI:37581	biolink:ChemicalSubstance	gamma-lactone	A lactone having a five-membered lactone ring.		mondo.json	gamma-lactona|gamma-Laktone|gamma-lactonas|a 1,4-lactone|1,4-Lactone|gamma-lactones|butyrolactones|1,4-lactones	http://purl.obolibrary.org/obo/CHEBI_37581		
GO:0001848	biolink:NamedThing	complement binding	Binding to a component or product of the complement cascade.		mondo.json		http://purl.obolibrary.org/obo/GO_0001848		
GO:1990904	biolink:NamedThing	ribonucleoprotein complex	A macromolecular complex that contains both RNA and protein molecules.		mondo.json	RNA-protein complex|protein-RNA complex|extracellular ribonucleoprotein complex|RNP|intracellular ribonucleoprotein complex	http://purl.obolibrary.org/obo/GO_1990904		
GO:0050789	biolink:NamedThing	regulation of biological process	Any process that modulates the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule.		mondo.json	regulation of physiological process	http://purl.obolibrary.org/obo/GO_0050789		
MONDO:0013190	biolink:Disease	factor XIII, b subunit, deficiency of		MESH:C567688|OMIM:613235	mondo.json	factor XIII, b subunit, deficiency of|factor XIIIB deficiency	http://purl.obolibrary.org/obo/MONDO_0013190	https://omim.org/entry/613235|http://identifiers.org/mesh/C567688	
MONDO:0013191	biolink:Disease	focal segmental glomerulosclerosis 5	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene.	UMLS:C2750475|OMIM:613237|DOID:0111130|MESH:C567687	mondo.json	focal segmental glomerulosclerosis caused by mutation in INF2|glomerulosclerosis, focal segmental, 5|FSGS5|focal segmental glomerulosclerosis 5|focal segmental glomerulosclerosis type 5|INF2 focal segmental glomerulosclerosis	http://purl.obolibrary.org/obo/MONDO_0013191	https://omim.org/entry/613237|UMLS:C2750475|http://identifiers.org/mesh/C567687|DOID:0111130	
GO:1904951	biolink:NamedThing	positive regulation of establishment of protein localization	Any process that activates or increases the frequency, rate or extent of establishment of protein localization.		mondo.json	positive regulation of establishment of protein localisation|activation of protein positioning|positive regulation of protein positioning|up-regulation of establishment of protein localization|upregulation of protein recruitment|upregulation of establishment of protein localisation|up regulation of establishment of protein localization|upregulation of protein positioning|activation of establishment of protein localization|up-regulation of protein recruitment|up-regulation of establishment of protein localisation|upregulation of establishment of protein localization|up regulation of protein recruitment|up-regulation of protein positioning|activation of protein recruitment|up regulation of establishment of protein localisation|positive regulation of protein recruitment|activation of establishment of protein localisation|up regulation of protein positioning	http://purl.obolibrary.org/obo/GO_1904951		
GO:1904950	biolink:NamedThing	negative regulation of establishment of protein localization	Any process that stops, prevents or reduces the frequency, rate or extent of establishment of protein localization.		mondo.json	down-regulation of protein recruitment|inhibition of establishment of protein localization|negative regulation of protein recruitment|downregulation of establishment of protein localization|down-regulation of establishment of protein localisation|negative regulation of establishment of protein localisation|down-regulation of protein positioning|down regulation of protein recruitment|negative regulation of protein positioning|down regulation of establishment of protein localisation|down regulation of protein positioning|inhibition of protein recruitment|downregulation of protein recruitment|down-regulation of establishment of protein localization|downregulation of establishment of protein localisation|inhibition of establishment of protein localisation|downregulation of protein positioning|inhibition of protein positioning|down regulation of establishment of protein localization	http://purl.obolibrary.org/obo/GO_1904950		
GO:0035148	biolink:NamedThing	tube formation	Creation of the central hole of a tube in an anatomical structure through which gases and/or liquids flow.		mondo.json	tube lumen formation|lumen formation in an anatomical structure	http://purl.obolibrary.org/obo/GO_0035148		
MONDO:0013194	biolink:Disease	Pseudopili annulati		OMIM:613241	mondo.json	Pseudopili annulati	http://purl.obolibrary.org/obo/MONDO_0013194	https://omim.org/entry/613241	
MONDO:0013195	biolink:Disease	hypertrophic cardiomyopathy 13	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.	MESH:C567686|UMLS:C2750472|DOID:0110319|OMIM:613243	mondo.json	hypertrophic cardiomyopathy type 13|TNNC1 hypertrophic cardiomyopathy|cardiomyopathy familial hypertrophic 13|cardiomyopathy, familial hypertrophic, type 13|hypertrophic cardiomyopathy caused by mutation in TNNC1|cardiomyopathy, familial hypertrophic, 13|CMH13|cardiomyopathy, hypertrophic, 13	http://purl.obolibrary.org/obo/MONDO_0013195	DOID:0110319|UMLS:C2750472|https://omim.org/entry/613243|http://identifiers.org/mesh/C567686	
MONDO:0013192	biolink:Disease	spondyloarthropathy, susceptibility to, 3		DOID:0080605|OMIM:613238	mondo.json	spondyloarthropathy, susceptibility to, 3|SPDA3	http://purl.obolibrary.org/obo/MONDO_0013192	https://omim.org/entry/613238|DOID:0080605	predisposition
MONDO:0013193	biolink:Disease	thyrotoxic periodic paralysis, susceptibility to, 2	Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene.	OMIM:613239	mondo.json	KCNJ18 thyrotoxic periodic paralysis|thyrotoxic periodic paralysis, susceptibility to, 2|thyrotoxic periodic paralysis caused by mutation in KCNJ18|TTPP2|thyrotoxic periodic paralysis, susceptibility to, type 2	http://purl.obolibrary.org/obo/MONDO_0013193	https://omim.org/entry/613239	predisposition
MONDO:0013198	biolink:Disease	dilated cardiomyopathy 1EE	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene.	MESH:C567683|DOID:0110453|OMIM:613252|UMLS:C2750466	mondo.json	CMD1EE|familial isolated dilated cardiomyopathy caused by mutation in MYH6|cardiomyopathy, dilated, type 1Ee|cardiomyopathy, dilated, 1EE|MYH6 familial isolated dilated cardiomyopathy|dilated cardiomyopathy type 1EE	http://purl.obolibrary.org/obo/MONDO_0013198	DOID:0110453|https://omim.org/entry/613252|UMLS:C2750466|http://identifiers.org/mesh/C567683	
MONDO:0013199	biolink:Disease	tuberous sclerosis 2	Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene).	OMIM:191100|OMIM:613254|MESH:C566021|DOID:0080325|NCIT:C75331|GARD:0005381	mondo.json	TSC2|tuberous sclerosis type 2|tuberous sclerosis, type 2|tuberous sclerosis-2|TSC2 Angiomyolipomas, renal, modifier of|tuberous sclerosis 2	http://purl.obolibrary.org/obo/MONDO_0013199	DOID:0080325|NCIT:C75331|https://omim.org/entry/613254|http://identifiers.org/mesh/C566021	gard_rare
MONDO:0013196	biolink:Disease	colorectal cancer, hereditary nonpolyposis, type 8	Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the EPCAM gene.	MESH:C567685|OMIM:613244|UMLS:C2750471|DOID:0070270	mondo.json	EPCAM hereditary nonpolyposis colon cancer|colorectal cancer, hereditary nonpolyposis, type 8|HNPCC8|hereditary nonpolyposis colon cancer caused by mutation in EPCAM	http://purl.obolibrary.org/obo/MONDO_0013196	https://omim.org/entry/613244|UMLS:C2750471|DOID:0070270|http://identifiers.org/mesh/C567685	
MONDO:0013197	biolink:Disease	hypertrophic cardiomyopathy 14	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene.	MESH:C567684|DOID:0110320|UMLS:C2750467|OMIM:613251	mondo.json	cardiomyopathy, familial hypertrophic, type 14|cardiomyopathy, hypertrophic, 14|cardiomyopathy, familial hypertrophic, 14|cardiomyopathy familial hypertrophic 14|CMH14|hypertrophic cardiomyopathy type 14|MYH6 hypertrophic cardiomyopathy|hypertrophic cardiomyopathy caused by mutation in MYH6	http://purl.obolibrary.org/obo/MONDO_0013197	DOID:0110320|UMLS:C2750467|https://omim.org/entry/613251|http://identifiers.org/mesh/C567684	
MONDO:0025169	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0025169		
GO:0050796	biolink:NamedThing	regulation of insulin secretion	Any process that modulates the frequency, rate or extent of the regulated release of insulin.		mondo.json		http://purl.obolibrary.org/obo/GO_0050796		
GO:0050794	biolink:NamedThing	regulation of cellular process	Any process that modulates the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level.		mondo.json	regulation of cellular physiological process	http://purl.obolibrary.org/obo/GO_0050794		
GO:0050795	biolink:NamedThing	regulation of behavior	Any process that modulates the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli.		mondo.json	regulation of behaviour	http://purl.obolibrary.org/obo/GO_0050795		
MONDO:0013180	biolink:Disease	asthma-related traits, susceptibility to, 8		OMIM:613207	mondo.json	ASRT8|asthma-RELATED traits, susceptibility to, 8|asthma-related traits, susceptibility to, 8|Rhinoconjunctivitis, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0013180	https://omim.org/entry/613207	predisposition
MONDO:0025163	biolink:Disease	white heifer disease	A congenital reproductive abnormality in white female offspring (heifers) in certain breeds of cattle, such as Belgian Blue and Shorthorn. The white color is inherited as a recessive trait which is associated with defects in the female reproductive tract (Muellerian system). These heifers are usually sterile.	SCTID:82642007|UMLS:C0043152|MESH:D050072	mondo.json	disease, White heifer	http://purl.obolibrary.org/obo/MONDO_0025163	http://identifiers.org/mesh/D050072|http://identifiers.org/snomedct/82642007|UMLS:C0043152	
MONDO:0025167	biolink:Disease	reticuloendotheliosis, avian	A group of pathologic syndromes found in avian species caused by reticuloendotheliosis virus. The distinct syndromes include non-neoplastic runting, acute neoplastic disease, and chronic neoplastic disease. Humans and mammals appear resistant.	UMLS:C0276487|MESH:D055761	mondo.json	Avian Reticuloendothelioses|Reticuloendothelioses, Avian|Avian reticuloendotheliosis	http://purl.obolibrary.org/obo/MONDO_0025167	http://identifiers.org/mesh/D055761|UMLS:C0276487	
GO:0060100	biolink:NamedThing	positive regulation of phagocytosis, engulfment	Any process that activates or increases the frequency, rate or extent of the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis.		mondo.json		http://purl.obolibrary.org/obo/GO_0060100		
GO:0060101	biolink:NamedThing	negative regulation of phagocytosis, engulfment	Any process that stops, prevents, or reduces the frequency, rate or extent of the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis.		mondo.json		http://purl.obolibrary.org/obo/GO_0060101		
MONDO:0013189	biolink:Disease	trichotillomania	A disorder characterized by repetitive pulling out of one's hair resulting in noticeable hair loss; the individual experiences a rising subjective sense of tension before pulling out the hair and a sense of gratification or relief when pulling out the hair.	SCTID:17155009|MESH:D014256|ICD9:312.39|GARD:0007803|DOID:0050587|NCIT:C94336|ICD10CM:F63.3|OMIM:613229	mondo.json	trichotillomania|trichotillomania, multifactorial|TTM	http://purl.obolibrary.org/obo/MONDO_0013189	http://identifiers.org/snomedct/17155009|DOID:0050587|http://purl.bioontology.org/ontology/ICD10CM/F63.3|https://omim.org/entry/613229|http://identifiers.org/mesh/D014256|NCIT:C94336	
MONDO:0013183	biolink:Disease	congenital stationary night blindness 1C	Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene.	DOID:0110867|OMIM:613216|MESH:C567704|UMLS:C2750747	mondo.json	congenital stationary night blindness type 1C|congenital stationary night blindness 1C|CSNB1C|night blindness, congenital stationary, type 1C|congenital stationary night blindness 1C autosomal recessive|TRPM1 congenital stationary night blindness|night blindness, congenital stationary (complete), 1C, autosomal recessive|congenital stationary night blindness caused by mutation in TRPM1|CSNB, complete, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0013183	DOID:0110867|https://omim.org/entry/613216|UMLS:C2750747|http://identifiers.org/mesh/C567704	
MONDO:0013184	biolink:Disease	congenital diarrhea 5 with tufting enteropathy	Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.	SCTID:715669000|GARD:0010630|Orphanet:92050|OMIM:613217|MESH:C567703|UMLS:C4275062|DOID:0060776|UMLS:C2750737	mondo.json	IED|congenital tufting enteropathy|diarrhea 5, with tufting enteropathy, congenital|secretory diarrhea caused by mutation in EPCAM|congenital diarrhea 5 with tufting enteropathy|enteropathy, congenital tufting|congenital familial intractable diarrhea with epithelial or epithelium abnormalities|DIAR5|intestinal epithelial dysplasia|congenital familial intractable diarrhea with enterocytes assembly abnormalities|tufting enteropathy|EPCAM secretory diarrhea|congenital enteropathy|intestinal epithelial cell dysplasia	http://purl.obolibrary.org/obo/MONDO_0013184	https://omim.org/entry/613217|http://identifiers.org/snomedct/715669000|DOID:0060776|UMLS:C4275062|UMLS:C2750737|Orphanet:92050|http://identifiers.org/mesh/C567703	ordo_disease
MONDO:0013181	biolink:Disease	amelogenesis imperfecta hypomaturation type 2A3	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene.	UMLS:C2750771|MESH:C567706|OMIM:613211|DOID:0110061	mondo.json	amelogenesis imperfecta hypomaturation type IIA3|amelogenesis imperfecta type IIA3|amelogenesis imperfecta, hypomaturation type, IIA3|WDR72 amelogenesis imperfecta|amelogenesis imperfecta caused by mutation in WDR72|amelogenesis imperfecta, type IIA3|amelogenesis imperfecta hypomaturation type 2A3|AI2A3	http://purl.obolibrary.org/obo/MONDO_0013181	DOID:0110061|https://omim.org/entry/613211|UMLS:C2750771|http://identifiers.org/mesh/C567706	
MONDO:0013182	biolink:Disease	chromosome 17p13.3 duplication syndrome	17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.	Orphanet:217385|UMLS:C2750748|DOID:0060432|SCTID:719582007|MESH:C567705|UMLS:C4304641|OMIM:613215	mondo.json	chromosome 17p13.3, centromeric, DUPLICATION syndrome|trisomy 17p13.3|chromosome 17p13.3 centromeric duplication syndrome|dup(17)(p13.3)|17p13.3 duplication syndrome|17p13.3 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0013182	UMLS:C4304641|DOID:0060432|https://omim.org/entry/613215|UMLS:C2750748|Orphanet:217385|http://identifiers.org/snomedct/719582007|http://identifiers.org/mesh/C567705	ordo_malformation_syndrome
MONDO:0013187	biolink:Disease	factor XIII, A subunit, deficiency of		OMIM:613225|UMLS:C2584877|MESH:C567691|SCTID:439455002	mondo.json	hereditary factor XIII alpha subunit deficiency|hereditary factor XIII A subunit deficiency|factor XIII, A subunit, deficiency of|hereditary factor XIII type II deficiency|factor XIIIA deficiency	http://purl.obolibrary.org/obo/MONDO_0013187	http://identifiers.org/snomedct/439455002|http://identifiers.org/mesh/C567691|UMLS:C2584877|https://omim.org/entry/613225	
MONDO:0013188	biolink:Disease	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3	Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene.	OMIM:613227|UMLS:C2750509|MESH:C567690	mondo.json	CA8 dysequilibrium syndrome|CAMRQ3|cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 3|dysequilibrium syndrome caused by mutation in CA8|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 3|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 3|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3|cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3	http://purl.obolibrary.org/obo/MONDO_0013188	http://identifiers.org/mesh/C567690|UMLS:C2750509|https://omim.org/entry/613227	
GO:0050793	biolink:NamedThing	regulation of developmental process	Any process that modulates the frequency, rate or extent of development, the biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult).		mondo.json		http://purl.obolibrary.org/obo/GO_0050793		
MONDO:0013185	biolink:Disease	leprosy, susceptibility to, 5	Any leprosy in which the cause of the disease is a mutation in the TLR1 gene.	OMIM:613223	mondo.json	TLR1 leprosy|susceptibility to leprosy 5|leprosy, susceptibility to, 5|leprosy, susceptibility to, type 5|leprosy caused by mutation in TLR1|LPRS5|leprosy, protection against	http://purl.obolibrary.org/obo/MONDO_0013185	https://omim.org/entry/613223	predisposition
GO:0050790	biolink:NamedThing	regulation of catalytic activity	Any process that modulates the activity of an enzyme.		mondo.json	regulation of enzyme activity|regulation of metalloenzyme activity	http://purl.obolibrary.org/obo/GO_0050790		
MONDO:0013186	biolink:Disease	Noonan syndrome 6	Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene.	OMIM:613224|UMLS:C2750732|DOID:0060584|GARD:0010701|MESH:C548084	mondo.json	Noonan syndrome 6|NRAS gene related Noonan syndrome|Noonan syndrome caused by mutation in NRAS|Noonan syndrome type 6|NRAS Noonan syndrome|NS6	http://purl.obolibrary.org/obo/MONDO_0013186	http://identifiers.org/mesh/C548084|DOID:0060584|https://omim.org/entry/613224|UMLS:C2750732	gard_rare
MONDO:0001189	biolink:Disease	obsolete esophageal carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001189		
MONDO:0001188	biolink:Disease	esophagus lymphoma	An extranodal lymphoma that arises from the esophagus with the bulk of the mass located in the esophagus. Dysphagia may be the presenting symptom. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.	DOID:1106|NCIT:C5687|UMLS:C1333459	mondo.json	lymphoma of esophagus|primary esophageal lymphoma|lymphoma of the esophagus|esophageal lymphoma|esophagus lymphoma	http://purl.obolibrary.org/obo/MONDO_0001188	UMLS:C1333459|DOID:1106|NCIT:C5687	
MONDO:0025159	biolink:Disease	pneumonia of swine, mycoplasmal	A chronic, clinically mild, infectious pneumonia of pigs caused by mycoplasma hyopneumoniae. Ninety percent of swine herds worldwide are infected with this economically costly disease that primarily affects animals aged two to six months old. The disease can be associated with porcine respiratory disease complex. pasteurella multocida is often found as a secondary infection.	UMLS:C1258090|MESH:D045729	mondo.json	pneumonia of swine, enzootic|Mycoplasma pneumonia of pigs|Mycoplasmal pneumonia of swine|swine enzootic pneumonia|swine Mycoplasmal pneumonia|swine Mycoplasma pneumonia|Mycoplasma pneumonia of swine|enzootic pneumonia of pigs|enzootic pneumonia of swine	http://purl.obolibrary.org/obo/MONDO_0025159	http://identifiers.org/mesh/D045729|UMLS:C1258090	
MONDO:0001183	biolink:Disease	contact lens corneal edema		SCTID:49362009|UMLS:C0474442|ICD9:371.24|DOID:11034	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001183	UMLS:C0474442|DOID:11034|http://identifiers.org/snomedct/49362009	
MONDO:0001182	biolink:Disease	idiopathic corneal edema		SCTID:1794009|ICD9:371.21|DOID:11033|UMLS:C0155109	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001182	http://identifiers.org/snomedct/1794009|UMLS:C0155109|DOID:11033	
MONDO:0025152	biolink:Disease	non-human ape disease	Diseases of chimpanzees, gorillas, and orangutans.	MESH:D018420|UMLS:C0242635	mondo.json	disease, Pongidae|disease, ape|Pongidae disease|diseases, Pongidae|ape disease|Pongidae diseases|diseases, ape	http://purl.obolibrary.org/obo/MONDO_0025152	UMLS:C0242635|http://identifiers.org/mesh/D018420	
MONDO:0001181	biolink:Disease	secondary corneal edema		SCTID:27536004|UMLS:C0155110|ICD9:371.22|DOID:11032	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001181	UMLS:C0155110|http://identifiers.org/snomedct/27536004|DOID:11032	
MONDO:0001180	biolink:Disease	bullous keratopathy	Keratopathy that is characterized by the presence of epithelial bullae.	ICD10CM:H18.1|ICD9:371.23|SCTID:57207003|UMLS:C0155111|NCIT:C26970|DOID:11031	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001180	UMLS:C0155111|DOID:11031|NCIT:C26970|http://purl.bioontology.org/ontology/ICD10CM/H18.1|http://identifiers.org/snomedct/57207003	
MONDO:0001187	biolink:Disease	urinary bladder cancer	A primary or metastatic malignant neoplasm involving the bladder.	DOID:11054|UMLS:C0005684|ICD9:188.9|KEGG:05219|SCTID:399326009|ICD9:188|OMIM:109800|Orphanet:157980|NCIT:C9334|ICD9:188.8	mondo.json	malignant neoplasm of the bladder|malignant bladder neoplasm|malignant tumor of the urinary bladder|malignant tumor of urinary bladder|malignant neoplasm of bladder|malignant bladder tumor|malignant urinary bladder neoplasm|malignant tumor of the bladder|urinary bladder malignant neoplasm|malignant neoplasm, urinary bladder|bladder cancer, somatic|malignant tumor of bladder|cancer of urinary bladder|urinary bladder cancer|malignant neoplasm of urinary bladder|malignant neoplasm of the urinary bladder|tumor of the bladder|malignant tumor, urinary bladder|malignant urinary bladder tumor|urinary bladder malignant tumor|malignant neoplasm, bladder	http://purl.obolibrary.org/obo/MONDO_0001187	NCIT:C9334|DOID:11054|Orphanet:157980|UMLS:C0005684|http://identifiers.org/snomedct/399326009|https://omim.org/entry/109800	
MONDO:0001186	biolink:Disease	depersonalization disorder	A disorder characterized by persistent or recurrent episodes of feeling detached from one's self (either one's body or one's mental processes), although the sufferer remains aware that this is only a feeling and does not represent reality.	GARD:0006260|SCTID:70764005|DOID:11038|ICD9:300.6|NCIT:C94331	mondo.json	neurotic derealization	http://purl.obolibrary.org/obo/MONDO_0001186	NCIT:C94331|http://identifiers.org/snomedct/70764005|DOID:11038	gard_rare
MONDO:0001185	biolink:Disease	dissociative amnesia	A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition.	ICD9:300.12|NCIT:C94328|ICD10CM:F44.0|DOID:11037|SCTID:84209002	mondo.json	psychogenic amnesia	http://purl.obolibrary.org/obo/MONDO_0001185	NCIT:C94328|http://identifiers.org/snomedct/84209002|DOID:11037|http://purl.bioontology.org/ontology/ICD10CM/F44.0	
MONDO:0001184	biolink:Disease	chronic rapidly progressive glomerulonephritis	Chronic form of rapidly progressive glomerulonephritis.	UMLS:C0341694|ICD9:582.4|DOID:11036|SCTID:197614002	mondo.json	chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis|rapidly progressive glomerulonephritis, chronic	http://purl.obolibrary.org/obo/MONDO_0001184	DOID:11036|UMLS:C0341694|http://identifiers.org/snomedct/197614002	
MONDO:0025155	biolink:Disease	hemorrhagic syndrome, bovine	Clinically severe acute disease of cattle caused by noncytopathic forms of Bovine viral diarrhea virus 2 (diarrhea virus 2, bovine viral). Outbreaks are characterized by high morbidity and high mortality.	MESH:D030243|UMLS:C0950112	mondo.json	bovine hemorrhagic syndrome	http://purl.obolibrary.org/obo/MONDO_0025155	http://identifiers.org/mesh/D030243|UMLS:C0950112	obsoletion_candidate
MONDO:0013178	biolink:Disease	congenital muscular dystrophy due to LMNA mutation	Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.	UMLS:C2750785|NCIT:C148369|Orphanet:157973|GARD:0012585|OMIM:613205|MESH:C567708|DOID:0110640	mondo.json	muscular dystrophy, congenital|muscular dystrophy Congenital, LMNA-related|congenital muscular dystrophy caused by mutation in LMNA|LMNA-related congenital muscular dystrophy|muscular dystrophy, congenital, LMNA-related|L-CMD|congenital muscular dystrophy LMNA-related|MDCL|LMNA congenital muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0013178	http://identifiers.org/mesh/C567708|DOID:0110640|https://omim.org/entry/613205|Orphanet:157973|UMLS:C2750785|NCIT:C148369	ordo_disease|gard_rare
MONDO:0013179	biolink:Disease	hereditary spastic paraplegia 44	A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.	SCTID:723821002|OMIM:613206|Orphanet:320401|DOID:0110796|MESH:C567707|UMLS:C2750784	mondo.json	hereditary spastic paraplegia type 44|autosomal recessive spastic paraplegia type 44|autosomal recessive complex spastic paraplegia caused by mutation in GJC2|spastic paraplegia 44, autosomal recessive|GJC2 autosomal recessive complex spastic paraplegia|autosomal recessive spastic paraplegia 44|SPG44	http://purl.obolibrary.org/obo/MONDO_0013179	http://identifiers.org/mesh/C567707|Orphanet:320401|http://identifiers.org/snomedct/723821002|DOID:0110796|https://omim.org/entry/613206|UMLS:C2750784	ordo_disease
GO:0060136	biolink:NamedThing	embryonic process involved in female pregnancy	A reproductive process occurring in the embryo or fetus that allows the embryo or fetus to develop within the mother.		mondo.json		http://purl.obolibrary.org/obo/GO_0060136		
MONDO:0013172	biolink:Disease	polymicrogyria with optic nerve hypoplasia	A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.	Orphanet:250972|MESH:C567715|OMIM:613180|UMLS:C2750798	mondo.json	polymicrogyria with optic nerve hypoplasia|cortical dysplasia, complex, with other brain malformations 8|cortical dysplasia, Complex, with Other brain malformations 8|CDCBM8	http://purl.obolibrary.org/obo/MONDO_0013172	http://identifiers.org/mesh/C567715|UMLS:C2750798|Orphanet:250972	ordo_malformation_syndrome
MONDO:0013173	biolink:Disease	intellectual disability, autosomal recessive 13	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene.	OMIM:613192|UMLS:C2750791|MESH:C567714	mondo.json	mental retardation, autosomal recessive type 13|mental retardation, autosomal recessive 13|MRT13|TRAPPC9 autosomal recessive non-syndromic intellectual disability|autosomal recessive non-syndromic intellectual disability caused by mutation in TRAPPC9|intellectual disability, autosomal recessive 13|intellectual disability, autosomal recessive type 13	http://purl.obolibrary.org/obo/MONDO_0013173	http://identifiers.org/mesh/C567714|https://omim.org/entry/613192|UMLS:C2750791	
MONDO:0013170	biolink:Disease	cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13	Orphanet:221145|PMID:19836010|MESH:C567716|DOID:0070139|UMLS:C2750804|OMIM:613177	mondo.json	autosomal recessive cutis laxa type 1C|cutis laxa, autosomal recessive, type IC|Urban-Rifkin-Davis syndrome|cutis laxa, autosomal recessive, type 1C|autosomal recessive cutis laxa type IC|cutis laxa with Severe pulmonary, gastrointestinal, and urinary abnormalities|ARCL1C	http://purl.obolibrary.org/obo/MONDO_0013170	http://identifiers.org/mesh/C567716|https://omim.org/entry/613177|Orphanet:221145|UMLS:C2750804|DOID:0070139	ordo_malformation_syndrome
MONDO:0013171	biolink:Disease	purine nucleoside phosphorylase deficiency	Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.	ICD9:277.2|NCIT:C3963|MESH:C562587|UMLS:C0268125|HGNC:7892|SCTID:60743005|GARD:0004606|Orphanet:760|OMIM:613179|DOID:5813	mondo.json	PNP deficiency|purine-nucleoside phosphorylase deficiency|immunodeficiency due to purine nucleoside phosphorylase deficiency|PNPase deficiency|nucleoside phosphorylase deficiency|deficiency of inosine phosphorylase|purine nucleoside phosphorylase deficiency	http://purl.obolibrary.org/obo/MONDO_0013171	DOID:5813|Orphanet:760|http://identifiers.org/snomedct/60743005|https://omim.org/entry/613179|http://identifiers.org/mesh/C562587|UMLS:C0268125|NCIT:C3963	gard_rare|ordo_disease
MONDO:0013176	biolink:Disease	Weill-Marchesani 4 syndrome, recessive		Orphanet:363992|MESH:C567710|UMLS:C2750787|OMIM:613195	mondo.json	Weill-Marchesani-like syndrome|WMS4|Weill-Marchesani syndrome 4|ichthyosis-short stature-brachydactyly-microspherophakia syndrome|15q26.3 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013176	http://identifiers.org/mesh/C567710|Orphanet:363992|https://omim.org/entry/613195|UMLS:C2750787	ordo_disease
MONDO:0013177	biolink:Disease	congenital muscular dystrophy due to integrin alpha-7 deficiency	Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.	DOID:0110639|Orphanet:34520|GARD:0012587|UMLS:C2750786|MESH:C567709|OMIM:613204	mondo.json	congenital muscular dystrophy caused by mutation in ITGA7|muscular dystrophy, congenital, due to integrin ALPHA-7 deficiency|congenital muscular dystrophy with integrin alpha-7 deficiency|congenital muscular dystrophy with ITGA7 deficiency|congenital myopathy due to integrin alpha-7 deficiency|muscular dystrophy, congenital, due to ITGA7 deficiency|ITGA7 congenital muscular dystrophy|myopathy, congenital, due to integrin Alpha-7 deficiency	http://purl.obolibrary.org/obo/MONDO_0013177	http://identifiers.org/mesh/C567709|DOID:0110639|https://omim.org/entry/613204|UMLS:C2750786|Orphanet:34520	ordo_disease
MONDO:0013174	biolink:Disease	primary ciliary dyskinesia 13	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene.	MESH:C567713|DOID:0110618|UMLS:C2750790|OMIM:613193	mondo.json	primary ciliary dyskinesia type 13|CILD13|primary ciliary dyskinesia 13|ciliary dyskinesia, primary, 13|primary ciliary dyskinesia caused by mutation in DNAAF1|primary ciliary dyskinesia 13 with or without situs inversus|ciliary dyskinesia, primary, 13, with or without situs inversus|DNAAF1 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 13	http://purl.obolibrary.org/obo/MONDO_0013174	http://identifiers.org/mesh/C567713|DOID:0110618|https://omim.org/entry/613193|UMLS:C2750790	
MONDO:0013175	biolink:Disease	retinitis pigmentosa 50	Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene.	MESH:C567712|OMIM:613194|DOID:0110396|ICD10CM:H35.5	mondo.json	retinitis pigmentosa type 50|retinitis pigmentosa, concentric|RP50|retinitis pigmentosa caused by mutation in BEST1|retinitis pigmentosa-50|retinitis pigmentosa 50|BEST1 retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0013175	http://identifiers.org/mesh/C567712|DOID:0110396|https://omim.org/entry/613194	
MONDO:0025149	biolink:Disease	encephalopathy, bovine spongiform	A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ataxia. This disorder has been associated with consumption of scrapie infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant creutzfeldt-jakob syndrome. (Vet Rec 1998 Jul 25;143(41):101-5)	MESH:D016643	mondo.json	spongiform encephalopathy, bovine|BSEs (bovine spongiform encephalopathy)|bovine spongiform encephalitis|bovine spongiform encephalopathy|Mad cow diseases|BSE (bovine spongiform encephalopathy)|encephalitis, bovine spongiform|Mad cow disease	http://purl.obolibrary.org/obo/MONDO_0025149	http://identifiers.org/mesh/D016643	
MONDO:0001199	biolink:Disease	dislocation of ear ossicle	Ossicular chain dislocation is a separation of the middle ear bones. It results in a hearing loss due to sound not being transmitted properly (conductive hearing loss). Ossicular chain dislocation is also called ossicular chain discontinuity.	ICD9:385.23|SCTID:87040007|DOID:11129	mondo.json	ossicular dislocation|ossicle chain disarticulation|ossicle chain discontinuity|dislocation of ossicles|dislocation of ear ossicles|ossicle chain disruption	http://purl.obolibrary.org/obo/MONDO_0001199	http://identifiers.org/snomedct/87040007|DOID:11129	
MONDO:0001194	biolink:Disease	obsolete rickettsialpox			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001194		
NCBITaxon:203397	biolink:OrganismalEntity	Rotaliacea		GC_ID:1	mondo.json	Rotalioidea	http://purl.obolibrary.org/obo/NCBITaxon_203397		
MONDO:0001193	biolink:Disease	obsolete chorioretinal scar		ICD9:363.30|SCTID:53854005|DOID:11086|ICD9:363.3	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001193	DOID:11086|http://identifiers.org/snomedct/53854005	
MONDO:0001192	biolink:Disease	esophageal melanoma	A melanoma affecting the esophageal wall. Melanoma in the esophagus is more commonly metastatic than primary. Primary melanomas of the esophagus are polypoid and clinically aggressive. (WHO, 2000)	ONCOTREE:ESMM|NCIT:C5707|DOID:1108|UMLS:C1333460	mondo.json	esophageal melanoma|melanoma (disease) of esophagus|esophagus melanoma (disease)|mucosal melanoma of the esophagus|esophagus melanoma|melanoma of esophagus|melanoma of the esophagus	http://purl.obolibrary.org/obo/MONDO_0001192	DOID:1108|NCIT:C5707|UMLS:C1333460	
MONDO:0001191	biolink:Disease	hirudiniasis	An disease or disorder caused by infection with Hirudinea.	ICD10CM:B88.3|UMLS:C0019575|DOID:11079|ICD9:134.2|SCTID:64351000	mondo.json	Hirudinea disease or disorder|Hirudinea infectious disease|Hirudinea caused disease or disorder|leeches	http://purl.obolibrary.org/obo/MONDO_0001191	UMLS:C0019575|DOID:11079|http://identifiers.org/snomedct/64351000	
MONDO:0001198	biolink:Disease	acquired thrombocytopenia	An instance of thrombocytopenia that is acquired during the lifetime of the individual.	SCTID:74576004|DOID:11126|UMLS:C0154301|ICD9:287.4	mondo.json	secondary thrombocytopenia|acquired thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0001198	DOID:11126|UMLS:C0154301|http://identifiers.org/snomedct/74576004	
MONDO:0001197	biolink:Disease	qualitative platelet defect		ICD9:287.1|SCTID:267532001|DOID:11125|UMLS:C0235604	mondo.json	qualitative platelet deficiency|qualitative platelet defect	http://purl.obolibrary.org/obo/MONDO_0001197	UMLS:C0235604|DOID:11125|http://identifiers.org/snomedct/267532001	
MONDO:0001196	biolink:Disease	psychologic dyspareunia		SCTID:41021005|DOID:11120|MESH:D004414|ICD9:302.76	mondo.json	dyspareunia, psychogenic|non-organic dyspareunia	http://purl.obolibrary.org/obo/MONDO_0001196	DOID:11120|http://identifiers.org/mesh/D004414|http://identifiers.org/snomedct/41021005	
MONDO:0001195	biolink:Disease	spotted fever	A type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia.	MEDGEN:11567|ICD9:083.8|GARD:0004998|UMLS:C0038041|DOID:11104|Orphanet:102022|ICD9:082.0|ICD10CM:A77|SCTID:186771002	mondo.json	spotted fever|fever, spotted|spotted fever group rickettsial disease|spotted fever rickettsiosis|spotted fever Group Rickettsioses|spotted fever Group rickettsiosis|spotted fevers|spotted fever rickettsiae disease|fevers, spotted	http://purl.obolibrary.org/obo/MONDO_0001195	http://purl.bioontology.org/ontology/ICD10CM/A77|Orphanet:102022|DOID:11104|http://identifiers.org/snomedct/186771002|UMLS:C0038041	disease_grouping|gard_rare|ordo_group_of_disorders
MONDO:0013169	biolink:Disease	chromosome 5p13 duplication syndrome	5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).	MESH:C567717|UMLS:C2750805|OMIM:613174|Orphanet:329802|DOID:0060460	mondo.json	5p13 microduplication syndrome|chromosome 5p13 duplication syndrome, isolated cases|trisomy 5p13|chromosome 5p13 duplication syndrome|dup(5)(p13)	http://purl.obolibrary.org/obo/MONDO_0013169	http://identifiers.org/mesh/C567717|Orphanet:329802|DOID:0060460|https://omim.org/entry/613174|UMLS:C2750805	ordo_malformation_syndrome
GO:0060123	biolink:NamedThing	regulation of growth hormone secretion	Any process that modulates the frequency, rate or extent of the regulated release of growth hormone from a cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0060123		
MONDO:0013167	biolink:Disease	parkinson disease 16		MESH:C567726|UMLS:C2751012|OMIM:613164	mondo.json	PARK16|Parkinson disease 16	http://purl.obolibrary.org/obo/MONDO_0013167	http://identifiers.org/mesh/C567726|UMLS:C2751012|https://omim.org/entry/613164	
GO:0060124	biolink:NamedThing	positive regulation of growth hormone secretion	Any process that increases the frequency, rate or extent of the regulated release of growth hormone from a cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0060124		
MONDO:0013168	biolink:Disease	dilated cardiomyopathy 1DD	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene.	MESH:C567725|DOID:0110447|UMLS:C2750995|OMIM:613172	mondo.json	familial isolated dilated cardiomyopathy caused by mutation in RBM20|RBM20 familial isolated dilated cardiomyopathy|CMD1DD|cardiomyopathy, dilated, type 1Dd|cardiomyopathy, dilated, 1DD|dilated cardiomyopathy type 1DD	http://purl.obolibrary.org/obo/MONDO_0013168	http://identifiers.org/mesh/C567725|DOID:0110447|https://omim.org/entry/613172|UMLS:C2750995	
GO:0060125	biolink:NamedThing	negative regulation of growth hormone secretion	Any process that decreases or stops the frequency, rate or extent of the regulated release of growth hormone from a cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0060125		
MONDO:0001190	biolink:Disease	Brucella suis brucellosis	An disease or disorder caused by infection with Brucella suis.	DOID:11076	mondo.json	Brucella suis disease or disorder|Brucella suis infectious disease|Brucella suis caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0001190	DOID:11076	
MONDO:0013161	biolink:Disease	autosomal recessive limb-girdle muscular dystrophy type 2O	Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.	DOID:0110292|OMIM:613157|UMLS:C3150417|GARD:0012540|Orphanet:206564	mondo.json	muscular dystrophy, limb-girdle, type 2O|MDDGC3|autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1|POMGNT1 autosomal recessive limb-girdle muscular dystrophy|LGMD2O|muscular dystrophy-dystroglycanopathy (limb-girdle) type C3|LGMD-POMGNT1 related|muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3|muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT1-related|limb-girdle muscular dystrophy type 2O	http://purl.obolibrary.org/obo/MONDO_0013161	UMLS:C3150417|DOID:0110292|Orphanet:206564|https://omim.org/entry/613157	ordo_disease
MONDO:0013162	biolink:Disease	autosomal recessive limb-girdle muscular dystrophy type 2N	Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability.	Orphanet:206559|UMLS:C3150418|OMIM:613158|DOID:0110298|GARD:0012539	mondo.json	muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2|muscular dystrophy, limb-girdle, type 2N|LGMD-POMT2 related|muscular dystrophy-dystroglycanopathy, limb-girdle, Pomt2-related|LGMD2N|autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2|muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related|limb-girdle muscular dystrophy type 2N|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2|MDDGC2|POMT2 autosomal recessive limb-girdle muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0013162	DOID:0110298|UMLS:C3150418|Orphanet:206559|https://omim.org/entry/613158	ordo_disease
MONDO:0013160	biolink:Disease	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2	An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan.	UMLS:C3150416|OMIM:613156|NCIT:C126690|Orphanet:370959|Orphanet:370968	mondo.json	congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2|congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2|MDDGB2|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2|muscular dystrophy, congenital, Pomt2-related|congenital muscular dystrophy-POMT2 related	http://purl.obolibrary.org/obo/MONDO_0013160	UMLS:C3150416|NCIT:C126690|https://omim.org/entry/613156	
MONDO:0013165	biolink:Disease	hereditary spastic paraplegia 45	Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.	OMIM:613162|Orphanet:320396|SCTID:765753004|UMLS:CN203996|DOID:0110797	mondo.json	NT5C2 autosomal recessive complex spastic paraplegia|SPG65|autosomal recessive spastic paraplegia type 45|autosomal recessive complex spastic paraplegia caused by mutation in NT5C2|SPG45|spastic paraplegia 45, autosomal recessive|autosomal recessive spastic paraplegia 45|hereditary spastic paraplegia type 45|autosomal recessive spastic paraplegia type 65	http://purl.obolibrary.org/obo/MONDO_0013165	UMLS:CN203996|Orphanet:320396|DOID:0110797|https://omim.org/entry/613162|http://identifiers.org/snomedct/765753004	ordo_disease
MONDO:0013166	biolink:Disease	GABA aminotransferase deficiency	Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.	Orphanet:2066|SCTID:237941007|OMIM:613163|MESH:C535407|UMLS:C0342708|HGNC:23|DOID:0060174|GARD:0000194	mondo.json	4 alpha aminobutyrate transaminase deficiency|gamma-amino butyric acid transaminase deficiency|gamma-aminobutyric acid transaminase deficiency|GABA transaminase deficiency|GABAT|gamma aminobutyric acid transaminase deficiency|gamma aminobutyrate transaminase deficiency|GABA-transaminase deficiency|GABA aminotransferase deficiency|ABAT	http://purl.obolibrary.org/obo/MONDO_0013166	http://identifiers.org/snomedct/237941007|Orphanet:2066|http://identifiers.org/mesh/C535407|DOID:0060174|UMLS:C0342708|https://omim.org/entry/613163	gard_rare|ordo_disease
MONDO:0013163	biolink:Disease	nephronophthisis-like nephropathy 1	Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene.	OMIM:613159|UMLS:C3150419|DOID:0111117	mondo.json	NPHP-XPNPEP3|NPHPL1|nephronophthisis (disease) caused by mutation in XPNPEP3|nephronophthisis-like nephropathy type 1|nephronophthisis-like nephropathy 1|XPNPEP3 nephronophthisis (disease)	http://purl.obolibrary.org/obo/MONDO_0013163	DOID:0111117|UMLS:C3150419|https://omim.org/entry/613159	
MONDO:0013164	biolink:Disease	beta-ureidopropionase deficiency	Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).	ICD9:277.6|MESH:C563210|Orphanet:65287|SCTID:124511000|UMLS:C1291512|OMIM:613161	mondo.json	BETA-ureidopropionase deficiency|Beta-alanine synthase deficiency|UPB1D|beta-ureidopropionase deficiency	http://purl.obolibrary.org/obo/MONDO_0013164	http://identifiers.org/snomedct/124511000|http://identifiers.org/mesh/C563210|Orphanet:65287|https://omim.org/entry/613161|UMLS:C1291512	ordo_disease
ENVO:01000875	biolink:NamedThing	precipitation process	A precipitation process is a process in which a portion of some substance segregates from a material in which that substance or its precursors were dissolved or suspended in and settles due to a force such as gravity or centrifugal force.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000875		
GO:1902339	biolink:NamedThing	positive regulation of apoptotic process involved in morphogenesis	Any process that activates or increases the frequency, rate or extent of apoptotic process involved in morphogenesis.		mondo.json	activation of morphogenetic apoptosis|up regulation of apoptosis involved in development|up regulation of apoptosis involved in morphogenesis|positive regulation of apoptosis involved in morphogenesis|up-regulation of apoptotic process involved in morphogenesis|positive regulation of apoptosis involved in development|up-regulation of morphogenetic apoptosis|up regulation of apoptotic process involved in morphogenesis|upregulation of apoptosis involved in morphogenesis|upregulation of apoptosis involved in development|up regulation of morphogenetic apoptosis|activation of apoptotic process involved in morphogenesis|activation of apoptosis involved in morphogenesis|activation of apoptosis involved in development|positive regulation of morphogenetic apoptosis|upregulation of apoptotic process involved in morphogenesis|up-regulation of apoptosis involved in morphogenesis|up-regulation of apoptosis involved in development|upregulation of morphogenetic apoptosis	http://purl.obolibrary.org/obo/GO_1902339		
GO:1902337	biolink:NamedThing	regulation of apoptotic process involved in morphogenesis	Any process that modulates the frequency, rate or extent of apoptotic process involved in morphogenesis.		mondo.json	regulation of morphogenetic apoptosis|regulation of apoptosis involved in morphogenesis|regulation of apoptosis involved in development	http://purl.obolibrary.org/obo/GO_1902337		
GO:1902338	biolink:NamedThing	negative regulation of apoptotic process involved in morphogenesis	Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in morphogenesis.		mondo.json	down regulation of apoptotic process involved in morphogenesis|down regulation of morphogenetic apoptosis|inhibition of apoptosis involved in morphogenesis|inhibition of apoptosis involved in development|inhibition of apoptotic process involved in morphogenesis|downregulation of apoptotic process involved in morphogenesis|downregulation of morphogenetic apoptosis|negative regulation of apoptosis involved in morphogenesis|negative regulation of apoptosis involved in development|down-regulation of apoptosis involved in morphogenesis|down-regulation of apoptosis involved in development|inhibition of morphogenetic apoptosis|down regulation of apoptosis involved in development|down regulation of apoptosis involved in morphogenesis|down-regulation of apoptotic process involved in morphogenesis|downregulation of apoptosis involved in morphogenesis|down-regulation of morphogenetic apoptosis|negative regulation of morphogenetic apoptosis|downregulation of apoptosis involved in development	http://purl.obolibrary.org/obo/GO_1902338		
GO:1902340	biolink:NamedThing	negative regulation of chromosome condensation	Any process that stops, prevents or reduces the frequency, rate or extent of chromosome condensation.		mondo.json	down regulation of nuclear chromosome condensation|down-regulation of chromosome condensation|downregulation of eukaryotic chromosome condensation|downregulation of nuclear chromosome condensation|inhibition of nuclear chromosome condensation|down regulation of chromosome condensation|down regulation of eukaryotic chromosome condensation|inhibition of eukaryotic chromosome condensation|downregulation of chromosome condensation|inhibition of chromosome condensation|down-regulation of eukaryotic chromosome condensation|negative regulation of eukaryotic chromosome condensation|negative regulation of nuclear chromosome condensation|down-regulation of nuclear chromosome condensation	http://purl.obolibrary.org/obo/GO_1902340		
GO:0060156	biolink:NamedThing	milk ejection reflex	A reflex that occurs in response to suckling, beginning with a nerve impulse from a receptor in the mammary gland and ending with the ejection of milk from the gland. Signaling never reaches a level of consciousness.		mondo.json	milk ejection	http://purl.obolibrary.org/obo/GO_0060156		
NCBITaxon:37816	biolink:OrganismalEntity	Rickettsia honei		PMID:8735110|GC_ID:11|PMID:9828442	mondo.json	Flinders Island spotted fever rickettsia|Thai tick typhus rickettsia	http://purl.obolibrary.org/obo/NCBITaxon_37816		
HP:0010929	biolink:PhenotypicFeature	Abnormal blood cation concentration	An abnormality of cation homeostasis.	UMLS:C4023646	mondo.json	Abnormality of cation homeostasis	http://purl.obolibrary.org/obo/HP_0010929		
HP:0010927	biolink:PhenotypicFeature	Abnormal blood inorganic cation concentration	An abnormality of divalent inorganic cation homeostasis.	UMLS:C4023648	mondo.json	Abnormality of divalent inorganic cation homeostasis	http://purl.obolibrary.org/obo/HP_0010927		
NCBITaxon:2601530	biolink:OrganismalEntity	Eutetramitia		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2601530		
GO:0098772	biolink:NamedThing	molecular function regulator activity	A molecular function regulator regulates the activity of its target via non-covalent binding that does not result in covalent modification to the target. Examples of molecular function regulators include regulatory subunits of multimeric enzymes and channels. Mechanisms of regulation include allosteric changes in the target and competitive inhibition.		mondo.json	molecular function regulator	http://purl.obolibrary.org/obo/GO_0098772		
GO:0098773	biolink:NamedThing	skin epidermis development	The process whose specific outcome is the progression of the skin epidermis over time, from its formation to the mature structure.		mondo.json		http://purl.obolibrary.org/obo/GO_0098773		
NCBITaxon:2601529	biolink:OrganismalEntity	Tetramitia		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2601529		
GO:0098771	biolink:NamedThing	inorganic ion homeostasis	Any process involved in the maintenance of an internal steady state of inorganic ions within an organism or cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0098771		
ENVO:01000869	biolink:NamedThing	area of scrub	An area of a planet's surface which is primarily covered by a shrubs, young trees, or stunted trees.. The surfaces of this area are in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction.		mondo.json	area of shrub	http://purl.obolibrary.org/obo/ENVO_01000869		
HP:0010914	biolink:PhenotypicFeature	Abnormal circulating valine concentration	Any deviation from the normal circulation of valine in the blood circulation.	UMLS:C4023656	mondo.json	Abnormality of valine metabolism	http://purl.obolibrary.org/obo/HP_0010914		
HP:0010911	biolink:PhenotypicFeature	Hyperleucinemia	An increased concentration of leucine in the blood.	SNOMEDCT_US:24013007|UMLS:C0268576	mondo.json	High blood leucine concentration	http://purl.obolibrary.org/obo/HP_0010911		
HP:0010910	biolink:PhenotypicFeature	Hypervalinemia	An increased concentration of valine in the blood.	SNOMEDCT_US:47719001|MSH:C536524|UMLS:C0268573	mondo.json	High blood valine concentration	http://purl.obolibrary.org/obo/HP_0010910		
HP:0010919	biolink:PhenotypicFeature	Abnormal circulating homocysteine concentration	An abnormality of a homocysteine metabolic process.	UMLS:C4023651	mondo.json		http://purl.obolibrary.org/obo/HP_0010919		
NCBITaxon:1399770	biolink:OrganismalEntity	Entomophthoromycetes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1399770		
HP:0010917	biolink:PhenotypicFeature	Abnormal circulating tyrosine concentration	Any deviation from the normal concentration of tyrosine in the blood circulation.	UMLS:C4023653	mondo.json		http://purl.obolibrary.org/obo/HP_0010917		
ENVO:01000895	biolink:NamedThing	snowfall	A hydrological process in which irregular aggregates of snow fall to a planetary surface.		mondo.json	snow fall	http://purl.obolibrary.org/obo/ENVO_01000895		
MONDO:0025193	biolink:Disease	oculopharyngodistal myopathy	Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown.	MESH:C563508|GARD:0012592|SCTID:763829004|OMIMPS:164310|Orphanet:98897|UMLS:C1834014	mondo.json	oculopharyngeal distal myopathy|oculopharyngodistal myopathy|OPDM|faciooculolaryngopharyngeal myopathy with distal and respiratory involvement	http://purl.obolibrary.org/obo/MONDO_0025193	http://identifiers.org/mesh/C563508|UMLS:C1834014|https://omim.org/phenotypicSeries/PS164310|Orphanet:98897|http://identifiers.org/snomedct/763829004	gard_rare|ordo_disease|ordo_inheritance_inconsistent
MONDO:0037149	biolink:Disease	HSD10 disease, atypical type		Orphanet:85295	mondo.json	Syndromic X-linked intellectual disability type 10|X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome|HSD10 deficiency, atypical type	http://purl.obolibrary.org/obo/MONDO_0037149	Orphanet:85295	ordo_subtype_of_a_disorder
HGNC:12399	biolink:NamedThing	MYOT			mondo.json		http://identifiers.org/hgnc/12399		
MONDO:0025190	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0025190		
ENVO:01000887	biolink:NamedThing	area of sedge- and forb-dominated herbaceous vegetation	An area of a planet's surface which is primarily covered by sedges or forbs, possibly interpersed with grasses or grass-like plants. This area is in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000887		
ENVO:01000888	biolink:NamedThing	area of gramanoid or herbaceous vegetation	An area of a planet's surface which is primarily covered by gramanoid or herbaceous vegetation and which is not subject to intensive management by humans. This area is in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000888		
ENVO:01000883	biolink:NamedThing	area of developed open space	An area of a planet's surface which is primarily covered by cultivated or anthropically maintained vegetation planted for recreation, erosion control, or aesthetic purposes interspersed by constructed or manufactured objects and materials. This area is in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000883		
MONDO:0040797	biolink:Disease	obsolete vascular headache	OBSOLETE. An outdated term to describe certain types of headache which were thought to be related to blood vessel swelling and hyperemia as cause of pain. it is no longer a recognized term and not mentioned in the Headache classification of the International Headache society (IHS).	UMLS:C0042376|SCTID:128187005|MESH:D014653	mondo.json	vascular headache	http://purl.obolibrary.org/obo/MONDO_0040797	http://identifiers.org/snomedct/128187005|http://identifiers.org/mesh/D014653|UMLS:C0042376	
GO:0098754	biolink:NamedThing	detoxification	Any process that reduces or removes the toxicity of a toxic substance. These may include transport of the toxic substance away from sensitive areas and to compartments or complexes whose purpose is sequestration of the toxic substance.		mondo.json		http://purl.obolibrary.org/obo/GO_0098754		
MONDO:0003788	biolink:Disease	childhood embryonal testis carcinoma	An embryonal carcinoma that arises from the testis during childhood.	NCIT:C6545|UMLS:C1333007|DOID:6162	mondo.json	childhood testicular embryonal carcinoma|testicular embryonal carcinoma of childhood|pediatric embryonal carcinoma of testis|pediatric embryonal carcinoma of the testis|childhood embryonal carcinoma of the testis|pediatric testicular embryonal carcinoma|childhood embryonal carcinoma of testis	http://purl.obolibrary.org/obo/MONDO_0003788	NCIT:C6545|UMLS:C1333007|DOID:6162	
MONDO:0001125	biolink:Disease	acute gonococcal epididymo-orchitis	Acute form of gonococcal epididymo-orchitis.	ICD9:098.13|SCTID:30168008|UMLS:C0153193|DOID:10802	mondo.json	gonococcal epididymo-orchitis (acute)|gonococcal epididymo-orchitis, acute	http://purl.obolibrary.org/obo/MONDO_0001125	http://identifiers.org/snomedct/30168008|UMLS:C0153193|DOID:10802	
MONDO:0003789	biolink:Disease	hereditary papillary renal cell carcinoma	A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene.	NCIT:C9222|DOID:6163|UMLS:C0879257|Orphanet:47044|OMIM:605074|SCTID:715561008	mondo.json	hereditary papillary renal cell carcinoma|hereditary papillary carcinoma of kidney|hereditary papillary renal cell cancer|hereditary papillary carcinoma of the kidney|renal cell carcinoma, papillary, 1, familial and somatic|familial renal papillary carcinoma|renal cell carcinoma, papillary|hereditary papillary renal carcinoma|hereditary kidney papillary carcinoma	http://purl.obolibrary.org/obo/MONDO_0003789	UMLS:C0879257|Orphanet:47044|DOID:6163|https://omim.org/entry/605074|NCIT:C9222|http://identifiers.org/snomedct/715561008	
MONDO:0001124	biolink:Disease	obsolete filariasis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001124		
MONDO:0001123	biolink:Disease	chronic sphenoidal sinusitis	Inflammation of the sphenoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.	ICD10CM:J32.3|NCIT:C34480|DOID:10793|UMLS:C0008712|ICD9:473.3|SCTID:38961000	mondo.json	chronic sphenoid sinusitis|sphenoidal sinus-chr.|sphenoid sinusitis, chronic	http://purl.obolibrary.org/obo/MONDO_0001123	UMLS:C0008712|DOID:10793|http://identifiers.org/snomedct/38961000|http://purl.bioontology.org/ontology/ICD10CM/J32.3|NCIT:C34480	
MONDO:0001122	biolink:Disease	chronic maxillary sinusitis	Inflammation of the maxillary sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.	UMLS:C0008698|SCTID:35923002|ICD10CM:J32.0|DOID:10792|ICD9:473.0|NCIT:C34477	mondo.json	maxillary sinusitis, chronic|chronic antritis	http://purl.obolibrary.org/obo/MONDO_0001122	DOID:10792|http://purl.bioontology.org/ontology/ICD10CM/J32.0|http://identifiers.org/snomedct/35923002|NCIT:C34477|UMLS:C0008698	
MONDO:0003784	biolink:Disease	nasal cavity carcinoma in situ	A in situ carcinoma that involves the nasal cavity.	DOID:6148|NCIT:C4589|SCTID:92663007|ICD9:231.8|UMLS:C0347095	mondo.json	stage 0 nasal cavity carcinoma aJCC v8|carcinoma in situ of the nasal cavity|stage 0 nasal cavity carcinoma aJCC v7|stage 0 nasal cavity cancer|stage 0 nasal cavity carcinoma aJCC v6|stage 0 carcinoma of nasal cavity|carcinoma in situ of nasal cavity|stage 0 nasal cavity cancer aJCC v6, v7, and v8|stage 0 nasal cavity carcinoma|stage 0 carcinoma of the nasal cavity|nasal cavity carcinoma in situ|carcinoma in situ of nasal cavities|nasal cavity in situ carcinoma	http://purl.obolibrary.org/obo/MONDO_0003784	http://identifiers.org/snomedct/92663007|UMLS:C0347095|NCIT:C4589|DOID:6148	
MONDO:0001129	biolink:Disease	nasal cavity olfactory neuroblastoma	An olfactory neuroblastoma arising in the nasal cavity.	DOID:10812|UMLS:C1334923|NCIT:C7604	mondo.json	olfactory neuroblastoma of nasal cavity|olfactory neuroblastoma of the nasal cavity|nasal cavity olfactory neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0001129	NCIT:C7604|DOID:10812|UMLS:C1334923	
MONDO:0003785	biolink:Disease	leukopenia	A laboratory test result indicating a decreased number of white blood cells in the peripheral blood.	EFO:0004233|SCTID:84828003|UMLS:C0023530|ICD9:288.50|NCIT:C26816|MESH:D007970|DOID:615	mondo.json	White blood cell decreased|leucopenia|leukocytopenia	http://purl.obolibrary.org/obo/MONDO_0003785	UMLS:C0023530|http://identifiers.org/snomedct/84828003|http://identifiers.org/mesh/D007970|NCIT:C26816|DOID:615	
MONDO:0001128	biolink:Disease	nasal cavity cancer	A malignant neoplasm involving the nasal cavity	DOID:10811|UMLS:C0728864|ICD9:160.0|SCTID:363422006|NCIT:C4918	mondo.json	malignant tumor of nasal cavity|malignant neoplasm of nasal cavities|cancer of nasal cavity|malignant tumor of the nasal cavity|malignant neoplasm of nasal cavity|malignant nasal cavity neoplasm|nasal cavity cancer|malignant neoplasm of the nasal cavity|malignant nasal cavity tumor	http://purl.obolibrary.org/obo/MONDO_0001128	http://identifiers.org/snomedct/363422006|UMLS:C0728864|NCIT:C4918|DOID:10811	
MONDO:0003786	biolink:Disease	childhood testicular choriocarcinoma	A choriocarcinoma that arises from the testis during childhood.	UMLS:C1333006|NCIT:C6544|DOID:6160	mondo.json	pediatric choriocarcinoma of the testis|childhood choriocarcinoma of testis|pediatric choriocarcinoma of testis|childhood choriocarcinoma of the testis|choriocarcinoma of testis of childhood|childhood testicular choriocarcinoma|pediatric testicular choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003786	NCIT:C6544|UMLS:C1333006|DOID:6160	
MONDO:0001127	biolink:Disease	tibialis tendinitis	A tendinitis that involves the tibialis.	DOID:10810|ICD9:726.72|SCTID:50127006|UMLS:C0158321	mondo.json	tendinitis of tibialis|tibialis tendinitis	http://purl.obolibrary.org/obo/MONDO_0001127	http://identifiers.org/snomedct/50127006|DOID:10810|UMLS:C0158321	
MONDO:0003787	biolink:Disease	childhood testicular mixed germ cell cancer	A malignant mixed germ cell neoplasm that arises from the testis during childhood.	NCIT:C6542|DOID:6161|UMLS:C1333009	mondo.json	childhood testicular mixed germ cell neoplasm|pediatric mixed testicular germ cell cancer|childhood testicular mixed germ cell tumor|childhood mixed testicular germ cell cancer|pediatric testicular mixed germ cell neoplasm|pediatric testicular mixed germ cell tumor|mixed testicular germ cell cancer of childhood	http://purl.obolibrary.org/obo/MONDO_0003787	NCIT:C6542|UMLS:C1333009|DOID:6161	
MONDO:0001126	biolink:Disease	gastric ulcer	An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall.	NCIT:C3388|ICD10CM:K25|MESH:D013276|ICD9:531|SCTID:397825006|DOID:10808|HP:0002592|UMLS:C0038358	mondo.json	acute gastric ulcer with hemorrhage and obstruction|chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction|acute gastric ulcer with hemorrhage and with perforation but without obstruction|acute gastric ulcer with perforation|chronic gastric ulcer without hemorrhage and without perforation but with obstruction|acute gastric ulcer with hemorrhage and perforation|acute gastric ulcer with hemorrhage, with perforation and with obstruction|acute gastric ulcer with haemorrhage and perforation|acute gastric ulcer without hemorrhage, without perforation and without obstruction|acute gastric ulcer with perforation, with obstruction|peptic ulcer disease of stomach|stomach peptic ulcer disease|acute gastric ulcer with perforation and obstruction|acute gastric ulcer without hemorrhage and without perforation|acute gastric ulcer with hemorrhage and perforation, with obstruction|acute gastric ulcer with hemorrhage, with obstruction|gastric ulcer|acute gastric ulcer with hemorrhage and perforation, without mention of obstruction|gastric ulcer (disease)|bleeding acute gastric ulcer|chronic gastric ulcer without hemorrhage and without perforation|acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction	http://purl.obolibrary.org/obo/MONDO_0001126	http://purl.bioontology.org/ontology/ICD10CM/K25|http://identifiers.org/snomedct/397825006|NCIT:C3388|DOID:10808|http://identifiers.org/mesh/D013276|UMLS:C0038358	
HGNC:7160	biolink:NamedThing	MMP14			mondo.json		http://identifiers.org/hgnc/7160		
NCBITaxon:11229	biolink:OrganismalEntity	Morbillivirus		GC_ID:1	mondo.json	Morbilliviruses	http://purl.obolibrary.org/obo/NCBITaxon_11229		
MONDO:0003780	biolink:Disease	T-cell immunodeficiency	A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective.	UMLS:C1274233|DOID:613|NCIT:C27145|SCTID:402792003	mondo.json	T lymphocyte deficiency|T-lymphocyte deficiency (finding)|T-cell immunodeficiency|T-lymphocyte immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0003780	UMLS:C1274233|http://identifiers.org/snomedct/402792003|NCIT:C27145	
MONDO:0003781	biolink:Disease	bronchitis	An acute or chronic inflammatory process affecting the bronchi.	CSP:2596-1500|DOID:6132|NCIT:C2911|ICD9:466.0|UMLS:C0006277|EFO:0009661|ICD9:491|ICD9:490|SCTID:32398004|ICD9:491.9|MESH:D001991	mondo.json	bronchus inflammation|CI - chest infection|inflammation of bronchus|acute bronchitis|bronchial infection|chest infection|chest cold|acute bronchitis and bronchiolitis|recurrent wheezy bronchitis|chronic bronchitis	http://purl.obolibrary.org/obo/MONDO_0003781	DOID:6132|NCIT:C2911|http://identifiers.org/snomedct/32398004|http://identifiers.org/mesh/D001991|UMLS:C0006277	
MONDO:0003782	biolink:Disease	uterine corpus epithelioid leiomyosarcoma	A morphologic variant of leiomyosarcoma arising from the uterine corpus. It is characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm.	ONCOTREE:UELMS|NCIT:C40174|UMLS:C1519851|DOID:6139	mondo.json	uterine corpus epithelioid leiomyosarcoma|body of uterus epithelioid leiomyosarcoma|epithelioid leiomyosarcoma of body of uterus|uterine epithelioid leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003782	UMLS:C1519851|DOID:6139|NCIT:C40174	
MONDO:0013109	biolink:Disease	leukemia, acute lymphocytic, susceptibility to, 2		UMLS:C2751593|OMIM:613067	mondo.json	leukemia, acute lymphoblastic, susceptibility to, 2|leukemia, acute lymphocytic, susceptibility to, 2|ALL2	http://purl.obolibrary.org/obo/MONDO_0013109	UMLS:C2751593|https://omim.org/entry/613067	predisposition
MONDO:0003783	biolink:Disease	lymphopenia	Reduction in the number of lymphocytes.	SCTID:48813009|UMLS:C0024312|ICD9:288.51|ICD9:288.8|HP:0001888|DOID:614|ICD10CM:D72.810|MESH:D008231	mondo.json	lymphocytopenia|lymphopenia|lymphopenia (disease)	http://purl.obolibrary.org/obo/MONDO_0003783	http://identifiers.org/snomedct/48813009|http://purl.bioontology.org/ontology/ICD10CM/D72.810|http://identifiers.org/mesh/D008231|DOID:614|UMLS:C0024312	
MONDO:0001121	biolink:Disease	frontal sinusitis	An acute or chronic inflammatory process affecting the mucous membrane of the frontal sinus.	MESH:D015522|SCTID:78737005|DOID:10791|NCIT:C34626|UMLS:C0016735	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001121	http://identifiers.org/snomedct/78737005|DOID:10791|UMLS:C0016735|http://identifiers.org/mesh/D015522|NCIT:C34626	
MONDO:0027751	biolink:Disease	obsolete serpinopathy with loss of serpin function		Orphanet:250811	mondo.json		http://purl.obolibrary.org/obo/MONDO_0027751	Orphanet:250811	
GO:0050709	biolink:NamedThing	negative regulation of protein secretion	Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of a protein from a cell.		mondo.json	down-regulation of protein secretion|down regulation of protein secretion|inhibition of protein secretion|downregulation of protein secretion	http://purl.obolibrary.org/obo/GO_0050709		
ENVO:2100000	biolink:NamedThing	anatomical entity environment	An environment which is determined by an anatomical entity.		mondo.json		http://purl.obolibrary.org/obo/ENVO_2100000		
MONDO:0001120	biolink:Disease	chronic frontal sinusitis	Inflammation of the frontal sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.	NCIT:C34473|ICD10CM:J32.1|ICD9:473.1|DOID:10790|UMLS:C0008683|SCTID:60130002	mondo.json	frontal sinusitis, chronic	http://purl.obolibrary.org/obo/MONDO_0001120	DOID:10790|http://purl.bioontology.org/ontology/ICD10CM/J32.1|NCIT:C34473|http://identifiers.org/snomedct/60130002|UMLS:C0008683	
MONDO:0027750	biolink:Disease	obsolete serpinopathy with toxic serpin polymerization		Orphanet:250808	mondo.json		http://purl.obolibrary.org/obo/MONDO_0027750	Orphanet:250808	
GO:0050708	biolink:NamedThing	regulation of protein secretion	Any process that modulates the frequency, rate or extent of the controlled release of a protein from a cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0050708		
MONDO:0015777	biolink:Disease	adult hypothyroidism	A hypothyroidism that occurs in an adult.	Orphanet:177101|UMLS:CN226738	mondo.json	rare adult hypothyroidism	http://purl.obolibrary.org/obo/MONDO_0015777	Orphanet:177101|UMLS:CN226738	ordo_group_of_disorders|disease_grouping
CL:0002265	biolink:Cell	type D cell of colon	A D cell located in the colon.	FMA:268744	mondo.json	colonic delta cell|colon D-cell|delta cell of colon	http://purl.obolibrary.org/obo/CL_0002265		
MONDO:0013114	biolink:Disease	autosomal dominant nonsyndromic hearing loss 50	An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32.	DOID:0110576|OMIM:613074	mondo.json	autosomal dominant deafness 50|autosomal dominant nonsyndromic deafness 50|autosomal dominant nonsyndromic deafness type 50|deafness, autosomal dominant type 50|deafness, autosomal dominant 50|DFNA50	http://purl.obolibrary.org/obo/MONDO_0013114	DOID:0110576|https://omim.org/entry/613074	clingen
CL:0002264	biolink:Cell	type A cell of stomach	A type of enteroendocrine cell found in the stomach that secretes glucagon.	FMA:83411	mondo.json		http://purl.obolibrary.org/obo/CL_0002264		
MONDO:0013115	biolink:Disease	RIN2 syndrome	RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.	UMLS:C2751321|Orphanet:217335|MESH:C567770|OMIM:613075|SCTID:723367005	mondo.json	tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macrocephaly, alopecia, cutis laxa, and scoliosis|MACS syndrome|RIN2 syndrome|RIN2 deficiency	http://purl.obolibrary.org/obo/MONDO_0013115	UMLS:C2751321|https://omim.org/entry/613075|Orphanet:217335|http://identifiers.org/snomedct/723367005|http://identifiers.org/mesh/C567770	ordo_malformation_syndrome
MONDO:0015776	biolink:Disease	rhizomelic chondrodysplasia punctata	Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth.	DOID:2580|OMIMPS:215100|SCTID:56692003|UMLS:C0282529|Orphanet:177|GARD:0013160|NCIT:C85047|ICD10CM:E71.540|MESH:D018902	mondo.json	RCDP|rhizomelic chondrodysplasia punctata|rhizomelic chondrodysplasia punctata syndrome|chondrodysplasia punctata, rhizomelic form|rhizomelic dwarfism	http://purl.obolibrary.org/obo/MONDO_0015776	NCIT:C85047|DOID:2580|http://identifiers.org/mesh/D018902|http://purl.bioontology.org/ontology/ICD10CM/E71.540|http://identifiers.org/snomedct/56692003|https://omim.org/phenotypicSeries/PS215100|Orphanet:177|UMLS:C0282529	ordo_disease|gard_rare
CL:0002267	biolink:Cell	type D cell of stomach	A type D cell found in the stomach.	FMA:83410	mondo.json	stomach delta cell|stomach D-cell|delta cell of stomach	http://purl.obolibrary.org/obo/CL_0002267		
MONDO:0013112	biolink:Disease	bronchiectasis with or without elevated sweat chloride 3	Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1G gene.	MESH:C567772|DOID:0080528|UMLS:C2751324|OMIM:613071	mondo.json	BESC3|bronchiectasis with or without elevated sweat chloride 3|bronchiectasis with or without elevated sweat chloride type 3|SCNN1G bronchiectasis|bronchiectasis caused by mutation in SCNN1G|cystic fibrosis-like syndrome	http://purl.obolibrary.org/obo/MONDO_0013112	UMLS:C2751324|https://omim.org/entry/613071|http://identifiers.org/mesh/C567772|DOID:0080528	
CHEBI:62488	biolink:ChemicalSubstance	signalling molecule	A molecular messenger in which the molecule is specifically involved in transmitting information between cells. Such molecules are released from the cell sending the signal, cross over the gap between cells by diffusion, and interact with specific receptors in another cell, triggering a response in that cell by activating a series of enzyme controlled reactions which lead to changes inside the cell.		mondo.json	signaling molecules|signal molecules|signal molecule|signaling molecule|signalling molecules	http://purl.obolibrary.org/obo/CHEBI_62488		
MONDO:0015775	biolink:Disease	non-rhizomelic chondrodysplasia punctata	Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.	Orphanet:176	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015775	Orphanet:176	ordo_group_of_disorders|disease_grouping
MONDO:0013113	biolink:Disease	metaphyseal anadysplasia 2	Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene.	MESH:C567771|OMIM:613073|UMLS:C2751322	mondo.json	metaphyseal anadysplasia type 2|metaphyseal anadysplasia caused by mutation in MMP9|MMP9 metaphyseal anadysplasia|MANDP2|metaphyseal anadysplasia 2	http://purl.obolibrary.org/obo/MONDO_0013113	UMLS:C2751322|https://omim.org/entry/613073|http://identifiers.org/mesh/C567771	
MONDO:0015774	biolink:Disease	thoraco-abdominal enteric duplication	Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or malena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported.	SCTID:733628001|Orphanet:1759|GARD:0005181	mondo.json	thoraco abdominal enteric duplication	http://purl.obolibrary.org/obo/MONDO_0015774	http://identifiers.org/snomedct/733628001|Orphanet:1759	ordo_malformation_syndrome|gard_rare
CL:0002266	biolink:Cell	type D cell of small intestine	A type D cell of the small intestine.	FMA:268736	mondo.json	delta cell of small intestine|small intestine D-cell|small intestine delta cell	http://purl.obolibrary.org/obo/CL_0002266		
MONDO:0013118	biolink:Disease	Nijmegen breakage syndrome-like disorder	Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.	Orphanet:240760|OMIM:613078|NCIT:C153178|SCTID:766753005|UMLS:C2751318|MESH:C567767	mondo.json	NBSLD|microcephaly and chromosomal instability without immunodeficiency|RAD50 deficiency|Rad50 deficiency|microcephaly and spontaneous chromosome instability without immunodeficiency|Nijmegen breakage syndrome-like disorder|NBs-like disorder	http://purl.obolibrary.org/obo/MONDO_0013118	UMLS:C2751318|Orphanet:240760|https://omim.org/entry/613078|NCIT:C153178|http://identifiers.org/snomedct/766753005|http://identifiers.org/mesh/C567767	ordo_malformation_syndrome
MONDO:0013119	biolink:Disease	autosomal recessive nonsyndromic hearing loss 77	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene.	OMIM:613079|MESH:C567543|DOID:0110525|UMLS:C2746083	mondo.json	deafness, autosomal recessive type 77|DFNB77|deafness, autosomal recessive 77|LOXHD1 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 77|autosomal recessive nonsyndromic deafness 77|autosomal recessive deafness 77|autosomal recessive nonsyndromic deafness caused by mutation in LOXHD1	http://purl.obolibrary.org/obo/MONDO_0013119	UMLS:C2746083|DOID:0110525|https://omim.org/entry/613079|http://identifiers.org/mesh/C567543	
MONDO:0013116	biolink:Disease	congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome		Orphanet:330054|UMLS:C2751320|OMIM:613076|MESH:C567769|GARD:0010522	mondo.json	congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome|myopathy, mitochondrial progressive, with congenital cataract and developmental delay|myopathy with cataract and combined respiratory-chain deficiency|myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay|mitochondrial Complex deficiency, combined|myopathy with cataract and combined respiratory chain deficiency|congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome	http://purl.obolibrary.org/obo/MONDO_0013116	Orphanet:330054|UMLS:C2751320|https://omim.org/entry/613076|http://identifiers.org/mesh/C567769	ordo_disease
MONDO:0015779	biolink:Disease	45,X/46,XY mixed gonadal dysgenesis	45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.	Orphanet:1772|UMLS:C0018055|DOID:0080656|NCIT:C120199	mondo.json	45,X0/46,XY mixed gonadal dysgenesis|45,X/46,XY disorder of Sex development|45,X0/46,XY MGD|XY/X0|45,X/46,XY gonadal dysgenesis|Mixed gonadal dysgenesis|45,X/46,XY MGD	http://purl.obolibrary.org/obo/MONDO_0015779	NCIT:C120199|DOID:0080656|Orphanet:1772	ordo_malformation_syndrome
MONDO:0013117	biolink:Disease	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene.	OMIM:613077|UMLS:C2751319|MESH:C567768|DOID:0111518	mondo.json	PEOA5|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 5|RRM2B progressive external ophthalmoplegia with mitochondrial DNA deletions|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5|progressive external ophthalmoplegia, autosomal dominant 5|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RRM2B	http://purl.obolibrary.org/obo/MONDO_0013117	DOID:0111518|UMLS:C2751319|https://omim.org/entry/613077|http://identifiers.org/mesh/C567768	
MONDO:0015778	biolink:Disease	syndromic hypothyroidism	A hypothyroidism that is part of a larger syndrome.	UMLS:CN226739|Orphanet:177107	mondo.json	syndromic hypothyroidism|syndrome associated with hypothyroidism	http://purl.obolibrary.org/obo/MONDO_0015778	Orphanet:177107|UMLS:CN226739	ordo_group_of_disorders|disease_grouping
HGNC:12372	biolink:NamedThing	TSHB			mondo.json		http://identifiers.org/hgnc/12372		
HGNC:12371	biolink:NamedThing	RSPH1			mondo.json		http://identifiers.org/hgnc/12371		
MONDO:0040728	biolink:Disease	Campylobacter fetus infectious disease		SCTID:111835002|UMLS:C0275979	mondo.json	infection caused by vibrio fetus|infection caused by Campylobacter fetus|infection by vibrio fetus|infection by Campylobacter fetus	http://purl.obolibrary.org/obo/MONDO_0040728	UMLS:C0275979|http://identifiers.org/snomedct/111835002	
HGNC:7165	biolink:NamedThing	MMP19			mondo.json		http://identifiers.org/hgnc/7165		
HGNC:12370	biolink:NamedThing	CEP41			mondo.json		http://identifiers.org/hgnc/12370		
MONDO:0001119	biolink:Disease	premature menopause	Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive.	ICD9:256.31|SCTID:237788002|ICD9:256.39|DOID:10787|NCIT:C80099|MESH:D008594|UMLS:C0025322	mondo.json	early menopause|menopause praecox|POF|premature menopause|premature ovarian failure|menopause - premature	http://purl.obolibrary.org/obo/MONDO_0001119	NCIT:C80099|UMLS:C0025322|http://identifiers.org/mesh/D008594|http://identifiers.org/snomedct/237788002|DOID:10787	
MONDO:0015773	biolink:Disease	fibular dimelia-diplopodia syndrome	Fibular dimelia-diplopodia syndrome is a rare developmental anomaly.	UMLS:CN200350|Orphanet:1757|SCTID:720953006	mondo.json	leg duplication-mirror foot syndrome	http://purl.obolibrary.org/obo/MONDO_0015773	http://identifiers.org/snomedct/720953006|UMLS:CN200350|Orphanet:1757	ordo_malformation_syndrome
MONDO:0013110	biolink:Disease	neurodegenerative syndrome due to cerebral folate transport deficiency		OMIM:613068|DOID:0050719|MESH:C567791|SCTID:711403001|ICD9:266.2|Orphanet:217382|GARD:0010594	mondo.json	cerebral folate transport deficiency|neurodegeneration due to cerebral folate TRANSPORT deficiency|neurodegenerative syndrome due to cerebral folate transport deficiency|cerebral folate deficiency syndrome|cerebral folate receptor alpha deficiency	http://purl.obolibrary.org/obo/MONDO_0013110	http://identifiers.org/snomedct/711403001|https://omim.org/entry/613068|Orphanet:217382|http://identifiers.org/mesh/C567791|DOID:0050719	ordo_disease
HGNC:7167	biolink:NamedThing	MMP20			mondo.json		http://identifiers.org/hgnc/7167		
CL:0002261	biolink:Cell	endothelial cell of viscerocranial mucosa	An endothelial cell found in the mucosa associated with the facial skeleton.	FMA:70627	mondo.json		http://purl.obolibrary.org/obo/CL_0002261		
MONDO:0013111	biolink:Disease	acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.	UMLS:C3278664|GARD:0010593|Orphanet:217371|OMIM:613070	mondo.json	LFIT|transient infantile liver failure|acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins|acute infantile liver failure|liver failure, transient infantile|infantile liver failure caused by mutation in TRMU|liver failure, infantile, transient|TRMU infantile liver failure|acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	http://purl.obolibrary.org/obo/MONDO_0013111	UMLS:C3278664|https://omim.org/entry/613070|Orphanet:217371	ordo_disease
MONDO:0015772	biolink:Disease	trisomy 8q	Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size.	GARD:0005362|MESH:C538020|Orphanet:1752|NCIT:C36428|UMLS:C0795829	mondo.json	8q duplication|partial trisomy 8q|Duplication 8q|trisomy type 8q|chromosome 8q duplication|8q trisomy	http://purl.obolibrary.org/obo/MONDO_0015772	http://identifiers.org/mesh/C538020|UMLS:C0795829|Orphanet:1752	ordo_malformation_syndrome
CL:0002260	biolink:Cell	epithelial cell of parathyroid gland	An epithelial cell of the parathyroid gland.	FMA:70547	mondo.json		http://purl.obolibrary.org/obo/CL_0002260		
HGNC:7166	biolink:NamedThing	MMP2			mondo.json		http://identifiers.org/hgnc/7166		
MONDO:0015771	biolink:Disease	mosaic trisomy 7	Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.	GARD:0005354|Orphanet:1747|SCTID:764630003|UMLS:CN036006|MESH:C537822	mondo.json	trisomy 7 mosaicism|Mosaic trisomy chromosome 7|Mosaic trisomy type 7	http://purl.obolibrary.org/obo/MONDO_0015771	http://identifiers.org/snomedct/764630003|Orphanet:1747|http://identifiers.org/mesh/C537822|UMLS:CN036006	gard_rare|ordo_malformation_syndrome
MONDO:0015770	biolink:Disease	congenital hypogonadotropic hypogonadism	Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH).	Orphanet:174590|ICD10CM:E23.0|SCTID:722944006|NCIT:C120162|UMLS:C3899503	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015770	http://identifiers.org/snomedct/722944006|NCIT:C120162|UMLS:C3899503|Orphanet:174590	ordo_group_of_disorders|disease_grouping
CL:0002262	biolink:Cell	endothelial cell of sinusoid	An endothelial cell that lines any of the venous cavities through which blood passes in various glands and organs such as the spleen and liver.	FMA:63134	mondo.json		http://purl.obolibrary.org/obo/CL_0002262		
HGNC:12373	biolink:NamedThing	TSHR			mondo.json		http://identifiers.org/hgnc/12373		
MONDO:0003799	biolink:Disease	conjunctivitis	Inflammation of the conjunctiva of the eye.	UMLS:C0009763|MESH:D003231|ICD9:372.30|ICD9:372.39|HP:0000509|DOID:6195|NCIT:C34504|SCTID:9826008	mondo.json	conjunctivitis|conjunctivitis (disease)|conjunctiva inflammation|inflammation of conjunctiva|pink eye|Madras eye	http://purl.obolibrary.org/obo/MONDO_0003799	http://identifiers.org/mesh/D003231|http://identifiers.org/snomedct/9826008|DOID:6195|NCIT:C34504|UMLS:C0009763	
MONDO:0001136	biolink:Disease	chylocele of tunica vaginalis		UMLS:C0156315|ICD9:608.84|SCTID:7864001|DOID:10835	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001136	UMLS:C0156315|DOID:10835|http://identifiers.org/snomedct/7864001	
NCBITaxon:11232	biolink:OrganismalEntity	Canine morbillivirus		GC_ID:1	mondo.json	canine distemper virus CDV|Canine distemper virus|CDV	http://purl.obolibrary.org/obo/NCBITaxon_11232		
MONDO:0001135	biolink:Disease	voyeurism	A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving observing an unsuspecting person who is naked, disrobing, or engaging in sexual activity.	MESH:D014843|NCIT:C94360|SCTID:63835008|ICD10CM:F65.3|ICD9:302.82|DOID:10834	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001135	http://identifiers.org/snomedct/63835008|http://purl.bioontology.org/ontology/ICD10CM/F65.3|DOID:10834|NCIT:C94360|http://identifiers.org/mesh/D014843	
NCBITaxon:11234	biolink:OrganismalEntity	Measles morbillivirus		GC_ID:1	mondo.json	Cell-associated subacute sclerosing panencephalitis|subacute sclerose panencephalitis virus|rougeole virus|subacute sclerosing panencephalitis virus, SSPEV|Subacute sclerosing panencephalitis virus|Measles virus|measles virus MV|rubeola virus	http://purl.obolibrary.org/obo/NCBITaxon_11234		
MONDO:0001134	biolink:Disease	essential hypertension	Hypertension that presents without an identifiable cause.	SCTID:59621000|EFO:1002032|UMLS:C0085580|Orphanet:243761|ICD9:401.9|MESH:D000075222|ICD9:401|DOID:10825	mondo.json	primary hypertension|idiopathic hypertension	http://purl.obolibrary.org/obo/MONDO_0001134	http://identifiers.org/mesh/D000075222|DOID:10825|http://identifiers.org/snomedct/59621000|UMLS:C0085580|Orphanet:243761	
MONDO:0001133	biolink:Disease	malignant essential hypertension	Essential hypertension with rapid progression to severe high blood pressure, papilledema, and renal failure.	UMLS:C0024588|SCTID:78975002|DOID:10823|ICD9:401.0	mondo.json	malignant essential hypertension|accelerated essential hypertension	http://purl.obolibrary.org/obo/MONDO_0001133	http://identifiers.org/snomedct/78975002|DOID:10823|UMLS:C0024588	
MONDO:0003795	biolink:Disease	ovarian small cell carcinoma	A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type.	DOID:6179|UMLS:C2212006|ONCOTREE:SCCO|NCIT:C27390|EFO:1000431|Orphanet:370396|GARD:0010411	mondo.json	ovarian small cell neuroendocrine carcinoma|ovarian small cell cancer|small cell ovarian carcinoma|ovarian small cell carcinoma|ovarian small cell NEC|small cell carcinoma of ovary|small cell carcinoma of the ovary|ovary small cell carcinoma|SCCO	http://purl.obolibrary.org/obo/MONDO_0003795	NCIT:C27390|Orphanet:370396|DOID:6179|UMLS:C2212006	ordo_disease
MONDO:0027749	biolink:Disease	serpinopathy		Orphanet:250805	mondo.json		http://purl.obolibrary.org/obo/MONDO_0027749	Orphanet:250805	disease_grouping|ordo_group_of_disorders
MONDO:0001139	biolink:Disease	sexual masochism disorder	A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the act (real, not simulated) of being humiliated, beaten, bound, or otherwise made to suffer.	ICD9:302.83|MESH:D008398|NCIT:C94356|DOID:10849|SCTID:51239001|ICD10CM:F65.51	mondo.json	sexual masochism	http://purl.obolibrary.org/obo/MONDO_0001139	http://identifiers.org/snomedct/51239001|DOID:10849|http://purl.bioontology.org/ontology/ICD10CM/F65.51|NCIT:C94356|http://identifiers.org/mesh/D008398	
MONDO:0003796	biolink:Disease	rectum Kaposi sarcoma	A Kaposi sarcoma arising from the rectum.	UMLS:C1335681|NCIT:C5550|DOID:6190	mondo.json	rectal Kaposi's sarcoma|rectum Kaposi's sarcoma (disease)|rectum Kaposi's sarcoma|Kaposi's sarcoma (disease) of rectum|rectum Kaposi sarcoma|rectal Kaposi sarcoma|Kaposi's sarcoma of the rectum|Kaposi's sarcoma of rectum	http://purl.obolibrary.org/obo/MONDO_0003796	NCIT:C5550|UMLS:C1335681|DOID:6190	
MONDO:0001138	biolink:Disease	angiodysplasia of intestine	A angiodysplasia that involves the intestine.	SCTID:235853006|UMLS:C0267367|ICD9:569.85|DOID:10846|ICD9:569.84	mondo.json	intestine angiodysplasia	http://purl.obolibrary.org/obo/MONDO_0001138	http://identifiers.org/snomedct/235853006|DOID:10846|UMLS:C0267367	
MONDO:0003797	biolink:Disease	obsolete inflammatory MFH			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003797		
MONDO:0001137	biolink:Disease	Murray valley encephalitis	An disease caused by infection with Murray Valley encephalitis virus.	DOID:10842|SCTID:66454007|ICD10CM:A83.4|ICD9:062.4|UMLS:C0153066	mondo.json	Murray Valley encephalitis virus disease or disorder|Murray Valley encephalitis virus infectious disease|Murray Valley encephalitis virus caused disease or disorder|Australian encephalitis|Australian X disease	http://purl.obolibrary.org/obo/MONDO_0001137	UMLS:C0153066|DOID:10842|http://purl.bioontology.org/ontology/ICD10CM/A83.4|http://identifiers.org/snomedct/66454007	
MONDO:0003798	biolink:Disease	obsolete epithelioid sarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003798		
MONDO:0003791	biolink:Disease	prostatic urethral cancer	A male urethral cancer that involves the prostatic urethra.	DOID:6167|UMLS:C1514523|NCIT:C39870	mondo.json	prostatic urethra male urethral cancer|prostatic urethral malignant neoplasm|male urethral cancer of prostatic urethra	http://purl.obolibrary.org/obo/MONDO_0003791	NCIT:C39870|DOID:6167|UMLS:C1514523	
MONDO:0003792	biolink:Disease	ovarian carcinosarcoma	A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements.	ONCOTREE:OCS|EFO:1000412|GARD:0007296|DOID:6170|Orphanet:213512|UMLS:C0392998|NCIT:C9192|SCTID:702368000	mondo.json	ovarian malignant mixed mesodermal (Mullerian) tumor|ovarian malignant mixed Müllerian tumor|carcinosarcoma of the ovary|malignant mixed mesodermal Müllerian tumor of the ovary|carcinosarcoma of ovary|ovarian malignant mesodermal (Müllerian) mixed tumor|ovarian malignant mixed epithelial mesenchymal tumor|malignant mixed mesodermal Müllerian tumor of ovary|ovarian malignant mixed Mullerian neoplasm|malignant mixed mesodermal Müllerian neoplasm of the ovary|ovarian malignant mixed mesodermal Müllerian tumor|malignant mixed mesodermal Müllerian neoplasm of ovary|ovarian carcinosarcoma/malignant mixed mesodermal tumor|ovarian MMMT|ovarian malignant mixed mesodermal Müllerian neoplasm|ovarian malignant mesodermal (mullerian) mixed tumor|ovarian carcinosarcoma|ovarian malignant mixed mesodermal (Müllerian) tumor|malignant mixed mesodermal Mullerian tumor of the ovary|ovarian malignant mesodermal (Mullerian) mixed tumor|malignant mixed mesodermal Mullerian tumor of ovary|MMMT of the ovary|malignant mixed Müllerian tumor of the ovary|ovarian malignant mixed Mullerian tumor|ovarian malignant mixed Müllerian neoplasm|malignant mixed mesodermal Mullerian neoplasm of the ovary|ovary carcinosarcoma|malignant mixed mesodermal Mullerian neoplasm of ovary|ovarian malignant mixed mesodermal Mullerian tumor|ovarian malignant mixed mesodermal Mullerian neoplasm	http://purl.obolibrary.org/obo/MONDO_0003792	DOID:6170|UMLS:C0392998|NCIT:C9192|http://identifiers.org/snomedct/702368000|Orphanet:213512	ordo_disease
GO:0050714	biolink:NamedThing	positive regulation of protein secretion	Any process that activates or increases the frequency, rate or extent of the controlled release of a protein from a cell.		mondo.json	upregulation of protein secretion|up-regulation of protein secretion|up regulation of protein secretion|activation of protein secretion|stimulation of protein secretion	http://purl.obolibrary.org/obo/GO_0050714		
MONDO:0003793	biolink:Disease	obsolete uterine carcinosarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003793		
MONDO:0003794	biolink:Disease	obsolete mediastinal neurilemmoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003794		
MONDO:0001132	biolink:Disease	sexual sadism disorder	A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving acts (real, not simulated) in which the psychological or physical suffering of a victim is sexually exciting to the individual.	NCIT:C94358|DOID:10817|MESH:D012448|ICD10CM:F65.52|SCTID:59394009|ICD9:302.84	mondo.json	sexual sadism	http://purl.obolibrary.org/obo/MONDO_0001132	http://identifiers.org/snomedct/59394009|DOID:10817|http://purl.bioontology.org/ontology/ICD10CM/F65.52|NCIT:C94358|http://identifiers.org/mesh/D012448	
MONDO:0001131	biolink:Disease	obsolete duodenum adenocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001131		
MONDO:0001130	biolink:Disease	nasal cavity lymphoma	A primary lymphoma that affects the nasal cavity and the bulk of the tumor is in this anatomic area.	UMLS:C1334921|DOID:10813|NCIT:C6074	mondo.json	nasal cavity lymphoma|primary nasal cavity lymphoma|lymphoma of nasal cavity|lymphoma of the nasal cavity	http://purl.obolibrary.org/obo/MONDO_0001130	DOID:10813|UMLS:C1334921|NCIT:C6074	
MONDO:0003790	biolink:Disease	prostatic urethra urothelial carcinoma	An urothelial carcinoma that arises from the urothelial lining of the prostatic urethra.	DOID:6166|NCIT:C39900|UMLS:C1514522	mondo.json	prostatic urethra urothelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0003790	NCIT:C39900|DOID:6166|UMLS:C1514522	
MONDO:0015766	biolink:Disease	cholera	Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated.	UMLS:C0008354|ICD9:001.0|MedDRA:10008631|ICD10CM:A00|SCTID:63650001|GARD:0006043|Orphanet:173|ICD9:001.9|MESH:D002771|ICD9:001|DOID:1498	mondo.json	Vibrio cholerae infection|cholera due to Vibrio cholerae|Vibrio cholerae infectious disease|Vibrio cholerae caused disease or disorder|Vibrio cholerae|cholera - Vibrio cholerae|Vibrio cholerae disease or disorder	http://purl.obolibrary.org/obo/MONDO_0015766	DOID:1498|http://identifiers.org/snomedct/63650001|http://identifiers.org/mesh/D002771|Orphanet:173|UMLS:C0008354|http://purl.bioontology.org/ontology/ICD10CM/A00	ordo_disease|gard_rare
MONDO:0013103	biolink:Disease	epilepsy, idiopathic generalized, susceptibility to, 10	An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the GABRD gene.	DOID:0111292|OMIM:613060	mondo.json	epilepsy, idiopathic generalized, 10|epilepsy, juvenile myoclonic, susceptibility to, 7|susceptibility to idiopathic generalized epilepsy 10|GEFSP5, susceptibility to|generalized epilepsy with febrile seizures plus, type 5, susceptibility to|GEFS+, type 5, susceptibility to|epilepsy, idiopathic generalized, susceptibility to, type 10|GEFS+5, susceptibility to|epilepsy, juvenile myoclonic, susceptibility to|epilepsy, idiopathic generalized, susceptibility to, 10|EIG10	http://purl.obolibrary.org/obo/MONDO_0013103	DOID:0111292|https://omim.org/entry/613060	predisposition
CL:0002275	biolink:Cell	pancreatic PP cell	A PP cell located in the islets of the pancreas.	FMA:70588|BTO:0000805	mondo.json	PP-cell of pancreatic islet|PP cell of pancreatic islet|pancreatic polypeptide-secreting cell	http://purl.obolibrary.org/obo/CL_0002275		
MONDO:0015765	biolink:Disease	congenital myopathy with cores		Orphanet:172976	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015765	Orphanet:172976	ordo_group_of_disorders|disease_grouping
MONDO:0040732	biolink:Disease	Pseudomonas aeruginosa infectious disease		SCTID:11218009|UMLS:C0276075	mondo.json	infection caused by Pseudomonas aeruginosa|infection due to Pseudomonas aeruginosa	http://purl.obolibrary.org/obo/MONDO_0040732	UMLS:C0276075|http://identifiers.org/snomedct/11218009	
MONDO:0013104	biolink:Disease	basal cell carcinoma, susceptibility to, 4		UMLS:C2751602|OMIM:613061	mondo.json	basal cell carcinoma, susceptibility to, 4|BCC4	http://purl.obolibrary.org/obo/MONDO_0013104	UMLS:C2751602|https://omim.org/entry/613061	predisposition
MONDO:0015764	biolink:Disease	mosaic trisomy 20	Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.	Orphanet:1724	mondo.json	Mosaic trisomy type 20|Mosaic trisomy chromosome 20	http://purl.obolibrary.org/obo/MONDO_0015764	Orphanet:1724	ordo_malformation_syndrome
MONDO:0013101	biolink:Disease	basal cell carcinoma, susceptibility to, 2		OMIM:613058|UMLS:C2751606	mondo.json	basal cell carcinoma, susceptibility to, 2|BCC2	http://purl.obolibrary.org/obo/MONDO_0013101	https://omim.org/entry/613058|UMLS:C2751606	predisposition
MONDO:0015763	biolink:Disease	mosaic trisomy 2	Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported.	GARD:0005331|SCTID:764623009|UMLS:CN073991|Orphanet:1723	mondo.json	Mosaic trisomy type 2|trisomy 2 mosaicism|Mosaic trisomy chromosome 2	http://purl.obolibrary.org/obo/MONDO_0015763	http://identifiers.org/snomedct/764623009|Orphanet:1723|UMLS:CN073991	ordo_malformation_syndrome
MONDO:0013102	biolink:Disease	basal cell carcinoma, susceptibility to, 3		OMIM:613059|UMLS:C2751605	mondo.json	basal cell carcinoma, susceptibility to, 3|BCC3	http://purl.obolibrary.org/obo/MONDO_0013102	UMLS:C2751605|https://omim.org/entry/613059	predisposition
MONDO:0013107	biolink:Disease	atopic dermatitis 7	An atopic dermatitis associated with variation in the region 11q13.5.	MESH:C567796|DOID:0110103|OMIM:613064|UMLS:C2751599	mondo.json	atopic dermatitis type 7|ATOD7|dermatitis, ATOPIC, 7|dermatitis, atopic, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0013107	http://identifiers.org/mesh/C567796|DOID:0110103|UMLS:C2751599|https://omim.org/entry/613064	
MONDO:0013108	biolink:Disease	leukemia, acute lymphocytic, susceptibility to, 1		OMIM:613065|UMLS:C2751595	mondo.json	leukemia, acute lymphoblastic, B-Hyperdiploid, susceptibility to|ALL|All1|leukemia, T-cell acute lymphocytic, somatic|leukemia, T-cell acute lymphoblastic, susceptibility to|T-cell acute lymphoblastic leukemia, somatic|leukemia, acute lymphoblastic, susceptibility to, 1|leukemia, B-cell acute lymphoblastic, susceptibility to|leukemia, acute lymphocytic, susceptibility to, 1|leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic|leukemia, acute lymphoblastic, somatic|leukemia, T-cell acute lymphoblastic, somatic|leukemia, acute lymphoblastic	http://purl.obolibrary.org/obo/MONDO_0013108	UMLS:C2751595|https://omim.org/entry/613065	predisposition
MONDO:0015769	biolink:Disease	distal trisomy 6p	Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.	SCTID:722430008|Orphanet:1745|UMLS:C4302551	mondo.json	telomeric duplication 6p|distal duplication 6p|distal trisomy type 6p|trisomy 6pter	http://purl.obolibrary.org/obo/MONDO_0015769	Orphanet:1745|UMLS:C4302551|http://identifiers.org/snomedct/722430008	ordo_malformation_syndrome
MONDO:0015768	biolink:Disease	trisomy 5p	Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit.	GARD:0006093|Orphanet:1742	mondo.json	5p duplication|trisomy of the short arm of chromosome 5|partial trisomy 5p|Duplication 5p|chromosome 5p duplication|trisomy type 5p|5p trisomy|Duplication of the short arm of chromosome 5	http://purl.obolibrary.org/obo/MONDO_0015768	Orphanet:1742	ordo_malformation_syndrome
MONDO:0013105	biolink:Disease	basal cell carcinoma, susceptibility to, 5		UMLS:C2751601|OMIM:613062	mondo.json	basal cell carcinoma, susceptibility to, 5|BCC5	http://purl.obolibrary.org/obo/MONDO_0013105	https://omim.org/entry/613062|UMLS:C2751601	predisposition
MONDO:0015767	biolink:Disease	trisomy 4p	Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.	GARD:0006091|MESH:C537643|Orphanet:1738	mondo.json	trisomy type 4p|chromosome 4p duplication|Duplication of the short arm of chromosome 4|4p trisomy|trisomy of the short arm of chromosome 4|4p duplication|Duplication 4p|partial trisomy 4p	http://purl.obolibrary.org/obo/MONDO_0015767	Orphanet:1738|http://identifiers.org/mesh/C537643	ordo_malformation_syndrome
MONDO:0013106	biolink:Disease	basal cell carcinoma, susceptibility to, 6		UMLS:C2751600|OMIM:613063	mondo.json	basal cell carcinoma, susceptibility to, 6|BCC6	http://purl.obolibrary.org/obo/MONDO_0013106	UMLS:C2751600|https://omim.org/entry/613063	predisposition
HGNC:7173	biolink:NamedThing	MMP3			mondo.json		http://identifiers.org/hgnc/7173		
HGNC:12382	biolink:NamedThing	TSPYL1			mondo.json		http://identifiers.org/hgnc/12382		
HGNC:7176	biolink:NamedThing	MMP9			mondo.json		http://identifiers.org/hgnc/7176		
MONDO:0015762	biolink:Disease	progressive familial intrahepatic cholestasis	Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	NCIT:C84453|OMIMPS:211600|Orphanet:172|UMLS:C0268312|DOID:0070221	mondo.json	cholestasis, progressive familial intrahepatic|PFIC	http://purl.obolibrary.org/obo/MONDO_0015762	https://omim.org/phenotypicSeries/PS211600|NCIT:C84453|DOID:0070221|UMLS:C0268312|Orphanet:172	ordo_disease
MONDO:0015761	biolink:Disease	trisomy 10p	Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10.	UMLS:C4082793|GARD:0005299|Orphanet:171929|MESH:C538290|SCTID:717157006	mondo.json	Duplication 10p|10p duplication|trisomy type 10p|chromosome 10p duplication|partial trisomy 10p|10p trisomy	http://purl.obolibrary.org/obo/MONDO_0015761	http://identifiers.org/snomedct/717157006|UMLS:C4082793|Orphanet:171929|http://identifiers.org/mesh/C538290	ordo_malformation_syndrome
MONDO:0013100	biolink:Disease	atrial fibrillation, familial, 8		UMLS:C2751607|OMIM:613055|MESH:C567802	mondo.json	atrial fibrillation, familial, 8|ATFB8	http://purl.obolibrary.org/obo/MONDO_0013100	UMLS:C2751607|https://omim.org/entry/613055|http://identifiers.org/mesh/C567802	
MONDO:0015760	biolink:Disease	T-cell non-Hodgkin lymphoma	A non-Hodgkin lymphoma of T-cell lineage. It includes the T lymphoblastic lymphoma and the mature T- and NK-cell lymphomas. -- 2003	NCIT:C3466|UMLS:C0079772|SCTID:109978004|ICD9:202.70|MedDRA:10042971|Orphanet:171918|MESH:D016399	mondo.json	T-cell and NK-cell non-Hodgkin's lymphoma|non-Hodgkin's T-cell lymphoma|T-cell and NK-cell non-Hodgkin lymphoma|T-cell lymphoma|T-cell NHL|T-cell non-Hodgkin's lymphoma|T cell lymphoma|T-cell non-Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0015760	http://identifiers.org/snomedct/109978004|http://identifiers.org/mesh/D016399|NCIT:C3466|Orphanet:171918|UMLS:C0079772	disease_grouping|ordo_group_of_disorders
CL:0002274	biolink:Cell	histamine secreting cell	A cell type that secretes histamine.		mondo.json		http://purl.obolibrary.org/obo/CL_0002274		
HGNC:7179	biolink:NamedThing	ALDH6A1			mondo.json		http://identifiers.org/hgnc/7179		
MONDO:0001103	biolink:Disease	giardiasis	An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact.	UMLS:C0017536|SCTID:10679007|MESH:D005873|ICD9:007.1|DOID:10718	mondo.json	Giardia infection|Giardiases|Lambliases|infection by Giardia lamblia|lambliasis|infections, Giardia|Giardia|beaver feaver	http://purl.obolibrary.org/obo/MONDO_0001103	http://identifiers.org/mesh/D005873|UMLS:C0017536|http://identifiers.org/snomedct/10679007|DOID:10718	
MONDO:0003766	biolink:Disease	thalamic cancer	A cancer involving a dorsal plus ventral thalamus.	SCTID:188287005|NCIT:C4576|UMLS:C0346902|DOID:6098	mondo.json	malignant neoplasm of the thalamus|malignant thalamus tumor|thalamic neoplasm|malignant dorsal plus ventral thalamus neoplasm|cancer of dorsal plus ventral thalamus|malignant tumor of thalamus|malignant thalamus neoplasms|malignant thalamic tumor|malignant thalamic neoplasms|malignant neoplasm of thalamus|malignant thalamic neoplasm|malignant neoplasm of dorsal plus ventral thalamus|malignant tumor of the thalamus|malignant thalamic tumors|malignant thalamus neoplasm|tumor of thalamus|dorsal plus ventral thalamus cancer|malignant thalamus tumors	http://purl.obolibrary.org/obo/MONDO_0003766	http://identifiers.org/snomedct/188287005|NCIT:C4576|DOID:6098|UMLS:C0346902	
MONDO:0001102	biolink:Disease	obsolete chronic endophthalmitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001102		
MONDO:0003767	biolink:Disease	mitral valve disorder	A disease involving the mitral valve.	ICD9:424.0|ICD9:394.9|UMLS:C0026265|ICD9:394.1|DOID:61|SCTID:11851006|ICD9:394|NCIT:C78446|UMLS:C2939153	mondo.json	mitral RH valve dis.|mitral valve disorder|chronic rheumatic mitral valve|disease of mitral valve|rheumatic mitral valve regurgitation|mitral valve disease or disorder|rheumatic mitral valve changes|disorder of mitral valve|disease or disorder of mitral valve|rheumatic mitral insufficiency|rheumatic disease of mitral valve|rheumatic mitral valve incompetence|mitral valve disease	http://purl.obolibrary.org/obo/MONDO_0003767	UMLS:C2939153|DOID:61|NCIT:C78446|UMLS:C0026265|http://identifiers.org/snomedct/11851006	
MONDO:0003768	biolink:Disease	signet ring cell variant cervical mucinous adenocarcinoma	A rare cervical mucinous adenocarcinoma characterized by the presence of signet ring cells.	NCIT:C40205|DOID:6101|ONCOTREE:SCEMU|UMLS:C1516424	mondo.json	cervical mucinous adenocarcinoma, signet Ring cell variant|cervical mucinous adenocarcinoma, signet Ring cell type|signet ring mucinous carcinoma	http://purl.obolibrary.org/obo/MONDO_0003768	UMLS:C1516424|NCIT:C40205|DOID:6101	
MONDO:0001101	biolink:Disease	fat necrosis of breast	Localized necrosis of the adipose tissue in the breast. Clinically, it may present as a mass. Causes include injury, surgical procedures, and radiation treatment.	ICD9:611.3|ICD10CM:N64.1|NCIT:C3661|SCTID:21381006|UMLS:C0156321|DOID:10691	mondo.json	breast fat necrosis|fat Necrosis of the breast	http://purl.obolibrary.org/obo/MONDO_0001101	http://identifiers.org/snomedct/21381006|UMLS:C0156321|DOID:10691|NCIT:C3661|http://purl.bioontology.org/ontology/ICD10CM/N64.1	
MONDO:0001100	biolink:Disease	hypertrophy of breast	Excessive enlargement of one or both breasts. Causes include pregnancy, obesity, and penicillamine therapy. It may result in neck, back, and shoulder pain.	ICD10CM:N62|DOID:10688|SCTID:372281005|NCIT:C3125|ICD9:611.1|GARD:0009450	mondo.json	large breast|macromastia|breast Hypertrophy|breasts enlarged|hypertrophy of the breast|gestational gigantomastia (subtype)|idiopathic gigantomastia (subtype)|drug-induced gigantomastia (subtype)|puberty-induced gigantomastia (subtype)|juvenile gigantomastia (subtype)|medication-induced gigantomastia (subtype)|gigantomastia|pregnancy-induced gigantomastia (subtype)	http://purl.obolibrary.org/obo/MONDO_0001100	http://purl.bioontology.org/ontology/ICD10CM/N62|http://identifiers.org/snomedct/372281005|DOID:10688|NCIT:C3125	
MONDO:0003769	biolink:Disease	herpetic gastritis	Gastritis resulting from herpes virus.	NCIT:C27341|DOID:6102|UMLS:C1333996	mondo.json	Herpesviridae caused viral gastritis|Herpesviridae viral gastritis	http://purl.obolibrary.org/obo/MONDO_0003769	UMLS:C1333996|NCIT:C27341|DOID:6102	
MONDO:0003762	biolink:Disease	malignant leptomeningeal tumor	A primary or metastatic malignant tumor involving the leptomeninges.	UMLS:C1334596|DOID:6086|NCIT:C8506	mondo.json	malignant tumor of leptomeninges|cancer of leptomeninx|leptomeningeal cancer|malignant neoplasm of the leptomeninges|malignant neoplasm of leptomeninges|malignant leptomeningeal neoplasm|malignant leptomeningeal tumor|malignant neoplasm of leptomeninx|malignant tumor of the leptomeninges|leptomeninx cancer|malignant leptomeninx neoplasm	http://purl.obolibrary.org/obo/MONDO_0003762	NCIT:C8506|DOID:6086|UMLS:C1334596	
MONDO:0001107	biolink:Disease	obsolete cerebral lipidosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001107		
MONDO:0001106	biolink:Disease	kidney failure	An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood.	ICD9:586|NCIT:C4376|UMLS:C0035078|MESH:D051437|DOID:1074|ICD9:404.13|ICD9:404.12|UMLS:C1565489|SCTID:42399005	mondo.json	failure, renal|renal failure|renal failure syndrome|renal insufficiency	http://purl.obolibrary.org/obo/MONDO_0001106	http://identifiers.org/snomedct/42399005|UMLS:C0035078|UMLS:C1565489|DOID:1074|http://identifiers.org/mesh/D051437|NCIT:C4376	
MONDO:0003763	biolink:Disease	acute stress disorder	An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month.	NCIT:C92621|ICD9:308.9|EFO:0005223|ICD10CM:F43.0|DOID:6088|Wikipedia:Acute_stress_reaction|ICD9:308.3|SCTID:67195008|MESH:D000068099	mondo.json	acute stress reaction|traumatic stress disorder	http://purl.obolibrary.org/obo/MONDO_0003763	NCIT:C92621|http://purl.bioontology.org/ontology/ICD10CM/F43.0|http://identifiers.org/snomedct/67195008|DOID:6088|http://identifiers.org/mesh/D000068099	
HGNC:7180	biolink:NamedThing	MN1			mondo.json		http://identifiers.org/hgnc/7180		
MONDO:0001105	biolink:Disease	renal hypertension	Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries.	EFO:1002039|MESH:D006977|SCTID:28119000|DOID:1073|UMLS:C0020544	mondo.json	renovascular hypertension	http://purl.obolibrary.org/obo/MONDO_0001105	DOID:1073|http://identifiers.org/mesh/D006977|UMLS:C0020544|http://identifiers.org/snomedct/28119000	
HGNC:24338	biolink:NamedThing	C1GALT1C1			mondo.json		http://identifiers.org/hgnc/24338		
MONDO:0003764	biolink:Disease	pediatric leptomeningeal melanoma	A melanoma that arises from leptomeningeal melanocytes and occurs in childhood.	DOID:6089|NCIT:C5318|UMLS:C1332976	mondo.json	childhood leptomeningeal melanoma|childhood meningeal melanoma|pediatric meningeal melanoma	http://purl.obolibrary.org/obo/MONDO_0003764	UMLS:C1332976|NCIT:C5318|DOID:6089	
MONDO:0003765	biolink:Disease	adult leptomeningeal melanoma	A melanoma that arises from leptomeningeal melanocytes and occurs in adulthood.	DOID:6090|NCIT:C5319|UMLS:C1332204	mondo.json	adult leptomeningeal melanoma|melanoma of adult leptomeninges|melanoma of the adult leptomeninges|adult meningeal melanoma	http://purl.obolibrary.org/obo/MONDO_0003765	NCIT:C5319|DOID:6090|UMLS:C1332204	
NCBITaxon:1399768	biolink:OrganismalEntity	Basidiobolomycetes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1399768		
MONDO:0001104	biolink:Disease	toxic diffuse goiter		ICD9:242.00|SCTID:267374005|DOID:10719	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001104	DOID:10719|http://identifiers.org/snomedct/267374005	
GO:0050727	biolink:NamedThing	regulation of inflammatory response	Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents.		mondo.json		http://purl.obolibrary.org/obo/GO_0050727		
GO:0050728	biolink:NamedThing	negative regulation of inflammatory response	Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response.		mondo.json	anti-inflammatory response|down-regulation of inflammatory response|down regulation of inflammatory response|downregulation of inflammatory response|inhibition of inflammatory response	http://purl.obolibrary.org/obo/GO_0050728		
MONDO:0003760	biolink:Disease	pediatric ovarian germ cell tumor	A germ cell tumor that arises from the ovary and occurs in children.	NCIT:C8588|UMLS:C0796664|DOID:6084	mondo.json	childhood ovarian germ cell tumor|pediatric ovarian germ cell tumor|ovarian germ cell tumor|ovarian germ cell tumor of childhood|childhood ovarian germ cell neoplasm|pediatric ovarian germ cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0003760	NCIT:C8588|DOID:6084|UMLS:C0796664	
MONDO:0015749	biolink:Disease	6q16 deletion syndrome	Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.	UMLS:CN200301|Orphanet:171829	mondo.json	monosomy 6q16|Prader-Willi-like syndrome due to deletion 6q16|Del(6)(q16)	http://purl.obolibrary.org/obo/MONDO_0015749	Orphanet:171829|UMLS:CN200301	ordo_clinical_subtype
MONDO:0003761	biolink:Disease	leptomeningeal melanoma	A melanoma that arises from leptomeningeal melanocytes.	UMLS:C1334386|NCIT:C5317|DOID:6085|SCTID:277530005	mondo.json	melanoma (disease) of leptomeninx|leptomeninx melanoma (disease)|melanoma of the leptomeninges|malignant melanoma of meninges|leptomeningeal melanoma|leptomeninx melanoma|meningeal melanoma|melanoma of leptomeninges	http://purl.obolibrary.org/obo/MONDO_0003761	http://identifiers.org/snomedct/277530005|NCIT:C5317|UMLS:C1334386|DOID:6085	
GO:0050729	biolink:NamedThing	positive regulation of inflammatory response	Any process that activates or increases the frequency, rate or extent of the inflammatory response.		mondo.json	up regulation of inflammatory response|activation of inflammatory response|stimulation of inflammatory response|upregulation of inflammatory response|up-regulation of inflammatory response	http://purl.obolibrary.org/obo/GO_0050729		
CL:0002243	biolink:Cell	smooth muscle cell of sphincter of pupil	A circular smooth muscle cell of the iris, innervated by the ciliary nerves (parasympathetic), and acting to contract the pupil. This muscle cell derives from neuroectoderm. This smooth muscle cell results from transformation of epithelial cells to smooth muscle cells.	FMA:70611	mondo.json	smooth muscle fibre of sphincter of pupil|smooth muscle fiber of sphincter of pupil	http://purl.obolibrary.org/obo/CL_0002243		
MONDO:0015755	biolink:Disease	myopathy with hexagonally cross-linked tubular arrays	Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.	Orphanet:171889|SCTID:764994007	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015755	http://identifiers.org/snomedct/764994007|Orphanet:171889	ordo_disease
CL:0002242	biolink:Cell	nucleate cell	A cell containing at least one nucleus.	FMA:67513	mondo.json		http://purl.obolibrary.org/obo/CL_0002242		
MONDO:0015754	biolink:Disease	obsolete cylindrical spirals myopathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015754		
MONDO:0015753	biolink:Disease	cap myopathy	Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.	UMLS:C3710589|GARD:0011915|OMIM:609285|OMIM:609284|SCTID:703532002|MESH:C579969|Orphanet:171881	mondo.json	Cap disease|congenital myopathy with caps	http://purl.obolibrary.org/obo/MONDO_0015753	http://identifiers.org/mesh/C579969|UMLS:C3710589|http://identifiers.org/snomedct/703532002|Orphanet:171881	ordo_disease|gard_rare
MONDO:0037105	biolink:Disease	lung germ cell tumor	A germ cell tumor that arises from the lung.	NCIT:C45636|UMLS:C1708771	mondo.json	lung germ cell neoplasm|lung germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0037105	UMLS:C1708771|NCIT:C45636	
MONDO:0015752	biolink:Disease	intellectual disability-cataracts-kyphosis syndrome	This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence.	Orphanet:171860|UMLS:CN226733	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015752	Orphanet:171860|UMLS:CN226733	ordo_disease
MONDO:0015759	biolink:Disease	B-cell non-Hodgkin lymphoma	The most common type of non-Hodgkin lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003	Orphanet:171915|NCIT:C3457	mondo.json	B-cell non-Hodgkin's lymphoma|B-cell non-Hodgkin lymphoma|B-cell NHL|non-Hodgkin's lymphoma B-cell|lymphomas non-Hodgkin's B-cell|non-Hodgkin's B-cell lymphoma|B-cell non Hodgkin's lymphoma|B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0015759	NCIT:C3457|Orphanet:171915	disease_grouping|ordo_group_of_disorders
MONDO:0015758	biolink:Disease	primary cutaneous T-cell lymphoma		GARD:0006226|Orphanet:171901|MESH:D016410|MedDRA:10011677	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015758	Orphanet:171901	disease_grouping|ordo_group_of_disorders
CL:0002246	biolink:Cell	peripheral blood stem cell	A hematopoeitic stem cell found in the blood. Normally found in very limited numbers in the peripheral circulation (less than 0.1% of all nucleated cells).	BTO:0002669|FMA:86711	mondo.json	PBSC	http://purl.obolibrary.org/obo/CL_0002246		
MONDO:0015757	biolink:Disease	lymphoid hemopathy		Orphanet:171898	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015757	Orphanet:171898	disease_grouping|ordo_group_of_disorders
MONDO:0015756	biolink:Disease	myeloid hemopathy		Orphanet:171895	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015756	Orphanet:171895	ordo_group_of_disorders|disease_grouping
ENVO:03000009	biolink:NamedThing	material accumulation process	A process during which the mass of one or more materials, present within a given site, increases.		mondo.json		http://purl.obolibrary.org/obo/ENVO_03000009		
ENVO:03000008	biolink:NamedThing	compaction process	A physical process during which atoms, molecules, or other consituents of a material entity are forced closer together.		mondo.json		http://purl.obolibrary.org/obo/ENVO_03000008		
MONDO:0003759	biolink:Disease	childhood ovarian yolk sac tumor	A yolk sac tumor that arises from the ovary and occurs in children.	DOID:6083|UMLS:C1332993|NCIT:C6551	mondo.json	pediatric ovarian yolk Sac neoplasm|childhood ovarian endodermal sinus tumor|childhood ovarian yolk sac tumor|childhood ovarian endodermal sinus neoplasm|pediatric ovarian endodermal sinus neoplasm|pediatric ovarian yolk Sac tumor|pediatric ovarian endodermal sinus tumor|childhood ovarian yolk Sac neoplasm|ovary childhood endodermal sinus tumor	http://purl.obolibrary.org/obo/MONDO_0003759	DOID:6083|UMLS:C1332993|NCIT:C6551	
MONDO:0015751	biolink:Disease	craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome	Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.	UMLS:C3267187|SCTID:720815000|Orphanet:171839	mondo.json	Berant syndrome|familial scaphocephaly-radioulnar synostosis syndrome|Capra-DeMarco syndrome	http://purl.obolibrary.org/obo/MONDO_0015751	http://identifiers.org/snomedct/720815000|Orphanet:171839|UMLS:C3267187	ordo_malformation_syndrome
MONDO:0015750	biolink:Disease	obsolete amelogenesis imperfecta-gingival hyperplasia syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015750		
SO:0001785	biolink:SequenceFeature	structural_alteration	An alteration of the genome that leads to a change in the structure of one or more chromosomes.		mondo.json	structural alteration	http://purl.obolibrary.org/obo/SO_0001785		
CL:0002241	biolink:Cell	pulmonary interstitial fibroblast	A fibroblasts found in interstitial spaces in the pulmonary tract. Greater numbers of these cells are found in idiopathic pulmonary fibrosis.	FMA:84467	mondo.json	pulmonary septal cell|pulmonary myofibroblast	http://purl.obolibrary.org/obo/CL_0002241		
CL:0002240	biolink:Cell	marrow fibroblast	A fibroblast in the bone marrow.	FMA:84377	mondo.json		http://purl.obolibrary.org/obo/CL_0002240		
MONDO:0001114	biolink:Disease	bacterial myocarditis	Myocarditis that is caused by an infection with a bacterial agent.	ICD10CM:I40.0|DOID:10779|SCTID:64043005|UMLS:C1384588|NCIT:C128380|UMLS:C0155690|ICD9:422.92	mondo.json	septic myocarditis	http://purl.obolibrary.org/obo/MONDO_0001114	NCIT:C128380|UMLS:C1384588|UMLS:C0155690|http://purl.bioontology.org/ontology/ICD10CM/I40.0|DOID:10779|http://identifiers.org/snomedct/64043005	
MONDO:0003777	biolink:Disease	renal pelvis urothelial papilloma	A benign neoplasm of the renal pelvis that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma.	NCIT:C4528|UMLS:C1514844|DOID:6119	mondo.json	renal pelvis urothelial papilloma	http://purl.obolibrary.org/obo/MONDO_0003777	NCIT:C4528|DOID:6119|UMLS:C1514844	
MONDO:0003778	biolink:Disease	inborn errors of immunity	A disorder in which the immune system is unable to mount an adequate immune response.	SCTID:58606001|DOID:612|SCTID:234532001|NCIT:C3131|MESH:D007153|KEGG:05340|UMLS:C0398686|ICD9:279.3|UMLS:C0021051|Orphanet:101997	mondo.json	deficiency syndromes, antibody|syndromes, immunological deficiency|deficiency syndromes, immunologic|syndrome, immunological deficiency|deficiency syndrome, antibody|deficiency syndrome, immunological|syndrome, antibody deficiency|immunological deficiency syndromes|syndromes, antibody deficiency|syndromes, immunologic deficiency|syndrome, immunologic deficiency|hypoimmunity|deficiency syndromes, immunological|antibody deficiency syndrome|primary immunodeficiency|immune deficiency disorder|immunologic deficiency syndrome|IEI|immunodeficiency syndrome|antibody deficiency syndromes|deficiency syndrome, immunologic|primary immunodeficiency disease|immunological deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0003778	DOID:612|http://identifiers.org/mesh/D007153|UMLS:C0021051	ordo_group_of_disorders|disease_grouping
MONDO:0001113	biolink:Disease	Fiedler's myocarditis		DOID:10778|ICD10CM:I40.1|UMLS:C0155689|ICD9:422.91|SCTID:266238009	mondo.json	isolated (Fiedler's) myocarditis|fiedler myocarditis|idiopathic myocarditis	http://purl.obolibrary.org/obo/MONDO_0001113	UMLS:C0155689|http://purl.bioontology.org/ontology/ICD10CM/I40.1|http://identifiers.org/snomedct/266238009|DOID:10778	
MONDO:0001112	biolink:Disease	bubonic plague	A plague in which the bacteria have infected the lymphatic system.	ICD9:020.0|DOID:10773|UMLS:C0282312|GARD:0000183|ICD10CM:A20.0|SCTID:50797007	mondo.json	black death	http://purl.obolibrary.org/obo/MONDO_0001112	http://purl.bioontology.org/ontology/ICD10CM/A20.0|DOID:10773|UMLS:C0282312|http://identifiers.org/snomedct/50797007	gard_rare
MONDO:0003779	biolink:Disease	obsolete gliomatosis cerebri			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003779		
SO:0001784	biolink:SequenceFeature	complex_structural_alteration	A structural sequence alteration or rearrangement encompassing one or more genome fragments, with 4 or more breakpoints.		mondo.json	complex chromosomal mutation|complex_chromosomal_mutation|complex	http://purl.obolibrary.org/obo/SO_0001784		
HGNC:7190	biolink:NamedThing	MOCS1			mondo.json		http://identifiers.org/hgnc/7190		
MONDO:0001111	biolink:Disease	obsolete thrombotic thrombocytopenic purpura			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001111		
MONDO:0001118	biolink:Disease	Queensland tick typhus	A spotted fever that has material basis in Rickettsia australis, which is transmitted by ticks (Ixodes holocyclus). The infection has symptom fever, has symptom headache, has symptom myalgia, has symptom maculopapular rash, and has symptom lymphadenopathy.	UMLS:C2979888|SCTID:68981009|DOID:10784|ICD9:082.3	mondo.json	Rickettsia australis spotted fever|North Queensland tick typhus|Australian tick typhus	http://purl.obolibrary.org/obo/MONDO_0001118	http://identifiers.org/snomedct/68981009|DOID:10784|UMLS:C2979888	
MONDO:0003773	biolink:Disease	intracerebral cystic meningioma	A cystic meningioma that grows within the cerebral hemispheres.	DOID:6113|NCIT:C5269|UMLS:C1334236	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003773	NCIT:C5269|UMLS:C1334236|DOID:6113	
MONDO:0003774	biolink:Disease	cerebral convexity meningioma	A meningioma that affects the cerebral sulcus.	NCIT:C4959|DOID:6114|UMLS:C0751303	mondo.json	cerebral hemispheric convexity meningioma	http://purl.obolibrary.org/obo/MONDO_0003774	UMLS:C0751303|NCIT:C4959|DOID:6114	
MONDO:0001117	biolink:Disease	methemoglobinemia	An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood.	NCIT:C34817|UMLS:C0025637|ICD9:289.7|DOID:10783|MedDRA:10027496|MESH:D008708|SCTID:38959009	mondo.json	methemoglobinemias	http://purl.obolibrary.org/obo/MONDO_0001117	NCIT:C34817|UMLS:C0025637|http://identifiers.org/mesh/D008708|http://identifiers.org/snomedct/38959009|http://identifiers.org/meddra/10027496|DOID:10783	
MONDO:0003775	biolink:Disease	lateral ventricle meningioma	A meningioma that affects the lateral ventricle of the brain.	DOID:6115|NCIT:C5302|UMLS:C1334380	mondo.json	meningioma (disease) of telencephalic ventricle|meningioma of the lateral ventricle|telencephalic ventricle meningioma (disease)|meningioma of lateral ventricle	http://purl.obolibrary.org/obo/MONDO_0003775	NCIT:C5302|UMLS:C1334380|DOID:6115	
MONDO:0001116	biolink:Disease	mesenteric lymphadenitis	Inflammation of the mesenteric lymph nodes.	ICD9:289.2|NCIT:C26830|SCTID:44897000|MESH:D008640|DOID:10782|UMLS:C0025469	mondo.json	mesenteric adenitis|mesentery lymphadenitis (disease)|lymphadenitis (disease) of mesentery|mesenteric lymphadenitis	http://purl.obolibrary.org/obo/MONDO_0001116	UMLS:C0025469|http://identifiers.org/mesh/D008640|http://identifiers.org/snomedct/44897000|NCIT:C26830|DOID:10782	
NCBITaxon:11216	biolink:OrganismalEntity	Human respirovirus 3		GC_ID:1	mondo.json	human parainfluenza virus type 3 PIV3|Human parainfluenza virus type 3|parainfluenza virus type 3 PIV-3|Human parainfluenza virus 3|Human parainfluenza 3 virus|Parainfluenza virus type 3|human parainfluenza virus 3 HPIV3|human parainfluenza virus|HPIV3|HPIV-3	http://purl.obolibrary.org/obo/NCBITaxon_11216		
MONDO:0003776	biolink:Disease	renal pelvis inverted papilloma	A neoplasm of the renal pelvis in which the epithelial cells grow downward into the underlying supportive tissue.	DOID:6118|UMLS:C1335751|NCIT:C6187	mondo.json	kidney pelvis inverted papilloma|inverted papilloma of renal pelvis|inverted papilloma of the renal pelvis|inverted papilloma of the kidney pelvis|inverted papilloma of kidney pelvis|renal pelvis inverted papilloma	http://purl.obolibrary.org/obo/MONDO_0003776	NCIT:C6187|UMLS:C1335751|DOID:6118	
MONDO:0001115	biolink:Disease	familial polycythemia	Polycythemia that occurs in groups of related individuals.	OMIMPS:133100|DOID:10780|ICD9:289.6|NCIT:C26955	mondo.json	primary polycythemia|erythrocytosis, familial|familial polycythemia|hereditary polycythemia (disease)	http://purl.obolibrary.org/obo/MONDO_0001115	https://omim.org/phenotypicSeries/PS133100|NCIT:C26955|DOID:10780	
HGNC:7193	biolink:NamedThing	MOCS2			mondo.json		http://identifiers.org/hgnc/7193		
MONDO:0003770	biolink:Disease	thoracic spinal canal and spinal cord meningioma	A meningioma that arises from the meninges of the thoracic region of the spinal cord.	DOID:6103|UMLS:C1336738|NCIT:C5297	mondo.json	meningioma of thoracic spinal canal and spinal cord|meningioma of the thoracic spinal canal and spinal cord|thoracic intraspinal meningioma	http://purl.obolibrary.org/obo/MONDO_0003770	NCIT:C5297|UMLS:C1336738|DOID:6103	
MONDO:0003771	biolink:Disease	jugular foramen meningioma	A meningioma that affects the jugular foramen.	DOID:6110|UMLS:C1334298|NCIT:C5293	mondo.json	meningioma of the jugular Foramen|jugular foramen meningioma (disease)|meningioma of jugular Foramen|meningioma (disease) of jugular foramen	http://purl.obolibrary.org/obo/MONDO_0003771	NCIT:C5293|UMLS:C1334298|DOID:6110	
MONDO:0015739	biolink:Disease	adult-onset nemaline myopathy	Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.	GARD:0012824|Orphanet:171442|UMLS:C0546123	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015739	Orphanet:171442|UMLS:C0546123	ordo_disease|gard_rare
MONDO:0003772	biolink:Disease	cerebral meningioma	A meningioma that affects the cerebral hemispheres.	NCIT:C4807|DOID:6112|SCTID:189164002|UMLS:C0542564	mondo.json	cerebral hemispheric meningioma|meningioma of cerebral hemispheres|meningioma of the cerebral hemispheres|meningioma of the cerebrum|telencephalon meningioma (disease)|meningioma (disease) of telencephalon|meningioma of cerebrum	http://purl.obolibrary.org/obo/MONDO_0003772	NCIT:C4807|DOID:6112|http://identifiers.org/snomedct/189164002|UMLS:C0542564	
MONDO:0015738	biolink:Disease	childhood-onset nemaline myopathy	Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.	GARD:0007171|Orphanet:171439	mondo.json	mild nemaline myopathy	http://purl.obolibrary.org/obo/MONDO_0015738	Orphanet:171439	gard_rare|ordo_disease
MONDO:0001110	biolink:Disease	chronic pyelonephritis	Persistent pyelonephritis.	UMLS:C0085697|DOID:1076|NCIT:C123216|SCTID:63302006|ICD9:590.0	mondo.json	pyelonephritis, chronic	http://purl.obolibrary.org/obo/MONDO_0001110	DOID:1076|NCIT:C123216|http://identifiers.org/snomedct/63302006|UMLS:C0085697	
ENVO:03000010	biolink:NamedThing	material transport process	A process during which material is displaced from its original location and transported either to a new location or back to the original location.		mondo.json		http://purl.obolibrary.org/obo/ENVO_03000010		
CL:0002254	biolink:Cell	epithelial cell of small intestine	An epithelial cell of the small intestine.	FMA:256159	mondo.json		http://purl.obolibrary.org/obo/CL_0002254		
MONDO:0015744	biolink:Disease	distal trisomy 19q	Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.	SCTID:766052008|Orphanet:1717	mondo.json	distal duplication 19q|telomeric duplication 19q|distal trisomy type 19q|trisomy 19qter	http://purl.obolibrary.org/obo/MONDO_0015744	Orphanet:1717|http://identifiers.org/snomedct/766052008	ordo_malformation_syndrome
MONDO:0015743	biolink:Disease	idiopathic bilateral vestibulopathy	Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo.	SCTID:737580004|UMLS:C4545229|Orphanet:171684	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015743	http://identifiers.org/snomedct/737580004|Orphanet:171684|UMLS:C4545229	ordo_disease
CL:0002253	biolink:Cell	epithelial cell of large intestine	An epithelial cell of the large intestine.	FMA:256157|BTO:0004297	mondo.json	epithelial cell of colon	http://purl.obolibrary.org/obo/CL_0002253		
CL:0002256	biolink:Cell	supporting cell of carotid body	A supportive cell that has characteristics of glial cell. Processes of this cell envelope the junctions between glomus cells and nerve endings.	FMA:84188	mondo.json	carotid body sustentacular cell	http://purl.obolibrary.org/obo/CL_0002256		
MONDO:0040753	biolink:Disease	latent tuberculosis infection	Mycobacterium tuberculosis infection that does not induce infectious expression of the disease in the affected person, although it can cause continuous immune response generated towards TB antigens; person having LTBI are asymptomatic and acting as a reservoir of active tuberculosis tuberculosis cases and Mycobacterium tuberculosis and run a 5-10% risk of reactivating tuberculosis throughout their lives.	SCTID:11999007|UMLS:C1609538|MESH:D055985	mondo.json	inactive tuberculosis|tuberculosis infection latent|inactive TB|LTBI	http://purl.obolibrary.org/obo/MONDO_0040753	http://identifiers.org/mesh/D055985|UMLS:C1609538|http://identifiers.org/snomedct/11999007	
MONDO:0015742	biolink:Disease	periventricular leukomalacia	Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to thearea around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy, delayed mental development, coordination problems, and vision and hearing impairments. There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles.	MedDRA:10052594|EFO:1001101|SCTID:230769007|UMLS:C0023529|GARD:0010285|DOID:13088|ICD9:742.8|Orphanet:171676|ICD9:779.7|NCIT:C99013|MESH:D007969	mondo.json	PVL	http://purl.obolibrary.org/obo/MONDO_0015742	NCIT:C99013|DOID:13088|http://identifiers.org/snomedct/230769007|UMLS:C0023529|http://identifiers.org/mesh/D007969|Orphanet:171676	ordo_disease|gard_rare
HGNC:12367	biolink:NamedThing	TSFM			mondo.json		http://identifiers.org/hgnc/12367		
CL:0002255	biolink:Cell	stromal cell of endometrium	Connective tissue cells of the endometrium, these cells are fibroblastic in appearance. During decidualization they tranform into decidual (stromal) cells, swellling up and adopt an epithelial cell-like appearance due to the accumulation of glycogen and lipid droplets.	CALOHA:TS-1266|FMA:86490	mondo.json	endometrial stromal cell	http://purl.obolibrary.org/obo/CL_0002255		
MONDO:0015741	biolink:Disease	distal trisomy 18q		Orphanet:1716	mondo.json	distal duplication 18q|telomeric duplication 18q|distal trisomy type 18q|trisomy 18qter	http://purl.obolibrary.org/obo/MONDO_0015741	Orphanet:1716	ordo_malformation_syndrome
MONDO:0015748	biolink:Disease	hereditary mucosal leukokeratosis	White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.	Orphanet:171723|DOID:0050448|OMIMPS:193900|NCIT:C84760|ICD9:528.6|UMLS:C1721005|GARD:0008501|SCTID:389203001|MESH:D053529	mondo.json	white sponge nevus of Cannon|hereditary mucosal leukokeratosis|white sponge nevus|White sponge nevus of Cannon	http://purl.obolibrary.org/obo/MONDO_0015748	DOID:0050448|https://omim.org/phenotypicSeries/PS193900|UMLS:C1721005|http://identifiers.org/mesh/D053529|NCIT:C84760|http://identifiers.org/snomedct/389203001|Orphanet:171723	ordo_disease
CL:0002258	biolink:Cell	thyroid follicular cell	A cell type that varies from squamous to columnar, depending on their activity with microvillus directed luminally. This cell produces and secretes thyroid hormones.	FMA:68782|CALOHA:TS-1285|BTO:0003736	mondo.json	principal cell of thyroid gland|follicular cell of thyroid gland|thyroid gland follicular cell	http://purl.obolibrary.org/obo/CL_0002258		
ENVO:03000015	biolink:NamedThing	geographic basin	A depression which is part of a planetary crust, is of geographic scale, and is partially or completely enclosed.		mondo.json		http://purl.obolibrary.org/obo/ENVO_03000015		
MONDO:0015747	biolink:Disease	obsolete Amish infantile epilepsy syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015747		
CL:0002257	biolink:Cell	epithelial cell of thyroid gland	An epithelial cell of thyroid gland.	FMA:256167	mondo.json		http://purl.obolibrary.org/obo/CL_0002257		
MONDO:0015746	biolink:Disease	male infertility due to globozoospermia	Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent.	GARD:0012502|Orphanet:171709|DOID:0111156	mondo.json	male infertility due to globozoospermia|male infertility due to round-headed spermatozoa|round-headed sperm syndrome|globozoospermia|Male infertility due to round-headed spermatozoa	http://purl.obolibrary.org/obo/MONDO_0015746	DOID:0111156|Orphanet:171709	ordo_clinical_subtype
MONDO:0015745	biolink:Disease	microcephaly-polymicrogyria-corpus callosum agenesis syndrome	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality.	Orphanet:171703|UMLS:CN200295	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015745	UMLS:CN200295|Orphanet:171703	ordo_malformation_syndrome
MONDO:0001109	biolink:Disease	petrositis	Inflammation of petrous bone.	ICD9:383.2|ICD9:383.22|DOID:10755|UMLS:C0155448|ICD10CM:H70.2|MESH:D059270|ICD9:383.21|SCTID:28593007|ICD9:383.20	mondo.json	chronic petrositis|petrous part of temporal bone inflammation|inflammation of petrous bone|inflammation of petrous part of temporal bone|acute petrositis	http://purl.obolibrary.org/obo/MONDO_0001109	http://purl.bioontology.org/ontology/ICD10CM/H70.2|UMLS:C0155448|http://identifiers.org/mesh/D059270|http://identifiers.org/snomedct/28593007|DOID:10755	
MONDO:0001108	biolink:Disease	broad ligament malignant neoplasm	A malignant neoplasm involving the broad ligament of uterus.	DOID:10744|SCTID:449259009|ICD9:183.3|UMLS:C0346866	mondo.json	malignant neoplasm of broad ligament of uterus|broad ligament of uterus cancer|malignant broad ligament of uterus neoplasm|cancer of broad ligament of uterus	http://purl.obolibrary.org/obo/MONDO_0001108	UMLS:C0346866|http://identifiers.org/snomedct/449259009|DOID:10744	
HGNC:7197	biolink:NamedThing	MOG			mondo.json		http://identifiers.org/hgnc/7197		
MONDO:0015740	biolink:Disease	trisomy 18p	Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy.	MESH:C538307|GARD:0005323|Orphanet:1715	mondo.json	trisomy of the short arm of chromosome 18|Duplication 18p|trisomy type 18p|chromosome 18p duplication|partial trisomy 18p|Duplication of the short arm of chromosome 18|18p trisomy|18p duplication	http://purl.obolibrary.org/obo/MONDO_0015740	Orphanet:1715|http://identifiers.org/mesh/C538307	ordo_malformation_syndrome
CL:0002252	biolink:Cell	epithelial cell of esophagus	An epithelial cell of the esophagus.	FMA:63071	mondo.json		http://purl.obolibrary.org/obo/CL_0002252		
HGNC:12363	biolink:NamedThing	TSC2			mondo.json		http://identifiers.org/hgnc/12363		
CL:0002251	biolink:Cell	epithelial cell of alimentary canal	An epithelial cell of the musculomembranous digestive tube extending from the mouth to the anus.		mondo.json		http://purl.obolibrary.org/obo/CL_0002251		
HGNC:12362	biolink:NamedThing	TSC1			mondo.json		http://identifiers.org/hgnc/12362		
MONDO:0025136	biolink:Disease	tuberculosis, bovine	An infection of cattle caused by mycobacterium bovis. It is transmissible to man and other animals.	MESH:D014380|UMLS:C0041307|EFO:1001441	mondo.json	Tuberculoses, bovine|bovine Tuberculoses|bovine tuberculosis	http://purl.obolibrary.org/obo/MONDO_0025136	http://identifiers.org/mesh/D014380|UMLS:C0041307	
MONDO:0001169	biolink:Disease	spastic monoplegia	A spastic cerebral palsy that affects only one limb.	ICD9:343.3|DOID:10968|UMLS:C0154698	mondo.json	monoplegic infantile cerebral palsy|spastic monoplegic cerebral palsy|infantile monoplegic cerebral palsy	http://purl.obolibrary.org/obo/MONDO_0001169	UMLS:C0154698|DOID:10968	
MONDO:0001168	biolink:Disease	spastic hemiplegia	A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body.	ICD9:343.1|DOID:10967|UMLS:C0270805|NCIT:C116905|SCTID:79633009|ICD9:342.10	mondo.json	hemiplegic infantile cerebral palsy|congenital hemiplegia|hemiplegic cerebral palsy|spastic hemiplegic cerebral palsy	http://purl.obolibrary.org/obo/MONDO_0001168	http://identifiers.org/snomedct/79633009|DOID:10967|UMLS:C0270805|NCIT:C116905	
NCBITaxon:11266	biolink:OrganismalEntity	Filoviridae		GC_ID:1	mondo.json	Filovirus	http://purl.obolibrary.org/obo/NCBITaxon_11266		
MONDO:0025135	biolink:Disease	tuberculosis, avian	A variety of tuberculosis affecting various birds, including chickens and ducks. It is caused by mycobacterium avium and characterized by tubercles consisting principally of epithelioid cells.	MESH:D014379|UMLS:C0041306|EFO:1001440	mondo.json	Tuberculoses, Avian|Avian Tuberculoses|Avian tuberculosis	http://purl.obolibrary.org/obo/MONDO_0025135	http://identifiers.org/mesh/D014379|UMLS:C0041306	
MONDO:0001167	biolink:Disease	spastic diplegia	A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy.	ICD9:343.0|SCTID:58193001|NCIT:C34781|UMLS:C0270804|MESH:C537945|SCTID:281411007|DOID:10965|GARD:0009637	mondo.json	Little's disease|cerebral palsy spastic diplegic|cerebral spastic infantile paralysis|diplegic infantile cerebral palsy|infantile spastic cerebral palsy|Little disease|infantile diplegic cerebral palsy	http://purl.obolibrary.org/obo/MONDO_0001167	DOID:10965|http://identifiers.org/snomedct/281411007|http://identifiers.org/snomedct/58193001|UMLS:C0270804|http://identifiers.org/mesh/C537945|NCIT:C34781	gard_rare
MONDO:0025138	biolink:Disease	vesicular exanthema of swine	A calicivirus infection of swine characterized by hydropic degeneration of the oral and cutaneous epithelia.	UMLS:C0042584|MESH:D014720	mondo.json	swine vesicular Exanthemas|swine vesicular exanthema	http://purl.obolibrary.org/obo/MONDO_0025138	http://identifiers.org/mesh/D014720|UMLS:C0042584	
MONDO:0001166	biolink:Disease	nephritis	Inflammation of renal tissue.	NCIT:C26833|MESH:D009393|ICD9:583.9|ICD9:583.7|ICD9:583.89|SCTID:52845002|DOID:10952|UMLS:C0027697	mondo.json	inflammation of kidney|kidney inflammation	http://purl.obolibrary.org/obo/MONDO_0001166	NCIT:C26833|DOID:10952|UMLS:C0027697|http://identifiers.org/mesh/D009393|http://identifiers.org/snomedct/52845002	
MONDO:0025139	biolink:Disease	white muscle disease	A myodegeneration most frequent in calves and lambs whose dams have been fed during gestation or longer on feeds, especially legumes (fabaceae), grown in certain areas where selenium is either deficient or unavailable in the soil. It has been recorded in many countries. It has been produced experimentally in several species of animals on low-selenium intake. A similar myopathy occurs naturally in goats, deer, foals, and dogs but proof of the etiology is lacking. (Merck Veterinary Manual, 5th ed)	MESH:D014912|UMLS:C0043153	mondo.json	muscle disease, White|disease, White muscle|diseases, White muscle|muscle diseases, White|White muscle diseases	http://purl.obolibrary.org/obo/MONDO_0025139	UMLS:C0043153|http://identifiers.org/mesh/D014912	
GO:0050746	biolink:NamedThing	regulation of lipoprotein metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipoproteins, any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids.		mondo.json	regulation of lipoprotein metabolism	http://purl.obolibrary.org/obo/GO_0050746		
HGNC:24316	biolink:NamedThing	TACO1			mondo.json		http://identifiers.org/hgnc/24316		
MONDO:0001161	biolink:Disease	schizoid personality disorder	A disorder characterized by an enduring pattern of extreme social detachment and lack of involvement in interpersonal activities, coupled with emotional coldness.	ICD9:301.2|NCIT:C92631|ICD9:301.20|DOID:10936|SCTID:52954000|MESH:D012557|ICD10CM:F60.1	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001161	DOID:10936|http://identifiers.org/snomedct/52954000|http://identifiers.org/mesh/D012557|NCIT:C92631|http://purl.bioontology.org/ontology/ICD10CM/F60.1	
MONDO:0001160	biolink:Disease	dissociative disorder	A category of psychiatric disorders which are characterized by a disruption in the usually integrated functions of consciousness, memory, identity, and/or perception of the environment.	ICD9:300.15|DOID:10935|ICD9:300.9|NCIT:C92197|MESH:D004213	mondo.json	dissociative reaction|dissociative disease	http://purl.obolibrary.org/obo/MONDO_0001160	DOID:10935|NCIT:C92197|http://identifiers.org/mesh/D004213	
MONDO:0025130	biolink:Disease	swine vesicular disease	An enterovirus infection of swine clinically indistinguishable from foot-and-mouth disease, vesicular stomatitis, and vesicular exanthema of swine. It is caused by a strain of human enterovirus B.	MESH:D013555|UMLS:C0039010	mondo.json	vesicular diseases, swine|vesicular disease, swine|swine vesicular diseases	http://purl.obolibrary.org/obo/MONDO_0025130	UMLS:C0039010|http://identifiers.org/mesh/D013555	
GO:0050747	biolink:NamedThing	positive regulation of lipoprotein metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving lipoproteins, any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids.		mondo.json	up-regulation of lipoprotein metabolic process|up regulation of lipoprotein metabolic process|activation of lipoprotein metabolic process|stimulation of lipoprotein metabolic process|positive regulation of lipoprotein metabolism|upregulation of lipoprotein metabolic process	http://purl.obolibrary.org/obo/GO_0050747		
GO:0050748	biolink:NamedThing	negative regulation of lipoprotein metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving lipoproteins, any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids.		mondo.json	down regulation of lipoprotein metabolic process|inhibition of lipoprotein metabolic process|downregulation of lipoprotein metabolic process|negative regulation of lipoprotein metabolism|down-regulation of lipoprotein metabolic process	http://purl.obolibrary.org/obo/GO_0050748		
MONDO:0001165	biolink:Disease	tongue disorder	A disease involving the tongue.	SCTID:69244009|ICD9:529.8|DOID:10944|ICD9:529.9|MESH:D014060|UMLS:C0040409	mondo.json	disease of tongue|disease or disorder of tongue|tongue disease|tongue disease or disorder|disorder of tongue	http://purl.obolibrary.org/obo/MONDO_0001165	DOID:10944|http://identifiers.org/mesh/D014060|http://identifiers.org/snomedct/69244009|UMLS:C0040409	
MONDO:0001164	biolink:Disease	antisocial personality disorder	A disorder characterized by a pervasive pattern of disregard for and violation of the rights of others that is manifested in childhood or early adolescence. (adapted from DSM-IV)	DOID:10939|SCTID:26665006|MESH:D000987|ICD10CM:F60.2|NCIT:C88413|ICD9:301.7	mondo.json	psychopathic personality|psychopathy|psychopathic personality disorder|asocial personality|sociopathic personality|psychopath.personality|dissocial personality disorder|Sociopathy	http://purl.obolibrary.org/obo/MONDO_0001164	DOID:10939|NCIT:C88413|http://identifiers.org/mesh/D000987|http://purl.bioontology.org/ontology/ICD10CM/F60.2|http://identifiers.org/snomedct/26665006	
MONDO:0001163	biolink:Disease	paranoid personality disorder	A disorder characterized by an enduring pattern of behavior based on the pervasive belief that the motives of others are malevolent and that they should not be trusted.	NCIT:C92630|DOID:10938|ICD10CM:F60.0|SCTID:13601005|ICD9:301.0|MESH:D010260	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001163	DOID:10938|http://identifiers.org/snomedct/13601005|NCIT:C92630|http://identifiers.org/mesh/D010260|http://purl.bioontology.org/ontology/ICD10CM/F60.0	
MONDO:0001162	biolink:Disease	impulse control disorder	A category of behaviors that can be loosely defined as the failure to resist an impulsive act or behavior that may be harmful to self or others.	DOID:10937|ICD9:312.30|NCIT:C34723|ICD9:312.39|SCTID:66347000	mondo.json	ICD|impulse-control disorder	http://purl.obolibrary.org/obo/MONDO_0001162	http://identifiers.org/snomedct/66347000|DOID:10937|NCIT:C34723	
HGNC:26970	biolink:NamedThing	COX20			mondo.json		http://identifiers.org/hgnc/26970		
MONDO:0013158	biolink:Disease	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6	An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.	UMLS:C3150414|DOID:0111242|NCIT:C126743|OMIM:613154|Orphanet:899	mondo.json	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6|Walker-Warburg syndrome or muscle-eye-brain disease, large-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6|MDDGA6	http://purl.obolibrary.org/obo/MONDO_0013158	DOID:0111242|UMLS:C3150414|NCIT:C126743|https://omim.org/entry/613154	
MONDO:0013159	biolink:Disease	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1		Orphanet:370959|Orphanet:370968|UMLS:C3150415|OMIM:613155	mondo.json	congenital muscular dystrophy-POMT1 related|MDDGB1|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1|muscular dystrophy, congenital, Pomt1-related	http://purl.obolibrary.org/obo/MONDO_0013159	UMLS:C3150415|https://omim.org/entry/613155	
CL:0002220	biolink:Cell	interstitial cell of pineal gland	A cell located between the pinealocytes.	FMA:86575	mondo.json		http://purl.obolibrary.org/obo/CL_0002220		
HGNC:12335	biolink:NamedThing	TRPC3			mondo.json		http://identifiers.org/hgnc/12335		
MONDO:0013156	biolink:Disease	muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4		OMIM:613152|UMLS:C2751052	mondo.json	muscular dystrophy, congenital, Fktn-related|muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4|congenital muscular dystrophy-FKTN related|muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4|MDDGB4	http://purl.obolibrary.org/obo/MONDO_0013156	UMLS:C2751052|https://omim.org/entry/613152	
CL:1000497	biolink:Cell	kidney cell		KUPO:0001010	mondo.json		http://purl.obolibrary.org/obo/CL_1000497		
MONDO:0013157	biolink:Disease	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5		DOID:0111241|UMLS:C3150413|Orphanet:899|OMIM:613153	mondo.json	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5|Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related|muscle-eye-brain-FKRP related|MDDGA5	http://purl.obolibrary.org/obo/MONDO_0013157	DOID:0111241|UMLS:C3150413|https://omim.org/entry/613153	
CL:0002222	biolink:Cell	vertebrate lens cell	A cell comprising the transparent, biconvex body separating the posterior chamber and vitreous body, and constituting part of the refracting mechanism of the mammalian eye.	FMA:70950	mondo.json		http://purl.obolibrary.org/obo/CL_0002222		
CL:1000495	biolink:Cell	small intestine goblet cell	A goblet cell that is part of the small intestine.	FMA:86929	mondo.json	small intestinal goblet cell|goblet cell of small intestine|goblet cell of epithelium of small intestine	http://purl.obolibrary.org/obo/CL_1000495		
CL:1000494	biolink:Cell	nephron tubule epithelial cell	An epithelial cell that is part of a nephron tubule.	KUPO:0001022|FMA:86785	mondo.json	kidney tubule epithelial cell	http://purl.obolibrary.org/obo/CL_1000494		
CL:0002224	biolink:Cell	lens epithelial cell	A cell of the cuboidal epithelium that covers the lens. The cells of the lens epithelium regulate most of the homeostatic functions of the lens. As ions, nutrients, and liquid enter the lens from the aqueous humor, Na+/K+ ATPase pumps in the lens epithelial cells pump ions out of the lens to maintain appropriate lens osmolarity and volume, with equatorially positioned lens epithelium cells contributing most to this current. The activity of the Na+/K+ ATPases keeps water and current flowing through the lens from the poles and exiting through the equatorial regions. The cells of the lens epithelium also serve as the progenitors for new lens fibers. It constantly lays down fibers in the embryo, fetus, infant, and adult, and continues to lay down fibers for lifelong growth.	FMA:67559	mondo.json		http://purl.obolibrary.org/obo/CL_0002224		
CL:1000493	biolink:Cell	mesothelial cell of visceral pleura	A mesothelial cell that is part of the visceral pleura.	FMA:86739	mondo.json		http://purl.obolibrary.org/obo/CL_1000493		
HGNC:12338	biolink:NamedThing	TRPC6			mondo.json		http://identifiers.org/hgnc/12338		
CL:1000492	biolink:Cell	mesothelial cell of parietal pleura	A mesothelial cell that is part of the parietal pleura.	FMA:86738	mondo.json		http://purl.obolibrary.org/obo/CL_1000492		
CL:1000491	biolink:Cell	mesothelial cell of pleura	A mesothelial cell that is part of the pleura.	FMA:86737	mondo.json	pleural mesothelial cell	http://purl.obolibrary.org/obo/CL_1000491		
MONDO:0013150	biolink:Disease	parkinsonism-dystonia, infantile	Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.	NCIT:C129866|SCTID:722763000|MESH:C567730|GARD:0010484|OMIMPS:613135|UMLS:C2751067|Orphanet:238455	mondo.json	PARKINSONISM-dystonia, infantile|Parkinsonism-dystonia infantile|infantile Parkinsonism-dystonia|PKDYS|parkinsonism-dystonia, infantile|dopamine transporter deficiency syndrome|IPD	http://purl.obolibrary.org/obo/MONDO_0013150	http://identifiers.org/mesh/C567730|Orphanet:238455|NCIT:C129866|UMLS:C2751067|https://omim.org/phenotypicSeries/PS613135|http://identifiers.org/snomedct/722763000	gard_rare|ordo_disease
CL:1000490	biolink:Cell	mesothelial cell of peritoneum	A mesothelial cell that is part of the peritoneum.	FMA:86736	mondo.json	peritoneal mesothelial cell	http://purl.obolibrary.org/obo/CL_1000490		
MONDO:0013151	biolink:Disease	choroidal dystrophy, central areolar, 3		UMLS:C2751055|OMIM:613144|MESH:C567729	mondo.json	choroidal dystrophy, central areolar, 3|CACD3|choroidal dystrophy, central areolar, with or without drusen	http://purl.obolibrary.org/obo/MONDO_0013151	http://identifiers.org/mesh/C567729|UMLS:C2751055|https://omim.org/entry/613144	
MONDO:0013154	biolink:Disease	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation.	UMLS:C3150411|OMIM:613150|NCIT:C126742|DOID:0111240|Orphanet:899	mondo.json	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2|MDDGA2|Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2|muscle-eye-brain-POMT2 related	http://purl.obolibrary.org/obo/MONDO_0013154	DOID:0111240|UMLS:C3150411|NCIT:C126742|https://omim.org/entry/613150	
MONDO:0013155	biolink:Disease	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3		OMIM:613151|UMLS:C3150412	mondo.json	muscular dystrophy, congenital, POMGNT1-related|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3|congenital muscular dystrophy-POMGNT1 related|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3|MDDGB3	http://purl.obolibrary.org/obo/MONDO_0013155	UMLS:C3150412|https://omim.org/entry/613151	
MONDO:0013152	biolink:Disease	systemic lupus erythematosus, susceptibility to, 14		OMIM:613145	mondo.json	SLEB14|systemic lupus erythematosus, susceptibility to, 14	http://purl.obolibrary.org/obo/MONDO_0013152	https://omim.org/entry/613145	predisposition
MONDO:0013153	biolink:Disease	inflammatory bowel disease 28	Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene.	OMIM:613148|DOID:0110899|UMLS:C2751053|MESH:C567728	mondo.json	IBD28|IL10RA inflammatory bowel disease|inflammatory bowel disease 28, early onset, autosomal recessive|early onset autosomal recessive inflammatory bowel disease 28|inflammatory bowel disease caused by mutation in IL10RA|inflammatory bowel disease, early-onset, autosomal recessive|inflammatory bowel disease 28|inflammatory bowel disease type 28|inflammatory bowel disease 28, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0013153	http://identifiers.org/mesh/C567728|UMLS:C2751053|DOID:0110899|https://omim.org/entry/613148	
HGNC:26988	biolink:NamedThing	METTL23			mondo.json		http://identifiers.org/hgnc/26988		
MONDO:0001179	biolink:Disease	pinguecula	A yellowish thickened lesion on the conjunctiva near the cornea representing a benign degenerative change in the conjunctiva caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the limbus.	DOID:11029|ICD9:372.51|SCTID:87614000|MESH:D059407|UMLS:C0152255|EFO:1001824	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001179	UMLS:C0152255|http://identifiers.org/snomedct/87614000|DOID:11029|http://identifiers.org/mesh/D059407	
MONDO:0001178	biolink:Disease	pseudopterygium		SCTID:66139007|ICD9:372.52|UMLS:C0155161|DOID:11028	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001178	UMLS:C0155161|http://identifiers.org/snomedct/66139007|DOID:11028	
HGNC:24323	biolink:NamedThing	CARTPT			mondo.json		http://identifiers.org/hgnc/24323		
MONDO:0001177	biolink:Disease	anorectal stricture		SCTID:197216007|MESH:C537771|ICD9:569.2|DOID:11014	mondo.json	stenosis of rectum and anus	http://purl.obolibrary.org/obo/MONDO_0001177	DOID:11014|http://identifiers.org/snomedct/197216007	
MONDO:0025129	biolink:Disease	swine erysipelas	An acute and chronic contagious disease of young pigs caused by Erysipelothrix insidiosa.	MESH:D013554|UMLS:C0039007	mondo.json	erysipelas, swine	http://purl.obolibrary.org/obo/MONDO_0025129	UMLS:C0039007|http://identifiers.org/mesh/D013554	
MONDO:0001172	biolink:Disease	salpingo-oophoritis		UMLS:C0036133|SCTID:46536000|DOID:10972|ICD9:614.2	mondo.json	tubo-ovarian abscess (disorder)|Tubo-ovarian inflammatory disease|salpingitis/oophoritis|tubo-ovarian abscess|tubo ovarian abscess	http://purl.obolibrary.org/obo/MONDO_0001172	UMLS:C0036133|DOID:10972|http://identifiers.org/snomedct/46536000	
MONDO:0001171	biolink:Disease	acute salpingo-oophoritis	Acute form of salpingo-oophoritis.	SCTID:266581008|DOID:10971|ICD9:614.0|UMLS:C0156327	mondo.json	acute salpingitis and oophoritis|salpingo-oophoritis, acute	http://purl.obolibrary.org/obo/MONDO_0001171	http://identifiers.org/snomedct/266581008|UMLS:C0156327|DOID:10971	
MONDO:0001170	biolink:Disease	hemiplegia	Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body.	DOID:10969|MESH:D006429|ICD9:343.4|SCTID:1593000|GARD:0006583	mondo.json	postnatal infantile hemiplegia|infantile hemiplegia	http://purl.obolibrary.org/obo/MONDO_0001170	http://identifiers.org/mesh/D006429|http://identifiers.org/snomedct/1593000|DOID:10969	gard_rare
MONDO:0001176	biolink:Disease	lens disorder	A disease involving the lens of camera-type eye.	DOID:110|ICD10CM:H25-H28|MESH:D007905|NCIT:C26812|ICD9:379.39|SCTID:10810001|UMLS:C0023308	mondo.json	disease of lens of camera-type eye|lens of camera-type eye disease or disorder|disorder of lens of camera-type eye|lens of camera-type eye disease|disease or disorder of lens of camera-type eye|lens disorder	http://purl.obolibrary.org/obo/MONDO_0001176	http://purl.bioontology.org/ontology/ICD10CM/H25-H28|http://identifiers.org/snomedct/10810001|DOID:110|UMLS:C0023308|http://identifiers.org/mesh/D007905|NCIT:C26812	
MONDO:0001175	biolink:Disease	immature cataract	A cataract disease in which the cataract contains some transparent protein	UMLS:C2960113|DOID:10997|SCTID:446474007|UMLS:C2939157|UMLS:C0271163	mondo.json	incipient cataract|water clefts|incipient senile cataract	http://purl.obolibrary.org/obo/MONDO_0001175	http://identifiers.org/snomedct/446474007|DOID:10997|UMLS:C0271163|UMLS:C2939157|UMLS:C2960113	
MONDO:0001174	biolink:Disease	conjunctival vascular disorder	A disorder of the vasculature of the cornea.	DOID:10989|NCIT:C35116|ICD9:372.74|SCTID:74100001	mondo.json	conjunctival vasculature disease or disorder|disorder of conjunctival vasculature|disease of conjunctival vasculature|disease or disorder of conjunctival vasculature|conjunctival vascular disorder|conjunctival vasculature disease|conjunctival vascular abnormality|vascular abnormalities of conjunctiva	http://purl.obolibrary.org/obo/MONDO_0001174	DOID:10989|NCIT:C35116|http://identifiers.org/snomedct/74100001	
MONDO:0001173	biolink:Disease	acute salpingitis	Acute inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy.	UMLS:C0269038|DOID:10973|ICD10CM:N70.01|SCTID:8912009|NCIT:C40120	mondo.json	salpingitis, acute	http://purl.obolibrary.org/obo/MONDO_0001173	http://purl.bioontology.org/ontology/ICD10CM/N70.01|http://identifiers.org/snomedct/8912009|UMLS:C0269038|DOID:10973|NCIT:C40120	
MONDO:0013147	biolink:Disease	dilated cardiomyopathy 1CC	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.	UMLS:C2751084|MESH:C567733|OMIM:613122|DOID:0110424	mondo.json	cardiomyopathy, dilated, type 1Cc|dilated cardiomyopathy type 1CC|CMD1CC|cardiomyopathy, dilated, 1CC|NEXN familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in NEXN	http://purl.obolibrary.org/obo/MONDO_0013147	https://omim.org/entry/613122|http://identifiers.org/mesh/C567733|UMLS:C2751084|DOID:0110424	
CL:0002232	biolink:Cell	epithelial cell of prostatic duct	An epithelial cell of prostatic duct.	FMA:74224	mondo.json	ductal epithelial cell of prostate	http://purl.obolibrary.org/obo/CL_0002232		
CL:1000488	biolink:Cell	cholangiocyte	An epithelial cell that is part of the bile duct. Cholangiocytes contribute to bile secretion via net release of bicarbonate and water. They are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts.	FMA:86481	mondo.json	epithelial cell of bile duct	http://purl.obolibrary.org/obo/CL_1000488		
MONDO:0013148	biolink:Disease	Brugada syndrome 8	Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene.	UMLS:C2751083|MESH:C567732|OMIM:613123|DOID:0110225	mondo.json	Brugada syndrome 8|Brugada syndrome caused by mutation in HCN4|BRGDA8|HCN4 Brugada syndrome|Brugada syndrome type 8	http://purl.obolibrary.org/obo/MONDO_0013148	https://omim.org/entry/613123|http://identifiers.org/mesh/C567732|DOID:0110225|UMLS:C2751083	
CL:1000487	biolink:Cell	smooth muscle cell of prostate	A smooth muscle cell that is part of the prostate gland.	FMA:84583	mondo.json	smooth muscle fiber of prostate	http://purl.obolibrary.org/obo/CL_1000487		
CL:0002231	biolink:Cell	epithelial cell of prostate	An epithelial cell of the prostate.	FMA:66817|FMA:256163	mondo.json	prostate epithelial cell	http://purl.obolibrary.org/obo/CL_0002231		
MONDO:0013145	biolink:Disease	Brugada syndrome 6	Any Brugada syndrome in which the cause of the disease is a mutation in the KCNE3 gene.	DOID:0110223|UMLS:C2751089|MESH:C567735|OMIM:613119	mondo.json	BRGDA6|Brugada syndrome type 6|Brugada syndrome caused by mutation in KCNE3|Brugada syndrome 6|KCNE3 Brugada syndrome	http://purl.obolibrary.org/obo/MONDO_0013145	http://identifiers.org/mesh/C567735|UMLS:C2751089|DOID:0110223|https://omim.org/entry/613119	
CL:1000486	biolink:Cell	basal cell of urothelium	A basal cell that is part of the urothelium.	FMA:84150	mondo.json		http://purl.obolibrary.org/obo/CL_1000486		
MONDO:0013146	biolink:Disease	Brugada syndrome 7	Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene.	OMIM:613120|Orphanet:334|MESH:C567734|UMLS:C2751088|DOID:0110224	mondo.json	Brugada syndrome caused by mutation in SCN3B|Brugada syndrome 7|atrial fibrillation, familial, 16|SCN3B Brugada syndrome|Brugada syndrome type 7|BRGDA7	http://purl.obolibrary.org/obo/MONDO_0013146	http://identifiers.org/mesh/C567734|UMLS:C2751088|DOID:0110224|https://omim.org/entry/613120	
CL:1000484	biolink:Cell	Purkinje myocyte of atrioventricular bundle	A Purkinje myocyte that is part of the atrioventricular bundle.	FMA:83393	mondo.json		http://purl.obolibrary.org/obo/CL_1000484		
CL:0002236	biolink:Cell	basal epithelial cell of prostatic duct	A cell that constitutes the basal layer of epithelium in the prostatic duct.	FMA:74226	mondo.json		http://purl.obolibrary.org/obo/CL_0002236		
MONDO:0013149	biolink:Disease	hydrops fetalis, nonimmune, with gracile bones and dysmorphic features		UMLS:C2751073|MESH:C567731|OMIM:613124	mondo.json	hydrops fetalis, nonimmune, with gracile bones and dysmorphic features	http://purl.obolibrary.org/obo/MONDO_0013149	https://omim.org/entry/613124|http://identifiers.org/mesh/C567731|UMLS:C2751073	
CL:1000482	biolink:Cell	myocardial endocrine cell of interventricular septum	A myocardial endocrine cell that is part of the interventricular septum.	FMA:83390	mondo.json		http://purl.obolibrary.org/obo/CL_1000482		
CL:1000481	biolink:Cell	transitional myocyte of atrioventricular bundle	A transitional myocyte that is part of the atrioventricular bundle.	FMA:83885|FMA:83388	mondo.json		http://purl.obolibrary.org/obo/CL_1000481		
MONDO:0013140	biolink:Disease	candidiasis, familial, 4	Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene.	SCTID:235073000|OMIM:613108|UMLS:C0341024	mondo.json	candidiasis, familial, type 4|candidiasis, familial, 4, autosomal recessive|candidiasis, familial chronic mucocutaneous|CANDF4|familial chronic mucocutaneous candidiasis caused by mutation in CLEC7A|candidiasis, familial, 4|CLEC7A familial chronic mucocutaneous candidiasis	http://purl.obolibrary.org/obo/MONDO_0013140	http://identifiers.org/snomedct/235073000|UMLS:C0341024|https://omim.org/entry/613108	
NCBITaxon:11270	biolink:OrganismalEntity	Rhabdoviridae		PMID:16186241|GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_11270		
MONDO:0013143	biolink:Disease	hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency		MESH:C567737|Orphanet:217467|OMIM:613116	mondo.json	thrombophilia 11 due to HRG deficiency|thrombophilia due to elevated histidine-rich glycoprotein|THPH11|thrombophilia due to histidine-rich glycoprotein deficiency|hereditary thrombophilia due to congenital HRG deficiency	http://purl.obolibrary.org/obo/MONDO_0013143	Orphanet:217467|http://identifiers.org/mesh/C567737|https://omim.org/entry/613116	ordo_disease
MONDO:0013144	biolink:Disease	hereditary antithrombin deficiency	A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).	MESH:D020152|OMIM:613118|ICD9:286.9|SCTID:36351005|DOID:3755|Orphanet:82|UMLS:C0272375|GARD:0006148	mondo.json	antithrombin III deficiency|thrombophilia 7 due to antithrombin III deficiency|hereditary thrombophilia due to congenital antithrombin deficiency|congenital antithrombin III deficiency|inherited antithrombin deficiency|AT III deficiency|hereditary antithrombin deficiency|AT3D|antithrombin 3 deficiency|hereditary thrombophilia due to congenital antithrombin 3 deficiency|thrombophilia due to antithrombin III deficiency|congenital AT-III deficiency|thrombophilia due to antithrombin 3 deficiency	http://purl.obolibrary.org/obo/MONDO_0013144	http://identifiers.org/mesh/D020152|Orphanet:82|UMLS:C0272375|http://identifiers.org/snomedct/36351005|DOID:3755|https://omim.org/entry/613118	ordo_disease
MONDO:0013141	biolink:Disease	obsolete autosomal dominant macrothrombocytopenia TUBB1-related			mondo.json		http://purl.obolibrary.org/obo/MONDO_0013141		
MONDO:0013142	biolink:Disease	neuropathy, hereditary sensory and autonomic, type 2B	Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene.	UMLS:C2751092|OMIM:613115|DOID:0070150	mondo.json	hereditary sensory and autonomic neuropathy type 2B|RETREG1 hereditary sensory and autonomic neuropathy type 2|neuropathy, hereditary sensory and autonomic, type IIB|hereditary sensory and autonomic neuropathy type 2 caused by mutation in RETREG1|neuropathy, hereditary sensory and autonomic, type 2B|hereditary sensory and autonomic neuropathy type IIB|HSAN2B	http://purl.obolibrary.org/obo/MONDO_0013142	DOID:0070150|UMLS:C2751092|https://omim.org/entry/613115	
GO:0035176	biolink:NamedThing	social behavior	Behavior directed towards society, or taking place between members of the same species. Occurs predominantly, or only, in individuals that are part of a group.		mondo.json	cooperative behavior|social behaviour	http://purl.obolibrary.org/obo/GO_0035176		
HGNC:12340	biolink:NamedThing	TRPS1			mondo.json		http://identifiers.org/hgnc/12340		
MONDO:0001147	biolink:Disease	meningocele	A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium.	NCIT:C101209|HP:0002435|Orphanet:93968|GARD:0003471|SCTID:171131006|UMLS:C0025299|MESH:D008588|NCIT:C105595|DOID:1088	mondo.json	meningocele (disease)|central nervous system meningocele|spinal meningocele|meningocele	http://purl.obolibrary.org/obo/MONDO_0001147	NCIT:C101209|http://identifiers.org/snomedct/171131006|DOID:1088|Orphanet:93968|NCIT:C105595|UMLS:C0025299|http://identifiers.org/mesh/D008588	gard_rare
MONDO:0025114	biolink:Disease	protozoan infections, animal	Infections with unicellular organisms formerly members of the subkingdom Protozoa. The infections may be experimental or veterinary.	UMLS:C0033741|MESH:D011529	mondo.json	protozoan infection, animal|infection, animal protozoan|animal protozoan infections|infections, animal protozoan|animal protozoan infection	http://purl.obolibrary.org/obo/MONDO_0025114	UMLS:C0033741|http://identifiers.org/mesh/D011529	
MONDO:0001146	biolink:Disease	fourth cranial nerve palsy	A cranial nerve palsy that involves the trochlear nerve.	ICD9:378.53|DOID:10869|SCTID:20610004	mondo.json	trochlear nerve cranial nerve palsy|fourth nerve palsy|fourth or trochlear nerve palsy|cranial nerve palsy of trochlear nerve	http://purl.obolibrary.org/obo/MONDO_0001146	DOID:10869|http://identifiers.org/snomedct/20610004	
NCBITaxon:11244	biolink:OrganismalEntity	Pneumoviridae		GC_ID:1	mondo.json	Pneumovirinae	http://purl.obolibrary.org/obo/NCBITaxon_11244		
MONDO:0025113	biolink:Disease	poultry disease	Diseases of birds which are raised as a source of meat or eggs for human consumption and are usually found in barnyards, hatcheries, etc. The concept is differentiated from bird diseases which is for diseases of birds not considered poultry and usually found in zoos, parks, and the wild.	UMLS:C0032851|MESH:D011201	mondo.json	disease, poultry|poultry disease|diseases, poultry	http://purl.obolibrary.org/obo/MONDO_0025113	UMLS:C0032851|http://identifiers.org/mesh/D011201	
GO:0050764	biolink:NamedThing	regulation of phagocytosis	Any process that modulates the frequency, rate or extent of phagocytosis, the process in which phagocytes engulf external particulate material.		mondo.json		http://purl.obolibrary.org/obo/GO_0050764		
MONDO:0001145	biolink:Disease	total third-nerve palsy		SCTID:194119004|UMLS:C0271371|ICD9:378.52|DOID:10866	mondo.json	third or oculomotor nerve palsy, total|total third nerve palsy|third nerve palsy with pupil involved	http://purl.obolibrary.org/obo/MONDO_0001145	http://identifiers.org/snomedct/194119004|DOID:10866|UMLS:C0271371	
MONDO:0001144	biolink:Disease	partial third-nerve palsy		ICD9:378.51|UMLS:C0271370|SCTID:194118007|DOID:10864	mondo.json	third nerve palsy with pupil sparing|third or oculomotor nerve palsy, partial|partial third nerve palsy	http://purl.obolibrary.org/obo/MONDO_0001144	DOID:10864|http://identifiers.org/snomedct/194118007|UMLS:C0271370	
GO:0050767	biolink:NamedThing	regulation of neurogenesis	Any process that modulates the frequency, rate or extent of neurogenesis, the generation of cells in the nervous system.		mondo.json		http://purl.obolibrary.org/obo/GO_0050767		
GO:0050768	biolink:NamedThing	negative regulation of neurogenesis	Any process that stops, prevents, or reduces the frequency, rate or extent of neurogenesis, the generation of cells within the nervous system.		mondo.json	downregulation of neurogenesis|down regulation of neurogenesis|inhibition of neurogenesis|down-regulation of neurogenesis	http://purl.obolibrary.org/obo/GO_0050768		
MONDO:0001149	biolink:Disease	microcephaly	A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex.	ICD9:742.1|HP:0000252|DOID:10907|MESH:D008831|NCIT:C85874|GARD:0003603|SCTID:1829003	mondo.json	microencephaly|microcephaly|microcephaly (disease)|microcephalus	http://purl.obolibrary.org/obo/MONDO_0001149	NCIT:C85874|http://identifiers.org/snomedct/1829003|DOID:10907|http://identifiers.org/mesh/D008831	gard_rare
GO:0050765	biolink:NamedThing	negative regulation of phagocytosis	Any process that stops, prevents, or reduces the frequency, rate or extent of phagocytosis.		mondo.json	downregulation of phagocytosis|down regulation of phagocytosis|inhibition of phagocytosis|down-regulation of phagocytosis	http://purl.obolibrary.org/obo/GO_0050765		
GO:0050766	biolink:NamedThing	positive regulation of phagocytosis	Any process that activates or increases the frequency, rate or extent of phagocytosis.		mondo.json	stimulation of phagocytosis|up regulation of phagocytosis|activation of phagocytosis|up-regulation of phagocytosis|upregulation of phagocytosis	http://purl.obolibrary.org/obo/GO_0050766		
MONDO:0001148	biolink:Disease	iliac vein thrombophlebitis	A thrombophlebitis that involves the iliac vein.	SCTID:42861008|DOID:10880|ICD9:451.81|UMLS:C0347887	mondo.json	phlebitis and thrombophlebitis of the iliac vein|iliac vein thrombophlebitis|thrombophlebitis of iliac vein	http://purl.obolibrary.org/obo/MONDO_0001148	DOID:10880|UMLS:C0347887|http://identifiers.org/snomedct/42861008	
NCIT:C15329	biolink:NamedThing	Surgical Procedure		IMDRF:F19	mondo.json		http://purl.obolibrary.org/obo/NCIT_C15329		http://purl.obolibrary.org/obo/NCIT_C159412|http://purl.obolibrary.org/obo/NCIT_C116977|http://purl.obolibrary.org/obo/NCIT_C157711|http://purl.obolibrary.org/obo/NCIT_C157526|http://purl.obolibrary.org/obo/NCIT_C157527|http://purl.obolibrary.org/obo/NCIT_C157528|http://purl.obolibrary.org/obo/NCIT_C157529|http://purl.obolibrary.org/obo/NCIT_C157524|http://purl.obolibrary.org/obo/NCIT_C157530|http://purl.obolibrary.org/obo/NCIT_C157532|http://purl.obolibrary.org/obo/NCIT_C157533|http://purl.obolibrary.org/obo/NCIT_C157534|http://purl.obolibrary.org/obo/NCIT_C62596|http://purl.obolibrary.org/obo/NCIT_C90259|http://purl.obolibrary.org/obo/NCIT_C156954|http://purl.obolibrary.org/obo/NCIT_C156953|http://purl.obolibrary.org/obo/NCIT_C156952|http://purl.obolibrary.org/obo/NCIT_C171094|http://purl.obolibrary.org/obo/NCIT_C118169|http://purl.obolibrary.org/obo/NCIT_C159100|http://purl.obolibrary.org/obo/NCIT_C159125
GO:0050769	biolink:NamedThing	positive regulation of neurogenesis	Any process that activates or increases the frequency, rate or extent of neurogenesis, the generation of cells within the nervous system.		mondo.json	up regulation of neurogenesis|stimulation of neurogenesis|up-regulation of neurogenesis|activation of neurogenesis|upregulation of neurogenesis	http://purl.obolibrary.org/obo/GO_0050769		
CL:0002209	biolink:Cell	intermediate epitheliocyte	An epithelial cell present in the trachea and bronchi; columnar in shape; generally lack cilia; immature forms of ciliated or secretory cells which have been formed from stem cells.	FMA:69060	mondo.json	undifferentiated columnar cell of tracheobronchial tree	http://purl.obolibrary.org/obo/CL_0002209		
HGNC:12309	biolink:NamedThing	ZNHIT3			mondo.json		http://identifiers.org/hgnc/12309		
MONDO:0001143	biolink:Disease	paralytic strabismus		ICD9:378.50|HP:0031775|UMLS:C0152221|ICD9:378.5|SCTID:400942002|DOID:10863	mondo.json	paralytic squint|incomitant dissociation	http://purl.obolibrary.org/obo/MONDO_0001143	http://identifiers.org/snomedct/400942002|UMLS:C0152221|DOID:10863	
MONDO:0001142	biolink:Disease	salivary gland disorder	A disease involving the saliva-secreting gland.	NCIT:C26879|SCTID:10890000|MESH:D012466|EFO:0008581|ICD9:527.8|DOID:10854|ICD9:527.9|UMLS:C0036093	mondo.json	salivary gland disorder|saliva-secreting gland disease or disorder|disorder of saliva-secreting gland|disease of saliva-secreting gland|disease or disorder of saliva-secreting gland|non-neoplastic salivary gland disease|salivary gland disease|saliva-secreting gland disease	http://purl.obolibrary.org/obo/MONDO_0001142	NCIT:C26879|DOID:10854|UMLS:C0036093|http://identifiers.org/snomedct/10890000|http://identifiers.org/mesh/D012466	
MONDO:0001141	biolink:Disease	middle ear cholesterol granuloma	As accumulation of granulation tissue in the middle ear that results from the degeneration of blood and a chronic inflammatory response.	SCTID:28371001|UMLS:C0155492|DOID:10852|ICD9:385.82	mondo.json	cholesterin granuloma|cholesterin granuloma of middle ear	http://purl.obolibrary.org/obo/MONDO_0001141	DOID:10852|UMLS:C0155492|http://identifiers.org/snomedct/28371001	
MONDO:0027772	biolink:Disease	lung colloid adenocarcinoma	A morphologic variant of lung adenocarcinoma characterized by the presence of mucin pools containing islands of well differentiated adenocarcinoma cells.	NCIT:C45512|DOID:0080304|DOID:0080303|UMLS:C1708776	mondo.json	lung mucinous cystic tumor of borderline malignancy|lung colloid adenocarcinoma|lung mucinous cystadenocarcinoma|mucinous lung adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0027772	DOID:0080304|DOID:0080303|UMLS:C1708776|NCIT:C45512	
MONDO:0001140	biolink:Disease	obsolete Edwards syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001140		
MONDO:0040700	biolink:Disease	orbital dermoid cyst	A benign congenital tumor that affects the orbit. It is one of the most common orbital tumors. It is characterized by the presence of a cystic structure that is lined by keratinizing epithelium and contains adnexal structures. Complete surgical excision is curative.	NCIT:C4548|UMLS:C0346356|SCTID:255002002	mondo.json	dermoid cyst of orbit|epidermal dermoid cyst|orbit dermoid cyst|dermoid cyst of the orbit	http://purl.obolibrary.org/obo/MONDO_0040700	http://identifiers.org/snomedct/255002002|NCIT:C4548|UMLS:C0346356	
MONDO:0015799	biolink:Disease	Smith-McCort dysplasia	Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.	MESH:C564589|Orphanet:178355|GARD:0010620|DOID:0060247|OMIMPS:607326|SCTID:715862006	mondo.json	Smith McCort dysplasia|Smith-McCort dwarfism	http://purl.obolibrary.org/obo/MONDO_0015799	https://omim.org/phenotypicSeries/PS607326|Orphanet:178355|http://identifiers.org/snomedct/715862006|http://identifiers.org/mesh/C564589|DOID:0060247	ordo_disease|gard_rare
MONDO:0013136	biolink:Disease	hereditary hypotrichosis with recurrent skin vesicles	Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid.	UMLS:C2751292|SCTID:724350009|OMIM:613102|MESH:C567751|Orphanet:217407	mondo.json	hereditary hypotrichosis with recurrent skin vesicles|hypotrichosis and recurrent skin vesicles	http://purl.obolibrary.org/obo/MONDO_0013136	https://omim.org/entry/613102|Orphanet:217407|http://identifiers.org/mesh/C567751|http://identifiers.org/snomedct/724350009|UMLS:C2751292	ordo_disease
HGNC:14977	biolink:NamedThing	SNX14			mondo.json		http://identifiers.org/hgnc/14977		
MONDO:0013137	biolink:Disease	choroidal dystrophy, central areolar 2	Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.	MESH:C567750|UMLS:C2751290|OMIM:613105	mondo.json	CACD2|macular dystrophy, progressive|PRPH2 central areolar choroidal dystrophy|choroidal dystrophy, central areolar type 2|central areolar choroidal dystrophy caused by mutation in PRPH2|choroidal dystrophy, central areolar 2	http://purl.obolibrary.org/obo/MONDO_0013137	https://omim.org/entry/613105|http://identifiers.org/mesh/C567750|UMLS:C2751290	
MONDO:0015798	biolink:Disease	inflammatory myofibroblastic tumor	A multinodular intermediate fibroblastic neoplasm that arises from soft tissue or viscera, in children and young adults. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells.	ONCOTREE:IMT|DOID:0050905|GARD:0007146|MESH:D006104|NCIT:C6481|ICDO:8825/1|Orphanet:178342|MedDRA:10067917|UMLS:C0334121	mondo.json	inflammatory pseudotumor|inflammatory myofibroblastic tumor|IMT|inflammatory fibrosarcoma|inflammatory myofibroblastic neoplasm	http://purl.obolibrary.org/obo/MONDO_0015798	UMLS:C0334121|Orphanet:178342|DOID:0050905|http://identifiers.org/mesh/D006104|NCIT:C6481	gard_rare|ordo_disease
FOODON:03420310	biolink:NamedThing	obsolete: stamen			mondo.json		http://purl.obolibrary.org/obo/FOODON_03420310		
MONDO:0013134	biolink:Disease	glaucoma 1, open angle, O	Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene.	UMLS:C2751294|MESH:C567753|OMIM:613100	mondo.json	NTF4 open-angle glaucoma|glaucoma 1, open angle, 1O|open-angle glaucoma caused by mutation in NTF4|GLC1O|glaucoma 1, open angle, type O|glaucoma 1, open angle, O	http://purl.obolibrary.org/obo/MONDO_0013134	https://omim.org/entry/613100|http://identifiers.org/mesh/C567753|UMLS:C2751294	
MONDO:0015797	biolink:Disease	UV-sensitive syndrome	UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population.	DOID:0060240|GARD:0010947|Orphanet:178338|MESH:C563466|OMIMPS:600630|ICD9:702.8|SCTID:698253007	mondo.json	UV sensitive syndrome|UVSS	http://purl.obolibrary.org/obo/MONDO_0015797	https://omim.org/phenotypicSeries/PS600630|Orphanet:178338|http://identifiers.org/snomedct/698253007|DOID:0060240|http://identifiers.org/mesh/C563466	gard_rare|ordo_disease
NCIT:C15330	biolink:NamedThing	Digestive System Surgery			mondo.json		http://purl.obolibrary.org/obo/NCIT_C15330		http://purl.obolibrary.org/obo/NCIT_C156952|http://purl.obolibrary.org/obo/NCIT_C158036|http://purl.obolibrary.org/obo/NCIT_C158520
MONDO:0015796	biolink:Disease	acute lung injury	A condition of lung damage that is characterized by bilateral pulmonary infiltrates (pulmonary edema) rich in neutrophils, and in the absence of clinical heart failure. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological).	NCIT:C155766|MedDRA:10069351|SCTID:315345002|MESH:D055371|EFO:0004610|Orphanet:178320	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015796	NCIT:C155766|http://identifiers.org/snomedct/315345002|Orphanet:178320|http://identifiers.org/mesh/D055371	ordo_clinical_situation
MONDO:0013135	biolink:Disease	familial hemophagocytic lymphohistiocytosis 5	Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene.	Orphanet:540|UMLS:C2751293|OMIM:613101|DOID:0110925|MESH:C567752	mondo.json	genetic hemophagocytic lymphohistiocytosis caused by mutation in STXBP2|STXBP2 genetic hemophagocytic lymphohistiocytosis|familial hemophagocytic lymphohistiocytosis type 5|HLH5|HPLH5|FHL5|hemophagocytic lymphohistiocytosis, familial, 5|hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease|hemophagocytic lymphohistiocytosis, familial, type 5	http://purl.obolibrary.org/obo/MONDO_0013135	DOID:0110925|https://omim.org/entry/613101|http://identifiers.org/mesh/C567752|UMLS:C2751293	
CL:0002200	biolink:Cell	oxyphil cell of thyroid	An oncocyte located in the thyroid.	FMA:87169	mondo.json	Askanazy cells|Hurthle cells	http://purl.obolibrary.org/obo/CL_0002200		
CL:0002202	biolink:Cell	epithelial cell of tracheobronchial tree	An epithelial cell of the tracheobronchial tree.	FMA:66816	mondo.json		http://purl.obolibrary.org/obo/CL_0002202		
HGNC:14974	biolink:NamedThing	SNX10			mondo.json		http://identifiers.org/hgnc/14974		
MONDO:0013138	biolink:Disease	vertigo, benign recurrent, 2		UMLS:C2751289|MESH:C567749|OMIM:613106	mondo.json	BRV2|vertigo, benign recurrent, 2	http://purl.obolibrary.org/obo/MONDO_0013138	https://omim.org/entry/613106|http://identifiers.org/mesh/C567749|UMLS:C2751289	
MONDO:0013139	biolink:Disease	neutropenia, severe congenital, 2, autosomal dominant	Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene.	UMLS:C2751288|MESH:C567748|OMIM:613107	mondo.json	neutropenia, severe congenital, 2, autosomal dominant|neutropenia, severe congenital 2, autosomal dominant|GFI1 autosomal dominant severe congenital neutropenia|SCN2|autosomal dominant severe congenital neutropenia caused by mutation in GFI1	http://purl.obolibrary.org/obo/MONDO_0013139	UMLS:C2751288|https://omim.org/entry/613107|http://identifiers.org/mesh/C567748	
MONDO:0015791	biolink:Disease	peripheral precocious puberty	Precocious puberty caused by sex hormones.	Orphanet:178040|SCTID:736606009	mondo.json	precocious pseudopuberty|GIPP|gonadotropin independent precocious puberty|gonadotropin-independent precocious puberty	http://purl.obolibrary.org/obo/MONDO_0015791	http://identifiers.org/snomedct/736606009|Orphanet:178040	disease_grouping|ordo_group_of_disorders
MONDO:0015790	biolink:Disease	central diabetes insipidus	Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI).	ICD10CM:E23.2|Orphanet:178029|MedDRA:10068587|HP:0000863|GARD:0006015	mondo.json	diabetes insipidus neurohypophyseal|diabetes insipidus cranial type|neurogenic diabetes insipidus|diabetes insipidus neurogenic|CDI	http://purl.obolibrary.org/obo/MONDO_0015790	Orphanet:178029	ordo_disease
MONDO:0015795	biolink:Disease	undifferentiated embryonal sarcoma of the liver	Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache.	SCTID:716648006|ONCOTREE:UESL|Orphanet:178315	mondo.json	embryonal sarcoma of the liver|undifferentiated sarcoma of the liver|UES	http://purl.obolibrary.org/obo/MONDO_0015795	Orphanet:178315|http://identifiers.org/snomedct/716648006	ordo_disease
MONDO:0013132	biolink:Disease	hereditary spastic paraplegia 36	Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.	OMIM:613096|Orphanet:320365|UMLS:C4510078|MESH:C567930|UMLS:C2936879|SCTID:723819007|DOID:0110787	mondo.json	hereditary spastic paraplegia type 36|SPG36|autosomal dominant spastic paraplegia 36|spastic paraplegia 36, autosomal dominant|autosomal dominant spastic paraplegia type 36	http://purl.obolibrary.org/obo/MONDO_0013132	UMLS:C4510078|http://identifiers.org/snomedct/723819007|UMLS:C2936879|Orphanet:320365|http://identifiers.org/mesh/C567930|DOID:0110787|https://omim.org/entry/613096	ordo_disease
HGNC:12310	biolink:NamedThing	TRIP4			mondo.json		http://identifiers.org/hgnc/12310		
MONDO:0015794	biolink:Disease	antenatal multiminicore disease with arthrogryposis multiplex congenita		GARD:0009129|UMLS:C1843691|Orphanet:178148	mondo.json	multiminicore myopathy, antenatal onset, with arthrogryposis|multicore myopathy, antenatal onset, with arthrogryposis	http://purl.obolibrary.org/obo/MONDO_0015794	Orphanet:178148|UMLS:C1843691	ordo_clinical_subtype
MONDO:0013133	biolink:Disease	melanoma, cutaneous malignant, susceptibility to, 5		OMIM:613099	mondo.json	melanoma, cutaneous malignant, 5|melanoma, cutaneous malignant, susceptibility to, type 5|CMM5|melanoma, cutaneous malignant, susceptibility to, 5|susceptibility to cutaneous malignant melanoma 5	http://purl.obolibrary.org/obo/MONDO_0013133	https://omim.org/entry/613099	predisposition
MONDO:0013130	biolink:Disease	isolated microphthalmia 4	Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene.	DOID:0060836|MESH:C567757|OMIM:613094|UMLS:C2751307	mondo.json	microphthalmia, isolated 4|isolated microphthalmia caused by mutation in GDF6|MCOP4|microphthalmia, isolated type 4|isolated microphthalmia type 4|GDF6 isolated microphthalmia	http://purl.obolibrary.org/obo/MONDO_0013130	DOID:0060836|http://identifiers.org/mesh/C567757|UMLS:C2751307|https://omim.org/entry/613094	
MONDO:0015793	biolink:Disease	moderate multiminicore disease with hand involvement		OMIM:117000|UMLS:C1861753|Orphanet:178145	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015793	Orphanet:178145|UMLS:C1861753	ordo_clinical_subtype
MONDO:0013131	biolink:Disease	polycystic kidney disease 2	Autosomal dominant polycystic kidney disease caused by a mutation in PKD2.	NCIT:C123166|DOID:0110859|OMIM:613095|SCTID:253879006|UMLS:C2751306	mondo.json	PKD2|Autosomal dominant polycystic kidney disease type 2|autosomal dominant polycystic kidney disease caused by mutation in PKD2|PKD2 autosomal dominant polycystic kidney disease|polycystic kidney disease, adult, type II|polycystic kidney disease type 2|polycystic kidney disease 2 with or without polycystic liver disease|polycystic kidney disease 2|polycystic kidney disease, adult, type 2|APKD2	http://purl.obolibrary.org/obo/MONDO_0013131	http://identifiers.org/snomedct/253879006|NCIT:C123166|UMLS:C2751306|DOID:0110859|https://omim.org/entry/613095	
MONDO:0015792	biolink:Disease	transient congenital hypothyroidism	A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone.	Orphanet:178045|NCIT:C113171|SCTID:119181000119104|UMLS:C3827793	mondo.json	hypothyroxinemia of prematurity|THOP|transient hypothyroxinemia of prematurity	http://purl.obolibrary.org/obo/MONDO_0015792	Orphanet:178045|http://identifiers.org/snomedct/119181000119104|UMLS:C3827793|NCIT:C113171	ordo_group_of_disorders|disease_grouping
MONDO:0001158	biolink:Disease	obsessive-compulsive personality disorder	A disorder characterized by an enduring pattern of inflexibility, extreme orderliness, and perfectionism which interfere with efficiency and which may manifest in many different contexts, including work and leisure activities, financial matters, and issues of morality or ethics.	NCIT:C92638|SCTID:1376001|ICD9:301.4|ICD10CM:F60.5|DOID:10932|MESH:D003193	mondo.json	OCPD|obsessional personality|OCD|anankastic personality disorder	http://purl.obolibrary.org/obo/MONDO_0001158	http://identifiers.org/mesh/D003193|DOID:10932|http://identifiers.org/snomedct/1376001|NCIT:C92638|http://purl.bioontology.org/ontology/ICD10CM/F60.5	
MONDO:0027766	biolink:Disease	generalized lipodystrophy	Almost complete absence of subcutaneous and/or visceral adipose tissue.	HP:0009064|NCIT:C131815|DOID:0080298|UMLS:C4317112	mondo.json	complete generalized lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0027766	NCIT:C131815|UMLS:C4317112|DOID:0080298	
MONDO:0025102	biolink:Disease	monkey disease	Diseases of Old World and New World monkeys. This term includes diseases of baboons but not of chimpanzees or gorillas (= ape diseases).	MESH:D008992	mondo.json	diseases, monkey|monkey disease|disease, monkey	http://purl.obolibrary.org/obo/MONDO_0025102	http://identifiers.org/mesh/D008992	
MONDO:0027767	biolink:Disease	partial lipodystrophy	Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body.	UMLS:C4316789|NCIT:C131296|DOID:0080299	mondo.json		http://purl.obolibrary.org/obo/MONDO_0027767	DOID:0080299|UMLS:C4316789|NCIT:C131296	
MONDO:0001157	biolink:Disease	dependent personality disorder	A disorder characterized by an enduring pattern of an extreme need to be taken care of together with fear of separation that lead the individual to urgently seek out and submit to another person and allow that person to make decisions that impact all areas of the individual's life.	SCTID:84466009|ICD9:301.6|NCIT:C92637|ICD10CM:F60.7|DOID:10931|MESH:D003859	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001157	DOID:10931|http://identifiers.org/mesh/D003859|NCIT:C92637|http://identifiers.org/snomedct/84466009|http://purl.bioontology.org/ontology/ICD10CM/F60.7	
MONDO:0001156	biolink:Disease	borderline personality disorder	A disorder characterized by an enduring pattern of unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior.	SCTID:20010003|MESH:D001883|ICD9:301.83|HP:0012076|NCIT:C92633|DOID:10930	mondo.json	borderline personality disorder (disease)|BPD|borderline personality disorder	http://purl.obolibrary.org/obo/MONDO_0001156	DOID:10930|http://identifiers.org/snomedct/20010003|http://identifiers.org/mesh/D001883|NCIT:C92633	
GO:0050772	biolink:NamedThing	positive regulation of axonogenesis	Any process that activates or increases the frequency, rate or extent of axonogenesis.		mondo.json	upregulation of axonogenesis|up regulation of axonogenesis|stimulation of axonogenesis|up-regulation of axonogenesis|activation of axonogenesis	http://purl.obolibrary.org/obo/GO_0050772		
MONDO:0001155	biolink:Disease	gastrojejunal ulcer		UMLS:C0156042|DOID:10927|UMLS:C0156048|ICD9:534.0|UMLS:C0156047|SCTID:4269005|UMLS:C0156045|ICD10CM:K28.0|UMLS:C0156044|UMLS:C0156050	mondo.json	acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction|acute gastrojejunal ulcer with hemorrhage and obstruction|acute gastrojejunal ulcer with perforation and obstruction|acute gastrojejunal ulcer without hemorrhage and without perforation|chronic gastrojejunal ulcer without hemorrhage and without perforation|acute gastrojejunal ulcer with hemorrhage|chronic gastrojejunal ulcer without hemorrhage, without perforation and without obstruction|acute gastrojejunal ulcer with perforation, with obstruction|chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction|acute gastrojejunal ulcer with hemorrhage and perforation|acute gastrojejunal ulcer with perforation|acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction|acute gastrojejunal ulcer without hemorrhage, without perforation and without obstruction|acute gastrojejunal ulcer with hemorrhage, with perforation and with obstruction|acute gastrojejunal ulcer, with hemorrhage, with obstruction	http://purl.obolibrary.org/obo/MONDO_0001155	http://purl.bioontology.org/ontology/ICD10CM/K28.0|DOID:10927|http://identifiers.org/snomedct/4269005|UMLS:C0156044|UMLS:C0156045|UMLS:C0156042|UMLS:C0156048|UMLS:C0156047|UMLS:C0156050	
GO:0050778	biolink:NamedThing	positive regulation of immune response	Any process that activates or increases the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus.		mondo.json	stimulation of immune response|upregulation of immune response|up-regulation of immune response|up regulation of immune response	http://purl.obolibrary.org/obo/GO_0050778		
GO:0050776	biolink:NamedThing	regulation of immune response	Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0050776		
MONDO:0001159	biolink:Disease	multiple personality disorder	A disorder characterized by the presence of two or more identities with distinct patterns of perception and personality which recurrently take control of the person's behavior; this is accompanied by a retrospective gap in memory of important personal information that far exceeds ordinary forgetfulness. The changes in identity are not due to substance use or to a general medical condition.	ICD9:300.14|ICD10CM:F44.81|MESH:D009105|SCTID:31611000|DOID:10934|NCIT:C94330	mondo.json	dissociative identity disorder	http://purl.obolibrary.org/obo/MONDO_0001159	http://identifiers.org/snomedct/31611000|DOID:10934|NCIT:C94330|http://identifiers.org/mesh/D009105|http://purl.bioontology.org/ontology/ICD10CM/F44.81	
GO:0050777	biolink:NamedThing	negative regulation of immune response	Any process that stops, prevents, or reduces the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus.		mondo.json	down-regulation of immune response|down regulation of immune response|inhibition of immune response|downregulation of immune response	http://purl.obolibrary.org/obo/GO_0050777		
MONDO:0001150	biolink:Disease	hydrocephalus	A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain.	MESH:D006849|ICD10CM:G91|NCIT:C3111|SCTID:230745008|DOID:10908	mondo.json	hydrocephalus, X-linked|hydrocephalus, nonsyndromic, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0001150	NCIT:C3111|DOID:10908|http://identifiers.org/snomedct/230745008|http://purl.bioontology.org/ontology/ICD10CM/G91|http://identifiers.org/mesh/D006849	
MONDO:0001154	biolink:Disease	Siberian tick typhus	A spotted fever that has material basis in Rickettsia sibirica, which is transmitted by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has symptom fever, has symptom eschar, has symptom regional adenopathy, and has symptom maculopapular rash.	UMLS:C0549160|ICD9:082.2|SCTID:186781003|DOID:10921	mondo.json	North Asian tick typhus|North Asian tick fever (disorder) [ambiguous]|Rickettsia sibirica spotted fever|Manchurian typhus|North Asian tick fever	http://purl.obolibrary.org/obo/MONDO_0001154	DOID:10921|http://identifiers.org/snomedct/186781003|UMLS:C0549160	
MONDO:0001153	biolink:Disease	gender dysphoria	A marked difference between the individual's expressed/experienced gender and the gender others would assign him or her, and it must continue for at least six months. (from DSM-5)	SCTID:93461009|ICD9:302.50|Orphanet:459690|MESH:D000068116|DOID:10919	mondo.json	transsexualism	http://purl.obolibrary.org/obo/MONDO_0001153	http://identifiers.org/mesh/D000068116|http://identifiers.org/snomedct/93461009|Orphanet:459690	
MONDO:0001152	biolink:Disease	amnestic disorder	Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories.	ICD9:294.0|DOID:10914|EFO:1001454|SCTID:3298001	mondo.json	amnesic syndrome|amnesia|amnestic syndrome|Korsakoff's psychosis or syndrome	http://purl.obolibrary.org/obo/MONDO_0001152	DOID:10914|http://identifiers.org/snomedct/3298001	
MONDO:0025100	biolink:Disease	mastitis, bovine	Inflammation of the udder in cows.	UMLS:C0024895|EFO:1001765|MESH:D008414	mondo.json	Mastitides, bovine|bovine mastitis|bovine Mastitides	http://purl.obolibrary.org/obo/MONDO_0025100	UMLS:C0024895|http://identifiers.org/mesh/D008414	
MONDO:0001151	biolink:Disease	benign essential hypertension	A condition of mild to moderate high blood pressure that has no identifiable cause.	DOID:10913|ICD9:401.1|SCTID:1201005|UMLS:C0155583	mondo.json	benign essential hypertension	http://purl.obolibrary.org/obo/MONDO_0001151	DOID:10913|http://identifiers.org/snomedct/1201005|UMLS:C0155583	
MONDO:0013125	biolink:Disease	CLAPO syndrome	CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O).	OMIM:613089|SCTID:717765001|UMLS:C2751313|MESH:C567763|Orphanet:168984	mondo.json	capillary malformation of the LOWER LIP, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth|CLAPO syndrome, somatic|Clapo|Lopez-Gutierrez syndrome	http://purl.obolibrary.org/obo/MONDO_0013125	UMLS:C2751313|https://omim.org/entry/613089|http://identifiers.org/snomedct/717765001|Orphanet:168984|http://identifiers.org/mesh/C567763	ordo_malformation_syndrome
MONDO:0015788	biolink:Disease	symptomatic form of hemophilia B in female carriers	A form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX.	Orphanet:177929|UMLS:CN200370	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015788	UMLS:CN200370|Orphanet:177929	ordo_clinical_subtype
HGNC:14988	biolink:NamedThing	POFUT1			mondo.json		http://identifiers.org/hgnc/14988		
MONDO:0015787	biolink:Disease	symptomatic form of hemophilia A in female carriers	A form of hemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII.	Orphanet:177926|UMLS:CN200369	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015787	UMLS:CN200369|Orphanet:177926	ordo_clinical_subtype
MONDO:0013126	biolink:Disease	obsolete Bartter syndrome, type 4B		UMLS:C2751312	mondo.json		http://purl.obolibrary.org/obo/MONDO_0013126		
MONDO:0013123	biolink:Disease	atrial septal defect 6	Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene.	DOID:0110111|UMLS:C2751315|OMIM:613087|MESH:C567764	mondo.json	atrial heart septal defect caused by mutation in TLL1|TLL1 atrial heart septal defect|atrial septal defect 6|atrial heart septal defect type 6|atrial septal defect type 6|ASD6	http://purl.obolibrary.org/obo/MONDO_0013123	https://omim.org/entry/613087|http://identifiers.org/mesh/C567764|DOID:0110111|UMLS:C2751315	
MONDO:0015786	biolink:Disease	Prader-Willi syndrome due to imprinting mutation		Orphanet:177910|UMLS:CN200368	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015786	UMLS:CN200368|Orphanet:177910	ordo_etiological_subtype
MONDO:0013124	biolink:Disease	pelvic organ prolapse, susceptibility to, 2		OMIM:613088	mondo.json	pelvic organ prolapse, susceptibility to, type 2|pelvic organ prolapse, susceptibility to, 2|Pvop2	http://purl.obolibrary.org/obo/MONDO_0013124	https://omim.org/entry/613088	predisposition
MONDO:0015785	biolink:Disease	Prader-Willi syndrome due to translocation		UMLS:CN200367|Orphanet:177907	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015785	UMLS:CN200367|Orphanet:177907	ordo_etiological_subtype
MONDO:0013129	biolink:Disease	cone dystrophy 4	Any cone dystrophy in which the cause of the disease is a mutation in the PDE6C gene.	NCIT:C164226|MESH:C567758|OMIM:613093|Orphanet:49382	mondo.json	PDE6C cone dystrophy|cone dystrophy type 4|COD4|cone dystrophy 4|cone dystrophy caused by mutation in PDE6C|achromatopsia 5	http://purl.obolibrary.org/obo/MONDO_0013129	https://omim.org/entry/613093|NCIT:C164226|http://identifiers.org/mesh/C567758	
MONDO:0013127	biolink:Disease	asphyxiating thoracic dystrophy 3	An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.	NCIT:C163755|SCTID:254051008|Orphanet:93271|OMIM:613091|SCTID:27330009|ICD9:759.89|DOID:0050549|DOID:0110087|GARD:0004835|GARD:0004834|MESH:C537602|Orphanet:93270|UMLS:C0432197	mondo.json	polydactyly with neonatal chondrodystrophy type 1|short rib-polydactyly syndrome type 3|short rib polydactyly syndrome Verma Naumoff type|polydactyly with neonatal chondrodystrophy type III|Saldino-Noonan syndrome|short rib-polydactyly syndrome Saldino-Noonan type|short rib-polydactyly syndrome type 1|short-rib thoracic dysplasia 3 with or without polydactyly|ATD3|asphyxiating thoracic dystrophy type 3|SRPS2B|SRPS3|SRPS type 3|polydactyly with neonatal chondrodystrophy, type I|SRPS type 1|SRPS1|SRTD3|short rib-polydactyly syndrome, type IIB|type I short rib polydactyly syndrome|short rib-polydactyly syndrome type III|polydactyly with neonatal chondrodystrophy, type 3|short rib-polydactyly syndrome, type 2B|Verma-Naumoff syndrome|asphyxiating thoracic dystrophy 3	http://purl.obolibrary.org/obo/MONDO_0013127	UMLS:C0432197|https://omim.org/entry/613091|Orphanet:93270|Orphanet:93271|http://identifiers.org/snomedct/254051008|http://identifiers.org/mesh/C537602|NCIT:C163755|DOID:0050549|DOID:0110087	ordo_malformation_syndrome
MONDO:0013128	biolink:Disease	familial juvenile hyperuricemic nephropathy type 2	Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).	Orphanet:217330|MESH:C567760|GARD:0013461|OMIM:613092|SCTID:721840000	mondo.json	hyperuricemic nephropathy, familial juvenile, 2|REN-associated familial juvenile hyperuricemic nephropathy|hyperuricemic nephropathy, familial juvenile, type 2|FJHN type 2|early-onset hyperuricemia, Anemia, and progressive kidney failure|REN-associated FJHN|familial juvenile hyperuricemic nephropathy type 2|REN-associated kidney disease|tubulointerstitial kidney disease, autosomal dominant, 4|autosomal dominant tubulointerstitial kidney disease due to mutations in REN|REN familial juvenile hyperuricemic nephropathy|HNFJ2|REN-related autosomal dominant tubulointerstitial kidney disease|familial juvenile hyperuricemic nephropathy caused by mutation in REN|ADTKD-REN	http://purl.obolibrary.org/obo/MONDO_0013128	https://omim.org/entry/613092|Orphanet:217330|http://identifiers.org/snomedct/721840000|http://identifiers.org/mesh/C567760	ordo_disease
MONDO:0015789	biolink:Disease	obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations		ICD10CM:E23.0|Orphanet:178025	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015789	Orphanet:178025	ordo_group_of_disorders
MONDO:0015780	biolink:Disease	dyskeratosis congenita	Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.	UMLS:C0265965|MESH:D019871|SCTID:74911008|Orphanet:1775|MedDRA:10062759|NCIT:C111802|OMIMPS:127550|GARD:0010905|DOID:2729	mondo.json	Hoyeraal-Hreidarsson syndrome|Zinsser Cole Engman syndrome|MONDO:DC|dyskeratosis congenita|Zinsser-Engman-Cole syndrome|DKC	http://purl.obolibrary.org/obo/MONDO_0015780	NCIT:C111802|http://identifiers.org/snomedct/74911008|Orphanet:1775|UMLS:C0265965|http://identifiers.org/mesh/D019871|DOID:2729|https://omim.org/phenotypicSeries/PS127550	clingen|gard_rare|ordo_disease
GO:0035150	biolink:NamedThing	regulation of tube size	Ensuring that a tube is of the correct length and diameter. Tube size must be maintained not only during tube formation, but also throughout development and in some physiological processes.		mondo.json		http://purl.obolibrary.org/obo/GO_0035150		
MONDO:0013121	biolink:Disease	glaucoma 3, primary congenital, C		OMIM:613085	mondo.json	GLC3C|glaucoma 3, primary congenital, C	http://purl.obolibrary.org/obo/MONDO_0013121	https://omim.org/entry/613085	
MONDO:0015784	biolink:Disease	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		Orphanet:177904|DECIPHER:53|UMLS:CN200366	mondo.json	Prader-Willi Syndrome (Type 2)	http://purl.obolibrary.org/obo/MONDO_0015784	UMLS:CN200366|Orphanet:177904	ordo_etiological_subtype
NCBITaxon:11250	biolink:OrganismalEntity	Human orthopneumovirus		GC_ID:1	mondo.json	HRSV|Human respiratory syncytial virus|human RSV	http://purl.obolibrary.org/obo/NCBITaxon_11250		
GO:0050770	biolink:NamedThing	regulation of axonogenesis	Any process that modulates the frequency, rate or extent of axonogenesis, the generation of an axon, the long process of a neuron.		mondo.json		http://purl.obolibrary.org/obo/GO_0050770		
MONDO:0013122	biolink:Disease	glaucoma 3, primary congenital, D		UMLS:C2751316|OMIM:613086|MESH:C567765	mondo.json	glaucoma 3, primary congenital, type D|GLC3D|glaucoma 3, primary congenital, D	http://purl.obolibrary.org/obo/MONDO_0013122	https://omim.org/entry/613086|http://identifiers.org/mesh/C567765|UMLS:C2751316	
GO:0050771	biolink:NamedThing	negative regulation of axonogenesis	Any process that stops, prevents, or reduces the frequency, rate or extent of axonogenesis.		mondo.json	down regulation of axonogenesis|inhibition of axonogenesis|down-regulation of axonogenesis|downregulation of axonogenesis	http://purl.obolibrary.org/obo/GO_0050771		
MONDO:0015783	biolink:Disease	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		Orphanet:177901|UMLS:CN200365|DECIPHER:14	mondo.json	Prader-Willi syndrome (Type 1)	http://purl.obolibrary.org/obo/MONDO_0015783	UMLS:CN200365|Orphanet:177901	ordo_etiological_subtype
MONDO:0015782	biolink:Disease	dysmorphism-cleft palate-loose skin syndrome	Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congential, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss.	Orphanet:1779|UMLS:CN200364	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015782	UMLS:CN200364|Orphanet:1779	ordo_malformation_syndrome
MONDO:0013120	biolink:Disease	46,XY sex reversal 5		DOID:0111776|OMIM:613080|MESH:C567766|UMLS:C2751317	mondo.json	46XY sex reversal 5|46,XY gonadal dysgenesis, complete, Cbx2-related|46,XY sex reversal 5|46,XY SEX reversal 5|46,XY Sex reversal type 5|disorder of Sex development, 46,XY, Cbx2-related|SRXY5|Sex reversal, XY, Cbx2-related|46,XY Sex reversal, Cbx2-related	http://purl.obolibrary.org/obo/MONDO_0013120	https://omim.org/entry/613080|http://identifiers.org/mesh/C567766|DOID:0111776|UMLS:C2751317	
MONDO:0015781	biolink:Disease	facial dysmorphism-shawl scrotum-joint laxity syndrome	Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.	UMLS:C2931522|Orphanet:1778|MESH:C537529|GARD:0004778|SCTID:716337006	mondo.json	Seaver Cassidy syndrome|hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies|facial dysmorphism shawl scrotum joint laxity|Seaver-Cassidy syndrome	http://purl.obolibrary.org/obo/MONDO_0015781	UMLS:C2931522|http://identifiers.org/snomedct/716337006|http://identifiers.org/mesh/C537529|Orphanet:1778	ordo_malformation_syndrome
ENVO:00000100	biolink:NamedThing	valley	A depression which has been formed as a result of erosion by water or ice and which is low-lying, bordered by higher ground, and especially elongate.		mondo.json	glacial trough|chasm|dale|median valley|glacial gorge|shelf valley|hollow|glen|water gap|goe|gulch|coulee|trench|ravine|gorge|re-entrant|lavaka|gully|graben|moat|seachannel|strath|vale	http://purl.obolibrary.org/obo/ENVO_00000100		
HGNC:12407	biolink:NamedThing	TUBA4A			mondo.json		http://identifiers.org/hgnc/12407		
HGNC:12412	biolink:NamedThing	TUBB2A			mondo.json		http://identifiers.org/hgnc/12412		
HGNC:12410	biolink:NamedThing	TUBA8			mondo.json		http://identifiers.org/hgnc/12410		
HGNC:12417	biolink:NamedThing	TUBG1			mondo.json		http://identifiers.org/hgnc/12417		
ENVO:00000109	biolink:NamedThing	woodland area	Land having a cover of trees, shrubs, or both.		mondo.json	monsoon forest|taiga|stand|copse|thorn forest|moor|mallee scrub|motte|grove|mott|wooded area|silva|caatinga|garique|scrub|reforested area|equatorial rain forest|mulga|sagebrush|chanaral|wood|jungle|pine grove|tropical rain forest|mulga scrub|coniferous forest|thicket|brigalow|shrub|rain forest|deciduous forest|equatorial forest	http://purl.obolibrary.org/obo/ENVO_00000109		
ENVO:00000106	biolink:NamedThing	grassland area	An area in which grasses (Graminae) are a significant component of the vegetation.		mondo.json	grazing area|herbaceous area	http://purl.obolibrary.org/obo/ENVO_00000106		
OBO:ECTO_9002066	biolink:NamedThing	exposure to refrigerant	An exposure to refrigerant.		mondo.json	exposure to refrigerant	http://purl.obolibrary.org/obo/ECTO_9002066		
GO:0001932	biolink:NamedThing	regulation of protein phosphorylation	Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein.		mondo.json	regulation of protein amino acid phosphorylation	http://purl.obolibrary.org/obo/GO_0001932		
GO:0001933	biolink:NamedThing	negative regulation of protein phosphorylation	Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein.		mondo.json	downregulation of protein amino acid phosphorylation|down regulation of protein amino acid phosphorylation|inhibition of protein amino acid phosphorylation|negative regulation of protein amino acid phosphorylation|down-regulation of protein amino acid phosphorylation	http://purl.obolibrary.org/obo/GO_0001933		
GO:0001934	biolink:NamedThing	positive regulation of protein phosphorylation	Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.		mondo.json	positive regulation of protein amino acid phosphorylation|stimulation of protein amino acid phosphorylation|up regulation of protein amino acid phosphorylation|up-regulation of protein amino acid phosphorylation|activation of protein amino acid phosphorylation|upregulation of protein amino acid phosphorylation	http://purl.obolibrary.org/obo/GO_0001934		
ENVO:00000111	biolink:NamedThing	forested area	An area with a high density of trees. A small forest may be called a wood.		mondo.json	forest|wood	http://purl.obolibrary.org/obo/ENVO_00000111		
GO:0001942	biolink:NamedThing	hair follicle development	The process whose specific outcome is the progression of the hair follicle over time, from its formation to the mature structure. A hair follicle is a tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open.		mondo.json		http://purl.obolibrary.org/obo/GO_0001942		
CHEBI:50406	biolink:ChemicalSubstance	probe	A role played by a molecular entity used to study the microscopic environment.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_50406		
UBERON:0014852	biolink:AnatomicalEntity	chorda tendinea of right ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014852		
HP:0010674	biolink:PhenotypicFeature	Abnormality of the curvature of the vertebral column	The presence of an abnormal curvature of the vertebral column.	UMLS:C4023747	mondo.json	Abnormal curve of the spine|Curvature of spine|Curved spine|Abnormal curving of the spine|Abnormal curve of the backbone	http://purl.obolibrary.org/obo/HP_0010674		
UBERON:0014851	biolink:AnatomicalEntity	chorda tendinea of left ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014851		
HGNC:12423	biolink:NamedThing	TULP1			mondo.json		http://identifiers.org/hgnc/12423		
HGNC:12428	biolink:NamedThing	TWIST1			mondo.json		http://identifiers.org/hgnc/12428		
UBERON:0000211	biolink:AnatomicalEntity	ligament			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000211		
HGNC:12420	biolink:NamedThing	TUFM			mondo.json		http://identifiers.org/hgnc/12420		
GO:0001944	biolink:NamedThing	vasculature development	The process whose specific outcome is the progression of the vasculature over time, from its formation to the mature structure. The vasculature is an interconnected tubular multi-tissue structure that contains fluid that is actively transported around the organism.		mondo.json	vascular system development	http://purl.obolibrary.org/obo/GO_0001944		
HGNC:9751	biolink:NamedThing	QARS1			mondo.json		http://identifiers.org/hgnc/9751		
HGNC:9752	biolink:NamedThing	QDPR			mondo.json		http://identifiers.org/hgnc/9752		
UBERON:0002871	biolink:AnatomicalEntity	hypoglossal nucleus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002871		
CHEBI:25435	biolink:ChemicalSubstance	mutagen	An agent that increases the frequency of mutations above the normal background level, usually by interacting directly with DNA and causing it damage, including base substitution.		mondo.json	mutagenos|mutagene|mutagenic agent|mutagenes|mutagens|mutageno	http://purl.obolibrary.org/obo/CHEBI_25435		
NCBITaxon:35497	biolink:OrganismalEntity	Suina		GC_ID:1	mondo.json	Suiformes	http://purl.obolibrary.org/obo/NCBITaxon_35497		
NCBITaxon:35493	biolink:OrganismalEntity	Streptophyta		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_35493		
HP:0032016	biolink:PhenotypicFeature	Abnormal sputum	Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin.		mondo.json	Abnormal sputum morphology	http://purl.obolibrary.org/obo/HP_0032016		
HGNC:7105	biolink:NamedThing	MITF			mondo.json		http://identifiers.org/hgnc/7105		
HGNC:9768	biolink:NamedThing	RAB28			mondo.json		http://identifiers.org/hgnc/9768		
HGNC:7104	biolink:NamedThing	MIPEP			mondo.json		http://identifiers.org/hgnc/7104		
HGNC:9766	biolink:NamedThing	RAB27A			mondo.json		http://identifiers.org/hgnc/9766		
HGNC:7106	biolink:NamedThing	ATXN3			mondo.json		http://identifiers.org/hgnc/7106		
HP:0010668	biolink:PhenotypicFeature	Abnormal zygomatic bone morphology	An abnormality of the zygomatic bone.	UMLS:C4023749	mondo.json	Deformity of the zygomatic bone|Malformation of the zygomatic bone|Abnormality of the zygomatic bone|Anomaly of the zygomatic bone|Deformity of the cheekbone|Abnormality of the cheekbone	http://purl.obolibrary.org/obo/HP_0010668		
HGNC:7108	biolink:NamedThing	MKKS			mondo.json		http://identifiers.org/hgnc/7108		
UBERON:0000200	biolink:AnatomicalEntity	gyrus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000200		
CHR:9606-chr6q24-q25	biolink:NamedThing	6q24-q25 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr6q24-q25		
UBERON:0000203	biolink:AnatomicalEntity	pallium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000203		
GO:0001910	biolink:NamedThing	regulation of leukocyte mediated cytotoxicity	Any process that modulates the frequency, rate, or extent of leukocyte mediated cytotoxicity.		mondo.json	regulation of immune cell mediated cytotoxicity|regulation of leucocyte mediated cytotoxicity|regulation of immune cell mediated cell death|regulation of immune cell mediated cell killing	http://purl.obolibrary.org/obo/GO_0001910		
GO:0001911	biolink:NamedThing	negative regulation of leukocyte mediated cytotoxicity	Any process that stops, prevents, or reduces the rate of leukocyte mediated cytotoxicity.		mondo.json	down-regulation of leukocyte mediated cytotoxicity|down regulation of leukocyte mediated cytotoxicity|downregulation of leukocyte mediated cytotoxicity|inhibition of leukocyte mediated cytotoxicity|negative regulation of immune cell mediated cytotoxicity|negative regulation of leucocyte mediated cytotoxicity	http://purl.obolibrary.org/obo/GO_0001911		
GO:0001912	biolink:NamedThing	positive regulation of leukocyte mediated cytotoxicity	Any process that activates or increases the frequency, rate or extent of leukocyte mediated cytotoxicity.		mondo.json	activation of leukocyte mediated cytotoxicity|stimulation of leukocyte mediated cytotoxicity|upregulation of leukocyte mediated cytotoxicity|positive regulation of immune cell mediated cytotoxicity|positive regulation of leucocyte mediated cytotoxicity|up-regulation of leukocyte mediated cytotoxicity|up regulation of leukocyte mediated cytotoxicity	http://purl.obolibrary.org/obo/GO_0001912		
HGNC:7103	biolink:NamedThing	MIP			mondo.json		http://identifiers.org/hgnc/7103		
HGNC:7102	biolink:NamedThing	MINPP1			mondo.json		http://identifiers.org/hgnc/7102		
OBO:ECTO_0000979	biolink:NamedThing	exposure to temperature of environmental surroundings	A exposure event involving the interaction of an exposure receptor to temperature of environmental material.		mondo.json	temperature of environmental material exposure	http://purl.obolibrary.org/obo/ECTO_0000979		
OBO:ECTO_9002063	biolink:NamedThing	exposure to food component	An exposure to food component.		mondo.json	exposure to food component	http://purl.obolibrary.org/obo/ECTO_9002063		
OBO:ECTO_9002062	biolink:NamedThing	exposure to food propellant	An exposure to food propellant.		mondo.json	exposure to food propellant	http://purl.obolibrary.org/obo/ECTO_9002062		
HP:0010651	biolink:PhenotypicFeature	Abnormal meningeal morphology	An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater.	UMLS:C4023758	mondo.json	Abnormality of the meninges	http://purl.obolibrary.org/obo/HP_0010651		
CHEBI:25442	biolink:ChemicalSubstance	mycotoxin	Poisonous substance produced by fungi.		mondo.json	mycotoxins|fungal toxins	http://purl.obolibrary.org/obo/CHEBI_25442		
HGNC:12406	biolink:NamedThing	TUB			mondo.json		http://identifiers.org/hgnc/12406		
HGNC:12405	biolink:NamedThing	TTR			mondo.json		http://identifiers.org/hgnc/12405		
HGNC:12404	biolink:NamedThing	TTPA			mondo.json		http://identifiers.org/hgnc/12404		
HGNC:12403	biolink:NamedThing	TTN			mondo.json		http://identifiers.org/hgnc/12403		
OBO:ECTO_0000980	biolink:NamedThing	exposure to temperature of air in surroundings	A exposure event involving the interaction of an exposure receptor to temperature of air.		mondo.json	temperature of air exposure	http://purl.obolibrary.org/obo/ECTO_0000980		
HGNC:7114	biolink:NamedThing	MKRN3			mondo.json		http://identifiers.org/hgnc/7114		
OBO:ECTO_9002059	biolink:NamedThing	exposure to food packaging gas	An exposure to food packaging gas.		mondo.json	exposure to food packaging gas	http://purl.obolibrary.org/obo/ECTO_9002059		
MONDO:0003623	biolink:Disease	obsolete pancreatic acinar cell adenocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003623		
MONDO:0003624	biolink:Disease	acinic cell breast carcinoma	A breast adenocarcinoma characterized by the presence of serous (acinic cell) differentiation.	DOID:5743|NCIT:C40367|UMLS:C1515868	mondo.json	acinic cell breast carcinoma|acinar cell breast carcinoma|breast carcinoma of acinar cell	http://purl.obolibrary.org/obo/MONDO_0003624	UMLS:C1515868|DOID:5743|NCIT:C40367	
MONDO:0003625	biolink:Disease	obsolete MONDO:0003625			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003625		
MONDO:0003626	biolink:Disease	uterine ligament serous adenocarcinoma	A rare serous adenocarcinoma that arises from the uterine ligament.	DOID:5747|NCIT:C40136|UMLS:C1519872	mondo.json	uterine ligament serous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003626	DOID:5747|UMLS:C1519872|NCIT:C40136	
UBERON:0012240	biolink:AnatomicalEntity	urethral meatus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012240		
MONDO:0003620	biolink:Disease	peripheral nervous system disorder	A disease involving the peripheral nervous system.	SCTID:42658009|ICD9:356.9|DOID:574|NCIT:C27580|MESH:D010523|ICD9:350-359.99	mondo.json	peripheral nervous system disorder|nerve disease, peripheral|disease or disorder of peripheral nervous system|peripheral neuropathy|peripheral nerve diseases|peripheral nervous system disease or disorder|disease of peripheral nervous system|peripheral nerve disease|disorder of peripheral nervous system|disorder of the peripheral nervous system|peripheral nervous system disorders|nerve diseases, peripheral|peripheral nervous system disease|PNS (peripheral nervous system) diseases|PNS diseases|peripheral Neuropathies|PNS disease|neuropathy, peripheral	http://purl.obolibrary.org/obo/MONDO_0003620	DOID:574|http://identifiers.org/snomedct/42658009|http://identifiers.org/mesh/D010523|NCIT:C27580	
GO:0050900	biolink:NamedThing	leukocyte migration	The movement of a leukocyte within or between different tissues and organs of the body.		mondo.json	leucocyte trafficking|immune cell trafficking|leucocyte migration|immune cell migration|leukocyte trafficking	http://purl.obolibrary.org/obo/GO_0050900		
MONDO:0003621	biolink:Disease	small intestinal vasoactive intestinal peptide producing tumor	A neuroendocrine tumor that arises from the small intestine and produces vasoactive intestinal peptide.	NCIT:C27455|DOID:5740|UMLS:C1336009	mondo.json	small intestinal VIPoma|small intestinal VIP-producing neuroendocrine tumor|small intestinal VIP producing tumor|small intestinal VIP-producing NET|small intestinal vasoactive intestinal peptide producing tumor	http://purl.obolibrary.org/obo/MONDO_0003621	DOID:5740|UMLS:C1336009|NCIT:C27455	
MONDO:0003622	biolink:Disease	pancreatic vasoactive intestinal peptide producing tumor	A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It may or may not be associated with inappropriate secretion of VIP and an associated clinical syndrome.	NCIT:C27454|DOID:5741|UMLS:C2033037	mondo.json	pancreatic VIP-producing neuroendocrine tumor|pancreatic VIP producing NET|pancreatic vasoactive intestinal peptide producing tumor|pancreatic VIP producing tumor|pancreatic vasoactive intestinal peptide producing neoplasm|pancreatic VIP producing neoplasm	http://purl.obolibrary.org/obo/MONDO_0003622	DOID:5741|NCIT:C27454|UMLS:C2033037	
CHEBI:25414	biolink:ChemicalSubstance	monoatomic monocation			mondo.json	monoatomic monocations|monovalent inorganic cations	http://purl.obolibrary.org/obo/CHEBI_25414		
MONDO:0015609	biolink:Disease	advanced sleep phase syndrome	A very rare circadian rhythm sleep disorder characterized by very early sleep onset and offset possibly resulting in emotional and physical disruptions.	DOID:0050628|Orphanet:164736|GARD:0009242|ICD10CM:G47.2|SCTID:715829003|OMIMPS:604348	mondo.json	advanced sleep phase syndrome, familial|FASPS|familial advanced sleep phase syndrome|familial advanced sleep-phase syndrome	http://purl.obolibrary.org/obo/MONDO_0015609	https://omim.org/phenotypicSeries/PS604348|http://identifiers.org/snomedct/715829003|Orphanet:164736|DOID:0050628	ordo_disease
MONDO:0015608	biolink:Disease	acute myeloid leukemia and myelodysplastic syndromes related to radiation	Acute myeloid leukemia and myelodysplastic syndromes related to radiation represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure.	UMLS:CN199981|Orphanet:164726	mondo.json	AML and myelodysplastic syndromes related to radiation	http://purl.obolibrary.org/obo/MONDO_0015608	Orphanet:164726|UMLS:CN199981	ordo_disease
UBERON:0012242	biolink:AnatomicalEntity	internal urethral orifice			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012242		
MONDO:0015607	biolink:Disease	partial chromosome Y deletion	Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility.	Orphanet:1646|HGNC:11311|SCTID:717158001|MESH:C536297|GARD:0004230	mondo.json	Y-chromosome microdeletions|partial deletion of the long arm of the Y chromosome|partial deletion of Y|Male sterility due to chromosome Y deletion|partial deletion of Y chromosome short arm|partial deletion of chromosome Y	http://purl.obolibrary.org/obo/MONDO_0015607	Orphanet:1646|http://identifiers.org/mesh/C536297|http://identifiers.org/snomedct/717158001	ordo_malformation_syndrome|gard_rare
MONDO:0015606	biolink:Disease	Xp22.3 microdeletion syndrome	Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.	GARD:0013170|Orphanet:1643|SCTID:726733007|UMLS:CN199978	mondo.json	Del(X)(p23)	http://purl.obolibrary.org/obo/MONDO_0015606	http://identifiers.org/snomedct/726733007|Orphanet:1643|UMLS:CN199978	gard_rare|ordo_malformation_syndrome
UBERON:0012241	biolink:AnatomicalEntity	male urethral meatus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012241		
GO:0050907	biolink:NamedThing	detection of chemical stimulus involved in sensory perception	The series of events in which a chemical stimulus is received and converted into a molecular signal as part of sensory perception.		mondo.json	sensory perception, sensory transduction of chemical stimulus|sensory transduction of chemical stimulus during sensory perception|sensory perception, sensory detection of chemical stimulus|sensory transduction of chemical stimulus|sensory detection of chemical stimulus during sensory perception|sensory detection of chemical stimulus	http://purl.obolibrary.org/obo/GO_0050907		
UBERON:0012248	biolink:AnatomicalEntity	cervical mucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012248		
GO:0050908	biolink:NamedThing	detection of light stimulus involved in visual perception	The series of events involved in visual perception in which a light stimulus is received and converted into a molecular signal.		mondo.json	sensory transduction of light stimulus during visual perception|visual perception, detection of light stimulus|sensory transduction of light during visual perception|visual perception, sensory transduction of light stimulus|sensory detection of light stimulus during visual perception|visual perception, sensory transduction during perception of light|sensory detection of light during visual perception	http://purl.obolibrary.org/obo/GO_0050908		
UBERON:0012247	biolink:AnatomicalEntity	cervical gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012247		
GO:0050905	biolink:NamedThing	neuromuscular process	Any process pertaining to the functions of the nervous and muscular systems of an organism.		mondo.json	neuromotor process|neuromuscular physiological process	http://purl.obolibrary.org/obo/GO_0050905		
UBERON:0012246	biolink:AnatomicalEntity	thyroid follicular lumen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012246		
GO:0050906	biolink:NamedThing	detection of stimulus involved in sensory perception	The series of events involved in sensory perception in which a sensory stimulus is received and converted into a molecular signal.		mondo.json	sensory perception, stimulus detection|sensory detection of stimulus|sensory transduction|sensory perception, sensory transduction of stimulus	http://purl.obolibrary.org/obo/GO_0050906		
MONDO:0015612	biolink:Disease	Dent disease	Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.	DOID:0050699|OMIM:300554|GARD:0013105|UMLS:C1839874|UMLS:CN239269|MedDRA:10069199|UMLS:C0878681|SCTID:444645005|OMIMPS:300009|MESH:D057973|Orphanet:1652|OMIM:308990|OMIM:310468|NCIT:C123260	mondo.json	renal Fanconi syndrome with nephrocalcinosis and renal stones|Dents disease|low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis|X-linked recessive hypercalciuric hypophosphatemic rickets|X-linked recessive hypophosphatemic rickets|Dent's disease|Dent syndrome|X-linked recessive nephrolithiasis|Dent disease 2|Dent disease 1	http://purl.obolibrary.org/obo/MONDO_0015612	Orphanet:1652|DOID:0050699|https://omim.org/phenotypicSeries/PS300009|http://identifiers.org/snomedct/444645005|UMLS:C0878681|NCIT:C123260|UMLS:CN239269|http://identifiers.org/mesh/D057973	ordo_disease
HGNC:7127	biolink:NamedThing	MLH1			mondo.json		http://identifiers.org/hgnc/7127		
MONDO:0015611	biolink:Disease	neutral lipid storage disease	Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished.	DOID:0050729|GARD:0003262|Orphanet:165|UMLS:CN199983	mondo.json	lipidosis with triglyceride storage disease|Chanarin-Dorfman syndrome|lipidosis with triglycerid storage disease	http://purl.obolibrary.org/obo/MONDO_0015611	Orphanet:165|DOID:0050729|UMLS:CN199983	disease_grouping|ordo_group_of_disorders
MONDO:0015610	biolink:Disease	acquired aplastic anemia	An instance of aplastic anemia that is acquired during the lifetime of the individual.	SCTID:55907008|Orphanet:164823|UMLS:C0271907|EFO:0006926	mondo.json	rare acquired aplastic anemia|acquired aplastic anemia	http://purl.obolibrary.org/obo/MONDO_0015610	UMLS:C0271907|Orphanet:164823|http://identifiers.org/snomedct/55907008	ordo_group_of_disorders|disease_grouping
HGNC:9788	biolink:NamedThing	RAB7A			mondo.json		http://identifiers.org/hgnc/9788		
UBERON:0012239	biolink:AnatomicalEntity	urinary bladder vasculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012239		
GO:2001198	biolink:NamedThing	regulation of dendritic cell differentiation	Any process that modulates the frequency, rate or extent of dendritic cell differentiation.		mondo.json		http://purl.obolibrary.org/obo/GO_2001198		
GO:2001199	biolink:NamedThing	negative regulation of dendritic cell differentiation	Any process that stops, prevents or reduces the frequency, rate or extent of dendritic cell differentiation.		mondo.json		http://purl.obolibrary.org/obo/GO_2001199		
HGNC:7128	biolink:NamedThing	MLH3			mondo.json		http://identifiers.org/hgnc/7128		
MONDO:0015616	biolink:Disease	obsolete rare genetic intestinal disease		UMLS:CN199992|Orphanet:165655	mondo.json	genetic intestinal disease	http://purl.obolibrary.org/obo/MONDO_0015616	Orphanet:165655|UMLS:CN199992	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0015615	biolink:Disease	obsolete rare genetic gastroenterological disease		Orphanet:165652|UMLS:CN199991	mondo.json	rare genetic gastrointestinal system disease	http://purl.obolibrary.org/obo/MONDO_0015615	Orphanet:165652|UMLS:CN199991	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
NCBITaxon:577468	biolink:OrganismalEntity	Micrococcales incertae sedis		GC_ID:11	mondo.json	unclassified Micrococcineae	http://purl.obolibrary.org/obo/NCBITaxon_577468		
MONDO:0015614	biolink:Disease	dermatitis herpetiformis	Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance.	Orphanet:1656|MedDRA:10012468|EFO:1000684|Wikipedia:Dermatitis_herpetiformis|ICD9:694.0|NCIT:C26742|SCTID:111196000|DOID:8505|MESH:D003874|ICD10CM:L13.0|UMLS:C0011608	mondo.json	Durhing-Brocq disease|Duhring's disease|dermatosis herpetiformis|dermatitis herpetiformis	http://purl.obolibrary.org/obo/MONDO_0015614	http://identifiers.org/snomedct/111196000|Orphanet:1656|UMLS:C0011608|NCIT:C26742|DOID:8505|http://identifiers.org/mesh/D003874|http://purl.bioontology.org/ontology/ICD10CM/L13.0	ordo_disease
MONDO:0015613	biolink:Disease	dentin dysplasia	Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II.	SCTID:109492001|Orphanet:1653|DOID:701|MESH:D003805|ICD9:520.5	mondo.json	DD|dentinal dysplasia	http://purl.obolibrary.org/obo/MONDO_0015613	http://identifiers.org/snomedct/109492001|Orphanet:1653|DOID:701|http://identifiers.org/mesh/D003805	ordo_disease
OBO:ECTO_9002021	biolink:NamedThing	exposure to astringent	An exposure to astringent.		mondo.json	exposure to astringent	http://purl.obolibrary.org/obo/ECTO_9002021		
HGNC:7121	biolink:NamedThing	MKS1			mondo.json		http://identifiers.org/hgnc/7121		
MONDO:0003616	biolink:Disease	salpingitis isthmica nodosa	Formation of nodules in the isthmus of the fallopian tube due to fallopian tube diverticulosis. It may cause infertility or ectopic pregnancy.	SCTID:36742000|NCIT:C40119|DOID:5730|UMLS:C0269043	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003616	NCIT:C40119|http://identifiers.org/snomedct/36742000|DOID:5730|UMLS:C0269043	
MONDO:0003617	biolink:Disease	chronic salpingitis	Chronic inflammation of the fallopian tube. It usually follows an acute inflammatory attack.	NCIT:C40118|DOID:5731|SCTID:55551005|ICD10CM:N70.11|UMLS:C0269041	mondo.json	salpingitis, chronic	http://purl.obolibrary.org/obo/MONDO_0003617	NCIT:C40118|http://purl.bioontology.org/ontology/ICD10CM/N70.11|DOID:5731|http://identifiers.org/snomedct/55551005|UMLS:C0269041	
OBO:ECTO_9002028	biolink:NamedThing	exposure to greenhouse gas	An exposure to greenhouse gas.		mondo.json	exposure to greenhouse gas	http://purl.obolibrary.org/obo/ECTO_9002028		
MONDO:0003618	biolink:Disease	pyosalpinx	The presence of pus in the fallopian tube. It is usually caused by acute salpingitis. The fallopian tube is distended and filled with pus. Histologic examination reveals edema and acute and chronic inflammation. Symptoms include fever, vaginal discharge, and pelvic pain.	SCTID:397810006|UMLS:C0034220|NCIT:C34968|DOID:5732	mondo.json	pyosalpingitis	http://purl.obolibrary.org/obo/MONDO_0003618	http://identifiers.org/snomedct/397810006|DOID:5732|NCIT:C34968|UMLS:C0034220	
MONDO:0003619	biolink:Disease	salpingitis	Acute or chronic inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy.	NCIT:C26880|DOID:5733|SCTID:88157006|UMLS:C0036130|MESH:D012488	mondo.json	fallopian tube inflammation|inflammation of fallopian tube	http://purl.obolibrary.org/obo/MONDO_0003619	NCIT:C26880|http://identifiers.org/snomedct/88157006|DOID:5733|http://identifiers.org/mesh/D012488|UMLS:C0036130	
MONDO:0003634	biolink:Disease	proteinuria	The presence of abnormal amounts of protein in the urine.	ICD10CM:R80|MESH:D011507|DOID:576|ICD9:791.0	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003634	DOID:576|http://identifiers.org/mesh/D011507|http://purl.bioontology.org/ontology/ICD10CM/R80	
MONDO:0003635	biolink:Disease	sebaceous breast carcinoma	A very rare breast adenocarcinoma with sebaceous differentiation.	DOID:5760|NCIT:C40369|UMLS:C1519207	mondo.json	sebaceous adenocarcinoma of breast|breast sebaceous adenocarcinoma|sebaceous breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0003635	DOID:5760|UMLS:C1519207|NCIT:C40369	
MONDO:0003636	biolink:Disease	vulvar sebaceous carcinoma	A carcinoma that arises from the vulva. It is characterized by the presence of malignant basaloid glandular epithelial cells that resemble sebaceous epithelium and are arranged in cords and nests.	DOID:5761|NCIT:C40309|UMLS:C1520094	mondo.json	mammalian vulva sebaceous adenocarcinoma|sebaceous adenocarcinoma of mammalian vulva	http://purl.obolibrary.org/obo/MONDO_0003636	DOID:5761|UMLS:C1520094|NCIT:C40309	
MONDO:0003637	biolink:Disease	clear cell-sugar-tumor of the lung	A rare benign lung tumor with perivascular epithelioid cell differentiation. It is composed of round or oval cells with abundant clear or eosinophilic cytoplasm and distinct cell borders. The vast majority of patients are asymptomatic and the tumors are discovered incidentally. Excision is curative.	UMLS:C1333065|NCIT:C38152|DOID:5763	mondo.json	clear cell-Sugar-tumor of lung|clear cell-Sugar-tumor of the lung|lung clear cell-sugar-tumor|Sugar tumor|CCSTL|lung clear cell tumor	http://purl.obolibrary.org/obo/MONDO_0003637	DOID:5763|NCIT:C38152|UMLS:C1333065	
UBERON:0014891	biolink:AnatomicalEntity	brainstem white matter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014891		
MONDO:0003630	biolink:Disease	pancreatic serous cystadenocarcinoma	A metastasizing, slow-growing malignant epithelial neoplasm that arises from the exocrine pancreas. It is characterized by the presence of cysts and is composed of glycogen-rich malignant epithelial cells which produce a watery fluid. Signs and symptoms include upper gastrointestinal bleeding, weight loss, jaundice, and abdominal pain.	UMLS:C1335315|DOID:5751|NCIT:C5724|Orphanet:424073	mondo.json	pancreas serous adenocarcinoma|serous cystadenocarcinoma of the pancreas|pancreatic serous cystadenocarcinoma|serous cystadenocarcinoma of pancreas	http://purl.obolibrary.org/obo/MONDO_0003630	DOID:5751|NCIT:C5724|UMLS:C1335315|Orphanet:424073	ordo_disease
GO:0050910	biolink:NamedThing	detection of mechanical stimulus involved in sensory perception of sound	The series of events involved in the perception of sound vibration in which the vibration is received and converted into a molecular signal.		mondo.json	sensory detection of mechanical stimulus during perception of sound|perception of sound, sensory detection of mechanical stimulus|perception of sound, detection of mechanical stimulus|detection of sound|hearing, sensory transduction of sound|sensory transduction of mechanical stimulus during perception of sound|perception of sound, sensory transduction of mechanical stimulus|sensory transduction of sound	http://purl.obolibrary.org/obo/GO_0050910		
MONDO:0003631	biolink:Disease	cervical serous adenocarcinoma	A rare adenocarcinoma that arises from the cervix. It is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies are often seen.	NCIT:C40201|UMLS:C1516431|DOID:5752	mondo.json	cervical serous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003631	DOID:5752|UMLS:C1516431|NCIT:C40201	
GO:0050911	biolink:NamedThing	detection of chemical stimulus involved in sensory perception of smell	The series of events involved in the perception of smell in which an olfactory chemical stimulus is received and converted into a molecular signal.		mondo.json	sensory transduction of scent|sensory detection of chemical stimulus during perception of smell|sensory transduction of smell|perception of smell, sensory transduction of chemical stimulus|sensory detection of scent|sensory transduction of chemical stimulus during perception of smell|sensory detection of smell|perception of smell, sensory detection of chemical stimulus|perception of smell, detection of chemical stimulus	http://purl.obolibrary.org/obo/GO_0050911		
MONDO:0003632	biolink:Disease	endocervicitis	Inflammation of the endocervix.	UMLS:C0014127|SCTID:31354001|NCIT:C26762|DOID:5757	mondo.json	inflammation of endocervix|endocervix inflammation	http://purl.obolibrary.org/obo/MONDO_0003632	DOID:5757|http://identifiers.org/snomedct/31354001|NCIT:C26762|UMLS:C0014127	
MONDO:0003633	biolink:Disease	malignant mesenchymoma	A term describing a malignant soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.	GARD:0003369|NCIT:C4268|ICDO:8990/3|DOID:5758	mondo.json	mesenchymoma, malignant|mesenchymoma, malignant (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003633	DOID:5758|NCIT:C4268	
GO:0050912	biolink:NamedThing	detection of chemical stimulus involved in sensory perception of taste	The series of events involved in the perception of taste in which a gustatory chemical stimulus is received and converted into a molecular signal.		mondo.json	taste perception|perception of taste, sensory transduction of chemical stimulus|sensory transduction of taste|sensory detection of chemical stimulus during perception of taste|sensory detection of taste|sensory transduction of chemical stimulus during perception of taste|perception of taste, sensory detection of chemical stimulus|perception of taste, detection of chemical stimulus	http://purl.obolibrary.org/obo/GO_0050912		
UBERON:0014892	biolink:AnatomicalEntity	skeletal muscle organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014892		
MONDO:0015601	biolink:Disease	X-linked intellectual disability, van Esch type	X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism.	SCTID:718914002|UMLS:CN226711|OMIM:301030|Orphanet:163976	mondo.json	mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type|VEODS|Van Esch-O'Driscoll syndrome|Van Esch-O'Driscoll syndrome, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0015601	http://identifiers.org/snomedct/718914002|UMLS:CN226711|https://omim.org/entry/301030|Orphanet:163976	ordo_malformation_syndrome
MONDO:0015600	biolink:Disease	X-linked intellectual disability, Cilliers type	X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).	Orphanet:163971|UMLS:CN226710|SCTID:719013004	mondo.json	X-linked intellectual disability-microcephaly-testicular failure syndrome	http://purl.obolibrary.org/obo/MONDO_0015600	UMLS:CN226710|Orphanet:163971|http://identifiers.org/snomedct/719013004	ordo_disease
GO:0050909	biolink:NamedThing	sensory perception of taste	The series of events required for an organism to receive a gustatory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Gustation involves the direct detection of chemical composition, usually through contact with chemoreceptor cells. This is a neurological process.		mondo.json	taste|gustation|sense of taste|taste perception	http://purl.obolibrary.org/obo/GO_0050909		
MONDO:0015605	biolink:Disease	distal monosomy 9p	Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.	SCTID:763530000|Orphanet:1642|MESH:C538025	mondo.json	telomeric deletion 9p|monosomy 9pter|distal monosomy type 9p|distal deletion 9p	http://purl.obolibrary.org/obo/MONDO_0015605	http://identifiers.org/mesh/C538025|Orphanet:1642|http://identifiers.org/snomedct/763530000	ordo_malformation_syndrome
MONDO:0015604	biolink:Disease	middle ear anomaly		Orphanet:164004|MedDRA:10060957	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015604	Orphanet:164004	disease_grouping|ordo_group_of_disorders
MONDO:0015603	biolink:Disease	obsolete rare odontal or periodontal disorder		UMLS:CN226712|Orphanet:164001	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015603	Orphanet:164001|UMLS:CN226712	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
GO:0001909	biolink:NamedThing	leukocyte mediated cytotoxicity	The directed killing of a target cell by a leukocyte.		mondo.json	leucocyte mediated cytotoxicity|immune cell mediated cytotoxicity|immune cell mediated cell death|immune cell mediated cell killing	http://purl.obolibrary.org/obo/GO_0001909		
MONDO:0015602	biolink:Disease	obsolete developmental delay-deafness syndrome, Hildebrand type		Orphanet:163988|UMLS:CN199975	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015602	Orphanet:163988|UMLS:CN199975	
HGNC:7132	biolink:NamedThing	KMT2A			mondo.json		http://identifiers.org/hgnc/7132		
GO:0001906	biolink:NamedThing	cell killing	Any process in an organism that results in the killing of its own cells or those of another organism, including in some cases the death of the other organism. Killing here refers to the induction of death in one cell by another cell, not cell-autonomous death due to internal or other environmental conditions.		mondo.json	necrosis	http://purl.obolibrary.org/obo/GO_0001906		
MONDO:0003627	biolink:Disease	rheumatic pulmonary valve disease	A rheumatologic disorder that involves the pulmonary valve.	DOID:5748|UMLS:C0155579|SCTID:18687009|ICD9:397.1	mondo.json	rheumatologic disorder of pulmonary valve|rheumatic pulmonary incompetence|rheumatic disease of pulmonary valve|pulmonary valve rheumatologic disorder	http://purl.obolibrary.org/obo/MONDO_0003627	http://identifiers.org/snomedct/18687009|DOID:5748|UMLS:C0155579	
MONDO:0003628	biolink:Disease	pulmonary valve disorder	A disease involving the pulmonary valve.	DOID:5749|SCTID:76267008|NCIT:C78579|UMLS:C0034087|ICD9:424.3	mondo.json	pulmonary valve disease|disease or disorder of pulmonary valve|disease of pulmonary valve|pulmonary valve disease or disorder|pulmonary valve disorder|disorder of pulmonary valve	http://purl.obolibrary.org/obo/MONDO_0003628	NCIT:C78579|DOID:5749|http://identifiers.org/snomedct/76267008|UMLS:C0034087	
HGNC:7133	biolink:NamedThing	KMT2D			mondo.json		http://identifiers.org/hgnc/7133		
MONDO:0003629	biolink:Disease	uterine corpus serous adenocarcinoma	A serous adenocarcinoma that involves the uterine corpus.	NCIT:C27838|ONCOTREE:USC|DOID:5750|UMLS:C1336921	mondo.json	uterine papillary serous carcinoma|uterine serous carcinoma/uterine papillary serous carcinoma|body of uterus serous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003629	DOID:5750	
MONDO:0003601	biolink:Disease	mediastinum liposarcoma	A malignant adipose tissue neoplasm of the anterior, middle or posterior mediastinum.	UMLS:C1334663|DOID:5713|NCIT:C6614	mondo.json	mediastinal liposarcoma|mediastinum liposarcoma|lip mediastinum sarcoma|liposarcoma of mediastinum|liposarcoma of the mediastinum	http://purl.obolibrary.org/obo/MONDO_0003601	UMLS:C1334663|DOID:5713|NCIT:C6614	
MONDO:0003602	biolink:Disease	intracranial liposarcoma	A malignant adipose tissue neoplasm of the intracranial region.	UMLS:C1334242|DOID:5714|NCIT:C6973	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003602	UMLS:C1334242|DOID:5714|NCIT:C6973	
MONDO:0003603	biolink:Disease	non-functioning pituitary gland neoplasm	A hormone producing or non-producing pituitary gland adenoma or carcinoma, not associated with a hormonal syndrome.	NCIT:C4009|SCTID:448563005	mondo.json	non-functioning tumor of pituitary gland|non-functioning tumor of the pituitary|nonfunctional pituitary gland neoplasm|non-functioning tumor of pituitary|non-functioning neoplasm of the pituitary gland|non-functioning neoplasm of pituitary gland|Nonfunctioning pituitary tumor|non-functioning neoplasm of the pituitary|non-functioning pituitary gland tumor|non-functioning neoplasm of pituitary|non-functioning pituitary tumor|pituitary gland non-functioning endocrine neoplasm|non-functioning pituitary neoplasm|non-functioning endocrine neoplasm of pituitary gland|non-functioning pituitary gland neoplasm|non-functioning tumor of the pituitary gland	http://purl.obolibrary.org/obo/MONDO_0003603	http://identifiers.org/snomedct/448563005|NCIT:C4009	
OBO:ECTO_0000922	biolink:NamedThing	exposure to EC 3.5.1.4 (amidase) inhibitor	An exposure to EC 3.5.1.4 (amidase) inhibitor.		mondo.json	exposure to EC 3.5.1.4 (amidase) inhibitor	http://purl.obolibrary.org/obo/ECTO_0000922		
MONDO:0003604	biolink:Disease	functioning pituitary gland neoplasm	A hormone producing pituitary gland tumor, associated with a hormonal syndrome.	DOID:5716|ICD9:237.0|SCTID:448148000|UMLS:C3163678|NCIT:C7047|UMLS:C0851693	mondo.json	functioning pituitary tumor|functioning pituitary gland neoplasm|secretory pituitary tumor|hormone producing pituitary neoplasm|pituitary gland functioning endocrine neoplasm|hormone producing pituitary cancer|pituitary tumors, hormone producing|functioning endocrine neoplasm of pituitary gland|pituitary neoplasms, hormone producing|somatotropinoma|functioning pituitary neoplasm	http://purl.obolibrary.org/obo/MONDO_0003604	UMLS:C0851693|DOID:5716|NCIT:C7047|UMLS:C3163678|http://identifiers.org/snomedct/448148000	
GO:0050921	biolink:NamedThing	positive regulation of chemotaxis	Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient.		mondo.json	upregulation of chemotaxis|stimulation of chemotaxis|up regulation of chemotaxis|up-regulation of chemotaxis|activation of chemotaxis	http://purl.obolibrary.org/obo/GO_0050921		
GO:0050922	biolink:NamedThing	negative regulation of chemotaxis	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient.		mondo.json	down regulation of chemotaxis|inhibition of chemotaxis|down-regulation of chemotaxis|downregulation of chemotaxis	http://purl.obolibrary.org/obo/GO_0050922		
GO:0050920	biolink:NamedThing	regulation of chemotaxis	Any process that modulates the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient.		mondo.json		http://purl.obolibrary.org/obo/GO_0050920		
MONDO:0003600	biolink:Disease	cutaneous liposarcoma	A malignant adipose tissue neoplasm of the skin.	DOID:5712|UMLS:C1333175|NCIT:C5615	mondo.json	cutaneous liposarcoma|liposarcoma of zone of skin|liposarcoma of the skin|liposarcoma of skin|zone of skin liposarcoma|skin liposarcoma	http://purl.obolibrary.org/obo/MONDO_0003600	UMLS:C1333175|DOID:5712|NCIT:C5615	
UBERON:0014885	biolink:AnatomicalEntity	distal epiphysis of distal phalanx of manual digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014885		
UBERON:0014886	biolink:AnatomicalEntity	distal epiphysis of distal phalanx of manual digit			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014886		
UBERON:0014887	biolink:AnatomicalEntity	distal epiphysis of distal phalanx of digit			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014887		
UBERON:0014881	biolink:AnatomicalEntity	distal epiphysis of distal phalanx of manual digit 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014881		
HGNC:7146	biolink:NamedThing	TRPM1			mondo.json		http://identifiers.org/hgnc/7146		
OBO:ECTO_0000931	biolink:NamedThing	exposure to environmental contaminant	An exposure to environmental contaminant.		mondo.json	exposure to environmental contaminant	http://purl.obolibrary.org/obo/ECTO_0000931		
MONDO:0003612	biolink:Disease	uterine ligament cancer	A primary or metastatic malignant neoplasm that affects the uterine ligament.	NCIT:C126498|UMLS:C0864950|DOID:5727	mondo.json	cancer of uterine ligament|uterine ligament cancer|malignant uterine ligament neoplasm|malignant neoplasm of uterine ligament	http://purl.obolibrary.org/obo/MONDO_0003612	DOID:5727|NCIT:C126498|UMLS:C0864950	
MONDO:0003613	biolink:Disease	obsolete diffuse peritoneal leiomyomatosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003613		
MONDO:0003614	biolink:Disease	intravenous leiomyomatosis	A rare benign neoplasm characterized by the presence of smooth muscle cells growing within veins.	ICD9:238.1|SCTID:254883003|NCIT:C4518|GARD:0010802|DOID:5729|UMLS:C0346200	mondo.json	intravenous leiomyomatosis	http://purl.obolibrary.org/obo/MONDO_0003614	DOID:5729|NCIT:C4518|UMLS:C0346200|http://identifiers.org/snomedct/254883003	gard_rare
MONDO:0003615	biolink:Disease	nerve compression syndrome	Any nerve disorder caused by the entrapment and compression of a nerve.	MESH:D009408|SCTID:45781009|NCIT:C27221|DOID:573	mondo.json	entrapment neuropathy|peripheral nerve entrapment syndrome|compression neuropathy	http://purl.obolibrary.org/obo/MONDO_0003615	http://identifiers.org/mesh/D009408|DOID:573|NCIT:C27221|http://identifiers.org/snomedct/45781009	
MONDO:0003610	biolink:Disease	rete ovarii cystadenoma	An exceptionally rare cystadenoma that arises from the rete ovarii.	DOID:5725|NCIT:C40019|UMLS:C1514907	mondo.json	rete ovarii cystadenoma	http://purl.obolibrary.org/obo/MONDO_0003610	UMLS:C1514907|DOID:5725|NCIT:C40019	
HGNC:7150	biolink:NamedThing	MLYCD			mondo.json		http://identifiers.org/hgnc/7150		
NCBITaxon:359160	biolink:OrganismalEntity	BOP clade		GC_ID:1	mondo.json	BEP clade	http://purl.obolibrary.org/obo/NCBITaxon_359160		
MONDO:0003611	biolink:Disease	uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease	A benign mesonephric neoplasm that arises from the uterine ligament and occurs in women with von Hippel-Lindau disease. It is a cystic lesion characterized by the presence of multiple papillary excrescences.	DOID:5726|NCIT:C40142|UMLS:C3642324	mondo.json	uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease|uterine ligament papillary cystadenoma	http://purl.obolibrary.org/obo/MONDO_0003611	DOID:5726|UMLS:C3642324|NCIT:C40142	
UBERON:0014875	biolink:AnatomicalEntity	distal epiphysis of distal phalanx of pedal digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014875		
UBERON:0014876	biolink:AnatomicalEntity	distal epiphysis of distal phalanx of pedal digit			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014876		
UBERON:0014871	biolink:AnatomicalEntity	distal epiphysis of distal phalanx of pedal digit 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014871		
HGNC:7159	biolink:NamedThing	MMP13			mondo.json		http://identifiers.org/hgnc/7159		
MONDO:0003609	biolink:Disease	seminal vesicle cystadenoma	A rare benign cystadenoma that arises from the seminal vesicle.	UMLS:C1519234|DOID:5724|NCIT:C39907	mondo.json	seminal vesicle cystadenoma	http://purl.obolibrary.org/obo/MONDO_0003609	NCIT:C39907|DOID:5724|UMLS:C1519234	
HGNC:7154	biolink:NamedThing	MME			mondo.json		http://identifiers.org/hgnc/7154		
MONDO:0003605	biolink:Disease	obsolete adrenal neuroblastoma	OBSOLETE. A neuroblastoma arising from the adrenal gland.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0003605		
MONDO:0003606	biolink:Disease	adrenal medulla cancer	A malignant neoplasm involving the adrenal medulla	DOID:5719|UMLS:C0344456|GARD:0005755|NCIT:C4396|SCTID:371965009	mondo.json	malignant neoplasm of the adrenal medulla|malignant adrenal medulla tumor|adrenal medulla neoplasm|adrenal medulla tumor|malignant tumor of adrenal medulla|malignant adrenal medulla neoplasm|cancer of adrenal medulla|malignant tumor of the adrenal medulla|adrenal medulla cancer|malignant neoplasm of adrenal medulla	http://purl.obolibrary.org/obo/MONDO_0003606	NCIT:C4396|UMLS:C0344456|DOID:5719|http://identifiers.org/snomedct/371965009	gard_rare
HGNC:7155	biolink:NamedThing	MMP1			mondo.json		http://identifiers.org/hgnc/7155		
MONDO:0003607	biolink:Disease	neuritis of upper limb	A neuritis that involves the forelimb.	DOID:572|ICD9:354	mondo.json	neuritis of forelimb|forelimb neuritis	http://purl.obolibrary.org/obo/MONDO_0003607	DOID:572	
MONDO:0003608	biolink:Disease	optic atrophy	A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances.	ICD10CM:H47.2|SCTID:76976005|UMLS:C1744705|ICD9:377.10|ICD9:377.1|MESH:D009896|UMLS:C0029124|DOID:5723|NCIT:C34863	mondo.json	atrophy of optic disc	http://purl.obolibrary.org/obo/MONDO_0003608	UMLS:C0029124|UMLS:C1744705|http://identifiers.org/mesh/D009896|DOID:5723|NCIT:C34863|http://identifiers.org/snomedct/76976005|http://purl.bioontology.org/ontology/ICD10CM/H47.2	
GO:0035306	biolink:NamedThing	positive regulation of dephosphorylation	Any process that activates or increases the frequency, rate or extent of removal of phosphate groups from a molecule.		mondo.json	up-regulation of dephosphorylation|up regulation of dephosphorylation|activation of dephosphorylation|stimulation of dephosphorylation|upregulation of dephosphorylation	http://purl.obolibrary.org/obo/GO_0035306		
GO:1900077	biolink:NamedThing	negative regulation of cellular response to insulin stimulus	Any process that stops, prevents or reduces the frequency, rate or extent of cellular response to insulin stimulus.		mondo.json	down regulation of cellular response to insulin stimulus|downregulation of cellular response to insulin stimulus|inhibition of cellular response to insulin stimulus|down-regulation of cellular response to insulin stimulus	http://purl.obolibrary.org/obo/GO_1900077		
GO:1900076	biolink:NamedThing	regulation of cellular response to insulin stimulus	Any process that modulates the frequency, rate or extent of cellular response to insulin stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_1900076		
GO:1900078	biolink:NamedThing	positive regulation of cellular response to insulin stimulus	Any process that activates or increases the frequency, rate or extent of cellular response to insulin stimulus.		mondo.json	up-regulation of cellular response to insulin stimulus|up regulation of cellular response to insulin stimulus|activation of cellular response to insulin stimulus|upregulation of cellular response to insulin stimulus	http://purl.obolibrary.org/obo/GO_1900078		
HP:0010606	biolink:PhenotypicFeature	Hordeolum	An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling.	SNOMEDCT_US:397513003|UMLS:C4280376|MSH:D006726|UMLS:C0019917|SNOMEDCT_US:1489008	mondo.json	Stye of eyelid|Red bump on eyelid	http://purl.obolibrary.org/obo/HP_0010606		
GO:0035303	biolink:NamedThing	regulation of dephosphorylation	Any process that modulates the frequency, rate or extent of removal of phosphate groups from a molecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0035303		
GO:0035305	biolink:NamedThing	negative regulation of dephosphorylation	Any process the stops, prevents, or reduces the frequency, rate or extent of removal of phosphate groups from a molecule.		mondo.json	down regulation of dephosphorylation|downregulation of dephosphorylation|inhibition of dephosphorylation|down-regulation of dephosphorylation	http://purl.obolibrary.org/obo/GO_0035305		
ENVO:01000820	biolink:NamedThing	pedosphere	An astronomical body part which is composed of soil, subject to soil formation processes, and found on the surface of a lithosphere.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000820		
NCBITaxon:1897064	biolink:OrganismalEntity	Cryptococcus neoformans species complex		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1897064		
GO:0001990	biolink:NamedThing	regulation of systemic arterial blood pressure by hormone	The process in which hormones modulate the force with which blood passes through the circulatory system. A hormone is one of a group of substances formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells, in the same organism, upon which they have a specific regulatory action.		mondo.json	hormonal regulation of blood pressure|blood pressure regulation by hormone|hormonal control of blood pressure	http://purl.obolibrary.org/obo/GO_0001990		
GO:0001992	biolink:NamedThing	regulation of systemic arterial blood pressure by vasopressin	The regulation of blood pressure mediated by the signaling molecule vasopressin. Vasopressin is produced in the hypothalamus, and affects vasoconstriction, and renal water transport.		mondo.json	vasopressin control of blood pressure|blood pressure regulation by vasopressin	http://purl.obolibrary.org/obo/GO_0001992		
ENVO:01000845	biolink:NamedThing	crystal	A solid material whose constituents, such as atoms, molecules or ions, are arranged in a highly ordered microscopic structure, forming a crystal lattice that extends in all directions.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000845		
NCIT:C52005	biolink:NamedThing	Enterostomy			mondo.json		http://purl.obolibrary.org/obo/NCIT_C52005		
CHEBI:49475	biolink:ChemicalSubstance	argon atom			mondo.json	Ar|argon|18Ar|argon	http://purl.obolibrary.org/obo/CHEBI_49475		
ENVO:01000846	biolink:NamedThing	water ice crystal	A crystal which is primarily composed of water ice.		mondo.json	ice crystal	http://purl.obolibrary.org/obo/ENVO_01000846		
HGNC:9701	biolink:NamedThing	PURA			mondo.json		http://identifiers.org/hgnc/9701		
HGNC:9706	biolink:NamedThing	NECTIN1			mondo.json		http://identifiers.org/hgnc/9706		
GO:0001976	biolink:NamedThing	nervous system process involved in regulation of systemic arterial blood pressure	The regulation of blood pressure mediated by detection of stimuli and a neurological response.		mondo.json	fast control of arterial pressure|neurological process involved in regulation of systemic arterial blood pressure|blood pressure regulation by neurological process|neurological system process involved in regulation of systemic arterial blood pressure	http://purl.obolibrary.org/obo/GO_0001976		
GO:0001977	biolink:NamedThing	renal system process involved in regulation of blood volume	A slow mechanism of blood pressure regulation that responds to changes in pressure resulting from fluid and salt intake by modulating the quantity of blood in the circulatory system.		mondo.json	renal regulation of blood volume|renal blood volume control of blood pressure	http://purl.obolibrary.org/obo/GO_0001977		
GO:0001979	biolink:NamedThing	regulation of systemic arterial blood pressure by chemoreceptor signaling	The process that modulates blood pressure by the action of chemoreceptors found in the carotid and aortic bodies and their resultant modulation of the vasomotor center. Chemoreceptors respond to oxygen, carbon dioxide and hydrogen ions.		mondo.json	regulation of systemic arterial blood pressure by chemoreceptor signalling|chemoreceptor control of blood pressure|chemoreceptor regulation of systemic arterial blood pressure	http://purl.obolibrary.org/obo/GO_0001979		
UBERON:0002827	biolink:AnatomicalEntity	vestibulocochlear ganglion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002827		
UBERON:0002824	biolink:AnatomicalEntity	vestibular ganglion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002824		
HGNC:9713	biolink:NamedThing	PEX19			mondo.json		http://identifiers.org/hgnc/9713		
HGNC:9717	biolink:NamedThing	PEX2			mondo.json		http://identifiers.org/hgnc/9717		
UBERON:0002812	biolink:AnatomicalEntity	left cerebral hemisphere			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002812		
UBERON:0002811	biolink:AnatomicalEntity	left frontal lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002811		
UBERON:0002813	biolink:AnatomicalEntity	right cerebral hemisphere			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002813		
ENVO:01000817	biolink:NamedThing	biosphere	A biosphere is a part of an astronomical body which includes, as parts, all the living entities within the gravitational sphere of influence of that body, as well as the non-living and dead entities with which they interact.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000817		
ENVO:01000818	biolink:NamedThing	cryosphere	A cryosphere is that part of a planet which is primarily composed of water is in solid form.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000818		
HGNC:9719	biolink:NamedThing	PEX5			mondo.json		http://identifiers.org/hgnc/9719		
ENVO:01000819	biolink:NamedThing	hydrosphere	An astronomical body part which is composed of the combined mass of water found on, under, and over the surface of a planet.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000819		
ENVO:01000813	biolink:NamedThing	astronomical body part	A material part of an astronomical body.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000813		
ENVO:01000814	biolink:NamedThing	solid environmental material	An environmental material which is in a solid state.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000814		
ENVO:01000815	biolink:NamedThing	liquid environmental material	An environmental material which is in a liquid state.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000815		
HGNC:9725	biolink:NamedThing	PYGL			mondo.json		http://identifiers.org/hgnc/9725		
HGNC:9722	biolink:NamedThing	ALDH18A1			mondo.json		http://identifiers.org/hgnc/9722		
HGNC:9726	biolink:NamedThing	PYGM			mondo.json		http://identifiers.org/hgnc/9726		
HP:0010622	biolink:PhenotypicFeature	Neoplasm of the skeletal system	A tumor (abnormal growth of tissue) of the skeleton.	NCIT:C3262|UMLS:C2732838|UMLS:C4020771|SNOMEDCT_US:442868003	mondo.json	Neoplasia of the skeletal system|Skeletal tumor|Bone neoplasm|Skeletal tumour	http://purl.obolibrary.org/obo/HP_0010622		
GO:0001959	biolink:NamedThing	regulation of cytokine-mediated signaling pathway	Any process that modulates the frequency, rate or extent of the cytokine mediated signaling pathway.		mondo.json	regulation of cytokine mediated signalling pathway|regulation of cytokine and chemokine mediated signaling pathway|regulation of cytokine mediated signaling pathway	http://purl.obolibrary.org/obo/GO_0001959		
HGNC:9721	biolink:NamedThing	PYCR1			mondo.json		http://identifiers.org/hgnc/9721		
GO:0001956	biolink:NamedThing	positive regulation of neurotransmitter secretion	Any process that activates or increases the frequency, rate or extent of the regulated release of a neurotransmitter.		mondo.json	upregulation of neurotransmitter secretion|stimulation of neurotransmitter secretion|up regulation of neurotransmitter secretion|activation of neurotransmitter secretion|up-regulation of neurotransmitter secretion	http://purl.obolibrary.org/obo/GO_0001956		
GO:0001957	biolink:NamedThing	intramembranous ossification	Direct ossification that occurs within mesenchyme or an accumulation of relatively unspecialized cells.		mondo.json	intramembranous bone ossification|dermal ossification	http://purl.obolibrary.org/obo/GO_0001957		
GO:0001961	biolink:NamedThing	positive regulation of cytokine-mediated signaling pathway	Any process that activates or increases the frequency, rate or extent of a cytokine mediated signaling pathway.		mondo.json	positive regulation of cytokine mediated signalling pathway|up-regulation of cytokine mediated signaling pathway|positive regulation of cytokine and chemokine mediated signaling pathway|up regulation of cytokine mediated signaling pathway|activation of cytokine mediated signaling pathway|positive regulation of cytokine mediated signaling pathway|stimulation of cytokine mediated signaling pathway|upregulation of cytokine mediated signaling pathway	http://purl.obolibrary.org/obo/GO_0001961		
UBERON:0002805	biolink:AnatomicalEntity	right limbic lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002805		
UBERON:0002804	biolink:AnatomicalEntity	left limbic lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002804		
ENVO:01000800	biolink:NamedThing	planet	A planet is an astronomical body orbiting a star or stellar remnant that is massive enough to be rounded by its own gravity, is not massive enough to cause thermonuclear fusion, and has cleared its neighbouring region of planetesimals.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000800		
UBERON:0002807	biolink:AnatomicalEntity	right occipital lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002807		
UBERON:0002806	biolink:AnatomicalEntity	left occipital lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002806		
GO:0001964	biolink:NamedThing	startle response	An action or movement due to the application of a sudden unexpected stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0001964		
ENVO:01000801	biolink:NamedThing	star	An astronomical object which is composed primarily of luminous plasma held in a spherical form by gravitational forces.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000801		
CHEBI:50427	biolink:ChemicalSubstance	platelet aggregation inhibitor	A drug or agent which antagonizes or impairs any mechanism leading to blood platelet aggregation, whether during the phases of activation and shape change or following the dense-granule release reaction and stimulation of the prostaglandin-thromboxane system.		mondo.json	platelet aggregation inhibitors	http://purl.obolibrary.org/obo/CHEBI_50427		
UBERON:0002803	biolink:AnatomicalEntity	right parietal lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002803		
GO:0001960	biolink:NamedThing	negative regulation of cytokine-mediated signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of the cytokine mediated signaling pathway.		mondo.json	down regulation of cytokine mediated signaling pathway|inhibition of cytokine mediated signaling pathway|downregulation of cytokine mediated signaling pathway|negative regulation of cytokine and chemokine mediated signaling pathway|negative regulation of cytokine mediated signaling pathway|down-regulation of cytokine mediated signaling pathway|negative regulation of cytokine mediated signalling pathway	http://purl.obolibrary.org/obo/GO_0001960		
UBERON:0002802	biolink:AnatomicalEntity	left parietal lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002802		
UBERON:0002809	biolink:AnatomicalEntity	right temporal lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002809		
UBERON:0002808	biolink:AnatomicalEntity	left temporal lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002808		
ENVO:01000804	biolink:NamedThing	astronomical object	An object which is composed of one or more gravitationally bound structures that are associated with a position in space.		mondo.json	celestial object	http://purl.obolibrary.org/obo/ENVO_01000804		
UBERON:0002810	biolink:AnatomicalEntity	right frontal lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002810		
GO:0098840	biolink:NamedThing	protein transport along microtubule	The directed movement of a protein along a microtubule, mediated by motor proteins.		mondo.json	microtubule-based protein transport	http://purl.obolibrary.org/obo/GO_0098840		
ENVO:01000798	biolink:NamedThing	plasma	A material entity which is composed of a volume of unbound positive and negative particles in roughly equal numbers, conducts electricity, and possesses internal magnetic fields.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000798		
ENVO:01000799	biolink:NamedThing	astronomical body	An object which is naturally occuring, bound together by gravitational or electromagnetic forces, and surrounded by space.		mondo.json	celestial body	http://purl.obolibrary.org/obo/ENVO_01000799		
CHR:9606-chr20q11.2	biolink:NamedThing	20q11.2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr20q11.2		
MONDO:0001089	biolink:Disease	acute inferolateral myocardial infarction		UMLS:C0340308|ICD9:410.22|ICD9:410.21|ICD9:410.20|DOID:10649|SCTID:65547006	mondo.json	acute inferolateral myocardial infarction|acute myocardial infarction of inferolateral wall	http://purl.obolibrary.org/obo/MONDO_0001089	http://identifiers.org/snomedct/65547006|UMLS:C0340308|DOID:10649	
MONDO:0013070	biolink:Disease	spermatogenic failure 7		DOID:0070173|OMIM:612997|MESH:C567832|UMLS:C2751811	mondo.json	Male infertility, nonsyndromic, autosomal recessive|spermatogenic failure 7|SPGF7|spermatogenic failure type 7	http://purl.obolibrary.org/obo/MONDO_0013070	UMLS:C2751811|DOID:0070173|https://omim.org/entry/612997|http://identifiers.org/mesh/C567832	
ENVO:01000797	biolink:NamedThing	gaseous environmental material	A material entity which is composed of one or more chemical entities and has neither independent shape nor volume but tends to expand indefinitely.		mondo.json	gas	http://purl.obolibrary.org/obo/ENVO_01000797		
MONDO:0001084	biolink:Disease	primary optic atrophy		ICD9:377.11|UMLS:C0155291|DOID:10627|SCTID:21098003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001084	UMLS:C0155291|http://identifiers.org/snomedct/21098003|DOID:10627	
CL:0002548	biolink:Cell	fibroblast of cardiac tissue	A fibroblast that is part of the heart.		mondo.json	cardiac fibroblast	http://purl.obolibrary.org/obo/CL_0002548		
MONDO:0001083	biolink:Disease	Fanconi renotubular syndrome	A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.	MESH:D005198|DOID:1062|UMLS:C0015624|GARD:0009120|SCTID:40488004|NCIT:C3034	mondo.json	toni-debre-Fanconi syndrome|congenital Fanconi syndrome|infantile nephropathic cystinosis|Fanconi's syndrome|Fanconi-de-toni syndrome|adult Fanconi syndrome|deToni Fanconi syndrome|De toni-debre-Fanconi syndrome|Fanconi-de toni syndrome|Fanconi syndrome|De toni-Fanconi syndrome|Lignac-Fanconi syndrome	http://purl.obolibrary.org/obo/MONDO_0001083	http://identifiers.org/snomedct/40488004|DOID:1062|http://identifiers.org/mesh/D005198|NCIT:C3034|UMLS:C0015624	gard_rare
CL:0002547	biolink:Cell	fibroblast of the aortic adventitia	A fibroblast of the aortic adventitia.		mondo.json		http://purl.obolibrary.org/obo/CL_0002547		
MONDO:0001082	biolink:Disease	lymph node cancer	A primary or metastatic malignant tumor involving the lymph node. Lymphomas and metastatic carcinomas are representative examples. -- 2004	NCIT:C35812|ICD9:239.89|DOID:10619|SCTID:127232002	mondo.json	cancer of lymph node|malignant neoplasm of lymph node|malignant lymph node neoplasm|lymph node neoplasm|lymph node cancer	http://purl.obolibrary.org/obo/MONDO_0001082	DOID:10619|http://identifiers.org/snomedct/127232002|NCIT:C35812	
MONDO:0001081	biolink:Disease	acute cervicitis	Acute inflammation of the cervix. Clinical manifestations include mucopurulent vaginal discharge and burning sensation.	SCTID:19272000|NCIT:C27056|UMLS:C0269061|DOID:10616	mondo.json	cervicitis (disease), acute|acute cervicitis (disease)	http://purl.obolibrary.org/obo/MONDO_0001081	NCIT:C27056|UMLS:C0269061|http://identifiers.org/snomedct/19272000|DOID:10616	
CL:0002549	biolink:Cell	fibroblast of choroid plexus	A fibroblast that is part of the choroid plexus.		mondo.json		http://purl.obolibrary.org/obo/CL_0002549		
MONDO:0001088	biolink:Disease	acute inferoposterior infarction		UMLS:C0340304|ICD9:410.32|ICD9:410.31|SCTID:76593002|ICD9:410.30|DOID:10648	mondo.json	acute myocardial infarction of inferoposterior wall|acute inferoposterior myocardial infarction|acute inferoposterior infarction	http://purl.obolibrary.org/obo/MONDO_0001088	UMLS:C0340304|DOID:10648|http://identifiers.org/snomedct/76593002	
GO:1902652	biolink:NamedThing	secondary alcohol metabolic process	The chemical reactions and pathways involving secondary alcohol.		mondo.json	secondary alcohol metabolism	http://purl.obolibrary.org/obo/GO_1902652		
MONDO:0001087	biolink:Disease	schizotypal personality disorder	A disorder characterized by an enduring pattern of inability to establish close relationships coupled with cognitive or perceptual distortions, odd beliefs and speech, and eccentric behavior and appearance.	DOID:10646|MESH:D012569|SCTID:31027006|ICD9:301.22|NCIT:C92632	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001087	http://identifiers.org/mesh/D012569|NCIT:C92632|DOID:10646|http://identifiers.org/snomedct/31027006	
GO:1902653	biolink:NamedThing	secondary alcohol biosynthetic process	The chemical reactions and pathways resulting in the formation of secondary alcohol.		mondo.json	secondary alcohol synthesis|secondary alcohol formation|secondary alcohol anabolism|secondary alcohol biosynthesis	http://purl.obolibrary.org/obo/GO_1902653		
MONDO:0001086	biolink:Disease	partial optic atrophy		UMLS:C0155295|SCTID:111527005|DOID:10631|ICD9:377.15	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001086	http://identifiers.org/snomedct/111527005|UMLS:C0155295|DOID:10631	
MONDO:0001085	biolink:Disease	interstitial nephritis	Inflammation of the renal tubules and supporting tissues of the kidney.	UMLS:C0041349|SCTID:28689008|DOID:1063|MESH:D009395|NCIT:C26834|UMLS:C0027707|ICD10CM:N10-N16|ICD9:583.89	mondo.json	renal tubulo-interstitial disease|Tubulointerstitial nephritis	http://purl.obolibrary.org/obo/MONDO_0001085	UMLS:C0041349|DOID:1063|http://purl.bioontology.org/ontology/ICD10CM/N10-N16|NCIT:C26834|UMLS:C0027707|http://identifiers.org/snomedct/28689008|http://identifiers.org/mesh/D009395	
CL:0002540	biolink:Cell	mesenchymal stem cell of the bone marrow	A mesenchymal stem cell that is part of the bone marrow.		mondo.json		http://purl.obolibrary.org/obo/CL_0002540		
MONDO:0013079	biolink:Disease	primary biliary cholangitis 2		UMLS:C2751696|MESH:C567817|OMIM:613007	mondo.json	PBC2|biliary cirrhosis, primary, 2	http://purl.obolibrary.org/obo/MONDO_0013079	UMLS:C2751696|https://omim.org/entry/613007|http://identifiers.org/mesh/C567817	
CL:0002541	biolink:Cell	chorionic membrane mesenchymal stem cell	A mesenchymal stem cell of the chorionic membrane.		mondo.json		http://purl.obolibrary.org/obo/CL_0002541		
GO:0060235	biolink:NamedThing	lens induction in camera-type eye	Signaling at short range between the head ectoderm and the optic vesicle that results in the head ectoderm forming a lens.		mondo.json		http://purl.obolibrary.org/obo/GO_0060235		
MONDO:0001080	biolink:Disease	acute gonococcal cervicitis	Acute form of gonococcal cervicitis.	UMLS:C0153195|SCTID:20943002|ICD9:098.15|DOID:10615	mondo.json	gonococcal cervicitis, acute|acute gonorrhea of cervix|gonococcal cervicitis (acute)	http://purl.obolibrary.org/obo/MONDO_0001080	UMLS:C0153195|DOID:10615|http://identifiers.org/snomedct/20943002	
CL:0002543	biolink:Cell	vein endothelial cell	An endothelial cell that is part of the vein.	KUPO:0001099|FMA:62104	mondo.json	venous endothelial cell|endothelial cell of vein	http://purl.obolibrary.org/obo/CL_0002543		
CL:0002546	biolink:Cell	embryonic blood vessel endothelial progenitor cell	An endothelial progenitor cell that participates in angiogenesis during development.		mondo.json		http://purl.obolibrary.org/obo/CL_0002546		
MONDO:0013073	biolink:Disease	palmoplantar keratoderma, nonepidermolytic, focal 1	Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene.	OMIM:613000|DOID:0111709	mondo.json	keratoderma, focal nonepidermolytic palmoplantar|palmoplantar keratoderma, nonepidermolytic, focal 1|nonepidermolytic palmoplantar keratoderma caused by mutation in KRT16|palmoplantar keratoderma, nonepidermolytic, focal|FNEPPK1|focal nonepidermolytic palmoplantar keratoderma|palmoplantar keratoderma, nonepidermolytic, focal type 1|KRT16 nonepidermolytic palmoplantar keratoderma|Ppkfne	http://purl.obolibrary.org/obo/MONDO_0013073	DOID:0111709|https://omim.org/entry/613000	
MONDO:0013074	biolink:Disease	encephalocraniocutaneous lipomatosis	A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.	ICD9:757.8|NCIT:C4701|OMIM:613001|UMLS:C0406612|Orphanet:2396|MESH:C535736|GARD:0002108|SCTID:238905009	mondo.json	encephalocraniocutaneous lipomatosis|ECCL|Fishman syndrome|Haberland syndrome|encephalocraniocutaneous lipomatosis, somatic mosaic	http://purl.obolibrary.org/obo/MONDO_0013074	http://identifiers.org/mesh/C535736|https://omim.org/entry/613001|NCIT:C4701|Orphanet:2396|UMLS:C0406612|http://identifiers.org/snomedct/238905009	gard_rare|ordo_disease
MONDO:0013071	biolink:Disease	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene.	UMLS:C2751807|DOID:0070249|OMIM:612998|MESH:C567831	mondo.json	EDMD4|autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE1|EMERY-Dreifuss muscular dystrophy 4, autosomal dominant|Emery-Dreifuss muscular dystrophy 4 with variable features|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|SYNE1 autosomal dominant Emery-Dreifuss muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0013071	UMLS:C2751807|DOID:0070249|https://omim.org/entry/612998|http://identifiers.org/mesh/C567831	
MONDO:0013072	biolink:Disease	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene.	DOID:0070250|OMIM:612999|UMLS:C2751805	mondo.json	EDMD5|autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE2|EMERY-Dreifuss muscular dystrophy 5, autosomal dominant|Emery-Dreifuss muscular dystrophy 5, autosomal dominant|SYNE2 autosomal dominant Emery-Dreifuss muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0013072	UMLS:C2751805|DOID:0070250|https://omim.org/entry/612999	
MONDO:0013077	biolink:Disease	Santos syndrome		OMIM:613005|UMLS:C2751698|MESH:C567819	mondo.json	fibular agenesis/hypoplasia, oligodactylous clubfeet, and anonychia/nail hypoplasia syndrome|Santos syndrome	http://purl.obolibrary.org/obo/MONDO_0013077	UMLS:C2751698|https://omim.org/entry/613005|http://identifiers.org/mesh/C567819	
MONDO:0013078	biolink:Disease	type 1 diabetes mellitus 24	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q23.31.	OMIM:613006|UMLS:C2751697|MESH:C567818|DOID:0110761	mondo.json	insulin-dependent diabetes mellitus 24|IDDM24|diabetes mellitus, insulin-dependent, 24	http://purl.obolibrary.org/obo/MONDO_0013078	DOID:0110761|https://omim.org/entry/613006|UMLS:C2751697|http://identifiers.org/mesh/C567818	
MONDO:0013075	biolink:Disease	herpes simplex encephalitis, susceptibility to, 2		OMIM:613002	mondo.json	encephalopathy, acute, infection-induced, susceptibility to, 2|Herpes simplex encephalitis, susceptibility to, type 2|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 2|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 2|herpes simplex encephalitis, susceptibility to, 2|IIAE2	http://purl.obolibrary.org/obo/MONDO_0013075		predisposition
MONDO:0013076	biolink:Disease	attention deficit-hyperactivity disorder, susceptibility to, 7		OMIM:613003	mondo.json	susceptibility to attention deficit-hyperactivity disorder 7|attention Deficit-hyperactivity disorder, susceptibility to, type 7|ADHD7|attention deficit-hyperactivity disorder, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0013076	https://omim.org/entry/613003	predisposition
GO:1902669	biolink:NamedThing	positive regulation of axon guidance	Any process that activates or increases the frequency, rate or extent of axon guidance.		mondo.json	activation of axon chemotaxis|activation of axon guidance|upregulation of axon pathfinding|up-regulation of axon growth cone guidance|positive regulation of axon pathfinding|upregulation of axon guidance|up-regulation of axon chemotaxis|up regulation of axon growth cone guidance|up regulation of axon pathfinding|positive regulation of axon growth cone guidance|up regulation of axon chemotaxis|up-regulation of axon pathfinding|positive regulation of axon chemotaxis|activation of axon pathfinding|upregulation of axon growth cone guidance|up-regulation of axon guidance|activation of axon growth cone guidance|up regulation of axon guidance|upregulation of axon chemotaxis	http://purl.obolibrary.org/obo/GO_1902669		
GO:1902667	biolink:NamedThing	regulation of axon guidance	Any process that modulates the frequency, rate or extent of axon guidance.		mondo.json	regulation of axon growth cone guidance|regulation of axon chemotaxis|regulation of axon pathfinding	http://purl.obolibrary.org/obo/GO_1902667		
GO:1900004	biolink:NamedThing	negative regulation of serine-type endopeptidase activity	Any process that stops, prevents or reduces the frequency, rate or extent of serine-type endopeptidase activity.		mondo.json	down regulation of serine-type endopeptidase activity|negative regulation of blood coagulation factor activity|down regulation of blood coagulation factor activity	http://purl.obolibrary.org/obo/GO_1900004		
MONDO:0001095	biolink:Disease	mediastinum neuroblastoma	A neuroblastoma arising from the mediastinum.	UMLS:C1334673|DOID:10660|EFO:1000367|NCIT:C6628	mondo.json	mediastinum neuroblastoma|neuroblastoma of mediastinum|mediastinal neuroblastoma|neuroblastoma of the mediastinum	http://purl.obolibrary.org/obo/MONDO_0001095	NCIT:C6628|DOID:10660|UMLS:C1334673	
CL:0002559	biolink:Cell	hair follicle cell	An animal cell that is part of a hair follicle.		mondo.json		http://purl.obolibrary.org/obo/CL_0002559		
MONDO:0001094	biolink:Disease	residual stage of open angle glaucoma		DOID:1066|ICD9:365.15|SCTID:66990007|UMLS:C0154944	mondo.json	open-angle glaucoma residual stage|residual stage of open angle glaucoma	http://purl.obolibrary.org/obo/MONDO_0001094	DOID:1066|http://identifiers.org/snomedct/66990007|UMLS:C0154944	
GO:1902668	biolink:NamedThing	negative regulation of axon guidance	Any process that stops, prevents or reduces the frequency, rate or extent of axon guidance.		mondo.json	negative regulation of axon pathfinding|down-regulation of axon pathfinding|downregulation of axon growth cone guidance|down regulation of axon chemotaxis|down-regulation of axon guidance|downregulation of axon chemotaxis|inhibition of axon growth cone guidance|down regulation of axon guidance|downregulation of axon pathfinding|inhibition of axon guidance|down-regulation of axon growth cone guidance|negative regulation of axon growth cone guidance|inhibition of axon chemotaxis|downregulation of axon guidance|down regulation of axon pathfinding|down regulation of axon growth cone guidance|inhibition of axon pathfinding|negative regulation of axon chemotaxis|down-regulation of axon chemotaxis	http://purl.obolibrary.org/obo/GO_1902668		
GO:1900003	biolink:NamedThing	regulation of serine-type endopeptidase activity	Any process that modulates the frequency, rate or extent of serine-type endopeptidase activity.		mondo.json	regulation of blood coagulation factor activity	http://purl.obolibrary.org/obo/GO_1900003		
NCBITaxon:1723728	biolink:OrganismalEntity	unclassified Polyomaviridae		GC_ID:1	mondo.json	unassigned Polyomaviridae	http://purl.obolibrary.org/obo/NCBITaxon_1723728		
MONDO:0001093	biolink:Disease	colonic lymphangioma	A lymphangioma arising from the colon.	NCIT:C5500|UMLS:C1333094|DOID:10657	mondo.json	colonic lymphangioma|lymphangioma of the colon|lymphangioma of colon|colon lymphangioma	http://purl.obolibrary.org/obo/MONDO_0001093	NCIT:C5500|DOID:10657|UMLS:C1333094	
GO:1900005	biolink:NamedThing	positive regulation of serine-type endopeptidase activity	Any process that activates or increases the frequency, rate or extent of serine-type endopeptidase activity.		mondo.json	up regulation of blood coagulation factor activity|positive regulation of blood coagulation factor activity|up regulation of serine-type endopeptidase activity	http://purl.obolibrary.org/obo/GO_1900005		
MONDO:0001092	biolink:Disease	colon leiomyoma	A well-circumscribed benign smooth muscle neoplasm arising from the colon. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	UMLS:C1333092|NCIT:C5492|DOID:10656	mondo.json	leiomyoma of the colon|colon leiomyoma|colonic leiomyoma|leiomyoma of colon	http://purl.obolibrary.org/obo/MONDO_0001092	NCIT:C5492|DOID:10656|UMLS:C1333092	
MONDO:0001099	biolink:Disease	lactocele	Single or multiple, milk-containing nodules in the breast. It is caused by obstruction of the breast ducts during lactation. Needle aspiration of the milk is the treatment of choice.	DOID:10686|NCIT:C3515|SCTID:42385006|ICD9:611.5|GARD:0008401|MESH:C535998	mondo.json	lacteal cyst|galactocele|Galactocoele	http://purl.obolibrary.org/obo/MONDO_0001099	http://identifiers.org/snomedct/42385006|http://identifiers.org/mesh/C535998|DOID:10686|NCIT:C3515	
MONDO:0001098	biolink:Disease	separation anxiety disorder	An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning.	SCTID:11806006|EFO:1001916|DOID:10685|NCIT:C35014|MESH:D001010	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001098	DOID:10685|http://identifiers.org/mesh/D001010|http://identifiers.org/snomedct/11806006|NCIT:C35014	
MONDO:0001097	biolink:Disease	obsolete juvenile glaucoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001097		
MONDO:0001096	biolink:Disease	mediastinum ganglioneuroblastoma	A ganglioneuroblastoma arising from the mediastinum.	UMLS:C1334653|DOID:10661|NCIT:C6627	mondo.json	ganglioneuroblastoma of mediastinum|ganglioneuroblastoma (disease) of mediastinum|mediastinum ganglioneuroblastoma (disease)|ganglioneuroblastoma of the mediastinum|mediastinal ganglioneuroblastoma	http://purl.obolibrary.org/obo/MONDO_0001096	NCIT:C6627|DOID:10661|UMLS:C1334653	
CL:0002551	biolink:Cell	fibroblast of dermis			mondo.json		http://purl.obolibrary.org/obo/CL_0002551		
MONDO:0040699	biolink:Disease	necrotizing scleritis	A severe form of scleritis with subtypes: necrotising zonal granulomatous inflammation, diffuse non-granulomatous chronic inflammation, mixed pattern of acute purulent inflammation mixed with granulomatous inflammation and sarcoidal pattern.	ICD9:379.09|SCTID:95797003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0040699	http://identifiers.org/snomedct/95797003	
CL:0002550	biolink:Cell	fibroblast of the conjunctiva	A fibroblast that is part of the conjuctiva of the eye.		mondo.json		http://purl.obolibrary.org/obo/CL_0002550		
CL:0002553	biolink:Cell	fibroblast of lung	A fibroblast that is part of lung.	BTO:0000764|CALOHA:TS-0575	mondo.json		http://purl.obolibrary.org/obo/CL_0002553		
MONDO:0013068	biolink:Disease	age-related hearing impairment 2		UMLS:C2751814|OMIM:612976|MESH:C567834	mondo.json	age-related hearing impairment 2|ARHI2|presbycusis 2	http://purl.obolibrary.org/obo/MONDO_0013068	http://identifiers.org/mesh/C567834|UMLS:C2751814|https://omim.org/entry/612976	
MONDO:0040698	biolink:Disease	subacute bursitis		SCTID:109298000|UMLS:C1290159	mondo.json	subacute bursitis	http://purl.obolibrary.org/obo/MONDO_0040698	UMLS:C1290159|http://identifiers.org/snomedct/109298000	
CL:0002552	biolink:Cell	fibroblast of gingiva			mondo.json		http://purl.obolibrary.org/obo/CL_0002552		
MONDO:0013069	biolink:Disease	autosomal recessive optic atrophy, OPA7 type		MESH:C567833|DOID:0111437|UMLS:C2751812|OMIM:612989|Orphanet:227976	mondo.json	optic atrophy 7|optic atrophy 7 with or without auditory neuropathy|OPA7	http://purl.obolibrary.org/obo/MONDO_0013069	Orphanet:227976|http://identifiers.org/mesh/C567833|DOID:0111437|UMLS:C2751812|https://omim.org/entry/612989	ordo_clinical_subtype
MONDO:0001091	biolink:Disease	lipoma of colon	A benign adipose tissue neoplasm originating in the colon. It is the second most common benign lesion of the colon after benign adenomatous polyps. Older patients are more likely to be affected, and most lesions are located at the right side of large bowel. Colon lipomas may lead to intestinal obstruction.	UMLS:C0940607|NCIT:C5493|DOID:10655	mondo.json	colon lipoma|lipoma of the colon|lipoma of colon|colonic lipoma	http://purl.obolibrary.org/obo/MONDO_0001091	NCIT:C5493|DOID:10655|UMLS:C0940607	
CL:0002555	biolink:Cell	fibroblast of mammary gland	A fibroblast that is part of the mammary gland.		mondo.json		http://purl.obolibrary.org/obo/CL_0002555		
GO:2001200	biolink:NamedThing	positive regulation of dendritic cell differentiation	Any process that activates or increases the frequency, rate or extent of dendritic cell differentiation.		mondo.json		http://purl.obolibrary.org/obo/GO_2001200		
MONDO:0001090	biolink:Disease	acute anterolateral myocardial infarction	Acute form of anterolateral myocardial infarction.	UMLS:C0155627|DOID:10651|ICD9:410.00|SCTID:70211005|ICD9:410.02|ICD9:410.0|ICD9:410.01	mondo.json	anterolateral myocardial infarction, acute|acute anterolateral myocardial infarction|acute myocardial infarction of anterolateral wall	http://purl.obolibrary.org/obo/MONDO_0001090	UMLS:C0155627|DOID:10651|http://identifiers.org/snomedct/70211005	
CL:0002554	biolink:Cell	fibroblast of lymphatic vessel	A fibroblast of the lymphatic system.		mondo.json		http://purl.obolibrary.org/obo/CL_0002554		
CL:0002557	biolink:Cell	fibroblast of pulmonary artery	A fibroblast of pulmonary artery.		mondo.json		http://purl.obolibrary.org/obo/CL_0002557		
CL:0002556	biolink:Cell	fibroblast of periodontium	A fibroblast of the periodontium.		mondo.json		http://purl.obolibrary.org/obo/CL_0002556		
MONDO:0013062	biolink:Disease	long QT syndrome 12	Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene.	Orphanet:101016|DOID:0110653|UMLS:C2751830|OMIM:612955|MESH:C567842	mondo.json	SNTA1 long QT syndrome|long QT syndrome caused by mutation in SNTA1|long QT syndrome type 12|long QT syndrome 12|LQT12	http://purl.obolibrary.org/obo/MONDO_0013062	DOID:0110653|UMLS:C2751830|https://omim.org/entry/612955|http://identifiers.org/mesh/C567842	
MONDO:0013063	biolink:Disease	ventricular fibrillation, paroxysmal familial, 2	Any ventricular fibrillation in which the cause of the disease is a mutation in the DPP6 gene.	MESH:C567841|OMIM:612956|UMLS:C2751829	mondo.json	VF2|ventricular fibrillation, paroxysmal familial, 2|ventricular fibrillation (disease) caused by mutation in DPP6|DPP6 ventricular fibrillation (disease)|ventricular fibrillation, paroxysmal familial, type 2	http://purl.obolibrary.org/obo/MONDO_0013063	UMLS:C2751829|https://omim.org/entry/612956|http://identifiers.org/mesh/C567841	
MONDO:0013060	biolink:Disease	autosomal recessive Parkinson disease 14	A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.	UMLS:C2751842|OMIM:612953|DOID:0060900|Orphanet:199351|MESH:C567844|GARD:0012568|SCTID:720466001	mondo.json	PLA2G6-related dystonia-parkinsonism|autosomal recessive Parkinson's disease 14|PLA2G6 hereditary late onset Parkinson disease|dystonia-Parkinsonism Adult-onset|Parkinson disease 14, autosomal recessive|dystonia-parkinsonism, Paisan-Ruiz type|hereditary late onset Parkinson disease caused by mutation in PLA2G6|PARK14|autosomal recessive Parkinson disease type 14|adult-onset dystonia - parkinsonism|dystonia-Parkinsonism, adult-onset	http://purl.obolibrary.org/obo/MONDO_0013060	Orphanet:199351|UMLS:C2751842|DOID:0060900|https://omim.org/entry/612953|http://identifiers.org/snomedct/720466001|http://identifiers.org/mesh/C567844	ordo_disease
GO:0098857	biolink:NamedThing	membrane microdomain	A membrane region with a lipid composition that is distinct from that of the membrane regions that surround it.		mondo.json		http://purl.obolibrary.org/obo/GO_0098857		
MONDO:0013061	biolink:Disease	myofibrillar myopathy 6	Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.	DOID:0080097|OMIM:612954|Orphanet:199340|MESH:C567843	mondo.json	BAG3 myofibrillar myopathy (disease)|MFM6|myopathy, myofibrillar, Bag3-related|myopathy, myofibrillar, type 6|myopathy, myofibrillar, 6|myofibrillar myopathy type 6|myofibrillar myopathy 6|muscular dystrophy, Selcen type|myofibrillar myopathy (disease) caused by mutation in BAG3|BAG3-related myofibrillar myopathy	http://purl.obolibrary.org/obo/MONDO_0013061	Orphanet:199340|https://omim.org/entry/612954|DOID:0080097|http://identifiers.org/mesh/C567843	ordo_disease
GO:0098858	biolink:NamedThing	actin-based cell projection	A cell projection supported by an assembly of actin filaments, and which lacks microtubules.		mondo.json		http://purl.obolibrary.org/obo/GO_0098858		
MONDO:0013066	biolink:Disease	46,XY sex reversal 3		DOID:0111772|OMIM:612965	mondo.json	disorder of Sex development, 46,XY, Nr5A1-related|SRXY3|46,XY Sex reversal type 3|46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure|46,XY Sex reversal, partial or complete, Nr5A1-related|46XY sex reversal 3|Sex reversal, XY, with or without adrenal failure|46,XY SEX reversal 3|46,XY sex reversal 3	http://purl.obolibrary.org/obo/MONDO_0013066	DOID:0111772|https://omim.org/entry/612965	
MONDO:0013067	biolink:Disease	cataract 34 multiple types	Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene.	OMIM:612968|UMLS:C2751822|Orphanet:91492|Orphanet:98993|DOID:0110230|MESH:C567835	mondo.json	autosomal recessive congenital cataract 3|cataract 34, multiple types|CATC3|cataract 34, multiple types, with or without microcornea|cataract 34 multiple types with or without microcornea|cataract, autosomal recessive congenital 3|CTRCT34|cataract (disease) caused by mutation in FOXE3|FOXE3 cataract (disease)	http://purl.obolibrary.org/obo/MONDO_0013067	http://identifiers.org/mesh/C567835|DOID:0110230|UMLS:C2751822|https://omim.org/entry/612968	
GO:0098856	biolink:NamedThing	intestinal lipid absorption	Any process in which lipids are taken up from the contents of the intestine.		mondo.json		http://purl.obolibrary.org/obo/GO_0098856		
MONDO:0013064	biolink:Disease	multiple synostoses syndrome 3	Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene.	OMIM:612961|MESH:C567839|UMLS:C2751826	mondo.json	FGF9 multiple synostoses syndrome|SYNS3|multiple synostoses syndrome type 3|multiple synostoses syndrome caused by mutation in FGF9|multiple synostoses syndrome 3	http://purl.obolibrary.org/obo/MONDO_0013064	UMLS:C2751826|https://omim.org/entry/612961|http://identifiers.org/mesh/C567839	
GO:0072201	biolink:NamedThing	negative regulation of mesenchymal cell proliferation	Any process that decreases the frequency, rate or extent of mesenchymal cell proliferation. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets.		mondo.json		http://purl.obolibrary.org/obo/GO_0072201		
MONDO:0013065	biolink:Disease	premature ovarian failure 7	Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene.	MESH:C567838|OMIM:612964|UMLS:C2751825	mondo.json	Pof7|premature ovarian failure 7|premature ovarian failure type 7|NR5A1 primary ovarian failure|adrenocortical insufficiency|adrenal insufficiency, Nr5A1-related|primary ovarian failure caused by mutation in NR5A1	http://purl.obolibrary.org/obo/MONDO_0013065	UMLS:C2751825|https://omim.org/entry/612964|http://identifiers.org/mesh/C567838	
MONDO:0001069	biolink:Disease	obsolete leukodystrophy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001069		
MONDO:0001068	biolink:Disease	osteomalacia	A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003	EFO:1002027|SCTID:4598005|HP:0002749|GARD:0007285|MESH:D010018|ICD9:268.2|DOID:10573|NCIT:C26838	mondo.json	osteomalacia|osteomalacia (disease)	http://purl.obolibrary.org/obo/MONDO_0001068	http://identifiers.org/snomedct/4598005|http://identifiers.org/mesh/D010018|NCIT:C26838|DOID:10573	
MONDO:0001067	biolink:Disease	early yaws	Early yaws includes primary and secondary stages of yaws, endemic tropical treponemal nonvenereal infection: development of initial lesion at inoculation site followed by widespread dissemination of treponemes and generalized secondary granulomatous lesions that may relapse repeatedly.	UMLS:C0275998|ICD9:102.2|ICD9:102.6|DOID:10568|ICD9:102.0|NCIT:C41352|SCTID:23191004	mondo.json	frambesia, initial or primary|initial lesions of yaws|primary frambesia|initial frambesial ulcer|chancre of yaws|bone and joint yaws lesion|bone and joint lesions due to yaws	http://purl.obolibrary.org/obo/MONDO_0001067	UMLS:C0275998|DOID:10568|NCIT:C41352|http://identifiers.org/snomedct/23191004	
MONDO:0001062	biolink:Disease	pyloric antrum cancer	A malignant neoplasm involving the pyloric antrum.	SCTID:187740000|DOID:10547|ICD9:151.2|UMLS:C0153419	mondo.json	pyloric antrum cancer|malignant neoplasm of pyloric antrum|malignant pyloric antrum neoplasm|malignant tumor of pyloric antrum|malignant neoplasm of antrum of stomach|cancer of pyloric antrum	http://purl.obolibrary.org/obo/MONDO_0001062	DOID:10547|UMLS:C0153419|http://identifiers.org/snomedct/187740000	
GO:1900015	biolink:NamedThing	regulation of cytokine production involved in inflammatory response	Any process that modulates the frequency, rate or extent of cytokine production involved in inflammatory response.		mondo.json	regulation of cytokine production involved in acute inflammatory response	http://purl.obolibrary.org/obo/GO_1900015		
GO:1902679	biolink:NamedThing	negative regulation of RNA biosynthetic process	Any process that stops, prevents or reduces the frequency, rate or extent of RNA biosynthetic process.		mondo.json	inhibition of RNA biosynthesis|inhibition of RNA biosynthetic process|down-regulation of RNA biosynthetic process|down-regulation of RNA biosynthesis|down regulation of RNA formation|negative regulation of RNA biosynthesis|inhibition of RNA synthesis|downregulation of RNA synthesis|downregulation of RNA formation|inhibition of RNA formation|negative regulation of RNA anabolism|down-regulation of RNA anabolism|downregulation of RNA biosynthetic process|down regulation of RNA anabolism|downregulation of RNA biosynthesis|negative regulation of RNA synthesis|down-regulation of RNA synthesis|down regulation of RNA biosynthesis|negative regulation of RNA formation|down regulation of RNA synthesis|down regulation of RNA biosynthetic process|down-regulation of RNA formation|downregulation of RNA anabolism|inhibition of RNA anabolism	http://purl.obolibrary.org/obo/GO_1902679		
MONDO:0001061	biolink:Disease	pylorus cancer	A malignant neoplasm involving the pylorus.	UMLS:C0153418|SCTID:187736009|DOID:10544|ICD9:151.1	mondo.json	pylorus cancer|malignant pylorus neoplasm|malignant tumor of pylorus|malignant neoplasm of pylorus|malignant neoplasm of pylorus of stomach|Ca pylorus - stomach|cancer of pylorus|malignant neoplasm of Prepylorus	http://purl.obolibrary.org/obo/MONDO_0001061	UMLS:C0153418|DOID:10544|http://identifiers.org/snomedct/187736009	
GO:1900017	biolink:NamedThing	positive regulation of cytokine production involved in inflammatory response	Any process that activates or increases the frequency, rate or extent of cytokine production involved in inflammatory response.		mondo.json	up regulation of cytokine production involved in inflammatory response|up regulation of cytokine production involved in acute inflammatory response|positive regulation of cytokine production involved in acute inflammatory response	http://purl.obolibrary.org/obo/GO_1900017		
MONDO:0001060	biolink:Disease	microinvasive gastric cancer	An invasive adenocarcinoma confined to the mucosa or mucosa and submucosa of the gastric wall. The regional lymph nodes may or may not be involved. It usually occurs in the lesser curvature. The 5-year survival rate following resection is between 80 percent and 95 percent, and remains high even when lymph node metastases are present.	DOID:10541|NCIT:C27131|UMLS:C0349530|SCTID:276809004	mondo.json	superficial gastric cancer|early gastric cancer|surface gastric cancer|EGC|superficial spreading gastric cancer	http://purl.obolibrary.org/obo/MONDO_0001060	http://identifiers.org/snomedct/276809004|NCIT:C27131|UMLS:C0349530|DOID:10541	
MONDO:0025030	biolink:Disease	digital dermatitis in cattle	Highly contagious infectious dermatitis with lesions near the interdigital spaces usually in cattle. It causes discomfort and often severe lameness (lameness, animal). Lesions can be either erosive or proliferative and wart-like with papillary growths and hypertrophied hairs. dichelobacter nodosus and treponema are the most commonly associated causative agents for this mixed bacterial infection disease.	MESH:D058066	mondo.json	bovine hairy footwarts|dermatitis, bovine digital|Papillomatoses, digital|wart, bovine foot|digital dermatitis, bovine|digital Dermatitides, bovine|Dermatitides, bovine digital|digital Papillomatoses|bovine digital dermatitis|bovine foot wart|bovine digital Dermatitides|digital Dermatitides, papillomatous|Ovine digital dermatitis|Ovine digital Dermatitides|digital dermatitis, papillomatous|digital papillomatosis|Dermatitides, digital|foot Warts, bovine|dermatitis, digital|hairy footwart, bovine|bovine foot Warts|Warts, bovine foot|bovine hairy footwart|footwart, bovine hairy|papillomatosis, digital|digital Dermatitides|footwarts, bovine hairy|hairy footwarts, bovine|papillomatous digital dermatitis|digital Dermatitides, Ovine|digital dermatitis, Ovine|foot wart, bovine|papillomatous digital Dermatitides	http://purl.obolibrary.org/obo/MONDO_0025030	http://identifiers.org/mesh/D058066	
GO:1900016	biolink:NamedThing	negative regulation of cytokine production involved in inflammatory response	Any process that stops, prevents or reduces the frequency, rate or extent of cytokine production involved in inflammatory response.		mondo.json	negative regulation of cytokine production involved in acute inflammatory response|down regulation of cytokine production involved in inflammatory response|down regulation of cytokine production involved in acute inflammatory response	http://purl.obolibrary.org/obo/GO_1900016		
MONDO:0001066	biolink:Disease	late yaws	Late yaws is the tertiary, non-contagious stage of yaws, endemic tropical treponemal nonvenereal infection. Late yaws is characterized by destructive and deforming lesions of the skin, bones, and joints.	DOID:10567|UMLS:C0276007|ICD9:102.1|SCTID:186968004|NCIT:C41354|UMLS:C1517744|ICD9:102.4	mondo.json	multiple papillomata due to yaws and wet crab yaws|yaws gummata and ulcers|gummata of yaws|nodular late yaws|ulcers of yaws|gummata and ulcers due to yaws|gummatous frambeside	http://purl.obolibrary.org/obo/MONDO_0001066	UMLS:C0276007|http://identifiers.org/snomedct/186968004|DOID:10567|UMLS:C1517744|NCIT:C41354	
MONDO:0027696	biolink:Disease	voriconazole toxicity		Orphanet:240921	mondo.json		http://purl.obolibrary.org/obo/MONDO_0027696	Orphanet:240921	ordo_disorder
MONDO:0001065	biolink:Disease	supine hypotensive syndrome	A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus.	HP:0008071|SCTID:88887003|DOID:10556|ICD9:669.20	mondo.json	maternal hypotension syndrome|postpartum maternal hypotension syndrome|antepartum maternal hypotension syndrome	http://purl.obolibrary.org/obo/MONDO_0001065	http://identifiers.org/snomedct/88887003|DOID:10556	
MONDO:0001064	biolink:Disease	acute eustachian salpingitis	Acute form of otosalpingitis.	UMLS:C0155429|SCTID:194268005|DOID:10550|ICD9:381.51	mondo.json	acute eustachian tube salpingitis|acute otosalpingitis|otosalpingitis, acute	http://purl.obolibrary.org/obo/MONDO_0001064	UMLS:C0155429|DOID:10550|http://identifiers.org/snomedct/194268005	
MONDO:0027694	biolink:Disease	amyotrophic lateral sclerosis type 23		UMLS:CN778765|OMIM:617839|DOID:0080225	mondo.json	ALS23|amyotrophic lateral sclerosis 23	http://purl.obolibrary.org/obo/MONDO_0027694	https://omim.org/entry/617839|UMLS:CN778765|DOID:0080225	
MONDO:0001063	biolink:Disease	cardia cancer	A malignant neoplasm involving the cardia of stomach.	DOID:10548|ICD9:151.0|SCTID:187732006|UMLS:C0153417	mondo.json	cardia of stomach cancer|malignant neoplasm of cardia of stomach|malignant cardia of stomach neoplasm|Ca cardia - stomach|cancer of cardia of stomach	http://purl.obolibrary.org/obo/MONDO_0001063	http://identifiers.org/snomedct/187732006|UMLS:C0153417|DOID:10548	
MONDO:0013059	biolink:Disease	Aicardi-Goutieres syndrome 5	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene.	NCIT:C168564|OMIM:612952|GARD:0010151|MESH:C535608	mondo.json	AGS5|Aicardi-Goutieres syndrome caused by mutation in SAMHD1|Aicardi-Goutieres syndrome type 5|Aicardi-Goutieres syndrome 5|SAMHD1-related Aicardi-Goutieres syndrome|SAMHD1 Aicardi-Goutieres syndrome	http://purl.obolibrary.org/obo/MONDO_0013059	https://omim.org/entry/612952|http://identifiers.org/mesh/C535608|NCIT:C168564	
GO:0060255	biolink:NamedThing	regulation of macromolecule metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass.		mondo.json		http://purl.obolibrary.org/obo/GO_0060255		
MONDO:0013057	biolink:Disease	psoriasis 12, susceptibility to		DOID:0111291|OMIM:612950	mondo.json	psoriasis susceptibility 12|psoriasis 12, susceptibility to|PSORS12	http://purl.obolibrary.org/obo/MONDO_0013057	DOID:0111291|https://omim.org/entry/612950	
GO:1902680	biolink:NamedThing	positive regulation of RNA biosynthetic process	Any process that activates or increases the frequency, rate or extent of RNA biosynthetic process.		mondo.json	up regulation of RNA synthesis|positive regulation of RNA biosynthesis|up-regulation of RNA formation|upregulation of RNA anabolism|positive regulation of RNA synthesis|up regulation of RNA biosynthesis|activation of RNA synthesis|up regulation of RNA biosynthetic process|up regulation of RNA formation|up-regulation of RNA biosynthesis|positive regulation of RNA formation|up-regulation of RNA biosynthetic process|activation of RNA formation|upregulation of RNA synthesis|activation of RNA biosynthetic process|activation of RNA biosynthesis|upregulation of RNA formation|up-regulation of RNA anabolism|upregulation of RNA biosynthesis|up regulation of RNA anabolism|upregulation of RNA biosynthetic process|up-regulation of RNA synthesis|positive regulation of RNA anabolism|activation of RNA anabolism	http://purl.obolibrary.org/obo/GO_1902680		
MONDO:0013058	biolink:Disease	cystic leukoencephalopathy without megalencephaly	Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.	MESH:C567845|OMIM:612951|SCTID:720825005|UMLS:C2751843|GARD:0013199|Orphanet:85136	mondo.json	CLWM|leukoencephalopathy, cystic, without megalencephaly|RNAse T2-deficient leukoencephalopathy	http://purl.obolibrary.org/obo/MONDO_0013058	Orphanet:85136|http://identifiers.org/mesh/C567845|http://identifiers.org/snomedct/720825005|UMLS:C2751843|https://omim.org/entry/612951	ordo_disease
CL:0002521	biolink:Cell	subcutaneous fat cell	A fat cell that is part of subcutaneous adipose tissue.		mondo.json	subcutaneous adipocyte	http://purl.obolibrary.org/obo/CL_0002521		
GO:2001212	biolink:NamedThing	regulation of vasculogenesis	Any process that modulates the frequency, rate or extent of vasculogenesis.		mondo.json	regulation of vascular morphogenesis	http://purl.obolibrary.org/obo/GO_2001212		
GO:0060259	biolink:NamedThing	regulation of feeding behavior	Any process that modulates the rate, frequency or extent of the behavior associated with the intake of food.		mondo.json	regulation of feeding behaviour	http://purl.obolibrary.org/obo/GO_0060259		
GO:0035249	biolink:NamedThing	synaptic transmission, glutamatergic	The vesicular release of glutamate from a presynapse, across a chemical synapse, the subsequent activation of glutamate receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.		mondo.json	glutamatergic synaptic transmission	http://purl.obolibrary.org/obo/GO_0035249		
GO:2001213	biolink:NamedThing	negative regulation of vasculogenesis	Any process that stops, prevents or reduces the frequency, rate or extent of vasculogenesis.		mondo.json	negative regulation of vascular morphogenesis	http://purl.obolibrary.org/obo/GO_2001213		
GO:2001214	biolink:NamedThing	positive regulation of vasculogenesis	Any process that activates or increases the frequency, rate or extent of vasculogenesis.		mondo.json	positive regulation of vascular morphogenesis	http://purl.obolibrary.org/obo/GO_2001214		
MONDO:0013051	biolink:Disease	autosomal recessive cutis laxa type 2B	Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.	UMLS:C2751987|Orphanet:357064|GARD:0001641|OMIM:612940|DOID:0070137|MESH:C567855	mondo.json	cutis laxa, autosomal recessive, type 2B|autosomal recessive cutis laxa type IIB|PYCR1 autosomal recessive cutis laxa type 2|cutis laxa with progeroid features|cutis laxa, autosomal recessive, type IIB|autosomal recessive cutis laxa type 2, progeroid type|autosomal recessive cutis laxa type 2 caused by mutation in PYCR1|ARCL2, progeroid type|cutis laxa, autosomal recessive type 2B|autosomal recessive cutis laxa type 2B|ARCL2B	http://purl.obolibrary.org/obo/MONDO_0013051	Orphanet:357064|http://identifiers.org/mesh/C567855|UMLS:C2751987|DOID:0070137|https://omim.org/entry/612940	ordo_disease|gard_rare
MONDO:0013052	biolink:Disease	retinitis pigmentosa 42	Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene.	MESH:C567854|OMIM:612943|UMLS:C2751986|DOID:0110386|ICD10CM:H35.5	mondo.json	KLHL7 retinitis pigmentosa|retinitis pigmentosa caused by mutation in KLHL7|RP42|retinitis pigmentosa 42|retinitis pigmentosa type 42	http://purl.obolibrary.org/obo/MONDO_0013052	http://identifiers.org/mesh/C567854|DOID:0110386|UMLS:C2751986|https://omim.org/entry/612943	
MONDO:0013050	biolink:Disease	lethal polymalformative syndrome, Boissel type		Orphanet:210144|OMIM:612938|MESH:C567856	mondo.json	GDFD|growth retardation, developmental delay, facial dysmorphism|growth retardation, developmental delay, and facial dysmorphism	http://purl.obolibrary.org/obo/MONDO_0013050	Orphanet:210144|https://omim.org/entry/612938|http://identifiers.org/mesh/C567856	ordo_malformation_syndrome
MONDO:0013055	biolink:Disease	Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features		GARD:0010683|OMIM:612948|UMLS:C2751864|MESH:C548086	mondo.json	Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features|Stargardt macular degeneration absent or hypoplastic corpus callosum intellectual disability and dysmorphic features|Stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic features|Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features	http://purl.obolibrary.org/obo/MONDO_0013055	http://identifiers.org/mesh/C548086|UMLS:C2751864|https://omim.org/entry/612948	gard_rare
MONDO:0013056	biolink:Disease	developmental and epileptic encephalopathy, 39	A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.	OMIM:612949|Orphanet:353217|UMLS:C4512050|UMLS:C2751855|DOID:0080349|SCTID:726702005|MESH:C567847	mondo.json	DEE39|EIEE39|mitochondrial aspartate-glutamate carrier 1 deficiency|developmental and epileptic encephalopathy 39|aspartate-glutamate carrier 1 deficiency|AGC1 deficiency|SLC25A12 early infantile epileptic encephalopathy|hypomyelination, global cerebral|epileptic encephalopathy, early infantile, 39|epileptic encephalopathy with global cerebral demyelination|early infantile epileptic encephalopathy caused by mutation in SLC25A12	http://purl.obolibrary.org/obo/MONDO_0013056	DOID:0080349|http://identifiers.org/mesh/C567847|http://identifiers.org/snomedct/726702005|UMLS:C4512050|UMLS:C2751855|Orphanet:353217|https://omim.org/entry/612949	ordo_disease
MONDO:0013053	biolink:Disease	microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type	Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.	SCTID:719395001|MESH:C567850|Orphanet:217026|OMIM:612946|UMLS:C2751878	mondo.json	microcephaly-faciocardioskeletal syndrome|Hadziselimovic syndrome	http://purl.obolibrary.org/obo/MONDO_0013053	http://identifiers.org/mesh/C567850|http://identifiers.org/snomedct/719395001|UMLS:C2751878|Orphanet:217026|https://omim.org/entry/612946	ordo_malformation_syndrome
MONDO:0013054	biolink:Disease	microcephaly, growth retardation, cataract, hearing loss, and unusual appearance		UMLS:C2751870|OMIM:612947|MESH:C567849	mondo.json	microcephaly, growth retardation, cataract, hearing loss, and unusual appearance	http://purl.obolibrary.org/obo/MONDO_0013054	http://identifiers.org/mesh/C567849|UMLS:C2751870|https://omim.org/entry/612947	
MONDO:0001079	biolink:Disease	pancreatic steatorrhea		SCTID:54576000|DOID:10610|ICD10CM:K90.3|ICD9:579.4|UMLS:C0152166	mondo.json	pancreatic steatorrhoea	http://purl.obolibrary.org/obo/MONDO_0001079	http://identifiers.org/snomedct/54576000|http://purl.bioontology.org/ontology/ICD10CM/K90.3|UMLS:C0152166|DOID:10610	
MONDO:0025028	biolink:Disease	vesicular stomatitis	A viral disease caused by at least two distinct species (serotypes) in the vesiculovirus genus: vesicular stomatitis indiana virus and vesicular stomatitis new jersey virus. It is characterized by vesicular eruptions on the oral mucosa in cattle, horses, pigs, and other animals. In humans, vesicular stomatitis causes an acute influenza-like illness.	SCTID:36921006|MESH:D054243|UMLS:C0266999	mondo.json	vesicular Stomatitides|Stomatitides, vesicular|stomatitis, vesicular	http://purl.obolibrary.org/obo/MONDO_0025028	http://identifiers.org/mesh/D054243|UMLS:C0266999|http://identifiers.org/snomedct/36921006	
MONDO:0027687	biolink:Disease	raltegravir toxicity		Orphanet:240905	mondo.json		http://purl.obolibrary.org/obo/MONDO_0027687	Orphanet:240905	ordo_disorder
MONDO:0001078	biolink:Disease	tropical sprue	A rare disorder of the digestive tract characterized by malabsorption and anemia. It is likely caused by infection leading to small intestinal mucosal injury, bacterial overgrowth and inflammatory changes. It is most prevalent in residents and visitors to tropical and subtropical climates. Clinical signs include anorexia, abdominal bloating, diarrhea and weight loss. Clinical course may progress to deficiencies of folate, vitamin B12 and iron. Prognosis is favorable with nutrient replacement and antibiotic therapy, however relapses are common.	ICD10CM:K90.1|GARD:0007824|ICD9:579.1|UMLS:C0038054|SCTID:47384003|DOID:10607|NCIT:C45428|MESH:D013182	mondo.json	idiopathic tropical malabsorption syndrome|sprue - tropical|tropical enteropathy|tropical steatorrhea|post-infective tropical malabsorption	http://purl.obolibrary.org/obo/MONDO_0001078	http://identifiers.org/mesh/D013182|NCIT:C45428|http://purl.bioontology.org/ontology/ICD10CM/K90.1|DOID:10607|http://identifiers.org/snomedct/47384003|UMLS:C0038054	gard_rare
MONDO:0001073	biolink:Disease	idiopathic progressive polyneuropathy		SCTID:33209009|ICD9:356.4|UMLS:C0154756|DOID:10593	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001073	UMLS:C0154756|DOID:10593|http://identifiers.org/snomedct/33209009	
CL:0002537	biolink:Cell	amnion mesenchymal stem cell	A mesenchymal stem cell of the amnion membrane.		mondo.json	amniotic membrane stem cell	http://purl.obolibrary.org/obo/CL_0002537		
GO:2001226	biolink:NamedThing	negative regulation of chloride transport	Any process that stops, prevents or reduces the frequency, rate or extent of chloride transport.		mondo.json		http://purl.obolibrary.org/obo/GO_2001226		
MONDO:0001072	biolink:Disease	mild pre-eclampsia	A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation.	ICD9:642.44|ICD9:642.40|ICD9:642.43|ICD9:642.42|ICD9:642.41|SCTID:41114007|DOID:10590	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001072	http://identifiers.org/snomedct/41114007|DOID:10590	
CL:0002536	biolink:Cell	epithelial cell of amnion	An epithelial cell that is part of the amnion.		mondo.json	amniotic epithelial cell	http://purl.obolibrary.org/obo/CL_0002536		
MONDO:0001071	biolink:Disease	intellectual disability	A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group.	Orphanet:319658|ICD10CM:F70-F79|EFO:0003847|MESH:D008607|SCTID:1855002|SCTID:91138005|ICD9:319|GARD:0011963|DOID:1059|NCIT:C97250	mondo.json	intellectual disability|mental retardation|intellectual disabilities	http://purl.obolibrary.org/obo/MONDO_0001071	http://identifiers.org/mesh/D008607|DOID:1059|NCIT:C97250|Orphanet:319658|http://identifiers.org/snomedct/91138005|http://purl.bioontology.org/ontology/ICD10CM/F70-F79	
CL:0002539	biolink:Cell	aortic smooth muscle cell	A smooth muscle cell of the aorta.	BTO:0004577	mondo.json		http://purl.obolibrary.org/obo/CL_0002539		
CL:0002538	biolink:Cell	intrahepatic cholangiocyte	An epithelial cell of the intrahepatic portion of the bile duct. These cells are flattened or cuboidal in shape, and have a small nuclear-to-cytoplasmic ratio relative to large/extrahepatic cholangiocytes.		mondo.json	small bile duct cholangiocyte	http://purl.obolibrary.org/obo/CL_0002538		
MONDO:0001070	biolink:Disease	obsolete adrenoleukodystrophy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001070		
MONDO:0001077	biolink:Disease	obsolete short bowel syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001077		
MONDO:0001076	biolink:Disease	glucose intolerance	The inability to regulate blood glucose levels resulting in hyperglycemia.	DOID:10603|NCIT:C34646|ICD9:271.3|UMLS:C0271650|SCTID:267426009|MESH:D018149	mondo.json	glucose: intolerance|glucose: malabsorption|malabsorption of glucose|glucose: [intolerance] or [malabsorption]	http://purl.obolibrary.org/obo/MONDO_0001076	NCIT:C34646|http://identifiers.org/mesh/D018149|http://identifiers.org/snomedct/267426009|DOID:10603|UMLS:C0271650	
MONDO:0001075	biolink:Disease	steatorrhea	A finding of an excessive amount of fat in the stool.	DOID:10602|MESH:D045602|NCIT:C86917|SCTID:27868004|HP:0002570	mondo.json	fatty stool (finding)|fatty stool|steatorrhea|steatorrhea (disease)	http://purl.obolibrary.org/obo/MONDO_0001075	http://identifiers.org/snomedct/27868004|NCIT:C86917|http://identifiers.org/mesh/D045602	
MONDO:0001074	biolink:Disease	chronic tic disorder	A neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause.	ICD9:307.22|DOID:10600|ICD10CM:F95.1|NCIT:C116768	mondo.json	chronic motor or vocal tic disorder|tic disorder, chronic	http://purl.obolibrary.org/obo/MONDO_0001074	NCIT:C116768|http://purl.bioontology.org/ontology/ICD10CM/F95.1|DOID:10600	
MONDO:0013048	biolink:Disease	hereditary spastic paraplegia 50	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene.	MESH:C567858|DOID:0110802|OMIM:612936|UMLS:C2752008	mondo.json	hereditary spastic paraplegia type 50|cerebral palsy, spastic quadriplegic, 3, formerly|SPG50|AP4M1 hereditary spastic paraplegia|cerebral palsy, spastic quadriplegic, 3|spastic paraplegia 50, autosomal recessive|autosomal recessive spastic paraplegia 50|hereditary spastic paraplegia caused by mutation in AP4M1|spastic quadriplegic cerebral palsy 3	http://purl.obolibrary.org/obo/MONDO_0013048	https://omim.org/entry/612936|http://identifiers.org/mesh/C567858|UMLS:C2752008|DOID:0110802	
MONDO:0013049	biolink:Disease	DPM3-congenital disorder of glycosylation	DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.	MESH:C567857|Orphanet:263494|UMLS:C2752007|GARD:0012395|SCTID:725044000|OMIM:612937	mondo.json	DPM3-CDG (CDG-Io)|DG1O|CDG syndrome type Io|congenital disorder of glycosylation type Io|DPM3-congenital disorder of glycosylation|CDG Io|congenital disorder of glycosylation type 1o|CDG-Io|carbohydrate deficient glycoprotein syndrome type Io|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15|CDGIo|Cdg1(Dpm3)|DPM3-CDG|CDG1O|congenital disorder of glycosylation, type Io	http://purl.obolibrary.org/obo/MONDO_0013049	https://omim.org/entry/612937|http://identifiers.org/mesh/C567857|UMLS:C2752007|http://identifiers.org/snomedct/725044000|Orphanet:263494	ordo_disease
MONDO:0013046	biolink:Disease	glycogen storage disease due to muscle beta-enolase deficiency	Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.	OMIM:612932|UMLS:C2752027|GARD:0002125|MESH:C567861|Orphanet:99849	mondo.json	GSD13|muscular enolase deficiency|GSD due to muscle beta-enolase deficiency|muscle enolase deficiency|GSD 13|glycogenosis type 13|glycogen storage disease 13|enolase 3 deficiency|enolase-Beta deficiency|GSDXIII|glycogen storage disease type 13|glycogen storage disease due to muscle beta-enolase deficiency|glycogenosis due to muscle beta-enolase deficiency|glycogen storage disease XIII	http://purl.obolibrary.org/obo/MONDO_0013046	https://omim.org/entry/612932|http://identifiers.org/mesh/C567861|Orphanet:99849|UMLS:C2752027	ordo_disease
MONDO:0013047	biolink:Disease	glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern.	GARD:0003160|OMIM:612933|ICD9:271.8|HGNC:6535|Orphanet:284426|SCTID:237982007|MESH:C538133	mondo.json	glycogen storage disease XI|lactate dehydrogenase deficiency type A|glycogenosis due to lactate dehydrogenase M-subunit deficiency|lactate dehydrogenase A deficiency|LDHA glycogen storage disease|glycogen storage disease caused by mutation in LDHA|GSD11|GSD 11|glycogenosis type 11|GSD due to lactate dehydrogenase M-subunit deficiency|glycogen storage disease type 11|LDH-M subunit deficiency|GSD type 11|GSD XI	http://purl.obolibrary.org/obo/MONDO_0013047	http://identifiers.org/mesh/C538133|https://omim.org/entry/612933|http://identifiers.org/snomedct/237982007|Orphanet:284426	gard_rare|ordo_clinical_subtype
GO:0035235	biolink:NamedThing	ionotropic glutamate receptor signaling pathway	The series of molecular signals initiated by glutamate binding to a glutamate receptor on the surface of the target cell, followed by the movement of ions through a channel in the receptor complex, and ending with the regulation of a downstream cellular process, e.g. transcription.		mondo.json	ionotropic glutamate receptor signalling pathway	http://purl.obolibrary.org/obo/GO_0035235		
GO:2001222	biolink:NamedThing	regulation of neuron migration	Any process that modulates the frequency, rate or extent of neuron migration.		mondo.json	regulation of neuronal migration|regulation of neuron guidance|regulation of neuron chemotaxis	http://purl.obolibrary.org/obo/GO_2001222		
GO:2001223	biolink:NamedThing	negative regulation of neuron migration	Any process that stops, prevents or reduces the frequency, rate or extent of neuron migration.		mondo.json	negative regulation of neuron chemotaxis|negative regulation of neuron guidance|negative regulation of neuronal migration	http://purl.obolibrary.org/obo/GO_2001223		
CL:0002535	biolink:Cell	epithelial cell of cervix	An epithelial cell of the cervix.		mondo.json	cervical canal of uterus epithelial cell|cervix of uterus epithelial cell|cervical canal epithelial cell|cervix epithelial cell|epithelial cell of cervical canal of uterus|neck of uterus epithelial cell|epithelial cell of cervix of uterus|uterine cervix epithelial cell|epithelial cell of cervical canal|epithelial cell of neck of uterus|epithelial cell of uterine cervix	http://purl.obolibrary.org/obo/CL_0002535		
GO:2001224	biolink:NamedThing	positive regulation of neuron migration	Any process that activates or increases the frequency, rate or extent of neuron migration.		mondo.json	positive regulation of neuron guidance|positive regulation of neuron chemotaxis|positive regulation of neuronal migration	http://purl.obolibrary.org/obo/GO_2001224		
GO:0060249	biolink:NamedThing	anatomical structure homeostasis	A homeostatic process involved in the maintenance of an internal steady state within a defined anatomical structure of an organism, including control of cellular proliferation and death and control of metabolic function. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome.		mondo.json	anatomical structure maintenance	http://purl.obolibrary.org/obo/GO_0060249		
GO:0035239	biolink:NamedThing	tube morphogenesis	The process in which the anatomical structures of a tube are generated and organized. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system.		mondo.json		http://purl.obolibrary.org/obo/GO_0035239		
GO:2001225	biolink:NamedThing	regulation of chloride transport	Any process that modulates the frequency, rate or extent of chloride transport.		mondo.json		http://purl.obolibrary.org/obo/GO_2001225		
MONDO:0013040	biolink:Disease	atypical hemolytic-uremic syndrome with MCP/CD46 anomaly		Orphanet:93576|OMIM:612922	mondo.json	hemolytic uremic syndrome, atypical, susceptibility to, type 2|D-HUS with MCP/CD46 anomaly|AHUS2|AHUS, susceptibility to, 2|aHUS2|hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly|susceptibility to atypical hemolytic uremic syndrome 2|hemolytic uremic syndrome, atypical, susceptibility to, 2|aHUS with MCP/CD46 anomaly|atypical HUS with MCP/CD46 anomaly	http://purl.obolibrary.org/obo/MONDO_0013040	Orphanet:93576|https://omim.org/entry/612922	predisposition|ordo_etiological_subtype
MONDO:0013041	biolink:Disease	atypical hemolytic-uremic syndrome with I factor anomaly		Orphanet:93580|OMIM:612923	mondo.json	D-HUS with I factor anomaly|hemolytic uremic syndrome, atypical, susceptibility to, type 3|hemolytic-uremic syndrome without diarrhea with I factor anomaly|AHUS3|atypical HUS with I factor anomaly|aHUS3|aHUS with I factor anomaly|aHUS, susceptibility to, 3|susceptibility to atypical hemolytic uremic syndrome 3|hemolytic uremic syndrome, atypical, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0013041	Orphanet:93580|https://omim.org/entry/612923	predisposition|ordo_etiological_subtype
MONDO:0013044	biolink:Disease	atypical hemolytic-uremic syndrome with thrombomodulin anomaly		OMIM:612926|Orphanet:217023	mondo.json	hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly|AHUS6|hemolytic uremic syndrome, atypical, susceptibility to, type 6|atypical HUS with thrombomodulin anomaly|aHUS with thrombomodulin anomaly|Ahus, susceptibility to, 6|susceptibility to atypical hemolytic uremic syndrome 6|hemolytic uremic syndrome, atypical, susceptibility to, 6|D-HUS with thrombomodulin anomaly	http://purl.obolibrary.org/obo/MONDO_0013044	Orphanet:217023|https://omim.org/entry/612926	predisposition|ordo_etiological_subtype
MONDO:0013045	biolink:Disease	mycobacterium tuberculosis, susceptibility to, 3		OMIM:612929	mondo.json	Mycobacterium tuberculosis, susceptibility to, type 3|mycobacterium tuberculosis, susceptibility to, 3|MTBS3	http://purl.obolibrary.org/obo/MONDO_0013045	https://omim.org/entry/612929	predisposition
MONDO:0013042	biolink:Disease	atypical hemolytic-uremic syndrome with B factor anomaly		Orphanet:93578|OMIM:612924	mondo.json	AHUS4|D-HUS with B factor anomaly|hemolytic uremic syndrome, atypical, susceptibility to, type 4|hemolytic-uremic syndrome without diarrhea with B factor anomaly|aHUS, susceptibility to, 4|aHUS4|atypical HUS with B factor anomaly|susceptibility to atypical hemolytic uremic syndrome 4|aHUS with B factor anomaly|hemolytic uremic syndrome, atypical, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0013042	Orphanet:93578|https://omim.org/entry/612924	predisposition|ordo_etiological_subtype
MONDO:0013043	biolink:Disease	atypical hemolytic-uremic syndrome with C3 anomaly		Orphanet:93575|OMIM:612925	mondo.json	hemolytic-uremic syndrome without diarrhea with C3 anomaly|hemolytic uremic syndrome, atypical, susceptibility to, type 5|aHUS with C3 anomaly|atypical HUS with C3 anomaly|AHUS5|Ahus, susceptibility to, 5|susceptibility to atypical hemolytic uremic syndrome 5|hemolytic uremic syndrome, atypical, susceptibility to, 5|D-HUS with C3 anomaly	http://purl.obolibrary.org/obo/MONDO_0013043	Orphanet:93575|https://omim.org/entry/612925	predisposition|ordo_etiological_subtype
UBERON:0036291	biolink:AnatomicalEntity	myocardium of anterior wall of right ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036291		
ENVO:01000755	biolink:NamedThing	aeroform	A part of an astronomical body which is primarily composed of a continuous volume of gaseous or aerosolised material held in shape by one or more environmental processes.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000755		
UBERON:0036290	biolink:AnatomicalEntity	myocardium of anterior wall of left ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036290		
UBERON:0036295	biolink:AnatomicalEntity	renal pelvis/ureter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036295		
UBERON:0036294	biolink:AnatomicalEntity	mucosa of lip			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036294		
ENVO:01000752	biolink:NamedThing	area of barren land	An area of a planet's surface which is primarily composed of bedrock, desert pavement, scarp rock, talus, material exposed by slides, volcanic material, glacial debris, sand, material exposed during strip mining, gravel, and other accumulations of earthen material in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000752		
GO:0047291	biolink:NamedThing	lactosylceramide alpha-2,3-sialyltransferase activity	Catalysis of the reaction: cytolipin-H + CMP-N-acetylneuraminate = alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-D-glucosylceramide + CMP. Alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-D-glucosylceramide is also known as GM3.		mondo.json	GM3 synthetase activity|CMP-N-acetylneuraminate:lactosylceramide alpha-2,3-N-acetylneuraminyltransferase activity|CMP-sialic acid:lactosylceramide-sialyltransferase activity|cytidine monophosphoacetylneuraminate-lactosylceramide sialyltransferase|ganglioside GM3 synthase activity|cytidine monophosphoacetylneuraminate-lactosylceramide alpha2,3- sialyltransferase activity|ganglioside GM3 synthetase activity|CMP-acetylneuraminic acid:lactosylceramide sialyltransferase activity|SAT 1|CMP-acetylneuraminate-lactosylceramide-sialyltransferase|GM3 synthase activity	http://purl.obolibrary.org/obo/GO_0047291		
GO:0035229	biolink:NamedThing	positive regulation of glutamate-cysteine ligase activity	Any process that activates or increases the activity of glutamate-cysteine ligase, typically by lowering its sensitivity to inhibition by glutathione and by increasing its affinity for glutamate.		mondo.json	upregulation of glutamate-cysteine ligase activity|up regulation of glutamate-cysteine ligase activity|stimulation of glutamate-cysteine ligase activity|up-regulation of glutamate-cysteine ligase activity|activation of glutamate-cysteine ligase activity	http://purl.obolibrary.org/obo/GO_0035229		
CL:0002504	biolink:Cell	enteric smooth muscle cell	A smooth muscle cell of the intestine.		mondo.json	intestinal smooth muscle cell	http://purl.obolibrary.org/obo/CL_0002504		
MONDO:0025095	biolink:Disease	malaria, avian	Any of a group of infections of fowl caused by protozoa of the genera plasmodium, Leucocytozoon, and Haemoproteus. The life cycles of these parasites and the disease produced bears strong resemblance to those observed in human malaria.	UMLS:C0024533|MESH:D008289	mondo.json	Malarias, Avian|Avian malaria|Avian Malarias	http://purl.obolibrary.org/obo/MONDO_0025095	http://identifiers.org/mesh/D008289|UMLS:C0024533	
CL:0002503	biolink:Cell	adventitial cell	A cell of the adventitial layer of ductal structures such as the uterer, defent duct, biliary duct, etc	BTO:0002441|FMA:84639	mondo.json		http://purl.obolibrary.org/obo/CL_0002503		
MONDO:0025096	biolink:Disease	malignant catarrh	A herpesvirus infection of cattle characterized by catarrhal inflammation of the upper respiratory and alimentary epithelia, keratoconjunctivitis, encephalitis and lymph node enlargement. Syn: bovine epitheliosis, snotsiekte.	SCTID:24043009|MESH:D008304|UMLS:C0276241	mondo.json	fever, malignant catarrhal|catarrhal fever, malignant|catarrh, malignant|malignant catarrhal fever|malignant catarrhal fevers|malignant Catarrhs|Catarrhs, malignant|fevers, malignant catarrhal|catarrhal fevers, malignant	http://purl.obolibrary.org/obo/MONDO_0025096	http://identifiers.org/snomedct/24043009|http://identifiers.org/mesh/D008304|UMLS:C0276241	
GO:0060271	biolink:NamedThing	cilium assembly	The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.		mondo.json	cilium morphogenesis|cilium organization|cilium biogenesis|microtubule-based flagellum assembly|cilium formation|ciliogenesis	http://purl.obolibrary.org/obo/GO_0060271		
CL:0002507	biolink:Cell	langerin-positive lymph node dendritic cell	A dermal dendritic cell isolated from skin draining lymph nodes that is langerin-positive, MHC-II-positive, and CD4-negative and CD8a-negative.		mondo.json		http://purl.obolibrary.org/obo/CL_0002507		
GO:0035227	biolink:NamedThing	regulation of glutamate-cysteine ligase activity	Any process that modulates the activity of glutamate-cysteine ligase.		mondo.json		http://purl.obolibrary.org/obo/GO_0035227		
GO:0035228	biolink:NamedThing	negative regulation of glutamate-cysteine ligase activity	Any process that stops or reduces the activity of the enzyme glutamate-cysteine ligase.		mondo.json	inhibition of glutamate-cysteine ligase activity|down-regulation of glutamate-cysteine ligase activity|downregulation of glutamate-cysteine ligase activity|down regulation of glutamate-cysteine ligase activity	http://purl.obolibrary.org/obo/GO_0035228		
MONDO:0037002	biolink:Disease	benign phyllodes tumor	A benign, circumscribed fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It is characterized by the presence of epithelial structures which are arranged in clefts and by a hypercellular mesenchymal stroma which is organized in leaf-like structures. There is no evidence of cellular atypia or sarcomatous features.	NCIT:C4274|ICDO:9020/0	mondo.json	benign phyllodes tumor|phyllodes tumor, benign|benign phyllodes neoplasm|benign cystosarcoma phyllodes	http://purl.obolibrary.org/obo/MONDO_0037002	NCIT:C4274	
MONDO:0037003	biolink:Disease	malignant phyllodes tumor	A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases.	NCIT:C4275|ICDO:9020/3	mondo.json	phyllodes tumor, malignant|malignant phyllodes neoplasm|malignant phyllodes tumor|malignant cystosarcoma phyllodes	http://purl.obolibrary.org/obo/MONDO_0037003	NCIT:C4275	
ENVO:01000743	biolink:NamedThing	land consumption process	A process in which natural ecosystems present over an expanse of land are removed and replaced with anthropogenic ecosystems.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000743		
GO:1900048	biolink:NamedThing	positive regulation of hemostasis	Any process that activates or increases the frequency, rate or extent of hemostasis.		mondo.json	up-regulation of hemostasis|activation of hemostasis|upregulation of hemostasis|up regulation of hemostasis	http://purl.obolibrary.org/obo/GO_1900048		
GO:1900047	biolink:NamedThing	negative regulation of hemostasis	Any process that stops, prevents or reduces the frequency, rate or extent of hemostasis.		mondo.json	downregulation of hemostasis|down regulation of hemostasis|inhibition of hemostasis|down-regulation of hemostasis	http://purl.obolibrary.org/obo/GO_1900047		
MONDO:0025086	biolink:Disease	hip dysplasia, canine	A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age.	MESH:D006619|UMLS:C0019556	mondo.json	dysplasia, canine hip|canine hip dysplasia	http://purl.obolibrary.org/obo/MONDO_0025086	http://identifiers.org/mesh/D006619|UMLS:C0019556	
MONDO:0025085	biolink:Disease	hepatitis, viral, animal	Inflammation of the liver in animals due to viral infection.	MESH:D006524	mondo.json		http://purl.obolibrary.org/obo/MONDO_0025085	http://identifiers.org/mesh/D006524	
MONDO:0025087	biolink:Disease	classical swine fever	An acute, highly contagious disease affecting swine of all ages and caused by the classical swine fever virus. It has a sudden onset with high morbidity and mortality.	MESH:D006691|UMLS:C0019841	mondo.json	cholera, Hog|swine fever, classical|Hog cholera|swine fever	http://purl.obolibrary.org/obo/MONDO_0025087	http://identifiers.org/mesh/D006691|UMLS:C0019841	
CL:0002518	biolink:Cell	kidney epithelial cell	An epithelial cell of the kidney.	KUPO:0001019	mondo.json		http://purl.obolibrary.org/obo/CL_0002518		
GO:1900046	biolink:NamedThing	regulation of hemostasis	Any process that modulates the frequency, rate or extent of hemostasis.		mondo.json		http://purl.obolibrary.org/obo/GO_1900046		
MONDO:0025089	biolink:Disease	infectious bovine rhinotracheitis	A herpesvirus infection of cattle characterized by inflammation and necrosis of the mucous membranes of the upper respiratory tract.	MESH:D007241|UMLS:C0021334	mondo.json	bovine Rhinotracheitis, infectious|bovine Rhinotracheitides, infectious|Rhinotracheitides, infectious bovine|Rhinotracheitis, infectious bovine|infectious bovine Rhinotracheitides	http://purl.obolibrary.org/obo/MONDO_0025089	UMLS:C0021334|http://identifiers.org/mesh/D007241	
MONDO:0040654	biolink:Disease	autosomal dominant oculocutaneous albinism	Autosomal dominant form of oculocutaneous albinism.	SCTID:79417003	mondo.json	oculocutaneous albinism, autosomal dominant|autosomal dominant oculocutaneous albinism	http://purl.obolibrary.org/obo/MONDO_0040654	http://identifiers.org/snomedct/79417003	
MONDO:0040653	biolink:Disease	autosomal recessive ocular albinism	Autosomal recessive form of ocular albinism (disease).	SCTID:78921008	mondo.json	AROA|autosomal recessive ocular albinism|ocular albinism (disease), autosomal recessive|autosomal recessive ocular albinism (disease)	http://purl.obolibrary.org/obo/MONDO_0040653	http://identifiers.org/snomedct/78921008	
MONDO:0025082	biolink:Disease	helminthiasis, animal	Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary.	MESH:D006374|UMLS:C0018891	mondo.json	animal helminthiasis|Helminthiases, animal|animal Helminthiases	http://purl.obolibrary.org/obo/MONDO_0025082	UMLS:C0018891|http://identifiers.org/mesh/D006374	
NCBITaxon:35500	biolink:OrganismalEntity	Pecora		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_35500		
MONDO:0013091	biolink:Disease	glycogen storage disease IXc	A liver PhK deficiency caused by variants in the PHKG2 gene	DOID:0111043|UMLS:C2751643|OMIM:613027|MESH:C567809	mondo.json	PHKG2-related glycogen storage disease type IX|PHKG2 glycogen storage disease|GSD type 9C|GSD IXc|GSD type IXc|glycogen storage disease IXc|glycogen storage disease type IXc|glycogen storage disease caused by mutation in PHKG2|GSD9C	http://purl.obolibrary.org/obo/MONDO_0013091	http://identifiers.org/mesh/C567809|DOID:0111043|https://omim.org/entry/613027|UMLS:C2751643	
MONDO:0013092	biolink:Disease	glioma susceptibility 2	Any malignant glioma in which the cause of the disease is a mutation in the PTEN gene.	OMIM:613028	mondo.json	malignant glioma caused by mutation in PTEN|glioma susceptibility 2|GLM2|PTEN malignant glioma|glioma susceptibility type 2	http://purl.obolibrary.org/obo/MONDO_0013092	https://omim.org/entry/613028	predisposition
MONDO:0013090	biolink:Disease	chromosome 19q13.11 deletion syndrome	The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.	DOID:0060408|UMLS:C4304577|SCTID:719599008|MESH:C567810|Orphanet:217346|GARD:0010592|UMLS:C2751651	mondo.json	monosomy 19q13.11|19q13.11 microdeletion syndrome|chromosome 19Q13.11 deletion syndrome, distal|chromosome 19q13.11 deletion syndrome, distal|Del(19)(q13.11)	http://purl.obolibrary.org/obo/MONDO_0013090	http://identifiers.org/mesh/C567810|UMLS:C4304577|http://identifiers.org/snomedct/719599008|UMLS:C2751651|DOID:0060408|Orphanet:217346	gard_rare|ordo_malformation_syndrome
MONDO:0040674	biolink:Disease	orgasm disorder		ICD10CM:F52.3|SCTID:82636008	mondo.json	abnormal orgasm|orgasm disorder|orgasmic dysfunction	http://purl.obolibrary.org/obo/MONDO_0040674	http://purl.bioontology.org/ontology/ICD10CM/F52.3|http://identifiers.org/snomedct/82636008	
GO:0060294	biolink:NamedThing	cilium movement involved in cell motility	Movement of cilia mediated by motor proteins that contributes to the movement of a cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0060294		
MONDO:0040673	biolink:Disease	malignant peritoneal germ cell tumor	A malignant germ cell tumor that affects the peritoneum.	UMLS:C4526657|NCIT:C136410	mondo.json	malignant peritoneal germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0040673	NCIT:C136410|UMLS:C4526657	
GO:0060295	biolink:NamedThing	regulation of cilium movement involved in cell motility	Any process that modulates the rate frequency or extent of cilium movement involved in ciliary motility.		mondo.json		http://purl.obolibrary.org/obo/GO_0060295		
MONDO:0040671	biolink:Disease	class V glucose-6-phosphate dehydrogenase deficiency		SCTID:80963002|Orphanet:362|UMLS:C0272060	mondo.json	favism|G6PD class V variant anemia|G6PD deficiency|glucose-6-phosphate dehydrogenase deficiency class V variant anemia	http://purl.obolibrary.org/obo/MONDO_0040671	UMLS:C0272060|Orphanet:362|http://identifiers.org/snomedct/80963002	
MONDO:0013095	biolink:Disease	glioma susceptibility 6		OMIM:613031|UMLS:C2751639	mondo.json	GLM6|glioma susceptibility 6	http://purl.obolibrary.org/obo/MONDO_0013095	https://omim.org/entry/613031|UMLS:C2751639	
MONDO:0013096	biolink:Disease	glioma susceptibility 7		OMIM:613032	mondo.json	GLM7|glioma susceptibility 7	http://purl.obolibrary.org/obo/MONDO_0013096	https://omim.org/entry/613032	
MONDO:0013093	biolink:Disease	glioma susceptibility 3	Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene.	Orphanet:360|OMIM:613029	mondo.json	glioblastoma 3|BRCA2 malignant glioma|glioma susceptibility 3|GLM3|glioma susceptibility type 3|malignant glioma caused by mutation in BRCA2	http://purl.obolibrary.org/obo/MONDO_0013093	https://omim.org/entry/613029	predisposition
MONDO:0013094	biolink:Disease	glioma susceptibility 5		OMIM:613030	mondo.json	glioma susceptibility 5|GLM5	http://purl.obolibrary.org/obo/MONDO_0013094	https://omim.org/entry/613030	
GO:0098869	biolink:NamedThing	cellular oxidant detoxification	Any process carried out at the cellular level that reduces or removes the toxicity superoxide radicals or hydrogen peroxide.		mondo.json		http://purl.obolibrary.org/obo/GO_0098869		
MONDO:0013099	biolink:Disease	combined pituitary hormone deficiencies, genetic form	Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.	OMIMPS:613038|SCTID:718182008|GARD:0002252|ICD10CM:E23.0|GARD:0010602|Orphanet:95494	mondo.json	familial hypopituitarism|pituitary hormone deficiency, combined|genetic hypopituitarism|combined pituitary hormone deficiencies, genetic forms|multiple pituitary hormone deficiencies, genetic forms|familial congenital hypopituitarism	http://purl.obolibrary.org/obo/MONDO_0013099	Orphanet:95494|https://omim.org/phenotypicSeries/PS613038|http://identifiers.org/snomedct/718182008	ordo_disease|gard_rare
MONDO:0013097	biolink:Disease	glioma susceptibility 8		OMIM:613033|UMLS:C2751637	mondo.json	GLM8|glioma susceptibility 8	http://purl.obolibrary.org/obo/MONDO_0013097	UMLS:C2751637|https://omim.org/entry/613033	
MONDO:0013098	biolink:Disease	noise induced hearing loss	A condition in which a person loses the ability to hear due to exposure to high intensity sound.	OMIM:613035|SCTID:73415002|ICD9:388.12|NCIT:C34664|MESH:D006317|EFO:1001254	mondo.json	hearing loss, noise-induced, susceptibility to|NIHL|noise-induced hearing loss	http://purl.obolibrary.org/obo/MONDO_0013098	http://identifiers.org/mesh/D006317|http://identifiers.org/snomedct/73415002|https://omim.org/entry/613035|NCIT:C34664	
GO:0098871	biolink:NamedThing	postsynaptic actin cytoskeleton	The actin cytoskeleton that is part of a postsynapse.		mondo.json		http://purl.obolibrary.org/obo/GO_0098871		
MONDO:0013080	biolink:Disease	primary biliary cholangitis 3		UMLS:C2751695|MESH:C567816|OMIM:613008	mondo.json	biliary cirrhosis, primary, 3|PBC3	http://purl.obolibrary.org/obo/MONDO_0013080	https://omim.org/entry/613008|http://identifiers.org/mesh/C567816|UMLS:C2751695	
MONDO:0013081	biolink:Disease	lymphoproliferative syndrome 1	A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia..	UMLS:C3552634|DOID:0060707|Orphanet:538963|MESH:C567815|OMIM:613011|NCIT:C126344	mondo.json	lymphoproliferative syndrome 1|ITK lymphoproliferative syndrome|ITK deficiency|lymphoproliferative syndrome caused by mutation in ITK|lymphoproliferative syndrome type 1|LPFS1	http://purl.obolibrary.org/obo/MONDO_0013081	https://omim.org/entry/613011|DOID:0060707|UMLS:C3552634|http://identifiers.org/mesh/C567815|Orphanet:538963|NCIT:C126344	ordo_disease
MONDO:0025062	biolink:Disease	encephalomyelitis, enzootic porcine	A picornavirus infection producing symptoms similar to poliomyelitis in pigs.	MESH:D004682	mondo.json	poliomyelitis, porcine|disease, Teschen|Talfan disease|Teschen disease|porcine poliomyelitis|porcine encephalomyelitis, enzootic|enzootic porcine encephalomyelitis|disease, Talfan	http://purl.obolibrary.org/obo/MONDO_0025062	http://identifiers.org/mesh/D004682	
MONDO:0025061	biolink:Disease	edema disease of swine	An acute disease of young pigs that is usually associated with weaning. It is characterized clinically by paresis and subcutaneous edema.	UMLS:C0013605|MESH:D004488	mondo.json	swine edema disease|swine edema diseases	http://purl.obolibrary.org/obo/MONDO_0025061	http://identifiers.org/mesh/D004488|UMLS:C0013605	
MONDO:0025066	biolink:Disease	epidermitis, exudative, of swine	An acute generalized dermatitis of pigs which occurs from 5 to 35 days of age, characterized by sudden onset, with morbidity of 10 to 90% and mortality of 5 to 90%. The lesions are caused by Staphylococcus hyos but the bacterial agent is unable to penetrate the intact skin. Abrasions on the feet and legs or lacerations on the body frequently precede infection. In acute cases, a vesicular-type virus may be the predisposing factor. The causative organism is inhibited by most antibiotics. (Merck Veterinary Manual, 5th ed)	MESH:D004818|UMLS:C0014521	mondo.json	Epidermitis, exudative of swine|exudative dermatitis of swine|disease, greasy pig|greasy pig disease|swine exudative dermatitis|swine exudative Dermatitides	http://purl.obolibrary.org/obo/MONDO_0025066	http://identifiers.org/mesh/D004818|UMLS:C0014521	
NCBITaxon:504568	biolink:OrganismalEntity	Salmoninae		GC_ID:1	mondo.json	trouts, salmons & chars	http://purl.obolibrary.org/obo/NCBITaxon_504568		
GO:0060284	biolink:NamedThing	regulation of cell development	Any process that modulates the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate.		mondo.json		http://purl.obolibrary.org/obo/GO_0060284		
GO:0060285	biolink:NamedThing	cilium-dependent cell motility	Cell motility due to the motion of one or more eukaryotic cilia. A eukaryotic cilium is a specialized organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.		mondo.json	microtubule-based flagellar cell motility|ciliary cell motility|cilium cell motility	http://purl.obolibrary.org/obo/GO_0060285		
MONDO:0040678	biolink:Disease	infiltrating urothelial carcinoma	A invasive carcinoma that involves the urothelium.	UMLS:C1512751|NCIT:C39853	mondo.json	infiltrating urothelial carcinoma|infiltrating transitional cell carcinoma of the urinary tract	http://purl.obolibrary.org/obo/MONDO_0040678	UMLS:C1512751|NCIT:C39853	
GO:1900073	biolink:NamedThing	regulation of neuromuscular synaptic transmission	Any process that modulates the frequency, rate or extent of neuromuscular synaptic transmission.		mondo.json		http://purl.obolibrary.org/obo/GO_1900073		
MONDO:0040677	biolink:Disease	invasive carcinoma	A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma.	NCIT:C9480|UMLS:C1334274	mondo.json	invasive carcinoma	http://purl.obolibrary.org/obo/MONDO_0040677	UMLS:C1334274|NCIT:C9480	
MONDO:0040676	biolink:Disease	great vessel cancer	A malignant neoplasm arising from the great vessels.	NCIT:C4575|UMLS:C3665405	mondo.json	malignant great vessel of heart neoplasm|great vessel of heart cancer|malignant neoplasm of great vessel of heart|malignant great vessel neoplasm|cancer of great vessel of heart|malignant great vessel tumor|great vessel cancer	http://purl.obolibrary.org/obo/MONDO_0040676	NCIT:C4575|UMLS:C3665405	
GO:1900075	biolink:NamedThing	positive regulation of neuromuscular synaptic transmission	Any process that activates or increases the frequency, rate or extent of neuromuscular synaptic transmission.		mondo.json	up regulation of neuromuscular synaptic transmission|upregulation of neuromuscular synaptic transmission|activation of neuromuscular synaptic transmission|up-regulation of neuromuscular synaptic transmission	http://purl.obolibrary.org/obo/GO_1900075		
GO:1900074	biolink:NamedThing	negative regulation of neuromuscular synaptic transmission	Any process that stops, prevents or reduces the frequency, rate or extent of neuromuscular synaptic transmission.		mondo.json	inhibition of neuromuscular synaptic transmission|down-regulation of neuromuscular synaptic transmission|down regulation of neuromuscular synaptic transmission|downregulation of neuromuscular synaptic transmission	http://purl.obolibrary.org/obo/GO_1900074		
MONDO:0040675	biolink:Disease	myofibroblastoma	A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma.	ICDO:8825/0|NCIT:C49012	mondo.json	myofibroblastoma	http://purl.obolibrary.org/obo/MONDO_0040675	NCIT:C49012	
MONDO:0040679	biolink:Disease	urothelial carcinoma	A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary.	NCIT:C4030|EFO:0008528|UMLS:C2145472	mondo.json	transitional cell car. -uroth.|Uroepithelial carcinoma|urothelial carcinoma|transitional cell carcinoma of the urothelial tract|transitional cell carcinoma of the urinary tract	http://purl.obolibrary.org/obo/MONDO_0040679	UMLS:C2145472|NCIT:C4030	
MONDO:0013084	biolink:Disease	neuroblastoma, susceptibility to, 4		Orphanet:635|OMIM:613015	mondo.json	NBLST4|neuroblastoma, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0013084	https://omim.org/entry/613015	predisposition
MONDO:0013085	biolink:Disease	neuroblastoma, susceptibility to, 5		Orphanet:635|OMIM:613016	mondo.json	NBLST5|neuroblastoma, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0013085	https://omim.org/entry/613016	predisposition
MONDO:0013082	biolink:Disease	Hirschsprung disease-ganglioneuroblastoma syndrome	A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated.	Orphanet:635|GARD:0002695|Orphanet:2151|MESH:C538119|UMLS:C2751683	mondo.json	neuroblastoma with Hirschsprung disease|Hirschsprung disease ganglioneuroblastoma	http://purl.obolibrary.org/obo/MONDO_0013082	UMLS:C2751683|http://identifiers.org/mesh/C538119|Orphanet:2151	predisposition|ordo_malformation_syndrome
MONDO:0013083	biolink:Disease	neuroblastoma, susceptibility to, 3	Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene.	Orphanet:635|OMIM:613014	mondo.json	neuroblastoma, susceptibility to, type 3|susceptibility to neuroblastoma 3|ALK neuroblastoma|neuroblastoma, susceptibility to, 3|NBLST3|neuroblastoma caused by mutation in ALK	http://purl.obolibrary.org/obo/MONDO_0013083	https://omim.org/entry/613014	predisposition
MONDO:0013088	biolink:Disease	follicular lymphoma, susceptibility to, 1		OMIM:613024	mondo.json	follicular lymphoma, susceptibility to, 1|FL1	http://purl.obolibrary.org/obo/MONDO_0013088	https://omim.org/entry/613024	predisposition
MONDO:0013089	biolink:Disease	schizophrenia 13	A schizophrenia that has material basis in a mutation on chromosome 15q13.	DOID:0070089|UMLS:C2751663|OMIM:613025	mondo.json	schizophrenia susceptibility locus, chromosome 15Q13-q14-related|schizophrenia, Neurophysiologic defect 1N|schizophrenia, susceptibility to, 13|schizophrenia 13|SCZD13	http://purl.obolibrary.org/obo/MONDO_0013089	UMLS:C2751663|https://omim.org/entry/613025|DOID:0070089	
MONDO:0013086	biolink:Disease	neuroblastoma, susceptibility to, 6		Orphanet:635|OMIM:613017	mondo.json	NBLST6|neuroblastoma, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0013086	https://omim.org/entry/613017	predisposition
MONDO:0013087	biolink:Disease	bronchiectasis with or without elevated sweat chloride 2	Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1A gene.	OMIM:613021|DOID:0080527|UMLS:C2751666|MESH:C567813	mondo.json	cystic fibrosis-like syndrome|bronchiectasis caused by mutation in SCNN1A|SCNN1A bronchiectasis|bronchiectasis with or without elevated sweat chloride 2|BESC2|bronchiectasis with or without elevated sweat chloride type 2	http://purl.obolibrary.org/obo/MONDO_0013087	UMLS:C2751666|https://omim.org/entry/613021|http://identifiers.org/mesh/C567813|DOID:0080527	
MONDO:0001004	biolink:Disease	slate pneumoconiosis	Pneumoconiosis caused by exposure to slate dust.	NCIT:C35397|SCTID:1259003|DOID:10330|UMLS:C0340186|ICD9:502	mondo.json	Schistosis	http://purl.obolibrary.org/obo/MONDO_0001004	http://identifiers.org/snomedct/1259003|UMLS:C0340186|DOID:10330|NCIT:C35397	
NCBITaxon:11584	biolink:OrganismalEntity	Phlebovirus		GC_ID:1	mondo.json	Phleboviruses	http://purl.obolibrary.org/obo/NCBITaxon_11584		
MONDO:0003667	biolink:Disease	obsolete spermatocytoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003667		
MONDO:0003668	biolink:Disease	extragonadal seminoma		UMLS:C1333502|DOID:5838|NCIT:C7327	mondo.json	primary extragonadal seminoma|extragonadal seminoma|extragonadal primary seminoma	http://purl.obolibrary.org/obo/MONDO_0003668	NCIT:C7327|UMLS:C1333502|DOID:5838	
MONDO:0001003	biolink:Disease	pneumoconiosis due to talc	Pneumoconiosis caused by exposure to talc. It is characterized by fibrosis and granulomatous changes in the lung parenchyma. Chest x-rays reveal diffuse lung opacities and pleural abnormalities.	UMLS:C0238377|NCIT:C27026|DOID:10329|ICD9:502|SCTID:73144008	mondo.json	talc pneumoconiosis	http://purl.obolibrary.org/obo/MONDO_0001003	NCIT:C27026|http://identifiers.org/snomedct/73144008|DOID:10329|UMLS:C0238377	
MONDO:0003669	biolink:Disease	testicular seminoma	A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma.	NCIT:C7328|EFO:0003101|Orphanet:842|GARD:0004792|ICD9:186.9|HP:0100617|SCTID:255107005|DOID:5842	mondo.json	testicular seminoma Pure|seminoma of the testis|testis seminoma|testicular seminoma (disease)|testicular seminomatous germ cell tumor|seminomatous germ cell tumor of testis|testicular seminoma|seminoma testis|seminoma of testis	http://purl.obolibrary.org/obo/MONDO_0003669	Orphanet:842|NCIT:C7328|http://identifiers.org/snomedct/255107005|DOID:5842	gard_rare|ordo_disease
MONDO:0001002	biolink:Disease	obsolete pulmonary siderosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001002		
MONDO:0001001	biolink:Disease	baritosis	A rare type of pneumoconiosis caused by long standing exposure to barium dust. It is characterized by the formation of fine dense lesions in the lung parenchyma. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops.	DOID:10321|SCTID:50076003|UMLS:C0340177|ICD9:503|GARD:0008371|NCIT:C34410|MESH:C537080	mondo.json	deposition of barium in the lungs|inhalation of barytes	http://purl.obolibrary.org/obo/MONDO_0001001	UMLS:C0340177|DOID:10321|http://identifiers.org/snomedct/50076003|http://identifiers.org/mesh/C537080|NCIT:C34410	gard_rare
MONDO:0003663	biolink:Disease	uterine ligament endometrioid adenocarcinoma	A rare endometrioid adenocarcinoma that arises from the uterine ligament. Some of the reported cases were associated with endometriosis.	NCIT:C40138|DOID:5829|UMLS:C1519868	mondo.json	endometrioid adenocarcinoma of uterine ligament|uterine ligament endometrioid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003663	UMLS:C1519868|NCIT:C40138|DOID:5829	
MONDO:0001008	biolink:Disease	blepharophimosis	The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed)	DOID:10348|GARD:0005932|ICD9:374.46|MESH:D016569|HP:0000581	mondo.json	blepharophimosis|blepharophimosis (disease)	http://purl.obolibrary.org/obo/MONDO_0001008	DOID:10348|http://identifiers.org/mesh/D016569	
NCBITaxon:11588	biolink:OrganismalEntity	Rift Valley fever virus		GC_ID:1	mondo.json	RVFV	http://purl.obolibrary.org/obo/NCBITaxon_11588		
UBERON:0012283	biolink:AnatomicalEntity	femoral fat pad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012283		
MONDO:0001007	biolink:Disease	chronic meningitis	Chronic form of meningitis (disease).	ICD10CM:G03.1|ICD9:322.2|DOID:10341|UMLS:C0154653|SCTID:21664006	mondo.json	meningitis (disease), chronic|chronic meningitis (disease)	http://purl.obolibrary.org/obo/MONDO_0001007	http://identifiers.org/snomedct/21664006|http://purl.bioontology.org/ontology/ICD10CM/G03.1|DOID:10341|UMLS:C0154653	
MONDO:0003664	biolink:Disease	hemolytic anemia	Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies.	SCTID:61261009|ICD10CM:D55-D59|DOID:583|MESH:D000743|NCIT:C34376|EFO:0005558	mondo.json	anemia, hemolytic|hemolytic anemia|anemia hemolytic	http://purl.obolibrary.org/obo/MONDO_0003664	http://purl.bioontology.org/ontology/ICD10CM/D55-D59|NCIT:C34376|DOID:583|http://identifiers.org/mesh/D000743|http://identifiers.org/snomedct/61261009	
UBERON:0036253	biolink:AnatomicalEntity	orifice of skull			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036253		
MONDO:0003665	biolink:Disease	cervical endometrioid adenocarcinoma	A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium.	UMLS:C1332913|ONCOTREE:CEEN|NCIT:C6343|EFO:1000164|DOID:5830	mondo.json	cervical endometrioid carcinoma|endometrioid adenocarcinoma of cervix|endometrioid adenocarcinoma of the cervix|endometrioid adenocarcinoma of cervix uteri|cervical endometrioid adenocarcinoma|endometrioid adenocarcinoma of uterine cervix|endometrioid adenocarcinoma of the cervix uteri|endometrioid adenocarcinoma of the uterine cervix|uterine cervix endometrioid carcinoma|uterine cervix endometrioid adenocarcinoma|cervix uteri endometrioid carcinoma|endometrioid carcinoma of cervix|endometrioid carcinoma of the cervix|cervix endometrioid adenocarcinoma|cervix endometrioid carcinoma|endometrioid carcinoma of cervix uteri|endometrioid carcinoma of uterine cervix|endometrioid carcinoma of the uterine cervix|cervix uteri endometrioid adenocarcinoma|endometrioid carcinoma of the cervix uteri	http://purl.obolibrary.org/obo/MONDO_0003665	NCIT:C6343|DOID:5830|UMLS:C1332913	
MONDO:0001006	biolink:Disease	glaucomatous atrophy of optic disc		ICD9:377.14|DOID:10337|UMLS:C0271342|SCTID:1207009	mondo.json	glaucomatous atrophy [cupping] of optic disc	http://purl.obolibrary.org/obo/MONDO_0001006	DOID:10337|UMLS:C0271342|http://identifiers.org/snomedct/1207009	
GO:0050820	biolink:NamedThing	positive regulation of coagulation	Any process that activates or increases the frequency, rate or extent of coagulation.		mondo.json	upregulation of coagulation|up-regulation of coagulation|positive regulation of clotting|up regulation of coagulation|activation of coagulation|stimulation of coagulation	http://purl.obolibrary.org/obo/GO_0050820		
UBERON:0012282	biolink:AnatomicalEntity	mammary fat pad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012282		
MONDO:0001005	biolink:Disease	kaolin pneumoconiosis	Pneumoconiosis caused by inhalation of kaolin dust.	DOID:10331|SCTID:36696005|GARD:0008355|UMLS:C0264435|NCIT:C35315|ICD9:502	mondo.json	Kaolinosis|simple kaolinosis	http://purl.obolibrary.org/obo/MONDO_0001005	UMLS:C0264435|DOID:10331|http://identifiers.org/snomedct/36696005|NCIT:C35315	gard_rare
MONDO:0003666	biolink:Disease	fallopian tube endometrioid adenocarcinoma	An adenocarcinoma that arises from the fallopian tube and resembles the endometrioid adenocarcinoma of the uterus. It usually has a favorable prognosis.	UMLS:C1333592|NCIT:C6279|UMLS:C1517113|NCIT:C40111|DOID:5831	mondo.json	fallopian tube endometrioid adenocarcinoma|fallopian tube endometrioid cancer|fallopian tube endometrioid carcinoma|endometrioid carcinoma of fallopian tube|endometrioid carcinoma of the fallopian tube|endometrioid adenocarcinoma of fallopian tube|fallopian tube endometrioid neoplasm|endometrioid adenocarcinoma of the fallopian tube	http://purl.obolibrary.org/obo/MONDO_0003666	NCIT:C6279|UMLS:C1333592|DOID:5831	
UBERON:0012281	biolink:AnatomicalEntity	perianal sebaceous gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012281		
MONDO:0003660	biolink:Disease	adult lymphoma	A lymphoma that occurs in an adult.	NCIT:C7587|DOID:5825|UMLS:C1332206	mondo.json	lymphoma of adults|adult lymphoma|lymphoma	http://purl.obolibrary.org/obo/MONDO_0003660	UMLS:C1332206|DOID:5825|NCIT:C7587	
NCBITaxon:60516	biolink:OrganismalEntity	Dibothriocephalus latus		GC_ID:1	mondo.json	Diphyllobothrium latum|broad fish tapeworm	http://purl.obolibrary.org/obo/NCBITaxon_60516		
UBERON:0012287	biolink:AnatomicalEntity	Rathkes pouch epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012287		
MONDO:0003661	biolink:Disease	breast lymphoma	A lymphoma that arises from the breast. There is no history of extramammary breast lymphoma and ipsilateral axillary lymph node involvement does not exclude the diagnosis of primary breast lymphoma. Most patients present with a painless breast lump. The vast majority of cases are B-cell non-Hodgkin lymphomas. Diffuse large B-cell lymphoma, follicular lymphoma, and extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue are the most common types of primary non-Hodgkin lymphoma of the breast. Primary Hodgkin lymphoma of the breast is rare.	UMLS:C0349669|SCTID:278052009|UMLS:C1704251|DOID:5826|NCIT:C4671	mondo.json	malignant lymphoma of breast|lymphoma of breast|breast lymphoma|lymphoma of the breast|primary breast lymphoma	http://purl.obolibrary.org/obo/MONDO_0003661	UMLS:C0349669|http://identifiers.org/snomedct/278052009|NCIT:C4671|DOID:5826|UMLS:C1704251	
MONDO:0003662	biolink:Disease	obsolete endometrioid ovary carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003662		
MONDO:0001000	biolink:Disease	mixed mineral dust pneumoconiosis	Pneumoconiosis caused by the inhalation of mixed mineral dust particles.	UMLS:C0340184|ICD9:503|DOID:10319|SCTID:233759002|NCIT:C27559	mondo.json	mineral dust pneumoconiosis|pneumoconiosis from mineral dust|mineral duct pneumoconiosis|mixed mineral dust pneumoconiosis	http://purl.obolibrary.org/obo/MONDO_0001000	UMLS:C0340184|NCIT:C27559|DOID:10319|http://identifiers.org/snomedct/233759002	
HGNC:24475	biolink:NamedThing	DMGDH			mondo.json		http://identifiers.org/hgnc/24475		
GO:2001273	biolink:NamedThing	obsolete regulation of glucose import in response to insulin stimulus	OBSOLETE. Any process that modulates the frequency, rate or extent of glucose import in response to insulin stimulus.		mondo.json	regulation of cellular glucose import in response to insulin stimulus	http://purl.obolibrary.org/obo/GO_2001273		
MONDO:0015656	biolink:Disease	obsolete metabolic disease with epilepsy		Orphanet:166481|UMLS:C1299598	mondo.json	metabolic diseases with epilepsy	http://purl.obolibrary.org/obo/MONDO_0015656	UMLS:C1299598|Orphanet:166481	ordo_group_of_disorders
GO:2001274	biolink:NamedThing	obsolete negative regulation of glucose import in response to insulin stimulus	OBSOLETE. Any process that stops, prevents or reduces the frequency, rate or extent of glucose import in response to insulin stimulus.		mondo.json	negative regulation of cellular glucose import in response to insulin stimulus	http://purl.obolibrary.org/obo/GO_2001274		
MONDO:0015655	biolink:Disease	obsolete cerebral malformation with epilepsy		Orphanet:166478	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015655	Orphanet:166478	ordo_group_of_disorders
MONDO:0015654	biolink:Disease	obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes		Orphanet:166475|UMLS:CN200064	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015654	Orphanet:166475|UMLS:CN200064	ordo_group_of_disorders
GO:2001275	biolink:NamedThing	obsolete positive regulation of glucose import in response to insulin stimulus	OBSOLETE. Any process that activates or increases the frequency, rate or extent of glucose import in response to insulin stimulus.		mondo.json	positive regulation of cellular glucose import in response to insulin stimulus	http://purl.obolibrary.org/obo/GO_2001275		
MONDO:0015653	biolink:Disease	monogenic epilepsy		UMLS:CN200063|Orphanet:166472	mondo.json	monogenic disease with epilepsy	http://purl.obolibrary.org/obo/MONDO_0015653	Orphanet:166472|UMLS:CN200063	ordo_group_of_disorders|disease_grouping
MONDO:0015659	biolink:Disease	obsolete infectious disease with epilepsy		Orphanet:166490|UMLS:CN200068	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015659	Orphanet:166490|UMLS:CN200068	ordo_group_of_disorders
MONDO:0015658	biolink:Disease	obsolete cerebral diseases of vascular origin with epilepsy		Orphanet:166487|UMLS:CN200067	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015658	Orphanet:166487|UMLS:CN200067	ordo_group_of_disorders
MONDO:0015657	biolink:Disease	obsolete inflammatory and autoimmune disease with epilepsy		UMLS:CN200066|Orphanet:166484	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015657	Orphanet:166484|UMLS:CN200066	ordo_group_of_disorders
MONDO:0015652	biolink:Disease	obsolete chromosomal anomaly with epilepsy as a major feature		Orphanet:166469	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015652	Orphanet:166469	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0015651	biolink:Disease	obsolete neurocutaneous syndrome with epilepsy		Orphanet:166466|UMLS:CN200062	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015651	Orphanet:166466|UMLS:CN200062	ordo_group_of_disorders
HGNC:12496	biolink:NamedThing	UBE3A			mondo.json		http://identifiers.org/hgnc/12496		
HGNC:7045	biolink:NamedThing	MGAT2			mondo.json		http://identifiers.org/hgnc/7045		
MONDO:0015650	biolink:Disease	epilepsy syndrome		Orphanet:166463	mondo.json	syndromic epilepsy|epileptic syndrome	http://purl.obolibrary.org/obo/MONDO_0015650	Orphanet:166463	ordo_group_of_disorders|disease_grouping
MONDO:0001015	biolink:Disease	eosinophilic meningitis	Meningitis in which eosinophils predominate in the cerebrospinal fluid.	NCIT:C128374|SCTID:25671008|ICD9:322.1|DOID:10361|UMLS:C0154652	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001015	http://identifiers.org/snomedct/25671008|DOID:10361|UMLS:C0154652|NCIT:C128374	
MONDO:0003678	biolink:Disease	silent myocardial infarction	A history of myocardial infarction in the absence of clinical symptoms and positive electrocardiographic findings.	NCIT:C35400|SCTID:233843008|UMLS:C0340324|DOID:5854	mondo.json	silent myocardial infarction	http://purl.obolibrary.org/obo/MONDO_0003678	UMLS:C0340324|http://identifiers.org/snomedct/233843008|NCIT:C35400|DOID:5854	
MONDO:0001014	biolink:Disease	chronic leukemia	A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.	SCTID:92812005|UMLS:C1279296|NCIT:C3483|ICD9:208.10|DOID:1036	mondo.json	adult chronic leukemia|chronic leukemia|leukemia (disease), chronic|chronic leukemia (disease)|CLL|CML	http://purl.obolibrary.org/obo/MONDO_0001014	DOID:1036|NCIT:C3483|http://identifiers.org/snomedct/92812005|UMLS:C1279296	
MONDO:0003679	biolink:Disease	anteroseptal myocardial infarction		MESH:D056988|DOID:5855|UMLS:C0262565	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003679	UMLS:C0262565|DOID:5855	
MONDO:0001013	biolink:Disease	obsolete fibrosclerosis of breast			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001013		
HGNC:24488	biolink:NamedThing	POC1A			mondo.json		http://identifiers.org/hgnc/24488		
MONDO:0001012	biolink:Disease	obsolete breast fibroadenosis		SCTID:23260002|ICD9:610.2|DOID:10352|UMLS:C1305875|ICD10CM:N60.2	mondo.json	fibroadenosis - breast|fibroadenosis of breast	http://purl.obolibrary.org/obo/MONDO_0001012	http://identifiers.org/snomedct/23260002|DOID:10352|http://purl.bioontology.org/ontology/ICD10CM/N60.2|UMLS:C1305875	
MONDO:0003674	biolink:Disease	subendocardial myocardial infarction	An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the subendocardial layer of the wall of the heart.	DOID:5849|UMLS:C0262568	mondo.json	myocardial infarction (disease) of subendocardium layer|subendocardium layer myocardial infarction (disease)	http://purl.obolibrary.org/obo/MONDO_0003674	UMLS:C0262568|DOID:5849	
UBERON:0012273	biolink:AnatomicalEntity	periampullary region of duodenum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012273		
MONDO:0001019	biolink:Disease	suppression amblyopia	A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. strabismus and refractive errors may cause this condition. Toxic amblyopia is a disorder of the optic nerve which is associated with alcoholism, tobacco smoking, and other toxins and as an adverse effect of the use of some medications.	UMLS:C0750903|DOID:10375|SCTID:35600002|ICD9:368.01	mondo.json	strabismic amblyopia	http://purl.obolibrary.org/obo/MONDO_0001019	UMLS:C0750903|DOID:10375|http://identifiers.org/snomedct/35600002	
UBERON:0036262	biolink:AnatomicalEntity	uterine ligament			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036262		
MONDO:0003675	biolink:Disease	posterolateral myocardial infarction	An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posterolateral wall of the heart.	DOID:5851	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003675	DOID:5851	
MONDO:0001018	biolink:Disease	obsolete lymphoblastic leukemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001018		
UBERON:0036264	biolink:AnatomicalEntity	zygomaticotemporal nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036264		
MONDO:0001017	biolink:Disease	epididymal adenocarcinoma	A rare adenocarcinoma that arises from the epididymis. It usually presents as a scrotal mass and may be associated with testicular pain.	DOID:10368|UMLS:C1510784|NCIT:C39957	mondo.json	adenocarcinoma of the epididymis|epididymal adenocarcinoma|epididymis adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0001017	UMLS:C1510784|DOID:10368|NCIT:C39957	
MONDO:0003676	biolink:Disease	inferolateral myocardial infarct	An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the inferolateral wall of the heart.	DOID:5852	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003676	DOID:5852	
ENVO:00000194	biolink:NamedThing	scree	Broken rock that appears at the bottom of crags, mountain cliffs or valley shoulders.		mondo.json	TALUS|talus slope	http://purl.obolibrary.org/obo/ENVO_00000194		
MONDO:0001016	biolink:Disease	epididymis cancer	A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site.	DOID:10366|NCIT:C3558|ICD9:187.5|UMLS:C0153602|SCTID:363452003	mondo.json	malignant epididymal tumor|malignant epididymal neoplasm|malignant tumor of epididymis|malignant tumor of the epididymis|epididymis cancer|malignant neoplasm of epididymis|malignant neoplasm of the epididymis|cancer of epididymis|malignant epididymis neoplasm	http://purl.obolibrary.org/obo/MONDO_0001016	DOID:10366|UMLS:C0153602|NCIT:C3558|http://identifiers.org/snomedct/363452003	
MONDO:0003677	biolink:Disease	lateral myocardial infarction		DOID:5853	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003677	DOID:5853	
UBERON:0036263	biolink:AnatomicalEntity	supraglottic part of larynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036263		
UBERON:0036266	biolink:AnatomicalEntity	pars interarticularis of vertebra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036266		
ENVO:00000191	biolink:NamedThing	solid astronomical body part	A part of an astronomical body which is primarily composed of a continuous volume of solid material, shaped by one or more environmental processes.		mondo.json	geological feature|physiographic feature	http://purl.obolibrary.org/obo/ENVO_00000191		
MONDO:0003670	biolink:Disease	posteroinferior myocardial infarction	An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posteroinferior wall of the heart.	DOID:5843	mondo.json	posteroinferior myocardial infarction by ECG finding|posteroinferior myocardial infarction by EKG finding	http://purl.obolibrary.org/obo/MONDO_0003670	DOID:5843	
MONDO:0003671	biolink:Disease	septal myocardial infarction	A myocardial infarction (disease) that involves the cardiac septum.	DOID:5846	mondo.json	myocardial infarction (disease) of cardiac septum|cardiac septum myocardial infarction (disease)	http://purl.obolibrary.org/obo/MONDO_0003671	DOID:5846	
UBERON:0012276	biolink:AnatomicalEntity	endometrium glandular epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012276		
MONDO:0003672	biolink:Disease	posterior myocardial infarction		SCTID:194802003|DOID:5847|UMLS:C0264706	mondo.json	true posterior wall infarction|true posterior myocardial infarction	http://purl.obolibrary.org/obo/MONDO_0003672	http://identifiers.org/snomedct/194802003|DOID:5847|UMLS:C0264706	
UBERON:0012275	biolink:AnatomicalEntity	meso-epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012275		
UBERON:0036268	biolink:AnatomicalEntity	pelvic vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036268		
MONDO:0015639	biolink:Disease	benign partial epilepsy with secondarily generalized seizures in infancy	Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal.	Orphanet:166302|UMLS:CN226718	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015639	UMLS:CN226718|Orphanet:166302	ordo_disease
MONDO:0003673	biolink:Disease	apical myocardial infarction	An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the apex of the heart.	DOID:5848	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003673	DOID:5848	
UBERON:0036267	biolink:AnatomicalEntity	vulval vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036267		
UBERON:0012274	biolink:AnatomicalEntity	columnar epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012274		
MONDO:0001011	biolink:Disease	breast cyst	A cystic lesion located in breast tissue.	DOID:10350|SCTID:399294002|MESH:D047688|EFO:1000848	mondo.json	cyst of the breast	http://purl.obolibrary.org/obo/MONDO_0001011	http://identifiers.org/mesh/D047688|DOID:10350|http://identifiers.org/snomedct/399294002	
UBERON:0036269	biolink:AnatomicalEntity	penis blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036269		
MONDO:0001010	biolink:Disease	obsolete natural killer cell leukemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001010		
GO:0050839	biolink:NamedThing	cell adhesion molecule binding	Binding to a cell adhesion molecule.		mondo.json	cell adhesion receptor activity|adhesive extracellular matrix constituent|cell adhesion molecule activity|CAM binding	http://purl.obolibrary.org/obo/GO_0050839		
NCBITaxon:203691	biolink:OrganismalEntity	Spirochaetes		PMID:29458499|PMID:26654112|PMID:11837318|GC_ID:11	mondo.json	Spirochaetaeota|Spirochaetae|Spirochaetota	http://purl.obolibrary.org/obo/NCBITaxon_203691		
NCBITaxon:203692	biolink:OrganismalEntity	Spirochaetia		GC_ID:11|PMID:25288668|PMID:26654112|PMID:11837318	mondo.json	"Leptospiria" Cavalier-Smith 2020|Spirochaetes	http://purl.obolibrary.org/obo/NCBITaxon_203692		
UBERON:0012278	biolink:AnatomicalEntity	gland of nasal mucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012278		
MONDO:0015645	biolink:Disease	eating seizures		Orphanet:166418|UMLS:C0393725|SCTID:230450001	mondo.json	eating reflex epilepsy|eating epilepsy	http://purl.obolibrary.org/obo/MONDO_0015645	UMLS:C0393725|http://identifiers.org/snomedct/230450001|Orphanet:166418	ordo_disease
MONDO:0015644	biolink:Disease	audiogenic seizures	Audiogenic seizures is a rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice).	SCTID:765216006|Orphanet:166415|UMLS:C0751791	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015644	UMLS:C0751791|Orphanet:166415|http://identifiers.org/snomedct/765216006	ordo_disease
CHEBI:86327	biolink:ChemicalSubstance	antifungal drug	Any antifungal agent used to prevent or treat fungal infections in humans or animals.		mondo.json	antifungal medication|antifungal medications|antifungal drugs|pharmaceutical fungicides|anti-fungal drug|anti-fungal medications|anti-fungal medication|anti-fungal drugs|pharmaceutical fungicide	http://purl.obolibrary.org/obo/CHEBI_86327		
MONDO:0015643	biolink:Disease	photosensitive epilepsy	An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.	UMLS:C0393720|SCTID:95208000|DOID:0060281|Orphanet:166409|ICD9:345.80|OMIMPS:132100|GARD:0005648	mondo.json	photogenic epilepsy|photoparoxysmal response|PSE	http://purl.obolibrary.org/obo/MONDO_0015643	DOID:0060281|UMLS:C0393720|http://identifiers.org/snomedct/95208000|Orphanet:166409|https://omim.org/phenotypicSeries/PS132100	ordo_disease|gard_rare
MONDO:0015642	biolink:Disease	benign partial infantile seizures		Orphanet:166311	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015642	Orphanet:166311	disease_grouping|ordo_group_of_disorders
MONDO:0015649	biolink:Disease	micturation-induced seizures	Micturition-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases.	Orphanet:166430|UMLS:CN200059	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015649	Orphanet:166430|UMLS:CN200059	ordo_disease
MONDO:0015648	biolink:Disease	startle epilepsy	Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability.	Orphanet:166427|SCTID:763632004|UMLS:CN200058	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015648	http://identifiers.org/snomedct/763632004|Orphanet:166427|UMLS:CN200058	ordo_disease
MONDO:0015647	biolink:Disease	thinking seizures	Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed.	SCTID:763622006|Orphanet:166424|UMLS:CN200057	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015647	http://identifiers.org/snomedct/763622006|Orphanet:166424|UMLS:CN200057	ordo_disease
MONDO:0015646	biolink:Disease	orgasm-induced seizures	Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine.	Orphanet:166421|UMLS:CN200056	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015646	Orphanet:166421|UMLS:CN200056	ordo_disease
MONDO:0001009	biolink:Disease	solitary cyst of breast	A single, fluid-filled cyst in the breast parenchyma.	ICD9:610.0|DOID:10349|SCTID:266578003|ICD10CM:N60.0	mondo.json	solitary cyst of breast|solitary cyst of the breast	http://purl.obolibrary.org/obo/MONDO_0001009	DOID:10349|http://purl.bioontology.org/ontology/ICD10CM/N60.0|http://identifiers.org/snomedct/266578003	
MONDO:0015641	biolink:Disease	benign infantile focal epilepsy with midline spikes and wave during sleep	Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.	Orphanet:166308	mondo.json	benign infantile focal epilepsy with midline spikes and waves during sleep|BIMSE	http://purl.obolibrary.org/obo/MONDO_0015641	Orphanet:166308	ordo_disease
MONDO:0015640	biolink:Disease	benign infantile seizures associated with mild gastroenteritis	Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness.	Orphanet:166305|SCTID:765756007	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015640	Orphanet:166305|http://identifiers.org/snomedct/765756007	ordo_disease
MONDO:0003645	biolink:Disease	cavernous hemangioma of face	A cavernous hemangioma arising from the face.	DOID:5776|NCIT:C7053|EFO:1000152|UMLS:C1332863|HP:0007486	mondo.json	cavernous hemangioma of face|cavernous hemangioma of the Face|face cavernous hemangioma	http://purl.obolibrary.org/obo/MONDO_0003645	DOID:5776|UMLS:C1332863|NCIT:C7053	
MONDO:0003646	biolink:Disease	rectum neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the rectum. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	DOID:5777|UMLS:C1335686|NCIT:C5698|Orphanet:100081	mondo.json	rectum NET|neuroendocrine tumor of rectum|rectal neuroendocrine neoplasm|rectum neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of rectum|NET of the rectum|rectum neuroendocrine neoplasm|rectum neuroendocrine tumor|rectal NET|neuroendocrine neoplasm of the rectum	http://purl.obolibrary.org/obo/MONDO_0003646	DOID:5777|NCIT:C5698|Orphanet:100081|UMLS:C1335686	
MONDO:0003647	biolink:Disease	atrophic flaccid tympanic membrane		ICD9:384.81|UMLS:C0155470|DOID:5781|SCTID:38645004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003647	DOID:5781|UMLS:C0155470|http://identifiers.org/snomedct/38645004	
MONDO:0003648	biolink:Disease	tympanic membrane disorder	A disease involving the tympanic membrane.	UMLS:C0041825|SCTID:21426000|DOID:5782|ICD9:384.9	mondo.json	tympanic membrane disease or disorder|disease of tympanic membrane|disorder of tympanic membrane|tympanic membrane disease|disease or disorder of tympanic membrane	http://purl.obolibrary.org/obo/MONDO_0003648	DOID:5782|http://identifiers.org/snomedct/21426000|UMLS:C0041825	
HGNC:7060	biolink:NamedThing	MGP			mondo.json		http://identifiers.org/hgnc/7060		
MONDO:0003641	biolink:Disease	central nervous system hematopoietic neoplasm	A primary or metastatic neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord. Representative examples include Hodgkin and non-Hodgkin lymphomas, histiocytic tumors, and leukemias.	UMLS:C1332882|DOID:5772|NCIT:C5503	mondo.json	CNS hematopoietic neoplasm|CNS hematopoietic tumor|central nervous system hematopoietic neoplasm|hematopoietic and lymphoid system neoplasm of central nervous system|hematopoietic tumor of central nervous system|hematopoietic tumor of the central nervous system|central nervous system hematopoietic and lymphoid system neoplasm|lymphomas and hemopoietic neoplasms of the CNS|lymphomas and hemopoietic neoplasms of CNS|hematopoietic neoplasm of the central nervous system|hematopoietic neoplasm of the CNS|hematopoietic neoplasm of CNS|central nervous system hematopoietic tumor|central nervous system hematologic cancer|central nervous system hematopoietic neoplasms|hematopoietic neoplasm of central nervous system	http://purl.obolibrary.org/obo/MONDO_0003641	NCIT:C5503|DOID:5772|UMLS:C1332882	
MONDO:0003642	biolink:Disease	obsolete oral submucous fibrosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003642		
MONDO:0003643	biolink:Disease	giant hemangioma	A cavernous hemangioma characterized by the presence of hylanized vascular channels and is often associated with the presence of calcifications, fibrosis, and hemorrhage.	DOID:5774|NCIT:C27777|UMLS:C1333817	mondo.json	giant hemangioma	http://purl.obolibrary.org/obo/MONDO_0003643	NCIT:C27777|UMLS:C1333817|DOID:5774	
MONDO:0003644	biolink:Disease	cavernous hemangioma of colon	A cavernous hemangioma arising from the colon.	UMLS:C1333086|DOID:5775|NCIT:C5395	mondo.json	colonic cavernous angioma|cavernous angioma of the colon|cavernous angioma of colon|colon cavernous hemangioma|colon cavernous angioma|cavernous hemangioma of the colon|cavernous hemangioma of colon|colonic cavernous hemangioma	http://purl.obolibrary.org/obo/MONDO_0003644	DOID:5775|NCIT:C5395|UMLS:C1333086	
UBERON:0036274	biolink:AnatomicalEntity	tonsillar pillar			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036274		
MONDO:0015629	biolink:Disease	von Willebrand disease type 2B	A subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma.	Orphanet:166087|SCTID:359717002|SCTID:359721009|NCIT:C131687|UMLS:C1282971	mondo.json	von Willebrand disease type 2B|von Willebrand disease, type 2B	http://purl.obolibrary.org/obo/MONDO_0015629	UMLS:C1282971|NCIT:C131687|http://identifiers.org/snomedct/359721009|http://identifiers.org/snomedct/359717002|Orphanet:166087	ordo_clinical_subtype
MONDO:0003640	biolink:Disease	verruciform xanthoma of skin	A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages.	NCIT:C4478|ICD9:215.9|SCTID:254756007|DOID:5769|UMLS:C0346054	mondo.json	cutaneous verruciform xanthoma|verruciform xanthoma (morphologic abnormality)|verruciform xanthoma of the skin|skin verruciform xanthoma|verruciform xanthoma	http://purl.obolibrary.org/obo/MONDO_0003640	UMLS:C0346054|NCIT:C4478|http://identifiers.org/snomedct/254756007|DOID:5769	
MONDO:0015628	biolink:Disease	von Willebrand disease type 2A	Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers.	UMLS:C1282968|NCIT:C131686|Orphanet:166084|SCTID:359714009	mondo.json	von Willebrand disease, type 2A	http://purl.obolibrary.org/obo/MONDO_0015628	http://identifiers.org/snomedct/359714009|UMLS:C1282968|NCIT:C131686|Orphanet:166084	ordo_clinical_subtype
MONDO:0015634	biolink:Disease	isolated osteopoikilosis	A osteopoikilosis (disease) that is not part of a larger syndrome.	Orphanet:166119	mondo.json	isolated osteopoikilosis (disease)|nonsyndromic osteopoikilosis (disease)	http://purl.obolibrary.org/obo/MONDO_0015634	Orphanet:166119	ordo_disease
MONDO:0015633	biolink:Disease	obsolete Bazex syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015633		
MONDO:0015632	biolink:Disease	FASTKD2-related infantile mitochondrial encephalomyopathy		Orphanet:166105	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015632	Orphanet:166105	ordo_disease
MONDO:0015631	biolink:Disease	von Willebrand disease type 2N	Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII).	NCIT:C131689|UMLS:C1282975|SCTID:359732009|Orphanet:166093	mondo.json	von Willebrand disease Normandy variant|von Willebrand disease, type 2N	http://purl.obolibrary.org/obo/MONDO_0015631	UMLS:C1282975|NCIT:C131689|Orphanet:166093|http://identifiers.org/snomedct/359732009	ordo_clinical_subtype
MONDO:0015638	biolink:Disease	benign partial epilepsy of infancy with complex partial seizures	Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal.	Orphanet:166299|UMLS:CN226717	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015638	UMLS:CN226717|Orphanet:166299	ordo_disease
MONDO:0015637	biolink:Disease	benign non-familial infantile seizures		Orphanet:166295|UMLS:CN226716	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015637	UMLS:CN226716|Orphanet:166295	ordo_group_of_disorders|disease_grouping
MONDO:0015636	biolink:Disease	dirofilariasis	Infection with nematodes of the genus dirofilaria, usually in animals, especially dogs, but occasionally in humans.	EFO:0007239|GARD:0011908|DOID:1082|SCTID:73328005|ICD9:125.6|Orphanet:166291|MESH:D004184|UMLS:C0012602	mondo.json	Dirofilaria infectious disease|infection by Dirofilaria|Dirofilaria disease or disorder|Dirofilaria caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0015636	UMLS:C0012602|DOID:1082|http://identifiers.org/mesh/D004184|Orphanet:166291|http://identifiers.org/snomedct/73328005	ordo_disease|gard_rare
MONDO:0015635	biolink:Disease	porokeratotic eccrine ostial and dermal duct nevus	A rare, congenital disorder of the eccrine sweat ducts that presents as grouped keratotic papules and plaques with a linear distribution and/or multiple punctate pits filled with tiny keratotic plugs resembling comedones. The lesion are usually located on the acral portion of a limb.	UMLS:C0473579|Orphanet:166286|SCTID:239118007|NCIT:C4740	mondo.json	Porokeratotic eccrine nevus|Porokeratotic eccrine duct and hair follicle Nevus|linear eccrine Nevus with comedones|comedo nevus of the palm	http://purl.obolibrary.org/obo/MONDO_0015635	UMLS:C0473579|NCIT:C4740|Orphanet:166286|http://identifiers.org/snomedct/239118007	ordo_disease
MONDO:0015630	biolink:Disease	von Willebrand disease type 2M	A subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers.	SCTID:359725000|UMLS:C1282974|NCIT:C131688|Orphanet:166090|SCTID:359729006	mondo.json	von Willebrand disease, type 2M	http://purl.obolibrary.org/obo/MONDO_0015630	UMLS:C1282974|NCIT:C131688|Orphanet:166090|http://identifiers.org/snomedct/359729006|http://identifiers.org/snomedct/359725000	ordo_clinical_subtype
MONDO:0003638	biolink:Disease	lung meningioma	A primary or metastatic meningioma that is present in the lung. The lung is the most frequent site of metastasis of meningiomas.	DOID:5764|NCIT:C5668|UMLS:C1334450	mondo.json	lung primary meningioma|lung meningioma (disease)|primary pulmonary meningioma|lung meningioma|meningioma of lung|meningioma (disease) of lung|meningioma of the lung|pulmonary meningioma	http://purl.obolibrary.org/obo/MONDO_0003638	DOID:5764|NCIT:C5668|UMLS:C1334450	
MONDO:0003639	biolink:Disease	lung hilum neoplasm	A benign or malignant neoplasm that arises from the hilar region of the lung.	SCTID:126707007|DOID:5767|UMLS:C1290358|NCIT:C5671	mondo.json	hilar lung tumor|lung hilum tumor|lung hilum neoplasm|neoplasm of hilus of lung|hilar lung neoplasm|neoplasm of lung hilus|lung hilus tumor|lung hilus neoplasm|lung hilus neoplasm (disease)|tumor of lung hilus	http://purl.obolibrary.org/obo/MONDO_0003639	DOID:5767|http://identifiers.org/snomedct/126707007|NCIT:C5671|UMLS:C1290358	
HGNC:7067	biolink:NamedThing	CIITA			mondo.json		http://identifiers.org/hgnc/7067		
HGNC:12472	biolink:NamedThing	UBE2A			mondo.json		http://identifiers.org/hgnc/12472		
MONDO:0003656	biolink:Disease	hemoglobinuria	A laboratory test result which indicates free hemoglobin in the urine.	ICD9:791.2|ICD10CM:R82.3|MESH:D006456|UMLS:C0019048|DOID:582	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003656	UMLS:C0019048|http://identifiers.org/mesh/D006456|http://purl.bioontology.org/ontology/ICD10CM/R82.3|DOID:582	
MONDO:0003657	biolink:Disease	obsolete methotrexate-associated lymphoproliferation			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003657		
MONDO:0003658	biolink:Disease	B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma	A group of lymphomas displaying molecular, morphologic, immunophenotypic, and clinical overlap between classical Hodgkin lymphoma and diffuse large B-cell lymphoma. This term particularly applies to mediastinal lymphomas with overlapping features of mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma.	NCIT:C37869|UMLS:C1333878|ICDO:9596/3|GARD:0010897|DOID:5822	mondo.json	large B-cell lymphoma with Hodgkin features|B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma|Hodgkin-like anaplastic large cell lymphoma|Gray zone lymphoma|B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0003658	DOID:5822|NCIT:C37869|UMLS:C1333878	gard_rare
MONDO:0003659	biolink:Disease	pediatric lymphoma	A Hodgkin or non-Hodgkin lymphoma that occurs during childhood.	NCIT:C5165|UMLS:C1332979|DOID:5823	mondo.json	lymphoma|pediatric lymphoma|childhood lymphoma	http://purl.obolibrary.org/obo/MONDO_0003659	DOID:5823|UMLS:C1332979|NCIT:C5165	
ENVO:00000176	biolink:NamedThing	elevation	A landform elevated above the surrounding area.		mondo.json		http://purl.obolibrary.org/obo/ENVO_00000176		
MONDO:0003652	biolink:Disease	acute urate nephropathy	Urolithiasis in which the composition of the stones is predominantly urate.	UMLS:C0341712|ICD9:583.9|DOID:580|ICD9:274.11|SCTID:236496000|UMLS:C0403719|NCIT:C123037	mondo.json	uric acid urolithiasis|uric acid nephrolithiasis	http://purl.obolibrary.org/obo/MONDO_0003652	UMLS:C0403719|UMLS:C0341712|NCIT:C123037|http://identifiers.org/snomedct/236496000|DOID:580	
NCBITaxon:11577	biolink:OrganismalEntity	La Crosse virus		GC_ID:1	mondo.json	Bunyavirus la crosse	http://purl.obolibrary.org/obo/NCBITaxon_11577		
UBERON:0012251	biolink:AnatomicalEntity	ectocervical epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012251		
MONDO:0003653	biolink:Disease	stork bite		DOID:5806|SCTID:254211001	mondo.json	Salmon patch nevus|Unna's nevus	http://purl.obolibrary.org/obo/MONDO_0003653	http://identifiers.org/snomedct/254211001|DOID:5806	
UBERON:0012250	biolink:AnatomicalEntity	cervix glandular epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012250		
MONDO:0003654	biolink:Disease	childhood parosteal osteosarcoma	A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. The prognosis is usually excellent.	DOID:5809|NCIT:C6589|UMLS:C1332994	mondo.json	childhood parosteal osteosarcoma|childhood parosteal osteogenic sarcoma	http://purl.obolibrary.org/obo/MONDO_0003654	NCIT:C6589|DOID:5809|UMLS:C1332994	
UBERON:0036286	biolink:AnatomicalEntity	wall of right ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036286		
MONDO:0003655	biolink:Disease	cerebral lymphoma	A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion.	NCIT:C7611|DOID:5815|UMLS:C0240803|SCTID:276836002	mondo.json	primary lymphoma of cerebrum|brain primary lymphoma|primary lymphoma of the cerebrum|primary cerebral lymphoma|cerebral lymphoma|primary lymphoma, brain	http://purl.obolibrary.org/obo/MONDO_0003655	UMLS:C0240803|NCIT:C7611|http://identifiers.org/snomedct/276836002|DOID:5815	
UBERON:0036285	biolink:AnatomicalEntity	wall of left ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036285		
UBERON:0036288	biolink:AnatomicalEntity	anterior wall of left ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036288		
MONDO:0015619	biolink:Disease	non-syndromic urogenital tract malformation	A urogenital tract malformation that is not part of a larger syndrome.	Orphanet:165704	mondo.json	nonsyndromic urogenital tract malformation|isolated urogenital tract malformation	http://purl.obolibrary.org/obo/MONDO_0015619	Orphanet:165704	disease_grouping|ordo_group_of_disorders
UBERON:0012254	biolink:AnatomicalEntity	abdominal aorta artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012254		
MONDO:0015618	biolink:Disease	obsolete genetic pancreatic disease		Orphanet:165661|UMLS:CN199994	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015618	Orphanet:165661|UMLS:CN199994	ordo_group_of_disorders|disease_grouping
MONDO:0003650	biolink:Disease	mixed hepatoblastoma	A hepatoblastoma characterized by the presence of fetal and embryonal epithelial components and a mesenchymal component.	ICDO:8970/3|UMLS:C1334784|NCIT:C7097|DOID:5789	mondo.json	mixed epithelial and mesenchymal hepatoblastoma	http://purl.obolibrary.org/obo/MONDO_0003650	UMLS:C1334784|DOID:5789|NCIT:C7097	
UBERON:0012253	biolink:AnatomicalEntity	cervical squamo-columnar junction			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012253		
MONDO:0003651	biolink:Disease	macrotrabecular hepatoblastoma	A pure fetal or fetal and embryonal epithelial hepatoblastoma characterized by the presence of broad trabeculae.	NCIT:C7095|UMLS:C1334543|DOID:5798	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003651	UMLS:C1334543|DOID:5798|NCIT:C7095	
MONDO:0015617	biolink:Disease	genetic gastro-esophageal disease		UMLS:CN199993|Orphanet:165658	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015617	Orphanet:165658|UMLS:CN199993	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
GO:1902600	biolink:NamedThing	proton transmembrane transport	The directed movement of a proton across a membrane.		mondo.json	ATP hydrolysis coupled proton transport|hydrogen transport|hydrogen ion transport|hydrogen ion transmembrane transport|passive proton transport, down the electrochemical gradient|hydrogen transmembrane transport|proton transport	http://purl.obolibrary.org/obo/GO_1902600		
UBERON:0012252	biolink:AnatomicalEntity	endocervical epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012252		
UBERON:0036289	biolink:AnatomicalEntity	anterior wall of right ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036289		
HGNC:24464	biolink:NamedThing	CHST14			mondo.json		http://identifiers.org/hgnc/24464		
MONDO:0015623	biolink:Disease	cavitary myiasis	Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis.	SCTID:764811001|Orphanet:165958	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015623	Orphanet:165958|http://identifiers.org/snomedct/764811001	ordo_disease
MONDO:0015622	biolink:Disease	wound myiasis		ICD10CM:B87.1|UMLS:C0344061|ICD9:998.89|Orphanet:165955|SCTID:240880004	mondo.json	traumatic myiasis	http://purl.obolibrary.org/obo/MONDO_0015622	Orphanet:165955|http://purl.bioontology.org/ontology/ICD10CM/B87.1|http://identifiers.org/snomedct/240880004|UMLS:C0344061	ordo_disease
MONDO:0015621	biolink:Disease	obsolete rare abdominal surgical disease		UMLS:CN199996|Orphanet:165711	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015621	UMLS:CN199996|Orphanet:165711	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0015620	biolink:Disease	syndromic urogenital tract malformation	A urogenital tract malformation that is part of a larger syndrome.	Orphanet:165707|UMLS:CN226715	mondo.json	syndrome associated with urogenital tract malformation|syndromic urogenital tract malformation	http://purl.obolibrary.org/obo/MONDO_0015620	Orphanet:165707|UMLS:CN226715	ordo_group_of_disorders|disease_grouping
UBERON:0012249	biolink:AnatomicalEntity	ectocervix			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012249		
MONDO:0015627	biolink:Disease	multiple epiphyseal dysplasia due to collagen 9 anomaly	Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.	SCTID:766717008|Orphanet:166002|DOID:0070305|ICD10CM:Q77.3	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015627	http://identifiers.org/snomedct/766717008|Orphanet:166002|DOID:0070305	ordo_disease
MONDO:0015626	biolink:Disease	Charcot-Marie-Tooth disease	An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.	ICD9:356.1|UMLS:C0007959|DOID:10595|Orphanet:166|GARD:0006034|MESH:D002607|NCIT:C75467|OMIMPS:118220|MedDRA:10034699	mondo.json	CMT|Charcot Marie Tooth muscular atrophy|CMT - Charcot-Marie-Tooth disease|peroneal muscular atrophy|Charcot Marie Tooth disease|Charcot-Marie-Tooth hereditary neuropathy|hereditary motor and sensory neuropathy|Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy|Charcot-Marie-Tooth disease|CMT/HMSN|hereditary sensorimotor neuropathy	http://purl.obolibrary.org/obo/MONDO_0015626	https://omim.org/phenotypicSeries/PS118220|Orphanet:166|NCIT:C75467|UMLS:C0007959|DOID:10595|http://identifiers.org/mesh/D002607	disease_grouping|ordo_group_of_disorders
MONDO:0015625	biolink:Disease	diazoxide-resistant diffuse hyperinsulinism	Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy.	Orphanet:165988	mondo.json	hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form	http://purl.obolibrary.org/obo/MONDO_0015625	Orphanet:165988	disease_grouping|ordo_group_of_disorders
MONDO:0015624	biolink:Disease	diazoxide-sensitive diffuse hyperinsulinism		Orphanet:165985	mondo.json	hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form	http://purl.obolibrary.org/obo/MONDO_0015624	Orphanet:165985	ordo_group_of_disorders|disease_grouping
MONDO:0003649	biolink:Disease	esophageal neuroendocrine tumor	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the esophagus.	UMLS:C1333462|UMLS:C2987260|DOID:5784|Orphanet:506136|NCIT:C95616	mondo.json	esophagus neuroendocrine tumor|esophagus NET|esophageal NEN|esophageal well differentiated endocrine tumor|esophageal well differentiated endocrine tumor/carcinoma|esophageal neuroendocrine tumor|esophageal neuroendocrine neoplasm|esophageal NET|neuroendocrine neoplasm of esophagus|esophagus neuroendocrine tumor, well differentiated, low or intermediate grade|esophagus neuroendocrine neoplasm|neuroendocrine tumor of esophagus|NEN of esophagus	http://purl.obolibrary.org/obo/MONDO_0003649	DOID:5784|UMLS:C2987260|Orphanet:506136|NCIT:C95616|UMLS:C1333462	ordo_disease
NCBITaxon:11572	biolink:OrganismalEntity	Orthobunyavirus		GC_ID:1	mondo.json	Bunyavirus|Bunyaviruses	http://purl.obolibrary.org/obo/NCBITaxon_11572		
MONDO:0001048	biolink:Disease	orbital granuloma	A granuloma located on the orbit of the eye.	UMLS:C0155262|ICD9:376.11|SCTID:72776003|DOID:10499	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001048	DOID:10499|http://identifiers.org/snomedct/72776003|UMLS:C0155262	
GO:0050863	biolink:NamedThing	regulation of T cell activation	Any process that modulates the frequency, rate or extent of T cell activation.		mondo.json	regulation of T-cell activation|regulation of T-lymphocyte activation|regulation of T lymphocyte activation	http://purl.obolibrary.org/obo/GO_0050863		
MONDO:0001047	biolink:Disease	obsolete adrenal cortical hypofunction			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001047		
MONDO:0027676	biolink:Disease	congenital anomalies of kidney and urinary tract 2	Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene.	OMIM:143400|Orphanet:2190|DOID:0080207	mondo.json	congenital anomaly of kidney and urinary tract caused by mutation in TBX18|ureteropelvic junction obstruction|hydronephrosis due to Pujo|congenital anomalies of kidney and urinary tract 2|congenital anomalies of kidney and urinary tract type 2|multicystic renal dysplasia, bilateral|pelviureteric junction obstruction|TBX18 congenital anomaly of kidney and urinary tract|CAKUT2	http://purl.obolibrary.org/obo/MONDO_0027676	DOID:0080207|https://omim.org/entry/143400	
MONDO:0001046	biolink:Disease	imperforate anus	A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities.	SCTID:204731006|MESH:D001006|OMIM:301800|GARD:0006769|OMIM:207500|DOID:10488|NCIT:C84784	mondo.json	imperforate anus|anal stenosis|anus, imperforate|anorectal malformations|congenital atresia of anus|congenital or infantile occlusion of anus|anal atresia	http://purl.obolibrary.org/obo/MONDO_0001046	NCIT:C84784|http://identifiers.org/mesh/D001006|https://omim.org/entry/207500|https://omim.org/entry/301800|DOID:10488|http://identifiers.org/snomedct/204731006	
NCBITaxon:482538	biolink:OrganismalEntity	Cystoisospora belli		GC_ID:1	mondo.json	Isospora belli	http://purl.obolibrary.org/obo/NCBITaxon_482538		
MONDO:0001045	biolink:Disease	intestinal atresia	A congenital malformation characterized by the absence of a normal opening in a part of the intestine. It can occur either in the small or the large intestine.	NCIT:C84790|UMLS:C0021828|MESH:D007409|HP:0011100|DOID:10486	mondo.json	atresia of the intestine|intestinal atresia|intestinal atresia (disease)|congenital intestinal atresia	http://purl.obolibrary.org/obo/MONDO_0001045	NCIT:C84790|UMLS:C0021828|http://identifiers.org/mesh/D007409|DOID:10486	
MONDO:0027677	biolink:Disease	isoniazid toxicity		Orphanet:240887	mondo.json		http://purl.obolibrary.org/obo/MONDO_0027677	Orphanet:240887	ordo_disorder
GO:0050866	biolink:NamedThing	negative regulation of cell activation	Any process that stops, prevents, or reduces the frequency, rate or extent of cell activation.		mondo.json	down-regulation of cell activation|down regulation of cell activation|inhibition of cell activation|downregulation of cell activation	http://purl.obolibrary.org/obo/GO_0050866		
GO:0050867	biolink:NamedThing	positive regulation of cell activation	Any process that activates or increases the frequency, rate or extent of activation.		mondo.json	activation of cell activation|stimulation of cell activation|upregulation of cell activation|up-regulation of cell activation|up regulation of cell activation	http://purl.obolibrary.org/obo/GO_0050867		
GO:0050864	biolink:NamedThing	regulation of B cell activation	Any process that modulates the frequency, rate or extent of B cell activation.		mondo.json	regulation of B lymphocyte activation|regulation of B-cell activation|regulation of B-lymphocyte activation	http://purl.obolibrary.org/obo/GO_0050864		
MONDO:0001049	biolink:Disease	Dressler syndrome	A pericarditis characterized by inflammation, occurring after injury, located in pericardium.	UMLS:C0152107|DOID:10507|SCTID:66189004|ICD9:411.0|ICD10CM:I24.1	mondo.json	Dressler syndrome|Dressler's syndrome|postmyocardial infarction syndrome	http://purl.obolibrary.org/obo/MONDO_0001049	DOID:10507|UMLS:C0152107|http://purl.bioontology.org/ontology/ICD10CM/I24.1|http://identifiers.org/snomedct/66189004	
GO:0050865	biolink:NamedThing	regulation of cell activation	Any process that modulates the frequency, rate or extent of cell activation, the change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand.		mondo.json		http://purl.obolibrary.org/obo/GO_0050865		
MONDO:0001040	biolink:Disease	nasopharyngitis	An inflammatory process that affects the nasopharynx.	SCTID:47841006|MESH:D009304|UMLS:C0155826|UMLS:C0027441|NCIT:C34837|ICD9:472.2|DOID:10460	mondo.json	nasopharynx inflammation|inflammation of nasopharynx|chronic nasopharyngitis	http://purl.obolibrary.org/obo/MONDO_0001040	UMLS:C0027441|http://identifiers.org/snomedct/47841006|http://identifiers.org/mesh/D009304|NCIT:C34837|UMLS:C0155826|DOID:10460	
GO:0050868	biolink:NamedThing	negative regulation of T cell activation	Any process that stops, prevents, or reduces the frequency, rate or extent of T cell activation.		mondo.json	down-regulation of T cell activation|down regulation of T cell activation|inhibition of T cell activation|downregulation of T cell activation|negative regulation of T-lymphocyte activation|negative regulation of T lymphocyte activation|negative regulation of T-cell activation	http://purl.obolibrary.org/obo/GO_0050868		
GO:0050869	biolink:NamedThing	negative regulation of B cell activation	Any process that stops, prevents, or reduces the frequency, rate or extent of B cell activation.		mondo.json	negative regulation of B-cell activation|down-regulation of B cell activation|down regulation of B cell activation|downregulation of B cell activation|inhibition of B cell activation|negative regulation of B-lymphocyte activation|negative regulation of B lymphocyte activation	http://purl.obolibrary.org/obo/GO_0050869		
MONDO:0001044	biolink:Disease	esophageal atresia	A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed.	SCTID:26179002|HP:0002032|MESH:D004933|ICD9:750.3|GARD:0006381|NCIT:C87072|DOID:10485	mondo.json	imperforate esophagus|congenital esophageal atresia|congenital atresia of esophagus|esophageal atresia|esophageal atresia (disease)|oesophageal atresia|congenital imperforate esophagus	http://purl.obolibrary.org/obo/MONDO_0001044	http://identifiers.org/mesh/D004933|NCIT:C87072|http://identifiers.org/snomedct/26179002|DOID:10485	
HGNC:24431	biolink:NamedThing	KRT75			mondo.json		http://identifiers.org/hgnc/24431		
UBERON:0036215	biolink:AnatomicalEntity	anatomical surface region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036215		
UBERON:0036214	biolink:AnatomicalEntity	rectosigmoid junction			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036214		
MONDO:0027675	biolink:Disease	irinotecan toxicity		Orphanet:240885	mondo.json		http://purl.obolibrary.org/obo/MONDO_0027675	Orphanet:240885	ordo_disorder
MONDO:0001043	biolink:Disease	obsolete diaphragm disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001043		
MONDO:0001042	biolink:Disease	patellar tendinitis	A tendinitis that involves the patella.	DOID:10471|UMLS:C0158317|ICD10CM:M76.5|SCTID:37785001|ICD9:726.64	mondo.json	tendinitis of patella|patellar tendonitis|patella tendinitis	http://purl.obolibrary.org/obo/MONDO_0001042	http://identifiers.org/snomedct/37785001|UMLS:C0158317|http://purl.bioontology.org/ontology/ICD10CM/M76.5|DOID:10471	
MONDO:0025013	biolink:Disease	non-human primate disease	Diseases of animals within the order primates. This term includes diseases of Haplorhini and Strepsirhini.	MESH:D018419|UMLS:C0242634	mondo.json	diseases, Primate|disease, Primate|Primate disease	http://purl.obolibrary.org/obo/MONDO_0025013	UMLS:C0242634|http://identifiers.org/mesh/D018419	
UBERON:0036217	biolink:AnatomicalEntity	coelomic fluid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036217		
MONDO:0001041	biolink:Disease	dentin caries	A dental caries that involves the dentine.	ICD9:521.02|SCTID:442551007|DOID:10461|UMLS:C0266846	mondo.json	compound dental caries|dental caries of dentine|dentine dental caries|dental caries extending into dentine	http://purl.obolibrary.org/obo/MONDO_0001041	UMLS:C0266846|http://identifiers.org/snomedct/442551007|DOID:10461	
MONDO:0013037	biolink:Disease	Giacheti syndrome		MESH:C567864|UMLS:C2752043|OMIM:612917	mondo.json	Marfanoid habitus and specific language and learning disabilities|Giacheti syndrome	http://purl.obolibrary.org/obo/MONDO_0013037	https://omim.org/entry/612917|http://identifiers.org/mesh/C567864|UMLS:C2752043	
CL:0002584	biolink:Cell	renal cortical epithelial cell	An epithelial cell of the kidney cortex.	KUPO:0001016	mondo.json		http://purl.obolibrary.org/obo/CL_0002584		
MONDO:0015699	biolink:Disease	immunodeficiency due to a classical component pathway complement deficiency		Orphanet:169147	mondo.json	immunodeficiency due to a C1, C4, or C2 component complement deficiency|immunodeficiency due to C1, C4, or C2 component complement deficiency|immunodeficiency due to an early component of complement deficiency	http://purl.obolibrary.org/obo/MONDO_0015699	Orphanet:169147	ordo_disease|clingen
MONDO:0013038	biolink:Disease	CLOVES syndrome	A syndromic disease characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.	SCTID:719475006|GARD:10939|MESH:C567863|DOID:0080351|GARD:0010939|OMIM:612918|Orphanet:140944|UMLS:C2752042	mondo.json	congenital lipomatous overgrowth, vascular malformations, and epidermal nevi|CLOVE syndrome, somatic|congenital lipomatous overgrowth, vascular malformations, Epidermal nevi, and skeletal/spinal abnormalities|congenital lipomatous overgrowth, vascular malformations, and EPIDERMAL nevi|CLOVES syndrome|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome|congenital lipomatous overgrowth - vascular malformation - epidermal nevi|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome|CLOVE syndrome	http://purl.obolibrary.org/obo/MONDO_0013038	http://identifiers.org/snomedct/719475006|https://omim.org/entry/612918|DOID:0080351|Orphanet:140944|http://identifiers.org/mesh/C567863|UMLS:C2752042	ordo_malformation_syndrome
MONDO:0013035	biolink:Disease	orofaciodigital syndrome XI	Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.	OMIM:612913|GARD:0004118|SCTID:718681002|MESH:C557821|Orphanet:141000|DOID:0060381	mondo.json	orofaciodigital syndrome XI|OFD11|oral-facial-digital syndrome, Gabrielli type|OFD syndrome 11|orofaciodigital syndrome, Gabrielli type|oral-Facial-digital syndrome with skeletal anomalies|orofaciodigital syndrome type XI|Gabrielli syndrome|oral-facial-digital syndrome type 11|orofaciodigital syndrome 11|oral facial digital syndrome 11|Ofds 11|orofaciodigital syndrome type 11|oral-Facial-digital syndrome, type 11|oral facial digital syndrome type 11	http://purl.obolibrary.org/obo/MONDO_0013035	http://identifiers.org/mesh/C557821|https://omim.org/entry/612913|http://identifiers.org/snomedct/718681002|DOID:0060381|Orphanet:141000	gard_rare|ordo_malformation_syndrome
CL:0002586	biolink:Cell	retinal pigment epithelial cell	An epithelial cell of the retinal pigmented epithelium.	BTO:0004910|FMA:75802	mondo.json		http://purl.obolibrary.org/obo/CL_0002586		
MONDO:0015698	biolink:Disease	transient hypogammaglobulinemia of infancy	A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span.	ICD9:279.09|MedDRA:10044388|Orphanet:169139|UMLS:C0272238|DOID:624|NCIT:C27071|ICD10CM:D80.7|SCTID:88714009	mondo.json	THI|transient hypogammaglobulinemia of infancy	http://purl.obolibrary.org/obo/MONDO_0015698	DOID:624|NCIT:C27071|Orphanet:169139|http://identifiers.org/snomedct/88714009|http://purl.bioontology.org/ontology/ICD10CM/D80.7|UMLS:C0272238	ordo_disease
MONDO:0013036	biolink:Disease	Zechi-Ceide syndrome		MESH:C567865|UMLS:C2752047|Orphanet:217017|GARD:0010582|OMIM:612916	mondo.json	occipital atretic cephalocele, unusual facies and large feet|occipital atretic cephalocele, unusual facies, and large feet|Zechi-Ceide syndrome|Zechi Ceide syndrome|occipital atretic cephalocele-unusual facies-large feet syndrome	http://purl.obolibrary.org/obo/MONDO_0013036	https://omim.org/entry/612916|http://identifiers.org/mesh/C567865|UMLS:C2752047|Orphanet:217017	gard_rare|ordo_malformation_syndrome
CL:0002585	biolink:Cell	retinal blood vessel endothelial cell	A blood vessel endothelial cell that is part of the retina.		mondo.json		http://purl.obolibrary.org/obo/CL_0002585		
MONDO:0015697	biolink:Disease	immunoglobulin heavy chain deficiency		UMLS:C0398692|ICD9:279.03|SCTID:234539005|Orphanet:169110	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015697	UMLS:C0398692|Orphanet:169110|http://identifiers.org/snomedct/234539005	ordo_disease
GO:2001233	biolink:NamedThing	regulation of apoptotic signaling pathway	Any process that modulates the frequency, rate or extent of apoptotic signaling pathway.		mondo.json	regulation of apoptotic signalling pathway	http://purl.obolibrary.org/obo/GO_2001233		
GO:2001234	biolink:NamedThing	negative regulation of apoptotic signaling pathway	Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic signaling pathway.		mondo.json	negative regulation of apoptotic signalling pathway	http://purl.obolibrary.org/obo/GO_2001234		
MONDO:0013039	biolink:Disease	3M syndrome 2	Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene.	OMIM:612921|UMLS:C2752041|MESH:C567862	mondo.json	OBSL1 3-M syndrome|3M2|three M syndrome type 2|3M syndrome 2|3-M syndrome 2|three M syndrome 2|3-M syndrome caused by mutation in OBSL1	http://purl.obolibrary.org/obo/MONDO_0013039	https://omim.org/entry/612921|http://identifiers.org/mesh/C567862|UMLS:C2752041	
GO:2001235	biolink:NamedThing	positive regulation of apoptotic signaling pathway	Any process that activates or increases the frequency, rate or extent of apoptotic signaling pathway.		mondo.json	positive regulation of apoptotic signalling pathway	http://purl.obolibrary.org/obo/GO_2001235		
NCBITaxon:47570	biolink:OrganismalEntity	Schizotrypanum		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_47570		
CL:0002589	biolink:Cell	smooth muscle cell of the brachiocephalic vasculature	A smooth muscle cell of the bachiocephalic vasculature.		mondo.json		http://purl.obolibrary.org/obo/CL_0002589		
MONDO:0015692	biolink:Disease	refractory anemia with excess blasts in transformation	Refractory anemia with excess blasts in transformation (RAEB-T) is characterised by dysplastic features of the myeloid and usually erythroid progenitor cells in the bone marrow and an increased number of myeloblasts in the peripheral blood. The peripheral blood blast count ranges from 20% to 30%. RAEB-T used to be a subcategory of myelodysplastic syndromes in the past. Recently, the term has been eliminated from the WHO based classification of myelodysplastic syndromes. The reason is that the percentage of peripheral blood blasts required for the diagnosis of acute myeloid leukemia has been reduced to 20%. The elimination of the RAEB-T term by the WHO experts has created confusion and ongoing arguments. Currently, according to WHO classification, the vast majority of RAEB-T cases are best classified as acute leukemias (acute leukemias with multilineage dysplasia following myelodysplastic syndrome). A minority of cases are part of RAEB-2.	UMLS:C0280028|UMLS:CN200189|ICDO:9984/3|Orphanet:168960|MedDRA:10038271|UMLS:C0002894|NCIT:C27080|SCTID:110000005|ICD9:238.73	mondo.json	RAEB-t	http://purl.obolibrary.org/obo/MONDO_0015692	UMLS:CN200189|UMLS:C0280028|NCIT:C27080|http://identifiers.org/snomedct/110000005|Orphanet:168960	ordo_disease
MONDO:0015691	biolink:Disease	hypereosinophilic syndrome	Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage.	ICDO:9964/3|UMLS:C1540912|NCIT:C27038|DOID:999|MedDRA:10048643|SCTID:419455006|MESH:D017681|ICD9:288.3|GARD:0002804|Orphanet:168956|EFO:1001467	mondo.json	hypereosinophilic disorder|hypereosinophilic disease|eosinophilia|HES|hypereosinophilic syndrome|eosinophilic leukocytosis	http://purl.obolibrary.org/obo/MONDO_0015691	DOID:999|NCIT:C27038|http://identifiers.org/snomedct/419455006|UMLS:C1540912|http://identifiers.org/mesh/D017681|Orphanet:168956	disease_grouping|ordo_group_of_disorders
MONDO:0013030	biolink:Disease	dilated cardiomyopathy 1BB	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.	MESH:C567877|UMLS:C2752072|DOID:0110458|OMIM:612877	mondo.json	cardiomyopathy, dilated, type 1Bb|CMD1BB|familial isolated dilated cardiomyopathy caused by mutation in DSG2|cardiomyopathy, dilated, 1BB|dilated cardiomyopathy type 1BB|DSG2 familial isolated dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0013030	http://identifiers.org/mesh/C567877|UMLS:C2752072|DOID:0110458|https://omim.org/entry/612877	
GO:0098805	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0098805		
MONDO:0015690	biolink:Disease	myeloid neoplasm associated with PDGFRB rearrangement	A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss.	DOID:0080166|ICDO:9966/3|Orphanet:168950|SCTID:724642009|NCIT:C84276|ONCOTREE:MLNPDGFRB|UMLS:C2827361	mondo.json	myeloid/lymphoid neoplasms with PDGFRB rearrangement|myeloid neoplasms with PDGFRB rearrangement|myeloid neoplasms associated with PDGFRB rearrangement|myeloid and lymphoid neoplasms with PDGFRB rearrangement|myeloid/lymphoid neoplasm associated with PDGFRB rearrangement	http://purl.obolibrary.org/obo/MONDO_0015690	UMLS:C2827361|NCIT:C84276|Orphanet:168950|http://identifiers.org/snomedct/724642009|DOID:0080166	ordo_disease
GO:0098802	biolink:NamedThing	plasma membrane signaling receptor complex	Any protein complex that is part of the plasma membrane and which functions as a signaling receptor.		mondo.json		http://purl.obolibrary.org/obo/GO_0098802		
GO:0098803	biolink:NamedThing	respiratory chain complex	Any protein complex that is part of a respiratory chain.		mondo.json		http://purl.obolibrary.org/obo/GO_0098803		
MONDO:0015696	biolink:Disease	Good syndrome	Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections.	DOID:0060028|Orphanet:169105|SCTID:9893005|GARD:0008622|UMLS:C0221027	mondo.json	thymoma with hypogammaglobulinemia|thymoma-immunodeficiency|immunodeficiency with thymoma|thymoma-immunodeficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0015696	UMLS:C0221027|http://identifiers.org/snomedct/9893005|DOID:0060028|Orphanet:169105	ordo_disease
MONDO:0013033	biolink:Disease	cerebral palsy, spastic quadriplegic, 2	Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene.	OMIM:612900|MESH:C567867|UMLS:C2752061	mondo.json	cerebral palsy, spastic quadriplegic, 2|KANK1 spastic quadriplegia|CPSQ2|spastic quadriplegia caused by mutation in KANK1|cerebral palsy, spastic quadriplegic, type 2	http://purl.obolibrary.org/obo/MONDO_0013033	https://omim.org/entry/612900|http://identifiers.org/mesh/C567867|UMLS:C2752061	
GO:0098800	biolink:NamedThing	inner mitochondrial membrane protein complex	Any protein complex that is part of the inner mitochondrial membrane.		mondo.json		http://purl.obolibrary.org/obo/GO_0098800		
MONDO:0015695	biolink:Disease	combined immunodeficiency due to CRAC channel dysfunction	A form of combined immunodeficiency characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency.	Orphanet:169090|SCTID:717811007	mondo.json	immune dysfunction due to T-cell inactivation due to calcium entry defect	http://purl.obolibrary.org/obo/MONDO_0015695	http://identifiers.org/snomedct/717811007|Orphanet:169090	ordo_disease
MONDO:0013034	biolink:Disease	keratosis palmoplantaris striata 2	Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene.	UMLS:C1852127|MESH:C565102|OMIM:612908	mondo.json	striate palmoplantar keratoderma 2|DSP striate palmoplantar keratoderma|keratosis palmoplantaris striata II|keratoderma, palmoplantar, striate form 2|striate palmoplantar keratoderma caused by mutation in DSP|PPKS2|keratosis palmoplantaris striata type 2	http://purl.obolibrary.org/obo/MONDO_0013034	https://omim.org/entry/612908|http://identifiers.org/mesh/C565102|UMLS:C1852127	
GO:0098801	biolink:NamedThing	regulation of renal system process	Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by the renal system.		mondo.json		http://purl.obolibrary.org/obo/GO_0098801		
MONDO:0015694	biolink:Disease	malignant melanoma of the mucosa	A melanoma (disease) that involves the mucosa.	Orphanet:168999|UMLS:CN200193|GARD:0012649	mondo.json	melanoma (disease) of mucosa|mucosa melanoma|mucosa melanoma (disease)	http://purl.obolibrary.org/obo/MONDO_0015694	UMLS:CN200193|Orphanet:168999	ordo_disease
MONDO:0013031	biolink:Disease	chromosome 5Q14.3 deletion syndrome, distal		MESH:C567876|OMIM:612881|UMLS:C2752071	mondo.json	chromosome 5Q14.3 deletion syndrome, distal|periventricular nodular heterotopia 5|heterotopia, periventricular, associated with chromosome 5Q deletion	http://purl.obolibrary.org/obo/MONDO_0013031	http://identifiers.org/mesh/C567876|UMLS:C2752071|https://omim.org/entry/612881	
MONDO:0015693	biolink:Disease	obsolete composite lymphoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015693		
MONDO:0013032	biolink:Disease	epilepsy, idiopathic generalized, susceptibility to, 8	Any generalised epilepsy in which the cause of the disease is a mutation in the CASR gene.	OMIM:612899|DOID:0111322	mondo.json	susceptibility to idiopathic generalized epilepsy 8|epilepsy, idiopathic generalized, susceptibility to, type 8|epilepsy idiopathic generalized, susceptibility to, 8|EIG8|CASR generalised epilepsy|generalised epilepsy caused by mutation in CASR|epilepsy, idiopathic generalized, susceptibility to, 8	http://purl.obolibrary.org/obo/MONDO_0013032	https://omim.org/entry/612899|DOID:0111322	predisposition
HGNC:12450	biolink:NamedThing	TYRP1			mondo.json		http://identifiers.org/hgnc/12450		
MONDO:0001059	biolink:Disease	gastric lymphoma	An extranodal lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.	ICD9:202.83|NCIT:C4636|SCTID:276811008|DOID:10540|UMLS:C0349532	mondo.json	lymphoma of stomach|lymphoma of the stomach|gastric lymphoma|primary gastric lymphoma|stomach lymphoma	http://purl.obolibrary.org/obo/MONDO_0001059	NCIT:C4636|UMLS:C0349532|http://identifiers.org/snomedct/276811008|DOID:10540	
MONDO:0027667	biolink:Disease	efavirenz toxicity		Orphanet:240869	mondo.json		http://purl.obolibrary.org/obo/MONDO_0027667	Orphanet:240869	ordo_disorder
MONDO:0001058	biolink:Disease	obsolete gastric fundus cancer			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001058		
MONDO:0025003	biolink:Disease	goat disease	Diseases of the domestic or wild goat of the genus Capra.	UMLS:C0018018|MESH:D015511	mondo.json	disease, caprine|caprine disease|goat disease|disease, goat|caprine diseases|diseases, goat|diseases, caprine	http://purl.obolibrary.org/obo/MONDO_0025003	http://identifiers.org/mesh/D015511|UMLS:C0018018	
MONDO:0027668	biolink:Disease	flucloxacilline toxicity		Orphanet:240871	mondo.json		http://purl.obolibrary.org/obo/MONDO_0027668	Orphanet:240871	ordo_disorder
MONDO:0001057	biolink:Disease	malignant gastric granular cell tumor	A metastasizing granular cell tumor that arises from the stomach.	NCIT:C5484|DOID:10536|UMLS:C1334585	mondo.json	malignant granular cell neoplasm of stomach|malignant granular cell stomach tumor|malignant gastric granular cell neoplasm|malignant gastric granular cell tumor|malignant granular cell stomach neoplasm|malignant granular cell tumor of the stomach|malignant granular cell tumor of stomach|malignant granular cell neoplasm of the stomach	http://purl.obolibrary.org/obo/MONDO_0001057	UMLS:C1334585|NCIT:C5484|DOID:10536	
GO:0050871	biolink:NamedThing	positive regulation of B cell activation	Any process that activates or increases the frequency, rate or extent of B cell activation.		mondo.json	positive regulation of B-lymphocyte activation|up-regulation of B cell activation|positive regulation of B lymphocyte activation|positive regulation of B-cell activation|up regulation of B cell activation|activation of B cell activation|stimulation of B cell activation|upregulation of B cell activation	http://purl.obolibrary.org/obo/GO_0050871		
MONDO:0027666	biolink:Disease	codeine toxicity		Orphanet:240867	mondo.json		http://purl.obolibrary.org/obo/MONDO_0027666	Orphanet:240867	ordo_disorder
MONDO:0001056	biolink:Disease	gastric cancer	A primary or metastatic malignant neoplasm involving the stomach.	ICD9:151|GARD:0007704|ICD10CM:C16|NCIT:C9331|Orphanet:63443|DOID:10534|ICD9:151.9|ICD9:151.6|ICD9:151.5|OMIM:613659|ICD9:151.4	mondo.json	malignant tumor of body of stomach|malignant tumor of the stomach|gastric neoplasm|malignant tumor of stomach|malignant tumor of lesser curve of stomach|malignant gastric tumor|malignant neoplasm of body of stomach|gastric cancer|gastric cancer risk after h. pylori infection|gastric cancer, intestinal|gastric cancer, somatic|stomach cancer|Ca body - stomach|malignant tumor of greater curve of stomach|ca greater curvature of stomach|Ca lesser curvature - stomach|malignant stomach neoplasm|malignant neoplasm of stomach|malignant gastric neoplasm|malignant neoplasm of the stomach|malignant neoplasm of lesser curve of stomach|cancer of stomach	http://purl.obolibrary.org/obo/MONDO_0001056	NCIT:C9331|http://purl.bioontology.org/ontology/ICD10CM/C16|https://omim.org/entry/613659|DOID:10534	
GO:0050877	biolink:NamedThing	nervous system process	A organ system process carried out by any of the organs or tissues of neurological system.		mondo.json	neurophysiological process|neurological system process|pan-neural process	http://purl.obolibrary.org/obo/GO_0050877		
GO:0050878	biolink:NamedThing	regulation of body fluid levels	Any process that modulates the levels of body fluids.		mondo.json		http://purl.obolibrary.org/obo/GO_0050878		
HGNC:7095	biolink:NamedThing	MID1			mondo.json		http://identifiers.org/hgnc/7095		
MONDO:0001051	biolink:Disease	acute otitis externa	Acute form of otitis externa.	SCTID:30250000|DOID:10518|UMLS:C0149948|ICD9:380.12|MEDGEN:508459	mondo.json	beach ear|acute swimmer's ear|acute otitis externa, diffuse|acute swimmers' ear|acute otitis externa|tank ear|acute bacterial inflammation of external ear|otitis externa, acute	http://purl.obolibrary.org/obo/MONDO_0001051	http://identifiers.org/snomedct/30250000|DOID:10518|UMLS:C0149948	
NCBITaxon:1639	biolink:OrganismalEntity	Listeria monocytogenes		GC_ID:11|PMID:8782698|PMID:1906732|PMID:17773427	mondo.json	Corynebacterium infantisepticum|Bacterium monocytogenes hominis|Listerella hepatolytica|Bacterium monocytogenes|Erysipelothrix monocytogenes|Corynebacterium parvulum	http://purl.obolibrary.org/obo/NCBITaxon_1639		
GO:1902623	biolink:NamedThing	negative regulation of neutrophil migration	Any process that stops, prevents or reduces the frequency, rate or extent of neutrophil migration.		mondo.json	down regulation of neutrophil migration|inhibition of neutrophil migration|down-regulation of neutrophil migration|downregulation of neutrophil migration	http://purl.obolibrary.org/obo/GO_1902623		
MONDO:0001050	biolink:Disease	malignant otitis externa	An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes.	DOID:10516|ICD10CM:H60.2|SCTID:94146005|UMLS:C0155395|ICD9:380.14	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001050	http://purl.bioontology.org/ontology/ICD10CM/H60.2|UMLS:C0155395|DOID:10516|http://identifiers.org/snomedct/94146005	
GO:1902624	biolink:NamedThing	positive regulation of neutrophil migration	Any process that activates or increases the frequency, rate or extent of neutrophil migration.		mondo.json	upregulation of neutrophil migration|up regulation of neutrophil migration|activation of neutrophil migration|up-regulation of neutrophil migration	http://purl.obolibrary.org/obo/GO_1902624		
GO:0050879	biolink:NamedThing	multicellular organismal movement	Any physiological process involved in changing the position of a multicellular organism or an anatomical part of a multicellular organism.		mondo.json		http://purl.obolibrary.org/obo/GO_0050879		
GO:1902622	biolink:NamedThing	regulation of neutrophil migration	Any process that modulates the frequency, rate or extent of neutrophil migration.		mondo.json		http://purl.obolibrary.org/obo/GO_1902622		
MONDO:0001055	biolink:Disease	conjunctival pterygium		DOID:10526	mondo.json	web eye	http://purl.obolibrary.org/obo/MONDO_0001055	DOID:10526	
MONDO:0027664	biolink:Disease	cisplatin toxicity		Orphanet:240863	mondo.json		http://purl.obolibrary.org/obo/MONDO_0027664	Orphanet:240863	ordo_disorder
MONDO:0001054	biolink:Disease	double pterygium		DOID:10525|ICD9:372.44|SCTID:41564009|UMLS:C0155157	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001054	UMLS:C0155157|http://identifiers.org/snomedct/41564009|DOID:10525	
UBERON:0036225	biolink:AnatomicalEntity	respiratory system gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036225		
NCBITaxon:1637	biolink:OrganismalEntity	Listeria		PMID:8782674|PMID:1713054|PMID:15709360|PMID:9226919|PMID:9542083|PMID:1899799|PMID:10408878|PMID:8427807|GC_ID:11	mondo.json	Listerella	http://purl.obolibrary.org/obo/NCBITaxon_1637		
MONDO:0001053	biolink:Disease	acute infection of pinna	An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species.	UMLS:C0155392|DOID:10520|ICD9:380.11|SCTID:56663002	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001053	UMLS:C0155392|DOID:10520|http://identifiers.org/snomedct/56663002	
MONDO:0001052	biolink:Disease	chronic fungal otitis externa	Chronic form of otomycosis.	ICD9:380.15|UMLS:C0155396|SCTID:111898002|DOID:10519	mondo.json	chronic mycotic otitis externa|otomycosis, chronic|chronic otomycosis	http://purl.obolibrary.org/obo/MONDO_0001052	UMLS:C0155396|http://identifiers.org/snomedct/111898002|DOID:10519	
MONDO:0015689	biolink:Disease	myeloid neoplasm associated with PDGFRA rearrangement	A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.	Orphanet:168947|SCTID:738527001|ICDO:9965/3|DOID:0080165|UMLS:C4545381|UMLS:C2827360|ONCOTREE:MLNPDGFRA|NCIT:C84275	mondo.json	myeloid and lymphoid neoplasms with PDGFRA rearrangement|myeloid/lymphoid neoplasms with PDGFRA rearrangement|myeloid/lymphoid neoplasm associated with PDGFRA rearrangement|myeloid and lymphoid neoplasms associated with PDGFRA rearrangement	http://purl.obolibrary.org/obo/MONDO_0015689	Orphanet:168947|http://identifiers.org/snomedct/738527001|UMLS:C4545381|DOID:0080165|UMLS:C2827360|NCIT:C84275	ordo_disease
MONDO:0013026	biolink:Disease	subepithelial mucinous corneal dystrophy	Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision.	OMIM:612867|MESH:C567547|DOID:0060454|Orphanet:98959|UMLS:C2748503|SCTID:723582004	mondo.json	SMCD|subepithelial mucinous corneal dystrophy|corneal dystrophy, subepithelial mucinous	http://purl.obolibrary.org/obo/MONDO_0013026	http://identifiers.org/snomedct/723582004|https://omim.org/entry/612867|http://identifiers.org/mesh/C567547|Orphanet:98959|UMLS:C2748503|DOID:0060454	ordo_disease
CL:0002595	biolink:Cell	smooth muscle cell of the subclavian artery	A smooth muscle cell of the subclavian artery.		mondo.json		http://purl.obolibrary.org/obo/CL_0002595		
MONDO:0013027	biolink:Disease	posterior amorphous corneal dystrophy	Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.	UMLS:C2748502|OMIM:612868|MESH:C567546|Orphanet:98971|SCTID:719296002|DOID:0060452	mondo.json	corneal dystrophy, POSTERIOR amorphous|PACD|posterior amorphous corneal dystrophy|posterior amorphous stromal dystrophy|chromosome 12Q21.33 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013027	https://omim.org/entry/612868|http://identifiers.org/mesh/C567546|Orphanet:98971|UMLS:C2748502|DOID:0060452|http://identifiers.org/snomedct/719296002	ordo_disease
MONDO:0015688	biolink:Disease	myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2		Orphanet:168943|NCIT:C84270|DOID:0080164|UMLS:C2827356	mondo.json	myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2|myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2|myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1|myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1|myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2|myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement|myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms	http://purl.obolibrary.org/obo/MONDO_0015688	Orphanet:168943|DOID:0080164|UMLS:C2827356|NCIT:C84270	disease_grouping|ordo_group_of_disorders
CL:0002594	biolink:Cell	smooth muscle cell of the umbilical artery	A smooth muscle cell of the umbilical artery.		mondo.json		http://purl.obolibrary.org/obo/CL_0002594		
MONDO:0013024	biolink:Disease	chronic thromboembolic pulmonary hypertension	Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure.	Orphanet:70591|OMIM:612862|ICD9:415.19|ICD9:416.8|GARD:0013124|SCTID:233947005|UMLS:C2363973|MedDRA:10068739	mondo.json	CTEPH|Cteph, Dvt-negative, susceptibility to|pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0013024	http://identifiers.org/snomedct/233947005|https://omim.org/entry/612862|UMLS:C2363973|Orphanet:70591	ordo_disease|gard_rare
MONDO:0015687	biolink:Disease	chronic eosinophilic leukemia		UMLS:C0346421|MedDRA:10065854|MESH:C580364|ONCOTREE:CELNOS|ICDO:9964/3|DOID:0080367|EFO:1000178|Orphanet:168940|SCTID:188733003|NCIT:C4563	mondo.json	CELNOS|eosinophilic leukemia|CEL/hypereosinophilic syndrome|CEL|chronic eosinophilic leukemia/hypereosinophilic syndrome|chronic eosinophilic leukemia	http://purl.obolibrary.org/obo/MONDO_0015687	NCIT:C4563|Orphanet:168940|UMLS:C0346421|DOID:0080367|http://identifiers.org/snomedct/188733003|http://identifiers.org/mesh/C580364	ordo_disease
CL:0002597	biolink:Cell	smooth muscle cell of bladder	A smooth muscle cell of the bladder.	KUPO:0001122	mondo.json		http://purl.obolibrary.org/obo/CL_0002597		
CL:1000123	biolink:Cell	metanephric nephron tubule epithelial cell			mondo.json		http://purl.obolibrary.org/obo/CL_1000123		
MONDO:0015686	biolink:Disease	primary peritoneal carcinoma	Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma.	HP:0030406|NCIT:C40022|UMLS:CN200184|Orphanet:168829	mondo.json	EOPPC|primary peritoneal carcinoma|primary peritoneal cancer|PPC|primary peritoneal carcinoma (disease)|serous surface papillary carcinoma|Extra-ovarian primary peritoneal carcinoma|primary peritoneal serous carcinoma	http://purl.obolibrary.org/obo/MONDO_0015686	Orphanet:168829|NCIT:C40022|UMLS:CN200184	ordo_disease
MONDO:0013025	biolink:Disease	chromosome 6q24-q25 deletion syndrome	6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.	Orphanet:251056|NCIT:C36470|UMLS:C3150215|OMIM:612863|DOID:0060424|SCTID:719663005|GARD:0003764|UMLS:C4304527	mondo.json	chromosome 6q25 microdeletion syndrome|monosomy 6q25|del(6q25)|chromosome 6q25-q25 deletion syndrome|chromosome 6q24-q25 deletion syndrome|6q25 microdeletion syndrome|Del(6)(q25)|deletion 6q25	http://purl.obolibrary.org/obo/MONDO_0013025	https://omim.org/entry/612863|UMLS:C4304527|UMLS:C3150215|Orphanet:251056|DOID:0060424|http://identifiers.org/snomedct/719663005	ordo_malformation_syndrome
CL:0002596	biolink:Cell	smooth muscle cell of the carotid artery	Smooth muscle cell of the carotid artery.		mondo.json		http://purl.obolibrary.org/obo/CL_0002596		
CL:0002599	biolink:Cell	smooth muscle cell of the esophagus	A smooth muscle cell of the esophagus.		mondo.json		http://purl.obolibrary.org/obo/CL_0002599		
CL:0002598	biolink:Cell	bronchial smooth muscle cell		BTO:0004402	mondo.json		http://purl.obolibrary.org/obo/CL_0002598		
MONDO:0013028	biolink:Disease	adenosine monophosphate deaminase deficiency	Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue.	MESH:C538234|SCTID:9105005|Orphanet:45|ICD9:277.2	mondo.json	myoadenylate deaminase deficiency|AMP deaminase deficiency	http://purl.obolibrary.org/obo/MONDO_0013028	http://identifiers.org/snomedct/9105005|Orphanet:45|http://identifiers.org/mesh/C538234	ordo_disease
MONDO:0013029	biolink:Disease	cerebellar ataxia type 9		GARD:0010481|UMLS:C3887996|OMIM:612876|DOID:0111747	mondo.json	cerebellar ataxia type 9|spinocerebellar ataxia type 9|spinocerebellar ataxia 9|SCA9	http://purl.obolibrary.org/obo/MONDO_0013029	https://omim.org/entry/612876|UMLS:C3887996|DOID:0111747	
HGNC:12469	biolink:NamedThing	UBA1			mondo.json		http://identifiers.org/hgnc/12469		
MONDO:0015681	biolink:Disease	childhood disintegrative disorder	A rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia.	SCTID:61831009|SCTID:71961003|GARD:0006040|UMLS:CN072151|ICD9:299.1|Orphanet:168782|UMLS:C0236791|MedDRA:10008522|NCIT:C97164|DOID:13487	mondo.json	disintegrative psychosis|heller's syndrome|dementia infantilis|symbiotic psychosis|heller syndrome|childhood disintegrative disease	http://purl.obolibrary.org/obo/MONDO_0015681	UMLS:CN072151|UMLS:C0236791|http://identifiers.org/snomedct/71961003|DOID:13487|NCIT:C97164|Orphanet:168782	gard_rare|ordo_disease
GO:0098815	biolink:NamedThing	modulation of excitatory postsynaptic potential	Any process that modulates the frequency, rate or extent of excitatory postsynaptic potential (EPSP). EPSP is a process that leads to a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential.		mondo.json		http://purl.obolibrary.org/obo/GO_0098815		
HGNC:7097	biolink:NamedThing	MIF			mondo.json		http://identifiers.org/hgnc/7097		
MONDO:0015680	biolink:Disease	obsolete rare pervasive developmental disorder	OBSOLETE. Rare pervasive developmental disorder.	Orphanet:168778|MedDRA:10061345	mondo.json	rare ASD|rare PDD|rare autism spectrum disorder|rare pervasive developmental disorder	http://purl.obolibrary.org/obo/MONDO_0015680	Orphanet:168778	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
HGNC:7096	biolink:NamedThing	MID2			mondo.json		http://identifiers.org/hgnc/7096		
GO:0098813	biolink:NamedThing	nuclear chromosome segregation	The process in which genetic material, in the form of nuclear chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. Nuclear chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles.		mondo.json		http://purl.obolibrary.org/obo/GO_0098813		
MONDO:0015685	biolink:Disease	obsolete peritoneal cystic mesothelioma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015685		
CL:0002591	biolink:Cell	smooth muscle cell of the pulmonary artery	A smooth muscle of the pulmonary artery.	BTO:0003336	mondo.json		http://purl.obolibrary.org/obo/CL_0002591		
MONDO:0013022	biolink:Disease	restless legs syndrome, susceptibility to, 7		OMIM:612853	mondo.json	restless legs syndrome 7|RLS7|restless legs syndrome, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0013022	https://omim.org/entry/612853	predisposition
GO:0050870	biolink:NamedThing	positive regulation of T cell activation	Any process that activates or increases the frequency, rate or extent of T cell activation.		mondo.json	positive regulation of T-lymphocyte activation|up-regulation of T cell activation|positive regulation of T lymphocyte activation|positive regulation of T-cell activation|up regulation of T cell activation|activation of T cell activation|stimulation of T cell activation|upregulation of T cell activation	http://purl.obolibrary.org/obo/GO_0050870		
MONDO:0015684	biolink:Disease	obsolete malignant peritoneal mesothelioma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015684		
MONDO:0013023	biolink:Disease	orofacial cleft 12		DOID:0080405|OMIM:612858|UMLS:C2748505|MESH:C567548	mondo.json	cleft lip with or without cleft palate, nonsyndromic, 12|orofacial cleft 12|OFC12	http://purl.obolibrary.org/obo/MONDO_0013023	https://omim.org/entry/612858|http://identifiers.org/mesh/C567548|DOID:0080405|UMLS:C2748505	
CL:0002590	biolink:Cell	smooth muscle cell of the brain vasculature	A vascular associated smooth muscle cell of the brain vasculature.		mondo.json		http://purl.obolibrary.org/obo/CL_0002590		
GO:0035295	biolink:NamedThing	tube development	The process whose specific outcome is the progression of a tube over time, from its initial formation to a mature structure. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues including lung and trachea, kidney, the mammary gland, the vascular system and the gastrointestinal and urinary-genital tracts.		mondo.json		http://purl.obolibrary.org/obo/GO_0035295		
HGNC:12463	biolink:NamedThing	UBB			mondo.json		http://identifiers.org/hgnc/12463		
GO:0035296	biolink:NamedThing	regulation of tube diameter	Any process that modulates the diameter of a tube.		mondo.json		http://purl.obolibrary.org/obo/GO_0035296		
MONDO:0015683	biolink:Disease	primary malignant peritoneal tumor		Orphanet:168807|UMLS:CN200181	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015683	UMLS:CN200181|Orphanet:168807	disease_grouping|ordo_group_of_disorders
MONDO:0013020	biolink:Disease	narcolepsy 5, susceptibility to		UMLS:C2748508|OMIM:612851	mondo.json	narcolepsy 5|narcolepsy 5, susceptibility to|NRCLP5	http://purl.obolibrary.org/obo/MONDO_0013020	https://omim.org/entry/612851|UMLS:C2748508	predisposition
CL:0002593	biolink:Cell	smooth muscle cell of the internal thoracic artery	A smooth muscle of the internal thoracic artery.		mondo.json		http://purl.obolibrary.org/obo/CL_0002593		
MONDO:0015682	biolink:Disease	primary peritoneal tumor		Orphanet:168803|UMLS:CN200180	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015682	UMLS:CN200180|Orphanet:168803	disease_grouping|ordo_group_of_disorders
MONDO:0013021	biolink:Disease	sterile multifocal osteomyelitis with periostitis and pustulosis	An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis.	MESH:C557815|UMLS:C2748507|OMIM:612852|Orphanet:210115|NCIT:C119056|GARD:0010516	mondo.json	deficiency of the Interleukin-1 receptor antagonist|DIRA|osteomyelitis, STERILE multifocal, with periostitis and pustulosis|deficiency of interleukin-1 receptor antagonist|autoinflammatory disease due to interleukin-1 receptor antagonist deficiency|Interleukin-1 receptor antagonist deficiency|Interleukin 1 receptor antagonist deficiency|OMPP	http://purl.obolibrary.org/obo/MONDO_0013021	http://identifiers.org/mesh/C557815|https://omim.org/entry/612852|UMLS:C2748507|Orphanet:210115|NCIT:C119056	ordo_disease
CL:0002592	biolink:Cell	smooth muscle cell of the coronary artery	A smooth muscle cell of the coronary artery.		mondo.json		http://purl.obolibrary.org/obo/CL_0002592		
GO:0050884	biolink:NamedThing	neuromuscular process controlling posture	Any process in which an organism voluntarily modulates its posture, the alignment of its anatomical parts.		mondo.json	regulation of posture	http://purl.obolibrary.org/obo/GO_0050884		
MONDO:0003689	biolink:Disease	familial hemolytic anemia	A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies.	MESH:D000745|GARD:0006167|NCIT:C34379|SCTID:42601008|ICD9:282|ICD9:282.9|DOID:589	mondo.json	anemia hemolytic congenital|hereditary hemolytic anemia|congenital hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0003689	http://identifiers.org/snomedct/42601008|NCIT:C34379|DOID:589|http://identifiers.org/mesh/D000745	gard_rare
MONDO:0001026	biolink:Disease	obsolete bacterial infectious disease	OBSOLETE. A infectious disease involving the Bacteria.		mondo.json	infections, Bacteria|Bacteria infection	http://purl.obolibrary.org/obo/MONDO_0001026		
MONDO:0001025	biolink:Disease	seminal vesicle chronic gonorrhea	Chronic form of gonococcal seminal vesiculitis.	DOID:10399|UMLS:C0153205|ICD9:098.34|SCTID:23975003	mondo.json	gonococcal seminal vesiculitis, chronic|chronic gonococcal seminal vesiculitis	http://purl.obolibrary.org/obo/MONDO_0001025	DOID:10399|UMLS:C0153205|http://identifiers.org/snomedct/23975003	
GO:0050885	biolink:NamedThing	neuromuscular process controlling balance	Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors.		mondo.json	regulation of balance	http://purl.obolibrary.org/obo/GO_0050885		
MONDO:0001024	biolink:Disease	pneumonic plague	A plague in which the bacteria have infected the lungs.	DOID:10398|ICD10CM:A20.2|ICD9:020.3|UMLS:C0524688|SCTID:35339003|ICD9:020.5|ICD9:020.4	mondo.json	primary pneumonic plague|secondary pneumonic plague	http://purl.obolibrary.org/obo/MONDO_0001024	DOID:10398|UMLS:C0524688|http://purl.bioontology.org/ontology/ICD10CM/A20.2|http://identifiers.org/snomedct/35339003	
MONDO:0001023	biolink:Disease	prolymphocytic leukemia	A mature B- or T- cell leukemia with progressive clinical course. It is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen.	ICDO:9832/3|MESH:D015463|SCTID:110006004|GARD:0011965|DOID:1039|UMLS:C0023486|ICD9:204.80|NCIT:C3181	mondo.json	PLL|prolymphocytic leukemia (B or T-cell)|prolymphocytic leukemia (B or T)|prolymphocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0001023	NCIT:C3181|http://identifiers.org/mesh/D015463|http://identifiers.org/snomedct/110006004|UMLS:C0023486|DOID:1039	
MONDO:0027655	biolink:Disease	allopurinol toxicity		Orphanet:240845	mondo.json		http://purl.obolibrary.org/obo/MONDO_0027655	Orphanet:240845	ordo_disorder
MONDO:0003685	biolink:Disease	retroperitoneal germ cell neoplasm	A germ cell tumor that involves the retroperitoneal space.	NCIT:C6447|DOID:5874|UMLS:C1335776	mondo.json	germ cell tumor of retroperitoneum|retroperitoneal germ cell tumor|germ cell neoplasm of the retroperitoneum|germ cell neoplasm of retroperitoneum|germ cell tumor of the retroperitoneum	http://purl.obolibrary.org/obo/MONDO_0003685	UMLS:C1335776|DOID:5874|NCIT:C6447	
MONDO:0003686	biolink:Disease	apocrine sweat gland neoplasm	A benign or malignant sweat gland neoplasm with apocrine differentiation. Representative examples include apocrine adenoma, ceruminous adenocarcinoma, and apocrine breast carcinoma.	NCIT:C6798|UMLS:C1332318|DOID:5876	mondo.json	neoplasm of apocrine sweat gland|apocrine sweat gland neoplasm (disease)|apocrine sweat gland tumor|apocrine tumor|apocrine neoplasm of skin|apocrine skin neoplasm|apocrine skin tumor|apocrine neoplasm of the skin|tumor of apocrine sweat gland|apocrine tumor of skin|apocrine neoplasm|apocrine tumor of the skin	http://purl.obolibrary.org/obo/MONDO_0003686	UMLS:C1332318|DOID:5876|NCIT:C6798	
MONDO:0001029	biolink:Disease	Klippel-Feil syndrome	A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.	ICD10CM:Q76.1|OMIMPS:118100|ICD9:756.16|SCTID:5601008|MESH:D007714|GARD:0010280|NCIT:C98967|DOID:10426	mondo.json	autosomal dominant Klippel-Feil syndrome|cervical vertebral fusion|congenital synostosis of cervical vertebrae|Klippel-Feil and Turner syndrome|congenital dystrophia brevicollis|Klippel-Feil Sequence|Klippel-Feil deformity, deafness and facial asymmetry|Klippel Feil syndrome	http://purl.obolibrary.org/obo/MONDO_0001029	http://identifiers.org/mesh/D007714|NCIT:C98967|DOID:10426|http://identifiers.org/snomedct/5601008|http://purl.bioontology.org/ontology/ICD10CM/Q76.1|https://omim.org/phenotypicSeries/PS118100	gard_rare
MONDO:0001028	biolink:Disease	acute pericementitis	An acute inflammatory process that affects the tissues that surround and support the teeth.	DOID:10423|SCTID:21638000|NCIT:C34354|ICD9:523.33|ICD9:523.3|UMLS:C0001342	mondo.json	acute periodontitis|periodontitis, acute	http://purl.obolibrary.org/obo/MONDO_0001028	DOID:10423|UMLS:C0001342|http://identifiers.org/snomedct/21638000|NCIT:C34354	
MONDO:0003687	biolink:Disease	endocardium cancer	A malignant neoplasm involving the endocardium.	NCIT:C4570|DOID:5877|UMLS:C0346612|SCTID:363436001	mondo.json	endocardium cancer|malignant endocardial neoplasm|malignant tumor of the endocardium|malignant tumor of endocardium|malignant endocardium neoplasm|malignant neoplasm of endocardium|malignant endocardial tumor|cancer of endocardium|malignant neoplasm of the endocardium	http://purl.obolibrary.org/obo/MONDO_0003687	NCIT:C4570|UMLS:C0346612|http://identifiers.org/snomedct/363436001|DOID:5877	
GO:0050886	biolink:NamedThing	endocrine process	The process that involves the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system.		mondo.json	endocrine physiology|endocrine physiological process	http://purl.obolibrary.org/obo/GO_0050886		
HGNC:24415	biolink:NamedThing	BOLA3			mondo.json		http://identifiers.org/hgnc/24415		
MONDO:0003688	biolink:Disease	well differentiated papillary mesothelioma	A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma.	NCIT:C7635|UMLS:C1337012|ICDO:9052/1|DOID:5884	mondo.json	well-differentiated papillary neoplasm of the mesothelium|well-differentiated papillary neoplasm of mesothelium|well-differentiated papillary tumor of the mesothelium|well differentiated papillary mesothelioma|well-differentiated papillary tumor of mesothelium|benign intermediate mesothelioma|benign/Intermediate mesothelioma|WDPM|well-differentiated mesothelial papillary neoplasm|well-differentiated mesothelial papillary tumor	http://purl.obolibrary.org/obo/MONDO_0003688	DOID:5884|UMLS:C1337012|NCIT:C7635	
MONDO:0001027	biolink:Disease	gonococcal seminal vesiculitis	A gonorrhea that involves the seminal vesicle.	DOID:10400|SCTID:301990003|UMLS:C0578661	mondo.json	gonococcal seminal vesiculitis (acute)|seminal vesicle gonorrhea|gonorrhea of seminal vesicle	http://purl.obolibrary.org/obo/MONDO_0001027	DOID:10400|http://identifiers.org/snomedct/301990003|UMLS:C0578661	
GO:2001259	biolink:NamedThing	positive regulation of cation channel activity	Any process that activates or increases the frequency, rate or extent of cation channel activity.		mondo.json	positive regulation of nonselective cation channel activity|positive regulation of cation diffusion facilitator activity	http://purl.obolibrary.org/obo/GO_2001259		
MONDO:0003681	biolink:Disease	myxoid chondrosarcoma	A chondrosarcoma characterized by the presence of myxoid changes.	ICDO:9231/3|NCIT:C4303|DOID:5861|ONCOTREE:MYCHS|UMLS:C0334551	mondo.json	myxoid chondrosarcoma|MYCHS	http://purl.obolibrary.org/obo/MONDO_0003681	UMLS:C0334551|DOID:5861|NCIT:C4303	
CL:0002569	biolink:Cell	mesenchymal stem cell of umbilical cord	A mesenchymal stem cell of the umbilical cord.		mondo.json		http://purl.obolibrary.org/obo/CL_0002569		
MONDO:0003682	biolink:Disease	localized chondrosarcoma	A non-disseminated skeletal or extraskeletal chondrosarcoma.	UMLS:C0855011|DOID:5862|NCIT:C8778	mondo.json	localized chondrosarcoma|chondrosarcoma, localized	http://purl.obolibrary.org/obo/MONDO_0003682	UMLS:C0855011|DOID:5862|NCIT:C8778	
MONDO:0003683	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0003683		
MONDO:0003684	biolink:Disease	clear cell chondrosarcoma	A rare, usually low grade chondrosarcoma characterized by the presence of tumor cells with clear cytoplasm. It usually arises in the epiphyseal ends of long bones.	NCIT:C6475|DOID:5867|ICDO:9242/3|UMLS:C1266167	mondo.json	clear cell chondrosarcoma|clear cell chondrosarcoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003684	UMLS:C1266167|DOID:5867|NCIT:C6475	
MONDO:0001022	biolink:Disease	disuse amblyopia		UMLS:C0152189|SCTID:193638002|ICD9:368.02|DOID:10378	mondo.json	deprivation amblyopia	http://purl.obolibrary.org/obo/MONDO_0001022	DOID:10378|UMLS:C0152189|http://identifiers.org/snomedct/193638002	
MONDO:0027652	biolink:Disease	5-fluorouracil toxicity		Orphanet:240839	mondo.json		http://purl.obolibrary.org/obo/MONDO_0027652	Orphanet:240839	ordo_disorder
MONDO:0001021	biolink:Disease	ametropic amblyopia		ICD9:368.03|SCTID:90927000|UMLS:C0152190|DOID:10377	mondo.json	refractive amblyopia	http://purl.obolibrary.org/obo/MONDO_0001021	DOID:10377|UMLS:C0152190|http://identifiers.org/snomedct/90927000	
MONDO:0027653	biolink:Disease	abacavir toxicity		Orphanet:240841	mondo.json		http://purl.obolibrary.org/obo/MONDO_0027653	Orphanet:240841	ordo_disorder
MONDO:0001020	biolink:Disease	amblyopia	Decreased vision that results from abnormal visual development.	MESH:D000550|NCIT:C118764|SCTID:387742006|CSP:1114-9655|HP:0000646|ICD9:368.00|UMLS:C0002418|DOID:10376	mondo.json	amblyopia|amblyopia (disease)|lazy eye	http://purl.obolibrary.org/obo/MONDO_0001020	DOID:10376|http://identifiers.org/snomedct/387742006|UMLS:C0002418|NCIT:C118764|http://identifiers.org/mesh/D000550	
MONDO:0003680	biolink:Disease	periosteal chondrosarcoma	A chondrosarcoma arising from the surface of bone. It is characterized by a lobulated growth pattern, high mitotic activity, myxoid stroma formation, and necrotic changes. It occurs in adults. Clinical presentation includes pain, and sometimes swelling.	DOID:5859|DOID:5866|UMLS:C0334549|ICDO:9221/3|NCIT:C7357	mondo.json	juxtacortical chondrosarcoma|chondrosarcoma (disease) of periosteum|periosteal chondrosarcoma|juxtacortical chondrosarcoma (morphologic abnormality)|periosteum chondrosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0003680	UMLS:C0334549|DOID:5866|DOID:5859|NCIT:C7357	
MONDO:0013015	biolink:Disease	Brugada syndrome 5	Any Brugada syndrome in which the cause of the disease is a mutation in the SCN1B gene.	UMLS:C2748541|DOID:0110222|OMIM:612838|Orphanet:871	mondo.json	BRGDA5|Brugada syndrome 5|Cardiac conduction defect, nonspecific|SCN1B Brugada syndrome|Brugada syndrome type 5|Brugada syndrome caused by mutation in SCN1B	http://purl.obolibrary.org/obo/MONDO_0013015	https://omim.org/entry/612838|DOID:0110222|UMLS:C2748541	
MONDO:0015678	biolink:Disease	dysplasia of head of femur, Meyer type	Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis.	UMLS:C4274970|Orphanet:168621|SCTID:715861004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015678	Orphanet:168621|UMLS:C4274970|http://identifiers.org/snomedct/715861004	ordo_disease
GO:2001251	biolink:NamedThing	negative regulation of chromosome organization	Any process that stops, prevents or reduces the frequency, rate or extent of chromosome organization.		mondo.json	negative regulation of nuclear genome maintenance|negative regulation of maintenance of genome integrity|negative regulation of chromosome organization and biogenesis|negative regulation of chromosome organisation	http://purl.obolibrary.org/obo/GO_2001251		
MONDO:0013016	biolink:Disease	leukocyte adhesion deficiency 3	Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder.	Orphanet:99844|OMIM:612840|DOID:0110912|MESH:C567555|UMLS:C2748536	mondo.json	leukocyte adhesion deficiency type 3|lad-III|IADD|leukocyte adhesion deficiency caused by mutation in FERMT3|lad-1 variant|leukocyte adhesion deficiency, type 3|leukocyte adhesion deficiency type III|leukocyte adhesion deficiency, type III|LAD1V|LAD1 variant|integrin activation deficiency disease|leukocyte adhesion deficiency-1 variant|FERMT3 leukocyte adhesion deficiency|integrin Activation deficiency disease|leukocyte adhesion deficiency 1 variant|LAD3|leukocyte adhesion deficiency 3	http://purl.obolibrary.org/obo/MONDO_0013016	DOID:0110912|https://omim.org/entry/612840|http://identifiers.org/mesh/C567555|Orphanet:99844|UMLS:C2748536	ordo_clinical_subtype
GO:2001252	biolink:NamedThing	positive regulation of chromosome organization	Any process that activates or increases the frequency, rate or extent of chromosome organization.		mondo.json	positive regulation of nuclear genome maintenance|positive regulation of chromosome organisation|positive regulation of chromosome organization and biogenesis|positive regulation of maintenance of genome integrity	http://purl.obolibrary.org/obo/GO_2001252		
MONDO:0015677	biolink:Disease	cardiac diverticulum	Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse.	GARD:0001094|HP:0100571|UMLS:CN226726|Orphanet:1686	mondo.json	Cardiac diverticulum|cardiac diverticulum (disease)	http://purl.obolibrary.org/obo/MONDO_0015677	UMLS:CN226726|Orphanet:1686	ordo_morphological_anomaly
MONDO:0013013	biolink:Disease	question mark ears, isolated		OMIM:612798	mondo.json	question MARK ears, isolated|auricular cleft, congenital|question mark ears, isolated|Cosman deformity of the auricle|QME|ears, prominent and constricted	http://purl.obolibrary.org/obo/MONDO_0013013	https://omim.org/entry/612798	
CL:0002564	biolink:Cell	nucleus pulposus cell of intervertebral disc	A connective tissue cell of the nucleus pulposus cell of intervertebral disc.		mondo.json		http://purl.obolibrary.org/obo/CL_0002564		
MONDO:0015676	biolink:Disease	obsolete hyperandrogenism due to cortisone reductase deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015676		
MONDO:0015675	biolink:Disease	distomatosis	Distomatosis is a group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines.	SCTID:26089000|ICD9:121.8|ICD9:121.9|Orphanet:1685|GARD:0001891	mondo.json	distomiasis|fluke infection	http://purl.obolibrary.org/obo/MONDO_0015675	Orphanet:1685|http://identifiers.org/snomedct/26089000	ordo_disease|gard_rare
CL:0002563	biolink:Cell	intestinal epithelial cell	An epithelial cell of the intestine.		mondo.json		http://purl.obolibrary.org/obo/CL_0002563		
MONDO:0013014	biolink:Disease	spondyloepimetaphyseal dysplasia, aggrecan type	A spondyloepimetaphyseal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.	OMIM:612813|UMLS:C2748544|GARD:0010513|SCTID:719165004|MESH:C567558|Orphanet:171866	mondo.json	SEMD, aggrecan type|SEMDAG|spondyloepimetaphyseal dysplasia, aggrecan type	http://purl.obolibrary.org/obo/MONDO_0013014	https://omim.org/entry/612813|Orphanet:171866|http://identifiers.org/mesh/C567558|UMLS:C2748544|http://identifiers.org/snomedct/719165004	ordo_disease|gard_rare
MONDO:0013019	biolink:Disease	obsolete spondyloepimetaphyseal dysplasia, Pakistani type			mondo.json		http://purl.obolibrary.org/obo/MONDO_0013019		
MONDO:0013017	biolink:Disease	hypotrichosis 5	A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3.	UMLS:C2748535|OMIM:612841|DOID:0110702|MESH:C567554	mondo.json	hypotrichosis 5|HYPT5|Muhh2|hypotrichosis type 5|Marie Unna hereditary hypotrichosis 2|hypt5	http://purl.obolibrary.org/obo/MONDO_0013017	https://omim.org/entry/612841|http://identifiers.org/mesh/C567554|UMLS:C2748535|DOID:0110702	
GO:2001257	biolink:NamedThing	regulation of cation channel activity	Any process that modulates the frequency, rate or extent of cation channel activity.		mondo.json	regulation of nonselective cation channel activity|regulation of cation diffusion facilitator activity	http://purl.obolibrary.org/obo/GO_2001257		
MONDO:0013018	biolink:Disease	keratosis follicularis spinulosa decalvans, autosomal dominant		UMLS:C2748527|OMIM:612843|MESH:C567553	mondo.json	keratosis follicularis SPINULOSA decalvans, autosomal dominant|keratosis follicularis spinulosa decalvans, autosomal dominant|KFSD	http://purl.obolibrary.org/obo/MONDO_0013018	https://omim.org/entry/612843|http://identifiers.org/mesh/C567553|UMLS:C2748527	
MONDO:0015679	biolink:Disease	autosomal thrombocytopenia with normal platelets		Orphanet:168629|UMLS:CN200175	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015679	Orphanet:168629|UMLS:CN200175	ordo_etiological_subtype
GO:2001258	biolink:NamedThing	negative regulation of cation channel activity	Any process that stops, prevents or reduces the frequency, rate or extent of cation channel activity.		mondo.json	negative regulation of cation diffusion facilitator activity|negative regulation of nonselective cation channel activity	http://purl.obolibrary.org/obo/GO_2001258		
MONDO:0015670	biolink:Disease	obsolete cardiomyopathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015670		
ENVO:00000128	biolink:NamedThing	dry valley	A valley that no longer has a surface flow of water. Typically found in either Karst (limestone) or chalk terrain.		mondo.json		http://purl.obolibrary.org/obo/ENVO_00000128		
MONDO:0013011	biolink:Disease	atrial septal defect 5	Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene.	DOID:0110110|UMLS:C2748552|MESH:C567561|OMIM:612794	mondo.json	ACTC1 atrial heart septal defect|atrial septal defect 5|atrial heart septal defect caused by mutation in ACTC1|atrial heart septal defect type 5|ASD5|atrial septal defect type 5	http://purl.obolibrary.org/obo/MONDO_0013011	https://omim.org/entry/612794|http://identifiers.org/mesh/C567561|UMLS:C2748552|DOID:0110110	
MONDO:0015674	biolink:Disease	late infantile neuronal ceroid lipofuscinosis	A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.	Orphanet:168491|SCTID:14637005	mondo.json	dollinger-Bielschowsky syndrome|Jansky-Bielschowsky disease|amaurotic idiocy, early juvenile type|amaurotic idiocy early juvenile type|LINCL|Bielschowsky-jansky disease|late infantile NCL|late-infantile neuronal ceroid lipofuscinosis|dollinger-Bielschowsky type neuronal ceroid lipofuscinosis|Bielschowsky-jansky type neuronal ceroid lipofuscinosis|amaurotic idiocy, late infantile type|amaurotic idiocy late infantile type	http://purl.obolibrary.org/obo/MONDO_0015674	http://identifiers.org/snomedct/14637005|Orphanet:168491	ordo_disease
GO:0050880	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0050880		
GO:0050881	biolink:NamedThing	musculoskeletal movement	The movement of an organism or part of an organism using mechanoreceptors, the nervous system, striated muscle and/or the skeletal system.		mondo.json		http://purl.obolibrary.org/obo/GO_0050881		
MONDO:0013012	biolink:Disease	inflammatory bowel disease 27	An inflammatory bowel disease that has material basis in variation in the chromosome region 13q13.3	OMIM:612796|MESH:C567559|UMLS:C2748550|DOID:0110902	mondo.json	IBD27|inflammatory bowel disease 27|inflammatory bowel disease type 27	http://purl.obolibrary.org/obo/MONDO_0013012	https://omim.org/entry/612796|http://identifiers.org/mesh/C567559|UMLS:C2748550|DOID:0110902	
MONDO:0015673	biolink:Disease	obsolete rare cardiac tumor	OBSOLETE. Any of the forms of heart neoplasm that have a rare incidence.	Orphanet:168194	mondo.json	rare heart neoplasm	http://purl.obolibrary.org/obo/MONDO_0015673	Orphanet:168194	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0015672	biolink:Disease	diprosopus	Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the central nervous, cardiovascular, gastrointestinal and respiratory systems. Cleft lip and palate have been reported in rare cases.	GARD:0001876|Orphanet:1681|SCTID:62192003	mondo.json	Diprosopia|craniofacial duplication	http://purl.obolibrary.org/obo/MONDO_0015672	http://identifiers.org/snomedct/62192003|Orphanet:1681	ordo_morphological_anomaly
MONDO:0015671	biolink:Disease	obsolete diphtheria			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015671		
MONDO:0013010	biolink:Disease	autosomal recessive nonsyndromic hearing loss 71	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3.	OMIM:612789|UMLS:C2748554|MESH:C567562|DOID:0110522	mondo.json	autosomal recessive deafness 71|autosomal recessive nonsyndromic deafness type 71|deafness, autosomal recessive 71|autosomal recessive nonsyndromic deafness 71|DFNB71	http://purl.obolibrary.org/obo/MONDO_0013010	https://omim.org/entry/612789|http://identifiers.org/mesh/C567562|UMLS:C2748554|DOID:0110522	
MONDO:0001037	biolink:Disease	ring corneal ulcer		ICD9:370.02|SCTID:111520007|UMLS:C0155068|DOID:10444	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001037	DOID:10444|http://identifiers.org/snomedct/111520007|UMLS:C0155068	
MONDO:0001036	biolink:Disease	hypopyon	An accumulation of pus in the anterior chamber of the eye.	SCTID:87807004|ICD9:364.05|NCIT:C50593|UMLS:C0020641|DOID:10443	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001036	DOID:10443|UMLS:C0020641|http://identifiers.org/snomedct/87807004|NCIT:C50593	
GO:0050896	biolink:NamedThing	response to stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism.		mondo.json	physiological response to stimulus	http://purl.obolibrary.org/obo/GO_0050896		
ENVO:00000134	biolink:NamedThing	permafrost	Soil or rock and included ice or organic material at or below the freezing point of water (0 degrees Celsius or 32 degrees Fahrenheit) for two or more years.		mondo.json	Permafrost	http://purl.obolibrary.org/obo/ENVO_00000134		
MONDO:0001035	biolink:Disease	hypopyon ulcer		UMLS:C0155070|SCTID:6395007|ICD9:370.04|DOID:10442	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001035	DOID:10442|http://identifiers.org/snomedct/6395007|UMLS:C0155070	
ENVO:00000131	biolink:NamedThing	glacial feature	A hydrographic feature characterized by the dominance of snow or ice.		mondo.json	Ice|glacier feature|glacial landform|LandIce|glacer	http://purl.obolibrary.org/obo/ENVO_00000131		
MONDO:0001034	biolink:Disease	marginal corneal ulcer		DOID:10441|UMLS:C0155067|SCTID:47398006|ICD9:370.01	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001034	http://identifiers.org/snomedct/47398006|DOID:10441|UMLS:C0155067	
MONDO:0003696	biolink:Disease	obsolete meningeal melanocytoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003696		
MONDO:0003697	biolink:Disease	non-invasive verrucous carcinoma of the penis		UMLS:C1334984|NCIT:C27791|DOID:5907	mondo.json	non-invasive verrucous carcinoma of the penis|non-invasive verrucous carcinoma of penis|penis non-invasive verrucous carcinoma|non-invasive penile verrucous carcinoma	http://purl.obolibrary.org/obo/MONDO_0003697	UMLS:C1334984|DOID:5907|NCIT:C27791	
MONDO:0001039	biolink:Disease	tonsillitis	Inflammation of the tonsillar tissue.	UMLS:C0040425|UMLS:C0149517|SCTID:90979004|ICD10CM:J35.01|NCIT:C116006|MESH:D014069|ICD9:474.00|DOID:10456	mondo.json	tonsilitis|chronic tonsillitis|throat infection - tonsillitis|inflammation of tonsil|tonsil inflammation	http://purl.obolibrary.org/obo/MONDO_0001039	http://purl.bioontology.org/ontology/ICD10CM/J35.01|DOID:10456|UMLS:C0149517|http://identifiers.org/mesh/D014069|NCIT:C116006|http://identifiers.org/snomedct/90979004|UMLS:C0040425	
MONDO:0003698	biolink:Disease	penis verrucous carcinoma	A slow growing, locally recurring, very well differentiated papillary squamous cell carcinoma that arises from the penis. It is characterized by the presence of acanthosis and hyperkeratosis. The neoplastic infiltrate extends into the underlying stroma with a pushing border. Koilocytotic atypia is not present.	UMLS:C1336955|ONCOTREE:VPSCC|NCIT:C6982|DOID:5908	mondo.json	verrucous carcinoma of the penis|verrucous carcinoma of penis|penis verrucous carcinoma|verrucous squamous carcinoma of penis|verrucous penile squamous cell carcinoma|verrucous penile carcinoma|verrucous squamous carcinoma of the penis|squamous carcinoma of the penis, verrucous type|verrucous penile squamous carcinoma|squamous carcinoma of penis, verrucous type	http://purl.obolibrary.org/obo/MONDO_0003698	UMLS:C1336955|DOID:5908|NCIT:C6982	
UBERON:0036242	biolink:AnatomicalEntity	post-embryonic notochord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036242		
MONDO:0001038	biolink:Disease	perforated corneal ulcer		ICD9:370.06|UMLS:C0151844|SCTID:46606001|DOID:10445	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001038	DOID:10445|UMLS:C0151844|http://identifiers.org/snomedct/46606001	
MONDO:0003699	biolink:Disease	phobic disorder	An anxiety disorder characterized by an intense, irrational fear of an object, activity, or situation. The individual seeks to avoid the object, activity, or situation. In adults, the individual recognizes that the fear is excessive or unreasonable.	SCTID:386810004|ICD9:300.2|DOID:591|EFO:1001908|MESH:D010698|ICD9:300.20|NCIT:C35420	mondo.json	phobia	http://purl.obolibrary.org/obo/MONDO_0003699	NCIT:C35420|DOID:591|http://identifiers.org/mesh/D010698|http://identifiers.org/snomedct/386810004	
UBERON:0012292	biolink:AnatomicalEntity	embryonic cloacal fold			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012292		
MONDO:0003692	biolink:Disease	adult malignant mesenchymoma	A malignant mesenchymoma occurring in adults.	UMLS:C0279548|DOID:5894|NCIT:C7947	mondo.json	malignant mesenchymoma of adults|adult malignant mesenchymoma|malignant mesenchymoma	http://purl.obolibrary.org/obo/MONDO_0003692	UMLS:C0279548|DOID:5894|NCIT:C7947	
GO:1902645	biolink:NamedThing	tertiary alcohol biosynthetic process	The chemical reactions and pathways resulting in the formation of tertiary alcohol.		mondo.json	tertiary alcohol anabolism|tertiary alcohol synthesis|tertiary alcohol formation|tertiary alcohol biosynthesis	http://purl.obolibrary.org/obo/GO_1902645		
UBERON:0036244	biolink:AnatomicalEntity	secretion of serous membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036244		
UBERON:0012299	biolink:AnatomicalEntity	mucosa of urethra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012299		
MONDO:0003693	biolink:Disease	clear cell cystadenofibroma	A benign neoplasm characterized by the presence of cystic glandular and fibrous tissues and clear cells.	UMLS:C1377853|NCIT:C8988|DOID:5895	mondo.json	clear cell cystadenofibroma	http://purl.obolibrary.org/obo/MONDO_0003693	UMLS:C1377853|DOID:5895|NCIT:C8988	
UBERON:0036243	biolink:AnatomicalEntity	vaginal fluid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036243		
MONDO:0003694	biolink:Disease	ovarian clear cell cystadenofibroma	A benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma and cystic structures.	UMLS:C1518695|DOID:5896|NCIT:C40086	mondo.json	ovarian clear cell cystadenofibroma|ovary clear cell cystadenofibroma|clear cell cystadenofibroma of ovary	http://purl.obolibrary.org/obo/MONDO_0003694	NCIT:C40086|DOID:5896|UMLS:C1518695	
MONDO:0003695	biolink:Disease	ovarian clear cell adenofibroma	An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma.	UMLS:C1518694|DOID:5897|NCIT:C40085	mondo.json	ovarian clear cell adenofibroma|clear cell adenofibroma of ovary|ovary clear cell adenofibroma	http://purl.obolibrary.org/obo/MONDO_0003695	NCIT:C40085|DOID:5897|UMLS:C1518694	
GO:1902644	biolink:NamedThing	tertiary alcohol metabolic process	The chemical reactions and pathways involving tertiary alcohol.		mondo.json	tertiary alcohol metabolism	http://purl.obolibrary.org/obo/GO_1902644		
UBERON:0036245	biolink:AnatomicalEntity	parenchyma of mammary gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036245		
MONDO:0001033	biolink:Disease	mycotic corneal ulcer		UMLS:C0155071|DOID:10440|SCTID:397977001|ICD9:370.05	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001033	DOID:10440|http://identifiers.org/snomedct/397977001|UMLS:C0155071	
UBERON:0036248	biolink:AnatomicalEntity	joint of auditory ossicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036248		
MONDO:0001032	biolink:Disease	Mooren ulcer		ICD9:370.07|UMLS:C0155072|DOID:10439|SCTID:22440001|Orphanet:519408	mondo.json	Mooren's ulcer	http://purl.obolibrary.org/obo/MONDO_0001032	UMLS:C0155072|Orphanet:519408|http://identifiers.org/snomedct/22440001|DOID:10439	ordo_disease
MONDO:0003690	biolink:Disease	adult anaplastic ependymoma	An anaplastic ependymoma occurring in adults.	UMLS:C0280787|NCIT:C8269|DOID:5890	mondo.json	anaplastic ependymoma|malignant adult ependymoma|adult malignant ependymoma|anaplastic ependymoma of adults|adult anaplastic ependymoma	http://purl.obolibrary.org/obo/MONDO_0003690	NCIT:C8269|DOID:5890|UMLS:C0280787	
MONDO:0001031	biolink:Disease	purulent acute otitis media	Acute form of suppurative otitis media.	SCTID:194281003|DOID:10435|ICD9:382.02|UMLS:C0271431	mondo.json	acute suppurative otitis media|suppurative otitis media, acute	http://purl.obolibrary.org/obo/MONDO_0001031	UMLS:C0271431|http://identifiers.org/snomedct/194281003|DOID:10435	
MONDO:0001030	biolink:Disease	keratoconus, stable condition		DOID:10428|SCTID:193844000|ICD9:371.61|UMLS:C0155131	mondo.json	stable condition keratoconus	http://purl.obolibrary.org/obo/MONDO_0001030	http://identifiers.org/snomedct/193844000|UMLS:C0155131|DOID:10428	
MONDO:0003691	biolink:Disease	childhood malignant mesenchymoma	A malignant mesenchymoma occurring in children.	DOID:5893|NCIT:C8097|UMLS:C0279991	mondo.json	childhood malignant mesenchymoma|malignant mesenchymoma|pediatric malignant mesenchymoma|malignant mesenchymoma of childhood	http://purl.obolibrary.org/obo/MONDO_0003691	UMLS:C0279991|NCIT:C8097|DOID:5893	
MONDO:0013004	biolink:Disease	hypotonia, seizures, and precocious puberty		OMIM:612777|UMLS:C2748586|MESH:C567566	mondo.json	hypotonia, seizures, and precocious puberty	http://purl.obolibrary.org/obo/MONDO_0013004	https://omim.org/entry/612777|http://identifiers.org/mesh/C567566|UMLS:C2748586	
CL:0002573	biolink:Cell	Schwann cell	A glial cell that ensheathes axons of neuron in the peripheral nervous system and are necessary for their maintainance and function.	CALOHA:TS-0898|BTO:0001220	mondo.json		http://purl.obolibrary.org/obo/CL_0002573		
MONDO:0015667	biolink:Disease	acute myeloid leukemia by FAB classification	Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme.	Orphanet:167714|NCIT:C27753|GARD:0012760	mondo.json	AML, NOS|acute myeloid leukemia not otherwise specified|acute myeloid leukemia, NOS|acute myeloid leukemia|unclassified AML|acute myeloid leukemia NOS|acute myeloid leukemia not otherwise categorized|unclassified acute myeloid leukemia	http://purl.obolibrary.org/obo/MONDO_0015667	NCIT:C27753|Orphanet:167714	gard_rare|disease_grouping|ordo_group_of_disorders
MONDO:0013005	biolink:Disease	EAST syndrome	SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).	DOID:0060484|OMIM:612780|UMLS:C2748572|GARD:0010514|Orphanet:199343|SCTID:721207002|MESH:C557674	mondo.json	epilepsy, ataxia, sensorineural deafness and tubulopathy|sesame syndrome|seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance|seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance|seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome|seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance|EAST syndrome|epilepsy, ataxia, sensorineural deafness, and tubulopathy|seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance|SESAMES|seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance	http://purl.obolibrary.org/obo/MONDO_0013005	Orphanet:199343|http://identifiers.org/snomedct/721207002|DOID:0060484|http://identifiers.org/mesh/C557674|https://omim.org/entry/612780|UMLS:C2748572	ordo_disease
MONDO:0015666	biolink:Disease	familial idiopathic dilatation of the right atrium	Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications.	SCTID:716773002|UMLS:CN200093|Orphanet:1677	mondo.json	familial idiopathic dilatation of the right atrium (disease)	http://purl.obolibrary.org/obo/MONDO_0015666	UMLS:CN200093|http://identifiers.org/snomedct/716773002|Orphanet:1677	ordo_morphological_anomaly
CL:0002572	biolink:Cell	vertebral mesenchymal stem cell	A mesenchymal stem cell of the vertebrae.		mondo.json		http://purl.obolibrary.org/obo/CL_0002572		
MONDO:0013002	biolink:Disease	cone-rod dystrophy 9	Any cone-rod dystrophy in which the cause of the disease is a mutation in the ADAM9 gene.	UMLS:C1423873|OMIM:612775|DOID:0111020	mondo.json	cone-rod dystrophy 9|CORD9|ADAM9 cone-rod dystrophy|cone-rod dystrophy caused by mutation in ADAM9|cone-rod dystrophy type 9	http://purl.obolibrary.org/obo/MONDO_0013002	https://omim.org/entry/612775|UMLS:C1423873|DOID:0111020	
MONDO:0015665	biolink:Disease	scleromyxedema	Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation.	UMLS:CN200092|SCTID:402468007|UMLS:C0263390|Orphanet:167635|MESH:D053718|MedDRA:10055046|NCIT:C85061|GARD:0007615|ICD9:701.8	mondo.json	lichen myxedematosus|generalized lichenoid papular eruption|generalized papular and sclerodermoid|Scleromyxedema|generalized papular and sclerodermoid lichen myxedematosus|Arndt-Gottron disease|myxedematosus, lichen|scleromyxoedema|papular mucinosis|mucinosis, papular	http://purl.obolibrary.org/obo/MONDO_0015665	http://identifiers.org/snomedct/402468007|Orphanet:167635|UMLS:CN200092|http://identifiers.org/mesh/D053718|UMLS:C0263390|NCIT:C85061	gard_rare|ordo_disease
CL:0002575	biolink:Cell	central nervous system pericyte	A pericyte of the central nervous system.		mondo.json		http://purl.obolibrary.org/obo/CL_0002575		
CL:0002574	biolink:Cell	stromal cell of pancreas	A stromal cell of the pancreas.		mondo.json		http://purl.obolibrary.org/obo/CL_0002574		
MONDO:0013003	biolink:Disease	isolated congenital hypoglossia/aglossia	Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS).	Orphanet:141152|UMLS:C2748587|OMIM:612776	mondo.json	hypoglossia with situs inversus|hypoglossia, isolated	http://purl.obolibrary.org/obo/MONDO_0013003	Orphanet:141152|https://omim.org/entry/612776|UMLS:C2748587	ordo_morphological_anomaly
MONDO:0015664	biolink:Disease	idiopathic pulmonary artery dilatation	Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases.	Orphanet:1676|GARD:0006757	mondo.json	idiopathic dilatation of the pulmonary artery	http://purl.obolibrary.org/obo/MONDO_0015664	Orphanet:1676	ordo_disease|gard_rare
MONDO:0013008	biolink:Disease	combined immunodeficiency due to STIM1 deficiency	Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.	OMIM:612783|UMLS:C2748557|MESH:C557827|GARD:0010523|Orphanet:317430	mondo.json	immunodeficiency 10|CID due to STIM1 deficiency|STIM1 deficiency|immune dysfunction with T-cell inactivation due to calcium entry defect 2|IMD10|immunodeficiency type 10	http://purl.obolibrary.org/obo/MONDO_0013008	http://identifiers.org/mesh/C557827|https://omim.org/entry/612783|Orphanet:317430|UMLS:C2748557	ordo_clinical_subtype
CL:0002577	biolink:Cell	placental epithelial cell	An epithelial cell of the placenta.		mondo.json		http://purl.obolibrary.org/obo/CL_0002577		
CL:1000143	biolink:Cell	lung goblet cell			mondo.json		http://purl.obolibrary.org/obo/CL_1000143		
MONDO:0013009	biolink:Disease	Megarbane-Jalkh syndrome		UMLS:C2748555|GARD:0010689|MESH:C548071|OMIM:612785	mondo.json	developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure|Megarbane Jalkh syndrome|Megarbane-Jalkh syndrome|developmental delay dysmorphic features neonatal spontaneous fractures wrinkled skin and hepatic failure	http://purl.obolibrary.org/obo/MONDO_0013009	UMLS:C2748555|https://omim.org/entry/612785|http://identifiers.org/mesh/C548071	gard_rare
CL:0002576	biolink:Cell	perineural cell	A myofibroblast that lies in the connective tissue of the spinal cord that has a distinctly lamellar arrangement.		mondo.json		http://purl.obolibrary.org/obo/CL_0002576		
HGNC:12449	biolink:NamedThing	TYROBP			mondo.json		http://identifiers.org/hgnc/12449		
MONDO:0013006	biolink:Disease	isolated growth hormone deficiency type IB	An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.	Orphanet:231671|GARD:0003919|OMIM:612781|UMLS:C2748571|DOID:0060874|MESH:C567564	mondo.json	IGHD 1B|congenital isolated GH deficiency type IB|isolated growth hormone deficiency type 1B|isolated growth hormone deficiency, type IB|IGHD IB|growth hormone deficiency, isolated, type IB|isolated Growth hormone deficiency, type 1B|congenital IGHD type IB|IGHD1B|dwarfism of Sindh|congenital isolated growth hormone deficiency type IB	http://purl.obolibrary.org/obo/MONDO_0013006	DOID:0060874|https://omim.org/entry/612781|Orphanet:231671|http://identifiers.org/mesh/C567564|UMLS:C2748571	ordo_clinical_subtype|gard_rare
MONDO:0015669	biolink:Disease	obsolete rare disease with dentinogenesis imperfecta		Orphanet:167762|UMLS:C0011436	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015669	Orphanet:167762	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0013007	biolink:Disease	combined immunodeficiency due to ORAI1 deficiency	A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.	OMIM:612782|Orphanet:317428|UMLS:C2748568|MESH:C557826|GARD:0010524	mondo.json	IMD9|CID due to ORAI1 deficiency|immune dysfunction with T-cell inactivation due to calcium entry defect 1|immunodeficiency 9|immunodeficiency type 9	http://purl.obolibrary.org/obo/MONDO_0013007	http://identifiers.org/mesh/C557826|https://omim.org/entry/612782|Orphanet:317428|UMLS:C2748568	ordo_clinical_subtype
MONDO:0015668	biolink:Disease	hereditary dentin defect	The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions.	Orphanet:167759	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015668	Orphanet:167759	ordo_group_of_disorders|disease_grouping
MONDO:0013000	biolink:Disease	porphyria due to ALA dehydratase deficiency	Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations.	NCIT:C133887|Orphanet:100924|OMIM:612740|GARD:0004445|MESH:C562618	mondo.json	porphyria due to ALA dehydratase deficiency|aminolevulinate dehydratase deficiency porphyria|porphyria, ALAD|acute hepatic porphyria|porphyria of Doss|ALAD deficiency|porphobilinogen synthase deficiency|porphyria due to delta-aminolevulinate dehydratase deficiency|Delta-aminolevulinate dehydratase deficiency|Doss porphyria|ALA dehydratase deficiency pophyria|5-aminolevulinic acid dehydratase deficiency porphyria|Lead poisoning, susceptibility to|ALAD porphyria|porphyria, acute hepatic|porphyria due to ALAD deficiency	http://purl.obolibrary.org/obo/MONDO_0013000	http://identifiers.org/mesh/C562618|https://omim.org/entry/612740|Orphanet:100924|NCIT:C133887	gard_rare|ordo_disease
MONDO:0015663	biolink:Disease	diencephalic syndrome	Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesias and euphoria, in the presence of hypothalamic tumors.	UMLS:C0342436|GARD:0006276|NCIT:C116955|ICD9:253.8|UMLS:CN200089|SCTID:237733001|UMLS:C0271889|Orphanet:1672	mondo.json	diencephalic syndrome of emaciation|Russell diencephalic cachexia|diencephalic cachexia|Russell syndrome|diencephalic syndrome of infancy|diencephalic syndrome of childhood	http://purl.obolibrary.org/obo/MONDO_0015663	UMLS:CN200089|UMLS:C0271889|Orphanet:1672|NCIT:C116955|UMLS:C0342436|http://identifiers.org/snomedct/237733001	gard_rare|ordo_disease
GO:0050891	biolink:NamedThing	multicellular organismal water homeostasis	Any process involved in the maintenance of an internal steady state of water within a tissue, organ, or a multicellular organism.		mondo.json	body fluid osmoregulation	http://purl.obolibrary.org/obo/GO_0050891		
HGNC:12442	biolink:NamedThing	TYR			mondo.json		http://identifiers.org/hgnc/12442		
MONDO:0013001	biolink:Disease	obsolete synesthesia		OMIM:612759|MESH:C562460	mondo.json	synesthesia|Synsth	http://purl.obolibrary.org/obo/MONDO_0013001	http://identifiers.org/mesh/C562460|https://omim.org/entry/612759	
GO:0050892	biolink:NamedThing	intestinal absorption	Any process in which nutrients are taken up from the contents of the intestine.		mondo.json		http://purl.obolibrary.org/obo/GO_0050892		
MONDO:0015662	biolink:Disease	obsolete hemorrhagic disorder due to an acquired coagulation factor defect		Orphanet:166775|UMLS:CN226721	mondo.json	rare bleeding disorder due to an acquired coagulation factor defect|rare coagulopathy due to an acquired coagulation factor defect	http://purl.obolibrary.org/obo/MONDO_0015662	Orphanet:166775|UMLS:CN226721	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0015661	biolink:Disease	dextrocardia	A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects.	GARD:0001827|MESH:D003914|ICD9:746.87|Orphanet:1666|SCTID:27637000|NCIT:C84669|MedDRA:10012592|HP:0001651|DOID:9565	mondo.json	heart predominantly in right hemithorax|dextrocardia|dextrocardia (disease)	http://purl.obolibrary.org/obo/MONDO_0015661	DOID:9565|NCIT:C84669|http://identifiers.org/mesh/D003914|Orphanet:1666|http://identifiers.org/snomedct/27637000	gard_rare|ordo_morphological_anomaly
HGNC:12440	biolink:NamedThing	TYK2			mondo.json		http://identifiers.org/hgnc/12440		
CL:0002571	biolink:Cell	hepatic mesenchymal stem cell	A mesenchymal stem cell of liver.		mondo.json		http://purl.obolibrary.org/obo/CL_0002571		
GO:0050890	biolink:NamedThing	cognition	The operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory.		mondo.json		http://purl.obolibrary.org/obo/GO_0050890		
MONDO:0015660	biolink:Disease	sporadic fetal brain disruption sequence	Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly.	UMLS:CN237425|Orphanet:1665|SCTID:763717004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015660	http://identifiers.org/snomedct/763717004|Orphanet:1665|UMLS:CN237425	ordo_malformation_syndrome
CL:0002570	biolink:Cell	mesenchymal stem cell of adipose tissue	A mesenchymal stem cell of adipose tissue.		mondo.json	mesenchymal stem cell of adipose	http://purl.obolibrary.org/obo/CL_0002570		
CHEBI:76924	biolink:ChemicalSubstance	plant metabolite	Any eukaryotic metabolite produced during a metabolic reaction in plants, the kingdom that include flowering plants, conifers and other gymnosperms.		mondo.json	plant secondary metabolites|plant metabolites	http://purl.obolibrary.org/obo/CHEBI_76924		
HP:0020129	biolink:PhenotypicFeature	Abnormal urine protein level	Any deviation of the concentration of one or more proteins in the urine.		mondo.json		http://purl.obolibrary.org/obo/HP_0020129		
UBERON:0012321	biolink:AnatomicalEntity	deep cervical artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012321		
UBERON:0012320	biolink:AnatomicalEntity	cervical artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012320		
UBERON:0012317	biolink:AnatomicalEntity	vagina orifice			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012317		
UBERON:0000344	biolink:AnatomicalEntity	mucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000344		
HGNC:12530	biolink:NamedThing	UGT1A1			mondo.json		http://identifiers.org/hgnc/12530		
UBERON:0000341	biolink:AnatomicalEntity	throat			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000341		
CHEBI:76932	biolink:ChemicalSubstance	pathway inhibitor	An enzyme inhibitor that interferes with one or more steps in a metabolic pathway.		mondo.json	pathway inhibitors|metabolic pathway inhibitors|metabolic pathway inhibitor	http://purl.obolibrary.org/obo/CHEBI_76932		
UBERON:0000325	biolink:AnatomicalEntity	gastric gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000325		
UBERON:0000326	biolink:AnatomicalEntity	pancreatic juice			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000326		
HGNC:24525	biolink:NamedThing	MMACHC			mondo.json		http://identifiers.org/hgnc/24525		
HGNC:24526	biolink:NamedThing	ATL3			mondo.json		http://identifiers.org/hgnc/24526		
UBERON:0000328	biolink:AnatomicalEntity	gut wall			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000328		
UBERON:0036301	biolink:AnatomicalEntity	vasculature of spleen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036301		
UBERON:0036300	biolink:AnatomicalEntity	tributary of central retinal vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036300		
UBERON:0036303	biolink:AnatomicalEntity	vasculature of central nervous system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036303		
UBERON:0012314	biolink:AnatomicalEntity	embryonic facial prominence			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012314		
UBERON:0036302	biolink:AnatomicalEntity	vasculature of central nervous system plus retina			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036302		
UBERON:0012313	biolink:AnatomicalEntity	1st arch maxillary ectoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012313		
CHEBI:25340	biolink:ChemicalSubstance	methylpyridines	Any member of the class of pyridines that carries at least one methyl substituent.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_25340		
UBERON:0036304	biolink:AnatomicalEntity	anatomical border			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036304		
CHEBI:37325	biolink:ChemicalSubstance	alloxazine			mondo.json	Alloxazin|alloxazine|benzo[g]pteridine-2,4(1H,3H)-dione	http://purl.obolibrary.org/obo/CHEBI_37325		
CHEBI:37326	biolink:ChemicalSubstance	benzo[g]pteridine-2,4-dione			mondo.json	benzo[g]pteridine-2,4-dione	http://purl.obolibrary.org/obo/CHEBI_37326		
CHEBI:37323	biolink:ChemicalSubstance	7,8-dimethylisoalloxazine	A 7,8-dimethylbenzo[g]pteridine-2,4-dione that is  isoalloxazine substituted by methyl groups at positions 7 and 8.		mondo.json	dimethylisoalloxazine|7,8-dimethylbenzo[g]pteridine-2,4(3H,10H)-dione	http://purl.obolibrary.org/obo/CHEBI_37323		
CHEBI:37324	biolink:ChemicalSubstance	7,8-dimethylbenzo[g]pteridine-2,4-dione			mondo.json	7,8-dimethylbenzo[g]pteridine-2,4-dione	http://purl.obolibrary.org/obo/CHEBI_37324		
CHEBI:37327	biolink:ChemicalSubstance	isoalloxazine			mondo.json	benzo[g]pteridine-2,4(3H,10H)-dione	http://purl.obolibrary.org/obo/CHEBI_37327		
UBERON:0000332	biolink:AnatomicalEntity	yellow bone marrow			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000332		
UBERON:0000333	biolink:AnatomicalEntity	intestinal gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000333		
HGNC:24519	biolink:NamedThing	TCTN3			mondo.json		http://identifiers.org/hgnc/24519		
UBERON:0000331	biolink:AnatomicalEntity	ileal mucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000331		
UBERON:0000314	biolink:AnatomicalEntity	cecum mucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000314		
UBERON:0000315	biolink:AnatomicalEntity	subarachnoid space			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000315		
CHEBI:76946	biolink:ChemicalSubstance	fungal metabolite	Any eukaryotic metabolite produced during a metabolic reaction in fungi, the kingdom that includes microorganisms such as the yeasts and moulds.		mondo.json	fungal metabolites	http://purl.obolibrary.org/obo/CHEBI_76946		
UBERON:0000316	biolink:AnatomicalEntity	cervical mucus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000316		
UBERON:0000317	biolink:AnatomicalEntity	colonic mucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000317		
HGNC:12509	biolink:NamedThing	UBQLN2			mondo.json		http://identifiers.org/hgnc/12509		
HP:0010783	biolink:PhenotypicFeature	Erythema	Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.	SNOMEDCT_US:444827008|MSH:D004890|SNOMEDCT_US:271811009|MSH:D005483|SNOMEDCT_US:20255002|UMLS:C0041834|SNOMEDCT_US:70819003|SNOMEDCT_US:238810007|SNOMEDCT_US:247441003|UMLS:C0016382|SNOMEDCT_US:86735004	mondo.json	Redness of skin or mucous membrane	http://purl.obolibrary.org/obo/HP_0010783		hposlim_core
UBERON:0012303	biolink:AnatomicalEntity	ureteral orifice			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012303		
HGNC:9647	biolink:NamedThing	PTPN14			mondo.json		http://identifiers.org/hgnc/9647		
HGNC:12513	biolink:NamedThing	UCHL1			mondo.json		http://identifiers.org/hgnc/12513		
UBERON:0000323	biolink:AnatomicalEntity	late embryo			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000323		
HGNC:9644	biolink:NamedThing	PTPN11			mondo.json		http://identifiers.org/hgnc/9644		
UBERON:0000320	biolink:AnatomicalEntity	duodenal mucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000320		
HGNC:9642	biolink:NamedThing	PTPN1			mondo.json		http://identifiers.org/hgnc/9642		
UBERON:0000307	biolink:AnatomicalEntity	blastula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000307		
ENVO:00002872	biolink:NamedThing	bagasse	The biomass remaining after sugarcane stalks are crushed to extract their juice.		mondo.json	sugarcane bagasse	http://purl.obolibrary.org/obo/ENVO_00002872		
HGNC:24502	biolink:NamedThing	WDR62			mondo.json		http://identifiers.org/hgnc/24502		
UBERON:0000309	biolink:AnatomicalEntity	body wall			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000309		
UBERON:0000304	biolink:AnatomicalEntity	tendon sheath			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000304		
UBERON:0000305	biolink:AnatomicalEntity	amnion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000305		
HGNC:12519	biolink:NamedThing	UCP3			mondo.json		http://identifiers.org/hgnc/12519		
HGNC:12517	biolink:NamedThing	UCP1			mondo.json		http://identifiers.org/hgnc/12517		
UBERON:0014950	biolink:AnatomicalEntity	layer of developing cerebral cortex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014950		
CL:1000223	biolink:Cell	lung neuroendocrine cell			mondo.json		http://purl.obolibrary.org/obo/CL_1000223		
CL:1000222	biolink:Cell	stomach neuroendocrine cell			mondo.json		http://purl.obolibrary.org/obo/CL_1000222		
HP:0009797	biolink:PhenotypicFeature	Cholesteatoma	Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.	SNOMEDCT_US:363668000|UMLS:C0008373|MSH:D002781|SNOMEDCT_US:575006	mondo.json		http://purl.obolibrary.org/obo/HP_0009797		
UBERON:0000310	biolink:AnatomicalEntity	breast			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000310		
UBERON:0000313	biolink:AnatomicalEntity	portion of cartilage tissue in tibia			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000313		
HGNC:9652	biolink:NamedThing	PTPN22			mondo.json		http://identifiers.org/hgnc/9652		
MONDO:0003502	biolink:Disease	ureter squamous cell carcinoma	A rare squamous cell carcinoma that arises from the ureter.	UMLS:C1336879|NCIT:C6154|DOID:5539	mondo.json	epidermoid carcinoma of ureter|epidermoid carcinoma of the ureter|ureteral epidermoid carcinoma|ureteral squamous cell carcinoma|squamous cell carcinoma of ureter|ureter squamous cell carcinoma|squamous cell carcinoma of the ureter|ureter epidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0003502	DOID:5539|NCIT:C6154|UMLS:C1336879	
MONDO:0003503	biolink:Disease	fallopian tube squamous cell carcinoma	A rare squamous cell carcinoma that arises from the fallopian tube.	DOID:5540|UMLS:C1333596|NCIT:C6282	mondo.json	fallopian tube squamous cell cancer|squamous cell carcinoma of fallopian tube|fallopian tube squamous cell carcinoma|squamous cell carcinoma of the fallopian tube	http://purl.obolibrary.org/obo/MONDO_0003503	DOID:5540|NCIT:C6282|UMLS:C1333596	
CHEBI:76967	biolink:ChemicalSubstance	human xenobiotic metabolite	Any human metabolite produced by metabolism of a xenobiotic compound in humans.		mondo.json	human xenobiotic metabolites	http://purl.obolibrary.org/obo/CHEBI_76967		
MONDO:0003504	biolink:Disease	anal canal neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the anal canal. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	DOID:5545|NCIT:C5603|SCTID:717917007	mondo.json	anal canal NET|anal neuroendocrine tumor|anal neuroendocrine neoplasm|anal canal neuroendocrine tumor|neuroendocrine neoplasm of anus|anal canal neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of the anus|anus neuroendocrine tumor|anal canal neuroendocrine neoplasm|anus neuroendocrine neoplasm|neuroendocrine neoplasm of anal canal|neuroendocrine tumor of anus	http://purl.obolibrary.org/obo/MONDO_0003504	DOID:5545|http://identifiers.org/snomedct/717917007|NCIT:C5603	
MONDO:0003505	biolink:Disease	femoral cancer	A cancer involving a femur.	EFO:0007270|DOID:5546|SCTID:126583006|MESH:D005266	mondo.json	malignant neoplasm of femur|neoplasm of femur|femoral neoplasm|cancer of femur|femur cancer|malignant femur neoplasm	http://purl.obolibrary.org/obo/MONDO_0003505	DOID:5546|http://identifiers.org/mesh/D005266	
CHEBI:27958	biolink:ChemicalSubstance	cocaine	A tropane alkaloid obtained from leaves of the South American shrub Erythroxylon coca.		mondo.json	l-Cocain|Cocain|Kokain|2-methyl-3beta-hydroxy-1alphaH,5alphaH-tropane-2beta-carboxylate benzoate (ester)|(-)-cocaine|beta-Cocain|COCAINE|Cocaine|Benzoylmethylecgonine|methyl benzoylecgonine|[1R-(exo,exo)]-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylic acid, methyl ester|cocainum|Neurocaine|(1R,2R,3S,5S)-2-(methoxycarbonyl)tropan-3-yl benzoate|l-cocaine|methyl (1R,2R,3S,5S)-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylate|methyl [1R-(exo,exo)]-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylate|Cocaina	http://purl.obolibrary.org/obo/CHEBI_27958		
UBERON:0012361	biolink:AnatomicalEntity	internal anal region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012361		
UBERON:0012360	biolink:AnatomicalEntity	bone of jaw			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012360		
MONDO:0003500	biolink:Disease	squamous cell bile duct carcinoma	A squamous cell carcinoma that involves the bile duct.	UMLS:C0861861|NCIT:C5777|DOID:5537	mondo.json	bile duct squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003500	DOID:5537|UMLS:C0861861	
CHEBI:76969	biolink:ChemicalSubstance	bacterial metabolite	Any prokaryotic metabolite produced during a metabolic reaction in bacteria.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_76969		
MONDO:0003501	biolink:Disease	external ear squamous cell carcinoma	A squamous cell carcinoma that arises from the skin of the external ear.	UMLS:C1333494|NCIT:C6083|DOID:5538	mondo.json	epidermoid carcinoma of the external ear|epidermoid carcinoma of external Ear|external Ear squamous cell carcinoma|external ear squamous cell carcinoma|epidermoid carcinoma of the external Ear|squamous cell carcinoma of external Ear|squamous cell carcinoma of external ear|squamous cell carcinoma of the external Ear|external Ear epidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0003501	DOID:5538|NCIT:C6083|UMLS:C1333494	
UBERON:0012363	biolink:AnatomicalEntity	thyroid follicle epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012363		
UBERON:0012367	biolink:AnatomicalEntity	muscle layer of intestine			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012367		
CHEBI:15966	biolink:ChemicalSubstance	D-glutamic acid	An optically active form of glutamic acid having D-configuration.		mondo.json	D-glutamic acid|D-Glutaminsaeure|D-Glutamic acid|glutamic acid D-form|DGL|D-Glutaminic acid|D-2-Aminoglutaric acid|(2R)-2-aminopentanedioic acid|(R)-2-aminopentanedioic acid	http://purl.obolibrary.org/obo/CHEBI_15966		
UBERON:0012359	biolink:AnatomicalEntity	pedal digitopodium bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012359		
UBERON:0000382	biolink:AnatomicalEntity	apocrine sweat gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000382		
UBERON:0000388	biolink:AnatomicalEntity	epiglottis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000388		
UBERON:0000389	biolink:AnatomicalEntity	lens cortex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000389		
OBO:ECTO_9002148	biolink:NamedThing	exposure to polycyclic hydrocarbon	An exposure to polycyclic hydrocarbon.		mondo.json	exposure to polycyclic hydrocarbon	http://purl.obolibrary.org/obo/ECTO_9002148		
UBERON:0000383	biolink:AnatomicalEntity	musculature of body			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000383		
HGNC:7001	biolink:NamedThing	MEIS2			mondo.json		http://identifiers.org/hgnc/7001		
HGNC:9666	biolink:NamedThing	PTPRC			mondo.json		http://identifiers.org/hgnc/9666		
OBO:ECTO_9002146	biolink:NamedThing	exposure to acids	An exposure to acid.		mondo.json	exposure to acid	http://purl.obolibrary.org/obo/ECTO_9002146		
MONDO:0003513	biolink:Disease	gastric teratoma	A mature or immature teratoma that arises from the stomach.	NCIT:C5259|UMLS:C1333790|DOID:5561	mondo.json	teratoma of stomach|stomach teratoma|teratoma of the stomach|gastric teratoma	http://purl.obolibrary.org/obo/MONDO_0003513	NCIT:C5259|UMLS:C1333790|DOID:5561	
MONDO:0003514	biolink:Disease	malignant teratoma	A malignant form of teratoma.	NCIT:C4287|UMLS:C0855163|NCIT:C4286|DOID:5563|NCIT:C8884	mondo.json	malignant extragonadal teratoma|teratoma, malignant	http://purl.obolibrary.org/obo/MONDO_0003514	DOID:5563|NCIT:C4287	
MONDO:0003515	biolink:Disease	fallopian tube teratoma	A teratoma that arises from the fallopian tube. It is a rare tumor, often found incidentally.	DOID:5564|UMLS:C1517127|NCIT:C40131	mondo.json	fallopian tube teratoma	http://purl.obolibrary.org/obo/MONDO_0003515	DOID:5564|UMLS:C1517127|NCIT:C40131	
MONDO:0003516	biolink:Disease	adult teratoma	A teratoma that occurs in an adult.	NCIT:C9013|DOID:5565|UMLS:C1368898	mondo.json	teratoma of adults|adult teratoma|teratoma	http://purl.obolibrary.org/obo/MONDO_0003516	DOID:5565|UMLS:C1368898|NCIT:C9013	
MONDO:0003510	biolink:Disease	malignant testicular germ cell tumor	A malignant tumor predominantly affecting young men and often associated with cryptorchidism. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor.	DOID:5556|UMLS:C0855197|NCIT:C9063|SCTID:713646001|ICD9:186.9	mondo.json	malignant germ cell tumor of testis|malignant testicular germ cell neoplasm|testicular malignant germ cell cancer|testicular ca. (no germ/tropho.)|malignant germ cell neoplasm of testis|testicular germ cell cancer|malignant germ cell neoplasm of the testis|testicular cancer|malignant testicular germ cell tumor|testicular cancer (excluding germ cell or trophoblastic cancer)|malignant germ cell tumor of the testis	http://purl.obolibrary.org/obo/MONDO_0003510	NCIT:C9063|DOID:5556|UMLS:C0855197|http://identifiers.org/snomedct/713646001	
MONDO:0003511	biolink:Disease	obsolete testicular germ cell cancer			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003511		
MONDO:0003512	biolink:Disease	mediastinal mesenchymal tumor	A benign or malignant soft tissue neoplasm of the mediastinum. Representative examples of benign mediastinal soft tissue neoplasms include chondroma, leiomyoma, lipoma, and rhabdomyoma. Representative examples of malignant mediastinal soft tissue neoplasms include angiosarcoma, leiomyosarcoma, liposarcoma, osteosarcoma, rhabdomyosarcoma, and synovial sarcoma.	DOID:5560|NCIT:C6637|UMLS:C1334669	mondo.json	mediastinal soft tissue neoplasm|soft tissue tumor of mediastinum|soft tissue tumor of the mediastinum|mediastinal soft tissue tumor|soft tissue neoplasm of the mediastinum|soft tissue neoplasm of mediastinum	http://purl.obolibrary.org/obo/MONDO_0003512	NCIT:C6637|UMLS:C1334669|DOID:5560	
UBERON:0012354	biolink:AnatomicalEntity	acropodium region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012354		
UBERON:0012353	biolink:AnatomicalEntity	fin skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012353		
UBERON:0012351	biolink:AnatomicalEntity	urachal lumen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012351		
UBERON:0012358	biolink:AnatomicalEntity	manual digitopodium bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012358		
UBERON:0012357	biolink:AnatomicalEntity	digitopodium bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012357		
UBERON:0012356	biolink:AnatomicalEntity	pedal acropodium region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012356		
UBERON:0012355	biolink:AnatomicalEntity	manual acropodium region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012355		
HGNC:9678	biolink:NamedThing	PTPRO			mondo.json		http://identifiers.org/hgnc/9678		
CHEBI:64996	biolink:ChemicalSubstance	EC 1.13.11.33 (arachidonate 15-lipoxygenase) inhibitor	A lipoxygenase inhibitor that interferes with the action of arachidonate 15-lipoxygenase (EC 1.13.11.33).		mondo.json	linoleic acid omega(6)-lipoxygenase inhibitors|linoleic acid omega(6)-lipoxygenase inhibitor|EC 1.13.11.33 inhibitors|arachidonate:oxygen 15-oxidoreductase inhibitors|15-LOX inhibitor|arachidonate 15-lipoxygenase inhibitor|arachidonate 15-lipoxygenase (EC 1.13.11.33) inhibitor|EC 1.13.11.33 (arachidonate 15-lipoxygenase) inhibitors|omega(6) lipoxygenase inhibitors|15-lipoxygenase inhibitor|15-lipoxygenase inhibitors|omega(6) lipoxygenase inhibitor|arachidonate:oxygen 15-oxidoreductase inhibitor|15-LOX inhibitors|arachidonate 15-lipoxygenase (EC 1.13.11.33) inhibitors|arachidonate 15-lipoxygenase inhibitors|EC 1.13.11.33 inhibitor	http://purl.obolibrary.org/obo/CHEBI_64996		
CHEBI:15956	biolink:ChemicalSubstance	biotin	An organic heterobicyclic compound that consists of 2-oxohexahydro-1H-thieno[3,4-d]imidazole having a valeric acid substituent attached to the tetrahydrothiophene ring. The parent of the class of biotins.		mondo.json	cis-Tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid|D-(+)-biotin|biotin|biotina|cis-Hexahydro-2-oxo-1H-thieno(3,4)imidazole-4-valeric acid|5-(2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl)pentanoic acid|Coenzyme R|(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid|5-[(3aS,4S,6aR)-2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl]pentanoic acid|(3aS,4S,6aR)-Hexahydro-2-oxo-1H-thieno[3,4-d]imidazole-4-valeric acid|Vitamin H|D-Biotin|cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valeric acid|biotinum|BIOTIN|biotine|vitamin B7	http://purl.obolibrary.org/obo/CHEBI_15956		
HGNC:9679	biolink:NamedThing	PTPRQ			mondo.json		http://identifiers.org/hgnc/9679		
HGNC:12502	biolink:NamedThing	SUMO1			mondo.json		http://identifiers.org/hgnc/12502		
UBERON:0000376	biolink:AnatomicalEntity	hindlimb stylopod			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000376		
NCBITaxon:120793	biolink:OrganismalEntity	Mycobacterium avium complex (MAC)		GC_ID:11|PMID:30231956|PMID:9103630|PMID:1581195|PMID:8347508	mondo.json	MAC	http://purl.obolibrary.org/obo/NCBITaxon_120793		
UBERON:0000377	biolink:AnatomicalEntity	maxillary nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000377		
UBERON:0000378	biolink:AnatomicalEntity	tongue muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000378		
HGNC:9670	biolink:NamedThing	PTPRF			mondo.json		http://identifiers.org/hgnc/9670		
HGNC:7010	biolink:NamedThing	MEN1			mondo.json		http://identifiers.org/hgnc/7010		
UBERON:0000379	biolink:AnatomicalEntity	tracheal mucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000379		
MONDO:0003506	biolink:Disease	pulmonary artery choriocarcinoma	A rare choriocarcinoma that arises from a pulmonary artery.	DOID:5547|NCIT:C5381|UMLS:C1335571	mondo.json	choriocarcinoma of pulmonary artery|choriocarcinoma of the pulmonary artery|syncytioma of pulmonary artery|pulmonary artery choriocarcinoma (disease)|syncytioma of the pulmonary artery|pulmonary artery chorioepithelioma|pulmonary artery syncytioma|pulmonary artery choriocarcinoma|chorioepithelioma of pulmonary artery|chorioepithelioma of the pulmonary artery	http://purl.obolibrary.org/obo/MONDO_0003506	DOID:5547|NCIT:C5381|UMLS:C1335571	
HGNC:7013	biolink:NamedThing	MEOX1			mondo.json		http://identifiers.org/hgnc/7013		
MONDO:0003507	biolink:Disease	choriocarcinoma of ovary	A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma.	SCTID:254870004|UMLS:C0346181|NCIT:C4515|DOID:5550|EFO:1000413	mondo.json	ovarian choriocarcinoma|germ cell choriocarcinoma of the ovary|germ cell choriocarcinoma of ovary|ovarian germ cell choriocarcinoma|choriocarcinoma of the ovary|choriocarcinoma of ovary|ovary choriocarcinoma (disease)	http://purl.obolibrary.org/obo/MONDO_0003507	DOID:5550|NCIT:C4515|UMLS:C0346181|http://identifiers.org/snomedct/254870004	
MONDO:0003508	biolink:Disease	choriocarcinoma of testis	A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts.	EFO:1000564|UMLS:C0238449|NCIT:C7733|DOID:5551|ONCOTREE:TCCA	mondo.json	testicular choriocarcinoma|choriocarcinoma|choriocarcinoma of testis|choriocarcinoma of the testis|testis choriocarcinoma (disease)	http://purl.obolibrary.org/obo/MONDO_0003508	UMLS:C0238449|DOID:5551|NCIT:C7733	
CHEBI:76971	biolink:ChemicalSubstance	Escherichia coli metabolite	Any bacterial metabolite produced during a metabolic reaction in Escherichia coli.		mondo.json	Escherichia coli metabolites|E.coli metabolites|E.coli metabolite	http://purl.obolibrary.org/obo/CHEBI_76971		
MONDO:0003509	biolink:Disease	pineal region choriocarcinoma	A choriocarcinoma (disease) that involves the pineal body.	DOID:5553|UMLS:C1335414|NCIT:C6759	mondo.json	choriocarcinoma of the pineal region|choriocarcinoma of pineal region|choriocarcinoma of the pineal area|choriocarcinoma of pineal area|pineal choriocarcinoma|pineal area choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003509	DOID:5553|NCIT:C6759|UMLS:C1335414	
UBERON:0000375	biolink:AnatomicalEntity	mandibular nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000375		
CHEBI:27933	biolink:ChemicalSubstance	beta-lactam antibiotic	An organonitrogen heterocyclic antibiotic that contains a beta-lactam ring.		mondo.json	beta-lactam antibiotics|beta-Lactam antibiotics	http://purl.obolibrary.org/obo/CHEBI_27933		
UBERON:0000358	biolink:AnatomicalEntity	blastocyst			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000358		
OBO:ECTO_9002130	biolink:NamedThing	exposure to food preservative	An exposure to food preservative.		mondo.json	exposure to food preservative	http://purl.obolibrary.org/obo/ECTO_9002130		
UBERON:0012344	biolink:AnatomicalEntity	holocrine gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012344		
HGNC:7027	biolink:NamedThing	MERTK			mondo.json		http://identifiers.org/hgnc/7027		
HGNC:9689	biolink:NamedThing	PTS			mondo.json		http://identifiers.org/hgnc/9689		
HGNC:7029	biolink:NamedThing	MET			mondo.json		http://identifiers.org/hgnc/7029		
UBERON:0012337	biolink:AnatomicalEntity	cauda equina			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012337		
UBERON:0000365	biolink:AnatomicalEntity	urothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000365		
UBERON:0000366	biolink:AnatomicalEntity	flexor muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000366		
UBERON:0000361	biolink:AnatomicalEntity	red bone marrow			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000361		
UBERON:0000362	biolink:AnatomicalEntity	renal medulla			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000362		
HGNC:9688	biolink:NamedThing	CAVIN1			mondo.json		http://identifiers.org/hgnc/9688		
HGNC:9685	biolink:NamedThing	PTPRZ1			mondo.json		http://identifiers.org/hgnc/9685		
UBERON:0000348	biolink:AnatomicalEntity	ophthalmic nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000348		
UBERON:0000349	biolink:AnatomicalEntity	limbic system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000349		
UBERON:0012332	biolink:AnatomicalEntity	broad ligament of uterus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012332		
HP:0032101	biolink:PhenotypicFeature	Unusual infection	A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections.		mondo.json		http://purl.obolibrary.org/obo/HP_0032101		
UBERON:0012330	biolink:AnatomicalEntity	nasal-associated lymphoid tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012330		
UBERON:0012336	biolink:AnatomicalEntity	perianal skin			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012336		
UBERON:0012329	biolink:AnatomicalEntity	keratinized stratified squamous epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012329		
UBERON:0000355	biolink:AnatomicalEntity	pharyngeal mucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000355		
OBO:ECTO_9002131	biolink:NamedThing	exposure to flame retardant	An exposure to flame retardant.		mondo.json	exposure to flame retardant	http://purl.obolibrary.org/obo/ECTO_9002131		
UBERON:0000351	biolink:AnatomicalEntity	nuchal ligament			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000351		
UBERON:0000353	biolink:AnatomicalEntity	parenchyma			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000353		
UBERON:0002916	biolink:AnatomicalEntity	central sulcus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002916		
CHEBI:37395	biolink:ChemicalSubstance	mucopolysaccharide	Any of the group of polysaccharides composed of alternating units from uronic acids and glycosamines, and commonly partially esterified with sulfuric acid.		mondo.json	mucopolysaccharides|Mucopolysaccharid|mucopolisacaridos|Mucopolysaccharide|mucopolisacarido|Mukopolysaccharid	http://purl.obolibrary.org/obo/CHEBI_37395		
CHEBI:37397	biolink:ChemicalSubstance	chondroitin sulfate	Any of a class of 10--60 kDa glycosaminoglycan sulfates, widely distributed in cartilage and other mammalian connective tissues.		mondo.json	Chondroitinsulfat|Chondroitin sulfate|chondroitin polysulfate|chondroitin sulfuric acid|chondroitin sulphate|chondroitin sulfates	http://purl.obolibrary.org/obo/CHEBI_37397		
ENVO:01000703	biolink:NamedThing	hydrological precipitation process	Hydrological precipitation is a process during which any product of the condensation of atmospheric water vapour is pulled to the planetary surface by gravity.		mondo.json	precipitation	http://purl.obolibrary.org/obo/ENVO_01000703		
HP:0010719	biolink:PhenotypicFeature	Abnormality of hair texture	An abnormality of the texture of the hair.	UMLS:C4073290|UMLS:C4072881|UMLS:C4023722|UMLS:C4072880	mondo.json	Abnormality of hair curl pattern|Abnormality of hair volume|Abnormality of hair consistency|Abnormality of hair texture	http://purl.obolibrary.org/obo/HP_0010719		
NCBITaxon:1485	biolink:OrganismalEntity	Clostridium		PMID:27488356|GC_ID:11|PMID:26643615	mondo.json	Anaerobacter	http://purl.obolibrary.org/obo/NCBITaxon_1485		
ENVO:01000739	biolink:NamedThing	habitat	An environmental system which can sustain and allow the growth of an ecological population.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000739		
HP:0010702	biolink:PhenotypicFeature	Increased circulating antibody level	An increased level of gamma globulin (immunoglobulin) in the blood.	MSH:D006942|UMLS:C0541985|SNOMEDCT_US:129646001|UMLS:C1306857|SNOMEDCT_US:127388009|UMLS:C2048011|UMLS:C0151669|UMLS:C0020455	mondo.json	Increased gamma globulin|Increased antibody level in blood|Elevated immunoglobulin levels|Raised immunoglobulin levels|Increased serum gamma globulin|Increased immunoglobulin level|Hypergammaglobulinaemia|Hyperglobulinemia|Hypergammaglobulinemia	http://purl.obolibrary.org/obo/HP_0010702		
HP:0010701	biolink:PhenotypicFeature	Abnormal immunoglobulin level	An abnormal deviation from normal levels of immunoglobulins in blood.	UMLS:C1855755	mondo.json	Abnormal serum immunoglobulin levels|Abnormal serum immunoglobulin concentration|Abnormal serum level of immunoglobulin|Immunoglobulin abnormality|Abnormal immunoglobulin concentration	http://purl.obolibrary.org/obo/HP_0010701		
NCBITaxon:1491	biolink:OrganismalEntity	Clostridium botulinum		PMID:15244052|PMID:10028279|GC_ID:11	mondo.json	Clostridium putrificum|Pacinia putrifica|Botulobacillus botulinus|Bacillus putrificus|Bacillus botulinus|Ermengemillus botulinus	http://purl.obolibrary.org/obo/NCBITaxon_1491		
ENVO:01000724	biolink:NamedThing	condensation process	Condensation is a process during which a gas undergoes a phase transition into a liquid.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000724		
NCBITaxon:1496	biolink:OrganismalEntity	Clostridioides difficile		PMID:23834245|PMID:27902176|GC_ID:11|PMID:27370902	mondo.json	Clostridium difficile|Bacillus difficilis|Peptoclostridium difficile	http://purl.obolibrary.org/obo/NCBITaxon_1496		
ENVO:01000726	biolink:NamedThing	desublimation process	Desublimation is a process in which a portion of some gas undergoes a phase transition into a portion of some solid.		mondo.json	deposition	http://purl.obolibrary.org/obo/ENVO_01000726		
HP:0009714	biolink:PhenotypicFeature	Abnormality of the epididymis	An abnormality of the epididymis.	UMLS:C4024222	mondo.json		http://purl.obolibrary.org/obo/HP_0009714		
CHEBI:50336	biolink:ChemicalSubstance	4-hydroxybenzyl group			mondo.json	4-hydroxybenzyl|tyrosine side-chain	http://purl.obolibrary.org/obo/CHEBI_50336		
CHEBI:50334	biolink:ChemicalSubstance	pyridinium ion			mondo.json	pyridinium ions	http://purl.obolibrary.org/obo/CHEBI_50334		
UBERON:0002956	biolink:AnatomicalEntity	granular layer of cerebellar cortex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002956		
HP:0010762	biolink:PhenotypicFeature	Chordoma	A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis.	SNOMEDCT_US:50007008|MSH:D002817|NCIT:C2947|UMLS:C0008487	mondo.json		http://purl.obolibrary.org/obo/HP_0010762		
HP:0010766	biolink:PhenotypicFeature	Ectopic calcification	Deposition of calcium salts in a tissue or location in which calcification does not normally occur.	UMLS:C3806226	mondo.json		http://purl.obolibrary.org/obo/HP_0010766		
HP:0010765	biolink:PhenotypicFeature	Palmar hyperkeratosis	Abnormal thickening of the skin localized to the palm of the hand.	UMLS:C4023710	mondo.json		http://purl.obolibrary.org/obo/HP_0010765		
HP:0009763	biolink:PhenotypicFeature	Limb pain	Chronic pain in the limbs with no clear focal etiology.	UMLS:C0030196|SNOMEDCT_US:90834002	mondo.json	Pain in extremities|Limb pain	http://purl.obolibrary.org/obo/HP_0009763		
UBERON:0000301	biolink:AnatomicalEntity	amniotic cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000301		
CHEBI:64909	biolink:ChemicalSubstance	poison	Any substance that causes disturbance to organisms by chemical reaction or other activity on the molecular scale, when a sufficient quantity is absorbed by the organism.		mondo.json	toxic substances|toxic agent|poisons|poisonous agent|poisonous agents|toxic substance|toxic agents|poisonous substance|poisonous substances	http://purl.obolibrary.org/obo/CHEBI_64909		
CHEBI:50325	biolink:ChemicalSubstance	proteinogenic amino-acid side-chain group	A univalent organyl group obtained by cleaving the bond from C-2 to the side chain of a proteinogenic amino-acid.		mondo.json	canonical amino-acid side-chains|proteinogenic amino-acid side-chain|proteinogenic amino-acid side-chain groups|proteinogenic amino-acid side-chains|canonical amino-acid side-chain	http://purl.obolibrary.org/obo/CHEBI_50325		
CHEBI:25389	biolink:ChemicalSubstance	monohydroxybenzoic acid	Any hydroxybenzoic acid having a single phenolic hydroxy substituent on the benzene ring.		mondo.json	monohydroxybenzoic acids	http://purl.obolibrary.org/obo/CHEBI_25389		
CHEBI:25388	biolink:ChemicalSubstance	monohydroxybenzoate	A hydroxybenzoate carrying a single hydroxy substituent at unspecified position.		mondo.json	monohydroxybenzoates	http://purl.obolibrary.org/obo/CHEBI_25388		
CHEBI:50329	biolink:ChemicalSubstance	2-carboxyethyl group			mondo.json	2-carboxyethyl|glutamic acid side-chain	http://purl.obolibrary.org/obo/CHEBI_50329		
UBERON:0014930	biolink:AnatomicalEntity	perivascular space			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014930		
CHEBI:25384	biolink:ChemicalSubstance	monocarboxylic acid	An oxoacid containing a single carboxy group.		mondo.json	monocarboxylic acids	http://purl.obolibrary.org/obo/CHEBI_25384		
CHEBI:64911	biolink:ChemicalSubstance	antimitotic	Any compound that inhibits cell division (mitosis).		mondo.json	mitosis inhibitors|mitotic inhibitors|mitotic inhibitor|mitosis inhibitor|antimitotics	http://purl.obolibrary.org/obo/CHEBI_64911		
CHR:9606-chrXp22.13-p22.2	biolink:NamedThing	Xp22.13-p22.2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chrXp22.13-p22.2		
CHEBI:50313	biolink:ChemicalSubstance	onium cation	Mononuclear cations derived by addition of a hydron to a mononuclear parent hydride of the pnictogen, chalcogen and halogen families.		mondo.json	onium ion|onium ions|onium cations|onium cations	http://purl.obolibrary.org/obo/CHEBI_50313		
CHEBI:50312	biolink:ChemicalSubstance	onium compound			mondo.json		http://purl.obolibrary.org/obo/CHEBI_50312		
CHEBI:25355	biolink:ChemicalSubstance	mitochondrial respiratory-chain inhibitor			mondo.json	mitochondrial respiratory chain inhibitors|mitochondrial electron-transport chain inhibitor|mitochondrial electron transport chain inhibitors	http://purl.obolibrary.org/obo/CHEBI_25355		
UBERON:2007013	biolink:AnatomicalEntity	preplacodal ectoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_2007013		
CHEBI:50315	biolink:ChemicalSubstance	chloronium			mondo.json	chloranium|chloronium|[ClH2](+)|H2Cl(+)	http://purl.obolibrary.org/obo/CHEBI_50315		
CHEBI:76907	biolink:ChemicalSubstance	EC 4.2.1.* (hydro-lyases) inhibitor	An EC 4.2.* (C-O lyase) inhibitor that interferes with the action of any hydro-lyase (EC 4.2.1.*).		mondo.json	EC 4.2.1.* (hydro-lyases) inhibitors|EC 4.2.1.* (hydro-lyase) inhibitor|hydro-lyase (EC 4.2.1.*) inhibitors|EC 4.2.1.* inhibitors|EC 4.2.1.* inhibitor|hydro-lyase (EC 4.2.1.*) inhibitor|EC 4.2.1.* (hydro-lyase) inhibitors	http://purl.obolibrary.org/obo/CHEBI_76907		
HGNC:9603	biolink:NamedThing	PTGIS			mondo.json		http://identifiers.org/hgnc/9603		
HGNC:9607	biolink:NamedThing	PTHLH			mondo.json		http://identifiers.org/hgnc/9607		
HGNC:9608	biolink:NamedThing	PTH1R			mondo.json		http://identifiers.org/hgnc/9608		
HGNC:9606	biolink:NamedThing	PTH			mondo.json		http://identifiers.org/hgnc/9606		
HP:0009743	biolink:PhenotypicFeature	Distichiasis	Double rows of eyelashes.	SNOMEDCT_US:95339000|UMLS:C0423848	mondo.json	Distichiasis of eyelid eyelashes	http://purl.obolibrary.org/obo/HP_0009743		hposlim_core
CHEBI:37332	biolink:ChemicalSubstance	tropane alkaloid			mondo.json	tropane alkaloids	http://purl.obolibrary.org/obo/CHEBI_37332		
UBERON:0002926	biolink:AnatomicalEntity	gustatory epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002926		
UBERON:0002925	biolink:AnatomicalEntity	trigeminal nucleus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002925		
CHEBI:25367	biolink:ChemicalSubstance	molecule	Any polyatomic entity that is an electrically neutral entity consisting of more than one atom.		mondo.json	molecula|neutral molecular compounds|molecules|Molekuel|molecule	http://purl.obolibrary.org/obo/CHEBI_25367		
UBERON:0002928	biolink:AnatomicalEntity	dentate gyrus polymorphic layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002928		
UBERON:0002921	biolink:AnatomicalEntity	longitudinal fissure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002921		
CHEBI:25362	biolink:ChemicalSubstance	elemental molecule	A molecule all atoms of which have the same atomic number.		mondo.json	homoatomic molecule|homoatomic molecules	http://purl.obolibrary.org/obo/CHEBI_25362		
NCBITaxon:418107	biolink:OrganismalEntity	Plasmodium (Laverania)		GC_ID:1	mondo.json	Laverania	http://purl.obolibrary.org/obo/NCBITaxon_418107		
UBERON:0014907	biolink:AnatomicalEntity	intersomitic vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014907		
NCBITaxon:418103	biolink:OrganismalEntity	Plasmodium (Plasmodium)		GC_ID:1	mondo.json	Plasmodium	http://purl.obolibrary.org/obo/NCBITaxon_418103		
HP:0010732	biolink:PhenotypicFeature	Nodular changes affecting the eyelids	Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more.	UMLS:C4023716	mondo.json	Eyelid nodules	http://purl.obolibrary.org/obo/HP_0010732		
UBERON:0014903	biolink:AnatomicalEntity	primordial vasculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014903		
HP:0009755	biolink:PhenotypicFeature	Ankyloblepharon	Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.	SNOMEDCT_US:400952003|UMLS:C0339182|SNOMEDCT_US:193953008|MSH:C536373|UMLS:C1302999	mondo.json	Ankyloblepharon filiforme adnatum|Eyelids stuck together|Adhesion of eyelids|Eyelid synechiae	http://purl.obolibrary.org/obo/HP_0009755		hposlim_core
UBERON:0014908	biolink:AnatomicalEntity	cerebellopontine angle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014908		
GO:0072330	biolink:NamedThing	monocarboxylic acid biosynthetic process	The chemical reactions and pathways resulting in the formation of monocarboxylic acids, any organic acid containing one carboxyl (-COOH) group.		mondo.json	monocarboxylic acid anabolism|monocarboxylic acid synthesis|monocarboxylic acid formation|monocarboxylic acid biosynthesis	http://purl.obolibrary.org/obo/GO_0072330		
GO:0098962	biolink:NamedThing	regulation of postsynaptic neurotransmitter receptor activity	Any process that modulates the frequency, rate or extent of neurotransmitter receptor activity involved in synaptic transmission. Modulation may be via an effect on ligand affinity, or effector funtion such as ion selectivity or pore opening/closing in ionotropic receptors.		mondo.json		http://purl.obolibrary.org/obo/GO_0098962		
GO:0098960	biolink:NamedThing	postsynaptic neurotransmitter receptor activity	Neurotransmitter receptor activity occuring in the postsynaptic membrane during synaptic transmission.		mondo.json	neurotransmitter receptor activity involved in chemical synaptic transmission	http://purl.obolibrary.org/obo/GO_0098960		
ENVO:01000676	biolink:NamedThing	contaminated air	Contaminated air is air which has sufficient concentrations of environmental pollutants such that it may adversely affect a given ecosystem.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000676		
CL:0002427	biolink:Cell	resting double-positive thymocyte	A double-positive, alpha-beta thymocyte that is small and not proliferating.		mondo.json	T.DP.sm.Th	http://purl.obolibrary.org/obo/CL_0002427		
GO:1902533	biolink:NamedThing	positive regulation of intracellular signal transduction	Any process that activates or increases the frequency, rate or extent of intracellular signal transduction.		mondo.json	positive regulation of intracellular signaling cascade|upregulation of signal transduction via intracellular signaling cascade|up regulation of intracellular signal transduction|up-regulation of signal transmission via intracellular cascade|activation of signal transduction via intracellular signaling cascade|upregulation of intracellular signaling chain|up regulation of intracellular signal transduction pathway|activation of intracellular signal transduction|positive regulation of intracellular signal transduction pathway|up regulation of signal transmission via intracellular cascade|upregulation of intracellular signaling cascade|up-regulation of intracellular signaling pathway|positive regulation of signal transmission via intracellular cascade|upregulation of intracellular signal transduction|up-regulation of signal transduction via intracellular signaling cascade|up regulation of intracellular signaling pathway|upregulation of intracellular signal transduction pathway|activation of intracellular signal transduction pathway|up-regulation of intracellular signaling chain|positive regulation of intracellular signaling pathway|up regulation of signal transduction via intracellular signaling cascade|upregulation of signal transmission via intracellular cascade|activation of signal transmission via intracellular cascade|up-regulation of intracellular signaling cascade|activation of intracellular signaling cascade|positive regulation of intracellular protein kinase cascade|up regulation of intracellular signaling chain|positive regulation of signal transduction via intracellular signaling cascade|up-regulation of intracellular signal transduction|up regulation of intracellular signaling cascade|activation of intracellular signaling chain|upregulation of intracellular signaling pathway|positive regulation of intracellular signaling chain|activation of intracellular signaling pathway|up-regulation of intracellular signal transduction pathway	http://purl.obolibrary.org/obo/GO_1902533		
CL:0002429	biolink:Cell	CD69-positive double-positive thymocyte	A double-positive thymocyte that is CD69-positive and has begun positive selection.		mondo.json	T.DP69+.Th	http://purl.obolibrary.org/obo/CL_0002429		
CL:0002428	biolink:Cell	double-positive blast	A double-positive thymocyte that is large (i.e. has a high forward scatter signal in flow cytometry) and is actively proliferating.		mondo.json	activated double-positive thymocyte|T.DPb.Th	http://purl.obolibrary.org/obo/CL_0002428		
GO:1902531	biolink:NamedThing	regulation of intracellular signal transduction	Any process that modulates the frequency, rate or extent of intracellular signal transduction.		mondo.json	regulation of intracellular protein kinase cascade|regulation of intracellular signaling pathway|regulation of intracellular signaling cascade|regulation of signal transduction via intracellular signaling cascade|regulation of intracellular signaling chain|regulation of intracellular signal transduction pathway|regulation of signal transmission via intracellular cascade	http://purl.obolibrary.org/obo/GO_1902531		
GO:1902532	biolink:NamedThing	negative regulation of intracellular signal transduction	Any process that stops, prevents or reduces the frequency, rate or extent of intracellular signal transduction.		mondo.json	down-regulation of signal transduction via intracellular signaling cascade|negative regulation of signal transduction via intracellular signaling cascade|downregulation of intracellular signaling cascade|downregulation of signal transmission via intracellular cascade|down regulation of intracellular signaling pathway|down-regulation of intracellular signaling chain|negative regulation of intracellular signaling chain|down regulation of signal transduction via intracellular signaling cascade|down-regulation of intracellular signaling cascade|down-regulation of signal transmission via intracellular cascade|inhibition of intracellular signal transduction pathway|down regulation of intracellular signaling chain|downregulation of intracellular signaling pathway|inhibition of intracellular signaling cascade|inhibition of signal transmission via intracellular cascade|down-regulation of intracellular signal transduction|downregulation of signal transduction via intracellular signaling cascade|down-regulation of intracellular signal transduction pathway|negative regulation of intracellular signal transduction pathway|downregulation of intracellular signaling chain|inhibition of intracellular signaling chain|down regulation of intracellular signal transduction|negative regulation of signal transmission via intracellular cascade|inhibition of intracellular signaling pathway|down regulation of intracellular signal transduction pathway|inhibition of signal transduction via intracellular signaling cascade|down regulation of intracellular signaling cascade|down regulation of signal transmission via intracellular cascade|negative regulation of intracellular protein kinase cascade|negative regulation of intracellular signaling pathway|downregulation of intracellular signal transduction|down-regulation of intracellular signaling pathway|inhibition of intracellular signal transduction|downregulation of intracellular signal transduction pathway|negative regulation of intracellular signaling cascade	http://purl.obolibrary.org/obo/GO_1902532		
CL:0002421	biolink:Cell	nucleated reticulocyte	A reticulocyte that retains the nucleus and other organelles. Found in birds, fish, amphibians and reptiles.		mondo.json		http://purl.obolibrary.org/obo/CL_0002421		
MONDO:0040566	biolink:Disease	inherited glutathione metabolism disease	An inherited metabolic disease that is has its basis in the disruption of glutathione metabolic process.	UMLS:C0268518|SCTID:72262000	mondo.json	rare inborn error of glutathione metabolic process|inborn error of glutathione metabolism|disorder of glutathione metabolism|inborn error of glutathione metabolic process|glutathione metabolism disorder, inherited|inborn glutathione metabolic process disorder	http://purl.obolibrary.org/obo/MONDO_0040566	http://identifiers.org/snomedct/72262000|UMLS:C0268518	
CL:0002420	biolink:Cell	immature T cell	A T cell that has not completed T cell selection.	CALOHA:TS-1042|BTO:0001372	mondo.json	immature T-cell	http://purl.obolibrary.org/obo/CL_0002420		
CL:0002423	biolink:Cell	DN2a thymocyte	A DN2 thymocyte that is Kit-hi.		mondo.json		http://purl.obolibrary.org/obo/CL_0002423		
CL:0002422	biolink:Cell	enucleated reticulocyte	A reticulocyte lacking a nucleus and showing a basophilic reticulum under vital staining due to the presence of ribosomes.	CALOHA:TS-0864|FMA:66785	mondo.json		http://purl.obolibrary.org/obo/CL_0002422		
CL:0002425	biolink:Cell	early T lineage precursor	A pro-T cell that is lin-negative, CD25-negative, CD127-negative, CD44-positive and kit-positive.		mondo.json	ETP|preT.ETP.Th	http://purl.obolibrary.org/obo/CL_0002425		
CL:0002424	biolink:Cell	DN2b thymocyte	A DN2 thymocyte that is Kit-low.		mondo.json		http://purl.obolibrary.org/obo/CL_0002424		
ENVO:01000665	biolink:NamedThing	waste role	A role that is realized in some process wherein the bearer is discarded or not utilized further.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000665		
CL:0002437	biolink:Cell	mature CD8 single-positive thymocyte	A mature CD8-positive, CD4-negative alpha-beta T cell found in the thymus that is CD24-low and has high expression of the T cell receptor.		mondo.json	T.8SP24-.Th	http://purl.obolibrary.org/obo/CL_0002437		
GO:0060341	biolink:NamedThing	regulation of cellular localization	Any process that modulates the frequency, rate or extent of a process in which a cell, a substance, or a cellular entity is transported to, or maintained in a specific location within or in the membrane of a cell.		mondo.json	regulation of cellular localisation	http://purl.obolibrary.org/obo/GO_0060341		
CL:0002430	biolink:Cell	CD4-intermediate, CD8-positive double-positive thymocyte	A double-positive thymocyte that is undergoing positive selection, has high expression of the alpha-beta T cell receptor, is CD69-positive, and is in the process of down regulating the CD4 co-receptor.		mondo.json	T.4int8+.Th|T_4int8+_Th	http://purl.obolibrary.org/obo/CL_0002430		
CL:0002432	biolink:Cell	CD24-positive, CD4 single-positive thymocyte	A CD4-positive, CD8-negative thymocyte that is CD24-positive and expresses high levels of the alpha-beta T cell receptor.		mondo.json	T.4SP24int.Th|CD24-positive, CD4 single-positive semimature thymocyte	http://purl.obolibrary.org/obo/CL_0002432		
CL:0002431	biolink:Cell	CD4-positive, CD8-intermediate double-positive thymocyte	A double-positive thymocyte that is undergoing positive selection, has high expression of the alpha-beta T cell receptor, is CD69-positive, and is in the process of down regulating the CD8 co-receptor.		mondo.json	T.4+8int.Th|T_4+8int_Th	http://purl.obolibrary.org/obo/CL_0002431		
CL:0002434	biolink:Cell	CD24-positive, CD8 single-positive thymocyte	A CD8-positive, CD4-negative thymocyte that is CD24-positive and expresses high levels of the alpha-beta T cell receptor.		mondo.json	T.8SP24int.Th|CD24-positive, CD8 single-positive semimature thymocyte	http://purl.obolibrary.org/obo/CL_0002434		
CL:0002433	biolink:Cell	CD69-positive, CD4-positive single-positive thymocyte	A CD4-positive, CD8-negative thymocyte that expresses high levels of the alpha-beta T cell receptor and is CD69-positive.		mondo.json	intermediate CD4-single-positive|T.4SP69+.Th	http://purl.obolibrary.org/obo/CL_0002433		
CL:0002436	biolink:Cell	mature CD4 single-positive thymocyte	A mature CD4-positive, CD8-negative alpha-beta T cell found in the thymus that is CD24-low and has high expression of the T cell receptor.		mondo.json	T.4SP24-.Th	http://purl.obolibrary.org/obo/CL_0002436		
GO:0060348	biolink:NamedThing	bone development	The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components.		mondo.json		http://purl.obolibrary.org/obo/GO_0060348		
CL:0002435	biolink:Cell	CD69-positive, CD8-positive single-positive thymocyte	A CD8-positive, CD4-negative thymocyte that expresses high levels of the alpha-beta T cell receptor and is CD69-positive.		mondo.json	intermediate CD8-single-positive|T.8SP69+.Th	http://purl.obolibrary.org/obo/CL_0002435		
GO:0072329	biolink:NamedThing	monocarboxylic acid catabolic process	The chemical reactions and pathways resulting in the breakdown of monocarboxylic acids, any organic acid containing one carboxyl (-COOH) group.		mondo.json		http://purl.obolibrary.org/obo/GO_0072329		
GO:0098976	biolink:NamedThing	excitatory chemical synaptic transmission	Synaptic transmission that results in an excitatory postsynaptic potential.		mondo.json		http://purl.obolibrary.org/obo/GO_0098976		
GO:0098975	biolink:NamedThing	postsynapse of neuromuscular junction	The postsynapse of a neuromuscular junction. In vertebrate muscles this includes the motor end-plate, consisting of postjunctional folds of the sarcolemma.		mondo.json		http://purl.obolibrary.org/obo/GO_0098975		
GO:0072350	biolink:NamedThing	tricarboxylic acid metabolic process	The chemical reactions and pathways involving dicarboxylic acids, any organic acid containing three carboxyl (COOH) groups or anions (COO-).		mondo.json	tricarboxylic acid metabolism	http://purl.obolibrary.org/obo/GO_0072350		
GO:0060374	biolink:NamedThing	mast cell differentiation	The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation.		mondo.json		http://purl.obolibrary.org/obo/GO_0060374		
GO:0060375	biolink:NamedThing	regulation of mast cell differentiation	Any process that modulates the rate, frequency or extent of mast cell differentiation, the process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation.		mondo.json		http://purl.obolibrary.org/obo/GO_0060375		
GO:0060376	biolink:NamedThing	positive regulation of mast cell differentiation	Any process that increases the rate, frequency or extent of mast cell differentiation, the process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation.		mondo.json		http://purl.obolibrary.org/obo/GO_0060376		
GO:0060377	biolink:NamedThing	negative regulation of mast cell differentiation	Any process that decreases the rate, frequency or extent of mast cell differentiation, the process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation.		mondo.json		http://purl.obolibrary.org/obo/GO_0060377		
MONDO:0015599	biolink:Disease	atopic keratoconjunctivitis	Atopic keratoconjunctivitis is a rare and chronic allergic disease of the cornea and conjunctiva occurring in all age groups characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis.	MedDRA:10069664|UMLS:C1274788|SCTID:403434009|Orphanet:163934|ICD9:370.49|ICD10CM:H16.2	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015599	http://identifiers.org/snomedct/403434009|Orphanet:163934|UMLS:C1274788	ordo_disease
MONDO:0015598	biolink:Disease	obsolete acrodermatitis continua suppurativa of Hallopeau			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015598		
GO:0035369	biolink:NamedThing	pre-B cell receptor complex	An immunoglobulin-like complex that is present in at least the plasma membrane of pre-B cells, and that is composed of two identical immunoglobulin heavy chains and two surrogate light chains, each composed of the lambda-5 and VpreB proteins, and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins.		mondo.json	pre-BCR	http://purl.obolibrary.org/obo/GO_0035369		
CL:0002400	biolink:Cell	Fraction B/C precursor B cell	A precursor B cell that is AA4-positive, IgM-negative, CD19-positive, CD43-positive and HSA-positive.		mondo.json		http://purl.obolibrary.org/obo/CL_0002400		
MONDO:0015593	biolink:Disease	limbic encephalitis with nCMAgs antibodies		Orphanet:163914	mondo.json	limbic encephalitis with novel cell membrane antigen antibodies	http://purl.obolibrary.org/obo/MONDO_0015593	Orphanet:163914	ordo_disease
MONDO:0015592	biolink:Disease	limbic encephalitis with LGI1 antibodies	Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported.	SCTID:763794005|Orphanet:163908	mondo.json	limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies	http://purl.obolibrary.org/obo/MONDO_0015592	Orphanet:163908|http://identifiers.org/snomedct/763794005	ordo_disease
MONDO:0015591	biolink:Disease	limbic encephalitis associated with antibodies to cell membrane antigens		Orphanet:163903	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015591	Orphanet:163903	ordo_group_of_disorders|disease_grouping
GO:0072359	biolink:NamedThing	circulatory system development	The process whose specific outcome is the progression of the circulatory system over time, from its formation to the mature structure. The circulatory system is the organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.		mondo.json	cardiovascular system development	http://purl.obolibrary.org/obo/GO_0072359		
MONDO:0015590	biolink:Disease	classic paraneoplastic limbic encephalitis	Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder characterized by the sudden onset of seizures, progressive memory impairment (which may develop into dementia) and psychiatric manifestations (e.g. depression, personality changes, loss of social inhibition) associated with cancer (most commonly small-cell carcinoma of the lung) in the absence of tumor cell invasion of the nervous system. Other reported features include ataxia, dystonia, paresthesia, tremors, paranoid ideation, and hallucinations. The presence of antibodies that act on neuronal antigens (such as anti-Hu, anti-Ma2, anti-amphiphysin) are typically observed.	Orphanet:163898	mondo.json	classic paraneoplastic limbic encephalitis, with or without intracellular antigens	http://purl.obolibrary.org/obo/MONDO_0015590	Orphanet:163898	ordo_disease
GO:0072358	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0072358		
MONDO:0015597	biolink:Disease	pustulosis palmaris et plantaris		MedDRA:10050185|ICD9:696.1|ICD10CM:L40.3|Orphanet:163927|DOID:4398|MESH:D011565|SCTID:27520001|NCIT:C34888|SCTID:81271001|GARD:0012820	mondo.json	palmoplantar pustulosis|pustular psoriasis of the palms and/or soles|PPP|acropustulosis|pustulosis of palm and sole|LPP|localized pustular psoriasis	http://purl.obolibrary.org/obo/MONDO_0015597	DOID:4398|http://identifiers.org/snomedct/81271001|NCIT:C34888|Orphanet:163927|http://purl.bioontology.org/ontology/ICD10CM/L40.3|http://identifiers.org/snomedct/27520001	ordo_disease
MONDO:0015596	biolink:Disease	non-herpetic acute limbic encephalitis	Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders.	Orphanet:163924|SCTID:764998005	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015596	Orphanet:163924|http://identifiers.org/snomedct/764998005	ordo_disease
MONDO:0015595	biolink:Disease	posttransplant acute limbic encephalitis	Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated.	Orphanet:163921	mondo.json	pale	http://purl.obolibrary.org/obo/MONDO_0015595	Orphanet:163921	ordo_clinical_situation
MONDO:0015594	biolink:Disease	non-paraneoplastic limbic encephalitis		Orphanet:163918	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015594	Orphanet:163918	ordo_group_of_disorders|disease_grouping
ENVO:01000685	biolink:NamedThing	water mass	A mass of water.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000685		
ENVO:01000687	biolink:NamedThing	coast	A coast is the area where land meets the sea, ocean, or lake.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000687		
GO:1902571	biolink:NamedThing	regulation of serine-type peptidase activity	Any process that modulates the frequency, rate or extent of serine-type peptidase activity.		mondo.json	regulation of serine protease activity	http://purl.obolibrary.org/obo/GO_1902571		
MONDO:0015589	biolink:Disease	paraneoplastic limbic encephalitis	A rare disorder characterized by degenerative changes in the limbic area of the brain. Causes include infections and autoimmune conditions; it may also manifest as a paraneoplastic syndrome, most often caused by small cell lung carcinoma. Signs and symptoms include behavioral changes, hallucinations and dementia.	SCTID:445014002|Orphanet:163895|NCIT:C4350|ICD9:323.81	mondo.json	limbic encephalitis	http://purl.obolibrary.org/obo/MONDO_0015589	http://identifiers.org/snomedct/445014002|Orphanet:163895|NCIT:C4350	disease_grouping|ordo_group_of_disorders
GO:1902572	biolink:NamedThing	negative regulation of serine-type peptidase activity	Any process that stops, prevents or reduces the frequency, rate or extent of serine-type peptidase activity.		mondo.json	downregulation of serine-type peptidase activity|negative regulation of serine protease activity|down-regulation of serine protease activity|down regulation of serine-type peptidase activity|inhibition of serine protease activity|inhibition of serine-type peptidase activity|down-regulation of serine-type peptidase activity|downregulation of serine protease activity|down regulation of serine protease activity	http://purl.obolibrary.org/obo/GO_1902572		
MONDO:0015588	biolink:Disease	limbic encephalitis	A group of autoimmune conditions characterized by inflammation of the limbic system and other parts of the brain.The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however,symptoms may also include confusion, psychiatric symptoms, and seizures.The symptomstypically develop over a few weeks or months, but they may evolve over a few days. Limbic encephalitis is often associated with an underlying neoplasm (paraneoplastic limbic encephalitis); however some cases never have a neoplasm identified (non-paraneoplastic limbic encephalitis). Delayed diagnosis is common, but improvements are being made to assist in early detection. Various tests including imaging studies (MRI, PET) laboratory tests (CSF analysis), and tests that measure the electrical activity of the brain (EEG) may be utilized to confirm a diagnosis. Treatment includes removal of the neoplasm (if identified) and immunotherapy.	Orphanet:163892|ICD9:323.9|GARD:0008742|SCTID:230192003|MESH:D020363	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015588	Orphanet:163892|http://identifiers.org/snomedct/230192003|http://identifiers.org/mesh/D020363	disease_grouping|ordo_group_of_disorders|gard_rare
MONDO:0015587	biolink:Disease	rolandic epilepsy-speech dyspraxia syndrome	A rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.	UMLS:CN199957|Orphanet:163721	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015587	Orphanet:163721|UMLS:CN199957	ordo_disease
ENVO:01000680	biolink:NamedThing	polluted lake	A lake which has concentrations of environmental contaminants high enough to harm the ecosystems associated with it.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000680		
MONDO:0015582	biolink:Disease	obsolete rare disorder related with pregnancy, childbirth and puerperium	OBSOLETE. Any of the forms of pregnancy disorder that have a rare incidence.	Orphanet:163637|UMLS:CN226708	mondo.json	rare pregnancy disorder	http://purl.obolibrary.org/obo/MONDO_0015582	Orphanet:163637|UMLS:CN226708	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0015581	biolink:Disease	obsolete bile acid synthesis defect with cholestasis and malabsorption		Orphanet:163631	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015581	Orphanet:163631	ordo_group_of_disorders
MONDO:0015580	biolink:Disease	distal monosomy 7q36	Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.	SCTID:763529005|Orphanet:1636	mondo.json	distal monosomy type 7q36|monosomy 7qter|distal deletion 7q36|telomeric deletion 7q36	http://purl.obolibrary.org/obo/MONDO_0015580	http://identifiers.org/snomedct/763529005|Orphanet:1636	ordo_malformation_syndrome
GO:0072348	biolink:NamedThing	sulfur compound transport	The directed movement of compounds that contain sulfur, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	sulfur-containing compound transport	http://purl.obolibrary.org/obo/GO_0072348		
MONDO:0015586	biolink:Disease	benign familial mesial temporal lobe epilepsy	Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication.	Orphanet:163717|UMLS:CN226709	mondo.json	benign FMTLE	http://purl.obolibrary.org/obo/MONDO_0015586	UMLS:CN226709|Orphanet:163717	ordo_disease
MONDO:0015585	biolink:Disease	cryptogenic late-onset epileptic spasms	Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.	Orphanet:163708	mondo.json	late-onset infantile spasms	http://purl.obolibrary.org/obo/MONDO_0015585	Orphanet:163708	ordo_disease
MONDO:0015584	biolink:Disease	febrile infection-related epilepsy syndrome	Febrile infection-related epilepsy syndrome (FIRES) describes an explosive-onset, potentially fatal acute epileptic encephalopathy that develops in previously healthy children and adolescents following the onset of a non-specific febrile illness.	GARD:0011005|Orphanet:163703|UMLS:CN199955|SCTID:725413002	mondo.json	AERRPS|status epilepticus owing to presumed encephalitis|fever-induced refractory epileptic encephalopathy in school-aged children|acute encephalitis with refractory repetitive partial seizures|devastating epileptic encephalopathy in school-aged children|severe refractory status epilepticus owing to presumed encephalitis|idiopathic catastrophic epileptic encephalopathy|FIRES|acute non-herpetic encephalitis with severe refractory status epilepticus|DESC syndrome	http://purl.obolibrary.org/obo/MONDO_0015584	http://identifiers.org/snomedct/725413002|Orphanet:163703|UMLS:CN199955	gard_rare|ordo_disease
MONDO:0015583	biolink:Disease	2p21 microdeletion syndrome	The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia.	Orphanet:163693|UMLS:C4304537|DECIPHER:87|UMLS:CN199952|SCTID:719652007	mondo.json	monosomy 2p21|2p21 deletion syndrome|Del(2)(p21)|2p21 Microdeletion Syndrome	http://purl.obolibrary.org/obo/MONDO_0015583	UMLS:C4304537|Orphanet:163693|http://identifiers.org/snomedct/719652007|UMLS:CN199952	ordo_disease
ENVO:01000635	biolink:NamedThing	planetary landmass	A landmass which is part of a planet.		mondo.json	ground|land	http://purl.obolibrary.org/obo/ENVO_01000635		
ENVO:01000637	biolink:NamedThing	outer space	Outer space is a hard vacuum containing a low density of particles, predominantly a plasma of hydrogen and helium as well as electromagnetic radiation, magnetic fields, neutrinos, dust and cosmic rays that exists between celestial bodies.		mondo.json	space	http://purl.obolibrary.org/obo/ENVO_01000637		
ENVO:01000638	biolink:NamedThing	planetary crust	A planetary crust is the outermost solid shell of a rocky planet or natural satellite, which is chemically distinct from the underlying mantle.		mondo.json	crust	http://purl.obolibrary.org/obo/ENVO_01000638		
GO:1902573	biolink:NamedThing	positive regulation of serine-type peptidase activity	Any process that activates or increases the frequency, rate or extent of serine-type peptidase activity.		mondo.json	activation of serine protease activity|upregulation of serine protease activity|up-regulation of serine-type peptidase activity|activation of serine-type peptidase activity|positive regulation of serine protease activity|up regulation of serine protease activity|upregulation of serine-type peptidase activity|up-regulation of serine protease activity|up regulation of serine-type peptidase activity	http://purl.obolibrary.org/obo/GO_1902573		
ENVO:01000639	biolink:NamedThing	planetary structural layer	A planetary structural layer is laminar part of a terrestrial planet or other rocky body large enough to have differentiation by density. Planetary layers have differing physicochemical properties and composition.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000639		
GO:0072376	biolink:NamedThing	protein activation cascade	A response to a stimulus that consists of a sequential series of modifications to a set of proteins where the product of one reaction acts catalytically in the following reaction. The magnitude of the response is typically amplified at each successive step in the cascade. Modifications typically include proteolysis or covalent modification, and may also include binding events.		mondo.json	protein activation pathway|protein activitory cascade	http://purl.obolibrary.org/obo/GO_0072376		
GO:0072364	biolink:NamedThing	obsolete regulation of cellular ketone metabolic process by regulation of transcription from RNA polymerase II promoter	OBSOLETE. Any process that modulates the frequency, rate or extent of a cellular ketone metabolic process by modulating the frequency, rate or extent of transcription from an RNA polymerase II promoter.		mondo.json	regulation of cellular ketone metabolic process by regulation of transcription from an RNA polymerase II promoter|regulation of cellular ketone metabolism by regulation of transcription from an RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0072364		
GO:0072363	biolink:NamedThing	obsolete regulation of glycolytic process by positive regulation of transcription from RNA polymerase II promoter	OBSOLETE. Any process that modulates the frequency, rate or extent of glycolysis by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter.		mondo.json	regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0072363		
GO:0072362	biolink:NamedThing	obsolete regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter	OBSOLETE. Any process that modulates the frequency, rate or extent of glycolysis by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter.		mondo.json	regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0072362		
ENVO:01000624	biolink:NamedThing	hydrological condensation process	Hydrological condensation is a process in which atmospheric water vapour undergoes a phase transition from the gas phase to the liquid phase.		mondo.json	condensation	http://purl.obolibrary.org/obo/ENVO_01000624		
GO:0072361	biolink:NamedThing	obsolete regulation of glycolytic process by regulation of transcription from RNA polymerase II promoter	OBSOLETE. Any process that modulates the frequency, rate or extent of glycolysis by modulating the frequency, rate or extent of transcription from an RNA polymerase II promoter.		mondo.json		http://purl.obolibrary.org/obo/GO_0072361		
NCBITaxon:337963	biolink:OrganismalEntity	Neotominae		PMID:15371245|GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_337963		
GO:0072369	biolink:NamedThing	obsolete regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter	OBSOLETE. Any process that modulates the frequency, rate or extent of lipid transport by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter.		mondo.json	regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0072369		
GO:0072368	biolink:NamedThing	obsolete regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter	OBSOLETE. Any process that modulates the frequency, rate or extent of lipid transport by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter.		mondo.json	regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0072368		
GO:0072367	biolink:NamedThing	obsolete regulation of lipid transport by regulation of transcription from RNA polymerase II promoter	OBSOLETE. Any process that modulates the frequency, rate or extent of lipid transport by modulating the frequency, rate or extent of transcription from an RNA polymerase II promoter.		mondo.json	regulation of lipid transport by regulation of transcription from an RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0072367		
GO:0072366	biolink:NamedThing	obsolete regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter	OBSOLETE. Any process that modulates the frequency, rate or extent of a cellular ketone metabolic process by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter.		mondo.json	regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of cellular ketone metabolism by positive regulation of transcription from an RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0072366		
GO:0072365	biolink:NamedThing	obsolete regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter	OBSOLETE. Any process that modulates the frequency, rate or extent of a cellular ketone metabolic process by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter.		mondo.json	regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|regulation of cellular ketone metabolism by negative regulation of transcription from an RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0072365		
CHEBI:50268	biolink:ChemicalSubstance	GABA modulator	A substance that does not act as agonist or antagonist but does affect the gamma-aminobutyric acid receptor-ionophore complex. GABA-A receptors appear to have at least three allosteric sites at which modulators act: a site at which benzodiazepines act by increasing the opening frequency of gamma-aminobutyric acid-activated chloride channels; a site at which barbiturates act to prolong the duration of channel opening; and a site at which some steroids may act.		mondo.json	GABA modulators	http://purl.obolibrary.org/obo/CHEBI_50268		
ENVO:01000646	biolink:NamedThing	lithosphere	A lithosphere is the outermost shell of a terrestrial-type planet or natural satellite that is defined by its rigid mechanical properties.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000646		
CHEBI:50267	biolink:ChemicalSubstance	protective agent	Synthetic or natural substance which is given to prevent a disease or disorder or are used in the process of treating a disease or injury due to a poisonous agent.		mondo.json	chemoprotective agents|chemoprotective agent|chemoprotectant|chemoprotectants|protective agents	http://purl.obolibrary.org/obo/CHEBI_50267		
ENVO:01000640	biolink:NamedThing	planetary mantle	A planetary mantle is a planetary layer which is an interior part of a terrestrial planet or other rocky body large enough to have differentiation by density.		mondo.json	mantle	http://purl.obolibrary.org/obo/ENVO_01000640		
CHEBI:144644	biolink:ChemicalSubstance	a tetracycline zwittterion			mondo.json	a tetracycline	http://purl.obolibrary.org/obo/CHEBI_144644		
ENVO:01000648	biolink:NamedThing	magma	Magma is a mixture of molten or semi-molten rock, volatiles, and solids that is found beneath the uppermost solid layer of a planetary body. Besides molten rock, magma may also contain suspended crystals, dissolved gas and sometimes gas bubbles.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000648		
CHEBI:50266	biolink:ChemicalSubstance	prodrug	A compound that, on administration, must undergo chemical conversion by metabolic processes before becoming the pharmacologically active drug for which it is a prodrug.		mondo.json	Prodrugs	http://purl.obolibrary.org/obo/CHEBI_50266		
MONDO:0003546	biolink:Disease	third cranial nerve disorder	A disease involving the oculomotor nerve.	UMLS:C0271353|DOID:562|SCTID:60750009|MESH:D015840|NCIT:C27598	mondo.json	oculomotor nerve disease|disorder of oculomotor nerve|oculomotor nerve disorder|oculomotor nerve disease or disorder|disease of oculomotor nerve|disease or disorder of oculomotor nerve	http://purl.obolibrary.org/obo/MONDO_0003546	NCIT:C27598|UMLS:C0271353|http://identifiers.org/mesh/D015840|http://identifiers.org/snomedct/60750009|DOID:562	
MONDO:0003547	biolink:Disease	obsolete histiocytic and dendritic cell cancer		UMLS:C1334030|NCIT:C9294	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003547		
MONDO:0003548	biolink:Disease	adenosquamous breast carcinoma	An invasive breast carcinoma characterized by the presence of tubular and glandular neoplastic cell structures, admixed with islands of neoplastic cells showing squamous differentiation.	UMLS:C1510796|NCIT:C40361|DOID:5623|ONCOTREE:MASC	mondo.json	breast adenosquamous carcinoma|adenosquamous breast carcinoma|metaplastic adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0003548	UMLS:C1510796|NCIT:C40361|DOID:5623	
MONDO:0003549	biolink:Disease	adenosquamous bile duct carcinoma	An adenosquamous carcinoma that arises from the bile ducts.	UMLS:C0861854|DOID:5624	mondo.json	adenosquamous bile duct carcinoma|adenosquamous carcinoma of the bile duct|adenosquamous carcinoma of bile duct|bile duct adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0003549	UMLS:C0861854|DOID:5624	
MONDO:0003542	biolink:Disease	dental pulp calcification		DOID:5608|UMLS:C0011401|MESH:D003784|ICD10CM:K04.2|SCTID:57602001	mondo.json	pulp calcification|pulp calcifications|pulpal calcifications	http://purl.obolibrary.org/obo/MONDO_0003542	http://identifiers.org/mesh/D003784|http://identifiers.org/snomedct/57602001|DOID:5608|UMLS:C0011401	
HGNC:9580	biolink:NamedThing	PSTPIP1			mondo.json		http://identifiers.org/hgnc/9580		
MONDO:0003543	biolink:Disease	trigeminal nerve disorder	A disease involving the trigeminal nerve.	MESH:D020433|DOID:561|NCIT:C26952|ICD9:350.8|SCTID:64309007	mondo.json	trigeminal nerve disease or disorder|disorder of trigeminal nerve|trigeminal nerve disorder|disorders of the fifth nerve|disease of trigeminal nerve|disease or disorder of trigeminal nerve|trigeminal nerve disease|disorders of the vth cranial nerve|disorder of the fifth cranial nerve	http://purl.obolibrary.org/obo/MONDO_0003543	NCIT:C26952|http://identifiers.org/mesh/D020433|DOID:561|http://identifiers.org/snomedct/64309007	
MONDO:0003544	biolink:Disease	spinal cord cancer	A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma.	ICD10CM:C72.0|SCTID:363475005|ICD9:192.2|UMLS:C0153646|NCIT:C3572|DOID:5612	mondo.json	malignant spinal cord tumor|spine cancer|spinal cord neoplasm|malignant tumor of spinal cord|malignant tumor of the spinal cord|malignant spinal cord neoplasm|spinal cord cancer|spinal neoplasm|cancer of spinal cord|spinal cancer|malignant neoplasm of spinal cord|tumor of the spinal cord|intraspinal tumor|malignant neoplasm of the spinal cord	http://purl.obolibrary.org/obo/MONDO_0003544	UMLS:C0153646|NCIT:C3572|DOID:5612|http://purl.bioontology.org/ontology/ICD10CM/C72.0|http://identifiers.org/snomedct/363475005	
MONDO:0003545	biolink:Disease	intradural extramedullary spinal canal neoplasm	A neoplasm that occurs within the spinal canal in the space between the spinal cord and the dura mater. Representative examples include meningioma, neurofibroma, and sarcoma. Signs and symptoms include local and radicular pain, weakness and spinal cord compression.	NCIT:C5135|UMLS:C1334255|DOID:5615	mondo.json	intradural extramedullary spinal canal neoplasm|intradural extramedullary tumor of the spinal canal|intradural extramedullary spinal canal tumors|intradural extramedullary spinal tumors|intradural extramedullary spinal neoplasms|intradural extramedullary neoplasm of spinal canal|spinal canal intradural extramedullary neoplasm|intradural extramedullary neoplasm of the spinal canal|intradural extramedullary spinal canal tumor|intradural extramedullary tumor of spinal canal	http://purl.obolibrary.org/obo/MONDO_0003545	NCIT:C5135|UMLS:C1334255|DOID:5615	
HGNC:24592	biolink:NamedThing	STEAP3			mondo.json		http://identifiers.org/hgnc/24592		
UBERON:0036376	biolink:AnatomicalEntity	wall of left ureter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036376		
UBERON:0036375	biolink:AnatomicalEntity	wall of right ureter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036375		
MONDO:0003540	biolink:Disease	acute T cell leukemia		SCTID:277575008|CSP:2004-1803|SCTID:110007008|DOID:5603|UMLS:C0023493|CSP:2004-1600|NCIT:C3184	mondo.json	precursor T lymphoblastic leukemia	http://purl.obolibrary.org/obo/MONDO_0003540	http://identifiers.org/snomedct/277575008|DOID:5603	
MONDO:0015529	biolink:Disease	paroxysmal Hemicrania	Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy.	GARD:0010794|MESH:D051302|SCTID:443094001|ICD9:339.03|EFO:1001822|MedDRA:10019461|Orphanet:157835|UMLS:C1399352	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015529	http://identifiers.org/mesh/D051302|Orphanet:157835|http://identifiers.org/snomedct/443094001|UMLS:C1399352	ordo_disease|gard_rare
MONDO:0003541	biolink:Disease	adult acute lymphoblastic leukemia	An acute lymphoblastic leukemia occurring during adulthood.	UMLS:C0751606|DOID:5604|NCIT:C4967	mondo.json	adult acute lymphoblastic leukemia|acute lymphoblastic leukemia (ALL)|adult precursor lymphoblastic leukemia|adult acute lymphocytic leukemia|adult acute lymphoid leukemia|adult ALL|adult acute lymphogenous leukemia	http://purl.obolibrary.org/obo/MONDO_0003541	NCIT:C4967|DOID:5604|UMLS:C0751606	
HGNC:24595	biolink:NamedThing	DYNC2LI1			mondo.json		http://identifiers.org/hgnc/24595		
MONDO:0015535	biolink:Disease	xanthoma disseminatum		GARD:0013186|UMLS:C0043322|SCTID:399970005|MedDRA:10052575|Orphanet:158003	mondo.json	Montgomery syndrome	http://purl.obolibrary.org/obo/MONDO_0015535	UMLS:C0043322|Orphanet:158003|http://identifiers.org/snomedct/399970005	ordo_disease|gard_rare
GO:2001152	biolink:NamedThing	negative regulation of renal water transport	Any process that stops, prevents or reduces the frequency, rate or extent of renal water transport.		mondo.json		http://purl.obolibrary.org/obo/GO_2001152		
MONDO:0015534	biolink:Disease	juvenile xanthogranuloma	A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules.	Orphanet:158000|NCIT:C3451|MESH:D014972|EFO:1000311|SCTID:400204000|DOID:4424|UMLS:C0043324	mondo.json	JXG|Naevoxanthoendothelioma|juvenile xanthogranuloma|xanthoma neviforme|multiple eruptive juvenile xanthogranuloma	http://purl.obolibrary.org/obo/MONDO_0015534	NCIT:C3451|UMLS:C0043324|http://identifiers.org/mesh/D014972|DOID:4424|Orphanet:158000|http://identifiers.org/snomedct/400204000	ordo_disease
GO:2001153	biolink:NamedThing	positive regulation of renal water transport	Any process that activates or increases the frequency, rate or extent of renal water transport.		mondo.json		http://purl.obolibrary.org/obo/GO_2001153		
MONDO:0015533	biolink:Disease	benign cephalic histiocytosis		UMLS:C0347403|Orphanet:157997|SCTID:255192005|ICD9:216.8	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015533	Orphanet:157997|UMLS:C0347403|http://identifiers.org/snomedct/255192005	ordo_disease
MONDO:0015532	biolink:Disease	generalized eruptive histiocytosis		SCTID:110980006|UMLS:C0347404|Orphanet:157991	mondo.json	generalized eruptive histiocytoma	http://purl.obolibrary.org/obo/MONDO_0015532	Orphanet:157991|UMLS:C0347404|http://identifiers.org/snomedct/110980006	ordo_disease
CL:1000298	biolink:Cell	mesothelial cell of dura mater	A mesothelial cell that is part of the dura mater.	FMA:256516	mondo.json	squamous mesothelial cell of dura mater	http://purl.obolibrary.org/obo/CL_1000298		
MONDO:0015539	biolink:Disease	progressive nodular histiocytosis	Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease.	SCTID:765141005|Orphanet:158022	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015539	Orphanet:158022|http://identifiers.org/snomedct/765141005	ordo_disease
CL:1000296	biolink:Cell	epithelial cell of urethra	An epithelial cell that is part of the urethra.	FMA:256165	mondo.json		http://purl.obolibrary.org/obo/CL_1000296		
MONDO:0015538	biolink:Disease	indeterminate dendritic cell tumor	A very rare dendritic cell tumor composed of spindle to ovoid cells with a phenotype that is similar to the Langerhans cells. Patients usually present with cutaneous papules, nodules, and plaques. Systemic symptoms are usually absent. The clinical course is variable.	SCTID:721313009|ONCOTREE:IDCT|Orphanet:158019|NCIT:C81767|UMLS:C2825741	mondo.json	indeterminate cell histiocytosis|indeterminate Dendritic cell tumor|indeterminate dendritic cell tumor|IDCT	http://purl.obolibrary.org/obo/MONDO_0015538	UMLS:C2825741|http://identifiers.org/snomedct/721313009|NCIT:C81767|Orphanet:158019	ordo_disease
MONDO:0015537	biolink:Disease	necrobiotic xanthogranuloma	A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated erythrocyte sedimentation rate; leukopenia; and monoclonal gammopathy (IgG-kappa type) and systemic involvement.	SCTID:404164003|Orphanet:158011|ICD9:709.8|GARD:0010951|EFO:1001376|MESH:D058252|UMLS:C1275339	mondo.json	NXG	http://purl.obolibrary.org/obo/MONDO_0015537	UMLS:C1275339|http://identifiers.org/mesh/D058252|http://identifiers.org/snomedct/404164003|Orphanet:158011	ordo_disease|gard_rare
MONDO:0015536	biolink:Disease	papular xanthoma	Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease.	Orphanet:158008|UMLS:CN199692|SCTID:765221009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015536	UMLS:CN199692|http://identifiers.org/snomedct/765221009|Orphanet:158008	ordo_disease
HGNC:9585	biolink:NamedThing	PTCH1			mondo.json		http://identifiers.org/hgnc/9585		
MONDO:0003539	biolink:Disease	T-cell adult acute lymphocytic leukemia	An acute T-lymphoblastic leukemia occurring in adults.	UMLS:C0279592|EFO:1001936|DOID:5602|NCIT:C9142	mondo.json	T Acute Lymphoblastic Leukemia|adult acute lymphoblastic leukemia of T cell|adult precursor T-lymphoblastic leukemia|T cell adult ALL|T-cell adult ALL|T cell adult acute lymphoblastic leukemia|T cell adult acute lymphocytic leukemia|adult T acute lymphoblastic leukemia|adult T-cell acute lymphoblastic leukemia|acute Adult T-cell Leukemia-lymphoma|adult precursor T lymphoblastic leukemia	http://purl.obolibrary.org/obo/MONDO_0003539	UMLS:C0279592|NCIT:C9142|DOID:5602	
MONDO:0015531	biolink:Disease	non-Langerhans cell histiocytosis	Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES).	SCTID:127069007|MESH:D015616|Orphanet:157987|ICD9:288.4|GARD:0008231|UMLS:C0019624|DOID:4330	mondo.json	histiocytosis, non-Langerhans-cell|non-Langerhans-cell histiocytosis	http://purl.obolibrary.org/obo/MONDO_0015531	Orphanet:157987|http://identifiers.org/mesh/D015616|http://identifiers.org/snomedct/127069007|DOID:4330|UMLS:C0019624	disease_grouping|ordo_group_of_disorders
HGNC:9588	biolink:NamedThing	PTEN			mondo.json		http://identifiers.org/hgnc/9588		
MONDO:0015530	biolink:Disease	trigeminal autonomic cephalalgia	A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms.	NCIT:C117074|SCTID:449814007|Orphanet:157843|ICD9:339.09|MESH:D051303|UMLS:C1565172	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015530	http://identifiers.org/snomedct/449814007|NCIT:C117074|UMLS:C1565172|http://identifiers.org/mesh/D051303|Orphanet:157843	disease_grouping|ordo_group_of_disorders
HGNC:9586	biolink:NamedThing	PTCH2			mondo.json		http://identifiers.org/hgnc/9586		
GO:2001151	biolink:NamedThing	regulation of renal water transport	Any process that modulates the frequency, rate or extent of renal water transport.		mondo.json		http://purl.obolibrary.org/obo/GO_2001151		
HGNC:9587	biolink:NamedThing	PTDSS1			mondo.json		http://identifiers.org/hgnc/9587		
MONDO:0003557	biolink:Disease	optic nerve sheath meningioma	A meningioma that affects the sheath of the optic nerve.	UMLS:C0346328|SCTID:254978007|DOID:5632|NCIT:C4538|ICD9:237.9	mondo.json	optic nerve sheath meningioma|meningioma of optic nerve sheath|meningioma of the optic nerve sheath	http://purl.obolibrary.org/obo/MONDO_0003557	NCIT:C4538|UMLS:C0346328|DOID:5632|http://identifiers.org/snomedct/254978007	
MONDO:0003558	biolink:Disease	adenosquamous prostate carcinoma	An infrequent invasive carcinoma of the prostate gland characterized by the presence of both glandular and squamous neoplastic components. It is more often located in the transitional zone of the prostate gland and it tends to rapidly metastasize to the bones.	UMLS:C1335503|DOID:5634|NCIT:C5538	mondo.json	adenosquamous carcinoma of the prostate|prostate gland adenosquamous carcinoma|prostate adenosquamous carcinoma|adenosquamous carcinoma of prostate	http://purl.obolibrary.org/obo/MONDO_0003558	NCIT:C5538|UMLS:C1335503|DOID:5634	
CHEBI:76898	biolink:ChemicalSubstance	EC 1.14.14.1 (unspecific monooxygenase) inhibitor	An EC 1.14.14.* (oxidoreductase acting on paired donors, incorporating of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitor that interferes with the action of an unspecified monooxygenase (EC 1.14.14.1).		mondo.json	microsomal P-450 inhibitor|substrate,reduced-flavoprotein:oxygen oxidoreductase (RH-hydroxylating or -epoxidising) inhibitor|aryl hydrocarbon hydroxylase inhibitor|microsomal monooxygenase inhibitor|flavoprotein-linked monooxygenase inhibitors|microsomal monooxygenase inhibitors|flavoprotein-linked monooxygenase inhibitor|aryl hydrocarbon hydroxylase inhibitors|substrate,reduced-flavoprotein:oxygen oxidoreductase (RH-hydroxylating or -epoxidising) inhibitors|microsomal P-450 inhibitors|xenobiotic monooxygenase inhibitor|unspecific monooxygenase (EC 1.14.14.1) inhibitor|unspecific monooxygenase inhibitors|EC 1.14.14.1 inhibitor|aryl-4-monooxygenase inhibitors|flavoprotein monooxygenase inhibitors|flavoprotein monooxygenase inhibitor|aryl-4-monooxygenase inhibitor|EC 1.14.14.1 inhibitors|EC 1.14.14.1 (unspecific monooxygenase) inhibitors|xenobiotic monooxygenase inhibitors|unspecific monooxygenase inhibitor|unspecific monooxygenase (EC 1.14.14.1) inhibitors	http://purl.obolibrary.org/obo/CHEBI_76898		
MONDO:0003559	biolink:Disease	obsolete cervical adenosquamous carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003559		
MONDO:0003553	biolink:Disease	ampulla of vater adenosquamous carcinoma	A carcinoma with glandular and squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.	NCIT:C27418|DOID:5628|UMLS:C1332245	mondo.json	hepatopancreatic ampulla adenosquamous carcinoma|ampulla of Vater adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0003553	UMLS:C1332245|DOID:5628|NCIT:C27418	
NCBITaxon:431037	biolink:OrganismalEntity	unclassified Roseolovirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_431037		
GO:0050954	biolink:NamedThing	sensory perception of mechanical stimulus	The series of events required for an organism to receive a sensory mechanical stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process.		mondo.json	perception of mechanical stimulus|mechanosensory perception|chemi-mechanical coupling	http://purl.obolibrary.org/obo/GO_0050954		
HGNC:9591	biolink:NamedThing	PTGDR			mondo.json		http://identifiers.org/hgnc/9591		
MONDO:0003554	biolink:Disease	adenosquamous colon carcinoma	An unusual colon carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.	DOID:5629|NCIT:C5491|UMLS:C1333082	mondo.json	colon adenosquamous cancer|colon adenosquamous carcinoma|adenosquamous carcinoma of colon|adenosquamous colon carcinoma|adenosquamous carcinoma of the colon|colonic adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0003554	UMLS:C1333082|DOID:5629|NCIT:C5491	
MONDO:0003555	biolink:Disease	Bartholin gland adenosquamous carcinoma	A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant glandular epithelial cells and malignant squamous epithelial cells.	NCIT:C40296|UMLS:C1511050|DOID:5630	mondo.json	Bartholin's gland adenosquamous carcinoma|Bartholin gland adenosquamous carcinoma|major vestibular gland adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0003555	NCIT:C40296|DOID:5630|UMLS:C1511050	
MONDO:0003556	biolink:Disease	endometrial adenosquamous carcinoma	A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components.	EFO:1001952|GARD:0013107|UMLS:C3896969|DOID:5631|NCIT:C114656	mondo.json	adenosquamous carcinoma of the endometrium|endometrium adenosquamous carcinoma|adenosquamous carcinoma of endometrium|endometrial adenosquamous cancer|endometrial adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0003556	UMLS:C3896969|DOID:5631|NCIT:C114656	gard_rare
GO:0050953	biolink:NamedThing	sensory perception of light stimulus	The series of events required for an organism to receive a sensory light stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process.		mondo.json		http://purl.obolibrary.org/obo/GO_0050953		
MONDO:0003550	biolink:Disease	esophageal adenosquamous carcinoma	An esophageal carcinoma characterized by the presence of distinguishable squamous and glandular carcinomatous components.	NCIT:C27421|DOID:5625|UMLS:C2063886	mondo.json	esophageal adenosquamous cancer|esophagus adenosquamous carcinoma|esophageal adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0003550	UMLS:C2063886|DOID:5625|NCIT:C27421	
MONDO:0003551	biolink:Disease	thymic adenosquamous carcinoma	A rare carcinoma that arises from the thymus and is characterized by the presence of glandular and squamous carcinomatous components.	DOID:5626|UMLS:C1332171|NCIT:C6458	mondo.json	thymus adenosquamous carcinoma|thymic adenosquamous carcinoma|adenosquamous carcinoma of the Thymus|adenosquamous carcinoma of Thymus|Thymus adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0003551	UMLS:C1332171|DOID:5626|NCIT:C6458	
MONDO:0015519	biolink:Disease	congenital or early infantile CACH syndrome		Orphanet:157713	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015519	Orphanet:157713	ordo_clinical_subtype
MONDO:0015518	biolink:Disease	infantile bilateral striatal necrosis	Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic.	UMLS:C0795996|Orphanet:1576|ICD10CM:G23.2|SCTID:718174008|GARD:0005040	mondo.json	striatal degeneration familial|infantile striatonigral necrosis|SNDI|IBSN|infantile striatonigral degeneration|striatonigral degeneration infantile|infantile bilateral striatal necrosis	http://purl.obolibrary.org/obo/MONDO_0015518	UMLS:C0795996|http://identifiers.org/snomedct/718174008|Orphanet:1576	gard_rare|ordo_disease
GO:0050957	biolink:NamedThing	equilibrioception	The series of events required for an organism to receive an orientational stimulus, convert it to a molecular signal, and recognize and characterize the signal. Equilibrioception refers to a combination of processes by which an organism can perceive its orientation with respect to gravity. In animals, stimuli come from labyrinth system of the inner ears, monitoring the direction of motion; visual stimuli, with information on orientation and motion; pressure receptors, which tell the organism which body surfaces are in contact with the ground; and proprioceptive cues, which report which parts of the body are in motion.		mondo.json	sensory perception of orientation with respect to gravity	http://purl.obolibrary.org/obo/GO_0050957		
MONDO:0003552	biolink:Disease	obsolete adenosquamous gallbladder carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003552		
MONDO:0015524	biolink:Disease	hyperplastic polyposis syndrome	Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.	NCIT:C165469|UMLS:CN199665|SCTID:763536006|OMIM:175020|Orphanet:157798	mondo.json	serrated polyposis	http://purl.obolibrary.org/obo/MONDO_0015524	UMLS:CN199665|Orphanet:157798|NCIT:C165469|http://identifiers.org/snomedct/763536006	ordo_disease
MONDO:0015523	biolink:Disease	epithelioid hemangioendothelioma	A low-grade malignant blood vessel neoplasm. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma.	SCTID:403981003|Orphanet:157791|DOID:0080190|SCTID:54124005|ICDO:9133/3|NCIT:C3800|ICDO:9133/1|ONCOTREE:EHAE|ICDO:9130/3|UMLS:C0206732|MESH:D018323	mondo.json	epithelioid angioendothelioma|epithelioid hemangioendothelioma|epithelioid angiosarcoma|malignant epithelioid hemangioendothelioma	http://purl.obolibrary.org/obo/MONDO_0015523	http://identifiers.org/mesh/D018323|Orphanet:157791|NCIT:C3800|DOID:0080190|http://identifiers.org/snomedct/54124005|UMLS:C0206732	ordo_disease
MONDO:0015522	biolink:Disease	situs ambiguus		ICD10CM:Q89.3|Orphanet:157769|GARD:0010875|MedDRA:10059119|SCTID:14821001	mondo.json	incomplete situs inversus|situs ambiguous|partial situs inversus	http://purl.obolibrary.org/obo/MONDO_0015522	Orphanet:157769|http://identifiers.org/snomedct/14821001	ordo_morphological_anomaly
MONDO:0015521	biolink:Disease	juvenile or adult CACH syndrome		Orphanet:157719|UMLS:CN199660	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015521	Orphanet:157719|UMLS:CN199660	ordo_clinical_subtype
CL:1000286	biolink:Cell	smooth muscle cell of rectum	A smooth muscle cell that is part of the rectum.	FMA:17522	mondo.json	non-striated muscle fiber of rectum|smooth muscle fiber of rectum	http://purl.obolibrary.org/obo/CL_1000286		
MONDO:0015528	biolink:Disease	congenital epulis	A congenital gingival tumor that occurs along the alveolar ridge of the maxilla. It usually affects female infants. The histogenesis is unknown. Morphologically, it is characterized by the presence of large cells with eosinophilic granular cytoplasm. Complete surgical resection is curative.	UMLS:C0376319|MESH:D005887|NCIT:C4675|Orphanet:157826|DOID:7280|SCTID:360525006	mondo.json	congenital gingival cell tumor|gingival granular cell tumor|congenital granular cell tumor|Neumann tumor|congenital Epulides|congenital epulis	http://purl.obolibrary.org/obo/MONDO_0015528	Orphanet:157826|http://identifiers.org/mesh/D005887|UMLS:C0376319|NCIT:C4675|DOID:7280|http://identifiers.org/snomedct/360525006	ordo_disease
MONDO:0015527	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0015527		
CL:1000285	biolink:Cell	smooth muscle cell of sigmoid colon	A smooth muscle cell that is part of the sigmoid colon.	FMA:17521	mondo.json	non-striated muscle fiber of sigmoid colon	http://purl.obolibrary.org/obo/CL_1000285		
GO:2001169	biolink:NamedThing	regulation of ATP biosynthetic process	Any process that modulates the frequency, rate or extent of ATP biosynthetic process.		mondo.json	regulation of ATP regeneration|regulation of ATP formation|regulation of ATP biosynthesis|regulation of ATP anabolism|regulation of ATP synthesis	http://purl.obolibrary.org/obo/GO_2001169		
CL:1000284	biolink:Cell	smooth muscle fiber of descending colon	A smooth muscle cell that is part of the descending colon.	FMA:17520	mondo.json	non-striated muscle fiber of descending colon	http://purl.obolibrary.org/obo/CL_1000284		
MONDO:0015526	biolink:Disease	cold-induced sweating syndrome	Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature.	DOID:0060294|UMLS:CN043579|OMIMPS:272430|SCTID:702363009|Orphanet:157820	mondo.json	CISS|Sohar-Crisponi syndrome	http://purl.obolibrary.org/obo/MONDO_0015526	DOID:0060294|http://identifiers.org/snomedct/702363009|Orphanet:157820|https://omim.org/phenotypicSeries/PS272430|UMLS:CN043579	ordo_disease
MONDO:0015525	biolink:Disease	congenital pseudoarthrosis of the limbs		MESH:C535762|GARD:0009722|Orphanet:157808	mondo.json	congenital pseudarthrosis of the limbs|congenital pseudoarthrosis	http://purl.obolibrary.org/obo/MONDO_0015525	http://identifiers.org/mesh/C535762|Orphanet:157808	gard_rare|ordo_morphological_anomaly
CL:1000283	biolink:Cell	smooth muscle fiber of transverse colon	A smooth muscle cell that is part of the transverse colon.	FMA:17519	mondo.json	non-striated muscle fiber of transverse colon	http://purl.obolibrary.org/obo/CL_1000283		
CL:1000282	biolink:Cell	smooth muscle fiber of ascending colon	A smooth muscle cell that is part of the ascending colon.	FMA:17518	mondo.json	non-striated muscle fiber of ascending colon	http://purl.obolibrary.org/obo/CL_1000282		
CL:1000281	biolink:Cell	smooth muscle cell of cecum	A smooth muscle cell that is part of the cecum.	FMA:15681	mondo.json	non-striated muscle fiber of cecum|smooth muscle fiber of cecum	http://purl.obolibrary.org/obo/CL_1000281		
CL:1000280	biolink:Cell	smooth muscle cell of colon	A smooth muscle cell that is part of the colon.	FMA:15663	mondo.json	non-striated muscle fiber of colon	http://purl.obolibrary.org/obo/CL_1000280		
HGNC:9594	biolink:NamedThing	PTGER2			mondo.json		http://identifiers.org/hgnc/9594		
MONDO:0015520	biolink:Disease	late infantile CACH syndrome		UMLS:CN199659|Orphanet:157716	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015520	Orphanet:157716|UMLS:CN199659	ordo_clinical_subtype
CHEBI:76895	biolink:ChemicalSubstance	EC 3.6.3.* (acid anhydride hydrolase catalysing transmembrane movement of substances) inhibitor	An EC 3.6.* (hydrolases acting on acid anhydrides) inhibitor that interferes with the action of any such enzyme that catalyses transmembrane movement of substances (EC 3.6.3.*).		mondo.json	EC 3.6.3.* inhibitors|EC 3.6.3.* (acid anhydride hydrolase catalysing transmembrane movement of substances) inhibitors|acid anhydride hydrolase catalysing transmembrane movement of substances (EC 3.6.3.*) inhibitors|acid anhydride hydrolase catalysing transmembrane movement of substances (EC 3.6.3.*) inhibitor|EC 3.6.3.* inhibitor	http://purl.obolibrary.org/obo/CHEBI_76895		
MONDO:0003524	biolink:Disease	gastric gastrin-producing neuroendocrine tumor	A well differentiated neuroendocrine tumor that arises from the stomach. It produces gastrin and it may be associated with Zollinger-Ellison syndrome.	NCIT:C27444|UMLS:C1333767|DOID:5579	mondo.json	stomach gastrin-producing neuroendocrine tumor|gastric gastrinoma|gastric G-cell gastrin producing tumor|gastrin-producing neuroendocrine tumor of stomach|gastric gastrin-producing NET|gastrin-producing neuroendocrine tumor of the stomach|gastric gastrin producing tumor|gastrin producing neuroendocrine tumor of the stomach|gastrin producing tumor of the stomach|gastric gastrin-producing neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0003524	NCIT:C27444|UMLS:C1333767|DOID:5579	
MONDO:0003525	biolink:Disease	pancreatic gastrin-producing neuroendocrine tumor	A usually malignant gastrin-producing neuroendocrine tumor arising from the pancreas. It may or may not be associated with inappropriate secretion of gastrin and an associated clinical syndrome.	UMLS:C1368066|NCIT:C9069|MESH:D015408|DOID:5580	mondo.json	islet cell tumor, ulcerogenic|pancreatic gastrin-producing neuroendocrine tumor|pancreatic gastrin producing tumor|pancreatic gastrin producing NET|gastrin-producing neuroendocrine tumor of pancreas|pancreas gastrin-producing neuroendocrine tumor|pancreatic G-cell tumor	http://purl.obolibrary.org/obo/MONDO_0003525	http://identifiers.org/mesh/D015408|NCIT:C9069|DOID:5580|UMLS:C1368066	
GO:0050962	biolink:NamedThing	detection of light stimulus involved in sensory perception	The series of events in which a light stimulus is received by a cell and converted into a molecular signal as part of the sensory perception of light.		mondo.json	sensory transduction of light stimulus|sensory perception, sensory detection of light stimulus|sensory detection of light stimulus during sensory perception|sensory perception, sensory transduction of light stimulus|sensory detection of light stimulus|sensory transduction of light stimulus during sensory perception	http://purl.obolibrary.org/obo/GO_0050962		
HGNC:24579	biolink:NamedThing	CIB2			mondo.json		http://identifiers.org/hgnc/24579		
HGNC:24576	biolink:NamedThing	CDT1			mondo.json		http://identifiers.org/hgnc/24576		
MONDO:0003526	biolink:Disease	obsolete lung giant cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003526		
MONDO:0003527	biolink:Disease	obsolete Ferguson-Smith tumor	OBSOLETE. A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve. It has been described almost exclusively in families of Scottish origin. It is caused by a mutation in the tumor-suppressing gene, TGFBR1, on chromosome 9. Clinical presentation is usually rapidly growing squamous cell carcinomas or keratoacanthomas that primarily localize to sun-exposed areas. Appearance of the neoplasms occurs over several weeks before receding over the course of several months if untreated. The regression of the lesions leaves pitting cicatrices but no other known sequelae.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0003527		
MONDO:0003520	biolink:Disease	obsolete malignant acrospiroma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003520		
MONDO:0003521	biolink:Disease	obsolete VIPoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003521		
GO:0050966	biolink:NamedThing	detection of mechanical stimulus involved in sensory perception of pain	The series of events involved in the perception of pain in which a mechanical stimulus is received and converted into a molecular signal.		mondo.json	perception of pain, sensory transduction of mechanical stimulus|perception of pain, sensory detection of mechanical stimulus|sensory transduction of mechanical stimulus during perception of pain|perception of pain, detection of mechanical stimulus|mechanical nociception|sensory detection of mechanical stimulus during perception of pain	http://purl.obolibrary.org/obo/GO_0050966		
MONDO:0003522	biolink:Disease	male orgasm disorder	Persistent delay or absence in orgasm not accounted for by a medical reason.	ICD10CM:F52.32|DOID:5576|SCTID:81903006|NCIT:C34959	mondo.json	inhibited male orgasm|male orgasmic disorder	http://purl.obolibrary.org/obo/MONDO_0003522	http://identifiers.org/snomedct/81903006|http://purl.bioontology.org/ontology/ICD10CM/F52.32|DOID:5576|NCIT:C34959	
MONDO:0003523	biolink:Disease	gastrin-producing neuroendocrine tumor	A gastrin-producing neuroendocrine tumor. It is usually located in the pancreas but it is also found at other anatomic sites, including the stomach and small intestine.	DOID:5577|UMLS:CN206461|NCIT:C3050|ICDO:8153/1	mondo.json	G cell tumor|gastrin secreting tumor|gastrin-producing NET|gastrinoma|G-cell tumor|gastrin cell tumour|malignant gastrinoma|gastrin-producing neuroendocrine tumor|G-cell gastrin producing tumor	http://purl.obolibrary.org/obo/MONDO_0003523	UMLS:CN206461|NCIT:C3050|DOID:5577	
PO:0000229	biolink:NamedThing	flower meristem	A portion of reproductive shoot apical meristem tissue (PO:0008028) that gives rise to the floral organs (PO:0025395).		mondo.json	mersitema floral (Spanish, exact)|floret meristem (narrow)|floral apical meristem (related)|tassel floret meristem (narrow)|floral meristem (exact)|ear floret meristem (narrow)|Poaceae floret meristem (narrow)|花芽分裂組織 (Japanese, exact)	http://purl.obolibrary.org/obo/PO_0000229		
MONDO:0015509	biolink:Disease	genetic biliary tract disease	Genetic biliary tract disease.	Orphanet:156607|UMLS:CN199642	mondo.json	genetic biliary tract disease	http://purl.obolibrary.org/obo/MONDO_0015509	UMLS:CN199642|Orphanet:156607	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0015508	biolink:Disease	genetic parenchymatous liver disease		UMLS:CN199641|Orphanet:156604	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015508	UMLS:CN199641|Orphanet:156604	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0015507	biolink:Disease	obsolete rare genetic hepatic disease	OBSOLETE. Rare genetic liver disease.	UMLS:CN199640|Orphanet:156601	mondo.json	rare genetic liver disease	http://purl.obolibrary.org/obo/MONDO_0015507	UMLS:CN199640|Orphanet:156601	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
GO:0050968	biolink:NamedThing	detection of chemical stimulus involved in sensory perception of pain	The series of events involved in the perception of pain in which a chemical stimulus is received and converted into a molecular signal.		mondo.json	sensory detection of chemical stimulus during perception of pain|chemical nociception|perception of pain, sensory transduction of chemical stimulus|perception of pain, sensory detection of chemical stimulus|sensory transduction of chemical stimulus during perception of pain|perception of pain, detection of chemical stimulus	http://purl.obolibrary.org/obo/GO_0050968		
MONDO:0040502	biolink:Disease	glucocorticoid deficiency 5		OMIM:617825	mondo.json	GCCD5|glucocorticoid deficiency 5	http://purl.obolibrary.org/obo/MONDO_0040502	https://omim.org/entry/617825	
CL:0002485	biolink:Cell	retinal melanocyte	A melanocyte of the retina. This cell type is distinct from pigmented retinal epithelium.		mondo.json		http://purl.obolibrary.org/obo/CL_0002485		
MONDO:0015513	biolink:Disease	obsolete rare genetic endocrine disease	OBSOLETE. A form of endocrine system disease that is both rare and inborn.	Orphanet:156638|UMLS:CN199645	mondo.json	rare genetic endocrine system disease	http://purl.obolibrary.org/obo/MONDO_0015513	UMLS:CN199645|Orphanet:156638	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0040501	biolink:Disease	ehlers-danlos syndrome, arthrochalasia type, 2		OMIM:617821	mondo.json	EDS VIIB|EDSARTH2|EDS 7B|Ehlers-Danlos syndrome, arthrochalasia type, 2|Ehlers-Danlos syndrome, type VIIb, Autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0040501	https://omim.org/entry/617821	
MONDO:0015512	biolink:Disease	genetic hypertension	An instance of hypertension that is caused by a modification of the individual's genome.	UMLS:C0598428|Orphanet:156629	mondo.json	genetic hypertensive disorder|genetic hypertension	http://purl.obolibrary.org/obo/MONDO_0015512	Orphanet:156629|UMLS:C0598428	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
CL:0002484	biolink:Cell	epithelial melanocyte	A melanocyte that produces pigment in the epithelium.		mondo.json		http://purl.obolibrary.org/obo/CL_0002484		
MONDO:0040500	biolink:Disease	glycosylphosphatidylinositol biosynthesis defect 16		OMIM:617816	mondo.json	intellectual disability, autosomal recessive 62|mental retardation, autosomal recessive 62|glycosylphosphatidylinositol biosynthesis defect 16|GPIBD16	http://purl.obolibrary.org/obo/MONDO_0040500	https://omim.org/entry/617816	
MONDO:0015511	biolink:Disease	obsolete rare genetic urogenital disease		Orphanet:156619|UMLS:CN199644	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015511	UMLS:CN199644|Orphanet:156619	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0015510	biolink:Disease	obsolete rare genetic respiratory disease	OBSOLETE. Rare genetic respiratory system disease.	UMLS:CN199643|Orphanet:156610	mondo.json	rare genetic respiratory system disease	http://purl.obolibrary.org/obo/MONDO_0015510	UMLS:CN199643|Orphanet:156610	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
HGNC:12597	biolink:NamedThing	USH1C			mondo.json		http://identifiers.org/hgnc/12597		
MONDO:0015517	biolink:Disease	common variable immunodeficiency	Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.	SCTID:23238000|UMLS:C0009447|ICD9:279.06|Orphanet:1572|MedDRA:10021449|NCIT:C26725|DOID:12177|OMIMPS:607594|GARD:0006140|MESH:D017074	mondo.json	common variable agammaglobulinemia|sporadic hypogammaglobulinemia|common variable hypogamma-globulinemia|Immunoglobulin deficiency, late-onset|primary hypogammaglobulinemia|common variable immune deficiency|CVID|acquired hypogammaglobulinemia|idiopathic immunoglobulin deficiency|primary antibody deficiency|secondary hypogammaglobulinemia|acquired agammaglobulinemia|hypogamma-globulinemia, acquired	http://purl.obolibrary.org/obo/MONDO_0015517	DOID:12177|http://identifiers.org/mesh/D017074|http://identifiers.org/snomedct/23238000|NCIT:C26725|https://omim.org/phenotypicSeries/PS607594|UMLS:C0009447|Orphanet:1572	ordo_disease
CL:0002489	biolink:Cell	double negative thymocyte	A thymocyte that lacks expression of CD4 and CD8.		mondo.json	CD4-CD8- T cell|double negative T cell	http://purl.obolibrary.org/obo/CL_0002489		
MONDO:0015516	biolink:Disease	symbrachydactyly of hands and feet	Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.	Orphanet:1570	mondo.json	De Smet-Fabry-Fryns syndrome	http://purl.obolibrary.org/obo/MONDO_0015516	Orphanet:1570	ordo_malformation_syndrome
MONDO:0015515	biolink:Disease	carnitine palmitoyltransferase II deficiency	Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form.	SCTID:238002005|NCIT:C114766|GARD:0001121|ICD9:277.85|HGNC:2330|MESH:C535589|UMLS:C0342790|Orphanet:157|DOID:0060235	mondo.json	Carnitine palmitoyltransferase deficiency type 2|Carnitine palmitoyltransferase 2 deficiency|CPT II deficiency|Carnitine palmitoyltransferase II (CPT II) deficiency|CPT2|CPT-II|carnitine palmitoyltransferase II deficiency|CPTII|infantile carnitine palmitoyltransferase II deficiency|late-onset carnitine palmitoyltransferase II deficiency|lethal neonatal carnitine palmitoyltransferase II deficiency	http://purl.obolibrary.org/obo/MONDO_0015515	UMLS:C0342790|http://identifiers.org/mesh/C535589|DOID:0060235|NCIT:C114766|http://identifiers.org/snomedct/238002005|Orphanet:157	ordo_disease|gard_rare
MONDO:0040503	biolink:Disease	blepharocheilodontic syndrome 2	Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene.	DOID:0080346|UMLS:C4540127|OMIM:617681	mondo.json	BLEPHAROCHEILODONTIC syndrome 2|BCDS2|blepharo-cheilo-odontic syndrome caused by mutation in CTNND1|CTNND1 blepharo-cheilo-odontic syndrome	http://purl.obolibrary.org/obo/MONDO_0040503	DOID:0080346|https://omim.org/entry/617681|UMLS:C4540127	
MONDO:0015514	biolink:Disease	genetic endocrine growth disease		MESH:D006130|Orphanet:156643|UMLS:CN237424	mondo.json	growth disorder	http://purl.obolibrary.org/obo/MONDO_0015514	http://identifiers.org/mesh/D006130|Orphanet:156643|UMLS:CN237424	disease_grouping|ordo_group_of_disorders
HGNC:12592	biolink:NamedThing	UROS			mondo.json		http://identifiers.org/hgnc/12592		
HGNC:12591	biolink:NamedThing	UROD			mondo.json		http://identifiers.org/hgnc/12591		
MONDO:0003517	biolink:Disease	mature teratoma	A teratoma which may be cystic; it is composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues.	DOID:5566|ONCOTREE:VMT|NCIT:C9015|UMLS:C1368910|SCTID:254875009|ICDO:9080/0	mondo.json	mature teratoma	http://purl.obolibrary.org/obo/MONDO_0003517	DOID:5566|http://identifiers.org/snomedct/254875009|UMLS:C1368910|NCIT:C9015	
CL:0002481	biolink:Cell	peritubular myoid cell	The flattened smooth myoepithelial cells of mesodermal origin that lie just outside the basal lamina of the seminiferous tubule.		mondo.json		http://purl.obolibrary.org/obo/CL_0002481		
HP:0020064	biolink:PhenotypicFeature	Abnormal eosinophil count	Any deviation from the normal number of eosinophils per volume in the blood circulation.		mondo.json		http://purl.obolibrary.org/obo/HP_0020064		
GO:2001170	biolink:NamedThing	negative regulation of ATP biosynthetic process	Any process that stops, prevents or reduces the frequency, rate or extent of ATP biosynthetic process.		mondo.json	negative regulation of ATP synthesis|negative regulation of ATP formation|negative regulation of ATP biosynthesis|negative regulation of ATP anabolism|negative regulation of ATP regeneration	http://purl.obolibrary.org/obo/GO_2001170		
GO:2001171	biolink:NamedThing	positive regulation of ATP biosynthetic process	Any process that activates or increases the frequency, rate or extent of ATP biosynthetic process.		mondo.json	positive regulation of ATP synthesis|positive regulation of ATP formation|positive regulation of ATP regeneration|positive regulation of ATP anabolism|positive regulation of ATP biosynthesis	http://purl.obolibrary.org/obo/GO_2001171		
CL:0002480	biolink:Cell	nasal mucosa goblet cell	A goblet cell located in the nasal epithelium.	MP:0002262	mondo.json		http://purl.obolibrary.org/obo/CL_0002480		
MONDO:0003518	biolink:Disease	mediastinum teratoma	A teratoma that involves the mediastinum.	DOID:5568|NCIT:C6438|UMLS:C1334682	mondo.json	mediastinum teratoma|teratoma of mediastinum	http://purl.obolibrary.org/obo/MONDO_0003518	DOID:5568|NCIT:C6438|UMLS:C1334682	
MONDO:0003519	biolink:Disease	malignant syringoma	A malignant form of syringoma.	UMLS:C0346027|DOID:5569|SCTID:254712007|NCIT:C7581|ONCOTREE:MAC|GARD:0010438	mondo.json	MAC|syringomatous carcinoma|microcystic adnexal carcinoma|microcystic adnexal carcinoma of skin|syringoma, malignant	http://purl.obolibrary.org/obo/MONDO_0003519	DOID:5569|NCIT:C7581|http://identifiers.org/snomedct/254712007|UMLS:C0346027	
CL:0002483	biolink:Cell	hair follicle melanocyte	A melanocyte that produces pigment within the hair follicle.		mondo.json		http://purl.obolibrary.org/obo/CL_0002483		
CL:0002482	biolink:Cell	dermal melanocyte	A melanocyte that produces pigment in the dermis.		mondo.json		http://purl.obolibrary.org/obo/CL_0002482		
HGNC:12593	biolink:NamedThing	USF1			mondo.json		http://identifiers.org/hgnc/12593		
MONDO:0003535	biolink:Disease	fallopian tube papillary adenocarcinoma	An adenocarcinoma that arises from the fallopian tube and is characterized by a papillary architectural pattern.	DOID:5597|NCIT:C6267|UMLS:C1333595	mondo.json	papillary adenocarcinoma of fallopian tube|fallopian tube papillary adenocarcinoma|papillary adenocarcinoma of the fallopian tube	http://purl.obolibrary.org/obo/MONDO_0003535	NCIT:C6267|UMLS:C1333595|DOID:5597	
MONDO:0003536	biolink:Disease	obsolete fallopian tube serous adenocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003536		
GO:0050973	biolink:NamedThing	detection of mechanical stimulus involved in equilibrioception	The series of events involved in equilibrioception in which a mechanical stimulus is received and converted into a molecular signal. During equilibrioception, mechanical stimuli may be in the form of input from pressure receptors or from the labyrinth system of the inner ears.		mondo.json	sensory detection of mechanical stimulus during equilibrioception|equilibrioception, sensory detection of mechanical stimulus|equilibrioception, detection of mechanical stimulus|equilibrioception, sensory transduction of mechanical stimulus|sensory transduction of mechanical stimulus during equilibrioception	http://purl.obolibrary.org/obo/GO_0050973		
MONDO:0003537	biolink:Disease	precursor T-lymphoblastic lymphoma/leukemia	A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)	ICDO:9837/3|NCIT:C8694|UMLS:C1301359|DOID:5599	mondo.json	precursor T-lymphoblastic lymphoma/leukemia|precursor T lymphoblastic lymphoma/leukemia|T lymphoblastic leukemia/lymphoma|precursor T lymphoblastic leukemia/lymphoma	http://purl.obolibrary.org/obo/MONDO_0003537	NCIT:C8694|UMLS:C1301359	
CHEBI:27902	biolink:ChemicalSubstance	tetracycline	A broad-spectrum polyketide antibiotic produced by the Streptomyces genus of actinobacteria.		mondo.json	(4S,4aS,5aS,12aS)-4-(Dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,6,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-2-naphthacenecarboxamide|Tetrazyklin|Tetracyclin|Tsiklomitsin|TETRACYCLINE|tetracycline|Tetracycline|Anhydrotetracycline|tetracycline|tetracyclinum|Liquamycin|Abramycin|(4S,4aS,5aS,6S,12aS)-4-(dimethylamino)-3,6,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide|Deschlorobiomycin|Achromycin	http://purl.obolibrary.org/obo/CHEBI_27902		
HGNC:24587	biolink:NamedThing	FAM126A			mondo.json		http://identifiers.org/hgnc/24587		
MONDO:0003538	biolink:Disease	precursor lymphoblastic lymphoma/leukemia	A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003	EFO:0009119|UMLS:C1335469|DOID:5600|NCIT:C7055	mondo.json	precursor lymphoblastic leukemia/lymphoma|precursor lymphoid neoplasm|precursor lymphoblastic lymphoma/leukemia	http://purl.obolibrary.org/obo/MONDO_0003538	UMLS:C1335469|NCIT:C7055	
MONDO:0003531	biolink:Disease	papillary eccrine carcinoma		SCTID:254709009|DOID:5591|UMLS:C1367774|NCIT:C27254	mondo.json	tubular apocrine adenoma|papillary apocrine fibroadenoma|papillary eccrine carcinoma|papillary eccrine adenoma|eccrine papillary adenocarcinoma|digital papillary adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003531	UMLS:C1367774|DOID:5591|http://identifiers.org/snomedct/254709009|NCIT:C27254	
GO:0050976	biolink:NamedThing	detection of mechanical stimulus involved in sensory perception of touch	The series of events involved in the perception of touch in which a mechanical stimulus is received and converted into a molecular signal.		mondo.json	sensory detection of mechanical stimulus during perception of touch|perception of touch, sensory detection of mechanical stimulus|perception of touch, detection of mechanical stimulus|tactition, sensory detection of mechanical stimulus|sensory transduction of mechanical stimulus during perception of touch|perception of touch, sensory transduction of mechanical stimulus	http://purl.obolibrary.org/obo/GO_0050976		
MONDO:0003532	biolink:Disease	breast papillary carcinoma	A breast carcinoma characterized by the formation of irregular, finger-like projections of fibrous stroma covered with neoplastic epithelial cells.	NCIT:C9134|DOID:5592|UMLS:C3812899|UMLS:C1336027	mondo.json	papillary carcinoma of breast|papillary carcinoma of the breast|solid papillary carcinoma of the breast|Papillary breast cancer|breast solid papillary carcinoma|breast papillary carcinoma|papillary breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0003532	UMLS:C1336027|UMLS:C3812899|NCIT:C9134|DOID:5592	
GO:0050974	biolink:NamedThing	detection of mechanical stimulus involved in sensory perception	The series of events in which a mechanical stimulus is received and converted into a molecular signal as part of sensory perception.		mondo.json	sensory perception, sensory transduction of mechanical stimulus|sensory perception, sensory detection of mechanical stimulus|sensory transduction of mechanical stimulus during sensory perception|sensory detection of mechanical stimulus during sensory perception|sensory transduction of mechanical stimulus|sensory detection of mechanical stimulus	http://purl.obolibrary.org/obo/GO_0050974		
MONDO:0003533	biolink:Disease	obsolete gastric papillary adenocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003533		
GO:0050975	biolink:NamedThing	sensory perception of touch	The series of events required for an organism to receive a touch stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. The perception of touch in animals is mediated by mechanoreceptors in the skin and mucous membranes and is the sense by which contact with objects gives evidence as to certain of their qualities. Different types of touch can be perceived (for example, light, coarse, pressure and tickling) and the stimulus may be external or internal (e.g. the feeling of a full stomach).		mondo.json	taction|tactile sense|perception of touch|tactition	http://purl.obolibrary.org/obo/GO_0050975		
MONDO:0003534	biolink:Disease	papillary thymic adenocarcinoma	A rare primary thymic adenocarcinoma, characterized by a papillary growth pattern. There are only a few published cases, and no good data regarding prognosis.	DOID:5595|NCIT:C27937|UMLS:C1335327	mondo.json	thymus papillary adenocarcinoma|papillary carcinoma of the Thymus|Thymus papillary carcinoma|thymic papillary carcinoma|papillary carcinoma of Thymus|thymic papillary adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003534	NCIT:C27937|UMLS:C1335327|DOID:5595	
UBERON:0012375	biolink:AnatomicalEntity	subserosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012375		
MONDO:0003530	biolink:Disease	aggressive digital papillary adenocarcinoma		DOID:5590|ONCOTREE:ADPA	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003530	DOID:5590	
UBERON:0012373	biolink:AnatomicalEntity	sympathetic nerve plexus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012373		
UBERON:0012378	biolink:AnatomicalEntity	muscle layer of urinary bladder			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012378		
UBERON:0012377	biolink:AnatomicalEntity	muscle layer of jejunum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012377		
MONDO:0015502	biolink:Disease	obsolete pinnae and external auditory canal anomaly		Orphanet:156243	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015502	Orphanet:156243	ordo_group_of_disorders|disease_grouping
UBERON:0000390	biolink:AnatomicalEntity	lens nucleus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000390		
MONDO:0015501	biolink:Disease	obsolete syndrome or malformation associated with head and neck malformations		UMLS:CN199635|Orphanet:156237	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015501	UMLS:CN199635|Orphanet:156237	ordo_group_of_disorders
UBERON:0000391	biolink:AnatomicalEntity	leptomeninx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000391		
MONDO:0015500	biolink:Disease	facial arteriovenous malformation	Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy.	GARD:0012663|Orphanet:156230	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015500	Orphanet:156230	ordo_group_of_disorders|disease_grouping|gard_rare
MONDO:0015506	biolink:Disease	obsolete rare syndrome with cardiac malformations		Orphanet:156532|UMLS:CN199638	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015506	UMLS:CN199638|Orphanet:156532	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0015505	biolink:Disease	tracheal anomaly		Orphanet:156252	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015505	Orphanet:156252	ordo_group_of_disorders|disease_grouping
MONDO:0015504	biolink:Disease	larynx anomaly		Orphanet:156249	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015504	Orphanet:156249	ordo_group_of_disorders|disease_grouping
MONDO:0015503	biolink:Disease	nose and cavum anomaly		Orphanet:156246	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015503	Orphanet:156246	disease_grouping|ordo_group_of_disorders
UBERON:0000398	biolink:AnatomicalEntity	cartilage tissue of sternum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000398		
UBERON:0000399	biolink:AnatomicalEntity	jejunal mucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000399		
MONDO:0003528	biolink:Disease	Volkmann contracture	An ischemic contracture of the forearm that most often occurs secondary to trauma.	MESH:D054061|NCIT:C35130|ICD9:958.6|SCTID:111247001|DOID:5587|UMLS:C0042951	mondo.json	Volkmann's ischemic contracture	http://purl.obolibrary.org/obo/MONDO_0003528	DOID:5587|UMLS:C0042951|http://identifiers.org/snomedct/111247001|NCIT:C35130|http://identifiers.org/mesh/D054061	
MONDO:0003529	biolink:Disease	acute pyelonephritis	Sudden onset pyelonephritis.	ICD9:590.1|DOID:559|SCTID:36689008|NCIT:C123215|UMLS:C0520575|ICD10CM:N10	mondo.json	pyelonephritis, acute	http://purl.obolibrary.org/obo/MONDO_0003529	DOID:559|http://identifiers.org/snomedct/36689008|http://purl.bioontology.org/ontology/ICD10CM/N10|UMLS:C0520575|NCIT:C123215	
CL:0002491	biolink:Cell	auditory epithelial cell	A specialized cell involved in auditory sensory perception.		mondo.json		http://purl.obolibrary.org/obo/CL_0002491		
UBERON:0000395	biolink:AnatomicalEntity	cochlear ganglion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000395		
CL:0002494	biolink:Cell	cardiocyte	A cell located in the heart, including both muscle and non muscle cells.	CALOHA:TS-0115|FMA:84791|BTO:0001539|FMA:83808	mondo.json	heart cell	http://purl.obolibrary.org/obo/CL_0002494		
UBERON:0000397	biolink:AnatomicalEntity	colonic epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000397		
NCBITaxon:1502	biolink:OrganismalEntity	Clostridium perfringens		PMID:1374625|GC_ID:11|PMID:184898	mondo.json	Bacterium welchii|Bacillus perfringens|Clostridium plagarum|'Clostridium plagarum'	http://purl.obolibrary.org/obo/NCBITaxon_1502		
OBO:ECTO_6000016	biolink:NamedThing	exposure to personal behavior	An exposure event involving Personal Behavior		mondo.json	Personal Behavior exposure	http://purl.obolibrary.org/obo/ECTO_6000016		
GO:0050982	biolink:NamedThing	detection of mechanical stimulus	The series of events by which a mechanical stimulus is received and converted into a molecular signal.		mondo.json		http://purl.obolibrary.org/obo/GO_0050982		
MONDO:0003586	biolink:Disease	esophagus liposarcoma	A malignant adipose tissue neoplasm of the esophagus, characterized by multivacuolated lipoblasts with hyperchromatic nuclei, a solid pattern of growth, and a rich vascular network. It arises from the mucosal and submucosal layers of the lower esophagus. Clinical presentation includes progressive dysphagia, nausea, throat discomfort, and foreign body sensation.	UMLS:C1333456|NCIT:C5705|DOID:5694	mondo.json	liposarcoma of the esophagus|esophagus liposarcoma|esophageal liposarcoma|liposarcoma of esophagus	http://purl.obolibrary.org/obo/MONDO_0003586	UMLS:C1333456|DOID:5694|NCIT:C5705	
MONDO:0003587	biolink:Disease	pediatric liposarcoma	A rare malignant neoplasm arising from adipocytes, that occurs in children. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma.	NCIT:C8091|UMLS:C0279984|DOID:5695	mondo.json	pediatric liposarcoma|childhood liposarcoma|liposarcoma	http://purl.obolibrary.org/obo/MONDO_0003587	NCIT:C8091|DOID:5695|UMLS:C0279984	
MONDO:0003588	biolink:Disease	larynx liposarcoma	A rare malignant adipose tissue neoplasm of the larynx. It predominantly affects males. Clinical presentation includes dysphonia, dysphagia and respiratory symptoms. The supraglottis is the most common site of involvement.	UMLS:C1334372|NCIT:C6021|DOID:5696	mondo.json	laryngeal liposarcoma|liposarcoma of larynx|larynx liposarcoma|lip larynx sarcoma|liposarcoma of the larynx	http://purl.obolibrary.org/obo/MONDO_0003588	DOID:5696|NCIT:C6021|UMLS:C1334372	
MONDO:0003589	biolink:Disease	liposarcoma of the ovary	A malignant adipose tissue neoplasm of the ovary.	UMLS:C1335165|DOID:5697|NCIT:C6419	mondo.json	liposarcoma of ovary|ovary liposarcoma|ovarian liposarcoma	http://purl.obolibrary.org/obo/MONDO_0003589	DOID:5697|NCIT:C6419|UMLS:C1335165	
MONDO:0003582	biolink:Disease	hereditary breast ovarian cancer syndrome	An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer.	ICD10CM:C50|OMIMPS:604370|MESH:D061325|GARD:0012352|GARD:0012351|DOID:5683|Orphanet:145|UMLS:C0677776|SCTID:718220008|NCIT:C8493	mondo.json	hereditary breast and ovarian cancer syndrome|syndromes, HBOC|syndrome, HBOC|breast-ovarian cancer, familial, susceptibility to|HBOC syndrome|BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC)|hereditary breast ovarian cancer|BRCA1- and BRCA2-associated hereditary breast and ovarian cancer|HBOC syndromes|hereditary breast and ovarian cancer|hereditary breast/ovarian cancer (BRCA1, BRCA2)|familial breast and ovarian cancer syndrome|familial breast/ovarian cancer (BRCA1, BRCA2)|hereditary breast ovarian cancer syndrome	http://purl.obolibrary.org/obo/MONDO_0003582	Orphanet:145|http://identifiers.org/snomedct/718220008|DOID:5683|NCIT:C8493|https://omim.org/phenotypicSeries/PS604370|http://identifiers.org/mesh/D061325|UMLS:C0677776	predisposition|ordo_disease|clingen
GO:0106119	biolink:NamedThing	negative regulation of sterol biosynthetic process	Any process that stops, prevents or reduces the frequency, rate or extent of a sterol biosynthetic process.		mondo.json		http://purl.obolibrary.org/obo/GO_0106119		
MONDO:0003583	biolink:Disease	obsolete atypical lipomatous tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003583		
GO:0106118	biolink:NamedThing	regulation of sterol biosynthetic process	Any process that modulates the frequency, rate or extent of a sterol biosynthetic process.		mondo.json		http://purl.obolibrary.org/obo/GO_0106118		
MONDO:0003584	biolink:Disease	visual cortex disorder	A disease involving the visual cortex.	ICD10CM:H47.6|UMLS:C0234398|SCTID:128329001|NCIT:C35275|DOID:5691|ICD9:377.7	mondo.json	visual cortex disease|disease or disorder of visual cortex|visual cortex disorder|visual cortex dysfunction|disease of visual cortex|visual cortex disease or disorder|disorder of visual cortex	http://purl.obolibrary.org/obo/MONDO_0003584	DOID:5691|http://identifiers.org/snomedct/128329001|UMLS:C0234398|http://purl.bioontology.org/ontology/ICD10CM/H47.6	
MONDO:0003585	biolink:Disease	adult liposarcoma	A malignant neoplasm arising from adipocytes, that occurs in adults. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma.	NCIT:C7811|UMLS:C0278608|DOID:5693	mondo.json	adult liposarcoma|liposarcoma of adults|liposarcoma	http://purl.obolibrary.org/obo/MONDO_0003585	UMLS:C0278608|DOID:5693|NCIT:C7811	
MONDO:0003580	biolink:Disease	obsolete embryonal testis carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003580		
MONDO:0003581	biolink:Disease	ovarian embryonal carcinoma	An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain.	SCTID:254872007|NCIT:C8108|UMLS:C0346183|DOID:5681|EFO:1000415|ONCOTREE:OEC	mondo.json	ovary embryonal carcinoma|embryonal carcinoma of the ovary|embryonal carcinoma|embryonal carcinoma of ovary|ovarian embryonal carcinoma	http://purl.obolibrary.org/obo/MONDO_0003581	NCIT:C8108|DOID:5681|http://identifiers.org/snomedct/254872007|UMLS:C0346183	
UBERON:0036337	biolink:AnatomicalEntity	wall of appendix			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036337		
MONDO:0015579	biolink:Disease	Hb Bart's hydrops fetalis	Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.	SCTID:5300004|Orphanet:163596|ICD9:282.49	mondo.json	homozygous alpha0-thalassemia|Alpha-thalassemia hydrops fetalis|Hemoglobin Bart's hydrops fetalis|Alpha-thalassemia major	http://purl.obolibrary.org/obo/MONDO_0015579	Orphanet:163596|http://identifiers.org/snomedct/5300004	ordo_clinical_subtype
MONDO:0015578	biolink:Disease	obsolete rare mycosis	OBSOLETE. Rare fungal infectious disease.	Orphanet:163591	mondo.json	rare fungal infectious disease	http://purl.obolibrary.org/obo/MONDO_0015578	Orphanet:163591	ordo_group_of_disorders|disease_grouping|obsoletion_candidate
UBERON:0036328	biolink:AnatomicalEntity	wall of coronary artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036328		
CL:0002465	biolink:Cell	CD11b-positive dendritic cell	A conventional dendritic cell that expresses CD11b (ITGAM).		mondo.json		http://purl.obolibrary.org/obo/CL_0002465		
MONDO:0015577	biolink:Disease	obsolete rare parasitic disease	OBSOLETE. Any of the forms of parasitic infection that have a rare incidence.	UMLS:CN199940|Orphanet:163588	mondo.json	rare parasitic infection|rare parasitic infectious disease	http://purl.obolibrary.org/obo/MONDO_0015577	Orphanet:163588|UMLS:CN199940	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0015576	biolink:Disease	obsolete rare viral disease	OBSOLETE. Rare viral disease.	Orphanet:163585|UMLS:CN199939	mondo.json	rare viral infectious disease|rare viral disease	http://purl.obolibrary.org/obo/MONDO_0015576	Orphanet:163585|UMLS:CN199939	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
HP:0032039	biolink:PhenotypicFeature	Abnormality of the ocular adnexa	An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.		mondo.json		http://purl.obolibrary.org/obo/HP_0032039		
MONDO:0015571	biolink:Disease	deletion 5q35	Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.	MESH:C537647|SCTID:721158009|Orphanet:1627	mondo.json	deletion type 5q35|Del (5)(qter)|Del (5)(q35)|monosomy 5q35|distal 5q deletion|telomeric deletion 5q	http://purl.obolibrary.org/obo/MONDO_0015571	Orphanet:1627|http://identifiers.org/mesh/C537647|http://identifiers.org/snomedct/721158009	ordo_malformation_syndrome
MONDO:0015570	biolink:Disease	isolated congenital auditory ossicle malformation	Isolated congenital auditory ossicle malformation is a rare, congential, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non- progressive, conductive hearing loss often associated with speech delay and poor school performance.	Orphanet:162526	mondo.json	congenital auditory ossicle malformation without external ear abnormality	http://purl.obolibrary.org/obo/MONDO_0015570	Orphanet:162526	ordo_morphological_anomaly
MONDO:0015575	biolink:Disease	obsolete rare bacterial infectious disease	OBSOLETE. Rare bacterial infectious disease.	Orphanet:163582	mondo.json	rare bacterial infectious disease	http://purl.obolibrary.org/obo/MONDO_0015575	Orphanet:163582	ordo_group_of_disorders|disease_grouping|obsoletion_candidate
NCBITaxon:2082224	biolink:OrganismalEntity	Strongyloidoidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2082224		
MONDO:0015574	biolink:Disease	chronic cutaneous lupus erythematosus	Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis.	Orphanet:163531|MedDRA:10057929|UMLS:CN226705	mondo.json	cutaneous lupus erythematosus, chronic	http://purl.obolibrary.org/obo/MONDO_0015574	UMLS:CN226705|Orphanet:163531	disease_grouping|ordo_group_of_disorders
NCBITaxon:2082223	biolink:OrganismalEntity	Panagrolaimomorpha		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2082223		
MONDO:0015573	biolink:Disease	subacute cutaneous lupus erythematosus	Subacute cutaneous lupus erythematosus (SCLE) is a form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. SCLE is associated with anti-Ro/SSA antibodies and can be drug-induced.	NCIT:C117111|ICD10CM:L93.1|SCTID:239891002|MedDRA:10057903|Orphanet:163525|UMLS:C0024140	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015573	http://identifiers.org/snomedct/239891002|UMLS:C0024140|Orphanet:163525|NCIT:C117111|http://purl.bioontology.org/ontology/ICD10CM/L93.1	ordo_disease
HGNC:12572	biolink:NamedThing	UNG			mondo.json		http://identifiers.org/hgnc/12572		
MONDO:0015572	biolink:Disease	obsolete cerebral malformation due to abnormal neuronal migration		Orphanet:163209	mondo.json	non-syndromic cerebral malformation due to abnormal neuronal migration|brain malformation due to abnormal neuronal migration	http://purl.obolibrary.org/obo/MONDO_0015572	Orphanet:163209	ordo_group_of_disorders
CL:0002460	biolink:Cell	CD8alpha-negative thymic conventional dendritic cell	A conventional thymic dendritic cell that is CD8alpha-negative.		mondo.json	DC.8-.Th	http://purl.obolibrary.org/obo/CL_0002460		
GO:0050994	biolink:NamedThing	regulation of lipid catabolic process	Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of lipids.		mondo.json	regulation of lipid catabolism|regulation of lipid degradation|regulation of lipid breakdown	http://purl.obolibrary.org/obo/GO_0050994		
GO:0106122	biolink:NamedThing	negative regulation of cobalamin metabolic process	Any process that stops, prevents or reduces the frequency, rate or extent of a cobalamin metabolic process.		mondo.json		http://purl.obolibrary.org/obo/GO_0106122		
GO:0050995	biolink:NamedThing	negative regulation of lipid catabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of lipids.		mondo.json	downregulation of lipid catabolic process|negative regulation of lipid degradation|inhibition of lipid catabolic process|negative regulation of lipid breakdown|negative regulation of lipid catabolism|down-regulation of lipid catabolic process|down regulation of lipid catabolic process	http://purl.obolibrary.org/obo/GO_0050995		
GO:0106121	biolink:NamedThing	positive regulation of cobalamin metabolic process	Any process that activates or increases the frequency, rate or extent of a cobalamin metabolic process.		mondo.json		http://purl.obolibrary.org/obo/GO_0106121		
HGNC:24565	biolink:NamedThing	KANSL1			mondo.json		http://identifiers.org/hgnc/24565		
GO:0106120	biolink:NamedThing	positive regulation of sterol biosynthetic process	Any process that activates or increases the frequency, rate or extent of a sterol biosynthetic process.		mondo.json		http://purl.obolibrary.org/obo/GO_0106120		
NCBITaxon:1513	biolink:OrganismalEntity	Clostridium tetani		GC_ID:11	mondo.json	Bacillus tetani	http://purl.obolibrary.org/obo/NCBITaxon_1513		
MONDO:0003597	biolink:Disease	obsolete MONDO:0003597			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003597		
MONDO:0003598	biolink:Disease	median nerve neuropathy	Disease involving the median nerve, from its origin at the brachial plexus to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (carpal tunnel syndrome).	ICD9:354.1|SCTID:397828008|MESH:D020423|DOID:571	mondo.json	median nerve palsy|median nerve peripheral neuropathy|median neuropathy|peripheral neuropathy of median nerve	http://purl.obolibrary.org/obo/MONDO_0003598	DOID:571|http://identifiers.org/snomedct/397828008|http://identifiers.org/mesh/D020423	
MONDO:0003599	biolink:Disease	vulvar liposarcoma	A rare malignant adipose tissue neoplasm of the vulva.	UMLS:C2184082|DOID:5711|NCIT:C40321	mondo.json	liposarcoma of mammalian vulva|mammalian vulva liposarcoma|vulvar liposarcoma	http://purl.obolibrary.org/obo/MONDO_0003599	DOID:5711|UMLS:C2184082|NCIT:C40321	
GO:0050996	biolink:NamedThing	positive regulation of lipid catabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of lipids.		mondo.json	up-regulation of lipid catabolic process|positive regulation of lipid breakdown|up regulation of lipid catabolic process|activation of lipid catabolic process|stimulation of lipid catabolic process|upregulation of lipid catabolic process|positive regulation of lipid catabolism|positive regulation of lipid degradation	http://purl.obolibrary.org/obo/GO_0050996		
MONDO:0003593	biolink:Disease	breast liposarcoma	A malignant adipose tissue neoplasm of the breast.	DOID:5701|NCIT:C5187|UMLS:C1332632	mondo.json	liposarcoma of breast|liposarcoma of the breast|breast liposarcoma	http://purl.obolibrary.org/obo/MONDO_0003593	UMLS:C1332632|DOID:5701|NCIT:C5187	
UBERON:0036343	biolink:AnatomicalEntity	wall of gallbladder			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036343		
MONDO:0003594	biolink:Disease	mixed liposarcoma	A malignant neoplasm characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma.	NCIT:C4253|ICDO:8855/3|UMLS:C0334472|DOID:5703	mondo.json	mixed liposarcoma|mixed liposarcoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003594	DOID:5703|NCIT:C4253|UMLS:C0334472	
MONDO:0003595	biolink:Disease	sclerosing liposarcoma	A morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum and paratesticular area. It is characterized by the presence of bizarre hyperchromatic stromal cells and rare multivacuolated lipoblasts within a fibrous stroma.	SCTID:404068003|ICD9:171.9|DOID:5704|UMLS:C0334469|NCIT:C6507	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003595	DOID:5704|http://identifiers.org/snomedct/404068003|NCIT:C6507|UMLS:C0334469	
MONDO:0003596	biolink:Disease	spindle cell liposarcoma	A morphologic variant of well differentiated liposarcoma characterized by the presence of bland spindle cells and lipoblasts within a myxoid or fibrous stroma.	ICD9:171.9|NCIT:C27489|SCTID:404073009|UMLS:C1275275|DOID:5705	mondo.json	spindle cell liposarcoma	http://purl.obolibrary.org/obo/MONDO_0003596	http://identifiers.org/snomedct/404073009|DOID:5705|NCIT:C27489|UMLS:C1275275	
MONDO:0003590	biolink:Disease	fibroblastic liposarcoma	A liposarcoma characterized by the presence of a fibroblastic component.	DOID:5698|NCIT:C6509|ICDO:8857/3|UMLS:C1266130	mondo.json	fibroblastic liposarcoma (morphologic abnormality)|fibroblastic liposarcoma	http://purl.obolibrary.org/obo/MONDO_0003590	NCIT:C6509|UMLS:C1266130|DOID:5698	
HGNC:24564	biolink:NamedThing	C2CD3			mondo.json		http://identifiers.org/hgnc/24564		
MONDO:0003591	biolink:Disease	kidney liposarcoma	A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis.	DOID:5699|UMLS:C1335745|NCIT:C6185	mondo.json	renal liposarcoma|liposarcoma of the kidney|liposarcoma of kidney|kidney liposarcoma	http://purl.obolibrary.org/obo/MONDO_0003591	NCIT:C6185|UMLS:C1335745|DOID:5699	
MONDO:0003592	biolink:Disease	gastric liposarcoma	A malignant adipose tissue neoplasm of the stomach.	UMLS:C1333778|DOID:5700|NCIT:C5488	mondo.json	liposarcoma of the stomach|stomach liposarcoma|liposarcoma of stomach|gastric liposarcoma	http://purl.obolibrary.org/obo/MONDO_0003592	DOID:5700|NCIT:C5488|UMLS:C1333778	
MONDO:0015568	biolink:Disease	isolated congenital nasal pyriform aperture stenosis		Orphanet:162516	mondo.json	isolated apertura pyriformis stenosis|isolated nasal pyriform aperture hypoplasia	http://purl.obolibrary.org/obo/MONDO_0015568	Orphanet:162516	ordo_malformation_syndrome
MONDO:0015567	biolink:Disease	cataract-glaucoma syndrome	Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.	GARD:0001160|UMLS:CN199931|Orphanet:162|SCTID:718851007	mondo.json	cataract - glaucoma	http://purl.obolibrary.org/obo/MONDO_0015567	Orphanet:162|http://identifiers.org/snomedct/718851007|UMLS:CN199931	ordo_malformation_syndrome|gard_rare
MONDO:0015566	biolink:Disease	2q24 microdeletion syndrome	2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.	GARD:0003746|MESH:C538316|UMLS:CN036809|SCTID:719658006|Orphanet:1617	mondo.json	2q24 deletion|Del(2)(q24)|chromosome 2q24 microdeletion syndrome|monosomy 2q24|deletion 2q24	http://purl.obolibrary.org/obo/MONDO_0015566	http://identifiers.org/mesh/C538316|Orphanet:1617|UMLS:CN036809|http://identifiers.org/snomedct/719658006	ordo_malformation_syndrome
GO:0060300	biolink:NamedThing	regulation of cytokine activity	Any process that modulates the rate, frequency or extent of the activity of a molecule that controls the survival, growth, differentiation and effector function of tissues and cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0060300		
MONDO:0015565	biolink:Disease	cap polyposis	Cap polyposis (CP) is a rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea.	UMLS:C4303971|SCTID:720604008|Orphanet:160148	mondo.json	Cap inflammatory polyposis|polypoid prolapsing folds|eroded polypoid hyperplasia|inflammatory myoglandular polyps	http://purl.obolibrary.org/obo/MONDO_0015565	http://identifiers.org/snomedct/720604008|UMLS:C4303971|Orphanet:160148	ordo_disease
HGNC:12586	biolink:NamedThing	UQCRC2			mondo.json		http://identifiers.org/hgnc/12586		
GO:0060301	biolink:NamedThing	positive regulation of cytokine activity	Any process that increases the rate, frequency or extent of the activity of a molecule that controls the survival, growth, differentiation and effector function of tissues and cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0060301		
GO:0060302	biolink:NamedThing	negative regulation of cytokine activity	Any process that decreases the rate, frequency or extent of the activity of a molecule that controls the survival, growth, differentiation and effector function of tissues and cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0060302		
MONDO:0015569	biolink:Disease	congenital nasal pyriform aperture stenosis with holoprosencephaly		Orphanet:162521	mondo.json	apertura pyriformis with holoprosencephaly	http://purl.obolibrary.org/obo/MONDO_0015569	Orphanet:162521	ordo_malformation_syndrome
GO:0098936	biolink:NamedThing	intrinsic component of postsynaptic membrane	The component of the postsynaptic membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane.		mondo.json	intrinsic to postsynaptic membrane	http://purl.obolibrary.org/obo/GO_0098936		
MONDO:0015560	biolink:Disease	obsolete classic mast cell leukemia		Orphanet:158796	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015560	Orphanet:158796	
MONDO:0015564	biolink:Disease	Castleman disease	Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms.	UMLS:CN199886|OMIM:148000|GARD:0012656|MedDRA:10050251|EFO:1001332|Orphanet:160|NCIT:C3056|GARD:0000673|ICD10CM:D47.Z2|UMLS:C2931179|UMLS:C0017531|DOID:0111157|SCTID:207036003|MESH:D005871	mondo.json	Castleman's disease|angiofollicular lymphoid hyperplasia|AFLH|GLNH|ALNH|angiofollicular ganglionic hyperplasia|lymphoid hamartoma|giant lymph node hyperplasia|Castleman disease|Castleman's tumor|angiofollicular lymph hyperplasia|angiofollicular lymph node hyperplasia	http://purl.obolibrary.org/obo/MONDO_0015564	Orphanet:160|DOID:0111157|http://purl.bioontology.org/ontology/ICD10CM/D47.Z2|UMLS:C2931179|UMLS:CN199886|http://identifiers.org/snomedct/207036003|UMLS:C0017531|http://identifiers.org/mesh/D005871|NCIT:C3056	gard_rare|ordo_disease
MONDO:0015563	biolink:Disease	obsolete blue cone monochromatism			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015563		
MONDO:0015562	biolink:Disease	distal monosomy 17q	Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2).	GARD:0010972|UMLS:C4275171|Orphanet:1597|SCTID:715365000	mondo.json	chromosome 17q deletion|deletion 17q|distal 17q deletion|distal monosomy type 17q|monosomy 17q|partial monosomy 17q|17q deletion|monosomy 17qter|telomeric deletion 17q|17q monosomy	http://purl.obolibrary.org/obo/MONDO_0015562	Orphanet:1597|UMLS:C4275171|http://identifiers.org/snomedct/715365000	ordo_malformation_syndrome
MONDO:0015561	biolink:Disease	obsolete aleukemic mast cell leukemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015561		
HGNC:12582	biolink:NamedThing	UQCRB			mondo.json		http://identifiers.org/hgnc/12582		
MONDO:0003568	biolink:Disease	disorder of optic chiasm	A disease that involves the optic chiasma.	ICD9:377.63|ICD10CM:H47.4|SCTID:70476006|UMLS:C0155307|DOID:5655|ICD9:377.5	mondo.json	disease or disorder of optic chiasma|chiasma syndrome|chiasmal syndrome|optic chiasma disease or disorder|optic chiasma disease|disease of optic chiasma|disorder of optic chiasma|disorder of optic chiasm	http://purl.obolibrary.org/obo/MONDO_0003568	http://identifiers.org/snomedct/70476006|DOID:5655|UMLS:C0155307|http://purl.bioontology.org/ontology/ICD10CM/H47.4	
MONDO:0003569	biolink:Disease	cranial nerve neuropathy	A neoplastic or non-neoplastic disorder that affects one of the cranial nerves.	NCIT:C26733|MESH:D003389|SCTID:73013002|ICD9:352.9|DOID:5656|UMLS:C0010266	mondo.json	cranial neuropathy|cranial neuron projection bundle disease or disorder|cranial nerve disease|disorder of cranial neuron projection bundle|cranial nerve disorder|disease of cranial neuron projection bundle|disorder of cranial nerve|disease or disorder of cranial neuron projection bundle|cranial neuron projection bundle disease	http://purl.obolibrary.org/obo/MONDO_0003569	NCIT:C26733|http://identifiers.org/mesh/D003389|DOID:5656|http://identifiers.org/snomedct/73013002|UMLS:C0010266	
MONDO:0003564	biolink:Disease	localized pulmonary fibrosis	Replacement of the lung tissue by connective tissue in a specific area of the lung.	UMLS:C0340127|NCIT:C27103|DOID:5642|SCTID:233726000	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003564	DOID:5642|NCIT:C27103|UMLS:C0340127|http://identifiers.org/snomedct/233726000	
MONDO:0003565	biolink:Disease	urethral villous adenoma	An epithelial neoplasm of the urethra, which is morphologically characterized by the presence of a villous architectural pattern.	NCIT:C39872|UMLS:C1519828|DOID:5643	mondo.json	urethral villous adenoma|urethra villous adenoma	http://purl.obolibrary.org/obo/MONDO_0003565	DOID:5643|UMLS:C1519828|NCIT:C39872	
HGNC:24539	biolink:NamedThing	NECAP1			mondo.json		http://identifiers.org/hgnc/24539		
UBERON:0036352	biolink:AnatomicalEntity	wall of subclavian artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036352		
MONDO:0003566	biolink:Disease	obsolete choroid plexus carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003566		
HGNC:24537	biolink:NamedThing	CHMP2B			mondo.json		http://identifiers.org/hgnc/24537		
MONDO:0003567	biolink:Disease	bilateral hypoactive labyrinth		SCTID:194375009|UMLS:C0155518|DOID:565|ICD9:386.54	mondo.json	hypoactive labyrinth, bilateral|hypoactive bilateral labyrinthine dysfunction	http://purl.obolibrary.org/obo/MONDO_0003567	http://identifiers.org/snomedct/194375009|DOID:565|UMLS:C0155518	
UBERON:0036351	biolink:AnatomicalEntity	wall of brachiocephalic artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036351		
MONDO:0003560	biolink:Disease	obsolete adenosquamous pancreas carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003560		
MONDO:0003561	biolink:Disease	malignant giant cell tumor of soft parts	An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism.	DOID:5638|ICDO:9251/3|UMLS:C0334554|NCIT:C8380	mondo.json	malignant giant cell tumor of soft parts|malignant giant cell neoplasm of soft parts|giant cell malignant fibrous histiocytoma|undifferentiated pleomorphic sarcoma with osteoclast-like giant cells|malignant giant cell tumor of soft parts (morphologic abnormality)|giant cell fibrous histiocytoma|malignant Osteoclastoma	http://purl.obolibrary.org/obo/MONDO_0003561	DOID:5638|NCIT:C8380|UMLS:C0334554	
MONDO:0003562	biolink:Disease	rete testis neoplasm	A benign or malignant neoplasm that affects the rete testis. Representative examples include adenoma and adenocarcinoma.	UMLS:C1514912|DOID:5639|NCIT:C39955	mondo.json	tumor of rete testis|neoplasm of rete testis|rete testis tumor|rete testis neoplasm (disease)|rete testis neoplasm	http://purl.obolibrary.org/obo/MONDO_0003562	DOID:5639|UMLS:C1514912|NCIT:C39955	
MONDO:0003563	biolink:Disease	diffuse pulmonary fibrosis	Diffuse replacement of the lung tissue by connective tissue.	NCIT:C27216|UMLS:C0865849|DOID:5641	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003563	DOID:5641|NCIT:C27216|UMLS:C0865849	
MONDO:0015557	biolink:Disease	Smouldering systemic mastocytosis	Smouldering systemic mastocytosis is a type of systemic mastocytosis (SM). This clonal hematologic disease, with a slow progression, results in an accumulation of neoplastic mast cells in the visceral organs over time and patients present with splenomegaly, hypercellular marrow and, in some cases, urticaria pigmentosa-like skin lesions.	Orphanet:158775	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015557	Orphanet:158775	ordo_clinical_subtype
CL:1000279	biolink:Cell	smooth muscle cell of large intestine	A smooth muscle cell that is part of the large intestine.	FMA:15653	mondo.json	non-striated muscle fiber of large intestine	http://purl.obolibrary.org/obo/CL_1000279		
CL:1000278	biolink:Cell	smooth muscle fiber of ileum	A smooth muscle cell that is part of the ileum.	FMA:15066	mondo.json	non-striated muscle fiber of ileum	http://purl.obolibrary.org/obo/CL_1000278		
MONDO:0015556	biolink:Disease	nodular urticaria pigmentosa		Orphanet:158772	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015556	Orphanet:158772	ordo_clinical_subtype
CL:1000277	biolink:Cell	smooth muscle fiber of jejunum	A smooth muscle cell that is part of the jejunum.	FMA:15062	mondo.json	non-striated muscle fiber of jejunum	http://purl.obolibrary.org/obo/CL_1000277		
MONDO:0015555	biolink:Disease	plaque-form urticaria pigmentosa		Orphanet:158769	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015555	Orphanet:158769	ordo_clinical_subtype
CL:1000276	biolink:Cell	smooth muscle fiber of duodenum	A smooth muscle cell that is part of the duodenum.	FMA:15058	mondo.json	non-striated muscle fiber of duodenum	http://purl.obolibrary.org/obo/CL_1000276		
MONDO:0015554	biolink:Disease	typical urticaria pigmentosa		Orphanet:158766	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015554	Orphanet:158766	ordo_clinical_subtype
CL:1000275	biolink:Cell	smooth muscle cell of small intestine	A smooth muscle cell that is part of the small intestine.	FMA:15050	mondo.json	non-striated muscle fiber of small intestine	http://purl.obolibrary.org/obo/CL_1000275		
CL:1000274	biolink:Cell	trophectodermal cell			mondo.json	trophectoderm cell	http://purl.obolibrary.org/obo/CL_1000274		
HGNC:12559	biolink:NamedThing	UMOD			mondo.json		http://identifiers.org/hgnc/12559		
MONDO:0015559	biolink:Disease	lymphoadenopathic mastocytosis with eosinophilia		Orphanet:158793	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015559	Orphanet:158793	ordo_clinical_subtype
MONDO:0015558	biolink:Disease	isolated bone marrow mastocytosis		Orphanet:158778	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015558	Orphanet:158778	ordo_clinical_subtype
CL:1000272	biolink:Cell	lung secretory cell			mondo.json		http://purl.obolibrary.org/obo/CL_1000272		
CL:1000271	biolink:Cell	lung ciliated cell			mondo.json		http://purl.obolibrary.org/obo/CL_1000271		
HGNC:24529	biolink:NamedThing	TMEM98			mondo.json		http://identifiers.org/hgnc/24529		
MONDO:0015553	biolink:Disease	dystrophic epidermolysis bullosa, nails only	Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails.	UMLS:CN199732|SCTID:722436002|Orphanet:158676	mondo.json	dominant dystrophic epidermolysis bullosa, nails only|nails-only DDEB|DEB-na|nails-only DEB	http://purl.obolibrary.org/obo/MONDO_0015553	http://identifiers.org/snomedct/722436002|Orphanet:158676|UMLS:CN199732	ordo_disease
MONDO:0015552	biolink:Disease	acral dystrophic epidermolysis bullosa	Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet.	UMLS:CN199731|SCTID:733638006|Orphanet:158673|UMLS:C4518087	mondo.json	DEB-ac|DEB, acral	http://purl.obolibrary.org/obo/MONDO_0015552	http://identifiers.org/snomedct/733638006|Orphanet:158673|UMLS:CN199731|UMLS:C4518087	ordo_disease
GO:0098900	biolink:NamedThing	regulation of action potential	Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels.		mondo.json		http://purl.obolibrary.org/obo/GO_0098900		
ENVO:00000248	biolink:NamedThing	glacial valley	A valley that contains, or contained, a glacier and was formed by glacial activity. Typically U-shaped in cross-section.		mondo.json	valley	http://purl.obolibrary.org/obo/ENVO_00000248		
CHR:9606-chrXq27.2	biolink:NamedThing	Xq27.2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chrXq27.2		
MONDO:0015551	biolink:Disease	obsolete basal epidermolysis bullosa simplex	OBSOLETE. A form of epidermolysis bullosa simplex in which blistering occurs within the basal keratinocytes.	UMLS:C4302031|Orphanet:158665|SCTID:723163000	mondo.json	stratum basale of epidermis epidermolysis bullosa simplex|epidermolysis bullosa simplex of stratum basale of epidermis	http://purl.obolibrary.org/obo/MONDO_0015551	UMLS:C4302031|Orphanet:158665|http://identifiers.org/snomedct/723163000	ordo_group_of_disorders
MONDO:0015550	biolink:Disease	suprabasal epidermolysis bullosa simplex	A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes.	UMLS:C4511300|Orphanet:158661|SCTID:724840004	mondo.json	epidermolysis bullosa simplex of epidermis suprabasal layer|epidermis suprabasal layer epidermolysis bullosa simplex	http://purl.obolibrary.org/obo/MONDO_0015550	http://identifiers.org/snomedct/724840004|Orphanet:158661|UMLS:C4511300	disease_grouping|ordo_group_of_disorders
MONDO:0003579	biolink:Disease	retinal nerve fibre layer disorder	A disease that involves the nerve fiber layer of retina.	ICD9:362.85|SCTID:193428001|DOID:5678|UMLS:C3665426	mondo.json	nerve fiber layer of retina disease|nerve fiber layer of retina disease or disorder|nerve fibre bundle defect|retinal nerve fiber bundle defects|disease of nerve fiber layer of retina|disorder of nerve fiber layer of retina|retinal nerve fiber bundle deficiency|disease or disorder of nerve fiber layer of retina	http://purl.obolibrary.org/obo/MONDO_0003579	UMLS:C3665426|DOID:5678|http://identifiers.org/snomedct/193428001	
MONDO:0003575	biolink:Disease	comedocarcinoma	A high grade carcinoma characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells.	ICDO:8501/3|NCIT:C4188|UMLS:C0334370|DOID:5670	mondo.json	Comedocarcinoma|comedo carcinoma	http://purl.obolibrary.org/obo/MONDO_0003575	DOID:5670|NCIT:C4188|UMLS:C0334370	
MONDO:0003576	biolink:Disease	obsolete MONDO:0003576			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003576		
MONDO:0003577	biolink:Disease	obsolete cribriform carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003577		
MONDO:0003578	biolink:Disease	extragonadal nonseminomatous germ cell tumor	A malignant non-seminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary.	NCIT:C8885|UMLS:C1334582|DOID:5677	mondo.json	malignant tumor of the extragonadal non-seminomatous germ cell|malignant tumor of extragonadal non-seminomatous germ cell|cancer of the extragonadal non-seminomatous germ cell|cancer of extragonadal non-seminomatous germ cell|malignant extragonadal non-seminomatous germ cell neoplasm|extragonadal primary Nonseminoma|malignant extragonadal Nonseminoma|primary malignant extragonadal Nonseminoma|malignant neoplasm of the extragonadal non-seminomatous germ cell|malignant neoplasm of extragonadal non-seminomatous germ cell|extragonadal non-seminomatous germ cell cancer|malignant extragonadal non-seminomatous germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0003578	UMLS:C1334582|DOID:5677|NCIT:C8885	
UBERON:0036362	biolink:AnatomicalEntity	wall of anal canal			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036362		
MONDO:0003571	biolink:Disease	obsolete labyrinthine dysfunction		SCTID:5239005|ICD9:386.58|ICD9:386.5|DOID:566|ICD10CM:H83.2|UMLS:C0155514|ICD9:386.50	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003571	http://identifiers.org/snomedct/5239005|DOID:566|UMLS:C0155514|http://purl.bioontology.org/ontology/ICD10CM/H83.2	
MONDO:0003572	biolink:Disease	nasopharyngeal type undifferentiated carcinoma	A nonkeratinizing carcinoma which occurs predominantly in the nasopharynx but also in the tonsils and rarely in other anatomic sites. It is characterized by the presence of large malignant cells with vesicular nuclei, prominent nucleoli, syncytial growth pattern, and a lymphoplasmacytic infiltrate.	ICDO:8082/3|UMLS:C0334254|DOID:5660|NCIT:C4107	mondo.json	nasopharyngeal type undifferentiated carcinoma|lymphoepithelioma|lymphoepithelial carcinoma|Schminke tumor|lymphoepithelioma-like carcinoma|Schmincke tumor	http://purl.obolibrary.org/obo/MONDO_0003572	DOID:5660|NCIT:C4107|UMLS:C0334254	
MONDO:0003573	biolink:Disease	pleomorphic carcinoma	A usually aggressive malignant epithelial neoplasm composed of cells with significant cytologic atypia and nuclear pleomorphism.	NCIT:C4094|ICDO:8022/3|DOID:5662|UMLS:C0334233	mondo.json	pleomorphic carcinoma (morphologic abnormality)|pleomorphic carcinoma	http://purl.obolibrary.org/obo/MONDO_0003573	DOID:5662|NCIT:C4094|UMLS:C0334233	
MONDO:0003574	biolink:Disease	external ear cancer	A malignant neoplasm involving the external ear.	DOID:5665|SCTID:277156006|UMLS:C0349576|NCIT:C4653	mondo.json	external ear cancer|cancer of external ear|malignant tumor of external Ear|malignant tumor of the external Ear|malignant external ear neoplasm|malignant external Ear neoplasm|malignant neoplasm of external ear|malignant neoplasm of external Ear|malignant external Ear tumor|malignant neoplasm of the external Ear|malignant neoplasm of the external ear	http://purl.obolibrary.org/obo/MONDO_0003574	DOID:5665|UMLS:C0349576|http://identifiers.org/snomedct/277156006|NCIT:C4653	
MONDO:0003570	biolink:Disease	lipid-rich carcinoma	A carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. A representative example is the lipid-rich breast carcinoma.	UMLS:C0334318|DOID:5658|NCIT:C4152|ICDO:8314/3	mondo.json	lipid-rich carcinoma|lipid-rich carcinoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003570	DOID:5658|NCIT:C4152|UMLS:C0334318	
MONDO:0015546	biolink:Disease	non-distal monosomy 10q	Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.	Orphanet:1581	mondo.json	non-distal deletion 10q|non-telomeric monosomy 10q|non-distal monosomy type 10q	http://purl.obolibrary.org/obo/MONDO_0015546	Orphanet:1581	ordo_malformation_syndrome
GO:2001141	biolink:NamedThing	regulation of RNA biosynthetic process	Any process that modulates the frequency, rate or extent of RNA biosynthetic process.		mondo.json	regulation of RNA biosynthesis|regulation of RNA anabolism|regulation of RNA synthesis|regulation of RNA formation	http://purl.obolibrary.org/obo/GO_2001141		
MONDO:0015545	biolink:Disease	macrophage activation syndrome	A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms.	MedDRA:10053867|MESH:D055501|Orphanet:158061|UMLS:C1096155|SCTID:430478003|GARD:0012124|NCIT:C114471|EFO:1001806	mondo.json	reactive hemophagocytic lymphohistiocytosis|MAS	http://purl.obolibrary.org/obo/MONDO_0015545	http://identifiers.org/snomedct/430478003|http://identifiers.org/mesh/D055501|UMLS:C1096155|Orphanet:158061|NCIT:C114471	gard_rare|ordo_clinical_syndrome
CL:0002454	biolink:Cell	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell is a conventional dendritic cell that is CD11b-positive, CD4-negative, CD8_alpha-negative and is CD205-positive.		mondo.json	DC.8-4-11b+|spleen double-negative dendritic cell	http://purl.obolibrary.org/obo/CL_0002454		
MONDO:0015544	biolink:Disease	acquired hemophagocytic lymphohistiocytosis associated with malignant disease		UMLS:CN199702|Orphanet:158057	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015544	Orphanet:158057|UMLS:CN199702	ordo_clinical_situation
GO:0060322	biolink:NamedThing	head development	The biological process whose specific outcome is the progression of a head from an initial condition to its mature state. The head is the anterior-most division of the body.		mondo.json		http://purl.obolibrary.org/obo/GO_0060322		
HGNC:12565	biolink:NamedThing	UNC119			mondo.json		http://identifiers.org/hgnc/12565		
CL:0002453	biolink:Cell	oligodendrocyte precursor cell	A progenitor cell of the central nervous system that can differentiate into oligodendrocytes or type-2 astrocytes. This cell originates from multiple structures within the developing brain including the medial ganglion eminence and the lateral ganglionic eminence. These cells migrate throughout the central nervous system and persist into adulthood where they play an important role in remyelination of injured neurons.		mondo.json	O-2A/OPC|oligodendrocyte-type 2 astrocyte (O-2A) progenitor cell|O2A/OPC|oligodendrocyte/type-2 astrocyte progenitor cell	http://purl.obolibrary.org/obo/CL_0002453		
MONDO:0015543	biolink:Disease	obsolete hemophagocytic syndrome associated with an infection			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015543		
MONDO:0015549	biolink:Disease	obsolete rare genetic hematologic disease		Orphanet:158300|UMLS:CN199710	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015549	UMLS:CN199710|Orphanet:158300	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0015548	biolink:Disease	Huntington disease-like syndrome		SCTID:702376003|UMLS:C3711380|MESH:C580174|Orphanet:158266|ICD9:333.99	mondo.json	Huntington disease phenocopy syndrome	http://purl.obolibrary.org/obo/MONDO_0015548	http://identifiers.org/snomedct/702376003|UMLS:C3711380|Orphanet:158266|http://identifiers.org/mesh/C580174	ordo_group_of_disorders|disease_grouping
GO:0098916	biolink:NamedThing	anterograde trans-synaptic signaling	Cell-cell signaling from pre to post-synapse, across the synaptic cleft.		mondo.json		http://purl.obolibrary.org/obo/GO_0098916		
GO:0060326	biolink:NamedThing	cell chemotaxis	The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis).		mondo.json		http://purl.obolibrary.org/obo/GO_0060326		
CL:0002457	biolink:Cell	epidermal Langerhans cell	A Langerhans cell that is in the epidermis and is CD45-positive, MHCII-positive, and CD11b-positive.		mondo.json		http://purl.obolibrary.org/obo/CL_0002457		
MONDO:0015547	biolink:Disease	genetic dementia	Genetic dementia.	Orphanet:158124	mondo.json	genetic dementia	http://purl.obolibrary.org/obo/MONDO_0015547	Orphanet:158124	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0015542	biolink:Disease	secondary hemophagocytic lymphohistiocytosis	Hemophagocytic lymphohistiocytosis due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia.	UMLS:CN199700|Orphanet:158041|UMLS:C4054044|NCIT:C121184|UMLS:C0019068	mondo.json	acquired hemophagocytic syndrome|acquired hemophagocytic lymphohistiocytosis|reactive hemophagocytic syndrome	http://purl.obolibrary.org/obo/MONDO_0015542	NCIT:C121184|Orphanet:158041|UMLS:C0019068|UMLS:C4054044|UMLS:CN199700	disease_grouping|ordo_group_of_disorders
HGNC:12563	biolink:NamedThing	UMPS			mondo.json		http://identifiers.org/hgnc/12563		
MONDO:0015541	biolink:Disease	genetic hemophagocytic lymphohistiocytosis	Genetic hemophagocytic lymphohistiocytosis.	SCTID:398250003|OMIMPS:267700|Orphanet:158038|MedDRA:10070904|ICD9:238.79|Orphanet:540	mondo.json	genetic hemophagocytic syndrome|familial hemophagocytic lymphohistiocytosis|primary hemophagocytic lymphohistiocytosis|genetic hemophagocytic lymphohistiocytosis	http://purl.obolibrary.org/obo/MONDO_0015541	http://identifiers.org/snomedct/398250003|https://omim.org/phenotypicSeries/PS267700|Orphanet:540	ordo_group_of_disorders|disease_grouping
MONDO:0015540	biolink:Disease	hemophagocytic syndrome	Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis).	UMLS:C0024291|ICD9:288.8|NCIT:C34792|SCTID:234437005|MedDRA:10058125|UMLS:C3887558|GARD:0006589|DOID:0050120|NCIT:C35439|Orphanet:158032	mondo.json	hemophagocytic lymphohistiocytosis|hemophagocytic syndrome|hemophagocytic disorder|FHL|familial hemophagocytic lymphohistiocytosis|familial erythrophagocytic lymphohistiocytosis|familial histiocytic reticulosis|haemophagocytic syndrome|HLH	http://purl.obolibrary.org/obo/MONDO_0015540	NCIT:C35439|DOID:0050120|UMLS:C3887558|NCIT:C34792|Orphanet:158032|UMLS:C0024291|http://identifiers.org/snomedct/234437005	gard_rare|disease_grouping|ordo_group_of_disorders
MONDO:0021251	biolink:Disease	endometrium neoplasm	A neoplasm (disease) that involves the endometrium.	ICD9:239.5|MESH:D016889|NCIT:C3012|SCTID:123844007	mondo.json	tumor of the endometrium|neoplasm of endometrium|endometrium tumor|endometrium neoplasm (disease)|endometrial neoplasm|endometrial tumor|neoplasm of the endometrium|tumor of endometrium	http://purl.obolibrary.org/obo/MONDO_0021251	NCIT:C3012|http://identifiers.org/mesh/D016889|http://identifiers.org/snomedct/123844007	
MONDO:0021250	biolink:Disease	tonsil neoplasm	A neoplasm (disease) that involves the tonsil.	NCIT:C3417|SCTID:127227003	mondo.json	neoplasm of tonsil|tonsil neoplasm (disease)|tonsil tumor|tumor of the tonsil|tonsillar tumor|tonsillar neoplasms|tumor of tonsil|neoplasm of the tonsil|tonsillar neoplasm	http://purl.obolibrary.org/obo/MONDO_0021250	NCIT:C3417|http://identifiers.org/snomedct/127227003	
FOODON:00001907	biolink:NamedThing	gluten refined food product			mondo.json		http://purl.obolibrary.org/obo/FOODON_00001907		
MONDO:0021259	biolink:Disease	prostate neoplasm	A neoplasm (disease) that involves the prostate gland.	NCIT:C3343|ONCOTREE:PROSTATE|ICD9:600.1|DOID:13206	mondo.json	prostate nodule|prostate gland neoplasm|tumor of prostate gland|neoplasm of prostate|prostate tumor|neoplasm of the prostate|prostate gland neoplasm (disease)|neoplasm of prostate gland|prostate gland tumor|tumor of prostate|nodular prostate|tumor of the prostate	http://purl.obolibrary.org/obo/MONDO_0021259	DOID:13206|NCIT:C3343	
HP:0002814	biolink:PhenotypicFeature	Abnormality of the lower limb	An abnormality of the leg.	UMLS:C1096086|SNOMEDCT_US:449715001	mondo.json	Abnormality of the lower limb|Abnormality of the leg|Lower limb deformities	http://purl.obolibrary.org/obo/HP_0002814		hposlim_core
MONDO:0021258	biolink:Disease	choroid neoplasm	A neoplasm (disease) that involves the optic choroid.	NCIT:C2949	mondo.json	optic choroid neoplasm (disease)|neoplasm of optic choroid|neoplasm of the choroid|optic choroid tumor|neoplasm of choroid|choroid tumor|tumor of optic choroid|choroidal tumor|tumor of the choroid|optic choroid neoplasm|tumor of choroid|choroidal neoplasm	http://purl.obolibrary.org/obo/MONDO_0021258	NCIT:C2949	
HP:0002815	biolink:PhenotypicFeature	Abnormality of the knee	An abnormality of the knee joint or surrounding structures.	UMLS:C4025676	mondo.json	Abnormality of the knee	http://purl.obolibrary.org/obo/HP_0002815		hposlim_core
MONDO:0021257	biolink:Disease	glomus jugulare neoplasm	A neoplasm (disease) that involves the jugular body.	NCIT:C3061	mondo.json	jugular body neoplasm (disease)|neoplasm of jugular body|jugular body tumor|jugular body neoplasm|tumor of jugular body	http://purl.obolibrary.org/obo/MONDO_0021257		obsoletion_candidate
MONDO:0008279	biolink:Disease	obsolete familial adenomatous polyposis type 1			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008279		
HP:0002812	biolink:PhenotypicFeature	Coxa vara	Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.	UMLS:C0239138|MSH:D060905|SNOMEDCT_US:74820003	mondo.json		http://purl.obolibrary.org/obo/HP_0002812		
HGNC:12649	biolink:NamedThing	VAPB			mondo.json		http://identifiers.org/hgnc/12649		
MONDO:0021256	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0021256		
HP:0002813	biolink:PhenotypicFeature	Abnormality of limb bone morphology	Any abnormality of bones of the arms or legs.	UMLS:C4082761	mondo.json	Abnormal shape of limb bone|Arm and/or leg bone differences|Limb abnormality	http://purl.obolibrary.org/obo/HP_0002813		
MONDO:0021255	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0021255		
MONDO:0008277	biolink:Disease	stomach polyp	A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps).	MESH:C562464|UMLS:C0236048|SCTID:87252009|NCIT:C3954	mondo.json	polyps of the stomach|polyps of stomach|gastric polyposis|gastric polyposa|gastric polyp	http://purl.obolibrary.org/obo/MONDO_0008277	http://identifiers.org/snomedct/87252009|NCIT:C3954|http://identifiers.org/mesh/C562464	
MONDO:0021254	biolink:Disease	corpus uteri neoplasm	A neoplasm (disease) that involves the body of uterus.	NCIT:C6300|SCTID:126909004|UMLS:C1263777	mondo.json	neoplasm of uterine corpus|neoplasm of the corpus uteri|corpus uteri tumor|neoplasm of the body of uterus|uterine corpus neoplasm|uterine corpus tumor|tumor of body of uterus|neoplasm of the uterine corpus|body of uterus neoplasm (disease)|neoplasm of body of uterus|neoplasm of uterine body|tumor of corpus uteri|uterine body tumor|neoplasm of the uterine body|tumor of the corpus uteri|tumor of uterine corpus|tumor of the uterine corpus|body of uterus tumor|uterine body neoplasm|tumor of uterine body|body of uterus neoplasm|neoplasm of corpus uteri|tumor of the uterine body	http://purl.obolibrary.org/obo/MONDO_0021254	NCIT:C6300|UMLS:C1263777|http://identifiers.org/snomedct/126909004	
MONDO:0008278	biolink:Disease	juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome		MESH:C563412|OMIM:175050|UMLS:C1832942|DOID:0111543	mondo.json	JPHT|polyposis, generalized juvenile, with pulmonary arteriovenous malformation|juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|juvenile polyposis with hereditary hemorrhagic telangiectasia|JP/Hht syndrome|jPS/Hht|telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli	http://purl.obolibrary.org/obo/MONDO_0008278	UMLS:C1832942|https://omim.org/entry/175050|DOID:0111543|http://identifiers.org/mesh/C563412	
MONDO:0008275	biolink:Disease	familial expansile osteolysis		GARD:0009168|Orphanet:85195|ICD9:756.9|MESH:C536335|OMIM:174810|SCTID:254153009|DOID:0111542	mondo.json	osteolysis, familial expansile|FEO|Mccabe disease|EOF|expansile osteolysis, familial|hereditary expansile polyostotic osteolytic dysplasia|polyostotic osteolytic dysplasia, hereditary expansile|familial expansile osteolysis|HEPOD|McCabe disease	http://purl.obolibrary.org/obo/MONDO_0008275	Orphanet:85195|http://identifiers.org/snomedct/254153009|http://identifiers.org/mesh/C536335|DOID:0111542|https://omim.org/entry/174810	ordo_disease
MONDO:0021253	biolink:Disease	gallbladder neoplasm	A neoplasm (disease) that involves the gall bladder.	UMLS:C0016978|MESH:D005706|NCIT:C3048	mondo.json	neoplasm of gall bladder|gall bladder tumor|tumor of the gallbladder|tumor of gallbladder|gall bladder neoplasm|tumor of gall bladder|neoplasm of the gallbladder|gall bladder neoplasm (disease)|neoplasm of gallbladder|gallbladder tumor	http://purl.obolibrary.org/obo/MONDO_0021253	http://identifiers.org/mesh/D005706|NCIT:C3048|UMLS:C0016978	
MONDO:0008276	biolink:Disease	generalized juvenile polyposis/juvenile polyposis coli		Orphanet:329971|DOID:0050787|UMLS:CN204230	mondo.json	juvenile polyposis syndrome|juvenile intestinal polyposis|juvenile polyposis coli|generalized juvenile polyposis/juvenile polyposis coli|jPS|polyposis, juvenile intestinal|polyposis, familial, of Entire gastrointestinal tract|juvenile polyposis of stomach	http://purl.obolibrary.org/obo/MONDO_0008276	Orphanet:329971|DOID:0050787|UMLS:CN204230	clingen|ordo_clinical_subtype
HP:0002817	biolink:PhenotypicFeature	Abnormality of the upper limb	An abnormality of the arm.	UMLS:C4020900	mondo.json	Abnormality of the arm|Abnormality of the upper limb	http://purl.obolibrary.org/obo/HP_0002817		
MONDO:0021252	biolink:Disease	obsolete lung hilum neoplasm			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021252		
MONDO:0008273	biolink:Disease	actinic prurigo		SCTID:201015007|OMIM:174770|MESH:C566780|Orphanet:330061|UMLS:C0406217	mondo.json	Hutchinson summer prurigo|polymorphic Light eruption, hereditary|hydroa aestivale|familial polymorphous light eruption of American Indians|actinic prurigo|hereditary polymorphous light eruption of American Indians|juvenile Spring eruption of ears	http://purl.obolibrary.org/obo/MONDO_0008273	UMLS:C0406217|http://identifiers.org/mesh/C566780|Orphanet:330061|https://omim.org/entry/174770|http://identifiers.org/snomedct/201015007	ordo_disease
MONDO:0008274	biolink:Disease	polyostotic fibrous dysplasia	Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome.	SCTID:36517007|MESH:D005359|ICD9:756.54|Orphanet:93276|MedDRA:10036120|NCIT:C34610|ICD10CM:Q78.1	mondo.json	polyostotic fibrous dysplasia of bone|fibrous dysplasia of bone	http://purl.obolibrary.org/obo/MONDO_0008274	http://identifiers.org/snomedct/36517007|http://purl.bioontology.org/ontology/ICD10CM/Q78.1|NCIT:C34610|http://identifiers.org/mesh/D005359|Orphanet:93276	ordo_clinical_subtype
MONDO:0008271	biolink:Disease	polydactyly of an index finger	Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962.	Orphanet:93337|MESH:C566784|UMLS:C1868113|GARD:0002256|OMIM:174600|SCTID:723446006	mondo.json	PPD3|polydactyly, preaxial III|index finger polydactyly|preaxial polydactyly type 3|polydactyly, preaxial 3|polydactyly, preaxial type 3	http://purl.obolibrary.org/obo/MONDO_0008271	UMLS:C1868113|http://identifiers.org/mesh/C566784|https://omim.org/entry/174600|http://identifiers.org/snomedct/723446006|Orphanet:93337	ordo_morphological_anomaly
MONDO:0008272	biolink:Disease	polysyndactyly 4	Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.	Orphanet:93338|MedDRA:10063143|GARD:0009903|UMLS:C1868111|OMIM:174700|ICD9:755.10|GARD:0001616	mondo.json	PPD4|polysyndactyly uncomplicated|preaxial polydactyly 4|crossed polydactyly type 1|preaxial polydactyly type 4|polydactyly, preaxial IV|polydactyly, preaxial, type IV|polysyndactyly, uncomplicated|polydactyly preaxial 4|polydactyly, preaxial 4|polydactyly, preaxial type 4|crossed polydactyly, type 1	http://purl.obolibrary.org/obo/MONDO_0008272	UMLS:C1868111|https://omim.org/entry/174700|Orphanet:93338	gard_rare|ordo_morphological_anomaly
MONDO:0008270	biolink:Disease	polydactyly of a triphalangeal thumb	A form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia.	Orphanet:93336|UMLS:C1868114|Orphanet:2950|OMIM:174500|GARD:0005289|SCTID:715710001	mondo.json	polydactyly of triphalangeal thumb|triphalangeal thumb-polysyndactyly syndrome|preaxial polydactyly type 2|triphalangeal thumb with polysyndactyly|polydactyly, preaxial II|polydactyly, preaxial 2|polydactyly, preaxial type 2|triphalangeal thumb|triphalangeal thumb, type i|polydactyly, preaxial type II|PPD2|TPT-PS syndrome|triphalangeal thumb-polydactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0008270	UMLS:C1868114|https://omim.org/entry/174500|http://identifiers.org/snomedct/715710001|Orphanet:93336	ordo_morphological_anomaly
MONDO:0021249	biolink:Disease	lip neoplasm	A neoplasm (disease) that involves the lip.	SCTID:126770008|NCIT:C3191|ICD10CM:C00-C14	mondo.json	lip neoplasms|tumor of the Lip|lip tumor|tumor of Lip|tumor of lip|lip neoplasm (disease)|neoplasm of the Lip|neoplasm of Lip|neoplasm of lip	http://purl.obolibrary.org/obo/MONDO_0021249	http://identifiers.org/snomedct/126770008|NCIT:C3191	
FOODON:00001911	biolink:NamedThing	goat dairy food product			mondo.json		http://purl.obolibrary.org/obo/FOODON_00001911		
CHR:9606-chrXq22.3	biolink:NamedThing	Xq22.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chrXq22.3		
FOODON:00001916	biolink:NamedThing	grain based alcoholic beverage			mondo.json		http://purl.obolibrary.org/obo/FOODON_00001916		
MONDO:0021240	biolink:Disease	tongue neoplasm	A neoplasm (disease) that involves the tongue.	SCTID:126778001|EFO:0003871|NCIT:C3416	mondo.json	neoplasm of tongue|tongue tumor|tumor of the tongue|tongue neoplasm (disease)|tumor of tongue|neoplasm of the tongue	http://purl.obolibrary.org/obo/MONDO_0021240	http://identifiers.org/snomedct/126778001|NCIT:C3416	
MONDO:0021248	biolink:Disease	nervous system neoplasm	A neoplasm (disease) that involves the nervous system.	NCIT:C3268	mondo.json	neoplasm of the nervous system|nervous system neoplasm (disease)|nervous system neoplasms|neoplasm of nervous system|nervous system tumor|tumor of the nervous system|nervous system tumour|tumor of nervous system	http://purl.obolibrary.org/obo/MONDO_0021248	NCIT:C3268	
MONDO:0021247	biolink:Disease	obsolete renal pelvis neoplasm			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021247		
MONDO:0021246	biolink:Disease	pharynx neoplasm	A neoplasm (disease) that involves the pharynx.	ICD10CM:C00-C14|NCIT:C3325	mondo.json	tumor of pharynx|neoplasm of the pharynx|pharyngeal tumor|neoplasm of pharynx|pharyngeal neoplasms|tumor of the pharynx|pharynx tumor|pharynx neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0021246	NCIT:C3325	
HP:0002823	biolink:PhenotypicFeature	Abnormality of femur morphology	Any anomaly of the structure of the femur.	UMLS:C4021750	mondo.json	Abnormality of the thighbone|Abnormality of the femora	http://purl.obolibrary.org/obo/HP_0002823		
MONDO:0021245	biolink:Disease	oral cavity neoplasm	A neoplasm (disease) that involves the oral cavity.	UMLS:C0026640|SCTID:235075007|NCIT:C7606|ICD10CM:C00-C14|EFO:0003868	mondo.json	tumor of oral cavity|tumor of mouth|mouth tumor|neoplasm of oral cavity|oral cavity neoplasm (disease)|oral cavity tumor|mouth neoplasm	http://purl.obolibrary.org/obo/MONDO_0021245	UMLS:C0026640|NCIT:C7606|http://identifiers.org/snomedct/235075007	
MONDO:0021244	biolink:Disease	submandibular gland neoplasm	A neoplasm (disease) that involves the submandibular gland.	UMLS:C0038558|MESH:D013365|SCTID:254464000|NCIT:C3393|EFO:1001853	mondo.json	neoplasm of the submandibular gland|tumor of submandibular gland|tumor of the submandibular gland|neoplasm of submandibular gland|submandibular gland tumor|submandibular gland neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0021244	http://identifiers.org/mesh/D013365|UMLS:C0038558|http://identifiers.org/snomedct/254464000|NCIT:C3393	
MONDO:0008288	biolink:Disease	popliteal cyst	A synovial cyst located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint.	OMIM:175750|SCTID:82675004|MESH:D011151|ICD9:727.51	mondo.json	popliteal cyst|baker cyst	http://purl.obolibrary.org/obo/MONDO_0008288	http://identifiers.org/mesh/D011151|https://omim.org/entry/175750|http://identifiers.org/snomedct/82675004	
HP:0002829	biolink:PhenotypicFeature	Arthralgia	Joint pain.	UMLS:C0003862|MSH:D018771|SNOMEDCT_US:57676002	mondo.json	Arthralgias|Joint pain|Joint pains|Arthritic pain	http://purl.obolibrary.org/obo/HP_0002829		
MONDO:0021243	biolink:Disease	parotid gland neoplasm	A neoplasm (disease) that involves the parotid gland.	EFO:0003873|SCTID:126788000|NCIT:C3314	mondo.json	tumor of the parotid gland|neoplasm of parotid gland|parotid gland tumor|tumor of the parotid|tumor of parotid|parotid gland neoplasm (disease)|parotid neoplasm|neoplasm of the parotid gland|tumor of parotid gland|neoplasm of the parotid|neoplasm of parotid|parotid tumor	http://purl.obolibrary.org/obo/MONDO_0021243	http://identifiers.org/snomedct/126788000|NCIT:C3314	
MONDO:0008289	biolink:Disease	brain small vessel disease 1 with or without ocular anomalies	Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene.	MESH:C531642|DOID:0090125|Orphanet:36383|OMIM:175780|MESH:C564372|OMIM:607595|UMLS:CN032791	mondo.json	T1P|BSVD1|porencephaly caused by mutation in COL4A1|infantile hemiparesis|porencephaly, type 1, autosomal dominant|ADT1P|brain small vessel disease with hemorrhage|autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy|COL4A1 porencephaly|porencephaly type 1|BSVD|COL4A1-related familial vascular leukoencephalopathy|COL4A1-related brain small vessel disease with hemorrhage|hemiplegia, infantile, with porencephaly|leukoencephalopathy with axenfeld-rieger anomaly|POREN1|brain small vessel disease with Axenfeld-Riegar anomaly|porencephaly 1|brain small vessel disease with or without ocular anomalies|retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant|COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome|brain small vessel disease with axenfeld-rieger anomaly|hemiplegia, infantile, with porencephaly porencephaly, type 1	http://purl.obolibrary.org/obo/MONDO_0008289	http://identifiers.org/mesh/C531642|https://omim.org/entry/607595|UMLS:CN032791|DOID:0090125|https://omim.org/entry/175780|http://identifiers.org/mesh/C564372|Orphanet:36383	ordo_disease
MONDO:0008286	biolink:Disease	crossed polysyndactyly	Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994.	OMIM:175690|Orphanet:2935|MESH:C566773|UMLS:C1867999|GARD:0001617	mondo.json	crossed polydactyly|polysyndactyly, crossed	http://purl.obolibrary.org/obo/MONDO_0008286	Orphanet:2935|http://identifiers.org/mesh/C566773|https://omim.org/entry/175690|UMLS:C1867999	ordo_malformation_syndrome|gard_rare
MONDO:0021242	biolink:Disease	sublingual gland neoplasm	A neoplasm (disease) that involves the sublingual gland.	EFO:1001430|UMLS:C0038554|MESH:D013362|NCIT:C3392|SCTID:126790004	mondo.json	tumor of sublingual gland|neoplasm of the sublingual gland|neoplasm of sublingual gland|sublingual gland neoplasm (disease)|sublingual gland tumor|tumor of the sublingual gland	http://purl.obolibrary.org/obo/MONDO_0021242	UMLS:C0038554|http://identifiers.org/snomedct/126790004|NCIT:C3392|http://identifiers.org/mesh/D013362	
CL:0000936	biolink:Cell	early lymphoid progenitor	A lymphoid progenitor cell that is found in bone marrow, gives rise to B cells, T cells, natural killer cells and dendritic cells, and has the phenotype Lin-negative, Kit-positive, Sca-1-positive, FLT3-positive, CD34-positive, CD150 negative, and GlyA-negative.		mondo.json	ELP|GMLP|lymphoid-primed multipotent progenitor|LMPP	http://purl.obolibrary.org/obo/CL_0000936		
MONDO:0008287	biolink:Disease	Greig cephalopolysyndactyly syndrome	Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.	DOID:14761|MESH:C537300|Orphanet:380|OMIM:175700|NCIT:C35255|UMLS:C0265306|SCTID:32985001|MedDRA:10053878|GARD:0006550	mondo.json	GCPS|Greig cephalopolysyndactyly syndrome|polysyndactyly with peculiars skull shape|Greig cephalosyndactyly syndrome|Greig syndrome|Greig's syndrome|polysyndactyly with peculiar skull Shape	http://purl.obolibrary.org/obo/MONDO_0008287	NCIT:C35255|http://identifiers.org/mesh/C537300|UMLS:C0265306|Orphanet:380|DOID:14761|https://omim.org/entry/175700|http://identifiers.org/snomedct/32985001	gard_rare|ordo_malformation_syndrome
MONDO:0021241	biolink:Disease	buccal mucosa neoplasm	A neoplasm (disease) that involves the buccal mucosa.	SCTID:126802007|NCIT:C4405|UMLS:C0345563	mondo.json	neoplasm of buccal mucosa|tumor of the buccal mucosa|buccal mucosa tumor|buccal mucosa neoplasm (disease)|neoplasm of the buccal mucosa|tumor of buccal mucosa	http://purl.obolibrary.org/obo/MONDO_0021241	http://identifiers.org/snomedct/126802007|NCIT:C4405|UMLS:C0345563	
CL:0000937	biolink:Cell	pre-natural killer cell	Cell committed to natural killer cell lineage that has the phenotype CD122-positive, CD34-positive, and CD117-positive. This cell type lacks expression of natural killer receptor proteins.		mondo.json	pre-NK cell	http://purl.obolibrary.org/obo/CL_0000937		
MONDO:0008284	biolink:Disease	polyposis of gastric fundus without polyposis coli		MESH:C566775|OMIM:175505|UMLS:C1868001	mondo.json	polyposis of gastric fundus without polyposis coli|fundic gland polyposis	http://purl.obolibrary.org/obo/MONDO_0008284	UMLS:C1868001|http://identifiers.org/mesh/C566775	
HGNC:12666	biolink:NamedThing	VCP			mondo.json		http://identifiers.org/hgnc/12666		
HGNC:10004	biolink:NamedThing	RGS9			mondo.json		http://identifiers.org/hgnc/10004		
MONDO:0008285	biolink:Disease	polyps, multiple and recurrent inflammatory fibroid, gastrointestinal		MESH:C566774|UMLS:C1868000|OMIM:175510	mondo.json	polyps, multiple and recurrent inflammatory fibroid, gastrointestinal|gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial	http://purl.obolibrary.org/obo/MONDO_0008285	UMLS:C1868000|http://identifiers.org/mesh/C566774|https://omim.org/entry/175510	
HGNC:12665	biolink:NamedThing	VCL			mondo.json		http://identifiers.org/hgnc/12665		
MONDO:0008282	biolink:Disease	polyposis, intestinal, with multiple exostoses		UMLS:C1868005|OMIM:175450|MESH:C566776	mondo.json	polyposis, intestinal, with multiple exostoses	http://purl.obolibrary.org/obo/MONDO_0008282	UMLS:C1868005|http://identifiers.org/mesh/C566776|https://omim.org/entry/175450	
HGNC:10001	biolink:NamedThing	RGS5			mondo.json		http://identifiers.org/hgnc/10001		
MONDO:0008283	biolink:Disease	Cronkhite-Canada syndrome	Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.	Orphanet:2930|GARD:0004427|MedDRA:10062907|MESH:D044483|NCIT:C7035|SCTID:76304001|DOID:6225|OMIM:175500|UMLS:C0282207	mondo.json	gastric Cronkhite Canada polyposis|Cronkhite-Canada disease|gastrointestinal polyposis-ectodermal changes syndrome|gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|polyposis, skin pigmentation, alopecia, and fingernail changes|Cronkhite-Canada syndrome|polyposis skin pigmentation alopecia fingernail changes	http://purl.obolibrary.org/obo/MONDO_0008283	UMLS:C0282207|Orphanet:2930|http://identifiers.org/snomedct/76304001|NCIT:C7035|https://omim.org/entry/175500|http://identifiers.org/mesh/D044483|DOID:6225	ordo_disease|gard_rare
MONDO:0008280	biolink:Disease	Peutz-Jeghers syndrome	Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies.	MESH:D010580|MedDRA:10034764|NCIT:C4733|DOID:3852|ICD9:759.6|NCIT:C3324|Orphanet:2869|UMLS:C0031269|GARD:0007378|UMLS:C1333088|OMIM:175200|SCTID:54411001	mondo.json	hamartomatous intestinal polyposis|polyposis, hamartomatous intestinal|polyps and spots syndrome|Peutz Jeghers polyposis|PJS|Peutz Jeghers colon polyp|periorificial lentiginosis syndrome|lentiginosis, perioral|Peutz-Jeghers small bowel hamartoma|colonic hamartomatous polyp|Peutz-Jeghers polyp of small intestine|Peutz-Jeghers syndrome|Peutz's syndrome|polyps-and-Spots syndrome|Jeghers-Peutz syndrome|gastric Peutz-Jeghers polyp	http://purl.obolibrary.org/obo/MONDO_0008280	Orphanet:2869|https://omim.org/entry/175200|DOID:3852|http://identifiers.org/mesh/D010580|http://identifiers.org/snomedct/54411001|NCIT:C3324|UMLS:C0031269	ordo_disease|gard_rare|clingen
MONDO:0008281	biolink:Disease	polyposis, intestinal, scattered and discrete		UMLS:C1868006|OMIM:175400	mondo.json	polyps, scattered, discrete intestinal|polyposis, intestinal, scattered and discrete	http://purl.obolibrary.org/obo/MONDO_0008281	UMLS:C1868006|https://omim.org/entry/175400	
MONDO:0021239	biolink:Disease	urethra neoplasm	A neoplasm (disease) that involves the urethra.	EFO:0003846|NCIT:C3428	mondo.json	tumor of the urethra|neoplasm of urethra|urethra neoplasm (disease)|urethra tumor|urethral tumors|urethral tumor|urethral neoplasms|neoplasms. urethra|tumor of urethra|neoplasm of the urethra|urethra tumors|urethra neoplasms|urethral neoplasm|tumors. urethra	http://purl.obolibrary.org/obo/MONDO_0021239	NCIT:C3428	
HGNC:12668	biolink:NamedThing	VCY			mondo.json		http://identifiers.org/hgnc/12668		
HGNC:10006	biolink:NamedThing	RHAG			mondo.json		http://identifiers.org/hgnc/10006		
MONDO:0021238	biolink:Disease	cornea neoplasm	A neoplasm (disease) that involves the cornea.	UMLS:C0339304|NCIT:C4361	mondo.json	corneal tumor|tumor of cornea|neoplasm of the cornea|corneal neoplasm|cornea neoplasm (disease)|neoplasm of cornea|cornea tumor|tumor of the cornea	http://purl.obolibrary.org/obo/MONDO_0021238	UMLS:C0339304|NCIT:C4361	
MONDO:0033259	biolink:Disease	hearing loss, autosomal dominant 72		OMIM:617606|DOID:0080268	mondo.json	deafness, autosomal dominant 72|autosomal dominant nonsyndromic deafness 72|DFNA72	http://purl.obolibrary.org/obo/MONDO_0033259	https://omim.org/entry/617606|DOID:0080268	
MONDO:0033258	biolink:Disease	hearing loss, autosomal dominant 71		OMIM:617605|DOID:0080267	mondo.json	autosomal dominant nonsyndromic deafness 71|deafness, autosomal dominant 71|DFNA71	http://purl.obolibrary.org/obo/MONDO_0033258	https://omim.org/entry/617605|DOID:0080267	
HGNC:12660	biolink:NamedThing	VAX1			mondo.json		http://identifiers.org/hgnc/12660		
CL:0000906	biolink:Cell	activated CD8-positive, alpha-beta T cell	A CD8-positive, alpha-beta T cell with the phenotype CD69-positive, CD62L-negative, CD127-negative, CD25-positive, and CCR7-negative.		mondo.json	activated CD8-positive, alpha-beta T-cell|activated CD8-positive, alpha-beta T lymphocyte|activated CD8-positive, alpha-beta T-lymphocyte	http://purl.obolibrary.org/obo/CL_0000906		
CL:0000908	biolink:Cell	CD8-positive, alpha-beta cytokine secreting effector T cell	A CD8-positive, alpha-beta T cell with the phenotype CD69-positive, CD62L-negative, CD127-negative, and CD25-positive, that secretes cytokines.		mondo.json	CD8-positive, alpha-beta cytokine secreting effector T-cell|CD8-positive, alpha-beta cytokine secreting effector T lymphocyte|CD8-positive, alpha-beta cytokine secreting effector T-lymphocyte	http://purl.obolibrary.org/obo/CL_0000908		
RO:0000092	biolink:NamedThing	disposition of	inverse of has disposition		mondo.json		http://purl.obolibrary.org/obo/RO_0000092		
RO:0000091	biolink:NamedThing	has disposition	a relation between an independent continuant (the bearer) and a disposition, in which the disposition specifically depends on the bearer for its existence		mondo.json		http://purl.obolibrary.org/obo/RO_0000091		
MONDO:0008259	biolink:Disease	familial spontaneous pneumothorax	Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.	DOID:0080218|Orphanet:2903|OMIM:173600|UMLS:C4275252|UMLS:C1868193|SCTID:715219001|GARD:0004997|MESH:C566795	mondo.json	spontaneous pneumothorax|Psp|pneumothorax, primary spontaneous|primary spontaneous pneumothorax	http://purl.obolibrary.org/obo/MONDO_0008259	http://identifiers.org/snomedct/715219001|https://omim.org/entry/173600|UMLS:C4275252|DOID:0080218|Orphanet:2903|UMLS:C1868193|http://identifiers.org/mesh/C566795	ordo_disease
MONDO:0021237	biolink:Disease	adrenal medulla neoplasm	A neoplasm (disease) that involves the adrenal medulla.	UMLS:C0596046|NCIT:C4856	mondo.json	adrenal medulla neoplasm (disease)|tumor of adrenal medulla|neoplasm of adrenal medulla|adrenal medulla tumor	http://purl.obolibrary.org/obo/MONDO_0021237	NCIT:C4856|UMLS:C0596046	
MONDO:0021236	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0021236		
GO:0003097	biolink:NamedThing	renal water transport	The directed movement of water (H2O) by the renal system.		mondo.json		http://purl.obolibrary.org/obo/GO_0003097		
MONDO:0021235	biolink:Disease	external ear neoplasm	A neoplasm (disease) that involves the external ear.	UMLS:C0349575|NCIT:C4652|SCTID:277155005	mondo.json	neoplasm of external ear|tumor of external Ear|tumor of the external Ear|external ear tumor|external ear neoplasm (disease)|tumor of external ear|neoplasm of external Ear|external Ear tumor|neoplasm of the external Ear	http://purl.obolibrary.org/obo/MONDO_0021235	UMLS:C0349575|http://identifiers.org/snomedct/277155005|NCIT:C4652	
MONDO:0008257	biolink:Disease	platelet responsiveness to adrenaline, depressed		OMIM:173580	mondo.json	platelet responsiveness to adrenaline, depressed	http://purl.obolibrary.org/obo/MONDO_0008257	https://omim.org/entry/173580	
CL:0000900	biolink:Cell	naive thymus-derived CD8-positive, alpha-beta T cell	A CD8-positive, alpha-beta T cell that has not experienced activation via antigen contact and has the phenotype CD45RA-positive, CCR7-positive and CD127-positive. This cell type is also described as being CD25-negative, CD62L-high and CD44-low.		mondo.json	naive thymus-dervied CD8-positive, alpha-beta T-cell|naive thymus-dervied CD8-positive, alpha-beta T lymphocyte|naive CD8+ T cell|naive thymus-dervied CD8-positive, alpha-beta T-lymphocyte|T.8Nve.Sp	http://purl.obolibrary.org/obo/CL_0000900		
MONDO:0021234	biolink:Disease	spinal cord neoplasm	A neoplasm (disease) that involves the spinal cord.	UMLS:C0037930|MESH:D013120|NCIT:C3381	mondo.json	neoplasm of the spinal cord|tumor of spinal cord|spinal cord neoplasm (disease)|neoplasm of spinal cord|tumor of the spinal cord|spinal cord tumor	http://purl.obolibrary.org/obo/MONDO_0021234	http://identifiers.org/mesh/D013120|UMLS:C0037930|NCIT:C3381	
MONDO:0008258	biolink:Disease	platelet signal processing defect		OMIM:173590|UMLS:C1868199|MESH:C566796	mondo.json	platelet signal processing defect	http://purl.obolibrary.org/obo/MONDO_0008258	https://omim.org/entry/173590|UMLS:C1868199|http://identifiers.org/mesh/C566796	
MONDO:0008255	biolink:Disease	platelet factor 3 deficiency		OMIM:173450|MESH:C566798|UMLS:C1868256	mondo.json	platelet factor 3 deficiency	http://purl.obolibrary.org/obo/MONDO_0008255	UMLS:C1868256|http://identifiers.org/mesh/C566798|https://omim.org/entry/173450	
MONDO:0021233	biolink:Disease	ear neoplasm	A neoplasm (disease) that involves the ear.	NCIT:C3000	mondo.json	neoplasm of the Ear|neoplasm of Ear|Ear tumor|tumor of ear|Ear neoplasms|tumor of the Ear|tumor of Ear|ear neoplasm (disease)|neoplasm of ear|ear tumor	http://purl.obolibrary.org/obo/MONDO_0021233	NCIT:C3000	
GO:0003094	biolink:NamedThing	glomerular filtration	The process in which plasma is filtered through the glomerular membrane which consists of capillary endothelial cells, the basement membrane, and epithelial cells. The glomerular filtrate is the same as plasma except it has no significant amount of protein.		mondo.json		http://purl.obolibrary.org/obo/GO_0003094		
MONDO:0008256	biolink:Disease	platelet membrane fluidity		OMIM:173560	mondo.json	platelet membrane fluidity|PMF	http://purl.obolibrary.org/obo/MONDO_0008256	https://omim.org/entry/173560	
MONDO:0021232	biolink:Disease	pineal body neoplasm	A neoplasm (disease) that involves the pineal body.	ONCOTREE:PINT|NCIT:C3328	mondo.json	pineal body tumor|tumor of pineal body|pineal region neoplasm|pineal neoplasm|tumor of the pineal area|tumor of pineal area|neoplasm of the pineal region|pineal tumor|neoplasm of pineal region|pineal region tumor|pinealoma|pineal body neoplasm (disease)|neoplasm of pineal body|pineal area neoplasm|neoplasm of the pineal area|tumor of the pineal region|neoplasm of pineal area|pineal area tumor|tumor of pineal region	http://purl.obolibrary.org/obo/MONDO_0021232	NCIT:C3328	
GO:0003093	biolink:NamedThing	regulation of glomerular filtration	Any process that modulates the frequency, rate or extent of glomerular filtration. Glomerular filtration is the process in which blood is filtered by the glomerulus into the renal tubule.		mondo.json		http://purl.obolibrary.org/obo/GO_0003093		
MONDO:0008253	biolink:Disease	platelet aggregation, spontaneous		OMIM:173400|UMLS:C1868263|MESH:C566800	mondo.json	platelet aggregation, spontaneous	http://purl.obolibrary.org/obo/MONDO_0008253	UMLS:C1868263|http://identifiers.org/mesh/C566800|https://omim.org/entry/173400	
MONDO:0021231	biolink:Disease	retina neoplasm	A neoplasm (disease) that involves the retina.	EFO:1000509|NCIT:C4800	mondo.json	tumor of retina|neoplasm of the retina|neoplasm of retina|retinal neoplasm|retina tumor|tumor of the retina|retina neoplasm (disease)|retinal tumor	http://purl.obolibrary.org/obo/MONDO_0021231	NCIT:C4800	
MONDO:0021230	biolink:Disease	uterine cervix neoplasm	A neoplasm (disease) that involves the uterine cervix.	ONCOTREE:CERVIX|NCIT:C2940	mondo.json	Cervical neoplasm|tumor of the cervix|neoplasm of uterine cervix|cervical tumor|tumor of cervix uteri|uterine cervix tumor|uterine cervix neoplasm (disease)|tumor of the cervix uteri|tumor of the uterine cervix|cervix|cervix uteri neoplasm|neoplasm of cervix|cervix tumor|neoplasm of the cervix|tumor of uterine cervix|neoplasm of cervix uteri|cervix neoplasm|cervix uteri tumor|neoplasm of the cervix uteri|neoplasm of the uterine cervix|tumor of cervix	http://purl.obolibrary.org/obo/MONDO_0021230	NCIT:C2940	
MONDO:0008254	biolink:Disease	platelet disorder, undefined		OMIM:173420|MESH:C566799|UMLS:C1868258	mondo.json	platelet disorder, undefined	http://purl.obolibrary.org/obo/MONDO_0008254	UMLS:C1868258|http://identifiers.org/mesh/C566799|https://omim.org/entry/173420	
MONDO:0008251	biolink:Disease	familial pityriasis rubra pilaris	A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.	ICD9:696.4|Orphanet:2897|UMLS:C2930842|OMIM:173200|MedDRA:10035116|GARD:0007401|MESH:C531784	mondo.json	hereditary pityriasis rubra pilaris|PRP|pityriasis rubra pilaris|Devergie's disease|pityriasis rubra pilaris--familial type	http://purl.obolibrary.org/obo/MONDO_0008251	UMLS:C2930842|http://identifiers.org/mesh/C531784|Orphanet:2897|https://omim.org/entry/173200	ordo_disease
MONDO:0033262	biolink:Disease	nephrotic syndrome 15		DOID:0080271|OMIM:617609|UMLS:CN388854	mondo.json	NPHS15|nephrotic syndrome, type 15|nephrotic syndrome 15	http://purl.obolibrary.org/obo/MONDO_0033262	DOID:0080271|UMLS:CN388854|https://omim.org/entry/617609	
HGNC:12633	biolink:NamedThing	USP9Y			mondo.json		http://identifiers.org/hgnc/12633		
MONDO:0008252	biolink:Disease	platelet adenylate cyclase activity		OMIM:173395	mondo.json	platelet adenylate cyclase activity	http://purl.obolibrary.org/obo/MONDO_0008252	https://omim.org/entry/173395	
HGNC:12632	biolink:NamedThing	USP9X			mondo.json		http://identifiers.org/hgnc/12632		
MONDO:0033260	biolink:Disease	hearing loss, autosomal dominant 73		DOID:0080269|OMIM:617663|UMLS:CN461628	mondo.json	deafness, autosomal dominant 73|DFNA73|autosomal dominant nonsyndromic deafness 73	http://purl.obolibrary.org/obo/MONDO_0033260	UMLS:CN461628|DOID:0080269|https://omim.org/entry/617663	
HGNC:12631	biolink:NamedThing	USP8			mondo.json		http://identifiers.org/hgnc/12631		
MONDO:0008250	biolink:Disease	isolated growth hormone deficiency type II		SCTID:237687003|DOID:0060872|GARD:0001696|Orphanet:231679|UMLS:C0271567|MESH:C562704|OMIM:173100	mondo.json	isolated Growth hormone deficiency, type 2|autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency|congenital isolated GH deficiency type II|isolated growth hormone deficiency, type II|pituitary dwarfism due to isolated Growth hormone deficiency, autosomal dominant|IGHD2|Growth hormone deficiency, isolated, autosomal dominant|IGHD II|Growth hormone deficiency, isolated autosomal dominant|autosomal dominant isolated growth hormone deficiency|congenital IGHD type II|pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant|isolated growth hormone deficiency type 2|congenital isolated growth hormone deficiency type II|IGHD 2|growth hormone deficiency, isolated, type II	http://purl.obolibrary.org/obo/MONDO_0008250	http://identifiers.org/mesh/C562704|UMLS:C0271567|Orphanet:231679|http://identifiers.org/snomedct/237687003|https://omim.org/entry/173100|DOID:0060872	gard_rare|ordo_clinical_subtype
MONDO:0033261	biolink:Disease	hearing loss, autosomal dominant 34, with or without inflammation		UMLS:CN653906|DOID:0080270|OMIM:617772	mondo.json	autosomal dominant nonsyndromic deafness 34|deafness, autosomal dominant 34, with or without inflammation|DFNA34	http://purl.obolibrary.org/obo/MONDO_0033261	UMLS:CN653906|DOID:0080270|https://omim.org/entry/617772	
HGNC:12630	biolink:NamedThing	USP7			mondo.json		http://identifiers.org/hgnc/12630		
CHEBI:17602	biolink:ChemicalSubstance	4-aminophenol	An amino phenol (one of the three possible isomers) which has the single amino substituent located para to the phenolic -OH group.		mondo.json	4-AMINOPHENOL|4-Hydroxyaniline|4-aminophenol|4-Aminophenol|p-Aminophenol|p-hydroxyaniline|4-Aminobenzenol	http://purl.obolibrary.org/obo/CHEBI_17602		
HGNC:12637	biolink:NamedThing	KDM6A			mondo.json		http://identifiers.org/hgnc/12637		
MONDO:0021229	biolink:Disease	ciliary body neoplasm	A neoplasm (disease) that involves the ciliary body.	NCIT:C4364|UMLS:C0339349	mondo.json	neoplasm of the ciliary body|ciliary body neoplasm (disease)|neoplasm of ciliary body|ciliary body tumor|tumor of the ciliary body|tumor of ciliary body	http://purl.obolibrary.org/obo/MONDO_0021229	NCIT:C4364|UMLS:C0339349	
MONDO:0021228	biolink:Disease	brainstem neoplasm	A neoplasm (disease) that involves the brainstem.	Orphanet:36414|NCIT:C4869	mondo.json	Brain stem neoplasm|neoplasm of brain stem|brain stem tumor|neoplasm of the brain stem|tumor of brainstem|neoplasm of the brainstem|brainstem neoplasm (disease)|tumor of brain stem|tumor of the brain stem|neoplasm of brainstem|tumor of the brainstem|brainstem tumor	http://purl.obolibrary.org/obo/MONDO_0021228	NCIT:C4869|Orphanet:36414	
MONDO:0021227	biolink:Disease	adrenal gland neoplasm	A neoplasm (disease) that involves the adrenal gland.	EFO:0003850|NCIT:C2859|ONCOTREE:ADRENALGLAND	mondo.json	tumor of adrenal gland|neoplasm of the adrenal gland|ADRENALGLAND|adrenal neoplasm|adrenal tumor|adrenal neoplasms|neoplasm of adrenal gland|tumor of the adrenal gland|adrenal gland tumor|adrenal gland neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0021227	NCIT:C2859	
GO:0015075	biolink:NamedThing	ion transmembrane transporter activity	Enables the transfer of an ion from one side of a membrane to the other.		mondo.json	ion transporter activity	http://purl.obolibrary.org/obo/GO_0015075		
RO:0000081	biolink:NamedThing	role of	a relation between a role and an independent continuant (the bearer), in which the role specifically depends on the bearer for its existence		mondo.json		http://purl.obolibrary.org/obo/RO_0000081		
RO:0000080	biolink:NamedThing	quality of	a relation between a quality and an independent continuant (the bearer), in which the quality specifically depends on the bearer for its existence		mondo.json		http://purl.obolibrary.org/obo/RO_0000080		
HGNC:24624	biolink:NamedThing	SIL1			mondo.json		http://identifiers.org/hgnc/24624		
RO:0000085	biolink:NamedThing	has function	a relation between an independent continuant (the bearer) and a function, in which the function specifically depends on the bearer for its existence		mondo.json		http://purl.obolibrary.org/obo/RO_0000085		
MONDO:0021226	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0021226		
MONDO:0011899	biolink:Disease	Noonan syndrome-like disorder with loose anagen hair	Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays.	UMLS:C1843181|Orphanet:2701|UMLS:C3501846|MESH:C564342|GARD:0010719|SCTID:723444009|OMIMPS:607721	mondo.json	Tosti syndrome|Noonan syndrome-like disorder with loose anagen hair 1|NSLH1|Noonan syndrome-like disorder with loose anagen hair|NSLH|NS/LAH|Noonan-like syndrome with loose anagen hair	http://purl.obolibrary.org/obo/MONDO_0011899	https://omim.org/phenotypicSeries/PS607721|http://identifiers.org/snomedct/723444009|Orphanet:2701|UMLS:C1843181|UMLS:C3501846|http://identifiers.org/mesh/C564342	ordo_malformation_syndrome|clingen|prototype_pattern
MONDO:0021225	biolink:Disease	uvea neoplasm	A neoplasm (disease) that involves the uvea.	UMLS:C0042162|NCIT:C3436	mondo.json	uveal tumor|tumor of uvea|uvea neoplasm (disease)|neoplasm of the uvea|uveal neoplasm|neoplasm of uvea|uvea tumor|tumor of the uvea	http://purl.obolibrary.org/obo/MONDO_0021225	NCIT:C3436|UMLS:C0042162	
MONDO:0008268	biolink:Disease	polydactyly-myopia syndrome	Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.	MESH:C536331|OMIM:174310|ICD9:625.4|SCTID:82639001|GARD:0004413|Orphanet:2917	mondo.json	postaxial polydactyly with progressive myopia|polydactyly, postaxial, with progressive myopia|Czeizel Brooser syndrome|polydactyly myopia syndrome|polydactyly-myopia syndrome|PMS|postaxial polydactyly-progressive myopia syndrome|Czeizel-Brooser syndrome	http://purl.obolibrary.org/obo/MONDO_0008268	http://identifiers.org/snomedct/82639001|Orphanet:2917|http://identifiers.org/mesh/C536331|https://omim.org/entry/174310	gard_rare|ordo_malformation_syndrome
MONDO:0021224	biolink:Disease	iris neoplasm	A neoplasm (disease) that involves the iris.	MESH:D015811|UMLS:C0022079|NCIT:C3142	mondo.json	tumor of iris|neoplasm of the iris|iris neoplasm (disease)|neoplasm of iris|iris tumor|tumor of the iris	http://purl.obolibrary.org/obo/MONDO_0021224	http://identifiers.org/mesh/D015811|UMLS:C0022079|NCIT:C3142	
MONDO:0008269	biolink:Disease	polydactyly of a biphalangeal thumb	Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left.	MESH:C536332|OMIM:174400|Orphanet:93339|SCTID:445216006|GARD:0004417	mondo.json	polydactyly, preaxial 1|polydactyly, preaxial type 1|thenar hypoplasia|polydactyly preaxial 1|PPD1|polydactyly, preaxial I|thumb polydactyly|Fromont anomaly|preaxial polydactyly 1|preaxial polydactyly type 1	http://purl.obolibrary.org/obo/MONDO_0008269	Orphanet:93339|http://identifiers.org/snomedct/445216006|http://identifiers.org/mesh/C536332|https://omim.org/entry/174400	ordo_morphological_anomaly
MONDO:0021223	biolink:Disease	digestive system neoplasm	A neoplasm (disease) that involves the digestive system.	EFO:0008549|NCIT:C3052|MESH:D005770	mondo.json	gastrointestinal system neoplasm|tumor of the GI system|digestive system neoplasm (disease)|tumor of GI system|GI neoplasm|neoplasm of digestive system|digestive system tumor|digestive neoplasm|digestive tumor|tumor of the digestive system|neoplasm of the gastrointestinal system|GI tumor|neoplasm of gastrointestinal system|gastrointestinal system tumor|gastrointestinal tumor|neoplasm of the GI system|tumor of digestive system|neoplasm of GI system|GI system tumor|neoplasm of the digestive system|GI system neoplasm|tumor of the gastrointestinal system|gastrointestinal neoplasm|tumor of gastrointestinal system	http://purl.obolibrary.org/obo/MONDO_0021223	http://identifiers.org/mesh/D005770|NCIT:C3052	
MONDO:0021222	biolink:Disease	lacrimal gland neoplasm	A neoplasm (disease) that involves the lacrimal gland.	NCIT:C4360	mondo.json	neoplasm of the lacrimal gland|neoplasm of lacrimal gland|lacrimal gland tumor|tumor of the lacrimal gland|lacrimal gland neoplasm (disease)|tumor of lacrimal gland	http://purl.obolibrary.org/obo/MONDO_0021222	NCIT:C4360	
MONDO:0008266	biolink:Disease	polydactyly, postaxial, type A1		OMIM:174200|UMLS:C1868120|Orphanet:93335	mondo.json	polydactyly, postaxial, type A1|polydactyly, postaxial, types A1 and B|polydactyly, postaxial|PAPA1|postaxial polydactyly, type B|postaxial polydactyly, type A	http://purl.obolibrary.org/obo/MONDO_0008266	https://omim.org/entry/174200	
MONDO:0008267	biolink:Disease	orofaciodigital syndrome V	Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).	GARD:0004120|OMIM:174300|UMLS:C1868118|Orphanet:2919|SCTID:722105002|DOID:0060375|MESH:C557819	mondo.json	OFD syndrome 5|orofaciodigital syndrome type V|OFD5|Thurston syndrome|polydactyly postaxial with median cleft of upper lip|oral facial digital syndrome type 5|oral-facial-digital syndrome type 5|orofaciodigital syndrome Thurston type|orofaciodigital syndrome V|orofaciodigital syndrome 5|oral facial digital syndrome 5|oral-facial-digital syndrome 5|orofaciodigital syndrome, Thurston type|polydactyly, postaxial, with Median cleft of upper lip|polydactyly, postaxial, with median cleft of upper lip|oral-Facial-digital syndrome, type 5|orofaciodigital syndrome type 5|Ofds 5	http://purl.obolibrary.org/obo/MONDO_0008267	http://identifiers.org/mesh/C557819|UMLS:C1868118|Orphanet:2919|https://omim.org/entry/174300|http://identifiers.org/snomedct/722105002|DOID:0060375	gard_rare|ordo_malformation_syndrome
MONDO:0021221	biolink:Disease	vestibulocochlear nerve neoplasm	A neoplasm (disease) that involves the vestibulocochlear nerve.	NCIT:C5120|UMLS:C0346330|SCTID:387891008	mondo.json	tumor of vestibulocochlear nerve|tumor of acoustic nerve|neoplasm of the vestibulocochlear nerve|tumor of the acoustic nerve|tumor of eighth cranial nerve|tumor of the eighth cranial nerve|vestibulocochlear nerve neoplasms|neoplasm of vestibulocochlear nerve|vestibulocochlear nerve neoplasm (disease)|cranial nerve eight neoplasms|vestibulocochlear nerve tumor|tumor of the vestibulocochlear nerve|neoplasm of acoustic nerve|acoustic nerve tumor|neoplasm of the acoustic nerve|eighth cranial nerve neoplasm|neoplasm of eighth cranial nerve|eighth cranial nerve tumor|acoustic nerve neoplasm|neoplasm of the eighth cranial nerve|Vestibuloacoustic nerve neoplasms|eighth cranial nerve neoplasms	http://purl.obolibrary.org/obo/MONDO_0021221	http://identifiers.org/snomedct/387891008|NCIT:C5120|UMLS:C0346330	
MONDO:0021220	biolink:Disease	eye neoplasm	A neoplasm (disease) that involves the eye.	ICD10CM:C69-C72|NCIT:C3030|ONCOTREE:EYE	mondo.json	tumor of eyeball of camera-type eye|neoplasm of eye|tumor of eye|neoplasm of the eye|eye neoplasm (disease)|eyeball of camera-type eye neoplasm|neoplasm of eyeball of camera-type eye|eyeball of camera-type eye tumor|ocular neoplasm|ocular tumor|tumor of the eye|eye tumor	http://purl.obolibrary.org/obo/MONDO_0021220	NCIT:C3030	
MONDO:0008264	biolink:Disease	autosomal dominant medullary cystic kidney disease with or without hyperuricemia	A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1).	UMLS:CN536252|GARD:0010801|UMLS:C4511620|EFO:0008617|UMLS:C4054549|UMLS:CN204412|SCTID:444699000|MESH:C536137|Orphanet:34149|MEDGEN:881357|MEDGEN:358137	mondo.json	autosomal dominant medullary cystic kidney disease with or without hyperuricemia|medullary cystic kidney disease|polycystic kidneys, medullary type|ADTKD|autosomal dominant tubulointerstitial kidney disease|MCKD|medullary cystic disease|autosomal dominant interstitial kidney disease|autosomal dominant medullary cystic kidney disease	http://purl.obolibrary.org/obo/MONDO_0008264	Orphanet:34149|http://identifiers.org/mesh/C536137|http://identifiers.org/medgen/881357|http://identifiers.org/snomedct/444699000|UMLS:CN536252|UMLS:C4054549|http://identifiers.org/medgen/358137|UMLS:C4511620|UMLS:CN204412	ordo_disease|gard_rare
RO:0000087	biolink:NamedThing	has role	a relation between an independent continuant (the bearer) and a role, in which the role specifically depends on the bearer for its existence		mondo.json		http://purl.obolibrary.org/obo/RO_0000087		
MONDO:0008265	biolink:Disease	polycystic liver disease 1	A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver.	MedDRA:10010427|UMLS:C4255088|SCTID:716196007|MedDRA:10048834|OMIM:174050|OMIM:617004	mondo.json	PCLD1|nonsyndromic polycystic liver disease (disease)|isolated autosomal dominant polycystic liver disease|polycystic liver disease|isolated polycystic liver disease|polycystic liver disease 1|polycystic liver disease 1 with or without kidney cysts|ADPCLD|isolated congenital polycystic liver disease|autosomal dominant polycystic liver disease|nonsyndromic congenital polycystic liver disease|PCLD	http://purl.obolibrary.org/obo/MONDO_0008265	http://identifiers.org/snomedct/716196007|https://omim.org/entry/174050	ordo_malformation_syndrome
MONDO:0023880	biolink:Disease	WHIM syndrome		OMIMPS:193670	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023880	https://omim.org/phenotypicSeries/PS193670	
RO:0000086	biolink:NamedThing	has quality	a relation between an independent continuant (the bearer) and a quality, in which the quality specifically depends on the bearer for its existence		mondo.json		http://purl.obolibrary.org/obo/RO_0000086		
MONDO:0008262	biolink:Disease	Poland syndrome	Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly.	MedDRA:10036007|SCTID:38371006|Orphanet:2911|MESH:D011045|UMLS:C0032357|OMIM:173800|GARD:0007412|DOID:12961|NCIT:C85017|ICD9:756.89	mondo.json	Poland syndrome|Poland anomaly|Poland syndactyly|Poland's syndactyly|unilateral defect of pectoralis muscle and syndactyly of the hand|Poland sequence|pectoralis muscle, absence of|Poland's syndrome	http://purl.obolibrary.org/obo/MONDO_0008262	http://identifiers.org/snomedct/38371006|UMLS:C0032357|Orphanet:2911|http://identifiers.org/mesh/D011045|NCIT:C85017|DOID:12961|https://omim.org/entry/173800	gard_rare|ordo_malformation_syndrome
MONDO:0008263	biolink:Disease	polycystic kidney disease 1	Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene.	OMIM:173900|DOID:0110858|MESH:C536326|UMLS:C3149841|SCTID:253878003	mondo.json	polycystic kidney disease 1 with or without polycystic liver disease|Potter type 3 polycystic kidney disease, formerly|Potter type 3 polycystic kidney disease|polycystic kidney disease 1|polycystic kidney disease, adult|polycystic kidney disease, adult, type 1|PKD1 autosomal dominant polycystic kidney disease|autosomal dominant polycystic kidney disease caused by mutation in PKD1|PKD1|polycystic kidney disease, adult, type I|APKD1|polycystic kidney disease type 1	http://purl.obolibrary.org/obo/MONDO_0008263	http://identifiers.org/snomedct/253878003|UMLS:C3149841|http://identifiers.org/mesh/C536326|DOID:0110858|https://omim.org/entry/173900	
MONDO:0008260	biolink:Disease	Kindler syndrome	Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.	OMIM:173650|GARD:0004391|Orphanet:2908|DOID:0060472|SCTID:238836000|MESH:C536321	mondo.json	KS|poikiloderma, hereditary acrokeratotic|Kindler syndrome|congenital bullous poikiloderma|poikiloderma, congenital, with bullae, Weary type|KINDLER syndrome|KNDLRS|poikiloderma of Kindler|bullous acrokeratotic poikiloderma of Kindler and Weary	http://purl.obolibrary.org/obo/MONDO_0008260	Orphanet:2908|http://identifiers.org/mesh/C536321|DOID:0060472|https://omim.org/entry/173650|http://identifiers.org/snomedct/238836000	ordo_clinical_subtype
HGNC:12642	biolink:NamedThing	VAMP1			mondo.json		http://identifiers.org/hgnc/12642		
RO:0000079	biolink:NamedThing	function of	a relation between a function and an independent continuant (the bearer), in which the function specifically depends on the bearer for its existence		mondo.json		http://purl.obolibrary.org/obo/RO_0000079		
MONDO:0008261	biolink:Disease	hereditary sclerosing poikiloderma, Weary type		Orphanet:221039|OMIM:173700|MESH:C562824	mondo.json	poikiloderma, hereditary sclerosing	http://purl.obolibrary.org/obo/MONDO_0008261	Orphanet:221039|https://omim.org/entry/173700|http://identifiers.org/mesh/C562824	ordo_disease
MONDO:0021219	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0021219		
MONDO:0021218	biolink:Disease	placenta neoplasm	A neoplasm (disease) that involves the placenta.	NCIT:C4858|GARD:0007403	mondo.json	placental tumor|tumor of placenta|neoplasm of the placenta|placenta tumors|placenta neoplasms|placental neoplasm|neoplasm of placenta|trophoblastic tumor placental site|placental tumors|placenta tumor|tumor of the placenta|placenta neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0021218	NCIT:C4858	
MONDO:0021217	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0021217		
MONDO:0021216	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0021216		
FOODON:03307455	biolink:NamedThing	cow milk (raw)		SUBSET_SIREN:F7455	mondo.json	milk|raw milk	http://purl.obolibrary.org/obo/FOODON_03307455		"subset_siren"
GO:0015085	biolink:NamedThing	calcium ion transmembrane transporter activity	Enables the transfer of calcium (Ca) ions from one side of a membrane to the other.		mondo.json		http://purl.obolibrary.org/obo/GO_0015085		
MONDO:0021294	biolink:Disease	carcinoma in situ of gastric cardia	A in situ carcinoma that involves the cardia of stomach.	NCIT:C4428|UMLS:C0345795|SCTID:92560002	mondo.json	cardia of stomach carcinoma in situ|carcinoma in situ of the gastric cardia|carcinoma in situ of cardia of stomach|carcinoma in situ of the cardia of the stomach|gastric cardia carcinoma in situ aJCC v6 and v7|stage 0 cardia of stomach carcinoma|gastric cardia carcinoma in situ|cardia of stomach in situ carcinoma|stage 0 gastric cardia carcinoma	http://purl.obolibrary.org/obo/MONDO_0021294	NCIT:C4428|UMLS:C0345795|http://identifiers.org/snomedct/92560002	
MONDO:0021292	biolink:Disease	carcinoma in situ of gastric body	A in situ carcinoma that involves the body of stomach.	UMLS:C0345805|NCIT:C4430|SCTID:92549006	mondo.json	carcinoma in situ of the gastric body|stage 0 body of stomach carcinoma|body of stomach in situ carcinoma|carcinoma in situ of the body of the stomach|carcinoma in situ of body of stomach|stage 0 gastric body carcinoma|gastric body carcinoma in situ|gastric body carcinoma in situ aJCC v6 and v7|body of stomach carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0021292	NCIT:C4430|http://identifiers.org/snomedct/92549006|UMLS:C0345805	
MONDO:0021291	biolink:Disease	carcinoma in situ of fundus of stomach	A in situ carcinoma that involves the fundus of stomach.	UMLS:C0345800|SCTID:92598002|NCIT:C4429	mondo.json	carcinoma in situ of the fundus of the stomach|stage 0 gastric fundus carcinoma|gastric fundus carcinoma in situ|gastric fundus carcinoma in situ aJCC v6 and v7|stage 0 fundus of stomach carcinoma|fundus of stomach in situ carcinoma|carcinoma in situ of gastric fundus|carcinoma in situ of the gastric fundus|fundus of stomach carcinoma in situ|carcinoma in situ of fundus of stomach	http://purl.obolibrary.org/obo/MONDO_0021291	NCIT:C4429|UMLS:C0345800|http://identifiers.org/snomedct/92598002	
MONDO:0021290	biolink:Disease	carcinoma in situ of appendix	A in situ carcinoma that involves the vermiform appendix.	NCIT:C4593|UMLS:C0347125|SCTID:92539008	mondo.json	vermiform appendix carcinoma in situ|stage 0 appendix cancer|stage 0 vermiform appendix carcinoma|carcinoma in situ of the appendix|stage 0 appendix carcinoma aJCC v7|vermiform appendix in situ carcinoma|carcinoma in situ of vermiform appendix|stage 0 appendix carcinoma	http://purl.obolibrary.org/obo/MONDO_0021290	NCIT:C4593|http://identifiers.org/snomedct/92539008|UMLS:C0347125	
HGNC:12605	biolink:NamedThing	CLRN1			mondo.json		http://identifiers.org/hgnc/12605		
MONDO:0021299	biolink:Disease	carcinoma in situ of extrahepatic bile duct	A in situ carcinoma that involves the extrahepatic bile duct.	SCTID:92589000|UMLS:C0345914|NCIT:C4442	mondo.json	extrahepatic biliary duct carcinoma in situ|carcinoma in situ of extrahepatic biliary ducts|stage 0 extrahepatic bile duct cancer|extrahepatic bile duct cancer stage 0|extrahepatic bile duct in situ carcinoma|carcinoma in situ of the extrahepatic bile duct|carcinoma in situ of extrahepatic bile duct|stage 0 carcinoma of extrahepatic bile duct|carcinoma in situ of extrahepatic bile ducts|stage 0 carcinoma of the extrahepatic bile duct|stage 0 extrahepatic bile duct carcinoma in situ|stage 0 extrahepatic bile duct carcinoma|extrahepatic bile duct carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0021299	NCIT:C4442|http://identifiers.org/snomedct/92589000|UMLS:C0345914	
MONDO:0021298	biolink:Disease	carcinoma in situ of oropharynx	A in situ carcinoma that involves the oropharynx.	UMLS:C0347099|SCTID:92668003|NCIT:C4590	mondo.json	stage 0 oropharyngeal carcinoma aJCC v7|carcinoma in situ of the oropharynx|stage 0 oropharyngeal carcinoma aJCC v6|stage 0 carcinoma of oropharynx|oropharyngeal carcinoma in situ|stage 0 oropharyngeal carcinoma aJCC v6 and v7|stage 0 carcinoma of the oropharynx|stage 0 oropharyngeal carcinoma in situ|oropharynx in situ carcinoma|carcinoma in situ of oropharynx|stage 0 oropharynx carcinoma|stage 0 oropharyngeal carcinoma|oropharynx carcinoma in situ|stage 0 oropharyngeal cancer|stage 0 oropharyngeal throat cancer|oropharyngeal cancer stage 0	http://purl.obolibrary.org/obo/MONDO_0021298	UMLS:C0347099|NCIT:C4590|http://identifiers.org/snomedct/92668003	
GO:0003071	biolink:NamedThing	renal system process involved in regulation of systemic arterial blood pressure	Renal process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure.		mondo.json	renal control of blood pressure|renal regulation of systemic arterial blood pressure	http://purl.obolibrary.org/obo/GO_0003071		
MONDO:0021297	biolink:Disease	carcinoma in situ of nasopharynx	A in situ carcinoma that involves the nasopharynx.	NCIT:C9099|UMLS:C0347096|SCTID:92664001|UMLS:C4331312	mondo.json	stage 0 nasopharyngeal cancer|nasopharyngeal carcinoma in situ|stage 0 nasopharyngeal carcinoma|stage 0 carcinoma of the nasopharynx|stage 0 carcinoma of nasopharynx|stage 0 nasopharyngeal throat cancer|stage 0 nasopharyngeal carcinoma aJCC v6, v7, and v8|carcinoma in situ of the nasopharynx|stage 0 nasopharyngeal carcinoma aJCC v8|stage 0 nasopharyngeal carcinoma aJCC v7|stage 0 nasopharyngeal carcinoma aJCC v6|nasopharynx in situ carcinoma|nasopharynx carcinoma in situ|carcinoma in situ of nasopharynx|stage 0 nasopharynx carcinoma|stage 0 nasopharyngeal carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0021297	UMLS:C0347096|NCIT:C9099|http://identifiers.org/snomedct/92664001	
MONDO:0021296	biolink:Disease	carcinoma in situ of renal pelvis	A in situ carcinoma that involves the renal pelvis.	ICD9:233.9|NCIT:C4597|UMLS:C0347184|SCTID:92697000	mondo.json	stage 0is carcinoma of the kidney pelvis|renal pelvis in situ carcinoma|kidney pelvis carcinoma in situ|stage 0is carcinoma of kidney pelvis|stage 0is renal pelvis cancer aJCC v7|carcinoma in situ of renal pelvis|carcinoma in situ of the renal pelvis|stage 0is renal pelvis urothelial carcinoma|stage 0is kidney renal pelvis urothelial cancer|stage 0is renal pelvis cancer|stage 0is kidney pelvis carcinoma|carcinoma in situ of the kidney pelvis|stage 0 renal pelvis carcinoma|renal pelvis carcinoma in situ|carcinoma in situ of kidney pelvis|stage 0is carcinoma of renal pelvis|stage 0is renal pelvis urothelial carcinoma aJCC v7|stage 0is carcinoma of the renal pelvis	http://purl.obolibrary.org/obo/MONDO_0021296	UMLS:C0347184|NCIT:C4597|http://identifiers.org/snomedct/92697000	
GO:0003073	biolink:NamedThing	regulation of systemic arterial blood pressure	The process that modulates the force with which blood travels through the systemic arterial circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure.		mondo.json		http://purl.obolibrary.org/obo/GO_0003073		
MONDO:0033204	biolink:Disease	ciliary dyskinesia, primary, 37		DOID:0080266|OMIM:617577	mondo.json	CILD37|ciliary dyskinesia, primary, 37, with or without situs inversus|ciliary dyskinesia, primary, 37|primary ciliary dyskinesia 37	http://purl.obolibrary.org/obo/MONDO_0033204	DOID:0080266|https://omim.org/entry/617577	
MONDO:0033202	biolink:Disease	hearing loss, autosomal recessive 109		DOID:0111639|OMIM:618013|UMLS:CN248519	mondo.json	deafness, autosomal recessive 109|DFNB109	http://purl.obolibrary.org/obo/MONDO_0033202	https://omim.org/entry/618013|DOID:0111639|UMLS:CN248519	
MONDO:0033203	biolink:Disease	nephrotic syndrome 14		Orphanet:506334|UMLS:CN339707|DOID:0080265|OMIM:617575	mondo.json	nephrotic syndrome 14|NPHS14|nephrotic syndrome, type 14|familial steroid-resistant nephrotic syndrome with adrenal insufficiency|primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency	http://purl.obolibrary.org/obo/MONDO_0033203	DOID:0080265|https://omim.org/entry/617575|UMLS:CN339707|Orphanet:506334	ordo_disease
MONDO:0035863	biolink:Disease	obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Orphanet:611327	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035863	Orphanet:611327	
MONDO:0033200	biolink:Disease	hearing loss, autosomal recessive 108		OMIM:617654|DOID:0080263	mondo.json	DFNB108|autosomal recessive nonsyndromic deafness 108|deafness, autosomal recessive 108	http://purl.obolibrary.org/obo/MONDO_0033200	DOID:0080263|https://omim.org/entry/617654	
MONDO:0035862	biolink:Disease	obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome		Orphanet:611314	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035862	Orphanet:611314	
MONDO:0033201	biolink:Disease	hearing loss, autosomal recessive 57		UMLS:CN248511|DOID:0111635|OMIM:618003	mondo.json	DFNB57|deafness, autosomal recessive 57	http://purl.obolibrary.org/obo/MONDO_0033201	https://omim.org/entry/618003|DOID:0111635|UMLS:CN248511	
FOODON:00001958	biolink:NamedThing	human milk based food product			mondo.json		http://purl.obolibrary.org/obo/FOODON_00001958		
MONDO:0021284	biolink:Disease	carcinoma in situ of ureter	A in situ carcinoma that involves the ureter.	ICD9:233.9|SCTID:92782006|UMLS:C0346267|NCIT:C4529	mondo.json	ureter carcinoma in situ|stage 0is ureter urothelial cancer|stage 0is carcinoma of ureter|stage 0is carcinoma of the ureter|stage 0is ureter cancer aJCC v7|stage 0is ureter urothelial carcinoma|ureteral carcinoma in situ|stage 0 ureter carcinoma|carcinoma in situ of the ureter|stage 0is ureter carcinoma|stage 0is ureter cancer|ureter cancer stage 0is|ureter in situ carcinoma|stage 0is ureter urothelial carcinoma aJCC v7|carcinoma in situ of ureter|stage 0is ureteral carcinoma	http://purl.obolibrary.org/obo/MONDO_0021284	NCIT:C4529|http://identifiers.org/snomedct/92782006|UMLS:C0346267	
MONDO:0021283	biolink:Disease	malignant teratoma of mediastinum	A malignant teratoma that involves the mediastinum.	SCTID:278042005|NCIT:C4668|UMLS:C0349663	mondo.json	immature malignant teratoma of mediastinum|mediastinum malignant teratoma|malignant mediastinal teratoma|malignant teratoma of the mediastinum|mediastinal immature malignant teratoma|immature malignant teratoma of the mediastinum	http://purl.obolibrary.org/obo/MONDO_0021283	UMLS:C0349663|NCIT:C4668|http://identifiers.org/snomedct/278042005	
MONDO:0021282	biolink:Disease	malignant teratoma of testis	A malignant teratoma that involves the testis.	SCTID:416769008|ICD9:186.9|NCIT:C6353|UMLS:C1334154	mondo.json	testicular malignant teratoma|testis malignant teratoma|malignant testicular teratoma|immature teratoma of testis|immature teratoma of the testis|immature testicular teratoma|testicular immature teratoma|malignant teratoma of the testis	http://purl.obolibrary.org/obo/MONDO_0021282	UMLS:C1334154|http://identifiers.org/snomedct/416769008|NCIT:C6353	
MONDO:0021281	biolink:Disease	cavernous hemangioma of retina	A cavernous hemangioma that involves the retina.	UMLS:C0730304|NCIT:C4921|SCTID:312937006	mondo.json	retina cavernous angioma|cavernous hemangioma of the retina|retinal cavernous hemangioma|retina cavernous hemangioma|cavernous angioma of retina|cavernous angioma of the retina|retinal cavernous angioma	http://purl.obolibrary.org/obo/MONDO_0021281	UMLS:C0730304|NCIT:C4921|http://identifiers.org/snomedct/312937006	
MONDO:0021280	biolink:Disease	mucoepidermoid carcinoma of parotid gland	A mucoepidermoid carcinoma that involves the parotid gland.	UMLS:C1335363|NCIT:C5938|SCTID:423793008	mondo.json	mucoepidermoid carcinoma of the parotid gland|parotid gland mucoepidermoid carcinoma|mucoepidermoid carcinoma of the parotid|mucoepidermoid carcinoma of parotid|parotid mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0021280	NCIT:C5938|UMLS:C1335363|http://identifiers.org/snomedct/423793008	
MONDO:0021289	biolink:Disease	carcinoma in situ of cecum	A in situ carcinoma that involves the caecum.	SCTID:92559007|UMLS:C0347126|NCIT:C4594	mondo.json	carcinoma in situ of the cecum|caecum in situ carcinoma|carcinoma in situ of caecum|cecum carcinoma in situ|caecum carcinoma in situ|stage 0 cecum carcinoma|stage 0 caecum carcinoma|cecum carcinoma in situ aJCC v7|cecum carcinoma in situ aJCC v6	http://purl.obolibrary.org/obo/MONDO_0021289	UMLS:C0347126|NCIT:C4594|http://identifiers.org/snomedct/92559007	
MONDO:0021288	biolink:Disease	carcinoma in situ of hypopharynx	A in situ carcinoma that involves the hypopharynx.	NCIT:C9101|UMLS:C0347100|UMLS:C4331310|SCTID:92612007	mondo.json	hypopharynx carcinoma in situ|stage 0 hypopharyngeal carcinoma in situ|carcinoma in situ of hypopharynx|hypopharyngeal carcinoma in situ|stage 0 hypopharynx carcinoma|stage 0 hypopharyngeal carcinoma|stage 0 hypopharyngeal cancer|stage 0 carcinoma of the hypopharynx|stage 0 hypopharyngeal throat cancer|stage 0 carcinoma of hypopharynx|stage 0 hypopharyngeal carcinoma aJCC v6, v7, and v8|stage 0 hypopharyngeal carcinoma aJCC v8|carcinoma in situ of the hypopharynx|stage 0 hypopharyngeal carcinoma aJCC v7|stage 0 hypopharyngeal carcinoma aJCC v6|hypopharynx in situ carcinoma	http://purl.obolibrary.org/obo/MONDO_0021288	UMLS:C0347100|NCIT:C9101|http://identifiers.org/snomedct/92612007	
MONDO:0021287	biolink:Disease	carcinoma in situ of epiglottis	A in situ carcinoma that involves the epiglottis.	SCTID:92584005|UMLS:C0347103|NCIT:C4592	mondo.json	epiglottis in situ carcinoma|carcinoma in situ of epiglottis|epiglottis carcinoma in situ|Epiglottis carcinoma in situ|stage 0 epiglottic carcinoma|epiglottic carcinoma in situ|stage 0 epiglottic throat cancer|stage 0 epiglottic carcinoma aJCC v6, v7, and v8|stage 0 epiglottis carcinoma|stage 0 epiglottic carcinoma aJCC v8|stage 0 epiglottic carcinoma aJCC v7|carcinoma in situ of the Epiglottis|stage 0 epiglottic carcinoma aJCC v6	http://purl.obolibrary.org/obo/MONDO_0021287	UMLS:C0347103|http://identifiers.org/snomedct/92584005|NCIT:C4592	
MONDO:0021286	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0021286		
MONDO:0021285	biolink:Disease	carcinoma in situ of urethra	A in situ carcinoma that involves the urethra.	ICD9:233.9|SCTID:92784007|NCIT:C4531|UMLS:C0346280	mondo.json	carcinoma in situ of urethra|stage 0is urethral cancer aJCC v7|stage 0is carcinoma of the urethra|urethra carcinoma in situ|stage 0is carcinoma of urethra|stage 0 urethra carcinoma|stage 0is urethral carcinoma|stage 0is urethral cancer|urethra in situ carcinoma|stage 0is urethra carcinoma|carcinoma in situ of the urethra|urethral carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0021285	UMLS:C0346280|NCIT:C4531|http://identifiers.org/snomedct/92784007	
RO:0000059	biolink:NamedThing	concretizes	A relationship between a specifically dependent continuant and a generically dependent continuant, in which the generically dependent continuant depends on some independent continuant in virtue of the fact that the specifically dependent continuant also depends on that same independent continuant. Multiple specifically dependent continuants can concretize the same generically dependent continuant.		mondo.json		http://purl.obolibrary.org/obo/RO_0000059		
RO:0000058	biolink:NamedThing	is concretized as	A relationship between a generically dependent continuant and a specifically dependent continuant, in which the generically dependent continuant depends on some independent continuant in virtue of the fact that the specifically dependent continuant also depends on that same independent continuant. A generically dependent continuant may be concretized as multiple specifically dependent continuants.		mondo.json		http://purl.obolibrary.org/obo/RO_0000058		
GO:0003091	biolink:NamedThing	renal water homeostasis	Renal process involved in the maintenance of an internal steady state of water in the body.		mondo.json	water homeostasis by the renal system	http://purl.obolibrary.org/obo/GO_0003091		
RO:0000057	biolink:NamedThing	has participant	a relation between a process and a continuant, in which the continuant is somehow involved in the process		mondo.json		http://purl.obolibrary.org/obo/RO_0000057		
HP:0000202	biolink:PhenotypicFeature	Oral cleft	The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.	UMLS:C0158646|SNOMEDCT_US:253983005|SNOMEDCT_US:66948001|UMLS:C4021813	mondo.json	Cleft lip/palate|Cleft lip, cleft palate|Cleft of the mouth|Oral clefting	http://purl.obolibrary.org/obo/HP_0000202		
HP:0000201	biolink:PhenotypicFeature	Pierre-Robin sequence	Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.	UMLS:C0031900|SNOMEDCT_US:4602007|MSH:D010855	mondo.json	Pierre-robin anomaly|Pierre Robin sequence|Pierre-robin malformation|Pierre-robin deformity|Robin sequence	http://purl.obolibrary.org/obo/HP_0000201		
GO:0015067	biolink:NamedThing	amidinotransferase activity	Catalysis of the reversible transfer of an amidino group to an acceptor.		mondo.json	transamidinase activity	http://purl.obolibrary.org/obo/GO_0015067		
MONDO:0035876	biolink:Disease	belinostat toxicity or dose selection		Orphanet:574671	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035876	Orphanet:574671	ordo_disorder
GO:0015068	biolink:NamedThing	glycine amidinotransferase activity	Catalysis of the reaction: L-arginine + glycine = L-ornithine + guanidinoacetate.		mondo.json	arginine-glycine amidinotransferase activity|glycine transamidinase activity|arginine-glycine transamidinase activity|L-arginine:glycine amidinotransferase activity	http://purl.obolibrary.org/obo/GO_0015068		
MONDO:0035875	biolink:Disease	ivermectin toxicity		Orphanet:574637	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035875	Orphanet:574637	ordo_disorder
MONDO:0033211	biolink:Disease	diencephalic-mesencephalic junction dysplasia syndrome		OMIMPS:251280	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033211	https://omim.org/phenotypicSeries/PS251280	
MONDO:0021273	biolink:Disease	leiomyoma of ciliary body	A leiomyoma that involves the ciliary body.	UMLS:C0346386|SCTID:255020006|ICD9:224.0|NCIT:C4560	mondo.json	leiomyoma of the ciliary body|ciliary body leiomyoma	http://purl.obolibrary.org/obo/MONDO_0021273	NCIT:C4560|UMLS:C0346386|http://identifiers.org/snomedct/255020006	
MONDO:0021272	biolink:Disease	inherited orthostatic hypotension		OMIMPS:223360	mondo.json		http://purl.obolibrary.org/obo/MONDO_0021272	https://omim.org/phenotypicSeries/PS223360	
MONDO:0021271	biolink:Disease	villous adenoma of colon	A villous adenoma that involves the colon.	UMLS:C0149862|SCTID:309084001|NCIT:C3495	mondo.json	colonic villous adenoma|colon villous adenoma|villous adenoma of the colon	http://purl.obolibrary.org/obo/MONDO_0021271	UMLS:C0149862|NCIT:C3495|http://identifiers.org/snomedct/309084001	
MONDO:0035879	biolink:Disease	granuloma faciale		ICD10CM:L92.2|Orphanet:615943	mondo.json	Facial granuloma of Lever|Granuloma of Lever	http://purl.obolibrary.org/obo/MONDO_0035879	http://purl.bioontology.org/ontology/ICD10CM/L92.2|Orphanet:615943	ordo_disorder
RO:0000052	biolink:NamedThing	characteristic of	a relation between a specifically dependent continuant (the characteristic) and any other entity (the bearer), in which the characteristic depends on the bearer for its existence.		mondo.json		http://purl.obolibrary.org/obo/RO_0000052		
MONDO:0021279	biolink:Disease	mucoepidermoid carcinoma of submandibular gland	A mucoepidermoid carcinoma that involves the submandibular gland.	NCIT:C5939|SCTID:423424005|UMLS:C1336524	mondo.json	submandibular gland mucoepidermoid carcinoma|mucoepidermoid carcinoma of the submandibular gland	http://purl.obolibrary.org/obo/MONDO_0021279	http://identifiers.org/snomedct/423424005|UMLS:C1336524|NCIT:C5939	
HP:0002835	biolink:PhenotypicFeature	Aspiration	Inspiration of a foreign object into the airway.	UMLS:C2712334|SNOMEDCT_US:413585005|UMLS:C0700198|SNOMEDCT_US:68052005	mondo.json	Pulmonary aspiration	http://purl.obolibrary.org/obo/HP_0002835		
MONDO:0021278	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0021278		
MONDO:0008299	biolink:Disease	posterior column ataxia		OMIM:176250|GARD:0010044|UMLS:C1867923|MESH:C536342	mondo.json	Biemond ataxia|posterior column ataxia	http://purl.obolibrary.org/obo/MONDO_0008299	https://omim.org/entry/176250|http://identifiers.org/mesh/C536342|UMLS:C1867923	gard_rare
RO:0000056	biolink:NamedThing	participates in	a relation between a continuant and a process, in which the continuant is somehow involved in the process		mondo.json		http://purl.obolibrary.org/obo/RO_0000056		
MONDO:0021276	biolink:Disease	papilloma of buccal mucosa	A papilloma that involves the buccal mucosa.	SCTID:448147005|ICD9:210.4|UMLS:C1332641|NCIT:C5819	mondo.json	buccal mucosa papilloma|papilloma of the buccal mucosa	http://purl.obolibrary.org/obo/MONDO_0021276	http://identifiers.org/snomedct/448147005|NCIT:C5819|UMLS:C1332641	
MONDO:0008297	biolink:Disease	variegate porphyria	Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.	NCIT:C85219|GARD:0007848|MESH:D046350|SCTID:58275005|DOID:4346|UMLS:C0162532|Orphanet:79473|OMIM:176200	mondo.json	PPOX deficiency|Protocoproporphyria|porphyria variegate|porphyria, South African type|protoporphyrinogen oxidase deficiency|porphyria variegata|porphyria variegata, susceptibility to|VP|variegate porphyria|variegate porphyria, homozygous variant	http://purl.obolibrary.org/obo/MONDO_0008297	https://omim.org/entry/176200|UMLS:C0162532|DOID:4346|http://identifiers.org/snomedct/58275005|Orphanet:79473|NCIT:C85219|http://identifiers.org/mesh/D046350	ordo_disease|gard_rare
MONDO:0021275	biolink:Disease	papilloma of eyelid	A papilloma that involves the eyelid.	NCIT:C4061|SCTID:314515006|UMLS:C1142491	mondo.json	papilloma of the eyelid|eyelid papilloma	http://purl.obolibrary.org/obo/MONDO_0021275	NCIT:C4061|UMLS:C1142491|http://identifiers.org/snomedct/314515006	
RO:0000053	biolink:NamedThing	bearer of	a relation between an independent continuant (the bearer) and a specifically dependent continuant (the dependent), in which the dependent specifically depends on the bearer for its existence	RO:0000053	mondo.json		http://purl.obolibrary.org/obo/RO_0000053		
MONDO:0008298	biolink:Disease	postaxial tetramelic oligodactyly	Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.	UMLS:C1867924|MESH:C566767|OMIM:176240|Orphanet:2730|GARD:0004065	mondo.json	postaxial oligodactyly, tetramelic|oligodactyly tetramelic postaxial	http://purl.obolibrary.org/obo/MONDO_0008298	Orphanet:2730|https://omim.org/entry/176240|http://identifiers.org/mesh/C566767|UMLS:C1867924	ordo_malformation_syndrome|gard_rare
MONDO:0008295	biolink:Disease	sporadic porphyria cutanea tarda	An instance of porphyria cutanea tarda that is acquired during the lifetime of the individual.	SCTID:402479002|UMLS:C1867968|Orphanet:443057|OMIM:176090|UMLS:C1276127|MESH:C566768	mondo.json	acquired porphyria cutanea tarda|PCT, 'sporadic' type|PCT, type 1|porphyria cutanea tarda, type I|porphyria cutanea tarda type I|porphyria cutanea tarda, type 1	http://purl.obolibrary.org/obo/MONDO_0008295	https://omim.org/entry/176090|http://identifiers.org/mesh/C566768|UMLS:C1276127|UMLS:C1867968|Orphanet:443057|http://identifiers.org/snomedct/402479002	ordo_clinical_subtype
MONDO:0008296	biolink:Disease	familial porphyria cutanea tarda	An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome.	Orphanet:95159|UMLS:C0268323|UMLS:C0162569|Orphanet:443062|SCTID:59229005|OMIM:176100	mondo.json	porphyria, hepatoerythropoietic|hereditary porphyria cutanea tarda|porphyria, Hepatocutaneous type|PCT|porphyria cutanea tarda, type 2|porphyria cutanea tarda|uroporphyrinogen decarboxylase deficiency|Urod deficiency|PCT, 'familial' type|porphyria cutanea tarda type II|PCT, type 2|porphyria cutanea tarda, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0008296	https://omim.org/entry/176100|http://identifiers.org/snomedct/59229005|Orphanet:443062|UMLS:C0268323	ordo_clinical_subtype
MONDO:0008293	biolink:Disease	porokeratosis 3, disseminated superficial actinic type		MESH:C536339|GARD:0009505|OMIM:175900	mondo.json	porokeratosis, disseminated superficial actinic 1|porokeratosis 3, disseminated superficial actinic type|DSAP1|Dsap|porokeratosis 3, multiple types|POROK3|porokeratosis, disseminated superficial actinic, 1	http://purl.obolibrary.org/obo/MONDO_0008293	http://identifiers.org/mesh/C536339|https://omim.org/entry/175900	
MONDO:0008294	biolink:Disease	acute intermittent porphyria	Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.	MESH:D017118|OMIM:176000|Orphanet:79276|NCIT:C84536|GARD:0005732|UMLS:C0162565|DOID:3890|SCTID:234422006	mondo.json	AIP|porphyria, Chester type|PBGD deficiency|uroporphyrinogen synthase deficiency|hydroxymethylbilane synthase deficiency|porphyria, acute intermittent|porphyria intermittent acute|HMBS deficiency|acute intermittent porphyria|porphyria, acute intermittent, Nonerythroid variant|AIP - acute intermittent porphyria|UPS deficiency|porphobilinogen deaminase deficiency|pyrroloporphyria|porphyria, Swedish type	http://purl.obolibrary.org/obo/MONDO_0008294	https://omim.org/entry/176000|UMLS:C0162565|Orphanet:79276|DOID:3890|http://identifiers.org/mesh/D017118|NCIT:C84536|http://identifiers.org/snomedct/234422006	ordo_disease
MONDO:0008291	biolink:Disease	porokeratosis plantaris palmaris et disseminata	Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized.	SCTID:718218005|OMIM:175850|Orphanet:737	mondo.json	POROK2|palmar, plantar and disseminated porokeratosis|porokeratosis, palmar, plantar, and disseminated, 1|porokeratosis 2, palmar, plantar, and disseminated|porokeratosis plantaris palmaris et disseminata|porokeratosis, palmar, plantar, and disseminated|porokeratosis palmaris Et plantaris disseminata|porokeratosis 2, palmar, plantar, and disseminated type	http://purl.obolibrary.org/obo/MONDO_0008291	Orphanet:737|https://omim.org/entry/175850|http://identifiers.org/snomedct/718218005	ordo_disease
MONDO:0008292	biolink:Disease	punctate palmoplantar keratoderma type 2	Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ("spiny keratosis") on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed.	Orphanet:79502|UMLS:C1867982|OMIM:175860|SCTID:765096001|DOID:0080213|GARD:0004439	mondo.json	porokeratosis punctata palmaris Et plantaris|palmoplantar keratoderma, punctate type II|PPPP|type 2 punctate PPK|keratoderma palmoplantar, punctate type 2|punctate palmoplantar hyperkeratosis type 2|punctate palmoplantar keratoderma type II|PPKP2	http://purl.obolibrary.org/obo/MONDO_0008292	https://omim.org/entry/175860|Orphanet:79502|UMLS:C1867982|http://identifiers.org/snomedct/765096001|DOID:0080213	ordo_disease
MONDO:0008290	biolink:Disease	porokeratosis 1, Mibelli type		OMIM:175800	mondo.json	porokeratosis of Mibelli|POROK1|porokeratosis 1, MIBELLI type|porokeratosis 1, multiple types	http://purl.obolibrary.org/obo/MONDO_0008290	https://omim.org/entry/175800	
MONDO:0035882	biolink:Disease	chronic intervillositis of unknown etiology		Orphanet:615970	mondo.json	CIUE	http://purl.obolibrary.org/obo/MONDO_0035882	Orphanet:615970	ordo_disorder
GO:0015031	biolink:NamedThing	protein transport	The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	enzyme transport	http://purl.obolibrary.org/obo/GO_0015031		
MONDO:0021260	biolink:Disease	sensory ganglionopathy	A disease or disorder that involves the sensory ganglion.		mondo.json	sensory ganglion disease or disorder|sensory ganglion disease|disorder of sensory ganglion|disease of sensory ganglion|disease or disorder of sensory ganglion	http://purl.obolibrary.org/obo/MONDO_0021260		
GO:0030667	biolink:NamedThing	secretory granule membrane	The lipid bilayer surrounding a secretory granule.		mondo.json	secretory vesicle membrane	http://purl.obolibrary.org/obo/GO_0030667		
HP:0002846	biolink:PhenotypicFeature	Abnormal B cell morphology	A structural abnormality of B cells.	UMLS:C4021748	mondo.json	Abnormality of B cells|Abnormal B cells	http://purl.obolibrary.org/obo/HP_0002846		
MONDO:0035892	biolink:Disease	Mills syndrome	A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and contorversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease.	Orphanet:94091	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035892	Orphanet:94091	ordo_disease
HP:0002840	biolink:PhenotypicFeature	Lymphadenitis	Inflammation of a lymph node.	MSH:D008199|SNOMEDCT_US:19471005|UMLS:C0024205	mondo.json	Inflammation of the lymph nodes	http://purl.obolibrary.org/obo/HP_0002840		
HGNC:12601	biolink:NamedThing	USH2A			mondo.json		http://identifiers.org/hgnc/12601		
MONDO:0035819	biolink:Disease	cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome		OMIM:619273|Orphanet:603448	mondo.json	CIMDAG syndrome	http://purl.obolibrary.org/obo/MONDO_0035819	Orphanet:603448|https://omim.org/entry/619273	ordo_disorder
MONDO:0023833	biolink:Disease	multifocal choroiditis	Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment.	GARD:0009824|MESH:D000080364|UMLS:C1533060|SCTID:414783007|MESH:C537374	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023833	http://identifiers.org/snomedct/414783007|UMLS:C1533060|http://identifiers.org/mesh/D000080364	gard_rare
MONDO:0011845	biolink:Disease	migraine with or without aura, susceptibility to, 3		OMIM:607498	mondo.json	migraine with or without aura, susceptibility to, 3|MGR3|migraine with or without aura, susceptibility to, type 3	http://purl.obolibrary.org/obo/MONDO_0011845	https://omim.org/entry/607498	predisposition
GO:0042640	biolink:NamedThing	anagen	The growth phase of the hair cycle. Lasts, for example, about 3 to 6 years for human scalp hair.		mondo.json	hair growth	http://purl.obolibrary.org/obo/GO_0042640		
MONDO:0011844	biolink:Disease	myoclonic dystonia 15	A myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11.	MESH:C538002|DOID:0090035|Orphanet:210566|OMIM:607488|UMLS:C1843786	mondo.json	myoclonic dystonia type 15|dystonia-15, myoclonic|DYT15|dystonia 15, myoclonic	http://purl.obolibrary.org/obo/MONDO_0011844	DOID:0090035|UMLS:C1843786|Orphanet:210566|https://omim.org/entry/607488|http://identifiers.org/mesh/C538002	
UBERON:0007490	biolink:AnatomicalEntity	keratin-based acellular structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007490		
MONDO:0011847	biolink:Disease	migraine without aura, susceptibility to, 4	An inherited susceptibility or predisposition to developing migraines without aura.	HP:0002083|EFO:0005296|ICD9:346.1|NCIT:C117004|SCTID:56097005|DOID:12783|OMIM:607501|MESH:D020326|UMLS:C0338480	mondo.json	migraine without aura, susceptibility to, type 4|common migraine|migraine without aura, susceptibility to, 4|MGR4|MGOA	http://purl.obolibrary.org/obo/MONDO_0011847	https://omim.org/entry/607501	predisposition
MONDO:0011846	biolink:Disease	bulimia nervosa, susceptibility to, 1		OMIM:607499|UMLS:CN244558	mondo.json	bulimia nervosa, susceptibility to, 2|BULN|BULN2|bulimia nervosa, susceptibility to, 1|anorexia nervosa, susceptibility to, 2|susceptibility to bulimia nervosa 2|bulimia nervosa, susceptibility to, type 2|bulimia nervosa, susceptibility to|BULN1|BN	http://purl.obolibrary.org/obo/MONDO_0011846	https://omim.org/entry/607499|UMLS:CN244558	predisposition
MONDO:0011849	biolink:Disease	psoriatic arthritis	Joint inflammation associated with psoriasis.	MESH:D015535|SCTID:156370009|Orphanet:40050|OMIM:607507|ICD9:696.0|UMLS:C0003872|EFO:0003778|DOID:9008|NCIT:C61277	mondo.json	psoriatic arthritis, susceptibility to|arthropathic psoriasis|arthritis psoriatica|psoriatic arthropathy|psoriatic arthritis, susceptibility to, 1|susceptibility to psoriatic arthritis	http://purl.obolibrary.org/obo/MONDO_0011849	NCIT:C61277|http://identifiers.org/snomedct/156370009|DOID:9008|Orphanet:40050|http://identifiers.org/mesh/D015535|UMLS:C0003872	predisposition
MONDO:0011848	biolink:Disease	headache associated with sexual activity		OMIM:607504|ICD10CM:G44.82	mondo.json	headache associated with sexual activity|HSA|benign sexual headache	http://purl.obolibrary.org/obo/MONDO_0011848	http://purl.bioontology.org/ontology/ICD10CM/G44.82|https://omim.org/entry/607504	
UBERON:0007499	biolink:AnatomicalEntity	epithelial sac			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007499		
HGNC:3363	biolink:NamedThing	ENTPD1			mondo.json		http://identifiers.org/hgnc/3363		
MONDO:0011850	biolink:Disease	migraine with or without aura, susceptibility to, 5		OMIM:607508	mondo.json	migraine with or without aura, susceptibility to, 5|migraine with or without aura, susceptibility to, type 5|Mgr5	http://purl.obolibrary.org/obo/MONDO_0011850	https://omim.org/entry/607508	predisposition
MONDO:0011852	biolink:Disease	nonsyndromic congenital nail disorder 8	Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the COL7A1 gene.	UMLS:C1843761|DOID:0080086|MESH:C564384|OMIM:607523	mondo.json	nonsyndromic congenital nail disorder type 8|toenail dystrophy, isolated|inherited isolated nail anomaly caused by mutation in COL7A1|nail disorder, nonsyndromic congenital, 8|NDNC8|nail disorder, nonsyndromic congenital, type 8|COL7A1 inherited isolated nail anomaly	http://purl.obolibrary.org/obo/MONDO_0011852	https://omim.org/entry/607523|DOID:0080086|UMLS:C1843761|http://identifiers.org/mesh/C564384	
MONDO:0011851	biolink:Disease	migraine with or without aura, susceptibility to, 6		Orphanet:569|OMIM:607516|MESH:C564385	mondo.json	migraine with or without aura, susceptibility to, 6|migraine with or without aura, susceptibility to, type 6|MGR6|migraine, familial hemiplegic, 4	http://purl.obolibrary.org/obo/MONDO_0011851	https://omim.org/entry/607516|http://identifiers.org/mesh/C564385	predisposition
MONDO:0011854	biolink:Disease	secretory diarrhea, myopathy, and deafness		MESH:C564382|OMIM:607540|UMLS:C1843757	mondo.json	secretory diarrhea, myopathy, and deafness	http://purl.obolibrary.org/obo/MONDO_0011854	https://omim.org/entry/607540|UMLS:C1843757|http://identifiers.org/mesh/C564382	
MONDO:0011853	biolink:Disease	Camptosynpolydactyly, complex		MESH:C564383|OMIM:607539|UMLS:C1843758	mondo.json	camptosynpolydactyly, complex|camptopolydactyly, disorganization type|CCSPD	http://purl.obolibrary.org/obo/MONDO_0011853	https://omim.org/entry/607539|UMLS:C1843758|http://identifiers.org/mesh/C564383	
GO:0042645	biolink:NamedThing	mitochondrial nucleoid	The region of a mitochondrion to which the DNA is confined.		mondo.json		http://purl.obolibrary.org/obo/GO_0042645		
MONDO:0035823	biolink:Disease	KLHL7-related Bohring-Opitz-like syndrome		Orphanet:603689	mondo.json	KLHL7-related BOS-like syndrome	http://purl.obolibrary.org/obo/MONDO_0035823	Orphanet:603689	ordo_disorder
MONDO:0035821	biolink:Disease	isolated female hypospadias		Orphanet:603515	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035821	Orphanet:603515	ordo_disorder
MONDO:0008208	biolink:Disease	patella, familial recurrent dislocation of		UMLS:C1868575|OMIM:169000|MESH:C566816	mondo.json	patella, familial recurrent dislocation of	http://purl.obolibrary.org/obo/MONDO_0008208	http://identifiers.org/mesh/C566816|UMLS:C1868575|https://omim.org/entry/169000	
MONDO:0008209	biolink:Disease	Char syndrome	Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.	ICD9:759.89|SCTID:703534001|GARD:0001237|OMIM:169100|DOID:0060563|UMLS:C1868570|MESH:C566815|Orphanet:46627	mondo.json	CHAR syndrome|CHAR|Char|patent ductus arteriosus with facial dysmorphism and abnormal fifth digits|Char syndrome|patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits	http://purl.obolibrary.org/obo/MONDO_0008209	Orphanet:46627|http://identifiers.org/mesh/C566815|UMLS:C1868570|https://omim.org/entry/169100|http://identifiers.org/snomedct/703534001|DOID:0060563	gard_rare|ordo_malformation_syndrome
MONDO:0023820	biolink:Disease	Moebius axonal neuropathy hypogonadism		GARD:0003698|UMLS:C2931024|MESH:C535806	mondo.json	Moebius syndrome with hypogonadotrophic hypogonadism and progressive peripheral neuropathy axonal and demyelinating type	http://purl.obolibrary.org/obo/MONDO_0023820	http://identifiers.org/mesh/C535806	gard_rare
MONDO:0035826	biolink:Disease	symptomatic form of x-linked centronuclear myopathy in female carriers		Orphanet:604680	mondo.json	Symptomatic form of XLCNM in female carriers|Symptomatic form of XLMTM in female carriers|Symptomatic form of X-linked myotubular myopathy in female carriers	http://purl.obolibrary.org/obo/MONDO_0035826	Orphanet:604680	ordo_disorder
NCBITaxon:91827	biolink:OrganismalEntity	Gunneridae		GC_ID:1	mondo.json	core eudicots|core eudicotyledons	http://purl.obolibrary.org/obo/NCBITaxon_91827		
MONDO:0008206	biolink:Disease	benign paroxysmal tonic upgaze of childhood with ataxia	Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.	OMIM:168885|SCTID:763127004|UMLS:C1868576|MESH:C566817|GARD:0004176|Orphanet:1179	mondo.json	Ouvrier Billson syndrome|Ouvrier-Billson syndrome|paroxysmal tonic upgaze, benign childhood, with ataxia	http://purl.obolibrary.org/obo/MONDO_0008206	Orphanet:1179|http://identifiers.org/mesh/C566817|UMLS:C1868576|https://omim.org/entry/168885|http://identifiers.org/snomedct/763127004	ordo_disease
MONDO:0008207	biolink:Disease	chondromalacia patellae	Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission.	OMIM:168900|ICD10CM:M22.4|SCTID:36071006|DOID:13357|Orphanet:1428|UMLS:C0008475|MESH:D046789|ICD9:717.7	mondo.json	chondromalacia patellae|familial chondromalacia patellae|softening of articular cartilage of patella|patella, chondromalacia OF|patella chondromalacia|chondromalacia of patella	http://purl.obolibrary.org/obo/MONDO_0008207	http://purl.bioontology.org/ontology/ICD10CM/M22.4|Orphanet:1428|UMLS:C0008475|DOID:13357|http://identifiers.org/snomedct/36071006|https://omim.org/entry/168900|http://identifiers.org/mesh/D046789	ordo_disease
MONDO:0035824	biolink:Disease	KLHL7-related cold-induced sweating-like syndrome		Orphanet:603694	mondo.json	KLHL7-related Crisponi-like syndrome	http://purl.obolibrary.org/obo/MONDO_0035824	Orphanet:603694	ordo_disorder
MONDO:0011834	biolink:Disease	spinocerebellar ataxia type 18	Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia.	UMLS:C4304848|GARD:0009976|DOID:0050969|UMLS:C1843884|Orphanet:98771|MESH:C537197|SCTID:719250005|OMIM:607458	mondo.json	spinocerebellar ataxia 18|sensorimotor neuropathy with ataxia autosomal dominant|SCA18|SMNA|sensorimotor neuropathy with ataxia, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0011834	Orphanet:98771|UMLS:C1843884|DOID:0050969|https://omim.org/entry/607458|http://identifiers.org/mesh/C537197|http://identifiers.org/snomedct/719250005	ordo_disease
MONDO:0008204	biolink:Disease	obsolete patella aplasia, coxa vara, and tarsal synostosis		MESH:C536307|OMIM:168850	mondo.json	patella aplasia, coxa vara, and tarsal synostosis	http://purl.obolibrary.org/obo/MONDO_0008204	http://identifiers.org/mesh/C536307|https://omim.org/entry/168850	
MONDO:0011833	biolink:Disease	spinocerebellar ataxia type 21	Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.	DOID:0050972|Orphanet:98773|GARD:0009999|OMIM:607454|SCTID:718774001|MESH:C537200|UMLS:C1843891|UMLS:C4305144	mondo.json	spinocerebellar ataxia 21|spinocerebellar ataxia type 21|SCA21	http://purl.obolibrary.org/obo/MONDO_0011833	Orphanet:98773|UMLS:C1843891|DOID:0050972|https://omim.org/entry/607454|http://identifiers.org/mesh/C537200|http://identifiers.org/snomedct/718774001	ordo_disease
MONDO:0008205	biolink:Disease	patella aplasia/hypoplasia	Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.	OMIM:168860|MESH:C535568|Orphanet:86789|GARD:0008709	mondo.json	familial absence of the patella|patella aplasia-hypoplasia|PTLAH|absent patella|familial aplasia of the patella (subtype)|patella aplasia or hypoplasia	http://purl.obolibrary.org/obo/MONDO_0008205	Orphanet:86789|http://identifiers.org/mesh/C535568|https://omim.org/entry/168860	ordo_morphological_anomaly
MONDO:0011836	biolink:Disease	thyroid Hurthle cell carcinoma		SCTID:423158009|OMIM:607464|GARD:0009428|MESH:C536913|ONCOTREE:THHC|NCIT:C4946|DOID:8161	mondo.json	thyroid cancer, Hurthle cell|thyroid carcinoma, Hurthle cell|thyroid cancer, follicular, Hurthle cell type|Hurthle cell thyroid cancer|Hurthle cell thyroid neoplasia|follicular thyroid cancer, Hurthle cell type|oncocytic carcinoma of the thyroid	http://purl.obolibrary.org/obo/MONDO_0011836	http://identifiers.org/mesh/C536913|DOID:8161|http://identifiers.org/snomedct/423158009|https://omim.org/entry/607464	
MONDO:0008202	biolink:Disease	Parotidomegaly, hereditary bilateral		MESH:C566821|OMIM:168800|UMLS:C1868590	mondo.json	Parotidomegaly, hereditary bilateral	http://purl.obolibrary.org/obo/MONDO_0008202	UMLS:C1868590|http://identifiers.org/mesh/C566821|https://omim.org/entry/168800	
MONDO:0008203	biolink:Disease	Passovoy factor defect		UMLS:C3149707|OMIM:168830	mondo.json	Passovoy factor defect	http://purl.obolibrary.org/obo/MONDO_0008203	UMLS:C3149707|https://omim.org/entry/168830	
MONDO:0011835	biolink:Disease	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	A syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.	OMIM:607459|GARD:0009998|Orphanet:70595|Orphanet:402082|UMLS:C1843851|DOID:0111276|UMLS:CN226157|OMIM:613832	mondo.json	epilepsy, progressive myoclonic, 5, formerly|progressive myoclonus epilepsy type 5|spinocerebellar ataxia with epilepsy|epilepsy, progressive myoclonic, type 5|sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive|sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|SANDO|sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome|epilepsy, progressive myoclonic, with sensory ataxic neuropathy|epilepsy, progressive myoclonic, 5|progressive myoclonic epilepsy caused by mutation in PRICKLE2|mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)|PME type 5|EPM5|PRICKLE2 progressive myoclonic epilepsy	http://purl.obolibrary.org/obo/MONDO_0011835	DOID:0111276|UMLS:C1843851|Orphanet:70595|Orphanet:402082|https://omim.org/entry/613832|https://omim.org/entry/607459|UMLS:CN226157	ordo_disease
MONDO:0011838	biolink:Disease	Bothnia retinal dystrophy	A rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted.	DOID:0050683|UMLS:C1843816|MESH:C564392|SCTID:715647007|OMIM:607475|ICD10CM:H35.5|Orphanet:85128	mondo.json	Vasterbotten dystrophy|Västerbotten dystrophy|Bothnia retinal dystrophy|VC$sterbotten dystrophy	http://purl.obolibrary.org/obo/MONDO_0011838	Orphanet:85128|http://identifiers.org/snomedct/715647007|DOID:0050683|UMLS:C1843816|http://identifiers.org/mesh/C564392|https://omim.org/entry/607475	ordo_disease
MONDO:0008200	biolink:Disease	autosomal dominant Parkinson disease 1		DOID:0060367|Orphanet:171695|OMIM:168601|MESH:C566823	mondo.json	autosomal dominant Parkinson disease type 1|Parkinson disease 1, autosomal dominant Lewy body|atypical Parkinson disease|autosomal dominant Parkinson's disease 1|PARK1|autosomal dominant Parkinson disease 1|Parkinson disease 1, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008200	http://identifiers.org/mesh/C566823|DOID:0060367|https://omim.org/entry/168601	
MONDO:0008201	biolink:Disease	Perry syndrome	Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.	SCTID:699184009|GARD:0010453|DOID:0060486|OMIM:168605|Orphanet:178509|ICD9:348.89|UMLS:C1868594|MESH:C566822	mondo.json	parkinsonism with alveolar hypoventilation and mental depression|Perry syndrome|Parkinsonism with alveolar hypoventilation and mental depression	http://purl.obolibrary.org/obo/MONDO_0008201	http://identifiers.org/mesh/C566822|UMLS:C1868594|DOID:0060486|https://omim.org/entry/168605|http://identifiers.org/snomedct/699184009|Orphanet:178509	gard_rare|ordo_disease
MONDO:0011837	biolink:Disease	vitamin K-dependent clotting factors, combined deficiency of, type 2	Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene.	MESH:C564393|UMLS:C1843832|OMIM:607473	mondo.json	VKORC1 congenital vitamin K-dependent coagulation factors combined deficiency|vitamin K-dependent clotting factors, combined deficiency of, 2|vitamin K-dependent clotting factors, combined deficiency of, type 2|congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in VKORC1|VKCFD2	http://purl.obolibrary.org/obo/MONDO_0011837	UMLS:C1843832|http://identifiers.org/mesh/C564393|https://omim.org/entry/607473	
MONDO:0011839	biolink:Disease	Newfoundland cone-rod dystrophy	Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene.	DOID:0111015|MESH:C564391|UMLS:C1843815|OMIM:607476	mondo.json	RLBP1 cone-rod dystrophy|cone-rod dystrophy caused by mutation in RLBP1|NFRCD|Newfoundland ROD-cone dystrophy	http://purl.obolibrary.org/obo/MONDO_0011839	DOID:0111015|UMLS:C1843815|http://identifiers.org/mesh/C564391|https://omim.org/entry/607476	
HGNC:3374	biolink:NamedThing	EPAS1			mondo.json		http://identifiers.org/hgnc/3374		
HGNC:3373	biolink:NamedThing	EP300			mondo.json		http://identifiers.org/hgnc/3373		
MONDO:0011841	biolink:Disease	biotin-responsive basal ganglia disease		SCTID:703522009|Orphanet:65284|ICD9:333.99|UMLS:C1843807|DOID:0050659|SCTID:723557004|OMIM:607483|GARD:0010237|Orphanet:199348|MESH:C537658	mondo.json	biotin-thiamine-responsive basal ganglia disease|basal ganglia disease, biotin-responsive|BTBGD|THMD2|BBGD|thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)|thiamine-responsive encephalopathy|thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)|encephalopathy, thiamine-responsive	http://purl.obolibrary.org/obo/MONDO_0011841	Orphanet:199348|http://identifiers.org/snomedct/703522009|Orphanet:65284|https://omim.org/entry/607483|http://identifiers.org/mesh/C537658|DOID:0050659|http://identifiers.org/snomedct/723557004|UMLS:C1843807	ordo_disease
MONDO:0011840	biolink:Disease	dilated cardiomyopathy 1M	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.	MESH:C564390|OMIM:607482|UMLS:C1843808|DOID:0110449	mondo.json	cardiomyopathy, dilated, 1M|CSRP3 familial isolated dilated cardiomyopathy|dilated cardiomyopathy type 1M|familial isolated dilated cardiomyopathy caused by mutation in CSRP3|CMD1M|cardiomyopathy, dilated, type 1M	http://purl.obolibrary.org/obo/MONDO_0011840	https://omim.org/entry/607482|UMLS:C1843808|http://identifiers.org/mesh/C564390|DOID:0110449	
MONDO:0011843	biolink:Disease	hypertrophic cardiomyopathy 25	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene.	OMIM:607487|UMLS:C1843791|MESH:C564388|DOID:0110328	mondo.json	Tcap hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 25|hypertrophic cardiomyopathy caused by mutation in Tcap|hypertrophic cardiomyopathy caused by mutation in TCAP|CMH25|cardiomyopathy familial hypertrophic 25|cardiomyopathy, familial hypertrophic, type 25|cardiomyopathy, hypertrophic, 25|TCAP hypertrophic cardiomyopathy|hypertrophic cardiomyopathy type 25	http://purl.obolibrary.org/obo/MONDO_0011843	http://identifiers.org/mesh/C564388|DOID:0110328|https://omim.org/entry/607487|UMLS:C1843791	
MONDO:0011842	biolink:Disease	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31.	DOID:0060672|OMIM:607485	mondo.json	frontotemporal dementia with Tdp43 inclusions, Grn-related|frontotemporal lobar degeneration with Tdp43 inclusions, Grn-related|frontotemporal dementia, ubiquitin-positive|frontotemporal lobar Degeneration with ubiquitin-positive inclusions|aphasia, primary progressive|dementia, hereditary dysphasic disinhibition|Ftld-TDP, Grn-related	http://purl.obolibrary.org/obo/MONDO_0011842	DOID:0060672|https://omim.org/entry/607485	
HGNC:3378	biolink:NamedThing	EPB41L1			mondo.json		http://identifiers.org/hgnc/3378		
HGNC:3377	biolink:NamedThing	EPB41			mondo.json		http://identifiers.org/hgnc/3377		
MONDO:0035838	biolink:Disease	idiopathic multicentric Castleman disease		Orphanet:570431	mondo.json	HHV-8-negative multicentric Castleman disease|Human herpesvirus-8-negative multicentric Castleman disease	http://purl.obolibrary.org/obo/MONDO_0035838	Orphanet:570431	ordo_subtype_of_a_disorder
MONDO:0011823	biolink:Disease	developmental malformations-deafness-dystonia syndrome	Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.	OMIM:607371|UMLS:C1846331|Orphanet:79107|GARD:0009818|MESH:C537704	mondo.json	DJO|juvenile-onset dystonia|dystonia, juvenile-onset	http://purl.obolibrary.org/obo/MONDO_0011823	http://identifiers.org/mesh/C537704|Orphanet:79107|UMLS:C1846331|https://omim.org/entry/607371	ordo_malformation_syndrome|gard_rare
MONDO:0011822	biolink:Disease	Bartter disease type 3	Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.	OMIM:607364|GARD:0009659|Orphanet:93605|DOID:0110144|SCTID:700111000|UMLS:C1846343	mondo.json	Bartter disease type 3|Bartter syndrome, classic|Bartter syndrome classic|adult Bartter syndrome|BARTS3|Bartter syndrome type III|Bartter syndrome, type 3, with hypocalciuria|Bartter syndrome type 3|classic Bartter syndrome|Bartter syndrome, type 3	http://purl.obolibrary.org/obo/MONDO_0011822	DOID:0110144|http://identifiers.org/snomedct/700111000|Orphanet:93605|UMLS:C1846343|https://omim.org/entry/607364	ordo_clinical_subtype
MONDO:0011825	biolink:Disease	streptococcus, group A, severity of infection by		OMIM:607395	mondo.json	streptococcus, group A, severity of infection by	http://purl.obolibrary.org/obo/MONDO_0011825	https://omim.org/entry/607395	
MONDO:0011824	biolink:Disease	autism, susceptibility to, 8		OMIM:607373	mondo.json	autism susceptibility 8, isolated cases|AUTS2|autism, susceptibility to, 8|AUTS8|AUTS2, formerly	http://purl.obolibrary.org/obo/MONDO_0011824	https://omim.org/entry/607373	predisposition
CL:0000988	biolink:Cell	hematopoietic cell	A cell of a hematopoietic lineage.	CALOHA:TS-2017|FMA:70366|FMA:83598|BTO:0000574	mondo.json	hemopoietic cell|haemopoietic cell|haematopoietic cell	http://purl.obolibrary.org/obo/CL_0000988		
MONDO:0011827	biolink:Disease	patent ductus arteriosus	A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure.	NCIT:C84492|SCTID:83330001|MESH:D004374|DOID:13832|ICD9:747.0|ICD10CM:Q25.0|OMIMPS:607411|GARD:0007342|Orphanet:706	mondo.json	ductus arteriosus, patent|patency of the ductus arteriosus|PDA|patent ductus arteriosus familial (type)|patent ductus arteriosus|patent ductus botalli|persistent patency of the arterial duct	http://purl.obolibrary.org/obo/MONDO_0011827	Orphanet:706|http://purl.bioontology.org/ontology/ICD10CM/Q25.0|DOID:13832|http://identifiers.org/mesh/D004374|NCIT:C84492|http://identifiers.org/snomedct/83330001|https://omim.org/phenotypicSeries/PS607411	prototype_pattern|gard_rare
MONDO:0011826	biolink:Disease	glucocorticoid deficiency 2	Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene.	MESH:C564577|NCIT:C123728|UMLS:C1846284|OMIM:607398	mondo.json	glucocorticoid deficiency type 2|MRAP familial glucocorticoid deficiency|familial glucocorticoid deficiency caused by mutation in MRAP|familial glucocorticoid deficiency 2|glucocorticoid deficiency 2|GCCD2	http://purl.obolibrary.org/obo/MONDO_0011826	http://identifiers.org/mesh/C564577|https://omim.org/entry/607398|NCIT:C123728	
MONDO:0011829	biolink:Disease	coenzyme Q10 deficiency, primary, 1	Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene.	DOID:0070238|OMIM:607426|UMLS:C3551954	mondo.json	ubiquinone deficiency 1|coenzyme Q10 deficiency, primary, type 1|CoQ deficiency 1|Coq10 deficiency, primary, 1|coenzyme Q10 deficiency caused by mutation in COQ2|coenzyme Q deficiency 1|COQ2 coenzyme Q10 deficiency|coenzyme Q10 deficiency, primary, 1|COQ10D1	http://purl.obolibrary.org/obo/MONDO_0011829	DOID:0070238|https://omim.org/entry/607426|UMLS:C3551954	
NCBITaxon:42862	biolink:OrganismalEntity	Rickettsia felis		PMID:11321078|PMID:8904435|PMID:12508865|GC_ID:11	mondo.json	Rickettsia azadi	http://purl.obolibrary.org/obo/NCBITaxon_42862		
MONDO:0011828	biolink:Disease	intellectual disability, autosomal recessive 2	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRBN gene.	OMIM:607417|UMLS:C1843942|MESH:C564404	mondo.json	mental retardation, autosomal recessive type 2|CRBN autosomal recessive non-syndromic intellectual disability|MRT2|mental retardation, autosomal recessive 2A|intellectual disability, autosomal recessive type 2|mental retardation, autosomal recessive 2|autosomal recessive non-syndromic intellectual disability caused by mutation in CRBN|intellectual disability, autosomal recessive 2|intellectual disability, autosomal recessive 2A	http://purl.obolibrary.org/obo/MONDO_0011828	UMLS:C1843942|http://identifiers.org/mesh/C564404|https://omim.org/entry/607417	
MONDO:0023809	biolink:Disease	Milner-Khallouf-Gibson syndrome		UMLS:C2931503|GARD:0003670|MESH:C537473	mondo.json	microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm and thumb dysplasia|Milner Khallouf Gibson syndrome	http://purl.obolibrary.org/obo/MONDO_0023809	http://identifiers.org/mesh/C537473|UMLS:C2931503	gard_rare
GO:0040007	biolink:NamedThing	growth	The increase in size or mass of an entire organism, a part of an organism or a cell.		mondo.json	non-developmental growth|growth pattern	http://purl.obolibrary.org/obo/GO_0040007		
GO:0040008	biolink:NamedThing	regulation of growth	Any process that modulates the frequency, rate or extent of the growth of all or part of an organism so that it occurs at its proper speed, either globally or in a specific part of the organism's development.		mondo.json		http://purl.obolibrary.org/obo/GO_0040008		
UBERON:0007475	biolink:AnatomicalEntity	matrix-based tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007475		
HGNC:3383	biolink:NamedThing	STOM			mondo.json		http://identifiers.org/hgnc/3383		
CL:0000980	biolink:Cell	plasmablast	An activated mature (naive or memory) B cell that is secreting immunoglobulin, typified by being CD27-positive, CD38-positive, CD138-negative.	FMA:84371	mondo.json	CD27-positive, CD38-positive, CD20-negative B cell|CD20-negative B cell	http://purl.obolibrary.org/obo/CL_0000980		
MONDO:0011830	biolink:Disease	lissencephaly due to LIS1 mutation	Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.	Orphanet:95232|Orphanet:99796|OMIM:607432|UMLS:C1848201|UMLS:CN228917	mondo.json	LIS1|lissencephaly 1|subcortical band heterotopia|subcortical laminar heterotopia|PAFAH1B1-related lissencephaly|lissencephaly sequence, isolated|lissencephaly, classic	http://purl.obolibrary.org/obo/MONDO_0011830	Orphanet:95232|https://omim.org/entry/607432|UMLS:CN228917	ordo_disease
CL:0000981	biolink:Cell	double negative memory B cell	A memory B cell with the phenotype IgD-negative and CD27-negative.		mondo.json	double negative memory B-cell|double negative memory B lymphocyte|double negative memory B-lymphocyte|dn memory B cell|dn memory B-cell|dn memory B lymphocyte|dn memory B-lymphocyte	http://purl.obolibrary.org/obo/CL_0000981		
HGNC:3381	biolink:NamedThing	EPB42			mondo.json		http://identifiers.org/hgnc/3381		
UBERON:0007473	biolink:AnatomicalEntity	lumen of epithelial sac			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007473		
MONDO:0011832	biolink:Disease	autosomal dominant nonsyndromic hearing loss 44	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene.	DOID:0110569|OMIM:607453|UMLS:C1843895|MESH:C564399	mondo.json	autosomal dominant nonsyndromic deafness type 44|autosomal dominant nonsyndromic deafness 44|autosomal dominant deafness 44|DFNA44|autosomal dominant nonsyndromic deafness caused by mutation in CCDC50|deafness, autosomal dominant type 44|CCDC50 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 44	http://purl.obolibrary.org/obo/MONDO_0011832	UMLS:C1843895|http://identifiers.org/mesh/C564399|DOID:0110569|https://omim.org/entry/607453	
MONDO:0011831	biolink:Disease	arrhythmogenic right ventricular dysplasia 8	Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene.	OMIM:607450|DOID:0110076|UMLS:C1843896|MESH:C564400	mondo.json	ARVC8|arrhythmogenic right ventricular cardiomyopathy 8|arrhythmogenic right ventricular dysplasia, familial, 8|arrhythmogenic right ventricular dysplasia type 8|ARVD8|arrhythmogenic right ventricular dysplasia 8|DSP arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic right ventricular dysplasia, familial, type 8|arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSP|familial arrhythmogenic right ventricular dysplasia 8	http://purl.obolibrary.org/obo/MONDO_0011831	DOID:0110076|UMLS:C1843896|http://identifiers.org/mesh/C564400|https://omim.org/entry/607450	
CHEBI:15022	biolink:ChemicalSubstance	electron donor	A molecular entity that can transfer an electron to another molecular entity.		mondo.json	Elektronendonator|donneur d'electron|electron donor	http://purl.obolibrary.org/obo/CHEBI_15022		
MONDO:0023807	biolink:Disease	obsolete midphalangeal hair		OMIM:157200|MESH:C537471|GARD:0009992	mondo.json	Middigital hair|midphalangeal hair	http://purl.obolibrary.org/obo/MONDO_0023807	http://identifiers.org/mesh/C537471|https://omim.org/entry/157200	gard_rare|not_a_disease
HGNC:3386	biolink:NamedThing	EPHA2			mondo.json		http://identifiers.org/hgnc/3386		
MONDO:0011819	biolink:Disease	spinocerebellar ataxia type 19/22	Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.	MESH:C542540|GARD:0012365|DOID:0050970|OMIM:607346|Orphanet:98772|SCTID:719251009|MESH:C537198	mondo.json	spinocerebellar ataxia 19|spinocerebellar ataxia 22|spinocerebellar ataxia type 19|SCA19|SCA19/22|spinocerebellar ataxia 19 and 22	http://purl.obolibrary.org/obo/MONDO_0011819	https://omim.org/entry/607346|http://identifiers.org/snomedct/719251009|http://identifiers.org/mesh/C537198|http://identifiers.org/mesh/C542540|Orphanet:98772|DOID:0050970	ordo_disease
MONDO:0011812	biolink:Disease	Duane-radial ray syndrome	A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disc coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.	UMLS:CN206803|SCTID:720415006|GARD:0009182|SCTID:699867001|OMIM:607323|DOID:0060747|ICD9:759.89|Orphanet:959|Orphanet:93293	mondo.json	acrorenocular syndrome|Duane anomaly with radial ray abnormalities and deafness|DR syndrome|Duane-radial ray syndrome|Duane anomaly with radial abnormalities and deafness|Okihiro syndrome|acro-renal-ocular syndrome|DRRS	http://purl.obolibrary.org/obo/MONDO_0011812	Orphanet:959|http://identifiers.org/snomedct/699867001|DOID:0060747|UMLS:CN206803|http://identifiers.org/snomedct/720415006|Orphanet:93293|https://omim.org/entry/607323	gard_rare|ordo_malformation_syndrome
MONDO:0011811	biolink:Disease	autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.	UMLS:C1846492|GARD:0004952|OMIM:607317|DOID:0111611|Orphanet:95434|MESH:C537310	mondo.json	spinocerebellar ataxia 24, formerly|spinocerebellar ataxia 24|spinocerebellar ataxia autosomal recessive 4|spinocerebellar ataxia, autosomal recessive 4|SCASI|spinocerebellar ataxia 24 (formerly)|spinocerebellar ataxia with saccadic Intrusions|SCAR4	http://purl.obolibrary.org/obo/MONDO_0011811	http://identifiers.org/mesh/C537310|DOID:0111611|Orphanet:95434|https://omim.org/entry/607317|UMLS:C1846492	ordo_disease
GO:0040011	biolink:NamedThing	locomotion	Self-propelled movement of a cell or organism from one location to another.		mondo.json		http://purl.obolibrary.org/obo/GO_0040011		
MONDO:0011814	biolink:Disease	Smith-McCort dysplasia 1	Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene.	UMLS:C3888088|OMIM:607326	mondo.json	Smith-McCort dysplasia caused by mutation in DYM|Smith-McCort dysplasia|SMC|SMITH-McCort dysplasia 1|Smc1|Smith-McCort dysplasia 1|Smith-McCort dysplasia type 1|DYM Smith-McCort dysplasia	http://purl.obolibrary.org/obo/MONDO_0011814	https://omim.org/entry/607326|UMLS:C3888088	
GO:0040012	biolink:NamedThing	regulation of locomotion	Any process that modulates the frequency, rate or extent of locomotion of a cell or organism.		mondo.json		http://purl.obolibrary.org/obo/GO_0040012		
GO:0040013	biolink:NamedThing	negative regulation of locomotion	Any process that stops, prevents, or reduces the frequency, rate or extent of locomotion of a cell or organism.		mondo.json	downregulation of locomotion|down regulation of locomotion|inhibition of locomotion|down-regulation of locomotion	http://purl.obolibrary.org/obo/GO_0040013		
CL:1000746	biolink:Cell	glomerular cell		KUPO:0001036	mondo.json		http://purl.obolibrary.org/obo/CL_1000746		
MONDO:0011813	biolink:Disease	polydactyly, postaxial, type A3		OMIM:607324|MESH:C564590|UMLS:C1846452	mondo.json	Papa3|polydactyly, postaxial, type A3|postaxial polydactyly, type A3|PAPA3	http://purl.obolibrary.org/obo/MONDO_0011813	http://identifiers.org/mesh/C564590|https://omim.org/entry/607324|UMLS:C1846452	
MONDO:0011816	biolink:Disease	lathosterolosis	Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.	SCTID:719257008|Orphanet:46059|GARD:0009711|UMLS:C1846421|MESH:C537880|OMIM:607330	mondo.json	Sc5D deficiency|sterol C5-desaturase deficiency|lathosterolosis	http://purl.obolibrary.org/obo/MONDO_0011816	http://identifiers.org/mesh/C537880|http://identifiers.org/snomedct/719257008|Orphanet:46059|UMLS:C1846421|https://omim.org/entry/607330	ordo_disease|gard_rare
MONDO:0011815	biolink:Disease	hypertension, essential, susceptibility to, 3		UMLS:C1846430|OMIM:607329	mondo.json	hypertension, essential, susceptibility to, 3|hypertension, essential, susceptibility to, type 3|Hyt3	http://purl.obolibrary.org/obo/MONDO_0011815	UMLS:C1846430|https://omim.org/entry/607329	predisposition
MONDO:0011818	biolink:Disease	isolated focal cortical dysplasia type II		GARD:0010190|Orphanet:268994|OMIM:607341|MESH:C537067	mondo.json	focal cortical dysplasia of Taylor, type 2B|cortical dysplasia of Taylor with balloon cells|focal cortical dysplasia of Taylor, type 2A|focal cortical dysplasia, type 2|CDT|focal cortical dysplasia, type 2B|isolated focal cortical dysplasia type 2|focal cortical dysplasia, type II|focal cortical dysplasia, type 2A|cortical dysplasia of Taylor, dysplasia only|focal cortical dysplasia, type II, somatic|FCORD2|cortical dysplasia of Taylor without balloon cells|Fcd2|FCD type II|focal cortical dysplasia type 2|FCDT|FCD 2B|cortical dysplasia, Taylor type|focal cortical dysplasia of Taylor|focal cortical dysplasia type II|FCD 2A|cortical dysplasia of Taylor	http://purl.obolibrary.org/obo/MONDO_0011818	https://omim.org/entry/607341|http://identifiers.org/mesh/C537067|Orphanet:268994	gard_rare|ordo_clinical_subtype
MONDO:0011817	biolink:Disease	coronary heart disease, susceptibility to, 1	Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene.	OMIM:607339|UMLS:C1846418	mondo.json	coronary heart disease, susceptibility to, 1|coronary heart disease, susceptibility to|CX3CR1 coronary artery disease|coronary artery disease caused by mutation in CX3CR1|coronary artery disease, resistance to|coronary heart disease, susceptibility to, type 1|Chds1	http://purl.obolibrary.org/obo/MONDO_0011817	https://omim.org/entry/607339|UMLS:C1846418	predisposition
GO:0040019	biolink:NamedThing	positive regulation of embryonic development	Any process that activates or increases the frequency, rate or extent of embryonic development.		mondo.json	up regulation of embryonic development|activation of embryonic development|stimulation of embryonic development|upregulation of embryonic development|up-regulation of embryonic development	http://purl.obolibrary.org/obo/GO_0040019		
HGNC:3395	biolink:NamedThing	EPHB4			mondo.json		http://identifiers.org/hgnc/3395		
CL:0000990	biolink:Cell	conventional dendritic cell	Conventional dendritic cell is a dendritic cell that is CD11c-high.	FMA:84191	mondo.json	dendritic reticular cell|interdigitating cell|veiled cell|type 1 DC|DC1|cDC	http://purl.obolibrary.org/obo/CL_0000990		
HGNC:3393	biolink:NamedThing	EPHB2			mondo.json		http://identifiers.org/hgnc/3393		
MONDO:0011821	biolink:Disease	Meckel syndrome, type 3	Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene.	OMIM:607361|GARD:0008744|MESH:C536132|DOID:0070117|UMLS:C1846357	mondo.json	Meckel syndrome 3|Meckel syndrome type 3|Meckel syndrome caused by mutation in TMEM67|Meckel syndrome, type 3|MKS3|TMEM67 Meckel syndrome|Meckel-Gruber syndrome, type 3	http://purl.obolibrary.org/obo/MONDO_0011821	http://identifiers.org/mesh/C536132|DOID:0070117|https://omim.org/entry/607361|UMLS:C1846357	gard_rare
GO:0040016	biolink:NamedThing	embryonic cleavage	The first few specialized divisions of an activated animal egg.		mondo.json		http://purl.obolibrary.org/obo/GO_0040016		
CL:0000995	biolink:Cell	CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor			mondo.json	CD71-positive common myeloid precursor OR CD7-negative lymphoid precursor OR CD7-positive lymphoid	http://purl.obolibrary.org/obo/CL_0000995		
MONDO:0011820	biolink:Disease	scoliosis, isolated, susceptibility to, 2		OMIM:607354	mondo.json	IS2|scoliosis, isolated, susceptibility to, 2|scoliosis, idiopathic 2	http://purl.obolibrary.org/obo/MONDO_0011820	https://omim.org/entry/607354	predisposition
GO:0040017	biolink:NamedThing	positive regulation of locomotion	Any process that activates or increases the frequency, rate or extent of locomotion of a cell or organism.		mondo.json	up-regulation of locomotion|activation of locomotion|upregulation of locomotion|stimulation of locomotion|up regulation of locomotion	http://purl.obolibrary.org/obo/GO_0040017		
MONDO:0023873	biolink:Disease	obsolete Noonan-like/multiple giant cell lesion syndrome	OBSOLETE. Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) is a term used to describe a subgroup of people with Noonan syndrome who also have giant cell lesions (benign tumor-like lesions that most frequently occur in the jaws but may also affect other bones or soft tissues) and resemble individuals who have cherubism. Although NS/MGCLS was once believed to be a separate condition, it is now known to bepart of the Noonan syndrome spectrum. Mutations in the PTPN11 and SOS1 genes have been associated with NS/MGCLS; however, mutations in these genes do not always cause giant cell lesions. One family with NS/MGCLS has been found to have a mutation in the PTPN11 gene butno giant cell lesions, suggesting that other genetic factors may be involved in leading to giant cell development. Multiple giant cell lesions associated with NS may resolve after puberty with variable restoration of the facial structure.	OMIM:163955|GARD:0004006	mondo.json	NL/MGCLS	http://purl.obolibrary.org/obo/MONDO_0023873	https://omim.org/entry/163955	gard_rare
MONDO:0008239	biolink:Disease	phosphoglucomutase 4		OMIM:172110	mondo.json	phosphoglucomutase type 4|Pgm4|phosphoglucomutase 4|milk PGM	http://purl.obolibrary.org/obo/MONDO_0008239	https://omim.org/entry/172110	
NCBITaxon:5302	biolink:OrganismalEntity	Agaricomycotina		GC_ID:1	mondo.json	Hymenomycetes	http://purl.obolibrary.org/obo/NCBITaxon_5302		
MONDO:0011889	biolink:Disease	Charcot-Marie-Tooth disease type 2I	Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.	OMIM:607677|Orphanet:99942|SCTID:717013009|GARD:0009197|UMLS:C1837552|UMLS:CN207466|DOID:0110158	mondo.json	Charcot-Marie-Tooth neuropathy, type 2I|Charcot Marie Tooth disease type 2I|CMT2I|CMT 2I|autosomal dominant Charcot-Marie-Tooth disease type 2I|Charcot-Marie-Tooth neuropathy type 2I|Charcot-Marie-Tooth disease, type 2I|Charcot-Marie-Tooth disease, axonal, type 2I	http://purl.obolibrary.org/obo/MONDO_0011889	https://omim.org/entry/607677|Orphanet:99942|DOID:0110158|UMLS:CN207466|http://identifiers.org/snomedct/717013009	ordo_disease|gard_rare
MONDO:0021215	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0021215		
MONDO:0008237	biolink:Disease	phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome	Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.	GARD:0004323|Orphanet:2878|MESH:C537498|OMIM:171480|UMLS:C1868390	mondo.json	phocomelia-ectrodactyly, EAR malformation, deafness, and sinus arrhythmia|Stoll-LC)vy-Francfort syndrome|Stoll-levy-Francfort syndrome|facioauriculoradial dysplasia|phocomelia ectrodactyly deafness sinus arrhythmia|Stoll-Lévy-Francfort syndrome	http://purl.obolibrary.org/obo/MONDO_0008237	https://omim.org/entry/171480|Orphanet:2878|http://identifiers.org/mesh/C537498|UMLS:C1868390	ordo_malformation_syndrome
MONDO:0011888	biolink:Disease	immunodeficiency 67	An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.	MESH:C563662|GARD:0010311|MESH:C564352|UMLS:C1835828|Orphanet:70592|OMIM:607676|UMLS:C1843256	mondo.json	IRAK4D|IRAK-4 deficiency|Interleukin receptor-associated kinase deficiency|IRAK4 deficiency|invasive pneumococcal disease, recurrent isolated, type 1|invasive pneumococcal disease, protection against|IPD1|immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency|immunodeficiency 67|invasive pneumococcal disease, recurrent isolated, 1	http://purl.obolibrary.org/obo/MONDO_0011888	https://omim.org/entry/607676|UMLS:C1843256|http://identifiers.org/mesh/C564352|Orphanet:70592	ordo_disease
MONDO:0008238	biolink:Disease	phosphatase, acid, of tissues		OMIM:171660	mondo.json	Acp3--Alpha polypeptide|phosphatase, acid, of tissues|lysosomal acid phosphatase	http://purl.obolibrary.org/obo/MONDO_0008238	https://omim.org/entry/171660	
MONDO:0021214	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0021214		
MONDO:0008235	biolink:Disease	pheochromocytoma-islet cell tumor syndrome		MESH:C566807|GARD:0004321|OMIM:171420|UMLS:C1868392	mondo.json	pheochromocytoma and islet cell tumor of the pancreas|pheochromocytoma--islet cell tumor syndrome|pheochromocytoma-islet cell tumor syndrome	http://purl.obolibrary.org/obo/MONDO_0008235	https://omim.org/entry/171420|UMLS:C1868392|http://identifiers.org/mesh/C566807	gard_rare
MONDO:0021213	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0021213		
MONDO:0008236	biolink:Disease	phlebectasia of lips		MESH:C566806|OMIM:171450|UMLS:C1868391	mondo.json	phlebectasia of lips	http://purl.obolibrary.org/obo/MONDO_0008236	https://omim.org/entry/171450|UMLS:C1868391|http://identifiers.org/mesh/C566806	
MONDO:0008233	biolink:Disease	pheochromocytoma		OMIM:171300|DOID:0050771|ONCOTREE:PHC|MESH:D010673	mondo.json	pheochromocytoma|phaeochromocytoma|pheochromocytoma, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0008233	http://identifiers.org/mesh/D010673|https://omim.org/entry/171300|DOID:0050771	
MONDO:0021211	biolink:Disease	brain neoplasm	A neoplasm (disease) that involves the brain.	NCIT:C2907	mondo.json	tumor of brain|neoplasm of the brain|brain neoplasms|neoplasm of brain|brain tumor|tumor of the Brain|brain neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0021211	NCIT:C2907	
MONDO:0021210	biolink:Disease	trachea neoplasm	A neoplasm (disease) that involves the trachea.	EFO:1001437|MESH:D014134|GTR:AN0481062|UMLS:C0040582|NCIT:C3419|GTR:AN0505660|HP:0100551	mondo.json	neoplasm of the trachea|tumor of trachea|tracheal neoplasm|neoplasm of trachea|tumor of the trachea|trachea neoplasm (disease)|trachea tumor|tracheal tumor	http://purl.obolibrary.org/obo/MONDO_0021210	NCIT:C3419|http://identifiers.org/mesh/D014134|UMLS:C0040582	
MONDO:0008234	biolink:Disease	multiple endocrine neoplasia type 2A	Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells.	DOID:0050430|OMIM:171400|GARD:0004881|NCIT:C3226|UMLS:C1833921|ICD9:258.02|SCTID:721188000|MESH:D018813|UMLS:C0025268|Orphanet:247698	mondo.json	multiple endocrine neoplasia, type II|ptc syndrome|multiple endocrine adenomatosis, type II|multiple endocrine adenomatosis type II|thyroid carcinoma, familial medullary|men-2A syndrome|multiple endocrine adenomatosis type 2A|multiple endocrine adenomatosis type 2a|multiple endocrine neoplasia type II|multiple endocrine neoplasia type 2A|Sipple syndrome|MEA type II|multiple endocrine neoplasia IIA|multiple endocrine neoplasia II|MEA type 2a|pheochromocytoma and amyloid-producing medullary thyroid carcinoma|pheochromocytoma and amyloid producing medullary thyroid carcinoma|men type II|multiple endocrine neoplasia, type 2A|MEN2A|men type 2a|multiple endocrine neoplasia, type IIA|men 2A	http://purl.obolibrary.org/obo/MONDO_0008234	http://identifiers.org/snomedct/721188000|Orphanet:247698|http://identifiers.org/mesh/D018813|https://omim.org/entry/171400|NCIT:C3226|UMLS:C0025268|DOID:0050430	ordo_clinical_subtype|gard_rare
MONDO:0008231	biolink:Disease	Peyronie disease	A condition characterized by hardening of the penis due to the formation of fibrous plaques on the dorsolateral aspect of the penis, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both.	Orphanet:2870|UMLS:C0030848|NCIT:C3316|ICD9:607.85|DOID:8616|OMIM:171000	mondo.json	Peyronie's fibromatosis|Induratio penis plastica|Peyronie's disease|Peyronie disease	http://purl.obolibrary.org/obo/MONDO_0008231	https://omim.org/entry/171000|DOID:8616|Orphanet:2870|UMLS:C0030848	
MONDO:0008232	biolink:Disease	phagocytosis, plasma-related defect 1N		MESH:C566808|OMIM:171100|UMLS:C1868402	mondo.json	phagocytosis, plasma-RELATED defect IN|phagocytosis, plasma-related defect type 1N	http://purl.obolibrary.org/obo/MONDO_0008232	https://omim.org/entry/171100|UMLS:C1868402|http://identifiers.org/mesh/C566808	
GO:0040020	biolink:NamedThing	regulation of meiotic nuclear division	Any process that modulates the frequency, rate or extent of meiotic nuclear division, the process in which the nucleus of a diploid cell divides twice forming four haploid cells, one or more of which usually function as gametes.		mondo.json	regulation of meiosis	http://purl.obolibrary.org/obo/GO_0040020		
MONDO:0011892	biolink:Disease	epilepsy, idiopathic generalized, susceptibility to, 9	Any generalised epilepsy in which the cause of the disease is a mutation in the CACNB4 gene.	DOID:0111323|OMIM:607682	mondo.json	EIG9|epilepsy, idiopathic generalized, susceptibility to, type 9|susceptibility to idiopathic generalized epilepsy 9|CACNB4 generalised epilepsy|epilepsy, juvenile myoclonic, susceptibility to, 6|epilepsy, idiopathic generalized, susceptibility to, 9|generalised epilepsy caused by mutation in CACNB4	http://purl.obolibrary.org/obo/MONDO_0011892	DOID:0111323|https://omim.org/entry/607682	predisposition
MONDO:0011891	biolink:Disease	febrile seizures, familial, 8	A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype.	UMLS:C1843244|OMIM:611277|UMLS:C1858674|DOID:0111298|OMIM:607681|MESH:C565811	mondo.json	GEFSP3|childhood absence epilepsy caused by mutation in GABRG2|epilepsy, childhood absence, susceptibility to, 2|GABRG2 childhood absence epilepsy|epilepsy, childhood absence, susceptibility to, type 2|susceptibility to childhood absence epilepsy 2|generalized epilepsy with febrile seizures plus caused by mutation in GABRG2|GABRG2 generalized epilepsy with febrile seizures plus|Gefs+, type 3|ECA2|generalized epilepsy with febrile seizures plus, type 3	http://purl.obolibrary.org/obo/MONDO_0011891	UMLS:C1858674|UMLS:C1843244|DOID:0111298|http://identifiers.org/mesh/C565811|https://omim.org/entry/607681	predisposition
MONDO:0008230	biolink:Disease	peroxidase, salivary		OMIM:170990	mondo.json	SAPX|peroxidase, salivary	http://purl.obolibrary.org/obo/MONDO_0008230	https://omim.org/entry/170990	
MONDO:0011894	biolink:Disease	Charcot-Marie-Tooth disease type 2E	Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.	Orphanet:99939|OMIM:607684|SCTID:717012004|GARD:0009193|MESH:C537994|NCIT:C134953|DOID:0110165	mondo.json	Charcot-Marie-Tooth disease, type 2E|CMT 2E|Charcot Marie Tooth disease type 2E|Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL|Charcot-Marie-Tooth disease, axonal, type 2E|Charcot-Marie-Tooth neuropathy type 2E|CMT2E|autosomal dominant Charcot-Marie-Tooth disease type 2E|Charcot-Marie-Tooth neuropathy, type 2E|NEFL Charcot-Marie-Tooth disease type 2	http://purl.obolibrary.org/obo/MONDO_0011894	https://omim.org/entry/607684|NCIT:C134953|Orphanet:99939|http://identifiers.org/mesh/C537994|DOID:0110165|http://identifiers.org/snomedct/717012004	gard_rare|ordo_disease
MONDO:0011893	biolink:Disease	autosomal dominant nonsyndromic hearing loss 52	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32.	MESH:C564348|UMLS:C1843232|DOID:0110578|OMIM:607683	mondo.json	DFNA52|deafness, autosomal dominant 52|autosomal dominant nonsyndromic deafness type 52|autosomal dominant nonsyndromic deafness 52|autosomal dominant deafness 52|deafness, autosomal dominant 42	http://purl.obolibrary.org/obo/MONDO_0011893	https://omim.org/entry/607683|UMLS:C1843232|http://identifiers.org/mesh/C564348|DOID:0110578	
MONDO:0021209	biolink:Disease	heart neoplasm	A neoplasm (disease) that involves the heart.	NCIT:C3081|GARD:0002619|EFO:1001339	mondo.json	primary cardiac tumors, childhood|heart neoplasm (disease)|Cardiac neoplasms|neoplasm of the heart|tumor of heart|myocardial tumors (rhabdomyomas and fibromas)|neoplasm of heart|tumor of the heart|heart tumor|Intracavitary tumors|Cardiac neoplasm|Cardiac tumor	http://purl.obolibrary.org/obo/MONDO_0021209	NCIT:C3081	gard_rare
MONDO:0021208	biolink:Disease	endocrine alopecia		SCTID:54539003|UMLS:C0002176|ICD9:704.09	mondo.json		http://purl.obolibrary.org/obo/MONDO_0021208	http://identifiers.org/snomedct/54539003|UMLS:C0002176	
MONDO:0011896	biolink:Disease	Parkinson disease 11, autosomal dominant, susceptibility to	Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the GIGYF2 gene.	MESH:C564345|OMIM:607688|UMLS:C1843211	mondo.json	Parkinson disease 11, autosomal dominant, susceptibility to|PARK11|GIGYF2 hereditary late onset Parkinson disease|Parkinson disease 11|susceptibility to autosomal dominant Parkinson disease 11|hereditary late onset Parkinson disease caused by mutation in GIGYF2	http://purl.obolibrary.org/obo/MONDO_0011896	https://omim.org/entry/607688|UMLS:C1843211|http://identifiers.org/mesh/C564345	predisposition
MONDO:0011895	biolink:Disease	idiopathic hypereosinophilic syndrome		UMLS:C0206141|OMIM:607685|SCTID:423294001|Orphanet:3260	mondo.json	hypereosinophilic syndrome, idiopathic, resistant to imatinib, isolated cases, somatic mutation|hypereosinophilic syndrome, idiopathic|HES	http://purl.obolibrary.org/obo/MONDO_0011895	http://identifiers.org/snomedct/423294001|https://omim.org/entry/607685|UMLS:C0206141|Orphanet:3260	ordo_disease
MONDO:0021207	biolink:Disease	Crohn jejunitis	An Crohn disease involving a pathogenic inflammatory response in the jejunum.	SCTID:91390005|UMLS:C0267379	mondo.json		http://purl.obolibrary.org/obo/MONDO_0021207	http://identifiers.org/snomedct/91390005|UMLS:C0267379	
MONDO:0021206	biolink:Disease	chronic non-suppurative otitis media	Chronic form of non-suppurative otitis media.	SCTID:232254004|UMLS:C0395869|ICD9:381.3	mondo.json	non-suppurative otitis media, chronic	http://purl.obolibrary.org/obo/MONDO_0021206	UMLS:C0395869|http://identifiers.org/snomedct/232254004	
CL:0000961	biolink:Cell	Bm1 B cell	A follicular B cell that is IgD-positive, CD23-negative, and CD38-negative. This naive cell type is activated in the extrafollicular areas through interaction with interdigitating dendritic cells and antigen-specific CD4-positive T cells.		mondo.json	Bm1 B-lymphocyte|Bm1 B-cell|Bm1 B lymphocyte	http://purl.obolibrary.org/obo/CL_0000961		
MONDO:0011898	biolink:Disease	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive		OMIM:607706|UMLS:C1843183	mondo.json	Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive|CMT2 with vocal cord paresis, autosomal recessive|Charcot-Marie-Tooth disease, type 4A, axonal form|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0011898	https://omim.org/entry/607706|UMLS:C1843183	
MONDO:0011897	biolink:Disease	leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	A syndrome is characterised by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described.	Orphanet:447896|SCTID:721846006|Orphanet:447893|Orphanet:77295|Orphanet:88637|DOID:0060794|OMIM:607694|Orphanet:137639	mondo.json	hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome|leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome|dentoleukoencephalopathy|HLD7|ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy|leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|ataxia, delayed dentition, and hypomyelination|4H syndrome|leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism|hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism|ataxia-delayed dentition-hypomyelination syndrome|hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome|leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition	http://purl.obolibrary.org/obo/MONDO_0011897	https://omim.org/entry/607694|Orphanet:137639|http://identifiers.org/snomedct/721846006|DOID:0060794	ordo_disease
MONDO:0021205	biolink:Disease	disorder of ear	A disease that involves the ear.	UMLS:C0013447|SCTID:25906001|ICD9:388.8|NCIT:C26757|ICD9:388.9	mondo.json	Ear disease|ear disease|disease or disorder of ear|Ear disorder|disease of ear|ear disease or disorder|disorder of ear	http://purl.obolibrary.org/obo/MONDO_0021205	NCIT:C26757|http://identifiers.org/snomedct/25906001|UMLS:C0013447	
CL:0000962	biolink:Cell	Bm2 B cell	A follicular B cell that is IgD-positive and CD23-positive and CD38-positive. This naive cell type is activated in the extrafollicular areas via interaction with dendritic cells and antigen specific T cells.		mondo.json	Bm2 B-cell|Bm2 B lymphocyte|Bm2 B-lymphocyte	http://purl.obolibrary.org/obo/CL_0000962		
MONDO:0023868	biolink:Disease	melanoma associated retinopathy	Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision.	UMLS:C0730308|GARD:0012041|SCTID:312941005	mondo.json	Melanoma-associated retinopathy|Retinopathies, Melanoma-Associated|Retinopathy, Melanoma-Associated|Melanoma Associated Retinopathy|Melanoma-Associated Retinopathy|Melanoma-Associated Retinopathies|Melanoma associated retinopathy	http://purl.obolibrary.org/obo/MONDO_0023868	UMLS:C0730308|http://identifiers.org/snomedct/312941005	gard_rare
MONDO:0011890	biolink:Disease	Charcot-Marie-Tooth disease type 1D	A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.	OMIM:607678|DOID:0110150|MESH:C537985|SCTID:719979008|UMLS:C1843247|GARD:0009189|Orphanet:101084	mondo.json	Charcot-Marie-Tooth neuropathy type 1D|Charcot-Marie-Tooth disease, demyelinating, type 1D|Charcot-Marie-Tooth neuropathy, type 1D|EGR2 Charcot-Marie-Tooth disease type 1|hereditary motor and sensory neuropathy 1D|HMSN 1D|CMT1D|Charcot Marie Tooth disease type 1D|CMT 1D|Charcot-Marie-Tooth disease, type 1D|Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2|HMSN1D|HMSN ID	http://purl.obolibrary.org/obo/MONDO_0011890	UMLS:C1843247|http://identifiers.org/mesh/C537985|DOID:0110150|http://identifiers.org/snomedct/719979008|Orphanet:101084|https://omim.org/entry/607678	ordo_disease|gard_rare
MONDO:0023865	biolink:Disease	corneal infection	A viral or bacterial infectious process affecting the cornea. Symptoms include pain and redness in the eye, photophobia and eye watering.	Orphanet:519278|NCIT:C83813|UMLS:C0729777|SCTID:312428002	mondo.json	infective keratitis|infection of cornea|keratitis caused by infection|corneal infection	http://purl.obolibrary.org/obo/MONDO_0023865	NCIT:C83813|http://identifiers.org/snomedct/312428002|Orphanet:519278|UMLS:C0729777	ordo_group_of_disorders|disease_grouping
MONDO:0008248	biolink:Disease	pigmented purpuric eruption		UMLS:C0406515|SCTID:20343006|MESH:C537186|GARD:0007609|OMIM:172900	mondo.json	Schamberg disease|progressive pigmented purpura|pigmented purpuric eruption|pigmented purpuric dermatosis|Schamberg purpura|familial pigmented purpuric eruption|pigmented purpura	http://purl.obolibrary.org/obo/MONDO_0008248	http://identifiers.org/snomedct/20343006|https://omim.org/entry/172900|http://identifiers.org/mesh/C537186|UMLS:C0406515	
MONDO:0011878	biolink:Disease	obsolete Worth syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0011878		
MONDO:0021204	biolink:Disease	chronic otitis media	Chronic form of otitis media (disease).	UMLS:C0271441|ICD9:381.3|SCTID:21186006	mondo.json	otitis media (disease), chronic|chronic otitis media (disease)	http://purl.obolibrary.org/obo/MONDO_0021204	http://identifiers.org/snomedct/21186006|UMLS:C0271441	
MONDO:0011877	biolink:Disease	autosomal dominant osteopetrosis 1	Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.	Orphanet:2783|UMLS:C1843330|GARD:0004151|DOID:0110937|OMIM:607634|MESH:C536056	mondo.json	osteopetrosis, autosomal dominant 1|autosomal dominant osteopetrosis type 1|osteopetrosis autosomal dominant type 1|osteopetrosis (disease) caused by mutation in LRP5|osteopetrosis, autosomal dominant type 1|LRP5 osteopetrosis (disease)|osteopetrosis, autosomal dominant, type 1|OPTA1	http://purl.obolibrary.org/obo/MONDO_0011877	https://omim.org/entry/607634|Orphanet:2783|http://identifiers.org/mesh/C536056|UMLS:C1843330|DOID:0110937	ordo_malformation_syndrome
MONDO:0021203	biolink:Disease	serous otitis media		SCTID:80327007	mondo.json	otitis media with effusion|secretory otitis media|SOM	http://purl.obolibrary.org/obo/MONDO_0021203	http://identifiers.org/snomedct/80327007	
MONDO:0008249	biolink:Disease	pilonidal sinus	A hair-containing cyst or sinus, occurring chiefly in the coccygeal region.	MESH:D010864|OMIM:173000|SCTID:47639008|HP:0010769	mondo.json	pilonidal sinus|pilonidal sinus (disease)	http://purl.obolibrary.org/obo/MONDO_0008249	https://omim.org/entry/173000|http://identifiers.org/mesh/D010864|http://identifiers.org/snomedct/47639008	
MONDO:0008246	biolink:Disease	pigmented paravenous retinochoroidal atrophy	Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision.	SCTID:723450004|ICD10CM:H35.5|DOID:0111541|OMIM:172870|MESH:C566801|UMLS:C1868310|Orphanet:251295	mondo.json	PPRCA|pigmented paravenous chorioretinal atrophy|PPCRA	http://purl.obolibrary.org/obo/MONDO_0008246	Orphanet:251295|http://identifiers.org/snomedct/723450004|https://omim.org/entry/172870|UMLS:C1868310|http://identifiers.org/mesh/C566801|DOID:0111541	ordo_disease
MONDO:0021202	biolink:Disease	allergic otitis media	A otitis media (disease) with a basis in a pathological type I hypersensitivity reaction.	SCTID:26169004|UMLS:C0271447	mondo.json	allergic form of otitis media (disease)|allergic otitis media (disease)	http://purl.obolibrary.org/obo/MONDO_0021202	UMLS:C0271447|http://identifiers.org/snomedct/26169004	
GO:0042697	biolink:NamedThing	menopause	Cessation of menstruation, occurring in (e.g.) the human female usually around the age of 50.		mondo.json		http://purl.obolibrary.org/obo/GO_0042697		
MONDO:0021201	biolink:Disease	skin infection	An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm.	UMLS:C0037278|NCIT:C35025|SCTID:19824006	mondo.json	skin infection	http://purl.obolibrary.org/obo/MONDO_0021201	NCIT:C35025|UMLS:C0037278|http://identifiers.org/snomedct/19824006	
MONDO:0008247	biolink:Disease	robin sequence-oligodactyly syndrome	Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.	OMIM:172880|GARD:0004729|Orphanet:3104|UMLS:C1868309|MESH:C535688	mondo.json	Pierre Robin sequence-oligodactyly syndrome|Robin sequence and oligodactyly|Pierre Robin syndrome and oligodactyly	http://purl.obolibrary.org/obo/MONDO_0008247	http://identifiers.org/mesh/C535688|https://omim.org/entry/172880|Orphanet:3104|UMLS:C1868309	ordo_malformation_syndrome
MONDO:0011879	biolink:Disease	neuronopathy, distal hereditary motor, type 7B	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene.	DOID:0111202|OMIM:607641|UMLS:C1843315|MESH:C564362	mondo.json	neuronopathy, distal hereditary motor, type VIIB|DCTN1 neuronopathy, distal hereditary motor|HMN7B|HMN 7B|neuronopathy, distal hereditary motor caused by mutation in DCTN1|Dhmn7B|Lower motor neuron disease, dynactin type|neuropathy, distal hereditary motor, with vocal cord paralysis, type 7B|neuropathy, distal hereditary motor, type 7B	http://purl.obolibrary.org/obo/MONDO_0011879	https://omim.org/entry/607641|DOID:0111202|UMLS:C1843315|http://identifiers.org/mesh/C564362	
MONDO:0008244	biolink:Disease	piebaldism	Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.	OMIM:172800|GARD:0004344|Orphanet:2884|DOID:3263|ICD9:270.2|SCTID:6479008|ICD10CM:E70.3|UMLS:C0080024|MESH:D016116|NCIT:C85009	mondo.json	partial albinism|PBT|piebald trait|piebaldism	http://purl.obolibrary.org/obo/MONDO_0008244	UMLS:C0080024|http://identifiers.org/mesh/D016116|https://omim.org/entry/172800|Orphanet:2884|http://identifiers.org/snomedct/6479008|DOID:3263|NCIT:C85009	gard_rare|ordo_disease
MONDO:0021200	biolink:Disease	obsolete rare disease	OBSOLETE. Any of the forms of disease that have a rare incidence.	NCIT:C4873|MESH:D035583	mondo.json	rare disorder|rare disease|rare disease or disorder|rare diseases	http://purl.obolibrary.org/obo/MONDO_0021200	NCIT:C4873|http://identifiers.org/mesh/D035583	obsoletion_candidate
CL:0000979	biolink:Cell	IgG memory B cell	An IgG memory B cell is a class switched memory B cell that is class switched and expresses IgG on the cell surface.		mondo.json	memory IgG B cell|IgG memory B-cell|IgG memory B lymphocyte|memory IgG B-cell|memory IgG B lymphocyte|IgG memory B-lymphocyte|memory IgG B-lymphocyte	http://purl.obolibrary.org/obo/CL_0000979		
MONDO:0008245	biolink:Disease	piebald trait-neurologic defects syndrome	Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.	OMIM:172850|GARD:0005133|UMLS:C1868311|MESH:C536955|Orphanet:2885	mondo.json	telfer-Sugar-Jaeger syndrome|telfer Sugar Jaeger syndrome|piebald trait neurologic defects|White forelock and leukoderma with neurological impairment|piebald trait with neurologic defects	http://purl.obolibrary.org/obo/MONDO_0008245	https://omim.org/entry/172850|Orphanet:2885|UMLS:C1868311|http://identifiers.org/mesh/C536955	ordo_malformation_syndrome
MONDO:0008242	biolink:Disease	photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction		MESH:C538113|GARD:0009267|ICD9:583.9|UMLS:C1809475|SCTID:237612000|OMIM:172500	mondo.json	photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction|Herrmann syndrome|hereditary photomyoclonus associated with diabetes mellitus, deafness, nephropathy, and cerebral dysfunction	http://purl.obolibrary.org/obo/MONDO_0008242	http://identifiers.org/snomedct/237612000|https://omim.org/entry/172500|http://identifiers.org/mesh/C538113|UMLS:C1809475	
GO:0042692	biolink:NamedThing	muscle cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a muscle cell.		mondo.json	myogenesis	http://purl.obolibrary.org/obo/GO_0042692		
MONDO:0008243	biolink:Disease	Pick disease	A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies.	EFO:0003096|ICD10CM:G31.01|DOID:11870|UMLS:C0236642|OMIM:172700|NCIT:C85008|GARD:0007392|MESH:D020774|SCTID:13092008|ICD9:331.11	mondo.json	Pick's disease|Pick disease of the brain|PICK disease of brain|lobar atrophy of the brain|dementia with lobar atrophy and neuronal cytoplasmic inclusions|Pick disease|lobar atrophy of brain|dementia in Pick's disease	http://purl.obolibrary.org/obo/MONDO_0008243	https://omim.org/entry/172700|DOID:11870|http://purl.bioontology.org/ontology/ICD10CM/G31.01|http://identifiers.org/mesh/D020774|http://identifiers.org/snomedct/13092008|UMLS:C0236642|NCIT:C85008	
MONDO:0011881	biolink:Disease	keratosis palmoplantaris striata 3	Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene.	GARD:0009173|UMLS:C2931123|OMIM:607654|MESH:C536163	mondo.json	keratoderma, palmoplantar, striate form 3|KRT1 striate palmoplantar keratoderma|keratosis palmoplantaris striata type 3|PPKS3|striate palmoplantar keratoderma caused by mutation in KRT1|keratoderma palmoplantar striate form 3|striate palmoplantar keratoderma 3|keratosis palmoplantaris striata III	http://purl.obolibrary.org/obo/MONDO_0011881	https://omim.org/entry/607654|http://identifiers.org/mesh/C536163|UMLS:C2931123	gard_rare
MONDO:0008240	biolink:Disease	6-phosphogluconolactonase deficiency		MESH:C566803|OMIM:172150|UMLS:C1868355	mondo.json	Pgls deficiency|6Pgl deficiency|6-phosphogluconolactonase deficiency	http://purl.obolibrary.org/obo/MONDO_0008240	UMLS:C1868355|http://identifiers.org/mesh/C566803|https://omim.org/entry/172150	
MONDO:0011880	biolink:Disease	candidiasis, familial, 3		UMLS:C1843306|OMIM:607644|MESH:C564361	mondo.json	candidiasis, familial, 3|Fcnc|CANDF3|candidiasis, familial chronic nail, with Icam1 deficiency	http://purl.obolibrary.org/obo/MONDO_0011880	https://omim.org/entry/607644|UMLS:C1843306|http://identifiers.org/mesh/C564361	
MONDO:0008241	biolink:Disease	phosphoglycoprotein 1		OMIM:172290	mondo.json	phosphoglycoprotein 1|PGP1|phosphoglycoprotein type 1	http://purl.obolibrary.org/obo/MONDO_0008241	https://omim.org/entry/172290	
MONDO:0011883	biolink:Disease	Curly hair - acral keratoderma - caries syndrome	Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.	OMIM:607656|GARD:0010163|MESH:C536220|Orphanet:307766	mondo.json	CHACS|Chac syndrome|Curly hair - acral keratoderma - caries syndrome|Chacs	http://purl.obolibrary.org/obo/MONDO_0011883	Orphanet:307766|https://omim.org/entry/607656|http://identifiers.org/mesh/C536220	gard_rare|ordo_disease
MONDO:0011882	biolink:Disease	skin fragility-woolly hair-palmoplantar keratoderma syndrome		MESH:C564359|UMLS:C1843292|Orphanet:293165|OMIM:607655|GARD:0005231	mondo.json	skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome|SFWHS|skin fragility-woolly hair syndrome|skin fragility woolly hair syndrome	http://purl.obolibrary.org/obo/MONDO_0011882	https://omim.org/entry/607655|UMLS:C1843292|http://identifiers.org/mesh/C564359|Orphanet:293165	ordo_disease|gard_rare
MONDO:0011885	biolink:Disease	tubulointerstitial nephritis and uveitis syndrome	An autoimmune disorder comprising tubulointerstitial nephritis and uveitis.	Orphanet:91500|GARD:0009252|MedDRA:10069039|MESH:C536922|NCIT:C123021|MedDRA:10069034|OMIM:607665|UMLS:C1843273|ICD10CM:N10	mondo.json	Tubulointerstitial nephritis and uveitis|acute Tubulointerstitial nephritis|acute tubulointerstitial nephritis and uveitis syndrome|TINU|TINU syndrome|TUBULOINTERSTITIAL nephritis with uveitis|Dobrin syndrome	http://purl.obolibrary.org/obo/MONDO_0011885	https://omim.org/entry/607665|Orphanet:91500|UMLS:C1843273|http://identifiers.org/mesh/C536922|NCIT:C123021	ordo_disease
CL:0000970	biolink:Cell	unswitched memory B cell	An unswitched memory B cell is a memory B cell that has the phenotype IgM-positive, IgD-positive, CD27-positive, CD138-negative, IgG-negative, IgE-negative, and IgA-negative.		mondo.json	unswitched memory B-cell|unswitched memory B lymphocyte|non-class-switched memory B cell|unswitched memory B-lymphocyte|IgD+ memory B cell	http://purl.obolibrary.org/obo/CL_0000970		
MONDO:0011884	biolink:Disease	hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.	UMLS:C1843285|MESH:C564357|SCTID:763658004|OMIM:607658|Orphanet:307936	mondo.json	hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome|Hopp syndrome|hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome|hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome|hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome|HOPP syndrome	http://purl.obolibrary.org/obo/MONDO_0011884	Orphanet:307936|https://omim.org/entry/607658|UMLS:C1843285|http://identifiers.org/mesh/C564357|http://identifiers.org/snomedct/763658004	ordo_disease
CL:0000971	biolink:Cell	IgM memory B cell	An IgM memory B cell is an unswitched memory B cell with the phenotype IgM-positive and IgD-negative.		mondo.json	memory IgM B cell|memory IgM B-cell|memory IgM B lymphocyte|IgM memory B-cell|IgM memory B lymphocyte|memory IgM B-lymphocyte|IgM memory B-lymphocyte	http://purl.obolibrary.org/obo/CL_0000971		
GO:0042698	biolink:NamedThing	ovulation cycle	The type of sexual cycle seen in females, often with physiologic changes in the endometrium that recur at regular intervals during the reproductive years.		mondo.json		http://purl.obolibrary.org/obo/GO_0042698		
MONDO:0011887	biolink:Disease	cataract, congenital, with mental impairment and dentate gyrus atrophy		OMIM:607674|UMLS:C1843257|MESH:C564353	mondo.json	cataract, congenital, with mental impairment and dentate gyrus atrophy	http://purl.obolibrary.org/obo/MONDO_0011887	https://omim.org/entry/607674|UMLS:C1843257|http://identifiers.org/mesh/C564353	
CL:0000972	biolink:Cell	class switched memory B cell	A class switched memory B cell is a memory B cell that has undergone Ig class switching and therefore is IgM-negative on the cell surface. These cells are CD27-positive and have either IgG, IgE, or IgA on the cell surface.		mondo.json	class switched memory B-lymphocyte|class switched memory B-cell|class switched memory B lymphocyte	http://purl.obolibrary.org/obo/CL_0000972		
MONDO:0011886	biolink:Disease	torsion dystonia 13	DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement.	DOID:0090037|SCTID:719278006|MESH:C564354|OMIM:607671|Orphanet:98807	mondo.json	dystonia 13, torsion, autosomal dominant|primary dystonia with mixed phenotype|torsion dystonia type 13|DYT13|primary torsion dystonia with predominant craniocervical or upper limb onset|primary dystonia, DYT13 type	http://purl.obolibrary.org/obo/MONDO_0011886	http://identifiers.org/snomedct/719278006|https://omim.org/entry/607671|Orphanet:98807|DOID:0090037|http://identifiers.org/mesh/C564354	ordo_disease
CL:0000973	biolink:Cell	IgA memory B cell	A class switched memory B cell that expresses IgA.		mondo.json	IgA memory B-cell|IgA memory B lymphocyte|memory IgA B cell|IgA memory B-lymphocyte|memory IgA B-cell|memory IgA B lymphocyte|memory IgA B-lymphocyte	http://purl.obolibrary.org/obo/CL_0000973		
MONDO:0008219	biolink:Disease	pemphigus vulgaris	Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which pemphigus vulgaris is the most frequent (75%).	GARD:0004270|ICD10CM:L10.0|DOID:0060851|MESH:C536645|MedDRA:10052802|Orphanet:704|EFO:0004719|OMIM:169610|GARD:0007355|SCTID:49420001|NCIT:C34910|UMLS:C0030809	mondo.json	pemphigus vulgaris, familial|familial pemphigus vulgaris	http://purl.obolibrary.org/obo/MONDO_0008219	http://identifiers.org/snomedct/49420001|UMLS:C0030809|NCIT:C34910|http://identifiers.org/mesh/C536645|Orphanet:704|https://omim.org/entry/169610|DOID:0060851|http://purl.bioontology.org/ontology/ICD10CM/L10.0	ordo_disease|gard_rare
CL:1000718	biolink:Cell	kidney inner medulla collecting duct principal cell		KUPO:0001134	mondo.json		http://purl.obolibrary.org/obo/CL_1000718		
MONDO:0008217	biolink:Disease	pelvis-shoulder dysplasia	Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.	OMIM:169550|SCTID:719298001|UMLS:C1868508|Orphanet:2839|MESH:C566811	mondo.json	Scapuloiliac dysostosis|Kosenow syndrome|pelvis-shoulder dysplasia	http://purl.obolibrary.org/obo/MONDO_0008217	Orphanet:2839|UMLS:C1868508|http://identifiers.org/mesh/C566811|http://identifiers.org/snomedct/719298001|https://omim.org/entry/169550	ordo_malformation_syndrome
MONDO:0008218	biolink:Disease	Hailey-Hailey disease	Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).	MESH:D016506|GARD:0006559|OMIM:169600|SCTID:79468000|UMLS:C0085106|NCIT:C82865|Orphanet:2841|DOID:0050429	mondo.json	benign chronic familial pemphigus of Hailey-Hailey|familial benign chronic pemphigus|benign familial pemphigus|benign chronic pemphigus|familial benign pemphigus|BCPM|Hailey-Hailey disease|pemphigus, benign familial	http://purl.obolibrary.org/obo/MONDO_0008218	NCIT:C82865|Orphanet:2841|http://identifiers.org/snomedct/79468000|DOID:0050429|https://omim.org/entry/169600|http://identifiers.org/mesh/D016506|UMLS:C0085106	ordo_disease|gard_rare
MONDO:0011867	biolink:Disease	microphthalmia with cyst, bilateral facial clefts, and limb anomalies		UMLS:C1843492|MESH:C564370|OMIM:607597	mondo.json	microphthalmia with cyst, bilateral facial clefts, and limb anomalies	http://purl.obolibrary.org/obo/MONDO_0011867	https://omim.org/entry/607597|UMLS:C1843492|http://identifiers.org/mesh/C564370	
CL:1000716	biolink:Cell	kidney outer medulla collecting duct principal cell		KUPO:0001132	mondo.json		http://purl.obolibrary.org/obo/CL_1000716		
MONDO:0008215	biolink:Disease	adult-onset autosomal dominant demyelinating leukodystrophy	Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment.	GARD:0010587|DOID:0060785|DECIPHER:59|SCTID:448054001|OMIM:169500|MESH:C566813|Orphanet:99027	mondo.json	Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type, formerly|leukodystrophy, demyelinating, ADULT-onset, autosomal dominant|Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type|ADLD|autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease|autosomal dominant adult-onset demyelinating leukodystrophy|multiple sclerosis-like disorder|leukodystrophy, adult-onset, autosomal dominant|adult-onset autosomal dominant leukodystrophy|adult-onset autosomal dominant demyelinating leukodystrophy|autosomal dominant leukodystrophy with autonomic disease	http://purl.obolibrary.org/obo/MONDO_0008215	http://identifiers.org/mesh/C566813|https://omim.org/entry/169500|DOID:0060785|http://identifiers.org/snomedct/448054001|Orphanet:99027	ordo_disease
CL:0000941	biolink:Cell	thymic conventional dendritic cell	A dendritic cell arising in thymus that has the phenotype CD11c-positive, CD11b-negative, and CD45RA-negative.		mondo.json		http://purl.obolibrary.org/obo/CL_0000941		
MONDO:0008216	biolink:Disease	pelvic lipomatosis with crossed renal ectopia		UMLS:C1868511|OMIM:169545|MESH:C566812	mondo.json	pelvic lipomatosis with crossed renal ectopia	http://purl.obolibrary.org/obo/MONDO_0008216	http://identifiers.org/mesh/C566812|UMLS:C1868511|https://omim.org/entry/169545	
MONDO:0011866	biolink:Disease	pontocerebellar hypoplasia type 1A	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene.	OMIM:607596|DOID:0060265	mondo.json	pontocerebellar hypoplasia, type 1A|non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1|PCH1A|pontocerebellar hypoplasia with infantile spinal muscular atrophy|pontocerebellar hypoplasia with anterior horn cell disease|VRK1 non-syndromic pontocerebellar hypoplasia|Pch1	http://purl.obolibrary.org/obo/MONDO_0011866	https://omim.org/entry/607596|DOID:0060265	
MONDO:0008213	biolink:Disease	pectus excavatum	A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax.	OMIM:169300|HP:0000767|ICD9:754.81|MESH:D005660|SCTID:391987005	mondo.json	pectus excavatum|funnel chest|pectus excavatum (disease)	http://purl.obolibrary.org/obo/MONDO_0008213	http://identifiers.org/snomedct/391987005|https://omim.org/entry/169300|http://identifiers.org/mesh/D005660	
MONDO:0011869	biolink:Disease	epidermolysis bullosa simplex superficialis	Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters.	OMIM:607600|UMLS:C1843477|MESH:C564368|Orphanet:89839	mondo.json	EBSS|epidermolysis bullosa simplex superficialis	http://purl.obolibrary.org/obo/MONDO_0011869	Orphanet:89839|https://omim.org/entry/607600|UMLS:C1843477|http://identifiers.org/mesh/C564368	ordo_disease
CL:1000714	biolink:Cell	kidney cortex collecting duct principal cell		KUPO:0001130	mondo.json		http://purl.obolibrary.org/obo/CL_1000714		
MONDO:0008214	biolink:Disease	Pelger-Huet anomaly	An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.	OMIM:169400|NCIT:C85002|SCTID:85559002|GARD:0009148|EFO:1001093|DOID:9631|UMLS:C0030779|MESH:D010381|MedDRA:10029377	mondo.json	Pelger Huet anomaly|ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities|Pelger-Huet nuclear anomaly|Pelger-Huet anomaly|PHA	http://purl.obolibrary.org/obo/MONDO_0008214	http://identifiers.org/snomedct/85559002|UMLS:C0030779|NCIT:C85002|http://identifiers.org/mesh/D010381|https://omim.org/entry/169400|DOID:9631	
MONDO:0011868	biolink:Disease	lethal congenital contracture syndrome 2	Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.	DOID:0060560|UMLS:C1843478|UMLS:C4275145|OMIM:607598|Orphanet:137783|GARD:0009177|MESH:C564369|SCTID:715419004|Orphanet:137776	mondo.json	LCCS2|lethal congenital contractural syndrome 2|multiple contracture syndrome, Israeli-Bedouin type|multiple contracture syndrome, Israeli Bedouin type|ERBB3 lethal congenital contracture syndrome|multiple contracture syndrome, Israeli Bedouin type a|lethal congenital contracture syndrome type 2|lethal congenital contracture syndrome 2|lethal congenital contracture syndrome caused by mutation in ERBB3	http://purl.obolibrary.org/obo/MONDO_0011868	DOID:0060560|UMLS:C4275145|https://omim.org/entry/607598|Orphanet:137776|UMLS:C1843478|http://identifiers.org/snomedct/715419004|http://identifiers.org/mesh/C564369	ordo_malformation_syndrome|gard_rare
RO:0002630	biolink:NamedThing	directly negatively regulates	Process(P1) directly negatively regulates process(P2) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2).  For example, if protein A has protein binding activity(P1) that targets protein B and this binding  negatively regulates the kinase activity (P2) of protein B then P1 directly negatively regulates P2.		mondo.json		http://purl.obolibrary.org/obo/RO_0002630		
MONDO:0008211	biolink:Disease	pseudoleprechaunism syndrome, Patterson type	Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.	GARD:0004259|UMLS:C1868546|MESH:C536310|OMIM:169170|Orphanet:2976	mondo.json	Patterson's leprechaunoid syndrome|Patterson syndrome|Patterson pseudoleprechaunism syndrome	http://purl.obolibrary.org/obo/MONDO_0008211	http://identifiers.org/mesh/C536310|UMLS:C1868546|https://omim.org/entry/169170|Orphanet:2976	ordo_malformation_syndrome
CL:0000945	biolink:Cell	lymphocyte of B lineage	A lymphocyte of B lineage with the commitment to express an immunoglobulin complex.		mondo.json		http://purl.obolibrary.org/obo/CL_0000945		
MONDO:0008212	biolink:Disease	Pechet factor deficiency		OMIM:169200|UMLS:C1868545|MESH:C566814	mondo.json	Pechet factor deficiency|Dynia factor deficiency	http://purl.obolibrary.org/obo/MONDO_0008212	http://identifiers.org/mesh/C566814|UMLS:C1868545|https://omim.org/entry/169200	
CL:0000946	biolink:Cell	antibody secreting cell	A lymphocyte of B lineage that is devoted to secreting large amounts of immunoglobulin.		mondo.json		http://purl.obolibrary.org/obo/CL_0000946		
MONDO:0008210	biolink:Disease	patterned macular dystrophy 1	Any patterned macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.	DOID:0060866|OMIM:169150	mondo.json	macular dystrophy, patterned, 1|patterned dystrophy of retinal pigment epithelium|MDPT1|butterfly-shaped pigmentary maculary dystrophy 1|macular dystrophy, patterned, type 1|macular dystrophy, butterfly-shaped pigmentary|PRPH2 patterned macular dystrophy|butterfly-shaped pigment dystrophy of the fovea|patterned macular dystrophy caused by mutation in PRPH2|macular dystrophy, butterfly-Shaped pigmentary|butterfly dystrophy of retinal pigment epithelium|patterned macular dystrophy type 1	http://purl.obolibrary.org/obo/MONDO_0008210	https://omim.org/entry/169150|DOID:0060866	
CL:0000948	biolink:Cell	IgE memory B cell	A class switched memory B cell that expresses IgE on the cell surface.		mondo.json	memory IgE B cell|memory IgE B-cell|memory IgE B lymphocyte|IgE memory B-cell|IgE memory B lymphocyte|memory IgE B-lymphocyte|IgE memory B-lymphocyte	http://purl.obolibrary.org/obo/CL_0000948		
MONDO:0011870	biolink:Disease	annular epidermolytic ichthyosis	Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.	Orphanet:281139|MESH:C564367|SCTID:718631006|OMIM:607602|UMLS:C1843463	mondo.json	epidermolytic ichthyosis, annular|ichthyosis, cyclic, with epidermolytic hyperkeratosis|AEI|Ciehk	http://purl.obolibrary.org/obo/MONDO_0011870	http://identifiers.org/snomedct/718631006|https://omim.org/entry/607602|UMLS:C1843463|http://identifiers.org/mesh/C564367|Orphanet:281139	ordo_disease
MONDO:0011872	biolink:Disease	Griscelli syndrome type 2	Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood.	GARD:0004483|DOID:0060833|OMIM:607624|MESH:C537302|Orphanet:79477|ICD10CM:E70.3|NCIT:C111814|UMLS:C1868679	mondo.json	Griscelli-Pruni��ras syndrome type 2|Griscelli syndrome, type 2|Griscelli-Pruniéras syndrome type 2|Paid syndrome|hypopigmentation-immunodeficiency with or without neurologic impairment syndrome|GS2|PAID syndrome|Griscelli syndrome type 2|Griscelli disease type 2|partial albinism and immunodeficiency syndrome|Griscelli syndrome with hemophagocytic syndrome|Griscelli-PruniC)ras syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0011872	NCIT:C111814|https://omim.org/entry/607624|http://identifiers.org/mesh/C537302|UMLS:C1868679|Orphanet:79477|DOID:0060833	ordo_clinical_subtype|gard_rare
MONDO:0011871	biolink:Disease	Niemann-Pick disease type B	Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea	ICD10CM:E75.241|Orphanet:99022|NCIT:C126866|SCTID:39390005|UMLS:C0268243|OMIM:607616|DOID:0070112|MESH:D052537|Orphanet:77293|GARD:0010729	mondo.json	Niemann-Pick disease, type F|type B Niemann-Pick disease|Niemann-Pick disease, type E|Niemann-PICK disease, type B|Niemann Pick disease type B|Niemann-Pick disease, Intermediate, with visceral involvement and rapid progression	http://purl.obolibrary.org/obo/MONDO_0011871	UMLS:C0268243|DOID:0070112|http://purl.bioontology.org/ontology/ICD10CM/E75.241|https://omim.org/entry/607616|http://identifiers.org/mesh/D052537|Orphanet:77293|http://identifiers.org/snomedct/39390005|NCIT:C126866	gard_rare|ordo_disease
MONDO:0011874	biolink:Disease	neonatal ichthyosis-sclerosing cholangitis syndrome	Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.	Orphanet:59303|UMLS:C1843355|MESH:C564365|OMIM:607626|GARD:0010583|SCTID:724278007	mondo.json	ILVASC|IHSC|ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis|NISCH syndrome|Ilvasc|neonatal ichthyosis-sclerosing cholangitis syndrome|ichthyosis-sclerosing cholangitis syndrome|Nisch syndrome|ichthyosis-hypotrichosis-sclerosing cholangitis syndrome	http://purl.obolibrary.org/obo/MONDO_0011874	http://identifiers.org/snomedct/724278007|Orphanet:59303|https://omim.org/entry/607626|UMLS:C1843355|http://identifiers.org/mesh/C564365	ordo_disease
MONDO:0011873	biolink:Disease	Niemann-Pick disease, type C2	Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person.	OMIM:607625|NCIT:C126865|UMLS:C1843366|DOID:0070114|MESH:C536119|GARD:0003992	mondo.json	type C2 Niemann-Pick disease|Niemann-PICK disease, type C2|Niemann-Pick disease, type C2|Niemann-Pick disease type C2|NPC2	http://purl.obolibrary.org/obo/MONDO_0011873	DOID:0070114|https://omim.org/entry/607625|http://identifiers.org/mesh/C536119|UMLS:C1843366|NCIT:C126865	gard_rare
MONDO:0011876	biolink:Disease	juvenile absence epilepsy	Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.	DOID:0060172|GARD:0002162|OMIMPS:607631|UMLS:C4317339|NCIT:C129868|Orphanet:1941|SCTID:230413002	mondo.json	EJA1|epilepsy, juvenile absence, susceptibility to, 1|susceptibility to juvenile absence epilepsy 1|epilepsy, juvenile absence, susceptibility to, type 1|JAE|epilepsy juvenile absence	http://purl.obolibrary.org/obo/MONDO_0011876	https://omim.org/phenotypicSeries/PS607631|UMLS:C4317339|NCIT:C129868|http://identifiers.org/snomedct/230413002|Orphanet:1941|DOID:0060172	ordo_disease|predisposition
MONDO:0011875	biolink:Disease	epilepsy, idiopathic generalized, susceptibility to, 11	An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the CLCN2 gene.	DOID:0111312|OMIM:607628	mondo.json	epilepsy, juvenile absence, susceptibility to, 2|epilepsy, juvenile myoclonic, susceptibility to, 8|generalised epilepsy caused by mutation in CLCN2|EIG11|epilepsy, idiopathic generalized, susceptibility to, type 11|susceptibility to idiopathic generalized epilepsy 11|CLCN2 generalised epilepsy|epilepsy, idiopathic generalized, susceptibility to, 11	http://purl.obolibrary.org/obo/MONDO_0011875	https://omim.org/entry/607628|DOID:0111312	predisposition
RO:0002629	biolink:NamedThing	directly positively regulates	Process(P1) directly postively regulates process(P2) iff: P1 positively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2).  For example, if protein A has protein binding activity(P1) that targets protein B and this binding positively regulates the kinase activity (P2) of protein B then P1 directly positively regulates P2.		mondo.json		http://purl.obolibrary.org/obo/RO_0002629		
CL:1000708	biolink:Cell	ureter adventitial cell		KUPO:0001119	mondo.json		http://purl.obolibrary.org/obo/CL_1000708		
MONDO:0008228	biolink:Disease	pernicious anemia	Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells.	Orphanet:120|UMLS:C0002892|EFO:0005576|ICD9:281.0|GARD:0012671|MESH:D000752|SCTID:84027009|OMIM:170900|NCIT:C2871|DOID:13381	mondo.json	Addison-Biermer anemia|Addison anaemia|Biermer anemia|anemia pernicious|pernicious anemia|Biermer disease|intrinsic factor deficiency|Biermer's anemia|Addison's anaemia|juvenile onset pernicious anemia|acquired pernicious anemia	http://purl.obolibrary.org/obo/MONDO_0008228	Orphanet:120|http://identifiers.org/mesh/D000752|DOID:13381|http://identifiers.org/snomedct/84027009|https://omim.org/entry/170900|UMLS:C0002892|NCIT:C2871	
NCBITaxon:7953	biolink:OrganismalEntity	Cyprinidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_7953		
MONDO:0008229	biolink:Disease	peroneal nerve, accessory deep		UMLS:C1868426|GARD:0008546|OMIM:170980|MESH:C536001	mondo.json	accessory deep peroneal nerve|peroneal nerve, accessory deep	http://purl.obolibrary.org/obo/MONDO_0008229	http://identifiers.org/mesh/C536001|UMLS:C1868426|https://omim.org/entry/170980	gard_rare
NCBITaxon:7952	biolink:OrganismalEntity	Cypriniformes		GC_ID:1	mondo.json	carps and others	http://purl.obolibrary.org/obo/NCBITaxon_7952		
CL:1000706	biolink:Cell	ureter urothelial cell		KUPO:0001117	mondo.json		http://purl.obolibrary.org/obo/CL_1000706		
MONDO:0011856	biolink:Disease	spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome		Orphanet:168552|OMIM:607543|MESH:C535791|UMLS:C1843706|GARD:0008719	mondo.json	SmD with with bowed forearms and facial dysmorphism|spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism|SmD with bowed forearms and Facial Dysmorphism	http://purl.obolibrary.org/obo/MONDO_0011856	http://identifiers.org/mesh/C535791|Orphanet:168552|https://omim.org/entry/607543|UMLS:C1843706	ordo_disease
MONDO:0008226	biolink:Disease	periodontitis, aggressive 1	A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people.	DOID:1474|OMIM:170650|UMLS:C0031106|EFO:0006342|MESH:D010520|ICD9:523.5	mondo.json	periodontitis, aggressive, 1|periodontitis, prepubertal|periodontitis, juvenile|periodontitis, aggressive, type 1|juvenile periodontitis|periodontitis 1, juvenile	http://purl.obolibrary.org/obo/MONDO_0008226	http://identifiers.org/mesh/D010520|DOID:1474|UMLS:C0031106|https://omim.org/entry/170650	
MONDO:0011855	biolink:Disease	granular corneal dystrophy type II	Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.	UMLS:C1275685|OMIM:607541|GARD:0009278|ICD9:371.56|SCTID:397568004|Orphanet:98963|DOID:0060444|MESH:C535474	mondo.json	granular-lattice corneal dystrophy|avellino corneal dystrophy|combined granular-lattice corneal dystrophies|GCD2|corneal dystrophy Avellino type|GCDII|granular corneal dystrophy, type 2|Avellino corneal dystrophy|granular-lattice (Avellino) corneal dystrophy|granular corneal dystrophy type 2|ACD|CGD2|granular and lattice corneal dystrophies|corneal dystrophy, AVELLINO type|CDA|combined granular-lattice corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0011855	DOID:0060444|UMLS:C1275685|https://omim.org/entry/607541|Orphanet:98963|http://identifiers.org/snomedct/397568004|http://identifiers.org/mesh/C535474	ordo_disease
MONDO:0008227	biolink:Disease	peripheral dysostosis		OMIM:170700|UMLS:CN074256|GARD:0002015|UMLS:C0220659|Orphanet:1795	mondo.json	peripheral dysostosis|dysostosis peripheral	http://purl.obolibrary.org/obo/MONDO_0008227	Orphanet:1795|UMLS:CN074256|https://omim.org/entry/170700	ordo_malformation_syndrome|gard_rare
MONDO:0008224	biolink:Disease	hyperkalemic periodic paralysis	Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.	UMLS:C0238357|UMLS:CN074266|SCTID:304737009|Orphanet:682|GARD:0000195|OMIM:170500|NCIT:C123429|DOID:14451|MESH:D020513	mondo.json	sodium channel muscle disease|Gamstorp episodic adynamy|Gamstorp disease|hyperkalemic periodic paralysis, type 2|HYPP|adynamia episodica hereditaria with or without myotonia|hyperkalemic PP|familial hyperkalemic periodic paralysis (disorder) [ambiguous]|hyperkalemic periodic paralysis|primary hyperkalemic periodic paralysis|adynamia episodica hereditaria|hyperKPP|familial hyperkalemic periodic paralysis|normokalemic periodic paralysis, potassium-sensitive|primary hyperPP|hyperPP|familial hyperPP	http://purl.obolibrary.org/obo/MONDO_0008224	DOID:14451|Orphanet:682|http://identifiers.org/snomedct/304737009|http://identifiers.org/mesh/D020513|NCIT:C123429|UMLS:C0238357|https://omim.org/entry/170500|UMLS:CN074266	ordo_disease|gard_rare
MONDO:0011858	biolink:Disease	spastic paraplegia, ataxia, and intellectual disability		UMLS:C1843661|OMIM:607565|MESH:C564378	mondo.json	Spar|spastic paraplegia, ataxia, and intellectual disability|spastic paraplegia, ataxia, and mental retardation	http://purl.obolibrary.org/obo/MONDO_0011858	http://identifiers.org/mesh/C564378|https://omim.org/entry/607565|UMLS:C1843661	
CL:1000703	biolink:Cell	kidney pelvis urothelial cell		KUPO:0001114	mondo.json		http://purl.obolibrary.org/obo/CL_1000703		
CL:0000954	biolink:Cell	small pre-B-II cell	A small pre-B-II cell is a pre-B-II cell that is Rag1-positive, Rag2-positive, pre-BCR-negative, and BCR-negative, is not proliferating, and carries a DNA rearrangement of one or more immunoglobulin light chain genes.		mondo.json	small pre-BII cell	http://purl.obolibrary.org/obo/CL_0000954		
MONDO:0011857	biolink:Disease	atrial fibrillation, familial, 3	Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene.	MESH:C563817|OMIM:607554|UMLS:C1837014	mondo.json	familial atrial fibrillation caused by mutation in KCNQ1|atrial fibrillation, familial, type 3|ATFB3|atrial fibrillation, familial, 3|KCNQ1 familial atrial fibrillation	http://purl.obolibrary.org/obo/MONDO_0011857	UMLS:C1837014|http://identifiers.org/mesh/C563817|https://omim.org/entry/607554	
CL:1000702	biolink:Cell	kidney pelvis smooth muscle cell		KUPO:0001113	mondo.json		http://purl.obolibrary.org/obo/CL_1000702		
MONDO:0008225	biolink:Disease	normokalemic periodic paralysis		OMIM:170600|SCTID:40381009|UMLS:C0268445|Orphanet:680|NCIT:C122791|GARD:0004009	mondo.json	potassium-sensitive normokalemic periodic paralysis|periodic paralysis type 3|normokalemic PP|normokalemic periodic paralysis|NormoKPP	http://purl.obolibrary.org/obo/MONDO_0008225	Orphanet:680|http://identifiers.org/snomedct/40381009|UMLS:C0268445|https://omim.org/entry/170600|NCIT:C122791	
CL:0000955	biolink:Cell	pre-B-II cell	A pre-B-II cell is a precursor B cell that expresses immunoglobulin mu heavy chain (IgHmu+), and lack expression of CD34, TdT, immunoglobulin kappa light chain and immunoglobulin lambda light chain.	BTO:0001133|CALOHA:TS-0819	mondo.json	pre-B-lymphocyte|pre-BII cell	http://purl.obolibrary.org/obo/CL_0000955		
MONDO:0008222	biolink:Disease	Andersen-Tawil syndrome	Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.	Orphanet:37553|UMLS:C1563715|SCTID:422348008|MESH:D050030|OMIM:170390|GARD:0009453|ICD9:759.89|NCIT:C84559|DOID:0050434	mondo.json	long QT syndrome type 7|Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features|long QT syndrome 7|periodic paralysis, Potassium-sensitive cardiodysrhythmic type|Andersen syndrome|cardiodysrhythmic potassium-sensitive periodic paralysis|LQT7|ATS|Andersen cardiodysrhythmic periodic paralysis|Potassium-sensitive cardiodysrhythmic type|Andersen-Tawil syndrome	http://purl.obolibrary.org/obo/MONDO_0008222	Orphanet:37553|http://identifiers.org/mesh/D050030|NCIT:C84559|UMLS:C1563715|https://omim.org/entry/170390|http://identifiers.org/snomedct/422348008|DOID:0050434	ordo_disease
CL:0000956	biolink:Cell	pre-B-I cell	A pre-B-I cell is a precursor B cell that expresses CD34 and surrogate immunoglobulin light chain (VpreB , Lambda 5 (mouse)/14.1 (human)) on the cell surface, and TdT, Rag1,and Rag2 intracellularly. Cell type carries a D-JH DNA rearrangement, and lacks expression of immunglobulin heavy chain protein.		mondo.json	pro-B cell (Philadelphia nomenclature)|pre-BI cell	http://purl.obolibrary.org/obo/CL_0000956		
MONDO:0008223	biolink:Disease	hypokalemic periodic paralysis	Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.	UMLS:C0238358|Orphanet:681|SCTID:82732003|NCIT:C84775|DOID:14452|GARD:0006729|MESH:D020514	mondo.json	familial periodic paralysis (& [hypokalaemic])|Westphall disease|hypokalemic familial periodic paralysis|familial hypokalemic periodic paralysis|periodic hypokalemic paralysis|HOKPP|HypoPP|hypokalemic periodic paralysis|periodic paralysis I|HKPP	http://purl.obolibrary.org/obo/MONDO_0008223	Orphanet:681|NCIT:C84775|http://identifiers.org/mesh/D020514|UMLS:C0238358|http://identifiers.org/snomedct/82732003|DOID:14452	ordo_disease|gard_rare
MONDO:0011859	biolink:Disease	obsolete distal myopathy with early respiratory muscle involvement			mondo.json		http://purl.obolibrary.org/obo/MONDO_0011859		
MONDO:0008220	biolink:Disease	obsolete pepsinogen 3, group 1		OMIM:169710	mondo.json	pepsinogen 3, Group type 1|pepsinogen I--second locus|PGA3|pepsinogen 3, group I	http://purl.obolibrary.org/obo/MONDO_0008220	https://omim.org/entry/169710	
CL:0000958	biolink:Cell	T1 B cell	A transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen. This cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative, and CD93-positive. This cell type has also been described as IgM-high, CD19-positive, B220-positive, AA4-positive, and CD23-negative.		mondo.json	transitional stage 1 B cell|T1 B-cell|T1 B lymphocyte|T1 B-lymphocyte	http://purl.obolibrary.org/obo/CL_0000958		
CL:0000959	biolink:Cell	T2 B cell	A transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, CD93-positive and is located in the splenic B follicles. This cell type has also been described as IgM-high, CD19-positive, B220-positive, AA4-positive, and CD23-positive.		mondo.json	T2 B-lymphocyte|transitional stage 2 B cell|T2 B-cell|T2 B lymphocyte	http://purl.obolibrary.org/obo/CL_0000959		
MONDO:0008221	biolink:Disease	prolidase deficiency	Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.	Orphanet:742|NCIT:C85029|OMIM:170100|SCTID:410055005|MESH:D056732|DOID:0111540|GARD:0007473|UMLS:C0268532	mondo.json	Peptidase deficiency|prolidase deficiency|hyperimidodipeptiduria|Imidodipeptidase deficiency	http://purl.obolibrary.org/obo/MONDO_0008221	DOID:0111540|NCIT:C85029|https://omim.org/entry/170100|UMLS:C0268532|http://identifiers.org/mesh/D056732|Orphanet:742|http://identifiers.org/snomedct/410055005	ordo_disease
MONDO:0011861	biolink:Disease	breath-holding Spells		OMIM:607578	mondo.json	Bhs|breath-holding Spells	http://purl.obolibrary.org/obo/MONDO_0011861	https://omim.org/entry/607578	
MONDO:0011860	biolink:Disease	leprosy, susceptibility to, 2		OMIM:607572|UMLS:C1843632	mondo.json	LPRS2|leprosy, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0011860	https://omim.org/entry/607572|UMLS:C1843632	predisposition
MONDO:0011863	biolink:Disease	prostate cancer aggressiveness quantitative trait locus on chromosome 19		OMIM:607592	mondo.json	HPCqtl19|prostate cancer aggressiveness QTL|prostate cancer aggressiveness quantitative trait locus on chromosome type 19|prostate cancer aggressiveness quantitative trait locus on chromosome 19	http://purl.obolibrary.org/obo/MONDO_0011863	https://omim.org/entry/607592	
MONDO:0011862	biolink:Disease	hereditary spastic paraplegia 24	A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14.	Orphanet:101004|UMLS:C1843569|OMIM:607584|GARD:0009296|MESH:C564375|DOID:0110775	mondo.json	hereditary spastic paraplegia type 24|SPG24|autosomal recessive spastic paraplegia type 24|spastic paraplegia 24|spastic paraplegia 24, autosomal recessive|autosomal recessive spastic paraplegia 24	http://purl.obolibrary.org/obo/MONDO_0011862	https://omim.org/entry/607584|UMLS:C1843569|http://identifiers.org/mesh/C564375|DOID:0110775|Orphanet:101004	ordo_disease
MONDO:0011865	biolink:Disease	obsolete COL4A1-related familial vascular leukoencephalopathy	OBSOLETE. A brain disease characterized by autosomal dominant inheritance of fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has material basis in heterozygous mutation in the COL4A1 gene on chromosome 13q34.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0011865		
MONDO:0011864	biolink:Disease	immunodeficiency, common variable, 1		UMLS:C3149378|OMIM:607594	mondo.json	immunodeficiency, common variable|immunodeficiency, common variable, 1|antibody deficiency due to Icos defect|immunodeficiency, common variable, type 1|CVID1	http://purl.obolibrary.org/obo/MONDO_0011864	https://omim.org/entry/607594|UMLS:C3149378	
NCBITaxon:7962	biolink:OrganismalEntity	Cyprinus carpio		GC_ID:1	mondo.json	koi|fancy carp|common carp|mirror carp|carp	http://purl.obolibrary.org/obo/NCBITaxon_7962		
NCBITaxon:7961	biolink:OrganismalEntity	Cyprinus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_7961		
GO:0005615	biolink:NamedThing	extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.		mondo.json	intercellular space	http://purl.obolibrary.org/obo/GO_0005615		
NCBITaxon:64279	biolink:OrganismalEntity	Drosophila C virus		GC_ID:1	mondo.json	DCV	http://purl.obolibrary.org/obo/NCBITaxon_64279		
UBERON:0007530	biolink:AnatomicalEntity	migrating mesenchyme population			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007530		
GO:0005622	biolink:NamedThing	intracellular anatomical structure	A component of a cell contained within (but not including) the plasma membrane. In eukaryotes it includes the nucleus and cytoplasm.		mondo.json	nucleocytoplasm|protoplast|intracellular|protoplasm|internal to cell	http://purl.obolibrary.org/obo/GO_0005622		
GO:0005623	biolink:NamedThing	obsolete cell	OBSOLETE. The basic structural and functional unit of all organisms. Includes the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope.		mondo.json		http://purl.obolibrary.org/obo/GO_0005623		
HGNC:5948	biolink:NamedThing	IGSF1			mondo.json		http://identifiers.org/hgnc/5948		
UBERON:0007521	biolink:AnatomicalEntity	smooth muscle sphincter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007521		
HGNC:5950	biolink:NamedThing	IGSF3			mondo.json		http://identifiers.org/hgnc/5950		
HGNC:5956	biolink:NamedThing	IHH			mondo.json		http://identifiers.org/hgnc/5956		
UBERON:0007529	biolink:AnatomicalEntity	loose mesenchyme tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007529		
UBERON:0007524	biolink:AnatomicalEntity	dense mesenchyme tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007524		
UBERON:0007522	biolink:AnatomicalEntity	striated muscle sphincter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007522		
HGNC:5959	biolink:NamedThing	ELP1			mondo.json		http://identifiers.org/hgnc/5959		
HGNC:5960	biolink:NamedThing	IKBKB			mondo.json		http://identifiers.org/hgnc/5960		
HP:0000175	biolink:PhenotypicFeature	Cleft palate	Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).	SNOMEDCT_US:63567004|MSH:D002972|SNOMEDCT_US:87979003|UMLS:C0008925|Fyler:4876|UMLS:C2981150	mondo.json	Cleft palate|Cleft hard and soft palate|Cleft of hard and soft palate|Cleft of palate|Cleft secondary palate|Uranostaphyloschisis|Cleft roof of mouth|Palatoschisis	http://purl.obolibrary.org/obo/HP_0000175		hposlim_core
HGNC:5961	biolink:NamedThing	IKBKG			mondo.json		http://identifiers.org/hgnc/5961		
CHR:9606-chr16p11.2	biolink:NamedThing	16p11.2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr16p11.2		
HGNC:5962	biolink:NamedThing	IL10			mondo.json		http://identifiers.org/hgnc/5962		
HP:0000177	biolink:PhenotypicFeature	Abnormality of upper lip	An abnormality of the upper lip.	UMLS:C4025884	mondo.json	Deformity of the upper lip|Malformation of the upper lip|Abnormality of upper lip|Anomaly of the upper lip	http://purl.obolibrary.org/obo/HP_0000177		hposlim_core
HGNC:5964	biolink:NamedThing	IL10RA			mondo.json		http://identifiers.org/hgnc/5964		
HGNC:5965	biolink:NamedThing	IL10RB			mondo.json		http://identifiers.org/hgnc/5965		
HGNC:5967	biolink:NamedThing	IL11RA			mondo.json		http://identifiers.org/hgnc/5967		
NCBITaxon:91888	biolink:OrganismalEntity	lamiids		PMID:12144762|GC_ID:1	mondo.json	euasterids I	http://purl.obolibrary.org/obo/NCBITaxon_91888		
HP:0000174	biolink:PhenotypicFeature	Abnormal palate morphology	Any abnormality of the palate, i.e., of roof of the mouth.	UMLS:C4021815	mondo.json	Palatal anomaly|Abnormality of the palate|Palate abnormality|Abnormality of the roof of the mouth	http://purl.obolibrary.org/obo/HP_0000174		hposlim_core
GO:0005604	biolink:NamedThing	basement membrane	A collagen-containing extracellular matrix consisting of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers.		mondo.json	basal lamina|basement lamina|lamina densa	http://purl.obolibrary.org/obo/GO_0005604		
HGNC:3309	biolink:NamedThing	ELANE			mondo.json		http://identifiers.org/hgnc/3309		
NCBITaxon:40272	biolink:OrganismalEntity	Roseolovirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_40272		
HGNC:5971	biolink:NamedThing	IL12RB1			mondo.json		http://identifiers.org/hgnc/5971		
HGNC:5973	biolink:NamedThing	IL13			mondo.json		http://identifiers.org/hgnc/5973		
UBERON:0007503	biolink:AnatomicalEntity	epithelial vesicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007503		
UBERON:0007501	biolink:AnatomicalEntity	arborizing epithelial duct system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007501		
HGNC:5970	biolink:NamedThing	IL12B			mondo.json		http://identifiers.org/hgnc/5970		
UBERON:0007500	biolink:AnatomicalEntity	epithelial tube open at both ends			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007500		
MONDO:0011929	biolink:Disease	chromosome 1p36 deletion syndrome	A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.	SCTID:699306003|UMLS:C1842870|GARD:0006082|DECIPHER:18|DOID:0060410|NCIT:C74983|MESH:C535362|Orphanet:1606|ICD9:758.39|OMIM:607872	mondo.json	monosomy 1P36 syndrome|chromosome 1p36 deletion syndrome, distal, isolated cases|1p telomere deletion syndrome|deletion 1p36|deletion 1pter|monosomy 1p36|1p36 deletion syndrome|monosomy 1pter|chromosome 1p36 deletion syndrome|subtelomeric 1p36 deletion|Del(1)(p36)|1p36 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0011929	http://identifiers.org/snomedct/699306003|https://omim.org/entry/607872|Orphanet:1606|http://identifiers.org/mesh/C535362|UMLS:C1842870|NCIT:C74983|DOID:0060410	ordo_malformation_syndrome|gard_rare
NCBITaxon:447134	biolink:OrganismalEntity	Myodes		GC_ID:1	mondo.json	Clethrionomys	http://purl.obolibrary.org/obo/NCBITaxon_447134		
NCBITaxon:447135	biolink:OrganismalEntity	Myodes glareolus		GC_ID:1	mondo.json	bank vole|Bank vole|Clethrionomys glareolus	http://purl.obolibrary.org/obo/NCBITaxon_447135		
MONDO:0023910	biolink:Disease	Martsolf syndrome		OMIMPS:212720	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023910	https://omim.org/phenotypicSeries/PS212720	
MONDO:0011922	biolink:Disease	nonimmune chronic idiopathic neutropenia of adults		ICD10CM:D70|OMIM:607847|UMLS:C1842930|MESH:C564320|Orphanet:2688	mondo.json	nonimmune chronic idiopathic neutropenia of adults|adult idiopathic neutropenia|neutropenia, nonimmune chronic idiopathic, of adults|NI-CINA	http://purl.obolibrary.org/obo/MONDO_0011922	https://omim.org/entry/607847|Orphanet:2688|http://identifiers.org/mesh/C564320|UMLS:C1842930	ordo_disease
MONDO:0011921	biolink:Disease	aural atresia, congenital		MESH:C564321|OMIM:607842|UMLS:C1842937	mondo.json	CAA|aural atresia, congenital|aural atresia, congenital, with hyposmia	http://purl.obolibrary.org/obo/MONDO_0011921	https://omim.org/entry/607842|http://identifiers.org/mesh/C564321|UMLS:C1842937	
MONDO:0011924	biolink:Disease	panic disorder 2		UMLS:C1842922|OMIM:607853	mondo.json	Pand2|panic disorder type 2|panic disorder susceptibility locus, chromosome 9Q-related|panic disorder 2	http://purl.obolibrary.org/obo/MONDO_0011924	https://omim.org/entry/607853|UMLS:C1842922	
MONDO:0011923	biolink:Disease	osteoarthritis susceptibility 3	Any osteoarthritis in which the cause of the disease is a mutation in the ASPN gene.	OMIM:607850	mondo.json	osteoarthritis susceptibility 3|ASPN osteoarthritis|osteoarthritis of knee/hip|osteoarthritis susceptibility type 3|osteoarthritis caused by mutation in ASPN|OS3	http://purl.obolibrary.org/obo/MONDO_0011923	https://omim.org/entry/607850	predisposition
MONDO:0011926	biolink:Disease	psoriasis 9, susceptibility to		DOID:0111284|OMIM:607857	mondo.json	PSORS9|psoriasis susceptibility 9|psoriasis 9, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0011926	https://omim.org/entry/607857|DOID:0111284	
MONDO:0011925	biolink:Disease	congenital merosin-deficient muscular dystrophy 1A	Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.	UMLS:C1263858|SCTID:111503008|GARD:0003843|DOID:0110636|OMIM:607855|NCIT:C118783|EFO:0009138|Orphanet:258	mondo.json	muscular dystrophy, congenital merosin-deficient|merosin-negative congenital muscular dystrophy|merosin-deficient congenital muscular dystrophy type 1A|muscular dystrophy, congenital merosin-deficient, 1A|muscular dystrophy, congenital, merosin-deficient|muscular dystrophy, congenital, merosin deficient or partially deficient|MDC1A|congenital muscular dystrophy due to laminin alpha2 deficiency|LAMA2 congenital muscular dystrophy|CMD1A|LAMA2-related muscular dystrophy|congenital merosin-deficient muscular dystrophy type 1A|laminin alpha-2 deficiency|congenital muscular dystrophy type 1A|congenital muscular dystrophy caused by mutation in LAMA2|muscular dystrophy, congenital merosin-deficient, type 1A|muscular dystrophy, congenital, due to partial LAMA2 deficiency|merosin-deficient congenital muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0011925	https://omim.org/entry/607855|NCIT:C118783|Orphanet:258|http://identifiers.org/snomedct/111503008|DOID:0110636|UMLS:C1263858	ordo_malformation_syndrome
MONDO:0011928	biolink:Disease	caudal duplication	Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.	UMLS:C1842884|MESH:C564315|Orphanet:1756|SCTID:71464000|OMIM:607864|GARD:0001164	mondo.json	caudal DUPLICATION anomaly|split notochord syndrome|dipygus	http://purl.obolibrary.org/obo/MONDO_0011928	https://omim.org/entry/607864|http://identifiers.org/snomedct/71464000|Orphanet:1756|http://identifiers.org/mesh/C564315|UMLS:C1842884	ordo_malformation_syndrome|gard_rare
MONDO:0011927	biolink:Disease	tufted angioma	Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood.	ICDO:9161/0|GARD:0000425|MESH:C536924|NCIT:C4487|SCTID:705155008|Orphanet:1063|HP:0012329|OMIM:607859|ICD9:215.9|UMLS:C0346073	mondo.json	tufted hemangioma of skin|tufted hemangioma of the skin|tufted angioma|tufted angioma of skin|tufted angioma of the skin|tufted hemangioma|angioma tufted|tufted skin angioma|angioma, tufted|Nakagawa angioblastoma|angioblastoma of Nakagawa|tufted angioma (disease)	http://purl.obolibrary.org/obo/MONDO_0011927	NCIT:C4487|UMLS:C0346073|https://omim.org/entry/607859|Orphanet:1063|http://identifiers.org/mesh/C536924|http://identifiers.org/snomedct/705155008	ordo_disease
HGNC:5985	biolink:NamedThing	IL17RA			mondo.json		http://identifiers.org/hgnc/5985		
MONDO:0011931	biolink:Disease	ovarian cancer, susceptibility to, 1		OMIM:607893	mondo.json	ovarian cancer, susceptibility to, 1|ovarian cancer, susceptibility to|OVCAS1	http://purl.obolibrary.org/obo/MONDO_0011931	https://omim.org/entry/607893	predisposition
MONDO:0011930	biolink:Disease	epilepsy, familial adult myoclonic, 2	Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene.	MESH:C564313|UMLS:C1842852|OMIM:607876|DOID:0111692	mondo.json	FAME2|cortical myoclonus and epilepsy, autosomal dominant|cortical myoclonic tremor with epilepsy, familial, 2|ADRA2B epilepsy, familial adult myoclonic|epilepsy, familial adult myoclonic caused by mutation in ADRA2B|epilepsy, familial ADULT myoclonic, 2|benign adult familial myoclonic epilepsy 2|epilepsy, familial adult myoclonic, 2|epilepsy, familial adult myoclonic, type 2	http://purl.obolibrary.org/obo/MONDO_0011930	https://omim.org/entry/607876|DOID:0111692|http://identifiers.org/mesh/C564313|UMLS:C1842852	
HGNC:3327	biolink:NamedThing	ELN			mondo.json		http://identifiers.org/hgnc/3327		
CHEBI:30563	biolink:ChemicalSubstance	silicon dioxide	A silicon oxide made up of linear triatomic molecules in which a silicon atom is covalently bonded to two oxygens.		mondo.json	Kieselsaeureanhydrid|silicon(IV) oxide|SiO2|[SiO2]|silicic anhydride|(SiO2)n|Siliziumdioxid|Silica, amorphous|silica|silicon dioxide	http://purl.obolibrary.org/obo/CHEBI_30563		
MONDO:0011919	biolink:Disease	autoimmune disease, susceptibility to, 1	Any autoimmune disease in which the cause of the disease is a mutation in the FOXD3 gene.	OMIM:607836	mondo.json	susceptibility to autoimmune disease 1|autoimmune disease, susceptibility to, 1|autoimmune disease caused by mutation in FOXD3|vitiligo-associated multiple autoimmune disease susceptibility 2|AIS1|autoimmune disease susceptibility locus, chromosome 1P-related|FOXD3 autoimmune disease|autoimmune disease, susceptibility to, type 1	http://purl.obolibrary.org/obo/MONDO_0011919	https://omim.org/entry/607836	predisposition
MONDO:0011918	biolink:Disease	anxiety		MESH:D001007|OMIM:607834	mondo.json	anxiety-related personality traits|anxiety|harm avoidance	http://purl.obolibrary.org/obo/MONDO_0011918	http://identifiers.org/mesh/D001007|https://omim.org/entry/607834	
MONDO:0011911	biolink:Disease	craniolenticulosutural dysplasia	Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.	DOID:0070307|Orphanet:50814|MESH:C564332|OMIM:607812|UMLS:C1843042|SCTID:725100001	mondo.json	CLSD|Boyadjiev-Jabs syndrome|craniolenticulosutural dysplasia|cranio-lenticulo-sutural dysplasia, CLSD	http://purl.obolibrary.org/obo/MONDO_0011911	DOID:0070307|Orphanet:50814|https://omim.org/entry/607812|UMLS:C1843042|http://identifiers.org/snomedct/725100001|http://identifiers.org/mesh/C564332	ordo_malformation_syndrome
MONDO:0011910	biolink:Disease	obsolete autosomal dominant limb-girdle muscular dystrophy type 1C		GARD:0012527|UMLS:C1832567|MESH:C563362|OMIM:607801|DOID:0110302|NCIT:C148318|SCTID:719986000|Orphanet:265	mondo.json		http://purl.obolibrary.org/obo/MONDO_0011910	NCIT:C148318|https://omim.org/entry/607801|http://identifiers.org/snomedct/719986000|UMLS:C1832567|Orphanet:265|DOID:0110302|http://identifiers.org/mesh/C563362	ordo_disease
MONDO:0011913	biolink:Disease	Alzheimer disease 3	Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.	OMIM:607822|NCIT:C123412|DOID:0110042|MESH:C536598|GARD:0009468	mondo.json	Alzheimer disease, familial, 3, with spastic paraparesis and apraxia|Alzheimer's disease 3|Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques|Alzheimer disease type 3|Alzheimer disease, type 3|Alzheimer's disease type 3|Alzheimer disease 3, early-onset|Alzheimer disease familial 3|Alzheimer disease, type 3, with spastic paraparesis and apraxia|early-onset autosomal dominant Alzheimer disease caused by mutation in PSEN1|AD3|familial Alzheimer disease, type 3|Alzheimer disease, type 3, with spastic paraparesis and unusual plaques|Alzheimer disease 3|Alzheimer disease 3, early onset|Alzheimer disease, familial, 3|Alzheimer disease early onset type 3|Alzheimer disease, protection against, due to APOE3-Christchurch|familial Alzheimer's disease, type 3|AD|PSEN1 early-onset autosomal dominant Alzheimer disease	http://purl.obolibrary.org/obo/MONDO_0011913	NCIT:C123412|https://omim.org/entry/607822|DOID:0110042|http://identifiers.org/mesh/C536598	
MONDO:0011912	biolink:Disease	autosomal recessive nonsyndromic hearing loss 37	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.	OMIM:607821|DOID:0110495|UMLS:C1843028|MESH:C564331	mondo.json	autosomal recessive nonsyndromic deafness type 37|autosomal recessive nonsyndromic deafness caused by mutation in MYO6|deafness, autosomal recessive type 37|autosomal recessive deafness 37|MYO6 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 37|autosomal recessive nonsyndromic deafness 37|DFNB37	http://purl.obolibrary.org/obo/MONDO_0011912	https://omim.org/entry/607821|UMLS:C1843028|http://identifiers.org/mesh/C564331|DOID:0110495	
MONDO:0011915	biolink:Disease	mitral valve prolapse, myxomatous 2		MESH:C564326|OMIM:607829|UMLS:C1843003	mondo.json	MMVP2|mitral valve prolapse, myxomatous 2|mitral valve prolapse 2|myxomatous mitral valve prolapse 2|MVP2	http://purl.obolibrary.org/obo/MONDO_0011915	https://omim.org/entry/607829|UMLS:C1843003|http://identifiers.org/mesh/C564326	
MONDO:0011914	biolink:Disease	hypotrichosis-lymphedema-telangiectasia syndrome		MESH:C564327|DOID:0111361|OMIM:607823|UMLS:C1843004	mondo.json	HLTS|hypotrichosis-lymphedema-telangiectasia syndrome	http://purl.obolibrary.org/obo/MONDO_0011914	https://omim.org/entry/607823|UMLS:C1843004|DOID:0111361|http://identifiers.org/mesh/C564327	
MONDO:0011917	biolink:Disease	focal segmental glomerulosclerosis 3, susceptibility to	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CD2AP gene.	OMIM:607832	mondo.json	susceptibility to focal segmental glomerulosclerosis 3|glomerulosclerosis, focal segmental, 3|glomerulosclerosis, focal segmental, 3, susceptibility to|CD2AP focal segmental glomerulosclerosis|focal segmental glomerulosclerosis 3, susceptibility to|focal segmental glomerulosclerosis caused by mutation in CD2AP|FSGS3	http://purl.obolibrary.org/obo/MONDO_0011917	https://omim.org/entry/607832	predisposition
MONDO:0011916	biolink:Disease	Charcot-Marie-Tooth disease axonal type 2K	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.	DOID:0110167|UMLS:C1842984|OMIM:607831|Orphanet:99944|Orphanet:101097|UMLS:C1842983|SCTID:725047007	mondo.json	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2K|Charcot-Marie-Tooth disease, axonal, type 2K|CMT2K|autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K|Charcot-Marie-Tooth neuropathy axonal type 2K|autosomal recessive axonal CMT4C4|autosomal recessive Charcot-Marie-Tooth disease with hoarseness|Charcot-Marie-Tooth neuropathy, axonal, type 2K|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K|autosomal recessive axonal Charcot-Marie-Tooth disease type 2K|ARCMT2K|Charcot-Marie-Tooth disease, autosomal dominant, type 2K	http://purl.obolibrary.org/obo/MONDO_0011916	Orphanet:101097|https://omim.org/entry/607831|http://identifiers.org/snomedct/725047007|DOID:0110167|UMLS:C1842983	ordo_disease
HGNC:3330	biolink:NamedThing	EML1			mondo.json		http://identifiers.org/hgnc/3330		
HGNC:5996	biolink:NamedThing	IL1RAPL1			mondo.json		http://identifiers.org/hgnc/5996		
GO:0042611	biolink:NamedThing	MHC protein complex	A transmembrane protein complex composed of an MHC alpha chain and, in most cases, either an MHC class II beta chain or an invariant beta2-microglobin chain, and with or without a bound peptide, lipid, or polysaccharide antigen.		mondo.json		http://purl.obolibrary.org/obo/GO_0042611		
CHEBI:17578	biolink:ChemicalSubstance	toluene	The simplest member of the class toluenes consisting of a benzene core which bears a single methyl substituent.		mondo.json	phenylmethane|Toluol|methylbenzene|Toluen|TOLUENE|toluene|Toluene	http://purl.obolibrary.org/obo/CHEBI_17578		
MONDO:0011920	biolink:Disease	autosomal dominant nonsyndromic hearing loss 48	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene.	OMIM:607841|DOID:0110571|MESH:C564322|UMLS:C1842939	mondo.json	autosomal dominant nonsyndromic deafness caused by mutation in MYO1A|MYO1A autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness 48|deafness, autosomal dominant type 48|deafness, autosomal dominant 48|autosomal dominant nonsyndromic deafness type 48|autosomal dominant deafness 48|DFNA48	http://purl.obolibrary.org/obo/MONDO_0011920	https://omim.org/entry/607841|http://identifiers.org/mesh/C564322|DOID:0110571|UMLS:C1842939	
GO:0042613	biolink:NamedThing	MHC class II protein complex	A transmembrane protein complex composed of an MHC class II alpha and MHC class II beta chain, and with or without a bound peptide or polysaccharide antigen.		mondo.json		http://purl.obolibrary.org/obo/GO_0042613		
CHR:9606-chr8q21.11	biolink:NamedThing	8q21.11 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr8q21.11		
HGNC:3337	biolink:NamedThing	ADGRE2			mondo.json		http://identifiers.org/hgnc/3337		
HGNC:3334	biolink:NamedThing	EMP2			mondo.json		http://identifiers.org/hgnc/3334		
HGNC:3331	biolink:NamedThing	EMD			mondo.json		http://identifiers.org/hgnc/3331		
HGNC:5992	biolink:NamedThing	IL1B			mondo.json		http://identifiers.org/hgnc/5992		
MONDO:0011908	biolink:Disease	juvenile myelomonocytic leukemia	A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)	SCTID:445227008|ICDO:9946/3|NCIT:C9233|EFO:1000309|GARD:0009884|UMLS:C0349639|OMIM:607785|MedDRA:10023249|MESH:D054429|Orphanet:86834|DOID:0050458|ONCOTREE:JMML	mondo.json	leukemia, juvenile myelomonocytic, somatic|JMML|leukemia, juvenile myelomonocytic|leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation|leukemia, chronic myelomonocytic|juvenile chronic myelomonocytic leukemia|juvenile chronic myeloid leukemia|JCML|juvenile chronic myelogenous leukemia|chronic myelomonocytic leukemia|juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation|juvenile myelomonocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0011908	UMLS:C0349639|https://omim.org/entry/607785|NCIT:C9233|http://identifiers.org/snomedct/445227008|Orphanet:86834|http://identifiers.org/mesh/D054429|DOID:0050458	ordo_disease
NCBITaxon:91835	biolink:OrganismalEntity	fabids		GC_ID:1	mondo.json	eurosids I	http://purl.obolibrary.org/obo/NCBITaxon_91835		
MONDO:0011907	biolink:Disease	acrocapitofemoral dysplasia	Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.	GARD:0010605|DOID:0050604|OMIM:607778|SCTID:720416007|UMLS:C1843096|MESH:C564334|Orphanet:63446	mondo.json	acrocapitofemoral dysplasia|ACFD	http://purl.obolibrary.org/obo/MONDO_0011907	http://identifiers.org/snomedct/720416007|Orphanet:63446|https://omim.org/entry/607778|UMLS:C1843096|DOID:0050604|http://identifiers.org/mesh/C564334	ordo_malformation_syndrome|gard_rare
MONDO:0011909	biolink:Disease	Charcot-Marie-Tooth disease dominant intermediate D	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.	Orphanet:100046|UMLS:C1843075|GARD:0009207|DOID:0110200|OMIM:607791|MESH:C564333|SCTID:765747004	mondo.json	Charcot-Marie-Tooth neuropathy, dominant Intermediate D|Charcot-Marie-Tooth disease, dominant Intermediate type D|MPZ Charcot-Marie-Tooth disease|Charcot Marie Tooth disease dominant intermediate 3|DI-CMTD|autosomal dominant intermediate Charcot-Marie-Tooth disease type D|MPZ-related intermediate Charcot-Marie-Tooth neuropathy|Charcot-Marie-Tooth disease caused by mutation in MPZ|Di-Cmtd|Charcot-Marie-Tooth disease, dominant intermediate D|Charcot-Marie-Tooth neuropathy dominant intermediate D|CMTDID|Charcot-Marie-Tooth disease dominant intermediate type D	http://purl.obolibrary.org/obo/MONDO_0011909	Orphanet:100046|https://omim.org/entry/607791|http://identifiers.org/snomedct/765747004|UMLS:C1843075|DOID:0110200|http://identifiers.org/mesh/C564333	ordo_disease
MONDO:0011900	biolink:Disease	porokeratosis 4, disseminated superficial actinic type		OMIM:607728|UMLS:C1843180	mondo.json	porokeratosis 4, disseminated superficial actinic|porokeratosis 4, disseminated superficial actinic type|POROK4|porokeratosis, disseminated superficial actinic, 2	http://purl.obolibrary.org/obo/MONDO_0011900	https://omim.org/entry/607728|UMLS:C1843180	
MONDO:0011902	biolink:Disease	Charcot-Marie-Tooth disease type 1F	A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2)..	Orphanet:101085|SCTID:719980006|MESH:C537987|OMIM:607734|UMLS:C1843164|DOID:0110149|GARD:0009191	mondo.json	Charcot-Marie-Tooth neuropathy type 1F|CMT1F|Charcot Marie Tooth disease type 1F|CMT 1F|NEFL Charcot-Marie-Tooth disease type 1|Charcot-Marie-Tooth neuropathy, type 1F|Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL|Charcot-Marie-Tooth disease, type 1F|Charcot-Marie-Tooth disease, demyelinating, type 1F	http://purl.obolibrary.org/obo/MONDO_0011902	Orphanet:101085|http://identifiers.org/snomedct/719980006|https://omim.org/entry/607734|UMLS:C1843164|http://identifiers.org/mesh/C537987|DOID:0110149	gard_rare|ordo_disease
MONDO:0011901	biolink:Disease	Charcot-Marie-Tooth disease axonal type 2H	Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.	DOID:0110166|Orphanet:101102|OMIM:607731|UMLS:C1843173|MESH:C535415|GARD:0009196|SCTID:720637005	mondo.json	axonal Charcot-Marie-Tooth disease with pyramidal involvement|autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features|Charcot-Marie-Tooth disease type 2H|Charcot-Marie-Tooth neuropathy, axonal, with pyramidal features, autosomal recessive|CMT2H|Charcot-Marie-Tooth disease, axonal, type 2H|AR-CMT2C|CMT 2H|Charcot Marie Tooth disease type 2H|autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features|autosomal recessive axonal CMT4C2|Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0011901	Orphanet:101102|http://identifiers.org/snomedct/720637005|https://omim.org/entry/607731|UMLS:C1843173|DOID:0110166|http://identifiers.org/mesh/C535415	ordo_disease
MONDO:0011904	biolink:Disease	seizures, benign familial infantile, 3	Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene.	GARD:0001518|MedDRA:10067866|Orphanet:140927|UMLS:C1843140|OMIM:607745	mondo.json	convulsions, benign familial infantile, 3|benign familial infantile convulsions|BFIS3|SCN2A benign familial infantile epilepsy|convulsions benign familial neonatal|seizures, benign familial infantile, type 3|seizures, benign familial neonatal-infantile|benign familial neonatal-infantile seizures|seizures, benign familial infantile, 3|BFNIS|benign neonatal-infantile epilepsy|benign familial infantile epilepsy caused by mutation in SCN2A|epilepsy, benign neonatal-infantile	http://purl.obolibrary.org/obo/MONDO_0011904	https://omim.org/entry/607745|UMLS:C1843140|Orphanet:140927	ordo_disease|gard_rare
MONDO:0011903	biolink:Disease	Charcot-Marie-Tooth disease type 2J	Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.	DOID:0110157|GARD:0009198|MESH:C535417|Orphanet:99943|SCTID:717014003|OMIM:607736	mondo.json	Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities|Charcot-Marie-Tooth disease, axonal, type 2J|Charcot-Marie-Tooth neuropathy, type 2J|Charcot Marie Tooth disease type 2J|CMT 2J|Charcot-Marie-Tooth disease, type 2J|CMT2J|Charcot-Marie-Tooth neuropathy type 2J|autosomal dominant Charcot-Marie-Tooth disease type 2J|Charcot-Marie-Tooth disease, type 2, with hearing loss and pupillary abnormalities	http://purl.obolibrary.org/obo/MONDO_0011903	https://omim.org/entry/607736|Orphanet:99943|DOID:0110157|http://identifiers.org/mesh/C535417|http://identifiers.org/snomedct/717014003	ordo_disease|gard_rare
MONDO:0011906	biolink:Disease	congenital bile acid synthesis defect 1	Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.	Orphanet:79301|DOID:0111071|MESH:C535442|GARD:0009813|OMIM:607765	mondo.json	bile acid synthesis defect, congenital, 1|bile acid synthesis defect, congenital, type 1|congenital bile acid synthesis defect caused by mutation in HSD3B7|BASD1|HSD3B7 congenital bile acid synthesis defect|congenital bile acid synthesis defect, type 1|congenital bile acid synthesis defect type 1|CBAS1|3-alpha beta-hydroxy-delta-5-C27-steroid oxidoreductase, deficiency of|3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency|congenital bile acid synthesis defect 1|3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1	http://purl.obolibrary.org/obo/MONDO_0011906	https://omim.org/entry/607765|DOID:0111071|http://identifiers.org/mesh/C535442|Orphanet:79301	ordo_disease
MONDO:0011905	biolink:Disease	obsolete familial hypercholanemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0011905		
GO:0042626	biolink:NamedThing	ATPase-coupled transmembrane transporter activity	Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source.		mondo.json	P-P-bond-hydrolysis-driven transmembrane transporter activity|ATP-dependent transmembrane transporter activity|P-P-bond-hydrolysis-driven transporter|ATPase activity, coupled to transmembrane movement of substances|ATPase activity, coupled to movement of substances|ATP-coupled transmembrane transporter activity|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances	http://purl.obolibrary.org/obo/GO_0042626		
HGNC:3341	biolink:NamedThing	EMX2			mondo.json		http://identifiers.org/hgnc/3341		
HGNC:3349	biolink:NamedThing	ENG			mondo.json		http://identifiers.org/hgnc/3349		
HGNC:3344	biolink:NamedThing	ENAM			mondo.json		http://identifiers.org/hgnc/3344		
NCBITaxon:197562	biolink:OrganismalEntity	Pancrustacea		PMID:11557979|GC_ID:1|PMID:10874751	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_197562		
NCBITaxon:52281	biolink:OrganismalEntity	Sarcoptidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_52281		
NCBITaxon:197563	biolink:OrganismalEntity	Mandibulata		PMID:9727836|PMID:11557979|GC_ID:1	mondo.json	mandibulates	http://purl.obolibrary.org/obo/NCBITaxon_197563		
NCBITaxon:52283	biolink:OrganismalEntity	Sarcoptes scabiei		GC_ID:1	mondo.json	Sarcoptes scabiei type hominis|Sarcoptes scabiei type suis|Sarcoptes scabiei var. chimp|Sarcoptes scabiei var. hominis|Sarcoptes scabiei var. nyctereutis|Sarcoptes scabiei type wallaby|Sarcoptes scabiei var. wallaby|Sarcoptes scabiei type canis|Sarcoptes scabiei type wombati|Sarcoptes scabiei type chimp|Sarcoptes scabiei var. suis|Sarcoptes scabiei var. canis|Sarcoptes scabiei var. wombati	http://purl.obolibrary.org/obo/NCBITaxon_52283		
NCBITaxon:52282	biolink:OrganismalEntity	Sarcoptes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_52282		
CHR:9606-chr2p16.1-p15	biolink:NamedThing	2p16.1-p15 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr2p16.1-p15		
HGNC:22082	biolink:NamedThing	VMA21			mondo.json		http://identifiers.org/hgnc/22082		
GO:0042636	biolink:NamedThing	negative regulation of hair cycle	Any process that stops, prevents, or reduces the frequency, rate or extent of the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair.		mondo.json	downregulation of hair cycle|down regulation of hair cycle|inhibition of hair cycle|down-regulation of hair cycle	http://purl.obolibrary.org/obo/GO_0042636		
GO:0042633	biolink:NamedThing	hair cycle	The cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair; one of the collection or mass of filaments growing from the skin of an animal, and forming a covering for a part of the head or for any part or the whole of the body.		mondo.json		http://purl.obolibrary.org/obo/GO_0042633		
GO:0042632	biolink:NamedThing	cholesterol homeostasis	Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell.		mondo.json	positive regulation of cholesterol homeostasis|regulation of cholesterol homeostasis	http://purl.obolibrary.org/obo/GO_0042632		
GO:0042635	biolink:NamedThing	positive regulation of hair cycle	Any process that activates or increases the frequency, rate or extent of the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair.		mondo.json	up regulation of hair cycle|stimulation of hair cycle|up-regulation of hair cycle|activation of hair cycle|upregulation of hair cycle	http://purl.obolibrary.org/obo/GO_0042635		
GO:0042634	biolink:NamedThing	regulation of hair cycle	Any process that modulates the frequency, rate or extent of the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair.		mondo.json		http://purl.obolibrary.org/obo/GO_0042634		
HGNC:3356	biolink:NamedThing	ENPP1			mondo.json		http://identifiers.org/hgnc/3356		
HGNC:3354	biolink:NamedThing	ENO3			mondo.json		http://identifiers.org/hgnc/3354		
GO:0030659	biolink:NamedThing	cytoplasmic vesicle membrane	The lipid bilayer surrounding a cytoplasmic vesicle.		mondo.json		http://purl.obolibrary.org/obo/GO_0030659		
GO:0003039	biolink:NamedThing	detection of reduced oxygen by carotid body chemoreceptor signaling	The process in which information about the levels of oxygen are received and are converted to a molecular signal by chemoreceptors in a carotid body.		mondo.json	detection of reduced oxygen by carotid body chemoreceptor signalling	http://purl.obolibrary.org/obo/GO_0003039		
GO:0030656	biolink:NamedThing	regulation of vitamin metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body.		mondo.json	regulation of vitamin metabolism	http://purl.obolibrary.org/obo/GO_0030656		
HP:0000118	biolink:PhenotypicFeature	Phenotypic abnormality	A phenotypic abnormality.	UMLS:C4021819	mondo.json	Organ abnormality	http://purl.obolibrary.org/obo/HP_0000118		
GO:0003032	biolink:NamedThing	detection of oxygen	The series of events in which an oxygen stimulus is received by a cell and converted into a molecular signal.		mondo.json		http://purl.obolibrary.org/obo/GO_0003032		
HP:0000119	biolink:PhenotypicFeature	Abnormality of the genitourinary system	The presence of any abnormality of the genitourinary system.	MSH:D014564|UMLS:C0042063|SNOMEDCT_US:42030000|SNOMEDCT_US:287085006|UMLS:C4020895|UMLS:C0080276	mondo.json	Genitourinary dysplasia|Abnormality of the GU system|Genitourinary disease|Genitourinary abnormality|Urogenital abnormalities|Genitourinary tract anomalies|Urogenital anomalies|Genitourinary tract malformation	http://purl.obolibrary.org/obo/HP_0000119		
GO:0005694	biolink:NamedThing	chromosome	A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.		mondo.json	prophase chromosome|interphase chromosome|chromatid	http://purl.obolibrary.org/obo/GO_0005694		
NCBITaxon:976	biolink:OrganismalEntity	Bacteroidetes		PMID:29458499|PMID:11542017|PMID:26654112|PMID:28066339|GC_ID:11|PMID:11541229	mondo.json	Bacteroidota|BCF group|Cytophaga-Flexibacter-Bacteroides phylum|Bacteroidaeota|Bacteroides-Cytophaga-Flexibacter group|CFB group|CFB group bacteria	http://purl.obolibrary.org/obo/NCBITaxon_976		
GO:0003030	biolink:NamedThing	detection of hydrogen ion	The series of events in which a hydrogen ion stimulus is received by a cell and converted into a molecular signal.		mondo.json		http://purl.obolibrary.org/obo/GO_0003030		
HP:0000112	biolink:PhenotypicFeature	Nephropathy	A nonspecific term referring to disease or damage of the kidneys.	MSH:D007674|UMLS:C1408258|UMLS:C0022658|SNOMEDCT_US:90708001	mondo.json	Kidney disease|Kidney damage	http://purl.obolibrary.org/obo/HP_0000112		
HP:0000113	biolink:PhenotypicFeature	Polycystic kidney dysplasia	The presence of multiple cysts in both kidneys.	Fyler:4508|SNOMEDCT_US:82525005|UMLS:C1567435|UMLS:C0022680|MSH:D007690	mondo.json	Polycystic kidney disease|Polycystic kidneys|Enlarged polycystic kidneys	http://purl.obolibrary.org/obo/HP_0000113		
GO:0003044	biolink:NamedThing	regulation of systemic arterial blood pressure mediated by a chemical signal	The regulation of blood pressure mediated by biochemical signaling: hormonal, autocrine or paracrine.		mondo.json	blood pressure regulation mediated by a chemical signal	http://purl.obolibrary.org/obo/GO_0003044		
HP:0000123	biolink:PhenotypicFeature	Nephritis	The presence of inflammation affecting the kidney.	UMLS:C0027697|MSH:D009393|SNOMEDCT_US:52845002	mondo.json	Kidney inflammation	http://purl.obolibrary.org/obo/HP_0000123		
HP:0002789	biolink:PhenotypicFeature	Tachypnea	Very rapid breathing.	MSH:D059246|UMLS:C0231835|SNOMEDCT_US:271823003	mondo.json	Polypnea|Increased respiratory rate or depth of breathing	http://purl.obolibrary.org/obo/HP_0002789		
GO:0003018	biolink:NamedThing	vascular process in circulatory system	A circulatory process that occurs at the level of the vasculature.		mondo.json	vasculature process	http://purl.obolibrary.org/obo/GO_0003018		
GO:0003014	biolink:NamedThing	renal system process	A organ system process carried out by any of the organs or tissues of the renal system. The renal system maintains fluid balance, and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels; in other species, the renal system may comprise related structures (e.g., nephrocytes and malpighian tubules in Drosophila).		mondo.json	kidney system process|excretory system process	http://purl.obolibrary.org/obo/GO_0003014		
GO:0003013	biolink:NamedThing	circulatory system process	A organ system process carried out by any of the organs or tissues of the circulatory system. The circulatory system is an organ system that moves extracellular fluids to and from tissue within a multicellular organism.		mondo.json		http://purl.obolibrary.org/obo/GO_0003013		
GO:0003016	biolink:NamedThing	respiratory system process	A process carried out by the organs or tissues of the respiratory system. The respiratory system is an organ system responsible for respiratory gaseous exchange.		mondo.json	respiratory gaseous exchange	http://purl.obolibrary.org/obo/GO_0003016		
GO:0003015	biolink:NamedThing	heart process	A circulatory system process carried out by the heart. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.		mondo.json	cardiac process	http://purl.obolibrary.org/obo/GO_0003015		
GO:0003012	biolink:NamedThing	muscle system process	A organ system process carried out at the level of a muscle. Muscle tissue is composed of contractile cells or fibers.		mondo.json	muscle physiological process	http://purl.obolibrary.org/obo/GO_0003012		
HP:0002750	biolink:PhenotypicFeature	Delayed skeletal maturation	A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.	UMLS:C0541764|SNOMEDCT_US:123983008	mondo.json	Delayed bone age before puberty|Delayed bone maturation|Retarded ossification|Delayed skeletal development|Skeletal maturation retardation|Retarded bone age|Delayed bone age	http://purl.obolibrary.org/obo/HP_0002750		
HGNC:10057	biolink:NamedThing	RNF13			mondo.json		http://identifiers.org/hgnc/10057		
HP:0002754	biolink:PhenotypicFeature	Osteomyelitis	Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.	SNOMEDCT_US:60168000|SNOMEDCT_US:111253001|UMLS:C2242472|MSH:D010019|UMLS:C0029443	mondo.json	Bone infection	http://purl.obolibrary.org/obo/HP_0002754		
HGNC:10050	biolink:NamedThing	RNASEL			mondo.json		http://identifiers.org/hgnc/10050		
GO:0003029	biolink:NamedThing	detection of hypoxic conditions in blood by carotid body chemoreceptor signaling	The process in which information about a lack of oxygen are received and are converted to a molecular signal by chemoreceptors in the carotid bodies.		mondo.json	detection of hypoxic conditions in blood by carotid body chemoreceptor signalling	http://purl.obolibrary.org/obo/GO_0003029		
GO:0003027	biolink:NamedThing	regulation of systemic arterial blood pressure by carotid body chemoreceptor signaling	The process that modulates blood pressure by the action of chemoreceptors found in the carotid bodies and their resultant modulation of the vasomotor center. Chemoreceptors respond to oxygen, carbon dioxide and hydrogen ions.		mondo.json	carotid body chemoreceptor regulation of systemic arterial blood pressure|regulation of systemic arterial blood pressure by carotid body chemoreceptor signalling|carotid body chemoreceptor response to lowering of systemic arterial blood pressure|vagal reflex	http://purl.obolibrary.org/obo/GO_0003027		
HP:0000107	biolink:PhenotypicFeature	Renal cyst	A fluid filled sac in the kidney.	UMLS:C0022679|MSH:D052177|UMLS:C3887499	mondo.json	Renal cysts|Kidney cyst|Cystic kidney disease|Cystic kidneys	http://purl.obolibrary.org/obo/HP_0000107		
GO:0003020	biolink:NamedThing	detection of reduced oxygen by chemoreceptor signaling	The process in which information about the levels of oxygen are received and are converted to a molecular signal by chemoreceptors in the carotid bodies and the aortic bodies.		mondo.json	detection of reduced oxygen by chemoreceptor signalling	http://purl.obolibrary.org/obo/GO_0003020		
GO:0003022	biolink:NamedThing	detection of pH by chemoreceptor signaling	The process in which information about the levels of hydrogen ions are received and are converted to a molecular signal by chemoreceptors.		mondo.json	detection of pH by chemoreceptor signalling	http://purl.obolibrary.org/obo/GO_0003022		
HGNC:10069	biolink:NamedThing	RNF6			mondo.json		http://identifiers.org/hgnc/10069		
HGNC:34016	biolink:NamedThing	RNU4ATAC			mondo.json		http://identifiers.org/hgnc/34016		
HGNC:24678	biolink:NamedThing	FTO			mondo.json		http://identifiers.org/hgnc/24678		
HP:0012145	biolink:PhenotypicFeature	Abnormality of multiple cell lineages in the bone marrow		UMLS:C4023024	mondo.json		http://purl.obolibrary.org/obo/HP_0012145		
CHEBI:78505	biolink:ChemicalSubstance	venom	A toxin used by animals and injected into their victims by a bite or sting.		mondo.json	venoms	http://purl.obolibrary.org/obo/CHEBI_78505		
GO:0005652	biolink:NamedThing	nuclear lamina	The fibrous, electron-dense layer lying on the nucleoplasmic side of the inner membrane of a cell nucleus, composed of lamin filaments. The polypeptides of the lamina are thought to be concerned in the dissolution of the nuclear envelope and its re-formation during mitosis. The lamina is composed of lamin A and lamin C filaments cross-linked into an orthogonal lattice, which is attached via lamin B to the inner nuclear membrane through interactions with a lamin B receptor, an IFAP, in the membrane.		mondo.json		http://purl.obolibrary.org/obo/GO_0005652		
HGNC:24671	biolink:NamedThing	FLAD1			mondo.json		http://identifiers.org/hgnc/24671		
HP:0000153	biolink:PhenotypicFeature	Abnormality of the mouth	An abnormality of the mouth.	MSH:D009056|SNOMEDCT_US:128334002|UMLS:C0026633	mondo.json	Abnormal mouth|Abnormality of the mouth	http://purl.obolibrary.org/obo/HP_0000153		hposlim_core
HGNC:12698	biolink:NamedThing	VLDLR			mondo.json		http://identifiers.org/hgnc/12698		
MONDO:0033282	biolink:Disease	multiple mitochondrial dysfunctions syndrome 5		UMLS:CN388855|Orphanet:569274|OMIM:617613|DOID:0080274	mondo.json	multiple mitochondrial dysfunctions syndrome 5|MMDS5	http://purl.obolibrary.org/obo/MONDO_0033282	Orphanet:569274|DOID:0080274|UMLS:CN388855|https://omim.org/entry/617613	
HP:0000155	biolink:PhenotypicFeature	Oral ulcer	Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.	SNOMEDCT_US:26284000|UMLS:C0149745|MSH:D019226	mondo.json	Mouth ulcer|Mouth sore|Oral mucosal ulceration	http://purl.obolibrary.org/obo/HP_0000155		hposlim_core
MONDO:0033280	biolink:Disease	nephrotic syndrome 16		UMLS:CN651336|DOID:0080272|OMIM:617783	mondo.json	NPHS16|nephrotic syndrome, type 16|nephrotic syndrome 16	http://purl.obolibrary.org/obo/MONDO_0033280	DOID:0080272|UMLS:CN651336|https://omim.org/entry/617783	
HP:0000157	biolink:PhenotypicFeature	Abnormality of the tongue	Any abnormality of the tongue.	UMLS:C0878638	mondo.json	Abnormality of the tongue|Glossal abnormality|Tongue abnormality|Abnormal tongue|Lingual abnormality	http://purl.obolibrary.org/obo/HP_0000157		hposlim_core
MONDO:0033281	biolink:Disease	polycystic kidney disease 5	Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene.	Orphanet:731|OMIM:617610|DOID:0080273	mondo.json	polycystic kidney disease caused by mutation in DZIP1L|DZIP1L polycystic kidney disease|PKD5|polycystic kidney disease 5	http://purl.obolibrary.org/obo/MONDO_0033281	DOID:0080273|https://omim.org/entry/617610	
HP:0000159	biolink:PhenotypicFeature	Abnormal lip morphology	An abnormality of the lip.	UMLS:C2183966	mondo.json	Anomaly of lip|Lip abnormality|Malformation of lip|Deformity of lip|Abnormal lip|Abnormality of the lip	http://purl.obolibrary.org/obo/HP_0000159		
HP:0000152	biolink:PhenotypicFeature	Abnormality of head or neck	An abnormality of head and neck.	UMLS:C4021817	mondo.json	Head and neck abnormality|Abnormality of head or neck	http://purl.obolibrary.org/obo/HP_0000152		
HGNC:12692	biolink:NamedThing	VIM			mondo.json		http://identifiers.org/hgnc/12692		
HGNC:10031	biolink:NamedThing	RMRP			mondo.json		http://identifiers.org/hgnc/10031		
GO:0003006	biolink:NamedThing	developmental process involved in reproduction	A developmental process in which a progressive change in the state of some part of an organism, germline or somatic, specifically contributes to its ability to form offspring.		mondo.json	puberty|reproductive developmental process	http://purl.obolibrary.org/obo/GO_0003006		
GO:0003008	biolink:NamedThing	system process	A multicellular organismal process carried out by any of the organs or tissues in an organ system. An organ system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a biological objective.		mondo.json	organ system process	http://purl.obolibrary.org/obo/GO_0003008		
NCIT:C13018	biolink:NamedThing	Organ			mondo.json		http://purl.obolibrary.org/obo/NCIT_C13018		
HGNC:24682	biolink:NamedThing	FLVCR1			mondo.json		http://identifiers.org/hgnc/24682		
HP:0000164	biolink:PhenotypicFeature	Abnormality of the dentition	Any abnormality of the teeth.	MSH:D014071|UMLS:C0262444|SNOMEDCT_US:422775003|UMLS:C0040427	mondo.json	Abnormal dentition|Dental problem|Dental problems|Dental abnormality|Tooth abnormalities|Abnormality of the teeth|Dental abnormalities|Dental anomalies|Abnormal teeth	http://purl.obolibrary.org/obo/HP_0000164		hposlim_core
HP:0000168	biolink:PhenotypicFeature	Abnormality of the gingiva	Any abnormality of the gingiva (also known as gums).	UMLS:C4021816	mondo.json	Abnormality of the gums|Gingival abnormality	http://purl.obolibrary.org/obo/HP_0000168		hposlim_core
NCBITaxon:29907	biolink:OrganismalEntity	Sporothrix		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_29907		
NCBITaxon:29908	biolink:OrganismalEntity	Sporothrix schenckii		GC_ID:1	mondo.json	Rhinocladium schenckii|Sporotrichum schenckii	http://purl.obolibrary.org/obo/NCBITaxon_29908		
HP:0000163	biolink:PhenotypicFeature	Abnormal oral cavity morphology	Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.	UMLS:C4025887	mondo.json	Abnormality of the oral cavity	http://purl.obolibrary.org/obo/HP_0000163		
GO:0005638	biolink:NamedThing	lamin filament	Any of a group of intermediate-filament proteins that form the fibrous matrix on the inner surface of the nuclear envelope. They are classified as lamins A, B and C.		mondo.json	type V intermediate filament	http://purl.obolibrary.org/obo/GO_0005638		
GO:0005635	biolink:NamedThing	nuclear envelope	The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space).		mondo.json		http://purl.obolibrary.org/obo/GO_0005635		
GO:0005634	biolink:NamedThing	nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.		mondo.json	cell nucleus|horsetail nucleus	http://purl.obolibrary.org/obo/GO_0005634		
HGNC:24650	biolink:NamedThing	EHMT1			mondo.json		http://identifiers.org/hgnc/24650		
HP:0000132	biolink:PhenotypicFeature	Menorrhagia	Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.	UMLS:C0025323|MSH:D008595|SNOMEDCT_US:386692008	mondo.json	Hypermenorrhea|Abnormally heavy periods|Abnormally heavy bleeding during menstruation	http://purl.obolibrary.org/obo/HP_0000132		
HP:0002795	biolink:PhenotypicFeature	Abnormal respiratory system physiology		Fyler:4200|UMLS:C4025677	mondo.json	Functional respiratory abnormality|Impaired pulmonary function|Abnormal respiration|Respiratory problem	http://purl.obolibrary.org/obo/HP_0002795		
HP:0002793	biolink:PhenotypicFeature	Abnormal pattern of respiration	An anomaly of the rhythm or depth of breathing.	UMLS:C1837388	mondo.json	Abnormal respiratory patterns|Abnormal pattern of respiration|Unusual breathing patterns	http://purl.obolibrary.org/obo/HP_0002793		
HGNC:10012	biolink:NamedThing	RHO			mondo.json		http://identifiers.org/hgnc/10012		
HP:0000133	biolink:PhenotypicFeature	Gonadal dysgenesis		UMLS:C0687149|SNOMEDCT_US:38804009|SNOMEDCT_US:205681004|SNOMEDCT_US:83579008|UMLS:C0018055|MSH:D006060|UMLS:C0018051|MSH:D006059|SNOMEDCT_US:95219002	mondo.json	Mixed gonadal dysgenesis|Pure gonadal dysgenesis	http://purl.obolibrary.org/obo/HP_0000133		
HGNC:10013	biolink:NamedThing	GRK1			mondo.json		http://identifiers.org/hgnc/10013		
HP:0000135	biolink:PhenotypicFeature	Hypogonadism	A decreased functionality of the gonad.	UMLS:C0020619|SNOMEDCT_US:48130008|MSH:D007006	mondo.json	Decreased activity of gonads	http://purl.obolibrary.org/obo/HP_0000135		
HGNC:12679	biolink:NamedThing	VDR			mondo.json		http://identifiers.org/hgnc/12679		
HP:0002797	biolink:PhenotypicFeature	Osteolysis	Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.	MSH:D010014|UMLS:C0221204|SNOMEDCT_US:30425001|SNOMEDCT_US:203522001	mondo.json	Increased bone resorption|Osteolytic defects of bones|Breakdown of bone	http://purl.obolibrary.org/obo/HP_0002797		
HP:0000130	biolink:PhenotypicFeature	Abnormality of the uterus	An abnormality of the uterus.	UMLS:C0266383|SNOMEDCT_US:37849005|MSH:C562565	mondo.json	Uterine malformations|Abnormality of the uterus|Uterine abnormalities	http://purl.obolibrary.org/obo/HP_0000130		
NCBITaxon:1549675	biolink:OrganismalEntity	Galloanserae		GC_ID:1	mondo.json	Galloanseri|ducks, geese, chickens, fowl, quail, currasows and allies	http://purl.obolibrary.org/obo/NCBITaxon_1549675		
HP:0012115	biolink:PhenotypicFeature	Hepatitis	Inflammation of the liver.	SNOMEDCT_US:128241005|UMLS:C0019158|MSH:D006505	mondo.json	Liver inflammation	http://purl.obolibrary.org/obo/HP_0012115		
HGNC:24668	biolink:NamedThing	CFHR5			mondo.json		http://identifiers.org/hgnc/24668		
HP:0012116	biolink:PhenotypicFeature	Abnormal circulating albumin concentration	Deviation from normal concentration of albumin in the blood.	UMLS:C4023036	mondo.json	Abnormal albumin level	http://purl.obolibrary.org/obo/HP_0012116		
HGNC:24669	biolink:NamedThing	FIGLA			mondo.json		http://identifiers.org/hgnc/24669		
HP:0000142	biolink:PhenotypicFeature	Abnormal vagina morphology	Any structural abnormality of the vagina.	UMLS:C1856023	mondo.json	Vaginal malformation	http://purl.obolibrary.org/obo/HP_0000142		
HGNC:12687	biolink:NamedThing	VHL			mondo.json		http://identifiers.org/hgnc/12687		
HGNC:10023	biolink:NamedThing	RIT1			mondo.json		http://identifiers.org/hgnc/10023		
HP:0000144	biolink:PhenotypicFeature	Decreased fertility		SNOMEDCT_US:17276009|UMLS:C0520927	mondo.json	Decreased fertility|Abnormal fertility	http://purl.obolibrary.org/obo/HP_0000144		
HGNC:10024	biolink:NamedThing	RLBP1			mondo.json		http://identifiers.org/hgnc/10024		
HGNC:12680	biolink:NamedThing	VEGFA			mondo.json		http://identifiers.org/hgnc/12680		
HGNC:12682	biolink:NamedThing	VEGFC			mondo.json		http://identifiers.org/hgnc/12682		
HP:0000140	biolink:PhenotypicFeature	Abnormality of the menstrual cycle	An abnormality of the ovulation cycle.	UMLS:C4025888|UMLS:C3549779	mondo.json	Abnormality of the menstrual cycle|Menstrual abnormalities	http://purl.obolibrary.org/obo/HP_0000140		
MONDO:0021130	biolink:Disease	disorder of sphingolipid biosynthesis	An inherited metabolic disease that is has its basis in the disruption of sphingolipid biosynthetic process.		mondo.json	inborn error of sphingolipid biosynthetic process|inborn sphingolipid biosynthetic process disorder|rare inborn error of sphingolipid biosynthetic process	http://purl.obolibrary.org/obo/MONDO_0021130		
CL:0000806	biolink:Cell	DN2 thymocyte	A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-positive.		mondo.json	TN2 cell|DN2 cell|DN2 immature T cell|preT.DN2.Th|DN2 alpha-beta immature T-cell|TN2 thymocyte|double negative 2|DN2 alpha-beta immature T lymphocyte|DN2 alpha-beta immature T-lymphocyte	http://purl.obolibrary.org/obo/CL_0000806		
CL:0000807	biolink:Cell	DN3 thymocyte	A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, and CD25-positive and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain.		mondo.json	DN3 immature T cell|DN3 cell|TN3 cell|TN3 thymocyte|double negative 3|preT.DN3.Th|DN3 alpha-beta immature T-cell|DN3 alpha-beta immature T lymphocyte|early cortical thymocyte|DN3 alpha-beta immature T-lymphocyte	http://purl.obolibrary.org/obo/CL_0000807		
CL:0000808	biolink:Cell	DN4 thymocyte	A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, CD25-negative, and pre-TCR-positive.		mondo.json	DN4 immature T cell|DN4 immature T-cell|DN4 cell|double negative 4|DN4 alpha-beta immature T lymphocyte|early cortical thymocyte|T.DN4.th|DN4 alpha-beta immature T-lymphocyte	http://purl.obolibrary.org/obo/CL_0000808		
CL:0000809	biolink:Cell	double-positive, alpha-beta thymocyte	A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors.		mondo.json	late cortical thymocyte|DP thymocyte|double-positive, alpha-beta immature T lymphocyte|DP cell	http://purl.obolibrary.org/obo/CL_0000809		
MONDO:0021138	biolink:Disease	bone marrow cancer	Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003	UMLS:C2703042|NCIT:C35501	mondo.json	malignant neoplasm of bone marrow|malignant bone marrow tumor|malignant bone marrow neoplasm|cancer of bone marrow|bone marrow cancer	http://purl.obolibrary.org/obo/MONDO_0021138	UMLS:C2703042|NCIT:C35501	
MONDO:0021137	biolink:Disease	not rare			mondo.json	common	http://purl.obolibrary.org/obo/MONDO_0021137		
MONDO:0008158	biolink:Disease	dacryocystitis-osteopoikilosis syndrome	Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter).	UMLS:C1833698|MESH:C536061|SCTID:721082002|OMIM:166705|GARD:0000351|Orphanet:1562	mondo.json	dacryocystitis osteopoikilosis|osteopoikilosis and dacryocystitis|Gunal Seber Basaran syndrome|Gunal-Seber-Basaran syndrome	http://purl.obolibrary.org/obo/MONDO_0008158	https://omim.org/entry/166705|UMLS:C1833698|http://identifiers.org/mesh/C536061|Orphanet:1562|http://identifiers.org/snomedct/721082002	ordo_malformation_syndrome
MONDO:0060733	biolink:Disease	humerofemoral hypoplasia with radiotibial ray deficiency		OMIM:618022|UMLS:CN248526	mondo.json	humerofemoral hypoplasia with radiotibial ray deficiency|HHRRD|Hfhrtrd	http://purl.obolibrary.org/obo/MONDO_0060733	https://omim.org/entry/618022|UMLS:CN248526	
MONDO:0021136	biolink:Disease	rare	A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 persons at any given time. Here we take the European definition to be consistent with Orphanet.		mondo.json	rare (European definition)	http://purl.obolibrary.org/obo/MONDO_0021136		
MONDO:0008159	biolink:Disease	postmenopausal osteoporosis	Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency.	UMLS:C0029458|EFO:0003854|SCTID:102447009|MESH:D015663	mondo.json	osteoporosis, postmenopausal|bone mineral density quantitative trait locus	http://purl.obolibrary.org/obo/MONDO_0008159	http://identifiers.org/mesh/D015663|http://identifiers.org/snomedct/102447009|UMLS:C0029458	
MONDO:0060732	biolink:Disease	tetraamelia syndrome 2		OMIM:618021	mondo.json	tetraamelia syndrome 2 with pulmonary agenesis|tetraamelia syndrome 2|TETAMS2	http://purl.obolibrary.org/obo/MONDO_0060732	https://omim.org/entry/618021	
MONDO:0021135	biolink:Disease	rare or common			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021135		
MONDO:0008156	biolink:Disease	autosomal dominant osteopetrosis 2	A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).	UMLS:C3179239|DOID:0110938|SCTID:725050005|OMIM:166600|Orphanet:53|GARD:0000383	mondo.json	Albers-Schönberg osteopetrosis|Albers-Schonberg disease, autosomal dominant|Albers-Schonberg osteopetrosis|marble bones, autosomal dominant|osteopetrosis, autosomal dominant, type 2|osteopetrosis, autosomal dominant type 2|autosomal dominant Albers-Schonberg disease|osteopetrosis, autosomal dominant 2|autosomal dominant osteopetrosis type II|osteosclerosis Fragilis generalisata|autosomal dominant osteopetrosis type 2|osteopetrosis autosomal dominant type 2|OPTA2	http://purl.obolibrary.org/obo/MONDO_0008156	https://omim.org/entry/166600|http://identifiers.org/snomedct/725050005|DOID:0110938|Orphanet:53|UMLS:C3179239	ordo_malformation_syndrome
MONDO:0021134	biolink:Disease	acquired factor X deficiency	An bleeding disorder with a decreased antigen and/or activity of factor X (FX) that is acquired. Acquired factor X deficiency is a rare disorder, commonly associated with a preceding viral illness and a circulating FX inhibitor. Although multiple treatment modalities have been described with variable success, in many cases, it is a self-limited condition.	NCIT:C131626|Orphanet:599501|UMLS:C0272328|ICD9:286.9|SCTID:33820001	mondo.json	acquired factor X deficiency|aFX	http://purl.obolibrary.org/obo/MONDO_0021134	NCIT:C131626|UMLS:C0272328|http://identifiers.org/snomedct/33820001|Orphanet:599501	ordo_disorder
MONDO:0021133	biolink:Disease	acquired factor XIII deficiency	An acquired coagulation disorder due to reduced levels and activity of factor XIII.	Orphanet:599513|UMLS:C0238120|NCIT:C131629	mondo.json	aFXIII|acquired factor XIII deficiency	http://purl.obolibrary.org/obo/MONDO_0021133	NCIT:C131629|UMLS:C0238120|Orphanet:599513	ordo_disorder
MONDO:0008157	biolink:Disease	Buschke-Ollendorff syndrome	Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.	MESH:C537415|DOID:0111536|GARD:0001044|OMIM:166700|Orphanet:1306	mondo.json	dermatofibrosis, disseminated with osteopoikilosis|disseminated dermatofibrosis with osteopoikilosis|dermatofibrosis lenticularis disseminata, isolated|osteopathia condensans disseminata|Buschke-Ollendorff syndrome|Bos|osteopoikilosis with melorheostosis|osteopoikilosis with or without melorheostosis|dermatofibrosis, disseminated, with osteopoikilosis|Buschke Ollendorff syndrome|Dermatoosteopoikilosis|dermatofibrosis lenticularis disseminata with osteopoikilosis|osteopoikilosis, isolated	http://purl.obolibrary.org/obo/MONDO_0008157	https://omim.org/entry/166700|Orphanet:1306|http://identifiers.org/mesh/C537415|DOID:0111536	ordo_malformation_syndrome
MONDO:0008154	biolink:Disease	osteomas of mandible		UMLS:C1833733|OMIM:166400|MESH:C563485	mondo.json	osteomas of mandible	http://purl.obolibrary.org/obo/MONDO_0008154	UMLS:C1833733|http://identifiers.org/mesh/C563485|https://omim.org/entry/166400	
MONDO:0021132	biolink:Disease	tertiary hyperparathyroidism	An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism.	ICD9:588.89|SCTID:78200003|NCIT:C114821|UMLS:C0271858	mondo.json	tertiary hyperparathyroidism	http://purl.obolibrary.org/obo/MONDO_0021132	NCIT:C114821|http://identifiers.org/snomedct/78200003|UMLS:C0271858	
MONDO:0021131	biolink:Disease	frontal lobe ependymal tumor	An ependymal tumor affecting the frontal lobe of the brain.	NCIT:C131573|UMLS:C4330009	mondo.json	frontal lobe ependymal tumor|ependymal tumor of frontal lobe	http://purl.obolibrary.org/obo/MONDO_0021131	NCIT:C131573|UMLS:C4330009	
MONDO:0008155	biolink:Disease	osteomesopyknosis	Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.	SCTID:254125009|UMLS:C0432264|OMIM:166450|Orphanet:2777|MESH:C537792|GARD:0000391	mondo.json	osteomesopyknosis|axial osteosclerosis	http://purl.obolibrary.org/obo/MONDO_0008155	https://omim.org/entry/166450|http://identifiers.org/snomedct/254125009|Orphanet:2777|http://identifiers.org/mesh/C537792|UMLS:C0432264	ordo_malformation_syndrome|gard_rare
CL:0000805	biolink:Cell	immature single positive thymocyte	A thymocyte that has the phenotype CD4-negative, CD8-positive, CD44-negative, CD25-negative, and pre-TCR-positive.		mondo.json	immature single positive T lymphocyte|immature single positive T-lymphocyte|ISP|T.ISP.th|immature single positive T cell	http://purl.obolibrary.org/obo/CL_0000805		
MONDO:0008152	biolink:Disease	multicentric carpo-tarsal osteolysis with or without nephropathy	Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.	UMLS:C2674705|SCTID:766992008|DOID:0111534|Orphanet:2774|GARD:0003818|GARD:0013042|OMIM:166300|MESH:C567171	mondo.json	multicentric osteolysis nephropathy|Carnevale canun Mendoza syndrome|multicentric carpotarsal osteolysis syndrome|MCTO|idiopathic multicentric osteolysis with or without nephropathy|osteolysis, hereditary, of carpal bones with or without nephropathy|multicentric carpo-tarsal osteolysis with or without nephropathy|multicentric osteolysis, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008152	http://identifiers.org/mesh/C567171|http://identifiers.org/snomedct/766992008|Orphanet:2774|DOID:0111534|UMLS:C2674705|https://omim.org/entry/166300	ordo_malformation_syndrome|gard_rare
MONDO:0035782	biolink:Disease	non-syndromic anorectal malformation with rectourethral fistula, bulbar type		Orphanet:600966	mondo.json	Non-syndromic ARM with rectourethral fistula, bulbar type|Non-syndromic ARM with rectobulbar fistula|Non-syndromic anorectal malformation with rectobulbar fistula	http://purl.obolibrary.org/obo/MONDO_0035782	Orphanet:600966	ordo_subtype_of_a_disorder
MONDO:0008153	biolink:Disease	progressive osseous heteroplasia	A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.	SCTID:719271000|UMLS:C0334041|OMIM:166350|DOID:0111535|Orphanet:2762|MESH:C562735|GARD:0000109|MedDRA:10048902	mondo.json	osteoma cutis|poh|osseous heteroplasia, progressive|familial ectopic ossification|ectopic ossification familial type|ectopic ossification, familial	http://purl.obolibrary.org/obo/MONDO_0008153	Orphanet:2762|DOID:0111535|http://identifiers.org/snomedct/719271000|http://identifiers.org/mesh/C562735|UMLS:C0334041|https://omim.org/entry/166350	ordo_malformation_syndrome|gard_rare
HGNC:12775	biolink:NamedThing	WNT10B			mondo.json		http://identifiers.org/hgnc/12775		
MONDO:0035781	biolink:Disease	obsolete non-syndromic anorectal malformation with rectourethral fistula		Orphanet:600961	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035781	Orphanet:600961	
MONDO:0008150	biolink:Disease	osteoglophonic dwarfism	Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.	MESH:C536050|SCTID:254144002|Orphanet:2645|OMIM:166250|DOID:0111532|GARD:0004142	mondo.json	OGD|osteoglophonic dwarfism|Osteoglosphonic dysplasia|Fairbank-Keats syndrome|OSTEOGLOPHONIC dysplasia	http://purl.obolibrary.org/obo/MONDO_0008150	Orphanet:2645|http://identifiers.org/mesh/C536050|DOID:0111532|http://identifiers.org/snomedct/254144002|https://omim.org/entry/166250	ordo_malformation_syndrome
MONDO:0035780	biolink:Disease	obsolete non-syndromic anorectal malformation with perineal fistula		Orphanet:600952	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035780	Orphanet:600952	
HGNC:12774	biolink:NamedThing	WNT1			mondo.json		http://identifiers.org/hgnc/12774		
MONDO:0008151	biolink:Disease	gnathodiaphyseal dysplasia	Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission.	UMLS:C1833736|MESH:C536039|OMIM:166260|DOID:0111533|Orphanet:53697|SCTID:715568002|GARD:0008698	mondo.json	osteogenesis imperfecta with unusual skeletal lesions|GNATHODIAPHYSEAL dysplasia|gnathodiaphyseal dysplasia|Levin syndrome 2|osteogenesis imperfecta Levin type|GDD|Gnathodiaphyseal sclerosis	http://purl.obolibrary.org/obo/MONDO_0008151	UMLS:C1833736|http://identifiers.org/mesh/C536039|DOID:0111533|http://identifiers.org/snomedct/715568002|Orphanet:53697|https://omim.org/entry/166260	ordo_malformation_syndrome
MONDO:0021129	biolink:Disease	microphthalmia	Congenital or developmental anomaly in which the eyeballs are abnormally small.	ICD9:743.1|ICD9:743.11|EFO:0005569|HP:0000568|NCIT:C98989|MESH:D008850|DOID:10629|ICD9:743.10|SCTID:204108000	mondo.json	microphthalmos|nanophthalmos|microphthalmia|simple microphthalmos	http://purl.obolibrary.org/obo/MONDO_0021129	http://identifiers.org/mesh/D008850|NCIT:C98989|http://identifiers.org/snomedct/204108000|DOID:10629	
MONDO:0021128	biolink:Disease	has an isolated presentation	An characteristic of a disease in which the disease is manifested as an isolated feature.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0021128		
MONDO:0035789	biolink:Disease	obsolete non-syndromic anorectal malformation with pouch colon		Orphanet:601013	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035789	Orphanet:601013	
MONDO:0035788	biolink:Disease	obsolete non-syndromic anorectal malformation with anal stenosis		Orphanet:601008	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035788	Orphanet:601008	
MONDO:0035787	biolink:Disease	obsolete non-syndromic anorectal malformation without fistula		Orphanet:601002	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035787	Orphanet:601002	
MONDO:0033123	biolink:Disease	exudative vitreoretinopathy 7		DOID:0080264|OMIM:617572|UMLS:CN321863	mondo.json	EVR7|exudative vitreoretinopathy 7	http://purl.obolibrary.org/obo/MONDO_0033123	DOID:0080264|UMLS:CN321863|https://omim.org/entry/617572	
MONDO:0035786	biolink:Disease	obsolete non-syndromic cloacal malformation		Orphanet:600998	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035786	Orphanet:600998	
MONDO:0035785	biolink:Disease	obsolete non-syndromic anorectal malformation with vestibular fistula		Orphanet:600993	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035785	Orphanet:600993	
HGNC:12771	biolink:NamedThing	CCN6			mondo.json		http://identifiers.org/hgnc/12771		
MONDO:0035784	biolink:Disease	obsolete non-syndromic anorectal malformation with rectovesical fistula		Orphanet:600984	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035784	Orphanet:600984	
MONDO:0035783	biolink:Disease	non-syndromic anorectal malformation with rectourethral fistula, prostatic type		Orphanet:600975	mondo.json	Non-syndromic ARM with rectoprostatic fistula|Non-syndromic anorectal malformation with rectoprostatic fistula|Non-syndromic ARM with rectourethral fistula, prostatic type	http://purl.obolibrary.org/obo/MONDO_0035783	Orphanet:600975	ordo_subtype_of_a_disorder
CL:0000817	biolink:Cell	precursor B cell	A precursor B cell is a B cell with the phenotype CD10-positive.	BTO:0001133|CALOHA:TS-0819	mondo.json	pre-B cell	http://purl.obolibrary.org/obo/CL_0000817		
CL:0000818	biolink:Cell	transitional stage B cell	An immature B cell of an intermediate stage between the pre-B cell stage and the mature naive stage with the phenotype surface IgM-positive and CD19-positive, and are subject to the process of B cell selection. A transitional B cell migrates from the bone marrow into the peripheral circulation, and then to the spleen.		mondo.json	transitional B cell|transitional stage B-lymphocyte|T1 B cell|T2 B cell|T3 B cell|transitional stage B-cell|transitional stage B lymphocyte	http://purl.obolibrary.org/obo/CL_0000818		
CL:0000819	biolink:Cell	B-1 B cell	A B cell of distinct lineage and surface marker expression. B-1 B cells are thought to be the primary source of natural IgM immunoglobulin, that is, IgM produced in large quantities without prior antigenic stimulation and generally reactive against various microorganisms, as well as the source of T-independent IgA immunoglobulin in the mucosal areas. These cells are CD43-positive.		mondo.json	B1 B-cell|B1 B lymphocyte|B-1 cell|B1 B-lymphocyte|B-1 B-cell|B-1 B lymphocyte|B-1 B-lymphocyte|B1 cell|B1 B cell	http://purl.obolibrary.org/obo/CL_0000819		
MONDO:0060729	biolink:Disease	protoporphyria, erythropoietic, 2		OMIM:618015|UMLS:CN248523	mondo.json	protoporphyria, erythropoietic, 2|EPP2	http://purl.obolibrary.org/obo/MONDO_0060729	UMLS:CN248523|https://omim.org/entry/618015	
MONDO:0060724	biolink:Disease	glycosylphosphatidylinositol biosynthesis defect 17		OMIM:618010|UMLS:CN248527	mondo.json	glycosylphosphatidylinositol biosynthesis defect 17|GPIBD17	http://purl.obolibrary.org/obo/MONDO_0060724	UMLS:CN248527|https://omim.org/entry/618010	
MONDO:0021127	biolink:Disease	has a syndromic presentation	An characteristic of a disease in which the disease is not manifested as an isolated feature but has multiple distinct features.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0021127		
MONDO:0021126	biolink:Disease	syndromic or isolated	An characteristic of a disease that varies depending on whether the disease appears as an isolated feature or whether the disease is a syndrome consisting of multiple features.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0021126		
CL:0000810	biolink:Cell	CD4-positive, alpha-beta thymocyte	An immature alpha-beta T cell that is located in the thymus and is CD4-positive and CD8-negative.		mondo.json	CD4-positive, alpha-beta immature T-cell|CD4-positive, alpha-beta immature T lymphocyte|SP CD4 cell|CD4-positive, alpha-beta immature T-lymphocyte	http://purl.obolibrary.org/obo/CL_0000810		
MONDO:0008169	biolink:Disease	osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension		MESH:C563478|OMIM:166990|GARD:0002277|UMLS:C1833688	mondo.json	osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension|osteochondrodysplasia with rhizomelia, platyspondyly, callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension	http://purl.obolibrary.org/obo/MONDO_0008169	UMLS:C1833688|https://omim.org/entry/166990|http://identifiers.org/mesh/C563478	
MONDO:0021125	biolink:Disease	disease characteristic	An attribute of a disease.	NCIT:C41009	mondo.json	qualifier|disease qualifier|modifier	http://purl.obolibrary.org/obo/MONDO_0021125	NCIT:C41009	
MONDO:0060722	biolink:Disease	obsolete neurodevelopmental disorder with brain, liver, and lung abnormalities			mondo.json		http://purl.obolibrary.org/obo/MONDO_0060722		
CL:0000811	biolink:Cell	CD8-positive, alpha-beta thymocyte	An immature alpha-beta T cell that is located in the thymus and is CD8-positive and CD4-negative.		mondo.json	CD8-positive, alpha-beta immature T-cell|CD8-positive, alpha-beta immature T lymphocyte|CD8-positive, alpha-beta immature T cell|SP CD8 cell|CD8-positive, alpha-beta immature T-lymphocyte	http://purl.obolibrary.org/obo/CL_0000811		
MONDO:0021124	biolink:Disease	female infertility	Diminished or absent ability of a female to achieve conception.	SCTID:6738008|ICD9:628.8|MESH:D007247|ICD10CM:N97|ICD9:628.9|UMLS:C0341869|EFO:0008560	mondo.json	female sterility|female sub-fertility|postpartum sterility|female infertility|female reproductive system infertility disorder|female reproductive system infertility|female subfertility|sub-fertility, female|sterility, female|sterility, postpartum|infertility disorder of female reproductive system|subfertility, female|sub fertility, female	http://purl.obolibrary.org/obo/MONDO_0021124	http://identifiers.org/mesh/D007247|http://identifiers.org/snomedct/6738008|http://purl.bioontology.org/ontology/ICD10CM/N97|UMLS:C0341869	
MONDO:0021123	biolink:Disease	Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone	A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms.	NCIT:C35871|UMLS:C1333481	mondo.json	Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone|bone tissue Ewing sarcoma/peripheral primitive neuroectodermal tumor|Ewing's sarcoma/peripheral primitive neuroectodermal tumor of bone	http://purl.obolibrary.org/obo/MONDO_0021123	NCIT:C35871|UMLS:C1333481	
MONDO:0008167	biolink:Disease	dermoid cyst of ovary	A cystic teratoma that arises from the ovary. It presents as a cystic mass that contains sebaceous material admixed with hairs. In a minority of cases it is bilateral.	DOID:5117|NCIT:C3856|OMIM:166950|MESH:C562731|UMLS:C0237020	mondo.json	dermoid cyst, ovarian|dermoid cyst of the ovary|dermoid cyst of ovary|ovarian dermoid cyst|teratoma, ovarian|ovary dermoid cyst|dermoid cyst (& [ovarian])	http://purl.obolibrary.org/obo/MONDO_0008167	UMLS:C0237020|NCIT:C3856|DOID:5117|https://omim.org/entry/166950|http://identifiers.org/mesh/C562731	
MONDO:0060720	biolink:Disease	congenital disorder of glycosylation with defective fucosylation		OMIMPS:618005|UMLS:CN248517	mondo.json	congenital disorder of glycosylation with defective fucosylation|CDGF	http://purl.obolibrary.org/obo/MONDO_0060720	https://omim.org/phenotypicSeries/PS618005|UMLS:CN248517	
MONDO:0008168	biolink:Disease	ovarian fibroma	A benign neoplasm arising from soft tissue of the ovary. It is characterized by the presence of spindle-shaped fibroblasts.	MedDRA:10064257|OMIM:166970|NCIT:C3498|UMLS:C0149951|SCTID:254865006|MESH:C562391|Orphanet:314473|HP:0010618	mondo.json	fibroma of the ovary|fibroma of ovary|ovarian fibromata|ovarian fibroma|ovarian fibroma (disease)	http://purl.obolibrary.org/obo/MONDO_0008168	http://identifiers.org/snomedct/254865006|https://omim.org/entry/166970|Orphanet:314473|http://identifiers.org/mesh/C562391|NCIT:C3498|UMLS:C0149951	ordo_disease
MONDO:0021122	biolink:Disease	obsolete small cell neuroendocrine carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021122		
MONDO:0021121	biolink:Disease	hemangioendothelioma	A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics.	GARD:0006557|NCIT:C3084|ICDO:9130/1|UMLS:C0018915|SCTID:403980002|MESH:D006390	mondo.json	hemangioendothelioma|angioendothelioma	http://purl.obolibrary.org/obo/MONDO_0021121	http://identifiers.org/snomedct/403980002|http://identifiers.org/mesh/D006390|UMLS:C0018915|NCIT:C3084	
MONDO:0008165	biolink:Disease	southeast Asian ovalocytosis	Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.	Orphanet:98868|SCTID:191169008|OMIM:166900|ICD9:282.1|UMLS:C1833690|UMLS:C1862323	mondo.json	Melanesian ovalocytosis|elliptocytosis, stomatocytic hereditary|ovalocytosis, SA type|sao|ovalocytosis, hereditary hemolytic|he, stomatocytic|Melanesian elliptocytosis|ovalocytosis, southeast Asian|elliptocytosis 4|hereditary ovalocytosis|ovalocytosis, Malaysian-Melanesian-Filipino type|stomatocytic elliptocytosis	http://purl.obolibrary.org/obo/MONDO_0008165	UMLS:C1833690|http://identifiers.org/snomedct/191169008|https://omim.org/entry/166900|Orphanet:98868	ordo_disease
MONDO:0008166	biolink:Disease	ovalocytosis, hereditary hemolytic, with defective erythropoiesis		MESH:C563479|UMLS:C1833689|OMIM:166910	mondo.json	ovalocytosis, hereditary hemolytic, with defective erythropoiesis	http://purl.obolibrary.org/obo/MONDO_0008166	UMLS:C1833689|https://omim.org/entry/166910|http://identifiers.org/mesh/C563479	
MONDO:0021120	biolink:Disease	functioning endocrine neoplasm	A hormone producing endocrine neoplasm, associated with a hormonal syndrome.	ICDO:8158/1|UMLS:C2986655|NCIT:C94759	mondo.json	functioning endocrine neoplasm|functioning tumor	http://purl.obolibrary.org/obo/MONDO_0021120	UMLS:C2986655|NCIT:C94759	
CL:0000816	biolink:Cell	immature B cell	An immature B cell is a B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation.		mondo.json	newly formed B cell|immature B-cell|immature B lymphocyte|immature B-lymphocyte	http://purl.obolibrary.org/obo/CL_0000816		
MONDO:0035793	biolink:Disease	obsolete non-syndromic anorectal malformation with h-type fistula		Orphanet:601033	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035793	Orphanet:601033	
MONDO:0008163	biolink:Disease	otofaciocervical syndrome	Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.	OMIMPS:166780|GARD:0004169|MESH:C563481|UMLS:C2931416|UMLS:C1833691|Orphanet:2792	mondo.json	Fara-Chlupackova syndrome|OFC syndrome	http://purl.obolibrary.org/obo/MONDO_0008163	Orphanet:2792|http://identifiers.org/mesh/C563481|https://omim.org/phenotypicSeries/PS166780|UMLS:C1833691	prototype_pattern|ordo_malformation_syndrome
MONDO:0008164	biolink:Disease	otosclerosis 1		OMIM:166800|UMLS:CN032031	mondo.json	OTSC1|OTS|otosclerosis 1	http://purl.obolibrary.org/obo/MONDO_0008164	UMLS:CN032031|https://omim.org/entry/166800	
MONDO:0035792	biolink:Disease	obsolete non-syndromic anorectal malformation with rectovaginal fistula		Orphanet:601028	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035792	Orphanet:601028	
HGNC:12786	biolink:NamedThing	WNT7A			mondo.json		http://identifiers.org/hgnc/12786		
MONDO:0008161	biolink:Disease	otodental syndrome	Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.	Orphanet:2791|UMLS:C1833693|GARD:0004168|SCTID:707310009|OMIM:166750	mondo.json	otodental syndrome|oculootodental syndrome|otodental dysplasia chromosome deletion syndrome|otodental syndrome with coloboma|otodental dysplasia|chromosome 11q13 deletion syndrome|globodontia	http://purl.obolibrary.org/obo/MONDO_0008161	Orphanet:2791|http://identifiers.org/snomedct/707310009|https://omim.org/entry/166750|UMLS:C1833693	ordo_malformation_syndrome
MONDO:0035791	biolink:Disease	obsolete non-syndromic anorectal malformation with rectal stenosis		Orphanet:601023	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035791	Orphanet:601023	
MONDO:0008162	biolink:Disease	otitis media, susceptibility to		OMIM:166760	mondo.json	OMS|otitis Media, chronic/recurrent|come/Rom|otitis media, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0008162	https://omim.org/entry/166760	predisposition
HGNC:12784	biolink:NamedThing	WNT5A			mondo.json		http://identifiers.org/hgnc/12784		
MONDO:0035790	biolink:Disease	obsolete non-syndromic anorectal malformation with rectal atresia		Orphanet:601018	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035790	Orphanet:601018	
MONDO:0021119	biolink:Disease	non-functioning endocrine neoplasm	A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome.	NCIT:C94760|UMLS:C2986656	mondo.json	non-functioning endocrine neoplasm|nonfunctioning tumor|nonfunctional Endocrine neoplasm|endocrine-inactive tumor	http://purl.obolibrary.org/obo/MONDO_0021119	NCIT:C94760|UMLS:C2986656	
MONDO:0008160	biolink:Disease	osteosclerosis with ichthyosis and fractures		MESH:C563483|OMIM:166740|UMLS:C1833697	mondo.json	osteosclerosis with ichthyosis and fractures|cortical thickening of long bones with bowing and ichthyosis	http://purl.obolibrary.org/obo/MONDO_0008160	http://identifiers.org/mesh/C563483|https://omim.org/entry/166740|UMLS:C1833697	
MONDO:0021118	biolink:Disease	intestinal neoplasm	A benign or malignant neoplasm involving the small or large intestine.	NCIT:C3141|DOID:4610|ONCOTREE:BOWEL|SCTID:126769007	mondo.json	intestinal tumor|tumor of intestine|bowel neoplasm|intestinal neoplasms|intestinal benign neoplasm|tumor of intestines|tumor of the intestines|intestine neoplasm|intestinal neoplasm|intestine growth|neoplasm of intestine|intestine tumor|intestinal tumors|neoplasm of intestinal tract|neoplasm of intestines|intestine neoplasm (disease)|neoplasm of the intestines	http://purl.obolibrary.org/obo/MONDO_0021118	DOID:4610|NCIT:C3141|http://identifiers.org/snomedct/126769007	
MONDO:0021117	biolink:Disease	lung neoplasm	A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma.	NCIT:C3200|ONCOTREE:LUNG|MESH:D008175	mondo.json	lung tumor|tumor of the lung|neoplasms, pulmonary|neoplasms, lung|lung neoplasm|lung neoplasm (disease)|tumor of lung|lung|neoplasm, lung|neoplasm of the lung|lung neoplasms|neoplasm, pulmonary|neoplasm of lung	http://purl.obolibrary.org/obo/MONDO_0021117	http://identifiers.org/mesh/D008175|NCIT:C3200	
HGNC:12783	biolink:NamedThing	WNT4			mondo.json		http://identifiers.org/hgnc/12783		
MONDO:0033135	biolink:Disease	Charcot-Marie-Tooth disease, demyelinating, type 1G	A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.	OMIM:618279|Orphanet:476394|DOID:0111560	mondo.json	CMT1G|PMP2-related Charcot-Marie-Tooth disease type 1|Charcot-Marie-Tooth disease, demyelinating, type 1G	http://purl.obolibrary.org/obo/MONDO_0033135	Orphanet:476394|https://omim.org/entry/618279|DOID:0111560	ordo_disease
HGNC:12782	biolink:NamedThing	WNT3			mondo.json		http://identifiers.org/hgnc/12782		
MONDO:0060759	biolink:Disease	neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures		OMIM:618088|Orphanet:597623	mondo.json	NEDAMSS|IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome|neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	http://purl.obolibrary.org/obo/MONDO_0060759	https://omim.org/entry/618088|Orphanet:597623	ordo_disease
MONDO:0060758	biolink:Disease	spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits		OMIM:618087	mondo.json	SCA42ND|spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	http://purl.obolibrary.org/obo/MONDO_0060758	https://omim.org/entry/618087	
MONDO:0008138	biolink:Disease	syndromic orbital border hypoplasia	Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.	MESH:C563490|OMIM:165600|SCTID:717337001|Orphanet:98606|UMLS:C4273912|UMLS:C1833795	mondo.json	Urrets-Zavalia syndrome|orbital margin, hypoplasia OF	http://purl.obolibrary.org/obo/MONDO_0008138	http://identifiers.org/snomedct/717337001|UMLS:C1833795|https://omim.org/entry/165600|UMLS:C4273912|Orphanet:98606|http://identifiers.org/mesh/C563490	ordo_malformation_syndrome
MONDO:0021116	biolink:Disease	luminal A breast carcinoma	A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis.	UMLS:C3642345|NCIT:C53554	mondo.json	Luminal A breast cancer|Luminal A breast carcinoma|Luminal A|Luminal A estrogen receptor positive subtype of breast carcinoma|Luminal A subtype of breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0021116	UMLS:C3642345|NCIT:C53554	
MONDO:0008139	biolink:Disease	OSLAM syndrome	OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia.	Orphanet:2760|OMIM:165660|GARD:0004129|MESH:C537138|UMLS:C1833792|SCTID:733064004	mondo.json	OSLAM syndrome|osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow|osteosarcoma, limb anomalies, and macrocytosis|osteosarcoma-limb anomalies-erythroid macrocytosis syndrome|osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anemia	http://purl.obolibrary.org/obo/MONDO_0008139	UMLS:C1833792|http://identifiers.org/mesh/C537138|https://omim.org/entry/165660|Orphanet:2760|http://identifiers.org/snomedct/733064004	ordo_malformation_syndrome
MONDO:0021115	biolink:Disease	luminal B breast carcinoma	A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype.	NCIT:C53555|UMLS:C3642346	mondo.json	Luminal B breast cancer|Luminal B|Luminal B breast carcinoma|Luminal B subtype of breast carcinoma|Luminal B estrogen receptor positive subtype of breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0021115	UMLS:C3642346|NCIT:C53555	
MONDO:0011789	biolink:Disease	familial meningioma	A meningioma that is transmitted from the parents to an offspring.	UMLS:C1333989|MESH:C537443|DOID:4586|OMIM:607174|NCIT:C5301	mondo.json	meningioma, SIS-related|hereditary meningioma (disease)|familial meningioma|meningioma, NF2-related, somatic|meningioma|susceptibility to familial meningioma|meningioma, familial, susceptibility to|hereditary meningioma	http://purl.obolibrary.org/obo/MONDO_0011789	http://identifiers.org/mesh/C537443|UMLS:C1333989|DOID:4586|NCIT:C5301|https://omim.org/entry/607174	
MONDO:0008136	biolink:Disease	isolated optic nerve hypoplasia		DOID:0111531|UMLS:C1833797|OMIM:165550|SCTID:724999003|GARD:0008419|Orphanet:137902|UMLS:C4510723	mondo.json	optic nerve hypoplasia, familial bilateral|familial bilateral optic nerve hypoplasia|optic nerve aplasia, bilateral|optic nerve hypoplasia, bilateral|isolated optic nerve hypoplasia/aplasia|optic nerve hypoplasia	http://purl.obolibrary.org/obo/MONDO_0008136	UMLS:C4510723|http://identifiers.org/snomedct/724999003|https://omim.org/entry/165550|UMLS:C1833797|Orphanet:137902|DOID:0111531	ordo_disease
MONDO:0021114	biolink:Disease	Bartholin gland neoplasm	A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma.	NCIT:C6434	mondo.json	neoplasm of the Bartholin's gland|neoplasm of Bartholin's gland|Bartholin's gland tumor|major vestibular gland neoplasm|neoplasm of major vestibular gland|major vestibular gland tumor|tumor of the Bartholin's gland|Bartholin's gland neoplasm|tumor of Bartholin's gland|Bartholin gland neoplasm|major vestibular gland neoplasm (disease)|tumor of major vestibular gland	http://purl.obolibrary.org/obo/MONDO_0021114	NCIT:C6434	
MONDO:0021113	biolink:Disease	respiratory failure	The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function.	DOID:11162|NCIT:C26872|ICD9:518.81|SCTID:39871006|MESH:D012131|ICD9:518.83|UMLS:C1145670	mondo.json	acute respiratory failure|respiratory failure|acute-on-chronic respiratory failure|chronic respiratory failure|failure, respiratory|acute and chronic respiratory failure|respiratory insufficiency/failure	http://purl.obolibrary.org/obo/MONDO_0021113	http://identifiers.org/mesh/D012131|UMLS:C1145670|DOID:11162|NCIT:C26872|http://identifiers.org/snomedct/39871006	
HP:0002912	biolink:PhenotypicFeature	Methylmalonic acidemia	Increased concentration of methylmalonic acid in the blood.	SNOMEDCT_US:42393006|MSH:C537358|UMLS:C0268583	mondo.json	Elevated circulating methylmalonic acid concentration	http://purl.obolibrary.org/obo/HP_0002912		
MONDO:0008137	biolink:Disease	orofaciodigital syndrome X	Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.	OMIM:165590|Orphanet:2756|MESH:C563491|UMLS:C1833796|DOID:0060380|GARD:0004061|SCTID:722075004	mondo.json	oral-facial-digital syndrome type 10|orofaciodigital syndrome 10|oral facial digital syndrome 10|oral-facial-digital syndrome 10|Figuera syndrome|orofaciodigital syndrome type Figuera|orofaciodigital syndrome type X|oral facial digital syndrome type 10|oral-Facial-digital syndrome with fibular aplasia|orofaciodigital syndrome type 10|Ofds 10|OFD10|orofaciodigital syndrome with fibular aplasia|OFD syndrome 10|oral-Facial-digital syndrome, type 10|orofaciodigital syndrome X	http://purl.obolibrary.org/obo/MONDO_0008137	https://omim.org/entry/165590|UMLS:C1833796|http://identifiers.org/snomedct/722075004|Orphanet:2756|DOID:0060380|http://identifiers.org/mesh/C563491	ordo_malformation_syndrome|gard_rare
MONDO:0008134	biolink:Disease	autosomal dominant optic atrophy, classic form	One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disc pallor, visual field and color vision defects.	OMIM:165500|DOID:0111441|GARD:0009890|Orphanet:98673|SCTID:717336005|UMLS:CN207069	mondo.json	optic atrophy type 1|OAK|optic atrophy, juvenile|OPA1|optic atrophy, Kjer type|Kjer optic atrophy|autosomal dominant optic atrophy, Kjer type|optic atrophy 1|Kjer-type optic atrophy	http://purl.obolibrary.org/obo/MONDO_0008134	https://omim.org/entry/165500|http://identifiers.org/snomedct/717336005|Orphanet:98673|UMLS:CN207069|DOID:0111441	ordo_disease
MONDO:0021112	biolink:Disease	scrotum cancer	A primary or metastatic malignant neoplasm affecting the scrotum.	ICD9:187.7|NCIT:C3560|SCTID:363454002|UMLS:C0153604	mondo.json	malignant scrotum neoplasm|cancer of scrotum|malignant scrotal tumor|malignant neoplasm of scrotum|malignant neoplasm of the scrotum|malignant tumor of the scrotum|scrotum cancer|malignant tumor of scrotum|malignant scrotal neoplasm	http://purl.obolibrary.org/obo/MONDO_0021112	UMLS:C0153604|NCIT:C3560|http://identifiers.org/snomedct/363454002	
HP:0002917	biolink:PhenotypicFeature	Hypomagnesemia	An abnormally decreased magnesium concentration in the blood.	SNOMEDCT_US:190855004|UMLS:C0151723	mondo.json	Low blood magnesium levels|Low blood Mg levels	http://purl.obolibrary.org/obo/HP_0002917		
MONDO:0021111	biolink:Disease	ureter neoplasm	A benign or malignant neoplasm that affects the ureter.	SCTID:126882009|ICD9:239.5|NCIT:C3427|EFO:0003844	mondo.json	neoplasms of ureter|ureter neoplasm|neoplasms of the ureter|tumor of ureter|neoplasm of the ureter|ureter neoplasm (disease)|ureteral tumor|ureteral neoplasm|neoplasm of ureter|ureter tumor|tumor of the ureter	http://purl.obolibrary.org/obo/MONDO_0021111	http://identifiers.org/snomedct/126882009|NCIT:C3427	
MONDO:0060752	biolink:Disease	neurodevelopmental disorder with spasticity and poor growth		OMIM:618076	mondo.json	neurodevelopmental disorder with spasticity and poor growth|NEDSG	http://purl.obolibrary.org/obo/MONDO_0060752	https://omim.org/entry/618076	
MONDO:0008135	biolink:Disease	optic atrophy 13 with retinal and foveal abnormalities		OMIM:165510|UMLS:C1833799|MESH:C563494	mondo.json	optic atrophy 13 with retinal and foveal abnormalities|optic atrophy with negative Electroretinograms	http://purl.obolibrary.org/obo/MONDO_0008135	https://omim.org/entry/165510|UMLS:C1833799|http://identifiers.org/mesh/C563494	
MONDO:0008132	biolink:Disease	optic atrophy with demyelinating disease of CNS		UMLS:C1833830|OMIM:165200|MESH:C563496|DOID:0111756	mondo.json	optic atrophy with demyelinating disease of CNS	http://purl.obolibrary.org/obo/MONDO_0008132	https://omim.org/entry/165200|UMLS:C1833830|DOID:0111756|http://identifiers.org/mesh/C563496	
MONDO:0021110	biolink:Disease	sweat gland adenoma	A benign epithelial neoplasm arising from the sweat glands. Representative examples include tubular apocrine adenoma, syringofibroadenoma, and hidradenoma.	NCIT:C7560|ICDO:8400/0	mondo.json	adenoma of the sweat gland|adenoma of sweat gland|sweat gland adenoma|adenoma, sweat gland, benign	http://purl.obolibrary.org/obo/MONDO_0021110	NCIT:C7560	
MONDO:0008133	biolink:Disease	optic atrophy 3		OMIM:165300|GARD:0010203|Orphanet:67036|MESH:C537128|SCTID:719517009|UMLS:C1833809|DOID:0111433	mondo.json	optic atrophy, cataract, and neurologic disorder|optic atrophy 3, autosomal dominant|autosomal dominant optic atrophy type 3|optic atrophy and cataract, autosomal dominant|OPA3|OPA3, autosomal dominant|optic atrophy 3 with cataract|optic atrophy 3	http://purl.obolibrary.org/obo/MONDO_0008133	https://omim.org/entry/165300|http://identifiers.org/mesh/C537128|UMLS:C1833809|http://identifiers.org/snomedct/719517009|Orphanet:67036|DOID:0111433	gard_rare|ordo_disease
MONDO:0011793	biolink:Disease	celiac disease, susceptibility to, 5		OMIM:607202	mondo.json	celiac disease, susceptibility to, 5|GSES|CELIAC5|gluten-sensitive enteropathy, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0011793	https://omim.org/entry/607202	predisposition
MONDO:0008130	biolink:Disease	ophthalmoplegia-intellectual disability-lingua scrotalis syndrome		MESH:C563498|Orphanet:2743|OMIM:165150|UMLS:C1833835|GARD:0003236	mondo.json	ophthalmoplegia-intellectual disability-lingua scrotalis syndrome|ophthalmoplegia, progressive, with scrotal tongue and mental deficiency|Levic-Stefanovic-Nikolic syndrome|Levic Stefanovic Nikolic syndrome	http://purl.obolibrary.org/obo/MONDO_0008130	https://omim.org/entry/165150|UMLS:C1833835|Orphanet:2743|http://identifiers.org/mesh/C563498	gard_rare|ordo_malformation_syndrome
MONDO:0060760	biolink:Disease	intellectual developmental disorder with dysmorphic facies and behavioral abnormalities		OMIM:618089	mondo.json	IDDFBA|INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioral abnormalities	http://purl.obolibrary.org/obo/MONDO_0060760	https://omim.org/entry/618089	
MONDO:0011792	biolink:Disease	thyroid dyshormonogenesis 6	Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene.	UMLS:C1846632|MESH:C564608|OMIM:607200	mondo.json	TDH6|thyroid dyshormonogenesis 6|DUOX2 familial thyroid dyshormonogenesis|thyroid hormonogenesis, genetic defect in, 6|familial thyroid dyshormonogenesis caused by mutation in DUOX2|thyroid dyshormonogenesis type 6|hypothyroidism, congenital, due to dyshormonogenesis, 6	http://purl.obolibrary.org/obo/MONDO_0011792	http://identifiers.org/mesh/C564608|https://omim.org/entry/607200|UMLS:C1846632	
MONDO:0008131	biolink:Disease	optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant		UMLS:C1833831|OMIM:165199|MESH:C563497	mondo.json	optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008131	https://omim.org/entry/165199|UMLS:C1833831|http://identifiers.org/mesh/C563497	
MONDO:0011795	biolink:Disease	anonychia-microcephaly syndrome	Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth.	SCTID:720494009|GARD:0000709|OMIM:607214|Orphanet:1094	mondo.json	total anonychia congenita and microcephaly|anonychia, total, with microcephaly|Teebi-Kaurah syndrome|anonychia total with microcephaly|total anonychia with microcephaly	http://purl.obolibrary.org/obo/MONDO_0011795	http://identifiers.org/snomedct/720494009|https://omim.org/entry/607214|Orphanet:1094	gard_rare|ordo_malformation_syndrome
MONDO:0011794	biolink:Disease	obsolete Dravet syndrome	OBSOLETE. Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment.	Orphanet:33069	mondo.json		http://purl.obolibrary.org/obo/MONDO_0011794	Orphanet:33069	ordo_disease
MONDO:0021109	biolink:Disease	inverted urothelial papilloma	An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas.	NCIT:C6192|UMLS:C1334282|ONCOTREE:IUP	mondo.json	inverted urothelial papilloma|urothelium inverted papilloma|IUP|urinary tract inverted papilloma|inverted papilloma of urinary tract	http://purl.obolibrary.org/obo/MONDO_0021109	UMLS:C1334282|NCIT:C6192	
MONDO:0011797	biolink:Disease	infantile-onset ascending hereditary spastic paralysis	Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.	MESH:C537217|UMLS:C2931441|SCTID:703543005|OMIM:607225|ICD9:343.8|GARD:0004914|Orphanet:293168	mondo.json	spastic paralysis, infantile-onset ascending|spastic paralysis, infantile onset ascending|IAHSP	http://purl.obolibrary.org/obo/MONDO_0011797	Orphanet:293168|UMLS:C2931441|https://omim.org/entry/607225|http://identifiers.org/snomedct/703543005|http://identifiers.org/mesh/C537217	ordo_disease|gard_rare
MONDO:0021108	biolink:Disease	meningitis	A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord.	SCTID:7180009|ICD9:322.9|NCIT:C26828	mondo.json	inflammation of meninx|meningitis|meninx inflammation|meningitis (disease)	http://purl.obolibrary.org/obo/MONDO_0021108	http://identifiers.org/snomedct/7180009|NCIT:C26828	
MONDO:0011796	biolink:Disease	epilepsy, partial, with pericentral spikes		UMLS:C1846609|MESH:C564605|OMIM:607221	mondo.json	Epps|epilepsy, partial, with pericentral spikes|PEPS	http://purl.obolibrary.org/obo/MONDO_0011796	http://identifiers.org/mesh/C564605|https://omim.org/entry/607221|UMLS:C1846609	
MONDO:0021107	biolink:Disease	narcolepsy	A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day.	SCTID:60380001|ICD9:347.00|UMLS:C0027404|MESH:D009290|DOID:8986|NCIT:C84489|OMIMPS:161400	mondo.json	narcolepsy, without cataplexy|narcolepsy|paroxysmal sleep	http://purl.obolibrary.org/obo/MONDO_0021107	UMLS:C0027404|DOID:8986|http://identifiers.org/mesh/D009290|http://identifiers.org/snomedct/60380001|https://omim.org/phenotypicSeries/PS161400|NCIT:C84489	
MONDO:0011799	biolink:Disease	autosomal recessive nonsyndromic hearing loss 33	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 10p11.23-q21.1.	UMLS:C1846576|OMIM:607239|MESH:C564602|DOID:0110492	mondo.json	autosomal recessive deafness 33|autosomal recessive nonsyndromic deafness type 33|deafness, autosomal recessive 33|autosomal recessive nonsyndromic deafness 33|DFNB33	http://purl.obolibrary.org/obo/MONDO_0011799	DOID:0110492|http://identifiers.org/mesh/C564602|https://omim.org/entry/607239|UMLS:C1846576	
MONDO:0011798	biolink:Disease	hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration		Orphanet:157855|OMIM:607236|MESH:C564603|UMLS:C1846582	mondo.json	harp syndrome|hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	http://purl.obolibrary.org/obo/MONDO_0011798	http://identifiers.org/mesh/C564603|Orphanet:157855|https://omim.org/entry/607236|UMLS:C1846582	
MONDO:0021106	biolink:Disease	laminopathy	A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina.	MESH:D000083083|Orphanet:98301|UMLS:CN236383	mondo.json		http://purl.obolibrary.org/obo/MONDO_0021106	Orphanet:98301|http://identifiers.org/mesh/D000083083|UMLS:CN236383	ordo_group_of_disorders|disease_grouping
MONDO:0011791	biolink:Disease	obsolete deafness, autosomal recessive			mondo.json		http://purl.obolibrary.org/obo/MONDO_0011791		
MONDO:0011790	biolink:Disease	Amish lethal microcephaly	Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.	MESH:C538247|UMLS:C1846648|OMIM:607196|Orphanet:99742|GARD:0008606|SCTID:702437000	mondo.json	MCPHA|Amish lethal microcephaly|microcephaly, Amish type|thiamine metabolism dysfunction syndrome 3 (microcephaly type)	http://purl.obolibrary.org/obo/MONDO_0011790	http://identifiers.org/snomedct/702437000|https://omim.org/entry/607196|UMLS:C1846648|http://identifiers.org/mesh/C538247|Orphanet:99742	ordo_malformation_syndrome|gard_rare
MONDO:0008149	biolink:Disease	osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures	An osteogenesis imperfecta found in a single South African family.	MESH:C563487|OMIM:166230|UMLS:C1833748|DOID:0110335	mondo.json	osteogenesis imperfecta with opalescent teeth, blue sclerae and WORMIAN bones, but without fractures	http://purl.obolibrary.org/obo/MONDO_0008149	https://omim.org/entry/166230|UMLS:C1833748|DOID:0110335|http://identifiers.org/mesh/C563487	
MONDO:0011779	biolink:Disease	laryngeal atresia, encephalocele, and limb deformities		OMIM:607132|UMLS:C1846721|MESH:C564620	mondo.json	Lel|laryngeal atresia, encephalocele, and limb deformities	http://purl.obolibrary.org/obo/MONDO_0011779	UMLS:C1846721|http://identifiers.org/mesh/C564620|https://omim.org/entry/607132	
MONDO:0021105	biolink:Disease	NAFLD1		OMIM:613282	mondo.json	liver disease, alcoholic, susceptibility to, 1|NAFLD1|fatty liver disease, nonalcoholic, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0021105	https://omim.org/entry/613282	predisposition
MONDO:0011778	biolink:Disease	multiple epiphyseal dysplasia, Al-Gazali type	Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism.	OMIM:607131|Orphanet:166024|ICD10CM:Q77.3|MESH:C564621|SCTID:719688002	mondo.json	multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|AGBK|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|Mmedf|AL-Gazali-BAKALINOVA syndrome|Al-Gazali-Bakalinova syndrome	http://purl.obolibrary.org/obo/MONDO_0011778	http://identifiers.org/mesh/C564621|http://identifiers.org/snomedct/719688002|https://omim.org/entry/607131|Orphanet:166024	ordo_disease
MONDO:0060745	biolink:Disease	intellectual developmental disorder with or without epilepsy or cerebellar ataxia		UMLS:CN252646|OMIM:618060	mondo.json	intellectual developmental disorder with or without epilepsy or cerebellar ataxia|IDDECA	http://purl.obolibrary.org/obo/MONDO_0060745	https://omim.org/entry/618060|UMLS:CN252646	
MONDO:0021104	biolink:Disease	alcoholic fatty liver disease	Lipid infiltration of the hepatic parenchymal cells that is due to alcohol abuse. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of triglycerides accumulated.	UMLS:C0015696|MESH:D005235|SCTID:50325005|ICD9:571.0|UMLS:C2718067	mondo.json	alcoholic fatty liver|alcoholic Steatohepatitis	http://purl.obolibrary.org/obo/MONDO_0021104	UMLS:C0015696|UMLS:C2718067|http://identifiers.org/mesh/D005235|http://identifiers.org/snomedct/50325005	
MONDO:0021103	biolink:Disease	obsolete collagen diseases	OBSOLETE. Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that 'collagen' was equivalent to 'connective tissue', but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term 'collagen diseases' now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494)	UMLS:C0009326|SCTID:81573002|DOID:854|MESH:D003095|ICD9:710.8|ICD9:710.9	mondo.json	collagen disorder|disease, collagen|collagen disease|diseases, collagen	http://purl.obolibrary.org/obo/MONDO_0021103	UMLS:C0009326|http://identifiers.org/snomedct/81573002|DOID:854|http://identifiers.org/mesh/D003095	
MONDO:0008147	biolink:Disease	osteogenesis imperfecta type 2	Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.	OMIM:610682|MESH:C536042|OMIM:259440|DOID:0110341|UMLS:CN536250|OMIM:610915|NCIT:C99001|GARD:0010142|OMIM:166210|Orphanet:216804|SCTID:86470003	mondo.json	osteogenesis imperfecta congenita|osteogenesis imperfecta type II|osteogenesis imperfecta type 2|Vrolik type of osteogenesis imperfecta|perinatal lethal osteogenesis imperfecta congenita|osteogenesis imperfecta, type 2|OI, type 2|OI2|osteogenesis imperfecta, type II|lethal osteogenesis imperfecta|OI type 2|osteogenesis imperfecta congenita, perinatal lethal form|Perinatally lethal OI|osteogenesis imperfecta congenita perinatal lethal form	http://purl.obolibrary.org/obo/MONDO_0008147	https://omim.org/entry/166210|Orphanet:216804|http://identifiers.org/mesh/C536042|NCIT:C99001|DOID:0110341|UMLS:CN536250|http://identifiers.org/snomedct/86470003	ordo_clinical_subtype
MONDO:0008148	biolink:Disease	osteogenesis imperfecta type 4	Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI).	SCTID:205497004|GARD:0008696|NCIT:C98576|OMIM:610968|OMIM:615220|OMIM:615066|OMIM:613849|DOID:0110340|Orphanet:216820|UMLS:C0268363|OMIM:616507|OMIM:610682|OMIM:613982|OMIM:259440|OMIM:166220|MESH:C536045	mondo.json	common variable OI with normal sclerae|osteogenesis imperfecta with normal sclera|osteogenesis imperfecta type IV|OI type 4|osteogenesis imperfecta, type 4|OI, type 4|osteogenesis imperfecta with normal sclerae|OI type IV|OI4|osteogenesis imperfecta, type IV	http://purl.obolibrary.org/obo/MONDO_0008148	http://identifiers.org/snomedct/205497004|UMLS:C0268363|https://omim.org/entry/166220|Orphanet:216820|http://identifiers.org/mesh/C536045|DOID:0110340|NCIT:C98576	ordo_clinical_subtype
MONDO:0021102	biolink:Disease	prostate phyllodes tumor	An unusual, biphasic benign or malignant neoplasm that arises from the prostate gland. It is characterized by the presence of an epithelial glandular component and a proliferating stroma.	Orphanet:498228|NCIT:C7574|GARD:0009404|UMLS:C1335409	mondo.json	cystosarcoma phyllodes of the prostate|malignant phyllodes tumor of prostate (subtype)|phyllodes tumor of prostate|phyllodes neoplasm of prostate|phyllodes neoplasm of the prostate|prostate phyllodes neoplasm|prostate gland phyllodes tumor|phyllodes tumor of the prostate|cystosarcoma phyllodes of prostate|prostate cystosarcoma phyllodes|prostate phyllodes tumor	http://purl.obolibrary.org/obo/MONDO_0021102	NCIT:C7574|Orphanet:498228|UMLS:C1335409	ordo_disease
MONDO:0008145	biolink:Disease	Ollier disease	A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.	NCIT:C3213|UMLS:C0024454|OMIM:166000|UMLS:CN203308|GARD:0007251|DOID:4624|UMLS:C0014084|MedDRA:10014642|SCTID:46041001|UMLS:C0206641|Orphanet:296|SCTID:268274005|NCIT:C3008	mondo.json	enchondromatosis, multiple, Ollier type|enchondromatosis with haemangiomata|osteochondromatosis|Ollier's disease|multiple cartilaginous enchondroses|dyschondroplasia|enchondromatosis|multiple enchondromatosis|Ollier disease|Ollier type enchondromatosis|enchondromatosis, multiple|Kast's syndrome	http://purl.obolibrary.org/obo/MONDO_0008145	UMLS:CN203308|https://omim.org/entry/166000|UMLS:C0014084|Orphanet:296|DOID:4624|UMLS:C0206641|http://identifiers.org/snomedct/268274005|NCIT:C3008	ordo_disease|gard_rare
MONDO:0021101	biolink:Disease	appendix L-cell glucagon-like peptide-producing neuroendocrine tumor	A neuroendocrine tumor arising from the wall of the appendix, producing glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.	DOID:8151|UMLS:C3274138|NCIT:C27445	mondo.json	appendiceal L-cell glucagon-like peptide-producing neuroendocrine tumor|L-cell glucagon-like peptide-producing neuroendocrine tumor of vermiform appendix|malignant appendiceal glucagonoma|appendix L-cell NET|appendix L-cell glucagon-like peptide-producing NET|malignant appendiceal L-cell glucagon-like peptide producing tumor|appendiceal L-cell glucagon-like peptide-producing NET|vermiform appendix L-cell glucagon-like peptide-producing neuroendocrine tumor|appendiceal L-cell glucagon-like peptide producing tumor|appendix L-cell glucagon-like peptide-producing neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0021101	NCIT:C27445|DOID:8151|UMLS:C3274138	
MONDO:0008146	biolink:Disease	osteogenesis imperfecta type 1	Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.	Orphanet:216796|GARD:0008694|SCTID:385482004|NCIT:C99003|UMLS:CN201103|OMIM:166200|UMLS:CN536249|DOID:0110334	mondo.json	osteogenesis imperfecta, type I|OI type 1|Van der Hoeve syndrome|osteogenesis imperfecta type 1|OI1|osteogenesis imperfecta tarda|osteogenesis imperfecta with blue sclerae|mild osteogenesis imperfecta|classic non-deforming OI with blue sclerae|OI, type 1|osteogenesis imperfecta, type 1|Adair-Dighton syndrome|osteogenesis imperfecta type I|non-deforming osteogenesis imperfecta	http://purl.obolibrary.org/obo/MONDO_0008146	https://omim.org/entry/166200|Orphanet:216796|http://identifiers.org/snomedct/385482004|UMLS:CN201103|NCIT:C99003|DOID:0110334|UMLS:CN536249	ordo_clinical_subtype
MONDO:0021100	biolink:Disease	breast neoplasm	A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males.	SCTID:126926005|NCIT:C2910|MESH:D001943|ONCOTREE:BREAST|UMLS:CN236627|EFO:0003869|ICD9:239.3	mondo.json	breast neoplasm (disease)|tumor of breast|neoplasm of the breast|breast neoplasm|neoplasm, breast|neoplasm of breast|breast tumor|tumor of the breast	http://purl.obolibrary.org/obo/MONDO_0021100	NCIT:C2910|http://identifiers.org/mesh/D001943|UMLS:CN236627|http://identifiers.org/snomedct/126926005	
MONDO:0008143	biolink:Disease	osteoarthritis susceptibility 1	Any osteoarthritis in which the cause of the disease is a mutation in the FRZB gene.	UMLS:C0029408|ICD9:715.98|SCTID:396275006|ICD9:715.90|OMIM:165720	mondo.json	osteoarthritis caused by mutation in FRZB|osteoarthritis susceptibility 1|Oa|osteoarthrosis|FRZB osteoarthritis|osteoarthritis susceptibility type 1|OS1|osteoarthritis of hip, female-specific, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0008143	https://omim.org/entry/165720	predisposition
MONDO:0008144	biolink:Disease	obsolete osteochondritis dissecans			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008144		
MONDO:0011782	biolink:Disease	angioid streaks	Small breaks in the elastin-filled tissue of the retina.	OMIM:607140|EFO:1000805|MESH:D000793|MedDRA:10066191|DOID:13401|UMLS:C0002982	mondo.json	angioid streaks	http://purl.obolibrary.org/obo/MONDO_0011782	http://identifiers.org/mesh/D000793|DOID:13401|https://omim.org/entry/607140|UMLS:C0002982	
MONDO:0008141	biolink:Disease	ossicular malformations, familial		GARD:0008184|UMLS:C1833790|OMIM:165680|MESH:C537142	mondo.json	familial middle ear ossicular anomalies|familial ossicular malformations|ossicular malformations, familial	http://purl.obolibrary.org/obo/MONDO_0008141	UMLS:C1833790|http://identifiers.org/mesh/C537142|https://omim.org/entry/165680	gard_rare
HGNC:12765	biolink:NamedThing	FOXN1			mondo.json		http://identifiers.org/hgnc/12765		
MONDO:0008142	biolink:Disease	Thiemann disease, familial form	Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.	SCTID:55166000|Orphanet:3314|ICD9:716.84|OMIM:165700|UMLS:C0264081|MESH:C537144|GARD:0004131	mondo.json	osteoarthropathy of fingers familial|Thiemann epiphyseal disease|Osteochondrosis of phalangeal epiphyses|aseptic necrosis of phalangeal epiphyses|THIEMANN disease|osteochondritis of phalangeal epiphyses|Thiemann's disease|osteoarthropathy of fingers, familial	http://purl.obolibrary.org/obo/MONDO_0008142	Orphanet:3314|http://identifiers.org/mesh/C537144|https://omim.org/entry/165700|UMLS:C0264081|http://identifiers.org/snomedct/55166000	ordo_disease
MONDO:0011781	biolink:Disease	spinocerebellar ataxia type 17	A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.	UMLS:C1833995|SCTID:719249005|OMIM:164700|UMLS:C1846707|MESH:C563505|MESH:C564616|DOID:0050967|GARD:0010469|Orphanet:98759|MESH:C565866|OMIM:213100|UMLS:C1859299|OMIM:607136	mondo.json	olivopontocerebellar atrophy 5|SCA17|spinocerebellar ataxia type 17|OPCA V|cerebelloparenchymal disorder II|SCA 17|OPCA with dementia and extrapyramidal signs|Huntington disease-like 4|CPD, late-onset recessive type|HDL4|spinocerebellar ataxia 17|CPD2|olivopontocerebellar atrophy type 5|olivopontocerebellar atrophy V	http://purl.obolibrary.org/obo/MONDO_0011781	Orphanet:98759|DOID:0050967|http://identifiers.org/mesh/C565866|http://identifiers.org/mesh/C564616|http://identifiers.org/mesh/C563505|UMLS:C1859299|http://identifiers.org/snomedct/719249005|https://omim.org/entry/607136|UMLS:C1846707|UMLS:C1833995	ordo_disease
MONDO:0011784	biolink:Disease	Moyamoya disease 2	Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene.	OMIM:607151|MESH:C536992|UMLS:C1846689	mondo.json	Moyamoya disease caused by mutation in RNF213|moyamoya disease 2, susceptibility to|Moyamoya disease type 2|Moyamoya disease 2|MYMY2|RNF213 Moyamoya disease	http://purl.obolibrary.org/obo/MONDO_0011784	http://identifiers.org/mesh/C536992|https://omim.org/entry/607151|UMLS:C1846689	
HGNC:12762	biolink:NamedThing	WFS1			mondo.json		http://identifiers.org/hgnc/12762		
MONDO:0011783	biolink:Disease	ALG12-congenital disorder of glycosylation	A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).	ICD9:271.8|MESH:C535745|Orphanet:79324|UMLS:C2931001|SCTID:711155008|GARD:0009833|DOID:0080559|OMIM:607143|NCIT:C126873	mondo.json	CDG syndrome type Ig|congenital disorder of glycosylation type Ig|ALG12-CDG|CDG1G|CDGIg|CDG 1G|ALG12-congenital disorder of glycosylation|CDG Ig|congenital disorder of glycosylation type 1g|CDG-Ig|carbohydrate deficient glycoprotein syndrome type Ig|mannosyltransferase 8 deficiency|congenital disorder of glycosylation, type Ig|ALG12-CDG (CDG-Ig)	http://purl.obolibrary.org/obo/MONDO_0011783	DOID:0080559|Orphanet:79324|http://identifiers.org/mesh/C535745|UMLS:C2931001|http://identifiers.org/snomedct/711155008|NCIT:C126873|https://omim.org/entry/607143	ordo_disease
MONDO:0008140	biolink:Disease	ossified ear cartilages		MESH:C563488|UMLS:C1833791|OMIM:165670	mondo.json	ossified ear cartilages	http://purl.obolibrary.org/obo/MONDO_0008140	UMLS:C1833791|https://omim.org/entry/165670|http://identifiers.org/mesh/C563488	
MONDO:0011786	biolink:Disease	allergic rhinitis	Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life.	EFO:0005854|UMLS:C2607914|DOID:4481|SCTID:61582004|ICD9:477.8|NCIT:C79532|ICD9:477.9|ICD9:477|HP:0003193|OMIM:607154	mondo.json	allergic rhinitis, susceptibility to|allergic form of rhinitis|pollenosis|atopic rhinitis|allergic rhinitis|seasonal allergic rhinitis|non-seasonal allergic rhinitis|Perenial allergic rhinitis|perennial allergic rhinitis|Alrh	http://purl.obolibrary.org/obo/MONDO_0011786	http://identifiers.org/snomedct/61582004|DOID:4481|https://omim.org/entry/607154|NCIT:C79532|UMLS:C2607914	
MONDO:0011785	biolink:Disease	hereditary spastic paraplegia 19	Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.	MESH:C536856|OMIM:607152|UMLS:C1846685|GARD:0009588|DOID:0110772|SCTID:763375003|Orphanet:100999	mondo.json	spastic paraplegia 19|hereditary spastic paraplegia type 19|autosomal dominant spastic paraplegia 19|autosomal dominant spastic paraplegia type 19|spastic paraplegia 19, autosomal dominant|SPG19	http://purl.obolibrary.org/obo/MONDO_0011785	http://identifiers.org/mesh/C536856|http://identifiers.org/snomedct/763375003|DOID:0110772|https://omim.org/entry/607152|Orphanet:100999|UMLS:C1846685	ordo_disease
HP:0002921	biolink:PhenotypicFeature	Abnormality of the cerebrospinal fluid	An abnormality of the cerebrospinal fluid (CSF).	UMLS:C0151583	mondo.json	Abnormal CSF findings|Abnormality of the CSF	http://purl.obolibrary.org/obo/HP_0002921		
MONDO:0011788	biolink:Disease	cloverleaf skull-multiple congenital anomalies syndrome	This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.	MESH:C564611|SCTID:717771007|OMIM:607161|Orphanet:93267|UMLS:C1846671	mondo.json	multiple congenital anomalies syndrome with cloverleaf skull	http://purl.obolibrary.org/obo/MONDO_0011788	http://identifiers.org/snomedct/717771007|http://identifiers.org/mesh/C564611|Orphanet:93267|https://omim.org/entry/607161|UMLS:C1846671	ordo_malformation_syndrome
MONDO:0011787	biolink:Disease	autosomal recessive limb-girdle muscular dystrophy type 2I	Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.	OMIM:607155|GARD:0012533|NCIT:C126739|Orphanet:34515|DOID:0110299|SCTID:718180000|MESH:C564612	mondo.json	MDDGC5|muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5|FKRP autosomal recessive limb-girdle muscular dystrophy|LGMD-FKRP related|limb-girdle muscular dystrophy due to FKRP deficiency|limb-girdle muscular dystrophy type 2I|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5|muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related|LGMD2I|muscular dystrophy limb-girdle type 2I|muscular dystrophy-dystroglycanopathy, limb-girdle, Frkp-related|autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP|muscular dystrophy, limb-girdle, type 2I	http://purl.obolibrary.org/obo/MONDO_0011787	DOID:0110299|http://identifiers.org/mesh/C564612|http://identifiers.org/snomedct/718180000|NCIT:C126739|https://omim.org/entry/607155|Orphanet:34515	ordo_disease
HGNC:12766	biolink:NamedThing	NSD2			mondo.json		http://identifiers.org/hgnc/12766		
MONDO:0023757	biolink:Disease	meralgia paresthetica	Meralgia paresthetica is a condition characterized by tingling, numbness and burning pain in the outer thigh. These symptoms may become worse after walking or standing. The condition generally only affects one side of the body, although both sides may be involved in up to 20% of cases. Meralgia paresthetica is caused by compression of the lateral femoral cutaneous nerve (a sensory nerve to the skin on the outer thigh). This may be associated with a variety of causes such as tight clothing, obesity, and/or pregnancy. Treatment is based on the signs and symptoms present in each person and may include medications to manage pain. In most cases, conservative treatment by wearing looser clothing and/or losing weight generally resolves symptoms.	UMLS:C0152110|SCTID:85007004|MESH:C537458|ICD9:355.1|GARD:0009417	mondo.json	lateral femoral cutaneous nerve entrapment|lateral cutaneous femoral nerve of thigh syndrome|compression of lateral cutaneous femoral nerve of thigh|meralgia paraesthetica familial (type)|Bernhardt-Roth syndrome|entrapment of lateral cutaneous nerve of thigh|bernhardt's paresthesia|bernhardt-rot syndrome	http://purl.obolibrary.org/obo/MONDO_0023757	http://identifiers.org/snomedct/85007004|http://identifiers.org/mesh/C537458|UMLS:C0152110	gard_rare
MONDO:0011780	biolink:Disease	specific language impairment 3		UMLS:C1846719|OMIM:607134	mondo.json	specific language impairment 3|specific language impairment quantitative trait locus on chromosome 13|SLI3|specific language impairment QTL, 3	http://purl.obolibrary.org/obo/MONDO_0011780	https://omim.org/entry/607134|UMLS:C1846719	
NCIT:C49165	biolink:NamedThing	Surgical Procedure by Method			mondo.json		http://purl.obolibrary.org/obo/NCIT_C49165		
MONDO:0021172	biolink:Disease	Timothy syndrome, atypical type	Atypical form of Timothy syndrome, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death.	Orphanet:595109|UMLS:C4304347|SCTID:719907006|ICD10CM:I49.8	mondo.json	ATS|Atypical LQT8|Timothy syndrome type 2 (disorder)|atypical Timothy syndrome	http://purl.obolibrary.org/obo/MONDO_0021172	UMLS:C4304347|Orphanet:595109|http://identifiers.org/snomedct/719907006	ordo_subtype_of_a_disorder
MONDO:0021171	biolink:Disease	Timothy syndrome, classic type	Classic form of Timothy syndrome, includes all features of generic.	ICD9:759.89|SCTID:699256006	mondo.json	Timothy syndrome type 1 (disorder)	http://purl.obolibrary.org/obo/MONDO_0021171	http://identifiers.org/snomedct/699256006	
NCIT:C49163	biolink:NamedThing	Surgical Procedure by Site or System			mondo.json		http://purl.obolibrary.org/obo/NCIT_C49163		
MONDO:0021170	biolink:Disease	obsolete amyotonia congenita		GARD:0005798	mondo.json	Oppenheim disease|amyotonia congenita|Oppenheim's disease	http://purl.obolibrary.org/obo/MONDO_0021170		gard_rare
MONDO:0035738	biolink:Disease	acquired factor VII deficiency		Orphanet:599495	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035738	Orphanet:599495	ordo_disorder
MONDO:0035737	biolink:Disease	acquired factor V deficiency		Orphanet:599490	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035737	Orphanet:599490	ordo_disorder
MONDO:0035736	biolink:Disease	acquired hemophilia B		Orphanet:599485	mondo.json	AHB	http://purl.obolibrary.org/obo/MONDO_0035736	Orphanet:599485	ordo_disorder
HP:0000316	biolink:PhenotypicFeature	Hypertelorism	Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).	SNOMEDCT_US:22006008|UMLS:C0020534|SNOMEDCT_US:194021007|MSH:D006972	mondo.json	Increased interpupillary distance|Excessive orbital separation|Increased distance between eye sockets|Wide-set eyes|Widened interpupillary distance|Increased distance between eyes|Ocular hypertelorism|Widely spaced eyes	http://purl.obolibrary.org/obo/HP_0000316		hposlim_core
HP:0002979	biolink:PhenotypicFeature	Bowing of the legs	A bending or abnormal curvature affecting a long bone of the leg.	MSH:D056305|SNOMEDCT_US:299331007|UMLS:C0544755	mondo.json	Bowed legs|Bowed lower limbs|Bow-leggedness|Bow legs	http://purl.obolibrary.org/obo/HP_0002979		
HP:0000315	biolink:PhenotypicFeature	Abnormality of the orbital region		UMLS:C4025863	mondo.json	Abnormality of the eye region|Malformation of the orbital region of the face|Deformity of the orbital region of the face|Anomaly of the orbital region of the face|Abnormality of the region around the eyes	http://purl.obolibrary.org/obo/HP_0000315		
HP:0002977	biolink:PhenotypicFeature	Aplasia/Hypoplasia involving the central nervous system	Absence or underdevelopment of tissue in the central nervous system.	UMLS:C4025665	mondo.json	Absent/underdeveloped central nervous system tissue|Aplasia/Hypoplasia involving the CNS	http://purl.obolibrary.org/obo/HP_0002977		
MONDO:0021179	biolink:Disease	proteostasis deficiencies	Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins.	UMLS:C2718001|MESH:D057165|UMLS:C2718000	mondo.json	disease, Protein Misfolding|Protein folding disorders|deficiency, Proteostasis|Proteostasis deficiency|disease, Protein folding|deficiencies, Proteostasis|Protein folding diseases|proteopathic disease|Protein Misfolding disease|dysfunction, Proteostasis|Misfolding disorders, Protein|folding disease, Protein|diseases, Protein Misfolding|Misfolding diseases, Protein|Protein Misfolding diseases|Protein folding disease|disorder, Protein folding|folding disorder, Protein|Proteostasis dysfunction|proteinopathy|disorders, Protein Misfolding|disorders, Protein folding|Protein folding disorder|folding disorders, Protein|disorder, Protein Misfolding|Proteostasis dysfunctions|dysfunctions, Proteostasis|proteopathy|Protein Misfolding disorders|diseases, Protein folding|Misfolding disorder, Protein|Protein Misfolding disorder|folding diseases, Protein|Misfolding disease, Protein	http://purl.obolibrary.org/obo/MONDO_0021179	http://identifiers.org/mesh/D057165|UMLS:C2718001	
HGNC:12726	biolink:NamedThing	VWF			mondo.json		http://identifiers.org/hgnc/12726		
NCIT:C25193	biolink:NamedThing	Occupation	The principal activity that a person does to earn money.		mondo.json	EMPJOB|Job|OCCUPATION|Occupation|Employee Job	http://purl.obolibrary.org/obo/NCIT_C25193		http://purl.obolibrary.org/obo/NCIT_C54447|http://purl.obolibrary.org/obo/NCIT_C54585|http://purl.obolibrary.org/obo/NCIT_C66830|http://purl.obolibrary.org/obo/NCIT_C103330|http://purl.obolibrary.org/obo/NCIT_C74559|http://purl.obolibrary.org/obo/NCIT_C61410
MONDO:0021178	biolink:Disease	injury	Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity.	NCIT:C3671|EFO:0000546|MESH:D014947	mondo.json	injury|trauma|wound|traumatic injury	http://purl.obolibrary.org/obo/MONDO_0021178	NCIT:C3671|http://identifiers.org/mesh/D014947	other_hierarchy|harrisons_view
MONDO:0021177	biolink:Disease	autoimmune hepatitis type 3	Autoimmune hepatitis characterized by the presence of antibodies to soluble liver or liver-pancreas antigens.	SCTID:721713007|UMLS:C4303162	mondo.json	autoimmune hepatitis type 3	http://purl.obolibrary.org/obo/MONDO_0021177	http://identifiers.org/snomedct/721713007|UMLS:C4303162	
MONDO:0008198	biolink:Disease	parietal foramina with cleidocranial dysplasia	Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.	OMIM:168550|MESH:C566825|Orphanet:251290|UMLS:C1868597	mondo.json	cleidocranial dysplasia with parietal foramina|parietal foramina with cleidocranial dysplasia|parietal foramina with clavicular hypoplasia|PFMCCD|parietal foramina with cleidocranial dysostosis	http://purl.obolibrary.org/obo/MONDO_0008198	UMLS:C1868597|http://identifiers.org/mesh/C566825|Orphanet:251290|https://omim.org/entry/168550	ordo_malformation_syndrome
MONDO:0021176	biolink:Disease	autoimmune hepatitis type 2	Autoimmune hepatitis characterized by the presence of anti-liver kidney microsomal antibody type 1 (anti-LKM1) and/or anti-liver cytosol type 1 (anti-LC1) autoantibodies.	SCTID:721712002|UMLS:C4303163|Orphanet:563581	mondo.json	type 2 AIH|autoimmune hepatitis type 2	http://purl.obolibrary.org/obo/MONDO_0021176	Orphanet:563581|UMLS:C4303163|http://identifiers.org/snomedct/721712002	
MONDO:0008199	biolink:Disease	late-onset Parkinson disease	A Parkinson disease that begins after around the age of 50.	DOID:0060892|SCTID:716662004|UMLS:C3160718|OMIM:168600|Orphanet:411602	mondo.json	hereditary late onset Parkinson disease|hereditary late-onset Parkinson disease|Parkinson disease, age of onset, modifier, Multifactorial|late onset Parkinson disease|LOPD|late-onset Parkinson disease|PD|late onset Parkinson's disease|autosomal dominant late-onset Parkinson disease|PARK|Parkinson disease, late-onset|Parkinson disease, susceptibility to, Multifactorial|Parkinson disease, late-onset, susceptibility to, Multifactorial	http://purl.obolibrary.org/obo/MONDO_0008199	Orphanet:411602|http://identifiers.org/snomedct/716662004|DOID:0060892|https://omim.org/entry/168600|UMLS:C3160718	ordo_disease
MONDO:0021175	biolink:Disease	herpetic vulvovaginitis	Infection of the vulva and the vagina caused by herpes simplex virus.	NCIT:C34697|SCTID:27420004|UMLS:C0019386|ICD9:054.11	mondo.json	Herpetic vulvovaginitis|herpetic vulvovaginitis|Herpetic Vulvovaginitis	http://purl.obolibrary.org/obo/MONDO_0021175	NCIT:C34697|http://identifiers.org/snomedct/27420004|UMLS:C0019386	
MONDO:0008196	biolink:Disease	parastremmatic dwarfism	Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.	SCTID:722210007|Orphanet:2646|GARD:0004222|MESH:C537172|OMIM:168400|DOID:0111539	mondo.json	parastremmatic dwarfism|Parastremmatic dysplasia	http://purl.obolibrary.org/obo/MONDO_0008196	DOID:0111539|http://identifiers.org/snomedct/722210007|https://omim.org/entry/168400|http://identifiers.org/mesh/C537172|Orphanet:2646	ordo_malformation_syndrome|gard_rare
MONDO:0008197	biolink:Disease	parietal foramina 1	Any parietal foramina in which the cause of the disease is a mutation in the MSX2 gene.	MESH:C566827|OMIM:168500	mondo.json	parietal foramina 1|foramina parietalia permagna|PFM1|cranium bifidum, hereditary|catlin Marks|parietal foramina caused by mutation in MSX2|PFM|parietal foramina|cranium bifidum occultum|MSX2 parietal foramina|parietal foramina, symmetric	http://purl.obolibrary.org/obo/MONDO_0008197	https://omim.org/entry/168500|http://identifiers.org/mesh/C566827	
HGNC:12731	biolink:NamedThing	WAS			mondo.json		http://identifiers.org/hgnc/12731		
MONDO:0008194	biolink:Disease	Paramolar tubercle of bolk		SCTID:78305006|OMIM:168200	mondo.json	bolk cusp|Paramolar tubercle of bolk	http://purl.obolibrary.org/obo/MONDO_0008194	https://omim.org/entry/168200|http://identifiers.org/snomedct/78305006	
CL:1000893	biolink:Cell	kidney venous blood vessel cell		KUPO:0001031	mondo.json		http://purl.obolibrary.org/obo/CL_1000893		
HP:0002970	biolink:PhenotypicFeature	Genu varum	A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.	MSH:D056305|SNOMEDCT_US:299331007|UMLS:C0544755	mondo.json	Genu vara|Outward bowing at knees|Genua vara|Outward bow-leggedness	http://purl.obolibrary.org/obo/HP_0002970		hposlim_core
MONDO:0008195	biolink:Disease	paramyotonia congenita of Von Eulenburg	Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3).	GARD:0007325|SCTID:41574007|OMIM:168300|NCIT:C122790|Orphanet:684|DOID:0111538|ICD9:359.29	mondo.json	paramyotonia congenita of Von Eulenburg|Von Eulenburg paramyotonia congenita|Eulenburg disease|paramyotonia congenita|paralysis periodica Paramyotonica|paramyotonia congenita without cold paralysis|PMC|paramyotonia congenita of VON Eulenburg|myotonia congenita intermittens	http://purl.obolibrary.org/obo/MONDO_0008195	https://omim.org/entry/168300|http://identifiers.org/snomedct/41574007|NCIT:C122790|Orphanet:684|DOID:0111538	ordo_disease
CL:1000892	biolink:Cell	kidney capillary endothelial cell		KUPO:0001030	mondo.json		http://purl.obolibrary.org/obo/CL_1000892		
MONDO:0008192	biolink:Disease	paragangliomas 1	Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene.	GARD:0007324|UMLS:C0007279|UMLS:C0017671|OMIM:168000	mondo.json	glomus jugulare tumors|chemodectomas|SDHD paraganglioma|paragangliomas type 1|paragangliomas 1, with or without deafness|paragangliomas, familial nonchromaffin, 1|Paragangliomata|paragangliomas 1|paragangliomas with sensorineural hearing loss|paraganglioma caused by mutation in SDHD|paragangliomas, familial, 1|PGL1|glomus tumors, familial, 1|carotid body tumors|paraganglioma, carotid body	http://purl.obolibrary.org/obo/MONDO_0008192	https://omim.org/entry/168000	
CL:1000891	biolink:Cell	kidney arterial blood vessel cell		KUPO:0001029	mondo.json		http://purl.obolibrary.org/obo/CL_1000891		
HGNC:12736	biolink:NamedThing	WIPF1			mondo.json		http://identifiers.org/hgnc/12736		
MONDO:0008193	biolink:Disease	paralysis agitans, juvenile, of Hunt		MESH:C562469|GARD:0010359|SCTID:43647007|ICD9:333.0|OMIM:168100	mondo.json	paralysis agitans, juvenile, of Hunt|Parkinson disease, juvenile, of Hunt	http://purl.obolibrary.org/obo/MONDO_0008193	https://omim.org/entry/168100|http://identifiers.org/mesh/C562469|http://identifiers.org/snomedct/43647007	gard_rare
MONDO:0008190	biolink:Disease	obsolete human papillomavirus type 18 integration site 1		OMIM:167959	mondo.json		http://purl.obolibrary.org/obo/MONDO_0008190	https://omim.org/entry/167959	
MONDO:0008191	biolink:Disease	obsolete human papillomavirus type 18 integration site 2		OMIM:167960	mondo.json		http://purl.obolibrary.org/obo/MONDO_0008191	https://omim.org/entry/167960	
MONDO:0035743	biolink:Disease	factor V amsterdam bleeding disorder		Orphanet:599579	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035743	Orphanet:599579	ordo_subtype_of_a_disorder
GO:0015171	biolink:NamedThing	amino acid transmembrane transporter activity	Enables the transfer of amino acids from one side of a membrane to the other. Amino acids are organic molecules that contain an amino group and a carboxyl group.		mondo.json	amino acid/choline transmembrane transporter activity|general amino acid permease activity|hydroxy/aromatic amino acid permease activity|amino acid permease activity|amino acid transporter activity	http://purl.obolibrary.org/obo/GO_0015171		
MONDO:0035742	biolink:Disease	factor V short isoforms-related bleeding disorder		Orphanet:599519	mondo.json	FV short isoforms-related bleeding disorder	http://purl.obolibrary.org/obo/MONDO_0035742	Orphanet:599519	ordo_disorder
MONDO:0035740	biolink:Disease	acquired factor XI deficiency		Orphanet:599507	mondo.json	aFXI	http://purl.obolibrary.org/obo/MONDO_0035740	Orphanet:599507	ordo_disorder
MONDO:0021163	biolink:Disease	kidney neoplasm	A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma.	ONCOTREE:KIDNEY|SCTID:126880001|NCIT:C3150|ICD9:239.5	mondo.json	renal tumor|neoplasm of kidney|kidney neoplasm (disease)|kidney tumor|tumor of the kidney|renal neoplasm|renal tumors|tumor of kidney|kidney neoplasm|neoplasm of the kidney	http://purl.obolibrary.org/obo/MONDO_0021163	NCIT:C3150|http://identifiers.org/snomedct/126880001	
MONDO:0021162	biolink:Disease	carotenemia		SCTID:35487009|DOID:9969|UMLS:C0154271|ICD9:278.3	mondo.json		http://purl.obolibrary.org/obo/MONDO_0021162	UMLS:C0154271	
NCBITaxon:945	biolink:OrganismalEntity	Ehrlichia chaffeensis		PMID:1757557|PMID:11760958|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_945		
MONDO:0021161	biolink:Disease	gonococcal prostatitis	An prostatitis (disease) caused by infection with Neisseria gonorrhoeae.	SCTID:197967000|UMLS:C0341755	mondo.json	Neisseria gonorrhoeae caused prostatitis (disease)|Neisseria gonorrhoeae prostatitis (disease)	http://purl.obolibrary.org/obo/MONDO_0021161	http://identifiers.org/snomedct/197967000|UMLS:C0341755	
MONDO:0021160	biolink:Disease	gonococcal cystitis	An cystitis caused by infection with Neisseria gonorrhoeae.	SCTID:197848003|UMLS:C0473230	mondo.json	Neisseria gonorrhoeae caused cystitis|Neisseria gonorrhoeae cystitis	http://purl.obolibrary.org/obo/MONDO_0021160	http://identifiers.org/snomedct/197848003|UMLS:C0473230	
HGNC:24725	biolink:NamedThing	FAM111A			mondo.json		http://identifiers.org/hgnc/24725		
NCBITaxon:948	biolink:OrganismalEntity	Anaplasma phagocytophilum		PMID:1115421|PMID:11760958|GC_ID:11|PMID:12215262|PMID:8195363	mondo.json	agent of human granulocytic ehrlichiosis|Cytoecetes phagocytophila|Ehrlichia equi|human granulocytic Ehrlichia|Ehrlichia phagocytophila (Foggie 1949) Philip 1962 (Approved Lists 1980)|Rickettsia phagocytophila ovis|Cytoecetes bovis|Anaplasma phagocytophila|Ehrlichia sp. 'HGE agent'|HGE agent	http://purl.obolibrary.org/obo/NCBITaxon_948		
MONDO:0021169	biolink:Disease	epithelioid hemangioma	A hemangioma characterized by the presence of epithelioid endothelial cells.	DOID:474|UMLS:C0205788|ICDO:9125/0|NCIT:C4298	mondo.json	epithelioid hemangioma|histiocytoid hemangioma|epithelioid haemangioma	http://purl.obolibrary.org/obo/MONDO_0021169	UMLS:C0205788|NCIT:C4298|DOID:474	
MONDO:0021168	biolink:Disease	hibernoma	A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults.	SCTID:404064001|NCIT:C3702|UMLS:C0205822|ICDO:8880/0	mondo.json	Brown fat neoplasm|fetal fat cell lipoma|hibernoma|Brown fat tumor|hibernoma, benign	http://purl.obolibrary.org/obo/MONDO_0021168	UMLS:C0205822|http://identifiers.org/snomedct/404064001|NCIT:C3702	
MONDO:0021167	biolink:Disease	myositis	An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue.	ICD9:728.9|DOID:633|MESH:D009220|EFO:0000783|SCTID:128496001|NCIT:C27578	mondo.json	muscle tissue inflammation|inflammatory disorder of muscle (disorder)|inflammatory disorder of muscle|inflammation of muscle tissue	http://purl.obolibrary.org/obo/MONDO_0021167	NCIT:C27578|http://identifiers.org/mesh/D009220|http://identifiers.org/snomedct/128496001|DOID:633	
NCBITaxon:943	biolink:OrganismalEntity	Ehrlichia		PMID:11414267|PMID:11760958|GC_ID:11	mondo.json	possibly "Donatienella" Rousselot 1948|Kurlovia|Nicollea|Cowdria|Rickettsia (subgen. Ehrlichia)|Ehrlichia (subgen. Cowdria)	http://purl.obolibrary.org/obo/NCBITaxon_943		
NCBITaxon:942	biolink:OrganismalEntity	Anaplasmataceae		PMID:11760958|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_942		
MONDO:0021166	biolink:Disease	inflammatory disease	A disease involving a pathogenic inflammatory response in the anatomical structure.	ICD9:799.89|NCIT:C93210|SCTID:128139000|UMLS:C1290884	mondo.json	inflammatory disease|anatomical structure inflammation|inflammatory disorder|inflammation of anatomical structure	http://purl.obolibrary.org/obo/MONDO_0021166	http://identifiers.org/snomedct/128139000|UMLS:C1290884|NCIT:C93210	harrisons_view
MONDO:0021165	biolink:Disease	Paget disease	A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum.	NCIT:C7073	mondo.json	Paget's cell neoplasm|Paget disease|Paget cell neoplasm|Paget's disease	http://purl.obolibrary.org/obo/MONDO_0021165	NCIT:C7073	
MONDO:0021164	biolink:Disease	posthitis	An inflammatory disease involving a pathogenic inflammatory response in the prepuce of penis.	UMLS:C0235640|SCTID:44318002	mondo.json	inflammation of prepuce of penis|prepuce of penis inflammation	http://purl.obolibrary.org/obo/MONDO_0021164	http://identifiers.org/snomedct/44318002|UMLS:C0235640	
HP:0002983	biolink:PhenotypicFeature	Micromelia	The presence of abnormally small extremities.	SNOMEDCT_US:74370006|UMLS:C0025995|MEDDRA:10027546	mondo.json	Smaller or shorter than typical limbs	http://purl.obolibrary.org/obo/HP_0002983		hposlim_core
HP:0002981	biolink:PhenotypicFeature	Abnormality of the calf	An abnormality of the calf, i.e. of the posterior part of the lower leg.	UMLS:C4021832	mondo.json	Abnormality of the calf	http://purl.obolibrary.org/obo/HP_0002981		
HGNC:12744	biolink:NamedThing	MLXIPL			mondo.json		http://identifiers.org/hgnc/12744		
HGNC:24717	biolink:NamedThing	PTCD3			mondo.json		http://identifiers.org/hgnc/24717		
MONDO:0021152	biolink:Disease	inherited	A characteristic of a disease in which the cause of the disease is a genetic problem inherited from either or both parents.	EFO:0004420	mondo.json	familial|genetic|hereditary|constitutitional genetic|inherited genetic	http://purl.obolibrary.org/obo/MONDO_0021152		
MONDO:0021151	biolink:Disease	non-genetic			mondo.json	non-genomic	http://purl.obolibrary.org/obo/MONDO_0021151		
MONDO:0021150	biolink:Disease	obsolete genetic characteristic			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021150		
MONDO:0060715	biolink:Disease	tumoral calcinosis, hyperphosphatemic, familial, 3		OMIM:617994	mondo.json	tumoral calcinosis, hyperphosphatemic, familial, 3|HFTC3	http://purl.obolibrary.org/obo/MONDO_0060715	https://omim.org/entry/617994	
MONDO:0035759	biolink:Disease	factor V atlanta bleeding disorder		Orphanet:600194	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035759	Orphanet:600194	ordo_subtype_of_a_disorder
MONDO:0060714	biolink:Disease	tumoral calcinosis, hyperphosphatemic, familial, 2		OMIM:617993	mondo.json	tumoral calcinosis, hyperphosphatemic, familial, 2|HFTC2	http://purl.obolibrary.org/obo/MONDO_0060714	https://omim.org/entry/617993	
MONDO:0060713	biolink:Disease	deafness, congenital heart defects, and posterior embryotoxon		OMIM:617992|MESH:C566604	mondo.json	deafnes, congenital heart defects, and posterior embryotoxon|DCHE	http://purl.obolibrary.org/obo/MONDO_0060713	https://omim.org/entry/617992|http://identifiers.org/mesh/C566604	
MONDO:0060712	biolink:Disease	obsolete developmental delay, intellectual disability, obesity, and dysmorphic features			mondo.json		http://purl.obolibrary.org/obo/MONDO_0060712		
MONDO:0021159	biolink:Disease	gonococcal salpingitis	An salpingitis caused by infection with Neisseria gonorrhoeae.	UMLS:C0341811|SCTID:237038001	mondo.json	Neisseria gonorrhoeae salpingitis|Neisseria gonorrhoeae caused salpingitis	http://purl.obolibrary.org/obo/MONDO_0021159	UMLS:C0341811|http://identifiers.org/snomedct/237038001	
MONDO:0021158	biolink:Disease	gonococcal epididymo-orchitis		SCTID:236772009|UMLS:C0341782	mondo.json		http://purl.obolibrary.org/obo/MONDO_0021158	UMLS:C0341782|http://identifiers.org/snomedct/236772009	
MONDO:0060711	biolink:Disease	Jaberi-Elahi syndrome		UMLS:CN244943|OMIM:617988	mondo.json	JABELS|Jaberi-Elahi syndrome	http://purl.obolibrary.org/obo/MONDO_0060711	UMLS:CN244943|https://omim.org/entry/617988	
MONDO:0021157	biolink:Disease	gonococcal cervicitis		UMLS:C0812378|SCTID:237083000	mondo.json	gonorrhea of cervix|gonorrhea of uterine cervix	http://purl.obolibrary.org/obo/MONDO_0021157	UMLS:C0812378|http://identifiers.org/snomedct/237083000	
MONDO:0021156	biolink:Disease	hypophysitis	Inflammation of the pituitary gland.	SCTID:237705001|NCIT:C12399|MESH:D000072659|UMLS:C0342409	mondo.json	pituitary|nervous system, pituitary|pituitary gland inflammation|hypophysis cerebri|gland, pituitary|hypophysis|hypophysitides|pituitary gland|inflammation of pituitary gland	http://purl.obolibrary.org/obo/MONDO_0021156	NCIT:C12399|http://identifiers.org/mesh/D000072659|UMLS:C0342409|http://identifiers.org/snomedct/237705001	
MONDO:0008178	biolink:Disease	inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1	A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia.	MESH:C563476|OMIM:167320|DOID:0111385|NCIT:C122663	mondo.json	lower motor neuron degeneration with Paget-like bone disease|IBMPFD1|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 1|inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1|pagetoid amyotrophic lateral sclerosis|multisystem proteinopathy 1|muscular dystrophy, limb-girdle, with Paget disease of bone	http://purl.obolibrary.org/obo/MONDO_0008178	NCIT:C122663|DOID:0111385|http://identifiers.org/mesh/C563476|https://omim.org/entry/167320	
MONDO:0008179	biolink:Disease	paroxysmal extreme pain disorder	Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation.	GARD:0012854|Orphanet:46348|MESH:C563475|NCIT:C125385|DOID:0111537|UMLS:C1833661|ICD9:349.89|SCTID:699190008|OMIM:167400	mondo.json	paroxysmal extreme pain disorder|rectal pain, familial|submandibular, ocular, and rectal pain with flushing|pain, submandibular, ocular, and rectal, with flushing|Pexpd|PEPD|familial rectal pain|familial rectal syndrome	http://purl.obolibrary.org/obo/MONDO_0008179	UMLS:C1833661|DOID:0111537|http://identifiers.org/mesh/C563475|http://identifiers.org/snomedct/699190008|NCIT:C125385|https://omim.org/entry/167400|Orphanet:46348	gard_rare|ordo_disease
MONDO:0021155	biolink:Disease	X-linked cone-rod dystrophy	X-linked form of cone-rod dystrophy.		mondo.json	cone-rod dystrophy, X-linked	http://purl.obolibrary.org/obo/MONDO_0021155		
MONDO:0008176	biolink:Disease	Paget disease of bone 3		GARD:0004191|UMLS:C4085252|OMIM:167250	mondo.json	Paget disease of bone type 3|Paget disease of bone 3|PDB3|Paget disease of bone, familial|familial Paget disease of bone	http://purl.obolibrary.org/obo/MONDO_0008176	UMLS:C4085252|https://omim.org/entry/167250	
MONDO:0021154	biolink:Disease	dermis disorder	A disease that involves the dermis.	UMLS:CN227618|Orphanet:79381	mondo.json	disease of dermis|other dermis disorder|disease or disorder of dermis|dermis disease|dermis disease or disorder|disorder of dermis	http://purl.obolibrary.org/obo/MONDO_0021154	UMLS:CN227618|Orphanet:79381	disease_grouping|ordo_group_of_disorders
MONDO:0008177	biolink:Disease	extramammary Paget disease	A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva.	GARD:0004192|MedDRA:10033366|NCIT:C3302|MedDRA:10068223|ICDO:8542/3|Orphanet:2800|ONCOTREE:EMPD|EFO:1000249|UMLS:C0030186|MESH:D010145|OMIM:167300	mondo.json	extramammary Paget disease|Paget's skin disease|Paget disease, EXTRAMAMMARY|Paget disease Extramammary|Paget's disease of skin|EMPD|Paget's disease of the skin|Extramammary Paget's disease|cutaneous Paget's disease	http://purl.obolibrary.org/obo/MONDO_0008177	Orphanet:2800|http://identifiers.org/mesh/D010145|https://omim.org/entry/167300|NCIT:C3302|UMLS:C0030186	ordo_disease
NCBITaxon:951	biolink:OrganismalEntity	Neorickettsia sennetsu		PMID:11594628|PMID:11760958|GC_ID:11|PMID:1736961	mondo.json	Rickettsia sennetsu|Ehrlichia sennetsu	http://purl.obolibrary.org/obo/NCBITaxon_951		
MONDO:0021153	biolink:Disease	obsolete genetic and acquired			mondo.json	somatic genetic	http://purl.obolibrary.org/obo/MONDO_0021153		
MONDO:0008174	biolink:Disease	pachyonychia congenita 2	Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene.	OMIM:167210	mondo.json	pachyonychia congenita, Jackson-Lawler type, formerly|pachyonychia congenita, Jackson-Lawler type|pachyonychia congenita type 2|PC2|pachyonychia congenita caused by mutation in KRT17|KRT17 pachyonychia congenita|pachyonychia congenita 2	http://purl.obolibrary.org/obo/MONDO_0008174	https://omim.org/entry/167210	
MONDO:0008175	biolink:Disease	pacman dysplasia	Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal.	OMIM:167220|Orphanet:1952|GARD:0004189|SCTID:722127006|UMLS:C1833676|MESH:C538095	mondo.json	epiphyseal stippling with osteoclastic hyperplasia|pacman dysplasia|Pacman syndrome|epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0008175	Orphanet:1952|https://omim.org/entry/167220|http://identifiers.org/snomedct/722127006|http://identifiers.org/mesh/C538095|UMLS:C1833676	ordo_malformation_syndrome|gard_rare
MONDO:0008172	biolink:Disease	hypertrophic osteoarthropathy, primary, autosomal dominant		UMLS:C2674695|OMIM:167100	mondo.json	pachydermoperiostosis, autosomal dominant|PDP, autosomal dominant|hypertrophic osteoarthropathy, primary, autosomal dominant|PHOAD|Pho, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008172	UMLS:C2674695|https://omim.org/entry/167100	
NCBITaxon:30727	biolink:OrganismalEntity	Cyprinoidei		GC_ID:1	mondo.json	Cyprinoidea	http://purl.obolibrary.org/obo/NCBITaxon_30727		
MONDO:0008173	biolink:Disease	pachyonychia congenita 1	Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene.	SCTID:39427000|OMIM:167200	mondo.json	pachyonychia congenita, Jadassohn-Lewandowsky type, formerly|pachyonychia congenita type 1|pachyonychia congenita, Jadassohn-Lewandowsky type|PC1|KRT16 pachyonychia congenita|pachyonychia congenita caused by mutation in KRT16|Jadassohn-Lewandowsky syndrome, formerly|Jadassohn-Lewandowsky syndrome|pachyonychia congenita 1	http://purl.obolibrary.org/obo/MONDO_0008173	https://omim.org/entry/167200|http://identifiers.org/snomedct/39427000	
MONDO:0008170	biolink:Disease	ovarian cancer	A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas.	NCIT:C7431|MESH:D010051|Orphanet:213500|ICD9:183.0|DOID:2394|GARD:0007295|SCTID:363443007|OMIM:167000	mondo.json	malignant neoplasm of the ovary|ovary neoplasm|primary ovarian cancer|ovarian cancer|ovarian malignant tumor|malignant tumour of ovary|malignant tumor of the ovary|cancer of ovary|malignant ovarian neoplasm|ovarian cancer, epithelial|malignant tumor of ovary|cancer of the ovary|ovarian cancer, somatic|ovary cancer|malignant ovarian tumor|ovarian neoplasm|tumor of the ovary|malignant neoplasm of ovary|malignant ovary neoplasm	http://purl.obolibrary.org/obo/MONDO_0008170	NCIT:C7431|http://identifiers.org/mesh/D010051|DOID:2394|https://omim.org/entry/167000|http://identifiers.org/snomedct/363443007|Orphanet:213500	
MONDO:0008171	biolink:Disease	nephrolithiasis	The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins.	MESH:D053040|SCTID:266556005|EFO:0004253|DOID:585|ICD9:592|EFO:0003845|NCIT:C114667|OMIM:167030|UMLS:C0392525|UMLS:C0156257	mondo.json	urolithiasis, calcium oxalate|renal calculi|kidney stone|calculus of kidney and ureter|kidney stones|nephrolithiasis, calcium oxalate|CAON|Stone - kidney/ureter	http://purl.obolibrary.org/obo/MONDO_0008171	http://identifiers.org/mesh/D053040|UMLS:C0156257|NCIT:C114667|http://identifiers.org/snomedct/266556005|UMLS:C0392525|DOID:585	
HGNC:12712	biolink:NamedThing	VPS33B			mondo.json		http://identifiers.org/hgnc/12712		
FOODON:00001854	biolink:NamedThing	fish food product analog			mondo.json		http://purl.obolibrary.org/obo/FOODON_00001854		
MONDO:0035764	biolink:Disease	idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance		Orphanet:567546	mondo.json	Secondary SRNS|Secondary steroid-resistant nephrotic syndrome|Idiopathic SSNS with secondary steroid resistance	http://purl.obolibrary.org/obo/MONDO_0035764	Orphanet:567546	ordo_disorder
MONDO:0035763	biolink:Disease	idiopathic non-lupus full-house nephropathy		Orphanet:567544	mondo.json	Idiopathic non-lupus FHN	http://purl.obolibrary.org/obo/MONDO_0035763	Orphanet:567544	ordo_disorder
GO:0015152	biolink:NamedThing	glucose-6-phosphate transmembrane transporter activity	Enables the transfer of glucose-6-phosphate from one side of a membrane to the other. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6.		mondo.json		http://purl.obolibrary.org/obo/GO_0015152		
MONDO:0021141	biolink:Disease	acquired		Orphanet:409941	mondo.json	not genetically inherited	http://purl.obolibrary.org/obo/MONDO_0021141	Orphanet:409941	
MONDO:0021140	biolink:Disease	congenital	A characteristic of a disease in which the disease is present at birth, regardless of cause.		mondo.json	inborn	http://purl.obolibrary.org/obo/MONDO_0021140		
NCBITaxon:967	biolink:OrganismalEntity	Spirillum		PMID:19625415|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_967		
MONDO:0060707	biolink:Disease	Ververi-Brady syndrome		UMLS:CN244927|OMIM:617982|Orphanet:580940	mondo.json	Ververi-Brady syndrome|VERBRAS	http://purl.obolibrary.org/obo/MONDO_0060707	https://omim.org/entry/617982|Orphanet:580940|UMLS:CN244927	
MONDO:0060704	biolink:Disease	neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures		OMIM:617977|UMLS:CN244929	mondo.json	neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures|NEDSBAS|Elhattab-Alkuraya syndrome	http://purl.obolibrary.org/obo/MONDO_0060704	https://omim.org/entry/617977|UMLS:CN244929	
MONDO:0060702	biolink:Disease	spondyloepimetaphyseal dysplasia, di rocco type		OMIM:617974|UMLS:CN244923	mondo.json	SEMDDR|spondyloepimetaphyseal dysplasia, Di Rocco type	http://purl.obolibrary.org/obo/MONDO_0060702	https://omim.org/entry/617974|UMLS:CN244923	
MONDO:0021149	biolink:Disease	genetic vs non-genetic etiology			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021149		
HGNC:12718	biolink:NamedThing	VRK1			mondo.json		http://identifiers.org/hgnc/12718		
MONDO:0021148	biolink:Disease	female reproductive system neoplasm	A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma.	EFO:1001331|NCIT:C3053|MESH:D005833|UMLS:C0017416	mondo.json	female reproductive organ neoplasm (disease)|tumor of female reproductive system|gynecologic neoplasm|neoplasm of the female reproductive system|gynecologic tumor|neoplasm of female reproductive system|female reproductive system neoplasm|female reproductive system tumor|tumor of the female reproductive system|neoplasm of female reproductive organ|female reproductive organ tumor|female reproductive system neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0021148	UMLS:C0017416|http://identifiers.org/mesh/D005833|NCIT:C3053	
MONDO:0021147	biolink:Disease	disorder of development or morphogenesis	Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development.	ICD10CM:Q00-Q99	mondo.json		http://purl.obolibrary.org/obo/MONDO_0021147	http://purl.bioontology.org/ontology/ICD10CM/Q00-Q99	harrisons_view
MONDO:0021146	biolink:Disease	headache disorder	Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)	SCTID:230461009|MESH:D020773	mondo.json	intractable headaches|headache, chronic daily|cephalgia syndromes|daily headache, chronic|chronic headaches|chronic headache|cephalgia syndrome|headaches, chronic daily|intractable headache|headache disorder|headache, intractable|daily headaches, chronic|syndrome, headache|headache, chronic|chronic daily headaches|headache syndrome|headaches, intractable|headache syndromes|chronic daily headache|headaches, chronic	http://purl.obolibrary.org/obo/MONDO_0021146	http://identifiers.org/mesh/D020773|http://identifiers.org/snomedct/230461009	
MONDO:0021145	biolink:Disease	obsolete disorder of genitourinary system	OBSOLETE. A disease that involves the genitourinary system.	ICD10CM:N00-N99|UMLS:C0080276|SCTID:42030000	mondo.json	genitourinary system disease|urogenital disease|urogenital disorder|disorder of the genitourinary system|genitourinary system disease or disorder|disorder of genitourinary system|syndrome of the genitourinary system|disease of genitourinary system|disease or disorder of genitourinary system	http://purl.obolibrary.org/obo/MONDO_0021145	http://identifiers.org/snomedct/42030000|UMLS:C0080276|http://purl.bioontology.org/ontology/ICD10CM/N00-N99	
MONDO:0008189	biolink:Disease	papillomatosis, florid, of nipple	A rare benign neoplasm that arises in the area of the nipple. Clinically, it usually presents as a tender erythematous crusting lesion with hardening of the nipple. Morphologically, there is proliferation of ducts lined with epithelial and myoepithelial cells and focal erosion of the epidermis.	NCIT:C4383|GARD:0010174|MESH:C537167|UMLS:C1868647|SCTID:237467005|OMIM:167950	mondo.json	florid papillomatosis|papillomatosis, florid, of nipple|erosive adenomatosis of nipple|erosive nipple adenomatosis|florid papillomatosis of the nipple|erosive adenomatosis of the nipple|papillomatosis florid of nipple	http://purl.obolibrary.org/obo/MONDO_0008189	UMLS:C1868647|NCIT:C4383|http://identifiers.org/snomedct/237467005|https://omim.org/entry/167950|http://identifiers.org/mesh/C537167	gard_rare
HP:0000309	biolink:PhenotypicFeature	Abnormality of the midface	An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.	UMLS:C4021811	mondo.json	Anomaly of the midface|Deformity of the midface|Malformation of the midface|Abnormality of the midface	http://purl.obolibrary.org/obo/HP_0000309		
MONDO:0021144	biolink:Disease	ovarian clear cell tumor	A benign, borderline, or malignant epithelial tumor of the ovary that is characterized by a predominance of clear and hobnail cells.	NCIT:C40076|ONCOTREE:CCOV|UMLS:C0346164	mondo.json	ovarian clear cell neoplasm|clear cell ovarian cancer|ovarian clear cell tumor	http://purl.obolibrary.org/obo/MONDO_0021144	UMLS:C0346164|NCIT:C40076	
MONDO:0021143	biolink:Disease	melanocytic neoplasm		SCTID:399956005|UMLS:C1302746|MESH:D018326|NCIT:C7058	mondo.json	melanocytic neoplasm|melanomas and nevi	http://purl.obolibrary.org/obo/MONDO_0021143	http://identifiers.org/mesh/D018326|http://identifiers.org/snomedct/399956005|NCIT:C7058|UMLS:C1302746	
MONDO:0008187	biolink:Disease	panic disorder 1		OMIM:167870	mondo.json	panic disorder|panic disorder 1|panic disorder susceptibility locus, chromosome 13Q-related|panic disorder with bladder conditions|panic disorder with Joint laxity|panic disorder syndrome 1|PAND1|panic disorder, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0008187	https://omim.org/entry/167870	
MONDO:0008188	biolink:Disease	papillomatosis, confluent and reticulated		OMIM:167900|UMLS:C0263385|MESH:C566832	mondo.json	papillomatosis, familial cutaneous|papillomatosis, reticulated and confluent, of Gougerot and Carteaud|papillomatosis, confluent and reticulated|carp	http://purl.obolibrary.org/obo/MONDO_0008188	http://identifiers.org/mesh/C566832|UMLS:C0263385|https://omim.org/entry/167900	
MONDO:0021142	biolink:Disease	acquired rippling muscle disease	The acquired form of RMD. Although RMD most often is reported with autosomal dominant inheritance, some sporadic cases are found, and an association with other diseases such as myasthenia gravis has also been reported.		mondo.json	sporadic rippling muscle disease|acquired rippling muscle disease	http://purl.obolibrary.org/obo/MONDO_0021142		
MONDO:0008185	biolink:Disease	hereditary chronic pancreatitis	Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas.	SCTID:68072000|NCIT:C95436|GARD:0006632|ICD9:577.8|OMIM:167800|MESH:C537262|Orphanet:676	mondo.json	pancreatitis, chronic, protection against|autosomal dominant hereditary pancreatitis|pancreatitis, chronic pancreatitis, chronic, susceptibility to, included|Hp|pancreatitis, chronic, susceptibility to|pancreatitis, hereditary|hereditary pancreatitis|familial pancreatitis|pancreatitis, calcific, included|PCTT|hereditary chronic pancreatitis|pancreatitis, chronic, protection against, included|pancreatitis, calcific|HPC|pancreatitis, chronic	http://purl.obolibrary.org/obo/MONDO_0008185	Orphanet:676|http://identifiers.org/snomedct/68072000|https://omim.org/entry/167800|NCIT:C95436|http://identifiers.org/mesh/C537262	ordo_disease|gard_rare|predisposition
HP:0002960	biolink:PhenotypicFeature	Autoimmunity	The occurrence of an immune reaction against the organism's own cells or tissues.	UMLS:C0004364|MSH:D001327|SNOMEDCT_US:85828009	mondo.json	Autoimmune disease|Autoimmune disorder|Autoimmunity|Autoimmune condition	http://purl.obolibrary.org/obo/HP_0002960		
MONDO:0008186	biolink:Disease	pancytopenia and occlusive vascular disease		UMLS:C1868652|MESH:C566836|OMIM:167850	mondo.json	pancytopenia and occlusive vascular disease	http://purl.obolibrary.org/obo/MONDO_0008186	http://identifiers.org/mesh/C566836|UMLS:C1868652|https://omim.org/entry/167850	
MONDO:0008183	biolink:Disease	annular pancreas	Annular pancreas is a distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum.	MedDRA:10071757|NCIT:C98813|MESH:C536376|ICD10CM:Q45.1|GARD:0000705|Orphanet:675|OMIM:167750|SCTID:40315008|UMLS:C0149955|DOID:0060850	mondo.json	pancreas, annular	http://purl.obolibrary.org/obo/MONDO_0008183	Orphanet:675|NCIT:C98813|DOID:0060850|UMLS:C0149955|https://omim.org/entry/167750|http://purl.bioontology.org/ontology/ICD10CM/Q45.1|http://identifiers.org/snomedct/40315008|http://identifiers.org/mesh/C536376	gard_rare|ordo_morphological_anomaly
MONDO:0008184	biolink:Disease	pancreas, dorsal, agenesis of		GARD:0004203|OMIM:167755|UMLS:C1868659|MESH:C538109	mondo.json	agenesis of the dorsal pancreas|pancreas, dorsal, agenesis of|complete agenesis of the dorsal pancreas|congenital short pancreas|pancreas agenesis, dorsal|partial agenesis of the dorsal pancreas	http://purl.obolibrary.org/obo/MONDO_0008184	UMLS:C1868659|https://omim.org/entry/167755|http://identifiers.org/mesh/C538109	
CHEBI:134179	biolink:ChemicalSubstance	volatile organic compound	Any organic compound having an initial boiling point less than or equal to 250 degreeC (482 degreeF) measured at a standard atmospheric pressure of 101.3 kPa.		mondo.json	VOC|VOCs|volatile organic compounds	http://purl.obolibrary.org/obo/CHEBI_134179		
HP:0000301	biolink:PhenotypicFeature	Abnormality of facial musculature	An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).	UMLS:C4025865	mondo.json	Facial muscle issue|Abnormality of facial muscles	http://purl.obolibrary.org/obo/HP_0000301		
MONDO:0008181	biolink:Disease	palmaris longus muscle, absence of		OMIM:167600	mondo.json	palmaris longus muscle, absence of	http://purl.obolibrary.org/obo/MONDO_0008181	https://omim.org/entry/167600	
MONDO:0008182	biolink:Disease	nasopalpebral lipoma-coloboma syndrome	Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.	MESH:C538338|UMLS:C1868660|GARD:0003927|SCTID:723411003|Orphanet:2399|OMIM:167730	mondo.json	palpebral coloboma-lipoma syndrome|NASOPALPEBRAL lipoma-coloboma syndrome|NPLCS|palpebral coloboma lipoma syndrome|Nasopalpebral lipoma coloboma syndrome|nasopalpebral lipoma-coloboma syndrome	http://purl.obolibrary.org/obo/MONDO_0008182	UMLS:C1868660|http://identifiers.org/snomedct/723411003|https://omim.org/entry/167730|Orphanet:2399|http://identifiers.org/mesh/C538338	ordo_malformation_syndrome|gard_rare
HGNC:12723	biolink:NamedThing	VSX1			mondo.json		http://identifiers.org/hgnc/12723		
MONDO:0008180	biolink:Disease	congenital velopharyngeal incompetence	Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech.	MESH:D014681|Orphanet:2291|UMLS:C0042454|OMIM:167500|GARD:0005470	mondo.json	palatopharyngeal incompetence|velopharyngeal incompetence|velopharyngeal insufficiency	http://purl.obolibrary.org/obo/MONDO_0008180	https://omim.org/entry/167500|Orphanet:2291|http://identifiers.org/mesh/D014681|UMLS:C0042454	ordo_malformation_syndrome
MONDO:0021139	biolink:Disease	congenital or acquired			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021139		
MONDO:0033116	biolink:Disease	spinocerebellar ataxia, autosomal recessive 26		OMIM:617633|DOID:0080260|UMLS:CN417133	mondo.json	SCAR26|autosomal recessive spinocerebellar ataxia 26|spinocerebellar ataxia, autosomal recessive 26	http://purl.obolibrary.org/obo/MONDO_0033116	https://omim.org/entry/617633|UMLS:CN417133|DOID:0080260	
MONDO:0035777	biolink:Disease	parenteral nutrition-associated cholestasis	A rare hepatic disease characterized by intrahepatic cholestasis and deterioration of liver function in patients receiving parenteral nutrition for extended periods of time (signs may appear as early as within the first two weeks of initiation of parenteral nutrition). The condition commonly occurs in neonates and usually resolves with transition to enteral feeding, although severe cases may progress to liver fibrosis, cirrhosis, and portal hypertension.	Orphanet:567983	mondo.json	PNAC	http://purl.obolibrary.org/obo/MONDO_0035777	Orphanet:567983	ordo_disorder
MONDO:0033115	biolink:Disease	spinocerebellar ataxia, autosomal recessive 25		OMIM:617584|UMLS:CN349871|DOID:0080259	mondo.json	autosomal recessive spinocerebellar ataxia 25|spinocerebellar ataxia, autosomal recessive 25|SCAR25	http://purl.obolibrary.org/obo/MONDO_0033115	https://omim.org/entry/617584|UMLS:CN349871|DOID:0080259	
MONDO:0035776	biolink:Disease	combined deficiency of factor VII and factor X		Orphanet:600691	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035776	Orphanet:600691	ordo_disorder
MONDO:0035775	biolink:Disease	CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome		Orphanet:600668	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035775	Orphanet:600668	ordo_disorder
MONDO:0035774	biolink:Disease	NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance	A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common.	Orphanet:600663	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035774	Orphanet:600663	ordo_disorder
CHEBI:30527	biolink:ChemicalSubstance	flavin	A derivative of the dimethylisoalloxazine (7,8-dimethylbenzo[g]pteridine-2,4(3H,10H)-dione) skeleton, with a substituent on the 10 position.		mondo.json	flavins|Flavin	http://purl.obolibrary.org/obo/CHEBI_30527		
MONDO:0011724	biolink:Disease	encephalopathy due to GLUT1 deficiency	Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.	MESH:C536830|EFO:0009139|UMLS:C1847501|Orphanet:71277|GARD:0009265|OMIM:606777|UMLS:CN030711	mondo.json	glut-1 deficiency syndrome|glucose transporter protein syndrome|GLUT1-DS|encephalopathy due to GLUT1 deficiency|glucose transport defect, blood-brain barrier|G1D|glucose transporter type 1 deficiency syndrome|GLUT1 deficiency syndrome type 1|GLUT1 deficiency syndrome|GLUT1 deficiency syndrome 1, infantile onset, severe|glucose Transport defect, blood-brain barrier|GLUT1 DS|GLUT1 deficiency syndrome 1|glucose transporter type1 (glut-1) deficiency|glucose transporter Protein syndrome|De Vivo disease|glucose TRANSPORT defect, blood-brain barrier GLUT1 deficiency syndrome 1, autosomal recessive, included|GLUT1DS1|GLUT1 deficiency syndrome 1, autosomal recessive|glucose transporter type 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0011724	UMLS:CN030711|UMLS:C1847501|https://omim.org/entry/606777|Orphanet:71277|http://identifiers.org/mesh/C536830	gard_rare|ordo_disease
MONDO:0011723	biolink:Disease	hemifacial myohyperplasia	Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape. Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side. Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities.	OMIM:606773|SCTID:699420006|GARD:0010084|ICD9:744.89|Orphanet:141148|MESH:C535862	mondo.json	hemifacial myohyperplasia|hypertrophy and asymmetry of the facial muscles|HMH	http://purl.obolibrary.org/obo/MONDO_0011723	http://identifiers.org/mesh/C535862|http://identifiers.org/snomedct/699420006|Orphanet:141148|https://omim.org/entry/606773	gard_rare|ordo_malformation_syndrome
MONDO:0011726	biolink:Disease	peripheral arterial occlusive disease 1		OMIM:606787|MESH:C564658|UMLS:C1847493	mondo.json	peripheral arterial occlusive disease type 1|Paod1|peripheral arterial occlusive disease 1	http://purl.obolibrary.org/obo/MONDO_0011726	http://identifiers.org/mesh/C564658|UMLS:C1847493|https://omim.org/entry/606787	
MONDO:0011725	biolink:Disease	Crigler-Najjar syndrome type 2	Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1.	MESH:C536213|OMIM:606785|Orphanet:79235|UMLS:C2931132|GARD:0008683|SCTID:68067009|MedDRA:10011387	mondo.json	hyperbilirubinemia, Crigler-Najjar type 2|Crigler Najjar syndrome, type 2|bilirubin-UGT deficiency type 2|Crigler-Najjar syndrome, type 2|Arias syndrome|bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2|UGT deficiency type 2|hereditary unconjugated hyperbilirubinemia type 2|Crigler-Najjar syndrome, type II	http://purl.obolibrary.org/obo/MONDO_0011725	Orphanet:79235|http://identifiers.org/snomedct/68067009|UMLS:C2931132|https://omim.org/entry/606785|http://identifiers.org/mesh/C536213	ordo_clinical_subtype|gard_rare
GO:0042762	biolink:NamedThing	regulation of sulfur metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving sulfur, the nonmetallic element sulfur or compounds that contain sulfur.		mondo.json	regulation of sulfur metabolism|regulation of sulphur metabolism|regulation of sulphur metabolic process	http://purl.obolibrary.org/obo/GO_0042762		
MONDO:0011728	biolink:Disease	blepharospasm	Involuntary twitching of the eyelid.	UMLS:C0005747|MESH:D001764|ICD10CM:G24.5|GARD:0005909|OMIM:606798|SCTID:59026006|DOID:529|ICD9:333.81	mondo.json	blepharospasm, benign essential, susceptibility to|blepharospasm, benign essential|blepharospasm, primary benign|benign essential blepharospasm|BEB	http://purl.obolibrary.org/obo/MONDO_0011728	http://purl.bioontology.org/ontology/ICD10CM/G24.5|UMLS:C0005747|http://identifiers.org/snomedct/59026006|https://omim.org/entry/606798|http://identifiers.org/mesh/D001764|DOID:529	
MONDO:0011727	biolink:Disease	anorexia nervosa, susceptibility to, 1		OMIM:606788|UMLS:CN244557	mondo.json	ANON1|anorexia nervosa, susceptibility to|anorexia nervosa, susceptibility to, 1|anon|AN	http://purl.obolibrary.org/obo/MONDO_0011727	UMLS:CN244557|https://omim.org/entry/606788	predisposition
CL:1000854	biolink:Cell	kidney blood vessel cell		KUPO:0001014	mondo.json		http://purl.obolibrary.org/obo/CL_1000854		
MONDO:0011729	biolink:Disease	stroke, susceptibility to, 1		OMIM:606799	mondo.json	stroke, susceptibility to, 1|stroke, susceptibility to, type 1|Strk1	http://purl.obolibrary.org/obo/MONDO_0011729	https://omim.org/entry/606799	predisposition
CL:0000881	biolink:Cell	perivascular macrophage	A central nervous system macrophage found in small blood vessels in the brain. Markers include CD14+CD16+CD163+.		mondo.json		http://purl.obolibrary.org/obo/CL_0000881		
MONDO:0011731	biolink:Disease	glucose-galactose malabsorption	Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period.	GARD:0006521|MESH:C562602|Orphanet:35710|MedDRA:10066388|OMIM:606824|ICD9:271.3|SCTID:190749000	mondo.json	glucose-galactose malabsorption|glucose/galactose malabsorption|carbohydrate intolerance of glucose galactose|Complex carbohydrate intolerance|SGLT1 deficiency|GGM|glucose galactose malabsorption deficiency|monosaccharide malabsorption	http://purl.obolibrary.org/obo/MONDO_0011731	http://identifiers.org/snomedct/190749000|http://identifiers.org/mesh/C562602|Orphanet:35710|https://omim.org/entry/606824	ordo_disease|gard_rare
MONDO:0011730	biolink:Disease	fumaric aciduria	Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.	Orphanet:24|GARD:0006476|SCTID:237983002|DOID:0111261|OMIM:606812|MESH:C538191|UMLS:C2936826|ICD9:282.3	mondo.json	fumaric aciduria|fumarate hydratase deficiency|FMRD|fumarase deficiency	http://purl.obolibrary.org/obo/MONDO_0011730	Orphanet:24|http://identifiers.org/snomedct/237983002|http://identifiers.org/mesh/C538191|https://omim.org/entry/606812|UMLS:C2936826|DOID:0111261	ordo_disease
MONDO:0011733	biolink:Disease	parasomnia, sleep bruxism type		OMIM:606840|GARD:0010195|MESH:C536389	mondo.json	PSMNSB|parasomnia, sleep bruxism type|nocturnal facio-mandibular myoclonus|faciomandibular myoclonus, nocturnal|parasomnia, Sleeptalking type	http://purl.obolibrary.org/obo/MONDO_0011733	https://omim.org/entry/606840|http://identifiers.org/mesh/C536389	
MONDO:0011732	biolink:Disease	familial digital arthropathy-brachydactyly	Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.	Orphanet:85169|MESH:C564656|UMLS:C1847406|OMIM:606835	mondo.json	FDAB|digital arthropathy-brachydactyly, familial	http://purl.obolibrary.org/obo/MONDO_0011732	UMLS:C1847406|https://omim.org/entry/606835|Orphanet:85169|http://identifiers.org/mesh/C564656	ordo_malformation_syndrome
CHEBI:17544	biolink:ChemicalSubstance	hydrogencarbonate	The carbon oxoanion resulting from the removal of a proton from carbonic acid.		mondo.json	Hydrogencarbonate|[CO2(OH)](-)|hydrogencarbonate|hydrogen(trioxidocarbonate)(1-)|BICARBONATE ION|hydroxidodioxidocarbonate(1-)|hydrogen carbonate|HCO3(-)|hydrogentrioxocarbonate(1-)|hydrogentrioxocarbonate(IV)|Acid carbonate|hydrogencarbonate(1-)|Bicarbonate|HCO3-	http://purl.obolibrary.org/obo/CHEBI_17544		
MONDO:0023704	biolink:Disease	Martinez Monasterio Pinheiro syndrome	A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. This is an n-of-1 use case where only one patient or family has been described with this disorder.	MESH:C536027|UMLS:C2931089|GARD:0003404	mondo.json	cleft lip-palate-oligodontia-syndactyly-hair alterations|cleft lip/palate oligodontia syndactyly hair alterations	http://purl.obolibrary.org/obo/MONDO_0023704	UMLS:C2931089|http://identifiers.org/mesh/C536027	n_of_one|gard_rare
HGNC:3247	biolink:NamedThing	EHHADH			mondo.json		http://identifiers.org/hgnc/3247		
NCBITaxon:39107	biolink:OrganismalEntity	Murinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_39107		
MONDO:0035707	biolink:Disease	blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome		Orphanet:597746	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035707	Orphanet:597746	ordo_disorder
MONDO:0035706	biolink:Disease	SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome		Orphanet:597743	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035706	Orphanet:597743	ordo_disorder
CL:1000849	biolink:Cell	kidney distal convoluted tubule epithelial cell		KUPO:0001056	mondo.json		http://purl.obolibrary.org/obo/CL_1000849		
MONDO:0011713	biolink:Disease	melanoma-pancreatic cancer syndrome		OMIM:606719|MESH:C563985	mondo.json	familial atypical multiple Mole melanoma-pancreatic carcinoma syndrome|melanoma-pancreatic cancer syndrome	http://purl.obolibrary.org/obo/MONDO_0011713	http://identifiers.org/mesh/C563985|https://omim.org/entry/606719	
MONDO:0011712	biolink:Disease	van der Woude syndrome 2	Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene.	UMLS:C1847604|MESH:C536529|GARD:0007846|OMIM:606713	mondo.json	Van Der Woude syndrome type 2|van der Woude syndrome caused by mutation in GRHL3|VAN DER Woude syndrome 2|van der Woude syndrome 2|GRHL3 van der Woude syndrome|VWS2	http://purl.obolibrary.org/obo/MONDO_0011712	UMLS:C1847604|https://omim.org/entry/606713|http://identifiers.org/mesh/C536529	gard_rare
MONDO:0011715	biolink:Disease	Seckel syndrome 2	Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene.	DOID:0070013|MESH:C537534|UMLS:C1847572|OMIM:606744	mondo.json	Seckel syndrome type 2|Seckel syndrome 2|Seckel-type dwarfism 2|microcephalic primordial dwarfism 2|RBBP8 Seckel syndrome|SCKL2|Seckel syndrome caused by mutation in RBBP8	http://purl.obolibrary.org/obo/MONDO_0011715	DOID:0070013|UMLS:C1847572|https://omim.org/entry/606744|http://identifiers.org/mesh/C537534	
MONDO:0011714	biolink:Disease	partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome		OMIM:606721|UMLS:C3807567	mondo.json	lipodystrophy, partial, with congenital cataracts and neurodegeneration|partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome|lipodystrophy, familial partial, type 7|LCCNS	http://purl.obolibrary.org/obo/MONDO_0011714	UMLS:C3807567|https://omim.org/entry/606721	
MONDO:0011717	biolink:Disease	hyperinsulinism-hyperammonemia syndrome	Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.	Orphanet:35878|UMLS:C1847555|NCIT:C131832|GARD:0009931|OMIM:606762|MESH:C538375|DOID:0070217	mondo.json	HHF6|hyperinsulinism hyperammonemia syndrome|hyperinsulinemic hypoglycemia, familial, type 6|glutamate dehydrogenase 1 hyperinsulinism|hyperinsulinemic hypoglycemia, familial, 6|hyperinsulinism-hyperammonemia syndrome|hi/HA syndrome|HA/hi syndrome|hyperinsulinism/hyperammonemia syndrome|GLUD1 hyperinsulinism|hyperinsulinemic hypoglycemia familial 6|GDH hyperinsulinism	http://purl.obolibrary.org/obo/MONDO_0011717	NCIT:C131832|DOID:0070217|UMLS:C1847555|Orphanet:35878|http://identifiers.org/mesh/C538375|https://omim.org/entry/606762	gard_rare|ordo_disease
MONDO:0011716	biolink:Disease	acute hemorrhagic leukoencephalitis	Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL.	NCIT:C84535|ICD9:136.9|OMIM:606752|EFO:0007132|DOID:10992|MESH:D004684|UMLS:C0014077|SCTID:72986009|GARD:0008629	mondo.json	AHL|Weston-Hurst syndrome|AHLE|acute hemorrhagic encephalomyelitis|acute necrotizing hemorrhagic leukoencephalitis|acute hemorrhagic leukoencephalitis|Ahl|acute haemorrhagic leucoencephalitis of Weston Hurst	http://purl.obolibrary.org/obo/MONDO_0011716	http://identifiers.org/snomedct/72986009|NCIT:C84535|http://identifiers.org/mesh/D004684|DOID:10992|UMLS:C0014077|https://omim.org/entry/606752	gard_rare
MONDO:0011719	biolink:Disease	gastrointestinal stromal tumor	Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.	UMLS:C3179349|ONCOTREE:GIST|ICDO:8936/1|GARD:0008598|DOID:9253|UMLS:C0238198|Orphanet:44890|NCIT:C3868|MESH:D046152|SCTID:420120006|OMIM:606764|MedDRA:10051066	mondo.json	gastrointestinal stromal tumor, isolated cases|gist|gastrointestinal stromal neoplasm|gant|stromal tumor of gastrointestinal tract|gastrointestinal stromal tumors|gastrointestinal stromal tumor (gist)|gastrointestinal stromal tumor, familial, isolated cases|gastrointestinal stromal tumor|gastrointestinal stromal sarcoma	http://purl.obolibrary.org/obo/MONDO_0011719	Orphanet:44890|DOID:9253|http://identifiers.org/mesh/D046152|http://identifiers.org/snomedct/420120006|UMLS:C0238198|UMLS:C3179349|NCIT:C3868|https://omim.org/entry/606764	ordo_disease
MONDO:0011718	biolink:Disease	primary ciliary dyskinesia 2	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene.	OMIM:606763|DOID:0110626|MESH:C535277|UMLS:C1847554	mondo.json	ciliary dyskinesia, primary, type 2|primary ciliary dyskinesia caused by mutation in DNAAF3|primary ciliary dyskinesia 2 with or without situs inversus|ciliary dyskinesia, primary, 2|CILD2|ciliary dyskinesia, primary, 2, with or without situs inversus|DNAAF3 primary ciliary dyskinesia|primary ciliary dyskinesia type 2	http://purl.obolibrary.org/obo/MONDO_0011718	http://identifiers.org/mesh/C535277|DOID:0110626|UMLS:C1847554|https://omim.org/entry/606763	
MONDO:0011720	biolink:Disease	spermatogenic failure 3	Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene.	UMLS:C1847540|MESH:C564665|DOID:0070168|OMIM:606766	mondo.json	SPGF3|spermatogenic failure 3|spermatogenic failure type 3|SLC26A8 azoospermia|azoospermia caused by mutation in SLC26A8	http://purl.obolibrary.org/obo/MONDO_0011720	DOID:0070168|UMLS:C1847540|https://omim.org/entry/606766|http://identifiers.org/mesh/C564665	
CL:0000893	biolink:Cell	thymocyte	An immature T cell located in the thymus.	FMA:72202|BTO:0001372|XAO:0003159|CALOHA:TS-1042	mondo.json	thymic lymphocyte|immature T cell|immature T-cell|immature T lymphocyte|immature T-lymphocyte	http://purl.obolibrary.org/obo/CL_0000893		
GO:0042776	biolink:NamedThing	proton motive force-driven mitochondrial ATP synthesis	The transport of protons across a mitochondrial membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis.		mondo.json	mitochondrial proton transport|mitochondrial ATP synthesis coupled proton transport	http://purl.obolibrary.org/obo/GO_0042776		
HGNC:12703	biolink:NamedThing	BEST1			mondo.json		http://identifiers.org/hgnc/12703		
CL:0000894	biolink:Cell	DN1 thymic pro-T cell	A pro-T cell that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative.		mondo.json	DN1 thymic pro-T-lymphocyte|DN1 thymic progenitor T cell|preT.DN1.Th|DN1 thymocyte|double negative 1|DN1 thymic pro-T-cell|DN1 thymic pro-T lymphocyte	http://purl.obolibrary.org/obo/CL_0000894		
CL:0000895	biolink:Cell	naive thymus-derived CD4-positive, alpha-beta T cell	An antigen inexperienced CD4-positive, alpha-beta T cell with the phenotype CCR7-positive, CD127-positive and CD62L-positive. This cell type develops in the thymus. This cell type is also described as being CD25-negative, CD62L-high, and CD44-low.		mondo.json	naive CD4+ T cell|T.4Nve.Sp|naive thymus-derived CD4-positive, alpha-beta T-cell|naive thymus-derived CD4-positive, alpha-beta T lymphocyte|naive thymus-derived CD4-positive, alpha-beta T-lymphocyte|Th0	http://purl.obolibrary.org/obo/CL_0000895		
MONDO:0011722	biolink:Disease	intellectual disability-obesity-prognathism-eye and skin anomalies syndrome		OMIM:606772|Orphanet:397973|UMLS:C1847522|MESH:C564660	mondo.json	Momes syndrome|mental retardation, obesity, mandibular prognathism, and eye and skin anomalies|MOMES syndrome|intellectual disability, obesity, mandibular prognathism, and eye and skin anomalies	http://purl.obolibrary.org/obo/MONDO_0011722	http://identifiers.org/mesh/C564660|Orphanet:397973|UMLS:C1847522|https://omim.org/entry/606772	ordo_disease
MONDO:0011721	biolink:Disease	distal myopathy with anterior tibial onset		Orphanet:178400|UMLS:C1847532|DOID:0111187|MESH:C564664|OMIM:606768	mondo.json	distal anterior compartment myopathy|myopathy, distal, with anterior tibial onset|DMAT	http://purl.obolibrary.org/obo/MONDO_0011721	http://identifiers.org/mesh/C564664|UMLS:C1847532|Orphanet:178400|https://omim.org/entry/606768|DOID:0111187	ordo_disease
CL:0000896	biolink:Cell	activated CD4-positive, alpha-beta T cell	A recently activated CD4-positive, alpha-beta T cell with the phenotype CD69-positive, CD62L-negative, CD127-negative, and CD25-positive.		mondo.json	activated CD4-positive, alpha-beta T-cell|activated CD4-positive, alpha-beta T lymphocyte|activated CD4-positive, alpha-beta T-lymphocyte	http://purl.obolibrary.org/obo/CL_0000896		
MONDO:0035713	biolink:Disease	FOXG1 syndrome due to intragenic alteration		Orphanet:598164	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035713	Orphanet:598164	ordo_subtype_of_a_disorder
HGNC:3259	biolink:NamedThing	EIF2B3			mondo.json		http://identifiers.org/hgnc/3259		
HGNC:3258	biolink:NamedThing	EIF2B2			mondo.json		http://identifiers.org/hgnc/3258		
HGNC:3257	biolink:NamedThing	EIF2B1			mondo.json		http://identifiers.org/hgnc/3257		
HGNC:3255	biolink:NamedThing	EIF2AK3			mondo.json		http://identifiers.org/hgnc/3255		
MONDO:0011709	biolink:Disease	split hand-foot malformation 5	Split-hand/foot malformation mapped to chromosome 2q31.	MESH:C564674|DOID:0090022|UMLS:C1847622|OMIM:606708|NCIT:C75002	mondo.json	split hand-foot malformation type 5|split-hand/foot malformation 5|split-hand/foot malformation type 5|SHFM5	http://purl.obolibrary.org/obo/MONDO_0011709	https://omim.org/entry/606708|NCIT:C75002|DOID:0090022|http://identifiers.org/mesh/C564674|UMLS:C1847622	
CHEBI:30501	biolink:ChemicalSubstance	beryllium atom	Alkaline earth metal atom with atomic number 4.		mondo.json	berilio|Beryllium|beryllium|4Be|Be|beryllium	http://purl.obolibrary.org/obo/CHEBI_30501		
MONDO:0011702	biolink:Disease	dilated cardiomyopathy 1L	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene.	UMLS:C1847667|DOID:0110436|OMIM:606685|MESH:C564679	mondo.json	dilated cardiomyopathy type 1L|SGCD familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in SGCD|cardiomyopathy, dilated, type 1L|cardiomyopathy, dilated, 1L|CMD1L	http://purl.obolibrary.org/obo/MONDO_0011702	DOID:0110436|http://identifiers.org/mesh/C564679|UMLS:C1847667|https://omim.org/entry/606685	
CL:0000864	biolink:Cell	tissue-resident macrophage	A macrophage constitutively resident in a particular tissue under non-inflammatory conditions, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells.	FMA:84644|FMA:84642	mondo.json	resting histiocyte|fixed macrophage	http://purl.obolibrary.org/obo/CL_0000864		
UBERON:0007590	biolink:AnatomicalEntity	cuboidal oviduct epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007590		
MONDO:0011701	biolink:Disease	inflammatory bowel disease 4	An inflammatory bowel disease that has material basis in variation in the chromosome region 14q11-q12.	MESH:C564680|UMLS:C1847691|DOID:0110903|OMIM:606675	mondo.json	inflammatory bowel disease type 4|IBD4|inflammatory bowel disease 4	http://purl.obolibrary.org/obo/MONDO_0011701	http://identifiers.org/mesh/C564680|DOID:0110903|UMLS:C1847691|https://omim.org/entry/606675	
MONDO:0011704	biolink:Disease	glaucoma 1, open angle, B		OMIM:606689	mondo.json	glaucoma 1B, primary open angle, adult onset|glaucoma 1, open angle, B|GLC1B	http://purl.obolibrary.org/obo/MONDO_0011704	https://omim.org/entry/606689	obsoletion_candidate
NCBITaxon:2682482	biolink:OrganismalEntity	Mastigamoebida		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2682482		
MONDO:0011703	biolink:Disease	spongiform encephalopathy with neuropsychiatric features		OMIM:606688|MESH:C564678|UMLS:C1847650	mondo.json	spongiform encephalopathy with neuropsychiatric features	http://purl.obolibrary.org/obo/MONDO_0011703	http://identifiers.org/mesh/C564678|UMLS:C1847650|https://omim.org/entry/606688	
MONDO:0011706	biolink:Disease	Kufor-Rakeb syndrome	Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.	DOID:0060556|GARD:0009174|MESH:C537177|OMIM:606693|Orphanet:306674	mondo.json	autosomal recessive Parkinson disease 9|Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia|Parkinson disease 9, autosomal recessive, juvenile-onset|ceroid lipofuscinosis, neuronal, 12|Pallidopyramidal Degeneration with supranuclear upgaze paresis and dementia|KRS|Parkinson disease type 9|KRPPD|park 9|PARK9|Kufor-Rakeb syndrome|Parkinson disease 9, autosomal recessive|autosomal recessive juvenile onset Parkinson disease 9	http://purl.obolibrary.org/obo/MONDO_0011706	DOID:0060556|Orphanet:306674|https://omim.org/entry/606693|http://identifiers.org/mesh/C537177	ordo_disease|clingen
MONDO:0011705	biolink:Disease	lymphangioleiomyomatosis	A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites.	ICDO:9174/1|NCIT:C3725|OMIM:606690|ICD10CM:J84.81	mondo.json	lymphangioleiomyomatosis|LAM|lung lymphangioleiomyomatosis|pulmonary lymphangioleiomyomatosis|lymphangioleiomyomatosis, somatic|lymphangiomyomatosis|lymphangio-myomatosis	http://purl.obolibrary.org/obo/MONDO_0011705	http://purl.bioontology.org/ontology/ICD10CM/J84.81|NCIT:C3725|https://omim.org/entry/606690	gard_rare|ordo_disease
MONDO:0011708	biolink:Disease	autosomal dominant nonsyndromic hearing loss 36	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.	MESH:C564675|OMIM:606705|DOID:0110563|UMLS:C1847626	mondo.json	autosomal dominant deafness 36|deafness, autosomal dominant 36|deafness, autosomal dominant type 36|DFNA36|autosomal dominant nonsyndromic deafness type 36|TMC1 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in TMC1|autosomal dominant nonsyndromic deafness 36	http://purl.obolibrary.org/obo/MONDO_0011708	https://omim.org/entry/606705|DOID:0110563|http://identifiers.org/mesh/C564675|UMLS:C1847626	clingen
NCBITaxon:42740	biolink:OrganismalEntity	Opalinata		GC_ID:1	mondo.json	Slopalinida	http://purl.obolibrary.org/obo/NCBITaxon_42740		
MONDO:0011707	biolink:Disease	obsolete familial dyskinesia and facial myokymia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0011707		
HGNC:3261	biolink:NamedThing	EIF2B5			mondo.json		http://identifiers.org/hgnc/3261		
HGNC:3260	biolink:NamedThing	EIF2B4			mondo.json		http://identifiers.org/hgnc/3260		
MONDO:0011711	biolink:Disease	specific language impairment 2		OMIM:606712|UMLS:C1847605	mondo.json	SLI2|specific language impairment quantitative trait locus on chromosome 19|specific language impairment QTL, 2|specific language impairment 2	http://purl.obolibrary.org/obo/MONDO_0011711	UMLS:C1847605|https://omim.org/entry/606712	
UBERON:0007592	biolink:AnatomicalEntity	ciliated columnar epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007592		
MONDO:0011710	biolink:Disease	specific language impairment 1		OMIM:606711|UMLS:C1847614	mondo.json	SLI1|specific language impairment quantitative trait locus on chromosome 16|specific language impairment QTL, 1|specific language impairment 1	http://purl.obolibrary.org/obo/MONDO_0011710	UMLS:C1847614|https://omim.org/entry/606711	
HGNC:3267	biolink:NamedThing	EIF2S3			mondo.json		http://identifiers.org/hgnc/3267		
CL:0000878	biolink:Cell	central nervous system macrophage	A tissue-resident macrophage found in the central nervous system.		mondo.json	CNS macrophage	http://purl.obolibrary.org/obo/CL_0000878		
MONDO:0011700	biolink:Disease	inflammatory bowel disease 6	An inflammatory bowel disease that has material basis in variation in the chromosome region 19p13.	MESH:C564681|DOID:0110907|OMIM:606674|UMLS:C1847692	mondo.json	inflammatory bowel disease 6|inflammatory bowel disease type 6|IBD6	http://purl.obolibrary.org/obo/MONDO_0011700	http://identifiers.org/mesh/C564681|DOID:0110907|UMLS:C1847692|https://omim.org/entry/606674	
MONDO:0035735	biolink:Disease	acquired hemophilia A	An acquired form of hemophilia A, resulting in spontaneous bleeding in individuals with no history of bleeding disorders. It is believed to be caused by spontaneous inhibition of clotting factor VIII by autoantibodies, and is usually associated with other autoimmune conditions.	MESH:C536392|Orphanet:599480|NCIT:C35345|UMLS:C0272325	mondo.json	AHA	http://purl.obolibrary.org/obo/MONDO_0035735	UMLS:C0272325|NCIT:C35345|Orphanet:599480|http://identifiers.org/mesh/C536392	ordo_disorder
MONDO:0035734	biolink:Disease	hereditary angioedema with normal C1inh not related to F12 or PLG variant		Orphanet:599418	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035734	Orphanet:599418	ordo_subtype_of_a_disorder
UBERON:0007589	biolink:AnatomicalEntity	ciliated columnar oviduct epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007589		
MONDO:0008118	biolink:Disease	odontomatosis-aortae esophagus stenosis syndrome	Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.	UMLS:C1834013|SCTID:716180009|Orphanet:2724|MESH:C537740|OMIM:164330|GARD:0000238	mondo.json	odontoma dysphagia syndrome|Odontomatosis (multiple odontomas) with dysphagia|odontoma-dysphagia syndrome|boder syndrome	http://purl.obolibrary.org/obo/MONDO_0008118	http://identifiers.org/snomedct/716180009|UMLS:C1834013|Orphanet:2724|https://omim.org/entry/164330|http://identifiers.org/mesh/C537740	ordo_malformation_syndrome
MONDO:0008119	biolink:Disease	spinocerebellar ataxia type 1	Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.	OMIM:164400|NCIT:C129982|SCTID:715748006|UMLS:C0752120|DOID:0050954|Orphanet:98755|GARD:0004071	mondo.json	OPCA1|ATXN1 autosomal dominant cerebellar ataxia type I|cerebelloparenchymal disorder 1|spinocerebellar atrophy 1|spinocerebellar ataxia 1|spinocerebellar ataxia type 1|autosomal dominant cerebellar ataxia type I caused by mutation in ATXN1|OPCA 4|olivopontocerebellar atrophy 4|OPCA4|OPCA 1|Menzel type OPCA|olivopontocerebellar atrophy 1|Schut-haymaker type OPCA|Sca1	http://purl.obolibrary.org/obo/MONDO_0008119	NCIT:C129982|DOID:0050954|http://identifiers.org/snomedct/715748006|https://omim.org/entry/164400|UMLS:C0752120|Orphanet:98755	ordo_disease
MONDO:0011768	biolink:Disease	myasthenia gravis with thymus hyperplasia		OMIM:607085|UMLS:C1846838|MESH:C564628	mondo.json	myasthenia gravis with thymus hyperplasia|Myas1	http://purl.obolibrary.org/obo/MONDO_0011768	https://omim.org/entry/607085|UMLS:C1846838|http://identifiers.org/mesh/C564628	
MONDO:0008116	biolink:Disease	oculopharyngeal muscular dystrophy	Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness.	MedDRA:10052181|UMLS:C0270952|GARD:0007245|NCIT:C84942|SCTID:77097004|Orphanet:270|DOID:11719|MESH:D039141|OMIM:164300	mondo.json	muscular dystrophy, oculopharyngeal|oculopharyngeal muscular dystrophy|OPMD	http://purl.obolibrary.org/obo/MONDO_0008116	http://identifiers.org/snomedct/77097004|DOID:11719|NCIT:C84942|http://identifiers.org/mesh/D039141|https://omim.org/entry/164300|Orphanet:270|UMLS:C0270952	gard_rare|ordo_disease
CL:0000842	biolink:Cell	mononuclear cell	A leukocyte with a single non-segmented nucleus in the mature form.	BTO:0000878|FMA:86713|CALOHA:TS-0768	mondo.json	peripheral blood mononuclear cell|mononuclear leukocyte	http://purl.obolibrary.org/obo/CL_0000842		
MONDO:0011767	biolink:Disease	autosomal recessive nonsyndromic hearing loss 31	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the WHRN gene.	DOID:0110490|UMLS:C1846839|MESH:C564629|OMIM:607084	mondo.json	DFNB31|autosomal recessive nonsyndromic deafness 31|autosomal recessive deafness 31|deafness, autosomal recessive 31|autosomal recessive nonsyndromic deafness caused by mutation in WHRN|autosomal recessive nonsyndromic deafness type 31|WHRN autosomal recessive nonsyndromic deafness|whirler, mouse, homolog of|deafness, autosomal recessive type 31	http://purl.obolibrary.org/obo/MONDO_0011767	https://omim.org/entry/607084|UMLS:C1846839|DOID:0110490|http://identifiers.org/mesh/C564629	
CL:0000843	biolink:Cell	follicular B cell	A resting mature B cell that has the phenotype IgM-positive, IgD-positive, CD23-positive and CD21-positive, and found in the B cell follicles of the white pulp of the spleen or the corticol areas of the peripheral lymph nodes. This cell type is also described as being CD19-positive, B220-positive, AA4-negative, CD43-negative, and CD5-negative.		mondo.json	Fo B-cell|follicular B-cell|follicular B lymphocyte|follicular B-lymphocyte|Fo B cell	http://purl.obolibrary.org/obo/CL_0000843		
MONDO:0008117	biolink:Disease	obsolete oculopharyngodistal myopathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008117		
MONDO:0008114	biolink:Disease	obsessive-compulsive disorder	A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety.	ICD10CM:F42|EFO:0004242|NCIT:C88411|MESH:D009771|OMIM:164230|SCTID:191736004|ICD9:300.3|DOID:10933	mondo.json	Anancastic neurosis|OCD|obsessive compulsive disorder|obsessive-compulsive disorder, susceptibility to|obsessive-compulsive disorder	http://purl.obolibrary.org/obo/MONDO_0008114	http://identifiers.org/snomedct/191736004|DOID:10933|https://omim.org/entry/164230|NCIT:C88411|http://identifiers.org/mesh/D009771|http://purl.bioontology.org/ontology/ICD10CM/F42	
CL:0000845	biolink:Cell	marginal zone B cell of spleen	A mature B cell that is located in the marginal zone of the spleen with the phenotype CD23-negative and CD21-positive and expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL. This cell type is also described as being CD19-positive, B220-positive, IgM-high, AA4-negative, CD35-high.		mondo.json	MZ B-cell|marginal zone of spleen B cell|MZ B lymphocyte|B cell of marginal zone of spleen|marginal zone B cell|MZ B-lymphocyte|marginal zone B-cell|marginal zone B lymphocyte|marginal zone B-lymphocyte|MZ B cell	http://purl.obolibrary.org/obo/CL_0000845		
MONDO:0008115	biolink:Disease	Feingold syndrome type 1	Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies.	SCTID:702431004|ICD9:759.89|Orphanet:391641|UMLS:CN204984|OMIM:164280	mondo.json	digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1|oculodigitoesophagoduodenal syndrome|microcephaly-oculo-digito-esophageal-duodenal syndrome|FS1|microcephaly-digital anomalies-normal intelligence syndrome type 1|Feingold syndrome|Mmt syndrome|Oded syndrome|microcephaly, intellectual disability, and tracheoesophageal fistula syndrome|microcephaly and digital abnormalities with normal intelligence|oculo-digito-esophageal-duodenal syndrome type 1|ODED syndrome type 1|Feingold syndrome 1|MODED syndrome type 1|Feingold syndrome caused by mutation in MYCN|Brunner-Winter syndrome type 1|microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1|microcephaly, mental retardation, and tracheoesophageal fistula syndrome|MYCN Feingold syndrome|digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1|Feingold syndrome type 1|FGLDS1|MMT type 1	http://purl.obolibrary.org/obo/MONDO_0008115	UMLS:CN204984|https://omim.org/entry/164280|Orphanet:391641|http://identifiers.org/snomedct/702431004	ordo_clinical_subtype
NCBITaxon:40141	biolink:OrganismalEntity	Sigmodontinae		PMID:15019624|GC_ID:1|PMID:15371245	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_40141		
MONDO:0011769	biolink:Disease	obsolete familial aortic dissection			mondo.json		http://purl.obolibrary.org/obo/MONDO_0011769		
MONDO:0008112	biolink:Disease	obsolete Goldenhar syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008112		
CL:0000847	biolink:Cell	ciliated olfactory receptor neuron	An olfactory receptor cell in which the apical ending of the dendrite is a pronounced ciliated olfactory knob.		mondo.json	ciliated olfactory sensory neuron|ciliated sensory neuron	http://purl.obolibrary.org/obo/CL_0000847		
MONDO:0008113	biolink:Disease	Schilbach-Rott syndrome	Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.	SCTID:721902002|MESH:C563509|Orphanet:2353|OMIM:164220|GARD:0002930	mondo.json	cleft palate, hypotelorism, and hypospadias|BRSS|ocular hypotelorism, submucosal cleft palate, and hypospadias|hypotelorism cleft palate hypospadias|blepharofacioskeletal syndrome|hypotelorism-cleft palate-hypospadias syndrome|Schilbach-Rott syndrome	http://purl.obolibrary.org/obo/MONDO_0008113	http://identifiers.org/mesh/C563509|http://identifiers.org/snomedct/721902002|Orphanet:2353|https://omim.org/entry/164220	gard_rare|ordo_malformation_syndrome
MONDO:0008110	biolink:Disease	obsolete ocular dominance		OMIM:164190	mondo.json	ocular dominance	http://purl.obolibrary.org/obo/MONDO_0008110	https://omim.org/entry/164190	
MONDO:0008111	biolink:Disease	oculodentodigital dysplasia	Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.	SCTID:38215007|DOID:0060291|MESH:C563160|ICD9:759.89|Orphanet:2710|MedDRA:10063691|OMIM:164200|GARD:0007239	mondo.json	oculodentodigital dysplasia|oculo-dento-digital dysplasia|Meyer-Schwickerath syndrome|oculodentodigital syndrome|ODDD syndrome|oculodentoosseous dysplasia|ODDD|oculo-dento-digital syndrome|odd syndrome	http://purl.obolibrary.org/obo/MONDO_0008111	https://omim.org/entry/164200|http://identifiers.org/snomedct/38215007|Orphanet:2710|http://identifiers.org/mesh/C563160|DOID:0060291	ordo_malformation_syndrome|gard_rare
MONDO:0011771	biolink:Disease	distal spinal muscular atrophy type 3	Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.	DOID:0111211|MESH:C564626|UMLS:C1846823|OMIM:607088|Orphanet:139547	mondo.json	dHMN3 and dHMN4|dHMN4|dHMN3|HMN 4|dSMA3|HMN 3|spinal muscular atrophy, chronic distal, autosomal recessive|spinal muscular atrophy, distal, autosomal recessive, 3|autosomal recessive distal spinal muscular atrophy type 3|neuronopathy, distal hereditary motor, type 4|distal hereditary motor neuropathy type 3 and type 4|neuropathy, distal hereditary motor, type 4|neuronopathy, distal hereditary motor, type 3	http://purl.obolibrary.org/obo/MONDO_0011771	DOID:0111211|http://identifiers.org/mesh/C564626|Orphanet:139547|https://omim.org/entry/607088|UMLS:C1846823	ordo_disease
MONDO:0011770	biolink:Disease	aortic aneurysm, familial thoracic 2		UMLS:C1846837|MESH:C564627|OMIM:607087	mondo.json	aortic aneurysm, familial thoracic 2|FAA2|AAT2	http://purl.obolibrary.org/obo/MONDO_0011770	http://identifiers.org/mesh/C564627|https://omim.org/entry/607087|UMLS:C1846837	
MONDO:0011773	biolink:Disease	anauxetic dysplasia	A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation.	UMLS:C1846796|OMIMPS:607095|UMLS:CN029084|DOID:0050640|Orphanet:93347|GARD:0009657|MESH:C538256	mondo.json	spondylometaepiphyseal dysplasia, anauxetic type|anauxetic dysplasia|spondyloepimetaphyseal dysplasia, Menger type|anauxetic dysplasia type 1|spondyloepimetaphyseal dysplasia, anauxetic type|spondylometaepiphyseal dysplasia, Menger type|spondylometaepiphyseal dysplasia anauxetic type|anauxetic dysplasia 1|spondylometaepiphyseal dysplasia Menger type|ANXD1	http://purl.obolibrary.org/obo/MONDO_0011773	DOID:0050640|Orphanet:93347|https://omim.org/phenotypicSeries/PS607095|UMLS:CN029084|http://identifiers.org/mesh/C538256|UMLS:C1846796	prototype_pattern|ordo_disease
MONDO:0011772	biolink:Disease	B4GALT1-congenital disorder of glycosylation	B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.	DOID:0070256|OMIM:607091|MESH:C535753|SCTID:725587007|UMLS:C2931009|GARD:0009841|Orphanet:79332	mondo.json	carbohydrate deficient glycoprotein syndrome type IId|CDG-IId|CDG2D|congenital disorder of glycosylation, type IId|Beta-1,4-galactosyltransferase deficiency|B4GALT1-CDG|CDG 2D|B4GALT1-congenital disorder of glycosylation|B4GALT1-CDG (CDG-IId)|congenital disorder of glycosylation type IId|CDG syndrome type IId|congenital disorder of glycosylation type 2d|CDG IId	http://purl.obolibrary.org/obo/MONDO_0011772	http://identifiers.org/snomedct/725587007|Orphanet:79332|http://identifiers.org/mesh/C535753|UMLS:C2931009|DOID:0070256|https://omim.org/entry/607091	ordo_disease
MONDO:0011775	biolink:Disease	nasopharyngeal carcinoma, susceptibility to, 1	Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the TP53 gene.	UMLS:C1846758|OMIM:607107	mondo.json	nasopharyngeal cancer|nasopharyngeal carcinoma 1|nasopharyngeal carcinoma, somatic|nasopharyngeal carcinoma|nasopharyngeal carcinoma caused by mutation in TP53|Npca|NPC|TP53 nasopharyngeal carcinoma|nasopharyngeal carcinoma, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0011775	UMLS:C1846758|https://omim.org/entry/607107	predisposition
MONDO:0011774	biolink:Disease	autosomal recessive nonsyndromic hearing loss 30	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene.	UMLS:C1846784|DOID:0110489|OMIM:607101|MESH:C564624	mondo.json	DFNB30|deafness, autosomal recessive type 30|MYO3A autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness 30|autosomal recessive nonsyndromic deafness caused by mutation in MYO3A|autosomal recessive deafness 30|autosomal recessive nonsyndromic deafness type 30|deafness, autosomal recessive 30	http://purl.obolibrary.org/obo/MONDO_0011774	UMLS:C1846784|DOID:0110489|http://identifiers.org/mesh/C564624|https://omim.org/entry/607101	
MONDO:0011777	biolink:Disease	Alzheimer disease 8	An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21.	OMIM:607116|MESH:C564622|DOID:0110041|UMLS:C1846735	mondo.json	Alzheimer disease 8|Alzheimer disease, familial, 8|Ad8|Alzheimer's disease 8|Alzheimer disease, familial 8|Alzheimer disease type 8|AD8|Alzheimer's disease type 8	http://purl.obolibrary.org/obo/MONDO_0011777	UMLS:C1846735|DOID:0110041|http://identifiers.org/mesh/C564622|https://omim.org/entry/607116	
MONDO:0011776	biolink:Disease	CINCA syndrome	Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.	ICD9:759.89|OMIM:607115|GARD:0001356|SCTID:239826001|NCIT:C116380|DOID:0090029|Orphanet:1451	mondo.json	infantile-onset multisystem inflammatory disease|IOMID syndrome|neonatal onset multisystem inflammatory disease|CINCA/NOMID|Cryopyrin-associated periodic syndrome 3|NOMID syndrome|NOMID|chronic infantile neurological cutaneous articular syndrome|Prieur Griscelli syndrome|neonatal-onset multisystem inflammatory disease|multisystem inflammatory disease, neonatal-onset|IOMID|infantile onset multisystem inflammatory disease|cryopyrin-associated periodic syndrome 3|chronic neurologic cutaneous and articular syndrome|CINCA syndrome|CINCA|chronic infantile neurological cutaneous and articular syndrome|Prieur-Griscelli syndrome	http://purl.obolibrary.org/obo/MONDO_0011776	Orphanet:1451|NCIT:C116380|DOID:0090029|http://identifiers.org/snomedct/239826001|https://omim.org/entry/607115	ordo_disease
UBERON:0020550	biolink:AnatomicalEntity	auricular blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0020550		
HGNC:3287	biolink:NamedThing	EIF4E			mondo.json		http://identifiers.org/hgnc/3287		
MONDO:0008129	biolink:Disease	ophthalmoplegia, familial total, with iris transillumination		UMLS:C1833836|MESH:C563499|OMIM:165098	mondo.json	ophthalmoplegia, familial total, with iris transillumination	http://purl.obolibrary.org/obo/MONDO_0008129	http://identifiers.org/mesh/C563499|https://omim.org/entry/165098|UMLS:C1833836	
CL:0000853	biolink:Cell	olfactory epithelial supporting cell	Olfactory epithelial support cell is a columnar cell that extends from the epithelial free margin to the basement membrane of the olfactory epithelium. This cell type has a large, vertically, elongate, euchromatic nucleus, along with other nuclei, forms a layer superficial to the cell body of the receptor cell; sends long somewhat irregular microvilli into the mucus layer; at the base, with expanded end-feet containing numerous lamellated dense bodies resembling lipofuscin of neurons.	FMA:62302	mondo.json	olfactory sustentacular cell|supporting cell of olfactory epithelium|sustentaculocyte of olfactory epithelium|olfactory epithelial support cell	http://purl.obolibrary.org/obo/CL_0000853		
MONDO:0008127	biolink:Disease	ophthalmomandibulomelic dysplasia	Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.	GARD:0004365|UMLS:C1833872|MESH:C563501|Orphanet:2741|SCTID:715484003|OMIM:164900	mondo.json	OMM syndrome|ophthalmomandibulomelic dysplasia|Ophthalmo-mandibulo-melic dysplasia|Pillay syndrome	http://purl.obolibrary.org/obo/MONDO_0008127	http://identifiers.org/mesh/C563501|http://identifiers.org/snomedct/715484003|UMLS:C1833872|Orphanet:2741|https://omim.org/entry/164900	ordo_malformation_syndrome
MONDO:0011757	biolink:Disease	brachydactyly type A1B		UMLS:C1846949|MESH:C564635|DOID:0110974|OMIM:607004	mondo.json	BDA1B|brachydactyly, type A1, B	http://purl.obolibrary.org/obo/MONDO_0011757	https://omim.org/entry/607004|UMLS:C1846949|http://identifiers.org/mesh/C564635|DOID:0110974	
CL:1000804	biolink:Cell	kidney outer medulla interstitial cell		KUPO:0001094	mondo.json		http://purl.obolibrary.org/obo/CL_1000804		
MONDO:0008128	biolink:Disease	ophthalmoplegia, familial static		MESH:C563500|OMIM:165000|UMLS:C1833839	mondo.json	external ophthalmoplegia, nonprogressive, congenital hereditary|ophthalmoplegia, familial static	http://purl.obolibrary.org/obo/MONDO_0008128	http://identifiers.org/mesh/C563500|https://omim.org/entry/165000|UMLS:C1833839	
MONDO:0011756	biolink:Disease	Senior-Loken syndrome 4	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene.	MESH:C537581|UMLS:C1846979|OMIM:606996	mondo.json	Senior-Loken syndrome type 4|SLSN4|NPHP4 Senior-Loken syndrome|Senior-Loken syndrome caused by mutation in NPHP4|SENIOR-Loken syndrome 4|Senior-Loken syndrome 4	http://purl.obolibrary.org/obo/MONDO_0011756	UMLS:C1846979|https://omim.org/entry/606996|http://identifiers.org/mesh/C537581	
CL:1000803	biolink:Cell	kidney inner medulla interstitial cell		KUPO:0001093	mondo.json		http://purl.obolibrary.org/obo/CL_1000803		
HP:0002900	biolink:PhenotypicFeature	Hypokalemia	An abnormally decreased potassium concentration in the blood.	SNOMEDCT_US:43339004|UMLS:C0020621|MSH:D007008|SNOMEDCT_US:166690008	mondo.json	Low blood potassium levels	http://purl.obolibrary.org/obo/HP_0002900		
MONDO:0011759	biolink:Disease	Hurler-Scheie syndrome	Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.	OMIM:607015|GARD:0012560|DOID:0111389|SCTID:73123008|NCIT:C122782|Orphanet:93476|UMLS:C0086431|MedDRA:10056916	mondo.json	Scheie disease mps type 1s|mucopolysaccharidosis type IH/S|Scheie's syndrome|MPS1H/S|Hurler–Scheie syndrome|MPS1-HS|Hurler-Scheie syndrome|mucopolysaccharidosis type 1H/S|mucopolysaccharidosis type I-S|l-iduronidase deficiency, Scheie type|MPS I H-S|MPSIH/S|mucopolysaccharidosis IH/S|mucopolysaccharidosis type Ih/S|mucopolysaccharidosis type I mild form|mucopolysaccharidosis, mps-I-s	http://purl.obolibrary.org/obo/MONDO_0011759	Orphanet:93476|https://omim.org/entry/607015|UMLS:C0086431|http://identifiers.org/snomedct/73123008|NCIT:C122782|DOID:0111389	ordo_clinical_subtype
MONDO:0008125	biolink:Disease	nonsyndromic congenital nail disorder 5		OMIM:164800|UMLS:C1833909|DOID:0080083|MESH:C563503	mondo.json	onycholysis, partial, with scleronychia|nonsyndromic congenital nail disorder type 5|nail disorder, nonsyndromic congenital, 5|onycholysis, hereditary distal|NDNC5	http://purl.obolibrary.org/obo/MONDO_0008125	http://identifiers.org/mesh/C563503|DOID:0080083|UMLS:C1833909|https://omim.org/entry/164800	
MONDO:0011758	biolink:Disease	Hurler syndrome	Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.	OMIM:607014|GARD:0012559|NCIT:C61261|DOID:0111390|Orphanet:93473	mondo.json	mucopolysaccharidosis type IH|mucopolysaccharidosis type 1H|MPS1H|Hurler syndrome|Hurler disease|MPS1-H|mucopolysaccharidosis IH|MPSIH|MPS I H	http://purl.obolibrary.org/obo/MONDO_0011758	https://omim.org/entry/607014|Orphanet:93473|DOID:0111390|NCIT:C61261	ordo_clinical_subtype
HP:0002901	biolink:PhenotypicFeature	Hypocalcemia	An abnormally decreased calcium concentration in the blood.	UMLS:C0020598|MSH:D006996|SNOMEDCT_US:5291005	mondo.json	Low blood calcium levels|Hypocalcaemia	http://purl.obolibrary.org/obo/HP_0002901		
MONDO:0008126	biolink:Disease	obsolete oncogene Yuasa		OMIM:164891	mondo.json	oncogene Yuasa	http://purl.obolibrary.org/obo/MONDO_0008126	https://omim.org/entry/164891	
MONDO:0008123	biolink:Disease	autosomal dominant omodysplasia	Autosomal dominant form of omodysplasia.	Orphanet:93328|SCTID:725165009|GARD:0003643|MESH:C567664|OMIM:164745	mondo.json	OMOD2|omodysplasia, autosomal dominant|omodysplasia 2	http://purl.obolibrary.org/obo/MONDO_0008123	Orphanet:93328|http://identifiers.org/mesh/C567664|https://omim.org/entry/164745|http://identifiers.org/snomedct/725165009	ordo_clinical_subtype
MONDO:0008124	biolink:Disease	omphalocele, autosomal		OMIM:164750|GARD:0004218|UMLS:C3277235	mondo.json	omphalocele due to duplication of 1p31.3, isolated cases|type - hypogastric - defect in the caudal fold|omphalocele, autosomal|type - epigastric - defect in the cephalic fold|chromosome 1P31 Duplication syndrome|paraomphalocele	http://purl.obolibrary.org/obo/MONDO_0008124	https://omim.org/entry/164750|UMLS:C3277235	
MONDO:0008121	biolink:Disease	onychogryposis, pedal, with keratosis plantaris and coarse hair		MESH:C563506|UMLS:C1833997|OMIM:164680	mondo.json	onychogryposis, pedal, with keratosis plantaris and coarse hair	http://purl.obolibrary.org/obo/MONDO_0008121	UMLS:C1833997|https://omim.org/entry/164680|http://identifiers.org/mesh/C563506	
HP:0002904	biolink:PhenotypicFeature	Hyperbilirubinemia	An increased amount of bilirubin in the blood.	SNOMEDCT_US:26165005|UMLS:C0311468	mondo.json	High blood bilirubin levels	http://purl.obolibrary.org/obo/HP_0002904		
HP:0002905	biolink:PhenotypicFeature	Hyperphosphatemia	An abnormally increased phosphate concentration in the blood.	UMLS:C0553706|UMLS:C0085681|MSH:D054559|SNOMEDCT_US:20165001	mondo.json	High blood phosphate levels	http://purl.obolibrary.org/obo/HP_0002905		
MONDO:0008122	biolink:Disease	obsolete olivopontocerebellar atrophy 5			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008122		
MONDO:0011760	biolink:Disease	Scheie syndrome	Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.	Orphanet:93474|DOID:0060222|OMIM:607016|GARD:0012561|NCIT:C61265|UMLS:C0026708	mondo.json	MPS V|MPS5, formerly|MPS1-S|mucopolysaccharidosis Is|MPS I S|mucopolysaccharidosis type IS|MPS1S|mucopolysaccharidosis type 1S|mucopolysaccharidosis type V, formerly|mucopolysaccharidosis type V|Scheie syndrome|MPSIS|MPS V, formerly	http://purl.obolibrary.org/obo/MONDO_0011760	UMLS:C0026708|NCIT:C61265|DOID:0060222|Orphanet:93474|https://omim.org/entry/607016	ordo_clinical_subtype|gard_rare
MONDO:0008120	biolink:Disease	spinocerebellar ataxia type 7	Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.	UMLS:C0752125|DOID:0050958|OMIM:164500|Orphanet:94147|GARD:0004955|SCTID:715726000|NCIT:C126562	mondo.json	ADCA, type II|autosomal dominant cerebellar ataxia type II caused by mutation in ATXN7|OPCA with macular Degeneration and external ophthalmoplegia|OPCA 3|olivopontocerebellar atrophy 3|Adca, type 2|cerebellar syndrome-pigmentary maculopathy syndrome|OPCA with retinal Degeneration|ATXN7 autosomal dominant cerebellar ataxia type II|OPCA3|OPCA III|ataxia with pigmentary retinopathy|spinocerebellar ataxia 7|spinocerebellar ataxia type 7|SCA7|autosomal dominant cerebellar ataxia, type 2	http://purl.obolibrary.org/obo/MONDO_0008120	http://identifiers.org/snomedct/715726000|https://omim.org/entry/164500|UMLS:C0752125|DOID:0050958|NCIT:C126562|Orphanet:94147	ordo_disease
HGNC:3296	biolink:NamedThing	EIF4G1			mondo.json		http://identifiers.org/hgnc/3296		
MONDO:0011762	biolink:Disease	autosomal recessive nonsyndromic hearing loss 22	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOA gene.	MESH:C564633|OMIM:607039|DOID:0110480|UMLS:C1846896	mondo.json	OTOA autosomal recessive nonsyndromic deafness|autosomal recessive deafness 22|DFNB22|deafness, autosomal recessive type 22|autosomal recessive nonsyndromic deafness type 22|deafness, autosomal recessive 22|autosomal recessive nonsyndromic deafness 22|autosomal recessive nonsyndromic deafness caused by mutation in OTOA	http://purl.obolibrary.org/obo/MONDO_0011762	UMLS:C1846896|DOID:0110480|http://identifiers.org/mesh/C564633|https://omim.org/entry/607039	
MONDO:0011761	biolink:Disease	autosomal dominant nonsyndromic hearing loss 21	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3.	MESH:C564634|UMLS:C1846922|OMIM:607017|DOID:0110551	mondo.json	DFNA21|autosomal dominant deafness 21|autosomal dominant nonsyndromic deafness type 21|deafness, autosomal dominant 21|autosomal dominant nonsyndromic deafness 21	http://purl.obolibrary.org/obo/MONDO_0011761	UMLS:C1846922|DOID:0110551|http://identifiers.org/mesh/C564634|https://omim.org/entry/607017	
MONDO:0011764	biolink:Disease	autosomal dominant Parkinson disease 8	Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene.	UMLS:C1846862|OMIM:607060|DOID:0060371	mondo.json	PARK8|Parkinson disease 8|autosomal dominant Parkinson's disease 8|Parkinson disease 8, autosomal dominant|autosomal dominant Parkinson disease type 8|LRRK2 Parkinson disease|Parkinson disease caused by mutation in LRRK2|autosomal dominant Parkinson disease 8	http://purl.obolibrary.org/obo/MONDO_0011764	UMLS:C1846862|DOID:0060371|https://omim.org/entry/607060	
MONDO:0011763	biolink:Disease	obsolete T-box 24		OMIM:607044	mondo.json		http://purl.obolibrary.org/obo/MONDO_0011763	https://omim.org/entry/607044	
MONDO:0011766	biolink:Disease	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome		UMLS:C2751325|OMIM:607080|MESH:C567773|Orphanet:168563	mondo.json	46XY gonadal dysgenesis with minifascicular neuropathy|46,XY gonadal dysgenesis, partial, with MINIFASCICULAR neuropathy	http://purl.obolibrary.org/obo/MONDO_0011766	http://identifiers.org/mesh/C567773|UMLS:C2751325|Orphanet:168563|https://omim.org/entry/607080	ordo_malformation_syndrome
MONDO:0011765	biolink:Disease	multiple epiphyseal dysplasia type 5	Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.	OMIM:607078|GARD:0009794|Orphanet:93311|MESH:C535505|ICD10CM:Q77.3|UMLS:C4275060|SCTID:715674008|DOID:0070299|UMLS:C1846843	mondo.json	BHMED|multiple epiphyseal dysplasia (disease) caused by mutation in MATN3|Microepiphyseal dysplasia, bilateral hereditary|epiphyseal dysplasia, multiple, type 5|epiphyseal dysplasia, multiple, 5|epiphyseal dysplasia multiple 5|bilateral hereditary micro-epiphyseal dysplasia|EDM5|MATN3 multiple epiphyseal dysplasia (disease)|multiple epiphyseal dysplasia, MATN3-related|multiple epiphyseal dysplasia 5|Polyepiphyseal dysplasia type 5|multiple epiphyseal dysplasia, MATN3 related|MED5	http://purl.obolibrary.org/obo/MONDO_0011765	UMLS:C1846843|http://identifiers.org/mesh/C535505|http://identifiers.org/snomedct/715674008|UMLS:C4275060|Orphanet:93311|https://omim.org/entry/607078|DOID:0070299	ordo_disease
CL:0000828	biolink:Cell	thromboblast	A progenitor cell of the thrombocyte, a nucleated blood cell involved in coagulation typically seen in birds and other non-mammalian vertebrates.		mondo.json		http://purl.obolibrary.org/obo/CL_0000828		
CL:0000829	biolink:Cell	basophilic myeloblast	A myeloblast committed to the basophil lineage.		mondo.json		http://purl.obolibrary.org/obo/CL_0000829		
CL:1000839	biolink:Cell	kidney proximal straight tubule epithelial cell		KUPO:0001046	mondo.json		http://purl.obolibrary.org/obo/CL_1000839		
CL:1000838	biolink:Cell	kidney proximal convoluted tubule epithelial cell		KUPO:0001045	mondo.json		http://purl.obolibrary.org/obo/CL_1000838		
MONDO:0011746	biolink:Disease	symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch		OMIM:606895|GARD:0008554|UMLS:C1847185|MESH:C538148	mondo.json	symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch|distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch	http://purl.obolibrary.org/obo/MONDO_0011746	UMLS:C1847185|http://identifiers.org/mesh/C538148|https://omim.org/entry/606895	gard_rare
CL:0000820	biolink:Cell	B-1a B cell	A B-1 B cell that has the phenotype CD5-positive.		mondo.json	B1a B-lymphocyte|CD5(+) B1 cell|CD5-positive B1 cell|B-1a B-cell|B-1a B lymphocyte|B1a cell|B1a B cell|B-1a B-lymphocyte|B1a B-cell|B1a B lymphocyte|CD5+ B1 cell	http://purl.obolibrary.org/obo/CL_0000820		
MONDO:0011745	biolink:Disease	duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery		GARD:0009227|OMIM:606894|UMLS:C1847196|MESH:C535722	mondo.json	duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery|duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery	http://purl.obolibrary.org/obo/MONDO_0011745	UMLS:C1847196|https://omim.org/entry/606894|http://identifiers.org/mesh/C535722	gard_rare
NCBITaxon:40121	biolink:OrganismalEntity	Erythroparvovirus		GC_ID:1	mondo.json	Erythrovirus	http://purl.obolibrary.org/obo/NCBITaxon_40121		
CL:0000821	biolink:Cell	B-1b B cell	A B-1 B cell that has the phenotype CD5-negative, but having other phenotypic attributes of a B-1 B cell.		mondo.json	B1b B-lymphocyte|B-1b B-cell|B-1b B lymphocyte|B1b cell|B1b B cell|B-1b B-lymphocyte|B1b B-cell|B1b B lymphocyte	http://purl.obolibrary.org/obo/CL_0000821		
MONDO:0011748	biolink:Disease	Usher syndrome type 1G	Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene.	OMIM:606943|UMLS:C1847089|MESH:C564643|DOID:0110834|ICD10CM:H35.5	mondo.json	Usher syndrome type Ig|USHER syndrome, type Ig|Usher syndrome, type 1G|Usher syndrome type 1G|USH1G Usher syndrome|USH1G|Usher syndrome caused by mutation in USH1G	http://purl.obolibrary.org/obo/MONDO_0011748	DOID:0110834|UMLS:C1847089|https://omim.org/entry/606943|http://identifiers.org/mesh/C564643	
CL:0000822	biolink:Cell	B-2 B cell	A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative.		mondo.json	B2 B-lymphocyte|B-0 B cell|B-2 B-cell|B-2 B lymphocyte|B2 cell|B-2 B-lymphocyte|B2 B cell|B2 B-cell|B2 B lymphocyte	http://purl.obolibrary.org/obo/CL_0000822		
MONDO:0011747	biolink:Disease	dyslexia, susceptibility to, 5		OMIM:606896	mondo.json	DYX5|dyslexia, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0011747	https://omim.org/entry/606896	predisposition
CL:0000823	biolink:Cell	immature natural killer cell	A natural killer cell that is developmentally immature and expresses natural killer cell receptors (NKR).		mondo.json	immature NK cell|p-NK	http://purl.obolibrary.org/obo/CL_0000823		
MONDO:0011749	biolink:Disease	oculocutaneous albinism type 1B	Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.	UMLS:C1847132|Orphanet:352737|DOID:0070095|OMIM:606952|Orphanet:79434|MESH:C537729|UMLS:C1847024|GARD:0000594	mondo.json	Yellow mutant albinism|OCA1B|oculocutaneous albinism, type 1B|Yellow oculocutaneous albinism|albinism, Yellow mutant type|Oca1-Ts|albinism, oculocutaneous, type IB|oculocutaneous albinism type IB|platinum oculocutaneous albinism|oculocutaneous albinism, Amish type|albinism, oculocutaneous, type 1B|albinism, oculocutaneous, type I, temperature-sensitive|Yellow albinism	http://purl.obolibrary.org/obo/MONDO_0011749	UMLS:C1847024|DOID:0070095|https://omim.org/entry/606952|http://identifiers.org/mesh/C537729|Orphanet:79434	ordo_clinical_subtype|gard_rare
CL:0000825	biolink:Cell	pro-NK cell	A lymphoid progenitor cell that is committed to the natural killer cell lineage, expressing CD122 (IL-15) receptor, but lacking many of the phenotypic characteristics of later stages of natural killer cell development such as expression of NK activating and inhibitory molecules. In human this cell has the phenotype CD34-positive, CD45RA-positive, CD10-positive, CD117-negative, and CD161 negative.		mondo.json	NKP|preNK cell|natural killer cell progenitor|pro-natural killer cell|null cell	http://purl.obolibrary.org/obo/CL_0000825		
CL:0000826	biolink:Cell	pro-B cell	A progenitor cell of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but not yet fully committed to the B cell lineage until the expression of PAX5 occurs.	BTO:0003104	mondo.json	pro-B-lymphocyte|pre-pro B cell|progenitor B-lymphocyte|pre-B cell (Philadelphia nomenclature)|progenitor B cell|pro-B-cell|pro-B lymphocyte|progenitor B-cell|progenitor B lymphocyte	http://purl.obolibrary.org/obo/CL_0000826		
CL:0000827	biolink:Cell	pro-T cell	A lymphoid progenitor cell of the T cell lineage, with some lineage specific marker expression, but not yet fully committed to the T cell lineage.		mondo.json	DN1 thymocyte|pro-T lymphocyte|DN1 cell|TN1 cell|progenitor T cell	http://purl.obolibrary.org/obo/CL_0000827		
MONDO:0011751	biolink:Disease	COPD, severe early onset		OMIM:606963	mondo.json	COPD|pulmonary disease, chronic obstructive, susceptibility to|pulmonary disease, chronic obstructive, rate of decline of lung function 1N|pulmonary disease, chronic obstructive, Severe early-onset|Copd, Severe early-onset|COPD, rate of decline of lung function in|pulmonary disease, chronic obstructive	http://purl.obolibrary.org/obo/MONDO_0011751	https://omim.org/entry/606963	obsoletion_candidate
MONDO:0011750	biolink:Disease	obsolete insulinoma tumor suppressor gene locus		OMIM:606960	mondo.json	insulinoma tumor suppressor gene locus	http://purl.obolibrary.org/obo/MONDO_0011750	https://omim.org/entry/606960	
MONDO:0011753	biolink:Disease	epilepsy, idiopathic generalized, susceptibility to, 2		DOID:0111317|OMIM:606972	mondo.json	EIG2|epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 14|epilepsy, idiopathic generalized, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0011753	https://omim.org/entry/606972|DOID:0111317	predisposition
MONDO:0011752	biolink:Disease	nephronophthisis 4	Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene.	SCTID:446989009|UMLS:C1847013|MESH:C564640|OMIM:606966|UMLS:C2959367|DOID:0111115	mondo.json	juvenile nephronophthisis 4|nephronophthisis (disease) caused by mutation in NPHP4|nephronophthisis type 4|NPHP4|nephronophthisis 4, juvenile|NPHP4 nephronophthisis (disease)|nephronophthisis 4	http://purl.obolibrary.org/obo/MONDO_0011752	https://omim.org/entry/606966|DOID:0111115|UMLS:C2959367|http://identifiers.org/mesh/C564640|http://identifiers.org/snomedct/446989009|UMLS:C1847013	
MONDO:0011755	biolink:Disease	senior-loken syndrome 3		UMLS:C1846980|MESH:C564637|OMIM:606995	mondo.json	SLSN3|SENIOR-Loken syndrome 3	http://purl.obolibrary.org/obo/MONDO_0011755	UMLS:C1846980|https://omim.org/entry/606995|http://identifiers.org/mesh/C564637	
MONDO:0011754	biolink:Disease	familial hyperreninemic hypoaldosteronism type 2		UMLS:C1846990|OMIM:606984|Orphanet:99764|MESH:C564638	mondo.json	aldosterone synthase deficiency unrelated to the aldosterone synthase gene|Fhha2|FHHA2|hyperreninemic hypoaldosteronism, familial, 2|aldosterone synthase deficiency unrelated to CYP11B2|hyperreninemic hypoaldosteronism, familial, type 2	http://purl.obolibrary.org/obo/MONDO_0011754	UMLS:C1846990|https://omim.org/entry/606984|http://identifiers.org/mesh/C564638	ordo_etiological_subtype
MONDO:0023726	biolink:Disease	mediastinal yolk sac tumor	An extragonadal non-seminomatous malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of small pale cells with small amount of cytoplasm and round to oval nuclei with small nucleoli forming a variety of patterns, including microcystic, macrocystic, pseudopapillary, myxomatous, hepatoid, polyvesicular vitelline, and solid. It manifests with respiratory distress, thoracic pain, fever, and superior vena cava syndrome.	UMLS:C1334683|GARD:0008258|NCIT:C6443	mondo.json	yolk Sac tumor of mediastinum|mediastinum yolk sac tumor|EST|yolk Sac neoplasm of the mediastinum|yolk Sac neoplasm of mediastinum|mediastinal endodermal sinus tumors|mediastinal endodermal sinus tumor|mediastinal endodermal sinus neoplasm|endodermal sinus tumor of the mediastinum|endodermal sinus tumor of mediastinum|endodermal sinus neoplasm of the mediastinum|mediastinal yolk Sac tumor|endodermal sinus neoplasm of mediastinum|mediastinal yolk Sac neoplasm|yolk Sac tumor of the mediastinum	http://purl.obolibrary.org/obo/MONDO_0023726	NCIT:C6443|UMLS:C1334683	
CL:0000839	biolink:Cell	myeloid lineage restricted progenitor cell	A progenitor cell restricted to the myeloid lineage.	BTO:0004730|FMA:70339|CALOHA:TS-2099	mondo.json	myeloid progenitor cell	http://purl.obolibrary.org/obo/CL_0000839		
MONDO:0008109	biolink:Disease	ocular cicatricial pemphigoid	Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system.	GARD:0008759|SCTID:314757003|UMLS:C1282359|EFO:0008610|NCIT:C84939|OMIM:164185	mondo.json	ocular cicatricial pemphigoid|cicatricial pemphigoid, ocular|pemphigoid, ocular cicatricial|OCP	http://purl.obolibrary.org/obo/MONDO_0008109	UMLS:C1282359|http://identifiers.org/snomedct/314757003|NCIT:C84939|https://omim.org/entry/164185	gard_rare
MONDO:0008107	biolink:Disease	nystagmus, hereditary vertical		OMIM:164150|GARD:0009604|UMLS:C1834078|MESH:C537857	mondo.json	nystagmus, hereditary vertical|congenital hereditary vertical nystagmus|hereditary vertical nystagmus	http://purl.obolibrary.org/obo/MONDO_0008107	http://identifiers.org/mesh/C537857|UMLS:C1834078|https://omim.org/entry/164150	gard_rare
NCBITaxon:40119	biolink:OrganismalEntity	Parvovirinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_40119		
MONDO:0008108	biolink:Disease	oculocerebrocutaneous syndrome	Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations.	Orphanet:1647|UMLS:C0796092|SCTID:403554008|MESH:C538088|ICD9:759.89|GARD:0000106|OMIM:164180	mondo.json	oculocerebrocutaneous syndrome|orbital cyst with cerebral and focal dermal malformations|oculo-cerebro-cutaneous syndrome|Delleman-Oorthuys syndrome|Leichtman-Wood-Rohn syndrome|OCC syndrome|OCCS|Delleman Oorthuys syndrome|Delleman syndrome	http://purl.obolibrary.org/obo/MONDO_0008108	Orphanet:1647|http://identifiers.org/snomedct/403554008|UMLS:C0796092|http://identifiers.org/mesh/C538088|https://omim.org/entry/164180	gard_rare|ordo_malformation_syndrome
MONDO:0008105	biolink:Disease	nose, anomalous shape of		GARD:0010040|MESH:C538354|OMIM:164000	mondo.json	nose, anomalous shape of|potato Nose	http://purl.obolibrary.org/obo/MONDO_0008105	http://identifiers.org/mesh/C538354|https://omim.org/entry/164000	
MONDO:0011735	biolink:Disease	hyper-IgM syndrome type 3	A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells.	Orphanet:101090|OMIM:606843|GARD:0010579|DOID:0060023	mondo.json	type 3 hyper-IgM immunodeficiency|hyper-IgM syndrome due to CD40 deficiency|CD40 deficiency|immunodeficiency with hyper IgM type 3|HIGM3|immunodeficiency with hyper-IgM, type 3|CD40 hyper-IgM syndrome|hyper-IgM syndrome caused by mutation in CD40|hyper-IgM syndrome 3|immunodeficiency with hyper-IgM type 3|hyper IgM syndrome 3	http://purl.obolibrary.org/obo/MONDO_0011735	Orphanet:101090|https://omim.org/entry/606843|DOID:0060023	gard_rare|ordo_clinical_subtype
CL:0000831	biolink:Cell	mast cell progenitor	A progenitor cell of the mast cell lineage. Markers for this cell are FceRIa-low, CD117-positive, CD9-positive, T1/ST2-positive, SCA1-negative, and lineage-negative.		mondo.json	colony forming unit mast cell|CFU-MC|CFU-Mast|MCP	http://purl.obolibrary.org/obo/CL_0000831		
MONDO:0008106	biolink:Disease	nystagmus 2, congenital, autosomal dominant		MESH:C537854|GARD:0009599|OMIM:164100	mondo.json	Nystagmus, congenital motor, 2|NYS2|Nystagmus congenital, motor 2|NYSTAGMUS 2, congenital, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008106	http://identifiers.org/mesh/C537854|https://omim.org/entry/164100	
MONDO:0011734	biolink:Disease	Cardioneuromyopathy with hyaline masses and nemaline rods		UMLS:C1847387|MESH:C564655|OMIM:606842	mondo.json	Cardioneuromyopathy with hyaline masses and nemaline rods	http://purl.obolibrary.org/obo/MONDO_0011734	UMLS:C1847387|https://omim.org/entry/606842|http://identifiers.org/mesh/C564655	
MONDO:0008103	biolink:Disease	noduli Cutanei, multiple, with urinary tract abnormalities		UMLS:C1834143|OMIM:163850|MESH:C563512	mondo.json	noduli Cutanei, multiple, with urinary tract abnormalities	http://purl.obolibrary.org/obo/MONDO_0008103	https://omim.org/entry/163850|http://identifiers.org/mesh/C563512|UMLS:C1834143	
MONDO:0011737	biolink:Disease	parkinson disease 10		OMIM:606852|UMLS:C1847360|MESH:C564653	mondo.json	Parkinson disease, Age at onset of|Parkinson disease 10|PARK10	http://purl.obolibrary.org/obo/MONDO_0011737	http://identifiers.org/mesh/C564653|UMLS:C1847360|https://omim.org/entry/606852	
MONDO:0008104	biolink:Disease	Noonan syndrome 1	Noonan syndrome caused by mutations in the PTPN11 gene.	UMLS:C4551602|NCIT:C75459|GARD:0007223|DOID:0060578|OMIM:163950	mondo.json	Turner phenotype with normal karyotype|NS1|female pseudo-Turner syndrome|Noonan syndrome type 1|Noonan syndrome|Noonan syndrome 1|Male Turner syndrome|pterygium colli syndrome	http://purl.obolibrary.org/obo/MONDO_0008104	https://omim.org/entry/163950|DOID:0060578|UMLS:C4551602|NCIT:C75459	
MONDO:0011736	biolink:Disease	Cree intellectual disability syndrome		OMIM:606851|UMLS:C1847361|MESH:C564654	mondo.json	Cree intellectual disability syndrome|Cree mental retardation syndrome	http://purl.obolibrary.org/obo/MONDO_0011736	http://identifiers.org/mesh/C564654|UMLS:C1847361|https://omim.org/entry/606851	
MONDO:0008101	biolink:Disease	familial supernumerary nipples	Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported.	OMIM:163700|Orphanet:2456	mondo.json	accessory nipples|nipples, supernumerary|polymastia|isolated polythelia|polythelia, familial	http://purl.obolibrary.org/obo/MONDO_0008101	Orphanet:2456|https://omim.org/entry/163700	ordo_morphological_anomaly
MONDO:0011739	biolink:Disease	pancreatic cancer, susceptibility to, 1	Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene.	OMIM:606856	mondo.json	Pnca1|pancreatic cancer, susceptibility to, 1|PALLD familial pancreatic carcinoma|susceptibility to pancreatic cancer 1|pancreatic cancer, susceptibility to, type 1|familial pancreatic carcinoma caused by mutation in PALLD	http://purl.obolibrary.org/obo/MONDO_0011739	https://omim.org/entry/606856	predisposition
CL:0000835	biolink:Cell	myeloblast	The most primitive precursor in the granulocytic series, having fine, evenly distributed chromatin, several nucleoli, a high nuclear-to-cytoplasmic ration (5:1-7:1), and a nongranular basophilic cytoplasm. They reside in the bone marrow.	BTO:0000187|FMA:83524	mondo.json		http://purl.obolibrary.org/obo/CL_0000835		
MONDO:0011738	biolink:Disease	bilateral frontoparietal polymicrogyria	Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.	UMLS:C1847352|OMIM:606854|NCIT:C148367|Orphanet:101070|MESH:C564652|GARD:0010784	mondo.json	cerebellar ataxia with neuronal migration defect|BFPP|bilateral frontoparietal polymicrogyria|polymicrogyria, bilateral frontoparietal	http://purl.obolibrary.org/obo/MONDO_0011738	http://identifiers.org/mesh/C564652|Orphanet:101070|UMLS:C1847352|NCIT:C148367|https://omim.org/entry/606854	ordo_clinical_subtype|gard_rare
MONDO:0008102	biolink:Disease	sick sinus syndrome 2, autosomal dominant	Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene.	OMIM:163800|UMLS:C1834144|MESH:C563513	mondo.json	sinus node disease, familial, autosomal dominant|sick sinus syndrome caused by mutation in HCN4|atrial fibrillation with Bradyarrhythmia|sick sinus syndrome 2|HCN4 sick sinus syndrome|sick sinus syndrome 2 with or without Cardiac noncompaction and/Or ascending aorta dilation|Sss, autosomal dominant|SSS2|sinus bradycardia syndrome, familial, autosomal dominant|sick sinus syndrome 2, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008102	http://identifiers.org/mesh/C563513|UMLS:C1834144|https://omim.org/entry/163800	
CL:0000837	biolink:Cell	hematopoietic multipotent progenitor cell	A hematopoietic multipotent progenitor cell is multipotent, but not capable of long-term self-renewal. These cells are characterized as lacking lineage cell surface markers and being CD34-positive in both mice and humans.	CALOHA:TS-0448|BTO:0000725	mondo.json	hemopoietic progenitor cell|MPP	http://purl.obolibrary.org/obo/CL_0000837		
CL:0000838	biolink:Cell	lymphoid lineage restricted progenitor cell	A progenitor cell restricted to the lymphoid lineage.	BTO:0004731|FMA:70338|CALOHA:TS-2025	mondo.json	lymphoid progenitor cell	http://purl.obolibrary.org/obo/CL_0000838		
MONDO:0008100	biolink:Disease	nipples inverted		OMIM:163600	mondo.json	Mammillae Invertitae|nipples inverted	http://purl.obolibrary.org/obo/MONDO_0008100	https://omim.org/entry/163600	
MONDO:0011740	biolink:Disease	Carney-Stratakis syndrome	Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.	SCTID:722377004|Orphanet:97286|UMLS:C1847319|DOID:0080533|GARD:0010643|MESH:C564650|NCIT:C94831|OMIM:606864	mondo.json	paraganglioma and gastric stromal sarcoma|Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma|gist-paraganglioma dyad|Carney-Stratakis dyad|paraganglioma and gist|Carney dyad|paraganglioma and gastrointestinal stromal tumor|Carney-Stratakis syndrome	http://purl.obolibrary.org/obo/MONDO_0011740	UMLS:C1847319|http://identifiers.org/snomedct/722377004|https://omim.org/entry/606864|NCIT:C94831|DOID:0080533|Orphanet:97286|http://identifiers.org/mesh/C564650	ordo_disease
MONDO:0011742	biolink:Disease	hirschsprung disease, susceptibility to, 7		OMIM:606875	mondo.json	Hirschsprung disease, susceptibility to, 7|HSCR7	http://purl.obolibrary.org/obo/MONDO_0011742	https://omim.org/entry/606875	predisposition
CHEBI:17514	biolink:ChemicalSubstance	cyanide	A pseudohalide anion that is the conjugate base of hydrogen cyanide.		mondo.json	CN-|CYANIDE ION|cyanide|Cyanide|Prussiate|CN(-)|Zyanid|nitridocarbonate(1-)	http://purl.obolibrary.org/obo/CHEBI_17514		
MONDO:0011741	biolink:Disease	hirschsprung disease, susceptibility to, 6		OMIM:606874	mondo.json	Hirschsprung disease, susceptibility to, 6|HSCR6	http://purl.obolibrary.org/obo/MONDO_0011741	https://omim.org/entry/606874	predisposition
MONDO:0011744	biolink:Disease	primary intraosseous venous malformation	Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.	Orphanet:140436|OMIM:606893|MESH:C564648|UMLS:C1847197|SCTID:764100007	mondo.json	osseous venous malformation|hemangioma, intraosseous|vascular malformation, primary intraosseous|intraosseous hemangioma|vascular malformation osseous	http://purl.obolibrary.org/obo/MONDO_0011744	UMLS:C1847197|Orphanet:140436|https://omim.org/entry/606893|http://identifiers.org/snomedct/764100007|http://identifiers.org/mesh/C564648	ordo_disease
MONDO:0011743	biolink:Disease	Alzheimer disease 4	Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene.	NCIT:C123413|OMIM:606889|UMLS:C1847200|DOID:0110040|GARD:0009469|MESH:C536596	mondo.json	Ad4|Alzheimer's disease 4|Alzheimer disease type 4|Alzheimer disease familial type 4|AD4|Alzheimer disease, familial4|Alzheimer's disease type 4|familial Alzheimer disease, type 4|Alzheimer disease-4|Alzheimer disease, familial, 4|Alzheimer disease 4|familial Alzheimer's disease, type 4	http://purl.obolibrary.org/obo/MONDO_0011743	UMLS:C1847200|NCIT:C123413|https://omim.org/entry/606889|http://identifiers.org/mesh/C536596|DOID:0110040	
GO:0005737	biolink:NamedThing	cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.		mondo.json		http://purl.obolibrary.org/obo/GO_0005737		
GO:0005730	biolink:NamedThing	nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.		mondo.json		http://purl.obolibrary.org/obo/GO_0005730		
CHEBI:136849	biolink:ChemicalSubstance	3-oxo-Delta(4)-steroid group	An organic group derived from any 3-oxo-Delta(4)-steroid.		mondo.json	a 3-oxo-Delta4-steroid group	http://purl.obolibrary.org/obo/CHEBI_136849		
UBERON:0007652	biolink:AnatomicalEntity	esophageal sphincter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007652		
UBERON:0007651	biolink:AnatomicalEntity	anatomical junction			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007651		
UBERON:0007650	biolink:AnatomicalEntity	esophagogastric junction			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007650		
NCBITaxon:5234	biolink:OrganismalEntity	Tremellales		PMID:17572334|GC_ID:1	mondo.json	jelly fungi	http://purl.obolibrary.org/obo/NCBITaxon_5234		
GO:0005739	biolink:NamedThing	mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.		mondo.json	mitochondria	http://purl.obolibrary.org/obo/GO_0005739		
GO:0005747	biolink:NamedThing	mitochondrial respiratory chain complex I	A protein complex located in the mitochondrial inner membrane that forms part of the mitochondrial respiratory chain. It contains about 25 different polypeptide subunits, including NADH dehydrogenase (ubiquinone), flavin mononucleotide and several different iron-sulfur clusters containing non-heme iron. The iron undergoes oxidation-reduction between Fe(II) and Fe(III), and catalyzes proton translocation linked to the oxidation of NADH by ubiquinone.		mondo.json		http://purl.obolibrary.org/obo/GO_0005747		
GO:0005746	biolink:NamedThing	mitochondrial respirasome	The protein complexes that form the mitochondrial electron transport system (the respiratory chain), associated with the inner mitochondrial membrane. The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient.		mondo.json	mitochondrial electron transport chain|mitochondrial respiratory supercomplex|mitochondrial respiratory chain supercomplex|mitochondrial respiratory chain	http://purl.obolibrary.org/obo/GO_0005746		
GO:0005743	biolink:NamedThing	mitochondrial inner membrane	The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae.		mondo.json	inner mitochondrion membrane|mitochondrion inner membrane|inner mitochondrial membrane	http://purl.obolibrary.org/obo/GO_0005743		
NCBITaxon:7898	biolink:OrganismalEntity	Actinopterygii		GC_ID:1	mondo.json	ray-finned fishes|bony fishes|fish|Actinopterygi|Osteichthyes|fishes	http://purl.obolibrary.org/obo/NCBITaxon_7898		
GO:0005740	biolink:NamedThing	mitochondrial envelope	The double lipid bilayer enclosing the mitochondrion and separating its contents from the cell cytoplasm; includes the intermembrane space.		mondo.json		http://purl.obolibrary.org/obo/GO_0005740		
CHEBI:136859	biolink:ChemicalSubstance	pro-agent	A compound that, on administration, undergoes conversion by biochemical (enzymatic), chemical (possibly following an enzymatic step), or physical (e.g. photochemical) activation processes before becoming the active agent for which it is a pro-agent.		mondo.json	pro-agents|proagents|proagent	http://purl.obolibrary.org/obo/CHEBI_136859		
UBERON:0007641	biolink:AnatomicalEntity	trigeminal nuclear complex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007641		
CHEBI:78433	biolink:ChemicalSubstance	refrigerant	A substance used in a thermodynamic heat pump cycle or refrigeration cycle that undergoes a phase change from a gas to a liquid and back. Refrigerants are used in air-conditioning systems and freezers or refrigerators and are assigned a "R" number (by ASHRAE - formerly the American Society of Heating, Refrigerating and Air Conditioning Engineers), which is determined systematically according to their molecular structure.		mondo.json	refrigerants	http://purl.obolibrary.org/obo/CHEBI_78433		
UBERON:0007647	biolink:AnatomicalEntity	ectomeninx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007647		
UBERON:0007646	biolink:AnatomicalEntity	endomeninx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007646		
UBERON:0007645	biolink:AnatomicalEntity	future meninx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007645		
UBERON:0007644	biolink:AnatomicalEntity	thoracic lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007644		
NCBITaxon:5206	biolink:OrganismalEntity	Cryptococcus <basidiomycete fungi>		GC_ID:1|PMID:34380577	mondo.json	Cryptococcus|Filobasidiella	http://purl.obolibrary.org/obo/NCBITaxon_5206		
NCBITaxon:5207	biolink:OrganismalEntity	Cryptococcus neoformans		GC_ID:1	mondo.json	Lipomyces neoformans|Filobasidiella neoformans|Debaryomyces neoformans|Blastomyces neoformans|Torulopsis neoformans|Saccharomyces neoformans|Torula neoformans	http://purl.obolibrary.org/obo/NCBITaxon_5207		
NCBITaxon:5204	biolink:OrganismalEntity	Basidiomycota		GC_ID:1	mondo.json	basidiomycetes|basidiomycete fungi	http://purl.obolibrary.org/obo/NCBITaxon_5204		
HP:0000297	biolink:PhenotypicFeature	Facial hypotonia	Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).	UMLS:C1845251|UMLS:C4280646	mondo.json	Hypotonic facies|Atony of facial musculature|Low facial muscle tone|Decreased facial muscle tone|Reduced facial muscle tone	http://purl.obolibrary.org/obo/HP_0000297		
GO:0042701	biolink:NamedThing	progesterone secretion	The regulated release of progesterone, a steroid hormone, by the corpus luteum of the ovary and by the placenta.		mondo.json		http://purl.obolibrary.org/obo/GO_0042701		
OBO:mondo#NON_HUMAN	biolink:NamedThing	A synonym that is used for non-human animal variants of a disease			mondo.json		http://purl.obolibrary.org/obo/mondo#NON_HUMAN		
HP:0000290	biolink:PhenotypicFeature	Abnormality of the forehead	An anomaly of the forehead.	UMLS:C4025867	mondo.json	Abnormality of the forehead|Abnormality of the frontal region of the face|Malformation of the forehead|Deformity of the forehead|Anomaly of the forehead	http://purl.obolibrary.org/obo/HP_0000290		hposlim_core
UBERON:0007635	biolink:AnatomicalEntity	nucleus of medulla oblongata			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007635		
GO:0005719	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0005719		
CL:1000909	biolink:Cell	kidney loop of Henle epithelial cell		KUPO:0001047	mondo.json		http://purl.obolibrary.org/obo/CL_1000909		
GO:0005724	biolink:NamedThing	obsolete nuclear telomeric heterochromatin	OBSOLETE. Heterochromatic regions of the chromosome found at the telomeres of a chromosome in the nucleus.		mondo.json		http://purl.obolibrary.org/obo/GO_0005724		
UBERON:0007619	biolink:AnatomicalEntity	limiting membrane of retina			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007619		
GO:0005720	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0005720		
GO:0042713	biolink:NamedThing	sperm ejaculation	The expulsion of seminal fluid, thick white fluid containing spermatozoa, from the male genital tract.		mondo.json		http://purl.obolibrary.org/obo/GO_0042713		
UBERON:0007625	biolink:AnatomicalEntity	pigment epithelium of eye			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007625		
MONDO:0011809	biolink:Disease	obsolete mammographic density		OMIM:607308|MESH:C564595	mondo.json	mammographic density	http://purl.obolibrary.org/obo/MONDO_0011809	https://omim.org/entry/607308|http://identifiers.org/mesh/C564595	
MONDO:0011808	biolink:Disease	cataract 27	A cataract that has material basis in mutation in the region 2p12.	UMLS:C1846520|MESH:C564596|OMIM:607304|DOID:0110233	mondo.json	cataract type 27|cataract 27|CTRCT27|cataract 27 nuclear progressive|cataract 27, nuclear progressive|Ccnp	http://purl.obolibrary.org/obo/MONDO_0011808	https://omim.org/entry/607304|UMLS:C1846520|DOID:0110233|http://identifiers.org/mesh/C564596	
MONDO:0011801	biolink:Disease	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.	DOID:0090115|SCTID:765091006|Orphanet:94124|GARD:0010000|MESH:C537313|GARD:10000|UMLS:C1846574|OMIM:607250	mondo.json	SCAN1|spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1|spinocerebellar ataxia, autosomal recessive, with axonal neuropathy|spinocerebellar ataxia with axonal neuropathy type 1|autosomal recessive spinocerebellar ataxia with axonal neuropathy|spinocerebellar ataxia with axonal neuropathy|spinocerebellar ataxia type 1 with axonal neuropathy|spinocerebellar ataxia autosomal recessive with axonal neuropathy	http://purl.obolibrary.org/obo/MONDO_0011801	UMLS:C1846574|http://identifiers.org/mesh/C537313|DOID:0090115|http://identifiers.org/snomedct/765091006|Orphanet:94124|https://omim.org/entry/607250	ordo_disease
MONDO:0011800	biolink:Disease	glioma susceptibility 4		OMIM:607248|UMLS:C2750944	mondo.json	GLM4|glioma susceptibility 4	http://purl.obolibrary.org/obo/MONDO_0011800	UMLS:C2750944|https://omim.org/entry/607248	
MONDO:0011803	biolink:Disease	hereditary spastic paraplegia 7	Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.	Orphanet:99013|DOID:0110816|MESH:C564599|OMIM:607259|UMLS:C1846564|UMLS:C3711370|SCTID:715776003|GARD:0004927	mondo.json	hereditary spastic paraplegia 7|spastic paraplegia 7, autosomal recessive|spastic paraplegia type 7|SPG7|spastic paraplegia 7|hereditary spastic paraplegia type 7|hereditary spastic paraplegia caused by mutation in SPG7|SPG7 hereditary spastic paraplegia|autosomal recessive spastic paraplegia 7|hereditary spastic paraplegia paraplegin type	http://purl.obolibrary.org/obo/MONDO_0011803	UMLS:C1846564|Orphanet:99013|UMLS:C3711370|http://identifiers.org/mesh/C564599|DOID:0110816|http://identifiers.org/snomedct/715776003|https://omim.org/entry/607259	ordo_disease
MONDO:0011802	biolink:Disease	hypercalciuria, absorptive, 1		MESH:C564600|OMIM:607258|UMLS:C1846573	mondo.json	hypercalciuria, absorptive, type 1|hypercalciuria, absorptive, 1|hypercalciuria, absorptive|Hca1	http://purl.obolibrary.org/obo/MONDO_0011802	UMLS:C1846573|http://identifiers.org/mesh/C564600|https://omim.org/entry/607258	
MONDO:0011805	biolink:Disease	asthma-related traits, susceptibility to, 1	Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the PTGDR gene.	UMLS:C1846534|OMIM:607277	mondo.json	asthma-related traits, susceptibility to, type 1|asthma-related traits, susceptibility to, 1|AS1|asthma, susceptibility to, 1|ASRT1|PTGDR inherited susceptibility to asthma|inherited susceptibility to asthma caused by mutation in PTGDR	http://purl.obolibrary.org/obo/MONDO_0011805	https://omim.org/entry/607277|UMLS:C1846534	predisposition
MONDO:0011804	biolink:Disease	autoimmune lymphoproliferative syndrome type 2B	Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.	Orphanet:275517|SCTID:722290008|OMIM:607271|DOID:0110116|GARD:0009796	mondo.json	caspase-8 deficiency|CEDS|autoimmune lymphoproliferative syndrome with recurrent viral infections|CASP8 autoimmune lymphoproliferative syndrome|caspase eight deficiency state|autoimmune lymphoproliferative syndrome type IIB|caspase 8 deficiency|autoimmune lymphoproliferative syndrome caused by mutation in CASP8|autoimmune lymphoproliferative syndrome, type 2B|ALPS2B|autoimmune lymphoproliferative syndrome, type IIB|Ceds|ALPS with recurrent viral infections|caspase 8 deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0011804	https://omim.org/entry/607271|http://identifiers.org/snomedct/722290008|DOID:0110116|Orphanet:275517	ordo_disease
MONDO:0011807	biolink:Disease	systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1		OMIM:607279	mondo.json	systemic lupus erythematosus with hemolytic anemia|systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1|systemic lupus erythematosus, hemolytic Anemia-related|SLEH1	http://purl.obolibrary.org/obo/MONDO_0011807	https://omim.org/entry/607279	predisposition
MONDO:0011806	biolink:Disease	osteofibrous dysplasia	A benign, usually self-limited fibro-osseous lesion of the bone that affects infants and children. It usually arises from the cortical bone of the anterior mid-shaft of the tibia. Patients usually present with swelling or painless bowing of the tibia. Progression to adamantinoma has been reported in some cases.	UMLS:C1836723|NCIT:C53970|MESH:C563787|OMIM:609143|MESH:C563276|UMLS:C1709353|Orphanet:488265|OMIM:607278	mondo.json	OFD|Kempson-Campanacci lesion|osteofibrous dysplasia, susceptibility to|ossifying fibroma of long bones|tibia, bowing of, with pseudarthrosis and pectus excavatum|OSFD|cortical fibrous dysplasia|osteofibrous dysplasia of bone|osteofibrous dysplasia	http://purl.obolibrary.org/obo/MONDO_0011806	UMLS:C1709353|https://omim.org/entry/607278|NCIT:C53970|Orphanet:488265|http://identifiers.org/mesh/C563276|https://omim.org/entry/609143|http://identifiers.org/mesh/C563787|UMLS:C1836723	ordo_disease
UBERON:0005034	biolink:AnatomicalEntity	mucosa of right main bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005034		
CHR:9606-chr14q11	biolink:NamedThing	14q11 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr14q11		
UBERON:0005035	biolink:AnatomicalEntity	mucosa of left main bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005035		
UBERON:0005032	biolink:AnatomicalEntity	mucosa of lower lip			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005032		
CHR:9606-chr14q12	biolink:NamedThing	14q12 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr14q12		
UBERON:0005033	biolink:AnatomicalEntity	mucosa of gallbladder			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005033		
UBERON:0005030	biolink:AnatomicalEntity	mucosa of paranasal sinus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005030		
UBERON:0007692	biolink:AnatomicalEntity	nucleus of thalamus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007692		
UBERON:0005031	biolink:AnatomicalEntity	mucosa of upper lip			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005031		
MONDO:0011810	biolink:Disease	horizontal gaze palsy with progressive scoliosis	Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.	Orphanet:2744|UMLS:C1846496|ICD10CM:H49.4|MESH:C564593|GARD:0012682|OMIMPS:607313|SCTID:702381007|ICD9:737.43	mondo.json	gaze palsy, familial horizontal, with progressive scoliosis|HGPPS|progressive external ophthalmoplegia and scoliosis|gaze palsy, horizontal, with progressive scoliosis|ophthalmoplegia, progressive external, and scoliosis	http://purl.obolibrary.org/obo/MONDO_0011810	Orphanet:2744|http://identifiers.org/mesh/C564593|http://identifiers.org/snomedct/702381007|https://omim.org/phenotypicSeries/PS607313|UMLS:C1846496	ordo_disease|prototype_pattern|gard_rare
UBERON:0007691	biolink:AnatomicalEntity	gustatory pore			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007691		
UBERON:0007690	biolink:AnatomicalEntity	early pharyngeal endoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007690		
ENVO:09000019	biolink:NamedThing	concentration of chloride in water	The concentration of a chloride when measured in water.		mondo.json	water chloride concentration	http://purl.obolibrary.org/obo/ENVO_09000019		
ENVO:09000017	biolink:NamedThing	concentration of nitrogen atom in soil	The concentration of a nitrogen atom when measured in soil.		mondo.json	soil nitrogen atom concentration	http://purl.obolibrary.org/obo/ENVO_09000017		
ENVO:09000018	biolink:NamedThing	concentration of nitrogen atom in water	The concentration of a nitrogen atom when measured in water.		mondo.json	water nitrogen atom concentration	http://purl.obolibrary.org/obo/ENVO_09000018		
ENVO:09000015	biolink:NamedThing	amount of nitrogen atom in water	The amount of a nitrogen atom when measured in water.		mondo.json	water nitrogen atom amount	http://purl.obolibrary.org/obo/ENVO_09000015		
UBERON:0005038	biolink:AnatomicalEntity	mucosa of segmental bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005038		
ENVO:09000016	biolink:NamedThing	concentration of nitrogen atom in environmental material	The concentration of a nitrogen atom when measured in environmental material.		mondo.json	environmental material nitrogen atom concentration	http://purl.obolibrary.org/obo/ENVO_09000016		
UBERON:0005039	biolink:AnatomicalEntity	mucosa of bronchiole			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005039		
ENVO:09000013	biolink:NamedThing	amount of nitrogen atom in environmental material	The amount of a nitrogen atom when measured in environmental material.		mondo.json	environmental material nitrogen atom amount	http://purl.obolibrary.org/obo/ENVO_09000013		
UBERON:0007699	biolink:AnatomicalEntity	tract of spinal cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007699		
UBERON:0005036	biolink:AnatomicalEntity	mucosa of main bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005036		
ENVO:09000014	biolink:NamedThing	amount of nitrogen atom in soil	The amount of a nitrogen atom when measured in soil.		mondo.json	soil nitrogen atom amount	http://purl.obolibrary.org/obo/ENVO_09000014		
UBERON:0005037	biolink:AnatomicalEntity	mucosa of lobar bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005037		
UBERON:0005023	biolink:AnatomicalEntity	mucosa of oropharynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005023		
UBERON:0007685	biolink:AnatomicalEntity	region of nephron tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007685		
UBERON:0005024	biolink:AnatomicalEntity	mucosa of soft palate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005024		
UBERON:0005021	biolink:AnatomicalEntity	mucosa of sphenoidal sinus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005021		
UBERON:0007684	biolink:AnatomicalEntity	uriniferous tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007684		
GO:0042737	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0042737		
UBERON:0005022	biolink:AnatomicalEntity	mucosa of nasopharynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005022		
UBERON:0005020	biolink:AnatomicalEntity	mucosa of tongue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005020		
ENVO:09000008	biolink:NamedThing	concentration of carbon atom in soil	The concentration of a carbon atom when measured in soil.		mondo.json	soil carbon atom concentration	http://purl.obolibrary.org/obo/ENVO_09000008		
ENVO:09000009	biolink:NamedThing	concentration of carbon atom in water	The concentration of a carbon atom when measured in water.		mondo.json	water carbon atom concentration	http://purl.obolibrary.org/obo/ENVO_09000009		
ENVO:09000006	biolink:NamedThing	amount of carbon atom in water	The amount of a carbon atom when measured in water.		mondo.json	water carbon atom amount	http://purl.obolibrary.org/obo/ENVO_09000006		
UBERON:0005029	biolink:AnatomicalEntity	mucosa of lacrimal canaliculus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005029		
ENVO:09000007	biolink:NamedThing	concentration of carbon atom in environmental material	The concentration of a carbon atom when measured in environmental material.		mondo.json	environmental material carbon atom concentration	http://purl.obolibrary.org/obo/ENVO_09000007		
HGNC:3214	biolink:NamedThing	EEF2			mondo.json		http://identifiers.org/hgnc/3214		
ENVO:09000004	biolink:NamedThing	amount of carbon atom in environmental material	The amount of a carbon atom when measured in environmental material.		mondo.json	environmental material carbon atom amount	http://purl.obolibrary.org/obo/ENVO_09000004		
UBERON:0005027	biolink:AnatomicalEntity	mucosa of frontal sinus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005027		
UBERON:0005028	biolink:AnatomicalEntity	mucosa of maxillary sinus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005028		
ENVO:09000005	biolink:NamedThing	amount of carbon atom in soil	The amount of a carbon atom when measured in soil.		mondo.json	soil carbon atom amount	http://purl.obolibrary.org/obo/ENVO_09000005		
UBERON:0007689	biolink:AnatomicalEntity	thyroid diverticulum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007689		
HGNC:5870	biolink:NamedThing	IGLL1			mondo.json		http://identifiers.org/hgnc/5870		
UBERON:0007688	biolink:AnatomicalEntity	anlage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007688		
UBERON:0005025	biolink:AnatomicalEntity	mucosa of uvula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005025		
UBERON:0007687	biolink:AnatomicalEntity	kidney field			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007687		
UBERON:0005026	biolink:AnatomicalEntity	mucosa of middle ear			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005026		
HGNC:3219	biolink:NamedThing	EFEMP2			mondo.json		http://identifiers.org/hgnc/3219		
HGNC:3218	biolink:NamedThing	EFEMP1			mondo.json		http://identifiers.org/hgnc/3218		
HGNC:22197	biolink:NamedThing	AP5Z1			mondo.json		http://identifiers.org/hgnc/22197		
GO:0042747	biolink:NamedThing	circadian sleep/wake cycle, REM sleep	A stage in the circadian sleep cycle during which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity.		mondo.json		http://purl.obolibrary.org/obo/GO_0042747		
UBERON:0005012	biolink:AnatomicalEntity	mucosa of left uterine tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005012		
UBERON:0005013	biolink:AnatomicalEntity	mucosa of male urethra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005013		
UBERON:0005010	biolink:AnatomicalEntity	mucosa of neck of urinary bladder			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005010		
GO:0042749	biolink:NamedThing	regulation of circadian sleep/wake cycle	Any process that modulates the frequency, rate or extent of the circadian sleep/wake cycle.		mondo.json		http://purl.obolibrary.org/obo/GO_0042749		
UBERON:0005011	biolink:AnatomicalEntity	mucosa of right uterine tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005011		
GO:0042742	biolink:NamedThing	defense response to bacterium	Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism.		mondo.json	defense response to bacterium, incompatible interaction|defence response to bacterium|resistance response to pathogenic bacteria|defense response to bacteria|defence response to bacteria|resistance response to pathogenic bacterium|antibacterial peptide activity	http://purl.obolibrary.org/obo/GO_0042742		
GO:0042745	biolink:NamedThing	circadian sleep/wake cycle	The cycle from wakefulness through an orderly succession of sleep states and stages that occurs on an approximately 24 hour rhythm.		mondo.json		http://purl.obolibrary.org/obo/GO_0042745		
HGNC:3226	biolink:NamedThing	EFNB1			mondo.json		http://identifiers.org/hgnc/3226		
UBERON:0005019	biolink:AnatomicalEntity	mucosa of palate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005019		
UBERON:0005017	biolink:AnatomicalEntity	mucosa of lacrimal sac			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005017		
UBERON:0005014	biolink:AnatomicalEntity	mucosa of female urethra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005014		
UBERON:0005015	biolink:AnatomicalEntity	mucosa of prostatic urethra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005015		
CHEBI:30436	biolink:ChemicalSubstance	tetrahydropterin			mondo.json	tetrahydropterins|tetrahydropteridines	http://purl.obolibrary.org/obo/CHEBI_30436		
ENVO:00000097	biolink:NamedThing	desert area	A region rendered barren or partially barren by environmental extremes, especially by low rainfall.		mondo.json	arid region	http://purl.obolibrary.org/obo/ENVO_00000097		
OBO:mondo#disease_has_basis_in_accumulation_of	biolink:NamedThing	disease has basis in accumulation of			mondo.json		http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_accumulation_of		
HGNC:3229	biolink:NamedThing	EGF			mondo.json		http://identifiers.org/hgnc/3229		
GO:0042752	biolink:NamedThing	regulation of circadian rhythm	Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours.		mondo.json		http://purl.obolibrary.org/obo/GO_0042752		
UBERON:0005001	biolink:AnatomicalEntity	mucosa of common hepatic duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005001		
UBERON:0005002	biolink:AnatomicalEntity	mucosa of right hepatic duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005002		
UBERON:0005000	biolink:AnatomicalEntity	mucosa of common bile duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005000		
GO:0042754	biolink:NamedThing	negative regulation of circadian rhythm	Any process that stops, prevents, or reduces the frequency, rate or extent of a circadian rhythm behavior.		mondo.json	downregulation of circadian rhythm|down regulation of circadian rhythm|inhibition of circadian rhythm|down-regulation of circadian rhythm	http://purl.obolibrary.org/obo/GO_0042754		
GO:0042753	biolink:NamedThing	positive regulation of circadian rhythm	Any process that activates or increases the frequency, rate or extent of a circadian rhythm behavior.		mondo.json	up-regulation of circadian rhythm|activation of circadian rhythm|upregulation of circadian rhythm|up regulation of circadian rhythm|stimulation of circadian rhythm	http://purl.obolibrary.org/obo/GO_0042753		
GO:0042755	biolink:NamedThing	eating behavior	The specific behavior of an organism relating to the intake of food, any substance (usually solid) that can be metabolized by an organism to give energy and build tissue.		mondo.json	eating behaviour	http://purl.obolibrary.org/obo/GO_0042755		
UBERON:0005009	biolink:AnatomicalEntity	mucosa of trigone of urinary bladder			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005009		
HGNC:3239	biolink:NamedThing	EGR2			mondo.json		http://identifiers.org/hgnc/3239		
CHEBI:17478	biolink:ChemicalSubstance	aldehyde	A compound RC(=O)H, in which a carbonyl group is bonded to one hydrogen atom and to one R group.		mondo.json	Aldehyde|aldehyde|an aldehyde|aldehydum|aldehidos|aldehydes|aldehido|RC(=O)H|RCHO|Aldehyd|aldehydes	http://purl.obolibrary.org/obo/CHEBI_17478		
HGNC:3236	biolink:NamedThing	EGFR			mondo.json		http://identifiers.org/hgnc/3236		
UBERON:0005005	biolink:AnatomicalEntity	mucosa of left ureter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005005		
UBERON:0005006	biolink:AnatomicalEntity	mucosa of renal pelvis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005006		
HGNC:3233	biolink:NamedThing	MEGF8			mondo.json		http://identifiers.org/hgnc/3233		
UBERON:0005003	biolink:AnatomicalEntity	mucosa of left hepatic duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005003		
UBERON:0005004	biolink:AnatomicalEntity	mucosa of right ureter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0005004		
PO:0000003	biolink:NamedThing	whole plant	A plant structure (PO:0005679) which is a whole organism.	PO_GIT:69|PO_GIT:538	mondo.json	prothalli (narrow)|shrub (narrow)|ramet (broad)|vine (narrow)|woody clump (narrow)|herb (narrow)|prothallus (narrow)|tree (narrow)|frutex (narrow)|colony (related)|prothallium (narrow)|植物体全体 (Japanese, exact)|suffrutex (narrow)|clonal colony (related)|frutices (narrow)|sporophyte (narrow)|planta entera (Spanish, exact)|gametophyte (narrow)|suffrutices (narrow)|seedling (narrow)|liana (narrow)|genet (broad)|bush (narrow)	http://purl.obolibrary.org/obo/PO_0000003		TraitNet|reference
ENVO:00000063	biolink:NamedThing	water body	An accumulation of water of varying size.		mondo.json	bodies of water|body of water|waterbody|aquatic feature|hydrographic feature	http://purl.obolibrary.org/obo/ENVO_00000063		
HP:0000238	biolink:PhenotypicFeature	Hydrocephalus	Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.	UMLS:C0020255|SNOMEDCT_US:230745008|MSH:D006849	mondo.json	Too much cerebrospinal fluid in the brain|Nonsyndromal hydrocephalus|Hydrocephaly	http://purl.obolibrary.org/obo/HP_0000238		
FOODON:00001871	biolink:NamedThing	food product analog			mondo.json		http://purl.obolibrary.org/obo/FOODON_00001871		
HP:0000230	biolink:PhenotypicFeature	Gingivitis	Inflammation of the gingiva.	MSH:D005891|UMLS:C0017574|SNOMEDCT_US:66383009	mondo.json	Inflamed gums|Gingival inflammation|Red and swollen gums	http://purl.obolibrary.org/obo/HP_0000230		hposlim_core
HP:0000233	biolink:PhenotypicFeature	Thin vermilion border	Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).	UMLS:C0578038|SNOMEDCT_US:301348000	mondo.json	Thin vermillion|Decreased volume of lip|Thin lips|Decreased volume of lip vermillion|Thin vermilion borders	http://purl.obolibrary.org/obo/HP_0000233		
HP:0000234	biolink:PhenotypicFeature	Abnormality of the head	An abnormality of the head.	UMLS:C4021812	mondo.json	Head abnormality|Abnormal head|Abnormality of the head	http://purl.obolibrary.org/obo/HP_0000234		
GO:0015136	biolink:NamedThing	sialic acid transmembrane transporter activity	Enables the transfer of sialic acid from one side of a membrane to the other.		mondo.json		http://purl.obolibrary.org/obo/GO_0015136		
HP:0012210	biolink:PhenotypicFeature	Abnormal renal morphology	Any structural anomaly of the kidney.	Fyler:4512|SNOMEDCT_US:44513007|UMLS:C0266292	mondo.json	Abnormal kidney morphology|Kidney structure issue|Structural kidney abnormalities|Abnormally shaped kidney|Kidney malformation|Structural renal anomalies|Structural anomalies of the renal tract|Renal malformation	http://purl.obolibrary.org/obo/HP_0012210		
HP:0012211	biolink:PhenotypicFeature	Abnormal renal physiology	An abnormal functionality of the kidney.	SNOMEDCT_US:39539005|UMLS:C0151746	mondo.json	Abnormal kidney function|Kidney function issue|Abnormal renal function|Abnormality of renal physiology|Renal functional abnormality	http://purl.obolibrary.org/obo/HP_0012211		
ENVO:00000073	biolink:NamedThing	building	A permanent walled and roofed construction.		mondo.json	building|BUILDING	http://purl.obolibrary.org/obo/ENVO_00000073		
ENVO:00000070	biolink:NamedThing	human construction	A construction that has been assembled by deliberate human effort.		mondo.json	constructed feature	http://purl.obolibrary.org/obo/ENVO_00000070		
FOODON:00001882	biolink:NamedThing	fruit based alcoholic beverage			mondo.json		http://purl.obolibrary.org/obo/FOODON_00001882		
HP:0000243	biolink:PhenotypicFeature	Trigonocephaly	Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.	MSH:D003398|UMLS:C4280666|UMLS:C4280665|SNOMEDCT_US:28740008|UMLS:C0265535	mondo.json	Wedge shaped cranium|Triangular skull shape|Triangular head shape|Triangular cranium shape|Wedge shaped skull|Wedge shaped head	http://purl.obolibrary.org/obo/HP_0000243		hposlim_core
GO:0015149	biolink:NamedThing	hexose transmembrane transporter activity	Enables the transfer of a hexose sugar, a monosaccharide with 6 carbon atoms, from one side of a membrane to the other.		mondo.json		http://purl.obolibrary.org/obo/GO_0015149		
GO:0015144	biolink:NamedThing	carbohydrate transmembrane transporter activity	Enables the transfer of carbohydrate from one side of a membrane to the other.		mondo.json	carbohydrate transporter activity|sugar transporter	http://purl.obolibrary.org/obo/GO_0015144		
HP:0012219	biolink:PhenotypicFeature	Erythema nodosum	An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral.	UMLS:C0014743|MSH:D004893|SNOMEDCT_US:32861005	mondo.json		http://purl.obolibrary.org/obo/HP_0012219		
GO:0015145	biolink:NamedThing	monosaccharide transmembrane transporter activity	Enables the transfer of a monosaccharide from one side of a membrane to the other.		mondo.json		http://purl.obolibrary.org/obo/GO_0015145		
HP:0000240	biolink:PhenotypicFeature	Abnormality of skull size	Any abnormality of the size of the skull.	UMLS:C4025874	mondo.json	Abnormality of skull size|Abnormality of cranium size|Abnormality of head size	http://purl.obolibrary.org/obo/HP_0000240		
MONDO:0021196	biolink:Disease	obsolete disease by molecular activity disrupted			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021196		metaclass
MONDO:0021195	biolink:Disease	obsolete disease by cellular process disrupted			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021195		metaclass
MONDO:0021194	biolink:Disease	obsolete disease by subcellular system affected	OBSOLETE. A grouping of diseases based on molecular activity, cellular process or subcellular component.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0021194		metaclass
MONDO:0021193	biolink:Disease	neuroepithelial neoplasm	A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors.	MESH:D018302|NCIT:C3787|ONCOTREE:PRNET	mondo.json	tumor of the neuroepithelium|tumor of neuroepithelium|neuroepithelial tissue neoplasm|tumor of neuroepithelial tissue|neuroepithelial tumor|primary neuroepithelial tumor|neoplasm of the neuroepithelium|neoplasm of neuroepithelium|neuroepithelial neoplasms|neuroepithelial neoplasm|neoplasm of neuroepithelial tissue|neuroepithelial tumors|neuroepithelial tissue tumor	http://purl.obolibrary.org/obo/MONDO_0021193	http://identifiers.org/mesh/D018302|NCIT:C3787	
MONDO:0021192	biolink:Disease	odontogenic neoplasm	A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain.	NCIT:C3286|MESH:D009808|UMLS:C0028880|ICDO:9270/1	mondo.json	calcareous tooth neoplasm|tumor of calcareous tooth|calcareous tooth neoplasm (disease)|odontogenic neoplasm|neoplasm of calcareous tooth|calcareous tooth tumor|odontogenic tumor	http://purl.obolibrary.org/obo/MONDO_0021192	http://identifiers.org/mesh/D009808|NCIT:C3286|UMLS:C0028880	
MONDO:0021191	biolink:Disease	obsolete malignant ependymoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021191		
MONDO:0021190	biolink:Disease	DNA repair disease	A disease that has its basis in the disruption of DNA repair.	EFO:0008499|MESH:D049914|NCIT:C7757	mondo.json	DNA repair deficiency|syndromes, chromosome instability|syndrome, chromosome instability|DNA repair-deficiency|DNA Repairs, deficient|DNA repair-deficiency disorder|disorder of DNA repair|deficient DNA Repairs|chromosome instability syndromes|Repairs, deficient DNA|DNA repair-deficiencies|disorder, DNA repair-deficiency|DNA repair disorder|disorders, DNA repair-deficiency|deficiency of DNA repair|repair, deficient DNA|DNA repair, deficient|DNA repair deficiency disorders|deficient DNA repair|chromosome instability syndrome	http://purl.obolibrary.org/obo/MONDO_0021190	NCIT:C7757|http://identifiers.org/mesh/D049914	
HP:0012205	biolink:PhenotypicFeature	Globozoospermia	Any structural anomaly of the acrosome resulting in a round sperm head.	UMLS:C0403825|MSH:D000072660|SNOMEDCT_US:236818008	mondo.json		http://purl.obolibrary.org/obo/HP_0012205		
GO:0005794	biolink:NamedThing	Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.		mondo.json	Golgi complex|Golgi ribbon|Golgi	http://purl.obolibrary.org/obo/GO_0005794		
HP:0000219	biolink:PhenotypicFeature	Thin upper lip vermilion	Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).	UMLS:C1865017	mondo.json	Thin vermilion border of upper lip|Decreased volume of upper lip|Thin red part of the upper lip|Thin upper lips|Thin upper lip|Decreased height of upper lip vermilion|Decreased volume of upper lip vermilion	http://purl.obolibrary.org/obo/HP_0000219		hposlim_core
MONDO:0021199	biolink:Disease	obsolete disease by anatomical system	OBSOLETE. A disease that disrupts the functioning of an organ system.	ICD9:796.4|DOID:7|SCTID:362965005|UMLS:C1285159	mondo.json	disease of anatomical system|disease of anatomical entity|disorder of anatomical system|anatomical system disease	http://purl.obolibrary.org/obo/MONDO_0021199	DOID:7|http://identifiers.org/snomedct/362965005|UMLS:C1285159	metaclass
MONDO:0021198	biolink:Disease	obsolete rare genetic disease		Orphanet:98053|UMLS:CN206953	mondo.json		http://purl.obolibrary.org/obo/MONDO_0021198	Orphanet:98053|UMLS:CN206953	obsoletion_candidate
MONDO:0021197	biolink:Disease	obsolete disease by cellular component affected			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021197		metaclass
CHR:9606-chr14q32	biolink:NamedThing	14q32 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr14q32		
HP:0002870	biolink:PhenotypicFeature	Obstructive sleep apnea	A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow.	UMLS:C0520679|MSH:D020181|SNOMEDCT_US:78275009	mondo.json	Obstructive sleep apnoea	http://purl.obolibrary.org/obo/HP_0002870		
GO:0015119	biolink:NamedThing	hexose phosphate transmembrane transporter activity	Enables the transfer of hexose phosphate from one side of a membrane to the other. Hexose phosphates is any of a group of monophosphorylated aldoses with a chain of six carbon atoms in the molecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0015119		
MONDO:0021184	biolink:Disease	deltaretrovirus infections	Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED).	MESH:D006800	mondo.json	infection, Deltaretrovirus|BLV infection|HTLV BLV infections|HTLV-BLV infections|Deltaretrovirus infection|HTLV infections|HTLV infection|HTLV-BLV infection|BLV infections|infections, Deltaretrovirus	http://purl.obolibrary.org/obo/MONDO_0021184	http://identifiers.org/mesh/D006800	
MONDO:0021183	biolink:Disease	HTLV-2 infection		GARD:0009783|MESH:D015491|SCTID:425740005|UMLS:C0020102|EFO:1001349	mondo.json	Infections, HTLV II|Human T-lymphotropic Virus 2 Infections|HTLV-2 infection|Infections, HTLV-II|Human T lymphotropic Virus 2 Infections|Human T lymphotropic Virus 2 Infection|Human T-lymphotropic virus 2 infection|Infection, HTLV-II|INFECT HTLV II|Human T-lymphotropic Virus 2 Infection|HTLV-II infection|HTLV II INFECT|HTLV-II Infection|HTLV-II Infections	http://purl.obolibrary.org/obo/MONDO_0021183	http://identifiers.org/mesh/D015491|http://identifiers.org/snomedct/425740005|UMLS:C0020102	
MONDO:0021181	biolink:Disease	inherited blood coagulation disorder	Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation.	UMLS:C0852077|DOID:2214|UMLS:CN226819|MESH:D025861|Orphanet:183654	mondo.json	inherited coagulation disorders|hereditary coagulation disorders|coagulation disorders, inherited|rare genetic coagulation disorder|inherited blood coagulation disease|inherited blood coagulation disorders|hereditary blood coagulation disorders|coagulation disorder, inherited|coagulation disorder, hereditary|hereditary blood coagulation disease|coagulation disorders, hereditary|hereditary coagulation disorder|inherited coagulation disorder	http://purl.obolibrary.org/obo/MONDO_0021181	Orphanet:183654|UMLS:CN226819|http://identifiers.org/mesh/D025861|UMLS:C0852077	disease_grouping|ordo_group_of_disorders
MONDO:0021180	biolink:Disease	acquired xanthinuria	Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy.		mondo.json	acquired xanthinuria	http://purl.obolibrary.org/obo/MONDO_0021180		
MONDO:0021189	biolink:Disease	intestinal motility disease	A disease that has its basis in the disruption of intestinal motility.		mondo.json	disorder of intestinal motility	http://purl.obolibrary.org/obo/MONDO_0021189		
MONDO:0021188	biolink:Disease	obsolete hemangiopericytoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021188		
MONDO:0021187	biolink:Disease	hyperlipidemia		UMLS:CN236649|HP:0003077|UMLS:C0020473|SCTID:55822004|ICD10CM:E78.5|EFO:0003774|MESH:D006949|ICD9:272.4	mondo.json	hyperlipemia|hyperlipidemia|lipidemias|lipemia|lipemias|lipidemia|hyperlipidemia (disease)|hyperlipemias	http://purl.obolibrary.org/obo/MONDO_0021187	UMLS:C0020473|http://purl.bioontology.org/ontology/ICD10CM/E78.5|UMLS:CN236649|http://identifiers.org/snomedct/55822004|http://identifiers.org/mesh/D006949	
HP:0002883	biolink:PhenotypicFeature	Hyperventilation	Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.	MSH:D006985|SNOMEDCT_US:68978004|UMLS:C0020578	mondo.json	Rapid breathing	http://purl.obolibrary.org/obo/HP_0002883		
HP:0000223	biolink:PhenotypicFeature	Abnormality of taste sensation		UMLS:C4025879	mondo.json	Abnormality of taste sensation	http://purl.obolibrary.org/obo/HP_0000223		
HGNC:24797	biolink:NamedThing	FAM83H			mondo.json		http://identifiers.org/hgnc/24797		
ENVO:00000020	biolink:NamedThing	lake	A body of water or other liquid of considerable size contained in a depression on a landmass.		mondo.json	loch|lochan|llyn|lough|mortlake|tarn|broad|pasteuer lake|catch basin|open water|mere	http://purl.obolibrary.org/obo/ENVO_00000020		
GO:0005777	biolink:NamedThing	peroxisome	A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism.		mondo.json	peroxisomal|peroxisome vesicle	http://purl.obolibrary.org/obo/GO_0005777		
GO:0030730	biolink:NamedThing	sequestering of triglyceride	The process of binding or confining any triester of glycerol such that it is separated from other components of a biological system.		mondo.json	storage of triacylglycerol|triacylglycerol storage|retention of triacylglycerol|triglyceride sequestering|triglyceride retention|sequestration of triglyceride|triglyceride storage|sequestration of triacylglycerol|triacylglycerol sequestration|triacylglycerol sequestering|sequestering of triacylglycerol|retention of triglyceride|storage of triglyceride|triacylglycerol retention|triglyceride sequestration	http://purl.obolibrary.org/obo/GO_0030730		
GO:0030731	biolink:NamedThing	guanidinoacetate N-methyltransferase activity	Catalysis of the reaction: S-adenosyl-L-methionine + guanidinoacetate = S-adenosyl-L-homocysteine + creatine + H(+).		mondo.json	methionine-guanidinoacetic transmethylase activity|guanidinoacetate methyltransferase activity|GA methylpherase activity|S-adenosyl-L-methionine:N-guanidinoacetate methyltransferase activity|guanidinoacetate transmethylase activity|guanidoacetate methyltransferase activity	http://purl.obolibrary.org/obo/GO_0030731		
GO:0005775	biolink:NamedThing	vacuolar lumen	The volume enclosed within the vacuolar membrane.		mondo.json		http://purl.obolibrary.org/obo/GO_0005775		
MONDO:0060779	biolink:Disease	acquired Fanconi syndrome	Fanconi Syndrome caused by exposure to noxious agents.	SCTID:236467001|NCIT:C78296|UMLS:C0341702	mondo.json	acquired Fanconi syndrome	http://purl.obolibrary.org/obo/MONDO_0060779	NCIT:C78296|UMLS:C0341702|http://identifiers.org/snomedct/236467001	
GO:0005773	biolink:NamedThing	vacuole	A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol.		mondo.json	vacuolar carboxypeptidase Y	http://purl.obolibrary.org/obo/GO_0005773		
MONDO:0060778	biolink:Disease	adult Fanconi syndrome	Probably related to a recessive gene, this is Fanconi Syndrome, characterised by adult onset.	NCIT:C4377	mondo.json	adult Fanconi's syndrome|adult Fanconi syndrome	http://purl.obolibrary.org/obo/MONDO_0060778	NCIT:C4377	
MONDO:0060777	biolink:Disease	cervical fibroepithelial polyp	A usually solitary polypoid lesion that arises from the cervix. It usually affects women in their reproductive years. It is characterized by the presence of a connective tissue core and overlying epithelium.	UMLS:C1516413|NCIT:C40200	mondo.json	uterine cervix fibroepithelial polyp|Cervical fibroepithelial polyp	http://purl.obolibrary.org/obo/MONDO_0060777	UMLS:C1516413|NCIT:C40200	
MONDO:0060774	biolink:Disease	vaginal fibroepithelial polyp	A superficial polypoid lesion that arises from the vagina. It is characterized by the presence of a fibroblastic stroma which is often myxoid, covered by squamous epithelial cells.	NCIT:C4948|UMLS:C0750071	mondo.json	fibroepithelial polyp of the vagina|vaginal fibroepithelial stromal polyp|vaginal fibroepithelial polyp|fibroepithelial polyp of vagina	http://purl.obolibrary.org/obo/MONDO_0060774	UMLS:C0750071|NCIT:C4948	
HP:0000275	biolink:PhenotypicFeature	Narrow face	Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).	UMLS:C1837463|UMLS:C1849121	mondo.json	Transverse hypoplasia of face|Narrow face|Thin face|Horizontal deficiency of face|Transverse insufficiency of face|Decreased horizontal dimension of face|Narrow facies|Horizontal hypoplasia of face|Thin facies|Decreased breadth of face|Decreased transverse dimension of face|Transverse deficiency of face|Horizontal insufficiency of face|Decreased width of face	http://purl.obolibrary.org/obo/HP_0000275		hposlim_core
MONDO:0060782	biolink:Disease	premalignant hematological system disease	A hematologic disorder which does not display the morphologic and/or clinical characteristics of an overt malignancy. Representative examples include atypical lymphoproliferative disorders and myelodysplastic syndromes.	NCIT:C27274|UMLS:C1335471	mondo.json	premalignant hematologic condition	http://purl.obolibrary.org/obo/MONDO_0060782	NCIT:C27274|UMLS:C1335471	
MONDO:0060781	biolink:Disease	Preeyasombat-Varavithya syndrome		MESH:C535269|UMLS:C2930859	mondo.json	Fanconi syndrome caused by degraded tetracycline	http://purl.obolibrary.org/obo/MONDO_0060781	http://identifiers.org/mesh/C535269|UMLS:C2930859	
HP:0000274	biolink:PhenotypicFeature	Small face	A face that is short (HP:0011219) and narrow (HP:0000275).	UMLS:C1855538	mondo.json	Hypoplasia of face|Facial hypoplasia|Small facies|Short and narrow face|Small face|Microfacies|Microface	http://purl.obolibrary.org/obo/HP_0000274		
HP:0000277	biolink:PhenotypicFeature	Abnormal mandible morphology	Any abnormality of the mandible, the bone of the lower jaw.	UMLS:C4025870	mondo.json	Abnormality of the lower jaw bone|Anomaly of the mandible|Deformity of the lower jaw bone|Malformation of the lower jaw bone|Abnormality of the mandible|Deformity of the mandible|Malformation of the mandible	http://purl.obolibrary.org/obo/HP_0000277		hposlim_core
HP:0000278	biolink:PhenotypicFeature	Retrognathia	An abnormality in which the mandible is mislocalised posteriorly.	UMLS:C3494422|MSH:D063173	mondo.json	Weak chin|Retrognathia of lower jaw|Retrogenia|Receding mandible|Lower jaw retrognathia|Weak jaw|Receding chin|Receding lower jaw	http://purl.obolibrary.org/obo/HP_0000278		hposlim_core
UBERON:0007617	biolink:AnatomicalEntity	synovial cavity of joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007617		
UBERON:0007616	biolink:AnatomicalEntity	layer of synovial tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007616		
MONDO:0033169	biolink:Disease	curariform drugs toxicity		Orphanet:413693	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033169	Orphanet:413693	ordo_disorder
HP:0000271	biolink:PhenotypicFeature	Abnormality of the face	An abnormality of the face.	UMLS:C0266617|SNOMEDCT_US:118930001|UMLS:C4025871|SNOMEDCT_US:398302004|UMLS:C1290857|SNOMEDCT_US:32003007|SNOMEDCT_US:398206004	mondo.json	Abnormal face|Facial anomaly|Disorder of the face|Disorder of face|Abnormality of the face|Anomaly of face|Anomaly of the face|Abnormality of the physiognomy|Abnormality of the visage|Facial abnormality|Abnormality of the countenance	http://purl.obolibrary.org/obo/HP_0000271		hposlim_core
HP:0000272	biolink:PhenotypicFeature	Malar flattening	Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.	UMLS:C4280651|UMLS:C1858085	mondo.json	Zygomatic flattening|Underdevelopment of malar bone|Flat cheekbone|Hypotrophic malar bone|Malar hypoplasia|Depressed malar region|Decreased size of malar bone	http://purl.obolibrary.org/obo/HP_0000272		hposlim_core
PO:0000037	biolink:NamedThing	shoot axis apex	A shoot axis (PO:0025029) that is the most distal part of a shoot system (PO:0009006) and has as parts a shoot apical meristem (PO:0020148) and the youngest primordia (PO:0025127).	PO_GIT:234	mondo.json	&#225pice del epiblasto (epiblastema) (Spanish, exact)|シュート頂、茎頂 (Japanese, exact)	http://purl.obolibrary.org/obo/PO_0000037		reference
MONDO:0060768	biolink:Disease	gingival fibroepithelial polyp	A non-neoplastic nodular lesion that arises from the gingiva. It is composed of epithelial cells lining connective tissue stroma.	SCTID:235001002|UMLS:C0399441|NCIT:C4693	mondo.json	gum fibroepithelial polyp|fibroepithelial polyp of the gingiva|fibroepithelial polyp of gingiva|gingival fibroepithelial polyp|fibroepithelial polyp of the gum|fibroepithelial polyp of gum	http://purl.obolibrary.org/obo/MONDO_0060768	NCIT:C4693|http://identifiers.org/snomedct/235001002|UMLS:C0399441	
HGNC:22140	biolink:NamedThing	FAM20C			mondo.json		http://identifiers.org/hgnc/22140		
MONDO:0060766	biolink:Disease	anal polyp	A non-neoplastic or neoplastic polypoid lesion that arises from the anus. Representative examples include the fibroepithelial polyp and squamous papilloma.	SCTID:88580009|UMLS:C0267573|NCIT:C3957	mondo.json	anal polyp|polyp of anus|polyp of the anus	http://purl.obolibrary.org/obo/MONDO_0060766	UMLS:C0267573|NCIT:C3957|http://identifiers.org/snomedct/88580009	
MONDO:0060765	biolink:Disease	fibroepithelial polyp	A polypoid lesion composed of fibrous tissue and epithelium. Representative examples include skin tag, anal fibroepithelial polyp, and gingival fibroepithelial polyp.	NCIT:C3337	mondo.json	fibroepithelial polyp|fibropapilloma, benign	http://purl.obolibrary.org/obo/MONDO_0060765	NCIT:C3337	
MONDO:0060764	biolink:Disease	tetraamelia syndrome 1		OMIM:273395	mondo.json	tetraamelia syndrome 1|Tetra-amelia syndrome 1|tetraamelia syndrome, autosomal recessive|TETAMS1	http://purl.obolibrary.org/obo/MONDO_0060764	https://omim.org/entry/273395	
MONDO:0060763	biolink:Disease	intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	Any BAFopathy in which the cause of the disease is a mutation in the BCL11B gene.	OMIM:618092	mondo.json	INTELLECTUAL developmental disorder with speech delay, DYSMORPHIC facies, and T-cell abnormalities|IDDSFTA|intellectual developmental disorder with dysmorphic facies, speech delay, and t-cell abnormalities|BCL11B-related BAFopathy	http://purl.obolibrary.org/obo/MONDO_0060763	https://omim.org/entry/618092	
MONDO:0060761	biolink:Disease	neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum		OMIM:618090	mondo.json	neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum|NEDEHCC	http://purl.obolibrary.org/obo/MONDO_0060761	https://omim.org/entry/618090	
HP:0012252	biolink:PhenotypicFeature	Abnormal respiratory system morphology	A structural anomaly of the respiratory system.	Fyler:4235|UMLS:C4022992	mondo.json		http://purl.obolibrary.org/obo/HP_0012252		
GO:0015106	biolink:NamedThing	bicarbonate transmembrane transporter activity	Enables the transfer of bicarbonate from one side of a membrane to the other. Bicarbonate is the hydrogencarbonate ion, HCO3-.		mondo.json		http://purl.obolibrary.org/obo/GO_0015106		
HP:0000286	biolink:PhenotypicFeature	Epicanthus	A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.	UMLS:C0678230	mondo.json	Epicanthal folds|Epicanthic folds|Prominent eye folds|Epicanthal fold|Palpebronasal fold|Eye folds|Plica palpebronasalis	http://purl.obolibrary.org/obo/HP_0000286		hposlim_core
GO:0015108	biolink:NamedThing	chloride transmembrane transporter activity	Enables the transfer of chloride ions from one side of a membrane to the other.		mondo.json	chloride ABC transporter|chloride transporting ATPase activity|chloride ion transmembrane transporter activity|chloride-transporting ATPase activity|ATP-dependent chloride transmembrane transporter activity|ATPase-coupled chloride transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0015108		
MONDO:0033170	biolink:Disease	statin toxicity		Orphanet:413696	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033170	Orphanet:413696	ordo_disorder
GO:0015103	biolink:NamedThing	inorganic anion transmembrane transporter activity	Enables the transfer of inorganic anions from one side of a membrane to the other. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage.		mondo.json		http://purl.obolibrary.org/obo/GO_0015103		
UBERON:0007606	biolink:AnatomicalEntity	ciliated stratified columnar epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007606		
UBERON:0007602	biolink:AnatomicalEntity	stratified columnar epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007602		
UBERON:0007601	biolink:AnatomicalEntity	ciliated epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007601		
HP:0012243	biolink:PhenotypicFeature	Abnormal reproductive system morphology	A structural or developmental anomaly of any of the tissues involved in the genital system.	UMLS:C4021096	mondo.json	Abnormal genital system morphology	http://purl.obolibrary.org/obo/HP_0012243		
ENVO:00000002	biolink:NamedThing	anthropogenic geographic feature	An anthropogenic geographic feature is a geographic feature resulting from the influence of human beings on nature.		mondo.json	man-made feature|manmade feature	http://purl.obolibrary.org/obo/ENVO_00000002		
GO:0005759	biolink:NamedThing	mitochondrial matrix	The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation.		mondo.json	mitochondrial stroma|mitochondrial lumen	http://purl.obolibrary.org/obo/GO_0005759		
ENVO:00000000	biolink:NamedThing	geographic feature			mondo.json	macroscopic spatial feature	http://purl.obolibrary.org/obo/ENVO_00000000		
GO:0005753	biolink:NamedThing	mitochondrial proton-transporting ATP synthase complex	A proton-transporting ATP synthase complex found in the mitochondrial membrane.		mondo.json	mitochondrial respiratory chain complex V	http://purl.obolibrary.org/obo/GO_0005753		
GO:0005750	biolink:NamedThing	mitochondrial respiratory chain complex III	A protein complex located in the mitochondrial inner membrane that forms part of the mitochondrial respiratory chain. Contains about 10 polypeptide subunits including four redox centers: cytochrome b/b6, cytochrome c1 and an 2Fe-2S cluster. Catalyzes the oxidation of ubiquinol by oxidized cytochrome c1.		mondo.json	mitochondrial coenzyme Q-cytochrome c oxidoreductase complex|mitochondrial coenzyme Q-cytochrome c reductase complex|mitochondrial ubiquinol-cytochrome c oxidoreductase complex|mitochondrial electron transport complex III|mitochondrial complex III|mitochondrial cytochrome bc1 complex|mitochondrial cytochrome bc(1) complex|mitochondrial ubiquinol-cytochrome-c reductase complex	http://purl.obolibrary.org/obo/GO_0005750		
HP:0000252	biolink:PhenotypicFeature	Microcephaly	Head circumference below 2 standard deviations below the mean for age and gender.	SNOMEDCT_US:271611007|Fyler:4310|UMLS:C4551563	mondo.json	Decreased size of cranium|Abnormally small cranium|Reduced head circumference|small calvarium|Small head|small cranium|Abnormally small head|Decreased size of head|Small skull|Abnormally small skull|Decreased size of skull|Decreased circumference of cranium|Small head circumference	http://purl.obolibrary.org/obo/HP_0000252		hposlim_core
HGNC:12796	biolink:NamedThing	WT1			mondo.json		http://identifiers.org/hgnc/12796		
MONDO:0033181	biolink:Disease	phenytoin or carbamazepine toxicity		Orphanet:414750	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033181	Orphanet:414750	ordo_disorder
HP:0000256	biolink:PhenotypicFeature	Macrocephaly	Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.	UMLS:C4280664|UMLS:C4280663|Fyler:4335|UMLS:C4083076|UMLS:C4255213	mondo.json	Big head|Increased size of skull|Large head|Large head circumference|Megacephaly|Big skull|Increased size of cranium|Large skull|Large calvaria|Increased size of head|Big cranium|Macrocrania|Large cranium|Big calvaria	http://purl.obolibrary.org/obo/HP_0000256		hposlim_core
HGNC:12799	biolink:NamedThing	WWOX			mondo.json		http://identifiers.org/hgnc/12799		
NCIT:C37123	biolink:NamedThing	Neoplastic Spindle-Shaped to Round Cell			mondo.json		http://purl.obolibrary.org/obo/NCIT_C37123		
MONDO:0033187	biolink:Disease	combined oxidative phosphorylation defect type 29		Orphanet:478029	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033187	Orphanet:478029	ordo_disease
HGNC:12791	biolink:NamedThing	WRN			mondo.json		http://identifiers.org/hgnc/12791		
ENVO:00000012	biolink:NamedThing	hydrographic feature	A geographical feature associated with water.		mondo.json	fluvial feature	http://purl.obolibrary.org/obo/ENVO_00000012		
GO:0003105	biolink:NamedThing	negative regulation of glomerular filtration	Any process that stops, prevents, or reduces the frequency, rate or extent of glomerular filtration. Glomerular filtration is the processs whereby blood is filtered by the glomerulus into the renal tubule.		mondo.json		http://purl.obolibrary.org/obo/GO_0003105		
HP:0012234	biolink:PhenotypicFeature	Agranulocytosis	Marked decrease in the number of granulocytes.	UMLS:C0702094	mondo.json		http://purl.obolibrary.org/obo/HP_0012234		
GO:0005766	biolink:NamedThing	primary lysosome	A lysosome before it has fused with a vesicle or vacuole.		mondo.json		http://purl.obolibrary.org/obo/GO_0005766		
NCIT:C37109	biolink:NamedThing	Malignant Epithelial Spindle Cell			mondo.json		http://purl.obolibrary.org/obo/NCIT_C37109		
GO:0003104	biolink:NamedThing	positive regulation of glomerular filtration	Any process that activates or increases the frequency, rate or extent of glomerular filtration. Glomerular filtration is the processs whereby blood is filtered by the glomerulus into the renal tubule.		mondo.json		http://purl.obolibrary.org/obo/GO_0003104		
GO:0005764	biolink:NamedThing	lysosome	A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.		mondo.json		http://purl.obolibrary.org/obo/GO_0005764		
PO:0000018	biolink:NamedThing	ovule primordium	A floral structure primordium (PO:0025477) that is committed to the development of an ovule (PO:0020003).	PO_GIT:465	mondo.json	胚珠原基（可視的） (Japanese, exact)|portion of ovule primordium tissue (exact)|primordio de &#243vulo (Spanish, exact)	http://purl.obolibrary.org/obo/PO_0000018		
PO:0000019	biolink:NamedThing	gynoecium primordium	A floral structure primordium (PO:0025477) that is committed to the development of a gynoecium (PO:0009062).	PO_GIT:465	mondo.json	雌蕊原基(可視的）   (Japanese, exact)|portion of gynoecium primordium tissue (exact)|pistil primordium (exact)|primordio de gineceo (Spanish, exact)	http://purl.obolibrary.org/obo/PO_0000019		
GO:0005761	biolink:NamedThing	mitochondrial ribosome	A ribosome found in the mitochondrion of a eukaryotic cell; contains a characteristic set of proteins distinct from those of cytosolic ribosomes.		mondo.json	55S ribosome, mitochondrial	http://purl.obolibrary.org/obo/GO_0005761		
HGNC:24783	biolink:NamedThing	LRIT3			mondo.json		http://identifiers.org/hgnc/24783		
CHEBI:42485	biolink:ChemicalSubstance	formyl group			mondo.json	aldehyde group|carbaldehyde|-CH(O)|-CHO|formyl|H-CO-|FORMYL GROUP|methanoyl|Fo	http://purl.obolibrary.org/obo/CHEBI_42485		
GO:0030705	biolink:NamedThing	cytoskeleton-dependent intracellular transport	The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0030705		
MONDO:0060783	biolink:Disease	classic congenital adrenal hyperplasia	A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement.	UMLS:C4329672|NCIT:C131423	mondo.json	classic CAH|classic congenital adrenal hyperplasia	http://purl.obolibrary.org/obo/MONDO_0060783	UMLS:C4329672|NCIT:C131423	
MONDO:0033196	biolink:Disease	obsolete skin/hair/eye pigmentation, variation in		OMIMPS:227220	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033196	https://omim.org/phenotypicSeries/PS227220	
ENVO:00000019	biolink:NamedThing	saline lake	A lake whose water contains a considerable concentration of dissolved salts.		mondo.json	salina|salt lake|soda lake	http://purl.obolibrary.org/obo/ENVO_00000019		
ENVO:00000016	biolink:NamedThing	sea	A large expanse of saline water usually connected with an ocean.		mondo.json	channel|open water|closed sea|Sea|sea|open sound|open sea|marginal sea	http://purl.obolibrary.org/obo/ENVO_00000016		
ENVO:00000017	biolink:NamedThing	saline hydrographic feature	A geographical feature associated with water with a halinity above 30 ppt (roughly 35 g/L).		mondo.json		http://purl.obolibrary.org/obo/ENVO_00000017		
MONDO:0033198	biolink:Disease	hearing loss, autosomal recessive 106		OMIM:617637|DOID:0080261	mondo.json	autosomal recessive nonsyndromic deafness 106|deafness autosomal recessive 106|deafness, autosomal recessive 106|DFNB106	http://purl.obolibrary.org/obo/MONDO_0033198	DOID:0080261|https://omim.org/entry/617637	
MONDO:0033199	biolink:Disease	hearing loss, autosomal recessive 107		OMIM:617639|DOID:0080262	mondo.json	deafness, autosomal recessive 107|autosomal recessive nonsyndromic deafness 107|DFNB107	http://purl.obolibrary.org/obo/MONDO_0033199	DOID:0080262|https://omim.org/entry/617639	
ENVO:00000015	biolink:NamedThing	ocean	A marine water body which is constitutes the majority of an astronomical body's hydrosphere.		mondo.json	ocean region|ocean|Ocean	http://purl.obolibrary.org/obo/ENVO_00000015		
MONDO:0023679	biolink:Disease	hematohidrosis	Hematohidrosis is a rare condition characterized by blood oozing from intact skin and mucosa. Signs and symptoms include sweating blood, crying bloody tears, bleeding from the nose, bleeding from the ears, or oozing bloodfrom other skin surfaces. The episodes are usually self-limiting.	GARD:0013131|UMLS:C0473554|SCTID:238757003|ICD9:705.89	mondo.json	Hematohidrosis|Hematidrosis	http://purl.obolibrary.org/obo/MONDO_0023679	UMLS:C0473554|http://identifiers.org/snomedct/238757003	gard_rare
MONDO:0021017	biolink:Disease	synaptopathy	A disease caused by dysfunction of synapses.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0021017		
MONDO:0008039	biolink:Disease	tropical spastic paraparesis	Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection.	OMIM:159580|SCTID:714279000|Orphanet:289326|MedDRA:10044696|EFO:0007527|DOID:321|UMLS:C0030481|GARD:0008208|ICD9:323.01|MESH:D015493	mondo.json	Human T-cell leukemia virus type 1 associated myelopathy/tropical spastic paraparesis|myelopathy, HTLV-1-associated|TSP|ham/TSP|tropical spastic paraparesis (formerly)|HTLV-associated myelopathy|Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis|familial spastic paraparesis, HTLV-1-associated|ham|HTLV-1 associated myelopathy/tropical spastic paraparesis|tropical spastic paraplegia|HTLV-1-associated myelopathy/tropical spastic paraparesis|tropical spastic paralysis|Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis	http://purl.obolibrary.org/obo/MONDO_0008039	http://identifiers.org/mesh/D015493|DOID:321|UMLS:C0030481|https://omim.org/entry/159580|http://identifiers.org/snomedct/714279000|Orphanet:289326	ordo_disease
MONDO:0021016	biolink:Disease	obsolete channelopathy	OBSOLETE. A disease caused by disturbed function of ion channel subunits or the proteins that regulate them.	MESH:D053447|UMLS:C1720983	mondo.json	disorder of ion channel activity|ion channel activity disease	http://purl.obolibrary.org/obo/MONDO_0021016	http://identifiers.org/mesh/D053447|UMLS:C1720983	
MONDO:0008037	biolink:Disease	myelinated optic nerve fibers		OMIM:159500	mondo.json	myelinated optic nerve fibers	http://purl.obolibrary.org/obo/MONDO_0008037	https://omim.org/entry/159500	
MONDO:0060611	biolink:Disease	combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia		OMIM:617780|UMLS:C4540434	mondo.json	combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia|methylenetetrahydrofolate dehydrogenase 1 deficiency|CIMAH	http://purl.obolibrary.org/obo/MONDO_0060611	https://omim.org/entry/617780|UMLS:C4540434	
MONDO:0008038	biolink:Disease	ataxia-pancytopenia syndrome	Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.	GARD:0003865|MESH:C563233|ICD10CM:D61.0|OMIM:159550|Orphanet:2585|UMLS:C1327919|SCTID:768556005	mondo.json	ataxia-pancytopenia syndrome|ATXPC|myelocerebellar disorder	http://purl.obolibrary.org/obo/MONDO_0008038	http://identifiers.org/snomedct/768556005|Orphanet:2585|https://omim.org/entry/159550|UMLS:C1327919|http://identifiers.org/mesh/C563233	ordo_malformation_syndrome
MONDO:0021013	biolink:Disease	trichothiodystrophy 4, nonphotosensitive	A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein.	ICD9:783.43|NCIT:C146899|Orphanet:75790|SCTID:403796005|OMIM:234050|DOID:0050528|ICD9:704.8	mondo.json	MPLKIP nonphotosensitive trichothiodystrophy|nonphotosensitive trichothiodystrophy caused by mutation in MPLKIP|TTD4|trichothiodystrophy-neurocutaneous syndrome|Amish brittle hair brain syndrome|Pollitt syndrome|BIDS syndrome|nonphotosensitive trichothiodystrophy|trichothiodystrophy, nonphotosensitive 1|hair-brain syndrome|trichothiodystrophy 4, nonphotosensitive	http://purl.obolibrary.org/obo/MONDO_0021013	https://omim.org/entry/234050|http://identifiers.org/snomedct/403796005|DOID:0050528|NCIT:C146899	
MONDO:0008035	biolink:Disease	muscular hypoplasia, congenital universal, of Krabbe		MESH:C563553|OMIM:159100|UMLS:C1834651	mondo.json	muscular hypoplasia, congenital universal, of Krabbe	http://purl.obolibrary.org/obo/MONDO_0008035	https://omim.org/entry/159100|http://identifiers.org/mesh/C563553|UMLS:C1834651	
MONDO:0008036	biolink:Disease	myasthenia, limb-girdle, autoimmune		OMIM:159400|MESH:C563552|UMLS:C1834635|GARD:0008575	mondo.json	myasthenia gravis, limb-girdle|myasthenia, limb-girdle, autoimmune	http://purl.obolibrary.org/obo/MONDO_0008036	https://omim.org/entry/159400|http://identifiers.org/mesh/C563552|UMLS:C1834635	
MONDO:0021012	biolink:Disease	susceptibility to visceral leishmaniasis, 1		OMIM:608207	mondo.json	kala-Azar, susceptibility to, 1|KAZA1|leishmaniasis, visceral, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0021012	https://omim.org/entry/608207	predisposition
HGNC:24872	biolink:NamedThing	GNAS-AS1			mondo.json		http://identifiers.org/hgnc/24872		
MONDO:0021011	biolink:Disease	hereditary progressive chorea without dementia		OMIM:118700	mondo.json	hereditary progressive chorea without dementia|chorea, benign hereditary|BCH|chorea, hereditary benign|BHC	http://purl.obolibrary.org/obo/MONDO_0021011	https://omim.org/entry/118700	
MONDO:0008033	biolink:Disease	obsolete autosomal dominant limb-girdle muscular dystrophy type 1B	OBSOLETE. Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0008033		
MONDO:0023670	biolink:Disease	Bardet-Biedl syndrome 20		OMIM:619471	mondo.json	BBS20	http://purl.obolibrary.org/obo/MONDO_0023670	https://omim.org/entry/619471	
MONDO:0021010	biolink:Disease	skin lymphangiosarcoma	A malignant vascular neoplasm of the skin arising from the lymphatic vessels.	NCIT:C4490|ICD9:171.2|UMLS:C0346082|SCTID:62497000	mondo.json	skin lymphangiosarcoma|lymphangiosarcoma of skin|lymphangiosarcoma of the skin|lymphangiosarcoma of Stewart and Treves	http://purl.obolibrary.org/obo/MONDO_0021010	http://identifiers.org/snomedct/62497000|UMLS:C0346082|NCIT:C4490	
MONDO:0008034	biolink:Disease	muscular dystrophy, pseudohypertrophic, with Internalized capillaries		MESH:C563554|UMLS:C1834652|OMIM:159050	mondo.json	muscular dystrophy, pseudohypertrophic, with Internalized capillaries	http://purl.obolibrary.org/obo/MONDO_0008034	https://omim.org/entry/159050|http://identifiers.org/mesh/C563554|UMLS:C1834652	
MONDO:0023671	biolink:Disease	oculopharyngodistal myopathy 3		OMIM:619473	mondo.json	OPDM3	http://purl.obolibrary.org/obo/MONDO_0023671	https://omim.org/entry/619473	
MONDO:0008031	biolink:Disease	facioscapulohumeral muscular dystrophy 2	Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene.	DOID:0111193|UMLS:C1834671|OMIM:158901|MESH:C563557|NCIT:C172705	mondo.json	facioscapulohumeral muscular dystrophy type 2|SMCHD1 facioscapulohumeral muscular dystrophy|facioscapulohumeral muscular dystrophy 2|facioscapulohumeral muscular dystrophy 2, digenic|muscular dystrophy, facioscapulohumeral, type 2|FSHD2|Fshd2, digenic|muscular dystrophy, facioscapulohumeral, type 1B|fascioscapulohumeral muscular dystrophy 2, digenic, digenic dominant|facioscapulohumeral muscular dystrophy caused by mutation in SMCHD1	http://purl.obolibrary.org/obo/MONDO_0008031	DOID:0111193|https://omim.org/entry/158901|http://identifiers.org/mesh/C563557|NCIT:C172705|UMLS:C1834671	
MONDO:0011694	biolink:Disease	spinocerebellar ataxia type 15/16	Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment.	UMLS:C1847725|Orphanet:98770|UMLS:C4274322|SCTID:716724006|UMLS:CN229296|DOID:0050966|NCIT:C150250|DOID:0050965|Orphanet:98769|GARD:0010477|MESH:C564685|OMIM:606658	mondo.json	SCAR16|spinocerebellar ataxia 15|SCA15/16|spinocerebellar ataxia type 15|SCA16 (formerly)|spinocerebellar ataxia 16, formerly|spinocerebellar ataxia 16|spinocerebellar ataxia 16 (formerly)|spinocerebellar ataxia type 15/16|spinocerebellar ataxia type 16|SCA15	http://purl.obolibrary.org/obo/MONDO_0011694	UMLS:CN229296|UMLS:C1847725|UMLS:C4274322|https://omim.org/entry/606658|NCIT:C150250|Orphanet:98769|Orphanet:98770|DOID:0050965|http://identifiers.org/mesh/C564685|http://identifiers.org/snomedct/716724006	ordo_disease
MONDO:0035661	biolink:Disease	TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome	A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus.	Orphanet:592570	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035661	Orphanet:592570	ordo_disorder
MONDO:0008032	biolink:Disease	obsolete autosomal dominant limb-girdle muscular dystrophy type 1A			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008032		
MONDO:0011693	biolink:Disease	glaucoma, normal tension, susceptibility to		OMIM:606657	mondo.json	NTG|glaucoma, normal pressure, susceptibility to|glaucoma, normal tension, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0011693	https://omim.org/entry/606657	predisposition
MONDO:0035660	biolink:Disease	GNAO1-related developmental delay-seizures-movement disorder spectrum		Orphanet:592564|ICD10CM:F84.8	mondo.json	GNAO1-related spectrum	http://purl.obolibrary.org/obo/MONDO_0035660	Orphanet:592564	ordo_disorder
MONDO:0011696	biolink:Disease	melanoma, uveal, susceptibility to, 2		OMIM:606661	mondo.json	UVM2|melanoma, uveal, susceptibility to, type 2|melanoma, uveal, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0011696	https://omim.org/entry/606661	predisposition
MONDO:0011695	biolink:Disease	melanoma, uveal, susceptibility to, 1		OMIM:606660	mondo.json	melanoma, uveal, susceptibility to, type 1|UVM1|melanoma, uveal, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0011695	https://omim.org/entry/606660	predisposition
MONDO:0008030	biolink:Disease	facioscapulohumeral muscular dystrophy 1	Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the FRG1 gene.	DOID:0111192|GARD:0009941|OMIM:158900|MESH:C536391	mondo.json	Landouzy-Dejerine muscular dystrophy facioscapulohumeral muscular dystrophy, infantile, included|facioscapulohumeral muscular dystrophy type 1|muscular dystrophy, facioscapulohumeral, type 1A|FSHMD1A|FSHD|facioscapulohumeral muscular dystrophy caused by mutation in FRG1|facioscapulohumeral muscular dystrophy 1A|facioscapulohumeral muscular dystrophy|muscular dystrophy, facioscapulohumeral, type 1|muscular dystrophy, facioscapulohumeral|facioscapulohumeral muscular dystrophy, infantile|Landouzy-Dejerine muscular dystrophy|FRG1 facioscapulohumeral muscular dystrophy|FSHD1|facioscapulohumeral muscular dystrophy 1|FSHD1A|facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles, included|FMD|facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles	http://purl.obolibrary.org/obo/MONDO_0008030	DOID:0111192|http://identifiers.org/mesh/C536391|https://omim.org/entry/158900	gard_rare
MONDO:0011698	biolink:Disease	glycine N-methyltransferase deficiency	Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However, because elevated levels of methionine in the blood itself is a risk factor for development of neurological signs and symptoms, people with GNMT deficiency can have neurological problems when methionine levelsare greater than 800μmol/L. GNMT deficiency is caused by mutations in the GNMT gene. Inheritance is autosomal recessive. Treatment is not needed in most cases.	UMLS:C1847720|DOID:0111037|OMIM:606664|SCTID:763720007|GARD:0010764|Orphanet:289891	mondo.json	hypermethioninemia due to GNMT deficiency|GNMT deficiency|glycine N-methyltransferase deficiency|Glycine N-methyltransferase deficiency|hypermethioninemia due to glycine N-methyltransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0011698	Orphanet:289891|UMLS:C1847720|https://omim.org/entry/606664|http://identifiers.org/snomedct/763720007|DOID:0111037	ordo_disease|gard_rare
MONDO:0011697	biolink:Disease	Waardenburg syndrome type 2C	A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in variation in the chromosome region 8p23.	DOID:0110951|OMIM:606662|MESH:C564684|UMLS:C1847722	mondo.json	WS2C|Waardenburg syndrome type IIC|Waardenburg syndrome, type 2C	http://purl.obolibrary.org/obo/MONDO_0011697	http://identifiers.org/mesh/C564684|DOID:0110951|UMLS:C1847722|https://omim.org/entry/606662	
MONDO:0021009	biolink:Disease	salivary gland mucoepidermoid carcinoma	A carcinoma that arises from the salivary glands. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome.	SCTID:423708008|UMLS:C1335903|NCIT:C5908	mondo.json	salivary gland mucoepidermoid carcinoma|saliva-secreting gland mucoepidermoid carcinoma|mucoepidermoid carcinoma of salivary gland|mucoepidermoid carcinoma of the salivary gland	http://purl.obolibrary.org/obo/MONDO_0021009	http://identifiers.org/snomedct/423708008|NCIT:C5908|UMLS:C1335903	
MONDO:0021008	biolink:Disease	secondary antiphospholipid syndrome	An antiphospholipid syndrome that occurs alongside another autoimmune disorder.	ICD9:795.79|SCTID:239895006|UMLS:C0409983	mondo.json		http://purl.obolibrary.org/obo/MONDO_0021008	http://identifiers.org/snomedct/239895006|UMLS:C0409983	
MONDO:0011699	biolink:Disease	inflammatory bowel disease 8	An inflammatory bowel disease that has material basis in variation in the chromosome region 16p.	MESH:C564682|OMIM:606668|DOID:0110904|UMLS:C1847719	mondo.json	inflammatory bowel disease 8|IBD8|inflammatory bowel disease type 8	http://purl.obolibrary.org/obo/MONDO_0011699	http://identifiers.org/mesh/C564682|DOID:0110904|UMLS:C1847719|https://omim.org/entry/606668	
MONDO:0021007	biolink:Disease	obsolete stage of disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021007		
MONDO:0033006	biolink:Disease	Galloway-Mowat syndrome 2, X-linked		OMIM:301006|UMLS:CN570502|DOID:0080244	mondo.json	GAMOS2|Galloway-Mowat syndrome 2, X-linked, X-linked recessive|Galloway-Mowat syndrome 2, X-linked|Galloway-Mowat syndrome 2	http://purl.obolibrary.org/obo/MONDO_0033006	https://omim.org/entry/301006|UMLS:CN570502|DOID:0080244	
MONDO:0035669	biolink:Disease	acute disseminated encephalomyelitis with anti-MOG antibodies		Orphanet:592894|ICD10CM:G04.0	mondo.json	ADEM with anti-MOG antibodies|Acute disseminated encephalomyelitis with anti-myelin oligodendrocyte glycoprotein antibodies	http://purl.obolibrary.org/obo/MONDO_0035669	Orphanet:592894	ordo_subtype_of_a_disorder
MONDO:0033007	biolink:Disease	Galloway-Mowat syndrome 3		UMLS:CN570505|OMIM:617729|DOID:0080245	mondo.json	GAMOS3|Galloway-Mowat syndrome 3	http://purl.obolibrary.org/obo/MONDO_0033007	https://omim.org/entry/617729|UMLS:CN570505|DOID:0080245	
MONDO:0035668	biolink:Disease	isolated optic neuritis with anti-MOG antibodies		Orphanet:592888	mondo.json	Isolated optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies	http://purl.obolibrary.org/obo/MONDO_0035668	Orphanet:592888	ordo_subtype_of_a_disorder
MONDO:0033004	biolink:Disease	polycystic kidney disease 4	A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene.	UMLS:C0085548|Orphanet:731|OMIM:263200|UMLS:C0009714|DOID:0080212	mondo.json	PKD3, formerly|PKD3|polycystic kidney disease, infantile, type 1|polycystic kidney disease 4 with or without polycystic liver disease|PKD4|hepatic fibrosis, congenital|polycystic kidney disease 4|polycystic kidney and hepatic disease 1|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|polycystic kidney disease 4, with or without hepatic disease	http://purl.obolibrary.org/obo/MONDO_0033004	https://omim.org/entry/263200|DOID:0080212	
MONDO:0035667	biolink:Disease	isolated optic neuritis without anti-MOG antibodies		Orphanet:592885	mondo.json	Isolated optic neuritis without anti-myelin oligodendrocyte glycoprotein antibodies	http://purl.obolibrary.org/obo/MONDO_0035667	Orphanet:592885	ordo_subtype_of_a_disorder
MONDO:0033005	biolink:Disease	Galloway-Mowat syndrome 1		DOID:0060364|UMLS:CN031715|OMIM:251300	mondo.json	cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities|GAMOS1|nephrosis-neuronal dysmigration syndrome|microcephaly, hiatal hernia, and nephrotic syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|Galloway syndrome|spinocerebellar ataxia, autosomal recessive 5|nephrosis-microcephaly syndrome|Galloway-Mowat syndrome 1|cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities	http://purl.obolibrary.org/obo/MONDO_0033005	https://omim.org/entry/251300|DOID:0060364|UMLS:CN031715	
MONDO:0035666	biolink:Disease	acute transverse myelitis with anti-MOG antibodies		ICD10CM:G37.3|Orphanet:592873	mondo.json	Acute transverse myelitis with anti-myelin oligodendrocyte glycoprotein antibodies	http://purl.obolibrary.org/obo/MONDO_0035666	Orphanet:592873	ordo_subtype_of_a_disorder
MONDO:0035665	biolink:Disease	neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies		Orphanet:592869|ICD10CM:G36.0	mondo.json	NMOSD without anti-MOG antibodies and without anti-AQP4 antibodies|Neuromyelitis optica spectrum disorder without anti-Myelin oligodendrocyte glycoprotein and without anti-Aquaporin-4 antibodies	http://purl.obolibrary.org/obo/MONDO_0035665	Orphanet:592869	ordo_subtype_of_a_disorder
MONDO:0011690	biolink:Disease	Camurati-Engelmann disease, type 2	Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder.	MESH:C537978|GARD:0008748|UMLS:C2931683|OMIM:606631	mondo.json	Camurati Engelmann disease, type 2|progressive diaphyseal dysplasia with striations of the bones|Camurati-Engelmann disease, type 2|CAEND2	http://purl.obolibrary.org/obo/MONDO_0011690	UMLS:C2931683|https://omim.org/entry/606631|http://identifiers.org/mesh/C537978	speculative|n_of_one
MONDO:0035664	biolink:Disease	neuromyelitis optica spectrum disorder with anti-MOG antibodies		ICD10CM:G36.0|Orphanet:592856	mondo.json	Neuromyelitis optica spectrum disorder with anti-myelin oligodendrocyte glycoprotein antibodies|NMOSD with anti-MOG antibodies	http://purl.obolibrary.org/obo/MONDO_0035664	Orphanet:592856	ordo_subtype_of_a_disorder
MONDO:0035663	biolink:Disease	neuromyelitis optica spectrum disorder with anti-AQP4 antibodies		Orphanet:592850|ICD10CM:G36.0	mondo.json	NMOSD with anti-AQP4 antibodies|Neuromyelitis optica spectrum disorder with anti-aquaporin 4 antibodies	http://purl.obolibrary.org/obo/MONDO_0035663	Orphanet:592850	ordo_subtype_of_a_disorder
MONDO:0011692	biolink:Disease	obsolete basal ganglia calcification, idiopathic, 2			mondo.json		http://purl.obolibrary.org/obo/MONDO_0011692		
MONDO:0011691	biolink:Disease	amyotrophic lateral sclerosis type 3		DOID:0060195|OMIM:606640|GARD:0010501|MESH:C564688	mondo.json	ALS3|amyotrophic lateral sclerosis 3	http://purl.obolibrary.org/obo/MONDO_0011691	https://omim.org/entry/606640|DOID:0060195|http://identifiers.org/mesh/C564688	gard_rare
MONDO:0023662	biolink:Disease	lymphatic malformation 10		OMIM:619369	mondo.json	LMPHM10	http://purl.obolibrary.org/obo/MONDO_0023662	https://omim.org/entry/619369	
MONDO:0023663	biolink:Disease	obsolete macrocephaly mesodermal hamartoma spectrum		UMLS:C1867610|GARD:0000170|MESH:C537716	mondo.json	Elattoproteus syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly|partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly|hemihypertrophy and macrocephaly	http://purl.obolibrary.org/obo/MONDO_0023663	UMLS:C1867610|http://identifiers.org/mesh/C537716	gard_rare
MONDO:0023664	biolink:Disease	spermatogenic failure 54		OMIM:619379	mondo.json	SPGF54	http://purl.obolibrary.org/obo/MONDO_0023664	https://omim.org/entry/619379	
MONDO:0033008	biolink:Disease	Galloway-Mowat syndrome 4		UMLS:CN570506|OMIM:617730|DOID:0080246	mondo.json	Galloway-Mowat syndrome 4|GAMOS4	http://purl.obolibrary.org/obo/MONDO_0033008	https://omim.org/entry/617730|UMLS:CN570506|DOID:0080246	
MONDO:0033009	biolink:Disease	Galloway-Mowat syndrome 5		UMLS:CN570507|OMIM:617731|DOID:0080247	mondo.json	GAMOS5|Galloway-Mowat syndrome 5	http://purl.obolibrary.org/obo/MONDO_0033009	https://omim.org/entry/617731|UMLS:CN570507|DOID:0080247	
MONDO:0011679	biolink:Disease	craniosynostosis syndrome, autosomal recessive	Autosomal recessive form of craniosynostosis.	UMLS:C1847865|MESH:C564700|OMIM:606529	mondo.json	craniosynostosis syndrome, autosomal recessive|craniosynostosis, autosomal recessive|autosomal recessive craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0011679	http://identifiers.org/mesh/C564700|UMLS:C1847865|https://omim.org/entry/606529	
MONDO:0021005	biolink:Disease	faciodigitogenital syndrome	A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome.	MedDRA:10067148	mondo.json	faciogenital dysplasia|Aarskog syndrome|Aarskog-Scott syndrome	http://purl.obolibrary.org/obo/MONDO_0021005		
MONDO:0008048	biolink:Disease	autosomal dominant centronuclear myopathy	Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.	OMIM:160150|Orphanet:169189|SCTID:716696006|DOID:0111217|GARD:0012719|UMLS:C1834558|NCIT:C126689	mondo.json	DNM2-related centronuclear myopathy|centronuclear myopathy, autosomal dominant|autosomal dominant centronuclear myopathy|myopathy, centronuclear, 1|CNM1|AD-CNM|myopathy, centronuclear, autosomal dominant|myopathy, centronuclear, type 1|centronuclear myopathy 1|myotubular myopathy, autosomal dominant|centronuclear myopathy, autosomal, modifier of	http://purl.obolibrary.org/obo/MONDO_0008048	DOID:0111217|https://omim.org/entry/160150|Orphanet:169189|NCIT:C126689|UMLS:C1834558|http://identifiers.org/snomedct/716696006	prototype_pattern|ordo_disease|gard_rare
MONDO:0021004	biolink:Disease	brachydactyly	A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms.	HP:0001156|DOID:0050581|MESH:D059327	mondo.json	brachydactyly (disease)|brachydactyly	http://purl.obolibrary.org/obo/MONDO_0021004	DOID:0050581|http://identifiers.org/mesh/D059327	
MONDO:0021003	biolink:Disease	polydactyly	A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms.	OMIM:603596|HP:0010442|NCIT:C87110|MESH:D017689|ICD9:755.0|SCTID:367506006|ICD9:755.00|MedDRA:10036063|DOID:1148	mondo.json	polydactyly|polydactylism|postaxial polydactyly|hyperdactyly|polydactyly (disease)|supernumerary digit	http://purl.obolibrary.org/obo/MONDO_0021003	NCIT:C87110|https://omim.org/entry/603596|DOID:1148|http://identifiers.org/mesh/D017689|http://identifiers.org/snomedct/367506006	
MONDO:0008049	biolink:Disease	myopathy, distal, infantile-onset		UMLS:C4011725|UMLS:C1834556|DOID:0070196|OMIM:160300	mondo.json	myopathy, distal, infantile-onset	http://purl.obolibrary.org/obo/MONDO_0008049	https://omim.org/entry/160300|DOID:0070196|UMLS:C4011725|UMLS:C1834556	
MONDO:0021002	biolink:Disease	syndactyly	A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms.	HP:0001159|ICD9:755.1|MedDRA:10042778|MESH:D013576|DOID:11193|UMLS:C0039075	mondo.json	syndactyly (disease)	http://purl.obolibrary.org/obo/MONDO_0021002	DOID:11193|UMLS:C0039075|http://identifiers.org/mesh/D013576	
MONDO:0008046	biolink:Disease	autosomal dominant myoglobinuria	Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.	UMLS:C1834567|SCTID:725903003|OMIM:160010|MESH:C563546|Orphanet:99846	mondo.json	myoglobinuria, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008046	Orphanet:99846|https://omim.org/entry/160010|http://identifiers.org/mesh/C563546|UMLS:C1834567|http://identifiers.org/snomedct/725903003	ordo_disease
MONDO:0021001	biolink:Disease	hemochromatosis type 1	Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease	NCIT:C84764|EFO:0006513|DOID:0111029|SCTID:35400008|Orphanet:139498|GARD:0010417|ICD9:275.01|OMIM:235200|Orphanet:465508|UMLS:CN242134	mondo.json	C282Y/C282Y hemochromatosis|HFE1|hemochromatosis type 1|hemochromatosis|symptomatic form of classic hemochromatosis|hemochromatosis, type 1|symptomatic form of HFE-related hereditary hemochromatosis|HFE-associated hereditary hemochromatosis|hfe hemochromatosis, modifier of|symptomatic form of hemochromatosis type 1|HFE-related hemochromatosis|classic hemochromatosis	http://purl.obolibrary.org/obo/MONDO_0021001	https://omim.org/entry/235200|Orphanet:139498|NCIT:C84764|UMLS:CN242134|DOID:0111029	ordo_disease
MONDO:0008047	biolink:Disease	episodic ataxia type 1	Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.	UMLS:C1834559|SCTID:421182009|OMIM:160120|Orphanet:37612|Orphanet:972|UMLS:C1719788|UMLS:CN042654|DOID:0050989	mondo.json	EA1|ataxia, episodic, with myokymia|Isaacs-Mertens syndrome|episodic ataxia/myokymia syndrome|myokymia 1 with or without hypomagnesemia|continuous muscle fiber activity, hereditary|hereditary paroxysmal ataxia with neuromyotonia|acetazolamide-responsive periodic ataxia|continuous muscle fiber activity|KCNA1 hereditary episodic ataxia|myokymia with periodic ataxia|familial paroxysmal kinesigenic ataxia and continuous myokymia|paroxysmal ataxia with neuromyotonia, hereditary|episodic ataxia, type 1|myokymia 1|hereditary episodic ataxia caused by mutation in KCNA1|episodic ataxia with myokymia	http://purl.obolibrary.org/obo/MONDO_0008047	http://identifiers.org/snomedct/421182009|UMLS:C1719788|DOID:0050989|UMLS:CN042654|https://omim.org/entry/160120|Orphanet:37612	ordo_disease
MONDO:0008044	biolink:Disease	myoclonic dystonia 11	Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene.	DOID:0090034|OMIM:616398|OMIM:159900	mondo.json	myoclonus-dystonia syndrome|myoclonus-dystonia syndrome caused by mutation in SGCE|DYT11|alcohol-responsive dystonia|dystonia 11, myoclonic|myoclonic dystonia|myoclonic dystonia 11|SGCE myoclonus-dystonia syndrome|myoclonus, hereditary essential|dystonia-11, myoclonic|dystonia, alcohol-responsive|myoclonic dystonia type 11	http://purl.obolibrary.org/obo/MONDO_0008044	DOID:0090034|https://omim.org/entry/159900	ordo_disease
MONDO:0008045	biolink:Disease	spinal muscular atrophy-progressive myoclonic epilepsy syndrome	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.	Orphanet:2590|DOID:0111527|GARD:0003875|OMIM:159950|ICD9:345.10|GARD:0003044|MESH:C537563|UMLS:C1834569|SCTID:703524005	mondo.json	hereditary myoclonus and progressive distal muscular atrophy|myoclonus, hereditary, with progressive distal muscular atrophy|Jankovic Rivera syndrome|spinal muscular atrophy with progressive myoclonic epilepsy|SMAPME|Jankovic-Rivera syndrome|hereditary myoclonus-progressive distal muscular atrophy syndrome|myoclonus hereditary progressive distal muscular atrophy	http://purl.obolibrary.org/obo/MONDO_0008045	Orphanet:2590|http://identifiers.org/mesh/C537563|http://identifiers.org/snomedct/703524005|DOID:0111527|https://omim.org/entry/159950|UMLS:C1834569	ordo_disease|gard_rare
MONDO:0023660	biolink:Disease	angioedema, hereditary, 6		OMIM:619363	mondo.json	HAE6	http://purl.obolibrary.org/obo/MONDO_0023660	https://omim.org/entry/619363	
GO:1904057	biolink:NamedThing	negative regulation of sensory perception of pain	Any process that stops, prevents or reduces the frequency, rate or extent of sensory perception of pain.		mondo.json	downregulation of sensory perception of pain|down regulation of perception of physiological pain|down regulation of nociception|down-regulation of perception of physiological pain|negative regulation of perception of physiological pain|inhibition of nociception|down regulation of sensory perception of pain|downregulation of nociception|inhibition of sensory perception of pain|down-regulation of sensory perception of pain|inhibition of perception of physiological pain|downregulation of perception of physiological pain|down-regulation of nociception|negative regulation of nociception	http://purl.obolibrary.org/obo/GO_1904057		
MONDO:0011683	biolink:Disease	oculocutaneous albinism type 4	Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.	DOID:0070098|Orphanet:79435|UMLS:C1847836|SCTID:715632003|OMIM:606574|MESH:C564696	mondo.json	SLC45A2 oculocutaneous albinism|albinism, oculocutaneous, type IV|oculocutaneous albinism caused by mutation in SLC45A2|oculocutaneous albinism, type 4|OCA4|oculocutaneous albinism type IV|albinism, oculocutaneous, type 4	http://purl.obolibrary.org/obo/MONDO_0011683	http://identifiers.org/mesh/C564696|Orphanet:79435|http://identifiers.org/snomedct/715632003|DOID:0070098|UMLS:C1847836|https://omim.org/entry/606574	ordo_disease
MONDO:0008042	biolink:Disease	obsolete myoclonus and ataxia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0008042		
MONDO:0008043	biolink:Disease	myoclonus-cerebellar ataxia-deafness syndrome	This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.	UMLS:C1834579|GARD:0003873|MESH:C563549|OMIM:159800|Orphanet:2589	mondo.json	myoclonus, cerebellar ataxia, and deafness|myoclonus cerebellar ataxia deafness	http://purl.obolibrary.org/obo/MONDO_0008043	https://omim.org/entry/159800|http://identifiers.org/mesh/C563549|UMLS:C1834579|Orphanet:2589	ordo_malformation_syndrome
MONDO:0011682	biolink:Disease	episodic ataxia type 3	Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.	DOID:0050991|OMIM:606554|Orphanet:79135|UMLS:C1847839|MESH:C564697|SCTID:718755009	mondo.json	EA3|episodic ataxia, type 3|ataxia, episodic, with vertigo and tinnitus|episodic ataxia-vertigo-tinnitus-myokymia syndrome	http://purl.obolibrary.org/obo/MONDO_0011682	http://identifiers.org/mesh/C564697|UMLS:C1847839|https://omim.org/entry/606554|DOID:0050991|Orphanet:79135|http://identifiers.org/snomedct/718755009	ordo_disease
MONDO:0033010	biolink:Disease	erythrokeratodermia variabilis et progressiva 1		OMIM:133200|Orphanet:495|DOID:0111195	mondo.json	keratosis palmoplantaris transgrediens Et progrediens|erythrokeratodermia variabilis with erythema Gyratum Repens|erythrokeratodermia Figurata, congenital familial, in plaques|Greither disease|erythrokeratodermia variabilis ET progressiva 1|EKVP1|erythrokeratodermia variabilis Et progressiva|erythrokeratodermia variabilis|erythrokeratodermia, progressive symmetric	http://purl.obolibrary.org/obo/MONDO_0033010	DOID:0111195|https://omim.org/entry/133200	
MONDO:0035670	biolink:Disease	acute disseminated encephalomyelitis without anti-MOG antibodies		Orphanet:592900|ICD10CM:G04.0	mondo.json	Acute disseminated encephalomyelitis without anti-myelin oligodendrocyte glycoprotein antibodies	http://purl.obolibrary.org/obo/MONDO_0035670	Orphanet:592900	ordo_subtype_of_a_disorder
MONDO:0008040	biolink:Disease	transient myeloproliferative syndrome	A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission.	NCIT:C82339|UMLS:C1834582|MESH:C563551|SCTID:721307000|Orphanet:420611|HP:0005534|ONCOTREE:TAM|OMIM:159595|DOID:0060888|ICDO:9898/1|GARD:0012765	mondo.json	leukemia, transient|transient myeloproliferative disease|transient leurkemia of Down syndrome|myeloproliferative syndrome, transient|transient leukemia|leukemia, transient, of Down syndrome|TMD|Mst|transient myeloproliferative disorder|TAM|transient myeloproliferative syndrome|transient abnormal myelopoiesis|transient myeloproliferative syndrome (disease)|Transient abnormal myelopoiesis associated with Down syndrome|MST	http://purl.obolibrary.org/obo/MONDO_0008040	https://omim.org/entry/159595|http://identifiers.org/mesh/C563551|DOID:0060888|Orphanet:420611|UMLS:C1834582|http://identifiers.org/snomedct/721307000|NCIT:C82339	ordo_disease
MONDO:0011685	biolink:Disease	polysubstance abuse, susceptibility to		OMIM:606581	mondo.json	polysubstance abuse, susceptibility to|drug addiction, susceptibility to|PSAB	http://purl.obolibrary.org/obo/MONDO_0011685	https://omim.org/entry/606581	predisposition
MONDO:0011684	biolink:Disease	vitiligo-associated multiple autoimmune disease susceptibility 1		OMIM:606579|UMLS:C1847835|Orphanet:247871	mondo.json	vitiligo|vitiligo-associated multiple autoimmune disease susceptibility type 1|systemic lupus erythematosus, vitiligo-related|VAMAS1|vitiligo-associated multiple autoimmune disease susceptibility 1	http://purl.obolibrary.org/obo/MONDO_0011684	UMLS:C1847835|https://omim.org/entry/606579	predisposition
MONDO:0008041	biolink:Disease	myoclonic epilepsy, Hartung type		MESH:C563550|UMLS:C1834581|OMIM:159600	mondo.json	myoclonic epilepsy, Hartung type	http://purl.obolibrary.org/obo/MONDO_0008041	https://omim.org/entry/159600|http://identifiers.org/mesh/C563550|UMLS:C1834581	
MONDO:0011687	biolink:Disease	Charcot-Marie-Tooth disease axonal type 2F	Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.	UMLS:C1847823|Orphanet:99940|DOID:0110163|OMIM:606595|UMLS:C4304675|SCTID:719510006|GARD:0009194|MESH:C535413	mondo.json	Charcot-Marie-Tooth disease, axonal, type 2F|HSPB1 Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease, neuronal, type 2F|autosomal dominant Charcot-Marie-Tooth disease type 2F|Charcot-Marie-Tooth disease type 2F|Charcot-Marie-Tooth neuronal type 2F|CMT2F|Charcot-Marie-Tooth neuropathy, type 2F|CMT 2F|Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1|Charcot Marie Tooth disease type 2F|Charcot-Marie-Tooth neuropathy type 2F	http://purl.obolibrary.org/obo/MONDO_0011687	DOID:0110163|http://identifiers.org/mesh/C535413|UMLS:C1847823|https://omim.org/entry/606595|http://identifiers.org/snomedct/719510006|Orphanet:99940|UMLS:C4304675	ordo_disease|gard_rare
MONDO:0011686	biolink:Disease	DNA ligase IV deficiency	LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).	MESH:C564694|SCTID:724177005|DOID:0060021|UMLS:C1847827|NCIT:C122657|Orphanet:99812|OMIM:606593	mondo.json	DNA ligase IV deficiency|LIG4 syndrome|ligase 4 syndrome	http://purl.obolibrary.org/obo/MONDO_0011686	DOID:0060021|http://identifiers.org/snomedct/724177005|http://identifiers.org/mesh/C564694|UMLS:C1847827|https://omim.org/entry/606593|NCIT:C122657|Orphanet:99812	ordo_disease
MONDO:0011689	biolink:Disease	dyslexia, susceptibility to, 6		OMIM:606616	mondo.json	dyslexia, susceptibility to, 6|DYX6	http://purl.obolibrary.org/obo/MONDO_0011689	https://omim.org/entry/606616	predisposition
MONDO:0011688	biolink:Disease	muscular dystrophy-dystroglycanopathy type B5	A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.	UMLS:C1847759|DOID:0110635|MESH:C564691|Orphanet:370980|Orphanet:370959|Orphanet:370968|Orphanet:52428|OMIM:606612	mondo.json	MDC1C|muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5|FKRP-related congenital muscular dystrophy|muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5|muscular dystrophy, congenital, 1C|muscular dystrophy, congenital, FKRP-related|congenital muscular dystrophy 1C|congenital muscular dystrophy-FKRP related|MDDGB5	http://purl.obolibrary.org/obo/MONDO_0011688	http://identifiers.org/mesh/C564691|DOID:0110635|Orphanet:52428|UMLS:C1847759|https://omim.org/entry/606612	
MONDO:0035679	biolink:Disease	Timothy syndrome type 2	Classical Timothy syndrome without cutaneous syndactyly.	Orphanet:595105|ICD10CM:I49.8	mondo.json	TS2|LQT8 type 2	http://purl.obolibrary.org/obo/MONDO_0035679	Orphanet:595105	ordo_subtype_of_a_disorder
MONDO:0023659	biolink:Disease	developmental and epileptic encephalopathy 96		OMIM:619340	mondo.json	DEE96	http://purl.obolibrary.org/obo/MONDO_0023659	https://omim.org/entry/619340	
MONDO:0033015	biolink:Disease	erythrokeratodermia variabilis et progressiva 5		DOID:0080251|OMIM:617526|OMIM:617756	mondo.json	erythrokeratodermia variabilis ET progressiva 5|EKVP5	http://purl.obolibrary.org/obo/MONDO_0033015	DOID:0080251|https://omim.org/entry/617756	
MONDO:0035678	biolink:Disease	Timothy syndrome type 1	Classical Timothy syndrome with cutaneous syndactyly.	Orphanet:595098|ICD10CM:I49.8	mondo.json	TS1|LQT8 type 1	http://purl.obolibrary.org/obo/MONDO_0035678	Orphanet:595098	ordo_subtype_of_a_disorder
MONDO:0033013	biolink:Disease	erythrokeratodermia variabilis et progressiva 3		UMLS:C4479619|OMIM:617525|DOID:0080249	mondo.json	erythrokeratodermia variabilis ET progressiva 3|EKVP3	http://purl.obolibrary.org/obo/MONDO_0033013	DOID:0080249|UMLS:C4479619|https://omim.org/entry/617525	
MONDO:0033014	biolink:Disease	erythrokeratodermia variabilis et progressiva 4		DOID:0080250|OMIM:617526|UMLS:C4479620	mondo.json	erythrokeratodermia variabilis ET progressiva 4|erythrokeratodermia variabilis et progressiva 4|EKVP4	http://purl.obolibrary.org/obo/MONDO_0033014	DOID:0080250|UMLS:C4479620|https://omim.org/entry/617526	
MONDO:0011681	biolink:Disease	episodic ataxia type 4	Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia.	Orphanet:79136|UMLS:C1847843|OMIM:606552|MESH:C564698|SCTID:718754008|DOID:0050992	mondo.json	periodic vestibulocerebellar ataxia|episodic ataxia, type 4|ataxia, periodic vestibulocerebellar|EA4|PATX	http://purl.obolibrary.org/obo/MONDO_0011681	http://identifiers.org/snomedct/718754008|UMLS:C1847843|https://omim.org/entry/606552|Orphanet:79136|DOID:0050992|http://identifiers.org/mesh/C564698	ordo_disease
MONDO:0033012	biolink:Disease	erythrokeratodermia variabilis et progressiva 2		UMLS:C4479618|OMIM:617524|DOID:0080248	mondo.json	EKVP2|erythrokeratodermia variabilis ET progressiva 2	http://purl.obolibrary.org/obo/MONDO_0033012	DOID:0080248|UMLS:C4479618|https://omim.org/entry/617524	
MONDO:0011680	biolink:Disease	autosomal recessive congenital ichthyosis 3	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene.	MESH:C564699|OMIM:606545|DOID:0060711	mondo.json	collodion baby, self-healing|ichthyosis, lamellar, 5, formerly|ichthyosis, congenital, autosomal recessive 3|autosomal recessive congenital ichthyosis type 3|ichthyosis, lamellar, 5|lamellar ichthyosis 5|ARCI3|ichthyosis, congenital, autosomal recessive type 3	http://purl.obolibrary.org/obo/MONDO_0011680	DOID:0060711|https://omim.org/entry/606545|http://identifiers.org/mesh/C564699	
MONDO:0023650	biolink:Disease	littoral cell angioma of the spleen	Littoral cell angioma is a rare primary vascular neoplasm of the spleen, composed of littoral cells that line the splenic sinuses of the red pulp. It was thought to be a benign, incidental lesion. However, many recent reports have described it to be a malignant lesion with congenital and immunological associations. The definitive diagnosis can only be made after histology and immunohistochemistry studies.	GARD:0009714|UMLS:C1627365|MESH:C537031|SCTID:418040002	mondo.json	littoral cell angioma	http://purl.obolibrary.org/obo/MONDO_0023650	UMLS:C1627365|http://identifiers.org/mesh/C537031|http://identifiers.org/snomedct/418040002	gard_rare
MONDO:0023655	biolink:Disease	immunodeficiency 14b, autosomal recessive		OMIM:619281	mondo.json	IMD14B	http://purl.obolibrary.org/obo/MONDO_0023655	https://omim.org/entry/619281	
HGNC:24858	biolink:NamedThing	MFF			mondo.json		http://identifiers.org/hgnc/24858		
MONDO:0008019	biolink:Disease	mullerian aplasia and hyperandrogenism	Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina.	MESH:C567186|NCIT:C120376|Orphanet:3109|UMLS:C2675014|OMIM:158330|DOID:0111526|Orphanet:247768	mondo.json	mullerian aplasia and hyperandrogenism|Müllerian aplasia and hyperandrogenism|Mullerian duct failure and hyperandrogenism|WNT4 deficiency|Müllerian duct failure and hyperandrogenism	http://purl.obolibrary.org/obo/MONDO_0008019	Orphanet:247768|http://identifiers.org/mesh/C567186|UMLS:C2675014|NCIT:C120376|https://omim.org/entry/158330|DOID:0111526	ordo_malformation_syndrome
MONDO:0023657	biolink:Disease	intellectual developmental disorder, autosomal dominant 65		OMIM:619320	mondo.json	mental retardation, autosomal dominant 65|MRD65	http://purl.obolibrary.org/obo/MONDO_0023657	https://omim.org/entry/619320	
MONDO:0008017	biolink:Disease	hereditary mucoepithelial dysplasia	A condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition.	SCTID:403442005|Orphanet:1839|OMIM:158310|GARD:0005427|ICD9:478.79|MESH:C536476	mondo.json	Urban-Schosser-Spohn syndrome|HMD|mucoepithelial dysplasia, hereditary	http://purl.obolibrary.org/obo/MONDO_0008017	http://identifiers.org/snomedct/403442005|Orphanet:1839|http://identifiers.org/mesh/C536476|https://omim.org/entry/158310	ordo_malformation_syndrome|gard_rare
MONDO:0011669	biolink:Disease	hypotonia-cystinuria syndrome	A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.	MESH:C564710|Orphanet:238517|UMLS:CN226952|Orphanet:163690|SCTID:721173005|OMIM:606407|DOID:0060858|EFO:0007550	mondo.json	homozygous 2P16 deletion syndrome, formerly|homozygous 2P16 deletion syndrome|cystinuria with mitochondrial disease|hypotonia-cystinuria syndrome type 1|hypotonia-cystinuria syndrome|homozygous 2P21 deletion syndrome|hypotonia-cystinuria type 1 syndrome|HCS	http://purl.obolibrary.org/obo/MONDO_0011669	Orphanet:238517|UMLS:CN226952|Orphanet:163690|http://identifiers.org/mesh/C564710|DOID:0060858|http://identifiers.org/snomedct/721173005|https://omim.org/entry/606407	disease_grouping|ordo_group_of_disorders|ordo_disease
MONDO:0011668	biolink:Disease	maturity-onset diabetes of the young type 6	Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes.	SCTID:609573005|GARD:0010660|MESH:C565231|DOID:0111104|UMLS:C1853371|NCIT:C129745|OMIM:606394	mondo.json	NEUROD1 maturity-onset diabetes of the young (disease)|diabetes mellitus MODY type 6|MODY, type 6|neurogenic differentiation Factor 1-associated monogenic diabetes|type 6 maturity-onset diabetes of the young|maturity onset diabetes of the Young, type 6|maturity-onset diabetes of the young 6|MODY type 6|NEUROD1-associated monogenic diabetes|maturity-onset diabetes of the young (disease) caused by mutation in NEUROD1|maturity-onset diabetes of the young, type 6|MODY6|MODY NEUROD1 related	http://purl.obolibrary.org/obo/MONDO_0011668	NCIT:C129745|DOID:0111104|http://identifiers.org/mesh/C565231|UMLS:C1853371|http://identifiers.org/snomedct/609573005|https://omim.org/entry/606394	gard_rare
MONDO:0008018	biolink:Disease	Muir-Torre syndrome	Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma.	MESH:D055653|NCIT:C84905|SCTID:403824007|Orphanet:587|OMIM:158320|MedDRA:10063042|DOID:0050465|GARD:0006821|UMLS:C1321489	mondo.json	cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and Other carcinomas|MRTES|cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas|multiple keratoacanthoma, Muir-Torre type|MUIR-Torre syndrome|Muir-Torre syndrome	http://purl.obolibrary.org/obo/MONDO_0008018	NCIT:C84905|UMLS:C1321489|http://identifiers.org/mesh/D055653|DOID:0050465|Orphanet:587|https://omim.org/entry/158320|http://identifiers.org/snomedct/403824007	ordo_clinical_subtype
MONDO:0045008	biolink:Disease	cholesterol metabolism disease	A disease that has its basis in the disruption of cholesterol metabolic process.	UMLS:C0342877|SCTID:123963007	mondo.json	cholesterol metabolic process disease|cholesterol metabolism disease|disorder of cholesterol metabolism|disorder of cholesterol metabolic process	http://purl.obolibrary.org/obo/MONDO_0045008	UMLS:C0342877|http://identifiers.org/snomedct/123963007	
MONDO:0008015	biolink:Disease	motion sickness	A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting.	EFO:0006928|DOID:2951|ICD10CM:T75.3|OMIM:158280|ICD9:994.6|MESH:D009041|UMLS:C0026603	mondo.json	motion sickness|travel sickness	http://purl.obolibrary.org/obo/MONDO_0008015	http://purl.bioontology.org/ontology/ICD10CM/T75.3|http://identifiers.org/mesh/D009041|UMLS:C0026603|https://omim.org/entry/158280|DOID:2951	
MONDO:0008016	biolink:Disease	trismus-pseudocamptodactyly syndrome		UMLS:C0265226|Orphanet:3377|SCTID:8757006|ICD9:759.89|MESH:C535857|OMIM:158300|GARD:0002621	mondo.json	trismus-pseudocamptodactyly syndrome|Hecht-Beals syndrome|mouth, inability to open completely, and short finger-flexor tendons|DA7|distal arthrogryposis type 7|Dutch-Kentucky syndrome|Hecht syndrome|arthrogryposis, distal, type 7|arthrogryposis distal type 7	http://purl.obolibrary.org/obo/MONDO_0008016	Orphanet:3377|UMLS:C0265226|http://identifiers.org/snomedct/8757006|https://omim.org/entry/158300|http://identifiers.org/mesh/C535857	ordo_malformation_syndrome
MONDO:0008013	biolink:Disease	chromosome 9p deletion syndrome	Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.	DOID:0060732|Orphanet:261112|OMIM:158170|SCTID:62599000|GARD:0003773|ICD9:758.39|MESH:C538024	mondo.json	partial deletion of the short arm of chromosome 9|9p deletion|monosomy 9p|partial deletion of chromosome 9p|9p- syndrome|9p syndrome|9p monosomy|9p deletion syndrome|chromosome 9p deletion|Alfi syndrome|partial deletion of the short arm of chromosome type 9|partial monosomy 9p|partial monosomy of the short arm of chromosome 9|monosomy 9p syndrome|deletion 9p|partial monosomy of chromosome 9p|monosomy type 9p	http://purl.obolibrary.org/obo/MONDO_0008013	Orphanet:261112|http://identifiers.org/mesh/C538024|https://omim.org/entry/158170|DOID:0060732|http://identifiers.org/snomedct/62599000	disease_grouping|ordo_malformation_syndrome
MONDO:0045002	biolink:Disease	vertebral disorder	A disease or disorder that involves the vertebra.	UMLS:C2316319|SCTID:430886005	mondo.json	vertebra disease or disorder|vertebra disease|disease of vertebra|disease or disorder of vertebra|disorder of vertebra	http://purl.obolibrary.org/obo/MONDO_0045002	http://identifiers.org/snomedct/430886005|UMLS:C2316319	
MONDO:0008014	biolink:Disease	nondisjunction		OMIM:158250|UMLS:C1834741	mondo.json	mosaicism, chromosomal|nondisjunction|mixoploidy, familial	http://purl.obolibrary.org/obo/MONDO_0008014	UMLS:C1834741|https://omim.org/entry/158250	
MONDO:0045001	biolink:Disease	cardiac ventricle disorder	A disease or disorder that involves the cardiac ventricle.	SCTID:415991003|UMLS:C1562298	mondo.json	disease or disorder of cardiac ventricle|cardiac ventricle disease or disorder|cardiac ventricle disease|disease of cardiac ventricle|disorder of cardiac ventricle	http://purl.obolibrary.org/obo/MONDO_0045001	UMLS:C1562298|http://identifiers.org/snomedct/415991003	
MONDO:0060631	biolink:Disease	Alkuraya-Kucinskas syndrome		UMLS:CN737163|Orphanet:610569|OMIM:617822|DOID:0111555	mondo.json	ALKKUCS|Alkuraya-Kucinskas syndrome	http://purl.obolibrary.org/obo/MONDO_0060631	Orphanet:610569|UMLS:CN737163|https://omim.org/entry/617822|DOID:0111555	
MONDO:0045004	biolink:Disease	skeletal ligament disorder	A disease or disorder that involves the skeletal ligament.		mondo.json	disease or disorder of skeletal ligament|skeletal ligament disease or disorder|disease of skeletal ligament|disorder of skeletal ligament	http://purl.obolibrary.org/obo/MONDO_0045004		
MONDO:0008011	biolink:Disease	antigen defined by monoclonal antibody T87		OMIM:158040	mondo.json	antigen defined by monoclonal antibody T87|Msk2	http://purl.obolibrary.org/obo/MONDO_0008011	https://omim.org/entry/158040	
MONDO:0045003	biolink:Disease	scrotal disorder	A disease or disorder that involves the scrotum.	SCTID:49701002|UMLS:C0268919	mondo.json	scrotum disease|disease of scrotum|disorder of scrotum|disease or disorder of scrotum|scrotum disease or disorder	http://purl.obolibrary.org/obo/MONDO_0045003	http://identifiers.org/snomedct/49701002|UMLS:C0268919	
MONDO:0008012	biolink:Disease	Monophalangy of great toe		OMIM:158100|MESH:C563570|UMLS:C1834753	mondo.json	Monophalangy of great toe	http://purl.obolibrary.org/obo/MONDO_0008012	UMLS:C1834753|https://omim.org/entry/158100|http://identifiers.org/mesh/C563570	
GO:1904058	biolink:NamedThing	positive regulation of sensory perception of pain	Any process that activates or increases the frequency, rate or extent of sensory perception of pain.		mondo.json	up-regulation of sensory perception of pain|activation of sensory perception of pain|activation of perception of physiological pain|upregulation of perception of physiological pain|up-regulation of nociception|upregulation of sensory perception of pain|up regulation of nociception|positive regulation of perception of physiological pain|positive regulation of nociception|activation of nociception|up regulation of perception of physiological pain|up-regulation of perception of physiological pain|up regulation of sensory perception of pain|upregulation of nociception	http://purl.obolibrary.org/obo/GO_1904058		
MONDO:0011672	biolink:Disease	persistent polyclonal B-cell lymphocytosis	Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.	Orphanet:300324|OMIM:606445|MESH:C564707|UMLS:C1847973|SCTID:763864008	mondo.json	persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes|PPBL|persistent polyclonal B-cell lymphocytosis	http://purl.obolibrary.org/obo/MONDO_0011672	http://identifiers.org/mesh/C564707|Orphanet:300324|UMLS:C1847973|https://omim.org/entry/606445|http://identifiers.org/snomedct/763864008	ordo_disease
NCIT:C15497	biolink:NamedThing	Progesterone Receptor Negative			mondo.json		http://purl.obolibrary.org/obo/NCIT_C15497		http://purl.obolibrary.org/obo/NCIT_C142800|http://purl.obolibrary.org/obo/NCIT_C142799|http://purl.obolibrary.org/obo/NCIT_C159413|http://purl.obolibrary.org/obo/NCIT_C116977|http://purl.obolibrary.org/obo/NCIT_C156952|http://purl.obolibrary.org/obo/NCIT_C156953
MONDO:0035683	biolink:Disease	obsolete adrenal hypoplasia congenita		Orphanet:595337	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035683	Orphanet:595337	
MONDO:0011671	biolink:Disease	Huntington disease-like 2	Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities.	MESH:C564708|UMLS:C1847987|Orphanet:98934|OMIM:606438|DOID:0090104|SCTID:721228006	mondo.json	Huntington disease-like 2|Huntington's disease-like 2|HDL2|Huntington disease-like type 2	http://purl.obolibrary.org/obo/MONDO_0011671	http://identifiers.org/mesh/C564708|UMLS:C1847987|http://identifiers.org/snomedct/721228006|https://omim.org/entry/606438|Orphanet:98934|DOID:0090104	ordo_disease
MONDO:0035682	biolink:Disease	fibrous dysplasia/McCune-Albright syndrome		Orphanet:595216	mondo.json	FD/MAS syndrome|FD/MAS spectrum|Fibrous dysplasia/McCune-Albright spectrum	http://purl.obolibrary.org/obo/MONDO_0035682	Orphanet:595216	ordo_group_of_disorders
HGNC:12874	biolink:NamedThing	ZIC3			mondo.json		http://identifiers.org/hgnc/12874		
MONDO:0008010	biolink:Disease	antigen defined by monoclonal antibody Aj9		OMIM:158030	mondo.json	antigen defined by monoclonal antibody Aj9|Msk1	http://purl.obolibrary.org/obo/MONDO_0008010	https://omim.org/entry/158030	
MONDO:0011674	biolink:Disease	Charcot-Marie-Tooth disease dominant intermediate B	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.	Orphanet:100044|OMIM:606482|UMLS:CN197338|DOID:0110197|SCTID:765745007|GARD:0012438	mondo.json	Charcot-Marie-Tooth disease, axonal type 2M|Charcot-Marie-Tooth disease, dominant intermediate B|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2M|CMTDIB|Charcot-Marie-Tooth neuropathy, axonal, type 2M|Charcot-Marie-Tooth disease, dominant Intermediate B, with neutropenia|Charcot-Marie-Tooth neuropathy, dominant Intermediate B|autosomal dominant intermediate Charcot-Marie-Tooth disease type B|Charcot-Marie-Tooth disease dominant intermediate type B|Charcot-Marie-Tooth disease, dominant Intermediate type B|DI-CMTB|CMTDI1|DNM2-related intermediate Charcot-Marie-Tooth neuropathy|Charcot-Marie-Tooth disease, axonal, type 2M|Cmtdi1|Di-CMTB|Charcot-Marie-Tooth neuropathy, dominant Intermediate B, with neutropenia|DNM2 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease caused by mutation in DNM2|Charcot-Marie-Tooth neuropathy dominant intermediate B	http://purl.obolibrary.org/obo/MONDO_0011674	DOID:0110197|UMLS:CN197338|Orphanet:100044|https://omim.org/entry/606482|http://identifiers.org/snomedct/765745007	ordo_disease
HGNC:12873	biolink:NamedThing	ZIC2			mondo.json		http://identifiers.org/hgnc/12873		
NCIT:C15496	biolink:NamedThing	Progesterone Receptor Positive			mondo.json		http://purl.obolibrary.org/obo/NCIT_C15496		http://purl.obolibrary.org/obo/NCIT_C142799|http://purl.obolibrary.org/obo/NCIT_C142800|http://purl.obolibrary.org/obo/NCIT_C159413|http://purl.obolibrary.org/obo/NCIT_C116977|http://purl.obolibrary.org/obo/NCIT_C156952|http://purl.obolibrary.org/obo/NCIT_C156953
MONDO:0011673	biolink:Disease	autosomal dominant nonsyndromic hearing loss 30	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26.	UMLS:C1847972|MESH:C564706|DOID:0110560|OMIM:606451	mondo.json	DFNA30|autosomal dominant nonsyndromic deafness 30|autosomal dominant nonsyndromic deafness type 30|autosomal dominant deafness 30|deafness, autosomal dominant 30	http://purl.obolibrary.org/obo/MONDO_0011673	DOID:0110560|http://identifiers.org/mesh/C564706|UMLS:C1847972|https://omim.org/entry/606451	
HGNC:12872	biolink:NamedThing	ZIC1			mondo.json		http://identifiers.org/hgnc/12872		
MONDO:0011676	biolink:Disease	PHACE syndrome	PHACE is an acronym used to describe a syndrome characterised by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery.	GARD:0008338|MedDRA:10068032|UMLS:C1847874|Orphanet:42775|OMIM:606519	mondo.json	Phaces association|Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities|aortic aneurysm, giant congenital|pascual-Castroviejo type II syndrome|P-CIIS|pascual-Castroviejo syndrome type 2|PHACE association	http://purl.obolibrary.org/obo/MONDO_0011676	Orphanet:42775|UMLS:C1847874|https://omim.org/entry/606519	ordo_malformation_syndrome
GO:1904064	biolink:NamedThing	positive regulation of cation transmembrane transport	Any process that activates or increases the frequency, rate or extent of cation transmembrane transport.		mondo.json	upregulation of cation transmembrane transport|up regulation of cation transmembrane transport|up-regulation of cation transmembrane transport|activation of cation transmembrane transport	http://purl.obolibrary.org/obo/GO_1904064		
MONDO:0011675	biolink:Disease	Charcot-Marie-Tooth Disease, axonal, type 2GG	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards.	DOID:0110202|MESH:C564702|Orphanet:100043|SCTID:765744006|UMLS:C1847896|GARD:0012437|OMIM:606483	mondo.json	Charcot-Marie-Tooth disease dominant intermediate type A|CMT2GG|Charcot-Marie-Tooth disease, dominant intermediate A|Charcot-Marie-Tooth neuropathy dominant intermediate A|Charcot-Marie-Tooth neuropathy, dominant Intermediate a|Charcot-Marie-Tooth disease dominant intermediate A|CMTDIA|Di-Cmta|autosomal dominant intermediate Charcot-Marie-Tooth disease type A|DI-CMTA	http://purl.obolibrary.org/obo/MONDO_0011675	DOID:0110202|http://identifiers.org/snomedct/765744006|http://identifiers.org/mesh/C564702|Orphanet:100043|UMLS:C1847896|https://omim.org/entry/606483	ordo_disease
GO:1904063	biolink:NamedThing	negative regulation of cation transmembrane transport	Any process that stops, prevents or reduces the frequency, rate or extent of cation transmembrane transport.		mondo.json	inhibition of cation transmembrane transport|down-regulation of cation transmembrane transport|downregulation of cation transmembrane transport|down regulation of cation transmembrane transport	http://purl.obolibrary.org/obo/GO_1904063		
MONDO:0011678	biolink:Disease	homozygous 11P15-p14 deletion syndrome		UMLS:C1847866|MESH:C564701|OMIM:606528	mondo.json	homozygous 11P15-p14 deletion syndrome|chromosome 11p15-p14 deletion syndrome|hyperinsulinism, infantile, with enteropathy and deafness	http://purl.obolibrary.org/obo/MONDO_0011678	http://identifiers.org/mesh/C564701|UMLS:C1847866|https://omim.org/entry/606528	
HGNC:12877	biolink:NamedThing	ZMPSTE24			mondo.json		http://identifiers.org/hgnc/12877		
GO:1904062	biolink:NamedThing	regulation of cation transmembrane transport	Any process that modulates the frequency, rate or extent of cation transmembrane transport.		mondo.json		http://purl.obolibrary.org/obo/GO_1904062		
MONDO:0011677	biolink:Disease	Megarbane syndrome		OMIM:606527|GARD:0009979|MESH:C536145|UMLS:C1847871	mondo.json	short stature, abnormal face, joint laxity, hernias, delayed bone age, and severe psychomotor retardation|Megarbane syndrome	http://purl.obolibrary.org/obo/MONDO_0011677	UMLS:C1847871|https://omim.org/entry/606527|http://identifiers.org/mesh/C536145	gard_rare
UBERON:0019293	biolink:AnatomicalEntity	white matter of pontine tegmentum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019293		
UBERON:0019294	biolink:AnatomicalEntity	commissure of telencephalon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019294		
MONDO:0035689	biolink:Disease	syndrome of reduced sensitivity to thyroid hormone		Orphanet:596426	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035689	Orphanet:596426	ordo_group_of_disorders
UBERON:0019291	biolink:AnatomicalEntity	white matter of metencephalon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019291		
UBERON:0019292	biolink:AnatomicalEntity	white matter of pons			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019292		
NCIT:C15493	biolink:NamedThing	Estrogen Receptor Negative			mondo.json		http://purl.obolibrary.org/obo/NCIT_C15493		http://purl.obolibrary.org/obo/NCIT_C159413|http://purl.obolibrary.org/obo/NCIT_C157524|http://purl.obolibrary.org/obo/NCIT_C116977|http://purl.obolibrary.org/obo/NCIT_C156952|http://purl.obolibrary.org/obo/NCIT_C156953|http://purl.obolibrary.org/obo/NCIT_C142799|http://purl.obolibrary.org/obo/NCIT_C142800
MONDO:0011670	biolink:Disease	Ehlers-Danlos syndrome due to tenascin-X deficiency		Orphanet:230839|OMIM:606408|MESH:C536193|UMLS:C1848029|GARD:0008507	mondo.json	EDS due to Tnx deficiency|Ehlers-Danlos syndrome, classic-like|EDS due to TNX deficiency|EDSCLL|Ehlers-Danlos syndrome due to tenascin-X deficiency|Ehlers-Danlos syndrome, classic-like, 1|Ehlers-Danlos-like syndrome due to tenascin-X deficiency|Ehlers-Danlos syndrome, classic-like type|classical-like Ehlers-Danlos syndrome|classical-like EDS|clEDS|Tnx deficiency|EDS, classic-like type|TNX deficiency	http://purl.obolibrary.org/obo/MONDO_0011670	UMLS:C1848029|https://omim.org/entry/606408|http://identifiers.org/mesh/C536193|Orphanet:230839	ordo_disease
MONDO:0035685	biolink:Disease	epidermolysis bullosa simplex with extracutaneous involvement		Orphanet:595351	mondo.json	EBS with extracutaneous involvement	http://purl.obolibrary.org/obo/MONDO_0035685	Orphanet:595351	ordo_group_of_disorders
MONDO:0035684	biolink:Disease	epidermolysis bullosa simplex without extracutaneous involvement		Orphanet:595346	mondo.json	EBS without extracutaneous involvement	http://purl.obolibrary.org/obo/MONDO_0035684	Orphanet:595346	ordo_group_of_disorders
NCIT:C15492	biolink:NamedThing	Estrogen Receptor Positive			mondo.json		http://purl.obolibrary.org/obo/NCIT_C15492		http://purl.obolibrary.org/obo/NCIT_C159413|http://purl.obolibrary.org/obo/NCIT_C116977|http://purl.obolibrary.org/obo/NCIT_C157524|http://purl.obolibrary.org/obo/NCIT_C156952|http://purl.obolibrary.org/obo/NCIT_C156953|http://purl.obolibrary.org/obo/NCIT_C142799|http://purl.obolibrary.org/obo/NCIT_C142800
NCBITaxon:803	biolink:OrganismalEntity	Bartonella quintana		GC_ID:11|PMID:8240958	mondo.json	Rickettsia quintana|Rickettsia pediculi|Rickettsia weigli|Rickettsia wolhynica|Burnetia (Rocha-limae) wolhynica|Wolhynia qintanae|Rochalimaea quintana	http://purl.obolibrary.org/obo/NCBITaxon_803		
MONDO:0045011	biolink:Disease	keratinization disease		UMLS:C0475811|SCTID:277905003	mondo.json	keratinization disease|disorder of keratinization	http://purl.obolibrary.org/obo/MONDO_0045011	http://identifiers.org/snomedct/277905003|UMLS:C0475811	
HGNC:24862	biolink:NamedThing	MOGS			mondo.json		http://identifiers.org/hgnc/24862		
MONDO:0045010	biolink:Disease	glycoprotein metabolism disease	A disease that has its basis in the disruption of glycoprotein metabolic process.	SCTID:238045003|UMLS:C0342844	mondo.json	glycoprotein metabolic process disease|glycoprotein metabolism disease|disorder of glycoprotein metabolism|disorder of glycoprotein metabolic process	http://purl.obolibrary.org/obo/MONDO_0045010	http://identifiers.org/snomedct/238045003|UMLS:C0342844	
MONDO:0023642	biolink:Disease	Weber syndrome		UMLS:C0455717|GARD:0008676|ICD9:344.89|SCTID:24654003	mondo.json	Weber-Gubler syndrome|Midbrain stroke syndromes|Weber Syndrome	http://purl.obolibrary.org/obo/MONDO_0023642	http://identifiers.org/snomedct/24654003|UMLS:C0455717	gard_rare
MONDO:0060629	biolink:Disease	neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive		UMLS:CN737161|OMIM:617820	mondo.json	NDHMSR|neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0060629	UMLS:CN737161|https://omim.org/entry/617820	
MONDO:0023644	biolink:Disease	lip and oral cavity carcinoma	A carcinoma arising in the lip or oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. Lip carcinomas are usually basal cell or squamous cell carcinomas.	NCIT:C9315|GARD:0009360|UMLS:C0220641|GARD:0009342	mondo.json	oral cancer|lip and oral cavity carcinoma|lip and oral cavity cancer|oral carcinoma	http://purl.obolibrary.org/obo/MONDO_0023644	NCIT:C9315|UMLS:C0220641	gard_rare
MONDO:0060627	biolink:Disease	glycosylphosphatidylinositol biosynthesis defect 15		Orphanet:529665|UMLS:C4540520|OMIM:617810	mondo.json	developmental delay, epilepsy, cerebellar atrophy, and osteopenia|glycosylphosphatidylinositol biosynthesis defect 15|GPIBD15	http://purl.obolibrary.org/obo/MONDO_0060627	UMLS:C4540520|Orphanet:529665|https://omim.org/entry/617810	ordo_malformation_syndrome
HGNC:24866	biolink:NamedThing	CEP104			mondo.json		http://identifiers.org/hgnc/24866		
MONDO:0023646	biolink:Disease	lipodermatosclerosis	Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy.	GARD:0009671|MESH:C537026|UMLS:C0406500|SCTID:410016009	mondo.json	hypodermitis sclerodermaformis|acute lipodermatosclerosis|sclerosing panniculitis	http://purl.obolibrary.org/obo/MONDO_0023646	http://identifiers.org/mesh/C537026|UMLS:C0406500|http://identifiers.org/snomedct/410016009	gard_rare
MONDO:0045017	biolink:Disease	cholesterol biosynthetic process disease	A disease that has its basis in the disruption of cholesterol biosynthetic process.	SCTID:238036004|UMLS:C0342829	mondo.json	disorder of cholesterol synthesis|disorder of cholesterol biosynthetic process|cholesterol synthesis disease	http://purl.obolibrary.org/obo/MONDO_0045017	http://identifiers.org/snomedct/238036004|UMLS:C0342829	
MONDO:0011658	biolink:Disease	autosomal recessive early-onset Parkinson disease 7	Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene.	MESH:C565238|UMLS:C1853445|DOID:0060370|OMIM:606324	mondo.json	Parkinson disease caused by mutation in PARK7|autosomal recessive early-onset Parkinson disease 7|PARK7|autosomal recessive early-onset Parkinson's disease 7|PARK7 Parkinson disease|autosomal recessive early-onset Parkinson disease type 7|Parkinson disease 7, autosomal recessive early-onset	http://purl.obolibrary.org/obo/MONDO_0011658	https://omim.org/entry/606324|http://identifiers.org/mesh/C565238|DOID:0060370|UMLS:C1853445	
NCBITaxon:2826938	biolink:OrganismalEntity	Brucella/Ochrobactrum group		PMID:32373076|GC_ID:11|PMID:35335701	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2826938		
MONDO:0008028	biolink:Disease	muscular dystrophy, Barnes type		MESH:C563558|OMIM:158800|UMLS:C1834688	mondo.json	muscular dystrophy, Barnes type	http://purl.obolibrary.org/obo/MONDO_0008028	UMLS:C1834688|https://omim.org/entry/158800|http://identifiers.org/mesh/C563558	
MONDO:0045016	biolink:Disease	cholesterol catabolic process disease	A disease that has its basis in the disruption of cholesterol catabolic process.	SCTID:238032002|UMLS:C0342825	mondo.json	disorder of cholesterol catabolism|cholesterol catabolism disease|disorder of cholesterol catabolic process	http://purl.obolibrary.org/obo/MONDO_0045016	http://identifiers.org/snomedct/238032002|UMLS:C0342825	
MONDO:0011657	biolink:Disease	autosomal dominant nonsyndromic hearing loss 24	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter.	MESH:C565239|GARD:0009166|UMLS:C1853451|OMIM:606282|DOID:0110554	mondo.json	deafness, autosomal dominant nonsyndromic sensorineural 24|autosomal dominant nonsyndromic deafness 24|DFNA24|deafness, autosomal dominant 24|autosomal dominant deafness 24|autosomal dominant nonsyndromic deafness type 24|DFNA 24	http://purl.obolibrary.org/obo/MONDO_0011657	https://omim.org/entry/606282|http://identifiers.org/mesh/C565239|DOID:0110554|UMLS:C1853451	
MONDO:0008029	biolink:Disease	Bethlem myopathy	A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles.	OMIMPS:158810|NCIT:C126688|Orphanet:610|MESH:C535436|SCTID:718572004|GARD:0000873|UMLS:C1834674|DOID:0050663	mondo.json	BTHLM1|benign autosomal dominant myopathy|Bethlem myopathy 1|Bethlem myopathy type 1|benign congenital muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0008029	UMLS:C1834674|DOID:0050663|Orphanet:610|http://identifiers.org/mesh/C535436|https://omim.org/phenotypicSeries/PS158810|NCIT:C126688|http://identifiers.org/snomedct/718572004	ordo_disease|prototype_pattern
MONDO:0060624	biolink:Disease	neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter		OMIM:617807|UMLS:C4540498	mondo.json	neurodevelopmental disorder with ataxic GAIT, absent speech, and decreased cortical WHITE matter|NDAGSCW	http://purl.obolibrary.org/obo/MONDO_0060624	https://omim.org/entry/617807|UMLS:C4540498	
MONDO:0008026	biolink:Disease	autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures		UMLS:C1834690|OMIM:158600|MESH:C563560|Orphanet:209341	mondo.json	Kugelberg-Welander syndrome, autosomal dominant|spinal muscular atrophy, juvenile, proximal, autosomal dominant|spinal muscular atrophy, lower extremity-predominant 1, AD|spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant|SMALED1|spinal muscular atrophy, childhood, proximal, autosomal dominant|Sma-led|Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures	http://purl.obolibrary.org/obo/MONDO_0008026	UMLS:C1834690|Orphanet:209341|https://omim.org/entry/158600|http://identifiers.org/mesh/C563560	ordo_clinical_subtype
MONDO:0045019	biolink:Disease	lactation disease		SCTID:35046003|UMLS:C0022927	mondo.json	lactation disease|disorder of lactation	http://purl.obolibrary.org/obo/MONDO_0045019	UMLS:C0022927|http://identifiers.org/snomedct/35046003	
MONDO:0008027	biolink:Disease	muscular atrophy, malignant neurogenic		MESH:C563559|OMIM:158650|UMLS:C1834689	mondo.json	muscular atrophy, malignant neurogenic	http://purl.obolibrary.org/obo/MONDO_0008027	UMLS:C1834689|https://omim.org/entry/158650|http://identifiers.org/mesh/C563559	
MONDO:0011659	biolink:Disease	heterotaxy, visceral, 3, autosomal		MESH:C565237|UMLS:C1853444|OMIM:606325	mondo.json	HTX3|heterotaxy, visceral, 3, autosomal	http://purl.obolibrary.org/obo/MONDO_0011659	https://omim.org/entry/606325|http://identifiers.org/mesh/C565237|UMLS:C1853444	
NCBITaxon:266068	biolink:OrganismalEntity	Rickettsia sibirica subgroup		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_266068		
MONDO:0045018	biolink:Disease	creatine biosynthetic process disease	A disease that has its basis in the disruption of creatine biosynthetic process.	UMLS:C0574079|SCTID:297226004	mondo.json	creatine synthesis disease|disorder of creatine biosynthetic process|disorder of creatine synthesis	http://purl.obolibrary.org/obo/MONDO_0045018	http://identifiers.org/snomedct/297226004|UMLS:C0574079	
MONDO:0060622	biolink:Disease	neurodevelopmental disorder with severe motor impairment and absent language		OMIM:617804|UMLS:C4540496	mondo.json	neurodevelopmental disorder with severe motor impairment and absent language|NEDMIAL	http://purl.obolibrary.org/obo/MONDO_0060622	https://omim.org/entry/617804|UMLS:C4540496	
MONDO:0008024	biolink:Disease	neuronopathy, distal hereditary motor, type 7A	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene.	UMLS:C1834703|MESH:C563562|OMIM:158580|DOID:0111201	mondo.json	HMN7A|neuronopathy, distal hereditary motor, type VIIA|spinal muscular atrophy, distal, with vocal cord paralysis|Harper-Young myopathy|SLC5A7 neuronopathy, distal hereditary motor|HMN 7A|Dhmn7A|Dhmnvp|neuropathy, distal hereditary motor, type 7A|neuronopathy, distal hereditary motor caused by mutation in SLC5A7	http://purl.obolibrary.org/obo/MONDO_0008024	UMLS:C1834703|DOID:0111201|https://omim.org/entry/158580|http://identifiers.org/mesh/C563562	
MONDO:0045013	biolink:Disease	disorder of extraembryonic membrane	A disease or disorder that involves the extraembryonic membrane.	SCTID:609522002|UMLS:C3662139	mondo.json	disease or disorder of extraembryonic membrane|extraembryonic membrane disease or disorder|extraembryonic membrane disease|disease of extraembryonic membrane|disorder of extraembryonic membrane	http://purl.obolibrary.org/obo/MONDO_0045013	http://identifiers.org/snomedct/609522002|UMLS:C3662139	
MONDO:0060621	biolink:Disease	neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy		OMIM:617802|UMLS:C4540493	mondo.json	NDMSCA|neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	http://purl.obolibrary.org/obo/MONDO_0060621	https://omim.org/entry/617802|UMLS:C4540493	
MONDO:0008025	biolink:Disease	neuronopathy, distal hereditary motor, type 2A	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene.	UMLS:C1834692|DOID:0111208|MESH:C563561|OMIM:158590	mondo.json	neuronopathy, distal hereditary motor caused by mutation in HSPB8|spinal muscular atrophy, distal, adult, autosomal dominant, 2A|HMN 2A|neuropathy, distal hereditary motor, type 2A|HMN2A|HSPB8 neuronopathy, distal hereditary motor|neuronopathy, distal hereditary motor, type IIA|Charcot-Marie-Tooth disease, spinal, 2A	http://purl.obolibrary.org/obo/MONDO_0008025	UMLS:C1834692|DOID:0111208|https://omim.org/entry/158590|http://identifiers.org/mesh/C563561	
MONDO:0045012	biolink:Disease	steroid metabolism disease	A disease that has its basis in the disruption of steroid metabolic process.	UMLS:C0268283|SCTID:28710006	mondo.json	steroid metabolism disease|disorder of steroid metabolism|disorder of steroid metabolic process|steroid metabolic process disease	http://purl.obolibrary.org/obo/MONDO_0045012	UMLS:C0268283|http://identifiers.org/snomedct/28710006	
HGNC:24861	biolink:NamedThing	G6PC3			mondo.json		http://identifiers.org/hgnc/24861		
MONDO:0008022	biolink:Disease	muscle cramps, familial		OMIM:158400|MESH:C563563|UMLS:C1834708	mondo.json	muscle cramps, familial	http://purl.obolibrary.org/obo/MONDO_0008022	UMLS:C1834708|https://omim.org/entry/158400|http://identifiers.org/mesh/C563563	
MONDO:0045015	biolink:Disease	carbohydrate transport disease	A disease that has its basis in the disruption of carbohydrate transport.	SCTID:54905006|UMLS:C0268173	mondo.json	carbohydrate transport disease|disorder of carbohydrate transport	http://purl.obolibrary.org/obo/MONDO_0045015	UMLS:C0268173|http://identifiers.org/snomedct/54905006	
MONDO:0008023	biolink:Disease	muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome	This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus.	GARD:0002417|ICD9:728.2|OMIM:158500|Orphanet:2579|SCTID:237611007	mondo.json	muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus|Furukawa-Takagi-Nakao syndrome|muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus	http://purl.obolibrary.org/obo/MONDO_0008023	Orphanet:2579|https://omim.org/entry/158500|http://identifiers.org/snomedct/237611007	gard_rare|ordo_disease
MONDO:0045014	biolink:Disease	tetrahydrobiopterin metabolic process disease	A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process.	UMLS:C0342676|SCTID:237913008	mondo.json	tetrahydrobiopterin metabolism disease|disorder of tetrahydrobiopterin metabolic process|disorder of tetrahydrobiopterin metabolism	http://purl.obolibrary.org/obo/MONDO_0045014	http://identifiers.org/snomedct/237913008|UMLS:C0342676	
MONDO:0011661	biolink:Disease	inflammatory bowel disease 5	An inflammatory bowel disease that has material basis in variation in the chromosome region 5q31.	MESH:C565234|DOID:0110889|OMIM:606348|UMLS:C1853438	mondo.json	IBD5|inflammatory bowel disease type 5|inflammatory bowel disease 5	http://purl.obolibrary.org/obo/MONDO_0011661	DOID:0110889|UMLS:C1853438|https://omim.org/entry/606348|http://identifiers.org/mesh/C565234	
MONDO:0035694	biolink:Disease	combined immunodeficiency due to RELA haploinsufficiency		Orphanet:596759	mondo.json	CID due to RELA haploinsufficiency	http://purl.obolibrary.org/obo/MONDO_0035694	Orphanet:596759	ordo_disorder
MONDO:0008020	biolink:Disease	multiple exostoses with spastic tetraparesis		MESH:C563566|OMIM:158345|UMLS:C1834724|GARD:0000291	mondo.json	spasticity multiple exostoses|multiple exostoses with spastic tetraparesis|Hamann Zanki schimrigk syndrome	http://purl.obolibrary.org/obo/MONDO_0008020	https://omim.org/entry/158345|http://identifiers.org/mesh/C563566|UMLS:C1834724	
MONDO:0008021	biolink:Disease	Cowden syndrome 1	Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene.	Orphanet:2969|Orphanet:65285|UMLS:CN072330|OMIM:158350|UMLS:C0391826	mondo.json	Proteus-like syndrome|Lhermitte-Duclos disease|Lhermitte-Duclos syndrome|Cowden syndrome type 1|PTEN Cowden disease|cerebelloparenchymal disorder 6|Cowden syndrome 1|dysplastic gangliocytoma of the cerebellum|multiple hamartoma syndrome|Cowden disease caused by mutation in PTEN|CS|cerebellar granule cell Hypertrophy and megalencephaly|CWS1	http://purl.obolibrary.org/obo/MONDO_0008021	UMLS:CN072330|https://omim.org/entry/158350	
MONDO:0011660	biolink:Disease	autosomal dominant nonsyndromic hearing loss 22	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.	OMIM:606346|DOID:0110552|GARD:0009167|MESH:C538197|Orphanet:228012	mondo.json	MYO6 autosomal dominant nonsyndromic deafness|DFNA 22|autosomal dominant nonsyndromic deafness type 22|autosomal dominant nonsyndromic deafness 22|deafness, autosomal dominant 22|DFNA22|deafness, autosomal dominant type 22|deafness, autosomal dominant 22, with hypertrophic cardiomyopathy|deafness, autosomal dominant nonsyndromic sensorineural 22|autosomal dominant nonsyndromic deafness caused by mutation in MYO6|autosomal dominant deafness 22	http://purl.obolibrary.org/obo/MONDO_0011660	DOID:0110552|http://identifiers.org/mesh/C538197|https://omim.org/entry/606346	
MONDO:0011663	biolink:Disease	juvenile primary lateral sclerosis	Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.	SCTID:717964007|GARD:0004485|UMLS:C1853396|OMIM:606353|Orphanet:247604|MESH:C536416	mondo.json	JPLS|juvenile PLS|primary lateral sclerosis, juvenile|Pls, juvenile|PLS juvenile|PLSJ	http://purl.obolibrary.org/obo/MONDO_0011663	http://identifiers.org/mesh/C536416|UMLS:C1853396|http://identifiers.org/snomedct/717964007|Orphanet:247604|https://omim.org/entry/606353	gard_rare|ordo_disease
MONDO:0011662	biolink:Disease	pathological gambling	A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity.	ICD9:312.31|SCTID:18085000|OMIM:606349|EFO:1001926|NCIT:C94335|DOID:12399|ICD10CM:F63.0|MESH:D005715	mondo.json	compulsive gambling|pathological gambling|gambling, pathologic	http://purl.obolibrary.org/obo/MONDO_0011662	DOID:12399|http://purl.bioontology.org/ontology/ICD10CM/F63.0|http://identifiers.org/mesh/D005715|http://identifiers.org/snomedct/18085000|https://omim.org/entry/606349|NCIT:C94335	
MONDO:0011665	biolink:Disease	obsolete Lennox-Gastaut syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0011665		
MONDO:0011664	biolink:Disease	immunodeficiency due to CD25 deficiency		MESH:C565232|OMIM:606367|Orphanet:169100|UMLS:C1853392	mondo.json	IMD41|IL2RA deficiency|Interleukin 2 receptor, alpha, deficiency of|immunodeficiency 41 with lymphoproliferation and autoimmunity|immunodeficiency due to CD25 deficiency|Interleukin-2 receptor alpha chain deficiency|CD25 deficiency	http://purl.obolibrary.org/obo/MONDO_0011664	http://identifiers.org/mesh/C565232|Orphanet:169100|UMLS:C1853392|https://omim.org/entry/606367	ordo_disease
MONDO:0011667	biolink:Disease	maturity-onset diabetes of the young type 4	Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes.	OMIM:606392|MESH:C563451|DOID:0111103|GARD:0010659|SCTID:609571007|NCIT:C129746	mondo.json	MODY4|MODY, type 4|PDX1-associated monogenic diabetes|MODY insulin promoter factor-1 related|PDX1 maturity-onset diabetes of the young (disease)|maturity-onset diabetes of the young (disease) caused by mutation in PDX1|maturity onset diabetes of the Young, type 4|MODY type 4|MODY, type IV|type 4 maturity-onset diabetes of the young|maturity-onset diabetes of the young, type 4|diabetes mellitus MODY type 4	http://purl.obolibrary.org/obo/MONDO_0011667	NCIT:C129746|DOID:0111103|http://identifiers.org/mesh/C563451|http://identifiers.org/snomedct/609571007|https://omim.org/entry/606392	gard_rare
MONDO:0011666	biolink:Disease	obsolete maturity-onset diabetes of the young			mondo.json		http://purl.obolibrary.org/obo/MONDO_0011666		
MONDO:0035696	biolink:Disease	incomplete septal cirrhosis	A histopathological form of portosinusoidal vascular disease characterized by the presence of incomplete, thin, perforated, or blind-ended septa, which intermittently delimit rudimentary nodules, although complete cirrhotic-type regenerative nodules are not seen. Isolated collagen bundles can also be observed within the parenchyma.	ICD10CM:K74.6|Orphanet:596941	mondo.json	Incomplete septal fibrosis	http://purl.obolibrary.org/obo/MONDO_0035696	Orphanet:596941	ordo_subtype_of_a_disorder
NCBITaxon:815	biolink:OrganismalEntity	Bacteroidaceae		GC_ID:11|PMID:8300528	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_815		
MONDO:0021053	biolink:Disease	carotid body paraganglioma	A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to or in the bifurcation of the common carotid artery. Most patients present with a slow growing, painless mass in the neck.	ICDO:8692/1|GARD:0010598|UMLS:C0007279|NCIT:C2932	mondo.json	tumor of carotid body|tumor of the carotid body|carotid body chemodectoma|paraganglioma of carotid body|chemodectoma|carotid body tumor|carotid body paraganglioma|chemodectoma, undetermined|paraganglioma of the carotid body	http://purl.obolibrary.org/obo/MONDO_0021053	NCIT:C2932|UMLS:C0007279	
MONDO:0021052	biolink:Disease	parasympathetic paraganglioma	A benign or malignant, usually non-functioning, extra-adrenal paraganglioma that arises from paraganglia located along the parasympathetic nerves. Representative examples include aorticopulmonary, carotid body, jugulotympanic, and mediastinal paragangliomas.	ICDO:8682/1|UMLS:C0334416|NCIT:C4217	mondo.json	paraganglioma of parasympathetic nervous system|parasympathetic Extra-adrenal paraganglioma|parasympathetic nervous system paraganglioma|parasympathetic paraganglioma|parasympathetic Paraganglionic neoplasm	http://purl.obolibrary.org/obo/MONDO_0021052	NCIT:C4217|UMLS:C0334416	
NCBITaxon:813	biolink:OrganismalEntity	Chlamydia trachomatis		PMID:10192388|PMID:8102247|PMID:10319462|PMID:8347519|GC_ID:11	mondo.json	Rickettsia trachomatis|Chlamydozoon trachomatis|Rickettsia trachomae	http://purl.obolibrary.org/obo/NCBITaxon_813		
MONDO:0021051	biolink:Disease	obsolete hemophagocytic syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021051		
MONDO:0021050	biolink:Disease	vaginal neoplasm	A benign or malignant neoplasm affecting the vagina. Representative examples of benign neoplasms include squamous papilloma and melanocytic nevus. Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma.	EFO:1001447|SCTID:126921000|ICD9:239.5|NCIT:C3437|ONCOTREE:VULVA	mondo.json	tumor of vagina|neoplasm of the vagina|vagina neoplasm (disease)|vaginal tumor|vaginal neoplasm|neoplasm of vagina|vagina tumor|tumor of the vagina|vagina neoplasm	http://purl.obolibrary.org/obo/MONDO_0021050	http://identifiers.org/snomedct/126921000|NCIT:C3437	
NCBITaxon:816	biolink:OrganismalEntity	Bacteroides		GC_ID:11	mondo.json	Ristella|Capsularis	http://purl.obolibrary.org/obo/NCBITaxon_816		
HP:0002617	biolink:PhenotypicFeature	Vascular dilatation	Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.	SNOMEDCT_US:85659009|MSH:D000783|UMLS:C0002940|UMLS:C4020848|SNOMEDCT_US:432119003|Fyler:2399	mondo.json	Aneurysms|Wider than typical opening or gap|Aneurysm|Aneurysmal dilatation|Aneurysmal disease	http://purl.obolibrary.org/obo/HP_0002617		
MONDO:0021059	biolink:Disease	obsolete head or neck disorder/disorder	OBSOLETE. Any disease or disorder affecting the head and/or neck region.	UMLS:C1333941|NCIT:C27571	mondo.json	head and neck disorder|craniocervical region disease|disease or disorder of craniocervical region|head or neck disorder|disease of craniocervical region|craniocervical region disease or disorder|disorder of craniocervical region	http://purl.obolibrary.org/obo/MONDO_0021059	UMLS:C1333941|NCIT:C27571	
HP:0002615	biolink:PhenotypicFeature	Hypotension	Low Blood Pressure, vascular hypotension.	SNOMEDCT_US:45007003|MSH:D007022|UMLS:C0020649	mondo.json	Low blood pressure|Arterial hypotension	http://purl.obolibrary.org/obo/HP_0002615		
MONDO:0021058	biolink:Disease	neoplastic syndrome	A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired.	NCIT:C54705	mondo.json	neoplastic syndrome|cancer-related syndrome|tumor syndrome	http://purl.obolibrary.org/obo/MONDO_0021058	NCIT:C54705	
MONDO:0008079	biolink:Disease	neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome		OMIM:162240|MESH:C563522|GARD:0010543|UMLS:C1834232	mondo.json	neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome|duodenal carcinoid syndrome|Npdc syndrome	http://purl.obolibrary.org/obo/MONDO_0008079	https://omim.org/entry/162240|http://identifiers.org/mesh/C563522|UMLS:C1834232	
MONDO:0021057	biolink:Disease	classic or attenuated familial adenomatous polyposis	An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP.		mondo.json	classic or attenuated familial adenomatous polyposis|classic or attenuated FAP	http://purl.obolibrary.org/obo/MONDO_0021057		
MONDO:0021056	biolink:Disease	familial adenomatous polyposis 1	Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene.	OMIM:175100|UMLS:C0017097|Orphanet:79665|Orphanet:99818|Orphanet:247806|DOID:0080409	mondo.json	Gardner syndrome|familial adenomatous polyposis, attenuated|APC attenuated familial adenomatous polyposis|familial adenomatous polyposis 1|polyposis, adenomatous intestinal|attenuated familial adenomatous polyposis caused by mutation in APC|FAP1|adenomatous polyposis coli|adenoma, periampullary, somatic|brain tumor-polyposis syndrome 2|adenomatous polyposis coli, attenuated|familial polyposis of the colon|adenomatous polyposis of the colon	http://purl.obolibrary.org/obo/MONDO_0021056	DOID:0080409|https://omim.org/entry/175100	
NCBITaxon:810	biolink:OrganismalEntity	Chlamydia		PMID:9103632|PMID:10319462|PMID:25618261|PMID:11211265|PMID:21048222|PMID:21048221|PMID:9103637|PMID:23620152|GC_ID:11	mondo.json	Chlamydophila|Rickettsiaformis|Miyagawanella|Rakeia|"Prowazekia" Coles 1953|Bedsonia	http://purl.obolibrary.org/obo/NCBITaxon_810		
MONDO:0021055	biolink:Disease	classic familial adenomatous polyposis	Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life.	GARD:0006408|DOID:0050424|ICDO:8220/0|OMIMPS:175100|NCIT:C3339|SCTID:72900001|MedDRA:10056981|Orphanet:733|DECIPHER:49|UMLS:C0032580|UMLS:CN240755	mondo.json	familial polyposis coli|classic FAP|FPC|familial polyposis|familial adenomatous polyposis syndrome|hereditary polyposis coli|FAP|hereditary adenomatous polyposis coli|familial adenomatous polyposis|adenomatous polyposis of the colon|classic familial adenomatous polyposis|colorectal adenomatous polyposis|familial adenomatous polyposis of the colon|familial adenomatous polyposis coli|adenomatous polyposis coli|polyposis coli|APC - adenomatous polyposis coli|familial multiple polyposis	http://purl.obolibrary.org/obo/MONDO_0021055	http://identifiers.org/snomedct/72900001|NCIT:C3339|UMLS:C0032580|DOID:0050424|https://omim.org/phenotypicSeries/PS175100|Orphanet:733|UMLS:CN240755	ordo_disease
MONDO:0008077	biolink:Disease	obsolete neurofibromatosis, type 1		UMLS:C0027831	mondo.json		http://purl.obolibrary.org/obo/MONDO_0008077		
MONDO:0021054	biolink:Disease	bone sarcoma	A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma.	Orphanet:223727|SCTID:448710000|ICD9:170.9|MedDRA:10006007|NCIT:C9312|UMLS:C1704327|DOID:0080639	mondo.json	sarcoma of bone|sarcoma of the bone|bone sarcoma|skeletal sarcoma|osseous sarcoma	http://purl.obolibrary.org/obo/MONDO_0021054	http://identifiers.org/snomedct/448710000|NCIT:C9312|DOID:0080639|UMLS:C1704327|Orphanet:223727	disease_grouping|ordo_group_of_disorders
HP:0002619	biolink:PhenotypicFeature	Varicose veins	Enlarged and tortuous veins.	MSH:D014648|SNOMEDCT_US:12856003|SNOMEDCT_US:128060009|UMLS:C0042345|SNOMEDCT_US:399989005	mondo.json		http://purl.obolibrary.org/obo/HP_0002619		
MONDO:0008078	biolink:Disease	neurofibromatosis, familial spinal		OMIM:162210|MESH:C563523|UMLS:C1834235	mondo.json	Fsnf|neurofibromatosis, familial spinal	http://purl.obolibrary.org/obo/MONDO_0008078	http://identifiers.org/mesh/C563523|UMLS:C1834235|https://omim.org/entry/162210	
NCBITaxon:27458	biolink:OrganismalEntity	Chrysops		GC_ID:1	mondo.json	deer flies	http://purl.obolibrary.org/obo/NCBITaxon_27458		
MONDO:0008075	biolink:Disease	schwannomatosis	The least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.	OMIMPS:162091|NCIT:C6557|ICD9:237.73|ICDO:9560/1|UMLS:C1335929|GARD:0004768|Orphanet:93921|DOID:3204	mondo.json	neurilemmomatosis|Schwannomatosis|neurilemmomatosis, congenital cutaneous|neurilemmomatosis congenital cutaneous|neurofibromatosis type 3|schwannomatosis|neurinoma|Neurinomatosis|NF3|congenital cutaneous neurilemmomatosis	http://purl.obolibrary.org/obo/MONDO_0008075	NCIT:C6557|Orphanet:93921|UMLS:C1335929|https://omim.org/phenotypicSeries/PS162091|DOID:3204	ordo_disease
MONDO:0008076	biolink:Disease	amyotrophic neuralgia	An autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.	ICD9:353.5|SCTID:26609002|DOID:10383|MESH:D020968|GARD:0003955|OMIM:162100	mondo.json	brachial plexus neuropathy, hereditary|hereditary brachial plexus neuropathy|neuritis with brachial predilection|neuralgic amyotrophy|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|HNA|hereditary neuralgic amyotrophy|amyotrophy, hereditary neuralgic	http://purl.obolibrary.org/obo/MONDO_0008076	http://identifiers.org/snomedct/26609002|DOID:10383|https://omim.org/entry/162100	
MONDO:0008073	biolink:Disease	familial juvenile hyperuricemic nephropathy type 1	A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age.	GARD:0006806|UMLS:CN206322|OMIM:609886|Orphanet:88950|Orphanet:34149|Orphanet:209886|UMLS:CN239214|GARD:0010679|UMLS:C4054550|EFO:0008618|SCTID:445503007|UMLS:C1835934|MESH:C563693|OMIM:162000|NCIT:C123172|OMIM:603860	mondo.json	medullary cystic kidney disease 2, autosomal dominant|HNFJ1|medullary cystic kidney disease type II|medullary cystic kidney disease type 2|UMOD-related autosomal dominant tubulointerstitial kidney disease|hyperuricemic nephropathy, familial juvenile|autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD|familial juvenile hyperuricemic nephropathy caused by mutation in UMOD|uromodulin-associated kidney disease|UMOD-associated FJHN|hyperuricemic nephropathy, familial juvenile, type 1|UMOD-related ADTKD|MCKD2|UMOD familial juvenile hyperuricemic nephropathy|UMOD-associated familial juvenile hyperuricemic nephropathy|UMOD-related kidney disease|tubulointerstitial kidney disease, autosomal dominant, 1|FJHN type 1|uromodulin storage disease|autosomal dominant medullary cystic kidney disease type 2|medullary cystic kidney disease 2|glomerulocystic kidney disease with hyperuricemia and isosthenuria|familial juvenile gouty nephropathy|autosomal dominant medullary cystic kidney disease with hyperuricemia|familial nephropathy with gout|hyperuricemic nephropathy, familial juvenile, 1|ADMCKD2|ADTKD-UMOD|nephropathy, familial, with gout|familial juvenile hyperuricaemic nephropathy|gouty nephropathy, familial juvenile	http://purl.obolibrary.org/obo/MONDO_0008073	UMLS:C4054550|http://identifiers.org/mesh/C563693|NCIT:C123172|UMLS:C1835934|UMLS:CN239214|Orphanet:88950|http://identifiers.org/snomedct/445503007|https://omim.org/entry/162000|UMLS:CN206322	ordo_clinical_subtype|ordo_disease|gard_rare|prototype_pattern
MONDO:0008074	biolink:Disease	obsolete nerve growth factor, alpha subunit		OMIM:162020	mondo.json	nerve growth factor, ALPHA SUBUNIT|NGFA|nerve growth factor, alpha subunit	http://purl.obolibrary.org/obo/MONDO_0008074	https://omim.org/entry/162020	
MONDO:0008071	biolink:Disease	autosomal dominant progressive nephropathy with hypertension		MESH:C562889|UMLS:C3839782|UMLS:C0403443|ICD9:583.9|OMIM:161900|SCTID:703310005|Orphanet:88659	mondo.json	nephropathy-hypertension|renal failure, progressive, with hypertension|renal failure, adult-onset|RFH1|nephropathy, familial|nephritis, familial, without deafness or ocular defect	http://purl.obolibrary.org/obo/MONDO_0008071	http://identifiers.org/snomedct/703310005|https://omim.org/entry/161900|http://identifiers.org/mesh/C562889|Orphanet:88659|UMLS:C0403443|UMLS:C3839782	ordo_disease
MONDO:0008072	biolink:Disease	IgA nephropathy, susceptibility to, 1		OMIM:161950|GARD:0000863	mondo.json	Igan|IgA nephropathy, susceptibility to, 1|glomerulonephritis, IgA|nephritis, IgA type|berger disease|IGAN1	http://purl.obolibrary.org/obo/MONDO_0008072	https://omim.org/entry/161950	predisposition
MONDO:0008070	biolink:Disease	nemaline myopathy 3	An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles.	OMIM:161800|MESH:C580202|DOID:0110927|SCTID:702349003|NCIT:C129870|Orphanet:98904|UMLS:CN187050	mondo.json	NEM3|nemaline myopathy 3, autosomal dominant or recessive|myopathy, actin, congenital, with cores|ACTA1 nemaline myopathy|myopathy, actin, congenital, with Excess of thin myofilaments|nemaline myopathy type 3|nemaline myopathy 3|nemaline myopathy caused by mutation in ACTA1|nemaline myopathy 3, with intranuclear rods	http://purl.obolibrary.org/obo/MONDO_0008070	DOID:0110927|https://omim.org/entry/161800|UMLS:CN187050|NCIT:C129870|http://identifiers.org/snomedct/702349003|http://identifiers.org/mesh/C580202	
GO:1904081	biolink:NamedThing	positive regulation of transcription from RNA polymerase II promoter involved in neuron differentiation	Any positive regulation of transcription from RNA polymerase II promoter that is involved in neuron differentiation.		mondo.json	up regulation of global transcription from RNA polymerase II promoter involved in neuron differentiation|stimulation of global transcription from RNA polymerase II promoter involved in neuron differentiation|activation of transcription from RNA polymerase II promoter involved in neuron differentiation|upregulation of transcription from RNA polymerase II promoter involved in neuron differentiation|positive regulation of transcription from RNA polymerase II promoter, global involved in neuron differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in neuron differentiation|positive regulation of global transcription from Pol II promoter involved in neuron differentiation|upregulation of global transcription from RNA polymerase II promoter involved in neuron differentiation|activation of global transcription from RNA polymerase II promoter involved in neuron differentiation|positive regulation of transcription from Pol II promoter involved in neuron differentiation|up regulation of transcription from RNA polymerase II promoter involved in neuron differentiation|up-regulation of transcription from RNA polymerase II promoter involved in neuron differentiation|up-regulation of global transcription from RNA polymerase II promoter involved in neuron differentiation|stimulation of transcription from RNA polymerase II promoter involved in neuron differentiation	http://purl.obolibrary.org/obo/GO_1904081		
FOODON:00001714	biolink:NamedThing	food product component	A food product which normally exists as an ingredient to another food product, rather than eaten on its own, and is more complex than a chemical food component.		mondo.json		http://purl.obolibrary.org/obo/FOODON_00001714		
NCBITaxon:809	biolink:OrganismalEntity	Chlamydiaceae		PMID:11211261|GC_ID:11|PMID:10319462|PMID:25618261|PMID:10319506|PMID:11211265	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_809		
MONDO:0021042	biolink:Disease	glioma	A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas.	NCIT:C3059|MESH:D005910|Orphanet:182067|UMLS:C0017638|GARD:0006513|SCTID:393564001	mondo.json	tumor of neuroglia|glioma|glial tumor|neoplasm of the neuroglia|neoplasm of neuroglia|glial neoplasm|neuroglial neoplasm|neuroglial tumor|tumor of the neuroglia	http://purl.obolibrary.org/obo/MONDO_0021042	NCIT:C3059|UMLS:C0017638|http://identifiers.org/mesh/D005910|Orphanet:182067|http://identifiers.org/snomedct/393564001	
MONDO:0021041	biolink:Disease	pleural solitary fibrous tumor	A localized neoplasm of probable fibroblastic derivation, that arises from the pleura. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen.	NCIT:C4457|UMLS:C0334511|EFO:1000835|SCTID:254646001	mondo.json	pleural cavity solitary fibrous tumor|solitary fibrous tumor of pleura|solitary fibrous tumor of the pleura|pleura solitary fibrous tumor|localized fibrous mesothelioma of pleura|localized fibrous mesothelioma of the pleura|pleural solitary fibrous tumor|fibroma of pleura|pleural Submesothelial fibroma|fibroma of the pleura|pleural fibroma	http://purl.obolibrary.org/obo/MONDO_0021041	NCIT:C4457|http://identifiers.org/snomedct/254646001	
MONDO:0021040	biolink:Disease	pancreatic neoplasm	A benign or malignant neoplasm involving the pancreas.	ONCOTREE:PANCREAS|SCTID:126859007|EFO:0003860|NCIT:C3305|MESH:D010190	mondo.json	tumor of the pancreas|pancreatic neoplasm|pancreas neoplasm (disease)|tumor of pancreas|pancreas neoplasm|neoplasm of the pancreas|pancreas|pancreatic tumor|neoplasm of pancreas|pancreas tumor	http://purl.obolibrary.org/obo/MONDO_0021040	NCIT:C3305|http://identifiers.org/snomedct/126859007|http://identifiers.org/mesh/D010190	
MONDO:0021049	biolink:Disease	vulvar neoplasm	A benign or malignant neoplasm that affects the vulva. Representative examples include Bartholin gland adenoma, vulvar nodular hidradenoma, vulvar carcinoma, and vulvar melanoma.	ICD9:239.5|NCIT:C3443|SCTID:126922007	mondo.json	tumor of the vulva|tumor of vulva|tumor of mammalian vulva|vulva neoplasm|mammalian vulva neoplasm|vulvar neoplasm|neoplasm of the vulva|vulvar tumor|neoplasm of vulva|neoplasm of mammalian vulva|mammalian vulva neoplasm (disease)|vulva tumor|mammalian vulva tumor|vulval neoplasm	http://purl.obolibrary.org/obo/MONDO_0021049	NCIT:C3443|http://identifiers.org/snomedct/126922007	
MONDO:0021048	biolink:Disease	benign mastocytoma	A localized mast cell neoplasm without metastatic potential.	DOID:4658|UMLS:C2242987|NCIT:C3217	mondo.json	MAST cell tumor, benign|benign mastocytoma|mastocytoma, benign	http://purl.obolibrary.org/obo/MONDO_0021048	NCIT:C3217|UMLS:C2242987|DOID:4658	
MONDO:0021047	biolink:Disease	breast phyllodes tumor	A benign, malignant, or borderline circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a spindle cell mesenchymal (stromal) component.	SCTID:712989008|NCIT:C7575|ONCOTREE:PT|GARD:0009514	mondo.json	phyllodes tumor of breast|phyllodes neoplasm of breast|phyllodes tumor of the breast|phyllodes neoplasm of the breast|phyllodes breast tumor|breast phyllodes tumor|breast phyllodes neoplasm|cystosarcoma phyllodes of breast|cystosarcoma phylloides - breast|cystosarcoma phyllodes of the breast|breast cystosarcoma phyllodes|cystosarcoma phylloides of the breast|phyllodes breast neoplasm	http://purl.obolibrary.org/obo/MONDO_0021047	http://identifiers.org/snomedct/712989008|NCIT:C7575	
HGNC:12858	biolink:NamedThing	ZAP70			mondo.json		http://identifiers.org/hgnc/12858		
MONDO:0021046	biolink:Disease	breast fibroepithelial neoplasm	A benign or malignant biphasic neoplasm that arises from the breast parenchyma. It is characterized by the presence of an epithelial and a mesenchymal (stromal) component. The typical examples are fibroadenoma and phyllodes tumor.	UMLS:C1511309|ONCOTREE:BFN|NCIT:C40405	mondo.json	BFN|breast fibroepithelial neoplasm|breast fibroepithelial neoplasms|breast fibroepithelial tumor	http://purl.obolibrary.org/obo/MONDO_0021046	NCIT:C40405|UMLS:C1511309	
MONDO:0021045	biolink:Disease	fibroepithelial neoplasm	A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor.	UMLS:C0206649|MESH:D018225|NCIT:C3743|EFO:0007271	mondo.json	fibroepithelial neoplasm|fibroepithelial tumor	http://purl.obolibrary.org/obo/MONDO_0021045	NCIT:C3743|UMLS:C0206649|http://identifiers.org/mesh/D018225	
NCBITaxon:40411	biolink:OrganismalEntity	Chrysosporium		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_40411		
MONDO:0021044	biolink:Disease	obsolete Wilms tumor	OBSOLETE. An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0021044		
MONDO:0008088	biolink:Disease	neuropathy, with paraprotein in serum, cerebrospinal fluid and urine		OMIM:162600|MESH:C563516|UMLS:C1834180	mondo.json	neuropathy, with paraprotein in serum, cerebrospinal fluid and urine	http://purl.obolibrary.org/obo/MONDO_0008088	http://identifiers.org/mesh/C563516|UMLS:C1834180|https://omim.org/entry/162600	
MONDO:0008089	biolink:Disease	neutropenia, chronic familial		OMIM:162700|SCTID:234576008|ICD9:288.09|MESH:C535815|UMLS:C3665676|GARD:0003983	mondo.json	neutropenia, chronic familial|leukopenia benign familial|neutropenia chronic familial|chronic familial neutropenia|leukopenia, benign familial	http://purl.obolibrary.org/obo/MONDO_0008089	https://omim.org/entry/162700|http://identifiers.org/mesh/C535815|UMLS:C3665676|http://identifiers.org/snomedct/234576008	gard_rare
MONDO:0021043	biolink:Disease	mixed neoplasm	A neoplasm composed of at least two distinct cellular populations.	MESH:D018193|NCIT:C6930|ICDO:8940/1	mondo.json	mixed neoplasm|mixed tumor	http://purl.obolibrary.org/obo/MONDO_0021043	http://identifiers.org/mesh/D018193|NCIT:C6930	
MONDO:0008086	biolink:Disease	neuropathy, hereditary sensory and autonomic, type 1A	An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1.	DOID:0070152|OMIM:162400|GARD:0004798	mondo.json	HSN 1A|neuropathy, hereditary sensory, type 1A|HSAN 1A|HSAN1A|hereditary sensory and autonomic neuropathy type 1A|hereditary sensory and autonomic neuropathy type 1 caused by mutation in SPTLC1|hereditary sensory and autonomic neuropathy type IA|SPTLC1 hereditary sensory and autonomic neuropathy type 1|neuropathy, hereditary sensory and autonomic, type IA|neuropathy, hereditary sensory radicular, autosomal dominant, type 1A	http://purl.obolibrary.org/obo/MONDO_0008086	DOID:0070152|https://omim.org/entry/162400	
MONDO:0008087	biolink:Disease	hereditary neuropathy with liability to pressure palsies	Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.	GARD:0005221|MedDRA:10069382|Orphanet:640|DECIPHER:31|DOID:0060843|OMIM:162500|MESH:C536965|SCTID:230558006	mondo.json	polyneuropathy, familial recurrent|neuropathy, recurrent, with pressure palsies|current pressure-sensitive neuropathy|familial recurrent polyneuropathy|heterozygous microdeletion 17p11.2p12|HNPP|hereditary liability to pressure palsies|potato-grubbing palsy|Tomaculous neuropathy|tulip-bulb digger's palsy|tomaculous neuropathy|neuropathy, hereditary, with liability to pressure palsies|hereditary neuropathy with liability to pressure palsy|hereditary neuropathy with liability to pressure palsies	http://purl.obolibrary.org/obo/MONDO_0008087	DOID:0060843|Orphanet:640|http://identifiers.org/snomedct/230558006|http://identifiers.org/mesh/C536965|https://omim.org/entry/162500	ordo_malformation_syndrome
OBO:ECTO_3000005	biolink:NamedThing	exposure to humans	A history of exposure to Homo sapiens.		mondo.json	Homo sapiens exposure	http://purl.obolibrary.org/obo/ECTO_3000005		
MONDO:0008084	biolink:Disease	neuropathy, congenital, with arthrogryposis multiplex		UMLS:C1834206|MESH:C535714|OMIM:162370|GARD:0010086	mondo.json	neuropathy, congenital, with arthrogryposis multiplex|congenital non-progressive peripheral neuropathy with arthrogryposis multiplex	http://purl.obolibrary.org/obo/MONDO_0008084	UMLS:C1834206|https://omim.org/entry/162370|http://identifiers.org/mesh/C535714	gard_rare
GO:1904099	biolink:NamedThing	negative regulation of protein O-linked glycosylation	Any process that stops, prevents or reduces the frequency, rate or extent of protein O-linked glycosylation.		mondo.json	inhibition of protein O-linked glycosylation|down-regulation of protein O-linked glycosylation|down-regulation of protein amino acid O-linked glycosylation|negative regulation of protein amino acid O-linked glycosylation|down regulation of protein amino acid O-linked glycosylation|downregulation of protein O-linked glycosylation|downregulation of protein amino acid O-linked glycosylation|inhibition of protein amino acid O-linked glycosylation|down regulation of protein O-linked glycosylation	http://purl.obolibrary.org/obo/GO_1904099		
MONDO:0008085	biolink:Disease	obsolete neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance		MESH:C563517|UMLS:C1834205|OMIM:162380	mondo.json	neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance	http://purl.obolibrary.org/obo/MONDO_0008085	http://identifiers.org/mesh/C563517|UMLS:C1834205|https://omim.org/entry/162380	
GO:1904098	biolink:NamedThing	regulation of protein O-linked glycosylation	Any process that modulates the frequency, rate or extent of protein O-linked glycosylation.		mondo.json	regulation of protein amino acid O-linked glycosylation	http://purl.obolibrary.org/obo/GO_1904098		
MONDO:0008082	biolink:Disease	multiple endocrine neoplasia type 2B	Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal ganglioneuroma, and marfanoid habitus.	OMIM:162300|UMLS:C0025269|ICD9:237.4|MESH:D018814|GARD:0010225|SCTID:61530001|NCIT:C3227|MedDRA:10056420|Orphanet:247709|ICD9:258.03|DOID:10016	mondo.json	mucosal neuroma syndrome|mucosal Neuroma syndrome|multiple endocrine neoplasia type 3|multiple endocrine neoplasia type IIB|men type IIB|multiple endocrine neoplasia, type 2B|multiple endocrine neoplasia, type IIB|multiple endocrine neoplasia IIB|multiple endocrine neoplasia, type III, formerly|multiple endocrine adenomatosis type IIB|Neuromata, mucosal, with endocrine tumors|multiple endocrine neoplasia type 2B|men type 2B|MEN2B|men 2B|Wagenmann-Froboese syndrome|multiple endocrine neoplasia type III|men IIB|multiple endocrine neoplasia, type 3 (formerly)|multiple endocrine neoplasia, type III|multiple endocrine neoplasia, type 3	http://purl.obolibrary.org/obo/MONDO_0008082	DOID:10016|Orphanet:247709|http://identifiers.org/mesh/D018814|http://identifiers.org/snomedct/61530001|NCIT:C3227|UMLS:C0025269|https://omim.org/entry/162300	ordo_clinical_subtype|gard_rare
MONDO:0008083	biolink:Disease	ceroid lipofuscinosis, neuronal, 4 (Kufs type)	A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.	UMLS:C4284284|Orphanet:228343|NCIT:C128116|OMIM:162350|UMLS:C1834207|GARD:0001222|DOID:0110720	mondo.json	autosomal dominant Kufs disease|neuronal ceroid lipofuscinosis type 4B|Kuf's disease, autosomal dominant|neuronal ceroid lipofuscinosis, parry type|CLN4|Kuf's disease type B|ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant|ceroid lipofuscinosis, neuronal, 4 (Kufs type)|autosomal dominant neuronal ceroid lipofuscinosis 4B|ceroid lipofuscinosis, neuronal, parry type|adult neuronal ceroid lipofuscinosis 4B|CLN4B disease|CLN4B|Kufs disease, autosomal dominant|ceroid lipofuscinosis, neuronal, 4B, autosomal dominant|neuronal ceroid lipofuscinosis 4 parry type|neuronal ceroid lipofuscinosis 4B	http://purl.obolibrary.org/obo/MONDO_0008083	UMLS:C1834207|Orphanet:228343|NCIT:C128116|UMLS:C4284284|https://omim.org/entry/162350|DOID:0110720	ordo_etiological_subtype
HP:0002624	biolink:PhenotypicFeature	Abnormal venous morphology	An anomaly of vein.	UMLS:C0241665	mondo.json	Abnormal vein|Venous abnormality	http://purl.obolibrary.org/obo/HP_0002624		
MONDO:0008080	biolink:Disease	neurofibromatosis, type III, mixed central and peripheral		SCTID:254240003|OMIM:162260|MESH:C537389	mondo.json	neurofibromatosis, type III, of Riccardi|neurofibromas, palmar cutaneous|neurofibromatosis, type III, mixed central and peripheral|Nf 3|NF3A|neurofibromatosis, type III, Riccardi type	http://purl.obolibrary.org/obo/MONDO_0008080	http://identifiers.org/mesh/C537389|https://omim.org/entry/162260|http://identifiers.org/snomedct/254240003	
NCBITaxon:242060	biolink:OrganismalEntity	Cystoisospora		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_242060		
MONDO:0008081	biolink:Disease	neurofibromatosis, type IV, of Riccardi		MESH:C537392|OMIM:162270	mondo.json	neurofibromatosis, atypical|neurofibromatosis, type IV, of RICCARDI|type IV neurofibromatosis of Riccardi|neurofibromatosis, type IV, of Riccardi|NF4|Nf 4|neurofibromatosis type 4|neurofibromatosis type IV|neurofibromatosis, variant form(S) of	http://purl.obolibrary.org/obo/MONDO_0008081	http://identifiers.org/mesh/C537392|https://omim.org/entry/162270	
MONDO:0035635	biolink:Disease	obsolete short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0035635		
MONDO:0023696	biolink:Disease	Marinesco-Sjogren-like syndrome	A disease with similar features to Marinesco-Sjogren syndrome.	OMIM:248810|MESH:C535913|UMLS:C0796036|GARD:0008745	mondo.json	Marinesco-Sjogren-like syndrome (MSLS)|juvenile cataract, cerebellar atrophy, intellectual disability, and myopathy|juvenile cataract, cerebellar atrophy, mental retardation, and myopathy	http://purl.obolibrary.org/obo/MONDO_0023696	UMLS:C0796036|http://identifiers.org/mesh/C535913	gard_rare
MONDO:0023699	biolink:Disease	Maroteaux Fonfria syndrome		GARD:0003397|MESH:C536023|UMLS:C2931088	mondo.json	apparent apert syndrome with polydactyly|apert syndrome with polydactyly of hands and feet	http://purl.obolibrary.org/obo/MONDO_0023699	UMLS:C2931088|http://identifiers.org/mesh/C536023	gard_rare
MONDO:0035639	biolink:Disease	mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)		ICD10CM:C92.7|Orphanet:589534	mondo.json	MPAL with t(9;22)(q34.1;q11.2); BCR-ABL1	http://purl.obolibrary.org/obo/MONDO_0035639	Orphanet:589534	ordo_subtype_of_a_disorder
MONDO:0021039	biolink:Disease	extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor	A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms.	EFO:1000250|UMLS:C1333514|NCIT:C27293|DOID:4985	mondo.json	extraosseous Ewing's tumor|extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor|extraosseous Ewings sarcoma-primitive neuroepithelial tumor|extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor|extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/MONDO_0021039	NCIT:C27293|UMLS:C1333514|DOID:4985	
MONDO:0021038	biolink:Disease	Ewing sarcoma/peripheral primitive neuroectodermal tumor	A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms.	NCIT:C27291|UMLS:C3536893	mondo.json	Ewing sarcoma/peripheral PNET|tumors of Ewing's family|Ewing's family of tumors|tumors of the Ewing's family|Ewing's family of tumours|EFTs|Ewing family of tumors|Ewing sarcoma family of tumors|Ewing's sarcoma/peripheral primitive neuroectodermal tumor|Ewing sarcoma/peripheral primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/MONDO_0021038	NCIT:C27291|UMLS:C3536893	
HGNC:12827	biolink:NamedThing	XPR1			mondo.json		http://identifiers.org/hgnc/12827		
MONDO:0008059	biolink:Disease	Naegeli-Franceschetti-Jadassohn syndrome	Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.	DOID:0111528|UMLS:C0343111|SCTID:239084001|MESH:C538331|Orphanet:69087|OMIM:161000|GARD:0003912	mondo.json	reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy|Naegeli-Franceschetti-Jadassohn syndrome|Nfj syndrome|Naegeli syndrome|NAEGELI-Franceschetti-Jadassohn syndrome|NFJ syndrome|NFJS|NAEGELI syndrome	http://purl.obolibrary.org/obo/MONDO_0008059	UMLS:C0343111|DOID:0111528|https://omim.org/entry/161000|http://identifiers.org/snomedct/239084001|http://identifiers.org/mesh/C538331|Orphanet:69087	ordo_disease
MONDO:0021037	biolink:Disease	obsolete genetic neurodegenerative disease with dementia	OBSOLETE. An instance of neurodegenerative disease with dementia that is caused by a modification of the individual's genome.	UMLS:CN202589|Orphanet:276058	mondo.json	genetic neurodegenerative disease with dementia	http://purl.obolibrary.org/obo/MONDO_0021037	Orphanet:276058|UMLS:CN202589	
MONDO:0021036	biolink:Disease	keratosis pilaris	A form of dry skin characterised by hair follicles plugged by scale.	SCTID:5132005|NCIT:C124070	mondo.json	KP	http://purl.obolibrary.org/obo/MONDO_0021036	http://identifiers.org/snomedct/5132005|NCIT:C124070	
MONDO:0021035	biolink:Disease	alopecia-intellectual disability syndrome 1		UMLS:C1859878|DOID:0080628|OMIM:203650	mondo.json	alopecia-intellectual disability syndrome 1|alopecia-mental retardation syndrome 1|APMR|APMR1	http://purl.obolibrary.org/obo/MONDO_0021035	https://omim.org/entry/203650|UMLS:C1859878|DOID:0080628	
MONDO:0008057	biolink:Disease	Carney complex, type 1	Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene.	OMIM:160980	mondo.json	PRKAR1A Carney complex|Carney complex caused by mutation in PRKAR1A|Carney complex, type 1|myxoma, spotty pigmentation, and endocrine overactivity|Carney Myxoma-endocrine Complex|CNC1|lamb syndrome|name syndrome|Carney syndrome	http://purl.obolibrary.org/obo/MONDO_0008057	https://omim.org/entry/160980	
MONDO:0008058	biolink:Disease	cylindrical spirals myopathy	Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.	SCTID:764525006|DOID:0080103|OMIM:160990|GARD:0011906|Orphanet:171886|UMLS:C1834418|MESH:C563535	mondo.json	myotonic myopathy with cylindrical spirals	http://purl.obolibrary.org/obo/MONDO_0008058	http://identifiers.org/mesh/C563535|https://omim.org/entry/160990|http://identifiers.org/snomedct/764525006|UMLS:C1834418|Orphanet:171886|DOID:0080103	ordo_disease|gard_rare
MONDO:0023691	biolink:Disease	maple syrup urine disease type 1A	A maple syrup urine disease caused by mutations in BCKDHA.	GARD:0008594	mondo.json	maple syrup urine disease type 1A|MSUD type 1A	http://purl.obolibrary.org/obo/MONDO_0023691		gard_rare
MONDO:0021034	biolink:Disease	genetic alopecia	An instance of alopecia that is caused by a modification of the individual's genome.	Orphanet:481771	mondo.json	genetic alopecia	http://purl.obolibrary.org/obo/MONDO_0021034	Orphanet:481771	
OBO:ECTO_3000001	biolink:NamedThing	exposure to virus	A history of exposure to Viruses.		mondo.json	Viruses exposure	http://purl.obolibrary.org/obo/ECTO_3000001		
MONDO:0008055	biolink:Disease	myotonia congenita, autosomal dominant		SCTID:8960007|OMIM:160800|ICD9:359.29|SCTID:57938005	mondo.json	myotonia Levior|Thomsen's disease|Thomsen disease|myotonia congenita, autosomal dominant|Thomsen and Becker disease|congenital myotonia, autosomal dominant form|myotonia congenita, dominant	http://purl.obolibrary.org/obo/MONDO_0008055	http://identifiers.org/snomedct/57938005|https://omim.org/entry/160800	
MONDO:0021033	biolink:Disease	herpes zoster dermatitis	Painful, localized rash caused by reactivation of latent varicella zoster virus residing in nerve cell bodies, with resulting infection of the skin in the region supplied by the affected nerve.	NCIT:C35619	mondo.json	herpes zoster dermatitis	http://purl.obolibrary.org/obo/MONDO_0021033	NCIT:C35619	
MONDO:0023692	biolink:Disease	maple syrup urine disease type 1B	A maple syrup urine disease caused by mutations in BCKDHB.	GARD:0008597	mondo.json	MSUD type IB|maple syrup urine disease type 1B|MSUD due to deficiency of E1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex|MSUD type 3 (formerly)	http://purl.obolibrary.org/obo/MONDO_0023692		gard_rare
OBO:ECTO_3000000	biolink:NamedThing	exposure to organism	A history of exposure to root.		mondo.json	root exposure	http://purl.obolibrary.org/obo/ECTO_3000000		
MONDO:0008056	biolink:Disease	myotonic dystrophy type 1	Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.	OMIM:160900|ICD9:359.21|Orphanet:273|NCIT:C84679|DOID:11722|GARD:0008310	mondo.json	DMPK myotonic dystrophy|MD1|myotonic dystrophy of Steinert|myotonic dystrophy type 1|Steinert myotonic dystrophy|DM1|myotonic dystrophy 1|Steinert disease|Steinert's disease|Steinert myotonic dystrophy syndrome|myotonic dystrophy caused by mutation in DMPK|Steinert syndrome|dystrophia myotonica|dystrophia myotonica type 1|dystrophia myotonica 1	http://purl.obolibrary.org/obo/MONDO_0008056	Orphanet:273|DOID:11722|NCIT:C84679|https://omim.org/entry/160900	ordo_disease
MONDO:0023693	biolink:Disease	maple syrup urine disease type 2	A maple syrup urine disease caused by mutations in DBT.	GARD:0008596|HGNC:2698	mondo.json	MSUD type 2|maple syrup urine disease type 2|MSUD2	http://purl.obolibrary.org/obo/MONDO_0023693		gard_rare
MONDO:0021032	biolink:Disease	herpes zoster with dermatitis of eyelid	A form of herpes zoster infection characterized by dermatitis of the skin of the eyelid due to reactivation of latent virus associated with the ophthalmic branch of the trigeminal nerve.	UMLS:C0019362|NCIT:C34696|SCTID:186525007|ICD9:053.20	mondo.json	Herpes zoster dermatitis of eyelids|herpes zoster with dermatitis of eyelid|Herpes zoster with dermatitis of eyelid|herpes zoster dermatitis of eyelid|Herpes Zoster Dermatitis of Eyelid|herpes zoster dermatitis of eyelids	http://purl.obolibrary.org/obo/MONDO_0021032	http://identifiers.org/snomedct/186525007|NCIT:C34696|UMLS:C0019362	
HGNC:12829	biolink:NamedThing	XRCC2			mondo.json		http://identifiers.org/hgnc/12829		
MONDO:0008053	biolink:Disease	myopia 2, autosomal dominant		OMIM:160700|UMLS:C1834531|MESH:C563541	mondo.json	MYP2|myopia 2, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008053	http://identifiers.org/mesh/C563541|https://omim.org/entry/160700|UMLS:C1834531	
HGNC:12831	biolink:NamedThing	XRCC4			mondo.json		http://identifiers.org/hgnc/12831		
MONDO:0008054	biolink:Disease	juvenile dermatomyositis	Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations.	MESH:C538250|UMLS:C2931785|MedDRA:10008521|MESH:C000598745|Orphanet:93672|OMIM:160750|SCTID:1212005|EFO:0000557|NCIT:C27576|GARD:0006805|DOID:14203	mondo.json	childhood dermatomyositis|myopathy, familial idiopathic inflammatory|myoseptum inflammation|juvenile myositis|inflammation of myoseptum|juvenile DM|childhood type dermatomyositis|myoseptumitis|JPM|juvenile dermatomyositis|myositis|JDM	http://purl.obolibrary.org/obo/MONDO_0008054	DOID:14203|NCIT:C27576|Orphanet:93672|http://identifiers.org/snomedct/1212005	gard_rare|ordo_disease
HGNC:12830	biolink:NamedThing	XRCC3			mondo.json		http://identifiers.org/hgnc/12830		
MONDO:0008051	biolink:Disease	tubular aggregate myopathy	Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported.	GARD:0003884|OMIMPS:160565|Orphanet:2593|DOID:0080089	mondo.json	tubular aggregate myopathy|myopathy, tubular aggregate, type 1|TAM1|myopathy, tubular aggregate, 1	http://purl.obolibrary.org/obo/MONDO_0008051	https://omim.org/phenotypicSeries/PS160565|DOID:0080089|Orphanet:2593	ordo_disease|gard_rare|prototype_pattern
MONDO:0008052	biolink:Disease	myopathy with storage of glycoproteins and Glycosaminoglycans		OMIM:160570|MESH:C563542|UMLS:C1834532	mondo.json	myopathy with storage of glycoproteins and Glycosaminoglycans	http://purl.obolibrary.org/obo/MONDO_0008052	http://identifiers.org/mesh/C563542|https://omim.org/entry/160570|UMLS:C1834532	
MONDO:0008050	biolink:Disease	MYH7-related skeletal myopathy	Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.	DOID:0070197|OMIM:160500|SCTID:764859001|GARD:0010769|Orphanet:59135|UMLS:CN074249	mondo.json	myopathy, late distal hereditary|MYH7-related skeletal myopathy|myosin storage myopathy|Laing distal myopathy|myopathy, distal, 1|Laing early-onset distal myopathy|Gowers disease|MPD1|myopathy, distal, type 1|distal myopathy type 1|myopathy, distal, early-onset, autosomal dominant|myopathy distal, type 1	http://purl.obolibrary.org/obo/MONDO_0008050	http://identifiers.org/snomedct/764859001|https://omim.org/entry/160500|Orphanet:59135|DOID:0070197|UMLS:CN074249	ordo_disease
MONDO:0021029	biolink:Disease	genetic sebaceous gland anomaly	An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome.	Orphanet:183460	mondo.json	genetic sebaceous gland anomaly	http://purl.obolibrary.org/obo/MONDO_0021029	Orphanet:183460	
MONDO:0035647	biolink:Disease	childhood-onset Steinert myotonic dystrophy		Orphanet:589824|ICD10CM:G71.1	mondo.json	Childhood-onset myotonic dystrophy type 1|Childhood-onset Steinert disease	http://purl.obolibrary.org/obo/MONDO_0035647	Orphanet:589824	ordo_subtype_of_a_disorder
MONDO:0035646	biolink:Disease	congenital-onset Steinert myotonic dystrophy		Orphanet:589821|ICD10CM:G71.1	mondo.json	Congenital-onset Steinert disease|Congenital-onset myotonic dystrophy type 1	http://purl.obolibrary.org/obo/MONDO_0035646	Orphanet:589821	ordo_subtype_of_a_disorder
MONDO:0035645	biolink:Disease	inherited gynecological cancer-predisposing syndrome		Orphanet:589746	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035645	Orphanet:589746	ordo_group_of_disorders
GO:0015276	biolink:NamedThing	ligand-gated ion channel activity	Enables the transmembrane transfer of an ion by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts.		mondo.json	ionotropic receptor activity	http://purl.obolibrary.org/obo/GO_0015276		
MONDO:0035642	biolink:Disease	mixed phenotype acute leukemia with t(v;11q23.3)		NCIT:C82203|Orphanet:589595|ICD10CM:C92.6	mondo.json	MPAL with t(v;11q23.3); MLL rearranged|MPAL with t(v;11q23.3); KMT2A rearranged	http://purl.obolibrary.org/obo/MONDO_0035642	Orphanet:589595|NCIT:C82203	ordo_subtype_of_a_disorder
MONDO:0021020	biolink:Disease	Crigler-Najjar syndrome type 1	Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).	OMIM:218800|Orphanet:79234|GARD:0000047|SCTID:8933000|MedDRA:10057034	mondo.json	bilirubin-UGT deficiency type 1|bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1|hyperbilirubinemia, Crigler-Najjar type 1|UGT deficiency type 1|hereditary unconjugated hyperbilirubinemia type 1|Crigler-Najjar syndrome, type 1|Crigler Najjar syndrome, type 1|Crigler-Najjar syndrome, type I	http://purl.obolibrary.org/obo/MONDO_0021020	https://omim.org/entry/218800|http://identifiers.org/snomedct/8933000|Orphanet:79234	gard_rare|ordo_clinical_subtype
NCBITaxon:848	biolink:OrganismalEntity	Fusobacterium		PMID:11931161|PMID:1715737|GC_ID:11	mondo.json	Fusibacterium	http://purl.obolibrary.org/obo/NCBITaxon_848		
GO:0015291	biolink:NamedThing	secondary active transmembrane transporter activity	Enables the transfer of a solute from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy, not direct ATP coupling. Secondary active transporters include symporters and antiporters.		mondo.json	coupled carrier|secondary carrier-type facilitators|heavy metal ion porter activity|energizer of outer membrane receptor-mediated transport activity|ion-gradient-driven energizer activity|galactose/glucose (methylgalactoside) porter activity|porters|electrochemical potential-driven transporter activity|multidrug endosomal transmembrane transporter activity|nitrite/nitrate porter activity|porter activity|active transporter	http://purl.obolibrary.org/obo/GO_0015291		
MONDO:0035649	biolink:Disease	adult-onset Steinert myotonic dystrophy		ICD10CM:G71.1|Orphanet:589830	mondo.json	Adult-onset Steinert disease|Adult-onset myotonic dystrophy type 1	http://purl.obolibrary.org/obo/MONDO_0035649	Orphanet:589830	ordo_subtype_of_a_disorder
MONDO:0035648	biolink:Disease	juvenile-onset Steinert myotonic dystrophy		ICD10CM:G71.1|Orphanet:589827	mondo.json	Juvenile-onset myotonic dystrophy type 1|Juvenile-onset Steinert disease	http://purl.obolibrary.org/obo/MONDO_0035648	Orphanet:589827	ordo_subtype_of_a_disorder
MONDO:0021028	biolink:Disease	obsolete genetic nail anomaly	OBSOLETE. An instance of nail anomaly that is caused by a modification of the individual's genome.	Orphanet:183454	mondo.json	genetic nail anomaly	http://purl.obolibrary.org/obo/MONDO_0021028	Orphanet:183454	
MONDO:0021027	biolink:Disease	obsolete genetic hair anomaly	OBSOLETE. An instance of hair anomaly that is caused by a modification of the individual's genome.	Orphanet:183450	mondo.json	genetic hair anomaly	http://purl.obolibrary.org/obo/MONDO_0021027	Orphanet:183450	
MONDO:0021026	biolink:Disease	genetic epidermal appendage anomaly	An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome.	Orphanet:183447	mondo.json	genetic epidermal appendage anomaly	http://purl.obolibrary.org/obo/MONDO_0021026	Orphanet:183447	
CL:1000549	biolink:Cell	kidney cortex collecting duct epithelial cell		KUPO:0001063	mondo.json		http://purl.obolibrary.org/obo/CL_1000549		
CL:1000548	biolink:Cell	kidney outer medulla collecting duct epithelial cell		KUPO:0001062	mondo.json		http://purl.obolibrary.org/obo/CL_1000548		
MONDO:0021025	biolink:Disease	cirrhosis, familial, with antigenemia		OMIM:118900	mondo.json	cirrhosis, familial	http://purl.obolibrary.org/obo/MONDO_0021025	https://omim.org/entry/118900	
MONDO:0021024	biolink:Disease	malaria, susceptibility to		OMIM:611162	mondo.json	malaria, cerebral, resistance to|malaria, vivax, protection against|malaria, cerebral, susceptibility to|malaria, Severe, resistance to|malaria, protection against|malaria, Severe, susceptibility to|malaria, cerebral, reduced risk of|malaria, resistance to|resistance to malaria due to G6PD deficiency|malaria, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0021024	https://omim.org/entry/611162	predisposition
MONDO:0008068	biolink:Disease	obsolete navicular bone, accessory		OMIM:161600|MESH:C536002|GARD:0008543	mondo.json	navicular bone, accessory	http://purl.obolibrary.org/obo/MONDO_0008068	https://omim.org/entry/161600|http://identifiers.org/mesh/C536002	
CL:1000547	biolink:Cell	kidney inner medulla collecting duct epithelial cell		KUPO:0001061	mondo.json		http://purl.obolibrary.org/obo/CL_1000547		
MONDO:0008069	biolink:Disease	necrotizing encephalomyelopathy, subacute, of Leigh, adult		MESH:C563530|OMIM:161700|UMLS:C1834340	mondo.json	Leigh syndrome, adult|necrotizing encephalomyelopathy, subacute, of Leigh, adult	http://purl.obolibrary.org/obo/MONDO_0008069	http://identifiers.org/mesh/C563530|https://omim.org/entry/161700|UMLS:C1834340	
MONDO:0021023	biolink:Disease	complete androgen insensitivity syndrome	Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens.	Orphanet:99429|SCTID:368851000119102|ICD10CM:E34.51|GARD:0010597|UMLS:CN207337|NCIT:C120191	mondo.json	CAIS|complete androgen resistance syndrome|androgen insensitivity syndrome, complete	http://purl.obolibrary.org/obo/MONDO_0021023	http://purl.bioontology.org/ontology/ICD10CM/E34.51|Orphanet:99429|NCIT:C120191|http://identifiers.org/snomedct/368851000119102|UMLS:CN207337	ordo_disease|gard_rare
CL:1000546	biolink:Cell	kidney medulla collecting duct epithelial cell		KUPO:0001060	mondo.json		http://purl.obolibrary.org/obo/CL_1000546		
MONDO:0021022	biolink:Disease	hereditary hyperekplexia	Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.	SCTID:724351008|GARD:0003129|DOID:0060695|OMIMPS:149400|Orphanet:3197	mondo.json	congenital stiff man syndrome|hyperexplexia hereditary|Stiff baby syndrome|familial startle disease|startle disease|Kok disease|hereditary hyperexplexia|hyperekplexia|hereditary hyperekplexia	http://purl.obolibrary.org/obo/MONDO_0021022	DOID:0060695|Orphanet:3197|https://omim.org/phenotypicSeries/PS149400|http://identifiers.org/snomedct/724351008	ordo_disease
HP:0002607	biolink:PhenotypicFeature	Bowel incontinence	Involuntary fecal soiling in adults and children who have usually already been toilet trained.	SNOMEDCT_US:72042002|UMLS:C0015732|MSH:D005242	mondo.json	Faecal incontinence|Anal incontinence|Loss of bowel control|Fecal incontinence	http://purl.obolibrary.org/obo/HP_0002607		
MONDO:0008066	biolink:Disease	nasal hyperpigmentation, familial transverse		OMIM:161530|UMLS:C1834369	mondo.json	nasal hyperpigmentation, familial transverse	http://purl.obolibrary.org/obo/MONDO_0008066	https://omim.org/entry/161530|UMLS:C1834369	
MONDO:0023682	biolink:Disease	tympanic paraganglioma	A benign or malignant middle ear paraganglioma arising from paraganglia around the tympanum. Signs and symptoms include a mass behind the tympanum, tinnitus, and conductive hearing loss.	NCIT:C8428|UMLS:C0474820|GTR:AN0102048|SCTID:253031000|GTR:AN0102047|MESH:D043604	mondo.json	Tumors, Glomus Tympanicum|Glomus Tympanicum Tumors|tympanic paraganglioma|Glomus tympanicum paraganglioma|Tympanic Paraganglioma|Glomus tympanicum tumor|Tympanic paraganglioma|Glomus Tympanicum Tumor|Tumor, Glomus Tympanicum	http://purl.obolibrary.org/obo/MONDO_0023682	http://identifiers.org/mesh/D043604|NCIT:C8428|http://identifiers.org/snomedct/253031000|UMLS:C0474820	
MONDO:0021021	biolink:Disease	craniodiaphyseal dysplasia, autosomal dominant		MESH:C567275|OMIM:122860|GARD:0000249	mondo.json	CDD|dominantly inherited craniodiaphyseal dysplasia|craniodiaphyseal dysplasia, autosomal dominant|craniodiaphyseal dysplasia, dominant|Schaefer Stein Oshman syndrome	http://purl.obolibrary.org/obo/MONDO_0021021	http://identifiers.org/mesh/C567275|https://omim.org/entry/122860	
MONDO:0008067	biolink:Disease	nasopharyngeal carcinoma, susceptibility to, 2		UMLS:C2750548|OMIM:161550|GARD:0007163	mondo.json	nasopharyngeal carcinoma, susceptibility to, 2|NPCA2|Npca2|nasopharyngeal carcinoma, susceptibility to, type 2	http://purl.obolibrary.org/obo/MONDO_0008067	https://omim.org/entry/161550|UMLS:C2750548	predisposition
MONDO:0035650	biolink:Disease	late-onset Steinert myotonic dystrophy		ICD10CM:G71.1|Orphanet:589833	mondo.json	Late-onset myotonic dystrophy type 1|Late-onset Steinert disease	http://purl.obolibrary.org/obo/MONDO_0035650	Orphanet:589833	ordo_subtype_of_a_disorder
MONDO:0008064	biolink:Disease	nasal bones, absence of		UMLS:C4082198|MESH:C562753|OMIM:161480	mondo.json	nasal bones, absence of	http://purl.obolibrary.org/obo/MONDO_0008064	https://omim.org/entry/161480|UMLS:C4082198|http://identifiers.org/mesh/C562753	
MONDO:0008065	biolink:Disease	nasal groove, familial transverse		OMIM:161500|UMLS:C1834370	mondo.json	nasal groove, familial transverse	http://purl.obolibrary.org/obo/MONDO_0008065	https://omim.org/entry/161500|UMLS:C1834370	
MONDO:0008062	biolink:Disease	narcolepsy 1	A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy.	OMIM:161400|SCTID:46263000|UMLS:C1834372|MESH:C563534|NCIT:C84618	mondo.json	narcoleptic syndrome 1|cataplexy|narcolepsy caused by mutation in HCRT|HCRT narcolepsy|NRCLP1|narcolepsy 1|narcolepsy type 1	http://purl.obolibrary.org/obo/MONDO_0008062	https://omim.org/entry/161400|http://identifiers.org/mesh/C563534|UMLS:C1834372|NCIT:C84618|http://identifiers.org/snomedct/46263000	
HGNC:12840	biolink:NamedThing	YARS1			mondo.json		http://identifiers.org/hgnc/12840		
MONDO:0008063	biolink:Disease	nasal alar collapse, bilateral		UMLS:C1834371|OMIM:161470|MESH:C563533	mondo.json	nasal alar collapse, bilateral	http://purl.obolibrary.org/obo/MONDO_0008063	https://omim.org/entry/161470|http://identifiers.org/mesh/C563533|UMLS:C1834371	
MONDO:0008060	biolink:Disease	nonsyndromic congenital nail disorder 1	Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterised by excessive longitudinal striations and loss of nail luster affecting all 20 nails.	SCTID:238719003|UMLS:C0406443|OMIM:161050|UMLS:C3279974|DOID:0080079|ICD9:703.8|MESH:C562907|DOID:0080088|GARD:0010363|Orphanet:79153	mondo.json	FZD6 inherited isolated nail anomaly|autosomal dominant nail dysplasia|idiopathic trachyonychia|claw-Shaped nails|autosomal recessive nail dysplasia|nail disorder, nonsyndromic congenital, 1|nonsyndromic congenital nail disorder 10|nail Growth|nonsyndromic congenital nail disorder type 10|nonsyndromic congenital nail disorder type 1|onychodystrophy totalis|inherited isolated nail anomaly caused by mutation in FZD6|onychauxis, hyponychia, and onycholysis|trachyonychia|nail disorder, nonsyndromic congenital, type 10|twenty-nail dystrophy|nail disorder, nonsyndromic congenital 1|onychodystrophy totalis, isolated|sandpaper nails|NDNC1|NDNC10|nail disorder, nonsyndromic congenital, 10|twenty nail dystrophy	http://purl.obolibrary.org/obo/MONDO_0008060	http://identifiers.org/mesh/C562907|UMLS:C0406443|DOID:0080079|DOID:0080088|Orphanet:79153|https://omim.org/entry/161050|http://identifiers.org/snomedct/238719003	ordo_disease
MONDO:0008061	biolink:Disease	nail-patella syndrome	A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.	SCTID:22199006|DOID:9467|Orphanet:2614|OMIM:161200|ICD9:759.89|MedDRA:10063431|MESH:D009261|NCIT:C75120|GARD:0007160|UMLS:C0027341	mondo.json	osteo-onychodysplasia|hereditary onychoostedysplasia|onychoosteodysplasia|iliac horn syndrome|nail-patella syndrome|Turner-Kieser syndrome|NPS1|Turner-Kiser syndrome|hereditary Osteo-onychodysplasia|arthro-onychodysplasia|NPS|Fong disease|nail patella syndrome|NPS 1	http://purl.obolibrary.org/obo/MONDO_0008061	https://omim.org/entry/161200|DOID:9467|UMLS:C0027341|http://identifiers.org/snomedct/22199006|Orphanet:2614|http://identifiers.org/mesh/D009261|NCIT:C75120	ordo_malformation_syndrome|gard_rare
MONDO:0021019	biolink:Disease	X-linked recessive ocular albinism	X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.	NCIT:C118785|UMLS:C0342684|MESH:C537863|SCTID:78642008|ICD9:270.2|OMIM:300500|GARD:0008471|Orphanet:54	mondo.json	ocular albinism, type I, Nettleship-Falls type|ocular albinism type 1|X-linked ocular albinism|albinism, ocular, type I|albinism, ocular, type 1|Nettleship-Falls syndrome|OA1|ocular albinism, Nettleship-Falls type|XLOA|Nettleship-Falls type ocular albinism	http://purl.obolibrary.org/obo/MONDO_0021019	http://identifiers.org/mesh/C537863|UMLS:C0342684|https://omim.org/entry/300500|Orphanet:54|http://identifiers.org/snomedct/78642008|NCIT:C118785	ordo_disease
MONDO:0021018	biolink:Disease	autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3.	DOID:0110305|OMIM:603511|MESH:C566370|GARD:0012528|UMLS:C3501858|Orphanet:34516|UMLS:C3148763	mondo.json	limb-girdle muscular dystrophy type 1D|muscular dystrophy limb-girdle type 1E|autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6|muscular dystrophy, limb-girdle, autosomal dominant 1|muscular dystrophy, limb-girdle, type 1D, formerly|muscular dystrophy, limb-girdle, type 1E|autosomal dominant limb-girdle muscular dystrophy type 1E|muscular dystrophy limb-girdle type 1D|muscular dystrophy, limb-girdle, type 1D|LGMD1E|DNAJB6 autosomal dominant limb-girdle muscular dystrophy|LGMD1D|LGMD1D (DNAJB6)|LGMD1E (Bushby and Beckmann, 2003)|autosomal dominant limb-girdle muscular dystrophy type 1D	http://purl.obolibrary.org/obo/MONDO_0021018	UMLS:C3501858|DOID:0110305|https://omim.org/entry/603511|Orphanet:34516|http://identifiers.org/mesh/C566370	ordo_disease
HGNC:12843	biolink:NamedThing	YME1L1			mondo.json		http://identifiers.org/hgnc/12843		
MONDO:0035651	biolink:Disease	choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome		Orphanet:589856	mondo.json	KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0035651	Orphanet:589856	ordo_disorder
NCBITaxon:5506	biolink:OrganismalEntity	Fusarium		PMID:23379853|PMID:33200960|PMID:31226019|PMID:30728601|GC_ID:1	mondo.json	Luteonectria Sand.-Den., L. Lombard, Schroers & Rossman, 2021|Rectifusarium|Neocosmospora|Luteonectria|Gibberella|Albonectria|Bisifusarium|Setofusarium|Haematonectria|Nothofusarium|Cyanonectria|Fusarium sect. Setofusarium|Geejayessia	http://purl.obolibrary.org/obo/NCBITaxon_5506		
NCBITaxon:5501	biolink:OrganismalEntity	Coccidioides immitis		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5501		
UBERON:0019231	biolink:AnatomicalEntity	manual digit 1 or 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019231		
NCBITaxon:5500	biolink:OrganismalEntity	Coccidioides		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5500		
MONDO:0011603	biolink:Disease	GNE myopathy	Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps.	Orphanet:602|SCTID:702382000|GARD:0009493|OMIM:605820	mondo.json	inclusion body myopathy 2, autosomal recessive, formerly|DMRV|inclusion body myopathy autosomal recessive|inclusion body myopathy 2, autosomal recessive|distal myopathy, Nonaka type|inclusion body myopathy, autosomal recessive|myopathy, distal, with or without rimmed vacuoles|rimmed vacuole myopathy|QSM|distal myopathy with rimmed vacuoles|Nonaka distal myopathy|hereditary inclusion body myopathy type 2|HIBM2|inclusion body myopathy, quadriceps-sparing|NM|quadriceps-sparing myopathy|quadriceps sparing myopathy|inclusion body myopathy, hereditary, autosomal recessive|inclusion body myopathy type 2|IBM2|Nonaka myopathy|myopathy, distal, with rimmed vacuoles	http://purl.obolibrary.org/obo/MONDO_0011603	https://omim.org/entry/605820|Orphanet:602|http://identifiers.org/snomedct/702382000	ordo_disease
MONDO:0011602	biolink:Disease	autosomal recessive nonsyndromic hearing loss 27	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31.	DOID:0110485|UMLS:C1853941|OMIM:605818|MESH:C565287	mondo.json	autosomal recessive nonsyndromic deafness type 27|DFNB27|autosomal recessive nonsyndromic deafness 27|autosomal recessive deafness 27|deafness, autosomal recessive 27	http://purl.obolibrary.org/obo/MONDO_0011602	UMLS:C1853941|http://identifiers.org/mesh/C565287|https://omim.org/entry/605818|DOID:0110485	
HGNC:12805	biolink:NamedThing	XDH			mondo.json		http://identifiers.org/hgnc/12805		
MONDO:0011605	biolink:Disease	generalized basaloid follicular hamartoma syndrome	Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.	SCTID:766928004|MESH:C565284|Orphanet:168632|OMIM:605827|UMLS:C1853919	mondo.json	basaloid follicular hamartoma syndrome, generalized, autosomal dominant|GBFHS	http://purl.obolibrary.org/obo/MONDO_0011605	UMLS:C1853919|Orphanet:168632|http://identifiers.org/snomedct/766928004|http://identifiers.org/mesh/C565284|https://omim.org/entry/605827	ordo_disease
CHEBI:29412	biolink:ChemicalSubstance	oxonium			mondo.json	aquahydrogen(1+)|[OH3](+)|trihydridooxygen(1+)|oxidanium|H3O(+)|Hydronium cation|oxonium|Hydronium ion	http://purl.obolibrary.org/obo/CHEBI_29412		
MONDO:0011604	biolink:Disease	spondylo-ocular syndrome	Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.	Orphanet:85194|OMIM:605822|SCTID:715653007	mondo.json	spondyloocular syndrome|SOS	http://purl.obolibrary.org/obo/MONDO_0011604	http://identifiers.org/snomedct/715653007|Orphanet:85194|https://omim.org/entry/605822	ordo_malformation_syndrome
MONDO:0011607	biolink:Disease	narcolepsy 2, susceptibility to		OMIM:605841|UMLS:C1853901	mondo.json	narcolepsy 2, susceptibility to|NRCLP2|narcolepsy 2	http://purl.obolibrary.org/obo/MONDO_0011607	UMLS:C1853901|https://omim.org/entry/605841	predisposition
MONDO:0011606	biolink:Disease	baby rattle pelvis dysplasia		UMLS:C1853911|MESH:C537794|MESH:C565282|GARD:0009289|OMIM:605838	mondo.json	baby rattle pelvic dysplasia|baby rattle pelvis dysplasia	http://purl.obolibrary.org/obo/MONDO_0011606	UMLS:C1853911|https://omim.org/entry/605838|http://identifiers.org/mesh/C565282|http://identifiers.org/mesh/C537794	gard_rare
UBERON:0034873	biolink:AnatomicalEntity	bodily gas			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034873		
MONDO:0011609	biolink:Disease	atopic dermatitis 6	An atopic dermatitis associated with variation in the region 5q31-q33.	OMIM:605845|UMLS:C1853899|DOID:0110102|MESH:C565279	mondo.json	dermatitis, ATOPIC, 6|atopic dermatitis type 6|dermatitis, atopic, susceptibility to, 6|ATOD6	http://purl.obolibrary.org/obo/MONDO_0011609	DOID:0110102|UMLS:C1853899|http://identifiers.org/mesh/C565279|https://omim.org/entry/605845	
UBERON:0034874	biolink:AnatomicalEntity	air in respiratory system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034874		
MONDO:0011608	biolink:Disease	atopic dermatitis 5	An atopic dermatitis associated with variation in the region 13q12-q14.	OMIM:605844|DOID:0110101|MESH:C565280|UMLS:C1853900	mondo.json	dermatitis, ATOPIC, 5|ATOD5|atopic dermatitis type 5|dermatitis, atopic, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0011608	UMLS:C1853900|http://identifiers.org/mesh/C565280|https://omim.org/entry/605844|DOID:0110101	
UBERON:0034875	biolink:AnatomicalEntity	future pituitary gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034875		
UBERON:0007257	biolink:AnatomicalEntity	intervertebral disk of sacral vertebra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007257		
UBERON:0010899	biolink:AnatomicalEntity	synchronous hermaphroditic organism			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010899		
UBERON:0007255	biolink:AnatomicalEntity	intervertebral disk of lumbar vertebra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007255		
UBERON:0007254	biolink:AnatomicalEntity	intervertebral disk of thoracic vertebra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007254		
MONDO:0011610	biolink:Disease	dimethylglycine dehydrogenase deficiency	An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. This is an n-of-1 use case where only one patient or family has been described with this disorder.	UMLS:C1853892|MESH:C565278|Orphanet:243343|SCTID:719449007|OMIM:605850	mondo.json	DMG dehydrogenase deficiency|dimethylglycine dehydrogenase deficiency|DMGDH deficiency|Dmgdh deficiency|disorder of dimethylglycine dehydrogenase activity|DMGDHD|dimethylglycine dehydrogenase activity disease	http://purl.obolibrary.org/obo/MONDO_0011610	Orphanet:243343|http://identifiers.org/mesh/C565278|https://omim.org/entry/605850|http://identifiers.org/snomedct/719449007|UMLS:C1853892	ordo_disease|n_of_one
GO:0042886	biolink:NamedThing	amide transport	The directed movement of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0042886		
UBERON:0007252	biolink:AnatomicalEntity	intervertebral disk of cervical vertebra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007252		
MONDO:0011612	biolink:Disease	glycine encephalopathy	Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.	DOID:9268|NCIT:C84937|UMLS:C0751748|GARD:0007219|ICD9:270.7|Orphanet:407|OMIM:605899|SCTID:237939006	mondo.json	glycine encephalopathy|hyperglycinemia, Nonketotic|NKA|hyperglycinemia, transient neonatal|hyperglycinemia nonketotic|GCE|nonketotic hyperglycinemia|non-ketotic hyperglycinemia|Glycine synthase deficiency|GLYCINE encephalopathy	http://purl.obolibrary.org/obo/MONDO_0011612	http://identifiers.org/snomedct/237939006|NCIT:C84937|Orphanet:407|https://omim.org/entry/605899|UMLS:C0751748|DOID:9268	ordo_disease|gard_rare
HGNC:12811	biolink:NamedThing	XK			mondo.json		http://identifiers.org/hgnc/12811		
MONDO:0011611	biolink:Disease	short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting		MESH:C566989|OMIM:605856|UMLS:C1970039	mondo.json	short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting|short stature, mental retardation, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting	http://purl.obolibrary.org/obo/MONDO_0011611	UMLS:C1970039|https://omim.org/entry/605856|http://identifiers.org/mesh/C566989	
CHEBI:6495	biolink:ChemicalSubstance	lipoprotein	A clathrate complex consisting of a lipid enwrapped in a protein host without covalent binding in such a way that the complex has a hydrophilic outer surface consisting of all the protein and the polar ends of any phospholipids.		mondo.json	lipoproteins|lipoprotein particle|Lipoprotein	http://purl.obolibrary.org/obo/CHEBI_6495		
GO:0005901	biolink:NamedThing	caveola	A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis.  Caveolae may be pinched off to form free vesicles within the cytoplasm.		mondo.json	caveolae|caveolar membrane	http://purl.obolibrary.org/obo/GO_0005901		
GO:0005902	biolink:NamedThing	microvillus	Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells.		mondo.json	microvilli	http://purl.obolibrary.org/obo/GO_0005902		
UBERON:0019221	biolink:AnatomicalEntity	digit 1 or 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019221		
CHEBI:30413	biolink:ChemicalSubstance	heme	A heme is any tetrapyrrolic chelate of iron.		mondo.json	hemes|Haem|haem|hem|heme|haeme|hemos	http://purl.obolibrary.org/obo/CHEBI_30413		
UBERON:0010890	biolink:AnatomicalEntity	pelvic complex muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010890		
HGNC:12816	biolink:NamedThing	XPC			mondo.json		http://identifiers.org/hgnc/12816		
UBERON:0010891	biolink:AnatomicalEntity	pectoral complex muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010891		
HGNC:12814	biolink:NamedThing	XPA			mondo.json		http://identifiers.org/hgnc/12814		
UBERON:0010894	biolink:AnatomicalEntity	keratinous tooth			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010894		
UBERON:0010893	biolink:AnatomicalEntity	median external naris			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010893		
UBERON:0034876	biolink:AnatomicalEntity	future neurohypophysis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034876		
UBERON:0007245	biolink:AnatomicalEntity	nuclear complex of neuraxis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007245		
UBERON:0010885	biolink:AnatomicalEntity	hindlimb cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010885		
UBERON:0034878	biolink:AnatomicalEntity	prechordal mesoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034878		
UBERON:0007243	biolink:AnatomicalEntity	tunica media of vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007243		
UBERON:0010886	biolink:AnatomicalEntity	hindlimb pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010886		
UBERON:0007242	biolink:AnatomicalEntity	tunica intima of vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007242		
HGNC:12823	biolink:NamedThing	XPNPEP2			mondo.json		http://identifiers.org/hgnc/12823		
UBERON:0007241	biolink:AnatomicalEntity	tunica adventitia of vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007241		
MONDO:0011601	biolink:Disease	neonatal intrahepatic cholestasis due to citrin deficiency	Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.	MESH:C536398|UMLS:C1853942|UMLS:C4274030|Orphanet:247598|OMIM:605814|GARD:0010214|SCTID:717155003	mondo.json	neonatal-onset citrullinemia type II|neonatal intrahepatic cholestasis caused by citrin deficiency|neonatal intrahepatic cholestasis due to citrin deficiency|NICCD|cholestasis, neonatal intrahepatic, caused by citrin deficiency|neonatal-onset citrullinemia type 2|citrullinemia, type II, neonatal-onset|citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia	http://purl.obolibrary.org/obo/MONDO_0011601	Orphanet:247598|UMLS:C1853942|UMLS:C4274030|http://identifiers.org/snomedct/717155003|http://identifiers.org/mesh/C536398|https://omim.org/entry/605814	ordo_disease
UBERON:0007240	biolink:AnatomicalEntity	tunica adventitia of artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007240		
MONDO:0011600	biolink:Disease	congenital myasthenic syndrome 4A	A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.	UMLS:C1853949|DOID:0110678|OMIM:605809	mondo.json	congenital myasthenic syndrome 4A slow-channel|myasthenic syndrome, congenital, 4A, slow-channel|CMS1A1|congenital myasthenic syndrome type 4A|congenital myasthenic syndrome type Ia1, formerly|CMS4A|Cms Ia1, formerly|congenital myasthenic syndrometype Ia1|congenital myasthenic syndrome type Ia1|Cms Ia1|CMS Ia1	http://purl.obolibrary.org/obo/MONDO_0011600	UMLS:C1853949|https://omim.org/entry/605809|DOID:0110678	
CHEBI:30411	biolink:ChemicalSubstance	cobalamin	A cobalt-corrinoid hexaamide that is cobalamin with the oxidation state of the central cobalt atom unspecified.		mondo.json	cobalamin|COBALAMIN|Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-cobamide	http://purl.obolibrary.org/obo/CHEBI_30411		
UBERON:0007247	biolink:AnatomicalEntity	nucleus of superior olivary complex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007247		
HGNC:3133	biolink:NamedThing	EBP			mondo.json		http://identifiers.org/hgnc/3133		
UBERON:0010883	biolink:AnatomicalEntity	forelimb cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010883		
UBERON:0010884	biolink:AnatomicalEntity	forelimb bone pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010884		
UBERON:0010881	biolink:AnatomicalEntity	limb cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010881		
UBERON:0010882	biolink:AnatomicalEntity	limb bone pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010882		
HGNC:3143	biolink:NamedThing	EBVS1			mondo.json		http://identifiers.org/hgnc/3143		
CL:1000510	biolink:Cell	kidney glomerular epithelial cell		KUPO:0001023	mondo.json		http://purl.obolibrary.org/obo/CL_1000510		
NCBITaxon:27479	biolink:OrganismalEntity	Reduviidae		GC_ID:1	mondo.json	assassin bugs	http://purl.obolibrary.org/obo/NCBITaxon_27479		
UBERON:0009891	biolink:AnatomicalEntity	facial mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009891		
HGNC:3148	biolink:NamedThing	TYMP			mondo.json		http://identifiers.org/hgnc/3148		
UBERON:0007239	biolink:AnatomicalEntity	tunica media of artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007239		
HGNC:3147	biolink:NamedThing	ECEL1			mondo.json		http://identifiers.org/hgnc/3147		
UBERON:0007238	biolink:AnatomicalEntity	1st arch maxillary component			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007238		
HGNC:3146	biolink:NamedThing	ECE1			mondo.json		http://identifiers.org/hgnc/3146		
UBERON:0007237	biolink:AnatomicalEntity	1st arch mandibular component			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007237		
MONDO:0035605	biolink:Disease	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality		Orphanet:585877|NCIT:C80328|ICD10CM:C91.0	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035605	NCIT:C80328|Orphanet:585877	ordo_subtype_of_a_disorder
CL:1000507	biolink:Cell	kidney tubule cell		KUPO:0001020	mondo.json		http://purl.obolibrary.org/obo/CL_1000507		
CL:1000505	biolink:Cell	kidney pelvis cell		KUPO:0001018	mondo.json		http://purl.obolibrary.org/obo/CL_1000505		
CL:1000504	biolink:Cell	kidney medulla cell		KUPO:0001017	mondo.json		http://purl.obolibrary.org/obo/CL_1000504		
UBERON:0019206	biolink:AnatomicalEntity	tongue papilla epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019206		
UBERON:0019207	biolink:AnatomicalEntity	chorioretinal region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019207		
UBERON:0019204	biolink:AnatomicalEntity	skin epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019204		
CL:1000500	biolink:Cell	kidney interstitial cell		KUPO:0001013	mondo.json		http://purl.obolibrary.org/obo/CL_1000500		
UBERON:0034898	biolink:AnatomicalEntity	alveolar ridge of premaxilla			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034898		
UBERON:0009887	biolink:AnatomicalEntity	interlobar vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009887		
HGNC:3153	biolink:NamedThing	ECM1			mondo.json		http://identifiers.org/hgnc/3153		
UBERON:0007223	biolink:AnatomicalEntity	osseus cochlea			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007223		
UBERON:0009889	biolink:AnatomicalEntity	secondary heart field			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009889		
HGNC:3151	biolink:NamedThing	ECHS1			mondo.json		http://identifiers.org/hgnc/3151		
UBERON:0007220	biolink:AnatomicalEntity	late embryonic stage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007220		
HGNC:12801	biolink:NamedThing	XBP1			mondo.json		http://identifiers.org/hgnc/12801		
MONDO:0035614	biolink:Disease	sporadic fatal insomnia	A rare sporadic human prion disease characterized by adult onset of progredient neurodegeneration presenting as a combination of psychiatric, sleep, and oculomotor disturbances, with development of progressive cognitive impairment (the predominantly affected cognitive domains being memory, temporal and/or spatial orientation, language, executive functions, and attention), postural instability, and sometimes additional motor abnormalities and autonomic hyperactivity, in the course of the disease. Bilateral thalamic hypometabolism on FDG-PET imaging and positive prion seeding activity in the cerebrospinal fluid are present in many cases. The disease is fatal within typically two to three years.	ICD10CM:A81.9|Orphanet:586130	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035614	Orphanet:586130	ordo_disorder
UBERON:0009880	biolink:AnatomicalEntity	carpal skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009880		
UBERON:0009881	biolink:AnatomicalEntity	anterior lateral plate mesoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009881		
UBERON:0009882	biolink:AnatomicalEntity	anal column			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009882		
UBERON:0007228	biolink:AnatomicalEntity	vestibular nucleus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007228		
UBERON:0009883	biolink:AnatomicalEntity	medullary ray			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009883		
HGNC:3157	biolink:NamedThing	EDA			mondo.json		http://identifiers.org/hgnc/3157		
UBERON:0009885	biolink:AnatomicalEntity	interlobar artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009885		
MONDO:0011647	biolink:Disease	Alzheimer disease 7	An Alzheimer's disease that is characterized by an associated with variation in the region 10p13.	UMLS:C1853555|DOID:0110039|MESH:C565251|OMIM:606187	mondo.json	Ad7|Alzheimer disease, familial 7|Alzheimer disease 7|Alzheimer disease type 7|AD7|Alzheimer's disease type 7|Alzheimer's disease 7|Alzheimer disease, familial, 7|Alzheimer disease-7	http://purl.obolibrary.org/obo/MONDO_0011647	https://omim.org/entry/606187|http://identifiers.org/mesh/C565251|DOID:0110039|UMLS:C1853555	
MONDO:0011646	biolink:Disease	laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy		OMIM:606183|MESH:C565252|UMLS:C1853556	mondo.json	laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy	http://purl.obolibrary.org/obo/MONDO_0011646	https://omim.org/entry/606183|http://identifiers.org/mesh/C565252|UMLS:C1853556	
MONDO:0011649	biolink:Disease	AVSD 1		OMIM:606215	mondo.json	atrioventricular canal defect|atrioventricular septal defect, susceptibility to, 1|atrioventricular septal defect|AVC defect|endocardial cushion defect|AVSD	http://purl.obolibrary.org/obo/MONDO_0011649	https://omim.org/entry/606215	predisposition
MONDO:0011648	biolink:Disease	radiation-induced meningioma		GARD:0008491|OMIM:606190|UMLS:C1853554|MESH:C536266	mondo.json	Mnri|radiation induced meningioma|meningioma, radiation-induced	http://purl.obolibrary.org/obo/MONDO_0011648	https://omim.org/entry/606190|http://identifiers.org/mesh/C536266|UMLS:C1853554	gard_rare
MONDO:0011650	biolink:Disease	atrioventricular septal defect, susceptibility to, 2	Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene.	OMIM:606217|MESH:C565249	mondo.json	atrioventricular septal defect caused by mutation in CRELD1|atrioventricular septal defect, partial, with heterotaxy syndrome|susceptibility to atrioventricular septal defect 2|atrioventricular septal defect, susceptibility to, 2|atrioventricular septal defect, susceptibility to, type 2|CRELD1 atrioventricular septal defect|AVSD2	http://purl.obolibrary.org/obo/MONDO_0011650	http://identifiers.org/mesh/C565249|https://omim.org/entry/606217	predisposition
MONDO:0011652	biolink:Disease	Phelan-McDermid syndrome	Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.	MESH:C536801|DOID:0080354|ICD9:758.39|GARD:0010130|Orphanet:48652|OMIM:606232|DECIPHER:20|UMLS:C1853490|SCTID:699310000	mondo.json	monosomy type 22q13|22q13 deletion|monosomy 22q13|PHELAN-McDermid syndrome|Phelan McDermid syndrome|telomeric 22Q13 monosomy syndrome|Phelan-McDermid syndrome|22q13.3 deletion syndrome|deletion 22q13.3 syndrome|chromosome 22Q13.3 deletion syndrome|PHMDS	http://purl.obolibrary.org/obo/MONDO_0011652	DOID:0080354|http://identifiers.org/mesh/C536801|UMLS:C1853490|Orphanet:48652|https://omim.org/entry/606232|http://identifiers.org/snomedct/699310000	ordo_malformation_syndrome
GO:1904000	biolink:NamedThing	positive regulation of eating behavior	Any process that activates or increases the frequency, rate or extent of eating behavior.		mondo.json	up regulation of eating behavior|up regulation of eating behaviour|activation of eating behavior|up-regulation of eating behaviour|activation of eating behaviour|upregulation of eating behavior|upregulation of eating behaviour|up-regulation of eating behavior|positive regulation of eating behaviour	http://purl.obolibrary.org/obo/GO_1904000		
MONDO:0011651	biolink:Disease	intellectual disability, short stature, facial anomalies, and joint dislocations		UMLS:C1853507|OMIM:606220|MESH:C565248	mondo.json	mental retardation, short stature, facial anomalies, and JOINT dislocations|intellectual disability, short stature, facial anomalies, and JOINT dislocations|intellectual developmental disorder with short stature, facial anomalies, and speech defects	http://purl.obolibrary.org/obo/MONDO_0011651	http://identifiers.org/mesh/C565248|UMLS:C1853507|https://omim.org/entry/606220	
UBERON:0007298	biolink:AnatomicalEntity	pronephric proximal convoluted tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007298		
MONDO:0011654	biolink:Disease	intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism		MESH:C565246|UMLS:C1853480|OMIM:606242	mondo.json	Kondoh syndrome|mental retardation, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism|intellectual disability, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism	http://purl.obolibrary.org/obo/MONDO_0011654	http://identifiers.org/mesh/C565246|UMLS:C1853480|https://omim.org/entry/606242	
UBERON:0007297	biolink:AnatomicalEntity	presumptive pronephric mesoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007297		
MONDO:0011653	biolink:Disease	thyroid cancer, nonmedullary, 3		OMIM:606240|UMLS:C1853488	mondo.json	thyroid carcinoma, nonmedullary, 3|thyroid cancer, nonmedullary, 1, formerly|thyroid cancer, nonmedullary, 3|thyroid cancer, nonmedullary, 1|NMTC3	http://purl.obolibrary.org/obo/MONDO_0011653	UMLS:C1853488|https://omim.org/entry/606240	
MONDO:0011656	biolink:Disease	paget disease of bone 4		UMLS:C1853473|MESH:C565240|OMIM:606263	mondo.json	Paget disease of bone 4|PDB4	http://purl.obolibrary.org/obo/MONDO_0011656	http://identifiers.org/mesh/C565240|UMLS:C1853473|https://omim.org/entry/606263	
MONDO:0011655	biolink:Disease	alveolar soft part sarcoma	An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh.	ICD9:171.9|ONCOTREE:ASPS|HP:0012218|DOID:4239|MedDRA:10001882|NCIT:C7943|UMLS:C0206657|OMIM:606243|GARD:0005654|NCIT:C3750|ICDO:9581/3|Orphanet:163699|UMLS:C0279544|EFO:0007143|SCTID:404056007|MESH:D018234	mondo.json	adult alveolar soft Part sarcoma|alveolar soft part sarcoma|adult alveolar soft-Part sarcoma|alveolar soft PART sarcoma|alveolar soft part sarcoma (disease)|childhood alveolar soft part sarcoma|alveolar soft tissue sarcoma|alveolar soft-part sarcoma|ASPS|alveolar soft-tissue sarcoma|pediatric alveolar soft Part sarcoma|adult alveolar soft part sarcoma|alveolar soft Part sarcoma	http://purl.obolibrary.org/obo/MONDO_0011655	UMLS:C0279544|DOID:4239|http://identifiers.org/snomedct/404056007|UMLS:C0206657|Orphanet:163699|http://identifiers.org/mesh/D018234|NCIT:C7943|NCIT:C3750|https://omim.org/entry/606243	ordo_disease
NCBITaxon:5552	biolink:OrganismalEntity	Trichosporon		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5552		
NCBITaxon:5553	biolink:OrganismalEntity	Trichosporon beigelii		GC_ID:1	mondo.json	Pleurococcus beigelii	http://purl.obolibrary.org/obo/NCBITaxon_5553		
NCBITaxon:5550	biolink:OrganismalEntity	Trichophyton		GC_ID:1|PMID:27783317	mondo.json	Bodinia|Grubyella	http://purl.obolibrary.org/obo/NCBITaxon_5550		
MONDO:0023628	biolink:Disease	levator syndrome	Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It may occur spontaneously or with sitting and can waken a person from sleep. The pain may feel as if it would be relieved by the passage of gas or a bowel movement. In severe cases, the pain can persist for many hours and can recur frequently. A person may have undergone various unsuccessful rectal operations to relieve these symptoms.	MESH:C535890|GARD:0006899|SCTID:62647006|NCIT:C113615	mondo.json	proctalgia fugax|levator ani spasm syndrome|levator ani syndrome|paroxysmal proctalgia|levator syndrome|psychogenic anal spasm|anorectal spasm|painful spasm of anus	http://purl.obolibrary.org/obo/MONDO_0023628	http://identifiers.org/mesh/C535890|NCIT:C113615|http://identifiers.org/snomedct/62647006	gard_rare
HGNC:3169	biolink:NamedThing	S1PR2			mondo.json		http://identifiers.org/hgnc/3169		
UBERON:0019269	biolink:AnatomicalEntity	gray matter of diencephalon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019269		
UBERON:0019267	biolink:AnatomicalEntity	gray matter of midbrain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019267		
UBERON:0019264	biolink:AnatomicalEntity	gray matter of forebrain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019264		
MONDO:0008008	biolink:Disease	MOMO syndrome	MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.	UMLS:C1834759|Orphanet:2563|SCTID:724137002|MESH:C535812|OMIM:157980|GARD:0000178	mondo.json	macrosomia-obesity-macrocephaly-ocular abnormalities syndrome|momo syndrome|macrosomia, obesity, macrocephaly, ocular abnormalities|macrocephaly-obesity-mental disability-ocular abnormalities syndrome|macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)|macrosomia, obesity, macrocephaly, and ocular abnormalities	http://purl.obolibrary.org/obo/MONDO_0008008	https://omim.org/entry/157980|UMLS:C1834759|Orphanet:2563|http://identifiers.org/snomedct/724137002|http://identifiers.org/mesh/C535812	gard_rare|ordo_malformation_syndrome
UBERON:0019262	biolink:AnatomicalEntity	white matter of myelencephalon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019262		
UBERON:0019263	biolink:AnatomicalEntity	gray matter of hindbrain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019263		
MONDO:0008009	biolink:Disease	monilethrix	Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.	OMIM:158000|DOID:0050472|NCIT:C84894|GARD:0000093|MESH:D056734|UMLS:C0546966|Orphanet:573|SCTID:69488000|OMIM:252200	mondo.json	nodose hair|moniliform hair syndrome|monilethrix|MNLIX	http://purl.obolibrary.org/obo/MONDO_0008009	http://identifiers.org/snomedct/69488000|UMLS:C0546966|NCIT:C84894|http://identifiers.org/mesh/D056734|Orphanet:573|https://omim.org/entry/158000|DOID:0050472	ordo_disease|gard_rare
MONDO:0008006	biolink:Disease	Mobius syndrome	Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.	Orphanet:570|ICD9:759.89|MedDRA:10030069|NCIT:C84893|MedDRA:10027789|SCTID:89444000|UMLS:C0221060|EFO:1001046|OMIM:157900|DOID:13501|GARD:0008549|UMLS:C0853240|MESH:D020331	mondo.json	congenital facial diplegia|Moebius sequence|congenital facial diplegia syndrome|absence or underdevelopment of the 6th and 7th cranial nerves|oromandibular-limb hypogenesis spectrum|Moebius syndrome|Möbius syndrome|Moebius syndrome, Isolated cases|Mobius syndrome|Moebius congenital oculofacial paralysis|MBS|congenital oculofacial paralysis	http://purl.obolibrary.org/obo/MONDO_0008006	https://omim.org/entry/157900|http://identifiers.org/mesh/D020331|NCIT:C84893|Orphanet:570|UMLS:C0221060|http://identifiers.org/snomedct/89444000|UMLS:C0853240|DOID:13501	ordo_disease
MONDO:0011636	biolink:Disease	Diamond-Blackfan anemia 2		MESH:C536130|OMIM:606129|GARD:0008283|UMLS:C1853666	mondo.json	Diamond-Blackfan Anemia, 2|DBA2|Diamond-Blackfan anemia 2|anemia Diamond-Blackfan 2	http://purl.obolibrary.org/obo/MONDO_0011636	https://omim.org/entry/606129|http://identifiers.org/mesh/C536130|UMLS:C1853666	gard_rare
UBERON:0007282	biolink:AnatomicalEntity	presumptive segmental plate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007282		
MONDO:0011635	biolink:Disease	goiter, multinodular 3		OMIM:606082|UMLS:C1853686|MESH:C565260	mondo.json	goiter, multinodular, 3|goiter, multinodular 3|MNG3	http://purl.obolibrary.org/obo/MONDO_0011635	https://omim.org/entry/606082|http://identifiers.org/mesh/C565260|UMLS:C1853686	
MONDO:0008007	biolink:Disease	tooth ankylosis	Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement.	UMLS:C0155930|SCTID:14901003|MESH:D020254|GARD:0000701|EFO:1001215|MedDRA:10044019|DOID:12661|OMIM:157950|ICD9:521.6|Orphanet:1077	mondo.json	molar 1 reinclusion|secondary retention of permanent molars|ankylosis of teeth|permanent molars, secondary retention OF|ankylosis of tooth|dental ankylosis|abnormal fusion of dental cementum with alveolar bone|ankylosis (disease) of calcareous tooth|molar I reinclusion|calcareous tooth ankylosis (disease)	http://purl.obolibrary.org/obo/MONDO_0008007	DOID:12661|https://omim.org/entry/157950|UMLS:C0155930|http://identifiers.org/mesh/D020254|Orphanet:1077|http://identifiers.org/snomedct/14901003	ordo_malformation_syndrome
UBERON:0007281	biolink:AnatomicalEntity	presumptive midbrain hindbrain boundary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007281		
MONDO:0008004	biolink:Disease	familial mitral valve prolapse	An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome.	SCTID:233858000|OMIMPS:157700|Orphanet:741|GARD:0003687	mondo.json	hereditary mitral valve prolapse (disease)|mitral valve prolapse, familial|MVP|mitral valve prolapse, familial, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008004	http://identifiers.org/snomedct/233858000|Orphanet:741|https://omim.org/phenotypicSeries/PS157700	ordo_morphological_anomaly
MONDO:0011638	biolink:Disease	neuroferritinopathy	Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits.	UMLS:C1853578|SCTID:699299001|MESH:C548080|Orphanet:157846|GARD:0010686|DOID:0110737|ICD9:333.0|OMIM:606159	mondo.json	hereditary ferritinopathy|neurodegeneration with brain iron accumulation type 3|basal ganglia disease adult-onset|neuroferritinopathy|Neuroferritinopathy; basal ganglia disease, adult-onset|neurodegeneration with brain iron accumulation 3|adult basal ganglia disease|basal ganglia disease, adult-onset|NBIA3|ferritin-related neurodegeneration	http://purl.obolibrary.org/obo/MONDO_0011638	http://identifiers.org/snomedct/699299001|https://omim.org/entry/606159|http://identifiers.org/mesh/C548080|DOID:0110737|UMLS:C1853578|Orphanet:157846	ordo_disease
UBERON:0007280	biolink:AnatomicalEntity	presumptive endocardium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007280		
MONDO:0011637	biolink:Disease	Sener syndrome		UMLS:C1853616|OMIM:606156|GARD:0008451|MESH:C537579	mondo.json	polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia|Sener syndrome|frontonasal dysplasia and dilated Virchow-Robin spaces	http://purl.obolibrary.org/obo/MONDO_0011637	https://omim.org/entry/606156|http://identifiers.org/mesh/C537579|UMLS:C1853616	gard_rare
MONDO:0008005	biolink:Disease	cardiospondylocarpofacial syndrome	Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.	GARD:0002362|OMIM:157800|UMLS:CN204053|Orphanet:3238|MESH:C563572|SCTID:720612000	mondo.json	Forney Robinson Pascoe syndrome|mitral regurgitation-deafness-skeletal anomalies syndrome|congenital heart disease, deafness, and skeletal malformations|CSCF|Forney-Robinson-Pascoe syndrome|Forney syndrome|cardiospondylocarpofacial syndrome|mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones	http://purl.obolibrary.org/obo/MONDO_0008005	UMLS:CN204053|Orphanet:3238|http://identifiers.org/snomedct/720612000|https://omim.org/entry/157800|http://identifiers.org/mesh/C563572	ordo_malformation_syndrome
MONDO:0008002	biolink:Disease	mirror movements 1	Any familial congenital mirror movements in which the cause of the disease is a mutation in the DCC gene.	OMIM:157600	mondo.json	DCC familial congenital mirror movements|mirror movements 1|mirror movements type 1|MRMV1|bimanual synergia|mirror movements, congenital|mirror movements 1 and/Or agenesis of the corpus callosum|familial congenital mirror movements caused by mutation in DCC	http://purl.obolibrary.org/obo/MONDO_0008002	https://omim.org/entry/157600	
MONDO:0008003	biolink:Disease	autosomal dominant progressive external ophthalmoplegia	Autosomal dominant form of progressive external ophthalmoplegia.	UMLS:CN202062|Orphanet:254892|MESH:C563575	mondo.json	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|adPEO|PEOA1|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1|progressive external ophthalmoplegia, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008003	UMLS:CN202062|Orphanet:254892|http://identifiers.org/mesh/C563575	ordo_disease
MONDO:0011639	biolink:Disease	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene.	OMIM:606164|UMLS:C4225411|UMLS:C1853576	mondo.json	RPS28 Diamond-Blackfan anemia|DBA15|Diamond Blackfan anemia 15 with mandibulofacial dysostosis|Diamond-Blackfan anemia caused by mutation in RPS28|Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	http://purl.obolibrary.org/obo/MONDO_0011639	https://omim.org/entry/606164|UMLS:C4225411|UMLS:C1853576	
MONDO:0008000	biolink:Disease	migraine with or without aura, susceptibility to, 1		ICD9:346.80|OMIM:157300|ICD9:346.90|SCTID:37796009	mondo.json	migraine without aura, susceptibility to|migraine, susceptibility to|Mgau|migraine with or without aura, susceptibility to, 1|migraine with or without aura, susceptibility to, type 1|Mgr1|migraine|migraine, resistance to	http://purl.obolibrary.org/obo/MONDO_0008000	http://identifiers.org/snomedct/37796009|https://omim.org/entry/157300	predisposition
MONDO:0008001	biolink:Disease	milia, multiple eruptive		MESH:C562823|UMLS:C0343079|OMIM:157400|SCTID:238749001	mondo.json	MEM|milia, multiple eruptive	http://purl.obolibrary.org/obo/MONDO_0008001	http://identifiers.org/mesh/C562823|UMLS:C0343079|http://identifiers.org/snomedct/238749001|https://omim.org/entry/157400	
HGNC:3176	biolink:NamedThing	EDN1			mondo.json		http://identifiers.org/hgnc/3176		
UBERON:0007289	biolink:AnatomicalEntity	presumptive rhombomere 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007289		
MONDO:0011641	biolink:Disease	baculum, congenital absence of		OMIM:606174	mondo.json	Os penis, congenital absence of|baculum, congenital absence of	http://purl.obolibrary.org/obo/MONDO_0011641	https://omim.org/entry/606174	
UBERON:0007288	biolink:AnatomicalEntity	presumptive forebrain midbrain boundary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007288		
MONDO:0011640	biolink:Disease	genitopatellar syndrome	Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.	UMLS:C1853566|GARD:0010994|OMIM:606170|MESH:C565255|SCTID:702367005|Orphanet:85201|ICD9:759.89	mondo.json	GENITOPATELLAR syndrome|genitopatellar syndrome|absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and intellectual disability|absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and mental retardation|absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome|GTPTS	http://purl.obolibrary.org/obo/MONDO_0011640	Orphanet:85201|http://identifiers.org/snomedct/702367005|http://identifiers.org/mesh/C565255|UMLS:C1853566|https://omim.org/entry/606170	gard_rare|ordo_malformation_syndrome
MONDO:0011643	biolink:Disease	obsolete permanent neonatal diabetes mellitus			mondo.json		http://purl.obolibrary.org/obo/MONDO_0011643		
MONDO:0011642	biolink:Disease	carnitine acetyltransferase deficiency	A disease arising from a defect of carnitine acetyltransferase causing disruption of whole-body glucose homeostasis and muscle-specific loss of function results in reduced metabolic control, which resembles the insulin resistant state.	UMLS:CN035113|SCTID:124257002|GTR:AN0098795|GARD:0008602|GTR:AN0098794|UMLS:C1443228|OMIM:606175|MESH:C563249|ICD9:277.6	mondo.json	Acetyl-carnitine deficiency|CrAT|acetyl-carnitine deficiency|carnitine acetyltransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0011642	http://identifiers.org/mesh/C563249|http://identifiers.org/snomedct/124257002|UMLS:C1443228|UMLS:CN035113|https://omim.org/entry/606175	gard_rare
UBERON:0007285	biolink:AnatomicalEntity	presumptive paraxial mesoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007285		
MONDO:0011645	biolink:Disease	obsolete aneurysmal bone cysts			mondo.json		http://purl.obolibrary.org/obo/MONDO_0011645		
UBERON:0007284	biolink:AnatomicalEntity	presumptive neural plate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007284		
MONDO:0011644	biolink:Disease	pars planitis	An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders.	OMIM:606177|MESH:D015868|GARD:0007339|EFO:1001088|DOID:12731|MedDRA:10034052|SCTID:314428001|ICD9:363.21|UMLS:C0030593|NCIT:C34903	mondo.json	pars plana of ciliary bodyitis|pars planitis|pars plana of ciliary body inflammation|familial pars planitis (subtype)|peripheral retinal inflammation|inflammation of pars plana of ciliary body|posterior cyclitis	http://purl.obolibrary.org/obo/MONDO_0011644	https://omim.org/entry/606177|http://identifiers.org/mesh/D015868|UMLS:C0030593|NCIT:C34903|http://identifiers.org/snomedct/314428001|DOID:12731	
UBERON:0019261	biolink:AnatomicalEntity	white matter of forebrain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019261		
MONDO:0023616	biolink:Disease	obsolete familial leiomyomatosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0023616		
MONDO:0023619	biolink:Disease	lentigo maligna melanoma	Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinnedadults. The average age of diagnosis is65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible.	SCTID:302837001|GARD:0009962|NCIT:C9151|ICD9:172.8|UMLS:C2739810|ONCOTREE:SKLMM|ICDO:8742/3	mondo.json	malignant lentigo melanoma|LMM|Hutchison melanotic freckle|lentigo maligna melanoma|SKLMM	http://purl.obolibrary.org/obo/MONDO_0023619	http://identifiers.org/snomedct/302837001|UMLS:C2739810|NCIT:C9151	gard_rare
HGNC:3179	biolink:NamedThing	EDNRA			mondo.json		http://identifiers.org/hgnc/3179		
HGNC:3178	biolink:NamedThing	EDN3			mondo.json		http://identifiers.org/hgnc/3178		
UBERON:0019258	biolink:AnatomicalEntity	white matter of hindbrain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019258		
MONDO:0011625	biolink:Disease	autosomal dominant nonsyndromic hearing loss 18	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22.	DOID:0110549|MESH:C565267|UMLS:C1853760|OMIM:606012	mondo.json	autosomal dominant nonsyndromic deafness type 18|autosomal dominant nonsyndromic deafness 18|DFNA18|autosomal dominant deafness 18|deafness, autosomal dominant 18	http://purl.obolibrary.org/obo/MONDO_0011625	https://omim.org/entry/606012|http://identifiers.org/mesh/C565267|DOID:0110549|UMLS:C1853760	
UBERON:0007271	biolink:AnatomicalEntity	appendage musculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007271		
MONDO:0011624	biolink:Disease	transaldolase deficiency	Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.	MESH:C563207|ICD9:277.6|Orphanet:101028|GARD:0010445|UMLS:C1291329|SCTID:124252008|OMIM:606003	mondo.json	transaldolase deficiency|Eyaid syndrome|Taldo deficiency|TALDO deficiency	http://purl.obolibrary.org/obo/MONDO_0011624	https://omim.org/entry/606003|http://identifiers.org/snomedct/124252008|http://identifiers.org/mesh/C563207|Orphanet:101028|UMLS:C1291329	ordo_disease|gard_rare
UBERON:0007270	biolink:AnatomicalEntity	pelvic appendage musculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007270		
MONDO:0011627	biolink:Disease	autism, susceptibility to, 5		UMLS:C1853755|OMIM:606053	mondo.json	intellectual developmental disorder with autism and speech delay|autism-related speech delay|phrase speech delay, autism-related|AUTS5|autism, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0011627	UMLS:C1853755|https://omim.org/entry/606053	predisposition
MONDO:0011626	biolink:Disease	acromegaloid features, overgrowth, cleft palate, and hernia		GARD:0010194|UMLS:C1853757|MESH:C535656|OMIM:606049	mondo.json	Aoch|acromegaloid features, overgrowth, cleft palate, and hernia|acromegaloid features, overgrowth, cleft palate and hernia	http://purl.obolibrary.org/obo/MONDO_0011626	UMLS:C1853757|https://omim.org/entry/606049|http://identifiers.org/mesh/C535656	gard_rare
GO:1904018	biolink:NamedThing	positive regulation of vasculature development	Any process that activates or increases the frequency, rate or extent of vasculature development.		mondo.json	upregulation of vasculature development|up-regulation of vascular system development|up regulation of vascular system development|up-regulation of vasculature development|positive regulation of vascular system development|up regulation of vasculature development|activation of vasculature development|upregulation of vascular system development|activation of vascular system development	http://purl.obolibrary.org/obo/GO_1904018		
MONDO:0011629	biolink:Disease	MOGS-congenital disorder of glycosylation	MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).	Orphanet:79330|OMIM:606056|GARD:0010767|UMLS:C1853736|DOID:0070254|SCTID:725028009|MESH:C565264	mondo.json	MOGS-congenital disorder of glycosylation|CDG IIb|congenital disorder of glycosylation type IIb|CDG syndrome type IIb|congenital disorder of glycosylation type 2b|GCS1-CDG|congenital disorder of glycosylation, type IIb|glucosidase 1 deficiency|CDG2B|carbohydrate deficient glycoprotein syndrome type IIb|CDG-IIb|MOGS-CDG (CDG-IIb)|CDG 2B|MOGS-CDG	http://purl.obolibrary.org/obo/MONDO_0011629	UMLS:C1853736|DOID:0070254|https://omim.org/entry/606056|http://identifiers.org/mesh/C565264|Orphanet:79330|http://identifiers.org/snomedct/725028009	ordo_disease
MONDO:0011628	biolink:Disease	propionic acidemia	Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.	UMLS:C0268579|ICD10CM:E71.121|Orphanet:35|OMIM:606054|NCIT:C85030|SCTID:69080001|GARD:0000467|MESH:D056693|DOID:14701	mondo.json	propionic aciduria|prop|propionyl-CoA carboxylase deficiency|ketotic hyperglycinemia|propionic acidemia|Glycinemia, ketotic|propionyl-Coa carboxylase deficiency|GLYCINEMIA, ketotic|hyperglycinemia with ketoacidosis and leukopenia|Propionicacidemia|ketotic II glycinemia|ketotic glycinemia|PCC deficiency	http://purl.obolibrary.org/obo/MONDO_0011628	http://purl.bioontology.org/ontology/ICD10CM/E71.121|Orphanet:35|UMLS:C0268579|https://omim.org/entry/606054|http://identifiers.org/snomedct/69080001|http://identifiers.org/mesh/D056693|DOID:14701|NCIT:C85030	ordo_disease|gard_rare
UBERON:0007278	biolink:AnatomicalEntity	presumptive sinus venosus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007278		
MONDO:0011630	biolink:Disease	retinitis pigmentosa 28	Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene.	UMLS:C1419614|GARD:0010394|DOID:0110365|ICD10CM:H35.5|OMIM:606068	mondo.json	retinitis pigmentosa caused by mutation in FAM161A|RP 28|retinitis pigmentosa 28|RP28|FAM161A retinitis pigmentosa|retinitis pigmentosa type 28	http://purl.obolibrary.org/obo/MONDO_0011630	UMLS:C1419614|DOID:0110365|https://omim.org/entry/606068	gard_rare
UBERON:0007277	biolink:AnatomicalEntity	presumptive hindbrain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007277		
MONDO:0011632	biolink:Disease	amyotrophic lateral sclerosis type 21	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene.	OMIM:606070|Orphanet:600|DOID:0060212|NCIT:C168755	mondo.json	amyotrophic lateral sclerosis type 21|vocal cord and pharyngeal dysfunction with distal myopathy, formerly|amyotrophic lateral sclerosis 21|myopathy, distal, 2, formerly|vocal cord and pharyngeal dysfunction with distal myopathy|myopathy, distal, 2|ALS21|MATR3 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis caused by mutation in MATR3	http://purl.obolibrary.org/obo/MONDO_0011632	https://omim.org/entry/606070|DOID:0060212|NCIT:C168755	
MONDO:0011631	biolink:Disease	hemochromatosis type 4	Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.	UMLS:C1853733|MESH:C537249|DOID:0111028|SCTID:719975002|GARD:0010094|Orphanet:139491|OMIM:606069	mondo.json	hereditary hemochromatosis caused by mutation in SLC40A1|hemochromatosis due to defect in ferroportin|hemochromatosis, autosomal dominant|SLC40A1 hereditary hemochromatosis|HFE4|hemochromatosis, type 4|autosomal dominant hereditary hemochromatosis|ferroportin disease	http://purl.obolibrary.org/obo/MONDO_0011631	https://omim.org/entry/606069|http://identifiers.org/mesh/C537249|DOID:0111028|Orphanet:139491|UMLS:C1853733|http://identifiers.org/snomedct/719975002	ordo_disease|gard_rare
HGNC:3182	biolink:NamedThing	PHC1			mondo.json		http://identifiers.org/hgnc/3182		
MONDO:0011634	biolink:Disease	rippling muscle disease	A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch	MedDRA:10069417|ICD9:359.29|SCTID:709281006	mondo.json		http://purl.obolibrary.org/obo/MONDO_0011634	http://identifiers.org/snomedct/709281006	
UBERON:0007273	biolink:AnatomicalEntity	pelvic appendage skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007273		
MONDO:0011633	biolink:Disease	Charcot-Marie-Tooth disease axonal type 2C	Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.	SCTID:717010007|DOID:0110182|Orphanet:99937|OMIM:606071|GARD:0001250	mondo.json	CMT 2C|CMT2C|Charcot Marie Tooth disease type 2C|autosomal cominant axonal Charcot-Marie-Tooth disease type 2C|hereditary motor and sensory neuropathy, type 2C|HMSN 2 C|hereditary motor and sensory neuropathy type IIc|TRPV4 Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth neuropathy type 2C|Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4|Charcot-Marie-Tooth disease type 2C|autosomal dominant Charcot-Marie-Tooth disease type 2C|Charcot-Marie-Tooth neuropathy, type 2C|HMSN2C|hereditary motor and sensory neuropathy 2 C|HMSN 2C|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2C|Charcot-Marie-Tooth disease, axonal, type 2C|hereditary motor and sensory neuropathy, type IIC	http://purl.obolibrary.org/obo/MONDO_0011633	https://omim.org/entry/606071|http://identifiers.org/snomedct/717010007|Orphanet:99937|DOID:0110182	gard_rare|ordo_disease
UBERON:0007272	biolink:AnatomicalEntity	pectoral appendage skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007272		
HGNC:3180	biolink:NamedThing	EDNRB			mondo.json		http://identifiers.org/hgnc/3180		
MONDO:0023603	biolink:Disease	hereditary disorder of connective tissue	An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.	NCIT:C97075|UMLS:C0410787|SCTID:363045008	mondo.json	Hereditary Connective Tissue Disorder|connective tissue hereditary disorder|inherited disorder of connective tissue|hereditary connective tissue disorder|Mendelian connective tissue disorder|Inherited disorder of connective tissue	http://purl.obolibrary.org/obo/MONDO_0023603	http://identifiers.org/snomedct/363045008|UMLS:C0410787|NCIT:C97075	
MONDO:0023605	biolink:Disease	Laugier-Hunziker syndrome		ICD9:528.9|UMLS:C0406425|GARD:0009669|SCTID:238706002	mondo.json	Laugier and Hunziker pigmentation|LHS|Laugier-Hunziker syndrome	http://purl.obolibrary.org/obo/MONDO_0023605	UMLS:C0406425|http://identifiers.org/snomedct/238706002	gard_rare
MONDO:0023607	biolink:Disease	Laurence-Prosser-Rocker syndrome		MESH:C537882|OMIM:235750|UMLS:C2931651|GARD:0003201	mondo.json	Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly|Hirschsprung's disease associated with ulnar polydactyly, polysyndactyly of big toes and ventricular septal defect	http://purl.obolibrary.org/obo/MONDO_0023607	UMLS:C2931651|http://identifiers.org/mesh/C537882	gard_rare
MONDO:0023609	biolink:Disease	le Marec-Bracq-Picaud syndrome		UMLS:C2931385|GARD:0000171|MESH:C536997	mondo.json	complex malformation syndrome with brachymesomelia	http://purl.obolibrary.org/obo/MONDO_0023609	UMLS:C2931385|http://identifiers.org/mesh/C536997	gard_rare
MONDO:0023601	biolink:Disease	non-classic congenital adrenal hyperplasia	A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement.	NCIT:C131442|MESH:C537877|UMLS:C0342467	mondo.json	attenuated congenital adrenal hyperplasia|late-onset congenital adrenal hyperplasia|non classic congenital adrenal hyperplasia|LOCAH|NCCAH|non-classic congenital adrenal hyperplasia	http://purl.obolibrary.org/obo/MONDO_0023601	http://identifiers.org/mesh/C537877|UMLS:C0342467|NCIT:C131442	
UBERON:0019241	biolink:AnatomicalEntity	pedal digit 1 or 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019241		
MONDO:0011614	biolink:Disease	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.	Orphanet:35701|UMLS:C2751532|GARD:0002712|OMIM:605911|MESH:C567784|SCTID:725286002	mondo.json	HMG-CoA synthase-2 deficiency|3-hydroxy-3-methylglutaryl-CoA synthase deficiency|Hmgcs2 deficiency|mitochondrial HMG-Coa synthase deficiency|3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency|HMG CoA synthetase deficiency|HMG-CoA synthase deficiency|HMGCS2D	http://purl.obolibrary.org/obo/MONDO_0011614	Orphanet:35701|http://identifiers.org/mesh/C567784|https://omim.org/entry/605911|http://identifiers.org/snomedct/725286002|UMLS:C2751532	ordo_disease|gard_rare
MONDO:0011613	biolink:Disease	autosomal recessive early-onset Parkinson disease 6	Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene.	DOID:0060369|OMIM:605909|MESH:C565276	mondo.json	Parkinson disease 6, autosomal recessive early-onset|early-onset Parkinson disease 6|PINK1 Parkinson disease|Parkinson disease, autosomal recessive early-onset, digenic, Pink1/Dj1|Parkinson disease 6, late-onset, susceptibility to|Parkinson disease 6, early onset|Parkinson disease caused by mutation in PINK1|autosomal recessive early-onset Parkinson disease type 6|autosomal recessive early-onset Parkinson's disease 6|autosomal recessive early-onset Parkinson disease 6|Parkinson disease 6, early-onset|PARK6	http://purl.obolibrary.org/obo/MONDO_0011613	http://identifiers.org/mesh/C565276|https://omim.org/entry/605909|DOID:0060369	
MONDO:0011616	biolink:Disease	holoprosencephaly 6	A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3.	DOID:0110874|MESH:C565274|UMLS:C1853830|OMIM:605934	mondo.json	holoprosencephaly type 6|holoprosencephaly 6|HPE6	http://purl.obolibrary.org/obo/MONDO_0011616	DOID:0110874|UMLS:C1853830|http://identifiers.org/mesh/C565274|https://omim.org/entry/605934	
MONDO:0011615	biolink:Disease	East Texas bleeding disorder		Orphanet:391320|OMIM:605913|UMLS:C1853831|MESH:C565275	mondo.json	Bdet|bleeding disorder, EAST Texas type	http://purl.obolibrary.org/obo/MONDO_0011615	UMLS:C1853831|Orphanet:391320|http://identifiers.org/mesh/C565275|https://omim.org/entry/605913	ordo_disease
MONDO:0011618	biolink:Disease	liver fibrocystic disease and polydactyly		MESH:C565272|UMLS:C1853827|OMIM:605944	mondo.json	liver fibrocystic disease and polydactyly	http://purl.obolibrary.org/obo/MONDO_0011618	UMLS:C1853827|http://identifiers.org/mesh/C565272|https://omim.org/entry/605944	
MONDO:0011617	biolink:Disease	arthropathy, erosive		MESH:C565273|OMIM:605935|UMLS:C1853829	mondo.json	arthropathy, erosive	http://purl.obolibrary.org/obo/MONDO_0011617	UMLS:C1853829|http://identifiers.org/mesh/C565273|https://omim.org/entry/605935	
MONDO:0011619	biolink:Disease	crumpled helices and small mouth		OMIM:605945|MESH:C536217|UMLS:C1853826|GARD:0010078	mondo.json	crumpled helices and small mouth|sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay	http://purl.obolibrary.org/obo/MONDO_0011619	UMLS:C1853826|http://identifiers.org/mesh/C536217|https://omim.org/entry/605945	gard_rare
UBERON:0007267	biolink:AnatomicalEntity	trachea pre-cartilage rings			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007267		
MONDO:0011621	biolink:Disease	acropectoral syndrome	Acro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36.	UMLS:C1853812|GARD:0008485|OMIM:605967|MESH:C535664|Orphanet:85203|SCTID:720412009	mondo.json	syndactyly, preaxial polydactyly and sternal deformity|syndactyly-preaxial polydactyly-sternal deformity syndrome|syndactyly, preaxial polydactyly, and sternal deformity|acropectoral syndrome|acro-pectoral syndrome|ACRP syndrome|ACRPS|Dundar Acropectoral syndrome	http://purl.obolibrary.org/obo/MONDO_0011621	http://identifiers.org/snomedct/720412009|Orphanet:85203|https://omim.org/entry/605967|http://identifiers.org/mesh/C535664|UMLS:C1853812	ordo_malformation_syndrome|gard_rare
MONDO:0011620	biolink:Disease	metaphyseal dysplasia, Braun-Tinschert type	Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.	OMIM:605946|Orphanet:85188|SCTID:717221005|UMLS:C1853825|MESH:C565271	mondo.json	metaphyseal dysplasia, Braun-Tinschert type	http://purl.obolibrary.org/obo/MONDO_0011620	http://identifiers.org/snomedct/717221005|Orphanet:85188|http://identifiers.org/mesh/C565271|https://omim.org/entry/605946|UMLS:C1853825	ordo_malformation_syndrome
MONDO:0011623	biolink:Disease	obsolete spinocerebellar ataxia, autosomal recessive 1			mondo.json		http://purl.obolibrary.org/obo/MONDO_0011623		
HGNC:3192	biolink:NamedThing	EEF1A2			mondo.json		http://identifiers.org/hgnc/3192		
MONDO:0011622	biolink:Disease	nephrolithiasis, uric acid, susceptibility to		OMIM:605990	mondo.json	nephrolithiasis, uric acid, susceptibility to|UAN|susceptibility to uric acid nephrolithiasis|urolithiasis, uric acid, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0011622	https://omim.org/entry/605990	predisposition
UBERON:0007269	biolink:AnatomicalEntity	pectoral appendage musculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007269		
GO:0030813	biolink:NamedThing	positive regulation of nucleotide catabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of nucleotides.		mondo.json	upregulation of nucleotide catabolic process|positive regulation of nucleotide breakdown|positive regulation of nucleotide catabolism|up regulation of nucleotide catabolic process|stimulation of nucleotide catabolic process|up-regulation of nucleotide catabolic process|activation of nucleotide catabolic process|positive regulation of nucleotide degradation	http://purl.obolibrary.org/obo/GO_0030813		
GO:0030811	biolink:NamedThing	regulation of nucleotide catabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of nucleotides.		mondo.json	regulation of nucleotide catabolism|regulation of nucleotide degradation|regulation of nucleotide breakdown	http://purl.obolibrary.org/obo/GO_0030811		
GO:0030812	biolink:NamedThing	negative regulation of nucleotide catabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of nucleotides.		mondo.json	negative regulation of nucleotide breakdown|down regulation of nucleotide catabolic process|inhibition of nucleotide catabolic process|down-regulation of nucleotide catabolic process|negative regulation of nucleotide degradation|downregulation of nucleotide catabolic process|negative regulation of nucleotide catabolism	http://purl.obolibrary.org/obo/GO_0030812		
GO:0005856	biolink:NamedThing	cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.		mondo.json		http://purl.obolibrary.org/obo/GO_0005856		
GO:0030810	biolink:NamedThing	positive regulation of nucleotide biosynthetic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nucleotides.		mondo.json	upregulation of nucleotide biosynthetic process|positive regulation of nucleotide synthesis|positive regulation of nucleotide formation|up-regulation of nucleotide biosynthetic process|up regulation of nucleotide biosynthetic process|positive regulation of nucleotide biosynthesis|positive regulation of nucleotide anabolism|activation of nucleotide biosynthetic process|stimulation of nucleotide biosynthetic process	http://purl.obolibrary.org/obo/GO_0030810		
NCBITaxon:5587	biolink:OrganismalEntity	Rhinocladiella		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5587		
UBERON:0009953	biolink:AnatomicalEntity	post-embryonic organism			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009953		
UBERON:0009955	biolink:AnatomicalEntity	neurogenic placode			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009955		
UBERON:0034903	biolink:AnatomicalEntity	left atrium endocardium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034903		
UBERON:0009958	biolink:AnatomicalEntity	bladder lumen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009958		
UBERON:0009959	biolink:AnatomicalEntity	lumen of oropharynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009959		
UBERON:0034905	biolink:AnatomicalEntity	gland lumen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034905		
NCBITaxon:5597	biolink:OrganismalEntity	Scedosporium boydii		PMID:18077629|GC_ID:1	mondo.json	Cephalosporium boydii|Pseudallescheria boydii|Allescheria boydii	http://purl.obolibrary.org/obo/NCBITaxon_5597		
UBERON:0034907	biolink:AnatomicalEntity	pineal parenchyma			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034907		
UBERON:0034908	biolink:AnatomicalEntity	scapular muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034908		
UBERON:0034909	biolink:AnatomicalEntity	intermaxillary suture			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034909		
NCBITaxon:5592	biolink:OrganismalEntity	Microascales		GC_ID:1	mondo.json	Plectomycetes	http://purl.obolibrary.org/obo/NCBITaxon_5592		
NCBITaxon:5593	biolink:OrganismalEntity	Microascaceae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5593		
NCBITaxon:5598	biolink:OrganismalEntity	Alternaria		PMID:24014900|GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5598		
GO:0030808	biolink:NamedThing	regulation of nucleotide biosynthetic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nucleotides.		mondo.json	regulation of nucleotide formation|regulation of nucleotide anabolism|regulation of nucleotide biosynthesis|regulation of nucleotide synthesis	http://purl.obolibrary.org/obo/GO_0030808		
GO:0030809	biolink:NamedThing	negative regulation of nucleotide biosynthetic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nucleotides.		mondo.json	negative regulation of nucleotide synthesis|negative regulation of nucleotide formation|down-regulation of nucleotide biosynthetic process|negative regulation of nucleotide biosynthesis|down regulation of nucleotide biosynthetic process|inhibition of nucleotide biosynthetic process|downregulation of nucleotide biosynthetic process|negative regulation of nucleotide anabolism	http://purl.obolibrary.org/obo/GO_0030809		
GO:0042816	biolink:NamedThing	vitamin B6 metabolic process	The chemical reactions and pathways involving any of the vitamin B6 compounds: pyridoxal, pyridoxamine and pyridoxine and the active form, pyridoxal phosphate.		mondo.json	vitamin B6 metabolism	http://purl.obolibrary.org/obo/GO_0042816		
HGNC:5716	biolink:NamedThing	IGKC			mondo.json		http://identifiers.org/hgnc/5716		
HP:0002597	biolink:PhenotypicFeature	Abnormality of the vasculature	An abnormality of the vasculature.	UMLS:C0241657	mondo.json	Vascular abnormalities|Abnormality of the vasculature|Abnormality of blood vessels	http://purl.obolibrary.org/obo/HP_0002597		
UBERON:0034921	biolink:AnatomicalEntity	multi organ part structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034921		
UBERON:0034922	biolink:AnatomicalEntity	cell cluster			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034922		
UBERON:0034923	biolink:AnatomicalEntity	disconnected anatomical group			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034923		
UBERON:0010913	biolink:AnatomicalEntity	vertebral element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010913		
UBERON:0034925	biolink:AnatomicalEntity	anatomical collection			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034925		
UBERON:0010911	biolink:AnatomicalEntity	ossicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010911		
UBERON:0034926	biolink:AnatomicalEntity	anatomical row			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034926		
HGNC:5724	biolink:NamedThing	RBPJ			mondo.json		http://identifiers.org/hgnc/5724		
UBERON:0010912	biolink:AnatomicalEntity	subdivision of skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010912		
UBERON:0034928	biolink:AnatomicalEntity	dorsal surface of penis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034928		
UBERON:0034929	biolink:AnatomicalEntity	external soft tissue zone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034929		
GO:0042827	biolink:NamedThing	platelet dense granule	Electron-dense granule occurring in blood platelets that stores and secretes adenosine nucleotides and serotonin. They contain a highly condensed core consisting of serotonin, histamine, calcium, magnesium, ATP, ADP, pyrophosphate and membrane lysosomal proteins.		mondo.json	bull's eye body|platelet dense body	http://purl.obolibrary.org/obo/GO_0042827		
NCBITaxon:5579	biolink:OrganismalEntity	Aureobasidium		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5579		
GO:0005840	biolink:NamedThing	ribosome	An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins.		mondo.json	free ribosome|membrane bound ribosome|ribosomal RNA	http://purl.obolibrary.org/obo/GO_0005840		
UBERON:0009917	biolink:AnatomicalEntity	kidney corticomedullary boundary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009917		
UBERON:0009919	biolink:AnatomicalEntity	ureter smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009919		
UBERON:0034940	biolink:AnatomicalEntity	venous sinus cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034940		
UBERON:0009920	biolink:AnatomicalEntity	optic neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009920		
UBERON:0034932	biolink:AnatomicalEntity	epithelium of biliary system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034932		
UBERON:0034933	biolink:AnatomicalEntity	layer of smooth muscle tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034933		
UBERON:0034936	biolink:AnatomicalEntity	pars plana of ciliary body			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034936		
NCBITaxon:5583	biolink:OrganismalEntity	Exophiala		GC_ID:1	mondo.json	Nadsoniella|Wangiella	http://purl.obolibrary.org/obo/NCBITaxon_5583		
UBERON:0010905	biolink:AnatomicalEntity	clavicle bone primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010905		
UBERON:0019310	biolink:AnatomicalEntity	glossopharyngeal nerve root			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019310		
UBERON:0019311	biolink:AnatomicalEntity	root of olfactory nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019311		
CHEBI:29337	biolink:ChemicalSubstance	azanide			mondo.json	amide|dihydridonitrate(1-)|NH2(-)|azanide	http://purl.obolibrary.org/obo/CHEBI_29337		
CHEBI:32988	biolink:ChemicalSubstance	amide	An amide is a derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group.		mondo.json	amides|Amide	http://purl.obolibrary.org/obo/CHEBI_32988		
UBERON:0019319	biolink:AnatomicalEntity	exocrine gland of integumental system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019319		
UBERON:0010982	biolink:AnatomicalEntity	latissimus dorsi pre-muscle mass			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010982		
UBERON:0010983	biolink:AnatomicalEntity	levator scapulae pre-muscle mass			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010983		
UBERON:0019315	biolink:AnatomicalEntity	meibum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019315		
UBERON:0010977	biolink:AnatomicalEntity	flexor pre-muscle mass			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010977		
OBO:cl#lacks_plasma_membrane_part	biolink:NamedThing	lacks_plasma_membrane_part			mondo.json		http://purl.obolibrary.org/obo/cl#lacks_plasma_membrane_part		
UBERON:0019307	biolink:AnatomicalEntity	epithelium of external nose			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019307		
CHEBI:29347	biolink:ChemicalSubstance	monocarboxylic acid amide	A carboxamide derived from a monocarboxylic acid.		mondo.json	monocarboxylic acid amides	http://purl.obolibrary.org/obo/CHEBI_29347		
CHEBI:29340	biolink:ChemicalSubstance	hydridonitrate(2-)	A divalent inorganic anion resulting from the removal of two protons from ammonia.		mondo.json	hydridonitrate(2-)|azanediide|imide|NH(2-)	http://purl.obolibrary.org/obo/CHEBI_29340		
UBERON:0019306	biolink:AnatomicalEntity	nose epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019306		
UBERON:0019303	biolink:AnatomicalEntity	occipital sulcus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019303		
UBERON:0019304	biolink:AnatomicalEntity	sensory organ epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019304		
UBERON:0010963	biolink:AnatomicalEntity	trunk and cervical myotome group			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010963		
CHEBI:17334	biolink:ChemicalSubstance	penicillin	Any member of the group of substituted penams containing two methyl substituents at position 2, a carboxylate substituent at position 3 and a carboxamido group at position 6.		mondo.json	Penicillin|penicillins|penicillins	http://purl.obolibrary.org/obo/CHEBI_17334		
UBERON:0007329	biolink:AnatomicalEntity	pancreatic duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007329		
GO:0005829	biolink:NamedThing	cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.		mondo.json		http://purl.obolibrary.org/obo/GO_0005829		
UBERON:0007324	biolink:AnatomicalEntity	pancreatic lobule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007324		
UBERON:0009978	biolink:AnatomicalEntity	epicondyle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009978		
GO:0042866	biolink:NamedThing	pyruvate biosynthetic process	The chemical reactions and pathways resulting in the formation of pyruvate, 2-oxopropanoate.		mondo.json	pyruvate biosynthesis|pyruvate anabolism|pyruvate synthesis|pyruvate formation	http://purl.obolibrary.org/obo/GO_0042866		
UBERON:0010955	biolink:AnatomicalEntity	trapezius pre-muscle mass			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010955		
UBERON:0010959	biolink:AnatomicalEntity	craniocervical muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010959		
UBERON:0009970	biolink:AnatomicalEntity	epithelium of pancreatic duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009970		
UBERON:0009972	biolink:AnatomicalEntity	ureteropelvic junction			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009972		
UBERON:0009973	biolink:AnatomicalEntity	ureterovesical junction			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009973		
UBERON:0009974	biolink:AnatomicalEntity	lumen of Rathke's pouch			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009974		
NCBITaxon:88456	biolink:OrganismalEntity	Cyclospora cayetanensis		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_88456		
UBERON:0007301	biolink:AnatomicalEntity	appendage blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007301		
UBERON:0007300	biolink:AnatomicalEntity	pectoral appendage blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007300		
CHEBI:17359	biolink:ChemicalSubstance	sulfite	A sulfur oxoanion that is the conjugate base of hydrogen sulfite (H2SO3).		mondo.json	sulfite|trioxidosulfate(2-)|SO3(2-)|sulphite|[SO3](2-)|SO3|trioxosulfate(2-)|SULFITE ION|trioxosulfate(IV)	http://purl.obolibrary.org/obo/CHEBI_17359		
NCBITaxon:122277	biolink:OrganismalEntity	Pectobacterium		PMID:11155980|GC_ID:11|PMID:9779605	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_122277		
UBERON:0007307	biolink:AnatomicalEntity	pronephric glomerular basement membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007307		
UBERON:0010948	biolink:AnatomicalEntity	cleidooccipital muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010948		
UBERON:0007306	biolink:AnatomicalEntity	pronephric glomerular capillary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007306		
UBERON:0010949	biolink:AnatomicalEntity	sternooccipital muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010949		
UBERON:0007304	biolink:AnatomicalEntity	appendage vasculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007304		
UBERON:0007303	biolink:AnatomicalEntity	pharyngeal vasculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007303		
UBERON:0007302	biolink:AnatomicalEntity	pectoral appendage vasculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007302		
MONDO:0021097	biolink:Disease	intraductal breast papilloma	A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units.	SCTID:99571000119102|NCIT:C3863|EFO:1000306|DOID:1626|SCTID:254848002	mondo.json	ductal breast papilloma|intraductal papilloma of the breast|duct papilloma of breast|breast duct papilloma|breast papilloma|mammary duct papilloma|papilloma of the breast|duct papilloma of the breast|papilloma of breast|intraductal breast papilloma|intraductal papilloma of breast	http://purl.obolibrary.org/obo/MONDO_0021097	http://identifiers.org/snomedct/99571000119102|DOID:1626|NCIT:C3863|http://identifiers.org/snomedct/254848002	
MONDO:0021096	biolink:Disease	papillary epithelial neoplasm		UMLS:C1335324|NCIT:C8429	mondo.json	papillary epithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0021096	NCIT:C8429|UMLS:C1335324	
MONDO:0045063	biolink:Disease	major salivary gland adenoid cystic carcinoma	An aggressive carcinoma that arises from the major salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.	NCIT:C5905|UMLS:C1334548	mondo.json	adenoid cystic carcinoma of the major salivary gland|major salivary gland adenoid cystic carcinoma|major salivary gland adenoid cystic cancer|adenoid cystic carcinoma of major salivary gland	http://purl.obolibrary.org/obo/MONDO_0045063	NCIT:C5905|UMLS:C1334548	
MONDO:0021095	biolink:Disease	parkinsonian disorder	A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA.	MESH:D020734	mondo.json		http://purl.obolibrary.org/obo/MONDO_0021095	http://identifiers.org/mesh/D020734	
MONDO:0021094	biolink:Disease	immunodeficiency disease	Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.	SCTID:234532001|UMLS:C0021051|NCIT:C3131|OMIMPS:300755|ICD9:279.3	mondo.json	immunodeficiency syndrome|immunodeficiency disorder|immuno-deficiency|immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0021094	http://identifiers.org/snomedct/234532001|https://omim.org/phenotypicSeries/PS300755|NCIT:C3131	
MONDO:0021093	biolink:Disease	cranioectodermal dysplasia 1	Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene.	OMIM:218330	mondo.json	Levin syndrome 1|cranioectodermal dysplasia caused by mutation in IFT122|cranioectodermal dysplasia type 1|IFT122 cranioectodermal dysplasia|CED1|Sensenbrenner syndrome|cranioectodermal dysplasia 1	http://purl.obolibrary.org/obo/MONDO_0021093	https://omim.org/entry/218330	
MONDO:0045060	biolink:Disease	intraductal cribriform breast adenocarcinoma	A ductal carcinoma in situ of the breast characterized by the presence of a cribriform architectural pattern.	ICDO:8201/2|UMLS:C1334248|NCIT:C5138	mondo.json	non-infiltrating cribriform ductal breast carcinoma|cribriform ductal breast carcinoma in situ|cribriform ductal carcinoma in situ of breast|ductal carcinoma in situ of breast with cribriform pattern|ductal carcinoma in situ of the breast with cribriform pattern|cribriform ductal carcinoma in situ of the breast|non-invasive cribriform ductal breast carcinoma|DCIS of breast with cribriform pattern|cribriform DCIS of breast|DCIS of the breast with cribriform pattern|cribriform DCIS of the breast|intraductal cribriform breast adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0045060	NCIT:C5138|UMLS:C1334248	
MONDO:0021092	biolink:Disease	fallopian tube neoplasm	A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma.	MESH:D005185|ICD9:239.5|SCTID:126916003|UMLS:C0015558|NCIT:C3032	mondo.json	tumor of the fallopian tube|fallopian tube neoplasm|tumor of fallopian tube|fallopian tube neoplasm (disease)|neoplasm of the fallopian tube|neoplasm of fallopian tube|fallopian tube tumor	http://purl.obolibrary.org/obo/MONDO_0021092	http://identifiers.org/snomedct/126916003|http://identifiers.org/mesh/D005185|NCIT:C3032|UMLS:C0015558	
MONDO:0021091	biolink:Disease	papillary cystadenoma	A serous or mucinous benign or low malignant potential cystic epithelial neoplasm. It is characterized by the presence of glandular epithelial cells forming papillary structures.	NCIT:C2974|MESH:D018292|ICDO:8450/0|UMLS:C0010636	mondo.json	cystadenoma, papillary, benign|papillary cystadenoma	http://purl.obolibrary.org/obo/MONDO_0021091	http://identifiers.org/mesh/D018292|UMLS:C0010636|NCIT:C2974	
MONDO:0021090	biolink:Disease	lipid-rich breast carcinoma	An invasive breast carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells.	UMLS:C1517894|DOID:7076|NCIT:C40365	mondo.json	lipid secreting breast carcinoma|lipid-rich breast carcinoma|breast lipid-rich carcinoma	http://purl.obolibrary.org/obo/MONDO_0021090	DOID:7076|UMLS:C1517894|NCIT:C40365	
NCBITaxon:730	biolink:OrganismalEntity	[Haemophilus] ducreyi		GC_ID:11	mondo.json	Haemophilus ducreyi|Coccobacillus ducreyi|Bacillus ulceris cancrosi	http://purl.obolibrary.org/obo/NCBITaxon_730		
HP:0002538	biolink:PhenotypicFeature	Abnormal cerebral cortex morphology	Any structural abnormality of the cerebral cortex.	UMLS:C4025701	mondo.json	Abnormality of the cerebral cortex	http://purl.obolibrary.org/obo/HP_0002538		
MONDO:0045068	biolink:Disease	minor salivary gland adenoid cystic carcinoma	An aggressive carcinoma that arises from the minor salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass.	NCIT:C5936|UMLS:C1334769	mondo.json	minor salivary gland adenoid cystic carcinoma|adenoid cystic carcinoma of minor salivary gland|adenoid cystic carcinoma of the minor salivary gland	http://purl.obolibrary.org/obo/MONDO_0045068	NCIT:C5936|UMLS:C1334769	
MONDO:0021099	biolink:Disease	intraductal papillomatosis	A neoplastic process characterized by the presence of multiple intraductal papillomas.	UMLS:C0334377|NCIT:C7363|ICDO:8505/0	mondo.json	intraductal papillomatosis|duct papillomatosis	http://purl.obolibrary.org/obo/MONDO_0021099	NCIT:C7363|UMLS:C0334377	
MONDO:0045069	biolink:Disease	minor salivary gland carcinoma	A carcinoma that arises from the minor salivary glands. Representative examples include adenoid cystic carcinoma, acinic cell carcinoma, polymorphous low grade adenocarcinoma, and mucinous adenocarcinoma.	UMLS:C1334771|NCIT:C5957	mondo.json	minor salivary gland carcinoma|minor salivary gland cancer|carcinoma of the minor salivary gland|carcinoma of minor salivary gland	http://purl.obolibrary.org/obo/MONDO_0045069	NCIT:C5957|UMLS:C1334771	
MONDO:0021098	biolink:Disease	papillomatosis	Glandular or squamous cell neoplastic proliferations characterized by the formation of multiple papillary structures diffusely involving a specific anatomic site.	NCIT:C3713	mondo.json	papillomatosis	http://purl.obolibrary.org/obo/MONDO_0021098	NCIT:C3713	
HP:0002536	biolink:PhenotypicFeature	Abnormal cortical gyration	An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.	UMLS:C1856019	mondo.json	Cerebral gyral anomalies|Gyral disorganization|Abnormal gyration	http://purl.obolibrary.org/obo/HP_0002536		
MONDO:0021086	biolink:Disease	gingival neoplasm	A benign or malignant neoplasm that affects the upper or lower gingiva.	UMLS:C0017570|NCIT:C3057|SCTID:126792007	mondo.json	tumor of the gum|gum neoplasm|tumor of gum|gingival neoplasm|gingiva neoplasm|gingival tumor|tumor of the gingiva|neoplasm of gingiva|neoplasm of the gum|gingiva tumor|neoplasm of gum|gum tumor|gingiva neoplasm (disease)|tumor of gingiva|neoplasm of the gingiva	http://purl.obolibrary.org/obo/MONDO_0021086	http://identifiers.org/snomedct/126792007|UMLS:C0017570|NCIT:C3057	
MONDO:0021085	biolink:Disease	gastric neoplasm	A benign or malignant neoplasm involving the stomach.	SCTID:126824007|EFO:0003897|MESH:D013274|UMLS:C0038356|NCIT:C3387	mondo.json	gastric neoplasm|tumor of the stomach|neoplasm of stomach|stomach neoplasm|gastric tumor|stomach neoplasm (disease)|stomach tumor|neoplasm of the stomach|tumor of stomach	http://purl.obolibrary.org/obo/MONDO_0021085	UMLS:C0038356|http://identifiers.org/snomedct/126824007|NCIT:C3387|http://identifiers.org/mesh/D013274	
MONDO:0021084	biolink:Disease	vision disorder	Any impairment to the vision.	SCTID:95677002|UMLS:C0042790|MedDRA:10047518|NCIT:C35126|MESH:D014786	mondo.json	disorder of vision|vision disorder|visual system disorder|visual Field disorder|visual disorder|disorder of visual system	http://purl.obolibrary.org/obo/MONDO_0021084	http://identifiers.org/meddra/10047518|UMLS:C0042790|http://identifiers.org/snomedct/95677002|NCIT:C35126|http://identifiers.org/mesh/D014786	
NCBITaxon:747	biolink:OrganismalEntity	Pasteurella multocida		GC_ID:11|PMID:15184562	mondo.json	Micrococcus gallicidus|Pasteurella gallicida|Pasteurella cholerae-gallinarum|Bacterium multocidum	http://purl.obolibrary.org/obo/NCBITaxon_747		
MONDO:0021083	biolink:Disease	congenital fibrosis of extraocular muscles type 1	Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene.	OMIM:135700	mondo.json	fibrosis of extraocular muscles, congenital, 3B|congenital fibrosis of extraocular muscles caused by mutation in KIF21A|KIF21A congenital fibrosis of extraocular muscles|ophthalmoplegia, congenital|fibrosis of extraocular muscles, congenital, 1|CFEOM1|blepharoptosis with absent eye movements|Feom1 locus	http://purl.obolibrary.org/obo/MONDO_0021083	https://omim.org/entry/135700	
MONDO:0045071	biolink:Disease	mycosis fungoides variant		UMLS:C1513782|NCIT:C39644	mondo.json	mycosis fungoides variant	http://purl.obolibrary.org/obo/MONDO_0045071	NCIT:C39644|UMLS:C1513782	
MONDO:0021082	biolink:Disease	Meckel diverticulum neoplasm	A neoplasm involving a Meckel's diverticulum.	UMLS:C0345839|SCTID:126836001	mondo.json	neoplasm of Meckel's diverticulum|Meckel's diverticulum tumor|Meckel's diverticulum neoplasm|tumor of Meckel's diverticulum|Meckel's diverticulum neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0021082	http://identifiers.org/snomedct/126836001|UMLS:C0345839	
GO:0030886	biolink:NamedThing	negative regulation of myeloid dendritic cell activation	Any process that stops, prevents, or reduces the frequency, rate or extent of myeloid dendritic cell activation.		mondo.json	down-regulation of myeloid dendritic cell activation|down regulation of myeloid dendritic cell activation|inhibition of myeloid dendritic cell activation|downregulation of myeloid dendritic cell activation	http://purl.obolibrary.org/obo/GO_0030886		
MONDO:0045070	biolink:Disease	digestive system melanoma	A melanoma that arises from any part of the digestive system.	UMLS:C1333798|GARD:0010409|NCIT:C7091	mondo.json	gastrointestinal melanoma|melanoma (disease) of digestive system|digestive system melanoma (disease)|digestive system melanoma	http://purl.obolibrary.org/obo/MONDO_0045070	UMLS:C1333798|NCIT:C7091	
MONDO:0021081	biolink:Disease	anti-NMDA receptor encephalitis	An autoimmune acute encephalitis caused by antibodies against the glutamate NMDA receptor. It usually affects females and in the majority of cases it is associated with the presence of a tumor, most commonly an ovarian teratoma. The presence of a tumor in patients with this form of encephalitis implies that the latter is a paraneoplastic syndrome. It is manifested with psychiatric symptoms and epileptic seizures. It is a potentially lethal disorder; however, it is usually reversible with the prompt removal of the tumor.	MESH:D060426|NCIT:C94853	mondo.json	anti-NMDA receptor encephalitis	http://purl.obolibrary.org/obo/MONDO_0021081	http://identifiers.org/mesh/D060426|NCIT:C94853	
GO:0030887	biolink:NamedThing	positive regulation of myeloid dendritic cell activation	Any process that stimulates, induces or increases the rate of myeloid dendritic cell activation.		mondo.json	up regulation of myeloid dendritic cell activation|activation of myeloid dendritic cell activation|stimulation of myeloid dendritic cell activation|upregulation of myeloid dendritic cell activation|up-regulation of myeloid dendritic cell activation	http://purl.obolibrary.org/obo/GO_0030887		
MONDO:0021080	biolink:Disease	blood vessel neoplasm	A neoplasm arising from arteries or veins.	NCIT:C7387|SCTID:126736007	mondo.json	neoplasm of blood vessel|blood vessel neoplasm|tumor of blood vessel|blood vessel neoplasm (disease)|blood vessel tumor	http://purl.obolibrary.org/obo/MONDO_0021080	http://identifiers.org/snomedct/126736007|NCIT:C7387	
MONDO:0045072	biolink:Disease	ectopic hormone secretion syndrome associated with neoplasia	Abnormal secretion of hormones in conjunction with neoplastic growth occurring anywhere in the body.	UMLS:C0851689|NCIT:C4065	mondo.json	neoplasm associated ectopic hormone secretion syndrome|ectopic hormone secretion syndrome associated with neoplasia	http://purl.obolibrary.org/obo/MONDO_0045072	NCIT:C4065|UMLS:C0851689	
GO:0030885	biolink:NamedThing	regulation of myeloid dendritic cell activation	Any process that modulates the frequency or rate of myeloid dendritic cell activation.		mondo.json		http://purl.obolibrary.org/obo/GO_0030885		
MONDO:0060688	biolink:Disease	hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency		OMIM:617953|UMLS:CN244571	mondo.json	hyperthyroxinemia, euthyroid, due to decreased peripheral conversion of T4|hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency	http://purl.obolibrary.org/obo/MONDO_0060688	https://omim.org/entry/617953|UMLS:CN244571	
NCBITaxon:745	biolink:OrganismalEntity	Pasteurella		GC_ID:11|PMID:1736960	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_745		
MONDO:0021089	biolink:Disease	peripheral nervous system cancer	Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location	NCIT:C4961|ICD9:171.9|SCTID:254986007|UMLS:C0751428	mondo.json	malignant tumor of peripheral nervous system|peripheral nervous system cancer|malignant peripheral nervous system neoplasm|cancer of peripheral nervous system|malignant neoplasm of peripheral nerve|malignant peripheral nerve tumor|malignant neoplasm of the peripheral nerve|malignant neoplasm of the PNS|malignant neoplasms, peripheral nerve|malignant neoplasm of PNS|malignant PNS tumor|malignant PNS neoplasm|malignant neoplasm of peripheral nervous system|malignant neoplasm of the peripheral nervous system|malignant peripheral nerve neoplasm|malignant tumor of the PNS|malignant peripheral nervous system tumor|peripheral nervous system neoplasms, malignant|malignant tumor of PNS|malignant tumor of peripheral nerve|malignant tumor of the peripheral nerve|malignant tumor of the peripheral nervous system	http://purl.obolibrary.org/obo/MONDO_0021089	UMLS:C0751428|http://identifiers.org/snomedct/254986007|NCIT:C4961	
MONDO:0021088	biolink:Disease	papillary meningioma	A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern.	NCIT:C3904|UMLS:C3163622|ICDO:9538/3|ONCOTREE:PPM	mondo.json	papillary meningioma	http://purl.obolibrary.org/obo/MONDO_0021088	UMLS:C3163622|NCIT:C3904	
MONDO:0021087	biolink:Disease	obsolete malignant granular cell myoblastoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0021087		
MONDO:0060690	biolink:Disease	phenytoin toxicity		OMIM:617955	mondo.json	fetal hydantoin syndrome|arene oxide detoxification defect|diphenylhydantoin, defect in hydroxylation of|phenytoin toxicity	http://purl.obolibrary.org/obo/MONDO_0060690	https://omim.org/entry/617955	
GO:0015267	biolink:NamedThing	channel activity	Enables the energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules.		mondo.json	channel-forming toxin activity|channel/pore class transporter activity|pore activity|alpha-type channel activity|nonselective channel activity|pore class transporter activity|substrate-specific channel activity	http://purl.obolibrary.org/obo/GO_0015267		
MONDO:0033091	biolink:Disease	ichthyosis, congenital, autosomal recessive 14		DOID:0080258|UMLS:CN317536|OMIM:617571|Orphanet:313	mondo.json	ichthyosis, congenital, autosomal recessive 14|ARCI14|autosomal recessive congenital ichthyosis 14	http://purl.obolibrary.org/obo/MONDO_0033091	UMLS:CN317536|DOID:0080258|https://omim.org/entry/617571	
MONDO:0033092	biolink:Disease	ichthyosis, congenital, autosomal recessive 13		UMLS:CN321864|DOID:0080257|OMIM:617574	mondo.json	ARCI13|ichthyosis, congenital, autosomal recessive 13|autosomal recessive congenital ichthyosis 13	http://purl.obolibrary.org/obo/MONDO_0033092	DOID:0080257|UMLS:CN321864|https://omim.org/entry/617574	
MONDO:0021075	biolink:Disease	neoplastic polyp		UMLS:C1334941|NCIT:C7068	mondo.json	neoplastic polyp	http://purl.obolibrary.org/obo/MONDO_0021075	UMLS:C1334941|NCIT:C7068	
GO:0030879	biolink:NamedThing	mammary gland development	The process whose specific outcome is the progression of the mammary gland over time, from its formation to the mature structure. The mammary gland is a large compound sebaceous gland that in female mammals is modified to secrete milk. Its development starts with the formation of the mammary line and ends as the mature gland cycles between nursing and weaning stages.		mondo.json	mammogenesis	http://purl.obolibrary.org/obo/GO_0030879		
MONDO:0021074	biolink:Disease	precancerous condition	A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia.	MESH:D011230|NCIT:C3341	mondo.json	premalignant condition|precancerous condition|premalignant state|precancerous state	http://purl.obolibrary.org/obo/MONDO_0021074	http://identifiers.org/mesh/D011230|NCIT:C3341	
MONDO:0021073	biolink:Disease	paraneoplastic syndrome	A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm.	UMLS:C0030472|SCTID:49783001|MESH:D010257|NCIT:C3311	mondo.json	paraneoplastic syndrome	http://purl.obolibrary.org/obo/MONDO_0021073	UMLS:C0030472|http://identifiers.org/mesh/D010257|http://identifiers.org/snomedct/49783001|NCIT:C3311	
MONDO:0021072	biolink:Disease	sympathetic paraganglioma	A benign or malignant paraganglioma arising from the chromaffin cells of the paraganglia that are located along the sympathetic nerves. It includes extra-adrenal paragangliomas and paragangliomas that arise from the adrenal medulla. The latter are commonly referred to as pheochromocytomas. Representative examples of extra-adrenal sympathetic paragangliomas include the bladder, and superior and inferior paraaortic paragangliomas. Clinical signs are related to the secretion of catecholamines resulting in hypertension.	SCTID:399343007|NCIT:C4216|MESH:C531777|ICDO:8681/1	mondo.json	chromaffin neoplasm|chromaffin tumor|sympathetic nervous system paraganglioma|Chromaffinoma|sympathetic paraganglioma|sympathetic Paraganglionic neoplasm|paraganglioma of sympathetic nervous system	http://purl.obolibrary.org/obo/MONDO_0021072	NCIT:C4216|http://identifiers.org/snomedct/399343007|http://identifiers.org/mesh/C531777	
MONDO:0021071	biolink:Disease	laryngeal neoplasm	A benign or malignant neoplasm involving the larynx.	EFO:0003817|SCTID:126692004|UMLS:C0023055|MESH:D007822|NCIT:C3156	mondo.json	tumor of larynx|neoplasm of the larynx|larynx neoplasm|larynx neoplasm (disease)|neoplasm of larynx|larynx tumor|tumor of the larynx|laryngeal neoplasm|laryngeal tumor	http://purl.obolibrary.org/obo/MONDO_0021071	http://identifiers.org/snomedct/126692004|UMLS:C0023055|http://identifiers.org/mesh/D007822|NCIT:C3156	
MONDO:0021070	biolink:Disease	sublingual gland carcinoma	A carcinoma that arises from the sublingual gland. Representative examples include cystadenocarcinoma and mucoepidermoid carcinoma.	SCTID:254466003|NCIT:C8397|UMLS:C0345611	mondo.json	sublingual gland cancer|carcinoma of sublingual gland|carcinoma of the sublingual gland|sublingual gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0021070	NCIT:C8397|http://identifiers.org/snomedct/254466003|UMLS:C0345611	
MONDO:0021079	biolink:Disease	childhood neoplasm	A benign or malignant neoplasm arising during childhood.	NCIT:C6283	mondo.json	childhood neoplasm (disease)|childhood neoplasm|pediatric tumor|pediatric neoplasm (disease)|pediatric neoplasm|childhood tumor|neoplasm (disease) of childhood	http://purl.obolibrary.org/obo/MONDO_0021079	NCIT:C6283	
MONDO:0021078	biolink:Disease	glandular papilloma		UMLS:C0205650|NCIT:C6880	mondo.json	glandular papilloma	http://purl.obolibrary.org/obo/MONDO_0021078	NCIT:C6880	
MONDO:0021077	biolink:Disease	cystic neoplasm	A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma.	UMLS:C1333190|NCIT:C6784	mondo.json	cystic neoplasm|cystic tumor	http://purl.obolibrary.org/obo/MONDO_0021077	NCIT:C6784|UMLS:C1333190	
MONDO:0008099	biolink:Disease	congenital stationary night blindness autosomal dominant 2	Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene.	OMIM:163500|MESH:C566869|UMLS:C1876182|DOID:0110863	mondo.json	night blindness, congenital stationary, autosomal dominant 2|congenital stationary night blindness caused by mutation in PDE6B|CSNBAD2|Rambusch type congenital stationary night blindness|night blindness, congenital stationary, Rambusch type|night blindness, congenital stationary, autosomal dominant type 2|congenital stationary night blindness autosomal dominant type 2|PDE6B congenital stationary night blindness	http://purl.obolibrary.org/obo/MONDO_0008099	UMLS:C1876182|https://omim.org/entry/163500|http://identifiers.org/mesh/C566869|DOID:0110863	
MONDO:0021076	biolink:Disease	pancreatic exocrine neoplasm	A benign or malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue.	NCIT:C4445|SCTID:254604005|UMLS:C0345920|ICD9:235.5	mondo.json	pancreatic exocrine neoplasm|tumor of exocrine pancreas|neoplasm of the exocrine pancreas|exocrine pancreas neoplasm (disease)|exocrine pancreas neoplasm|neoplasm of exocrine pancreas|exocrine pancreas tumor|tumor of the exocrine pancreas|pancreatic exocrine tumor	http://purl.obolibrary.org/obo/MONDO_0021076	UMLS:C0345920|http://identifiers.org/snomedct/254604005|NCIT:C4445	
MONDO:0008097	biolink:Disease	linear nevus sebaceous syndrome	Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).	GARD:0010291|DOID:0111530|NCIT:C4678|OMIM:163200|Orphanet:2612	mondo.json	Sfm syndrome|SFM syndrome|SFM|Nevus sebaceus syndrome|linear sebaceous Nevus syndrome|Nevus sebaceous of Jadassohn|Schimmelpenning syndrome|sebaceous Nevus syndrome, linear|organoid nevus syndrome|Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic|Jadassohn Nevus phakomatosis|Nevus sebaceus of Jadassohn|Jadassohn nevus phakomatosis|Epidermal Nevus syndrome, formerly|linear sebaceous Nevus|epidermal nevus syndrome|Schimmelpenning Feuerstein Mims syndrome|Solomon syndrome|JNP|organoid Nevus phakomatosis|SCHIMMELPENNING-FEUERSTEIN-MIMS syndrome|organoid nevus phakomatosis|sebaceous nevus syndrome linear|organoid Nevus	http://purl.obolibrary.org/obo/MONDO_0008097	NCIT:C4678|Orphanet:2612|https://omim.org/entry/163200|DOID:0111530	gard_rare|ordo_disease
GO:0015238	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0015238		
FOODON:00001771	biolink:NamedThing	cow milk based food product			mondo.json		http://purl.obolibrary.org/obo/FOODON_00001771		
MONDO:0008098	biolink:Disease	mesomelic dwarfism, Nievergelt type		UMLS:C0432231|OMIM:163400|MESH:C536120|Orphanet:2633|SCTID:33979003|GARD:0003554	mondo.json	mesomelic dysplasia, Nievergelt type|Nievergelt syndrome|radioulnar synostosis and a typical rhomboid shape of the tibia and fibula|mesomelic dwarfism Nievergelt type	http://purl.obolibrary.org/obo/MONDO_0008098	http://identifiers.org/snomedct/33979003|Orphanet:2633|http://identifiers.org/mesh/C536120|https://omim.org/entry/163400|UMLS:C0432231	ordo_malformation_syndrome
MONDO:0008095	biolink:Disease	nevus anemicus	A capillary vascular anomaly that is characterized by hypopigmented macules.	ICD9:709.09|NCIT:C3943|SCTID:40929003|OMIM:163050|HP:0025105	mondo.json	Nevus anemicus|nevus anemicus (disease)|NEVUS anemicus|anemicus Nevus	http://purl.obolibrary.org/obo/MONDO_0008095	NCIT:C3943|https://omim.org/entry/163050|http://identifiers.org/snomedct/40929003	
HGNC:10298	biolink:NamedThing	RPL10			mondo.json		http://identifiers.org/hgnc/10298		
MONDO:0008096	biolink:Disease	nevus flammeus of nape of neck		OMIM:163100|MESH:C567524	mondo.json	erythema nuchae|Unna Nevus|nevus flammeus of nape of neck	http://purl.obolibrary.org/obo/MONDO_0008096	http://identifiers.org/mesh/C567524|https://omim.org/entry/163100	
MONDO:0008093	biolink:Disease	nevus, epidermal	A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed.	OMIM:162900|DOID:0111162|NCIT:C4088|MESH:C580062|GARD:0013025	mondo.json	Nevus, woolly hair|epidermal nevus, somatic|Nevus, Keratinocytic, nonepidermolytic|nevus, epidermal, somatic|nevus, epidermal|Nevus sebaceous|nonepidermolytic keratinocytic nevus|Epidermal Nevus|nevus sebaceous or woolly hair nevus, somatic	http://purl.obolibrary.org/obo/MONDO_0008093	DOID:0111162|http://identifiers.org/mesh/C580062|https://omim.org/entry/162900|NCIT:C4088	
MONDO:0008094	biolink:Disease	familial multiple nevi flammei	A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color.	UMLS:CN205384|MedDRA:10067193|Orphanet:624|UMLS:C0235752|NCIT:C3840|OMIM:163000|DOID:0111529|GARD:0003986|SCTID:416377005	mondo.json	port-wine stain of skin|nevi flammei, familial multiple|port wine stain|familial multiple port-wine stains|CMC|Nevus flammeus|port-wine stain familial multiple|capillary malformations, congenital, 1, somatic, mosaic|capillary malformations, congenital|capillary malformations|port wine Nevus|port-wine stain|port wine birthmark|port wine stain of skin|Salmon patch Nevus|port wine stain of the skin|port wine type hemangioma	http://purl.obolibrary.org/obo/MONDO_0008094	NCIT:C3840|https://omim.org/entry/163000|Orphanet:624|http://identifiers.org/snomedct/416377005|DOID:0111529|UMLS:C0235752|UMLS:CN205384	ordo_morphological_anomaly
HP:0002514	biolink:PhenotypicFeature	Cerebral calcification	The presence of calcium deposition within brain structures.	SNOMEDCT_US:17944005|UMLS:C0270685	mondo.json	Brain calcification|Intracerebral calcifications|Intracranial calcification|Abnormal deposits of calcium in the brain|Intracranial calcifications	http://purl.obolibrary.org/obo/HP_0002514		
MONDO:0008091	biolink:Disease	obsolete abnormal neutrophil chemotactic response		OMIM:162820	mondo.json	neutrophil chemotactic response|neutrophil migration|NM	http://purl.obolibrary.org/obo/MONDO_0008091	https://omim.org/entry/162820	
MONDO:0008092	biolink:Disease	hereditary neutrophilia	A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34.	Orphanet:279943|SCTID:129639005|DOID:0090120|MESH:C563010|OMIM:162830|UMLS:C0543669	mondo.json	neutrophilia, hereditary	http://purl.obolibrary.org/obo/MONDO_0008092	UMLS:C0543669|Orphanet:279943|DOID:0090120|http://identifiers.org/mesh/C563010|https://omim.org/entry/162830|http://identifiers.org/snomedct/129639005	ordo_disease
MONDO:0008090	biolink:Disease	cyclic hematopoiesis	A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever.	MESH:C536227|DOID:5339|OMIM:162800|SCTID:191347008|GARD:0006229|MedDRA:10053176|NCIT:C3820|Orphanet:2686|ICD9:288.02	mondo.json	neutropenia, cyclic|neutropenia cyclic|cyclic neutropenia|CN|cyclic agranulocytosis|periodic neutropenia|dysplasia, myelocytic periodic|cyclical neutropenia|CH|cyclic hematopoiesis|neutropenia, periodic	http://purl.obolibrary.org/obo/MONDO_0008090	NCIT:C3820|DOID:5339|Orphanet:2686|http://identifiers.org/mesh/C536227|http://identifiers.org/snomedct/191347008|https://omim.org/entry/162800	ordo_disease
HGNC:10297	biolink:NamedThing	RPIA			mondo.json		http://identifiers.org/hgnc/10297		
HGNC:10294	biolink:NamedThing	RPE65			mondo.json		http://identifiers.org/hgnc/10294		
HGNC:10295	biolink:NamedThing	RPGR			mondo.json		http://identifiers.org/hgnc/10295		
MONDO:0021064	biolink:Disease	jugulotympanic paraganglioma	A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear.	GARD:0010599|ICDO:8690/1|ICD9:239.7|NCIT:C3061|UMLS:C0017671|SCTID:127030001	mondo.json	Glomus tumor|Paraganglioma - glomus jugulare|glomus jugulare tumor|neoplasm of the glomus jugulare|neoplasm of glomus jugulare|jugulotympanic paraganglioma|parasympathetic paraganglioma of basicranium|glomus jugulare neoplasm|basicranium parasympathetic paraganglioma|tumor of the glomus jugulare|tumor of glomus jugulare|jugular paraganglioma	http://purl.obolibrary.org/obo/MONDO_0021064	http://identifiers.org/snomedct/127030001|NCIT:C3061|UMLS:C0017671	gard_rare
MONDO:0021063	biolink:Disease	malignant colon neoplasm	A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.	ICD9:153.8|ICD9:153.9|DOID:219|ICD9:153|SCTID:363406005|UMLS:C0007102|NCIT:C9242	mondo.json	malignant neoplasm of colon|malignant neoplasm of the colon|malignant colonic neoplasm|malignant colon tumor|cancer of colon|colon tumor, malignant|malignant colon neoplasm|malignant tumor of the colon|malignant tumor of colon|malignant colonic tumor|colon neoplasm, malignant|colon cancer	http://purl.obolibrary.org/obo/MONDO_0021063	NCIT:C9242|DOID:219|http://identifiers.org/snomedct/363406005|UMLS:C0007102	
MONDO:0021062	biolink:Disease	obsolete hereditary acrokeratotic poikiloderma of Kindler-Weary		Orphanet:306539|OMIM:173650|UMLS:CN203514	mondo.json		http://purl.obolibrary.org/obo/MONDO_0021062	UMLS:CN203514|Orphanet:306539	ordo_disease
MONDO:0021061	biolink:Disease	neurofibromatosis	A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist.	ICD9:237.7|ICDO:9540/1|ICD9:237.70|UMLS:C0162678|DOID:8712|ICD9:237.72|MESH:D017253|ICD9:237.71|GARD:0010420|NCIT:C6727|SCTID:19133005	mondo.json	neurofibromatosis type IV|neurofibromatosis type 2|neurofibromatosis|central Neurofibromatosis|acoustic neurofibromatosis|von Reklinghausen disease|Recklinghausen's neurofibromatosis|peripheral Neurofibromatosis|neurofibromatosis syndrome|type IV neurofibromatosis of riccardi|neurofibromatosis type 4	http://purl.obolibrary.org/obo/MONDO_0021061	http://identifiers.org/snomedct/19133005|UMLS:C0162678|http://identifiers.org/mesh/D017253|NCIT:C6727|DOID:8712	
NCBITaxon:768	biolink:OrganismalEntity	Anaplasma		PMID:11760958|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_768		
MONDO:0021060	biolink:Disease	RASopathy	Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.	Orphanet:536391|NCIT:C179667|EFO:1001502	mondo.json	disorder of Ras protein signal transduction|RASopathy|Ras protein signal transduction disease	http://purl.obolibrary.org/obo/MONDO_0021060	Orphanet:536391|NCIT:C179667	disease_grouping|ordo_group_of_disorders
MONDO:0021069	biolink:Disease	malignant endocrine neoplasm	A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma.	DOID:170|MESH:D004701|NCIT:C3575|ICD9:194.9	mondo.json	malignant endocrine gland tumor|endocrine gland cancer|malignant endocrine neoplasm|malignant endocrine tumor|malignant endocrine gland neoplasm|malignant tumor of the endocrine gland|malignant tumor of endocrine gland|malignant tumour of endocrine gland|cancer of endocrine gland|neoplasm of endocrine system|endocrine cancer|endocrine neoplasm|endocrine neoplasm, malignant|malignant neoplasm of endocrine gland|Endocrine tumor|malignant neoplasm of the endocrine gland	http://purl.obolibrary.org/obo/MONDO_0021069	http://identifiers.org/mesh/D004701|NCIT:C3575|DOID:170	
MONDO:0021068	biolink:Disease	ovarian neoplasm	A benign, borderline, or malignant neoplasm involving the ovary.	NCIT:C4984|SCTID:123843001|ICD9:239.5|UMLS:CN236629	mondo.json	ovary neoplasm|ovarian tumor|neoplasm of ovary|ovary tumor|tumor of the ovary|ovarian neoplasm|ovary neoplasm (disease)|ovarian tumors|tumor of ovary|neoplasm of the ovary	http://purl.obolibrary.org/obo/MONDO_0021068	NCIT:C4984|http://identifiers.org/snomedct/123843001|UMLS:CN236629	
MONDO:0021067	biolink:Disease	mediastinal germ cell tumor	A germ cell tumor that arises from the mediastinum. Representative examples include seminoma, embryonal carcinoma, yolk sac tumor, teratoma, and mixed germ cell tumor.	NCIT:C6437|UMLS:C1334655	mondo.json	mediastinal germ cell tumor|germ cell neoplasm of the mediastinum|germ cell neoplasm of mediastinum|thymic germ cell tumor|mediastinal germ cell neoplasm|mediastinum germ cell tumor|germ cell tumor of the mediastinum|germ cell tumor of mediastinum	http://purl.obolibrary.org/obo/MONDO_0021067	UMLS:C1334655|NCIT:C6437	
NCBITaxon:766	biolink:OrganismalEntity	Rickettsiales		PMID:11760958|GC_ID:11|PMID:8240958	mondo.json	alpha-1 proteobacteria|rickettsias	http://purl.obolibrary.org/obo/NCBITaxon_766		
MONDO:0021066	biolink:Disease	urinary system neoplasm	A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003	NCIT:C3431|SCTID:126879004|ONCOTREE:BLADDER|ICD9:239.5	mondo.json	neoplasm of the urinary tract|neoplasm of urinary tract|neoplasm of urinary system|urinary tract tumor|tumor of renal system|urinary system tumor|neoplasm of the urinary system|renal system neoplasm|tumor of the urinary tract|tumor of urinary tract|neoplasm of renal system|tumor of urinary system|renal system tumor|tumor of the urinary system|urinary system neoplasm|renal system neoplasm (disease)|urinary tract neoplasm	http://purl.obolibrary.org/obo/MONDO_0021066	NCIT:C3431|http://identifiers.org/snomedct/126879004	
MONDO:0021065	biolink:Disease	pleural neoplasm	A benign or malignant neoplasm that involves the serous membrane that lines the lungs and thoracic cavity. Most pleural neoplasms are metastatic. Diffuse malignant mesothelioma is the most common primary malignant neoplasm of the pleura.	UMLS:C0032229|NCIT:C3332|MESH:D010997|SCTID:126719004|ONCOTREE:PLEURA	mondo.json	pleura neoplasm (disease)|neoplasm of the pleura|pleural neoplasm|neoplasm of pleura|tumor of the pleura|pleura tumor|pleura neoplasm|pleural cavity neoplasm (disease)|pleural tumor|neoplasm of pleural cavity|pleural cavity tumor|tumor of pleura	http://purl.obolibrary.org/obo/MONDO_0021065	http://identifiers.org/snomedct/126719004|http://identifiers.org/mesh/D010997|UMLS:C0032229|NCIT:C3332	
HP:0002524	biolink:PhenotypicFeature	Cataplexy	A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions.	MSH:D002385|SNOMEDCT_US:46263000|UMLS:C0007384	mondo.json		http://purl.obolibrary.org/obo/HP_0002524		
FOODON:00001785	biolink:NamedThing	crab food product			mondo.json		http://purl.obolibrary.org/obo/FOODON_00001785		
MONDO:0045020	biolink:Disease	glycine metabolism disease	A disease that has its basis in the disruption of glycine metabolic process.	UMLS:C0268558|SCTID:83076007	mondo.json	disorder of glycine metabolic process|glycine metabolism disease|disorder of glycine metabolism|glycine metabolic process disease	http://purl.obolibrary.org/obo/MONDO_0045020	UMLS:C0268558|http://identifiers.org/snomedct/83076007	
GO:0030857	biolink:NamedThing	negative regulation of epithelial cell differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of epithelial cell differentiation.		mondo.json	inhibition of epithelial cell differentiation|downregulation of epithelial cell differentiation|down-regulation of epithelial cell differentiation|down regulation of epithelial cell differentiation	http://purl.obolibrary.org/obo/GO_0030857		
GO:0030858	biolink:NamedThing	positive regulation of epithelial cell differentiation	Any process that activates or increases the frequency, rate or extent of epithelial cell differentiation.		mondo.json	up-regulation of epithelial cell differentiation|up regulation of epithelial cell differentiation|activation of epithelial cell differentiation|stimulation of epithelial cell differentiation|upregulation of epithelial cell differentiation	http://purl.obolibrary.org/obo/GO_0030858		
MONDO:0045022	biolink:Disease	disorder of organic acid metabolism	A disease that has its basis in the disruption of organic acid metabolic process.	ICD9:277.89|SCTID:116021002	mondo.json	organic acid metabolic process disease|disorder of organic acid metabolism|organic acid metabolism disorder|disorder of organic acid metabolic process	http://purl.obolibrary.org/obo/MONDO_0045022	http://identifiers.org/snomedct/116021002	
GO:0030855	biolink:NamedThing	epithelial cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell, any of the cells making up an epithelium.		mondo.json		http://purl.obolibrary.org/obo/GO_0030855		
NCBITaxon:779	biolink:OrganismalEntity	Ehrlichia ruminantium		PMID:11414267|PMID:11760958|GC_ID:11|PMID:1581187|PMID:1380292	mondo.json	Cowdria ruminantium|heartwater rickettsia|Rickettsia ruminantium|Nicollea ruminantium|Kurlovia ruminantium	http://purl.obolibrary.org/obo/NCBITaxon_779		
GO:0030856	biolink:NamedThing	regulation of epithelial cell differentiation	Any process that modulates the frequency, rate or extent of epithelial cell differentiation.		mondo.json		http://purl.obolibrary.org/obo/GO_0030856		
MONDO:0045021	biolink:Disease	obsolete sucrose intolerance disease		ICD9:271.3|SCTID:190753003	mondo.json	sucrose intolerance	http://purl.obolibrary.org/obo/MONDO_0045021	http://identifiers.org/snomedct/190753003	
GO:0030853	biolink:NamedThing	negative regulation of granulocyte differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of granulocyte differentiation.		mondo.json	inhibition of granulocyte differentiation|downregulation of granulocyte differentiation|down-regulation of granulocyte differentiation|down regulation of granulocyte differentiation	http://purl.obolibrary.org/obo/GO_0030853		
GO:0030854	biolink:NamedThing	positive regulation of granulocyte differentiation	Any process that activates or increases the frequency, rate or extent of granulocyte differentiation.		mondo.json	up-regulation of granulocyte differentiation|up regulation of granulocyte differentiation|activation of granulocyte differentiation|stimulation of granulocyte differentiation|upregulation of granulocyte differentiation	http://purl.obolibrary.org/obo/GO_0030854		
GO:0030851	biolink:NamedThing	granulocyte differentiation	The process in which a myeloid precursor cell acquires the specialized features of a granulocyte. Granulocytes are a class of leukocytes characterized by the presence of granules in their cytoplasm. These cells are active in allergic immune reactions such as arthritic inflammation and rashes. This class includes basophils, eosinophils and neutrophils.		mondo.json	granulocyte cell differentiation	http://purl.obolibrary.org/obo/GO_0030851		
GO:0030852	biolink:NamedThing	regulation of granulocyte differentiation	Any process that modulates the frequency, rate or extent of granulocyte differentiation.		mondo.json		http://purl.obolibrary.org/obo/GO_0030852		
MONDO:0060659	biolink:Disease	neurodevelopmental disorder with poor language and loss of hand skills		OMIM:617903	mondo.json	neurodevelopmental disorder with poor language and loss of hand skills|NDPLHS	http://purl.obolibrary.org/obo/MONDO_0060659	https://omim.org/entry/617903	
NCBITaxon:774	biolink:OrganismalEntity	Bartonella bacilliformis		GC_ID:11	mondo.json	Bartonia bacilliformis	http://purl.obolibrary.org/obo/NCBITaxon_774		
MONDO:0045028	biolink:Disease	obsolete radiation or chemically induced disorder	OBSOLETE. A disease or disorder that is induced by either chemical or radiation exposure.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0045028		
UBERON:0009906	biolink:AnatomicalEntity	root of optic nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009906		
NCBITaxon:773	biolink:OrganismalEntity	Bartonella		PMID:8863415|PMID:11837299|PMID:12508871|PMID:10425758|PMID:8240958|PMID:7857789|GC_ID:11	mondo.json	"Bartonia" Strong et al. 1913|Rocha-Limae|Grahmia|Rochalimaea|Grahamella	http://purl.obolibrary.org/obo/NCBITaxon_773		
MONDO:0045027	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0045027		
NCBITaxon:772	biolink:OrganismalEntity	Bartonellaceae		PMID:8240958|GC_ID:11	mondo.json	Bartonella group	http://purl.obolibrary.org/obo/NCBITaxon_772		
MONDO:0045029	biolink:Disease	obsolete Deuteromycetes infectious disease		SCTID:59258008	mondo.json	infection by Deuteromycetes|infection caused by Deuteromycetes	http://purl.obolibrary.org/obo/MONDO_0045029	http://identifiers.org/snomedct/59258008	
MONDO:0045024	biolink:Disease	cancer or benign tumor	Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions.		mondo.json	cell proliferation disorder|neoplasm	http://purl.obolibrary.org/obo/MONDO_0045024		harrisons_view
NCBITaxon:777	biolink:OrganismalEntity	Coxiella burnetii		GC_ID:11|PMID:9226923	mondo.json	Rickettsia diaporica|Rickettsia burneti	http://purl.obolibrary.org/obo/NCBITaxon_777		
MONDO:0045023	biolink:Disease	acquired adrenogenital syndrome	An instance of adrenogenital syndrome that is acquired during the lifetime of the individual.	UMLS:C0237971|SCTID:190512008	mondo.json	acquired adrenogenital syndrome	http://purl.obolibrary.org/obo/MONDO_0045023	http://identifiers.org/snomedct/190512008|UMLS:C0237971	
NCBITaxon:776	biolink:OrganismalEntity	Coxiella <g-proteobacteria>		GC_ID:11	mondo.json	Burnetia|Coxiella	http://purl.obolibrary.org/obo/NCBITaxon_776		
NCBITaxon:775	biolink:OrganismalEntity	Rickettsiaceae		GC_ID:11|PMID:8240958|PMID:2592342|PMID:11760958	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_775		
MONDO:0033043	biolink:Disease	spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy		Orphanet:527497|OMIM:617560|DOID:0080252|UMLS:C4479653	mondo.json	spastic ataxia 8|SPAX8|spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	http://purl.obolibrary.org/obo/MONDO_0033043	DOID:0080252|Orphanet:527497|UMLS:C4479653|https://omim.org/entry/617560	ordo_disease
HP:0002573	biolink:PhenotypicFeature	Hematochezia	The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.	SNOMEDCT_US:236068001|SNOMEDCT_US:405729008|UMLS:C0018932|MSH:D006471	mondo.json	Rectal bleeding|Recurrent rectal bleeding	http://purl.obolibrary.org/obo/HP_0002573		
UBERON:0009911	biolink:AnatomicalEntity	lobule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009911		
FOODON:00001792	biolink:NamedThing	crustacean food product			mondo.json		http://purl.obolibrary.org/obo/FOODON_00001792		
UBERON:0009912	biolink:AnatomicalEntity	anatomical lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009912		
UBERON:0009913	biolink:AnatomicalEntity	renal lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009913		
UBERON:0009914	biolink:AnatomicalEntity	renal lobule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009914		
HP:0002577	biolink:PhenotypicFeature	Abnormal stomach morphology	An abnormality of the stomach.	UMLS:C4025699	mondo.json	Abnormality of the stomach	http://purl.obolibrary.org/obo/HP_0002577		
UBERON:0009916	biolink:AnatomicalEntity	wall of ureter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009916		
MONDO:0033046	biolink:Disease	Meier-Gorlin syndrome 8		UMLS:C4479655|DOID:0080255|OMIM:617564	mondo.json	MGORS8|Meier-Gorlin syndrome 8	http://purl.obolibrary.org/obo/MONDO_0033046	DOID:0080255|UMLS:C4479655|https://omim.org/entry/617564	
HGNC:10274	biolink:NamedThing	RP2			mondo.json		http://identifiers.org/hgnc/10274		
MONDO:0033047	biolink:Disease	Perrault syndrome 6		UMLS:C4479656|DOID:0080256|OMIM:617565	mondo.json	Perrault syndrome 6|PRLTS6	http://purl.obolibrary.org/obo/MONDO_0033047	DOID:0080256|UMLS:C4479656|https://omim.org/entry/617565	
MONDO:0033044	biolink:Disease	Meckel syndrome 13		DOID:0080276|DOID:0080253|OMIM:617562	mondo.json	Meckel syndrome 13|Joubert syndrome 29|MKS13|Meckel syndrome, type 13	http://purl.obolibrary.org/obo/MONDO_0033044	DOID:0080253|DOID:0080276|https://omim.org/entry/617562	
MONDO:0033045	biolink:Disease	orofaciodigital syndrome 16		DOID:0080254|UMLS:CN317535|OMIM:617563	mondo.json	OFD16|orofaciodigital syndrome XVI|Ofds 16|oral-Facial-digital syndrome, type 16	http://purl.obolibrary.org/obo/MONDO_0033045	DOID:0080254|UMLS:CN317535|https://omim.org/entry/617563	
MONDO:0045031	biolink:Disease	obsolete infectious diarrheal disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0045031		
MONDO:0045030	biolink:Disease	non-infectious diarrheal disease		SCTID:69980003|UMLS:C0267436	mondo.json	presumed non-infectious diarrhea|non-infective diarrhea	http://purl.obolibrary.org/obo/MONDO_0045030	UMLS:C0267436|http://identifiers.org/snomedct/69980003	
MONDO:0045033	biolink:Disease	opportunistic systemic mycosis	A mycosis that arises from infection in an immunologically compromised host and is systemic.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0045033		
MONDO:0045032	biolink:Disease	congenital secretory diarrhea		UMLS:C0267661|ICD9:579.8|SCTID:25898005	mondo.json	congenital secretory diarrhea	http://purl.obolibrary.org/obo/MONDO_0045032	http://identifiers.org/snomedct/25898005|UMLS:C0267661	
MONDO:0060649	biolink:Disease	obsolete short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			mondo.json		http://purl.obolibrary.org/obo/MONDO_0060649		
MONDO:0045039	biolink:Disease	systemic basidiobolomycosis		SCTID:240787008|UMLS:C0343967	mondo.json	disseminated basidiobolomycosis	http://purl.obolibrary.org/obo/MONDO_0045039	UMLS:C0343967|http://identifiers.org/snomedct/240787008	
NCBITaxon:785	biolink:OrganismalEntity	Rickettsia typhi		GC_ID:11	mondo.json	Dermacentroxenus typhi|Rickettsia mooseri	http://purl.obolibrary.org/obo/NCBITaxon_785		
NCBITaxon:784	biolink:OrganismalEntity	Orientia tsutsugamushi		PMID:1906730|PMID:8590688|GC_ID:11	mondo.json	Rickettsia tsutsugamushi|Rickettsia orientalis|Rickettsia akamushi|Theileria tsutsugamushi	http://purl.obolibrary.org/obo/NCBITaxon_784		
MONDO:0045038	biolink:Disease	cutaneous basidiobolomycosis		SCTID:240786004|UMLS:C0343966	mondo.json		http://purl.obolibrary.org/obo/MONDO_0045038	UMLS:C0343966|http://identifiers.org/snomedct/240786004	
NCBITaxon:136841	biolink:OrganismalEntity	Pseudomonas aeruginosa group		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_136841		
NCBITaxon:783	biolink:OrganismalEntity	Rickettsia rickettsii		GC_ID:11	mondo.json	Dermacentroxenus rickettsii	http://purl.obolibrary.org/obo/NCBITaxon_783		
NCBITaxon:782	biolink:OrganismalEntity	Rickettsia prowazekii		PMID:15879256|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_782		
MONDO:0045035	biolink:Disease	opportunistic infectious	A characteristic of an infectious disease in which the disease affects an immunologically compromised host.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0045035		
MONDO:0060642	biolink:Disease	neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features		OMIM:617865|UMLS:CN800196	mondo.json	NEDMAGA|neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	http://purl.obolibrary.org/obo/MONDO_0060642	https://omim.org/entry/617865|UMLS:CN800196	
MONDO:0045034	biolink:Disease	infectious disease characteristic			mondo.json		http://purl.obolibrary.org/obo/MONDO_0045034		
NCBITaxon:787	biolink:OrganismalEntity	Rickettsia australis		PMID:11034486|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_787		
MONDO:0045037	biolink:Disease	hyalohyphomycosis	An opportunistic infection caused by a heterogeneous group of mitosporic fungi with clear (hyalo-) hyphae in the host. Common causative agents include acremonium; aspergillus; chrysosporium; fusarium; paecilomyces; penicillium; pseudallescheria; scedosporium; and scopulariopsis. Normally a dermatomycoses, it can become invasive in the immunocompromised host.	UMLS:C0343952|MESH:D060605|SCTID:240773008	mondo.json	hyalohyphomycosis	http://purl.obolibrary.org/obo/MONDO_0045037	http://identifiers.org/mesh/D060605|UMLS:C0343952|http://identifiers.org/snomedct/240773008	
MONDO:0060641	biolink:Disease	neurodevelopmental disorder with or without seizures and gait abnormalities		OMIM:617864|UMLS:CN800195	mondo.json	neurodevelopmental disorder with or without seizures and gait abnormalities|NEDSGA	http://purl.obolibrary.org/obo/MONDO_0060641	https://omim.org/entry/617864|UMLS:CN800195	
NCBITaxon:786	biolink:OrganismalEntity	Rickettsia akari		GC_ID:11	mondo.json	Dermacentroxenus murinus|rickettsialpox|agent of rickettsialpox|Gamasoxenus muris	http://purl.obolibrary.org/obo/NCBITaxon_786		
MONDO:0045036	biolink:Disease	primary infectious	A characteristic of an infectious disease in which the disease affects an immunologically normal host.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0045036		
GO:0030849	biolink:NamedThing	autosome	Any chromosome other than a sex chromosome.		mondo.json		http://purl.obolibrary.org/obo/GO_0030849		
MONDO:0060640	biolink:Disease	neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy		OMIM:617862|UMLS:CN787271	mondo.json	neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy|NEDMEBA	http://purl.obolibrary.org/obo/MONDO_0060640	https://omim.org/entry/617862|UMLS:CN787271	
MONDO:0060650	biolink:Disease	Leber congenital amaurosis with early-onset deafness		OMIM:617879|UMLS:CN807950	mondo.json	LCAEOD|Leber congenital amaurosis with early-onset deafness	http://purl.obolibrary.org/obo/MONDO_0060650	https://omim.org/entry/617879|UMLS:CN807950	
HP:0002584	biolink:PhenotypicFeature	Intestinal bleeding	Bleeding from the intestines.	SNOMEDCT_US:712510007|UMLS:C0267373	mondo.json	Intestinal hemorrhage|Intestinal haemorrhage|Intestinal bleeding	http://purl.obolibrary.org/obo/HP_0002584		
HGNC:10288	biolink:NamedThing	RP9			mondo.json		http://identifiers.org/hgnc/10288		
NCBITaxon:781	biolink:OrganismalEntity	Rickettsia conorii		PMID:15766388|PMID:15879256|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_781		
NCBITaxon:780	biolink:OrganismalEntity	Rickettsia		PMID:9103608|PMID:14662925|PMID:10939649|GC_ID:11|PMID:11491333	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_780		
MONDO:0033056	biolink:Disease	obsolete genetic facial cleft		Orphanet:414726	mondo.json		http://purl.obolibrary.org/obo/MONDO_0033056	Orphanet:414726	
MONDO:0045042	biolink:Disease	restricted to specific location			mondo.json	localized	http://purl.obolibrary.org/obo/MONDO_0045042		
MONDO:0045044	biolink:Disease	ligament disorder	A disease or disorder that involves the ligament.	SCTID:60492000|UMLS:C0263976	mondo.json	ligament disease or disorder|disorder of ligament|disease of ligament|disease or disorder of ligament	http://purl.obolibrary.org/obo/MONDO_0045044	UMLS:C0263976|http://identifiers.org/snomedct/60492000	
MONDO:0045043	biolink:Disease	disorder of uterine broad ligament	A disease or disorder that involves the broad ligament of uterus.	UMLS:C0404479|SCTID:237062006	mondo.json	broad ligament of uterus disease or disorder|broad ligament of uterus disease|disorder of broad ligament of uterus|disorder of broad ligament|disease of broad ligament of uterus|disease or disorder of broad ligament of uterus	http://purl.obolibrary.org/obo/MONDO_0045043	UMLS:C0404479|http://identifiers.org/snomedct/237062006	
OBO:mondo#disease_shares_features_of	biolink:NamedThing	disease shares features of			mondo.json		http://purl.obolibrary.org/obo/mondo#disease_shares_features_of		
MONDO:0045040	biolink:Disease	locational disease characteristic			mondo.json		http://purl.obolibrary.org/obo/MONDO_0045040		
MONDO:0045049	biolink:Disease	hypermature cataract		ICD9:366.18|SCTID:267626000	mondo.json	hypermature cataract	http://purl.obolibrary.org/obo/MONDO_0045049	http://identifiers.org/snomedct/267626000	
MONDO:0060677	biolink:Disease	chromosome 1p35 deletion syndrome		UMLS:CN244562|OMIM:617930	mondo.json	chromosome 1p35 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0060677	https://omim.org/entry/617930|UMLS:CN244562	
MONDO:0045046	biolink:Disease	inherited thyroid metabolism disease	An inherited metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process.	ICD9:246.8|UMLS:C0271824|SCTID:36985004	mondo.json	inborn thyroid hormone metabolic process disorder|rare inborn error of thyroid hormone metabolic process|inborn error of thyroid hormone metabolic process|inherited disorder of thyroid metabolism	http://purl.obolibrary.org/obo/MONDO_0045046	UMLS:C0271824|http://identifiers.org/snomedct/36985004	
MONDO:0045045	biolink:Disease	selective IgG immunodeficiency	A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity.	UMLS:C0162539|SCTID:12631000119106|NCIT:C27142|GARD:0010371	mondo.json	selective IgG immunodeficiency|IgG deficiency|IgG subclass deficiency	http://purl.obolibrary.org/obo/MONDO_0045045	UMLS:C0162539|http://identifiers.org/snomedct/12631000119106|NCIT:C27142	
MONDO:0045048	biolink:Disease	toxemia of pregnancy	A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria.	NCIT:C34943	mondo.json	toxemia of pregnancy	http://purl.obolibrary.org/obo/MONDO_0045048	NCIT:C34943	
HGNC:24891	biolink:NamedThing	DCAF8			mondo.json		http://identifiers.org/hgnc/24891		
MONDO:0045047	biolink:Disease	neurosarcoidosis	A sarcoidosis that involves the nervous system.	MESH:C535814|SCTID:230193008|UMLS:C0393485	mondo.json	sarcoidosis of nervous system|neurosarcoidosis|nervous system sarcoidosis	http://purl.obolibrary.org/obo/MONDO_0045047	http://identifiers.org/mesh/C535814|http://identifiers.org/snomedct/230193008|UMLS:C0393485	
HGNC:10257	biolink:NamedThing	ROR2			mondo.json		http://identifiers.org/hgnc/10257		
HGNC:10254	biolink:NamedThing	ROM1			mondo.json		http://identifiers.org/hgnc/10254		
HGNC:10250	biolink:NamedThing	ROBO2			mondo.json		http://identifiers.org/hgnc/10250		
MONDO:0045053	biolink:Disease	osteogenic neoplasm	A benign, intermediate, or malignant bone-forming neoplasm. Representative examples include osteoma, osteoblastoma, and osteosarcoma.	NCIT:C6603	mondo.json	osseous neoplasm|osteogenic neoplasm|osseous tumor|osteogenic tumor	http://purl.obolibrary.org/obo/MONDO_0045053	NCIT:C6603	
MONDO:0045052	biolink:Disease	benign osteogenic neoplasm	A non-metastasizing bone-forming neoplasm. This category includes osteoma, osteoid osteoma, and osteoblastoma.	NCIT:C6602	mondo.json	benign osteogenic tumor|benign osseous tumor|benign osseous neoplasm|osteogenic neoplasm, benign|benign osteogenic neoplasm	http://purl.obolibrary.org/obo/MONDO_0045052	NCIT:C6602	
MONDO:0045055	biolink:Disease	glycogen-rich carcinoma	A carcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. A representative example is the glycogen-rich, clear cell breast carcinoma.	NCIT:C4153	mondo.json	Glycogen-rich carcinoma	http://purl.obolibrary.org/obo/MONDO_0045055	NCIT:C4153	
MONDO:0045054	biolink:Disease	cancer-related condition	A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome).	NCIT:C8278|UMLS:C0280950	mondo.json	cancer-related problem or condition|problem/condition, cancer-related|problem/condition, cancer related|cancer-related condition|oncologic complications|cancer related problem/condition	http://purl.obolibrary.org/obo/MONDO_0045054	NCIT:C8278|UMLS:C0280950	
GO:0005886	biolink:NamedThing	plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.		mondo.json	plasma membrane lipid bilayer|bacterial inner membrane|cytoplasmic membrane|cellular membrane|plasmalemma|juxtamembrane|inner endospore membrane|cell membrane	http://purl.obolibrary.org/obo/GO_0005886		
GO:0005887	biolink:NamedThing	integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.		mondo.json	integral to plasma membrane	http://purl.obolibrary.org/obo/GO_0005887		
MONDO:0045051	biolink:Disease	cortical cataract	A cataract (disease) that involves the lens cortex.	ICD9:366.03|SCTID:193576003	mondo.json	lens cortex cataract (disease)|cataract (disease) of lens cortex	http://purl.obolibrary.org/obo/MONDO_0045051	http://identifiers.org/snomedct/193576003	
GO:0005884	biolink:NamedThing	actin filament	A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane.		mondo.json	microfilament	http://purl.obolibrary.org/obo/GO_0005884		
MONDO:0045050	biolink:Disease	nuclear cataract	A cataract (disease) that involves the lens nucleus.	ICD9:366.04|HP:0100018|SCTID:53889007	mondo.json	cataract (disease) of lens nucleus|lens nucleus cataract (disease)	http://purl.obolibrary.org/obo/MONDO_0045050	http://identifiers.org/snomedct/53889007	
GO:0005882	biolink:NamedThing	intermediate filament	A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins.		mondo.json	intermediate filament associated protein|type I intermediate filament associated protein|type II intermediate filament associated protein	http://purl.obolibrary.org/obo/GO_0005882		
MONDO:0060666	biolink:Disease	hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome		OMIM:617915|UMLS:CN895589	mondo.json	hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome|HADDTS	http://purl.obolibrary.org/obo/MONDO_0060666	https://omim.org/entry/617915|UMLS:CN895589	
MONDO:0045057	biolink:Disease	delirium	A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2)	MESH:D003693|SCTID:2776000|UMLS:C0011206|EFO:0009267|ICD9:293.0	mondo.json	OBS syndrome|organic brain syndrome	http://purl.obolibrary.org/obo/MONDO_0045057	UMLS:C0011206|http://identifiers.org/snomedct/2776000|http://identifiers.org/mesh/D003693	
MONDO:0045056	biolink:Disease	grade II meningioma	An atypical meningioma which may recur in approximately 29-40% of the cases. This category includes the atypical meningioma, chordoid meningioma, and clear cell meningioma.	UMLS:C1512259|NCIT:C38937	mondo.json	grade 2 meningioma|grade II meningioma|WHO grade II meningioma	http://purl.obolibrary.org/obo/MONDO_0045056	UMLS:C1512259|NCIT:C38937	
MONDO:0060664	biolink:Disease	neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		UMLS:CN889218|OMIM:617913	mondo.json	NEDMCR|neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	http://purl.obolibrary.org/obo/MONDO_0060664	https://omim.org/entry/617913|UMLS:CN889218	
MONDO:0060663	biolink:Disease	congenital heart defects, multiple types, 5		OMIM:617912|UMLS:CN873437	mondo.json	CONGENITAL heart defects, multiple types, 5|CHTD5	http://purl.obolibrary.org/obo/MONDO_0060663	UMLS:CN873437|https://omim.org/entry/617912	
MONDO:0045059	biolink:Disease	cribriform carcinoma of breast		DOID:5675	mondo.json	cribriform carcinoma|ductal carcinoma, cribriform type	http://purl.obolibrary.org/obo/MONDO_0045059	DOID:5675	
MONDO:0060662	biolink:Disease	Diamond-Blackfan anemia-like		OMIM:617911|UMLS:CN873436	mondo.json	DBAL|Diamond-Blackfan anemia-like	http://purl.obolibrary.org/obo/MONDO_0060662	UMLS:CN873436|https://omim.org/entry/617911	
MONDO:0045058	biolink:Disease	ACTH-producing pituitary gland neoplasm	An adenoma or carcinoma of the pituitary gland that produces corticotropin.	UMLS:C0278862|NCIT:C7909	mondo.json	adrenocorticotropin secreting tumor of the pituitary|adrenocorticotropin secreting tumor of pituitary|corticotropin secreting pituitary gland neoplasm|adrenocorticotropin producing pituitary gland tumor|ACTH-secreting tumor of the pituitary|ACTH-secreting tumor of pituitary|pituitary corticotropin secreting tumor|ACTH producing pituitary gland neoplasm|ACTH-producing pituitary neoplasm|ACTH-producing pituitary gland neoplasm|adrenocorticotropin secreting neoplasm of the pituitary|adrenocorticotropin secreting pituitary gland tumor|adrenocorticotropin secreting neoplasm of pituitary|ACTH-producing pituitary tumor|pituitary corticotropin secreting neoplasm	http://purl.obolibrary.org/obo/MONDO_0045058	UMLS:C0278862|NCIT:C7909	
MONDO:0060671	biolink:Disease	epilepsy, juvenile myoclonic, susceptibility to, 10		DOID:0111325|OMIM:617924	mondo.json	epilepsy, juvenile myoclonic, susceptibility to, 10|EJM10	http://purl.obolibrary.org/obo/MONDO_0060671	DOID:0111325|https://omim.org/entry/617924	predisposition
MONDO:0060670	biolink:Disease	amyotrophic lateral sclerosis, susceptibility to, 25		UMLS:CN895594|OMIM:617921	mondo.json	ALS25|amyotrophic lateral sclerosis, susceptibility to, 25	http://purl.obolibrary.org/obo/MONDO_0060670	UMLS:CN895594|https://omim.org/entry/617921	predisposition
HGNC:10260	biolink:NamedThing	RORC			mondo.json		http://identifiers.org/hgnc/10260		
HGNC:10263	biolink:NamedThing	RP1			mondo.json		http://identifiers.org/hgnc/10263		
MONDO:0023551	biolink:Disease	C1q nephropathy	C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome.	UMLS:C0403434|GARD:0012136|SCTID:236412002	mondo.json	C1q nephropathy	http://purl.obolibrary.org/obo/MONDO_0023551	http://identifiers.org/snomedct/236412002|UMLS:C0403434	gard_rare
MONDO:0023554	biolink:Disease	acquired testicular failure	Testicular failure, the cause of which is not present at birth.	NCIT:C131091|UMLS:C0403818|SCTID:236811002	mondo.json	Acquired Testicular Failure|acquired testicular failure|Acquired testicular failure	http://purl.obolibrary.org/obo/MONDO_0023554	http://identifiers.org/snomedct/236811002|UMLS:C0403818|NCIT:C131091	
MONDO:0023557	biolink:Disease	infective vaginitis	An infectious process affecting the vagina. Symptoms include pain and purulent discharge.	NCIT:C84353|SCTID:237091009|UMLS:C0404521	mondo.json	PV - Vaginal infection|Vaginal infection|vaginal infection|Infective vaginitis|Vaginal Infection	http://purl.obolibrary.org/obo/MONDO_0023557	NCIT:C84353|http://identifiers.org/snomedct/237091009|UMLS:C0404521	
MONDO:0023558	biolink:Disease	Kocher-debre-Semelaigne syndrome		MESH:C537211|GARD:0008270	mondo.json	association of muscular pseudohypertrophy and hypothyroidism in children|Kocher debre Semelaigne disease	http://purl.obolibrary.org/obo/MONDO_0023558	http://identifiers.org/mesh/C537211	gard_rare
MONDO:0011569	biolink:Disease	Charcot-Marie-Tooth disease type 2B1	Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.	GARD:0008548|DOID:0110156|SCTID:725048002|OMIM:605588|MESH:C537990|Orphanet:98856|UMLS:C1854154	mondo.json	LMNA Charcot-Marie-Tooth disease type 2|AR-CMT2B1|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B1|Charcot-Marie-Tooth disease, axonal, type 2B1|autosomal recessive axonal CMT4C1|Charcot-Marie-Tooth neuropathy, type 2B1|autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1|autosomal recessive Charcot-Marie-Tooth disease type 2B1|Charcot-Marie-Tooth disease neuronal type 2B1|Charcot-Marie-Tooth disease, axonal, autosomal recessive, 2B1|Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA|CMT 2B1|Charcot Marie Tooth disease type 2B1|CMT2B1|Charcot-Marie-Tooth disease, neuronal, type 2B1|Charcot-Marie-Tooth neuropathy type 2B1|Charcot-Marie-Tooth disease, type 2B1	http://purl.obolibrary.org/obo/MONDO_0011569	UMLS:C1854154|DOID:0110156|http://identifiers.org/snomedct/725048002|https://omim.org/entry/605588|http://identifiers.org/mesh/C537990|Orphanet:98856	ordo_disease|gard_rare
MONDO:0011573	biolink:Disease	psoriasis 7, susceptibility to		DOID:0111279|OMIM:605606	mondo.json	psoriasis 7, susceptibility to|PSORS7|psoriasis susceptibility 7|psoriasis, protection against	http://purl.obolibrary.org/obo/MONDO_0011573	https://omim.org/entry/605606|DOID:0111279	
MONDO:0035540	biolink:Disease	pheochromocytoma-paraganglioma	A rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla (pheochromocytoma) or from sympathetic and parasympathetic ganglia (paraganglioma). These tumors are most often benign and may produce catecholamines in excess causing hypertension and sometimes severe acute cardiovascular complications.	EFO:0020005|Orphanet:573163	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035540	Orphanet:573163	ordo_group_of_disorders
MONDO:0011572	biolink:Disease	type 1 diabetes mellitus 18	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 5q31.1-q33.1.	MESH:C565315|OMIM:605598|DOID:0110755|UMLS:C1854125	mondo.json	IDDM18|diabetes mellitus, insulin-dependent, 18|insulin-dependent diabetes mellitus 18	http://purl.obolibrary.org/obo/MONDO_0011572	https://omim.org/entry/605598|http://identifiers.org/mesh/C565315|UMLS:C1854125|DOID:0110755	
HGNC:3087	biolink:NamedThing	DVL3			mondo.json		http://identifiers.org/hgnc/3087		
MONDO:0011575	biolink:Disease	cerebrooculonasal syndrome	Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.	Orphanet:66625|GARD:0003480|UMLS:C1854108|OMIM:605627|MESH:C565313|SCTID:720855003	mondo.json	cerebrooculonasal syndrome	http://purl.obolibrary.org/obo/MONDO_0011575	Orphanet:66625|https://omim.org/entry/605627|http://identifiers.org/mesh/C565313|UMLS:C1854108|http://identifiers.org/snomedct/720855003	gard_rare|ordo_malformation_syndrome
MONDO:0011574	biolink:Disease	tetralogy of fallot syndrome, autosomal recessive		UMLS:C1854119|OMIM:605618|MESH:C565314	mondo.json	tetralogy of fallot syndrome, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0011574	https://omim.org/entry/605618|http://identifiers.org/mesh/C565314|UMLS:C1854119	
MONDO:0011577	biolink:Disease	myopathy, proximal, and ophthalmoplegia		UMLS:C1854106|OMIM:605637|MESH:C565311	mondo.json	inclusion body myopathy 3, autosomal dominant|proximal myopathy and ophthalmoplegia|MYOPATHY, proximal, and ophthalmoplegia|myopathy, proximal, and ophthalmoplegia|myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles|MYPOP|inclusion body myopathy 3, autosomal dominant, formerly	http://purl.obolibrary.org/obo/MONDO_0011577	https://omim.org/entry/605637|http://identifiers.org/mesh/C565311|UMLS:C1854106	
HGNC:3084	biolink:NamedThing	DVL1			mondo.json		http://identifiers.org/hgnc/3084		
MONDO:0011576	biolink:Disease	familial hyperaldosteronism type II	Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism.	NCIT:C127162|UMLS:C3839212|Orphanet:404|GARD:0002789|UMLS:C1854107|OMIM:605635|MESH:C565312|SCTID:703233008	mondo.json	HALD2|FH-II|familial adrenal adenoma|familial hyperaldosteronism type 2|hyperaldosteronism, familial, type II|FH2|FHII|FH 2	http://purl.obolibrary.org/obo/MONDO_0011576	https://omim.org/entry/605635|Orphanet:404|http://identifiers.org/mesh/C565312|NCIT:C127162|UMLS:C3839212|UMLS:C1854107|http://identifiers.org/snomedct/703233008	ordo_disease
CL:1000692	biolink:Cell	kidney interstitial fibroblast		KUPO:0001102	mondo.json		http://purl.obolibrary.org/obo/CL_1000692		
MONDO:0011579	biolink:Disease	late-onset retinal degeneration	Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.	UMLS:C1854065|MESH:C565309|DOID:0060869|SCTID:719431007|Orphanet:67042|OMIM:605670|GARD:0004357	mondo.json	late-onset retinal degeneration|LORD|pigmentary retinopathy|retinal Degeneration, late-onset, autosomal dominant|autosomal dominant late-onset retinal degeneration	http://purl.obolibrary.org/obo/MONDO_0011579	DOID:0060869|http://identifiers.org/snomedct/719431007|https://omim.org/entry/605670|http://identifiers.org/mesh/C565309|Orphanet:67042|UMLS:C1854065	ordo_disease
MONDO:0011578	biolink:Disease	familial papillary thyroid carcinoma with renal papillary neoplasia	Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC).	OMIM:605642|SCTID:717734005|UMLS:C1854104|Orphanet:97290|MESH:C565310	mondo.json	Ptcprn|thyroid carcinoma, papillary, with papillary renal neoplasia|Prn1|ptc-RCC	http://purl.obolibrary.org/obo/MONDO_0011578	http://identifiers.org/snomedct/717734005|https://omim.org/entry/605642|http://identifiers.org/mesh/C565310|Orphanet:97290|UMLS:C1854104	ordo_disease
MONDO:0035548	biolink:Disease	autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency		ICD10CM:D84.8|Orphanet:574957	mondo.json	Autosomal recessive MSMD due to partial JAK1 deficiency	http://purl.obolibrary.org/obo/MONDO_0035548	Orphanet:574957	ordo_disorder
MONDO:0035547	biolink:Disease	predisposition to severe viral infection due to IRF7 deficiency		Orphanet:574918|ICD10CM:D84.8	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035547	Orphanet:574918	ordo_disorder
MONDO:0011571	biolink:Disease	deafness, autosomal dominant 39, with dentinogenesis imperfecta 1		OMIM:605594|MESH:C565316|UMLS:C1854146	mondo.json	deafness, autosomal dominant 39, with dentinogenesis imperfecta 1|deafness, autosomal dominant 39, with dentinogenesis imperfecta type 1|deafness, autosomal dominant 39, with dentinogenesis|Dgi1/Dfna39 syndrome|Dfna39/Dgi1 syndrome|Dfna39/dentinogenesis imperfecta 1 syndrome	http://purl.obolibrary.org/obo/MONDO_0011571	https://omim.org/entry/605594|http://identifiers.org/mesh/C565316|UMLS:C1854146	
MONDO:0035542	biolink:Disease	obsolete split cord malformation		Orphanet:573278	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035542	Orphanet:573278	
MONDO:0011570	biolink:Disease	Charcot-Marie-Tooth disease type 2B2	Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.	MESH:C537991|GARD:0001249|SCTID:719981005|Orphanet:101101|UMLS:C1854150|DOID:0110179|OMIM:605589	mondo.json	CMT2B2|Charcot-Marie-Tooth disease neuronal type 2B2|Charcot-Marie-Tooth disease type 2B2|Charcot-Marie-Tooth disease, axonal, type 2B2|MED25 Charcot-Marie-Tooth disease type 2|Arcmt2B|ARCMT2B|Charcot-Marie-Tooth disease, neuronal, type 2B2|Charcot Marie Tooth disease type 2B2|Charcot-Marie-Tooth disease, type 2B2|CMT 2B2|Charcot-Marie-Tooth neuropathy type 2B2|autosomal recessive axonal CMT4C3|Charcot-Marie-Tooth disease type 2 caused by mutation in MED25|autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B2|AR-CMT2B2|Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2|Charcot-Marie-Tooth neuropathy, type 2B2	http://purl.obolibrary.org/obo/MONDO_0011570	https://omim.org/entry/605589|http://identifiers.org/mesh/C537991|DOID:0110179|UMLS:C1854150|Orphanet:101101|http://identifiers.org/snomedct/719981005	ordo_disease|gard_rare
MONDO:0035541	biolink:Disease	obsolete split cord malformation type II		Orphanet:573253	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035541	Orphanet:573253	
MONDO:0023540	biolink:Disease	Kashani-Strom-Utley syndrome		MESH:C537010|GARD:0000191|UMLS:C2931392|Orphanet:1137	mondo.json	pulmonary aortic stenosis obstructive uropathy|Kashani Strom Utley syndrome|hypoplastic pulmonary arteries and aorta with obstructive uropathy	http://purl.obolibrary.org/obo/MONDO_0023540	UMLS:C2931392|http://identifiers.org/mesh/C537010|Orphanet:1137	gard_rare
MONDO:0023541	biolink:Disease	Kasznica-Carlson-Coppedge syndrome		MESH:C537011|UMLS:C2931393|GARD:0003080	mondo.json	ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery|ectrodactyly spina bifida cardiopathy|Kasznica Carlson Coppedge syndrome	http://purl.obolibrary.org/obo/MONDO_0023541	UMLS:C2931393|http://identifiers.org/mesh/C537011	gard_rare
MONDO:0023543	biolink:Disease	Katsantoni-Papadakou-Lagoyanni syndrome		MESH:C537012|UMLS:C2931394|GARD:0003081	mondo.json	Katsantoni Papadakou Lagoyanni syndrome|Trichodermal syndrome and mental retardation|Trichodermal syndrome and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0023543	UMLS:C2931394|http://identifiers.org/mesh/C537012	gard_rare
NCBITaxon:317865	biolink:OrganismalEntity	Rickettsia conorii subsp. indica		PMID:15766388|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_317865		
MONDO:0011559	biolink:Disease	benign recurrent intrahepatic cholestasis type 2		DOID:0070232|Orphanet:99961|GARD:10029|OMIM:605479|GARD:0010029|MESH:C535934	mondo.json	Bric type 2|mild ABCB11 deficiency|cholestasis, benign recurrent intrahepatic, 2|recurrent familial intrahepatic cholestasis 2|BRIC2|benign recurrent intrahepatic cholestasis 2|cholestasis, benign recurrent intrahepatic 2|cholestasis, benign recurrent intrahepatic, type 2	http://purl.obolibrary.org/obo/MONDO_0011559	http://identifiers.org/mesh/C535934|DOID:0070232|https://omim.org/entry/605479|Orphanet:99961	ordo_clinical_subtype|gard_rare
HGNC:3091	biolink:NamedThing	DYRK1A			mondo.json		http://identifiers.org/hgnc/3091		
MONDO:0011558	biolink:Disease	Usher syndrome type 2C	A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner.	OMIM:605472|GARD:0008497|MESH:C536492|DOID:0110839|ICD10CM:H35.5|NCIT:C153174	mondo.json	Usher syndrome, type IIc, Gpr98/Pdzd7, digenic|USH2C|Usher syndrome, type IIb, formerly|Usher syndrome type IIC|Usher syndrome, type IIb|Usher syndrome, type 2C|Usher syndrome, type IIC, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant|Usher syndrome, type 2C, autosomal recessive, digenic dominant|USHER syndrome, type IIC|Usher syndrome, type 2C, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant	http://purl.obolibrary.org/obo/MONDO_0011558	http://identifiers.org/mesh/C536492|DOID:0110839|NCIT:C153174|https://omim.org/entry/605472	gard_rare
MONDO:0011562	biolink:Disease	autosomal dominant Parkinson disease 4	A late onset Parkinson disease that has material basis in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22.	UMLS:C1854182|OMIM:605543|MESH:C565324|DOID:0060895	mondo.json	autosomal dominant Parkinson's disease 4|autosomal dominant Lewy body Parkinson disease 4|autosomal dominant Parkinson disease 4|autosomal dominant Parkinson disease type 4|Parkinson disease 4, autosomal dominant|Parkinson disease 4, autosomal dominant Lewy body|PARK4	http://purl.obolibrary.org/obo/MONDO_0011562	DOID:0060895|https://omim.org/entry/605543|http://identifiers.org/mesh/C565324|UMLS:C1854182	
MONDO:0035551	biolink:Disease	cathepsin a-related arteriopathy-strokes-leukoencephalopathy	A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.	ICD10CM:I67.8|Orphanet:575553	mondo.json	CARASAL	http://purl.obolibrary.org/obo/MONDO_0035551	Orphanet:575553	ordo_disorder
MONDO:0011561	biolink:Disease	Alzheimer disease 6	An Alzheimer's disease that is characterized by an associated with variation in the region 10q24.	MESH:C565325|OMIM:605526|DOID:0110038	mondo.json	plasma Beta-amyloid-42 level quantitative trait locus|Alzheimer disease type 6|Alzheimer disease 6, late-onset|Alzheimer disease 6|AD6|Alzheimer's disease type 6|Alzheimer disease 6, late onset|Alzheimer's disease 6	http://purl.obolibrary.org/obo/MONDO_0011561	https://omim.org/entry/605526|http://identifiers.org/mesh/C565325|DOID:0110038	
HGNC:3098	biolink:NamedThing	TOR1A			mondo.json		http://identifiers.org/hgnc/3098		
MONDO:0011564	biolink:Disease	cone-rod dystrophy 8	A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24.	UMLS:C1854180|DOID:0111014|OMIM:605549|MESH:C565322	mondo.json	CORD8|cone-rod dystrophy 8|cone-rod dystrophy type 8	http://purl.obolibrary.org/obo/MONDO_0011564	https://omim.org/entry/605549|DOID:0111014|http://identifiers.org/mesh/C565322|UMLS:C1854180	
HGNC:3097	biolink:NamedThing	DYSF			mondo.json		http://identifiers.org/hgnc/3097		
MONDO:0011563	biolink:Disease	fibromatosis, gingival, 2		GARD:0002474|MESH:C565323|OMIM:605544	mondo.json	gingival fibromatosis, 2|fibromatosis, gingival, hereditary, 2|GGF2|hereditary gingival fibromatosis, 2|HGF2|GINGF2|fibromatosis, gingival, 2|fibromatosis gingival, hereditary, 2	http://purl.obolibrary.org/obo/MONDO_0011563	https://omim.org/entry/605544|http://identifiers.org/mesh/C565323	
CL:1000682	biolink:Cell	kidney medulla interstitial cell		KUPO:0001092	mondo.json		http://purl.obolibrary.org/obo/CL_1000682		
MONDO:0011566	biolink:Disease	abdominal obesity-metabolic syndrome quantitative trait locus 2		OMIM:605572	mondo.json	Abdominal obesity-metabolic syndrome|Aoms2|abdominal obesity-metabolic syndrome quantitative trait locus type 2|abdominal obesity-metabolic syndrome quantitative trait locus 2	http://purl.obolibrary.org/obo/MONDO_0011566	https://omim.org/entry/605572	
MONDO:0011565	biolink:Disease	metabolic syndrome X		GARD:0009226|UMLS:C0524620|DOID:14221|OMIM:605552|MESH:D024821|ICD9:277.7|SCTID:237602007	mondo.json	dysmetabolic syndrome X|metabolic syndrome, protection against|abdominal obesity-metabolic syndrome quantitative trait locus 1|metabolic syndrome type X|metabolic syndrome 10|abdominal obesity-metabolic syndrome 1|abdominal obesity metabolic syndrome|AOMS1	http://purl.obolibrary.org/obo/MONDO_0011565	http://identifiers.org/mesh/D024821|https://omim.org/entry/605552|DOID:14221|UMLS:C0524620|http://identifiers.org/snomedct/237602007	
CL:1000681	biolink:Cell	kidney cortex interstitial cell		KUPO:0001091	mondo.json		http://purl.obolibrary.org/obo/CL_1000681		
MONDO:0011568	biolink:Disease	autosomal dominant nonsyndromic hearing loss 25	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene.	DOID:0110555|MESH:C565319|OMIM:605583|UMLS:C1854158	mondo.json	deafness, autosomal dominant type 25|SLC17A8 autosomal dominant nonsyndromic deafness|DFNA25|deafness, autosomal dominant 25|autosomal dominant nonsyndromic deafness caused by mutation in SLC17A8|autosomal dominant deafness 25|autosomal dominant nonsyndromic deafness type 25|autosomal dominant nonsyndromic deafness 25	http://purl.obolibrary.org/obo/MONDO_0011568	UMLS:C1854158|DOID:0110555|https://omim.org/entry/605583|http://identifiers.org/mesh/C565319	
MONDO:0011567	biolink:Disease	dilated cardiomyopathy 1K	A dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16.	MESH:C565320|OMIM:605582|UMLS:C1854159|DOID:0110437	mondo.json	cardiomyopathy, dilated, 1K|CMD1K|dilated cardiomyopathy type 1K	http://purl.obolibrary.org/obo/MONDO_0011567	DOID:0110437|https://omim.org/entry/605582|http://identifiers.org/mesh/C565320|UMLS:C1854159	
HGNC:3092	biolink:NamedThing	DYRK1B			mondo.json		http://identifiers.org/hgnc/3092		
MONDO:0023538	biolink:Disease	Kaplowitz-Bodurtha syndrome		UMLS:C2931361|MESH:C536893	mondo.json	congenital hypopituitarism and microphthalmia|hypopituitarism microphthalmia	http://purl.obolibrary.org/obo/MONDO_0023538	http://identifiers.org/mesh/C536893|UMLS:C2931361	
MONDO:0035557	biolink:Disease	obsolete intermediate atrioventricular septal defect		Orphanet:576242	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035557	Orphanet:576242	
MONDO:0023539	biolink:Disease	obsolete MONDO:0023539			mondo.json		http://purl.obolibrary.org/obo/MONDO_0023539		
MONDO:0035556	biolink:Disease	obsolete partial atrioventricular septal defect without ventricular hypoplasia		Orphanet:576235	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035556	Orphanet:576235	
MONDO:0035555	biolink:Disease	obsolete partial atrioventricular septal defect with ventricular hypoplasia		Orphanet:576232	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035555	Orphanet:576232	
MONDO:0035554	biolink:Disease	obsolete complete atrioventricular septal defect without ventricular hypoplasia		Orphanet:576227	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035554	Orphanet:576227	
HGNC:10360	biolink:NamedThing	RPL5			mondo.json		http://identifiers.org/hgnc/10360		
MONDO:0011560	biolink:Disease	systemic lupus erythematosus, susceptibility to, 3		OMIM:605480	mondo.json	systemic lupus erythematosus, susceptibility to, 3|SLEB3	http://purl.obolibrary.org/obo/MONDO_0011560	https://omim.org/entry/605480	predisposition
MONDO:0023530	biolink:Disease	kallikrein hypertension		MESH:C537707|UMLS:C1171349|HGNC:6357|GARD:0006811	mondo.json	kallikrein attenuated hypertension	http://purl.obolibrary.org/obo/MONDO_0023530	UMLS:C1171349|http://identifiers.org/mesh/C537707	gard_rare
MONDO:0011548	biolink:Disease	cerebral palsy, ataxic, autosomal recessive		GARD:0010451|OMIM:605388|ICD9:343.8	mondo.json	cerebral palsy ataxic|Acp|ataxic cerebral palsy|cerebral palsy, ataxic, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0011548	https://omim.org/entry/605388	gard_rare
MONDO:0011547	biolink:Disease	cataract 31 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CHMP4B gene.	MESH:C535343|Orphanet:98993|DOID:0110265|OMIM:605387|GARD:0010227	mondo.json	cataract, posterior polar, 3|CTPP3|CPP3|posterior polar cataract 3|early-onset non-syndromic cataract caused by mutation in CHMP4B|CHMP4B early-onset non-syndromic cataract|CTRCT31|cataract 31, multiple types	http://purl.obolibrary.org/obo/MONDO_0011547	http://identifiers.org/mesh/C535343|DOID:0110265|https://omim.org/entry/605387	
MONDO:0011549	biolink:Disease	hypotrichosis 1	Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene.	OMIM:605389|DOID:0110698	mondo.json	HTS|hypotrichosis type 1|HYPT1|hypotrichosis 1|hypotrichosis simplex, generalized, hereditary|APCDD1 hypotrichosis|hypotrichosis caused by mutation in APCDD1|hereditary generalized hypotrichosis simplex|HHS	http://purl.obolibrary.org/obo/MONDO_0011549	https://omim.org/entry/605389|DOID:0110698	
NCBITaxon:29930	biolink:OrganismalEntity	Ixodes pacificus		GC_ID:1	mondo.json	western blacklegged tick|California black legged tick	http://purl.obolibrary.org/obo/NCBITaxon_29930		
MONDO:0060510	biolink:Disease	Cohen-Gibson syndrome		UMLS:C4479654|OMIM:617561	mondo.json	Cohen-Gibson syndrome|COGIS	http://purl.obolibrary.org/obo/MONDO_0060510	UMLS:C4479654|https://omim.org/entry/617561	
MONDO:0035562	biolink:Disease	acquired human prion disease		Orphanet:576360	mondo.json	infectious human prion disease	http://purl.obolibrary.org/obo/MONDO_0035562	Orphanet:576360	ordo_group_of_disorders
MONDO:0011551	biolink:Disease	TH-deficient dopa-responsive dystonia	Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.	UMLS:C2673535|GARD:0001902|OMIM:605407|SCTID:715827001|Orphanet:101150	mondo.json	autosomal recessive dopa-responsive dystonia|Parkinsonism, infantile, autosomal recessive|DOPA responsive dystonia, autosomal recessive|dystonia, DOPA responsive, autosomal recessive|Segawa syndrome, autosomal recessive|Segawa syndrome, recessive|tyrosine hydroxylase-deficient dopa-responsive dystonia|DYT5b|autosomal recessive Segawa syndrome|Dopa-responsive dystonia, autosomal recessive|dopa-responsive dystonia, autosomal recessive|dystonia, Dopa-responsive, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0011551	UMLS:C2673535|Orphanet:101150|https://omim.org/entry/605407|http://identifiers.org/snomedct/715827001	ordo_disease
MONDO:0011550	biolink:Disease	fibromatosis, gingival, with hypertrichosis and intellectual disability		OMIM:605400|UMLS:C1854306|MESH:C565331	mondo.json	fibromatosis, gingival, with hypertrichosis and mental retardation|fibromatosis, gingival, with hypertrichosis and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0011550	https://omim.org/entry/605400|http://identifiers.org/mesh/C565331|UMLS:C1854306	
MONDO:0035561	biolink:Disease	sporadic human prion disease		Orphanet:576356	mondo.json	idiopathic human prion disease	http://purl.obolibrary.org/obo/MONDO_0035561	Orphanet:576356	ordo_group_of_disorders
MONDO:0011553	biolink:Disease	autosomal recessive nonsyndromic hearing loss 26	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31.	OMIM:605428|MESH:C565329|DOID:0110484|UMLS:C1854275	mondo.json	autosomal recessive nonsyndromic deafness 26|autosomal recessive nonsyndromic deafness type 26|deafness, autosomal recessive 26|autosomal recessive deafness 26|DFNB26	http://purl.obolibrary.org/obo/MONDO_0011553	UMLS:C1854275|DOID:0110484|https://omim.org/entry/605428|http://identifiers.org/mesh/C565329	
MONDO:0011552	biolink:Disease	schizophrenia 10	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15.	DOID:0070086|OMIM:605419|MESH:D012560	mondo.json	schizophrenia 10|catatonia, periodic|schizophrenia susceptibility locus, chromosome 15Q15-related|SCZD10	http://purl.obolibrary.org/obo/MONDO_0011552	DOID:0070086|https://omim.org/entry/605419|http://identifiers.org/mesh/D012560	
MONDO:0011555	biolink:Disease	radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).	OMIMPS:605432|MESH:C565328|SCTID:721882001|Orphanet:71289	mondo.json	radioulnar synostosis with amegakaryocytic thrombocytopenia|RUSAT|ATRUS syndrome	http://purl.obolibrary.org/obo/MONDO_0011555	Orphanet:71289|http://identifiers.org/snomedct/721882001|https://omim.org/phenotypicSeries/PS605432|http://identifiers.org/mesh/C565328	ordo_malformation_syndrome
MONDO:0011554	biolink:Disease	obsolete deafness, nonsyndromic, modifier 1		OMIM:605429	mondo.json	deafness, autosomal recessive 26, modifier OF|deafness, autosomal recessive 26, modifier of|deafness, nonsyndromic, modifier Of, 1|Dfnb26, modifier of|Dfnb26, suppressor of|deafness, nonsyndromic, modifier 1|DFNB26M|DFNM1	http://purl.obolibrary.org/obo/MONDO_0011554	https://omim.org/entry/605429	
MONDO:0011557	biolink:Disease	radiation sensitivity/chromosome instability syndrome, autosomal dominant		UMLS:C1854244|OMIM:605463|MESH:C565326	mondo.json	radiation sensitivity/chromosome instability syndrome, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0011557	http://identifiers.org/mesh/C565326|UMLS:C1854244|https://omim.org/entry/605463	n_of_one
MONDO:0011556	biolink:Disease	basal cell carcinoma, susceptibility to, 1		GARD:0009303|OMIM:605462	mondo.json	basal cell carcinoma, somatic|basal cell carcinoma, nonsyndromic|basal cell carcinoma, multiple|BCC1|basal cell carcinoma, susceptibility to, 1|multiple basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0011556	https://omim.org/entry/605462	predisposition
CHR:9606-chr9q21.13	biolink:NamedThing	9q21.13 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr9q21.13		
MONDO:0023528	biolink:Disease	KSHV inflammatory cytokine syndrome	A syndrome caused by Kaposi sarcoma-associated herpesvirus (KSHV) infection. It manifests with fever, weight loss, and fluid retention in the legs or abdomen. Patients are at risk of developing KSHV-related cancers including Kaposi sarcoma and lymphoma.	UMLS:C4086533|GARD:0010827|NCIT:C125711	mondo.json	KICS|Kaposi-sarcoma associated Herpesvirus (KSHV) inflammatory cytokine syndrome|KSHV inflammatory cytokine syndrome	http://purl.obolibrary.org/obo/MONDO_0023528	UMLS:C4086533|NCIT:C125711	gard_rare
HGNC:24969	biolink:NamedThing	NPRL2			mondo.json		http://identifiers.org/hgnc/24969		
MONDO:0023521	biolink:Disease	Judge Misch wright syndrome		MESH:C537692|GARD:0003061|UMLS:C2931590	mondo.json	keratodermia palmoplantar periorificial|dry skin, photophobia hyperkeratosis, abnormal fingernails|palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia	http://purl.obolibrary.org/obo/MONDO_0023521	UMLS:C2931590|http://identifiers.org/mesh/C537692	gard_rare
MONDO:0060507	biolink:Disease	retinal dystrophy with or without macular staphyloma		UMLS:C4479651|OMIM:617547	mondo.json	retinal dystrophy with macular staphyloma|RDMS|retinal dystrophy with or without macular staphyloma	http://purl.obolibrary.org/obo/MONDO_0060507	UMLS:C4479651|https://omim.org/entry/617547	
MONDO:0011537	biolink:Disease	macrocephaly-autism syndrome	An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23.	UMLS:C1854416|MESH:C565342|OMIM:605309|Orphanet:210548|DOID:0060867	mondo.json	macrocephaly-intellectual disability-autism syndrome|macrocephaly/autism syndrome	http://purl.obolibrary.org/obo/MONDO_0011537	https://omim.org/entry/605309|http://identifiers.org/mesh/C565342|UMLS:C1854416|Orphanet:210548|DOID:0060867	ordo_disease
MONDO:0011536	biolink:Disease	optic atrophy 4		UMLS:C1854430|MESH:C565343|DOID:0111440|OMIM:605293	mondo.json	optic atrophy 4|OPA4	http://purl.obolibrary.org/obo/MONDO_0011536	https://omim.org/entry/605293|http://identifiers.org/mesh/C565343|DOID:0111440|UMLS:C1854430	
MONDO:0060502	biolink:Disease	neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		Orphanet:521426|UMLS:C4479631|OMIM:617527	mondo.json	NDMSBA|neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	http://purl.obolibrary.org/obo/MONDO_0060502	Orphanet:521426|UMLS:C4479631|https://omim.org/entry/617527	ordo_malformation_syndrome
MONDO:0011539	biolink:Disease	nemaline myopathy 5	Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community.	Orphanet:98902|DOID:0110936|OMIM:605355|GARD:0008334|MESH:C538397|UMLS:C1854380	mondo.json	NEM5|nemaline myopathy 5|ANM|TNNT1 nemaline myopathy|Amish nemaline myopathy|nemaline myopathy 5, Amish type|nemaline myopathy caused by mutation in TNNT1|nemaline myopathy, Amish type|nemaline myopathy type 5|nemaline myopathy, caused by mutation in the troponin t1 gene	http://purl.obolibrary.org/obo/MONDO_0011539	http://identifiers.org/mesh/C538397|https://omim.org/entry/605355|Orphanet:98902|UMLS:C1854380|DOID:0110936	ordo_disease
MONDO:0011538	biolink:Disease	frontoocular syndrome		UMLS:C1854405|MESH:C565340|OMIM:605321	mondo.json	frontoocular syndrome	http://purl.obolibrary.org/obo/MONDO_0011538	https://omim.org/entry/605321|http://identifiers.org/mesh/C565340|UMLS:C1854405	
MONDO:0011540	biolink:Disease	spinocerebellar ataxia type 14	Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.	GARD:0009867|OMIM:605361|MESH:C537196|UMLS:C4304883|SCTID:719210007|DOID:0050964|Orphanet:98763|UMLS:C1854369	mondo.json	SCA14|spinocerebellar ataxia 14|spinocerebellar ataxia type 14	http://purl.obolibrary.org/obo/MONDO_0011540	DOID:0050964|UMLS:C1854369|http://identifiers.org/snomedct/719210007|http://identifiers.org/mesh/C537196|https://omim.org/entry/605361|Orphanet:98763	ordo_disease
HGNC:10345	biolink:NamedThing	RPL35A			mondo.json		http://identifiers.org/hgnc/10345		
MONDO:0011542	biolink:Disease	psoriasis 6, susceptibility to		DOID:0111290|OMIM:605364	mondo.json	PSORS6|psoriasis susceptibility 6|psoriasis 6, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0011542	https://omim.org/entry/605364|DOID:0111290	
MONDO:0011541	biolink:Disease	dilated cardiomyopathy 1J	An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.	Orphanet:217622|DOID:0110440|MESH:C565337|UMLS:C1854368|OMIM:605362	mondo.json	sensorineural deafness with dilated cardiomyopathy|autosomal dominant dilated cardiomyopathy with sensorineural hearing loss|dilated cardiomyopathy 1J|cardiomyopathy, dilated, type 1J|neurosensory hearing loss with dilated cardiomyopathy|CMD1J|neurosensory deafness with dilated cardiomyopathy|dilated cardiomyopathy type 1J|cardiomyopathy, dilated, 1J|EYA4 familial dilated cardiomyopathy|cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant|familial dilated cardiomyopathy caused by mutation in EYA4|sensorineural hearing loss with dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0011541	UMLS:C1854368|DOID:0110440|Orphanet:217622|https://omim.org/entry/605362|http://identifiers.org/mesh/C565337	ordo_disease
MONDO:0011544	biolink:Disease	paragangliomas 3	Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene.	OMIM:605373|UMLS:C1854336|GARD:0010545|MESH:C565335	mondo.json	PGL3|SDHC paraganglioma|glomus tumors, familial, 3|SDHC-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 3)|paragangliomas type 3|paragangliomas 3|paraganglioma caused by mutation in SDHC	http://purl.obolibrary.org/obo/MONDO_0011544	http://identifiers.org/mesh/C565335|UMLS:C1854336|https://omim.org/entry/605373	gard_rare
MONDO:0011543	biolink:Disease	obsolete BRCA3		UMLS:C1854365|OMIM:605365|MESH:C565336	mondo.json	breast cancer 3|moved to 114480|BRCA3|Brcax	http://purl.obolibrary.org/obo/MONDO_0011543	http://identifiers.org/mesh/C565336|UMLS:C1854365|https://omim.org/entry/605365	
MONDO:0011546	biolink:Disease	heterotaxy, visceral, 2, autosomal		UMLS:C1415817|OMIM:605376	mondo.json	heterotaxy, visceral, 2, autosomal|DTGA2|Htx|HTX2|transposition of the great arteries, dextro-looped 2	http://purl.obolibrary.org/obo/MONDO_0011546	UMLS:C1415817|https://omim.org/entry/605376	
MONDO:0011545	biolink:Disease	autosomal dominant nocturnal frontal lobe epilepsy 3	Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNB2 gene.	MESH:C565334|UMLS:C1854335|DOID:0060684|OMIM:605375	mondo.json	autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNB2|epilepsy, nocturnal frontal lobe, 3|autosomal dominant nocturnal frontal lobe epilepsy type 3|nocturnal frontal lobe epilepsy 3|CHRNB2 autosomal dominant nocturnal frontal lobe epilepsy|ENFL3|epilepsy, nocturnal frontal lobe, type 3	http://purl.obolibrary.org/obo/MONDO_0011545	http://identifiers.org/mesh/C565334|UMLS:C1854335|DOID:0060684|https://omim.org/entry/605375	
MONDO:0023595	biolink:Disease	congenital myotonic dystrophy	Myotonic dystrophy that is present at birth.	NCIT:C123308|UMLS:C0410226|GARD:0009134	mondo.json	congenital myotonic dystrophy|MYOTONIC dystrophy CONGEN|dystrophies, Congenital Myotonic|dystrophy, Congenital Myotonic|Congenital Myotonic dystrophies|Myotonic dystrophy, Congenital|Myotonic dystrophies, Congenital|Congenital Myotonic dystrophy|Congenital myotonic dystrophy	http://purl.obolibrary.org/obo/MONDO_0023595	UMLS:C0410226|NCIT:C123308	gard_rare
MONDO:0023597	biolink:Disease	laryngeal papillomatosis	Laryngeal papillomatosis is a form of recurrent respiratory papillomatosis where tumors (papillomas) grow in the larynx (voice box).Symptoms usually begin with hoarseness and/or a change in the voice.Some people mayexperience difficulty breathing (dyspnea) and/or experience other life-threatening complications if the papillomas block the airway. The tumors may vary in size and grow very quickly. They often grow back even when removed.Laryngeal papillomatosisis caused by two types of human papilloma virus (HPV), called HPV 6 and HPV 11.	SCTID:232457008|UMLS:C0396072|MESH:C537876|GARD:0006864	mondo.json	juvenile laryngeal papillomatosis (subtype)|recurrent laryngeal papillomatosis|laryngeal papillomatosis|recurrent laryngeal papillomatosis (subtype)|juvenile laryngeal papillomatosis|Warts in the throat	http://purl.obolibrary.org/obo/MONDO_0023597	http://identifiers.org/snomedct/232457008|UMLS:C0396072|http://identifiers.org/mesh/C537876	gard_rare
MONDO:0023599	biolink:Disease	mesomelic dysplasia	A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae).	SCTID:205473008|NCIT:C121156|UMLS:C0410536	mondo.json	mesomelic dysplasia|Mesomelic Dysplasia|Mesomelic dysplasia|mesomelic dysplasias|Mesomelic dwarf	http://purl.obolibrary.org/obo/MONDO_0023599	NCIT:C121156|UMLS:C0410536|http://identifiers.org/snomedct/205473008	
HGNC:10306	biolink:NamedThing	RPL15			mondo.json		http://identifiers.org/hgnc/10306		
HGNC:12974	biolink:NamedThing	RNF113A			mondo.json		http://identifiers.org/hgnc/12974		
HP:0002733	biolink:PhenotypicFeature	Abnormality of the lymph nodes	A lymph node abnormality.	UMLS:C0149727	mondo.json	Abnormality of the lymph nodes|Abnormal lymph node histology	http://purl.obolibrary.org/obo/HP_0002733		
HGNC:10313	biolink:NamedThing	RPL21			mondo.json		http://identifiers.org/hgnc/10313		
MONDO:0035500	biolink:Disease	congenital primary lymphedema of Gordon	A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy.	Orphanet:569821	mondo.json	VEGFC-related congenital primary lymphedema	http://purl.obolibrary.org/obo/MONDO_0035500	Orphanet:569821	ordo_disorder
HP:0002748	biolink:PhenotypicFeature	Rickets	Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.	SNOMEDCT_US:41345002|MSH:D012279|UMLS:C0035579	mondo.json	Weak and soft bones	http://purl.obolibrary.org/obo/HP_0002748		
MONDO:0023581	biolink:Disease	Kuster syndrome		UMLS:C2931741|MESH:C538126|GARD:0003152	mondo.json	cleft lip palate lip pits limb deficiency|cleft lip and palate, lower lip pits, and limb deficiency defects	http://purl.obolibrary.org/obo/MONDO_0023581	http://identifiers.org/mesh/C538126|UMLS:C2931741	gard_rare
HGNC:10327	biolink:NamedThing	RPL26			mondo.json		http://identifiers.org/hgnc/10327		
MONDO:0035511	biolink:Disease	ricin poisoning	A rare disorder due to poisoning characterized by acute onset of potentially life-threatening illness following ingestion, inhalation, or injection of ricin, a lectin present in the seeds of <i>Ricinus communis</i>, the castor oil plant. Clinical presentation depends on the route of administration, inhalation being the most toxic route, followed by oral ingestion. Presenting signs and symptoms include nausea, vomiting, diarrhea, hematemesis, and melena (upon ingestion), cough, wheezing, dyspnea, sore throat, and congestion (upon inhalation), and erythema, induration, blisters, capillary leak syndrome, and localized necrosis (upon injection). The condition can progress to seizures, shock, organ failure, pulmonary edema, and respiratory failure.	ICD10CM:T62.2|Orphanet:570470	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035511	Orphanet:570470	ordo_disorder
MONDO:0023573	biolink:Disease	Kozlowski Warren Fisher syndrome		UMLS:C2931546|MESH:C537614|GARD:0000353	mondo.json	cloverleaf skull generalised bone dysplasia	http://purl.obolibrary.org/obo/MONDO_0023573	http://identifiers.org/mesh/C537614|UMLS:C2931546	gard_rare
MONDO:0023575	biolink:Disease	Krauss Herman Holmes syndrome		UMLS:C2931549|MESH:C537618|GARD:0003143	mondo.json	telecanthus, hypertelorism, strabismus, and pes cavus syndrome	http://purl.obolibrary.org/obo/MONDO_0023575	http://identifiers.org/mesh/C537618|UMLS:C2931549	gard_rare
NCBITaxon:713	biolink:OrganismalEntity	Actinobacillus		PMID:15143001|GC_ID:11|PMID:1736960	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_713		
MONDO:0023577	biolink:Disease	Krieble Bixler syndrome		MESH:C537619|UMLS:C2931550|GARD:0003144	mondo.json	autosomal dominant blepharophimosis with multiple congenital anomalies	http://purl.obolibrary.org/obo/MONDO_0023577	UMLS:C2931550|http://identifiers.org/mesh/C537619	gard_rare
MONDO:0023579	biolink:Disease	Kuster Majewski Hammerstein syndrome		MESH:C538125|OMIM:225280|GARD:0003151|UMLS:C2931740	mondo.json	alopecia macular degeneration growth retardation|alopecia, macular degeneration, and growth retardation	http://purl.obolibrary.org/obo/MONDO_0023579	UMLS:C2931740|http://identifiers.org/mesh/C538125	gard_rare
HP:0002715	biolink:PhenotypicFeature	Abnormality of the immune system	An abnormality of the immune system.	UMLS:C4021753	mondo.json	Immunological abnormality|Abnormality of the immune system	http://purl.obolibrary.org/obo/HP_0002715		
HP:0002716	biolink:PhenotypicFeature	Lymphadenopathy	Enlargment (swelling) of a lymph node.	UMLS:C0497156|MSH:D000072281|SNOMEDCT_US:30746006	mondo.json	Swollen lymph nodes|Lymph node hyperplasia	http://purl.obolibrary.org/obo/HP_0002716		
NCBITaxon:712	biolink:OrganismalEntity	Pasteurellaceae		PMID:10843050|PMID:15388716|PMID:15280320|GC_ID:11|PMID:29923825|PMID:2223605|PMID:17220461	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_712		
HP:0002719	biolink:PhenotypicFeature	Recurrent infections	Increased susceptibility to infections.	UMLS:C0239998	mondo.json	Susceptibility to infection|Frequent infections|infections, recurrent|Increased frequency of infection|Frequent, severe infections|Recurrent infections|Predisposition to infections	http://purl.obolibrary.org/obo/HP_0002719		
MONDO:0023571	biolink:Disease	Kozlowski Rafinski Klicharska syndrome		GARD:0003140|MESH:C537509|UMLS:C2931513	mondo.json	metaphyseal and epiphyseal dysplasia with unusual facies and cataract	http://purl.obolibrary.org/obo/MONDO_0023571	http://identifiers.org/mesh/C537509|UMLS:C2931513	gard_rare
HP:0002717	biolink:PhenotypicFeature	Adrenal overactivity		UMLS:C4025685	mondo.json		http://purl.obolibrary.org/obo/HP_0002717		
HP:0002718	biolink:PhenotypicFeature	Recurrent bacterial infections	Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.	UMLS:C4020846|SNOMEDCT_US:428875002|UMLS:C1844383|UMLS:C2748958	mondo.json	Recurrent bacterial infections|Frequent pyogenic infections|Susceptibility to pyogenic infection|Prone to bacterial infection|Frequent bacterial infections|Recurrent major bacterial infections|Recurrent pyogenic infections|Bacterial infections, recurrent|Increased susceptibility to bacterial infections	http://purl.obolibrary.org/obo/HP_0002718		
MONDO:0011595	biolink:Disease	nonsyndromic congenital nail disorder 7		GARD:0009761|SCTID:403281007|Orphanet:79144|OMIM:605779|DOID:0080085|MESH:C538333|UMLS:C1853984	mondo.json	nonsyndromic congenital nail disorder type 7|NDNC7|Iso-Kikuchi syndrome|congenital onychodysplasia of the index fingers|isolated congenital nail dysplasia|isolated congenital onychodysplasia|nail disorder, nonsyndromic congenital, 7|nail dysplasia, isolated congenital|COIF|COIF syndrome|onychodysplasia, isolated congenital|congenital isolated nail dysplasia	http://purl.obolibrary.org/obo/MONDO_0011595	http://identifiers.org/mesh/C538333|DOID:0080085|https://omim.org/entry/605779|Orphanet:79144|http://identifiers.org/snomedct/403281007|UMLS:C1853984	ordo_disease
MONDO:0011594	biolink:Disease	ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis		OMIM:605756|UMLS:C3148970	mondo.json	ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis|gonadal dysgenesis, hypergonadotropic, 20 type, with short stature and recurrent metabolic acidosis	http://purl.obolibrary.org/obo/MONDO_0011594	https://omim.org/entry/605756|UMLS:C3148970	
MONDO:0011597	biolink:Disease	atopic dermatitis 3	An atopic dermatitis associated with variation in the region 20p.	MESH:C565292|DOID:0110099|OMIM:605804|UMLS:C1853964	mondo.json	dermatitis, ATOPIC, 3|atopic dermatitis type 3|atopic dermatitis with asthma|dermatitis, Atopic, with asthma|ATOD3|dermatitis, atopic, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0011597	http://identifiers.org/mesh/C565292|https://omim.org/entry/605804|DOID:0110099|UMLS:C1853964	
MONDO:0011596	biolink:Disease	atopic dermatitis 2	Any atopic eczema in which the cause of the disease is a mutation in the FLG gene.	DOID:0110098|OMIM:605803|UMLS:C1853965|MESH:C565293	mondo.json	dermatitis, ATOPIC, 2|dermatitis, Atopic, type 2|atopic dermatitis type 2|FLG atopic eczema|ATOD2|atopic eczema caused by mutation in FLG|dermatitis, atopic, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0011596	http://identifiers.org/mesh/C565293|https://omim.org/entry/605803|DOID:0110098|UMLS:C1853965	
MONDO:0011599	biolink:Disease	birdshot chorioretinopathy	Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.	DOID:0111079|UMLS:C1853959|Orphanet:179|MESH:C537630|GARD:0005926|SCTID:231981005|UMLS:C0339402|OMIM:605808	mondo.json	birdshot chorioretinitis|BSCR|birdshot chorioretinopathy|vitiliginous choroiditis|multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk|Bscr|birdshot retinochoroiditis|birdshot retinochoroidopathy	http://purl.obolibrary.org/obo/MONDO_0011599	UMLS:C1853959|Orphanet:179|DOID:0111079|http://identifiers.org/mesh/C537630|https://omim.org/entry/605808|http://identifiers.org/snomedct/231981005	gard_rare|ordo_disease
GO:0015399	biolink:NamedThing	primary active transmembrane transporter activity	Enables the transfer of a solute from one side of a membrane to the other, up the solute's concentration gradient, by binding the solute and undergoing a series of conformational changes. Transport works equally well in either direction and is powered by a primary energy source, directly using ATP. Primary energy sources known to be coupled to transport are chemical, electrical and solar sources.		mondo.json	primary active transporter	http://purl.obolibrary.org/obo/GO_0015399		
MONDO:0011598	biolink:Disease	atopic dermatitis 4	An atopic dermatitis associated with variation in the region 17q25.3.	UMLS:C1853963|DOID:0110100|MESH:C565291|OMIM:605805	mondo.json	dermatitis, ATOPIC, 4|atopic dermatitis type 4|ATOD4|dermatitis, atopic, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0011598	http://identifiers.org/mesh/C565291|https://omim.org/entry/605805|DOID:0110100|UMLS:C1853963	
MONDO:0035525	biolink:Disease	blepharophimosis-ptosis-epicanthus inversus syndrome type 2		OMIM:110100|Orphanet:572361	mondo.json	blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure|BPES type 2	http://purl.obolibrary.org/obo/MONDO_0035525	Orphanet:572361	ordo_subtype_of_a_disorder
HGNC:24928	biolink:NamedThing	VPS37A			mondo.json		http://identifiers.org/hgnc/24928		
MONDO:0035524	biolink:Disease	blepharophimosis-ptosis-epicanthus inversus syndrome type 1		Orphanet:572354|OMIM:110100	mondo.json	BPES type 1|blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure	http://purl.obolibrary.org/obo/MONDO_0035524	Orphanet:572354	ordo_subtype_of_a_disorder
MONDO:0011591	biolink:Disease	cataract 26 multiple types	A cataract that has material basis in variation in the region 9q13-q22.	UMLS:C1854003|OMIM:605749|MESH:C565298|DOID:0110246|Orphanet:98984	mondo.json	cataract 26, multiple types|cataract, autosomal recessive, early-onset, pulverulent|CTRCT26	http://purl.obolibrary.org/obo/MONDO_0011591	https://omim.org/entry/605749|http://identifiers.org/mesh/C565298|UMLS:C1854003|DOID:0110246	
MONDO:0035521	biolink:Disease	blepharophimosis-ptosis-epicanthus inversus syndrome plus		Orphanet:572333	mondo.json	3q23 microdeletion syndrome|BPES plus	http://purl.obolibrary.org/obo/MONDO_0035521	Orphanet:572333	ordo_disorder
MONDO:0011590	biolink:Disease	anisomastia		OMIM:605746|MESH:C565299	mondo.json	anisomastia	http://purl.obolibrary.org/obo/MONDO_0011590	http://identifiers.org/mesh/C565299|https://omim.org/entry/605746	
MONDO:0011593	biolink:Disease	seizures, benign familial infantile, 2		UMLS:C1853995|MESH:C565296|OMIM:605751	mondo.json	BFIS2|convulsions, benign familial infantile, 2|seizures, benign familial infantile, type 2|seizures, benign familial infantile, 2	http://purl.obolibrary.org/obo/MONDO_0011593	http://identifiers.org/mesh/C565296|https://omim.org/entry/605751|UMLS:C1853995	
MONDO:0011592	biolink:Disease	exudative vitreoretinopathy 3		DOID:0111409|MESH:C565297|UMLS:C1854002|OMIM:605750	mondo.json	exudative vitreoretinopathy 3|EVR3	http://purl.obolibrary.org/obo/MONDO_0011592	https://omim.org/entry/605750|http://identifiers.org/mesh/C565297|DOID:0111409|UMLS:C1854002	
NCBITaxon:727	biolink:OrganismalEntity	Haemophilus influenzae		GC_ID:11	mondo.json	Mycobacterium influenzae|Coccobacillus pfeifferi|Bacterium influenzae|Influenza-bacillus|Haemophilus meningitidis	http://purl.obolibrary.org/obo/NCBITaxon_727		
MONDO:0023563	biolink:Disease	Kotzot-Richter syndrome		UMLS:C2931399|OMIM:203285|GARD:0003134|MESH:C537025	mondo.json	albinism with immune and hematologic defects|oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies	http://purl.obolibrary.org/obo/MONDO_0023563	http://identifiers.org/mesh/C537025|UMLS:C2931399	gard_rare
NCBITaxon:724	biolink:OrganismalEntity	Haemophilus		GC_ID:11|PMID:1736960	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_724		
HGNC:24945	biolink:NamedThing	GPIHBP1			mondo.json		http://identifiers.org/hgnc/24945		
MONDO:0035529	biolink:Disease	infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia	A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly.	Orphanet:572428	mondo.json	OAS1 deficiency|OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia	http://purl.obolibrary.org/obo/MONDO_0035529	Orphanet:572428	ordo_disorder
MONDO:0023567	biolink:Disease	Kozlowski Brown Hardwick syndrome		UMLS:C2931511|MESH:C537506|GARD:0003136	mondo.json	unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0023567	UMLS:C2931511|http://identifiers.org/mesh/C537506	gard_rare
MONDO:0023569	biolink:Disease	Kozlowski Ouvrier syndrome		UMLS:C2931512|MESH:C537508|GARD:0003139	mondo.json	agenesis of the corpus callosum with mental retardation and osseous lesions|agenesis of the corpus callosum with intellectual disability and osseous lesions	http://purl.obolibrary.org/obo/MONDO_0023569	UMLS:C2931512|http://identifiers.org/mesh/C537508	gard_rare
HP:0002725	biolink:PhenotypicFeature	Systemic lupus erythematosus	A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.	UMLS:C0024141|SNOMEDCT_US:55464009|MSH:D008180	mondo.json	SLE	http://purl.obolibrary.org/obo/HP_0002725		
NCBITaxon:723	biolink:OrganismalEntity	Actinobacillus ureae		GC_ID:11	mondo.json	Pasterella haemolytica var. ureae|Pasteurella ureae	http://purl.obolibrary.org/obo/NCBITaxon_723		
MONDO:0023561	biolink:Disease	Koone-Rizzo-Elias syndrome		MESH:C537023|GARD:0003131|UMLS:C2931397	mondo.json	Koone Rizzo Elias syndrome|ichthyosis, mental retardation and asymptomatic spasticity|ichthyosis, intellectual disability and asymptomatic spasticity	http://purl.obolibrary.org/obo/MONDO_0023561	http://identifiers.org/mesh/C537023|UMLS:C2931397	gard_rare
MONDO:0011584	biolink:Disease	Fanconi anemia complementation group D1	Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.	DOID:0111089|UMLS:C1838457|MESH:C563980|Orphanet:319462|SCTID:766707003|NCIT:C125705|OMIM:605724	mondo.json	Fanconi anemia, complementation group D1|inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations|Fad1|FAD1|Fanconi anemia complementation group D1|FANCD1	http://purl.obolibrary.org/obo/MONDO_0011584	Orphanet:319462|http://identifiers.org/snomedct/766707003|DOID:0111089|https://omim.org/entry/605724|UMLS:C1838457|http://identifiers.org/mesh/C563980|NCIT:C125705	ordo_disease
MONDO:0011583	biolink:Disease	cerebral amyloid angiopathy, APP-related	A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3.	UMLS:C3888307|DOID:0070028|UMLS:C2751494|UMLS:C2751536|UMLS:C3888309|OMIM:605714|UMLS:C3888308	mondo.json	amyloidosis, hereditary, with cerebral hemorrhage, Dutch variant|cerebral amyloid angiopathy, APP-related, Italian variant|cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants|cerebral amyloid angiopathy, APP-related, Flemish variant|amyloidosis, Cerebroarterial, APP-related|cerebral amyloid angiopathy, APP-related, Iowa variant|HCHWAD|cerebral amyloid angiopathy, APP-related|APP-related cerebral amyloid angiopathy|cerebral amyloid angiopathy, APP-related, Arctic variant|cerebral amyloid angiopathy, APP-related, Dutch variant	http://purl.obolibrary.org/obo/MONDO_0011583	DOID:0070028|UMLS:C3888309|UMLS:C3888308|UMLS:C3888307|https://omim.org/entry/605714|UMLS:C2751536|UMLS:C2751494	
HGNC:10301	biolink:NamedThing	RPL11			mondo.json		http://identifiers.org/hgnc/10301		
MONDO:0011586	biolink:Disease	otosclerosis 2		OMIM:605727|UMLS:C1854022|MESH:C565302	mondo.json	otosclerosis 2|OTSC2	http://purl.obolibrary.org/obo/MONDO_0011586	https://omim.org/entry/605727|http://identifiers.org/mesh/C565302|UMLS:C1854022	
MONDO:0011585	biolink:Disease	autosomal recessive distal spinal muscular atrophy 2	Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset).	DOID:0111065|MESH:C535715|SCTID:763533003|GARD:0010133|Orphanet:139552|OMIM:605726	mondo.json	spinal muscular atrophy, Jerash type|spinal muscular atrophy Jerash type|motor neuropathy, distal, Jerash type|hereditary motor neuropathy, Jerash type|autosomal recessive distal spinal muscular atrophy type 2|MNDJ|spinal muscular atrophy, distal, autosomal recessive, type 2|distal hereditary motor neuropathy Jerash type|DSMA2|dHMNJ|neuronopathy, distal hereditary motor, Jerash type|distal hereditary motor neuropathy, Jerash type|spinal muscular atrophy, distal, autosomal recessive, 2|HMNJ|neuropathy, distal hereditary motor, Jerash type	http://purl.obolibrary.org/obo/MONDO_0011585	Orphanet:139552|DOID:0111065|https://omim.org/entry/605726|http://identifiers.org/snomedct/763533003|http://identifiers.org/mesh/C535715	ordo_disease
MONDO:0011588	biolink:Disease	platelet-type bleeding disorder 12	An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.	DOID:0111058|UMLS:C2751535|MESH:C567786|OMIM:605735	mondo.json	BDPLT12|prostaglandin-endoperoxide synthase 1 deficiency, platelet|platelet prostaglandin-endoperoxide synthase 1 deficiency|platelet cyclooxygenase 1 deficiency|PGHS1 deficiency|platelet COX1 deficiency|bleeding disorder, platelet-type, 12	http://purl.obolibrary.org/obo/MONDO_0011588	http://identifiers.org/mesh/C567786|DOID:0111058|https://omim.org/entry/605735|UMLS:C2751535	
MONDO:0011587	biolink:Disease	cataract 25	A cataract that has material basis in variation in the region 15q21-q22.	DOID:0110254|MESH:C565301|OMIM:605728	mondo.json	CTRCT25|central pouch-like cataract with sutural opacities|CCSSO|central saccular cataract with sutural opacities|cataract, central pouch-like, with sutural opacities|cataract type 25|cataract, central saccular, with sutural opacities|cataract 25	http://purl.obolibrary.org/obo/MONDO_0011587	https://omim.org/entry/605728|http://identifiers.org/mesh/C565301|DOID:0110254	
MONDO:0011589	biolink:Disease	microphthalmia with coloboma 2		UMLS:C1854018|OMIM:605738|MESH:C565300	mondo.json	microphthalmia, colobomatous, isolated 2|microphthalmia, isolated, with coloboma 2|MCOPCB2	http://purl.obolibrary.org/obo/MONDO_0011589	https://omim.org/entry/605738|http://identifiers.org/mesh/C565300|UMLS:C1854018	
HP:0002721	biolink:PhenotypicFeature	Immunodeficiency	Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.	MSH:D007153|SNOMEDCT_US:234532001|UMLS:C0021051	mondo.json	Decreased immune function|Immune deficiency	http://purl.obolibrary.org/obo/HP_0002721		
MONDO:0035534	biolink:Disease	DONSON-related microcephaly-short stature-limb abnormalities spectrum	A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.	Orphanet:572761	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035534	Orphanet:572761	ordo_disorder
MONDO:0011580	biolink:Disease	cerebellar ataxia and hypergonadotropic hypogonadism		UMLS:C1854064|OMIM:605672|MESH:C565308	mondo.json	cerebellar ataxia and hypergonadotropic hypogonadism	http://purl.obolibrary.org/obo/MONDO_0011580	https://omim.org/entry/605672|http://identifiers.org/mesh/C565308|UMLS:C1854064	
MONDO:0011582	biolink:Disease	multiple mitochondrial dysfunctions syndrome 1	Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene.	UMLS:C3276432|OMIM:605711|DOID:0080133|Orphanet:401869|UMLS:CN226135	mondo.json	multiple mitochondrial dysfunctions syndrome type 1|NFU1 fatal multiple mitochondrial dysfunctions syndrome|Mmds|fatal multiple mitochondrial dysfunctions syndrome caused by mutation in NFU1|NFU1 deficiency|multiple mitochondrial dysfunctions syndrome 1|MMDS1	http://purl.obolibrary.org/obo/MONDO_0011582	UMLS:CN226135|Orphanet:401869|DOID:0080133|https://omim.org/entry/605711|UMLS:C3276432	ordo_disease
MONDO:0011581	biolink:Disease	arrhythmogenic cardiomyopathy with woolly hair and keratoderma	A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including woolly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features.	DOID:0090128|OMIM:605676|Orphanet:65282|UMLS:C1854063|SCTID:719835006|GARD:0005595|MESH:C535581	mondo.json	DCWHK|cardiomyopathy, dilated, with woolly hair and keratoderma|palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair|keratoderma with woolly hair type II|epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy|woolly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome|dilated cardiomyopathy with woolly hair and keratoderma|woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome|cardiomyopathy dilated with woolly hair and keratoderma|wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome|wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome|wooly hair - palmoplantar keratoderma - dilated cardiomyopathy|KWWH type II|arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Carvajal syndrome	http://purl.obolibrary.org/obo/MONDO_0011581	https://omim.org/entry/605676|http://identifiers.org/snomedct/719835006|UMLS:C1854063|DOID:0090128|http://identifiers.org/mesh/C535581|Orphanet:65282	ordo_disease|gard_rare
HGNC:24912	biolink:NamedThing	LARP7			mondo.json		http://identifiers.org/hgnc/24912		
CL:1000617	biolink:Cell	kidney inner medulla cell		KUPO:0001026	mondo.json		http://purl.obolibrary.org/obo/CL_1000617		
HGNC:12926	biolink:NamedThing	ZNF141			mondo.json		http://identifiers.org/hgnc/12926		
CL:1000616	biolink:Cell	kidney outer medulla cell		KUPO:0001025	mondo.json		http://purl.obolibrary.org/obo/CL_1000616		
CL:1000615	biolink:Cell	kidney cortex tubule cell		KUPO:0001024	mondo.json		http://purl.obolibrary.org/obo/CL_1000615		
UBERON:0034994	biolink:AnatomicalEntity	hindbrain cortical intermediate zone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034994		
CL:1000612	biolink:Cell	kidney corpuscule cell		KUPO:0001021	mondo.json		http://purl.obolibrary.org/obo/CL_1000612		
UBERON:0034995	biolink:AnatomicalEntity	jaw mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034995		
UBERON:0034996	biolink:AnatomicalEntity	outer renal medulla loop of Henle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034996		
HGNC:12930	biolink:NamedThing	ZBTB16			mondo.json		http://identifiers.org/hgnc/12930		
UBERON:0034986	biolink:AnatomicalEntity	sacral nerve plexus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034986		
UBERON:0034987	biolink:AnatomicalEntity	lumbar nerve plexus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034987		
UBERON:0007376	biolink:AnatomicalEntity	outer epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007376		
UBERON:0007375	biolink:AnatomicalEntity	roof of mouth			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007375		
UBERON:0007373	biolink:AnatomicalEntity	inferior surface of tongue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007373		
HGNC:12933	biolink:NamedThing	ZNF148			mondo.json		http://identifiers.org/hgnc/12933		
UBERON:0007371	biolink:AnatomicalEntity	superior surface of tongue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007371		
HGNC:3007	biolink:NamedThing	DPM3			mondo.json		http://identifiers.org/hgnc/3007		
HGNC:3006	biolink:NamedThing	DPM2			mondo.json		http://identifiers.org/hgnc/3006		
HGNC:3005	biolink:NamedThing	DPM1			mondo.json		http://identifiers.org/hgnc/3005		
HGNC:3003	biolink:NamedThing	DPH1			mondo.json		http://identifiers.org/hgnc/3003		
UBERON:0020358	biolink:AnatomicalEntity	accessory XI nerve nucleus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0020358		
CL:1000606	biolink:Cell	kidney nerve cell		KUPO:0001015	mondo.json		http://purl.obolibrary.org/obo/CL_1000606		
NCBITaxon:64320	biolink:OrganismalEntity	Zika virus		GC_ID:1	mondo.json	ZIKV	http://purl.obolibrary.org/obo/NCBITaxon_64320		
CL:1000601	biolink:Cell	ureteral cell		KUPO:0001116	mondo.json		http://purl.obolibrary.org/obo/CL_1000601		
CL:1000600	biolink:Cell	lower urinary tract cell		KUPO:0001115	mondo.json		http://purl.obolibrary.org/obo/CL_1000600		
UBERON:0007367	biolink:AnatomicalEntity	surface of tongue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007367		
UBERON:0034997	biolink:AnatomicalEntity	renal medulla loop of Henle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034997		
HGNC:3010	biolink:NamedThing	DPP6			mondo.json		http://identifiers.org/hgnc/3010		
CHEBI:32952	biolink:ChemicalSubstance	amine	A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by hydrocarbyl groups.		mondo.json	Substituted amine|Amine|amines|Amin	http://purl.obolibrary.org/obo/CHEBI_32952		
HGNC:3018	biolink:NamedThing	SLC26A3			mondo.json		http://identifiers.org/hgnc/3018		
CHR:9606-chr3q27.3	biolink:NamedThing	3q27.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr3q27.3		
HGNC:3013	biolink:NamedThing	DPYS			mondo.json		http://identifiers.org/hgnc/3013		
HGNC:3012	biolink:NamedThing	DPYD			mondo.json		http://identifiers.org/hgnc/3012		
UBERON:0007355	biolink:AnatomicalEntity	bony part of pharyngotympanic tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007355		
UBERON:0007354	biolink:AnatomicalEntity	cartilage of pharyngotympanic tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007354		
UBERON:0010996	biolink:AnatomicalEntity	articular cartilage of joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010996		
HGNC:3026	biolink:NamedThing	DRD5			mondo.json		http://identifiers.org/hgnc/3026		
HGNC:3025	biolink:NamedThing	DRD4			mondo.json		http://identifiers.org/hgnc/3025		
HGNC:3024	biolink:NamedThing	DRD3			mondo.json		http://identifiers.org/hgnc/3024		
HGNC:3023	biolink:NamedThing	DRD2			mondo.json		http://identifiers.org/hgnc/3023		
NCBITaxon:207598	biolink:OrganismalEntity	Homininae		GC_ID:1	mondo.json	Homo/Pan/Gorilla group	http://purl.obolibrary.org/obo/NCBITaxon_207598		
UBERON:0010986	biolink:AnatomicalEntity	serratus ventralis pre-muscle mass			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010986		
HGNC:3033	biolink:NamedThing	ATN1			mondo.json		http://identifiers.org/hgnc/3033		
CHEBI:78295	biolink:ChemicalSubstance	food component	Any substance that is distributed in foodstuffs. It includes materials derived from plants or animals, such as vitamins or minerals, as well as environmental contaminants.		mondo.json	dietary components|dietary component|food components	http://purl.obolibrary.org/obo/CHEBI_78295		
CHEBI:17310	biolink:ChemicalSubstance	pyridoxal	A pyridinecarbaldehyde that is pyridine-4-carbaldehyde bearing methyl, hydroxy and hydroxymethyl substituents at positions 2, 3 and 5 respectively. The 4-carboxyaldehyde form of vitamin B6, it is converted into pyridoxal phosphate, a coenzyme for the synthesis of amino acids, neurotransmitters, sphingolipids and aminolevulinic acid.		mondo.json	3-hydroxy-5-(hydroxymethyl)-2-methylpyridine-4-carbaldehyde|3-HYDROXY-5-(HYDROXYMETHYL)-2-METHYLISONICOTINALDEHYDE|pyridoxal|Pyridoxal|pyridoxaldehyde	http://purl.obolibrary.org/obo/CHEBI_17310		
CHEBI:78298	biolink:ChemicalSubstance	environmental contaminant	Any minor or unwanted substance introduced into the environment that can have undesired effects.		mondo.json	environmental contaminants	http://purl.obolibrary.org/obo/CHEBI_78298		
HGNC:3036	biolink:NamedThing	DSC2			mondo.json		http://identifiers.org/hgnc/3036		
MONDO:0023510	biolink:Disease	Jaffer-Beighton syndrome		UMLS:C2931533|MESH:C537561|GARD:0003040	mondo.json	arachnodactyly, joint laxity, and spondylolisthesis|Jaffer Beighton syndrome	http://purl.obolibrary.org/obo/MONDO_0023510	http://identifiers.org/mesh/C537561|UMLS:C2931533	gard_rare
MONDO:0023513	biolink:Disease	Jeune syndrome situs inversus		GARD:0000303|UMLS:C2931535|MESH:C537572	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023513	http://identifiers.org/mesh/C537572|UMLS:C2931535	n_of_one|gard_rare
MONDO:0011526	biolink:Disease	obsolete Sebastian syndrome		NCIT:C131650	mondo.json		http://purl.obolibrary.org/obo/MONDO_0011526	NCIT:C131650	
MONDO:0011525	biolink:Disease	Carney complex type 2		OMIM:605244	mondo.json	CNC2|Carney Myxoma-endocrine Complex, type 2|Carney complex, type 2|Carney complex, type II	http://purl.obolibrary.org/obo/MONDO_0011525	https://omim.org/entry/605244	
MONDO:0011528	biolink:Disease	hyper-IgM syndrome type 2	A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers.	OMIM:605258|Orphanet:101089|GARD:0010578|SCTID:403836001|NCIT:C129074|DOID:0060758	mondo.json	immunodeficiency with hyper IgM type 2|immunodeficiency with hyper-IgM, type 2|hyper-IgM syndrome caused by mutation in AICDA|aid deficiency|hyper-IgM syndrome 2|immunodeficiency with hyper-IgM type 2|hyper-IgM syndrome type 2|activation-induced cytidine deaminase deficiency|hyper IgM syndrome 2|HIGM2|AICDA hyper-IgM syndrome|Activation-induced cytidine deaminase deficiency	http://purl.obolibrary.org/obo/MONDO_0011528	NCIT:C129074|https://omim.org/entry/605258|Orphanet:101089|http://identifiers.org/snomedct/403836001|DOID:0060758	gard_rare|ordo_clinical_subtype
MONDO:0011527	biolink:Disease	Charcot-Marie-Tooth disease type 4E	Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.	GARD:0009203|DOID:0110195|SCTID:763135001|GARD:0006170|MESH:C535301|OMIM:605253|Orphanet:99951	mondo.json	congenital hypomyelinating neuropathy (CHN)|Charcot-Marie-Tooth neuropathy, type 4E|autosomal recessive congenital hypomyelinating or amyelinating neuropathy|Charcot-Marie-Tooth neuropathy type 4E|hypomyelination, Severe congenital|neuropathy, congenital hypomyelinating, autosomal dominant|congenital hypomyelination neuropathy|CMT4E|neuropathy, congenital hypomyelinating, 1|Charcot-Marie-Tooth disease, type 4E|autosomal recessive congenital hypomyelinating neuropathy|neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive|CHN1|Charcot-Marie-Tooth disease type 4E|CHN|hypomyelinating neuropathy, congenital, 1|neuropathy, congenital hypomyelinating|NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE|Charcot Marie Tooth disease type 4E|CMT 4E	http://purl.obolibrary.org/obo/MONDO_0011527	https://omim.org/entry/605253|Orphanet:99951|http://identifiers.org/mesh/C535301|DOID:0110195|http://identifiers.org/snomedct/763135001	gard_rare|ordo_disease
MONDO:0011529	biolink:Disease	spinocerebellar ataxia type 13	Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.	MESH:C537195|UMLS:C4304884|SCTID:719209002|OMIM:605259|DOID:0050963|Orphanet:98768|GARD:0009611|UMLS:C1854488	mondo.json	SCA13|autosomal dominant cerebellar ataxia with intellectual disability|cerebellar ataxia, autosomal dominant with intellectual disability|cerebellar ataxia, autosomal dominant with mental retardation|spinocerebellar ataxia 13|autosomal dominant cerebellar ataxia with mental retardation|spinocerebellar ataxia type 13	http://purl.obolibrary.org/obo/MONDO_0011529	https://omim.org/entry/605259|http://identifiers.org/mesh/C537195|Orphanet:98768|DOID:0050963|UMLS:C1854488|http://identifiers.org/snomedct/719209002	ordo_disease
MONDO:0011531	biolink:Disease	Noonan syndrome 2		MESH:C548081|DOID:0060580|OMIM:605275|UMLS:C1854469|GARD:0010698	mondo.json	Noonan syndrome type 2|autosomal recessive Noonan syndrome|Noonan syndrome autosomal recessive|Noonan syndrome, autosomal recessive|NS2|Noonan syndrome 2	http://purl.obolibrary.org/obo/MONDO_0011531	http://identifiers.org/mesh/C548081|UMLS:C1854469|DOID:0060580|https://omim.org/entry/605275	gard_rare
UBERON:0034944	biolink:AnatomicalEntity	zone of organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034944		
MONDO:0011530	biolink:Disease	mesomelic dysplasia, Savarirayan type	Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.	GARD:0010584|SCTID:715652002|Orphanet:85170|UMLS:C1854470|OMIM:605274|MESH:C565349	mondo.json	mesomelic dysplasia Savarirayan type|triangular tibia-fibular aplasia syndrome|mesomelic dysplasia, Savarirayan type|triangular tibia and fibular aplasia|mesomelic dysplasia with absent fibulas and triangular tibias	http://purl.obolibrary.org/obo/MONDO_0011530	http://identifiers.org/mesh/C565349|UMLS:C1854470|https://omim.org/entry/605274|Orphanet:85170|http://identifiers.org/snomedct/715652002	ordo_malformation_syndrome|gard_rare
UBERON:0034945	biolink:AnatomicalEntity	excreted gas			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034945		
MONDO:0011533	biolink:Disease	temtamy preaxial brachydactyly syndrome	An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene.	Orphanet:363417|OMIM:605282|GARD:0009679|UMLS:C1854466|DOID:0050814|MESH:C536958	mondo.json	preaxial brachydactyly syndrome, TEMTAMY type|preaxial brachydactyly syndrome, Temtamy type|TEMTAMY preaxial brachydactyly syndrome|temtamy preaxial brachydactyly syndrome|intellectual disability syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies|TPBS|mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies	http://purl.obolibrary.org/obo/MONDO_0011533	DOID:0050814|http://identifiers.org/mesh/C536958|UMLS:C1854466|Orphanet:363417|https://omim.org/entry/605282	gard_rare|ordo_malformation_syndrome
UBERON:0034946	biolink:AnatomicalEntity	gas excreted from digestive tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034946		
MONDO:0011532	biolink:Disease	hereditary spastic paraplegia 13	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene.	GARD:0009616|DOID:0110766|Orphanet:100994|MESH:C537485|UMLS:C1854467|OMIM:605280	mondo.json	HSPD1 hereditary spastic paraplegia|autosomal dominant spastic paraplegia 13|hereditary spastic paraplegia type 13|hereditary spastic paraplegia caused by mutation in HSPD1|SPG13|spastic paraplegia 13|autosomal dominant spastic paraplegia type 13|spastic paraplegia 13, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0011532	UMLS:C1854467|DOID:0110766|Orphanet:100994|https://omim.org/entry/605280|http://identifiers.org/mesh/C537485	ordo_disease
UBERON:0034947	biolink:AnatomicalEntity	gas in respiratory system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034947		
MONDO:0011535	biolink:Disease	split hand-foot malformation 4	Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene.	OMIM:605289|DOID:0090023|MESH:C565344	mondo.json	split hand-foot malformation type 4|split hand-foot malformation caused by mutation in TP63|SHFM4|split-hand/foot malformation 4|TP63 split hand-foot malformation|split-hand/foot malformation type 4	http://purl.obolibrary.org/obo/MONDO_0011535	https://omim.org/entry/605289|http://identifiers.org/mesh/C565344|DOID:0090023	
MONDO:0011534	biolink:Disease	Charcot-Marie-Tooth disease type 4G	Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.	Orphanet:99953|OMIM:605285|GARD:0010132|UMLS:C1854449|SCTID:715799004|DOID:0110196|MESH:C535813	mondo.json	Charcot-Marie-Tooth disease, type 4G|Charcot-Marie-Tooth disease, autosomal recessive, type 4G|Charcot-Marie-Tooth neuropathy type 4G|CMT4G|Charcot-Marie-Tooth disease type 4 caused by mutation in HK1|HMSNR|hereditary motor and sensory neuropathy Russe type|neuropathy, hereditary motor and sensory, Russe type|autosomal recessive Charcot-Marie-Tooth disease type 4G|Charcot-Marie-Tooth neuropathy, type 4G|HK1 Charcot-Marie-Tooth disease type 4|hereditary motor and sensory neuropathy, Russe type	http://purl.obolibrary.org/obo/MONDO_0011534	Orphanet:99953|DOID:0110196|UMLS:C1854449|http://identifiers.org/mesh/C535813|http://identifiers.org/snomedct/715799004|https://omim.org/entry/605285	ordo_disease
HGNC:3049	biolink:NamedThing	DSG2			mondo.json		http://identifiers.org/hgnc/3049		
HGNC:3048	biolink:NamedThing	DSG1			mondo.json		http://identifiers.org/hgnc/3048		
HGNC:3046	biolink:NamedThing	PIGP			mondo.json		http://identifiers.org/hgnc/3046		
MONDO:0011515	biolink:Disease	obsolete papillary renal cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0011515		
MONDO:0011514	biolink:Disease	tricuspid atresia	Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV).	UMLS:C0243002|DOID:0080169|MedDRA:10049767|ICD10CM:Q22.4|MESH:D018785|SCTID:63042009|OMIM:605067|HP:0011662|NCIT:C85202|Orphanet:1209|GARD:0005274	mondo.json	tricuspid atresia (disease)|tricuspid atresia|tricuspid valve atresia|congenital agenesis of the tricuspid valve|congenital atresia of tricuspid valve	http://purl.obolibrary.org/obo/MONDO_0011514	https://omim.org/entry/605067|http://identifiers.org/snomedct/63042009|DOID:0080169|Orphanet:1209|NCIT:C85202|http://identifiers.org/mesh/D018785|UMLS:C0243002	ordo_morphological_anomaly
MONDO:0011517	biolink:Disease	pseudohyperaldosteronism type 2	Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.	Orphanet:88660|MESH:C565359|UMLS:C1854631|OMIM:605115|SCTID:766937004	mondo.json	hypertension due to gain-of-function mutations in the mineralocorticoid receptor|hypertension, early-onset, autosomal dominant, with Severe exacerbation in pregnancy|hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy|early-onset hypertension with exacerbation in pregnancy|hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy	http://purl.obolibrary.org/obo/MONDO_0011517	Orphanet:88660|https://omim.org/entry/605115|http://identifiers.org/mesh/C565359|UMLS:C1854631|http://identifiers.org/snomedct/766937004	ordo_disease
MONDO:0011516	biolink:Disease	early response to neural induction gene		OMIM:605105	mondo.json	Erni|early response to neural induction gene	http://purl.obolibrary.org/obo/MONDO_0011516	https://omim.org/entry/605105	
MONDO:0011519	biolink:Disease	autosomal dominant nonsyndromic hearing loss 23	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene.	UMLS:C1854594|MESH:C565357|OMIM:605192|GARD:0001708|DOID:0110553	mondo.json	DFNA 23|autosomal dominant nonsyndromic deafness 23|SIX1 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 23|autosomal dominant deafness 23|deafness, autosomal dominant 23|autosomal dominant nonsyndromic deafness caused by mutation in SIX1|DFNA23|deafness, autosomal dominant nonsyndromic sensorineural 23|autosomal dominant nonsyndromic deafness type 23	http://purl.obolibrary.org/obo/MONDO_0011519	https://omim.org/entry/605192|http://identifiers.org/mesh/C565357|UMLS:C1854594|DOID:0110553	
MONDO:0011518	biolink:Disease	Wiedemann-Steiner syndrome	Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language.	OMIM:605130|MESH:C536704|Orphanet:319182|GARD:0005565	mondo.json	hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome|A syndrome of abnormal facies, short stature, and psychomotor retardation|hairy elbows, short stature, Facial Dysmorphism, and developmental delay|Wiedemann-Steiner syndrome|WDSTS|Wiedemann Grosse Dibbern syndrome	http://purl.obolibrary.org/obo/MONDO_0011518	Orphanet:319182|https://omim.org/entry/605130|http://identifiers.org/mesh/C536704	gard_rare|ordo_malformation_syndrome
UBERON:0034953	biolink:AnatomicalEntity	embryonic lymph sac			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034953		
HGNC:3054	biolink:NamedThing	DSPP			mondo.json		http://identifiers.org/hgnc/3054		
MONDO:0011520	biolink:Disease	systemic lupus erythematosus, susceptibility to, 2		OMIM:605218|UMLS:C1854577	mondo.json	systemic lupus erythematosus, susceptibility to, type 2|SLEB2|susceptibility to systemic lupus erythematosus 2|systemic lupus erythematosus, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0011520	UMLS:C1854577|https://omim.org/entry/605218	predisposition
HGNC:3052	biolink:NamedThing	DSP			mondo.json		http://identifiers.org/hgnc/3052		
MONDO:0011522	biolink:Disease	hereditary spastic paraplegia 14	A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28.	OMIM:605229|DOID:0110767|Orphanet:100995|GARD:0009589|MESH:C537486|UMLS:C1854568	mondo.json	spastic paraplegia 14|autosomal recessive spastic paraplegia type 14|hereditary spastic paraplegia type 14|autosomal recessive spastic paraplegia 14|SPG14|spastic paraplegia 14, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0011522	https://omim.org/entry/605229|http://identifiers.org/mesh/C537486|UMLS:C1854568|DOID:0110767|Orphanet:100995	ordo_disease
MONDO:0011521	biolink:Disease	inflammatory bowel disease 7	An inflammatory bowel disease that has material basis in variation in the chromosome region 1p36.	MESH:C565353|OMIM:605225|DOID:0110882|UMLS:C1854573	mondo.json	inflammatory bowel disease 7|IBD7|inflammatory bowel disease type 7	http://purl.obolibrary.org/obo/MONDO_0011521	https://omim.org/entry/605225|http://identifiers.org/mesh/C565353|UMLS:C1854573|DOID:0110882	
MONDO:0011524	biolink:Disease	Dianzani autoimmune lymphoproliferative disease	Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly.	Orphanet:275523|MESH:C535950|SCTID:721093000|OMIM:605233|GARD:0009797|UMLS:C2931071	mondo.json	Dianzani autoimmune lymphoproliferative syndrome|Dianzani autoimmune lymphoproliferative disease|Dianzani form of autoimmune lymphoproliferative disease|autoimmune lymphoproliferative syndrome without FAS mutations|DALD	http://purl.obolibrary.org/obo/MONDO_0011524	https://omim.org/entry/605233|UMLS:C2931071|http://identifiers.org/mesh/C535950|Orphanet:275523|http://identifiers.org/snomedct/721093000	ordo_disease
MONDO:0011523	biolink:Disease	Bardet-Biedl syndrome 6		UMLS:C1858054|DOID:0110128|OMIM:605231|MESH:C565738|OMIM:209900|GARD:0010205	mondo.json	BBS6|Bardet-Biedl syndrome 6|Bardet-Biedl syndrome type 6	http://purl.obolibrary.org/obo/MONDO_0011523	https://omim.org/entry/605231|DOID:0110128|http://identifiers.org/mesh/C565738|UMLS:C1858054	gard_rare
HGNC:3057	biolink:NamedThing	DTNA			mondo.json		http://identifiers.org/hgnc/3057		
MONDO:0011504	biolink:Disease	NDE1-related microhydranencephaly	NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.	Orphanet:443162|GARD:0010216|UMLS:C1857977|MESH:C537555|OMIM:605013	mondo.json	microhydranencephaly|MHAC|hydranencephaly and microcephaly	http://purl.obolibrary.org/obo/MONDO_0011504	Orphanet:443162|https://omim.org/entry/605013|http://identifiers.org/mesh/C537555|UMLS:C1857977	ordo_malformation_syndrome
MONDO:0011503	biolink:Disease	cortisone reductase deficiency 1	Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency.	NCIT:C131849|OMIM:604931|DOID:0090141|UMLS:C3551716	mondo.json	H6PD cortisone reductase deficiency|CORTRD1|cortisone reductase deficiency 1|hexose-6-phosphate dehydrogenase deficiency|cortisone reductase deficiency caused by mutation in H6PD|cortisone reductase deficiency type 1|apparent cortisone reductase deficiency	http://purl.obolibrary.org/obo/MONDO_0011503	UMLS:C3551716|DOID:0090141|https://omim.org/entry/604931|NCIT:C131849	
UBERON:0007391	biolink:AnatomicalEntity	pelvic appendage cartilage tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007391		
MONDO:0011506	biolink:Disease	familial infantile myoclonic epilepsy		OMIM:605021|Orphanet:352582|UMLS:C0917800	mondo.json	myoclonic epilepsy, infantile, familial|myoclonic epilepsy, familial infantile|FIME|familial infantile myoclonus epilepsy|Eim	http://purl.obolibrary.org/obo/MONDO_0011506	Orphanet:352582|https://omim.org/entry/605021|UMLS:C0917800	ordo_disease
UBERON:0007390	biolink:AnatomicalEntity	pectoral appendage cartilage tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007390		
MONDO:0011505	biolink:Disease	familial hypobetalipoproteinemia 2	Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene.	OMIM:605019|UMLS:C1857970|MESH:C565732|DOID:0111061	mondo.json	familial hypobetalipoproteinemia 2|hypobetalipoproteinemia, familial, 2|combined familial hypolipidemia|hypobetalipoproteinemia caused by mutation in ANGPTL3|hypolipidemia, familial, combined|FHBL2|familial hypobetalipoproteinemia type 2|hypobetalipoproteinemia, familial, type 2|ANGPTL3 hypobetalipoproteinemia	http://purl.obolibrary.org/obo/MONDO_0011505	https://omim.org/entry/605019|DOID:0111061|UMLS:C1857970|http://identifiers.org/mesh/C565732	
MONDO:0011508	biolink:Disease	lymphoma, non-Hodgkin, familial		SCTID:118601006|ICD9:202.80|OMIM:605027	mondo.json	lymphoma, non-Hodgkin|non-Hodgkin lymphoma|lymphoma, non-Hodgkin, somatic|lymphoma, non-Hodgkin, familial|lymphoma, follicular, somatic	http://purl.obolibrary.org/obo/MONDO_0011508	https://omim.org/entry/605027|http://identifiers.org/snomedct/118601006	
UBERON:0034971	biolink:AnatomicalEntity	aortic body			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034971		
MONDO:0011507	biolink:Disease	diabetes mellitus, congenital autoimmune		UMLS:C1857958|MESH:C565730|OMIM:605026	mondo.json	diabetes mellitus, congenital autoimmune	http://purl.obolibrary.org/obo/MONDO_0011507	https://omim.org/entry/605026|UMLS:C1857958|http://identifiers.org/mesh/C565730	
UBERON:0034972	biolink:AnatomicalEntity	jugular body			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034972		
MONDO:0011509	biolink:Disease	low density lipoprotein cholesterol, mild elevation of		OMIM:605028	mondo.json	low density lipoprotein cholesterol, mild elevation of|Ldlc, mild elevation of	http://purl.obolibrary.org/obo/MONDO_0011509	https://omim.org/entry/605028	
MONDO:0011511	biolink:Disease	clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia		UMLS:C1857942|OMIM:605040|MESH:C565729	mondo.json	clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia|Chzam	http://purl.obolibrary.org/obo/MONDO_0011511	https://omim.org/entry/605040|UMLS:C1857942|http://identifiers.org/mesh/C565729	
MONDO:0011510	biolink:Disease	Bohring-Opitz syndrome	Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.	UMLS:C0796232|MESH:C537419|SCTID:720565000|OMIM:605039|GARD:0010140|NCIT:C131533|Orphanet:97297	mondo.json	C-like syndrome|BOHRING-Opitz syndrome|Bohring-Opitz syndrome|Opitz trigonocephaly-like syndrome|Bos syndrome|Oberklaid-Danks syndrome|Bohring syndrome|BOPS	http://purl.obolibrary.org/obo/MONDO_0011510	https://omim.org/entry/605039|http://identifiers.org/mesh/C537419|Orphanet:97297|NCIT:C131533|http://identifiers.org/snomedct/720565000|UMLS:C0796232	ordo_malformation_syndrome|gard_rare
UBERON:0034969	biolink:AnatomicalEntity	epithelial layer of duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034969		
MONDO:0011513	biolink:Disease	Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology		UMLS:C1857933|MESH:C565728|OMIM:605055	mondo.json	Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology	http://purl.obolibrary.org/obo/MONDO_0011513	https://omim.org/entry/605055|UMLS:C1857933|http://identifiers.org/mesh/C565728	
MONDO:0011512	biolink:Disease	Brooke-Spiegler syndrome	Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma.	OMIM:605041|GARD:0010179|SCTID:703531009|UMLS:C1857941|DOID:0050693|Orphanet:79493|ICD9:239.2	mondo.json	BRSS|Spiegler-Brooke syndrome|Bss|Brooke-Spiegler syndrome|CYLD cutaneous syndrome	http://purl.obolibrary.org/obo/MONDO_0011512	https://omim.org/entry/605041|UMLS:C1857941|DOID:0050693|Orphanet:79493|http://identifiers.org/snomedct/703531009	ordo_disease
UBERON:0034980	biolink:AnatomicalEntity	jugular bulb			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034980		
UBERON:0007389	biolink:AnatomicalEntity	paired limb/fin cartilage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007389		
UBERON:0034978	biolink:AnatomicalEntity	paraganglion (generic)			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034978		
UBERON:0007386	biolink:AnatomicalEntity	pelvic appendage lymph vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007386		
MONDO:0011500	biolink:Disease	Becker nevus syndrome	Becker nevus syndrome is characterized by the presence of a Becker nevus in association withunderdevelopment (hypoplasia)of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia;skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual.	MESH:C565735|GARD:0003856|Orphanet:64755|UMLS:C1858042|OMIM:604919	mondo.json	pigmentary hairy epidermal nevus|Becker nevus syndrome|hairy epidermal nevus syndrome	http://purl.obolibrary.org/obo/MONDO_0011500	http://identifiers.org/mesh/C565735|https://omim.org/entry/604919|UMLS:C1858042|Orphanet:64755	ordo_disease|gard_rare
UBERON:0007385	biolink:AnatomicalEntity	pectoral appendage lymph vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007385		
UBERON:0034979	biolink:AnatomicalEntity	nonchromaffin paraganglion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034979		
UBERON:0007384	biolink:AnatomicalEntity	appendage lymph vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007384		
HGNC:3072	biolink:NamedThing	DUSP6			mondo.json		http://identifiers.org/hgnc/3072		
MONDO:0011502	biolink:Disease	Wolfram syndrome 2	Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene.	OMIM:604928|MESH:C565733|UMLS:C1858028|DOID:0110630	mondo.json	Wolfram syndrome 2|CISD2 Wolfram syndrome|WFS2|Wolfram syndrome type 2|Wolfram syndrome caused by mutation in CISD2|WOLFRAM syndrome 2	http://purl.obolibrary.org/obo/MONDO_0011502	UMLS:C1858028|http://identifiers.org/mesh/C565733|https://omim.org/entry/604928|DOID:0110630	
UBERON:0007383	biolink:AnatomicalEntity	enveloping layer of ectoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007383		
MONDO:0011501	biolink:Disease	wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia	Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.	GARD:0010290|MESH:C565734|UMLS:C1858032|OMIM:604922|Orphanet:166277	mondo.json	cortical defects, WORMIAN bones, and dentinogenesis imperfecta|cortical defects wormian bones and dentinogenesis imperfecta|Suarez-Stickler syndrome	http://purl.obolibrary.org/obo/MONDO_0011501	UMLS:C1858032|Orphanet:166277|http://identifiers.org/mesh/C565734|https://omim.org/entry/604922	gard_rare|ordo_malformation_syndrome
GO:0005978	biolink:NamedThing	glycogen biosynthetic process	The chemical reactions and pathways resulting in the formation of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues.		mondo.json	glycogen synthesis|glycogen formation|glycogen biosynthesis|glycogen anabolism	http://purl.obolibrary.org/obo/GO_0005978		
GO:0005979	biolink:NamedThing	regulation of glycogen biosynthetic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glycogen.		mondo.json	regulation of glycogen synthesis|regulation of glycogen formation|regulation of glycogen anabolism|regulation of glycogen biosynthesis	http://purl.obolibrary.org/obo/GO_0005979		
CHEBI:17272	biolink:ChemicalSubstance	propionate	The conjugate base of propionic acid; a key precursor in lipid biosynthesis.		mondo.json	metacetonate|propanoic acid, ion(1-)|propanoate|pseudoacetate|EtCO2 anion|methylacetate|propanate|ethylformate|propionate|carboxylatoethane|CH3-CH2-COO(-)|ethanecarboxylate|propanoate	http://purl.obolibrary.org/obo/CHEBI_17272		
GO:0005976	biolink:NamedThing	polysaccharide metabolic process	The chemical reactions and pathways involving a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically.		mondo.json	glycan metabolic process|glycan metabolism|polysaccharide metabolism|multicellular organismal polysaccharide metabolic process	http://purl.obolibrary.org/obo/GO_0005976		
GO:0005977	biolink:NamedThing	glycogen metabolic process	The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha-(1->4) glycosidic linkage, joined together by alpha-(1->6) glycosidic linkages.		mondo.json	glycogen metabolism	http://purl.obolibrary.org/obo/GO_0005977		
GO:0005975	biolink:NamedThing	carbohydrate metabolic process	The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y.		mondo.json	carbohydrate metabolism	http://purl.obolibrary.org/obo/GO_0005975		
GO:0030936	biolink:NamedThing	transmembrane collagen trimer	Any collagen trimer that passes through a lipid bilayer membrane.		mondo.json	MACIT	http://purl.obolibrary.org/obo/GO_0030936		
HP:0000077	biolink:PhenotypicFeature	Abnormality of the kidney	An abnormality of the kidney.	SNOMEDCT_US:90708001|MSH:D007674|SNOMEDCT_US:44513007|UMLS:C0022658|UMLS:C0266292	mondo.json	Abnormal kidney|Renal anomaly|Renal anomalies|Abnormality of the kidney	http://purl.obolibrary.org/obo/HP_0000077		
HP:0000079	biolink:PhenotypicFeature	Abnormality of the urinary system	An abnormality of the urinary system.	UMLS:C4021821	mondo.json	Urinary tract abnormality|Urinary tract abnormalities|Urinary tract anomalies	http://purl.obolibrary.org/obo/HP_0000079		
HP:0000078	biolink:PhenotypicFeature	Abnormality of the genital system	An abnormality of the genital system.	UMLS:C0281966|UMLS:C0744356	mondo.json	Genital defects|Genital anomalies|Abnormality of the reproductive system|Genital abnormality|Genital abnormalities	http://purl.obolibrary.org/obo/HP_0000078		
NCBITaxon:5475	biolink:OrganismalEntity	Candida		GC_ID:12	mondo.json	Torulopsis	http://purl.obolibrary.org/obo/NCBITaxon_5475		
UBERON:0007418	biolink:AnatomicalEntity	neural decussation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007418		
HP:0000071	biolink:PhenotypicFeature	Ureteral stenosis	The presence of a stenotic, i.e., constricted ureter.	SNOMEDCT_US:95574003|UMLS:C0521618	mondo.json	Narrowing of the ureter	http://purl.obolibrary.org/obo/HP_0000071		
UBERON:0007414	biolink:AnatomicalEntity	nucleus of midbrain tegmentum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007414		
HP:0000074	biolink:PhenotypicFeature	Ureteropelvic junction obstruction	Blockage of urine flow from the renal pelvis to the proximal ureter.	UMLS:C0521619|SNOMEDCT_US:95575002|MSH:C537373	mondo.json	Pelviureteric junction obstruction|Ureteropelvic junction stenosis	http://purl.obolibrary.org/obo/HP_0000074		
NCBITaxon:5478	biolink:OrganismalEntity	[Candida] glabrata		PMID:14654427|GC_ID:1	mondo.json	Candida glabrata|Cryptococcus glabratus|Torulopsis glabrata	http://purl.obolibrary.org/obo/NCBITaxon_5478		
GO:0005984	biolink:NamedThing	disaccharide metabolic process	The chemical reactions and pathways involving any disaccharide, sugars composed of two monosaccharide units.		mondo.json	disaccharide metabolism	http://purl.obolibrary.org/obo/GO_0005984		
GO:0005981	biolink:NamedThing	regulation of glycogen catabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of glycogen.		mondo.json	regulation of glycogen catabolism|regulation of glycogen degradation|regulation of glycogenolysis|regulation of glycogen breakdown	http://purl.obolibrary.org/obo/GO_0005981		
GO:0005980	biolink:NamedThing	glycogen catabolic process	The chemical reactions and pathways resulting in the breakdown of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues.		mondo.json	glycogen breakdown|glycogenolysis|glycogen catabolism|glycogen degradation	http://purl.obolibrary.org/obo/GO_0005980		
HP:0000080	biolink:PhenotypicFeature	Abnormality of reproductive system physiology	An abnormal functionality of the genital system.	UMLS:C4021820|UMLS:C4020896	mondo.json	Genital functional abnormality|Abnormality of genital physiology|Abnormality of reproductive system physiology	http://purl.obolibrary.org/obo/HP_0000080		
HP:0000083	biolink:PhenotypicFeature	Renal insufficiency	A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.	UMLS:C1565489|MSH:D051437|UMLS:C0035078|SNOMEDCT_US:42399005|UMLS:C1839604|SNOMEDCT_US:236423003	mondo.json	Renal failure|Renal failure in adulthood	http://purl.obolibrary.org/obo/HP_0000083		
HP:0000050	biolink:PhenotypicFeature	Hypoplastic male external genitalia	Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).	UMLS:C1852534	mondo.json	Hypoplastic male genitalia|Small male external genitalia|Underdeveloped male genitalia	http://purl.obolibrary.org/obo/HP_0000050		
GO:0030901	biolink:NamedThing	midbrain development	The process whose specific outcome is the progression of the midbrain over time, from its formation to the mature structure. The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles).		mondo.json	mesencephalon development	http://purl.obolibrary.org/obo/GO_0030901		
GO:0005967	biolink:NamedThing	mitochondrial pyruvate dehydrogenase complex	Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA in eukaryotes; includes subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3). The This Eukaryotic form usually contains more subunits than its bacterial counterpart; for example, one known complex contains 30 E1 dimers, 60 E2 monomers, and 6 E3 dimers as well as a few copies of pyruvate dehydrogenase kinase and pyruvate dehydrogenase phosphatase.		mondo.json	pyruvate dehydrogenase complex (lipoamide)	http://purl.obolibrary.org/obo/GO_0005967		
HP:0000069	biolink:PhenotypicFeature	Abnormality of the ureter	An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.	UMLS:C1840382	mondo.json	Ureter issue|Abnormality of the ureters|Ureteral anomalies	http://purl.obolibrary.org/obo/HP_0000069		
CHEBI:29214	biolink:ChemicalSubstance	sulfonic acid			mondo.json	HSHO3|sulfonic acid|hydridohydroxidodioxidosulfur|Sulfonsaeure|acide sulfonique|sulphonic acid|[SHO2(OH)]	http://purl.obolibrary.org/obo/CHEBI_29214		
CHEBI:32863	biolink:ChemicalSubstance	secondary amine	A compound formally derived from ammonia by replacing two hydrogen atoms by hydrocarbyl groups.		mondo.json	R2NH|sekundaeres Amin|secondary amines|Secondary amine	http://purl.obolibrary.org/obo/CHEBI_32863		
GO:0005938	biolink:NamedThing	cell cortex	The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins.		mondo.json	cell periphery|peripheral cytoplasm	http://purl.obolibrary.org/obo/GO_0005938		
CHEBI:30217	biolink:ChemicalSubstance	helium atom			mondo.json	helium|helio|Helium|helium|2He|He	http://purl.obolibrary.org/obo/CHEBI_30217		
CHEBI:32876	biolink:ChemicalSubstance	tertiary amine	A compound formally derived from ammonia by replacing three hydrogen atoms by hydrocarbyl groups.		mondo.json	tertiary amines|R3N|Tertiary amine|tertiaeres Amin	http://purl.obolibrary.org/obo/CHEBI_32876		
HP:0012091	biolink:PhenotypicFeature	Abnormality of pancreas physiology	An anomaly of the function of the pancreas.	UMLS:C4023048	mondo.json		http://purl.obolibrary.org/obo/HP_0012091		
CHEBI:32877	biolink:ChemicalSubstance	primary amine	A compound formally derived from ammonia by replacing one hydrogen atom by a hydrocarbyl group.		mondo.json	Primary monoamine|primary amines|RCH2NH2|R-NH2|primaeres Amin|Primary amine	http://purl.obolibrary.org/obo/CHEBI_32877		
HP:0012093	biolink:PhenotypicFeature	Abnormality of endocrine pancreas physiology	A function abnormality of the endocrine pancreas.	UMLS:C4023047	mondo.json		http://purl.obolibrary.org/obo/HP_0012093		
GO:0005911	biolink:NamedThing	cell-cell junction	A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects.		mondo.json	intercellular junction|cell-cell contact region|cell-cell contact zone	http://purl.obolibrary.org/obo/GO_0005911		
GO:0042981	biolink:NamedThing	regulation of apoptotic process	Any process that modulates the occurrence or rate of cell death by apoptotic process.		mondo.json	apoptosis regulator activity|regulation of apoptosis	http://purl.obolibrary.org/obo/GO_0042981		
HP:0000099	biolink:PhenotypicFeature	Glomerulonephritis	Inflammation of the renal glomeruli.	UMLS:C0017658|SNOMEDCT_US:36171008|MSH:D005921	mondo.json	Glomerular nephritis	http://purl.obolibrary.org/obo/HP_0000099		
HP:0000098	biolink:PhenotypicFeature	Tall stature	A height above that which is expected according to age and gender norms.	SNOMEDCT_US:248328003|UMLS:C0241240	mondo.json	Accelerated linear growth|Tall stature|Increased linear growth|Increased body height	http://purl.obolibrary.org/obo/HP_0000098		
HP:0000090	biolink:PhenotypicFeature	Nephronophthisis	Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.	UMLS:C0687120|SNOMEDCT_US:204958008	mondo.json	juvenile nephronophthisis	http://purl.obolibrary.org/obo/HP_0000090		
NCBITaxon:5498	biolink:OrganismalEntity	Cladosporium		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5498		
HP:0000093	biolink:PhenotypicFeature	Proteinuria	Increased levels of protein in the urine.	SNOMEDCT_US:29738008|MSH:D011507|UMLS:C0033687	mondo.json	High urine protein levels|Protein in urine	http://purl.obolibrary.org/obo/HP_0000093		
CHEBI:17245	biolink:ChemicalSubstance	carbon monoxide	A one-carbon compound in which the carbon is joined only to a single oxygen. It is a colourless, odourless, tasteless, toxic gas.		mondo.json	Carbon monoxide|CARBON MONOXIDE|carbon monoxide|CO|[CO]|carbon(II) oxide|carbon monooxide|C#O	http://purl.obolibrary.org/obo/CHEBI_17245		
HP:0000095	biolink:PhenotypicFeature	Abnormal renal glomerulus morphology	A structural anomaly of the glomerulus.	UMLS:C4025889	mondo.json	Morphologic abnormality of the renal glomerulus|Abnormality of renal glomerulus morphology	http://purl.obolibrary.org/obo/HP_0000095		
HP:0000096	biolink:PhenotypicFeature	Glomerular sclerosis	Accumulation of scar tissue within the glomerulus.	UMLS:C0178664|SNOMEDCT_US:197661001|SNOMEDCT_US:82646005	mondo.json	Renal glomerular fibrosis|Glomerulosclerosis	http://purl.obolibrary.org/obo/HP_0000096		
CHEBI:29202	biolink:ChemicalSubstance	isocyanic acid	A colourless, volatile, poisonous inorganic compound with the formula HNCO; the simplest stable chemical compound that contains carbon, hydrogen, nitrogen, and oxygen, the four most commonly-found elements in organic chemistry and biology.		mondo.json	HNCO|isozyansaeure|isocyanic acid|HN=C=O|[C(NH)O]|hydrogen isocyanate|isocyanate|isocyansaeure|methenamide|oxidoazanediidocarbon|carbimide|ICA	http://purl.obolibrary.org/obo/CHEBI_29202		
HP:0012072	biolink:PhenotypicFeature	Aciduria	Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration.	UMLS:C0278026|SNOMEDCT_US:21806007	mondo.json	Acidic urine	http://purl.obolibrary.org/obo/HP_0012072		
GO:0042995	biolink:NamedThing	cell projection	A prolongation or process extending from a cell, e.g. a flagellum or axon.		mondo.json	cellular process|cell process|cellular projection	http://purl.obolibrary.org/obo/GO_0042995		
GO:0005929	biolink:NamedThing	cilium	A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body.		mondo.json	primary cilium|eukaryotic flagellum|flagellum|microtubule-based flagellum	http://purl.obolibrary.org/obo/GO_0005929		
UBERON:0007425	biolink:AnatomicalEntity	decussation of diencephalon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007425		
MONDO:0060578	biolink:Disease	neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures		Orphanet:572798|UMLS:C4540192|OMIM:617710	mondo.json	neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures|NEMMLAS	http://purl.obolibrary.org/obo/MONDO_0060578	UMLS:C4540192|https://omim.org/entry/617710|Orphanet:572798	
MONDO:0060577	biolink:Disease	neurodevelopmental disorder with microcephaly, ataxia, and seizures		UMLS:C4540188|OMIM:617709	mondo.json	neurodevelopmental disorder with microcephaly, ataxia, and seizures|NEDMAS	http://purl.obolibrary.org/obo/MONDO_0060577	UMLS:C4540188|https://omim.org/entry/617709	
HP:0002652	biolink:PhenotypicFeature	Skeletal dysplasia	A general term describing features characterized by abnormal development of bones and connective tissues.	SNOMEDCT_US:240190009|UMLS:C4280567|MSH:D010009|UMLS:C0029422|SNOMEDCT_US:105985007	mondo.json	Abnormal skeletal development	http://purl.obolibrary.org/obo/HP_0002652		
MONDO:0060583	biolink:Disease	platelet abnormalities with eosinophilia and immune-mediated inflammatory disease		OMIM:617718|UMLS:C4540232	mondo.json	PLTEID|immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia|platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	http://purl.obolibrary.org/obo/MONDO_0060583	https://omim.org/entry/617718|UMLS:C4540232	
HP:0002653	biolink:PhenotypicFeature	Bone pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.	SNOMEDCT_US:12584003|UMLS:C0151825	mondo.json	Bone pain	http://purl.obolibrary.org/obo/HP_0002653		
MONDO:0060582	biolink:Disease	auditory neuropathy-optic atrophy syndrome		OMIM:617717|UMLS:C4521678|Orphanet:542585	mondo.json	auditory neuropathy and optic atrophy|ANOA	http://purl.obolibrary.org/obo/MONDO_0060582	UMLS:C4521678|https://omim.org/entry/617717|Orphanet:542585	ordo_disease
HP:0002651	biolink:PhenotypicFeature	Spondyloepimetaphyseal dysplasia		UMLS:C0432211|SNOMEDCT_US:254062008	mondo.json		http://purl.obolibrary.org/obo/HP_0002651		
NCBITaxon:629	biolink:OrganismalEntity	Yersinia <enterobacteria>		GC_ID:11	mondo.json	Yersinia	http://purl.obolibrary.org/obo/NCBITaxon_629		
NCBITaxon:620	biolink:OrganismalEntity	Shigella		GC_ID:11|PMID:26834722	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_620		
HP:0000008	biolink:PhenotypicFeature	Abnormal morphology of female internal genitalia	An abnormality of the female internal genitalia.	UMLS:C4025900	mondo.json	Abnormality of female internal genitalia	http://purl.obolibrary.org/obo/HP_0000008		
HP:0000007	biolink:PhenotypicFeature	Autosomal recessive inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).	UMLS:C4020899|SNOMEDCT_US:258211005|UMLS:C0441748	mondo.json	Autosomal recessive predisposition|Autosomal recessive|Autosomal recessive form	http://purl.obolibrary.org/obo/HP_0000007		
MONDO:0060568	biolink:Disease	Pilarowski-Bjornsson syndrome		Orphanet:529965|UMLS:C4540131|OMIM:617682	mondo.json	Pilarowski-Bjornsson syndrome|developmental delay and speech apraxia with or without seizures|PILBOS	http://purl.obolibrary.org/obo/MONDO_0060568	UMLS:C4540131|Orphanet:529965|https://omim.org/entry/617682	ordo_malformation_syndrome
HP:0000009	biolink:PhenotypicFeature	Functional abnormality of the bladder	Dysfunction of the urinary bladder.	UMLS:C3806583	mondo.json	Poor bladder function	http://purl.obolibrary.org/obo/HP_0000009		
MONDO:0060564	biolink:Disease	HELIX syndrome		Orphanet:528105|OMIM:617671|UMLS:C4522164	mondo.json	hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia|hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome|HELIX|HELIX syndrome	http://purl.obolibrary.org/obo/MONDO_0060564	UMLS:C4522164|Orphanet:528105|https://omim.org/entry/617671	ordo_disease
NCBITaxon:621	biolink:OrganismalEntity	Shigella boydii		PMID:16561743|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_621		
HGNC:34399	biolink:NamedThing	UQCC3			mondo.json		http://identifiers.org/hgnc/34399		
HP:0002664	biolink:PhenotypicFeature	Neoplasm	An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour).	MSH:D009369|SNOMEDCT_US:363346000|UMLS:C0027651|NCIT:C3262|SNOMEDCT_US:108369006|UMLS:C0006826	mondo.json	Abnormal tissue mass|Oncology|Oncological abnormality|Cancer|Tumour|Tumor|Neoplasia	http://purl.obolibrary.org/obo/HP_0002664		
HP:0000002	biolink:PhenotypicFeature	Abnormality of body height	Deviation from the norm of height with respect to that which is expected according to age and gender norms.	UMLS:C4025901	mondo.json	Abnormality of body height	http://purl.obolibrary.org/obo/HP_0000002		
HP:0000001	biolink:PhenotypicFeature	All		UMLS:C0444868	mondo.json		http://purl.obolibrary.org/obo/HP_0000001		
HP:0000006	biolink:PhenotypicFeature	Autosomal dominant inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.	UMLS:C0443147|SNOMEDCT_US:263681008	mondo.json	Autosomal dominant form|Autosomal dominant|Autosomal dominant type	http://purl.obolibrary.org/obo/HP_0000006		
HP:0000005	biolink:PhenotypicFeature	Mode of inheritance	The pattern in which a particular genetic trait or disorder is passed from one generation to the next.	UMLS:C1708511	mondo.json	Inheritance	http://purl.obolibrary.org/obo/HP_0000005		
NCBITaxon:630	biolink:OrganismalEntity	Yersinia enterocolitica		GC_ID:11	mondo.json	Bacterium enterocoliticum	http://purl.obolibrary.org/obo/NCBITaxon_630		
HP:0002637	biolink:PhenotypicFeature	Cerebral ischemia		MSH:D002545|UMLS:C0917798|SNOMEDCT_US:287731003|UMLS:C0007786|SNOMEDCT_US:389100007	mondo.json	Brain ischemia|Disruption of blood oxygen supply to brain|Cerebrovascular ischemia	http://purl.obolibrary.org/obo/HP_0002637		
NCBITaxon:633	biolink:OrganismalEntity	Yersinia pseudotuberculosis		GC_ID:11|PMID:2223608|PMID:23919959	mondo.json	Shigella pseudotuberculosis|Pasteurella lymphangitidis|Bacterium pseudotuberculosis|Bacillus pseudotuberkulosis|Pasteurella pseudotuberculosis	http://purl.obolibrary.org/obo/NCBITaxon_633		
MONDO:0060596	biolink:Disease	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies		Orphanet:528084|UMLS:C4540327|OMIM:617755	mondo.json	NEDDFL|neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	http://purl.obolibrary.org/obo/MONDO_0060596	Orphanet:528084|https://omim.org/entry/617755|UMLS:C4540327	ordo_disease
NCBITaxon:632	biolink:OrganismalEntity	Yersinia pestis		GC_ID:11|PMID:15084509	mondo.json	Pestisella pestis|Pasteurella pestis|Yersinia pseudotuberculosis subsp. pestis|Bacillus pestis|Bacterium pestis	http://purl.obolibrary.org/obo/NCBITaxon_632		
HP:0002630	biolink:PhenotypicFeature	Fat malabsorption	Abnormality of the absorption of fat from the gastrointestinal tract.	UMLS:C0554103|SNOMEDCT_US:197494007	mondo.json		http://purl.obolibrary.org/obo/HP_0002630		
HP:0002633	biolink:PhenotypicFeature	Vasculitis	Inflammation of blood vessel.	UMLS:C0042384|SNOMEDCT_US:31996006|MSH:D014657	mondo.json	Angiitis|Inflammation of blood vessel	http://purl.obolibrary.org/obo/HP_0002633		
GO:0030990	biolink:NamedThing	intraciliary transport particle	A nonmembrane-bound oligomeric protein complex that participates in bidirectional transport of molecules (cargo) along axonemal microtubules.		mondo.json	IFT complex|intraflagellar transport particle|intraflagellar transport complex	http://purl.obolibrary.org/obo/GO_0030990		
HGNC:34383	biolink:NamedThing	PCARE			mondo.json		http://identifiers.org/hgnc/34383		
NCBITaxon:423054	biolink:OrganismalEntity	Eimeriorina		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_423054		
NCBITaxon:642	biolink:OrganismalEntity	Aeromonas		GC_ID:11|PMID:12807216|PMID:7520733|PMID:1380289|PMID:17012583|PMID:17158971|PMID:19567585|PMID:16560691|PMID:12067377|PMID:8347521|PMID:8934910|PMID:1380286|PMID:11155981|PMID:15388703	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_642		
NCBITaxon:641	biolink:OrganismalEntity	Vibrionaceae		PMID:8427811|PMID:15143042|PMID:4954820|GC_ID:11	mondo.json	gamma-3 proteobacteria	http://purl.obolibrary.org/obo/NCBITaxon_641		
MONDO:0060589	biolink:Disease	facial palsy, congenital, with ptosis and velopharyngeal dysfunction		UMLS:C4540277|OMIM:617732	mondo.json	facial palsy, congenitla, with ptosis and velopharyngeal dysfunction|facial palsy, congenital, with ptosis and velopharyngeal dysfunction|FPVEPD	http://purl.obolibrary.org/obo/MONDO_0060589	UMLS:C4540277|https://omim.org/entry/617732	
HP:0002648	biolink:PhenotypicFeature	Abnormality of calvarial morphology	The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.	UMLS:C4280260|UMLS:C4025692	mondo.json	Abnormal cranium morphology|Abnormality of the shape of skull bones|Abnormality of cranial bone morphology|Abnormality of the shape of calvarium|Abnormality of skull bone morphology|Abnormally shaped skull|Abnormality of the shape of cranium	http://purl.obolibrary.org/obo/HP_0002648		
NCBITaxon:644	biolink:OrganismalEntity	Aeromonas hydrophila		GC_ID:11|PMID:932684|PMID:16560691|PMID:23485124|PMID:19965992	mondo.json	Proteus ichthyosmius|Aeromonas liquefaciens|Bacterium hydrophilum|Pseudomonas hydrophila|Proteus hydrophilus|Bacillus hydrophilus fuscus|Aeromonas dourgesi|Bacillus hydrophilus	http://purl.obolibrary.org/obo/NCBITaxon_644		
MONDO:0060585	biolink:Disease	neuronopathy, distal hereditary motor, type 9		DOID:0111212|UMLS:C4540265|OMIM:617721	mondo.json	HMN9|neuropathy, distal hereditary motor, type 9|neuronopathy, distal hereditary motor, type IX	http://purl.obolibrary.org/obo/MONDO_0060585	DOID:0111212|https://omim.org/entry/617721|UMLS:C4540265	
MONDO:0060593	biolink:Disease	obsolete actn3 deficiency		OMIM:617749	mondo.json	ACTN3 deficiency|sprinting performance|alpha-actinin-3 deficiency	http://purl.obolibrary.org/obo/MONDO_0060593	https://omim.org/entry/617749	
MONDO:0060592	biolink:Disease	Sweeney-Cox syndrome		UMLS:C4540299|OMIM:617746|DOID:0080538	mondo.json	Sweeney-Cox syndrome|SWCOS	http://purl.obolibrary.org/obo/MONDO_0060592	DOID:0080538|https://omim.org/entry/617746|UMLS:C4540299	
MONDO:0060591	biolink:Disease	immunodeficiency, developmental delay, and hypohomocysteinemia		UMLS:C4540293|OMIM:617744	mondo.json	immunodeficiency, developmental delay, and hypohomocysteinemia|IMDDHH	http://purl.obolibrary.org/obo/MONDO_0060591	https://omim.org/entry/617744|UMLS:C4540293	
HP:0002644	biolink:PhenotypicFeature	Abnormality of pelvic girdle bone morphology	An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.	UMLS:C4020847	mondo.json	Abnormal shape of pelvic girdle bone|Abnormality of the pelvic girdle	http://purl.obolibrary.org/obo/HP_0002644		
OBO:ECTO_5000000	biolink:NamedThing	exposure to geographic feature	A exposure event involving the interaction of an exposure receptor to geographic feature.		mondo.json	geographic feature exposure	http://purl.obolibrary.org/obo/ECTO_5000000		
GO:0003354	biolink:NamedThing	negative regulation of cilium movement	Any process that decreases the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium.		mondo.json	negative regulation of flagellum movement|negative regulation of microtubule-based flagellum movement	http://purl.obolibrary.org/obo/GO_0003354		
GO:0003353	biolink:NamedThing	positive regulation of cilium movement	Any process that increases the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium.		mondo.json	positive regulation of flagellar movement|positive regulation of flagellum movement|positive regulation of microtubule-based flagellum movement	http://purl.obolibrary.org/obo/GO_0003353		
GO:0003352	biolink:NamedThing	regulation of cilium movement	Any process that modulates the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium.		mondo.json	regulation of flagellum movement|regulation of microtubule-based flagellum movement|regulation of flagellar movement	http://purl.obolibrary.org/obo/GO_0003352		
MONDO:0060533	biolink:Disease	microcephaly, short stature, and limb abnormalities		Orphanet:572773|OMIM:617604|UMLS:C4539873	mondo.json	MISSLA|microcephaly, short stature, and limb abnormalities	http://purl.obolibrary.org/obo/MONDO_0060533	https://omim.org/entry/617604|Orphanet:572773|UMLS:C4539873	
MONDO:0060532	biolink:Disease	congenital heart defects and skeletal malformations syndrome		OMIM:617602|UMLS:C4539857	mondo.json	CHDSKM|congenital heart defects and skeletal malformations syndrome	http://purl.obolibrary.org/obo/MONDO_0060532	https://omim.org/entry/617602|UMLS:C4539857	
MONDO:0035584	biolink:Disease	punctate inner choroidopathy	A rare ophthalmic disorder characterized by typically bilateral, asymmetric, yellowish, punctate chorioretinal lesions of the posterior pole forming a linear branching pattern and progressing to atrophic scars. Subretinal neovascular membranes occur in many cases. Vitritis is always absent. Patients may present with blurred vision, scotoma, floaters, photopsia, and metamorphopsia. Choroidal neovascular membrane formation and subretinal fibrosis are the major causes of visual loss. The condition predominantly occurs in young myopic females.	ICD10CM:H31.0|Orphanet:580951	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035584	Orphanet:580951	ordo_disorder
HP:0000032	biolink:PhenotypicFeature	Abnormality of male external genitalia	An abnormality of male external genitalia.	UMLS:C4025897	mondo.json		http://purl.obolibrary.org/obo/HP_0000032		
HP:0000035	biolink:PhenotypicFeature	Abnormal testis morphology	An anomaly of the testicle (the male gonad).	SNOMEDCT_US:55631001|UMLS:C0266423	mondo.json	Abnormality of the testis|Anomaly of the testes	http://purl.obolibrary.org/obo/HP_0000035		
HGNC:10397	biolink:NamedThing	RPS17			mondo.json		http://identifiers.org/hgnc/10397		
MONDO:0035581	biolink:Disease	obsolete lethal brain and heart developmental defects	OBSOLETE. A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by early intrauterine growth retardation, generalized edema, craniofacial dysmorphism (such as microcephaly, brachycephaly, frontal bossing, hypertelorism, short palpebral fissures, or absent nasal bone), cerebellar hypoplasia, sex reversal in male fetuses, congenital heart defects (including septal and valve defects and cardiomegaly), and late fetal loss. [Orphanet:580933]	Orphanet:580933	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035581	Orphanet:580933	
HP:0000037	biolink:PhenotypicFeature	Male pseudohermaphroditism	Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.	MSH:D058490|UMLS:C0238395|SNOMEDCT_US:111332007	mondo.json		http://purl.obolibrary.org/obo/HP_0000037		
HP:0000036	biolink:PhenotypicFeature	Abnormal penis morphology	Abnormality of the male external sex organ.	UMLS:C4025896	mondo.json	Abnormality of the penis	http://purl.obolibrary.org/obo/HP_0000036		
HP:0002693	biolink:PhenotypicFeature	Abnormality of the skull base	An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.	UMLS:C4025688	mondo.json	Abnormality of cranial base|Abnormality of the skull base	http://purl.obolibrary.org/obo/HP_0002693		
NCBITaxon:2946627	biolink:OrganismalEntity	Caphthovirinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2946627		
MONDO:0035586	biolink:Disease	Cramp-fasciculation syndrome		ICD10CM:G90.8|Orphanet:581271	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035586	Orphanet:581271	ordo_disorder
HP:0000031	biolink:PhenotypicFeature	Epididymitis	The presence of inflammation of the epididymis.	MSH:D004823|SNOMEDCT_US:31070006|UMLS:C0014534	mondo.json		http://purl.obolibrary.org/obo/HP_0000031		
NCBITaxon:2946633	biolink:OrganismalEntity	Heptrevirinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2946633		
GO:0030964	biolink:NamedThing	NADH dehydrogenase complex	An integral membrane complex that possesses NADH oxidoreductase activity. The complex is one of the components of the electron transport chain. It catalyzes the transfer of a pair of electrons from NADH to a quinone.		mondo.json	NADH dehydrogenase complex (plastoquinone)|plastid NADH dehydrogenase complex (plastoquinone)|Complex I|NADH:plastoquinone reductase complex|NADH dehydrogenase complex (quinone)|NADH dehydrogenase complex (ubiquinone)	http://purl.obolibrary.org/obo/GO_0030964		
NCBITaxon:2946630	biolink:OrganismalEntity	Ensavirinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2946630		
MONDO:0060527	biolink:Disease	maleylacetoacetate isomerase deficiency		OMIM:617596|UMLS:C1291607	mondo.json	maleylacetoacetate isomerase deficiency|hypersuccinylacetonemia, mild|MAAI deficiency|MAAID|benign hypersuccinylacetonemia	http://purl.obolibrary.org/obo/MONDO_0060527	https://omim.org/entry/617596|UMLS:C1291607	
NCBITaxon:662	biolink:OrganismalEntity	Vibrio		PMID:21296930|PMID:17978204|PMID:24409173|PMID:8590667|PMID:1371064|PMID:21057054|GC_ID:11|PMID:4935323|PMID:7520733	mondo.json	Pacinia|Beneckea|Listonella|Microspira	http://purl.obolibrary.org/obo/NCBITaxon_662		
NCBITaxon:666	biolink:OrganismalEntity	Vibrio cholerae		PMID:1015934|PMID:9272984|GC_ID:11	mondo.json	Vibrio cholerae-asiaticae|Vibrio albensis|Spirillum cholerae-asiaticae|Kommabacillus|Bacillus cholerae|Pacinia cholerae-asiaticae|Vibrio comma|Liquidivibrio cholerae|Microspira comma|Vibrio cholera|Bacillus cholerae-asiaticae|Vibrio cholerae bv. albensis|Bacillo virgola del Koch|Spirillum cholerae|Vibrio cholerae biovar albensis	http://purl.obolibrary.org/obo/NCBITaxon_666		
HP:0000044	biolink:PhenotypicFeature	Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).	UMLS:C0271623|SNOMEDCT_US:33927004|MSH:D007006|UMLS:C3489396	mondo.json	Isolated hypogonadotropic hypogonadism|Low gonadotropins (secondary hypogonadism)|Hypogonadotrophic hypogonadism	http://purl.obolibrary.org/obo/HP_0000044		
GO:0015349	biolink:NamedThing	thyroid hormone transmembrane transporter activity	Enables the transfer of thyroid hormones from one side of a membrane to the other. Thyroid hormone are any of the compounds secreted by the thyroid gland, largely thyroxine and triiodothyronine.		mondo.json		http://purl.obolibrary.org/obo/GO_0015349		
MONDO:0035592	biolink:Disease	congenital infiltrating lipomatosis of the face		ICD10CM:Q87.3|Orphanet:583097	mondo.json	CIL-F|facial infused lipomatosis|fibroadipose infiltrating lipomatosis	http://purl.obolibrary.org/obo/MONDO_0035592	Orphanet:583097	ordo_disorder
CHEBI:17295	biolink:ChemicalSubstance	L-phenylalanine	The L-enantiomer of phenylalanine.		mondo.json	(S)-2-Amino-3-phenylpropionic acid|PHENYLALANINE|(S)-alpha-Amino-beta-phenylpropionic acid|(2S)-2-amino-3-phenylpropanoic acid|Phe|beta-phenyl-L-alanine|L-phenylalanine|L-Phenylalanine|3-phenyl-L-alanine|F	http://purl.obolibrary.org/obo/CHEBI_17295		
NCBITaxon:2946639	biolink:OrganismalEntity	Orthohepevirinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2946639		
NCBITaxon:1224679	biolink:OrganismalEntity	Diphyllobothriidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1224679		
GO:0003333	biolink:NamedThing	amino acid transmembrane transport	The process in which an amino acid is transported across a membrane.		mondo.json	amino acid membrane transport	http://purl.obolibrary.org/obo/GO_0003333		
GO:0005996	biolink:NamedThing	monosaccharide metabolic process	The chemical reactions and pathways involving monosaccharides, the simplest carbohydrates. They are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides.		mondo.json	monosaccharide metabolism	http://purl.obolibrary.org/obo/GO_0005996		
GO:0003332	biolink:NamedThing	negative regulation of extracellular matrix constituent secretion	Any process that decreases the rate, frequency, or extent the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0003332		
GO:0003331	biolink:NamedThing	positive regulation of extracellular matrix constituent secretion	Any process that increases the rate, frequency, or extent of the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0003331		
NCBITaxon:672	biolink:OrganismalEntity	Vibrio vulnificus		PMID:1015934|GC_ID:11|PMID:8186099	mondo.json	Beneckea vulnifica	http://purl.obolibrary.org/obo/NCBITaxon_672		
MONDO:0060556	biolink:Disease	joint laxity, short stature, and myopia		UMLS:C4540020|Orphanet:527450|OMIM:617662	mondo.json	joint laxity, short stature, and myopia|JLSM	http://purl.obolibrary.org/obo/MONDO_0060556	UMLS:C4540020|Orphanet:527450|https://omim.org/entry/617662	ordo_malformation_syndrome
GO:0003330	biolink:NamedThing	regulation of extracellular matrix constituent secretion	Any process that modulates the rate, frequency, or extent of the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0003330		
MONDO:0060555	biolink:Disease	vertebral, cardiac, renal, and limb defects syndrome 2		UMLS:C4540014|OMIM:617661	mondo.json	kynureninase deficiency, complete|congenital NAD deficiency disorder 2|vertebral, cardiac, renal, and limb defects syndrome 2|VCRL2	http://purl.obolibrary.org/obo/MONDO_0060555	UMLS:C4540014|https://omim.org/entry/617661	
MONDO:0060554	biolink:Disease	vertebral, cardiac, renal, and limb defects syndrome 1		UMLS:C4540004|OMIM:617660	mondo.json	vertebral, cardiac, renal, and limb defects syndrome 1|VCRL1|3-hydroxyanthranilic acidemia|congenital NAD deficiency Disorder 1	http://purl.obolibrary.org/obo/MONDO_0060554	UMLS:C4540004|https://omim.org/entry/617660	
MONDO:0060562	biolink:Disease	encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities		OMIM:617668|UMLS:C4540052	mondo.json	lipoyltransferase 2 deficiency|NELABA|encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	http://purl.obolibrary.org/obo/MONDO_0060562	UMLS:C4540052|https://omim.org/entry/617668	
HP:0000011	biolink:PhenotypicFeature	Neurogenic bladder	A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.	UMLS:C0005697|SNOMEDCT_US:398064005|MSH:D001750|SNOMEDCT_US:397732007	mondo.json	Lack of bladder control due to nervous system injury	http://purl.obolibrary.org/obo/HP_0000011		
GO:0015318	biolink:NamedThing	inorganic molecular entity transmembrane transporter activity	Enables the transfer of an inorganic molecular entity from the outside of a cell to the inside of the cell across a membrane. An inorganic molecular entity is a molecular entity that contains no carbon.		mondo.json	inorganic uptake permease activity|inorganic solute uptake transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0015318		
HP:0000014	biolink:PhenotypicFeature	Abnormality of the bladder	An abnormality of the urinary bladder.	UMLS:C0149632	mondo.json		http://purl.obolibrary.org/obo/HP_0000014		
HGNC:10379	biolink:NamedThing	MRPL3			mondo.json		http://identifiers.org/hgnc/10379		
GO:0042908	biolink:NamedThing	xenobiotic transport	The directed movement of a xenobiotic into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A xenobiotic is a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.		mondo.json	drug transport	http://purl.obolibrary.org/obo/GO_0042908		
MONDO:0060549	biolink:Disease	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay		OMIM:617641|UMLS:C4539968	mondo.json	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay|CAKUTHED	http://purl.obolibrary.org/obo/MONDO_0060549	https://omim.org/entry/617641|UMLS:C4539968	
GO:0003341	biolink:NamedThing	cilium movement	The directed, self-propelled movement of a cilium.		mondo.json	ciliary motility|flagellar movement|flagellar motility|microtubule-based flagellum movement|flagellum movement|cilium beating	http://purl.obolibrary.org/obo/GO_0003341		
MONDO:0060551	biolink:Disease	cerebellar atrophy, developmental delay, and seizures		OMIM:617643|UMLS:C4539985	mondo.json	cerebellar atrophy, developmental delay, and seizures|CADEDS	http://purl.obolibrary.org/obo/MONDO_0060551	https://omim.org/entry/617643|UMLS:C4539985	
HP:0000022	biolink:PhenotypicFeature	Abnormality of male internal genitalia	An abnormality of the male internal genitalia.	UMLS:C4025899	mondo.json		http://purl.obolibrary.org/obo/HP_0000022		
HP:0002686	biolink:PhenotypicFeature	Prenatal maternal abnormality		UMLS:C4025690	mondo.json	Maternal health problem	http://purl.obolibrary.org/obo/HP_0002686		
MONDO:0060550	biolink:Disease	polydactyly, postaxial, type a7		OMIM:617642	mondo.json	PAPA7|polydactyly, postaxial, type A7	http://purl.obolibrary.org/obo/MONDO_0060550	https://omim.org/entry/617642	
HP:0002683	biolink:PhenotypicFeature	Abnormality of the calvaria	Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone.	UMLS:C4280561|UMLS:C4025691	mondo.json	Abnormality of cranial vault|Abnormality of calvarium|Abnormality of cranium|Abnormality of the skullcap|Abnormality of the skull cap	http://purl.obolibrary.org/obo/HP_0002683		
HP:0000023	biolink:PhenotypicFeature	Inguinal hernia	Protrusion of the contents of the abdominal cavity through the inguinal canal.	MEDDRA:10022016|UMLS:C0019294|SNOMEDCT_US:396232000|MSH:D006552	mondo.json		http://purl.obolibrary.org/obo/HP_0000023		hposlim_core
HGNC:10387	biolink:NamedThing	RPS14			mondo.json		http://identifiers.org/hgnc/10387		
HP:0000025	biolink:PhenotypicFeature	Functional abnormality of male internal genitalia		UMLS:C4025898	mondo.json		http://purl.obolibrary.org/obo/HP_0000025		
HP:0000027	biolink:PhenotypicFeature	Azoospermia	Absence of any measurable level of sperm in his semen.	MSH:D053713|UMLS:C0004509|SNOMEDCT_US:48188009|SNOMEDCT_US:425558002	mondo.json	Absent sperm in semen	http://purl.obolibrary.org/obo/HP_0000027		
HGNC:10383	biolink:NamedThing	RPS10			mondo.json		http://identifiers.org/hgnc/10383		
CHR:9606-chr1q21	biolink:NamedThing	1q21 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr1q21		
MONDO:0011449	biolink:Disease	Salla disease	Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive.	SCTID:87074006|UMLS:C1096903|NCIT:C85067|Orphanet:309334|MedDRA:10067531|OMIM:604369|GARD:0004754	mondo.json	Salla disease|SD|sialuria, Finnish type|sialic acid storage disease	http://purl.obolibrary.org/obo/MONDO_0011449	UMLS:C1096903|NCIT:C85067|Orphanet:309334|http://identifiers.org/snomedct/87074006|https://omim.org/entry/604369	ordo_clinical_subtype|gard_rare
MONDO:0011448	biolink:Disease	PPARG-related familial partial lipodystrophy		OMIM:604367|DOID:0070204|GARD:0012600|Orphanet:79083	mondo.json	lipodystrophy, familial partial, type 3|PPARG-related FPLD|familial partial lipodystrophy associated with PPARG mutations|familial partial lipodystrophy type 3|FPLD3|lipodystrophy, familial partial, associated with Pparg mutations|insulin resistance, severe, digenic	http://purl.obolibrary.org/obo/MONDO_0011448	DOID:0070204|https://omim.org/entry/604367|Orphanet:79083	ordo_disease
MONDO:0011452	biolink:Disease	hypotrichosis 7	Any hypotrichosis in which the cause of the disease is a mutation in the LIPH gene.	GARD:0008178|OMIM:604379|EFO:0009163|DOID:0110704|MESH:C536973	mondo.json	hypotrichosis, autosomal recessive|total Mari type hypotrichosis,|Wh/Ht|hypotrichosis, localized, autosomal recessive 2|hypotrichosis, total, Mari type|Mari type alopecia universalis congenita|hypotrichosis caused by mutation in LIPH|LIPH hypotrichosis|hypotrichosis 7|alopecia universalis congenita, Mari type|hypotrichosis type 7|woolly hair, autosomal recessive 2 with or without hypotrichosis|woolly hair, autosomal recessive 2, with or without hypotrichosis|total hypotrichosis, Mari type|Lah2|HYPT7	http://purl.obolibrary.org/obo/MONDO_0011452	https://omim.org/entry/604379|http://identifiers.org/mesh/C536973|DOID:0110704	
MONDO:0011451	biolink:Disease	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene.	DOID:0080357|OMIM:604377	mondo.json	SCO2 fatal infantile encephalocardiomyopathy|fatal infantile encephalocardiomyopathy caused by mutation in SCO2|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1|cytochrome C oxidase deficiency, fatal infantile, with cardioencephalomyopathy|CEMCOX1|mitochondrial complex IV deficiency, nuclear type 2|cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1	http://purl.obolibrary.org/obo/MONDO_0011451	DOID:0080357|https://omim.org/entry/604377	
MONDO:0011454	biolink:Disease	patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.	OMIM:604381|Orphanet:228190|UMLS:C1858420|MESH:C565782	mondo.json	patent arterial duct-bicuspid aortic valve-hand anomalies syndrome|patent ductus arteriosus and bicuspid aortic valve with hand anomalies	http://purl.obolibrary.org/obo/MONDO_0011454	Orphanet:228190|UMLS:C1858420|https://omim.org/entry/604381|http://identifiers.org/mesh/C565782	ordo_malformation_syndrome
MONDO:0011453	biolink:Disease	ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia		OMIM:604380|UMLS:C1858422|MESH:C565783	mondo.json	ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia	http://purl.obolibrary.org/obo/MONDO_0011453	UMLS:C1858422|https://omim.org/entry/604380|http://identifiers.org/mesh/C565783	
MONDO:0011456	biolink:Disease	nephronophthisis 3	Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene.	OMIM:604387|DOID:0111114|UMLS:C1858392|MESH:C565780	mondo.json	Nph3|NPHP3 nephronophthisis (disease)|NPH3|NPHP3|nephronophthisis type 3|nephronophthisis (disease) caused by mutation in NPHP3|nephronophthisis 3	http://purl.obolibrary.org/obo/MONDO_0011456	UMLS:C1858392|DOID:0111114|https://omim.org/entry/604387|http://identifiers.org/mesh/C565780	
UBERON:0007099	biolink:AnatomicalEntity	hyoid neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007099		
UBERON:0007098	biolink:AnatomicalEntity	mandibular neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007098		
MONDO:0011455	biolink:Disease	lissencephaly, familial, with cleft palate and cerebellar hypoplasia		UMLS:C1858419|OMIM:604382|MESH:C565781	mondo.json	lissencephaly, familial, with cleft palate and cerebellar hypoplasia	http://purl.obolibrary.org/obo/MONDO_0011455	UMLS:C1858419|https://omim.org/entry/604382|http://identifiers.org/mesh/C565781	
MONDO:0011458	biolink:Disease	Leber congenital amaurosis 4	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene.	DOID:0110332|ICD10CM:H35.5|Orphanet:791|GARD:0009662|MESH:C565778|OMIM:604393|UMLS:C1858386	mondo.json	amaurosis congenita of Leber, type 4|Leber congenital amaurosis type 4|retinitis pigmentosa, juvenile|Leber congenital amaurosis 4|cone-rod dystrophy|Leber congenital amaurosis caused by mutation in AIPL1|retinitis pigmentosa, juvenile, Aipl1-related|LCA4|cone-rod dystrophy, Aipl1-related|AIPL1 Leber congenital amaurosis	http://purl.obolibrary.org/obo/MONDO_0011458	UMLS:C1858386|https://omim.org/entry/604393|http://identifiers.org/mesh/C565778|DOID:0110332	gard_rare
HP:0000633	biolink:PhenotypicFeature	Decreased lacrimation	Abnormally decreased lacrimation, that is, reduced ability to produce tears.	UMLS:C0235857	mondo.json	Decreased tear secretion	http://purl.obolibrary.org/obo/HP_0000633		
MONDO:0011457	biolink:Disease	ataxia-telangiectasia-like disorder	An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia.	ICD9:334.8|SCTID:700058006|UMLS:CN239583|MESH:C565779|OMIMPS:604391	mondo.json	ataxia - telangiectasia-like disorder|ataxia-telangiectasia-like disorder type 1|ATLD1|ATLD|ataxia-telangiectasia-like disorder 1	http://purl.obolibrary.org/obo/MONDO_0011457	UMLS:CN239583|https://omim.org/phenotypicSeries/PS604391|http://identifiers.org/mesh/C565779|http://identifiers.org/snomedct/700058006	prototype_pattern|ordo_disease
HP:0000632	biolink:PhenotypicFeature	Lacrimation abnormality	Abnormality of tear production.	UMLS:C4021801	mondo.json	Abnormality of tear production	http://purl.obolibrary.org/obo/HP_0000632		
MONDO:0035426	biolink:Disease	obsolete rare disorder potentially indicated for transplant or complication after transplantation		Orphanet:565779	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035426	Orphanet:565779	
MONDO:0035423	biolink:Disease	triglyceride deposit cardiomyovasculopathy		Orphanet:565612|ICD10CM:E75.5	mondo.json	Neutral lipid storage disease with severe cardiovascular involvement|TGCV	http://purl.obolibrary.org/obo/MONDO_0035423	Orphanet:565612	ordo_disorder
HGNC:10472	biolink:NamedThing	RUNX2			mondo.json		http://identifiers.org/hgnc/10472		
MONDO:0011450	biolink:Disease	breast-ovarian cancer, familial, susceptibility to, 1	Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene.	OMIM:604370	mondo.json	susceptibility to familial breast-ovarian cancer 1|BRCA1 hereditary breast ovarian cancer syndrome|breast-ovarian cancer, familial, susceptibility to, type 1|hereditary breast ovarian cancer syndrome caused by mutation in BRCA1|breast-ovarian cancer, familial, 1, multifactorial|breast cancer, familial, susceptibility to, 1|ovarian cancer, familial, susceptibility to, 1|breast-ovarian cancer, familial, susceptibility to, 1|BROVCA1	http://purl.obolibrary.org/obo/MONDO_0011450	https://omim.org/entry/604370	predisposition
HGNC:10471	biolink:NamedThing	RUNX1			mondo.json		http://identifiers.org/hgnc/10471		
HP:0000646	biolink:PhenotypicFeature	Amblyopia	Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.	UMLS:C0002418|SNOMEDCT_US:387742006|MSH:D000550	mondo.json	Wandering eye|Lazy eye|Wandering eyes	http://purl.obolibrary.org/obo/HP_0000646		hposlim_core
MONDO:0011438	biolink:Disease	acne	An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin.	EFO:0003894|ICD9:706.0|HP:0001061|NCIT:C27195|DOID:6543|MTH:217	mondo.json	acne vulgaris|frontalis acne|acne|acne, adult|acne (disease)|acne varioliformis	http://purl.obolibrary.org/obo/MONDO_0011438	NCIT:C27195|DOID:6543	
MONDO:0011437	biolink:Disease	microcephaly 4, primary, autosomal recessive		MESH:C565792|OMIM:604321|DOID:0070291|UMLS:C1858516	mondo.json	microcephaly 4, primary, autosomal recessive|MCPH4	http://purl.obolibrary.org/obo/MONDO_0011437	http://identifiers.org/mesh/C565792|DOID:0070291|UMLS:C1858516|https://omim.org/entry/604321	
HP:0000648	biolink:PhenotypicFeature	Optic atrophy	Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.	SNOMEDCT_US:76976005|MSH:D009896|UMLS:C0029124	mondo.json	Optic-nerve degeneration|Optic nerve atrophy	http://purl.obolibrary.org/obo/HP_0000648		hposlim_core
MONDO:0011439	biolink:Disease	spinocerebellar ataxia type 12	Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.	UMLS:C1858501|NCIT:C154316|MESH:C565790|SCTID:719208005|UMLS:C4304885|Orphanet:98762|OMIM:604326|DOID:0050962|GARD:0010476	mondo.json	SCA12|spinocerebellar ataxia 12|spinocerebellar ataxia type 12	http://purl.obolibrary.org/obo/MONDO_0011439	http://identifiers.org/mesh/C565790|DOID:0050962|NCIT:C154316|http://identifiers.org/snomedct/719208005|UMLS:C1858501|https://omim.org/entry/604326|Orphanet:98762	ordo_disease
NCBITaxon:1851469	biolink:OrganismalEntity	Trichosporonales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1851469		
NCBITaxon:2560319	biolink:OrganismalEntity	Avian orthoavulavirus 1		GC_ID:1	mondo.json	Newcastle disease virus|Avian avulavirus 1|Newcastle disease virus NDV|Avian paramyxovirus type 1|avian paramyxovirus 1|Avian Paramyxovirus Serotype I|NDV|Avian paramyxovirus type-1	http://purl.obolibrary.org/obo/NCBITaxon_2560319		
MONDO:0011441	biolink:Disease	complex regional pain syndrome type 1	Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb.	ICD10CM:M89.0|ICD9:337.21|Orphanet:99995|ICD9:733.7|OMIM:604335|ICD9:337.2|MedDRA:10064334|EFO:1001147|UMLS:C0034931|MedDRA:10038249|ICD9:337.29|SCTID:50642008|ICD9:337.20|NCIT:C85042|DOID:1811|MESH:D012019	mondo.json	RND|CRPS I|reflex neurovascular dystrophy|complex regional pain syndrome type 1|RSDS|Complex regional pain syndrome I|reflex sympathetic dystrophy syndrome|CRPS1|Algodystrophy|reflex sympathetic dystrophy	http://purl.obolibrary.org/obo/MONDO_0011441	DOID:1811|UMLS:C0034931|http://identifiers.org/snomedct/50642008|http://identifiers.org/mesh/D012019|https://omim.org/entry/604335|Orphanet:99995|NCIT:C85042	ordo_clinical_subtype
MONDO:0011440	biolink:Disease	hypertension, essential, susceptibility to, 2		OMIM:604329	mondo.json	hypertension, essential, susceptibility to, type 2|Hyt2|hypertension, essential, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0011440	https://omim.org/entry/604329	predisposition
MONDO:0011443	biolink:Disease	febrile seizures, familial, 4	Any febrile seizures, familial in which the cause of the disease is a mutation in the ADGRV1 gene.	OMIM:604352|UMLS:C1858493|MESH:C565788|DOID:0111305	mondo.json	febrile seizures, familial, type 4|convulsions, familial febrile, 4|febrile seizures, familial caused by mutation in ADGRV1|ADGRV1 febrile seizures, familial|febrile seizures, familial, 4|FEB4	http://purl.obolibrary.org/obo/MONDO_0011443	UMLS:C1858493|https://omim.org/entry/604352|DOID:0111305|http://identifiers.org/mesh/C565788	
MONDO:0011442	biolink:Disease	advanced sleep phase syndrome 1	Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene.	UMLS:C3807327|DOID:0110011|OMIM:604348	mondo.json	FASPS1|familial advanced sleep phase syndrome 1|advanced sleep phase syndrome caused by mutation in PER2|advanced sleep phase syndrome, familial, 1|advanced sleep phase syndrome, familial, type 1|PER2 advanced sleep phase syndrome|advanced sleep phase syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0011442	UMLS:C3807327|https://omim.org/entry/604348|DOID:0110011	
MONDO:0011445	biolink:Disease	hereditary spastic paraplegia 11	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene.	DOID:0110764|GARD:0004919|NCIT:C148317|OMIM:604360|SCTID:715491000|Orphanet:2822	mondo.json	Nakamura Osame syndrome|autosomal recessive spastic paraplegia 11|spastic paraplegia 11|autosomal recessive spastic paraplegia complicated with thin corpus callosum|spastic paraplegia - intellectual deficit - thin corpus callosum|hereditary spastic paraplegia type 11|SPG11|SPG11 hereditary spastic paraplegia|spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum|spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum|autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum|spastic paraplegia-intellectual disability-thin corpus callosum syndrome|hereditary spastic paraplegia mental impairment and thin corpus callosum|hereditary spastic paraplegia caused by mutation in SPG11|spastic paraplegia 11, autosomal recessive|autosomal recessive spastic paraplegia type 11|HSP-TCC|Nakamura-Osame syndrome	http://purl.obolibrary.org/obo/MONDO_0011445	DOID:0110764|http://identifiers.org/snomedct/715491000|NCIT:C148317|Orphanet:2822|https://omim.org/entry/604360	ordo_disease
MONDO:0011444	biolink:Disease	Duane retraction syndrome 2	Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene.	SCTID:128083007|OMIM:604356|GARD:0009966	mondo.json	Duane retraction syndrome 2|CHN1 Duane retraction syndrome|Duane retraction syndrome caused by mutation in CHN1|Duane retraction syndrome type 2|Duane syndrome type 2|DURS2	http://purl.obolibrary.org/obo/MONDO_0011444	http://identifiers.org/snomedct/128083007|https://omim.org/entry/604356	gard_rare
MONDO:0011447	biolink:Disease	obsolete epilepsy, familial focal, with variable foci			mondo.json		http://purl.obolibrary.org/obo/MONDO_0011447		
MONDO:0011446	biolink:Disease	myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders		OMIM:604363|MESH:C565786|UMLS:C1858478	mondo.json	myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders	http://purl.obolibrary.org/obo/MONDO_0011446	UMLS:C1858478|https://omim.org/entry/604363|http://identifiers.org/mesh/C565786	
HP:0012614	biolink:PhenotypicFeature	Abnormal urine cytology	An anomalous finding in the examination of the urine for cells.	UMLS:C0587955|SNOMEDCT_US:310439007	mondo.json		http://purl.obolibrary.org/obo/HP_0012614		
MONDO:0035437	biolink:Disease	CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome	A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported.	Orphanet:566067|ICD10CM:D89.8	mondo.json	CAIN	http://purl.obolibrary.org/obo/MONDO_0035437	Orphanet:566067	ordo_disorder
MONDO:0023419	biolink:Disease	hyperprolinemia	Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern.	DOID:0080541|ICD9:270.8|UMLS:C0268528|GARD:0002847|SCTID:59655002	mondo.json	hyperprolinemia type 1|proline oxidase deficiency|proline hydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0023419	DOID:0080541|http://identifiers.org/snomedct/59655002|UMLS:C0268528	gard_rare
HGNC:10483	biolink:NamedThing	RYR1			mondo.json		http://identifiers.org/hgnc/10483		
MONDO:0035433	biolink:Disease	calpain-3-related limb-girdle muscular dystrophy D4		ICD10CM:G71.0|Orphanet:565909	mondo.json	calpain-3-related LGMD D4|limb-girdle muscular dystrophy type D4|LGMD1I|LGMD type D4	http://purl.obolibrary.org/obo/MONDO_0035433	Orphanet:565909	ordo_disorder
HGNC:10484	biolink:NamedThing	RYR2			mondo.json		http://identifiers.org/hgnc/10484		
MONDO:0035432	biolink:Disease	POMGNT2-related limb-girdle muscular dystrophy R24		Orphanet:565899|ICD10CM:G71.0	mondo.json	LGMD type R24|limb-girdle muscular dystrophy type R24|POMGNT2-related LGMD R24|POMGNT2-related muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0035432	Orphanet:565899	ordo_disorder
MONDO:0023415	biolink:Disease	congenital candidiasis	A fungal infection by any of the Candida species that is present at birth.	MEDGEN:575892|SCTID:276672007|NCIT:C116811|UMLS:C0343875	mondo.json	Congenital Candidiasis|Congenital candidiasis|Congenital candidosis|congenital candidiasis	http://purl.obolibrary.org/obo/MONDO_0023415	NCIT:C116811|UMLS:C0343875|http://identifiers.org/snomedct/276672007	
MONDO:0011427	biolink:Disease	Ascaris lumbricoides infection, susceptibility to		OMIM:604291	mondo.json	ascariasis, susceptibility to|Ascaris lumbricoides infection, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0011427	https://omim.org/entry/604291	predisposition
HP:0000613	biolink:PhenotypicFeature	Photophobia	Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.	UMLS:C4020887|UMLS:C0085636|MSH:D020795|SNOMEDCT_US:409668002|SNOMEDCT_US:246622003	mondo.json	Light hypersensitivity|Photodysphoria|Extreme sensitivity of the eyes to light	http://purl.obolibrary.org/obo/HP_0000613		hposlim_core
MONDO:0011426	biolink:Disease	aceruloplasminemia	An adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.	Orphanet:48818|GARD:0009499|OMIM:604290|ICD9:277.6|SCTID:124224004|DOID:0050711	mondo.json	hemosiderosis, systemic, due to aceruloplasminemia|hereditary ceruloplasmin deficiency|cerebellar ataxia|familial apoceruloplasmin deficiency|hypoceruloplasminemia, hereditary|systemic hemosiderosis due to aceruloplasminemia|aceruloplasminemia|ceruloplasmin deficiency|hypoceruloplasminemia	http://purl.obolibrary.org/obo/MONDO_0011426	DOID:0050711|Orphanet:48818|http://identifiers.org/snomedct/124224004|https://omim.org/entry/604290	gard_rare|ordo_disease
MONDO:0011429	biolink:Disease	juvenile idiopathic arthritis	Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases).	SCTID:74391003|ICD9:714.33|OMIM:604302|ICD9:714.31|ICD9:714.32|NCIT:C26979|DOID:676|MedDRA:10059177|MESH:D001171|ICD10CM:M08.4|Orphanet:92|ICD9:714.3|NCIT:C114357|SCTID:410502007	mondo.json	pauciarticular onset juvenile chronic arthritis|acute juvenile rheumatoid arthritis|juvenile rheumatoid arthritis|systemic juvenile rheumatoid arthritis|pauciarticular juvenile arthritis|Juvenile idiopathic arthritis|rheumatoid arthritis, systemic juvenile|rheumatoid arthritis, systemic juvenile, susceptibility to|juvenile chronic arthritis|juvenile chronic polyarthritis|JIA|juvenile idiopathic arthritis|monarticular juvenile rheumatoid arthritis	http://purl.obolibrary.org/obo/MONDO_0011429	https://omim.org/entry/604302|DOID:676|NCIT:C114357|Orphanet:92|http://identifiers.org/mesh/D001171|http://identifiers.org/snomedct/410502007	ordo_group_of_disorders|disease_grouping
MONDO:0011428	biolink:Disease	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene.	DOID:0060783|OMIM:604292|MESH:C565799	mondo.json	ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 3|ectrodactyly, ectodermal dysplasia, and cleft Lip/palate syndrome type 3|EEC3|EEC syndrome 3|EEC syndrome caused by mutation in TP63|ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 3|TP63 EEC syndrome	http://purl.obolibrary.org/obo/MONDO_0011428	https://omim.org/entry/604292|http://identifiers.org/mesh/C565799|DOID:0060783	
HP:0000618	biolink:PhenotypicFeature	Blindness	Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation.	Fyler:4866|UMLS:C0456909|UMLS:C0271215|SNOMEDCT_US:65956007|MSH:D001766	mondo.json	Legal blindness|Blindness|Total vision loss	http://purl.obolibrary.org/obo/HP_0000618		hposlim_core
MONDO:0011430	biolink:Disease	pulverulent cataract	A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33.	UMLS:CN207240|OMIM:604307|Orphanet:98984|Orphanet:98986|UMLS:C1833118|Orphanet:98995|UMLS:C1852438|MESH:C565133	mondo.json	dusty cataract|pulverulent cataract|Coppock-like cataract	http://purl.obolibrary.org/obo/MONDO_0011430	UMLS:C1833118|http://identifiers.org/mesh/C565133|Orphanet:98984	ordo_clinical_subtype
MONDO:0035441	biolink:Disease	congenital autosomal recessive small-platelet thrombocytopenia	A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.	ICD10CM:D69.4|Orphanet:566192	mondo.json	CARST	http://purl.obolibrary.org/obo/MONDO_0035441	Orphanet:566192	ordo_disorder
MONDO:0011432	biolink:Disease	blepharophimosis - intellectual disability syndrome, Verloes type		Orphanet:293725|UMLS:C1858538|MESH:C565797|OMIM:604314	mondo.json	blepharophimosis with facial and genital anomalies and mental retardation|BMRS, Verloes type|blepharophimosis with facial and genital anomalies and intellectual disability|BMRS type V|blepharophimosis-intellectual disability syndrome type V|blepharophimosis-mental retardation syndrome, Verloes type|blepharophimosis-intellectual disability syndrome, Verloes type	http://purl.obolibrary.org/obo/MONDO_0011432	Orphanet:293725|UMLS:C1858538|https://omim.org/entry/604314|http://identifiers.org/mesh/C565797	ordo_malformation_syndrome
MONDO:0011431	biolink:Disease	MASS syndrome	A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms.	Orphanet:99715|GARD:0008489|MESH:C536030|OMIM:604308|UMLS:C1858556	mondo.json	OCTD|MASS syndrome|MASS phenotype|Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings|overlap connective tissue disease	http://purl.obolibrary.org/obo/MONDO_0011431	UMLS:C1858556|http://identifiers.org/mesh/C536030|Orphanet:99715|https://omim.org/entry/604308	gard_rare
MONDO:0011434	biolink:Disease	psoriasis 5, susceptibility to		DOID:0111282|OMIM:604316	mondo.json	PSORS5|psoriasis susceptibility 5|psoriasis 5, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0011434	DOID:0111282|https://omim.org/entry/604316	
MONDO:0011433	biolink:Disease	anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome		UMLS:C1858537|MESH:C565796|OMIM:604315	mondo.json	anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome|anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0011433	UMLS:C1858537|https://omim.org/entry/604315|http://identifiers.org/mesh/C565796	
MONDO:0011436	biolink:Disease	autosomal recessive distal spinal muscular atrophy 1	Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.	Orphanet:98920|SCTID:711483003|UMLS:C1858517|MESH:C536880|DOID:0111064|GARD:0008592|ICD9:335.19|OMIM:604320	mondo.json	HMN 6|spinal muscular atrophy caused by mutation in IGHMBP2|spinal muscular atrophy with respiratory distress 1|spinal muscular atrophy, diaphragmatic|autosomal recessive spinal muscular atrophy with respiratory distress|SMARD1|Hmn6|autosomal recessive distal spinal muscular atrophy type 1|dSMA1|SIANRF|diaphragmatic spinal muscular atrophy|neuronopathy, distal hereditary motor, type VI|severe infantile axonal neuropathy with respiratory failure type 1|spinal muscular atrophy, distal, autosomal recessive, type 1|spinal muscular atrophy with respiratory distress type 1|autosomal recessive distal spinal muscular atrophy 1|neuronopathy, distal hereditary motor, type 6|distal hereditary motor neuropathy type 6|DSMA1|spinal muscular atrophy, distal, autosomal recessive, 1|distal-HMN type 6|IGHMBP2 spinal muscular atrophy|neuronopathy, Severe infantile axonal, with respiratory failure|severe infantile axonal neuropathy with respiratory failure|dHMN6|HMN VI	http://purl.obolibrary.org/obo/MONDO_0011436	http://identifiers.org/mesh/C536880|http://identifiers.org/snomedct/711483003|UMLS:C1858517|DOID:0111064|https://omim.org/entry/604320|Orphanet:98920	ordo_disease
MONDO:0011435	biolink:Disease	microcephaly 2, primary, autosomal recessive, with or without cortical malformations		DOID:0070293|UMLS:C1858535|OMIM:604317|MESH:C565794	mondo.json	MCPH2|microcephaly 2, primary, autosomal recessive, with or without cortical malformations	http://purl.obolibrary.org/obo/MONDO_0011435	http://identifiers.org/mesh/C565794|DOID:0070293|UMLS:C1858535|https://omim.org/entry/604317	
HP:0000610	biolink:PhenotypicFeature	Abnormal choroid morphology	Any structural abnormality of the choroid.	UMLS:C0008521|UMLS:C4025836|MSH:D015862	mondo.json	Abnormality of the choroid|Choroid disease	http://purl.obolibrary.org/obo/HP_0000610		hposlim_core
HGNC:10457	biolink:NamedThing	RS1			mondo.json		http://identifiers.org/hgnc/10457		
MONDO:0035449	biolink:Disease	atelencephaly		Orphanet:566852	mondo.json	atelencephalic microcephaly	http://purl.obolibrary.org/obo/MONDO_0035449	Orphanet:566852	ordo_subtype_of_a_disorder
MONDO:0035448	biolink:Disease	obsolete aprosencephaly/atelencephaly spectrum	OBSOLETE. A group of rare central nervous system malformations characterized by varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i. e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies. [Orphanet:566847]	Orphanet:566847	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035448	Orphanet:566847	
MONDO:0035447	biolink:Disease	liver adenomatosis	A rare neoplastic disease characterized by the presence of ten or more hepatocellular adenomas in a background of normal appearing hepatic parenchyma. The majority of reported cases are female. There is no association with steroid use. The condition is considered benign, although the risk of complications (such as malignant transformation or spontaneous rupture with intraperitoneal hemorrhage) is much higher than in isolated hepatic adenoma. Hepatocellular carcinoma develops in less than 10% of cases.	ICD10CM:D13.4|Orphanet:566841	mondo.json	Hepatic adenomatosis	http://purl.obolibrary.org/obo/MONDO_0035447	Orphanet:566841	ordo_disorder
MONDO:0035445	biolink:Disease	chronic mast cell leukemia	A rare form of mast cell leukemia characterized by the presence of at least 20% mast cells in bone marrow aspirate smears but often mature mast cell morphology, low proliferation rate, and absence of organ damage and C findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption). The disease course is less aggressive than in the acute form, although patients may later progress.	ICD10CM:C94.3|Orphanet:566396	mondo.json	Chronic MCL	http://purl.obolibrary.org/obo/MONDO_0035445	Orphanet:566396	ordo_subtype_of_a_disorder
MONDO:0035444	biolink:Disease	acute mast cell leukemia	A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor.	ICD10CM:C94.3|Orphanet:566393	mondo.json	Acute MCL	http://purl.obolibrary.org/obo/MONDO_0035444	Orphanet:566393	ordo_subtype_of_a_disorder
UBERON:0019042	biolink:AnatomicalEntity	reproductive system mucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019042		
HGNC:22448	biolink:NamedThing	NOBOX			mondo.json		http://identifiers.org/hgnc/22448		
MONDO:0011416	biolink:Disease	generalized epilepsy with febrile seizures plus, type 1		MESH:C565809|DOID:0111302|OMIM:604233|UMLS:C1858672	mondo.json	GEFSP1|Gefs+, type 1|generalized epilepsy with febrile seizures plus, type 1	http://purl.obolibrary.org/obo/MONDO_0011416	https://omim.org/entry/604233|DOID:0111302|http://identifiers.org/mesh/C565809|UMLS:C1858672	
MONDO:0011415	biolink:Disease	Leber congenital amaurosis 3	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene.	MESH:C565814|DOID:0110331|OMIM:604232|ICD10CM:H35.5|GARD:0009661	mondo.json	Leber congenital amaurosis caused by mutation in SPATA7|Leber congenital amaurosis 3|retinitis pigmentosa, juvenile, Spata7-related|retinitis pigmentosa, juvenile, autosomal recessive|amaurosis congenita of Leber, type 3|Leber congenital amaurosis type 3|SPATA7 Leber congenital amaurosis|LCA3	http://purl.obolibrary.org/obo/MONDO_0011415	https://omim.org/entry/604232|DOID:0110331|http://identifiers.org/mesh/C565814	gard_rare
MONDO:0011418	biolink:Disease	dyslexia, susceptibility to, 3		OMIM:604254	mondo.json	dyslexia, susceptibility to, 3|DYX3	http://purl.obolibrary.org/obo/MONDO_0011418	https://omim.org/entry/604254	predisposition
MONDO:0011417	biolink:Disease	hemochromatosis type 3	Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.	DOID:0111030|Orphanet:225123|OMIM:604250|SCTID:719974003|UMLS:C1858664|GARD:0010093|MESH:C537248	mondo.json	TFR2-related hemochromatosis|hemochromatosis type 3|TFR2 hereditary hemochromatosis|hemochromatosis due to defect in transferrin receptor 2|HFE3|hemochromatosis, type 3|hereditary hemochromatosis caused by mutation in TFR2	http://purl.obolibrary.org/obo/MONDO_0011417	http://identifiers.org/mesh/C537248|Orphanet:225123|https://omim.org/entry/604250|DOID:0111030|http://identifiers.org/snomedct/719974003|UMLS:C1858664	ordo_disease|gard_rare
HP:0000625	biolink:PhenotypicFeature	Eyelid coloboma	A short discontinuity of the margin of the lower or upper eyelid.	UMLS:C0521573|SNOMEDCT_US:95202004	mondo.json	Full thickness defect of the eyelid|Notched eyelid|Cleft eyelid|Eyelid coloboma	http://purl.obolibrary.org/obo/HP_0000625		hposlim_core
MONDO:0011419	biolink:Disease	camera-Marugo-Cohen syndrome		MESH:C537964|OMIM:604257|GARD:0008413|UMLS:C1858661	mondo.json	camera-Marugo-Cohen syndrome|obesity, intellectual disability, body asymmetry, and muscle weakness|camera Marugo Cohen syndrome|obesity, mental retardation, body asymmetry, and muscle weakness	http://purl.obolibrary.org/obo/MONDO_0011419	https://omim.org/entry/604257|http://identifiers.org/mesh/C537964|UMLS:C1858661	gard_rare
MONDO:0035452	biolink:Disease	mueller-weiss syndrome	A rare bone disease characterized by spontaneous adult-onset tarsal navicular osteonecrosis. Patients present with chronic mid- and hindfoot pain, swelling and tenderness over the dorsomedial aspect of the midfoot, flattening of the medial longitudinal arch, and pes planovarus. Radiographic findings include comma-shaped deformity due to collapse of the lateral part of the navicular bone and medial or dorsal protrusion of a portion or the entire bone. The condition may be bilateral or asymmetric and associated with pathological fractures.	Orphanet:566943	mondo.json	Brailsford disease|Mueller-Weiss osteonecrosis of the tarsal bone	http://purl.obolibrary.org/obo/MONDO_0035452	Orphanet:566943	ordo_disorder
MONDO:0035451	biolink:Disease	obsolete left sided atrial isomerism		Orphanet:566862	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035451	Orphanet:566862	
MONDO:0035450	biolink:Disease	aprosencephaly		Orphanet:566857	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035450	Orphanet:566857	ordo_subtype_of_a_disorder
MONDO:0011421	biolink:Disease	mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene.	UMLS:C3276276|DOID:0050768|GARD:0001459|OMIM:604273	mondo.json	mitochondrial complex V (ATP synthase) deficiency, nuclear type 1|mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 1|MC5DN1|ATPAF2 mitochondrial proton-transporting ATP synthase complex deficiency|mitochondrial complex V deficiency|mitochondrial Complex 5 (ATP synthase) deficiency, Atpaf2 type|Complex 5 mitochondrial respiratory chain deficiency|mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATPAF2	http://purl.obolibrary.org/obo/MONDO_0011421	UMLS:C3276276|https://omim.org/entry/604273|DOID:0050768	gard_rare|prototype_pattern
MONDO:0011420	biolink:Disease	short stature due to partial GHR deficiency	Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.	OMIM:604271|MESH:C565805|Orphanet:314802	mondo.json	increased responsiveness to Growth hormone|short stature due to partial growth hormone receptor deficiency|Growth hormone, insensitivity to, partial|GHIP|growth hormone insensitivity, partial|Growth hormone deficiency, isolated, partial	http://purl.obolibrary.org/obo/MONDO_0011420	Orphanet:314802|https://omim.org/entry/604271|http://identifiers.org/mesh/C565805	ordo_disease
MONDO:0011423	biolink:Disease	autosomal recessive limb-girdle muscular dystrophy type 2E	Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.	GARD:0003851|DOID:0110279|Orphanet:119|OMIM:604286|GARD:0000870|SCTID:718850008	mondo.json	beta-sarcoglycanopathy|muscular dystrophy, limb-girdle, type 2E|LGMD2E|limb-girdle muscular dystrophy type 2E|autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB|muscular dystrophy limb-girdle with beta-sarcoglycan deficiency|Beta-sarcoglycan limb-girdle muscular dystrophy|limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency|muscular dystrophy, limb-girdle, autosomal recessive 4|SGCB autosomal recessive limb-girdle muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0011423	DOID:0110279|http://identifiers.org/snomedct/718850008|Orphanet:119|https://omim.org/entry/604286	gard_rare|ordo_disease
MONDO:0011422	biolink:Disease	autosomal recessive proximal renal tubular acidosis	Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features.	OMIM:604278|UMLS:C1970309|Orphanet:93607|MESH:C567038	mondo.json	renal tubular acidosis, proximal, with ocular abnormalities and intellectual disability|RTA, proximal, autosomal recessive|renal tubular acidosis, proximal, with ocular abnormalities|proximal renal tubular acidosis, autosomal recessive|renal tubular acidosis, proximal, with ocular abnormalities and mental retardation|proximal renal tubular acidosis with ocular abnormalities and intellectual disability|AR pRTA	http://purl.obolibrary.org/obo/MONDO_0011422	Orphanet:93607|UMLS:C1970309|http://identifiers.org/mesh/C567038|https://omim.org/entry/604278	ordo_clinical_subtype
HP:0000622	biolink:PhenotypicFeature	Blurred vision	Lack of sharpness of vision resulting in the inability to see fine detail.	SNOMEDCT_US:246636008|SNOMEDCT_US:111516008|UMLS:C0344232	mondo.json	Blurred vision	http://purl.obolibrary.org/obo/HP_0000622		hposlim_core
MONDO:0011425	biolink:Disease	dilated cardiomyopathy 1H	A dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22.	MESH:C536277|UMLS:C1858591|DOID:0110429|OMIM:604288	mondo.json	CMD1H|cardiomyopathy, dilated, with conduction defect|cardiomyopathy, dilated, 1H|dilated cardiomyopathy type 1H|dilated cardiomyopathy with conduction defect	http://purl.obolibrary.org/obo/MONDO_0011425	DOID:0110429|UMLS:C1858591|http://identifiers.org/mesh/C536277|https://omim.org/entry/604288	
MONDO:0011424	biolink:Disease	Carney triad	Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.	NCIT:C94833|SCTID:733492003|Orphanet:139411|OMIM:604287|GARD:0010924|MESH:C565803|UMLS:C1858592	mondo.json	Carney triad|gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma	http://purl.obolibrary.org/obo/MONDO_0011424	http://identifiers.org/mesh/C565803|Orphanet:139411|UMLS:C1858592|http://identifiers.org/snomedct/733492003|NCIT:C94833|https://omim.org/entry/604287	ordo_disease|gard_rare
HGNC:10468	biolink:NamedThing	RTN2			mondo.json		http://identifiers.org/hgnc/10468		
MONDO:0035459	biolink:Disease	idiopathic multidrug-resistant nephrotic syndrome		ICD10CM:N04.8|Orphanet:567550	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035459	Orphanet:567550	ordo_subtype_of_a_disorder
MONDO:0035454	biolink:Disease	B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome		Orphanet:567502	mondo.json	BILU syndrome|Hoffman syndrome	http://purl.obolibrary.org/obo/MONDO_0035454	Orphanet:567502	ordo_disorder
UBERON:0034670	biolink:AnatomicalEntity	palatal taste bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034670		
MONDO:0023472	biolink:Disease	chondrodysplasia situs inversus imperforate anus polydactyly		GARD:0001299	mondo.json	impossible syndrome	http://purl.obolibrary.org/obo/MONDO_0023472		gard_rare
MONDO:0011496	biolink:Disease	mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.	MESH:C565740|OMIM:604864|Orphanet:93279|SCTID:254064009|ICD9:755.63|UMLS:C1858079	mondo.json	OSCDP|Namaqualand hip dysplasia|osteoarthritis with mild chondrodysplasia	http://purl.obolibrary.org/obo/MONDO_0011496	https://omim.org/entry/604864|http://identifiers.org/mesh/C565740|Orphanet:93279|http://identifiers.org/snomedct/254064009	ordo_disease
HGNC:10432	biolink:NamedThing	RPS6KA3			mondo.json		http://identifiers.org/hgnc/10432		
MONDO:0011495	biolink:Disease	obsolete Langerhans-cell histiocytosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0011495		
MONDO:0011498	biolink:Disease	schizophrenia 9	A schizophrenia that has material basis in a mutation of DISC1 on chromosome 1q42.2.	UMLS:C1858050|DOID:0070085|OMIM:604906	mondo.json	schizophrenia 9 with or without an affective disorder|schizophrenia 9, susceptibility to|schizophrenia 9|schizophrenia susceptibility locus, chromosome 1Q42-related|SCZD9|schizophrenia type 9	http://purl.obolibrary.org/obo/MONDO_0011498	https://omim.org/entry/604906|DOID:0070085|UMLS:C1858050	
MONDO:0011497	biolink:Disease	hereditary North American Indian childhood cirrhosis	Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence.	OMIM:604901|Orphanet:168583|UMLS:C1858051|MESH:C565737|SCTID:699189004	mondo.json	NAIC|NORTH American Indian childhood cirrhosis	http://purl.obolibrary.org/obo/MONDO_0011497	http://identifiers.org/snomedct/699189004|http://identifiers.org/mesh/C565737|https://omim.org/entry/604901|Orphanet:168583|UMLS:C1858051	ordo_clinical_subtype
MONDO:0011499	biolink:Disease	Okamoto syndrome	Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported.	Orphanet:2729|SCTID:722065002|UMLS:C1858043|MESH:C565736|GARD:0004064|OMIM:604916	mondo.json	hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and intellectual disability|hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation|congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and mental retardation|congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and intellectual disability|Okamoto syndrome	http://purl.obolibrary.org/obo/MONDO_0011499	Orphanet:2729|http://identifiers.org/mesh/C565736|https://omim.org/entry/604916|http://identifiers.org/snomedct/722065002|UMLS:C1858043	ordo_malformation_syndrome|gard_rare
MONDO:0011490	biolink:Disease	diffuse panbronchiolitis	Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis	GARD:0008526|Orphanet:171700|OMIM:604809|UMLS:C0878555|MedDRA:10062952|MESH:C536174|SCTID:430476004|ICD9:491.8	mondo.json	PBLT|DPb|panbronchiolitis, diffuse	http://purl.obolibrary.org/obo/MONDO_0011490	https://omim.org/entry/604809|UMLS:C0878555|Orphanet:171700|http://identifiers.org/snomedct/430476004|http://identifiers.org/mesh/C536174	ordo_disease|gard_rare
MONDO:0011492	biolink:Disease	mandibulofacial dysostosis syndrome, Bauru type		OMIM:604830|UMLS:C1858101|MESH:C565744	mondo.json	mandibulofacial dysostosis syndrome, Bauru type	http://purl.obolibrary.org/obo/MONDO_0011492	http://identifiers.org/mesh/C565744|https://omim.org/entry/604830|UMLS:C1858101	
MONDO:0011491	biolink:Disease	epilepsy, idiopathic generalized, susceptibility to, 7		DOID:0111321|OMIM:604827|Orphanet:307	mondo.json	epilepsy, juvenile myoclonic|EIG7|myoclonic epilepsy, juvenile, 2|epilepsy, idiopathic generalized, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0011491	DOID:0111321|https://omim.org/entry/604827	predisposition
MONDO:0011494	biolink:Disease	hyaluronan metabolism, defect 1N		MESH:C565742|OMIM:604855|UMLS:C1858083	mondo.json	hyaluronan metabolism, defect type 1N|hyaluronan metabolism, defect IN	http://purl.obolibrary.org/obo/MONDO_0011494	http://identifiers.org/mesh/C565742|https://omim.org/entry/604855|UMLS:C1858083	
MONDO:0011493	biolink:Disease	Stickler syndrome type 2	Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21).	UMLS:C1858084|OMIM:604841|NCIT:C74985|MESH:C537493|GARD:0005020|Orphanet:90654	mondo.json	Stickler syndrome, vitreous type 2|Stickler syndrome caused by mutation in COL11A1|Stickler syndrome type II|STL 2|STICKLER syndrome, type II|STL2|Stickler syndrome, beaded vitreous type|Stickler syndrome, type 2|COL11A1 Stickler syndrome	http://purl.obolibrary.org/obo/MONDO_0011493	Orphanet:90654|https://omim.org/entry/604841|NCIT:C74985|UMLS:C1858084|http://identifiers.org/mesh/C537493	ordo_clinical_subtype|gard_rare
UBERON:0034681	biolink:AnatomicalEntity	vocal organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034681		
NCBITaxon:5719	biolink:OrganismalEntity	Parabasalia		PMID:20093080|GC_ID:1	mondo.json	parabasalians|Parabasalidea|parabasalids	http://purl.obolibrary.org/obo/NCBITaxon_5719		
MONDO:0011485	biolink:Disease	autosomal recessive congenital ichthyosis 5	An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13.	GARD:0009734|OMIM:604777|MESH:C537265|DOID:0060714	mondo.json	type 3 lamellar ichthyosis|ichthyosis, congenital, autosomal recessive type 5|ARCI5|ichthyosis congenita III|ichthyosis congenita 3|ichthyosis, Nonlamellar and Nonerythrodermic, congenital, autosomal recessive|ichthyosis lamellar 3|autosomal recessive congenital ichthyosis type 5|autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis|ichthyosis, lamellar, 3, formerly|NNCI|LI3, formerly|ichthyosis, lamellar, 3|ichthyosis, NONLAMELLAR and NONERYTHRODERMIC, congenital, autosomal recessive|autosomal recessive congenital ichthyosis 5|ichthyosis, congenital, autosomal recessive 5|lamellar ichthyosis, type 3	http://purl.obolibrary.org/obo/MONDO_0011485	http://identifiers.org/mesh/C537265|https://omim.org/entry/604777|DOID:0060714	gard_rare
MONDO:0011484	biolink:Disease	catecholaminergic polymorphic ventricular tachycardia 1	Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene.	UMLS:C4053736|OMIM:604772|DOID:0060675|ICD10CM:I47.2|NCIT:C123414	mondo.json	ventricular tachycardia, catecholaminergic polymorphic, 1|catecholaminergic polymorphic ventricular tachycardia type 1|ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy|CVPT1|ventricular tachycardia, stress-induced polymorphic|CPVT1|catecholaminergic polymorphic ventricular tachycardia 1	http://purl.obolibrary.org/obo/MONDO_0011484	https://omim.org/entry/604772|DOID:0060675|UMLS:C4053736|NCIT:C123414	
MONDO:0011487	biolink:Disease	Huntington disease-like 3	Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.	OMIM:604802|Orphanet:157946|MESH:C565747|UMLS:C1858114	mondo.json	HDL3|Huntington disease-like type 3|Huntington disease-like 3|Huntington disease-like neurodegenerative disorder, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0011487	http://identifiers.org/mesh/C565747|https://omim.org/entry/604802|Orphanet:157946|UMLS:C1858114	ordo_disease
MONDO:0011486	biolink:Disease	congenital muscular dystrophy 1B	Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.	UMLS:C1858118|OMIM:604801|SCTID:764944006|DOID:0110634|MESH:C565748|Orphanet:98893	mondo.json	congenital muscular dystrophy type 1B|MDC1B|CMD1B|muscular dystrophy, congenital, 1B	http://purl.obolibrary.org/obo/MONDO_0011486	http://identifiers.org/snomedct/764944006|Orphanet:98893|https://omim.org/entry/604801|http://identifiers.org/mesh/C565748|DOID:0110634|UMLS:C1858118	ordo_disease
MONDO:0011489	biolink:Disease	hereditary spastic paraplegia 12	Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.	OMIM:604805|UMLS:C1858106|DOID:0110765|Orphanet:100993|SCTID:763374004|MESH:C537484|GARD:0009586	mondo.json	SPG12|hereditary spastic paraplegia caused by mutation in RTN2|RTN2 hereditary spastic paraplegia|autosomal dominant spastic paraplegia 12|spastic paraplegia 12, autosomal dominant|autosomal dominant spastic paraplegia type 12|spastic paraplegia 12|hereditary spastic paraplegia type 12	http://purl.obolibrary.org/obo/MONDO_0011489	UMLS:C1858106|Orphanet:100993|http://identifiers.org/mesh/C537484|https://omim.org/entry/604805|DOID:0110765|http://identifiers.org/snomedct/763374004	ordo_disease
MONDO:0011488	biolink:Disease	microcephaly 3, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene.	MESH:C565746|UMLS:C1858108|OMIM:604804|DOID:0070286	mondo.json	microcephaly 3, primary, autosomal recessive|MCPH3|CDK5RAP2 autosomal recessive primary microcephaly|autosomal recessive primary microcephaly caused by mutation in CDK5RAP2	http://purl.obolibrary.org/obo/MONDO_0011488	http://identifiers.org/mesh/C565746|https://omim.org/entry/604804|DOID:0070286|UMLS:C1858108	
MONDO:0011481	biolink:Disease	craniosynostosis 2	A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.	OMIM:604757|GARD:0005538|SCTID:720817008|Orphanet:1541	mondo.json	Warman-Mulliken-Hayward syndrome|craniosynostosis type 2|craniosynostosis 2|CRS2|craniosynostosis, Warman type|Warman Mulliken Hayward syndrome|craniosynostosis Warman type|MSX2-related craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0011481	Orphanet:1541|https://omim.org/entry/604757|http://identifiers.org/snomedct/720817008	ordo_malformation_syndrome
MONDO:0011480	biolink:Disease	autosomal dominant nonsyndromic hearing loss 20	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene.	OMIM:604717|UMLS:C1858172|DOID:0110550|MESH:C565754	mondo.json	deafness, autosomal dominant 20/26|deafness, autosomal dominant 20|autosomal dominant deafness 20|DFNA20|autosomal dominant nonsyndromic deafness 20|deafness, autosomal dominant type 20|autosomal dominant nonsyndromic deafness caused by mutation in ACTG1|DFNA26|autosomal dominant nonsyndromic deafness type 20|ACTG1 autosomal dominant nonsyndromic deafness	http://purl.obolibrary.org/obo/MONDO_0011480	https://omim.org/entry/604717|http://identifiers.org/mesh/C565754|DOID:0110550|UMLS:C1858172	
HGNC:10440	biolink:NamedThing	RPS7			mondo.json		http://identifiers.org/hgnc/10440		
MONDO:0011483	biolink:Disease	polycystic bone disease		GARD:0008571|MESH:C536324|OMIM:604771|UMLS:C1858143	mondo.json	polycystic bone disease|Pcbd	http://purl.obolibrary.org/obo/MONDO_0011483	http://identifiers.org/mesh/C536324|https://omim.org/entry/604771|UMLS:C1858143	gard_rare
MONDO:0011482	biolink:Disease	dilated cardiomyopathy 1I	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene.	UMLS:C1858154|MESH:C565752|OMIM:604765|DOID:0110431	mondo.json	CMD1I|cardiomyopathy, dilated, type 1I|DES familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in DES|cardiomyopathy, dilated, 1I|dilated cardiomyopathy type 1I	http://purl.obolibrary.org/obo/MONDO_0011482	https://omim.org/entry/604765|http://identifiers.org/mesh/C565752|DOID:0110431|UMLS:C1858154	
HP:0000657	biolink:PhenotypicFeature	Oculomotor apraxia	Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.	UMLS:C3489733|SNOMEDCT_US:193662007|MSH:C537423|UMLS:C4020886	mondo.json	Defective or absent horizontal voluntary eye movements|Ocular motor apraxia	http://purl.obolibrary.org/obo/HP_0000657		hposlim_core
UBERON:0034696	biolink:AnatomicalEntity	fold of peritoneum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034696		
MONDO:0011474	biolink:Disease	progressive familial heart block type IB	Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene.	DOID:0111076|GARD:0002610|MESH:C567037|SCTID:698250005|OMIM:604559|ICD9:426.6	mondo.json	progressive familial heart block, type IB|progressive familial heart block, type 1B|heart block progressive familial type 1B|Pfhbib|PFHB1B|TRPM4 progressive familial heart block|progressive familial heart block caused by mutation in TRPM4|progressive familial heart block type 1B	http://purl.obolibrary.org/obo/MONDO_0011474	http://identifiers.org/mesh/C567037|DOID:0111076|https://omim.org/entry/604559|http://identifiers.org/snomedct/698250005	
MONDO:0011473	biolink:Disease	Leber congenital amaurosis 5	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene.	UMLS:C1858301|OMIM:604537|MESH:C536602|DOID:0110215|ICD10CM:H35.5|GARD:0009983	mondo.json	Leber congenital amaurosis caused by mutation in LCA5|LCA5|LCA5 Leber congenital amaurosis|Leber congenital amaurosis type 5|Leber congenital amaurosis 5|amaurosis congenita of Leber, type 5	http://purl.obolibrary.org/obo/MONDO_0011473	UMLS:C1858301|https://omim.org/entry/604537|http://identifiers.org/mesh/C536602|DOID:0110215	gard_rare
HGNC:10411	biolink:NamedThing	RPS24			mondo.json		http://identifiers.org/hgnc/10411		
MONDO:0011476	biolink:Disease	MHC class I deficiency	Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections.	DOID:0060009|OMIM:604571|GARD:0008427|UMLS:C1858266|SCTID:725136003|Orphanet:34592	mondo.json	bare lymphocyte syndrome, type I, due to TAP2 deficiency|bare lymphocyte syndrome type I|immunodeficiency by defective expression of HLA class 1|BLSI|Bare lymphocyte syndrome, type 1|HLA Class 1 deficiency|HLA CLASS I deficiency|Bare lymphocyte syndrome type 1|BARE lymphocyte syndrome, type I|BLS type 1|immunodeficiency by defective expression of HLA class type 1|Bls, type 1|BLS, type I	http://purl.obolibrary.org/obo/MONDO_0011476	Orphanet:34592|UMLS:C1858266|https://omim.org/entry/604571|http://identifiers.org/snomedct/725136003|DOID:0060009	ordo_disease
HP:0000651	biolink:PhenotypicFeature	Diplopia	Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.	SNOMEDCT_US:24982008|MSH:D004172|UMLS:C0012569	mondo.json	Double vision	http://purl.obolibrary.org/obo/HP_0000651		hposlim_core
MONDO:0011475	biolink:Disease	Charcot-Marie-Tooth disease type 4B2	Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.	GARD:0009200|UMLS:C1858278|Orphanet:99956|SCTID:715800000|DOID:0110190|MESH:C535421|OMIM:604563	mondo.json	autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2|Charcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2|Charcot-Marie-Tooth neuropathy, type 4B2, with early-onset glaucoma|Charcot Marie Tooth disease type 4B2|CMT 4B2|Charcot-Marie-Tooth disease, type 4B2|Charcot-Marie-Tooth neuropathy, type 4B2|Charcot-Marie-Tooth neuropathy type 4B2|Charcot-Marie-Tooth disease type 4 caused by mutation in SBF2|Charcot-Marie-Tooth disease, type 4B2, with early-onset glaucoma|CMT4B2|SBF2 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4B2	http://purl.obolibrary.org/obo/MONDO_0011475	UMLS:C1858278|Orphanet:99956|https://omim.org/entry/604563|DOID:0110190|http://identifiers.org/mesh/C535421|http://identifiers.org/snomedct/715800000	ordo_disease|gard_rare
MONDO:0011478	biolink:Disease	growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia		UMLS:C1858182|OMIM:604690|MESH:C565755	mondo.json	growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia|Roca-Weidemann syndrome|growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia|Roca syndrome	http://purl.obolibrary.org/obo/MONDO_0011478	UMLS:C1858182|https://omim.org/entry/604690|http://identifiers.org/mesh/C565755	
HGNC:10414	biolink:NamedThing	RPS26			mondo.json		http://identifiers.org/hgnc/10414		
MONDO:0011477	biolink:Disease	tooth agenesis, selective, 3	Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene.	OMIM:604625|UMLS:C1970291|MESH:C567036	mondo.json	hypodontia/oligodontia 3|STHAG3|tooth agenesis, selective, 3|tooth agenesis caused by mutation in PAX9|PAX9 tooth agenesis|tooth agenesis, selective, type 3	http://purl.obolibrary.org/obo/MONDO_0011477	UMLS:C1970291|http://identifiers.org/mesh/C567036|https://omim.org/entry/604625	
MONDO:0011479	biolink:Disease	postural orthostatic tachycardia syndrome	A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart.	EFO:1000645|OMIM:604715|DOID:0111154|MESH:D054972|SCTID:8074002|Orphanet:443236	mondo.json	neurocirculatory asthenia|orthostatic intolerance due to NET deficiency|orthostatic intolerance|POTS|postural tachycardia syndrome due to NET deficiency|soldiers heart|familial orthostatic tachycardia due to norepinephrine transporter deficiency|orhtostatic intolerance|Soldiers heart|irritable heart	http://purl.obolibrary.org/obo/MONDO_0011479	Orphanet:443236|DOID:0111154|https://omim.org/entry/604715|http://identifiers.org/mesh/D054972|http://identifiers.org/snomedct/8074002	ordo_disease
MONDO:0035405	biolink:Disease	seromucinous cystadenoma of childhood		Orphanet:563676|ICD10CM:D27	mondo.json	Seromucinous cystadenoma of ovary in childhood	http://purl.obolibrary.org/obo/MONDO_0035405	Orphanet:563676	ordo_subtype_of_a_disorder
MONDO:0035404	biolink:Disease	mucinous cystadenoma of childhood		Orphanet:563671|ICD10CM:D27	mondo.json	Mucinous cystadenoma of ovary in childhood	http://purl.obolibrary.org/obo/MONDO_0035404	Orphanet:563671	ordo_subtype_of_a_disorder
HP:0012647	biolink:PhenotypicFeature	Abnormal inflammatory response	Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.	UMLS:C4022805	mondo.json	Abnormal inflammatory response	http://purl.obolibrary.org/obo/HP_0012647		
MONDO:0035403	biolink:Disease	serous cystadenoma of childhood		Orphanet:563666|ICD10CM:D27	mondo.json	Serous cystadenoma of ovary in childhood	http://purl.obolibrary.org/obo/MONDO_0035403	Orphanet:563666	ordo_subtype_of_a_disorder
MONDO:0035402	biolink:Disease	isolated exencephaly		ICD10CM:Q00.0|Orphanet:563612	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035402	Orphanet:563612	ordo_subtype_of_a_disorder
HP:0012649	biolink:PhenotypicFeature	Increased inflammatory response	A abnormal increase in the inflammatory response to injury or infection.	UMLS:C4022803	mondo.json		http://purl.obolibrary.org/obo/HP_0012649		
MONDO:0035401	biolink:Disease	isolated anencephaly		Orphanet:563609|ICD10CM:Q00.0	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035401	Orphanet:563609	ordo_subtype_of_a_disorder
MONDO:0011470	biolink:Disease	hyperlipidemia, combined, 2		MESH:C565766|UMLS:C1858308|OMIM:604499	mondo.json	hyperlipidemia, combined, 2|hyperlipidemia, combined, type 2|hyplip2|hyperlipidemia, familial combined, 2	http://purl.obolibrary.org/obo/MONDO_0011470	https://omim.org/entry/604499|http://identifiers.org/mesh/C565766|UMLS:C1858308	
MONDO:0035400	biolink:Disease	seronegative autoimmune hepatitis	A form of autoimmune hepatitis characterized by the features of classic autoimmune hepatitis (i. e. clinical presentation as acute or chronic cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aspartate aminotransferase and alanine aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, therapeutic response to corticosteroids) in the absence of serum autoantibodies. Clinical manifestations include fatigue, malaise, arthralgia, jaundice, at later stages also signs of advanced chronic liver disease, such as spider nevi, caput medusae, splenomegaly, ascites, and palmar erythema. Presence of concurrent autoimmune diseases is frequently observed.	ICD10CM:K75.4|Orphanet:563589	mondo.json	autoantibody-negative autoimmune hepatitis|Seronegative AIH	http://purl.obolibrary.org/obo/MONDO_0035400	Orphanet:563589	ordo_subtype_of_a_disorder
MONDO:0011472	biolink:Disease	epidermolysis bullosa simplex due to plakophilin deficiency	Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering.	MESH:C536183|OMIM:604536|UMLS:C1858302|GARD:0009705|Orphanet:158668|SCTID:716699004	mondo.json	Mcgrath syndrome|ectodermal dysplasia - skin fragility syndrome|ectodermal dysplasia-skin fragility syndrome|McGrath syndrome|ectodermal dysplasia skin fragility syndrome|ectodermal dysplasia/skin fragility syndrome	http://purl.obolibrary.org/obo/MONDO_0011472	http://identifiers.org/mesh/C536183|https://omim.org/entry/604536|Orphanet:158668|http://identifiers.org/snomedct/716699004|UMLS:C1858302	ordo_disease
MONDO:0011471	biolink:Disease	inflammatory bowel disease 3	An inflammatory bowel disease that has material basis in variation in the chromosome region 6p21.3.	OMIM:604519|UMLS:C1858303|MESH:C565764|DOID:0110891	mondo.json	inflammatory bowel disease type 3|inflammatory bowel disease 3|IBD3	http://purl.obolibrary.org/obo/MONDO_0011471	https://omim.org/entry/604519|http://identifiers.org/mesh/C565764|DOID:0110891|UMLS:C1858303	
MONDO:0035408	biolink:Disease	furuncular myiasis due to Cordylobia rodhaini		Orphanet:563690|ICD10CM:B87.0	mondo.json	furunculoid myiasis due to Cordylobia rodhaini|furunculous myiasis due to Cordylobia rodhaini	http://purl.obolibrary.org/obo/MONDO_0035408	Orphanet:563690	ordo_subtype_of_a_disorder
MONDO:0035407	biolink:Disease	furuncular myiasis due to Cordylobia anthropophaga		ICD10CM:B87.0|Orphanet:563687	mondo.json	furunculous myiasis due to Cordylobia anthropophaga|furunculoid myiasis due to Cordylobia anthropophaga	http://purl.obolibrary.org/obo/MONDO_0035407	Orphanet:563687	ordo_subtype_of_a_disorder
MONDO:0035406	biolink:Disease	furuncular myiasis due to Dermatobia hominis		Orphanet:563684|ICD10CM:B87.0	mondo.json	furunculous myiasis due to Dermatobia hominis|furunculoid myiasis due to Dermatobia hominis	http://purl.obolibrary.org/obo/MONDO_0035406	Orphanet:563684	ordo_subtype_of_a_disorder
HGNC:10418	biolink:NamedThing	RPS28			mondo.json		http://identifiers.org/hgnc/10418		
HP:0000668	biolink:PhenotypicFeature	Hypodontia	The absence of five or less teeth from the normal series by a failure to develop.	SNOMEDCT_US:64969001|MSH:D000848|UMLS:C0020608	mondo.json	Missing between one and six teeth|Failure of development of between one and six teeth	http://purl.obolibrary.org/obo/HP_0000668		hposlim_core
MONDO:0011459	biolink:Disease	arrhythmogenic right ventricular dysplasia 5	Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene.	UMLS:C1858379|OMIM:604400|DOID:0110074|MESH:C565776	mondo.json	arrhythmogenic right ventricular dysplasia, familial, type 5|ARVC5|arrhythmogenic right ventricular dysplasia type 5|TMEM43 arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic right ventricular dysplasia 5|arrhythmogenic right ventricular dysplasia, familial, 5|arrhythmogenic right ventricular cardiomyopathy 5|familial arrhythmogenic right ventricular dysplasia 5|arrhythmogenic right ventricular cardiomyopathy caused by mutation in TMEM43|ARVD5	http://purl.obolibrary.org/obo/MONDO_0011459	UMLS:C1858379|https://omim.org/entry/604400|DOID:0110074|http://identifiers.org/mesh/C565776	
HGNC:10419	biolink:NamedThing	RPS29			mondo.json		http://identifiers.org/hgnc/10419		
CHEBI:64416	biolink:ChemicalSubstance	EC 1.3.1.43 (arogenate dehydrogenase) inhibitor	An EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor, NAD(+) or NADP(+) as acceptor) inhibitor that interferes with the action of arogenate dehydrogenase (EC 1.3.1.43).		mondo.json	EC 1.3.1.43 inhibitor|cyclohexadienyl dehydrogenase inhibitors|L-arogenate:NAD+ oxidoreductase (decarboxylating) inhibitors|TyrA(a) inhibitors|arogenate dehydrogenase inhibitor|arogenate dehydrogenase (EC 1.3.1.43) inhibitors|L-arogenate:NAD+ oxidoreductase inhibitors|L-arogenate:NAD(+) oxidoreductase (decarboxylating) inhibitor|L-arogenate:NAD(+) oxidoreductase (decarboxylating) inhibitors|L-arogenate:NAD+ oxidoreductase inhibitor|arogenate dehydrogenase inhibitors|arogenate dehydrogenase (EC 1.3.1.43) inhibitor|TyrA(a) inhibitor|L-arogenate:NAD+ oxidoreductase (decarboxylating) inhibitor|EC 1.3.1.43 (arogenate dehydrogenase) inhibitors|cyclohexadienyl dehydrogenase inhibitor|EC 1.3.1.43 inhibitors	http://purl.obolibrary.org/obo/CHEBI_64416		
MONDO:0011463	biolink:Disease	polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive	A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.	UMLS:C1858353|OMIM:604431|Orphanet:538096|MESH:C565773	mondo.json	polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0011463	UMLS:C1858353|https://omim.org/entry/604431|Orphanet:538096|http://identifiers.org/mesh/C565773	ordo_disease
MONDO:0011462	biolink:Disease	pyogenic arthritis-pyoderma gangrenosum-acne syndrome	A rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.	GARD:0009176|Orphanet:69126|OMIM:604416|SCTID:724015007|DOID:0080519|UMLS:C1858361|NCIT:C119055|MESH:C536253	mondo.json	Papas|papa|papa syndrome|pyogenic STERILE arthritis, pyoderma gangrenosum, and acne|familial recurrent arthritis|pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne|pyogenic arthritis, pyoderma gangrenosum and acne|fra	http://purl.obolibrary.org/obo/MONDO_0011462	UMLS:C1858361|Orphanet:69126|DOID:0080519|http://identifiers.org/mesh/C536253|https://omim.org/entry/604416|http://identifiers.org/snomedct/724015007|NCIT:C119055	ordo_disease
MONDO:0011465	biolink:Disease	infundibulocystic basal cell carcinoma		DOID:4279|NCIT:C27540|MESH:C537655|UMLS:C1304297|OMIM:604451|GARD:0009788	mondo.json	basal cell carcinoma, infundibulocystic|skin infundibulocystic basal cell carcinoma|basal cell carcinoma with follicular differentiation	http://purl.obolibrary.org/obo/MONDO_0011465	UMLS:C1304297|DOID:4279|http://identifiers.org/mesh/C537655|https://omim.org/entry/604451|NCIT:C27540	gard_rare
MONDO:0011464	biolink:Disease	spinocerebellar ataxia type 11	Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.	UMLS:C4304886|SCTID:719207000|DOID:0050961|Orphanet:98767|GARD:0010475|UMLS:C1858351|MESH:C565772|OMIM:604432	mondo.json	spinocerebellar ataxia type 11|SCA11|spinocerebellar ataxia 11	http://purl.obolibrary.org/obo/MONDO_0011464	http://identifiers.org/snomedct/719207000|UMLS:C1858351|Orphanet:98767|https://omim.org/entry/604432|DOID:0050961|http://identifiers.org/mesh/C565772	ordo_disease
MONDO:0011467	biolink:Disease	obsolete human herpesvirus type 6, integrated		MESH:C565771|OMIM:604474|UMLS:C1858340	mondo.json	human herpesvirus type 6, integrated	http://purl.obolibrary.org/obo/MONDO_0011467	UMLS:C1858340|https://omim.org/entry/604474|http://identifiers.org/mesh/C565771	
MONDO:0011466	biolink:Disease	distal myopathy, Welander type	Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.	Orphanet:603|UMLS:CN205368|OMIM:604454|GARD:0005552	mondo.json	Welander distal myopathy, Swedish type|muscular dystrophy, distal, late-onset, autosomal dominant|WDM|distal myopathy, Swedish type|myopathy, distal, Swedish|Welander distal myopathy	http://purl.obolibrary.org/obo/MONDO_0011466	https://omim.org/entry/604454|Orphanet:603|UMLS:CN205368	ordo_disease
MONDO:0011469	biolink:Disease	congenital amegakaryocytic thrombocytopenia	Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.	GARD:640|SCTID:716336002|DOID:0090118|NCIT:C115207|MESH:C535982|OMIM:604498|GARD:0000640|Orphanet:3319|UMLS:C1327915	mondo.json	thrombocytopenia, congenital amegakaryocytic|thrombocytopenia congenital amegakaryocytic|CAMT|amegakaryocytic thrombocytopenia, congenital|congenital amegakaryocytic thrombocytopenia|congenital amegakaryocytic thrombocytopenic purpura	http://purl.obolibrary.org/obo/MONDO_0011469	Orphanet:3319|http://identifiers.org/snomedct/716336002|https://omim.org/entry/604498|NCIT:C115207|DOID:0090118|UMLS:C1327915|http://identifiers.org/mesh/C535982	gard_rare|ordo_disease
MONDO:0011468	biolink:Disease	hereditary motor and sensory neuropathy, Okinawa type	Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.	Orphanet:90117|OMIM:604484|MESH:C535717|GARD:0010131	mondo.json	hereditary motor and sensory neuropathy, proximal type, formerly|HMSNP|hereditary motor and sensory neuropathy, proximal type|HMSNO|neuropathy, hereditary motor and sensory, Okinawa type	http://purl.obolibrary.org/obo/MONDO_0011468	Orphanet:90117|https://omim.org/entry/604484|http://identifiers.org/mesh/C535717	ordo_disease
HP:0012638	biolink:PhenotypicFeature	Abnormal nervous system physiology	A functional anomaly of the nervous system.	UMLS:C4022811	mondo.json	Abnormality of nervous system physiology	http://purl.obolibrary.org/obo/HP_0012638		
HP:0012639	biolink:PhenotypicFeature	Abnormal nervous system morphology	A structural anomaly of the nervous system.	UMLS:C4022810|Fyler:4300|Fyler:4135	mondo.json	Abnormality of nervous system morphology|Abnormal nervous system morphology|Abnormal shape of nervous system	http://purl.obolibrary.org/obo/HP_0012639		
MONDO:0035411	biolink:Disease	isolated congenital hypoglossia		Orphanet:563954|ICD10CM:Q38.3	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035411	Orphanet:563954	ordo_subtype_of_a_disorder
MONDO:0011461	biolink:Disease	generalized epilepsy with febrile seizures plus, type 2	Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene.	MESH:C565810|UMLS:C1858673|DOID:0111294|OMIM:604403	mondo.json	generalized epilepsy with febrile seizures plus, type 2|febrile seizures, familial caused by mutation in SCN1A|GEFSP2|SCN1A febrile seizures, familial|Gefs+, type 2|febrile seizures, familial, 3A	http://purl.obolibrary.org/obo/MONDO_0011461	UMLS:C1858673|https://omim.org/entry/604403|DOID:0111294|http://identifiers.org/mesh/C565810	
MONDO:0035410	biolink:Disease	isolated congenital aglossia		ICD10CM:Q38.3|Orphanet:563951	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035410	Orphanet:563951	ordo_subtype_of_a_disorder
MONDO:0011460	biolink:Disease	arrhythmogenic right ventricular dysplasia 6	An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12.	DOID:0110075|MESH:C565775|OMIM:604401|UMLS:C1858378	mondo.json	arrhythmogenic right ventricular dysplasia, familial, 6|arrhythmogenic right ventricular cardiomyopathy 6|familial arrhythmogenic right ventricular dysplasia 6|ARVD6|ARVC6|arrhythmogenic right ventricular dysplasia type 6	http://purl.obolibrary.org/obo/MONDO_0011460	UMLS:C1858378|https://omim.org/entry/604401|DOID:0110075|http://identifiers.org/mesh/C565775	
CL:0000525	biolink:Cell	syncytiotrophoblast cell	A cell from the outer syncytial layer of the trophoblast of an early mammalian embryo, directly associated with the maternal blood supply. It secretes hCG in order to maintain progesterone secretion and sustain a pregnancy.	FMA:83043	mondo.json	syntrophoblast|syncytial trophoblast|plasmidotrophoblast	http://purl.obolibrary.org/obo/CL_0000525		
CL:0000526	biolink:Cell	afferent neuron	A neuron which conveys sensory information centrally from the periphery.	FMA:87653	mondo.json	input neuron	http://purl.obolibrary.org/obo/CL_0000526		
CL:0000527	biolink:Cell	efferent neuron	A neuron which sends impulses peripherally to activate muscles or secretory cells.		mondo.json	output neuron	http://purl.obolibrary.org/obo/CL_0000527		
CL:0000529	biolink:Cell	pigmented epithelial cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000529		
HGNC:5542	biolink:NamedThing	IGHMBP2			mondo.json		http://identifiers.org/hgnc/5542		
UBERON:0009678	biolink:AnatomicalEntity	tooth row			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009678		
UBERON:0009679	biolink:AnatomicalEntity	set of lower jaw teeth			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009679		
UBERON:0007010	biolink:AnatomicalEntity	cleaving embryo			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007010		
UBERON:0009670	biolink:AnatomicalEntity	rectal lumen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009670		
UBERON:0009671	biolink:AnatomicalEntity	nasal fin			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009671		
UBERON:0009672	biolink:AnatomicalEntity	oronasal membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009672		
UBERON:0009674	biolink:AnatomicalEntity	accessory XI nerve spinal component			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009674		
UBERON:0009676	biolink:AnatomicalEntity	early telencephalic vesicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009676		
HGNC:5541	biolink:NamedThing	IGHM			mondo.json		http://identifiers.org/hgnc/5541		
NCBITaxon:5758	biolink:OrganismalEntity	Entamoeba		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5758		
NCBITaxon:5759	biolink:OrganismalEntity	Entamoeba histolytica		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5759		
NCBITaxon:5754	biolink:OrganismalEntity	Acanthamoeba		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5754		
NCBITaxon:5752	biolink:OrganismalEntity	Heterolobosea		GC_ID:1	mondo.json	Lobosa	http://purl.obolibrary.org/obo/NCBITaxon_5752		
UBERON:0009668	biolink:AnatomicalEntity	ventral mesentery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009668		
UBERON:0009669	biolink:AnatomicalEntity	embryonic cloacal lumen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009669		
CL:0000530	biolink:Cell	primary neuron			mondo.json		http://purl.obolibrary.org/obo/CL_0000530		
CL:0000531	biolink:Cell	primary sensory neuron			mondo.json		http://purl.obolibrary.org/obo/CL_0000531		
HGNC:10402	biolink:NamedThing	RPS19			mondo.json		http://identifiers.org/hgnc/10402		
NCBITaxon:5761	biolink:OrganismalEntity	Naegleria		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5761		
UBERON:0009661	biolink:AnatomicalEntity	midbrain nucleus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009661		
UBERON:0009662	biolink:AnatomicalEntity	hindbrain nucleus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009662		
CHEBI:39467	biolink:ChemicalSubstance	thiadiazole			mondo.json	thiadiazole	http://purl.obolibrary.org/obo/CHEBI_39467		
UBERON:0009663	biolink:AnatomicalEntity	telencephalic nucleus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009663		
UBERON:0009664	biolink:AnatomicalEntity	gut mesentery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009664		
UBERON:0007005	biolink:AnatomicalEntity	cardiogenic splanchnic mesoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007005		
CL:0000509	biolink:Cell	gastrin secreting cell	A peptide hormone secreting cell that secretes gastrin.		mondo.json		http://purl.obolibrary.org/obo/CL_0000509		
NCBITaxon:5721	biolink:OrganismalEntity	Trichomonas		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5721		
NCBITaxon:5722	biolink:OrganismalEntity	Trichomonas vaginalis		GC_ID:1	mondo.json	Tritrichomonas vaginalis	http://purl.obolibrary.org/obo/NCBITaxon_5722		
CL:0000501	biolink:Cell	granulosa cell	A supporting cell for the developing female gamete in the ovary of mammals. They develop from the coelomic epithelial cells of the gonadal ridge. Granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle. The major functions of granulosa cells include the production of steroids and LH receptors.	CALOHA:TS-0729|FMA:18718|BTO:0000542	mondo.json	granulosa cell of ovary	http://purl.obolibrary.org/obo/CL_0000501		
CL:0000502	biolink:Cell	type D enteroendocrine cell	A cell found throughout the gastrointestinal tract and in the pancreas. They secrete somatostatin in both an endocrine and paracrine manner. Somatostatin inhibits gastrin, cholecystokinin, insulin, glucagon, pancreatic enzymes, and gastric hydrochloric acid. A variety of substances which inhibit gastric acid secretion (vasoactive intestinal peptide, calcitonin gene-related peptide, cholecystokinin, beta-adrenergic agonists, and gastric inhibitory peptide) are thought to act by releasing somatostatin.	FMA:62935	mondo.json	D cell	http://purl.obolibrary.org/obo/CL_0000502		
CL:0000506	biolink:Cell	enkephalin secreting cell	An endorphine cell that secretes enkephalin.		mondo.json		http://purl.obolibrary.org/obo/CL_0000506		
CL:0000507	biolink:Cell	endorphin secreting cell	A peptide hormone secreting cell that secretes endorphin.		mondo.json		http://purl.obolibrary.org/obo/CL_0000507		
CL:0000508	biolink:Cell	type G enteroendocrine cell	An endocrine cell found in the pyloric gland mucosa (antral mucosa) of the stomach of mammals and responsible for the secretion of gastrin and enkephalin. Most abundant in pyloric antrum, pyramidal in form with a narrow apex bearing long microvilli.	FMA:67609|BTO:0004108	mondo.json	G cell	http://purl.obolibrary.org/obo/CL_0000508		
GO:1904222	biolink:NamedThing	positive regulation of serine C-palmitoyltransferase activity	Any process that activates or increases the frequency, rate or extent of serine C-palmitoyltransferase activity.		mondo.json	activation of serine C-palmitoyltransferase activity|up-regulation of serine C-palmitoyltransferase activity|upregulation of 3-oxosphinganine synthetase activity|upregulation of SPT|activation of SPT|up-regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|positive regulation of 3-oxosphinganine synthetase activity|upregulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|upregulation of serine C-palmitoyltransferase activity|up regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|up regulation of 3-oxosphinganine synthetase activity|up-regulation of SPT|positive regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|positive regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|up-regulation of 3-oxosphinganine synthetase activity|activation of 3-oxosphinganine synthetase activity|up regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|up regulation of SPT|up regulation of serine C-palmitoyltransferase activity|upregulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|activation of acyl-CoA:serine C-2 acyltransferase decarboxylating|positive regulation of SPT|activation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|up-regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity	http://purl.obolibrary.org/obo/GO_1904222		
GO:1904221	biolink:NamedThing	negative regulation of serine C-palmitoyltransferase activity	Any process that stops, prevents or reduces the frequency, rate or extent of serine C-palmitoyltransferase activity.		mondo.json	down regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|inhibition of 3-oxosphinganine synthetase activity|negative regulation of 3-oxosphinganine synthetase activity|down-regulation of 3-oxosphinganine synthetase activity|down-regulation of SPT|negative regulation of SPT|down regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|down regulation of serine C-palmitoyltransferase activity|downregulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|inhibition of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|down-regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|down regulation of SPT|inhibition of serine C-palmitoyltransferase activity|negative regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|down-regulation of serine C-palmitoyltransferase activity|downregulation of SPT|inhibition of acyl-CoA:serine C-2 acyltransferase decarboxylating|downregulation of 3-oxosphinganine synthetase activity|down-regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|negative regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|down regulation of 3-oxosphinganine synthetase activity|downregulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|inhibition of SPT|downregulation of serine C-palmitoyltransferase activity	http://purl.obolibrary.org/obo/GO_1904221		
UBERON:0009657	biolink:AnatomicalEntity	artery of lip			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009657		
GO:1904220	biolink:NamedThing	regulation of serine C-palmitoyltransferase activity	Any process that modulates the frequency, rate or extent of serine C-palmitoyltransferase activity.		mondo.json	regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|regulation of serine palmitoyltransferase|regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|regulation of SPT|regulation of 3-oxosphinganine synthetase activity	http://purl.obolibrary.org/obo/GO_1904220		
UBERON:0009651	biolink:AnatomicalEntity	nephron tubule basement membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009651		
UBERON:0009652	biolink:AnatomicalEntity	bronchus basement membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009652		
UBERON:0009653	biolink:AnatomicalEntity	trachea basement membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009653		
UBERON:0009655	biolink:AnatomicalEntity	auricular artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009655		
NCBITaxon:37020	biolink:OrganismalEntity	Oryzomys palustris		GC_ID:1	mondo.json	marsh rice rat	http://purl.obolibrary.org/obo/NCBITaxon_37020		
CL:0000513	biolink:Cell	cardiac muscle myoblast	A precursor cell destined to differentiate into cardiac muscle cell.	FMA:84797	mondo.json	cardiac muscle progenitor cell|cardiomyocyte progenitor cell	http://purl.obolibrary.org/obo/CL_0000513		
CL:0000514	biolink:Cell	smooth muscle myoblast	A precursor cell destined to differentiate into smooth muscle myocytes.	FMA:84798	mondo.json	myoblast, smooth muscle|satellite cell	http://purl.obolibrary.org/obo/CL_0000514		
GO:1904228	biolink:NamedThing	positive regulation of glycogen synthase activity, transferring glucose-1-phosphate	Any process that activates or increases the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate.		mondo.json	upregulation of glycogen synthase activity, transferring glucose-1-phosphate|up regulation of glycogen synthase activity, transferring glucose-1-phosphate|activation of glycogen synthase activity, transferring glucose-1-phosphate|up-regulation of glycogen synthase activity, transferring glucose-1-phosphate	http://purl.obolibrary.org/obo/GO_1904228		
CL:0000515	biolink:Cell	skeletal muscle myoblast	A myoblast that differentiates into skeletal muscle fibers.	FMA:84799	mondo.json	skeletal myoblast	http://purl.obolibrary.org/obo/CL_0000515		
GO:1904227	biolink:NamedThing	negative regulation of glycogen synthase activity, transferring glucose-1-phosphate	Any process that stops, prevents or reduces the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate.		mondo.json	inhibition of glycogen synthase activity, transferring glucose-1-phosphate|down-regulation of glycogen synthase activity, transferring glucose-1-phosphate|downregulation of glycogen synthase activity, transferring glucose-1-phosphate|down regulation of glycogen synthase activity, transferring glucose-1-phosphate	http://purl.obolibrary.org/obo/GO_1904227		
NCBITaxon:2501931	biolink:OrganismalEntity	Orthocoronavirinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2501931		
NCBITaxon:40674	biolink:OrganismalEntity	Mammalia		GC_ID:1	mondo.json	mammals|mammals	http://purl.obolibrary.org/obo/NCBITaxon_40674		
GO:1904226	biolink:NamedThing	regulation of glycogen synthase activity, transferring glucose-1-phosphate	Any process that modulates the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate.		mondo.json		http://purl.obolibrary.org/obo/GO_1904226		
NCBITaxon:5738	biolink:OrganismalEntity	Diplomonadida		GC_ID:1	mondo.json	diplomonads|diplomonads	http://purl.obolibrary.org/obo/NCBITaxon_5738		
NCBITaxon:5739	biolink:OrganismalEntity	Hexamitidae		GC_ID:6	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5739		
CHEBI:39447	biolink:ChemicalSubstance	pyrimidines	Any compound having a pyrimidine as part of its structure.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_39447		
UBERON:0009647	biolink:AnatomicalEntity	tympanic membrane epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009647		
UBERON:0009648	biolink:AnatomicalEntity	eyelid subcutaneous connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009648		
CL:0000511	biolink:Cell	androgen binding protein secreting cell	A peptide hormone secreting cell that secretes androgen binding protein.		mondo.json		http://purl.obolibrary.org/obo/CL_0000511		
NCBITaxon:5740	biolink:OrganismalEntity	Giardia <diplomonads>		GC_ID:1	mondo.json	Giardia	http://purl.obolibrary.org/obo/NCBITaxon_5740		
UBERON:0009640	biolink:AnatomicalEntity	hypophyseal cartilage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009640		
UBERON:0009644	biolink:AnatomicalEntity	trachea non-cartilage connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009644		
MONDO:0011405	biolink:Disease	poikiloderma with neutropenia	A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13.	DOID:0060551|Orphanet:221046|OMIM:604173|GARD:0004085	mondo.json	poikiloderma with neutropenia, Clericuzio-type|poikiloderma with neutropenia, Clericuzio type|Clericuzio type poikiloderma with neutropenia|PN|poikiloderma with neutropenia|poikiloderma with neutropenia Clericuzio type	http://purl.obolibrary.org/obo/MONDO_0011405	https://omim.org/entry/604173|DOID:0060551|Orphanet:221046	ordo_disease
MONDO:0011404	biolink:Disease	Caronte		OMIM:604172	mondo.json	Caronte|Car	http://purl.obolibrary.org/obo/MONDO_0011404	https://omim.org/entry/604172	
NCBITaxon:2946186	biolink:OrganismalEntity	Sedoreoviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2946186		
MONDO:0011407	biolink:Disease	facial paresis, hereditary congenital, 2		UMLS:C1858717|OMIM:604185	mondo.json	Mobius syndrome 3, formerly|Moebius syndrome 3, formerly|Mobius syndrome 3|Moebius syndrome 3|facial paresis, hereditary congenital, 2|HCFP2	http://purl.obolibrary.org/obo/MONDO_0011407	UMLS:C1858717|https://omim.org/entry/604185	
NCBITaxon:2946187	biolink:OrganismalEntity	Spinareoviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2946187		
MONDO:0011406	biolink:Disease	cholesteatoma, congenital		MESH:C562858|SCTID:232262007|OMIM:604183	mondo.json	cholesteatoma, congenital	http://purl.obolibrary.org/obo/MONDO_0011406	https://omim.org/entry/604183|http://identifiers.org/snomedct/232262007|http://identifiers.org/mesh/C562858	
MONDO:0011409	biolink:Disease	hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection		OMIM:604201	mondo.json	Sm2|hepatic fibrosis, Severe, susceptibility to, due to Schistosoma japonicum infection|hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection|hepatic fibrosis susceptibility due to schistosoma mansoni infection	http://purl.obolibrary.org/obo/MONDO_0011409	https://omim.org/entry/604201	predisposition
MONDO:0011408	biolink:Disease	hereditary spastic paraplegia 10	Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.	UMLS:C4518536|GARD:0009590|UMLS:C1858712|SCTID:732948003|DOID:0110763|Orphanet:100991|MESH:C537482|OMIM:604187	mondo.json	hereditary spastic paraplegia type 10|spastic paraplegia 10|KIF5A hereditary spastic paraplegia|autosomal dominant spastic paraplegia 10|autosomal dominant spastic paraplegia|autosomal dominant spastic paraplegia type 10|SPG10|hereditary spastic paraplegia caused by mutation in KIF5A|spastic paraplegia 10 with or without peripheral neuropathy|spastic paraplegia 10, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0011408	Orphanet:100991|UMLS:C1858712|http://identifiers.org/mesh/C537482|https://omim.org/entry/604187|DOID:0110763|http://identifiers.org/snomedct/732948003|UMLS:C4518536	ordo_disease
UBERON:0010698	biolink:AnatomicalEntity	manual digit metacarpus pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010698		
MONDO:0011410	biolink:Disease	Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly		MESH:C565817|OMIM:604211|UMLS:C1858696	mondo.json	Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly	http://purl.obolibrary.org/obo/MONDO_0011410	http://identifiers.org/mesh/C565817|UMLS:C1858696|https://omim.org/entry/604211	
UBERON:0010699	biolink:AnatomicalEntity	manual digit metacarpus cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010699		
MONDO:0011412	biolink:Disease	familial encephalopathy with neuroserpin inclusion bodies		ICD9:348.39|MESH:C536841|SCTID:702421006|UMLS:C1858680|OMIM:604218|Orphanet:85110|DOID:0050831|GARD:0010037	mondo.json	FENIB|encephalopathy, familial, with Collins bodies|encephalopathy, familial, with neuroserpin inclusion bodies	http://purl.obolibrary.org/obo/MONDO_0011412	DOID:0050831|http://identifiers.org/mesh/C536841|UMLS:C1858680|http://identifiers.org/snomedct/702421006|Orphanet:85110|https://omim.org/entry/604218	gard_rare|ordo_disease
MONDO:0011411	biolink:Disease	Chudley-McCullough syndrome		GARD:0000086|OMIM:604213|Orphanet:314597|UMLS:C1858695|MESH:C535459	mondo.json	CMCS|Chudley-McCullough syndrome|deafness, autosomal recessive 82, formerly|deafness, autosomal recessive 82|deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts|deafness, bilateral sensorineural, and hydrocephalus due to foramen of Monro obstruction	http://purl.obolibrary.org/obo/MONDO_0011411	http://identifiers.org/mesh/C535459|Orphanet:314597|UMLS:C1858695|https://omim.org/entry/604213	gard_rare|ordo_malformation_syndrome
MONDO:0011414	biolink:Disease	Peters anomaly	Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.	DOID:0060673|MedDRA:10059202|MESH:C537884|SCTID:204153003|GARD:0007377|ICD9:743.44|OMIM:612968|HP:0000659|OMIM:604229|Orphanet:708	mondo.json	anterior segment dysgenesis 5, multiple subtypes|anterior segment dysgenesis 5|Peters anomaly|Peters congenital glaucoma|Peters anomaly (disease)|ASGD5	http://purl.obolibrary.org/obo/MONDO_0011414	https://omim.org/entry/604229|http://identifiers.org/mesh/C537884|Orphanet:708|DOID:0060673|http://identifiers.org/snomedct/204153003	ordo_morphological_anomaly
MONDO:0011413	biolink:Disease	cataract 9 multiple types	Any cataract (disease) in which the cause of the disease is a mutation in the CRYAA gene.	Orphanet:98995|OMIM:604219|Orphanet:91492|Orphanet:98991|DOID:0110266|UMLS:C1858679|Orphanet:1377	mondo.json	cataract 9, multiple types|cataract 9, multiple types, with or without microcornea|CTRCT9|cataract, autosomal recessive congenital 1|CRYAA cataract (disease)|cataract, autosomal dominant|cataract 9 multiple types with or without microcornea|cataract (disease) caused by mutation in CRYAA|CATC1|autosomal recessive congenital cataract 1	http://purl.obolibrary.org/obo/MONDO_0011413	https://omim.org/entry/604219|DOID:0110266|UMLS:C1858679	
NCBITaxon:5794	biolink:OrganismalEntity	Apicomplexa		GC_ID:1	mondo.json	apicomplexans|apicomplexans	http://purl.obolibrary.org/obo/NCBITaxon_5794		
CHEBI:15440	biolink:ChemicalSubstance	squalene	A triterpene consisting of 2,6,10,15,19,23-hexamethyltetracosane having six double bonds at the 2-, 6-, 10-, 14-, 18- and 22-positions with (all-E)-configuration.		mondo.json	Spinacene|(6E,10E,14E,18E)-2,6,10,15,19,23-hexamethyltetracosa-2,6,10,14,18,22-hexaene|squalene|Squalene|Supraene|(all-E)-2,6,10,15,19,23-hexamethyl-2,6,10,14,18,22-tetracosahexaene	http://purl.obolibrary.org/obo/CHEBI_15440		
NCBITaxon:52651	biolink:OrganismalEntity	Chabertiidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_52651		
NCBITaxon:5799	biolink:OrganismalEntity	Eimeriidae		GC_ID:1	mondo.json	Eimeriids	http://purl.obolibrary.org/obo/NCBITaxon_5799		
NCBITaxon:5796	biolink:OrganismalEntity	Coccidia		GC_ID:1	mondo.json	coccidians	http://purl.obolibrary.org/obo/NCBITaxon_5796		
UBERON:0010693	biolink:AnatomicalEntity	pedal digit 1 epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010693		
UBERON:0010690	biolink:AnatomicalEntity	manual digit 1 epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010690		
HP:0000606	biolink:PhenotypicFeature	Abnormality of the periorbital region	An abnormality of the region situated around the orbit of the eye.	UMLS:C4025837	mondo.json	Anomaly of the periorbital region|Abnormality of the region around the eye socket|Malformation of the periorbital region|Deformity of the periorbital region|Abnormality of the region around the eye	http://purl.obolibrary.org/obo/HP_0000606		
UBERON:0010696	biolink:AnatomicalEntity	skeleton of pedal acropodium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010696		
UBERON:0010697	biolink:AnatomicalEntity	pedal digit metatarsal cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010697		
HP:0000608	biolink:PhenotypicFeature	Macular degeneration	A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.	UMLS:C0024437|SNOMEDCT_US:422338006	mondo.json	Pigmented macular degeneration	http://purl.obolibrary.org/obo/HP_0000608		
UBERON:0010695	biolink:AnatomicalEntity	mesenchyme of tarsal region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010695		
GO:1904255	biolink:NamedThing	negative regulation of iron ion transmembrane transporter activity	Any process that stops, prevents or reduces the frequency, rate or extent of an iron transmembrane transporter activity.		mondo.json	inhibition of iron cation channel activity|negative regulation of iron cation channel activity|down-regulation of iron cation channel activity|inhibition of iron channel activity|downregulation of iron channel activity|downregulation of iron-specific channel activity|downregulation of iron cation channel activity|down-regulation of iron channel activity|negative regulation of iron channel activity|down regulation of iron-specific channel activity|inhibition of iron-specific channel activity|negative regulation of iron-specific channel activity|down regulation of iron cation channel activity|down-regulation of iron-specific channel activity|down regulation of iron channel activity	http://purl.obolibrary.org/obo/GO_1904255		
GO:1904254	biolink:NamedThing	regulation of iron ion transmembrane transporter activity	Any process that modulates the frequency, rate or extent of an iron transmembrane transporter activity.		mondo.json	regulation of iron channel activity|regulation of iron-specific channel activity|regulation of iron cation channel activity	http://purl.obolibrary.org/obo/GO_1904254		
GO:1904253	biolink:NamedThing	positive regulation of bile acid metabolic process	Any process that activates or increases the frequency, rate or extent of bile acid metabolic process.		mondo.json	upregulation of bile acid metabolic process|activation of bile acid metabolism|up-regulation of bile acid metabolism|up-regulation of bile acid metabolic process|upregulation of bile acid metabolism|up regulation of bile acid metabolic process|activation of bile acid metabolic process|positive regulation of bile acid metabolism|up regulation of bile acid metabolism	http://purl.obolibrary.org/obo/GO_1904253		
UBERON:0010687	biolink:AnatomicalEntity	pedal digit metatarsal pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010687		
GO:1904252	biolink:NamedThing	negative regulation of bile acid metabolic process	Any process that stops, prevents or reduces the frequency, rate or extent of bile acid metabolic process.		mondo.json	downregulation of bile acid metabolism|down regulation of bile acid metabolic process|down regulation of bile acid metabolism|downregulation of bile acid metabolic process|inhibition of bile acid metabolism|inhibition of bile acid metabolic process|negative regulation of bile acid metabolism|down-regulation of bile acid metabolism|down-regulation of bile acid metabolic process	http://purl.obolibrary.org/obo/GO_1904252		
UBERON:0010688	biolink:AnatomicalEntity	skeleton of manual acropodium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010688		
MONDO:0011401	biolink:Disease	Alzheimer disease without neurofibrillary tangles		OMIM:611155|MESH:C536599|GARD:0007190|UMLS:C1970143|DOID:0110048|UMLS:C1858751|OMIM:604154|MESH:C566998	mondo.json	Alzheimer's disease 15|Alzheimer's disease type 15|Alzheimer's disease without neurofibrillary tangles|AD15|Alzheimer disease without neurofibrillary tangles|Alzheimer disease-15|Alzheimer disease 15	http://purl.obolibrary.org/obo/MONDO_0011401	https://omim.org/entry/604154|http://identifiers.org/mesh/C536599|DOID:0110048|http://identifiers.org/mesh/C566998|UMLS:C1970143|https://omim.org/entry/611155|UMLS:C1858751	
GO:1904251	biolink:NamedThing	regulation of bile acid metabolic process	Any process that modulates the frequency, rate or extent of bile acid metabolic process.		mondo.json	regulation of bile acid metabolism	http://purl.obolibrary.org/obo/GO_1904251		
MONDO:0011400	biolink:Disease	dilated cardiomyopathy 1G	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene.	UMLS:C1858763|DOID:0110430|OMIM:604145|MESH:C565824	mondo.json	cardiomyopathy, dilated, 1G|CMD1G|familial isolated dilated cardiomyopathy caused by mutation in TTN|dilated cardiomyopathy type 1G|TTN familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, type 1G	http://purl.obolibrary.org/obo/MONDO_0011400	https://omim.org/entry/604145|http://identifiers.org/mesh/C565824|DOID:0110430|UMLS:C1858763	
MONDO:0011403	biolink:Disease	left ventricular noncompaction 1	Any left ventricular noncompaction in which the cause of the disease is a mutation in the DTNA gene.	UMLS:C1858725|OMIM:604169	mondo.json	DTNA left ventricular noncompaction|left ventricular noncompaction 1, with or without congenital heart defects|left ventricular noncompaction 1 with or without congenital heart defects|left ventricular noncompaction type 1|LVNC1|left ventricular noncompaction 1|left ventricular noncompaction caused by mutation in DTNA	http://purl.obolibrary.org/obo/MONDO_0011403	https://omim.org/entry/604169|UMLS:C1858725	
MONDO:0011402	biolink:Disease	congenital cataracts-facial dysmorphism-neuropathy syndrome	Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.	OMIM:604168|SCTID:702433001|UMLS:C1858726|ICD9:759.89|MESH:C565822|Orphanet:48431	mondo.json	congenital cataracts, facial dysmorphism, and neuropathy|congenital cataracts-facial dysmorphism-neuropathy syndrome|CCFDN|cataract, congenital, with Facial Dysmorphism and neuropathy	http://purl.obolibrary.org/obo/MONDO_0011402	http://identifiers.org/snomedct/702433001|https://omim.org/entry/604168|http://identifiers.org/mesh/C565822|Orphanet:48431|UMLS:C1858726	ordo_malformation_syndrome
NCBITaxon:5765	biolink:OrganismalEntity	Vahlkampfiidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5765		
NCBITaxon:5763	biolink:OrganismalEntity	Naegleria fowleri		GC_ID:1	mondo.json	brain-eating amoeba	http://purl.obolibrary.org/obo/NCBITaxon_5763		
UBERON:0010680	biolink:AnatomicalEntity	pedal digit 1 phalanx cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010680		
UBERON:0010685	biolink:AnatomicalEntity	pedal digit phalanx cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010685		
UBERON:0010686	biolink:AnatomicalEntity	manual digit phalanx cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010686		
GO:1904256	biolink:NamedThing	positive regulation of iron ion transmembrane transporter activity	Any process that activates or increases the frequency, rate or extent of an iron transmembrane transporter activity.		mondo.json	upregulation of iron-specific channel activity|upregulation of iron cation channel activity|positive regulation of iron-specific channel activity|up-regulation of iron channel activity|up regulation of iron-specific channel activity|up regulation of iron channel activity|positive regulation of iron cation channel activity|positive regulation of iron transmembrane transporter activity|activation of iron channel activity|up regulation of iron cation channel activity|up-regulation of iron-specific channel activity|positive regulation of iron channel activity|activation of iron-specific channel activity|up-regulation of iron cation channel activity|activation of iron cation channel activity|upregulation of iron channel activity	http://purl.obolibrary.org/obo/GO_1904256		
UBERON:0010684	biolink:AnatomicalEntity	pedal digit 5 phalanx cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010684		
UBERON:0007037	biolink:AnatomicalEntity	mechanosensory system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007037		
UBERON:0010679	biolink:AnatomicalEntity	manual digit 5 phalanx cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010679		
UBERON:0009692	biolink:AnatomicalEntity	lumen of pharyngotympanic tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009692		
UBERON:0009695	biolink:AnatomicalEntity	epithelium of laryngopharynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009695		
UBERON:0009697	biolink:AnatomicalEntity	epithelium of appendix			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009697		
UBERON:0009680	biolink:AnatomicalEntity	set of upper jaw teeth			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009680		
UBERON:0010675	biolink:AnatomicalEntity	manual digit 1 phalanx cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010675		
UBERON:0007026	biolink:AnatomicalEntity	presumptive gut			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007026		
UBERON:0007023	biolink:AnatomicalEntity	adult organism	A multicellular organism that existence_ends_with a post-juvenile adult stage and existence_starts_with a post-juvenile adult stage.		mondo.json	adults	http://purl.obolibrary.org/obo/UBERON_0007023		
UBERON:0007021	biolink:AnatomicalEntity	sexually immature organism			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007021		
UBERON:0009708	biolink:AnatomicalEntity	dorsal pancreas			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009708		
UBERON:0009709	biolink:AnatomicalEntity	ventral pancreas			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009709		
NCBITaxon:573	biolink:OrganismalEntity	Klebsiella pneumoniae		PMID:1581186|GC_ID:11|PMID:11411715	mondo.json	Bacterium pneumoniae crouposae|Klebsiella pneumoniae aerogenes|Bacillus pneumoniae|'Klebsiella aerogenes' (Kruse) Taylor et al. 1956|Hyalococcus pneumoniae	http://purl.obolibrary.org/obo/NCBITaxon_573		
UBERON:0009712	biolink:AnatomicalEntity	endocardium of right ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009712		
UBERON:0009713	biolink:AnatomicalEntity	endocardium of left ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009713		
UBERON:0009715	biolink:AnatomicalEntity	stomodeal lumen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009715		
NCBITaxon:1963758	biolink:OrganismalEntity	Myomorpha		GC_ID:1	mondo.json	Sciurognathi|mice and others	http://purl.obolibrary.org/obo/NCBITaxon_1963758		
NCBITaxon:570	biolink:OrganismalEntity	Klebsiella		GC_ID:11|PMID:10555350|PMID:11411716|PMID:12635932	mondo.json	Hyalococcus|Calymmatobacterium|Donovania	http://purl.obolibrary.org/obo/NCBITaxon_570		
CHEBI:52395	biolink:ChemicalSubstance	oxyketone	A compound with the general formula R2C=O (R=/=H) where one or more of the R groups contains an oxy (-O-) group.		mondo.json	oxyketones	http://purl.obolibrary.org/obo/CHEBI_52395		
CHEBI:52396	biolink:ChemicalSubstance	alpha-oxyketone	An oxyketone with the general formula R2C(=O) (R=/=H) where one or more of the R groups contains an oxy (-O-) group and the oxy and carbonyl groups are bonded to the same carbon atom.		mondo.json	alpha-oxyketones	http://purl.obolibrary.org/obo/CHEBI_52396		
NCBITaxon:86056	biolink:OrganismalEntity	Rhinocladiella mackenziei		GC_ID:1	mondo.json	Ramichloridium mackenziei	http://purl.obolibrary.org/obo/NCBITaxon_86056		
NCBITaxon:229219	biolink:OrganismalEntity	Blastomyces		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_229219		
NCBITaxon:583	biolink:OrganismalEntity	Proteus <enterobacteria>		GC_ID:11|PMID:26944634	mondo.json	Liquidobacterium|Proteus	http://purl.obolibrary.org/obo/NCBITaxon_583		
ENVO:00002186	biolink:NamedThing	contaminated water			mondo.json	polluted water	http://purl.obolibrary.org/obo/ENVO_00002186		
GO:0003411	biolink:NamedThing	cell motility involved in camera-type eye morphogenesis	Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another and contributes to the physical shaping or formation of the camera-type eye.		mondo.json		http://purl.obolibrary.org/obo/GO_0003411		
NCBITaxon:590	biolink:OrganismalEntity	Salmonella		GC_ID:11|PMID:3231714|PMID:10939679|PMID:9731304|PMID:15653930|PMID:10319519|PMID:15653929|PMID:12072558	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_590		
CL:0000586	biolink:Cell	germ cell	The reproductive cell in multicellular organisms.	BTO:0000535|VHOG:0001534|WBbt:0006796	mondo.json		http://purl.obolibrary.org/obo/CL_0000586		
NCBITaxon:2212703	biolink:OrganismalEntity	Mucoromycetes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2212703		
CL:0000593	biolink:Cell	androgen secreting cell	A steroid hormone secreting cell that secretes androgen.		mondo.json		http://purl.obolibrary.org/obo/CL_0000593		
CL:0000595	biolink:Cell	enucleate erythrocyte	An erythrocyte lacking a nucleus.		mondo.json	red blood cell|RBC	http://purl.obolibrary.org/obo/CL_0000595		
NCBITaxon:2887326	biolink:OrganismalEntity	Moraxellales		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2887326		
CL:0000568	biolink:Cell	amine precursor uptake and decarboxylation cell	A cell that originates in the neural crest, that has certain cytochemical and ultrastructural characteristics and is found scattered throughout the body; types include melanocytes, the cells of the chromaffin system, and cells in the hypothalamus, hypophysis, thyroid, parathyroids, lungs, gastrointestinal tract, and pancreas. This cell type concentrates the amino acid precursors of certain amines and decarboxylate them, forming amines that function as regulators and neurotransmitters. This cell type produces substances such as epinephrine, norepinephrine, dopamine, serotonin, enkephalin, somatostatin, neurotensin, and substance P, the actions of which may affect contiguous cells, nearby groups of cells, or distant cells, thus functioning as local or systemic hormones. The name is an acronym for amine precursor uptake and decarboxylation cell.	FMA:83114|BTO:0003866	mondo.json	APUD cell	http://purl.obolibrary.org/obo/CL_0000568		
CL:0000569	biolink:Cell	cardiac mesenchymal cell	A mesenchymal cell found in the developing heart and that develops into some part of the heart.  These cells derive from intra- and extra-cardiac sources, including the endocardium, epicardium, neural crest, and second heart field.		mondo.json		http://purl.obolibrary.org/obo/CL_0000569		
UBERON:0010740	biolink:AnatomicalEntity	bone of appendage girdle complex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010740		
UBERON:0010741	biolink:AnatomicalEntity	bone of pectoral complex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010741		
CL:0000561	biolink:Cell	amacrine cell	Interneuron of the vertebrate retina. They integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer. They lack large axons.	BTO:0004044|FMA:67766	mondo.json	amacrine neuron	http://purl.obolibrary.org/obo/CL_0000561		
CL:0000562	biolink:Cell	nucleate erythrocyte	An erythrocyte having a nucleus.		mondo.json	red blood cell|RBC	http://purl.obolibrary.org/obo/CL_0000562		
UBERON:0009758	biolink:AnatomicalEntity	abdominal ganglion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009758		
CL:0000566	biolink:Cell	angioblastic mesenchymal cell	A mesenchymal stem cell capable of developing into blood vessel endothelium.		mondo.json	chondroplast|angioblast	http://purl.obolibrary.org/obo/CL_0000566		
UBERON:0009751	biolink:AnatomicalEntity	cardiac mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009751		
UBERON:0009752	biolink:AnatomicalEntity	pancreas mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009752		
MONDO:0060489	biolink:Disease	46,XX sex reversal 4		OMIM:617480|DOID:0111764	mondo.json	SRXX4|46,XX Sex reversal, Sry-Negative|46,XX SEX reversal 4|46, XX sex reversal 4	http://purl.obolibrary.org/obo/MONDO_0060489	https://omim.org/entry/617480|DOID:0111764	
MONDO:0060486	biolink:Disease	arthrogryposis multiplex congenita 1, neurogenic, with myelin defect		OMIM:617468	mondo.json	AMCNMY|arthrogryposis multiplex congenita, neurogenic, with myelin defect	http://purl.obolibrary.org/obo/MONDO_0060486	https://omim.org/entry/617468	
MONDO:0060496	biolink:Disease	neurodevelopmental disorder with hypotonia, neuropathy, and deafness		UMLS:C4479603|OMIM:617519	mondo.json	NEDHND|neurodevelopmental disorder with hypotonia, neuropathy, and deafness|myopathy, Congenital, with neuropathy and Deafness	http://purl.obolibrary.org/obo/MONDO_0060496	UMLS:C4479603|https://omim.org/entry/617519	
CL:0000570	biolink:Cell	parafollicular cell	A neuroepithelial cells that occurs singly or in small groups, close to the outer follicular borders but within the follicular basement membrane of the thyroid. Expresses a form of the neural cell adhesion molecule (N-CAM) on their surface. Secretes calcitonin, 5-hydroxytryptamine and dopamine.	SCTID:176770005|FMA:68653	mondo.json	C cell|parafollicular cell of thyroid gland|C cell of thyroid gland|thyroid parafollicular cell|clear cell of thyroid gland	http://purl.obolibrary.org/obo/CL_0000570		
UBERON:0009744	biolink:AnatomicalEntity	lymph node medullary sinus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009744		
UBERON:0009745	biolink:AnatomicalEntity	lymph node medullary cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009745		
UBERON:0010720	biolink:AnatomicalEntity	hindlimb zeugopod skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010720		
CL:0000573	biolink:Cell	retinal cone cell	One of the two photoreceptor cell types in the vertebrate retina. In cones the photopigment is in invaginations of the cell membrane of the outer segment. Cones are less sensitive to light than rods, but they provide vision with higher spatial and temporal acuity, and the combination of signals from cones with different pigments allows color vision.	FMA:67748|CALOHA:TS-0866|BTO:0001036	mondo.json		http://purl.obolibrary.org/obo/CL_0000573		
MONDO:0060491	biolink:Disease	neurodevelopmental disorder with involuntary movements		OMIM:617493	mondo.json	NEDIM|neurodevelopmental disorder with involuntary movements	http://purl.obolibrary.org/obo/MONDO_0060491	https://omim.org/entry/617493	
CL:0000575	biolink:Cell	corneal epithelial cell	An epithelial cell of the cornea.	BTO:0004298|CALOHA:TS-0173|FMA:70551	mondo.json	epithelial cell of cornea	http://purl.obolibrary.org/obo/CL_0000575		
UBERON:0009749	biolink:AnatomicalEntity	limb mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009749		
MONDO:0060490	biolink:Disease	neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum.	Orphanet:544469|OMIM:617481|UMLS:C4479566	mondo.json	NMIHBA|neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	http://purl.obolibrary.org/obo/MONDO_0060490	Orphanet:544469|UMLS:C4479566|https://omim.org/entry/617481	ordo_disorder
CL:0000576	biolink:Cell	monocyte	Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.	BTO:0000876|FMA:62864|CALOHA:TS-0638	mondo.json		http://purl.obolibrary.org/obo/CL_0000576		
UBERON:0010728	biolink:AnatomicalEntity	sphenoid lesser wing pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010728		
UBERON:0009742	biolink:AnatomicalEntity	proamniotic cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009742		
CHR:9606-chr1p32-p31	biolink:NamedThing	1p32-p31 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr1p32-p31		
CL:0000547	biolink:Cell	proerythroblast	An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers.	FMA:83518	mondo.json	rubriblast|pronormoblast	http://purl.obolibrary.org/obo/CL_0000547		
CL:0000548	biolink:Cell	animal cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000548		_upper_level
CL:0000549	biolink:Cell	basophilic erythroblast	A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers.	FMA:83505	mondo.json	early erythroblast|basophilic normoblast|early normoblast|prorubricyte	http://purl.obolibrary.org/obo/CL_0000549		
UBERON:0010712	biolink:AnatomicalEntity	limb skeleton subdivision			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010712		
CL:0000540	biolink:Cell	neuron	The basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system.	BTO:0000938|CALOHA:TS-0683|FBbt:00005106|VHOG:0001483|FMA:54527|WBbt:0003679	mondo.json	nerve cell	http://purl.obolibrary.org/obo/CL_0000540		
CL:0000541	biolink:Cell	melanoblast	A cell that originates from the neural crest and differentiates into a pigment cell.	BTO:0003217|FMA:83377	mondo.json		http://purl.obolibrary.org/obo/CL_0000541		
CL:0000542	biolink:Cell	lymphocyte	A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin.	CALOHA:TS-0583|FMA:62863|BTO:0000775|VHOG:0001535	mondo.json		http://purl.obolibrary.org/obo/CL_0000542		
UBERON:0010714	biolink:AnatomicalEntity	iliac cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010714		
UBERON:0010719	biolink:AnatomicalEntity	girdle skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010719		
UBERON:0010718	biolink:AnatomicalEntity	pubic cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010718		
NCBITaxon:3193	biolink:OrganismalEntity	Embryophyta		GC_ID:1	mondo.json	land plants|land plants|higher plants|plants	http://purl.obolibrary.org/obo/NCBITaxon_3193		
ENVO:00002149	biolink:NamedThing	sea water	Water which has physicochemical properties that have been determined by the processes occuring in a sea or ocean.		mondo.json	ocean water|seawater	http://purl.obolibrary.org/obo/ENVO_00002149		
CL:0000556	biolink:Cell	megakaryocyte	A giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm.	CALOHA:TS-0611|FMA:83555|BTO:0000843	mondo.json	megalokaryocyte|megacaryocyte|megalocaryocyte	http://purl.obolibrary.org/obo/CL_0000556		
CL:0000557	biolink:Cell	granulocyte monocyte progenitor cell	A hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages. These cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1.		mondo.json	CFU-GM|granulocyte-macrophage progenitor|granulocyte/monocyte progenitor|GMP|granulocyte/monocyte precursor|colony forming unit granulocyte macrophage|CFU-C , Colony forming unit in culture	http://purl.obolibrary.org/obo/CL_0000557		
CL:0000558	biolink:Cell	reticulocyte	An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds.	CALOHA:TS-0864|BTO:0001173	mondo.json		http://purl.obolibrary.org/obo/CL_0000558		
CL:0000559	biolink:Cell	promonocyte	A precursor in the monocytic series, being a cell intermediate in development between the monoblast and monocyte. This cell is CD11b-positive and has fine azurophil granules.	FMA:83551|BTO:0004657	mondo.json		http://purl.obolibrary.org/obo/CL_0000559		
UBERON:0009722	biolink:AnatomicalEntity	entire pharyngeal arch endoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009722		
UBERON:0010700	biolink:AnatomicalEntity	phalanx pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010700		
UBERON:0010701	biolink:AnatomicalEntity	phalanx cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010701		
CL:0000550	biolink:Cell	polychromatophilic erythroblast	A nucleated, immature erythrocyte in which the nucleus occupies a relatively smaller part of the cell than in its precursor, the basophilic erythroblast. The cytoplasm is beginning to acquire hemoglobin and thus is no longer a purely basophilic, but takes on acidophilic aspects, which becomes progressively more marked as the cell matures. The chromatin of the nucleus is arranged in coarse, deeply staining clumps. This cell is CD71-positive and lacks hematopoeitic lineage markers.	FMA:83506	mondo.json	polychromatophilic normoblast|intermediate erythroblast|polychromatic erythroblast|rubricyte|intermediate normoblast|polychromatic normoblast	http://purl.obolibrary.org/obo/CL_0000550		
CL:0000552	biolink:Cell	orthochromatic erythroblast	The final stage of the nucleated, immature erythrocyte, before nuclear loss. Typically the cytoplasm is described as acidophilic, but it still shows a faint polychromatic tint. The nucleus is small and initially may still have coarse, clumped chromatin, as in its precursor, the polychromatophilic erythroblast, but ultimately it becomes pyknotic, and appears as a deeply staining, blue-black, homogeneous structureless mass. The nucleus is often eccentric and sometimes lobulated.	FMA:84646	mondo.json	eosinophilic erythroblast|orthochromatic normoblast|acidophilic erythroblast|late erythoblast|pyknotic eto enrythroblast	http://purl.obolibrary.org/obo/CL_0000552		
CL:0000553	biolink:Cell	megakaryocyte progenitor cell	The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative).	CALOHA:TS-0610|BTO:0001164|FMA:84235	mondo.json	promegakaryocyte|CFU-Meg|megakaryocytic progenitor cell|colony-forming unit-megakaryocyte|MkP|megacaryocyte progenitor cell|megacaryoblast|promegacaryocyte|Meg-CFC|megakaryoblast	http://purl.obolibrary.org/obo/CL_0000553		
UBERON:0010702	biolink:AnatomicalEntity	digit mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010702		
CL:0000555	biolink:Cell	neuronal brush cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000555		
UBERON:0010703	biolink:AnatomicalEntity	forelimb zeugopod skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010703		
UBERON:0010708	biolink:AnatomicalEntity	pectoral complex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010708		
UBERON:0010709	biolink:AnatomicalEntity	pelvic complex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010709		
UBERON:0010707	biolink:AnatomicalEntity	appendage girdle complex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010707		
MONDO:0060457	biolink:Disease	autoinflammation with arthritis and dyskeratosis		OMIM:617388	mondo.json	AUTOINFLAMMATION with arthritis and dyskeratosis|AIADK	http://purl.obolibrary.org/obo/MONDO_0060457	https://omim.org/entry/617388	
MONDO:0060456	biolink:Disease	cerebral sclerosis, diffuse, scholz type		MESH:C564449|OMIM:302700	mondo.json	cerebral sclerosis, diffuse, scholz type	http://purl.obolibrary.org/obo/MONDO_0060456	http://identifiers.org/mesh/C564449|https://omim.org/entry/302700	
MONDO:0060455	biolink:Disease	X-linked congenital hemolytic anemia		OMIM:301015	mondo.json	hemolytic anemia, congenital, X-linked|hemolytic anemia, congenital, X-linked, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0060455	https://omim.org/entry/301015	
HP:0000593	biolink:PhenotypicFeature	Abnormal anterior chamber morphology	Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.	SNOMEDCT_US:204142009|UMLS:C3152182	mondo.json	Ocular anterior chamber abnormality|Anterior chamber anomalies|Abnormality of the anterior chamber	http://purl.obolibrary.org/obo/HP_0000593		hposlim_core
HP:0000598	biolink:PhenotypicFeature	Abnormality of the ear	An abnormality of the ear.	UMLS:C0266589|SNOMEDCT_US:275259005	mondo.json	Abnormality of the ear|Ear anomaly	http://purl.obolibrary.org/obo/HP_0000598		hposlim_core
ENVO:01000155	biolink:NamedThing	organic material	Environmental material derived from living organisms and composed primarily of one or more biomacromolecules.		mondo.json	biomass	http://purl.obolibrary.org/obo/ENVO_01000155		
NCBITaxon:506	biolink:OrganismalEntity	Alcaligenaceae		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_506		
HP:0012575	biolink:PhenotypicFeature	Abnormal nephron morphology	A structural anomaly of the nephron.	UMLS:C4022838	mondo.json	Abnormality of the nephron	http://purl.obolibrary.org/obo/HP_0012575		
NCIT:C25444	biolink:NamedThing	Body Cavity			mondo.json		http://purl.obolibrary.org/obo/NCIT_C25444		http://purl.obolibrary.org/obo/NCIT_C77526|http://purl.obolibrary.org/obo/NCIT_C77529|http://purl.obolibrary.org/obo/NCIT_C61410
NCBITaxon:517	biolink:OrganismalEntity	Bordetella		GC_ID:11|PMID:11491321	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_517		
ENVO:01000179	biolink:NamedThing	desert biome	A desert biome is a terrestrial biome which loses more liquid water by evapotranspiration than is supplied by precipitation and includes communities adapted to these conditions.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000179		
NCBITaxon:519	biolink:OrganismalEntity	Bordetella parapertussis		GC_ID:11|PMID:8240949|PMID:8782670	mondo.json	Bacillus parapertussis|Haemophilus parapertussis|Acinetobacter parapertussis	http://purl.obolibrary.org/obo/NCBITaxon_519		
HP:0000572	biolink:PhenotypicFeature	Visual loss	Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).	SNOMEDCT_US:7973008|UMLS:C3665386	mondo.json	Vision loss|Loss of vision|Visual loss	http://purl.obolibrary.org/obo/HP_0000572		
ENVO:01000176	biolink:NamedThing	shrubland biome	A shrubland biome is a terrestrial biome which includes, across its entire spatial extent, dense groups of shrubs.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000176		
ENVO:00002114	biolink:NamedThing	chemically enriched sediment	Sediment which has increased levels of one or more chemical compounds.		mondo.json		http://purl.obolibrary.org/obo/ENVO_00002114		
NCBITaxon:520	biolink:OrganismalEntity	Bordetella pertussis		PMID:8240949|GC_ID:11	mondo.json	Microbe de la coqueluche|Bacterium tussis-convulsivae|Hemophilus pertussis|Haemophilus pertussis	http://purl.obolibrary.org/obo/NCBITaxon_520		
MONDO:0023483	biolink:Disease	infectious myositis	An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain.	SCTID:29689003|ICD9:728.0|GARD:0009131|NCIT:C26984	mondo.json	infective myositis|infectious myositis	http://purl.obolibrary.org/obo/MONDO_0023483	NCIT:C26984|http://identifiers.org/snomedct/29689003	gard_rare
HP:0000587	biolink:PhenotypicFeature	Abnormality of the optic nerve	Abnormality of the optic nerve.	UMLS:C0029131	mondo.json	optic nerve abnormalities|Optic nerve issue	http://purl.obolibrary.org/obo/HP_0000587		hposlim_core
MONDO:0035461	biolink:Disease	obsolete systemic disease with glomerulopathy as a major feature		Orphanet:567554	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035461	Orphanet:567554	
MONDO:0035460	biolink:Disease	idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy		Orphanet:567552|ICD10CM:N04.8	mondo.json	idiopathic steroid-resistant nephrotic syndrome with sensitivity to intensified immunosuppression	http://purl.obolibrary.org/obo/MONDO_0035460	Orphanet:567552	ordo_subtype_of_a_disorder
MONDO:0035469	biolink:Disease	obsolete primary lymphedema without systemic or visceral involvement		Orphanet:568041	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035469	Orphanet:568041	
MONDO:0035466	biolink:Disease	obsolete nephrotic syndrome without extrarenal manifestations		Orphanet:567564	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035466	Orphanet:567564	
NCBITaxon:39700	biolink:OrganismalEntity	Trypanozoon		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_39700		
NCBITaxon:543	biolink:OrganismalEntity	Enterobacteriaceae		PMID:16166704|PMID:10555334|PMID:10555323|PMID:27620848|GC_ID:11	mondo.json	Enterobacteraceae|gamma-3 proteobacteria|enterobacteria	http://purl.obolibrary.org/obo/NCBITaxon_543		
MONDO:0035474	biolink:Disease	PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis	A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent.	Orphanet:568062	mondo.json	PIEZO1-related LRHF/GLD|generalized lymphatic dysplasia of Fotiou|PIEZO1-related lymphatic-related hydrops fetalis|PIEZO1-related generalized lymphatic dysplasia with systemic involvement	http://purl.obolibrary.org/obo/MONDO_0035474	Orphanet:568062	ordo_disorder
MONDO:0035473	biolink:Disease	warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome	A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported.	Orphanet:568056	mondo.json	WILD syndrome|disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0035473	Orphanet:568056	ordo_disorder
MONDO:0035472	biolink:Disease	GJC2-related late-onset primary lymphedema	A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.	Orphanet:568051	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035472	Orphanet:568051	ordo_disorder
MONDO:0035471	biolink:Disease	obsolete disorder with multisystemic involvement and primary lymphedema		Orphanet:568047	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035471	Orphanet:568047	
MONDO:0035470	biolink:Disease	obsolete primary lymphedema with systemic or visceral involvement		Orphanet:568044	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035470	Orphanet:568044	
MONDO:0035475	biolink:Disease	EPHB4-related lymphatic-related hydrops fetalis	A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients.	Orphanet:568065	mondo.json	EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis|EPHB4-related LRHF/GLD|EPHB4-related generalized lymphatic dysplasia with atrial septal defect	http://purl.obolibrary.org/obo/MONDO_0035475	Orphanet:568065	ordo_disorder
CHR:9606-chr1q44	biolink:NamedThing	1q44 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr1q44		
NCBITaxon:562	biolink:OrganismalEntity	Escherichia coli		GC_ID:11|PMID:10319482	mondo.json	E. coli|Enterococcus coli|Escherichia/Shigella coli|Bacillus coli|Bacterium coli|Bacterium coli commune	http://purl.obolibrary.org/obo/NCBITaxon_562		
HP:0012591	biolink:PhenotypicFeature	Abnormal urinary electrolyte concentration	An abnormality in the concentration of electrolytes in the urine.	UMLS:C4022833	mondo.json	Urinary electrolyte imbalance	http://purl.obolibrary.org/obo/HP_0012591		
NCBITaxon:561	biolink:OrganismalEntity	Escherichia		GC_ID:11|PMID:19700542	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_561		
MONDO:0035499	biolink:Disease	CELSR1-related late-onset primary lymphedema	A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux.	Orphanet:569816	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035499	Orphanet:569816	ordo_disorder
MONDO:0023310	biolink:Disease	obsolete hemiplegic migraine			mondo.json		http://purl.obolibrary.org/obo/MONDO_0023310		
UBERON:0019198	biolink:AnatomicalEntity	dorsal nerve of clitoris			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019198		
UBERON:0019196	biolink:AnatomicalEntity	iliac artery endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019196		
MONDO:0011328	biolink:Disease	obsolete autosomal dominant limb-girdle muscular dystrophy type 1E			mondo.json		http://purl.obolibrary.org/obo/MONDO_0011328		
MONDO:0011327	biolink:Disease	neuronal intranuclear inclusion disease	Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss.	OMIM:603472|NCIT:C122655|MESH:C537395|UMLS:C1863843|SCTID:715437003|Orphanet:2289|GARD:0003971	mondo.json	neuronal intranuclear inclusion disease|Niid|neuronal intranuclear hyaline inclusion disease	http://purl.obolibrary.org/obo/MONDO_0011327	Orphanet:2289|UMLS:C1863843|NCIT:C122655|http://identifiers.org/mesh/C537395|http://identifiers.org/snomedct/715437003|https://omim.org/entry/603472	ordo_disease|gard_rare
MONDO:0013989	biolink:Disease	developmental and epileptic encephalopathy, 14	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene.	DOID:0080439|OMIM:614959|UMLS:C3554195	mondo.json	early infantile epileptic encephalopathy caused by mutation in KCNT1|KCNT1 early infantile epileptic encephalopathy|developmental and epileptic encephalopathy 14|epileptic encephalopathy, early infantile, 14|epileptic encephalopathy, early infantile, type 14|EIEE14|DEE14	http://purl.obolibrary.org/obo/MONDO_0013989	https://omim.org/entry/614959|DOID:0080439|UMLS:C3554195	
MONDO:0011329	biolink:Disease	obsolete cerebral palsy, spastic quadriplegic, 1			mondo.json		http://purl.obolibrary.org/obo/MONDO_0011329		
HP:0000759	biolink:PhenotypicFeature	Abnormal peripheral nervous system morphology	A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system).	SNOMEDCT_US:42658009|MSH:D010523|UMLS:C0031117|UMLS:C4025831|SNOMEDCT_US:302226006	mondo.json	Abnormal peripheral nervous system structure|Peripheral nervous system disease	http://purl.obolibrary.org/obo/HP_0000759		
MONDO:0011331	biolink:Disease	congenital chylothorax	Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations.	OMIM:603523|DOID:0060646|GARD:0010156|SCTID:233646003|UMLS:C0340014|ICD9:511.89|Orphanet:264688|MESH:C535461	mondo.json	chylothorax, congenital|hydrothorax, congenital	http://purl.obolibrary.org/obo/MONDO_0011331	http://identifiers.org/snomedct/233646003|http://identifiers.org/mesh/C535461|https://omim.org/entry/603523|UMLS:C0340014|DOID:0060646|Orphanet:264688	gard_rare|ordo_disease
MONDO:0013994	biolink:Disease	Joubert syndrome 20	Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene.	UMLS:C3554235|OMIM:614970|DOID:0110989	mondo.json	Joubert syndrome caused by mutation in TMEM231|Joubert syndrome 20|Joubert syndrome type 20|JBTS20|TMEM231 Joubert syndrome	http://purl.obolibrary.org/obo/MONDO_0013994	UMLS:C3554235|DOID:0110989|https://omim.org/entry/614970	
GO:1904167	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_1904167		
HGNC:10597	biolink:NamedThing	SCN9A			mondo.json		http://identifiers.org/hgnc/10597		
MONDO:0013995	biolink:Disease	cholestasis, intrahepatic, of pregnancy, 3		DOID:0070229|EFO:0009150|OMIM:614972|UMLS:C3554241	mondo.json	ICP3|cholestasis, intrahepatic, of pregnancy type 3|cholestasis, intrahepatic, of pregnancy 3	http://purl.obolibrary.org/obo/MONDO_0013995	UMLS:C3554241|https://omim.org/entry/614972|DOID:0070229	
MONDO:0011330	biolink:Disease	spinocerebellar ataxia type 10	Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.	UMLS:C1963674|OMIM:603516|Orphanet:98761|MESH:C566874|DOID:0050960|GARD:0010474|SCTID:715754007|UMLS:C4275023	mondo.json	SCA10|spinocerebellar ataxia 10|spinocerebellar ataxia type 10	http://purl.obolibrary.org/obo/MONDO_0011330	Orphanet:98761|http://identifiers.org/mesh/C566874|UMLS:C1963674|http://identifiers.org/snomedct/715754007|DOID:0050960|https://omim.org/entry/603516	ordo_disease
HP:0000750	biolink:PhenotypicFeature	Delayed speech and language development	A degree of language development that is significantly below the norm for a child of a specified age.	UMLS:C0233715|UMLS:C0454644|UMLS:C0241210|UMLS:C0023012|SNOMEDCT_US:29164008|SNOMEDCT_US:229721007|SNOMEDCT_US:62415009|SNOMEDCT_US:162294008|MSH:D007805	mondo.json	Delayed speech and language development|Delayed speech|Delayed speech development|Language delay|Language delayed|Speech and language difficulties|Impaired speech and language development|Speech delay|Poor speech acquisition|Speech difficulties|Poor speech development|Speech and language delay|Delayed language development|Late-onset speech development|Poor language development|Impaired speech development|Deficiency of speech development|Delayed speech acquisition|Language development deficit	http://purl.obolibrary.org/obo/HP_0000750		
MONDO:0013992	biolink:Disease	obesity due to leptin receptor gene deficiency		NCIT:C120386|Orphanet:179494|OMIM:614963|UMLS:C3554225	mondo.json	obesity, morbid, due to leptin receptor deficiency|obesity, morbid, nonsyndromic 2|obesity due to leptin receptor gene deficiency|leptin receptor deficiency	http://purl.obolibrary.org/obo/MONDO_0013992	NCIT:C120386|UMLS:C3554225|https://omim.org/entry/614963|Orphanet:179494	ordo_disease
MONDO:0011333	biolink:Disease	light fixation seizure syndrome		UMLS:C1863767|MESH:C566367|OMIM:603530	mondo.json	Lfss|light fixation seizure syndrome|M syndrome	http://purl.obolibrary.org/obo/MONDO_0011333	UMLS:C1863767|http://identifiers.org/mesh/C566367|https://omim.org/entry/603530	
MONDO:0013993	biolink:Disease	pontocerebellar hypoplasia type 7	Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.	OMIM:614969|Orphanet:284339|DOID:0060276|SCTID:718605009|UMLS:C3554226	mondo.json	pontocerebellar hypoplasia, type 7|PCH7|pontocerebellar hypoplasia-46,XY disorder of sex development syndrome|TOE1 non-syndromic pontocerebellar hypoplasia|non-syndromic pontocerebellar hypoplasia caused by mutation in TOE1	http://purl.obolibrary.org/obo/MONDO_0013993	Orphanet:284339|UMLS:C3554226|DOID:0060276|http://identifiers.org/snomedct/718605009|https://omim.org/entry/614969	ordo_malformation_syndrome
MONDO:0011332	biolink:Disease	Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin		OMIM:603529|UMLS:C3807235	mondo.json	Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin	http://purl.obolibrary.org/obo/MONDO_0011332	https://omim.org/entry/603529|UMLS:C3807235	
HGNC:10596	biolink:NamedThing	SCN8A			mondo.json		http://identifiers.org/hgnc/10596		
MONDO:0011335	biolink:Disease	spondyloepimetaphyseal dysplasia with multiple dislocations	A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity.	OMIM:603546|UMLS:C1863732|SCTID:766820007|DOID:0112199|Orphanet:93360|MESH:C535784|GARD:0009866|NCIT:C125419	mondo.json	spondyloepimetaphyseal dysplasia with Joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with Joint laxity, Hall type|spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type|spondyloepimetaphyseal dysplasia with Joint laxity, type 2|spondyloepimetaphyseal dysplasia with JOINT laxity, type 2|spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with joint laxity type 2|SEMDJL2|SEMD-MD|spondyloepimetaphyseal dysplasia with multiple dislocations Hall type|spondyloepimetaphyseal dysplasia with joint laxicity, Hall type|spondyloepimetaphyseal dysplasia with JOINT laxity type 2|spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type	http://purl.obolibrary.org/obo/MONDO_0011335	http://identifiers.org/snomedct/766820007|Orphanet:93360|UMLS:C1863732|DOID:0112199|https://omim.org/entry/603546|http://identifiers.org/mesh/C535784|NCIT:C125419	gard_rare|ordo_disease
MONDO:0013998	biolink:Disease	MEGF8-related Carpenter syndrome	Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene.	OMIM:614976|UMLS:C3554247	mondo.json	CRPT2|Carpenter syndrome type 2|MEGF8 Carpenter syndrome|Carpenter syndrome caused by mutation in MEGF8|Carpenter syndrome 2|CARPENTER syndrome 2	http://purl.obolibrary.org/obo/MONDO_0013998	UMLS:C3554247|https://omim.org/entry/614976	
HP:0000752	biolink:PhenotypicFeature	Hyperactivity	Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate.	UMLS:C0424295|SNOMEDCT_US:44548000|MSH:D006948	mondo.json	Hyperactive behaviour|Hyperactive behavior|More active than typical	http://purl.obolibrary.org/obo/HP_0000752		
MONDO:0013999	biolink:Disease	optic nerve edema-splenomegaly syndrome	Optic nerve edema-splenomegaly syndrome is a rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.	UMLS:C3554278|Orphanet:313800|OMIM:614979	mondo.json	ROSAH syndrome|splenomegaly, cytopenia, and vision loss	http://purl.obolibrary.org/obo/MONDO_0013999	https://omim.org/entry/614979|UMLS:C3554278|Orphanet:313800	ordo_disease
MONDO:0011334	biolink:Disease	limb-mammary syndrome	Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.	MESH:C535903|SCTID:721972001|Orphanet:69085|OMIM:603543|GARD:0010051	mondo.json	mammary hypoplasia, ectrodactyly, and other hand/foot anomalies|LMS|limb-mammary syndrome	http://purl.obolibrary.org/obo/MONDO_0011334	http://identifiers.org/snomedct/721972001|Orphanet:69085|https://omim.org/entry/603543|http://identifiers.org/mesh/C535903	ordo_malformation_syndrome
MONDO:0011337	biolink:Disease	familial hemophagocytic lymphohistiocytosis 2	Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene.	MESH:C537250|OMIM:603553|DOID:0110922|GARD:0009922|Orphanet:540	mondo.json	hemophagocytic lymphohistiocytosis, familial, type 2|PRF1 genetic hemophagocytic lymphohistiocytosis|Hplh2|Hlh2|familial hemophagocytic lymphohistiocytosis type 2|hemophagocytic lymphohistiocytosis, familial, 2|HLH2|HPLH2|genetic hemophagocytic lymphohistiocytosis caused by mutation in PRF1|FHL2	http://purl.obolibrary.org/obo/MONDO_0011337	http://identifiers.org/mesh/C537250|https://omim.org/entry/603553|DOID:0110922	gard_rare
MONDO:0013996	biolink:Disease	focal facial dermal dysplasia type II	Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities.	Orphanet:398173|OMIM:614973|UMLS:C3554245	mondo.json	focal facial dermal dysplasia 2, Brauer-Setleis type|Brauer-Setleis syndrome|FFDD2|FFDD type II	http://purl.obolibrary.org/obo/MONDO_0013996	Orphanet:398173|UMLS:C3554245|https://omim.org/entry/614973	ordo_clinical_subtype
HGNC:10599	biolink:NamedThing	SCNN1A			mondo.json		http://identifiers.org/hgnc/10599		
MONDO:0011336	biolink:Disease	familial hemophagocytic lymphohistiocytosis 4	Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene.	MESH:C537252|GARD:0009929|OMIM:603552|DOID:0110924|Orphanet:540	mondo.json	genetic hemophagocytic lymphohistiocytosis caused by mutation in STX11|familial hemophagocytic lymphohistiocytosis 4|familial hemophagocytic lymphohistiocytosis type 4|HLH4|HPLH4|hemophagocytic lymphohistiocytosis, familial, 4|STX11 genetic hemophagocytic lymphohistiocytosis|FHL4|hemophagocytic lymphohistiocytosis, familial, type 4|Hlh4|Hplh4	http://purl.obolibrary.org/obo/MONDO_0011336	http://identifiers.org/mesh/C537252|https://omim.org/entry/603552|DOID:0110924	gard_rare
MONDO:0013997	biolink:Disease	focal facial dermal dysplasia type IV	Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.	OMIM:614974|UMLS:C3554246|Orphanet:398189	mondo.json	FFDD type IV|focal facial dermal dysplasia 4|FFDD4|focal Facial dermal dysplasia type 4|focal facial preauricular dysplasia	http://purl.obolibrary.org/obo/MONDO_0013997	Orphanet:398189|UMLS:C3554246|https://omim.org/entry/614974	ordo_clinical_subtype
MONDO:0001999	biolink:Disease	primary pulmonary hypertension	Increased blood pressure in the arteries of the lungs; the etiology is unknown.	DOID:14557|ICD9:416.0|ICD10CM:I27.0	mondo.json	pulmonary hypertension, primary|primary pulmonary hypertension	http://purl.obolibrary.org/obo/MONDO_0001999	http://purl.bioontology.org/ontology/ICD10CM/I27.0|DOID:14557	
MONDO:0013990	biolink:Disease	pontocerebellar hypoplasia type 8	A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.	Orphanet:324569|OMIM:614961|SCTID:718611007|DOID:0060277|UMLS:C3554209	mondo.json	pontocerebellar hypoplasia due to CHMP1A mutation|pontocerebellar hypoplasia type 8|pontocerebellar hypoplasia, type 8|non-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1A|CHMP1A non-syndromic pontocerebellar hypoplasia|PCH8	http://purl.obolibrary.org/obo/MONDO_0013990	http://identifiers.org/snomedct/718611007|UMLS:C3554209|DOID:0060277|https://omim.org/entry/614961|Orphanet:324569	ordo_malformation_syndrome
HGNC:10593	biolink:NamedThing	SCN5A			mondo.json		http://identifiers.org/hgnc/10593		
UBERON:0019190	biolink:AnatomicalEntity	mucous gland of lung			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019190		
MONDO:0013991	biolink:Disease	obesity due to congenital leptin deficiency	Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia.	GARD:0013015|Orphanet:66628|OMIM:614962|UMLS:C3554224|DOID:0111334	mondo.json	LEPD|leptin deficiency or dysfunction|obesity, morbid, nonsyndromic 1|obesity, morbid, due to leptin deficiency	http://purl.obolibrary.org/obo/MONDO_0013991	DOID:0111334|UMLS:C3554224|Orphanet:66628|https://omim.org/entry/614962	gard_rare|ordo_disease
HGNC:10591	biolink:NamedThing	SCN4A			mondo.json		http://identifiers.org/hgnc/10591		
HGNC:10592	biolink:NamedThing	SCN4B			mondo.json		http://identifiers.org/hgnc/10592		
UBERON:0019189	biolink:AnatomicalEntity	carotid artery endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019189		
HP:0012730	biolink:PhenotypicFeature	Aglossia	Absence of the tongue owing to a developmental abnormality.	SNOMEDCT_US:74788000|UMLS:C0158663	mondo.json	Failure of development of tongue|Missing tongue|Absence of tongue	http://purl.obolibrary.org/obo/HP_0012730		
MONDO:0023303	biolink:Disease	obsolete Hamanishi-Ueba-Tsuji syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0023303		
HP:0012732	biolink:PhenotypicFeature	Anorectal anomaly	An abnormality of the anus or rectum.	UMLS:C3495676|MSH:D000071056|SNOMEDCT_US:33225004	mondo.json		http://purl.obolibrary.org/obo/HP_0012732		
MONDO:0023305	biolink:Disease	heavy metal poisoning	Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body. Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium. Exposure may occur through the diet, from medications, from the environment, or in the course of work or play. Heavy metals can enter the body through the skin, or by inhalation or ingestion. Toxicity can result from sudden, severe exposure, or from chronic exposure over time. Symptoms can vary depending on the metal involved, the amount absorbed, and the age of the person exposed. For example, young children are more susceptible to the effects of lead exposure because they absorb more compared with adults and their brains are still developing. Nausea, vomiting, diarrhea, and abdominal pain are common symptoms of acute metal ingestion. Chronic exposure may cause various symptoms resulting from damage to body organs, and may increase the risk of cancer. Treatment depends on the circumstances of the exposure.	GARD:0006577|ICD9:985.8|EFO:1001518|MESH:D000075322|SCTID:85866007	mondo.json	toxic effect of heavy metal|heavy metal toxicity|heavy metal poisoning|chronic heavy metal poisoning|heavy metal toxicosis	http://purl.obolibrary.org/obo/MONDO_0023305	http://identifiers.org/mesh/D000075322|http://identifiers.org/snomedct/85866007	gard_rare
MONDO:0011317	biolink:Disease	microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects		OMIM:603394|UMLS:C1863919|MESH:C566377	mondo.json	microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects	http://purl.obolibrary.org/obo/MONDO_0011317	UMLS:C1863919|http://identifiers.org/mesh/C566377|https://omim.org/entry/603394	
HP:0000766	biolink:PhenotypicFeature	Abnormal sternum morphology	An anomaly of the sternum, also known as the breastbone.	UMLS:C1860493	mondo.json	Sternal anomalies|Pectus excavatum or carinatum|Abnormality of the sternum|Pectus deformity|Pectus deformities|Pectus carinatum or pectus excavatum|Pectus excavatum or pectus carinatum|Pectus excavatum/carinatum	http://purl.obolibrary.org/obo/HP_0000766		hposlim_core
MONDO:0011316	biolink:Disease	osteosclerotic chondrodysplasia, lethal, with intracellular inclusions		OMIM:603393|UMLS:C1863920|MESH:C566378	mondo.json	osteosclerotic chondrodysplasia, lethal, with intracellular inclusions	http://purl.obolibrary.org/obo/MONDO_0011316	UMLS:C1863920|http://identifiers.org/mesh/C566378|https://omim.org/entry/603393	
MONDO:0013978	biolink:Disease	autosomal recessive nonsyndromic hearing loss 70	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene.	DOID:0110521|UMLS:C1824925|OMIM:614934	mondo.json	autosomal recessive nonsyndromic deafness 70|DFNB70|autosomal recessive nonsyndromic deafness caused by mutation in PNPT1|autosomal recessive deafness 70|autosomal recessive nonsyndromic deafness type 70|deafness, autosomal recessive type 70|deafness, autosomal recessive 70|PNPT1 autosomal recessive nonsyndromic deafness	http://purl.obolibrary.org/obo/MONDO_0013978	https://omim.org/entry/614934|UMLS:C1824925|DOID:0110521	
HP:0000769	biolink:PhenotypicFeature	Abnormality of the breast	An abnormality of the breast.	UMLS:C4025829	mondo.json	Abnormality of the breast	http://purl.obolibrary.org/obo/HP_0000769		hposlim_core
MONDO:0011319	biolink:Disease	obsolete activator of liver function 1		OMIM:603416	mondo.json	RPL21P1|activator of liver function type 1|ALFN1|activator of liver function 1|Half1|ribosomal Protein L21 pseudogene 1|ribosomal PROTEIN L21 pseudogene 1	http://purl.obolibrary.org/obo/MONDO_0011319	https://omim.org/entry/603416	
HP:0000768	biolink:PhenotypicFeature	Pectus carinatum	A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.	SNOMEDCT_US:205101001|MSH:D066166|UMLS:C0158731	mondo.json	Pigeon chest	http://purl.obolibrary.org/obo/HP_0000768		hposlim_core
MONDO:0013979	biolink:Disease	primary ciliary dyskinesia 19	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene.	DOID:0110608|UMLS:C3543826|OMIM:614935	mondo.json	ciliary dyskinesia, primary, type 19|primary ciliary dyskinesia type 19|primary ciliary dyskinesia caused by mutation in LRRC6|CILD19|primary ciliary dyskinesia 19|ciliary dyskinesia, primary, 19|primary ciliary dyskinesia 19 with or without situs inversus|ciliary dyskinesia, primary, 19, with or without situs inversus|LRRC6 primary ciliary dyskinesia	http://purl.obolibrary.org/obo/MONDO_0013979	DOID:0110608|https://omim.org/entry/614935|UMLS:C3543826	
MONDO:0011318	biolink:Disease	Tonoki syndrome		UMLS:C1863918|OMIM:603396|GARD:0010219|MESH:C536967	mondo.json	short stature, brachydactyly, nail dysplasia and mental retardation|Tonoki syndrome|short stature, brachydactyly, nail dysplasia and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0011318	http://identifiers.org/mesh/C536967|UMLS:C1863918|https://omim.org/entry/603396	gard_rare
CHEBI:30938	biolink:ChemicalSubstance	6-aminopenicillanate			mondo.json	(2S,5R,6R)-6-amino-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylate	http://purl.obolibrary.org/obo/CHEBI_30938		
GO:1904169	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_1904169		
GO:1904168	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_1904168		
MONDO:0011320	biolink:Disease	radioulnar synostosis-microcephaly-scoliosis syndrome	An extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.	Orphanet:3268|OMIM:603438|UMLS:C1863881|GARD:0000394	mondo.json	radioulnar synostosis with microcephaly, short stature, scoliosis, and intellectual disability|radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation|Giuffre-Tsukahara syndrome|Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and intellectual disability|Giuffré-Tsukahara syndrome|Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation|Tsukahara syndrome	http://purl.obolibrary.org/obo/MONDO_0011320	Orphanet:3268|UMLS:C1863881|https://omim.org/entry/603438	ordo_malformation_syndrome
MONDO:0013983	biolink:Disease	ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive		OMIM:614941|DOID:0111654|UMLS:C3539920	mondo.json	ectodermal dysplasia, hypohidrotic|ectodermal dysplasia, anhidrotic|ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive|ECTD11B	http://purl.obolibrary.org/obo/MONDO_0013983	DOID:0111654|UMLS:C3539920|https://omim.org/entry/614941	
MONDO:0013984	biolink:Disease	autosomal recessive nonsyndromic hearing loss 84B	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOGL gene.	DOID:0110530|OMIM:614944|UMLS:C3554159	mondo.json	DFNB84B|deafness, autosomal recessive type 84B|autosomal recessive nonsyndromic deafness type 84B|autosomal recessive nonsyndromic deafness 84B|deafness, autosomal recessive 84B|autosomal recessive deafness 84B|OTOGL autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 84b|autosomal recessive nonsyndromic deafness caused by mutation in OTOGL	http://purl.obolibrary.org/obo/MONDO_0013984	UMLS:C3554159|DOID:0110530|https://omim.org/entry/614944	
MONDO:0013981	biolink:Disease	myoclonus, familial	A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.	OMIMPS:614937|UMLS:C3539916|SCTID:763770005|Orphanet:319189	mondo.json	familial cortical myoclonus|familial myoclonus|FCM|myoclonus, familial cortical	http://purl.obolibrary.org/obo/MONDO_0013981	UMLS:C3539916|http://identifiers.org/snomedct/763770005|https://omim.org/phenotypicSeries/PS614937|Orphanet:319189	ordo_disease
MONDO:0011322	biolink:Disease	Oroacral syndrome, Verloes-Koulischer type		UMLS:C1863879|OMIM:603446|MESH:C566374	mondo.json	Oroacral syndrome, Verloes-Koulischer type	http://purl.obolibrary.org/obo/MONDO_0011322	UMLS:C1863879|http://identifiers.org/mesh/C566374|https://omim.org/entry/603446	
MONDO:0013982	biolink:Disease	ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant		OMIM:614940|DOID:0111653|UMLS:C3541517	mondo.json	ectodermal dysplasia, hypohidrotic, autosomal dominant|ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant|ECTD11A	http://purl.obolibrary.org/obo/MONDO_0013982	DOID:0111653|UMLS:C3541517|https://omim.org/entry/614940	
MONDO:0011321	biolink:Disease	expansile bone lesions		OMIM:603439|UMLS:C1863880|MESH:C566375	mondo.json	expansile bone lesions	http://purl.obolibrary.org/obo/MONDO_0011321	UMLS:C1863880|http://identifiers.org/mesh/C566375|https://omim.org/entry/603439	
HP:0000763	biolink:PhenotypicFeature	Sensory neuropathy	Peripheral neuropathy affecting the sensory nerves.	UMLS:C0151313|SNOMEDCT_US:95662005	mondo.json	Damage to nerves that sense feeling|Peripheral sensory neuropathy	http://purl.obolibrary.org/obo/HP_0000763		
MONDO:0013987	biolink:Disease	combined oxidative phosphorylation defect type 15	Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.	SCTID:763203009|OMIM:614947|DOID:0111491|UMLS:C3554182|Orphanet:319524	mondo.json	combined oxidative phosphorylation deficiency 15|COXPD15|combined oxidative phosphorylation deficiency caused by mutation in MTFMT|combined oxidative phosphorylation deficiency type 15|combined oxidative phosphorylation defect type 15|MTFMT combined oxidative phosphorylation deficiency	http://purl.obolibrary.org/obo/MONDO_0013987	https://omim.org/entry/614947|Orphanet:319524|http://identifiers.org/snomedct/763203009|DOID:0111491|UMLS:C3554182	ordo_disease
MONDO:0011324	biolink:Disease	obsolete hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss			mondo.json		http://purl.obolibrary.org/obo/MONDO_0011324		
MONDO:0011323	biolink:Disease	arhinia, choanal atresia, and microphthalmia		Orphanet:1135|MESH:C537429|OMIM:603457|SCTID:720511000	mondo.json	arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism|arhinia, choanal atresia, and microphthalmia|BAMS|Bosma arhinia microphthalmia syndrome|BOSMA arhinia microphthalmia syndrome	http://purl.obolibrary.org/obo/MONDO_0011323	http://identifiers.org/mesh/C537429|https://omim.org/entry/603457|http://identifiers.org/snomedct/720511000	
MONDO:0013988	biolink:Disease	congenital heart defects, multiple types, 3		UMLS:C3554194|OMIM:614954	mondo.json	congenital heart defects, multiple types, with Cardiac rhythm and conduction disturbances|congenital heart defects, multiple types, 3|CHTD3	http://purl.obolibrary.org/obo/MONDO_0013988	https://omim.org/entry/614954|UMLS:C3554194	
MONDO:0011326	biolink:Disease	citrullinemia, type II, adult-onset	Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.	GARD:0010215|OMIM:603471|DOID:0070342	mondo.json	citrullinemia type 2|adult-onset citrullinemia type 2|citrin deficiency|citrullinemia, adult-onset type II|adult-onset citrullinemia type II|citrullinemia, type II, ADULT-onset|citrullinemia type II|citrullinemia, type II, adult-onset|CTLN2	http://purl.obolibrary.org/obo/MONDO_0011326	DOID:0070342|https://omim.org/entry/603471	gard_rare
MONDO:0013985	biolink:Disease	autosomal recessive nonsyndromic hearing loss 18B	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene.	DOID:0110474|UMLS:C3554163|OMIM:614945	mondo.json	autosomal recessive nonsyndromic deafness 18B|deafness, autosomal recessive 18B|autosomal recessive deafness 18B|deafness, autosomal recessive 18b|autosomal recessive nonsyndromic deafness caused by mutation in OTOG|DFNB18B|deafness, autosomal recessive type 18B|OTOG autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 18B	http://purl.obolibrary.org/obo/MONDO_0013985	https://omim.org/entry/614945|UMLS:C3554163|DOID:0110474	
HP:0000765	biolink:PhenotypicFeature	Abnormal thorax morphology	Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).	UMLS:C4021797	mondo.json	Abnormality of the thorax|Abnormality of the chest|Structural abnormality of the chest wall	http://purl.obolibrary.org/obo/HP_0000765		
GO:1904172	biolink:NamedThing	positive regulation of bleb assembly	Any process that activates or increases the frequency, rate or extent of bleb assembly.		mondo.json	upregulation of cell blebbing|up regulation of bleb assembly|activation of bleb assembly|upregulation of bleb assembly|up-regulation of cell blebbing|up regulation of cell blebbing|positive regulation of cell blebbing|activation of cell blebbing|up-regulation of bleb assembly	http://purl.obolibrary.org/obo/GO_1904172		
MONDO:0013986	biolink:Disease	combined oxidative phosphorylation defect type 14	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene.	DOID:0111477|UMLS:C3554168|OMIM:614946|Orphanet:319519	mondo.json	combined oxidative phosphorylation deficiency 14|combined oxidative phosphorylation deficiency caused by mutation in FARS2|combined oxidative phosphorylation deficiency type 14|COXPD14|FARS2 combined oxidative phosphorylation deficiency	http://purl.obolibrary.org/obo/MONDO_0013986	https://omim.org/entry/614946|Orphanet:319519|UMLS:C3554168|DOID:0111477	ordo_disease
MONDO:0011325	biolink:Disease	Fanconi anemia complementation group F	Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM.	OMIM:603467|EFO:0009045|DOID:0111088|NCIT:C125707	mondo.json	Fanconi Anemia, complementation group type F|Fanconi anemia complementation group F|FANCF|Fanconi anemia, complementation group F|Fanconi anemia complementation group type F	http://purl.obolibrary.org/obo/MONDO_0011325	NCIT:C125707|DOID:0111088|https://omim.org/entry/603467	
GO:1904171	biolink:NamedThing	negative regulation of bleb assembly	Any process that stops, prevents or reduces the frequency, rate or extent of bleb assembly.		mondo.json	down-regulation of cell blebbing|negative regulation of cell blebbing|down regulation of cell blebbing|down-regulation of bleb assembly|downregulation of cell blebbing|inhibition of cell blebbing|down regulation of bleb assembly|downregulation of bleb assembly|inhibition of bleb assembly	http://purl.obolibrary.org/obo/GO_1904171		
GO:1904170	biolink:NamedThing	regulation of bleb assembly	Any process that modulates the frequency, rate or extent of bleb assembly.		mondo.json	regulation of cell blebbing	http://purl.obolibrary.org/obo/GO_1904170		
HP:0012735	biolink:PhenotypicFeature	Cough	A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.	SNOMEDCT_US:49727002|UMLS:C0010200|SNOMEDCT_US:263731006|SNOMEDCT_US:272039006|MSH:D003371	mondo.json	Cough|Coughing	http://purl.obolibrary.org/obo/HP_0012735		
MONDO:0035314	biolink:Disease	obsolete congenital tricuspid valve dysplasia	OBSOLETE. A rare congenital tricuspid malformation characterized by irregular thickening of the leaflet tissue by myxoid connective tissue in a normally delaminated tricuspid valve, without septal leaflet displacement, and without an atrialized right ventricle. The chordae tendineae may be short or absent. The affected valve is stenotic and/or incompetent. Clinically, most patients are asymptomatic and are diagnosed in the context of the evaluation of a murmur. [Orphanet:555874]	ICD10CM:Q22.8|Orphanet:555874	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035314	Orphanet:555874	
MONDO:0035313	biolink:Disease	lymphoplasmacytic inflammatory pseudotumor of the liver	A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with diffuse lymphoplasmacytic infiltration with histological features of IgG4-related disease (numerous IgG4-positive plasma cells, prominent eosinophils, stromal fibrosis, fibroblastic proliferations and, frequently, obliterative phlebitis), and that is likely located around the hepatic hilum. Most often it is discovered as an incidental finding.	Orphanet:555437|ICD10CM:K75.8	mondo.json	IgG4-related inflammatory pseudotumor of the liver	http://purl.obolibrary.org/obo/MONDO_0035313	Orphanet:555437	ordo_subtype_of_a_disorder
MONDO:0013980	biolink:Disease	palmoplantar keratoderma, punctate type ib		OMIM:614936|UMLS:C3554145	mondo.json	keratoderma, palmoplantar, punctate type IB|palmoplantar keratoderma, punctate type IB|PPKP1B	http://purl.obolibrary.org/obo/MONDO_0013980	UMLS:C3554145|https://omim.org/entry/614936	
MONDO:0035312	biolink:Disease	fibrohistiocytic inflammatory pseudotumor of the liver	A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with fibrohistiocytic infiltration (including xanthogranulomatous inflammation, multinucleated giant cells, and neutrophilic infiltration), typically localized in the peripheral hepatic parenchyma. Presentation may be of non-specific symptoms (fever, malaise, and abdominal pain) or as an incidental finding.	Orphanet:555434|ICD10CM:K75.8	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035312	Orphanet:555434	ordo_subtype_of_a_disorder
MONDO:0001983	biolink:Disease	peripheral degeneration of cornea		UMLS:C0155123|ICD9:371.48|SCTID:89182000|DOID:14507	mondo.json	peripheral degenerations of cornea	http://purl.obolibrary.org/obo/MONDO_0001983	http://identifiers.org/snomedct/89182000|DOID:14507|UMLS:C0155123	
MONDO:0001982	biolink:Disease	Niemann-Pick disease	A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.	EFO:1001380|GARD:0013334|NCIT:C61269|MESH:D009542|UMLS:C0028064|DOID:14504|SCTID:58459009	mondo.json	type A Niemann-Pick disease|sphingomyelinase deficiency disease|Niemann-Pick disease with cholesterol esterification block|lipoid histiocytosis (classical phosphatide)|sphingomyelin/cholesterol lipidosis|sphingomyelin lipidosis|lipoid histiocytosis|Niemann-Pick disease, subacute juvenile form	http://purl.obolibrary.org/obo/MONDO_0001982	UMLS:C0028064|http://identifiers.org/snomedct/58459009|http://identifiers.org/mesh/D009542|DOID:14504|NCIT:C61269	gard_rare
MONDO:0001981	biolink:Disease	obsolete cholesterol ester storage disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001981		
MONDO:0001980	biolink:Disease	obsolete Wolman disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001980		
MONDO:0001987	biolink:Disease	senile degeneration of brain		UMLS:C0154669|DOID:14524|SCTID:45864009|ICD9:331.2	mondo.json	Senile brain degen.	http://purl.obolibrary.org/obo/MONDO_0001987	UMLS:C0154669|http://identifiers.org/snomedct/45864009|DOID:14524	
MONDO:0001986	biolink:Disease	Argyll Robertson pupil		SCTID:21011008|DOID:14523|ICD10CM:H57.01|UMLS:C0155375|ICD9:379.45	mondo.json	atypical Argyll-Robertson pupil|Argyll Robertson phenomenon or pupil, nonsyphilitic|Argyll Robertson pupil, atypical	http://purl.obolibrary.org/obo/MONDO_0001986	http://identifiers.org/snomedct/21011008|http://purl.bioontology.org/ontology/ICD10CM/H57.01|DOID:14523|UMLS:C0155375	
MONDO:0001985	biolink:Disease	partial arterial retinal occlusion	A partial occlusion of the retinal artery.	UMLS:C0154839|DOID:14522|NCIT:C35192|SCTID:776009|ICD9:362.33	mondo.json	partial retinal arterial occlusion|retinal partial arterial occlusion	http://purl.obolibrary.org/obo/MONDO_0001985	UMLS:C0154839|http://identifiers.org/snomedct/776009|NCIT:C35192|DOID:14522	
MONDO:0025956	biolink:Disease	ovarian remnant syndrome	Ovarian remnant syndrome (ORS) is characterized by the presence of residual ovarian tissue after a woman has had surgery to remove one ovary or both ovaries (oophorectomy). Signs and symptoms may include pelvic pain, a pelvic mass, or the absence of menopause after oophorectomy. The condition may be caused by surgical factors leading to incomplete removal of ovarian tissue, including factors that limit surgical exposure of the ovary or compromise surgical technique. Factors may include pelvic adhesions (limiting ability to see the ovary or causing it to adhere to other tissues); anatomic variations; bleeding during surgery; or poor surgical technique. Treatment is indicated for people with symptoms and typically involves surgery to remove the residual tissue. Therapy for those who refuse surgery, cannot have surgery, or do not have a pelvic mass may include hormonal therapy to suppress ovarian function.	GARD:0007297	mondo.json		http://purl.obolibrary.org/obo/MONDO_0025956		gard_rare
MONDO:0001984	biolink:Disease	candidal paronychia	A candidiasis that results in fungal infection of the outer-most layer located in nail, has material basis in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury.	DOID:14512|ICD9:112.3|UMLS:C0006842|UMLS:C1282977|SCTID:187014000	mondo.json	candidiasis of skin and nails|candidiasis of skin	http://purl.obolibrary.org/obo/MONDO_0001984	UMLS:C0006842|http://identifiers.org/snomedct/187014000|DOID:14512|UMLS:C1282977	
MONDO:0013969	biolink:Disease	combined oxidative phosphorylation defect type 11	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene.	UMLS:C3554067|Orphanet:324535|OMIM:614922|DOID:0111481	mondo.json	combined oxidative phosphorylation deficiency type 11|COXPD11|combined oxidative phosphorylation deficiency 11|combined oxidative phosphorylation defect type 11|RMND1 combined oxidative phosphorylation deficiency|Encephaloneuromyopathy, infantile, due to mitochondrial translation defect|combined oxidative phosphorylation deficiency caused by mutation in RMND1	http://purl.obolibrary.org/obo/MONDO_0013969	https://omim.org/entry/614922|Orphanet:324535|UMLS:C3554067|DOID:0111481	ordo_disease
MONDO:0011306	biolink:Disease	muscular dystrophy, congenital, with cerebellar atrophy		OMIM:603323|UMLS:C1864028|MESH:C566392	mondo.json	muscular dystrophy, congenital, with cerebellar atrophy	http://purl.obolibrary.org/obo/MONDO_0011306	https://omim.org/entry/603323|UMLS:C1864028|http://identifiers.org/mesh/C566392	
MONDO:0011305	biolink:Disease	cerebral cavernous malformation 3	Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene.	DOID:0060671|MESH:C566393|UMLS:C1864040|OMIM:603285	mondo.json	PDCD10 familial cerebral cavernous malformation|cerebral cavernous malformation type 3|cerebral cavernous malformations-3|familial cerebral cavernous malformation caused by mutation in PDCD10|cerebral cavernous malformation 3|cerebral cavernous malformations type 3|CCM3|cerebral cavernous malformations 3	http://purl.obolibrary.org/obo/MONDO_0011305	https://omim.org/entry/603285|DOID:0060671|UMLS:C1864040|http://identifiers.org/mesh/C566393	
MONDO:0011308	biolink:Disease	GRACILE syndrome	GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).	OMIM:603358|GARD:0000001|SCTID:703388005|UMLS:C1864002|DOID:0111455|Orphanet:53693|ICD9:759.89|MESH:C537934	mondo.json	Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death|Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome|Growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death|Fellman syndrome|Fellman disease|Finnish lethal neonatal metabolic syndrome|gracile syndrome|lactic acidosis, Finnish, with hepatic hemosiderosis|Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome|FLNMS|Finnish lactic acidosis with hepatic hemosiderosis	http://purl.obolibrary.org/obo/MONDO_0011308	DOID:0111455|http://identifiers.org/mesh/C537934|https://omim.org/entry/603358|UMLS:C1864002|Orphanet:53693|http://identifiers.org/snomedct/703388005	ordo_disease|gard_rare
MONDO:0013967	biolink:Disease	peroxisome biogenesis disorder 14B		UMLS:C3554055|OMIM:614920	mondo.json	peroxisome biogenesis disorder 14B|PEX11B peroxisome biogenesis disorder|PEX14B|peroxisome biogenesis disorder type 14B	http://purl.obolibrary.org/obo/MONDO_0013967	https://omim.org/entry/614920|UMLS:C3554055	
MONDO:0013968	biolink:Disease	PGM1-congenital disorder of glycosylation		DOID:0080570|MESH:C567859|GARD:0004329|Orphanet:319646|OMIM:614921|UMLS:C2752015	mondo.json	congenital disorder of glycosylation type It|PGM1-CDG|PGM1-congenital disorder of glycosylation|CDG it|GSDXIV|type 14 glycogenosis|glycogen storage disease due to phosphoglucomutase deficiency|GSD type 14|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation type 1t|CDG-It|Pgm1 deficiency|congenital disorder of glycosylation, type It|glycogen storage disease 14|GSD 14|CDG1T|phosphoglucomutase deficiency type 1|phosphoglucomutase-1 deficiency|CDG syndrome type It	http://purl.obolibrary.org/obo/MONDO_0013968	https://omim.org/entry/614921|Orphanet:319646|http://identifiers.org/mesh/C567859|DOID:0080570|UMLS:C2752015	ordo_disease
MONDO:0011307	biolink:Disease	schizophrenia 2	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21.	OMIM:603342|DOID:0070078|UMLS:C1864010	mondo.json	schizophrenia susceptibility locus, chromosome 11Q-related|SCZD2|schizophrenia 2	http://purl.obolibrary.org/obo/MONDO_0011307	https://omim.org/entry/603342|UMLS:C1864010|DOID:0070078	
MONDO:0011309	biolink:Disease	familial gestational hyperthyroidism		SCTID:703309000|MESH:C566384|Orphanet:99819|OMIM:603373|ICD9:242.80|UMLS:C1863959|ICD9:648.10	mondo.json	hyperthyroidism, familial gestational	http://purl.obolibrary.org/obo/MONDO_0011309	https://omim.org/entry/603373|UMLS:C1863959|http://identifiers.org/mesh/C566384|Orphanet:99819|http://identifiers.org/snomedct/703309000	ordo_disease
HP:0000737	biolink:PhenotypicFeature	Irritability	A proneness to anger, i.e., a condition of being easily bothered or annoyed.	UMLS:C2700617	mondo.json	Irritable|Irritability	http://purl.obolibrary.org/obo/HP_0000737		
HP:0000739	biolink:PhenotypicFeature	Anxiety	Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control.	UMLS:C4020884|MSH:D001007|SNOMEDCT_US:48694002|UMLS:C0003467	mondo.json	Anxiety disease|Anxiousness|Excessive, persistent worry and fear|Anxiety	http://purl.obolibrary.org/obo/HP_0000739		
MONDO:0013972	biolink:Disease	Perrault syndrome 2	Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene.	UMLS:C3554105|OMIM:614926	mondo.json	PRLTS2|Perrault syndrome type 2|HARS2 Perrault syndrome|Perrault syndrome 2|Perrault syndrome caused by mutation in HARS2	http://purl.obolibrary.org/obo/MONDO_0013972	https://omim.org/entry/614926|UMLS:C3554105	
MONDO:0035320	biolink:Disease	early-onset familial hypoaldosteronism	A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low.	ICD10CM:E27.4|Orphanet:556030	mondo.json	Severe aldosterone synthase deficiency|Early-onset familial hyperreninemic hypoaldosteronism	http://purl.obolibrary.org/obo/MONDO_0035320	Orphanet:556030	ordo_subtype_of_a_disorder
MONDO:0013973	biolink:Disease	ectodermal dysplasia 5, hair/nail type		OMIM:614927|DOID:0111657|UMLS:C3554108	mondo.json	ectodermal dysplasia 5, hair/nail type|ECTD5	http://purl.obolibrary.org/obo/MONDO_0013973	https://omim.org/entry/614927|DOID:0111657|UMLS:C3554108	
MONDO:0013970	biolink:Disease	branched-chain keto acid dehydrogenase kinase deficiency	A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.	UMLS:C3554078|DOID:0090126|OMIM:614923|Orphanet:308410	mondo.json	branched-chain keto acid dehydrogenase kinase deficiency|autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency|BCKDKD|BCKDK deficiency|Bckdk deficiency|branched-chain KETO acid dehydrogenase KINASE deficiency	http://purl.obolibrary.org/obo/MONDO_0013970	UMLS:C3554078|DOID:0090126|https://omim.org/entry/614923|Orphanet:308410	ordo_disease
MONDO:0011311	biolink:Disease	glaucoma 1, open angle, F		MESH:C566383|OMIM:603383	mondo.json	glaucoma 1, open angle, type F|glaucoma 1, open angle, F|glaucoma, primary open angle, adult-onset|GLC1F	http://purl.obolibrary.org/obo/MONDO_0011311	http://identifiers.org/mesh/C566383|https://omim.org/entry/603383	obsoletion_candidate
MONDO:0013971	biolink:Disease	leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.	Orphanet:314051|UMLS:C3554079|GARD:0013381|OMIM:614924|DOID:0111493|SCTID:763366000	mondo.json	combined oxidative phosphorylation deficiency 12|combined oxidative phosphorylation deficiency caused by mutation in EARS2|LTBL|leukoencephalopathy with thalamus and brainstem involvement and high lactate|leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome|combined oxidative phosphorylation defect type 12|COXPD12|combined oxidative phosphorylation deficiency type 12|EARS2 combined oxidative phosphorylation deficiency	http://purl.obolibrary.org/obo/MONDO_0013971	https://omim.org/entry/614924|http://identifiers.org/snomedct/763366000|Orphanet:314051|UMLS:C3554079|DOID:0111493	ordo_disease
MONDO:0011310	biolink:Disease	long chain fatty acids, defect in transport of		OMIM:603376	mondo.json	long chain fatty acids, defect in TRANSPORT OF	http://purl.obolibrary.org/obo/MONDO_0011310	https://omim.org/entry/603376	
UBERON:0007198	biolink:AnatomicalEntity	hermaphrodite anatomical structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007198		
MONDO:0011313	biolink:Disease	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene.	OMIM:603387|MESH:C566381	mondo.json	Meg-PMG-Megacc syndrome|MPPH1|megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in PIK3R2|megalencephaly, mega corpus callosum, and complete lack of motor development|megalencephaly, polymicrogyria, mega corpus callosum syndrome|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1|PIK3R2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	http://purl.obolibrary.org/obo/MONDO_0011313	http://identifiers.org/mesh/C566381|https://omim.org/entry/603387	
MONDO:0013976	biolink:Disease	ectodermal dysplasia 9, hair/nail type	Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene.	OMIM:614931|UMLS:C3554127|DOID:0111656	mondo.json	ECTD9|HOXC13 pure hair and nail ectodermal dysplasia|ectodermal dysplasia 9, hair/nail type|pure hair and nail ectodermal dysplasia caused by mutation in HOXC13	http://purl.obolibrary.org/obo/MONDO_0013976	https://omim.org/entry/614931|UMLS:C3554127|DOID:0111656	
MONDO:0013977	biolink:Disease	combined oxidative phosphorylation defect type 13	Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.	SCTID:763110007|DOID:0111467|Orphanet:319514|OMIM:614932|UMLS:C3554129	mondo.json	combined oxidative phosphorylation deficiency 13|COXPD13|PNPT1 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in PNPT1|combined oxidative phosphorylation deficiency type 13	http://purl.obolibrary.org/obo/MONDO_0013977	https://omim.org/entry/614932|Orphanet:319514|DOID:0111467|UMLS:C3554129|http://identifiers.org/snomedct/763110007	ordo_disease
MONDO:0011312	biolink:Disease	thyroid carcinoma, nonmedullary, with or without cell oxyphilia		OMIM:603386|GARD:0008488|UMLS:C1863925|MESH:C537842	mondo.json	thyroid carcinoma, nonmedullary, with or without cell oxyphilia|TCO1|TCO|thyroid carcinoma, nonmedullary, with cell oxyphilia|nonmedullary thyroid carcinoma, with or without cell oxyphilia|TCO 1	http://purl.obolibrary.org/obo/MONDO_0011312	UMLS:C1863925|http://identifiers.org/mesh/C537842|https://omim.org/entry/603386	gard_rare
UBERON:0007197	biolink:AnatomicalEntity	hermaphroditic organism			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007197		
MONDO:0013974	biolink:Disease	ectodermal dysplasia 6, hair/nail type		OMIM:614928|UMLS:C3554111|DOID:0111659	mondo.json	ectodermal dysplasia 6, hair/nail type|ECTD6	http://purl.obolibrary.org/obo/MONDO_0013974	https://omim.org/entry/614928|UMLS:C3554111|DOID:0111659	
UBERON:0007196	biolink:AnatomicalEntity	tracheobronchial tree			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007196		
MONDO:0011315	biolink:Disease	Osebold skeletal dysplasia/osteolysis syndrome		MESH:C566380|UMLS:C1863922|OMIM:603389	mondo.json	Osebold skeletal dysplasia/osteolysis syndrome	http://purl.obolibrary.org/obo/MONDO_0011315	UMLS:C1863922|http://identifiers.org/mesh/C566380|https://omim.org/entry/603389	
MONDO:0011314	biolink:Disease	Graves disease, susceptibility to, 2		OMIM:603388	mondo.json	Graves disease, susceptibility to, 2|Graves disease, susceptibility to, type 2|Grd2	http://purl.obolibrary.org/obo/MONDO_0011314	https://omim.org/entry/603388	predisposition
MONDO:0013975	biolink:Disease	ectodermal dysplasia 7, hair/nail type	Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT74 gene.	OMIM:614929|UMLS:C3554117|DOID:0111660	mondo.json	ECTD7|KRT74 pure hair and nail ectodermal dysplasia|ectodermal dysplasia 7, hair/nail type|pure hair and nail ectodermal dysplasia caused by mutation in KRT74	http://purl.obolibrary.org/obo/MONDO_0013975	https://omim.org/entry/614929|DOID:0111660|UMLS:C3554117	
UBERON:0007195	biolink:AnatomicalEntity	stroma of bone marrow			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007195		
MONDO:0035328	biolink:Disease	obsolete rare disorder due to poisoning		Orphanet:556508	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035328	Orphanet:556508	
MONDO:0001979	biolink:Disease	dumping syndrome	A disorder of the gastrointestinal tract. It is typically caused by the rapid emptying of undigested food from the stomach to the small intestine following gastroesophageal surgery but may be seen secondary to diabetes or the use of certain medications. Clinical signs may be seen 30-60 minutes after eating (early dumping): cramping, nausea, vomiting and diarrhea or they may be seen 1-3 hours later as a result of hyperinsulinemic hypoglycemia (late dumping): sweating, dizziness, confusion and heart palpitations. Untreated, the clinical course progresses to malnutrition and weight loss.	NCIT:C2994|EFO:1001307|MESH:D004377|UMLS:C0013288|DOID:14495	mondo.json	dumping (jejunal) syndrome|jejunal syndrome	http://purl.obolibrary.org/obo/MONDO_0001979	http://identifiers.org/mesh/D004377|UMLS:C0013288|NCIT:C2994|DOID:14495	
MONDO:0001978	biolink:Disease	regional ureteric cancer	Carcinoma of the ureter without spread to any other region.	NCIT:C9356|UMLS:C0854921|DOID:14491	mondo.json	regional malignant ureteral tumor|regional ureter carcinoma|regional ureteric carcinoma	http://purl.obolibrary.org/obo/MONDO_0001978	UMLS:C0854921|NCIT:C9356|DOID:14491	
MONDO:0001977	biolink:Disease	ureteral lymphoma	A lymphoma that involves the ureter.	UMLS:C1336876|NCIT:C6175|DOID:14489	mondo.json	lymphoma of the ureter|ureter lymphoma|primary ureter lymphoma|lymphoma of ureter|ureteral lymphoma	http://purl.obolibrary.org/obo/MONDO_0001977	NCIT:C6175|UMLS:C1336876|DOID:14489	
MONDO:0035321	biolink:Disease	late-onset familial hypoaldosteronism	A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, metabolic acidosis, and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening.	ICD10CM:E27.4|Orphanet:556037	mondo.json	Late-onset familial hyperreninemic hypoaldosteronism|Mild aldosterone synthase deficiency	http://purl.obolibrary.org/obo/MONDO_0035321	Orphanet:556037	ordo_subtype_of_a_disorder
MONDO:0001994	biolink:Disease	sphenoidal sinus cancer	A malignant neoplasm involving the sphenoidal sinus.	UMLS:C0153479|NCIT:C3543|ICD9:160.5|DOID:14546|SCTID:363428005|ICD10CM:C31.3	mondo.json	malignant tumor of the sphenoidal sinus|malignant neoplasm of sphenoid sinus|malignant neoplasm of the sphenoid sinus|malignant sphenoid sinus tumor|malignant sphenoid sinus neoplasm|malignant neoplasm of sphenoidal sinus|malignant tumor of sphenoidal sinus|malignant neoplasm of the sphenoidal sinus|malignant sphenoidal sinus tumor|sphenoidal sinus cancer|malignant tumor of sphenoid sinus|malignant tumor of the sphenoid sinus|cancer of sphenoidal sinus|malignant sphenoidal sinus neoplasm	http://purl.obolibrary.org/obo/MONDO_0001994	UMLS:C0153479|NCIT:C3543|http://purl.bioontology.org/ontology/ICD10CM/C31.3|DOID:14546|http://identifiers.org/snomedct/363428005	
MONDO:0001993	biolink:Disease	seminal vesicle adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the seminal vesicle	NCIT:C39906|UMLS:C1519233|DOID:14545	mondo.json	seminal vesicle adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0001993	NCIT:C39906|DOID:14545|UMLS:C1519233	
MONDO:0001992	biolink:Disease	rete testis adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the rete testis	NCIT:C8955|UMLS:C0863024|DOID:14544	mondo.json	adenocarcinoma of the rete testis|rete testis adenocarcinoma|adenocarcinoma of rete testis|carcinoma, rete testis, malignant	http://purl.obolibrary.org/obo/MONDO_0001992	DOID:14544|NCIT:C8955|UMLS:C0863024	
MONDO:0001991	biolink:Disease	malignant cardiac germ cell tumor	A rare malignant germ cell tumor that arises from the pericardium.	NCIT:C5371|UMLS:C1334566|DOID:14535	mondo.json	malignant germ cell tumor of heart|malignant Cardiac germ cell neoplasm|malignant Cardiac germ cell tumor|malignant germ cell tumor of the heart|malignant germ cell neoplasm of the heart|malignant germ cell neoplasm of heart|malignant heart germ cell tumor|malignant heart germ cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0001991	UMLS:C1334566|DOID:14535|NCIT:C5371	
MONDO:0001998	biolink:Disease	Foster-Kennedy syndrome	Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect.	DOID:14555|ICD9:377.04|UMLS:C0152112|EFO:1001330|SCTID:87764000	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001998	UMLS:C0152112|http://identifiers.org/snomedct/87764000|DOID:14555	
MONDO:0001997	biolink:Disease	root resorption	Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed)	MESH:D012391|DOID:14550|UMLS:C0035851	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001997	UMLS:C0035851|http://identifiers.org/mesh/D012391|DOID:14550	
MONDO:0001996	biolink:Disease	steroid-induced glaucoma - borderline		SCTID:302895007|ICD9:365.03|DOID:14548|UMLS:C0339572	mondo.json	borderline glaucoma steroid responder|steroid responders borderline glaucoma	http://purl.obolibrary.org/obo/MONDO_0001996	http://identifiers.org/snomedct/302895007|UMLS:C0339572|DOID:14548	
MONDO:0001995	biolink:Disease	sphenoid sinus squamous cell carcinoma	A squamous cell carcinoma that arises from the mucosal epithelial surface of the sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.	NCIT:C6066|UMLS:C1336039|SCTID:707355002|DOID:14547	mondo.json	epidermoid carcinoma of the sphenoidal sinus|sphenoidal sinus epidermoid carcinoma|squamous cell carcinoma of sphenoidal sinus|squamous cell carcinoma of the sphenoidal sinus|sphenoidal sinus squamous cell carcinoma|epidermoid carcinoma of sphenoid sinus|epidermoid carcinoma of the sphenoid sinus|sphenoid sinus squamous cell carcinoma|sphenoid sinus epidermoid carcinoma|epidermoid carcinoma of sphenoidal sinus|squamous cell carcinoma of sphenoid sinus|squamous cell carcinoma of the sphenoid sinus	http://purl.obolibrary.org/obo/MONDO_0001995	DOID:14547|NCIT:C6066|http://identifiers.org/snomedct/707355002|UMLS:C1336039	
HP:0000745	biolink:PhenotypicFeature	Diminished motivation	A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action.	UMLS:C0456814|SNOMEDCT_US:277521002	mondo.json	Lack of motivation|Lacking in initiative|Diminished motivation|Lacks initiative|Lack of initiative	http://purl.obolibrary.org/obo/HP_0000745		
MONDO:0013958	biolink:Disease	obsolete monocyte and dendritic cell deficiency, autosomal recessive			mondo.json		http://purl.obolibrary.org/obo/MONDO_0013958		
MONDO:0013959	biolink:Disease	Charcot-Marie-Tooth disease type 4F	Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.	GARD:0012441|Orphanet:99952|SCTID:715801001|OMIM:614895|UMLS:C3540453|DOID:0110193	mondo.json	Charcot-Marie-Tooth disease, demyelinating, type 4F|Charcot-Marie-Tooth disease, type 4F|Charcot-Marie-Tooth disease type 4 caused by mutation in Prx|Charcot-Marie-Tooth disease type 4 caused by mutation in PRX|CMT4F|PRX Charcot-Marie-Tooth disease type 4|Prx Charcot-Marie-Tooth disease type 4	http://purl.obolibrary.org/obo/MONDO_0013959	DOID:0110193|http://identifiers.org/snomedct/715801001|UMLS:C3540453|https://omim.org/entry/614895|Orphanet:99952	ordo_disease|gard_rare
UBERON:0007182	biolink:AnatomicalEntity	muscle layer of infundibulum of uterine tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007182		
MONDO:0013956	biolink:Disease	mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections.	OMIM:614892|Orphanet:319595|UMLS:C4013950	mondo.json	MSMD due to partial signal transducer and activator of transcription 1 deficiency|MSMD due to partial STAT1 deficiency|immunodeficiency 31A, Mycobacteriosis, autosomal dominant|autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in STAT1|IMD31A|Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency|STAT1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency|immunodeficiency 31A|Stat1 deficiency, autosomal dominant|immunodeficiency type 31A	http://purl.obolibrary.org/obo/MONDO_0013956	UMLS:C4013950|https://omim.org/entry/614892|Orphanet:319595	predisposition|ordo_disease
UBERON:0007181	biolink:AnatomicalEntity	serosa of infundibulum of uterine tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007181		
MONDO:0013957	biolink:Disease	mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency	A rare genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG).	OMIM:614893|UMLS:C3808589|Orphanet:319600	mondo.json	autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IRF8|immunodeficiency 32A|MSMD due to partial IRF8 deficiency|immunodeficiency type 32A|Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency|immunodeficiency 32A, Mycobacteriosis, autosomal dominant|IMD32A|MSMD due to partial interferon regulatory factor 8 deficiency|CD11c-positive/CD1c-positive Dendritic cell deficiency, autosomal dominant|IRF8 deficiency, autosomal dominant|IRF8 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency	http://purl.obolibrary.org/obo/MONDO_0013957	UMLS:C3808589|https://omim.org/entry/614893|Orphanet:319600	ordo_disease|predisposition
MONDO:0001990	biolink:Disease	malignant cardiac peripheral nerve sheath neoplasm	A very rare malignant peripheral nerve sheath tumor that arises from the heart.	UMLS:C1334569|NCIT:C5367|DOID:14534	mondo.json	malignant schwannoma of the heart|malignant heart schwannoma|malignant Cardiac neurilemmoma|malignant schwannoma of heart|MPNST of heart|Cardiac malignant peripheral nerve sheath tumor|malignant neurilemmoma of the heart|malignant Cardiac peripheral nerve sheath tumor|Cardiac MPNST|malignant neurilemmoma of heart|malignant Cardiac schwannoma|CARDIAC schwannoma, malignant|malignant peripheral nerve sheath neoplasm of the heart|malignant peripheral nerve sheath neoplasm of heart|malignant heart peripheral nerve sheath tumor|heart malignant peripheral nerve sheath tumor|malignant heart peripheral nerve sheath neoplasm|heart MPNST|MPNST of the heart|malignant peripheral nerve sheath tumor of the heart|malignant peripheral nerve sheath tumor of heart|malignant heart neurilemmoma|malignant Cardiac peripheral nerve sheath neoplasm	http://purl.obolibrary.org/obo/MONDO_0001990	UMLS:C1334569|DOID:14534|NCIT:C5367	
MONDO:0013961	biolink:Disease	hypogonadotropic hypogonadism 16 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene.	UMLS:C3554021|DOID:0090080|ICD10CM:E23.0|OMIM:614897	mondo.json	hypogonadotropic hypogonadism 16 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in SEMA3A|SEMA3A hypogonadotropic hypogonadism|HH16	http://purl.obolibrary.org/obo/MONDO_0013961	https://omim.org/entry/614897|UMLS:C3554021|DOID:0090080	
HGNC:10586	biolink:NamedThing	SCN1B			mondo.json		http://identifiers.org/hgnc/10586		
MONDO:0013962	biolink:Disease	hereditary spastic paraplegia 53	A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.	Orphanet:319199|OMIM:614898|DOID:0110805|SCTID:723823004|UMLS:C3539494|UMLS:C4510082	mondo.json	spastic paraplegia 53, autosomal recessive|autosomal recessive complex spastic paraplegia caused by mutation in VPS37A|autosomal recessive spastic paraplegia type 53|SPG53|hereditary spastic paraplegia 53|autosomal recessive spastic paraplegia 53|VPS37A autosomal recessive complex spastic paraplegia|hereditary spastic paraplegia type 53	http://purl.obolibrary.org/obo/MONDO_0013962	UMLS:C4510082|https://omim.org/entry/614898|Orphanet:319199|http://identifiers.org/snomedct/723823004|UMLS:C3539494|DOID:0110805	ordo_disease
MONDO:0011300	biolink:Disease	myopia 3, autosomal dominant		UMLS:C1864111|MESH:C566397|OMIM:603221	mondo.json	myopia 3, autosomal dominant|MYP3|myopia-3	http://purl.obolibrary.org/obo/MONDO_0011300	UMLS:C1864111|http://identifiers.org/mesh/C566397|https://omim.org/entry/603221	
MONDO:0013960	biolink:Disease	sinoatrial node dysfunction and deafness	Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.	Orphanet:324321|UMLS:C3554018|OMIM:614896	mondo.json	SANDD|sinoatrial node dysfunction and deafness	http://purl.obolibrary.org/obo/MONDO_0013960	https://omim.org/entry/614896|Orphanet:324321|UMLS:C3554018	ordo_disease
HGNC:10585	biolink:NamedThing	SCN1A			mondo.json		http://identifiers.org/hgnc/10585		
UBERON:0007188	biolink:AnatomicalEntity	mesothelium of serous pericardium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007188		
MONDO:0013965	biolink:Disease	lethal congenital contracture syndrome 4	Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene.	OMIM:614915|UMLS:C3554046|Orphanet:137783|GARD:0012645|DOID:0060654	mondo.json	LCCS4|MYBPC1 lethal congenital contracture syndrome|lethal congenital contracture syndrome 4|lethal congenital contracture syndrome caused by mutation in MYBPC1|lethal congenital contracture syndrome type 4	http://purl.obolibrary.org/obo/MONDO_0013965	DOID:0060654|https://omim.org/entry/614915|UMLS:C3554046	gard_rare
MONDO:0011302	biolink:Disease	type 1 diabetes mellitus 17	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q25.	OMIM:603266|DOID:0110754|UMLS:C1864068|MESH:C566395	mondo.json	diabetes mellitus, insulin-dependent, 17|IDDM17|insulin-dependent diabetes mellitus 17	http://purl.obolibrary.org/obo/MONDO_0011302	DOID:0110754|UMLS:C1864068|http://identifiers.org/mesh/C566395|https://omim.org/entry/603266	
HP:0000741	biolink:PhenotypicFeature	Apathy		UMLS:C0085632|MSH:D057565|SNOMEDCT_US:20602000	mondo.json	Lack of feeling, emotion, interest	http://purl.obolibrary.org/obo/HP_0000741		
MONDO:0011301	biolink:Disease	pseudohypoparathyroidism type 1B	Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.	Orphanet:94089|GARD:0010680|UMLS:C2932715|MESH:C548075|DOID:0080222|OMIM:603233	mondo.json	pseudohypoparathyroidism, type 1B|PHP1B|pseudohypoparathyroidism type IB|Php 1B|pseudohypoparathyroidism Ib|pseudohypoparathyroidism, type IB	http://purl.obolibrary.org/obo/MONDO_0011301	Orphanet:94089|UMLS:C2932715|DOID:0080222|http://identifiers.org/mesh/C548075|https://omim.org/entry/603233	ordo_disease|gard_rare
MONDO:0013966	biolink:Disease	catecholaminergic polymorphic ventricular tachycardia 4	Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene.	UMLS:C3554047|DOID:0060678|ICD10CM:I47.2|OMIM:614916	mondo.json	catecholaminergic polymorphic ventricular tachycardia 4|CPVT4|CALM1 catecholaminergic polymorphic ventricular tachycardia|ventricular tachycardia, catecholaminergic polymorphic, 4|catecholaminergic polymorphic ventricular tachycardia type 4|ventricular tachycardia, catecholaminergic polymorphic, type 4|catecholaminergic polymorphic ventricular tachycardia caused by mutation in CALM1|CVPT4	http://purl.obolibrary.org/obo/MONDO_0013966	DOID:0060678|https://omim.org/entry/614916|UMLS:C3554047	
MONDO:0011304	biolink:Disease	cerebral cavernous malformation 2	Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene.	DOID:0060670|UMLS:C1864041|MESH:C566394|OMIM:603284	mondo.json	CCM2 familial cerebral cavernous malformation|cerebral cavernous malformations 2|cerebral cavernous malformation type 2|familial cerebral cavernous malformation caused by mutation in CCM2|cerebral cavernous malformations-2|cerebral cavernous malformation 2|cerebral cavernous malformations type 2|CCM2	http://purl.obolibrary.org/obo/MONDO_0011304	DOID:0060670|UMLS:C1864041|http://identifiers.org/mesh/C566394|https://omim.org/entry/603284	
MONDO:0013963	biolink:Disease	autosomal recessive nonsyndromic hearing loss 93	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene.	OMIM:614899|DOID:0110537	mondo.json	autosomal recessive nonsyndromic deafness type 93|deafness, autosomal recessive type 93|CABP2 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in CABP2|autosomal recessive deafness 93|autosomal recessive nonsyndromic deafness 93|DFNB93|deafness, autosomal recessive 93	http://purl.obolibrary.org/obo/MONDO_0013963	https://omim.org/entry/614899|DOID:0110537	
HGNC:10588	biolink:NamedThing	SCN2A			mondo.json		http://identifiers.org/hgnc/10588		
MONDO:0011303	biolink:Disease	focal segmental glomerulosclerosis 1	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene.	MESH:C538457|DOID:0111128|OMIM:603278|Orphanet:93213	mondo.json	focal segmental glomerulosclerosis caused by mutation in ACTN4|FSGS1|glomerulosclerosis, focal segmental, 1|focal segmental glomerulosclerosis 1|familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis|ACTN4 focal segmental glomerulosclerosis|familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis|focal segmental glomerulosclerosis type 1	http://purl.obolibrary.org/obo/MONDO_0011303	Orphanet:93213|http://identifiers.org/mesh/C538457|DOID:0111128|https://omim.org/entry/603278	ordo_histopathological_subtype
MONDO:0013964	biolink:Disease	Diamond-Blackfan anemia 11	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene.	UMLS:C3554042|OMIM:614900	mondo.json	Diamond-Blackfan anemia caused by mutation in RPL26|Diamond-Blackfan Anemia type 11|Diamond-Blackfan anemia 11|RPL26 Diamond-Blackfan anemia|DBA11	http://purl.obolibrary.org/obo/MONDO_0013964	https://omim.org/entry/614900|UMLS:C3554042	
HGNC:10589	biolink:NamedThing	SCN2B			mondo.json		http://identifiers.org/hgnc/10589		
MONDO:0001989	biolink:Disease	atrophic glossitis		UMLS:C0155964|ICD9:529.4|ICD10CM:K14.4|SCTID:9491003|DOID:1453	mondo.json	glossitis, Hunter's|Hunter's glossitis|smooth atrophic tongue|atrophy of tongue papillae	http://purl.obolibrary.org/obo/MONDO_0001989	UMLS:C0155964|DOID:1453|http://purl.bioontology.org/ontology/ICD10CM/K14.4|http://identifiers.org/snomedct/9491003	
MONDO:0035337	biolink:Disease	Duane retraction syndrome with congenital deafness	A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome.	Orphanet:529574	mondo.json	DURS with hearing loss|DURS with deafness|Duane retraction syndrome with congenital hearing loss|DRS with hearing loss|DRS with deafness	http://purl.obolibrary.org/obo/MONDO_0035337	Orphanet:529574	ordo_disorder
MONDO:0001988	biolink:Disease	external pathological resorption		ICD9:521.42|DOID:14529|UMLS:C0266878|SCTID:41918006	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001988	UMLS:C0266878|http://identifiers.org/snomedct/41918006|DOID:14529	
HGNC:10582	biolink:NamedThing	SCN10A			mondo.json		http://identifiers.org/hgnc/10582		
HGNC:10583	biolink:NamedThing	SCN11A			mondo.json		http://identifiers.org/hgnc/10583		
HP:0012718	biolink:PhenotypicFeature	Morphological abnormality of the gastrointestinal tract	Abnormal structure of the gastrointestinal tract.	UMLS:C4021073	mondo.json	Morphological anomaly of the digestive system|Abnormal shape of the digestive system|Morphological abnormality of the GI tract	http://purl.obolibrary.org/obo/HP_0012718		
HP:0012719	biolink:PhenotypicFeature	Functional abnormality of the gastrointestinal tract	Abnormal functionality of the gastrointestinal tract.	UMLS:C4022755	mondo.json	Functional abnormality of the GI tract|GI dysfunction	http://purl.obolibrary.org/obo/HP_0012719		
HGNC:10548	biolink:NamedThing	ATXN1			mondo.json		http://identifiers.org/hgnc/10548		
HGNC:10549	biolink:NamedThing	ATXN10			mondo.json		http://identifiers.org/hgnc/10549		
HP:0012780	biolink:PhenotypicFeature	Neoplasm of the ear	A tumor (abnormal growth of tissue) of the ear.	NCIT:C3262|MSH:D004428|UMLS:C0013449|SNOMEDCT_US:363228008	mondo.json	Ear tumor|Ear tumour	http://purl.obolibrary.org/obo/HP_0012780		
MONDO:0011375	biolink:Disease	brittle bone disorder		UMLS:C1859069|OMIM:603828|MESH:C565842	mondo.json	brittle bone disorder	http://purl.obolibrary.org/obo/MONDO_0011375	http://identifiers.org/mesh/C565842|https://omim.org/entry/603828|UMLS:C1859069	
MONDO:0011374	biolink:Disease	hypercholesterolemia, familial, 4	An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia.	NCIT:C128114|OMIM:603813|UMLS:C1863512|MESH:C566331|DOID:0090105	mondo.json	autosomal recessive hypercholesterolemia 2|FHCB1|autosomal recessive hypercholesterolemia 1|familial autosomal recessive hypercholesterolemia|hypercholesterolemia, autosomal recessive, 2, formerly|hypercholesterolemia, autosomal recessive, 1, formerly|hypercholesterolemia, autosomal recessive|hypercholesterolemia, autosomal recessive, 2|hypercholesterolemia, autosomal recessive, 1|ARH|FHCB2, formerly|FHCB1, formerly|ARH2|ARH1|FHCB2	http://purl.obolibrary.org/obo/MONDO_0011374	DOID:0090105|https://omim.org/entry/603813|UMLS:C1863512|http://identifiers.org/mesh/C566331|NCIT:C128114	
MONDO:0011377	biolink:Disease	long QT syndrome 3	An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.	OMIM:603830|MESH:C565840|Orphanet:101016|DOID:0110646|UMLS:C1859062|NCIT:C137959|GARD:0003286|UMLS:C2931401	mondo.json	long QT syndrome type 3|SCN5A long QT syndrome|long QT syndrome caused by mutation in SCN5A|long QT syndrome 2/3, digenic|LQT3|long QT syndrome 3, acquired, susceptibility to|long QT syndrome 3/6, digenic|long QT syndrome 3	http://purl.obolibrary.org/obo/MONDO_0011377	http://identifiers.org/mesh/C565840|DOID:0110646|https://omim.org/entry/603830|UMLS:C2931401|UMLS:C1859062|NCIT:C137959	gard_rare
MONDO:0011376	biolink:Disease	ventricular fibrillation, paroxysmal familial, type 1		MESH:C567851|OMIM:603829|UMLS:C2751898|SCTID:233915000	mondo.json	ventricular fibrillation, familial, 1|ventricular fibrillation, paroxysmal familial, type 1|IVF|ventricular fibrillation during myocardial infarction, susceptibility to|VF1|ventricular fibrillation, paroxysmal familial, 1	http://purl.obolibrary.org/obo/MONDO_0011376	http://identifiers.org/mesh/C567851|http://identifiers.org/snomedct/233915000|https://omim.org/entry/603829|UMLS:C2751898	ordo_disease
MONDO:0011379	biolink:Disease	obsolete medullary cystic kidney disease 2			mondo.json		http://purl.obolibrary.org/obo/MONDO_0011379		
MONDO:0011378	biolink:Disease	obsolete CFM1		OMIM:603855	mondo.json	cystic fibrosis, modifier of, 1|meconium ileus in cystic fibrosis, susceptibility to|CFM1	http://purl.obolibrary.org/obo/MONDO_0011378	https://omim.org/entry/603855	
HGNC:10555	biolink:NamedThing	ATXN2			mondo.json		http://identifiers.org/hgnc/10555		
HP:0009125	biolink:PhenotypicFeature	Lipodystrophy	Degenerative changes of the fat tissue.	MSH:D008060|UMLS:C0023787|SNOMEDCT_US:71325002	mondo.json	Inability to make and keep healthy fat tissue	http://purl.obolibrary.org/obo/HP_0009125		
MONDO:0011371	biolink:Disease	hydroa vacciniforme, familial	An instance of hydroa vacciniforme that is caused by an inherited modification of the individual's genome.	GARD:0010079|OMIM:603794|MESH:C536077|UMLS:C1863533	mondo.json	familial hydroa vacciniforme|hydroa vacciniforme, familial|hereditary hydroa vacciniforme	http://purl.obolibrary.org/obo/MONDO_0011371	https://omim.org/entry/603794|UMLS:C1863533|http://identifiers.org/mesh/C536077	gard_rare
HP:0009122	biolink:PhenotypicFeature	Aplasia/hypoplasia affecting bones of the axial skeleton	Absence (due to failure to form) or underdevelopment of bones of the axial skeleton.	UMLS:C4024585	mondo.json		http://purl.obolibrary.org/obo/HP_0009122		
MONDO:0011370	biolink:Disease	Stargardt disease 4	Any Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene.	OMIM:603786|MESH:C535521|UMLS:C1863534	mondo.json	Stargardt disease 4|Stargardt disease type 4|STGD4|Stargardt disease caused by mutation in PROM1|PROM1 Stargardt disease	http://purl.obolibrary.org/obo/MONDO_0011370	http://identifiers.org/mesh/C535521|https://omim.org/entry/603786|UMLS:C1863534	
HP:0009121	biolink:PhenotypicFeature	Abnormal axial skeleton morphology	An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum.	UMLS:C4020785|UMLS:C4024586	mondo.json	Abnormality of the axial skeleton	http://purl.obolibrary.org/obo/HP_0009121		
HP:0009124	biolink:PhenotypicFeature	Abnormal adipose tissue morphology	An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes.	UMLS:C4021524	mondo.json	Abnormality of fat tissue|Abnormality of adipose tissue|Abnormality of fatty tissue	http://purl.obolibrary.org/obo/HP_0009124		
HP:0000790	biolink:PhenotypicFeature	Hematuria	The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).	UMLS:C0018965|SNOMEDCT_US:53298000|SNOMEDCT_US:34436003|MSH:D006417	mondo.json	Blood in urine|High urine occult blood	http://purl.obolibrary.org/obo/HP_0000790		
MONDO:0011373	biolink:Disease	urinary tract infections, recurrent, susceptibility to		OMIM:603806	mondo.json	urinary tract infections, recurrent, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0011373	https://omim.org/entry/603806	predisposition
MONDO:0011372	biolink:Disease	microcephaly with simplified gyral pattern		MESH:C566332|UMLS:C1863516|OMIM:603802	mondo.json	microcephaly with simplified gyral pattern	http://purl.obolibrary.org/obo/MONDO_0011372	https://omim.org/entry/603802|UMLS:C1863516|http://identifiers.org/mesh/C566332	
MONDO:0011364	biolink:Disease	autosomal recessive nonsyndromic hearing loss 16	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the STRC gene.	OMIM:603720|UMLS:C1863561|MESH:C566339|DOID:0110471	mondo.json	deafness, autosomal recessive type 16|STRC autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness 16|DFNB16|autosomal recessive nonsyndromic deafness type 16|autosomal recessive deafness 16|deafness, autosomal recessive 16|autosomal recessive nonsyndromic deafness caused by mutation in STRC	http://purl.obolibrary.org/obo/MONDO_0011364	http://identifiers.org/mesh/C566339|DOID:0110471|https://omim.org/entry/603720|UMLS:C1863561	clingen
MONDO:0011363	biolink:Disease	diabetes mellitus, noninsulin-dependent, 3		UMLS:C1863594|MESH:C566342|OMIM:603694	mondo.json	diabetes mellitus, noninsulin-dependent, 3|noninsulin-dependent diabetes mellitus 3|diabetes mellitus, noninsulin-dependent, type 3|type 2 diabetes mellitus 3|NIDDM3	http://purl.obolibrary.org/obo/MONDO_0011363	http://identifiers.org/mesh/C566342|https://omim.org/entry/603694|UMLS:C1863594	
MONDO:0011366	biolink:Disease	ovarian germ cell tumor	A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma.	GARD:0009330|DOID:2156|SCTID:237059008|EFO:1000419|ICD9:239.5|UMLS:C0238324|OMIM:603737|NCIT:C3873|ONCOTREE:OGCT	mondo.json	germ cell neoplasm of the ovary|germ cell neoplasm of ovary|ovary germ cell tumor|ovarian germ cell cancer|ovarian germ cell tumor|germ cell tumor of the ovary|ovarian germ cell neoplasm|germ cell tumor of ovary	http://purl.obolibrary.org/obo/MONDO_0011366	DOID:2156|https://omim.org/entry/603737|http://identifiers.org/snomedct/237059008|UMLS:C0238324|NCIT:C3873	
MONDO:0011365	biolink:Disease	blepharophimosis - intellectual disability syndrome, SBBYS type	Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.	MESH:C536717|Orphanet:3047|OMIM:603736|SCTID:699298009|DOID:0060290|ICD9:759.89	mondo.json	SBBYSS|hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome|Young-Simpson syndrome|SBBYSS syndrome|Say-Barber-Biesecker-Young-Simpson syndrome|Ohdo syndrome, SBBYS variant|blepharophimosis - intellectual disability syndrome, SBBYS type	http://purl.obolibrary.org/obo/MONDO_0011365	http://identifiers.org/mesh/C536717|https://omim.org/entry/603736|DOID:0060290|Orphanet:3047|http://identifiers.org/snomedct/699298009	ordo_malformation_syndrome
MONDO:0011368	biolink:Disease	papillary thyroid Microcarcinoma	A papillary carcinoma of the thyroid gland measuring 10mm or less in diameter. The survival rates of patients with this type of carcinoma are the same with those of the normal population.	NCIT:C46004|MESH:C563277|OMIM:603744|ICDO:8341/3|UMLS:C1709457	mondo.json	papillary Microcarcinoma of the thyroid gland|papillary Microcarcinoma of the thyroid|papillary thyroid Microcarcinoma|thyroid gland papillary Microcarcinoma|papillary thyroid gland Microcarcinoma	http://purl.obolibrary.org/obo/MONDO_0011368	NCIT:C46004|http://identifiers.org/mesh/C563277|https://omim.org/entry/603744|UMLS:C1709457	
MONDO:0011367	biolink:Disease	Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia	A hereditary disorder characterized by disproportionate short stature, a relatively large head, and a long triangular face early in life. This phenotype later evolves to one with in which the head is relatively small, the mandible is large and pointy. The affected individuals have normal cognitive abilities and lack any neurological deficits. Other typical features include a prominent nose, a voice with an unusual high-pitched sound, relatively small ears, curved digits (clinodactyly), short bones in fingers and toes (brachydactyly), small hands, underdeveloped (hypoplastic) fingernails, a waddling gait, and sparse hair post-pubertally.	MESH:C538181|UMLS:C1863556|GARD:0010076|OMIM:603740	mondo.json	acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia|acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia	http://purl.obolibrary.org/obo/MONDO_0011367	https://omim.org/entry/603740|UMLS:C1863556|http://identifiers.org/mesh/C538181	gard_rare
MONDO:0011369	biolink:Disease	hypercholesterolemia, autosomal dominant, 3	Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene.	MESH:C566337|OMIM:603776|UMLS:C1863551	mondo.json	HCHOLA3|hypercholesterolemia, autosomal dominant, 3|PCSK9 familial hypercholesterolemia|low density lipoprotein cholesterol level QTL 1|hypercholesterolemia, autosomal dominant, type 3|familial hypercholesterolemia caused by mutation in PCSK9|Fh3|low density lipoprotein cholesterol level quantitative trait locus 1|hypercholesterolemia, familial, 3	http://purl.obolibrary.org/obo/MONDO_0011369	http://identifiers.org/mesh/C566337|https://omim.org/entry/603776|UMLS:C1863551	clingen
ENVO:01000060	biolink:NamedThing	particulate matter	Particulate material is an environmental material which is composed of microscopic portions of solid or liquid material suspended in another environmental material.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000060		
MONDO:0011360	biolink:Disease	autosomal recessive nonsyndromic hearing loss 14	An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31.	MESH:C566344|UMLS:C1863613|DOID:0110469|OMIM:603678	mondo.json	autosomal recessive nonsyndromic deafness type 14|autosomal recessive deafness 14|autosomal recessive nonsyndromic deafness 14|deafness, autosomal recessive 14|DFNB14	http://purl.obolibrary.org/obo/MONDO_0011360	DOID:0110469|https://omim.org/entry/603678|UMLS:C1863613|http://identifiers.org/mesh/C566344	
HGNC:10560	biolink:NamedThing	ATXN7			mondo.json		http://identifiers.org/hgnc/10560		
HGNC:10561	biolink:NamedThing	ATXN8OS			mondo.json		http://identifiers.org/hgnc/10561		
MONDO:0011362	biolink:Disease	myopathy, myofibrillar, 9, with early respiratory failure		MESH:C564377|OMIM:603689|SCTID:702373006|UMLS:C1843633|OMIM:607569|MESH:C566343|UMLS:C4518808|GARD:0012591|Orphanet:34521|Orphanet:178464|DOID:0111188|SCTID:733490006|UMLS:C1863599	mondo.json	myofibrillar myopathy with early respiratory failure|HMERF|Edstrom myopathy|myopathy, distal, with early respiratory failure, autosomal dominant|ADMERF|hereditary proximal myopathy with early respiratory failure|hereditary inclusion body myopathy with early respiratory failure|HIBM-ERF|Edström myopathy|HMERF-ERF|distal myopathy with early respiratory muscle involvement|myopathy, proximal, with early respiratory muscle involvement	http://purl.obolibrary.org/obo/MONDO_0011362	http://identifiers.org/mesh/C566343|DOID:0111188|http://identifiers.org/mesh/C564377|https://omim.org/entry/603689|Orphanet:34521|UMLS:C1863599|UMLS:C4518808|https://omim.org/entry/607569|http://identifiers.org/snomedct/702373006|Orphanet:178464	gard_rare|ordo_disease
MONDO:0011361	biolink:Disease	prostate cancer/brain cancer susceptibility		OMIM:603688	mondo.json	Pcbc|prostate cancer/brain cancer susceptibility|prostate cancer/brain cancer susceptibility, somatic|Capb	http://purl.obolibrary.org/obo/MONDO_0011361	https://omim.org/entry/603688	predisposition
HP:0000777	biolink:PhenotypicFeature	Abnormality of the thymus	Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.	UMLS:C0262650|UMLS:C0685891|SNOMEDCT_US:93297002	mondo.json	Abnormality of the thymus	http://purl.obolibrary.org/obo/HP_0000777		
MONDO:0011349	biolink:Disease	osteoma of cranial vault, familial		OMIM:603600|MESH:C566356|UMLS:C1863677	mondo.json	osteoma of cranial vault, familial	http://purl.obolibrary.org/obo/MONDO_0011349	UMLS:C1863677|http://identifiers.org/mesh/C566356|https://omim.org/entry/603600	
MONDO:0037937	biolink:Disease	pyrimidine metabolism disease	A disease that has its basis in the disruption of pyrimidine nucleobase metabolic process.	UMLS:C0268127|SCTID:85444005	mondo.json	disorder of pyrimidine metabolism|disorder of pyrimidine nucleobase metabolic process|pyrimidine nucleobase metabolic process disease	http://purl.obolibrary.org/obo/MONDO_0037937	UMLS:C0268127|http://identifiers.org/snomedct/85444005	
MONDO:0037938	biolink:Disease	inborn disorder of aspartate family metabolism	An inherited metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process.		mondo.json	inborn aspartate family amino acid metabolic process disorder|rare inborn error of aspartate family amino acid metabolic process|inborn error of aspartate family amino acid metabolic process	http://purl.obolibrary.org/obo/MONDO_0037938		
HGNC:10526	biolink:NamedThing	SALL2			mondo.json		http://identifiers.org/hgnc/10526		
MONDO:0037939	biolink:Disease	porphyria	Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS.	SCTID:418470004	mondo.json	porphyria	http://purl.obolibrary.org/obo/MONDO_0037939	http://identifiers.org/snomedct/418470004	
MONDO:0011353	biolink:Disease	atrial septal defect, secundum, with various cardiac and Noncardiac defects		UMLS:C1863648|OMIM:603642|MESH:C566351	mondo.json	atrial septal defect, secundum, with various cardiac and Noncardiac defects	http://purl.obolibrary.org/obo/MONDO_0011353	http://identifiers.org/mesh/C566351|https://omim.org/entry/603642|UMLS:C1863648	
MONDO:0037940	biolink:Disease	inherited auditory system disease	An instance of auditory system disease that is caused by an inherited modification of the individual's genome.	SCTID:362991006|UMLS:C1285174	mondo.json	hereditary auditory system disease|auditory system hereditary disorder|inherited auditory system disease	http://purl.obolibrary.org/obo/MONDO_0037940	UMLS:C1285174|http://identifiers.org/snomedct/362991006	
MONDO:0011352	biolink:Disease	neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia		OMIM:603641|MESH:C566352|UMLS:C1863649	mondo.json	neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia	http://purl.obolibrary.org/obo/MONDO_0011352	http://identifiers.org/mesh/C566352|https://omim.org/entry/603641|UMLS:C1863649	
MONDO:0011355	biolink:Disease	cone-rod dystrophy 7	Any cone-rod dystrophy in which the cause of the disease is a mutation in the RIMS1 gene.	OMIM:603649|MESH:C566350|UMLS:C1863634|DOID:0111012	mondo.json	cone-rod dystrophy 7|RIMS1 cone-rod dystrophy|cone-rod dystrophy type 7|CORD7|cone-rod dystrophy caused by mutation in RIMS1	http://purl.obolibrary.org/obo/MONDO_0011355	http://identifiers.org/mesh/C566350|DOID:0111012|https://omim.org/entry/603649|UMLS:C1863634	
MONDO:0011354	biolink:Disease	situs inversus totalis with cystic dysplasia of kidneys and pancreas		UMLS:C1863647|MESH:C536666|OMIM:603643|GARD:0008567	mondo.json	situs inversus, cystic dysplastic kidney and pancreas, bowed lower limbs,severe intrauterine growth retardation, and oligohydramnios|situs inversus totalis with cystic dysplasia of kidneys and pancreas	http://purl.obolibrary.org/obo/MONDO_0011354	http://identifiers.org/mesh/C536666|https://omim.org/entry/603643|UMLS:C1863647	gard_rare
MONDO:0011357	biolink:Disease	eccrine syringofibroadenomatosis with eyelid abnormalities		OMIM:603669|MESH:C566347|UMLS:C1863618	mondo.json	eccrine syringofibroadenomatosis with eyelid abnormalities	http://purl.obolibrary.org/obo/MONDO_0011357	UMLS:C1863618|http://identifiers.org/mesh/C566347|https://omim.org/entry/603669	
HP:0000774	biolink:PhenotypicFeature	Narrow chest	Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.	UMLS:C0426790|SNOMEDCT_US:249671009	mondo.json	Reduced anterior-posterior chest diameter|Low chest circumference|Narrow shoulders|Narrow thorax|Narrow chest	http://purl.obolibrary.org/obo/HP_0000774		
HGNC:10535	biolink:NamedThing	SAR1B			mondo.json		http://identifiers.org/hgnc/10535		
MONDO:0011356	biolink:Disease	exostosis, Dupuytren subungual		MESH:C535723|OMIM:603656|GARD:0008280|UMLS:C1863622	mondo.json	Dupuytren subungual exostosis|subungual exostoses|exostosis, Dupuytren subungual	http://purl.obolibrary.org/obo/MONDO_0011356	UMLS:C1863622|https://omim.org/entry/603656|http://identifiers.org/mesh/C535723	gard_rare
HGNC:10536	biolink:NamedThing	SARDH			mondo.json		http://identifiers.org/hgnc/10536		
MONDO:0011359	biolink:Disease	acromelic frontonasal dysostosis	Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.	GARD:0005539|MESH:C566345|DOID:0060342|Orphanet:1827|OMIM:603671|SCTID:715427008|UMLS:C1863616|GARD:0002393	mondo.json	acromelic frontonasal dysplasia|acromelic frontonasal dysostosis|AFND|frontonasal dysplasia acromelic|Toriello syndrome	http://purl.obolibrary.org/obo/MONDO_0011359	http://identifiers.org/snomedct/715427008|UMLS:C1863616|http://identifiers.org/mesh/C566345|Orphanet:1827|https://omim.org/entry/603671|DOID:0060342	gard_rare|ordo_malformation_syndrome
MONDO:0011358	biolink:Disease	blue nevi, familial multiple		MESH:C566346|UMLS:C1863617|OMIM:603670	mondo.json	blue nevi, familial multiple	http://purl.obolibrary.org/obo/MONDO_0011358	UMLS:C1863617|http://identifiers.org/mesh/C566346|https://omim.org/entry/603670	
MONDO:0011351	biolink:Disease	autosomal recessive nonsyndromic hearing loss 21	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene.	DOID:0110479|MESH:C566353|OMIM:603629|UMLS:C1863655	mondo.json	TECTA autosomal recessive nonsyndromic deafness|tecta autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness 21|autosomal recessive nonsyndromic deafness caused by mutation in tecta|autosomal recessive nonsyndromic deafness caused by mutation in TECTA|autosomal recessive nonsyndromic deafness type 21|autosomal recessive deafness 21|deafness, autosomal recessive 21|DFNB21|deafness, autosomal recessive type 21	http://purl.obolibrary.org/obo/MONDO_0011351	http://identifiers.org/mesh/C566353|https://omim.org/entry/603629|DOID:0110479|UMLS:C1863655	
MONDO:0011350	biolink:Disease	autosomal dominant nonsyndromic hearing loss 17	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene.	DOID:0110548|GARD:0009726|OMIM:603622	mondo.json	deafness, autosomal dominant 17|deafness, autosomal dominant nonsyndromic sensorineural 17|autosomal dominant deafness 17|autosomal dominant nonsyndromic deafness caused by mutation in MYH9|autosomal dominant nonsyndromic deafness 17|nonsyndromic hereditary deafness DFNA17|DFNA17|cochleosaccular degeneration|late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration|deafness, autosomal dominant type 17|autosomal dominant nonsyndromic deafness type 17|MYH9 autosomal dominant nonsyndromic deafness	http://purl.obolibrary.org/obo/MONDO_0011350	https://omim.org/entry/603622|DOID:0110548	
MONDO:0025986	biolink:Disease	megacystis-microcolon-intestinal hypoperistalsis syndrome		OMIMPS:249210	mondo.json		http://purl.obolibrary.org/obo/MONDO_0025986	https://omim.org/phenotypicSeries/PS249210	
MONDO:0011339	biolink:Disease	hereditary spastic paraplegia 8	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene.	MESH:C580458|Orphanet:100989|UMLS:C1863704|GARD:0009591|DOID:0110823|OMIM:603563	mondo.json	hereditary spastic paraplegia type 8|autosomal dominant spastic paraplegia 8|spastic paraplegia 8|SPG8|spastic paraplegia 8, autosomal dominant|hereditary spastic paraplegia caused by mutation in WASHC5|WASHC5 hereditary spastic paraplegia|autosomal dominant spastic paraplegia type 8	http://purl.obolibrary.org/obo/MONDO_0011339	UMLS:C1863704|Orphanet:100989|https://omim.org/entry/603563|http://identifiers.org/mesh/C580458|DOID:0110823	ordo_disease
HP:0000789	biolink:PhenotypicFeature	Infertility		UMLS:C0021359|SNOMEDCT_US:15296000|MSH:D007246|SNOMEDCT_US:8619003	mondo.json	Infertility	http://purl.obolibrary.org/obo/HP_0000789		
MONDO:0011338	biolink:Disease	Omenn syndrome	An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID).	SCTID:722067005|MedDRA:10069097|NCIT:C61240|GARD:0008198|OMIM:603554|DOID:0060010|UMLS:C1801959|Orphanet:39041	mondo.json	Omenn syndrome|reticuloendotheliosis, familial, with eosinophilia|reticuloendotheliosis familial with eosinophilia|combined immunodeficiency with hypereosinophilia|severe combined immunodeficiency with hypereosinophilia	http://purl.obolibrary.org/obo/MONDO_0011338	Orphanet:39041|NCIT:C61240|https://omim.org/entry/603554|UMLS:C1801959|DOID:0060010|http://identifiers.org/snomedct/722067005	ordo_disease|gard_rare
MONDO:0011342	biolink:Disease	SLC35A1-congenital disorder of glycosylation	SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.	DOID:0070258|UMLS:C1970344|Orphanet:238459|OMIM:603585|GARD:0012409|SCTID:723624008|MESH:C567040	mondo.json	congenital disorder of glycosylation, type IIf|congenital disorder of glycosylation type IIf|CDG syndrome type IIf|congenital disorder of glycosylation type 2f|SLC35A1-CDG|CDG-IIf|carbohydrate deficient glycoprotein syndrome type IIf|CDG2F|SLC35A1-congenital disorder of glycosylation|CDG IIf|SLC35A1-CDG (CDG-IIf)|CMP-sialic acid transporter deficiency	http://purl.obolibrary.org/obo/MONDO_0011342	http://identifiers.org/mesh/C567040|http://identifiers.org/snomedct/723624008|Orphanet:238459|https://omim.org/entry/603585|DOID:0070258|UMLS:C1970344	ordo_disease
HGNC:10542	biolink:NamedThing	SBF1			mondo.json		http://identifiers.org/hgnc/10542		
MONDO:0011341	biolink:Disease	microcephaly, facial abnormalities, micromelia, and intellectual disability		OMIM:603572|MESH:C566361|UMLS:C1863702	mondo.json	microcephaly, facial abnormalities, micromelia, and intellectual disability|microcephaly, facial abnormalities, micromelia, and mental retardation	http://purl.obolibrary.org/obo/MONDO_0011341	UMLS:C1863702|http://identifiers.org/mesh/C566361|https://omim.org/entry/603572	
MONDO:0011344	biolink:Disease	parotitis, juvenile recurrent		UMLS:C1863691|MESH:C566359|OMIM:603588	mondo.json	parotitis, juvenile recurrent	http://purl.obolibrary.org/obo/MONDO_0011344	UMLS:C1863691|http://identifiers.org/mesh/C566359|https://omim.org/entry/603588	
HGNC:10540	biolink:NamedThing	SAT1			mondo.json		http://identifiers.org/hgnc/10540		
MONDO:0011343	biolink:Disease	follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts		OMIM:603587|MESH:C566360|UMLS:C1863692	mondo.json	follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts	http://purl.obolibrary.org/obo/MONDO_0011343	UMLS:C1863692|http://identifiers.org/mesh/C566360|https://omim.org/entry/603587	
MONDO:0011346	biolink:Disease	xanthinuria type II	Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.	UMLS:C1863688|MESH:C566358|GARD:0005620|OMIM:603592|Orphanet:93602	mondo.json	type II xanthinuria|xanthinuria type 2|xanthinuria, type 2|xanthine dehydrogenase and aldehyde oxidase combined deficiency of|XDH and AOX dual deficiency|xanthinuria, type II|XAN2|type 2 xanthinuria|xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency|xanthine dehydrogenase and aldehyde oxidase, combined deficiency of	http://purl.obolibrary.org/obo/MONDO_0011346	Orphanet:93602|UMLS:C1863688|http://identifiers.org/mesh/C566358|https://omim.org/entry/603592	ordo_etiological_subtype|gard_rare
MONDO:0011345	biolink:Disease	facial dysmorphism, selective tooth agenesis, and choroid calcification		MESH:C567039|OMIM:603589|UMLS:C1970343	mondo.json	facial dysmorphism, selective tooth agenesis, and choroid calcification	http://purl.obolibrary.org/obo/MONDO_0011345	UMLS:C1970343|http://identifiers.org/mesh/C567039|https://omim.org/entry/603589	
HP:0009118	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the mandible	Absence or underdevelopment of the mandible.	UMLS:C4280401|UMLS:C3494426|UMLS:C4024589|UMLS:C4280261|MSH:D063173|UMLS:C4021371	mondo.json		http://purl.obolibrary.org/obo/HP_0009118		
HGNC:10547	biolink:NamedThing	SC5D			mondo.json		http://identifiers.org/hgnc/10547		
MONDO:0011348	biolink:Disease	non-syndromic polydactyly	A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.	Orphanet:2913|MedDRA:10036063|GARD:0004410	mondo.json	isolated polydactyly|supernumerary digits|Extra digits|nonsyndromic polydactyly (disease)|polydactylia|nonsyndromic polydactyly|isolated polydactyly (disease)	http://purl.obolibrary.org/obo/MONDO_0011348	Orphanet:2913	disease_grouping|ordo_group_of_disorders
CHEBI:66956	biolink:ChemicalSubstance	antidyskinesia agent	Any compound which can be used to treat or alleviate the symptoms of dyskinesia.		mondo.json	antidyskinesia drugs|antidyskinesia drug|antidyskinesia agents|antidyskinetic drug|antidyskinetic agent|antidyskinetic agents|antidyskinetic drugs	http://purl.obolibrary.org/obo/CHEBI_66956		
MONDO:0011347	biolink:Disease	craniosynostosis with ectopia lentis		UMLS:C1863678|MESH:C566357|OMIM:603595	mondo.json	craniosynostosis with ectopia lentis	http://purl.obolibrary.org/obo/MONDO_0011347	UMLS:C1863678|http://identifiers.org/mesh/C566357|https://omim.org/entry/603595	
HGNC:10545	biolink:NamedThing	MSMO1			mondo.json		http://identifiers.org/hgnc/10545		
HP:0009115	biolink:PhenotypicFeature	Aplasia/hypoplasia involving the skeleton	Absence (due to failure to form) or underdevelopment of one or more components of the skeleton.	UMLS:C4024592	mondo.json	Absent/small skeleton|Absent/underdeveloped skeleton	http://purl.obolibrary.org/obo/HP_0009115		
HP:0012757	biolink:PhenotypicFeature	Abnormal neuron morphology	A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions.	UMLS:C4022739	mondo.json	Abnormal neuron shape|Abnormal neuronal morphology	http://purl.obolibrary.org/obo/HP_0012757		
HP:0012758	biolink:PhenotypicFeature	Neurodevelopmental delay	Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.	UMLS:C4022738	mondo.json	NDD	http://purl.obolibrary.org/obo/HP_0012758		
HP:0009116	biolink:PhenotypicFeature	Aplasia/Hypoplasia involving bones of the skull		UMLS:C4024591	mondo.json		http://purl.obolibrary.org/obo/HP_0009116		
HP:0012759	biolink:PhenotypicFeature	Neurodevelopmental abnormality	A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.	UMLS:C4022737	mondo.json		http://purl.obolibrary.org/obo/HP_0012759		
MONDO:0011340	biolink:Disease	congenital tracheal stenosis		GARD:0012008|OMIM:603569|Orphanet:141127|MESH:C566362|SCTID:9660004|ICD9:748.3	mondo.json	tracheobronchial stenosis, congenital	http://purl.obolibrary.org/obo/MONDO_0011340	http://identifiers.org/snomedct/9660004|http://identifiers.org/mesh/C566362|https://omim.org/entry/603569|Orphanet:141127	gard_rare|ordo_morphological_anomaly
MONDO:0013909	biolink:Disease	human herpesvirus 8, susceptibility to		OMIM:614836	mondo.json	HHV8S|HUMAN HERPESVIRUS 8, susceptibility to|HHV-8, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0013909	https://omim.org/entry/614836	
MONDO:0001921	biolink:Disease	chronic atticoantral disease	A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection.	UMLS:C0565831|UMLS:C0155441|SCTID:267759006|ICD9:382.2|DOID:14248	mondo.json	chronic atticoantral suppurative otitis media	http://purl.obolibrary.org/obo/MONDO_0001921	DOID:14248|http://identifiers.org/snomedct/267759006|UMLS:C0565831|UMLS:C0155441	
MONDO:0001920	biolink:Disease	chronic purulent otitis media	Otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane.	ICD9:382.3|SCTID:38394007|UMLS:C0271454|NCIT:C128386|DOID:14247	mondo.json	chronic suppurative otitis Media|suppurative otitis media, chronic|CSOM|chronic suppurative otitis media	http://purl.obolibrary.org/obo/MONDO_0001920	UMLS:C0271454|http://identifiers.org/snomedct/38394007|NCIT:C128386|DOID:14247	
MONDO:0013903	biolink:Disease	nystagmus 7, congenital, autosomal dominant		OMIM:614826|UMLS:C3553801	mondo.json	NYS7|NYSTAGMUS 7, congenital, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0013903	UMLS:C3553801|https://omim.org/entry/614826	
CL:0000402	biolink:Cell	CNS interneuron			mondo.json		http://purl.obolibrary.org/obo/CL_0000402		
MONDO:0013904	biolink:Disease	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene.	Orphanet:899|DOID:0111231|UMLS:C3553813|OMIM:614830	mondo.json	MDDGA8|muscle-eye-brain-POMGNT2 related|POMGNT2 muscular dystrophy-dystroglycanopathy, type A|muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8|Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related	http://purl.obolibrary.org/obo/MONDO_0013904	DOID:0111231|https://omim.org/entry/614830|UMLS:C3553813	
MONDO:0013901	biolink:Disease	spermatogenic failure 10	Any azoospermia in which the cause of the disease is a mutation in the SEPT12 gene.	OMIM:614822|DOID:0070178|UMLS:C3553793	mondo.json	SEPT12 azoospermia|SPGF10|spermatogenic failure with defective sperm annulus|spermatogenic failure type 10|azoospermia caused by mutation in SEPT12|spermatogenic failure 10	http://purl.obolibrary.org/obo/MONDO_0013901	UMLS:C3553793|https://omim.org/entry/614822|DOID:0070178	
CL:0000404	biolink:Cell	electrically signaling cell	A cell that initiates an electrical signal and passes that signal to another cell.		mondo.json		http://purl.obolibrary.org/obo/CL_0000404		
MONDO:0013902	biolink:Disease	aortic valve disease 2	Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.	DOID:0080334|OMIM:614823|UMLS:C3542024	mondo.json	aortic valve stenosis|aortic valve disease type 2|AOVD2|bicuspid aortic valve|aortic valve disease 2|SMAD6 aortic valve disease|aortic valve disease caused by mutation in SMAD6	http://purl.obolibrary.org/obo/MONDO_0013902	DOID:0080334|UMLS:C3542024|https://omim.org/entry/614823	
MONDO:0013907	biolink:Disease	bilateral generalized polymicrogyria	Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person.	GARD:0010786|UMLS:C3553831|Orphanet:208447	mondo.json	polymicrogyria with seizures|bilateral generalized polymicrogyria|microcephaly, short stature, and polymicrogyria with or without seizures|bilateral generalised polymicrogyria|microcephaly, short stature, and polymicrogyria with seizures|MSSP|PMGYS	http://purl.obolibrary.org/obo/MONDO_0013907	Orphanet:208447|UMLS:C3553831	gard_rare|ordo_clinical_subtype
MONDO:0013908	biolink:Disease	thyrotoxic periodic paralysis, susceptibility to, 3		OMIM:614834	mondo.json	TTPP3|thyrotoxic periodic paralysis, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0013908	https://omim.org/entry/614834	predisposition
MONDO:0013905	biolink:Disease	autosomal recessive spinocerebellar ataxia 13	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.	UMLS:C3553816|Orphanet:324262|OMIM:614831|DOID:0080062	mondo.json	GRM1 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome|autosomal recessive spinocerebellar ataxia 13|GRM1 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome|autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency|spinocerebellar ataxia, autosomal recessive 13|autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency|autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRM1|autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRM1|autosomal recessive spinocerebellar ataxia type 13|spinocerebellar ataxia, autosomal recessive type 13|SCAR13	http://purl.obolibrary.org/obo/MONDO_0013905	DOID:0080062|UMLS:C3553816|Orphanet:324262|https://omim.org/entry/614831	ordo_clinical_subtype
CL:0000408	biolink:Cell	male gamete		BTO:0001277|CALOHA:TS-0949	mondo.json		http://purl.obolibrary.org/obo/CL_0000408		
MONDO:0013906	biolink:Disease	amelogenesis imperfecta hypomaturation type 2A4	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene.	OMIM:614832|DOID:0110062|UMLS:C3553830	mondo.json	amelogenesis imperfecta caused by mutation in ODAPH|AI2A4|amelogenesis imperfecta, type IIA4|amelogenesis imperfecta hypomaturation type IIA4|amelogenesis imperfecta type IIA4|ODAPH amelogenesis imperfecta|amelogenesis imperfecta, hypomaturation type, IIA4	http://purl.obolibrary.org/obo/MONDO_0013906	DOID:0110062|https://omim.org/entry/614832|UMLS:C3553830	
UBERON:0007135	biolink:AnatomicalEntity	neural keel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007135		
UBERON:0007134	biolink:AnatomicalEntity	trunk ganglion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007134		
MONDO:0001919	biolink:Disease	cystoid macular retinal degeneration		ICD9:362.53|DOID:14245|SCTID:14046000|UMLS:C0154850	mondo.json	cystoid macular degeneration of retina	http://purl.obolibrary.org/obo/MONDO_0001919	UMLS:C0154850|http://identifiers.org/snomedct/14046000|DOID:14245	
MONDO:0013910	biolink:Disease	hypogonadotropic hypogonadism 8 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1R gene.	ICD10CM:E23.0|DOID:0090074|UMLS:C3553841|OMIM:614837	mondo.json	hypogonadotropic hypogonadism 8 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in KISS1R|KISS1R hypogonadotropic hypogonadism|HH8	http://purl.obolibrary.org/obo/MONDO_0013910	DOID:0090074|https://omim.org/entry/614837|UMLS:C3553841	
MONDO:0013911	biolink:Disease	hypogonadotropic hypogonadism 9 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the NSMF gene.	ICD10CM:E23.0|DOID:0090085|UMLS:C3553842|OMIM:614838	mondo.json	hypogonadotropic hypogonadism 9 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in NSMF|HH9|NSMF hypogonadotropic hypogonadism	http://purl.obolibrary.org/obo/MONDO_0013911	DOID:0090085|UMLS:C3553842|https://omim.org/entry/614838	
MONDO:0001914	biolink:Disease	scleromalacia perforans	A rare form of necrotizing anterior scleritis without pain in which the sclera is notably white, avascular and thin. Both choroidal exposure and staphyloma formation may occur.	DOID:14230|SCTID:26664005|UMLS:C0155354|ICD9:379.04	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001914	http://identifiers.org/snomedct/26664005|DOID:14230|UMLS:C0155354	
MONDO:0001913	biolink:Disease	oligospermia	Decreased number of spermatozoa in the semen.	ICD9:606.1|MESH:D009845|UMLS:C0028960|HP:0000798|DOID:14228	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001913	UMLS:C0028960|http://identifiers.org/mesh/D009845|DOID:14228	
MONDO:0001912	biolink:Disease	acute frontal sinusitis	Acute form of frontal sinusitis.	ICD9:461.1|ICD10CM:J01.1|SCTID:91038008|UMLS:C0155805|DOID:14225	mondo.json	frontal sinusitis, acute	http://purl.obolibrary.org/obo/MONDO_0001912	DOID:14225|http://purl.bioontology.org/ontology/ICD10CM/J01.1|UMLS:C0155805|http://identifiers.org/snomedct/91038008	
CHEBI:15366	biolink:ChemicalSubstance	acetic acid	A simple monocarboxylic acid containing two carbons.		mondo.json	acide acetique|E 260|CH3CO2H|MeCOOH|Methanecarboxylic acid|ethoic acid|AcOH|Ethanoic acid|MeCO2H|HOAc|Ethylic acid|INS No. 260|E260|Acetic acid|ACETIC ACID|acetic acid|CH3-COOH|Essigsaeure|E-260	http://purl.obolibrary.org/obo/CHEBI_15366		
MONDO:0001911	biolink:Disease	tracheal calcification	Abnormal deposits of calcium in the tracheal tissue.	UMLS:C0264324|SCTID:81089005|HP:0002787|ICD9:519.19|DOID:14224	mondo.json	calcification of trachea	http://purl.obolibrary.org/obo/MONDO_0001911	http://identifiers.org/snomedct/81089005|DOID:14224|UMLS:C0264324	
CHEBI:15365	biolink:ChemicalSubstance	acetylsalicylic acid	A member of the class of benzoic acids that is salicylic acid in which the hydrogen that is attached to the phenolic hydroxy group has been replaced by an acetoxy group. A non-steroidal anti-inflammatory drug with cyclooxygenase inhibitor activity.		mondo.json	2-(acetyloxy)benzoic acid|Acetylsalicylic acid|2-Acetoxybenzenecarboxylic acid|ASA|Easprin|acidum acetylsalicylicum|2-(ACETYLOXY)BENZOIC ACID|Aspirin|acido acetilsalicilico|Acetylsalicylate|O-acetylsalicylic acid|o-carboxyphenyl acetate|salicylic acid acetate|Azetylsalizylsaeure|Acetylsalicylsaeure|2-acetoxybenzoic acid|acide acetylsalicylique|acide 2-(acetyloxy)benzoique|o-acetoxybenzoic acid	http://purl.obolibrary.org/obo/CHEBI_15365		
MONDO:0001918	biolink:Disease	epiphora due to excess lacrimation		DOID:14244|ICD9:375.21|UMLS:C0155233|SCTID:31788005	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001918	DOID:14244|http://identifiers.org/snomedct/31788005|UMLS:C0155233	
MONDO:0001917	biolink:Disease	chronic perichondritis of pinna	Chronic form of perichondritis of auricle.	UMLS:C0155391|DOID:14243|SCTID:45431004|ICD9:380.02	mondo.json	perichondritis of auricle, chronic|chronic pinna perichondritis|chronic perichondritis of auricle	http://purl.obolibrary.org/obo/MONDO_0001917	http://identifiers.org/snomedct/45431004|DOID:14243|UMLS:C0155391	
MONDO:0001916	biolink:Disease	gastrointestinal tularemia	A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting.	ICD10CM:A21.3|ICD9:021.1|ICD9:021.8|DOID:14239	mondo.json	intestinal tularaemia|enteric tularemia	http://purl.obolibrary.org/obo/MONDO_0001916	DOID:14239|http://purl.bioontology.org/ontology/ICD10CM/A21.3	
MONDO:0001915	biolink:Disease	orbital cyst		HP:0001144|SCTID:31021007|DOID:14233|ICD9:376.81|UMLS:C0155285	mondo.json	orbit cyst	http://purl.obolibrary.org/obo/MONDO_0001915	DOID:14233|UMLS:C0155285|http://identifiers.org/snomedct/31021007	
MONDO:0001932	biolink:Disease	obsolete atrophic vulva		ICD9:624.1|SCTID:248861000|ICD10CM:N90.5|UMLS:C0156393|DOID:14275	mondo.json	atrophic vulva|atrophic vulvitis|atrophy of vulva	http://purl.obolibrary.org/obo/MONDO_0001932	DOID:14275|UMLS:C0156393|http://identifiers.org/snomedct/248861000|http://purl.bioontology.org/ontology/ICD10CM/N90.5	
CHEBI:27369	biolink:ChemicalSubstance	zwitterion	A neutral compound having formal unit electrical charges of opposite sign on non-adjacent atoms. Sometimes referred to as inner salts, dipolar ions (a misnomer).		mondo.json	zwitterionic compounds|zwitteriones|zwitterions|compuestos zwitterionicos|compose zwitterionique|zwitterion	http://purl.obolibrary.org/obo/CHEBI_27369		
MONDO:0001931	biolink:Disease	pericholangitis	Inflammation of the tissue surrounding the biliary ducts.	DOID:14272|SCTID:111373008|UMLS:C0031052|NCIT:C34916	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001931	DOID:14272|NCIT:C34916|http://identifiers.org/snomedct/111373008|UMLS:C0031052	
MONDO:0001930	biolink:Disease	acute cholangitis	Cholangitis that is both sudden in onset and of a relatively short duration.	DOID:14271|SCTID:6215006|NCIT:C35334|UMLS:C0267917	mondo.json	cholangitis, acute|acute cholangitis	http://purl.obolibrary.org/obo/MONDO_0001930	UMLS:C0267917|http://identifiers.org/snomedct/6215006|DOID:14271|NCIT:C35334	
CL:0000413	biolink:Cell	haploid cell	A cell whose nucleus contains a single haploid genome.		mondo.json		http://purl.obolibrary.org/obo/CL_0000413		
CL:0000417	biolink:Cell	endopolyploid cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000417		
UBERON:0034763	biolink:AnatomicalEntity	hindbrain commissure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034763		
UBERON:0034764	biolink:AnatomicalEntity	remnant of cardiac valve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034764		
HGNC:10519	biolink:NamedThing	SACS			mondo.json		http://identifiers.org/hgnc/10519		
CHEBI:27363	biolink:ChemicalSubstance	zinc atom			mondo.json	Zn2+|zincum|Zink|cinc|zinc|Zn(II)|Zn|zinc|30Zn	http://purl.obolibrary.org/obo/CHEBI_27363		
UBERON:0007125	biolink:AnatomicalEntity	pharyngeal pouch 4			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007125		
HGNC:5433	biolink:NamedThing	IFNAR2			mondo.json		http://identifiers.org/hgnc/5433		
HGNC:10521	biolink:NamedThing	SAG			mondo.json		http://identifiers.org/hgnc/10521		
UBERON:0007124	biolink:AnatomicalEntity	pharyngeal pouch 3			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007124		
UBERON:0007123	biolink:AnatomicalEntity	pharyngeal pouch 2			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007123		
UBERON:0007122	biolink:AnatomicalEntity	pharyngeal pouch 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007122		
HGNC:10524	biolink:NamedThing	SALL1			mondo.json		http://identifiers.org/hgnc/10524		
MONDO:0013900	biolink:Disease	alternating hemiplegia of childhood 2	Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene.	UMLS:C3553788|OMIM:614820	mondo.json	alternating hemiplegia of childhood type 2|alternating hemiplegia of childhood 2|AHC2|ATP1A3 alternating hemiplegia of childhood|alternating hemiplegia of childhood caused by mutation in ATP1A3	http://purl.obolibrary.org/obo/MONDO_0013900	https://omim.org/entry/614820|UMLS:C3553788	
HGNC:5438	biolink:NamedThing	IFNG			mondo.json		http://identifiers.org/hgnc/5438		
HGNC:5439	biolink:NamedThing	IFNGR1			mondo.json		http://identifiers.org/hgnc/5439		
CL:0000412	biolink:Cell	polyploid cell	A cell whose nucleus, or nuclei, each contain more than two haploid genomes.		mondo.json		http://purl.obolibrary.org/obo/CL_0000412		
MONDO:0001925	biolink:Disease	retinal dystrophy in systemic or cerebroretinal lipidoses		DOID:14253|ICD9:362.71	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001925	DOID:14253	
MONDO:0001924	biolink:Disease	dystrophies primarily involving the retinal pigment epithelium		DOID:14252|ICD9:362.76|ICD10CM:H35.54	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001924	DOID:14252|http://purl.bioontology.org/ontology/ICD10CM/H35.54	
MONDO:0001923	biolink:Disease	vitreoretinal dystrophy		DOID:14251|SCTID:79556007|UMLS:C0154863|ICD9:362.73|ICD10CM:H35.51	mondo.json	vitreoretinal dystrophies	http://purl.obolibrary.org/obo/MONDO_0001923	DOID:14251|http://identifiers.org/snomedct/79556007|UMLS:C0154863|http://purl.bioontology.org/ontology/ICD10CM/H35.51	
MONDO:0001922	biolink:Disease	pyoureter	An abscess that is located in the ureter.	DOID:1425|ICD9:593.89|SCTID:85884009|NCIT:C35666|UMLS:C0034223	mondo.json	ureter abscess	http://purl.obolibrary.org/obo/MONDO_0001922	NCIT:C35666|UMLS:C0034223|DOID:1425|http://identifiers.org/snomedct/85884009	
MONDO:0001929	biolink:Disease	ascending cholangitis	Acute infection of the bile ducts caused by bacteria ascending from the small intestine.	NCIT:C35372|SCTID:26918003|DOID:14270|UMLS:C0311273	mondo.json	ascending cholangitis	http://purl.obolibrary.org/obo/MONDO_0001929	NCIT:C35372|http://identifiers.org/snomedct/26918003|DOID:14270|UMLS:C0311273	
MONDO:0001928	biolink:Disease	suppurative cholangitis	Cholangitis that is characterized by pyogenic organisms.	UMLS:C0267924|NCIT:C35336|SCTID:69850007|DOID:14269	mondo.json	suppurative cholangitis	http://purl.obolibrary.org/obo/MONDO_0001928	NCIT:C35336|UMLS:C0267924|http://identifiers.org/snomedct/69850007|DOID:14269	
UBERON:0007128	biolink:AnatomicalEntity	glomeral mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007128		
MONDO:0001927	biolink:Disease	pulmonary valve insufficiency	Dysfunction of the pulmonary valve characterized by incomplete valve closure.	DOID:14265|MESH:D011665|NCIT:C50848|SCTID:194995005	mondo.json	regurgitation, pulmonary|pulmonary regurg.|pulmonary incompetence|pulmonary valve regurgitation|pulmonary regurgitation|pulmonary insufficiency following trauma and surgery|pulmonic insufficiency|pulmonary incompetence, non-rheumatic|pulmonic valve regurgitation|pulmonary valvular regurgitation	http://purl.obolibrary.org/obo/MONDO_0001927	http://identifiers.org/snomedct/194995005|DOID:14265|NCIT:C50848|http://identifiers.org/mesh/D011665	
MONDO:0001926	biolink:Disease	ureteral disorder	A non-neoplastic or neoplastic disorder affecting the ureter.	DOID:1426|SCTID:128073008|MESH:D014515|NCIT:C27148|UMLS:C0403608|UMLS:C0041954	mondo.json	ureter disease or disorder|ureter disorder|disorder of ureter|disease of ureter|disease or disorder of ureter|ureteric disease|ureter disease|ureteric disorder	http://purl.obolibrary.org/obo/MONDO_0001926	http://identifiers.org/mesh/D014515|http://identifiers.org/snomedct/128073008|NCIT:C27148|UMLS:C0403608|UMLS:C0041954|DOID:1426	
NCBITaxon:5600	biolink:OrganismalEntity	Phialophora		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5600		
CHEBI:30985	biolink:ChemicalSubstance	4,4'-bipyridine	A  bipyridine in which the two pyridine moieties are linked by a bond between positions C-4 and C-4'.		mondo.json	4,4'-bipyridyl|gamma,gamma'-dipyridyl|4,4'-bipyridine|4,4'-bpy|gamma,gamma'-bipyridyl|4-(4-pyridyl)pyridine|4,4'-dipyridine|4,4-Bipyridin|4,4'-dipyridyl	http://purl.obolibrary.org/obo/CHEBI_30985		
UBERON:0034770	biolink:AnatomicalEntity	bulbourethral gland epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034770		
NCBITaxon:27592	biolink:OrganismalEntity	Bovinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_27592		
NCBITaxon:197911	biolink:OrganismalEntity	Alphainfluenzavirus		GC_ID:1	mondo.json	Influenzavirus A	http://purl.obolibrary.org/obo/NCBITaxon_197911		
NCBITaxon:197912	biolink:OrganismalEntity	Betainfluenzavirus		GC_ID:1	mondo.json	Influenzavirus B	http://purl.obolibrary.org/obo/NCBITaxon_197912		
NCBITaxon:197913	biolink:OrganismalEntity	Gammainfluenzavirus		GC_ID:1	mondo.json	Influenzavirus C	http://purl.obolibrary.org/obo/NCBITaxon_197913		
UBERON:0010760	biolink:AnatomicalEntity	supraglenoid tubercle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010760		
CHEBI:39317	biolink:ChemicalSubstance	growth regulator	Any chemical substance that inhibits the life-cycle of an organism.		mondo.json	growth regulators	http://purl.obolibrary.org/obo/CHEBI_39317		
GO:1904100	biolink:NamedThing	positive regulation of protein O-linked glycosylation	Any process that activates or increases the frequency, rate or extent of protein O-linked glycosylation.		mondo.json	up-regulation of protein amino acid O-linked glycosylation|up regulation of protein amino acid O-linked glycosylation|upregulation of protein O-linked glycosylation|activation of protein amino acid O-linked glycosylation|positive regulation of protein amino acid O-linked glycosylation|upregulation of protein amino acid O-linked glycosylation|up regulation of protein O-linked glycosylation|up-regulation of protein O-linked glycosylation|activation of protein O-linked glycosylation	http://purl.obolibrary.org/obo/GO_1904100		
UBERON:0009778	biolink:AnatomicalEntity	pleural sac			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009778		
UBERON:0034768	biolink:AnatomicalEntity	morphological feature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034768		
UBERON:0034769	biolink:AnatomicalEntity	lymphomyeloid tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034769		
UBERON:0010758	biolink:AnatomicalEntity	subdivision of organism along appendicular axis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010758		
NCBITaxon:689831	biolink:OrganismalEntity	Spinareovirinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_689831		
UBERON:0007119	biolink:AnatomicalEntity	neck of femur			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007119		
UBERON:0009773	biolink:AnatomicalEntity	renal tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009773		
UBERON:0007118	biolink:AnatomicalEntity	umbilicus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007118		
HGNC:5440	biolink:NamedThing	IFNGR2			mondo.json		http://identifiers.org/hgnc/5440		
MONDO:0001910	biolink:Disease	ochronosis disorder	A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis.	MESH:D009794|DOID:14223|GARD:0007231|HP:0030764|NCIT:C84938|UMLS:C0028817|ICD9:270.2|SCTID:410042009	mondo.json	ochronosis	http://purl.obolibrary.org/obo/MONDO_0001910	NCIT:C84938|UMLS:C0028817|DOID:14223|http://identifiers.org/mesh/D009794|http://identifiers.org/snomedct/410042009	
UBERON:0010744	biolink:AnatomicalEntity	sacral vertebra pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010744		
UBERON:0010745	biolink:AnatomicalEntity	sacral vertebra cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010745		
UBERON:0009767	biolink:AnatomicalEntity	proximal interphalangeal joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009767		
MONDO:0001909	biolink:Disease	renal tubular acidosis	A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets.	ICD9:588.89|UMLS:C0001126|GARD:0007552|MESH:D000141|SCTID:1776003|DOID:14219	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001909	UMLS:C0001126|http://identifiers.org/mesh/D000141|DOID:14219|http://identifiers.org/snomedct/1776003	gard_rare
UBERON:0009768	biolink:AnatomicalEntity	distal interphalangeal joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009768		
UBERON:0010742	biolink:AnatomicalEntity	bone of pelvic complex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010742		
MONDO:0001908	biolink:Disease	obsolete hypophosphatasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001908		
UBERON:0007100	biolink:AnatomicalEntity	primary circulatory organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007100		
UBERON:0010743	biolink:AnatomicalEntity	meningeal cluster			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010743		
CHEBI:15379	biolink:ChemicalSubstance	dioxygen			mondo.json	O2|E 948|[OO]|molecular oxygen|dioxygene|Oxygen|Disauerstoff|dioxygen|E948|OXYGEN MOLECULE|E-948	http://purl.obolibrary.org/obo/CHEBI_15379		
CHEBI:6121	biolink:ChemicalSubstance	ketamine	A member of the class of cyclohexanones in which one of the hydrogens at position 2 is substituted by a 2-chlorophenyl group, while the other is substituted by a methylamino group.		mondo.json	2-(methylamino)-2-(2-chlorophenyl)cyclohexanone|2-(o-chlorophenyl)-2-(methylamino)-cyclohexanone|dl-ketamine|Ketamine|KETAMINE|DL-ketamine|2-(2-Chloro-phenyl)-2-methylamino-cyclohexanone|NMDA|ketamine|(+-)-ketamine|ketamina|special K|ketaminum|2-(2-chlorophenyl)-2-(methylamino)cyclohexanone	http://purl.obolibrary.org/obo/CHEBI_6121		
MONDO:0001903	biolink:Disease	calcific tendinitis		UMLS:C0521515|ICD10CM:M65.2|SCTID:95414005|DOID:14181|ICD9:726.11	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001903	UMLS:C0521515|http://purl.bioontology.org/ontology/ICD10CM/M65.2|DOID:14181|http://identifiers.org/snomedct/95414005	
MONDO:0001902	biolink:Disease	congenital agammaglobulinemia	An instance of agammaglobulinemia that is present from birth.	DOID:14177|ICD9:279.04|UMLS:C1457897	mondo.json	congenital hypogammaglobulinemia (finding)|congenital agammaglobulinemia|congenital hypogammaglobulinaemia	http://purl.obolibrary.org/obo/MONDO_0001902	DOID:14177|UMLS:C1457897	
CHEBI:15377	biolink:ChemicalSubstance	water	An oxygen hydride consisting of an oxygen atom that is covalently bonded to two hydrogen atoms.		mondo.json	hydrogen hydroxide|agua|HOH|dihydridooxygen|[OH2]|aqua|water|WATER|Water|acqua|oxidane|eau|Wasser|dihydrogen oxide|H2O|BOUND WATER	http://purl.obolibrary.org/obo/CHEBI_15377		
MONDO:0001901	biolink:Disease	selective IgG subclass deficiency	A classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the four immunoglobulin class G (IgG) subclasses. Selective IgG1 deficiency is rare and primarily decreases the immune response to bacterial protein antigens. Selective IgG2 deficiency is the most common subclass deficiency among children and primarily leads to an inadequate response to bacterial polysaccharide antigens. Selective IgG3 deficiency is the most common subclass deficiency among adults and also primarily lowers the response to bacterial proteins. Selective IgG4 deficiency may be a clinically insignificant developmental variant, as IgG4 is a subclass that is virtually undetectable until the end of the first decade of life. Low levels of any IgG subclass will reduce the immune system's effectiveness and thus the clinical presentation of these diseases is usually recurrent infection, particularly by encapsulated bacteria.	NCIT:C27024|MESH:D017099|DOID:14176|SCTID:190981001|ICD9:279.03	mondo.json	selective immunoglobulin G deficiency|selective IgG deficiency disease|selective IgG immunodeficiency|selective Immunoglobulin G subclass deficiency|selective deficiency of IgG|Immunoglobin G subclass deficiency	http://purl.obolibrary.org/obo/MONDO_0001901	DOID:14176|NCIT:C27024|http://identifiers.org/mesh/D017099|http://identifiers.org/snomedct/190981001	
MONDO:0001900	biolink:Disease	obsolete central neurocytoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001900		
MONDO:0001907	biolink:Disease	adult dermatomyositis	Dermatomyositis in an adult.	DOID:14202|SCTID:402425006|NCIT:C27313	mondo.json	adult onset dermatomyositis|dermatomyositis of adults	http://purl.obolibrary.org/obo/MONDO_0001907	http://identifiers.org/snomedct/402425006|DOID:14202|NCIT:C27313	
MONDO:0001906	biolink:Disease	posterior dislocation of lens		UMLS:C0155373|ICD9:379.34|DOID:14199|SCTID:14169000	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001906	http://identifiers.org/snomedct/14169000|DOID:14199|UMLS:C0155373	
UBERON:0007106	biolink:AnatomicalEntity	chorionic villus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007106		
MONDO:0001905	biolink:Disease	bicipital tenosynovitis		UMLS:C0158304|ICD9:726.12|SCTID:41137001|DOID:14192	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001905	http://identifiers.org/snomedct/41137001|UMLS:C0158304|DOID:14192	
UBERON:0007105	biolink:AnatomicalEntity	vitelline duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007105		
CHEBI:15372	biolink:ChemicalSubstance	5,6,7,8-tetrahydrobiopterin			mondo.json	2-amino-6-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydropteridin-4(3H)-one|Tetrahydrobiopterin|5,6,7,8-Tetrahydrobiopterin|BH4|5,6,7,8-tetrahydrobiopterin|5,6,7,8-TETRAHYDROBIOPTERIN|2-Amino-6-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydoro-4(1H)-pteridinone	http://purl.obolibrary.org/obo/CHEBI_15372		
MONDO:0001904	biolink:Disease	polyneuropathy due to drug		ICD9:357.6|DOID:14184|SCTID:7339009|UMLS:C0154762	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001904	UMLS:C0154762|http://identifiers.org/snomedct/7339009|DOID:14184	
MONDO:0001961	biolink:Disease	obsolete glossopharyngeal neuralgia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001961		
MONDO:0001960	biolink:Disease	obsolete Alpers syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001960		
MONDO:0001965	biolink:Disease	sclerosing keratitis		ICD9:370.54|DOID:14444|UMLS:C0155090|SCTID:27886001	mondo.json	sclerokeratitis	http://purl.obolibrary.org/obo/MONDO_0001965	UMLS:C0155090|http://identifiers.org/snomedct/27886001|DOID:14444	
MONDO:0001964	biolink:Disease	chronic tubotympanic suppurative otitis media	A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections.	ICD10CM:H66.1|DOID:14435|SCTID:87665008|UMLS:C0155440|ICD9:382.1	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001964	http://identifiers.org/snomedct/87665008|UMLS:C0155440|http://purl.bioontology.org/ontology/ICD10CM/H66.1|DOID:14435	
CHEBI:27314	biolink:ChemicalSubstance	water-soluble vitamin (role)	Any vitamin that dissolves in water and readily absorbed into tissues for immediate use. Unlike the fat-soluble vitamins, they are not stored in the body and need to be replenished regularly in the diet and will rarely accumulate to toxic levels since they are quickly excreted from the body via urine.		mondo.json	wasserloesliche Vitamine|water-soluble vitamin|water-soluble vitamins	http://purl.obolibrary.org/obo/CHEBI_27314		
MONDO:0001963	biolink:Disease	obsolete cerebral degeneration disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001963		
MONDO:0001962	biolink:Disease	abnormality of glucagon secretion		UMLS:C0154191|DOID:14427|SCTID:11178005|ICD9:251.4	mondo.json	glucagon secretion abnormality	http://purl.obolibrary.org/obo/MONDO_0001962	UMLS:C0154191|http://identifiers.org/snomedct/11178005|DOID:14427	
HP:0012700	biolink:PhenotypicFeature	Abnormal large intestine physiology	A functional anomaly of the large intestine.	UMLS:C4022766	mondo.json		http://purl.obolibrary.org/obo/HP_0012700		
MONDO:0013947	biolink:Disease	young adult-onset distal hereditary motor neuropathy	Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.	OMIM:614881|UMLS:C3553989|Orphanet:314485	mondo.json	Young adult-onset dHMN|autosomal recessive distal spinal muscular atrophy type 5|spinal muscular atrophy, distal, autosomal recessive, type 5|spinal muscular atrophy, distal, autosomal recessive, 5|dSMA5|DSMA5	http://purl.obolibrary.org/obo/MONDO_0013947	Orphanet:314485|https://omim.org/entry/614881|UMLS:C3553989	ordo_disease
UBERON:0007172	biolink:AnatomicalEntity	angle of scapula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007172		
MONDO:0013948	biolink:Disease	peroxisome biogenesis disorder 10A (Zellweger)		DOID:0080484|OMIM:614882|UMLS:C3553999	mondo.json	peroxisome biogenesis disorder, complementation group 12|peroxisome biogenesis disorder 10A (Zellweger)|peroxisome biogenesis disorder, complementation group G|PBD10A	http://purl.obolibrary.org/obo/MONDO_0013948	DOID:0080484|UMLS:C3553999|https://omim.org/entry/614882	
HP:0000711	biolink:PhenotypicFeature	Restlessness	A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress.	SNOMEDCT_US:162221009|UMLS:C3887611	mondo.json	Restlessness	http://purl.obolibrary.org/obo/HP_0000711		
UBERON:0007171	biolink:AnatomicalEntity	border of scapula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007171		
MONDO:0013945	biolink:Disease	peroxisome biogenesis disorder 9B		UMLS:CN159238|OMIM:614879	mondo.json	Refsum disease, adult, 2|peroxisome biogenesis disorder, complementation group R|PBD9B|peroxisome biogenesis disorder type 9B|peroxisome biogenesis disorder 9B|peroxisome biogenesis disorder, PEX7-related, atypical|peroxisome biogenesis disorder, complementation group 11	http://purl.obolibrary.org/obo/MONDO_0013945	https://omim.org/entry/614879|UMLS:CN159238	
MONDO:0013946	biolink:Disease	hypogonadotropic hypogonadism 15 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene.	DOID:0090075|OMIM:614880|UMLS:C3553977	mondo.json	hypogonadotropic hypogonadism 15 with or without anosmia|HS6ST1 hypogonadotropic hypogonadism|HH15|hypogonadotropic hypogonadism caused by mutation in HS6ST1	http://purl.obolibrary.org/obo/MONDO_0013946	DOID:0090075|https://omim.org/entry/614880|UMLS:C3553977	
HP:0000713	biolink:PhenotypicFeature	Agitation	A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension.	UMLS:C0085631|SNOMEDCT_US:24199005	mondo.json		http://purl.obolibrary.org/obo/HP_0000713		
GO:1904115	biolink:NamedThing	axon cytoplasm	Any cytoplasm that is part of a axon.		mondo.json	axoplasm	http://purl.obolibrary.org/obo/GO_1904115		
MONDO:0013949	biolink:Disease	peroxisome biogenesis disorder 11A (Zellweger)		DOID:0080485|UMLS:C3554000|OMIM:614883	mondo.json	peroxisome biogenesis disorder, complementation group 13|peroxisome biogenesis disorder 11A (Zellweger)|peroxisome biogenesis disorder, complementation group H|PBD11A	http://purl.obolibrary.org/obo/MONDO_0013949	DOID:0080485|UMLS:C3554000|https://omim.org/entry/614883	
HP:0000717	biolink:PhenotypicFeature	Autism	Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).	UMLS:C0004352|SNOMEDCT_US:408857007|SNOMEDCT_US:408856003|SNOMEDCT_US:43614003|MSH:D001321	mondo.json	Autism	http://purl.obolibrary.org/obo/HP_0000717		
UBERON:0034710	biolink:AnatomicalEntity	spinal cord ventricular layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034710		
MONDO:0013950	biolink:Disease	peroxisome biogenesis disorder 11B		UMLS:C3554001|OMIM:614885	mondo.json	peroxisome biogenesis disorder type 11B|PBD11B|peroxisome biogenesis disorder 11B	http://purl.obolibrary.org/obo/MONDO_0013950	https://omim.org/entry/614885|UMLS:C3554001	
HGNC:5465	biolink:NamedThing	IGF1R			mondo.json		http://identifiers.org/hgnc/5465		
MONDO:0013951	biolink:Disease	peroxisome biogenesis disorder 12A (Zellweger)		UMLS:C3554002|DOID:0080486|OMIM:614886	mondo.json	peroxisome biogenesis disorder, complementation group 14|peroxisome biogenesis disorder, complementation group J|peroxisome biogenesis disorder 12A (Zellweger)|PBD12A|Cg14|Cgj	http://purl.obolibrary.org/obo/MONDO_0013951	https://omim.org/entry/614886|DOID:0080486|UMLS:C3554002	
HGNC:5466	biolink:NamedThing	IGF2			mondo.json		http://identifiers.org/hgnc/5466		
HGNC:5467	biolink:NamedThing	IGF2R			mondo.json		http://identifiers.org/hgnc/5467		
HGNC:5468	biolink:NamedThing	IGFALS			mondo.json		http://identifiers.org/hgnc/5468		
UBERON:0007177	biolink:AnatomicalEntity	lamina propria of mucosa of colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007177		
MONDO:0013954	biolink:Disease	mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene.	Orphanet:319558|UMLS:C4013948|OMIM:614890	mondo.json	MSMD due to complete IL12B deficiency|immunodeficiency type 29|IL12B deficiency|immunodeficiency 29|MSMD due to complete interleukin 12B deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12B|IMD29|immunodeficiency 29, mycobacteriosis|Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency|IL12B autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency	http://purl.obolibrary.org/obo/MONDO_0013954	UMLS:C4013948|https://omim.org/entry/614890|Orphanet:319558	ordo_disease|predisposition
MONDO:0013955	biolink:Disease	mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene.	UMLS:C4013949|OMIM:614891|Orphanet:319552|GARD:0010984	mondo.json	IMD30|Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency|IL12RB1 deficiency|MSMD due to complete interleukin 12 receptor beta 1 deficiency|IL-12Râ1 deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12RB1|MSMD due to complete IL12RB1 deficiency|Mendelian susceptibility to mycobacterial infections due to IL12 deficiency|immunodeficiency type 30|IL12RB1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|immunodeficiency 30	http://purl.obolibrary.org/obo/MONDO_0013955	UMLS:C4013949|https://omim.org/entry/614891|Orphanet:319552	predisposition|ordo_disease
UBERON:0007175	biolink:AnatomicalEntity	inferior angle of scapula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007175		
UBERON:0034705	biolink:AnatomicalEntity	developing neuroepithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034705		
MONDO:0013952	biolink:Disease	peroxisome biogenesis disorder 13A (Zellweger)		UMLS:C3554004|MESH:C566624|DOID:0080487|OMIM:614887	mondo.json	peroxisome biogenesis disorder, complementation group K|PBD13A|peroxisome biogenesis disorder 13A (Zellweger)	http://purl.obolibrary.org/obo/MONDO_0013952	https://omim.org/entry/614887|DOID:0080487|http://identifiers.org/mesh/C566624|UMLS:C3554004	
UBERON:0007174	biolink:AnatomicalEntity	medial border of scapula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007174		
UBERON:0034706	biolink:AnatomicalEntity	proliferating neuroepithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034706		
MONDO:0013953	biolink:Disease	immunodeficiency 28	Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene.	UMLS:C4013947|OMIM:614889	mondo.json	Ifngr2 deficiency|IFNGR2 primary immunodeficiency disease|immunodeficiency 28|immunodeficiency 28, Mycobacteriosis|immunodeficiency type 28|IMD28|primary immunodeficiency disease caused by mutation in IFNGR2	http://purl.obolibrary.org/obo/MONDO_0013953	UMLS:C4013947|https://omim.org/entry/614889	
UBERON:0007173	biolink:AnatomicalEntity	lateral border of scapula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007173		
UBERON:0034707	biolink:AnatomicalEntity	differentiating neuroepithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034707		
MONDO:0001958	biolink:Disease	obsolete autosomal dominant cerebellar ataxia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001958		
UBERON:0034708	biolink:AnatomicalEntity	cerebellum marginal layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034708		
MONDO:0001957	biolink:Disease	critical illness polyneuropathy		MESH:D011115|DOID:14402|UMLS:C0393851|ICD9:357.82|ICD10CM:G62.81|SCTID:230594005	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001957	DOID:14402|http://purl.bioontology.org/ontology/ICD10CM/G62.81|UMLS:C0393851|http://identifiers.org/snomedct/230594005	
UBERON:0034709	biolink:AnatomicalEntity	hindbrain marginal layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034709		
MONDO:0001956	biolink:Disease	capillary leak syndrome	A syndrome characterized by leakage of intravascular fluids into the extravascular space. This syndrome is observed in patients who demonstrate a state of generalized leaky capillaries following shock syndromes, low-flow states, ischemia-reperfusion injuries, toxemias, medications, or poisoning. It can lead to generalized edema and multiple organ failure.	SCTID:87730004|UMLS:C0343084|ICD9:448.9|MESH:D019559|NCIT:C62578|Orphanet:188|GARD:0001084|DOID:14400|MedDRA:10007196	mondo.json	Clarkson disease|capillary leak syndrome with monoclonal gammopathy|SCLS|acute vascular leak syndrome|periodic systemic capillary leak syndrome|systemic capillary leak syndrome|AVLS|CLS|capillary leak syndrome|idiopathic capillary leak syndrome|capillary hyperpermeability syndrome	http://purl.obolibrary.org/obo/MONDO_0001956	DOID:14400|NCIT:C62578|http://identifiers.org/mesh/D019559|http://identifiers.org/snomedct/87730004|Orphanet:188|UMLS:C0343084	ordo_disease
MONDO:0001955	biolink:Disease	protozoal dysentery	A dysentery that involves protozoan infection.	ICD9:007.8|DOID:14397	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001955	DOID:14397	
HGNC:5461	biolink:NamedThing	IGBP1			mondo.json		http://identifiers.org/hgnc/5461		
MONDO:0001959	biolink:Disease	labyrinthine bilateral reactive loss		ICD9:386.56|DOID:14413|SCTID:194377001|UMLS:C0155520	mondo.json	loss of labyrinthine reactivity, bilateral|bilateral loss of labyrinthine reactivity	http://purl.obolibrary.org/obo/MONDO_0001959	DOID:14413|UMLS:C0155520|http://identifiers.org/snomedct/194377001	
HGNC:5464	biolink:NamedThing	IGF1			mondo.json		http://identifiers.org/hgnc/5464		
MONDO:0001972	biolink:Disease	Brucella melitensis brucellosis	A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has symptom fever, has symptom malaise, has symptom anorexia, has symptom limb pain and has symptom back pain.	UMLS:C0302362|DOID:14456|SCTID:427999003|ICD9:023.0	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001972	UMLS:C0302362|DOID:14456|http://identifiers.org/snomedct/427999003	
MONDO:0001971	biolink:Disease	farmer's lung disease	Hypersensitivity pneumonitis caused by the repeated exposure and inhalation of biological dust (such as hay dust, mold spores, or other agricultural products). It is considered a type II hypersensitivity inflammatory reaction. In the acute phase, signs and symptoms include fever, chills, cough, dyspnea, headache, and chest tightness. The subacute phase manifests as chronic cough, dyspnea, anorexia, and weight loss. The chronic phase results from the prolonged exposure to the antigen and is characterized by severe dyspnea and irreversible damage to the lungs.	MedDRA:10016221|Orphanet:99906|ICD9:495.0|NCIT:C34605|DOID:14453|GARD:0006427|SCTID:18690003|UMLS:C0015634	mondo.json	Farmers lung|farmer lung|farmer's lung	http://purl.obolibrary.org/obo/MONDO_0001971	UMLS:C0015634|http://identifiers.org/snomedct/18690003|Orphanet:99906|NCIT:C34605|DOID:14453	gard_rare|ordo_disease
MONDO:0001970	biolink:Disease	obsolete hypokalemic periodic paralysis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001970		
MONDO:0001976	biolink:Disease	chorea gravidarum	A rare movement disorder developed during pregnancy, characterized by involuntary jerky motion (chorea) and inability to maintain stable position of body parts (athetosis). rheumatic fever and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)	SCTID:25113000|MESH:D020150|EFO:1001290|UMLS:C0264746|DOID:14483|ICD9:646.80	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001976	UMLS:C0264746|http://identifiers.org/snomedct/25113000|http://identifiers.org/mesh/D020150|DOID:14483	
CHEBI:29987	biolink:ChemicalSubstance	glutamate(2-)	A dicarboxylic acid dianion that is the conjugate base of glutamate(1-).		mondo.json	2-aminopentanedioate|glutamate|glutamate(2-)|glutamic acid dianion	http://purl.obolibrary.org/obo/CHEBI_29987		
UBERON:0019143	biolink:AnatomicalEntity	intramuscular adipose tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0019143		
CHEBI:29986	biolink:ChemicalSubstance	D-glutamate(1-)	An alpha-amino-acid anion that is the conjugate base of D-glutamic acid, having anionic carboxy groups and a cationic amino group		mondo.json	(2R)-2-ammoniopentanedioate|D-glutamate(1-)|D-glutamic acid monoanion|hydrogen D-glutamate|D-glutamate	http://purl.obolibrary.org/obo/CHEBI_29986		
MONDO:0001975	biolink:Disease	cavernous hemangioma of orbit	A cavernous hemangioma arising from the orbit.	DOID:14463|SCTID:254998002|NCIT:C4546|ICD9:228.09|UMLS:C0346352	mondo.json	orbit cavernous hemangioma|cavernous hemangioma of the orbit|orbit cavernous angioma|cavernous angioma of orbit|cavernous angioma of the orbit	http://purl.obolibrary.org/obo/MONDO_0001975	NCIT:C4546|UMLS:C0346352|http://identifiers.org/snomedct/254998002|DOID:14463	
MONDO:0001974	biolink:Disease	hemangioma of orbit	A hemangioma arising from the orbit.	DOID:14459|UMLS:C1335128|SCTID:121951000119101|NCIT:C6245|ICD9:228.09	mondo.json	hemangioma of the orbit|orbit angioma|angioma of orbit|orbit hemangioma|angioma of the orbit	http://purl.obolibrary.org/obo/MONDO_0001974	NCIT:C6245|UMLS:C1335128|http://identifiers.org/snomedct/121951000119101|DOID:14459	
CHEBI:29989	biolink:ChemicalSubstance	D-glutamate(2-)			mondo.json	D-glutamate(2-)|(2R)-2-aminopentanedioate|D-glutamic acid dianion|D-glutamate	http://purl.obolibrary.org/obo/CHEBI_29989		
MONDO:0001973	biolink:Disease	Brucella abortus brucellosis	A bacterial infection caused by Brucella abortus that spreads from cattle to humans. Brucella abortus can cause of range of signs and symptoms including fever, chills, sweats, weight loss, malaise, headaches, myalgia, and arthralgia.	ICD9:023.1|DOID:14457|SCTID:427795000|MESH:D002007	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001973	http://identifiers.org/snomedct/427795000|DOID:14457	
CHEBI:29988	biolink:ChemicalSubstance	L-glutamate(2-)	An L-alpha-amino acid anion that is the dianion obtained by the deprotonation of the both the carboxy groups of L-glutamic acid.		mondo.json	L-glutamic acid dianion|L-glutamate|(2S)-2-aminopentanedioate|L-glutamate(2-)	http://purl.obolibrary.org/obo/CHEBI_29988		
MONDO:0013936	biolink:Disease	peroxisome biogenesis disorder 6A (Zellweger)		MESH:C566422|NCIT:C155758|UMLS:C3553947|DOID:0080481|OMIM:614870	mondo.json	peroxisome biogenesis disorder, complementation group B|PBD6A|peroxisome biogenesis disorder, complementation group 7|peroxisome biogenesis disorder 6A (Zellweger)	http://purl.obolibrary.org/obo/MONDO_0013936	DOID:0080481|http://identifiers.org/mesh/C566422|NCIT:C155758|UMLS:C3553947|https://omim.org/entry/614870	
MONDO:0013937	biolink:Disease	peroxisome biogenesis disorder 6B		NCIT:C155759|UMLS:C3553948|OMIM:614871	mondo.json	peroxisome biogenesis disorder 6B|peroxisome biogenesis disorder type 6B|PBD6B	http://purl.obolibrary.org/obo/MONDO_0013937	NCIT:C155759|UMLS:C3553948|https://omim.org/entry/614871	
UBERON:0007160	biolink:AnatomicalEntity	inferior petrosal sinus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007160		
MONDO:0013934	biolink:Disease	combined immunodeficiency due to STK4 deficiency	Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).	UMLS:C3553943|Orphanet:314689|OMIM:614868	mondo.json	T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations|TIIAC|Mst1 deficiency|T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations|Cid due to STK4 deficiency|STK4 deficiency	http://purl.obolibrary.org/obo/MONDO_0013934	Orphanet:314689|UMLS:C3553943|https://omim.org/entry/614868	ordo_disease
CHEBI:29985	biolink:ChemicalSubstance	L-glutamate(1-)	An alpha-amino-acid anion that is the conjugate base of L-glutamic acid, having anionic carboxy groups and a cationic amino group		mondo.json	hydrogen L-glutamate|L-glutamate|L-glutamate(1-)|L-glutamic acid monoanion|(2S)-2-ammoniopentanedioate|L-glutamic acid, ion(1-)	http://purl.obolibrary.org/obo/CHEBI_29985		
MONDO:0013935	biolink:Disease	Usher syndrome type 1J	Any Usher syndrome in which the cause of the disease is a mutation in the CIB2 gene.	DOID:0110836|ICD10CM:H35.5|UMLS:C3553944|OMIM:614869	mondo.json	USH1J|CIB2 Usher syndrome|Usher syndrome type Ij|USHER syndrome, type Ij|Usher syndrome, type 1J|Usher syndrome caused by mutation in CIB2	http://purl.obolibrary.org/obo/MONDO_0013935	DOID:0110836|https://omim.org/entry/614869|UMLS:C3553944	
HP:0000726	biolink:PhenotypicFeature	Dementia	A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.	MSH:D003704|SNOMEDCT_US:52448006|UMLS:C0497327	mondo.json	Dementia, progressive|Progressive dementia|Dementia	http://purl.obolibrary.org/obo/HP_0000726		
HP:0000729	biolink:PhenotypicFeature	Autistic behavior	Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.	MSH:D000067877|UMLS:C1510586|UMLS:C0856975	mondo.json	ASD|Pervasive developmental disorder|Autism spectrum disorder|Autistic behaviour|Autistic behaviors|Autism spectrum disorders|Autistic behaviours	http://purl.obolibrary.org/obo/HP_0000729		
MONDO:0013938	biolink:Disease	peroxisome biogenesis disorder 7A (Zellweger)		UMLS:C3888385|OMIM:614872|DOID:0080482	mondo.json	peroxisome biogenesis disorder 7A (Zellweger)|PBD7A|peroxisome biogenesis disorder, complementation group A|peroxisome biogenesis disorder, complementation group 8	http://purl.obolibrary.org/obo/MONDO_0013938	DOID:0080482|https://omim.org/entry/614872|UMLS:C3888385	
UBERON:0034720	biolink:AnatomicalEntity	head taste bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034720		
MONDO:0013939	biolink:Disease	peroxisome biogenesis disorder 7B		UMLS:C3553951|OMIM:614873	mondo.json	PBD7B|peroxisome biogenesis disorder 7B|peroxisome biogenesis disorder type 7B	http://purl.obolibrary.org/obo/MONDO_0013939	https://omim.org/entry/614873|UMLS:C3553951	
UBERON:0034721	biolink:AnatomicalEntity	pharyngeal taste bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034721		
UBERON:0034711	biolink:AnatomicalEntity	cortical preplate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034711		
HGNC:5476	biolink:NamedThing	IGFBP7			mondo.json		http://identifiers.org/hgnc/5476		
MONDO:0013940	biolink:Disease	primary ciliary dyskinesia 18	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene.	UMLS:C3543825|OMIM:614874|DOID:0110604	mondo.json	CILD18|ciliary dyskinesia, primary, 18|primary ciliary dyskinesia 18 with or without situs inversus|ciliary dyskinesia, primary, 18, with or without situs inversus|primary ciliary dyskinesia type 18|DNAAF5 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 18|primary ciliary dyskinesia caused by mutation in DNAAF5	http://purl.obolibrary.org/obo/MONDO_0013940	DOID:0110604|https://omim.org/entry/614874|UMLS:C3543825	
UBERON:0034713	biolink:AnatomicalEntity	cranial neuron projection bundle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034713		
UBERON:0034714	biolink:AnatomicalEntity	epiphyseal tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034714		
MONDO:0013943	biolink:Disease	peroxisome biogenesis disorder 8B		UMLS:C3553960|OMIM:614877	mondo.json	peroxisome biogenesis disorder type 8B|peroxisome biogenesis disorder 8B|PBD8B	http://purl.obolibrary.org/obo/MONDO_0013943	UMLS:C3553960|https://omim.org/entry/614877	
UBERON:0034715	biolink:AnatomicalEntity	pineal tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034715		
MONDO:0013944	biolink:Disease	autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation		UMLS:C3553961|OMIM:614878|Orphanet:324530	mondo.json	AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated|autoinflammation, antibody deficiency, and immune dysregulation syndrome|APLAID	http://purl.obolibrary.org/obo/MONDO_0013944	UMLS:C3553961|https://omim.org/entry/614878|Orphanet:324530	ordo_disease
MONDO:0013941	biolink:Disease	metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.	Orphanet:99646|UMLS:C3553958|OMIM:614875	mondo.json	metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria|metaphyseal Enchondrodysplasia with 2-hydroxyglutaric aciduria|spondyloenchondromatosis with D-2-hydroxyglutaric aciduria|metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria	http://purl.obolibrary.org/obo/MONDO_0013941	https://omim.org/entry/614875|UMLS:C3553958|Orphanet:99646	ordo_disease
UBERON:0034717	biolink:AnatomicalEntity	integumental taste bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034717		
MONDO:0013942	biolink:Disease	peroxisome biogenesis disorder 8A (Zellweger)		DOID:0080483|UMLS:C3553959|OMIM:614876	mondo.json	peroxisome biogenesis disorder 8A (Zellweger)|peroxisome biogenesis disorder, complementation group D|peroxisome biogenesis disorder, complementation group 9|PBD8A	http://purl.obolibrary.org/obo/MONDO_0013942	UMLS:C3553959|https://omim.org/entry/614876|DOID:0080483	
MONDO:0001969	biolink:Disease	mixed gonadal dysgenesis	A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution.	UMLS:C0018055|DOID:14449|MESH:D006060|GARD:0002539|SCTID:83579008	mondo.json	gonadal dysgenesis mixed	http://purl.obolibrary.org/obo/MONDO_0001969	DOID:14449|http://identifiers.org/mesh/D006060|UMLS:C0018055|http://identifiers.org/snomedct/83579008	gard_rare
UBERON:0034719	biolink:AnatomicalEntity	lip taste bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034719		
MONDO:0001968	biolink:Disease	obsolete 46 XY gonadal dysgenesis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001968		
MONDO:0001967	biolink:Disease	gonadal dysgenesis	A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.	MESH:D006059|SCTID:205681004|DOID:14447|GARD:0002538|NCIT:C61420|ICD9:758.6	mondo.json	gonadal dysgenesis syndrome	http://purl.obolibrary.org/obo/MONDO_0001967	DOID:14447|http://identifiers.org/mesh/D006059|NCIT:C61420|http://identifiers.org/snomedct/205681004	gard_rare
MONDO:0001966	biolink:Disease	chronic closed-angle glaucoma	Chronic form of angle-closure glaucoma.	UMLS:C0154947|DOID:14445|ICD9:365.23|SCTID:33647009	mondo.json	angle-closure glaucoma, chronic|chronic angle-closure glaucoma|chronic narrow angle glaucoma|anatomical narrow angle glaucoma	http://purl.obolibrary.org/obo/MONDO_0001966	DOID:14445|UMLS:C0154947|http://identifiers.org/snomedct/33647009	
MONDO:0001943	biolink:Disease	Plasmodium malariae malaria	Malaria resulting from infection by Plasmodium malariae.	ICD9:084.2|ICD10CM:B52|DOID:14324|UMLS:C0024536|NCIT:C34799|SCTID:27618009	mondo.json	malaria by Plasmodium malariae|quartan malaria	http://purl.obolibrary.org/obo/MONDO_0001943	DOID:14324|http://purl.bioontology.org/ontology/ICD10CM/B52|NCIT:C34799|UMLS:C0024536|http://identifiers.org/snomedct/27618009	
MONDO:0001942	biolink:Disease	generalized anxiety disorder	An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months.	SCTID:21897009|EFO:1001892|ICD9:300.02|NCIT:C92622|DOID:14320|ICD10CM:F41.1	mondo.json	GAD	http://purl.obolibrary.org/obo/MONDO_0001942	DOID:14320|NCIT:C92622|http://purl.bioontology.org/ontology/ICD10CM/F41.1|http://identifiers.org/snomedct/21897009	
MONDO:0001941	biolink:Disease	blindness (disorder)	The lack of vision. It is caused by neurological or physiological factors.	DOID:1432|NCIT:C97109|ICD10CM:H54|ICD9:369|MESH:D001766|SCTID:105597003	mondo.json	vision impairment|visual impairment|vision loss|blindness	http://purl.obolibrary.org/obo/MONDO_0001941	http://purl.bioontology.org/ontology/ICD10CM/H54|NCIT:C97109|http://identifiers.org/snomedct/105597003|DOID:1432|http://identifiers.org/mesh/D001766	
MONDO:0001940	biolink:Disease	pleuropneumonia	Inflammation of the lung parenchyma that is associated with pleurisy, inflammation of the pleura.	DOID:14319|SCTID:60485005|UMLS:C0032241|MESH:D011001	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001940	DOID:14319|http://identifiers.org/snomedct/60485005|http://identifiers.org/mesh/D011001|UMLS:C0032241	
MONDO:0013925	biolink:Disease	methylmalonic acidemia with homocystinuria, type cblJ		OMIM:614857|UMLS:C3553915|GARD:0012621|Orphanet:369955	mondo.json	cobalamin J defect|methylmalonic aciduria and homocystinuria, cblJ type|cblJ defects|methylmalonic acidemia with homocystinuria type cblJ|methylmalonic aciduria with homocystinuria, type cblJ|MAHCJ|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ	http://purl.obolibrary.org/obo/MONDO_0013925	Orphanet:369955|https://omim.org/entry/614857|UMLS:C3553915	gard_rare|ordo_clinical_subtype
MONDO:0013926	biolink:Disease	hypogonadotropic hypogonadism 14 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the WDR11 gene.	ICD10CM:E23.0|DOID:0090087|OMIM:614858|UMLS:C3540450	mondo.json	hypogonadotropic hypogonadism 14 with or without anosmia|HH14|WDR11 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism caused by mutation in WDR11	http://purl.obolibrary.org/obo/MONDO_0013926	DOID:0090087|UMLS:C3540450|https://omim.org/entry/614858	
MONDO:0013923	biolink:Disease	microcephaly 9, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene.	UMLS:C3553886|OMIM:614852|DOID:0070292	mondo.json	MCPH9|microcephaly 9, primary, autosomal recessive|autosomal recessive primary microcephaly caused by mutation in CEP152|CEP152 autosomal recessive primary microcephaly	http://purl.obolibrary.org/obo/MONDO_0013923	https://omim.org/entry/614852|UMLS:C3553886|DOID:0070292	
MONDO:0013924	biolink:Disease	osteogenesis imperfecta type 13	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene.	OMIM:614856|UMLS:C3553887|Orphanet:216812|DOID:0110342	mondo.json	BMP1 osteogenesis imperfecta|osteogenesis imperfecta, type 13|OI, type 13|OI13|osteogenesis imperfecta caused by mutation in BMP1|osteogenesis imperfecta, type XIII|osteogenesis imperfecta type XIII	http://purl.obolibrary.org/obo/MONDO_0013924	DOID:0110342|https://omim.org/entry/614856|UMLS:C3553887	
MONDO:0013929	biolink:Disease	autosomal recessive nonsyndromic hearing loss 98	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TSPEAR gene.	UMLS:C3553932|OMIM:614861|DOID:0110540	mondo.json	DFNB98|autosomal recessive nonsyndromic deafness type 98|TSPEAR autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 98|autosomal recessive deafness 98|deafness, autosomal recessive 98|autosomal recessive nonsyndromic deafness 98|autosomal recessive nonsyndromic deafness caused by mutation in TSPEAR	http://purl.obolibrary.org/obo/MONDO_0013929	DOID:0110540|UMLS:C3553932|https://omim.org/entry/614861	clingen
UBERON:0034730	biolink:AnatomicalEntity	olfactory tract linking bulb to ipsilateral dorsal telencephalon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034730		
MONDO:0013927	biolink:Disease	peroxisome biogenesis disorder 3A (Zellweger)		OMIM:614859|UMLS:C3553929|DOID:0080478|MESH:C566633|NCIT:C155752	mondo.json	peroxisome biogenesis disorder 3A (Zellweger)|PBD3A|peroxisome biogenesis disorder, complementation group 3	http://purl.obolibrary.org/obo/MONDO_0013927	DOID:0080478|http://identifiers.org/mesh/C566633|NCIT:C155752|https://omim.org/entry/614859|UMLS:C3553929	
MONDO:0013928	biolink:Disease	dystonia 23	Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene.	UMLS:C3538999|Orphanet:420492|DOID:0090051|OMIM:614860	mondo.json	dystonic disorder caused by mutation in CACNA1B|dystonia 23|adult-onset cervical dystonia, DYT23 type|DYT23|dystonia type 23|CACNA1B dystonic disorder	http://purl.obolibrary.org/obo/MONDO_0013928	DOID:0090051|UMLS:C3538999|Orphanet:420492|https://omim.org/entry/614860	ordo_disease
UBERON:0007158	biolink:AnatomicalEntity	lumen of anal canal			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007158		
UBERON:0034722	biolink:AnatomicalEntity	mouth roof taste bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034722		
UBERON:0034723	biolink:AnatomicalEntity	fin taste bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034723		
UBERON:0034724	biolink:AnatomicalEntity	esophageal taste bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034724		
MONDO:0013932	biolink:Disease	peroxisome biogenesis disorder 5A (Zellweger)		UMLS:C3553940|NCIT:C155756|DOID:0080480|OMIM:614866	mondo.json	peroxisome biogenesis disorder 5A (Zellweger)|peroxisome biogenesis disorder, complementation group F|peroxisome biogenesis disorder, complementation group 5|PBD5A|peroxisome biogenesis disorder, complementation group 10	http://purl.obolibrary.org/obo/MONDO_0013932	NCIT:C155756|https://omim.org/entry/614866|UMLS:C3553940|DOID:0080480	
UBERON:0034726	biolink:AnatomicalEntity	trunk taste bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034726		
MONDO:0013933	biolink:Disease	peroxisome biogenesis disorder 5B		UMLS:C3542026|NCIT:C155757|OMIM:614867	mondo.json	peroxisome biogenesis disorder type 5B|peroxisome biogenesis disorder 5B|PBD5B	http://purl.obolibrary.org/obo/MONDO_0013933	UMLS:C3542026|NCIT:C155757|https://omim.org/entry/614867	
MONDO:0013930	biolink:Disease	peroxisome biogenesis disorder 4A (Zellweger)		OMIM:614862|NCIT:C155754|UMLS:C3553936|DOID:0080479|MESH:C563301	mondo.json	classic peroxisome biogenesis disorder|peroxisome biogenesis disorder 4A (Zellweger)|PBD4A|peroxisome biogenesis disorder, complementation group 6|peroxisome biogenesis disorder, complementation group 4|peroxisome biogenesis disorder, complementation group C	http://purl.obolibrary.org/obo/MONDO_0013930	http://identifiers.org/mesh/C563301|NCIT:C155754|UMLS:C3553936|https://omim.org/entry/614862|DOID:0080479	
UBERON:0034728	biolink:AnatomicalEntity	autonomic nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034728		
MONDO:0013931	biolink:Disease	peroxisome biogenesis disorder 4B		OMIM:614863|NCIT:C155755|UMLS:C3553937	mondo.json	peroxisome biogenesis disorder type 4B|peroxisome biogenesis disorder 4B|non-classic peroxisome biogenesis disorder|PBD4B	http://purl.obolibrary.org/obo/MONDO_0013931	NCIT:C155755|UMLS:C3553937|https://omim.org/entry/614863	
UBERON:0007151	biolink:AnatomicalEntity	mitral valve leaflet			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007151		
UBERON:0034729	biolink:AnatomicalEntity	sympathetic nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034729		
MONDO:0001936	biolink:Disease	brawny scleritis		DOID:14287|UMLS:C0155356|ICD9:379.06|SCTID:91612009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001936	http://identifiers.org/snomedct/91612009|DOID:14287|UMLS:C0155356	
MONDO:0001935	biolink:Disease	neurogenic arthropathy	Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)	DOID:14286|SCTID:359554008|EFO:1001378|ICD9:713.5|MESH:D001177|UMLS:C0003892	mondo.json	neuropathic arthropathy (& Charcot's)|Charcot's joint|Charcot's arthropathy|arthropathy associated with neurological disorder|neuropathic arthropathy	http://purl.obolibrary.org/obo/MONDO_0001935	UMLS:C0003892|http://identifiers.org/mesh/D001177|DOID:14286|http://identifiers.org/snomedct/359554008	
MONDO:0001934	biolink:Disease	obsolete primary hypertrophic osteoarthropathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001934		
MONDO:0001933	biolink:Disease	endocrine pancreas disorder	A disease involving the endocrine pancreas.	NCIT:C27067|UMLS:C0271633|ICD9:251|DOID:1428|SCTID:17346000	mondo.json	disease of endocrine pancreas|endocrine pancreas disorder|disease or disorder of endocrine pancreas|endocrine pancreas disease|disorder of pancreatic islets|disorder of islets of langerhans|endocrine pancreas disease or disorder|disorder of endocrine pancreas	http://purl.obolibrary.org/obo/MONDO_0001933	UMLS:C0271633|NCIT:C27067|DOID:1428|http://identifiers.org/snomedct/17346000	
MONDO:0001939	biolink:Disease	skin epithelioid hemangioma	A hemangioma arising from the skin. It is characterized by the presence of epithelioid endothelial cells.	EFO:1001424|NCIT:C7393|SCTID:400131007|DOID:14308|MESH:D000796|UMLS:C0002989	mondo.json	zone of skin histiocytoid hemangioma|epithelioid hemangioma of skin|epithelioid hemangioma of the skin|skin epithelioid hemangioma|angiolymphoid hyperplasia of skin|angiolymphoid hyperplasia of the skin|histiocytoid hemangioma of zone of skin|angiolymphoid cutaneous hyperplasia|histiocytoid hemangioma of skin|histiocytoid hemangioma of the skin	http://purl.obolibrary.org/obo/MONDO_0001939	UMLS:C0002989|DOID:14308|http://identifiers.org/snomedct/400131007|NCIT:C7393	
NCBITaxon:232795	biolink:OrganismalEntity	Dicistroviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_232795		
MONDO:0001938	biolink:Disease	vulvar dystrophy	A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness.	ICD9:624.0|UMLS:C0013426|SCTID:51689003|ICD9:624.09|DOID:14292|NCIT:C34565	mondo.json	dystrophy of vulva	http://purl.obolibrary.org/obo/MONDO_0001938	UMLS:C0013426|DOID:14292|NCIT:C34565|http://identifiers.org/snomedct/51689003	
UBERON:0007159	biolink:AnatomicalEntity	lumen of colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007159		
MONDO:0001937	biolink:Disease	obsolete LEOPARD syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001937		
MONDO:0001950	biolink:Disease	corneal ectasia		UMLS:C0155135|SCTID:14748007|ICD9:371.71|DOID:1436	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001950	UMLS:C0155135|DOID:1436|http://identifiers.org/snomedct/14748007	
CHEBI:27306	biolink:ChemicalSubstance	vitamin B6	Any member of the group of pyridines that exhibit biological activity against vitamin B6 deficiency. Vitamin B6 deficiency is associated with microcytic anemia, electroencephalographic abnormalities, dermatitis with cheilosis (scaling on the lips and cracks at the corners of the mouth) and glossitis (swollen tongue), depression and confusion, and weakened immune function. Vitamin B6 consists of the vitamers pyridoxine, pyridoxal, and pyridoxamine and their respective 5'-phosphate esters (and includes their corresponding ionized and salt forms).		mondo.json	vitamin B6 vitamer|Vitamin B6|vitamin B6 vitamers|vitamina B6|vitamins B6|vitamine B6|vitamin B-6	http://purl.obolibrary.org/obo/CHEBI_27306		
HP:0000708	biolink:PhenotypicFeature	Behavioral abnormality	An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.	UMLS:C0233514|UMLS:C0004941|SNOMEDCT_US:25786006|MSH:D000066553|SNOMEDCT_US:277843001|MSH:D001526	mondo.json	Behavioral symptoms|Behavioral disturbances|Behavioural abnormality|Behavioural symptoms|Behavioral problems|Behavioural disturbances|Behavioural problems|Behavioural changes|Behavioural disorders|Behavioral abnormality|Behavioral changes|Behavioral disorders|Psychiatric disorders|Behavioral/psychiatric abnormalities|Psychiatric disturbances|Behavioural/Psychiatric abnormality	http://purl.obolibrary.org/obo/HP_0000708		
MONDO:0001954	biolink:Disease	thrombophlebitis migrans	A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations.	DOID:14392|ICD9:453.1|ICD10CM:I82.1|SCTID:31268005|UMLS:C0152250	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001954	DOID:14392|http://identifiers.org/snomedct/31268005|UMLS:C0152250|http://purl.bioontology.org/ontology/ICD10CM/I82.1	
MONDO:0001953	biolink:Disease	pyuria	The presence of excessive white blood cells in the urine as determined by urinalysis.	DOID:1439|HP:0012085|MESH:D011776	mondo.json	pus cells in urine|pyuria|pyuria (disease)	http://purl.obolibrary.org/obo/MONDO_0001953	http://identifiers.org/mesh/D011776|DOID:1439	
NCBITaxon:5653	biolink:OrganismalEntity	Kinetoplastea		GC_ID:1	mondo.json	kinetoplasts|kinetoplastids|Kinetoplastida|Protomonadida	http://purl.obolibrary.org/obo/NCBITaxon_5653		
MONDO:0001952	biolink:Disease	parietal lobe cancer	A malignant neoplasm involving the parietal lobe	ICD10CM:C71.3|UMLS:C0153637|ICD9:191.3|DOID:14384|SCTID:363469001	mondo.json	malignant neoplasm of parietal lobe|malignant parietal lobe neoplasm|parietal lobe neoplasm|cancer of parietal lobe|parietal lobe cancer	http://purl.obolibrary.org/obo/MONDO_0001952	http://purl.bioontology.org/ontology/ICD10CM/C71.3|http://identifiers.org/snomedct/363469001|UMLS:C0153637|DOID:14384	
MONDO:0001951	biolink:Disease	Norwegian scabies	A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia.	GARD:0012151|DOID:14374|UMLS:C0028425|SCTID:128870005|NCIT:C34855	mondo.json	crusted scabies|seven year itch	http://purl.obolibrary.org/obo/MONDO_0001951	NCIT:C34855|http://identifiers.org/snomedct/128870005|UMLS:C0028425|DOID:14374	
NCBITaxon:5654	biolink:OrganismalEntity	Trypanosomatidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5654		
MONDO:0013914	biolink:Disease	hypogonadotropic hypogonadism 12 with or without anosmia	A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21.	OMIM:227200|ICD10CM:E23.0|MESH:C535764|OMIM:614841|GARD:0000276|UMLS:C1856897|DOID:0090072	mondo.json	eunuchoidism, familial hypogonadotropic|familial hypogonadotropic eunuchoidism|eunuchoidism familial hypogonadotropic|familial hypogonadotrophic eunuchoidism|gonadotropin deficiency familial idiopathic|familial idiopathic gonadotrpin deficiency|FIGD|hypogonadotropic hypogonadism 12 with or without anosmia|gonadotropin deficiency, familial idiopathic|HH12	http://purl.obolibrary.org/obo/MONDO_0013914	UMLS:C1856897|DOID:0090072|http://identifiers.org/mesh/C535764|https://omim.org/entry/614841	gard_rare
MONDO:0013915	biolink:Disease	hypogonadotropic hypogonadism 13 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene.	ICD10CM:E23.0|OMIM:614842|UMLS:C3541462|DOID:0090073	mondo.json	hypogonadotropic hypogonadism caused by mutation in KISS1|KISS1 hypogonadotropic hypogonadism|HH13|hypogonadotropic hypogonadism 13 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0013915	DOID:0090073|UMLS:C3541462|https://omim.org/entry/614842	
MONDO:0013912	biolink:Disease	hypogonadotropic hypogonadism 10 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene.	DOID:0090089|OMIM:614839|UMLS:C3553843|ICD10CM:E23.0	mondo.json	TAC3 hypogonadotropic hypogonadism|HH10|hypogonadotropic hypogonadism 10 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in TAC3	http://purl.obolibrary.org/obo/MONDO_0013912	DOID:0090089|https://omim.org/entry/614839|UMLS:C3553843	
MONDO:0013913	biolink:Disease	hypogonadotropic hypogonadism 11 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene.	UMLS:C3553844|ICD10CM:E23.0|OMIM:614840|DOID:0090071	mondo.json	HH11|TACR3 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism caused by mutation in TACR3|hypogonadotropic hypogonadism 11 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0013913	DOID:0090071|UMLS:C3553844|https://omim.org/entry/614840	
MONDO:0013918	biolink:Disease	distal tetrasomy 15q		Orphanet:314588|OMIM:614846|UMLS:C3553858|UMLS:CN203770	mondo.json	tetrasomy type 15Q26|distal tetrasomy type 15q|tetrasomy 15(q25-qter)|tetrasomy 15q26|levy-Shanske syndrome	http://purl.obolibrary.org/obo/MONDO_0013918	UMLS:CN203770|Orphanet:314588|https://omim.org/entry/614846|UMLS:C3553858	ordo_etiological_subtype
MONDO:0013919	biolink:Disease	epilepsy, idiopathic generalized, susceptibility to, 12		OMIM:614847|DOID:0111313	mondo.json	EIG12|epilepsy, idiopathic generalized, susceptibility to, type 12|susceptibility to idiopathic generalized epilepsy 12|epilepsy, idiopathic generalized, susceptibility to, 12	http://purl.obolibrary.org/obo/MONDO_0013919	DOID:0111313|https://omim.org/entry/614847	predisposition
MONDO:0013916	biolink:Disease	nephronophthisis 14	Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene.	DOID:0111122|OMIM:614844|UMLS:C3539071|Orphanet:2318	mondo.json	Joubert syndrome 19|ZNF423 nephronophthisis (disease)|NPHP14|nephronophthisis 14|nephronophthisis (disease) caused by mutation in ZNF423|nephronophthisis type 14	http://purl.obolibrary.org/obo/MONDO_0013916	UMLS:C3539071|DOID:0111122|https://omim.org/entry/614844	
HP:0000707	biolink:PhenotypicFeature	Abnormality of the nervous system	An abnormality of the nervous system.	UMLS:C0497552|MSH:D009421|SNOMEDCT_US:88425004	mondo.json	Neurologic abnormalities|Brain and/or spinal cord issue|Neurological abnormality|Abnormality of the nervous system	http://purl.obolibrary.org/obo/HP_0000707		
MONDO:0013917	biolink:Disease	nephronophthisis 15	Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene.	UMLS:C3541853|OMIM:614845|DOID:0111123	mondo.json	nephronophthisis type 15|CEP164 nephronophthisis (disease)|NPHP15|nephronophthisis 15|nephronophthisis (disease) caused by mutation in CEP164	http://purl.obolibrary.org/obo/MONDO_0013917	DOID:0111123|UMLS:C3541853|https://omim.org/entry/614845	
CHEBI:15339	biolink:ChemicalSubstance	acceptor	A molecular entity that can accept an electron, a pair of electrons, an atom or a group from another molecular entity.		mondo.json	accepteur|Oxidized donor|Hydrogen-acceptor|A|Acceptor|Akzeptor	http://purl.obolibrary.org/obo/CHEBI_15339		
UBERON:0007147	biolink:AnatomicalEntity	lumen of midgut			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007147		
UBERON:0007144	biolink:AnatomicalEntity	embryonic post-anal tail			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007144		
UBERON:0034736	biolink:AnatomicalEntity	coracoclavicular ligament			mondo.json		http://purl.obolibrary.org/obo/UBERON_0034736		
MONDO:0013921	biolink:Disease	herpes simplex encephalitis, susceptibility to, 4	Any herpes simplex encephalitis in which the cause of the disease is a mutation in the TICAM1 gene.	OMIM:614850	mondo.json	encephalopathy, acute, infection-induced, susceptibility to, 6|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 6|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 6|Herpes simplex encephalitis, susceptibility to, type 4|herpes simplex encephalitis caused by mutation in TICAM1|IIAE6|herpes simplex encephalitis, susceptibility to, 4|TICAM1 herpes simplex encephalitis	http://purl.obolibrary.org/obo/MONDO_0013921	https://omim.org/entry/614850	predisposition
UBERON:0007143	biolink:AnatomicalEntity	right internal carotid artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007143		
MONDO:0013922	biolink:Disease	Seckel syndrome 7	Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.	Orphanet:319675|OMIM:614851|UMLS:C3553870|DOID:0070011	mondo.json	Seckel syndrome 7|NIN Seckel syndrome|Seckel syndrome caused by mutation in NIN|microcephalic primordial dwarfism, Dauber type|SCKL7|Seckel syndrome type 7	http://purl.obolibrary.org/obo/MONDO_0013922	UMLS:C3553870|DOID:0070011|https://omim.org/entry/614851|Orphanet:319675	ordo_malformation_syndrome
UBERON:0007142	biolink:AnatomicalEntity	left internal carotid artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007142		
CHEBI:17996	biolink:ChemicalSubstance	chloride	A halide anion formed when chlorine picks up an electron to form an an anion.		mondo.json	chloride|Chloride|Chloride(1-)|Cl-|Chlorine anion|Cl(-)|chloride(1-)|CHLORIDE ION|Chloride ion	http://purl.obolibrary.org/obo/CHEBI_17996		
MONDO:0013920	biolink:Disease	herpes simplex encephalitis, susceptibility to, 3	Any herpes simplex encephalitis in which the cause of the disease is a mutation in the TRAF3 gene.	OMIM:614849	mondo.json	TRAF3 herpes simplex encephalitis|herpes simplex encephalitis, susceptibility to, 3|herpes simplex encephalitis caused by mutation in TRAF3|encephalopathy, acute, infection-induced, susceptibility to, 5|IIAE5|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 5|Herpes simplex encephalitis, susceptibility to, type 3|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0013920	https://omim.org/entry/614849	predisposition
CHEBI:17997	biolink:ChemicalSubstance	dinitrogen	An elemental molecule consisting of two trivalently-bonded nitrogen atoms.		mondo.json	dinitrogen|N2|Nitrogen|molecular nitrogen|N#N	http://purl.obolibrary.org/obo/CHEBI_17997		
MONDO:0001947	biolink:Disease	suppurative thyroiditis	Acute inflammatory disease of the thyroid gland due to infections by bacteria; fungi; or other microorganisms. Symptoms include tender swelling, fever, and often with leukocytosis.	MESH:D013969|ICD10CM:E06.0|SCTID:25476006|DOID:14350|EFO:1001431|UMLS:C0040150|NCIT:C129724	mondo.json	suppurative thyroiditis|abscess of thyroid|acute suppurative thyroiditis|infectious thyroiditis	http://purl.obolibrary.org/obo/MONDO_0001947	http://identifiers.org/snomedct/25476006|DOID:14350|NCIT:C129724|http://identifiers.org/mesh/D013969|UMLS:C0040150	
MONDO:0001946	biolink:Disease	obsolete hyperestrogenism	OBSOLETE. Abnormally high level of estrogen.	ICD10CM:E28.0|UMLS:C0154209|EFO:0009004|DOID:14336|ICD9:256.0|SCTID:37295009|ICD10WHO:E28.0	mondo.json	hyperestrogenism|estrogen Excess	http://purl.obolibrary.org/obo/MONDO_0001946	DOID:14336|http://identifiers.org/snomedct/37295009|UMLS:C0154209|https://icd.who.int/browse10/2019/en#/E28.0|http://purl.bioontology.org/ontology/ICD10CM/E28.0	
MONDO:0001945	biolink:Disease	postencephalitic Parkinson disease	A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism.	NCIT:C34898|MESH:D010301|Orphanet:97349|UMLS:C0030568|SCTID:19972008|DOID:14332|EFO:1001402	mondo.json	postencephalitic parkinsonism|postencephalitic Parkinsonism	http://purl.obolibrary.org/obo/MONDO_0001945	UMLS:C0030568|DOID:14332|Orphanet:97349|NCIT:C34898|http://identifiers.org/mesh/D010301|http://identifiers.org/snomedct/19972008	ordo_disease
MONDO:0001944	biolink:Disease	mixed malaria	A malaria that involves infection with more than one species of Plasmodium at the same time.	UMLS:C0153121|SCTID:21070001|DOID:14325|ICD9:084.5	mondo.json	malaria by more than one parasite|malaria fever by more than one parasite	http://purl.obolibrary.org/obo/MONDO_0001944	DOID:14325|UMLS:C0153121|http://identifiers.org/snomedct/21070001	
NCBITaxon:52564	biolink:OrganismalEntity	Oesophagostomum		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_52564		
MONDO:0001949	biolink:Disease	acute thyroiditis	Acute form of thyroiditis (disease).	DOID:14353|ICD10CM:E06.0|ICD9:245.0|UMLS:C0001360|SCTID:190293001	mondo.json	thyroiditis (disease), acute|acute thyroiditis (disease)	http://purl.obolibrary.org/obo/MONDO_0001949	http://identifiers.org/snomedct/190293001|http://purl.bioontology.org/ontology/ICD10CM/E06.0|UMLS:C0001360|DOID:14353	
UBERON:0007148	biolink:AnatomicalEntity	lumen of hindgut			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007148		
MONDO:0001948	biolink:Disease	obsolete Riedel's fibrosing thyroiditis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001948		
RO:0009001	biolink:NamedThing	has substance added	"has substance added" is a relation existing between a (physical) entity and a substance in which the entity has had the substance added to it at some point in time.		mondo.json		http://purl.obolibrary.org/obo/RO_0009001		
CL:0000484	biolink:Cell	connective tissue type mast cell	Mast cell subtype whose granules contain both the serine proteases tryptase and chymase. These cells are primarily found in connective tissue, such as the peritoneal cavity, skin, and intestinal submucosa. Their development is T-cell independent.		mondo.json	MC(TC)|TC mast cells|MCTC	http://purl.obolibrary.org/obo/CL_0000484		
CL:0000488	biolink:Cell	visible light photoreceptor cell	A photoreceptor cell that detects visible light.		mondo.json		http://purl.obolibrary.org/obo/CL_0000488		
NCBITaxon:469	biolink:OrganismalEntity	Acinetobacter		PMID:9336926|PMID:9226915|PMID:8934907|GC_ID:11|PMID:7520730|PMID:10028249	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_469		
NCBITaxon:468	biolink:OrganismalEntity	Moraxellaceae		GC_ID:11|PMID:9542079	mondo.json	Acinetobacteraceae|Branhamaceae	http://purl.obolibrary.org/obo/NCBITaxon_468		
ENVO:02000099	biolink:NamedThing	coal dust	Dust which is derived from coal.		mondo.json		http://purl.obolibrary.org/obo/ENVO_02000099		
CL:0000498	biolink:Cell	inhibitory interneuron	An interneuron (also called relay neuron, association neuron or local circuit neuron) is a multipolar neuron which connects afferent neurons and efferent neurons in neural pathways. Like motor neurons, interneuron cell bodies are always located in the central nervous system (CNS).	FMA:84776	mondo.json		http://purl.obolibrary.org/obo/CL_0000498		
CL:0000499	biolink:Cell	stromal cell	A connective tissue cell of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere.	BTO:0002064|FMA:83624	mondo.json		http://purl.obolibrary.org/obo/CL_0000499		
UBERON:0010801	biolink:AnatomicalEntity	calcaneum pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010801		
ENVO:02000091	biolink:NamedThing	coal	A combustible black or brownish-black sedimentary rock usually occurring in rock strata in layers or veins called coal beds or coal seams.		mondo.json		http://purl.obolibrary.org/obo/ENVO_02000091		
CL:0000492	biolink:Cell	CD4-positive helper T cell	A CD4-positive, alpha-beta T cell that cooperates with other lymphocytes via direct contact or cytokine release to initiate a variety of immune functions.	CALOHA:TS-1146|FMA:70572	mondo.json	CD4-positive helper T-cell|CD4-positive helper T lymphocyte|CD4-positive T-helper cell|CD4-positive helper T-lymphocyte	http://purl.obolibrary.org/obo/CL_0000492		
CL:0000467	biolink:Cell	adrenocorticotropic hormone secreting cell	A peptide hormone secreting cell that produces adrenocorticotropin, or corticotropin.		mondo.json	corticotropin secreting cell|adrenocorticotrophic hormone secreting cell|corticotrophin hormone secreting cell|ACTH secreting cell|corticotropin hormone secreting cell	http://purl.obolibrary.org/obo/CL_0000467		
CHEBI:52254	biolink:ChemicalSubstance	apatite	A phosphate mineral with the general formula Ca5(PO4)3X where X = OH, F or Cl.		mondo.json	hydroxyapatite	http://purl.obolibrary.org/obo/CHEBI_52254		
CHEBI:52255	biolink:ChemicalSubstance	hydroxylapatite	A phosphate mineral with the formula Ca5(PO4)3(OH).		mondo.json		http://purl.obolibrary.org/obo/CHEBI_52255		
NCBITaxon:5693	biolink:OrganismalEntity	Trypanosoma cruzi		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5693		
NCBITaxon:5691	biolink:OrganismalEntity	Trypanosoma brucei		GC_ID:1	mondo.json	Trypanosoma brucei subgroup|Trypanosoma (Trypanozoon) brucei	http://purl.obolibrary.org/obo/NCBITaxon_5691		
NCBITaxon:5690	biolink:OrganismalEntity	Trypanosoma		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5690		
NCBITaxon:487	biolink:OrganismalEntity	Neisseria meningitidis		GC_ID:11	mondo.json	Micrococcus intracellularis|Micrococcus meningitidis cerebrospinalis|Micrococcus meningitidis|Neisseria weichselbaumii|Diplokokkus intracellularis meningitidis	http://purl.obolibrary.org/obo/NCBITaxon_487		
NCBITaxon:485	biolink:OrganismalEntity	Neisseria gonorrhoeae		GC_ID:11	mondo.json	Micrococcus gonorrhoeae|Gonococcus neisseri|Micrococcus gonococcus|Micrococcus der gonorrhoe|Diplococcus gonorrhoeae|Merismopedia gonorrhoeae	http://purl.obolibrary.org/obo/NCBITaxon_485		
CL:0000473	biolink:Cell	defensive cell	A cell whose primary function is to protect the organism.		mondo.json		http://purl.obolibrary.org/obo/CL_0000473		
NCBITaxon:482	biolink:OrganismalEntity	Neisseria		PMID:7520730|GC_ID:11	mondo.json	Gonococcus|"Merismopedia" Zopf 1885	http://purl.obolibrary.org/obo/NCBITaxon_482		
NCBITaxon:481	biolink:OrganismalEntity	Neisseriaceae		PMID:23575986|PMID:13983561|PMID:16350128|PMID:8347509|GC_ID:11	mondo.json	Vitreoscillaceae	http://purl.obolibrary.org/obo/NCBITaxon_481		
CL:0000446	biolink:Cell	chief cell of parathyroid gland	An epithelial cell of the parathyroid gland that is arranged in wide, irregular interconnecting columns; responsible for the synthesis and secretion of parathyroid hormone.	FMA:69078|CALOHA:TS-2140|BTO:0004712	mondo.json	principal cell of parathyroid gland|parathyroid chief cell|parathyroid hormone secreting cell|parathyroid gland chief cell	http://purl.obolibrary.org/obo/CL_0000446		
CL:0000447	biolink:Cell	carbohydrate secreting cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000447		
HP:0034059	biolink:PhenotypicFeature	Abnormal fetal physiology	Any functional anomaly of the fetus.		mondo.json	Functional fetal anomaly	http://purl.obolibrary.org/obo/HP_0034059		
HP:0034058	biolink:PhenotypicFeature	Abnormal fetal morphology	Any structural anomaly of the fetus.		mondo.json	Structural fetal anomaly	http://purl.obolibrary.org/obo/HP_0034058		
HP:0034057	biolink:PhenotypicFeature	Fetal anomaly	Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate.		mondo.json		http://purl.obolibrary.org/obo/HP_0034057		
UBERON:0010854	biolink:AnatomicalEntity	skin of front of neck			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010854		
UBERON:0007213	biolink:AnatomicalEntity	mesenchyme derived from head neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007213		
UBERON:0009877	biolink:AnatomicalEntity	metapodium region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009877		
CL:0000440	biolink:Cell	melanocyte stimulating hormone secreting cell	A cell of the intermediate pituitary that produces melanocyte stimulating hormone.	BTO:0002277	mondo.json	melanotroph|melanotrope	http://purl.obolibrary.org/obo/CL_0000440		
UBERON:0009878	biolink:AnatomicalEntity	mesopodial skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009878		
UBERON:0010852	biolink:AnatomicalEntity	fibula pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010852		
UBERON:0009879	biolink:AnatomicalEntity	tarsal skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009879		
CL:0000442	biolink:Cell	follicular dendritic cell	A cell with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue. They are unrelated to the dendritic cell associated with T cells. Follicular dendritic cells have Fc receptors and C3b receptors, but unlike other dendritic cells, they do not process or present antigen in a way that allows recognition by T cells. Instead, they hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response.	FMA:83037|BTO:0004267	mondo.json		http://purl.obolibrary.org/obo/CL_0000442		
CL:0000443	biolink:Cell	calcitonin secreting cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000443		
UBERON:0009870	biolink:AnatomicalEntity	zone of stomach			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009870		
UBERON:0009871	biolink:AnatomicalEntity	nephrogenic zone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009871		
UBERON:0007214	biolink:AnatomicalEntity	mesenchyme derived from trunk neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007214		
ENVO:00002297	biolink:NamedThing	obsolete environmental feature	OBSOLETE A material entity which determines an environmental system.		mondo.json		http://purl.obolibrary.org/obo/ENVO_00002297		
CL:0000457	biolink:Cell	biogenic amine secreting cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000457		
CL:0000458	biolink:Cell	serotonin secreting cell	A cell type that secretes 5-Hydroxytryptamine (serotonin).		mondo.json	5-Hydroxytryptamine secreting cell|5-HT secreting cell	http://purl.obolibrary.org/obo/CL_0000458		
CL:0000459	biolink:Cell	noradrenergic cell	A cell capable of producting norepiniphrine. Norepiniphrine is a catecholamine with multiple roles including as a hormone and a neurotransmitter. In addition, epiniphrine is synthesized from norepiniphrine by the actions of the phenylethanolamine N-methyltransferase enzyme.		mondo.json	noradrenaline secreting cell|norepinephrine secreting cell|norepinephrin secreting cell	http://purl.obolibrary.org/obo/CL_0000459		
UBERON:0010850	biolink:AnatomicalEntity	tibia pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010850		
UBERON:0010851	biolink:AnatomicalEntity	fibula cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010851		
UBERON:0010843	biolink:AnatomicalEntity	clavicle cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010843		
UBERON:0010844	biolink:AnatomicalEntity	clavicle pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010844		
CL:0000451	biolink:Cell	dendritic cell	A cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative).	CALOHA:TS-0194|FMA:83036|BTO:0002042	mondo.json	interdigitating cell|veiled cell	http://purl.obolibrary.org/obo/CL_0000451		
UBERON:0010842	biolink:AnatomicalEntity	calcaneum cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010842		
CL:0000453	biolink:Cell	Langerhans cell	Langerhans cell is a conventional dendritic cell that has plasma membrane part CD207. A Langerhans cell is a stellate dendritic cell of myeloid origin, that appears clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus.	FMA:63072|CALOHA:TS-2375|BTO:0000705	mondo.json	LC|Langerhans' cell	http://purl.obolibrary.org/obo/CL_0000453		
UBERON:0010847	biolink:AnatomicalEntity	ulna pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010847		
CL:0000454	biolink:Cell	epinephrine secreting cell	A cell capable of producing epinephrine. Epiniphrine is synthesized from norepiniphrine by the actions of the phenylethanolamine N-methyltransferase enzyme, which is expressed in the adrenal glands, androgenic neurons, and in other cell types.		mondo.json	adrenaline secreting cell|epinephrin secreting cell	http://purl.obolibrary.org/obo/CL_0000454		
UBERON:0010848	biolink:AnatomicalEntity	radius-ulna cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010848		
CL:0000456	biolink:Cell	mineralocorticoid secreting cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000456		
UBERON:0010846	biolink:AnatomicalEntity	radius pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010846		
UBERON:0010849	biolink:AnatomicalEntity	tibia cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010849		
NCBITaxon:2560194	biolink:OrganismalEntity	Orthoavulavirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2560194		
NCBITaxon:2560195	biolink:OrganismalEntity	Orthorubulavirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2560195		
UBERON:0007204	biolink:AnatomicalEntity	brachiocephalic vasculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0007204		
CHEBI:52214	biolink:ChemicalSubstance	ligand	Any molecule or ion capable of binding to a central metal atom to form coordination complexes.		mondo.json	ligands	http://purl.obolibrary.org/obo/CHEBI_52214		
ENVO:00002264	biolink:NamedThing	waste material	A material which is not the desired output of a process and which is typically the input of a process which removes it from its producer (e.g. a disposal process).		mondo.json		http://purl.obolibrary.org/obo/ENVO_00002264		
GO:0052548	biolink:NamedThing	regulation of endopeptidase activity	Any process that modulates the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins.		mondo.json	protease regulator activity	http://purl.obolibrary.org/obo/GO_0052548		
CHEBI:52217	biolink:ChemicalSubstance	pharmaceutical	Any substance introduced into a living organism with therapeutic or diagnostic purpose.		mondo.json	medicament|farmaco|pharmaceuticals	http://purl.obolibrary.org/obo/CHEBI_52217		
GO:0052547	biolink:NamedThing	regulation of peptidase activity	Any process that modulates the frequency, rate or extent of peptidase activity, the hydrolysis of peptide bonds within proteins.		mondo.json	peptidase regulator activity	http://purl.obolibrary.org/obo/GO_0052547		
ENVO:00002261	biolink:NamedThing	forest soil	A portion of soil which is found in a forested area.		mondo.json		http://purl.obolibrary.org/obo/ENVO_00002261		
UBERON:0009854	biolink:AnatomicalEntity	digestive tract diverticulum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009854		
UBERON:0009856	biolink:AnatomicalEntity	sac			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009856		
HGNC:5401	biolink:NamedThing	SP110			mondo.json		http://identifiers.org/hgnc/5401		
CHEBI:52210	biolink:ChemicalSubstance	pharmacological role	A biological role which describes how a drug interacts within a biological system and how the interactions affect its medicinal properties.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_52210		
CHEBI:52211	biolink:ChemicalSubstance	physiological role			mondo.json		http://purl.obolibrary.org/obo/CHEBI_52211		
UBERON:0009853	biolink:AnatomicalEntity	body of uterus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009853		
CHEBI:52208	biolink:ChemicalSubstance	biophysical role			mondo.json		http://purl.obolibrary.org/obo/CHEBI_52208		
CHEBI:52209	biolink:ChemicalSubstance	aetiopathogenetic role	A role played by the molecular entity or part thereof which causes the development of a pathological process.		mondo.json	etiopathogenetic agent|etiopathogenetic role	http://purl.obolibrary.org/obo/CHEBI_52209		
UBERON:5002389	biolink:AnatomicalEntity	manual digit plus metapodial segment			mondo.json		http://purl.obolibrary.org/obo/UBERON_5002389		
CHEBI:52206	biolink:ChemicalSubstance	biochemical role	A biological role played by the molecular entity or part thereof within a biochemical context.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_52206		
CL:0000438	biolink:Cell	luteinizing hormone secreting cell	A peptide hormone secreting cell pituitary that produces luteinizing hormone.		mondo.json		http://purl.obolibrary.org/obo/CL_0000438		
CL:0000439	biolink:Cell	prolactin secreting cell	A peptide hormone cell that secretes prolactin.		mondo.json		http://purl.obolibrary.org/obo/CL_0000439		
UBERON:0009843	biolink:AnatomicalEntity	prostate epithelial cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009843		
UBERON:0009844	biolink:AnatomicalEntity	urogenital sinus lumen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009844		
UBERON:0009845	biolink:AnatomicalEntity	urogenital sinus mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009845		
UBERON:0009846	biolink:AnatomicalEntity	embryonic cloacal epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009846		
UBERON:0009847	biolink:AnatomicalEntity	prostate field			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009847		
HGNC:5414	biolink:NamedThing	IFITM3			mondo.json		http://identifiers.org/hgnc/5414		
CL:0000432	biolink:Cell	reticular cell	Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum.	FMA:62877	mondo.json	reticulum cell	http://purl.obolibrary.org/obo/CL_0000432		
UBERON:0009842	biolink:AnatomicalEntity	glandular acinus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009842		
MONDO:0035383	biolink:Disease	FOXG1 syndrome	A rare genetic neurological disorder characterized by early onset of microcephaly, severe global developmental delay and cognitive impairment, dyskinesia and hyperkinetic movements, visual impairment, autistic behavior, stereotypies, sleep disturbance, epilepsy, and cerebral malformations (such as corpus callosum hypogenesis, forebrain anomaly, and delayed myelination). Speech is minimal or absent, and ambulation is not attained. Patients with a larger 14q12 microdeletion show a more severe phenotype than those with intragenic alterations, with the addition of facial dysmorphism and agenesis of the corpus callosum.	Orphanet:561854|ICD10CM:F84.8	mondo.json	FOXG1-related epileptic-dyskinetic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0035383	Orphanet:561854	ordo_disorder
NCBITaxon:134362	biolink:OrganismalEntity	Capnodiales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_134362		
ENVO:01000032	biolink:NamedThing	neritic pelagic zone biome	The neritic epipelagic zone biome comprises the marine water column above a continental shelf.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000032		
ENVO:01000033	biolink:NamedThing	oceanic pelagic zone biome	The oceanic epipelagic zone biome comprises the marine water column offshore, beyond a continental shelf.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000033		
ENVO:01000034	biolink:NamedThing	oceanic sea surface microlayer biome	The oceanic sea surface microlayer (SML) biome comprises the top 1000 micrometers of the marine surface waters occurring offshore, away from a continental shelf. It is the boundary layer where all exchange occurs between the atmosphere and the ocean. The chemical, physical, and biological properties of the SML differ greatly from the sub-surface water just a few centimeters beneath.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000034		
MONDO:0023388	biolink:Disease	pityriasis rotunda	Pityriasis rotunda is a rare skindisease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda.	GARD:0010904|UMLS:C0343060|SCTID:238639005	mondo.json	Pityriasis rotunda	http://purl.obolibrary.org/obo/MONDO_0023388	http://identifiers.org/snomedct/238639005|UMLS:C0343060	gard_rare
HP:0009064	biolink:PhenotypicFeature	Generalized lipodystrophy	Generalized degenerative changes of the fat tissue.	UMLS:C0221032|SNOMEDCT_US:284449005|MSH:D052497|SNOMEDCT_US:86907008	mondo.json	Generalised lipodystrophy|Lipodystrophy, generalized|Lipodystrophy, generalised	http://purl.obolibrary.org/obo/HP_0009064		
ENVO:01000023	biolink:NamedThing	marine pelagic biome	The marine pelagic biome (pelagic meaning open sea) is that of the marine water column, from the surface to the greatest depths.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000023		
NCBITaxon:555406	biolink:OrganismalEntity	Archamoebae		PMID:23020233|GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_555406		
NCBITaxon:555407	biolink:OrganismalEntity	Centramoebida		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_555407		
MONDO:0035398	biolink:Disease	obsolete hypomyelination of early myelinating structures		Orphanet:599376	mondo.json	HEMS	http://purl.obolibrary.org/obo/MONDO_0035398	Orphanet:599376	ordo_disease
MONDO:0023370	biolink:Disease	neoplastic disease or syndrome	Either an isolated neoplasm or a syndrome with neoplasm as a major feature.		mondo.json	neoplastic disorder|neoplastic disease	http://purl.obolibrary.org/obo/MONDO_0023370		
MONDO:0011397	biolink:Disease	autosomal dominant cerebellar ataxia, deafness and narcolepsy	Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.	GARD:0012372|DOID:0050968|OMIM:604121|Orphanet:314404|UMLS:CN203753	mondo.json	autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome|autosomal dominant cerebellar ataxia, deafness and narcolepsy|ADCADN|autosomal dominant cerebellar ataxia, deafness, and narcolepsy|cerebellar ataxia, deafness, and narcolepsy, autosomal dominant|ADCA-DN syndrome|ADCA-DN	http://purl.obolibrary.org/obo/MONDO_0011397	DOID:0050968|Orphanet:314404|UMLS:CN203753|https://omim.org/entry/604121	gard_rare|ordo_disease
MONDO:0011396	biolink:Disease	loricrin keratoderma	A diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.	UMLS:C1858805|MESH:C565826|SCTID:717183001|Orphanet:79395|OMIM:604117	mondo.json	keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome|Camisa disease|mutilating keratoderma with ichthyosis|Vohwinkel syndrome, variant form|loricrin keratoderma|Vohwinkel syndrome with ichthyosis|keratoderma hereditarium mutilans with ichthyosis	http://purl.obolibrary.org/obo/MONDO_0011396	Orphanet:79395|http://identifiers.org/mesh/C565826|UMLS:C1858805|https://omim.org/entry/604117|http://identifiers.org/snomedct/717183001	ordo_disease
MONDO:0011399	biolink:Disease	alpha thalassemia	Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.	DOID:1099|ICD10CM:D56.0|ICD9:282.43|MESH:D017085|MedDRA:10043390|OMIM:604131|NCIT:C34368|ICD9:282.49|UMLS:C0002312|Orphanet:846|GARD:0000621|SCTID:68913001	mondo.json	A-thalassemia|thalassemia, alpha-|thalassemias, alpha-|alpha-thalassemia|alpha thalassemia|Alpha thalassaemia	http://purl.obolibrary.org/obo/MONDO_0011399	Orphanet:846|DOID:1099|http://identifiers.org/mesh/D017085|http://identifiers.org/snomedct/68913001|UMLS:C0002312|http://purl.bioontology.org/ontology/ICD10CM/D56.0|https://omim.org/entry/604131|NCIT:C34368	ordo_disease
MONDO:0011398	biolink:Disease	dystrophic epidermolysis bullosa pruriginosa	Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.	ICD9:757.39|MESH:C563192|Orphanet:89843|SCTID:403810008|UMLS:C1275114|OMIM:604129	mondo.json	pruriginous dystrophic epidermolysis bullosa|Deb, pruriginosa|DEB-Pr|epidermolysis bullosa pruriginosa|DEB, pruriginosa|dystrophic epidermolysis bullosa pruriginosa	http://purl.obolibrary.org/obo/MONDO_0011398	UMLS:C1275114|http://identifiers.org/mesh/C563192|http://identifiers.org/snomedct/403810008|Orphanet:89843|https://omim.org/entry/604129	ordo_disease
CHEBI:78840	biolink:ChemicalSubstance	olefinic compound	Any organic molecular entity that contains at least one C=C bond.		mondo.json	olefinic compounds	http://purl.obolibrary.org/obo/CHEBI_78840		
MONDO:0011391	biolink:Disease	megalencephalic leukoencephalopathy with subcortical cysts	Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.	UMLS:CN176898|MESH:C536141|SCTID:703536004|DOID:0080315|GARD:0003445|Orphanet:2478	mondo.json	megalencephaly-cystic leukodystrophy|megalencephalic leukodystrophy|Vacuolating megalencephalic leukoencephalopathy with subcortical cysts|megalencephalic leukoencephalopathy with subcortical cysts 1|MLC|MLC1|megalencephalic leukoencephalopathy with subcortical cysts type 1|Van der Knaap syndrome|megalencephaly-cystic leukodystrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0011391	Orphanet:2478|DOID:0080315|http://identifiers.org/mesh/C536141|http://identifiers.org/snomedct/703536004|UMLS:CN176898	ordo_disease|gard_rare
MONDO:0011390	biolink:Disease	focal segmental glomerulosclerosis 2	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene.	OMIM:603965|MESH:C565831|DOID:0111129|UMLS:C1858915	mondo.json	focal segmental glomerulosclerosis type 2|focal segmental glomerulosclerosis caused by mutation in TRPC6|glomerulosclerosis, focal segmental, 2|focal segmental glomerulosclerosis 2|TRPC6 focal segmental glomerulosclerosis|FSGS2	http://purl.obolibrary.org/obo/MONDO_0011390	UMLS:C1858915|DOID:0111129|http://identifiers.org/mesh/C565831|https://omim.org/entry/603965	
MONDO:0011393	biolink:Disease	hypoalphalipoproteinemia, primary, 1	Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene.	OMIM:604091|GARD:0002872	mondo.json	hypoalphalipoproteinemia, primary|HDLD|FHD|hypoalphalipoproteinemia, familial|FHA|HDL cholesterol, Low serum|HDL deficiency, familial, 1|high density lipoprotein deficiency|familial HDL deficiency	http://purl.obolibrary.org/obo/MONDO_0011393	https://omim.org/entry/604091	
MONDO:0011392	biolink:Disease	autosomal recessive nonsyndromic hearing loss 20	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11q25-qter.	DOID:0110478|MESH:C565828|OMIM:604060|UMLS:C1858840	mondo.json	autosomal recessive deafness 20|autosomal recessive nonsyndromic deafness type 20|autosomal recessive nonsyndromic deafness 20|deafness, autosomal recessive 20|DFNB20	http://purl.obolibrary.org/obo/MONDO_0011392	UMLS:C1858840|https://omim.org/entry/604060|http://identifiers.org/mesh/C565828|DOID:0110478	
MONDO:0011395	biolink:Disease	cone-rod dystrophy 3	Any cone-rod dystrophy in which the cause of the disease is a mutation in the ABCA4 gene.	OMIM:604116|MESH:C565827|DOID:0111013|GARD:0010653|UMLS:C1858806	mondo.json	cone-rod dystrophy caused by mutation in ABCA4|cone-rod dystrophy 3|cone-rod dystrophy type 3|CORD3|ABCA4 cone-rod dystrophy	http://purl.obolibrary.org/obo/MONDO_0011395	http://identifiers.org/mesh/C565827|UMLS:C1858806|https://omim.org/entry/604116|DOID:0111013	gard_rare
MONDO:0011394	biolink:Disease	obsolete keratosis pilaris atrophicans			mondo.json		http://purl.obolibrary.org/obo/MONDO_0011394		
MONDO:0023368	biolink:Disease	Ho-Kaufman-McAlister syndrome	Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet	UMLS:C2931819|GARD:0001266|MESH:C538325	mondo.json	cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet|Ho Kaufman McAlister syndrome	http://purl.obolibrary.org/obo/MONDO_0023368	UMLS:C2931819|http://identifiers.org/mesh/C538325	gard_rare
MONDO:0023369	biolink:Disease	disorder of facial skeleton	A disease that involves the facial skeleton.		mondo.json	facial skeleton disease|disease or disorder of facial skeleton|facial skeleton disease or disorder|disease of facial skeleton|maxillo-facial disease|maxillofacial anomaly|disorder of facial skeleton	http://purl.obolibrary.org/obo/MONDO_0023369		
ENVO:01000048	biolink:NamedThing	ocean biome	A marine biome which is determined by an ocean.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000048		
MONDO:0011386	biolink:Disease	microvascular complications of diabetes, susceptibility to, 1	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the VEGFA gene.	OMIM:603933	mondo.json	microvascular complications of diabetes, susceptibility to, 1|microvascular complications of diabetes, protection against|microvascular complications of diabetes, susceptibility to|microvascular complications of diabetes 1|proliferative retinopathy, diabetic, susceptibility to|nephropathy, diabetic, susceptibility to|VEGFA microvascular complications of diabetes, susceptibility|neuropathy, diabetic, susceptibility to|nonproliferative retinopathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility caused by mutation in VEGFA|microvascular complications of diabetes, susceptibility to, type 1|MVCD1|end-stage renal disease, diabetic, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0011386	https://omim.org/entry/603933	predisposition
MONDO:0011385	biolink:Disease	intervertebral disc degenerative disorder	Any disease of a degenerative nature that affects the intervertebral disc.	MESH:D055959|DOID:90|ICD9:722.6|SCTID:77547008|NCIT:C26983|UMLS:C0158266	mondo.json	degenerative disc disease|intervertebral Disc degenerative disease|intervertebral disc degeneration|vertebral Disc degenerative disease|degenerative disorder of intervertebral disk|IDD|vertebral disc disease|vertebral Disc degenerative disorder|intervertebral Disc degenerative disorder|intervertebral disc disease|cervical disc degenerative disease|intervertebral Disc Degeneration|intervertebral disk degenerative disorder|lumbar disc degeneration	http://purl.obolibrary.org/obo/MONDO_0011385	DOID:90|NCIT:C26983|http://identifiers.org/snomedct/77547008|UMLS:C0158266|http://identifiers.org/mesh/D055959	
MONDO:0011388	biolink:Disease	obsolete cervical cancer			mondo.json	cervical cancer	http://purl.obolibrary.org/obo/MONDO_0011388		
MONDO:0011387	biolink:Disease	psoriasis 4, susceptibility to		DOID:0111280|OMIM:603935	mondo.json	psoriasis 4, susceptibility to|PSORS4|psoriasis susceptibility 4	http://purl.obolibrary.org/obo/MONDO_0011387	DOID:0111280|https://omim.org/entry/603935	
MONDO:0011389	biolink:Disease	autosomal dominant nonsyndromic hearing loss 16	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3.	DOID:0110547|UMLS:C1858916|MESH:C565832|OMIM:603964	mondo.json	autosomal dominant deafness 16|autosomal dominant nonsyndromic deafness 16|DFNA16|autosomal dominant nonsyndromic deafness type 16|deafness, autosomal dominant 16	http://purl.obolibrary.org/obo/MONDO_0011389	http://identifiers.org/mesh/C565832|DOID:0110547|https://omim.org/entry/603964|UMLS:C1858916	
NCBITaxon:122354	biolink:OrganismalEntity	Mansonella ozzardi		GC_ID:1	mondo.json	Mansonella (Mansonella) ozzardi	http://purl.obolibrary.org/obo/NCBITaxon_122354		
MONDO:0011380	biolink:Disease	leukoencephalopathy with vanishing white matter	A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect.	GARD:0000231|SCTID:447351004|UMLS:CN199219|OMIM:603896|NCIT:C122664|DOID:0060868|UMLS:C1858991|Orphanet:135	mondo.json	CACH/VWM syndrome|CACH syndrome|CACH/VWM|Cree leukoencephalopathy|vanishing White matter leukodystrophy with ovarian failure|childhood ataxia with diffuse central nervous system hypomyelination|leukoencephalopathy with vanishing white matter|Cree leukoencehalopathy|CACH|vanishing white matter disease|leukoencephalopathy with vanishing WHITE matter|vanishing White matter leukodystrophy|myelinosis centralis diffusa|ovarioleukodystrophy|vanishing white matter leukodystrophy|childhood ataxia with central nervous system hypomyelination/vanishing white matter|childhood ataxia with central nervous system hypomyelinization|VWM|childhood ataxia with central nervous system hypomyelination	http://purl.obolibrary.org/obo/MONDO_0011380	https://omim.org/entry/603896|DOID:0060868|NCIT:C122664|UMLS:C1858991|Orphanet:135|http://identifiers.org/snomedct/447351004|UMLS:CN199219	ordo_disease
ENVO:01000044	biolink:NamedThing	marine pelagic feature	A prominent or distinctive aspect, quality, or characteristic of environments occurring within the marine water column.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000044		
MONDO:0011382	biolink:Disease	sickle cell anemia	Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.	GARD:0008614|MESH:D000755|Orphanet:232|UMLS:C0002895|OMIM:603903|UMLS:C0019034|ICD9:282.63|MedDRA:10040641|NCIT:C34383|ICD9:282.6|EFO:1001797|ICD9:282.60|DOID:10923	mondo.json	Hb SC disease|Hemoglobin S disease without crisis|sickle cell disease|hemoglobin SC disease|sickle-cell/Hb-C disease without crisis|sickle cell anemia|Hb-SS disease without crisis|Hb-S/Hb-C disease|Hemoglobin S disease|sickling disorder due to Hemoglobin S|HbS disease|drepanocytosis	http://purl.obolibrary.org/obo/MONDO_0011382	https://omim.org/entry/603903|DOID:10923|UMLS:C0002895|NCIT:C34383|Orphanet:232|http://identifiers.org/mesh/D000755	ordo_disease
MONDO:0011381	biolink:Disease	dominant beta-thalassemia	Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia.	SCTID:716682000|Orphanet:231226|UMLS:C1858990|MESH:C565834|OMIM:603902|UMLS:C4274391	mondo.json	thalassemia-beta, dominant inclusion-body|inclusion body beta-thalassemia|dyserythropoietic Anemia, congenital, Irish or Weatherall type|beta-thalassemia, dominant inclusion body type	http://purl.obolibrary.org/obo/MONDO_0011381	http://identifiers.org/mesh/C565834|https://omim.org/entry/603902|UMLS:C4274391|Orphanet:231226|http://identifiers.org/snomedct/716682000|UMLS:C1858990	ordo_clinical_subtype
MONDO:0011384	biolink:Disease	hypertension, essential, susceptibility to, 1		OMIM:603918	mondo.json	hypertension, essential, susceptibility to, type 1|Hyt1|hypertension, essential, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0011384	https://omim.org/entry/603918	predisposition
MONDO:0011383	biolink:Disease	autoimmune lymphoproliferative syndrome type 2A	A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.	OMIM:603909|DOID:0110115|MESH:C565833|UMLS:C1519709|UMLS:C1858968|NCIT:C39576	mondo.json	ALPS2A|autoimmune lymphoproliferative syndrome caused by mutation in CASP10|autoimmune lymphoproliferative syndrome, type 2|ALPS-CASP10|type 2 autoimmune lymphoproliferative syndrome|autoimmune lymphoproliferative syndrome, type 2A|autoimmune lymphoproliferative syndrome type IIA|autoimmune lymphoproliferative syndrome, type II|autoimmune lymphoproliferative syndrome, type IIA|CASP10 autoimmune lymphoproliferative syndrome|autoimmune lymphoproliferative syndrome-CASP10 variant|type 2 ALPS	http://purl.obolibrary.org/obo/MONDO_0011383	http://identifiers.org/mesh/C565833|https://omim.org/entry/603909|UMLS:C1519709|NCIT:C39576|UMLS:C1858968|DOID:0110115	
ENVO:01000041	biolink:NamedThing	neritic sea surface microlayer biome	The neritic sea surface microlayer (SML) biome comprises the top 1000 micrometers of marine surface waters occurring above a continental shelf. It is the boundary layer where all exchange occurs between the atmosphere and the ocean. The chemical, physical, and biological properties of the SML differ greatly from the sub-surface water just a few centimeters beneath.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000041		
ENVO:00002202	biolink:NamedThing	organically enriched sediment	Chemically-enriched sediment which has increased levels of organic compounds.		mondo.json		http://purl.obolibrary.org/obo/ENVO_00002202		
CHEBI:76206	biolink:ChemicalSubstance	xenobiotic metabolite	Any metabolite produced by metabolism of a xenobiotic compound.		mondo.json	xenobiotic metabolites	http://purl.obolibrary.org/obo/CHEBI_76206		
OBA:VT0010454	biolink:NamedThing	organism trait	The quality when measured in multicellular organism.		mondo.json	multicellular organism quality	http://purl.obolibrary.org/obo/OBA_VT0010454		
MONDO:0035340	biolink:Disease	obsolete rare disorder with hirschsprung disease as a major feature		Orphanet:557866	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035340	Orphanet:557866	
MONDO:0035349	biolink:Disease	localized dystrophic epidermolysis bullosa	A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form). This disease can be inherited via autosomal dominant or autosomal recessive inheritance.	Orphanet:595356	mondo.json	localized DEB	http://purl.obolibrary.org/obo/MONDO_0035349	Orphanet:595356	ordo_disease
MONDO:0035345	biolink:Disease	chronic bilirubin encephalopathy	A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.	Orphanet:529808	mondo.json	CBE|Bilirubin-induced neurological dysfunction|Kernicterus spectrum disorder|BIND|KSD	http://purl.obolibrary.org/obo/MONDO_0035345	Orphanet:529808	ordo_disorder
MONDO:0035344	biolink:Disease	acute bilirubin encephalopathy	A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Especially respiratory failure or refractory seizures may lead to a fatal outcome.	Orphanet:529799	mondo.json	ABE|Acute kernicterus	http://purl.obolibrary.org/obo/MONDO_0035344	Orphanet:529799	ordo_disorder
ENVO:00002203	biolink:NamedThing	inorganically enriched sediment	Chemically-enriched sediment which has increased levels of inorganic compounds.		mondo.json		http://purl.obolibrary.org/obo/ENVO_00002203		
MONDO:0035350	biolink:Disease	letrozole toxicity		Orphanet:529831	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035350	Orphanet:529831	ordo_disorder
MONDO:0035357	biolink:Disease	portosinusoidal vascular disease		Orphanet:596937	mondo.json	PSVD	http://purl.obolibrary.org/obo/MONDO_0035357	Orphanet:596937	ordo_disease
MONDO:0035354	biolink:Disease	obsolete IgG4-related systemic disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0035354		
ENVO:01000017	biolink:NamedThing	sand	A naturally occurring granular material composed of finely divided rock and mineral particles.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000017		
CHR:9606-chr1p21	biolink:NamedThing	1p21 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr1p21		
ENVO:01000016	biolink:NamedThing	silt	Silt is granular material of a size somewhere between sand and clay whose mineral origin is quartz and feldspar.		mondo.json		http://purl.obolibrary.org/obo/ENVO_01000016		
MONDO:0035363	biolink:Disease	obsolete IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0035363		
MONDO:0035362	biolink:Disease	TRIM22-related inflammatory bowel disease	Any inflammatory bowel disease in which the cause of the disease is a mutation in the TRIM22 gene.	Orphanet:597201	mondo.json	TRIM22-related IBD	http://purl.obolibrary.org/obo/MONDO_0035362	Orphanet:597201	ordo_disease
ENVO:01000010	biolink:NamedThing	obsolete abiotic mesoscopic physical object			mondo.json		http://purl.obolibrary.org/obo/ENVO_01000010		
MONDO:0035369	biolink:Disease	obsolete MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0035369		
CHR:9606-chr1p36	biolink:NamedThing	1p36 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr1p36		
CHR:9606-chr1p35	biolink:NamedThing	1p35 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr1p35		
NCBITaxon:444	biolink:OrganismalEntity	Legionellaceae		PMID:434652|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_444		
NCBITaxon:446	biolink:OrganismalEntity	Legionella pneumophila		PMID:434652|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_446		
NCBITaxon:445	biolink:OrganismalEntity	Legionella		PMID:9734026|PMID:434652|GC_ID:11|PMID:8573522|PMID:16166707	mondo.json	Sarcobium	http://purl.obolibrary.org/obo/NCBITaxon_445		
MONDO:0035375	biolink:Disease	multisystem inflammatory syndrome in children and adults		Orphanet:598363	mondo.json	MIS-C/A	http://purl.obolibrary.org/obo/MONDO_0035375	Orphanet:598363	ordo_disease
MONDO:0035370	biolink:Disease	ALPI-related inflammatory bowel disease	Any inflammatory bowel disease in which the cause of the disease is a mutation in the ALPI gene.	Orphanet:597887	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035370	Orphanet:597887	ordo_disease
MONDO:0001884	biolink:Disease	abducens nerve neoplasm	A neoplasm involving a abducens nerve.	SCTID:126972009|UMLS:C1263898|ICD9:239.7|DOID:14125|NCIT:C5826	mondo.json	neoplasm of abducens nerve|abducens nerve tumor|neoplasm of the abducens nerve|VIth cranial nerve tumors|abducens nerve tumors|tumor of the sixth cranial nerve|tumor of sixth cranial nerve|sixth cranial nerve neoplasm|abducens nerve neoplasms|sixth cranial nerve tumors|abducens nerve neoplasm (disease)|tumor of the abducens nerve|neoplasm of the sixth cranial nerve|neoplasm of sixth cranial nerve|sixth cranial nerve tumor|VIth cranial nerve neoplasms|tumor of abducens nerve|sixth cranial nerve neoplasms	http://purl.obolibrary.org/obo/MONDO_0001884	DOID:14125|UMLS:C1263898|http://identifiers.org/snomedct/126972009|NCIT:C5826	
MONDO:0001883	biolink:Disease	blue toe syndrome	A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation.	DOID:14121|UMLS:C0242645|MESH:D018438	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001883	UMLS:C0242645|DOID:14121|http://identifiers.org/mesh/D018438	
MONDO:0001882	biolink:Disease	bacteriuria	The presence of bacteria in the urine which is normally bacteria-free. These bacteria are from the urinary tract and are not contaminants of the surrounding tissues. Bacteriuria can be symptomatic or asymptomatic. Significant bacteriuria is an indicator of urinary tract infection.	DOID:1412|UMLS:C0004659|MESH:D001437|CSP:3045-9976|HP:0012461|MedDRA:10004056	mondo.json	bacteriuria|bacteriuria (disease)	http://purl.obolibrary.org/obo/MONDO_0001882	http://identifiers.org/mesh/D001437|DOID:1412|UMLS:C0004659	
HGNC:19042	biolink:NamedThing	MASTL			mondo.json		http://identifiers.org/hgnc/19042		
MONDO:0001881	biolink:Disease	toxic shock syndrome	A rare acute life-threatening systemic bacterial noncontagious illness caused by exotoxins from bacteria of either the Streptococcus pyogenes or Staphylococcus aureus type. It is characterized by high fever, hypotension, rash, multi-organ dysfunction, and cutaneous desquamation during the early convalescent period. The toxins affect the host immune system, causing an exuberant and pathological host inflammatory response. Laboratory findings include leukocytosis, elevated prothrombin time, hypoalbuminemia, hypocalcemia, and pyuria.	UMLS:C0600327|UMLS:CN204669|ICD9:040.82|GARD:0009560|NCIT:C35498|MESH:D012772|SCTID:18504008|ICD10CM:A48.3|DOID:14115|Orphanet:36234	mondo.json	staphylococcal toxic shock syndrome|shock syndrome (TSS), toxic|syndrome (TSS), toxic shock|bacterial TSS|toxic shock|TSS|toxic shock syndrome, (TSS)|TSS, toxic shock syndrome|toxic shock syndrome|bacterial toxic-shock syndrome	http://purl.obolibrary.org/obo/MONDO_0001881	NCIT:C35498|DOID:14115|http://identifiers.org/mesh/D012772|http://purl.bioontology.org/ontology/ICD10CM/A48.3|Orphanet:36234|http://identifiers.org/snomedct/18504008|UMLS:C0600327|UMLS:CN204669	ordo_disease
MONDO:0001888	biolink:Disease	anus lymphoma	A usually large cell non-Hodgkin lymphoma of B-cell phenotype, arising from the anus. Lymphomas originating from the anal region are rare in the general population, but they are seen with a higher frequency in HIV-positive patients, particularly homosexual men.	NCIT:C5601|UMLS:C1332268|DOID:14139	mondo.json	lymphoma of the anus|anus lymphoma|lymphoma of anus|primary anal lymphoma|anal lymphoma	http://purl.obolibrary.org/obo/MONDO_0001888	UMLS:C1332268|DOID:14139|NCIT:C5601	
MONDO:0001887	biolink:Disease	Allen-Masters syndrome	A syndrome characterized by laceration in the posterior leaf of broad ligament along with abnormally mobile cervix.	DOID:14133|ICD9:620.6|UMLS:C0152079|SCTID:69186005	mondo.json	Broad ligament laceration syndrome|Masters-Allen syndrome	http://purl.obolibrary.org/obo/MONDO_0001887	DOID:14133|http://identifiers.org/snomedct/69186005|UMLS:C0152079	
HGNC:19041	biolink:NamedThing	COQ8B			mondo.json		http://identifiers.org/hgnc/19041		
MONDO:0001886	biolink:Disease	midline cystocele		DOID:14131|ICD10CM:N81.11|ICD9:618.01|UMLS:C1456248|SCTID:423633003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001886	DOID:14131|http://purl.bioontology.org/ontology/ICD10CM/N81.11|UMLS:C1456248|http://identifiers.org/snomedct/423633003	
MONDO:0001885	biolink:Disease	lateral cystocele		UMLS:C2711750|DOID:14130|ICD9:618.02|ICD10CM:N81.12|SCTID:441891001	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001885	http://identifiers.org/snomedct/441891001|DOID:14130|http://purl.bioontology.org/ontology/ICD10CM/N81.12|UMLS:C2711750	
MONDO:0011207	biolink:Disease	xanthomatosis, susceptibility to		UMLS:C1865704|OMIM:602247	mondo.json	xanthomatosis, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0011207	UMLS:C1865704|https://omim.org/entry/602247	predisposition
MONDO:0011206	biolink:Disease	ventriculomegaly with defects of the radius and kidney		UMLS:C1865780|MESH:C566565|OMIM:602200	mondo.json	ventriculomegaly with defects of the radius and kidney	http://purl.obolibrary.org/obo/MONDO_0011206	UMLS:C1865780|http://identifiers.org/mesh/C566565|https://omim.org/entry/602200	
MONDO:0013868	biolink:Disease	porokeratosis 7, multiple types		OMIM:614714	mondo.json	POROK7|porokeratosis 7, disseminated superficial actinic type|porokeratosis 7, multiple types	http://purl.obolibrary.org/obo/MONDO_0013868	https://omim.org/entry/614714	
MONDO:0011209	biolink:Disease	progeroid facial appearance with hand anomalies		UMLS:C1865699|OMIM:602249|MESH:C566563	mondo.json	progeroid facial appearance with hand anomalies	http://purl.obolibrary.org/obo/MONDO_0011209	UMLS:C1865699|http://identifiers.org/mesh/C566563|https://omim.org/entry/602249	
MONDO:0013869	biolink:Disease	adenine phosphoribosyltransferase deficiency	Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.	Orphanet:976|NCIT:C121564|SCTID:124274002|GARD:0010666|GARD:0000546|UMLS:C0268120|MESH:C538228|OMIM:614723|DOID:0060350	mondo.json	adenine phosphoribosyltransferase deficiency|nephrolithiasis, Dha|Dihydroxyadeninuria|urolithiasis, 2,8-dihydroxyadenine|2,8-dihydroxyadenine urolithiasis|APRT deficiency|urolithiasis, Dha|APRTD|2,8-dihydroxyadeninuria disease	http://purl.obolibrary.org/obo/MONDO_0013869	https://omim.org/entry/614723|UMLS:C0268120|http://identifiers.org/mesh/C538228|NCIT:C121564|Orphanet:976|DOID:0060350|http://identifiers.org/snomedct/124274002	gard_rare|ordo_disease
MONDO:0011208	biolink:Disease	malignant atrophic papulosis	Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.	MedDRA:10064281|SCTID:400171002|MESH:D054853|Orphanet:679|OMIM:602248|NCIT:C84835|UMLS:C0221011|GARD:0006249|ICD9:447.8	mondo.json	Kohlmeier-Degos disease|Köhlmeier-Degos disease|malignant atrophic papulosis|Kohlmeier-Degos-Delort-Tricort syndrome|papulosis, malignant atrophic|Degos disease|Degos syndrome|papulosis atrophican maligna|atrophic papulosis, malignant|Köhlmeier-Degos-Delort-Tricort syndrome|Degos's malignant atrophic papulosis	http://purl.obolibrary.org/obo/MONDO_0011208	NCIT:C84835|Orphanet:679|http://identifiers.org/mesh/D054853|UMLS:C0221011|https://omim.org/entry/602248|http://identifiers.org/snomedct/400171002	ordo_disease
MONDO:0001880	biolink:Disease	median rhomboid glossitis		SCTID:7522008|ICD10CM:K14.2|DOID:14111|ICD9:750.19|ICD9:529.2	mondo.json	persistent tuberculum impar	http://purl.obolibrary.org/obo/MONDO_0001880	http://identifiers.org/snomedct/7522008|DOID:14111|http://purl.bioontology.org/ontology/ICD10CM/K14.2	
MONDO:0013873	biolink:Disease	IMAGe syndrome	IMAGe syndrome is characterized by the association of intrauterine growth retardation, metaphyseal dysplasia (and short limbs), adrenal hypoplasia congenita, and genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.	ICD9:759.89|OMIM:614732|Orphanet:85173|DOID:0050885|GARD:0012312|NCIT:C130988|SCTID:702384004|UMLS:C1846009	mondo.json	IMAGe syndrome|intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies|intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies|intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities	http://purl.obolibrary.org/obo/MONDO_0013873	Orphanet:85173|http://identifiers.org/snomedct/702384004|DOID:0050885|NCIT:C130988|https://omim.org/entry/614732|UMLS:C1846009	ordo_malformation_syndrome|gard_rare
MONDO:0011210	biolink:Disease	mitochondrial intermembrane space protein Tim12, yeast, homolog of		OMIM:602252	mondo.json	mitochondrial intermembrane space protein Tim12, yeast, homolog of	http://purl.obolibrary.org/obo/MONDO_0011210	https://omim.org/entry/602252	
MONDO:0013874	biolink:Disease	glucocorticoid deficiency 4	Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene.	NCIT:C131452|OMIM:614736|UMLS:C3553587	mondo.json	glucocorticoid deficiency 4 with or without mineralocorticoid deficiency|glucocorticoid deficiency 4, with or without mineralocorticoid deficiency|GCCD4|familial glucocorticoid deficiency caused by mutation in NNT|NNT familial glucocorticoid deficiency|glucocorticoid deficiency 4|glucocorticoid deficiency type 4	http://purl.obolibrary.org/obo/MONDO_0013874	NCIT:C131452|UMLS:C3553587|https://omim.org/entry/614736	
HGNC:5389	biolink:NamedThing	IDS			mondo.json		http://identifiers.org/hgnc/5389		
OBO:ECTO_0500025	biolink:NamedThing	exposure to manufactured product	A exposure event involving the interaction of an exposure receptor to manufactured product.		mondo.json	manufactured product exposure	http://purl.obolibrary.org/obo/ECTO_0500025		
MONDO:0013871	biolink:Disease	Seckel syndrome 6	Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene.	DOID:0070006|UMLS:C3553582|OMIM:614728	mondo.json	Seckel syndrome caused by mutation in CEP63|Seckel syndrome type 6|CEP63 Seckel syndrome|Seckel syndrome 6|SCKL6	http://purl.obolibrary.org/obo/MONDO_0013871	UMLS:C3553582|https://omim.org/entry/614728|DOID:0070006	
MONDO:0011212	biolink:Disease	sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth		UMLS:C1865645|MESH:C566560|OMIM:602340	mondo.json	sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth	http://purl.obolibrary.org/obo/MONDO_0011212	http://identifiers.org/mesh/C566560|https://omim.org/entry/602340|UMLS:C1865645	
MONDO:0011211	biolink:Disease	axial spondylometaphyseal dysplasia	Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion.	MESH:C535795|UMLS:C1865695|GARD:0008720|Orphanet:168549|OMIM:602271	mondo.json	SmD axial|spondylometaphyseal dysplasia axial type|SMDAX|spondylometaphyseal dysplasia, axial|SmD, axial|axial SmD	http://purl.obolibrary.org/obo/MONDO_0011211	https://omim.org/entry/602271|http://identifiers.org/mesh/C535795|UMLS:C1865695|Orphanet:168549	ordo_disease|gard_rare
MONDO:0013872	biolink:Disease	prostate cancer, hereditary, 2	Any familial prostate cancer in which the cause of the disease is a mutation in the ELAC2 gene.	UMLS:C3539120|OMIM:614731	mondo.json	prostate cancer, hereditary, 2, susceptibility to|ELAC2 familial prostate cancer|HPC2|prostate cancer, hereditary, 2|familial prostate cancer caused by mutation in ELAC2|prostate cancer, hereditary, type 2	http://purl.obolibrary.org/obo/MONDO_0013872	UMLS:C3539120|https://omim.org/entry/614731	
MONDO:0011214	biolink:Disease	progressive familial intrahepatic cholestasis type 3	Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.	Orphanet:79305|MESH:C535935|UMLS:C1865643|OMIM:602347|DOID:0070223|GARD:0001289	mondo.json	cholestasis, progressive familial intrahepatic, 3|cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase|progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase|PFIC3|ABCB4 progressive familial intrahepatic cholestasis|cholestasis, progressive familial intrahepatic 3|cholestasis, progressive familial intrahepatic, type 3|progressive familial intrahepatic cholestasis caused by mutation in ABCB4|Mdr3 deficiency	http://purl.obolibrary.org/obo/MONDO_0011214	DOID:0070223|Orphanet:79305|https://omim.org/entry/602347|http://identifiers.org/mesh/C535935|UMLS:C1865643	gard_rare|ordo_clinical_subtype
MONDO:0013877	biolink:Disease	mitochondrial pyruvate carrier deficiency	An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation.	DOID:0080363|OMIM:614741|Orphanet:447784|UMLS:C3553607	mondo.json	mitochondrial pyruvate carrier deficiency|MPYCD	http://purl.obolibrary.org/obo/MONDO_0013877	DOID:0080363|Orphanet:447784|UMLS:C3553607|https://omim.org/entry/614741	ordo_disease
MONDO:0013878	biolink:Disease	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the TERT gene.	Orphanet:88|EFO:1001501|OMIM:614742|UMLS:C3553617	mondo.json	pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 1|pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1|pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 1|TERT pulmonary fibrosis and/or bone marrow failure, Telomere-related|pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in TERT|PFBMFT1	http://purl.obolibrary.org/obo/MONDO_0013878	UMLS:C3553617|https://omim.org/entry/614742	
MONDO:0011213	biolink:Disease	Pierpont syndrome	Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.	Orphanet:487825|MESH:C566559|OMIM:602342|UMLS:C1865644	mondo.json	PRPTS|PIERPONT syndrome|plantar lipomatosis, unusual facies, and developmental delay|plantar lipomatosis-facial dysmorphism-developmental delay syndrome|plantar lipomatosis-unusual facies-developmental delay syndrome|Pierpont syndrome	http://purl.obolibrary.org/obo/MONDO_0011213	http://identifiers.org/mesh/C566559|https://omim.org/entry/602342|UMLS:C1865644|Orphanet:487825	ordo_malformation_syndrome
MONDO:0011216	biolink:Disease	hemochromatosis type 2A	Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene.	OMIM:602390|DOID:0111027	mondo.json	HJV hemochromatosis type 2|hemochromatosis type 2A|hemochromatosis, juvenile|hemochromatosis, type 2A|hemochromatosis, type 2|HFE2A|hemochromatosis type 2 caused by mutation in HJV	http://purl.obolibrary.org/obo/MONDO_0011216	DOID:0111027|https://omim.org/entry/602390	
MONDO:0013875	biolink:Disease	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene.	Orphanet:352328|GARD:0012963|OMIM:614739|SCTID:711409002|DOID:0110001|UMLS:C3553597	mondo.json	SERAC1 3-methylglutaconic aciduria|3-MGCA type IV (formerly)|MGCA6|MEGDEL|3-MGCA-4 (formerly)|3-Methylglutaconic aciduria, type 6|3-Methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and Leigh-like syndrome|3-methylglutaconic aciduria caused by mutation in SERAC1|3-methylglutaconic aciduria type 6|MEGDEL syndrome|3-methylglutaconic aciduria type VI|3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome|SERAC1 defect|3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome	http://purl.obolibrary.org/obo/MONDO_0013875	DOID:0110001|UMLS:C3553597|https://omim.org/entry/614739|http://identifiers.org/snomedct/711409002|Orphanet:352328	gard_rare|ordo_disease
MONDO:0011215	biolink:Disease	osteocraniostenosis	Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.	SCTID:722109008|UMLS:C1865639|Orphanet:2763|MESH:C537291|ICD10CM:Q78.0|GARD:0003396|OMIM:602361	mondo.json	skeletal dysplasia, lethal, with gracile bones|gracile bone dysplasia|Osteocraniosplenic syndrome|Habrodysplasia|skeletal dysplasia lethal with gracile bones|GCLEB|osteocraniostenosis	http://purl.obolibrary.org/obo/MONDO_0011215	http://identifiers.org/snomedct/722109008|http://identifiers.org/mesh/C537291|Orphanet:2763|https://omim.org/entry/602361|UMLS:C1865639	ordo_malformation_syndrome
MONDO:0037847	biolink:Disease	vertebral joint disorder	A disease that involves the intervertebral joint.	SCTID:372109003	mondo.json	intervertebral joint disease or disorder|disorder of intervertebral joint|disease or disorder of intervertebral joint|disease of intervertebral joint|disorder of joint of spine|intervertebral joint disease|spondyloarthropathy	http://purl.obolibrary.org/obo/MONDO_0037847	http://identifiers.org/snomedct/372109003	
MONDO:0013876	biolink:Disease	basal cell carcinoma, susceptibility to, 7	Any skin basal cell carcinoma in which the cause of the disease is a mutation in the TP53 gene.	OMIM:614740	mondo.json	susceptibility to basal cell carcinoma 7|basal cell carcinoma 7|basal cell carcinoma, susceptibility to, 7|basal cell carcinoma, susceptibility to, type 7|skin basal cell carcinoma caused by mutation in TP53|TP53 skin basal cell carcinoma|BCC7	http://purl.obolibrary.org/obo/MONDO_0013876	https://omim.org/entry/614740	predisposition
MONDO:0001879	biolink:Disease	anus cancer	A malignant neoplasm involving the anus	NCIT:C7379|GARD:0009300|UMLS:C0153445|ICD9:154.3|DOID:14110|SCTID:363352004|ICD9:154.2	mondo.json	malignant neoplasm of anus|anus cancer|malignant anal neoplasm|malignant neoplasm of the anus|malignant anal tumor|malignant anus neoplasm|malignant tumor of anus|cancer of anus|malignant tumor of the anus	http://purl.obolibrary.org/obo/MONDO_0001879	DOID:14110|NCIT:C7379	
HGNC:5382	biolink:NamedThing	IDH1			mondo.json		http://identifiers.org/hgnc/5382		
MONDO:0001878	biolink:Disease	acquired hypertrophic pyloric stenosis	An instance of hypertrophic pyloric stenosis that is acquired during the lifetime of the individual.	ICD9:537.0|UMLS:C2937286|DOID:14099|SCTID:266438007	mondo.json	adult hypertrophic pyloric stenosis|acquired gastric outlet stenosis|acquired hypertrophic pyloric stenosis	http://purl.obolibrary.org/obo/MONDO_0001878	UMLS:C2937286|DOID:14099|http://identifiers.org/snomedct/266438007	
HGNC:5383	biolink:NamedThing	IDH2			mondo.json		http://identifiers.org/hgnc/5383		
HGNC:19048	biolink:NamedThing	ASPM			mondo.json		http://identifiers.org/hgnc/19048		
MONDO:0013870	biolink:Disease	TMEM165-congenital disorder of glycosylation	TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).	Orphanet:314667|UMLS:C3553571|GARD:0012413|DOID:0070263|SCTID:732252005|OMIM:614727	mondo.json	CDG IIk|carbohydrate deficient glycoprotein syndrome type IIk|CDG-IIk|congenital disorder of glycosylation, type IIk|TMEM165-CDG (CDG-IIk)|congenital disorder of glycosylation type IIk|TMEM165-congenital disorder of glycosylation|CDG syndrome type IIk|CDG2K|congenital disorder of glycosylation type 2k|TMEM165-CDG	http://purl.obolibrary.org/obo/MONDO_0013870	Orphanet:314667|UMLS:C3553571|https://omim.org/entry/614727|DOID:0070263|http://identifiers.org/snomedct/732252005	ordo_disease
HGNC:5385	biolink:NamedThing	IDH3B			mondo.json		http://identifiers.org/hgnc/5385		
MONDO:0001895	biolink:Disease	acute retrobulbar neuritis	Acute form of retrobulbar neuritis.	DOID:14155|UMLS:C0155301|SCTID:51604006|ICD9:377.32	mondo.json	retrobulbar neuritis (acute)|retrobulbar neuritis, acute	http://purl.obolibrary.org/obo/MONDO_0001895	DOID:14155|UMLS:C0155301|http://identifiers.org/snomedct/51604006	
MONDO:0001894	biolink:Disease	spinal cord sarcoma	A sarcoma that arises from the spinal cord.	DOID:14152|NCIT:C5152|UMLS:C1336049	mondo.json	spinal cord sarcoma|sarcoma of spinal cord|sarcoma of the spinal cord	http://purl.obolibrary.org/obo/MONDO_0001894	DOID:14152|NCIT:C5152|UMLS:C1336049	
MONDO:0001893	biolink:Disease	spinal cord melanoma	A melanoma (disease) that involves the spinal cord.	DOID:14151|NCIT:C5158|UMLS:C1336045	mondo.json	melanoma (disease) of spinal cord|melanoma of spinal cord|melanoma of the spinal cord|spinal cord melanoma|spinal cord melanoma (disease)	http://purl.obolibrary.org/obo/MONDO_0001893	DOID:14151|NCIT:C5158|UMLS:C1336045	
MONDO:0001892	biolink:Disease	spinal cord lymphoma	A non-Hodgkin or Hodgkin lymphoma that arises in the spinal cord as a primary lesion.	DOID:14150|NCIT:C5157|UMLS:C1336044	mondo.json	spinal cord lymphoma|lymphoma of spinal cord|lymphoma of the spinal cord|spinal cord cancer|primary spinal cord lymphoma	http://purl.obolibrary.org/obo/MONDO_0001892	DOID:14150|UMLS:C1336044|NCIT:C5157	
MONDO:0001899	biolink:Disease	rheumatic congestive heart failure		UMLS:C0155582|ICD9:398.91|SCTID:82523003|DOID:14172|ICD10CM:I09.81	mondo.json	rheumatic heart failure (congestive)|rheumatic heart failure|congestive rheumatic heart failure	http://purl.obolibrary.org/obo/MONDO_0001899	DOID:14172|UMLS:C0155582|http://identifiers.org/snomedct/82523003|http://purl.bioontology.org/ontology/ICD10CM/I09.81	
MONDO:0001898	biolink:Disease	optic choroid disorder	A disease involving the optic choroid.	ICD9:363.8|NCIT:C34468|MESH:D015862|ICD9:363.9|UMLS:C0008521|DOID:1417|SCTID:128468007	mondo.json	disorder of optic choroid|choroid disorder|optic choroid disease|choroid disease|disease or disorder of optic choroid|disease of optic choroid|optic choroid disease or disorder	http://purl.obolibrary.org/obo/MONDO_0001898	http://identifiers.org/snomedct/128468007|http://identifiers.org/mesh/D015862|NCIT:C34468|UMLS:C0008521|DOID:1417	
MONDO:0001897	biolink:Disease	bilateral hyperactive labyrinth		UMLS:C0155516|DOID:14165|ICD9:386.52|SCTID:194373002	mondo.json	hyperactive labyrinth, bilateral|hyperactive bilateral labyrinthine dysfunction	http://purl.obolibrary.org/obo/MONDO_0001897	http://identifiers.org/snomedct/194373002|DOID:14165|UMLS:C0155516	
MONDO:0001896	biolink:Disease	obstructive hydrocephalus	An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space.	ICD10CM:G91.1|NCIT:C116347|UMLS:C0549423|SCTID:230746009|DOID:14159|ICD9:331.4	mondo.json	non-communicating hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0001896	http://identifiers.org/snomedct/230746009|NCIT:C116347|DOID:14159|UMLS:C0549423|http://purl.bioontology.org/ontology/ICD10CM/G91.1	
MONDO:0013859	biolink:Disease	cataract 38	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the AGK gene.	DOID:0110245|OMIM:614691|UMLS:C3553494	mondo.json	AGK early-onset non-syndromic cataract|cataract 38|cataract, autosomal recessive congenital 5|cataract 38, autosomal recessive|early-onset non-syndromic cataract caused by mutation in AGK|CATC5|CTRCT38|autosomal recessive congenital cataract 5|cataract type 38	http://purl.obolibrary.org/obo/MONDO_0013859	UMLS:C3553494|https://omim.org/entry/614691|DOID:0110245	
MONDO:0013857	biolink:Disease	alar cleft, isolated		UMLS:C3553476|OMIM:614687	mondo.json	alar cleft, isolated	http://purl.obolibrary.org/obo/MONDO_0013857	https://omim.org/entry/614687|UMLS:C3553476	
MONDO:0013858	biolink:Disease	pontine tegmental cap dysplasia	Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia,language and speech disorders, feeding and swallowingdifficulties, heartmalformations and facial paralysis.The severity of themedical problems varies among patients. Some patients have a good long-term prognosiswith normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation.	UMLS:C3541340|OMIM:614688|GARD:0010919|Orphanet:269229	mondo.json	PONTINE tegmental CAP dysplasia|pontine tegmental cap dysplasia|PTCD	http://purl.obolibrary.org/obo/MONDO_0013858	https://omim.org/entry/614688|Orphanet:269229|UMLS:C3541340	gard_rare|ordo_morphological_anomaly
HP:0000405	biolink:PhenotypicFeature	Conductive hearing impairment	An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.	MSH:D006314|UMLS:C0018777|SNOMEDCT_US:44057004	mondo.json	Conductive deafness|Conduction deafness|Hearing loss, conductive|Conductive hearing loss	http://purl.obolibrary.org/obo/HP_0000405		hposlim_core
UBERON:0010498	biolink:AnatomicalEntity	pseudostratified columnar epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010498		
MONDO:0001891	biolink:Disease	obsolete malignant anus melanoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001891		
HP:0000407	biolink:PhenotypicFeature	Sensorineural hearing impairment	A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.	SNOMEDCT_US:60700002|UMLS:C0018784|MSH:D006319	mondo.json	Sensorineural hearing loss|Sensorineural deafness|Hearing loss, sensorineural	http://purl.obolibrary.org/obo/HP_0000407		hposlim_core
MONDO:0001890	biolink:Disease	pulp erosion	A tooth erosion, non-bacterial that involves the dental pulp.	ICD9:521.33|DOID:14140	mondo.json	dental pulp tooth erosion, non-bacterial|tooth erosion, non-bacterial of dental pulp	http://purl.obolibrary.org/obo/MONDO_0001890	DOID:14140	
UBERON:0010499	biolink:AnatomicalEntity	pseudostratified ciliated columnar epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010499		
HGNC:20041	biolink:NamedThing	ZNF408			mondo.json		http://identifiers.org/hgnc/20041		
MONDO:0013862	biolink:Disease	immunodeficiency, common variable, 7		UMLS:C3542922|OMIM:614699	mondo.json	immunodeficiency, common variable, 7|CVID7|immunodeficiency, common variable, type 7	http://purl.obolibrary.org/obo/MONDO_0013862	UMLS:C3542922|https://omim.org/entry/614699	
MONDO:0013863	biolink:Disease	combined immunodeficiency due to LRBA deficiency		OMIM:614700|UMLS:C3553512|Orphanet:445018	mondo.json	immunodeficiency, common variable, 8, with autoimmunity|CVID8|Cid due to LRBA deficiency|combined immunodeficiency due to LRBA deficiency	http://purl.obolibrary.org/obo/MONDO_0013863	Orphanet:445018|UMLS:C3553512|https://omim.org/entry/614700	ordo_disease
MONDO:0011201	biolink:Disease	tremor, hereditary essential, 2		DOID:0111429|MESH:C536546|OMIM:602134|GARD:0009500	mondo.json	tremor, hereditary essential, 2|essential tremor, hereditary, 2|tremor hereditary essential, 2|ETM2	http://purl.obolibrary.org/obo/MONDO_0011201	DOID:0111429|http://identifiers.org/mesh/C536546|https://omim.org/entry/602134	
MONDO:0013860	biolink:Disease	idiopathic membranous glomerulonephritis	Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function.	SCTID:722119002|GARD:0009180|UMLS:C0086445|NCIT:C123060|Orphanet:97560|OMIM:614692	mondo.json	membranous nephropathy, susceptibility to|Idiopathic membranous glomerulopathy|membranous nephropathy - Idiopathic|Extramembranous glomerulonephritis|idiopathic membranous nephropathy|MGN|glomerulonephritis, membranous|membranous GN|MBNP	http://purl.obolibrary.org/obo/MONDO_0013860	UMLS:C0086445|http://identifiers.org/snomedct/722119002|Orphanet:97560|https://omim.org/entry/614692|NCIT:C123060	ordo_disease
MONDO:0011200	biolink:Disease	torsion dystonia 7	A focal dystonia characterized by predomiantly cervical dystonia that has material basis in variation in the chromosome region 18p.	Orphanet:93963|OMIM:602124|MESH:C566572|DOID:0090040	mondo.json	cervical dystonia, primary|torsion dystonia type 7|DYT7|dystonia-7, torsion|torsion dystonia, focal adult-onset|dystonia 7, torsion	http://purl.obolibrary.org/obo/MONDO_0011200	http://identifiers.org/mesh/C566572|DOID:0090040|https://omim.org/entry/602124	
MONDO:0013861	biolink:Disease	obsolete amyotrophic lateral sclerosis type 17			mondo.json		http://purl.obolibrary.org/obo/MONDO_0013861		
MONDO:0011203	biolink:Disease	Pierre Robin sequence with pectus excavatum and rib and scapular anomalies		OMIM:602196|GARD:0010090|MESH:C535775|UMLS:C1865783	mondo.json	Pierre Robin sequence with pectus excavatum and rib and scapular anomalies|skeletal dysplasia related to campomelic dysplasia|campomelic dysplasia, mild	http://purl.obolibrary.org/obo/MONDO_0011203	UMLS:C1865783|https://omim.org/entry/602196|http://identifiers.org/mesh/C535775	gard_rare
MONDO:0013866	biolink:Disease	neuronal ceroid lipofuscinosis 11	Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene.	OMIM:614706|UMLS:C3539123|Orphanet:314629|DOID:0110732	mondo.json	ceroid lipofuscinosis, neuronal, type 11|ceroid lipofuscinosis, neuronal, 11|CLN11 disease|CLN11|GRN neuronal ceroid lipofuscinosis|Grn neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis caused by mutation in GRN|neuronal ceroid lipofuscinosis caused by mutation in Grn|neuronal ceroid lipofuscinosis type 11	http://purl.obolibrary.org/obo/MONDO_0013866	UMLS:C3539123|Orphanet:314629|DOID:0110732|https://omim.org/entry/614706	ordo_etiological_subtype
MONDO:0013867	biolink:Disease	brown-Vialetto-van Laere syndrome 2	Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene.	OMIM:614707|HGNC:30224|GARD:0012861|Orphanet:572550|UMLS:C3553538	mondo.json	BVVLS2|SLC52A2 Brown-Vialetto-van Laere syndrome|Brown-Vialetto-Van Laere syndrome type 2|BROWN-Vialetto-VAN Laere syndrome 2|brown-Vialetto-van Laere syndrome 2|Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A2	http://purl.obolibrary.org/obo/MONDO_0013867	Orphanet:572550|UMLS:C3553538|https://omim.org/entry/614707	gard_rare
MONDO:0011202	biolink:Disease	RHYNS syndrome	RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.	SCTID:723999009|GARD:0009681|MESH:C537612|Orphanet:140976|UMLS:C1865794|OMIM:602152	mondo.json	retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia|retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome|RHYNS syndrome|retinitis pigmentosa syndrome	http://purl.obolibrary.org/obo/MONDO_0011202	http://identifiers.org/snomedct/723999009|Orphanet:140976|http://identifiers.org/mesh/C537612|https://omim.org/entry/602152|UMLS:C1865794	ordo_disease
MONDO:0013864	biolink:Disease	Cornelia de Lange syndrome 4	Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene.	UMLS:C3553517|OMIM:614701|DOID:0080508	mondo.json	CDLS4|Cornelia de Lange syndrome caused by mutation in RAD21|Cornelia De Lange syndrome type 4|Cornelia DE Lange syndrome 4|Cornelia de Lange syndrome 4|RAD21 Cornelia de Lange syndrome	http://purl.obolibrary.org/obo/MONDO_0013864	DOID:0080508|UMLS:C3553517|https://omim.org/entry/614701	
MONDO:0011205	biolink:Disease	medium chain 3-ketoacyl-Coa thiolase deficiency		UMLS:C1865781|GARD:0010329|MESH:C566566|OMIM:602199	mondo.json	medium chain 3-ketoacyl-Coa thiolase deficiency|Mckat deficiency|medium-chain 3-ketoacyl-coa thiolase deficiency	http://purl.obolibrary.org/obo/MONDO_0011205	UMLS:C1865781|http://identifiers.org/mesh/C566566|https://omim.org/entry/602199	gard_rare
MONDO:0013865	biolink:Disease	mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.	UMLS:C3553529|OMIM:614702|DOID:0111480|Orphanet:314637	mondo.json	combined oxidative phosphorylation deficiency 10|cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency|combined oxidative phosphorylation defect type 10|MTO1 combined oxidative phosphorylation deficiency|COXPD10|combined oxidative phosphorylation deficiency type 10|combined oxidative phosphorylation deficiency caused by mutation in MTO1	http://purl.obolibrary.org/obo/MONDO_0013865	DOID:0111480|Orphanet:314637|UMLS:C3553529|https://omim.org/entry/614702	ordo_disease
MONDO:0037858	biolink:Disease	inherited fatty acid metabolism disorder	A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources.	SCTID:39929009|NCIT:C117115	mondo.json	disorder of fatty acid metabolism|fatty acid metabolism disorder|disorders of fatty-acid metabolism|disorder of fat oxidation|inherited fatty acid metabolism disorder	http://purl.obolibrary.org/obo/MONDO_0037858	NCIT:C117115|http://identifiers.org/snomedct/39929009	
MONDO:0011204	biolink:Disease	obsolete cerebellar degeneration-related autoantigen 3		OMIM:602197	mondo.json	cerebellar Degeneration-related autoantigen type 3|cerebellar degeneration-related autoantigen 3|Cdr3	http://purl.obolibrary.org/obo/MONDO_0011204	https://omim.org/entry/602197	
HGNC:5391	biolink:NamedThing	IDUA			mondo.json		http://identifiers.org/hgnc/5391		
MONDO:0001889	biolink:Disease	ovarian dysfunction	The inability of the ovaries to function.	ICD9:256.8|ICD9:256.9|ICD9:256.3|ICD9:256.39|DOID:1414|NCIT:C113351|ICD10CM:E28|SCTID:37102008|EFO:0009003	mondo.json	ovarian hypofunction|ovarian failure|ovarian insufficiency	http://purl.obolibrary.org/obo/MONDO_0001889	http://purl.bioontology.org/ontology/ICD10CM/E28|NCIT:C113351|DOID:1414|http://identifiers.org/snomedct/37102008	
HGNC:5394	biolink:NamedThing	CFI			mondo.json		http://identifiers.org/hgnc/5394		
MONDO:0001862	biolink:Disease	malignant visceral pleura tumor		DOID:14033|SCTID:94140004|UMLS:C0153496	mondo.json	primary malignant neoplasm of visceral pleura	http://purl.obolibrary.org/obo/MONDO_0001862	UMLS:C0153496|DOID:14033|http://identifiers.org/snomedct/94140004	
MONDO:0001861	biolink:Disease	malignant parietal pleura tumor		DOID:14032|SCTID:93948004|UMLS:C0153495	mondo.json	primary malignant neoplasm of parietal pleura	http://purl.obolibrary.org/obo/MONDO_0001861	UMLS:C0153495|DOID:14032|http://identifiers.org/snomedct/93948004	
MONDO:0001860	biolink:Disease	folic acid deficiency anemia		DOID:14026|ICD9:281.2|UMLS:C0151482|SCTID:85649008	mondo.json	folate-deficiency anemia|folate-deficient megaloblastic anaemia|folate deficiency anemia	http://purl.obolibrary.org/obo/MONDO_0001860	UMLS:C0151482|DOID:14026|http://identifiers.org/snomedct/85649008	
MONDO:0001866	biolink:Disease	bipolar I disorder	A bipolar disorder that is characterized by at least one manic or mixed episode.	SCTID:371596008|DOID:14042|ICD9:296.7|ICD9:296.50	mondo.json	bipolar 1 disorder|bipolar I disorder	http://purl.obolibrary.org/obo/MONDO_0001866	DOID:14042|http://identifiers.org/snomedct/371596008	
MONDO:0001865	biolink:Disease	obsolete autoimmune polyendocrinopathy syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001865		
IAO:8000020	biolink:NamedThing	EL++ ontology module			mondo.json		http://purl.obolibrary.org/obo/IAO_8000020		
MONDO:0001864	biolink:Disease	residual stage angle-closure glaucoma		ICD9:365.24|DOID:1404|SCTID:55129006|UMLS:C0154948	mondo.json	residual stage of angle-closure glaucoma	http://purl.obolibrary.org/obo/MONDO_0001864	UMLS:C0154948|http://identifiers.org/snomedct/55129006|DOID:1404	
MONDO:0001863	biolink:Disease	aorta atresia	An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta.	DOID:14037|SCTID:204431007|ICD9:747.22|ICD10CM:Q25.2	mondo.json	congenital atresia and stenosis of aorta|atresia and stenosis of aorta	http://purl.obolibrary.org/obo/MONDO_0001863	DOID:14037|http://purl.bioontology.org/ontology/ICD10CM/Q25.2|http://identifiers.org/snomedct/204431007	
BFO:0000117	biolink:NamedThing	has occurrent part			mondo.json		http://purl.obolibrary.org/obo/BFO_0000117		
MONDO:0013848	biolink:Disease	dilated cardiomyopathy 2B	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene.	UMLS:C3553409|DOID:0110441|OMIM:614672	mondo.json	cardiomyopathy, dilated, type 2B|GATAD1 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 2B|familial isolated dilated cardiomyopathy caused by mutation in GATAD1|CMD2B|dilated cardiomyopathy 2B|dilated cardiomyopathy type 2B	http://purl.obolibrary.org/obo/MONDO_0013848	UMLS:C3553409|https://omim.org/entry/614672|DOID:0110441	
MONDO:0013849	biolink:Disease	microcephaly 8, primary, autosomal recessive	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene.	OMIM:614673|DOID:0070282|UMLS:C3553414	mondo.json	MCPH8|CEP135 autosomal recessive primary microcephaly|microcephaly 8, primary, autosomal recessive|autosomal recessive primary microcephaly caused by mutation in CEP135	http://purl.obolibrary.org/obo/MONDO_0013849	UMLS:C3553414|https://omim.org/entry/614673|DOID:0070282	
MONDO:0013846	biolink:Disease	peripartum cardiomyopathy, susceptibility to		OMIM:614670	mondo.json	Ppcm, susceptibility to|peripartum cardiomyopathy, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0013846	https://omim.org/entry/614670	predisposition
MONDO:0013847	biolink:Disease	chromosome 16p11.2 duplication syndrome	Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.	OMIM:614671|SCTID:765142003|Orphanet:370079|GARD:0012388|UMLS:C3553407|DOID:0060430	mondo.json	16p11.2 duplication|AUTS14B|16p11.2 microduplication|proximal trisomy 16p11.2|susceptibility to autism, 14B|autism, susceptibility to, 14B|chromosome 16p11.2 duplication syndrome|proximal 16p11.2 microduplication syndrome|proximal dup(16)(p11.2)|16p11.2 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0013847	DOID:0060430|UMLS:C3553407|https://omim.org/entry/614671|Orphanet:370079|http://identifiers.org/snomedct/765142003	ordo_malformation_syndrome|predisposition
NCBITaxon:27872	biolink:OrganismalEntity	Xiphidiata		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_27872		
NCBITaxon:27871	biolink:OrganismalEntity	Plagiorchiida		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_27871		
MONDO:0013851	biolink:Disease	autosomal dominant aplasia and myelodysplasia		Orphanet:314399|UMLS:C3808553|UMLS:CN203751|OMIM:614675	mondo.json	bone marrow failure syndrome 1|autosomal dominant aplastic anemia and myelodysplasia|bone marrow failure syndrome type 1|BMFS1	http://purl.obolibrary.org/obo/MONDO_0013851	UMLS:CN203751|Orphanet:314399|UMLS:C3808553|https://omim.org/entry/614675	ordo_disease
IAO:8000019	biolink:NamedThing	ontology module subsetted by OWL profile			mondo.json		http://purl.obolibrary.org/obo/IAO_8000019		
MONDO:0013852	biolink:Disease	hypertrophic cardiomyopathy 21	A hypertrophic cardiomyopathy associated that has material basis in region 7p12.1-q21 variation.	UMLS:C3553442|OMIM:614676|DOID:0110311	mondo.json	cardiomyopathy, familial hypertrophic, 21|hypertrophic cardiomyopathy type 21|cardiomyopathy familial hypertrophic 21|cardiomyopathy, hypertrophic, 21|CMH21	http://purl.obolibrary.org/obo/MONDO_0013852	DOID:0110311|UMLS:C3553442|https://omim.org/entry/614676	
MONDO:0013850	biolink:Disease	obsolete periodic fever, menstrual cycle-dependent			mondo.json		http://purl.obolibrary.org/obo/MONDO_0013850		
MONDO:0013855	biolink:Disease	influenza, severe, susceptibility to		OMIM:614680	mondo.json	influenza, severe, susceptibility to|susceptibility to severe influenza	http://purl.obolibrary.org/obo/MONDO_0013855	https://omim.org/entry/614680	predisposition
MONDO:0013856	biolink:Disease	hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes		UMLS:C3553465|OMIM:614684	mondo.json	hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes|hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes	http://purl.obolibrary.org/obo/MONDO_0013856	https://omim.org/entry/614684|UMLS:C3553465	
MONDO:0013853	biolink:Disease	pontocerebellar hypoplasia type 1B	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene.	OMIM:614678|UMLS:C3553449|DOID:0060266	mondo.json	pontocerebellar hypoplasia, type 1B|PCH1B|pontocerebellar hypoplasia type 1B|non-syndromic pontocerebellar hypoplasia caused by mutation in EXOSC3|EXOSC3 non-syndromic pontocerebellar hypoplasia	http://purl.obolibrary.org/obo/MONDO_0013853	DOID:0060266|UMLS:C3553449|https://omim.org/entry/614678	
MONDO:0013854	biolink:Disease	primary ciliary dyskinesia 17	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene.	UMLS:C3542550|OMIM:614679|DOID:0110621	mondo.json	CCDC103 primary ciliary dyskinesia|CILD17|ciliary dyskinesia, primary, 17|primary ciliary dyskinesia 17|ciliary dyskinesia, primary, 17, with or without situs inversus|primary ciliary dyskinesia type 17|primary ciliary dyskinesia 17 with or without situs inversus|primary ciliary dyskinesia caused by mutation in CCDC103|ciliary dyskinesia, primary, type 17	http://purl.obolibrary.org/obo/MONDO_0013854	UMLS:C3542550|DOID:0110621|https://omim.org/entry/614679	
MONDO:0001859	biolink:Disease	algoneurodystrophy		ICD10CM:M89.0|DOID:14022|ICD9:733.7	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001859	http://purl.bioontology.org/ontology/ICD10CM/M89.0|DOID:14022	
IAO:8000011	biolink:NamedThing	external import ontology module	An imported ontology module that is derived from an external ontology. Derivation methods include the OWLAPI SLME approach.		mondo.json		http://purl.obolibrary.org/obo/IAO_8000011		
UBERON:0009494	biolink:AnatomicalEntity	pharyngeal arch mesenchymal region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009494		
MONDO:0001858	biolink:Disease	Tietze syndrome	Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease.	SCTID:30128009|MESH:D013991|ICD9:733.6|NCIT:C168333|UMLS:C0040213|DOID:14021|GARD:0010100	mondo.json	Tietze's disease|Tietze syndrome|Costalchondritis|costochondral joint syndromic disease|Tietze's syndrome|syndromic disease of costochondral joint|costochondral junction syndrome|Costochondritis|slipping rib syndrome|Chondropathia tuberosa	http://purl.obolibrary.org/obo/MONDO_0001858	NCIT:C168333|http://identifiers.org/snomedct/30128009|DOID:14021|http://identifiers.org/mesh/D013991|UMLS:C0040213	
IAO:8000012	biolink:NamedThing	species subset ontology module	A subset ontology that is crafted to either include or exclude a taxonomic grouping of species.		mondo.json		http://purl.obolibrary.org/obo/IAO_8000012		
MONDO:0001857	biolink:Disease	Brucella canis brucellosis	A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has symptom fever, has symptom sweats, has symptom weakness, has symptom weight loss, has symptom headache, has symptom lymphadenopathy and has symptom splenomegaly.	ICD9:023.3|SCTID:428174001|DOID:14019|UMLS:C0494040	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001857	UMLS:C0494040|DOID:14019|http://identifiers.org/snomedct/428174001	
IAO:8000013	biolink:NamedThing	reasoned ontology module	An ontology module that contains axioms generated by a reasoner. The generated axioms are typically direct SubClassOf axioms, but other possibilities are available.		mondo.json		http://purl.obolibrary.org/obo/IAO_8000013		
MONDO:0001856	biolink:Disease	splenic artery aneurysm		ICD9:442.83|UMLS:C0155747|DOID:14006|SCTID:70405009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001856	UMLS:C0155747|http://identifiers.org/snomedct/70405009|DOID:14006	
IAO:8000014	biolink:NamedThing	generated ontology module	An ontology module that is automatically generated, for example via a SPARQL query or via template and a CSV.		mondo.json		http://purl.obolibrary.org/obo/IAO_8000014		
UBERON:0009497	biolink:AnatomicalEntity	epithelium of foregut-midgut junction			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009497		
IAO:8000015	biolink:NamedThing	template generated ontology module	An ontology module that is automatically generated from a template specification and fillers for slots in that template.		mondo.json		http://purl.obolibrary.org/obo/IAO_8000015		
OBO:ECTO_0500000	biolink:NamedThing	exposure to environmental disposition	A exposure event involving the interaction of an exposure receptor to environmental disposition.		mondo.json	environmental disposition exposure	http://purl.obolibrary.org/obo/ECTO_0500000		
HGNC:19027	biolink:NamedThing	LRRC8A			mondo.json		http://identifiers.org/hgnc/19027		
IAO:8000016	biolink:NamedThing	taxonomic bridge ontology module			mondo.json		http://purl.obolibrary.org/obo/IAO_8000016		
IAO:8000017	biolink:NamedThing	ontology module subsetted by expressivity			mondo.json		http://purl.obolibrary.org/obo/IAO_8000017		
MONDO:0037860	biolink:Disease	obsolete rare systemic or rheumatologic disease		Orphanet:98023	mondo.json		http://purl.obolibrary.org/obo/MONDO_0037860	Orphanet:98023	
IAO:8000018	biolink:NamedThing	obo basic subset ontology module	A subset ontology that is designed for basic applications to continue to make certain simplifying assumptions; many of these simplifying assumptions were based on the initial version of the Gene Ontology, and have become enshrined in many popular and useful tools such as term enrichment tools.  Examples of such assumptions include: traversing the ontology graph ignoring relationship types using a naive algorithm will not lead to cycles (i.e. the ontology is a DAG); every referenced term is declared in the ontology (i.e. there are no dangling clauses).  An ontology is OBO Basic if and only if it has the following characteristics: DAG Unidirectional No Dangling Clauses Fully Asserted Fully Labeled No equivalence axioms Singly labeled edges No qualifier lists No disjointness axioms No owl-axioms header No imports		mondo.json		http://purl.obolibrary.org/obo/IAO_8000018		
MONDO:0001873	biolink:Disease	geniculate ganglionitis	Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation.	SCTID:72839009|DOID:14075|ICD10CM:G51.1|UMLS:C0017407|ICD9:351.1	mondo.json	inflammation of geniculate ganglion|geniculate ganglionitis|geniculate ganglion inflammation	http://purl.obolibrary.org/obo/MONDO_0001873	http://purl.bioontology.org/ontology/ICD10CM/G51.1|DOID:14075|http://identifiers.org/snomedct/72839009|UMLS:C0017407	
MONDO:0001872	biolink:Disease	obsolete vestibular nystagmus		SCTID:46888001|UMLS:C0155379|DOID:14070|ICD9:379.54	mondo.json	vestibular nystagmus|Nystagmus associated with disorder of the vestibular system|obsolete vestibular nystagmus (disease)	http://purl.obolibrary.org/obo/MONDO_0001872	DOID:14070|http://identifiers.org/snomedct/46888001|UMLS:C0155379	
MONDO:0001871	biolink:Disease	acute diffuse glomerulonephritis	An acute inflammation of the glomeruli, in which all glomeruli are affected, resulting in acute renal failure.	DOID:14066|UMLS:C0341689|NCIT:C35587|SCTID:197585004	mondo.json	acute diffuse glomerulonephritis|acute diffuse nephritis|diffuse glomerulonephritis, acute	http://purl.obolibrary.org/obo/MONDO_0001871	NCIT:C35587|http://identifiers.org/snomedct/197585004|DOID:14066|UMLS:C0341689	
MONDO:0001870	biolink:Disease	acute poststreptococcal glomerulonephritis	Acute post streptococcal glomerulonephritis is an immunologic response of the kidney to infection, characterized by the sudden appearance of edema, hematuria, proteinuria and hypertension. It is essentially a disease of childhood that accounts for approximately 90% of renal disorders in children. The disease occurs especially in children between the ages of 2 and 12 years and young adults, and more often in male than in female.	NCIT:C35443|DOID:14064|SCTID:68544003|UMLS:C0403414	mondo.json	post-streptococcal glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0001870	DOID:14064|http://identifiers.org/snomedct/68544003|UMLS:C0403414	
MONDO:0001877	biolink:Disease	infertility due to extratesticular cause		SCTID:84245004|UMLS:C0021360|DOID:14096|ICD9:606.8	mondo.json	infertility due to extratesticular causes	http://purl.obolibrary.org/obo/MONDO_0001877	UMLS:C0021360|http://identifiers.org/snomedct/84245004|DOID:14096	
MONDO:0001876	biolink:Disease	renal artery atheroma	A atherosclerosis that involves the renal artery.	SCTID:45281005|ICD9:440.1|DOID:14092|UMLS:C0155734|ICD10CM:I70.1	mondo.json	atherosclerosis of renal artery|renal artery atherosclerosis|renal atherosclerosis	http://purl.obolibrary.org/obo/MONDO_0001876	http://identifiers.org/snomedct/45281005|DOID:14092|http://purl.bioontology.org/ontology/ICD10CM/I70.1|UMLS:C0155734	
UBERON:0009480	biolink:AnatomicalEntity	endoderm of buccopharyngeal membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009480		
MONDO:0001875	biolink:Disease	epicondylitis	Inflammation of the lateral epicondyle.	UMLS:C0014488|MESH:D013716|DOID:14087|ICD9:726.32|NCIT:C34589|ICD10CM:M77.1|SCTID:202855006	mondo.json	golfer's elbow|andrel epicondylitis|ectepicondyle of humerus inflammation|tennis elbow|inflammation of ectepicondyle of humerus|lateral epicondylitis|shooter's elbow|hockey elbow|archer's elbow|medial epicondylitis	http://purl.obolibrary.org/obo/MONDO_0001875	UMLS:C0014488|http://identifiers.org/snomedct/202855006|DOID:14087|http://identifiers.org/mesh/D013716|NCIT:C34589|http://purl.bioontology.org/ontology/ICD10CM/M77.1	
IAO:8000010	biolink:NamedThing	exclusion subset ontology module	A subset of an ontology that is intended to be excluded for some purpose. For example, a blacklist of classes.		mondo.json		http://purl.obolibrary.org/obo/IAO_8000010		
MONDO:0001874	biolink:Disease	toxic labyrinthitis	A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic.	SCTID:3344003|SCTID:9062008|ICD9:386.34|UMLS:C0155507|EFO:0006951|DOID:14081	mondo.json	ototoxicity	http://purl.obolibrary.org/obo/MONDO_0001874	DOID:14081|http://identifiers.org/snomedct/3344003|http://identifiers.org/snomedct/9062008|UMLS:C0155507	
UBERON:0009482	biolink:AnatomicalEntity	associated mesenchyme of foregut-midgut junction			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009482		
MONDO:0013837	biolink:Disease	deafness-encephaloneuropathy-obesity-valvulopathy syndrome	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.	OMIM:614651|DOID:0070239|Orphanet:254898|UMLS:C3553354	mondo.json	hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome|COQ10D2|coenzyme Q10 deficiency, primary, type 2|coenzyme Q10 deficiency, primary, 2	http://purl.obolibrary.org/obo/MONDO_0013837	Orphanet:254898|UMLS:C3553354|https://omim.org/entry/614651|DOID:0070239	ordo_disease
MONDO:0013838	biolink:Disease	coenzyme Q10 deficiency, primary, 3	Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene.	OMIM:614652|DOID:0070240|UMLS:C3553358	mondo.json	coenzyme Q10 deficiency, primary, 3|PDSS2 coenzyme Q10 deficiency|COQ10D3|coenzyme Q10 deficiency, primary, type 3|coenzyme Q10 deficiency caused by mutation in PDSS2	http://purl.obolibrary.org/obo/MONDO_0013838	UMLS:C3553358|https://omim.org/entry/614652|DOID:0070240	
MONDO:0013835	biolink:Disease	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7	Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene.	UMLS:C3553330|DOID:0111234|Orphanet:899|OMIM:614643	mondo.json	ISPD muscular dystrophy-dystroglycanopathy, type A|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7|Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related|MDDGA7|muscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPD	http://purl.obolibrary.org/obo/MONDO_0013835	UMLS:C3553330|https://omim.org/entry/614643|DOID:0111234	
MONDO:0013836	biolink:Disease	familial steroid-resistant nephrotic syndrome with sensorineural deafness		Orphanet:280406|OMIM:614650|UMLS:C3553349|DOID:0070243	mondo.json	coenzyme Q10 deficiency, primary, type 6|coenzyme Q10 deficiency, primary, 6|COQ10D6	http://purl.obolibrary.org/obo/MONDO_0013836	UMLS:C3553349|Orphanet:280406|https://omim.org/entry/614650|DOID:0070243	ordo_disease
MONDO:0013839	biolink:Disease	hereditary sensory and autonomic neuropathy type 6	Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene.	OMIM:614653|DOID:0070151|UMLS:C3539003|Orphanet:314381	mondo.json	hereditary sensory and autonomic neuropathy type VI|familial dysautonomia with contractures|HSAN 6|neuropathy, hereditary sensory and autonomic, type VI|DST hereditary sensory and autonomic neuropathy|HSAN6|neuropathy, hereditary sensory and autonomic, type 6|hereditary sensory and autonomic neuropathy caused by mutation in DST	http://purl.obolibrary.org/obo/MONDO_0013839	Orphanet:314381|https://omim.org/entry/614653|DOID:0070151|UMLS:C3539003	ordo_disease
MONDO:0013840	biolink:Disease	encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.	Orphanet:319678|OMIM:614654|DOID:0070242|UMLS:C3553374	mondo.json	coenzyme Q10 deficiency, primary, type 5|coenzyme Q10 deficiency, primary, 5|COQ10D5	http://purl.obolibrary.org/obo/MONDO_0013840	DOID:0070242|Orphanet:319678|UMLS:C3553374|https://omim.org/entry/614654	ordo_disease
IAO:8000008	biolink:NamedThing	analysis subset ontology module	An ontology module that is intended for usage in analysis or discovery applications.		mondo.json		http://purl.obolibrary.org/obo/IAO_8000008		
MONDO:0013841	biolink:Disease	stuttering, familial persistent, 3		UMLS:C3553381|OMIM:614655	mondo.json	stuttering, familial persistent, 3|STUT3	http://purl.obolibrary.org/obo/MONDO_0013841	UMLS:C3553381|https://omim.org/entry/614655	
IAO:8000009	biolink:NamedThing	single layer subset ontology module	A subset ontology that is largely comprised of a single layer or strata in an ontology class hierarchy. The purpose is typically for rolling up for visualization. The classes in the layer need not be disjoint.		mondo.json		http://purl.obolibrary.org/obo/IAO_8000009		
MONDO:0013844	biolink:Disease	stuttering, familial persistent, 4		OMIM:614668|UMLS:C3553403	mondo.json	stuttering, familial persistent, 4|STUT4	http://purl.obolibrary.org/obo/MONDO_0013844	https://omim.org/entry/614668|UMLS:C3553403	
MONDO:0013845	biolink:Disease	auriculocondylar syndrome 2	Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene.	OMIM:614669|UMLS:C3553404	mondo.json	ARCND2|AURICULOCONDYLAR syndrome 2|Auriculocondylar syndrome 2|PLCB4 auriculocondylar syndrome|Auriculocondylar syndrome type 2|auriculocondylar syndrome caused by mutation in PLCB4	http://purl.obolibrary.org/obo/MONDO_0013845	UMLS:C3553404|https://omim.org/entry/614669	
NCBITaxon:291484	biolink:OrganismalEntity	Hepeviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_291484		
GO:0086065	biolink:NamedThing	cell communication involved in cardiac conduction	Any process that mediates interactions between a cell and its surroundings that contributes to the process of cardiac conduction. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment.		mondo.json		http://purl.obolibrary.org/obo/GO_0086065		
MONDO:0013842	biolink:Disease	cortisone reductase deficiency 2	Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency.	NCIT:C131084|OMIM:614662|UMLS:C3553382|DOID:0090140	mondo.json	11-beta-hydroxysteroid dehydrogenase type 1 deficiency|HSD11B1 cortisone reductase deficiency|CORTRD2|cortisone reductase deficiency caused by mutation in HSD11B1|cortisone reductase deficiency 2|cortisone reductase deficiency type 2	http://purl.obolibrary.org/obo/MONDO_0013842	https://omim.org/entry/614662|NCIT:C131084|DOID:0090140|UMLS:C3553382	
MONDO:0013843	biolink:Disease	intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency	Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene.	Orphanet:314376|SCTID:733447005|ICD9:777.1|OMIM:614665	mondo.json	meconium ileus|meconium ileus caused by mutation in GUCY2C|meconium ileus due to guanylate cyclase 2C deficiency|GUCY2C meconium ileus	http://purl.obolibrary.org/obo/MONDO_0013843	https://omim.org/entry/614665|http://identifiers.org/snomedct/733447005|Orphanet:314376	ordo_disease
IAO:8000000	biolink:NamedThing	ontology module			mondo.json		http://purl.obolibrary.org/obo/IAO_8000000		
UBERON:0009483	biolink:AnatomicalEntity	mesentery of foregut-midgut junction			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009483		
MONDO:0001869	biolink:Disease	paraurethral gland cancer	A malignant neoplasm involving the paraurethral gland.	ICD9:189.4|DOID:14059|UMLS:C0153621|SCTID:363460002	mondo.json	malignant tumor of the paraurethral gland|cancer of paraurethral gland|paraurethral gland cancer|malignant tumor of paraurethral gland|malignant neoplasm of paraurethral gland|malignant paraurethral gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0001869	http://identifiers.org/snomedct/363460002|UMLS:C0153621|DOID:14059	
IAO:8000001	biolink:NamedThing	base ontology module	An ontology module that comprises only of asserted axioms local to the ontology, excludes import directives, and excludes axioms or declarations from external ontologies.		mondo.json		http://purl.obolibrary.org/obo/IAO_8000001		
MONDO:0001868	biolink:Disease	primary angle-closure glaucoma	An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.	SCTID:392288006|EFO:1001506|ICD10CM:H40.2|DOID:1405|UMLS:C0017606|ICD9:365.20|ICD9:365.2|NCIT:C34640	mondo.json	primary angle closure glaucoma	http://purl.obolibrary.org/obo/MONDO_0001868	DOID:1405|UMLS:C0017606|http://purl.bioontology.org/ontology/ICD10CM/H40.2|http://identifiers.org/snomedct/392288006	
IAO:8000002	biolink:NamedThing	editors ontology module	An ontology module that is intended to be directly edited, typically managed in source control, and typically not intended for direct consumption by end-users.		mondo.json		http://purl.obolibrary.org/obo/IAO_8000002		
MONDO:0001867	biolink:Disease	phaeohyphomycosis	An opportunistic fungal infection caused by any of a variety of normally saprophytic fungi with hyaline hyphal elements. For example, Fusarium spp. infect neutropenic patients to cause pneumonia, fungemia, and disseminated infection with cutaneous lesions.	DOID:14049|ICD9:117.8|SCTID:47158003|GARD:0012803|MESH:D060446	mondo.json	infection by dematiacious fungi [Phaehyphomycosis]|infection by dematiacious fungi|phaehyphomycosis	http://purl.obolibrary.org/obo/MONDO_0001867	http://identifiers.org/snomedct/47158003|http://identifiers.org/mesh/D060446|DOID:14049	gard_rare
IAO:8000003	biolink:NamedThing	main release ontology module	An ontology module that is intended to be the primary release product and the one consumed by the majority of tools.		mondo.json		http://purl.obolibrary.org/obo/IAO_8000003		
IAO:8000004	biolink:NamedThing	bridge ontology module	An ontology module that consists entirely of axioms that connect or bridge two distinct ontology modules. For example, the Uberon-to-ZFA bridge module.		mondo.json		http://purl.obolibrary.org/obo/IAO_8000004		
IAO:8000005	biolink:NamedThing	import ontology module	A subset ontology module that is intended to be imported from another ontology.		mondo.json		http://purl.obolibrary.org/obo/IAO_8000005		
MONDO:0037870	biolink:Disease	valine metabolism disease	A disease that has its basis in the disruption of valine metabolic process.	SCTID:444756000|UMLS:C2919304	mondo.json	valine metabolic process disease|disorder of valine metabolic process|disorder of valine metabolism	http://purl.obolibrary.org/obo/MONDO_0037870	http://identifiers.org/snomedct/444756000|UMLS:C2919304	
IAO:8000006	biolink:NamedThing	subset ontology module	An ontology module that is extracted from a main ontology module and includes only a subset of entities or axioms.		mondo.json		http://purl.obolibrary.org/obo/IAO_8000006		
MONDO:0037871	biolink:Disease	amino acid metabolism disease	A disease that has its basis in the disruption of cellular amino acid metabolic process.	SCTID:44779003|NCIT:C97090	mondo.json	amino acid disorder|disorder of cellular amino acid metabolic process|amino acid metabolism disorder|cellular amino acid metabolic process disease|disorder of amino acid metabolism|amino acidopathy	http://purl.obolibrary.org/obo/MONDO_0037871	http://identifiers.org/snomedct/44779003|NCIT:C97090	
MONDO:0037872	biolink:Disease	bordetellosis	Any disease caused by infection with organisms of the genus Bordetella.	MESH:D001885|EFO:1001275|ICD9:041.85|SCTID:26484003|UMLS:C0006015	mondo.json	Bordetella Infection|Bordetellosis|Bordetella infectious disease|Bordetella caused disease or disorder|Bordetella Infections|INFECT BORDETELLA|bordetellosis|Bordetella infection|Infection, Bordetella|Bordetella disease or disorder|Infections, Bordetella	http://purl.obolibrary.org/obo/MONDO_0037872	UMLS:C0006015|http://identifiers.org/snomedct/26484003|http://identifiers.org/mesh/D001885	
IAO:8000007	biolink:NamedThing	curation subset ontology module	A subset ontology that is intended as a whitelist for curators using the ontology. Such a subset will exclude classes that curators should not use for curation.		mondo.json		http://purl.obolibrary.org/obo/IAO_8000007		
MONDO:0023232	biolink:Disease	giant cell myocarditis	An often fatal inflammatory disorder that affects the myocardium. Morphologically, it is characterized by the presence of an inflammatory infiltrate in the myocardial tissue that includes multinucleated giant cells. It is often associated with the presence of an autoimmune disorder. Patients present with arrhythmias and/or heart failure. Heart transplantation is the only treatment option available.	GARD:0006502|SCTID:60812006|UMLS:C0264856|NCIT:C97055	mondo.json	giant cell myocarditis|idiopathic giant-cell myocarditis|GCM	http://purl.obolibrary.org/obo/MONDO_0023232	UMLS:C0264856|NCIT:C97055|http://identifiers.org/snomedct/60812006	gard_rare
MONDO:0023235	biolink:Disease	obsolete giant congenital nevus			mondo.json		http://purl.obolibrary.org/obo/MONDO_0023235		
MONDO:0023238	biolink:Disease	giant mammary hamartoma		UMLS:C2931343|MESH:C536818|GARD:0000208	mondo.json	giant hamartoma of the breast	http://purl.obolibrary.org/obo/MONDO_0023238	http://identifiers.org/mesh/C536818|UMLS:C2931343	gard_rare
HGNC:10669	biolink:NamedThing	TSHZ1			mondo.json		http://identifiers.org/hgnc/10669		
MONDO:0023230	biolink:Disease	Ghose-Sachdev-Kumar syndrome		GARD:0002467|UMLS:C2974016|MESH:C537803	mondo.json	bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma	http://purl.obolibrary.org/obo/MONDO_0023230	UMLS:C2974016|http://identifiers.org/mesh/C537803	gard_rare
MONDO:0011254	biolink:Disease	brachydactyly, intraventricular septal defect, and deafness		MESH:C566521|OMIM:602561|UMLS:C1865182	mondo.json	brachydactyly, intraventricular septal defect, and deafness	http://purl.obolibrary.org/obo/MONDO_0011254	https://omim.org/entry/602561|UMLS:C1865182|http://identifiers.org/mesh/C566521	
MONDO:0011253	biolink:Disease	craniomicromelic syndrome	Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly.	SCTID:725098001|Orphanet:1524|GARD:0001583|UMLS:C1865184|OMIM:602558|MESH:C566522	mondo.json	craniomicromelic syndrome	http://purl.obolibrary.org/obo/MONDO_0011253	https://omim.org/entry/602558|UMLS:C1865184|http://identifiers.org/snomedct/725098001|Orphanet:1524|http://identifiers.org/mesh/C566522	ordo_malformation_syndrome|gard_rare
MONDO:0011256	biolink:Disease	emphysema, congenital, with deafness, penoscrotal web, and intellectual disability		UMLS:C1865180|OMIM:602564|MESH:C566519	mondo.json	emphysema, congenital, with deafness, penoscrotal web, and intellectual disability|emphysema, congenital, with deafness, penoscrotal web, and mental retardation	http://purl.obolibrary.org/obo/MONDO_0011256	http://identifiers.org/mesh/C566519|https://omim.org/entry/602564|UMLS:C1865180	
HGNC:10672	biolink:NamedThing	CXCL12			mondo.json		http://identifiers.org/hgnc/10672		
MONDO:0011255	biolink:Disease	mandibulofacial dysostosis-macroblepharon-macrostomia syndrome		MESH:C566520|OMIM:602562|Orphanet:357158|UMLS:C1865181	mondo.json	mandibulofacial dysostosis with macroblepharon and macrostomia|Verloes-Lesenfants syndrome|macroblepharon, ectropion, hypertelorism, and macrostomia|macroblepharon-ectropion-hypertelorism-macrostomia syndrome	http://purl.obolibrary.org/obo/MONDO_0011255	https://omim.org/entry/602562|UMLS:C1865181|http://identifiers.org/mesh/C566520|Orphanet:357158	ordo_disease
MONDO:0011258	biolink:Disease	branchiootic syndrome 1	Any branchiootic syndrome in which the cause of the disease is a mutation in the EYA1 gene.	OMIM:602588|UMLS:C1865143	mondo.json	branchiootic syndrome type 1|bo syndrome 1|EYA1 branchiootic syndrome|branchiootic dysplasia|anterior segment anomalies with or without cataract|branchiootic syndrome caused by mutation in EYA1|branchiootic syndrome 1|BOS1	http://purl.obolibrary.org/obo/MONDO_0011258	https://omim.org/entry/602588|UMLS:C1865143	
MONDO:0011257	biolink:Disease	MPI-congenital disorder of glycosylation	MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).	MESH:C535740|GARD:0009830|Orphanet:79319|ICD9:277.6|SCTID:124668009|DOID:0080554|OMIM:602579	mondo.json	SLSJ syndrome|Mannosephosphate isomerase deficiency|CDG gastrointestinal type|MPI-CDG|congenital disorder of glycosylation type 1b|carbohydrate deficient glycoprotein syndrome type IB|CDG-Ib|carbohydrate-deficient glycoprotein syndrome type 1B|CDG 1B|CDG Ib|Mpi deficiency|Slsj syndrome|CDG, gastrointestinal type|CDG syndrome type IB|congenital disorder of glycosylation type IB|phosphomannose isomerase deficiency|Saguenay Lac Saint Jean syndrome|CDG1B|Protein-losing enteropathy-hepatic fibrosis syndrome|Saguenay-Lac Saint-Jean syndrome|congenital disorder of glycosylation, type IB|MPI-CDG (CDG-Ib)	http://purl.obolibrary.org/obo/MONDO_0011257	DOID:0080554|http://identifiers.org/snomedct/124668009|Orphanet:79319|http://identifiers.org/mesh/C535740|https://omim.org/entry/602579	ordo_disease
MONDO:0011259	biolink:Disease	retinitis pigmentosa 22	A retinitis pigmentosa that has material basis in variation in the chromosome region 16p12.3-p12.1.	UMLS:C3887981|DOID:0110400|GARD:0010393|OMIM:602594|ICD10CM:H35.5	mondo.json	RP 22|retinitis pigmentosa type 22|RP22|retinitis pigmentosa 22	http://purl.obolibrary.org/obo/MONDO_0011259	UMLS:C3887981|DOID:0110400|https://omim.org/entry/602594	gard_rare
MONDO:0011250	biolink:Disease	microcephaly, macrotia, and intellectual disability		UMLS:C1865204|MESH:C566525|OMIM:602555	mondo.json	microcephaly, macrotia, and intellectual disability|microcephaly, macrotia, and mental retardation	http://purl.obolibrary.org/obo/MONDO_0011250	https://omim.org/entry/602555|UMLS:C1865204|http://identifiers.org/mesh/C566525	
HGNC:10671	biolink:NamedThing	SDCCAG8			mondo.json		http://identifiers.org/hgnc/10671		
MONDO:0011252	biolink:Disease	spondyloepimetaphyseal dysplasia, Shohat type	A spondyloepimetaphyseal dysplasia characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.	UMLS:C1865185|GARD:0004980|Orphanet:93352|MESH:C566523|OMIM:602557|SCTID:719201004	mondo.json	spondyloepimetaphyseal dysplasia, Shohat type|SEMD, Shohat type|SEMDSH|spondyloepimetaphyseal dysplasia Shohat type|SEMD Shohat type	http://purl.obolibrary.org/obo/MONDO_0011252	http://identifiers.org/snomedct/719201004|UMLS:C1865185|https://omim.org/entry/602557|Orphanet:93352|http://identifiers.org/mesh/C566523	ordo_disease|gard_rare
MONDO:0011251	biolink:Disease	facial dysmorphism, cleft palate, hearing loss, and camptodactyly		UMLS:C1865203|MESH:C566524|OMIM:602556	mondo.json	facial dysmorphism, cleft palate, hearing loss, and camptodactyly	http://purl.obolibrary.org/obo/MONDO_0011251	https://omim.org/entry/602556|UMLS:C1865203|http://identifiers.org/mesh/C566524	
MONDO:0023221	biolink:Disease	Gaucher ichthyosis restrictive dermopathy		GARD:0002444	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023221		gard_rare
HGNC:19012	biolink:NamedThing	CORIN			mondo.json		http://identifiers.org/hgnc/19012		
HGNC:20001	biolink:NamedThing	PCSK9			mondo.json		http://identifiers.org/hgnc/20001		
MONDO:0023224	biolink:Disease	inherited reflex epilepsy	An instance of reflex epilepsy that is caused by an inherited modification of the individual's genome.	GARD:0002455	mondo.json	hereditary reflex epilepsy	http://purl.obolibrary.org/obo/MONDO_0023224		gard_rare
MONDO:0023226	biolink:Disease	gershinibaruch Leibo syndrome		GARD:0002464	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023226		gard_rare
MONDO:0023227	biolink:Disease	gestational diabetes insipidus	A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low.	UMLS:C2932666|MESH:C548014|GARD:0010702	mondo.json	diabetes insipidus gestational|Gestagenic diabetes insipidus	http://purl.obolibrary.org/obo/MONDO_0023227	http://identifiers.org/mesh/C548014|UMLS:C2932666	gard_rare
MONDO:0011239	biolink:Disease	colobomatous macrophthalmia-microcornea syndrome		UMLS:C1865286|MESH:C566533|OMIM:602499|Orphanet:468672	mondo.json	macrophthalmia, colobomatous, with microcornea|MACOM|MACOM syndrome	http://purl.obolibrary.org/obo/MONDO_0011239	Orphanet:468672|http://identifiers.org/mesh/C566533|https://omim.org/entry/602499|UMLS:C1865286	ordo_disease
MONDO:0037807	biolink:Disease	glycerol metabolism disease	A disease that has its basis in the disruption of glycerol metabolic process.	SCTID:237977000|UMLS:C0342762	mondo.json	disorder of glycerol metabolic process|glycerol metabolic process disease|disorder of glycerol metabolism	http://purl.obolibrary.org/obo/MONDO_0037807	UMLS:C0342762|http://identifiers.org/snomedct/237977000	
NCBITaxon:2743694	biolink:OrganismalEntity	Cyprininae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2743694		
MONDO:0011243	biolink:Disease	grange syndrome	Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.	OMIM:602531|Orphanet:79094|UMLS:C1865267|SCTID:717824007|MESH:C566529	mondo.json	arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly|GRNG|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome|grange syndrome|grange occlusive arterial syndrome	http://purl.obolibrary.org/obo/MONDO_0011243	http://identifiers.org/mesh/C566529|Orphanet:79094|https://omim.org/entry/602531|UMLS:C1865267|http://identifiers.org/snomedct/717824007	ordo_malformation_syndrome
MONDO:0011242	biolink:Disease	Bartter disease type 4a	Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene.	UMLS:C1865270|SCTID:717791000|OMIM:602522|DOID:0110145	mondo.json	Bartter disease type 4a|BSND|Bartter syndrome caused by mutation in BSND|neonatal Bartter syndrome with sensorineural deafness|Bartter syndrome type 4a|BARTS4A|Bartter syndrome, type 4A, neonatal, with sensorineural deafness|Bartter syndrome, type 4A|BSND Bartter syndrome|Bartter syndrome, infantile, with sensorineural deafness|Bartter syndrome, neonatal, with sensorineural deafness|sensorineural deafness with mild renal dysfunction	http://purl.obolibrary.org/obo/MONDO_0011242	DOID:0110145|https://omim.org/entry/602522|UMLS:C1865270|http://identifiers.org/snomedct/717791000	
MONDO:0011245	biolink:Disease	ichthyosis, hystrix-like, with hearing loss		UMLS:C1865234|OMIM:602540|MESH:C566528	mondo.json	hystrix-like ichthyosis with deafness|ichthyosis, hystrix-like, with deafness|HID syndrome	http://purl.obolibrary.org/obo/MONDO_0011245	http://identifiers.org/mesh/C566528|https://omim.org/entry/602540|UMLS:C1865234	
HGNC:10683	biolink:NamedThing	SDHD			mondo.json		http://identifiers.org/hgnc/10683		
MONDO:0011244	biolink:Disease	Marshall-Smith syndrome	Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.	GARD:0006985|MESH:C536026|OMIM:602535|Orphanet:561|SCTID:73284007|DOID:0050858|UMLS:C0265211|ICD9:759.89	mondo.json	accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome|MRSHSS|Marshall-SMITH syndrome|Marshall-Smith syndrome	http://purl.obolibrary.org/obo/MONDO_0011244	http://identifiers.org/mesh/C536026|UMLS:C0265211|Orphanet:561|DOID:0050858|https://omim.org/entry/602535|http://identifiers.org/snomedct/73284007	gard_rare|ordo_malformation_syndrome
MONDO:0011247	biolink:Disease	jejunal atresia with renal adysplasia		MESH:C537567|OMIM:602551|GARD:0009985|UMLS:C1865209	mondo.json	jejunal atresia with renal adysplasia	http://purl.obolibrary.org/obo/MONDO_0011247	http://identifiers.org/mesh/C537567|https://omim.org/entry/602551|UMLS:C1865209	gard_rare
MONDO:0011246	biolink:Disease	megaconial type congenital muscular dystrophy		DOID:0110632|OMIM:602541|Orphanet:280671|GARD:0010317|MESH:C566527|UMLS:C1865233	mondo.json	muscular dystrophy, congenital, with mitochondrial structural abnormalities|muscular dystrophy, congenital, megaconial type|megaconial congenital muscular dystrophy|megaconial type congenital muscular dystrophy|congenital muscular dystrophy with mitochondrial structural abnormalities|congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect|MDCMC|congenital megaconial myopathy|megaconial congénital muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0011246	http://identifiers.org/mesh/C566527|DOID:0110632|https://omim.org/entry/602541|UMLS:C1865233|Orphanet:280671	ordo_disease|gard_rare
MONDO:0011249	biolink:Disease	torsion dystonia with onset in infancy	A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy.	DOID:0090058|UMLS:C1865205|OMIM:602554|MESH:C536969	mondo.json	torsion dystonia with onset in infancy	http://purl.obolibrary.org/obo/MONDO_0011249	DOID:0090058|http://identifiers.org/mesh/C536969|https://omim.org/entry/602554|UMLS:C1865205	
MONDO:0011248	biolink:Disease	distal monosomy 13q	Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.	SCTID:763527007|OMIM:602553|UMLS:C1865208|Orphanet:1590|MESH:C566526	mondo.json	distal 13q deletion|anal atresia, hypospadias, and penoscrotal inversion|deletion 13q32|monosomy 13q32|distal monosomy type 13q|telomeric deletion13q|13q32 deletion	http://purl.obolibrary.org/obo/MONDO_0011248	http://identifiers.org/mesh/C566526|Orphanet:1590|http://identifiers.org/snomedct/763527007|https://omim.org/entry/602553|UMLS:C1865208	ordo_malformation_syndrome
HP:0012415	biolink:PhenotypicFeature	Abnormal blood gas level	An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood.	SNOMEDCT_US:312391003|UMLS:C0476337	mondo.json	Abnormal blood gas level	http://purl.obolibrary.org/obo/HP_0012415		
HP:0012418	biolink:PhenotypicFeature	Hypoxemia	An abnormally low level of blood oxygen.	UMLS:C0700292|SNOMEDCT_US:389087006|MSH:D000860	mondo.json	Hypoxia|Low blood oxygen level	http://purl.obolibrary.org/obo/HP_0012418		
HGNC:10681	biolink:NamedThing	SDHB			mondo.json		http://identifiers.org/hgnc/10681		
HGNC:19016	biolink:NamedThing	TRIM44			mondo.json		http://identifiers.org/hgnc/19016		
HGNC:10682	biolink:NamedThing	SDHC			mondo.json		http://identifiers.org/hgnc/10682		
MONDO:0011241	biolink:Disease	pseudoacromegaly with severe insulin resistance		OMIM:602511|MESH:C566531|UMLS:C1865284	mondo.json	pseudoacromegaly with severe insulin resistance	http://purl.obolibrary.org/obo/MONDO_0011241	https://omim.org/entry/602511|UMLS:C1865284|http://identifiers.org/mesh/C566531	
MONDO:0011240	biolink:Disease	megalencephaly-capillary malformation-polymicrogyria syndrome	A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.	SCTID:703370002|UMLS:C1865285|GARD:0006950|MESH:C536142|ICD9:759.89|Orphanet:60040|OMIM:602501	mondo.json	MCMTC|megalencephaly-capillary malformation syndrome|megalencephaly-capillary malformation-polymicrogyria syndrome|macrocephaly cutis marmorata telangiectatica congenita|MCAP|macrocephaly-cutis marmorata telangiectatica congenita|megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|M-CM|megalencephaly cutis marmorata telangiectatica congenita|M-CMTC|megalocephaly cutis marmorata telangiectatica congenita|macrocephaly-capillary malformation|megalencephaly-cutis marmorata telangiectatica congenita|macrocephaly-cutis marmorata telangiectatica congenita syndrome|megalencephaly-capillary malformation-polymicrogyria syndrome, somatic|MCM	http://purl.obolibrary.org/obo/MONDO_0011240	http://identifiers.org/snomedct/703370002|https://omim.org/entry/602501|UMLS:C1865285|Orphanet:60040|http://identifiers.org/mesh/C536142	ordo_malformation_syndrome
HGNC:10680	biolink:NamedThing	SDHA			mondo.json		http://identifiers.org/hgnc/10680		
MONDO:0023211	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0023211		
MONDO:0023212	biolink:Disease	Garret-Tripp syndrome		MESH:C535646|GARD:0002435|UMLS:C2930965	mondo.json	intellectual disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip|Intellecutal disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip|polydactyly alopecia seborrheic dermatitis|mental retardation with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip|Garret Tripp syndrome	http://purl.obolibrary.org/obo/MONDO_0023212	http://identifiers.org/mesh/C535646|UMLS:C2930965	gard_rare
MONDO:0023214	biolink:Disease	gas bloat syndrome		MESH:C535647|UMLS:C2930966|GARD:0006484	mondo.json	post-fundoplication syndrome	http://purl.obolibrary.org/obo/MONDO_0023214	http://identifiers.org/mesh/C535647|UMLS:C2930966	gard_rare
FOODON:03309823	biolink:NamedThing	shrimp paste	definition: Shrimp paste or shrimp sauce is a fermented condiment commonly used in Southeast Asian, Northeastern South Asian and Southern Chinese cuisines.	SUBSET_SIREN:F9823	mondo.json	kapi ngapi terasi belacan belachan blachang mắm ruốc mắm tép mắm tôm bagoong alamang bagoong aramang haa1 zoeng3/haa1 gou1 hom ha/hae ko sidol|shrimp sauce	http://purl.obolibrary.org/obo/FOODON_03309823		"subset_siren"
MONDO:0023217	biolink:Disease	obsolete gastro-enteropancreatic neuroendocrine tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0023217		
MONDO:0011229	biolink:Disease	ethylmalonic encephalopathy	Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.	SCTID:723307008|MESH:C535737|UMLS:C1865349|Orphanet:51188|DOID:0060640|OMIM:602473|GARD:0002198	mondo.json	encephalopathy, petechiae, and ethylmalonic aciduria|encephalopathy, ethylmalonic|EE|EPEMA syndrome|syndrome of encephalopathy, petechiae, and ethylmalonic aciduria|eme	http://purl.obolibrary.org/obo/MONDO_0011229	http://identifiers.org/snomedct/723307008|http://identifiers.org/mesh/C535737|https://omim.org/entry/602473|UMLS:C1865349|DOID:0060640|Orphanet:51188	ordo_disease|gard_rare
MONDO:0011228	biolink:Disease	creases, infra-auricular cutaneous, with tall stature and advanced bone age		MESH:C566543|OMIM:602472|UMLS:C1865360	mondo.json	creases, infra-auricular cutaneous, with tall stature and advanced bone age	http://purl.obolibrary.org/obo/MONDO_0011228	http://identifiers.org/mesh/C566543|https://omim.org/entry/602472|UMLS:C1865360	
HGNC:10648	biolink:NamedThing	AIMP1			mondo.json		http://identifiers.org/hgnc/10648		
MONDO:0011232	biolink:Disease	migraine, familial hemiplegic, 2	Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the ATP1A2 gene.	DOID:0111182|UMLS:C1865322|OMIM:602481|GARD:0010095	mondo.json	hemiplegic migraine, familial type 2|migraine, familial basilar|migraine, familial hemiplegic, type 2|familial or sporadic hemiplegic migraine caused by mutation in ATP1A2|Mhp2|FHM2|familial hemiplegic migraine type 2|migraine, familial hemiplegic, 2|ATP1A2 familial or sporadic hemiplegic migraine	http://purl.obolibrary.org/obo/MONDO_0011232	DOID:0111182|https://omim.org/entry/602481|UMLS:C1865322	
MONDO:0013895	biolink:Disease	Adams-Oliver syndrome 3	Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the RBPJ gene.	UMLS:C3553748|OMIM:614814	mondo.json	Adams-Oliver syndrome caused by mutation in RBPJ|AOS3|RBPJ Adams-Oliver syndrome|Adams-Oliver syndrome type 3|Adams-Oliver syndrome 3	http://purl.obolibrary.org/obo/MONDO_0013895	UMLS:C3553748|https://omim.org/entry/614814	
MONDO:0011231	biolink:Disease	febrile seizures, familial, 2		OMIM:602477|MESH:C566541|DOID:0111310|UMLS:C1865342	mondo.json	generalized epilepsy with febrile seizures plus, type 11|convulsions, familial febrile, 2|FEB2|febrile seizures, familial, 2|epilepsy, idiopathic generalized, susceptibility to, 17	http://purl.obolibrary.org/obo/MONDO_0011231	http://identifiers.org/mesh/C566541|DOID:0111310|https://omim.org/entry/602477|UMLS:C1865342	
MONDO:0013896	biolink:Disease	Joubert syndrome 18	Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene.	UMLS:C3553758|DOID:0110987|OMIM:614815	mondo.json	TCTN3 Joubert syndrome|Joubert syndrome caused by mutation in TCTN3|Joubert syndrome type 18|Joubert syndrome 18|JBTS18	http://purl.obolibrary.org/obo/MONDO_0013896	DOID:0110987|UMLS:C3553758|https://omim.org/entry/614815	
MONDO:0013893	biolink:Disease	multiple sclerosis, susceptibility to, 5	Any multiple sclerosis, susceptibility to in which the cause of the disease is a mutation in the TNFRSF1A gene.	OMIM:614810	mondo.json	multiple sclerosis, susceptibility to caused by mutation in TNFRSF1A|TNFRSF1A multiple sclerosis, susceptibility to|multiple sclerosis, susceptibility to, type 5|MS5|susceptibility to multiple sclerosis 5|multiple sclerosis, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0013893	https://omim.org/entry/614810	predisposition
MONDO:0011234	biolink:Disease	auriculocondylar syndrome 1	Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene.	OMIM:602483	mondo.json	GNAI3 auriculocondylar syndrome|AURICULOCONDYLAR syndrome 1|ARCND1|question Mark ears syndrome|Auriculocondylar syndrome 1|auriculocondylar syndrome caused by mutation in GNAI3|Auriculocondylar syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0011234	https://omim.org/entry/602483	
MONDO:0037821	biolink:Disease	porphyrin metabolism disease	A disease that has its basis in the disruption of porphyrin-containing compound metabolic process.	SCTID:29094004	mondo.json	porphyrin-containing compound metabolic process disease|disorder of porphyrin and heme metabolism|disorder of porphyrin-containing compound metabolic process|disorder of porphyrin metabolism	http://purl.obolibrary.org/obo/MONDO_0037821	http://identifiers.org/snomedct/29094004	
MONDO:0011233	biolink:Disease	Axenfeld-Rieger syndrome type 3	Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene.	Orphanet:98978|Orphanet:91483|ICD9:743.44|DOID:0110122|SCTID:22155002|OMIM:602482	mondo.json	RIEG3|Axenfeld-Rieger syndrome, type 3|Axenfeld-Rieger anomaly|anterior chamber cleavage syndrome|Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss|anterior segment mesenchymal dysgenesis|Rieger syndrome, type 3|Axenfeld-Rieger syndrome caused by mutation in FOXC1|Axenfeld anomaly|Axenfeld-Rieger anomaly with Cardiac defects and/Or sensorineural hearing loss|anterior chamber Cleavage syndrome|Rieger anomaly|Axenfeld-Rieger syndrome type 3|Rieger syndrome type 3|Axenfeld-Rieger anomaly with or without Cardiac defects and/or sensorineural hearing loss|FOXC1 Axenfeld-Rieger syndrome	http://purl.obolibrary.org/obo/MONDO_0011233	http://identifiers.org/snomedct/22155002|DOID:0110122|https://omim.org/entry/602482	
MONDO:0013894	biolink:Disease	short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome		Orphanet:314394|UMLS:C3542022|OMIM:614813	mondo.json	soft syndrome|soft|short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	http://purl.obolibrary.org/obo/MONDO_0013894	UMLS:C3542022|Orphanet:314394|https://omim.org/entry/614813	ordo_disease
MONDO:0011236	biolink:Disease	hyperinsulinism due to glucokinase deficiency	Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.	DOID:0070216|GARD:0009930|GARD:0002818|OMIM:602485|SCTID:717182006|MESH:C538374|Orphanet:79299	mondo.json	hyperinsulinemic hypoglycemia, familial, 3|hyperinsulinemic hypoglycemia familial 3|hyperinsulinemic hypoglycemia, familial, type 3|hyperinsulinemic hypoglycemia due to glucokinase deficiency|HHF3	http://purl.obolibrary.org/obo/MONDO_0011236	http://identifiers.org/mesh/C538374|http://identifiers.org/snomedct/717182006|Orphanet:79299|https://omim.org/entry/602485|DOID:0070216	ordo_disease|gard_rare
MONDO:0013899	biolink:Disease	Weill-Marchesani syndrome 3	Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene.	OMIM:614819|UMLS:C3553785	mondo.json	Weill-Marchesani syndrome 3, recessive|Weill-Marchesani syndrome type 3|LTBP2 Weill-Marchesani syndrome|Weill-Marchesani syndrome caused by mutation in LTBP2|WMS3|Weill-Marchesani syndrome 3	http://purl.obolibrary.org/obo/MONDO_0013899	https://omim.org/entry/614819|UMLS:C3553785	
MONDO:0011235	biolink:Disease	pelvic dysplasia-arthrogryposis of lower limbs syndrome		UMLS:C1865294|Orphanet:2840|GARD:0004269|OMIM:602484	mondo.json	Ray-Peterson-Scott syndrome|pelvic dysplasia arthrogryposis of lower limbs|pelvic hypoplasia with arthrogryposis of lower limbs|pelvic hypoplasia with LOWER-limb arthrogryposis|pelvic hypoplasia with lower limb arthrogryposis	http://purl.obolibrary.org/obo/MONDO_0011235	Orphanet:2840|https://omim.org/entry/602484|UMLS:C1865294	ordo_malformation_syndrome
MONDO:0013897	biolink:Disease	Loeys-Dietz syndrome 4	Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene.	GARD:0010588|DOID:0070233|OMIM:614816|UMLS:C3553762	mondo.json	aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations|Loeys-Dietz syndrome 4|Loeys-Dietz syndrome type 4|Loeys-Dietz syndrome caused by mutation in TGFB2|LDS4|TGFB2 Loeys-Dietz syndrome	http://purl.obolibrary.org/obo/MONDO_0013897	UMLS:C3553762|https://omim.org/entry/614816|DOID:0070233	
MONDO:0011238	biolink:Disease	chondrodysplasia punctata, brachytelephalangic, autosomal		OMIM:602497|UMLS:C1844853	mondo.json	brachytelephalangic chondrodysplasia punctata|chondrodysplasia punctata, brachytelephalangic, autosomal	http://purl.obolibrary.org/obo/MONDO_0011238	https://omim.org/entry/602497	
MONDO:0013898	biolink:Disease	karyomegalic interstitial nephritis	Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene.	OMIM:614817|GARD:0011003|Orphanet:401996|UMLS:C3553774|DOID:0060911	mondo.json	interstitial nephritis caused by mutation in FAN1|kin|FAN1 interstitial nephritis|karyomegalic interstitial nephritis|KMIN|systemic karyomegaly|interstitial nephritis, karyomegalic	http://purl.obolibrary.org/obo/MONDO_0013898	Orphanet:401996|UMLS:C3553774|DOID:0060911|https://omim.org/entry/614817	gard_rare|ordo_disease
MONDO:0011237	biolink:Disease	hyperlipidemia, combined, 1	Any familial combined hyperlipidemia in which the cause of the disease is a mutation in the USF1 gene.	MESH:C566535|UMLS:C1865289|OMIM:602491	mondo.json	hyperlipidemia, combined, type 1|hyperlipidemia, familial combined, susceptibility to|USF1 familial combined hyperlipidemia|hyperlipidemia, familial combined, 1|hyplip1|hyperlipidemia, combined, 1|familial combined hyperlipidemia caused by mutation in USF1	http://purl.obolibrary.org/obo/MONDO_0011237	http://identifiers.org/mesh/C566535|https://omim.org/entry/602491|UMLS:C1865289	
MONDO:0023208	biolink:Disease	Fuqua Berkovitz syndrome		GARD:0002415	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023208		gard_rare
CARO:0001000	biolink:NamedThing	multi-cell-part structure			mondo.json		http://purl.obolibrary.org/obo/CARO_0001000		
MONDO:0023209	biolink:Disease	galactorrhoea-hyperprolactinaemia		GARD:0008400|MESH:C535402	mondo.json	galactorrhoea-hyperprolactinaemia|hyperprolactinaemia|galactorrhea-hyperprolactinemia	http://purl.obolibrary.org/obo/MONDO_0023209	http://identifiers.org/mesh/C535402	gard_rare
NCBITaxon:76804	biolink:OrganismalEntity	Nidovirales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_76804		
MONDO:0013891	biolink:Disease	amyotrophic lateral sclerosis type 18	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene.	UMLS:C3553719|DOID:0060209|OMIM:614808	mondo.json	ALS18|amyotrophic lateral sclerosis 18|PFN1 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis type 18|amyotrophic lateral sclerosis caused by mutation in PFN1	http://purl.obolibrary.org/obo/MONDO_0013891	DOID:0060209|UMLS:C3553719|https://omim.org/entry/614808	
NCBITaxon:76803	biolink:OrganismalEntity	Arteriviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_76803		
MONDO:0013892	biolink:Disease	C3 glomerulonephritis	Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease.	NCIT:C123043|OMIM:614809|Orphanet:329931|UMLS:C3553720|UMLS:CN187045|UMLS:C4055342	mondo.json	CFHR5 deficiency|nephropathy due to CFHR5 deficiency|complement-mediated membranoproliferative glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0013892	UMLS:CN187045|Orphanet:329931|UMLS:C4055342|UMLS:C3553720|https://omim.org/entry/614809|NCIT:C123043	ordo_histopathological_subtype
MONDO:0011230	biolink:Disease	ossification of the posterior longitudinal ligament of the spine	A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms.	SCTID:90448008|NCIT:C84975|EFO:0005895|OMIM:602475|MESH:C537143|UMLS:C1865343|GARD:0009699|DOID:0060887	mondo.json	ossification of the POSTERIOR longitudinal ligament of spine|OPLL|ossification of Posterior longitudinal ligament	http://purl.obolibrary.org/obo/MONDO_0011230	http://identifiers.org/snomedct/90448008|https://omim.org/entry/602475|UMLS:C1865343|DOID:0060887|NCIT:C84975|http://identifiers.org/mesh/C537143	
CARO:0001001	biolink:NamedThing	neuron projection bundle			mondo.json		http://purl.obolibrary.org/obo/CARO_0001001		
MONDO:0013890	biolink:Disease	congenital myopathy with internal nuclei and atypical cores	Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.	Orphanet:319160|OMIM:614807|UMLS:C3553709|SCTID:764945007	mondo.json	myopathy, centronuclear, 4|centronuclear myopathy type 4|centronuclear myopathy 4|CNM4|myopathy, centronuclear, type 4	http://purl.obolibrary.org/obo/MONDO_0013890	UMLS:C3553709|https://omim.org/entry/614807|Orphanet:319160|http://identifiers.org/snomedct/764945007	ordo_disease
MONDO:0023200	biolink:Disease	Fryns Fabry Remans syndrome		GARD:0002407	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023200		gard_rare
MONDO:0023201	biolink:Disease	Fryns Smeets Thiry syndrome		Orphanet:2058|GARD:0002409	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023201	Orphanet:2058	gard_rare
NCBITaxon:110618	biolink:OrganismalEntity	Nectriaceae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_110618		
MONDO:0023203	biolink:Disease	Fuchs atrophia gyrata chorioideae et retinae		MESH:C538071	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023203	http://identifiers.org/mesh/C538071	
MONDO:0023204	biolink:Disease	Fukuda-Miyanomae-Nakata syndrome		UMLS:CN776933|OMIM:253800|GARD:0002411|Orphanet:272|Orphanet:2060|GARD:0006475	mondo.json	muscular dystrophy, congenital progressive, with intellectual disability|muscular dystrophy, congenital, with central nervous system involvement|muscular dystrophy, congenital, Fukuyama type|Cerebromuscular dystrophy, Fukuyama type|Fukuyama type muscular dystrophy|muscular dystrophy, congenital progressive, with mental retardation|FCMD	http://purl.obolibrary.org/obo/MONDO_0023204	Orphanet:2060|UMLS:CN776933	gard_rare
MONDO:0023206	biolink:Disease	functional pancreatic neuroendocrine tumor	A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion.	NCIT:C45840|UMLS:C1708107|GARD:0002414|Orphanet:506060	mondo.json	functioning well-differentiated NEN of pancreas|functioning neuroendocrine tumor of pancreas|functional pancreatic neuroendocrine tumor|functioning well-differentiated neuroendocrine neoplasm of pancreas|functioning PNET|functioning well-differentiated pancreatic NEN|syndromic pancreatic neuroendocrine tumor|functioning well-differentiated pancreatic neuroendocrine neoplasm|functioning pancreatic endocrine tumor|syndromic pancreatic NET|functioning well differentiated pancreatic endocrine tumor|functioning pancreatic NET|functioning well differentiated pancreatic endocrine neoplasm|functioning pancreatic neuroendocrine tumor|functional pancreatic NET	http://purl.obolibrary.org/obo/MONDO_0023206	UMLS:C1708107|NCIT:C45840|Orphanet:506060	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0011218	biolink:Disease	autosomal recessive congenital ichthyosis 11		MESH:C536273|OMIM:602400|UMLS:C1835851|DOID:0060720|GARD:0010116|Orphanet:91132	mondo.json	ichthyosis, congenital, autosomal recessive type 11|ichthyosis with hypotrichosis, autosomal recessive|ichthyosis-hypotrichosis syndrome|ichthyosis, congenital, autosomal recessive 11|ichthyosis-follicular atrophoderma-hypotrichosis syndrome|ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome|autosomal recessive congenital ichthyosis 11|ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis|autosomal recessive congenital ichthyosis type 11|ARIH|hypotrichosis-congenital ichthyosis syndrome|ARCI11|IFAH syndrome|autosomal recessive ichthyosis with hypotrichosis|IHS	http://purl.obolibrary.org/obo/MONDO_0011218	UMLS:C1835851|Orphanet:91132|http://identifiers.org/mesh/C536273|https://omim.org/entry/602400|DOID:0060720	ordo_disease
MONDO:0011217	biolink:Disease	desmosterolosis	Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.	SCTID:709490002|ICD9:272.8|MESH:C566555|OMIM:602398|Orphanet:35107|GARD:0010283|UMLS:C1865596	mondo.json	desmosterolosis	http://purl.obolibrary.org/obo/MONDO_0011217	http://identifiers.org/snomedct/709490002|http://identifiers.org/mesh/C566555|https://omim.org/entry/602398|Orphanet:35107|UMLS:C1865596	ordo_disease|gard_rare
MONDO:0013879	biolink:Disease	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2		Orphanet:88|UMLS:C3553622|OMIM:614743	mondo.json	pulmonary fibrosis, idiopathic, susceptibility to|pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 2|pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2|pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 2|aplastic anemia|PFBMFT2	http://purl.obolibrary.org/obo/MONDO_0013879	UMLS:C3553622|https://omim.org/entry/614743	
MONDO:0037829	biolink:Disease	purine metabolism disease	A disease that has its basis in the disruption of purine nucleobase metabolic process.	UMLS:C0268104|SCTID:32612005	mondo.json	disorder of purine nucleobase metabolic process|purine nucleobase metabolic process disease|disorder of purine metabolism	http://purl.obolibrary.org/obo/MONDO_0037829	http://identifiers.org/snomedct/32612005|UMLS:C0268104	
MONDO:0011219	biolink:Disease	Fried's tooth and nail syndrome		DOID:0111661|UMLS:C0406715|Orphanet:99672|SCTID:239020008|OMIM:602401	mondo.json	ectodermal dysplasia 8, hair/tooth/nail type|ECTD8	http://purl.obolibrary.org/obo/MONDO_0011219	http://identifiers.org/snomedct/239020008|UMLS:C0406715|Orphanet:99672|DOID:0111661|https://omim.org/entry/602401	ordo_malformation_syndrome
MONDO:0013884	biolink:Disease	neuronopathy, distal hereditary motor, type 5B	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene.	OMIM:614751|DOID:0111205|UMLS:C3553656	mondo.json	dHMN 5B|neuronopathy, distal hereditary motor, type VB|spinal muscular atrophy, distal, type 5B|REEP1 neuronopathy, distal hereditary motor|HMN 5B|neuronopathy, distal hereditary motor caused by mutation in REEP1|HMN5B|neuropathy, distal hereditary motor, type 5B	http://purl.obolibrary.org/obo/MONDO_0013884	DOID:0111205|UMLS:C3553656|https://omim.org/entry/614751	
MONDO:0011221	biolink:Disease	Weyers ulnar ray/oligodactyly syndrome		UMLS:C1865566|GARD:0010178|MESH:C536696|OMIM:602418	mondo.json	Weyers ulnar ray/oligodactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0011221	http://identifiers.org/mesh/C536696|https://omim.org/entry/602418|UMLS:C1865566	gard_rare
NCBITaxon:49202	biolink:OrganismalEntity	Dermacentor marginatus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_49202		
NCBITaxon:171637	biolink:OrganismalEntity	Amygdaloideae		PMID:24631854|GC_ID:1	mondo.json	Spiraeoideae|Maloideae	http://purl.obolibrary.org/obo/NCBITaxon_171637		
MONDO:0011220	biolink:Disease	parkinson disease 3, autosomal dominant		DOID:0111250|OMIM:602404|UMLS:C1865581|MESH:C566552|GARD:0008578	mondo.json	Parkinson disease 3|autosomal dominant Parkinson disease|Parkinson disease type 3|Parkinson disease 3, autosomal dominant|PARK3|Parkinson disease 3, autosomal dominant Lewy body	http://purl.obolibrary.org/obo/MONDO_0011220	http://identifiers.org/mesh/C566552|DOID:0111250|https://omim.org/entry/602404|UMLS:C1865581	
MONDO:0013885	biolink:Disease	Malan overgrowth syndrome	Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies.	OMIM:614753|UMLS:C3553660|Orphanet:420179|SCTID:763795006	mondo.json	Sotos syndrome 2|SOTOS2|Sotos syndrome type 2|Malan syndrome	http://purl.obolibrary.org/obo/MONDO_0013885	Orphanet:420179|UMLS:C3553660|https://omim.org/entry/614753|http://identifiers.org/snomedct/763795006	ordo_malformation_syndrome
HGNC:10664	biolink:NamedThing	CWC27			mondo.json		http://identifiers.org/hgnc/10664		
MONDO:0011223	biolink:Disease	amyotrophic lateral sclerosis type 4	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene.	GARD:0010502|UMLS:C1865409|MESH:C566550|OMIM:602433|DOID:0060196|Orphanet:357043	mondo.json	ALS 4|ALS4|SETX amyotrophic lateral sclerosis|neuronopathy, distal hereditary motor, with pyramidal features|dHMN with upper motor neuron signs|amyotrophic lateral sclerosis caused by mutation in SETX|distal hereditary motor neuropathy with pyramidal features|amyotrophic lateral sclerosis 4|amyotrophic lateral sclerosis 4, juvenile|distal hereditary motor neuropathy with upper motor neuron signs	http://purl.obolibrary.org/obo/MONDO_0011223	Orphanet:357043|http://identifiers.org/mesh/C566550|DOID:0060196|https://omim.org/entry/602433|UMLS:C1865409	gard_rare|ordo_disease
MONDO:0013882	biolink:Disease	hyperphosphatasia with intellectual disability syndrome 2	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene.	UMLS:C3553637|OMIM:614749	mondo.json	PIGO hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia with intellectual disability syndrome 2|HPMRS2|hyperphosphatasia with mental retardation syndrome type 2|hyperphosphatasia with intellectual disability syndrome type 2|glycosylphosphatidylinositol biosynthesis defect 6|hyperphosphatasia with mental retardation syndrome 2|hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGO	http://purl.obolibrary.org/obo/MONDO_0013882	UMLS:C3553637|https://omim.org/entry/614749	
MONDO:0011222	biolink:Disease	glaucoma 1, open angle, D		MESH:C566551|UMLS:C1865427|OMIM:602429	mondo.json	GLC1D|glaucoma 1D, primary open angle|glaucoma, primary open angle, adult-onset|glaucoma 1, open angle, D	http://purl.obolibrary.org/obo/MONDO_0011222	http://identifiers.org/mesh/C566551|https://omim.org/entry/602429|UMLS:C1865427	obsoletion_candidate
MONDO:0013883	biolink:Disease	congenital myasthenic syndrome 13	Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene.	DOID:0110676|OMIM:614750|UMLS:C3553645	mondo.json	myasthenic syndrome, congenital, 13, with tubular aggregates|myasthenic syndrome, congenital, 13|myasthenic syndrome, congenital, with tubular aggregates 2|DPAGT1 congenital myasthenic syndromes with glycosylation defect|CMS13|congenital myasthenic syndrome type 13|congenital myasthenic syndrome 13 with tubular aggregates|congenital myasthenic syndrome with tubular aggregates 2|congenital myasthenic syndromes with glycosylation defect caused by mutation in DPAGT1|CMSTA2|myasthenic syndrome, congenital, type 13	http://purl.obolibrary.org/obo/MONDO_0013883	DOID:0110676|UMLS:C3553645|https://omim.org/entry/614750	
MONDO:0011225	biolink:Disease	severe combined immunodeficiency due to DCLRE1C deficiency	Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.	DOID:0060006|OMIM:603554|DOID:0090012|SCTID:715982006|GARD:0009987|OMIM:602450|Orphanet:275	mondo.json	severe combined immunodeficiency, Athabaskan type|RS-SCID|SCID due to artemis deficiency|severe combined immunodeficiency (disease) caused by mutation in DCLRE1C|Athabaskan Severe combined immunodeficiency|severe combined immunodeficiency due to DCLRE1C deficiency|SCID, Athabaskan type|SCID due to DCLRE1C deficiency|severe combined immunodeficiency with sensitivity to ionizing radiation|severe combined immunodeficiency, Athabascan type|SCID due to ARTEMIS deficiency|severe combined immunodeficiency, Athabaskan-type|SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation|DCLRE1C severe combined immunodeficiency (disease)|artemis deficiency|severe combined immunodeficiency due to artemis deficiency|SCID, Athabascan type|severe combined immunodeficiency due to ARTEMIS deficiency|severe combined immunodeficiency, partial	http://purl.obolibrary.org/obo/MONDO_0011225	Orphanet:275|http://identifiers.org/snomedct/715982006|DOID:0090012|https://omim.org/entry/602450	gard_rare|ordo_disease
MONDO:0013888	biolink:Disease	tremor, hereditary essential, 4	Any essential tremor in which the cause of the disease is a mutation in the FUS gene.	UMLS:C3539195|OMIM:614782|DOID:0111431	mondo.json	FUS essential tremor|essential tremor, hereditary, 4|tremor, hereditary essential, type 4|ETM4|tremor, hereditary essential, 4|essential tremor caused by mutation in FUS	http://purl.obolibrary.org/obo/MONDO_0013888	UMLS:C3539195|DOID:0111431|https://omim.org/entry/614782	
MONDO:0011224	biolink:Disease	monomelic amyotrophy	Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.	UMLS:C1865384|OMIM:602440|Orphanet:65684|MedDRA:10069681|EFO:1001989|GARD:0009697|MESH:C538253	mondo.json	spinal muscular atrophy, juvenile, nonprogressive|spinal muscular atrophy juvenile nonprogressive|Hirayama disease|amyotrophy, monomelic|JMADUE|benign focal amyotrophy|juvenile muscular atrophy of distal upper extremity|juvenile muscular atrophy of the distal upper limb	http://purl.obolibrary.org/obo/MONDO_0011224	http://identifiers.org/mesh/C538253|https://omim.org/entry/602440|UMLS:C1865384|Orphanet:65684	ordo_disease|gard_rare
MONDO:0013889	biolink:Disease	short stature-optic atrophy-Pelger-HuC+t anomaly syndrome		UMLS:C3541319|Orphanet:391677|OMIM:614800|GARD:0010945	mondo.json	soph|short stature-optic atrophy-Pelger-HuC+t anomaly syndrome|short stature-optic atrophy-Pelger-Huët anomaly syndrome|soph syndrome|short stature, optic nerve atrophy, and Pelger-Huet anomaly|short stature with optic atrophy and Pelger-Huët anomaly syndrome	http://purl.obolibrary.org/obo/MONDO_0013889	Orphanet:391677|UMLS:C3541319|https://omim.org/entry/614800	ordo_malformation_syndrome
HP:0000421	biolink:PhenotypicFeature	Epistaxis	Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.	ICD10:R04.0|SNOMEDCT_US:12441001|EFO:0003895|SNOMEDCT_US:249366005|UMLS:C0014591|ICD9:784.7|MSH:D004844|COHD:318556|NCIT:C26766	mondo.json	Nose bleed|Frequent nosebleeds|Nasal hemorrhage|Nasal haemorrhage|Nosebleed|Nose bleeding|Bloody nose	http://purl.obolibrary.org/obo/HP_0000421		
MONDO:0011227	biolink:Disease	short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome		Orphanet:397623|MESH:C566544|UMLS:C1865361|OMIM:602471|SCTID:417081007	mondo.json	SAMS syndrome|SAMS|short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities|short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities	http://purl.obolibrary.org/obo/MONDO_0011227	http://identifiers.org/mesh/C566544|http://identifiers.org/snomedct/417081007|https://omim.org/entry/602471|Orphanet:397623|UMLS:C1865361	ordo_malformation_syndrome
MONDO:0013886	biolink:Disease	nonprogressive cerebellar atxia with intellectual disability	Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).	DOID:0050998|UMLS:C3553661|Orphanet:314647|OMIM:614756|SCTID:723441001	mondo.json	cerebellar ataxia, nonprogressive, with mental retardation|cerebellar ataxia, nonprogressive, with intellectual disability|CANPMR|nonprogressive cerebellar ataxia with mental retardation|nonprogressive cerebellar ataxia with intellectual disability|nonprogressive cerebellar atxia with intellectual disability|cerebellar dysfunction with variable cognitive and behavioral abnormalities|non-progressive cerebellar ataxia with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0013886	http://identifiers.org/snomedct/723441001|DOID:0050998|Orphanet:314647|UMLS:C3553661|https://omim.org/entry/614756	ordo_disease
MONDO:0011226	biolink:Disease	autosomal dominant nonsyndromic hearing loss 15	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene.	OMIM:602459|UMLS:C1865366|MESH:C566545|DOID:0110546	mondo.json	POU4F3 autosomal dominant nonsyndromic deafness|DFNA15|autosomal dominant nonsyndromic deafness 15|deafness, autosomal dominant type 15|autosomal dominant nonsyndromic deafness type 15|deafness, autosomal dominant 15|autosomal dominant deafness 15|autosomal dominant nonsyndromic deafness caused by mutation in POU4F3	http://purl.obolibrary.org/obo/MONDO_0011226	http://identifiers.org/mesh/C566545|DOID:0110546|https://omim.org/entry/602459|UMLS:C1865366	
MONDO:0013887	biolink:Disease	heterotaxy, visceral, 6, autosomal		OMIM:614779|UMLS:C3553676	mondo.json	heterotaxy, visceral, 6, autosomal|HTX6|heterotaxy, visceral, 6, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0013887	UMLS:C3553676|https://omim.org/entry/614779	
CARO:0001010	biolink:NamedThing	organism or virus or viroid			mondo.json		http://purl.obolibrary.org/obo/CARO_0001010		
MONDO:0013880	biolink:Disease	facial paresis, hereditary congenital, 3	Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene.	OMIM:614744|UMLS:C3553625	mondo.json	HOXB1 congenital hereditary facial paralysis-variable hearing loss syndrome|congenital hereditary facial paralysis-variable hearing loss syndrome caused by mutation in HOXB1|HCFP3|facial paresis, hereditary congenital, 3|facial paresis, hereditary congenital, type 3	http://purl.obolibrary.org/obo/MONDO_0013880	UMLS:C3553625|https://omim.org/entry/614744	
MONDO:0013881	biolink:Disease	congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.	UMLS:C3553636|OMIM:614748|Orphanet:306504	mondo.json	congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|JEB with respiratory and renal involvement|junctional epidermolysis bullosa with respiratory and renal involvement|congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome|interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital|congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome|JEB-RR|ILNEB|congenital ILNEB syndrome|congenital NEP syndrome	http://purl.obolibrary.org/obo/MONDO_0013881	https://omim.org/entry/614748|Orphanet:306504	ordo_disease
HGNC:10660	biolink:NamedThing	SDC3			mondo.json		http://identifiers.org/hgnc/10660		
NCBITaxon:5988	biolink:OrganismalEntity	Litostomatea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5988		
MONDO:0001800	biolink:Disease	equatorial staphyloma		SCTID:82146006|UMLS:C0155361|DOID:13788|ICD9:379.13	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001800	http://identifiers.org/snomedct/82146006|UMLS:C0155361|DOID:13788	
NCBITaxon:37296	biolink:OrganismalEntity	Human gammaherpesvirus 8		GC_ID:1	mondo.json	Kaposi's sarcoma-associated herpesvirus|Kaposi's sarcoma-associated herpesvirus - Human herpesvirus 8|Human herpesvirus 8 type P|Kaposi's sarcoma herpesvirus|KSHV|Kaposi's sarcoma-associated herpes-like virus|Human herpesvirus 8|HHV8	http://purl.obolibrary.org/obo/NCBITaxon_37296		
CL:0000765	biolink:Cell	erythroblast	A nucleated precursor of an erythrocyte that lacks hematopoietic lineage markers.	BTO:0001571|CALOHA:TS-0289|FMA:83504	mondo.json	normoblast	http://purl.obolibrary.org/obo/CL_0000765		
HGNC:10627	biolink:NamedThing	CCL3			mondo.json		http://identifiers.org/hgnc/10627		
CL:1000979	biolink:Cell	ureter smooth muscle cell		KUPO:0001118	mondo.json		http://purl.obolibrary.org/obo/CL_1000979		
CL:0000766	biolink:Cell	myeloid leukocyte	A cell of the monocyte, granulocyte, or mast cell lineage.		mondo.json		http://purl.obolibrary.org/obo/CL_0000766		
HGNC:10628	biolink:NamedThing	CCL3L1			mondo.json		http://identifiers.org/hgnc/10628		
GO:0062013	biolink:NamedThing	positive regulation of small molecule metabolic process	Any process that activates or increases the frequency, rate or extent of a small molecule metabolic process.		mondo.json	positive regulation of small molecule metabolism	http://purl.obolibrary.org/obo/GO_0062013		
GO:0062012	biolink:NamedThing	regulation of small molecule metabolic process	Any process that modulates the rate, frequency or extent of a small molecule metabolic process.		mondo.json	regulation of small molecule metabolism	http://purl.obolibrary.org/obo/GO_0062012		
UBERON:0010414	biolink:AnatomicalEntity	omental fat pad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010414		
GO:0062014	biolink:NamedThing	negative regulation of small molecule metabolic process	Any process that stops, prevents or reduces the frequency, rate or extent of a small molecule metabolic process.		mondo.json	negative regulation of small molecule metabolism	http://purl.obolibrary.org/obo/GO_0062014		
UBERON:0010412	biolink:AnatomicalEntity	epididymal fat pad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010412		
UBERON:0010413	biolink:AnatomicalEntity	parametrial fat pad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010413		
HGNC:7967	biolink:NamedThing	NR1H4			mondo.json		http://identifiers.org/hgnc/7967		
UBERON:0010418	biolink:AnatomicalEntity	urethral opening			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010418		
CL:0000762	biolink:Cell	nucleated thrombocyte	A nucleated blood cell involved in coagulation, typically seen in birds and other non-mammalian vertebrates.		mondo.json		http://purl.obolibrary.org/obo/CL_0000762		
CL:0000763	biolink:Cell	myeloid cell	A cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.	CALOHA:TS-0647|BTO:0001441	mondo.json		http://purl.obolibrary.org/obo/CL_0000763		
NCBITaxon:49274	biolink:OrganismalEntity	Solanum subgen. Lycopersicon		GC_ID:1	mondo.json	Lycopersicon	http://purl.obolibrary.org/obo/NCBITaxon_49274		
CL:0000764	biolink:Cell	erythroid lineage cell	A immature or mature cell in the lineage leading to and including erythrocytes.	CALOHA:TS-0290|FMA:83516|FMA:62845	mondo.json	erythropoietic cell	http://purl.obolibrary.org/obo/CL_0000764		
UBERON:0010417	biolink:AnatomicalEntity	lymph node T cell domain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010417		
HGNC:7961	biolink:NamedThing	NR0B2			mondo.json		http://identifiers.org/hgnc/7961		
HGNC:7960	biolink:NamedThing	NR0B1			mondo.json		http://identifiers.org/hgnc/7960		
GO:0003723	biolink:NamedThing	RNA binding	Binding to an RNA molecule or a portion thereof.		mondo.json	base pairing with RNA|poly-A RNA binding|poly(A)-RNA binding|poly(A) RNA binding	http://purl.obolibrary.org/obo/GO_0003723		
CHEBI:88184	biolink:ChemicalSubstance	metal allergen	Any metal which causes the onset of an allergic reaction.		mondo.json	allergenic metals|metal allergens|allergenic metal	http://purl.obolibrary.org/obo/CHEBI_88184		
MONDO:0001811	biolink:Disease	tetanic cataract	A cataract resulting from hypocalcemia.	UMLS:C0039613|SCTID:68216000|DOID:13822|ICD9:366.42|NCIT:C35068	mondo.json	hypocalcaemic cataract	http://purl.obolibrary.org/obo/MONDO_0001811	DOID:13822|http://identifiers.org/snomedct/68216000|NCIT:C35068|UMLS:C0039613	
MONDO:0001810	biolink:Disease	hypoglossal nerve disorder	A disease involving the hypoglossal nerve.	ICD9:352.5|MESH:D020437|DOID:13814|SCTID:24777009|NCIT:C26954|UMLS:C0152181	mondo.json	disorder of the XII nerve|hypoglossal nerve disease|disorder of XII nerve|twelfth nerve disorder|disease or disorder of hypoglossal nerve|disease of hypoglossal nerve|hypoglossal nerve disorder|hypoglossal nerve disease or disorder|disorder of 12th nerve|disorder of hypoglossal [12th] nerve|disorder of hypoglossal nerve	http://purl.obolibrary.org/obo/MONDO_0001810	DOID:13814|NCIT:C26954|http://identifiers.org/mesh/D020437|UMLS:C0152181|http://identifiers.org/snomedct/24777009	
CHEBI:88188	biolink:ChemicalSubstance	drug allergen	Any drug which causes the onset of an allergic reaction.		mondo.json	allergenic drug	http://purl.obolibrary.org/obo/CHEBI_88188		
UBERON:0010410	biolink:AnatomicalEntity	inguinal fat pad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010410		
UBERON:0010411	biolink:AnatomicalEntity	retroperitoneal fat pad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010411		
HGNC:7974	biolink:NamedThing	NR2E3			mondo.json		http://identifiers.org/hgnc/7974		
GO:0015701	biolink:NamedThing	bicarbonate transport	The directed movement of bicarbonate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0015701		
HGNC:7976	biolink:NamedThing	NR2F2			mondo.json		http://identifiers.org/hgnc/7976		
MONDO:0001809	biolink:Disease	adhesions of uterus		ICD9:621.5|UMLS:CN199257|DOID:13812|SCTID:361115000	mondo.json	band of uterus|intrauterine synechiae	http://purl.obolibrary.org/obo/MONDO_0001809	http://identifiers.org/snomedct/361115000|UMLS:CN199257|DOID:13812	
CL:0000771	biolink:Cell	eosinophil	Any of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin. Eosinophils are CD9-positive, CD191-positive, and CD193-positive.	FMA:62861|BTO:0000399|CALOHA:TS-0279	mondo.json	eosinocyte|polymorphonuclear leucocyte|eosinophilic leucocyte|polymorphonuclear leukocyte|eosinophilic granulocyte|eosinophilic leukocyte	http://purl.obolibrary.org/obo/CL_0000771		
UBERON:0010402	biolink:AnatomicalEntity	epidermis suprabasal layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010402		
HGNC:7975	biolink:NamedThing	NR2F1			mondo.json		http://identifiers.org/hgnc/7975		
HGNC:7978	biolink:NamedThing	NR3C1			mondo.json		http://identifiers.org/hgnc/7978		
CL:0000775	biolink:Cell	neutrophil	Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes.	FMA:62860|CALOHA:TS-0688|BTO:0000130	mondo.json	polynuclear neutrophilic leukocyte|neutrocyte|polymorphonuclear leucocyte|neutrophilic leucocyte|PMN|neutrophil leukocyte|polynuclear neutrophilic leucocyte|poly|polymorphonuclear neutrophil|neutrophilic leukocyte|polymorphonuclear leukocyte|neutrophil leucocyte	http://purl.obolibrary.org/obo/CL_0000775		
HGNC:7979	biolink:NamedThing	NR3C2			mondo.json		http://identifiers.org/hgnc/7979		
HGNC:5318	biolink:NamedThing	TNC			mondo.json		http://identifiers.org/hgnc/5318		
MONDO:0001804	biolink:Disease	anterior scleritis		ICD9:379.03|UMLS:C0155353|SCTID:63454000|DOID:13794	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001804	DOID:13794|UMLS:C0155353|http://identifiers.org/snomedct/63454000	
CHEBI:17895	biolink:ChemicalSubstance	L-tyrosine	An optically active form of tyrosine having L-configuration.		mondo.json	Tyrosine|TYROSINE|(-)-alpha-amino-p-hydroxyhydrocinnamic acid|(S)-Tyrosine|4-hydroxy-L-phenylalanine|Tyr|Y|(S)-3-(p-Hydroxyphenyl)alanine|(2S)-2-amino-3-(4-hydroxyphenyl)propanoic acid|(S)-(-)-Tyrosine|(S)-alpha-amino-4-hydroxybenzenepropanoic acid|L-Tyrosin|L-Tyrosine|L-tyrosine|(S)-2-Amino-3-(p-hydroxyphenyl)propionic acid	http://purl.obolibrary.org/obo/CHEBI_17895		
MONDO:0001803	biolink:Disease	myringitis bullosa hemorrhagica	A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection.	DOID:13791|ICD9:384.01|UMLS:C0155461|SCTID:33528003	mondo.json	bullous myringitis	http://purl.obolibrary.org/obo/MONDO_0001803	DOID:13791|UMLS:C0155461|http://identifiers.org/snomedct/33528003	
MONDO:0001802	biolink:Disease	acute tympanitis		DOID:13790|ICD9:384.00|UMLS:C0155460|SCTID:297009	mondo.json	acute myringitis	http://purl.obolibrary.org/obo/MONDO_0001802	http://identifiers.org/snomedct/297009|UMLS:C0155460|DOID:13790	
UBERON:0010409	biolink:AnatomicalEntity	ocular surface region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010409		
MONDO:0001801	biolink:Disease	staphyloma posticum		UMLS:C0155360|SCTID:87819007|DOID:13789|ICD9:379.12	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001801	http://identifiers.org/snomedct/87819007|UMLS:C0155360|DOID:13789	
MONDO:0001808	biolink:Disease	chronic subinvolution of uterus		ICD9:621.1|SCTID:198315005|UMLS:C0156370|DOID:13811	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001808	http://identifiers.org/snomedct/198315005|UMLS:C0156370|DOID:13811	
CHEBI:17891	biolink:ChemicalSubstance	donor	A molecular entity that can transfer ("donate") an electron, a pair of electrons, an atom or a group to another molecular entity.		mondo.json	Donor|Donator|donneur	http://purl.obolibrary.org/obo/CHEBI_17891		
MONDO:0001807	biolink:Disease	obsolete familial combined hyperlipidemia	OBSOLETE. A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma cholesterol and/or triglycerides. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (upstream stimulatory factors) on chromosome 1.	SCTID:238040008|ICD9:272.4|MedDRA:10027763|MESH:D006950|Orphanet:79211|DOID:13809	mondo.json	type IIb hyperlipoproteinemia|mixed hyperlipoproteinemia|mixed hyperlipidemia|mixed hyperlipidaemia|hyperbetalipoproteinemia with prebetalipoproteinemia|combined hyperlipidemia|combined hyperlipoproteinemia|familial multiple lipoprotein-type hyperlipidemia|familial combined hyperlipidemia (disorder) [ambiguous]	http://purl.obolibrary.org/obo/MONDO_0001807	Orphanet:79211|DOID:13809|http://identifiers.org/snomedct/238040008|http://identifiers.org/mesh/D006950	
MONDO:0001806	biolink:Disease	vaginal squamous tumor	A benign or malignant neoplasm that arises from the squamous epithelium of the vagina. Representative examples include condyloma acuminatum, squamous papilloma, and squamous cell carcinoma.	DOID:138|NCIT:C40242|UMLS:C1519931	mondo.json	vaginal squamous tumor|vagina squamous cell neoplasm|vaginal squamous neoplasm	http://purl.obolibrary.org/obo/MONDO_0001806	NCIT:C40242|DOID:138|UMLS:C1519931	
MONDO:0001805	biolink:Disease	female breast central part cancer		UMLS:C0153549|ICD9:174.1|DOID:13799|SCTID:188151006	mondo.json	malignant neoplasm of central part of female breast|malignant neoplasm of central portion of female breast	http://purl.obolibrary.org/obo/MONDO_0001805	http://identifiers.org/snomedct/188151006|DOID:13799|UMLS:C0153549	
HGNC:10606	biolink:NamedThing	SCP2			mondo.json		http://identifiers.org/hgnc/10606		
CL:0000745	biolink:Cell	retina horizontal cell	A neuron that laterally connects other neurons in the inner nuclear layer of the retina.	BTO:0004120	mondo.json	horizontal cell	http://purl.obolibrary.org/obo/CL_0000745		
HGNC:10603	biolink:NamedThing	SCO1			mondo.json		http://identifiers.org/hgnc/10603		
CL:0000746	biolink:Cell	cardiac muscle cell	Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. In mammals, the contractile fiber resembles those of skeletal muscle but are only one third as large in diameter, are richer in sarcoplasm, and contain centrally located instead of peripheral nuclei.	FMA:14067|BTO:0001539|CALOHA:TS-0115	mondo.json	cardiocyte|cardiac muscle fiber|heart muscle cell|cardiac myocyte|cardiomyocyte	http://purl.obolibrary.org/obo/CL_0000746		
HGNC:10604	biolink:NamedThing	SCO2			mondo.json		http://identifiers.org/hgnc/10604		
GO:0062033	biolink:NamedThing	positive regulation of mitotic sister chromatid segregation	Any process that starts or increases the frequency, rate or extent of sister chromatid segregation during mitosis.		mondo.json		http://purl.obolibrary.org/obo/GO_0062033		
UBERON:0010400	biolink:AnatomicalEntity	spleen trabecular vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010400		
CL:0000748	biolink:Cell	retinal bipolar neuron	A bipolar neuron found in the retina and having connections with photoreceptors cells and neurons in the inner plexiform layer.		mondo.json		http://purl.obolibrary.org/obo/CL_0000748		
HGNC:7989	biolink:NamedThing	NRAS			mondo.json		http://identifiers.org/hgnc/7989		
HGNC:5326	biolink:NamedThing	HYMAI			mondo.json		http://identifiers.org/hgnc/5326		
CL:0000740	biolink:Cell	retinal ganglion cell	The set of neurons that receives neural inputs via bipolar, horizontal and amacrine cells. The axons of these cells make up the optic nerve.	BTO:0001800|FMA:67765	mondo.json	RGC|ganglion cell of retina|gangliocyte	http://purl.obolibrary.org/obo/CL_0000740		
HGNC:10610	biolink:NamedThing	CCL11			mondo.json		http://identifiers.org/hgnc/10610		
NCBITaxon:5970	biolink:OrganismalEntity	Exophiala dermatitidis		GC_ID:1	mondo.json	Hormiscium dermatitidis|Wangiella dermatitidis	http://purl.obolibrary.org/obo/NCBITaxon_5970		
CL:4028001	biolink:Cell	pulmonary capillary endothelial cell	Any capillary endothelial cell that is part of a lung.		mondo.json	lung capillary endothelial cell	http://purl.obolibrary.org/obo/CL_4028001		
HGNC:7981	biolink:NamedThing	NR4A2			mondo.json		http://identifiers.org/hgnc/7981		
HGNC:5320	biolink:NamedThing	HYAL1			mondo.json		http://identifiers.org/hgnc/5320		
HGNC:7983	biolink:NamedThing	NR5A1			mondo.json		http://identifiers.org/hgnc/7983		
HGNC:5321	biolink:NamedThing	HYAL2			mondo.json		http://identifiers.org/hgnc/5321		
HGNC:7982	biolink:NamedThing	NR4A3			mondo.json		http://identifiers.org/hgnc/7982		
GO:0003700	biolink:NamedThing	DNA-binding transcription factor activity	A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.		mondo.json	nucleic acid binding transcription factor activity|bacterial-type RNA polymerase transcription factor activity, sequence-specific DNA binding|transcription factor activity|bacterial-type RNA polymerase transcription factor activity, metal ion regulated sequence-specific DNA binding|transcription factor activity, metal ion regulated sequence-specific DNA binding|bacterial-type RNA polymerase transcription enhancer sequence-specific DNA binding transcription factor activity|bacterial-type DNA binding transcription factor activity|transcription factor activity, bacterial-type RNA polymerase proximal promoter sequence-specific DNA binding|sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity|transcription factor activity, bacterial-type RNA polymerase transcription enhancer sequence-specific binding|transcription factor activity, bacterial-type RNA polymerase core promoter proximal region sequence-specific binding|bacterial-type RNA polymerase core promoter proximal region sequence-specific DNA binding transcription factor activity|DNA binding transcription factor activity|metal ion regulated sequence-specific DNA binding transcription factor activity|metal ion regulated sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity|gene-specific transcription factor activity|sequence-specific DNA binding transcription factor activity	http://purl.obolibrary.org/obo/GO_0003700		
CHEBI:30879	biolink:ChemicalSubstance	alcohol	A compound in which a hydroxy group, -OH, is attached to a saturated carbon atom.		mondo.json	an alcohol|alcohols|Alcohol	http://purl.obolibrary.org/obo/CHEBI_30879		
HGNC:10618	biolink:NamedThing	CCL2			mondo.json		http://identifiers.org/hgnc/10618		
GO:0062023	biolink:NamedThing	collagen-containing extracellular matrix	An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0062023		
HGNC:7997	biolink:NamedThing	NRG1			mondo.json		http://identifiers.org/hgnc/7997		
GO:0003707	biolink:NamedThing	nuclear steroid receptor activity	Combining with a steroid hormone and transmitting the signal within the cell to initiate a change in cell activity or function.		mondo.json	steroid hormone receptor activity	http://purl.obolibrary.org/obo/GO_0003707		
HGNC:5330	biolink:NamedThing	IARS1			mondo.json		http://identifiers.org/hgnc/5330		
HGNC:5331	biolink:NamedThing	NOD2			mondo.json		http://identifiers.org/hgnc/5331		
MONDO:0001840	biolink:Disease	obsolete schistosomiasis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001840		
MONDO:0001844	biolink:Disease	uterine corpus myxoid leiomyoma	A morphologic variant of uterine corpus leiomyoma characterized by extensive myxoid degeneration of the neoplasm connective tissue stroma.	NCIT:C40166|DOID:13956|UMLS:C1519860	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001844	DOID:13956|UMLS:C1519860|NCIT:C40166	
MONDO:0001843	biolink:Disease	uterus interstitial leiomyoma		UMLS:C0153994|ICD9:218.1|SCTID:93616000|ICD10CM:D25.1|DOID:13955	mondo.json	intramural leiomyoma of uterus	http://purl.obolibrary.org/obo/MONDO_0001843	DOID:13955|http://purl.bioontology.org/ontology/ICD10CM/D25.1|http://identifiers.org/snomedct/93616000|UMLS:C0153994	
MONDO:0001842	biolink:Disease	uterine corpus dissecting leiomyoma	A rare morphologic variant of uterine corpus leiomyoma. Macroscopically, it is characterized by large, fungating, and multinodular neoplasm masses arising from the uterine corpus, and extending into the broad ligament or the peritoneal cavity. Microscopically, it shows neoplastic smooth muscle cells infiltrating the myometrium. The neoplastic cells are arranged in a micronodular pattern. Hydropic changes and increased vascularity are also present.	DOID:13953|NCIT:C40172|UMLS:C1519847	mondo.json	Cotyledonoid dissecting leiomyoma|Sternberg tumor	http://purl.obolibrary.org/obo/MONDO_0001842	DOID:13953|UMLS:C1519847|NCIT:C40172	
MONDO:0001841	biolink:Disease	uterine corpus epithelioid leiomyoma	A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters.	DOID:13951|UMLS:C1519850|NCIT:C40164	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001841	DOID:13951|UMLS:C1519850|NCIT:C40164	
UBERON:0009471	biolink:AnatomicalEntity	dorsum of tongue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009471		
MONDO:0013826	biolink:Disease	autosomal recessive nonsyndromic hearing loss 86	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.	DOID:0110532|UMLS:C2829265|OMIM:614617	mondo.json	autosomal recessive nonsyndromic deafness 86|autosomal recessive deafness 86|TBC1D24 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 86|deafness, autosomal recessive 86|autosomal recessive nonsyndromic deafness caused by mutation in TBC1D24|deafness, autosomal recessive type 86|DFNB86	http://purl.obolibrary.org/obo/MONDO_0013826	DOID:0110532|https://omim.org/entry/614617|UMLS:C2829265	
MONDO:0013827	biolink:Disease	hyperekplexia 3	Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene.	OMIM:614618|UMLS:C3553288|DOID:0060698	mondo.json	SLC6A5 hereditary hyperekplexia|hyperekplexia 3|HKPX3|hereditary hyperekplexia caused by mutation in SLC6A5|hyperekplexia type 3	http://purl.obolibrary.org/obo/MONDO_0013827	UMLS:C3553288|https://omim.org/entry/614618|DOID:0060698	
CL:0000723	biolink:Cell	somatic stem cell	A stem cell that can give rise to cell types of the body other than those of the germ-line.	CALOHA:TS-2086|FMA:63368	mondo.json		http://purl.obolibrary.org/obo/CL_0000723		
MONDO:0013824	biolink:Disease	Joubert syndrome 17	Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene.	DOID:0110986|UMLS:C3553264|OMIM:614615	mondo.json	Joubert syndrome 17|Joubert syndrome caused by mutation in CPLANE1|JBTS17|CPLANE1 Joubert syndrome|Joubert syndrome type 17	http://purl.obolibrary.org/obo/MONDO_0013824	UMLS:C3553264|DOID:0110986|https://omim.org/entry/614615	
MONDO:0013825	biolink:Disease	congenital diarrhea 6	Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene.	DOID:0060780|OMIM:614616|Orphanet:314373|UMLS:C3553270	mondo.json	congenital diarrhea type 6|DIAR6|diarrhea 6|congenital diarrhea caused by mutation in GUCY2C|GUCY2C congenital diarrhea|diarrhea type 6|chronic diarrhea due to guanylate cyclase 2C overactivity	http://purl.obolibrary.org/obo/MONDO_0013825	Orphanet:314373|UMLS:C3553270|https://omim.org/entry/614616|DOID:0060780	ordo_disease
GO:1904479	biolink:NamedThing	negative regulation of intestinal absorption	Any process that stops, prevents or reduces the frequency, rate or extent of intestinal absorption.		mondo.json	down-regulation of intestinal absorption|down regulation of intestinal absorption|inhibition of intestinal absorption|downregulation of intestinal absorption	http://purl.obolibrary.org/obo/GO_1904479		
NCBITaxon:555280	biolink:OrganismalEntity	Discosea		GC_ID:1	mondo.json	Flabellinea	http://purl.obolibrary.org/obo/NCBITaxon_555280		
GO:0086019	biolink:NamedThing	cell-cell signaling involved in cardiac conduction	Any process that mediates the transfer of information from one cell to another and contributes to the heart process that regulates cardiac muscle contraction; beginning with the generation of an action potential in the sinoatrial node and ending with regulation of contraction of the myocardium.		mondo.json	cell-cell signalling involved in cardiac conduction	http://purl.obolibrary.org/obo/GO_0086019		
GO:1904478	biolink:NamedThing	regulation of intestinal absorption	Any process that modulates the frequency, rate or extent of intestinal absorption.		mondo.json		http://purl.obolibrary.org/obo/GO_1904478		
MONDO:0013828	biolink:Disease	hyperekplexia 2	Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene.	DOID:0060697|OMIM:614619|UMLS:C3553291	mondo.json	hereditary hyperekplexia caused by mutation in GLRB|hyperekplexia 2|GLRB hereditary hyperekplexia|HKPX2|hyperekplexia type 2	http://purl.obolibrary.org/obo/MONDO_0013828	UMLS:C3553291|DOID:0060697|https://omim.org/entry/614619	
MONDO:0013829	biolink:Disease	UV-sensitive syndrome 2	Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene.	OMIM:614621|UMLS:C3553298	mondo.json	ERCC8 UV-sensitive syndrome|UV-sensitive syndrome caused by mutation in ERCC8|UV-sensitive syndrome type 2|UVSS2|UV-sensitive syndrome 2	http://purl.obolibrary.org/obo/MONDO_0013829	UMLS:C3553298|https://omim.org/entry/614621	
HGNC:5344	biolink:NamedThing	ICAM1			mondo.json		http://identifiers.org/hgnc/5344		
MONDO:0013830	biolink:Disease	keratoconus 5		UMLS:C3553302|OMIM:614622	mondo.json	keratoconus 5|KTCN5	http://purl.obolibrary.org/obo/MONDO_0013830	https://omim.org/entry/614622|UMLS:C3553302	
MONDO:0013833	biolink:Disease	keratoconus 7		OMIM:614629|UMLS:C3553308	mondo.json	KTCN7|keratoconus 7	http://purl.obolibrary.org/obo/MONDO_0013833	UMLS:C3553308|https://omim.org/entry/614629	
MONDO:0013834	biolink:Disease	UV-sensitive syndrome 3	Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene.	OMIM:614640|UMLS:C3553328	mondo.json	UV-sensitive syndrome type 3|UV-sensitive syndrome 3|UVSS3|UVSSA UV-sensitive syndrome|UV-sensitive syndrome caused by mutation in UVSSA	http://purl.obolibrary.org/obo/MONDO_0013834	UMLS:C3553328|https://omim.org/entry/614640	
MONDO:0013831	biolink:Disease	keratoconus 6		UMLS:C3553306|OMIM:614623	mondo.json	keratoconus 6|KTCN6	http://purl.obolibrary.org/obo/MONDO_0013831	https://omim.org/entry/614623|UMLS:C3553306	
GO:1904480	biolink:NamedThing	positive regulation of intestinal absorption	Any process that activates or increases the frequency, rate or extent of intestinal absorption.		mondo.json	up-regulation of intestinal absorption|up regulation of intestinal absorption|activation of intestinal absorption|upregulation of intestinal absorption	http://purl.obolibrary.org/obo/GO_1904480		
MONDO:0013832	biolink:Disease	keratoconus 8		OMIM:614628|UMLS:C3553307	mondo.json	KTCN8|keratoconus 8	http://purl.obolibrary.org/obo/MONDO_0013832	UMLS:C3553307|https://omim.org/entry/614628	
MONDO:0001837	biolink:Disease	acute gonococcal salpingitis	Acute form of gonococcal salpingitis.	DOID:13942|SCTID:45377007|UMLS:C0275654|ICD9:098.17	mondo.json	gonococcal salpingitis, specified as acute|gonococcal salpingitis, acute	http://purl.obolibrary.org/obo/MONDO_0001837	DOID:13942|UMLS:C0275654|http://identifiers.org/snomedct/45377007	
UBERON:0009472	biolink:AnatomicalEntity	axilla			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009472		
MONDO:0001836	biolink:Disease	amenorrhea	The absence of menses in a woman who has achieved reproductive age.	MESH:D000568|ICD9:626.0|HP:0000141|UMLS:C0002453|DOID:13938|NCIT:C61443	mondo.json	absence of menstruation|amenia|amenorrhea|amenorrhea (disease)	http://purl.obolibrary.org/obo/MONDO_0001836	http://identifiers.org/mesh/D000568|NCIT:C61443|DOID:13938|UMLS:C0002453	
MONDO:0001835	biolink:Disease	facial paralysis	Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. facial nerve diseases generally results in generalized hemifacial weakness. neuromuscular junction diseases and muscular diseases may also cause facial paralysis or paresis.	DOID:13934|UMLS:C0015469|MESH:D005158|SCTID:280816001	mondo.json	facial palsy|palsy of face|face palsy	http://purl.obolibrary.org/obo/MONDO_0001835	DOID:13934|http://identifiers.org/mesh/D005158|http://identifiers.org/snomedct/280816001|UMLS:C0015469	
MONDO:0001834	biolink:Disease	visual pathway disorder	A disorder of the neural pathway from the optic nerve to the visual cortex.	SCTID:95776004|DOID:1393|UMLS:C0155287|ICD10CM:H47.9|SCTID:54767005|NCIT:C35342	mondo.json	disease or disorder of optic tract|optic tract disorder|disease of optic tract|optic tract disease or disorder|disorder of optic tract|visual pathway disorder|optic tract disease	http://purl.obolibrary.org/obo/MONDO_0001834	UMLS:C0155287|http://identifiers.org/snomedct/54767005|http://purl.bioontology.org/ontology/ICD10CM/H47.9|DOID:1393|NCIT:C35342|http://identifiers.org/snomedct/95776004	
UBERON:0009477	biolink:AnatomicalEntity	associated mesenchyme of otic placode			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009477		
MONDO:0001839	biolink:Disease	obsolete interstitial cystitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001839		
MONDO:0001838	biolink:Disease	acute gonococcal prostatitis	Acute form of gonococcal prostatitis.	UMLS:C0153192|DOID:13943|SCTID:111806005|ICD9:098.12	mondo.json	gonococcal prostatitis, acute|gonococcal prostatitis (acute)|gonococcal prostatitis|acute gonococcal prostatitis	http://purl.obolibrary.org/obo/MONDO_0001838	DOID:13943|UMLS:C0153192|http://identifiers.org/snomedct/111806005	
UBERON:0009479	biolink:AnatomicalEntity	ectoderm of buccopharyngeal membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009479		
MONDO:0001851	biolink:Disease	primary lacrimal atrophy		SCTID:17093002|DOID:1399|UMLS:C0155229|ICD9:375.13	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001851	http://identifiers.org/snomedct/17093002|UMLS:C0155229|DOID:1399	
CHEBI:27207	biolink:ChemicalSubstance	univalent carboacyl group	A univalent carboacyl group is a group formed by loss of OH from the carboxy group of a carboxylic acid.		mondo.json	univalent carboacyl groups|univalent acyl group|univalent carboxylic acyl groups	http://purl.obolibrary.org/obo/CHEBI_27207		
MONDO:0001850	biolink:Disease	female breast lower-outer quadrant cancer		DOID:13972|ICD9:174.5|UMLS:C0153553|SCTID:188155002	mondo.json	malignant neoplasm of lower-outer quadrant of female breast	http://purl.obolibrary.org/obo/MONDO_0001850	UMLS:C0153553|http://identifiers.org/snomedct/188155002|DOID:13972	
MONDO:0001855	biolink:Disease	rubeosis iridis		UMLS:C0154916|ICD9:364.42|SCTID:51995000|DOID:14000	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001855	UMLS:C0154916|DOID:14000|http://identifiers.org/snomedct/51995000	
MONDO:0001854	biolink:Disease	lacrimal apparatus disorder	A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus.	MESH:D007766|NCIT:C26809|ICD9:375.9|DOID:1400|ICD9:375.69|ICD9:375|ICD9:375.89|SCTID:31053003	mondo.json	disease of lacrimal apparatus|disease or disorder of lacrimal apparatus|lachrymal system disorders|lacrimal apparatus disease|lacrimal system disorder|disorder of lacrimal system|lacrimal system disease|lacrimal apparatus disease or disorder|disorder of lacrimal apparatus	http://purl.obolibrary.org/obo/MONDO_0001854	DOID:1400|NCIT:C26809|http://identifiers.org/snomedct/31053003|http://identifiers.org/mesh/D007766	
MONDO:0001853	biolink:Disease	contact blepharoconjunctivitis		ICD9:372.22|SCTID:10813004|UMLS:C0155150|DOID:13999	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001853	UMLS:C0155150|DOID:13999|http://identifiers.org/snomedct/10813004	
MONDO:0001852	biolink:Disease	small intestine lymphoma	A non-Hodgkin or Hodgkin lymphoma that arises from the small intestine.	DOID:13996|UMLS:C0278805|NCIT:C4007|ICD9:202.80|SCTID:449074003	mondo.json	lymphoma of small bowel|small intestinal lymphoma|small bowel lymphoma|small intestine lymphoma|primary small intestinal lymphoma|lymphoma of the small intestine|lymphoma of small intestine|lymphoma of the small bowel	http://purl.obolibrary.org/obo/MONDO_0001852	NCIT:C4007|UMLS:C0278805|DOID:13996|http://identifiers.org/snomedct/449074003	
MONDO:0013815	biolink:Disease	FGFR2-related bent bone dysplasia		UMLS:C3281247|OMIM:614592|GARD:0010965|Orphanet:313855	mondo.json	BBDS|bent bone dysplasia syndrome|bent bone dysplasia (BBD)-FGFR2 type|perinatal lethal bent bone dysplasia	http://purl.obolibrary.org/obo/MONDO_0013815	UMLS:C3281247|https://omim.org/entry/614592|Orphanet:313855	ordo_disease
MONDO:0013816	biolink:Disease	obsolete palmoplantar keratoderma, mutilating, with periorificial keratotic plaques			mondo.json		http://purl.obolibrary.org/obo/MONDO_0013816		
MONDO:0013813	biolink:Disease	dystonia 21	Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.	UMLS:C3281236|Orphanet:306734|OMIM:614588|DOID:0090046	mondo.json	DYT21|dystonia 21|dystonia type 21|primary dystonia, DYT21 type	http://purl.obolibrary.org/obo/MONDO_0013813	DOID:0090046|UMLS:C3281236|https://omim.org/entry/614588|Orphanet:306734	ordo_disease
MONDO:0013814	biolink:Disease	podoconiosis, susceptibility to		OMIM:614590	mondo.json	podoconiosis, susceptibility to|lymphostatic verrucosis, susceptibility to|Nonfilarial elephantiasis of Lower legs, susceptibility to|endemic Nonfilarial elephantiasis, susceptibility to|PDCOS	http://purl.obolibrary.org/obo/MONDO_0013814	https://omim.org/entry/614590	
MONDO:0300000	biolink:Disease	SSR3-CDG	A congenital disorder of glycosylation with a SSR3 deficiency that affects the brain, lungs and gastrointestinal system, and presents with clinical phenotypes such as seizures, intellectual disability, developmental delay, microcephaly and abnormal brain structure.		mondo.json	SSR3 congenital disorder of glycosylation|SSR3 deficiency	http://purl.obolibrary.org/obo/MONDO_0300000		
MONDO:0013819	biolink:Disease	intellectual disability, autosomal dominant 14	Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene.	DOID:0070044|OMIM:614607|UMLS:C3553247	mondo.json	autosomal dominant intellectual disability 14|intellectual disability, autosomal dominant 14|mental retardation, autosomal dominant 14|CSS2|ARID1A Coffin-Siris syndrome|MRD14|Coffin-Siris syndrome caused by mutation in ARID1A|ARID1A-related BAFopathy|COFFIN-SIRIS syndrome 2|autosomal dominant mental retardation 14|mental retardation, autosomal dominant type 14|Coffin-Siris syndrome 2|intellectual disability, autosomal dominant type 14	http://purl.obolibrary.org/obo/MONDO_0013819	UMLS:C3553247|https://omim.org/entry/614607|DOID:0070044	
CL:0000737	biolink:Cell	striated muscle cell	Muscle cell which has as its direct parts myofilaments organized into sarcomeres.	CALOHA:TS-2157|BTO:0002916|FMA:86936	mondo.json		http://purl.obolibrary.org/obo/CL_0000737		
CL:0000738	biolink:Cell	leukocyte	An achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue.	FMA:62852|CALOHA:TS-0549|BTO:0000751	mondo.json	white blood cell|immune cell|leucocyte	http://purl.obolibrary.org/obo/CL_0000738		
MONDO:0013817	biolink:Disease	preeclampsia/eclampsia 5	Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene.	UMLS:C3281288|OMIM:614595	mondo.json	Preeclampsia/eclampsia type 5|preeclampsia/eclampsia 5|PREECLAMPSIA/eclampsia 5|CORIN preeclampsia|Corin preeclampsia|PEE5|preeclampsia caused by mutation in CORIN|preeclampsia caused by mutation in Corin	http://purl.obolibrary.org/obo/MONDO_0013817	UMLS:C3281288|https://omim.org/entry/614595	
MONDO:0013818	biolink:Disease	trichohepatoenteric syndrome 2	Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene.	OMIM:614602|DOID:0111416|UMLS:C3281289	mondo.json	SKIV2L tricho-hepato-enteric syndrome|tricho-hepato-enteric syndrome caused by mutation in SKIV2L|TRICHOHEPATOENTERIC syndrome 2|Trichohepatoenteric syndrome 2|THES2|Trichohepatoenteric syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0013818	DOID:0111416|UMLS:C3281289|https://omim.org/entry/614602	
HGNC:5358	biolink:NamedThing	IRF8			mondo.json		http://identifiers.org/hgnc/5358		
MONDO:0013822	biolink:Disease	acrodysostosis 2 with or without hormone resistance	Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene.	UMLS:C3553250|OMIM:614613	mondo.json	ACRDYS2|PDE4D acrodysostosis|acrodysostosis caused by mutation in PDE4D|acrodysostosis 2 with or without hormone resistance|acrodysostosis 2, with or without hormone resistance	http://purl.obolibrary.org/obo/MONDO_0013822	UMLS:C3553250|https://omim.org/entry/614613	
MONDO:0013823	biolink:Disease	autosomal dominant nonsyndromic hearing loss 4B	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CEACAM16 gene.	DOID:0110574|OMIM:614614|UMLS:C3281297	mondo.json	autosomal dominant nonsyndromic deafness 4B|deafness, autosomal dominant type 4B|autosomal dominant deafness 4B|CEACAM16 autosomal dominant nonsyndromic deafness|DFNA4B|autosomal dominant nonsyndromic deafness type 4B|deafness, autosomal dominant 4B|autosomal dominant nonsyndromic deafness caused by mutation in CEACAM16|deafness, autosomal dominant 4b	http://purl.obolibrary.org/obo/MONDO_0013823	DOID:0110574|UMLS:C3281297|https://omim.org/entry/614614	
HGNC:10602	biolink:NamedThing	SCNN1G			mondo.json		http://identifiers.org/hgnc/10602		
MONDO:0013820	biolink:Disease	intellectual disability, autosomal dominant 15	Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene.	OMIM:614608|UMLS:C3553248|DOID:0070045	mondo.json	autosomal dominant mental retardation 15|SMARCB1 Coffin-Siris syndrome|mental retardation, autosomal dominant type 15|intellectual disability, autosomal dominant type 15|SMARCB1-related BAFopathy|Coffin-Siris syndrome caused by mutation in SMARCB1|autosomal dominant intellectual disability 15|mental retardation, autosomal dominant 15|CSS3|intellectual disability, autosomal dominant 15|MRD15|COFFIN-SIRIS syndrome 3	http://purl.obolibrary.org/obo/MONDO_0013820	UMLS:C3553248|https://omim.org/entry/614608|DOID:0070045	
MONDO:0013821	biolink:Disease	intellectual disability, autosomal dominant 16	Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene.	OMIM:614609|UMLS:C3553249|DOID:0070046	mondo.json	mental retardation, autosomal dominant type 16|Coffin-Siris syndrome caused by mutation in SMARCA4|SMARCA4-related BAFopathy|intellectual disability, autosomal dominant type 16|mental retardation, autosomal dominant 16|MRD16|autosomal dominant intellectual disability 16|CSS4|intellectual disability, autosomal dominant 16|COFFIN-SIRIS syndrome 4|SMARCA4 Coffin-Siris syndrome|autosomal dominant mental retardation 16	http://purl.obolibrary.org/obo/MONDO_0013821	UMLS:C3553249|https://omim.org/entry/614609|DOID:0070046	
CL:0000731	biolink:Cell	urothelial cell	A cell of a layer of transitional epithelium in the wall of the bladder, ureter, and renal pelvis, external to the lamina propria.	FMA:84127	mondo.json	transitional epithelial cell of urinary bladder|bladder transitional cell|urinary tract transitional epithelial cell	http://purl.obolibrary.org/obo/CL_0000731		
HGNC:10600	biolink:NamedThing	SCNN1B			mondo.json		http://identifiers.org/hgnc/10600		
MONDO:0001848	biolink:Disease	Morgagni cataract	A form of hypermature cataract formed by liquefaction of the cortex and sinking of the dense nucleus to the bottom of the capsular bag.	SCTID:264443002|DOID:13964|UMLS:C0152258|ICD9:366.18	mondo.json	Morgagnian cataract|hypermature cataract	http://purl.obolibrary.org/obo/MONDO_0001848	http://identifiers.org/snomedct/264443002|DOID:13964|UMLS:C0152258	
MONDO:0001847	biolink:Disease	nuclear senile cataract	A senile cataract that involves the lens nucleus.	SCTID:193589009|DOID:13963|ICD9:366.16	mondo.json	Senile nuclear sclerosis|lens nucleus senile cataract|Senile nuclear cataract|senile cataract of lens nucleus	http://purl.obolibrary.org/obo/MONDO_0001847	http://identifiers.org/snomedct/193589009|DOID:13963	
CHEBI:6067	biolink:ChemicalSubstance	isotretinoin	A retinoic acid that is all-trans-retinoic acid in which the double bond which is alpha,beta- to the carboxy group is isomerised to Z configuration. A synthetic retinoid, it is used for the treatment of severe cases of acne and other skin diseases.		mondo.json	isotretinoinum|13-cis-Vitamin A acid|isotretinoina|Neovitamin A acid|isotretinoino|cis-RA|13-cis-retinoic acid|(7E,9E,11E,13Z)-retinoic acid|isotretinoin|13-RA|(2Z,4E6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid|Amnesteem|Claravis|Accutane|isotretinoine	http://purl.obolibrary.org/obo/CHEBI_6067		
MONDO:0001846	biolink:Disease	uterine corpus bizarre leiomyoma	A morphologic variant of uterine corpus leiomyoma characterized by significant cytologic atypia. The atypical cells are large with pleomophic hyperchromatic nuclei.	NCIT:C40167|UMLS:C1519853|DOID:13958	mondo.json	bizarre leiomyoma of body of uterus|uterine corpus leiomyoma, atypical variant|uterine corpus bizarre leiomyoma|body of uterus bizarre leiomyoma|uterine corpus leiomyoma with bizarre nuclei|uterine corpus Symplastic leiomyoma	http://purl.obolibrary.org/obo/MONDO_0001846	DOID:13958|UMLS:C1519853|NCIT:C40167	
MONDO:0001845	biolink:Disease	uterine corpus lipoleiomyoma	A rare morphologic variant of uterine corpus leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm.	EFO:1000614|UMLS:C1519856|DOID:13957|NCIT:C40168	mondo.json	uterine corpus lipomatous leiomyoma	http://purl.obolibrary.org/obo/MONDO_0001845	DOID:13957|UMLS:C1519856|NCIT:C40168	
HGNC:5351	biolink:NamedThing	ICOS			mondo.json		http://identifiers.org/hgnc/5351		
MONDO:0001849	biolink:Disease	chronic orbital inflammation		DOID:1397|SCTID:44729001|ICD9:376.10|ICD9:376.1|UMLS:C0155261	mondo.json	chronic inflammation of orbit	http://purl.obolibrary.org/obo/MONDO_0001849	UMLS:C0155261|DOID:1397|http://identifiers.org/snomedct/44729001	
MONDO:0001822	biolink:Disease	hypolipoproteinemia	Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins).	DOID:1387|GARD:0008394|HP:0010981|MESH:D007009|SCTID:363140000|ICD9:272.5	mondo.json	hypolipoproteinemia|hypolipoproteinemia (disease)|lipoprotein deficiencies|hypolipoproteinaemia	http://purl.obolibrary.org/obo/MONDO_0001822	http://identifiers.org/mesh/D007009|DOID:1387|http://identifiers.org/snomedct/363140000	
MONDO:0001821	biolink:Disease	hypoactive sexual desire disorder	A disorder characterized by a recurrent or persistent lack of desire for sexual activity. The lack of sexual desire is not attributable to another psychiatric disorder or to the physiological effects of substance use or a general medical condition.	DOID:13868|ICD10CM:F52.0|SCTID:270903007|ICD9:302.71|NCIT:C94337	mondo.json	lack or loss of sexual desire	http://purl.obolibrary.org/obo/MONDO_0001821	DOID:13868|http://purl.bioontology.org/ontology/ICD10CM/F52.0|NCIT:C94337|http://identifiers.org/snomedct/270903007	
MONDO:0001820	biolink:Disease	focal labyrinthitis	A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma.	UMLS:C0155505|DOID:13867|ICD9:386.32|SCTID:61794006	mondo.json	circumscribed labyrinthitis	http://purl.obolibrary.org/obo/MONDO_0001820	DOID:13867|UMLS:C0155505|http://identifiers.org/snomedct/61794006	
OIO:hasDbXref	biolink:NamedThing	database_cross_reference			mondo.json		http://www.geneontology.org/formats/oboInOwl#hasDbXref		
MONDO:0013804	biolink:Disease	obsolete intellectual disability, autosomal dominant 12			mondo.json		http://purl.obolibrary.org/obo/MONDO_0013804		
MONDO:0013805	biolink:Disease	intellectual disability, autosomal dominant 13	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene.	OMIM:614563|DOID:0070043|UMLS:C3281202	mondo.json	autosomal dominant intellectual disability 13|MRD13|intellectual disability, autosomal dominant type 13|autosomal dominant non-syndromic intellectual disability 13|mental retardation, autosomal dominant type 13|intellectual disability, autosomal dominant 13|DYNC1H1 autosomal dominant non-syndromic intellectual disability|autosomal dominant mental retardation 13|intellectual disability, autosomal dominant, 13, with neuronal migration defects|mental retardation, autosomal dominant 13, with neuronal migration defects|autosomal dominant non-syndromic intellectual disability caused by mutation in DYNC1H1|mental retardation, autosomal dominant 13|mental retardation, autosomal dominant, 13, with neuronal migration defects|intellectual disability, autosomal dominant 13, with neuronal migration defects	http://purl.obolibrary.org/obo/MONDO_0013805	UMLS:C3281202|https://omim.org/entry/614563|DOID:0070043	
MONDO:0013802	biolink:Disease	infantile cerebellar-retinal degeneration	Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms.	DOID:0050883|GARD:0013264|UMLS:C3281192|OMIM:614559|Orphanet:313850	mondo.json	infantile cerebellar-retinal degeneration|infantile cerebellar retinal degeneration|ICRD	http://purl.obolibrary.org/obo/MONDO_0013802	DOID:0050883|UMLS:C3281192|https://omim.org/entry/614559|Orphanet:313850	ordo_disease|gard_rare
MONDO:0013803	biolink:Disease	leukoencephalopathy with calcifications and cysts		Orphanet:542310|UMLS:C3281200|OMIM:614561|MESH:C000598644	mondo.json	LCC|leukoencephalopathy, brain calcifications, and cysts|Labrune syndrome	http://purl.obolibrary.org/obo/MONDO_0013803	Orphanet:542310|UMLS:C3281200|https://omim.org/entry/614561|http://identifiers.org/mesh/C000598644	ordo_disease
MONDO:0013808	biolink:Disease	Maffucci syndrome	Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.	OMIM:166000|Orphanet:163634|GARD:0006958|OMIM:614569|DOID:0060221|SCTID:46041001|NCIT:C3213|UMLS:C0024454	mondo.json	Maffucci syndrome|Chondroplasia angiomatosis|Kast syndrome|chondrodysplasia with hemangioma|enchondromatosis with hemangiomata|Maffucci's anomalad|enchondromatosis with multiple cavernous hemangiomas|Dyschondroplasia and cavernous hemangioma|multiple enchondromatosis, Maffucci type|Maffucci type enchondromatosis|hemangiomata with Dyschondroplasia|hemangiomatosis Chondrodystrophica|multiple Angiomas and Endochondromas|Dyschondrodysplasia with hemangiomas	http://purl.obolibrary.org/obo/MONDO_0013808	Orphanet:163634|UMLS:C0024454|DOID:0060221|https://omim.org/entry/614569|NCIT:C3213|http://identifiers.org/snomedct/46041001	ordo_disease|gard_rare
CL:0000703	biolink:Cell	sustentacular cell	Cell that provides some or all mechanical, nutritional and phagocytic support to their neighbors.	BTO:0002315	mondo.json		http://purl.obolibrary.org/obo/CL_0000703		
NCBITaxon:64895	biolink:OrganismalEntity	Borreliella		PMID:24744012|PMID:10758897|PMID:27930271|PMID:31836459|PMID:31722850|GC_ID:11|PMID:32320380|PMID:31454394|PMID:10515907|PMID:7981102|PMID:8934900|PMID:16585709|PMID:8995795|PMID:30586413|PMID:30154058|PMID:8573491|PMID:28141502|PMID:9336916	mondo.json	Lyme Disease Borrelia|Borrelia burgdorferi sensu lato|Borrelia burgdorferi group	http://purl.obolibrary.org/obo/NCBITaxon_64895		
MONDO:0013809	biolink:Disease	obsolete cerebellar ataxia, neuropathy, and vestibular areflexia syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0013809		
MONDO:0013806	biolink:Disease	familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome		Orphanet:313846|OMIM:614564|UMLS:C3281203	mondo.json	cutaneous telangiectasia and cancer syndrome, familial|familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome|FCTCS|familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome|telangiectasia, cutaneous, and cancer syndrome, familial	http://purl.obolibrary.org/obo/MONDO_0013806	UMLS:C3281203|https://omim.org/entry/614564|Orphanet:313846	ordo_disease
MONDO:0013807	biolink:Disease	congenital stationary night blindness 1E	Any congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene.	OMIM:614565|DOID:0110869|UMLS:C3281215	mondo.json	congenital stationary night blindness type 1E|night blindness, congenital stationary, type 1E|congenital stationary night blindness 1E|night blindness, congenital stationary (complete), 1E, autosomal recessive|CSNB1E|congenital stationary night blindness caused by mutation in GPR179|GPR179 congenital stationary night blindness|congenital stationary night blindness 1E autosomal recessive|Csnb, complete, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0013807	UMLS:C3281215|DOID:0110869|https://omim.org/entry/614565	
CL:0000706	biolink:Cell	choroid plexus epithelial cell	Specialized ependymal cell that produces the cerebrospinal fluid from the blood and secretes it into the lumen of the brain and spinal chord.	FMA:70549	mondo.json	epithelial cell of choroid plexus	http://purl.obolibrary.org/obo/CL_0000706		
CHR:9606-chr16p13.1	biolink:NamedThing	16p13.1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr16p13.1		
MONDO:0013811	biolink:Disease	combined oxidative phosphorylation defect type 9	Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.	UMLS:C3281234|OMIM:614582|DOID:0111472|Orphanet:319509|SCTID:763209008	mondo.json	combined oxidative phosphorylation deficiency 9|MRPL3 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in MRPL3|combined oxidative phosphorylation deficiency type 9|COXPD9	http://purl.obolibrary.org/obo/MONDO_0013811	DOID:0111472|UMLS:C3281234|http://identifiers.org/snomedct/763209008|https://omim.org/entry/614582|Orphanet:319509	ordo_disease
CHR:9606-chr16p13.2	biolink:NamedThing	16p13.2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr16p13.2		
CHR:9606-chr16p13.3	biolink:NamedThing	16p13.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr16p13.3		
MONDO:0013812	biolink:Disease	Baraitser-winter syndrome 2	Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene.	UMLS:C3281235|OMIM:614583	mondo.json	Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTG1|Baraitser-Winter syndrome type 2|BRWS2|Baraitser-WINTER syndrome 2|Baraitser-winter syndrome 2|ACTG1 Baraitser-Winter cerebrofrontofacial syndrome	http://purl.obolibrary.org/obo/MONDO_0013812	UMLS:C3281235|https://omim.org/entry/614583	
MONDO:0013810	biolink:Disease	COG6-ongenital disorder of glycosylation		Orphanet:464443|OMIM:614576|DOID:0070264|UMLS:C3553230|GARD:0010944	mondo.json	CDG IIL|COG6-congenital disorder of glycosylation|congenital disorder of glycosylation type IIL|CDG syndrome type IIL|congenital disorder of glycosylation type 2l|congenital disorder of glycosylation, type IIL|CDGIIl|CDG-IIL|COG6-CDG (CDG-IIL)|COG6-CDG|CDG2L	http://purl.obolibrary.org/obo/MONDO_0013810	Orphanet:464443|UMLS:C3553230|https://omim.org/entry/614576|DOID:0070264	ordo_disease
MONDO:0001815	biolink:Disease	extrapyramidal and movement disease		DOID:13839|ICD10CM:G20-G26|UMLS:C0477355|ICD9:333.90	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001815	UMLS:C0477355|http://purl.bioontology.org/ontology/ICD10CM/G20-G26|DOID:13839	
MONDO:0001814	biolink:Disease	obsolete patent ductus arteriosus			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001814		
MONDO:0001813	biolink:Disease	squamous blepharitis		ICD9:373.02|DOID:13825|SCTID:58912008|UMLS:C0155174|MEDGEN:509829	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001813	UMLS:C0155174|DOID:13825|http://identifiers.org/snomedct/58912008	
CHEBI:17883	biolink:ChemicalSubstance	hydrogen chloride	A mononuclear parent hydride consisting of covalently bonded hydrogen and chlorine atoms.		mondo.json	chlorane|HCl|chlorure d'hydrogene|Hydrochloride|chloridohydrogen|Wasserstoffchlorid|Chlorwasserstoff|cloruro de hidrogeno|hydrochloric acid|[HCl]|Hydrogen chloride|Hydrogenchlorid|hydrogen chloride	http://purl.obolibrary.org/obo/CHEBI_17883		
MONDO:0001812	biolink:Disease	parasitic eyelid infestation		UMLS:C0155183|DOID:13823|SCTID:193922006|ICD9:373.6	mondo.json	parasitic infestation of eyelid|parasitic eyelid infestation	http://purl.obolibrary.org/obo/MONDO_0001812	UMLS:C0155183|DOID:13823|http://identifiers.org/snomedct/193922006	
MONDO:0001819	biolink:Disease	multiple cranial nerve palsy		ICD9:352.6|SCTID:78152008|DOID:13866|UMLS:C0154733	mondo.json	multiple cranial nerve palsies	http://purl.obolibrary.org/obo/MONDO_0001819	http://identifiers.org/snomedct/78152008|DOID:13866|UMLS:C0154733	
MONDO:0001818	biolink:Disease	facial neuralgia	Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions.	ICD9:351.8|SCTID:4151000119102|MESH:D005156|DOID:13865	mondo.json	neuralgia of facial nerve|facial nerve neuralgia	http://purl.obolibrary.org/obo/MONDO_0001818	http://identifiers.org/snomedct/4151000119102|DOID:13865|http://identifiers.org/mesh/D005156	
MONDO:0001817	biolink:Disease	acute closed-angle glaucoma	Acute form of angle-closure glaucoma.	ICD9:365.22|UMLS:C0154946|DOID:13862|SCTID:30041005	mondo.json	acute angle-closure glaucoma|angle-closure glaucoma, acute	http://purl.obolibrary.org/obo/MONDO_0001817	http://identifiers.org/snomedct/30041005|DOID:13862|UMLS:C0154946	
MONDO:0001816	biolink:Disease	scleroperikeratitis		SCTID:42574005|UMLS:C0155355|DOID:13861|ICD9:379.05	mondo.json	scleritis with corneal involvement	http://purl.obolibrary.org/obo/MONDO_0001816	http://identifiers.org/snomedct/42574005|DOID:13861|UMLS:C0155355	
MONDO:0001833	biolink:Disease	lacrimal duct obstruction	Blockage of the tear duct.	MESH:D007767|SCTID:416920000|DOID:13929	mondo.json	obstruction of lacrimal canaliculus|blocked lacrimal canaliculus|obstruction of lacrimal ducts	http://purl.obolibrary.org/obo/MONDO_0001833	http://identifiers.org/mesh/D007767|DOID:13929|http://identifiers.org/snomedct/416920000	
MONDO:0001832	biolink:Disease	bacterial esophagitis	An acute bacterial infection that affects the esophagus. Symptoms include severe pain on swallowing and retrosternal pain. Endoscopic examination reveals esophageal mucosal ulcerations and pseudomembranous formations.	DOID:13921|UMLS:C0341108|NCIT:C27106|SCTID:235601001	mondo.json	bacterial esophagitis	http://purl.obolibrary.org/obo/MONDO_0001832	http://identifiers.org/snomedct/235601001|UMLS:C0341108|NCIT:C27106|DOID:13921	
MONDO:0001831	biolink:Disease	irregular astigmatism		UMLS:C0152194|SCTID:47099006|DOID:13919|ICD9:367.22	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001831	http://identifiers.org/snomedct/47099006|DOID:13919|UMLS:C0152194	
MONDO:0001830	biolink:Disease	somatization disorder	Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by a another medical condition, by the direct effects of a substance, or by another mental disorder. The symptoms must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to factitious disorders and malingering, the physical symptoms are not under voluntary control. (apa, dsm-V)	ICD10CM:F45.0|DOID:13918|SCTID:397923000|ICD9:300.81	mondo.json	Polysomatising disorder|Somatisation disorder|Briquet's disorder	http://purl.obolibrary.org/obo/MONDO_0001830	DOID:13918|http://purl.bioontology.org/ontology/ICD10CM/F45.0|http://identifiers.org/snomedct/397923000	
CL:0000710	biolink:Cell	neurecto-epithelial cell	Epithelial cells derived from neural plate and neural crest.	BTO:0004301|FMA:70557	mondo.json	neuroepithelial cell	http://purl.obolibrary.org/obo/CL_0000710		
CL:0000712	biolink:Cell	stratum granulosum cell			mondo.json		http://purl.obolibrary.org/obo/CL_0000712		
UBERON:0010425	biolink:AnatomicalEntity	internal naris			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010425		
UBERON:0010426	biolink:AnatomicalEntity	oropharyngeal choana			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010426		
UBERON:0010424	biolink:AnatomicalEntity	distal segment of rib			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010424		
MONDO:0013800	biolink:Disease	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.	OMIM:614557|UMLS:C3281160|Orphanet:300179|SCTID:720859009	mondo.json	Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|Ehlers-Danlos syndrome, kyphoscoliotic and deafness type|EDS, kyphoscoliotic and hearing loss type|EDSKMH|Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type|Ehlers-Danlos syndrome, kyphoscoliotic type, 2|EDSKSCL2|EDS with progressive kyphoscoliosis, myopathy, and hearing loss|EDS with progressive kyphoscoliosis, myopathy, and deafness	http://purl.obolibrary.org/obo/MONDO_0013800	UMLS:C3281160|Orphanet:300179|https://omim.org/entry/614557|http://identifiers.org/snomedct/720859009	ordo_disease
MONDO:0013801	biolink:Disease	developmental and epileptic encephalopathy, 13	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene.	OMIM:614558|SCTID:765170001|UMLS:C3281191|GARD:0013085|DOID:0080445	mondo.json	developmental and epileptic encephalopathy 13|early infantile epileptic encephalopathy caused by mutation in SCN8A|SCN8A encephalopathy|epileptic encephalopathy, early infantile, 13|SCN8A epilepsy|DEE13|epileptic encephalopathy, early infantile, type 13|early infantile epileptic encephalopathy-13|EIEE13|SCN8A early infantile epileptic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0013801	DOID:0080445|http://identifiers.org/snomedct/765170001|UMLS:C3281191|https://omim.org/entry/614558	
UBERON:0010427	biolink:AnatomicalEntity	ciliary processes			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010427		
UBERON:0010428	biolink:AnatomicalEntity	flat bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010428		
MONDO:0001826	biolink:Disease	obsolete hypobetalipoproteinemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001826		
MONDO:0001825	biolink:Disease	squamous papilloma	A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva.	EFO:1001970|ICDO:8052/0|DOID:139|NCIT:C3712|UMLS:C0205874	mondo.json	epidermoid cell papilloma|epidermoid papilloma|papilloma, squamous cell, benign|keratotic papilloma|squamous papilloma|squamous cell papilloma|squamous cell papilloma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0001825	UMLS:C0205874|NCIT:C3712|DOID:139	
MONDO:0001824	biolink:Disease	polyneuropathy	A disease or disorder affecting more than one nerve.	DOID:1389|UMLS:C0152025|MESH:D011115|ICD9:356.9|NCIT:C26951|SCTID:42345000|ICD9:357.4	mondo.json	polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0001824	http://identifiers.org/snomedct/42345000|http://identifiers.org/mesh/D011115|DOID:1389|UMLS:C0152025|NCIT:C26951	
MONDO:0001823	biolink:Disease	sick sinus syndrome	A constellation of signs and symptoms which may include syncope, fatigue, dizziness, and alternating periods of bradycardia and atrial tachycardia, which is caused by sinoatrial node dysfunction.	MESH:D012804|DOID:13884|ICD10CM:I49.5|NCIT:C62244|SCTID:36083008	mondo.json	SSS|sinus node infection	http://purl.obolibrary.org/obo/MONDO_0001823	NCIT:C62244|http://identifiers.org/mesh/D012804|http://identifiers.org/snomedct/36083008|DOID:13884|http://purl.bioontology.org/ontology/ICD10CM/I49.5	
MONDO:0001829	biolink:Disease	lumbosacral plexus lesion	A nerve plexus disease that involves the lumbosacral nerve plexus.	SCTID:4062006|UMLS:C0154735|DOID:13913|ICD9:353.1	mondo.json	nerve plexus disease of lumbosacral nerve plexus|lumbosacral plexus lesions|lumbosacral nerve plexus nerve plexus disease	http://purl.obolibrary.org/obo/MONDO_0001829	http://identifiers.org/snomedct/4062006|DOID:13913|UMLS:C0154735	
MONDO:0001828	biolink:Disease	acquired color blindness	Non-heritable difficulty in distinguishing colors.	DOID:13912|ICD9:368.55|ICD10CM:H53.52|NCIT:C118712|SCTID:71676008	mondo.json	acquired color vision deficiency|acquired color vision deficiencies|acquired color vision disorder	http://purl.obolibrary.org/obo/MONDO_0001828	NCIT:C118712|DOID:13912|http://purl.bioontology.org/ontology/ICD10CM/H53.52|http://identifiers.org/snomedct/71676008	
MONDO:0001827	biolink:Disease	white piedra	A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts.	UMLS:C0040249|ICD10CM:B36.2|DOID:13902|ICD9:111.2|SCTID:35586003	mondo.json	Tinea blanca	http://purl.obolibrary.org/obo/MONDO_0001827	UMLS:C0040249|DOID:13902|http://purl.bioontology.org/ontology/ICD10CM/B36.2|http://identifiers.org/snomedct/35586003	
GO:0003677	biolink:NamedThing	DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).		mondo.json	structure specific DNA binding|plasmid binding|structure-specific DNA binding|microtubule/chromatin interaction	http://purl.obolibrary.org/obo/GO_0003677		
GO:0001018	biolink:NamedThing	mitochondrial promoter sequence-specific DNA binding	Binding to a DNA region that controls the transcription of the mitochondrial DNA.		mondo.json	mitochondrial RNA polymerase core promoter sequence-specific DNA binding|HSP non-coding strand binding|HSP coding strand binding|HSPs binding|mitochondrial RNA polymerase regulatory region DNA binding|mitochondrial proximal promoter sequence-specific DNA binding|mitochondrial RNA polymerase core promoter proximal region sequence-specific DNA binding|mitochondrial heavy strand promoter sense binding|mitochondrial RNA polymerase regulatory region sequence-specific DNA binding|LSPas binding|mitochondrial light strand promoter sense binding|LSPs binding|HSPas binding|mitochondrial light strand promoter anti-sense binding|LSP coding strand binding|LSP non-coding strand binding|mitochondrial heavy strand promoter anti-sense binding	http://purl.obolibrary.org/obo/GO_0001018		
GO:0003674	biolink:NamedThing	molecular_function	A molecular process that can be carried out by the action of a single macromolecular machine, usually via direct physical interactions with other molecular entities. Function in this sense denotes an action, or activity, that a gene product (or a complex) performs. These actions are described from two distinct but related perspectives: (1) biochemical activity, and (2) role as a component in a larger system/process.		mondo.json	molecular function	http://purl.obolibrary.org/obo/GO_0003674		
GO:0001012	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0001012		
GO:0003676	biolink:NamedThing	nucleic acid binding	Binding to a nucleic acid.		mondo.json	base pairing	http://purl.obolibrary.org/obo/GO_0003676		
RO:0010002	biolink:NamedThing	is carrier of	*b* is carrier of *c* at time *t* if and only if *c* *g-depends on* *b* at *t*		mondo.json		http://purl.obolibrary.org/obo/RO_0010002		
RO:0010001	biolink:NamedThing	generically depends on	A generically dependent continuant *b* generically depends on an independent continuant *c* at time *t* means: there inheres in *c* a specifically deendent continuant which concretizes *b* at *t*.		mondo.json	g-depends on	http://purl.obolibrary.org/obo/RO_0010001		
OIO:consider	biolink:NamedThing	consider			mondo.json		http://www.geneontology.org/formats/oboInOwl#consider		
GO:0015669	biolink:NamedThing	gas transport	The directed movement of substances that are gaseous in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0015669		
NCBITaxon:356	biolink:OrganismalEntity	Hyphomicrobiales		GC_ID:11|PMID:1854635	mondo.json	alpha-2 proteobacteria|Rhizobiales|Rhizobiaceae group|rhizobacteria	http://purl.obolibrary.org/obo/NCBITaxon_356		
CHEBI:27177	biolink:ChemicalSubstance	L-tyrosine derivative	A proteinogenic amino acid derivative resulting from reaction of L-tyrosine at the amino group or the carboxy group, or from the replacement of any hydrogen of L-tyrosine by a heteroatom.		mondo.json	L-tyrosine derivatives	http://purl.obolibrary.org/obo/CHEBI_27177		
NCBITaxon:2560080	biolink:OrganismalEntity	Rubulavirinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2560080		
GO:0001001	biolink:NamedThing	mitochondrial single-subunit type RNA polymerase binding	Binding to a single subunit mitochondrial RNA polymerase enzyme, which is composed of a single catalytic subunit similar to the RNA polymerase enzymes from phages T3, T7, and SP6.		mondo.json		http://purl.obolibrary.org/obo/GO_0001001		
NCBITaxon:3398	biolink:OrganismalEntity	Magnoliopsida		GC_ID:1|PMID:25249442	mondo.json	angiosperms|Angiospermae|Magnoliophyta|flowering plants|flowering plants	http://purl.obolibrary.org/obo/NCBITaxon_3398		
HGNC:7905	biolink:NamedThing	NPHP1			mondo.json		http://identifiers.org/hgnc/7905		
HGNC:7907	biolink:NamedThing	NPHP3			mondo.json		http://identifiers.org/hgnc/7907		
HP:0012393	biolink:PhenotypicFeature	Allergy	An allergy is an immune response or reaction to substances that are usually not harmful.	MSH:D006967|SNOMEDCT_US:419076005|UMLS:C1527304	mondo.json	Allergy	http://purl.obolibrary.org/obo/HP_0012393		
HGNC:7908	biolink:NamedThing	NPHS1			mondo.json		http://identifiers.org/hgnc/7908		
NCBITaxon:2560066	biolink:OrganismalEntity	Matonaviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2560066		
NCBITaxon:2560069	biolink:OrganismalEntity	Avulavirinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2560069		
NCBITaxon:2560076	biolink:OrganismalEntity	Orthoparamyxovirinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2560076		
GO:1904409	biolink:NamedThing	regulation of secretory granule organization	Any process that modulates the frequency, rate or extent of secretory granule organization.		mondo.json	regulation of secretory granule organisation|regulation of secretory granule organization and biogenesis	http://purl.obolibrary.org/obo/GO_1904409		
GO:0015629	biolink:NamedThing	actin cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.		mondo.json		http://purl.obolibrary.org/obo/GO_0015629		
UBERON:0009503	biolink:AnatomicalEntity	mesenchyme of hindgut			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009503		
CHEBI:27171	biolink:ChemicalSubstance	organic heterobicyclic compound			mondo.json	heterobicyclic compounds|organic heterobicyclic compounds	http://purl.obolibrary.org/obo/CHEBI_27171		
UBERON:0009504	biolink:AnatomicalEntity	mesenchyme of main bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009504		
UBERON:0009505	biolink:AnatomicalEntity	mesenchyme of trachea			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009505		
UBERON:0009506	biolink:AnatomicalEntity	mesenchyme of middle ear			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009506		
CHEBI:39144	biolink:ChemicalSubstance	Lewis base	A molecular entity able to provide a pair of electrons and thus capable of forming a covalent bond with an electron-pair acceptor (Lewis acid), thereby producing a Lewis adduct.		mondo.json	base de Lewis|electron donor|Lewis-Base|Lewis base|donneur d'une paire d'electrons	http://purl.obolibrary.org/obo/CHEBI_39144		
CHEBI:39142	biolink:ChemicalSubstance	Bronsted base	A molecular entity capable of accepting a hydron from a donor (Bronsted acid).		mondo.json	Bronsted base|accepteur d'hydron|base de Bronsted|Bronsted-Base|hydron acceptor	http://purl.obolibrary.org/obo/CHEBI_39142		
CHEBI:39141	biolink:ChemicalSubstance	Bronsted acid	A molecular entity capable of donating a hydron to an acceptor (Bronsted base).		mondo.json	acide de Bronsted|hydron donor|Bronsted acid|Bronsted-Saeure|donneur d'hydron	http://purl.obolibrary.org/obo/CHEBI_39141		
NCBITaxon:2560074	biolink:OrganismalEntity	Mammantavirinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2560074		
UBERON:0009500	biolink:AnatomicalEntity	periotic mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009500		
UBERON:0009501	biolink:AnatomicalEntity	mesenchyme of fronto-nasal process			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009501		
CL:0000787	biolink:Cell	memory B cell	A memory B cell is a mature B cell that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin. This cell type has the phenotype CD19-positive, CD20-positive, MHC Class II-positive, and CD138-negative.		mondo.json	memory B lymphocyte|memory B-lymphocyte|memory B-cell	http://purl.obolibrary.org/obo/CL_0000787		
CL:0000788	biolink:Cell	naive B cell	A naive B cell is a mature B cell that has the phenotype surface IgD-positive, surface IgM-positive, CD20-positive, CD27-negative and that has not yet been activated by antigen in the periphery.		mondo.json	naive B-cell|naive B lymphocyte|naive B-lymphocyte	http://purl.obolibrary.org/obo/CL_0000788		
CL:0000789	biolink:Cell	alpha-beta T cell	A T cell that expresses an alpha-beta T cell receptor complex.		mondo.json	alpha-beta T lymphocyte|alpha-beta T-lymphocyte|alpha-beta T-cell	http://purl.obolibrary.org/obo/CL_0000789		
HGNC:7939	biolink:NamedThing	NPPA			mondo.json		http://identifiers.org/hgnc/7939		
GO:1904411	biolink:NamedThing	positive regulation of secretory granule organization	Any process that activates or increases the frequency, rate or extent of secretory granule organization.		mondo.json	activation of secretory granule organisation|upregulation of secretory granule organization and biogenesis|up regulation of secretory granule organization|activation of secretory granule organization and biogenesis|upregulation of secretory granule organisation|up-regulation of secretory granule organization|activation of secretory granule organization|positive regulation of secretory granule organisation|up-regulation of secretory granule organization and biogenesis|up regulation of secretory granule organisation|up regulation of secretory granule organization and biogenesis|upregulation of secretory granule organization|up-regulation of secretory granule organisation|positive regulation of secretory granule organization and biogenesis	http://purl.obolibrary.org/obo/GO_1904411		
CHEBI:29793	biolink:ChemicalSubstance	hydridodioxygen(1+)			mondo.json	[HO2](+)|hydridodioxygen(1+)|dioxidenium|HOO(+)|HO2(+)	http://purl.obolibrary.org/obo/CHEBI_29793		
GO:1904410	biolink:NamedThing	negative regulation of secretory granule organization	Any process that stops, prevents or reduces the frequency, rate or extent of secretory granule organization.		mondo.json	negative regulation of secretory granule organization and biogenesis|down regulation of secretory granule organisation|down-regulation of secretory granule organization and biogenesis|inhibition of secretory granule organisation|down-regulation of secretory granule organisation|down regulation of secretory granule organization and biogenesis|negative regulation of secretory granule organisation|downregulation of secretory granule organization|downregulation of secretory granule organization and biogenesis|down regulation of secretory granule organization|inhibition of secretory granule organization|down-regulation of secretory granule organization|downregulation of secretory granule organisation|inhibition of secretory granule organization and biogenesis	http://purl.obolibrary.org/obo/GO_1904410		
CL:0000782	biolink:Cell	myeloid dendritic cell	A dendritic cell of the myeloid lineage.	BTO:0004721	mondo.json	veiled cell|mDC|CD11c+CD123- DC|interdigitating cell	http://purl.obolibrary.org/obo/CL_0000782		
HGNC:7944	biolink:NamedThing	NPR2			mondo.json		http://identifiers.org/hgnc/7944		
CL:0000785	biolink:Cell	mature B cell	A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen.		mondo.json	mature B-cell|mature B lymphocyte|mature B-lymphocyte	http://purl.obolibrary.org/obo/CL_0000785		
CL:0000786	biolink:Cell	plasma cell	A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin.	FMA:70574|BTO:0000392	mondo.json	plasmacyte|effector B cell|plasmocyte|effector B-cell|plasma B cell|plasma B-cell	http://purl.obolibrary.org/obo/CL_0000786		
NCBITaxon:144051	biolink:OrganismalEntity	Cripavirus		GC_ID:1	mondo.json	Cricket paralysis-like viruses	http://purl.obolibrary.org/obo/NCBITaxon_144051		
GO:1904427	biolink:NamedThing	positive regulation of calcium ion transmembrane transport	Any process that activates or increases the frequency, rate or extent of calcium ion transmembrane transport.		mondo.json	up-regulation of calcium ion transmembrane transport|upregulation of transmembrane calcium transport|positive regulation of calcium ion membrane transport|up regulation of calcium ion transmembrane transport|up regulation of calcium ion membrane transport|activation of calcium ion transmembrane transport|activation of calcium ion membrane transport|up-regulation of calcium ion membrane transport|up-regulation of transmembrane calcium transport|upregulation of calcium ion transmembrane transport|up regulation of transmembrane calcium transport|activation of transmembrane calcium transport|positive regulation of transmembrane calcium transport|upregulation of calcium ion membrane transport	http://purl.obolibrary.org/obo/GO_1904427		
GO:0015605	biolink:NamedThing	organophosphate ester transmembrane transporter activity	Enables the transfer of organophosphate esters from one side of a membrane to the other. Organophosphate esters are small organic molecules containing phosphate ester bonds.		mondo.json		http://purl.obolibrary.org/obo/GO_0015605		
CL:0000790	biolink:Cell	immature alpha-beta T cell	An alpha-beta T cell that has an immature phenotype and has not completed T cell selection.		mondo.json	immature alpha-beta T-lymphocyte|immature alpha-beta T-cell|immature alpha-beta T lymphocyte	http://purl.obolibrary.org/obo/CL_0000790		
CL:0000791	biolink:Cell	mature alpha-beta T cell	A alpha-beta T cell that has a mature phenotype.		mondo.json	mature alpha-beta T-cell|mature alpha-beta T lymphocyte|mature alpha-beta T-lymphocyte	http://purl.obolibrary.org/obo/CL_0000791		
GO:1990351	biolink:NamedThing	transporter complex	A protein complex facilitating transport of molecules (proteins, small molecules, nucleic acids) into, out of or within a cell, or between cells.		mondo.json		http://purl.obolibrary.org/obo/GO_1990351		
NCBITaxon:2948964	biolink:OrganismalEntity	Phleinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2948964		
NCBITaxon:119088	biolink:OrganismalEntity	Enoplea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_119088		
NCBITaxon:119089	biolink:OrganismalEntity	Chromadorea		GC_ID:1	mondo.json	Adenophorea	http://purl.obolibrary.org/obo/NCBITaxon_119089		
HP:0000359	biolink:PhenotypicFeature	Abnormality of the inner ear	An abnormality of the inner ear.	UMLS:C4021809	mondo.json	Inner ear abnormality|Abnormality of the inner ear	http://purl.obolibrary.org/obo/HP_0000359		
MONDO:0023272	biolink:Disease	goniodysgenesis intellectual disability short stature		GARD:0002545	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023272		gard_rare
MONDO:0023273	biolink:Disease	pigmented dermatofibrosarcoma protuberans	A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of melanin-pigmented dendritic cells.	NCIT:C9430|UMLS:C0334464|SCTID:398670003|GARD:0009624	mondo.json	Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor)|pigmented dermatofibrosarcoma protuberans|Pigmented storiform neurofibroma|Tumor, Bednar's|Bednar Tumor|Pigmented Dermatofibrosarcoma Protuberan|Pigmented dermatofibrosarcoma protuberans of skin|Protuberans, Pigmented Dermatofibrosarcoma|Dermatofibrosarcoma Protuberans, Pigmented|Bednar's Tumor|DFSP, Pigmented|Pigmented Dermatofibrosarcoma Protuberans|Bednars Tumor|Pigmented DFSP|DFSPs, Pigmented|bednar tumor|pigmented dermatofibrosarcoma protuberans (bednar tumor)|Dermatofibrosarcoma Protuberan, Pigmented|Tumor, Bednar|Protuberan, Pigmented Dermatofibrosarcoma|Pigmented dermatofibrosarcoma|Pigmented DFSPs|Pigmented dermatofibrosarcoma protuberans	http://purl.obolibrary.org/obo/MONDO_0023273	UMLS:C0334464|http://identifiers.org/snomedct/398670003|NCIT:C9430	gard_rare
MONDO:0023275	biolink:Disease	Graham-Boyle-Troxell syndrome	Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.	SCTID:707530009|MESH:C537292|Orphanet:2111|GARD:0002557|UMLS:C2931468|ICD9:759.6	mondo.json	cystic hamartoma of lung and kidney|graham Boyle Troxell syndrome|cystic hamartomata of lung and kidney|Graham-Boyle-Troxell syndrome	http://purl.obolibrary.org/obo/MONDO_0023275	UMLS:C2931468|Orphanet:2111|http://identifiers.org/mesh/C537292|http://identifiers.org/snomedct/707530009	ordo_disease|gard_rare
MONDO:0011298	biolink:Disease	schizophrenia 8	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD8 on chromosome 18p.	DOID:0070084|UMLS:C1864124|OMIM:603206	mondo.json	schizophrenia 8 with or without an affective disorder|schizophrenia 8|SCZD8|schizophrenia susceptibility locus, chromosome 18-related	http://purl.obolibrary.org/obo/MONDO_0011298	UMLS:C1864124|DOID:0070084|https://omim.org/entry/603206	
MONDO:0011297	biolink:Disease	autosomal dominant nocturnal frontal lobe epilepsy 2	An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in variation in the chromosome region 15q24.	OMIM:603204|MESH:C566400|DOID:0060683|UMLS:C1864125	mondo.json	nocturnal frontal lobe epilepsy 2|epilepsy, nocturnal frontal lobe, type 2|ENFL2|autosomal dominant nocturnal frontal lobe epilepsy type 2|epilepsy, nocturnal frontal lobe, 2	http://purl.obolibrary.org/obo/MONDO_0011297	UMLS:C1864125|http://identifiers.org/mesh/C566400|https://omim.org/entry/603204|DOID:0060683	
MONDO:0011299	biolink:Disease	Huntington disease-like 1	Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene.	OMIM:603218|Orphanet:157941|DOID:0090103|UMLS:C1864112|MESH:C566398	mondo.json	HLN1|Huntington-like neurodegenerative disorder 1|Huntington disease-like 1|Huntington-like neurodegenerative disorder, autosomal dominant|Huntington disease-like type 1|HDL1|prion disease, early-onset, with prominent psychiatric features|autosomal dominant Huntington-like neurodegenerative disorder|early-onset prion disease with prominent psychiatric features|PRNP neurodegenerative disease with chorea|neurodegenerative disease with chorea caused by mutation in PRNP|Huntington's disease-like 1	http://purl.obolibrary.org/obo/MONDO_0011299	UMLS:C1864112|Orphanet:157941|http://identifiers.org/mesh/C566398|https://omim.org/entry/603218|DOID:0090103	ordo_disease
MONDO:0011290	biolink:Disease	dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability		OMIM:603133|UMLS:C1864183|MESH:C566408	mondo.json	dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation|dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0011290	http://identifiers.org/mesh/C566408|https://omim.org/entry/603133|UMLS:C1864183	
MONDO:0011292	biolink:Disease	dermatitis, atopic		MESH:D003876|OMIM:603165	mondo.json	Atod|dermatitis, Atopic, 1|dermatitis, atopic, susceptibility to, 1|eczema, Atopic|dermatitis, atopic	http://purl.obolibrary.org/obo/MONDO_0011292	http://identifiers.org/mesh/D003876|https://omim.org/entry/603165	
MONDO:0011291	biolink:Disease	ALG6-congenital disorder of glycosylation 1C	A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).	Orphanet:79320|DOID:0080555|GARD:0009829|SCTID:709412006|UMLS:C2930997|OMIM:603147|MESH:C535741|NCIT:C126869	mondo.json	congenital disorder of glycosylation, type Ic|ALG6-congenital disorder of glycosylation 1C|carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly)|ALG6-CDG|carbohydrate-deficient glycoprotein syndrome, type V, formerly|CDGIc|carbohydrate-deficient glycoprotein syndrome, type V|carbohydrate-deficient glycoprotein syndrome type 1C|CDG 1C|CDG syndrome type Ic|congenital disorder of glycosylation type Ic|CDGS5 (formerly)|carbohydrate-deficient glycoprotein syndrome, type V (formerly)|glucosyltransferase 1 deficiency|CDG1C|CDG Ic|carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide, formerly|ALG6 congenital disorder of glycosylation|ALG6-CDG1C|carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide|congenital disorder of glycosylation caused by mutation in ALG6|congenital disorder of glycosylation type 1C|carbohydrate deficient glycoprotein syndrome type Ic|ALG6-CDG (CDG-Ic)|CDG-Ic	http://purl.obolibrary.org/obo/MONDO_0011291	UMLS:C2930997|http://identifiers.org/snomedct/709412006|DOID:0080555|https://omim.org/entry/603147|Orphanet:79320|http://identifiers.org/mesh/C535741|NCIT:C126869	ordo_disease
MONDO:0011294	biolink:Disease	schizophrenia 5	A schizophrenia that has material basis in a mutation on chromosome 6q13-q26.	DOID:0070081|OMIM:603175|UMLS:C1864153	mondo.json	SCZD5|schizophrenia 5 with or without an affective disorder|schizophrenia 5|schizophrenia susceptibility locus, chromosome 6Q-related	http://purl.obolibrary.org/obo/MONDO_0011294	DOID:0070081|https://omim.org/entry/603175|UMLS:C1864153	
MONDO:0011293	biolink:Disease	obsolete Homocysteinemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0011293		
MONDO:0011296	biolink:Disease	Meckel syndrome, type 2	Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene.	MESH:C536131|UMLS:C1864148|DOID:0070116|OMIM:603194|GARD:0008743	mondo.json	Meckel syndrome caused by mutation in TMEM216|Meckel syndrome 2|Meckel-Gruber syndrome, type 2|Meckel syndrome type 2|MKS2|TMEM216 Meckel syndrome|Meckel syndrome, type 2	http://purl.obolibrary.org/obo/MONDO_0011296	DOID:0070116|http://identifiers.org/mesh/C536131|https://omim.org/entry/603194|UMLS:C1864148	gard_rare
MONDO:0035267	biolink:Disease	obsolete quadricuspid aortic valve	OBSOLETE. A rare congenital aortic malformation characterized by an aortic valve with four cusps instead of the usual three. The cusps can be equal-sized or vary in size. The malformation is an isolated finding in the majority of cases but may also be associated with other cardiac anomalies. The most common complication is aortic regurgitation. Aortic stenosis is infrequently observed. Patients usually become symptomatic in the fifth to sixth decade of life and may present with palpitations, chest pain, dyspnea, fatigue, pedal edema, and syncope. In severe cases, congestive heart failure can be the presenting symptom. [Orphanet:542568]	Orphanet:542568	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035267	Orphanet:542568	
MONDO:0011295	biolink:Disease	schizophrenia 7	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD7 on chromosome 13q32.	DOID:0070083|OMIM:603176	mondo.json	SCZD7|schizophrenia 7 with or without an affective disorder|schizophrenia susceptibility locus, chromosome 13Q-related|schizophrenia 7	http://purl.obolibrary.org/obo/MONDO_0011295	DOID:0070083|https://omim.org/entry/603176	
NCBITaxon:119093	biolink:OrganismalEntity	Trichuridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_119093		
MONDO:0023267	biolink:Disease	goldstein hutt syndrome		MESH:C537282|UMLS:C2931465	mondo.json	trichomegaly, cataract, and hereditary spherocytosis|long eyelashes, cataract, and hereditary spherocytosis	http://purl.obolibrary.org/obo/MONDO_0023267	UMLS:C2931465|http://identifiers.org/mesh/C537282	
HP:0012332	biolink:PhenotypicFeature	Abnormal autonomic nervous system physiology	A functional abnormality of the autonomic nervous system.	UMLS:C4022952	mondo.json	Autonomic dysregulation|Autonomic dysfunction|Dysautonomia	http://purl.obolibrary.org/obo/HP_0012332		
NCBITaxon:15957	biolink:OrganismalEntity	Phleum pratense		GC_ID:1	mondo.json	timothy|timothy grass	http://purl.obolibrary.org/obo/NCBITaxon_15957		
NCBITaxon:119095	biolink:OrganismalEntity	Capillaria		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_119095		
HP:0012337	biolink:PhenotypicFeature	Abnormal homeostasis	An anomaly in the processes involved in the maintenance of an internal equilibrium.	UMLS:C4022950|MP:0001764	mondo.json		http://purl.obolibrary.org/obo/HP_0012337		
NCBITaxon:15956	biolink:OrganismalEntity	Phleum		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_15956		
MONDO:0023263	biolink:Disease	glyceraldehyde-3-phosphate dehydrogenase deficiency		MESH:C536837|GARD:0002510|HGNC:4141|UMLS:C1291264	mondo.json	GAPDH deficiency	http://purl.obolibrary.org/obo/MONDO_0023263	UMLS:C1291264|http://identifiers.org/mesh/C536837	gard_rare
MONDO:0011287	biolink:Disease	craniosynostosis-anal anomalies-porokeratosis syndrome	Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).	Orphanet:85199|MESH:C536789|OMIM:603116|GARD:0009506|SCTID:720812002	mondo.json	craniosynostosis and clavicular hypoplasia, delayed closure of the fontanel, anal anomalies and genitourinary malformations|CDAGS syndrome|craniosynostosis, anal anomalies, and porokeratosis|CAP syndrome	http://purl.obolibrary.org/obo/MONDO_0011287	http://identifiers.org/snomedct/720812002|Orphanet:85199|https://omim.org/entry/603116|http://identifiers.org/mesh/C536789	ordo_malformation_syndrome
MONDO:0011286	biolink:Disease	autosomal recessive nonsyndromic hearing loss 13	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36.	OMIM:603098|MESH:C566410|UMLS:C1864199|DOID:0110468	mondo.json	autosomal recessive deafness 13|DFNB13|autosomal recessive nonsyndromic deafness 13|autosomal recessive nonsyndromic deafness type 13|deafness, autosomal recessive 13	http://purl.obolibrary.org/obo/MONDO_0011286	UMLS:C1864199|http://identifiers.org/mesh/C566410|https://omim.org/entry/603098|DOID:0110468	
HP:0000365	biolink:PhenotypicFeature	Hearing impairment	A decreased magnitude of the sensory perception of sound.	SNOMEDCT_US:103276001|SNOMEDCT_US:343087000|SNOMEDCT_US:95828007|SNOMEDCT_US:15188001|Fyler:4868|MSH:D034381|UMLS:C0339789|UMLS:C0011053|MSH:D003638|UMLS:C0018772|UMLS:C1384666	mondo.json	Hearing impairment|Hypacusis|Hypoacusis|Deafness|Hearing defect|Hearing loss	http://purl.obolibrary.org/obo/HP_0000365		
MONDO:0035274	biolink:Disease	obsolete anomaly of the coronary ostia	OBSOLETE. A group of rare congenital coronary artery malformations comprising abnormal number of coronary ostia, malposition of a coronary ostium, and stenosis or atresia of a coronary ostium. Patients may remain asymptomatic or present with variable signs and symptoms, depending on the nature and severity of the malformation, including failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, and myocardial ischemia. [Orphanet:542822]	Orphanet:542822	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035274	Orphanet:542822	
MONDO:0011289	biolink:Disease	apraxia of eyelid opening		OMIM:603119	mondo.json	apraxia of eyelid opening	http://purl.obolibrary.org/obo/MONDO_0011289	https://omim.org/entry/603119	
HP:0000364	biolink:PhenotypicFeature	Hearing abnormality	An abnormality of the sensory perception of sound.	UMLS:C4025860	mondo.json	Abnormal hearing|Hearing abnormality	http://purl.obolibrary.org/obo/HP_0000364		
MONDO:0011288	biolink:Disease	spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal		MESH:C566409|UMLS:C1864185|OMIM:603117	mondo.json	spastic paraplegia, optic atrophy, microcephaly, and XY SEX reversal	http://purl.obolibrary.org/obo/MONDO_0011288	UMLS:C1864185|http://identifiers.org/mesh/C566409|https://omim.org/entry/603117	
HP:0000366	biolink:PhenotypicFeature	Abnormality of the nose	An abnormality of the nose.	UMLS:C2235909|SNOMEDCT_US:128274005|UMLS:C0240547|UMLS:C0265736|SNOMEDCT_US:72089000	mondo.json	Nasal malformation|Nasal abnormality|Abnormality of the nose|Nasal anomaly|Anomaly of the nose|Deformity of the nose|Malformation of the nose|Nasal deformity	http://purl.obolibrary.org/obo/HP_0000366		hposlim_core
MONDO:0011281	biolink:Disease	congenital myasthenic syndrome 5	Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.	MESH:C566415|UMLS:C1864233|NCIT:C129304|DOID:0110667|OMIM:603034	mondo.json	endplate acetylcholinesterase deficiency|congenital myasthenic syndrome 5|EAD|congenital myasthenic syndrome Engel type|myasthenic syndrome, congenital, 5|congenital myasthenic syndrome type 5|Cms Ic, formerly|CMS Ic|congenital myasthenic syndrome type Ic, formerly|congenital myasthenic syndrome type Ic|end plate acetylcholinesterase deficiency|Cms Ic|myasthenic syndrome, congenital, type 5|CMS5|COLQ congenital myasthenic syndrome|myasthenic syndrome, congenital, Engel type|Engel congenital myasthenic syndrome|congenital myasthenic syndrome caused by mutation in COLQ	http://purl.obolibrary.org/obo/MONDO_0011281	NCIT:C129304|http://identifiers.org/mesh/C566415|https://omim.org/entry/603034|DOID:0110667|UMLS:C1864233	
BFO:0000167	biolink:NamedThing	has participant at all times			mondo.json		http://purl.obolibrary.org/obo/BFO_0000167		
MONDO:0011280	biolink:Disease	schizophrenia 6	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD6 on chromosome 8p21.	OMIM:603013|DOID:0070082|UMLS:C1864275	mondo.json	schizophrenia 6|SCZD6|schizophrenia susceptibility locus, chromosome 8P-related|schizophrenia, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0011280	DOID:0070082|https://omim.org/entry/603013|UMLS:C1864275	
MONDO:0011283	biolink:Disease	mitochondrial DNA depletion syndrome 1		DOID:0080119|Orphanet:298|OMIM:603041	mondo.json	mitochondrial DNA depletion syndrome type 1|myoneurogastrointestinal encephalopathy syndrome|mitochondrial DNA depletion syndrome 1|polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction|mitochondrial DNA depletion syndrome 1 (MNGIE type)|MTDPS1|Polip syndrome|mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related|Mngie, tymp-related	http://purl.obolibrary.org/obo/MONDO_0011283	DOID:0080119|https://omim.org/entry/603041	
MONDO:0011282	biolink:Disease	tumor suppressor gene on chromosome 11		OMIM:603040|UMLS:C1864232	mondo.json	tumor suppressor Gene on chromosome type 11|Nonsmall cell lung cancer suppressor|tumor suppressor gene on chromosome 11|Tsg11|nonsmall cell lung cancer	http://purl.obolibrary.org/obo/MONDO_0011282	UMLS:C1864232|https://omim.org/entry/603040	
MONDO:0011285	biolink:Disease	age related macular degeneration 1	An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1.	DOID:0110014|OMIM:603075|UMLS:C1864205|MESH:C566411	mondo.json	age related maculopathy 1|age related macular degeneration type 1|ARMD1|macular degeneration, age-related|macular degeneration, age-related, reduced risk of|macular degeneration, age-related, 1|maculopathy, age-related, 1|macular Degeneration, age-related, type 1	http://purl.obolibrary.org/obo/MONDO_0011285	UMLS:C1864205|http://identifiers.org/mesh/C566411|https://omim.org/entry/603075|DOID:0110014	
BFO:0000163	biolink:NamedThing	material basis of at all times			mondo.json		http://purl.obolibrary.org/obo/BFO_0000163		
MONDO:0011284	biolink:Disease	astigmatism	Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed)	OMIM:603047|CSP:1116-1831|DOID:11782|HP:0000483|SCTID:82649003|ICD9:367.2|ICD9:367.20|UMLS:C0004106|MESH:D001251	mondo.json	astigmatism|astigmatism (disease)	http://purl.obolibrary.org/obo/MONDO_0011284	UMLS:C0004106|DOID:11782|http://identifiers.org/snomedct/82649003|http://identifiers.org/mesh/D001251|https://omim.org/entry/603047	
HP:0000360	biolink:PhenotypicFeature	Tinnitus	Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.	UMLS:C0040264|MSH:D014012|SNOMEDCT_US:162349004|SNOMEDCT_US:162352007|SNOMEDCT_US:60862001	mondo.json	Ringing in the ears|Ringing in ears	http://purl.obolibrary.org/obo/HP_0000360		hposlim_core
MONDO:0023255	biolink:Disease	glossopalatine ankylosis micrognathia ear anomalies		GARD:0002495	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023255		gard_rare
NCBITaxon:119060	biolink:OrganismalEntity	Burkholderiaceae		GC_ID:11|PMID:16403855	mondo.json	Burkholderia group	http://purl.obolibrary.org/obo/NCBITaxon_119060		
HP:0012323	biolink:PhenotypicFeature	Sleep myoclonus	Myoclonus that occurs during the initial phases of sleep.	SNOMEDCT_US:34101000119105|MSH:D009207|UMLS:C0751352	mondo.json		http://purl.obolibrary.org/obo/HP_0012323		
MONDO:0023258	biolink:Disease	glycogen storage disease type 1 due to SLC37A4 mutation	Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene.	MESH:C536831|HGNC:4061|UMLS:C2931345|GARD:0002501	mondo.json	G6P translocase deficiency|SLC37A4 glycogen storage disease I|glycogen storage disease I caused by mutation in SLC37A4|glucose-6-phosphate translocase deficiency	http://purl.obolibrary.org/obo/MONDO_0023258	http://identifiers.org/mesh/C536831|UMLS:C2931345	gard_rare
NCBITaxon:119068	biolink:OrganismalEntity	Spirillaceae		GC_ID:11	mondo.json	Spirillum group	http://purl.obolibrary.org/obo/NCBITaxon_119068		
HGNC:20093	biolink:NamedThing	ADSS1			mondo.json		http://identifiers.org/hgnc/20093		
MONDO:0023250	biolink:Disease	global disaccharide intolerance		GARD:0008386	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023250		gard_rare
MONDO:0011276	biolink:Disease	orofacial cleft 2		MESH:C566419|UMLS:C1864323|OMIM:602966|DOID:0080396	mondo.json	orofacial cleft 2|OFC2|cleft lip with or without cleft palate, nonsyndromic, 2	http://purl.obolibrary.org/obo/MONDO_0011276	https://omim.org/entry/602966|UMLS:C1864323|DOID:0080396|http://identifiers.org/mesh/C566419	
MONDO:0011275	biolink:Disease	acromesomelic dysplasia 1, Maroteaux type	A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type.	MESH:C535661|DOID:0080050|GARD:0000507|SCTID:718559000|Orphanet:40|OMIM:602875	mondo.json	acromesomelic dwarfism Maroteux type|acromesomelic dysplasia 1, Maroteaux type|acromesomelic dysplasia Maroteaux type|St. Helena dysplasia|acromesomelic dysplasia, Maroteaux type|AMDM	http://purl.obolibrary.org/obo/MONDO_0011275	https://omim.org/entry/602875|Orphanet:40|DOID:0080050|http://identifiers.org/snomedct/718559000|http://identifiers.org/mesh/C535661	gard_rare|ordo_malformation_syndrome
MONDO:0011278	biolink:Disease	obsolete bile duct cysts			mondo.json		http://purl.obolibrary.org/obo/MONDO_0011278		
MONDO:0011277	biolink:Disease	obsolete leukoregulin		OMIM:602994	mondo.json	leukoregulin	http://purl.obolibrary.org/obo/MONDO_0011277	https://omim.org/entry/602994	
MONDO:0011279	biolink:Disease	autosomal recessive nonsyndromic hearing loss 17	An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S2453 and D7S525 in the chromosome region 7q31.	UMLS:C1864276|MESH:C566418|DOID:0110472|OMIM:603010	mondo.json	autosomal recessive nonsyndromic deafness type 17|DFNB17|autosomal recessive deafness 17|autosomal recessive nonsyndromic deafness 17|deafness, autosomal recessive 17	http://purl.obolibrary.org/obo/MONDO_0011279	DOID:0110472|UMLS:C1864276|http://identifiers.org/mesh/C566418|https://omim.org/entry/603010	
ENVO:02000140	biolink:NamedThing	fluid environmental material	A liquid or a gas.		mondo.json	fluid	http://purl.obolibrary.org/obo/ENVO_02000140		
MONDO:0011270	biolink:Disease	prostate cancer, hereditary, 8		OMIM:602759|MESH:C566426|UMLS:C1864472	mondo.json	prostate cancer, hereditary, type 8|prostate cancer, hereditary, 8|predisposing for prostate cancer|prostate cancer, susceptibility to|HPC8	http://purl.obolibrary.org/obo/MONDO_0011270	UMLS:C1864472|http://identifiers.org/mesh/C566426|https://omim.org/entry/602759	
MONDO:0011272	biolink:Disease	retinitis pigmentosa 25	Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene.	OMIM:602772|DOID:0110384|ICD10CM:H35.5|MESH:C566425|UMLS:C1864446|GARD:0010384	mondo.json	RP25|retinitis pigmentosa 25|retinitis pigmentosa type 25|EYS retinitis pigmentosa|RP 25|retinitis pigmentosa caused by mutation in EYS	http://purl.obolibrary.org/obo/MONDO_0011272	https://omim.org/entry/602772|UMLS:C1864446|http://identifiers.org/mesh/C566425|DOID:0110384	gard_rare
MONDO:0011271	biolink:Disease	rigid spine muscular dystrophy 1	An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage.	UMLS:C0410180|SCTID:240063002|OMIM:602771|NCIT:C126691|DOID:0110633	mondo.json	muscular dystrophy, rigid spine, 1|severe classic form minicore myopathy|severe classic form multiminicore disease|RSMD1|desmin-related myopathy with Mallory bodies|muscular dystrophy, congenital, merosin-positive, with early spine rigidity|congenital merosin-positive muscular dystrophy with early spine rigidity|MDRS1|classic multiminicore myopathy|rigid spine syndrome|muscular dystrophy, congenital, Eichsfeld type|Eichsfeld type congenital muscular dystrophy|classic multiminicore disease|multicore myopathy, severe classic form|multiminicore disease, severe classic form|minicore myopathy, severe classic form|RSS|SEPN1-related myopathy|rigid spine syndrome caused by mutation in SELENON|SELENON rigid spine syndrome|rigid spine muscular dystrophy 1|myopathy, SEPN1-related|classic MmD|rigid spine muscular dystrophy type 1|severe classic form multicore myopathy	http://purl.obolibrary.org/obo/MONDO_0011271	https://omim.org/entry/602771|UMLS:C0410180|DOID:0110633|http://identifiers.org/snomedct/240063002|NCIT:C126691	
MONDO:0011274	biolink:Disease	Muenke syndrome	Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.	UMLS:C1864436|MESH:C537369|DOID:0060703|GARD:0007097|SCTID:440350001|Orphanet:53271|NCIT:C84904|OMIM:602849	mondo.json	FGFR3-related craniosynostosis|syndrome of coronal craniosynostosis|MNKES|Muenke syndrome|Muenke nonsyndromic coronal craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0011274	Orphanet:53271|https://omim.org/entry/602849|DOID:0060703|UMLS:C1864436|NCIT:C84904|http://identifiers.org/snomedct/440350001|http://identifiers.org/mesh/C537369	ordo_malformation_syndrome|gard_rare
MONDO:0011273	biolink:Disease	H syndrome	A systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).	GARD:0000581|MESH:C538322|Orphanet:158014|GARD:0010239|MESH:C535391|SCTID:711159002|Orphanet:168569|UMLS:C1864445|UMLS:C2930890|OMIM:602782	mondo.json	sinus histiocytosis and massive lymphadenopathy|H syndrome|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness|Rosai-Dorfman disease, familial|Asrar Facharzt Haque syndrome|pigmented hypertrichosis with insulin-dependent diabetes mellitus|SLC29A3 spectrum disorder|Faisalabad histiocytosis|HJCD|histiocytosis-lymphadenopathy plus syndrome|histiocytosis with Joint contractures and sensorineural deafness	http://purl.obolibrary.org/obo/MONDO_0011273	https://omim.org/entry/602782|UMLS:C1864445|Orphanet:168569|UMLS:C2930890|http://identifiers.org/mesh/C538322|http://identifiers.org/snomedct/711159002|http://identifiers.org/mesh/C535391	ordo_malformation_syndrome|gard_rare
MONDO:0023243	biolink:Disease	glass-chapman-hockley syndrome	The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly).The inheritance is thought to be autosomal dominant. No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported. This is an n-of-1 use case where only one patient or family has been described with this disorder.	SCTID:720814001|Orphanet:1535|UMLS:C4303810|GARD:0002479	mondo.json	craniosynostosis with facial dysmorphism and brachydactyly syndrome|craniosynostosis-dysmorphism-brachydactyly syndrome|glass chapman hockley syndrome|craniosynostosis - dysmorphism - brachydactyly|craniosynostosis brachydactyly	http://purl.obolibrary.org/obo/MONDO_0023243	http://identifiers.org/snomedct/720814001|UMLS:C4303810|Orphanet:1535	n_of_one|gard_rare
MONDO:0023246	biolink:Disease	linear porokeratosis	Linear porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border.The patches usually develop in infants or young children, but they sometimes develop in adults.	SCTID:238631008|UMLS:C0302319	mondo.json	Porokeratosis, Linear|Linear Porokeratosis|Congenital facial linear porokeratosis (type)|Zosteriform porokeratosis|Linear porokeratosis	http://purl.obolibrary.org/obo/MONDO_0023246	http://identifiers.org/snomedct/238631008|UMLS:C0302319	gard_rare
MONDO:0023249	biolink:Disease	polyarticular juvenile rheumatoid arthritis		UMLS:C0311221|SCTID:445479007|GARD:0010967	mondo.json	Polyarticular juvenile rheumatoid arthritis|Juvenile polyarthritis rheumatoid factor positive|Juvenile polyarthritis rheumatoid factor negative	http://purl.obolibrary.org/obo/MONDO_0023249	http://identifiers.org/snomedct/445479007|UMLS:C0311221	gard_rare
MONDO:0035290	biolink:Disease	atypical hemolytic uremic syndrome with complement gene abnormality		ICD10CM:D58.8|OMIM:612926|OMIM:612925|OMIM:612924|OMIM:612923|OMIM:612922|OMIM:235400|OMIM:615008|Orphanet:544472|OMIM:609814	mondo.json	Atypical HUS with complement gene abnormality|aHUS with complement gene abnormality	http://purl.obolibrary.org/obo/MONDO_0035290	Orphanet:544472	ordo_subtype_of_a_disorder
MONDO:0023240	biolink:Disease	gigantism advanced bone age hoarse cry		GARD:0002471	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023240		gard_rare
MONDO:0011265	biolink:Disease	tooth agenesis, selective, 2		UMLS:C1865092|OMIM:602639|MESH:C566513	mondo.json	hypodontia/oligodontia 2|STHAG2|tooth agenesis, selective, 2	http://purl.obolibrary.org/obo/MONDO_0011265	UMLS:C1865092|https://omim.org/entry/602639|http://identifiers.org/mesh/C566513	
MONDO:0011264	biolink:Disease	torsion dystonia 6	Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.	MESH:C538003|SCTID:702448007|GARD:0009630|DOID:0090039|Orphanet:98806|UMLS:C1414216|OMIM:602629	mondo.json	torsion dystonia type 6|generalized cervical and upper-limb-onset dystonia|adolescent-onset dystonia of mixed type|THAP1 generalized isolated dystonia|primary dystonia, DYT6 type|dystonia 6|DYT6|DYT-THAP1|torsion dystonia adult onset mixed type|generalized isolated dystonia caused by mutation in THAP1|idiopathic torsion dystonia of mixed type|dystonia 6, torsion|torsion dystonia, adult-onset, mixed type	http://purl.obolibrary.org/obo/MONDO_0011264	https://omim.org/entry/602629|UMLS:C1414216|http://identifiers.org/snomedct/702448007|http://identifiers.org/mesh/C538003|Orphanet:98806|DOID:0090039	ordo_disease
MONDO:0011267	biolink:Disease	intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration		OMIM:602685|MESH:C566429|UMLS:C1864549	mondo.json	mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration|mental retardation, severe, with spasticity and tapetoretinal degeneration|Mrst|intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration	http://purl.obolibrary.org/obo/MONDO_0011267	https://omim.org/entry/602685|UMLS:C1864549|http://identifiers.org/mesh/C566429	
MONDO:0011266	biolink:Disease	myotonic dystrophy type 2	Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders.	Orphanet:606|OMIM:602668|NCIT:C122789|SCTID:41574007|DOID:0050759|ICD9:359.2|NCIT:C84680|UMLS:C0752355|NCIT:C122790|GARD:0009728	mondo.json	CNBP myotonic dystrophy|myotonic myopathy, proximal|dystrophia myotonica type 2|myotonic dystrophy 2|myotonic dystrophy caused by mutation in CNBP|PROMM|proximal myotonic dystrophy|proximal myotonic myopathy|myotonic dystrophy type 2|DM2|dystrophia myotonica 2|ricker disease|ricker syndrome	http://purl.obolibrary.org/obo/MONDO_0011266	DOID:0050759|https://omim.org/entry/602668|NCIT:C84680|Orphanet:606	ordo_disease|gard_rare
MONDO:0035295	biolink:Disease	congenital primary megaureter, refluxing and obstructed form		Orphanet:544578|ICD10CM:Q62.2	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035295	Orphanet:544578	ordo_subtype_of_a_disorder
MONDO:0011269	biolink:Disease	psoriasis 2	Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene.	UMLS:C1864497|OMIM:602723|DOID:0080475	mondo.json	CARD14 psoriasis|PSORS2|psoriasis caused by mutation in CARD14|psoriasis type 2|psoriasis 2	http://purl.obolibrary.org/obo/MONDO_0011269	https://omim.org/entry/602723|UMLS:C1864497|DOID:0080475	
MONDO:0011268	biolink:Disease	renal tubular acidosis, distal, 3, with or without sensorineural hearing loss		OMIM:602722|GARD:0004669	mondo.json	renal tubular acidosis, distal, 3, with or without sensorineural hearing loss|RTA, distal, autosomal recessive|classical distal renal tubular acidosis|distal renal tubular acidosis 3, with or without sensorineural hearing loss|renal tubular acidosis, autosomal recessive, with preserved hearing|classical distal RTA|renal tubular acidosis, autosomal recessive with preserved hearing|type 1 renal tubular acidosis|RTADR|type 1 RTA|renal tubular acidosis, distal, autosomal recessive|renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss|renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss, included	http://purl.obolibrary.org/obo/MONDO_0011268	https://omim.org/entry/602722	
MONDO:0035293	biolink:Disease	streptococcus pneumoniae-associated hemolytic uremic syndrome		ICD10CM:D58.8|Orphanet:544493	mondo.json	SP-HUS|S. pneumoniae-associated HUS	http://purl.obolibrary.org/obo/MONDO_0035293	Orphanet:544493	ordo_subtype_of_a_disorder
HP:0000347	biolink:PhenotypicFeature	Micrognathia	Developmental hypoplasia of the mandible.	SNOMEDCT_US:32958008|Fyler:4163|UMLS:C1857130|MSH:D008844|UMLS:C0240295|UMLS:C0025990	mondo.json	Retrusion of lower jaw|Mandibular retrusion|Lower jaw hypoplasia|Robin mandible|Hypotrophic mandible|Decreased size of mandible|Micromandible|Small lower jaw|Small jaw|Little lower jaw|Decreased projection of lower jaw|Mandibular deficiency|Mandibular retrognathia|Decreased size of lower jaw|Decreased projection of mandible|Deficiency of lower jaw|Hypotrophic lower jaw|Hypoplastic mandible|Hypoplastic mandible condyle|Hypoplasia of mandible|Mandibular hypoplasia|Hypoplasia of lower jaw|Lower jaw retrusion|Lower jaw deficiency|Underdevelopment of mandible|Severe hypoplasia of mandible|Mandibular micrognathia|Little mandible|Micrognathia of lower jaw|Underdevelopment of lower jaw|Small mandible	http://purl.obolibrary.org/obo/HP_0000347		hposlim_core
NCIT:C25218	biolink:NamedThing	Intervention or Procedure			mondo.json		http://purl.obolibrary.org/obo/NCIT_C25218		http://purl.obolibrary.org/obo/NCIT_C99147|http://purl.obolibrary.org/obo/NCIT_C90259|http://purl.obolibrary.org/obo/NCIT_C61410|http://purl.obolibrary.org/obo/NCIT_C166373|http://purl.obolibrary.org/obo/NCIT_C166371|http://purl.obolibrary.org/obo/NCIT_C67497|http://purl.obolibrary.org/obo/NCIT_C165451|http://purl.obolibrary.org/obo/NCIT_C159501|http://purl.obolibrary.org/obo/NCIT_C159502
MONDO:0011261	biolink:Disease	spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability	A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder.	SCTID:718766002|Orphanet:163649|MESH:C566515|OMIM:602611	mondo.json	spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome|spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation|spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0011261	https://omim.org/entry/602611|http://identifiers.org/snomedct/718766002|http://identifiers.org/mesh/C566515|Orphanet:163649	ordo_disease|n_of_one
MONDO:0011260	biolink:Disease	pancreatic lymphoma, familial	An instance of pancreas lymphoma that is caused by an inherited modification of the individual's genome.	MESH:C566516|UMLS:C1865139|OMIM:602596	mondo.json	hereditary pancreas lymphoma|pancreatic lymphoma, familial	http://purl.obolibrary.org/obo/MONDO_0011260	UMLS:C1865139|https://omim.org/entry/602596|http://identifiers.org/mesh/C566516	predisposition
MONDO:0011263	biolink:Disease	skeletal dysplasia and progressive central nervous system degeneration, lethal		UMLS:C1865117|MESH:C566514|OMIM:602613	mondo.json	skeletal dysplasia and progressive central nervous system degeneration, lethal	http://purl.obolibrary.org/obo/MONDO_0011263	https://omim.org/entry/602613|UMLS:C1865117|http://identifiers.org/mesh/C566514	
MONDO:0011262	biolink:Disease	camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye	A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).	SCTID:715986009|OMIM:602612|Orphanet:1323|UMLS:C1865133|GARD:0000216|MESH:C535876	mondo.json	camptodactyly, joint contractures, facial skeletal defects|Rozin hertz Goodman syndrome|camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye	http://purl.obolibrary.org/obo/MONDO_0011262	http://identifiers.org/mesh/C535876|UMLS:C1865133|https://omim.org/entry/602612|http://identifiers.org/snomedct/715986009|Orphanet:1323	gard_rare|ordo_malformation_syndrome
HGNC:19087	biolink:NamedThing	EBF3			mondo.json		http://identifiers.org/hgnc/19087		
HGNC:19082	biolink:NamedThing	NALCN			mondo.json		http://identifiers.org/hgnc/19082		
NCBITaxon:27973	biolink:OrganismalEntity	Encephalitozoon hellem		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_27973		
GO:0001050	biolink:NamedThing	single-subunit type RNA polymerase binding	Binding to a single subunit RNA polymerase enzyme, which is composed of a single catalytic subunit similar to the RNA polymerase enzymes from phages T3, T7, and SP6.		mondo.json	T7-type RNA polymerase binding|T3/T7 type RNA polymerase binding|T3-type RNA polymerase binding|SP6-type RNA polymerase binding	http://purl.obolibrary.org/obo/GO_0001050		
HP:0012384	biolink:PhenotypicFeature	Rhinitis	Inflammation of the nasal mucosa with nasal congestion.	UMLS:C2718128|SNOMEDCT_US:70076002|MSH:D012220|UMLS:C0035455	mondo.json	Nasal inflammation	http://purl.obolibrary.org/obo/HP_0012384		hposlim_core
MONDO:0035220	biolink:Disease	PLG-related hereditary angioedema with normal C1inh		ICD10CM:D84.1|Orphanet:537072	mondo.json	PLG-related HAE with normal C1 inhibitor	http://purl.obolibrary.org/obo/MONDO_0035220	Orphanet:537072	ordo_subtype_of_a_disorder
CHR:9606-chr16p13	biolink:NamedThing	16p13 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr16p13		
GO:0015696	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0015696		
GO:0015698	biolink:NamedThing	inorganic anion transport	The directed movement of inorganic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage.		mondo.json		http://purl.obolibrary.org/obo/GO_0015698		
BFO:0000132	biolink:NamedThing	part of occurrent			mondo.json		http://purl.obolibrary.org/obo/BFO_0000132		
GO:0015693	biolink:NamedThing	magnesium ion transport	The directed movement of magnesium (Mg) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	magnesium transport	http://purl.obolibrary.org/obo/GO_0015693		
GO:0015695	biolink:NamedThing	organic cation transport	The directed movement of organic cations into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic cations are atoms or small molecules with a positive charge which contain carbon in covalent linkage.		mondo.json		http://purl.obolibrary.org/obo/GO_0015695		
CHR:9606-chr16p11	biolink:NamedThing	16p11 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr16p11		
CHR:9606-chr16p12	biolink:NamedThing	16p12 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr16p12		
HP:0012374	biolink:PhenotypicFeature	obsolete Abnormal globe morphology			mondo.json		http://purl.obolibrary.org/obo/HP_0012374		
GO:0001067	biolink:NamedThing	transcription regulatory region nucleic acid binding	Binding to a nucleic acid region that regulates a nucleic acid-based process. Such processes include transcription, DNA replication, and DNA repair.		mondo.json	regulatory region nucleic acid binding	http://purl.obolibrary.org/obo/GO_0001067		
HP:0012372	biolink:PhenotypicFeature	Abnormal eye morphology	A structural anomaly of the globe of the eye, or bulbus oculi.	UMLS:C4022925|Fyler:4863	mondo.json	Abnormally shaped eye|Abnormal eye structure|Abnormality of the globe	http://purl.obolibrary.org/obo/HP_0012372		
HP:0012373	biolink:PhenotypicFeature	Abnormal eye physiology	A functional anomaly of the eye.	UMLS:C4022924	mondo.json	Abnormal eye physiology	http://purl.obolibrary.org/obo/HP_0012373		
HGNC:20087	biolink:NamedThing	TTC8			mondo.json		http://identifiers.org/hgnc/20087		
MONDO:0035238	biolink:Disease	vegetative pyoderma gangrenosum	A rare subtype of pyoderma gangrenosum disease characterized by a solitary, erythematous, ulcerated plaque, which lacks the violaceous border typically present in classic pyoderma gangrenosum, usually affecting individuals who are otherwise healthy. Histologically, the lesion presents a central layer containing neutrophilic inflamation, surrounded by a palisade of histiocytes, which are rimmed by a lymphocytic infiltrate. In comparison with the other variants of pyoderma gangrenosum, this subtype usually shows a good response to less aggressive treatments and underlying systemic disorders are less frequently associated. It is considered the most benign and uncommon clinical variant of pyoderma gangrenosum.	ICD10CM:L88|Orphanet:538872	mondo.json	Granulomatous pyoderma gangrenosum	http://purl.obolibrary.org/obo/MONDO_0035238	Orphanet:538872	ordo_subtype_of_a_disorder
MONDO:0035237	biolink:Disease	bullous pyoderma gangrenosum	A rare subtype of pyoderma gangrenosum disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised.	Orphanet:538869|ICD10CM:L88	mondo.json	Phemphigoid pyoderma gangrenosum	http://purl.obolibrary.org/obo/MONDO_0035237	Orphanet:538869	ordo_subtype_of_a_disorder
MONDO:0035236	biolink:Disease	pustular pyoderma gangrenosum	A rare subtype of pyoderma gangrenosum characterized by multiple painful, sterile pustules with a surrounding erythematous halo, predominantly occurring on the trunk and extensor surfaces of the limbs, and potentially persisting for months. Histopathology shows a dermal neutrophilic infiltrate and subcorneal neutrophilic micropustules. The condition is commonly associated with inflammatory bowel disease.	Orphanet:538866|ICD10CM:L88	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035236	Orphanet:538866	ordo_subtype_of_a_disorder
MONDO:0035235	biolink:Disease	classic pyoderma gangrenosum	A rare subtype of pyoderma gangrenosum disease characterized by rapidly progressive, single or multiple, painful, aseptic ulcers which present overhanging, violaceous and undermined borders, surrounding induration and erythema, and granulation tissue (occasionally necrotic tissue and/or a purulent exudate) at the base, mainly affecting the legs (but other body surfaces may also be involved), leading to chronic ulcerations and often regressing with cribriform mutilating scars. The disease presents a chronic relapsing course and systemic features (e.g. fever, malaise, arthralgia, myalgia) may be associated.	ICD10CM:L88|Orphanet:538863	mondo.json	Ulcerative pyoderma gangrenosum	http://purl.obolibrary.org/obo/MONDO_0035235	Orphanet:538863	ordo_subtype_of_a_disorder
ENVO:02000109	biolink:NamedThing	dust from plant parts			mondo.json		http://purl.obolibrary.org/obo/ENVO_02000109		
ENVO:02000108	biolink:NamedThing	cotton dust			mondo.json		http://purl.obolibrary.org/obo/ENVO_02000108		
HP:0012369	biolink:PhenotypicFeature	Abnormal malar bone morphology	An abnormality of the malar surface of the zygomatic bone and including the frontal process of maxilla.	UMLS:C4022926	mondo.json	Anomaly of the malar bones|Abnormality of malar bones|Malar anomaly|Deformity of the malar bones|Malformation of the malar bones	http://purl.obolibrary.org/obo/HP_0012369		
ENVO:02000103	biolink:NamedThing	metallic dust	Dust which is composed primarily of some metallic material.		mondo.json		http://purl.obolibrary.org/obo/ENVO_02000103		
MONDO:0023290	biolink:Disease	grix Blankenship Peterson syndrome		GARD:0002567	mondo.json	craniofacial and osseous defects intellectual disability|craniofacial and osseous defects mental retardation	http://purl.obolibrary.org/obo/MONDO_0023290		gard_rare
ENVO:02000101	biolink:NamedThing	fibrous dust	Dust which is composed of fibrous material.		mondo.json		http://purl.obolibrary.org/obo/ENVO_02000101		
ENVO:02000100	biolink:NamedThing	mineral dust	Dust which is derived from mineral material.		mondo.json		http://purl.obolibrary.org/obo/ENVO_02000100		
ENVO:02000106	biolink:NamedThing	asbestos dust			mondo.json		http://purl.obolibrary.org/obo/ENVO_02000106		
ENVO:02000105	biolink:NamedThing	clay dust	Dust which is derived from clay material.		mondo.json		http://purl.obolibrary.org/obo/ENVO_02000105		
GO:0003690	biolink:NamedThing	double-stranded DNA binding	Binding to double-stranded DNA.		mondo.json	dsDNA binding	http://purl.obolibrary.org/obo/GO_0003690		
MONDO:0023297	biolink:Disease	guttate psoriasis	Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body.It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immunesystem to sunlight and phototherapy.	GARD:0010569|ICD10CM:L40.4|ICD9:696.1|SCTID:37042000|UMLS:C0343052	mondo.json	psoriasis guttate|guttate psoriasis|psoriasis guttata	http://purl.obolibrary.org/obo/MONDO_0023297	UMLS:C0343052|http://identifiers.org/snomedct/37042000|http://purl.bioontology.org/ontology/ICD10CM/L40.4	gard_rare
GO:0015671	biolink:NamedThing	oxygen transport	The directed movement of oxygen (O2) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0015671		
MONDO:0035249	biolink:Disease	obsolete anomalous aortic origin of the left coronary artery	OBSOLETE. A rare coronary artery congenital malformation characterized by an anomalous origin and course of the left coronary artery, which originates from the right aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. This malformation is associated with a high risk of sudden cardiac death so surgical revascularization is recommended even in cases with no associated evidence of myocardial ischemia. [Orphanet:541443]	ICD10CM:Q24.5|Orphanet:541443	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035249	Orphanet:541443	
GO:0015672	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0015672		
HP:0000370	biolink:PhenotypicFeature	Abnormality of the middle ear	An abnormality of the middle ear.	UMLS:C1861141	mondo.json	Middle ear abnormality|Middle ear abnormalities	http://purl.obolibrary.org/obo/HP_0000370		hposlim_core
HGNC:19077	biolink:NamedThing	NCR3			mondo.json		http://identifiers.org/hgnc/19077		
MONDO:0023288	biolink:Disease	green sandford davison syndrome		MESH:C538221|UMLS:C2931777|GARD:0002447|OMIM:601446	mondo.json	renal and anogenital malformations with syndactyly|anal anomalies, renal tract abnormalities, genital malformations, and syndactyly	http://purl.obolibrary.org/obo/MONDO_0023288	UMLS:C2931777|http://identifiers.org/mesh/C538221	gard_rare
HGNC:19073	biolink:NamedThing	THOC2			mondo.json		http://identifiers.org/hgnc/19073		
MONDO:0023282	biolink:Disease	granulomatous hypophysitis	Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma.	GARD:0006547	mondo.json	idiopathic granulomatous hypophysitis	http://purl.obolibrary.org/obo/MONDO_0023282		gard_rare
MONDO:0023283	biolink:Disease	ovarian granulosa cell tumor	A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis.	MESH:C537296|UMLS:C1370419|EFO:1000421|SCTID:254863004|NCIT:C6261	mondo.json	ovarian granulosa cell tumor|granulosa cell tumor of ovary|granulosa theca cell tumor of the ovary|granulosa cell neoplasm of ovary|ovary granulosa cell tumor|granulosa theca cell tumor|GCT of the ovary|ovarian granulosa cell neoplasm|adult granulosa cell tumor of the ovary|granulosa cell neoplasm of the ovary|granulosa cell tumor of the ovary	http://purl.obolibrary.org/obo/MONDO_0023283	http://identifiers.org/mesh/C537296|http://identifiers.org/snomedct/254863004|NCIT:C6261|UMLS:C1370419	
MONDO:0023286	biolink:Disease	graphite pneumoconiosis		ICD9:503|SCTID:17385007|UMLS:C0264439|GARD:0008359	mondo.json	carbon pneumoconiosis|graphitosis|graphite fibrosis of lung|graphite fibrosis|graphite lung disease|graphite pneumoconiosis	http://purl.obolibrary.org/obo/MONDO_0023286	http://identifiers.org/snomedct/17385007|UMLS:C0264439	gard_rare
MONDO:0035252	biolink:Disease	obsolete anomalous origin of coronary artery from the pulmonary artery	OBSOLETE. A rare coronary artery congenital malformation characterized by an anomalous origin of the left (ALCAPA) or right (ARCAPA) coronary artery from the pulmonary artery, with variable clinical presentation, ranging from asymptomatic to early heart failure and death depending on the degree of development of collateral circulation between the left and right coronary artery systems, as well as the pressure level of the pulmonary artery. Infants typically present with feeding difficulties, failure to thrive, dyspnea, irritability, hyperhidrosis, heart murmurs, tachypnea, tachycardia and/or chest pain while adults usually associate dyspnea, chest pain, syncope, and intolerance to physical exercise. Sudden death may occur due to congestive heart failure, myocardial infarction, valvular insufficiencies or ventricular arrhythmias. The majority of cases reported are of an ALCAPA, while ARCAPA is rarely observed. [Orphanet:541507]	Orphanet:541507|ICD10CM:Q24.5	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035252	Orphanet:541507	
MONDO:0035251	biolink:Disease	obsolete anomalous aortic origin of coronary artery	OBSOLETE. A rare group of coronary artery congenital malformation disorders characterized by an anomalous origin and course of the left or right coronary artery, which originates from the contralateral aortic sinus of Valsalva and has an anomalous trajectory which may be: pre-pulmonary (with no hemodynamic consequences), retroaortic (with a course posterior to the aortic root and no hemodynamic consequences), interarterial (located between the aorta and the pulmonary artery and associated with a poorer prognosis), subpulmonary (with an intraconal or intraseptal course), or retrocardiac (located in the posterior atrioventricular sulcus). Clinical manifestations depend on the specific anomalous origin and course which is present, with patients being frequently asymptomatic, although nonspecific chest pain, palpitations, dizziness, dyspnea or syncope, usually following physical exertion, may be associated. Sudden death, due to compression/occlusion of the coronary artery and usually associated with, or immediately following, vigorous physical exercise, may be occasionally observed. [Orphanet:541478]	ICD10CM:Q24.5|Orphanet:541478	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035251	Orphanet:541478	
MONDO:0035250	biolink:Disease	obsolete anomalous aortic origin of the right coronary artery	OBSOLETE. A rare coronary artery congenital malformation characterized by an anomalous origin and course of the right coronary artery, which originates from the left aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. This malformation is associated with a lower risk of sudden cardiac death therefore surgical revascularization is recommended only when signs and/or symptoms of ischemia are present. [Orphanet:541454]	ICD10CM:Q24.5|Orphanet:541454	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035250	Orphanet:541454	
BFO:0000144	biolink:NamedThing	process profile	b is a process_profile =Def. there is some process c such that b process_profile_of c (axiom label in BFO2 Reference: [093-002])		mondo.json		http://purl.obolibrary.org/obo/BFO_0000144		
BFO:0000141	biolink:NamedThing	immaterial entity			mondo.json		http://purl.obolibrary.org/obo/BFO_0000141		
MONDO:0001763	biolink:Disease	ethmoid sinus cancer	A malignant neoplasm involving the ethmoid sinus.	SCTID:363426009|UMLS:C0153477|DOID:1363|ICD9:160.3|ICD10CM:C31.1|NCIT:C3541	mondo.json	malignant ethmoid sinus tumor|malignant neoplasm of the ethmoidal sinus|malignant tumor of the ethmoid sinus|malignant tumor of ethmoid sinus|malignant ethmoidal sinus tumor|cancer of ethmoid sinus|malignant tumor of the ethmoidal sinus|malignant ethmoidal sinus neoplasm|ethmoid sinus cancer|malignant neoplasm of ethmoid sinus|malignant tumor of ethmoidal sinus|malignant neoplasm of the ethmoid sinus|malignant neoplasm of ethmoidal sinus|malignant ethmoid sinus neoplasm	http://purl.obolibrary.org/obo/MONDO_0001763	DOID:1363|UMLS:C0153477|http://identifiers.org/snomedct/363426009|http://purl.bioontology.org/ontology/ICD10CM/C31.1|NCIT:C3541	
HGNC:19165	biolink:NamedThing	TBC1D4			mondo.json		http://identifiers.org/hgnc/19165		
MONDO:0001762	biolink:Disease	dentine erosion	A tooth erosion, non-bacterial that involves the dentine.	DOID:13629|ICD9:521.32	mondo.json	tooth erosion, non-bacterial of dentine|dentine tooth erosion, non-bacterial	http://purl.obolibrary.org/obo/MONDO_0001762	DOID:13629	
MONDO:0001761	biolink:Disease	favism	A condition associated with glucose-6-phosphate dehydrogenase deficiency, which is characterized by hemolysis.	SCTID:191172001|NCIT:C34607|DOID:13628|MESH:D005236|UMLS:C0015702	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001761	http://identifiers.org/snomedct/191172001|NCIT:C34607|DOID:13628|http://identifiers.org/mesh/D005236|UMLS:C0015702	
MONDO:0001760	biolink:Disease	photokeratitis	Injury to the cornea secondary to ultraviolet light.	UMLS:C0155078|NCIT:C118750|SCTID:1714005|DOID:13626|ICD9:370.24	mondo.json	ultraviolet keratitis	http://purl.obolibrary.org/obo/MONDO_0001760	NCIT:C118750|UMLS:C0155078|DOID:13626|http://identifiers.org/snomedct/1714005	
MONDO:0001767	biolink:Disease	stenosis of lacrimal punctum		UMLS:C0155244|ICD9:375.52|DOID:13653|SCTID:74783009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001767	http://identifiers.org/snomedct/74783009|UMLS:C0155244|DOID:13653	
NCBITaxon:39759	biolink:OrganismalEntity	Deltavirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_39759		
MONDO:0001766	biolink:Disease	eversion of lacrimal punctum		ICD9:375.51|UMLS:C0155243|SCTID:28244003|DOID:13651	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001766	UMLS:C0155243|DOID:13651|http://identifiers.org/snomedct/28244003	
MONDO:0001765	biolink:Disease	polyneuropathy in collagen vascular disease		ICD9:357.1|UMLS:C0154759|SCTID:193177003|DOID:13649|ICD9:357.4	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001765	DOID:13649|http://identifiers.org/snomedct/193177003|UMLS:C0154759	
MONDO:0001764	biolink:Disease	ethmoidal sinus neoplasm	A benign or malignant neoplasm that affects the ethmoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	SCTID:126677000|DOID:1364|NCIT:C4416|UMLS:C0345668	mondo.json	ethmoid sinus neoplasm (disease)|tumor of the ethmoidal sinus|ethmoidal sinus neoplasm|tumor of ethmoid sinus|neoplasm of the ethmoid sinus|tumor of ethmoidal sinus|ethmoid sinus neoplasm|neoplasm of the ethmoidal sinus|neoplasm of ethmoidal sinus|ethmoidal sinus tumor|tumor of the ethmoid sinus|neoplasm of ethmoid sinus|ethmoid sinus tumor	http://purl.obolibrary.org/obo/MONDO_0001764	http://identifiers.org/snomedct/126677000|UMLS:C0345668|DOID:1364|NCIT:C4416	
MONDO:0013749	biolink:Disease	ventricular septal defect 3	Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene.	OMIM:614432|UMLS:C3280785	mondo.json	NKX2-5 ventricular septal defect (disease)|ventricular septal defect (disease) caused by mutation in NKX2-5|ventricular septal defect type 3|VSD3|ventricular septal defect 3	http://purl.obolibrary.org/obo/MONDO_0013749	UMLS:C3280785|https://omim.org/entry/614432	
MONDO:0037716	biolink:Disease	obsolete rare genetic deafness		Orphanet:96210	mondo.json		http://purl.obolibrary.org/obo/MONDO_0037716	Orphanet:96210	
MONDO:0013747	biolink:Disease	atrioventricular septal defect 4	Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene.	OMIM:614430|UMLS:C3280781	mondo.json	atrioventricular septal defect caused by mutation in GATA4|AVSD4|atrioventricular septal defect 4|GATA4 atrioventricular septal defect|atrioventricular septal defect type 4	http://purl.obolibrary.org/obo/MONDO_0013747	https://omim.org/entry/614430|UMLS:C3280781	
MONDO:0013748	biolink:Disease	ventricular septal defect 2	Any ventricular septal defect in which the cause of the disease is a mutation in the CITED2 gene.	OMIM:614431	mondo.json	ventricular septal defect type 2|VSD2|ventricular septal defect 2|CITED2 ventricular septal defect (disease)|ventricular septal defect (disease) caused by mutation in CITED2	http://purl.obolibrary.org/obo/MONDO_0013748	https://omim.org/entry/614431	
HP:0000518	biolink:PhenotypicFeature	Cataract	A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.	SNOMEDCT_US:128306009|SNOMEDCT_US:193570009|UMLS:C0086543|MSH:D002386|SNOMEDCT_US:247053007|Fyler:4865|UMLS:C1510497	mondo.json	Cloudy lens|Clouding of the lens of the eye|Lens opacity|Cataracts|Lens opacities	http://purl.obolibrary.org/obo/HP_0000518		hposlim_core
HP:0000517	biolink:PhenotypicFeature	Abnormality of the lens	An abnormality of the lens.	UMLS:C0023308|UMLS:C0549651|SNOMEDCT_US:10810001|MSH:D007905	mondo.json	Abnormality of the lens|Lens issue|Lens disease	http://purl.obolibrary.org/obo/HP_0000517		
HGNC:20151	biolink:NamedThing	SLC17A8			mondo.json		http://identifiers.org/hgnc/20151		
HGNC:20153	biolink:NamedThing	CHD8			mondo.json		http://identifiers.org/hgnc/20153		
MONDO:0013752	biolink:Disease	hypoplastic left heart syndrome 2	Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene.	OMIM:614435|MedDRA:10021076|UMLS:C3280795	mondo.json	hypoplastic left heart syndrome caused by mutation in NKX2-5|NKX2-5 hypoplastic left heart syndrome|hypoplastic left heart syndrome 2|HLHS2|hypoplastic left heart syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0013752	https://omim.org/entry/614435|UMLS:C3280795	
MONDO:0013753	biolink:Disease	Charcot-Marie-Tooth disease axonal type 2P	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene.	UMLS:C4304674|OMIM:608591|GARD:0012435|GARD:0009195|SCTID:719511005|UMLS:C1837805|OMIM:614436|OMIM:607706|DOID:0110169|UMLS:C3280797|Orphanet:99941|Orphanet:300319	mondo.json	Charcot Marie Tooth disease type 2G|CMT 2G|autosomal dominant Charcot-Marie-Tooth disease type 2G|Charcot-Marie-Toothe disease, axonal, type 2P|Charcot-Marie-Tooth neuropathy, type 2G|Charcot-Marie-Tooth neuropathy, type 2P|Charcot-Marie-Tooth disease, type 4A, axonal form|Charcot-Marie-Tooth disease type 2P|Charcot-Marie-Tooth disease, axonal, type 2P|Charcot-Marie-Tooth disease caused by mutation in LRSAM1|LRSAM1 Charcot-Marie-Tooth disease|CMT2P|Charcot-Marie-Tooth disease type 2G|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive|Charcot-Marie-Tooth neuropathy type 2P|Charcot-Marie-Tooth disease, axonal, type 2G, formerly|CMT2G|Charcot-Marie-Tooth disease, axonal, type 2G	http://purl.obolibrary.org/obo/MONDO_0013753	Orphanet:99941|UMLS:C4304674|DOID:0110169|Orphanet:300319|UMLS:C1837805|https://omim.org/entry/614436|UMLS:C3280797|https://omim.org/entry/608591|http://identifiers.org/snomedct/719511005	ordo_disease|gard_rare
MONDO:0013750	biolink:Disease	atrial septal defect 8	Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene.	OMIM:614433|DOID:0110113	mondo.json	CITED2 atrial heart septal defect|atrial heart septal defect caused by mutation in CITED2|atrial septal defect type 8|atrial heart septal defect type 8|ASD8|atrial septal defect 8	http://purl.obolibrary.org/obo/MONDO_0013750	DOID:0110113|https://omim.org/entry/614433	
MONDO:0013751	biolink:Disease	cutis laxa, autosomal dominant 2	Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene.	OMIM:614434|UMLS:C3280794	mondo.json	FBLN5 autosomal dominant cutis laxa|autosomal dominant cutis laxa caused by mutation in FBLN5|autosomal dominant cutis laxa 2|ADCL2|cutis laxa, autosomal dominant type 2|cutis laxa, autosomal dominant 2	http://purl.obolibrary.org/obo/MONDO_0013751	https://omim.org/entry/614434|UMLS:C3280794	
MONDO:0013756	biolink:Disease	hypertrophic osteoarthropathy, primary, autosomal recessive, 2	Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene.	UMLS:C3280800|OMIM:614441	mondo.json	hypertrophic osteoarthropathy, primary, autosomal recessive, type 2|PDP, autosomal recessive|PHOAR2|SLCO2A1 primary hypertrophic osteoarthropathy|hypertrophic osteoarthropathy, primary, autosomal recessive, 2|hypertrophic osteoarthropathy, primary, autosomal recessive 2|primary hypertrophic osteoarthropathy caused by mutation in SLCO2A1|pachydermoperiostosis, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0013756	https://omim.org/entry/614441|UMLS:C3280800	
MONDO:0013757	biolink:Disease	congenital nongoitrous hypothryoidism 6	Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene.	DOID:0070128|OMIM:614450|UMLS:C3280817	mondo.json	hypothyroidism, congenital, nongoitrous, type 6|hypothyroidism, congenital, nongoitrous caused by mutation in THRA|hypothyroidism, congenital, nongoitrous, 6|congenital nongoitrous hypothyroidism 6|CHNG6|THRA hypothyroidism, congenital, nongoitrous	http://purl.obolibrary.org/obo/MONDO_0013757	https://omim.org/entry/614450|UMLS:C3280817|DOID:0070128	
MONDO:0013754	biolink:Disease	cutis laxa, autosomal recessive, type 1B	An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.	DOID:0070133|UMLS:C3280798|OMIM:614437	mondo.json	ARCL1B|cutis laxa, autosomal recessive, type IB|autosomal recessive cutis laxa type IB	http://purl.obolibrary.org/obo/MONDO_0013754	https://omim.org/entry/614437|UMLS:C3280798|DOID:0070133	
MONDO:0013755	biolink:Disease	PYCR1-related de Barsy syndrome	Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene.	DOID:0070138|Orphanet:293633|OMIM:614438|UMLS:C3280799	mondo.json	pyrroline-5-carboxylate reductase 1 deficiency|cutis laxa, autosomal recessive, type IIIB|PYCR1 de Barsy syndrome|cutis laxa, autosomal recessive, type 3B|de Barsy syndrome caused by mutation in PYCR1|ARCL3B|autosomal recessive cutis laxa type IIIB|De Barsy syndrome B|PYCR1 deficiency	http://purl.obolibrary.org/obo/MONDO_0013755	https://omim.org/entry/614438|Orphanet:293633|UMLS:C3280799|DOID:0070138	ordo_etiological_subtype
HP:0012503	biolink:PhenotypicFeature	Abnormality of the pituitary gland	An anomaly of the pituitary gland.	SNOMEDCT_US:399244003|UMLS:C0032002|MSH:D010900	mondo.json	disorder of pituitary gland	http://purl.obolibrary.org/obo/HP_0012503		
MONDO:0001759	biolink:Disease	obsolete patent foramen ovale			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001759		
MONDO:0001758	biolink:Disease	paranasal sinus sarcoma	A malignant soft tissue neoplasm that arises from the paranasal sinus.	UMLS:C1335342|NCIT:C6849|DOID:1362	mondo.json	sarcoma of accessory sinus|sarcoma of the paranasal sinus|accessory sinus sarcoma|sarcoma of the accessory sinus|paranasal sinus sarcoma|sarcoma of paranasal sinus	http://purl.obolibrary.org/obo/MONDO_0001758	UMLS:C1335342|NCIT:C6849|DOID:1362	
HGNC:5261	biolink:NamedThing	HSPD1			mondo.json		http://identifiers.org/hgnc/5261		
MONDO:0001757	biolink:Disease	frontal sinus neoplasm	A benign or malignant neoplasm that affects the frontal sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	UMLS:C0345672|SCTID:126678005|NCIT:C4419|DOID:1361	mondo.json	frontal sinus neoplasm (disease)|neoplasm of frontal sinus|frontal sinus tumor|tumor of the frontal sinus|tumor of frontal sinus|neoplasm of the frontal sinus	http://purl.obolibrary.org/obo/MONDO_0001757	NCIT:C4419|http://identifiers.org/snomedct/126678005|UMLS:C0345672|DOID:1361	
NCBITaxon:39744	biolink:OrganismalEntity	Rubulavirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_39744		
MONDO:0001774	biolink:Disease	posterior scleritis		DOID:13676|SCTID:267660007|ICD9:379.07|UMLS:C0155357	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001774	http://identifiers.org/snomedct/267660007|DOID:13676|UMLS:C0155357	
MONDO:0001773	biolink:Disease	post-vaccinal encephalitis	An acute or subacute inflammatory process of the central nervous system characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include confusion, somnolence, fever, nuchal rigidity, and involuntary movements. The illness may progress to coma and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921)	MESH:D004673|SCTID:31367003|UMLS:C0751101|DOID:13664|ICD9:323.51	mondo.json	encephalitis following immunization procedures|postvaccinal encephalomyelitis	http://purl.obolibrary.org/obo/MONDO_0001773	http://identifiers.org/snomedct/31367003|UMLS:C0751101|DOID:13664	
MONDO:0001772	biolink:Disease	ulcer of anus and rectum		ICD10CM:K62.6|DOID:13662|ICD9:569.41	mondo.json	anal and rectal ulcer	http://purl.obolibrary.org/obo/MONDO_0001772	DOID:13662|http://purl.bioontology.org/ontology/ICD10CM/K62.6	
MONDO:0001771	biolink:Disease	infective urethral stricture		SCTID:80375002|DOID:13658|ICD9:598.01|ICD9:136.9|ICD9:598.00	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001771	DOID:13658|http://identifiers.org/snomedct/80375002	
MONDO:0001778	biolink:Disease	dermoid cyst of skin	A benign hamartomatous tumor that possesses various epidermal derivatives and is due to sequestration of skin along the lines of embryonic closure.	DOID:13691|SCTID:276729007|NCIT:C4632|UMLS:C0349502	mondo.json	skin dermoid cyst|skin dermoid|dermoid cyst of skin (finding)|zone of skin dermoid cyst|cystic skin teratoma|subcutaneous dermoid cyst|cutaneous dermoid cyst|dermoid cyst of skin|dermoid cyst of the skin	http://purl.obolibrary.org/obo/MONDO_0001778	DOID:13691|UMLS:C0349502|http://identifiers.org/snomedct/276729007|NCIT:C4632	
MONDO:0001777	biolink:Disease	acute gonococcal cystitis	Acute form of gonococcal cystitis.	UMLS:C0153191|DOID:13690|ICD9:098.11|SCTID:24868007	mondo.json	gonococcal cystitis (acute)|gonococcal cystitis, acute|acute gonorrhea of bladder	http://purl.obolibrary.org/obo/MONDO_0001777	http://identifiers.org/snomedct/24868007|DOID:13690|UMLS:C0153191	
MONDO:0001776	biolink:Disease	prostate calculus	A concretion in the prostate.	ICD10CM:N42.0|SCTID:85324003|DOID:13689|ICD9:602.0|UMLS:C0149525	mondo.json	prostatic stone|prostatic lithiasis|Stone of prostate|lower urinary tract calculus of prostate gland|calculus of prostate|prostate gland lower urinary tract calculus	http://purl.obolibrary.org/obo/MONDO_0001776	http://identifiers.org/snomedct/85324003|http://purl.bioontology.org/ontology/ICD10CM/N42.0|DOID:13689|UMLS:C0149525	
MONDO:0001775	biolink:Disease	chronic duodenal ileus		UMLS:C0156087|ICD9:537.2|DOID:13687|SCTID:52232007	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001775	http://identifiers.org/snomedct/52232007|UMLS:C0156087|DOID:13687	
MONDO:0013738	biolink:Disease	autosomal recessive nonsyndromic hearing loss 96	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1p36.31-p36.13.	OMIM:614414|DOID:0110538	mondo.json	autosomal recessive nonsyndromic deafness 96|autosomal recessive deafness 96|DFNB96|deafness, autosomal recessive 96|autosomal recessive nonsyndromic deafness type 96	http://purl.obolibrary.org/obo/MONDO_0013738	DOID:0110538|https://omim.org/entry/614414	
HP:0000525	biolink:PhenotypicFeature	Abnormality iris morphology	An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil.	UMLS:C4025845	mondo.json	Abnormality of the iris	http://purl.obolibrary.org/obo/HP_0000525		hposlim_core
MONDO:0013739	biolink:Disease	chilblain lupus 2	Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene.	UMLS:C3280721|OMIM:614415	mondo.json	chilblain lupus caused by mutation in SAMHD1|Chilblain lupus type 2|chilblain lupus 2|CHBL2|SAMHD1 chilblain lupus	http://purl.obolibrary.org/obo/MONDO_0013739	UMLS:C3280721|https://omim.org/entry/614415	
MONDO:0013736	biolink:Disease	myopathy, centronuclear, 3	Any autosomal dominant centronuclear myopathy in which the cause of the disease is a mutation in the MYF6 gene.	OMIM:614408|UMLS:C3280703	mondo.json	myopathy, centronuclear, type 3|autosomal dominant centronuclear myopathy caused by mutation in MYF6|MYF6 autosomal dominant centronuclear myopathy|myopathy, centronuclear, 3|CNM3	http://purl.obolibrary.org/obo/MONDO_0013736	https://omim.org/entry/614408	
MONDO:0013737	biolink:Disease	hereditary spastic paraplegia 46	A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.	SCTID:723822009|OMIM:614409|Orphanet:320391|UMLS:C2828721|DOID:0110798|UMLS:C4510081	mondo.json	SPG46|hereditary spastic paraplegia type 46|GBA2 autosomal recessive complex spastic paraplegia|hereditary spastic paraplegia 46|autosomal recessive spastic paraplegia type 46|autosomal recessive complex spastic paraplegia caused by mutation in GBA2|spastic paraplegia 46, autosomal recessive|autosomal recessive spastic paraplegia 46	http://purl.obolibrary.org/obo/MONDO_0013737	UMLS:C4510081|Orphanet:320391|http://identifiers.org/snomedct/723822009|UMLS:C2828721|DOID:0110798|https://omim.org/entry/614409	ordo_disease
HP:0000526	biolink:PhenotypicFeature	Aniridia	Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.	MSH:D015783|SNOMEDCT_US:69278003|UMLS:C0003076	mondo.json	Absent iris	http://purl.obolibrary.org/obo/HP_0000526		hposlim_core
MONDO:0001770	biolink:Disease	gastrin secretion abnormality		SCTID:47344007|DOID:13656|UMLS:C0000774|ICD9:251.5	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001770	UMLS:C0000774|DOID:13656|http://identifiers.org/snomedct/47344007	
HP:0000528	biolink:PhenotypicFeature	Anophthalmia	Absence of the globe or eyeball.	UMLS:C0003119|SNOMEDCT_US:7183006|Fyler:4864|SNOMEDCT_US:204099004|MSH:D000853	mondo.json	Missing globe of eye|Missing eyeball|Absence of eyeballs|Absence of globes of eyes|No eyeball|No globe of eye|Failure of development of eyeball|Ocular absence|Clinical anophthalmia, unilateral/bilateral|Anophthalmia, clinical	http://purl.obolibrary.org/obo/HP_0000528		hposlim_core
MONDO:0013741	biolink:Disease	familial temporal lobe epilepsy 5	A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13.	UMLS:C3280730|DOID:0060752|OMIM:614417	mondo.json	ETL5|familial temporal lobe epilepsy type 5|epilepsy, familial temporal lobe, 5|epilepsy, familial temporal lobe, type 5	http://purl.obolibrary.org/obo/MONDO_0013741	https://omim.org/entry/614417|DOID:0060752|UMLS:C3280730	
MONDO:0013742	biolink:Disease	familial mesial temporal lobe epilepsy with febrile seizures		Orphanet:165805	mondo.json	febrile seizures, familial, type 11|febrile seizures, familial, 11|FEB11	http://purl.obolibrary.org/obo/MONDO_0013742	Orphanet:165805	ordo_disease
MONDO:0013740	biolink:Disease	lethal occipital encephalocele-skeletal dysplasia syndrome	Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.	OMIM:614416|UMLS:C3280729|Orphanet:293925	mondo.json	craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies|RHFCA|radiohumeral fusions with other skeletal and craniofacial anomalies	http://purl.obolibrary.org/obo/MONDO_0013740	https://omim.org/entry/614416|UMLS:C3280729|Orphanet:293925	ordo_malformation_syndrome
MONDO:0013745	biolink:Disease	Joubert syndrome 14	Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene.	OMIM:614424|Orphanet:220497|DOID:0110983|UMLS:C3280766	mondo.json	Joubert syndrome type 14|TMEM237 Joubert syndrome|Joubert syndrome 14|JBTS14|Joubert syndrome caused by mutation in TMEM237	http://purl.obolibrary.org/obo/MONDO_0013745	https://omim.org/entry/614424|DOID:0110983|UMLS:C3280766	
HP:0000520	biolink:PhenotypicFeature	Proptosis	An eye that is protruding anterior to the plane of the face to a greater extent than is typical.	UMLS:C1862425|UMLS:C1848490|UMLS:C0015300|SNOMEDCT_US:18265008|MSH:D005094|UMLS:C1837760	mondo.json	Protrusio bulbi|Anterior bulging of the globe of eye|Eyeballs bulging out|Exophthalmos|Bulging eye|Ocular proptosis|Anterior bulging of the globe|Prominent globes|Prominent eyes|Protruding eyes	http://purl.obolibrary.org/obo/HP_0000520		hposlim_core
MONDO:0037735	biolink:Disease	sebaceous gland cancer	A cancer that involves the sebaceous gland.	UMLS:C1382026|NCIT:C8409	mondo.json	malignant sebaceous neoplasm|malignant sebaceous gland neoplasm|malignant neoplasm of sebaceous gland|malignant neoplasm of the sebaceous gland|malignant sebaceous gland tumor|malignant sebaceous tumor|cancer of sebaceous gland|malignant tumor of the sebaceous gland|malignant tumor of sebaceous gland	http://purl.obolibrary.org/obo/MONDO_0037735	NCIT:C8409|UMLS:C1382026	
MONDO:0013746	biolink:Disease	ventricular septal defect 1	Any ventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene.	UMLS:C3280777|OMIM:614429	mondo.json	VSD1|ventricular septal defect 1|GATA4 ventricular septal defect (disease)|ventricular septal defect (disease) caused by mutation in GATA4|ventricular septal defect type 1	http://purl.obolibrary.org/obo/MONDO_0013746	https://omim.org/entry/614429|UMLS:C3280777	
MONDO:0013743	biolink:Disease	autosomal systemic lupus erythematosus type 16	An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3.	Orphanet:300345|UMLS:C3280742|OMIM:614420	mondo.json	SLEB16|familial systemic lupus erythematosus|familial SLE|autosomal SLE|systemic lupus erythematosus type 16|systemic lupus erythematosus 16	http://purl.obolibrary.org/obo/MONDO_0013743	Orphanet:300345|https://omim.org/entry/614420|UMLS:C3280742	ordo_disease
MONDO:0037736	biolink:Disease	infratentorial neoplasm	A benign or malignant neoplasm that occurs in brain parenchymal tissue below the tentorium cerebelli.	NCIT:C3139	mondo.json	infratentorial neoplasm|infratentorial tumors|neoplasms, infratentorial|infratentorial tumor|infratentorial neoplasms|brain neoplasms, infratentorial	http://purl.obolibrary.org/obo/MONDO_0037736	NCIT:C3139	
MONDO:0037737	biolink:Disease	peritoneal solitary fibrous tumor	A rare, usually benign fibroblastic neoplasm that arises from the peritoneum. It is characterized by the presence of prominent hemangiopericytoma-like vessels.	NCIT:C126357|UMLS:C4288403	mondo.json	peritoneal solitary fibrous tumor	http://purl.obolibrary.org/obo/MONDO_0037737	NCIT:C126357|UMLS:C4288403	
MONDO:0013744	biolink:Disease	cataract 37	A cataract that has material basis in variation in the region 12q24.2-q24.3.	DOID:0110252|UMLS:C3280758|OMIM:614422	mondo.json	cataract, congenital, cerulean type, 5|cataract 37|CTRCT37|cataract type 37|CCA5|cataract 37, autosomal dominant|congenital cataract cerulean type 5	http://purl.obolibrary.org/obo/MONDO_0013744	DOID:0110252|https://omim.org/entry/614422|UMLS:C3280758	
HP:0000522	biolink:PhenotypicFeature	Alacrima	Absence of tear secretion.	SNOMEDCT_US:253215004|MSH:C562827|UMLS:C0344505	mondo.json	Absent lacrimal fluids|Absent tear secretion|Absence of tears in the eyes	http://purl.obolibrary.org/obo/HP_0000522		hposlim_core
MONDO:0001769	biolink:Disease	acquired tear duct stenosis		ICD9:375.56|DOID:13655|SCTID:193995004	mondo.json	acquired stenosis of nasolacrimal duct|stenosis of nasolacrimal duct, acquired|acquired nasolacrimal duct stenosis|tear duct - acquired stenosis	http://purl.obolibrary.org/obo/MONDO_0001769	DOID:13655|http://identifiers.org/snomedct/193995004	
HGNC:5273	biolink:NamedThing	HSPG2			mondo.json		http://identifiers.org/hgnc/5273		
MONDO:0001768	biolink:Disease	stenosis of lacrimal passage		ICD9:375.53|SCTID:81345003|DOID:13654	mondo.json	stenosis of lacrimal canaliculi	http://purl.obolibrary.org/obo/MONDO_0001768	http://identifiers.org/snomedct/81345003|DOID:13654	
MONDO:0001741	biolink:Disease	hyperparathyroidism	Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes.	ICD9:252.00|ICD9:252.0|SCTID:66999008|EFO:0008506|NCIT:C48259|MESH:D006961|UMLS:C0020502|DOID:13543	mondo.json	hyperparathyroidism	http://purl.obolibrary.org/obo/MONDO_0001741	UMLS:C0020502|NCIT:C48259|http://identifiers.org/snomedct/66999008|DOID:13543|http://identifiers.org/mesh/D006961	
NCBITaxon:39733	biolink:OrganismalEntity	Astroviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_39733		
MONDO:0001740	biolink:Disease	cornea squamous cell carcinoma	A rare squamous cell carcinoma that arises from the cornea.	NCIT:C4552|SCTID:255008003|DOID:13538|UMLS:C0346366	mondo.json	cornea epidermoid carcinoma|epidermoid carcinoma of the cornea|corneal epidermoid carcinoma|squamous cell carcinoma of the cornea|cornea squamous cell carcinoma|squamous cell carcinoma of cornea|corneal squamous cell carcinoma|epidermoid carcinoma of cornea	http://purl.obolibrary.org/obo/MONDO_0001740	UMLS:C0346366|DOID:13538|http://identifiers.org/snomedct/255008003|NCIT:C4552	
HGNC:20134	biolink:NamedThing	GLRX5			mondo.json		http://identifiers.org/hgnc/20134		
HGNC:19141	biolink:NamedThing	TTBK2			mondo.json		http://identifiers.org/hgnc/19141		
MONDO:0025712	biolink:Disease	angioedema, hereditary, 4		OMIM:619360	mondo.json	HAE4	http://purl.obolibrary.org/obo/MONDO_0025712	https://omim.org/entry/619360	
MONDO:0001745	biolink:Disease	subserous uterine fibroid		SCTID:95280005|DOID:13560|ICD9:218.2|UMLS:C0153995	mondo.json	subserous leiomyoma of uterus	http://purl.obolibrary.org/obo/MONDO_0001745	UMLS:C0153995|http://identifiers.org/snomedct/95280005|DOID:13560	
MONDO:0001744	biolink:Disease	angle-closure glaucoma	The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity.	DOID:13550|SCTID:392291006|UMLS:C0017605|MESH:D015812	mondo.json	primary open-angle glaucoma with narrow angles|angle closure glaucoma|ACG - angle-closure glaucoma|Narrow cleft glaucoma	http://purl.obolibrary.org/obo/MONDO_0001744	UMLS:C0017605|http://identifiers.org/mesh/D015812|DOID:13550|http://identifiers.org/snomedct/392291006	
MONDO:0001743	biolink:Disease	paranasal sinus lymphoma	A lymphoma that arises from the paranasal sinus. Representative examples include diffuse large B-cell lymphoma and extranodal NK/T-cell lymphoma, nasal type.	NCIT:C6068|UMLS:C1335339|DOID:1355	mondo.json	primary paranasal sinus lymphoma|lymphoma of the accessory sinus|lymphoma of accessory sinus|accessory sinus lymphoma|paranasal sinus lymphoma|lymphoma of the paranasal sinus|lymphoma of paranasal sinus	http://purl.obolibrary.org/obo/MONDO_0001743	UMLS:C1335339|NCIT:C6068|DOID:1355	
MONDO:0001742	biolink:Disease	interval angle-closure glaucoma		UMLS:C0154945|DOID:13549|SCTID:65460003|ICD9:365.21	mondo.json	prodromal angle closure glaucoma|angle-closure glaucoma, subacute|intermittent angle-closure glaucoma	http://purl.obolibrary.org/obo/MONDO_0001742	UMLS:C0154945|DOID:13549|http://identifiers.org/snomedct/65460003	
MONDO:0025713	biolink:Disease	angioedema, hereditary, 7		OMIM:619366	mondo.json	HAE7	http://purl.obolibrary.org/obo/MONDO_0025713	https://omim.org/entry/619366	
MONDO:0013727	biolink:Disease	pregnancy loss, recurrent, susceptibility to, 1	Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F5 gene.	EFO:0008899|OMIM:614389	mondo.json	abortion, spontaneous, recurrent|Rpl|fetal loss, recurrent, susceptibility to|pregnancy loss, recurrent, susceptibility to, 1|F5 pregnancy loss, recurrent, susceptibility|stillbirth, recurrent|Rprgl|embryonic loss, recurrent|miscarriage, recurrent|pregnancy loss, recurrent, susceptibility to, type 1|RPRGL1|pregnancy loss, recurrent, susceptibility caused by mutation in F5	http://purl.obolibrary.org/obo/MONDO_0013727	https://omim.org/entry/614389	predisposition
MONDO:0037738	biolink:Disease	cauda equina cancer	A cancer that involves the cauda equina.	UMLS:C0349017|SCTID:363477002	mondo.json	cancer of cauda equina|malignant cauda equina neoplasm|malignant neoplasm of cauda equina	http://purl.obolibrary.org/obo/MONDO_0037738	http://identifiers.org/snomedct/363477002|UMLS:C0349017	
MONDO:0013728	biolink:Disease	pregnancy loss, recurrent, susceptibility to, 2	Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F2 gene.	OMIM:614390	mondo.json	pregnancy loss, recurrent, susceptibility caused by mutation in F2|RPRGL2|F2 pregnancy loss, recurrent, susceptibility|pregnancy loss, recurrent, susceptibility to, 2|pregnancy loss, recurrent, susceptibility to, type 2	http://purl.obolibrary.org/obo/MONDO_0013728	https://omim.org/entry/614390	predisposition
MONDO:0037739	biolink:Disease	benign neoplasm of cauda equina	A benign neoplasm that involves the cauda equina.	SCTID:92047003|UMLS:C0686404	mondo.json	benign neoplasm of cauda equina	http://purl.obolibrary.org/obo/MONDO_0037739	http://identifiers.org/snomedct/92047003|UMLS:C0686404	
MONDO:0013725	biolink:Disease	colorectal cancer, hereditary nonpolyposis, type 7	Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene.	OMIM:614385|MESH:C565777|UMLS:C1858380|DOID:0070276	mondo.json	colorectal cancer, hereditary nonpolyposis, type 7|MLH3 hereditary nonpolyposis colon cancer|HNPCC7|hereditary nonpolyposis colon cancer caused by mutation in MLH3	http://purl.obolibrary.org/obo/MONDO_0013725	DOID:0070276|UMLS:C1858380|http://identifiers.org/mesh/C565777|https://omim.org/entry/614385	
MONDO:0013726	biolink:Disease	encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1		UMLS:C3280660|Orphanet:330050|DOID:0070347|OMIM:614388	mondo.json	EMPF1|encephalopathy due to defective mitochondrial and peroxisomal fission 1|lethal encephalopathy due to mitochondrial and peroxisomal fission defect|encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission|EMPF|DNM1L-associated encephalopathy due to peroxisomal and mitochondrial fission defect|encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	http://purl.obolibrary.org/obo/MONDO_0013726	UMLS:C3280660|DOID:0070347|Orphanet:330050|https://omim.org/entry/614388	ordo_disease
MONDO:0013729	biolink:Disease	pregnancy loss, recurrent, susceptibility to, 3	Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the ANXA5 gene.	OMIM:614391	mondo.json	pregnancy loss, recurrent, susceptibility to, type 3|RPRGL3|ANXA5 pregnancy loss, recurrent, susceptibility|pregnancy loss, recurrent, susceptibility caused by mutation in ANXA5|pregnancy loss, recurrent, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0013729	https://omim.org/entry/614391	predisposition
MONDO:0013730	biolink:Disease	graft versus host disease	Acute graft-versus-host disease (GVHD) occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen.	UMLS:C0018133|ICD9:279.50|SCTID:234646005|NCIT:C3063|Orphanet:39812|MESH:D006086|MedDRA:10018651|OMIM:614395	mondo.json	graft-VS-host diseases|graft-versus-host disease, resistance to|GVH|homologous wasting disease|diseases, graft-VS-host|graft-versus-host disease|diseases, graft-versus-host|graft VS. host disease|graft-versus-host disease, protection against|disease, graft-VS-host|graft versus host disease|graft-versus-host-disease|runt disease|graft-versus-host disease, susceptibility to|disease, graft-versus-host|graft VS host disease|graft-VS-host disease|GVHD|GVHDS|graft-versus-host diseases|disease, runt|disease, homologous wasting	http://purl.obolibrary.org/obo/MONDO_0013730	http://identifiers.org/snomedct/234646005|http://identifiers.org/mesh/D006086|Orphanet:39812|UMLS:C0018133|https://omim.org/entry/614395|NCIT:C3063	ordo_disease
MONDO:0013731	biolink:Disease	MEGF10-Related Myopathy		Orphanet:439212|UMLS:C3280679|OMIM:614399|GARD:0012199|DOID:0111333	mondo.json	myopathy, areflexia, respiratory distress, and dysphagia, early-onset|early-onset myopathy, areflexia, respiratory distress and dysphagia|A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy.|MEGF10 Myopathy|MEGF10-Related Myopathy|EMARDD|early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome|myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant	http://purl.obolibrary.org/obo/MONDO_0013731	DOID:0111333|https://omim.org/entry/614399|UMLS:C3280679|Orphanet:439212	ordo_disease
MONDO:0037742	biolink:Disease	endometrioid stromal and related neoplasms	A category of mesenchymal gynecologic neoplasms. It includes endometrial stromal nodule, endometrioid stromal sarcoma, and undifferentiated sarcoma. Endometrial stromal nodule has been described in the uterine corpus only. Histologically, it is characterized by the lack of infiltration of the surrounding tissues. Endometrioid stromal sarcoma affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. Undifferentiated sarcoma was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm that affects the uterine corpus only. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. The latter affects the uterine corpus and rarely the remainder of the anatomic sites.	UMLS:C4287868|NCIT:C8384	mondo.json	endometrioid stromal and related tumors|endometrioid stromal and related neoplasms	http://purl.obolibrary.org/obo/MONDO_0037742	NCIT:C8384|UMLS:C4287868	
MONDO:0037743	biolink:Disease	mediastinal soft tissue cancer	A malignant neoplasm that arises from the soft tissues of the mediastinum.	UMLS:C1334599|NCIT:C6642	mondo.json	malignant soft tissue tumor of the mediastinum|malignant mediastinal mesenchymal tumor|malignant soft tissue tumor of mediastinum|mediastinal mesenchymal tumor, malignant|malignant mediastinal soft tissue tumor|malignant soft tissue neoplasm of the mediastinum|malignant soft tissue neoplasm of mediastinum|malignant mediastinal soft tissue neoplasm	http://purl.obolibrary.org/obo/MONDO_0037743	NCIT:C6642|UMLS:C1334599	
MONDO:0037744	biolink:Disease	neoplasm of retromolar area		SCTID:126804008|UMLS:C0345590	mondo.json	neoplasm of retromolar area|tumor of retromolar area	http://purl.obolibrary.org/obo/MONDO_0037744	http://identifiers.org/snomedct/126804008|UMLS:C0345590	
MONDO:0013734	biolink:Disease	microphthalmia, syndromic 11	Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene.	OMIM:614402|UMLS:C3553077	mondo.json	microphthalmia, syndromic type 11|microphthalmia, syndromic 11|VAX1 syndromic microphthalmia|MCOPS11|syndromic microphthalmia caused by mutation in VAX1	http://purl.obolibrary.org/obo/MONDO_0013734	UMLS:C3553077|https://omim.org/entry/614402	
MONDO:0037745	biolink:Disease	fibromyxoid tumor	A soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle-shaped to round cells in a fibromyxoid stroma. Metaplastic bone formation may or may not be present.	ICDO:8811/0|NCIT:C66760	mondo.json	fibromyxoma|fibromyxoid neoplasm|fibromyxoma, benign|fibromyxoid tumor	http://purl.obolibrary.org/obo/MONDO_0037745	NCIT:C66760	
MONDO:0037746	biolink:Disease	malignant vaginal mixed epithelial and mesenchymal neoplasm	A malignant neoplasm that arises from the vagina and is characterized by the presence of an epithelial and a mesenchymal component. This category includes adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma.	UMLS:C1512974|NCIT:C40276	mondo.json	malignant vaginal mixed epithelial and mesenchymal neoplasm|malignant vaginal mixed epithelial and mesenchymal tumor	http://purl.obolibrary.org/obo/MONDO_0037746	UMLS:C1512974|NCIT:C40276	
MONDO:0013735	biolink:Disease	microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern.	OMIM:614407|UMLS:C3280692|Orphanet:329332	mondo.json	microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome|Zaki-Gleeson syndrome|MCHCCD|microcephaly, cerebellar hypoplasia, and CARDIAC conduction defect syndrome	http://purl.obolibrary.org/obo/MONDO_0013735	Orphanet:329332|https://omim.org/entry/614407|UMLS:C3280692	ordo_malformation_syndrome
MONDO:0037747	biolink:Disease	spinal injury	A injury that involves the vertebral column.	MESH:D013124|SCTID:262521009	mondo.json	injury of vertebral column|vertebral column injury	http://purl.obolibrary.org/obo/MONDO_0037747	http://identifiers.org/mesh/D013124|http://identifiers.org/snomedct/262521009	
MONDO:0013732	biolink:Disease	glucocorticoid therapy, response to		OMIM:614400	mondo.json	glucocorticoid therapy, response to|GCTR	http://purl.obolibrary.org/obo/MONDO_0013732	https://omim.org/entry/614400	
MONDO:0037748	biolink:Disease	hyperlipoproteinemia	An elevated concentration of lipoproteins.	UMLS:C0020476|NCIT:C34709|MESH:D006951|HP:0010980	mondo.json	hyperlipoproteinemia	http://purl.obolibrary.org/obo/MONDO_0037748	NCIT:C34709|http://identifiers.org/mesh/D006951|UMLS:C0020476	
MONDO:0013733	biolink:Disease	obsolete accelerated tumor formation, susceptibility to		OMIM:614401	mondo.json	ACTFS|accelerated tumor formation, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0013733	https://omim.org/entry/614401	
MONDO:0001738	biolink:Disease	obsolete osteopetrosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001738		
MONDO:0001737	biolink:Disease	tetanus neonatorum	A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production.	DOID:13521|ICD9:771.3|NCIT:C116814|ICD10CM:A33|UMLS:C0343312|SCTID:43424001	mondo.json	neonatal tetanus	http://purl.obolibrary.org/obo/MONDO_0001737	http://purl.bioontology.org/ontology/ICD10CM/A33|http://identifiers.org/snomedct/43424001|UMLS:C0343312|NCIT:C116814|DOID:13521	
MONDO:0001736	biolink:Disease	neonatal infective mastitis		ICD9:771.5|ICD10CM:P39.0|UMLS:C0158948|DOID:13520|SCTID:3468005	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001736	http://identifiers.org/snomedct/3468005|http://purl.bioontology.org/ontology/ICD10CM/P39.0|UMLS:C0158948|DOID:13520	
MONDO:0001735	biolink:Disease	paranasal sinus disorder	A disease involving the paranasal sinus.	NCIT:C26843|MESH:D010254|UMLS:C0030469|ICD9:478.1|SCTID:7393007|DOID:1352	mondo.json	disease of paranasal sinus|paranasal sinus disease or disorder|disorder of nasal sinus|paranasal sinus disorder|disorder of paranasal sinus|sinus disorder|disease or disorder of paranasal sinus|paranasal sinus disease	http://purl.obolibrary.org/obo/MONDO_0001735	DOID:1352|NCIT:C26843|UMLS:C0030469|http://identifiers.org/snomedct/7393007|http://identifiers.org/mesh/D010254	
HGNC:5285	biolink:NamedThing	HTOR			mondo.json		http://identifiers.org/hgnc/5285		
MONDO:0025708	biolink:Disease	megacystis-microcolon-intestinal hypoperistalsis syndrome 2		OMIM:619351	mondo.json	MMIHS2	http://purl.obolibrary.org/obo/MONDO_0025708	https://omim.org/entry/619351	
HGNC:5286	biolink:NamedThing	HTR1A			mondo.json		http://identifiers.org/hgnc/5286		
MONDO:0037740	biolink:Disease	malignant central nervous system mesenchymal, non-meningothelial neoplasm	A metastasizing mesenchymal, non-meningothelial neoplasm that arises from the central nervous system.	NCIT:C6758|UMLS:C1334571	mondo.json	malignant central nervous system mesenchymal, non-meningothelial tumor|malignant soft tissue tumor of central nervous system|malignant soft tissue tumor of the central nervous system|malignant soft tissue tumor of the CNS|soft tissue cancer of central nervous system|malignant soft tissue tumor of CNS|malignant CNS soft tissue neoplasm|soft tissue cancer of the central nervous system|malignant central nervous system soft tissue tumor|malignant soft tissue neoplasm of the CNS|malignant central nervous system soft tissue neoplasm|malignant soft tissue neoplasm of CNS|malignant CNS soft tissue tumor|malignant central nervous system mesenchymal non-meningothelial tumor|malignant soft tissue neoplasm of central nervous system|central nervous system mesenchymal non-meningothelial tumor, malignant|malignant soft tissue neoplasm of the central nervous system|malignant central nervous system mesenchymal, non-meningothelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0037740	NCIT:C6758|UMLS:C1334571	
MONDO:0001739	biolink:Disease	purulent labyrinthitis	A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma.	UMLS:C0155506|DOID:13534|SCTID:24817009|ICD9:386.33	mondo.json	acute suppurative labyrinthitis|suppurative labyrinthitis|bacterial labyrinthitis	http://purl.obolibrary.org/obo/MONDO_0001739	UMLS:C0155506|http://identifiers.org/snomedct/24817009|DOID:13534	
MONDO:0001752	biolink:Disease	alveolar periostitis	A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed)	ICD9:526.5|MESH:D004368|UMLS:C0013240|SCTID:61804006|DOID:13585	mondo.json	alveolitis of jaw|jaw skeleton extrinsic allergic alveolitis|dry socket|extrinsic allergic alveolitis of jaw skeleton|dry tooth socket	http://purl.obolibrary.org/obo/MONDO_0001752	UMLS:C0013240|DOID:13585|http://identifiers.org/snomedct/61804006|http://identifiers.org/mesh/D004368	
MONDO:0001751	biolink:Disease	cholestasis	Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system.	DOID:13580|ICD9:576.2|MESH:D002779|UMLS:C0008370|SCTID:30144000	mondo.json	obstruction of bile duct|bile occlusion	http://purl.obolibrary.org/obo/MONDO_0001751	http://identifiers.org/mesh/D002779|http://identifiers.org/snomedct/30144000|UMLS:C0008370|DOID:13580	
NCBITaxon:39724	biolink:OrganismalEntity	Circoviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_39724		
HGNC:20145	biolink:NamedThing	GPR143			mondo.json		http://identifiers.org/hgnc/20145		
MONDO:0001750	biolink:Disease	non-renal secondary hyperparathyroidism		ICD9:252.02|DOID:13575	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001750	DOID:13575	
NCBITaxon:39725	biolink:OrganismalEntity	Circovirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_39725		
MONDO:0001756	biolink:Disease	frontal sinus cancer	A malignant neoplasm involving the frontal sinus.	SCTID:363427000|UMLS:C0153478|NCIT:C3542|ICD9:160.4|DOID:1360|ICD10CM:C31.2	mondo.json	malignant frontal sinus neoplasm|malignant tumor of the frontal sinus|malignant neoplasm of the frontal sinus|malignant frontal sinus tumor|malignant tumor of frontal sinus|cancer of frontal sinus|frontal sinus cancer|malignant neoplasm of frontal sinus	http://purl.obolibrary.org/obo/MONDO_0001756	UMLS:C0153478|NCIT:C3542|http://purl.bioontology.org/ontology/ICD10CM/C31.2|DOID:1360|http://identifiers.org/snomedct/363427000	
MONDO:0025701	biolink:Disease	leukodystrophy, hypomyelinating, 22		OMIM:619328	mondo.json	HLD22	http://purl.obolibrary.org/obo/MONDO_0025701	https://omim.org/entry/619328	
MONDO:0001755	biolink:Disease	obsolete vaginal carcinosarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001755		
MONDO:0001754	biolink:Disease	eclampsia	A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures.	ICD9:642.64|MESH:D004461|DOID:13593|ICD10CM:O15|GARD:0006316|NCIT:C87167|UMLS:C0013537|SCTID:303063000|UMLS:C0156678	mondo.json	eclampsia, postpartum|eclampsia in puerperium|postpartum eclampsia	http://purl.obolibrary.org/obo/MONDO_0001754	UMLS:C0013537|http://identifiers.org/snomedct/303063000|NCIT:C87167|DOID:13593|UMLS:C0156678|http://purl.bioontology.org/ontology/ICD10CM/O15|http://identifiers.org/mesh/D004461	gard_rare
MONDO:0001753	biolink:Disease	female infertility of uterine origin		ICD10CM:N97.2|ICD9:628.3|DOID:13589|SCTID:26899006	mondo.json	infertility, female, of uterine origin	http://purl.obolibrary.org/obo/MONDO_0001753	http://identifiers.org/snomedct/26899006|DOID:13589|http://purl.bioontology.org/ontology/ICD10CM/N97.2	
MONDO:0013716	biolink:Disease	aortic aneurysm, familial abdominal, 4		UMLS:C3280597|OMIM:614375	mondo.json	AAA4|aortic aneurysm, familial abdominal, 4	http://purl.obolibrary.org/obo/MONDO_0013716	https://omim.org/entry/614375|UMLS:C3280597	
MONDO:0013717	biolink:Disease	asphyxiating thoracic dystrophy 5	Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene.	UMLS:C3280598|OMIM:614376|DOID:0110089	mondo.json	ATD5|asphyxiating thoracic dystrophy type 5|asphyxiating thoracic dystrophy 5|Jeune syndrome caused by mutation in WDR19|SRTD5|WDR19 Jeune syndrome|short-rib thoracic dysplasia 5 with or without polydactyly	http://purl.obolibrary.org/obo/MONDO_0013717	https://omim.org/entry/614376|UMLS:C3280598|DOID:0110089	
HP:0000502	biolink:PhenotypicFeature	Abnormal conjunctiva morphology	An abnormality of the conjunctiva.	UMLS:C4025847	mondo.json		http://purl.obolibrary.org/obo/HP_0000502		hposlim_core
HP:0000505	biolink:PhenotypicFeature	Visual impairment	Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.	UMLS:C0042798|MSH:D014786|SNOMEDCT_US:246635007|SNOMEDCT_US:397540003|UMLS:C3665347|MSH:D015354|SNOMEDCT_US:7973008	mondo.json	Visual impairment|Impaired vision|Loss of eyesight|Poor vision	http://purl.obolibrary.org/obo/HP_0000505		hposlim_core
MONDO:0013714	biolink:Disease	mannose-binding lectin deficiency		OMIM:614372|MESH:C563602|ICD9:279.19|SCTID:703538003|UMLS:C3280586	mondo.json	mannose-binding protein deficiency|lectin complement activation pathway, defect in, 1|mannose-binding lectin deficiency|MBL deficiency|MBL2 deficiency|MBLD|MBP deficiency	http://purl.obolibrary.org/obo/MONDO_0013714	https://omim.org/entry/614372|http://identifiers.org/mesh/C563602|UMLS:C3280586|http://identifiers.org/snomedct/703538003	
HP:0000504	biolink:PhenotypicFeature	Abnormality of vision	Abnormality of eyesight (visual perception).	UMLS:C4025846	mondo.json	Abnormality of vision|Abnormality of sight|Vision issue	http://purl.obolibrary.org/obo/HP_0000504		hposlim_core
MONDO:0013715	biolink:Disease	amyotrophic lateral sclerosis type 16	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene.	DOID:0060207|OMIM:614373|UMLS:C3280587	mondo.json	amyotrophic lateral sclerosis caused by mutation in SIGMAR1|amyotrophic lateral sclerosis 16, juvenile|ALS16|SIGMAR1 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 16	http://purl.obolibrary.org/obo/MONDO_0013715	DOID:0060207|https://omim.org/entry/614373|UMLS:C3280587	
MONDO:0013718	biolink:Disease	nephronophthisis 13	A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.	UMLS:C3280612|OMIM:614377|DOID:0111121	mondo.json	nephronophthisis type 13|NPHP13|nephronophthisis 13	http://purl.obolibrary.org/obo/MONDO_0013718	https://omim.org/entry/614377|UMLS:C3280612|DOID:0111121	
HP:0000509	biolink:PhenotypicFeature	Conjunctivitis	Inflammation of the conjunctiva.	UMLS:C1864156|UMLS:C0009763|SNOMEDCT_US:9826008|MSH:D003231	mondo.json	Pink eye|Conjunctivitis, recurrent	http://purl.obolibrary.org/obo/HP_0000509		hposlim_core
HP:0000508	biolink:PhenotypicFeature	Ptosis	The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).	MSH:D001763|SNOMEDCT_US:11934000|UMLS:C0005745	mondo.json	Eye drop|Drooping upper eyelid|Blepharoptosis|Eyelid ptosis	http://purl.obolibrary.org/obo/HP_0000508		hposlim_core
MONDO:0013719	biolink:Disease	cranioectodermal dysplasia 4		OMIM:614378|UMLS:C3280616	mondo.json	cranioectodermal dysplasia type 4|CED4|cranioectodermal dysplasia 4	http://purl.obolibrary.org/obo/MONDO_0013719	https://omim.org/entry/614378|UMLS:C3280616	
MONDO:0013720	biolink:Disease	complement component 4b deficiency	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene.	UMLS:C3280641|OMIM:614379|DOID:0060298	mondo.json	complement component 4B deficiency|complement component 4b deficiency|C4B classic complement early component deficiency|C4B deficiency|classic complement early component deficiency caused by mutation in C4B|C4BD	http://purl.obolibrary.org/obo/MONDO_0013720	DOID:0060298|https://omim.org/entry/614379|UMLS:C3280641	
MONDO:0013723	biolink:Disease	bacteremia, susceptibility to, 1	Any bacteremia, susceptibility in which the cause of the disease is a mutation in the TIRAP gene.	OMIM:614382	mondo.json	bacteremia, susceptibility to, type 1|bacteremia, resistance to|bacteremia, susceptibility caused by mutation in TIRAP|bacteremia, protection against|bacteremia, susceptibility to, 1|TIRAP bacteremia, susceptibility|BACTS1	http://purl.obolibrary.org/obo/MONDO_0013723	https://omim.org/entry/614382	predisposition
MONDO:0013724	biolink:Disease	bacteremia, susceptibility to, 2	Any bacteremia, susceptibility in which the cause of the disease is a mutation in the CISH gene.	OMIM:614383	mondo.json	bacteremia, susceptibility to, type 2|bacteremia, susceptibility caused by mutation in CISH|bacteremia, susceptibility to|bacteremia, susceptibility to, 2|CISH bacteremia, susceptibility|BACTS2	http://purl.obolibrary.org/obo/MONDO_0013724	https://omim.org/entry/614383	predisposition
MONDO:0013721	biolink:Disease	complement component 4a deficiency	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene.	OMIM:614380|UMLS:C3280642|MESH:C565167|DOID:0060297	mondo.json	complement component 4A deficiency|complement component 4a deficiency|C4A classic complement early component deficiency|C4AD|classic complement early component deficiency caused by mutation in C4A|C4A deficiency	http://purl.obolibrary.org/obo/MONDO_0013721	UMLS:C3280642|http://identifiers.org/mesh/C565167|DOID:0060297|https://omim.org/entry/614380	
HP:0000501	biolink:PhenotypicFeature	Glaucoma	Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.	SNOMEDCT_US:23986001|MSH:D005901|UMLS:C0017601	mondo.json		http://purl.obolibrary.org/obo/HP_0000501		hposlim_core
MONDO:0013722	biolink:Disease	hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene.	GARD:0001195|UMLS:C3280644|OMIM:213002|Orphanet:85186|DOID:0060797|UMLS:C1859301|OMIM:614381|MESH:C535353	mondo.json	HLD8|endosteal sclerosis-cerebellar hypoplasia syndrome|POLR3B leukodystrophy|leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism|cerebellar hypoplasia with endosteal sclerosis|leukodystrophy caused by mutation in POLR3B	http://purl.obolibrary.org/obo/MONDO_0013722	UMLS:C3280644|UMLS:C1859301|Orphanet:85186|http://identifiers.org/mesh/C535353|https://omim.org/entry/614381|DOID:0060797	ordo_malformation_syndrome
MONDO:0001749	biolink:Disease	cortical senile cataract	A senile cataract that involves the lens cortex.	ICD9:366.15|DOID:13574|UMLS:C0154980|SCTID:78875003	mondo.json	lens cortex senile cataract|senile cataract of lens cortex|cortical senile cataract	http://purl.obolibrary.org/obo/MONDO_0001749	UMLS:C0154980|http://identifiers.org/snomedct/78875003|DOID:13574	
MONDO:0001748	biolink:Disease	maxillary sinus carcinoma	A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma.	NCIT:C3540|SCTID:363425008|ICD9:160.2|NCIT:C9332|DOID:1357	mondo.json	cancer of maxillary sinus|maxillary sinus carcinoma|malignant neoplasm of maxillary sinus|malignant neoplasm of the maxillary sinus|malignant maxillary sinus tumor|malignant tumor of the maxillary sinus|maxillary sinus cancer|malignant neoplasm of antrum|malignant tumor of maxillary sinus|carcinoma of maxillary sinus|malignant maxillary sinus neoplasm	http://purl.obolibrary.org/obo/MONDO_0001748	DOID:1357|NCIT:C3540|http://identifiers.org/snomedct/363425008|NCIT:C9332	
HGNC:5293	biolink:NamedThing	HTR2A			mondo.json		http://identifiers.org/hgnc/5293		
MONDO:0001747	biolink:Disease	tibial collateral ligament bursitis		DOID:13566|ICD9:726.62|UMLS:C0158315|SCTID:44245003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001747	http://identifiers.org/snomedct/44245003|UMLS:C0158315|DOID:13566	
MONDO:0001746	biolink:Disease	optic disk drusen	Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated intracranial hypertension) and visual field deficits. Drusen may also occur in the retina (see retinal drusen). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355)	MESH:D015594|SCTID:33629003|DOID:13561|ICD9:377.21|UMLS:C0029128	mondo.json	optic nerve head drusen|drusen of optic disc	http://purl.obolibrary.org/obo/MONDO_0001746	UMLS:C0029128|http://identifiers.org/mesh/D015594|http://identifiers.org/snomedct/33629003|DOID:13561	
MONDO:0023111	biolink:Disease	familial capillaro-venous leptomeningeal angiomatosis		UMLS:C2931262|GARD:0009423|MESH:C536609	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023111	http://identifiers.org/mesh/C536609|UMLS:C2931262	gard_rare
MONDO:0023113	biolink:Disease	familial colorectal cancer	Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.	GARD:0008533|UMLS:CN029768	mondo.json	hereditary colorectal cancer|colorectal cancer, familial	http://purl.obolibrary.org/obo/MONDO_0023113	UMLS:CN029768	gard_rare
NCBITaxon:5820	biolink:OrganismalEntity	Plasmodium		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5820		
MONDO:0011129	biolink:Disease	glaucoma type 1C		OMIM:601682|GARD:0002484|UMLS:C1866483	mondo.json	GLC1C|glaucoma 1C, primary open angle|glaucoma 1, primary open angle, C	http://purl.obolibrary.org/obo/MONDO_0011129	UMLS:C1866483|https://omim.org/entry/601682	gard_rare
MONDO:0013796	biolink:Disease	chromosome 17q12 duplication syndrome	17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.	GARD:0013296|Orphanet:261272|OMIM:614526|UMLS:C3281137|SCTID:764435003|DOID:0060433	mondo.json	trisomy 17q12|recurrent duplication of 17q12|17q12 microduplication|chromosome 17q12 duplication syndrome|17q12 duplication|dup(17)(q12)|17q12 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0013796	UMLS:C3281137|DOID:0060433|https://omim.org/entry/614526|http://identifiers.org/snomedct/764435003|Orphanet:261272	ordo_malformation_syndrome
MONDO:0011133	biolink:Disease	deaf blind hypopigmentation syndrome, Yemenite type	Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.	GARD:0005535|UMLS:C1866425|MESH:C536771|SCTID:721084001|OMIM:601706|Orphanet:3214	mondo.json	Yemenite (Warburg) deaf-blind hypopigmentation syndrome|Yemenite deaf-blind hypopigmentation syndrome|Warburg-Thomsen syndrome|Warburg Thomsen syndrome	http://purl.obolibrary.org/obo/MONDO_0011133	http://identifiers.org/mesh/C536771|http://identifiers.org/snomedct/721084001|UMLS:C1866425|https://omim.org/entry/601706|Orphanet:3214	ordo_malformation_syndrome
MONDO:0011132	biolink:Disease	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.	SCTID:720345008|MESH:C536781|DOID:0060769|UMLS:C1866426|Orphanet:169095|OMIM:601705|GARD:0004358	mondo.json	winged helix deficiency|severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome|alymphoid cystic thymic dysgenesis|T-cell immunodeficiency, congenital alopecia and nail dystrophy|T-cell immunodeficiency, congenital alopecia, and nail dystrophy|alopecia immunodeficiency|congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency|Pignata Guarino syndrome|FOXN1 deficiency	http://purl.obolibrary.org/obo/MONDO_0011132	Orphanet:169095|UMLS:C1866426|DOID:0060769|https://omim.org/entry/601705|http://identifiers.org/snomedct/720345008|http://identifiers.org/mesh/C536781	gard_rare|ordo_disease
MONDO:0013797	biolink:Disease	chromosome 17q12 deletion syndrome	17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported.	GARD:0013297|OMIM:614527|Orphanet:261265|DOID:0060404|UMLS:C3281138|UMLS:C4518822|SCTID:733519008	mondo.json	17q12 deletion syndrome|17q12 microdeletion syndrome|Del(17)(q12)|17q12 recurrent deletion syndrome|monosomy 17q12|chromosome 17q12 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013797	UMLS:C3281138|https://omim.org/entry/614527|DOID:0060404|Orphanet:261265|UMLS:C4518822|http://identifiers.org/snomedct/733519008	ordo_malformation_syndrome
MONDO:0011135	biolink:Disease	superior transverse scapular ligament, calcification of, familial		UMLS:C1866424|OMIM:601708|MESH:C566638	mondo.json	superior transverse scapular ligament, calcification of, familial	http://purl.obolibrary.org/obo/MONDO_0011135	UMLS:C1866424|https://omim.org/entry/601708|http://identifiers.org/mesh/C566638	
MONDO:0013794	biolink:Disease	thrombocythemia 3	Familial thrombocytosis in which the cause of the disease is a mutation in the JAK2 gene.	UMLS:C3281125|OMIM:614521|Orphanet:71493	mondo.json	thrombocythemia type 3|thrombocythemia 3, autosomal dominant, somatic mutation|familial thrombocytosis caused by mutation in JAK2|thrombocytosis 3|thrombocythemia 3|JAK2 familial thrombocytosis|THCYT3	http://purl.obolibrary.org/obo/MONDO_0013794	https://omim.org/entry/614521|UMLS:C3281125	
MONDO:0011134	biolink:Disease	Curry-Jones syndrome	Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.	SCTID:720819006|UMLS:C0795915|OMIM:601707|GARD:0005584|MESH:C536735|Orphanet:1553	mondo.json	curry-JONES syndrome|CRJS|corpus callosum agenesis-polysyndactyly syndrome|Curry-Jones syndrome, somatic mosaic|corpus callosum agenesis polysyndactyly|curry-Jones syndrome|curry Jones syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development	http://purl.obolibrary.org/obo/MONDO_0011134	http://identifiers.org/mesh/C536735|https://omim.org/entry/601707|http://identifiers.org/snomedct/720819006|Orphanet:1553|UMLS:C0795915	ordo_malformation_syndrome|gard_rare
MONDO:0013795	biolink:Disease	fibrochondrogenesis 2	Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene.	UMLS:C3281128|OMIM:614524	mondo.json	FBCG2|fibrochondrogenesis type 2|COL11A2 fibrochondrogenesis|fibrochondrogenesis 2|fibrochondrogenesis caused by mutation in COL11A2	http://purl.obolibrary.org/obo/MONDO_0013795	UMLS:C3281128|https://omim.org/entry/614524	
HP:0000554	biolink:PhenotypicFeature	Uveitis	Inflammation of one or all portions of the uveal tract.	UMLS:C0042164|MSH:D014605|SNOMEDCT_US:128473001	mondo.json		http://purl.obolibrary.org/obo/HP_0000554		hposlim_core
MONDO:0011137	biolink:Disease	retinitis pigmentosa 19	Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene.	GARD:0010398|UMLS:C1866422|DOID:0110354|OMIM:601718|ICD10CM:H35.5|MESH:C566637	mondo.json	retinitis pigmentosa 19|RP19|ABCA4 retinitis pigmentosa|retinitis pigmentosa type 19|retinitis pigmentosa caused by mutation in ABCA4|RP 19	http://purl.obolibrary.org/obo/MONDO_0011137	DOID:0110354|UMLS:C1866422|https://omim.org/entry/601718|http://identifiers.org/mesh/C566637	gard_rare
HGNC:10799	biolink:NamedThing	SFTPA2			mondo.json		http://identifiers.org/hgnc/10799		
MONDO:0011136	biolink:Disease	Quebec platelet disorder	Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.	OMIM:601709|GARD:0008345|MESH:C536260|Orphanet:220436|UMLS:C1866423|DOID:0111050	mondo.json	BDPLT5|platelet-type bleeding disorder 5|QPD|bleeding disorder, platelet-type, 5|factor 5 Quebec|Quebec platelet disorder|factor V Quebec	http://purl.obolibrary.org/obo/MONDO_0011136	UMLS:C1866423|https://omim.org/entry/601709|Orphanet:220436|DOID:0111050|http://identifiers.org/mesh/C536260	ordo_disease|gard_rare
HP:0000553	biolink:PhenotypicFeature	Abnormal uvea morphology	An abnormality of the uvea, the vascular layer of the eyeball.	UMLS:C4025842	mondo.json	Abnormality of the uvea	http://purl.obolibrary.org/obo/HP_0000553		
HP:0000556	biolink:PhenotypicFeature	Retinal dystrophy	Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.	SNOMEDCT_US:314407005|UMLS:C0854723|MSH:D058499	mondo.json	Breakdown of light-sensitive cells in back of eye	http://purl.obolibrary.org/obo/HP_0000556		
MONDO:0013798	biolink:Disease	chromosome 16q22 deletion syndrome		UMLS:C3281152|OMIM:614541|DOID:0060401	mondo.json	chromosome 16q22 deletion syndrome|chromosome 16q22 deletion syndrome, isolated cases	http://purl.obolibrary.org/obo/MONDO_0013798	UMLS:C3281152|DOID:0060401|https://omim.org/entry/614541	
MONDO:0011139	biolink:Disease	preaxial hallucal polydactyly		MESH:C566632|OMIM:601759|UMLS:C1866339	mondo.json	preaxial hallucal polydactyly	http://purl.obolibrary.org/obo/MONDO_0011139	http://identifiers.org/mesh/C566632|UMLS:C1866339|https://omim.org/entry/601759	
MONDO:0011138	biolink:Disease	systemic lupus erythematosus, susceptibility to, 1	Any systemic lupus erythematosus in which the cause of the disease is a mutation in the TLR5 gene.	OMIM:601744	mondo.json	systemic lupus erythematosus, susceptibility to, 1|systemic lupus erythematosus, susceptibility to, type 1|SLEB1|TLR5 systemic lupus erythematosus (disease)|susceptibility to systemic lupus erythematosus 1|systemic lupus erythematosus, resistance to, 1|systemic lupus erythematosus (disease) caused by mutation in TLR5|systemic lupus erythematosus, resistance to	http://purl.obolibrary.org/obo/MONDO_0011138	https://omim.org/entry/601744	predisposition
MONDO:0013799	biolink:Disease	obsolete efavirenz, poor metabolism of		OMIM:614546	mondo.json	efavirenz, poor metabolism of|efavirenz central nervous system toxicity, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0013799	https://omim.org/entry/614546	
HGNC:10798	biolink:NamedThing	SFTPA1			mondo.json		http://identifiers.org/hgnc/10798		
HGNC:19129	biolink:NamedThing	PSAT1			mondo.json		http://identifiers.org/hgnc/19129		
MONDO:0013792	biolink:Disease	intracerebral hemorrhage	Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma.	MESH:D002543|EFO:0005669|SCTID:274100004|ICD9:431|OMIM:614519	mondo.json	ich|hemorrhage, intracerebral, susceptibility to|stroke, hemorrhagic|stroke, hemorrhagic, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0013792	https://omim.org/entry/614519|http://identifiers.org/snomedct/274100004|http://identifiers.org/mesh/D002543	
HGNC:19125	biolink:NamedThing	FGD4			mondo.json		http://identifiers.org/hgnc/19125		
MONDO:0013793	biolink:Disease	encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency		OMIM:614520|UMLS:C3281106	mondo.json	encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency	http://purl.obolibrary.org/obo/MONDO_0013793	https://omim.org/entry/614520|UMLS:C3281106	
MONDO:0013790	biolink:Disease	mirror movements 2	Any familial congenital mirror movements in which the cause of the disease is a mutation in the RAD51 gene.	OMIM:614508|UMLS:C3281089	mondo.json	RAD51 familial congenital mirror movements|familial congenital mirror movements caused by mutation in RAD51|mirror movements 2|mirror movements type 2|MRMV2	http://purl.obolibrary.org/obo/MONDO_0013790	https://omim.org/entry/614508|UMLS:C3281089	
MONDO:0011131	biolink:Disease	tricho-oculo-dermo-vertebral syndrome		MESH:C537441|OMIM:601701|Orphanet:3354|GARD:0001553	mondo.json	Alves syndrome|Todv syndrome|Trichooculodermovertebral syndrome|ectodermal dysplasia - cataracts - kyphoscoliosis|ectodermal dysplasia-cataracts-kyphoscoliosis syndrome|Alves-dos Santos-Castelo syndrome|arthrogryposis and ectodermal dysplasia	http://purl.obolibrary.org/obo/MONDO_0011131	https://omim.org/entry/601701|http://identifiers.org/mesh/C537441	ordo_malformation_syndrome
MONDO:0013791	biolink:Disease	thrombophilia due to protein S deficiency, autosomal recessive		UMLS:C3281092|OMIM:614514	mondo.json	thrombophilia due to PROTEIN S deficiency, autosomal recessive|thrombophilia due to protein S deficiency, autosomal recessive|THPH6|thrombophilia 5 due to protein S deficiency, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0013791	https://omim.org/entry/614514|UMLS:C3281092	
MONDO:0011130	biolink:Disease	sebaceous gland hyperplasia, familial presenile		GARD:0010031|UMLS:C1866428|MESH:C537530|OMIM:601700	mondo.json	sebaceous gland hyperplasia, familial presenile	http://purl.obolibrary.org/obo/MONDO_0011130	UMLS:C1866428|https://omim.org/entry/601700|http://identifiers.org/mesh/C537530	gard_rare
MONDO:0023100	biolink:Disease	facial clefting corpus callosum agenesis		GARD:0002220	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023100		gard_rare
MONDO:0023101	biolink:Disease	facio digito genital syndrome recessive form		GARD:0002226	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023101		gard_rare
NCBITaxon:37124	biolink:OrganismalEntity	Chikungunya virus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_37124		
NCBITaxon:5833	biolink:OrganismalEntity	Plasmodium falciparum		GC_ID:1	mondo.json	Plasmodium (Laverania) falciparum|malaria parasite P. falciparum	http://purl.obolibrary.org/obo/NCBITaxon_5833		
MONDO:0023102	biolink:Disease	facio skeletal genital syndrome rippberger type		GARD:0002227	mondo.json	Ripperger Aase syndrome	http://purl.obolibrary.org/obo/MONDO_0023102		gard_rare
HP:0012531	biolink:PhenotypicFeature	Pain	An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.	SNOMEDCT_US:22253000|UMLS:C0030193|MSH:D010146	mondo.json	Pain	http://purl.obolibrary.org/obo/HP_0012531		
HP:0012532	biolink:PhenotypicFeature	Chronic pain	Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months.	MSH:D059350|UMLS:C0150055|SNOMEDCT_US:82423001	mondo.json	Chronic pain|Long-lasting pain	http://purl.obolibrary.org/obo/HP_0012532		
HGNC:22788	biolink:NamedThing	FEZF1			mondo.json		http://identifiers.org/hgnc/22788		
MONDO:0023106	biolink:Disease	Fairbank disease		MESH:C536393	mondo.json	epiphyseal dysplasia Fairbank type|dysplasia epiphysealis multiplex|epiphyseal dysplasia, ribbing type|Fairbank multiple epiphyseal dysplasia|epiphyseal dysplasia, Fairbank type	http://purl.obolibrary.org/obo/MONDO_0023106	http://identifiers.org/mesh/C536393	
HP:0012535	biolink:PhenotypicFeature	Abnormal synaptic transmission	An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process.	UMLS:C4021083	mondo.json	Abnormality of neurotransmitter metabolism	http://purl.obolibrary.org/obo/HP_0012535		
MONDO:0011119	biolink:Disease	iridogoniodysgenesis		Orphanet:98634|DOID:0050786	mondo.json	IRID	http://purl.obolibrary.org/obo/MONDO_0011119	Orphanet:98634|DOID:0050786	disease_grouping|ordo_group_of_disorders
HP:0000568	biolink:PhenotypicFeature	Microphthalmia	A developmental anomaly characterized by abnormal smallness of one or both eyes.	Fyler:4877|MSH:D008850|SNOMEDCT_US:204108000|SNOMEDCT_US:61142002|UMLS:C0026010|UMLS:C4280808|UMLS:C4280625	mondo.json	Decreased size of eyeball|Abnormally small globe of eye|Microphthalmos|Abnormally small eyeball|Nanophthalmos|Decreased size of globe of eye	http://purl.obolibrary.org/obo/HP_0000568		hposlim_core
MONDO:0011118	biolink:Disease	bilineal acute myeloid leukemia	An acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). (WHO, 2001) -- 2003	UMLS:C0349680|NCIT:C6923|Orphanet:98836	mondo.json	acute bilineal leukemia|bilineal acute leukemia	http://purl.obolibrary.org/obo/MONDO_0011118	UMLS:C0349680|NCIT:C6923	ordo_disease
MONDO:0013785	biolink:Disease	intellectual disability, autosomal recessive 34	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRADD gene.	OMIM:614499|NCIT:C153179|UMLS:C3281044	mondo.json	intellectual disability, autosomal recessive 34|intellectual disability, autosomal recessive type 34|mental retardation, autosomal recessive 34|mental retardation, autosomal recessive type 34|mental retardation, autosomal recessive 34, with variant lissencephaly|intellectual disability, autosomal recessive 34, with variant lissencephaly|MRT34|CRADD autosomal recessive non-syndromic intellectual disability|intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly|autosomal recessive non-syndromic intellectual disability caused by mutation in CRADD	http://purl.obolibrary.org/obo/MONDO_0013785	UMLS:C3281044|https://omim.org/entry/614499|NCIT:C153179	
MONDO:0011122	biolink:Disease	obesity disorder	A disorder involving an excessive amount of body fat.	HP:0001513|Orphanet:521399|ICD9:278.00|NIFSTD:nlx_dys_20090302|NCIT:C3283|EFO:0001073|DOID:9970|ICD9:278.0|UMLS:C0028754|SCTID:414916001	mondo.json	obesity|obesity disease	http://purl.obolibrary.org/obo/MONDO_0011122	http://identifiers.org/snomedct/414916001|DOID:9970|NCIT:C3283|Orphanet:521399|UMLS:C0028754	
MONDO:0013786	biolink:Disease	cone-rod dystrophy 16	Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene.	OMIM:614500|DOID:0111022|UMLS:C3281045	mondo.json	CORD16|cone-rod dystrophy type 16|C8orf37 cone-rod dystrophy|cone-rod dystrophy caused by mutation in C8orf37|retinal dystrophy with early macular involvement|cone-rod dystrophy 16|retinitis pigmentosa 64	http://purl.obolibrary.org/obo/MONDO_0013786	UMLS:C3281045|https://omim.org/entry/614500|DOID:0111022	
MONDO:0011121	biolink:Disease	paragangliomas 2	Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene.	OMIM:601650|MESH:C566646|GARD:0010544	mondo.json	paragangliomas 2|paraganglioma caused by mutation in SDHAF2|SDHAF2 paraganglioma|SDHAF2-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 2)|glomus tumors, familial, 2|PGL2|paragangliomas type 2	http://purl.obolibrary.org/obo/MONDO_0011121	https://omim.org/entry/601650|http://identifiers.org/mesh/C566646	gard_rare
MONDO:0011124	biolink:Disease	spondyloepimetaphyseal dysplasia-abnormal dentition syndrome	A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.	UMLS:C1866507|OMIM:601668|MESH:C566644|Orphanet:168451	mondo.json	spondyloepimetaphyseal dysplasia with abnormal dentition|SEMDAD	http://purl.obolibrary.org/obo/MONDO_0011124	http://identifiers.org/mesh/C566644|UMLS:C1866507|Orphanet:168451|https://omim.org/entry/601668	ordo_disease
MONDO:0013783	biolink:Disease	microphthalmia, isolated, with coloboma 7	Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene.	UMLS:C3281027|OMIM:614497	mondo.json	microphthalmia, isolated, with coloboma caused by mutation in ABCB6|microphthalmia, isolated, with coloboma type 7|MCOPCB7|microphthalmia, isolated, with coloboma 7|ABCB6 microphthalmia, isolated, with coloboma	http://purl.obolibrary.org/obo/MONDO_0013783	UMLS:C3281027|https://omim.org/entry/614497	
MONDO:0011123	biolink:Disease	type 1 diabetes mellitus 15	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q21.	UMLS:C1866519|DOID:0110753|MESH:C566645|OMIM:601666	mondo.json	insulin-dependent diabetes mellitus 15|IDDM15|diabetes mellitus, insulin-dependent, 15	http://purl.obolibrary.org/obo/MONDO_0011123	http://identifiers.org/mesh/C566645|DOID:0110753|UMLS:C1866519|https://omim.org/entry/601666	
MONDO:0013784	biolink:Disease	neonatal-onset encephalopathy with rigidity and seizures		OMIM:614498|UMLS:C3281029|EFO:0009144|Orphanet:435845	mondo.json	RMFSL|lethal neonatal rigidity-multifocal seizure syndrome|lethal neonatal spasticity-epileptic encephalopathy syndrome|rigidity and multifocal seizure syndrome, lethal neonatal|neonatal-onset encephalopathy with rigidity and seizures	http://purl.obolibrary.org/obo/MONDO_0013784	Orphanet:435845|UMLS:C3281029|https://omim.org/entry/614498	ordo_malformation_syndrome
MONDO:0011126	biolink:Disease	acute insulin response		OMIM:601676	mondo.json	Air|acute insulin response	http://purl.obolibrary.org/obo/MONDO_0011126	https://omim.org/entry/601676	
MONDO:0013789	biolink:Disease	DDOST-congenital disorder of glycosylation	DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).	GARD:0012398|UMLS:C3281084|DOID:0080569|Orphanet:300536|OMIM:614507|SCTID:733083006	mondo.json	congenital disorder of glycosylation, type Ir|congenital disorder of glycosylation type 1r|carbohydrate deficient glycoprotein syndrome type Ir|CDG-Ir|DDOST-CDG|DDOST-congenital disorder of glycosylation|CDG syndrome type Ir|congenital disorder of glycosylation type Ir|carbohydrate deficient glycoprotein syndrome type|DDOST-CDG (CDG-Ir)|CDG1R	http://purl.obolibrary.org/obo/MONDO_0013789	DOID:0080569|UMLS:C3281084|https://omim.org/entry/614507|Orphanet:300536|http://identifiers.org/snomedct/733083006	ordo_disease
MONDO:0011125	biolink:Disease	trichothiodystrophy 1, photosensitive		Orphanet:670|OMIM:601675	mondo.json	PIBIDS syndrome|Tay syndrome|trichothiodystrophy with congenital ichthyosis|trichothiodystrophy 1, photosensitive|trichothiodystrophy, photosensitive|TTD1|ichthyosiform erythroderma with hair Abnormality and mental and Growth retardation	http://purl.obolibrary.org/obo/MONDO_0011125	Orphanet:670|https://omim.org/entry/601675	
MONDO:0013787	biolink:Disease	psychomotor retardation, epilepsy, and craniofacial dysmorphism		OMIM:614501|UMLS:C3281055	mondo.json	neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures|PMRED|psychomotor retardation, epilepsy, and craniofacial dysmorphism	http://purl.obolibrary.org/obo/MONDO_0013787	UMLS:C3281055|https://omim.org/entry/614501	
MONDO:0011128	biolink:Disease	Sheldon-hall syndrome	Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.	UMLS:C1834523|DOID:0111599|Orphanet:1147|GARD:0009909	mondo.json	Sheldon-Hall syndrome|Freeman Sheldon variant|arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities|DA2B|arthrogryposis multiplex congenita, distal, type 2B|arthrogryposis, distal, type 2B|arthrogryposis multiplex congenita distal type 2B|Freeman Sheldon syndrome, variant|distal arthrogryposis type 2B|arthrogryposis multiplex congenita distal type II with craniofacial abnormalities|Freeman-Sheldon syndrome variant	http://purl.obolibrary.org/obo/MONDO_0011128	DOID:0111599|UMLS:C1834523|Orphanet:1147	ordo_malformation_syndrome
MONDO:0013788	biolink:Disease	Usher syndrome type 3B	Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene.	UMLS:C3281066|DOID:0110842|ICD10CM:H35.5|OMIM:614504	mondo.json	USH3B|USHER syndrome, type IIIB|HARS Usher syndrome|Usher syndrome, type 3B|Usher syndrome type IIIB|Usher syndrome caused by mutation in HARS	http://purl.obolibrary.org/obo/MONDO_0013788	UMLS:C3281066|DOID:0110842|https://omim.org/entry/614504	
MONDO:0011127	biolink:Disease	obsolete Bartter disease type 1			mondo.json		http://purl.obolibrary.org/obo/MONDO_0011127		
HGNC:19139	biolink:NamedThing	POMGNT1			mondo.json		http://identifiers.org/hgnc/19139		
MONDO:0013781	biolink:Disease	pseudohypoaldosteronism type 2D	Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene.	OMIM:614495|UMLS:C3469605|Orphanet:300525	mondo.json	pseudohypoaldosteronism, type IID|KLHL3 pseudohypoaldosteronism type 2|familial hyperkalemic hypertension|PHA2D|pseudohypoaldosteronism type 2 caused by mutation in KLHL3|pseudohypoaldosteronism, type 2D	http://purl.obolibrary.org/obo/MONDO_0013781	https://omim.org/entry/614495|Orphanet:300525|UMLS:C3469605	ordo_etiological_subtype
MONDO:0013782	biolink:Disease	pseudohypoaldosteronism type 2E	Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene.	Orphanet:300530|OMIM:614496|UMLS:C3469606	mondo.json	pseudohypoaldosteronism, type IIE|PHA2E|pseudohypoaldosteronism type 2 caused by mutation in CUL3|pseudohypoaldosteronism type 2 caused by mutation in Cul3|CUL3 pseudohypoaldosteronism type 2|Cul3 pseudohypoaldosteronism type 2|pseudohypoaldosteronism, type 2E	http://purl.obolibrary.org/obo/MONDO_0013782	https://omim.org/entry/614496|Orphanet:300530|UMLS:C3469606	ordo_etiological_subtype
MONDO:0011120	biolink:Disease	neural tube defects, folate-sensitive		UMLS:C1866558|MESH:C536409|OMIM:601634	mondo.json	spina bifida, folate-sensitive|neural tube defects, folate-sensitive|NTDFS|neural tube defects, folate-sensitive, susceptibility to|neural tube defects, susceptibility to|NTD, folate-sensitive	http://purl.obolibrary.org/obo/MONDO_0011120	UMLS:C1866558|https://omim.org/entry/601634|http://identifiers.org/mesh/C536409	
MONDO:0013780	biolink:Disease	retinitis pigmentosa 63	A retinitis pigmentosa that has material basis in variation in the chromosome region 6q23.	UMLS:C3281002|DOID:0110385|ICD10CM:H35.5|OMIM:614494	mondo.json	retinitis pigmentosa 63|retinitis pigmentosa type 63|RP63	http://purl.obolibrary.org/obo/MONDO_0013780	https://omim.org/entry/614494|UMLS:C3281002|DOID:0110385	
MONDO:0001785	biolink:Disease	malignant secondary hypertension		ICD9:405.09|UMLS:C0155617|SCTID:89242004|DOID:13731|ICD9:405.0	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001785	DOID:13731|UMLS:C0155617|http://identifiers.org/snomedct/89242004	
MONDO:0001784	biolink:Disease	malignant renovascular hypertension		DOID:13730	mondo.json	malignant renal artery stenosis|malignant renal hypertension	http://purl.obolibrary.org/obo/MONDO_0001784	DOID:13730	
HGNC:19100	biolink:NamedThing	IL23R			mondo.json		http://identifiers.org/hgnc/19100		
MONDO:0001783	biolink:Disease	endometrial stromal nodule	A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia.	UMLS:C0334485|EFO:1000241|DOID:1373|SCTID:721571001|NCIT:C4262|ICDO:8930/0	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001783	http://identifiers.org/snomedct/721571001|DOID:1373|NCIT:C4262|UMLS:C0334485	
MONDO:0001782	biolink:Disease	mature cataract	A cataract that produces swelling and opacity of the entire lens; cataracts are removed before maturity.	ICD9:366.17|SCTID:849000|DOID:13717	mondo.json	total, mature senile cataract|total or mature cataract	http://purl.obolibrary.org/obo/MONDO_0001782	DOID:13717|http://identifiers.org/snomedct/849000	
MONDO:0001789	biolink:Disease	neurofibroma of spinal cord	A neurofibroma that arises from the spinal cord.	UMLS:C1336047|NCIT:C5145|DOID:13742	mondo.json	neurofibroma of spinal cord|spinal cord neurofibroma	http://purl.obolibrary.org/obo/MONDO_0001789	DOID:13742|NCIT:C5145|UMLS:C1336047	
MONDO:0001788	biolink:Disease	nutmeg liver		DOID:13739|ICD9:573.0|SCTID:34736002|UMLS:C0156195	mondo.json	chronic passive congestion of liver	http://purl.obolibrary.org/obo/MONDO_0001788	http://identifiers.org/snomedct/34736002|UMLS:C0156195|DOID:13739	
MONDO:0001787	biolink:Disease	hepatic infarction		UMLS:C0151731|ICD9:573.4|DOID:13738|SCTID:17890003	mondo.json	infarct of liver	http://purl.obolibrary.org/obo/MONDO_0001787	DOID:13738|http://identifiers.org/snomedct/17890003|UMLS:C0151731	
MONDO:0001786	biolink:Disease	uterine inflammatory disease		ICD9:615.9|DOID:13736|SCTID:28783002|UMLS:C0269047	mondo.json	inflammatory disease of the uterus	http://purl.obolibrary.org/obo/MONDO_0001786	http://identifiers.org/snomedct/28783002|DOID:13736|UMLS:C0269047	
MONDO:0011108	biolink:Disease	obsolete Stüve-Wiedemann syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0011108		
MONDO:0011107	biolink:Disease	congenital hypotrichosis with juvenile macular dystrophy	A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.	UMLS:C1832162|OMIM:601553|DOID:0110711|MESH:C537698|GARD:0003066|Orphanet:1573	mondo.json	hypotrichosis with cone-rod dystrophy|hypotrichosis with juvenile macular dystrophy|Hjmd|juvenile macular degeneration and hypotrichosis|HJMD|juvenile macular dystrophy and congenital hypotrichosis|hypotrichosis with juvenile macular degeneration|hypotrichosis, congenital, with juvenile macular dystrophy	http://purl.obolibrary.org/obo/MONDO_0011107	UMLS:C1832162|Orphanet:1573|http://identifiers.org/mesh/C537698|DOID:0110711|https://omim.org/entry/601553	ordo_malformation_syndrome
MONDO:0013769	biolink:Disease	atrioventricular septal defect 5	Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene.	OMIM:614474|UMLS:C3280939	mondo.json	atrioventricular septal defect caused by mutation in GATA6|AVSD5|atrioventricular septal defect 5|atrioventricular septal defect type 5|GATA6 atrioventricular septal defect	http://purl.obolibrary.org/obo/MONDO_0013769	https://omim.org/entry/614474|UMLS:C3280939	
HGNC:10768	biolink:NamedThing	SF3B1			mondo.json		http://identifiers.org/hgnc/10768		
NCBITaxon:5809	biolink:OrganismalEntity	Sarcocystidae		GC_ID:1	mondo.json	Sarcocystids	http://purl.obolibrary.org/obo/NCBITaxon_5809		
MONDO:0011109	biolink:Disease	multiple epiphyseal dysplasia, Lowry type	Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.	UMLS:C1832112|Orphanet:166016|SCTID:768935003|OMIM:601560|MESH:C563291	mondo.json	epiphyseal dysplasia, multiple, with Robin phenotype|multiple epiphyseal dysplasia with ROBIN phenotype|multiple epiphyseal dysplasia with Robin phenotype	http://purl.obolibrary.org/obo/MONDO_0011109	Orphanet:166016|http://identifiers.org/snomedct/768935003|UMLS:C1832112|http://identifiers.org/mesh/C563291|https://omim.org/entry/601560	ordo_disease
MONDO:0001781	biolink:Disease	uterine corpus adenomatoid tumor	A benign mesothelial tumor of the serosal surface of the uterine body and myometrium. It is characterized by the presence of gland-like structures.	UMLS:C1336902|DOID:1371|NCIT:C27250	mondo.json	uterine corpus localized epithelial mesothelioma|body of uterus adenomatoid tumor|uterine corpus adenomatoid tumor	http://purl.obolibrary.org/obo/MONDO_0001781	NCIT:C27250|DOID:1371|UMLS:C1336902	
NCBITaxon:5806	biolink:OrganismalEntity	Cryptosporidium		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5806		
NCBITaxon:5807	biolink:OrganismalEntity	Cryptosporidium parvum		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5807		
MONDO:0001780	biolink:Disease	premature ejaculation	A disorder characterized by persistent or recurrent ejaculation before or after penetration and before the person wishes it.	HP:0012876|ICD9:302.75|NCIT:C94349|ICD10CM:F52.4|MESH:D061686|DOID:13709	mondo.json	premature ejaculation|premature ejaculation (disease)	http://purl.obolibrary.org/obo/MONDO_0001780	DOID:13709|http://purl.bioontology.org/ontology/ICD10CM/F52.4|http://identifiers.org/mesh/D061686|NCIT:C94349	
MONDO:0013774	biolink:Disease	trigonocephaly 2	Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene.	OMIM:614485	mondo.json	FREM1 isolated trigonocephaly|trigonocephaly 2|isolated trigonocephaly caused by mutation in FREM1|craniosynostosis, metopic|TRIGNO2|trigonocephaly type 2	http://purl.obolibrary.org/obo/MONDO_0013774	https://omim.org/entry/614485	
MONDO:0011111	biolink:Disease	obsolete horns in sheep		OMIM:601563	mondo.json	horns in sheep|Ho	http://purl.obolibrary.org/obo/MONDO_0011111	https://omim.org/entry/601563	
MONDO:0013775	biolink:Disease	thrombomodulin-related bleeding disorder		MESH:C566057|OMIM:614486|Orphanet:436169|UMLS:C3280976	mondo.json	THPH12|THBD-related bleeding disorder|thrombophilia due to thrombomodulin defect|thrombomodulin-related coagulopathy|THBD-related coagulopathy|thrombophilia 12 due to thrombomodulin defect	http://purl.obolibrary.org/obo/MONDO_0013775	https://omim.org/entry/614486|UMLS:C3280976|http://identifiers.org/mesh/C566057|Orphanet:436169	ordo_disease
MONDO:0011110	biolink:Disease	dyssegmental dysplasia-glaucoma syndrome	This syndrome is characterised by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children.	UMLS:C1832111|GARD:0002025|OMIM:601561|Orphanet:1804|MESH:C563290	mondo.json	dyssegmental dysplasia and glaucoma|dyssegmental dysplasia with glaucoma	http://purl.obolibrary.org/obo/MONDO_0011110	Orphanet:1804|http://identifiers.org/mesh/C563290|https://omim.org/entry/601561|UMLS:C1832111	gard_rare|ordo_malformation_syndrome
MONDO:0011113	biolink:Disease	Charcot-Marie-Tooth disease type 4C	Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.	NCIT:C129864|Orphanet:99949|MESH:C535423|UMLS:C1866636|SCTID:715797002|GARD:0009201|DOID:0110183|OMIM:601596	mondo.json	SH3TC2 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease, type 4C|Charcot-Marie-Tooth neuropathy type 4C|Charcot-Marie-Tooth neuropathy, type 4C|Charcot-Marie-Tooth disease type 4C|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4C|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C|CMT 4C|CMT4C|Charcot Marie Tooth disease type 4C|Charcot-Marie-Tooth disease type 4 caused by mutation in SH3TC2	http://purl.obolibrary.org/obo/MONDO_0011113	http://identifiers.org/snomedct/715797002|Orphanet:99949|NCIT:C129864|DOID:0110183|http://identifiers.org/mesh/C535423|UMLS:C1866636|https://omim.org/entry/601596	ordo_disease|gard_rare
MONDO:0013772	biolink:Disease	congenital cataract-hearing loss-severe developmental delay syndrome		OMIM:614482|UMLS:C3280965|Orphanet:300313	mondo.json	lethal neurodegenerative disorder due to copper transport defect|CCHLND|congenital cataract-deafness-severe developmental delay syndrome|congenital cataracts, hearing loss, and neurodegeneration	http://purl.obolibrary.org/obo/MONDO_0013772	https://omim.org/entry/614482|Orphanet:300313|UMLS:C3280965	ordo_disease
HGNC:10771	biolink:NamedThing	SF3B4			mondo.json		http://identifiers.org/hgnc/10771		
MONDO:0013773	biolink:Disease	porencephaly 2	Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene.	UMLS:C3280970|OMIM:614483	mondo.json	COL4A2 porencephaly|brain small vessel disease 2|porencephaly type 2|porencephaly 2|POREN2|porencephaly caused by mutation in COL4A2	http://purl.obolibrary.org/obo/MONDO_0013773	https://omim.org/entry/614483|UMLS:C3280970	
MONDO:0011112	biolink:Disease	Wilms tumor 5	Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene.	GARD:0005578|OMIM:601583|MESH:C536707	mondo.json	Wilms tumor 5|WT5|Wilms tumor and radial bilateral aplasia|bilateral radial aplasia with Wilms tumor|Wilms tumor, susceptibility to|Wilms tumor type 5|Wilms tumor susceptibility-5, autosomal dominant, somatic mutation	http://purl.obolibrary.org/obo/MONDO_0011112	http://identifiers.org/mesh/C536707|https://omim.org/entry/601583	
MONDO:0013778	biolink:Disease	pseudohypoaldosteronism type 2C	Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene.	UMLS:C1840391|Orphanet:88940|MESH:C564162|OMIM:614492	mondo.json	pseudohypoaldosteronism, type 2C|pseudohypoaldosteronism, type IIC|PHA2C|pseudohypoaldosteronism type 2 caused by mutation in WNK1|WNK1 pseudohypoaldosteronism type 2	http://purl.obolibrary.org/obo/MONDO_0013778	http://identifiers.org/mesh/C564162|https://omim.org/entry/614492|UMLS:C1840391|Orphanet:88940	ordo_etiological_subtype
MONDO:0011115	biolink:Disease	spastic paraplegia and Evans syndrome		MESH:C566652|OMIM:601608|UMLS:C1866619	mondo.json	spastic paraplegia and Evans syndrome	http://purl.obolibrary.org/obo/MONDO_0011115	http://identifiers.org/mesh/C566652|UMLS:C1866619|https://omim.org/entry/601608	
HP:0000532	biolink:PhenotypicFeature	Abnormal chorioretinal morphology	An abnormality of the choroid and retina.	UMLS:C4025844	mondo.json	Chorioretinal abnormality	http://purl.obolibrary.org/obo/HP_0000532		
MONDO:0011114	biolink:Disease	familial multiple trichoepithelioma		GARD:0010867|UMLS:C1275122|Orphanet:867|SCTID:403825008	mondo.json	Brooke-Fordyce Trichoepitheliomas|epithelioma Adenoides Cysticum of Brooke|epithelioma, hereditary multiple benign cystic|epithelioma adenoides cysticum|hereditary multiple benign cystic epithelioma|trichoepithelioma multiple familial|multiple familial trichoepithelioma	http://purl.obolibrary.org/obo/MONDO_0011114	Orphanet:867|UMLS:C1275122|http://identifiers.org/snomedct/403825008	ordo_clinical_subtype
MONDO:0013779	biolink:Disease	Wiskott-Aldrich syndrome 2	Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutation in the WIPF1 gene.	UMLS:C3281001|OMIM:614493|OMIM:277970	mondo.json	Wiskott-Aldrich syndrome type 2|Wipf1 deficiency|WIPF1 Wiskott-Aldrich syndrome|WAS2|Wiskott-Aldrich syndrome caused by mutation in WIPF1|Wiskott-Aldrich syndrome 2	http://purl.obolibrary.org/obo/MONDO_0013779	UMLS:C3281001|https://omim.org/entry/614493	
HGNC:10778	biolink:NamedThing	SFRP4			mondo.json		http://identifiers.org/hgnc/10778		
MONDO:0013776	biolink:Disease	spastic ataxia 5	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.	ICD10CM:G11.4|UMLS:C3280977|Orphanet:313772|DOID:0050944|OMIM:614487	mondo.json	SPAX5|autosomal recessive spastic ataxia type 5|autosomal recessive spastic ataxia caused by mutation in AFG3L2|AFG3L2-related spastic ataxia-neuropathy syndrome|spastic ataxia 5, autosomal recessive|AFG3L2 autosomal recessive spastic ataxia|spastic ataxia type 5|AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome|early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	http://purl.obolibrary.org/obo/MONDO_0013776	DOID:0050944|https://omim.org/entry/614487|Orphanet:313772|UMLS:C3280977	ordo_disease
MONDO:0011117	biolink:Disease	iris pigment epithelium anomalies		MESH:C566651|UMLS:C1866608|OMIM:601616	mondo.json	iris pigment epithelium anomalies|ruffles and cysts of iris pigment epithelium|cysts of iris pigment epithelium	http://purl.obolibrary.org/obo/MONDO_0011117	http://identifiers.org/mesh/C566651|UMLS:C1866608|https://omim.org/entry/601616	
HP:0000534	biolink:PhenotypicFeature	Abnormal eyebrow morphology	An abnormality of the eyebrow.	UMLS:C4011556	mondo.json	Abnormality of the eyebrow	http://purl.obolibrary.org/obo/HP_0000534		hposlim_core
MONDO:0011116	biolink:Disease	lung agenesis-heart defect-thumb anomalies syndrome	Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies.	OMIM:601612|SCTID:721976003|UMLS:C0265780|GARD:0003378|MESH:C535708|Orphanet:1120	mondo.json	Mardini-Nyhan association|Manouvrier syndrome|lung agenesis, congenital heart defects, and thumb anomalies syndrome|lung agenesis heart defect thumb anomalies|Mardini-Nyhan syndrome|pulmonary aplasia and triphalangia of the thumb|LACHT	http://purl.obolibrary.org/obo/MONDO_0011116	Orphanet:1120|http://identifiers.org/snomedct/721976003|http://identifiers.org/mesh/C535708|https://omim.org/entry/601612	ordo_malformation_syndrome|gard_rare
MONDO:0013777	biolink:Disease	pseudohypoaldosteronism type 2B	Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene.	Orphanet:88939|MESH:C564161|OMIM:614491|UMLS:C1840390	mondo.json	pseudohypoaldosteronism, type IIB|pseudohypoaldosteronism type 2 caused by mutation in WNK4|PHA2B|WNK4 pseudohypoaldosteronism type 2|pseudohypoaldosteronism, type 2B	http://purl.obolibrary.org/obo/MONDO_0013777	http://identifiers.org/mesh/C564161|UMLS:C1840390|https://omim.org/entry/614491|Orphanet:88939	ordo_etiological_subtype
MONDO:0001779	biolink:Disease	vaginal squamous papilloma	A benign papillary neoplasm that arises from the vagina and is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. There is no evidence of atypia or relation to human papillomavirus.	DOID:137|UMLS:C1336943|NCIT:C6374	mondo.json	squamous papilloma of the vagina|vagina squamous papilloma|vaginal squamous papilloma|squamous papilloma of vagina	http://purl.obolibrary.org/obo/MONDO_0001779	DOID:137|NCIT:C6374|UMLS:C1336943	
MONDO:0013770	biolink:Disease	atrial septal defect 9	Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene.	OMIM:614475|DOID:0110114|UMLS:C3280943	mondo.json	atrial heart septal defect type 9|GATA6 atrial heart septal defect|atrial septal defect 9|ASD9|atrial septal defect type 9|atrial heart septal defect caused by mutation in GATA6	http://purl.obolibrary.org/obo/MONDO_0013770	DOID:0110114|https://omim.org/entry/614475|UMLS:C3280943	
MONDO:0013771	biolink:Disease	transient infantile hypertriglyceridemia and hepatosteatosis		Orphanet:300293|OMIM:614480|UMLS:C3280953	mondo.json	HTGTI|hypertriglyceridemia, transient infantile|transient infantile hypertriglyceridemia and hepatosteatosis|transient infantile hypertriglyceridemia and fatty liver	http://purl.obolibrary.org/obo/MONDO_0013771	Orphanet:300293|https://omim.org/entry/614480|UMLS:C3280953	ordo_disease
HGNC:19104	biolink:NamedThing	NPHP4			mondo.json		http://identifiers.org/hgnc/19104		
HGNC:19102	biolink:NamedThing	DDX58			mondo.json		http://identifiers.org/hgnc/19102		
MONDO:0001796	biolink:Disease	obsolete epidermodysplasia verruciformis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001796		
MONDO:0001795	biolink:Disease	plantar wart	A wart in the plantar surface of the foot. It is caused by human papillomavirus.	EFO:1002023|ICD10CM:B07.0|SCTID:63440008|DOID:13775|NCIT:C26913|UMLS:C0042548|ICD9:078.12	mondo.json	plantar wart|verruca plantaris	http://purl.obolibrary.org/obo/MONDO_0001795	DOID:13775|NCIT:C26913|http://identifiers.org/snomedct/63440008|http://purl.bioontology.org/ontology/ICD10CM/B07.0|UMLS:C0042548	
MONDO:0001794	biolink:Disease	Pthirus pubis infestation	Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects.	SCTID:71011005|UMLS:C0030759|ICD9:132.2|DOID:13760|ICD10CM:B85.3|NCIT:C35777	mondo.json	infections, Pthirus pubis|phthiriasis pubis|Pediculus pubis|Phthirus pubis [pubic louse]|Pthirus pubis infection|crabs|infestation by Phthirus pubis|Phthirus/pediculus pubis - pubic lice - crabs|phthiriasis|Phthirus/pediculus pubis - pubic lice - crabs (& infestation)|Phthirus pubis|pediculosis pubis	http://purl.obolibrary.org/obo/MONDO_0001794	http://identifiers.org/snomedct/71011005|DOID:13760|NCIT:C35777|UMLS:C0030759|http://purl.bioontology.org/ontology/ICD10CM/B85.3	
NCBITaxon:5811	biolink:OrganismalEntity	Toxoplasma gondii		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5811		
MONDO:0001793	biolink:Disease	excessive tearing	Profuse lacrimation.	UMLS:C0152227|DOID:13757|ICD9:375.20|ICD9:375.2|MESH:D007766|SCTID:193982009	mondo.json	disease, lacrimal apparatus|apparatus disease, lacrimal|watering eye|epiphora|excessive tear production|lacrimal apparatus disease|diseases, lacrimal apparatus|apparatus diseases, lacrimal	http://purl.obolibrary.org/obo/MONDO_0001793	DOID:13757|UMLS:C0152227|http://identifiers.org/snomedct/193982009	
MONDO:0001799	biolink:Disease	localized anterior staphyloma		ICD9:379.14|UMLS:C0155362|SCTID:21946002|DOID:13787	mondo.json	anterior staphyloma, localized	http://purl.obolibrary.org/obo/MONDO_0001799	DOID:13787|UMLS:C0155362|http://identifiers.org/snomedct/21946002	
NCBITaxon:5810	biolink:OrganismalEntity	Toxoplasma		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5810		
MONDO:0001798	biolink:Disease	hypermobility syndrome		SCTID:85551004|ICD9:728.5|UMLS:C0152093|DOID:13781|ICD10CM:M35.7	mondo.json	benign joint hypermobility	http://purl.obolibrary.org/obo/MONDO_0001798	DOID:13781|UMLS:C0152093|http://purl.bioontology.org/ontology/ICD10CM/M35.7|http://identifiers.org/snomedct/85551004	
HGNC:20105	biolink:NamedThing	FLVCR2			mondo.json		http://identifiers.org/hgnc/20105		
MONDO:0001797	biolink:Disease	chancroid	Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more.About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery.	ICD9:099.0|SCTID:266143009|DOID:13778|UMLS:C0007947|MESH:D002602|GARD:0009522|ICD10CM:A57	mondo.json	Ulcus molle, skin|Chancroids	http://purl.obolibrary.org/obo/MONDO_0001797	http://purl.bioontology.org/ontology/ICD10CM/A57|http://identifiers.org/snomedct/266143009|UMLS:C0007947|DOID:13778|http://identifiers.org/mesh/D002602	gard_rare
HP:0000546	biolink:PhenotypicFeature	Retinal degeneration	A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.	MSH:D012162|SNOMEDCT_US:95695004|UMLS:C0035304	mondo.json	Retina degeneration	http://purl.obolibrary.org/obo/HP_0000546		hposlim_core
HP:0000549	biolink:PhenotypicFeature	Abnormal conjugate eye movement	Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.	UMLS:C1845274	mondo.json	Disconjugate eye movements	http://purl.obolibrary.org/obo/HP_0000549		
MONDO:0013758	biolink:Disease	Charcot-Marie-Tooth disease dominant intermediate E	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterised by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown.	Orphanet:93114|UMLS:C3280845|OMIM:614455|SCTID:722294004|DOID:0110205|GARD:0012011|UMLS:C4302667	mondo.json	CMTDIE|Charcot-Marie-Tooth disease dominant intermediate E|Charcot-Marie-Tooth disease dominant intermediate type E|Charcot-Marie-Tooth disease, dominant Intermediate type E|Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis|autosomal dominant intermediate Charcot-Marie-Tooth disease type E|Charcot-Marie-Tooth disease, dominant intermediate E|Charcot-Marie-Tooth disease - nephropathy|Charcot-Marie-Tooth disease-nephropathy syndrome	http://purl.obolibrary.org/obo/MONDO_0013758	DOID:0110205|UMLS:C4302667|https://omim.org/entry/614455|http://identifiers.org/snomedct/722294004|Orphanet:93114|UMLS:C3280845	ordo_disease
NCBITaxon:5819	biolink:OrganismalEntity	Haemosporida		GC_ID:1	mondo.json	Haemosporina|Haemospororida|haemosporidians	http://purl.obolibrary.org/obo/NCBITaxon_5819		
MONDO:0013759	biolink:Disease	melanoma, cutaneous malignant, susceptibility to, 8	An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.	Orphanet:293822|OMIM:614456	mondo.json	melanoma and renal cell carcinoma, susceptibility to|melanoma, cutaneous malignant, susceptibility to, type 8|melanoma, cutaneous malignant, susceptibility to, 8|MITF-related melanoma and renal cell carcinoma predisposition syndrome|susceptibility to cutaneous malignant melanoma 8|CMM8	http://purl.obolibrary.org/obo/MONDO_0013759	https://omim.org/entry/614456|Orphanet:293822	predisposition|ordo_disease
MONDO:0001792	biolink:Disease	epiphora due to insufficient drainage		DOID:13756|UMLS:C0155234|SCTID:85042000|ICD9:375.22	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001792	UMLS:C0155234|DOID:13756|http://identifiers.org/snomedct/85042000	
MONDO:0001791	biolink:Disease	neonatal urinary tract infectious disease		ICD9:771.82|SCTID:12301009|DOID:1375|UMLS:C0235815	mondo.json	urinary tract infection of newborn	http://purl.obolibrary.org/obo/MONDO_0001791	UMLS:C0235815|DOID:1375|http://identifiers.org/snomedct/12301009	
MONDO:0001790	biolink:Disease	spinal cord lipoma	A benign adipose tissue neoplasm of the spinal cord. It is usually associated with dysraphism in which the intraspinal component communicates with a subcutaneous lipoma through a defect in the posterior elements of the spine. Non-dysraphic intramedullary spinal cord lipomas are very rare.	SCTID:189017000|ICD9:214.8|DOID:13743|NCIT:C4619|UMLS:C0347446	mondo.json	lipoma of spinal cord|spinal cord lipoma	http://purl.obolibrary.org/obo/MONDO_0001790	DOID:13743|http://identifiers.org/snomedct/189017000|UMLS:C0347446|NCIT:C4619	
MONDO:0013763	biolink:Disease	Joubert syndrome 15	Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene.	UMLS:C3280897|DOID:0110984|OMIM:614464	mondo.json	Joubert syndrome 12/15, digenic|Joubert syndrome caused by mutation in CEP41|Joubert syndrome 9/15, digenic|CEP41 Joubert syndrome|JBTS15|Joubert syndrome type 15|Joubert syndrome 15	http://purl.obolibrary.org/obo/MONDO_0013763	DOID:0110984|https://omim.org/entry/614464|UMLS:C3280897	
MONDO:0011100	biolink:Disease	microcephaly, retinitis pigmentosa, and sutural cataract		MESH:C563296|OMIM:601537|UMLS:C1832214	mondo.json	microcephaly, retinitis pigmentosa, and sutural cataract	http://purl.obolibrary.org/obo/MONDO_0011100	http://identifiers.org/mesh/C563296|https://omim.org/entry/601537|UMLS:C1832214	
MONDO:0013764	biolink:Disease	Joubert syndrome 16	Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene.	OMIM:614465|DOID:0110985|UMLS:C3280906	mondo.json	JBTS16|Joubert syndrome caused by mutation in TMEM138|Joubert syndrome type 16|TMEM138 Joubert syndrome|Joubert syndrome 16	http://purl.obolibrary.org/obo/MONDO_0013764	https://omim.org/entry/614465|DOID:0110985|UMLS:C3280906	
MONDO:0013761	biolink:Disease	childhood encephalopathy due to thiamine pyrophosphokinase deficiency		OMIM:614458|UMLS:C3280866|Orphanet:293955	mondo.json	encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency|childhood encephalopathy due to thiamine pyrophosphokinase deficiency|thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)|THMD5	http://purl.obolibrary.org/obo/MONDO_0013761	https://omim.org/entry/614458|Orphanet:293955|UMLS:C3280866	ordo_disease
MONDO:0011102	biolink:Disease	autosomal dominant nonsyndromic hearing loss 12	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene.	OMIM:601543|MESH:C563295|DOID:0110544|UMLS:C1832187	mondo.json	DFNA8|deafness, autosomal dominant type 12|DFNA12|deafness, autosomal dominant 8|autosomal dominant deafness 12|autosomal dominant nonsyndromic deafness type 12|autosomal dominant nonsyndromic deafness caused by mutation in TECTA|deafness, autosomal dominant 12|autosomal dominant deafness 8|deafness, autosomal dominant 8/12|TECTA autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness 12	http://purl.obolibrary.org/obo/MONDO_0011102	DOID:0110544|http://identifiers.org/mesh/C563295|https://omim.org/entry/601543|UMLS:C1832187	
MONDO:0011101	biolink:Disease	peroxisome biogenesis disorder 1B		Orphanet:772|UMLS:CN168921|UMLS:C0282527|OMIM:601539|Orphanet:44	mondo.json	adrenoleukodystrophy, autosomal neonatal|PBD1B|peroxisome biogenesis disorder 1B|peroxisome biogenesis disorder type 1B|infantile phytanic acid storage disease|Refsum disease, infantile|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease)|peroxisome biogenesis disorder (NALD/Ird)|peroxisome biogenesis disorder 1B (NALD/IRD)	http://purl.obolibrary.org/obo/MONDO_0011101	https://omim.org/entry/601539|UMLS:CN168921	
MONDO:0013762	biolink:Disease	lipoic acid synthetase deficiency	Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person.	UMLS:C3280887|OMIM:614462|Orphanet:401859|GARD:0012678	mondo.json	pyruvate dehydrogenase lipoic acid synthetase deficiency|hyperglycinemia, lactic acidosis, and seizures|HGCLAS|PDHLD	http://purl.obolibrary.org/obo/MONDO_0013762	https://omim.org/entry/614462|UMLS:C3280887|Orphanet:401859	ordo_disease|gard_rare
MONDO:0011104	biolink:Disease	cataract 3 multiple types	Any cataract (disease) in which the cause of the disease is a mutation in the CRYBB2 gene.	Orphanet:98989|OMIM:601547|Orphanet:1377|Orphanet:98985|UMLS:C1832175|Orphanet:98994|Orphanet:91492|DOID:0110269|Orphanet:98991|MESH:C563294	mondo.json	cataract 3, multiple types, with or without microcornea|congenital cerulean type cataract 2|CCA2|cataract (disease) caused by mutation in CRYBB2|cataract 3, multiple types|cataract, congenital, cerulean type, 2|CRYBB2 cataract (disease)|cataract 3 multiple types with or without microcornea|CTRCT3	http://purl.obolibrary.org/obo/MONDO_0011104	UMLS:C1832175|DOID:0110269|http://identifiers.org/mesh/C563294|https://omim.org/entry/601547	
MONDO:0013767	biolink:Disease	autoimmune lymphoproliferative syndrome type 4	RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.	DOID:0110117|SCTID:723508002|UMLS:C2674723|OMIM:614470|Orphanet:268114	mondo.json	autoimmune lymphoproliferative syndrome type 4|ALPS4|RAS-associated autoimmune leukoproliferative disorder|RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic|autoimmune lymphoproliferative syndrome, type 4|NRAS autoimmune lymphoproliferative syndrome|ALPS type IV|ALPS type 4|RALD|autoimmune lymphoproliferative syndrome type IV|RAS-associated autoimmune leukoproliferative disease|autoimmune lymphoproliferative syndrome caused by mutation in NRAS	http://purl.obolibrary.org/obo/MONDO_0013767	Orphanet:268114|DOID:0110117|UMLS:C2674723|https://omim.org/entry/614470|http://identifiers.org/snomedct/723508002	ordo_disease
MONDO:0011103	biolink:Disease	autosomal dominant nonsyndromic hearing loss 3A	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene.	OMIM:601544|MESH:C567277|GARD:0009933|UMLS:C2675750|DOID:0110564	mondo.json	deafness, autosomal dominant nonsyndromic sensorineural 3|autosomal dominant nonsyndromic deafness caused by mutation in GJB2|autosomal dominant nonsyndromic deafness 3A|neurosensory nonsyndromic dominant deafness 1|DFNA3|deafness, autosomal dominant type 3A|deafness, autosomal dominant 3a|GJB2 autosomal dominant nonsyndromic deafness|autosomal dominant deafness 3A|NSRD1|DFNA3A|deafness, autosomal dominant 3A|autosomal dominant nonsyndromic deafness type 3A	http://purl.obolibrary.org/obo/MONDO_0011103	http://identifiers.org/mesh/C567277|UMLS:C2675750|DOID:0110564|https://omim.org/entry/601544	
MONDO:0013768	biolink:Disease	arterial calcification, generalized, of infancy, 2	Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene.	UMLS:C3276161|OMIM:614473	mondo.json	GACI2|ABCC6 arterial calcification of infancy|arterial calcification, generalized, of infancy, type 2|arterial calcification of infancy caused by mutation in ABCC6|arterial calcification, generalized, of infancy, 2	http://purl.obolibrary.org/obo/MONDO_0013768	UMLS:C3276161|https://omim.org/entry/614473	
MONDO:0011106	biolink:Disease	facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.	Orphanet:412022|UMLS:C1832167|OMIM:601552|MESH:C563293	mondo.json	Traboulsi syndrome|FDLAB|ectopia lentis, spontaneous filtering blebs, and craniofacial Dysmorphism|facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome|facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs|facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome|FDLAB syndrome	http://purl.obolibrary.org/obo/MONDO_0011106	Orphanet:412022|UMLS:C1832167|http://identifiers.org/mesh/C563293|https://omim.org/entry/601552	ordo_malformation_syndrome
MONDO:0013765	biolink:Disease	coronary heart disease, susceptibility to, 6	Any coronary artery disease in which the cause of the disease is a mutation in the MMP3 gene.	OMIM:614466	mondo.json	MMP3 coronary artery disease|coronary heart disease, susceptibility to, type 6|coronary artery disease caused by mutation in MMP3|CHDS6|susceptibility to coronary heart disease 6|coronary heart disease, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0013765	https://omim.org/entry/614466	predisposition
MONDO:0011105	biolink:Disease	alacrima, congenital, autosomal recessive		UMLS:C4012597|OMIM:601549	mondo.json	alacrima, congenital, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0011105	UMLS:C4012597|https://omim.org/entry/601549	
MONDO:0013766	biolink:Disease	familial cold autoinflammatory syndrome 3	PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.	OMIM:614468|UMLS:C3280914|Orphanet:300359|DOID:0090064	mondo.json	familial cold autoinflammatory syndrome type 3|FACU|antibody deficiency and immune dysregulation, PLCG2-associated|FCAS3|plaid|familial cold urticaria with common variable immunodeficiency|PLCG2 familial cold autoinflammatory syndrome|familial atypical cold urticaria|familial cold autoinflammatory syndrome caused by mutation in PLCG2|familial cold autoinflammatory syndrome 3|PLCG2-associated antibody deficiency and immune dysregulation	http://purl.obolibrary.org/obo/MONDO_0013766	DOID:0090064|https://omim.org/entry/614468|Orphanet:300359|UMLS:C3280914	ordo_disease
MONDO:0013760	biolink:Disease	congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome		OMIM:614457|UMLS:C3280856|Orphanet:352333	mondo.json	ISQMR|congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome|ichthyosis, spastic quadriplegia, and intellectual disability|ichthyosis, spastic quadriplegia, and mental retardation	http://purl.obolibrary.org/obo/MONDO_0013760	https://omim.org/entry/614457|UMLS:C3280856|Orphanet:352333	ordo_disease
NCBITaxon:37104	biolink:OrganismalEntity	Trichomonadida		GC_ID:1|PMID:20093080	mondo.json	trichomonads|trichomonads	http://purl.obolibrary.org/obo/NCBITaxon_37104		
CHEBI:30768	biolink:ChemicalSubstance	propionic acid	A short-chain saturated fatty acid comprising ethane attached to the carbon of a carboxy group.		mondo.json	propioic acid|ethanecarboxylic acid|propanoic acid|metacetonic acid|propoic acid|Propionsaeure|acide propionique|CH3-CH2-COOH|Propanoic acid|PROPANOIC ACID|pseudoacetic acid|Propionic acid|ethylformic acid|methylacetic acid|propionic acid|PA|carboxyethane|acide propanoique	http://purl.obolibrary.org/obo/CHEBI_30768		
NCBITaxon:5864	biolink:OrganismalEntity	Babesia		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5864		
GO:1904319	biolink:NamedThing	negative regulation of smooth muscle contraction involved in micturition	Any process that stops, prevents or reduces the frequency, rate or extent of smooth muscle contraction involved in micturition.		mondo.json	down-regulation of urinary bladder smooth muscle contraction involved in micturition|negative regulation of urinary bladder smooth muscle contraction involved in micturition|downregulation of smooth muscle contraction involved in urination|down regulation of urinary bladder smooth muscle contraction involved in micturition|down-regulation of smooth muscle contraction involved in micturition|inhibition of smooth muscle contraction involved in urination|downregulation of urinary bladder smooth muscle contraction involved in micturition|down regulation of smooth muscle contraction involved in micturition|negative regulation of smooth muscle contraction involved in urination|down-regulation of smooth muscle contraction involved in urination|inhibition of smooth muscle contraction involved in micturition|downregulation of smooth muscle contraction involved in micturition|inhibition of urinary bladder smooth muscle contraction involved in micturition|down regulation of smooth muscle contraction involved in urination	http://purl.obolibrary.org/obo/GO_1904319		
NCBITaxon:5863	biolink:OrganismalEntity	Piroplasmida		GC_ID:1	mondo.json	Piroplasmids	http://purl.obolibrary.org/obo/NCBITaxon_5863		
GO:1904318	biolink:NamedThing	regulation of smooth muscle contraction involved in micturition	Any process that modulates the frequency, rate or extent of smooth muscle contraction involved in micturition.		mondo.json	regulation of urinary bladder smooth muscle contraction involved in micturition|regulation of smooth muscle contraction involved in urination	http://purl.obolibrary.org/obo/GO_1904318		
CL:0000646	biolink:Cell	basal cell	Undifferentiated; mitotic stem cell for other epithelial cell types; rounded or elliptical with little cytoplasm and few organelles; contain cytokeratin intermediate filament.	BTO:0000939|FMA:62516	mondo.json		http://purl.obolibrary.org/obo/CL_0000646		
GO:1904315	biolink:NamedThing	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	Any transmitter-gated ion channel activity that is involved in regulation of postsynaptic membrane potential.		mondo.json	ionotropic neurotransmitter receptor activity involved in regulation of post-synaptic membrane potential|ionotropic neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential	http://purl.obolibrary.org/obo/GO_1904315		
CL:0000649	biolink:Cell	prickle cell	A cell with delicate radiating processes known as desmosomes that form intercellular bridges between other cells of this type. This cell type forms the stratum spinosum (prickle cell layer). A function of this cell is to generate keratin.	FMA:69059	mondo.json	prickle cell of epidermis	http://purl.obolibrary.org/obo/CL_0000649		
UBERON:0010543	biolink:AnatomicalEntity	acropodial skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010543		
UBERON:0010540	biolink:AnatomicalEntity	tarsus pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010540		
UBERON:0010541	biolink:AnatomicalEntity	tarsus cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010541		
UBERON:0010535	biolink:AnatomicalEntity	primitive metanephric nephron			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010535		
GO:1904320	biolink:NamedThing	positive regulation of smooth muscle contraction involved in micturition	Any process that activates or increases the frequency, rate or extent of smooth muscle contraction involved in micturition.		mondo.json	positive regulation of smooth muscle contraction involved in urination|up-regulation of urinary bladder smooth muscle contraction involved in micturition|up regulation of urinary bladder smooth muscle contraction involved in micturition|upregulation of smooth muscle contraction involved in urination|activation of smooth muscle contraction involved in urination|up-regulation of smooth muscle contraction involved in micturition|positive regulation of urinary bladder smooth muscle contraction involved in micturition|up regulation of smooth muscle contraction involved in micturition|activation of smooth muscle contraction involved in micturition|upregulation of urinary bladder smooth muscle contraction involved in micturition|up-regulation of smooth muscle contraction involved in urination|activation of urinary bladder smooth muscle contraction involved in micturition|up regulation of smooth muscle contraction involved in urination|upregulation of smooth muscle contraction involved in micturition	http://purl.obolibrary.org/obo/GO_1904320		
NCBITaxon:171549	biolink:OrganismalEntity	Bacteroidales		PMID:28905708|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_171549		
UBERON:0010536	biolink:AnatomicalEntity	nephron progenitor			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010536		
GO:0015812	biolink:NamedThing	gamma-aminobutyric acid transport	The directed movement of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	4-aminobutyrate transport|4-aminobutanoate transport|GABA transport	http://purl.obolibrary.org/obo/GO_0015812		
UBERON:0010533	biolink:AnatomicalEntity	metanephros cortex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010533		
UBERON:0009559	biolink:AnatomicalEntity	metacarpal/tarsal-phalangeal joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009559		
UBERON:0010534	biolink:AnatomicalEntity	primitive mesonephric nephron			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010534		
UBERON:0010537	biolink:AnatomicalEntity	mesonephric nephron progenitor			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010537		
CL:0000642	biolink:Cell	folliculostellate cell	A supportive cell of the vertebrate pituitary that provides macromolecular transport and secretes hormones.		mondo.json		http://purl.obolibrary.org/obo/CL_0000642		
UBERON:0010538	biolink:AnatomicalEntity	paired limb/fin segment			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010538		
CHEBI:30762	biolink:ChemicalSubstance	salicylate	A monohydroxybenzoate that is the conjugate base of salicylic acid.		mondo.json	2-hydroxybenzoic acid ion(1-)|o-hydroxybenzoate|sal|2-hydroxybenzoate|salicylate|Salicylate	http://purl.obolibrary.org/obo/CHEBI_30762		
UBERON:0009550	biolink:AnatomicalEntity	endoderm of foregut-midgut junction			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009550		
UBERON:0009551	biolink:AnatomicalEntity	distal segment of digit			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009551		
UBERON:0009552	biolink:AnatomicalEntity	distal segment of manual digit			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009552		
CHEBI:17781	biolink:ChemicalSubstance	lumichrome	A compound showing blue fluorescence, formed by a photolysis of riboflavin in acid or neutral solution.		mondo.json	7,8-Dimethylalloxazine|LUMICHROME|Lumichrome|lumichrome|7,8-dimethylbenzo[g]pteridine-2,4(1H,3H)-dione	http://purl.obolibrary.org/obo/CHEBI_17781		
UBERON:0009553	biolink:AnatomicalEntity	distal segment of pedal digit			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009553		
GO:0003842	biolink:NamedThing	1-pyrroline-5-carboxylate dehydrogenase activity	Catalysis of the reaction: 1-pyrroline-5-carboxylate + NAD+ + H2O = L-glutamate + NADH + H(+).		mondo.json	1-pyrroline dehydrogenase|L-pyrroline-5-carboxylate-NAD+ oxidoreductase activity|delta1-pyrroline-5-carboxylate dehydrogenase activity|pyrroline-5-carboxylate dehydrogenase activity|pyrroline-5-carboxylic acid dehydrogenase activity|1-pyrroline-5-carboxylate:NAD+ oxidoreductase activity	http://purl.obolibrary.org/obo/GO_0003842		
GO:0003845	biolink:NamedThing	11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity	Catalysis of the reaction: an 11-beta-hydroxysteroid + NAD(P)+ = an 11-oxosteroid + NAD(P)H + H(+).		mondo.json	corticosteroid 11-reductase|11beta-hydroxysteroid dehydrogenase|beta-hydroxysteroid dehydrogenase|11beta-hydroxy steroid dehydrogenase|corticosteroid 11beta-dehydrogenase	http://purl.obolibrary.org/obo/GO_0003845		
NCBITaxon:5878	biolink:OrganismalEntity	Ciliophora		GC_ID:6	mondo.json	ciliates|ciliates|Ciliata	http://purl.obolibrary.org/obo/NCBITaxon_5878		
NCBITaxon:5873	biolink:OrganismalEntity	Theileria		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_5873		
NCBITaxon:37162	biolink:OrganismalEntity	Mycobacterium avium complex sp.		GC_ID:11	mondo.json	Mycobacterium avium complex bacterium	http://purl.obolibrary.org/obo/NCBITaxon_37162		
CL:0000656	biolink:Cell	primary spermatocyte	A diploid cell that has derived from a spermatogonium and can subsequently begin meiosis and divide into two haploid secondary spermatocytes.	CALOHA:TS-2194|BTO:0001115|FMA:72292	mondo.json		http://purl.obolibrary.org/obo/CL_0000656		
HGNC:7849	biolink:NamedThing	NME1			mondo.json		http://identifiers.org/hgnc/7849		
CL:0000657	biolink:Cell	secondary spermatocyte	One of the two haploid cells into which a primary spermatocyte divides, and which in turn gives origin to spermatids.	CALOHA:TS-2195|BTO:0000709|FMA:72293|FBbt:00004941	mondo.json		http://purl.obolibrary.org/obo/CL_0000657		
UBERON:0010531	biolink:AnatomicalEntity	metanephros induced blastemal cells			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010531		
UBERON:0010532	biolink:AnatomicalEntity	primitive nephron			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010532		
GO:0062125	biolink:NamedThing	regulation of mitochondrial gene expression	Any process that modulates the frequency, rate or extent of mitochondrial gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).		mondo.json		http://purl.obolibrary.org/obo/GO_0062125		
UBERON:0009548	biolink:AnatomicalEntity	hepatic sinusoid of left of lobe of liver			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009548		
UBERON:0010522	biolink:AnatomicalEntity	replacement element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010522		
UBERON:0010523	biolink:AnatomicalEntity	microcirculatory vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010523		
CHR:9606-chr6q11-q14	biolink:NamedThing	6q11-q14 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr6q11-q14		
UBERON:0009549	biolink:AnatomicalEntity	hepatic sinusoid of right of lobe of liver			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009549		
UBERON:0010528	biolink:AnatomicalEntity	pneumatic cavity of bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010528		
CL:0000652	biolink:Cell	pinealocyte	This cell type produces and secretes melatonin and forms the pineal parenchyma. Extending from each cell body, which has a spherical, oval or lobulated mucleus, are one or more tortuous basophilic processes, containing parallel microtubules known as synaptic ribbons. These processes end in expanded terminal buds near capillaries or less, frequently, ependymal cells of the pineal recess. The terminal buds contain granular endoplasmic reticulum, mitochondria and electron-dense cored vesicles, which store monoamines and polypeptide hormones, release of which appears to require sympathetic innervation.	BTO:0001068|FMA:83417	mondo.json		http://purl.obolibrary.org/obo/CL_0000652		
HGNC:7856	biolink:NamedThing	NQO2			mondo.json		http://identifiers.org/hgnc/7856		
UBERON:0010527	biolink:AnatomicalEntity	cavity of bone organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010527		
GO:0003810	biolink:NamedThing	protein-glutamine gamma-glutamyltransferase activity	Catalysis of the reaction: protein glutamine + alkylamine = protein N5-alkylglutamine + NH3. This reaction is the formation of the N6-(L-isoglutamyl)-L-lysine isopeptide, resulting in cross-linking polypeptide chains; the gamma-carboxamide groups of peptidyl-glutamine residues act as acyl donors, and the 6-amino-groups of peptidyl-lysine residues act as acceptors, to give intra- and intermolecular N6-(5-glutamyl)lysine cross-links.		mondo.json	polyamine transglutaminase activity|factor XIIIa|protein-glutamine:amine gamma-glutamyltransferase|R-glutaminyl-peptide:amine gamma-glutamyl transferase activity|transglutaminase activity|tissue transglutaminase|fibrin stabilizing factor|glutaminylpeptide gamma-glutamyltransferase activity|TGase activity|fibrinoligase activity	http://purl.obolibrary.org/obo/GO_0003810		
CHEBI:30746	biolink:ChemicalSubstance	benzoic acid	A compound comprising a benzene ring core carrying a carboxylic acid substituent.		mondo.json	Benzenecarboxylic acid|E210|Phenylformic acid|Benzenemethanoic acid|Benzoic acid|BENZOIC ACID|benzoic acid|Benzoesaeure|Phenylcarboxylic acid|Aromatic carboxylic acid|Benzeneformic acid|Dracylic acid|acide benzoique	http://purl.obolibrary.org/obo/CHEBI_30746		
CHEBI:30742	biolink:ChemicalSubstance	ethylene glycol	A 1,2-glycol compound produced via reaction of ethylene oxide with water.		mondo.json	Glycol|ethane-1,2-diol|Monoethylene glycol|1,2-ETHANEDIOL|1,2-Ethanediol|1,2-Dihydroxyethane|Ethylene glycol|ethylene glycol|Ethanediol|HO-CH2-CH2-OH|2-Hydroxyethanol	http://purl.obolibrary.org/obo/CHEBI_30742		
CL:0000622	biolink:Cell	acinar cell	A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus).	FMA:83625	mondo.json	acinous cell|acinic cell	http://purl.obolibrary.org/obo/CL_0000622		
CL:0000623	biolink:Cell	natural killer cell	A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells.	FMA:83601|BTO:0004716|FMA:63147|VHOG:0001697|CALOHA:TS-0664|BTO:0000914	mondo.json	large granular lymphocyte|NK cell|null cell	http://purl.obolibrary.org/obo/CL_0000623		
HGNC:10727	biolink:NamedThing	SEMA3E			mondo.json		http://identifiers.org/hgnc/10727		
CL:0000624	biolink:Cell	CD4-positive, alpha-beta T cell	A mature alpha-beta T cell that expresses an alpha-beta T cell receptor and the CD4 coreceptor.		mondo.json	CD4-positive, alpha-beta T-cell|CD4-positive, alpha-beta T lymphocyte|CD4-positive, alpha-beta T-lymphocyte	http://purl.obolibrary.org/obo/CL_0000624		
CL:0000625	biolink:Cell	CD8-positive, alpha-beta T cell	A T cell expressing an alpha-beta T cell receptor and the CD8 coreceptor.		mondo.json	CD8-positive, alpha-beta T-cell|CD8-positive, alpha-beta T lymphocyte|CD8-positive, alpha-beta T-lymphocyte	http://purl.obolibrary.org/obo/CL_0000625		
CL:0000626	biolink:Cell	olfactory granule cell	Granule cell that is part of the olfactory bulb.		mondo.json		http://purl.obolibrary.org/obo/CL_0000626		
CL:0000627	biolink:Cell	transporting cell	A cell involved in transporting nutrients, minerals, water, gases and other chemicals between cells for a variety of purposes including conveying nutrition to other tissues, removing waste products from the tissues, conveying gases for respiration, distributing heat and repelling invasion of foreign substances.		mondo.json		http://purl.obolibrary.org/obo/CL_0000627		
HGNC:10729	biolink:NamedThing	SEMA4A			mondo.json		http://identifiers.org/hgnc/10729		
HGNC:5201	biolink:NamedThing	HS6ST1			mondo.json		http://identifiers.org/hgnc/5201		
UBERON:0009536	biolink:AnatomicalEntity	vascular element of left lung			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009536		
HGNC:7863	biolink:NamedThing	NNT			mondo.json		http://identifiers.org/hgnc/7863		
HGNC:7866	biolink:NamedThing	NOG			mondo.json		http://identifiers.org/hgnc/7866		
UBERON:0009537	biolink:AnatomicalEntity	vascular element of right lung			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009537		
HGNC:7865	biolink:NamedThing	NODAL			mondo.json		http://identifiers.org/hgnc/7865		
UBERON:0009538	biolink:AnatomicalEntity	mesenchyme of sublingual gland primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009538		
UBERON:0009539	biolink:AnatomicalEntity	mesenchyme of submandibular gland primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009539		
HGNC:7869	biolink:NamedThing	NOL3			mondo.json		http://identifiers.org/hgnc/7869		
HGNC:5208	biolink:NamedThing	HSD11B1			mondo.json		http://identifiers.org/hgnc/5208		
UBERON:2005260	biolink:AnatomicalEntity	fenestrated capillary			mondo.json		http://purl.obolibrary.org/obo/UBERON_2005260		
NCBITaxon:5855	biolink:OrganismalEntity	Plasmodium vivax		GC_ID:1	mondo.json	Haemamoeba vivax Grassi and Feletti, 1890|malaria parasite P. vivax|Haemamoeba vivax	http://purl.obolibrary.org/obo/NCBITaxon_5855		
HGNC:5209	biolink:NamedThing	HSD11B2			mondo.json		http://identifiers.org/hgnc/5209		
CL:0000636	biolink:Cell	Mueller cell	Astrocyte-like radial glial cell that extends vertically throughout the retina, with the nucleus are usually in the middle of the inner nuclear layer.	BTO:0003064	mondo.json	Muller glia|Müller cell	http://purl.obolibrary.org/obo/CL_0000636		
CL:0000637	biolink:Cell	chromophil cell of anterior pituitary gland	A cell that stains readily in the anterior pituitary gland.	FMA:83089	mondo.json		http://purl.obolibrary.org/obo/CL_0000637		
GO:0015804	biolink:NamedThing	neutral amino acid transport	The directed movement of neutral amino acids, amino acids with no net charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0015804		
CL:0000638	biolink:Cell	acidophil cell of pars distalis of adenohypophysis	An acidophilic chromophil cell that of the anterior pituitary gland.	FMA:83093	mondo.json	acidophil cell of pars anterior of adenohypophysis|acidophil of pars anterior of adenohypophysis|acidophil of pars distalis of adenohypophysis|pituitary alpha cell	http://purl.obolibrary.org/obo/CL_0000638		
HGNC:5212	biolink:NamedThing	HSD17B3			mondo.json		http://identifiers.org/hgnc/5212		
HGNC:5213	biolink:NamedThing	HSD17B4			mondo.json		http://identifiers.org/hgnc/5213		
GO:0015800	biolink:NamedThing	acidic amino acid transport	The directed movement of acidic amino acids, amino acids with a pH below 7, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0015800		
GO:0062149	biolink:NamedThing	detection of stimulus involved in sensory perception of pain	The series of events involved in the perception of pain in which a stimulus is received and converted into a molecular signal.		mondo.json		http://purl.obolibrary.org/obo/GO_0062149		
ENVO:2000045	biolink:NamedThing	hydrocarbon-based environmental material			mondo.json		http://purl.obolibrary.org/obo/ENVO_2000045		
UBERON:0009526	biolink:AnatomicalEntity	maxillary process mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009526		
HGNC:7876	biolink:NamedThing	NOS3			mondo.json		http://identifiers.org/hgnc/7876		
UBERON:0010506	biolink:AnatomicalEntity	meningeal dura mater			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010506		
CHEBI:42724	biolink:ChemicalSubstance	(R)-amphetamine	A 1-phenylpropan-2-amine that has R configuration.		mondo.json	(2R)-1-phenylpropan-2-amine|(R)-amphetamine|levamfetamine|(-)-amphetamine|(-)-phenylisopropylamine|(R)-alpha-methylphenethylamine|levamphetamine|(R)-alpha-methylbenzeneethanamine	http://purl.obolibrary.org/obo/CHEBI_42724		
CL:0000630	biolink:Cell	supporting cell	A cell whose primary function is to support other cell types.	BTO:0002315	mondo.json	supportive cell	http://purl.obolibrary.org/obo/CL_0000630		
UBERON:0010507	biolink:AnatomicalEntity	layer of dura mater			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010507		
HGNC:5218	biolink:NamedThing	HSD3B2			mondo.json		http://identifiers.org/hgnc/5218		
CHEBI:30751	biolink:ChemicalSubstance	formic acid	The simplest carboxylic acid, containing a single carbon. Occurs naturally in various sources including the venom of bee and ant stings, and is a useful organic synthetic reagent. Principally used as a preservative and antibacterial agent in livestock feed. Induces severe metabolic acidosis and ocular injury in human subjects.		mondo.json	hydrogen carboxylic acid|Acide formique|formic acid|FORMIC ACID|Formic acid|aminic acid|methoic acid|bilorin|Ameisensaeure|HCOOH|Methanoic acid|formylic acid|HCO2H|H-COOH	http://purl.obolibrary.org/obo/CHEBI_30751		
NCBITaxon:88770	biolink:OrganismalEntity	Panarthropoda		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_88770		
CHEBI:17792	biolink:ChemicalSubstance	organohalogen compound	A compound containing at least one carbon-halogen bond (where X is a halogen atom).		mondo.json	organic halide|organic halides|RX|organohalogen compounds	http://purl.obolibrary.org/obo/CHEBI_17792		
HGNC:7871	biolink:NamedThing	NONO			mondo.json		http://identifiers.org/hgnc/7871		
GO:0003824	biolink:NamedThing	catalytic activity	Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic.		mondo.json	enzyme activity	http://purl.obolibrary.org/obo/GO_0003824		
UBERON:0009521	biolink:AnatomicalEntity	anal membrane endodermal component			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009521		
CHEBI:17790	biolink:ChemicalSubstance	methanol	The primary alcohol that is the simplest aliphatic alcohol, comprising a methyl and an alcohol group.		mondo.json	methanol|METHANOL|Methanol|wood alcohol|Methylalkohol|CH3OH|spirit of wood|wood spirit|MeOH|carbinol|wood naphtha|Methyl alcohol	http://purl.obolibrary.org/obo/CHEBI_17790		
UBERON:0009522	biolink:AnatomicalEntity	lateral lingual swelling epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009522		
HGNC:7873	biolink:NamedThing	NOS2			mondo.json		http://identifiers.org/hgnc/7873		
UBERON:0009523	biolink:AnatomicalEntity	mesenchyme of handplate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009523		
MONDO:0001723	biolink:Disease	progressive peripheral pterygium		ICD9:372.42|DOID:13474|SCTID:193881001|UMLS:C0155155	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001723	http://identifiers.org/snomedct/193881001|DOID:13474|UMLS:C0155155	
MONDO:0001722	biolink:Disease	central pterygium		ICD9:372.43|DOID:13473|SCTID:43300008|UMLS:C0155156	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001722	http://identifiers.org/snomedct/43300008|UMLS:C0155156|DOID:13473	
MONDO:0001721	biolink:Disease	urethral intrinsic sphincter deficiency		ICD9:599.82|UMLS:C0375381|DOID:13461	mondo.json	intrinsic (urethral) sphincter deficiency [ISD]	http://purl.obolibrary.org/obo/MONDO_0001721	UMLS:C0375381|DOID:13461	
MONDO:0001720	biolink:Disease	gonococcal synovitis	An synovitis (disease) caused by infection with Neisseria gonorrhoeae.	SCTID:266138002|DOID:13454|UMLS:C0343714|UMLS:C0275662|ICD9:098.51	mondo.json	gonococcal synovitis and tenosynovitis|gonococcal synovitis or tenosynovitis|gonococcal synovitis &/or tenosynovitis	http://purl.obolibrary.org/obo/MONDO_0001720	UMLS:C0275662|UMLS:C0343714|http://identifiers.org/snomedct/266138002|DOID:13454	
MONDO:0013705	biolink:Disease	intellectual disability, autosomal recessive 19		OMIM:614343|UMLS:C3280541	mondo.json	mental retardation, autosomal recessive 19|intellectual disability, autosomal recessive 19|MRT19	http://purl.obolibrary.org/obo/MONDO_0013705	https://omim.org/entry/614343|UMLS:C3280541	
MONDO:0013706	biolink:Disease	intellectual disability, autosomal recessive 23		OMIM:614344|UMLS:C3280542	mondo.json	intellectual disability, autosomal recessive 23|MRT23|mental retardation, autosomal recessive 23	http://purl.obolibrary.org/obo/MONDO_0013706	https://omim.org/entry/614344|UMLS:C3280542	
MONDO:0013703	biolink:Disease	intellectual disability, autosomal recessive 33		OMIM:614341|UMLS:C3280539	mondo.json	intellectual disability, autosomal recessive 33|mental retardation, autosomal recessive 33|MRT33	http://purl.obolibrary.org/obo/MONDO_0013703	https://omim.org/entry/614341|UMLS:C3280539	
HGNC:10702	biolink:NamedThing	SEC23B			mondo.json		http://identifiers.org/hgnc/10702		
UBERON:0010580	biolink:AnatomicalEntity	pedal digit 1 phalanx pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010580		
MONDO:0013704	biolink:Disease	intellectual disability, autosomal recessive 30		OMIM:614342|UMLS:C3280540	mondo.json	intellectual disability, autosomal recessive 30|MRT30|mental retardation, autosomal recessive 30	http://purl.obolibrary.org/obo/MONDO_0013704	https://omim.org/entry/614342|UMLS:C3280540	
MONDO:0013709	biolink:Disease	intellectual disability, autosomal recessive 28		OMIM:614347|UMLS:C3280545	mondo.json	mental retardation, autosomal recessive 28|intellectual disability, autosomal recessive 28|MRT28	http://purl.obolibrary.org/obo/MONDO_0013709	https://omim.org/entry/614347|UMLS:C3280545	
CL:0000604	biolink:Cell	retinal rod cell	One of the two photoreceptor cell types of the vertebrate retina. In rods the photopigment is in stacks of membranous disks separate from the outer cell membrane. Rods are more sensitive to light than cones, but rod mediated vision has less spatial and temporal resolution than cone vision.	CALOHA:TS-0870|FMA:67747|BTO:0001024	mondo.json		http://purl.obolibrary.org/obo/CL_0000604		
UBERON:0010586	biolink:AnatomicalEntity	manual digit phalanx pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010586		
MONDO:0013707	biolink:Disease	intellectual disability, autosomal recessive 24		OMIM:614345|UMLS:C3280543	mondo.json	intellectual disability, autosomal recessive 24|MRT24|mental retardation, autosomal recessive 24	http://purl.obolibrary.org/obo/MONDO_0013707	https://omim.org/entry/614345|UMLS:C3280543	
UBERON:0010584	biolink:AnatomicalEntity	pedal digit 5 phalanx pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010584		
HGNC:10706	biolink:NamedThing	SEC24D			mondo.json		http://identifiers.org/hgnc/10706		
MONDO:0013708	biolink:Disease	intellectual disability, autosomal recessive 25		OMIM:614346|UMLS:C3280544	mondo.json	MRT25|mental retardation, autosomal recessive 25|intellectual disability, autosomal recessive 25	http://purl.obolibrary.org/obo/MONDO_0013708	https://omim.org/entry/614346|UMLS:C3280544	
UBERON:0010585	biolink:AnatomicalEntity	pedal digit phalanx pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010585		
UBERON:0010579	biolink:AnatomicalEntity	manual digit 5 phalanx pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010579		
GO:1904364	biolink:NamedThing	positive regulation of calcitonin secretion	Any process that activates or increases the frequency, rate or extent of calcitonin secretion.		mondo.json	up regulation of calcitonin secretion|up-regulation of calcitonin secretion|activation of calcitonin secretion|upregulation of calcitonin secretion	http://purl.obolibrary.org/obo/GO_1904364		
CHR:9606-chr16p12.1	biolink:NamedThing	16p12.1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr16p12.1		
GO:1904363	biolink:NamedThing	negative regulation of calcitonin secretion	Any process that stops, prevents or reduces the frequency, rate or extent of calcitonin secretion.		mondo.json	downregulation of calcitonin secretion|down regulation of calcitonin secretion|inhibition of calcitonin secretion|down-regulation of calcitonin secretion	http://purl.obolibrary.org/obo/GO_1904363		
GO:1904362	biolink:NamedThing	regulation of calcitonin secretion	Any process that modulates the frequency, rate or extent of calcitonin secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_1904362		
MONDO:0013712	biolink:Disease	surfactant metabolism dysfunction, pulmonary, 5	Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene.	OMIM:614370|UMLS:C3280574	mondo.json	surfactant metabolism dysfunction, pulmonary, type 5|Pap due to Csf2Rb deficiency|surfactant metabolism dysfunction, pulmonary, 5|hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB|CSF2RB hereditary pulmonary alveolar proteinosis|Csf2Rb deficiency|pulmonary alveolar proteinosis 5|SMDP5	http://purl.obolibrary.org/obo/MONDO_0013712	UMLS:C3280574|https://omim.org/entry/614370	
HGNC:5227	biolink:NamedThing	HSF4			mondo.json		http://identifiers.org/hgnc/5227		
MONDO:0013713	biolink:Disease	dengue virus, susceptibility to		OMIM:614371|Orphanet:99828	mondo.json	dengue virus, susceptibility to|Dengue shock syndrome, susceptibility to|susceptibility to dengue virus|Dengue hemorrhagic fever, susceptibility to|Dengue fever, susceptibility to|Dengue fever, protection against	http://purl.obolibrary.org/obo/MONDO_0013713	https://omim.org/entry/614371	predisposition
HGNC:5228	biolink:NamedThing	DNAJB2			mondo.json		http://identifiers.org/hgnc/5228		
MONDO:0013710	biolink:Disease	colorectal cancer, hereditary nonpolyposis, type 5	Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MSH6 gene.	DOID:0070272|OMIM:614350|MESH:C563456|UMLS:C1833477	mondo.json	HNPCC5|colorectal cancer, hereditary nonpolyposis, type 5|hereditary nonpolyposis colon cancer caused by mutation in MSH6|MSH6 hereditary nonpolyposis colon cancer	http://purl.obolibrary.org/obo/MONDO_0013710	DOID:0070272|UMLS:C1833477|http://identifiers.org/mesh/C563456|https://omim.org/entry/614350	
MONDO:0013711	biolink:Disease	peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome		UMLS:C3280556|OMIM:614369|Orphanet:397744	mondo.json	PNMHH|peripheral neuropathy, myopathy, hoarseness, and hearing loss|peripheral neuropathy-myopathy-hoarseness-deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0013711	Orphanet:397744|UMLS:C3280556|https://omim.org/entry/614369	ordo_disease
MONDO:0001716	biolink:Disease	corneal argyrosis		SCTID:21328003|UMLS:C0155108|DOID:13447|ICD9:371.16	mondo.json	argyrosis of cornea|argentous corneal deposits	http://purl.obolibrary.org/obo/MONDO_0001716	DOID:13447|UMLS:C0155108|http://identifiers.org/snomedct/21328003	
MONDO:0001715	biolink:Disease	basilar artery occlusion		ICD9:433.0|ICD9:433.01|ICD9:433.00|DOID:13446|SCTID:195180004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001715	DOID:13446|http://identifiers.org/snomedct/195180004	
MONDO:0001714	biolink:Disease	bejel	A chronic skin and tissue disease caused by infection by the endemicum subspecies of the spirochete Treponema pallidum.	DOID:13431|GARD:0005905|UMLS:C0004945|MESH:D014211	mondo.json	nonvenereal syphilis|Treponema pallidum subsp. endemicum disease or disorder|Dichuchwa|Njovera|Treponema pallidum subsp. endemicum infectious disease|endemic syphilis|nonvenereal endemic syphilis|Treponema pallidum subsp. endemicum caused disease or disorder|Frenga	http://purl.obolibrary.org/obo/MONDO_0001714	DOID:13431|UMLS:C0004945	gard_rare
MONDO:0001713	biolink:Disease	inherited aplastic anemia	An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia.	UMLS:C0949116|ICD9:284.0|ICD9:284.09|SCTID:28975000|GARD:0006149|MESH:D029502|Orphanet:68383|UMLS:C0702159|ICD10CM:D61.0|DOID:1342	mondo.json	congenital aplastic anemia|hereditary aplastic anemia|constitutional aplastic anaemia|constitutional aplastic anemia|congenital hypoplastic anemia|hypoplastic anemia - familial|rare constitutional aplastic anemia	http://purl.obolibrary.org/obo/MONDO_0001713	DOID:1342|UMLS:C0702159|http://identifiers.org/mesh/D029502|UMLS:C0949116|http://purl.bioontology.org/ontology/ICD10CM/D61.0|Orphanet:68383|http://identifiers.org/snomedct/28975000	ordo_group_of_disorders|disease_grouping
HGNC:7882	biolink:NamedThing	NOTCH2			mondo.json		http://identifiers.org/hgnc/7882		
HGNC:7881	biolink:NamedThing	NOTCH1			mondo.json		http://identifiers.org/hgnc/7881		
MONDO:0001719	biolink:Disease	gonococcal bursitis	An bursitis caused by infection with Neisseria gonorrhoeae.	SCTID:46699001|UMLS:C0153218|DOID:13453|ICD9:098.52	mondo.json	Neisseria gonorrhoeae caused bursitis|Neisseria gonorrhoeae bursitis	http://purl.obolibrary.org/obo/MONDO_0001719	DOID:13453|http://identifiers.org/snomedct/46699001|UMLS:C0153218	
MONDO:0001718	biolink:Disease	scleritis	Inflammation of the sclera.	MESH:D015423|HP:0100532|SCTID:78370002|NCIT:C119046|DOID:13452|GARD:0012911|ICD9:379.00|UMLS:C0036416	mondo.json	scleritis|scleritis (disease)	http://purl.obolibrary.org/obo/MONDO_0001718	DOID:13452|UMLS:C0036416|NCIT:C119046|http://identifiers.org/mesh/D015423|http://identifiers.org/snomedct/78370002	
MONDO:0001717	biolink:Disease	posterior corneal pigmentation		DOID:13448|UMLS:C0155106|SCTID:267639001|ICD9:371.13	mondo.json	posterior corneal pigmentations	http://purl.obolibrary.org/obo/MONDO_0001717	http://identifiers.org/snomedct/267639001|UMLS:C0155106|DOID:13448	
HGNC:7883	biolink:NamedThing	NOTCH3			mondo.json		http://identifiers.org/hgnc/7883		
MONDO:0001730	biolink:Disease	urethral syndrome		DOID:13498|SCTID:31273004|UMLS:C0156279|ICD9:597.81	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001730	UMLS:C0156279|DOID:13498|http://identifiers.org/snomedct/31273004	
MONDO:0001734	biolink:Disease	tuberous sclerosis	Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade.	GARD:0007830|OMIMPS:191100|NCIT:C3424|SCTID:7199000|GARD:0000946|Orphanet:805|MESH:D014402|MedDRA:10045138|DOID:13515|ICD9:759.5	mondo.json	TSC|Bourneville pringle disease|tuberous sclerosis Complex|tuberose sclerosis|Bourneville-pringle's disease|adenoma sebaceum syndrome|Phacomatosis, Bourneville|adenoma sebaceum|cerebral sclerosis|Bourneville-Pringles disease|Bourneville pringle's disease|ts - tuberous sclerosis|bourneville's disease|Bourneville phakomatosis|tuberous sclerosis complex|tuberous sclerosis|Bourneville's syndrome|tuberous sclerosis syndrome|sclerosis, tuberose|disease, Bourneville-pringle|Bourneville disease|syndrome, Bourneville|phakomatosis, Bourneville|sclerosis, cerebral|cerebral Scleroses|Epiloia|sclerosis, tuberous|Bourneville-pringle disease|disease, Bourneville-pringle's|sclerosis Tuberosa|syndrome, Bourneville's|Bourneville syndrome|Bourneville's disease|Bourneville Phacomatosis	http://purl.obolibrary.org/obo/MONDO_0001734	http://identifiers.org/snomedct/7199000|NCIT:C3424|http://identifiers.org/mesh/D014402|https://omim.org/phenotypicSeries/PS191100|Orphanet:805|DOID:13515	gard_rare|clingen|ordo_disease
CHEBI:29745	biolink:ChemicalSubstance	barbiturate	Conjugate base of barbituric acid.		mondo.json	2,4,6-trioxotetrahydro-2H-pyrimidin-1-ide|barbiturate anion	http://purl.obolibrary.org/obo/CHEBI_29745		
MONDO:0001733	biolink:Disease	occlusion of tributary of retinal vein		ICD9:362.36|DOID:13514	mondo.json	venous tributary branch occlusion of retina|venous tributary occlusion of retina|venous tributary (branch) occlusion of retina	http://purl.obolibrary.org/obo/MONDO_0001733	DOID:13514	
MONDO:0001732	biolink:Disease	trigonitis	Inflammation of the trigone of the urinary bladder.	ICD10CM:N30.3|NCIT:C123175|UMLS:C1261278|DOID:13507|ICD9:595.3|SCTID:74445007	mondo.json	trigone of urinary bladder inflammation|inflammation of trigone of urinary bladder	http://purl.obolibrary.org/obo/MONDO_0001732	UMLS:C1261278|NCIT:C123175|http://purl.bioontology.org/ontology/ICD10CM/N30.3|DOID:13507|http://identifiers.org/snomedct/74445007	
UBERON:0009580	biolink:AnatomicalEntity	diencephalon mantle layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009580		
MONDO:0001731	biolink:Disease	benign vaginal mixed epithelial and mesenchymal neoplasm	A non-metastasizing neoplasm that arises from the vagina and is characterized by the presence of benign epithelial and benign mesenchymal elements.	DOID:135|UMLS:C1511106|NCIT:C40275	mondo.json	benign vaginal carcinosarcoma|benign vaginal mixed epithelial and mesenchymal tumor|benign vaginal mixed epithelial and mesenchymal neoplasm	http://purl.obolibrary.org/obo/MONDO_0001731	NCIT:C40275|DOID:135|UMLS:C1511106	
UBERON:0009581	biolink:AnatomicalEntity	midbrain mantle layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009581		
CL:0000613	biolink:Cell	basophil progenitor cell	A progenitor cell committed to the basophil lineage. This cell lacks hematopoietic lineage markers (lin-negative) and is CD34-positive, T1/ST2-low, CD117-negative, and FceRIa-high. This cell also expresses Gata-1, Gata-2 and C/EBPa.		mondo.json	BaP|colony forming unit basophil|CFU-Bas|basophilic stem cell	http://purl.obolibrary.org/obo/CL_0000613		
UBERON:0010570	biolink:AnatomicalEntity	manual digit 1 metacarpus cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010570		
UBERON:0010575	biolink:AnatomicalEntity	manual digit 1 phalanx pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010575		
CL:0000617	biolink:Cell	GABAergic neuron	A neuron that uses GABA as a vesicular neurotransmitter	FMA:84788|WBbt:0005190	mondo.json	GABA-ergic neuron	http://purl.obolibrary.org/obo/CL_0000617		
HGNC:10718	biolink:NamedThing	SELE			mondo.json		http://identifiers.org/hgnc/10718		
UBERON:0010574	biolink:AnatomicalEntity	manual digit 5 metacarpus cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010574		
HGNC:7897	biolink:NamedThing	NPC1			mondo.json		http://identifiers.org/hgnc/7897		
UBERON:0010569	biolink:AnatomicalEntity	manual digit 5 metacarpus pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010569		
MONDO:0013701	biolink:Disease	obsolete MRT32		OMIM:614339	mondo.json		http://purl.obolibrary.org/obo/MONDO_0013701	https://omim.org/entry/614339	
MONDO:0013702	biolink:Disease	intellectual disability, autosomal recessive 27	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene.	OMIM:614340|UMLS:C3280538	mondo.json	intellectual developmental disorder, autosomal recessive 27|mental retardation, autosomal recessive type 27|mental retardation, autosomal recessive 27|MRT27|LINS1 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 27|intellectual disability, autosomal recessive type 27|autosomal recessive non-syndromic intellectual disability caused by mutation in LINS1	http://purl.obolibrary.org/obo/MONDO_0013702	https://omim.org/entry/614340|UMLS:C3280538	
HGNC:10723	biolink:NamedThing	SEMA3A			mondo.json		http://identifiers.org/hgnc/10723		
MONDO:0013700	biolink:Disease	pancreatic triacylglycerol lipase deficiency	An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase.	SCTID:78960005|NCIT:C129030|Orphanet:309031|ICD10CM:K90.3|OMIM:614338|ICD9:277.89|UMLS:C0268240	mondo.json	lipase and colipase, deficiency of|lipase, congenital absence of pancreatic|pancreatic colipase deficiency|PNLIPD|colipase, congenital absence of pancreatic|PL deficiency|pancreatic triglyceride lipase deficiency|lipase and colipase, congenital absence of pancreatic|pancreatic lipase deficiency	http://purl.obolibrary.org/obo/MONDO_0013700	https://omim.org/entry/614338|UMLS:C0268240|NCIT:C129030|http://identifiers.org/snomedct/78960005|Orphanet:309031	ordo_disease
HGNC:10721	biolink:NamedThing	SELP			mondo.json		http://identifiers.org/hgnc/10721		
MONDO:0001727	biolink:Disease	active cochleovestibular Meniere disease		ICD9:386.01|SCTID:194348002|UMLS:C0155496|DOID:13490	mondo.json	active cochleovestibular Meniere disease|active cochleovestibular Meniere's disease|active Meniere's disease, cochleovestibular|cochleovestibular active Mnire's disease	http://purl.obolibrary.org/obo/MONDO_0001727	DOID:13490|UMLS:C0155496|http://identifiers.org/snomedct/194348002	
MONDO:0001726	biolink:Disease	obsolete childhood disintegrative disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0001726		
UBERON:0009583	biolink:AnatomicalEntity	spinal cord mantle layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009583		
MONDO:0001725	biolink:Disease	balanitis xerotica obliterans	A chronic and progressive inflammatory process that affects the glans penis and the foreskin. It presents with white atrophic patches in the glans of penis and foreskin and it is often associated with the development of a sclerotic, whitish ring in the tip of the foreskin that may lead to phimosis. It is also known as lichen sclerosus of the penis.	DOID:13477|MESH:D052798|NCIT:C3523|SCTID:198033005|ICD9:607.81|UMLS:C0152460	mondo.json	lichen Sclerosus of the penis|penile lichen Sclerosus|lichen Sclerosus of penis	http://purl.obolibrary.org/obo/MONDO_0001725	http://identifiers.org/mesh/D052798|NCIT:C3523|UMLS:C0152460|http://identifiers.org/snomedct/198033005|DOID:13477	
UBERON:0009584	biolink:AnatomicalEntity	1st arch mandibular mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009584		
MONDO:0001724	biolink:Disease	supraglottis cancer	A malignant neoplasm that affects the supraglottic area of the larynx. The vast majority of cases are squamous cell carcinomas.	SCTID:187842004|DOID:13476|ICD10CM:C32.1|NCIT:C3545|UMLS:C0153484|ICD9:161.1	mondo.json	cancer of supraglottic part of larynx|supraglottic part of larynx cancer|Ca larynx - supraglottis|malignant neoplasm of supraglottis|malignant supraglottic part of larynx neoplasm|malignant supraglottis neoplasm|malignant neoplasm of extrinsic larynx|malignant supraglottic neoplasm|malignant tumor of supraglottis|malignant supraglottic tumor|malignant neoplasm of supraglottic part of larynx|malignant tumor of the supraglottis|malignant supraglottis tumor|malignant neoplasm of the supraglottis	http://purl.obolibrary.org/obo/MONDO_0001724	UMLS:C0153484|NCIT:C3545|http://purl.bioontology.org/ontology/ICD10CM/C32.1|http://identifiers.org/snomedct/187842004|DOID:13476	
HGNC:7892	biolink:NamedThing	PNP			mondo.json		http://identifiers.org/hgnc/7892		
MONDO:0001729	biolink:Disease	active cochlear Meniere disease		ICD9:386.02|UMLS:C0155497|DOID:13492|SCTID:194349005	mondo.json	cochlear active Mnire's disease|active Meniere's disease, cochlear|active cochlear Meniere's disease|active cochlear Meniere disease	http://purl.obolibrary.org/obo/MONDO_0001729	DOID:13492|http://identifiers.org/snomedct/194349005|UMLS:C0155497	
MONDO:0001728	biolink:Disease	active vestibular Meniere disease		UMLS:C0155498|SCTID:194350005|DOID:13491|ICD9:386.03	mondo.json	active vestibular Meniere disease|active Meniere's disease, vestibular|active vestibular Meniere's disease|vestibular active Mnire's disease	http://purl.obolibrary.org/obo/MONDO_0001728	DOID:13491|UMLS:C0155498|http://identifiers.org/snomedct/194350005	
MONDO:0001701	biolink:Disease	gastrointestinal anthrax	An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has material basis in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite.	SCTID:111798006|UMLS:C0152945|ICD9:022.2|DOID:13386|MESH:C571911|ICD10CM:A22.2	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001701	DOID:13386|http://purl.bioontology.org/ontology/ICD10CM/A22.2|UMLS:C0152945|http://identifiers.org/mesh/C571911|http://identifiers.org/snomedct/111798006	
MONDO:0001700	biolink:Disease	megaloblastic anemia	Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs.	SCTID:53165003|ICD9:281.3|NCIT:C34382|UMLS:C0002888|DOID:13382|HP:0001889	mondo.json	MGA1 Norwegian type|RH-MGA1|megaloblastic anemia|megaloblastic anemia (disease)|recessive hereditary megaloblastic anemia 1|IGS|Grasbeck-Imerslund syndrome	http://purl.obolibrary.org/obo/MONDO_0001700	DOID:13382|http://identifiers.org/snomedct/53165003|UMLS:C0002888|NCIT:C34382	
UBERON:0009570	biolink:AnatomicalEntity	spinal cord sulcus limitans			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009570		
UBERON:0010561	biolink:AnatomicalEntity	pedal digit 5 metatarsal cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010561		
UBERON:0010564	biolink:AnatomicalEntity	manual digit 1 mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010564		
UBERON:0010565	biolink:AnatomicalEntity	manual digit 1 metacarpus pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010565		
UBERON:0010562	biolink:AnatomicalEntity	pedal digit 1 mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010562		
UBERON:0010557	biolink:AnatomicalEntity	pedal digit 1 metatarsal cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010557		
HGNC:5246	biolink:NamedThing	HSPB1			mondo.json		http://identifiers.org/hgnc/5246		
HGNC:5248	biolink:NamedThing	HSPB3			mondo.json		http://identifiers.org/hgnc/5248		
UBERON:0009572	biolink:AnatomicalEntity	lumen of central canal of spinal cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009572		
UBERON:0009576	biolink:AnatomicalEntity	medulla oblongata sulcus limitans			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009576		
UBERON:0009577	biolink:AnatomicalEntity	metencephalon sulcus limitans			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009577		
UBERON:0009578	biolink:AnatomicalEntity	myelencephalon sulcus limitans			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009578		
HGNC:5244	biolink:NamedThing	HSPA9			mondo.json		http://identifiers.org/hgnc/5244		
MONDO:0001712	biolink:Disease	alexia	A receptive visual aphasia characterized by the loss of a previously possessed ability to comprehend the meaning or significance of handwritten words, despite intact vision. This condition may be associated with posterior cerebral artery infarction (infarction, posterior cerebral artery) and other brain diseases.	MESH:D004411|ICD9:315.01|DOID:13417	mondo.json	Word Blindnesses, acquired|acquired Word Blindnesses|acquired global dyslexia|acquired reading disability|reading disability, acquired|spelling dyslexia, acquired|acquired reading disabilities|reading disabilities, acquired|dyslexia, acquired spelling|Blindnesses, acquired Word|acquired spelling dyslexia|aphemesthaesia|blindness, acquired Word|disability, acquired reading|acquired alexia|global dyslexia, acquired|acquired Word blindness|acquired dyslexia|alexia, acquired|Word blindness, acquired|dyslexia, acquired global|disabilities, acquired reading	http://purl.obolibrary.org/obo/MONDO_0001712	http://identifiers.org/mesh/D004411|DOID:13417	
MONDO:0001711	biolink:Disease	hepatic encephalopathy	Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded.Signs and symptomsmay be debilitating, and they can begin mildly and gradually, or occur suddenly and severely. They may includepersonality or moodchanges, intellectual impairment, abnormal movements,a depressed level of consciousness, and other symptoms.There are several theories regarding the exact cause, butdevelopment of the condition isprobablyat least partiallydue to the effect of substances that are toxic to nerve tissue (neurotoxic), which are typically present with liver damage and/or liver disease. Treatment depends upon the severity of mental status changes and upon the certainty of the diagnosis.	DOID:13413|SCTID:13920009|UMLS:C0019151|ICD9:572.2|NCIT:C79596|MESH:D006501|GARD:0010452	mondo.json	portal-systemic encephalopathy|Hepatoencephalopathy|encephalopathy, hepatic	http://purl.obolibrary.org/obo/MONDO_0001711	http://identifiers.org/mesh/D006501|http://identifiers.org/snomedct/13920009|NCIT:C79596|UMLS:C0019151|DOID:13413	gard_rare
MONDO:0001710	biolink:Disease	perforation of bile duct	A rupture in the wall of the extrahepatic or intrahepatic bile duct due to traumatic or pathologic processes.	SCTID:37439003|ICD10CM:K83.2|DOID:13409|ICD9:576.3|UMLS:C0156218	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001710	http://purl.bioontology.org/ontology/ICD10CM/K83.2|http://identifiers.org/snomedct/37439003|DOID:13409|UMLS:C0156218	
UBERON:0010551	biolink:AnatomicalEntity	pedal digit 5 metatarsal pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010551		
UBERON:0009568	biolink:AnatomicalEntity	trunk region of vertebral column			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009568		
UBERON:0010546	biolink:AnatomicalEntity	metapodial skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010546		
UBERON:0009569	biolink:AnatomicalEntity	subdivision of trunk			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009569		
UBERON:0010547	biolink:AnatomicalEntity	pedal digit 1 metatarsal pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010547		
UBERON:0010544	biolink:AnatomicalEntity	metacarpus skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010544		
UBERON:0010545	biolink:AnatomicalEntity	metatarsus skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0010545		
HGNC:10701	biolink:NamedThing	SEC23A			mondo.json		http://identifiers.org/hgnc/10701		
MONDO:0001705	biolink:Disease	pure red-cell aplasia	A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia.	GARD:0007504|DOID:1340|ICD9:284.81|SCTID:50715003|NCIT:C34974|UMLS:C0034902|MESH:D012010	mondo.json	primary red cell aplasia|PRCA|red cell hypoplasia|pure red cell aplasia	http://purl.obolibrary.org/obo/MONDO_0001705	NCIT:C34974|DOID:1340|UMLS:C0034902|http://identifiers.org/snomedct/50715003|http://identifiers.org/mesh/D012010	
MONDO:0001704	biolink:Disease	vaginal glandular neoplasm	A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of neoplastic glandular epithelial cells. Representative examples include adenoma, endometrioid adenocarcinoma, and clear cell adenocarcinoma.	NCIT:C40250|UMLS:C1519921|DOID:134	mondo.json	vaginal glandular tumor|vaginal glandular neoplasm|vagina glandular cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0001704	UMLS:C1519921|NCIT:C40250|DOID:134	
MONDO:0001703	biolink:Disease	color vision disorder	The absence of or defect in the perception of colors.	ICD9:368.59|NCIT:C3891|UMLS:C0009398|UMLS:C0242225|DOID:13399|SCTID:193683001|ICD9:368.5|UMLS:CN207064|Orphanet:98658	mondo.json	color blindness|colour blindness|color-vision disease|color vision defects|colour vision deficiency|color vision deficiency|blindness color	http://purl.obolibrary.org/obo/MONDO_0001703	UMLS:CN207064|DOID:13399|http://identifiers.org/snomedct/193683001|UMLS:C0242225|NCIT:C3891|UMLS:C0009398|Orphanet:98658	ordo_group_of_disorders|disease_grouping
MONDO:0001702	biolink:Disease	labia majora carcinoma	A carcinoma that arises from the labia majora.	UMLS:C1334356|DOID:13389|NCIT:C9363	mondo.json	carcinoma of the labia majora|carcinoma of labium majora|labia majora cancer|carcinoma of labia majora|labia majora carcinoma|labium majora carcinoma	http://purl.obolibrary.org/obo/MONDO_0001702	DOID:13389|UMLS:C1334356|NCIT:C9363	
MONDO:0001709	biolink:Disease	hypercalcemic sarcoidosis	Sarcoidosis with a complication of hypercalcemia.	DOID:13407|UMLS:C1334067|NCIT:C35807	mondo.json		http://purl.obolibrary.org/obo/MONDO_0001709	NCIT:C35807|DOID:13407|UMLS:C1334067	
UBERON:0009564	biolink:AnatomicalEntity	distal limb integumentary appendage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009564		
MONDO:0001708	biolink:Disease	pulmonary sarcoidosis	Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss.	ICD9:517.8|DOID:13406|SCTID:24369008|UMLS:C0036205|NCIT:C34997|MESH:D017565	mondo.json	lung sarcoidosis|sarcoidosis of lung	http://purl.obolibrary.org/obo/MONDO_0001708	UMLS:C0036205|NCIT:C34997|DOID:13406|http://identifiers.org/mesh/D017565|http://identifiers.org/snomedct/24369008	
UBERON:0009565	biolink:AnatomicalEntity	nail of manual digit			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009565		
MONDO:0001707	biolink:Disease	cardiac sarcoidosis	Sarcoidosis affecting the tissues of the heart.	UMLS:C0392077|DOID:13405|NCIT:C35589|SCTID:75403004	mondo.json	heart sarcoidosis|sarcoidosis of heart	http://purl.obolibrary.org/obo/MONDO_0001707	DOID:13405|UMLS:C0392077|http://identifiers.org/snomedct/75403004|NCIT:C35589	
UBERON:0009566	biolink:AnatomicalEntity	intestinal submucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009566		
MONDO:0001706	biolink:Disease	cerebral sarcoidosis	Sarcoidosis of the cerebrum.	NCIT:C35441|DOID:13403|SCTID:111936002|UMLS:C0398676	mondo.json	telencephalon sarcoidosis|cerebral sarcoidosis|sarcoidosis of telencephalon	http://purl.obolibrary.org/obo/MONDO_0001706	UMLS:C0398676|DOID:13403|http://identifiers.org/snomedct/111936002|NCIT:C35441	
UBERON:0009567	biolink:AnatomicalEntity	nail of pedal digit			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009567		
NCBITaxon:210	biolink:OrganismalEntity	Helicobacter pylori		GC_ID:11|PMID:11931154|PMID:1995031|PMID:8186097|PMID:8494747	mondo.json	Campylobacter pyloridis|Helicobacter nemestrinae|Campylobacter pylori subsp. pylori|Campylobacter pylori	http://purl.obolibrary.org/obo/NCBITaxon_210		
CHEBI:27081	biolink:ChemicalSubstance	transition element atom	An element whose atom has an incomplete d sub-shell, or which can give rise to cations with an incomplete d sub-shell.		mondo.json	metaux de transition|metal de transicion|transition metal|metal de transition|Uebergangselement|metales de transicion|transition metals|transition element|transition elements|transition element|Uebergangsmetalle	http://purl.obolibrary.org/obo/CHEBI_27081		
CHEBI:78675	biolink:ChemicalSubstance	fundamental metabolite	Any metabolite produced by all living cells.		mondo.json	fundamental metabolites|essential metabolite|essential metabolites	http://purl.obolibrary.org/obo/CHEBI_78675		
CL:0009066	biolink:Cell	stratified squamous epithelial cell of anal canal	A stratified squamous epithelial cell that is part of the anal canal.		mondo.json	anal canal stratified squamous epithelial cell	http://purl.obolibrary.org/obo/CL_0009066		location_grouping
CL:0009042	biolink:Cell	enteroendocrine cell of colon	An enteroendocrine cell that is located in the colon.		mondo.json	colon enteroendocrine cell	http://purl.obolibrary.org/obo/CL_0009042		location_grouping
NCBITaxon:235	biolink:OrganismalEntity	Brucella abortus		GC_ID:11	mondo.json	Bacterium abortus|Brucella melitensis biovar Abortus|Brucella melitensis bv. Abortus|"Bacillus of abortion" Bang 1897	http://purl.obolibrary.org/obo/NCBITaxon_235		
NCBITaxon:234	biolink:OrganismalEntity	Brucella		PMID:35335701|PMID:28066370|PMID:32373076|PMID:8573514|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_234		
CHEBI:64049	biolink:ChemicalSubstance	food acidity regulator	A food additive that is used to change or otherwise control the acidity or alkalinity of foods. They may be acids, bases, neutralising agents or buffering agents.		mondo.json	pH control agent|pH control agents|food acidity regulators|acidity regulator|acidity regulators	http://purl.obolibrary.org/obo/CHEBI_64049		
CHEBI:64047	biolink:ChemicalSubstance	food additive	Any substance which is added to food to preserve or enhance its flavour and/or appearance.		mondo.json	food additives	http://purl.obolibrary.org/obo/CHEBI_64047		
GO:0015758	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0015758		
CL:0009036	biolink:Cell	appendix macrophage	A macrophage located in the vermiform appendix.		mondo.json	macrophage of vermiform appendix|macrophage of appendix vermiformis|macrophage of appendix	http://purl.obolibrary.org/obo/CL_0009036		location_grouping
CL:0009038	biolink:Cell	colon macrophage	A macrophage that is located in the colon.		mondo.json	macrophage of colon	http://purl.obolibrary.org/obo/CL_0009038		location_grouping
CL:0009039	biolink:Cell	colon goblet cell	A goblet cell that is located in the colon.		mondo.json	goblet cell of colon	http://purl.obolibrary.org/obo/CL_0009039		location_grouping
CL:0009032	biolink:Cell	B cell of appendix	A B cell that is located in a vermiform appendix.		mondo.json	appendix B cell|B cell of appendix vermiformis|B cell of vermiform appendix	http://purl.obolibrary.org/obo/CL_0009032		location_grouping
CL:0009033	biolink:Cell	plasma cell of appendix	A plasma cell that is located in a vermiform appendix.		mondo.json	plasma cell of appendix vermiformis|plasma cell of vermiform appendix|appendix plasma cell	http://purl.obolibrary.org/obo/CL_0009033		location_grouping
CL:0009034	biolink:Cell	dendritic cell of appendix	A dendritic cell that is located in a vermiform appendix.		mondo.json	appendix dendritic cell|dendritic cell of vermiform appendix|dendritic cell of appendix vermiformis	http://purl.obolibrary.org/obo/CL_0009034		location_grouping
CL:0009035	biolink:Cell	stromal cell of lamina propria of vermiform appendix	A stromal cell found in the lamina propria of the vermiform appendix.		mondo.json	stromal cell of appendix lamina propria|stromal cell of lamina propria of appendix vermiformis	http://purl.obolibrary.org/obo/CL_0009035		location_grouping
CL:0010021	biolink:Cell	cardiac myoblast			mondo.json		http://purl.obolibrary.org/obo/CL_0010021		
CL:0010022	biolink:Cell	cardiac neuron			mondo.json		http://purl.obolibrary.org/obo/CL_0010022		
CL:0010020	biolink:Cell	cardiac glial cell			mondo.json		http://purl.obolibrary.org/obo/CL_0010020		
GO:0015760	biolink:NamedThing	glucose-6-phosphate transport	The directed movement of glucose-6-phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6.		mondo.json		http://purl.obolibrary.org/obo/GO_0015760		
CL:0009044	biolink:Cell	lymphocyte of small intestine lamina propria	A lymphocyte that resides in the lamina propria of the small intestine. Lamina propria leukocytes and intraepithelial lymphocytes are the effector compartments of the gut mucosal immune system. Lymphocytes circulate through gut associated lymphoid tissues until recruitment by intestinal antigens. They are involved in the gut immune response.		mondo.json	small intestine lamina propria leukocyte|lamina propria lymphocyte of small intestine|small intestine lamina propria lymphocyte|small intestine lamina propria leukocyte (LPL)|gastrointestinal tract small intestine (lamina propria) leukocyte|gastrointestinal tract (lamina propria) lymphocyte of small intestine	http://purl.obolibrary.org/obo/CL_0009044		location_grouping
CL:0010012	biolink:Cell	cerebral cortex neuron	A CNS neuron of the cerebral cortex.	BTO:0004102|FMA:84104	mondo.json	neuron of cerebral cortex|cortical neuron	http://purl.obolibrary.org/obo/CL_0010012		
CL:0010011	biolink:Cell	cerebral cortex GABAergic interneuron	A GABAergic interneuron whose soma is located in the cerebral cortex.		mondo.json		http://purl.obolibrary.org/obo/CL_0010011		
GO:0015739	biolink:NamedThing	sialic acid transport	The directed movement of sialic acid into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0015739		
CL:0000680	biolink:Cell	muscle precursor cell	A non-terminally differentiated cell that is capable of developing into a muscle cell.		mondo.json		http://purl.obolibrary.org/obo/CL_0000680		
CL:0000681	biolink:Cell	radial glial cell	A cell present in the developing CNS. Functions as both a precursor cell and as a scaffold to support neuronal migration.		mondo.json	forebrain radial glial cell	http://purl.obolibrary.org/obo/CL_0000681		
UBERON:0009636	biolink:AnatomicalEntity	prechordal cartilage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009636		
HGNC:7800	biolink:NamedThing	NFKBIL1			mondo.json		http://identifiers.org/hgnc/7800		
UBERON:0009638	biolink:AnatomicalEntity	orbitosphenoid ossification center			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009638		
CL:0009018	biolink:Cell	lymphocyte of large intestine lamina propria	A lymphocyte that resides in the lamina propria of the large intestine.		mondo.json	lamina propria lymphocyte of large intestine	http://purl.obolibrary.org/obo/CL_0009018		location_grouping
CHEBI:76042	biolink:ChemicalSubstance	aromatic amino-acid zwitterion	An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of any aromatic amino-acid.		mondo.json	aromatic amino-acid zwitterions|an aromatic amino-acid	http://purl.obolibrary.org/obo/CHEBI_76042		
UBERON:0009639	biolink:AnatomicalEntity	body of sphenoid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009639		
CL:0009019	biolink:Cell	nephrogenic zone cell	A kidney cortical cell that is part of the nephrogenic zone.		mondo.json	cortical nephrogenic niche cell|cortical nephrogenic zone cell	http://purl.obolibrary.org/obo/CL_0009019		added_for_HCA
CL:0010017	biolink:Cell	zygote	A zygote in a plant or an animal.		mondo.json		http://purl.obolibrary.org/obo/CL_0010017		
UBERON:0009630	biolink:AnatomicalEntity	root of thoracic nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009630		
CHEBI:39015	biolink:ChemicalSubstance	apolipoprotein	Protein component on the surface of lipoprotein.		mondo.json	apolipoproteins	http://purl.obolibrary.org/obo/CHEBI_39015		
UBERON:0009631	biolink:AnatomicalEntity	root of lumbar spinal nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009631		
UBERON:0009632	biolink:AnatomicalEntity	root of cervical nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009632		
UBERON:0009633	biolink:AnatomicalEntity	root of sacral nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009633		
CL:0009030	biolink:Cell	enteroendocrine cell of appendix	An intestinal enteroendocrine cell that is located in a vermiform appendix.		mondo.json	appendix enteroendocrine cell|enteroendocrine cell of vermiform appendix|enteroendocrine cell of appendix vermiformis	http://purl.obolibrary.org/obo/CL_0009030		location_grouping
CL:0009031	biolink:Cell	T cell of appendix	A T cell that is located in a vermiform appendix.		mondo.json	appendix T cell|T cell of appendix vermiformis|T cell of vermiform appendix	http://purl.obolibrary.org/obo/CL_0009031		location_grouping
OBO:ECTO_4000000	biolink:NamedThing	exposure to change	A exposure event involving the interaction of an exposure receptor to deviation (from_normal) of quality.		mondo.json	exposure to deviation (from_normal) in quality	http://purl.obolibrary.org/obo/ECTO_4000000		
OBO:ECTO_4000001	biolink:NamedThing	exposure to increased temperature	A exposure event involving the interaction of an exposure receptor to increased temperature.		mondo.json	increased temperature exposure	http://purl.obolibrary.org/obo/ECTO_4000001		
CL:0010003	biolink:Cell	epithelial cell of alveolus of lung	An epithelial cell that is part_of a alveolus of lung.		mondo.json	alveolus of lung epithelial cell	http://purl.obolibrary.org/obo/CL_0010003		
CL:0010004	biolink:Cell	mononuclear cell of bone marrow	A mononuclear cell that is part_of a bone marrow.		mondo.json	bone marrow mononuclear cell	http://purl.obolibrary.org/obo/CL_0010004		
CL:0010001	biolink:Cell	stromal cell of bone marrow	A stromal cell that is part_of a bone marrow.		mondo.json	bone marrow stromal cell	http://purl.obolibrary.org/obo/CL_0010001		
HGNC:7808	biolink:NamedThing	NGF			mondo.json		http://identifiers.org/hgnc/7808		
CL:0010002	biolink:Cell	epithelial cell of umbilical artery	An epithelial cell that is part_of a umbilical artery.		mondo.json	umbilical artery epithelial cell	http://purl.obolibrary.org/obo/CL_0010002		
GO:0015748	biolink:NamedThing	organophosphate ester transport	The directed movement of organophosphate esters into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organophosphate esters are small organic molecules containing phosphate ester bonds.		mondo.json		http://purl.obolibrary.org/obo/GO_0015748		
GO:0015749	biolink:NamedThing	monosaccharide transmembrane transport	The process in which a monosaccharide is transported across a lipid bilayer, from one side of a membrane to the other. Monosaccharides are the simplest carbohydrates; they are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides.		mondo.json	monosaccharide transport	http://purl.obolibrary.org/obo/GO_0015749		
UBERON:0009623	biolink:AnatomicalEntity	spinal nerve root			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009623		
UBERON:0009624	biolink:AnatomicalEntity	lumbar nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009624		
UBERON:0009625	biolink:AnatomicalEntity	sacral nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009625		
CL:0010009	biolink:Cell	camera-type eye photoreceptor cell			mondo.json	camera type eye photoreceptor cell	http://purl.obolibrary.org/obo/CL_0010009		
CL:0009029	biolink:Cell	mesothelial cell of appendix	A mesothelial cell that is located in a vermiform appendix.		mondo.json	mesothelial cell of appendix vermiformis|mesothelial cell of vermiform appendix|appendix mesothelial cell	http://purl.obolibrary.org/obo/CL_0009029		location_grouping
CL:0010007	biolink:Cell	His-Purkinje system cell			mondo.json		http://purl.obolibrary.org/obo/CL_0010007		
CL:0000696	biolink:Cell	PP cell	A cell that stores and secretes pancreatic polypeptide hormone.	FMA:62938|FMA:83409	mondo.json	type F enteroendocrine cell	http://purl.obolibrary.org/obo/CL_0000696		
NCBITaxon:263	biolink:OrganismalEntity	Francisella tularensis		GC_ID:11	mondo.json	Brucella tularensis|Pasteurella tularensis|Bacterium tularense|Francisella tularense	http://purl.obolibrary.org/obo/NCBITaxon_263		
CL:0010008	biolink:Cell	cardiac endothelial cell			mondo.json		http://purl.obolibrary.org/obo/CL_0010008		
NCBITaxon:262	biolink:OrganismalEntity	Francisella		PMID:8123561|PMID:19783615|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_262		
CL:0010005	biolink:Cell	atrioventricular bundle cell	A specialized cardiomyocyte that transmit signals from the AV node to the cardiac Purkinje fibers.		mondo.json	AV bundle cell	http://purl.obolibrary.org/obo/CL_0010005		
CL:0010006	biolink:Cell	cardiac blood vessel endothelial cell			mondo.json		http://purl.obolibrary.org/obo/CL_0010006		
CL:0009025	biolink:Cell	mesothelial cell of colon	A mesothelial cell that is part of the colon.		mondo.json	mesothelial cell of large intestine	http://purl.obolibrary.org/obo/CL_0009025		location_grouping
CHEBI:39022	biolink:ChemicalSubstance	inclusion compound	A complex in which one component (the host) forms a cavity or, in the case of a crystal, a crystal lattice containing spaces in the shape of long tunnels or channels in which molecular entities of a second chemical species (the guest) are located. There is no covalent bonding between guest and host, the attraction being generally due to van der Waals forces.		mondo.json	inclusion compounds|inclusion compound|compuesto de inclusion|inclusion complex|compose d'inclusion|compuestos de inclusion	http://purl.obolibrary.org/obo/CHEBI_39022		
CHEBI:15036	biolink:ChemicalSubstance	retinoate			mondo.json	3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoate|retinoate	http://purl.obolibrary.org/obo/CHEBI_15036		
CL:0009021	biolink:Cell	stromal cell of lamina propria of large intestine	A stromal cell found in the lamina propria of the large intestine.		mondo.json		http://purl.obolibrary.org/obo/CL_0009021		location_grouping
CL:0009022	biolink:Cell	stromal cell of lamina propria of small intestine	A stromal cell found in the lamina propria of the small intestine.		mondo.json		http://purl.obolibrary.org/obo/CL_0009022		location_grouping
UBERON:0009621	biolink:AnatomicalEntity	tail somite			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009621		
CHEBI:39024	biolink:ChemicalSubstance	clathrate compound	Inclusion compound in which the guest molecule is in a cage formed by the host molecule or by a lattice of host molecules.		mondo.json	Clathratverbindung|clatrato|compuesto de clatrato|clathrate compounds|Klathrat|Klathratverbindung|cage compound|clatratos|clathrates|clathrate|Clathrat	http://purl.obolibrary.org/obo/CHEBI_39024		
CL:0009024	biolink:Cell	mesothelial cell of small intestine	A mesothelial cell that is part of the small intestine.		mondo.json		http://purl.obolibrary.org/obo/CL_0009024		location_grouping
UBERON:0009622	biolink:AnatomicalEntity	pronephric proximal straight tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009622		
CL:0000666	biolink:Cell	fenestrated cell			mondo.json	window cell	http://purl.obolibrary.org/obo/CL_0000666		
CL:0000667	biolink:Cell	collagen secreting cell	An extracellular matrix secreting cell that secretes collagen.		mondo.json		http://purl.obolibrary.org/obo/CL_0000667		
CL:0000669	biolink:Cell	pericyte cell	An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. Pericytes are present in capillaries where proper adventitia and muscle layer are missing (thus distingushing this cell type from adventitial cells). They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells.	BTO:0002441|FMA:63174	mondo.json	pericyte of Rouget|cell of Rouget|ARC|pericyte|adventitial reticular cell|adventitial cell	http://purl.obolibrary.org/obo/CL_0000669		
OBO:pato#decreased_in_magnitude_relative_to	biolink:NamedThing	decreased_in_magnitude_relative_to	q1 decreased_in_magnitude_relative_to q2 if and only if magnitude(q1) < magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale.		mondo.json		http://purl.obolibrary.org/obo/pato#decreased_in_magnitude_relative_to		
GO:0015718	biolink:NamedThing	monocarboxylic acid transport	The directed movement of monocarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0015718		
GO:0015711	biolink:NamedThing	organic anion transport	The directed movement of organic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage.		mondo.json		http://purl.obolibrary.org/obo/GO_0015711		
HGNC:7820	biolink:NamedThing	NHS			mondo.json		http://identifiers.org/hgnc/7820		
GO:0015712	biolink:NamedThing	hexose phosphate transport	The directed movement of hexose phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0015712		
UBERON:0009614	biolink:AnatomicalEntity	hindbrain neural plate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009614		
UBERON:0009615	biolink:AnatomicalEntity	midbrain hindbrain boundary neural plate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009615		
UBERON:0009616	biolink:AnatomicalEntity	presumptive midbrain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009616		
UBERON:0009617	biolink:AnatomicalEntity	head paraxial mesoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009617		
UBERON:0009618	biolink:AnatomicalEntity	trunk paraxial mesoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009618		
UBERON:0009610	biolink:AnatomicalEntity	forebrain neural plate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009610		
UBERON:0009611	biolink:AnatomicalEntity	midbrain neural plate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009611		
CHEBI:27027	biolink:ChemicalSubstance	micronutrient	Any nutrient required in small quantities by organisms throughout their life in order to orchestrate a range of physiological functions.		mondo.json	micronutrients|trace elements	http://purl.obolibrary.org/obo/CHEBI_27027		
ENVO:00002030	biolink:NamedThing	aquatic biome	A biome which is determined by a water body and which has ecological climax communities adapted to life in or on water.		mondo.json		http://purl.obolibrary.org/obo/ENVO_00002030		
CHEBI:27024	biolink:ChemicalSubstance	toluenes	Any member of the class of benzenes that is a substituted benzene in which the substituents include one (and only one) methyl group.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_27024		
CL:0000679	biolink:Cell	glutamatergic neuron		WBbt:0006829	mondo.json		http://purl.obolibrary.org/obo/CL_0000679		
NCBITaxon:287	biolink:OrganismalEntity	Pseudomonas aeruginosa		GC_ID:11	mondo.json	Bacterium pyocyaneum|Micrococcus pyocyaneus|Bacillus aeruginosus|probable synonym or variety: "Pseudomonas polycolor" Clara 1930|Bacillus pyocyaneus|Pseudomonas polycolor|Pseudomonas pyocyanea|Bacterium aeruginosum	http://purl.obolibrary.org/obo/NCBITaxon_287		
CHEBI:27026	biolink:ChemicalSubstance	toxin	Poisonous substance produced by a biological organism such as a microbe, animal or plant.		mondo.json	toxin|toxins	http://purl.obolibrary.org/obo/CHEBI_27026		
CL:0000670	biolink:Cell	primordial germ cell	A primordial germ cell is a diploid germ cell precursors that transiently exist in the embryo before they enter into close association with the somatic cells of the gonad and become irreversibly committed as germ cells.	FMA:70567	mondo.json	gonocyte|primitive germ cell	http://purl.obolibrary.org/obo/CL_0000670		
GO:0015723	biolink:NamedThing	bilirubin transport	The directed movement of bilirubin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0015723		
UBERON:0009602	biolink:AnatomicalEntity	left lung associated mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009602		
UBERON:0009603	biolink:AnatomicalEntity	right lung associated mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0009603		
NCBITaxon:286	biolink:OrganismalEntity	Pseudomonas		PMID:15950132|PMID:10758879|PMID:9103607|PMID:18048745|GC_ID:11|PMID:23918787|PMID:7727274|PMID:10939664	mondo.json	Liquidomonas|"Chlorobacterium" Guillebeau 1890, nom. rejic. Opin. 6 (not "Chlorobacterium" Lauterborn 1916)|RNA similarity group I|Loefflerella	http://purl.obolibrary.org/obo/NCBITaxon_286		
CL:0000675	biolink:Cell	female gamete	A mature sexual reproductive cell of the female germline.		mondo.json		http://purl.obolibrary.org/obo/CL_0000675		
GO:0015721	biolink:NamedThing	bile acid and bile salt transport	The directed movement of bile acid and bile salts into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	bile salt transport|bile acid transport	http://purl.obolibrary.org/obo/GO_0015721		
CL:0009004	biolink:Cell	retinal cell	Any cell in the retina, the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates.	PMID:10702418	mondo.json		http://purl.obolibrary.org/obo/CL_0009004		
CHEBI:39000	biolink:ChemicalSubstance	sodium channel modulator			mondo.json	sodium channel modulators	http://purl.obolibrary.org/obo/CHEBI_39000		
CL:0009006	biolink:Cell	enteroendocrine cell of small intestine	An enteroendocrine cell that is located in the small intestine.		mondo.json	small intestine enteroendocrine cell	http://purl.obolibrary.org/obo/CL_0009006		location_grouping
CL:0009000	biolink:Cell	sensory neuron of spinal nerve	A sensory neuron of the spinal nerve that senses body position and sends information about how much the muscle is stretched to the spinal cord.		mondo.json	spinal sensory neuron	http://purl.obolibrary.org/obo/CL_0009000		
MONDO:0023155	biolink:Disease	fibula aplasia complex brachydactyly		GARD:0002329	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023155		gard_rare
ENVO:00002004	biolink:NamedThing	obsolete physical object of mesoscopic geological size	An object which is large enough to be visible to humans, but small enough that humans can handle the object (i.e. transport it, examine it, etc) in its entirety with little to no technological assistance.		mondo.json		http://purl.obolibrary.org/obo/ENVO_00002004		
MONDO:0023156	biolink:Disease	obsolete fibular aplasia		GARD:0008659	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023156		gard_rare
OBO:ECTO_4000030	biolink:NamedThing	exposure to decreased soil temperature	A exposure event involving the interaction of an exposure receptor to decreased amount of temperature of soil.		mondo.json	exposure to decreased amount in temperature of soil	http://purl.obolibrary.org/obo/ECTO_4000030		
MONDO:0023157	biolink:Disease	fibular hypoplasia scapulo pelvic dysplasia absent		GARD:0002333	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023157		gard_rare
MONDO:0023158	biolink:Disease	Fitz-Hugh-Curtis syndrome	Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge -are oftenpresent as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PIDprogresses toFHCS in some women. Fitz-Hugh-Curtis syndrome is treatedwith antibiotics.	GARD:0006452|MESH:C537936|SCTID:237041005	mondo.json	gonococcal perihepatitis|perihepatitis syndrome	http://purl.obolibrary.org/obo/MONDO_0023158	http://identifiers.org/mesh/C537936|http://identifiers.org/snomedct/237041005	gard_rare
ENVO:00002000	biolink:NamedThing	slope	A solid astronomical body part which is part of the planetary surface between the peak of an elevation or the bottom of a depression and  relatively flat surrounding land.		mondo.json	flank|side	http://purl.obolibrary.org/obo/ENVO_00002000		
OBO:ECTO_4000033	biolink:NamedThing	exposure to decreased water pressure	A exposure event involving the interaction of an exposure receptor to decreased amount of pressure of water.		mondo.json	exposure to decreased amount in pressure of water	http://purl.obolibrary.org/obo/ECTO_4000033		
OBO:ECTO_4000034	biolink:NamedThing	exposure to increased air temperature	A exposure event involving the interaction of an exposure receptor to increased amount of temperature of air.		mondo.json	exposure to increased amount in temperature of air	http://purl.obolibrary.org/obo/ECTO_4000034		
OBO:ECTO_4000031	biolink:NamedThing	exposure to increased water temperature	A exposure event involving the interaction of an exposure receptor to increased amount of temperature of water.		mondo.json	exposure to increased amount in temperature of water	http://purl.obolibrary.org/obo/ECTO_4000031		
OBO:ECTO_4000032	biolink:NamedThing	exposure to decreased water temperature	A exposure event involving the interaction of an exposure receptor to decreased amount of temperature of water.		mondo.json	exposure to decreased amount in temperature of water	http://purl.obolibrary.org/obo/ECTO_4000032		
MONDO:0023152	biolink:Disease	fibrocartilaginous embolism	Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery) that occurs in the spinal cord. FCE occurs when materials that are usually found within the vertebral disc of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms of FCE often develop after a minor or even unnoticed btriggering eventb such as lifting, straining, or falling. Symptoms of FCE may include neck and/or back pain, progressive muscle weakness, and paralysis.The exact underlying cause of FCE is poorly understood. Most cases occur sporadically in people with no family history of the disease. Diagnosis is based on imaging of the spinal cord and ruling out other causes of a blockage of the vascular system within the spinal cord. Treatment is generally focused on preventing possible complications and improving quality of life with medications and physical therapy.	MESH:C537927|GARD:0009718|UMLS:C2931666	mondo.json	embolism, fibrocartilaginous	http://purl.obolibrary.org/obo/MONDO_0023152	http://identifiers.org/mesh/C537927|UMLS:C2931666	gard_rare
MONDO:0023153	biolink:Disease	tuberculous ascites	A type of abdominal tuberculosis that is characterized by accumulation of fluid in the abdomen, a swollen abdomen, and slightly raised tubercles of 1–2 mm all over the peritoneum.	UMLS:C0275919|NCIT:C27076|SCTID:4501007	mondo.json	tuberculous ascites	http://purl.obolibrary.org/obo/MONDO_0023153	http://identifiers.org/snomedct/4501007|NCIT:C27076|UMLS:C0275919	
MONDO:0023154	biolink:Disease	fibromatosis multiple non ossifying		GARD:0000309|SCTID:715432009|UMLS:C0796000	mondo.json	Jaffe Campanacci syndrome|disseminated nonossifying fibromas in association with cafe-au-lait spots	http://purl.obolibrary.org/obo/MONDO_0023154	http://identifiers.org/snomedct/715432009|UMLS:C0796000	gard_rare
MONDO:0011177	biolink:Disease	ectodermal dysplasia 4, hair/nail type	Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene.	OMIM:602032|UMLS:C2931483|DOID:0111658|GARD:0004364|MESH:C566592	mondo.json	ECTD4|KRT85 pure hair and nail ectodermal dysplasia|ectodermal dysplasia, 'Pure' hair/nail type|pili torti onychodysplasia|pure hair and nail ectodermal dysplasia caused by mutation in KRT85|twisted hair with nail dysplasias|ectodermal dysplasia 4, hair/nail type	http://purl.obolibrary.org/obo/MONDO_0011177	http://identifiers.org/mesh/C566592|DOID:0111658|https://omim.org/entry/602032	gard_rare
MONDO:0011176	biolink:Disease	intestinal hypomagnesemia 1	Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.	UMLS:C1865974|GARD:0013072|Orphanet:30924|SCTID:190856003|DOID:0060883|OMIM:602014|MESH:C566593	mondo.json	hypomagnesemia caused by selective magnesium malabsorption|TRPM6 familial primary hypomagnesemia|hypomagnesemia intestinal type 1|intestinal hypomagnesemia with secondary hypocalcemia|HSH|PHSH|HOMG1|primary hypomagnesemia with secondary hypocalcemia|intestinal hypomagnesemia type 1|hypomagnesemia with secondary hypocalcemia|hypomagnesemia, intestinal, with secondary hypocalcemia|familial primary hypomagnesemia caused by mutation in TRPM6|Homg|hypomagnesemic tetany|primary hypomagnesemia caused by mutation in TRPM6|hypomagnesemia 1, intestinal|TRPM6 primary hypomagnesemia	http://purl.obolibrary.org/obo/MONDO_0011176	http://identifiers.org/snomedct/190856003|UMLS:C1865974|http://identifiers.org/mesh/C566593|https://omim.org/entry/602014|Orphanet:30924|DOID:0060883	ordo_disease
MONDO:0011179	biolink:Disease	leishmaniasis, tegumentary, susceptibility to		OMIM:602068	mondo.json	leishmaniasis, tegumentary, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0011179	https://omim.org/entry/602068	predisposition
MONDO:0011178	biolink:Disease	infantile convulsions and choreoathetosis	Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence.	Orphanet:31709|GARD:0008553|UMLS:C1865926|NCIT:C126650|MESH:C535522|SCTID:715534008|OMIM:602066	mondo.json	convulsions, infantile, with paroxysmal choreoathetosis, familial|infantile convulsions and choreoathetosis|Icca syndrome|convulsions, familial infantile, with paroxysmal choreoathetosis|infantile convulsions and paroxysmal choreoathetosis, familial|paroxysmal kinesigenic dyskinesia and infantile convulsions|PKD/IC|paroxysmal kinesigenic dyskinesia with infantile convulsions|ICCA syndrome|ICCA	http://purl.obolibrary.org/obo/MONDO_0011178	UMLS:C1865926|http://identifiers.org/snomedct/715534008|Orphanet:31709|https://omim.org/entry/602066|http://identifiers.org/mesh/C535522|NCIT:C126650	ordo_disease
BFO:0000050	biolink:NamedThing	part of	For continuants: C part_of C' if and only if: given any c that instantiates C at a time t, there is some c' such that c' instantiates C' at time t, and c *part_of* c' at t. For processes: P part_of P' if and only if: given any p that instantiates P at a time t, there is some p' such that p' instantiates P' at time t, and p *part_of* p' at t. (Here *part_of* is the instance-level part-relation.)		mondo.json		http://purl.obolibrary.org/obo/BFO_0000050		
HP:0000479	biolink:PhenotypicFeature	Abnormal retinal morphology	A structural abnormality of the retina.	UMLS:C0035309|SNOMEDCT_US:29555009|MSH:D012164|UMLS:C0035300	mondo.json	Abnormal retina|Retina issue|Retinal disease|Abnormality of the retina|Anomaly of the retina	http://purl.obolibrary.org/obo/HP_0000479		hposlim_core
HP:0000478	biolink:PhenotypicFeature	Abnormality of the eye	Any abnormality of the eye, including location, spacing, and intraocular abnormalities.	SNOMEDCT_US:371405004|UMLS:C0015393|SNOMEDCT_US:371409005|MSH:D005128|SNOMEDCT_US:19416009|MSH:D005124|UMLS:C0015397	mondo.json	Eye disease|Abnormal eye|Abnormality of the eye	http://purl.obolibrary.org/obo/HP_0000478		hposlim_core
BFO:0000055	biolink:NamedThing	realizes			mondo.json		http://purl.obolibrary.org/obo/BFO_0000055		
OBO:ECTO_4000026	biolink:NamedThing	exposure to decreased pressure	A exposure event involving the interaction of an exposure receptor to decreased pressure.		mondo.json	decreased pressure exposure	http://purl.obolibrary.org/obo/ECTO_4000026		
OBO:ECTO_4000027	biolink:NamedThing	exposure to freezing water	A exposure event involving the interaction of an exposure receptor to frozen of liquid water.		mondo.json	exposure to frozen in liquid water	http://purl.obolibrary.org/obo/ECTO_4000027		
BFO:0000057	biolink:NamedThing	has participant at some time			mondo.json		http://purl.obolibrary.org/obo/BFO_0000057		
OBO:ECTO_4000024	biolink:NamedThing	exposure to increased air pressure	A exposure event involving the interaction of an exposure receptor to increased amount of pressure of air.		mondo.json	exposure to increased amount in pressure of air	http://purl.obolibrary.org/obo/ECTO_4000024		
MONDO:0011171	biolink:Disease	odonto-tricho-ungual-digito-palmar syndrome	Odonto-tricho-ungual-digito-palmar syndrome is characterised by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait.	Orphanet:69082|SCTID:722063009|MESH:C566598|UMLS:C1865998|OMIM:601957	mondo.json	OTUDP syndrome|odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type|ODONTOTRICHOUNGUAL-digital-palmar syndrome|Otudp syndrome	http://purl.obolibrary.org/obo/MONDO_0011171	http://identifiers.org/snomedct/722063009|Orphanet:69082|http://identifiers.org/mesh/C566598|UMLS:C1865998|https://omim.org/entry/601957	ordo_malformation_syndrome
MONDO:0011170	biolink:Disease	autosomal recessive limb-girdle muscular dystrophy type 2G	Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.	Orphanet:34514|DOID:0110281|MESH:C566599|SCTID:720522001|GARD:0010471|OMIM:601954	mondo.json	autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP|autosomal recessive limb-girdle muscular dystrophy caused by mutation in Tcap|muscular dystrophy, limb-girdle, autosomal recessive 7|limb-girdle muscular dystrophy, type 2G|muscular dystrophy, limb-girdle, type 2G|LGMD2G|TCAP autosomal recessive limb-girdle muscular dystrophy|Tcap autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy due to telethonin deficiency	http://purl.obolibrary.org/obo/MONDO_0011170	http://identifiers.org/mesh/C566599|DOID:0110281|http://identifiers.org/snomedct/720522001|https://omim.org/entry/601954|Orphanet:34514	ordo_disease
MONDO:0035149	biolink:Disease	secondary erythromelalgia		Orphanet:529864|ICD10CM:I73.8	mondo.json	Secondary erythermalgia	http://purl.obolibrary.org/obo/MONDO_0035149	Orphanet:529864	ordo_disorder
OBO:ECTO_4000025	biolink:NamedThing	exposure to increased pressure	A exposure event involving the interaction of an exposure receptor to increased pressure.		mondo.json	increased pressure exposure	http://purl.obolibrary.org/obo/ECTO_4000025		
MONDO:0011173	biolink:Disease	thrombocythemia 2	Familial thrombocytosis in which the cause of the disease is a mutation in the MPL gene.	Orphanet:71493|OMIM:601977|UMLS:C3275998	mondo.json	familial thrombocytosis caused by mutation in MPL|thrombocythemia type 2|THCYT2|thrombocythemia 2, autosomal dominant, somatic mutation|MPL familial thrombocytosis|thrombocythemia 2	http://purl.obolibrary.org/obo/MONDO_0011173	UMLS:C3275998|https://omim.org/entry/601977	
BFO:0000051	biolink:NamedThing	has part	a core relation that holds between a whole and its part		mondo.json		http://purl.obolibrary.org/obo/BFO_0000051		
ENVO:00002008	biolink:NamedThing	dust	Minute solid particles with diameters less than 500 micrometers. Occurs in and may be deposited from, the atmosphere.		mondo.json		http://purl.obolibrary.org/obo/ENVO_00002008		
MONDO:0011172	biolink:Disease	otofacioosseous-gonadal syndrome		OMIM:601976|MESH:C566597|UMLS:C1865988	mondo.json	otofacioosseous-gonadal syndrome	http://purl.obolibrary.org/obo/MONDO_0011172	http://identifiers.org/mesh/C566597|UMLS:C1865988|https://omim.org/entry/601976	
BFO:0000052	biolink:NamedThing	inheres in at all times			mondo.json		http://purl.obolibrary.org/obo/BFO_0000052		
ENVO:00002007	biolink:NamedThing	sediment	Sediment is an environmental substance comprised of any particulate matter that can be transported by fluid flow and which eventually is deposited as a layer of solid particles on the bedor bottom of a body of water or other liquid.		mondo.json		http://purl.obolibrary.org/obo/ENVO_00002007		
OBO:ECTO_4000028	biolink:NamedThing	exposure to freezing air	A exposure event involving the interaction of an exposure receptor to frozen of air.		mondo.json	exposure to frozen in air	http://purl.obolibrary.org/obo/ECTO_4000028		
ENVO:00002006	biolink:NamedThing	liquid water	An environmental material primarily composed of dihydrogen oxide in its liquid form.		mondo.json	water	http://purl.obolibrary.org/obo/ENVO_00002006		
MONDO:0011175	biolink:Disease	Friedreich ataxia 2	Any Friedreich ataxia with the locus FRDA2, which has linkage to chromosome 9p23-p11	DOID:0111219|OMIM:601992|MESH:C566594|UMLS:C1865981	mondo.json	FRDA2|Friedreich ataxia 2	http://purl.obolibrary.org/obo/MONDO_0011175	http://identifiers.org/mesh/C566594|DOID:0111219|https://omim.org/entry/601992|UMLS:C1865981	
MONDO:0011174	biolink:Disease	hyperzincemia with functional zinc depletion		OMIM:601979|UMLS:C1865986|MESH:C566595	mondo.json	hyperzincemia with functional zinc depletion	http://purl.obolibrary.org/obo/MONDO_0011174	http://identifiers.org/mesh/C566595|UMLS:C1865986|https://omim.org/entry/601979	
BFO:0000054	biolink:NamedThing	realized in		BFO:0000054	mondo.json		http://purl.obolibrary.org/obo/BFO_0000054		
OBO:ECTO_4000029	biolink:NamedThing	exposure to increased soil temperature	A exposure event involving the interaction of an exposure receptor to increased amount of temperature of soil.		mondo.json	exposure to increased amount in temperature of soil	http://purl.obolibrary.org/obo/ECTO_4000029		
ENVO:00002005	biolink:NamedThing	air	The mixture of gases (roughly (by molar content/volume: 78% nitrogen, 20.95% oxygen, 0.93% argon, 0.038% carbon dioxide, trace amounts of other gases, and a variable amount (average around 1%) of water vapor) that surrounds the planet Earth.		mondo.json		http://purl.obolibrary.org/obo/ENVO_00002005		
ENVO:00002013	biolink:NamedThing	igneous rock	Rock formed from molten magma.		mondo.json		http://purl.obolibrary.org/obo/ENVO_00002013		
MONDO:0023147	biolink:Disease	fetal parainfluenza virus type 3 syndrome	A syndrome caused by HPIV-3.	GARD:0002309	mondo.json	Human respirovirus 3 infectious embryofetopathy|Human respirovirus 3 caused infectious embryofetopathy	http://purl.obolibrary.org/obo/MONDO_0023147		gard_rare
NCBITaxon:2948857	biolink:OrganismalEntity	Paslahepevirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2948857		
MONDO:0023148	biolink:Disease	fetal phenothiazine syndrome		GARD:0002311	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023148		gard_rare
MONDO:0023149	biolink:Disease	infection due to clostridium perfringens		SCTID:65154009|UMLS:C0275619|GARD:0011970	mondo.json	Infection, Clostridium perfringens|Clostridium perfringens Infections|C. perfringens infection|Infection due to Clostridium perfringens|Clostridium perfringens infection|Clostridium perfringens Infection|Infection caused by Clostridium perfringens|Infections, Clostridium perfringens	http://purl.obolibrary.org/obo/MONDO_0023149	UMLS:C0275619|http://identifiers.org/snomedct/65154009	gard_rare
ENVO:00002010	biolink:NamedThing	saline water	Water which contains a significant concentration of dissolved salts.		mondo.json	salt water	http://purl.obolibrary.org/obo/ENVO_00002010		
MONDO:0023140	biolink:Disease	fenton Wilkinson Toselano syndrome		GARD:0002287	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023140		gard_rare
MONDO:0023141	biolink:Disease	obsolete antihypertensive drugs antenatal exposure syndrome		GARD:0000733	mondo.json	antihypertensive drugs antenatal exposure|fetal antihypertensive drugs syndrome	http://purl.obolibrary.org/obo/MONDO_0023141		
MONDO:0023142	biolink:Disease	fetal brain disruption sequence		GARD:0002297	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023142		gard_rare
MONDO:0023143	biolink:Disease	fetal enterovirus syndrome		GARD:0002302	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023143		gard_rare
MONDO:0011166	biolink:Disease	lymphedema-atrial septal defects-facial changes syndrome	Lymphedema-atrial septal defects-facial changes syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.	OMIM:601927|Orphanet:86915|MESH:C535539|SCTID:721978002|MESH:C567398|GARD:0000284	mondo.json	lymphedema, atrial septal defect, and characteristic facial changes|lymphedema, CARDIAC septal defects, and characteristic facies|Irons Bhan syndrome|Irons-Bhan syndrome|autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes|Irons-Bianchi syndrome|lymphedema, atrial septal defect, and characteristic facies	http://purl.obolibrary.org/obo/MONDO_0011166	https://omim.org/entry/601927|http://identifiers.org/mesh/C567398|http://identifiers.org/snomedct/721978002|Orphanet:86915|http://identifiers.org/mesh/C535539	gard_rare|ordo_malformation_syndrome
MONDO:0011165	biolink:Disease	glomerulopathy with fibronectin deposits 2	Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene.	SCTID:722759007|GARD:0009914|OMIM:601894	mondo.json	glomerular nephritis, familial, with fibronectin deposits|FN1 fibronectin glomerulopathy|fibronectin glomerulopathy caused by mutation in FN1|GFND2|glomerular nephritis familial with fibronectin deposits|glomerulopathy with fibronectin deposits 2|fibronectin glomerulopathy|glomerulopathy with fibronectin deposits type 2	http://purl.obolibrary.org/obo/MONDO_0011165	https://omim.org/entry/601894|http://identifiers.org/snomedct/722759007	
MONDO:0011168	biolink:Disease	type 1 diabetes mellitus 10	Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the IL2RA gene.	OMIM:601942|MESH:C566602|DOID:0110749|UMLS:C1866040	mondo.json	IL2RA type 1 diabetes mellitus|diabetes mellitus, insulin-dependent, type 10|insulin-dependent diabetes mellitus 10|diabetes, mellitus, insulin-dependent, susceptibility to, 10|type 1 diabetes mellitus caused by mutation in IL2RA|IDDM10|diabetes mellitus, insulin-dependent, 10	http://purl.obolibrary.org/obo/MONDO_0011168	https://omim.org/entry/601942|http://identifiers.org/mesh/C566602|UMLS:C1866040|DOID:0110749	
MONDO:0035153	biolink:Disease	male infertility due to acephalic spermatozoa		ICD10CM:N46|Orphanet:529970	mondo.json	Acephalic spermatozoa syndrome	http://purl.obolibrary.org/obo/MONDO_0035153	Orphanet:529970	ordo_subtype_of_a_disorder
HP:0000486	biolink:PhenotypicFeature	Strabismus	A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.	SNOMEDCT_US:22066006|MSH:D013285|SNOMEDCT_US:128602000|UMLS:C0038379	mondo.json	Squint|Cross-eyed|Squint eyes	http://purl.obolibrary.org/obo/HP_0000486		hposlim_core
MONDO:0011167	biolink:Disease	type 1 diabetes mellitus 6	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 18q21.	OMIM:601941|MESH:C566603|UMLS:C1866041|DOID:0110745	mondo.json	IDDM6|diabetes mellitus, insulin-dependent, 6|insulin-dependent diabetes mellitus 6|autoimmune thyroid disease, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0011167	https://omim.org/entry/601941|http://identifiers.org/mesh/C566603|UMLS:C1866041|DOID:0110745	predisposition
MONDO:0035151	biolink:Disease	17q24.2 microdeletion syndrome	A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders.	Orphanet:529962	mondo.json	Del(17)(q24)	http://purl.obolibrary.org/obo/MONDO_0035151	Orphanet:529962	ordo_disorder
MONDO:0011169	biolink:Disease	keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.	UMLS:C1866029|OMIM:601952|MESH:C566600|Orphanet:281201|SCTID:763775000	mondo.json	keratosis linearis with ichthyosis congenita and sclerosing keratoderma|KLICK syndrome|Klick syndrome|keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome|KLICK	http://purl.obolibrary.org/obo/MONDO_0011169	https://omim.org/entry/601952|http://identifiers.org/snomedct/763775000|http://identifiers.org/mesh/C566600|UMLS:C1866029|Orphanet:281201	ordo_disease
MONDO:0011160	biolink:Disease	autosomal recessive nonsyndromic hearing loss 15	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GIPC3 gene.	DOID:0110470|MESH:C566611|OMIM:601869|UMLS:C1866094	mondo.json	autosomal recessive deafness 15|autosomal recessive nonsyndromic deafness type 15|autosomal recessive nonsyndromic deafness 15|DFNB15|autosomal recessive deafness 95|autosomal recessive deafness 72|GIPC3 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 15|DFNB95|DFNB72|deafness, autosomal recessive 95|deafness, autosomal recessive type 15|deafness, autosomal recessive 72|autosomal recessive nonsyndromic deafness caused by mutation in GIPC3	http://purl.obolibrary.org/obo/MONDO_0011160	http://identifiers.org/mesh/C566611|UMLS:C1866094|DOID:0110470|https://omim.org/entry/601869	
OBO:ECTO_4000035	biolink:NamedThing	exposure to increased water pressure	A exposure event involving the interaction of an exposure receptor to increased amount of pressure of water.		mondo.json	exposure to increased amount in pressure of water	http://purl.obolibrary.org/obo/ECTO_4000035		
OBO:ECTO_4000036	biolink:NamedThing	exposure to decreased air pressure	A exposure event involving the interaction of an exposure receptor to decreased amount of pressure of air.		mondo.json	exposure to decreased amount in pressure of air	http://purl.obolibrary.org/obo/ECTO_4000036		
BFO:0000040	biolink:NamedThing	material entity	An independent continuant that is spatially extended whose identity is independent of that of other entities and can be maintained through time.		mondo.json		http://purl.obolibrary.org/obo/BFO_0000040		
MONDO:0011162	biolink:Disease	cataract 14 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the GJA3 gene.	DOID:0110253|UMLS:C1866078|Orphanet:98993|Orphanet:98991|Orphanet:98984|OMIM:601885|MESH:C566608	mondo.json	CAE3|cataract 14, multiple types|CZP3|cataract, zonular pulverulent 3|Cae3|CTRCT14|zonular pulverulent cataract 3|GJA3 early-onset non-syndromic cataract|early-onset non-syndromic cataract caused by mutation in GJA3	http://purl.obolibrary.org/obo/MONDO_0011162	https://omim.org/entry/601885|http://identifiers.org/mesh/C566608|DOID:0110253|UMLS:C1866078	
MONDO:0035159	biolink:Disease	dermoid or epidermoid cyst of the central nervous system	A rare congenital tumor characterized by a benign cyst with epithelial and epidermoid components, originating from embryologic displacement and ectopic growth of ectodermal tissue in the central nervous system. In contrast to epidermoid cysts, dermoid cysts also contain dermis and skin appendages. Most common location is the lumbosacral region, as well as the cerebellopontine angle and parasellar area for intracranial lesions. Clinical presentation depends on the location and size of the tumor and includes pain, muscle weakness, motor and sensory disturbances, and incontinence for intraspinal lesions, and intracranial hypertension, gait disturbances, cranial nerve dysfunction, and visual deficits for intracranial tumors. The cysts may rupture and cause chemical meningitis.	ICD10CM:Q07.8|Orphanet:530033	mondo.json	Dermoid or epidermoid cyst of the CNS	http://purl.obolibrary.org/obo/MONDO_0035159	Orphanet:530033	ordo_disorder
MONDO:0011161	biolink:Disease	sperm-specific antigen 1		OMIM:601876	mondo.json	fertilization antigen 1|SSFA1|sperm-specific antigen 1|sperm-specific antigen type 1	http://purl.obolibrary.org/obo/MONDO_0011161	https://omim.org/entry/601876	
ENVO:00002017	biolink:NamedThing	metamorphic rock	A rock formed by subjecting any rock type (including previously-formed metamorphic rock) to different temperature and pressure conditions than those in which the original rock was formed. These temperatures and pressures are always higher than those at the Earth's surface and must be sufficiently high so as to change the original minerals into other mineral types or else into other forms of the same minerals (e.g. by recrystallisation).		mondo.json		http://purl.obolibrary.org/obo/ENVO_00002017		
MONDO:0011164	biolink:Disease	malignant hyperthermia, susceptibility to, 6		OMIM:601888|MESH:C535699|GARD:0003368	mondo.json	malignant hyperthermia susceptibility type 6|malignant hyperthermia, susceptibility to, 6|malignant hyperpyrexia susceptibility type 6|malignant hyperthermia, susceptibility to, type 6|Mhs6|MHS6|malignant hyperthermia susceptibility 6	http://purl.obolibrary.org/obo/MONDO_0011164	https://omim.org/entry/601888|http://identifiers.org/mesh/C535699	gard_rare|predisposition
MONDO:0011163	biolink:Disease	malignant hyperthermia, susceptibility to, 5	Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the CACNA1S gene.	OMIM:601887|MESH:C535698|GARD:0003367	mondo.json	malignant hyperthermia susceptibility 5|malignant hyperthermia susceptibility type 5|malignant hyperthermia, susceptibility to, 5|malignant hyperthermia, susceptibility to, type 5|susceptibility to malignant hyperthermia 5|Mhs5|malignant hyperpyrexia susceptibility type 5|MHS5|CACNA1S malignant hyperthermia of anesthesia|malignant hyperthermia of anesthesia caused by mutation in CACNA1S	http://purl.obolibrary.org/obo/MONDO_0011163	https://omim.org/entry/601887|http://identifiers.org/mesh/C535698	gard_rare|predisposition
HP:0000481	biolink:PhenotypicFeature	Abnormal cornea morphology	Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.	UMLS:C4020889|UMLS:C1855670	mondo.json	Corneal abnormality|Corneal abnormalities|Cornela disease|Abnormality of the cornea	http://purl.obolibrary.org/obo/HP_0000481		hposlim_core
ENVO:00002016	biolink:NamedThing	sedimentary rock	A rock formed by deposition of either clastic sediments, organic matter, or chemical precipitates (evaporites), followed by compaction of the particulate matter and cementation during diagenesis.		mondo.json		http://purl.obolibrary.org/obo/ENVO_00002016		
MONDO:0023133	biolink:Disease	Faye-Petersen-Ward-Carey syndrome		UMLS:C2931417|MESH:C537076	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023133	UMLS:C2931417|http://identifiers.org/mesh/C537076	
HP:0012440	biolink:PhenotypicFeature	Abnormal biliary tract morphology	A structural abnormality of the biliary tree.	UMLS:C4021086	mondo.json	Anomaly of the biliary tract	http://purl.obolibrary.org/obo/HP_0012440		
MONDO:0023134	biolink:Disease	febrile ulceronecrotic Mucha-Habermann disease	Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and extensive, painful loss of skin tissue as well as secondary infection of the ulcers. Diagnosis of FUMHD is confirmed by biopsy of skin lesions. FUMHD occurs more frequently in children, peaking at age 5 to 10. Males tend to be affected more often than females. While some cases of FUMHD have resolved without therapy, others have resulted in death. Early diagnosis and prompt treatment may help to reduce morbidity and death.	SCTID:402860008|MESH:C537077|UMLS:C1274297|GARD:0009516	mondo.json	variant of Mucha-Habermann disease|febrile ulceronecrotic pityriasis lichenoides acuta|febrile ulceronecrotic Mucha-Habermann disease|ulceronecrotic Mucha-Habermann disease|FUMHD|A severe variant of pityriasis lichenoides et varioliformis acuta (PLEVA)	http://purl.obolibrary.org/obo/MONDO_0023134	UMLS:C1274297|http://identifiers.org/mesh/C537077|http://identifiers.org/snomedct/402860008	gard_rare
HP:0012443	biolink:PhenotypicFeature	Abnormality of brain morphology	A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.	UMLS:C4021085	mondo.json	Abnormality of the brain|Abnormal shape of brain	http://purl.obolibrary.org/obo/HP_0012443		
HP:0012444	biolink:PhenotypicFeature	Brain atrophy	Partial or complete wasting (loss) of brain tissue that was once present.	SNOMEDCT_US:278849000|SNOMEDCT_US:52522001|UMLS:C0235946|UMLS:C0154671|SNOMEDCT_US:418143002	mondo.json	Brain degeneration|Brain wasting	http://purl.obolibrary.org/obo/HP_0012444		
MONDO:0023137	biolink:Disease	feigenbaum Bergeron syndrome		GARD:0002280	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023137		gard_rare
MONDO:0023138	biolink:Disease	Feingold trainer syndrome		UMLS:C2931126|MESH:C536179|GARD:0002282	mondo.json	unusual facies, cleft palate, short stature, and intellectual disability|unusual facies, cleft palate, short stature, and mental retardation	http://purl.obolibrary.org/obo/MONDO_0023138	UMLS:C2931126|http://identifiers.org/mesh/C536179	gard_rare
CHEBI:78608	biolink:ChemicalSubstance	alpha-amino acid zwitterion	An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of any alpha-amino acid; major species at pH 7.3.		mondo.json	an alpha-amino acid	http://purl.obolibrary.org/obo/CHEBI_78608		
HP:0012447	biolink:PhenotypicFeature	Abnormal myelination	Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.	UMLS:C1857704	mondo.json		http://purl.obolibrary.org/obo/HP_0012447		
HP:0000458	biolink:PhenotypicFeature	Anosmia	An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.	MSH:D000857|SNOMEDCT_US:44169009|UMLS:C0003126	mondo.json	Lost smell|Loss of smell	http://purl.obolibrary.org/obo/HP_0000458		hposlim_core
MONDO:0011155	biolink:Disease	vacuolar Neuromyopathy		MESH:C566617|OMIM:601846|UMLS:C1866139	mondo.json	muscular dystrophy, autosomal dominant, with rimmed vacuoles|vacuolar Neuromyopathy|muscular dystrophy with rimmed vacuoles	http://purl.obolibrary.org/obo/MONDO_0011155	https://omim.org/entry/601846|http://identifiers.org/mesh/C566617|UMLS:C1866139	
MONDO:0011154	biolink:Disease	acrofacial dysostosis, Palagonia type	Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.	OMIM:601829|Orphanet:1787|MESH:C538185|SCTID:720429007|GARD:0000499|UMLS:C1866168|DOID:0060385	mondo.json	PAFD|acrofacial dysostosis Palagonia type|Palagonia type of acrofacial dysostosis|Palagonia form of AFD|acrofacial dysostosis, Patagonia type|acrofacial dysostosis, Palagonia type|AFD- Palagonia type	http://purl.obolibrary.org/obo/MONDO_0011154	https://omim.org/entry/601829|http://identifiers.org/mesh/C538185|Orphanet:1787|UMLS:C1866168|DOID:0060385|http://identifiers.org/snomedct/720429007	ordo_malformation_syndrome
MONDO:0011157	biolink:Disease	Gomez-Lopez-Hernandez syndrome	Lopez-Hernandez syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported.	SCTID:722451006|OMIM:601853|MESH:C537285|GARD:0000229|Orphanet:1532	mondo.json	Gómez-López-Hernández syndrome|GLHS|Cerebellotrigeminal-dermal dysplasia syndrome|Cerebellotrigeminal dermal dysplasia cerebello-trigeminal-dermal dysplasia|Gomez Lopez Hernandez syndrome|Gomez-Lopez-Hernandez syndrome|GOMEZ-LOPEZ-HERNANDEZ syndrome|Cerebellotrigeminal dermal dysplasia|craniosynostosis-alopecia-brain defect syndrome|Cerebellotrigeminal-dermal dysplasia|Gomez-Lopez-Hernández syndrome	http://purl.obolibrary.org/obo/MONDO_0011157	http://identifiers.org/snomedct/722451006|https://omim.org/entry/601853|http://identifiers.org/mesh/C537285|Orphanet:1532	ordo_malformation_syndrome|gard_rare
MONDO:0011156	biolink:Disease	progressive familial intrahepatic cholestasis type 2	Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.	OMIM:601847|UMLS:CN205889|Orphanet:79304|DOID:0070222|OMIM:615878|GARD:0001288	mondo.json	ABCB11 progressive familial intrahepatic cholestasis|progressive familial intrahepatic cholestasis caused by mutation in ABCB11|severe ABCB11 deficiency|PFIC2|cholestasis, progressive familial intrahepatic, type 2|cholestasis, progressive familial intrahepatic 2|cholestasis, progressive familial intrahepatic, 2|progressive familial intrahepatic cholestasis type 2|BSEP deficiency	http://purl.obolibrary.org/obo/MONDO_0011156	UMLS:CN205889|https://omim.org/entry/601847|DOID:0070222|Orphanet:79304	ordo_clinical_subtype|gard_rare
MONDO:0011159	biolink:Disease	autosomal dominant nonsyndromic hearing loss 13	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene.	DOID:0110545|UMLS:C1866095|OMIM:601868|MESH:C566612	mondo.json	deafness, autosomal dominant type 13|DFNA13|deafness, autosomal dominant 13|COL11A2 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness 13|autosomal dominant nonsyndromic deafness type 13|autosomal dominant nonsyndromic deafness caused by mutation in COL11A2|autosomal dominant deafness 13	http://purl.obolibrary.org/obo/MONDO_0011159	DOID:0110545|https://omim.org/entry/601868|http://identifiers.org/mesh/C566612|UMLS:C1866095	
MONDO:0035162	biolink:Disease	PIK3CA-related overgrowth syndrome		Orphanet:530313	mondo.json	PROS	http://purl.obolibrary.org/obo/MONDO_0035162	Orphanet:530313	ordo_group_of_disorders
MONDO:0011158	biolink:Disease	autoimmune lymphoproliferative syndrome type 1		OMIM:601859|ICD9:279.41|SCTID:702444009	mondo.json	ALPS|autoimmune lymphoproliferative syndrome, type I, autosomal recessive|autoimmune lymphoproliferative syndrome, type I, autosomal dominant|autoimmune lymphoproliferative syndrome, type IB|autoimmune lymphoproliferative syndrome, type IA|autoimmune lymphoproliferative syndrome|autoimmune lymphoproliferative syndrome, type 1B|autoimmune lymphoproliferative syndrome, type 1A|autoimmune lymphoproliferative syndrome type 1|Canale-Smith syndrome	http://purl.obolibrary.org/obo/MONDO_0011158	https://omim.org/entry/601859|http://identifiers.org/snomedct/702444009	
MONDO:0035161	biolink:Disease	progressive dementia with neuroserpin inclusion bodies		Orphanet:530303|ICD10CM:G40.3	mondo.json	late-onset familial encephalopathy with neuroserpin inclusion bodies	http://purl.obolibrary.org/obo/MONDO_0035161	Orphanet:530303	ordo_subtype_of_a_disorder
CHEBI:52090	biolink:ChemicalSubstance	methoxide	An organic anion that is the conjugate base of methanol.		mondo.json	methoxide ion	http://purl.obolibrary.org/obo/CHEBI_52090		
MONDO:0035160	biolink:Disease	progressive myoclonic epilepsy with neuroserpin inclusion bodies		Orphanet:530298|ICD10CM:G40.3	mondo.json	early onset familial encephalopathy with neuroserpin inclusion bodies	http://purl.obolibrary.org/obo/MONDO_0035160	Orphanet:530298	ordo_subtype_of_a_disorder
OBO:ECTO_4000002	biolink:NamedThing	exposure to increased salt	A exposure event involving the interaction of an exposure receptor to increased amount of salt.		mondo.json	exposure to increased amount in salt	http://purl.obolibrary.org/obo/ECTO_4000002		
OBO:ECTO_4000003	biolink:NamedThing	exposure to decreased salt	A exposure event involving the interaction of an exposure receptor to decreased amount of salt.		mondo.json	exposure to decreased amount in salt	http://purl.obolibrary.org/obo/ECTO_4000003		
MONDO:0011151	biolink:Disease	exudative vitreoretinopathy 4		MESH:C566619|DOID:0111411|OMIM:601813|UMLS:C1866176	mondo.json	exudative vitreoretinopathy 4|exudative vitreoretinopathy type 4|EVR4	http://purl.obolibrary.org/obo/MONDO_0011151	https://omim.org/entry/601813|http://identifiers.org/mesh/C566619|DOID:0111411|UMLS:C1866176	
MONDO:0011150	biolink:Disease	acroosteolysis-keloid-like lesions-premature aging syndrome		OMIM:601812|Orphanet:363665|MESH:C536653|GARD:0004498|UMLS:C1866182|GARD:0004276	mondo.json	premature aging syndrome Penttinen type|PENTT|premature aging syndrome, Penttinen type|progeroid syndrome, Penttinen type|prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly|Penttinen-aula syndrome	http://purl.obolibrary.org/obo/MONDO_0011150	https://omim.org/entry/601812|Orphanet:363665|http://identifiers.org/mesh/C536653|UMLS:C1866182	gard_rare|ordo_disease
MONDO:0011153	biolink:Disease	hyperinsulinemic hypoglycemia, familial, 2	Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene.	OMIM:601820|DOID:0070218|GARD:0009927|UMLS:C2931833	mondo.json	hyperinsulinemic hypoglycemia due to Kir6.2 deficiency|KCNJ11 hyperinsulinemic hypoglycemia (disease)|hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11|hyperinsulinemic hypoglycemia familial 2|hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia|hyperinsulinism, congenital|hyperinsulinism, neonatal|HHF2|hyperinsulinemic hypoglycemia, familial, 2|hyperinsulinemic hypoglycemia, persistent|hyperinsulinemic hypoglycemia, familial, type 2|nesidioblastosis|hyperinsulinism, familial|persistent hyperinsulinemic hypoglycemia of infancy	http://purl.obolibrary.org/obo/MONDO_0011153	https://omim.org/entry/601820|UMLS:C2931833|DOID:0070218	gard_rare
MONDO:0011152	biolink:Disease	PHGDH deficiency	3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form	UMLS:C1866174|MESH:C566618|Orphanet:79351|DOID:0050722|OMIM:601815	mondo.json	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form|PHOSPHOGLYCERATE dehydrogenase deficiency|PHGDHD|PHGDH deficiency	http://purl.obolibrary.org/obo/MONDO_0011152	https://omim.org/entry/601815|http://identifiers.org/mesh/C566618|DOID:0050722|Orphanet:79351|UMLS:C1866174	ordo_disease
MONDO:0023122	biolink:Disease	familial prostate carcinoma	Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma.	SCTID:715412008|NCIT:C103817|GARD:0004520|UMLS:CN036094|GTR:AN0101369|GTR:AN0101368|Orphanet:1331|UMLS:C2931456|OMIM:176807	mondo.json	prostate cancer, somatic|familial prostate cancer|prostate cancer, familial|hereditary prostate cancer|hereditary prostate carcinoma|prostate cancer, hereditary|prostate cancer, susceptibility to, autosomal dominant, somatic mutation|prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation|prostate cancer, autosomal dominant, somatic mutation	http://purl.obolibrary.org/obo/MONDO_0023122	UMLS:CN036094|UMLS:C2931456|Orphanet:1331|http://identifiers.org/snomedct/715412008|https://omim.org/entry/176807|NCIT:C103817	gard_rare
GO:1990266	biolink:NamedThing	neutrophil migration	The movement of a neutrophil within or between different tissues and organs of the body.		mondo.json		http://purl.obolibrary.org/obo/GO_1990266		
CHEBI:78616	biolink:ChemicalSubstance	carbohydrates and carbohydrate derivatives	Any organooxygen compound that is a polyhydroxy-aldehyde or -ketone, or a compound derived from one. Carbohydrates contain only carbon, hydrogen and oxygen and usually have an empirical formula Cm(H2O)n; carbohydrate derivatives may contain other elements by substitution or condensation.		mondo.json	carbohydrates and derivatives|carbohydrates and their derivatives	http://purl.obolibrary.org/obo/CHEBI_78616		
MONDO:0023124	biolink:Disease	familial pulmonary arterial hypertension leucopenia and atrial septal defect		GARD:0010455	mondo.json	familial PAH, leucopenia and ASD|familial pulmonary arterial hypertension, leucopenia and ASD	http://purl.obolibrary.org/obo/MONDO_0023124		gard_rare
MONDO:0023129	biolink:Disease	Fara Chlupackova syndrome		GARD:0002273|UMLS:C2931416|MESH:C537074	mondo.json	familial oto-facio-cervical dysmorphia	http://purl.obolibrary.org/obo/MONDO_0023129	http://identifiers.org/mesh/C537074	gard_rare
MONDO:0023121	biolink:Disease	familial partial paralysis		MEDGEN:447610|GTR:AN0100894|GARD:0008607|UMLS:CN035928	mondo.json	partial paralysis, familial	http://purl.obolibrary.org/obo/MONDO_0023121	UMLS:CN035928	gard_rare
MONDO:0011144	biolink:Disease	ceroid lipofuscinosis, neuronal, 6A	A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.	MESH:C566627|DOID:0110729|Orphanet:228363|OMIM:601780|GARD:0001224	mondo.json	CLN6 disease, adult Kufs type A (subtype)|neuronal ceroid lipofuscinosis, late infantile, variant|neuronal ceroid lipofuscinosis type 6|late infantile neuronal ceroid lipofuscinosis caused by mutation in CLN6|ceroid lipofuscinosis, neuronal, 6, variable age at onset|CLN6|ceroid lipofuscinosis, neuronal, 6|CLN6 disease, late infantile (subtype)|CLN6A|neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant|neuronal ceroid lipofuscinosis 6|CLN6 disease|ceroid lipofuscinosis, neuronal, type 6|neuronal ceroid lipofuscinosis 6 variable age of onset|vLINCL|CLN6 late infantile neuronal ceroid lipofuscinosis	http://purl.obolibrary.org/obo/MONDO_0011144	DOID:0110729|https://omim.org/entry/601780|Orphanet:228363|http://identifiers.org/mesh/C566627	ordo_etiological_subtype|clingen|gard_rare
MONDO:0011143	biolink:Disease	cone-rod dystrophy 6	Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.	MESH:C538363|DOID:0111011|GARD:0010656|OMIM:601777|UMLS:C1866293	mondo.json	CORD6|cone-rod dystrophy type 6|cone-rod dystrophy 6|cone-rod dystrophy caused by mutation in GUCY2D|GUCY2D cone-rod dystrophy|RCD2|retinal cone dystrophy 2	http://purl.obolibrary.org/obo/MONDO_0011143	https://omim.org/entry/601777|http://identifiers.org/mesh/C538363|DOID:0111011|UMLS:C1866293	
MONDO:0011146	biolink:Disease	tetrasomy 12p	Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.	UMLS:C0265449|MESH:C538105|NCIT:C75458|SCTID:9527009|GARD:0008421|OMIM:601803|Orphanet:884|ICD9:758.81	mondo.json	Pallister mosaic syndrome|Hexasomy 12P, Mosaic|Killian syndrome|Pallister-Killian mosaic syndrome|tetrasomy 12P, Mosaic|Pallister-Killian syndrome, Somatic mosaicism|Isochromosome 12p syndrome|Isochromosome 12p mosaicism|Isochromosome 12P syndrome|tetrasomy type 12p|PKS|Pallister Killian syndrome|Pallister-Killian syndrome|Killian Teschler-Nicola syndrome|chromosome 12, Isochromosome 12p syndrome|Teschler-Nicola Killian syndrome	http://purl.obolibrary.org/obo/MONDO_0011146	http://identifiers.org/snomedct/9527009|https://omim.org/entry/601803|http://identifiers.org/mesh/C538105|UMLS:C0265449|NCIT:C75458|Orphanet:884	ordo_malformation_syndrome
MONDO:0011145	biolink:Disease	colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome		UMLS:C1866256|MESH:C566623|OMIM:601794|Orphanet:363741	mondo.json	coloboma-obesity-hypogenitalism-intellectual disability syndrome|coloboma-obesity-hypogenitalism-mental retardation syndrome	http://purl.obolibrary.org/obo/MONDO_0011145	UMLS:C1866256|https://omim.org/entry/601794|Orphanet:363741|http://identifiers.org/mesh/C566623	ordo_disease
MONDO:0011148	biolink:Disease	Spondylospinal thoracic dysostosis	Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized bya short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth.This condition is believed to be inherited in an autosomal recessive manner.It does notappear to be compatible with life.	OMIM:601809|GARD:0010571|UMLS:C1866184|MESH:C566622	mondo.json	spondylospinal thoracic dysostosis	http://purl.obolibrary.org/obo/MONDO_0011148	UMLS:C1866184|https://omim.org/entry/601809|http://identifiers.org/mesh/C566622	gard_rare
MONDO:0035173	biolink:Disease	9q21.13 microdeletion syndrome	A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus.	ICD10CM:F78.1|Orphanet:531151	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035173	Orphanet:531151	ordo_disorder
MONDO:0011147	biolink:Disease	chromosome 18q deletion syndrome	A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts.	ICD9:758.39|Orphanet:1600|NCIT:C84522|GARD:0013000|DOID:0060407|SCTID:270889005|OMIM:601808|GARD:0010866|Orphanet:262146|MESH:C536580|UMLS:C0432443	mondo.json	deletion 18q syndrome|18Q- syndrome|chromosome 18q deletion|monosomy type 18q|monosomy 18q|partial deletion of the long arm of chromosome type 18|18Q syndrome|deletion 18q|proximal chromosome 18q deletion syndrome|18q-syndrome|proximal 18q deletion|chromosome 18q deletion syndrome|partial monosomy of the long arm of chromosome 18|proximal 18q-|partial deletion of the long arm of chromosome 18|proximal 18q deletion syndrome|chromosome 18Q- syndrome|partial deletion of chromosome 18q|partial monosomy of chromosome 18q|monosomy 18q syndrome|18q deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0011147	UMLS:C0432443|DOID:0060407|Orphanet:262146|https://omim.org/entry/601808|NCIT:C84522|Orphanet:1600|http://identifiers.org/mesh/C536580|http://identifiers.org/snomedct/270889005	ordo_malformation_syndrome|gard_rare|disease_grouping
MONDO:0011149	biolink:Disease	premature aging syndrome, Okamoto type		GARD:0004478|UMLS:C1866183|OMIM:601811|MESH:C566621	mondo.json	premature aging Okamoto type|premature aging syndrome with osteosarcoma cataracts diabetes osteoporosis erythroid macrocytosis severe developmental delay|premature aging syndrome, Okamoto type	http://purl.obolibrary.org/obo/MONDO_0011149	UMLS:C1866183|https://omim.org/entry/601811|http://identifiers.org/mesh/C566621	
MONDO:0023119	biolink:Disease	familial myelofibrosis		UMLS:C2931351|GARD:0008516|MESH:C536848	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023119	http://identifiers.org/mesh/C536848|UMLS:C2931351	gard_rare
BFO:0000066	biolink:NamedThing	occurs in	b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t		mondo.json		http://purl.obolibrary.org/obo/BFO_0000066		
BFO:0000067	biolink:NamedThing	contains process	[copied from inverse property 'occurs in'] b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t		mondo.json		http://purl.obolibrary.org/obo/BFO_0000067		
BFO:0000062	biolink:NamedThing	preceded by	X preceded_by Y iff: end(Y) before_or_simultaneous_with start(X)		mondo.json	is preceded by|takes place after	http://purl.obolibrary.org/obo/BFO_0000062		
MONDO:0011140	biolink:Disease	obsolete benign familial neonatal-infantile seizures			mondo.json		http://purl.obolibrary.org/obo/MONDO_0011140		
BFO:0000063	biolink:NamedThing	precedes	x precedes y if and only if the time point at which x ends is before or equivalent to the time point at which y starts. Formally: x precedes y iff ω(x) <= α(y), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.		mondo.json		http://purl.obolibrary.org/obo/BFO_0000063		
MONDO:0011142	biolink:Disease	Ehlers-Danlos syndrome, musculocontractural type	Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.	GARD:0008486|SCTID:720860004|GARD:0000545|Orphanet:2953|MESH:C000600608	mondo.json	Dundar syndrome|EDS, arthrogryposic type|D4ST1-deficient Ehlers-Danlos syndrome|adducted thumb clubfoot syndrome|Ehlers-Danlos syndrome, musculocontractural type, 1|adducted thumb, clubfoot, and progressive joint and skin laxity syndrome|Ehlers-Danlos syndrome, musculocontractural type 1|EDSMC1|Ehlers-Danlos syndrome, type Vib, formerly|adducted thumbs Dundar type|EDS, Kosho type|CHST14-related Ehlers-Danlos syndrome|CHST14-related EDS|Ehlers-Danlos syndrome, type Vib|Ehlers-Danlos syndrome, Kosho type|musculocontractural Ehlers-Danlos syndrome|D4ST1-deficient EDS|EDS, musculocontractural type|adducted thumb-club foot syndrome|EDSMC|arthrogryposis, distal, with peculiar facies and hydronephrosis|EDSmc|adducted thumb-clubfoot syndrome|MCEDS|ATCS|musculocontractural EDS|autosomal recessive adducted thumb-club foot syndrome|EDS6B, formerly|adducted thumbs-arthrogryposis syndrome, Dundar type|Ehlers-Danlos syndrome, type VIB, formerly|Ehlers-Danlos syndrome, arthrogryposic type	http://purl.obolibrary.org/obo/MONDO_0011142	Orphanet:2953|http://identifiers.org/snomedct/720860004|http://identifiers.org/mesh/C000600608	ordo_disease
MONDO:0011141	biolink:Disease	megaloblastic anemia, folate-responsive		OMIM:601775|UMLS:C2749656	mondo.json	folate level in erythrocytes|MEGAF	http://purl.obolibrary.org/obo/MONDO_0011141	https://omim.org/entry/601775|UMLS:C2749656	
MONDO:0023199	biolink:Disease	frontonasal dysplasia phocomelic upper limbs		GARD:0002395	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023199		gard_rare
BFO:0000019	biolink:NamedThing	quality			mondo.json		http://purl.obolibrary.org/obo/BFO_0000019		
NCBITaxon:13203	biolink:OrganismalEntity	Phlebotomus <genus>		GC_ID:1|PMID:9835021	mondo.json	Phlebotomus	http://purl.obolibrary.org/obo/NCBITaxon_13203		
BFO:0000015	biolink:NamedThing	process	p is a process = Def. p is an occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t. (axiom label in BFO2 Reference: [083-003])		mondo.json		http://purl.obolibrary.org/obo/BFO_0000015		
BFO:0000016	biolink:NamedThing	disposition			mondo.json		http://purl.obolibrary.org/obo/BFO_0000016		
BFO:0000017	biolink:NamedThing	realizable entity	A specifically dependent continuant  that inheres in continuant  entities and are not exhibited in full at every time in which it inheres in an entity or group of entities. The exhibition or actualization of a realizable entity is a particular manifestation, functioning or process that occurs under certain circumstances.		mondo.json		http://purl.obolibrary.org/obo/BFO_0000017		
MONDO:0023191	biolink:Disease	obsolete Freire-Maia odontotrichomelic syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0023191		
MONDO:0023193	biolink:Disease	Friedman Goodman syndrome		GARD:0002387	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023193		gard_rare
MONDO:0023194	biolink:Disease	frints de Smet Fabry Fryns syndrome		GARD:0001680|MESH:C538062	mondo.json	Symbrachydactyly of the hand and foot	http://purl.obolibrary.org/obo/MONDO_0023194	http://identifiers.org/mesh/C538062	gard_rare
HGNC:20193	biolink:NamedThing	HFM1			mondo.json		http://identifiers.org/hgnc/20193		
HGNC:20194	biolink:NamedThing	POLR1C			mondo.json		http://identifiers.org/hgnc/20194		
MONDO:0023196	biolink:Disease	frontonasal malformation cloacal exstrophy		GARD:0002389	mondo.json	fronto nasal malformation cloacal exstrophy	http://purl.obolibrary.org/obo/MONDO_0023196		gard_rare
MONDO:0023197	biolink:Disease	frontonasal dysplasia Klippel feil syndrome		GARD:0002394	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023197		gard_rare
HGNC:20197	biolink:NamedThing	SLC35C1			mondo.json		http://identifiers.org/hgnc/20197		
MONDO:0035105	biolink:Disease	diaphragmatic hernia-short bowel-asplenia syndrome	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported.	Orphanet:527468	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035105	Orphanet:527468	ordo_disorder
MONDO:0023188	biolink:Disease	Freiberg disease	Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient.	MESH:C535636|SCTID:28466007|Orphanet:564003|UMLS:C0264099|GARD:0002380	mondo.json	Freiberg-Kohler syndrome|Freiberg's disease|second metatarsal osteochondrosis|Freiberg's infraction|Osteochondrosis of the metatarsal head, usually the second|Kohler's second disease	http://purl.obolibrary.org/obo/MONDO_0023188	http://identifiers.org/snomedct/28466007|UMLS:C0264099|http://identifiers.org/mesh/C535636|Orphanet:564003	gard_rare
NCBITaxon:39824	biolink:OrganismalEntity	Klebsiella granulomatis		GC_ID:11|PMID:10555350	mondo.json	Encapsulatus inguinalis|Donovania granulomatis|Calymmatobacterium granulomatis	http://purl.obolibrary.org/obo/NCBITaxon_39824		
BFO:0000004	biolink:NamedThing	independent continuant	b is an independent continuant = Def. b is a continuant which is such that there is no c and no t such that b s-depends_on c at t. (axiom label in BFO2 Reference: [017-002])		mondo.json		http://purl.obolibrary.org/obo/BFO_0000004		
BFO:0000006	biolink:NamedThing	spatial region			mondo.json		http://purl.obolibrary.org/obo/BFO_0000006		
MONDO:0023180	biolink:Disease	fragile X syndrome type 3		GARD:0002368	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023180		gard_rare
MONDO:0023182	biolink:Disease	Franceschini Vardeu Guala syndrome		UMLS:C2931463|GARD:0002371|MESH:C537272	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023182	UMLS:C2931463|http://identifiers.org/mesh/C537272	gard_rare
MONDO:0023186	biolink:Disease	Fraser Jequier Chen syndrome		GARD:0002373|UMLS:C2930912|MESH:C535481	mondo.json	chondrodysplasia, situs inversus totalis, cleft epiglottis and larynx, hexadactyly of hands and feet, pancreatic cystic dysplasia, renal dysplasia/abs	http://purl.obolibrary.org/obo/MONDO_0023186	http://identifiers.org/mesh/C535481|UMLS:C2930912	gard_rare
NCBITaxon:27841	biolink:OrganismalEntity	Echinostomata		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_27841		
BFO:0000001	biolink:NamedThing	entity			mondo.json		http://purl.obolibrary.org/obo/BFO_0000001		
BFO:0000002	biolink:NamedThing	continuant	An entity that exists in full at any time in which it exists at all, persists through time while maintaining its identity and has no temporal parts.		mondo.json		http://purl.obolibrary.org/obo/BFO_0000002		
MONDO:0035117	biolink:Disease	PUM1-associated developmental disability-ataxia-seizure syndrome		Orphanet:589515	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035117	Orphanet:589515	ordo_disease
BFO:0000003	biolink:NamedThing	occurrent	An entity that has temporal parts and that happens, unfolds or develops through time.		mondo.json		http://purl.obolibrary.org/obo/BFO_0000003		
GO:1990204	biolink:NamedThing	oxidoreductase complex	Any protein complex that possesses oxidoreductase activity.		mondo.json	redox complex|oxidation-reduction complex	http://purl.obolibrary.org/obo/GO_1990204		
MONDO:0035112	biolink:Disease	acute myeloid leukemia with BCR-ABL1		Orphanet:585867|NCIT:C129785	mondo.json	AML with BCR-ABL1|AML with t(9;22)(q34.1;q11.2)|acute myeloid leukemia with t(9;22)(q34.1;q11.2)	http://purl.obolibrary.org/obo/MONDO_0035112	NCIT:C129785|Orphanet:585867	ordo_disease
MONDO:0023178	biolink:Disease	fragile X syndrome type 1		GARD:0002366	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023178		gard_rare
MONDO:0023179	biolink:Disease	fragile X syndrome type 2		GARD:0002367	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023179		gard_rare
HGNC:19185	biolink:NamedThing	FRAS1			mondo.json		http://identifiers.org/hgnc/19185		
HGNC:19181	biolink:NamedThing	KIF14			mondo.json		http://identifiers.org/hgnc/19181		
MONDO:0023170	biolink:Disease	focal or multifocal malformations in neuronal migration		GARD:0002350	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023170		gard_rare
MONDO:0023171	biolink:Disease	foix chavany Marie syndrome	Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved.	UMLS:C2931412|Orphanet:2048|SCTID:720956003|MESH:C537069|GARD:0002351	mondo.json	facio-pharyngo-glosso-masticatory diplegia|facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation|congenital Foix-Chavany-Marie syndrome (subtype)|opercular syndrome, anterior|foix chavany Marie syndrome|anterior opercular syndrome|bilateral anterior opercular syndrome|facio-Labio-pharyngo-Glosso-laryngo-brachial paralysis|pseudobulbar paralysis, cortical type|congenital Foix-Chavany-Marie syndrome	http://purl.obolibrary.org/obo/MONDO_0023171	http://identifiers.org/mesh/C537069|UMLS:C2931412|http://identifiers.org/snomedct/720956003|Orphanet:2048	gard_rare
MONDO:0023174	biolink:Disease	obsolete follicular lymphoreticuloma		GARD:0002357	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023174		gard_rare
MONDO:0023175	biolink:Disease	Fontaine farriaux blanckaert syndrome		GARD:0002358	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023175		gard_rare
MONDO:0023176	biolink:Disease	formaldehyde poisoning		MESH:C537268|GARD:0002361	mondo.json	Formalin intoxication|formaldehyde exposure|formaldehyde toxicity|Formalin toxicity	http://purl.obolibrary.org/obo/MONDO_0023176	http://identifiers.org/mesh/C537268	gard_rare
MONDO:0035122	biolink:Disease	GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder		Orphanet:589547	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035122	Orphanet:589547	ordo_disease
MONDO:0011199	biolink:Disease	nephropathy, progressive tubulointerstitial, with cholestatic liver disease		OMIM:602114|MESH:C566573|UMLS:C1865831	mondo.json	nephropathy, progressive tubulointerstitial, with cholestatic liver disease	http://purl.obolibrary.org/obo/MONDO_0011199	http://identifiers.org/mesh/C566573|https://omim.org/entry/602114|UMLS:C1865831	
MONDO:0011198	biolink:Disease	spondyloepimetaphyseal dysplasia, Missouri type	A spondyloepimetaphyseal dysplasia characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.	Orphanet:93356|DOID:0080030|GARD:0010618|OMIM:602111|SCTID:719171005	mondo.json	metaphyseal anadysplasia 1|spondyloepimetaphyseal dysplasia type 2|spondyloepimetaphyseal dysplasia Missouri type|SEMD type 2|spondyloepimetaphyseal dysplasia, Missouri type|Missouri type of spondyloepimetaphyseal dysplasia|SEMD, Missouri type|SEMD Missouri type	http://purl.obolibrary.org/obo/MONDO_0011198	DOID:0080030|http://identifiers.org/snomedct/719171005|https://omim.org/entry/602111|Orphanet:93356	ordo_disease|gard_rare
MONDO:0035121	biolink:Disease	myeloid/lymphoid neoplasm associated with JAK2 rearrangement		Orphanet:589542|NCIT:C129853	mondo.json	myeloid/lymphoid neoplasms with PCM1-JAK2	http://purl.obolibrary.org/obo/MONDO_0035121	Orphanet:589542|NCIT:C129853	ordo_disease
HP:0000496	biolink:PhenotypicFeature	Abnormality of eye movement	An abnormality in voluntary or involuntary eye movements or their control.	UMLS:C0497202|SNOMEDCT_US:103252009	mondo.json	Eye movement issue|Abnormal eye movement|Abnormal extraocular movement|Eye movement abnormalities|Abnormal ocular movements|Abnormal movement of the globe of the eye|Abnormal extraocular movements|Ocular movement abnormalities|Oculomotor abnormalities|Abnormal eye movements|Abnormality of eye movement|Abnormal motility of the globe of the eye|Abnormal eye motility	http://purl.obolibrary.org/obo/HP_0000496		hposlim_core
HP:0000499	biolink:PhenotypicFeature	Abnormal eyelash morphology	An abnormality of the eyelashes.	UMLS:C2675111	mondo.json	Eyelash abnormality|Abnormal eyelashes|Abnormality of the eyelashes	http://purl.obolibrary.org/obo/HP_0000499		hposlim_core
MONDO:0011191	biolink:Disease	capillary infantile hemangioma		Orphanet:91415|MESH:C535860|OMIM:602089|UMLS:C1865871|Orphanet:464293	mondo.json	hemangioma, capillary infantile|hemangioma, capillary infantile, susceptibility to|hemangioma, capillary infantile, somatic|hemangioma, hereditary capillary|HCI	http://purl.obolibrary.org/obo/MONDO_0011191	Orphanet:464293|https://omim.org/entry/602089|http://identifiers.org/mesh/C535860|UMLS:C1865871	
MONDO:0011190	biolink:Disease	nephronophthisis 2	Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene.	UMLS:C1865872|MESH:C566582|Orphanet:93591|OMIM:602088|DOID:0111113	mondo.json	INVS nephronophthisis (disease)|nephronophthisis 2, infantile|nephronophthisis 2|Nph2|nephronophthisis (disease) caused by mutation in INVS|infantile nephronophthisis 2|nephronophthisis type 2|NPH2|NPHP2	http://purl.obolibrary.org/obo/MONDO_0011190	http://identifiers.org/mesh/C566582|DOID:0111113|https://omim.org/entry/602088|UMLS:C1865872|Orphanet:93591	
BFO:0000034	biolink:NamedThing	function			mondo.json		http://purl.obolibrary.org/obo/BFO_0000034		
MONDO:0011193	biolink:Disease	cone dystrophy 3	Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene.	UMLS:C1865869|OMIM:602093|DOID:0080314	mondo.json	GUCA1A cone dystrophy|cone-rod dystrophy 14|cone dystrophy-3|cone dystrophy type 3|cone dystrophy 3|COD3|cone dystrophy caused by mutation in GUCA1A|retinal cone dystrophy	http://purl.obolibrary.org/obo/MONDO_0011193	DOID:0080314|https://omim.org/entry/602093|UMLS:C1865869	
MONDO:0011192	biolink:Disease	autosomal recessive nonsyndromic hearing loss 18A	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene.	UMLS:C1865870|OMIM:602092|MESH:C566580|DOID:0110473	mondo.json	deafness, autosomal recessive 18A|deafness, autosomal recessive 18a|DFNB18A|deafness, autosomal recessive type 18A|USH1C autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 18A|deafness, autosomal recessive 18|autosomal recessive nonsyndromic deafness caused by mutation in USH1C|autosomal recessive nonsyndromic deafness 18A|autosomal recessive deafness 18A	http://purl.obolibrary.org/obo/MONDO_0011192	http://identifiers.org/mesh/C566580|https://omim.org/entry/602092|DOID:0110473|UMLS:C1865870	clingen
HP:0000491	biolink:PhenotypicFeature	Keratitis	Inflammation of the cornea.	MSH:D007634|SNOMEDCT_US:5888003|UMLS:C0022568	mondo.json	Corneal inflammation	http://purl.obolibrary.org/obo/HP_0000491		hposlim_core
MONDO:0011195	biolink:Disease	Usher syndrome type 1E	A form of Usher syndrome type I that features a novel locus for USH1, USH1E, mapping to chromosome band 21q21. It is inherited in an autosomal recessive manner.	UMLS:C1865865|GARD:0005439|DOID:0110833|ICD10CM:H35.5|OMIM:602097	mondo.json	Usher syndrome, type 1E|USHER syndrome, type IE|USH1E|Usher syndrome type IE	http://purl.obolibrary.org/obo/MONDO_0011195	https://omim.org/entry/602097|DOID:0110833|UMLS:C1865865	gard_rare
MONDO:0011194	biolink:Disease	Alzheimer disease 5		MESH:C566578|DOID:0110037|UMLS:C1865868|OMIM:602096	mondo.json	Alzheimer disease, familial 5|Ad5|Alzheimer disease type 5|Alzheimer disease 5|Alzheimer's disease type 5|AD5|Alzheimer disease-5|Alzheimer's disease 5|Alzheimer disease, familial, 5	http://purl.obolibrary.org/obo/MONDO_0011194	http://identifiers.org/mesh/C566578|DOID:0110037|https://omim.org/entry/602096|UMLS:C1865868	
BFO:0000030	biolink:NamedThing	object			mondo.json		http://purl.obolibrary.org/obo/BFO_0000030		
BFO:0000031	biolink:NamedThing	generically dependent continuant	b is a generically dependent continuant = Def. b is a continuant that g-depends_on one or more other entities. (axiom label in BFO2 Reference: [074-001])		mondo.json		http://purl.obolibrary.org/obo/BFO_0000031		
MONDO:0011197	biolink:Disease	hereditary thermosensitive neuropathy	Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy.	OMIM:602107|MESH:C566575|UMLS:C1865856|Orphanet:84093|SCTID:715645004	mondo.json	neuropathy, hereditary thermosensitive	http://purl.obolibrary.org/obo/MONDO_0011197	http://identifiers.org/mesh/C566575|Orphanet:84093|https://omim.org/entry/602107|http://identifiers.org/snomedct/715645004|UMLS:C1865856	ordo_disease
MONDO:0035124	biolink:Disease	linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies		Orphanet:589608	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035124	Orphanet:589608	ordo_disease
HGNC:19189	biolink:NamedThing	DOCK6			mondo.json		http://identifiers.org/hgnc/19189		
MONDO:0011196	biolink:Disease	amyotrophic lateral sclerosis type 5	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SPG11 gene.	UMLS:C1865864|MESH:C566576|DOID:0060197|OMIM:602099|GARD:0010503	mondo.json	amyotrophic lateral sclerosis caused by mutation in SPG11|amyotrophic lateral sclerosis 5|amyotrophic lateral sclerosis 5, juvenile|ALS5|SPG11 amyotrophic lateral sclerosis	http://purl.obolibrary.org/obo/MONDO_0011196	http://identifiers.org/mesh/C566576|https://omim.org/entry/602099|DOID:0060197|UMLS:C1865864	gard_rare
HP:0000492	biolink:PhenotypicFeature	Abnormal eyelid morphology	An abnormality of the eyelids.	UMLS:C4021803	mondo.json	Abnormality of the eyelid|Abnormality of the eyelids	http://purl.obolibrary.org/obo/HP_0000492		hposlim_core
CL:0009095	biolink:Cell	endothelial cell of uterus	An endothelial cell that is part of a uterus.	EFO:0010711	mondo.json	uterine endothelial cell	http://purl.obolibrary.org/obo/CL_0009095		location_grouping
MONDO:0023167	biolink:Disease	focal alopecia congenital megalencephaly		GARD:0002349	mondo.json		http://purl.obolibrary.org/obo/MONDO_0023167		gard_rare
NCBITaxon:209	biolink:OrganismalEntity	Helicobacter		PMID:29034857|PMID:11156001|GC_ID:11|PMID:17329766|PMID:1704793|PMID:15143020	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_209		
HGNC:20188	biolink:NamedThing	DNAAF2			mondo.json		http://identifiers.org/hgnc/20188		
HGNC:19194	biolink:NamedThing	HMCN1			mondo.json		http://identifiers.org/hgnc/19194		
BFO:0000027	biolink:NamedThing	object aggregate			mondo.json		http://purl.obolibrary.org/obo/BFO_0000027		
CL:0009092	biolink:Cell	endothelial cell of placenta	An endothelial cell that is part of a placenta.	EFO:0010708	mondo.json	placental endothelial cell	http://purl.obolibrary.org/obo/CL_0009092		location_grouping
UBERON:5002544	biolink:AnatomicalEntity	digit plus metapodial segment			mondo.json		http://purl.obolibrary.org/obo/UBERON_5002544		
CL:0009093	biolink:Cell	smooth muscle cell of placenta	A smooth muscle cell that is part of a placenta.	EFO:0010709	mondo.json	placental smooth muscle cell	http://purl.obolibrary.org/obo/CL_0009093		location_grouping
BFO:0000029	biolink:NamedThing	site			mondo.json		http://purl.obolibrary.org/obo/BFO_0000029		
HGNC:19190	biolink:NamedThing	DOCK7			mondo.json		http://identifiers.org/hgnc/19190		
HGNC:19191	biolink:NamedThing	DOCK8			mondo.json		http://identifiers.org/hgnc/19191		
MONDO:0023161	biolink:Disease	viral myocarditis	Myocarditis that is caused by an infection with a viral agent.	SCTID:89141000|NCIT:C128381|UMLS:C0276138	mondo.json	Viral myocarditis|Viral Myocarditis|viral myocarditis	http://purl.obolibrary.org/obo/MONDO_0023161	NCIT:C128381|UMLS:C0276138|http://identifiers.org/snomedct/89141000	
MONDO:0023164	biolink:Disease	viral pericarditis	Pericarditis that is caused by an infection with a viral agent.	SCTID:70189005|UMLS:C0276139|NCIT:C128405	mondo.json	Viral pericarditis|viral pericarditis|Viral Pericarditis	http://purl.obolibrary.org/obo/MONDO_0023164	http://identifiers.org/snomedct/70189005|NCIT:C128405|UMLS:C0276139	
MONDO:0023165	biolink:Disease	florid cystic endosalpingiosis of the uterus		MESH:C537064|UMLS:C2931410|GARD:0000130	mondo.json	intramural florid cystic endosalpingiosis of the uterus|florid cystic endosalpingiosis|intramural florid cystic endosalpingiosis in lower uterine segment of the uterus|cystic endosalpingiosis of the uterus	http://purl.obolibrary.org/obo/MONDO_0023165	http://identifiers.org/mesh/C537064|UMLS:C2931410	gard_rare
MONDO:0011188	biolink:Disease	arrhythmogenic right ventricular dysplasia 3	An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22.	DOID:0110072|OMIM:602086|UMLS:C1865882|MESH:C566584	mondo.json	ARVD3|ARVC3|arrhythmogenic right ventricular dysplasia type 3|arrhythmogenic right ventricular dysplasia, familial, 3|arrhythmogenic right ventricular cardiomyopathy 3|familial arrhythmogenic right ventricular dysplasia 3	http://purl.obolibrary.org/obo/MONDO_0011188	http://identifiers.org/mesh/C566584|DOID:0110072|https://omim.org/entry/602086|UMLS:C1865882	
MONDO:0035133	biolink:Disease	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		OMIM:617991|Orphanet:589905|UMLS:CN248510	mondo.json	developmental delay, intellectual disability, obesity, and dysmorphic features|DIDOD|Chung-Jansen syndrome	http://purl.obolibrary.org/obo/MONDO_0035133	Orphanet:589905|https://omim.org/entry/617991|UMLS:CN248510	ordo_disease
MONDO:0011187	biolink:Disease	polydactyly, postaxial, type A2		UMLS:C1865883|MESH:C566585|OMIM:602085	mondo.json	polydactyly, postaxial, type A2|PAPA2|postaxial polydactyly, type A2	http://purl.obolibrary.org/obo/MONDO_0011187	http://identifiers.org/mesh/C566585|https://omim.org/entry/602085|UMLS:C1865883	
MONDO:0011189	biolink:Disease	arrhythmogenic right ventricular dysplasia 4	An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3.	DOID:0110073|OMIM:602087|UMLS:C1865881|MESH:C566583	mondo.json	arrhythmogenic right ventricular dysplasia type 4|arrhythmogenic right ventricular dysplasia, familial, 4|arrhythmogenic right ventricular cardiomyopathy 4|fanilial arrhythmogenic right ventricular dysplasia 4|ARVD4|ARVC4	http://purl.obolibrary.org/obo/MONDO_0011189	http://identifiers.org/mesh/C566583|DOID:0110073|https://omim.org/entry/602087|UMLS:C1865881	
CHR:9606-chr16q24	biolink:NamedThing	16q24 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr16q24		
MONDO:0011180	biolink:Disease	broad terminal phalanges, familial		MESH:C566588|UMLS:C1865923|OMIM:602071	mondo.json	broad terminal phalanges, familial	http://purl.obolibrary.org/obo/MONDO_0011180	http://identifiers.org/mesh/C566588|https://omim.org/entry/602071|UMLS:C1865923	
NCBITaxon:27829	biolink:OrganismalEntity	Strongyloidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_27829		
BFO:0000023	biolink:NamedThing	role	A realizable entity  the manifestation of which brings about some result or end that is not essential to a continuant  in virtue of the kind of thing that it is but that can be served or participated in by that kind of continuant  in some kinds of natural, social or institutional contexts.		mondo.json		http://purl.obolibrary.org/obo/BFO_0000023		
MONDO:0011182	biolink:Disease	trimethylaminuria	A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals.	Orphanet:35056|HP:0003614|SCTID:237959005|UMLS:C0342739|GARD:0006447	mondo.json	fish-odor syndrome|fish odor syndrome|fish malodor syndrome|TMAU|trimethylaminuria|stale fish syndrome|trimethylaminuria (disease)|TMAuria	http://purl.obolibrary.org/obo/MONDO_0011182	http://identifiers.org/snomedct/237959005|UMLS:C0342739|Orphanet:35056	
BFO:0000024	biolink:NamedThing	fiat object			mondo.json		http://purl.obolibrary.org/obo/BFO_0000024		
MONDO:0011181	biolink:Disease	fibrosis of extraocular muscles, congenital, 2	Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene.	MESH:C566587|OMIM:602078|UMLS:C1865915	mondo.json	fibrosis of extraocular muscles, congenital, type 2|congenital fibrosis of extraocular muscles caused by mutation in PHOX2A|Feom2 locus|fibrosis of extraocular muscles, congenital, 2|fibrosis of extraocular muscles, congenital, autosomal recessive|PHOX2A congenital fibrosis of extraocular muscles|CFEOM2	http://purl.obolibrary.org/obo/MONDO_0011181	http://identifiers.org/mesh/C566587|https://omim.org/entry/602078|UMLS:C1865915	
MONDO:0011184	biolink:Disease	childhood apraxia of speech		GARD:0012889|OMIM:602081|ICD9:315.39|Orphanet:209908|SCTID:229703009	mondo.json	speech-language disorder-1|articulatory apraxia|developmental verbal dyspraxia|childhood apraxia of speech|speech-language disorder type 1|speech-language disorder 1|developmental verbal apraxia|SPCH1|das|speech and language disorder with orofacial dyspraxia|CAS|developmental apraxia of speech	http://purl.obolibrary.org/obo/MONDO_0011184	Orphanet:209908|https://omim.org/entry/602081|http://identifiers.org/snomedct/229703009	ordo_disease
MONDO:0037792	biolink:Disease	carbohydrate metabolism disease	A disease that has its basis in the disruption of carbohydrate metabolic process.	SCTID:20957000	mondo.json	carbohydrate metabolic process disease|disorder of carbohydrate metabolism|disorder of carbohydrate metabolic process	http://purl.obolibrary.org/obo/MONDO_0037792	http://identifiers.org/snomedct/20957000	
MONDO:0011183	biolink:Disease	Paget disease of bone 2, early-onset		OMIM:602080|UMLS:C4085251	mondo.json	PDB2|Paget disease of bone 2, early-onset	http://purl.obolibrary.org/obo/MONDO_0011183	UMLS:C4085251|https://omim.org/entry/602080	
CHR:9606-chr16q22	biolink:NamedThing	16q22 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr16q22		
MONDO:0035136	biolink:Disease	isolated melanotic schwannoma		Orphanet:590539	mondo.json		http://purl.obolibrary.org/obo/MONDO_0035136	Orphanet:590539	ordo_disease
MONDO:0011186	biolink:Disease	Usher syndrome type 1F	A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner.	UMLS:C1865885|DOID:0110832|GARD:0010043|ICD10CM:H35.5|OMIM:602083	mondo.json	Usher syndrome type 1F|USHER syndrome, type IF|Usher syndrome type IF|USH1F|Usher syndrome, type 1F	http://purl.obolibrary.org/obo/MONDO_0011186	https://omim.org/entry/602083|DOID:0110832|UMLS:C1865885	gard_rare
BFO:0000020	biolink:NamedThing	specifically dependent continuant	A continuant that inheres in or is borne by other entities. Every instance of A requires some specific instance of B which must always be the same.		mondo.json		http://purl.obolibrary.org/obo/BFO_0000020		
CL:0009089	biolink:Cell	lung pericyte	A pericyte cell that is part of a lung.	EFO:0010669	mondo.json	lung pericyte cell|pulmonary pericyte	http://purl.obolibrary.org/obo/CL_0009089		location_grouping
MONDO:0011185	biolink:Disease	Thiel-Behnke corneal dystrophy	Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.	GARD:0009275|MESH:C535942|UMLS:C1562894|SCTID:417065002|Orphanet:98960|DOID:0060455|ICD9:371.52|OMIM:602082	mondo.json	corneal dystrophy honeycomb shaped|corneal dystrophy of Bowman Layer, type 2|honeycomb corneal dystrophy|Thiel-Behnke corneal dystrophy|corneal dystrophy of the Bowman layer type 2|Thiel Behnke corneal dystrophy|corneal dystrophy, honeycomb-Shaped|curly fiber corneal dystrophy|CDB2|corneal dystrophy of Bowman layer type 2|corneal dystrophy Thiel Behnke type|TBCD|anterior limiting membrane dystrophy type 2|CDTB|corneal dystrophy honeycomb-shaped|corneal dystrophy, Thiel-Behnke type|Waardenburg-Jonker corneal dystrophy|anterior limiting membrane dystrophy type II|corneal dystrophy of Bowman layer type II	http://purl.obolibrary.org/obo/MONDO_0011185	UMLS:C1562894|http://identifiers.org/snomedct/417065002|Orphanet:98960|https://omim.org/entry/602082|http://identifiers.org/mesh/C535942|DOID:0060455	gard_rare|ordo_disease
HGNC:19286	biolink:NamedThing	SCYL2			mondo.json		http://identifiers.org/hgnc/19286		
HGNC:20278	biolink:NamedThing	NUBPL			mondo.json		http://identifiers.org/hgnc/20278		
GO:0044424	biolink:NamedThing	obsolete intracellular part	OBSOLETE. Any constituent part of the living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm.		mondo.json		http://purl.obolibrary.org/obo/GO_0044424		
GO:0044421	biolink:NamedThing	obsolete extracellular region part	OBSOLETE. Any constituent part of the extracellular region, the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers constituent parts of the host cell environment outside an intracellular parasite.		mondo.json	extracellular structure	http://purl.obolibrary.org/obo/GO_0044421		
GO:0044422	biolink:NamedThing	obsolete organelle part	OBSOLETE. Any constituent part of an organelle, an organized structure of distinctive morphology and function. Includes constituent parts of the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, but excludes the plasma membrane.		mondo.json		http://purl.obolibrary.org/obo/GO_0044422		
GO:0044420	biolink:NamedThing	obsolete extracellular matrix component	OBSOLETE. Any constituent part of the extracellular matrix, the structure lying external to one or more cells, which provides structural support for cells or tissues; may be completely external to the cell (as in animals) or be part of the cell (as often seen in plants).		mondo.json	extracellular matrix part	http://purl.obolibrary.org/obo/GO_0044420		
GO:0044429	biolink:NamedThing	obsolete mitochondrial part	OBSOLETE. Any constituent part of a mitochondrion, a semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.		mondo.json	mitochondrial subcomponent|mitochondrion component	http://purl.obolibrary.org/obo/GO_0044429		
GO:0044427	biolink:NamedThing	obsolete chromosomal part	OBSOLETE. Any constituent part of a chromosome, a structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.		mondo.json	chromosome component|chromosomal component|chromosome part	http://purl.obolibrary.org/obo/GO_0044427		
GO:0044428	biolink:NamedThing	obsolete nuclear part	OBSOLETE. Any constituent part of the nucleus, a membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated.		mondo.json	nuclear subcomponent|nucleus component	http://purl.obolibrary.org/obo/GO_0044428		
GO:0044425	biolink:NamedThing	obsolete membrane part	OBSOLETE. Any constituent part of a membrane, a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins.		mondo.json		http://purl.obolibrary.org/obo/GO_0044425		
GO:0032432	biolink:NamedThing	actin filament bundle	An assembly of actin filaments that are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness.		mondo.json	actin cable	http://purl.obolibrary.org/obo/GO_0032432		
CHR:9606-chr17p13.3	biolink:NamedThing	17p13.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr17p13.3		
HP:0100497	biolink:PhenotypicFeature	Vitamin B3 deficiency		SNOMEDCT_US:418279001|UMLS:C0030783|MSH:D010383|SNOMEDCT_US:418186002	mondo.json	Vitamin B3 deficiency	http://purl.obolibrary.org/obo/HP_0100497		
HP:0100496	biolink:PhenotypicFeature	Abnormality of the vitamin B3 metabolism		UMLS:C4022040	mondo.json	Abnormality of the vitamin B3 metabolism	http://purl.obolibrary.org/obo/HP_0100496		
CHR:9606-chr17p13.1	biolink:NamedThing	17p13.1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr17p13.1		
HP:0100491	biolink:PhenotypicFeature	Abnormality of lower limb joint		UMLS:C4020971	mondo.json	Abnormality of lower limb joint|Abnormality of the joints of the lower limbs	http://purl.obolibrary.org/obo/HP_0100491		
GO:0044433	biolink:NamedThing	obsolete cytoplasmic vesicle part	OBSOLETE. Any constituent part of cytoplasmic vesicle, a vesicle formed of membrane or protein, found in the cytoplasm of a cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0044433		
GO:0044431	biolink:NamedThing	obsolete Golgi apparatus part	OBSOLETE. Any constituent part of the Golgi apparatus, a compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack.		mondo.json	Golgi subcomponent|Golgi component	http://purl.obolibrary.org/obo/GO_0044431		
GO:0007492	biolink:NamedThing	endoderm development	The process whose specific outcome is the progression of the endoderm over time, from its formation to the mature structure. The endoderm is the innermost germ layer that develops into the gastrointestinal tract, the lungs and associated tissues.		mondo.json		http://purl.obolibrary.org/obo/GO_0007492		
GO:0044438	biolink:NamedThing	obsolete microbody part	OBSOLETE. Any constituent part of a microbody, a cytoplasmic organelle, spherical or oval in shape, that is bounded by a single membrane and contains oxidative enzymes, especially those utilizing hydrogen peroxide (H2O2).		mondo.json		http://purl.obolibrary.org/obo/GO_0044438		
GO:0044439	biolink:NamedThing	obsolete peroxisomal part	OBSOLETE. Any constituent part of a peroxisome, a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2).		mondo.json	peroxisome component	http://purl.obolibrary.org/obo/GO_0044439		
GO:0044437	biolink:NamedThing	obsolete vacuolar part	OBSOLETE. Any constituent part of a vacuole, a closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material.		mondo.json	vacuole component	http://purl.obolibrary.org/obo/GO_0044437		
HGNC:19263	biolink:NamedThing	LMAN2L			mondo.json		http://identifiers.org/hgnc/19263		
HGNC:19261	biolink:NamedThing	MTO1			mondo.json		http://identifiers.org/hgnc/19261		
GO:0032414	biolink:NamedThing	positive regulation of ion transmembrane transporter activity	Any process that activates or increases the activity of an ion transporter.		mondo.json	up regulation of ion transporter activity|stimulation of ion transporter activity|up-regulation of ion transporter activity|activation of ion transporter activity|upregulation of ion transporter activity|positive regulation of ion transporter activity	http://purl.obolibrary.org/obo/GO_0032414		
GO:0032413	biolink:NamedThing	negative regulation of ion transmembrane transporter activity	Any process that stops or reduces the activity of an ion transporter.		mondo.json	downregulation of ion transporter activity|down regulation of ion transporter activity|inhibition of ion transporter activity|negative regulation of ion transporter activity|down-regulation of ion transporter activity	http://purl.obolibrary.org/obo/GO_0032413		
GO:0044445	biolink:NamedThing	obsolete cytosolic part	OBSOLETE. Any constituent part of cytosol, that part of the cytoplasm that does not contain membranous or particulate subcellular components.		mondo.json	cytosol component	http://purl.obolibrary.org/obo/GO_0044445		
GO:0044446	biolink:NamedThing	obsolete intracellular organelle part	OBSOLETE. A constituent part of an intracellular organelle, an organized structure of distinctive morphology and function, occurring within the cell. Includes constituent parts of the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton but excludes the plasma membrane.		mondo.json		http://purl.obolibrary.org/obo/GO_0044446		
GO:0044444	biolink:NamedThing	obsolete cytoplasmic part	OBSOLETE. Any constituent part of the cytoplasm, all of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.		mondo.json	cytoplasm component	http://purl.obolibrary.org/obo/GO_0044444		
GO:0044441	biolink:NamedThing	obsolete ciliary part	OBSOLETE. Any constituent part of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.		mondo.json	flagellar part|microtubule-based flagellum part|flagellum part|cilium part|cilial part|flagellum component	http://purl.obolibrary.org/obo/GO_0044441		
GO:0019438	biolink:NamedThing	aromatic compound biosynthetic process	The chemical reactions and pathways resulting in the formation of aromatic compounds, any substance containing an aromatic carbon ring.		mondo.json	aromatic compound formation|aromatic compound biosynthesis|aromatic hydrocarbon biosynthesis|aromatic hydrocarbon biosynthetic process|aromatic compound anabolism|aromatic compound synthesis	http://purl.obolibrary.org/obo/GO_0019438		
GO:0044449	biolink:NamedThing	obsolete contractile fiber part	OBSOLETE. Any constituent part of a contractile fiber, a fiber composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle.		mondo.json	contractile fibre component|muscle fiber component|muscle fibre component	http://purl.obolibrary.org/obo/GO_0044449		
GO:0019439	biolink:NamedThing	aromatic compound catabolic process	The chemical reactions and pathways resulting in the breakdown of aromatic compounds, any substance containing an aromatic carbon ring.		mondo.json	aromatic compound catabolism|aromatic compound breakdown|aromatic hydrocarbon catabolism|aromatic hydrocarbon catabolic process|aromatic compound degradation	http://purl.obolibrary.org/obo/GO_0019439		
GO:0044448	biolink:NamedThing	obsolete cell cortex part	OBSOLETE. Any constituent part of the cell cortex, the region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins.		mondo.json		http://purl.obolibrary.org/obo/GO_0044448		
GO:0032412	biolink:NamedThing	regulation of ion transmembrane transporter activity	Any process that modulates the activity of an ion transporter.		mondo.json	regulation of ion transporter activity	http://purl.obolibrary.org/obo/GO_0032412		
GO:0032411	biolink:NamedThing	positive regulation of transporter activity	Any process that activates or increases the activity of a transporter.		mondo.json	upregulation of transporter activity|stimulation of transporter activity|up regulation of transporter activity|up-regulation of transporter activity|activation of transporter activity	http://purl.obolibrary.org/obo/GO_0032411		
GO:0032410	biolink:NamedThing	negative regulation of transporter activity	Any process that stops or reduces the activity of a transporter.		mondo.json	down-regulation of transporter activity|downregulation of transporter activity|down regulation of transporter activity|inhibition of transporter activity	http://purl.obolibrary.org/obo/GO_0032410		
GO:0032409	biolink:NamedThing	regulation of transporter activity	Any process that modulates the activity of a transporter.		mondo.json		http://purl.obolibrary.org/obo/GO_0032409		
GO:0044456	biolink:NamedThing	obsolete synapse part	OBSOLETE. Any constituent part of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell.		mondo.json	synaptic component	http://purl.obolibrary.org/obo/GO_0044456		
GO:0044454	biolink:NamedThing	obsolete nuclear chromosome part	OBSOLETE. Any constituent part of a nuclear chromosome, a chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact.		mondo.json		http://purl.obolibrary.org/obo/GO_0044454		
GO:0044455	biolink:NamedThing	obsolete mitochondrial membrane part	OBSOLETE. Any constituent part of a mitochondrial membrane, either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope.		mondo.json		http://purl.obolibrary.org/obo/GO_0044455		
GO:0044452	biolink:NamedThing	obsolete nucleolar part	OBSOLETE. Any constituent part of a nucleolus, a small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis.		mondo.json	nucleolus component	http://purl.obolibrary.org/obo/GO_0044452		
GO:0044458	biolink:NamedThing	motile cilium assembly	The aggregation, arrangement and bonding together of a set of components to form a motile cilium.		mondo.json	motile primary cilia assembly|motile primary cilia formation|nodal cilium formation|motile primary cilium assembly|motile primary cilium formation|nodal cilium assembly	http://purl.obolibrary.org/obo/GO_0044458		
GO:0044459	biolink:NamedThing	obsolete plasma membrane part	OBSOLETE. Any constituent part of the plasma membrane, the membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.		mondo.json		http://purl.obolibrary.org/obo/GO_0044459		
SO:0005855	biolink:SequenceFeature	gene_group	A collection of related genes.		mondo.json	gene group	http://purl.obolibrary.org/obo/SO_0005855		
NCBITaxon:2509494	biolink:OrganismalEntity	Merbecovirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2509494		
HGNC:20233	biolink:NamedThing	COQ6			mondo.json		http://identifiers.org/hgnc/20233		
HGNC:2902	biolink:NamedThing	DLG3			mondo.json		http://identifiers.org/hgnc/2902		
GO:0044463	biolink:NamedThing	obsolete cell projection part	OBSOLETE. Any constituent part of a cell projection, a prolongation or process extending from a cell, e.g. a flagellum or axon.		mondo.json		http://purl.obolibrary.org/obo/GO_0044463		
GO:0044464	biolink:NamedThing	obsolete cell part	OBSOLETE. Any constituent part of a cell, the basic structural and functional unit of all organisms.		mondo.json	protoplast|cellular subcomponent	http://purl.obolibrary.org/obo/GO_0044464		
HGNC:2909	biolink:NamedThing	DLL3			mondo.json		http://identifiers.org/hgnc/2909		
HGNC:2917	biolink:NamedThing	DLX4			mondo.json		http://identifiers.org/hgnc/2917		
HGNC:2916	biolink:NamedThing	DLX3			mondo.json		http://identifiers.org/hgnc/2916		
HGNC:20249	biolink:NamedThing	SPRED1			mondo.json		http://identifiers.org/hgnc/20249		
HGNC:2910	biolink:NamedThing	DLL4			mondo.json		http://identifiers.org/hgnc/2910		
HGNC:2918	biolink:NamedThing	DLX5			mondo.json		http://identifiers.org/hgnc/2918		
MONDO:0056797	biolink:Disease	neurodevelopmental disorder with midbrain and hindbrain malformations		OMIM:617523|DOID:0080312|UMLS:C4479613	mondo.json	neurodevelopmental disorder with midbrain and hindbrain malformations|NEDMHM	http://purl.obolibrary.org/obo/MONDO_0056797	DOID:0080312|UMLS:C4479613|https://omim.org/entry/617523	
MONDO:0056798	biolink:Disease	disorder of appendix	A disease or disorder that involves the vermiform appendix.	ICD9:543.9|ICD10CM:K35-K38|DOID:60000|SCTID:18526009|UMLS:C0267613	mondo.json	appendix disease|vermiform appendix disease or disorder|vermiform appendix disease|disorder of appendix|disease of appendix|disorder of vermiform appendix|disease of vermiform appendix|disease or disorder of vermiform appendix|appendiceal disease	http://purl.obolibrary.org/obo/MONDO_0056798	http://identifiers.org/snomedct/18526009|UMLS:C0267613|DOID:60000|http://purl.bioontology.org/ontology/ICD10CM/K35-K38	
MONDO:0056799	biolink:Disease	synovium disorder	A disease or disorder that involves the layer of synovial tissue.	ICD9:727.89|ICD9:727.9|UMLS:C0263945|SCTID:3519007	mondo.json	layer of synovial tissue disease or disorder|layer of synovial tissue disease|disorder of layer of synovial tissue|disorder of synovium|disease of layer of synovial tissue|disease or disorder of layer of synovial tissue	http://purl.obolibrary.org/obo/MONDO_0056799	UMLS:C0263945|http://identifiers.org/snomedct/3519007	
MONDO:0056795	biolink:Disease	X-linked spermatogenic failure 1		DOID:0070189|OMIM:305700	mondo.json	spermatogenic failure, X-linked, 1|SPGFX1|Del Castillo syndrome|spermatogenic failure, X-linked, type 1|Sertoli cell-only syndrome|Germinal cell aplasia	http://purl.obolibrary.org/obo/MONDO_0056795	https://omim.org/entry/305700|DOID:0070189	
MONDO:0056796	biolink:Disease	obstructive nephropathy	Renal damage and impaired renal function secondary to urinary tract obstruction.	DOID:0070314|NCIT:C120902|ICD9:593.89|UMLS:C0149939|SCTID:86249007	mondo.json	obstructive nephropathy|congenital obstructive nephropathy	http://purl.obolibrary.org/obo/MONDO_0056796	NCIT:C120902|http://identifiers.org/snomedct/86249007|DOID:0070314|UMLS:C0149939	
HGNC:2928	biolink:NamedThing	DMD			mondo.json		http://identifiers.org/hgnc/2928		
GO:0007417	biolink:NamedThing	central nervous system development	The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord.		mondo.json	CNS development	http://purl.obolibrary.org/obo/GO_0007417		
GO:0007411	biolink:NamedThing	axon guidance	The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.		mondo.json	axon growth cone guidance|axon pathfinding|axon chemotaxis	http://purl.obolibrary.org/obo/GO_0007411		
HGNC:10889	biolink:NamedThing	SIX3			mondo.json		http://identifiers.org/hgnc/10889		
HGNC:10892	biolink:NamedThing	SIX6			mondo.json		http://identifiers.org/hgnc/10892		
HGNC:10898	biolink:NamedThing	SKIV2L			mondo.json		http://identifiers.org/hgnc/10898		
HGNC:10896	biolink:NamedThing	SKI			mondo.json		http://identifiers.org/hgnc/10896		
HGNC:20207	biolink:NamedThing	B3GLCT			mondo.json		http://identifiers.org/hgnc/20207		
HGNC:10891	biolink:NamedThing	SIX5			mondo.json		http://identifiers.org/hgnc/10891		
HGNC:2939	biolink:NamedThing	DNA2			mondo.json		http://identifiers.org/hgnc/2939		
HGNC:2938	biolink:NamedThing	DMXL2			mondo.json		http://identifiers.org/hgnc/2938		
HGNC:2933	biolink:NamedThing	DMPK			mondo.json		http://identifiers.org/hgnc/2933		
HGNC:2932	biolink:NamedThing	DMP1			mondo.json		http://identifiers.org/hgnc/2932		
GO:0007423	biolink:NamedThing	sensory organ development	The process whose specific outcome is the progression of sensory organs over time, from its formation to the mature structure.		mondo.json	sense organ development	http://purl.obolibrary.org/obo/GO_0007423		
GO:0007420	biolink:NamedThing	brain development	The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.).		mondo.json		http://purl.obolibrary.org/obo/GO_0007420		
HGNC:2942	biolink:NamedThing	DNAH11			mondo.json		http://identifiers.org/hgnc/2942		
HGNC:19237	biolink:NamedThing	NANS			mondo.json		http://identifiers.org/hgnc/19237		
GO:0019400	biolink:NamedThing	alditol metabolic process	The chemical reactions and pathways involving alditols, any polyhydric alcohol derived from the acyclic form of a monosaccharide by reduction of its aldehyde or keto group to an alcoholic group.		mondo.json	alditol metabolism	http://purl.obolibrary.org/obo/GO_0019400		
MONDO:0017150	biolink:Disease	obsolete pulmonary arterial hypertension associated with another disease	OBSOLETE. Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH; connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia, which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal.	Orphanet:275791|UMLS:CN202577|EFO:0009193	mondo.json	secondary PAH|PAH associated with another disease	http://purl.obolibrary.org/obo/MONDO_0017150	Orphanet:275791|UMLS:CN202577	ordo_group_of_disorders
MONDO:0017151	biolink:Disease	obsolete pulmonary arterial hypertension associated with connective tissue disease	OBSOLETE. Pulmonary arterial hypertension (PAH) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease.	ICD9:416.8|UMLS:C3697982|Orphanet:275798|EFO:0009196|UMLS:CN202578|SCTID:697903007	mondo.json	PAH associated with connective tissue disease	http://purl.obolibrary.org/obo/MONDO_0017151	http://identifiers.org/snomedct/697903007|UMLS:C3697982|Orphanet:275798|UMLS:CN202578	ordo_group_of_disorders
MONDO:0032788	biolink:Disease	cerebellar atrophy with seizures and variable developmental delay		OMIM:618501	mondo.json	CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY|CASVDD	http://purl.obolibrary.org/obo/MONDO_0032788	https://omim.org/entry/618501	
MONDO:0032789	biolink:Disease	intellectual developmental disorder, autosomal recessive 71		OMIM:618504	mondo.json	Mental Retardation, Autosomal Recessive 71|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71|MRT71	http://purl.obolibrary.org/obo/MONDO_0032789	https://omim.org/entry/618504	
MONDO:0005167	biolink:Disease	fibroma	A non-metastasizing neoplasm arising from the fibrous tissue. It is characterized by the presence of spindle-shaped fibroblasts.	MESH:D005350|NCIT:C3041|ICD9:215.9|SCTID:424568000|DOID:0050871|ICDO:8810/0|EFO:0002424	mondo.json	fibroma|fibroma, benign	http://purl.obolibrary.org/obo/MONDO_0005167	DOID:0050871|http://identifiers.org/mesh/D005350|http://identifiers.org/snomedct/424568000|NCIT:C3041	
MONDO:0029134	biolink:Disease	severe combined immunodeficiency due to CARMIL2 deficiency		OMIM:618131|Orphanet:542301	mondo.json	immunodeficiency 58|IMD58	http://purl.obolibrary.org/obo/MONDO_0029134	Orphanet:542301|https://omim.org/entry/618131	ordo_disease
MONDO:0005166	biolink:Disease	osteoma	A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course.	EFO:0002423|MESH:D010016|HP:0100246|SCTID:302858007|UMLS:C0029440|NCIT:C3296|ICDO:9180/0	mondo.json	osteoma|osteoma (disease)|osteoma, benign	http://purl.obolibrary.org/obo/MONDO_0005166	http://identifiers.org/mesh/D010016|http://identifiers.org/snomedct/302858007|UMLS:C0029440|NCIT:C3296	
MONDO:0029133	biolink:Disease	muscular dystrophy, limb-girdle, autosomal dominant 4		OMIM:618129	mondo.json	muscular dystrophy, limb-girdle, autosomal dominant 4|muscular dystrophy, limb-girdle, type 1I|LGMDD4	http://purl.obolibrary.org/obo/MONDO_0029133	https://omim.org/entry/618129	
MONDO:0029132	biolink:Disease	Liddle syndrome 3		OMIM:618126	mondo.json	Liddle syndrome 3|LIDLS3	http://purl.obolibrary.org/obo/MONDO_0029132	https://omim.org/entry/618126	
MONDO:0005169	biolink:Disease	neoplasm of mature T-cells or NK-cells	A group of neoplasms composed of T-lymphocytes with a mature (peripheral/post-thymic) immunophenotypic profile and/or NK-cells.	ONCOTREE:MTNN|UMLS:C1334640|NCIT:C27909|EFO:0002426	mondo.json	mature T-cell neoplasm|mature T-cell and NK-cell neoplasm|mature T and NK neoplasms	http://purl.obolibrary.org/obo/MONDO_0005169	NCIT:C27909|UMLS:C1334640	
MONDO:0044777	biolink:Disease	premature ovarian failure 14		UMLS:CN757793|OMIM:618014|UMLS:CN753759|GTR:AN1172965	mondo.json	GDF9-related primary ovarian insufficiency|premature ovarian failure 14|POF14	http://purl.obolibrary.org/obo/MONDO_0044777	UMLS:CN757793|https://omim.org/entry/618014|UMLS:CN753759	
MONDO:0044776	biolink:Disease	premature ovarian failure 10	Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.nnFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM:311360).nnFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM:300488).	OMIM:612885	mondo.json	premature ovarian failure 10|menopause, natural, Age At, quantitative trait locus 3|Pof10	http://purl.obolibrary.org/obo/MONDO_0044776	https://omim.org/entry/612885	
MONDO:0029131	biolink:Disease	peripheral neuropathy, autosomal recessive, with or without impaired intellectual development		OMIM:618124	mondo.json	peripheral neuropathy, autosomal recessive, with or without impaired intellectual development|PNRIID	http://purl.obolibrary.org/obo/MONDO_0029131	https://omim.org/entry/618124	
MONDO:0005168	biolink:Disease	neoplasm of immature B and T cells	A neoplasm arising from immature B and T cells	EFO:0002425	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005168		
MONDO:0005163	biolink:Disease	simian immunodeficiency virus infection	An infection affecting monkeys, chimpanzees, and other non human primates caused by a HIV-like virus.	EFO:0001675	mondo.json	Simian immunodeficiency virus caused disease or disorder|Simian immunodeficiency virus disease or disorder|Simian immunodeficiency virus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005163		
MONDO:0029138	biolink:Disease	developmental and epileptic encephalopathy, 67		OMIM:618141	mondo.json	developmental and epileptic encephalopathy 67|epileptic encephalopathy, early infantile, 67|EIEE67|DEE67	http://purl.obolibrary.org/obo/MONDO_0029138	https://omim.org/entry/618141	
CHEBI:67012	biolink:ChemicalSubstance	L-dopa(1-)	A L-alpha-amino acid anion which is the conjugate base of L-dopa, obtained by deprotonation of the carboxy group: major species at pH 7.3.		mondo.json	(2S)-2-amino-3-(3,4-dihydroxyphenyl)propanoate|L-dopa carboxylate	http://purl.obolibrary.org/obo/CHEBI_67012		
MONDO:0029137	biolink:Disease	hearing loss, autosomal dominant 74		OMIM:618140	mondo.json	deafness, autosomal dominant 74|DFNA74	http://purl.obolibrary.org/obo/MONDO_0029137	https://omim.org/entry/618140	
MONDO:0005162	biolink:Disease	obsolete influenza infection			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005162		
MONDO:0005165	biolink:Disease	benign neoplasm	A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites.	EFO:0002422|ICD10CM:D10-D36|DOID:0060072|NCIT:C3677|DOID:0060085|DOID:0060084|ICD9:210-229.99|SCTID:20376005|ICD9:229.9|ICDO:8000/0|ICD9:229.8|ICD10WHO:D10-D36	mondo.json	organ system benign neoplasm|cell type benign neoplasm|neoplasm (disease), benign|benign neoplasm (disease)|benign neoplasm|benign tumor|benign unclassifiable tumor|neoplasm, benign	http://purl.obolibrary.org/obo/MONDO_0005165	https://icd.who.int/browse10/2019/en#/D10-D36|http://identifiers.org/snomedct/20376005|DOID:0060084|DOID:0060085|DOID:0060072|http://purl.bioontology.org/ontology/ICD10CM/D10-D36|NCIT:C3677	
MONDO:0029136	biolink:Disease	muscular dystrophy, limb-girdle, autosomal recessive 23		OMIM:618138|Orphanet:565837	mondo.json	muscular dystrophy, limb-girdle, autosomal recessive 23|laminin subunit alpha 2-related limb-girdle muscular dystrophy R23|LGMDR23	http://purl.obolibrary.org/obo/MONDO_0029136	Orphanet:565837|https://omim.org/entry/618138	ordo_disease
MONDO:0029135	biolink:Disease	muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8		OMIM:618135	mondo.json	MDDGC8|LGMD-POMGNT2 related myopathy|muscular dystrophy, limb-girdle, autosomal recessive 24|Muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related|muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8|muscular dystrophy-dystroglycanopathy (limb-girdle), TYPE C, 8	http://purl.obolibrary.org/obo/MONDO_0029135	https://omim.org/entry/618135	
MONDO:0005164	biolink:Disease	fibrosarcoma	A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone.	ONCOTREE:FIBS|DOID:3355|MedDRA:10016632|UMLS:C0016057|EFO:0002087|HP:0100244|SCTID:443250000|Orphanet:2030|ICDO:8810/3|NCIT:C3043|GARD:0002327|MESH:D005354|ICD9:171.9	mondo.json	fibrosarcoma, malignant|fibrosarcoma (disease)|fibrocytic tumor|malignant fibromatous neoplasm|fibrous tissue neoplasm|fibrosarcoma of soft tissue|fibrosarcoma|fibrosarcoma (excluding infantile fibrosarcoma)|fibrosarcoma - not infantile	http://purl.obolibrary.org/obo/MONDO_0005164	DOID:3355|http://identifiers.org/mesh/D005354|UMLS:C0016057|http://identifiers.org/snomedct/443250000|NCIT:C3043|Orphanet:2030	ordo_disease|gard_rare
HGNC:10872	biolink:NamedThing	ST3GAL5			mondo.json		http://identifiers.org/hgnc/10872		
MONDO:0032790	biolink:Disease	neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities		OMIM:618505	mondo.json	NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES|NEDCFSA	http://purl.obolibrary.org/obo/MONDO_0032790	https://omim.org/entry/618505	
MONDO:0005161	biolink:Disease	human papilloma virus infection	An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth.	UMLS:C0343641|SCTID:240532009|NCIT:C27851|EFO:0001668|ICD9:079.4	mondo.json	Human papillomavirus infectious disease|Human papillomavirus caused disease or disorder|Human Papillomavirus infection|Human papilloma Virus infection|Human papillomavirus disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005161	UMLS:C0343641|NCIT:C27851|http://identifiers.org/snomedct/240532009	
MONDO:0005160	biolink:Disease	aortic aneurysm	A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.	DOID:3627|UMLS:C0265012|UMLS:C0003486|UMLS:C0265010|HP:0004942|ICD9:441.5|UMLS:C1305122|MESH:D001014|ICD9:441.6|UMLS:C0741160|EFO:0001666|SCTID:73067008|ICD9:441.3|OMIM:607086|ICD9:441.1|MP:0006278	mondo.json	abdominal aortic aneurysm, ruptured|aortic aneurysm|aortic aneurysm (disease)|thoracoabdominal aortic aneurysm, ruptured|ruptured aortic aneurysm|thoracic aortic aneurysm which HAS ruptured|ruptured abdominal aortic aneurysm|ruptured thoracic aortic aneurysm|aortic aneurysm of unspecified site, ruptured|ruptured thoracoabdominal aortic aneurysm|thoracic aortic aneurysm, ruptured|ruptured thoracic aneurysm	http://purl.obolibrary.org/obo/MONDO_0005160	http://identifiers.org/snomedct/73067008|DOID:3627|UMLS:C1305122|UMLS:C0003486|http://identifiers.org/mesh/D001014|UMLS:C0741160|UMLS:C0265010|UMLS:C0265012	
MONDO:0044768	biolink:Disease	vagus nerve paraganglioma	A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia.	GARD:0008620|SCTID:253030004|NCIT:C8427|EFO:1000621|UMLS:CN036786	mondo.json	vagal paraganglioma|vagus nerve paraganglioma|vagal body paraganglioma|paraganglioma of the vagus nerve|paraganglioma of vagus nerve|paraganglioma of vagal body|paraganglioma of the vagal body	http://purl.obolibrary.org/obo/MONDO_0044768	http://identifiers.org/snomedct/253030004|UMLS:CN036786|NCIT:C8427	gard_rare
MONDO:0029130	biolink:Disease	polydactyly, postaxial, type A8		OMIM:618123	mondo.json	PAPA8|polydactyly, postaxial, type A8	http://purl.obolibrary.org/obo/MONDO_0029130	https://omim.org/entry/618123	
MONDO:0044767	biolink:Disease	childhood adrenal gland pheochromocytoma	A rare pheochromocytoma of the adrenal gland that occurs during childhood.	NCIT:C118822|GTR:AN0102113|GARD:0009368|GARD:9368|DOID:0070325|UMLS:CN036354	mondo.json	malignant childhood adrenal gland pheochromocytoma|pheochromocytoma, childhood|childhood adrenal gland pheochromocytoma	http://purl.obolibrary.org/obo/MONDO_0044767	UMLS:CN036354|DOID:0070325|NCIT:C118822	
MONDO:0020799	biolink:Disease	basal cell neoplasm	A neoplastic proliferation of basal cells in the epidermis (part of the skin) or other anatomic sites (most frequently the salivary glands). The basal cell neoplastic proliferation in the epidermis results in basal cell carcinomas. The basal cell neoplastic proliferation in the salivary glands can be benign, resulting in basal cell adenomas or malignant, resulting in basal cell adenocarcinomas.	SCTID:127570002|MESH:D018295|NCIT:C3784|ICDO:8090/1	mondo.json	neoplasm, basal cell|basal cell tumor	http://purl.obolibrary.org/obo/MONDO_0020799	http://identifiers.org/mesh/D018295|http://identifiers.org/snomedct/127570002|NCIT:C3784	
MONDO:0020798	biolink:Disease	hypoparathyroidism, familial isolated, 2		OMIM:618883	mondo.json	hypoparathyroidism, familial isolated 2|FIH2|hypoparathyroidism, familial isolated, 2	http://purl.obolibrary.org/obo/MONDO_0020798	https://omim.org/entry/618883	
MONDO:0017156	biolink:Disease	obsolete pulmonary arterial hypertension associated with chronic hemolytic anemia	OBSOLETE. Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia.	ICD9:416.8|Orphanet:275828|UMLS:C3698315|SCTID:697908003|EFO:0009195	mondo.json	PAH associated with chronic hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0017156	UMLS:C3698315|Orphanet:275828|http://identifiers.org/snomedct/697908003	ordo_group_of_disorders
MONDO:0030134	biolink:Disease	oculopharyngodistal myopathy 2		OMIM:618940	mondo.json	oculopharyngodistal myopathy 2|OCULOPHARYNGODISTAL MYOPATHY 2|OPDM2	http://purl.obolibrary.org/obo/MONDO_0030134	https://omim.org/entry/618940	
MONDO:0032797	biolink:Disease	myopathy, congenital, with tremor		OMIM:618524	mondo.json	MYOPATHY, CONGENITAL, WITH TREMOR|MYOTREM|Myogenic Tremor	http://purl.obolibrary.org/obo/MONDO_0032797	https://omim.org/entry/618524	
MONDO:0032798	biolink:Disease	ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features		OMIM:618527	mondo.json	ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES|IKSHD|ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies	http://purl.obolibrary.org/obo/MONDO_0032798	https://omim.org/entry/618527	
MONDO:0017157	biolink:Disease	pulmonary hypertension owing to lung disease and/or hypoxia		ICD9:416.8|SCTID:697910001|UMLS:CN202580|Orphanet:275837|UMLS:C3698136	mondo.json	PH due to lung disease and/or hypoxia|PH owing to lung disease and/or hypoxia|pulmonary hypertension due to lung disease and/or hypoxia	http://purl.obolibrary.org/obo/MONDO_0017157	UMLS:C3698136|Orphanet:275837|UMLS:CN202580|http://identifiers.org/snomedct/697910001	ordo_group_of_disorders|disease_grouping
MONDO:0032795	biolink:Disease	intellectual developmental disorder 59		OMIM:618522	mondo.json	MRD59|INTELLECTUAL DEVELOPMENTAL DISORDER 59|Mental Retardation, Autosomal Dominant 59|intellectual developmental disorder 59	http://purl.obolibrary.org/obo/MONDO_0032795	https://omim.org/entry/618522	
MONDO:0017158	biolink:Disease	obsolete pulmonary hypertension with unclear multifactorial mechanism		Orphanet:275844	mondo.json	PH with unclear multifactorial mechanism	http://purl.obolibrary.org/obo/MONDO_0017158	Orphanet:275844	ordo_group_of_disorders
MONDO:0017159	biolink:Disease	obsolete syndrome with pulmonary hypertension as a major feature		UMLS:CN202581|Orphanet:275853	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017159	Orphanet:275853|UMLS:CN202581	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0032796	biolink:Disease	hyper-IgE recurrent infection syndrome 4, autosomal recessive		DOID:0080596|OMIM:618523	mondo.json	hyper-IgE recurrent infection syndrome 4B, autosomal recessive|HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE|HIES4	http://purl.obolibrary.org/obo/MONDO_0032796	https://omim.org/entry/618523|DOID:0080596	
MONDO:0017152	biolink:Disease	obsolete pulmonary arterial hypertension associated with congenital heart disease	OBSOLETE. Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations with left to right cardiac shunts. Eisenmenger syndrome is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery.	ICD9:416.8|UMLS:C3697119|Orphanet:275803|SCTID:697905000|EFO:0009054|UMLS:CN243982	mondo.json	PAH associated with congenital heart disease	http://purl.obolibrary.org/obo/MONDO_0017152	UMLS:C3697119|Orphanet:275803|UMLS:CN243982|http://identifiers.org/snomedct/697905000	ordo_group_of_disorders
MONDO:0032793	biolink:Disease	O'Donnell-Luria-Rodan syndrome		OMIM:618512	mondo.json	O'Donnell-Luria-Rodan syndrome|ODLURO	http://purl.obolibrary.org/obo/MONDO_0032793	https://omim.org/entry/618512	
MONDO:0017153	biolink:Disease	obsolete pulmonary arterial hypertension associated with HIV infection	OBSOLETE. Pulmonary arterial hypertension (PAH) associated with HIV infection (PAH-HIV) is a form of PAH characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection.	Orphanet:275808|ICD9:416.8|SCTID:697904001|UMLS:C3697673|EFO:0009194	mondo.json	PAH associated with HIV infaction	http://purl.obolibrary.org/obo/MONDO_0017153	http://identifiers.org/snomedct/697904001|UMLS:C3697673|Orphanet:275808	ordo_group_of_disorders
MONDO:0032794	biolink:Disease	leber congenital amaurosis 19		OMIM:618513	mondo.json	LEBER CONGENITAL AMAUROSIS 19|LCA19	http://purl.obolibrary.org/obo/MONDO_0032794	https://omim.org/entry/618513	
MONDO:0032791	biolink:Disease	Coffin-Siris syndrome 10		OMIM:618506	mondo.json	COFFIN-SIRIS SYNDROME 10|CSS10	http://purl.obolibrary.org/obo/MONDO_0032791	https://omim.org/entry/618506	
MONDO:0017154	biolink:Disease	obsolete pulmonary arterial hypertension associated with portal hypertension	OBSOLETE. Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension.	UMLS:C1868851|Orphanet:275813|EFO:0009197|SCTID:445237003	mondo.json	POPH|Portopulmonary hypertension|PAH associated with portal hypertension	http://purl.obolibrary.org/obo/MONDO_0017154	UMLS:C1868851|http://identifiers.org/snomedct/445237003|Orphanet:275813	ordo_group_of_disorders
MONDO:0032792	biolink:Disease	neuropathy, hereditary motor and sensory, type VIc, with optic atrophy		OMIM:618511	mondo.json	HMSN6C|CMT 6C|CMT6C|HMSN 6C|Charcot-Marie-Tooth Disease, Type 6C|neuropathy, hereditary motor and sensory, type VIc, with optic atrophy	http://purl.obolibrary.org/obo/MONDO_0032792	https://omim.org/entry/618511	
MONDO:0017155	biolink:Disease	obsolete pulmonary arterial hypertension associated with schistosomiasis	OBSOLETE. Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis.	ICD9:416.8|SCTID:697907008|Orphanet:275823|UMLS:C3697477|EFO:0009198	mondo.json	PAH associated with schistosomiasis	http://purl.obolibrary.org/obo/MONDO_0017155	UMLS:C3697477|Orphanet:275823|http://identifiers.org/snomedct/697907008	ordo_group_of_disorders
MONDO:0017140	biolink:Disease	L1 syndrome	L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.	GARD:0012524|Orphanet:275543|UMLS:CN118845	mondo.json	corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome|L1 syndrome|CRASH syndrome|L1CAM syndrome	http://purl.obolibrary.org/obo/MONDO_0017140	UMLS:CN118845|Orphanet:275543	ordo_malformation_syndrome
HGNC:20202	biolink:NamedThing	CACNA2D4			mondo.json		http://identifiers.org/hgnc/20202		
MONDO:0032799	biolink:Disease	mitochondrial DNA depletion syndrome 16 (hepatic type)		OMIM:618528	mondo.json	MTDPS16|MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE)	http://purl.obolibrary.org/obo/MONDO_0032799	https://omim.org/entry/618528	
MONDO:0020797	biolink:Disease	decompression sickness	A condition occurring as a result of exposure to a rapid fall in ambient pressure. Gases, nitrogen in particular, come out of solution and form bubbles in body fluid and blood. These gas bubbles accumulate in joint spaces and the peripheral circulation impairing tissue oxygenation causing disorientation, severe pain, and potentially death.	UMLS:C0011119|SCTID:89684003|MESH:D003665|ICD9:993.3	mondo.json	Decompression sickness|CAISSON DIS|bends|Caisson Disease|The bends|the bends|Compressed-air disease|compressed-air disease|Rapture of the deep syndrome|Decompression Sickness|Diseases, Caisson|Compressed air disease|Caisson disease|caisson disease|Caisson Diseases|Sickness, Decompression|decompression sickness|Divers' palsy|divers' palsy|Divers' paralysis|Bends|Disease, Caisson|divers' paralysis	http://purl.obolibrary.org/obo/MONDO_0020797	http://identifiers.org/mesh/D003665|UMLS:C0011119|http://identifiers.org/snomedct/89684003	
MONDO:0044786	biolink:Disease	solid pseudopapillary neoplasm of the pancreas	A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases.	NCIT:C37212|ONCOTREE:SPN	mondo.json	solid pseudopapillary tumor of the pancreas|solid pseudopapillary neoplasm of the pancreas|Frantz tumor	http://purl.obolibrary.org/obo/MONDO_0044786	NCIT:C37212	
MONDO:0005178	biolink:Disease	osteoarthritis	A noninflammatory degenerative joint disease occurring chiefly in older persons, characterised by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity.	HP:0002758|GARD:0011929|ICD10CM:M15-M19|NCIT:C3293|ICD9:715.3|ICD10CM:M19|EFO:0002506|DOID:8398|UMLS:C0029408|MESH:D010003|SCTID:396275006	mondo.json	degenerative arthritis|hypertrophic arthritis|osteoarthrosis|osteoarthrosis and allied disorder|degenerative joint disease	http://purl.obolibrary.org/obo/MONDO_0005178	http://identifiers.org/mesh/D010003|http://purl.bioontology.org/ontology/ICD10CM/M19|UMLS:C0029408|DOID:8398|NCIT:C3293|http://identifiers.org/snomedct/396275006|http://purl.bioontology.org/ontology/ICD10CM/M15-M19	
MONDO:0020796	biolink:Disease	Silver-Russell syndrome 1		OMIM:180860	mondo.json	SRS1	http://purl.obolibrary.org/obo/MONDO_0020796	https://omim.org/entry/180860	
MONDO:0044785	biolink:Disease	desmoplastic melanoma	A melanoma of the skin characterized by a proliferation of atypical spindled melanocytes in the dermis, in a background of abundant collagen. It usually presents as an amelanotic raised nodular lesion.	ONCOTREE:DESM|NCIT:C37257	mondo.json	desmoplastic melanoma|desmoplastic cutaneous (skin) melanoma	http://purl.obolibrary.org/obo/MONDO_0044785	NCIT:C37257	
MONDO:0005177	biolink:Disease	serous cystadenoma	A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion.	NCIT:C3783|ICDO:8441/0|EFO:0002504	mondo.json	serous cystadenoma|serous cystoma	http://purl.obolibrary.org/obo/MONDO_0005177	NCIT:C3783	
MONDO:0020795	biolink:Disease	Silver-Russell syndrome 5		OMIM:618908	mondo.json	SILVER-RUSSELL SYNDROME 5|SRS5|Silver-Russell syndrome 5	http://purl.obolibrary.org/obo/MONDO_0020795	https://omim.org/entry/618908	
MONDO:0044788	biolink:Disease	perihilar intrahepatic cholangiocarcinoma	An intrahepatic cholangiocarcinoma that arises from the intrahepatic large bile ducts.	ONCOTREE:PHCH|NCIT:C96804	mondo.json	perihilar ICC|perihilar cholangiocarcinoma|perihilar bile duct carcinoma|perihilar intrahepatic cholangiocarcinoma	http://purl.obolibrary.org/obo/MONDO_0044788	NCIT:C96804	
MONDO:0044787	biolink:Disease	nasal cavity and paranasal sinus squamous cell carcinoma	A rare, keratinizing or non-keratinizing squamous cell carcinoma arising from the mucosal epithelium of the nasal cavity or the paranasal sinuses. It affects most often the maxillary sinus. Less frequently, it arises from the nasal cavity, ethmoid sinus, sphenoid sinus, and frontal sinus. Symptoms include nasal fullness, epistaxis, rhinorhea, pain, and paresthesia. Patients with nasal squamous cell carcinoma usually present earlier than patients with maxillary sinus carcinoma and have a better prognosis compared to the latter group.	NCIT:C68611|UMLS:C0280332	mondo.json	nasal cavity and paranasal sinus squamous cell carcinoma|nasal cavity and paranasal sinus squamous cell cancer	http://purl.obolibrary.org/obo/MONDO_0044787	NCIT:C68611|UMLS:C0280332	
MONDO:0020794	biolink:Disease	colorectal medullary carcinoma	A rare, invasive colorectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.	NCIT:C43590	mondo.json	colorectal medullary carcinoma	http://purl.obolibrary.org/obo/MONDO_0020794	NCIT:C43590	
HGNC:10879	biolink:NamedThing	STIL			mondo.json		http://identifiers.org/hgnc/10879		
MONDO:0005179	biolink:Disease	ovarian adenoma benign	A benign adenoma of ovary	EFO:0002507	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005179		
MONDO:0005174	biolink:Disease	acute hypotension	Acute form of hypotension (disease).	EFO:0002497	mondo.json	acute hypotension (disease)|hypotension (disease), acute	http://purl.obolibrary.org/obo/MONDO_0005174		
MONDO:0044782	biolink:Disease	esophageal ulcer	An ulcerated lesion in the esophageal wall.	HP:0004791|NCIT:C26950	mondo.json	esophagus ulcer|esophageal ulcer|esophagus ulcer disease|ulcer disease of esophagus	http://purl.obolibrary.org/obo/MONDO_0044782	NCIT:C26950	
MONDO:0020793	biolink:Disease	oculopharyngodistal myopathy 1		OMIM:164310	mondo.json	faciooculolaryngopharyngeal myopathy with distal and respiratory involvement|oculopharyngodistal myopathy|oculopharyngodistal myopathy 1|OPDM1	http://purl.obolibrary.org/obo/MONDO_0020793	https://omim.org/entry/164310	
MONDO:0044781	biolink:Disease	nephrotic syndrome of childhood - steroid sensitive	Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids.	SCTID:236380004|UMLS:C0403396|NCIT:C122797	mondo.json	nephrotic syndrome of childhood - steroid sensitive|steroid-sensitive nephrotic syndrome|steroid-responsive nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0044781	http://identifiers.org/snomedct/236380004|NCIT:C122797|UMLS:C0403396	
MONDO:0005173	biolink:Disease	actinic keratosis	A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, and hyperkeratotic variants.	ICD9:702.19|EFO:0002496|SCTID:201101007|SCTID:46795000|MESH:D055623|HP:0025127|NCIT:C3148|ICD10CM:L57.0|ICD9:702.0|UMLS:C0022602|DOID:8866	mondo.json	actinic (solar) keratosis|SK - solar keratosis|solar keratosis|actinic keratosis|actinic keratosis (disease)|senile keratosis|Senile keratosis|Senile hyperkeratosis	http://purl.obolibrary.org/obo/MONDO_0005173	UMLS:C0022602|http://purl.bioontology.org/ontology/ICD10CM/L57.0|NCIT:C3148|DOID:8866|http://identifiers.org/mesh/D055623|http://identifiers.org/snomedct/201101007	
MONDO:0020792	biolink:Disease	dwarfism with tall vertebrae		MESH:C535725|OMIM:126950	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020792	https://omim.org/entry/126950|http://identifiers.org/mesh/C535725	n_of_one
MONDO:0005176	biolink:Disease	benign insulitis	A benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic β-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation.	PMID:20545565|EFO:0002502|Wikipedia:Insulitis	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005176		
MONDO:0044784	biolink:Disease	myxoma	A benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation.	SCTID:404082003|ONCOTREE:MYXO|NCIT:C6577	mondo.json	Myxoma|MYXOMA, BENIGN	http://purl.obolibrary.org/obo/MONDO_0044784	NCIT:C6577|http://identifiers.org/snomedct/404082003	
MONDO:0020791	biolink:Disease	corneal dystrophy, Meesmann, 1		OMIM:122100	mondo.json	MECD1|Meesmann Corneal Dystrophy|meesmann corneal dystrophy 1|Corneal Dystrophy, Juvenile Epithelial, of Meesmann|CORNEAL DYSTROPHY, MEESMANN, 1|Corneal Dystrophy, Meesmann Epithelial	http://purl.obolibrary.org/obo/MONDO_0020791	https://omim.org/entry/122100	
MONDO:0005175	biolink:Disease	aggressive insulitis	Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes.	EFO:0002498	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005175		
MONDO:0020790	biolink:Disease	gaze palsy, familial horizontal, with progressive scoliosis 1		OMIM:607313	mondo.json	Ophthalmoplegia, Progressive External, and Scoliosis|HGPPS1|HGPPS|gaze palsy, familial horizontal, with progressive scoliosis 1|gaze palsy, familial horizontal, with progressive scoliosis, 1	http://purl.obolibrary.org/obo/MONDO_0020790	https://omim.org/entry/607313	
MONDO:0044783	biolink:Disease	solid papillary breast carcinoma	A well circumscribed, low grade neoplasm that arises from the breast. It is characterized by the presence of sheets of malignant epithelial cells that are supported by fibrovascular structures. When there is an invasive component present, it is usually a mucinous carcinoma.	ONCOTREE:SPC|NCIT:C6870	mondo.json	solid Papillary breast carcinoma|solid Papillary carcinoma of the breast	http://purl.obolibrary.org/obo/MONDO_0044783	NCIT:C6870	
MONDO:0005170	biolink:Disease	myeloid neoplasm	Proliferation of myeloid cells originating from a primitive stem cell.	UMLS:C2939461|EFO:0002427|DOID:0070004|ONCOTREE:MYELOID|ICDO:9975/1|NCIT:C9290	mondo.json	myeloid neoplasm|myeloid tumor|myeloid malignancy	http://purl.obolibrary.org/obo/MONDO_0005170	DOID:0070004|UMLS:C2939461|NCIT:C9290	
MONDO:0005172	biolink:Disease	skeletal system disorder	A disease involving the skeletal system.	EFO:0002461|SCTID:88230002|UMLS:C0263661	mondo.json	disorder of skeletal system|disease of bone and/or joint|skeletal system disease|disease or disorder of skeletal system|osteoarthropathy|disease of skeletal system|skeletal system disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005172	UMLS:C0263661|http://identifiers.org/snomedct/88230002	
MONDO:0005171	biolink:Disease	obsolete chronic myeloproliferative disorder	OBSOLETE. Chronic form of myeloproliferative neoplasm.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0005171		
HGNC:10882	biolink:NamedThing	SIM1			mondo.json		http://identifiers.org/hgnc/10882		
MONDO:0017149	biolink:Disease	drug- or toxin-induced pulmonary arterial hypertension	Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal.	Orphanet:275786|EFO:0009192|UMLS:C0340544	mondo.json	drug- or toxin-induced PAH	http://purl.obolibrary.org/obo/MONDO_0017149	UMLS:C0340544|Orphanet:275786	disease_grouping|ordo_group_of_disorders
HGNC:10887	biolink:NamedThing	SIX1			mondo.json		http://identifiers.org/hgnc/10887		
MONDO:0044778	biolink:Disease	nodular lymphocyte predominant Hodgkin lymphoma	A monoclonal B-cell neoplasm characterized by a nodular, or a nodular and diffuse proliferation of scattered large neoplastic cells known as popcorn or lymphocyte predominant cells (LP cells)- formerly called L&H cells for lymphocytic and/or histiocytic Reed-Sternberg cell variants. The LP cells lack CD15 and CD30 in nearly all instances. Patients are predominantly male, frequently in the 30-50 year age group. Most patients present with limited stage disease (localized peripheral lymphadenopathy, stage I or II). (WHO 2008)	Orphanet:86893|UMLS:C1334968|NCIT:C7258|MEDGEN:233758|ONCOTREE:NLPHL	mondo.json	nodular lymphocyte predominant Hodgkin lymphoma|NLPHL|nodular lymphocyte-predominant Hodgkin lymphoma|Hodgkin lymphoma nodular LP, NOS|Hodgkin lymphoma nodular lymphocyte predominant type, NOS|nodular lymphocyte predominant Hodgkin's lymphoma	http://purl.obolibrary.org/obo/MONDO_0044778	UMLS:C1334968|Orphanet:86893|NCIT:C7258	
MONDO:0020789	biolink:Disease	pseudo-TORCH syndrome 1		OMIM:251290	mondo.json	pseudo-TORCH syndrome|pseudo-TORCH syndrome 1|PTORCH1|pseudo-TORCH syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0020789	https://omim.org/entry/251290	
MONDO:0020788	biolink:Disease	hypomagnesemia, seizures, and intellectual disability 2		OMIM:618314	mondo.json	HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2|HOMGSMR2	http://purl.obolibrary.org/obo/MONDO_0020788	https://omim.org/entry/618314	
MONDO:0020787	biolink:Disease	hypomagnesemia, seizures, and intellectual disability 1		OMIM:616418	mondo.json	HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1|hypomagnesemia, seizures, and mental retardation|HOMGSMR1	http://purl.obolibrary.org/obo/MONDO_0020787	https://omim.org/entry/616418	
MONDO:0017145	biolink:Disease	beta-thalassemia and related diseases		UMLS:CN202571|Orphanet:275749	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017145	Orphanet:275749|UMLS:CN202571	disease_grouping|ordo_group_of_disorders
MONDO:0017146	biolink:Disease	sickle cell disease and related diseases		Orphanet:275752|UMLS:CN202572	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017146	Orphanet:275752|UMLS:CN202572	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
HGNC:19218	biolink:NamedThing	PLCZ1			mondo.json		http://identifiers.org/hgnc/19218		
MONDO:0017147	biolink:Disease	idiopathic pulmonary arterial hypertension	Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH.	UMLS:C3203102|ICD9:416.0|UMLS:CN202574|MedDRA:10065151|Orphanet:275766|SCTID:697898008	mondo.json	IPAH|primary pulmonary arterial hypertension	http://purl.obolibrary.org/obo/MONDO_0017147	http://identifiers.org/snomedct/697898008|UMLS:C3203102|Orphanet:275766|UMLS:CN202574	ordo_etiological_subtype
MONDO:0017148	biolink:Disease	heritable pulmonary arterial hypertension	Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.	SCTID:697897003|UMLS:CN202575|NCIT:C121945|OMIMPS:178600|Orphanet:275777	mondo.json	hereditary pulmonary arterial hypertension|familial pulmonary arterial hypertension|HpaH|FPAH	http://purl.obolibrary.org/obo/MONDO_0017148	https://omim.org/phenotypicSeries/PS178600|NCIT:C121945|http://identifiers.org/snomedct/697897003|Orphanet:275777|UMLS:CN202575	ordo_etiological_subtype
MONDO:0017141	biolink:Disease	obsolete hemorrhagic disorder due to a constitutional thrombocytopenia		Orphanet:275729|UMLS:CN227098	mondo.json	rare bleeding disorder due to a constitutional thrombocytopenia|rare coagulopathy due to a constitutional thrombocytopenia|rare coagulopathy due to a quantitative platelet defect|rare bleeding disorder due to a quantitative platelet defect|rare hemorrhagic disorder due to a constitutional thrombocytopenia|rare hemorrhagic disorder due to a quantitative platelet defect	http://purl.obolibrary.org/obo/MONDO_0017141	UMLS:CN227098|Orphanet:275729	ordo_group_of_disorders|disease_grouping
MONDO:0017142	biolink:Disease	obsolete hemorrhagic disorder due to a qualitative platelet defect		UMLS:CN227099|Orphanet:275736	mondo.json	rare hemorrhagic disorder due to a qualitative platelet defect|rare hemorrhagic disorder due to a constitutional thrombopathy|rare bleeding disorder due to a qualitative platelet defect|rare coagulopathy due to a qualitative platelet defect|rare bleeding disorder due to a constitutional thrombopathy|rare coagulopathy due to a constitutional thrombopathy	http://purl.obolibrary.org/obo/MONDO_0017142	Orphanet:275736|UMLS:CN227099	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0017143	biolink:Disease	obsolete genetic infertility	OBSOLETE. Genetic infertility.	Orphanet:275742	mondo.json	genetic infertility|hereditary infertility disorder	http://purl.obolibrary.org/obo/MONDO_0017143	Orphanet:275742	ordo_group_of_disorders
MONDO:0017144	biolink:Disease	alpha-thalassemia and related diseases		UMLS:CN202570|Orphanet:275745	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017144	Orphanet:275745|UMLS:CN202570	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0019791	biolink:Disease	recessive mitochondrial ataxia syndrome		Orphanet:94125|UMLS:CN206743|EFO:0008816	mondo.json	MIRAS	http://purl.obolibrary.org/obo/MONDO_0019791	Orphanet:94125|UMLS:CN206743	ordo_disease
MONDO:0044791	biolink:Disease	combined hepatocellular carcinoma and cholangiocarcinoma	A rare tumor containing unequivocal elements of both hepatocellular and cholangiocarcinoma that are intimately admixed. This tumor should be distinguished from separate hepatocellular carcinoma and cholangiocarcinoma arising in the same liver. The prognosis of this tumor is poor.	NCIT:C3828|SCTID:274902006|Orphanet:529852	mondo.json	carcinoma of the liver and intrahepatic biliary tract|liver and intrahepatic biliary tract carcinoma|combined hepatocellular carcinoma and cholangiocarcinoma|combined hepatocellular cancer and cholangiocarcinoma (bile duct cancer)|combined hepatocellular cancer and intrahepatic bile duct cancer (cholangiocarcinoma)|Cholangiohepatoma|Hepatocholangiocarcinoma|carcinoma of liver and intrahepatic biliary tract|Mixed hepatocellular cholangiocarcinoma	http://purl.obolibrary.org/obo/MONDO_0044791	NCIT:C3828|Orphanet:529852|http://identifiers.org/snomedct/274902006	ordo_disease
MONDO:0019790	biolink:Disease	neuroleptic malignant syndrome	Neuroleptic malignant syndrome (NMS) is an idiosyncratic condition associated with administration of antipsychotic and other central dopaminergic blockers, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness.	NCIT:C94829|ICD9:333.92|MESH:D009459|UMLS:C0027849|SCTID:15244003|DOID:14464|ICD10CM:G21.0|EFO:1001379|MedDRA:10029282|GARD:0007195|Orphanet:94093	mondo.json	NMS	http://purl.obolibrary.org/obo/MONDO_0019790	DOID:14464|http://purl.bioontology.org/ontology/ICD10CM/G21.0|http://identifiers.org/snomedct/15244003|Orphanet:94093|http://identifiers.org/mesh/D009459|UMLS:C0027849|NCIT:C94829	gard_rare|ordo_disease
MONDO:0044790	biolink:Disease	obsolete congenital melanocytic nevus			mondo.json		http://purl.obolibrary.org/obo/MONDO_0044790		
MONDO:0005149	biolink:Disease	pulmonary hypertension	Increased pressure within the pulmonary circulation due to lung or heart disorder.	SCTID:70995007|MedDRA:10037400|DOID:6432|EFO:0001361|MESH:D006976	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005149	http://identifiers.org/meddra/10037400|DOID:6432|http://identifiers.org/mesh/D006976|http://identifiers.org/snomedct/70995007	
MONDO:0005148	biolink:Disease	type 2 diabetes mellitus	A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity.	MESH:D003924|EFO:0001360|DOID:9352|NCIT:C26747|OMIM:125853|UMLS:CN244395|KEGG:04930|SCTID:44054006	mondo.json	diabetes mellitus, type II|diabetes mellitus, type 2|diabetes mellitus, noninsulin-dependent, 2|noninsulin-dependent diabetes mellitus|non-insulin dependent diabetes|NIDDM|diabetes mellitus, non-insulin-dependent, susceptibility to|type 2 diabetes mellitus, susceptibility to|diabetes mellitus, noninsulin-dependent|non-insulin-dependent diabetes mellitus|noninsulin dependent diabetes|diabetes mellitis type 2|non-insulin dependent diabetes mellitus|type II diabetes|adult onset diabetes|diabetes mellitus, type 2, susceptibility to|diabetes mellitus, noninsulin-dependent, late onset|diabetes mellitis type II|insulin resistance, susceptibility to|diabetes mellitus, type 2, protection against|type 2 diabetes mellitus|maturity-onset diabetes|adult-onset diabetes|diabetes mellitus, noninsulin-dependent, susceptibility to|type II diabetes mellitus|diabetes mellitus, noninsulin-dependent, association with|type 2 diabetes|insulin resistance, severe, digenic|T2DM - type 2 diabetes mellitus|diabetes mellitus, type II, susceptibility to|type 2 diabetes mellitus non-insulin dependent|diabetes, type 2|hypertension, insulin resistance-related, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0005148	UMLS:CN244395|https://omim.org/entry/125853|http://identifiers.org/mesh/D003924|http://identifiers.org/snomedct/44054006|DOID:9352|NCIT:C26747	
MONDO:0044797	biolink:Disease	desmoplastic nevus	A benign melanocytic nevus characterized by the presence of desmoplastic stroma.	NCIT:C4497|UMLS:C0346098	mondo.json	Desmoplastic Nevus	http://purl.obolibrary.org/obo/MONDO_0044797	NCIT:C4497|UMLS:C0346098	
MONDO:0020786	biolink:Disease	obsolete short sleep, familial natural, 2		OMIM:618591	mondo.json	FNSS2|SHORT SLEEP, FAMILIAL NATURAL, 2|short sleep, familial natural, 2	http://purl.obolibrary.org/obo/MONDO_0020786	https://omim.org/entry/618591	
MONDO:0005145	biolink:Disease	sporadic amyotrophic lateral sclerosis	Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history.	EFO:0001357|OMIM:105400	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005145		
FOODON:00001092	biolink:NamedThing	vertebrate animal food product	A food product which is derived from or produced by an animal that has a vertibrae.		mondo.json		http://purl.obolibrary.org/obo/FOODON_00001092		
MONDO:0044796	biolink:Disease	spindle cell nevus	A nevus characterized by the presence of spindle-shaped melanocytes.	SCTID:253038006|NCIT:C66758	mondo.json	spindle cell nevus	http://purl.obolibrary.org/obo/MONDO_0044796	NCIT:C66758|http://identifiers.org/snomedct/253038006	
MONDO:0020785	biolink:Disease	capillary malformation-arteriovenous malformation 2		OMIM:618196	mondo.json	CMAVM2|CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2	http://purl.obolibrary.org/obo/MONDO_0020785	https://omim.org/entry/618196	
MONDO:0005144	biolink:Disease	familial amyotrophic lateral sclerosis	An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome.	EFO:0001356|OMIM:616437|OMIMPS:105400	mondo.json	hereditary amyotrophic lateral sclerosis	http://purl.obolibrary.org/obo/MONDO_0005144	https://omim.org/phenotypicSeries/PS105400	
HGNC:10848	biolink:NamedThing	SHH			mondo.json		http://identifiers.org/hgnc/10848		
FOODON:00001093	biolink:NamedThing	cereal grain food product			mondo.json		http://purl.obolibrary.org/obo/FOODON_00001093		
MONDO:0005147	biolink:Disease	type 1 diabetes mellitus	A chronic condition characterized by minimal or absent production of insulin by the pancreas.	DOID:9744|EFO:0001359|MESH:D003922|KEGG:04940|OMIM:222100|Orphanet:243377|OMIM:611895|NCIT:C2986|SCTID:46635009	mondo.json	insulin dependent diabetes|type I diabetes|IDDM|diabetes mellitis type 1|type I diabetes mellitus|juvenile diabetes|type 1 diabetes|immune mediated diabetes|diabetes mellitis type I|insulin-dependent diabetes mellitus	http://purl.obolibrary.org/obo/MONDO_0005147	http://identifiers.org/mesh/D003922|Orphanet:243377|NCIT:C2986|http://identifiers.org/snomedct/46635009|https://omim.org/entry/222100|DOID:9744	
MONDO:0020784	biolink:Disease	obsolete short sleep, familial natural, 1		OMIM:612975	mondo.json	FNSS1|SHORT SLEEP, FAMILIAL NATURAL, 1|Short Sleep Phenotype|short sleep, familial natural, 1	http://purl.obolibrary.org/obo/MONDO_0020784	https://omim.org/entry/612975	
MONDO:0005146	biolink:Disease	post-traumatic stress disorder	An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term.	DOID:2055|EFO:0001358|MESH:D013313|NCIT:C3389|SCTID:47505003|NIFSTD:birnlex_12679|ICD9:309.81	mondo.json	combat neurosis|traumatic neurosis|PTSD|post-traumatic stress disorder	http://purl.obolibrary.org/obo/MONDO_0005146	http://identifiers.org/mesh/D013313|http://identifiers.org/snomedct/47505003|DOID:2055|NCIT:C3389	
MONDO:0020783	biolink:Disease	capillary malformation-arteriovenous malformation 1		OMIM:608354	mondo.json	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1|capillary malformation-arteriovenous malformation 1|Capillary Malformation-Arteriovenous Malformation|CMAVM1	http://purl.obolibrary.org/obo/MONDO_0020783	https://omim.org/entry/608354	
MONDO:0044793	biolink:Disease	spitz nevus	A benign, acquired or congenital, usually single skin lesion. It can occur on any area of the body, but most commonly occurs on the face of children and the thighs of young females. It is characterized by a proliferation of large spindle, oval, or large epithelioid melanocytes in the dermal-epidermal junction. The melanocytic proliferation subsequently extends into the dermis.	NCIT:C27007|GARD:0010412|ICDO:8770/0	mondo.json	spitz naevus|juvenile nevus|benign juvenile melanoma|spitz nevi|spitz nevus|spindle and/ or epithelioid cell Nevus	http://purl.obolibrary.org/obo/MONDO_0044793	NCIT:C27007	gard_rare
MONDO:0020782	biolink:Disease	chronic gingivitis	Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth.	SCTID:72621003|UMLS:C0008684|ICD9:523.10|ICD9:523.1|NCIT:C34474	mondo.json	Chronic gingivitis|chronic gingivitis|Chronic Gingivitis	http://purl.obolibrary.org/obo/MONDO_0020782	http://identifiers.org/snomedct/72621003|NCIT:C34474|UMLS:C0008684	
MONDO:0005141	biolink:Disease	Pseudomonas infection	Infections with bacteria of the genus pseudomonas.	SCTID:63398001|ICD9:041.7|EFO:0001076|MESH:D011552	mondo.json	Pseudomonas disease or disorder|Pseudomonas infectious disease|Pseudomonas caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005141	http://identifiers.org/mesh/D011552|http://identifiers.org/snomedct/63398001	
MONDO:0005140	biolink:Disease	ovarian carcinoma	A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms. --2002	DOID:4001|EFO:0001075|NCIT:C4908	mondo.json	carcinoma of the ovary|carcinoma of ovary|ovarian epithelial cancer|ovary carcinoma|ovarian carcinoma|ovarian cancer|epithelial ovarian cancer	http://purl.obolibrary.org/obo/MONDO_0005140	DOID:4001|NCIT:C4908	
MONDO:0044792	biolink:Disease	large congenital melanocytic nevus	A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.	UMLS:C1842036|OMIM:137550|NCIT:C4234|GARD:0002469|UMLS:C1318558|SCTID:398696001|ONCOTREE:SKCN|Orphanet:626|DOID:0111359|ICDO:8761/1|NCIT:C3944|MedDRA:10072036|SCTID:254815002	mondo.json	congenital pigmented nevus of skin|congenital pigmented nevus of the skin|congenital melanocytic nevus of skin|giant pigmented nevus|congenital melanocytic nevus of the skin|melanocytic nevus syndrome, congenital, somatic|giant pigmented hairy nevus|giant congenital pigmented Nevus|congenital melanocytic nevi|giant hairy nevus|congenital hairy nevus|congenital pigmented skin nevus|congenital melanocytic nevus|pigmented moles|giant pigmented nevus of skin|giant pigmented nevus of the skin|melanocytic nevus syndrome, congenital|giant congenital melanocytic nevus|nevus spilus|GPHN|large congenital melanocytic nevus|bathing trunk nevus|congenital nevus of skin|congenital nevus|LCMN|spitz nevus|GMN|congenital pigmented melanocytic Nevus|congenital nevus of the skin|congenital skin nevus|spitz nevus or nevus spilus, somatic|congenital giant pigmented nevus|CMNS|congenital pigmented nevus|giant congenital nevus	http://purl.obolibrary.org/obo/MONDO_0044792	https://omim.org/entry/137550|http://identifiers.org/snomedct/398696001|NCIT:C3944|UMLS:C1842036|DOID:0111359|Orphanet:626|http://identifiers.org/snomedct/254815002|NCIT:C4234|UMLS:C1318558	gard_rare|ordo_disease
MONDO:0020781	biolink:Disease	encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1		EFO:0009158|Orphanet:555407|OMIM:617186	mondo.json	encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy|NAD(P)HX epimerase deficiency|PEBEL1|ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1	http://purl.obolibrary.org/obo/MONDO_0020781	https://omim.org/entry/617186|Orphanet:555407	
MONDO:0020780	biolink:Disease	cone-rod dystrophy and hearing loss 2		OMIM:618358	mondo.json	CONE-ROD DYSTROPHY AND HEARING LOSS 2|CRDHL2	http://purl.obolibrary.org/obo/MONDO_0020780	https://omim.org/entry/618358	
FOODON:00001094	biolink:NamedThing	fermented beverage		SUBSET_SIREN:F5644	mondo.json	alcoholic beverage	http://purl.obolibrary.org/obo/FOODON_00001094		"subset_siren"
MONDO:0044795	biolink:Disease	epithelioid cell nevus	A nevus characterized by the presence of large epithelioid melanocytes.	UMLS:C0259820|NCIT:C66757	mondo.json	epithelioid cell nevus	http://purl.obolibrary.org/obo/MONDO_0044795	NCIT:C66757|UMLS:C0259820	
MONDO:0005143	biolink:Disease	Pseudomonas aeruginosa PA14 infection	A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14.	EFO:0001078	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005143		
MONDO:0005142	biolink:Disease	Pseudomonas aeruginosa CF5 infection	A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5.	EFO:0001077	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005142		
MONDO:0044794	biolink:Disease	benign melanocytic skin nevus	A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus.	UMLS:C1456781|NCIT:C7571	mondo.json	benign skin nevus|benign melanocytic nevus of skin|benign melanocytic nevus of the skin|benign melanocytic nevus|benign melanocytic skin nevus|benign nevus of skin|benign nevus of the skin|benign mole	http://purl.obolibrary.org/obo/MONDO_0044794	NCIT:C7571|UMLS:C1456781	
NCBITaxon:140693	biolink:OrganismalEntity	Pulicomorpha		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_140693		
MONDO:0020779	biolink:Disease	cartilage development disorder	Any dysfunction in the growth of cartilage.	NCIT:C34466|ICD9:756.9|ICD9:756.4|SCTID:67988000|UMLS:C0008449	mondo.json	cartilage development disorder|Congenital anomaly of cartilage|chondrodystrophy|abnormal development of cartilage	http://purl.obolibrary.org/obo/MONDO_0020779	NCIT:C34466|UMLS:C0008449|http://identifiers.org/snomedct/67988000	
MONDO:0017138	biolink:Disease	Opitz G/BBB syndrome	Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS).	ICD9:758.89|Orphanet:2745|NCIT:C125487|UMLS:CN202554|SCTID:81771002|OMIMPS:300000|DOID:0050780|GARD:0000193|KEGG:H00583	mondo.json	hypertelorism hypospadias syndrome|hypertelorism with esophageal abnormality and hypospadias|Opitz GBBB syndrome|Opitz-GBBB syndrome|hypertelorism-oesophageal abnormality-hypospadias syndrome|BBB syndrome|Opitz syndrome|telecanthus with associated abnormalities|hypospadias-hypertelorism syndrome|Opitz G/BBB syndrome|G syndrome|Opitz BBBG syndrome|Opitz-Frias syndrome|Opitz-G syndrome, type 2|hypospadias-dysphagia syndrome|hypospadias-dysphagia, syndrome|Opitz G syndrome|GBBB syndrome	http://purl.obolibrary.org/obo/MONDO_0017138	UMLS:CN202554|Orphanet:2745|http://identifiers.org/snomedct/81771002|DOID:0050780|https://omim.org/phenotypicSeries/PS300000|NCIT:C125487	ordo_inheritance_inconsistent|gard_rare|ordo_malformation_syndrome
MONDO:0020778	biolink:Disease	cone-rod dystrophy and hearing loss 1		OMIM:617236	mondo.json	CRDHL1|cone-rod dystrophy and hearing loss|CONE-ROD DYSTROPHY AND HEARING LOSS 1|Crdhl	http://purl.obolibrary.org/obo/MONDO_0020778	https://omim.org/entry/617236	
MONDO:0017139	biolink:Disease	oromandibular-limb hypogenesis syndrome	Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).	UMLS:CN202556|GARD:0004116|Orphanet:2749	mondo.json	oro-mandibular-limb hypogenesis syndrome|Oroacral syndrome	http://purl.obolibrary.org/obo/MONDO_0017139	UMLS:CN202556|Orphanet:2749	disease_grouping|ordo_group_of_disorders
MONDO:0044789	biolink:Disease	digital papillary eccrine carcinoma	An adenocarcinoma arising from the sweat glands. Most cases present as nodular lesions on the digits, usually in the hands. It is characterized by the presence of epithelial cells in the dermis forming nodules. Cystic structures containing papillary projections are also present. It may recur and metastasize, most commonly to the lungs.	NCIT:C27534	mondo.json	papillary eccrine carcinoma of digit|digital papillary eccrine carcinoma|papillary digital eccrine carcinoma|digital papillary carcinoma|digit papillary eccrine carcinoma|digital papillary carcinoma of skin	http://purl.obolibrary.org/obo/MONDO_0044789	NCIT:C27534	
MONDO:0020777	biolink:Disease	congenital disorder of glycosylation with defective fucosylation 2		OMIM:618324	mondo.json	CDGF2|CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2	http://purl.obolibrary.org/obo/MONDO_0020777	https://omim.org/entry/618324	
MONDO:0020776	biolink:Disease	chlamydiaceae infections	Infections with bacteria of the family CHLAMYDIACEAE.	UMLS:C0008153|MESH:D002694|EFO:1001288	mondo.json	Infections, Chlamydiaceae|Infection, Chlamydiaceae|Chlamydiaceae Infections|Chlamydiaceae Infection	http://purl.obolibrary.org/obo/MONDO_0020776	http://identifiers.org/mesh/D002694|UMLS:C0008153	
MONDO:0019797	biolink:Disease	acrodysostosis	Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.	SCTID:66758006|GARD:0005724|UMLS:C0220659|DOID:14669|ICD9:756.59|Orphanet:950|MESH:C538179|OMIMPS:101800	mondo.json	peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome|Arkless-Graham syndrome|Maroteaux-Malamut syndrome|nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome|acrodysplasia	http://purl.obolibrary.org/obo/MONDO_0019797	DOID:14669|Orphanet:950|http://identifiers.org/snomedct/66758006|UMLS:C0220659|https://omim.org/phenotypicSeries/PS101800|http://identifiers.org/mesh/C538179	ordo_malformation_syndrome|gard_rare
MONDO:0017134	biolink:Disease	odonto-onycho dysplasia-alopecia syndrome	Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985.	Orphanet:2722|UMLS:CN202534|GARD:0004051	mondo.json	odonto onycho dysplasia with alopecia	http://purl.obolibrary.org/obo/MONDO_0017134	Orphanet:2722|UMLS:CN202534	ordo_malformation_syndrome
MONDO:0019796	biolink:Disease	acrocephalosyndactyly	Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations.	Orphanet:946|GARD:0000486|ICD9:755.55|EFO:0004123|MedDRA:10000590|DOID:12960|SCTID:268262006|NCIT:C34348	mondo.json	acrocephalosyndactylia|ACS|acrocephalosyndactyly	http://purl.obolibrary.org/obo/MONDO_0019796	NCIT:C34348|Orphanet:946|http://identifiers.org/snomedct/268262006|DOID:12960	disease_grouping|ordo_group_of_disorders|gard_rare
MONDO:0017135	biolink:Disease	olivopontocerebellar atrophy-deafness syndrome	Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.	GARD:0004070|Orphanet:2732|UMLS:CN202542	mondo.json	olivopontocerebellar atrophy deafness	http://purl.obolibrary.org/obo/MONDO_0017135	UMLS:CN202542|Orphanet:2732	ordo_malformation_syndrome
MONDO:0019799	biolink:Disease	hepatoerythropoietic porphyria	A very rare form of chronic hepatic porphyria characterized by bullous photodermatitis.	SCTID:111386004|Orphanet:95159|UMLS:C0162569|OMIM:176100|GARD:0006169|NCIT:C84754|DOID:5230|MESH:D017121	mondo.json	hep	http://purl.obolibrary.org/obo/MONDO_0019799	DOID:5230|UMLS:C0162569|Orphanet:95159|http://identifiers.org/snomedct/111386004|http://identifiers.org/mesh/D017121|NCIT:C84754	ordo_disease
MONDO:0017136	biolink:Disease	omodysplasia	Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.	SCTID:725164008|OMIMPS:258315|DOID:0060288|UMLS:C4510897|Orphanet:2733	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017136	Orphanet:2733|http://identifiers.org/snomedct/725164008|DOID:0060288|https://omim.org/phenotypicSeries/PS258315|UMLS:C4510897	ordo_malformation_syndrome
MONDO:0017137	biolink:Disease	onchocerciasis	Onchocerciasis is a form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy.	SCTID:38539003|GARD:0007252|MESH:D009855|UMLS:C0029001|ICD10CM:B73|DOID:11678|EFO:0007402|ICD9:125.3|MedDRA:10039202|MedDRA:10030314|NCIT:C34861|Orphanet:2737	mondo.json	Robles' disease|infection caused by Onchocerca volvulus|River blindness|infection by Onchocerca volvulus|onchocerciasis|volvulosis|Onchocerca volvulus infection|onchocercosis	http://purl.obolibrary.org/obo/MONDO_0017137	Orphanet:2737|http://purl.bioontology.org/ontology/ICD10CM/B73|http://identifiers.org/mesh/D009855|NCIT:C34861|http://identifiers.org/snomedct/38539003|UMLS:C0029001|DOID:11678	ordo_disease|gard_rare
MONDO:0019798	biolink:Disease	obsolete acute hepatic porphyria			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019798		
MONDO:0019793	biolink:Disease	autosomal dominant cerebellar ataxia type III	Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31.	UMLS:CN206746|Orphanet:94148	mondo.json	autosomal dominant cerebellar ataxia type 3|Pure cerebellar syndrome-mild pyramidal signs syndrome|ADCAIII|ADCA3|autosomal dominant cerebellar ataxia type III	http://purl.obolibrary.org/obo/MONDO_0019793	UMLS:CN206746|Orphanet:94148	ordo_group_of_disorders|disease_grouping
MONDO:0017130	biolink:Disease	obsolete genetic urogenital tumor		Orphanet:271844	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017130	Orphanet:271844	disease_grouping|ordo_group_of_disorders
MONDO:0017131	biolink:Disease	genetic cardiac anomaly		Orphanet:271853	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017131	Orphanet:271853	disease_grouping|ordo_group_of_disorders
MONDO:0019792	biolink:Disease	autosomal dominant cerebellar ataxia type I	Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.	UMLS:CN206744|Orphanet:94145	mondo.json	cerebellar plus syndrome|ADCA1|autosomal dominant cerebellar ataxia type 1|ADCAI	http://purl.obolibrary.org/obo/MONDO_0019792	UMLS:CN206744|Orphanet:94145	ordo_group_of_disorders|disease_grouping
MONDO:0019795	biolink:Disease	acalvaria	Acalvaria is a rare malformation defined as missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal.	Orphanet:945|SCTID:203923004|GARD:0000361|UMLS:C2930936|MESH:C535570|OMIM:206500|MESH:D009436	mondo.json	primary acalvaria|Acrania	http://purl.obolibrary.org/obo/MONDO_0019795	Orphanet:945|http://identifiers.org/mesh/C535570|UMLS:C2930936|http://identifiers.org/snomedct/203923004	ordo_malformation_syndrome|gard_rare
MONDO:0017132	biolink:Disease	hereditary ATTR amyloidosis		UMLS:CN227096|Orphanet:271861	mondo.json	hereditary ATTR amyloidosis|familial TTR-related amyloidosis|familial transthyretin-related amyloidosis	http://purl.obolibrary.org/obo/MONDO_0017132	Orphanet:271861|UMLS:CN227096	disease_grouping|ordo_group_of_disorders
MONDO:0019794	biolink:Disease	autosomal dominant cerebellar ataxia type IV		UMLS:CN229225|Orphanet:94149	mondo.json	ADCAIV|autosomal dominant cerebellar ataxia type 4|autosomal dominant cerebellar ataxia type IV|ADCA4	http://purl.obolibrary.org/obo/MONDO_0019794	Orphanet:94149|UMLS:CN229225	disease_grouping|ordo_group_of_disorders
MONDO:0017133	biolink:Disease	obsolete genetic systemic or rheumatologic disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017133		
MONDO:0019780	biolink:Disease	anotia	A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.	MedDRA:10002654|OMIM:600674|SCTID:57436000|ICD9:744.01|Orphanet:93976	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019780	http://identifiers.org/snomedct/57436000|Orphanet:93976	ordo_morphological_anomaly
NCBITaxon:2509487	biolink:OrganismalEntity	Igacovirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2509487		
MONDO:0005159	biolink:Disease	prostate carcinoma	A carcinoma that arises from epithelial cells of the prostate gland.	NCIT:C4863|UMLS:C0600139|KEGG:05215|DOID:10286|EFO:0001663	mondo.json	carcinoma of prostate|carcinoma of the prostate|prostate cancer, NOS|prostate carcinoma|carcinoma of prostate gland|cancer of prostate|cancer of the prostate|prostate cancer|prostate gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0005159	UMLS:C0600139|DOID:10286|NCIT:C4863	
MONDO:0005156	biolink:Disease	encephalomyelitis	Inflammation of the brain and the spinal cord.	EFO:0001423|DOID:640|NCIT:C34580|UMLS:C0014070|ICD9:323.9|MESH:D004679|SCTID:62950007	mondo.json	encephalitis &/or myelitis|inflammation of central nervous system|central nervous system inflammation|encephalitis and/or myelitis	http://purl.obolibrary.org/obo/MONDO_0005156	http://identifiers.org/snomedct/62950007|NCIT:C34580|DOID:640|http://identifiers.org/mesh/D004679|UMLS:C0014070	
MONDO:0020775	biolink:Disease	congenital disorder of glycosylation with defective fucosylation 1		OMIM:618005	mondo.json	Cdgf|CDGF1|CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1	http://purl.obolibrary.org/obo/MONDO_0020775	https://omim.org/entry/618005	
MONDO:0020774	biolink:Disease	Menke-Hennekam syndrome		OMIMPS:618332|Orphanet:592574	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020774	Orphanet:592574|https://omim.org/phenotypicSeries/PS618332	
MONDO:0005155	biolink:Disease	cirrhosis of liver	A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy.	MESH:D008103|UMLS:C0023890|SCTID:19943007|NCIT:C2951|DOID:5082|EFO:0001422|ICD9:571.5	mondo.json	liver cirrhosis|cirrhosis|cirrhosis of liver	http://purl.obolibrary.org/obo/MONDO_0005155	http://identifiers.org/mesh/D008103|NCIT:C2951|http://identifiers.org/snomedct/19943007|UMLS:C0023890|DOID:5082	
MONDO:0020773	biolink:Disease	cerebrospinal fluid rhinorrhea	Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9)	HP:0030998|GTR:AN1355639|ICD9:349.81|SCTID:85638002|MESH:D002559|GTR:AN1353832|UMLS:C0007815|NCIT:C84627	mondo.json	Rhinorrheas, CSF|Rhinorrhea, post-Traumatic, Cerebrospinal Fluid|Cerebrospinal Fluid Rhinorrhea, post-Traumatic|Cerebrospinal Fluid Rhinorrhea|Rhinorrhea, Cerebrospinal Fluid|Rhinorrhea, Cerebrospinal Fluid, Spontaneous|Rhinorrhea, Cerebrospinal Fluid, post-Traumatic|Cerebrospinal fluid rhinorrhoea|Cerebrospinal Fluid Rhinorrhea, post Traumatic|Rhinorrhea, Spontaneous Cerebrospinal Fluid|Cerebrospinal rhinorrhea|Cerebrospinal Rhinorrheas|Cerebrospinal Fluid Rhinorrhea, Spontaneous|Spontaneous Rhinorrhea, Cerebrospinal Fluid|CSF Rhinorrhea|Rhinorrheas, Cerebrospinal Fluid|CSF Rhinorrheas|Cerebrospinal Rhinorrhea|post-Traumatic Rhinorrhea, Cerebrospinal Fluid|post Traumatic Cerebrospinal Fluid Rhinorrhea|CSF - Cerebrospinal rhinorrhea|Rhinorrhea, Cerebrospinal Fluid, Traumatic|Traumatic Cerebrospinal Fluid Rhinorrhea|cerebrospinal rhinorrhea|Cerebrospinal Fluid Rhinorrhea, Traumatic|post Traumatic Rhinorrhea, Cerebrospinal Fluid|Traumatic Rhinorrhea, Cerebrospinal Fluid|Rhinorrhea, Traumatic Cerebrospinal Fluid|Cerebrospinal Fluid Rhinorrheas|post-Traumatic Cerebrospinal Fluid Rhinorrhea|Rhinorrhea, Cerebrospinal|CSF rhinorrhoea|Spontaneous Cerebrospinal Fluid Rhinorrhea|Rhinorrhea, CSF|csf - cerebrospinal rhinorrhea|cerebrospinal fluid rhinorrhea|Rhinorrheas, Cerebrospinal|Cerebrospinal fluid rhinorrhea	http://purl.obolibrary.org/obo/MONDO_0020773	UMLS:C0007815|NCIT:C84627|http://identifiers.org/mesh/D002559|http://identifiers.org/snomedct/85638002	
HGNC:10856	biolink:NamedThing	SI			mondo.json		http://identifiers.org/hgnc/10856		
MONDO:0005158	biolink:Disease	obsolete coronary heart disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005158		
MONDO:0005157	biolink:Disease	lymphoid neoplasm	A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms.	UMLS:C0598798|EFO:0001642|NCIT:C7065|ONCOTREE:LYMPH|ICD9:200.7	mondo.json	lymphoid tumor|lymphoid and plasmacytic tumour|lymphocytic tumor|lymphocytic and plasma cell neoplasm|lymphoid and plasmacytic tumor|lymphocytic and plasmacytic neoplasm|lymphoid and plasma cell tumor|lymphoid and plasmacytic neoplasm|lymphocytic and plasma cell tumour|lymphocytic and plasma cell tumor|lymphoid and plasma cell tumour|lymphocytic neoplasm|lymphoid neoplasm	http://purl.obolibrary.org/obo/MONDO_0005157	UMLS:C0598798|NCIT:C7065	
MONDO:0020772	biolink:Disease	epilepsy, juvenile absence, susceptibility to, 1		DOID:0111324|OMIM:607631	mondo.json	EJA1|JAE1|EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1	http://purl.obolibrary.org/obo/MONDO_0020772	https://omim.org/entry/607631|DOID:0111324	
MONDO:0005152	biolink:Disease	hypopituitarism	A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions.	NCIT:C62591|ICD10CM:E23.0|MESH:D007018|DOID:9406|OMIM:613986|GARD:0002917|OMIM:613038|EFO:0001380|SCTID:74728003|UMLS:C0020635|Orphanet:95494	mondo.json	pituitary hormone deficiency|pituitary hypofunction|pituitary insufficiency	http://purl.obolibrary.org/obo/MONDO_0005152	http://identifiers.org/mesh/D007018|NCIT:C62591|DOID:9406|http://purl.bioontology.org/ontology/ICD10CM/E23.0|http://identifiers.org/snomedct/74728003|UMLS:C0020635	gard_rare
MONDO:0020771	biolink:Disease	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy		OMIMPS:607250	mondo.json	SCAN	http://purl.obolibrary.org/obo/MONDO_0020771	https://omim.org/phenotypicSeries/PS607250	
MONDO:0005151	biolink:Disease	endocrine system disorder	A disease involving the endocrine system.	ICD9:259.9|NCIT:C3009|DOID:28|ICD9:259.8|UMLS:C0014130|SCTID:362969004|MESH:D004700|EFO:0001379	mondo.json	endocrine system disorder|endocrinopathy|endocrine disease|disorder of endocrine system|endocrine system disease or disorder|endocrine disorder|thyroid or other glandular disorders|disease of endocrine system|disease or disorder of endocrine system|endocrine system disease	http://purl.obolibrary.org/obo/MONDO_0005151	http://identifiers.org/snomedct/362969004|NCIT:C3009|DOID:28|http://identifiers.org/mesh/D004700|UMLS:C0014130	harrisons_view
MONDO:0020770	biolink:Disease	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3		OMIM:618387	mondo.json	SCAN3|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3	http://purl.obolibrary.org/obo/MONDO_0020770	https://omim.org/entry/618387	
MONDO:0005154	biolink:Disease	liver disorder	A disease involving the liver.	NCIT:C3196|EFO:0001421|SCTID:235856003|UMLS:C0023895|ICD10CM:K70-K77|ICD9:573.9|DOID:409|ICD9:573.8|MESH:D008107	mondo.json	hepatic disorder|disease of liver|liver disease or disorder|disorder of liver|liver disorder|liver and intrahepatic bile duct disorder|liver disease|hepatic disease|disease or disorder of liver	http://purl.obolibrary.org/obo/MONDO_0005154	http://identifiers.org/mesh/D008107|DOID:409|http://purl.bioontology.org/ontology/ICD10CM/K70-K77|UMLS:C0023895|NCIT:C3196|http://identifiers.org/snomedct/235856003	
MONDO:0029102	biolink:Disease	obsolete autosomal ichthyosis syndrome with other associated signs		Orphanet:281244	mondo.json		http://purl.obolibrary.org/obo/MONDO_0029102	Orphanet:281244	
MONDO:0005153	biolink:Disease	cervical adenocarcinoma	An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type.	ONCOTREE:CEAD|DOID:3702|NCIT:C4029|ICD10CM:C53.0|Orphanet:213772|EFO:0001416|SCTID:254887002	mondo.json	adenocarcinoma - cervix|cervix uteri adenocarcinoma|adenocarcinoma of cervix|adenocarcinoma of the cervix|adenocarcinoma of the uterine cervix|adenocarcinoma cervix uteri|cervix adenocarcinoma|adenocarcinoma of cervix uteri|adenocarcinoma of the cervix uteri|adenocarcinoma of uterine cervix|uterine cervix adenocarcinoma|cervical adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005153	Orphanet:213772|http://identifiers.org/snomedct/254887002|DOID:3702|NCIT:C4029	ordo_disease
MONDO:0005150	biolink:Disease	age-related macular degeneration	Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.	SCTID:267718000|NIFSTD:birnlex_12812|DOID:10871|EFO:0001365|NCIT:C84391|ICD9:362.50|Orphanet:279|OMIMPS:603075|UMLS:C0242383	mondo.json	Senile macular degeneration|macular degeneration, age-related|Senile macular retinal degeneration|AMD|age related maculopathy|ARMD|age-related macular degeneration|age related Maculopathies|age related macular degeneration	http://purl.obolibrary.org/obo/MONDO_0005150	http://identifiers.org/snomedct/267718000|https://omim.org/phenotypicSeries/PS603075|NCIT:C84391|DOID:10871|UMLS:C0242383|Orphanet:279	
MONDO:0020769	biolink:Disease	Menke-Hennekam syndrome 2		OMIM:618333	mondo.json	Menke-Hennekam syndrome 2|MKHK2	http://purl.obolibrary.org/obo/MONDO_0020769	https://omim.org/entry/618333	
MONDO:0017127	biolink:Disease	inherited soft tissue tumor	An instance of mesenchymal cell neoplasm that is caused by an inherited modification of the individual's genome.	UMLS:CN202526|Orphanet:271832	mondo.json	hereditary mesenchymal cell neoplasm|genetic mesenchymal tumor|genetic soft tissue tumor|genetic mesenchymal cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0017127	UMLS:CN202526|Orphanet:271832	disease_grouping|ordo_group_of_disorders
MONDO:0020768	biolink:Disease	X-linked deafness		OMIMPS:304500|GARD:0001715	mondo.json	deafness, X-linked, DFN|X-linked deafness|deafness, X-linked|DFNX	http://purl.obolibrary.org/obo/MONDO_0020768	https://omim.org/phenotypicSeries/PS304500	
MONDO:0020767	biolink:Disease	cauda equina syndrome with neurogenic bladder	A rare neurologic disorder caused by impingement of the nerve roots of the cauda equina secondary to disc herniation, spinal stenosis, vertebral fracture, neoplasm or infection. Clinical signs may include bladder or bowel dysfunction, paresthesia and weakness of the lower extremities. The development of neurogenic bladder implies that surgical decompression was either ineffective, delayed or not attempted.	SCTID:12454008|NCIT:C34453|ICD9:344.61|UMLS:C0007459	mondo.json	cauda equina syndrome with neurogenic bladder|Cauda Equina Syndrome with Neurogenic Bladder|Cauda equina syndrome with neurogenic bladder	http://purl.obolibrary.org/obo/MONDO_0020767	http://identifiers.org/snomedct/12454008|NCIT:C34453|UMLS:C0007459	
MONDO:0019789	biolink:Disease	cytophagic histiocytic panniculitis	Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue.	SCTID:238883003|Orphanet:94087|UMLS:C0406594	mondo.json	CHP|Winkelmann cytophagic panniculitis	http://purl.obolibrary.org/obo/MONDO_0019789	UMLS:C0406594|Orphanet:94087|http://identifiers.org/snomedct/238883003	ordo_disease
MONDO:0017128	biolink:Disease	inherited digestive tract tumor		UMLS:CN202527|Orphanet:271835	mondo.json	genetic digestive tract tumor	http://purl.obolibrary.org/obo/MONDO_0017128	UMLS:CN202527|Orphanet:271835	ordo_group_of_disorders|disease_grouping
MONDO:0017129	biolink:Disease	inherited cardiac tumor	An instance of heart cancer that is caused by a modification of the individual's genome.	UMLS:CN202528|Orphanet:271841	mondo.json	hereditary heart neoplasm|genetic heart tumor|genetic cardiac tumor	http://purl.obolibrary.org/obo/MONDO_0017129	UMLS:CN202528|Orphanet:271841	disease_grouping|ordo_group_of_disorders
MONDO:0020766	biolink:Disease	neuropathy, congenital hypomyelinating, 3		OMIM:618186	mondo.json	NEUROPATHY, CONGENITAL HYPOMYELINATING, 3|CHN3|hypomyelinating neuropathy, congenital, 3	http://purl.obolibrary.org/obo/MONDO_0020766	https://omim.org/entry/618186	
MONDO:0020765	biolink:Disease	neuropathy, congenital hypomyelinating, 2		OMIM:618184	mondo.json	NEUROPATHY, CONGENITAL HYPOMYELINATING, 2|CHN2|hypomyelinating neuropathy, congenital, 2	http://purl.obolibrary.org/obo/MONDO_0020765	https://omim.org/entry/618184	
CHEBI:79020	biolink:ChemicalSubstance	alpha,beta-unsaturated monocarboxylic acid	A monocarboxylic acid in which the carbon of the carboxy group is directly attached to a C=C or C#C bond.		mondo.json	2,3-unsaturated monocarboxylic acids|alpha,beta-unsaturated monocarboxylic acids|2,3-unsaturated monocarboxylic acid	http://purl.obolibrary.org/obo/CHEBI_79020		
MONDO:0017123	biolink:Disease	arthrogryposis-renal dysfunction-cholestasis syndrome	Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.	OMIMPS:208085|Orphanet:2697|SCTID:720513002|DOID:0050763|GARD:0000794|MESH:C535382	mondo.json	arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome|arthrogryposis-renal dysfunction-cholestasis|arthrogryposis - renal dysfunction - cholestasis|arthrogryposis renal dysfunction cholestasis syndrome|arthrogryposis, renal dysfunction, and cholestasis|arthrogryposis multiplex congenita, renal dysfunction, and cholestasis|ARC syndrome	http://purl.obolibrary.org/obo/MONDO_0017123	Orphanet:2697|https://omim.org/phenotypicSeries/PS208085|http://identifiers.org/mesh/C535382|DOID:0050763|http://identifiers.org/snomedct/720513002	ordo_malformation_syndrome
MONDO:0019786	biolink:Disease	severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia	Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14.	Orphanet:94066	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019786	Orphanet:94066	ordo_malformation_syndrome
MONDO:0019785	biolink:Disease	obsolete 15q24 microdeletion syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019785		
MONDO:0017124	biolink:Disease	noma	Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face.	MedDRA:10029502|UMLS:C0028271|Orphanet:2700|ICD9:528.1|NCIT:C34852|EFO:1001063|GARD:0004001|MESH:D009625|SCTID:18116006|DOID:9672	mondo.json	oro-facial gangrene|oral gangrene|noma neonatorum|gangrenous stomatitis|cancrum oris|oro-facial noma	http://purl.obolibrary.org/obo/MONDO_0017124	http://identifiers.org/snomedct/18116006|Orphanet:2700|http://identifiers.org/mesh/D009625|NCIT:C34852|DOID:9672|UMLS:C0028271	ordo_disease|gard_rare
MONDO:0017125	biolink:Disease	obsolete oculofaciocardiodental syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017125		
MONDO:0019788	biolink:Disease	non-secreting paraganglioma	Non-functioning paraganglioma is a rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel Lindau syndrome, may be observed.	Orphanet:94080|SCTID:764999002	mondo.json	non-functioning paraganglioma	http://purl.obolibrary.org/obo/MONDO_0019788	http://identifiers.org/snomedct/764999002|Orphanet:94080	ordo_disease
MONDO:0019787	biolink:Disease	autoimmune enteropathy	Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss.	MESH:C538273|Orphanet:522043|ICD9:279.49|UMLS:C0341305|Orphanet:94075|SCTID:235728001|NCIT:C94694|GARD:0008689	mondo.json	immune-mediated protracted diarrhea of infancy|severe immune-mediated enteropathy	http://purl.obolibrary.org/obo/MONDO_0019787	http://identifiers.org/mesh/C538273|NCIT:C94694|UMLS:C0341305|http://identifiers.org/snomedct/235728001|Orphanet:94075	disease_grouping|ordo_group_of_disorders
MONDO:0017126	biolink:Disease	oculo-skeletal-renal syndrome		UMLS:CN202523|GARD:0004028|Orphanet:2716	mondo.json	oculo skeletal renal syndrome	http://purl.obolibrary.org/obo/MONDO_0017126	UMLS:CN202523|Orphanet:2716	ordo_malformation_syndrome|gard_rare
MONDO:0019782	biolink:Disease	humero-ulnar synostosis		Orphanet:94056	mondo.json	humero-ulnar fusion	http://purl.obolibrary.org/obo/MONDO_0019782	Orphanet:94056	ordo_morphological_anomaly
MONDO:0017120	biolink:Disease	obsolete other syndrome with a central nervous system malformation as major feature		Orphanet:269531|UMLS:CN202470	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017120	Orphanet:269531|UMLS:CN202470	disease_grouping|obsoletion_candidate|ordo_group_of_disorders
MONDO:0019781	biolink:Disease	astrocytoma (excluding glioblastoma)	A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma.	MESH:D001254|SCTID:147101000119108|ONCOTREE:ASTR|ICDO:9400/3|NCIT:C60781|UMLS:C0004114	mondo.json	astrocytoma	http://purl.obolibrary.org/obo/MONDO_0019781	NCIT:C60781|UMLS:C0004114|http://identifiers.org/snomedct/147101000119108|http://identifiers.org/mesh/D001254	
MONDO:0019784	biolink:Disease	12q14 microdeletion syndrome	12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.	SCTID:719046005|UMLS:C4305140|Orphanet:94063|DECIPHER:76|UMLS:CN206727|GARD:0013390	mondo.json	monosomy 12q14|osteopoikilosis-short stature-intellectual disability syndrome|Del(12)(q14)|deletion 12q14	http://purl.obolibrary.org/obo/MONDO_0019784	UMLS:C4305140|http://identifiers.org/snomedct/719046005|Orphanet:94063|UMLS:CN206727	ordo_malformation_syndrome|gard_rare
MONDO:0017121	biolink:Disease	obsolete syndrome with a Dandy-Walker malformation as major feature		Orphanet:269546|UMLS:CN202471	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017121	UMLS:CN202471|Orphanet:269546	ordo_group_of_disorders
MONDO:0019783	biolink:Disease	neovascular glaucoma	Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision.	DOID:1687|UMLS:C0017609|Orphanet:94058|SCTID:232086000|MedDRA:10062891|MESH:D015355|EFO:1001060	mondo.json	secondary angle-closure glaucoma with rubeosis	http://purl.obolibrary.org/obo/MONDO_0019783	Orphanet:94058|http://identifiers.org/snomedct/232086000|DOID:1687|UMLS:C0017609|http://identifiers.org/mesh/D015355	ordo_clinical_situation
MONDO:0017122	biolink:Disease	obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature		UMLS:CN202475|Orphanet:269573	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017122	UMLS:CN202475|Orphanet:269573	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0017192	biolink:Disease	sporadic secreting paraganglioma		Orphanet:276627|UMLS:CN202632	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017192	UMLS:CN202632|Orphanet:276627	ordo_clinical_subtype
MONDO:0017193	biolink:Disease	symptomatic form of Coffin-Lowry syndrome in female carriers		UMLS:CN202633|Orphanet:276630	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017193	UMLS:CN202633|Orphanet:276630	ordo_malformation_syndrome
MONDO:0017194	biolink:Disease	Blount disease	Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs.	ICD9:736.89|SCTID:79353000|MedDRA:10072255|Orphanet:2768|MESH:C536237|GARD:0000916|NCIT:C118460|DOID:14798	mondo.json	Blount's disease|Blount disease|Osteochondrosis deformans tibiae, familial infantile type|tibia vara|infantile tibia vara|Erlacher-Blount syndrome|Osteochondrosis deformans tibiae|Blount-Barber syndrome|tibia vara Blount|familial infantile type osteochondrosis deformans tibiae	http://purl.obolibrary.org/obo/MONDO_0017194	NCIT:C118460|Orphanet:2768|http://identifiers.org/snomedct/79353000|http://identifiers.org/mesh/C536237|DOID:14798	ordo_malformation_syndrome|gard_rare
MONDO:0032748	biolink:Disease	spermatogenic failure 38		OMIM:618433	mondo.json	SPERMATOGENIC FAILURE 38|SPGF38	http://purl.obolibrary.org/obo/MONDO_0032748	https://omim.org/entry/618433	
MONDO:0017195	biolink:Disease	Bruck syndrome	Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures.	ICD9:733.99|SCTID:254113006|UMLS:C0432253|MedDRA:10063718|Orphanet:2771|DOID:0060231	mondo.json	osteogenesis imperfecta-congenital joint contractures syndrome|osteogenesis imperfecta with congenital joint contractures	http://purl.obolibrary.org/obo/MONDO_0017195	http://identifiers.org/snomedct/254113006|Orphanet:2771|UMLS:C0432253|DOID:0060231	ordo_malformation_syndrome
MONDO:0032749	biolink:Disease	hearing loss, autosomal recessive 94		OMIM:618434|DOID:0111641	mondo.json	DFNB94|deafness, autosomal recessive 94	http://purl.obolibrary.org/obo/MONDO_0032749	https://omim.org/entry/618434|DOID:0111641	
MONDO:0032746	biolink:Disease	hydatidiform mole, recurrent, 3		OMIM:618431	mondo.json	HYDATIDIFORM MOLE, RECURRENT, 3|HYDM3	http://purl.obolibrary.org/obo/MONDO_0032746	https://omim.org/entry/618431	
MONDO:0032747	biolink:Disease	hydatidiform mole, recurrent, 4		OMIM:618432	mondo.json	HYDM4|HYDATIDIFORM MOLE, RECURRENT, 4	http://purl.obolibrary.org/obo/MONDO_0032747	https://omim.org/entry/618432	
MONDO:0032744	biolink:Disease	spermatogenic failure 37		OMIM:618429	mondo.json	SPERMATOGENIC FAILURE 37|SPGF37	http://purl.obolibrary.org/obo/MONDO_0032744	https://omim.org/entry/618429	
MONDO:0017190	biolink:Disease	sporadic pheochromocytoma/secreting paraganglioma	Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating.	GARD:0007385|Orphanet:276621|UMLS:CN202630	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017190	UMLS:CN202630|Orphanet:276621	ordo_disease
MONDO:0032745	biolink:Disease	developmental delay with variable intellectual impairment and behavioral abnormalities		OMIM:618430	mondo.json	DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES|developmental delay with variable intellectual impairment and behavioral abnormalities|DDVIBA	http://purl.obolibrary.org/obo/MONDO_0032745	https://omim.org/entry/618430	
MONDO:0017191	biolink:Disease	sporadic pheochromocytoma		Orphanet:276624|UMLS:CN202631	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017191	UMLS:CN202631|Orphanet:276624	ordo_clinical_subtype
HGNC:10825	biolink:NamedThing	SH3BP2			mondo.json		http://identifiers.org/hgnc/10825		
MONDO:0044727	biolink:Disease	pancreatic carcinoma with mixed differentiation	A rare carcinoma with a poor prognosis, characterized by the presence of a mixture of exocrine and neuroendocrine malignant epithelial cells in both the pancreas and metastatic sites. Symptoms include jaundice, abdominal pain, and weight loss.	Orphanet:506112|UMLS:C1709050|NCIT:C45843	mondo.json	mixed neuroendocrine-nonneuroendocrine neoplasm of pancreas|mixed exocrine-endocrine carcinoma of the pancreas|pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm|pancreatic MiNEN|MiNEN of pancreas|pancreatic carcinoma with mixed differentiation	http://purl.obolibrary.org/obo/MONDO_0044727	NCIT:C45843|Orphanet:506112|UMLS:C1709050	ordo_disease
MONDO:0044724	biolink:Disease	3-methylglutaconic aciduria type 9		UMLS:CN510468|DOID:0070002|OMIM:617698|Orphanet:505216	mondo.json	3-METHYLGLUTACONIC aciduria, type IX|3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome|3-Methylglutaconic aciduria, type 9|MGA9|3-methylglutaconic acuduria type IX|3-methylglutaconic acuduria type IX, MGCA9|MGCA9	http://purl.obolibrary.org/obo/MONDO_0044724	https://omim.org/entry/617698|UMLS:CN510468|Orphanet:505216|DOID:0070002	ordo_disease
MONDO:0044723	biolink:Disease	3-methylglutaconic aciduria type 8		UMLS:C4310650|Orphanet:505208|DOID:0070000|OMIM:617248	mondo.json	3-methylglutaconic aciduria, type VIII; MGCA8|MGA8|3-methylglutaconic aciduria type VIII|MGCA8|3-Methylglutaconic aciduria, type 8|3-methylglutaconic aciduria type VIII, MGCA8|3-methylglutaconic aciduria, type VIII	http://purl.obolibrary.org/obo/MONDO_0044723	UMLS:C4310650|https://omim.org/entry/617248|Orphanet:505208|DOID:0070000	ordo_disease
MONDO:0044726	biolink:Disease	psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome		UMLS:CN353477|OMIM:617595|Orphanet:505242	mondo.json	BILAPES|Birk-Landau-Perez syndrome|Cerebrorenal syndrome, Perez type	http://purl.obolibrary.org/obo/MONDO_0044726	https://omim.org/entry/617595|UMLS:CN353477|Orphanet:505242	ordo_disease
MONDO:0044725	biolink:Disease	combined immunodeficiency due to GINS1 deficiency		OMIM:617827|UMLS:CN737162|Orphanet:505227	mondo.json	combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|immunodeficiency 55|IMD55|combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia|CID due to GINS1 deficiency	http://purl.obolibrary.org/obo/MONDO_0044725	UMLS:CN737162|https://omim.org/entry/617827|Orphanet:505227	ordo_disease
MONDO:0032753	biolink:Disease	spastic ataxia 9, autosomal recessive		OMIM:618438	mondo.json	SPAX9|SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE	http://purl.obolibrary.org/obo/MONDO_0032753	https://omim.org/entry/618438	
CHR:9606-chr8q21	biolink:NamedThing	8q21 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr8q21		
MONDO:0032751	biolink:Disease	arthrogryposis, distal, type 2B3		OMIM:618436|DOID:0111602	mondo.json	DA2B3|arthrogryposis, distal, type 2B3|arthrogryposis, distal, type 2B3 (Sheldon-Hall)|distal arthrogryposis type 2B3 (Sheldon-Hall)	http://purl.obolibrary.org/obo/MONDO_0032751	DOID:0111602|https://omim.org/entry/618436	
CHR:9606-chr8q22	biolink:NamedThing	8q22 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr8q22		
MONDO:0032752	biolink:Disease	developmental and epileptic encephalopathy, 75		OMIM:618437	mondo.json	DEE75|EIEE75|epileptic encephalopathy, early infantile, 75|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75|developmental and epileptic encephalopathy 75	http://purl.obolibrary.org/obo/MONDO_0032752	https://omim.org/entry/618437	
MONDO:0017196	biolink:Disease	osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome	Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents.	SCTID:722110003|MESH:C535617|Orphanet:2773|GARD:0000587|UMLS:CN202641	mondo.json	Al Gazali-Nair syndrome|osteogenesis imperfecta retinopathy seizures intellectual deficit|Al Gazali Sabrinathan Nair syndrome	http://purl.obolibrary.org/obo/MONDO_0017196	UMLS:CN202641|Orphanet:2773|http://identifiers.org/snomedct/722110003|http://identifiers.org/mesh/C535617	gard_rare|ordo_malformation_syndrome
MONDO:0032750	biolink:Disease	arthrogryposis, distal, type 2B2		OMIM:618435|DOID:0111601	mondo.json	DA2B2|arthrogryposis, distal, type 2B2	http://purl.obolibrary.org/obo/MONDO_0032750	DOID:0111601|https://omim.org/entry/618435	
MONDO:0017197	biolink:Disease	osteopathia striata-pigmentary dermopathy-white forelock syndrome	Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterised by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.	MESH:C536054|Orphanet:2779|GARD:0005562|UMLS:C2931096	mondo.json	osteopathia striata associated with familial dermopathy and white forelock|Whyte Murphy syndrome|Whyte-Murphy syndrome|osteopathia striata with pigmentary dermopathy including white forelock	http://purl.obolibrary.org/obo/MONDO_0017197	Orphanet:2779|http://identifiers.org/mesh/C536054|UMLS:C2931096	ordo_malformation_syndrome
MONDO:0017198	biolink:Disease	osteopetrosis	Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.	HP:0011002|MedDRA:10031280|GARD:0004155|DOID:13533|ICD9:756.52|SCTID:1926006|NCIT:C26840|MESH:D010022|Orphanet:2781	mondo.json	marble bone|Albers-Schonberg disease|marble bone disease|osteopetrosis|osteopetrosis (disease)|Albers-Schoenberg disease|osteosclerosis fragilis|marble bones|osteopetroses|osteopetrosis and related disorders	http://purl.obolibrary.org/obo/MONDO_0017198	http://identifiers.org/snomedct/1926006|NCIT:C26840|Orphanet:2781|http://identifiers.org/mesh/D010022|DOID:13533	ordo_group_of_disorders|disease_grouping
MONDO:0017199	biolink:Disease	osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome	Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterised by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family.	Orphanet:2787|UMLS:CN202651|SCTID:716189005|UMLS:C4274786	mondo.json	Heide syndrome	http://purl.obolibrary.org/obo/MONDO_0017199	UMLS:C4274786|UMLS:CN202651|Orphanet:2787|http://identifiers.org/snomedct/716189005	ordo_malformation_syndrome
MONDO:0017181	biolink:Disease	hypnic headache	Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes.	Orphanet:276429|GARD:0010796|MESH:D051270|HP:0012459|ICD9:339.81|SCTID:122711000119109	mondo.json	hypnic headache|hypnic headache (disease)	http://purl.obolibrary.org/obo/MONDO_0017181	http://identifiers.org/snomedct/122711000119109|http://identifiers.org/mesh/D051270|Orphanet:276429	ordo_disease
MONDO:0017182	biolink:Disease	familial hyperinsulinism	An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome.	Orphanet:276525|NCIT:C131425	mondo.json	familial hyperinsulinemic hypoglycemia|hyperinsulinemic hypoglycemia|HHI|hereditary hyperinsulinism (disease)|hyperinsulinemia of infancy|FHI|congenital hyperinsulinism|nesidioblastosis|neonatal hyperinsulinism	http://purl.obolibrary.org/obo/MONDO_0017182	Orphanet:276525|NCIT:C131425	disease_grouping|ordo_group_of_disorders
MONDO:0032759	biolink:Disease	intellectual developmental disorder with short stature and variable skeletal anomalies		OMIM:618453	mondo.json	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES|IDDSSA	http://purl.obolibrary.org/obo/MONDO_0032759	https://omim.org/entry/618453	
MONDO:0017183	biolink:Disease	hyperinsulinism due to UCP2 deficiency	HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.	SCTID:721834007|Orphanet:276556|UMLS:C4303082	mondo.json	hyperinsulinemic hypoglycemia due to UCP2 deficiency	http://purl.obolibrary.org/obo/MONDO_0017183	Orphanet:276556|http://identifiers.org/snomedct/721834007|UMLS:C4303082	ordo_disease
MONDO:0017184	biolink:Disease	autosomal dominant hyperinsulinism due to SUR1 deficiency	Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism).	UMLS:CN202625|OMIM:256450|Orphanet:276575|UMLS:C4274080|SCTID:717046003	mondo.json	autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency	http://purl.obolibrary.org/obo/MONDO_0017184	Orphanet:276575|UMLS:C4274080|UMLS:CN202625|http://identifiers.org/snomedct/717046003	ordo_disease
CHR:9606-chr8q24	biolink:NamedThing	8q24 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr8q24		
MONDO:0032757	biolink:Disease	ciliary dyskinesia, primary, 41		OMIM:618449	mondo.json	CILIARY DYSKINESIA, PRIMARY, 41|CILD41	http://purl.obolibrary.org/obo/MONDO_0032757	https://omim.org/entry/618449	
MONDO:0032758	biolink:Disease	neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia		OMIM:618451	mondo.json	NDCAMA|NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA	http://purl.obolibrary.org/obo/MONDO_0032758	https://omim.org/entry/618451	
MONDO:0032755	biolink:Disease	neurodevelopmental disorder with or without variable brain abnormalities; NEDBA		OMIM:618443	mondo.json	NEDBA|NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES	http://purl.obolibrary.org/obo/MONDO_0032755	https://omim.org/entry/618443	
MONDO:0017180	biolink:Disease	10q22.3q23.3 microduplication syndrome		Orphanet:276422|UMLS:CN202619	mondo.json	dup(10)(q22.3q23.3)|trisomy 10q22.3q23.3	http://purl.obolibrary.org/obo/MONDO_0017180	UMLS:CN202619|Orphanet:276422	ordo_malformation_syndrome
MONDO:0032756	biolink:Disease	long qt syndrome 8		OMIM:618447	mondo.json	LQT8|LONG QT SYNDROME 8	http://purl.obolibrary.org/obo/MONDO_0032756	https://omim.org/entry/618447	
GO:0032468	biolink:NamedThing	Golgi calcium ion homeostasis	Any process involved in the maintenance of an internal steady state of calcium ions within the Golgi apparatus of a cell or between the Golgi and its surroundings.		mondo.json	regulation of calcium ion concentration in Golgi|calcium ion homeostasis in Golgi|regulation of Golgi calcium ion concentration|Golgi calcium ion concentration regulation	http://purl.obolibrary.org/obo/GO_0032468		
MONDO:0044742	biolink:Disease	autosomal recessive epidermolytic ichthyosis		Orphanet:512103	mondo.json	AREI	http://purl.obolibrary.org/obo/MONDO_0044742	Orphanet:512103	ordo_disease
MONDO:0044744	biolink:Disease	prekallikrein deficiency	A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease.	SCTID:48976006|NCIT:C99022	mondo.json	prekallikrein deficiency	http://purl.obolibrary.org/obo/MONDO_0044744	NCIT:C99022|http://identifiers.org/snomedct/48976006	
MONDO:0044743	biolink:Disease	major salivary gland cancer	A primary or metastatic malignant neoplasm affecting the major salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma.	UMLS:C0496763|SCTID:363378008|NCIT:C4762	mondo.json	malignant major salivary gland neoplasm|cancer of major salivary gland|malignant tumor of major salivary gland|malignant neoplasm of major salivary glands|malignant tumor of the major salivary gland|malignant neoplasm of major salivary gland|malignant neoplasm of the major salivary gland|malignant major salivary gland tumor	http://purl.obolibrary.org/obo/MONDO_0044743	http://identifiers.org/snomedct/363378008|NCIT:C4762|UMLS:C0496763	
MONDO:0044740	biolink:Disease	salivary gland squamous cell carcinoma	A squamous cell carcinoma arising from the salivary glands. The majority of patients are in their sixth through eight decades. It usually presents as a rapidly enlarging mass, which may be painful. It usually has an aggressive clinical course.	NCIT:C7991|EFO:1001967|Orphanet:500481|UMLS:C0279697	mondo.json	squamous cell carcinoma of salivary gland|squamous cell carcinoma of the salivary gland|SCC of salivary gland|SCC of the salivary gland|salivary gland squamous cell cancer|epidermoid carcinoma of salivary gland|squamous cell carcinoma of salivary glands|salivary gland squamous cell carcinoma|epidermoid carcinoma of the salivary gland|saliva-secreting gland squamous cell carcinoma|salivary gland SCC|salivary gland epidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0044740	Orphanet:500481|NCIT:C7991|UMLS:C0279697	ordo_histopathological_subtype
MONDO:0044739	biolink:Disease	Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome		Orphanet:506784	mondo.json	Stevens-Johnson/TEN overlap syndrome|Stevens-Johnson/toxic epidermal necrolysis overlap syndrome|SJS/TEN overlap syndrome	http://purl.obolibrary.org/obo/MONDO_0044739	Orphanet:506784	ordo_clinical_subtype
MONDO:0044738	biolink:Disease	Gabriele de Vries syndrome		UMLS:C4479652|OMIM:617557|Orphanet:506358	mondo.json	Gabriele-De Vries syndrome|Gabriele-de Vries syndrome|GADEVS|YY1 haploinsufficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0044738	UMLS:C4479652|https://omim.org/entry/617557|Orphanet:506358	ordo_malformation_syndrome
MONDO:0044737	biolink:Disease	autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction		Orphanet:506353	mondo.json	autosomal recessive complex SPG due to Kennedy pathway dysfunction	http://purl.obolibrary.org/obo/MONDO_0044737	Orphanet:506353	ordo_disease
MONDO:0017189	biolink:Disease	adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia	Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide	SCTID:717044000|Orphanet:276608|UMLS:C4274082	mondo.json	NI-PHH	http://purl.obolibrary.org/obo/MONDO_0017189	Orphanet:276608|UMLS:C4274082|http://identifiers.org/snomedct/717044000	ordo_disease
MONDO:0032764	biolink:Disease	Khan-Khan-Katsanis syndrome		OMIM:618460	mondo.json	3K Syndrome|KHAN-KHAN-KATSANIS SYNDROME|3KS	http://purl.obolibrary.org/obo/MONDO_0032764	https://omim.org/entry/618460	
MONDO:0032765	biolink:Disease	bleeding disorder, platelet-type, 22		OMIM:618462	mondo.json	BLEEDING DISORDER, PLATELET-TYPE, 22|BDPLT22	http://purl.obolibrary.org/obo/MONDO_0032765	https://omim.org/entry/618462	
MONDO:0032762	biolink:Disease	hearing loss, autosomal recessive 115		OMIM:618457|DOID:0111643	mondo.json	deafness, autosomal recessive 115|DFNB115	http://purl.obolibrary.org/obo/MONDO_0032762	https://omim.org/entry/618457|DOID:0111643	
MONDO:0032763	biolink:Disease	immunodeficiency 62		OMIM:618459	mondo.json	immunodeficiency 62|IMD62|IMMUNODEFICIENCY 62	http://purl.obolibrary.org/obo/MONDO_0032763	https://omim.org/entry/618459	
MONDO:0017185	biolink:Disease	autosomal dominant hyperinsulinism due to Kir6.2 deficiency	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism).	Orphanet:276580|UMLS:CN202626|UMLS:C4274081|SCTID:717045004	mondo.json	dominant KATP hyperinsulinism due to Kir6.2 deficiency|autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency	http://purl.obolibrary.org/obo/MONDO_0017185	Orphanet:276580|UMLS:C4274081|UMLS:CN202626|http://identifiers.org/snomedct/717045004	ordo_disease
MONDO:0032760	biolink:Disease	developmental delay with or without dysmorphic facies and autism		OMIM:618454	mondo.json	DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM|DEDDFA	http://purl.obolibrary.org/obo/MONDO_0032760	https://omim.org/entry/618454	
MONDO:0032761	biolink:Disease	hearing loss, autosomal recessive 114		OMIM:618456|DOID:0111642	mondo.json	DFNB114|deafness, autosomal recessive 114	http://purl.obolibrary.org/obo/MONDO_0032761	https://omim.org/entry/618456|DOID:0111642	
MONDO:0017186	biolink:Disease	diazoxide-resistant hyperinsulinism	Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism caused by an abnormal insulin production by B-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide.	Orphanet:276585	mondo.json	diazoxide-resistant hyperinsulinemic hypoglycemia	http://purl.obolibrary.org/obo/MONDO_0017186	Orphanet:276585	ordo_group_of_disorders|disease_grouping
NCBITaxon:607660	biolink:OrganismalEntity	Ponginae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_607660		
MONDO:0017187	biolink:Disease	diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency		Orphanet:276598	mondo.json	hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form	http://purl.obolibrary.org/obo/MONDO_0017187	Orphanet:276598	ordo_disease
MONDO:0017188	biolink:Disease	diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency		Orphanet:276603	mondo.json	hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form	http://purl.obolibrary.org/obo/MONDO_0017188	Orphanet:276603	ordo_disease
MONDO:0017170	biolink:Disease	idiopathic recurrent stupor	Idiopathic recurrent stupor is a rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes.	Orphanet:276174|SCTID:763739002|UMLS:CN202595	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017170	UMLS:CN202595|http://identifiers.org/snomedct/763739002|Orphanet:276174	ordo_disease
MONDO:0017171	biolink:Disease	mucopolysaccharidosis type 6, rapidly progressing		UMLS:CN202600|Orphanet:276212	mondo.json	mucopolysaccharidosis type VI, rapidly progressing|MPSVI, rapidly progressing|MPS6, rapidly progressing|arylsulfatase B deficiency, rapidly progressing	http://purl.obolibrary.org/obo/MONDO_0017171	Orphanet:276212|UMLS:CN202600	ordo_clinical_subtype
MONDO:0017172	biolink:Disease	mucopolysaccharidosis type 6, slowly progressing		UMLS:CN202601|Orphanet:276223	mondo.json	arylsulfatase B deficiency, slowly progressing|MPS6, slowly progressing|MPSVI, slowly progressing|mucopolysaccharidosis type VI, slowly progressing	http://purl.obolibrary.org/obo/MONDO_0017172	Orphanet:276223|UMLS:CN202601	ordo_clinical_subtype
HGNC:10809	biolink:NamedThing	SGCG			mondo.json		http://identifiers.org/hgnc/10809		
MONDO:0017173	biolink:Disease	non-syndromic male infertility due to sperm motility disorder	Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present.	UMLS:CN202602|Orphanet:276234	mondo.json	isolated male infertility due to sperm motility disorder|non-syndromic male infertility due asthenozoospermia|nonsyndromic male infertility due to sperm motility disorder	http://purl.obolibrary.org/obo/MONDO_0017173	Orphanet:276234|UMLS:CN202602	ordo_disease
MONDO:0030105	biolink:Disease	galactosemia 4		OMIM:618881|Orphanet:570422	mondo.json	galactosemia iv|Galactose Mutarotase Deficiency|GALACTOSEMIA IV|GALAC4	http://purl.obolibrary.org/obo/MONDO_0030105	https://omim.org/entry/618881|Orphanet:570422	
MONDO:0032768	biolink:Disease	developmental and epileptic encephalopathy, 76		OMIM:618468	mondo.json	Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination|DEE76|EIEE76|developmental and epileptic encephalopathy 76|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76|epileptic encephalopathy, early infantile, 76	http://purl.obolibrary.org/obo/MONDO_0032768	https://omim.org/entry/618468	
MONDO:0032766	biolink:Disease	hypoalphalipoproteinemia, primary, 2		OMIM:618463	mondo.json	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2|High Density Lipoprotein Deficiency|Apolipoprotein A-I Deficiency|hypoalphalipoproteinemia, primary, 2, with or without corneal clouding|ApoA-I and apoC-III deficiency, combined	http://purl.obolibrary.org/obo/MONDO_0032766	https://omim.org/entry/618463	
MONDO:0032767	biolink:Disease	paragangliomas 6		OMIM:618464	mondo.json	PARAGANGLIOMAS 6|PGL6	http://purl.obolibrary.org/obo/MONDO_0032767	https://omim.org/entry/618464	
MONDO:0044753	biolink:Disease	lumbar spinal stenosis	A spinal stenosis that involves the lumbar region of vertebral column.	SCTID:18347007|HP:0004610|ICD9:724.02|UMLS:C0158288	mondo.json	lumbar spinal stenosis|lumbar region of vertebral column spinal stenosis|spinal stenosis of lumbar region|spinal stenosis of lumbar region of vertebral column	http://purl.obolibrary.org/obo/MONDO_0044753	http://identifiers.org/snomedct/18347007|UMLS:C0158288	
MONDO:0005189	biolink:Disease	internal carotid artery stenosis	Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta.	SCTID:233964008|ICD9:433.10|EFO:0002615|Wikipedia:Carotid_artery_stenosis	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005189	http://identifiers.org/snomedct/233964008	
MONDO:0005188	biolink:Disease	iatrogenic Kaposi's sarcoma	A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment.	NCIT:C35873|UMLS:C1334149|EFO:0002613	mondo.json	iatrogenic Kaposi sarcoma|iatrogenic Kaposi's sarcoma	http://purl.obolibrary.org/obo/MONDO_0005188	UMLS:C1334149|NCIT:C35873	
GO:0007499	biolink:NamedThing	ectoderm and mesoderm interaction	A cell-cell signaling process occurring between the two gastrulation-generated layers of the ectoderm and the mesoderm.		mondo.json	ectoderm/mesoderm interaction	http://purl.obolibrary.org/obo/GO_0007499		
GO:0007498	biolink:NamedThing	mesoderm development	The process whose specific outcome is the progression of the mesoderm over time, from its formation to the mature structure. The mesoderm is the middle germ layer that develops into muscle, bone, cartilage, blood and connective tissue.		mondo.json		http://purl.obolibrary.org/obo/GO_0007498		
HGNC:10801	biolink:NamedThing	SFTPB			mondo.json		http://identifiers.org/hgnc/10801		
HGNC:10802	biolink:NamedThing	SFTPC			mondo.json		http://identifiers.org/hgnc/10802		
MONDO:0005185	biolink:Disease	chronic childhood arthritis	An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system.	EFO:0002609|SCTID:410793008|DOID:6776|Wikipedia:Juvenile_idiopathic_arthritis|DOID:676|NCIT:C27179	mondo.json	Juvenile rheumatoid arthritis (AQ)|JRA|Juvenile rheumatoid arthritis	http://purl.obolibrary.org/obo/MONDO_0005185	NCIT:C27179|http://identifiers.org/snomedct/410793008	
HGNC:10807	biolink:NamedThing	SGCD			mondo.json		http://identifiers.org/hgnc/10807		
MONDO:0005184	biolink:Disease	pancreatic ductal adenocarcinoma	An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor.	DOID:3587|ICD9:157.3|DOID:3498|NCIT:C9120|EFO:0002517|UMLS:C0887833|MESH:D021441|UMLS:C1335302	mondo.json	malignant neoplasm of duct of Wirsung|pancreatic tubular adenocarcinoma|pancreatic ductal adenocarcinoma|pancreatic ductal carcinoma|ductal adenocarcinoma of pancreas|pancreatic duct adenocarcinoma|ductal adenocarcinoma of the pancreas|pancreatic duct cancer|pancreas ductal adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005184	UMLS:C1335302|http://identifiers.org/mesh/D021441|UMLS:C0887833|NCIT:C9120|DOID:3587|DOID:3498	
CHEBI:67079	biolink:ChemicalSubstance	anti-inflammatory agent	Any compound that has anti-inflammatory effects.		mondo.json	anti-inflammatory agents|antiinflammatory agent|antiinflammatory agents	http://purl.obolibrary.org/obo/CHEBI_67079		
HGNC:10808	biolink:NamedThing	SGCE			mondo.json		http://identifiers.org/hgnc/10808		
HGNC:10805	biolink:NamedThing	SGCA			mondo.json		http://identifiers.org/hgnc/10805		
MONDO:0005187	biolink:Disease	human herpesvirus 8 infection	An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma.	NCIT:C39291|EFO:0002612|UMLS:C1512508	mondo.json	HHV8 infection|Human Herpes Virus 8 infection|Human Herpesvirus 8 infection	http://purl.obolibrary.org/obo/MONDO_0005187	NCIT:C39291|UMLS:C1512508	
MONDO:0044751	biolink:Disease	chronic diarrheal disease	Chronic form of diarrheal disease.	UMLS:C0401151|SCTID:236071009	mondo.json	diarrheal disease, chronic|chronic diarrhea	http://purl.obolibrary.org/obo/MONDO_0044751	UMLS:C0401151|http://identifiers.org/snomedct/236071009	
HGNC:10806	biolink:NamedThing	SGCB			mondo.json		http://identifiers.org/hgnc/10806		
MONDO:0005186	biolink:Disease	cocaine dependence	A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance.	SCTID:31956009|ICD9:304.2|NCIT:C34492|ICD9:304.20|DOID:9975|EFO:0002610	mondo.json	cocaine addiction	http://purl.obolibrary.org/obo/MONDO_0005186	http://identifiers.org/snomedct/31956009|DOID:9975|NCIT:C34492	
MONDO:0044750	biolink:Disease	lassa virus infectious disease		UMLS:C1617072|SCTID:721779001	mondo.json	Lassa virus infection|infection caused by Lassa virus	http://purl.obolibrary.org/obo/MONDO_0044750	UMLS:C1617072|http://identifiers.org/snomedct/721779001	
MONDO:0005181	biolink:Disease	progressive external ophthalmoplegia	A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)	EFO:0002509|ICD10CM:H49.4|ICD9:378.72|HP:0000590|MESH:D017246|GARD:0004503|Orphanet:520820|SCTID:46252003|DOID:12558	mondo.json	progressive external ophthalmoplegia|chronic progressive external ophthalmoplegia [ambiguous]|chronic progressive external ophthalmoplegia	http://purl.obolibrary.org/obo/MONDO_0005181	DOID:12558|http://purl.bioontology.org/ontology/ICD10CM/H49.4|http://identifiers.org/mesh/D017246|http://identifiers.org/snomedct/46252003|Orphanet:520820	ordo_group_of_disorders|disease_grouping
MONDO:0005180	biolink:Disease	Parkinson disease	A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression.	ICD9:332.0|NIFSTD:birnlex_2098|OMIMPS:168600|KEGG:05012|ICD9:332|NCIT:C26845|DOID:14330|EFO:0002508|SCTID:49049000|MESH:D010300|Orphanet:319705|UMLS:C0030567	mondo.json	Parkinson's disease|Parkinson disease|paralysis agitans	http://purl.obolibrary.org/obo/MONDO_0005180	https://omim.org/phenotypicSeries/PS168600|NCIT:C26845|Orphanet:319705|http://identifiers.org/snomedct/49049000|UMLS:C0030567|DOID:14330|http://identifiers.org/mesh/D010300	
MONDO:0044749	biolink:Disease	X-linked congenital stationary night blindness	X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause.	UMLS:CN043584|GARD:0003995|Orphanet:215	mondo.json	congenital stationary night blindness, X-linked|XLCSNB|X-linked CSNB	http://purl.obolibrary.org/obo/MONDO_0044749	UMLS:CN043584	gard_rare
MONDO:0005183	biolink:Disease	ovarian cystadenoma	A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells.	SCTID:198297004|DOID:3269|ICD9:620.2|UMLS:C0346169|EFO:0002511|NCIT:C4060	mondo.json	simple cystoma of ovary|cystadenoma of the ovary|cystadenoma of ovary|benign cystadenoma of the ovary|benign ovarian cystadenoma|benign cystadenoma of ovary|ovary cystadenoma|ovarian cystadenoma|cystoma serosum simplex|simple ovarian cystoma|simple cystoma of the ovary	http://purl.obolibrary.org/obo/MONDO_0005183	NCIT:C4060|UMLS:C0346169|http://identifiers.org/snomedct/198297004|DOID:3269	
MONDO:0005182	biolink:Disease	serous cystadenofibroma	A benign neoplasm characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. Most commonly the primary site is the ovary, but serous cystadenofibromas can occur in the pancreas as well.	DOID:7320|EFO:0002510|NCIT:C40032	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005182		
MONDO:0044746	biolink:Disease	zoonotic bacterial infection	A bacterial infection that is transmitted from animals to people.	NCIT:C35373|ICD10CM:A20-A28|UMLS:C0311376	mondo.json	Bacteria caused zoonoses|zoonotic bacterial infection|zoonotic bacterial disease|Bacteria zoonoses	http://purl.obolibrary.org/obo/MONDO_0044746	UMLS:C0311376|http://purl.bioontology.org/ontology/ICD10CM/A20-A28|NCIT:C35373	
MONDO:0044745	biolink:Disease	nervous system injury	Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures.	SCTID:128239009|MESH:D020196	mondo.json	craniocervical injury|nervous system Traumas|nervous system trauma|injury, nervous system|nervous system injury|injury, craniocervical|craniocervical Injuries|nervous system Injuries|injury of nervous system|Injuries, craniocervical|Injuries, nervous system	http://purl.obolibrary.org/obo/MONDO_0044745	http://identifiers.org/mesh/D020196|http://identifiers.org/snomedct/128239009	
GO:0044403	biolink:NamedThing	biological process involved in symbiotic interaction	A process carried out by gene products in an organism that enable the organism to engage in a symbiotic relationship, a more or less intimate association, with another organism. The various forms of symbiosis include parasitism, in which the association is disadvantageous or destructive to one of the organisms; mutualism, in which the association is advantageous, or often necessary to one or both and not harmful to either; and commensalism, in which one member of the association benefits while the other is not affected. However, mutualism, parasitism, and commensalism are often not discrete categories of interactions and should rather be perceived as a continuum of interaction ranging from parasitism to mutualism. In fact, the direction of a symbiotic interaction can change during the lifetime of the symbionts due to developmental changes as well as changes in the biotic/abiotic environment in which the interaction occurs. Microscopic symbionts are often referred to as endosymbionts.		mondo.json	symbiosis|symbiotic process|symbiotic interaction between host and organism|symbiosis, encompassing mutualism through parasitism|symbiotic interaction between organisms|host-pathogen interaction|commensalism|symbiotic interaction between species|parasitism|symbiotic interaction	http://purl.obolibrary.org/obo/GO_0044403		
MONDO:0044748	biolink:Disease	anaplasmosis in cattle	A disease of cattle caused by parasitization of the red blood cells by bacteria of the genus ANAPLASMA.	MESH:D000712	mondo.json	Anaplasmoses	http://purl.obolibrary.org/obo/MONDO_0044748	http://identifiers.org/mesh/D000712	
MONDO:0044747	biolink:Disease	human anaplasmosis	An infection that is caused by Anaplasma phagocytophilum, which is transmitted to humans by infected ticks; it is characterized by fever, headache, chills, and myalgia.	SCTID:427481004|ICD9:082.49|NCIT:C128425	mondo.json	human anaplasmosis|anaplasmosis|anaplasmoses	http://purl.obolibrary.org/obo/MONDO_0044747	NCIT:C128425|http://identifiers.org/snomedct/427481004	
MONDO:0017178	biolink:Disease	osteochondritis dissecans	A rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.	ICD9:732.7|GARD:0004133|DOID:84|UMLS:C0029421|NCIT:C34878|MESH:D010008|SCTID:82562007|GARD:0012703|OMIM:165800|Orphanet:251262|MedDRA:10031231|Orphanet:2764|HP:0010886	mondo.json	osteochondritis dissecans|SSOAOD|osteochondritis dissecans (disease)|OD|osteochondritis DISSECANS, short stature, and early-onset osteoarthritis|OCD|König disease|short stature and advanced bone Age, with or without early-onset osteoarthritis and/Or osteochondritis Dissecans|osteochondritis dissecans and short stature|Koenig disease|familial osteochondritis dissecans|Konig disease	http://purl.obolibrary.org/obo/MONDO_0017178	http://identifiers.org/mesh/D010008|UMLS:C0029421|DOID:84|http://identifiers.org/snomedct/82562007|Orphanet:2764|NCIT:C34878	ordo_disease
MONDO:0032775	biolink:Disease	neurodevelopmental disorder with seizures and speech and walking impairment		OMIM:618480	mondo.json	NEDSSWI|NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT	http://purl.obolibrary.org/obo/MONDO_0032775	https://omim.org/entry/618480	
MONDO:0032776	biolink:Disease	hearing loss, autosomal recessive 99		DOID:0111634|OMIM:618481	mondo.json	DFNB99|deafness, autosomal recessive 99	http://purl.obolibrary.org/obo/MONDO_0032776	https://omim.org/entry/618481|DOID:0111634	
MONDO:0017179	biolink:Disease	limbic encephalitis with caspr2 antibodies	Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia.	SCTID:763793004|Orphanet:276402	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017179	Orphanet:276402|http://identifiers.org/snomedct/763793004	ordo_disease
MONDO:0032773	biolink:Disease	uridine-cytidineuria		OMIM:618477	mondo.json	URCTU|uridine-cytidineuria|URIDINE-CYTIDINEURIA	http://purl.obolibrary.org/obo/MONDO_0032773	https://omim.org/entry/618477	
MONDO:0032774	biolink:Disease	cerebellar, ocular, craniofacial, and genital syndrome		OMIM:618479	mondo.json	COFG|CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME	http://purl.obolibrary.org/obo/MONDO_0032774	https://omim.org/entry/618479	
MONDO:0017174	biolink:Disease	Machado-Joseph disease type 1	Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs.	SCTID:91953003|Orphanet:276238	mondo.json	azorean disease, type i|spinocerebellar ataxia type 3, Joseph type|SCA3, Joseph type	http://purl.obolibrary.org/obo/MONDO_0017174	Orphanet:276238|http://identifiers.org/snomedct/91953003	ordo_clinical_subtype
MONDO:0032771	biolink:Disease	paragangliomas 7		OMIM:618475	mondo.json	PARAGANGLIOMAS 7|PGL7	http://purl.obolibrary.org/obo/MONDO_0032771	https://omim.org/entry/618475	
MONDO:0017175	biolink:Disease	Machado-Joseph disease type 2	Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.	Orphanet:276241|SCTID:91954009	mondo.json	spinocerebellar ataxia, Thomas type|SCA3, Thomas type|azorean disease, type ii	http://purl.obolibrary.org/obo/MONDO_0017175	Orphanet:276241|http://identifiers.org/snomedct/91954009	ordo_clinical_subtype
MONDO:0032772	biolink:Disease	brain abnormalities, neurodegeneration, and dysosteosclerosis		OMIM:618476	mondo.json	BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS|BANDDOS	http://purl.obolibrary.org/obo/MONDO_0032772	https://omim.org/entry/618476	
MONDO:0017176	biolink:Disease	Machado-Joseph disease type 3	Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.	SCTID:91955005|Orphanet:276244	mondo.json	SCA3, Machado type|spinocerebellar ataxia type 3, Machado type|azorean disease, type iii	http://purl.obolibrary.org/obo/MONDO_0017176	Orphanet:276244|http://identifiers.org/snomedct/91955005	ordo_clinical_subtype
MONDO:0032770	biolink:Disease	intellectual developmental disorder with severe speech and ambulation defects	Any BAFopathy in which the cause of the disease is a mutation in the ACTL6B gene.	OMIM:618470	mondo.json	IDDSSAD|ACTL6B-related BAFopathy|INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS	http://purl.obolibrary.org/obo/MONDO_0032770	https://omim.org/entry/618470	
MONDO:0017177	biolink:Disease	hemihyperplasia-multiple lipomatosis syndrome	A rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.	Orphanet:276280|UMLS:CN202613	mondo.json	HHML	http://purl.obolibrary.org/obo/MONDO_0017177	Orphanet:276280|UMLS:CN202613	ordo_malformation_syndrome
MONDO:0017160	biolink:Disease	behavioral variant of frontotemporal dementia	Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.	Orphanet:275864|SCTID:716994006|UMLS:C4011788	mondo.json	bv-FTD	http://purl.obolibrary.org/obo/MONDO_0017160	UMLS:C4011788|Orphanet:275864|http://identifiers.org/snomedct/716994006	ordo_disease
MONDO:0017161	biolink:Disease	frontotemporal dementia with motor neuron disease	Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset.	OMIMPS:105550|UMLS:CN239493|Orphanet:275872|MESH:C566288	mondo.json	frontotemporal dementia with ALS|FTD-MND|frontotemporal dementia with amyotrophic lateral sclerosis|FTDALS|FTD-ALS	http://purl.obolibrary.org/obo/MONDO_0017161	Orphanet:275872|UMLS:CN239493|http://identifiers.org/mesh/C566288|https://omim.org/phenotypicSeries/PS105550	ordo_disease
MONDO:0017162	biolink:Disease	imperforate oropharynx-costo vetebral anomalies syndrome	Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.	UMLS:CN202584|Orphanet:2759|GARD:0002989	mondo.json	Seghers syndrome|imperforate oropharynx-costovertebral anomalies syndrome|imperforate oropharynx-costo vetebral anomalies	http://purl.obolibrary.org/obo/MONDO_0017162	UMLS:CN202584|Orphanet:2759	ordo_malformation_syndrome
MONDO:0030116	biolink:Disease	silver-russell syndrome 2		OMIM:618905	mondo.json	silver-russell syndrome 2|SILVER-RUSSELL SYNDROME 2|Uniparental Disomy, Maternal, Chromosome 7|SRS2	http://purl.obolibrary.org/obo/MONDO_0030116	https://omim.org/entry/618905	
MONDO:0032779	biolink:Disease	neurodevelopmental disorder with microcephaly and structural brain anomalies		OMIM:618492	mondo.json	NEDMIBA|NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES	http://purl.obolibrary.org/obo/MONDO_0032779	https://omim.org/entry/618492	
MONDO:0030118	biolink:Disease	silver-russell syndrome 4		OMIM:618907	mondo.json	silver-russell syndrome 4|SILVER-RUSSELL SYNDROME 4|SRS4	http://purl.obolibrary.org/obo/MONDO_0030118	https://omim.org/entry/618907	
MONDO:0032777	biolink:Disease	generalized epilepsy with febrile seizures plus, type 10		DOID:0111296|OMIM:618482	mondo.json	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10|Gefs+, Type 10|GEFSP10	http://purl.obolibrary.org/obo/MONDO_0032777	https://omim.org/entry/618482|DOID:0111296	
MONDO:0032778	biolink:Disease	arthrogryposis multiplex congenita 3, myogenic type		OMIM:618484	mondo.json	AMCM|arthrogryposis multiplex congenita, myogenic type	http://purl.obolibrary.org/obo/MONDO_0032778	https://omim.org/entry/618484	
MONDO:0044764	biolink:Disease	benign choroid plexus neoplasm		UMLS:C0346290|NCIT:C8405|SCTID:254943007	mondo.json	benign choroid plexus neoplasms|benign choroid plexus neoplasm|benign choroid plexus tumors|benign tumor of choroid plexus|benign tumor of the choroid plexus|benign neoplasm of choroid plexus|benign choroid plexus tumor|benign neoplasm of the choroid plexus	http://purl.obolibrary.org/obo/MONDO_0044764	UMLS:C0346290|http://identifiers.org/snomedct/254943007|NCIT:C8405	
MONDO:0029145	biolink:Disease	orofacial cleft 8		OMIM:618149|DOID:0080401	mondo.json	OROFACIAL CLEFT 8|OFC8|Cleft 51P With or Without Cleft Palate, Nonsyndromic, 8	http://purl.obolibrary.org/obo/MONDO_0029145	https://omim.org/entry/618149|DOID:0080401	
MONDO:0029144	biolink:Disease	extraoral halitosis due to methanethiol oxidase deficiency		OMIM:618148	mondo.json	EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY|MTO Deficiency|extraoral halitosis due to MTO deficiency|EHMTO|extraoral halitosis with dimethylsulfoxiduria|METHANETHIOL Oxidase Deficiency	http://purl.obolibrary.org/obo/MONDO_0029144	https://omim.org/entry/618148	
MONDO:0044763	biolink:Disease	diarrheal disease secondary to decreased bowel motility	A diarrhea that results from decreased motility in the bowel; the resultant bowel stasis encourages bacterial overgrowth and subsequent bile salt deconjugation. Diarrhea is then the direct result of fat malabsorption and increased colonic secretion.		mondo.json	diarrhea from decreased bowel motility	http://purl.obolibrary.org/obo/MONDO_0044763		
MONDO:0005199	biolink:Disease	obsolete peripartum cardiomyopathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005199		
MONDO:0044766	biolink:Disease	obsolete Marfan Syndrome 3		GTR:AN0100578|GTR:AN0100577|UMLS:CN035813	mondo.json	Marfan syndrome type 3|MFS 3	http://purl.obolibrary.org/obo/MONDO_0044766	UMLS:CN035813	
MONDO:0029143	biolink:Disease	intellectual developmental disorder with hypertelorism and distinctive facies		OMIM:618147	mondo.json	INTELLECTUAL DEVELOPMENTAL disorder WITH HYPERTELORISM AND DISTINCTIVE FACIES|chromosome 14q32 deletion syndrome|IDDHDF	http://purl.obolibrary.org/obo/MONDO_0029143	https://omim.org/entry/618147	
MONDO:0029142	biolink:Disease	hearing loss, autosomal recessive 111		OMIM:618145|DOID:0111640	mondo.json	deafness, autosomal recessive 111|DFNB111	http://purl.obolibrary.org/obo/MONDO_0029142	DOID:0111640|https://omim.org/entry/618145	
MONDO:0044765	biolink:Disease	steroid-resistant nephrotic syndrome	Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids.	UMLS:CN034406|SCTID:236381000|NCIT:C122798|GTR:AN0096395|GTR:AN0200342|GTR:AN0255485|GTR:AN0096391	mondo.json	steroid-unresponsive nephrotic syndrome|nephrotic syndrome of childhood - steroid resistant|nephrotic syndrome, steroid-resistant, autosomal recessive|steroid-resistant nephrotic syndrome|NPHS2|nephrotic syndrome-steroid-resistant|nephrotic syndrome, idiopathic, steroid-resistant|SRNS - steroid-resistant nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0044765	http://identifiers.org/snomedct/236381000|UMLS:CN034406|NCIT:C122798	
MONDO:0005196	biolink:Disease	obsolete teratozoospermia	OBSOLETE. Presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends	UMLS:C0403824|EFO:0002625|SCTID:236817003|MP:0005578	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005196	UMLS:C0403824|http://identifiers.org/snomedct/236817003	
HGNC:10818	biolink:NamedThing	SGSH			mondo.json		http://identifiers.org/hgnc/10818		
MONDO:0005195	biolink:Disease	septic peritonitis	Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis.	Wikipedia:Septic_peritonitis|EFO:0002623|PMID:22911262	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005195		
MONDO:0029148	biolink:Disease	spermatogenic failure 34		OMIM:618153	mondo.json	SPGF34|SPERMATOGENIC FAILURE 34	http://purl.obolibrary.org/obo/MONDO_0029148	https://omim.org/entry/618153	
MONDO:0005198	biolink:Disease	vulvar intraepithelial neoplasia	Intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar high grade squamous intraepithelial lesion and vulvar intraepithelial neoplasia, differentiated type.	Orphanet:137583|EFO:0002627|NCIT:C4756|UMLS:C0346210	mondo.json	squamous vulvar intraepithelial neoplasia|vulvar intraepithelial tumor|vulva intraepithelial neoplasia|VIN|vulval intraepithelial neoplasia|intraepithelial neoplasia of the vulva|intraepithelial neoplasia of vulva	http://purl.obolibrary.org/obo/MONDO_0005198	UMLS:C0346210|NCIT:C4756|Orphanet:137583	ordo_disease
MONDO:0044762	biolink:Disease	diarrheal disease secondary to increased bowel motility	A diarrhea that results from increased motility in the bowel; significant increases in bowel motility can deliver excessively large volumes of stool to the colon. Diarrhea can result when the maximum colonic absorptive capacity of 4 liters a day is exceeded. Also, an alteration in colonic motility such that bowel contents are emptied before adequate absorption can occur has been offered as a possible explanation for the diarrhea associated with irritable bowel disease.	DOID:0050131	mondo.json	motility-related diarrhea|diarrhea from increased bowel motility	http://purl.obolibrary.org/obo/MONDO_0044762	DOID:0050131	
MONDO:0029147	biolink:Disease	spermatogenic failure 33		OMIM:618152	mondo.json	SPGF33|SPERMATOGENIC FAILURE 33	http://purl.obolibrary.org/obo/MONDO_0029147	https://omim.org/entry/618152	
HGNC:10817	biolink:NamedThing	SGPL1			mondo.json		http://identifiers.org/hgnc/10817		
MONDO:0005197	biolink:Disease	thymus neoplasm	A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma.	ICD9:239.89|EFO:0002626|NCIT:C3412|ONCOTREE:THYMUS|UMLS:C3714644|SCTID:127231009|Orphanet:100100	mondo.json	Thymus tumor|thymic neoplasm|neoplasm of the Thymus|thymus neoplasm (disease)|Thymus neoplasm|neoplasm of thymus|thymus tumor|tumor of Thymus|tumor of the Thymus|THYMUS|thymic tumor|tumor of thymus|neoplasm of Thymus	http://purl.obolibrary.org/obo/MONDO_0005197	Orphanet:100100|NCIT:C3412|http://identifiers.org/snomedct/127231009|UMLS:C3714644	ordo_group_of_disorders|disease_grouping
MONDO:0029146	biolink:Disease	obsolete Saul-Wilson syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0029146		
MONDO:0005192	biolink:Disease	exocrine pancreatic carcinoma	A carcinoma that arises from epithelial cells of the exocrine pancreas	SCTID:372142002|DOID:4905|EFO:0002618|UMLS:C0235974|NCIT:C3850	mondo.json	pancreatic cancer|exocrine pancreas carcinoma|carcinoma of pancreas|pancreas carcinoma|pancreas cancer|pancreatic carcinoma, familial|cancer of pancreas|pancreatic cancer (not islets)|cancer of the pancreas|exocrine cancer|pancreatic carcinoma|carcinoma of the pancreas|carcinoma of exocrine pancreas	http://purl.obolibrary.org/obo/MONDO_0005192	NCIT:C3850|http://identifiers.org/snomedct/372142002|DOID:4905|UMLS:C0235974	
MONDO:0005191	biolink:Disease	metastatic melanoma	A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.	EFO:0002617|SCTID:443493003|NCIT:C8925|UMLS:C0278883	mondo.json	metastatic melanoma|metastatic malignant melanoma	http://purl.obolibrary.org/obo/MONDO_0005191	UMLS:C0278883|http://identifiers.org/snomedct/443493003|NCIT:C8925	
MONDO:0005194	biolink:Disease	Rotavirus infection	Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice.	MESH:D012400|SCTID:18624000|EFO:0002622|ICD9:078.89|UMLS:C0035869	mondo.json	Rotavirus infectious disease|Rotavirus caused disease or disorder|Rotavirus disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005194	UMLS:C0035869|http://identifiers.org/mesh/D012400|http://identifiers.org/snomedct/18624000	
MONDO:0005193	biolink:Disease	prostate intraepithelial neoplasia	A neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland. The neoplastic epithelial cells are confined within the acini and the ducts and they do not invade the surrounding prostatic stroma. Morphologically, it is classified as low or high grade.	UMLS:C0282612|MP:0009219|MESH:D019048|NCIT:C4064|EFO:0002621|SCTID:254901000	mondo.json	prostate intraepithelial neoplasia (pin)|pin|pin - prostatic intraepithelial neoplasia|prostatic intraepithelial neoplasia|prostate intraepithelial neopl.	http://purl.obolibrary.org/obo/MONDO_0005193	NCIT:C4064|http://identifiers.org/snomedct/254901000|UMLS:C0282612|http://identifiers.org/mesh/D019048	
GO:0044419	biolink:NamedThing	biological process involved in interspecies interaction between organisms	Any process evolved to enable an interaction with an organism of a different species.		mondo.json	interspecies interaction with other organisms|interaction with another species|interspecies interaction|interspecies interaction between organisms	http://purl.obolibrary.org/obo/GO_0044419		
MONDO:0029141	biolink:Disease	Usher syndrome, type 4		OMIM:618144	mondo.json	Usher syndrome, type IV|USH4	http://purl.obolibrary.org/obo/MONDO_0029141	https://omim.org/entry/618144	
MONDO:0029140	biolink:Disease	glycosylphosphatidylinositol biosynthesis defect 18		OMIM:618143	mondo.json	glycosylphosphatidylinositol biosynthesis defect 18|GPIBD18|developmental and epileptic encephalopathy 95	http://purl.obolibrary.org/obo/MONDO_0029140	https://omim.org/entry/618143	
MONDO:0005190	biolink:Disease	macroglobulinemia	Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life.	EFO:0002616|MESH:D008258|ICD9:273.3|NCIT:C3212|UMLS:C0024419|SCTID:190817009|Wikipedia:Macroglobulinemia|ICD10CM:C88.0|NCIT:C80307|DOID:9080	mondo.json	primary macroglobulinemia	http://purl.obolibrary.org/obo/MONDO_0005190	http://identifiers.org/snomedct/190817009|DOID:9080	
HGNC:10820	biolink:NamedThing	SH2D1A			mondo.json		http://identifiers.org/hgnc/10820		
MONDO:0017167	biolink:Disease	malignant epithelial tumor of salivary glands		Orphanet:276145|UMLS:CN202591	mondo.json	malignant epithelial tumor of the salivary glands	http://purl.obolibrary.org/obo/MONDO_0017167	Orphanet:276145|UMLS:CN202591	ordo_disease
MONDO:0032786	biolink:Disease	Noonan syndrome 11		OMIM:618499	mondo.json	NOONAN SYNDROME 11|NS11	http://purl.obolibrary.org/obo/MONDO_0032786	https://omim.org/entry/618499	
MONDO:0032787	biolink:Disease	holoprosencephaly 12 with or without pancreatic agenesis		OMIM:618500	mondo.json	HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS|holoprosencephaly 12, with or without pancreatic agenesis|HPE12	http://purl.obolibrary.org/obo/MONDO_0032787	https://omim.org/entry/618500	
MONDO:0017168	biolink:Disease	benign epithelial tumor of salivary glands		ICD10CM:D11.0|UMLS:CN202592|Orphanet:276148	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017168	Orphanet:276148|UMLS:CN202592	ordo_disease
MONDO:0017169	biolink:Disease	multiple endocrine neoplasia	Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs.	NCIT:C6432|ICD9:258.0|MESH:D009377|Orphanet:276161|ICDO:8360/1|UMLS:C0027662|SCTID:46724008|MedDRA:10061299|OMIMPS:131100	mondo.json	multiple endocrine adenomatosis|men|men syndrome|multiple endocrine neoplasia|multiple endocrine neoplasia syndrome(s)|men syndromes|multiple endocrine neoplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0017169	https://omim.org/phenotypicSeries/PS131100|NCIT:C6432|Orphanet:276161|http://identifiers.org/snomedct/46724008|UMLS:C0027662|http://identifiers.org/mesh/D009377	ordo_group_of_disorders|disease_grouping
MONDO:0032784	biolink:Disease	neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements		OMIM:618497	mondo.json	NEDNEH|NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS	http://purl.obolibrary.org/obo/MONDO_0032784	https://omim.org/entry/618497	
CHR:9606-chr8q12	biolink:NamedThing	8q12 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr8q12		
MONDO:0032785	biolink:Disease	polydactyly, postaxial, type a10		OMIM:618498	mondo.json	POLYDACTYLY, POSTAXIAL, TYPE A10|PAPA10	http://purl.obolibrary.org/obo/MONDO_0032785	https://omim.org/entry/618498	
MONDO:0017163	biolink:Disease	obsolete hemolytic disease due to fetomaternal alloimmunization		Orphanet:275938|UMLS:CN202585	mondo.json	hemolytic disease of the fetus and newborn	http://purl.obolibrary.org/obo/MONDO_0017163	Orphanet:275938|UMLS:CN202585	ordo_group_of_disorders
MONDO:0032782	biolink:Disease	immunodeficiency 63 with lymphoproliferation and autoimmunity		OMIM:618495	mondo.json	IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY|Interleukin 2 Receptor, Beta, Deficiency of|IMD63|Il2Rb Deficiency|Cd122 Deficiency	http://purl.obolibrary.org/obo/MONDO_0032782	https://omim.org/entry/618495	
MONDO:0032783	biolink:Disease	aortic valve disease 3		OMIM:618496	mondo.json	AORTIC VALVE DISEASE 3|AOVD3	http://purl.obolibrary.org/obo/MONDO_0032783	https://omim.org/entry/618496	
MONDO:0017164	biolink:Disease	hemolytic disease of the newborn with Kell alloimmunization		Orphanet:275944|UMLS:CN202586	mondo.json	anti-K HDN|maternal anti-Kell alloimmunization	http://purl.obolibrary.org/obo/MONDO_0017164	Orphanet:275944|UMLS:CN202586	ordo_disease
MONDO:0017165	biolink:Disease	bile acid CoA ligase deficiency and defective amidation	Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure.	Orphanet:276066|UMLS:C4274079|SCTID:717047007	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017165	Orphanet:276066|UMLS:C4274079|http://identifiers.org/snomedct/717047007	ordo_disease
MONDO:0032780	biolink:Disease	hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities		OMIM:618493	mondo.json	HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES|HIDEA	http://purl.obolibrary.org/obo/MONDO_0032780	https://omim.org/entry/618493	
MONDO:0017166	biolink:Disease	obsolete rare tumor of salivary glands		Orphanet:276142	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017166	Orphanet:276142	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0032781	biolink:Disease	congenital hypotonia, epilepsy, developmental delay, and digital anomalies		OMIM:618494	mondo.json	CHEDDA|CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES	http://purl.obolibrary.org/obo/MONDO_0032781	https://omim.org/entry/618494	
MONDO:0005208	biolink:Disease	amelanotic skin melanoma	A amelanotic melanoma that involves the zone of skin.	UMLS:C0349515|EFO:0002894|Wikipedia:Amelanotic_melanoma|DOID:10054|NCIT:C4633	mondo.json	amelanotic malignant melanoma of skin|amelanotic melanoma of skin|amelanotic malignant melanoma of the skin|amelanotic melanoma of the skin|amelanotic melanoma of zone of skin|skin amelanotic melanoma|amelanotic skin melanoma|amelanotic cutaneous (skin) melanoma|amelanotic malignant skin melanoma|zone of skin amelanotic melanoma|skin amelanotic malignant melanoma|amelanotic malignant melanoma (of skin)	http://purl.obolibrary.org/obo/MONDO_0005208	UMLS:C0349515|DOID:10054|NCIT:C4633	
MONDO:0032827	biolink:Disease	epilepsy, idiopathic generalized, susceptibility to, 16		OMIM:618596	mondo.json	EIG16	http://purl.obolibrary.org/obo/MONDO_0032827	https://omim.org/entry/618596	
MF:0000013	biolink:NamedThing	thinking	a mental process that involves the manipulation of mental language and/or mental images		mondo.json		http://purl.obolibrary.org/obo/MF_0000013		
MONDO:0005207	biolink:Disease	choriocarcinoma	An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.	SCTID:188188009|MESH:D002822|HP:0100768|ICDO:9100/3|DOID:3594|UMLS:C0008497|EFO:0002893|ONCOTREE:BCCA|NCIT:C2948|GARD:0006059	mondo.json	choriocarcinoma|chorioepithelioma|choriocarcinoma (disease)|choriocarcinoma, malignant|chorionic carcinoma|chorioblastoma|chorion carcinoma	http://purl.obolibrary.org/obo/MONDO_0005207	NCIT:C2948|UMLS:C0008497|DOID:3594|http://identifiers.org/snomedct/188188009|http://identifiers.org/mesh/D002822	
MONDO:0032828	biolink:Disease	spastic tetraplegia and axial hypotonia, progressive		OMIM:618598	mondo.json	STAHP|Sod1 Deficiency, Autosomal Recessive|SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE	http://purl.obolibrary.org/obo/MONDO_0032828	https://omim.org/entry/618598	
MONDO:0007869	biolink:Disease	Kyrle disease	Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure. In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop.	OMIM:149500|SCTID:34042008|GARD:0009738|UMLS:C0263382|MESH:C538130	mondo.json	Kyrle's disease|hyperkeratosis follicularis et parafollicularis in cutem penetrans|Kyrle disease	http://purl.obolibrary.org/obo/MONDO_0007869	http://identifiers.org/snomedct/34042008|UMLS:C0263382|http://identifiers.org/mesh/C538130|https://omim.org/entry/149500	gard_rare
HGNC:10908	biolink:NamedThing	SLC11A2			mondo.json		http://identifiers.org/hgnc/10908		
MONDO:0005209	biolink:Disease	obsolete cutaneous T-cell lymphoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005209		
HGNC:10909	biolink:NamedThing	SLC40A1			mondo.json		http://identifiers.org/hgnc/10909		
MONDO:0032826	biolink:Disease	nephrotic syndrome, type 21		OMIM:618594	mondo.json	NEPHROTIC SYNDROME, TYPE 21|NPHS21	http://purl.obolibrary.org/obo/MONDO_0032826	https://omim.org/entry/618594	
MONDO:0007867	biolink:Disease	nonsyndromic congenital nail disorder 2		SCTID:66270006|ICD9:703.8|OMIM:149300|DOID:0080080|GARD:0009760|MESH:C537260	mondo.json	NDNC2|nonsyndromic congenital nail disorder type 2|hereditary koilonychia|nail disorder, nonsyndromic congenital, 2|congenital koilonychia|spoon nails|Koilonychia with leukonychia|Koilonychia, hereditary|familial koilonychia	http://purl.obolibrary.org/obo/MONDO_0007867	https://omim.org/entry/149300|DOID:0080080|http://identifiers.org/mesh/C537260|http://identifiers.org/snomedct/66270006	
NCBITaxon:29031	biolink:OrganismalEntity	Phlebotomus papatasi		GC_ID:1	mondo.json	Phlebotomus papatasii|Phlebotomus (Phlebotomus) papatasi	http://purl.obolibrary.org/obo/NCBITaxon_29031		
MONDO:0032823	biolink:Disease	intellectual developmental disorder 60 with seizures		OMIM:618587	mondo.json	INTELLECTUAL DEVELOPMENTAL DISORDER 60 WITH SEIZURES|MRD60|Mental Retardation, Autosomal Dominant 60, With Seizures	http://purl.obolibrary.org/obo/MONDO_0032823	https://omim.org/entry/618587	
MONDO:0005204	biolink:Disease	primary antiphospholipid syndrome	An antiphospholipid syndrome that occurs as an isolated disorder.	ICD9:795.79|SCTID:239892009|UMLS:C0409980|EFO:0002689	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005204	UMLS:C0409980|http://identifiers.org/snomedct/239892009	
NBO:0000612	biolink:NamedThing	communication behavior	"A social behavior related to the activity of conveying information." [wikipedia:Communication]		mondo.json	communicating|signal exchange	http://purl.obolibrary.org/obo/NBO_0000612		
MONDO:0005203	biolink:Disease	ischemia reperfusion injury	Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the tissue (reperfusion), including swelling; hemorrhage; necrosis; and damage from free radicals. The most common instance is myocardial reperfusion injury.	MESH:D015427|PMID:10685060|EFO:0002687	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005203	http://identifiers.org/mesh/D015427	
MONDO:0007868	biolink:Disease	hyperekplexia 1	A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.	DOID:0060696|OMIM:149400	mondo.json	HKPX1|Stiff-baby syndrome|Stiff-Man syndrome, congenital|Kok disease|exaggerated startle reaction|hyperekplexia, hereditary 1|hyperekplexia type 1|Stiff-Person syndrome, congenital|hyperekplexia 1|Sthe|hyperekplexia, hereditary type 1|startle reaction, exaggerated|startle disease, familial	http://purl.obolibrary.org/obo/MONDO_0007868	DOID:0060696|https://omim.org/entry/149400	
MONDO:0032824	biolink:Disease	glycosylphosphatidylinositol biosynthesis defect 21		OMIM:618590	mondo.json	Neurodevelopmental Disorder With Brain Anomalies, Seizures, and Scoliosis|GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 21|GPIBD21	http://purl.obolibrary.org/obo/MONDO_0032824	https://omim.org/entry/618590	
MONDO:0005206	biolink:Disease	renal carcinoma	A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms.	NCIT:C9384|UMLS:C1378703|EFO:0002890|DOID:4451	mondo.json	kidney (renal) cancer|kidney cancer|kidney (including renal cell) cancer|carcinoma of kidney|renal carcinoma|kidney carcinoma|renal cancer	http://purl.obolibrary.org/obo/MONDO_0005206	NCIT:C9384|DOID:4451|UMLS:C1378703	
MONDO:0007865	biolink:Disease	knuckle pads		ICD10CM:M72.1|OMIM:149100|UMLS:C0264000|SCTID:16687001|ICD9:728.79	mondo.json	knuckle pads	http://purl.obolibrary.org/obo/MONDO_0007865	http://purl.bioontology.org/ontology/ICD10CM/M72.1|https://omim.org/entry/149100|http://identifiers.org/snomedct/16687001|UMLS:C0264000	
MONDO:0032821	biolink:Disease	myopathy, congenital, progressive, with scoliosis		OMIM:618578	mondo.json	MYOSCO|MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS	http://purl.obolibrary.org/obo/MONDO_0032821	https://omim.org/entry/618578	
UBERON:0016481	biolink:AnatomicalEntity	bronchial lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016481		
MONDO:0007866	biolink:Disease	Bart-Pumphrey syndrome		GARD:0003125|SCTID:1271009|Orphanet:2698|MESH:C537210|OMIM:149200|ICD9:759.89|DOID:0050658	mondo.json	Bart-Pumphrey syndrome|knuckle pads, leukonychia, and sensorineural deafness|knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome|knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome|knuckle pads, leuconychia and sensorineural deafness	http://purl.obolibrary.org/obo/MONDO_0007866	DOID:0050658|https://omim.org/entry/149200|http://identifiers.org/snomedct/1271009|http://identifiers.org/mesh/C537210|Orphanet:2698	ordo_disease
MONDO:0005205	biolink:Disease	obsolete systemic lupus erythematosus			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005205		
MONDO:0032822	biolink:Disease	developmental and epileptic encephalopathy, 80		OMIM:618580	mondo.json	developmental and epileptic encephalopathy 80|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80|Glycosylphosphatidylinositol Biosynthesis Defect 20|epileptic encephalopathy, early infantile, 80|EIEE80|DEE80	http://purl.obolibrary.org/obo/MONDO_0032822	https://omim.org/entry/618580	
CHEBI:33635	biolink:ChemicalSubstance	polycyclic compound			mondo.json	polycyclic compounds	http://purl.obolibrary.org/obo/CHEBI_33635		
MONDO:0007863	biolink:Disease	Kleine-Levin syndrome	Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances.	NCIT:C84800|DOID:0060165|MESH:D017593|MedDRA:10053712|Orphanet:33543|UMLS:C0206085|OMIM:148840|EFO:1001354|GARD:0003117|SCTID:111488004	mondo.json	Kleine-Levin syndrome|Kleine Levin syndrome|familial Kleine-Levin syndrome|familial hibernation syndrome|Kleine-LEVIN hibernation syndrome	http://purl.obolibrary.org/obo/MONDO_0007863	DOID:0060165|http://identifiers.org/mesh/D017593|http://identifiers.org/snomedct/111488004|NCIT:C84800|Orphanet:33543|UMLS:C0206085|https://omim.org/entry/148840	ordo_disease|gard_rare
MONDO:0020841	biolink:Disease	neurodevelopmental disorder with cerebellar atrophy and with or without seizures		OMIM:618056|UMLS:CN252657	mondo.json	neurodevelopmental disorder with cerebellar atrophy and with or without seizures|NEDCAS	http://purl.obolibrary.org/obo/MONDO_0020841	https://omim.org/entry/618056|UMLS:CN252657	
MONDO:0005200	biolink:Disease	viral dilated cardiomyopathy	An dilated cardiomyopathy caused by infection with Viruses.	EFO:0002629|UMLS:C0264797|SCTID:30496006|Wikipedia:Viral_cardiomyopathy	mondo.json	Viruses caused dilated cardiomyopathy|Viruses dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0005200	UMLS:C0264797|http://identifiers.org/snomedct/30496006	
MONDO:0007864	biolink:Disease	angioosteohypertrophic syndrome	A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.	Orphanet:2346|MESH:D007715|OMIM:149000|NCIT:C84801|EFO:0007334|GARD:0003122|UMLS:C0022739|DOID:2926|Orphanet:90308|SCTID:721105004|UMLS:CN201567|MedDRA:10051452	mondo.json	KTS|Ktw syndrome|Klippel-Trénaunay-Weber syndrome|Klippel-Trenaunay-Weber syndrome, Isolated cases|Klippel Trenaunay syndrome|Klippel-Trenaunay syndrome|angioosteohypertrophy syndrome|Klippel-Trenaunay-Weber syndrome|Weber-Klippel-Trenaunay|haemangiectatic hypertrophy|Klippel-Trénaunay syndrome|angio-osteohypertrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0007864	http://identifiers.org/snomedct/721105004|http://identifiers.org/mesh/D007715|UMLS:C0022739|DOID:2926|https://omim.org/entry/149000|NCIT:C84801|Orphanet:2346|UMLS:CN201567|Orphanet:90308	ordo_clinical_subtype|gard_rare|ordo_disease
CHEBI:33636	biolink:ChemicalSubstance	bicyclic compound	A molecule that features two fused rings.		mondo.json	bicyclic compounds	http://purl.obolibrary.org/obo/CHEBI_33636		
MONDO:0020840	biolink:Disease	pulmonary alveolar proteinosis with hypogammaglobulinemia	A primarily a lung disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis (PAP) in the first months of life. Affected individuals may have normal respiratory function at birth. Development of the disorder appears to be influenced or triggered by viral infection, manifest as progressive respiratory insufficiency, confluent consolidations on lung imaging, and diffuse collection of periodic acid-Schiff (PAS)-positive material in pulmonary alveoli associated with small and nonfoamy alveolar macrophages. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly. Many patients die of respiratory failure in infancy or early childhood; hematopoietic stem cell transplantation (HSCT) is curative. The pathogenesis may be related to abnormal function of alveolar macrophages, resulting in decreased catabolism of surfactant. The disorder results from a gain-of-function effect that particularly affects B cells and monocytes.	OMIM:618042|UMLS:CN248786	mondo.json	immunodeficiency (due to OAS1 gain-of-function variant) with pulmonary alveolar proteinosis and hypogammaglobulinemia|pulmonary alveolar proteinosis with hypogammaglobulinemia|PAPHG	http://purl.obolibrary.org/obo/MONDO_0020840	https://omim.org/entry/618042|UMLS:CN248786	
MONDO:0005202	biolink:Disease	atopic IgE-mediated allergic disorder	A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms.	UMLS:C1706410|SCTID:115665000|ICD9:995.3|EFO:0002686	mondo.json	Atopic allergy|atopic state|atopy	http://purl.obolibrary.org/obo/MONDO_0005202	UMLS:C1706410|http://identifiers.org/snomedct/115665000	
MONDO:0007861	biolink:Disease	isolated cloverleaf skull syndrome	Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.	MESH:C536884|OMIM:600775|SCTID:254022009|OMIM:148800|Orphanet:2343|UMLS:CN201565|GARD:0003115	mondo.json	Kleeblattschaedel deformity syndrome|Kleeblattschaedel-deformity syndrome|cloverleaf skull|KLEEBLATTSCHAEDEL|Kleeblattschaedel syndrome|cloverleaf skull syndrome|isolated cloverleaf skull syndrome|Kleeblattschadel	http://purl.obolibrary.org/obo/MONDO_0007861	http://identifiers.org/mesh/C536884|http://identifiers.org/snomedct/254022009|Orphanet:2343|UMLS:CN201565|https://omim.org/entry/148800	gard_rare|ordo_morphological_anomaly
CHEBI:33637	biolink:ChemicalSubstance	ortho-fused compound	A polycyclic compound in which two rings have two, and only two, atoms in common. Such compounds have n common faces and 2n common atoms.		mondo.json	ortho-fused compounds|ortho-fused polycyclic compounds	http://purl.obolibrary.org/obo/CHEBI_33637		
MONDO:0005201	biolink:Disease	restrictive cardiomyopathy	A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium.	EFO:0002630|MESH:D002313|UMLS:C0007196|DOID:397|Orphanet:217632|NCIT:C62798|SCTID:415295002|ICD9:425.4|MedDRA:10038748	mondo.json	primary restrictive cardiomyopathy|cardiomyopathy, constrictive|familial restrictive cardiomyopathy|restrictive cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0005201	UMLS:C0007196|NCIT:C62798|http://identifiers.org/snomedct/415295002|Orphanet:217632|http://identifiers.org/mesh/D002313|DOID:397	ordo_group_of_disorders|disease_grouping
MONDO:0007862	biolink:Disease	Waardenburg syndrome type 3	Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.	ICD10CM:E70.3|GARD:0005523|OMIM:148820|DOID:0110949|Orphanet:896	mondo.json	Waardenburg syndrome, type 3|White forelock (poliosis) syndrome with multiple congenital malformations|WS3|Waardenburg syndrome with limb anomalies|Waardenburg syndrome type III|Klein-Waardenburg syndrome|Waardenburg syndrome with upper limb anomalies	http://purl.obolibrary.org/obo/MONDO_0007862	Orphanet:896|DOID:0110949|https://omim.org/entry/148820	ordo_clinical_subtype|gard_rare
HGNC:10906	biolink:NamedThing	SLC10A2			mondo.json		http://identifiers.org/hgnc/10906		
MONDO:0007860	biolink:Disease	focal palmoplantar and gingival keratoderma	Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.	UMLS:C1835650|MESH:C536157|GARD:0003098|Orphanet:2200|SCTID:764963007|OMIM:148730	mondo.json	focal palmoplantar and gingival hyperkeratosis syndrome|keratosis, focal palmoplantar and gingival|focal palmoplantar and gingival hyperkeratosis|focal palmoplantar and oral mucosa hyperkeratosis|keratosis focal palmoplantar gingival	http://purl.obolibrary.org/obo/MONDO_0007860	UMLS:C1835650|http://identifiers.org/snomedct/764963007|Orphanet:2200|https://omim.org/entry/148730|http://identifiers.org/mesh/C536157	gard_rare|ordo_disease
HGNC:10907	biolink:NamedThing	SLC11A1			mondo.json		http://identifiers.org/hgnc/10907		
MONDO:0032829	biolink:Disease	neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities		OMIM:618603	mondo.json	NEDHIB|NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES|neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	http://purl.obolibrary.org/obo/MONDO_0032829	https://omim.org/entry/618603	
MONDO:0020838	biolink:Disease	anterior nasal diphtheria	Infection of the anterior nasal structures by Corynebacterium diphtheriae.	ICD9:032.2|NCIT:C34542|UMLS:C0012553|SCTID:15682004	mondo.json	anterior nasal diphtheria|Anterior Nasal Diphtheria|Anterior nasal diphtheria	http://purl.obolibrary.org/obo/MONDO_0020838	NCIT:C34542|UMLS:C0012553|http://identifiers.org/snomedct/15682004	
MONDO:0020837	biolink:Disease	oocyte maturation defect 5		OMIM:617996	mondo.json	OOMD5|oocyte maturation defect 5	http://purl.obolibrary.org/obo/MONDO_0020837	https://omim.org/entry/617996	
MONDO:0019859	biolink:Disease	obsolete congenital thyroid malformation without hypothyroidism		Orphanet:95718	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019859	Orphanet:95718	ordo_group_of_disorders
MONDO:0044807	biolink:Disease	inherited dystonia	An instance of dystonic disorder that is caused by an inherited modification of the individual's genome.	UMLS:CN227322|Orphanet:391799|NCIT:C35527|OMIMPS:128100	mondo.json	rare genetic dystonia|hereditary dystonic disorder|familial dystonia|rare genetic dystonic disorder	http://purl.obolibrary.org/obo/MONDO_0044807	UMLS:CN227322|NCIT:C35527|https://omim.org/phenotypicSeries/PS128100|Orphanet:391799	ordo_group_of_disorders|disease_grouping
MONDO:0020836	biolink:Disease	autism, susceptiblity to		OMIMPS:209850	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020836	https://omim.org/phenotypicSeries/PS209850	predisposition
MONDO:0020835	biolink:Disease	methemoglobinemia, alpha type		OMIM:617973	mondo.json	methemoglobinemia, alpha type	http://purl.obolibrary.org/obo/MONDO_0020835	https://omim.org/entry/617973	
MONDO:0019856	biolink:Disease	obsolete primary congenital hypothyroidism without thyroid developmental anomaly	OBSOLETE. Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism in which the thyroid gland is anatomically normal.	Orphanet:95714	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019856	Orphanet:95714	ordo_group_of_disorders
MONDO:0044800	biolink:Disease	desmoplastic spitz nevus	A Spitz nevus associated with fibrous stroma formation.	UMLS:C1275419|NCIT:C82864|SCTID:400022009	mondo.json	Desmoplastic spitz Nevus	http://purl.obolibrary.org/obo/MONDO_0044800	UMLS:C1275419|NCIT:C82864|http://identifiers.org/snomedct/400022009	
MONDO:0019855	biolink:Disease	athyreosis	Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.	OMIM:218700|Orphanet:95713	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019855	Orphanet:95713	ordo_morphological_anomaly
HGNC:10910	biolink:NamedThing	SLC12A1			mondo.json		http://identifiers.org/hgnc/10910		
MONDO:0019858	biolink:Disease	idiopathic congenital hypothyroidism	Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown.	SCTID:717334008|Orphanet:95717|UMLS:C4273913	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019858	http://identifiers.org/snomedct/717334008|Orphanet:95717|UMLS:C4273913	ordo_disease
MONDO:0019857	biolink:Disease	congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies	Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent.	SCTID:717333002|Orphanet:95715|UMLS:C4273914	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019857	http://identifiers.org/snomedct/717333002|Orphanet:95715|UMLS:C4273914	ordo_disease
MONDO:0020831	biolink:Disease	congenital vertebral-cardiac-renal anomalies syndrome		OMIMPS:617660|Orphanet:521438	mondo.json	VCRL|vertebral, cardiac, renal, and limb defects syndrome	http://purl.obolibrary.org/obo/MONDO_0020831	Orphanet:521438|https://omim.org/phenotypicSeries/PS617660	ordo_malformation_syndrome
MONDO:0019852	biolink:Disease	inherited primary ovarian failure	An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome.	OMIM:613291|ICD10CM:E28.3|OMIMPS:311360|Orphanet:95710	mondo.json	non-acquired premature ovarian failure|hereditary primary ovarian failure|inherited premature ovarian failure	http://purl.obolibrary.org/obo/MONDO_0019852	Orphanet:95710|https://omim.org/phenotypicSeries/PS311360	disease_grouping|ordo_group_of_disorders
MONDO:0032830	biolink:Disease	snijders blok-fisher syndrome		OMIM:618604	mondo.json	SNIBFIS|SNIJDERS BLOK-FISHER SYNDROME	http://purl.obolibrary.org/obo/MONDO_0032830	https://omim.org/entry/618604	
MONDO:0019851	biolink:Disease	acquired primary ovarian failure	An instance of primary ovarian failure that is acquired during the lifetime of the individual.	Orphanet:95709|SCTID:717954003|UMLS:C4303540	mondo.json	acquired premature ovarian failure|acquired primary ovarian failure	http://purl.obolibrary.org/obo/MONDO_0019851	Orphanet:95709|http://identifiers.org/snomedct/717954003|UMLS:C4303540	ordo_group_of_disorders|disease_grouping
MONDO:0032831	biolink:Disease	pontocerebellar hypoplasia, type 13		OMIM:618606|Orphanet:613267	mondo.json	PCH13|PONTOCEREBELLAR HYPOPLASIA, TYPE 13	http://purl.obolibrary.org/obo/MONDO_0032831	https://omim.org/entry/618606|Orphanet:613267	ordo_disorder
MONDO:0019854	biolink:Disease	thyroid ectopia	Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.	OMIM:218700|Orphanet:95712	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019854	Orphanet:95712	ordo_morphological_anomaly
MONDO:0019853	biolink:Disease	obsolete congenital hypothyroidism due to developmental anomaly	OBSOLETE. Thyroid dysgenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.	Orphanet:95711	mondo.json	primary congenital hypothyroidism due to developmental anomaly	http://purl.obolibrary.org/obo/MONDO_0019853	Orphanet:95711	ordo_group_of_disorders
FOODON:00001118	biolink:NamedThing	cattle dairy food product			mondo.json		http://purl.obolibrary.org/obo/FOODON_00001118		
MONDO:0044808	biolink:Disease	obsolete early onset primary dystonia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0044808		
MF:0000008	biolink:NamedThing	cognitive process	A mental process that creates, modifies or has as participant some cognitive representation.		mondo.json		http://purl.obolibrary.org/obo/MF_0000008		
MONDO:0019850	biolink:Disease	obsolete precocious puberty			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019850		
MONDO:0032838	biolink:Disease	neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies		OMIM:618622	mondo.json	NEDMABA|NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES	http://purl.obolibrary.org/obo/MONDO_0032838	https://omim.org/entry/618622	
MONDO:0005219	biolink:Disease	breast fibrocystic disease	Fibrosis associated with cyst formation in the breast parenchyma.	EFO:0003014|DOID:10354|UMLS:C0016034|ICD9:610.1|MESH:D005348|NCIT:C3039	mondo.json	fibrocystic disease|fibrocystic change of breast|mammary dysplasia|fibrocystic change of the breast|diffuse cystic mastopathy|fibrocystic disease of breast|benign breast disease|fibrocystic breast changes|cystic disease of breast|cystic disease of the breast|fibrocystic breast|breast fibrocystic change|fibrocystic disease of the breast|fibrocystic mastopathy|fibrocystic breast disease	http://purl.obolibrary.org/obo/MONDO_0005219	http://identifiers.org/mesh/D005348|UMLS:C0016034|NCIT:C3039|DOID:10354	
MONDO:0032839	biolink:Disease	noonan syndrome 12		OMIM:618624	mondo.json	NOONAN SYNDROME 12|NS12	http://purl.obolibrary.org/obo/MONDO_0032839	https://omim.org/entry/618624	
MONDO:0005218	biolink:Disease	muscular disorder	Acquired, familial, and congenital disorders of skeletal muscle and smooth muscle.	MESH:D009135|EFO:0002970|DOID:0080000	mondo.json	muscle organ disease or disorder|disorder of muscle organ|disease of muscle organ|disease or disorder of muscle organ|muscle organ disease	http://purl.obolibrary.org/obo/MONDO_0005218	DOID:0080000|http://identifiers.org/mesh/D009135	obsoletion_candidate
MONDO:0032836	biolink:Disease	weiss-kruszka syndrome		OMIM:618619	mondo.json	weiss-kruszka syndrome|WSKA|WEISS-KRUSZKA SYNDROME	http://purl.obolibrary.org/obo/MONDO_0032836	https://omim.org/entry/618619	
MONDO:0032837	biolink:Disease	abdominal obesity-metabolic syndrome 4		OMIM:618620	mondo.json	AOMS4|ABDOMINAL OBESITY-METABOLIC SYNDROME 4	http://purl.obolibrary.org/obo/MONDO_0032837	https://omim.org/entry/618620	
MF:0000020	biolink:NamedThing	mental process	A mental process is a bodily process that is of a type such that it can of itself be conscious. Examples include thinking, feeling pain, remembering and emotion as occurrent experiences. 		mondo.json		http://purl.obolibrary.org/obo/MF_0000020		
MONDO:0007878	biolink:Disease	congenital laryngomalacia	Increased collapsibility of the larynx.	GARD:0006865|SCTID:253737007|MESH:D055092|ICD9:748.3|MedDRA:10060786|NCIT:C98971|Orphanet:2373|ICD10CM:Q31.5|OMIM:150280	mondo.json	congenital laryngeal stridor|laryngomalacia congenital|laryngomalacia	http://purl.obolibrary.org/obo/MONDO_0007878	http://identifiers.org/snomedct/253737007|NCIT:C98971|Orphanet:2373|http://identifiers.org/mesh/D055092|http://purl.bioontology.org/ontology/ICD10CM/Q31.5|https://omim.org/entry/150280	ordo_malformation_syndrome
MONDO:0032834	biolink:Disease	retinitis pigmentosa 86		OMIM:618613	mondo.json	RP86|RETINITIS PIGMENTOSA 86	http://purl.obolibrary.org/obo/MONDO_0032834	https://omim.org/entry/618613	
MONDO:0005215	biolink:Disease	vulvar carcinoma	A carcinoma that arises from epithelial cells of the mammalian vulva	SCTID:447882007|Orphanet:494418|NCIT:C4866|UMLS:C0677055|EFO:0002921|DOID:1294	mondo.json	carcinoma of vulva|vulva carcinoma|cancer of the vulva|cancer of vulva|vulvar carcinoma|carcinoma of the vulva|carcinoma of mammalian vulva|vulva cancer|mammalian vulva carcinoma|vulvar cancer	http://purl.obolibrary.org/obo/MONDO_0005215	DOID:1294|UMLS:C0677055|NCIT:C4866|http://identifiers.org/snomedct/447882007|Orphanet:494418	
MONDO:0007879	biolink:Disease	larynx atresia	A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation.	ICD9:748.3|UMLS:C0265756|OMIM:150300|MESH:C563637|NCIT:C98972|GARD:0003194|GARD:0003192|SCTID:64981002|Orphanet:1202	mondo.json	congenital atresia of larynx|congenital atresia of the larynx|congenital partial atresia of the larynx|laryngeal atresia|larynx, congenital partial atresia OF	http://purl.obolibrary.org/obo/MONDO_0007879	UMLS:C0265756|https://omim.org/entry/150300|http://identifiers.org/mesh/C563637|NCIT:C98972|http://identifiers.org/snomedct/64981002|Orphanet:1202	ordo_malformation_syndrome
CHR:9606-chr11p15.4	biolink:NamedThing	11p15.4 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr11p15.4		
MONDO:0005214	biolink:Disease	vulva sarcoma	A malignant mesenchymal neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma.	NCIT:C40317|SCTID:254897006|UMLS:C0238525|EFO:0002920|DOID:2096	mondo.json	sarcoma of vulva|sarcoma of mammalian vulva|mammalian vulva sarcoma|vulvar sarcoma	http://purl.obolibrary.org/obo/MONDO_0005214	DOID:2096|http://identifiers.org/snomedct/254897006|UMLS:C0238525|NCIT:C40317	
MONDO:0032835	biolink:Disease	spondyloepiphyseal dysplasia, nishimura type		OMIM:618618	mondo.json	SEDN|SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE	http://purl.obolibrary.org/obo/MONDO_0032835	https://omim.org/entry/618618	
MONDO:0007876	biolink:Disease	laryngeal abductor paralysis		ICD9:748.3|GARD:0005509|Orphanet:2808|OMIM:150260|UMLS:CN202762|SCTID:232442001	mondo.json	Labd|vocal cord dysfunction, familial|laryngeal abductor paralysis|vocal cord dysfunction familial|familial vocal cord dysfunction|Gerhardt syndrome	http://purl.obolibrary.org/obo/MONDO_0007876	http://identifiers.org/snomedct/232442001|UMLS:CN202762|Orphanet:2808|https://omim.org/entry/150260	ordo_malformation_syndrome
MONDO:0005217	biolink:Disease	familial cardiomyopathy	An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome.	UMLS:C0264789|SCTID:35728003|ICD9:425.4|EFO:0002945	mondo.json	hereditary cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0005217	UMLS:C0264789|http://identifiers.org/snomedct/35728003	
MONDO:0032832	biolink:Disease	intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies		OMIM:618608	mondo.json	Chromosome 12Q15 Deletion Syndrome|IDNADFS|INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES	http://purl.obolibrary.org/obo/MONDO_0032832	https://omim.org/entry/618608	
MONDO:0005216	biolink:Disease	hypopharyngeal carcinoma	Carcinoma, predominantly squamous cell, arising from the epithelial cells of the hypopharynx.	NCIT:C9465|EFO:0002938	mondo.json	hypopharyngeal cancer|hypopharynx carcinoma|hypopharyngeal throat cancer|cancer of the hypopharynx|cancer of hypopharynx|hypopharyngeal carcinoma|carcinoma of the hypopharynx|carcinoma of hypopharynx	http://purl.obolibrary.org/obo/MONDO_0005216	NCIT:C9465	
MONDO:0007877	biolink:Disease	laryngeal adductor paralysis		MESH:C562861|OMIM:150270	mondo.json	LAP|vocal cord dysfunction, adductor type|laryngeal adductor paralysis	http://purl.obolibrary.org/obo/MONDO_0007877	http://identifiers.org/mesh/C562861|https://omim.org/entry/150270	
MONDO:0032833	biolink:Disease	lower urinary tract obstruction, congenital		OMIM:618612	mondo.json	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL|LUTO	http://purl.obolibrary.org/obo/MONDO_0032833	https://omim.org/entry/618612	
MONDO:0005211	biolink:Disease	ovarian serous adenocarcinoma	An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia.	NCIT:C7550|EFO:0002917|DOID:0050933|DOID:5744|ONCOTREE:SOC	mondo.json	serous carcinoma of the ovary|ovarian serous adenocarcinoma|ovarian serous carcinoma|serous ovarian cancer|serous carcinoma of ovary|serous adenocarcinoma of the ovary|serous adenocarcinoma of ovary|ovary serous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005211	NCIT:C7550|DOID:0050933|DOID:5744	
MONDO:0007874	biolink:Disease	trichorhinophalangeal syndrome type II	Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.	OMIM:150230|UMLS:C0023003|ICD9:759.89|Orphanet:502|NCIT:C75118|DOID:4998|SCTID:41069008|MESH:D015826|MedDRA:10050638|GARD:0007801	mondo.json	TRPS 2|chromosome 8Q24.1 deletion syndrome|trichorhinophalangeal syndrome, type II|Giedion-Langer syndrome|Langer Giedion syndrome|trichorhinophalangeal syndrome type 2|trichorhinophalangeal syndrome, type 2|Langer-Giedion syndrome|trichorhinophalangeal dysplasia type II|monosomy 8q24.1|TRPS2|deletion 8q24.1	http://purl.obolibrary.org/obo/MONDO_0007874	http://identifiers.org/mesh/D015826|http://identifiers.org/snomedct/41069008|NCIT:C75118|Orphanet:502|https://omim.org/entry/150230|UMLS:C0023003|DOID:4998	ordo_malformation_syndrome
MONDO:0020830	biolink:Disease	diaphragmitis		UMLS:C0011985|SCTID:73160007|EFO:0000937	mondo.json	diaphragmatitis|diaphragmitis	http://purl.obolibrary.org/obo/MONDO_0020830	UMLS:C0011985|http://identifiers.org/snomedct/73160007	
MONDO:0005210	biolink:Disease	uterine corpus sarcoma	A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma.	ONCOTREE:USARC|Orphanet:213620|NCIT:C6339|MedDRA:10039497|EFO:0002914|SCTID:254877001|DOID:5165|UMLS:C0338113|GARD:0009383	mondo.json	body of uterus sarcoma|sarcoma of uterus|sarcoma of the uterus|uterine sarcoma/mesenchymal|sarcoma of body of uterus|uterine body sarcoma|sarcoma of uterine corpus|sarcoma of the body of uterus|sarcoma of the uterine corpus|uterus sarcoma|sarcoma of uterine body|sarcoma of corpus uteri|sarcoma of the uterine body|corpus uteri sarcoma|sarcoma of the corpus uteri|uterine sarcoma	http://purl.obolibrary.org/obo/MONDO_0005210	NCIT:C6339|http://identifiers.org/snomedct/254877001|DOID:5165|Orphanet:213620|UMLS:C0338113	ordo_group_of_disorders|disease_grouping|gard_rare
MONDO:0007875	biolink:Disease	Larsen syndrome	Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.	GARD:0006860|DOID:14764|Orphanet:503|UMLS:C0175778|ICD9:759.89|MESH:C580241|SCTID:63387002|OMIM:150250	mondo.json	LRS|dominant Larsen syndrome|Larsen syndrome|autosomal dominant Larsen syndrome	http://purl.obolibrary.org/obo/MONDO_0007875	http://identifiers.org/mesh/C580241|http://identifiers.org/snomedct/63387002|UMLS:C0175778|Orphanet:503|https://omim.org/entry/150250|DOID:14764	ordo_malformation_syndrome|gard_rare
HGNC:10914	biolink:NamedThing	SLC12A6			mondo.json		http://identifiers.org/hgnc/10914		
MONDO:0007872	biolink:Disease	LADD syndrome	Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.	DOID:0050331|SCTID:23817003|UMLS:C0265269|MESH:C538132|Orphanet:2363|ICD9:759.89|GARD:0006848|OMIM:149730	mondo.json	Lacrimoauriculoradiodental syndrome|lacrimoauriculodentodigital syndrome|lard syndrome|Lacrimoauriculodento-digital syndrome|Lacrimo-auriculo-dento-digital syndrome|levy Hollister syndrome|LACRIMOAURICULODENTODIGITAL syndrome|levy-Hollister syndrome|LADD syndrome|LADD	http://purl.obolibrary.org/obo/MONDO_0007872	http://identifiers.org/snomedct/23817003|http://identifiers.org/mesh/C538132|https://omim.org/entry/149730|Orphanet:2363|UMLS:C0265269|DOID:0050331	ordo_malformation_syndrome
MONDO:0005213	biolink:Disease	uterine carcinoma	A carcinoma involving a uterus.	EFO:0002919|SCTID:446022000|UMLS:C2960452	mondo.json	carcinoma of uterus|uterus carcinoma	http://purl.obolibrary.org/obo/MONDO_0005213	UMLS:C2960452|http://identifiers.org/snomedct/446022000	
MONDO:0005212	biolink:Disease	rhabdomyosarcoma	A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites.	EFO:0002918|NCIT:C3359|MESH:D012208|MedDRA:10039022|Orphanet:780|UMLS:C0035412|HP:0002859|DOID:3247|ICD9:171.9|ONCOTREE:RMS|SCTID:302847003|ICDO:8900/3	mondo.json	rhabdomyosarcoma, malignant|rhabdomyosarcoma|rhabdomyosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0005212	UMLS:C0035412|NCIT:C3359|http://identifiers.org/snomedct/302847003|http://identifiers.org/mesh/D012208|DOID:3247|Orphanet:780	ordo_disease
MONDO:0007873	biolink:Disease	lactic acidosis, chronic adult form		MESH:C563640|OMIM:150170|UMLS:C1835591	mondo.json	lactic acidosis, chronic adult form	http://purl.obolibrary.org/obo/MONDO_0007873	http://identifiers.org/mesh/C563640|UMLS:C1835591|https://omim.org/entry/150170	
HGNC:10912	biolink:NamedThing	SLC12A3			mondo.json		http://identifiers.org/hgnc/10912		
MONDO:0007870	biolink:Disease	labia minora, incomplete adhesion of		OMIM:149600	mondo.json	labia minora, incomplete adhesion of	http://purl.obolibrary.org/obo/MONDO_0007870	https://omim.org/entry/149600	
MONDO:0007871	biolink:Disease	familial congenital nasolacrimal duct obstruction		Orphanet:141083|MESH:C566703|Orphanet:451612|OMIM:149700	mondo.json	lacrimal puncta, absence of|nasolacrimal duct obstruction|LCDD|lacrimal duct defect	http://purl.obolibrary.org/obo/MONDO_0007871	https://omim.org/entry/149700|http://identifiers.org/mesh/C566703|Orphanet:451612	ordo_morphological_anomaly
UBERON:0016479	biolink:AnatomicalEntity	capsule of liver			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016479		
UBERON:0016478	biolink:AnatomicalEntity	liver stroma			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016478		
MONDO:0044816	biolink:Disease	familial idiopathic torsion dystonia	An instance of idiopathic torsion dystonia that is caused by an inherited modification of the individual's genome.	SCTID:230318005|NCIT:C35437	mondo.json	hereditary idiopathic torsion dystonia|genetic torsion dystonia|familial Idiopathic dystonia|idiopathic familial dystonia	http://purl.obolibrary.org/obo/MONDO_0044816	NCIT:C35437|http://identifiers.org/snomedct/230318005	
MONDO:0019849	biolink:Disease	isolated micropenis		Orphanet:95707	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019849	Orphanet:95707	ordo_morphological_anomaly
UBERON:0004495	biolink:AnatomicalEntity	skeletal muscle tissue of diaphragm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004495		
HP:0004566	biolink:PhenotypicFeature	Pear-shaped vertebrae	Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours.	UMLS:C1866731	mondo.json	Pear-shaped vertebral bodies	http://purl.obolibrary.org/obo/HP_0004566		
MONDO:0019848	biolink:Disease	posterior hypospadias	Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed.	Orphanet:95706	mondo.json	perineal, scrotal or penoscrotal hypospadias	http://purl.obolibrary.org/obo/MONDO_0019848	Orphanet:95706	ordo_morphological_anomaly
UBERON:0004493	biolink:AnatomicalEntity	cardiac muscle tissue of myocardium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004493		
MONDO:0044817	biolink:Disease	acquired idiopathic torsion dystonia	An instance of idiopathic torsion dystonia that is acquired during the lifetime of the individual.	NCIT:C35438|SCTID:230321007	mondo.json	acquired idiopathic torsion dystonia|non-Familial Idiopathic dystonia|idiopathic non-familial dystonia	http://purl.obolibrary.org/obo/MONDO_0044817	NCIT:C35438|http://identifiers.org/snomedct/230321007	
MONDO:0020823	biolink:Disease	infantile miliaria		SCTID:402824003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020823	http://identifiers.org/snomedct/402824003	
UBERON:0004491	biolink:AnatomicalEntity	cardiac muscle tissue of interatrial septum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004491		
MONDO:0019845	biolink:Disease	iatrogenic or traumatic pituitary deficiency		Orphanet:95619	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019845	Orphanet:95619	ordo_disease
UBERON:0004492	biolink:AnatomicalEntity	cardiac muscle tissue of cardiac septum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004492		
MONDO:0019844	biolink:Disease	pituitary hormone deficiency secondary to storage disease		UMLS:CN206788|Orphanet:95618	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019844	UMLS:CN206788|Orphanet:95618	ordo_group_of_disorders|disease_grouping
MONDO:0044811	biolink:Disease	idiopathic torsion dystonia	Torsion dystonia for which no underlying cause has been identified.	SCTID:22451001|NCIT:C34564|ICD9:333.6	mondo.json	Schwalbe disease|idiopathic torsion dystonia|dystonia deformans progressiva|Ziehen-oppenheim disease|primary torsion dystonia|Idiopathic torsion dystonia|dystonia musculorum deformans	http://purl.obolibrary.org/obo/MONDO_0044811	http://identifiers.org/snomedct/22451001|NCIT:C34564	
MONDO:0019847	biolink:Disease	obsolete congenital adrenal hypoplasia of maternal cause		Orphanet:95701	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019847	Orphanet:95701	ordo_disease
MONDO:0019846	biolink:Disease	acquired central diabetes insipidus	Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production.	ICD10CM:E23.2|Orphanet:95626	mondo.json	acquired CDI|acquired central diabetes insipidus|acquired neurogenic diabetes insipidus	http://purl.obolibrary.org/obo/MONDO_0019846	Orphanet:95626	ordo_clinical_subtype
MONDO:0020820	biolink:Disease	distal arthrogryposis type 2B1		DOID:0111600|OMIM:601680	mondo.json	DA2B1|arthrogryposis, distal, type 2B1	http://purl.obolibrary.org/obo/MONDO_0020820	https://omim.org/entry/601680|DOID:0111600	
UBERON:0004490	biolink:AnatomicalEntity	cardiac muscle tissue of atrium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004490		
MONDO:0019841	biolink:Disease	obsolete pituitary hormone defiency from vascular origin		ICD10CM:E23.0|Orphanet:95611	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019841	Orphanet:95611	ordo_group_of_disorders
MONDO:0032841	biolink:Disease	Usher syndrome, type 1M		OMIM:618632	mondo.json	USHER SYNDROME, TYPE 1M|USH1M	http://purl.obolibrary.org/obo/MONDO_0032841	https://omim.org/entry/618632	
MONDO:0032842	biolink:Disease	siddiqi syndrome		OMIM:618635	mondo.json	SIDDIQI SYNDROME|Deafness, Dystonia, Developmental Delay, and Poor Growth|SIDDIS	http://purl.obolibrary.org/obo/MONDO_0032842	https://omim.org/entry/618635	
MONDO:0019840	biolink:Disease	acropectororenal dysplasia	Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles.	Orphanet:956|SCTID:720413004|GARD:0000511	mondo.json	acro-pectoro-renal field defect|brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys	http://purl.obolibrary.org/obo/MONDO_0019840	http://identifiers.org/snomedct/720413004	ordo_malformation_syndrome|gard_rare
MONDO:0019843	biolink:Disease	obsolete pituitary hormone deficiency secondary to a granulomatous disease		Orphanet:95617|UMLS:CN206787	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019843	UMLS:CN206787|Orphanet:95617	ordo_group_of_disorders
MONDO:0032840	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0032840		
MONDO:0019842	biolink:Disease	obsolete pituitary apoplexy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019842		
MF:0000017	biolink:NamedThing	consciousness	Consciousness is an inseparable part of all mental processes. It is that part of the mental process that: a) confers a subjective perspective, a phenomenology, an experience of the mental process of which it is a part; and b) intends the object or event that the mental process is about, should such exist; i.e., it confers intentionality on the mental process.		mondo.json		http://purl.obolibrary.org/obo/MF_0000017		
MONDO:0032849	biolink:Disease	neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies		OMIM:618651	mondo.json	NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES|Halperin-Birk syndrome|NEDSOSB	http://purl.obolibrary.org/obo/MONDO_0032849	https://omim.org/entry/618651	
MONDO:0007849	biolink:Disease	keratitis fugax hereditaria		MESH:C563650|OMIM:148200|UMLS:C1835697	mondo.json	keratitis fugax hereditaria|keratoendothelitis fugax hereditaria|KERATOENDOTHELIITIS fugax hereditaria|Keratoendotheliitis fugax hereditaria|KEFH	http://purl.obolibrary.org/obo/MONDO_0007849	https://omim.org/entry/148200|http://identifiers.org/mesh/C563650|UMLS:C1835697	
MONDO:0056816	biolink:Disease	vulvar neuroendocrine carcinoma	A neuroendocrine carcinoma that arises from the vulva. This category includes small cell and large cell neuroendocrine carcinoma. Most small cell neuroendocrine carcinomas of the vulva are Merkel cell carcinomas.	UMLS:C4288002|NCIT:C128243	mondo.json	vulvar Neuroendocrine cancer|mammalian vulva neuroendocrine carcinoma|neuroendocrine carcinoma of mammalian vulva|vulvar Neuroendocrine carcinoma|vulvar high grade Neuroendocrine neoplasm|vulvar high grade Neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0056816	NCIT:C128243|UMLS:C4288002	
MONDO:0056817	biolink:Disease	rectal adenosquamous carcinoma	An unusual rectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.	NCIT:C43594|UMLS:C1709865	mondo.json	rectal adenosquamous carcinoma|rectal adenosquamous cancer	http://purl.obolibrary.org/obo/MONDO_0056817	NCIT:C43594|UMLS:C1709865	
MONDO:0056818	biolink:Disease	skin adenosquamous carcinoma	An uncommon carcinoma that arises from the skin. It is characterized by the presence of malignant glandular and malignant squamous cellular components.	UMLS:C1710103|NCIT:C54250	mondo.json	skin adenosquamous carcinoma|skin adenosquamous cancer	http://purl.obolibrary.org/obo/MONDO_0056818	NCIT:C54250|UMLS:C1710103	
MONDO:0007847	biolink:Disease	keloid formation		OMIM:148100	mondo.json	keloid formation	http://purl.obolibrary.org/obo/MONDO_0007847	https://omim.org/entry/148100	
MONDO:0007848	biolink:Disease	autosomal dominant keratitis	Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia.	Orphanet:2334|DOID:0111383|UMLS:C4017065|UMLS:C1835698|GARD:0003089|UMLS:CN068649|MESH:C537022|SCTID:715339004|OMIM:148190	mondo.json	dominantly inherited keratitis|keratitis, hereditary|keratitis, autosomal dominant|hereditary keratitis	http://purl.obolibrary.org/obo/MONDO_0007848	https://omim.org/entry/148190|Orphanet:2334|http://identifiers.org/mesh/C537022|DOID:0111383|UMLS:CN068649|http://identifiers.org/snomedct/715339004|UMLS:C1835698|UMLS:C4017065	ordo_disease
MONDO:0032848	biolink:Disease	immunodeficiency 65, susceptibility to viral infections		OMIM:618648	mondo.json	IMD65|IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS	http://purl.obolibrary.org/obo/MONDO_0032848	https://omim.org/entry/618648	
MONDO:0056819	biolink:Disease	nasal cavity and paranasal sinus carcinoma	A carcinoma arising from the nasal cavity or paranasal sinuses.	UMLS:C1710095|GARD:0007650|NCIT:C54293	mondo.json	sinonasal carcinoma|nasal cavity and paranasal sinus carcinoma|paranasal sinus and nasal cavity cancer|nasal cavity and paranasal sinus cancer	http://purl.obolibrary.org/obo/MONDO_0056819	NCIT:C54293|UMLS:C1710095	
MONDO:0032845	biolink:Disease	spermatogenic failure 39		OMIM:618643	mondo.json	SPGF39|SPERMATOGENIC FAILURE 39	http://purl.obolibrary.org/obo/MONDO_0032845	https://omim.org/entry/618643	
MONDO:0007845	biolink:Disease	Kaposi sarcoma, susceptibility to		OMIM:148000|Orphanet:160	mondo.json	multicentric Castleman disease, susceptibility to|Kaposi sarcoma, susceptibility to|susceptibility to Kaposi sarcoma|multiple idiopathic pigmented hemangiosarcoma, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0007845	https://omim.org/entry/148000	predisposition
MF:0000031	biolink:NamedThing	cognitive representation	A representation which specifically depends on an anatomical structure in the cognitive system of an organism.		mondo.json		http://purl.obolibrary.org/obo/MF_0000031		
MONDO:0007846	biolink:Disease	KBG syndrome	KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.	DOID:14780|MESH:C537015|UMLS:C0220687|Orphanet:2332|OMIM:148050|GARD:0000082|SCTID:711156009|ICD9:759.89	mondo.json	KBGS|KBG syndrome|short stature, characteristic facies, macrodontia, intellectual disability, and skeletal anomalies|short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome|macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies|short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies|macrodontia, intellectual disability, characteristic facies, short stature, and skeletal anomalies	http://purl.obolibrary.org/obo/MONDO_0007846	Orphanet:2332|http://identifiers.org/mesh/C537015|DOID:14780|http://identifiers.org/snomedct/711156009|UMLS:C0220687|https://omim.org/entry/148050	ordo_malformation_syndrome|gard_rare
MONDO:0056813	biolink:Disease	hormone-resistant breast carcinoma	Breast carcinoma that does not respond to hormone therapy.	NCIT:C114932	mondo.json	hormone-refractory breast cancer|hormone-resistant breast carcinoma|hormone-resistant breast cancer	http://purl.obolibrary.org/obo/MONDO_0056813	NCIT:C114932	
MF:0000032	biolink:NamedThing	bodily disposition	A bodily disposition is a disposition that inheres in some extended organism. Examples are: my disposition to catch a cold when exposed to a virus, my ability to speak the English language.		mondo.json		http://purl.obolibrary.org/obo/MF_0000032		
MONDO:0032846	biolink:Disease	osteogenesis imperfecta, type 20		OMIM:618644	mondo.json	OSTEOGENESIS IMPERFECTA, TYPE XX|OI20	http://purl.obolibrary.org/obo/MONDO_0032846	https://omim.org/entry/618644	
MONDO:0056814	biolink:Disease	hormone-resistant prostate carcinoma	Prostate carcinoma that does not respond to hormone therapy.	NCIT:C114933	mondo.json	hormone-resistant prostate cancer|hormone-resistant prostate carcinoma	http://purl.obolibrary.org/obo/MONDO_0056814	NCIT:C114933	
MONDO:0007843	biolink:Disease	Kabuki syndrome 1		UMLS:CN030661|OMIM:147920	mondo.json	Kabuki make-Up syndrome|Niikawa-Kuroki syndrome|KABUKI syndrome 1|Kabuki syndrome 1|KABUK1|Kabuki syndrome|Kabuki syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0007843	https://omim.org/entry/147920|UMLS:CN030661	
MONDO:0032843	biolink:Disease	oculopharyngeal myopathy with leukoencephalopathy 1		OMIM:618637	mondo.json	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1|OPML1	http://purl.obolibrary.org/obo/MONDO_0032843	https://omim.org/entry/618637	
MF:0000033	biolink:NamedThing	mental disposition	A mental disposition is a bodily disposition that is realized in a mental process. 		mondo.json		http://purl.obolibrary.org/obo/MF_0000033		
MONDO:0007844	biolink:Disease	hypogonadotropic hypogonadism 2 with or without anosmia	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene.	GARD:0003070|OMIM:147950|ICD10CM:E23.0|UMLS:C1563720|DOID:0090083	mondo.json	Kallmann syndrome 2|HH2|FGFR1 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 2 with or without anosmia|KAL2|hypogonadotropic hypogonadism caused by mutation in FGFR1	http://purl.obolibrary.org/obo/MONDO_0007844	https://omim.org/entry/147950|DOID:0090083|UMLS:C1563720	
MONDO:0032844	biolink:Disease	infantile liver failure syndrome 3		OMIM:618641	mondo.json	INFANTILE LIVER FAILURE SYNDROME 3|ILFS3	http://purl.obolibrary.org/obo/MONDO_0032844	https://omim.org/entry/618641	
MONDO:0056815	biolink:Disease	liver adenosquamous carcinoma	A rare carcinoma that arises from the intrahepatic bile ducts and is composed of malignant glandular cells and malignant squamous cells.	NCIT:C118630|UMLS:C3898586	mondo.json	liver adenosquamous carcinoma|liver adenosquamous cancer	http://purl.obolibrary.org/obo/MONDO_0056815	NCIT:C118630|UMLS:C3898586	
MONDO:0007841	biolink:Disease	coxopodopatellar syndrome	Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.	UMLS:C1840061|OMIM:147891|MESH:C535540|SCTID:720752007|Orphanet:1509|GARD:0003030|DOID:0111382	mondo.json	patella aplasia, coxa vara, tarsal synostosis|coxopodopatellar syndrome|congenital coxa vara, patella aplasia and tarsal synostosis|ischiopatellar dysplasia|SPS|small patella syndrome|Coxo-podo-patellar syndrome|ischiocoxopodopatellar syndrome|Scott-Taor syndrome|ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension|ICPPS	http://purl.obolibrary.org/obo/MONDO_0007841	Orphanet:1509|https://omim.org/entry/147891|DOID:0111382|http://identifiers.org/snomedct/720752007|http://identifiers.org/mesh/C535540|UMLS:C1840061	ordo_disease
ENVO:00003030	biolink:NamedThing	silage	A fermented, high-moisture forage that can be fed to ruminants.		mondo.json		http://purl.obolibrary.org/obo/ENVO_00003030		
MONDO:0007842	biolink:Disease	Ehlers-Danlos syndrome type 11	Ehlers-Danlos syndrome, type 11, is characterised by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance.	SCTID:71322004|MESH:C535884|Orphanet:2295|GARD:0003054|OMIM:147900|UMLS:C0268349	mondo.json	Ehlers-Danlos syndrome, type Xi|EDS XI|EDS Xi, formerly|EDS Xi|familial joint instability syndrome|EDS11|EDS 11 (formerly)|Joint instability syndrome|EDS11, formerly|familial joint laxity|articular hypermobility syndrome|familial Joint instability syndrome|JOINT laxity, familial|Ehlers-Danlos syndrome, type Xi, formerly|Ehlers-Danlos syndrome, type 11 (formerly)	http://purl.obolibrary.org/obo/MONDO_0007842	https://omim.org/entry/147900|http://identifiers.org/mesh/C535884|http://identifiers.org/snomedct/71322004|UMLS:C0268349|Orphanet:2295	ordo_disease
MONDO:0007840	biolink:Disease	internal carotid artery, spontaneous dissection of		UMLS:C1840073|OMIM:147820|MESH:C564125	mondo.json	internal carotid artery, spontaneous dissection of	http://purl.obolibrary.org/obo/MONDO_0007840	https://omim.org/entry/147820|http://identifiers.org/mesh/C564125|UMLS:C1840073	
MF:0000030	biolink:NamedThing	representation	A dependent continuant which is about a portion of reality.		mondo.json		http://purl.obolibrary.org/obo/MF_0000030		
MONDO:0020816	biolink:Disease	miliaria papulosa		SCTID:201192006	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020816	http://identifiers.org/snomedct/201192006	
MONDO:0019838	biolink:Disease	adenohypophysitis	An autoimmune disease of the pituitary gland which can present with varying degrees of pituitary hormonal impairment and/or with symptoms related to pituitary enlargement. It predominantly affects young women in pregnancy or the peripartum period.	Orphanet:95512	mondo.json	lymphocytic adenohypophysitis|adenohypophysis inflammation|inflammation of adenohypophysis|anterior pituitary hypophysitis	http://purl.obolibrary.org/obo/MONDO_0019838	Orphanet:95512	ordo_disease
MONDO:0020815	biolink:Disease	dentigerous cyst	Most common follicular odontogenic cyst. Occurs in relation to a partially erupted or unerupted tooth with at least the crown of the tooth to which the cyst is attached protruding into the cystic cavity. May give rise to an ameloblastoma and, in rare instances, undergo malignant transformation.	UMLS:C0011428|SCTID:9245008|MESH:D003803	mondo.json	Cyst, Dentigerous|dentigerous odontogenic cyst|Dentigerous odontogenic cyst|dentigerous cyst|Dentigerous Cyst|Cysts, Dentigerous|Dentigerous cyst|dentigerous cyst of jaw|Dentigerous cyst of jaw|follicular cyst of jaw|Dentigerous Cysts	http://purl.obolibrary.org/obo/MONDO_0020815	http://identifiers.org/snomedct/9245008|UMLS:C0011428|http://identifiers.org/mesh/D003803	
MONDO:0019837	biolink:Disease	atrial appendage anomaly		Orphanet:95510	mondo.json	atrial auricle anomaly	http://purl.obolibrary.org/obo/MONDO_0019837	Orphanet:95510	disease_grouping|ordo_group_of_disorders
MONDO:0020814	biolink:Disease	miliaria alba		SCTID:201191004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020814	http://identifiers.org/snomedct/201191004	
UBERON:0004482	biolink:AnatomicalEntity	musculature of lower limb			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004482		
MONDO:0020813	biolink:Disease	benign testicular sertoli cell tumor	A non-metastasizing sex cord-stromal tumor that arises from the testis. Morphologically, it is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent.	NCIT:C6522	mondo.json	benign testicular sertoli cell neoplasm|benign testicular sertoli cell tumor|benign sertoli cell tumor of testis|benign sertoli cell tumor of the testis|benign sertoli cell neoplasm of testis|benign sertoli cell neoplasm of the testis	http://purl.obolibrary.org/obo/MONDO_0020813	NCIT:C6522	
MONDO:0019839	biolink:Disease	panhypophysitis		Orphanet:95513	mondo.json	Infundibulo-panhypophysitis	http://purl.obolibrary.org/obo/MONDO_0019839	Orphanet:95513	ordo_disease
MONDO:0020812	biolink:Disease	exposure, dental pulp	The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment.	UMLS:C0011406|MESH:D003789|EFO:1001782	mondo.json	Exposure, Dental Pulp|Exposure of tooth pulp|PULP EXPOSURE DENT|EXPOSURE DENT PULP|DENT PULP EXPOSURE|Pulp Exposure, Dental|Dental Pulp Exposure	http://purl.obolibrary.org/obo/MONDO_0020812	UMLS:C0011406|http://identifiers.org/mesh/D003789	
MONDO:0019834	biolink:Disease	obsolete pituitary hormone deficiency from meningeal origin		Orphanet:95505	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019834	Orphanet:95505	ordo_group_of_disorders
UBERON:0004480	biolink:AnatomicalEntity	musculature of limb			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004480		
MONDO:0020811	biolink:Disease	mitochondrial complex III deficiency, nuclear type		OMIMPS:124000	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020811	https://omim.org/phenotypicSeries/PS124000	
MONDO:0019833	biolink:Disease	obsolete pituitary hormone deficiency from tumoral origin		UMLS:CN206780|Orphanet:95503	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019833	UMLS:CN206780|Orphanet:95503	ordo_group_of_disorders
UBERON:0004481	biolink:AnatomicalEntity	musculature of upper limb			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004481		
MONDO:0019836	biolink:Disease	congenital anomaly of hepatic vein		Orphanet:95507	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019836	Orphanet:95507	ordo_morphological_anomaly
MONDO:0020810	biolink:Disease	obsolete congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020810		
MONDO:0019835	biolink:Disease	primary hypophysitis	Immune-mediated inflammation of the pituitary gland often associated with other autoimmune diseases (e.g., hashimoto disease; graves disease; and addison disease).	ICD9:279.49|MESH:D000069281|SCTID:237706000|Orphanet:95506|ICD9:253.8|NCIT:C132055	mondo.json	lymphocytic hypophysitis|autoimmune hypophysitis	http://purl.obolibrary.org/obo/MONDO_0019835	NCIT:C132055|http://identifiers.org/snomedct/237706000|Orphanet:95506|http://identifiers.org/mesh/D000069281	disease_grouping|ordo_group_of_disorders
MONDO:0032852	biolink:Disease	myopathy, congenital, with structured cores and z-line abnormalities		OMIM:618654	mondo.json	myopathy, congenital with structured cores and z-line abnormalities|MYOCOZ|MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES|Multiple Structured Core Disease	http://purl.obolibrary.org/obo/MONDO_0032852	https://omim.org/entry/618654	
MONDO:0019830	biolink:Disease	congenital anomaly of the inferior vena cava		Orphanet:95499|ICD9:747.49|SCTID:81577001	mondo.json	congenital anomaly of the IVC|congenital anomaly of the inferior caval vein	http://purl.obolibrary.org/obo/MONDO_0019830	Orphanet:95499|http://identifiers.org/snomedct/81577001	ordo_group_of_disorders|disease_grouping
MONDO:0032853	biolink:Disease	myopathy, distal, 6, adult-onset, autosomal dominant		OMIM:618655	mondo.json	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT|MPD6|myopathy, distal, 6, adult onset	http://purl.obolibrary.org/obo/MONDO_0032853	https://omim.org/entry/618655	
MONDO:0056820	biolink:Disease	nasal cavity and paranasal sinus neoplasm	A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	NCIT:C7336|UMLS:C1334925	mondo.json	nasal cavity and paranasal sinus neoplasm	http://purl.obolibrary.org/obo/MONDO_0056820	UMLS:C1334925|NCIT:C7336	
MONDO:0056821	biolink:Disease	obsolete bronchiolitis obliterans organizing pneumonia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0056821		
MONDO:0019832	biolink:Disease	acquired pituitary hormone deficiency	An instance of hypopituitarism that is acquired during the lifetime of the individual.	ICD10CM:E23.0|Orphanet:95502	mondo.json	acquired hypopituitarism	http://purl.obolibrary.org/obo/MONDO_0019832	Orphanet:95502	ordo_group_of_disorders|disease_grouping
MONDO:0032850	biolink:Disease	neurooculocardiogenitourinary syndrome		DOID:0111675|OMIM:618652	mondo.json	NEUROOCULOCARDIOGENITOURINARY SYNDROME|NOCGUS	http://purl.obolibrary.org/obo/MONDO_0032850	https://omim.org/entry/618652|DOID:0111675	
MONDO:0019831	biolink:Disease	congenital anomaly of the coronary sinus		Orphanet:95500	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019831	Orphanet:95500	ordo_group_of_disorders|disease_grouping
MONDO:0032851	biolink:Disease	intellectual developmental disorder with impaired language and dysmorphic facies		OMIM:618653	mondo.json	IDDILF|INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES	http://purl.obolibrary.org/obo/MONDO_0032851	https://omim.org/entry/618653	
MONDO:0056822	biolink:Disease	amyotonia congenita		OMIM:205000	mondo.json	amyotonia congenita|Oppenheim disease	http://purl.obolibrary.org/obo/MONDO_0056822	https://omim.org/entry/205000	
NCBITaxon:30005	biolink:OrganismalEntity	Anoplura		GC_ID:1	mondo.json	sucking lice	http://purl.obolibrary.org/obo/NCBITaxon_30005		
UBERON:0004488	biolink:AnatomicalEntity	musculature of pes			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004488		
UBERON:0004489	biolink:AnatomicalEntity	musculature of manus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004489		
MONDO:0020818	biolink:Disease	secondary dentine	Dentin formed by normal pulp after completion of root end formation.	SCTID:59818004|UMLS:C0011434|MESH:D003809	mondo.json	SECOND DENTIN|Secondary Dentin|Reparative dentine|DENTIN SECOND|Secondary dentine|secondary dentine|sclerotic dentine|Irregular dentine|Dentin, Secondary|Tertiary dentine|reparative dentine|Irregular dentin|Secondary dentin|secondary dentin|irregular dentine|tertiary dentine|irregular dentin|Secondary Dentins|Dentins, Secondary|Sclerotic dentine	http://purl.obolibrary.org/obo/MONDO_0020818	UMLS:C0011434|http://identifiers.org/snomedct/59818004|http://identifiers.org/mesh/D003809	
MONDO:0020817	biolink:Disease	miliaria vesiculosa		SCTID:201195008	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020817	http://identifiers.org/snomedct/201195008	
UBERON:0004487	biolink:AnatomicalEntity	musculature of forelimb zeugopod			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004487		
MONDO:0056805	biolink:Disease	benign peripheral nerve granular cell tumor	A benign granular cell tumor that involves the nerve.	NCIT:C5502|UMLS:C1332530	mondo.json	benign peripheral nerve granular cell tumor|benign granular cell neoplasm of peripheral nerve|benign granular cell neoplasm of the peripheral nerve|nerve benign granular cell tumor|benign granular cell tumor of peripheral nerve|benign granular cell tumor of nerve|benign granular cell tumor of the peripheral nerve|benign peripheral nerve granular cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0056805	NCIT:C5502|UMLS:C1332530	
MONDO:0056806	biolink:Disease	non-small cell squamous lung carcinoma	A squamous cell carcinoma that arises from the lung. It is characterized by the presence of large malignant cells. It includes the clear cell and papillary variants of squamous cell carcinoma.	NCIT:C133254|DOID:0080521|SCTID:723301009	mondo.json	non-small cell squamous lung carcinoma|squamous non-small cell lung carcinoma|non-small cell squamous lung cancer	http://purl.obolibrary.org/obo/MONDO_0056806	http://identifiers.org/snomedct/723301009|NCIT:C133254|DOID:0080521	
MONDO:0007858	biolink:Disease	palmoplantar keratoderma, punctate type 1A	Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene.	OMIM:148600|DOID:0080214	mondo.json	punctate palmoplantar keratoderma type 1A|palmoplantar keratoderma, punctate type 1A|Kppp1|keratoderma, palmoplantar, punctate type IA|PPKP1A|AAGAB punctate palmoplantar keratoderma|keratosis palmoplantaris papulosa|keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type|punctate palmoplantar keratoderma caused by mutation in AAGAB|palmoplantar keratoderma, punctate type IA|palmoplantar keratoderma, punctate type 1	http://purl.obolibrary.org/obo/MONDO_0007858	https://omim.org/entry/148600|DOID:0080214	
MONDO:0032858	biolink:Disease	developmental and epileptic encephalopathy, 81		OMIM:618663	mondo.json	EIEE81|DEE81|developmental and epileptic encephalopathy 81|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81|epileptic encephalopathy, early infantile, 81	http://purl.obolibrary.org/obo/MONDO_0032858	https://omim.org/entry/618663	
MONDO:0007859	biolink:Disease	palmoplantar keratoderma i, striate, focal, or diffuse		Orphanet:369999|GARD:0009172|MESH:C536162|OMIM:148700|Orphanet:370002	mondo.json	SPPK1|palmoplantar keratoderma i, striate, focal, or diffuse|palmoplantar keratoderma I, striate, focal, or diffuse|keratoderma, palmoplantar striate form 1|striate palmoplantar keratoderma 1|keratosis palmoplantaris striata 1|keratosis palmoplantaris striata i, AD|keratoderma, palmoplantar, striate form 1|PPKS1	http://purl.obolibrary.org/obo/MONDO_0007859	https://omim.org/entry/148700|http://identifiers.org/mesh/C536162	
MONDO:0032859	biolink:Disease	spermatogenic failure 40		OMIM:618664	mondo.json	SPERMATOGENIC FAILURE 40|SPGF40	http://purl.obolibrary.org/obo/MONDO_0032859	https://omim.org/entry/618664	
MONDO:0007856	biolink:Disease	palmoplantar keratoderma-esophageal carcinoma syndrome	An inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern.	OMIM:148500|DOID:0111506|GARD:0003102|SCTID:111030006|MESH:C536164|Orphanet:2198	mondo.json	keratosis palmoplantaris with esophageal cancer|keratosis palmaris et plantaris with esophageal cancer|tylosis with esophageal cancer|palmoplantar hyperkeratosis-esophageal carcinoma syndrome|howel-Evans syndrome|tylosis - oesophageal carcinoma|palmoplantar keratoderma with esophageal cancer|keratosis palmaris Et plantaris with esophageal cancer|tylosis-oesophageal carcinoma syndrome|Bennion-Patterson syndrome|keratosis palmoplantaris-esophageal carcinoma syndrome|Howell-Evans syndrome|palmoplantar keratoderma-esophageal carcinoma syndrome|Toc	http://purl.obolibrary.org/obo/MONDO_0007856	http://identifiers.org/mesh/C536164|DOID:0111506|http://identifiers.org/snomedct/111030006|Orphanet:2198|https://omim.org/entry/148500	ordo_disease|gard_rare
MONDO:0032856	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0032856		
MONDO:0056802	biolink:Disease	synovial bursa disorder	A disease or disorder that involves the synovial bursa.	SCTID:10597006|UMLS:C0263946	mondo.json	disorder of synovial bursa|disease of synovial bursa|disorder of bursa|disease or disorder of synovial bursa|synovial bursa disease or disorder	http://purl.obolibrary.org/obo/MONDO_0056802	http://identifiers.org/snomedct/10597006|UMLS:C0263946	
MONDO:0032857	biolink:Disease	diarrhea 11, malabsorptive, congenital		OMIM:618662	mondo.json	Intractable Diarrhea of Infancy Syndrome|DIARRHEA 11, MALABSORPTIVE, CONGENITAL|DIAR11	http://purl.obolibrary.org/obo/MONDO_0032857	https://omim.org/entry/618662	
MONDO:0007857	biolink:Disease	keratosis palmaris et plantaris-clinodactyly syndrome	Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.	OMIM:148520|UMLS:C1835663|MESH:C563646|Orphanet:86919	mondo.json	palmoplantar keratoderma-clinodactyly syndrome|keratosis palmaris ET plantaris with clinodactyly	http://purl.obolibrary.org/obo/MONDO_0007857	Orphanet:86919|http://identifiers.org/mesh/C563646|UMLS:C1835663|https://omim.org/entry/148520	ordo_disease
MONDO:0007854	biolink:Disease	keratolytic winter erythema	Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission.	ICD9:695.89|UMLS:C0406756|MESH:C536155|SCTID:239064000|OMIM:148370|GARD:0008275|Orphanet:50943	mondo.json	Oudtshoorn skin disease|keratolytic WINTER erythema|keratolytic winter erythema|Oudtshoorn disease|KWE|Erythrokeratolysis hiemalis ichthyosis|Oudtshoorn skin|Erythrokeratolysis hiemalis	http://purl.obolibrary.org/obo/MONDO_0007854	http://identifiers.org/mesh/C536155|http://identifiers.org/snomedct/239064000|https://omim.org/entry/148370|Orphanet:50943|UMLS:C0406756	ordo_disease|gard_rare
MONDO:0056803	biolink:Disease	sulfur metabolism disease	A disease that has its basis in the disruption of sulfur compound metabolic process.	SCTID:123809005|UMLS:C1263724	mondo.json	disorder of sulfur metabolism|disorder of sulfur metabolic process|disorder of sulphur metabolism|sulfur compound metabolic process disease|disorder of sulfur compound metabolic process	http://purl.obolibrary.org/obo/MONDO_0056803	http://identifiers.org/snomedct/123809005|UMLS:C1263724	
MONDO:0032854	biolink:Disease	zimmermann-laband syndrome 3		OMIM:618658	mondo.json	ZLS3|ZIMMERMANN-LABAND SYNDROME 3	http://purl.obolibrary.org/obo/MONDO_0032854	https://omim.org/entry/618658	
MONDO:0007855	biolink:Disease	keratosis, familial actinic		UMLS:C2675099|OMIM:148390|MESH:C567190	mondo.json	keratosis, familial actinic	http://purl.obolibrary.org/obo/MONDO_0007855	http://identifiers.org/mesh/C567190|https://omim.org/entry/148390|UMLS:C2675099	
MONDO:0032855	biolink:Disease	neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies		OMIM:618659	mondo.json	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES|NEDDFSA	http://purl.obolibrary.org/obo/MONDO_0032855	https://omim.org/entry/618659	
MONDO:0056804	biolink:Disease	benign neoplasm of peripheral nervous system		DOID:0080320	mondo.json		http://purl.obolibrary.org/obo/MONDO_0056804	DOID:0080320	
MONDO:0007852	biolink:Disease	palmoplantar keratoderma-deafness syndrome	Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.	DOID:0111505|Orphanet:2202|OMIM:148350|MESH:C536152|GARD:0003094|UMLS:C1835672	mondo.json	diffuse palmoplantar keratoderma with deafness (subtype)|palmoplantar hyperkeratosis-hearing loss syndrome|focal palmoplantar keratoderma with sensorineural deafness (subtype)|PPK-deafness syndrome|keratoderma, palmoplantar, with deafness|palmoplantar keratoderma and sensorineural deafness|hereditary palmoplantar keratoderma with deafness (subtype)|keratoderma palmoplantar, with deafness|keratoderma palmoplantar deafness|palmoplantar hyperkeratosis-deafness syndrome|palmoplantar keratoderma-hearing loss syndrome	http://purl.obolibrary.org/obo/MONDO_0007852	DOID:0111505|UMLS:C1835672|Orphanet:2202|https://omim.org/entry/148350|http://identifiers.org/mesh/C536152	ordo_disease
MONDO:0007853	biolink:Disease	palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome		OMIM:148360|MESH:C536153|Orphanet:538574	mondo.json	axonal neuropathy with palmoplantar keratoderma|Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy|keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy	http://purl.obolibrary.org/obo/MONDO_0007853	Orphanet:538574|https://omim.org/entry/148360|http://identifiers.org/mesh/C536153	ordo_disease
UBERON:0016458	biolink:AnatomicalEntity	esophageal hiatus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016458		
MONDO:0007850	biolink:Disease	autosomal dominant keratitis-ichthyosis-hearing loss syndrome	Autosomal dominant form of KID syndrome.	DOID:0060871|OMIM:148210	mondo.json	autosomal dominant keratitis-ichthyosis-deafness syndrome|autosomal dominant KID syndrome|KID syndrome, autosomal dominant|keratitis-ichthyosis-deafness syndrome, autosomal dominant|keratitis-ichthyosis -deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0007850	DOID:0060871|https://omim.org/entry/148210	
MONDO:0044843	biolink:Disease	torsion dystonia		SCTID:431034009	mondo.json	torsion dystonia	http://purl.obolibrary.org/obo/MONDO_0044843	http://identifiers.org/snomedct/431034009	
MONDO:0007851	biolink:Disease	keratoconus 1	Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene.	MESH:C563649|UMLS:C1835677|OMIM:148300	mondo.json	keratoconus type 1|keratoconus (disease) caused by mutation in VSX1|VSX1 keratoconus (disease)|KTCN1|keratoconus 1	http://purl.obolibrary.org/obo/MONDO_0007851	http://identifiers.org/mesh/C563649|UMLS:C1835677|https://omim.org/entry/148300	
MONDO:0019819	biolink:Disease	double-orifice mitral valve		ICD9:746.89|SCTID:253402005|Orphanet:95474	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019819	http://identifiers.org/snomedct/253402005|Orphanet:95474	ordo_clinical_subtype
FOODON:00001141	biolink:NamedThing	wheat food product			mondo.json		http://purl.obolibrary.org/obo/FOODON_00001141		
NBO:0000607	biolink:NamedThing	cognitive behavior	"Behaviour related to cognitive processes." [NBO:JH]		mondo.json		http://purl.obolibrary.org/obo/NBO_0000607		
MONDO:0020805	biolink:Disease	benign basal cell neoplasm	A neoplasm composed of basal cells that remains localized and does not metastasize to other anatomic sites.	NCIT:C4743	mondo.json	benign basal cell tumor	http://purl.obolibrary.org/obo/MONDO_0020805	NCIT:C4743	
MONDO:0019827	biolink:Disease	obsolete disease associated with non-acquired combined pituitary hormone deficiency		UMLS:CN206775|Orphanet:95495	mondo.json	secondary non-acquired combined pituitary hormone deficiency	http://purl.obolibrary.org/obo/MONDO_0019827	Orphanet:95495|UMLS:CN206775	ordo_group_of_disorders
UBERON:0004473	biolink:AnatomicalEntity	musculature of face			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004473		
MONDO:0020804	biolink:Disease	basal cell carcinoma	A carcinoma involving the basal cells.	NCIT:C7586|MESH:D002280|NCIT:C156767	mondo.json	malignant basal cell neoplasm|basal cell cancer|epithelioma, basal cell	http://purl.obolibrary.org/obo/MONDO_0020804	NCIT:C7586|NCIT:C156767|http://identifiers.org/mesh/D002280	
FOODON:00001145	biolink:NamedThing	microbial food product	A food product derived from one or more microorganisms including bacteria, mold, and yeast.		mondo.json		http://purl.obolibrary.org/obo/FOODON_00001145		
UBERON:0004474	biolink:AnatomicalEntity	musculature of arm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004474		
MONDO:0019826	biolink:Disease	abnormal origin or aberrant course of coronary artery		Orphanet:95493	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019826	Orphanet:95493	disease_grouping|ordo_group_of_disorders
MONDO:0019829	biolink:Disease	congenital anomaly of superior vena cava		Orphanet:95498|ICD9:747.49|SCTID:70195006	mondo.json	congenital anomaly of the SVC|congenital anomaly of superior caval vein	http://purl.obolibrary.org/obo/MONDO_0019829	Orphanet:95498|http://identifiers.org/snomedct/70195006	ordo_group_of_disorders|disease_grouping
UBERON:0004471	biolink:AnatomicalEntity	musculature of pectoral girdle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004471		
MONDO:0020803	biolink:Disease	obsolete bundle branch block	OBSOLETE. A defect of the bundle branches or fascicles in the electrical conduction system of the heart.	SCTID:6374002	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020803	http://identifiers.org/snomedct/6374002	
MONDO:0019828	biolink:Disease	pituitary stalk interruption syndrome	Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.	GARD:0013209|NCIT:C121150|UMLS:CN206776|Orphanet:95496|UMLS:C4053775|SCTID:715727009	mondo.json	hypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary|PSIS|ectopic neurohypophysis	http://purl.obolibrary.org/obo/MONDO_0019828	NCIT:C121150|http://identifiers.org/snomedct/715727009|Orphanet:95496|UMLS:CN206776|UMLS:C4053775	ordo_morphological_anomaly|gard_rare
FOODON:00001143	biolink:NamedThing	fungus food product	A food product consisting of an edible fungi or mushroom or yeast.		mondo.json		http://purl.obolibrary.org/obo/FOODON_00001143		
MONDO:0020802	biolink:Disease	obsolete basal cell cancer	OBSOLETE. A neoplasm composed of basal cells that metastasizes to other anatomic sites.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0020802		
MONDO:0019823	biolink:Disease	premature closure of the arterial duct	Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids.	Orphanet:95486	mondo.json	premature closure of the patent ductus arteriosus	http://purl.obolibrary.org/obo/MONDO_0019823	Orphanet:95486	ordo_morphological_anomaly
GO:0140353	biolink:NamedThing	lipid export from cell	The directed movement of a lipid from a cell, into the extracellular region.		mondo.json	lipid efflux	http://purl.obolibrary.org/obo/GO_0140353		
MONDO:0020801	biolink:Disease	rectal medullary carcinoma	A rare, invasive rectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.	NCIT:C60640	mondo.json	rectal medullary carcinoma	http://purl.obolibrary.org/obo/MONDO_0020801	NCIT:C60640	
MONDO:0020800	biolink:Disease	demyelinating disease of central nervous system	Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system.	SCTID:6118003|NCIT:C34526|ICD10CM:G35-G37|GARD:0012052|UMLS:C0011302|ICD9:341.9|ICD9:341.8	mondo.json	demyelinating disorder of central nervous system|demyelinating disorders of the central nervous system|demyelinating CNS disease|demyelinating disease central nervous system (CNS)|demyelinating disease of central nervous system	http://purl.obolibrary.org/obo/MONDO_0020800	UMLS:C0011302|http://identifiers.org/snomedct/6118003|http://purl.bioontology.org/ontology/ICD10CM/G35-G37|NCIT:C34526	
MONDO:0019822	biolink:Disease	arterial duct anomaly		Orphanet:95485	mondo.json	patent ductus arteriosus anomalies	http://purl.obolibrary.org/obo/MONDO_0019822	Orphanet:95485	disease_grouping|ordo_group_of_disorders
GO:0140352	biolink:NamedThing	export from cell	The directed movement of some substance from a cell, into the extracellular region. This may occur via transport across the plasma membrane or via exocytosis.		mondo.json	efflux	http://purl.obolibrary.org/obo/GO_0140352		
UBERON:0004470	biolink:AnatomicalEntity	musculature of pelvic girdle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004470		
MONDO:0019825	biolink:Disease	congenital coronary artery aneurysm	Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure.	SCTID:204378009|Orphanet:95491	mondo.json	congenital coronary aneurysm	http://purl.obolibrary.org/obo/MONDO_0019825	Orphanet:95491|http://identifiers.org/snomedct/204378009	ordo_morphological_anomaly
MONDO:0019824	biolink:Disease	non-acquired pituitary hormone deficiency		Orphanet:95488|ICD10CM:E23.0	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019824	Orphanet:95488	disease_grouping|ordo_group_of_disorders
MONDO:0032863	biolink:Disease	spermatogenic failure 41		OMIM:618670	mondo.json	SPGF41|SPERMATOGENIC FAILURE 41	http://purl.obolibrary.org/obo/MONDO_0032863	https://omim.org/entry/618670	
MONDO:0032864	biolink:Disease	intellectual developmental disorder with speech delay, autism, and dysmorphic facies		OMIM:618672	mondo.json	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES|IDDSADF	http://purl.obolibrary.org/obo/MONDO_0032864	https://omim.org/entry/618672	
MONDO:0019821	biolink:Disease	aneurysm or dilatation of ascending aorta		Orphanet:95484	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019821	Orphanet:95484	ordo_morphological_anomaly
UBERON:0004479	biolink:AnatomicalEntity	musculature of trunk			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004479		
MONDO:0019820	biolink:Disease	univentricular cardiopathy		Orphanet:95483	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019820	Orphanet:95483	disease_grouping|ordo_group_of_disorders
MONDO:0032862	biolink:Disease	hydrocephalus, congenital communicating, 1		OMIM:618667	mondo.json	HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1|HYDCC1	http://purl.obolibrary.org/obo/MONDO_0032862	https://omim.org/entry/618667	
MONDO:0020809	biolink:Disease	benign sertoli cell tumor	A Sertoli cell tumor of the testis or the ovary which remains localized and does not metastasize to another anatomic site.	NCIT:C67012|ICDO:8630/0	mondo.json	SERTOLI CELL TUMOR, BENIGN|Benign Sertoli Cell Tumor|Benign Androblastoma	http://purl.obolibrary.org/obo/MONDO_0020809	NCIT:C67012	
MONDO:0032860	biolink:Disease	intellectual developmental disorder, autosomal recessive 72		OMIM:618665	mondo.json	MRT72|Mental Retardation, Autosomal Recessive 72|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72	http://purl.obolibrary.org/obo/MONDO_0032860	https://omim.org/entry/618665	
MONDO:0020808	biolink:Disease	testicular sertoli cell tumor	A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course.	NCIT:C4672	mondo.json	Sertoli Cell Neoplasm of Testis|Testicular Sertoli Cell Neoplasm|Sertoli Cell Neoplasm of the Testis|Testicular Sertoli Cell Tumor, Not Otherwise Specified|Sertoli Cell Tumor of Testis|Sertoli Cell Tumor of the Testis|Testicular Sertoli Cell Tumor, NOS|Testicular Sertoli Cell Tumor	http://purl.obolibrary.org/obo/MONDO_0020808	NCIT:C4672	
UBERON:0004478	biolink:AnatomicalEntity	musculature of larynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004478		
UBERON:0004475	biolink:AnatomicalEntity	musculature of hip			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004475		
MONDO:0020807	biolink:Disease	ovarian sertoli-stromal cell tumor	A sex cord-stromal tumor that arises from the ovary and is composed entirely of, or in various combinations of, Sertoli cells, Leydig cells, and fibroblast-like cells.	NCIT:C39966	mondo.json	Ovarian Sertoli-Stromal Tumor|Ovarian Sertoli-Stromal Cell Tumor	http://purl.obolibrary.org/obo/MONDO_0020807	NCIT:C39966	
MONDO:0020806	biolink:Disease	sinoatrial block	A heart block that is initiated in the sinoatrial node.	MESH:D012848|SCTID:65778007	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020806	http://identifiers.org/snomedct/65778007|http://identifiers.org/mesh/D012848	
UBERON:0004476	biolink:AnatomicalEntity	musculature of shoulder			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004476		
MONDO:0019890	biolink:Disease	non-distal trisomy 9q	Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.	SCTID:764997000|Orphanet:96112	mondo.json	non-telomeric trisomy 9q|non-distal duplication 9q|non-distal trisomy type 9q	http://purl.obolibrary.org/obo/MONDO_0019890	http://identifiers.org/snomedct/764997000|Orphanet:96112	ordo_malformation_syndrome
MONDO:0005248	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0005248		
MONDO:0005247	biolink:Disease	bacterial urinary tract infection	A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine.	NCIT:C50791|SCTID:68566005|EFO:0003103|ICD9:599.0	mondo.json	urinary tract infectious disease|urinary tract infection (disease)|UTI|infection, urinary tract|tract, infection of urinary|bacterial urinary tract infection (disease)|urinary tract infection	http://purl.obolibrary.org/obo/MONDO_0005247	NCIT:C50791|http://identifiers.org/snomedct/68566005	
MONDO:0005249	biolink:Disease	pneumonia	An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, caused by an infection in one or both of the lungs (by bacteria, viruses, fungi, or mycoplasma.). Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness.	ICD9:486|ICD9:483.8|ICD10CM:J15|ICD9:484.8|MESH:D011014|NCIT:C3333|EFO:0003106|UMLS:C0032285|DOID:552|ICD10CM:J18.9|ICD9:483|SCTID:233604007	mondo.json	acute pneumonia	http://purl.obolibrary.org/obo/MONDO_0005249	http://purl.bioontology.org/ontology/ICD10CM/J18.9|UMLS:C0032285|http://identifiers.org/snomedct/233604007|NCIT:C3333|DOID:552|http://identifiers.org/mesh/D011014	
MONDO:0005244	biolink:Disease	peripheral neuropathy	A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.	UMLS:C0442874|NCIT:C119734|NCIT:C4731|SCTID:386033004|EFO:0004149|DOID:870|MedDRA:10034606|EFO:0003100	mondo.json	neuropathy|peripheral nerve disorder|peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0005244	http://identifiers.org/snomedct/386033004|NCIT:C4731|UMLS:C0442874|NCIT:C119734|DOID:870	
MONDO:0005243	biolink:Disease	obsolete Cushing syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005243		
MONDO:0005246	biolink:Disease	osteomyelitis	An acute or chronic inflammation of the bone and its structures due to infection with pyogenic bacteria.	ICD9:730.0|DOID:1019|UMLS:C0029443|ICD9:730.20|ICD9:730.1|NCIT:C27577|GARD:0007286|ICD9:730.28|ICD9:730.97|SCTID:60168000|ICD9:730.96|MESH:D010019|EFO:0003102|ICD9:730.94|ICD9:730.01|ICD9:730.93|ICD9:730.11|ICD9:730.92|HP:0002754|ICD9:730.10	mondo.json	osteomyelitis (disease)|osteomyelitis	http://purl.obolibrary.org/obo/MONDO_0005246	UMLS:C0029443|http://identifiers.org/snomedct/60168000|http://identifiers.org/mesh/D010019|DOID:1019|NCIT:C27577	
MONDO:0005245	biolink:Disease	obsolete testicular seminoma			mondo.json	obsolete testicular seminoma (disease)	http://purl.obolibrary.org/obo/MONDO_0005245		
MONDO:0005240	biolink:Disease	kidney disorder	A disease involving the kidney.	SCTID:90708001|MESH:D007674|UMLS:C0022658|DOID:557|EFO:0003086|NCIT:C3149|ICD9:583.81	mondo.json	nephropathy|kidney disease or disorder|disorder of kidney|renal disorder|disease of kidney|disease or disorder of kidney|kidney disease|kidney disorder|renal disease	http://purl.obolibrary.org/obo/MONDO_0005240	NCIT:C3149|DOID:557|http://identifiers.org/mesh/D007674|http://identifiers.org/snomedct/90708001|UMLS:C0022658	
MONDO:0005242	biolink:Disease	empyema	An accumulation of pus in a body cavity, usually the pleural space.	MESH:D004653|NCIT:C34572|ICD9:510|EFO:0003097|SCTID:312682007	mondo.json	collection of pus	http://purl.obolibrary.org/obo/MONDO_0005242	http://identifiers.org/mesh/D004653|NCIT:C34572|http://identifiers.org/snomedct/312682007	
MONDO:0005241	biolink:Disease	obsolete adrenocortical carcinoma			mondo.json	obsolete adrenocortical carcinoma (disease)	http://purl.obolibrary.org/obo/MONDO_0005241		
MONDO:0017237	biolink:Disease	hereditary sensorimotor neuropathy with hyperelastic skin		UMLS:CN202738|OMIM:608895|Orphanet:280598|GARD:0011010	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017237	Orphanet:280598|UMLS:CN202738	gard_rare|ordo_disease
MONDO:0017238	biolink:Disease	hemoglobinopathy Toms River		Orphanet:280615	mondo.json	transient neonatal cyanosis and anemia due to Toms River Hemoglobin	http://purl.obolibrary.org/obo/MONDO_0017238	Orphanet:280615	ordo_disease
MONDO:0019899	biolink:Disease	distal monosomy 20q		Orphanet:96152	mondo.json	monosomy 20qter|telomeric deletion 20q|distal deletion 20q|distal monosomy type 20q	http://purl.obolibrary.org/obo/MONDO_0019899	Orphanet:96152	ordo_malformation_syndrome
MONDO:0017239	biolink:Disease	familial progressive hyper- and hypopigmentation	Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.	Orphanet:280628	mondo.json	FPHH	http://purl.obolibrary.org/obo/MONDO_0017239	Orphanet:280628	ordo_disease
MONDO:0019896	biolink:Disease	Kleefstra syndrome due to 9q34 microdeletion		DECIPHER:52|UMLS:CN206831|Orphanet:96147	mondo.json	Kleefstra syndrome due to monosomy 9q34|9qSTDS|9q subtelomeric deletion syndrome|Kleefstra syndrome due to del(9)(q34)|Kleefstra syndrome due to 9q subtelomeric deletion	http://purl.obolibrary.org/obo/MONDO_0019896	Orphanet:96147|UMLS:CN206831	ordo_etiological_subtype
MONDO:0017233	biolink:Disease	familial Alzheimer-like prion disease		UMLS:CN202723|Orphanet:280397|SCTID:721219005|UMLS:C4303482	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017233	UMLS:CN202723|UMLS:C4303482|http://identifiers.org/snomedct/721219005|Orphanet:280397	ordo_disease
MONDO:0017234	biolink:Disease	inherited prion disease	An instance of prion disease that is caused by an inherited modification of the individual's genome.	Orphanet:280400|UMLS:CN202725	mondo.json	familial prion disease|hereditary prion disease	http://purl.obolibrary.org/obo/MONDO_0017234	UMLS:CN202725|Orphanet:280400	disease_grouping|ordo_group_of_disorders
MONDO:0019895	biolink:Disease	distal monosomy 4q		Orphanet:96145	mondo.json	distal monosomy type 4q|distal deletion 4q|telomeric deletion 4q|monosomy 4qter	http://purl.obolibrary.org/obo/MONDO_0019895	Orphanet:96145	ordo_malformation_syndrome
MONDO:0019898	biolink:Disease	distal monosomy 14q	Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.	Orphanet:96150	mondo.json	telomeric deletion 14q|distal deletion 14q|distal monosomy type 14q	http://purl.obolibrary.org/obo/MONDO_0019898	Orphanet:96150	ordo_malformation_syndrome
MONDO:0017235	biolink:Disease	familial omphalocele syndrome with facial dysmorphism	Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.	UMLS:CN202726|Orphanet:280403	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017235	UMLS:CN202726|Orphanet:280403	ordo_malformation_syndrome
MONDO:0019897	biolink:Disease	distal monosomy 12q		Orphanet:96149	mondo.json	monosomy 12qter|distal monosomy type 12q|telomeric deletion 12q|distal deletion 12q	http://purl.obolibrary.org/obo/MONDO_0019897	Orphanet:96149	ordo_malformation_syndrome
MONDO:0017236	biolink:Disease	rapidly progressive glomerulonephritis	Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus.	NCIT:C35264|SCTID:236392004|ICD9:582.4|DOID:4776|UMLS:C0221239|ICD9:583.4|ICD9:580.4|Orphanet:280569|MedDRA:10018378	mondo.json	RPGN|crescentic glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0017236	Orphanet:280569|http://identifiers.org/snomedct/236392004|NCIT:C35264|DOID:4776|UMLS:C0221239	ordo_disease
NCBITaxon:140713	biolink:OrganismalEntity	Tunga		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_140713		
PATO:0002182	biolink:NamedThing	molecular quality	A quality which inheres in a molecular entity, a single molecule, atom, ion, radical etc.		mondo.json	relational molecular quality	http://purl.obolibrary.org/obo/PATO_0002182		
MONDO:0019892	biolink:Disease	distal monosomy 7p		Orphanet:96126	mondo.json	monosomy 7pter|distal monosomy type 7p|distal deletion 7p|telomeric deletion 7p	http://purl.obolibrary.org/obo/MONDO_0019892	Orphanet:96126	ordo_malformation_syndrome
MONDO:0019891	biolink:Disease	monosomy 22		Orphanet:96123|NCIT:C36461|UMLS:C0795878	mondo.json	monosomy type 22|deletion 22|Del(22)	http://purl.obolibrary.org/obo/MONDO_0019891	UMLS:C0795878|Orphanet:96123	ordo_malformation_syndrome
MONDO:0017230	biolink:Disease	autosomal semi-dominant severe lipodystrophic laminopathy		Orphanet:280365|UMLS:CN202719	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017230	UMLS:CN202719|Orphanet:280365	ordo_disease
MONDO:0017231	biolink:Disease	erythropoietic uroporphyria associated with myeloid malignancy		GARD:0010948|Orphanet:280379	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017231	Orphanet:280379	gard_rare|ordo_disease
MONDO:0019894	biolink:Disease	obsolete non-distal monosomy 7p		Orphanet:96136	mondo.json	non-distal monosomy type 7p|non-telomeric monosomy 7p|non-distal deletion 7p	http://purl.obolibrary.org/obo/MONDO_0019894	Orphanet:96136	
MONDO:0017232	biolink:Disease	recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.	Orphanet:280384	mondo.json	IDMDC	http://purl.obolibrary.org/obo/MONDO_0017232	Orphanet:280384	ordo_disease
MONDO:0019893	biolink:Disease	distal monosomy 19p13.3	Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).	Orphanet:96129	mondo.json	telomeric deletion 19p|distal deletion 19p	http://purl.obolibrary.org/obo/MONDO_0019893	Orphanet:96129	ordo_malformation_syndrome
PATO:0002181	biolink:NamedThing	displaced	A positional quality inhering in a bearer by virtue the bearer's being changed in position.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002181		
MONDO:0005259	biolink:Disease	Asperger syndrome	A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism.	DOID:0050432|EFO:0003757|SCTID:23560001|NCIT:C97159|GARD:0005855|MESH:D020817|Orphanet:1162	mondo.json	autism spectrum disorder without disorder of intellectual development and with mild or no impairment of functional language|asperger syndrome, susceptibility to|ASPG	http://purl.obolibrary.org/obo/MONDO_0005259	http://identifiers.org/snomedct/23560001|http://identifiers.org/mesh/D020817|Orphanet:1162|DOID:0050432|NCIT:C97159	
MONDO:0005258	biolink:Disease	autism spectrum disorder	A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.	EFO:0003759|SCTID:408856003|EFO:0003756|DOID:0060041|NCIT:C88412|Orphanet:106|SCTID:231536004|DOID:0060042	mondo.json	autistic spectrum disorder|autism spectrum disorder|atypical autism|pervasive developmental disorder - not otherwise specified|pervasive developmental disorders|PDD	http://purl.obolibrary.org/obo/MONDO_0005258	Orphanet:106|NCIT:C88412|DOID:0060041|http://identifiers.org/snomedct/408856003	
MONDO:0005255	biolink:Disease	mild heart failure	Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity.	EFO:0003147|Wikipedia:New_York_Heart_Association_Functional_Classification	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005255		
MONDO:0005254	biolink:Disease	symptomatic heart failure	A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exerciseb& etc	EFO:0003146	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005254		
MF:0000061	biolink:NamedThing	orgasm	Orgasm is the sudden discharge of accumulated sexual tension during the sexual response cycle, resulting in rhythmic muscular contractions in the pelvic region characterized by sexual pleasure.  http://en.wikipedia.org/wiki/Orgasm		mondo.json		http://purl.obolibrary.org/obo/MF_0000061		
MONDO:0005257	biolink:Disease	advanced heart failure	Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients.	Wikipedia:New_York_Heart_Association_Functional_Classification|EFO:0003149	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005257		
MONDO:0020871	biolink:Disease	obsolete name syndrome		Orphanet:623	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020871	Orphanet:623	
MONDO:0005256	biolink:Disease	moderate heart failure	Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20b100 m). Patients with moderate heart failure are comfortable only at rest.	EFO:0003148|Wikipedia:New_York_Heart_Association_Functional_Classification	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005256		
MONDO:0005251	biolink:Disease	obsolete pauciarticular juvenile rheumatoid arthritis	OBSOLETE. A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children.	EFO:0003114|ICD10CM:M08.4|SCTID:74391003|ICD9:714.32	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005251	http://identifiers.org/snomedct/74391003|http://purl.bioontology.org/ontology/ICD10CM/M08.4	
MONDO:0005250	biolink:Disease	placental villitis	Inflammatory process that involves the chorionic villi (villitis) of the placenta.	SCTID:388604008|UMLS:C1270169|EFO:0003110	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005250	UMLS:C1270169|http://identifiers.org/snomedct/388604008	
CHEBI:33608	biolink:ChemicalSubstance	hydrogen molecular entity			mondo.json	hydrogen molecular entities|hydrogen compounds	http://purl.obolibrary.org/obo/CHEBI_33608		
MONDO:0005253	biolink:Disease	high output heart failure	High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal.	UMLS:C0221045|SCTID:10091002|Wikipedia:High-output_cardiac_failure|EFO:0003145	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005253	http://identifiers.org/snomedct/10091002|UMLS:C0221045	
MONDO:0005252	biolink:Disease	heart failure	Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction.	SCTID:84114007|MESH:D006333|ICD9:428|NCIT:C50577|ICD9:428.9|EFO:0003144|UMLS:CN236639	mondo.json	cardiac failure|heart failure|cardiac insufficiency|insufficiency, Cardiac|failure, heart	http://purl.obolibrary.org/obo/MONDO_0005252	http://identifiers.org/snomedct/84114007|NCIT:C50577|UMLS:CN236639|http://identifiers.org/mesh/D006333	
PATO:0002198	biolink:NamedThing	quality of a substance	A quality inhering in a bearer by virtue of its constitution.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002198		
MONDO:0017226	biolink:Disease	Pelizaeus-Merzbacher-like disease	Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD).	SCTID:717042001|GARD:0012300|Orphanet:280270	mondo.json	PMLD	http://purl.obolibrary.org/obo/MONDO_0017226	Orphanet:280270|http://identifiers.org/snomedct/717042001	ordo_disease|gard_rare
MONDO:0019889	biolink:Disease	distal trisomy 22q	Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.	Orphanet:96109|SCTID:764512003	mondo.json	distal duplication 22q|telomeric duplication 22q|distal trisomy type 22q|trisomy 22qter	http://purl.obolibrary.org/obo/MONDO_0019889	http://identifiers.org/snomedct/764512003|Orphanet:96109	ordo_malformation_syndrome
MONDO:0017227	biolink:Disease	autoimmune pancreatitis type 1	Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease.	Orphanet:280302|UMLS:CN202712|SCTID:722872000|UMLS:C4302243|EFO:1000780|PMID:25985088	mondo.json	IgG4-related pancreatitis|AIP type 1|autoimmune pancreatitis type 1|lymphoplasmacytic sclerosing pancreatitis	http://purl.obolibrary.org/obo/MONDO_0017227	http://identifiers.org/snomedct/722872000|Orphanet:280302|UMLS:CN202712|UMLS:C4302243	ordo_clinical_subtype
MONDO:0019888	biolink:Disease	distal trisomy 20q	Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.	Orphanet:96107|SCTID:764500002	mondo.json	distal trisomy type 20q|trisomy 20qter|distal duplication 20q|telomeric duplication 20q	http://purl.obolibrary.org/obo/MONDO_0019888	http://identifiers.org/snomedct/764500002|Orphanet:96107	ordo_malformation_syndrome
MONDO:0020866	biolink:Disease	nasopharyngeal diphtheria	Infection of the nasopharynx by Corynebacterium diphtheriae.	SCTID:75589004|NCIT:C34547|UMLS:C0012558|ICD9:032.1	mondo.json	nasopharyngeal diphtheria|Nasopharyngeal Diphtheria|Nasopharyngeal diphtheria	http://purl.obolibrary.org/obo/MONDO_0020866	NCIT:C34547|UMLS:C0012558|http://identifiers.org/snomedct/75589004	
MONDO:0017228	biolink:Disease	autoimmune pancreatitis type 2	Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice.	Orphanet:280315|UMLS:CN202713	mondo.json	duct-centric pancreatitis|AIP type 2	http://purl.obolibrary.org/obo/MONDO_0017228	Orphanet:280315|UMLS:CN202713	ordo_clinical_subtype
MONDO:0017229	biolink:Disease	distal monosomy 12p	Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.	Orphanet:280325|UMLS:CN202714	mondo.json	distal monosomy type 12p|12p13.33 microdeletion syndrome|Del(12)(p13.33)|distal deletion 12p	http://purl.obolibrary.org/obo/MONDO_0017229	Orphanet:280325|UMLS:CN202714	ordo_malformation_syndrome
MONDO:0017222	biolink:Disease	Pelizaeus-Merzbacher disease, classic form	The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.	SCTID:87607002|Orphanet:280219	mondo.json	classic PMD	http://purl.obolibrary.org/obo/MONDO_0017222	http://identifiers.org/snomedct/87607002|Orphanet:280219	ordo_clinical_subtype
MONDO:0019885	biolink:Disease	distal trisomy 11q	Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported.	SCTID:764447009|MESH:C538294|Orphanet:96103	mondo.json	distal duplication 11q|telomeric duplication 11q|distal trisomy type 11q|trisomy 11qter	http://purl.obolibrary.org/obo/MONDO_0019885	http://identifiers.org/snomedct/764447009|http://identifiers.org/mesh/C538294|Orphanet:96103	ordo_malformation_syndrome
MONDO:0017223	biolink:Disease	Pelizaeus-Merzbacher disease, transitional form	The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD.	Orphanet:280224	mondo.json	transitional PMD	http://purl.obolibrary.org/obo/MONDO_0017223	Orphanet:280224	ordo_clinical_subtype
MONDO:0019884	biolink:Disease	distal trisomy 10q	Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.	SCTID:718689000|MESH:C538087|Orphanet:96102	mondo.json	distal duplication 10q|telomeric duplication 10q|distal trisomy type 10q|trisomy 10qter	http://purl.obolibrary.org/obo/MONDO_0019884	http://identifiers.org/mesh/C538087|Orphanet:96102|http://identifiers.org/snomedct/718689000	ordo_malformation_syndrome
MONDO:0017224	biolink:Disease	Pelizaeus-Merzbacher disease in female carriers	Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22).	UMLS:CN202706|Orphanet:280229	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017224	Orphanet:280229|UMLS:CN202706	ordo_clinical_subtype
MONDO:0019887	biolink:Disease	distal trisomy 16q	Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.	SCTID:764459008|Orphanet:96106	mondo.json	distal duplication 16q|telomeric duplication 16q|distal trisomy type 16q|trisomy 16qter	http://purl.obolibrary.org/obo/MONDO_0019887	http://identifiers.org/snomedct/764459008|Orphanet:96106	ordo_malformation_syndrome
MONDO:0019886	biolink:Disease	distal trisomy 13q	Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.	SCTID:764454003|Orphanet:96105	mondo.json	telomeric duplication 13q|distal trisomy type 13q|trisomy 13qter|distal duplication 13q	http://purl.obolibrary.org/obo/MONDO_0019886	Orphanet:96105|http://identifiers.org/snomedct/764454003	ordo_malformation_syndrome
MONDO:0017225	biolink:Disease	null syndrome	The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.	UMLS:CN202707|Orphanet:280234	mondo.json	PLP1 null syndrome|Pelizaeus-Merzbacher disease, null syndrome	http://purl.obolibrary.org/obo/MONDO_0017225	Orphanet:280234|UMLS:CN202707	ordo_clinical_subtype
MONDO:0019881	biolink:Disease	distal trisomy 6q	Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported.	SCTID:763275001|MESH:C537810|Orphanet:96098	mondo.json	telomeric duplication 6q|distal duplication 6q|distal trisomy type 6q|trisomy 6qter	http://purl.obolibrary.org/obo/MONDO_0019881	http://identifiers.org/snomedct/763275001|http://identifiers.org/mesh/C537810|Orphanet:96098	ordo_malformation_syndrome
MONDO:0019880	biolink:Disease	distal trisomy 5q	Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).	SCTID:763274002|Orphanet:96097	mondo.json	telomeric duplication 5q|distal trisomy type 5q|distal duplication 5q|trisomy 5qter	http://purl.obolibrary.org/obo/MONDO_0019880	http://identifiers.org/snomedct/763274002|Orphanet:96097	ordo_malformation_syndrome
MONDO:0019883	biolink:Disease	distal trisomy 9q	Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.	SCTID:764520001|Orphanet:96101	mondo.json	distal trisomy type 9q|trisomy 9qter|telomeric duplication 9q|distal duplication 9q	http://purl.obolibrary.org/obo/MONDO_0019883	Orphanet:96101|http://identifiers.org/snomedct/764520001	ordo_malformation_syndrome
MONDO:0017220	biolink:Disease	laryngotracheoesophageal cleft type 0	Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course.	UMLS:CN202702|Orphanet:280205	mondo.json	laryngo-tracheo-esophageal cleft type 0|LTEC0	http://purl.obolibrary.org/obo/MONDO_0017220	UMLS:CN202702|Orphanet:280205	ordo_clinical_subtype
MONDO:0017221	biolink:Disease	Pelizaeus-Merzbacher disease, connatal form	The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD.	UMLS:CN202703|Orphanet:280210	mondo.json	connatal PMD|severe PMD|Pelizaeus-Merzbacher disease type II	http://purl.obolibrary.org/obo/MONDO_0017221	UMLS:CN202703|Orphanet:280210	ordo_clinical_subtype
MONDO:0019882	biolink:Disease	distal trisomy 8q	Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures).	Orphanet:96100|SCTID:763277009	mondo.json	trisomy 8qter|telomeric duplication 8q|distal duplication 8q|distal trisomy type 8q	http://purl.obolibrary.org/obo/MONDO_0019882	http://identifiers.org/snomedct/763277009|Orphanet:96100	ordo_malformation_syndrome
MONDO:0032805	biolink:Disease	hypopigmentation, organomegaly, and delayed myelination and development		OMIM:618541	mondo.json	HOD|HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT	http://purl.obolibrary.org/obo/MONDO_0032805	https://omim.org/entry/618541	
MONDO:0032806	biolink:Disease	trichothiodystrophy 7, nonphotosensitive		OMIM:618546	mondo.json	TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE|TTD7	http://purl.obolibrary.org/obo/MONDO_0032806	https://omim.org/entry/618546	
HP:0100502	biolink:PhenotypicFeature	Vitamin B12 deficiency		MSH:D014806|UMLS:C0042847|SNOMEDCT_US:190634004	mondo.json	Vitamin B12 deficiency	http://purl.obolibrary.org/obo/HP_0100502		
MONDO:0005229	biolink:Disease	bacterial infectious disease with sepsis	An infectious disease caused by bacteria causing sepsis.	SCTID:5758002|ICD9:790.7|EFO:0003033|MESH:D016470|DOID:0040085|UMLS:C0004610|Wikipedia:Bacteremia	mondo.json	Bacteremias|bacterial sepsis|symptomatic bacteremia|bacteremia	http://purl.obolibrary.org/obo/MONDO_0005229	DOID:0040085|http://identifiers.org/mesh/D016470|UMLS:C0004610|http://identifiers.org/snomedct/5758002	
MONDO:0032803	biolink:Disease	immunodeficiency 64		OMIM:618534	mondo.json	IMMUNODEFICIENCY 64|IMD64	http://purl.obolibrary.org/obo/MONDO_0032803	https://omim.org/entry/618534	
MONDO:0032804	biolink:Disease	ectodermal dysplasia 15, hypohidrotic/hair type		OMIM:618535|DOID:0111651	mondo.json	ECTD15|ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE	http://purl.obolibrary.org/obo/MONDO_0032804	DOID:0111651|https://omim.org/entry/618535	
MF:0000075	biolink:NamedThing	mental quality	A mental quality is a bodily quality that inheres in those structures of the extended organism that are essential for mental functioning.		mondo.json		http://purl.obolibrary.org/obo/MF_0000075		
MONDO:0007889	biolink:Disease	obsolete lentigines			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007889		
MONDO:0005226	biolink:Disease	obsolete acute basophilic leukemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005226		
MONDO:0032801	biolink:Disease	erythrokeratodermia variabilis et progressiva 6		OMIM:618531	mondo.json	EKVP6|ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6	http://purl.obolibrary.org/obo/MONDO_0032801	https://omim.org/entry/618531	
MONDO:0032802	biolink:Disease	hearing loss, autosomal dominant 37		OMIM:618533	mondo.json	deafness, autosomal dominant 37|DFNA37|DEAFNESS, AUTOSOMAL DOMINANT 37	http://purl.obolibrary.org/obo/MONDO_0032802	https://omim.org/entry/618533	
MF:0000076	biolink:NamedThing	intentional modality	A structural capacity that shapes how an object of intentionality is represented for the subject.		mondo.json		http://purl.obolibrary.org/obo/MF_0000076		
MONDO:0005225	biolink:Disease	obsolete acute myeloblastic leukemia with maturation			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005225		
MONDO:0007887	biolink:Disease	leiomyoma of vulva and esophagus		GARD:0010097|UMLS:C1835488|MESH:C537006|OMIM:150700	mondo.json	leiomyomatosis, esophagogastric and vulvar|leiomyoma of vulva and esophagus|esophagogastric and vulvar leiomyomatosis	http://purl.obolibrary.org/obo/MONDO_0007887	UMLS:C1835488|http://identifiers.org/mesh/C537006|https://omim.org/entry/150700	gard_rare
MONDO:0005228	biolink:Disease	obsolete anaplastic large cell lymphoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005228		
MONDO:0005227	biolink:Disease	abscess	An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body.	EFO:0003030|ICD9:682.9|ICD9:682.8|Wikipedia:Abscess|MESH:D000038|UMLS:C0000833|SCTID:128477000|NCIT:C26686	mondo.json	abscess (disease)	http://purl.obolibrary.org/obo/MONDO_0005227	http://identifiers.org/snomedct/128477000|NCIT:C26686|http://identifiers.org/mesh/D000038|UMLS:C0000833	
MONDO:0007888	biolink:Disease	hereditary leiomyomatosis and renal cell cancer	Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.	NCIT:C51302|GARD:0010096|Orphanet:523|UMLS:CN239164|MESH:C535516|UMLS:CN073087|UMLS:C1708350|GARD:0003218|OMIM:150800	mondo.json	leiomyoma, multiple cutaneous|hereditary multiple cutaneous leiomyomas|HLRCC|leiomyomatosis and renal cell cancer, hereditary|hereditary leiomyomatosis|multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma|LRCC|leiomyomatosis familial|multiple cutaneous leiomyomata|MCUL|hereditary leiomyomatosis with renal carcinoma|multiple cutaneous and uterine leiomyomas|hereditary leiomyomatosis and renal cell cancer syndrome|familial leiomyomatosis|multiple cutaneous and uterine leiomyomata|hereditary leiomyomatosis and renal cell carcinoma|familial leiomyomatosis and renal cell cancer|hereditary leiomyomatosis and renal cell cancer|familial leiomyomatosis cutis et uteri|familial multiple cutaneous leiomyomas|leiomyomatosis and renal cell cancer|Reed's syndrome|familial leiomyomatosis with renal carcinoma|Reed syndrome	http://purl.obolibrary.org/obo/MONDO_0007888	UMLS:CN239164|UMLS:C1708350|UMLS:CN073087|NCIT:C51302|Orphanet:523|http://identifiers.org/mesh/C535516|https://omim.org/entry/150800	ordo_disease|gard_rare
MONDO:0032800	biolink:Disease	robinow syndrome, autosomal recessive 2		OMIM:618529	mondo.json	RRS2|ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2	http://purl.obolibrary.org/obo/MONDO_0032800	https://omim.org/entry/618529	
CHR:9606-chr16p13.11	biolink:NamedThing	16p13.11 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr16p13.11		
MONDO:0007885	biolink:Disease	Legg-Calve-Perthes disease	A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible.	GARD:0006874|OMIM:150600|DOID:14415|NCIT:C34766|EFO:0007341|MedDRA:10034735|Orphanet:2380|UMLS:C0023234|SCTID:15739006|MESH:D007873	mondo.json	osteochondritis of the capital femoral epiphysis|Calve - Perthes' disease|aseptic necrosis of the capital femoral epiphysis|pseudocoxalgia|Pseudocoxalgia|juvenile osteochondrosis of hip and pelvis|Lcp|Perthes disease|Legg-Perthes disease|Legg-CALVE-Perthes disease|Legg-Calve-Perthes syndrome|Osteochondrosis of the capital femoral epiphysis|Legg-Calve-Perthes disease|Legg-Calve-Perthes symptom|juvenile osteochond-hip/pelvis|osteochondrosis of Legg-Calve-Perthes|osteochondritis deformans|Perthe's disease|coxa plana|LCPD|juvenile osteochondrosis of hip and/or pelvis|Legg-Calvé-Perthes disease	http://purl.obolibrary.org/obo/MONDO_0007885	Orphanet:2380|DOID:14415|NCIT:C34766|https://omim.org/entry/150600|http://identifiers.org/snomedct/15739006|UMLS:C0023234|http://identifiers.org/mesh/D007873	gard_rare|ordo_disease
MONDO:0020863	biolink:Disease	laryngeal diphtheria	Infection of the larynx by Corynebacterium diphtheriae.	SCTID:50215002|ICD9:032.3|NCIT:C34546|UMLS:C0012557	mondo.json	laryngeal diphtheria|Diphtheritic laryngotracheitis|Laryngeal Diphtheria|diphtheritic laryngotracheitis|Laryngeal diphtheria	http://purl.obolibrary.org/obo/MONDO_0020863	http://identifiers.org/snomedct/50215002|NCIT:C34546|UMLS:C0012557	
MONDO:0005222	biolink:Disease	obsolete acute megakaryoblastic leukaemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005222		
MONDO:0007886	biolink:Disease	uterine corpus leiomyoma	A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	UMLS:C2242776|OMIM:150699|NCIT:C3434|ICD9:218.9|HP:0000131|ICD9:218|UMLS:C0042133|SCTID:95315005|MESH:D047708|DOID:13223|EFO:0000731|ONCOTREE:ULM|NCIT:C7052	mondo.json	leiomyoma of uterine corpus|leiomyoma of the corpus uteri|uterine body fibroid|fibroid of corpus uteri|fibroid of body of uterus|leiomyoma of the body of uterus|body of uterus leiomyoma|fibroid of uterine corpus|leiomyoma of the uterine corpus|UL|plexiform leiomyoma|fibroid of the body of uterus|fibroid of the corpus uteri|fibroid of the uterine corpus|uterine leiomyoma|leiomyoma of uterine body|leiomyoma of the uterine body|fibroid of uterine body|leiomyoma of corpus uteri|fibroid of the uterine body|corpus uteri leiomyoma|body of uterus fibroid|uterine corpus leiomyoma|corpus uteri fibroid|uterine corpus fibroid|uterine fibroid|uterine corpus leiomyomata|leiomyoma, uterine|uterus fibroma|uterine body leiomyoma|leiomyoma of body of uterus	http://purl.obolibrary.org/obo/MONDO_0007886	NCIT:C3434|http://identifiers.org/snomedct/95315005|UMLS:C0042133|UMLS:C2242776|DOID:13223|https://omim.org/entry/150699	
MONDO:0005221	biolink:Disease	renal pelvis urothelial carcinoma	A carcinoma that arises from the transitional epithelium of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas.	UMLS:C0238410|NCIT:C7355|DOID:5974|SCTID:408642003|EFO:0003017|ICD9:189.0	mondo.json	transitional cell carcinoma of renal pelvis|renal pelvis urothelial cancer|transitional cell carcinoma of the renal pelvis|renal pelvis transitional cell carcinoma|urothelial cell carcinoma of the renal pelvis|urothelial cell carcinoma of renal pelvis|renal pelvis urothelial carcinoma|kidney renal pelvis urothelial cancer	http://purl.obolibrary.org/obo/MONDO_0005221	http://identifiers.org/snomedct/408642003|DOID:5974|NCIT:C7355	
MONDO:0005224	biolink:Disease	acute myeloblastic leukemia without maturation	An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001)	NCIT:C3249|SCTID:359640008|ICDO:9873/3|GARD:0000526|EFO:0003027|Orphanet:98833|ONCOTREE:AWM	mondo.json	acute M1 myeloid leukemia|acute myeloid leukemia without maturation (FAB M1)|acute granulocytic leukemia without maturation|M1 acute myelocytic leukemia without maturation|M1 acute myelogenous leukemia without maturation|M1 acute myeloblastic leukemia|M1 acute granulocytic leukemia without maturation|M1 acute myeloid leukemia without maturation|M1 acute myeloid leukemia|AML without maturation|M1 acute myeloblastic leukemia without maturation|M1 acute granulocytic leukemia|acute myelogenous leukemia without maturation|M1 acute myelogenous leukemia|acute myeloblastic leukemia M1|AWM|FAB M1|acute myeloblastic leukemia type 1|acute myeloid leukemia without maturation|AML M1|M1 acute myelocytic leukemia|acute myelocytic leukemia without maturation	http://purl.obolibrary.org/obo/MONDO_0005224	NCIT:C3249|http://identifiers.org/snomedct/359640008|Orphanet:98833	gard_rare|ordo_disease
MONDO:0007883	biolink:Disease	periodic fever, immunodeficiency, and thrombocytopenia syndrome		OMIM:150550|ICD9:288.09|MESH:C562721|UMLS:C0272174|SCTID:71436005	mondo.json	lazy leukocyte syndrome	http://purl.obolibrary.org/obo/MONDO_0007883	http://identifiers.org/mesh/C562721|UMLS:C0272174|http://identifiers.org/snomedct/71436005|https://omim.org/entry/150550	
MF:0000073	biolink:NamedThing	intentionality	Intentionality is the fundamental quality of conscious mental processes of always having content, of being directed towards, or about something.		mondo.json		http://purl.obolibrary.org/obo/MF_0000073		
MONDO:0007884	biolink:Disease	leg ulcers, familial, of juvenile onset		UMLS:C1835489|MESH:C563632|OMIM:150590	mondo.json	leg ulcers, familial, of juvenile onset	http://purl.obolibrary.org/obo/MONDO_0007884	http://identifiers.org/mesh/C563632|UMLS:C1835489|https://omim.org/entry/150590	
MONDO:0020860	biolink:Disease	faucial diphtheria	Infection of the fauces by Corynebacterium diphtheriae.	SCTID:3419005|NCIT:C34545|UMLS:C0012556|ICD9:032.0	mondo.json	faucial diphtheria|Diphtheritic membrane|Faucial Diphtheria|diphtheritic membrane|Faucial diphtheria|Diphtheritic membranous angina|diphtheritic membranous angina	http://purl.obolibrary.org/obo/MONDO_0020860	NCIT:C34545|http://identifiers.org/snomedct/3419005|UMLS:C0012556	
MONDO:0005223	biolink:Disease	acute myeloid leukemia with minimal differentiation	An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001)	ICDO:9872/3|UMLS:C0522631|ONCOTREE:AMLMD|Orphanet:98832|EFO:0003026|NCIT:C8460	mondo.json	acute myeloid leukemia with minimal differentiation|acute myeloid leukemia with minimal differentiation (MO)|M0 myeloid leukemia with minimal differentiation|acute myelocytic leukemia with minimal differentiation|M0 myeloid leukemia|acute myeloblastic leukemia, minimally differentiated|M0 acute myeloblastic leukemia|AMLMD|M0 acute myelogenous leukemia|acute myeloblastic leukemia with minimal differentiation|M0 acute granulocytic leukemia with minimal differentiation|M0 acute granulocytic leukemia|M0 acute myelogenous leukemia with minimal differentiation|AML M0|acute myeloid leukemia, minimally differentiated|AML with minimal differentiation|minimally differentiated acute myeloblastic leukemia|acute myelogenous leukemia with minimal differentiation|M0 acute myelocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0005223	UMLS:C0522631|Orphanet:98832|NCIT:C8460	ordo_disease
MF:0000074	biolink:NamedThing	bodily quality	A bodily quality is a quality that inheres in some extended organism.		mondo.json		http://purl.obolibrary.org/obo/MF_0000074		
MONDO:0007881	biolink:Disease	tooth agenesis, selective, 4	Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene.	MESH:C563634|OMIM:150400	mondo.json	STHAG4|tooth agenesis, selective, 4, with or without ectodermal dysplasia|WNT10A tooth agenesis|tooth agenesis, selective, 4|tooth agenesis, selective, type 4|tooth agenesis caused by mutation in WNT10A|lateral incisors, pegged or missing|lateral incisors, absence of|succedaneous teeth, agenesis of	http://purl.obolibrary.org/obo/MONDO_0007881	https://omim.org/entry/150400|http://identifiers.org/mesh/C563634	
MONDO:0032809	biolink:Disease	hepatitis, fulminant viral, susceptibility to		OMIM:618549	mondo.json	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO|FVH	http://purl.obolibrary.org/obo/MONDO_0032809	https://omim.org/entry/618549	
FOODON:00001173	biolink:NamedThing	plant seed food product			mondo.json		http://purl.obolibrary.org/obo/FOODON_00001173		
MONDO:0007882	biolink:Disease	lattice degeneration of retina leading to retinal detachment		MESH:C563633|UMLS:C1835491|OMIM:150500	mondo.json	lattice degeneration of retina leading to retinal detachment	http://purl.obolibrary.org/obo/MONDO_0007882	UMLS:C1835491|https://omim.org/entry/150500|http://identifiers.org/mesh/C563633	
MONDO:0005220	biolink:Disease	collecting duct carcinoma	A carcinoma that arises from epithelial cells of the collecting duct of renal tubule	ONCOTREE:CDRCC|GARD:0009573|NCIT:C6194|DOID:4464|UMLS:C1266044|EFO:0003016|ICDO:8319/3|Orphanet:247203	mondo.json	carcinoma of the collecting ducts of Bellini|renal medullary carcinoma|carcinoma of collecting ducts of Bellini|renal carcinoma, collecting duct type|Bellini’s duct carcinoma|kidney collecting duct carcinoma|Bellini duct carcinoma|carcinoma of renal collecting duct|collecting duct renal cell carcinoma|collecting duct renal cancer|renal collecting duct carcinoma|cDC|carcinoma of kidney collecting duct|collecting duct carcinoma of the kidney|carcinoma of the kidney collecting duct|Bellini carcinoma|carcinoma of collecting duct of renal tubule|BDC|collecting duct of renal tubule carcinoma|carcinoma of the renal collecting duct|collecting duct carcinoma	http://purl.obolibrary.org/obo/MONDO_0005220	Orphanet:247203|UMLS:C1266044|DOID:4464|NCIT:C6194	ordo_disease
MONDO:0032807	biolink:Disease	neurodevelopmental disorder with visual defects and brain anomalies		OMIM:618547	mondo.json	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES|NEDVIBA	http://purl.obolibrary.org/obo/MONDO_0032807	https://omim.org/entry/618547	
MONDO:0007880	biolink:Disease	congenital laryngeal web	Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.	MESH:C563636|OMIM:150360|NCIT:C98970|SCTID:444921008|Orphanet:2374|GARD:0002446|MedDRA:10023871|MESH:C537676	mondo.json	gay Feinmesser Cohen syndrome|Laryngeal web|laryngeal web, familial|laryngeal web, congenital heart disease and low stature|subglottic web|glottic web, congenital anterior|subglottic Bar|subglottic bar, congenital heart disease and low stature	http://purl.obolibrary.org/obo/MONDO_0007880	NCIT:C98970|Orphanet:2374|http://identifiers.org/mesh/C537676|https://omim.org/entry/150360|http://identifiers.org/snomedct/444921008|http://identifiers.org/mesh/C563636	gard_rare|ordo_malformation_syndrome
MONDO:0032808	biolink:Disease	developmental and epileptic encephalopathy, 77		OMIM:618548	mondo.json	glycosylphosphatidylinositol biosynthesis defect 19|epileptic encephalopathy, early infantile, 77|multiple congenital anomalies-hypotonia-seizures syndrome 4|EIEE77|DEE77	http://purl.obolibrary.org/obo/MONDO_0032808	https://omim.org/entry/618548	
FOODON:00001172	biolink:NamedThing	nut food product		SUBSET_SIREN:F16972	mondo.json		http://purl.obolibrary.org/obo/FOODON_00001172		
MONDO:0017219	biolink:Disease	microform holoprosencephaly	Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage.	UMLS:CN236719|ICD10CM:Q04.2|OMIM:157170|Orphanet:280200|UMLS:CN202701|DOID:0111380	mondo.json	Microform HPE|HoloprosencC)phalie, minor form|Holoprosencéphalie, minor form|HPE, minor form|HPE-L|holoprosencephaly-like	http://purl.obolibrary.org/obo/MONDO_0017219	UMLS:CN236719|Orphanet:280200|UMLS:CN202701|DOID:0111380	ordo_malformation_syndrome
MONDO:0020858	biolink:Disease	mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5		OMIM:618120	mondo.json	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5|Mitochondrial Complex 5 (ATP Synthase) Deficiency, ATP5F1D Type|mitochondrial complex v (atp synthase) deficiency|MC5DN5	http://purl.obolibrary.org/obo/MONDO_0020858	https://omim.org/entry/618120	
MONDO:0020857	biolink:Disease	ovarian dysgenesis 7		DOID:0080499|OMIM:618117	mondo.json	OVARIAN DYSGENESIS 7|ODG7	http://purl.obolibrary.org/obo/MONDO_0020857	https://omim.org/entry/618117|DOID:0080499	
FOODON:00001176	biolink:NamedThing	invertebrate animal food product			mondo.json		http://purl.obolibrary.org/obo/FOODON_00001176		
MONDO:0019878	biolink:Disease	3q26 microduplication syndrome	3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.	Orphanet:96095|UMLS:CN206814	mondo.json	dup(3q) syndrome|trisomy 3q26|Cornelia de Lange-like syndrome|dup(3)(q26)	http://purl.obolibrary.org/obo/MONDO_0019878	UMLS:CN206814|Orphanet:96095	ordo_malformation_syndrome
MONDO:0020856	biolink:Disease	bone marrow failure syndrome 4		OMIM:618116	mondo.json	BMFS4|BONE MARROW FAILURE SYNDROME 4	http://purl.obolibrary.org/obo/MONDO_0020856	https://omim.org/entry/618116	
MONDO:0017215	biolink:Disease	calciphylaxis	Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes itto die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition.	MedDRA:10051714|MESH:D002115|NCIT:C84607|GARD:0005980|SCTID:237900002|UMLS:C0006666|ICD9:275.49|DOID:4734|Orphanet:280062	mondo.json	idiopathic calciphylaxis	http://purl.obolibrary.org/obo/MONDO_0017215	Orphanet:280062|UMLS:C0006666|NCIT:C84607|http://identifiers.org/snomedct/237900002|http://identifiers.org/mesh/D002115|DOID:4734	gard_rare|ordo_disease
MONDO:0019877	biolink:Disease	distal trisomy 2q	Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.	SCTID:763272003|Orphanet:96094	mondo.json	trisomy 2qter|telomeric duplication 2q|distal trisomy type 2q|distal duplication 2q	http://purl.obolibrary.org/obo/MONDO_0019877	Orphanet:96094|http://identifiers.org/snomedct/763272003	ordo_malformation_syndrome
MONDO:0017216	biolink:Disease	calciphylaxis cutis	Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation.	SCTID:717043006|Orphanet:280065|UMLS:C4274083	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017216	Orphanet:280065|http://identifiers.org/snomedct/717043006|UMLS:C4274083	ordo_clinical_subtype
MONDO:0020855	biolink:Disease	spermatogenic failure 32		OMIM:618115	mondo.json	spermatogenic failure 32|SPGF32	http://purl.obolibrary.org/obo/MONDO_0020855	https://omim.org/entry/618115	
MONDO:0017217	biolink:Disease	visceral calciphylaxis	Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation.	Orphanet:280068	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017217	Orphanet:280068	ordo_clinical_subtype
MONDO:0020854	biolink:Disease	Liddle syndrome 2	Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene.	OMIM:618114	mondo.json	Liddle syndrome caused by mutation in SCNN1G|SCNN1G Liddle syndrome|Liddle syndrome 2|LIDLS2	http://purl.obolibrary.org/obo/MONDO_0020854	https://omim.org/entry/618114	
MONDO:0017218	biolink:Disease	septopreoptic holoprosencephaly	Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion.	OMIM:157170|UMLS:CN202699|Orphanet:280195	mondo.json	Septopreoptic HPE	http://purl.obolibrary.org/obo/MONDO_0017218	Orphanet:280195|UMLS:CN202699	ordo_clinical_subtype
MONDO:0019879	biolink:Disease	distal trisomy 4q	Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported.	Orphanet:96096|SCTID:763273008	mondo.json	trisomy 4qter|telomeric duplication 4q|distal trisomy type 4q|distal duplication 4q	http://purl.obolibrary.org/obo/MONDO_0019879	Orphanet:96096|http://identifiers.org/snomedct/763273008	ordo_malformation_syndrome
MONDO:0020853	biolink:Disease	encephalitis/encephalopathy, mild, with reversible myelin vacuolization		OMIM:618113	mondo.json	encephalitis/encephalopathy, mild, with reversible myelin vacuolization|MMERV|Encephalitis/encephalopathy, mild, with reversible splenial lesion	http://purl.obolibrary.org/obo/MONDO_0020853	https://omim.org/entry/618113	
MONDO:0019874	biolink:Disease	distal trisomy 7p	Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.	Orphanet:96074|SCTID:763276000	mondo.json	trisomy 7pter|telomeric duplication 7p|distal duplication 7p|distal trisomy type 7p	http://purl.obolibrary.org/obo/MONDO_0019874	http://identifiers.org/snomedct/763276000|Orphanet:96074	ordo_malformation_syndrome
MONDO:0017211	biolink:Disease	infectious panuveitis		Orphanet:279925	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017211	Orphanet:279925	ordo_disease
MONDO:0017212	biolink:Disease	paraneoplastic uveitis		Orphanet:279928	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017212	Orphanet:279928	ordo_disease
MONDO:0019873	biolink:Disease	4p16.3 microduplication syndrome	4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.	UMLS:CN206808|SCTID:726706008|Orphanet:96072|UMLS:C4512053	mondo.json	telomeric duplication 4p|distal duplication 4p|distal trisomy 4p|trisomy 4pter	http://purl.obolibrary.org/obo/MONDO_0019873	http://identifiers.org/snomedct/726706008|Orphanet:96072|UMLS:C4512053|UMLS:CN206808	ordo_malformation_syndrome
MONDO:0017213	biolink:Disease	postorgasmic illness syndrome	A rare condition in which a man develops flu-like symptoms after ejaculation (when semen is released from the penis). Specific symptoms can include extreme fatigue, weakness, feverishness or sweating, mood changes or irritability, memory or concentration problems, and/or a stuffy nose or itching eyes. Symptoms may occur within seconds, minutes, or a few hours after ejaculation. Most symptoms last for 2 to 7 days and go away on their own. The underlying cause of POIS is poorly understood. Some scientists believe it may be due to a semen allergy that causes an immediate hypersensitivity reaction. There is no standard treatment for POIS, but some men have been treated with SSRIs, antihistamines, and/or benzodiazepines. Hyposensitization therapy (decreasing the immune response by exposure to semen) reportedly improved symptoms in two men with POIS.	UMLS:CN202682|Orphanet:279947|GARD:0010809	mondo.json	POIS|post orgasmic sick syndrome	http://purl.obolibrary.org/obo/MONDO_0017213	UMLS:CN202682|Orphanet:279947	gard_rare|ordo_clinical_syndrome
MONDO:0019876	biolink:Disease	8p inverted duplication/deletion syndrome	8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.	SCTID:718188007|Orphanet:96092|UMLS:CN206812	mondo.json	Invdupdel(8p)|inverted 8p duplication/deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0019876	UMLS:CN206812|http://identifiers.org/snomedct/718188007|Orphanet:96092	ordo_malformation_syndrome
MONDO:0019875	biolink:Disease	Beckwith-Wiedemann syndrome due to 11p15 microduplication		Orphanet:96076|UMLS:CN206810	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019875	UMLS:CN206810|Orphanet:96076	ordo_etiological_subtype
MONDO:0017214	biolink:Disease	vitamin B12-responsive methylmalonic acidemia	Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).	OMIM:277410|Orphanet:28|SCTID:69614003|GARD:0012623	mondo.json	adenosylcobalamin deficiency|vitamin B12-responsive methylmalonic aciduria	http://purl.obolibrary.org/obo/MONDO_0017214	Orphanet:28|http://identifiers.org/snomedct/69614003	ordo_disease|gard_rare
HP:0100508	biolink:PhenotypicFeature	Abnormality of vitamin metabolism	An anomaly in the metabolism of a vitamin.	UMLS:C4022036	mondo.json	Abnormality of vitamin metabolism	http://purl.obolibrary.org/obo/HP_0100508		
MONDO:0019870	biolink:Disease	distal trisomy 1p36	Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.	UMLS:CN244049|Orphanet:96069|SCTID:766053003	mondo.json	distal trisomy type 1p36|trisomy 1pter|telomeric duplication 1p36|distal duplication 1p36	http://purl.obolibrary.org/obo/MONDO_0019870	UMLS:CN244049|http://identifiers.org/snomedct/766053003|Orphanet:96069	ordo_malformation_syndrome
MONDO:0019872	biolink:Disease	distal trisomy 3p	Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.	Orphanet:96071|SCTID:764519007	mondo.json	telomeric duplication 3p|distal duplication 3p|distal trisomy type 3p|trisomy 3pter	http://purl.obolibrary.org/obo/MONDO_0019872	http://identifiers.org/snomedct/764519007|Orphanet:96071	ordo_malformation_syndrome
MONDO:0019871	biolink:Disease	distal trisomy 2p	Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.	Orphanet:96070|SCTID:764518004	mondo.json	telomeric duplication 2p|distal duplication 2p|distal trisomy type 2p|trisomy 2pter	http://purl.obolibrary.org/obo/MONDO_0019871	http://identifiers.org/snomedct/764518004|Orphanet:96070	ordo_malformation_syndrome
MONDO:0017210	biolink:Disease	infectious anterior uveitis	An infectious disease involving a pathogenic inflammatory response in the anterior uvea.	UMLS:C0154911|DOID:9389|Orphanet:279922|ICD9:364.03|SCTID:193487008	mondo.json	secondary iridocyclitis, infectious|secondary infected iridocyclitis|infectious secondary iridocyclitis	http://purl.obolibrary.org/obo/MONDO_0017210	DOID:9389|UMLS:C0154911|http://identifiers.org/snomedct/193487008|Orphanet:279922	clingen|ordo_disease
MONDO:0032816	biolink:Disease	neurodevelopmental disorder with ataxia, hypotonia, and microcephaly		OMIM:618569	mondo.json	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY|NEDAHM	http://purl.obolibrary.org/obo/MONDO_0032816	https://omim.org/entry/618569	
HP:0100512	biolink:PhenotypicFeature	Low levels of vitamin D	A reduced concentration of Vitamin D.	SNOMEDCT_US:34713006|UMLS:C0042870|MSH:D014808	mondo.json	Deficient in vitamin D|Vitamin D deficiency	http://purl.obolibrary.org/obo/HP_0100512		
MONDO:0032817	biolink:Disease	neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies		OMIM:618571|DOID:0070346	mondo.json	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES|NDCAGF	http://purl.obolibrary.org/obo/MONDO_0032817	DOID:0070346|https://omim.org/entry/618571	
MONDO:0032814	biolink:Disease	microangiopathy and leukoencephalopathy, pontine, autosomal dominant		OMIM:618564	mondo.json	MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT|PADMAL|Dementia, Hereditary Multi-Infarct, Swedish Type	http://purl.obolibrary.org/obo/MONDO_0032814	https://omim.org/entry/618564	
UBERON:0016497	biolink:AnatomicalEntity	epicondyle of humerus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016497		
HP:0100511	biolink:PhenotypicFeature	Abnormality of vitamin D metabolism		UMLS:C4022035	mondo.json	Abnormality of vitamin D metabolism	http://purl.obolibrary.org/obo/HP_0100511		
MONDO:0032815	biolink:Disease	mitochondrial DNA depletion syndrome 17		OMIM:618567	mondo.json	MTDPS17|MITOCHONDRIAL DNA DEPLETION SYNDROME 17	http://purl.obolibrary.org/obo/MONDO_0032815	https://omim.org/entry/618567	
MONDO:0032812	biolink:Disease	developmental and epileptic encephalopathy, 78		OMIM:618557	mondo.json	developmental and epileptic encephalopathy 78|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78|epileptic encephalopathy, early infantile, 78|DEE78|EIEE78	http://purl.obolibrary.org/obo/MONDO_0032812	https://omim.org/entry/618557	
MONDO:0005237	biolink:Disease	obsolete pleomorphic liposarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005237		
UBERON:0016491	biolink:AnatomicalEntity	vertebral centrum element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016491		
MONDO:0005236	biolink:Disease	xanthoma	A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues.	HP:0001114|EFO:0003075|NCIT:C4071	mondo.json	xanthoma|xanthoma (disease)	http://purl.obolibrary.org/obo/MONDO_0005236	NCIT:C4071	
UBERON:0016490	biolink:AnatomicalEntity	auditory system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016490		
MONDO:0032813	biolink:Disease	developmental and epileptic encephalopathy, 79		OMIM:618559	mondo.json	DEE79|EIEE79|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79|epileptic encephalopathy, early infantile, 79|developmental and epileptic encephalopathy 79	http://purl.obolibrary.org/obo/MONDO_0032813	https://omim.org/entry/618559	
MONDO:0007898	biolink:Disease	leukocyte nuclear appendages, hereditary prevalence of		OMIM:151500|MESH:C563626|UMLS:C1835405	mondo.json	leukocyte nuclear appendages, hereditary prevalence of	http://purl.obolibrary.org/obo/MONDO_0007898	http://identifiers.org/mesh/C563626|UMLS:C1835405|https://omim.org/entry/151500	
MONDO:0032810	biolink:Disease	oocyte maturation defect 7		OMIM:618550	mondo.json	OOCYTE MATURATION DEFECT 7|OOMD7	http://purl.obolibrary.org/obo/MONDO_0032810	https://omim.org/entry/618550	
MONDO:0005239	biolink:Disease	obsolete dedifferentiated liposarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005239		
MONDO:0007899	biolink:Disease	lichen sclerosus et atrophicus	A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis.	NCIT:C26817|UMLS:C0023652|ICD10CM:L90.0|SCTID:25674000|GARD:0006905|MESH:D018459|OMIM:151590|Orphanet:33409	mondo.json	lichen sclerosus|lichen sclerosis et atrophicus|lichen sclerosis|LSA|lichen SCLEROSUS ET ATROPHICUS|lichen sclerosus et atrophicus	http://purl.obolibrary.org/obo/MONDO_0007899	UMLS:C0023652|http://identifiers.org/mesh/D018459|NCIT:C26817|http://purl.bioontology.org/ontology/ICD10CM/L90.0|Orphanet:33409|http://identifiers.org/snomedct/25674000|https://omim.org/entry/151590	
MONDO:0005238	biolink:Disease	round cell liposarcoma	A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma.	SCTID:404070007|EFO:0003084|ICDO:8853/3|DOID:5692|NCIT:C4252|ICD9:171.9|UMLS:C0334471	mondo.json	round cell liposarcoma|round cell liposarcoma (morphologic abnormality)|cellular myxoid liposarcoma	http://purl.obolibrary.org/obo/MONDO_0005238	http://identifiers.org/snomedct/404070007|NCIT:C4252|UMLS:C0334471|DOID:5692	
MONDO:0032811	biolink:Disease	night blindness, congenital stationary, type1i		OMIM:618555	mondo.json	night blindness, congenital stationary, type 1I|CSNB1I|NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I	http://purl.obolibrary.org/obo/MONDO_0032811	https://omim.org/entry/618555	
MONDO:0007896	biolink:Disease	acute monocytic leukemia	Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11).	OMIM:151380|ICDO:9891/3|Orphanet:514|NCIT:C4861|UMLS:C0023479|CSP:2004-2820|ONCOTREE:AMOL|SCTID:413441006|GARD:0000525|UMLS:C0023465|MedDRA:10059439|DOID:8864|MedDRA:10000871|UMLS:C1318544|EFO:0000221|ICD9:206.0|MESH:D007948	mondo.json	acute monocytic leukemia, morphology (morphologic abnormality)|acute monoblastic/monocytic leukemia|AML M5|monocytic leukemia|acute monocytic leukemia without mention of remission|acute monocytic leukemia|AML-M5|acute monocytic leukemia, morphology|acute myeloblastic leukemia type 5|acute monoblastic leukemia and acute monocytic leukemia|leukemia, monocytic, malignant|acute monocytic leukemia (FAB M5B)|acute monocytic leukemia (FAB M5b)|acute monoblastic leukemia|leukemia, acute monocytic|monocytic leukemia, acute|acute monocytic leukemia, FAB M5	http://purl.obolibrary.org/obo/MONDO_0007896	UMLS:C1318544|NCIT:C4861|DOID:8864|https://omim.org/entry/151380|Orphanet:514|http://identifiers.org/snomedct/413441006|UMLS:C0023465|http://identifiers.org/mesh/D007948	gard_rare|ordo_disease
MONDO:0005233	biolink:Disease	non-small cell lung carcinoma	A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy.	UMLS:C0007131|EFO:0003060|DOID:3908|HP:0030358|MESH:D002289|KEGG:05223|ONCOTREE:NSCLC|NCIT:C2926|Orphanet:488201|SCTID:254637007	mondo.json	non-small cell lung carcinoma|NSCLC - non-small cell lung cancer|non-small cell carcinoma of lung|non-small cell carcinoma of the lung|non-small cell lung cancer|NSCLC|non-small cell lung carcinoma (disease)|non-small cell cancer of lung|non-small cell cancer of the lung	http://purl.obolibrary.org/obo/MONDO_0005233	http://identifiers.org/mesh/D002289|http://identifiers.org/snomedct/254637007|NCIT:C2926|UMLS:C0007131|Orphanet:488201|DOID:3908	
FOODON:00001180	biolink:NamedThing	prepared food product	Food product that is 1) ready or nearly ready for consumption; 2) usually a composite of several foods or ingredients that often belong to distinct product types; 3) usually formulated, mixed and partially or fully cooked.		mondo.json	prepared	http://purl.obolibrary.org/obo/FOODON_00001180		
MONDO:0020852	biolink:Disease	spermatogenic failure 31		OMIM:618112	mondo.json	SPGF31|spermatogenic failure 31	http://purl.obolibrary.org/obo/MONDO_0020852	https://omim.org/entry/618112	
MONDO:0020851	biolink:Disease	spermatogenic failure 30		OMIM:618110	mondo.json	SPGF30|spermatogenic failure 30	http://purl.obolibrary.org/obo/MONDO_0020851	https://omim.org/entry/618110	
MONDO:0005232	biolink:Disease	large cell carcinoma	A malignant epithelial neoplasm composed of large, atypical cells.	NCIT:C3780|DOID:4552|UMLS:C0206704|ICDO:8012/3|MESH:D018287	mondo.json	carcinoma, large cell|large cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005232	NCIT:C3780|DOID:4552|UMLS:C0206704|http://identifiers.org/mesh/D018287	
MONDO:0007897	biolink:Disease	obsolete leukemia, chronic lymphocytic			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007897		
MONDO:0007894	biolink:Disease	Leri pleonosteosis	Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.	OMIM:151200|Orphanet:2900|UMLS:C1835450|MESH:C537118|GARD:0000088	mondo.json	Leri's pleonosteosis|Leri type pleonosteosis|pleonosteosis Leri type|Leri pleonosteosis|chromosome 8q22.1 DUPLICATION syndrome|leri pleonosteosis chromosome duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0007894	UMLS:C1835450|http://identifiers.org/mesh/C537118|https://omim.org/entry/151200|Orphanet:2900	ordo_malformation_syndrome|gard_rare
MONDO:0020850	biolink:Disease	intellectual disability, autosomal recessive 65		OMIM:618109	mondo.json	mental retardation, autosomal recessive 65|MRT65|intellectual disability, autosomal recessive 65	http://purl.obolibrary.org/obo/MONDO_0020850	https://omim.org/entry/618109	
MONDO:0005235	biolink:Disease	smoldering plasma cell myeloma	A plasma cell myeloma lacking clinical manifestations and organ impairment.	EFO:0003073|DOID:9551|NCIT:C7149|SCTID:440422002	mondo.json	smoldering myeloma|smoldering Multiple myeloma/plasma cell myeloma|smoldering multiple myeloma|smoldering plasma cell myeloma|asymptomatic myeloma|asymptomatic plasma cell myeloma	http://purl.obolibrary.org/obo/MONDO_0005235	DOID:9551|http://identifiers.org/snomedct/440422002|NCIT:C7149	
MONDO:0007895	biolink:Disease	platyspondylic dysplasia, Torrance type		MESH:C563627|UMLS:C1835437|OMIM:151210|GARD:0004382|DOID:0111508|Orphanet:85166	mondo.json	thanatophoric dysplasia, Torrance variant|thanatophoric dysplasia, Luton variant|PLSD-T|Platyspondylic lethal skeletal dysplasia, Luton type|PLSDT|Platyspondylic lethal skeletal dysplasia Torrance type|lethal short-limbed Platyspondylic dwarfism Torrance type|Platyspondylic dysplasia, Torrance-Luton type|Platyspondylic lethal skeletal dysplasia, Torrance type|platyspondylic skeletal dysplasia, Torrance type|thanatophoric dysplasia Torrance variant|lethal short-limbed Platyspondylic dwarfism, Torrance type|platyspondylic dysplasia, Torrance type	http://purl.obolibrary.org/obo/MONDO_0007895	UMLS:C1835437|https://omim.org/entry/151210|Orphanet:85166|DOID:0111508|http://identifiers.org/mesh/C563627	ordo_malformation_syndrome
MONDO:0005234	biolink:Disease	obsolete polymyositis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005234		
MONDO:0007892	biolink:Disease	Lenz-Majewski hyperostotic dwarfism	Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.	DOID:0111507|OMIM:151050|Orphanet:2658|MESH:C537115|GARD:0003223	mondo.json	Lenz-Majewski syndrome|hyperostotic dwarfism Lenz-Majewski type|multiple congenital anomalies, intellectual disability and progressive skeletal sclerosis|LMHD|Lenz-Majewski hyperostotic dwarfism|multiple congenital anomalies, mental retardation and progressive skeletal sclerosis|Lenz-Majewski hyperostotic dysplasia|Lenz Majewski hyperostotic dwarfism	http://purl.obolibrary.org/obo/MONDO_0007892	http://identifiers.org/mesh/C537115|https://omim.org/entry/151050|Orphanet:2658|DOID:0111507	ordo_malformation_syndrome|gard_rare
FOODON:00001184	biolink:NamedThing	algal food product	This food product type includes food products which are derived from a large, diverse group of photosynthetic organisms.	SUBSET_SIREN:F10419	mondo.json		http://purl.obolibrary.org/obo/FOODON_00001184		"subset_siren"
MONDO:0007893	biolink:Disease	Noonan syndrome with multiple lentigines	A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.	ICD9:709.09|OMIMPS:151100|UMLS:CN074218|MESH:D044542|Orphanet:500|NCIT:C84820|DOID:14291|GARD:0001100|UMLS:C0175704|MedDRA:10062901|SCTID:111306001	mondo.json	progressive cardiomyopathic lentiginosis|generalized lentiginosis|lentiginosis profusa syndrome|Gorlin syndrome II|LEOPARD syndrome|lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness|Cardiomyopathic lentiginosis|Noonan syndrome with multiple lentigines|familial multiple lentigines syndrome|Moynahan syndrome|lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes|Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome	http://purl.obolibrary.org/obo/MONDO_0007893	NCIT:C84820|http://identifiers.org/mesh/D044542|UMLS:CN074218|https://omim.org/phenotypicSeries/PS151100|http://identifiers.org/snomedct/111306001|UMLS:C0175704|DOID:14291|Orphanet:500	clingen|ordo_malformation_syndrome
MONDO:0005231	biolink:Disease	hepatitis C virus infection	A viral infection caused by the hepatitis C virus.	MESH:D006526|NCIT:C3098|SCTID:128302006|EFO:0003047|ICD9:070.7|UMLS:C0019196|ICD9:070.54|DOID:1883|ICD9:070.41	mondo.json	hepatitis type C|hepatitis Nona nonB|NANBH|Hepatitis C virus hepatitis|chronic hepatitis C|non-A, non-B Hepatitis|viral hepatitis C|hepatitis C infection|Hepatitis C virus caused hepatitis	http://purl.obolibrary.org/obo/MONDO_0005231	DOID:1883|NCIT:C3098|UMLS:C0019196|http://identifiers.org/snomedct/128302006|http://identifiers.org/mesh/D006526	
MONDO:0007890	biolink:Disease	lentiginosis, centrofacial neurodysraphic		OMIM:151000|MESH:C563630|UMLS:C1835484	mondo.json	lentiginosis, centrofacial neurodysraphic|lentiginosis, Touraine type	http://purl.obolibrary.org/obo/MONDO_0007890	https://omim.org/entry/151000|http://identifiers.org/mesh/C563630|UMLS:C1835484	
MONDO:0032818	biolink:Disease	neurodevelopmental disorder with cerebellar hypoplasia and spasticity		OMIM:618572	mondo.json	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY|NEDCHS	http://purl.obolibrary.org/obo/MONDO_0032818	https://omim.org/entry/618572	
MONDO:0032819	biolink:Disease	hypothyroidism, congenital, nongoitrous, 7		SCTID:725462002|OMIM:618573|UMLS:CN207394|Orphanet:99832	mondo.json	thyrotropin-releasing hormone resistance, generalized|HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7|central hypothyroidism due to TRH receptor deficiency|hypothyroidism, congenital, nongoitrous, 7|CHNG7|resistance to thyrotropin-releasing hormone syndrome|TRH resistance syndrome	http://purl.obolibrary.org/obo/MONDO_0032819	UMLS:CN207394|http://identifiers.org/snomedct/725462002|https://omim.org/entry/618573|Orphanet:99832	ordo_disease
MONDO:0005230	biolink:Disease	cellulitis	Inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area.	ICD9:682.9|ICD9:682.8|DOID:3488|MESH:D002481|Wikipedia:Cellulitis|SCTID:128045006|HP:0100658|EFO:0003035|NCIT:C26715	mondo.json	cellulitis|cellulitis (disease)	http://purl.obolibrary.org/obo/MONDO_0005230	NCIT:C26715|http://identifiers.org/mesh/D002481|http://identifiers.org/snomedct/128045006|DOID:3488	
MONDO:0007891	biolink:Disease	familial generalized lentiginosis	Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.	OMIM:151001|UMLS:C3492944|UMLS:CN201466|MESH:C573023|Orphanet:231040|SCTID:765195000	mondo.json	lentiginosis, inherited patterned|lentiginosis, generalized|lentiginosis, diffuse|familial lentigines profusa|familial multiple lentigines syndrome without systemic involvement|lentiginosis profusa	http://purl.obolibrary.org/obo/MONDO_0007891	Orphanet:231040|https://omim.org/entry/151001|UMLS:CN201466|http://identifiers.org/snomedct/765195000|UMLS:C3492944|http://identifiers.org/mesh/C573023	ordo_disease
MONDO:0020849	biolink:Disease	immunodeficiency 57		OMIM:618108	mondo.json	IMMUNODEFICIENCY 57|immunodeficiency 57 with autoinflammation|IMD57	http://purl.obolibrary.org/obo/MONDO_0020849	https://omim.org/entry/618108	
MONDO:0017208	biolink:Disease	obsolete intermediate uveitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017208		
MONDO:0017209	biolink:Disease	infectious posterior uveitis		Orphanet:279919	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017209	Orphanet:279919	ordo_disease
MONDO:0020848	biolink:Disease	osteopetrosis, autosomal dominant 3		OMIM:618107	mondo.json	OSTEOPETROSIS, autosomal dominant 3|OPTA3	http://purl.obolibrary.org/obo/MONDO_0020848	https://omim.org/entry/618107	
MONDO:0020847	biolink:Disease	intellectual disability, autosomal dominant 58		OMIM:618106	mondo.json	MENTAL RETARDATION, autosomal dominant 58|MRD58	http://purl.obolibrary.org/obo/MONDO_0020847	https://omim.org/entry/618106	
MONDO:0020846	biolink:Disease	intellectual disability, autosomal recessive 64		OMIM:618103	mondo.json	MRT64|MENTAL RETARDATION, autosomal recessive 64	http://purl.obolibrary.org/obo/MONDO_0020846	https://omim.org/entry/618103	
MONDO:0020845	biolink:Disease	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5		OMIM:618098|DOID:0111524	mondo.json	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5|PEOB5|progressive external ophthalmoplegia, autosomal recessive 5	http://purl.obolibrary.org/obo/MONDO_0020845	https://omim.org/entry/618098|DOID:0111524	
MONDO:0019867	biolink:Disease	mosaic trisomy 8	Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.	MedDRA:10053916|MESH:C537940|Orphanet:96061|SCTID:717335009|GARD:0005359	mondo.json	trisomy 8 mosaicism|Mosaic trisomy chromosome 8|Mosaic trisomy type 8|Warkany syndrome	http://purl.obolibrary.org/obo/MONDO_0019867	http://identifiers.org/snomedct/717335009|http://identifiers.org/mesh/C537940|Orphanet:96061	ordo_malformation_syndrome|gard_rare
MONDO:0017204	biolink:Disease	toxic maculopathy due to antimalarial drugs	Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.	Orphanet:279894|ICD10CM:H35.3|SCTID:763621004|UMLS:CN202676	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017204	Orphanet:279894|http://identifiers.org/snomedct/763621004|UMLS:CN202676	ordo_disease
MONDO:0019866	biolink:Disease	mosaic trisomy 5	Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.	MESH:C537762|Orphanet:96060|SCTID:764629008	mondo.json	Mosaic trisomy type 5|trisomy 5 mosaicism|Mosaic trisomy chromosome 5	http://purl.obolibrary.org/obo/MONDO_0019866	http://identifiers.org/snomedct/764629008|http://identifiers.org/mesh/C537762|Orphanet:96060	ordo_malformation_syndrome
MONDO:0017205	biolink:Disease	primary oculocerebral lymphoma	Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits.	Orphanet:279897	mondo.json	primary oculocerebral non-Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0017205	Orphanet:279897	ordo_disease
MONDO:0019869	biolink:Disease	mosaic trisomy 22	Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described.	SCTID:764625002|Orphanet:96068|MESH:C536796|GARD:0006085	mondo.json	trisomy 22 mosaicism|Mosaic trisomy chromosome 22|Mosaic trisomy type 22	http://purl.obolibrary.org/obo/MONDO_0019869	http://identifiers.org/mesh/C536796|http://identifiers.org/snomedct/764625002|Orphanet:96068	ordo_malformation_syndrome|gard_rare
MONDO:0020843	biolink:Disease	pseudomembranous diphtheritic conjunctivitis	Pseudomembranous colitis resulting from infection by Corynebacterium diphtheriae.	NCIT:C34543|UMLS:C0012554|ICD9:032.81|SCTID:7773002	mondo.json	pseudomembranous diphtheritic conjunctivitis|Conjunctival diphtheria|conjunctival diphtheria	http://purl.obolibrary.org/obo/MONDO_0020843	NCIT:C34543|http://identifiers.org/snomedct/7773002|UMLS:C0012554	
MONDO:0017206	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0017206		
MONDO:0017207	biolink:Disease	primary organ-specific lymphoma		NCIT:C7185|UMLS:C1334465|Orphanet:279911	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017207	NCIT:C7185|Orphanet:279911|UMLS:C1334465	ordo_group_of_disorders|disease_grouping
MONDO:0019868	biolink:Disease	mosaic trisomy 10	Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.	SCTID:764461004|Orphanet:96063|UMLS:CN035866|GARD:0005406|MESH:C538292	mondo.json	mosaic trisomy 10|Mosaic trisomy type 10|trisomy 10 mosaicism|chromosome 10, uniparental disomy|Mosaic trisomy chromosome 10|uniparental disomy of 10	http://purl.obolibrary.org/obo/MONDO_0019868	UMLS:CN035866|http://identifiers.org/mesh/C538292|http://identifiers.org/snomedct/764461004|Orphanet:96063	gard_rare|ordo_malformation_syndrome
MONDO:0020842	biolink:Disease	obsolete medullary carcinoma	OBSOLETE. Medullary carcinoma may refer to one of several different tumors of epithelial origin. As the term 'medulla' is a generic anatomic descriptor for the mid-layer of various organ tissues, a medullary tumor usually arises from the 'mid-layer tissues' of the relevant organ.	NCIT:C8998	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020842	NCIT:C8998	
MONDO:0019863	biolink:Disease	obsolete acro-renal-ocular syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019863		
MONDO:0017200	biolink:Disease	polycystic ovaries-urethral sphincter dysfunction syndrome	Polycystic ovaries-urethral sphincter dysfunction syndrome is characterised by urinary retention and incomplete emptying of the bladder associated with abnormal electromyographic activity. It has been described in 33 women, 14 of whom also had polycystic ovaries.	GARD:0002365|UMLS:C2931462|MESH:C537271|Orphanet:2795	mondo.json	voiding dysfunction and polycystic ovaries|fowler Christmas Chapple syndrome|fowler-Christmas-Chapple syndrome|fowler's syndrome|polycystic ovaries urethral sphincter dysfunction	http://purl.obolibrary.org/obo/MONDO_0017200	UMLS:C2931462|Orphanet:2795|http://identifiers.org/mesh/C537271	ordo_disease
MONDO:0019862	biolink:Disease	levocardia	A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation.	NCIT:C111647|GARD:0012032|ICD10CM:Q24.1|MedDRA:10071015|UMLS:C0023569|MESH:D007979|Orphanet:95854|SCTID:205769006	mondo.json	Isolated levocardia with situs inversus|levocardia-situs inversus|Situs inversus with levocardia	http://purl.obolibrary.org/obo/MONDO_0019862	http://identifiers.org/mesh/D007979|Orphanet:95854|http://identifiers.org/snomedct/205769006|NCIT:C111647|http://purl.bioontology.org/ontology/ICD10CM/Q24.1|UMLS:C0023569	ordo_morphological_anomaly|gard_rare
MONDO:0032820	biolink:Disease	neurodevelopmental disorder with structural brain anomalies and dysmorphic facies		OMIM:618577	mondo.json	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES|NEDBAF	http://purl.obolibrary.org/obo/MONDO_0032820	https://omim.org/entry/618577	
MONDO:0017201	biolink:Disease	Spasmus nutans	Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis.	Orphanet:279882|SCTID:400948003|MedDRA:10059593|UMLS:C1527306|HP:0010533	mondo.json	Spasmus nutans|Spasmus nutans (disease)	http://purl.obolibrary.org/obo/MONDO_0017201	http://identifiers.org/snomedct/400948003|UMLS:C1527306|Orphanet:279882	ordo_clinical_syndrome
MONDO:0017202	biolink:Disease	acute endophthalmitis	Acute form of endophthalmitis.	DOID:11752|ICD9:360.01|SCTID:1493002|UMLS:C0154773|MedDRA:10000730|Orphanet:279888	mondo.json	endophthalmitis, acute	http://purl.obolibrary.org/obo/MONDO_0017202	Orphanet:279888|UMLS:C0154773|DOID:11752|http://identifiers.org/snomedct/1493002	ordo_clinical_subtype
MONDO:0019865	biolink:Disease	mosaic trisomy 4	Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.	SCTID:764628000|Orphanet:96059	mondo.json	Mosaic trisomy chromosome 4|Mosaic trisomy type 4|trisomy 4 mosaicism	http://purl.obolibrary.org/obo/MONDO_0019865	http://identifiers.org/snomedct/764628000|Orphanet:96059	ordo_malformation_syndrome
MONDO:0017203	biolink:Disease	chronic endophthalmitis	Chronic form of endophthalmitis.	SCTID:13978000|MedDRA:10008864|DOID:10697|Orphanet:279891|ICD9:360.03|UMLS:C0154774	mondo.json	endophthalmitis, chronic	http://purl.obolibrary.org/obo/MONDO_0017203	http://identifiers.org/snomedct/13978000|Orphanet:279891|UMLS:C0154774|DOID:10697	ordo_clinical_subtype
MONDO:0019864	biolink:Disease	tetrasomy 21	Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21.	Orphanet:96055|SCTID:764690001|GARD:0012480	mondo.json	tetrasomy type 21|Isochromosome 21	http://purl.obolibrary.org/obo/MONDO_0019864	http://identifiers.org/snomedct/764690001|Orphanet:96055	gard_rare|ordo_malformation_syndrome
MONDO:0019861	biolink:Disease	thyroid hypoplasia	Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.	OMIM:218700|Orphanet:95720|MedDRA:10065938	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019861	Orphanet:95720	ordo_morphological_anomaly
MONDO:0019860	biolink:Disease	thyroid hemiagenesis	Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.	Orphanet:95719|SCTID:715734006|OMIM:218700|UMLS:C4023190	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019860	Orphanet:95719|UMLS:C4023190|http://identifiers.org/snomedct/715734006	ordo_morphological_anomaly
CHEBI:18085	biolink:ChemicalSubstance	glycosaminoglycan	Any polysaccharide containing a substantial proportion of aminomonosaccharide residues.		mondo.json	glycosaminoglycane|Glycosaminoglycan|glycosaminoglycans|glycosaminoglycan|glicosaminoglicano|Glykosaminoglykan	http://purl.obolibrary.org/obo/CHEBI_18085		
GO:0044381	biolink:NamedThing	glucose import in response to insulin stimulus	The directed movement of the hexose monosaccharide glucose into a cell as a result of an insulin stimulus.		mondo.json	cellular glucose import in response to insulin stimulus	http://purl.obolibrary.org/obo/GO_0044381		
UBERON:0004417	biolink:AnatomicalEntity	proximal epiphysis of phalanx of manual digit 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004417		
UBERON:0016405	biolink:AnatomicalEntity	pulmonary capillary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016405		
UBERON:0016400	biolink:AnatomicalEntity	infrapatellar fat pad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016400		
UBERON:0016402	biolink:AnatomicalEntity	mesocolic lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016402		
PATO:0002143	biolink:NamedThing	sloped downward			mondo.json		http://purl.obolibrary.org/obo/PATO_0002143		
UBERON:0004426	biolink:AnatomicalEntity	proximal epiphysis of fifth metacarpal bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004426		
UBERON:0004427	biolink:AnatomicalEntity	proximal epiphysis of first metatarsal bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004427		
UBERON:0004422	biolink:AnatomicalEntity	proximal epiphysis of first metacarpal bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004422		
UBERON:0004421	biolink:AnatomicalEntity	proximal epiphysis of phalanx of manual digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004421		
GO:0007409	biolink:NamedThing	axonogenesis	De novo generation of a long process of a neuron, including the terminal branched region. Refers to the morphogenesis or creation of shape or form of the developing axon, which carries efferent (outgoing) action potentials from the cell body towards target cells.		mondo.json	axon growth|axon morphogenesis|neuron long process generation	http://purl.obolibrary.org/obo/GO_0007409		
UBERON:0004408	biolink:AnatomicalEntity	distal epiphysis of ulna			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004408		
UBERON:0004409	biolink:AnatomicalEntity	distal epiphysis of phalanx of manus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004409		
UBERON:0004406	biolink:AnatomicalEntity	distal epiphysis of femur			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004406		
UBERON:0004407	biolink:AnatomicalEntity	distal epiphysis of radius			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004407		
CHEBI:45696	biolink:ChemicalSubstance	hydrogensulfate			mondo.json	hydrogensulfate(1-)|hydrogen(tetraoxidosulfate)(1-)|hydrogentetraoxosulfate(1-)|[SO3(OH)](-)|hydrogensulfate|HYDROGEN SULFATE|hydrogentetraoxosulfate(VI)|HSO4(-)|hydroxidotrioxidosulfate(1-)	http://purl.obolibrary.org/obo/CHEBI_45696		
UBERON:0004415	biolink:AnatomicalEntity	proximal epiphysis of metatarsal bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004415		
HGNC:2843	biolink:NamedThing	DGAT1			mondo.json		http://identifiers.org/hgnc/2843		
UBERON:0004416	biolink:AnatomicalEntity	proximal epiphysis of metacarpal bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004416		
UBERON:0004413	biolink:AnatomicalEntity	proximal epiphysis of radius			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004413		
UBERON:0004414	biolink:AnatomicalEntity	proximal epiphysis of phalanx of manus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004414		
UBERON:0004411	biolink:AnatomicalEntity	proximal epiphysis of humerus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004411		
UBERON:0004412	biolink:AnatomicalEntity	proximal epiphysis of femur			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004412		
UBERON:0004410	biolink:AnatomicalEntity	distal epiphysis of fibula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004410		
HGNC:2847	biolink:NamedThing	DGCR8			mondo.json		http://identifiers.org/hgnc/2847		
HGNC:2846	biolink:NamedThing	DGCR6			mondo.json		http://identifiers.org/hgnc/2846		
HGNC:2845	biolink:NamedThing	DGCR2			mondo.json		http://identifiers.org/hgnc/2845		
HGNC:2844	biolink:NamedThing	DGCR			mondo.json		http://identifiers.org/hgnc/2844		
NCBITaxon:42068	biolink:OrganismalEntity	Pneumocystis jirovecii		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_42068		
CHEBI:33693	biolink:ChemicalSubstance	oxygen hydride			mondo.json	hydrides of oxygen|oxygen hydride|oxygen hydrides	http://purl.obolibrary.org/obo/CHEBI_33693		
CHEBI:33694	biolink:ChemicalSubstance	biomacromolecule	A macromolecule formed by a living organism.		mondo.json	Biopolymere|biopolymers|biopolymer|biomacromolecules	http://purl.obolibrary.org/obo/CHEBI_33694		
CHEBI:33695	biolink:ChemicalSubstance	information biomacromolecule			mondo.json	information macromolecule|genetically encoded biopolymers|information biopolymers|genetically encoded biomacromolecules|information macromolecules|information biomacromolecules	http://purl.obolibrary.org/obo/CHEBI_33695		
NCBITaxon:1511900	biolink:OrganismalEntity	Primate erythroparvovirus 1		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1511900		
UBERON:0004404	biolink:AnatomicalEntity	distal epiphysis of humerus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004404		
UBERON:0004405	biolink:AnatomicalEntity	distal epiphysis of tibia			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004405		
HGNC:2852	biolink:NamedThing	DGKE			mondo.json		http://identifiers.org/hgnc/2852		
UBERON:0004402	biolink:AnatomicalEntity	bone tissue of proximal epiphysis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004402		
UBERON:0004403	biolink:AnatomicalEntity	periosteum of epiphysis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004403		
UBERON:0004400	biolink:AnatomicalEntity	bone tissue of epiphysis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004400		
UBERON:0004401	biolink:AnatomicalEntity	bone tissue of distal epiphysis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004401		
CHEBI:33692	biolink:ChemicalSubstance	hydrides	Hydrides are chemical compounds of hydrogen with other chemical elements.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_33692		
HGNC:2859	biolink:NamedThing	DHCR24			mondo.json		http://identifiers.org/hgnc/2859		
HGNC:2858	biolink:NamedThing	DGUOK			mondo.json		http://identifiers.org/hgnc/2858		
NCBITaxon:8457	biolink:OrganismalEntity	Sauropsida		GC_ID:1	mondo.json	sauropsids	http://purl.obolibrary.org/obo/NCBITaxon_8457		
HGNC:2865	biolink:NamedThing	DHH			mondo.json		http://identifiers.org/hgnc/2865		
HGNC:2861	biolink:NamedThing	DHFR			mondo.json		http://identifiers.org/hgnc/2861		
HGNC:2860	biolink:NamedThing	DHCR7			mondo.json		http://identifiers.org/hgnc/2860		
CHEBI:57652	biolink:ChemicalSubstance	chondroitin D-glucuronate anion	Anionic form of chondroitin D-glucuronate arising from deprotonation of the carboxylic acid groups of the repeating units; major species at pH 7.3.		mondo.json	chondroitin D-glucuronate|chondroitin D-glucuronate polyanion	http://purl.obolibrary.org/obo/CHEBI_57652		
MONDO:0007827	biolink:Disease	inclusion body myositis	A slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features.	DOID:3429|UMLS:C0238190|NCIT:C84786|Orphanet:611|MESH:D018979|GARD:0003896|SCTID:72315009|EFO:0007323|ICD9:729.1|OMIM:147421|ICD9:359.71|MedDRA:10066407	mondo.json	IBM|sIBM|inflammatory myopathy|sporadic inclusion body myositis|Ibm|inclusion body myositis	http://purl.obolibrary.org/obo/MONDO_0007827	NCIT:C84786|UMLS:C0238190|http://identifiers.org/snomedct/72315009|https://omim.org/entry/147421|Orphanet:611|DOID:3429|http://identifiers.org/mesh/D018979	ordo_disease
MONDO:0007828	biolink:Disease	indifference to pain, congenital, autosomal dominant		MESH:C564128|UMLS:C1840219|OMIM:147430	mondo.json	congenital analgesia, autosomal dominant|MARSILI syndrome|Marsili syndrome|insensitivity to pain, congenital, autosomal dominant|MARSIS|indifference to pain, congenital, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007828	https://omim.org/entry/147430|http://identifiers.org/mesh/C564128|UMLS:C1840219	
MONDO:0007825	biolink:Disease	incisors, rotation of upper central		OMIM:147350	mondo.json	incisors, rotation of upper central	http://purl.obolibrary.org/obo/MONDO_0007825	https://omim.org/entry/147350	
OBO:cl#has_not_completed	biolink:NamedThing	has_not_completed			mondo.json		http://purl.obolibrary.org/obo/cl#has_not_completed		
MONDO:0007826	biolink:Disease	incisors, shovel-shaped		OMIM:147400	mondo.json	Sinodonty|incisors, shovel-shaped	http://purl.obolibrary.org/obo/MONDO_0007826	https://omim.org/entry/147400	
MONDO:0007823	biolink:Disease	obsolete insulin receptors, familial increase 1N		OMIM:147320	mondo.json	insulin receptors, familial increase type 1N|insulin receptors, familial increase IN	http://purl.obolibrary.org/obo/MONDO_0007823	https://omim.org/entry/147320	
MONDO:0007824	biolink:Disease	incisors, lower central, absence of		OMIM:147330	mondo.json	incisors, lower central, absence of	http://purl.obolibrary.org/obo/MONDO_0007824	https://omim.org/entry/147330	
MONDO:0007821	biolink:Disease	obsolete immunoglobulin switch sequences		UMLS:C1840234|OMIM:147260	mondo.json	Immunoglobulin-independent switch Sequences|S Sequences|immunoglobulin switch sequences	http://purl.obolibrary.org/obo/MONDO_0007821	https://omim.org/entry/147260|UMLS:C1840234	
HGNC:2867	biolink:NamedThing	DHODH			mondo.json		http://identifiers.org/hgnc/2867		
MONDO:0007822	biolink:Disease	obsolete incisors, long upper central		OMIM:147300	mondo.json	incisors, long upper central	http://purl.obolibrary.org/obo/MONDO_0007822	https://omim.org/entry/147300	
CHEBI:33679	biolink:ChemicalSubstance	helium molecular entity			mondo.json	helium molecular entity|helium molecular entities|helium compounds	http://purl.obolibrary.org/obo/CHEBI_33679		
MONDO:0007820	biolink:Disease	fused mandibular incisors	Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure.	UMLS:CN201433|OMIM:147251|SCTID:707796002|Orphanet:2287|GARD:0002419	mondo.json	'Double Tooth'|incisors, FUSED mandibular|Double tooth	http://purl.obolibrary.org/obo/MONDO_0007820	Orphanet:2287|UMLS:CN201433|https://omim.org/entry/147251|http://identifiers.org/snomedct/707796002	ordo_morphological_anomaly|gard_rare
UBERON:0016447	biolink:AnatomicalEntity	hair of trunk			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016447		
MONDO:0019809	biolink:Disease	congenital aortic valve insufficiency	Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth.	ICD9:746.4|UMLS:C0158617|Orphanet:95449|SCTID:28656008|NCIT:C103936|MedDRA:10010370	mondo.json	Congential aortic valve insufficiency|congenital insufficiency of aortic valve|congenital aortic insufficiency	http://purl.obolibrary.org/obo/MONDO_0019809	UMLS:C0158617|NCIT:C103936|http://identifiers.org/snomedct/28656008|Orphanet:95449	ordo_disease
MONDO:0019808	biolink:Disease	aortic valve atresia	A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure.	MedDRA:10066801|SCTID:51442005|Orphanet:95448|NCIT:C98818|HP:0010883	mondo.json	aortic valve atresia|congenital atresia of aortic valve|aortic valve atresia (disease)|congenital aortic valve atresia	http://purl.obolibrary.org/obo/MONDO_0019808	NCIT:C98818|http://identifiers.org/snomedct/51442005|Orphanet:95448	ordo_clinical_subtype
UBERON:0016446	biolink:AnatomicalEntity	hair of head			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016446		
MONDO:0019816	biolink:Disease	anomaly of the tricuspid subvalvular apparatus		Orphanet:95463	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019816	Orphanet:95463	ordo_group_of_disorders|disease_grouping
CHEBI:33671	biolink:ChemicalSubstance	heteropolycyclic compound	A polycyclic compound in which at least one of the rings contains at least one non-carbon atom.		mondo.json	heteropolycyclic compounds|polyheterocyclic compounds	http://purl.obolibrary.org/obo/CHEBI_33671		
UBERON:0004462	biolink:AnatomicalEntity	musculature of body wall			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004462		
MONDO:0019815	biolink:Disease	accessory tricuspid valve tissue	Accessory tricuspid valve tissue is a rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly.	Orphanet:95462	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019815	Orphanet:95462	ordo_morphological_anomaly
CHEBI:33672	biolink:ChemicalSubstance	heterobicyclic compound	A bicyclic compound in which at least one of the rings contains at least one skeletal heteroatom.		mondo.json	heterobicyclic compounds	http://purl.obolibrary.org/obo/CHEBI_33672		
UBERON:0004463	biolink:AnatomicalEntity	musculature of hindlimb stylopod			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004463		
CHEBI:33673	biolink:ChemicalSubstance	zinc group molecular entity			mondo.json	zinc group molecular entities	http://purl.obolibrary.org/obo/CHEBI_33673		
MONDO:0019818	biolink:Disease	cleft mitral valve		Orphanet:95465	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019818	Orphanet:95465	ordo_morphological_anomaly
CHEBI:33674	biolink:ChemicalSubstance	s-block molecular entity	An s-block molecular entity is a molecular entity containing one or more atoms of an s-block element.		mondo.json	s-block molecular entity|s-block molecular entities|s-block compounds	http://purl.obolibrary.org/obo/CHEBI_33674		
MONDO:0019817	biolink:Disease	congenital mitral valve insufficiency and/or stenosis		ICD10CM:Q23|Orphanet:95464	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019817	Orphanet:95464|http://purl.bioontology.org/ontology/ICD10CM/Q23	ordo_group_of_disorders|disease_grouping
UBERON:0004461	biolink:AnatomicalEntity	skeletal musculature of head			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004461		
CHEBI:33675	biolink:ChemicalSubstance	p-block molecular entity	A main group molecular entity that contains one or more atoms of a p-block element.		mondo.json	p-block molecular entities|p-block compounds|p-block molecular entitiy	http://purl.obolibrary.org/obo/CHEBI_33675		
MONDO:0019812	biolink:Disease	obsolete tricuspid valve prolapse			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019812		
CHEBI:33676	biolink:ChemicalSubstance	d-block molecular entity	A d-block molecular entity is a molecular entity containing one or more atoms of a d-block element.		mondo.json	d-block molecular entity|d-block molecular entities|d-block compounds	http://purl.obolibrary.org/obo/CHEBI_33676		
PATO:0002103	biolink:NamedThing	infiltrative	A structural quality inhering in a bearer by virtue of the bearer's penetrating or permeating another substance or area.		mondo.json	infiltrating	http://purl.obolibrary.org/obo/PATO_0002103		
MONDO:0019811	biolink:Disease	tricuspid valve agenesis		ICD10CM:Q22.4|Orphanet:95457	mondo.json	congenital unguarded tricuspid orifice	http://purl.obolibrary.org/obo/MONDO_0019811	Orphanet:95457	ordo_morphological_anomaly
MONDO:0019814	biolink:Disease	straddling or overriding tricuspid valve	Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation.	Orphanet:95461	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019814	Orphanet:95461	ordo_morphological_anomaly
MONDO:0019813	biolink:Disease	congenital tricuspid stenosis		Orphanet:95459|SCTID:36233006|ICD10CM:Q22.4|MedDRA:10010656	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019813	http://purl.bioontology.org/ontology/ICD10CM/Q22.4|Orphanet:95459|http://identifiers.org/snomedct/36233006	ordo_morphological_anomaly
HGNC:2876	biolink:NamedThing	DIAPH1			mondo.json		http://identifiers.org/hgnc/2876		
MONDO:0019810	biolink:Disease	toxic epidermal necrolysis	Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes.	MedDRA:10044223|ICD9:695.15|EFO:0004775|Orphanet:95455|UMLS:C0014518|SCTID:23067006|GARD:0007743|NCIT:C79777	mondo.json	TEN|toxic epidermolysis|Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum|Lyell's syndrome|SJS-TEN|Lyell syndrome	http://purl.obolibrary.org/obo/MONDO_0019810	UMLS:C0014518|Orphanet:95455|NCIT:C79777|http://identifiers.org/snomedct/23067006	gard_rare|ordo_disease
UBERON:0004468	biolink:AnatomicalEntity	set of muscles of vertebral column			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004468		
HGNC:2873	biolink:NamedThing	CYB5R3			mondo.json		http://identifiers.org/hgnc/2873		
UBERON:0004469	biolink:AnatomicalEntity	musculature of back			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004469		
UBERON:0004466	biolink:AnatomicalEntity	musculature of leg			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004466		
UBERON:0004467	biolink:AnatomicalEntity	musculature of pharynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004467		
MONDO:0007818	biolink:Disease	hyper-IgE recurrent infection syndrome 1	A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome.	MESH:C567925|Orphanet:2314|UMLS:C1840265|OMIM:146840|UMLS:C1968689|EFO:0003775|OMIM:615816|MESH:C564135|NCIT:C126342|GARD:0006800|DOID:3261|SCTID:50926003|OMIM:147060	mondo.json	HIES, autosomal dominant|AD hyperimmunoglobulin E syndrome|autosomal dominant hyper IgE syndrome|hyper-IgE syndrome, autosomal dominant|Job's syndrome|hyperimmunoglobulin E syndrome type 1|Buckley syndrome|autosomal dominant HIES|immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist|autosomal dominant hyperimmunoglobulin E syndrome|JOB syndrome|STAT3 deficiency|autosomal dominant hyper-IgE syndrome|hyper-IgE recurrent infection syndrome|hyperimmunoglobulin E-recurrent infection syndrome|HIES autosomal dominant|AD-HIES|hyper Ig E syndrome, autosomal dominant|Job syndrome autosomal dominant|hyper-IgE recurrent infection syndrome, autosomal dominant|hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007818	http://identifiers.org/snomedct/50926003|Orphanet:2314|https://omim.org/entry/147060|http://identifiers.org/mesh/C567925|http://identifiers.org/mesh/C564135|DOID:3261|https://omim.org/entry/146840|NCIT:C126342|UMLS:C1840265	gard_rare|ordo_disease
UBERON:0004464	biolink:AnatomicalEntity	musculature of thorax			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004464		
MONDO:0007819	biolink:Disease	solitary median maxillary central incisor syndrome	A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified.	MESH:C537342|Orphanet:2286|SCTID:707609006|GARD:0004877|OMIM:147250	mondo.json	SMMCI|single central maxillary incisor|solitary MEDIAN maxillary central incisor|single upper central incisor|SMMCI syndrome|incisors, Fused|incisors fused|solitary median maxillary central incisor syndrome|Fused incisors|single median maxillary central incisor	http://purl.obolibrary.org/obo/MONDO_0007819	http://identifiers.org/snomedct/707609006|https://omim.org/entry/147250|http://identifiers.org/mesh/C537342	ordo_clinical_subtype
UBERON:0004465	biolink:AnatomicalEntity	musculature of neck			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004465		
CHEBI:33670	biolink:ChemicalSubstance	heteromonocyclic compound			mondo.json	heteromonocyclic compound|heteromonocyclic compounds	http://purl.obolibrary.org/obo/CHEBI_33670		
MONDO:0007838	biolink:Disease	Jacobsen syndrome	A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.	GARD:0000307|Orphanet:2308|UMLS:C0795841|DOID:0111723|OMIM:147791|NCIT:C75457|SCTID:715438008	mondo.json	chromosome 11q deletion syndrome|telomeric deletion 11q|Del(11)(q23.3)|distal deletion 11q|Del(11)(qter)|partial 11q monosomy syndrome|distal monosomy 11q|11q terminal deletion disorder|JBS|Jacobsen syndrome, Isolated cases|Jacobsen syndrome|monosomy 11qter	http://purl.obolibrary.org/obo/MONDO_0007838	Orphanet:2308|http://identifiers.org/snomedct/715438008|UMLS:C0795841|https://omim.org/entry/147791|NCIT:C75457|DOID:0111723	ordo_malformation_syndrome
MONDO:0007839	biolink:Disease	Aase-Smith syndrome	Aase-Smith syndrome type I is a very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.	OMIM:147800|UMLS:C0220686|MESH:C535332|MedDRA:10063429|GARD:0005642|SCTID:718576001|Orphanet:916	mondo.json	Aase-Smith I syndrome|Aase-Smith syndrome I|Aase-Smith syndrome|hydrocephalus-cleft palate-joint contractures syndrome|Aase-Smith syndrome 1|Aase-Smith syndrome type 1|Joint contractures with Other abnormalities	http://purl.obolibrary.org/obo/MONDO_0007839	http://identifiers.org/snomedct/718576001|https://omim.org/entry/147800|http://identifiers.org/mesh/C535332|Orphanet:916|UMLS:C0220686	ordo_malformation_syndrome
MONDO:0007836	biolink:Disease	IVIC syndrome	IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.	DOID:0111381|GARD:0000269|OMIM:147750|Orphanet:2307|UMLS:C1327918|MESH:C535544|SCTID:722019000	mondo.json	oculootoradial syndrome|radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia|radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia|OORS|oculo-oto-radial syndrome|Instituto venezolano de Investigaciones Cientificas syndrome|IVIC syndrome	http://purl.obolibrary.org/obo/MONDO_0007836	Orphanet:2307|DOID:0111381|https://omim.org/entry/147750|UMLS:C1327918|http://identifiers.org/mesh/C535544|http://identifiers.org/snomedct/722019000	ordo_malformation_syndrome|gard_rare
NCBITaxon:318477	biolink:OrganismalEntity	Dracunculidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_318477		
MONDO:0007837	biolink:Disease	Johnson neuroectodermal syndrome	Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.	UMLS:C0796002|GARD:0000378|Orphanet:2316|OMIM:147770|MESH:C535882|SCTID:721584005	mondo.json	alopecia anosmia deafness hypogonadism syndrome|alopecia-anosmia-deafness-hypogonadism syndrome|Johnson neuroectodermal syndrome|Johnson-McMillin syndrome|alopecia-anosmia-conductive hearing loss-hypogonadism syndrome|Aadh syndrome	http://purl.obolibrary.org/obo/MONDO_0007837	Orphanet:2316|https://omim.org/entry/147770|http://identifiers.org/snomedct/721584005|http://identifiers.org/mesh/C535882|UMLS:C0796002	gard_rare|ordo_malformation_syndrome
MONDO:0007834	biolink:Disease	islet cell adenomatosis	A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia.	MESH:C563258|UMLS:C1578917|OMIM:147630|NCIT:C4375|SCTID:274944000	mondo.json	INSULINOMATOSIS and diabetes mellitus|Insulinomatosis and diabetes mellitus|INSDM|nesidioblastosis|islet cell adenomatosis	http://purl.obolibrary.org/obo/MONDO_0007834	https://omim.org/entry/147630|http://identifiers.org/snomedct/274944000|http://identifiers.org/mesh/C563258|UMLS:C1578917|NCIT:C4375	
NCBITaxon:318479	biolink:OrganismalEntity	Dracunculus medinensis		GC_ID:1	mondo.json	dracunculiasis worm|Guinea worm disease nematode|Guinea worm	http://purl.obolibrary.org/obo/NCBITaxon_318479		
MONDO:0007835	biolink:Disease	intussusception	Telescoping or invagination of a part of the intestine into an adjacent segment.	ICD10CM:K56.1|MESH:D007443|UMLS:C0021933|ICD9:560.0|DOID:8446|SCTID:49723003|OMIM:147710	mondo.json	intussusception (morphologic abnormality)|intussusception of intestine|invagination of intestine or colon|intussusception	http://purl.obolibrary.org/obo/MONDO_0007835	http://identifiers.org/snomedct/49723003|https://omim.org/entry/147710|http://purl.bioontology.org/ontology/ICD10CM/K56.1|http://identifiers.org/mesh/D007443|DOID:8446|UMLS:C0021933	
NCBITaxon:318478	biolink:OrganismalEntity	Dracunculus <nematodes>		GC_ID:1	mondo.json	Dracunculus	http://purl.obolibrary.org/obo/NCBITaxon_318478		
MONDO:0007832	biolink:Disease	interferon antiviral depressor		OMIM:147560	mondo.json	interferon antiviral depressor	http://purl.obolibrary.org/obo/MONDO_0007832	https://omim.org/entry/147560	
MONDO:0007833	biolink:Disease	iris pigment layer, cleavage of		OMIM:147610	mondo.json	iris pigment layer, cleavage of	http://purl.obolibrary.org/obo/MONDO_0007833	https://omim.org/entry/147610	
HGNC:2877	biolink:NamedThing	DIAPH2			mondo.json		http://identifiers.org/hgnc/2877		
MONDO:0007830	biolink:Disease	insensitivity to pain with hyperplastic Myelinopathy		OMIM:147530	mondo.json	insensitivity to pain with hyperplastic Myelinopathy	http://purl.obolibrary.org/obo/MONDO_0007830	https://omim.org/entry/147530	
MONDO:0007831	biolink:Disease	insect Stings, hypersensitivity to		OMIM:147540	mondo.json	insect Stings, hypersensitivity to	http://purl.obolibrary.org/obo/MONDO_0007831	https://omim.org/entry/147540	
UBERON:0016435	biolink:AnatomicalEntity	chest wall			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016435		
MONDO:0019805	biolink:Disease	twin to twin transfusion syndrome	Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated	NCIT:C113824|SCTID:13404009|MedDRA:10058328|GARD:0000325|EFO:1001221|Orphanet:95431|DOID:13576|UMLS:CN206761|MESH:D005330	mondo.json	fetal blood loss from fetal hemorrhage into co-twin|Feto-fetal transfusion syndrome|stuck Twin syndrome|fetal hemorrhage into co-twin|Twin to twin transfusion|Fetofetal transfusion syndrome|Twin-to-twin blood transfer|placental transfusion syndrome|TTTS|fetal transfusion syndrome|Twin-Twin transfusion syndrome|twin-to-twin transfusion syndrome	http://purl.obolibrary.org/obo/MONDO_0019805	http://identifiers.org/snomedct/13404009|DOID:13576|Orphanet:95431|UMLS:CN206761|http://identifiers.org/mesh/D005330|NCIT:C113824	ordo_disease
UBERON:0004451	biolink:AnatomicalEntity	trunk or cervical vertebra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004451		
MONDO:0019804	biolink:Disease	tracheomalacia	Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.	SCTID:95467005|GARD:0010515|UMLS:C0948187|MESH:D055090|HP:0002779|MedDRA:10010654|Orphanet:95430|DOID:0060313|ICD9:748.3|NCIT:C98634	mondo.json	congenital tracheomalacia|type 1 tracheomalacia|congenital major airway collapse|tracheomalacia, congenital	http://purl.obolibrary.org/obo/MONDO_0019804	UMLS:C0948187|http://identifiers.org/mesh/D055090|DOID:0060313|Orphanet:95430|NCIT:C98634|http://identifiers.org/snomedct/95467005	ordo_morphological_anomaly
UBERON:0004452	biolink:AnatomicalEntity	carpal region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004452		
MONDO:0019807	biolink:Disease	mesocardia		ICD9:746.87|Orphanet:95443|HP:0011599|SCTID:16567006	mondo.json	mesocardia|mesocardia (disease)|Midline heart	http://purl.obolibrary.org/obo/MONDO_0019807	http://identifiers.org/snomedct/16567006|Orphanet:95443	ordo_morphological_anomaly
MONDO:0019806	biolink:Disease	primary progressive aphasia	Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA).	NCIT:C85024|GARD:0008541|EFO:0009053|MESH:D018888|UMLS:C0282513|Orphanet:95432	mondo.json	primary progressive aphasia syndrome|Mesulam syndrome|PPA	http://purl.obolibrary.org/obo/MONDO_0019806	UMLS:C0282513|NCIT:C85024|Orphanet:95432|http://identifiers.org/mesh/D018888	ordo_group_of_disorders|disease_grouping
MONDO:0019801	biolink:Disease	acute adrenal insufficiency	Acute adrenal insufficiency (AAI) is a rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made.	NCIT:C112840|SCTID:24867002|UMLS:C0151467|ICD9:255.41|Orphanet:95409	mondo.json	acute adrenal failure|adrenal crisis|acute adrenocortical insufficiency|adrenocortical crisis|Addisonian crisis	http://purl.obolibrary.org/obo/MONDO_0019801	UMLS:C0151467|http://identifiers.org/snomedct/24867002|Orphanet:95409|NCIT:C112840	ordo_clinical_syndrome
GO:0140375	biolink:NamedThing	immune receptor activity	Receiving a signal and transmitting it in a cell to initiate an immune response.		mondo.json		http://purl.obolibrary.org/obo/GO_0140375		
MONDO:0019800	biolink:Disease	chronic hepatic porphyria	Chronic hepatic porphyrias represent a sub-group of porphyrias. They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare).	Orphanet:95161	mondo.json	chronic acute hepatic porphyria|acute hepatic porphyria, chronic	http://purl.obolibrary.org/obo/MONDO_0019800	Orphanet:95161	disease_grouping|ordo_group_of_disorders
MONDO:0019803	biolink:Disease	angioma serpiginosum	Angioma serpiginosum (AS) is a benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko.	UMLS:CN206759|NCIT:C3926|SCTID:49465005|DOID:4028|Orphanet:95429	mondo.json	angioma serpiginosum of skin	http://purl.obolibrary.org/obo/MONDO_0019803	NCIT:C3926|DOID:4028|Orphanet:95429|UMLS:CN206759|http://identifiers.org/snomedct/49465005	ordo_disease
MONDO:0019802	biolink:Disease	secondary short bowel syndrome	Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.	Orphanet:95427|UMLS:CN206757	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019802	Orphanet:95427|UMLS:CN206757	ordo_disease
UBERON:0004455	biolink:AnatomicalEntity	neurula embryo			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004455		
UBERON:0004456	biolink:AnatomicalEntity	entire sense organ system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004456		
MONDO:0007829	biolink:Disease	cholestasis, intrahepatic, of pregnancy, 1		DOID:0070228|UMLS:C3549845|OMIM:147480	mondo.json	cholestasis, pregnancy-related, 1|cholestasis, intrahepatic, of pregnancy, type 1|ICP1|cholestasis, intrahepatic, of pregnancy, 1	http://purl.obolibrary.org/obo/MONDO_0007829	DOID:0070228|https://omim.org/entry/147480|UMLS:C3549845	
UBERON:0004453	biolink:AnatomicalEntity	metacarpus region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004453		
UBERON:0004454	biolink:AnatomicalEntity	tarsal region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004454		
MONDO:0007805	biolink:Disease	hypotrichosis 2	Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene.	OMIM:146520|MESH:C564143|DOID:0110699	mondo.json	HYPT2|hypotrichosis type 2|CDSN hypotrichosis|hypotrichosis caused by mutation in CDSN|Spanish type hypotrichosis|hypotrichosis 2|Htss|hypotrichosis simplex of the scalp 1|hypt2|hypotrichosis, Spanish type	http://purl.obolibrary.org/obo/MONDO_0007805	https://omim.org/entry/146520|http://identifiers.org/mesh/C564143|DOID:0110699	
HGNC:20297	biolink:NamedThing	SLITRK1			mondo.json		http://identifiers.org/hgnc/20297		
MONDO:0007806	biolink:Disease	hypotrichosis 4	Any hypotrichosis in which the cause of the disease is a mutation in the HR gene.	MESH:C567718|UMLS:C2750815|OMIM:146550|DOID:0110701	mondo.json	hypotrichosis type 4|hypotrichosis 4|Muhh1|HYPT4|hypotrichosis caused by mutation in HR|HR hypotrichosis|hypotrichosis, Marie Unna type, 1|Marie Unna hereditary hypotrichosis 1|hypt4	http://purl.obolibrary.org/obo/MONDO_0007806	UMLS:C2750815|http://identifiers.org/mesh/C567718|https://omim.org/entry/146550|DOID:0110701	obsoletion_candidate
MONDO:0007803	biolink:Disease	multiple system atrophy	Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.	EFO:1001050|MedDRA:10064060|GARD:0007079|UMLS:C0393571|UMLS:C0037019|MESH:D019578|Orphanet:102|DOID:4752|OMIM:146500|NCIT:C84909	mondo.json	Shy-dragger syndrome (formerly)|MSA|susceptibility to multiple system atrophy 1|Shy-Drager syndrome|hypotension, orthostatic|autonomic failure, Pure|multisystem atrophy	http://purl.obolibrary.org/obo/MONDO_0007803	UMLS:C0393571|NCIT:C84909|UMLS:C0037019|Orphanet:102|DOID:4752|http://identifiers.org/mesh/D019578	ordo_disease
MONDO:0007804	biolink:Disease	Pallister-Hall syndrome	Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.	MESH:D054975|ICD9:759.89|SCTID:56677004|UMLS:C0265220|OMIM:146510|Orphanet:672|NCIT:C84987|GARD:0007305|DOID:9248	mondo.json	PHS|ano-cerebro-digital syndrome|hypothalamic hamartoblastoma syndrome|Pallister-Hall syndrome|hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly|Pallister Hall syndrome	http://purl.obolibrary.org/obo/MONDO_0007804	DOID:9248|http://identifiers.org/snomedct/56677004|NCIT:C84987|UMLS:C0265220|Orphanet:672|https://omim.org/entry/146510|http://identifiers.org/mesh/D054975	ordo_malformation_syndrome|gard_rare
MONDO:0007801	biolink:Disease	obsolete hypoplasia of teeth roots		OMIM:146400|Orphanet:99789|MESH:C564144	mondo.json	hypoplasia of teeth roots	http://purl.obolibrary.org/obo/MONDO_0007801	https://omim.org/entry/146400|http://identifiers.org/mesh/C564144	
MONDO:0007802	biolink:Disease	hypospadias 3, autosomal		UMLS:C2675154|MESH:C567191|OMIM:146450	mondo.json	hypospadias 3, autosomal, multifactorial|hypospadias 3, autosomal|HYSP3	http://purl.obolibrary.org/obo/MONDO_0007802	http://identifiers.org/mesh/C567191|UMLS:C2675154|https://omim.org/entry/146450	
HGNC:2889	biolink:NamedThing	DISC2			mondo.json		http://identifiers.org/hgnc/2889		
UBERON:0004439	biolink:AnatomicalEntity	proximal epiphysis of middle phalanx of manual digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004439		
MONDO:0007800	biolink:Disease	chromosome 18p deletion syndrome	Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18.	GARD:0008631|SCTID:270890001|Orphanet:261974|DOID:0060406|NCIT:C84521|OMIM:146390|MESH:C538309|ICD9:758.39|UMLS:C0432442|Orphanet:1598	mondo.json	18p-|partial deletion of the short arm of chromosome 18|chromosome 18p deletion syndrome|partial monosomy of the short arm of chromosome 18|chromosome 18p deletion|De Grouchy syndrome|partial deletion of chromosome 18p|18p syndrome|deletion 18p syndrome|partial deletion of the short arm of chromosome type 18|monosomy type 18p|partial monosomy of chromosome 18p|monosomy 18p	http://purl.obolibrary.org/obo/MONDO_0007800	NCIT:C84521|http://identifiers.org/snomedct/270890001|http://identifiers.org/mesh/C538309|Orphanet:261974|Orphanet:1598|https://omim.org/entry/146390|UMLS:C0432442|DOID:0060406	ordo_disease|disease_grouping
HGNC:2888	biolink:NamedThing	DISC1			mondo.json		http://identifiers.org/hgnc/2888		
UBERON:0016426	biolink:AnatomicalEntity	proximal interphalangeal joint of little finger			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016426		
CHEBI:33658	biolink:ChemicalSubstance	arene	Any monocyclic or polycyclic aromatic hydrocarbon.		mondo.json	aromatic hydrocarbons|arene|arenes	http://purl.obolibrary.org/obo/CHEBI_33658		
PATO:0002129	biolink:NamedThing	neoplastic, invasive	A disposition inhering in a tumour by virtue of the bearer's disposition to invade surrounding tissues.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002129		
CHEBI:33659	biolink:ChemicalSubstance	organic aromatic compound			mondo.json	organic aromatic compounds	http://purl.obolibrary.org/obo/CHEBI_33659		
HGNC:2890	biolink:NamedThing	DKC1			mondo.json		http://identifiers.org/hgnc/2890		
PATO:0002124	biolink:NamedThing	laminar	A quality inhering in a bearer by virtue of the bearer's processing the form of a thin plate sheet or layer.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002124		
CHEBI:33653	biolink:ChemicalSubstance	aliphatic compound	Any acyclic or cyclic, saturated or unsaturated carbon compound, excluding aromatic compounds.		mondo.json	aliphatic compounds	http://purl.obolibrary.org/obo/CHEBI_33653		
CHEBI:33654	biolink:ChemicalSubstance	alicyclic compound	An aliphatic compound having a carbocyclic ring structure which may be saturated or unsaturated, but may not be a benzenoid or other aromatic system.		mondo.json	alicyclic compounds	http://purl.obolibrary.org/obo/CHEBI_33654		
CHEBI:33655	biolink:ChemicalSubstance	aromatic compound	A cyclically conjugated molecular entity with a stability (due to delocalization) significantly greater than that of a hypothetical localized structure (e.g. Kekule structure) is said to possess aromatic character.		mondo.json	aromatic compounds|aromatics|aromatische Verbindungen|aromatic molecular entity	http://purl.obolibrary.org/obo/CHEBI_33655		
HGNC:2898	biolink:NamedThing	DLD			mondo.json		http://identifiers.org/hgnc/2898		
UBERON:0004448	biolink:AnatomicalEntity	distal epiphysis of phalanx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004448		
HGNC:2897	biolink:NamedThing	DLC1			mondo.json		http://identifiers.org/hgnc/2897		
UBERON:0004449	biolink:AnatomicalEntity	cerebral artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004449		
HGNC:2896	biolink:NamedThing	DLAT			mondo.json		http://identifiers.org/hgnc/2896		
UBERON:0004446	biolink:AnatomicalEntity	epiphysis of phalanx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004446		
CHEBI:18059	biolink:ChemicalSubstance	lipid	'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids.		mondo.json	lipids|Lipid	http://purl.obolibrary.org/obo/CHEBI_18059		
HGNC:2895	biolink:NamedThing	EDAR			mondo.json		http://identifiers.org/hgnc/2895		
UBERON:0004447	biolink:AnatomicalEntity	proximal epiphysis of phalanx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004447		
UBERON:0004444	biolink:AnatomicalEntity	proximal epiphysis of distal phalanx of manual digit 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004444		
UBERON:0004445	biolink:AnatomicalEntity	proximal epiphysis of proximal phalanx of manual digit 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004445		
UBERON:0004443	biolink:AnatomicalEntity	proximal epiphysis of proximal phalanx of manual digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004443		
MONDO:0007816	biolink:Disease	obsolete immune suppression		OMIM:146850|UMLS:C1840264	mondo.json	streptococcal cell wall antigen, suppression of immune response to|IS|Iscw|immune suppression	http://purl.obolibrary.org/obo/MONDO_0007816	https://omim.org/entry/146850|UMLS:C1840264	
MONDO:0007817	biolink:Disease	IgE responsiveness, atopic	Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue.	OMIM:147050|NCIT:C3116|MESH:C564133|UMLS:C1840253	mondo.json	immediate hypersensitivity|type 1 hypersensitivity reaction|type I hypersensitivity|atopy, susceptibility to|IgE, elevated level of|IgE responsiveness, ATOPIC|IgE responsiveness, atopic|Atopic hypersensitivity|type I immediate hypersensitivity reaction|type I hypersensitivity reaction|type 1 hypersensitivity|Immunoglobulin E, basic level of, in serum|IgE response underlying allergic asthma and rhinitis|IgE, level of|IGER	http://purl.obolibrary.org/obo/MONDO_0007817	NCIT:C3116|https://omim.org/entry/147050|http://identifiers.org/mesh/C564133|UMLS:C1840253	
MONDO:0007814	biolink:Disease	immune deficiency, familial variable		OMIM:146830|UMLS:C1840266|MESH:C564136|GARD:0002984	mondo.json	immune deficiency, familial variable	http://purl.obolibrary.org/obo/MONDO_0007814	http://identifiers.org/mesh/C564136|https://omim.org/entry/146830|UMLS:C1840266	gard_rare
MONDO:0007815	biolink:Disease	obsolete immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007815		
MONDO:0007812	biolink:Disease	ichthyosis, lamellar, autosomal dominant		MESH:C537263|OMIM:146750|GARD:0009735|SCTID:254164007	mondo.json	lamellar ichthyosis, autosomal dominant|ichthyosis lamellar, autosomal dominant|ichthyosis, lamellar, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007812	http://identifiers.org/mesh/C537263|http://identifiers.org/snomedct/254164007|https://omim.org/entry/146750	gard_rare
MONDO:0007813	biolink:Disease	superficial epidermolytic ichthyosis	Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth.	DOID:0060877|GARD:0002966|OMIM:146800|SCTID:254169002|NCIT:C84777|Orphanet:455|MESH:D053560|UMLS:C0432306	mondo.json	SEI|ichthyosis bullosa of Siemens|superficial epidermolytic ichthyosis|bullous type of ichthyosis|ichthyosis exfoliativa|bullous type ichthyosis|ichthyosis, bullous type|IBS	http://purl.obolibrary.org/obo/MONDO_0007813	http://identifiers.org/snomedct/254169002|NCIT:C84777|Orphanet:455|UMLS:C0432306|http://identifiers.org/mesh/D053560|https://omim.org/entry/146800|DOID:0060877	ordo_disease|gard_rare
MONDO:0007810	biolink:Disease	autosomal dominant ichthyosis vulgaris	Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern.	DOID:1702|NCIT:C84778|OMIM:146700|GARD:0001897|UMLS:C0079584|SCTID:254157005|ICD10CM:Q80.0|MESH:D016112|Orphanet:462	mondo.json	dominant ichthyosis vulgaris|autosomal dominant ichthyosis vulgaris|ichthyosis vulgaris|ichthyosis simplex|ichthyosis vulgaris, autosomal dominant|dominant congenital ichthyosiform erythroderma	http://purl.obolibrary.org/obo/MONDO_0007810	Orphanet:462|UMLS:C0079584|https://omim.org/entry/146700|http://purl.bioontology.org/ontology/ICD10CM/Q80.0|DOID:1702|http://identifiers.org/snomedct/254157005|http://identifiers.org/mesh/D016112	gard_rare|obsoletion_candidate
MONDO:0007811	biolink:Disease	ichthyosis-cheek-eyebrow syndrome	Ichthyosis-cheek-eyebrow syndrome is characterised by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant.	GARD:0002947|OMIM:146720|MESH:C536084|Orphanet:2267|SCTID:716097001	mondo.json	Sidransky-Feinstein-Goodman syndrome|Sidransky Feinstein Goodman syndrome|ichthyosis cheek eyebrow syndrome|ichthyosis--cheek--eyebrow syndrome|Ice syndrome	http://purl.obolibrary.org/obo/MONDO_0007811	Orphanet:2267|http://identifiers.org/mesh/C536084|https://omim.org/entry/146720|http://identifiers.org/snomedct/716097001	ordo_disease
HGNC:2899	biolink:NamedThing	DLEC1			mondo.json		http://identifiers.org/hgnc/2899		
UBERON:0016410	biolink:AnatomicalEntity	male breast			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016410		
CHEBI:33661	biolink:ChemicalSubstance	monocyclic compound			mondo.json	monocyclic compounds	http://purl.obolibrary.org/obo/CHEBI_33661		
NCBITaxon:8492	biolink:OrganismalEntity	Archosauria		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_8492		
PATO:0002132	biolink:NamedThing	neoplastic, non-invasive	A disposition inhering in a tumour by virtue of the bearer's disposition not to invade surrounding tissues.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002132		
CHEBI:33662	biolink:ChemicalSubstance	annulene	A mancude monocyclic hydrocarbon without side chains of the general formula CnHn (n is an even number) or CnHn+1 (n is an odd number). In systematic nomenclature an annulene with seven or more carbon atoms may be named [n]annulene, where n is the number of carbon atoms.		mondo.json	annulenes|annulene	http://purl.obolibrary.org/obo/CHEBI_33662		
CHEBI:33663	biolink:ChemicalSubstance	cyclic hydrocarbon			mondo.json	cyclic hydrocarbons|cyclic hydrocarbon	http://purl.obolibrary.org/obo/CHEBI_33663		
CHEBI:33664	biolink:ChemicalSubstance	monocyclic hydrocarbon			mondo.json	monocyclic hydrocarbons|monocyclic hydrocarbon|monocyclic hydrocarbons	http://purl.obolibrary.org/obo/CHEBI_33664		
CHEBI:33666	biolink:ChemicalSubstance	polycyclic hydrocarbon			mondo.json	polycyclic hydrocarbon|polycyclic hydrocarbons	http://purl.obolibrary.org/obo/CHEBI_33666		
CHEBI:18049	biolink:ChemicalSubstance	piperidine	An azacycloalkane that is cyclohexane in which one of the carbons is replaced by a nitrogen. It is a metabolite of cadaverine, a polyamine found in the human intestine.		mondo.json	pentamethyleneamine|azinane|pip|Hexahydropyridine|Piperidine|piperidine|Azacyclohexane|pentamethyleneimine|hexazane|cypentil|Piperidin|cyclopentimine|perhydropyridine|pentamethylenimine	http://purl.obolibrary.org/obo/CHEBI_18049		
FOODON:00001109	biolink:NamedThing	caprine dairy food product			mondo.json		http://purl.obolibrary.org/obo/FOODON_00001109		
UBERON:0004435	biolink:AnatomicalEntity	proximal epiphysis of distal phalanx of manual digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004435		
FOODON:00001107	biolink:NamedThing	bovine dairy food product			mondo.json		http://purl.obolibrary.org/obo/FOODON_00001107		
MONDO:0007809	biolink:Disease	ichthyosis hystrix gravior		ICD9:757.39|ICD10CM:Q80.0|MESH:C536087|SCTID:254174005|GARD:0009497|OMIM:146600|Orphanet:79504	mondo.json	Lambert type ichthyosis|ichthyosis, Lambert type|ichthyosis hystrix gravior|porcupine Man	http://purl.obolibrary.org/obo/MONDO_0007809	Orphanet:79504|http://identifiers.org/snomedct/254174005|http://identifiers.org/mesh/C536087|https://omim.org/entry/146600	gard_rare|ordo_disease
MONDO:0007807	biolink:Disease	hypoxanthine guanine phosphoribosyltransferase suppressor		OMIM:146580	mondo.json	hypoxanthine guanine phosphoribosyltransferase suppressor	http://purl.obolibrary.org/obo/MONDO_0007807	https://omim.org/entry/146580	
UBERON:0004431	biolink:AnatomicalEntity	proximal epiphysis of fifth metatarsal bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004431		
MONDO:0007808	biolink:Disease	ichthyosis hystrix of Curth-Macklin	Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK).	Orphanet:79503|OMIM:146590|ICD9:757.39|MESH:C536088|SCTID:254170001|UMLS:C1840296|GARD:0002954	mondo.json	IHCM|Curth-Macklin type ichthyosis hystrix|ichthyosis hystrix, Curth-Macklin type|ichthyosis histrix, curth-macklin type|ichthyosis hystrix, Curth Macklin type|ichthyosis HYSTRIX, Curth-Macklin type	http://purl.obolibrary.org/obo/MONDO_0007808	Orphanet:79503|UMLS:C1840296|http://identifiers.org/snomedct/254170001|http://identifiers.org/mesh/C536088|https://omim.org/entry/146590	ordo_disease
GO:0007599	biolink:NamedThing	hemostasis	The stopping of bleeding (loss of body fluid) or the arrest of the circulation to an organ or part.		mondo.json		http://purl.obolibrary.org/obo/GO_0007599		
HP:0100360	biolink:PhenotypicFeature	Contractures of the joints of the upper limbs		UMLS:C2750635	mondo.json		http://purl.obolibrary.org/obo/HP_0100360		
GO:0007596	biolink:NamedThing	blood coagulation	The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers.		mondo.json	blood clotting	http://purl.obolibrary.org/obo/GO_0007596		
GO:0007595	biolink:NamedThing	lactation	The regulated release of milk from the mammary glands and the period of time that a mother lactates to feed her young.		mondo.json	milk secretion	http://purl.obolibrary.org/obo/GO_0007595		
NCBITaxon:223472	biolink:OrganismalEntity	Psoroptidia		GC_ID:1	mondo.json	Sarcoptidia	http://purl.obolibrary.org/obo/NCBITaxon_223472		
GO:0032543	biolink:NamedThing	mitochondrial translation	The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code.		mondo.json	mitochondrial protein anabolism|mitochondrial protein synthesis|mitochondrial protein formation|mitochondrial protein translation|mitochondrial protein biosynthesis	http://purl.obolibrary.org/obo/GO_0032543		
MONDO:0017093	biolink:Disease	unilateral focal polymicrogyria	Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.	Orphanet:268947	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017093	Orphanet:268947	ordo_clinical_subtype
MONDO:0017094	biolink:Disease	cerebral cortical dysplasia	Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay.	NCIT:C42088|MESH:D054220|SCTID:253153000|Orphanet:268950	mondo.json	cortical dysplasia|brain cortical dysplasia	http://purl.obolibrary.org/obo/MONDO_0017094	http://identifiers.org/snomedct/253153000|http://identifiers.org/mesh/D054220|Orphanet:268950|NCIT:C42088	ordo_group_of_disorders|disease_grouping
MONDO:0017095	biolink:Disease	isolated focal cortical dysplasia type I		Orphanet:268961|UMLS:CN202452	mondo.json	FCD type I	http://purl.obolibrary.org/obo/MONDO_0017095	Orphanet:268961|UMLS:CN202452	ordo_clinical_subtype
HGNC:20376	biolink:NamedThing	SUMF1			mondo.json		http://identifiers.org/hgnc/20376		
MONDO:0017096	biolink:Disease	isolated focal cortical dysplasia type Ia		Orphanet:268973|UMLS:CN202453	mondo.json	FCD type Ia	http://purl.obolibrary.org/obo/MONDO_0017096	UMLS:CN202453|Orphanet:268973	ordo_histopathological_subtype
MONDO:0017090	biolink:Disease	midline cerebral malformation		Orphanet:268926	mondo.json	Midline brain malformation	http://purl.obolibrary.org/obo/MONDO_0017090	Orphanet:268926	ordo_group_of_disorders|disease_grouping
MONDO:0017091	biolink:Disease	bilateral polymicrogyria	Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.	SCTID:765757003|Orphanet:268940	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017091	Orphanet:268940|http://identifiers.org/snomedct/765757003	ordo_morphological_anomaly
MONDO:0017092	biolink:Disease	unilateral polymicrogyria	Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria.	SCTID:715905006|Orphanet:268943|UMLS:C4024960	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017092	Orphanet:268943|http://identifiers.org/snomedct/715905006|UMLS:C4024960	ordo_morphological_anomaly
HGNC:19380	biolink:NamedThing	RNU12			mondo.json		http://identifiers.org/hgnc/19380		
HGNC:20371	biolink:NamedThing	NDUFA11			mondo.json		http://identifiers.org/hgnc/20371		
HGNC:20372	biolink:NamedThing	NDUFB11			mondo.json		http://identifiers.org/hgnc/20372		
HGNC:20373	biolink:NamedThing	SPG21			mondo.json		http://identifiers.org/hgnc/20373		
NCBITaxon:2605435	biolink:OrganismalEntity	Evosea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2605435		
MONDO:0017097	biolink:Disease	isolated focal cortical dysplasia type Ib		UMLS:CN202454|Orphanet:268980	mondo.json	FCD type IB	http://purl.obolibrary.org/obo/MONDO_0017097	UMLS:CN202454|Orphanet:268980	ordo_histopathological_subtype
MONDO:0017098	biolink:Disease	isolated focal cortical dysplasia type Ic		Orphanet:268987|UMLS:CN202455	mondo.json	FCD type Ic	http://purl.obolibrary.org/obo/MONDO_0017098	UMLS:CN202455|Orphanet:268987	ordo_histopathological_subtype
NCBITaxon:8287	biolink:OrganismalEntity	Sarcopterygii		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_8287		
MONDO:0017099	biolink:Disease	obsolete facioscapulohumeral dystrophy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017099		
MONDO:0017082	biolink:Disease	basal encephalocele		Orphanet:268829|UMLS:C4023176	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017082	Orphanet:268829|UMLS:C4023176	ordo_clinical_subtype
MONDO:0017083	biolink:Disease	obsolete lipoma associated with neurospinal dysraphism		Orphanet:268832	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017083	Orphanet:268832	disease_grouping|ordo_group_of_disorders
MONDO:0017084	biolink:Disease	leptomyelolipoma	Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present.	Orphanet:268838	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017084	Orphanet:268838	ordo_morphological_anomaly
MONDO:0017085	biolink:Disease	obsolete malformation of the neurenteric canal, spinal cord and column		Orphanet:268843	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017085	Orphanet:268843	disease_grouping|ordo_group_of_disorders
HGNC:20389	biolink:NamedThing	RETN			mondo.json		http://identifiers.org/hgnc/20389		
MONDO:0017080	biolink:Disease	occipital encephalocele		Orphanet:268823|ICD10CM:Q01.2|SCTID:42376006	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017080	http://identifiers.org/snomedct/42376006|Orphanet:268823|http://purl.bioontology.org/ontology/ICD10CM/Q01.2	ordo_clinical_subtype
GO:0007589	biolink:NamedThing	body fluid secretion	The controlled release of a fluid by a cell or tissue in an animal.		mondo.json		http://purl.obolibrary.org/obo/GO_0007589		
MONDO:0017081	biolink:Disease	parietal encephalocele		SCTID:253109005|Orphanet:268826	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017081	Orphanet:268826|http://identifiers.org/snomedct/253109005	ordo_clinical_subtype
GO:0007588	biolink:NamedThing	excretion	The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds.		mondo.json		http://purl.obolibrary.org/obo/GO_0007588		
GO:0007586	biolink:NamedThing	digestion	The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism.		mondo.json		http://purl.obolibrary.org/obo/GO_0007586		
GO:0007585	biolink:NamedThing	respiratory gaseous exchange by respiratory system	The process of gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms.		mondo.json	breathing|respiration	http://purl.obolibrary.org/obo/GO_0007585		
GO:0007584	biolink:NamedThing	response to nutrient	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nutrient stimulus.		mondo.json	response to nutrients|nutritional response pathway	http://purl.obolibrary.org/obo/GO_0007584		
CHEBI:176894	biolink:ChemicalSubstance	vitamin B6 phosphate anion			mondo.json	vitamin B6 phosphate anions|vitamin B-6 phosphate anion|vitamin B-6 phosphate anions	http://purl.obolibrary.org/obo/CHEBI_176894		
MONDO:0017086	biolink:Disease	primary tethered cord syndrome	Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.	UMLS:CN202446|GARD:0004018|Orphanet:268861|SCTID:70534000	mondo.json	segmental vertebral anomalies|primary tethered spinal cord syndrome|tethered cord syndrome|occult spinal dysraphism sequence|occult spinal dysraphism	http://purl.obolibrary.org/obo/MONDO_0017086	UMLS:CN202446|Orphanet:268861|http://identifiers.org/snomedct/70534000	ordo_morphological_anomaly
MONDO:0017087	biolink:Disease	neurenteric cyst		Orphanet:268865	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017087	Orphanet:268865	ordo_morphological_anomaly
MONDO:0017088	biolink:Disease	isolated amyelia		Orphanet:268868	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017088	Orphanet:268868	ordo_morphological_anomaly
MONDO:0017089	biolink:Disease	isolated megalencephaly	A megalencephaly (disease) that is not part of a larger syndrome.	Orphanet:268920	mondo.json	nonsyndromic megalencephaly (disease)|isolated megalencephaly (disease)|isolated macrencephaly	http://purl.obolibrary.org/obo/MONDO_0017089	Orphanet:268920	ordo_clinical_subtype
MONDO:0044690	biolink:Disease	optic perineuritis		SCTID:713417000|UMLS:C4076165|Orphanet:499107	mondo.json	OPN	http://purl.obolibrary.org/obo/MONDO_0044690	http://identifiers.org/snomedct/713417000|Orphanet:499107|UMLS:C4076165	ordo_disease
MONDO:0030049	biolink:Disease	46,xx sex reversal 5		OMIM:618901	mondo.json	SRXX5|46,xx sex reversal 5|46,XX SEX REVERSAL 5	http://purl.obolibrary.org/obo/MONDO_0030049	https://omim.org/entry/618901	
FOODON:03315173	biolink:NamedThing	fish product (unspecified species)	A fish product is a home-made or commercially produced or retail or wholesale product containing substantial amounts of freshwater or saltwater fish and/or shellfish flesh. Note that this category should avoid items that mention a particular species of fish or shellfish.	SUBSET_SIREN:F15173	mondo.json		http://purl.obolibrary.org/obo/FOODON_03315173		"subset_siren"
MONDO:0044699	biolink:Disease	SIN3A-related intellectual disability syndrome		Orphanet:500163	mondo.json		http://purl.obolibrary.org/obo/MONDO_0044699	Orphanet:500163	ordo_malformation_syndrome
MONDO:0044696	biolink:Disease	early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome		UMLS:CN474476|OMIM:617669|Orphanet:500144	mondo.json	encephalopathy, progressive, early-onset, with brain atrophy and spasticity|PEBAS	http://purl.obolibrary.org/obo/MONDO_0044696	https://omim.org/entry/617669|Orphanet:500144|UMLS:CN474476	ordo_malformation_syndrome
MONDO:0030051	biolink:Disease	intellectual developmental disorder with autistic features and language delay, with or without seizures		OMIM:618906	mondo.json	IDDALDS|intellectual developmental disorder with autistic features and language delay, with or without seizures|INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES	http://purl.obolibrary.org/obo/MONDO_0030051	https://omim.org/entry/618906	
GO:0019538	biolink:NamedThing	protein metabolic process	The chemical reactions and pathways involving a protein. Includes protein modification.		mondo.json	multicellular organismal protein metabolic process|cellular protein metabolic process|protein metabolic process and modification|protein metabolism and modification|cellular protein metabolism|protein metabolism	http://purl.obolibrary.org/obo/GO_0019538		
MONDO:0030057	biolink:Disease	neurodevelopmental, jaw, eye, and digital syndrome		OMIM:618914	mondo.json	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME|neurodevelopmental, jaw, eye, and digital syndrome|NEDJED	http://purl.obolibrary.org/obo/MONDO_0030057	https://omim.org/entry/618914	
MONDO:0030056	biolink:Disease	Fanconi renotubular syndrome 5		OMIM:618913	mondo.json	Fanconi Renotubular Syndrome, Acadian Variant|FRTS5|Fanconi renotubular syndrome 5|FANCONI RENOTUBULAR SYNDROME 5	http://purl.obolibrary.org/obo/MONDO_0030056	https://omim.org/entry/618913	
MONDO:0030059	biolink:Disease	developmental and epileptic encephalopathy, 87		OMIM:618916	mondo.json	developmental and epileptic encephalopathy 87|epileptic encephalopathy, early infantile, 87|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87|DEE87|EIEE87	http://purl.obolibrary.org/obo/MONDO_0030059	https://omim.org/entry/618916	
MONDO:0030058	biolink:Disease	hearing loss, autosomal dominant 77		OMIM:618915	mondo.json	deafness, autosomal dominant 77|DFNA77	http://purl.obolibrary.org/obo/MONDO_0030058	https://omim.org/entry/618915	
UBERON:0004502	biolink:AnatomicalEntity	skeletal muscle tissue of biceps brachii			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004502		
HGNC:19368	biolink:NamedThing	HYDIN			mondo.json		http://identifiers.org/hgnc/19368		
UBERON:0004500	biolink:AnatomicalEntity	skeletal muscle tissue of deltoid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004500		
MONDO:0030052	biolink:Disease	obsolete disease with punctate palmoplantar keratoderma as a major feature			mondo.json		http://purl.obolibrary.org/obo/MONDO_0030052		
MONDO:0030055	biolink:Disease	sorbitol dehydrogenase deficiency with peripheral neuropathy		OMIM:618912	mondo.json	Sorbitol Dehydrogenase Deficiency|sorbitol dehydrogenase deficiency with peripheral neuropathy|SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY|SORDD	http://purl.obolibrary.org/obo/MONDO_0030055	https://omim.org/entry/618912	
MONDO:0030054	biolink:Disease	developmental and epileptic encephalopathy, 86		OMIM:618910	mondo.json	EIEE86|DEE86|epileptic encephalopathy, early infantile, 86|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86|developmental and epileptic encephalopathy 86	http://purl.obolibrary.org/obo/MONDO_0030054	https://omim.org/entry/618910	
GO:0032504	biolink:NamedThing	multicellular organism reproduction	The biological process in which new individuals are produced by one or two multicellular organisms. The new individuals inherit some proportion of their genetic material from the parent or parents.		mondo.json		http://purl.obolibrary.org/obo/GO_0032504		
GO:0032502	biolink:NamedThing	developmental process	A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition.		mondo.json	single-organism developmental process|development	http://purl.obolibrary.org/obo/GO_0032502		
GO:0007568	biolink:NamedThing	aging	A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700).		mondo.json	ageing	http://purl.obolibrary.org/obo/GO_0007568		
GO:0032501	biolink:NamedThing	multicellular organismal process	Any biological process, occurring at the level of a multicellular organism, pertinent to its function.		mondo.json	single-multicellular organism process|organismal physiological process	http://purl.obolibrary.org/obo/GO_0032501		
GO:0007566	biolink:NamedThing	embryo implantation	Attachment of the blastocyst to the uterine lining.		mondo.json	blastocyst implantation	http://purl.obolibrary.org/obo/GO_0007566		
GO:0007565	biolink:NamedThing	female pregnancy	The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth.		mondo.json	gestation|carrying of young	http://purl.obolibrary.org/obo/GO_0007565		
MONDO:0030060	biolink:Disease	neurodevelopmental disorder with language impairment and behavioral abnormalities		OMIM:618917	mondo.json	neurodevelopmental disorder with language impairment and behavioral abnormalities|NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES|NEDLIB	http://purl.obolibrary.org/obo/MONDO_0030060	https://omim.org/entry/618917	
MONDO:0030062	biolink:Disease	arrhythmogenic right ventricular dysplasia, familial, 14		OMIM:618920	mondo.json	ARVD14|arrhythmogenic right ventricular dysplasia, familial, 14|ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14|Arrhythmogenic Right Ventricular Cardiomyopathy 14	http://purl.obolibrary.org/obo/MONDO_0030062	https://omim.org/entry/618920	
MONDO:0030061	biolink:Disease	periventricular nodular heterotopia 9		OMIM:618918	mondo.json	PVNH9|periventricular nodular heterotopia 9|PERIVENTRICULAR NODULAR HETEROTOPIA 9	http://purl.obolibrary.org/obo/MONDO_0030061	https://omim.org/entry/618918	
MONDO:0030067	biolink:Disease	Treacher Collins syndrome 4		OMIM:618939	mondo.json	TREACHER COLLINS SYNDROME 4|treacher collins syndrome 4|Treacher-Collins syndrome 4|TCS4	http://purl.obolibrary.org/obo/MONDO_0030067	https://omim.org/entry/618939	
MONDO:0030069	biolink:Disease	hyper-IgE recurrent infection syndrome 5, autosomal recessive		OMIM:618944	mondo.json	HIES5|HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE|hyper-IgE recurrent infection syndrome 5, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0030069	https://omim.org/entry/618944	
MONDO:0030064	biolink:Disease	episodic ataxia, type 9		OMIM:618924	mondo.json	EA9|episodic ataxia, type 9|EPISODIC ATAXIA, TYPE 9	http://purl.obolibrary.org/obo/MONDO_0030064	https://omim.org/entry/618924	
MONDO:0030063	biolink:Disease	neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities		OMIM:618922	mondo.json	neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities|NEDSHBA|NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES|neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	http://purl.obolibrary.org/obo/MONDO_0030063	https://omim.org/entry/618922	
MONDO:0030066	biolink:Disease	granulomatous disease, chronic, autosomal recessive, 5		OMIM:618935	mondo.json	granulomatous disease, chronic, autosomal recessive, 5|GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5|Granulomatous Disease, Chronic, Due to Cybc1 Deficiency|chronic granulomatous disease 5, autosomal recessive|CGD5	http://purl.obolibrary.org/obo/MONDO_0030066	https://omim.org/entry/618935	
MONDO:0030065	biolink:Disease	agenesis of corpus callosum, cardiac, ocular, and genital syndrome		OMIM:618929	mondo.json	ACOGS|agenesis of corpus callosum, cardiac, ocular, and genital syndrome|AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME	http://purl.obolibrary.org/obo/MONDO_0030065	https://omim.org/entry/618929	
HGNC:20330	biolink:NamedThing	POMP			mondo.json		http://identifiers.org/hgnc/20330		
FOODON:03315150	biolink:NamedThing	mammalian milk product		SUBSET_SIREN:F15150	mondo.json		http://purl.obolibrary.org/obo/FOODON_03315150		"subset_siren"
MONDO:0030071	biolink:Disease	retinitis pigmentosa 89		OMIM:618955	mondo.json	RP89|RETINITIS PIGMENTOSA 89|retinitis pigmentosa 89	http://purl.obolibrary.org/obo/MONDO_0030071	https://omim.org/entry/618955	
MONDO:0030070	biolink:Disease	heterotaxy, visceral, 9, autosomal, with male infertility		OMIM:618948	mondo.json	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY|heterotaxy, visceral, 9, autosomal, with male infertility|HTX9	http://purl.obolibrary.org/obo/MONDO_0030070	https://omim.org/entry/618948	
MONDO:0030073	biolink:Disease	Mitchell syndrome		OMIM:618960	mondo.json	Mitchell syndrome|ACOX1 dysregulation|MITCH	http://purl.obolibrary.org/obo/MONDO_0030073	https://omim.org/entry/618960	
MONDO:0030072	biolink:Disease	developmental and epileptic encephalopathy, 88		OMIM:618959	mondo.json	epileptic encephalopathy, early infantile, 88|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 88|DEE88|EIEE88|developmental and epileptic encephalopathy 88	http://purl.obolibrary.org/obo/MONDO_0030072	https://omim.org/entry/618959	
HGNC:19349	biolink:NamedThing	KIF21A			mondo.json		http://identifiers.org/hgnc/19349		
HGNC:2810	biolink:NamedThing	GSDME			mondo.json		http://identifiers.org/hgnc/2810		
MONDO:0030074	biolink:Disease	spondylometaphyseal dysplasia with corneal dystrophy		Orphanet:589435|OMIM:618961	mondo.json	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY|spondylometaphyseal dysplasia with corneal dystrophy|SMDCD	http://purl.obolibrary.org/obo/MONDO_0030074	Orphanet:589435|https://omim.org/entry/618961	
MONDO:0030077	biolink:Disease	vertebral, cardiac, renal, and limb defects syndrome 3		OMIM:618845	mondo.json	Congenital Nad Deficiency Disorder 3|VCRL3|vertebral, cardiac, renal, and limb defects syndrome 3|VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3	http://purl.obolibrary.org/obo/MONDO_0030077	https://omim.org/entry/618845	
CHEBI:57586	biolink:ChemicalSubstance	biotinate	Conjugate base of biotin arising from deprotonation of the carboxy group.		mondo.json	biotin|5-[(3aS,4S,6aR)-2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl]pentanoate|biotin anion	http://purl.obolibrary.org/obo/CHEBI_57586		
HGNC:19344	biolink:NamedThing	DENND5A			mondo.json		http://identifiers.org/hgnc/19344		
HGNC:19353	biolink:NamedThing	SIN3A			mondo.json		http://identifiers.org/hgnc/19353		
HGNC:20342	biolink:NamedThing	ZDHHC15			mondo.json		http://identifiers.org/hgnc/20342		
HGNC:19351	biolink:NamedThing	BICC1			mondo.json		http://identifiers.org/hgnc/19351		
GO:0007548	biolink:NamedThing	sex differentiation	The establishment of the sex of an organism by physical differentiation.		mondo.json		http://purl.obolibrary.org/obo/GO_0007548		
HGNC:20347	biolink:NamedThing	VIPAS39			mondo.json		http://identifiers.org/hgnc/20347		
HGNC:20340	biolink:NamedThing	PRICKLE2			mondo.json		http://identifiers.org/hgnc/20340		
MONDO:0030089	biolink:Disease	diabetes mellitus, permanent neonatal 4		OMIM:618858	mondo.json	PNDM4|DIABETES MELLITUS, PERMANENT NEONATAL 4|diabetes mellitus, permanent neonatal 4	http://purl.obolibrary.org/obo/MONDO_0030089	https://omim.org/entry/618858	
HGNC:19358	biolink:NamedThing	ALG12			mondo.json		http://identifiers.org/hgnc/19358		
MONDO:0030088	biolink:Disease	diabetes mellitus, permanent neonatal 3		OMIM:618857	mondo.json	diabetes mellitus, permanent neonatal 3, with or without neurologic features|PNDM3|diabetes mellitus, permanent neonatal 3|DIABETES MELLITUS, PERMANENT NEONATAL 3|Developmental Delay, Epilepsy, and Neonatal Diabetes 2	http://purl.obolibrary.org/obo/MONDO_0030088	https://omim.org/entry/618857	
MONDO:0030087	biolink:Disease	diabetes mellitus, permanent neonatal 2		OMIM:618856	mondo.json	PNDM2|DIABETES MELLITUS, PERMANENT NEONATAL 2|diabetes, permanent neonatal 2, with or without neurologic features|diabetes mellitus, permanent neonatal 2|Developmental Delay, Epilepsy, and Neonatal Diabetes 1	http://purl.obolibrary.org/obo/MONDO_0030087	https://omim.org/entry/618856	
MONDO:0019690	biolink:Disease	filamin-related bone disorder		Orphanet:93425|UMLS:CN227676	mondo.json	bone filaminopathy	http://purl.obolibrary.org/obo/MONDO_0019690	Orphanet:93425|UMLS:CN227676	disease_grouping|ordo_group_of_disorders
MONDO:0030009	biolink:Disease	alopecia-intellectual disability syndrome 4		OMIM:618840	mondo.json	alopecia-mental retardation syndrome 4|APMR4|alopecia-intellectual disability syndrome 4|ALOPECIA-MENTAL RETARDATION SYNDROME 4	http://purl.obolibrary.org/obo/MONDO_0030009	https://omim.org/entry/618840	
MONDO:0019692	biolink:Disease	multiple epiphyseal dysplasia and pseudoachondroplasia		Orphanet:93429	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019692	Orphanet:93429	ordo_group_of_disorders|disease_grouping
MONDO:0019691	biolink:Disease	short rib dysplasia		ICD9:756.3|Orphanet:93426|SCTID:254050009	mondo.json	SRP|short-rib dysplasia (with or without polydactyly)|ciliopathies with major skeletal involvement	http://purl.obolibrary.org/obo/MONDO_0019691	Orphanet:93426|http://identifiers.org/snomedct/254050009	ordo_group_of_disorders|disease_grouping
MONDO:0017030	biolink:Disease	interstitial lung disease in childhood and adulthood		UMLS:CN202341|Orphanet:264757	mondo.json	ILD in childhood and adulthood	http://purl.obolibrary.org/obo/MONDO_0017030	Orphanet:264757|UMLS:CN202341	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
HGNC:20311	biolink:NamedThing	CHAMP1			mondo.json		http://identifiers.org/hgnc/20311		
FOODON:03411059	biolink:NamedThing	shellfish or crustacean	Shellfish is a food source and fisheries term for exoskeleton-bearing aquatic invertebrates used as food, including various species of molluscs, crustaceans, and echinoderms. Although most kinds of shellfish are harvested from saltwater environments, some kinds are found in freshwater. In addition, a few species of land crabs are eaten, for example *Cardisoma guanhumi* in the Caribbean. [https://en.wikipedia.org/wiki/Shellfish]		mondo.json		http://purl.obolibrary.org/obo/FOODON_03411059		
MONDO:0030006	biolink:Disease	combined oxidative phosphorylation deficiency 40		Orphanet:570491|OMIM:618835	mondo.json	COXPD40|combined oxidative phosphorylation deficiency 40|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40	http://purl.obolibrary.org/obo/MONDO_0030006	Orphanet:570491|https://omim.org/entry/618835	
MONDO:0032669	biolink:Disease	Diamond-Blackfan anemia 19		OMIM:618312	mondo.json	DIAMOND-BLACKFAN ANEMIA 19|DBA19	http://purl.obolibrary.org/obo/MONDO_0032669	https://omim.org/entry/618312	
MONDO:0005049	biolink:Disease	obsolete intracranial hemorrhage	OBSOLETE. Bleeding within the cranium.	SCTID:105629000|EFO:0000551|UMLS:CN236663|ICD9:432.9|MESH:D020300|NCIT:C34463	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005049	UMLS:CN236663|http://identifiers.org/mesh/D020300	
MONDO:0030005	biolink:Disease	epilepsy, early-onset, with or without developmental delay		OMIM:618832	mondo.json	EPEDD|epilepsy, early-onset, with or without developmental delay|EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY	http://purl.obolibrary.org/obo/MONDO_0030005	https://omim.org/entry/618832	
MONDO:0032667	biolink:Disease	epidermodysplasia verruciformis, susceptibility to, 5		OMIM:618309	mondo.json	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5|EV5	http://purl.obolibrary.org/obo/MONDO_0032667	https://omim.org/entry/618309	
MONDO:0030008	biolink:Disease	combined oxidative phosphorylation deficiency 42		OMIM:618839	mondo.json	COXPD42|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42|combined oxidative phosphorylation deficiency 42	http://purl.obolibrary.org/obo/MONDO_0030008	https://omim.org/entry/618839	
MONDO:0032668	biolink:Disease	Diamond-Blackfan anemia 18		OMIM:618310	mondo.json	DIAMOND-BLACKFAN ANEMIA 18|DBA18	http://purl.obolibrary.org/obo/MONDO_0032668	https://omim.org/entry/618310	
MONDO:0030007	biolink:Disease	combined oxidative phosphorylation deficiency 41		OMIM:618838	mondo.json	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41|combined oxidative phosphorylation deficiency 41|COXPD41	http://purl.obolibrary.org/obo/MONDO_0030007	https://omim.org/entry/618838	
MONDO:0005046	biolink:Disease	immune system disorder	A disorder resulting from an abnormality in the immune system.	DOID:2914|EFO:0000540|NCIT:C3507|ICD9:279.4|ICD9:279.8|MESH:D007154|ICD9:279.19|ICD9:279.1|ICD9:279.49|ICD9:279|SCTID:414029004|ICD9:279.9|ICD9:279.10	mondo.json	disorder of immune system|immune disorder|disease or disorder of immune system|immune dysfunction|disease of immune system|immune system disease or disorder|immune system disorder|immune disease	http://purl.obolibrary.org/obo/MONDO_0005046	http://identifiers.org/snomedct/414029004|http://identifiers.org/mesh/D007154|DOID:2914|NCIT:C3507	
MONDO:0020687	biolink:Disease	supratentorial ependymal tumor	An ependymal tumor arising from the supratentorial region of the brain.	NCIT:C131611	mondo.json	supratentorial ependymal tumor	http://purl.obolibrary.org/obo/MONDO_0020687	NCIT:C131611	
MONDO:0020686	biolink:Disease	acute tonsillitis	An acute inflammation of the tonsils caused by viruses or bacteria. Signs and symptoms include fever, enlargement of the tonsils, difficulty swallowing, and enlargement of the regional lymph nodes.	ICD9:463|UMLS:C0001361|NCIT:C97142|SCTID:17741008	mondo.json	acute tonsillitis|acute adenoiditis|infective tonsillitis	http://purl.obolibrary.org/obo/MONDO_0020686	http://identifiers.org/snomedct/17741008|UMLS:C0001361|NCIT:C97142	
MONDO:0005045	biolink:Disease	hypertrophic cardiomyopathy	A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.	KEGG:05410|Orphanet:217569|ICD10CM:I42.1|NCIT:C34449|UMLS:C0007194|EFO:0000538|DOID:11984|ICD9:425.4|SCTID:233873004|ICD9:425.11|ICD9:425.1|MESH:D002312|MedDRA:10020871	mondo.json	obstructive hypertrophic cardiomyopathy|HCM - hypertrophic cardiomyopathy|familial hypertrophic cardiomyopathy|hypertrophic subaortic stenosis|hypertrophic cardiomyopathy|hypertrophic obstructive cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0005045	UMLS:C0007194|Orphanet:217569|http://purl.bioontology.org/ontology/ICD10CM/I42.1|DOID:11984|http://identifiers.org/snomedct/233873004|http://identifiers.org/mesh/D002312|NCIT:C34449	clingen|ordo_group_of_disorders|disease_grouping
MONDO:0044656	biolink:Disease	epidermolytic nevus		UMLS:C1302848|SCTID:400142003|Orphanet:497737	mondo.json	epidermolytic epidermal nevus|epidermolytic verrucous epidermal nevus|Epidermal nevus with epidermolytic hyperkeratosis	http://purl.obolibrary.org/obo/MONDO_0044656	Orphanet:497737|UMLS:C1302848|http://identifiers.org/snomedct/400142003	ordo_disease
MONDO:0005048	biolink:Disease	pancreatic insulin-producing neuroendocrine tumor	An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. It may or may not be associated with inappropriate secretion of insulin and an associated clinical syndrome.	NCIT:C3140|Orphanet:97279|ICDO:8151/1|ICDO:8151/0	mondo.json	pancreatic insulin-producing neuroendocrine tumor|Beta cell tumor|insulin-producing tumor of the islet cells|insulin-producing tumor of islet cells|pancreatic insulin-producing tumor|pancreatic insulin producing tumor|pancreatic insulin producing NET|pancreatic insulin producing neoplasm|pancreatic Beta cell tumor|insulin-producing islet cell tumor|Beta cell tumor of pancreas|beta cell neoplasm|beta cell tumor of the pancreas|Beta cell tumor of the pancreas	http://purl.obolibrary.org/obo/MONDO_0005048	Orphanet:97279|NCIT:C3140	
MONDO:0020685	biolink:Disease	infratentorial ependymal tumor	An ependymal tumor arising from the infratentorial region of the brain.	NCIT:C131612	mondo.json	infratentorial ependymal tumor	http://purl.obolibrary.org/obo/MONDO_0020685	NCIT:C131612	
MONDO:0005047	biolink:Disease	infertility disorder	Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.	NCIT:C3836|MESH:D007246|DOID:5223|EFO:0000545	mondo.json	infertility|fertility disorders|sterility|infertile|Sterile|sterile	http://purl.obolibrary.org/obo/MONDO_0005047	http://identifiers.org/mesh/D007246|NCIT:C3836|DOID:5223	clingen
MONDO:0020684	biolink:Disease	Ehlers-Danlos syndrome, periodontal type 1		OMIM:130080	mondo.json	EDS 8|Ehlers-Danlos syndrome, periodontal type, 1|Ehlers-Danlos syndrome, type 8|Ehlers-Danlos syndrome, periodontitis type|EDSPD1|Ehlers-Danlos syndrome, periodontosis type	http://purl.obolibrary.org/obo/MONDO_0020684	https://omim.org/entry/130080	
MONDO:0044655	biolink:Disease	c12orf65-related combined oxidative phosphorylation defect		Orphanet:497623	mondo.json	C12ORF65-related COXPD	http://purl.obolibrary.org/obo/MONDO_0044655	Orphanet:497623	ordo_group_of_disorders|disease_grouping
HGNC:10989	biolink:NamedThing	SLC25A3			mondo.json		http://identifiers.org/hgnc/10989		
MONDO:0005042	biolink:Disease	head disorder	A disease involving the head.	EFO:0000524|UMLS:C1290856|SCTID:118934005	mondo.json	head disease or disorder|disorder of head|disease of head|disease or disorder of head|head disease	http://purl.obolibrary.org/obo/MONDO_0005042	UMLS:C1290856|http://identifiers.org/snomedct/118934005	obsoletion_candidate
MONDO:0020683	biolink:Disease	acute disease	Disease having a short and relatively severe course.	UMLS:C0001314|ICD9:799.89|MESH:D000208|SCTID:2704003	mondo.json	disease, acute|acute diseases|acute disease	http://purl.obolibrary.org/obo/MONDO_0020683	UMLS:C0001314|http://identifiers.org/mesh/D000208|http://identifiers.org/snomedct/2704003	
MONDO:0005041	biolink:Disease	glaucoma	Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor.	ICD9:365.89|SCTID:23986001|HP:0000501|ICD10CM:H40-H42|NCIT:C26782|ICD9:365.9|MESH:D005901|ICD9:365|DOID:1686|EFO:0000516|UMLS:C0017601	mondo.json	glaucoma|glaucoma (disease)	http://purl.obolibrary.org/obo/MONDO_0005041	DOID:1686|UMLS:C0017601|NCIT:C26782|http://identifiers.org/mesh/D005901|http://purl.bioontology.org/ontology/ICD10CM/H40-H42|http://identifiers.org/snomedct/23986001	
MONDO:0020682	biolink:Disease	Ehlers-Danlos syndrome, spondylodysplastic type, 1		OMIM:130070	mondo.json	Ehlers-Danlos syndrome with Short stature and Limb anomalies|galactosyltransferase 1 deficiency|XGPT deficiency|Ehlers-Danlos syndrome, progeroid type, 1|PDS, defective biosynthesis of|Ehlers-Danlos syndrome, spondylodysplastic type, 1|Ehlers-Danlos syndrome, progeroid type 1|xylosylprotein 4-Beta-galactosyltransferase deficiency|Ehlers-Danlos syndrome, progeroid type, 1, formerly|EDSSPD1|dermatan sulfate proteoglycan|proteodermatan sulfate, defective biosynthesis of	http://purl.obolibrary.org/obo/MONDO_0020682	https://omim.org/entry/130070	
MONDO:0044652	biolink:Disease	obsolete optic atrophy-peripheral neuropathy-developmental delay syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0044652		
MONDO:0020681	biolink:Disease	Ehlers-Danlos syndrome, musculocontractural type 1		OMIM:601776|NCIT:C168975	mondo.json	EDSMC|Arthrogryposis, Distal, with peculiar facies and hydronephrosis|Ehlers-Danlos syndrome, type Vib|EDSMC1|adducted thumb-clubfoot syndrome|Dundar syndrome|Ehlers-Danlos syndrome, musculocontractural type, 1|adducted thumb, clubfoot, and Progressive Joint and skin laxity syndrome|Ehlers-Danlos syndrome, type Vib, formerly	http://purl.obolibrary.org/obo/MONDO_0020681	NCIT:C168975|https://omim.org/entry/601776	
MONDO:0005044	biolink:Disease	hypertensive disorder	Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more.	UMLS:C0020538|NCIT:C3117|ICD9:401-405.99|SCTID:38341003|ICD9:997.91|ICD10CM:I10-I16|DOID:10763|EFO:0000537|MESH:D006973|ICD10CM:I15|HP:0000822	mondo.json	increased blood pressure|hyperpiesia|vascular hypertensive disorder|pressure, high blood|high blood pressure|blood pressure, increased|hypertensive disease|blood pressure, high|hypertension|HTN	http://purl.obolibrary.org/obo/MONDO_0005044	http://purl.bioontology.org/ontology/ICD10CM/I15|http://identifiers.org/mesh/D006973|NCIT:C3117|http://identifiers.org/snomedct/38341003|DOID:10763|UMLS:C0020538|http://purl.bioontology.org/ontology/ICD10CM/I10-I16	
MONDO:0005043	biolink:Disease	hyperplasia	An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement.	MESH:D006965|EFO:0000536|NCIT:C3113	mondo.json	hyperplastic|hyperplasia	http://purl.obolibrary.org/obo/MONDO_0005043	http://identifiers.org/mesh/D006965|NCIT:C3113	
MONDO:0029014	biolink:Disease	obsolete rare systemic or rheumatological disease of childhood		Orphanet:280342	mondo.json		http://purl.obolibrary.org/obo/MONDO_0029014	Orphanet:280342	
MONDO:0020680	biolink:Disease	acute bronchiolitis	Acute inflammation of the bronchioles usually caused by the respiratory syncytial virus.	SCTID:5505005|UMLS:C0001311|ICD9:466.19|ICD9:466.1|NCIT:C39659	mondo.json	capillary pneumonia|acute capillary bronchiolitis|acute Bronchiolitis|Capillary pneumonia|acute bronchiolitis	http://purl.obolibrary.org/obo/MONDO_0020680	http://identifiers.org/snomedct/5505005|UMLS:C0001311|NCIT:C39659	
MONDO:0044651	biolink:Disease	early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome		Orphanet:496756|OMIM:617207	mondo.json		http://purl.obolibrary.org/obo/MONDO_0044651	Orphanet:496756	ordo_disease
HGNC:10993	biolink:NamedThing	SLC26A1			mondo.json		http://identifiers.org/hgnc/10993		
HGNC:10994	biolink:NamedThing	SLC26A2			mondo.json		http://identifiers.org/hgnc/10994		
MONDO:0005040	biolink:Disease	germ cell tumor	A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.	DOID:2994|NCIT:C3708|GARD:0013022|UMLS:C0205851|EFO:0000514|DOID:688	mondo.json	germ cell neoplasm|neoplasm of the germ cell|germ cells tumors|neoplasm of germ cell|germ cell tumor|tumor of the germ cell|tumor of germ cell|germ cell tumour|germ cell cancer	http://purl.obolibrary.org/obo/MONDO_0005040	UMLS:C0205851|DOID:2994|NCIT:C3708	gard_rare
MONDO:0017039	biolink:Disease	drug or radiation exposure-related interstitial lung disease		UMLS:CN202350|Orphanet:264978	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017039	Orphanet:264978|UMLS:CN202350	ordo_clinical_situation
MONDO:0044647	biolink:Disease	kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome		OMIM:617114|Orphanet:496686	mondo.json		http://purl.obolibrary.org/obo/MONDO_0044647	Orphanet:496686	ordo_disease
MONDO:0044646	biolink:Disease	early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome		OMIM:617193|Orphanet:496641|UMLS:C4310671	mondo.json	encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBAT|encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum|PEBAT	http://purl.obolibrary.org/obo/MONDO_0044646	UMLS:C4310671|Orphanet:496641|https://omim.org/entry/617193	ordo_malformation_syndrome
MONDO:0020679	biolink:Disease	conductive hearing loss disorder	Hearing loss caused by impaired transmission of signals from the external auditory canal or middle ear to the cochlea.	SCTID:44057004|NCIT:C27645	mondo.json	conductive hearing loss|conductive deafness	http://purl.obolibrary.org/obo/MONDO_0020679	NCIT:C27645|http://identifiers.org/snomedct/44057004	
HGNC:10998	biolink:NamedThing	SLC27A4			mondo.json		http://identifiers.org/hgnc/10998		
MONDO:0044649	biolink:Disease	omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome		Orphanet:496693|OMIM:609545	mondo.json	Gershoni-Baruch syndrome	http://purl.obolibrary.org/obo/MONDO_0044649	Orphanet:496693	ordo_malformation_syndrome
MONDO:0020678	biolink:Disease	sensorineural hearing loss disorder	Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII).	SCTID:60700002|NCIT:C26739|HP:0000407|DOID:10003	mondo.json	SNHL|neurosensory deafness|sensorineural hearing loss|sensorineural deafness|sensorineural hearing loss disorder	http://purl.obolibrary.org/obo/MONDO_0020678	http://identifiers.org/snomedct/60700002|DOID:10003|NCIT:C26739	
MONDO:0020677	biolink:Disease	sudden hearing loss disorder		SCTID:79471008	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020677	http://identifiers.org/snomedct/79471008	
MONDO:0044648	biolink:Disease	kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome		Orphanet:496689	mondo.json	kyphoscoliosis-lateral tongue atrophy-HSP syndrome	http://purl.obolibrary.org/obo/MONDO_0044648	Orphanet:496689	ordo_disease
MONDO:0030013	biolink:Disease	immunodeficiency 66		OMIM:618847	mondo.json	immunodeficiency 66|IMMUNODEFICIENCY 66|IMD66	http://purl.obolibrary.org/obo/MONDO_0030013	https://omim.org/entry/618847	
MONDO:0019698	biolink:Disease	bent bone dysplasia		ICD9:756.59|Orphanet:93439|SCTID:254095002|UMLS:C0432238	mondo.json	campomelic dysplasia and related disorders	http://purl.obolibrary.org/obo/MONDO_0019698	UMLS:C0432238|Orphanet:93439|http://identifiers.org/snomedct/254095002	ordo_group_of_disorders|disease_grouping
HP:0002094	biolink:PhenotypicFeature	Dyspnea	Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.	MSH:D004417|SNOMEDCT_US:267036007|UMLS:C0013404|SNOMEDCT_US:230145002	mondo.json	Difficulty breathing|Shortness of breath|Dyspnoea|Trouble breathing|Breathing difficulty|Panting|Abnormal breathing|Difficult to breathe	http://purl.obolibrary.org/obo/HP_0002094		
MONDO:0017035	biolink:Disease	obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic disease		Orphanet:264949|UMLS:CN202347	mondo.json	secondary ILD in childhood and adulthood associated with a systemic disease	http://purl.obolibrary.org/obo/MONDO_0017035	Orphanet:264949|UMLS:CN202347	ordo_group_of_disorders
HGNC:20305	biolink:NamedThing	SLC34A3			mondo.json		http://identifiers.org/hgnc/20305		
MONDO:0030012	biolink:Disease	Diets-Jongmans syndrome		OMIM:618846	mondo.json	DIJOS|Intellectual Developmental Disorder With Distinctive Facial Dysmorphism|DIETS-JONGMANS SYNDROME|diets-jongmans syndrome	http://purl.obolibrary.org/obo/MONDO_0030012	https://omim.org/entry/618846	
MONDO:0032677	biolink:Disease	lissencephaly 9 with complex brainstem malformation		Orphanet:572013|OMIM:618325	mondo.json	LIS9|LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION	http://purl.obolibrary.org/obo/MONDO_0032677	https://omim.org/entry/618325|Orphanet:572013	
MONDO:0019697	biolink:Disease	mesomelic and rhizo-mesomelic dysplasia		Orphanet:93438|UMLS:CN229208	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019697	UMLS:CN229208|Orphanet:93438	ordo_group_of_disorders|disease_grouping
MONDO:0017036	biolink:Disease	Langerhans cell histiocytosis in childhood and adulthood		Orphanet:264955	mondo.json	Langerhans cell granulomatosis in childhood and adulthood|histiocytosis X in childhood and adulthood	http://purl.obolibrary.org/obo/MONDO_0017036	Orphanet:264955	ordo_group_of_disorders|disease_grouping
MONDO:0017037	biolink:Disease	obsolete secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease		Orphanet:264968|UMLS:CN202348	mondo.json	secondary ILD in childhood and adulthood associated with a metabolic disease	http://purl.obolibrary.org/obo/MONDO_0017037	Orphanet:264968|UMLS:CN202348	ordo_group_of_disorders
MONDO:0030015	biolink:Disease	bone marrow failure syndrome 6		OMIM:618849	mondo.json	BMFS6|BONE MARROW FAILURE SYNDROME 6|bone marrow failure syndrome 6	http://purl.obolibrary.org/obo/MONDO_0030015	https://omim.org/entry/618849	
HP:0002093	biolink:PhenotypicFeature	Respiratory insufficiency		UMLS:C4020855|SNOMEDCT_US:409623005|UMLS:C0035229|MSH:D012131	mondo.json	Respiratory function loss|Respiratory impairment	http://purl.obolibrary.org/obo/HP_0002093		
MONDO:0030014	biolink:Disease	muscular dystrophy, limb-girdle, autosomal recessive 26		OMIM:618848	mondo.json	muscular dystrophy, limb-girdle, autosomal recessive 26|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26|LGMDR26	http://purl.obolibrary.org/obo/MONDO_0030014	https://omim.org/entry/618848	
MONDO:0017038	biolink:Disease	obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis		UMLS:CN202349|Orphanet:264973	mondo.json	secondary ILD in childhood and adulthood associated with a systemic vasculitis	http://purl.obolibrary.org/obo/MONDO_0017038	Orphanet:264973|UMLS:CN202349	ordo_group_of_disorders
MONDO:0019699	biolink:Disease	slender bone dysplasia		Orphanet:93440	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019699	Orphanet:93440	ordo_group_of_disorders|disease_grouping
MONDO:0032675	biolink:Disease	myasthenic syndrome, congenital, 25, presynaptic		OMIM:618323	mondo.json	myasthenic syndrome, congenital, 25|CMS25|MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC	http://purl.obolibrary.org/obo/MONDO_0032675	https://omim.org/entry/618323	
MONDO:0017031	biolink:Disease	primary interstitial lung disease in childhood and adulthood		UMLS:CN202342|Orphanet:264762	mondo.json	primary ILD in childhood and adulthood	http://purl.obolibrary.org/obo/MONDO_0017031	Orphanet:264762|UMLS:CN202342	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
HP:0002098	biolink:PhenotypicFeature	Respiratory distress	Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.	UMLS:C0476273|MSH:D004417|SNOMEDCT_US:267036007|SNOMEDCT_US:271825005|UMLS:C0013404|SNOMEDCT_US:230145002	mondo.json	Labored breathing|Respiratory difficulties|Breathing difficulties	http://purl.obolibrary.org/obo/HP_0002098		
MONDO:0032672	biolink:Disease	intellectual developmental disorder with cardiac defects and dysmorphic facies		Orphanet:562569|OMIM:618316	mondo.json	INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES|IDDCDF	http://purl.obolibrary.org/obo/MONDO_0032672	Orphanet:562569|https://omim.org/entry/618316	
MONDO:0019694	biolink:Disease	spondylodysplastic dysplasia		Orphanet:93434	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019694	Orphanet:93434	disease_grouping|ordo_group_of_disorders
HP:0002099	biolink:PhenotypicFeature	Asthma	Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.	SNOMEDCT_US:991000119106|UMLS:C3714497|MSH:D001249|UMLS:C0004096|SNOMEDCT_US:195967001	mondo.json	Bronchial asthma|Reactive airway disease|Asthma	http://purl.obolibrary.org/obo/HP_0002099		
MONDO:0017032	biolink:Disease	obsolete primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder		Orphanet:264930|UMLS:CN202344	mondo.json	primary ILD in childhood and adulthood due to alveolar structure disorder	http://purl.obolibrary.org/obo/MONDO_0017032	Orphanet:264930|UMLS:CN202344	ordo_group_of_disorders
MONDO:0019693	biolink:Disease	multiple metaphyseal dysplasia		Orphanet:93430	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019693	Orphanet:93430	disease_grouping|ordo_group_of_disorders
MONDO:0032673	biolink:Disease	basal ganglia calcification, idiopathic, 7, autosomal recessive		OMIM:618317	mondo.json	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE|IBGC7	http://purl.obolibrary.org/obo/MONDO_0032673	https://omim.org/entry/618317	
HGNC:10990	biolink:NamedThing	SLC25A4			mondo.json		http://identifiers.org/hgnc/10990		
MONDO:0032670	biolink:Disease	Diamond-Blackfan anemia 20		OMIM:618313	mondo.json	DBA20|DIAMOND-BLACKFAN ANEMIA 20	http://purl.obolibrary.org/obo/MONDO_0032670	https://omim.org/entry/618313	
MONDO:0019696	biolink:Disease	acromesomelic dysplasia	A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type	OMIMPS:602875|Orphanet:93437|MESH:C535658|DOID:0080049|GARD:0000006	mondo.json	acromesomelic dwarfism	http://purl.obolibrary.org/obo/MONDO_0019696	http://identifiers.org/mesh/C535658|https://omim.org/phenotypicSeries/PS602875|Orphanet:93437|DOID:0080049	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0017033	biolink:Disease	obsolete primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder		Orphanet:264935|UMLS:CN202345	mondo.json	primary ILD in childhood and adulthood due to alveolar vascular disorder	http://purl.obolibrary.org/obo/MONDO_0017033	Orphanet:264935|UMLS:CN202345	ordo_group_of_disorders
HGNC:19321	biolink:NamedThing	NKX6-2			mondo.json		http://identifiers.org/hgnc/19321		
MONDO:0019695	biolink:Disease	acromelic dysplasia		Orphanet:93436	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019695	Orphanet:93436	ordo_group_of_disorders|disease_grouping
MONDO:0017034	biolink:Disease	secondary interstitial lung disease in childhood and adulthood		Orphanet:264944|UMLS:CN202346	mondo.json	secondary ILD in childhood and adulthood	http://purl.obolibrary.org/obo/MONDO_0017034	Orphanet:264944|UMLS:CN202346	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0030010	biolink:Disease	hypogonadotropic hypogonadism 25 with anosmia		OMIM:618841	mondo.json	HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA|hypogonadotropic hypogonadism 25 with anosmia|HH25	http://purl.obolibrary.org/obo/MONDO_0030010	https://omim.org/entry/618841	
HGNC:19331	biolink:NamedThing	MMAB			mondo.json		http://identifiers.org/hgnc/19331		
MONDO:0019681	biolink:Disease	juvenile sialidosis type 2		SCTID:111383007|UMLS:C0268229|UMLS:CN206605|Orphanet:93399	mondo.json	dysmorphic sialidosis, juvenile form	http://purl.obolibrary.org/obo/MONDO_0019681	UMLS:CN206605|Orphanet:93399|UMLS:C0268229|http://identifiers.org/snomedct/111383007	ordo_clinical_subtype
MONDO:0019680	biolink:Disease	genochondromatosis type 2	Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.	SCTID:725904009|UMLS:CN206604|Orphanet:93398|UMLS:C4511481	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019680	UMLS:CN206604|UMLS:C4511481|Orphanet:93398|http://identifiers.org/snomedct/725904009	ordo_disease
HGNC:22986	biolink:NamedThing	COL27A1			mondo.json		http://identifiers.org/hgnc/22986		
MONDO:0030017	biolink:Disease	combined oxidative phosphorylation deficiency 43		OMIM:618851	mondo.json	combined oxidative phosphorylation deficiency 43|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43|COXPD43	http://purl.obolibrary.org/obo/MONDO_0030017	https://omim.org/entry/618851	
HGNC:20323	biolink:NamedThing	SMOC2			mondo.json		http://identifiers.org/hgnc/20323		
HGNC:20324	biolink:NamedThing	TGDS			mondo.json		http://identifiers.org/hgnc/20324		
MONDO:0030016	biolink:Disease	obsolete MONDO:0030016			mondo.json		http://purl.obolibrary.org/obo/MONDO_0030016		
MONDO:0032678	biolink:Disease	developmental and epileptic encephalopathy, 71		OMIM:618328	mondo.json	epileptic encephalopathy, early infantile, 71|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71|developmental and epileptic encephalopathy 71|Glutaminase Deficiency With Neonatal Epileptic Encephalopathy|EIEE71|DEE71	http://purl.obolibrary.org/obo/MONDO_0032678	https://omim.org/entry/618328	
MONDO:0030019	biolink:Disease	anauxetic dysplasia 3		OMIM:618853	mondo.json	ANAUXETIC DYSPLASIA 3|anauxetic dysplasia 3|ANXD3	http://purl.obolibrary.org/obo/MONDO_0030019	https://omim.org/entry/618853	
MONDO:0032679	biolink:Disease	combined oxidative phosphorylation deficiency 37		DOID:0111499|OMIM:618329	mondo.json	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37|COXPD37	http://purl.obolibrary.org/obo/MONDO_0032679	https://omim.org/entry/618329|DOID:0111499	
MONDO:0030018	biolink:Disease	autoinflammation with episodic fever and lymphadenopathy		OMIM:618852	mondo.json	Cleavage-Resistant Ripk1-Induced Autoinflammatory Syndrome|AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY|autoinflammation with episodic fever and lymphadenopathy|AIEFL|Cria Syndrome	http://purl.obolibrary.org/obo/MONDO_0030018	https://omim.org/entry/618852	
MONDO:0005057	biolink:Disease	large cell neuroendocrine carcinoma	A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas.	UMLS:C1265996|ICDO:8013/3|ONCOTREE:LUNE|NCIT:C6875|DOID:0050872|EFO:0000563	mondo.json	large cell NEC|LCNEC|large-cell neuroendocrine carcinoma|large cell neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0005057	DOID:0050872|UMLS:C1265996|NCIT:C6875	
MONDO:0020676	biolink:Disease	obsolete disorder of central nervous system or retinal vasculature			mondo.json	central nervous system or retinal vascular disease|retina/CNS vascular disease	http://purl.obolibrary.org/obo/MONDO_0020676		
MONDO:0029001	biolink:Disease	obsolete chemically-induced disorder	OBSOLETE. Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as pharmaceutical preparations; noxae; and pesticides.	MESH:D064419	mondo.json	chemically-induced disorder|disorders, chemically-induced|disorder, chemically-induced|chemically induced disorders	http://purl.obolibrary.org/obo/MONDO_0029001	http://identifiers.org/mesh/D064419	
MONDO:0005056	biolink:Disease	keratinizing squamous cell carcinoma	Squamous cell carcinomas with morphologically prominent production of keratin.	UMLS:C0334247|DOID:5521|EFO:0000559|NCIT:C4105|ICDO:8071/3	mondo.json	keratinizing epidermoid carcinoma|squamous cell carcinoma, keratinizing|keratinizing squamous cell carcinoma|squamous cell carcinoma, keratinizing (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0005056	NCIT:C4105|UMLS:C0334247|DOID:5521	
MONDO:0020675	biolink:Disease	ischemic bowel disorder	Disease of the large or small intestine that is caused by inadequate blood supply.	NCIT:C35212	mondo.json	ischemic bowel disease	http://purl.obolibrary.org/obo/MONDO_0020675	NCIT:C35212	
MONDO:0005059	biolink:Disease	leukemia	A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years.	UMLS:C0023418|ICD9:207.80|ICD9:208.80|ICD9:208|HP:0001909|NCIT:C3161|ICD9:207|ICD9:208.90|ICDO:9800/3|MESH:D007938|SCTID:93143009|ICD9:208.9|ICD9:208.8|ICD9:207.8|DOID:1240|EFO:0000565	mondo.json	leukemia, malignant|leukemia, disease|blood (leukemia)|leukemia (disease)|leukemias|leukemia|leukemias, general	http://purl.obolibrary.org/obo/MONDO_0005059	UMLS:C0023418|http://identifiers.org/mesh/D007938|DOID:1240|NCIT:C3161|http://identifiers.org/snomedct/93143009	
MONDO:0029000	biolink:Disease	poisoning	A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent.	UMLS:C0302332|MESH:D011041|EFO:0008546|SCTID:75478009	mondo.json	intoxication|Poisonings|poisoning syndrome	http://purl.obolibrary.org/obo/MONDO_0029000	http://identifiers.org/snomedct/75478009|http://identifiers.org/mesh/D011041|UMLS:C0302332	harrisons_view
MONDO:0020674	biolink:Disease	vascular insufficiency disorder		SCTID:86341008	mondo.json	vascular insufficiency	http://purl.obolibrary.org/obo/MONDO_0020674	http://identifiers.org/snomedct/86341008	
MONDO:0020673	biolink:Disease	arterial occlusion	Complete closure of the normally patent lumen of the blood vessels which carry blood away from the heart.	NCIT:C35318	mondo.json	arterial obstruction|arterial occlusion	http://purl.obolibrary.org/obo/MONDO_0020673	NCIT:C35318	
MONDO:0005058	biolink:Disease	leiomyosarcoma	An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas.	DOID:1967|MedDRA:10024189|Orphanet:64720|ONCOTREE:LMS|OMIM:613488|ICDO:8890/3|GARD:0006880|MESH:D007890|SCTID:443719001|NCIT:C3158|EFO:0000564|UMLS:C0023269|ICD9:171.9	mondo.json	leiomyosarcoma - not uterine|leiomyosarcoma|leiomyosarcoma (excluding uterine leiomyosarcoma)|leiomyosarcoma, malignant|Leiomyosarcomas	http://purl.obolibrary.org/obo/MONDO_0005058	http://identifiers.org/snomedct/443719001|UMLS:C0023269|http://identifiers.org/mesh/D007890|DOID:1967|Orphanet:64720|NCIT:C3158	gard_rare|ordo_disease
MONDO:0005053	biolink:Disease	ischemic disease	Lack of blood supply to an area of the body, resulting in impairment of tissue oxygenation.	MESH:D054058|MESH:D007511|DOID:326|SCTID:52674009|EFO:0000556|NCIT:C34738	mondo.json	ischemia	http://purl.obolibrary.org/obo/MONDO_0005053	http://identifiers.org/snomedct/52674009|DOID:326|NCIT:C34738|http://identifiers.org/mesh/D007511	
MONDO:0020672	biolink:Disease	vascular occlusion disorder	A disorder characterized by occlusion of blood vessels. It differs from thrombosis in that it can be used to describe any form of blockage, not just one formed by a clot.		mondo.json	vascular occlusion	http://purl.obolibrary.org/obo/MONDO_0020672		
MONDO:0020671	biolink:Disease	obsolete susceptibility to ischemic stroke		OMIM:601367	mondo.json	stroke, ischemic|cerebral infarction, susceptibility to|ischemic stroke, susceptibility to|stroke, susceptibility to|cerebral infarction|stroke, ischemic, susceptibility to|cerebrovascular accident	http://purl.obolibrary.org/obo/MONDO_0020671	https://omim.org/entry/601367	predisposition
MONDO:0005052	biolink:Disease	irritable bowel syndrome	Irritable bowel syndrome (IBS) is a chronic functional condition of the lower gastrointestinal (GI) tract characterised by abdominal pain or discomfort and disordered bowel habit (diarrhoea, constipation, or fluctuation between the two).	ICD9:564.1|UMLS:C0022104|MESH:D043183|DOID:9778|NCIT:C82343|ICD10CM:K58|EFO:0000555|SCTID:10743008	mondo.json	irritable colon|psychogenic IBS|IBD|irritable bowel syndrome|IBS|mucus colitis|spastic colon	http://purl.obolibrary.org/obo/MONDO_0005052	UMLS:C0022104|http://purl.bioontology.org/ontology/ICD10CM/K58|DOID:9778|NCIT:C82343|http://identifiers.org/mesh/D043183|http://identifiers.org/snomedct/10743008	
MONDO:0044660	biolink:Disease	menstrual cycle-dependent periodic fever		OMIM:614674|UMLS:C3553418|Orphanet:498251	mondo.json	periodic fever, menstrual cycle dependent|periodic fever, menstrual cycle-dependent|menstrual cycle-dependent febrile episode|luteal-phase-dependent periodic fever|luteal-phase-dependent febrile episode	http://purl.obolibrary.org/obo/MONDO_0044660	UMLS:C3553418|https://omim.org/entry/614674|Orphanet:498251	ordo_disease
MONDO:0005055	biolink:Disease	Kaposi's sarcoma	A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS).	ICD9:176|NCIT:C9087|MedDRA:10023284|Orphanet:33276|DOID:8632|MESH:D012514|EFO:0000558|ICD9:176.8|ICD9:176.9|HP:0100726|GARD:0006814|ICDO:9140/3|SCTID:109385007	mondo.json	Kaposi's sarcoma of the gallbladder|HHV8|Kaposi's sarcoma of the prostate|prostate Kaposi's sarcoma|Kaposi's sarcoma of soft tissues|Kaposi's sarcoma of lymph nodes|Kaposi's sarcoma of palate|Kaposi's sarcoma-associated herpesvirus (KSHV)|Kaposi's sarcoma of the CNS|cutaneous Kaposi's sarcoma|intestinal Kaposi's sarcoma|palate Kaposi's sarcoma|Kaposi sarcoma herpesvirus|corneal Kaposi's sarcoma|anal Kaposi's sarcoma|central nervous system Kaposi's sarcoma|Kaposi's sarcoma of heart|Kaposi's sarcoma of cornea|conjunctival Kaposi's sarcoma|Kaposi's sarcoma of skin|gallbladder Kaposi's sarcoma|lymph node Kaposi's sarcoma|Kaposi's sarcoma, lung|Kaposi's sarcoma of soft tissue|lymphadenopathic Kaposi's sarcoma|soft tissue Kaposi's sarcoma|Kaposi's sarcoma of lung|cardiac Kaposi's sarcoma|Kaposi's sarcoma of anus|Kaposi's sarcoma of gastrointestinal sites|Kaposi's sarcoma of penis|multiple hemorrhagic sarcoma|Kaposi sarcoma|Kaposi's sarcoma, skin|Kaposi's sarcoma (disease)|Kaposi's sarcoma of central nervous system|KSHV|African lymphadenopathic Kaposi's sarcoma|non AIDS related Kaposi sarcoma|gastric Kaposi's sarcoma|KS|esophageal Kaposi's sarcoma|Kaposi's sarcoma|human herpesvirus 8|Kaposi's sarcoma of esophagus|Mediterranean Kaposi sarcoma|pulmonary Kaposi's sarcoma|penis Kaposi's sarcoma|Kaposi's sarcoma of conjunctiva	http://purl.obolibrary.org/obo/MONDO_0005055	DOID:8632|Orphanet:33276|http://identifiers.org/snomedct/109385007|NCIT:C9087|http://identifiers.org/mesh/D012514	ordo_disease
MONDO:0044663	biolink:Disease	aquagenic palmoplantar keratoderma	Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the bhand in the bucket sign,b that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic syringeal acrokeratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by mutations in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib. In most cases it does not need any treatment and resolves spontaneously. When necessary, it can be treated with topical aluminum chloride or salicylic acid ointment or with tap water iontophoresis.	Orphanet:498359|GARD:0012991	mondo.json	aquagenic syringeal acrokeratoderma|aquagenic palmoplantar keratoderma|aquagenic wrinkling of the palms|transient reactive papulotranslucent acrokeratoderma|Transient reactive papulotranslucent acrokeratoderma|aquagenic keratoderma|aquagenic wrinkling of the hands	http://purl.obolibrary.org/obo/MONDO_0044663	Orphanet:498359	gard_rare|ordo_disease
MONDO:0020670	biolink:Disease	obsolete antithrombin deficiency type 2		MESH:C537779|GARD:0010182	mondo.json	antithrombin deficiency type 2|Inherited antithrombin deficiency type II|antithrombmin III deficiency Type II	http://purl.obolibrary.org/obo/MONDO_0020670	http://identifiers.org/mesh/C537779	
MONDO:0005054	biolink:Disease	obsolete juvenile dermatomyositis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005054		
MONDO:0032680	biolink:Disease	global developmental delay with or without impaired intellectual development		OMIM:618330	mondo.json	GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT|GDDI	http://purl.obolibrary.org/obo/MONDO_0032680	https://omim.org/entry/618330	
MONDO:0005051	biolink:Disease	invasive lobular breast carcinoma	An infiltrating lobular adenocarcinoma of the breast. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures.	UMLS:C0279565|ONCOTREE:ILC|DOID:3457|NCIT:C7950|EFO:0000553|UMLS:C0206692	mondo.json	breast invasive lobular carcinoma|invasive lobular breast carcinoma|invasive lobular adenocarcinoma|invasive lobular carcinoma of the breast|lobular carcinoma NOS (morphologic abnormality)|lobular carcinoma of the breast|lobular carcinoma (morphologic abnormality)|invasive lobular carcinoma|lobular carcinoma|infiltrating lobular carcinoma of breast|classic invasive lobular carcinoma|infiltrating lobular adenocarcinoma|infiltrating lobular breast carcinoma|infiltrating lobular carcinoma of the breast|invasive lobular carcinoma, classic type|invasive lobular carcinoma of breast	http://purl.obolibrary.org/obo/MONDO_0005051	NCIT:C7950|UMLS:C0279565|UMLS:C0206692|DOID:3457	
MONDO:0005050	biolink:Disease	invasive ductal and lobular carcinoma	An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive.	UMLS:C1334277|NCIT:C7688|EFO:0000552|ICDO:8522/3	mondo.json	infiltrating ductal and lobular carcinoma|invasive duct and lobular carcinoma|invasive ductal and lobular carcinoma	http://purl.obolibrary.org/obo/MONDO_0005050	UMLS:C1334277|NCIT:C7688	
MONDO:0020669	biolink:Disease	paranasal sinus cancer	A primary or metastatic malignant neoplasm involving the paranasal sinuses.	NCIT:C7487	mondo.json	malignant neoplasm of the paranasal sinus|malignant tumor of accessory sinus|malignant accessory sinus neoplasm|malignant neoplasm of paranasal sinus|malignant paranasal sinus tumor|malignant tumor of the paranasal sinus|malignant tumor of paranasal sinus|malignant neoplasm of the accessory sinus|malignant paranasal sinus neoplasm|malignant neoplasm of accessory sinus|malignant accessory sinus tumor|malignant tumor of the accessory sinus	http://purl.obolibrary.org/obo/MONDO_0020669	NCIT:C7487	
MONDO:0017028	biolink:Disease	obsolete secondary interstitial lung disease specific to adulthood associated with a systemic disease		UMLS:CN202340|Orphanet:264745	mondo.json	secondary ILD specific to adulthood associated with a systemic disease	http://purl.obolibrary.org/obo/MONDO_0017028	Orphanet:264745|UMLS:CN202340	ordo_group_of_disorders
MONDO:0044657	biolink:Disease	MME-related autosomal dominant Charcot Marie Tooth disease type 2		OMIM:617017|Orphanet:497757	mondo.json	MME-related autosomal dominant CMT2|MME-related autosomal dominant hereditary motor and sensory neuropathy type 2	http://purl.obolibrary.org/obo/MONDO_0044657	Orphanet:497757	ordo_disease
MONDO:0020668	biolink:Disease	obsolete spastic paraplegia 5B		OMIM:600146|GARD:0004917	mondo.json	moved to 270800|SPG5B	http://purl.obolibrary.org/obo/MONDO_0020668	https://omim.org/entry/600146	gard_rare
MONDO:0017029	biolink:Disease	Langerhans cell histiocytosis specific to adulthood	Langerhans cell histiocytosis that occurs during adulthood.	Orphanet:264750|NCIT:C114929|UMLS:C3900100	mondo.json	Langerhans cell granulomatosis specific to adulthood|Langerhans cell histiocytosis|histiocytosis X specific to adulthood|adult Langerhans cell histiocytosis	http://purl.obolibrary.org/obo/MONDO_0017029	NCIT:C114929|Orphanet:264750|UMLS:C3900100	disease_grouping|ordo_group_of_disorders
MONDO:0020667	biolink:Disease	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		OMIM:207410|Orphanet:596008	mondo.json	ABS2|trapezoidocephaly-synostosis Syndrome|multisynostotic osteodysgenesis with long bone fractures|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis|osteodysgenesis, multisynostotic, with fractures	http://purl.obolibrary.org/obo/MONDO_0020667	Orphanet:596008|https://omim.org/entry/207410	
MONDO:0020666	biolink:Disease	Löfgren syndrome	A sarcoidosis characterized by the triad of erythema nodosum, bilateral hilar lymphadenopathy on chest radiograph, and joint pain.	SCTID:238676008	mondo.json	Loefgrens syndrome|Löfgrens syndrome	http://purl.obolibrary.org/obo/MONDO_0020666	http://identifiers.org/snomedct/238676008	
MONDO:0017024	biolink:Disease	obsolete secondary interstitial lung disease specific to childhood associated with a metabolic disease		Orphanet:264719|UMLS:CN202337	mondo.json	secondary ILD specific to childhood associated with a metabolic disease	http://purl.obolibrary.org/obo/MONDO_0017024	Orphanet:264719|UMLS:CN202337	ordo_group_of_disorders
MONDO:0032687	biolink:Disease	intellectual developmental disorder with abnormal behavior, microcephaly, and short stature		OMIM:618342	mondo.json	INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE|IDDABS	http://purl.obolibrary.org/obo/MONDO_0032687	https://omim.org/entry/618342	
MONDO:0019687	biolink:Disease	obsolete type 11 collagen-related bone disorder			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019687		
MONDO:0030024	biolink:Disease	neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities		OMIM:618859	mondo.json	NEDASB|neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities|NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES	http://purl.obolibrary.org/obo/MONDO_0030024	https://omim.org/entry/618859	
MONDO:0032688	biolink:Disease	polymicrogyria with or without vascular-type ehlers-danlos syndrome		OMIM:618343	mondo.json	polymicrogyria with or without vascular-type EDS|PMGEDSV|POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME	http://purl.obolibrary.org/obo/MONDO_0032688	https://omim.org/entry/618343	
MONDO:0019686	biolink:Disease	obsolete type 2 collagen-related bone disorder			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019686		
MONDO:0017025	biolink:Disease	Langerhans cell histiocytosis specific to childhood	Langerhans cell histiocytosis that occurs during childhood.	NCIT:C114483|Orphanet:264724|UMLS:C3899655	mondo.json	Langerhans cell histiocytosis|Langerhans cell granulomatosis specific to childhood|histiocytosis X specific to childhood|childhood Langerhans cell histiocytosis	http://purl.obolibrary.org/obo/MONDO_0017025	UMLS:C3899655|NCIT:C114483|Orphanet:264724	ordo_group_of_disorders|disease_grouping
MONDO:0032685	biolink:Disease	infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development		OMIM:618339	mondo.json	infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development|CASGID|INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT	http://purl.obolibrary.org/obo/MONDO_0032685	https://omim.org/entry/618339	
MONDO:0017026	biolink:Disease	interstitial lung disease specific to adulthood		Orphanet:264735|UMLS:CN202338	mondo.json	ILD specific to adulthood	http://purl.obolibrary.org/obo/MONDO_0017026	Orphanet:264735|UMLS:CN202338	disease_grouping|ordo_group_of_disorders
NCBITaxon:548681	biolink:OrganismalEntity	Herpesvirales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_548681		
MONDO:0030026	biolink:Disease	retinal dystrophy with leukodystrophy		OMIM:618863	mondo.json	RDLKD|retinal dystrophy with leukodystrophy|RETINAL DYSTROPHY WITH LEUKODYSTROPHY	http://purl.obolibrary.org/obo/MONDO_0030026	https://omim.org/entry/618863	
MONDO:0019689	biolink:Disease	perlecan-related bone disorder		UMLS:CN227675|Orphanet:93424	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019689	Orphanet:93424|UMLS:CN227675	ordo_group_of_disorders|disease_grouping
HGNC:20318	biolink:NamedThing	SMOC1			mondo.json		http://identifiers.org/hgnc/20318		
MONDO:0017027	biolink:Disease	primary interstitial lung disease specific to adulthood		Orphanet:264740|UMLS:CN202339	mondo.json	primary ILD specific to adulthood	http://purl.obolibrary.org/obo/MONDO_0017027	Orphanet:264740|UMLS:CN202339	disease_grouping|ordo_group_of_disorders
MONDO:0019688	biolink:Disease	sulfation-related bone disorder		UMLS:CN227674|Orphanet:93423	mondo.json	sulphation disorder|inborn error of sulphation	http://purl.obolibrary.org/obo/MONDO_0019688	Orphanet:93423|UMLS:CN227674	ordo_group_of_disorders|disease_grouping
MONDO:0032686	biolink:Disease	spermatogenic failure 35		OMIM:618341	mondo.json	SPGF35|SPERMATOGENIC FAILURE 35	http://purl.obolibrary.org/obo/MONDO_0032686	https://omim.org/entry/618341	
MONDO:0030025	biolink:Disease	neurodevelopmental disorder with hypotonia, microcephaly, and seizures		OMIM:618862	mondo.json	neurodevelopmental disorder with hypotonia, microcephaly, and seizures|NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES|NEDHYMS	http://purl.obolibrary.org/obo/MONDO_0030025	https://omim.org/entry/618862	
MONDO:0019683	biolink:Disease	obsolete syndactyly type 2			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019683		
MONDO:0030020	biolink:Disease	combined oxidative phosphorylation deficiency 44		OMIM:618855	mondo.json	COXPD44|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44|combined oxidative phosphorylation deficiency 44	http://purl.obolibrary.org/obo/MONDO_0030020	https://omim.org/entry/618855	
MONDO:0017020	biolink:Disease	obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease		Orphanet:264699|UMLS:CN202333	mondo.json	secondary ILD specific to childhood associated with a systemic disease	http://purl.obolibrary.org/obo/MONDO_0017020	Orphanet:264699|UMLS:CN202333	ordo_group_of_disorders
MONDO:0032684	biolink:Disease	intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency		OMIM:618336	mondo.json	IMAGEI|IMAGE-I syndrome|Imagei Syndrome|INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY	http://purl.obolibrary.org/obo/MONDO_0032684	https://omim.org/entry/618336	
MONDO:0017021	biolink:Disease	obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease		Orphanet:264704|UMLS:CN202334	mondo.json	secondary ILD specific to childhood associated with a connective tissue disease	http://purl.obolibrary.org/obo/MONDO_0017021	Orphanet:264704|UMLS:CN202334	ordo_group_of_disorders
MONDO:0019682	biolink:Disease	congenital sialidosis type 2		Orphanet:93400	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019682	Orphanet:93400	ordo_clinical_subtype
MONDO:0032681	biolink:Disease	encephalopathy, progressive, early-onset, with episodic rhabdomyolysis		OMIM:618331	mondo.json	PEERB|ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS	http://purl.obolibrary.org/obo/MONDO_0032681	https://omim.org/entry/618331	
MONDO:0019685	biolink:Disease	FGFR3-related chondrodysplasia		Orphanet:93420	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019685	Orphanet:93420	disease_grouping|ordo_group_of_disorders
MONDO:0017022	biolink:Disease	obsolete secondary interstitial lung disease specific to childhood associated with a systemic vasculitis		Orphanet:264709|UMLS:CN202335	mondo.json	secondary ILD specific to childhood associated with a systemic vasculitis	http://purl.obolibrary.org/obo/MONDO_0017022	Orphanet:264709|UMLS:CN202335	ordo_group_of_disorders
MONDO:0019684	biolink:Disease	obsolete rare bone disease	OBSOLETE. Rare bone disease.	Orphanet:93419|UMLS:CN206613	mondo.json	rare bone disease	http://purl.obolibrary.org/obo/MONDO_0019684	UMLS:CN206613|Orphanet:93419	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0017023	biolink:Disease	obsolete secondary interstitial lung disease specific to childhood associated with a granulomatous disease		Orphanet:264714|UMLS:CN202336	mondo.json	secondary ILD specific to childhood associated with a granulomatous disease	http://purl.obolibrary.org/obo/MONDO_0017023	Orphanet:264714|UMLS:CN202336	ordo_group_of_disorders
HP:0100303	biolink:PhenotypicFeature	Muscle fiber cytoplasmatic inclusion bodies	The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.	UMLS:C4022157	mondo.json	Muscle fibre cytoplasmatic inclusion bodies|Muscle fibre cytoplasmic bodies|Muscle fiber cytoplasmic bodies	http://purl.obolibrary.org/obo/HP_0100303		
MONDO:0019670	biolink:Disease	ulnar hemimelia	Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone.	Orphanet:93320|ICD9:755.59|SCTID:21893008	mondo.json	ulnar clubhand|congenital longitudinal deficiency of the ulna|ulnar longitudinal meromelia	http://purl.obolibrary.org/obo/MONDO_0019670	http://identifiers.org/snomedct/21893008|Orphanet:93320	ordo_morphological_anomaly
MONDO:0030028	biolink:Disease	neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline		OMIM:618868	mondo.json	CONATOC|NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE|neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline	http://purl.obolibrary.org/obo/MONDO_0030028	https://omim.org/entry/618868	
MONDO:0005028	biolink:Disease	esophageal adenocarcinoma	A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor.	OMIM:109350|EFO:0000478|Orphanet:99976|DOID:4914|UMLS:C0279628|SCTID:276803003|OMIM:614266|ONCOTREE:ESCA|NCIT:C4025	mondo.json	adenocarcinoma of the esophagus|oesophageal adenocarcinoma|esophagus adenocarcinoma|adenocarcinoma - esophagus|adenocarcinoma of esophagus|esophageal adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005028	UMLS:C0279628|http://identifiers.org/snomedct/276803003|Orphanet:99976|DOID:4914|NCIT:C4025	ordo_disease
MONDO:0005027	biolink:Disease	epilepsy	A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.	ICD9:345.80|ICD9:345.90|ICD9:345.9|ICD9:345.8|EFO:0000474|SCTID:84757009|NCIT:C3020|ICD9:345.91|DOID:1826|ICD10WHO:G40|MESH:D004827|ICD10CM:G40|ICD9:345|NIFSTD:birnlex_12718	mondo.json	epilepsy|seizure disorder	http://purl.obolibrary.org/obo/MONDO_0005027	https://icd.who.int/browse10/2019/en#/G40|http://identifiers.org/snomedct/84757009|http://purl.bioontology.org/ontology/ICD10CM/G40|DOID:1826|NCIT:C3020|http://identifiers.org/mesh/D004827	
MONDO:0030027	biolink:Disease	tremor, hereditary essential, 6		OMIM:618866	mondo.json	ETM6|TREMOR, HEREDITARY ESSENTIAL, 6|tremor, hereditary essential, 6	http://purl.obolibrary.org/obo/MONDO_0030027	https://omim.org/entry/618866	
MONDO:0007689	biolink:Disease	guanylate kinase 3		OMIM:139290	mondo.json	GUK3|guanylate kinase type 3|guanylate KINASE 3|guanylate kinase 3	http://purl.obolibrary.org/obo/MONDO_0007689	https://omim.org/entry/139290	
MONDO:0032689	biolink:Disease	retinitis pigmentosa 85		OMIM:618345	mondo.json	RETINITIS PIGMENTOSA 85|RP85	http://purl.obolibrary.org/obo/MONDO_0032689	https://omim.org/entry/618345	
MONDO:0005029	biolink:Disease	essential thrombocythemia	A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008)	SCTID:109994006|EFO:0000479|NCIT:C3407|ICD9:238.71|MESH:D013920|ONCOTREE:ET|Orphanet:3318|DOID:2224|MedDRA:10015493|UMLS:C0040028|GARD:0006594|ICDO:9962/3|Orphanet:71493	mondo.json	ET|essential thrombocythemia|primary thrombocytosis|idiopathic thrombocythemia|essential thrombocythaemia|primary thrombocythemia|essential thrombocytemia|hemorrhagic thrombocythemia|essential thrombocytosis	http://purl.obolibrary.org/obo/MONDO_0005029	Orphanet:3318|http://identifiers.org/mesh/D013920|UMLS:C0040028|DOID:2224|http://identifiers.org/snomedct/109994006|NCIT:C3407	ordo_disease|gard_rare
MONDO:0030029	biolink:Disease	skeletal dysplasia, mild, with joint laxity and advanced bone age		OMIM:618870	mondo.json	SDJLABA|skeletal dysplasia, mild, with joint laxity and advanced bone age|SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE	http://purl.obolibrary.org/obo/MONDO_0030029	https://omim.org/entry/618870	
HGNC:22954	biolink:NamedThing	POGLUT1			mondo.json		http://identifiers.org/hgnc/22954		
HGNC:10968	biolink:NamedThing	SLC22A4			mondo.json		http://identifiers.org/hgnc/10968		
MONDO:0020665	biolink:Disease	high grade malignant neoplasm		NCIT:C36046	mondo.json	high grade malignant neoplasm	http://purl.obolibrary.org/obo/MONDO_0020665	NCIT:C36046	
MONDO:0007687	biolink:Disease	graying of hair, precocious		OMIM:139100|UMLS:C1841809|MESH:C564209	mondo.json	White hair, premature|graying of hair, precocious	http://purl.obolibrary.org/obo/MONDO_0007687	http://identifiers.org/mesh/C564209|https://omim.org/entry/139100|UMLS:C1841809	
MONDO:0005024	biolink:Disease	obsolete emphysema			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005024		
MONDO:0005023	biolink:Disease	ductal breast carcinoma in situ	A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS.	NCIT:C2924|EFO:0000432|DOID:0060074|MESH:D002285|ICDO:8500/2|ONCOTREE:DCIS|ICD9:233.0	mondo.json	non-infiltrating ductal adenocarcinoma of breast|non-invasive intraductal adenocarcinoma of breast|carcinoma in situ of mammary duct|non-invasive intraductal adenocarcinoma of the breast|ductal breast carcinoma in situ|non-infiltrating ductal adenocarcinoma of the breast|intraductal breast carcinoma|intraductal carcinoma of breast|mammary duct carcinoma in situ|non-infiltrating ductal breast adenocarcinoma|non-invasive intraductal breast adenocarcinoma|intraductal carcinoma of the breast|ductal carcinoma in situ|non-invasive ductal carcinoma of breast|non-invasive ductal carcinoma of the breast|non-infiltrating ductal breast carcinoma|non-invasive ductal adenocarcinoma of breast|intraductal carcinoma|non-infiltrating intraductal adenocarcinoma of breast|ductal carcinoma in situ (DCIS)|stage 0 mammary duct carcinoma|non-invasive ductal adenocarcinoma of the breast|non-infiltrating intraductal adenocarcinoma of the breast|non-infiltrating intraductal breast adenocarcinoma|non-infiltrating intraductal carcinoma|non-invasive ductal breast adenocarcinoma|non-infiltrating ductal carcinoma of breast|ductal carcinoma in situ of breast|non-infiltrating ductal carcinoma of the breast|breast ductal carcinoma in situ|non-infiltrating intraductal adenocarcinoma|non-invasive ductal breast carcinoma|DCIS|mammary duct in situ carcinoma|ductal carcinoma in situ of the breast	http://purl.obolibrary.org/obo/MONDO_0005023	NCIT:C2924|DOID:0060074|http://identifiers.org/mesh/D002285	
MONDO:0020664	biolink:Disease	spindle cell neoplasm	A benign or malignant neoplasm characterized by the presence of neoplastic spindle cells.	NCIT:C27263|EFO:0000705	mondo.json	spindle cell tumor|spindle cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0020664	NCIT:C27263	
MONDO:0007688	biolink:Disease	Myhre syndrome	Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.	SCTID:699316006|Orphanet:2588|OMIM:139210|NCIT:C123815|MESH:C537620|GARD:0002572|UMLS:C0796081|ICD9:759.89	mondo.json	MYHRS|MYHRE syndrome|Myhre syndrome|facial dysmorphism - intellectual deficit - short stature - hearing loss|Growth-mental deficiency syndrome of Myhre|Growth mental deficiency syndrome of Myhre|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome|laryngotracheal stenosis, arthropathy, prognathism, and short stature|LAPS syndrome	http://purl.obolibrary.org/obo/MONDO_0007688	Orphanet:2588|http://identifiers.org/mesh/C537620|http://identifiers.org/snomedct/699316006|https://omim.org/entry/139210|UMLS:C0796081|NCIT:C123815	ordo_malformation_syndrome|gard_rare
MONDO:0044675	biolink:Disease	LRP5-related primary osteoporosis		Orphanet:498481	mondo.json		http://purl.obolibrary.org/obo/MONDO_0044675	Orphanet:498481	ordo_malformation_syndrome
HGNC:10969	biolink:NamedThing	SLC22A5			mondo.json		http://identifiers.org/hgnc/10969		
MONDO:0005026	biolink:Disease	endometrioid adenocarcinoma	An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament.	NCIT:C3769|EFO:0000466|UMLS:C0206687|ICDO:8380/3|UMLS:C1569637	mondo.json	endometrioid carcinoma of female reproductive system|endometrioid adenocarcinoma|endometrioid carcinoma of the female reproductive system|female reproductive endometrioid carcinoma|endometrioid carcinoma	http://purl.obolibrary.org/obo/MONDO_0005026	UMLS:C1569637|UMLS:C0206687|NCIT:C3769	
MONDO:0020663	biolink:Disease	malignant spindle cell neoplasm	A malignant neoplasm characterized by the presence of atypical spindle cells.	NCIT:C27091	mondo.json	malignant spindle cell neoplasm|spindle cell cancer|malignant spindle cell tumor	http://purl.obolibrary.org/obo/MONDO_0020663	NCIT:C27091	
MONDO:0007685	biolink:Disease	granulosis rubra nasi		MESH:C562483|UMLS:C0263471|OMIM:139000|SCTID:22818000|ICD9:705.89	mondo.json	granulosis rubra nasi	http://purl.obolibrary.org/obo/MONDO_0007685	http://identifiers.org/snomedct/22818000|UMLS:C0263471|https://omim.org/entry/139000|http://identifiers.org/mesh/C562483	
MONDO:0020662	biolink:Disease	borderline ovarian serous tumor	A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion.	NCIT:C5226	mondo.json	proliferating serous tumor of the ovary|proliferating serous tumor of ovary|ovarian serous neoplasm of low malignant potential|borderline serous neoplasm of the ovary|proliferating ovarian serous neoplasm|serous ovarian tumor of low malignant potential|borderline serous neoplasm of ovary|borderline ovarian serous tumor|borderline serous tumor of the ovary|borderline serous tumor of ovary|serous ovarian neoplasm of low malignant potential|serous tumor of ovary with low malignant potential|serous tumor of the ovary with low malignant potential|ovarian serous tumor of low malignant potential|serous neoplasm of ovary with low malignant potential|proliferating serous neoplasm of the ovary|proliferating ovarian serous tumor|proliferating serous neoplasm of ovary|serous neoplasm of the ovary with low malignant potential|borderline ovarian serous neoplasm	http://purl.obolibrary.org/obo/MONDO_0020662	NCIT:C5226	
MONDO:0005025	biolink:Disease	endocarditis	Inflammation of the endocardium.	DOID:10314|EFO:0000465|ICD9:421.9|MESH:D004696|NCIT:C34582|HP:0100584|ICD9:424.99|SCTID:56819008	mondo.json	endocarditis|endocarditis (disease)|endocardium inflammation|inflammation of endocardium	http://purl.obolibrary.org/obo/MONDO_0005025	NCIT:C34582|http://identifiers.org/snomedct/56819008|DOID:10314|http://identifiers.org/mesh/D004696	
MONDO:0007686	biolink:Disease	gray platelet syndrome	Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.	SCTID:51720005|UMLS:C0272302|MESH:D055652|UMLS:CN205641|OMIM:139090|GARD:0002562|NCIT:C84741|UMLS:C2717750|DOID:0111044|Orphanet:721	mondo.json	platelet alpha-granule deficiency|bleeding disorder, Platelet-type, 4|grey platelet syndrome|marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins|GPS|Alpha storage pool deficiency|platelet-type bleeding disorder 4|gray platelet syndrome|BDPLT4	http://purl.obolibrary.org/obo/MONDO_0007686	http://identifiers.org/mesh/D055652|DOID:0111044|Orphanet:721|https://omim.org/entry/139090|UMLS:C2717750|UMLS:CN205641|NCIT:C84741|UMLS:C0272302|http://identifiers.org/snomedct/51720005	ordo_disease|gard_rare
MONDO:0007683	biolink:Disease	Grant syndrome	Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.	Orphanet:2097|SCTID:723827003|UMLS:C1841835|MESH:C537293|GARD:0002559|OMIM:138930	mondo.json	Grant syndrome|persistent wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia	http://purl.obolibrary.org/obo/MONDO_0007683	http://identifiers.org/snomedct/723827003|UMLS:C1841835|https://omim.org/entry/138930|Orphanet:2097|http://identifiers.org/mesh/C537293	ordo_malformation_syndrome|gard_rare
MONDO:0005020	biolink:Disease	intestinal disorder	A non-neoplastic or neoplastic disorder that affects the small or large intestine.	ICD9:520-579.99|ICD9:564|ICD9:575|ICD9:569.49|ICD9:569.4|ICD9:569.89|SCTID:85919009|ICD9:570-579.99|ICD9:569.9|ICD9:560-569.99|DOID:5295|NCIT:C26801|MESH:D007410|ICD9:564.4|ICD9:569	mondo.json	disease, intestinal|intestine disease or disorder|intestinal disorder|disorder of intestine|diseases, intestinal|intestine disease|disease or disorder of intestine|intestinal disease|disease of intestine	http://purl.obolibrary.org/obo/MONDO_0005020	http://identifiers.org/mesh/D007410|http://identifiers.org/snomedct/85919009|NCIT:C26801|DOID:5295	
MONDO:0020661	biolink:Disease	undifferentiated round cell sarcoma	An undifferentiated soft tissue sarcoma characterized by the presence of uniform round or ovoid malignant cells with a high nuclear to cytoplasmic ratio.	NCIT:C121799	mondo.json	undifferentiated round cell sarcoma	http://purl.obolibrary.org/obo/MONDO_0020661	NCIT:C121799	
MONDO:0020660	biolink:Disease	osteoblastic osteosarcoma	A conventional osteosarcoma characterized by the predominance of osteoid matrix.	NCIT:C53953	mondo.json	osteoblastic osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0020660	NCIT:C53953	
MONDO:0007684	biolink:Disease	obsolete granulomatous disease, chronic, autosomal dominant type			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007684		
MONDO:0007681	biolink:Disease	goiter, multinodular 1, with or without Sertoli-Leydig cell tumors	Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene.	SCTID:267369002|ICD9:240.0|UMLS:CN202615|Orphanet:276399|OMIM:138800|MESH:C562732	mondo.json	euthyroid goiter|multinodular goiter, adolescent|FMNG|MNG1|simple goiter|goiter, nontoxic, with Intrathyroidal calcification|familial MNG|goiter, multinodular 1, with or without Sertoli-Leydig cell tumors	http://purl.obolibrary.org/obo/MONDO_0007681	Orphanet:276399|http://identifiers.org/mesh/C562732|https://omim.org/entry/138800|UMLS:CN202615|http://identifiers.org/snomedct/267369002	ordo_disease
MONDO:0005022	biolink:Disease	obsolete ductal breast adenocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005022		
MONDO:0005021	biolink:Disease	dilated cardiomyopathy	Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure.	KEGG:05414|SCTID:195021004|Orphanet:217604|MP:0002795|HP:0001644|NCIT:C84673|ICD10CM:I42.0|UMLS:C0007193|DOID:12930|EFO:0000407|MedDRA:10056370|ICD9:425.4|MESH:D002311	mondo.json	idiopathic dilation cardiomyopathy|dilated cardiomyopathy|congestive cardiomyopathy|familial dilated cardiomyopathy|primary dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0005021	UMLS:C0007193|DOID:12930|http://identifiers.org/snomedct/195021004|http://purl.bioontology.org/ontology/ICD10CM/I42.0|Orphanet:217604|NCIT:C84673|http://identifiers.org/mesh/D002311	ordo_group_of_disorders|disease_grouping
MONDO:0007682	biolink:Disease	granddad syndrome		MESH:C564211|UMLS:C1841836|OMIM:138920	mondo.json	granddad syndrome|Growth retardation, aged facies, normal development, decreased subcutaneous fat, autosomal dominant inheritance	http://purl.obolibrary.org/obo/MONDO_0007682	http://identifiers.org/mesh/C564211|UMLS:C1841836|https://omim.org/entry/138920	
MONDO:0032690	biolink:Disease	microcephaly, growth deficiency, seizures, and brain malformations		OMIM:618346	mondo.json	MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS|MIGSB	http://purl.obolibrary.org/obo/MONDO_0032690	https://omim.org/entry/618346	
MONDO:0007680	biolink:Disease	multinodular goiter-cystic kidney-polydactyly syndrome	Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.	UMLS:C1841853|GARD:0001671|OMIM:138790|Orphanet:2091|SCTID:723409007|MESH:C535986	mondo.json	Daneman-Davy-Mancer syndrome|MNG/CRD/Da|goiter, multinodular, cystic renal disease, and digital anomalies|thyroid-renal-digital anomalies|multinodular goiter - cystic kidney - polydactyly|multinodular goiter/cystic renal disease/digital anomalies|multinodular goiter, cystic renal disease, and digital anomalies|Daneman Davy Mancer syndrome	http://purl.obolibrary.org/obo/MONDO_0007680	http://identifiers.org/mesh/C535986|UMLS:C1841853|https://omim.org/entry/138790|Orphanet:2091|http://identifiers.org/snomedct/723409007	ordo_malformation_syndrome
MONDO:0032691	biolink:Disease	Galloway-Mowat syndrome 6		OMIM:618347	mondo.json	GALLOWAY-MOWAT SYNDROME 6|GAMOS6	http://purl.obolibrary.org/obo/MONDO_0032691	https://omim.org/entry/618347	
MONDO:0020659	biolink:Disease	upper tract urothelial carcinoma		Orphanet:598216|ONCOTREE:UTUC	mondo.json	transitional cell carcinoma of the upper urinary tract|UTUC|transitional cell carcinoma of the pelvis and ureter	http://purl.obolibrary.org/obo/MONDO_0020659	Orphanet:598216	ordo_disease
MONDO:0017017	biolink:Disease	obsolete primary interstitial lung disease specific to childhood due to alveolar vascular disorder		Orphanet:264683|UMLS:CN202329	mondo.json	primary ILD specific to childhood due to alveolar vascular disorder	http://purl.obolibrary.org/obo/MONDO_0017017	Orphanet:264683|UMLS:CN202329	ordo_group_of_disorders
MONDO:0020658	biolink:Disease	infiltrating ureter transitional cell carcinoma		DOID:6845	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020658	DOID:6845	
HGNC:19309	biolink:NamedThing	KANK1			mondo.json		http://identifiers.org/hgnc/19309		
HGNC:10975	biolink:NamedThing	SLC24A1			mondo.json		http://identifiers.org/hgnc/10975		
MONDO:0019679	biolink:Disease	brachydactyly type A7	Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features.	GARD:0000984|UMLS:CN206603|Orphanet:93397|SCTID:720571006	mondo.json	brachydactyly Smorgasbord type|brachydactyly, Smorgasbord type	http://purl.obolibrary.org/obo/MONDO_0019679	http://identifiers.org/snomedct/720571006|UMLS:CN206603|Orphanet:93397	gard_rare|ordo_malformation_syndrome
MONDO:0020657	biolink:Disease	human papillomavirus-related squamous cell carcinoma		NCIT:C27683	mondo.json	human papillomavirus-related squamous cell carcinoma|human papilloma virus-related squamous cell carcinoma|human papilloma virus related squamous cell carcinoma|HPV-related squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0020657	NCIT:C27683	
MONDO:0017018	biolink:Disease	isolated pulmonary capillaritis	Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative.	ICD9:448.9|Orphanet:264691|SCTID:707436001|UMLS:C3873357	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017018	http://identifiers.org/snomedct/707436001|UMLS:C3873357|Orphanet:264691	ordo_disease
MONDO:0017019	biolink:Disease	interstitial lung disease specific to infancy		UMLS:CN202332|Orphanet:264694	mondo.json	ILD specific to infancy	http://purl.obolibrary.org/obo/MONDO_0017019	UMLS:CN202332|Orphanet:264694	ordo_group_of_disorders|disease_grouping
MONDO:0020656	biolink:Disease	human papillomavirus-related penile squamous cell carcinoma	A squamous cell carcinoma that arises from the penis and is caused by human papillomavirus infection. Morphologic variants include basaloid carcinoma and warty carcinoma.	NCIT:C27682	mondo.json	human papillomavirus-related penile squamous cell carcinoma|HPV-related penile squamous cell carcinoma|human papilloma virus related penile squamous cell carcinoma|human papilloma virus-related penile squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0020656	NCIT:C27682	
MONDO:0020655	biolink:Disease	juvenile ankylosing spondylitis		SCTID:239805001|DOID:0040092	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020655	DOID:0040092|http://identifiers.org/snomedct/239805001	
HP:0002072	biolink:PhenotypicFeature	Chorea	Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.	UMLS:C4020858|SNOMEDCT_US:271700006|UMLS:C0008489|MSH:D002819	mondo.json	Choreiform movements|Choreatic disease|Choreic movements	http://purl.obolibrary.org/obo/HP_0002072		
MONDO:0032698	biolink:Disease	neurodevelopmental disorder with central and peripheral motor dysfunction		OMIM:618356	mondo.json	NEDCPMD|NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION	http://purl.obolibrary.org/obo/MONDO_0032698	https://omim.org/entry/618356	
MONDO:0019676	biolink:Disease	brachydactyly type B	A condition characterized by incomplete development (hypoplasia) or absence of the outermost bones of the fingers and toes (distal phalanges) and nails. Additional features may include hypoplasia of the middle phalanges, fusion of the joints (symphalangism), broad thumbs, and webbed fingers (syndactyly). The feet are often less severely affected than the hands. There are 2 types of this condition, designated as type 1 and 2. BDB type 1 is caused by mutations in the ROR2 gene. BDB type 2 is caused by mutations in the NOG gene. Inheritance of both types is autosomal dominant. Treatment may include surgery if the condition affects hand function, or for cosmetic reasons.	Orphanet:93383|UMLS:C1300267|SCTID:389168002|GARD:0000985	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019676	UMLS:C1300267|http://identifiers.org/snomedct/389168002|Orphanet:93383	ordo_malformation_syndrome
MONDO:0017013	biolink:Disease	trisomy 8p	Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.	MESH:C538019|Orphanet:264450	mondo.json	Duplication 8p|trisomy type 8p	http://purl.obolibrary.org/obo/MONDO_0017013	Orphanet:264450|http://identifiers.org/mesh/C538019	ordo_malformation_syndrome
MONDO:0030035	biolink:Disease	leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome		OMIM:618877	mondo.json	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME|leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome|Leuden Syndrome|LEUDEN	http://purl.obolibrary.org/obo/MONDO_0030035	https://omim.org/entry/618877	
MONDO:0017014	biolink:Disease	interstitial lung disease specific to childhood	A interstitial lung disease that occurs during childhood.	UMLS:CN202324|SCTID:328661000119108|Orphanet:264656	mondo.json	chILD|pediatric interstitial lung disease|interstitial lung disease of childhood|childhood interstitial lung disease|ILD specific to childhood|chILD syndrome	http://purl.obolibrary.org/obo/MONDO_0017014	http://identifiers.org/snomedct/328661000119108|Orphanet:264656|UMLS:CN202324	disease_grouping|ordo_group_of_disorders
MONDO:0032699	biolink:Disease	epilepsy, idiopathic generalized, susceptibility to, 15		DOID:0111316|OMIM:618357	mondo.json	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15|EIG15	http://purl.obolibrary.org/obo/MONDO_0032699	https://omim.org/entry/618357|DOID:0111316	
MONDO:0019675	biolink:Disease	spondyloepimetaphyseal dysplasia with joint laxity	A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment.	SCTID:254100000|ICD9:756.9|GARD:0004982|MESH:C562968|ICD9:719.80|OMIMPS:271640|DOID:0112197|Orphanet:93359	mondo.json	spondyloepimetaphyseal dysplasia with joint laxity|SEMDJL1|SEMD-JL|spondyloepimetaphyseal dysplasia joint laxity|spondyloepimetaphyseal dysplasia with joint laxity type 1|spondyloepimetaphyseal dysplasia with joint laxity, Beighton type|SEMDJL	http://purl.obolibrary.org/obo/MONDO_0019675	https://omim.org/phenotypicSeries/PS271640|Orphanet:93359|http://identifiers.org/mesh/C562968|http://identifiers.org/snomedct/254100000|DOID:0112197	ordo_disease|gard_rare
MONDO:0030034	biolink:Disease	epilepsy, progressive myoclonic, 11		OMIM:618876	mondo.json	EPILEPSY, PROGRESSIVE MYOCLONIC, 11|epilepsy, progressive myoclonic, 11|EPM11	http://purl.obolibrary.org/obo/MONDO_0030034	https://omim.org/entry/618876	
MONDO:0017015	biolink:Disease	primary interstitial lung disease specific to childhood		UMLS:CN202326|Orphanet:264665|GARD:0010559	mondo.json	primary ILD specific to childhood|children's interstitial lung disease|child|primary interstitial lung disease specific to childhood	http://purl.obolibrary.org/obo/MONDO_0017015	Orphanet:264665|UMLS:CN202326	disease_grouping|ordo_group_of_disorders|gard_rare
MONDO:0032696	biolink:Disease	oocyte maturation defect 6		OMIM:618353	mondo.json	OOMD6|OOCYTE MATURATION DEFECT 6	http://purl.obolibrary.org/obo/MONDO_0032696	https://omim.org/entry/618353	
CHR:9606-chr8p23	biolink:NamedThing	8p23 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr8p23		
MONDO:0019678	biolink:Disease	brachydactyly type A5	Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb.	OMIM:112900|MESH:C537091|GARD:0000982|UMLS:C1862138|SCTID:720570007|Orphanet:93389	mondo.json	brachydactyly with absence of middle phalanges and hypoplastic nails|absent middle phalanges of digits 2-5 with nail dysplasia|brachydactyly type A5 nail dysplasia	http://purl.obolibrary.org/obo/MONDO_0019678	http://identifiers.org/snomedct/720570007|UMLS:C1862138|http://identifiers.org/mesh/C537091	gard_rare|ordo_malformation_syndrome
MONDO:0030037	biolink:Disease	neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures		OMIM:618879	mondo.json	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES|neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures|Glycosylphosphatidylinositol Biosynthesis Defect 22|NEDHCAS	http://purl.obolibrary.org/obo/MONDO_0030037	https://omim.org/entry/618879	
MONDO:0030036	biolink:Disease	leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome		OMIM:618878	mondo.json	LEMSPAD|Lemspad Syndrome|leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome|LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME	http://purl.obolibrary.org/obo/MONDO_0030036	https://omim.org/entry/618878	
HP:0002071	biolink:PhenotypicFeature	Abnormality of extrapyramidal motor function	A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).	MSH:D001480|UMLS:C0234133|SNOMEDCT_US:43378000|UMLS:C0015371|SNOMEDCT_US:76349003	mondo.json	Extrapyramidal syndrome|Extrapyramidal tract signs|Extrapyramidal signs|Extrapyramidal dysfunction|Extrapyramidal symptoms	http://purl.obolibrary.org/obo/HP_0002071		
MONDO:0032697	biolink:Disease	neurodevelopmental disorder and language delay with or without structural brain abnormalities		OMIM:618354	mondo.json	NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES|NEDLBA	http://purl.obolibrary.org/obo/MONDO_0032697	https://omim.org/entry/618354	
MONDO:0017016	biolink:Disease	obsolete primary interstitial lung disease specific to childhood due to alveolar structure disorder		Orphanet:264670|UMLS:CN202327	mondo.json	primary ILD specific to childhood due to alveolar structure disorder	http://purl.obolibrary.org/obo/MONDO_0017016	Orphanet:264670|UMLS:CN202327	ordo_group_of_disorders
MONDO:0019677	biolink:Disease	brachydactyly type E	Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.	Orphanet:93387|GARD:0000987	mondo.json	type E brachydactyly	http://purl.obolibrary.org/obo/MONDO_0019677	Orphanet:93387	ordo_malformation_syndrome
HGNC:22947	biolink:NamedThing	NLRP7			mondo.json		http://identifiers.org/hgnc/22947		
MONDO:0030031	biolink:Disease	lissencephaly 10		OMIM:618873	mondo.json	lissencephaly 10|LISSENCEPHALY 10|LIS10	http://purl.obolibrary.org/obo/MONDO_0030031	https://omim.org/entry/618873	
MONDO:0032694	biolink:Disease	microcephaly 25, primary, autosomal recessive		OMIM:618351	mondo.json	MCPH25|MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE	http://purl.obolibrary.org/obo/MONDO_0032694	https://omim.org/entry/618351	
HP:0002076	biolink:PhenotypicFeature	Migraine	Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.	UMLS:C0149931|MSH:D008881|UMLS:C0744641|SNOMEDCT_US:37796009	mondo.json	Migraine headaches|Migraine headache|Intermittent migraine headaches|Migraine	http://purl.obolibrary.org/obo/HP_0002076		
MONDO:0019672	biolink:Disease	fibular hemimelia	Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone.	Orphanet:93323	mondo.json	congenital longitudinal deficiency of the fibula|fibular longitudinal meromelia	http://purl.obolibrary.org/obo/MONDO_0019672	Orphanet:93323	ordo_morphological_anomaly
MONDO:0017010	biolink:Disease	partial duplication of the long arm of chromosome X	Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person.	Orphanet:263783|UMLS:C0795891|MESH:C536732|GARD:0005369	mondo.json	trisomy Xq|partial trisomy Xq|partial trisomy of chromosome Xq|chromosome Xq duplication|partial trisomy of the long arm of chromosome X|Xq trisomy|Duplication Xq|partial duplication of chromosome Xq|Xq duplication|partial duplication of the long arm of chromosome type X	http://purl.obolibrary.org/obo/MONDO_0017010	UMLS:C0795891|http://identifiers.org/mesh/C536732|Orphanet:263783	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0019671	biolink:Disease	radial hemimelia	Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius.	Orphanet:93321|ICD9:755.59|SCTID:48008009|GARD:0000225	mondo.json	congenital longitudinal deficiency of the radius|radial ray agenesis|radial longitidinal meromelia|radial clubhand	http://purl.obolibrary.org/obo/MONDO_0019671	Orphanet:93321|http://identifiers.org/snomedct/48008009	ordo_morphological_anomaly
MONDO:0030030	biolink:Disease	Nizon-Isidor syndrome		OMIM:618872	mondo.json	NIZIDS|NIZON-ISIDOR SYNDROME|nizon-isidor syndrome	http://purl.obolibrary.org/obo/MONDO_0030030	https://omim.org/entry/618872	
MONDO:0032692	biolink:Disease	Galloway-Mowat syndrome 7		OMIM:618348	mondo.json	GALLOWAY-MOWAT SYNDROME 7|GAMOS7	http://purl.obolibrary.org/obo/MONDO_0032692	https://omim.org/entry/618348	
MONDO:0019674	biolink:Disease	postaxial polydactyly type B		UMLS:C1868120|OMIM:174200|SCTID:715707008|Orphanet:93335	mondo.json	PAPB	http://purl.obolibrary.org/obo/MONDO_0019674	UMLS:C1868120|http://identifiers.org/snomedct/715707008|Orphanet:93335	ordo_morphological_anomaly
MONDO:0017011	biolink:Disease	obsolete uniparental disomy of chromosome X		Orphanet:263793	mondo.json	UPD(X)|uniparental disomy of chromosome type X	http://purl.obolibrary.org/obo/MONDO_0017011	Orphanet:263793	ordo_group_of_disorders|disease_grouping
MONDO:0030033	biolink:Disease	seizures, early-onset, with neurodegeneration and brain calcifications		OMIM:618875	mondo.json	seizures, early-onset, with neurodegeneration and brain calcification|seizures, early-onset, with neurodegeneration and brain calcifications|SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS|SENEBAC	http://purl.obolibrary.org/obo/MONDO_0030033	https://omim.org/entry/618875	
MONDO:0017012	biolink:Disease	partial duplication of the short arm of chromosome 1		Orphanet:264431	mondo.json	partial duplication of chromosome 1p|partial duplication of the short arm of chromosome type 1|partial trisomy of chromosome 1p	http://purl.obolibrary.org/obo/MONDO_0017012	Orphanet:264431	ordo_group_of_disorders|disease_grouping
MONDO:0019673	biolink:Disease	postaxial polydactyly type A		SCTID:715704001|UMLS:C3887487|HP:0005696|Orphanet:93334	mondo.json	PAPA|postaxial polydactyly type A|postaxial polydactyly type A (disease)	http://purl.obolibrary.org/obo/MONDO_0019673	Orphanet:93334|http://identifiers.org/snomedct/715704001|UMLS:C3887487	ordo_morphological_anomaly
MONDO:0032693	biolink:Disease	Galloway-Mowat syndrome 8		OMIM:618349	mondo.json	GALLOWAY-MOWAT SYNDROME 8|GAMOS8	http://purl.obolibrary.org/obo/MONDO_0032693	https://omim.org/entry/618349	
MONDO:0030032	biolink:Disease	obsolete chromosome 17q11.2 duplication syndrome, 1.4-mb			mondo.json	chromosome 17q11.2 duplication syndrome, 1.4-mb, isolated cases	http://purl.obolibrary.org/obo/MONDO_0030032		
HP:0100306	biolink:PhenotypicFeature	Muscle fiber hyaline bodies		UMLS:C4022155	mondo.json	Muscle fibre hyaline bodies	http://purl.obolibrary.org/obo/HP_0100306		
HP:0100314	biolink:PhenotypicFeature	Cerebral inclusion bodies	Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain.	UMLS:C4022149	mondo.json		http://purl.obolibrary.org/obo/HP_0100314		
HGNC:22962	biolink:NamedThing	MED13L			mondo.json		http://identifiers.org/hgnc/22962		
MONDO:0044680	biolink:Disease	obsolete short rib-polydactyly syndrome type 5			mondo.json		http://purl.obolibrary.org/obo/MONDO_0044680		
MONDO:0005039	biolink:Disease	reproductive system disorder	A disease involving the reproductive system.	DOID:15|NCIT:C4875|SCTID:362968007|Wikipedia:Reproductive_system_disease|UMLS:C0178829|EFO:0000512	mondo.json	reproductive disease|disease or disorder of reproductive system|genital disorders|genital system disease|disorder of reproductive system|reproductive system disease|disease of reproductive system|reproductive system disease or disorder|reproductive system disorder	http://purl.obolibrary.org/obo/MONDO_0005039	http://identifiers.org/snomedct/362968007|DOID:15|NCIT:C4875|UMLS:C0178829	
HP:0002090	biolink:PhenotypicFeature	Pneumonia	Inflammation of any part of the lung parenchyma.	MSH:D011014|SNOMEDCT_US:233604007|UMLS:C0032285	mondo.json	Pneumonia	http://purl.obolibrary.org/obo/HP_0002090		
MONDO:0030038	biolink:Disease	glaucoma, primary closed-angle		OMIM:618880	mondo.json	GLAUCOMA, PRIMARY CLOSED-ANGLE|glaucoma, primary closed-angle|GLCC	http://purl.obolibrary.org/obo/MONDO_0030038	https://omim.org/entry/618880	
MONDO:0005038	biolink:Disease	obsolete genetic disorder			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005038		
FOODON:03411087	biolink:NamedThing	obsolete: human as milk source			mondo.json		http://purl.obolibrary.org/obo/FOODON_03411087		
HGNC:20303	biolink:NamedThing	SLC30A8			mondo.json		http://identifiers.org/hgnc/20303		
HGNC:22965	biolink:NamedThing	PEX26			mondo.json		http://identifiers.org/hgnc/22965		
MONDO:0020654	biolink:Disease	renal pelvis/ureter urothelial carcinoma	A transitional cell carcinoma that arises from the renal pelvis and ureter.	NCIT:C7716	mondo.json	transitional cell cancer of the renal pelvis and ureter|transitional cell cancer of renal pelvis and ureter|renal pelvis and ureter urothelial carcinoma|transitional cell carcinoma of renal pelvis and ureter|TCC of the renal pelvis and ureter|renal pelvis and ureter TCC|TCC of renal pelvis and ureter|urothelial carcinoma of the renal pelvis and ureter|renal pelvis and ureter transitional cell carcinoma|renal pelvis and ureter transitional cell cancer	http://purl.obolibrary.org/obo/MONDO_0020654	NCIT:C7716	
MONDO:0007698	biolink:Disease	hand-foot-genital syndrome	Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.	MedDRA:10072361|Orphanet:2438|GARD:0002594|DOID:0060739|ICD9:759.89|UMLS:C1841679|MESH:C535627|SCTID:702425002|OMIM:140000	mondo.json	hand-foot-uterus syndrome|hand-foot-genital syndrome|HFGS|hand foot genital syndrome|HFU syndrome|HFG|HFG syndrome|hand foot uterus syndrome	http://purl.obolibrary.org/obo/MONDO_0007698	http://identifiers.org/mesh/C535627|UMLS:C1841679|http://identifiers.org/snomedct/702425002|DOID:0060739|https://omim.org/entry/140000|Orphanet:2438	ordo_malformation_syndrome
MONDO:0005035	biolink:Disease	ganglioneuroblastoma	A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular.	NCIT:C3790|ICD9:171.9|ONCOTREE:GNBL|HP:0006747|ICDO:9490/3|UMLS:C0206718|NIFSTD:birnlex_12633|Orphanet:251877|MESH:D018305|MedDRA:10017708|EFO:0000502|SCTID:116381000119105|DOID:4163	mondo.json	ganglioneuroblastoma (disease)|ganglioneuroblastoma (morphologic abnormality)|ganglioneuroblastoma|ganglioneuroblastoma, malignant	http://purl.obolibrary.org/obo/MONDO_0005035	DOID:4163|UMLS:C0206718|http://identifiers.org/mesh/D018305|Orphanet:251877|NCIT:C3790|http://identifiers.org/snomedct/116381000119105	ordo_disease
MONDO:0044687	biolink:Disease	chronic relapsing inflammatory optic neuropathy		Orphanet:499085	mondo.json	CRION|chronic recurrent isolated optic neuritis	http://purl.obolibrary.org/obo/MONDO_0044687	Orphanet:499085	ordo_disease
HGNC:10979	biolink:NamedThing	SLC25A1			mondo.json		http://identifiers.org/hgnc/10979		
MONDO:0007699	biolink:Disease	Hashimoto thyroiditis	An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism.	DOID:7188|OMIM:140300|Orphanet:855|ICD10CM:E06.3|NCIT:C27191|MESH:D050031|Wikipedia:Hashimoto's_thyroiditis|ICD9:245.2|EFO:0003779|UMLS:C0677607	mondo.json	syndromes, Hashimoto's|Hashimoto thyroiditis|Hashimoto's disease|chronic lymphocytic thyroiditis|Hashimoto's syndrome|Hashimoto thyroiditides|Hashimoto syndrome|Ht|HT|Hashimoto disease|chronic lymphocytic thyroiditides|hypothyroidism, autoimmune|Hashimoto hypothyroidism|hypothyroidism, autoimmune thyroid autoantibodies, included|disease, Hashimoto|Hashimotos disease|Hashimoto's syndromes|Hashimotos syndrome|disease, Hashimoto's|Hashimoto's struma|thyroiditides, Hashimoto|thyroiditis, Hashimoto|thyroiditides, chronic lymphocytic|thyroiditis, chronic lymphocytic|Hashimoto's thyroiditis|autoimmune thyroiditis|lymphocytic thyroiditis|lymphocytic thyroiditides, chronic|thyroid autoantibodies|Hashimoto struma|syndrome, Hashimoto's|lymphocytic thyroiditis, chronic	http://purl.obolibrary.org/obo/MONDO_0007699	Orphanet:855|NCIT:C27191|http://identifiers.org/mesh/D050031|DOID:7188|UMLS:C0677607|https://omim.org/entry/140300|http://purl.bioontology.org/ontology/ICD10CM/E06.3	
MONDO:0005034	biolink:Disease	thyroid gland follicular carcinoma	A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy.	NCIT:C27380|DOID:3962|SCTID:255028004|ONCOTREE:THFO|HP:0006731|EFO:0000501|NCIT:C8054|ICDO:8331/3|ICDO:8330/3|MESH:D018263	mondo.json	follicular adenocarcinoma, well differentiated|well-differentiated follicular carcinoma|thyroid follicular carcinoma|follicular carcinoma of thyroid gland|thyroid follicle carcinoma|follicular carcinoma of the thyroid gland|thyroid gland follicular carcinoma|follicular carcinoma of the thyroid|follicular carcinoma of thyroid|follicular carcinoma|thyroid gland follicular cancer|follicular thyroid carcinoma|follicular thyroid gland carcinoma|follicular thyroid cancer|follicular cancer of the thyroid gland|carcinoma, follicular cell, malignant|follicular adenocarcinoma|follicular cancer of thyroid gland|follicular cancer of the thyroid|thyroid gland adenocarcinoma|follicular cancer of thyroid|follicular adenocarcinoma (morphologic abnormality)|follicular adenocarcinoma, well differentiated (morphologic abnormality)|well-differentiated follicular adenocarcinoma|carcinoma of thyroid follicle	http://purl.obolibrary.org/obo/MONDO_0005034	NCIT:C8054|http://identifiers.org/snomedct/255028004|http://identifiers.org/mesh/D018263|DOID:3962	
MONDO:0020653	biolink:Disease	vaginal adenocarcinoma	An adenocarcinoma arising from the vagina. Morphologic variants include the clear cell, endometrioid, mesonephric, and mucinous adenocarcinoma.	ONCOTREE:VA|NCIT:C7981	mondo.json	vagina adenocarcinoma|adenocarcinoma of vagina|adenocarcinoma of the vagina|vaginal adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0020653	NCIT:C7981	
MONDO:0005037	biolink:Disease	gastric intestinal type adenocarcinoma	An adenocarcinoma of the stomach arising on a background of intestinal metaplasia. Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma. Grossly, it tends to be nodular, polypoid or ulcerated.	UMLS:C0279633|NCIT:C9157|EFO:0000504|ONCOTREE:ISTAD	mondo.json	intestinal stomach adenocarcinoma|gastric intestinal-type adenocarcinoma|intestinal adenocarcinoma of the stomach|intestinal adenocarcinoma of stomach|gastric intestinal type adenocarcinoma|intestinal gastric adenocarcinoma|intestinal type stomach adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005037	UMLS:C0279633|NCIT:C9157	
MONDO:0007696	biolink:Disease	Emery-Nelson syndrome		OMIM:139750|GARD:0002593|Orphanet:1927|UMLS:C1841693|MESH:C535626	mondo.json	familial syndrome of short stature, deformities of the hands and feet, and unusual facies|hand and foot deformity-flat facies syndrome|hand and foot deformity with flat facies|hand and foot deformity - flat facies	http://purl.obolibrary.org/obo/MONDO_0007696	Orphanet:1927|http://identifiers.org/mesh/C535626|UMLS:C1841693|https://omim.org/entry/139750	ordo_malformation_syndrome
MONDO:0044689	biolink:Disease	recurrent idiopathic neuroretinitis		Orphanet:499103	mondo.json	RINR	http://purl.obolibrary.org/obo/MONDO_0044689	Orphanet:499103	ordo_disease
MONDO:0020652	biolink:Disease	immature teratoma of vulva		ONCOTREE:VIMT	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020652		
MONDO:0020651	biolink:Disease	mixed germ cell tumor of vulva		ONCOTREE:VMGCT	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020651		
MONDO:0005036	biolink:Disease	gastric adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the stomach	SCTID:408647009|ONCOTREE:STAD|NCIT:C4004|Orphanet:464463|EFO:0000503|UMLS:C0278701|DOID:3717	mondo.json	STAD|adenocarcinoma of the stomach|adenocarcinoma of stomach|gastric (stomach) adenocarcinoma|adenocarcinoma - stomach|stomach adenocarcinoma|gastric adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005036	UMLS:C0278701|Orphanet:464463|http://identifiers.org/snomedct/408647009|DOID:3717|NCIT:C4004	
MONDO:0044688	biolink:Disease	isolated optic neuritis		Orphanet:499096	mondo.json	ion	http://purl.obolibrary.org/obo/MONDO_0044688	Orphanet:499096	ordo_disease
MONDO:0007697	biolink:Disease	hand clasping pattern		OMIM:139800	mondo.json	hand clasping pattern	http://purl.obolibrary.org/obo/MONDO_0007697	https://omim.org/entry/139800	
HGNC:10978	biolink:NamedThing	SLC24A4			mondo.json		http://identifiers.org/hgnc/10978		
MONDO:0005031	biolink:Disease	fibromatosis	A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern.	GARD:0006439|EFO:0000497|NCIT:C3042|SCTID:723976005	mondo.json	fibromatosis	http://purl.obolibrary.org/obo/MONDO_0005031	http://identifiers.org/snomedct/723976005|NCIT:C3042	
MONDO:0007694	biolink:Disease	hairy nose tip		OMIM:139630|MESH:C535619|GARD:0008465	mondo.json	hairy nose tip|HNT	http://purl.obolibrary.org/obo/MONDO_0007694	http://identifiers.org/mesh/C535619|https://omim.org/entry/139630	gard_rare
MONDO:0044683	biolink:Disease	limbic encephalitis with neurexin-3 antibodies		Orphanet:498700	mondo.json		http://purl.obolibrary.org/obo/MONDO_0044683	Orphanet:498700	ordo_disease
MONDO:0020650	biolink:Disease	germ cell tumor of the vulva		ONCOTREE:VGCT	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020650		
MONDO:0007695	biolink:Disease	hairy palms and soles		MESH:C535620|OMIM:139650|GARD:0008461	mondo.json	circumscribed hairy Dysembryoplasia of palms|hairy palms and soles|hairy cutaneous malformations of palms and soles|thickened hair-bearing skin on the palms of both hands	http://purl.obolibrary.org/obo/MONDO_0007695	http://identifiers.org/mesh/C535620|https://omim.org/entry/139650	gard_rare
MONDO:0005030	biolink:Disease	fetal growth restriction	A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age.	EFO:0000495|ICD9:764.90|ICD9:764.92|ICD9:764.98|ICD9:764.99|ICD9:764.97|ICD9:764.96|MESH:D005317|ICD9:764.95|ICD9:764.94|ICD9:764.93|NCIT:C114875|ICD9:764.91|ICD9:764.9|SCTID:22033007	mondo.json	IUGR|intrauterine Growth retardation|fetus small for gestational Age|fetal small for gestational Age|intrauterine Growth restriction|fetal SGA|fetal Growth retardation|fetal growth retardation	http://purl.obolibrary.org/obo/MONDO_0005030	http://identifiers.org/snomedct/22033007|NCIT:C114875|http://identifiers.org/mesh/D005317	
MONDO:0044682	biolink:Disease	MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome		Orphanet:498693	mondo.json	MYBPC1-related autosomal recessive non-lethal AMC syndrome	http://purl.obolibrary.org/obo/MONDO_0044682	Orphanet:498693	ordo_disease
MONDO:0005033	biolink:Disease	ganglioneuroma	A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray.	DOID:4817|ICDO:9490/0|NIFSTD:birnlex_12617|MESH:D005729|NCIT:C3049|UMLS:C0017075|ICD9:215.9|HP:0003005|MedDRA:10017709|SCTID:116371000119107|EFO:0000500|ONCOTREE:GN|Orphanet:251992	mondo.json	ganglioneuroma, benign|ganglioneuroma|ganglioneuroma (Schwannian Stroma-dominant)|ganglioneuroma (disease)|neural Crest tumor, benign|GN	http://purl.obolibrary.org/obo/MONDO_0005033	DOID:4817|UMLS:C0017075|Orphanet:251992|NCIT:C3049|http://identifiers.org/snomedct/116371000119107	ordo_disease
MONDO:0044685	biolink:Disease	autoimmune/inflammatory optic neuropathy		Orphanet:499047	mondo.json		http://purl.obolibrary.org/obo/MONDO_0044685	Orphanet:499047	disease_grouping|ordo_group_of_disorders
MONDO:0007692	biolink:Disease	obsolete hairy ears		OMIM:139500|MESH:C562484|SCTID:89000008	mondo.json	hypertrichosis pinnae auris|hairy ears	http://purl.obolibrary.org/obo/MONDO_0007692	https://omim.org/entry/139500|http://identifiers.org/mesh/C562484|http://identifiers.org/snomedct/89000008	
MONDO:0005032	biolink:Disease	follicular thyroid adenoma	A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics.	HP:0000854|DOID:6204|DOID:2891|UMLS:C0205647|NCIT:C3502|ICDO:8330/0|SCTID:255033000|SCTID:255034006|UMLS:C0151468|EFO:0000499	mondo.json	follicular adenoma of the thyroid gland|adenoma of thyroid gland|thyroid adenoma (disease)|adenoma, follicular cell, benign|thyroid follicular adenoma|thyroid adenoma|follicular adenoma of thyroid gland|thyroid gland follicular adenoma|follicular adenoma of the thyroid|follicular thyroid adenoma|follicular adenoma of thyroid|follicular adenoma|thyroid follicle adenoma|adenoma of the thyroid gland|follicular adenoma (morphologic abnormality)|adenoma of the thyroid|thyroid gland adenoma|adenoma of thyroid	http://purl.obolibrary.org/obo/MONDO_0005032	http://identifiers.org/snomedct/255033000|UMLS:C0205647|DOID:2891|NCIT:C3502|UMLS:C0151468|DOID:6204|http://identifiers.org/snomedct/255034006	
MONDO:0007693	biolink:Disease	hypertrichosis cubiti-short stature syndrome	Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.	GARD:0000143|Orphanet:2220|MESH:C535618|MedDRA:10068636|UMLS:C1841696|OMIM:139600	mondo.json	hypertrichosis cubiti|hairy elbows|hairy elbows syndrome|MacDermot-Patton-Williams syndrome	http://purl.obolibrary.org/obo/MONDO_0007693	http://identifiers.org/mesh/C535618|UMLS:C1841696|https://omim.org/entry/139600|Orphanet:2220	ordo_malformation_syndrome|gard_rare
MONDO:0044684	biolink:Disease	obsolete tuberculous meningitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0044684		
MONDO:0007690	biolink:Disease	aromatase excess syndrome	Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.	ICD9:259.8|Orphanet:178345|GARD:12949|GARD:0012494|SCTID:709075008|MESH:C000591739|OMIM:139300|DOID:0090122|UMLS:C1970109	mondo.json	hereditary prepubertal gynecomastia|aromatase excess syndrome|aromatase activity, increased|increased aromatase activity|gynecomastia, hereditary|familial hyperestrogenism|AEXS|gynecomastia, familial, due to increased aromatase activity	http://purl.obolibrary.org/obo/MONDO_0007690	https://omim.org/entry/139300|http://identifiers.org/mesh/C000591739|UMLS:C1970109|Orphanet:178345|http://identifiers.org/snomedct/709075008|DOID:0090122	gard_rare|ordo_disease
HGNC:10982	biolink:NamedThing	SLC25A12			mondo.json		http://identifiers.org/hgnc/10982		
MONDO:0007691	biolink:Disease	Guillain-Barre syndrome, familial	A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy.	SCTID:40956001|GARD:0006102|OMIM:139393|Orphanet:2932|SCTID:716723000|MedDRA:10057645	mondo.json	AIDP|chronic inflammatory demyelinating polyneuropathy|GBS|polyneuropathy, inflammatory demyelinating, chronic|polyneuropathy, inflammatory demyelinating, acute|neuropathy, inflammatory demyelinating|chronic inflammatory demyelinating polyradiculoneuropathy|Guillain-Barre syndrome, familial	http://purl.obolibrary.org/obo/MONDO_0007691	http://identifiers.org/snomedct/716723000|https://omim.org/entry/139393	ordo_disease
NCBITaxon:140564	biolink:OrganismalEntity	Ornithodoros parkeri		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_140564		
HGNC:10983	biolink:NamedThing	SLC25A13			mondo.json		http://identifiers.org/hgnc/10983		
MONDO:0020649	biolink:Disease	warty carcinoma of the penis	A squamous cell carcinoma that arises from the penis. It is characterized by a papillary growth pattern, hyperkeratosis and parakeratosis. Koilocytotic atypia is present. Human papillomavirus types 16 and 6 have been identified in some cases.	NCIT:C6981|ONCOTREE:WPSCC	mondo.json	squamous cell carcinoma of the penis, warty type|condylomatous carcinoma of the penis|condylomatous carcinoma of penis|squamous cell carcinoma of penis, warty type|warty penile squamous cell carcinoma|warty carcinoma of the penis|warty carcinoma of penis|condylomatous squamous cell carcinoma of the penis|condylomatous squamous cell carcinoma of penis|squamous cell carcinoma of the penis, condylomatous type|squamous cell carcinoma of penis, condylomatous type|condylomatous penile squamous cell carcinoma|warty squamous cell carcinoma of the penis|warty squamous cell carcinoma of penis	http://purl.obolibrary.org/obo/MONDO_0020649	NCIT:C6981	
MONDO:0020648	biolink:Disease	rubella encephalitis		SCTID:192689006	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020648	http://identifiers.org/snomedct/192689006	
MONDO:0019669	biolink:Disease	hypochondrogenesis		MESH:C563007|DOID:0080044|Orphanet:93297|OMIM:200610	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019669	DOID:0080044|http://identifiers.org/mesh/C563007|Orphanet:93297	ordo_clinical_subtype
MONDO:0020647	biolink:Disease	microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		OMIM:618142	mondo.json	microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome|MFRG	http://purl.obolibrary.org/obo/MONDO_0020647	https://omim.org/entry/618142	
MONDO:0017006	biolink:Disease	obsolete X and Y chromosomal anomaly		Orphanet:263749	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017006	Orphanet:263749	disease_grouping|ordo_group_of_disorders
MONDO:0017007	biolink:Disease	partial deletion of the long arm of chromosome X		Orphanet:263756	mondo.json	partial monosomy of chromosome Xq|partial deletion of chromosome Xq|partial deletion of the long arm of chromosome type X|partial monosomy of the long arm of chromosome X	http://purl.obolibrary.org/obo/MONDO_0017007	Orphanet:263756	disease_grouping|ordo_group_of_disorders
MONDO:0019668	biolink:Disease	adenoma of pancreas		ICD10CM:D13.6|UMLS:C4076724|GARD:0004204|Orphanet:93292|UMLS:C1142432|SCTID:208061000119101|MESH:C538110|MedDRA:10058902	mondo.json	pancreatic adenoma|adenoma of the pancreas	http://purl.obolibrary.org/obo/MONDO_0019668	UMLS:C4076724|http://identifiers.org/mesh/C538110|http://identifiers.org/snomedct/208061000119101|UMLS:C1142432|Orphanet:93292	ordo_disease
MONDO:0020646	biolink:Disease	ocular adnexal lymphoma	A non-Hodgkin lymphoma arising from the conjunctiva, lacrimal gland, lacrimal drainage apparatus, eyelids, or other orbital tissues around the eye. The vast majority of cases are extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue, however, other histologic types of lymphomas can originate from ocular adnexal tissues, including rare cases of NK/T-cell lymphomas of nasal type.	UMLS:C2981712|NCIT:C88145	mondo.json	ocular adnexal lymphoma|OAL|non-Hodgkin lymphoma of ocular adnexa|ocular adnexa non-Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0020646	UMLS:C2981712|NCIT:C88145	
MONDO:0020645	biolink:Disease	autosomal dominant osteopetrosis	Autosomal dominant form of osteopetrosis (disease).	UMLS:C4272579|OMIMPS:607634	mondo.json	OPTA|osteopetrosis (disease), autosomal dominant|autosomal dominant osteopetrosis (disease)	http://purl.obolibrary.org/obo/MONDO_0020645	https://omim.org/phenotypicSeries/PS607634|UMLS:C4272579	
MONDO:0017008	biolink:Disease	partial duplication of chromosome X		Orphanet:263768	mondo.json	partial trisomy of chromosome X|partial duplication of chromosome type X	http://purl.obolibrary.org/obo/MONDO_0017008	Orphanet:263768	disease_grouping|ordo_group_of_disorders
HGNC:10985	biolink:NamedThing	SLC25A15			mondo.json		http://identifiers.org/hgnc/10985		
MONDO:0017009	biolink:Disease	partial duplication of the short arm of chromosome X		Orphanet:263775|GARD:0012421	mondo.json	partial duplication of chromosome Xp|partial trisomy of the short arm of chromosome X|partial duplication of the short arm of chromosome type X|partial trisomy of chromosome Xp	http://purl.obolibrary.org/obo/MONDO_0017009	Orphanet:263775	disease_grouping|ordo_group_of_disorders
MONDO:0020644	biolink:Disease	lung non-Hodgkin lymphoma	A rare non-Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. Representative examples include bronchial mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma.	UMLS:C1334453|NCIT:C5684	mondo.json	lung non-Hodgkin lymphoma|primary lung non-Hodgkin's lymphoma|lung non-Hodgkin's lymphoma|non-Hodgkin lymphoma of lung	http://purl.obolibrary.org/obo/MONDO_0020644	NCIT:C5684|UMLS:C1334453	
MONDO:0030046	biolink:Disease	neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity		OMIM:618890	mondo.json	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY|neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity|NEDBASS	http://purl.obolibrary.org/obo/MONDO_0030046	https://omim.org/entry/618890	
MONDO:0019665	biolink:Disease	monostotic fibrous dysplasia	Fibrous dysplasia of bone involving only one bone.	HP:0010736|MESH:D005358|ICD9:733.29|Orphanet:93277|SCTID:89859004|UMLS:C0016064|ICD10CM:Q78.1|NCIT:C53971	mondo.json	monostotic fibrous dysplasia|monostotic fibrous dysplasia (disease)|Jaffe-Lichtenstein disease|monostotic fibrous dysplasia of bone	http://purl.obolibrary.org/obo/MONDO_0019665	NCIT:C53971|http://identifiers.org/mesh/D005358|http://identifiers.org/snomedct/89859004|UMLS:C0016064|Orphanet:93277	ordo_clinical_subtype
MONDO:0017002	biolink:Disease	obsolete polysomy of X chromosome		Orphanet:263723	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017002	Orphanet:263723	disease_grouping|ordo_group_of_disorders
HGNC:19316	biolink:NamedThing	P3H1			mondo.json		http://identifiers.org/hgnc/19316		
MONDO:0030045	biolink:Disease	Liberfarb syndrome	A progressive disorder involving connective tissue, bone, retina, ear, and brain, characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature.	OMIM:618889|Orphanet:589442	mondo.json	Liberfarb syndrome|spondyloepimetaphyseal dysplasia, Liberfarb Type|LIBF|short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome	http://purl.obolibrary.org/obo/MONDO_0030045	https://omim.org/entry/618889|Orphanet:589442	ordo_disorder
MONDO:0017003	biolink:Disease	partial deletion of chromosome X		Orphanet:263726	mondo.json	partial deletion of chromosome type X|partial monosomy of chromosome X	http://purl.obolibrary.org/obo/MONDO_0017003	Orphanet:263726	disease_grouping|ordo_group_of_disorders
MONDO:0019664	biolink:Disease	obsolete short rib-polydactyly syndrome, Verma-Naumoff type			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019664		
HGNC:19317	biolink:NamedThing	P3H2			mondo.json		http://identifiers.org/hgnc/19317		
MONDO:0017004	biolink:Disease	partial monosomy of the short arm of chromosome X		Orphanet:263731	mondo.json	partial deletion of chromosome Xp|partial monosomy of the short arm of chromosome type X|partial monosomy of chromosome Xp|partial deletion of the short arm of chromosome X	http://purl.obolibrary.org/obo/MONDO_0017004	Orphanet:263731	disease_grouping|ordo_group_of_disorders
MONDO:0019667	biolink:Disease	spondyloepiphyseal dysplasia tarda	Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.	SCTID:51952004|ICD9:756.9|DOID:0080362|Orphanet:93284	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019667	DOID:0080362|http://identifiers.org/snomedct/51952004|Orphanet:93284	ordo_disease
MONDO:0030048	biolink:Disease	harderoporphyria		MESH:C562816|OMIM:618892	mondo.json	HARPO|HARDEROPORPHYRIA|harderoporphyria	http://purl.obolibrary.org/obo/MONDO_0030048	https://omim.org/entry/618892|http://identifiers.org/mesh/C562816	
MONDO:0017005	biolink:Disease	obsolete Y chromosome number anomaly		Orphanet:263746	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017005	Orphanet:263746	disease_grouping|ordo_group_of_disorders
MONDO:0019666	biolink:Disease	spondyloepimetaphyseal dysplasia, PAPSS2 type	A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.	Orphanet:93282|OMIM:612847|SCTID:719172003|DOID:0050812	mondo.json	spondyloepimetaphyseal dysplasia Pakistani type|spondylodysplasia and premature pubarche|brachyolmia 4 with mild epiphyseal and metaphyseal changes|spondyloepimetaphyseal dysplasia, Pakistani type|SEMD, Pakistani type|BCYM4|brachyolmia type 4 with mild epiphyseal and metaphyseal changes	http://purl.obolibrary.org/obo/MONDO_0019666	http://identifiers.org/snomedct/719172003|DOID:0050812|Orphanet:93282|https://omim.org/entry/612847	ordo_disease
MONDO:0030047	biolink:Disease	microcephaly, developmental delay, and brittle hair syndrome		OMIM:618891	mondo.json	MDBH|microcephaly, developmental delay, and brittle hair syndrome|MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME	http://purl.obolibrary.org/obo/MONDO_0030047	https://omim.org/entry/618891	
MONDO:0030042	biolink:Disease	proteinuria, chronic benign		OMIM:618884	mondo.json	proteinuria, chronic benign|PROCHOB|PROTEINURIA, CHRONIC BENIGN	http://purl.obolibrary.org/obo/MONDO_0030042	https://omim.org/entry/618884	
MONDO:0019661	biolink:Disease	Pfeiffer syndrome type 3	Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.	UMLS:CN206535|Orphanet:93260	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019661	UMLS:CN206535|Orphanet:93260	ordo_clinical_subtype
HP:0002087	biolink:PhenotypicFeature	Abnormality of the upper respiratory tract	An abnormality of the upper respiratory tract.	UMLS:C4025727	mondo.json	Abnormality of the upper respiratory tract|Upper respiratory tract issues	http://purl.obolibrary.org/obo/HP_0002087		
FOODON:03411081	biolink:NamedThing	penaeid shrimp family	*Penaeidae* is a family of marine crustacean in the suborder *Dendrobranchiata*, which are often referred to as penaeid shrimp or penaeid prawn. It contains many species of economic importance, such as the tiger prawn, whiteleg shrimp, Atlantic white shrimp and Indian prawn. Many prawns are the subject of commercial fishery, and farming, both in marine settings, and in freshwater farms. [https://en.wikipedia.org/wiki/Penaeidae]		mondo.json	Dendrobranchiata Bate, 1888|Natantia	http://purl.obolibrary.org/obo/FOODON_03411081		
HP:0002088	biolink:PhenotypicFeature	Abnormal lung morphology	Any structural anomaly of the lung.	SNOMEDCT_US:19829001|MSH:D008171|UMLS:C4021760|UMLS:C0024115	mondo.json	Abnormally shaped lung|Abnormality of lung structure|Abnormality of the lungs|Unusal lung shape|Lung disease	http://purl.obolibrary.org/obo/HP_0002088		
MONDO:0019660	biolink:Disease	Pfeiffer syndrome type 2	Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.	UMLS:CN206534|Orphanet:93259	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019660	UMLS:CN206534|Orphanet:93259	ordo_clinical_subtype
MONDO:0017000	biolink:Disease	obsolete X chromosome number anomaly with female phenotype		Orphanet:263717	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017000	Orphanet:263717	disease_grouping|ordo_group_of_disorders
MONDO:0030044	biolink:Disease	pseudo-TORCH syndrome 3		OMIM:618886	mondo.json	PTORCH3|PSEUDO-TORCH SYNDROME 3|pseudo-torch syndrome 3	http://purl.obolibrary.org/obo/MONDO_0030044	https://omim.org/entry/618886	
MONDO:0019663	biolink:Disease	obsolete short rib-polydactyly syndrome, Saldino-Noonan type			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019663		
MONDO:0019662	biolink:Disease	short rib-polydactyly syndrome, Majewski type		GARD:0004833|SCTID:72922008|ICD9:756.3|Orphanet:93269	mondo.json	SRPS type 2|polydactyly with neonatal chondrodystrophy type 2|short rib-polydactyly syndrome type 2|short rib-polydactyly syndrome Majewski type	http://purl.obolibrary.org/obo/MONDO_0019662	http://identifiers.org/snomedct/72922008|Orphanet:93269	ordo_malformation_syndrome
MONDO:0017001	biolink:Disease	obsolete X chromosome number anomaly with male phenotype		Orphanet:263720	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017001	Orphanet:263720	disease_grouping|ordo_group_of_disorders
MONDO:0030043	biolink:Disease	congenital disorder of glycosylation, type iit		OMIM:618885	mondo.json	CDG2T|CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt|Cdg Iit	http://purl.obolibrary.org/obo/MONDO_0030043	https://omim.org/entry/618885	
HP:0002086	biolink:PhenotypicFeature	Abnormality of the respiratory system	An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.	UMLS:C4018871	mondo.json	Respiratory abnormality	http://purl.obolibrary.org/obo/HP_0002086		
MONDO:0032629	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 25		OMIM:618246	mondo.json	MC1DN25|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25	http://purl.obolibrary.org/obo/MONDO_0032629	https://omim.org/entry/618246	
MONDO:0017071	biolink:Disease	thoracolumbosacral spina bifida cystica		Orphanet:268752	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017071	Orphanet:268752	ordo_clinical_subtype
HP:0100326	biolink:PhenotypicFeature	Immunologic hypersensitivity	Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens.	UMLS:C0237653	mondo.json		http://purl.obolibrary.org/obo/HP_0100326		
MONDO:0017072	biolink:Disease	lumbosacral spina bifida cystica		Orphanet:268758	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017072	Orphanet:268758	ordo_clinical_subtype
FOODON:03411017	biolink:NamedThing	oil-producing plant			mondo.json		http://purl.obolibrary.org/obo/FOODON_03411017		
MONDO:0017073	biolink:Disease	cervical spina bifida cystica		Orphanet:268762	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017073	Orphanet:268762	ordo_clinical_subtype
MONDO:0032627	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 23		OMIM:618244	mondo.json	MC1DN23|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23	http://purl.obolibrary.org/obo/MONDO_0032627	https://omim.org/entry/618244	
HP:0100324	biolink:PhenotypicFeature	Scleroderma	A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin.	UMLS:C1274865|SNOMEDCT_US:89155008|UMLS:C0011644|SNOMEDCT_US:403524003|MSH:D012594	mondo.json	Pseudoscleroderma|Progressive systemic scleroderma	http://purl.obolibrary.org/obo/HP_0100324		
MONDO:0017074	biolink:Disease	cervicothoracic spina bifida cystica		Orphanet:268766	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017074	Orphanet:268766	ordo_clinical_subtype
MONDO:0032628	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 24		OMIM:618245	mondo.json	MC1DN24|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24	http://purl.obolibrary.org/obo/MONDO_0032628	https://omim.org/entry/618245	
MONDO:0032625	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 21		OMIM:618242	mondo.json	MC1DN21|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	http://purl.obolibrary.org/obo/MONDO_0032625	https://omim.org/entry/618242	
FOODON:03411013	biolink:NamedThing	plant used for producing extract or concentrate			mondo.json		http://purl.obolibrary.org/obo/FOODON_03411013		
MONDO:0032626	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 22		OMIM:618243	mondo.json	MC1DN22|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22	http://purl.obolibrary.org/obo/MONDO_0032626	https://omim.org/entry/618243	
MONDO:0032623	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 18		OMIM:618240	mondo.json	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18|MC1DN18	http://purl.obolibrary.org/obo/MONDO_0032623	https://omim.org/entry/618240	
MONDO:0032624	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 19		OMIM:618241	mondo.json	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19|MC1DN19	http://purl.obolibrary.org/obo/MONDO_0032624	https://omim.org/entry/618241	
MONDO:0017070	biolink:Disease	total spina bifida cystica		Orphanet:268748	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017070	Orphanet:268748	ordo_clinical_subtype
HGNC:22932	biolink:NamedThing	GMPPB			mondo.json		http://identifiers.org/hgnc/22932		
MONDO:0005089	biolink:Disease	sarcoma	A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma.	ICD9:171.8|ICD9:171.7|ICD9:171|ICD9:171.6|ICD9:171.5|ICD9:171.4|ICD9:171.3|ICD9:171.2|NCIT:C9118|DOID:1115|ICDO:8800/3|ICD9:171.0|SCTID:424413001|GARD:0012018|MESH:D012509|EFO:0000691|ICD9:171.9	mondo.json	sarcoma of soft tissue and bone|sarcoma of the soft tissue and bone|tumor of soft tissue and skeleton|sarcoma, malignant|sarcoma|mesenchymal tumor, malignant	http://purl.obolibrary.org/obo/MONDO_0005089	NCIT:C9118|http://identifiers.org/mesh/D012509|DOID:1115|http://identifiers.org/snomedct/424413001	
HGNC:10947	biolink:NamedThing	SLC20A2			mondo.json		http://identifiers.org/hgnc/10947		
MONDO:0005086	biolink:Disease	renal cell carcinoma	A carcinoma that arises from glandular epithelial cells of the kidney	SCTID:702391001|MedDRA:10067946|HP:0005584|GARD:0013215|MESH:D002292|Orphanet:217071|ICD9:189.0|DOID:4450|EFO:0000681|ONCOTREE:RCC|NCIT:C9385	mondo.json	renal cell adenocarcinoma|renal cell carcinoma|renal cell carcinoma (disease)|hypernephroma|kidney adenocarcinoma|RCC	http://purl.obolibrary.org/obo/MONDO_0005086	http://identifiers.org/snomedct/702391001|http://identifiers.org/mesh/D002292|DOID:4450|Orphanet:217071	gard_rare|disease_grouping|ordo_group_of_disorders
MONDO:0005085	biolink:Disease	pterygium	A wedge-shaped fibrovascular lesion arising from the bulbar conjunctiva and extending to the cornea. It is caused by chronic exposure to solar ultraviolet radiation, heat, and dust. It may cause severe vision loss. Studies have linked pterygium to neoplastic proliferation and suggest that it may be a stem cell disorder.	DOID:0002116|EFO:0000678|SCTID:77489003|UMLS:C0033999|ICD9:372.40|ICD9:372.4|ICD10CM:H11.0|MESH:D011625|NCIT:C133744	mondo.json	surfer's eye|pterygium of conjunctiva and cornea	http://purl.obolibrary.org/obo/MONDO_0005085	http://purl.bioontology.org/ontology/ICD10CM/H11.0|UMLS:C0033999|NCIT:C133744|http://identifiers.org/mesh/D011625|DOID:0002116|http://identifiers.org/snomedct/77489003	
MONDO:0005088	biolink:Disease	obsolete rheumatoid arthritis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005088		
MONDO:0005087	biolink:Disease	respiratory system disorder	A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma.	ICD9:503|ICD9:508.9|SCTID:50043002|ICD9:519|ICD9:V47.2|ICD9:508.8|ICD10CM:J00-J99|ICD9:460-519.99|ICD9:517.8|ICD9:516.9|NCIT:C26871|ICD9:516.8|ICD9:519.3|ICD9:519.8|ICD9:519.1|ICD9:508.1|ICD9:519.9|ICD9:500-508.99|EFO:0000684|ICD9:V12.60|ICD9:508|MESH:D012140|ICD9:517|ICD9:510-519.99|ICD9:516|DOID:1579	mondo.json	disease of respiratory system|respiratory system disorder|disorder of respiratory system|disease or disorder of respiratory system|respiratory system disease|respiratory disorder|respiratory disease|respiratory system disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005087	http://purl.bioontology.org/ontology/ICD10CM/J00-J99|NCIT:C26871|http://identifiers.org/mesh/D012140|http://identifiers.org/snomedct/50043002|DOID:1579	
MONDO:0005082	biolink:Disease	prostate adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the prostate gland	EFO:0000673|ONCOTREE:PRAD|SCTID:399490008|UMLS:C0007112|NCIT:C2919|DOID:2526	mondo.json	adenocarcinoma of prostate|prostate adenocarcinoma|adenocarcinoma of the prostate|prad|prostate gland adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005082	http://identifiers.org/snomedct/399490008|NCIT:C2919|UMLS:C0007112|DOID:2526	
MONDO:0005081	biolink:Disease	preeclampsia	Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia.	EFO:0000668|OMIM:614592|ICD9:642.40|DOID:10591|SCTID:398254007|MESH:D011225|Orphanet:275555|MedDRA:10036485|ICD9:642.44|NCIT:C85021|ICD9:642.43|ICD9:642.42|OMIMPS:189800|ICD9:642.41	mondo.json	pre-eclampsia|pregnancy toxemia|preeclampsia/eclampsia|pregnancy associated hypertension|proteinuric hypertension of pregnancy|pre-eclamptic toxaemia|gestational hypertension|hypertension induced by pregnancy|preeclampsia|toxaemia of pregnancy	http://purl.obolibrary.org/obo/MONDO_0005081	https://omim.org/phenotypicSeries/PS189800|http://identifiers.org/mesh/D011225|http://identifiers.org/snomedct/398254007|NCIT:C85021|Orphanet:275555|DOID:10591	ordo_disease
MONDO:0005084	biolink:Disease	mental disorder	A disease that has its basis in the disruption of mental process.	MESH:D001523|ICD9:290-299.99|NCIT:C2893|DOID:150|SCTID:74732009|EFO:0000677|NIFSTD:birnlex_12669|ICD9:V11.9|UMLS:CN240636|ICD9:298.8	mondo.json	mental process disease|disorder of mental process|mental or behavioural disorder	http://purl.obolibrary.org/obo/MONDO_0005084	http://identifiers.org/snomedct/74732009|UMLS:CN240636	
MONDO:0005083	biolink:Disease	psoriasis	An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp.	NCIT:C3346|MESH:D011565|ICD9:696.8|UMLS:C0033860|ICD9:696|DOID:8893|EFO:0000676|ICD9:696.1|GARD:0010262|OMIMPS:177900|ICD10CM:L40|ICD9:696.5|SCTID:9014002	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005083	UMLS:C0033860|NCIT:C3346|DOID:8893|https://omim.org/phenotypicSeries/PS177900|http://identifiers.org/mesh/D011565|http://purl.bioontology.org/ontology/ICD10CM/L40|http://identifiers.org/snomedct/9014002	
NCBITaxon:32525	biolink:OrganismalEntity	Theria <mammals>		GC_ID:1	mondo.json	Theria	http://purl.obolibrary.org/obo/NCBITaxon_32525		
MONDO:0005080	biolink:Disease	portal hypertension	Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly.	UMLS:C0020541|SCTID:34742003|ICD10CM:K76.6|DOID:10762|EFO:0000666|MESH:D006975|NCIT:C3119|GARD:0008229|ICD9:572.3	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005080	http://identifiers.org/snomedct/34742003|http://purl.bioontology.org/ontology/ICD10CM/K76.6|http://identifiers.org/mesh/D006975|NCIT:C3119|DOID:10762|UMLS:C0020541	
MONDO:0029051	biolink:Disease	obsolete autosomal recessive nail dysplasia	OBSOLETE. Autosomal recessive nail dysplasia is a rare, isolated nail anomaly characterized by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported. [Orphanet:280654]	OMIM:161050|OMIM:614157|ICD10CM:Q84.6|Orphanet:280654	mondo.json		http://purl.obolibrary.org/obo/MONDO_0029051	Orphanet:280654	
MONDO:0017079	biolink:Disease	meningoencephalocele	A congenital abnormality in which the meninges protrude through a defect in the cranium.	GARD:0003473|UMLS:C0009694|SCTID:52330001|ICD10CM:Q01.2|ICD10CM:Q01.0|Orphanet:268820|NCIT:C124517	mondo.json	meningoencephalocele|brain meninx cephalocele (disease)|cranial meningocele|encephalomeningocele|cephalocele (disease) of brain meninx	http://purl.obolibrary.org/obo/MONDO_0017079	http://identifiers.org/snomedct/52330001|NCIT:C124517|UMLS:C0009694|Orphanet:268820	gard_rare|ordo_morphological_anomaly
MONDO:0032632	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 28		OMIM:618249	mondo.json	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28|MC1DN28	http://purl.obolibrary.org/obo/MONDO_0032632	https://omim.org/entry/618249	
HGNC:22923	biolink:NamedThing	GMPPA			mondo.json		http://identifiers.org/hgnc/22923		
MONDO:0032633	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 29		OMIM:618250	mondo.json	MC1DN29|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29	http://purl.obolibrary.org/obo/MONDO_0032633	https://omim.org/entry/618250	
MONDO:0032630	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 26		OMIM:618247	mondo.json	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26|MC1DN26	http://purl.obolibrary.org/obo/MONDO_0032630	https://omim.org/entry/618247	
NCBITaxon:32524	biolink:OrganismalEntity	Amniota		GC_ID:1	mondo.json	amniotes	http://purl.obolibrary.org/obo/NCBITaxon_32524		
MONDO:0032631	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 27		OMIM:618248	mondo.json	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27|MC1DN27	http://purl.obolibrary.org/obo/MONDO_0032631	https://omim.org/entry/618248	
NCBITaxon:32523	biolink:OrganismalEntity	Tetrapoda		GC_ID:1	mondo.json	tetrapods	http://purl.obolibrary.org/obo/NCBITaxon_32523		
MONDO:0017075	biolink:Disease	upper thoracic spina bifida cystica		Orphanet:268770	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017075	Orphanet:268770	ordo_clinical_subtype
MONDO:0017076	biolink:Disease	posterior meningocele	Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region.	UMLS:CN202439|Orphanet:268810	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017076	UMLS:CN202439|Orphanet:268810	ordo_morphological_anomaly
GO:0032594	biolink:NamedThing	protein transport within lipid bilayer	The directed movement of a protein from one location to another within a lipid bilayer.		mondo.json	protein translocation within membrane|receptor translocation within membrane|receptor transport within lipid bilayer	http://purl.obolibrary.org/obo/GO_0032594		
MONDO:0017077	biolink:Disease	myelocystocele		SCTID:203994003|Orphanet:268813	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017077	http://identifiers.org/snomedct/203994003|Orphanet:268813	ordo_morphological_anomaly
MONDO:0017078	biolink:Disease	cephalocele	A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used.	Orphanet:268817|HP:0011815|SCTID:55999004|ICD9:742.0|NCIT:C84687	mondo.json	cranium bifidum|cephalocele|encephalocele|cephalocele (disease)	http://purl.obolibrary.org/obo/MONDO_0017078	NCIT:C84687|http://identifiers.org/snomedct/55999004|Orphanet:268817	disease_grouping|ordo_group_of_disorders
GO:0032592	biolink:NamedThing	integral component of mitochondrial membrane	The component of the mitochondrial membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.		mondo.json	integral to mitochondrial membrane	http://purl.obolibrary.org/obo/GO_0032592		
MONDO:0017060	biolink:Disease	open iniencephaly		SCTID:203928008|Orphanet:268363	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017060	Orphanet:268363|http://identifiers.org/snomedct/203928008	ordo_clinical_subtype
MONDO:0017061	biolink:Disease	closed iniencephaly		Orphanet:268366|SCTID:203927003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017061	Orphanet:268366|http://identifiers.org/snomedct/203927003	ordo_clinical_subtype
MONDO:0017062	biolink:Disease	spina bifida aperta		Orphanet:268369|UMLS:CN202421|SCTID:58557008	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017062	http://identifiers.org/snomedct/58557008|UMLS:CN202421|Orphanet:268369	ordo_morphological_anomaly
MONDO:0032639	biolink:Disease	hearing loss, autosomal recessive 112		DOID:0111637|OMIM:618257	mondo.json	deafness, autosomal recessive 112|DFNB112	http://purl.obolibrary.org/obo/MONDO_0032639	DOID:0111637|https://omim.org/entry/618257	
MONDO:0017063	biolink:Disease	total spina bifida aperta		UMLS:CN202422|Orphanet:268377	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017063	UMLS:CN202422|Orphanet:268377	ordo_clinical_subtype
MONDO:0032636	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 33		OMIM:618253	mondo.json	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33|MC1DN33	http://purl.obolibrary.org/obo/MONDO_0032636	https://omim.org/entry/618253	
MONDO:0032637	biolink:Disease	ciliary dyskinesia, primary, 39		OMIM:618254	mondo.json	Ciliary Dyskinesia, Primary, 39, With or Without Situs Inversus|CILIARY DYSKINESIA, PRIMARY, 39|CILD39	http://purl.obolibrary.org/obo/MONDO_0032637	https://omim.org/entry/618254	
FOODON:03411021	biolink:NamedThing	fish or lower water animal	An aquatic animal is an animal, either vertebrate or invertebrate, which lives in the water for most or all of its lifetime.		mondo.json		http://purl.obolibrary.org/obo/FOODON_03411021		
CHEBI:176838	biolink:ChemicalSubstance	vitamin B2	Any member of a group of vitamers that belong to the chemical structural class called flavins that exhibit biological activity against vitamin B2 deficiency. Symptoms associated with vitamin B2 deficiency include glossitis, seborrhea, angular stomaitis, cheilosis and photophobia. The vitamers include riboflavin and its phosphate derivatives (and includes their salt, ionised and hydrate forms).		mondo.json	vitamin B2|vitamins B2|vitamins B2 vitamers|vitamins B2 vitamer|vitamin B-2	http://purl.obolibrary.org/obo/CHEBI_176838		
MONDO:0032634	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 31		OMIM:618251	mondo.json	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31|MC1DN31	http://purl.obolibrary.org/obo/MONDO_0032634	https://omim.org/entry/618251	
MONDO:0032635	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 32		OMIM:618252	mondo.json	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32|MC1DN32	http://purl.obolibrary.org/obo/MONDO_0032635	https://omim.org/entry/618252	
MONDO:0044621	biolink:Disease	16p12.1p12.3 triplication syndrome	16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.	Orphanet:485405	mondo.json	tetrasomy 16p12.1-p12.3|trip(16)(p12.1p12.3)|tetrasomy 16p12.1p12.3	http://purl.obolibrary.org/obo/MONDO_0044621	Orphanet:485405	ordo_malformation_syndrome
HGNC:10955	biolink:NamedThing	SLCO2A1			mondo.json		http://identifiers.org/hgnc/10955		
MONDO:0044622	biolink:Disease	EMILIN-1-related connective tissue disease		Orphanet:485418	mondo.json		http://purl.obolibrary.org/obo/MONDO_0044622	Orphanet:485418	ordo_disease
MONDO:0005097	biolink:Disease	squamous cell lung carcinoma	A carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma.	NCIT:C3493|ONCOTREE:LUSC|ICD9:162.9|SCTID:254634000|DOID:3907|UMLS:C0149782|EFO:0000708	mondo.json	squamous cell lung carcinoma|squamous cell lung cancer|epidermoid cell carcinoma of the lung|squamous cell carcinoma of the lung|lung squamous cell carcinoma|epidermoid cell lung carcinoma|epidermoid cell carcinoma of lung|squamous cell carcinoma of lung	http://purl.obolibrary.org/obo/MONDO_0005097	UMLS:C0149782|NCIT:C3493|http://identifiers.org/snomedct/254634000|DOID:3907	
MONDO:0005096	biolink:Disease	squamous cell carcinoma	A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma.	NCIT:C2929|MESH:D002294|ICDO:8070/3|GARD:0001091|UMLS:C0007137|EFO:0000707|DOID:1749|SCTID:402815007	mondo.json	epidermoid carcinoma|squamous cell carcinoma|malignant epidermoid cell neoplasm|squamous cell epithelioma|carcinoma, squamous cell, malignant|squamous cell carcinoma NOS (morphologic abnormality)|malignant squamous cell tumor|squamous cell carcinoma (morphologic abnormality)|squamous carcinoma|malignant epidermoid cell tumor|malignant squamous cell neoplasm|squamous cell cancer|epidermoid cell cancer	http://purl.obolibrary.org/obo/MONDO_0005096	http://identifiers.org/mesh/D002294|http://identifiers.org/snomedct/402815007|NCIT:C2929|UMLS:C0007137|DOID:1749	
MONDO:0005099	biolink:Disease	subarachnoid hemorrhage	Intracranial hemorrhage into the subarachnoid space.	EFO:0000713|SCTID:21454007|UMLS:C0038525|ICD9:430|MESH:D013345|HP:0002138	mondo.json	subarachnoid hemorrhage|subarachnoid hemorrhage (disease)	http://purl.obolibrary.org/obo/MONDO_0005099	http://identifiers.org/mesh/D013345|UMLS:C0038525|http://identifiers.org/snomedct/21454007	
HGNC:10959	biolink:NamedThing	SLCO1B1			mondo.json		http://identifiers.org/hgnc/10959		
MONDO:0005098	biolink:Disease	stroke disorder	A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event.	EFO:0000712|NCIT:C3390|SCTID:230690007|MESH:D020521|NIFSTD:birnlex_12783|HP:0001297	mondo.json	CVA|CVA, cerebrovascular accident|cerebrovascular accident|cerebral infarction|undetermined stroke|syndrome, stroke|cerebrovascular accident, (CVA)|stroke syndrome|stroke	http://purl.obolibrary.org/obo/MONDO_0005098	NCIT:C3390|http://identifiers.org/snomedct/230690007|http://identifiers.org/mesh/D020521	
MONDO:0005093	biolink:Disease	skin disorder	Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs.	ICD9:709.8|DOID:37|ICD9:702.8|SCTID:95320005|MESH:D012871|ICD9:702|NCIT:C3371|EFO:0000701	mondo.json	disease of zone of skin|disorder of skin|disease or disorder of zone of skin|skin disorder|zone of skin disease|dermatosis|skin diseases and manifestations|genodermatosis|zone of skin disease or disorder|disorder of zone of skin|cutaneous disorder|skin and subcutaneous tissue disease	http://purl.obolibrary.org/obo/MONDO_0005093	http://identifiers.org/mesh/D012871|DOID:37|http://identifiers.org/snomedct/95320005|NCIT:C3371	
MONDO:0044618	biolink:Disease	CLCN4-related X-linked intellectual disability syndrome		Orphanet:485350	mondo.json		http://purl.obolibrary.org/obo/MONDO_0044618	Orphanet:485350	ordo_malformation_syndrome
NCBITaxon:32519	biolink:OrganismalEntity	Ostariophysi		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_32519		
MONDO:0005092	biolink:Disease	signet ring cell carcinoma	A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland.	NCIT:C3774|ICDO:8490/3|EFO:0000698|DOID:3493|MESH:D018279|UMLS:C0206696	mondo.json	signet ring cell carcinoma (morphologic abnormality)|signet ring cell adenocarcinoma|signet ring cell carcinoma|signet ring carcinoma NOS (morphologic abnormality)|signet ring carcinoma	http://purl.obolibrary.org/obo/MONDO_0005092	NCIT:C3774|UMLS:C0206696|DOID:3493|http://identifiers.org/mesh/D018279	
MONDO:0044617	biolink:Disease	X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome		Orphanet:482606	mondo.json		http://purl.obolibrary.org/obo/MONDO_0044617	Orphanet:482606	ordo_malformation_syndrome
HGNC:10961	biolink:NamedThing	SLCO1B3			mondo.json		http://identifiers.org/hgnc/10961		
MONDO:0005095	biolink:Disease	spondyloarthropathy	A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis.	NCIT:C116778|SCTID:8847002|SCTID:372109003|DOID:1123|MESH:D055009|GARD:0004971|EFO:0000706	mondo.json	spondyloarthritis|spondylarthropathy|spondylarthrosis|seronegative spondyloarthropathy|spondarthropathy	http://purl.obolibrary.org/obo/MONDO_0005095	NCIT:C116778|DOID:1123	gard_rare
MONDO:0005094	biolink:Disease	hemangiopericytoma	An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces.	DOID:264|MESH:D006393|SCTID:134335004|NCIT:C3087|ICDO:9150/1	mondo.json	haemangiopericytic meningioma|malignant hemangiopericytoma|hemangiopericytoma, malignant (morphologic abnormality)|haemangiopericytic meningioma [obs]|hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0005094	http://identifiers.org/snomedct/134335004|DOID:264|http://identifiers.org/mesh/D006393|NCIT:C3087	
MONDO:0044619	biolink:Disease	propylthiouracil embryofetopathy	Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects).	Orphanet:485358	mondo.json	propylthiouracil embryopathy|PTU embryopathy|PTU embryofetopathy	http://purl.obolibrary.org/obo/MONDO_0044619	Orphanet:485358	ordo_malformation_syndrome
MONDO:0029042	biolink:Disease	obsolete ureteropelvic junction obstruction		DOID:0111145	mondo.json		http://purl.obolibrary.org/obo/MONDO_0029042	DOID:0111145	
HGNC:10964	biolink:NamedThing	SLC22A18			mondo.json		http://identifiers.org/hgnc/10964		
MONDO:0005091	biolink:Disease	severe acute respiratory syndrome	A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death.	NCIT:C85064|UMLS:C1175175|EFO:0000694|MESH:D045169|SCTID:398447004|DOID:2945|ICD9:079.82|GARD:0009237|MedDRA:10061982|Orphanet:140896	mondo.json	SARS coronavirus caused disease or disorder|acute respiratory coronavirus infection|SARS coronavirus disease or disorder|SARS|SARS-CoV infection|SARS coronavirus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005091	UMLS:C1175175|Orphanet:140896|NCIT:C85064|http://identifiers.org/snomedct/398447004|DOID:2945|http://identifiers.org/mesh/D045169	ordo_disease
MONDO:0005090	biolink:Disease	schizophrenia	A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.	ICD9:295|NCIT:C3362|ICD9:295.9|OMIM:181500|SCTID:58214004|EFO:0000692|DOID:5419|HP:0100753|ICD9:295.85|Orphanet:3140|NIFSTD:birnlex_2104|ICD9:295.8|ICD9:295.80|ICD9:295.90	mondo.json	schizophrenia with or without an affective disorder|schizophrenia|schizophrenia-1|SCZD|schizophrenia, susceptibility to|schizoaffective disorder|schizophrenia (disease)|schizophrenia 12	http://purl.obolibrary.org/obo/MONDO_0005090	DOID:5419|https://omim.org/entry/181500|http://identifiers.org/snomedct/58214004|Orphanet:3140|NCIT:C3362	
MONDO:0032643	biolink:Disease	pontocerebellar hypoplasia, type 12		Orphanet:611256|OMIM:618266	mondo.json	COASY-related pontocerebellar hypoplasia|PONTOCEREBELLAR HYPOPLASIA, TYPE 12|PCH12	http://purl.obolibrary.org/obo/MONDO_0032643	Orphanet:611256|https://omim.org/entry/618266	ordo_disorder
MONDO:0017068	biolink:Disease	upper thoracic spina bifida aperta		UMLS:CN202428|Orphanet:268740	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017068	UMLS:CN202428|Orphanet:268740	ordo_clinical_subtype
MONDO:0017069	biolink:Disease	spina bifida cystica	A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.	MedDRA:10071011|NCIT:C101201|MESH:D016137|Orphanet:268744	mondo.json	spina bifida aperta|open spina bifida|spina bifida manifesta|myelomeningocele|meningomyelocele|spina bifida, open	http://purl.obolibrary.org/obo/MONDO_0017069	http://identifiers.org/mesh/D016137|Orphanet:268744|NCIT:C101201	disease_grouping|ordo_group_of_disorders
MONDO:0032644	biolink:Disease	epidermodysplasia verruciformis, susceptibility to, 3		OMIM:618267	mondo.json	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3|EV3|epidermodysplasia verruciformis 3	http://purl.obolibrary.org/obo/MONDO_0032644	https://omim.org/entry/618267	
CHR:9606-chr8p11	biolink:NamedThing	8p11 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr8p11		
MONDO:0032641	biolink:Disease	mirror movements 4		OMIM:618264	mondo.json	MIRROR MOVEMENTS 4|MRMV4	http://purl.obolibrary.org/obo/MONDO_0032641	https://omim.org/entry/618264	
MONDO:0032642	biolink:Disease	arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development		Orphanet:565858|OMIM:618265	mondo.json	ACCIID|ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT	http://purl.obolibrary.org/obo/MONDO_0032642	Orphanet:565858|https://omim.org/entry/618265	
MONDO:0017064	biolink:Disease	thoracolumbosacral spina bifida aperta		Orphanet:268384|UMLS:CN202423	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017064	UMLS:CN202423|Orphanet:268384	ordo_clinical_subtype
MONDO:0017065	biolink:Disease	lumbosacral spina bifida aperta		UMLS:CN202424|Orphanet:268388	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017065	UMLS:CN202424|Orphanet:268388	ordo_clinical_subtype
HGNC:22938	biolink:NamedThing	NLRP12			mondo.json		http://identifiers.org/hgnc/22938		
MONDO:0017066	biolink:Disease	cervical spina bifida aperta		SCTID:425687007|Orphanet:268392|ICD9:741.91|UMLS:CN202425	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017066	UMLS:CN202425|http://identifiers.org/snomedct/425687007|Orphanet:268392	ordo_clinical_subtype
MONDO:0017067	biolink:Disease	cervicothoracic spina bifida aperta		Orphanet:268397|UMLS:CN202426	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017067	UMLS:CN202426|Orphanet:268397	ordo_clinical_subtype
MONDO:0017050	biolink:Disease	intraocular medulloepithelioma	Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations.	UMLS:CN202409|NCIT:C66806|Orphanet:268139|UMLS:C1883694	mondo.json	orbital medulloepithelioma|intraocular medulloepithelioma	http://purl.obolibrary.org/obo/MONDO_0017050	NCIT:C66806|Orphanet:268139|UMLS:CN202409|UMLS:C1883694	ordo_disease
MONDO:0032649	biolink:Disease	hypotrichosis 14		DOID:0080582|OMIM:618275	mondo.json	HYPT14|HYPOTRICHOSIS 14	http://purl.obolibrary.org/obo/MONDO_0032649	https://omim.org/entry/618275|DOID:0080582	
MONDO:0017051	biolink:Disease	classic maple syrup urine disease	Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.	Orphanet:268145	mondo.json	classic branched-chain ketoaciduria|classic MSUD|classic BCKD deficiency|classic branched-chain 2-ketoacid dehydrogenase deficiency|classic maple syrup urine disease|classic branched-chain alpha-ketoacid dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0017051	Orphanet:268145	ordo_clinical_subtype
MONDO:0017052	biolink:Disease	intermediate maple syrup urine disease	Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.	Orphanet:268162|SCTID:405287008	mondo.json	Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency|intermediate maple syrup urine disease|Intermediate MSUD|Intermediate BCKD deficiency|Intermediate branched-chain 2-ketoacid dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0017052	http://identifiers.org/snomedct/405287008|Orphanet:268162	ordo_clinical_subtype
MONDO:0032647	biolink:Disease	obsolete global developmental delay, lung cysts, overgrowth, and wilms tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0032647		
MONDO:0032648	biolink:Disease	mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations		DOID:0111403|OMIM:618273	mondo.json	MCCCHCM|MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS	http://purl.obolibrary.org/obo/MONDO_0032648	DOID:0111403|https://omim.org/entry/618273	
MONDO:0032645	biolink:Disease	trichohepatoneurodevelopmental syndrome		OMIM:618268	mondo.json	TRICHOHEPATONEURODEVELOPMENTAL SYNDROME|THNS	http://purl.obolibrary.org/obo/MONDO_0032645	https://omim.org/entry/618268	
MONDO:0032646	biolink:Disease	congenital anomalies of kidney and urinary tract 3		OMIM:618270	mondo.json	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3|CAKUT3	http://purl.obolibrary.org/obo/MONDO_0032646	https://omim.org/entry/618270	
ENVO:00003075	biolink:NamedThing	obsolete anthropogenic abiotic mesoscopic feature			mondo.json		http://purl.obolibrary.org/obo/ENVO_00003075		
MONDO:0005068	biolink:Disease	myocardial infarction	Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis.	DOID:5844|EFO:0000612|NCIT:C27996|MESH:D009203|ICD10CM:I21|SCTID:22298006|UMLS:C0027051|HP:0001658	mondo.json	heart attack|myocardial infarction|myocardial infarction (disease)|myocardial infarction, (MI)|infarction (MI), myocardial|myocardial infarct|MI, myocardial infarction|MI	http://purl.obolibrary.org/obo/MONDO_0005068	http://purl.bioontology.org/ontology/ICD10CM/I21|http://identifiers.org/snomedct/22298006|NCIT:C27996|UMLS:C0027051|http://identifiers.org/mesh/D009203|DOID:5844	
ENVO:00003074	biolink:NamedThing	manufactured product	A material entity that has been processed by humans or their technology in any way, including intermediate products as well as final products.		mondo.json	manufactured good	http://purl.obolibrary.org/obo/ENVO_00003074		
MONDO:0044632	biolink:Disease	extracranial carotid artery aneurysm		Orphanet:494424	mondo.json	Ecca|ECAA	http://purl.obolibrary.org/obo/MONDO_0044632	Orphanet:494424	ordo_morphological_anomaly
MONDO:0005067	biolink:Disease	monophasic synovial sarcoma	A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only.	UMLS:C1334801|NCIT:C6534|EFO:0000595|DOID:5495	mondo.json	monophasic synovial sarcoma|monophasic sarcoma of synovium|monophasic sarcoma of the synovium	http://purl.obolibrary.org/obo/MONDO_0005067	NCIT:C6534|UMLS:C1334801|DOID:5495	
MONDO:0044631	biolink:Disease	early-onset familial noncirrhotic portal hypertension		OMIM:617068|Orphanet:494348	mondo.json		http://purl.obolibrary.org/obo/MONDO_0044631	Orphanet:494348	ordo_disease
MONDO:0044634	biolink:Disease	retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome		OMIM:617763|UMLS:C4540367|Orphanet:494439	mondo.json	short stature, hearing loss, retinitis pigmentosa, and distinctive facies|retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0044634	UMLS:C4540367|Orphanet:494439|https://omim.org/entry/617763	ordo_malformation_syndrome
HGNC:10922	biolink:NamedThing	SLC16A1			mondo.json		http://identifiers.org/hgnc/10922		
HGNC:10923	biolink:NamedThing	SLC16A2			mondo.json		http://identifiers.org/hgnc/10923		
MONDO:0005069	biolink:Disease	obsolete narcolepsy with cataplexy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005069		
MONDO:0044633	biolink:Disease	idiopathic pleuroparenchymal fibroelastosis		Orphanet:494428	mondo.json	idiopathic pleuropulmonary fibroelastosis|IPPFE	http://purl.obolibrary.org/obo/MONDO_0044633	Orphanet:494428	ordo_disease
NCIT:C12736	biolink:NamedThing	Intestine			mondo.json		http://purl.obolibrary.org/obo/NCIT_C12736		http://purl.obolibrary.org/obo/NCIT_C157711|http://purl.obolibrary.org/obo/NCIT_C74456|http://purl.obolibrary.org/obo/NCIT_C61410|oncotree_slim|http://purl.obolibrary.org/obo/NCIT_C159008|http://purl.obolibrary.org/obo/NCIT_C159093|http://purl.obolibrary.org/obo/NCIT_C159120|http://purl.obolibrary.org/obo/NCIT_C159117|http://purl.obolibrary.org/obo/NCIT_C159111|http://purl.obolibrary.org/obo/NCIT_C66830|http://purl.obolibrary.org/obo/NCIT_C77529|http://purl.obolibrary.org/obo/NCIT_C77526
MONDO:0005064	biolink:Disease	obsolete infectious meningitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005064		
MONDO:0005063	biolink:Disease	medullary breast carcinoma	An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for less than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent.	EFO:0000580|DOID:5605|NCIT:C9119|UMLS:C0860580|ICDO:8512/3	mondo.json	medullary breast cancer|infiltrating medullary carcinoma of breast|infiltrating medullary carcinoma of the breast|medullary breast carcinoma|medullary breast carcinoma with lymphoid Stroma|invasive medullary carcinoma of breast|invasive medullary carcinoma of the breast|invasive medullary breast carcinoma|medullary carcinoma of breast|breast medullary carcinoma|medullary carcinoma of the breast	http://purl.obolibrary.org/obo/MONDO_0005063	NCIT:C9119|DOID:5605|UMLS:C0860580	
MONDO:0005066	biolink:Disease	metabolic disease	A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process.	ICD9:277.8|ICD10CM:E70-E88|UMLS:C0025517|DOID:0014667|NCIT:C3235|EFO:0000589|MESH:D008659|ICD10WHO:E70-E90|ICD9:277.9|SCTID:75934005	mondo.json	disease of metabolism|disorder of metabolic process|metabolic disorder|metabolic disease|metabolic process disease	http://purl.obolibrary.org/obo/MONDO_0005066	DOID:0014667|https://icd.who.int/browse10/2019/en#/E70-E90|NCIT:C3235|http://purl.bioontology.org/ontology/ICD10CM/E70-E88|UMLS:C0025517|http://identifiers.org/mesh/D008659|http://identifiers.org/snomedct/75934005	harrisons_view
MONDO:0044630	biolink:Disease	obsolete rere-related neurodevelopmental syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0044630		
MONDO:0005065	biolink:Disease	mesothelioma	A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos.	UMLS:C0025500|MESH:D008654|ICD10CM:C45|NCIT:C3234|EFO:0000588	mondo.json	mesothelioma	http://purl.obolibrary.org/obo/MONDO_0005065	NCIT:C3234|http://purl.bioontology.org/ontology/ICD10CM/C45|UMLS:C0025500|http://identifiers.org/mesh/D008654	
MONDO:0005060	biolink:Disease	liposarcoma	A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors.	ONCOTREE:LIPO|MedDRA:10024627|SCTID:254829001|EFO:0000569|Orphanet:69078|ICDO:8850/3|DOID:3382|GARD:0006913|MESH:D008080|ICD9:171.9|UMLS:C0023827|NCIT:C3194	mondo.json	liposarcoma|liposarcoma, malignant|sarcoma of lip|lip sarcoma	http://purl.obolibrary.org/obo/MONDO_0005060	NCIT:C3194|Orphanet:69078|http://identifiers.org/mesh/D008080|http://identifiers.org/snomedct/254829001|DOID:3382|UMLS:C0023827	gard_rare|ordo_disease
MONDO:0044629	biolink:Disease	congenital amyoplasia		Orphanet:488586	mondo.json	amyoplasia congenita	http://purl.obolibrary.org/obo/MONDO_0044629	Orphanet:488586	ordo_malformation_syndrome
MONDO:0044628	biolink:Disease	six2-related frontonasal dysplasia		Orphanet:488437	mondo.json	SIX2-related FND	http://purl.obolibrary.org/obo/MONDO_0044628	Orphanet:488437	ordo_malformation_syndrome
MONDO:0005062	biolink:Disease	lymphoma	A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas.	SCTID:373168002|ICD9:200.1|GARD:0011955|ICD9:200.0|DOID:0060058|Orphanet:223735|ICD9:202.80|NCIT:C3208|EFO:0000574|UMLS:C0024299|MESH:D008223|SCTID:118600007|ONCOTREE:MLYM|ICDO:9590/3|MedDRA:10025310	mondo.json	malignant lymphoma|lymphomatous|lymphoma (Hodgkin's and non-Hodgkin's)|lymphoma|lymphoma, malignant|MLYM|lymphoma (Hodgkin and non-Hodgkin)|lymphoid cancer	http://purl.obolibrary.org/obo/MONDO_0005062	http://identifiers.org/snomedct/118600007|Orphanet:223735|NCIT:C3208|http://identifiers.org/mesh/D008223|UMLS:C0024299|DOID:0060058	disease_grouping|ordo_group_of_disorders
MONDO:0005061	biolink:Disease	lung adenocarcinoma	A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor.	Orphanet:415268|ONCOTREE:LUAD|DOID:3910|UMLS:C0152013|MESH:C538231|EFO:0000571|NCIT:C3512|GARD:0005742|SCTID:254626006|EFO:0005288	mondo.json	lung adenocarcinoma|bronchogenic lung adenocarcinoma|adenocarcinoma of lung|non-small cell lung adenocarcinoma|nonsmall cell adenocarcinoma|adenocarcinoma of the lung	http://purl.obolibrary.org/obo/MONDO_0005061	Orphanet:415268|UMLS:C0152013|http://identifiers.org/snomedct/254626006|NCIT:C3512|http://identifiers.org/mesh/C538231|DOID:3910	gard_rare
MONDO:0044625	biolink:Disease	autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation		Orphanet:487814	mondo.json	CMT2 due to DGAT2 mutation	http://purl.obolibrary.org/obo/MONDO_0044625	Orphanet:487814	ordo_disease
MONDO:0044624	biolink:Disease	pediatric collagenous gastritis		Orphanet:487809	mondo.json	childhood-onset collagenous gastritis	http://purl.obolibrary.org/obo/MONDO_0044624	Orphanet:487809	ordo_disease
MONDO:0044627	biolink:Disease	acute macular neuroretinopathy		Orphanet:488239	mondo.json	AMNR	http://purl.obolibrary.org/obo/MONDO_0044627	Orphanet:488239	ordo_disease
MONDO:0044626	biolink:Disease	female infertility due to oocyte meiotic arrest		OMIM:617743|OMIM:616780|Orphanet:488191	mondo.json		http://purl.obolibrary.org/obo/MONDO_0044626	Orphanet:488191	ordo_disease
MONDO:0020699	biolink:Disease	biotin metabolic disease	A deficiency in biotin through either inherited or acquired causes.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0020699		
MONDO:0017057	biolink:Disease	hereditary thrombocytopenia with normal platelets		Orphanet:268322|UMLS:CN227073	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017057	UMLS:CN227073|Orphanet:268322	ordo_disease
MONDO:0032654	biolink:Disease	hyper-IgE recurrent infection syndrome 3, autosomal recessive		OMIM:618282|DOID:0080595	mondo.json	HIES3|HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE	http://purl.obolibrary.org/obo/MONDO_0032654	https://omim.org/entry/618282|DOID:0080595	
MONDO:0017058	biolink:Disease	autosomal recessive intermediate Charcot-Marie-Tooth disease	Autosomal recessive form of intermediate Charcot-Marie-Tooth disease.	GARD:0012452|UMLS:CN202416|Orphanet:268337	mondo.json	intermediate Charcot-Marie-Tooth disease, autosomal recessive|RI-CMT|autosomal recessive intermediate Charcot-Marie-Tooth disease	http://purl.obolibrary.org/obo/MONDO_0017058	UMLS:CN202416|Orphanet:268337	gard_rare|disease_grouping|ordo_group_of_disorders
MONDO:0032655	biolink:Disease	visual impairment and progressive phthisis bulbi		OMIM:618283|DOID:0070356	mondo.json	VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI|VIPB	http://purl.obolibrary.org/obo/MONDO_0032655	DOID:0070356|https://omim.org/entry/618283	
MONDO:0017059	biolink:Disease	neural tube closure defect	A disease that has its basis in the disruption of neural tube closure.	Orphanet:268357	mondo.json	neural tube closure disease|disorder of neural tube closure	http://purl.obolibrary.org/obo/MONDO_0017059	Orphanet:268357	ordo_group_of_disorders|disease_grouping
MONDO:0032653	biolink:Disease	cardiac-urogenital syndrome		OMIM:618280	mondo.json	CUGS|CARDIAC-UROGENITAL SYNDROME	http://purl.obolibrary.org/obo/MONDO_0032653	https://omim.org/entry/618280	
CHEBI:176843	biolink:ChemicalSubstance	vitamin B12	Any member of a group of cobalamin vitamers that exhibit biological activity against vitamin B12 deficiency. Vitamin B12 deficiency is associated with low red blood cell count and anemia. The vitamers are found in foods such as cereals, meat, fish, and poultry. The vitamers include adenosylcobalamin, hydroxocobalamin, cyanocobalamin, aquacobalamin, nitritocobalamin and methylcobabalamin (also includes their ionized, salt and phosphate derivatives).		mondo.json	vitamins B12|vitamin B12 vitamers|vitamin B12 vitamer|vitamin B-12|vitamin B12	http://purl.obolibrary.org/obo/CHEBI_176843		
MONDO:0017053	biolink:Disease	intermittent maple syrup urine disease	Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.	SCTID:405288003|Orphanet:268173	mondo.json	intermittent MSUD|intermittent BCKD deficiency|intermittent branched-chain 2-ketoacid dehydrogenase deficiency|intermittent maple syrup urine disease|intermittent branched-chain alpha-ketoacid dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0017053	http://identifiers.org/snomedct/405288003|Orphanet:268173	ordo_clinical_subtype
MONDO:0032650	biolink:Disease	neurodegeneration, childhood-onset, with cerebellar atrophy		OMIM:618276	mondo.json	CONDCA|NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY	http://purl.obolibrary.org/obo/MONDO_0032650	https://omim.org/entry/618276	
MONDO:0017054	biolink:Disease	thiamine-responsive maple syrup urine disease	Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine.	Orphanet:268184	mondo.json	thiamine-responsive MSUD|thiamine-responsive BCKD deficiency|thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency|thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency|thiamine-responsive maple syrup urine disease	http://purl.obolibrary.org/obo/MONDO_0017054	Orphanet:268184	ordo_clinical_subtype
MONDO:0032651	biolink:Disease	fibrosis, neurodegeneration, and cerebral angiomatosis		OMIM:618278	mondo.json	FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS|FINCA syndrome|FINCA	http://purl.obolibrary.org/obo/MONDO_0032651	https://omim.org/entry/618278	
MONDO:0017055	biolink:Disease	mycophenolate mofetil embryopathy	Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation.	UMLS:C4509879|Orphanet:268249|SCTID:723406000	mondo.json	MMF embryopathy	http://purl.obolibrary.org/obo/MONDO_0017055	http://identifiers.org/snomedct/723406000|Orphanet:268249|UMLS:C4509879	ordo_disease
CHEBI:176841	biolink:ChemicalSubstance	vitamin B7	Any member of a group of vitamers that belong to the chemical structural class called biotins that exhibit biological activity against vitamin B7 deficiency. Vitamin B7 deficiency is very rare in individuals who take a normal balanced diet. Foods rich in biotin are egg yolk, liver, cereals, vegetables (spinach, mushrooms) and rice. Symptoms associated with vitamin B7 deficiency include thinning hair, scaly skin rashes around eyes, nose and mouth, and brittle nails. The vitamers include biotin and its ionized and salt forms.		mondo.json	vitamin B-7|vitamin B7 vitamer|vitamin B7|vitamin B7 vitamers|vitamins B7	http://purl.obolibrary.org/obo/CHEBI_176841		
MONDO:0017056	biolink:Disease	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		Orphanet:268261|UMLS:CN202414	mondo.json	monosomy 21q22.13q22.2|Del(21)(q22.13q22.2)|monosomy 21q22.13-q22.2|21q22.13-q22.2 microdeletion syndrome|21q22.13q22.2 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0017056	UMLS:CN202414|Orphanet:268261	ordo_clinical_subtype
MONDO:0020690	biolink:Disease	adult glioblastoma		NCIT:C9094	mondo.json	adult glioblastoma|adult glioblastoma multiforme|glioblastoma|grade IV adult astrocytic tumor|grade IV adult astrocytic neoplasm	http://purl.obolibrary.org/obo/MONDO_0020690	NCIT:C9094	
MONDO:0017040	biolink:Disease	exposure-related interstitial lung disease		UMLS:CN202351|Orphanet:264984	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017040	Orphanet:264984|UMLS:CN202351	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
FOODON:03411047	biolink:NamedThing	grain or seed-producing plant			mondo.json		http://purl.obolibrary.org/obo/FOODON_03411047		
MONDO:0017041	biolink:Disease	osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome	Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance.	UMLS:CN202358|Orphanet:2653|SCTID:722108000	mondo.json	Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome	http://purl.obolibrary.org/obo/MONDO_0017041	UMLS:CN202358|http://identifiers.org/snomedct/722108000|Orphanet:2653	ordo_malformation_syndrome
MONDO:0032658	biolink:Disease	macrocephaly, acquired, with impaired intellectual development		OMIM:618286	mondo.json	Macrocephaly, Acquired, With Mental Retardation|MACID|MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT	http://purl.obolibrary.org/obo/MONDO_0032658	https://omim.org/entry/618286	
MONDO:0032659	biolink:Disease	mucocutaneous ulceration, chronic		OMIM:618287	mondo.json	CMCU|MUCOCUTANEOUS ULCERATION, CHRONIC	http://purl.obolibrary.org/obo/MONDO_0032659	https://omim.org/entry/618287	
MONDO:0032656	biolink:Disease	microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum		OMIM:618284	mondo.json	MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM|MCIDDS	http://purl.obolibrary.org/obo/MONDO_0032656	https://omim.org/entry/618284	
MONDO:0032657	biolink:Disease	developmental and epileptic encephalopathy, 69		OMIM:618285	mondo.json	epileptic encephalopathy, early infantile, 69|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69|EIEE69|DEE69|developmental and epileptic encephalopathy 69	http://purl.obolibrary.org/obo/MONDO_0032657	https://omim.org/entry/618285	
MONDO:0005079	biolink:Disease	polyp	A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations.	NCIT:C3340|SCTID:441456002|EFO:0000662|ICD10CM:N84|MESH:D011127	mondo.json	polyp	http://purl.obolibrary.org/obo/MONDO_0005079	http://purl.bioontology.org/ontology/ICD10CM/N84|http://identifiers.org/snomedct/441456002|NCIT:C3340|http://identifiers.org/mesh/D011127	
MONDO:0020698	biolink:Disease	inborn error of biotin metabolism			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020698		
MONDO:0044643	biolink:Disease	congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome		Orphanet:495875	mondo.json	congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0044643	Orphanet:495875	ordo_malformation_syndrome
MONDO:0020697	biolink:Disease	lung epithelial-myoepithelial carcinoma	A lung carcinoma arising within the bronchi or bronchial tubes. It is characterized by the presence of myoepithelial cells, spindle cells, clear cells, and duct-forming epithelial cells. Surgical resection may be curative.	NCIT:C45545	mondo.json	lung epithelial-myoepithelial carcinoma|lung epithelial-myoepithelial cancer	http://purl.obolibrary.org/obo/MONDO_0020697	NCIT:C45545	
MONDO:0005078	biolink:Disease	phyllodes tumor	A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors.	NCIT:C2977|EFO:0000653|MESH:D003557	mondo.json	CSP|phyllodes neoplasm|phyllodes tumor|cystosarcoma phyllodes	http://purl.obolibrary.org/obo/MONDO_0005078	http://identifiers.org/mesh/D003557|NCIT:C2977	
MONDO:0044642	biolink:Disease	c11orf73-related autosomal recessive hypomyelinating leukodystrophy		OMIM:616881|Orphanet:495844	mondo.json	hypomyelinating leukodystrophy due to hikeshi deficiency|C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy	http://purl.obolibrary.org/obo/MONDO_0044642	Orphanet:495844	ordo_disease
HGNC:10936	biolink:NamedThing	SLC18A3			mondo.json		http://identifiers.org/hgnc/10936		
MONDO:0020696	biolink:Disease	vitamin B12 deficiency	A disease characterized by low serum levels of vitamin B12, either inherited or acquired.	NCIT:C131684|SCTID:190634004|UMLS:C0042847|ICD9:266.2|HP:0100502|MESH:D014806	mondo.json	cobalamin deficiency|vitamin b12 deficiency|hypocobalaminemia	http://purl.obolibrary.org/obo/MONDO_0020696	http://identifiers.org/mesh/D014806|UMLS:C0042847|NCIT:C131684|http://identifiers.org/snomedct/190634004	
MONDO:0044645	biolink:Disease	familial monosomy 7 syndrome		Orphanet:495930	mondo.json		http://purl.obolibrary.org/obo/MONDO_0044645	Orphanet:495930	ordo_disease
HGNC:10933	biolink:NamedThing	SLC17A5			mondo.json		http://identifiers.org/hgnc/10933		
MONDO:0044644	biolink:Disease	congenital agenesis of the scrotum		Orphanet:495879	mondo.json	congenital absence of the scrotum|congenital scrotal absence|congenital scrotal agenesis	http://purl.obolibrary.org/obo/MONDO_0044644	Orphanet:495879	ordo_morphological_anomaly
MONDO:0020695	biolink:Disease	hypotonic cerebral palsy	A type of cerebral palsy characterized by decreased muscle tone.	SCTID:192958009|NCIT:C116906	mondo.json	hypotonic cerebral palsy	http://purl.obolibrary.org/obo/MONDO_0020695	http://identifiers.org/snomedct/192958009|NCIT:C116906	
ENVO:00003082	biolink:NamedThing	enriched soil	A portion of enriched soil is a portion of soil with elevated levels of some material entity.		mondo.json		http://purl.obolibrary.org/obo/ENVO_00003082		
MONDO:0005075	biolink:Disease	thyroid gland papillary carcinoma	A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance.	HP:0002895|NCIT:C4035|SCTID:255029007|EFO:0000641|GARD:0012027|ONCOTREE:THPA|UMLS:C0238463|DOID:3969	mondo.json	thyroid gland papillary carcinoma|papillary thyroid gland carcinoma|papillary thyroid carcinoma|thyroid papillary carcinoma|papillary carcinoma of thyroid gland|papillary carcinoma of the thyroid|papillary carcinoma of thyroid|papillary cancer of the thyroid gland|papillary thyroid cancer|papillary cancer of thyroid gland|thyroid gland papillary cancer|papillary cancer of the thyroid|papillary cancer of thyroid|papillary carcinoma of the thyroid gland	http://purl.obolibrary.org/obo/MONDO_0005075	NCIT:C4035|UMLS:C0238463|http://identifiers.org/snomedct/255029007|DOID:3969	
MONDO:0020694	biolink:Disease	salivary gland epithelial myoepithelial carcinoma	A carcinoma that arises from the salivary glands, most often the parotid gland. It presents as a slow growing and painless mass. It is characterized by the presence of duct-like structures lined by two layers of cells, an inner layer composed of epithelial-type cells and an outer layer composed of clear, myoepithelial-type cells.	NCIT:C35701	mondo.json	salivary gland epithelial myoepithelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0020694	NCIT:C35701	
HGNC:10939	biolink:NamedThing	SLC1A1			mondo.json		http://identifiers.org/hgnc/10939		
MONDO:0005074	biolink:Disease	papillary cystadenocarcinoma	A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present.	UMLS:C0206700|ICDO:8450/3|NCIT:C3777|MESH:D018283|EFO:0000639|DOID:3110|GARD:0010162	mondo.json	cystadenocarcinoma, papillary, malignant|papillary cystadenocarcinoma|papillary cystadenocarcinoma, NOS (morphologic abnormality)|papillary cystadenocarcinoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0005074	NCIT:C3777|DOID:3110|UMLS:C0206700|http://identifiers.org/mesh/D018283	gard_rare
MONDO:0020693	biolink:Disease	glycogen storage disease due to liver phosphorylase kinase deficiency	A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.	Orphanet:264580	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020693	Orphanet:264580	ordo_disease
MONDO:0005077	biolink:Disease	pertussis	A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough.	SCTID:27836007|NCIT:C85231|UMLS:C0043167|ICD9:033.0|MedDRA:10034738|DOID:1116|KEGG:05133|ICD10CM:A37.1|GARD:0008692|ICD9:033|ICD9:033.9|Orphanet:1489|MedDRA:10047974|EFO:0000650|MESH:D014917	mondo.json	Bordetella pertussis disease or disorder|Bordetella infection|infection due to Bordetella pertussis|whooping cough|pertussis|Bordetella pertussis infectious disease|Bordetella pertussis caused disease or disorder|Bordetella pertussis infection|WC - whooping cough	http://purl.obolibrary.org/obo/MONDO_0005077	NCIT:C85231|http://identifiers.org/snomedct/27836007|UMLS:C0043167|Orphanet:1489|http://identifiers.org/mesh/D014917|DOID:1116	ordo_disease|gard_rare
MONDO:0020692	biolink:Disease	spondylocostal dysostosis 1, autosomal recessive		OMIM:277300	mondo.json	vertebral anomalies|SCDO1|spondylocostal dysostosis 1, autosomal recessive|spondylothoracic dysplasia|spondylothoracic dysostosis	http://purl.obolibrary.org/obo/MONDO_0020692	https://omim.org/entry/277300	
MONDO:0044641	biolink:Disease	9q33.3q34.11 microdeletion syndrome		Orphanet:495818	mondo.json	monosomy 9q33.3-q34.11|9q33.3-q34.11 microdeletion syndrome|Del(9)(q33.3q34.11)|monosomy 9q33.3q34.11|deletion 9q33.3q34.11	http://purl.obolibrary.org/obo/MONDO_0044641	Orphanet:495818	ordo_malformation_syndrome
MONDO:0044640	biolink:Disease	Charcot-Marie-Tooth disease type 2T		OMIM:617017|UMLS:CN237675|Orphanet:495274	mondo.json	CMT2T|AR-CMT2T|autosomal recessive axonal Charcot-Marie-Tooth disease type 2T	http://purl.obolibrary.org/obo/MONDO_0044640	Orphanet:495274|UMLS:CN237675	ordo_disease
HGNC:10938	biolink:NamedThing	SLC19A2			mondo.json		http://identifiers.org/hgnc/10938		
MONDO:0005076	biolink:Disease	periodontitis	An acute or chronic inflammatory process that affects the tissues that surround and support the teeth.	UMLS:C0600298|DOID:9893|ICD9:523.5|MESH:D010520|ICD10CM:K05.4|SCTID:41565005|NCIT:C34918|DOID:824|EFO:0000649|UMLS:C0031099|MESH:D010518	mondo.json	chronic pericementitis|inflammation of periodontium|periodontosis|periodontium inflammation	http://purl.obolibrary.org/obo/MONDO_0005076	DOID:9893|http://purl.bioontology.org/ontology/ICD10CM/K05.4|UMLS:C0031099|DOID:824|NCIT:C34918|UMLS:C0600298|http://identifiers.org/mesh/D010518|http://identifiers.org/snomedct/41565005	
MONDO:0020691	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0020691		
MONDO:0005071	biolink:Disease	nervous system disorder	A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves.	ICD9:349.89|SCTID:118940003|ICD10CM:G00-G99|ICD9:349.9|NCIT:C26835|MESH:D009422|Wikipedia:Nervous_system_disease|DOID:863|EFO:0000618|UMLS:C0027765	mondo.json	disorder of nervous system|nervous system disorder|nervous system disease or disorder|neurological disorder|disease of nervous system|neurologic disease|disease or disorder of nervous system|nervous system disease|neurologic disorder|neurological disease	http://purl.obolibrary.org/obo/MONDO_0005071	NCIT:C26835|http://identifiers.org/snomedct/118940003|UMLS:C0027765|http://identifiers.org/mesh/D009422|DOID:863|http://purl.bioontology.org/ontology/ICD10CM/G00-G99	
MONDO:0005070	biolink:Disease	neoplasm	A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias.	UMLS:CN236628|SCTID:55342001|ICD9:140-239.99|ONCOTREE:OTHER|ICD10CM:C00-D49|ICD10CM:C7B-C7B|ICD9:239.8|MESH:D009369|NCIT:C3262|ICD10CM:C7A-C7A|ICD9:239.9|HP:0002664|EFO:0000616|DOID:14566	mondo.json	neoplasm|cell process disease|neoplastic disease|disease of cellular proliferation|neoplasm (disease)|neoplastic growth|tumor|tumor disease|neoplasia|other neoplasm	http://purl.obolibrary.org/obo/MONDO_0005070	NCIT:C3262|http://purl.bioontology.org/ontology/ICD10CM/C00-D49|http://identifiers.org/mesh/D009369|http://identifiers.org/snomedct/55342001|DOID:14566|UMLS:CN236628	
MONDO:0005073	biolink:Disease	melanocytic nevus	A neoplasm composed of melanocytes that usually appears as a dark spot on the skin.	EFO:0000625|SCTID:400096001|MESH:D009506|Wikipedia:Nevus|NCIT:C7570	mondo.json	melanocytic Nevus|mole of skin|nevus|melanotic Nevus|mole	http://purl.obolibrary.org/obo/MONDO_0005073	http://identifiers.org/snomedct/400096001|http://identifiers.org/mesh/D009506|NCIT:C7570	
MONDO:0005072	biolink:Disease	neuroblastoma	Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system.	UMLS:C0027819|EFO:0000621|DOID:769|NIFSTD:birnlex_12631|ICDO:9500/3|NCIT:C3270|MESH:D009447|Orphanet:635|GARD:0007185|MedDRA:10029260|UMLS:CN205405|ONCOTREE:NBL|SCTID:432328008	mondo.json	neural Crest tumor, malignant|neuroblastoma|neuroblastoma, malignant|NB|neuroblastoma (Schwannian Stroma-poor)	http://purl.obolibrary.org/obo/MONDO_0005072	NCIT:C3270|http://identifiers.org/snomedct/432328008|UMLS:C0027819|http://identifiers.org/mesh/D009447|DOID:769|Orphanet:635|UMLS:CN205405	ordo_disease|gard_rare
MONDO:0044636	biolink:Disease	obsolete rare hyperkinetic movement disorder		Orphanet:494457	mondo.json		http://purl.obolibrary.org/obo/MONDO_0044636	Orphanet:494457	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
HGNC:10942	biolink:NamedThing	SLC1A4			mondo.json		http://identifiers.org/hgnc/10942		
MONDO:0044635	biolink:Disease	diaph1-related sensorineural hearing loss-thrombocytopenia syndrome		OMIM:124900|Orphanet:494444	mondo.json	DIAPH1-related sensorineural deafness-thrombocytopenia syndrome|diaph1-related sensorineural hearing loss-thrombocytopenia syndrome	http://purl.obolibrary.org/obo/MONDO_0044635	Orphanet:494444	ordo_disease
MONDO:0044638	biolink:Disease	hypopharynx squamous cell carcinoma	A squamous cell carcinoma that involves the hypopharynx.	NCIT:C4043|ONCOTREE:HPHSC|Orphanet:494547|OMIM:275355|EFO:1001960	mondo.json	hypopharyngeal squamous cell carcinoma|squamous cell carcinoma of the hypopharynx|hypopharyngeal throat squamous cell cancer|squamous cell carcinoma of hypopharynx|hypopharyngeal epidermoid carcinoma|epidermoid carcinoma of the hypopharynx|epidermoid carcinoma of hypopharynx	http://purl.obolibrary.org/obo/MONDO_0044638	NCIT:C4043|Orphanet:494547	ordo_disease
MONDO:0020689	biolink:Disease	AIDS dementia complex	A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40)	EFO:0002608|SCTID:421529006|UMLS:C0001849|NCIT:C2864|MESH:D015526|GARD:0008250|ICD9:294.8	mondo.json	HIV ASSOC COGNITIVE MOTOR COMPLEX|HIV-1-Associated Cognitive Motor Complex|Dementia associated with AIDS|DEMENTIA COMPLEX ACQUIRED IMMUNE DEFIC SYNDROME|acquired immune deficiency syndrome-related dementia|AIDS related cognitive impairment|HIV-associated dementia|Dementias, HIV|ADC - Acquired immune deficiency syndrome dementia complex|AIDS related Dementia Complex|AIDS with dementia (disorder)|acquired immune deficiency syndrome dementia complex|AIDS dementia|AIDS RELAT DEMENTIA COMPLEX|Acquired immune deficiency syndrome-related dementia|HIV associated cognitive and motor complex|AIDS-related Dementia Complex|Dementia Complex, Acquired Immune Deficiency Syndrome|HIV Dementia|Dementia Complex, AIDS|HIV Dementias|AIDS dementia complex|HIV Associated Cognitive Motor Complex|AIDS Dementia Complex|Encephalopathies, HIV|Dementia Complex, AIDS-related|AIDS Dementia|HIV-1 Cognitive and Motor Complex|HIV 1 Associated Cognitive Motor Complex|HIV Encephalopathy|AIDS - Acquired immune deficiency syndrome dementia complex|Complex, AIDS-related Dementia|Encephalopathy, AIDS|Encephalopathy, HIV|Dementia Complex, AIDS related|HIV-Associated Cognitive Motor Complex|Acquired-Immune Deficiency Syndrome Dementia Complex|DEMENTIA COMPLEX AIDS RELAT|AIDS Encephalopathy|HIV Encephalopathies|HIV 1 Cognitive and Motor Complex|Complex, AIDS Dementia|Encephalopathies, AIDS|ADC|Acquired immune deficiency syndrome dementia complex|Dementia associated with acquired immunodeficiency syndrome|HIV encephalitis|Dementia, HIV|AIDS Encephalopathies	http://purl.obolibrary.org/obo/MONDO_0020689	http://identifiers.org/mesh/D015526|NCIT:C2864|UMLS:C0001849|http://identifiers.org/snomedct/421529006	gard_rare
HGNC:10940	biolink:NamedThing	SLC1A2			mondo.json		http://identifiers.org/hgnc/10940		
MONDO:0020688	biolink:Disease	spinal cord ischemia	Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with arteriosclerosis, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to infarction of spinal cord tissue.	MESH:D020760	mondo.json	experimental spinal cord ischemia|spinal cord Ischemias|ischemic myelopathies|cord Ischemias, spinal|cord ischemia, spinal|ischemia, spinal cord|myelopathy, ischemic|myelopathies, ischemic|spinal cord ischemia, experimental|ischemias, spinal cord|ischemic myelopathy	http://purl.obolibrary.org/obo/MONDO_0020688	http://identifiers.org/mesh/D020760	
MONDO:0044637	biolink:Disease	infantile-onset generalized dyskinesia with orofacial involvement		OMIM:616921|Orphanet:494526	mondo.json	infantile-onset orofacial-trunk-limbs dyskinesia	http://purl.obolibrary.org/obo/MONDO_0044637	Orphanet:494526	ordo_disease
HGNC:10941	biolink:NamedThing	SLC1A3			mondo.json		http://identifiers.org/hgnc/10941		
MONDO:0032665	biolink:Disease	intellectual developmental disorder, autosomal recessive 68		OMIM:618302	mondo.json	MRT68|Mental Retardation, Autosomal Recessive 68|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68	http://purl.obolibrary.org/obo/MONDO_0032665	https://omim.org/entry/618302	
FOODON:03411041	biolink:NamedThing	chemical food component	Any chemical or chemical mixture that exists in a food material or was added to a food material.		mondo.json		http://purl.obolibrary.org/obo/FOODON_03411041		
MONDO:0017046	biolink:Disease	neuroepithelioma	Peripheral neuroepithelioma is a rare noncentral nervous system tumor with evidence of primitive neuroectodermal differentiation.	OMIM:612219|Orphanet:2677|GARD:0003963	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017046	Orphanet:2677	ordo_disease|gard_rare
MONDO:0032666	biolink:Disease	epidermodysplasia verruciformis, susceptibility to, 4		OMIM:618307	mondo.json	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4|EV4	http://purl.obolibrary.org/obo/MONDO_0032666	https://omim.org/entry/618307	
MONDO:0017047	biolink:Disease	infantile axonal neuropathy		Orphanet:2679|GARD:0002996	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017047		ordo_disease|gard_rare
MONDO:0030004	biolink:Disease	autism, susceptibility to, 20		OMIM:618830	mondo.json	AUTS20|autism, susceptibility to, 20|AUTISM, SUSCEPTIBILITY TO, 20	http://purl.obolibrary.org/obo/MONDO_0030004	https://omim.org/entry/618830	
MONDO:0017048	biolink:Disease	pseudomyxoma peritonei	Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis.	EFO:0007456|SCTID:307601000|MESH:D011553|GARD:0007488|ICDO:8480/6|UMLS:C0033822|NCIT:C3345|DOID:3559|GARD:0002448|Orphanet:26790|MedDRA:10037138	mondo.json	pseudomyxoma peritonei (morphologic abnormality)|well differentiated peritoneal mucinous adenocarcinoma|peritoneal cavity pseudomyxoma peritonei|Myxoma peritonei|syndrome of pseudomyxoma peritonei|pseudomyxoma peritonei|Adenomucinosis|PMP|mucinous ascites|gelatinous ascites	http://purl.obolibrary.org/obo/MONDO_0017048	DOID:3559|http://identifiers.org/mesh/D011553|Orphanet:26790|NCIT:C3345|UMLS:C0033822|http://identifiers.org/snomedct/307601000	gard_rare|ordo_disease
MONDO:0032663	biolink:Disease	developmental and epileptic encephalopathy, 70		OMIM:618298	mondo.json	DEE70|EIEE70|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70|epileptic encephalopathy, early infantile, 70|developmental and epileptic encephalopathy 70	http://purl.obolibrary.org/obo/MONDO_0032663	https://omim.org/entry/618298	
MONDO:0017049	biolink:Disease	hypomyelination neuropathy-arthrogryposis syndrome	Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.	UMLS:CN202399|Orphanet:2680	mondo.json	Boylan-dew syndrome	http://purl.obolibrary.org/obo/MONDO_0017049	UMLS:CN202399|Orphanet:2680	ordo_malformation_syndrome
MONDO:0032664	biolink:Disease	ciliary dyskinesia, primary, 40		OMIM:618300	mondo.json	Ciliary Dyskinesia, Primary, 40, With or Without Situs Inversus|CILD40|CILIARY DYSKINESIA, PRIMARY, 40	http://purl.obolibrary.org/obo/MONDO_0032664	https://omim.org/entry/618300	
MONDO:0017042	biolink:Disease	thanatophoric dysplasia	Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.	SCTID:29352008|NCIT:C85187|MESH:D013796|MedDRA:10049808|GARD:0000085|ICD9:259.4|UMLS:C0039743|DOID:13481|Orphanet:2655	mondo.json	thanatophoric dwarfism|Td|dwarfism thanatophoric	http://purl.obolibrary.org/obo/MONDO_0017042	NCIT:C85187|http://identifiers.org/snomedct/29352008|Orphanet:2655|UMLS:C0039743|http://identifiers.org/mesh/D013796|DOID:13481	gard_rare|ordo_disease
MONDO:0032661	biolink:Disease	neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia		OMIM:618292	mondo.json	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA|NEDIDHA	http://purl.obolibrary.org/obo/MONDO_0032661	https://omim.org/entry/618292	
MONDO:0017043	biolink:Disease	congenital mesoblastic nephroma	A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis.	MedDRA:10070665|ICDO:8960/1|GARD:0001493|NCIT:C6569|Orphanet:2665|DOID:4773|UMLS:C1332965	mondo.json	stromal nephroma, malignant|CMn|congenital mesoblastic nephroma|mesoblastic nephroma	http://purl.obolibrary.org/obo/MONDO_0017043	NCIT:C6569|Orphanet:2665|UMLS:C1332965|DOID:4773	gard_rare|ordo_disease
MONDO:0032662	biolink:Disease	intellectual developmental disorder, autosomal recessive 67		OMIM:618295	mondo.json	Mental Retardation, Autosomal Recessive 67|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67|MRT67	http://purl.obolibrary.org/obo/MONDO_0032662	https://omim.org/entry/618295	
MONDO:0017044	biolink:Disease	adult familial nephronophthisis-spastic quadriparesia syndrome	This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients.	Orphanet:2666|UMLS:CN202376	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017044	UMLS:CN202376|Orphanet:2666	ordo_disease
MONDO:0032660	biolink:Disease	spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant		OMIM:618291|DOID:0070350	mondo.json	SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT|SMALED2B|spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0032660	DOID:0070350|https://omim.org/entry/618291	
MONDO:0017045	biolink:Disease	neuroectodermal-endocrine syndrome	Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.	UMLS:CN202391|GARD:0003959|SCTID:724090001|Orphanet:2676	mondo.json	neuroectodermal endocrine syndrome|Oerter-Friedman-Anderson syndrome	http://purl.obolibrary.org/obo/MONDO_0017045	http://identifiers.org/snomedct/724090001|UMLS:CN202391|Orphanet:2676	ordo_malformation_syndrome|gard_rare
MONDO:0032706	biolink:Disease	spinocerebellar ataxia, autosomal recessive 27		DOID:0111616|OMIM:618369	mondo.json	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27|SCAR27	http://purl.obolibrary.org/obo/MONDO_0032706	https://omim.org/entry/618369|DOID:0111616	
MONDO:0032707	biolink:Disease	turnpenny-fry syndrome		OMIM:618371	mondo.json	TPFS|TURNPENNY-FRY SYNDROME|Neurocardioskeletal Syndrome	http://purl.obolibrary.org/obo/MONDO_0032707	https://omim.org/entry/618371	
MONDO:0007748	biolink:Disease	hypercalciuria, absorptive, 2		MESH:C562790|ICD9:V18.19|SCTID:237886009|OMIM:143870	mondo.json	hypercalciuria, absorptive, susceptibility to|hypercalciuria, absorptive, type 2|HCA2|hypercalciuria, familial idiopathic|hypercalciuria, absorptive, 2	http://purl.obolibrary.org/obo/MONDO_0007748	http://identifiers.org/mesh/C562790|https://omim.org/entry/143870|http://identifiers.org/snomedct/237886009	
MONDO:0032705	biolink:Disease	neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination		OMIM:618367|Orphanet:597874	mondo.json	NEDMEHM|NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION|MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0032705	https://omim.org/entry/618367|Orphanet:597874	ordo_disease
MONDO:0007749	biolink:Disease	obsolete autosomal recessive infantile hypercalcemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007749		
MONDO:0007746	biolink:Disease	orthostatic hypotensive disorder, Streeten type		MESH:C564174|UMLS:C1840438|OMIM:143850	mondo.json	orthostatic hypotensive disorder|hyperbradykininism|orthostatic hypotensive disorder, Streeten type|OHDS|orthostatic hypotensive disorder of Streeten	http://purl.obolibrary.org/obo/MONDO_0007746	http://identifiers.org/mesh/C564174|UMLS:C1840438|https://omim.org/entry/143850	
MONDO:0032702	biolink:Disease	Coffin-Siris syndrome 8	Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCC2 gene.	OMIM:618362	mondo.json	SMARCC2-related BAFopathy|CSS8|COFFIN-SIRIS SYNDROME 8	http://purl.obolibrary.org/obo/MONDO_0032702	https://omim.org/entry/618362	
MONDO:0007747	biolink:Disease	isolated hyperchlorhidrosis		OMIM:143860|SCTID:709413001|ICD9:276.9|Orphanet:542657|DOID:0111371	mondo.json	isolated hyperchlorhidrosis|hyperchlorhidrosis, isolated	http://purl.obolibrary.org/obo/MONDO_0007747	DOID:0111371|Orphanet:542657|https://omim.org/entry/143860|http://identifiers.org/snomedct/709413001	ordo_disease
MONDO:0032703	biolink:Disease	short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis		OMIM:618363	mondo.json	SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS|SSASKS	http://purl.obolibrary.org/obo/MONDO_0032703	https://omim.org/entry/618363	
MONDO:0007744	biolink:Disease	cholesterol-ester transfer protein deficiency		DOID:0111368|Orphanet:79506|SCTID:15771000119109|UMLS:CN205999|OMIM:143470|UMLS:C3875011	mondo.json	HALP1|hyperalphalipoproteinemia 1|high density lipoprotein cholesterol level quantitative trait locus 10|hyperalphalipoproteinemia|hyperalphalipoproteinemia type 1|Hdlcq10|cholesterol ester transfer Protein deficiency|CETP deficiency|high density lipoprotein cholesterol level QTL 10|familial hyperalphalipoproteinemia|CEPT deficiency	http://purl.obolibrary.org/obo/MONDO_0007744	http://identifiers.org/snomedct/15771000119109|Orphanet:79506|https://omim.org/entry/143470|UMLS:CN205999|UMLS:C3875011|DOID:0111368	ordo_disease
MONDO:0007745	biolink:Disease	Gilbert syndrome	An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice.	DOID:2739|ICD10CM:E80.4|OMIM:143500|GARD:0006507|SCTID:27503000|MESH:D005878|Orphanet:357|EFO:0005556|NCIT:C84729	mondo.json	hereditary nonhemolytic jaundice|Gilbert's disease|Gilbert's syndrome|hyperbilirubinemia, Arias type|hyperbilirubinemia type 1|Gilbert syndrome|hyperbilirubinemia 1|Gilbert-Meulengracht syndrome|Gilbert disease|familial cholemia|hyperbilirubinemia, Gilbert type|constitutional hyperbilirubinemia	http://purl.obolibrary.org/obo/MONDO_0007745	DOID:2739|https://omim.org/entry/143500|http://identifiers.org/mesh/D005878|NCIT:C84729|http://identifiers.org/snomedct/27503000|http://purl.bioontology.org/ontology/ICD10CM/E80.4|Orphanet:357	
MONDO:0020720	biolink:Disease	X-linked hypophosphatemic rickets		MESH:D053098|NCIT:C123265|UMLS:C3540852	mondo.json	X-linked hypophosphatemic rickets (recessive or dominant)|X-linked hypophosphatemic rickets	http://purl.obolibrary.org/obo/MONDO_0020720	http://identifiers.org/mesh/D053098|UMLS:C3540852|NCIT:C123265	
MONDO:0007742	biolink:Disease	5-hydroxytryptamine oxygenase regulator		OMIM:143460	mondo.json	5-HYDROXYTRYPTAMINE oxygenase regulator|5-hydroxytryptamine oxygenase regulator|HTOR	http://purl.obolibrary.org/obo/MONDO_0007742	https://omim.org/entry/143460	
MONDO:0007743	biolink:Disease	attention deficit-hyperactivity disorder	A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible type, hyperactive/impulsive type.	OMIM:143465|NCIT:C97160	mondo.json	ADHD|attention deficit-hyperactivity disorder|attention deficit hyperactivity disorder|attention deficit/hyperactivity disorder|hyperactivity of childhood|attention deficit-hyperactivity disorder, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0007743	NCIT:C97160|https://omim.org/entry/143465	
MONDO:0007740	biolink:Disease	Wagner disease	Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment.	MESH:C536075|GARD:0007871|OMIM:143200|UMLS:C1840452|Orphanet:898|SCTID:232064001|MedDRA:10063383|ICD10CM:H35.5	mondo.json	Wagner vitreoretinopathy|dominant hyaloideoretinal dystrophy of Wagner|ERVR|hyaloideoretinal Degeneration of Wagner|Wagner disease|erosive vitreoretinopathy|Wagner disease (formerly)|Wagner syndrome type 1|Wagner vitreoretinal Degeneration|Wagner syndrome 1|VCAN-related vitreoretinopathy|WGN1|vitreoretinal degeneration, Wagner type|Wagner syndrome|WGVRP	http://purl.obolibrary.org/obo/MONDO_0007740	https://omim.org/entry/143200|UMLS:C1840452|http://identifiers.org/mesh/C536075|http://identifiers.org/snomedct/232064001|Orphanet:898	ordo_disease
MONDO:0007741	biolink:Disease	congenital hydronephrosis	Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy.	SCTID:16297002|NCIT:C102979|MedDRA:10050975|OMIM:143400|Orphanet:2190|UMLS:C0266316|ICD10CM:Q62.0|ICD9:753.29	mondo.json		http://purl.obolibrary.org/obo/MONDO_0007741	NCIT:C102979|http://identifiers.org/snomedct/16297002|http://purl.bioontology.org/ontology/ICD10CM/Q62.0|Orphanet:2190|UMLS:C0266316	ordo_morphological_anomaly
NCBITaxon:44542	biolink:OrganismalEntity	gambiae species complex		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_44542		
MONDO:0019739	biolink:Disease	atypical hemolytic-uremic syndrome with anti-factor H antibodies		Orphanet:93581|UMLS:CN206652	mondo.json	D-HUS with anti-factor H antibodies|hemolytic-uremic syndrome without diarrhea with anti-factor H antibodies|aHUS with anti-factor H antibodies|atypical HUS with anti-factor H antibodies	http://purl.obolibrary.org/obo/MONDO_0019739	UMLS:CN206652|Orphanet:93581	ordo_etiological_subtype
HP:0002014	biolink:PhenotypicFeature	Diarrhea	Abnormally increased frequency of loose or watery bowel movements.	SNOMEDCT_US:62315008|MSH:D003967|UMLS:C0011991|SNOMEDCT_US:267060006	mondo.json	Watery stool|Diarrhoea|Diarrhea	http://purl.obolibrary.org/obo/HP_0002014		
MONDO:0020717	biolink:Disease	autosomal dominant woolly hair		OMIM:194300|DOID:0111573	mondo.json	ADWH|woolly hair, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0020717	https://omim.org/entry/194300|DOID:0111573	
HP:0002015	biolink:PhenotypicFeature	Dysphagia	Difficulty in swallowing.	SNOMEDCT_US:40739000|SNOMEDCT_US:288939007|MEDDRA:10013950|UMLS:C0011168|MSH:D003680	mondo.json	Swallowing difficulty|Deglutition disorder|Swallowing difficulties|Difficulty swallowing|Poor swallowing	http://purl.obolibrary.org/obo/HP_0002015		hposlim_core
MONDO:0020716	biolink:Disease	familial thyroid dyshormonogenesis 1		OMIM:274400	mondo.json	thyroid hormonogenesis, genetic defect in, 1|thyroid dyshormonogenesis 1|hypothyroidism, congenital, due to dyshormonogenesis, 1|iodine accumulation, transport, or trapping defect|thyroid dyshormonogenesis type 1|TDH1	http://purl.obolibrary.org/obo/MONDO_0020716	https://omim.org/entry/274400	
MONDO:0019738	biolink:Disease	atypical hemolytic-uremic syndrome with H factor anomaly		UMLS:CN206650|Orphanet:93579	mondo.json	D-HUS with H factor anomaly|hemolytic-uremic syndrome without diarrhea with H factor anomaly|atypical HUS with H factor anomaly|aHUS with H factor anomaly	http://purl.obolibrary.org/obo/MONDO_0019738	UMLS:CN206650|Orphanet:93579	ordo_etiological_subtype
HP:0002012	biolink:PhenotypicFeature	Abnormality of the abdominal organs	An abnormality of the viscera of the abdomen.	UMLS:C4021764	mondo.json	Abnormality of the abdominal organs|Gastrointestinal tract defects	http://purl.obolibrary.org/obo/HP_0002012		
MONDO:0020715	biolink:Disease	multiple system atrophy 1, susceptibility to		OMIM:146500	mondo.json	MSA1|multiple system atrophy, susceptibility to|MSA1, susceptibility to|multiple system atrophy 1, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020715	https://omim.org/entry/146500	
HP:0002013	biolink:PhenotypicFeature	Vomiting	Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.	SNOMEDCT_US:422400008|MEDDRA:10047700|UMLS:C0042963|SNOMEDCT_US:300359004|SNOMEDCT_US:249497008|MSH:D014839	mondo.json	Throwing up|Emesis|Vomiting	http://purl.obolibrary.org/obo/HP_0002013		hposlim_core
MONDO:0020714	biolink:Disease	mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy		OMIM:251900	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020714	https://omim.org/entry/251900	
MONDO:0019735	biolink:Disease	polymyalgia rheumatica	A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression.	NCIT:C85018|DOID:853|MedDRA:10068240|ICD9:725|Orphanet:93569|SCTID:65323003|MESH:D011111|UMLS:C0032533|UMLS:C1527406|GARD:0004704	mondo.json	polymyalgia rheumatica|rhizomelic pseudopolyarthritis	http://purl.obolibrary.org/obo/MONDO_0019735	NCIT:C85018|http://identifiers.org/snomedct/65323003|Orphanet:93569|UMLS:C0032533|UMLS:C1527406|DOID:853|http://identifiers.org/mesh/D011111	ordo_disease
MONDO:0020713	biolink:Disease	pulmonary venoocclusive disease 1		OMIM:265450	mondo.json	pulmonary venoocclusive disease 1, autosomal dominant|PVOD1	http://purl.obolibrary.org/obo/MONDO_0020713	https://omim.org/entry/265450	
HP:0002019	biolink:PhenotypicFeature	Constipation	Infrequent or difficult evacuation of feces.	SNOMEDCT_US:225595004|SNOMEDCT_US:14760008|MSH:D003248|UMLS:C0009806|UMLS:C0237326	mondo.json	Constipation|Costiveness|Dyschezia	http://purl.obolibrary.org/obo/HP_0002019		
MONDO:0019734	biolink:Disease	juvenile polymyositis	An idiopathic inflammatory myopathy of childhood resulting in muscle weakness.	SCTID:738526005|EFO:1001988|UMLS:C3826988|NCIT:C114358|Orphanet:93568|GARD:0012742	mondo.json	JPM|juvenile PM	http://purl.obolibrary.org/obo/MONDO_0019734	NCIT:C114358|UMLS:C3826988|Orphanet:93568|http://identifiers.org/snomedct/738526005	ordo_disease|gard_rare
MONDO:0020712	biolink:Disease	46,XY sex reversal 1		OMIM:400044|DOID:0111778	mondo.json	46,XY sex reversal 1|46,XY sex reversal, SRY-related|46XY sex reversal 1, Y-linked|46,XY sex reversal type 1|46,XY true hermaphroditism, SRY-related|SRXY1|46,XY gonadal dysgenesis, complete, SRY-related	http://purl.obolibrary.org/obo/MONDO_0020712	https://omim.org/entry/400044|DOID:0111778	
MONDO:0019737	biolink:Disease	thrombotic microangiopathy	The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation.	GARD:0012465|Orphanet:93573|SCTID:126729006|ICD9:446.6|MedDRA:10043645|MESH:D057049|UMLS:C2717961|ICD10CM:M31.1|NCIT:C62605	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019737	NCIT:C62605|http://identifiers.org/snomedct/126729006|UMLS:C2717961|http://identifiers.org/mesh/D057049|Orphanet:93573|http://purl.bioontology.org/ontology/ICD10CM/M31.1	ordo_group_of_disorders|disease_grouping
MONDO:0020711	biolink:Disease	selective peripheral resistance to thyroid hormone	A thyroid hormone resistance syndrome characterized by resistance in peripheral tissues but not in the pituitary.		mondo.json	PerRTH	http://purl.obolibrary.org/obo/MONDO_0020711		
MONDO:0019736	biolink:Disease	dense deposit disease	Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen.	Orphanet:93571|OMIM:609814|GARD:0008555|NCIT:C123039|SCTID:722760002|UMLS:C0268743	mondo.json	Mesangiocapillary glomerulonephritis type 2|glomerulonephritis membranoproliferative type 2|membranoproliferative glomerulonephritis type 2|MPGN 2|membranoproliferative glomerulonephritis type II	http://purl.obolibrary.org/obo/MONDO_0019736	NCIT:C123039|Orphanet:93571|UMLS:C0268743|http://identifiers.org/snomedct/722760002	ordo_histopathological_subtype
HP:0002017	biolink:PhenotypicFeature	Nausea and vomiting	Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.	UMLS:C0027498|SNOMEDCT_US:16932000	mondo.json	Nausea and vomiting	http://purl.obolibrary.org/obo/HP_0002017		
MONDO:0020710	biolink:Disease	amnionitis	Inflammation of the amnion.	NCIT:C50459|UMLS:C0002631|ICD9:658.40|SCTID:10573002	mondo.json	Infection of amniotic cavity|amniotic cavity infection|infection of amniotic cavity|amnionitis|amnionitides|amniotic infection syndrome	http://purl.obolibrary.org/obo/MONDO_0020710	UMLS:C0002631|http://identifiers.org/snomedct/10573002|NCIT:C50459	
MONDO:0019731	biolink:Disease	AApoAI amyloidosis		Orphanet:93560|UMLS:CN206638	mondo.json	hereditary renal amyloidosis due to apolipoprotein A-I variant|familial amyloid nephropathy due to apolipoprotein A-I variant|familial renal amyloidosis due to apolipoprotein A-I variant|hereditary amyloid nephropathy due to apolipoprotein A-I variant|apolipoprotein A-I amyloidosis	http://purl.obolibrary.org/obo/MONDO_0019731	UMLS:CN206638|Orphanet:93560	ordo_clinical_subtype
HGNC:2799	biolink:NamedThing	GRHL2			mondo.json		http://identifiers.org/hgnc/2799		
MONDO:0019730	biolink:Disease	light chain deposition disease	Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases.	NCIT:C7727|SCTID:373604002|GARD:0006906|Orphanet:93558|UMLS:C0238239	mondo.json	Bence Jones myeloma|Light chain disease|Light-chain deposition disease|Light chain gammopathy|LCDD	http://purl.obolibrary.org/obo/MONDO_0019730	http://identifiers.org/snomedct/373604002|Orphanet:93558|UMLS:C0238239|NCIT:C7727	gard_rare|ordo_clinical_subtype
MONDO:0032710	biolink:Disease	developmental and epileptic encephalopathy, 72		OMIM:618374	mondo.json	EIEE72|DEE72|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72|epileptic encephalopathy, early infantile, 72|developmental and epileptic encephalopathy 72	http://purl.obolibrary.org/obo/MONDO_0032710	https://omim.org/entry/618374	
MONDO:0019733	biolink:Disease	AFib amyloidosis		UMLS:CN206640|Orphanet:93562	mondo.json	familial amyloid nephropathy due to fibrinogen A alpha-chain variant|hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant|fibrinogen A alpha-chain amyloidosis|hereditary renal amyloidosis due to fibrinogen A alpha-chain variant	http://purl.obolibrary.org/obo/MONDO_0019733	UMLS:CN206640|Orphanet:93562	ordo_clinical_subtype
MONDO:0019732	biolink:Disease	ALys amyloidosis		UMLS:CN206639|Orphanet:93561	mondo.json	familial renal amyloidosis due to lysozyme variant|hereditary amyloid nephropathy due to lysozyme variant|lysozyme amyloidosis|hereditary renal amyloidosis due to lysozyme variant|familial amyloid nephropathy due to lysozyme variant	http://purl.obolibrary.org/obo/MONDO_0019732	UMLS:CN206639|Orphanet:93561	ordo_clinical_subtype
HP:0002011	biolink:PhenotypicFeature	Morphological central nervous system abnormality	A structural abnormality of the central nervous system.	UMLS:C4021765|SNOMEDCT_US:23853001|UMLS:C0007682|MSH:D002493	mondo.json	Morphological abnormality of the CNS|Central nervous system disease|Morphological abnormality of the central nervous system|Abnormality of the central nervous system	http://purl.obolibrary.org/obo/HP_0002011		
NCBITaxon:32561	biolink:OrganismalEntity	Sauria		GC_ID:1	mondo.json	Diapsida|diapsids	http://purl.obolibrary.org/obo/NCBITaxon_32561		
MONDO:0020719	biolink:Disease	obsolete susceptibility to Hirschsprung disease			mondo.json	HSCR	http://purl.obolibrary.org/obo/MONDO_0020719		
MONDO:0020718	biolink:Disease	congenital short bowel syndrome, autosomal recessive		UMLS:C0021847|OMIM:615237	mondo.json	congenital short bowel syndrome due to CLMP variation|CSBS|congenital short bowel syndrome 1|congenital short bowel syndrome	http://purl.obolibrary.org/obo/MONDO_0020718	UMLS:C0021847|https://omim.org/entry/615237	
MONDO:0032717	biolink:Disease	amelogenesis imperfecta, type 3c		OMIM:618386|DOID:0111722	mondo.json	AI3C|AMELOGENESIS IMPERFECTA, TYPE IIIC|Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive	http://purl.obolibrary.org/obo/MONDO_0032717	https://omim.org/entry/618386|DOID:0111722	
MONDO:0007759	biolink:Disease	hyperlipidemia, familial combined, LPL related		OMIM:144250	mondo.json	combined hyperlipidemia, familial|FCHL|familial combined hyperlipidemia|hyperlipidemia, familial combined	http://purl.obolibrary.org/obo/MONDO_0007759	https://omim.org/entry/144250	
MONDO:0032715	biolink:Disease	intellectual developmental disorder, autosomal recessive 69		OMIM:618383	mondo.json	Mental Retardation, Autosomal Recessive 69|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69|MRT69	http://purl.obolibrary.org/obo/MONDO_0032715	https://omim.org/entry/618383	
MONDO:0032716	biolink:Disease	leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate		OMIM:618384|Orphanet:615964	mondo.json	ARLIAK|LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE|acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate|acute reversible leukoencephalopathy due to SLC13A3 deficiency|acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency	http://purl.obolibrary.org/obo/MONDO_0032716	https://omim.org/entry/618384|Orphanet:615964	ordo_disorder
MONDO:0007757	biolink:Disease	hyperkeratosis-hyperpigmentation syndrome	Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993.	UMLS:C1840428|OMIM:144190|MESH:C564172|Orphanet:1336	mondo.json	hyperkeratosis-hyperpigmentation syndrome	http://purl.obolibrary.org/obo/MONDO_0007757	https://omim.org/entry/144190|UMLS:C1840428|Orphanet:1336|http://identifiers.org/mesh/C564172	ordo_disease
NCBITaxon:44537	biolink:OrganismalEntity	Pyretophorus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_44537		
MONDO:0007758	biolink:Disease	epidermolytic palmoplantar keratoderma	A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas.	Orphanet:2199|ICD9:757.39|OMIM:144200|GARD:0002826|NCIT:C84693|UMLS:C1721006|SCTID:399955009|DOID:0080223	mondo.json	epidermolytic palmoplantar keratoderma of Voerner|keratoderma, epidermolytic palmoplantar|hyperkeratosis palmoplantar localized epidermolytic|hyperkeratosis, localized epidermolytic|tylosis|palmoplantar keratoderma, Vorner type|epidermolytic palmoplantar keratoderma of Vörner|diffuse erythrodermic palmoplantar keratoderma, VC6rner type|keratosis of Greither|palmoplantar keratoderma, epidermolytic|epidermolytic palmoplantar keratoderma of VC6rner|diffuse erythrodermic palmoplantar keratoderma, Voerner type|diffuse erythrodermic palmoplantar keratoderma, Vörner type|keratosis palmaris Et plantaris Familiaris|EPPK|palmoplantar keratoderma, epidermolytic, with knuckle pads|Ppke	http://purl.obolibrary.org/obo/MONDO_0007758	UMLS:C1721006|https://omim.org/entry/144200|NCIT:C84693|Orphanet:2199|DOID:0080223|http://identifiers.org/snomedct/399955009	ordo_disease|gard_rare
MONDO:0032714	biolink:Disease	facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome		Orphanet:598603|OMIM:618381	mondo.json	FHEIG|FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME	http://purl.obolibrary.org/obo/MONDO_0032714	https://omim.org/entry/618381|Orphanet:598603	
MONDO:0007755	biolink:Disease	hyperimmunoglobulin G1(A1) syndrome		MESH:C564173|UMLS:C1840429|OMIM:144120	mondo.json	hyperimmunoglobulin G1 syndrome|Immunoglobulin heavy chain regulator|hyperimmunoglobulin G1(A1) syndrome	http://purl.obolibrary.org/obo/MONDO_0007755	UMLS:C1840429|http://identifiers.org/mesh/C564173|https://omim.org/entry/144120	
MONDO:0007756	biolink:Disease	hyperkeratosis lenticularis perstans		UMLS:C0263420|MESH:C538377|MedDRA:10071311|GARD:0002824|Orphanet:409|HP:0007570|SCTID:28488007|OMIM:144150	mondo.json	Flegel's disease|hyperkeratosis lenticularis perstans|hyperkeratosis lenticularis perstans of Flegel|hyperkeratosis lenticularis perstans (disease)|HLP|Flegel disease	http://purl.obolibrary.org/obo/MONDO_0007756	UMLS:C0263420|https://omim.org/entry/144150|http://identifiers.org/mesh/C538377|Orphanet:409|http://identifiers.org/snomedct/28488007	ordo_disease
MONDO:0032712	biolink:Disease	combined oxidative phosphorylation deficiency 38		DOID:0111466|OMIM:618378	mondo.json	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38|COXPD38	http://purl.obolibrary.org/obo/MONDO_0032712	https://omim.org/entry/618378|DOID:0111466	
MONDO:0007753	biolink:Disease	Frey syndrome	An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)	GARD:0006467|MESH:D013547|SCTID:238758008|DOID:11599|EFO:1000940|OMIM:144100	mondo.json	Frey syndrome|auriculotemporal nerve syndrome|hyperhidrosis gustatory|Baillarger syndrome|hyperhidrosis, gustatory|Frey's syndrome|gustatory hyperhidrosis|gustatory sweating|HYPRG	http://purl.obolibrary.org/obo/MONDO_0007753	DOID:11599|http://identifiers.org/snomedct/238758008|http://identifiers.org/mesh/D013547|https://omim.org/entry/144100	
NCBITaxon:44534	biolink:OrganismalEntity	Cellia		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_44534		
MONDO:0007754	biolink:Disease	hyperhidrosis palmaris ET plantaris		OMIM:144110|UMLS:C1274743|MESH:C563185	mondo.json	hyperhidrosis palmaris ET plantaris|hyperhidrosis, primary palmar|HYPRPP	http://purl.obolibrary.org/obo/MONDO_0007754	UMLS:C1274743|https://omim.org/entry/144110|http://identifiers.org/mesh/C563185	
MONDO:0007751	biolink:Disease	hypercholesterolemia, autosomal dominant, type B		OMIM:144010|SCTID:238081000	mondo.json	hypercholesterolemia, familial, due to ligand-defective apolipoprotein B|hypercholesterolemia, familial, 2|hypercholesterolemia, autosomal dominant, type B|apolipoprotein B-100, familial ligand-defective|apolipoprotein B-100, familial defective	http://purl.obolibrary.org/obo/MONDO_0007751	http://identifiers.org/snomedct/238081000|https://omim.org/entry/144010	
MONDO:0044700	biolink:Disease	SIN3A-related intellectual disability syndrome due to a point mutation		OMIM:613406|Orphanet:500166	mondo.json		http://purl.obolibrary.org/obo/MONDO_0044700	Orphanet:500166	ordo_etiological_subtype
MONDO:0007752	biolink:Disease	hyperheparinemia		MESH:C562723|UMLS:C3203346|ICD9:286.5|SCTID:79674009|OMIM:144050	mondo.json	hyperheparinemia	http://purl.obolibrary.org/obo/MONDO_0007752	http://identifiers.org/mesh/C562723|http://identifiers.org/snomedct/79674009|UMLS:C3203346|https://omim.org/entry/144050	
MONDO:0007750	biolink:Disease	hypercholesterolemia, familial, 1		OMIM:143890|SCTID:398036000	mondo.json	hypercholesterolemia, susceptibility to|hypercholesterolemia, familial, 1|hypercholesterolemia, familial, due to ldlr defect, modifier of|FHCL1|low density lipoprotein cholesterol level quantitative trait locus 2|hypercholesterolemia, familial, modifier of|hypercholesterolemic xanthomatosis, familial|LDL cholesterol level QTL2|hyperlipoproteinemia, type 2|hypercholesterolemia, familial|hyper-low-density-lipoproteinemia|LDL receptor disorder|FHC|hyperlipoproteinemia, type 2A	http://purl.obolibrary.org/obo/MONDO_0007750	https://omim.org/entry/143890|http://identifiers.org/snomedct/398036000	
NCBITaxon:68525	biolink:OrganismalEntity	delta/epsilon subdivisions		PMID:11837318|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_68525		
MONDO:0019728	biolink:Disease	heavy chain deposition disease		UMLS:C1333947|UMLS:CN206635|NCIT:C7339|Orphanet:93556	mondo.json	HCDD	http://purl.obolibrary.org/obo/MONDO_0019728	NCIT:C7339|UMLS:CN206635|Orphanet:93556|UMLS:C1333947	ordo_clinical_subtype
MONDO:0020706	biolink:Disease	Heberden's node	Osteophytes that most commonly develop on the distal interphalangeal joints, often in the setting of osteoarthritis.	SCTID:239869009|NCIT:C34671	mondo.json	tuberculum arthriticum|Heberden's node	http://purl.obolibrary.org/obo/MONDO_0020706	NCIT:C34671|http://identifiers.org/snomedct/239869009	
MONDO:0020705	biolink:Disease	neural tube defects, susceptibility to		OMIM:182940	mondo.json	NTD|spina bifida|neural tube defects|neural tube defects, SUSCEPTIBILITY to|spina bifida, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020705	https://omim.org/entry/182940	predisposition
MONDO:0019727	biolink:Disease	mixed cryoglobulinemia type III	Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs.	ICD10CM:D89.1|UMLS:CN206634|Orphanet:93555	mondo.json	MC type III	http://purl.obolibrary.org/obo/MONDO_0019727	UMLS:CN206634|Orphanet:93555	ordo_etiological_subtype
FOODON:00001002	biolink:NamedThing	food product	Food material for humans and animals which is processed with the intention that it be consumable as a whole or added to other food products.		mondo.json		http://purl.obolibrary.org/obo/FOODON_00001002		
MONDO:0020704	biolink:Disease	inherited rippling muscle disease	A rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.	MedDRA:10069417|GARD:0009164	mondo.json	RMD|rippling muscle disease	http://purl.obolibrary.org/obo/MONDO_0020704		ordo_disease|gard_rare
HP:0002023	biolink:PhenotypicFeature	Anal atresia	Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.	Fyler:4443|SNOMEDCT_US:204731006|MSH:D001006|MEDDRA:10002120|UMLS:C0003466|SNOMEDCT_US:204712000|Fyler:4402	mondo.json	Imperforate anus|Absent anus	http://purl.obolibrary.org/obo/HP_0002023		hposlim_core
HP:0002024	biolink:PhenotypicFeature	Malabsorption	Impaired ability to absorb one or more nutrients from the intestine.	UMLS:C3714745	mondo.json	Intestinal malabsorption|Malabsorption	http://purl.obolibrary.org/obo/HP_0002024		
MONDO:0019729	biolink:Disease	light and heavy chain deposition disease		UMLS:CN206636|Orphanet:93557	mondo.json	LHCDD	http://purl.obolibrary.org/obo/MONDO_0019729	UMLS:CN206636|Orphanet:93557	ordo_clinical_subtype
MONDO:0020703	biolink:Disease	erythroid neoplasm		NCIT:C7064	mondo.json	erythroid tumor|erythroid neoplasm	http://purl.obolibrary.org/obo/MONDO_0020703	NCIT:C7064	
MONDO:0019724	biolink:Disease	secondary glomerular disease	Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established.	Orphanet:93551|UMLS:CN206631	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019724	UMLS:CN206631|Orphanet:93551	ordo_group_of_disorders|disease_grouping
CHEBI:33521	biolink:ChemicalSubstance	metal atom	An atom of an element that exhibits typical metallic properties, being typically shiny, with high electrical and thermal conductivity.		mondo.json	elemental metals|metal element|metal elements|elemental metal|metals	http://purl.obolibrary.org/obo/CHEBI_33521		
MONDO:0020702	biolink:Disease	autosomal dominant epidermolytic ichthyosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020702		
MONDO:0019723	biolink:Disease	disease of glomerular basement membrane		Orphanet:93550|UMLS:CN206630	mondo.json	basement membrane disease	http://purl.obolibrary.org/obo/MONDO_0019723	UMLS:CN206630|Orphanet:93550	ordo_group_of_disorders|disease_grouping
MONDO:0020701	biolink:Disease	brachydactyly type A1A		OMIM:112500	mondo.json	Farabee-type Brachydactyly|BDA1|BRACHYDACTYLY, type A1	http://purl.obolibrary.org/obo/MONDO_0020701		
HP:0002027	biolink:PhenotypicFeature	Abdominal pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.	UMLS:C0000737|MEDDRA:10000081|SNOMEDCT_US:21522001|MSH:D015746	mondo.json	Upset stomach|Gastrointestinal pain|Abdominal discomfort|Pain in stomach|Stomach pain|Abdominal pain|Gastro pain	http://purl.obolibrary.org/obo/HP_0002027		hposlim_core
MONDO:0020700	biolink:Disease	obsolete microcephaly, short stature, and impaired glucose metabolism			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020700		
MONDO:0019726	biolink:Disease	type II mixed cryoglobulinemia	Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody).	UMLS:CN206633|ICD10CM:D89.1|Orphanet:93554	mondo.json	MC type II	http://purl.obolibrary.org/obo/MONDO_0019726	UMLS:CN206633|Orphanet:93554	ordo_etiological_subtype
MONDO:0019725	biolink:Disease	pediatric systemic lupus erythematosus		Orphanet:93552	mondo.json	SLE, pediatric onset	http://purl.obolibrary.org/obo/MONDO_0019725	Orphanet:93552	ordo_disease
MONDO:0019720	biolink:Disease	non-syndromic renal or urinary tract malformation	A renal or urinary tract malformation that is not part of a larger syndrome.	Orphanet:93546|Orphanet:357506	mondo.json	nonsyndromic congenital anomaly of kidney and urinary tract|isolated renal or urinary tract malformation|isolated congenital anomaly of kidney and urinary tract|nonsyndromic renal or urinary tract malformation	http://purl.obolibrary.org/obo/MONDO_0019720	Orphanet:93546	ordo_group_of_disorders|disease_grouping
MONDO:0032721	biolink:Disease	spondyloepiphyseal dysplasia, kondo-fu type		OMIM:618392	mondo.json	SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE|Sed With Elevated Blood Lysosomal Enzymes|SEDKF	http://purl.obolibrary.org/obo/MONDO_0032721	https://omim.org/entry/618392	
MONDO:0019722	biolink:Disease	glomerular disorder	A disease involving the renal glomerulus.	GTR:AN0966176|NCIT:C120887|SCTID:197679002|ICD10CM:N00-N08|Orphanet:93548|UMLS:CN580795	mondo.json	renal glomerulus disease or disorder|disorder of renal glomerulus|disease of renal glomerulus|glomerulopathies|disease or disorder of renal glomerulus|glomerulopathy|renal glomerulus disease	http://purl.obolibrary.org/obo/MONDO_0019722	NCIT:C120887|http://identifiers.org/snomedct/197679002|Orphanet:93548|UMLS:CN580795|http://purl.bioontology.org/ontology/ICD10CM/N00-N08	ordo_group_of_disorders|disease_grouping
MONDO:0019721	biolink:Disease	obsolete syndromic renal or urinary tract malformation	OBSOLETE. A renal or urinary tract malformation that is part of a larger syndrome.	UMLS:CN227683|Orphanet:93547	mondo.json	syndromic renal or urinary tract malformation|syndromic congenital anomaly of kidney and urinary tract|syndrome associated with congenital anomaly of kidney and urinary tract	http://purl.obolibrary.org/obo/MONDO_0019721	Orphanet:93547|UMLS:CN227683	ordo_group_of_disorders
MONDO:0020709	biolink:Disease	Majocchi granuloma	An inflammatory and granulomatous, dermatophytic infection that is classified into two forms, depending on the affected individual’s health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities.		mondo.json	Majocchi's granuloma	http://purl.obolibrary.org/obo/MONDO_0020709		
MONDO:0020708	biolink:Disease	brachial amyotrophic diplegia	A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction.	NCIT:C133085	mondo.json	brachial amyotrophic diplegia|flail arm syndrome|man-in-barrel syndrome|BAD|FAS	http://purl.obolibrary.org/obo/MONDO_0020708	NCIT:C133085	
MONDO:0020707	biolink:Disease	central hearing loss	Hearing loss resulting from disorders of the central nervous system auditory pathways.	NCIT:C34662	mondo.json	central hearing loss	http://purl.obolibrary.org/obo/MONDO_0020707	NCIT:C34662	
MONDO:0007728	biolink:Disease	acne inversa, familial, 1	Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene.	OMIM:142690|UMLS:CN028850	mondo.json	ACNINV1|acne inversa, familial|hidradenitis suppurativa, familial|acne inversa, familial, 1|NCSTN familial acne inversa|acne inversa, familial, type 1|familial acne inversa caused by mutation in NCSTN	http://purl.obolibrary.org/obo/MONDO_0007728	UMLS:CN028850|https://omim.org/entry/142690	
MONDO:0032728	biolink:Disease	Charcot-Marie-Tooth disease, axonal, type 2EE		DOID:0111559|OMIM:618400	mondo.json	Charcot-Marie-Tooth Neuropathy, Type 2Ee|CMT2EE|CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE	http://purl.obolibrary.org/obo/MONDO_0032728	https://omim.org/entry/618400|DOID:0111559	
MONDO:0007729	biolink:Disease	developmental dysplasia of the hip 1		OMIM:142700	mondo.json	hip dysplasia, congenital|DDH1|hip dysplasia, developmental|developmental dysplasia of the hip 1|acetabular dysplasia	http://purl.obolibrary.org/obo/MONDO_0007729	https://omim.org/entry/142700	prototype_pattern
MONDO:0032729	biolink:Disease	intellectual developmental disorder, autosomal recessive 70		OMIM:618402	mondo.json	Mental Retardation, Autosomal Recessive 70|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70|MRT70	http://purl.obolibrary.org/obo/MONDO_0032729	https://omim.org/entry/618402	
MONDO:0032726	biolink:Disease	combined oxidative phosphorylation deficiency 39		OMIM:618397|Orphanet:565624|DOID:0111475	mondo.json	COXPD39|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39	http://purl.obolibrary.org/obo/MONDO_0032726	https://omim.org/entry/618397|DOID:0111475|Orphanet:565624	
MONDO:0007726	biolink:Disease	hip dysplasia, Beukes type	Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.	Orphanet:2114|OMIM:142669|MESH:C564185|DOID:0111367|GARD:0002690|SCTID:721148005	mondo.json	BHD|osteoarthropathy, premature degenerative, of hip|Beukes hip dysplasia|BFHD|hip dysplasia, Beukes type|premature degenerative osteoarthropathy of the hip|Cilliers-Beighton syndrome|hip dysplasia Beukes type|Beukes familial hip dysplasia	http://purl.obolibrary.org/obo/MONDO_0007726	http://identifiers.org/snomedct/721148005|DOID:0111367|http://identifiers.org/mesh/C564185|https://omim.org/entry/142669|Orphanet:2114	ordo_disease
MONDO:0007727	biolink:Disease	autosomal dominant familial periodic fever	Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis.	MESH:C536657|Orphanet:32960|OMIM:142680|GARD:0008457|SCTID:403833009|DOID:0090018|NCIT:C119051	mondo.json	Hibernian fever, familial|TNF receptor-associated periodic fever syndrome|periodic FEVER, familial, autosomal dominant|tumor necrosis factor receptor 1 associated periodic syndrome|TNF receptor-associated periodic syndrome|TNF receptor 1-associated periodic syndrome|tumor necrosis factor receptor-associated periodic syndrome|TRAPS|TRAPS syndrome|tumor necrosis factor receptor 1-associated periodic syndrome|familial Hibernian fever|FHF|FPF	http://purl.obolibrary.org/obo/MONDO_0007727	Orphanet:32960|http://identifiers.org/mesh/C536657|DOID:0090018|NCIT:C119051|https://omim.org/entry/142680|http://identifiers.org/snomedct/403833009	ordo_disease
MONDO:0032724	biolink:Disease	spondyloepimetaphyseal dysplasia with joint laxity, type 3		DOID:0112200|OMIM:618395	mondo.json	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3|SEMDJL3	http://purl.obolibrary.org/obo/MONDO_0032724	https://omim.org/entry/618395|DOID:0112200	
MONDO:0007724	biolink:Disease	hirsutism-skeletal dysplasia-intellectual disability syndrome		UMLS:C0795976|OMIM:142625|GARD:0005566|Orphanet:2156|MESH:C536705	mondo.json	hirsutism skeletal dysplasia mental retardation syndrome|Wiedemann-Oldigs-Oppermann syndrome|hirsutism, skeletal dysplasia, and intellectual disability|Wiedemann Oldigs Oppermann syndrome|hirsutism, skeletal dysplasia, and mental retardation|hirsutism skeletal dysplasia intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0007724	UMLS:C0795976|http://identifiers.org/mesh/C536705|https://omim.org/entry/142625|Orphanet:2156	ordo_malformation_syndrome
MONDO:0007725	biolink:Disease	hereditary progressive mucinous histiocytosis	Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis.	Orphanet:158025|MESH:C564186|OMIM:142630|UMLS:C1840586	mondo.json	histiocytosis, progressive mucinous	http://purl.obolibrary.org/obo/MONDO_0007725	http://identifiers.org/mesh/C564186|Orphanet:158025|UMLS:C1840586|https://omim.org/entry/142630	ordo_disease
MONDO:0032725	biolink:Disease	developmental and epileptic encephalopathy, 74		OMIM:618396	mondo.json	DEE74|EIEE74|epileptic encephalopathy, early infantile, 74|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74|developmental and epileptic encephalopathy 74	http://purl.obolibrary.org/obo/MONDO_0032725	https://omim.org/entry/618396	
MONDO:0007722	biolink:Disease	heterochromia iridis		MESH:C538115|HP:0001100|OMIM:142500	mondo.json	heterochromia iridis (disease)|heterochromia iridis	http://purl.obolibrary.org/obo/MONDO_0007722	https://omim.org/entry/142500|http://identifiers.org/mesh/C538115	
MONDO:0007723	biolink:Disease	Hirschsprung disease, susceptibility to, 1	Any Hirschsprung disease in which the cause of the disease is a mutation in the RET gene.	OMIM:142623|UMLS:C2931876	mondo.json	megacolon, aganglionic|susceptibility to Hirschsprung disease 1|HSCR1|aganglionic megacolon|RET Hirschsprung disease|Hirschsprung disease, susceptibility to, 1|Hirschsprung disease, protection against|Hirschsprung disease caused by mutation in RET|Hirschsprung disease, susceptibility to, type 1|Hirschsprung disease	http://purl.obolibrary.org/obo/MONDO_0007723	UMLS:C2931876|https://omim.org/entry/142623	predisposition
MONDO:0032723	biolink:Disease	immunodeficiency 60		OMIM:618394	mondo.json	immunodeficiency 60 and autoimmunity|Immunodeficiency and Autoimmunity, Bach2-Related|IMMUNODEFICIENCY 60|IMD60	http://purl.obolibrary.org/obo/MONDO_0032723	https://omim.org/entry/618394	
MONDO:0007720	biolink:Disease	hernia, double inguinal		MESH:C563164|UMLS:C0860251|OMIM:142350	mondo.json	hernia, double inguinal	http://purl.obolibrary.org/obo/MONDO_0007720	http://identifiers.org/mesh/C563164|https://omim.org/entry/142350|UMLS:C0860251	
MONDO:0007721	biolink:Disease	hiatus hernia	Herniation of the upper part of the stomach through the diaphragm.	MESH:D006551|NCIT:C98945|HP:0002036|DOID:12642|SCTID:84089009|OMIM:142400	mondo.json	diaphragmatic - hiatus -hernia|hiatal hernia|hiatus hernia|hernia, hiatus|hiatus hernia (disease)	http://purl.obolibrary.org/obo/MONDO_0007721	http://identifiers.org/mesh/D006551|DOID:12642|NCIT:C98945|https://omim.org/entry/142400|http://identifiers.org/snomedct/84089009	
MONDO:0044710	biolink:Disease	lip and oral cavity squamous cell carcinoma	A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes.	NCIT:C42690|Orphanet:502369|UMLS:C0280297	mondo.json	lip/oral cavity squam. cell car.|lip and oral cavity squamous cell cancer|squamous cell carcinoma of oral cavity and lip|lip and oral cavity squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0044710	Orphanet:502369|UMLS:C0280297|NCIT:C42690	disease_grouping|ordo_group_of_disorders
CHR:9606-chr17p1	biolink:NamedThing	17p1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr17p1		
MONDO:0019709	biolink:Disease	obsolete cleidocranial dysplasia and isolated cranial ossification defect		Orphanet:93451	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019709	Orphanet:93451	ordo_group_of_disorders|disease_grouping
MONDO:0019717	biolink:Disease	obsolete chromosomal disease with overgrowth		UMLS:CN206622|Orphanet:93461	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019717	UMLS:CN206622|Orphanet:93461	ordo_group_of_disorders
MONDO:0019716	biolink:Disease	overgrowth syndrome	A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome.	UMLS:CN206621|UMLS:C2986703|Orphanet:93460|NCIT:C94828	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019716	NCIT:C94828|UMLS:CN206621|UMLS:C2986703|Orphanet:93460	disease_grouping|ordo_group_of_disorders
MONDO:0044705	biolink:Disease	paranasal sinus squamous cell carcinoma	A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid, frontal, maxillary, or sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.	NCIT:C8193|OMIM:275355|UMLS:C0280334|Orphanet:500464	mondo.json	squamous cell carcinoma of the paranasal sinus|squamous cell carcinoma of the nasal cavity and sinuses|squamous cell carcinoma of paranasal sinus|paranasal sinus epidermoid carcinoma|epidermoid carcinoma of the paranasal sinus|epidermoid carcinoma of paranasal sinus|paranasal sinus squamous cell carcinoma|squamous cell carcinoma of the nasal cavity and paranasal sinuses	http://purl.obolibrary.org/obo/MONDO_0044705	NCIT:C8193|UMLS:C0280334|Orphanet:500464	ordo_disease
MONDO:0019719	biolink:Disease	congenital anomaly of kidney and urinary tract	A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.	Orphanet:93545|UMLS:C1968949|MESH:C566906|DOID:0080205|OMIMPS:610805	mondo.json	congenital anomalies of the kidney and urinary tract|CAKUT|congenital anomaly of kidney and urinary tract|renal or urinary tract malformation|congenital anomalies of kidney and urinary tract	http://purl.obolibrary.org/obo/MONDO_0019719	DOID:0080205|https://omim.org/phenotypicSeries/PS610805|http://identifiers.org/mesh/C566906|UMLS:C1968949|Orphanet:93545	disease_grouping|ordo_group_of_disorders|clingen
NCBITaxon:379583	biolink:OrganismalEntity	Feliformia		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_379583		
GO:0140241	biolink:NamedThing	translation at synapse	Translation that occurs at the synapse.		mondo.json		http://purl.obolibrary.org/obo/GO_0140241		
MONDO:0019718	biolink:Disease	lethal chondrodysplasia		Orphanet:93465	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019718	Orphanet:93465	disease_grouping|ordo_group_of_disorders
NCBITaxon:379584	biolink:OrganismalEntity	Caniformia		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_379584		
MONDO:0019713	biolink:Disease	non-syndromic limb reduction defect		Orphanet:93457	mondo.json	nonsyndromic limb reduction defect|non-syndromic limb hypoplasia|isolated limb reduction defect	http://purl.obolibrary.org/obo/MONDO_0019713	Orphanet:93457	ordo_group_of_disorders|disease_grouping
MONDO:0044702	biolink:Disease	X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome		OMIM:301018|DOID:0111738|Orphanet:500188	mondo.json	deafness, X-linked 7, X-linked recessive|DFNX7|deafness, X-linked 7	http://purl.obolibrary.org/obo/MONDO_0044702	Orphanet:500188|https://omim.org/entry/301018|DOID:0111738	ordo_malformation_syndrome
GO:0140243	biolink:NamedThing	regulation of translation at synapse	Any process that regulates translation occurring at the synapse.		mondo.json		http://purl.obolibrary.org/obo/GO_0140243		
MONDO:0019712	biolink:Disease	patellar dysostosis		Orphanet:93455	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019712	Orphanet:93455	ordo_group_of_disorders|disease_grouping
MONDO:0044701	biolink:Disease	childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder		Orphanet:500180|OMIM:617672|UMLS:CN469330	mondo.json	CONDBA|UBTF-related disorder|neurodegeneration, childhood-onset, with brain atrophy	http://purl.obolibrary.org/obo/MONDO_0044701	https://omim.org/entry/617672|Orphanet:500180|UMLS:CN469330	ordo_disease
GO:0140242	biolink:NamedThing	translation at postsynapse	Translation that occurs at the postsynapse.		mondo.json		http://purl.obolibrary.org/obo/GO_0140242		
MONDO:0019715	biolink:Disease	obsolete syndrome with synostosis or other joint formation defect			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019715		ordo_group_of_disorders
MONDO:0044704	biolink:Disease	oropharynx squamous cell carcinoma	A squamous cell carcinoma that involves the oropharynx.	NCIT:C8181|ONCOTREE:OPHSC|Orphanet:500478|OMIM:275355	mondo.json	squamous cell carcinoma of the oropharynx|squamous cell carcinoma of oropharynx|oropharyngeal epidermoid carcinoma|oropharyngeal squamous cell carcinoma|oropharyngeal throat squamous cell cancer|epidermoid carcinoma of oropharynx|epidermoid carcinoma of the oropharynx	http://purl.obolibrary.org/obo/MONDO_0044704	NCIT:C8181|Orphanet:500478	ordo_disease
NCIT:C12664	biolink:NamedThing	Abdomen			mondo.json		http://purl.obolibrary.org/obo/NCIT_C12664		http://purl.obolibrary.org/obo/NCIT_C159008|http://purl.obolibrary.org/obo/NCIT_C159093|http://purl.obolibrary.org/obo/NCIT_C159072|http://purl.obolibrary.org/obo/NCIT_C159120|http://purl.obolibrary.org/obo/NCIT_C159117|http://purl.obolibrary.org/obo/NCIT_C159111|http://purl.obolibrary.org/obo/NCIT_C66830|http://purl.obolibrary.org/obo/NCIT_C77526|http://purl.obolibrary.org/obo/NCIT_C77529|http://purl.obolibrary.org/obo/NCIT_C157711|http://purl.obolibrary.org/obo/NCIT_C74456|http://purl.obolibrary.org/obo/NCIT_C61410
GO:0140245	biolink:NamedThing	regulation of translation at postsynapse	Any process that regulates translation occurring at the postsynapse.		mondo.json		http://purl.obolibrary.org/obo/GO_0140245		
MONDO:0019714	biolink:Disease	non-syndromic polydactyly, syndactyly and/or hyperphalangy		Orphanet:93458	mondo.json	isolated polydactyly, syndactyly and/or hyperphalangy|nonsyndromic polydactyly, syndactyly and/or hyperphalangy	http://purl.obolibrary.org/obo/MONDO_0019714	Orphanet:93458	ordo_group_of_disorders|disease_grouping
GO:0140244	biolink:NamedThing	regulation of translation at presynapse	Any process that regulates translation occurring at the presynapse.		mondo.json		http://purl.obolibrary.org/obo/GO_0140244		
FOODON:00001015	biolink:NamedThing	plant food product	This class includes food products which are derived from or produced by a plant.		mondo.json		http://purl.obolibrary.org/obo/FOODON_00001015		
MONDO:0032732	biolink:Disease	hearing loss, autosomal recessive 113		DOID:0111636|OMIM:618410	mondo.json	deafness, autosomal recessive 113|DFNB113	http://purl.obolibrary.org/obo/MONDO_0032732	https://omim.org/entry/618410|DOID:0111636	
MONDO:0019711	biolink:Disease	obsolete dysostosis with predominant vertebral and costal involvement		Orphanet:93454	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019711	Orphanet:93454	disease_grouping|ordo_group_of_disorders
MONDO:0032730	biolink:Disease	leukodystrophy, hypomyelinating, 18		OMIM:618404	mondo.json	HLD18|LEUKODYSTROPHY, HYPOMYELINATING, 18	http://purl.obolibrary.org/obo/MONDO_0032730	https://omim.org/entry/618404	
MONDO:0019710	biolink:Disease	obsolete dysostosis with predominant craniofacial involvement			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019710		disease_grouping|ordo_group_of_disorders
MONDO:0044709	biolink:Disease	cochleovestibular dysplasia		Orphanet:502305	mondo.json		http://purl.obolibrary.org/obo/MONDO_0044709	Orphanet:502305	ordo_morphological_anomaly
MONDO:0007719	biolink:Disease	diaphragmatic hernia, congenital 1		OMIM:142340	mondo.json	hernia, congenital diaphragmatic|diaphragmatic hernia 1|hemidiaphragm, agenesis of|hernia, congenital diaphragmatic 1|diaphragm, complete agenesis of|diaphragm, unilateral agenesis of|DIH1|diaphragmatic hernia, congenital|diaphragmatic defect, congenital	http://purl.obolibrary.org/obo/MONDO_0007719	https://omim.org/entry/142340	prototype_pattern
MONDO:0032739	biolink:Disease	spermatogenic failure 36		OMIM:618420	mondo.json	SPGF36|SPERMATOGENIC FAILURE 36	http://purl.obolibrary.org/obo/MONDO_0032739	https://omim.org/entry/618420	
MONDO:0007739	biolink:Disease	Huntington disease	Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.	ICD9:333.4|Orphanet:399|DOID:12858|MESH:D006816|NCIT:C82342|UMLS:C0020179|MedDRA:10070668|GARD:0006677|SCTID:58756001|OMIM:143100|KEGG:05016	mondo.json	Huntington's chorea|Huntington's disease|Huntington disease|HD|Huntington chorea	http://purl.obolibrary.org/obo/MONDO_0007739	Orphanet:399|https://omim.org/entry/143100|http://identifiers.org/mesh/D006816|DOID:12858|http://identifiers.org/snomedct/58756001|UMLS:C0020179|NCIT:C82342	ordo_disease
MONDO:0007737	biolink:Disease	humeroradial synostosis	Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.	DOID:0060467|ICD9:755.59|Orphanet:3265|GARD:0002748|SCTID:205329008|HP:0003041|OMIM:143050	mondo.json	humeroradial synostosis|humeroradial synostosis (disease)|humero-radial fusion|humero-radial synostosis	http://purl.obolibrary.org/obo/MONDO_0007737	https://omim.org/entry/143050|DOID:0060467|Orphanet:3265|http://identifiers.org/snomedct/205329008	ordo_morphological_anomaly
MONDO:0032737	biolink:Disease	spastic paraplegia 80, autosomal dominant		OMIM:618418	mondo.json	SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT|SPG80	http://purl.obolibrary.org/obo/MONDO_0032737	https://omim.org/entry/618418	
MONDO:0007738	biolink:Disease	spondyloepiphyseal dysplasia with congenital joint dislocations	CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.	GARD:0002533|ICD9:756.9|Orphanet:263463|SCTID:702400006|OMIM:143095|DOID:0050813|MESH:C537283	mondo.json	chondrodysplasia with multiple dislocations|spondyloepiphyseal dysplasia, Omani type|SDCD, CHST3 type|humero-spinal dysostosis with congenital heart disease|Kozlowski Celermajer tink syndrome|chondrodysplasia with congenital joint dislocations, CHST3 type|spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type|spondyloepiphyseal dysplasia with congenital joint dislocations|CHST3-related skeletal dysplasia|spondyloepiphyseal dysplasia with congenital JOINT dislocations|Gollop Coates syndrome|spondyloepiphyseal dysplasia|SEDCJD|Omani type|Humerospinal dysostosis|bifurcation of distal humerus with oligoectro-syndactyly	http://purl.obolibrary.org/obo/MONDO_0007738	DOID:0050813|https://omim.org/entry/143095|http://identifiers.org/snomedct/702400006|Orphanet:263463|http://identifiers.org/mesh/C537283	gard_rare|ordo_disease
MONDO:0032738	biolink:Disease	gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy		OMIM:618419	mondo.json	GDRM|GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY	http://purl.obolibrary.org/obo/MONDO_0032738	https://omim.org/entry/618419	
MONDO:0007735	biolink:Disease	congenital Horner syndrome	Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported.	MESH:C564178|HP:0006837|Orphanet:91413|UMLS:C1840475|OMIM:143000	mondo.json	HORNER syndrome, congenital|congenital Horner syndrome|congenital Horner syndrome (disease)|congenital Claude-Bernard-Horner syndrome	http://purl.obolibrary.org/obo/MONDO_0007735	http://identifiers.org/mesh/C564178|https://omim.org/entry/143000|UMLS:C1840475|Orphanet:91413	ordo_disease
MONDO:0032735	biolink:Disease	cataract 48		DOID:0070354|OMIM:618415	mondo.json	CATARACT 48|CTRCT48	http://purl.obolibrary.org/obo/MONDO_0032735	https://omim.org/entry/618415|DOID:0070354	
MONDO:0007736	biolink:Disease	HPA 1 Recognition polymorphism, beta-globin-related		OMIM:143020	mondo.json	restriction fragment length polymorphism, sickle cell Anemia-related|HPA1|HPA I RECOGNITION polymorphism, BETA-globin-RELATED|HPA I RECOGNITION polymorphism, BETA-globin-related	http://purl.obolibrary.org/obo/MONDO_0007736	https://omim.org/entry/143020	
MONDO:0032736	biolink:Disease	metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression		OMIM:618416	mondo.json	METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION|MECREN	http://purl.obolibrary.org/obo/MONDO_0032736	https://omim.org/entry/618416	
MONDO:0007733	biolink:Disease	holoprosencephaly 3	Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene.	OMIM:142945|DOID:0110875|MESH:C564181|UMLS:C1840529	mondo.json	SHH holoprosencephaly|Shh holoprosencephaly|HPE3|holoprosencephaly 3|holoprosencephaly caused by mutation in Shh|holoprosencephaly caused by mutation in SHH|HLP3|Hlp3|holoprosencephaly type 3	http://purl.obolibrary.org/obo/MONDO_0007733	http://identifiers.org/mesh/C564181|DOID:0110875|UMLS:C1840529|https://omim.org/entry/142945	
MONDO:0032733	biolink:Disease	global developmental delay, progressive ataxia, and elevated glutamine		OMIM:618412	mondo.json	GDPAG|GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE|Glutaminase Deficiency With Impaired Intellectual Development and Progressive Ataxia	http://purl.obolibrary.org/obo/MONDO_0032733	https://omim.org/entry/618412	
UBERON:0016570	biolink:AnatomicalEntity	lamina of gray matter of spinal cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016570		
MONDO:0007734	biolink:Disease	holoprosencephaly 4	A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.	UMLS:C1840528|OMIM:142946|MESH:C564180|DOID:0110880|NCIT:C75475	mondo.json	TGIF1 holoprosencephaly|holoprosencephaly 4|holoprosencephaly type 4|holoprosencephaly caused by mutation in TGIF1|HPE4	http://purl.obolibrary.org/obo/MONDO_0007734	NCIT:C75475|http://identifiers.org/mesh/C564180|DOID:0110880|UMLS:C1840528|https://omim.org/entry/142946	
MONDO:0007731	biolink:Disease	obsolete HLA modifier		OMIM:142770	mondo.json	HLA modifier	http://purl.obolibrary.org/obo/MONDO_0007731	https://omim.org/entry/142770	
MONDO:0044720	biolink:Disease	cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome		OMIM:614575|UMLS:C3281223|Orphanet:504476	mondo.json	CANVAS|cerebellar ataxia with bilateral vestibulopathy syndrome|CABV syndrome|cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	http://purl.obolibrary.org/obo/MONDO_0044720	UMLS:C3281223|https://omim.org/entry/614575|Orphanet:504476	ordo_disease
GO:0140236	biolink:NamedThing	translation at presynapse	Translation that occurs at the presynapse.		mondo.json		http://purl.obolibrary.org/obo/GO_0140236		
MONDO:0007732	biolink:Disease	Holt-Oram syndrome	Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.	NCIT:C125592|GARD:0006666|MedDRA:10050469|MESH:C535326|ICD9:759.89|DOID:0060468|OMIM:142900|UMLS:C0265264|SCTID:19092004|Orphanet:392	mondo.json	Holt-Oram syndrome|atriodigital dysplasia|atriodigital dysplasia type 1|heart-hand syndrome type 1|atrio digital syndrome|Cardiac-limb syndrome|HOS 1|heart-hand syndrome, type 1|ventriculo-radial syndrome|heart-hand syndrome|HOS|Hos1|atrio-digital syndrome|HOLT-Oram syndrome	http://purl.obolibrary.org/obo/MONDO_0007732	http://identifiers.org/mesh/C535326|DOID:0060468|http://identifiers.org/snomedct/19092004|NCIT:C125592|https://omim.org/entry/142900|UMLS:C0265264|Orphanet:392	ordo_malformation_syndrome
CHEBI:33504	biolink:ChemicalSubstance	alkali metal cation			mondo.json	alkali metal cations	http://purl.obolibrary.org/obo/CHEBI_33504		
GO:0140238	biolink:NamedThing	presynaptic endocytosis	A vesicle-mediated transport process in which the presynapse take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.		mondo.json		http://purl.obolibrary.org/obo/GO_0140238		
MONDO:0044721	biolink:Disease	severe combined immunodeficiency due to LAT deficiency		UMLS:C4479588|OMIM:617514|Orphanet:504523	mondo.json	SCID due to LAT deficiency|immunodeficiency 52|IMD52	http://purl.obolibrary.org/obo/MONDO_0044721	UMLS:C4479588|https://omim.org/entry/617514|Orphanet:504523	ordo_disease
CHR:9606-chr17q1	biolink:NamedThing	17q1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr17q1		
MONDO:0007730	biolink:Disease	histiocytic dermatoarthritis		MESH:C564183|OMIM:142730|UMLS:C1840551	mondo.json	histiocytic dermatoarthritis	http://purl.obolibrary.org/obo/MONDO_0007730	UMLS:C1840551|https://omim.org/entry/142730|http://identifiers.org/mesh/C564183	
GO:0140237	biolink:NamedThing	translation at presynapse, modulating chemical synaptic transmission	Translation that occurs at the presynapse, and that modulates chemical synaptic transmission.		mondo.json		http://purl.obolibrary.org/obo/GO_0140237		
CHR:9606-chr17q2	biolink:NamedThing	17q2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr17q2		
GO:0140239	biolink:NamedThing	postsynaptic endocytosis	A vesicle-mediated transport process in which the postsynapse take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.		mondo.json		http://purl.obolibrary.org/obo/GO_0140239		
MONDO:0019706	biolink:Disease	obsolete lysosomal storage disease with skeletal involvement			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019706		ordo_group_of_disorders
MONDO:0044717	biolink:Disease	4q25 proximal deletion syndrome		Orphanet:502437	mondo.json	proximal del(4)(q25)|proximal monosomy 4q25	http://purl.obolibrary.org/obo/MONDO_0044717	Orphanet:502437	ordo_malformation_syndrome
MONDO:0019705	biolink:Disease	obsolete primary bone dysplasia with defective bone mineralization		Orphanet:93447	mondo.json	primary osteodysplasia with defective bone mineralization|primary skeletal dysplasia with defective bone mineralization	http://purl.obolibrary.org/obo/MONDO_0019705	Orphanet:93447	ordo_group_of_disorders
MONDO:0044716	biolink:Disease	obsolete STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0044716		
MONDO:0019708	biolink:Disease	obsolete primary bone dysplasia with disorganized development of skeletal components			mondo.json	primary osteodysplasia with disorganized development of skeletal components|primary skeletal dysplasia with disorganized development of skeletal components	http://purl.obolibrary.org/obo/MONDO_0019708		ordo_group_of_disorders
MONDO:0044719	biolink:Disease	erythema multiforme major	A severe, sometimes life-threatening, form of erythema multiforme. It is considered to be a hypersensitivity skin reaction triggered by a variety of stimuli, including infections and medication. It is characterized by raised, edematous papules in the extremities; involvement of one or more mucous membranes; and epidermal detachment involving less than ten percent of the total body surface area.	NCIT:C3385|Orphanet:502499	mondo.json	erythema multiforme majus|erythema exsudativum multiforme majus	http://purl.obolibrary.org/obo/MONDO_0044719	NCIT:C3385|Orphanet:502499	ordo_disease
MONDO:0019707	biolink:Disease	primary osteolysis		Orphanet:93449	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019707	Orphanet:93449	disease_grouping|ordo_group_of_disorders
MONDO:0044718	biolink:Disease	alkaline ceramidase 3 deficiency		UMLS:CN603947|Orphanet:502444|OMIM:617762	mondo.json	leukodystrophy, progressive, early childhood-onset|ACER3-related early childhood-onset progressive leukodystrophy|PLDECO|leukodystrophy due to alkaline ceramidase 3 deficiency	http://purl.obolibrary.org/obo/MONDO_0044718	Orphanet:502444|https://omim.org/entry/617762|UMLS:CN603947	ordo_disease
MONDO:0019702	biolink:Disease	neonatal osteosclerotic dysplasia		Orphanet:93443|SCTID:389236000|UMLS:C1300205	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019702	http://identifiers.org/snomedct/389236000|UMLS:C1300205|Orphanet:93443	disease_grouping|ordo_group_of_disorders
UBERON:0004590	biolink:AnatomicalEntity	sphincter muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004590		
MONDO:0019701	biolink:Disease	chondrodysplasia punctata	A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.	UMLS:C0008445|Orphanet:93442|ICD10CM:Q77.3|ICD9:756.59|MESH:D002806|DOID:2581|NCIT:C84632|GARD:0008542|SCTID:360507004	mondo.json	CDP|chondrodysplasia calcificans congenita|chondrodysplasia punctata congenita|chondrodysplasia punctata (stippled epiphyses) Group	http://purl.obolibrary.org/obo/MONDO_0019701	UMLS:C0008445|http://identifiers.org/snomedct/360507004|DOID:2581|NCIT:C84632|Orphanet:93442|http://purl.bioontology.org/ontology/ICD10CM/Q77.3|http://identifiers.org/mesh/D002806	ordo_group_of_disorders|disease_grouping
MONDO:0019704	biolink:Disease	obsolete primary bone dysplasia with decreased bone density		Orphanet:93446	mondo.json	primary osteodysplasia with decreased bone density|primary skeletal dysplasia with decreased bone density	http://purl.obolibrary.org/obo/MONDO_0019704	Orphanet:93446	ordo_group_of_disorders
MONDO:0044715	biolink:Disease	metopic ridging-ptosis-facial dysmorphism syndrome		Orphanet:502430	mondo.json		http://purl.obolibrary.org/obo/MONDO_0044715	Orphanet:502430	ordo_malformation_syndrome
MONDO:0019703	biolink:Disease	obsolete primary bone dysplasia with increased bone density			mondo.json	primary osteodysplasia with increased bone density|sclerosing bone dysplasia|primary skeletal dysplasia with increased bone density	http://purl.obolibrary.org/obo/MONDO_0019703		ordo_group_of_disorders
MONDO:0044714	biolink:Disease	mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome		Orphanet:502423|UMLS:CN484737|OMIM:617675	mondo.json	myopathy, mitochondrial, and ataxia|MMYAT|mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome	http://purl.obolibrary.org/obo/MONDO_0044714	UMLS:CN484737|Orphanet:502423|https://omim.org/entry/617675	ordo_disease
MONDO:0032742	biolink:Disease	encephalopathy, acute, infection-induced, susceptibility to, 9		OMIM:618426	mondo.json	IIAE9|ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9	http://purl.obolibrary.org/obo/MONDO_0032742	https://omim.org/entry/618426	
MONDO:0032740	biolink:Disease	hearing loss, autosomal recessive 100		DOID:0111638|OMIM:618422	mondo.json	deafness, autosomal recessive 100|DFNB100	http://purl.obolibrary.org/obo/MONDO_0032740	DOID:0111638|https://omim.org/entry/618422	
MONDO:0019700	biolink:Disease	obsolete primary bone dysplasia with multiple joint dislocations			mondo.json	primary osteodysplasia with multiple joint dislocations|primary skeletal dysplasia with multiple joint dislocations	http://purl.obolibrary.org/obo/MONDO_0019700		ordo_group_of_disorders
MONDO:0032741	biolink:Disease	neurodevelopmental disorder with impaired speech and hyperkinetic movements		OMIM:618425	mondo.json	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS|NEDISHM	http://purl.obolibrary.org/obo/MONDO_0032741	https://omim.org/entry/618425	
MONDO:0005127	biolink:Disease	lepromatous leprosy	A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage.	ICD9:030.0|MESH:D015440|DOID:10887|SCTID:21560005|EFO:0001057|ICD10CM:A30.5|UMLS:C0023348	mondo.json	lepromatous leprosy [type L]|type L leprosy	http://purl.obolibrary.org/obo/MONDO_0005127	DOID:10887|http://identifiers.org/mesh/D015440|http://purl.bioontology.org/ontology/ICD10CM/A30.5|UMLS:C0023348|http://identifiers.org/snomedct/21560005	
MONDO:0005126	biolink:Disease	tuberculoid leprosy	A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others.	UMLS:C0023351|SCTID:70143003|DOID:1025|MESH:D015441|EFO:0001056|ICD9:030.1|ICD10CM:A30.1	mondo.json	type T leprosy|smooth leprosy|tuberculoid leprosy [type T]	http://purl.obolibrary.org/obo/MONDO_0005126	http://identifiers.org/mesh/D015441|http://purl.bioontology.org/ontology/ICD10CM/A30.1|http://identifiers.org/snomedct/70143003|UMLS:C0023351|DOID:1025	
MONDO:0005129	biolink:Disease	cataract	Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)	NCIT:C26713|ICD9:366.9|HP:0000518|ICD9:366|EFO:0001059|DOID:83|ICD9:366.8|OMIMPS:116200|MESH:D002386|SCTID:193570009|ICD9:366.44	mondo.json	opacity of the lens|cataract|cataract (disease)	http://purl.obolibrary.org/obo/MONDO_0005129	NCIT:C26713|DOID:83|http://identifiers.org/mesh/D002386|http://identifiers.org/snomedct/193570009|https://omim.org/phenotypicSeries/PS116200	
MONDO:0007788	biolink:Disease	hypertriglyceridemia, familial	An instance of hypertriglyceridemia (disease) that is caused by an inherited modification of the individual's genome.	SCTID:34528009|OMIM:145750	mondo.json	hypertriglyceridemia, susceptibility to|hypertriglyceridemia, familial|hereditary hypertriglyceridemia (disease)	http://purl.obolibrary.org/obo/MONDO_0007788	http://identifiers.org/snomedct/34528009|https://omim.org/entry/145750	
MONDO:0007789	biolink:Disease	hypertrophia musculorum vera		OMIM:145800|UMLS:C1840361|MESH:C564152	mondo.json	hypertrophia musculorum vera	http://purl.obolibrary.org/obo/MONDO_0007789	http://identifiers.org/mesh/C564152|https://omim.org/entry/145800|UMLS:C1840361	
MONDO:0005128	biolink:Disease	obsolete sensory system disease	OBSOLETE. A disease involving the sensory system.	DOID:0050155|EFO:0001058	mondo.json	sensory system disease or disorder|disorder of sensory system|disease or disorder of sensory system|disease of sensory system|sensory system disease|sensory disease	http://purl.obolibrary.org/obo/MONDO_0005128	DOID:0050155	
MONDO:0020764	biolink:Disease	Brown-Pearce carcinoma		UMLS:C0007122|MESH:D002284|EFO:1001278	mondo.json	Brown-Pearce tumor|Brown-Pearce carcinoma|epithelioma, Brown Pearce|epithelioma, Brown-Pearce|carcinoma, Brown Pearce|Brown-Pearce epithelioma|carcinoma, Brown-Pearce	http://purl.obolibrary.org/obo/MONDO_0020764	UMLS:C0007122|http://identifiers.org/mesh/D002284	
MONDO:0005123	biolink:Disease	obsolete Hibiscus chlorotic ringspot virus infection		EFO:0000782	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005123		
MONDO:0007786	biolink:Disease	obsolete hypertrichosis lanuginosa congenita			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007786		
MONDO:0005122	biolink:Disease	Pectobacterium carotovorum infection	A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as "bacterial soft rot" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30°C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens – Fe acquisition, LPS integrity, multiple global regulatory systems).	EFO:0000781|Wikipedia:Pectobacterium_carotovorum	mondo.json	Pectobacterium disease or disorder|Pectobacterium infectious disease|Pectobacterium caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005122		
MONDO:0007787	biolink:Disease	Ambras type hypertrichosis universalis congenita	Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.	UMLS:C1840362|Orphanet:1023|DOID:0111060|GARD:0008206|OMIM:145701	mondo.json	hypertrichosis universalis congenita Ambras type|HTC 1|hypertrichosis universalis congenita, Ambras type|Ambras syndrome|hypertrichosis, congenital generalized|congenital generalized hypertrichosis, Ambras type|HTC1	http://purl.obolibrary.org/obo/MONDO_0007787	Orphanet:1023|DOID:0111060|https://omim.org/entry/145701|UMLS:C1840362	ordo_clinical_subtype
MONDO:0020763	biolink:Disease	Menke-Hennekam syndrome 1		OMIM:618332	mondo.json	Menke-Hennekam syndrome 1|MKHK1	http://purl.obolibrary.org/obo/MONDO_0020763	https://omim.org/entry/618332	
MONDO:0005125	biolink:Disease	borderline leprosy	A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms.	SCTID:400154003|DOID:1023|EFO:0001055|UMLS:C3251797|MESH:D015439|UMLS:C0023346|ICD9:030.3|ICD10CM:A30.3	mondo.json	Midborderline leprosy|borderline or dimorphous leprosy|borderline leprosy [group B]	http://purl.obolibrary.org/obo/MONDO_0005125	UMLS:C3251797|http://identifiers.org/mesh/D015439|http://purl.bioontology.org/ontology/ICD10CM/A30.3|UMLS:C0023346|http://identifiers.org/snomedct/400154003|DOID:1023	
MONDO:0020762	biolink:Disease	diencephalic-mesencephalic junction dysplasia syndrome 2		OMIM:618646	mondo.json	DMJDS2|spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia	http://purl.obolibrary.org/obo/MONDO_0020762	https://omim.org/entry/618646	
MONDO:0007784	biolink:Disease	selective pituitary resistance to thyroid hormone	Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema.	DOID:0111374|OMIM:145650|UMLS:C1840364|MESH:C564154|Orphanet:165994	mondo.json	thyroid hormone resistance, selective pituitary|PRTH|pituitary resistance to thyroid hormone|hyperthyroidism, familial, due to inappropriate thyrotropin secretion	http://purl.obolibrary.org/obo/MONDO_0007784	http://identifiers.org/mesh/C564154|DOID:0111374|https://omim.org/entry/145650|UMLS:C1840364	ordo_disease
MONDO:0020761	biolink:Disease	Bowen disease of the skin	A form of squamous cell carcinoma in situ. It is a distinct clinicopathological entity and arises from the skin or the mucocutaneous junction. It affects predominantly white males in their 6-8th decades of life. Exposed and non-exposed skin sites are equally affected. UV damage and ingestion of inorganic arsenic may play a role in the development of the disease. On the skin surface, it presents as a single or multiple erythematous, scaly, keratotic patches or plaques. The clinical entity of erythroplasia of Queyrat is regarded as Bowen disease of the penis and it presents as an asymptomatic, red, circumscribed plaque. Morphologically, Bowen disease is characterized by the presence of hyperkeratosis, parakeratosis, dyskeratosis, and acanthosis. The keratotic squamous cells are atypical and display hyperchromatism and abnormal mitotic figures. The dermoepidermal basement membrane is intact. Complete surgical removal of the lesion may be curative.	MESH:D001913|GARD:0005948|ICDO:8081/2|NCIT:C62571|UMLS:C0006079	mondo.json	Disease, Bowen|Bowen disease of the skin|Disease, Bowen's|Bowen Disease|Bowens Disease|Bowen's disease of the skin|Bowen disease|intraepidermal squamous cell carcinoma, Bowen type	http://purl.obolibrary.org/obo/MONDO_0020761	NCIT:C62571|UMLS:C0006079|http://identifiers.org/mesh/D001913	gard_rare
MONDO:0005124	biolink:Disease	leprosy	Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system.	ICD9:030|ICD10CM:A30|MedDRA:10024229|Orphanet:548|NCIT:C84824|ICD9:030.9|ICD9:030.8|DOID:1024|EFO:0001054|SCTID:81004002|GARD:0006886|UMLS:C0023343|MESH:D007918	mondo.json	Mycobacterium leprae infectious disease|Mycobacterium leprae caused disease or disorder|Hansen disease|Hansen's disease|Mycobacterium leprae disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005124	NCIT:C84824|http://identifiers.org/snomedct/81004002|http://purl.bioontology.org/ontology/ICD10CM/A30|Orphanet:548|UMLS:C0023343|DOID:1024|http://identifiers.org/mesh/D007918	ordo_disease
MONDO:0007785	biolink:Disease	hyperthyroxinemia, dystransthyretinemic		UMLS:C2750824|OMIM:145680|MESH:C567719|DOID:0080219	mondo.json	dystransthyretinemic ethyroidal hyperthyroxinemia|hyperthyroxinemia, dystransthyretinemic|euthryroidal hyperthyroxinemia 2|dystransthyretinemic hyperthyroxinemia|hyperthyroxinemia, Dysprealbuminemic|DTTRH	http://purl.obolibrary.org/obo/MONDO_0007785	DOID:0080219|http://identifiers.org/mesh/C567719|https://omim.org/entry/145680|UMLS:C2750824	
MONDO:0020760	biolink:Disease	skin squamous cell carcinoma in situ	Intraepidermal squamous cell carcinoma, confined to the epidermis. There is no evidence of invasion.	NCIT:C2906	mondo.json	squamous cell carcinoma in situ of skin|intraepidermal squamous cell carcinoma|squamous cell carcinoma in situ of the skin|skin squamous cell cancer in situ|skin squamous cell carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0020760	NCIT:C2906	
MONDO:0007782	biolink:Disease	hyperthermia, cutaneous, with headaches and nausea		MESH:C564156|OMIM:145590|UMLS:C1840373	mondo.json	hyperthermia, cutaneous, with headaches and nausea|farmer syndrome	http://purl.obolibrary.org/obo/MONDO_0007782	http://identifiers.org/mesh/C564156|https://omim.org/entry/145590|UMLS:C1840373	
FOODON:03305803	biolink:NamedThing	goat milk (raw)		SUBSET_SIREN:F5803	mondo.json		http://purl.obolibrary.org/obo/FOODON_03305803		"subset_siren"
MONDO:0007783	biolink:Disease	malignant hyperthermia, susceptibility to, 1	Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the RYR1 gene.	OMIM:145600|EFO:0009071|UMLS:CN031421|MESH:C535694|GARD:0003363|Orphanet:99741	mondo.json	hyperthermia of anesthesia|King-Denborough syndrome|RYR1 malignant hyperthermia of anesthesia|hyperpyrexia, malignant|MHS1|King syndrome|susceptibility to malignant hyperthermia 1|malignant hyperthermia, susceptibility to, type 1|MHS|hyperpyrexia, malignant;MH KING syndrome, included|King-Denborough syndrome, included|malignant hyperthermia of anesthesia caused by mutation in RYR1|malignant hyperthermia susceptibility 1|malignant hyperthermia, susceptibility to, 1|malignant hyperthermia susceptibility type 1	http://purl.obolibrary.org/obo/MONDO_0007783	UMLS:CN031421|http://identifiers.org/mesh/C535694|https://omim.org/entry/145600	gard_rare|predisposition
MONDO:0005121	biolink:Disease	Enterococcus faecalis infection	A bacterial infection induced by Enterococcus faecalis which is the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens.	EFO:0000780	mondo.json	Enterococcus faecalis disease or disorder|Enterococcus faecalis infectious disease|Enterococcus faecalis caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005121		
MONDO:0007780	biolink:Disease	obsolete hypertelorism, Teebi type			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007780		
MONDO:0007781	biolink:Disease	essential hypertension, genetic	An instance of essential hypertension that is caused by a modification of the individual's genome.	OMIM:145500	mondo.json	hypertension, essential, susceptibility to, 1|hypertension, salt-sensitive essential, susceptibility to|hypertension, essential, susceptibility to, 6|hypertension, essential, susceptibility to, 5|genetic essential hypertension|EHT|hypertension, essential, susceptibility to, 4|hypertension, essential, susceptibility to, 3|hypertension, susceptibility to|hypertension, essential, susceptibility to, 2|blood pressure regulation QTL|hypertension, essential, salt-sensitive|hypertension, essential|hypertension, essential, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0007781	https://omim.org/entry/145500	
MONDO:0005120	biolink:Disease	Drosophila C virus infection	A virus infection induced by Drosophila C virus (DCV) which is a positive-sense RNA virus belonging to the Dicistroviridae family. This natural pathogen of the model organism Drosophila melanogaster is commonly used to investigate antiviral host-defense in flies, which involves both RNA interference and inducible responses.	PMID:25253354|EFO:0000779	mondo.json	Drosophila C virus disease or disorder|Drosophila C virus infectious disease|Drosophila C virus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005120		
HP:0002059	biolink:PhenotypicFeature	Cerebral atrophy	Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.	UMLS:C4020860|SNOMEDCT_US:278849000|UMLS:C0235946|SNOMEDCT_US:52522001|UMLS:C0154671|SNOMEDCT_US:418143002	mondo.json	Degeneration of cerebrum|Supratentorial atrophy	http://purl.obolibrary.org/obo/HP_0002059		
MONDO:0020759	biolink:Disease	epilepsy, childhood absence, susceptibility to, 1		OMIM:600131	mondo.json	epilepsy, childhood absence, 1|epilepsy, childhood absence, susceptibility to, 1|ECA1	http://purl.obolibrary.org/obo/MONDO_0020759	https://omim.org/entry/600131	
MONDO:0020758	biolink:Disease	obsolete MONDO:0020758			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020758		
MONDO:0020757	biolink:Disease	sporadic hemiplegic migraine	A migraine disorder characterized by an aura that includes motor weakness and the absence of family history.	NCIT:C117011	mondo.json	sporadic hemiplegic migraine	http://purl.obolibrary.org/obo/MONDO_0020757	NCIT:C117011	
MONDO:0019779	biolink:Disease	obsolete Renier-Gabreels-Jasper syndrome	OBSOLETE. Renier-Gabreels-Jasper syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).	UMLS:CN206720|Orphanet:93975|GARD:0004672|SCTID:723501008	mondo.json	Renier Gabreels Jasper syndrome	http://purl.obolibrary.org/obo/MONDO_0019779	Orphanet:93975|http://identifiers.org/snomedct/723501008|UMLS:CN206720	gard_rare|ordo_malformation_syndrome
MONDO:0017116	biolink:Disease	congenital communicating hydrocephalus		Orphanet:269505	mondo.json	congenital non-obstructive hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0017116	Orphanet:269505	ordo_clinical_subtype
MONDO:0020756	biolink:Disease	migraine, familial hemiplegic, 1		DOID:0111181|OMIM:141500|MESH:C536890|GARD:0002638	mondo.json	migraine, familial hemiplegic, 1|familial hemiplegic migraine type 1|migraine, familial hemiplegic 1, with progressive cerebellar ataxia|migraine, sporadic hemiplegic|migraine, familial hemiplegic, type 1|FHM1|hemiplegic migraine, familial type 1|migraine, familial hemiplegic, 1, with progressive cerebellar ataxia|MHP1	http://purl.obolibrary.org/obo/MONDO_0020756	DOID:0111181|http://identifiers.org/mesh/C536890|https://omim.org/entry/141500	gard_rare
MONDO:0019778	biolink:Disease	obsolete Smith-Fineman-Myers syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019778		
MONDO:0017117	biolink:Disease	congenital non-communicating hydrocephalus		SCTID:762295002|Orphanet:269510	mondo.json	congenital obstructive hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0017117	Orphanet:269510|http://identifiers.org/snomedct/762295002	ordo_clinical_subtype
MONDO:0020755	biolink:Disease	obsolete heart block		SCTID:233916004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020755	http://identifiers.org/snomedct/233916004	
MONDO:0017118	biolink:Disease	obsolete syndrome with a cerebellar malformation as major feature		UMLS:CN202468|Orphanet:269523	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017118	Orphanet:269523|UMLS:CN202468	ordo_group_of_disorders
MONDO:0020754	biolink:Disease	visceral myopathy		OMIM:155310	mondo.json	visceral myopathy|visceral myopathy 1|infantile visceral myopathy|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|VSCM	http://purl.obolibrary.org/obo/MONDO_0020754	https://omim.org/entry/155310	
MONDO:0017119	biolink:Disease	obsolete syndrome with microcephaly as major feature		Orphanet:269528|UMLS:CN202469	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017119	UMLS:CN202469|Orphanet:269528	ordo_group_of_disorders
NCBITaxon:2499403	biolink:OrganismalEntity	Tornidovirineae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2499403		
MONDO:0017112	biolink:Disease	isolated unilateral hemispheric cerebellar hypoplasia	Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal.	SCTID:766934006|Orphanet:269218	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017112	Orphanet:269218|http://identifiers.org/snomedct/766934006	ordo_morphological_anomaly
MONDO:0019775	biolink:Disease	obsolete Chudley-Lowry-Hoar syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019775		
MONDO:0019774	biolink:Disease	obsolete Holmes-Gang syndrome	OBSOLETE. Holmes-Gang syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).	UMLS:CN206715|Orphanet:93970	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019774	Orphanet:93970|UMLS:CN206715	ordo_malformation_syndrome
MONDO:0017113	biolink:Disease	isolated bilateral hemispheric cerebellar hypoplasia	Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression.	Orphanet:269221	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017113	Orphanet:269221	ordo_morphological_anomaly
MONDO:0019777	biolink:Disease	obsolete Carpenter-Waziri syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019777		
MONDO:0017114	biolink:Disease	global cerebellar malformation		Orphanet:269224	mondo.json	diffuse cerebellar malformation	http://purl.obolibrary.org/obo/MONDO_0017114	Orphanet:269224	ordo_group_of_disorders|disease_grouping
MONDO:0019776	biolink:Disease	obsolete Juberg-Marsidi syndrome	OBSOLETE. Juberg-Marsidi syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).	SCTID:721875000|Orphanet:93972	mondo.json	juberg Marsidi syndrome	http://purl.obolibrary.org/obo/MONDO_0019776	Orphanet:93972|http://identifiers.org/snomedct/721875000	ordo_malformation_syndrome
MONDO:0017115	biolink:Disease	obsolete bifid nose			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017115		
MONDO:0019771	biolink:Disease	oromandibular dystonia	Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.	UMLS:C0393607|DOID:0050843|Orphanet:93958	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019771	DOID:0050843|UMLS:C0393607|Orphanet:93958	ordo_disease
MONDO:0019770	biolink:Disease	X-linked dominant intellectual disability-epilepsy syndrome		Orphanet:93951|UMLS:CN227687	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019770	UMLS:CN227687|Orphanet:93951	ordo_disease
PATO:0002062	biolink:NamedThing	physical quality of a process			mondo.json		http://purl.obolibrary.org/obo/PATO_0002062		
MONDO:0019773	biolink:Disease	myelomeningocele	Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect.	EFO:1001369|DOID:0060326|HP:0002475|MESH:D008591|GARD:0003475|Orphanet:93969|SCTID:414667000|SCTID:203994003	mondo.json	meningomyelocele	http://purl.obolibrary.org/obo/MONDO_0019773	Orphanet:93969|http://identifiers.org/snomedct/414667000|http://identifiers.org/mesh/D008591|DOID:0060326	gard_rare|ordo_morphological_anomaly
MONDO:0017110	biolink:Disease	isolated Dandy-Walker malformation with hydrocephalus		Orphanet:269212	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017110	Orphanet:269212	ordo_clinical_subtype
MONDO:0019772	biolink:Disease	blepharospasm-oromandibular dystonia syndrome	Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia.	Orphanet:93964|DOID:3982|GARD:0007008|SCTID:230325003|MESH:D008538	mondo.json	Brueghel syndrome|segmental cranial dystonia|Meige's syndrome|blepharospasm - oromandibular dystonia|idiopathic blepharospasm-oromandibular dystonia syndrome|blepharospasm-oromandibular dystonia|oral facial dystonia|Meige syndrome|Meige dystonia	http://purl.obolibrary.org/obo/MONDO_0019772	http://identifiers.org/snomedct/230325003|http://identifiers.org/mesh/D008538|DOID:3982|Orphanet:93964	ordo_disease
MONDO:0017111	biolink:Disease	isolated Dandy-Walker malformation without hydrocephalus		Orphanet:269215	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017111	Orphanet:269215	ordo_clinical_subtype
MONDO:0005138	biolink:Disease	lung carcinoma	A carcinoma that arises from epithelial cells of the lung	DOID:3905|EFO:0001071|UMLS:C0684249|NCIT:C4878	mondo.json	lung cancer|cancer of the lung|lung carcinoma|carcinoma of the lung|cancer of lung|carcinoma of lung|lung cancer, NOS	http://purl.obolibrary.org/obo/MONDO_0005138	NCIT:C4878|UMLS:C0684249|DOID:3905	
MONDO:0005137	biolink:Disease	nutritional disorder	Any condition related to a disturbance between proper intake and utilization of nourishment.	NCIT:C26836|UMLS:C3714509|MESH:D009748|EFO:0001069|SCTID:2492009|DOID:374|ICD9:783.9	mondo.json	nutritional disorder|nutrition disease	http://purl.obolibrary.org/obo/MONDO_0005137	NCIT:C26836|UMLS:C3714509|DOID:374|http://identifiers.org/mesh/D009748|http://identifiers.org/snomedct/2492009	harrisons_view
MONDO:0007799	biolink:Disease	hypophosphatemic bone disease		MESH:C564145|OMIM:146350|UMLS:C1840321	mondo.json	hypophosphatemic bone disease|HBD	http://purl.obolibrary.org/obo/MONDO_0007799	https://omim.org/entry/146350|http://identifiers.org/mesh/C564145|UMLS:C1840321	
MONDO:0005139	biolink:Disease	morbid obesity	An excess of body weight, normally defined as an individual with a body mass index greater than 35 or a body weight greater than one hundred percent of ideal body weight.	MESH:D009767|DOID:11981|NIFSTD:nlx_dys_20090303|ICD9:278.01|UMLS:C0028756|SCTID:83911000119104|EFO:0001074	mondo.json	severe obesity	http://purl.obolibrary.org/obo/MONDO_0005139	DOID:11981|UMLS:C0028756|http://identifiers.org/mesh/D009767|http://identifiers.org/snomedct/83911000119104	
MONDO:0007797	biolink:Disease	hypoparathyroidism-deafness-renal disease syndrome	The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease.	UMLS:C1840333|DOID:0060878|Orphanet:2237|SCTID:724282009|GARD:0002911|OMIM:146255|NCIT:C130983|MESH:C537907	mondo.json	hypoparathyroidism, sensorineural deafness, and renal disease|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome|nephrosis, nerve deafness, and hypoparathyroidism|hypoparathyroidism, deafness, and renal anomalies syndrome|Barakat syndrome|HDR|HDR syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia|hypoparathyroidism-deafness-renal disease syndrome	http://purl.obolibrary.org/obo/MONDO_0007797	Orphanet:2237|https://omim.org/entry/146255|http://identifiers.org/mesh/C537907|UMLS:C1840333|DOID:0060878|NCIT:C130983|http://identifiers.org/snomedct/724282009	ordo_malformation_syndrome
MONDO:0020753	biolink:Disease	Orthocoronavirinae infectious disease	Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19.	DOID:0080599	mondo.json	coronavirus infectious disease	http://purl.obolibrary.org/obo/MONDO_0020753	DOID:0080599	
MONDO:0005134	biolink:Disease	experimental autoimmune encephalomyelitis	An autoimmune demyelinating disease of the central nervous system that is produced experimentally in animals by the injection of homogenized brain or spinal cord in Freund's adjuvant. Myelin basic protein appears to be the antigen that elicits the hypersensitivity immune response which is characterized by focal areas of lymphocyte and macrophage infiltration into the brain, associated with demyelination and destruction of the blood-brain barrier. Experimental allergic encephalomyelitis (EAE) is used as an animal model for demyelinating diseases of the human central nervous system such as multiple sclerosis.	MESH:D004681|EFO:0001066	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005134	http://identifiers.org/mesh/D004681	
MONDO:0005133	biolink:Disease	endometriosis	The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs.	SCTID:129103003|HP:0030127|MESH:D004715|ICD9:617.8|ICD9:617|NCIT:C3014|EFO:0001065|DOID:289|ICD10CM:N80|ICD9:617.9	mondo.json	endometriosis (disease)|endometriosis	http://purl.obolibrary.org/obo/MONDO_0005133	DOID:289|http://identifiers.org/snomedct/129103003|http://purl.bioontology.org/ontology/ICD10CM/N80|NCIT:C3014|http://identifiers.org/mesh/D004715	
MONDO:0007798	biolink:Disease	obsolete adult hypophosphatasia	OBSOLETE. Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia characterized by osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies.	UMLS:C0268413|ICD10CM:E83.3|Orphanet:247676|DOID:0110913|SCTID:20756002|OMIM:146300	mondo.json	odontohypophosphatasia|adult Rathburn disease|mild hypophosphatasia|adult phosphoethanolaminuria|hypophosphatasia of adults|hypophosphatasia, mild|obsolete adult hypophosphatasia|hypophosphatasia, ADULT	http://purl.obolibrary.org/obo/MONDO_0007798	UMLS:C0268413|http://identifiers.org/snomedct/20756002|https://omim.org/entry/146300|DOID:0110913|Orphanet:247676	ordo_clinical_subtype
MONDO:0020752	biolink:Disease	myoclonic epilepsy, juvenile, susceptibility to, 1		OMIM:254770	mondo.json	EJM1	http://purl.obolibrary.org/obo/MONDO_0020752		predisposition
MONDO:0005136	biolink:Disease	malaria	Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly.Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired.	ICD10CM:B53|MESH:D008288|NCIT:C34797|SCTID:61462000|MedDRA:10025487|ICD9:084.6|UMLS:C0024530|DOID:12365|EFO:0001068|ICD9:084|GARD:0006961|Orphanet:673|ICD10CM:B53.0	mondo.json	plasmodiosis	http://purl.obolibrary.org/obo/MONDO_0005136	http://identifiers.org/snomedct/61462000|http://identifiers.org/mesh/D008288|http://purl.bioontology.org/ontology/ICD10CM/B53|Orphanet:673|NCIT:C34797|UMLS:C0024530|DOID:12365	gard_rare|ordo_disease
MONDO:0020751	biolink:Disease	orthostatic hypotension 2		OMIM:618182	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020751	https://omim.org/entry/618182	
MONDO:0007795	biolink:Disease	mullerian duct anomalies-limb anomalies syndrome	Mullerian duct anomalies-limb anomalies syndrome is characterised by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant.	UMLS:C1840335|GARD:0002908|OMIM:146160|MESH:C537155|Orphanet:2491	mondo.json	hypomelia mullerian duct anomalies|severe upper limb hypoplasia and Mullerian duct anomalies|Müllerian duct anomalies-limb anomalies syndrome|limb-uterus syndrome|hypomelia with mullerian duct anomalies|limb uterus syndrome	http://purl.obolibrary.org/obo/MONDO_0007795	Orphanet:2491|http://identifiers.org/mesh/C537155|https://omim.org/entry/146160|UMLS:C1840335	ordo_malformation_syndrome
MONDO:0005135	biolink:Disease	parasitic infectious disease	A successful invasion of a host by an organism that uses the host for food and shelter.	ICD9:134.8|ICD9:134.9|SCTID:17322007|MESH:D010272|DOID:1398|ICD9:360.13|EFO:0001067|ICD9:136.4|ICD9:129|ICD9:136.9|NCIT:C27864|ICD9:136.8|ICD9:376.13	mondo.json	parasitic infection|diseases, parasitic|parasite infestation|parasitemia|parasitism|disease, parasitic|disease caused by parasite|ectoparasitic disease|parasitic disease|infestation|parasitic infectious disease|parasitosis	http://purl.obolibrary.org/obo/MONDO_0005135	http://identifiers.org/mesh/D010272|http://identifiers.org/snomedct/17322007|DOID:1398|NCIT:C27864	
MONDO:0007796	biolink:Disease	hypoparathyroidism, familial isolated 1		OMIM:146200|SCTID:237657009	mondo.json	hypoparathyroidism familial isolated|hypoparathyroidism, autosomal dominant|hypoparathyroidism, autosomal recessive|hypoparathyroidism, familial isolated 1|FIH|FIH1|hypoparathyroidism, familial isolated	http://purl.obolibrary.org/obo/MONDO_0007796	https://omim.org/entry/146200|http://identifiers.org/snomedct/237657009	gard_rare
MONDO:0020750	biolink:Disease	polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2		OMIM:618193	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020750	https://omim.org/entry/618193	
MONDO:0005130	biolink:Disease	celiac disease	An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet.	GARD:0011998|ICD9:579.0|ICD10CM:K90.0|DOID:10608|EFO:0001060|OMIMPS:212750|MESH:D002446|NCIT:C26714|SCTID:396331005|UMLS:C0007570|Orphanet:555	mondo.json	non tropical sprue|idiopathic steatorrhea|gluten-induced enteropathy|celiac sprue|coeliac disease|gluten intolerance	http://purl.obolibrary.org/obo/MONDO_0005130	http://identifiers.org/mesh/D002446|Orphanet:555|https://omim.org/phenotypicSeries/PS212750|UMLS:C0007570|http://identifiers.org/snomedct/396331005|http://purl.bioontology.org/ontology/ICD10CM/K90.0|NCIT:C26714|DOID:10608	
MONDO:0007793	biolink:Disease	hypochondroplasia	Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.	SCTID:205468002|ICD10CM:Q77.4|GARD:0006724|OMIM:146000|NCIT:C118697|ICD9:756.9|Orphanet:429|MESH:C562937|DOID:0080041|UMLS:C0410529|MedDRA:10020967	mondo.json	HCH|hypochondroplasia	http://purl.obolibrary.org/obo/MONDO_0007793	NCIT:C118697|DOID:0080041|UMLS:C0410529|https://omim.org/entry/146000|Orphanet:429|http://identifiers.org/snomedct/205468002|http://identifiers.org/mesh/C562937	ordo_disease|gard_rare
MONDO:0007794	biolink:Disease	hypogonadotropic hypogonadism 7 with or without anosmia	A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.	ICD9:253.4|DOID:0090078|SCTID:123953004|ICD10CM:E23.0|OMIM:146110	mondo.json	idiopathic hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 7 with or without anosmia|hypogonadism, isolated hypogonadotropic|HH7|hypogonadotropic hypogonadism 7 without anosmia	http://purl.obolibrary.org/obo/MONDO_0007794	https://omim.org/entry/146110|DOID:0090078|http://identifiers.org/snomedct/123953004	
MONDO:0005132	biolink:Disease	cytomegalovirus infection	A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies.	MESH:D003586|NCIT:C53649|SCTID:28944009|EFO:0001062|UMLS:C0010823|ICD9:078.5	mondo.json	Cytomegaloviral infection|HCMV infection|CMV infection	http://purl.obolibrary.org/obo/MONDO_0005132	NCIT:C53649|http://identifiers.org/snomedct/28944009|UMLS:C0010823|http://identifiers.org/mesh/D003586	
MONDO:0007791	biolink:Disease	familial hypocalciuric hypercalcemia 1	Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene.	Orphanet:93372|SCTID:704166007|GARD:0002796|MESH:C537145|OMIM:145980|MedDRA:10068704|DOID:0060700	mondo.json	Fhh1|hypocalciuric hypercalcemia, familial, type 1|familial hypocalciuric hypercalcemia type I|hypocalciuric hypercalcemia type I|FBH1|familial benign hypercalcemia type 1|hpocalciuric hypercalcemia, type I|CASR familial hypocalciuric hypercalcemia|familial hypocalciuric hypercalcemia type 1|HHC1|familial hypocalciuric hypercalcemia caused by mutation in CASR|FHH type 1|hypercalcemia, familial benign|hypocalciuric hypercalcemia, familial, type I|familial benign hypercalcemia 1|hypocalciuric hypercalcemia, acquired|hypercalcemia, familial benign type 1	http://purl.obolibrary.org/obo/MONDO_0007791	http://identifiers.org/mesh/C537145|https://omim.org/entry/145980|DOID:0060700|http://identifiers.org/snomedct/704166007|Orphanet:93372	ordo_etiological_subtype
MONDO:0007792	biolink:Disease	familial hypocalciuric hypercalcemia 2	A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.	UMLS:C1840347|GARD:0009758|MESH:C537146|OMIM:145981|Orphanet:101049|DOID:0060701	mondo.json	hypocalciuric hypercalcemia, familial, type II|hypocalciuric hypercalcemia, familial, type 2|FBH2|HHC2|hpocalciuric hypercalcemia, type II|familial hypocalciuric hypercalcemia type 2|familial benign hypercalcemia, type 2|hypocalciuric hypercalcemia type II|hypercalcemia, familial benign, type 2|FHH type 2|hypercalcemia, familial benign type 2	http://purl.obolibrary.org/obo/MONDO_0007792	http://identifiers.org/mesh/C537146|https://omim.org/entry/145981|Orphanet:101049|UMLS:C1840347|DOID:0060701	ordo_etiological_subtype
MONDO:0005131	biolink:Disease	cervical carcinoma	A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma.	SCTID:285432005|NCIT:C9039|DOID:2893|EFO:0001061|UMLS:C0302592	mondo.json	carcinoma of the uterine cervix|carcinoma of uterine cervix|uterine cervix carcinoma|carcinoma of cervix|carcinoma of the cervix uteri|carcinoma cervix uteri|uterine cervix cancer|cancer of the cervix|cervix uteri carcinoma|cancer of cervix|cervix cancer|cancer of uterine cervix|cervix carcinoma|cancer of the uterine cervix|cervical cancer, NOS|carcinoma of the cervix|cervical carcinoma|carcinoma of cervix uteri|cervical cancer	http://purl.obolibrary.org/obo/MONDO_0005131	NCIT:C9039|UMLS:C0302592|DOID:2893|http://identifiers.org/snomedct/285432005	
HP:0002069	biolink:PhenotypicFeature	Bilateral tonic-clonic seizure	A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.	MSH:D012640|UMLS:C0494475|SNOMEDCT_US:54200006	mondo.json	Bilateral convulsive seizures|Tonic-clonic convulsion|Generalised tonic-clonic seizure (without specification of onset)|Generalized convulsion|Seizures, tonic-clonic|Grand mal|Tonic-clonic convulsions|Generalized tonic-clonic seizure (without specification of onset)|Grand mal seizures|Generalised convulsion	http://purl.obolibrary.org/obo/HP_0002069		
MONDO:0017109	biolink:Disease	isolated partial cerebellar vermis agenesis		Orphanet:269209	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017109	Orphanet:269209	ordo_clinical_subtype
MONDO:0007790	biolink:Disease	Charcot-Marie-Tooth disease type 3		NCIT:C133087|SCTID:111499002|DOID:0050540|GARD:0009204|OMIM:145900|UMLS:C0011195|Orphanet:64748	mondo.json	Charcot-Marie-Tooth disease, type 3|HMSN III|Dejerine-Sottas syndrome|Charcot-Marie-Tooth disease type 3|Dejerine-Sottas neuropathy|HMSN 3|CMT3|hypertrophic neuropathy of Dejerine-Sottas|hereditary motor and sensory neuropathy type 3|hypertrophic neuropathy of infancy|hereditary motor and sensory neuropathy 3|hereditary motor and sensory neuropathy type III|HMSN3|dejerine-sottas disease|DSN	http://purl.obolibrary.org/obo/MONDO_0007790	UMLS:C0011195|DOID:0050540|https://omim.org/entry/145900|Orphanet:64748|http://identifiers.org/snomedct/111499002|NCIT:C133087	ordo_disease
FOODON:00001046	biolink:NamedThing	seafood product	A seafood product is a vertebrate or invertibrate organism from an aquatic environment.		mondo.json		http://purl.obolibrary.org/obo/FOODON_00001046		
MONDO:0020749	biolink:Disease	polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1		OMIM:221770	mondo.json	polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	http://purl.obolibrary.org/obo/MONDO_0020749	https://omim.org/entry/221770	
MONDO:0020748	biolink:Disease	sitosterolemia 2		OMIM:618666	mondo.json	STSL2	http://purl.obolibrary.org/obo/MONDO_0020748	https://omim.org/entry/618666	
MONDO:0020747	biolink:Disease	sitosterolemia 1		OMIM:210250	mondo.json	STSL1|sitosterolemia 1	http://purl.obolibrary.org/obo/MONDO_0020747	https://omim.org/entry/210250	
MONDO:0019768	biolink:Disease	X-linked intellectual disability, Golabi-Ito-hall type	Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.	Orphanet:93947|UMLS:CN206703	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019768	Orphanet:93947|UMLS:CN206703	ordo_clinical_subtype
MONDO:0020746	biolink:Disease	contractures, pterygia, and variable skeletal fusions syndrome 1B		OMIM:618469	mondo.json	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B	http://purl.obolibrary.org/obo/MONDO_0020746	https://omim.org/entry/618469	
MONDO:0017105	biolink:Disease	glioependymal/ependymal cyst	Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias).	Orphanet:269197	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017105	Orphanet:269197	ordo_morphological_anomaly
MONDO:0017106	biolink:Disease	retrocerebellar cyst		Orphanet:269200|HP:0006951	mondo.json	Retrocerebellar cyst|retrocerebellar cyst (disease)|Retrocerebellar arachnoid cyst	http://purl.obolibrary.org/obo/MONDO_0017106	Orphanet:269200	ordo_morphological_anomaly
MONDO:0020745	biolink:Disease	ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome		UMLS:C5542154|OMIM:115000	mondo.json	autosomal dominant cardiac arrhythmia (Kuhn)|cardiac arrhythmia|ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome|extrasystoles|VACRDS	http://purl.obolibrary.org/obo/MONDO_0020745	https://omim.org/entry/115000|UMLS:C5542154	n_of_one
MONDO:0019767	biolink:Disease	hamel cerebro-palato-cardiac syndrome	Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.	Orphanet:93946|UMLS:CN206702	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019767	Orphanet:93946|UMLS:CN206702	ordo_clinical_subtype
MONDO:0020744	biolink:Disease	Mobitz type I atrioventricular block	A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a progressively lengthening PR interval prior to the block of an atrial impulse. (CDISC)	NCIT:C62017	mondo.json	second degree atrioventricular block Mobitz type I|type 1 second degree AV block|Möbitz I|AV block second degree Mobitz type I|Wenckebach block|Möbitz type I second degree AV block|second degree atrioventricular block Möbitz type I|type 1 2nd degree AV block|Mobitz I|AV block second degree Möbitz type I|Mobitz type I second degree AV block|type 1 second degree atrioventricular block|Mobitz type I	http://purl.obolibrary.org/obo/MONDO_0020744	NCIT:C62017	
PATO:0002078	biolink:NamedThing	hollow	A quality inhering in a bearer by virtue of the bearer's having an empty space or cavity within.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002078		
MONDO:0017107	biolink:Disease	isolated cerebellar vermis agenesis		Orphanet:269203	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017107	Orphanet:269203	ordo_morphological_anomaly
MONDO:0020743	biolink:Disease	mixed phenotype acute leukemia	An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage.	Orphanet:530995|MedDRA:10067399|OMIM:601626|NCIT:C82179	mondo.json	mixed phenotype acute leukemia|MPAL	http://purl.obolibrary.org/obo/MONDO_0020743	Orphanet:530995|NCIT:C82179	ordo_disease
MONDO:0019769	biolink:Disease	X-linked intellectual disability, Sutherland-Haan type		UMLS:CN206704|Orphanet:93950	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019769	Orphanet:93950|UMLS:CN206704	ordo_clinical_subtype
MONDO:0017108	biolink:Disease	isolated total cerebellar vermis agenesis		Orphanet:269206	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017108	Orphanet:269206	ordo_clinical_subtype
MONDO:0017101	biolink:Disease	isolated focal cortical dysplasia type IIa		Orphanet:269001	mondo.json	FCD type IIa	http://purl.obolibrary.org/obo/MONDO_0017101	Orphanet:269001	ordo_histopathological_subtype
MONDO:0019764	biolink:Disease	laryngotracheoesophageal cleft type 4	Laryngo-tracheo-esophageal cleft (LC) type 4 is a serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress.	Orphanet:93941|UMLS:CN206699	mondo.json	LTEC4|LTEC IV|laryngo-tracheo-esophageal cleft type 4	http://purl.obolibrary.org/obo/MONDO_0019764	Orphanet:93941|UMLS:CN206699	ordo_clinical_subtype
MONDO:0017102	biolink:Disease	isolated focal cortical dysplasia type IIb		Orphanet:269008|UMLS:CN202460	mondo.json	FCD type IIb	http://purl.obolibrary.org/obo/MONDO_0017102	Orphanet:269008|UMLS:CN202460	ordo_histopathological_subtype
MONDO:0019763	biolink:Disease	laryngotracheoesophageal cleft type 3	Laryngo-tracheo-esophageal cleft (LC) type 3 is a congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage.	Orphanet:93940|OMIM:215800|UMLS:CN206698	mondo.json	LTEC3|laryngo-tracheo-esophageal cleft type 3|LTEC III	http://purl.obolibrary.org/obo/MONDO_0019763	Orphanet:93940|UMLS:CN206698	ordo_clinical_subtype
MONDO:0019766	biolink:Disease	X-linked intellectual disability, Porteous type		Orphanet:93945|UMLS:CN206701	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019766	Orphanet:93945|UMLS:CN206701	ordo_clinical_subtype
MONDO:0017103	biolink:Disease	encephaloclastic disorder		UMLS:CN227080|Orphanet:269190	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017103	Orphanet:269190|UMLS:CN227080	disease_grouping|ordo_group_of_disorders
NBO:0000551	biolink:NamedThing	visual object recognition	"Ability to perceive the physical properties of an object (such as shape, colour and texture) and apply semantic attributes to the object, which includes the understanding of its use, previous experience with the object and how it relates to others." [wikipedia:Cognitive_Neuroscience_of_Visual_Object_Recognition]		mondo.json		http://purl.obolibrary.org/obo/NBO_0000551		
HP:0002060	biolink:PhenotypicFeature	Abnormal cerebral morphology	Any structural abnormality of the telencephalon, which is also known as the cerebrum.	UMLS:C4021762	mondo.json	Abnormality of the cerebrum|Abnormality of the telencephalon|Cerebral lesion	http://purl.obolibrary.org/obo/HP_0002060		
MONDO:0019765	biolink:Disease	Celosomia		ICD9:759.89|Orphanet:93942|SCTID:44518003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019765	http://identifiers.org/snomedct/44518003|Orphanet:93942	ordo_morphological_anomaly
NBO:0000550	biolink:NamedThing	recognition memory	"Ability to correctly remember something that has been encountered before." [wikipedia:Recognition_memory]		mondo.json		http://purl.obolibrary.org/obo/NBO_0000550		
MONDO:0017104	biolink:Disease	central nervous system cystic malformation		Orphanet:269194	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017104	Orphanet:269194	disease_grouping|ordo_group_of_disorders
MONDO:0019760	biolink:Disease	terminal transverse defects of arm		UMLS:C1857578|MESH:C565681|Orphanet:93937	mondo.json	congenital limb amputation	http://purl.obolibrary.org/obo/MONDO_0019760	Orphanet:93937|UMLS:C1857578|http://identifiers.org/mesh/C565681	ordo_morphological_anomaly
PATO:0002072	biolink:NamedThing	decreased affinity	An affinity which is relatively low.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002072		
NCBITaxon:2499411	biolink:OrganismalEntity	Articulavirales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2499411		
HP:0002066	biolink:PhenotypicFeature	Gait ataxia	A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.	MSH:D020234|UMLS:C0751837|SNOMEDCT_US:25136009	mondo.json	Inability to coordinate movements when walking|Ataxic gait|Ataxia of gait	http://purl.obolibrary.org/obo/HP_0002066		
NCBITaxon:32594	biolink:OrganismalEntity	Babesiidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_32594		
MONDO:0019762	biolink:Disease	laryngotracheoesophageal cleft type 2	Laryngo-tracheo-esophageal cleft (LC) type 2 is a congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections.	Orphanet:93939|UMLS:CN206697	mondo.json	laryngo-tracheo-esophageal cleft type 2|LTEC II|LTEC2	http://purl.obolibrary.org/obo/MONDO_0019762	Orphanet:93939|UMLS:CN206697	ordo_clinical_subtype
HP:0002063	biolink:PhenotypicFeature	Rigidity	Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.	MSH:D009127|UMLS:C0026837|SNOMEDCT_US:16046003	mondo.json	Rigidity|Muscle rigidity	http://purl.obolibrary.org/obo/HP_0002063		
PATO:0002070	biolink:NamedThing	affinity	A molecular quality that arises from the molecular attraction exerted between two atoms or compounds.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002070		
MONDO:0017100	biolink:Disease	neutropenia-monocytopenia-deafness syndrome	Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.	UMLS:CN202458|Orphanet:2690	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017100	UMLS:CN202458|Orphanet:2690	ordo_disease
MONDO:0019761	biolink:Disease	laryngotracheoesophageal cleft type 1	Laryngo-tracheo-esophageal cleft (LC) type 1 is a congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms.	Orphanet:93938|UMLS:CN206696	mondo.json	LTEC1|laryngo-tracheo-esophageal cleft type 1|LTEC I	http://purl.obolibrary.org/obo/MONDO_0019761	Orphanet:93938|UMLS:CN206696	ordo_clinical_subtype
PATO:0002071	biolink:NamedThing	increased affinity	An affinity which is relatively high.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002071		
MONDO:0005109	biolink:Disease	HIV infectious disease	An infection caused by the human immunodeficiency virus.	UMLS:C0019693|SCTID:86406008|ICD9:042-042.99|DOID:526|ICD9:042|NCIT:C3108|EFO:0000764|ICD10CM:B20-B20|MESH:D015658	mondo.json	Human immunodeficiency virus caused disease or disorder|human immunodeficiency virus infectious disease|HIV infection|Human immunodeficiency virus infectious disease|Human immunodeficiency virus disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005109	UMLS:C0019693|http://identifiers.org/snomedct/86406008|http://purl.bioontology.org/ontology/ICD10CM/B20-B20|NCIT:C3108|http://identifiers.org/mesh/D015658|DOID:526	
MONDO:0005108	biolink:Disease	viral infectious disease	Any disease caused by a virus.	ICD9:066.9|MESH:D014777|ICD9:079.99|ICD9:060-066.99|DOID:934|EFO:0000763|SCTID:34014006|NCIT:C3439|ICD9:078.89	mondo.json	virus infection|Viruses infectious disease|Viruses caused disease or disorder|viral disorder|infections, Viruses|viral disease|infection, viral|Viruses disease or disorder|Viruses infection|viral infection	http://purl.obolibrary.org/obo/MONDO_0005108	NCIT:C3439|http://identifiers.org/mesh/D014777|http://identifiers.org/snomedct/34014006|DOID:934	
MONDO:0007768	biolink:Disease	hyperparathyroidism 2 with jaw tumors	An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts.	SCTID:702378002|NCIT:C48287|OMIM:145001|UMLS:C1704981|Orphanet:99880|GARD:0010829	mondo.json	hyperparathyroidism-jaw tumor syndrome|hyperparathyroidism type 2|parathyroid adenomatosis, familial cystic|hyperparathyroidism-2|hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas|parathyroid adenoma with cystic changes|hyperparathyroidism-jaw tumor syndrome, hereditary|hereditary hyperparathyroidism-jaw tumor syndrome|hyperparathyroidism 2|HPT-JT|hyperparathyroidism 2 with jaw tumors|HRPT2|familial primary hyperparathyroidism with multiple ossifying jaw fibromas	http://purl.obolibrary.org/obo/MONDO_0007768	UMLS:C1704981|NCIT:C48287|Orphanet:99880|https://omim.org/entry/145001|http://identifiers.org/snomedct/702378002	ordo_disease|gard_rare
MONDO:0005105	biolink:Disease	melanoma	A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.	MESH:D008545|EFO:0000756|DOID:1909|UMLS:C0025202|HP:0002861|OMIM:155600|KEGG:05218|UMLS:CN971653|NCIT:C3224|Orphanet:411533|ICDO:8720/3|SCTID:372244006|ONCOTREE:MEL	mondo.json	melanoma|melanoma (disease)|malignant melanoma|Naevocarcinoma|melanoma, malignant	http://purl.obolibrary.org/obo/MONDO_0005105	DOID:1909|NCIT:C3224|UMLS:CN971653|http://identifiers.org/snomedct/372244006|UMLS:C0025202|Orphanet:411533|http://identifiers.org/mesh/D008545	
MONDO:0007769	biolink:Disease	hyperpigmentation of eyelid	Over-production of pigment in the eyelid.	EFO:1000711|UMLS:C0155211|DOID:10122|SCTID:41115008|MESH:C562400|ICD9:374.52|OMIM:145100	mondo.json	dyspigmentation of eyelid|hyperpigmentation of eyelids	http://purl.obolibrary.org/obo/MONDO_0007769	UMLS:C0155211|http://identifiers.org/snomedct/41115008|DOID:10122|http://identifiers.org/mesh/C562400|https://omim.org/entry/145100	
MONDO:0005104	biolink:Disease	aJCC grade 1 sarcoma	Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma)	EFO:0000737|UMLS:C1332066|NCIT:C9419	mondo.json	aJCC grade 1 sarcoma|well differentiated sarcoma|aJCC G1 sarcoma|aJCC grade I sarcoma	http://purl.obolibrary.org/obo/MONDO_0005104	UMLS:C1332066|NCIT:C9419	
MONDO:0007766	biolink:Disease	Morgagni-Stewart-Morel syndrome	Morgagni-Stewart-Morel syndrome is characterised by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant.	OMIM:144800|NCIT:C84772|SCTID:82054006|MESH:D006957|Orphanet:77296|GARD:0008593	mondo.json	hyperostosis frontalis interna, obesity, shortness and cognitive impairment|MSM syndrome|Morgagni-Stewart-Morel syndrome|hyperostosis frontalis interna	http://purl.obolibrary.org/obo/MONDO_0007766	http://identifiers.org/snomedct/82054006|Orphanet:77296|http://identifiers.org/mesh/D006957|https://omim.org/entry/144800|NCIT:C84772	ordo_malformation_syndrome|gard_rare
MONDO:0005107	biolink:Disease	obsolete hepatocellular adenoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005107		
MONDO:0007767	biolink:Disease	hyperparathyroidism 1		UMLS:C1840403|Orphanet:99877|OMIM:145000|UMLS:C1840402	mondo.json	HRPT1|hyperparathyroidism 1|hyperparathyroidism type 1|hyperparathyroidism, familial primary|parathyroid adenoma, familial|hyperparathyroidism, familial isolated primary	http://purl.obolibrary.org/obo/MONDO_0007767	UMLS:C1840402|https://omim.org/entry/145000	
MONDO:0005106	biolink:Disease	lipoma	A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue.	SCTID:254831005|SCTID:93163002|UMLS:C0206631|EFO:0000759|NCIT:C3192|MESH:D008067|UMLS:C0023798|ICD9:214|ICDO:8850/0|DOID:3315|ICD9:214.9	mondo.json	lipomatous neoplasm (morphologic abnormality)|lipoma, benign|lipomatous tumor|lipomatosis, familial multiple|lipomatous neoplasm|lipoma|benign tumor of adipose tissue|multiple lipomatosis	http://purl.obolibrary.org/obo/MONDO_0005106	UMLS:C0023798|http://identifiers.org/snomedct/93163002|NCIT:C3192|http://identifiers.org/mesh/D008067|DOID:3315	
MONDO:0005101	biolink:Disease	ulcerative colitis	An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage.	Orphanet:771|SCTID:64766004|UMLS:C0009324|OMIM:266600|ICD9:556.5|MESH:D003093|NCIT:C2952|ICD9:556.9|EFO:0000729|DOID:8577|ICD9:556|ICD9:556.8|HP:0100279	mondo.json	ulcerative colitis (disease)|ulcerative colitis|left-sided ulcerative colitis|ulcerative proctosigmoiditis|colitis ulcerative	http://purl.obolibrary.org/obo/MONDO_0005101	http://identifiers.org/mesh/D003093|DOID:8577|http://identifiers.org/snomedct/64766004|UMLS:C0009324|NCIT:C2952|Orphanet:771	
MONDO:0007764	biolink:Disease	autosomal dominant osteosclerosis, Worth type	A sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.	OMIM:607636|SCTID:254131007|GARD:0009488|GARD:0000390|OMIM:144750|DOID:0080037|Orphanet:2790	mondo.json	endosteal hyperostosis, Worth type|VBCH2|Ostéosclérose autosomique dominante type Worth|osteosclerosis of the skull and enlarged mandible|osteosclerosis, autosomal dominant|Worth syndrome|Worth's syndrome|hyperostosis, endosteal|osteosclerosis, autosomal dominant, Worth type|autosomal dominant osteosclerosis|Van Buchem disease type 2|hyperostosis corticalis generalisata, benign form of Worth with torus palatinus|Van Buchem disease, type 2|endosteal hyperostosis, autosomal dominant|hyperostosis corticalis generalisata, benign form of Worth, with torus palatinus|autosomal dominant endosteal hyperostosis|benign form of Worth hyperostosis corticalis generalisata with torus platinus	http://purl.obolibrary.org/obo/MONDO_0007764	https://omim.org/entry/144750|http://identifiers.org/snomedct/254131007|DOID:0080037|Orphanet:2790	ordo_malformation_syndrome
MONDO:0020742	biolink:Disease	obsolete cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome		MESH:C537965|OMIM:212540|Orphanet:1317|GARD:0001060	mondo.json	CAMAK syndrome|cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome|cataract, microcephaly, arthrogryposis, kyphosis syndrome|cataract-microcephaly-failure to thrive-kyphoscoliosis|CAMFAK syndrome	http://purl.obolibrary.org/obo/MONDO_0020742	Orphanet:1317|https://omim.org/entry/212540|http://identifiers.org/mesh/C537965	
MONDO:0005100	biolink:Disease	systemic sclerosis	A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension.	Orphanet:90291|UMLS:CN206012|MedDRA:10042953|EFO:0000717|DOID:418|MESH:D012595|NCIT:C72070|SCTID:89155008|GARD:0009748|ICD9:710.1	mondo.json	Scleroderma, systemic|systemic scleroderma|PSS (progressive systemic sclerosis)|diffuse sclerosis|SSc|systemic Scleroderma|Scleroderma (& [systemic sclerosis])|systemic sclerosis|progressive systemic sclerosis|SSc, diffuse sclerosis|Scleroderma|diffuse Scleroderma|Scleroderma syndrome|Scleroderma, diffuse	http://purl.obolibrary.org/obo/MONDO_0005100	Orphanet:90291|DOID:418|http://identifiers.org/mesh/D012595|UMLS:CN206012|http://identifiers.org/snomedct/89155008|NCIT:C72070	ordo_disease
MONDO:0007765	biolink:Disease	hyperostosis cranialis interna		Orphanet:443098|OMIM:144755|HP:0005890|MESH:C564168	mondo.json	hyperostosis cranialis interna|hyperostosis cranalis interna|HCIN|hyperostosis cranialis interna (disease)	http://purl.obolibrary.org/obo/MONDO_0007765	https://omim.org/entry/144755|Orphanet:443098|http://identifiers.org/mesh/C564168	ordo_disease
MONDO:0020741	biolink:Disease	pyridoxine-dependent epilepsy caused by ALDH7A1 mutant		OMIM:266100	mondo.json	EPD|pyridoxine-dependent epilepsy|AASA dehydrogenase deficiency|Epd|pyridoxine-dependent epilepsy caused by ALDH7A1 mutant|epilepsy, pyridoxine-dependent|pyridoxine dependency with seizures	http://purl.obolibrary.org/obo/MONDO_0020741	https://omim.org/entry/266100	
MONDO:0005103	biolink:Disease	well-differentiated liposarcoma	A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation.	UMLS:C1370889|NCIT:C4250|Orphanet:99971|EFO:0000736|ICDO:8851/3|ONCOTREE:WDLS	mondo.json	well-differentiated liposarcoma|ALT|atypical lipoma|atypical lipomatous tumor|WDLS|well differentiated liposarcoma of deep soft tissue|well differentiated liposarcoma	http://purl.obolibrary.org/obo/MONDO_0005103	UMLS:C1370889|NCIT:C4250|Orphanet:99971	ordo_histopathological_subtype
MONDO:0007762	biolink:Disease	hyperlipoproteinemia type V	A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I.	Orphanet:530849|DOID:1171|OMIM:144650|SCTID:34349009|Orphanet:70470|GARD:0006704|MESH:D006954|MedDRA:10060755	mondo.json	hyperchylomicronemia with Hyperprebetalipoproteinemia, familial|hyperlipemia combined fat and carbohydrate-induced|familial hyperlipoproteinemia type V|hyperlipemia mixed|hyperlipemia, combined fat and carbohydrate-induced|hyperlipemia, mixed|hyperlipidemia type V|HLP type 5|hyperlipoproteinemia, type V|hyperlipoproteinemia, type 5|mixed hyperlipemia|type V hyperlipoproteinemia|familial apolipoprotein a5 deficiency|familial type 5 hyperlipoproteinemia|familial apolipoprotein A-V deficiency|hyperlipidemia, type 5|familial APOA5 deficiency|major hyperlipidemia|hyperchylomicronemia late onset|hyperchylomicronemia, late-onset|hyperlipoproteinemia type 5|Fredrickson type V lipaemia	http://purl.obolibrary.org/obo/MONDO_0007762	Orphanet:530849|DOID:1171|https://omim.org/entry/144650|http://identifiers.org/snomedct/34349009|http://identifiers.org/mesh/D006954	ordo_disease|ordo_subtype_of_a_disorder|gard_rare
MONDO:0020740	biolink:Disease	ectodermal dysplasia and immunodeficiency 1		OMIM:300291	mondo.json	ectodermal dysplasia, anhidrotic, with immune deficiency 1|EDA-Id|EDAID1|HED-Id|ectodermal dysplasia and immunodeficiency 1, X-linked recessive|ectodermal dysplasia, hypohidrotic, with immune deficiency 1	http://purl.obolibrary.org/obo/MONDO_0020740	https://omim.org/entry/300291	
MONDO:0005102	biolink:Disease	undifferentiated (embryonal) sarcoma	An aggressive malignant mesenchymal neoplasm that arises from the liver and usually occurs in older children. It is composed of immature spindle, stellate, polymorphous, and giant cells.	UMLS:C0855073|ICDO:8991/3|EFO:0000730|ICDO:8805/3|NCIT:C27096|GARD:0008650	mondo.json	sarcoma, undifferentiated, malignant|undifferentiated (embryonal) sarcoma|embryonal sarcoma (undifferentiated sarcoma)|undifferentiated sarcoma|embryonal sarcoma|embryonal sarcoma, undifferentiated|UES	http://purl.obolibrary.org/obo/MONDO_0005102	UMLS:C0855073|NCIT:C27096	
MONDO:0007763	biolink:Disease	nonpapillary renal cell carcinoma		DOID:0050387|OMIM:144700	mondo.json	renal cell carcinoma, nonpapillary|renal cell carcinoma|renal cell carcinoma, somatic|nonpapillary renal carcinoma 1 locus|clear cell renal cell carcinoma|clear cell renal cell adenocarcinoma|renal carcinoma, chromophobe, somatic|RCC|adenocarcinoma of kidney|renal cell carcinoma, clear cell, somatic|hypernephroma|renal cell carcinoma, clear cell|CCRCC	http://purl.obolibrary.org/obo/MONDO_0007763	DOID:0050387|https://omim.org/entry/144700	ordo_disease
MONDO:0007760	biolink:Disease	hyperlipoproteinemia, type II, and deafness		MESH:C564170|OMIM:144300|UMLS:C1840425	mondo.json	hyperlipoproteinemia, type II, and deafness	http://purl.obolibrary.org/obo/MONDO_0007760	http://identifiers.org/mesh/C564170|https://omim.org/entry/144300|UMLS:C1840425	
MONDO:0007761	biolink:Disease	hyperlipoproteinemia type IV	A laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration.	ICD9:272.1|SCTID:34528009|OMIM:145750|OMIM:144600|GARD:0006418|MESH:D006953|SCTID:238085009|UMLS:CN074246|Orphanet:413|DOID:1172	mondo.json	Fredrickson type IV Lipidemia|hyperlipoproteinemia, type IV|endogenous hyperlipidaemia|Fredrickson type IV hyperlipoproteinemia|carbohydrate-inducible hyperlipemia|familial hypertriglyceridemia|VLDL hyperlipoproteinemia|familial type IV hyperlipoproteinemia|hyperlipoproteinemia, type 4|carbohydrate inducible hyperlipemia|Fredrickson type IV lipidaemia|hyperlipoproteinemia type 4	http://purl.obolibrary.org/obo/MONDO_0007761	UMLS:CN074246|http://identifiers.org/snomedct/238085009|Orphanet:413|DOID:1172|https://omim.org/entry/144600|http://identifiers.org/mesh/D006953	gard_rare
FOODON:00001053	biolink:NamedThing	fermented dairy food product			mondo.json		http://purl.obolibrary.org/obo/FOODON_00001053		
MONDO:0020739	biolink:Disease	hypercalcemia, infantile, 1		OMIM:143880|UMLS:C0268080	mondo.json	hypercalcemia, infantile, 1|autosomal recessive infantile hypercalcemia 1|HCINF1	http://purl.obolibrary.org/obo/MONDO_0020739	UMLS:C0268080|https://omim.org/entry/143880	
MONDO:0020738	biolink:Disease	multiple benign circumferential skin creases on limbs 1		OMIM:156610	mondo.json	skin creases, congenital symmetric circumferential, 1|CSCSC1|symmetric circumferential skin creases, congenital, 1	http://purl.obolibrary.org/obo/MONDO_0020738	https://omim.org/entry/156610	
HP:0002034	biolink:PhenotypicFeature	Abnormal rectum morphology	An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.	UMLS:C0266210|SNOMEDCT_US:86993003	mondo.json	Abnormality of the rectum|Anomaly of the rectum	http://purl.obolibrary.org/obo/HP_0002034		
MONDO:0020737	biolink:Disease	optic atrophy 10 with or without ataxia, intellectual disability, and seizures		DOID:0111434|OMIM:616732	mondo.json	optic atrophy 10 with or without ataxia, intellectual disability, and seizures|optic atrophy 10 with or without ataxia, mental retardation, and seizures|OPA10	http://purl.obolibrary.org/obo/MONDO_0020737	DOID:0111434|https://omim.org/entry/616732	
FOODON:00001054	biolink:NamedThing	fermented fish or seafood food product			mondo.json		http://purl.obolibrary.org/obo/FOODON_00001054		
MONDO:0020736	biolink:Disease	uncombable hair syndrome 1		OMIM:191480	mondo.json	uncombable hair syndrome|UHS1|uncombable hair syndrome 1|pili trianguli Et canaliculi	http://purl.obolibrary.org/obo/MONDO_0020736	https://omim.org/entry/191480	
HP:0002035	biolink:PhenotypicFeature	Rectal prolapse	Protrusion of the rectal mucous membrane through the anus.	MSH:D012005|UMLS:C0034888|MEDDRA:10038077|SNOMEDCT_US:57773001	mondo.json	Rectal prolapsed|Rectum protrudes through anus	http://purl.obolibrary.org/obo/HP_0002035		hposlim_core
FOODON:00001055	biolink:NamedThing	sea water fish food product			mondo.json		http://purl.obolibrary.org/obo/FOODON_00001055		
MONDO:0020735	biolink:Disease	ACTH-independent macronodular adrenal hyperplasia 1		UMLS:C1857451|DOID:0111623|OMIM:219080	mondo.json	AIMAH1|Cushing syndrome, adrenal, due to AIMAH|ACTH-independent macronodular adrenocortical hyperplasia|ACTH-independent macronodular adrenal hyperplasia|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia|ACTH-independent macronodular adrenal hyperplasia, Somatic mutation	http://purl.obolibrary.org/obo/MONDO_0020735	UMLS:C1857451|https://omim.org/entry/219080|DOID:0111623	
MONDO:0019757	biolink:Disease	alobar holoprosencephaly	Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure.	Orphanet:93925|OMIM:157170|SCTID:253137003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019757	Orphanet:93925|http://identifiers.org/snomedct/253137003	ordo_clinical_subtype
MONDO:0020734	biolink:Disease	obsolete erythrocyte AMP deaminase deficiency		UMLS:C2752073|OMIM:612874	mondo.json	AMP deaminase deficiency, erythrocytic|erythrocyte AMP deaminase deficiency	http://purl.obolibrary.org/obo/MONDO_0020734	https://omim.org/entry/612874|UMLS:C2752073	
MONDO:0019756	biolink:Disease	lobar holoprosencephaly	Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.	Orphanet:93924|SCTID:253136007|OMIM:157170	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019756	Orphanet:93924|http://identifiers.org/snomedct/253136007	ordo_clinical_subtype
MONDO:0019759	biolink:Disease	epispadias	Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra.	MedDRA:10015088|ICD9:752.62|MESH:D004842|UMLS:C0014588|HP:0000039|UMLS:CN227686|SCTID:406476007|Orphanet:93928|NCIT:C98923	mondo.json	epispadias|epispadias (disease)	http://purl.obolibrary.org/obo/MONDO_0019759	http://identifiers.org/snomedct/406476007|NCIT:C98923|http://identifiers.org/mesh/D004842|Orphanet:93928|UMLS:CN227686|UMLS:C0014588	ordo_clinical_subtype
MONDO:0020733	biolink:Disease	proximal symphalangism 1A		OMIM:185800|UMLS:C3714899	mondo.json	Sym1|symphalangism, proximal, type 1A|SYM1A|symphalangism, proximal, 1A|Cushing symphalangism|hereditary absence of the proximal interphalangeal joints	http://purl.obolibrary.org/obo/MONDO_0020733	UMLS:C3714899|https://omim.org/entry/185800	
MONDO:0019758	biolink:Disease	midline interhemispheric variant of holoprosencephaly	Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter.	Orphanet:93926|UMLS:CN206692|OMIM:157170	mondo.json	Syntelencephaly|middle interhemispheric variant of holoprosencephaly|MIH|MIHF|MIHV|middle interhemispheric fusion variant|MIH type HPE	http://purl.obolibrary.org/obo/MONDO_0019758	UMLS:CN206692|Orphanet:93926	ordo_clinical_subtype
MONDO:0020732	biolink:Disease	progeria		OMIMPS:176670	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020732	https://omim.org/phenotypicSeries/PS176670	
MONDO:0019753	biolink:Disease	localized Castleman disease	Localized Castleman disease (LCD) is the most common form of Castleman disease (CD) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection.	UMLS:C3898582|NCIT:C115200|Orphanet:93685|UMLS:CN206685|GARD:0006005	mondo.json	Unicentric angiofollicular ganglionic hyperplasia|Unicentric angiofollicular lymph hyperplasia|localized Castleman disease|Unicentric Castleman disease|localized Angiofollicular lymphoid hyperplasia	http://purl.obolibrary.org/obo/MONDO_0019753	Orphanet:93685|NCIT:C115200|UMLS:C3898582|UMLS:CN206685	ordo_clinical_subtype
MONDO:0019752	biolink:Disease	pediatric Castleman disease	Pediatric Castleman disease (PCD) is a form of Castleman disease (CD) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms.	Orphanet:93682|UMLS:CN206684	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019752	Orphanet:93682|UMLS:CN206684	ordo_clinical_subtype
MONDO:0019755	biolink:Disease	developmental defect during embryogenesis	A disease that has its basis in the disruption of embryonic morphogenesis.	NCIT:C99267|SCTID:400038003|UMLS:CN206687|Orphanet:93890|UMLS:C1302790|ICD9:759.7	mondo.json	malformation syndrome|embryonic morphogenesis disease|rare developmental defect during embryogenesis|developmental defect during embryogenesis|disorder of embryonic morphogenesis|congenital malformation syndrome	http://purl.obolibrary.org/obo/MONDO_0019755	Orphanet:93890|http://identifiers.org/snomedct/400038003|UMLS:C1302790|NCIT:C99267|UMLS:CN206687	ordo_group_of_disorders|disease_grouping
MONDO:0019754	biolink:Disease	multicentric Castleman disease	Multicentric castleman disease (MCD) is an aggressive form of Castleman disease that mostly results from human herpesvirus 8 (HHV8) infection. It manifests by fever, diffuse lymphadenopathy, hepatosplenomegaly, Involvement of the respiratory system and increased C-reactive protein.	GARD:0009644|Orphanet:570438|GARD:9644|DOID:0111152|OMIM:148000|NCIT:C27855|Orphanet:93686|UMLS:C1334815	mondo.json	multicentric giant lymph node hyperplasia|Human herpesvirus-8-associated multicentric Castleman disease|multicentric Angiofollicular lymphoid hyperplasia|idiopathic multicentric Castleman's disease|MCD|plasmablastic multicentric Castleman disease|PMCD|multicentric plasma cell variant of Castleman's disease|multicentric Castleman's disease|HHV-8-associated multicentric Castleman disease	http://purl.obolibrary.org/obo/MONDO_0019754	NCIT:C27855|UMLS:C1334815|DOID:0111152|Orphanet:570438	ordo_clinical_subtype
MONDO:0019751	biolink:Disease	autoinflammatory syndrome	A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease.	UMLS:C3890737|ICD10CM:M04-M04|NCIT:C119050|MedDRA:10072220|Orphanet:93665|UMLS:C3267073	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019751	NCIT:C119050|Orphanet:93665|UMLS:C3267073|http://purl.bioontology.org/ontology/ICD10CM/M04-M04|UMLS:C3890737	disease_grouping|ordo_group_of_disorders
MONDO:0019750	biolink:Disease	obsolete rare renal disease	OBSOLETE. Any of the forms of urinary system disease that have a rare incidence.	UMLS:CN206681|Orphanet:93626	mondo.json	rare kidney disease|rare urinary system disease	http://purl.obolibrary.org/obo/MONDO_0019750	Orphanet:93626|UMLS:CN206681	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0005119	biolink:Disease	anthrax infection	An infection caused by Bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea. Patients with skin infection develop blisters and ulcers.	DOID:7427|ICD9:022.9|MESH:D000881|GARD:0008157|EFO:0000778|ICD9:022.8|UMLS:C0003175|SCTID:409498004|ICD9:022|NCIT:C84565	mondo.json	anthrax|anthrax disease|Bacillus anthracis disease or disorder|Bacillus anthracis infectious disease|Bacillus anthracis caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005119	NCIT:C84565|UMLS:C0003175|DOID:7427|http://identifiers.org/snomedct/409498004|http://identifiers.org/mesh/D000881	
MONDO:0005116	biolink:Disease	Whipple disease	A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system.	UMLS:CN204440|UMLS:C0023788|ICD10CM:K90.81|EFO:0000775|UMLS:C2930851|ICD10EXP:M14.8*|ICD10EXP:K90.8+|DOID:8476|MedDRA:10047931|ICD9:040.2|MESH:D008061|SCTID:41545003|GARD:0007889|NCIT:C85228|Orphanet:3452	mondo.json	Tropheryma whipplei disease or disorder|Whipple disease|secondary non-tropical sprue|Tropheryma whipplei infectious disease|Tropheryma whippelii infection|intestinal lipodystrophy|Tropheryma whipplei caused disease or disorder|intestinal lipophagic granulomatosis|Whipple's disease	http://purl.obolibrary.org/obo/MONDO_0005116	UMLS:C0023788|UMLS:CN204440|DOID:8476|Orphanet:3452|UMLS:C2930851|http://identifiers.org/snomedct/41545003|http://identifiers.org/mesh/D008061|http://purl.bioontology.org/ontology/ICD10CM/K90.81|NCIT:C85228	ordo_disease
MONDO:0007779	biolink:Disease	autosomal dominant Opitz G/BBB syndrome	Autosomal dominant form of Opitz G/BBB syndrome.	OMIM:145410|Orphanet:306588	mondo.json	GBBB syndrome|autosomal dominant Opitz BBB/G syndrome|Opitz GBBB syndrome, type 2|hypertelorism with esophageal Abnormality and hypospadias|Opitz G/BBB syndrome, autosomal dominant|hypertelorism-hypospadias syndrome|chromosome 22Q11.2 deletion syndrome, Opitz phenotype|Opitz-Frias syndrome|hypospadias-dysphagia syndrome|autosomal dominant Opitz syndrome|BBB syndrome|GBBB2|Opitz oculogenitolaryngeal syndrome, type 2|telecanthus with associated abnormalities|ADOS|telecanthus-hypospadias syndrome|Opitz GBBB syndrome, autosomal dominant|G syndrome|Opitz Bbbg syndrome|Opitz-G syndrome, type 2|Opitz GBBB syndrome, type II	http://purl.obolibrary.org/obo/MONDO_0007779	Orphanet:306588|https://omim.org/entry/145410	ordo_etiological_subtype
MONDO:0005115	biolink:Disease	temporal lobe epilepsy	A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)	SCTID:783739005|MESH:D004833|SCTID:193000002|UMLS:C0014556|EFO:0000773|UMLS:C1842564|OMIMPS:600512|NIFSTD:birnlex_12733|DOID:3328	mondo.json	epilepsy, temporal lobe|temporal lobe epilepsy|epilepsy, familial temporal lobe|epilepsy of temporal lobe	http://purl.obolibrary.org/obo/MONDO_0005115	https://omim.org/phenotypicSeries/PS600512|http://identifiers.org/mesh/D004833|http://identifiers.org/snomedct/783739005|DOID:3328|UMLS:C1842564	
MONDO:0005118	biolink:Disease	human granulocytic ehrlichiosis	A tick-borne, infectious disease caused by Anaplasma phagocytophilum, an obligate intracellular bacterium that is typically transmitted to humans by ticks of the Ixodes ricinus species complex.	ICD9:082.49|DOID:0050025|GARD:0000071|EFO:0000777|SCTID:85708001	mondo.json	human granulocytic ehrlichiosis|HGE|infection by Anaplasma phagocytophilum|human anaplasmosis due to Anaplasma phagocytophilum|human ehrlichial infection, human granulocytic type|human anaplasmosis caused by Anaplasma phagocytophilum|human granulocytic anaplasmosis	http://purl.obolibrary.org/obo/MONDO_0005118	http://identifiers.org/snomedct/85708001|DOID:0050025	gard_rare
MONDO:0007777	biolink:Disease	hypertaurinuric cardiomyopathy		UMLS:C1840385|MESH:C564157|OMIM:145350	mondo.json	hypotaurinemic retinal degeneration and cardiomyopathy|hypertaurinuric cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0007777	http://identifiers.org/mesh/C564157|https://omim.org/entry/145350|UMLS:C1840385	
MONDO:0007778	biolink:Disease	obsolete hypertelorism	OBSOLETE. A condition in which there is an abnormally increased distance between two organs or bodily parts; most often, this term is referring to an increased distance between the orbits (orbital hypertelorism).	SCTID:22006008|OMIM:145400|ICD9:376.41|MESH:D006972|HP:0000316|NCIT:C34715	mondo.json	obsolete hypertelorism (disease)|hypertelorism of orbit|hypertelorism	http://purl.obolibrary.org/obo/MONDO_0007778	http://identifiers.org/mesh/D006972|http://identifiers.org/snomedct/22006008|NCIT:C34715|https://omim.org/entry/145400	
MONDO:0005117	biolink:Disease	Aeromonas hydrophila infectious disease	Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria.	EFO:0000776	mondo.json	Aeromonas hydrophila caused disease or disorder|Aeromonas hydrophila disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005117		
MONDO:0020731	biolink:Disease	arbovirus infection	A viral infection that is transmitted by an arthropod.	SCTID:40610006|NCIT:C34396|EFO:1001269|UMLS:C0003723|MESH:D001102	mondo.json	Arbovirus Infections|Arbovirus infection|Infections, Arbovirus|Arthropod-borne viral infection|arbovirus infection|Arbovirus Infection|Infection, Arbovirus|arthropod-borne viral infection|ARBOVIRUS INFECT|Arboviral disease|Arthropod-Borne Viral Infection	http://purl.obolibrary.org/obo/MONDO_0020731	http://identifiers.org/snomedct/40610006|UMLS:C0003723|http://identifiers.org/mesh/D001102|NCIT:C34396	
MONDO:0005112	biolink:Disease	malignant pleural mesothelioma	A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive.	SCTID:254645002|UMLS:C0812413|EFO:0000770|DOID:7474|NCIT:C7376	mondo.json	malignant pleural mesothelioma|pleura mesothelioma|pleural malignant mesothelioma|pleural diffuse malignant mesothelioma|malignant mesothelioma of pleura|malignant mesothelioma of the pleura	http://purl.obolibrary.org/obo/MONDO_0005112	DOID:7474|UMLS:C0812413|NCIT:C7376|http://identifiers.org/snomedct/254645002	
MONDO:0007775	biolink:Disease	hypersecretion of adrenal androgens, familial		GARD:0009593|MESH:C536845|OMIM:145295|UMLS:C1840387	mondo.json	hypersecretion of adrenal androgens, familial|familial hypersecretion of adrenal androgens	http://purl.obolibrary.org/obo/MONDO_0007775	https://omim.org/entry/145295|http://identifiers.org/mesh/C536845|UMLS:C1840387	gard_rare
MONDO:0005111	biolink:Disease	Epstein-Barr virus infection	An infection that is caused by Epstein-Barr virus.	EFO:0000769|UMLS:C0149678|NCIT:C38759|MESH:D020031	mondo.json	Epstein Barr Virus infections|Herpesvirus 4 infections, Human|infections, Epstein-Barr Virus|Epstein-Barr Virus infection|Human gammaherpesvirus 4 infectious disease|EBV infection|Human Herpesvirus 4 infections|Human gammaherpesvirus 4 caused disease or disorder|Human gammaherpesvirus 4 disease or disorder|EBV infections|infections, EBV|Virus infections, Epstein-Barr|Human Herpes Virus 4 infections	http://purl.obolibrary.org/obo/MONDO_0005111	http://identifiers.org/mesh/D020031|UMLS:C0149678|NCIT:C38759	
NCBITaxon:44556	biolink:OrganismalEntity	Phlebotomus <subgenus>		GC_ID:1	mondo.json	Phlebotomus	http://purl.obolibrary.org/obo/NCBITaxon_44556		
MONDO:0020730	biolink:Disease	carpal tunnel syndrome 1		OMIM:115430	mondo.json	carpal tunnel syndrome|carpal tunnel syndrome, familial|amyotrophy, thenar, of carpal origin|CTS|CTS1	http://purl.obolibrary.org/obo/MONDO_0020730	https://omim.org/entry/115430	
MONDO:0007776	biolink:Disease	hypersensitivity pneumonitis, familial	An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome.	UMLS:C1840386|OMIM:145300|MESH:C536846	mondo.json	hypersensitivity pneumonitis, familial|hereditary hypersensitivity pneumonitis	http://purl.obolibrary.org/obo/MONDO_0007776	https://omim.org/entry/145300|http://identifiers.org/mesh/C536846|UMLS:C1840386	
MONDO:0005114	biolink:Disease	pneumococcal infection	Infections with bacteria of the species streptococcus pneumoniae.	ICD9:041.2|SCTID:16814004|UMLS:C0032269|EFO:0000772|MESH:D011008	mondo.json	pneumoniae infections, Streptococcus|infections, pneumococcal|pneumoniae infection, Streptococcus|Streptococcus pneumoniae disease or disorder|Streptococcus pneumoniae infectious disease|Streptococcus pneumoniae caused disease or disorder|infection, Streptococcus pneumoniae|Streptococcus pneumoniae infections|infections, Streptococcus pneumoniae|Streptococcus pneumoniae infection|pneumococcal infection|infection, pneumococcal	http://purl.obolibrary.org/obo/MONDO_0005114	UMLS:C0032269|http://identifiers.org/snomedct/16814004|http://identifiers.org/mesh/D011008	
MONDO:0007773	biolink:Disease	hyperproglucagonemia		MESH:C564159|UMLS:C1840388|OMIM:145270	mondo.json	glucagon, large molecular weight species of|hyperproglucagonemia	http://purl.obolibrary.org/obo/MONDO_0007773	https://omim.org/entry/145270|http://identifiers.org/mesh/C564159|UMLS:C1840388	
MONDO:0007774	biolink:Disease	hyperreflexia	An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.	MESH:D012021|HP:0001347|OMIM:145290	mondo.json	hyperreflexia (disease)|hyperreflexia|HRX	http://purl.obolibrary.org/obo/MONDO_0007774	http://identifiers.org/mesh/D012021|https://omim.org/entry/145290	
MONDO:0005113	biolink:Disease	bacterial infectious disease	An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections.	MESH:D001424|UMLS:C0004623|ICD9:040.89|ICD9:041.89|NCIT:C2890|ICD9:041.9|SCTID:87628006|EFO:0000771|DOID:104	mondo.json	bacterial disorder|infections, bacterial|infection, bacterial|Bacteria infectious disease|bacterial infectious disease|Bacteria caused disease or disorder|bacterial disease|Bacteria disease or disorder|bacterial infection	http://purl.obolibrary.org/obo/MONDO_0005113	UMLS:C0004623|http://identifiers.org/snomedct/87628006|NCIT:C2890|DOID:104|http://identifiers.org/mesh/D001424	
MONDO:0007771	biolink:Disease	hyperpigmentation with or without hypopigmentation, familial progressive		DOID:0111373|UMLS:C1835039|OMIM:145250	mondo.json	melanosis universalis hereditaria|hyperpigmentation with or without hypopigmentation, familial progressive|hyperpigmentation, familial progressive, 2|FPHH|hyperpigmentation with or without hypopigmentation|macules, hereditary congenital hypopigmented and hyperpigmented|melanosis, universal|hyperpigmentation, familial progressive, 2, formerly	http://purl.obolibrary.org/obo/MONDO_0007771	DOID:0111373|https://omim.org/entry/145250|UMLS:C1835039	
NCBITaxon:1570301	biolink:OrganismalEntity	Saccotheciaceae		GC_ID:1	mondo.json	Saccotheciei|Aureobasidiaceae	http://purl.obolibrary.org/obo/NCBITaxon_1570301		
MONDO:0007772	biolink:Disease	pseudohypoaldosteronism type 2A		Orphanet:88938|UMLS:C1840389|OMIM:145260|SCTID:703254001	mondo.json	pseudohypoaldosteronism, type IIA|hyperpotassemia and hypertension, familial|hypertensive hyperkalemia, familial|PHA2A|Gordon hyperkalemia-hypertension syndrome	http://purl.obolibrary.org/obo/MONDO_0007772	http://identifiers.org/snomedct/703254001|Orphanet:88938|https://omim.org/entry/145260|UMLS:C1840389	ordo_etiological_subtype
MONDO:0005110	biolink:Disease	idiopathic cardiomyopathy	A disease of the heart muscle or myocardium proper whose cause is unknown.	EFO:0000767|NCIT:C53654	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005110	NCIT:C53654	
MONDO:0007770	biolink:Disease	hyperpigmentation of Fuldauer and Kuijpers		OMIM:145200|UMLS:C1840393|MESH:C564164	mondo.json	hyperpigmentation of Fuldauer and Kuijpers	http://purl.obolibrary.org/obo/MONDO_0007770	https://omim.org/entry/145200|http://identifiers.org/mesh/C564164|UMLS:C1840393	
MONDO:0020728	biolink:Disease	hypouricemia, renal 1		UMLS:C0473219|OMIM:220150	mondo.json	renal hypouricemia|hypouricemia, renal|hypouricemia, renal, type 1|hypouricemia, renal, 1|RHUC1|Dalmatian hypouricemia	http://purl.obolibrary.org/obo/MONDO_0020728	https://omim.org/entry/220150|UMLS:C0473219	
PATO:0002098	biolink:NamedThing	neoplastic, metastatic	A disposition inhering in a tumour by virtue of the bearer's disposition to spread and invade distant tissues.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002098		
HP:0002047	biolink:PhenotypicFeature	Malignant hyperthermia	Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine.	SNOMEDCT_US:213026003|MSH:D008305|SNOMEDCT_US:405501007|UMLS:C0024591	mondo.json	Malignant hyperthermia with anaesthesia|Malignant hyperthermia with anesthesia	http://purl.obolibrary.org/obo/HP_0002047		
MONDO:0019749	biolink:Disease	obsolete rare renal tumor	OBSOLETE. Any of the forms of kidney neoplasm that have a rare incidence.	Orphanet:93619	mondo.json	rare kidney neoplasm	http://purl.obolibrary.org/obo/MONDO_0019749	Orphanet:93619	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0020727	biolink:Disease	combined oxidative phosphorylation deficiency 22		DOID:0111498|OMIM:616045	mondo.json	combined oxidative phosphorylation deficiency 22|combined oxidative phosphorylation deficiency type 22|COXPD22	http://purl.obolibrary.org/obo/MONDO_0020727	https://omim.org/entry/616045|DOID:0111498	n_of_one
MONDO:0020726	biolink:Disease	tubulointerstitial kidney disease, autosomal dominant, 2	An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function.	Orphanet:88949|UMLS:C1868139|GARD:0007002|OMIM:174000|NCIT:C123171|UMLS:CN206321	mondo.json	ADTKD-MUC1|medullary cystic kidney disease 1|polycystic kidneys, medullary type|autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1|MUC1-related autosomal dominant tubulointerstitial kidney disease|medullary cystic kidney disease, autosomal dominant|MCKD1|Mckd|ADMCKD1|medullary cystic kidney disease type 1|MUCI-related ADTKD|autosomal dominant medullary cystic kidney disease without hyperuricemia|MUC1-related autosomal dominant medullary cystic kidney disease	http://purl.obolibrary.org/obo/MONDO_0020726	NCIT:C123171|Orphanet:88949|UMLS:C1868139|https://omim.org/entry/174000	ordo_clinical_subtype
PATO:0002096	biolink:NamedThing	neoplastic, non-malignant	A disposition inhering in a tumour by virtue of the bearer's disposition not to progress, invade surrounding tissues or metastasize.		mondo.json	benign	http://purl.obolibrary.org/obo/PATO_0002096		
MONDO:0020725	biolink:Disease	anemia due to chronic disorder	Anemia due to a disorder that is persistent or long-standing in nature.	UMLS:C0002873|ICD9:285.29|NCIT:C35659|SCTID:234347009	mondo.json	anemia due to chronic disorder|anemia of chronic illness|anemia of chronic disorder|anemia of chronic inflammation|anemia of systemic disease|anemia due to Chronic Disorder|anemia of chronic disease|Secondary anemia	http://purl.obolibrary.org/obo/MONDO_0020725	UMLS:C0002873|NCIT:C35659|http://identifiers.org/snomedct/234347009	
PATO:0002097	biolink:NamedThing	neoplastic, malignant	A disposition inhering in a tumour by virtue of the bearer's disposition to progress, invade surrounding tissues or metastasize.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002097		
MONDO:0020724	biolink:Disease	cerebral cavernous malformation 1		OMIM:116860|DOID:0080491	mondo.json	cerebral cavernous malformations 1|cerebral cavernous malformation 1|hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations|cerebral capillary malformations|cavernous angiomatous malformations|cavernous angioma, familial|CCM|cerebral cavernous malformations|cerebral cavernous malformations-1|cavernous malformations of CNS and retina|familial cerebral cavernous malformation 1	http://purl.obolibrary.org/obo/MONDO_0020724	DOID:0080491|https://omim.org/entry/116860	
MONDO:0019746	biolink:Disease	cystinuria type B		Orphanet:93613|UMLS:C1857389	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019746	Orphanet:93613|UMLS:C1857389	ordo_etiological_subtype
MONDO:0020723	biolink:Disease	vitamin D-dependent rickets, type 1A		UMLS:C0268689|OMIM:264700	mondo.json	1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective|vitamin D-dependent rickets, type 1A|vitamin D dependency, type 1|vitamin D hydroxylation-deficient rickets, type 1A|25-hydroxycholecalciferol-1-Hydroxylase deficiency|pseudovitamin D-deficiency rickets, type 1A|VDDR1A|PDDR 1A|vitamin D-dependent rickets, type I|1-Alpha-Hydroxylase deficiency	http://purl.obolibrary.org/obo/MONDO_0020723	UMLS:C0268689|https://omim.org/entry/264700	
MONDO:0019745	biolink:Disease	cystinuria type A		Orphanet:93612|MESH:C565652	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019745	Orphanet:93612|http://identifiers.org/mesh/C565652	ordo_etiological_subtype
MONDO:0019748	biolink:Disease	obsolete rare cause of hypertension		Orphanet:93618|UMLS:CN227685	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019748	Orphanet:93618|UMLS:CN227685	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0020722	biolink:Disease	nephrolithiasis susceptibility caused by SLC26A1		UMLS:C1833683|OMIM:167030	mondo.json	urolithiasis, calcium oxalate|CAON|nephrolithiasis, calcium oxalate	http://purl.obolibrary.org/obo/MONDO_0020722	UMLS:C1833683|https://omim.org/entry/167030	
MONDO:0020721	biolink:Disease	X-linked sideroblastic anemia 1		Orphanet:75563|OMIM:300751|UMLS:C0221018|MESH:C536761|SCTID:62677000|DOID:0060063|GARD:0009456	mondo.json	anemia, sideroblastic, 1, X-linked recessive|anemia sex-linked hypochromic sideroblastic|anemia, sideroblastic, 1|hereditary iron-loading Anemia|SIDBA1|anemia, sideroblastic, X-linked|sideroblastic anemia X-linked|anemia, hereditary sideroblastic|sideroblastic anemia, X-linked|XLSA|anemia, hypochromic|anemia hereditary sideroblastic|ANH1|X-linked sideroblastic anemia|X chromosome-linked sideroblastic anemia|erythroid 5-aminolevulinate synthase deficiency	http://purl.obolibrary.org/obo/MONDO_0020721	Orphanet:75563|http://identifiers.org/mesh/C536761|UMLS:C0221018|DOID:0060063|https://omim.org/entry/300751|http://identifiers.org/snomedct/62677000	ordo_disease
MONDO:0019747	biolink:Disease	obsolete hematological disorder with renal involvement		Orphanet:93614|UMLS:CN227684	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019747	Orphanet:93614|UMLS:CN227684	ordo_group_of_disorders
MONDO:0019742	biolink:Disease	late-onset nephronophthisis		Orphanet:93589	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019742	Orphanet:93589	ordo_clinical_subtype
MONDO:0019741	biolink:Disease	familial cystic renal disease	An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome.	Orphanet:93587|UMLS:CN206655	mondo.json	hereditary cystic kidney disease	http://purl.obolibrary.org/obo/MONDO_0019741	Orphanet:93587|UMLS:CN206655	disease_grouping|ordo_group_of_disorders
MONDO:0019744	biolink:Disease	obsolete rare renal tubular disease		Orphanet:93603|UMLS:C0151747	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019744	Orphanet:93603	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0019743	biolink:Disease	nephropathy secondary to a storage or other metabolic disease		UMLS:CN206659|Orphanet:93593	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019743	UMLS:CN206659|Orphanet:93593	ordo_group_of_disorders|disease_grouping
PATO:0002094	biolink:NamedThing	basophilic	An affinity inhering in a tissue constituent by virtue of the bearer exhibiting a molecular interaction for basic dyes under specific pH conditions.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002094		
MONDO:0019740	biolink:Disease	acquired thrombotic thrombocytopenic purpura	Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.	SCTID:438476003|NCIT:C131653|GARD:0004607|MESH:C536901|ICD10CM:M31.3|Orphanet:93585|UMLS:C2584778|UMLS:C2584777	mondo.json	TTP|idiopathic thrombotic thrombocytopenic purpura|autoimmune thrombotic thrombocytopenic purpura|Moschowitz syndrome|acquired thrombotic thrombocytopenic purpura|acquired ADAMTS13 deficiency|purpura, thrombotic thrombocytopenic|acquired TTP	http://purl.obolibrary.org/obo/MONDO_0019740	Orphanet:93585|UMLS:C2584777|UMLS:C2584778|http://identifiers.org/mesh/C536901|NCIT:C131653|http://identifiers.org/snomedct/438476003	ordo_clinical_subtype|gard_rare
PATO:0002092	biolink:NamedThing	anaplastic	A morphology quality inhering in a neoplastic cell by virtue of the bearer's exhibiting breakdown of cell-cell interaction maintaining tissue architecture, proliferative dysregulation and bizarre modification to nucleus size and shape.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002092		
MONDO:0020729	biolink:Disease	autosomal recessive agammaglobulinemia 1		OMIM:601495	mondo.json	agammaglobulinemia 1, autosomal recessive|agammaglobulinemia, autosomal recessive, due to IGHM defect|AGM1|autosomal recessive agammaglobulinemia 1	http://purl.obolibrary.org/obo/MONDO_0020729	https://omim.org/entry/601495	
HGNC:2708	biolink:NamedThing	DCR			mondo.json		http://identifiers.org/hgnc/2708		
HGNC:2707	biolink:NamedThing	ACE			mondo.json		http://identifiers.org/hgnc/2707		
GO:0007517	biolink:NamedThing	muscle organ development	The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work.		mondo.json		http://purl.obolibrary.org/obo/GO_0007517		
HGNC:2705	biolink:NamedThing	DCN			mondo.json		http://identifiers.org/hgnc/2705		
UBERON:0004538	biolink:AnatomicalEntity	left kidney			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004538		
HGNC:2701	biolink:NamedThing	DCC			mondo.json		http://identifiers.org/hgnc/2701		
UBERON:0004539	biolink:AnatomicalEntity	right kidney			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004539		
UBERON:0016525	biolink:AnatomicalEntity	frontal lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016525		
PATO:0002027	biolink:NamedThing	osmolality			mondo.json		http://purl.obolibrary.org/obo/PATO_0002027		
UBERON:0016527	biolink:AnatomicalEntity	white matter of cerebral lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016527		
UBERON:0016526	biolink:AnatomicalEntity	lobe of cerebral hemisphere			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016526		
UBERON:0016520	biolink:AnatomicalEntity	epithelium of female urethra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016520		
UBERON:0016522	biolink:AnatomicalEntity	cavity of right atrium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016522		
CHEBI:33595	biolink:ChemicalSubstance	cyclic compound	Any molecule that consists of a series of atoms joined together to form a ring.		mondo.json	cyclic compounds	http://purl.obolibrary.org/obo/CHEBI_33595		
CHEBI:33597	biolink:ChemicalSubstance	homocyclic compound	A cyclic compound having as ring members atoms of the same element only.		mondo.json	homocyclic compound|isocyclic compounds|homocyclic compounds	http://purl.obolibrary.org/obo/CHEBI_33597		
CHEBI:33598	biolink:ChemicalSubstance	carbocyclic compound	A homocyclic compound in which all of the ring members are carbon atoms.		mondo.json	carbocyclic compounds|carbocyclic compound|carbocycle	http://purl.obolibrary.org/obo/CHEBI_33598		
UBERON:0016517	biolink:AnatomicalEntity	lumen of jejunum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016517		
HGNC:2711	biolink:NamedThing	DCTN1			mondo.json		http://identifiers.org/hgnc/2711		
UBERON:0004548	biolink:AnatomicalEntity	left eye			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004548		
ENVO:00005750	biolink:NamedThing	grassland soil	A portion of soil which is found in a grassland.		mondo.json		http://purl.obolibrary.org/obo/ENVO_00005750		
UBERON:0004544	biolink:AnatomicalEntity	epididymis epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004544		
HGNC:2719	biolink:NamedThing	DDC			mondo.json		http://identifiers.org/hgnc/2719		
HGNC:2718	biolink:NamedThing	DDB2			mondo.json		http://identifiers.org/hgnc/2718		
UBERON:0004529	biolink:AnatomicalEntity	anatomical projection			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004529		
HGNC:2714	biolink:NamedThing	DCX			mondo.json		http://identifiers.org/hgnc/2714		
UBERON:0004527	biolink:AnatomicalEntity	alveolar process of maxilla			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004527		
UBERON:0004528	biolink:AnatomicalEntity	alveolar ridge of mandible			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004528		
UBERON:0016514	biolink:AnatomicalEntity	cavity of left ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016514		
UBERON:0016513	biolink:AnatomicalEntity	cavity of left atrium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016513		
UBERON:0016516	biolink:AnatomicalEntity	lamina propria of prostatic urethra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016516		
UBERON:0016515	biolink:AnatomicalEntity	muscular layer of prostatic urethra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016515		
PATO:0002039	biolink:NamedThing	biconcave	A concave quality inhering in a bearer by virtue of the bearer's curving inward on both sides or surfaces.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002039		
UBERON:0016510	biolink:AnatomicalEntity	epithelium of male urethra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016510		
UBERON:0016512	biolink:AnatomicalEntity	lumen of duodenum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016512		
UBERON:0016511	biolink:AnatomicalEntity	lamina propria of fundus of stomach			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016511		
UBERON:0016509	biolink:AnatomicalEntity	cavity of right ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016509		
UBERON:0004536	biolink:AnatomicalEntity	lymph vasculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004536		
UBERON:0004537	biolink:AnatomicalEntity	blood vasculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004537		
UBERON:0004534	biolink:AnatomicalEntity	right testis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004534		
UBERON:0004535	biolink:AnatomicalEntity	cardiovascular system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004535		
UBERON:0004533	biolink:AnatomicalEntity	left testis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004533		
UBERON:0004530	biolink:AnatomicalEntity	bony projection			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004530		
HGNC:2728	biolink:NamedThing	DDOST			mondo.json		http://identifiers.org/hgnc/2728		
UBERON:0004518	biolink:AnatomicalEntity	muscle of vertebral column			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004518		
HGNC:2726	biolink:NamedThing	DDIT3			mondo.json		http://identifiers.org/hgnc/2726		
UBERON:0004516	biolink:AnatomicalEntity	smooth muscle tissue of terminal bronchiole			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004516		
UBERON:0004517	biolink:AnatomicalEntity	smooth muscle tissue of respiratory bronchiole			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004517		
UBERON:0016502	biolink:AnatomicalEntity	stomach fundus lumen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016502		
NCBITaxon:188550	biolink:OrganismalEntity	Raphignathae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_188550		
CHEBI:33575	biolink:ChemicalSubstance	carboxylic acid	A carbon oxoacid acid carrying at least one -C(=O)OH group and having the structure RC(=O)OH, where R is any any monovalent functional group. Carboxylic acids are the most common type of organic acid.		mondo.json	Carbonsaeuren|carboxylic acids|Carbonsaeure|acido carboxilico|carboxylic acid|acides carboxyliques|acide carboxylique|RC(=O)OH|acidos carboxilicos|Karbonsaeure	http://purl.obolibrary.org/obo/CHEBI_33575		
PATO:0002045	biolink:NamedThing	dendritic	A branched quality inhering in a bearer by virtue of the bearer's having smaller branches arising from larger branches. Resembling a tree in branching structure.		mondo.json	dendriform|dendroid|dendroidal	http://purl.obolibrary.org/obo/PATO_0002045		
CHEBI:33579	biolink:ChemicalSubstance	main group molecular entity	A molecular entity containing one or more atoms from any of groups 1, 2, 13, 14, 15, 16, 17, and 18 of the periodic table.		mondo.json	main group compounds|main group molecular entities	http://purl.obolibrary.org/obo/CHEBI_33579		
HGNC:2731	biolink:NamedThing	DDR2			mondo.json		http://identifiers.org/hgnc/2731		
UBERON:0004521	biolink:AnatomicalEntity	vasculature of muscle organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004521		
UBERON:0004522	biolink:AnatomicalEntity	vasculature of musculoskeletal system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004522		
UBERON:0004520	biolink:AnatomicalEntity	striated muscle tissue of prostate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004520		
GO:0007507	biolink:NamedThing	heart development	The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.		mondo.json	cardiac development|dorsal vessel development	http://purl.obolibrary.org/obo/GO_0007507		
UBERON:0004509	biolink:AnatomicalEntity	skeletal muscle tissue of trapezius			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004509		
ENVO:00005748	biolink:NamedThing	dry soil	Soil which has little to no water content and in which minerals and other soluble chemical entities have either bonded or become adsorbed to sold particles due to insufficient water availability.		mondo.json		http://purl.obolibrary.org/obo/ENVO_00005748		
HGNC:2736	biolink:NamedThing	DDX11			mondo.json		http://identifiers.org/hgnc/2736		
UBERON:0004508	biolink:AnatomicalEntity	skeletal muscle tissue of levator palpebrae superioris			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004508		
CHEBI:33583	biolink:ChemicalSubstance	noble gas molecular entity	A main group molecular entity containing one or more atoms of any noble gas.		mondo.json	noble gas molecular entities|noble gas compounds|noble gas molecular entity	http://purl.obolibrary.org/obo/CHEBI_33583		
NCBITaxon:188543	biolink:OrganismalEntity	Demodicidae		GC_ID:1	mondo.json	follicle mites	http://purl.obolibrary.org/obo/NCBITaxon_188543		
NCBITaxon:188544	biolink:OrganismalEntity	Demodex		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_188544		
UBERON:0004515	biolink:AnatomicalEntity	smooth muscle tissue of bronchiole			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004515		
NCBITaxon:188547	biolink:OrganismalEntity	Cheyletoidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_188547		
CHEBI:33582	biolink:ChemicalSubstance	carbon group molecular entity			mondo.json	carbon group molecular entity|carbon group molecular entities	http://purl.obolibrary.org/obo/CHEBI_33582		
MONDO:0007706	biolink:Disease	cavernous hemangiomas of face-supraumbilical midline raphe syndrome		SCTID:234140000|UMLS:C0472694|Orphanet:2124|GARD:0008524|OMIM:140850|MESH:C538144	mondo.json	hemangiomas, cavernous, of face and supraumbilical MIDLINE raphe|sternal nonunion with supraumbilical raphe|supraumbilical midabdominal raphe and facial cavernous hemangiomas|hemangiomas cavernous of face supraumbilical midline raphe|raphe, supraumbilical Midline, with cavernous Facial hemangiomas	http://purl.obolibrary.org/obo/MONDO_0007706	http://identifiers.org/mesh/C538144|https://omim.org/entry/140850|http://identifiers.org/snomedct/234140000|UMLS:C0472694	ordo_malformation_syndrome
MONDO:0007707	biolink:Disease	hemangiomas of small intestine	A hemangioma that involves the small intestine.	MESH:C564201|OMIM:140900|UMLS:C1841654	mondo.json	hemangiomas of small intestine|hemangioma of small intestine|small intestine hemangioma	http://purl.obolibrary.org/obo/MONDO_0007707	https://omim.org/entry/140900|http://identifiers.org/mesh/C564201|UMLS:C1841654	
MONDO:0007704	biolink:Disease	osteoarthritis susceptibility 2		OMIM:140600	mondo.json	osteoarthritis caused by mutation in MATN3|hand osteoarthritis|OS2|osteoarthritis susceptibility 2|MATN3 osteoarthritis|OADIP|osteoarthritis of distal interphalangeal joints|osteoarthritis susceptibility type 2|Dipoa|Heberden nodes	http://purl.obolibrary.org/obo/MONDO_0007704	https://omim.org/entry/140600	predisposition
MONDO:0007705	biolink:Disease	Heinz body anemia		DOID:0111363|UMLS:C0700299|MedDRA:10002058|OMIM:140700|MESH:C563030|GARD:0010718|HP:0005511|Orphanet:178330	mondo.json	Heinz body anemias, alpha-|Heinz body anemias	http://purl.obolibrary.org/obo/MONDO_0007705	UMLS:C0700299|https://omim.org/entry/140700|DOID:0111363|http://identifiers.org/mesh/C563030	ordo_disease
MONDO:0007702	biolink:Disease	heart-hand syndrome type 3	Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.	OMIM:140450|SCTID:721013001|GARD:0002614|Orphanet:1342|MESH:C535853|UMLS:C1841657	mondo.json	heart-limb syndrome type 3|Cardiomelic syndrome type 3|upper limb malformations and congenital cardiac anomalies|heart-hand syndrome, Spanish type|brachydactyly and intraventricular conduction defect|atriodigital dysplasia type 3	http://purl.obolibrary.org/obo/MONDO_0007702	https://omim.org/entry/140450|Orphanet:1342|http://identifiers.org/mesh/C535853|http://identifiers.org/snomedct/721013001|UMLS:C1841657	ordo_malformation_syndrome
MONDO:0007703	biolink:Disease	obsolete heart, malformation of			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007703		
MONDO:0007700	biolink:Disease	hawkinsinuria	Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.	SCTID:414380008|OMIM:140350|MESH:C535845|GARD:0005668|UMLS:C2931042|Orphanet:2118|DOID:0111362	mondo.json	4-hydroxyphenylpyruvic acid dioxygenase deficiency|4-HPPD deficiency|4-alpha-hydroxyphenylpyruvate hydroxylase deficiency|hawkinsinuria	http://purl.obolibrary.org/obo/MONDO_0007700	DOID:0111362|http://identifiers.org/snomedct/414380008|UMLS:C2931042|http://identifiers.org/mesh/C535845|Orphanet:2118|https://omim.org/entry/140350	gard_rare|ordo_disease
MONDO:0007701	biolink:Disease	progressive familial heart block type II		DOID:0111075|GARD:0004879|OMIM:140400|MESH:C564202|SCTID:698251009|ICD9:426.6	mondo.json	PFHBII|progressive familial heart block, type II|heart block progressive familial type 2|progressive familial heart block type 2|PFHB2	http://purl.obolibrary.org/obo/MONDO_0007701	https://omim.org/entry/140400|DOID:0111075|http://identifiers.org/mesh/C564202|http://identifiers.org/snomedct/698251009	gard_rare
HGNC:2745	biolink:NamedThing	DDX3X			mondo.json		http://identifiers.org/hgnc/2745		
CHEBI:33558	biolink:ChemicalSubstance	alpha-amino-acid anion	An amino-acid anion obtained by deprotonation of any alpha-amino acid.		mondo.json	alpha-amino-acid anions|alpha-amino-acid anion|alpha-amino acid anions	http://purl.obolibrary.org/obo/CHEBI_33558		
CHEBI:33559	biolink:ChemicalSubstance	s-block element atom			mondo.json	s-block elements|s-block element	http://purl.obolibrary.org/obo/CHEBI_33559		
UBERON:0016565	biolink:AnatomicalEntity	cerebral blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016565		
UBERON:0016566	biolink:AnatomicalEntity	pit			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016566		
CHEBI:33552	biolink:ChemicalSubstance	sulfonic acid derivative			mondo.json	derivatives of sulfonic acid|sulfonic acid derivative|sulfonic acid derivatives	http://purl.obolibrary.org/obo/CHEBI_33552		
UBERON:0004581	biolink:AnatomicalEntity	systemic venous system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004581		
UBERON:0004582	biolink:AnatomicalEntity	venous system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004582		
MONDO:0007717	biolink:Disease	hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain		UMLS:C1840647|OMIM:142309	mondo.json	HEMOGLOBIN--variants FOR which the chain carrying the mutation IS unknown or uncertain	http://purl.obolibrary.org/obo/MONDO_0007717	UMLS:C1840647|https://omim.org/entry/142309	
UBERON:0016550	biolink:AnatomicalEntity	spinal cord column			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016550		
MONDO:0007718	biolink:Disease	hepatic adenomas, familial		MESH:C564190|OMIM:142330|UMLS:C1840646|DOID:0111366	mondo.json	hepatic adenoma, somatic|hepatic adenomas, familial|liver cell adenomas, familial	http://purl.obolibrary.org/obo/MONDO_0007718	DOID:0111366|http://identifiers.org/mesh/C564190|UMLS:C1840646|https://omim.org/entry/142330	
MONDO:0007715	biolink:Disease	hemolytic poikilocytic anemia due to reduced ankyrin binding sites		UMLS:C1841622|MESH:C564197|OMIM:141700	mondo.json	hemolytic poikilocytic anemia due to reduced ankyrin binding sites	http://purl.obolibrary.org/obo/MONDO_0007715	http://identifiers.org/mesh/C564197|UMLS:C1841622|https://omim.org/entry/141700	
UBERON:0016552	biolink:AnatomicalEntity	phlegm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016552		
MONDO:0007716	biolink:Disease	alpha thalassemia-intellectual disability syndrome type 1	Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.	Orphanet:98791|ICD10CM:D56.0|DOID:0110029|UMLS:C0475813|MESH:C563050|UMLS:C0795917|ICD9:282.49|SCTID:277918006|DECIPHER:65|OMIM:141750	mondo.json	ATR-16 syndrome|alpha-thalassemia/intellectual disability syndrome, deletion-type|ATR syndrome linked to chromosome 16|ALPHA-thalassemia/mental retardation syndrome, chromosome 16-related|Alpha thalassemia-mental retardation syndrome|Alpha-thalassemia/mental retardation syndrome, deletion-type|Hemoglobin H-related intellectual disability|alpha-thalassemia/intellectual disability syndrome, type 1|mental retardation with Hemoglobin H|Hemoglobin H-related mental retardation|alpha-thalassemia-intellectual disability syndrome linked to chromosome 16|alpha-thalassemia/mental retardation syndrome, deletion-type|Alpha thalassemia-intellectual disability syndrome, deletion type|Alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16|intellectual disability with Hemoglobin H|alpha thalassemia-retardation syndrome|alpha-thalassemia/mental retardation syndrome, type 1|ATR, deletion-type|ATR syndrome, deletion type|chromosome 16P deletion syndrome|ALPHA-thalassemia/intellectual disability syndrome, chromosome 16-related|Alpha thalassemia-intellectual disability syndrome|alpha thalassemia-intellectual disability syndrome, deletion type|Alpha-thalassemia/intellectual disability syndrome, deletion-type	http://purl.obolibrary.org/obo/MONDO_0007716	https://omim.org/entry/141750|UMLS:C0795917|http://identifiers.org/snomedct/277918006|Orphanet:98791|DOID:0110029|http://identifiers.org/mesh/C563050|UMLS:C0475813	ordo_disease
UBERON:0016551	biolink:AnatomicalEntity	subdivision of spinal cord ventral column			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016551		
MONDO:0007713	biolink:Disease	clonic hemifacial spasm		OMIM:141405|MESH:C564198|ICD10CM:G51.3|UMLS:C3536936|UMLS:C1841639|Orphanet:221083	mondo.json	hemifacial spasm|hemifacial spasm, familial|focal myoclonus of face|facial hemispasm	http://purl.obolibrary.org/obo/MONDO_0007713	http://identifiers.org/mesh/C564198|UMLS:C1841639|Orphanet:221083|UMLS:C3536936|https://omim.org/entry/141405|http://purl.bioontology.org/ontology/ICD10CM/G51.3	ordo_disease
MONDO:0007714	biolink:Disease	obsolete migraine, familial hemiplegic, 1			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007714		
MONDO:0007711	biolink:Disease	Bencze syndrome	Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.	UMLS:C1841640|GARD:0002633|MESH:C564199|SCTID:733046006|OMIM:141350|Orphanet:1241	mondo.json	hemifacial hyperplasia strabismus|hemifacial hyperplasia-strabismus syndrome|Bencze syndrome|hemifacial hyperplasia with strabismus	http://purl.obolibrary.org/obo/MONDO_0007711	Orphanet:1241|http://identifiers.org/mesh/C564199|http://identifiers.org/snomedct/733046006|UMLS:C1841640|https://omim.org/entry/141350	ordo_malformation_syndrome|gard_rare
MONDO:0007712	biolink:Disease	oculoauriculovertebral spectrum with radial defects	Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.	GARD:0003653|SCTID:726722009|OMIM:141400|Orphanet:2549	mondo.json	oculoauriculovertebral spectrum with radial defect|Moeschler-Clarren syndrome|Goldenhar syndrome with ipsilateral radial defect|microsomia hemifacial radial defects|hemifacial microsomia-radial defects syndrome|hemifacial microsomia with radial defects|Oavs with radial defect|Moeschler Clarren syndrome	http://purl.obolibrary.org/obo/MONDO_0007712	Orphanet:2549|https://omim.org/entry/141400|http://identifiers.org/snomedct/726722009	ordo_malformation_syndrome
MONDO:0007710	biolink:Disease	facial hemiatrophy	Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.	OMIM:141300|SCTID:718224004|GARD:0007338|UMLS:C0015458|DOID:1757|NCIT:C116916|Orphanet:1214|MESH:D005150	mondo.json	HFA|hemifacial atrophy|parry-Romberg syndrome|progressive hemifacial atrophy|hemifacial atrophy, progressive|PHA|progressive facial hemiatrophy|Romberg syndrome|Romberg hemi-facial atrophy	http://purl.obolibrary.org/obo/MONDO_0007710	NCIT:C116916|http://identifiers.org/mesh/D005150|http://identifiers.org/snomedct/718224004|DOID:1757|https://omim.org/entry/141300|UMLS:C0015458|Orphanet:1214	ordo_disease
UBERON:0016554	biolink:AnatomicalEntity	white matter of midbrain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016554		
UBERON:0016553	biolink:AnatomicalEntity	respiratory system mucus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016553		
CHEBI:33561	biolink:ChemicalSubstance	d-block element atom			mondo.json	d-block element|d-block elements	http://purl.obolibrary.org/obo/CHEBI_33561		
UBERON:0004572	biolink:AnatomicalEntity	arterial system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004572		
UBERON:0004573	biolink:AnatomicalEntity	systemic artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004573		
CHEBI:33563	biolink:ChemicalSubstance	glycolipid	Any member of class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar part acylated by one or more fatty acids and the glycerol part may be absent.		mondo.json	glycolipids|Glycolipid	http://purl.obolibrary.org/obo/CHEBI_33563		
UBERON:0004571	biolink:AnatomicalEntity	systemic arterial system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004571		
MONDO:0007708	biolink:Disease	Kasabach-Merritt syndrome	Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma.	NCIT:C3821|GARD:0000070|ICD9:287.39|UMLS:C0221025|MESH:D059885|MedDRA:10058423|SCTID:86635005|OMIM:141000|Orphanet:2330	mondo.json	hemangioma-hemorrhage syndrome|hemangioma-thrombocytopenia syndrome|hemangiomatosis with thrombocytopenia|Kasabach Merritt phenomenon|hemangioma thrombocytopenia syndrome|thrombocytopenia-hemangioma syndrome|KMP|thrombopenia-hemangioma syndrome|Kasabach-Merritt syndrome|Kasabach Merritt syndrome	http://purl.obolibrary.org/obo/MONDO_0007708	NCIT:C3821|Orphanet:2330|UMLS:C0221025|http://identifiers.org/snomedct/86635005|http://identifiers.org/mesh/D059885|https://omim.org/entry/141000	ordo_clinical_situation|gard_rare
MONDO:0007709	biolink:Disease	hematuria, benign familial		DOID:0111365|OMIM:141200|MESH:C562476|Orphanet:97562	mondo.json	thin-basement-membrane nephropathy|thin membrane nephropathy|BFH|hematuria, familial benign|hematuria, benign familial	http://purl.obolibrary.org/obo/MONDO_0007709	https://omim.org/entry/141200|DOID:0111365|Orphanet:97562|http://identifiers.org/mesh/C562476	
CHEBI:33560	biolink:ChemicalSubstance	p-block element atom	Any main group element atom belonging to the p-block of the periodic table.		mondo.json	p-block element|p-block elements	http://purl.obolibrary.org/obo/CHEBI_33560		
UBERON:0016540	biolink:AnatomicalEntity	occipital cortex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016540		
PATO:0002007	biolink:NamedThing	convex 3-D shape	A complete three dimensional shape in which for every line connecting pair of points on the object is within the object. Or: a shape lacking cavities. Contrast: concave.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002007		
PATO:0002005	biolink:NamedThing	concavity	Surface shape that refers to the inward or outward curvature of the surface.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002005		
UBERON:0016549	biolink:AnatomicalEntity	central nervous system white matter layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016549		
UBERON:0016548	biolink:AnatomicalEntity	central nervous system gray matter layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016548		
PATO:0002006	biolink:NamedThing	2-D shape	A shape that inheres in a 2 dimensional entity, such as a cross section or projection of a 3 dimensional entity.		mondo.json	2-D projection|cross-sectional	http://purl.obolibrary.org/obo/PATO_0002006		
UBERON:0016542	biolink:AnatomicalEntity	limbic cortex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016542		
PATO:0002009	biolink:NamedThing	branchiness	A shape quality inhering in a bearer by virtue of the degree to which there are subdivisions or offshoots in a bearer entity.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002009		
UBERON:0016545	biolink:AnatomicalEntity	pharyngeal ectoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016545		
CHEBI:57504	biolink:ChemicalSubstance	L-dopa zwitterion	An amino acid zwitterion obtained from the transfer of a proton from the carboxy group to the amino group of L-dopa. Major microspecies at pH 7.3.		mondo.json	(2S)-2-ammonio-3-(3,4-dihydroxyphenyl)propanoate|L-dopa|(2S)-2-azaniumyl-3-(3,4-dihydroxyphenyl)propanoate	http://purl.obolibrary.org/obo/CHEBI_57504		
HGNC:2771	biolink:NamedThing	CFD			mondo.json		http://identifiers.org/hgnc/2771		
HGNC:2770	biolink:NamedThing	DES			mondo.json		http://identifiers.org/hgnc/2770		
UBERON:0016530	biolink:AnatomicalEntity	parietal cortex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016530		
UBERON:0004549	biolink:AnatomicalEntity	right eye			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004549		
UBERON:0016536	biolink:AnatomicalEntity	white matter of limbic lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016536		
UBERON:0016535	biolink:AnatomicalEntity	white matter of occipital lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016535		
UBERON:0016538	biolink:AnatomicalEntity	temporal cortex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016538		
UBERON:0016531	biolink:AnatomicalEntity	white matter of parietal lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016531		
UBERON:0016534	biolink:AnatomicalEntity	white matter of temporal lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016534		
UBERON:0004550	biolink:AnatomicalEntity	gastroesophageal sphincter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004550		
PATO:0002011	biolink:NamedThing	neoplastic	A structural quality which is held by a bearer when the latter's disposition the presence of abnormally proliferating masses of cells.		mondo.json	tumorous	http://purl.obolibrary.org/obo/PATO_0002011		
UBERON:0016529	biolink:AnatomicalEntity	cortex of cerebral lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016529		
PATO:0002014	biolink:NamedThing	structure, cavities	A structural quality that inheres in a bearer by virtue of the bearer's containing hollow areas.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002014		
CHEBI:33543	biolink:ChemicalSubstance	sulfonate	The sulfur oxoanion formed by deprotonation of sulfonic acid.		mondo.json	sulfonates|hydridotrioxidosulfate(1-)|SHO3(-)|[SHO3](-)	http://purl.obolibrary.org/obo/CHEBI_33543		
UBERON:0016528	biolink:AnatomicalEntity	white matter of frontal lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016528		
UBERON:0004554	biolink:AnatomicalEntity	hindlimb digital artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004554		
UBERON:0004552	biolink:AnatomicalEntity	digital artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004552		
UBERON:0004553	biolink:AnatomicalEntity	forelimb digital artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004553		
HP:0100247	biolink:PhenotypicFeature	Recurrent singultus	A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc.	MSH:D006606|SNOMEDCT_US:65958008|UMLS:C0744897|UMLS:C0019521	mondo.json	Hiccups|Recurrent hiccough|Recurrent synchronous diaphragmatic flutter|Hiccup|Recurrent hiccup	http://purl.obolibrary.org/obo/HP_0100247		
GO:0030017	biolink:NamedThing	sarcomere	The repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs.		mondo.json		http://purl.obolibrary.org/obo/GO_0030017		
GO:0030016	biolink:NamedThing	myofibril	The contractile element of skeletal and cardiac muscle; a long, highly organized bundle of actin, myosin, and other proteins that contracts by a sliding filament mechanism.		mondo.json		http://purl.obolibrary.org/obo/GO_0030016		
PATO:0002422	biolink:NamedThing	acinar	Pertaining to the individual parts making up an aggregate fruit like a many-lobed "berry," such as a raspberry.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002422		
GO:0019693	biolink:NamedThing	ribose phosphate metabolic process	The chemical reactions and pathways involving ribose phosphate, any phosphorylated ribose sugar.		mondo.json	ribose phosphate metabolism	http://purl.obolibrary.org/obo/GO_0019693		
HP:0100257	biolink:PhenotypicFeature	Ectrodactyly	A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.	SNOMEDCT_US:81208006|UMLS:C0265554|MSH:C574275|SNOMEDCT_US:13624003	mondo.json	Cleft hand|Lobster claw hand	http://purl.obolibrary.org/obo/HP_0100257		hposlim_core
HP:0100255	biolink:PhenotypicFeature	Metaphyseal dysplasia	The presence of dysplastic regions in metaphyseal regions.	UMLS:C0265294|SNOMEDCT_US:27837003|MSH:C536252	mondo.json		http://purl.obolibrary.org/obo/HP_0100255		
GO:0030003	biolink:NamedThing	cellular cation homeostasis	Any process involved in the maintenance of an internal steady state of cations at the level of a cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0030003		
GO:0030001	biolink:NamedThing	metal ion transport	The directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	heavy metal ion transport|divalent metal ion transport|divalent metal ion export|metal ion export	http://purl.obolibrary.org/obo/GO_0030001		
HGNC:20499	biolink:NamedThing	L2HGDH			mondo.json		http://identifiers.org/hgnc/20499		
HP:0100267	biolink:PhenotypicFeature	Lip pit	A depression located on a lip.	UMLS:C0341059	mondo.json		http://purl.obolibrary.org/obo/HP_0100267		hposlim_core
HP:0100261	biolink:PhenotypicFeature	Abnormal tendon morphology	An abnormality of the structure or form of the tendons, also often called sinews.	UMLS:C4021026	mondo.json	Abnormality of the sinew|Abnormal shape of tendon	http://purl.obolibrary.org/obo/HP_0100261		
HGNC:20492	biolink:NamedThing	COA8			mondo.json		http://identifiers.org/hgnc/20492		
PATO:0002444	biolink:NamedThing	mineralized	A composition quality inhering in a bearer by virtue of the bearer's being composed of or possessing inorganic material.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002444		
GO:0032649	biolink:NamedThing	regulation of interferon-gamma production	Any process that modulates the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon.		mondo.json	regulation of interferon-gamma biosynthetic process|regulation of type II interferon production|regulation of interferon-gamma secretion	http://purl.obolibrary.org/obo/GO_0032649		
NCBITaxon:2499398	biolink:OrganismalEntity	Arnidovirineae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2499398		
HP:0100276	biolink:PhenotypicFeature	Skin pit	A small, skin-lined tract that leads from the surface to deep within the tissues.	UMLS:C4022172|UMLS:C4020712	mondo.json	Skin pits|Skin pit	http://purl.obolibrary.org/obo/HP_0100276		
RO:0002022	biolink:NamedThing	directly regulated by			mondo.json		http://purl.obolibrary.org/obo/RO_0002022		
RO:0002023	biolink:NamedThing	directly negatively regulated by	Process(P2) is directly negatively regulated by process(P1) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2).  For example, if protein A has protein binding activity(P1) that targets protein B and this binding  negatively regulates the kinase activity (P2) of protein B then P2 directly negatively regulated by P1.		mondo.json		http://purl.obolibrary.org/obo/RO_0002023		
GO:0044699	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0044699		
RO:0002024	biolink:NamedThing	directly positively regulated by	Process(P2) is directly postively regulated by process(P1) iff: P1 positively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2).  For example, if protein A has protein binding activity(P1) that targets protein B and this binding positively regulates the kinase activity (P2) of protein B then P2 is directly postively regulated by P1.		mondo.json		http://purl.obolibrary.org/obo/RO_0002024		
RO:0002025	biolink:NamedThing	has effector activity	A 'has effector activity' B if A and B are GO molecular functions (GO_0003674),  A 'has component activity' B and B is the effector (output function) of B.  Each compound function has only one effector activity.		mondo.json		http://purl.obolibrary.org/obo/RO_0002025		
GO:0042030	biolink:NamedThing	ATPase inhibitor activity	Binds to and stops, prevents or reduces an ATP hydrolysis activity.		mondo.json	adenosinetriphosphatase inhibitor	http://purl.obolibrary.org/obo/GO_0042030		
RO:0002015	biolink:NamedThing	has positive regulatory component activity	A relationship that holds between a GO molecular function and a component of that molecular function that positively regulates the activity of the whole.  More formally, A 'has regulatory component activity' B iff :A and B are GO molecular functions (GO_0003674), A has_component B and A is positively regulated by B.		mondo.json		http://purl.obolibrary.org/obo/RO_0002015		
RO:0002017	biolink:NamedThing	has component activity			mondo.json		http://purl.obolibrary.org/obo/RO_0002017		
RO:0002018	biolink:NamedThing	has component process	w 'has process component' p if p and w are processes,  w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type.		mondo.json		http://purl.obolibrary.org/obo/RO_0002018		
NCBITaxon:2499399	biolink:OrganismalEntity	Cornidovirineae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2499399		
HGNC:20473	biolink:NamedThing	BRIP1			mondo.json		http://identifiers.org/hgnc/20473		
HGNC:20474	biolink:NamedThing	TMC8			mondo.json		http://identifiers.org/hgnc/20474		
RO:0002013	biolink:NamedThing	has regulatory component activity	A 'has regulatory component activity' B if A and B are GO molecular functions (GO_0003674), A has_component B and A is regulated by B.		mondo.json		http://purl.obolibrary.org/obo/RO_0002013		
RO:0002014	biolink:NamedThing	has negative regulatory component activity	A relationship that holds between a GO molecular function and a component of that molecular function that negatively regulates the activity of the whole.  More formally, A 'has regulatory component activity' B iff :A and B are GO molecular functions (GO_0003674), A has_component B and A is negatively regulated by B.		mondo.json		http://purl.obolibrary.org/obo/RO_0002014		
GO:0042044	biolink:NamedThing	fluid transport	The directed movement of substances that are in liquid form in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0042044		
MONDO:0032591	biolink:Disease	hyperparathyroidism, transient neonatal		OMIM:618188	mondo.json	hyperparathyroidism, transient neonatal|HRPTTN	http://purl.obolibrary.org/obo/MONDO_0032591	https://omim.org/entry/618188	
MONDO:0032592	biolink:Disease	cardiomyopathy, dilated, 2c		OMIM:618189	mondo.json	CMD2C|CARDIOMYOPATHY, DILATED, 2C	http://purl.obolibrary.org/obo/MONDO_0032592	https://omim.org/entry/618189	
MONDO:0032590	biolink:Disease	ovarian dysgenesis 8		OMIM:618187|DOID:0080500	mondo.json	ODG8|OVARIAN DYSGENESIS 8	http://purl.obolibrary.org/obo/MONDO_0032590	https://omim.org/entry/618187|DOID:0080500	
CHR:9606-chr12q15-q21.1	biolink:NamedThing	12q15-q21.1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr12q15-q21.1		
RO:0002005	biolink:NamedThing	innervated_by			mondo.json		http://purl.obolibrary.org/obo/RO_0002005		
RO:0002007	biolink:NamedThing	bounding layer of	X outer_layer_of Y iff: . X :continuant that bearer_of some PATO:laminar . X part_of Y . exists Z :surface . X has_boundary Z . Z boundary_of Y  has_boundary: http://purl.obolibrary.org/obo/RO_0002002 boundary_of: http://purl.obolibrary.org/obo/RO_0002000		mondo.json		http://purl.obolibrary.org/obo/RO_0002007		
MONDO:0032599	biolink:Disease	immunodeficiency 15a		OMIM:618204	mondo.json	IMMUNODEFICIENCY 15A|IMD15A	http://purl.obolibrary.org/obo/MONDO_0032599	https://omim.org/entry/618204	
MONDO:0032597	biolink:Disease	myasthenic syndrome, congenital, 24, presynaptic		OMIM:618198	mondo.json	MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC|CMS24	http://purl.obolibrary.org/obo/MONDO_0032597	https://omim.org/entry/618198	
MONDO:0032598	biolink:Disease	developmental and epileptic encephalopathy, 68		OMIM:618201	mondo.json	DEE68|EIEE68|developmental and epileptic encephalopathy 68|epileptic encephalopathy, early infantile, 68|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68	http://purl.obolibrary.org/obo/MONDO_0032598	https://omim.org/entry/618201	
UBERON:0006800	biolink:AnatomicalEntity	anatomical line			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006800		
MONDO:0032596	biolink:Disease	myasthenic syndrome, congenital, 23, presynaptic		OMIM:618197	mondo.json	CMS23|MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC	http://purl.obolibrary.org/obo/MONDO_0032596	https://omim.org/entry/618197	
MONDO:0032594	biolink:Disease	intellectual developmental disorder and retinitis pigmentosa; IDDRP		OMIM:618195	mondo.json	INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA|IDDRP	http://purl.obolibrary.org/obo/MONDO_0032594	https://omim.org/entry/618195	
OBO:mondo#DUBIOUS	biolink:NamedThing	dubious synonym			mondo.json		http://purl.obolibrary.org/obo/mondo#DUBIOUS		
HP:0100299	biolink:PhenotypicFeature	Muscle fiber inclusion bodies		UMLS:C4022159	mondo.json	Muscle fibre inclusion bodies	http://purl.obolibrary.org/obo/HP_0100299		
RO:0002000	biolink:NamedThing	2D boundary of	a relation between a 2D immaterial entity (the boundary) and a material entity, in which the boundary delimits the material entity		mondo.json		http://purl.obolibrary.org/obo/RO_0002000		
RO:0002002	biolink:NamedThing	has 2D boundary	a relation between a material entity and a 2D immaterial entity (the boundary), in which the boundary delimits the material entity		mondo.json		http://purl.obolibrary.org/obo/RO_0002002		
CHEBI:140503	biolink:ChemicalSubstance	kaolin	An aluminosilicate soft white mineral named after the hill in China (Kao-ling) from which it was mined for centuries. In its natural state kaolin is a white, soft powder consisting principally of the mineral kaolinite, and varying amounts of other minerals such as muscovite, quartz, feldspar, and anatase. It is used in the manufacture of china and porcelain and also widely used in the production of paper, rubber, paint, drying agents, and many other products.		mondo.json	porcelain clay|argilla|white bole|Bolus alba|China clay	http://purl.obolibrary.org/obo/CHEBI_140503		
HGNC:32456	biolink:NamedThing	ALG11			mondo.json		http://identifiers.org/hgnc/32456		
GO:0042060	biolink:NamedThing	wound healing	The series of events that restore integrity to a damaged tissue, following an injury.		mondo.json		http://purl.obolibrary.org/obo/GO_0042060		
HGNC:20456	biolink:NamedThing	TRAF7			mondo.json		http://identifiers.org/hgnc/20456		
GO:0042068	biolink:NamedThing	regulation of pteridine metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving pteridine.		mondo.json	regulation of pteridine metabolism	http://purl.obolibrary.org/obo/GO_0042068		
OBO:nbo#by_means	biolink:NamedThing	by_means			mondo.json		http://purl.obolibrary.org/obo/nbo#by_means		
GO:0042069	biolink:NamedThing	regulation of catecholamine metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving catecholamines.		mondo.json	regulation of catecholamine metabolism	http://purl.obolibrary.org/obo/GO_0042069		
CHEBI:33497	biolink:ChemicalSubstance	transition element molecular entity	A molecular entity containing one or more atoms of a transition element.		mondo.json	transition metal molecular entity|transition element molecular entities	http://purl.obolibrary.org/obo/CHEBI_33497		
GO:0019637	biolink:NamedThing	organophosphate metabolic process	The chemical reactions and pathways involving organophosphates, any phosphate-containing organic compound.		mondo.json	organophosphate metabolism	http://purl.obolibrary.org/obo/GO_0019637		
HGNC:20449	biolink:NamedThing	PADI6			mondo.json		http://identifiers.org/hgnc/20449		
GO:0042073	biolink:NamedThing	intraciliary transport	The bidirectional movement of large protein complexes along microtubules within a cilium, mediated by motor proteins.		mondo.json	intraflagellar transport involved in cilium organization|intraflagellar transport|IFT|intraflagellar transport involved in microtubule-based flagellum organisation	http://purl.obolibrary.org/obo/GO_0042073		
GO:0042074	biolink:NamedThing	cell migration involved in gastrulation	The migration of individual cells within the blastocyst to help establish the multi-layered body plan of the organism (gastrulation). For example, the migration of cells from the surface to the interior of the embryo (ingression).		mondo.json		http://purl.obolibrary.org/obo/GO_0042074		
GO:0032609	biolink:NamedThing	interferon-gamma production	The appearance of interferon-gamma due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Interferon-gamma is also known as type II interferon.		mondo.json	type II IFN production|IFNG production|interferon-gamma biosynthetic process|type II interferon production|interferon-gamma secretion	http://purl.obolibrary.org/obo/GO_0032609		
HGNC:32434	biolink:NamedThing	SLC38A8			mondo.json		http://identifiers.org/hgnc/32434		
HGNC:19440	biolink:NamedThing	SBDS			mondo.json		http://identifiers.org/hgnc/19440		
MONDO:0019571	biolink:Disease	autosomal dominant cutis laxa	Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.	MESH:C562627|Orphanet:90348|GARD:0001639|SCTID:111388003|DOID:0070142|UMLS:C0268350	mondo.json	cutis laxa, autosomal dominant|ADCL	http://purl.obolibrary.org/obo/MONDO_0019571	http://identifiers.org/mesh/C562627|DOID:0070142|UMLS:C0268350|Orphanet:90348|http://identifiers.org/snomedct/111388003	gard_rare|ordo_disease
MONDO:0019570	biolink:Disease	Cockayne syndrome type 2	Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6.	OMIM:133540|Orphanet:90324|Orphanet:90321|UMLS:C0751038|GARD:0001420|OMIM:216400|Orphanet:90322|NCIT:C135726	mondo.json	Cockayne syndrome, type B|Cockayne syndrome type 2|Cockayne syndrome type II|Cockayne syndrome B|CSB|Cockayne syndrome type B	http://purl.obolibrary.org/obo/MONDO_0019570	NCIT:C135726|Orphanet:90322|UMLS:C0751038|https://omim.org/entry/133540	ordo_clinical_subtype
NBO:0000455	biolink:NamedThing	attention behavior	"The sustained focus of cognitive resources on information while filtering or ignoring extraneous information.  Intended to encompass only attention to perceptual stimuli. " [wikipedia:Attention]		mondo.json		http://purl.obolibrary.org/obo/NBO_0000455		
MONDO:0007588	biolink:Disease	extrasystoles-short stature-hyperpigmentation-microcephaly syndrome	Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.	MESH:C565032|Orphanet:1964|OMIM:133750|UMLS:C1851412	mondo.json	extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly|Char-Douglas-Dungan syndrome	http://purl.obolibrary.org/obo/MONDO_0007588	https://omim.org/entry/133750|UMLS:C1851412|http://identifiers.org/mesh/C565032|Orphanet:1964	ordo_malformation_syndrome
MONDO:0020566	biolink:Disease	obsolete Klatskin tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020566		
MONDO:0007589	biolink:Disease	exudative vitreoretinopathy 1		UMLS:C1851402|DOID:0111412|UMLS:C0035344|MESH:C536382|OMIM:133780|Orphanet:90050	mondo.json	exudative vitreoretinopathy 1|Fevr, autosomal dominant|retinopathy of prematurity|Criswick-Schepens syndrome|EVR1|exudative vitreoretinopathy type 1|exudative vitreoretinopathy, familial, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007589	DOID:0111412|https://omim.org/entry/133780|UMLS:C1851402|http://identifiers.org/mesh/C536382	
MONDO:0020565	biolink:Disease	obsolete adenocarcinoma of esophagus			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020565		
MONDO:0007586	biolink:Disease	exostoses, multiple, type 2	This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes.	OMIM:133701|NCIT:C18252|UMLS:C1851413|GARD:0002205	mondo.json	exostoses, multiple, type II|EXT2 Gene|exostoses, multiple caused by mutation in EXT2|exostoses (Multiple) 2 Gene|exostoses, multiple, type 2|EXT2 exostoses, multiple|Ext2	http://purl.obolibrary.org/obo/MONDO_0007586	https://omim.org/entry/133701|UMLS:C1851413|NCIT:C18252	gard_rare
MONDO:0020564	biolink:Disease	obsolete well-differentiated liposarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020564		
MONDO:0007587	biolink:Disease	external auditory canal atresia-vertical talus-hypertelorism syndrome		OMIM:133705|Orphanet:3023|UMLS:C2930867|GARD:0004638	mondo.json	Rasmussen-Johnsen-Thomsen syndrome|Rasmussen syndrome|Rasmussen Johnsen Thomsen syndrome|external auditory canal, bilateral atresia of, with congenital vertical talus|inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance	http://purl.obolibrary.org/obo/MONDO_0007587	https://omim.org/entry/133705|Orphanet:3023|UMLS:C2930867	ordo_malformation_syndrome
MONDO:0020563	biolink:Disease	Dedifferentiated liposarcoma	Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS.	ONCOTREE:DDLS|UMLS:C0205824|ICD9:171.9|DOID:0080531|SCTID:404072004|ICDO:8858/3|Orphanet:99970|EFO:0003085|NCIT:C3704	mondo.json	DDLS|Dedifferentiated liposarcoma	http://purl.obolibrary.org/obo/MONDO_0020563	NCIT:C3704|DOID:0080531|Orphanet:99970|http://identifiers.org/snomedct/404072004|UMLS:C0205824	ordo_histopathological_subtype
MONDO:0020562	biolink:Disease	pleomorphic liposarcoma	Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma.	EFO:0003083|Orphanet:99969|ICD9:171.9|NCIT:C3705|UMLS:C0205825|SCTID:404071006|DOID:5702|ONCOTREE:PLLS|ICDO:8854/3	mondo.json	pleomorphic liposarcoma|pleomorphic liposarcoma (morphologic abnormality)|PLLS|PLS	http://purl.obolibrary.org/obo/MONDO_0020562	NCIT:C3705|Orphanet:99969|DOID:5702|http://identifiers.org/snomedct/404071006|UMLS:C0205825	ordo_histopathological_subtype
MONDO:0007584	biolink:Disease	exostoses-anetodermia-brachydactyly type E syndrome	Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.	UMLS:C1851428|OMIM:133690|Orphanet:1962|MESH:C565034	mondo.json	exostoses with anetodermia and brachydactyly, type E	http://purl.obolibrary.org/obo/MONDO_0007584	UMLS:C1851428|http://identifiers.org/mesh/C565034|Orphanet:1962|https://omim.org/entry/133690	ordo_malformation_syndrome
MONDO:0020561	biolink:Disease	myxoid/round cell liposarcoma	Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS.	Orphanet:99967|ONCOTREE:MRLS	mondo.json	MRCLS|myxoid/round-cell liposarcoma	http://purl.obolibrary.org/obo/MONDO_0020561	Orphanet:99967	ordo_histopathological_subtype
MONDO:0007585	biolink:Disease	exostoses, multiple, type 1	Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene.	OMIM:133700|GARD:0002204	mondo.json	multiple osteochondromas|osteochondromatosis|exostoses, multiple, type I|diaphyseal Aclasis|exostoses, multiple caused by mutation in EXT1|EXT|exostoses, multiple, type 1|EXT1 exostoses, multiple|multiple cartilaginous exostoses	http://purl.obolibrary.org/obo/MONDO_0007585	https://omim.org/entry/133700	gard_rare
MONDO:0020560	biolink:Disease	atypical teratoid rhabdoid tumor	Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children.	EFO:1002008|DOID:2129|ONCOTREE:ATRT|Orphanet:99966|OMIM:609322|ICDO:9508/3|UMLS:C1266184|UMLS:CN207484|NCIT:C6906	mondo.json	atypical teratoid/rhabdoid tumor (WHO grade IV)|rhabdoid neoplasm of CNS|malignant rhabdoid neoplasm of the brain|ATRT|primary malignant brain rhabdoid tumor|malignant rhabdoid neoplasm of brain|atypical teratoid/rhabdoid tumor|CNS rhabdoid tumor|rhabdoid tumor of CNS|primary malignant rhabdoid neoplasm of the brain|primary malignant rhabdoid tumor of the brain|primary malignant rhabdoid neoplasm of brain|central nervous system rhabdoid neoplasm|CNS rhabdoid neoplasm|primary malignant rhabdoid tumor of brain|primary malignant brain rhabdoid neoplasm|malignant rhabdoid tumor of the brain|AT/RT|malignant rhabdoid tumor of brain|atypical teratoid/rhabdoid tumor (morphologic abnormality)|ATT/RHT|malignant brain rhabdoid neoplasm|rhabdoid tumor of central nervous system|rhabdoid tumor predisposition syndrome|rhabdoid tumor of the central nervous system|central nervous system rhabdoid tumor|rhabdoid neoplasm of central nervous system|rhabdoid neoplasm of the central nervous system|malignant brain rhabdoid tumor|rhabdoid tumor of the CNS|rhabdoid neoplasm of the CNS	http://purl.obolibrary.org/obo/MONDO_0020560	UMLS:C1266184|Orphanet:99966|UMLS:CN207484|DOID:2129|NCIT:C6906	ordo_clinical_subtype
MONDO:0007582	biolink:Disease	obsolete Cockayne syndrome B			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007582		
MONDO:0007583	biolink:Disease	obsolete exostoses of heel		OMIM:133600|MESH:C563167|UMLS:C0877431	mondo.json	exostoses of heel	http://purl.obolibrary.org/obo/MONDO_0007583	UMLS:C0877431|https://omim.org/entry/133600|http://identifiers.org/mesh/C563167	
MONDO:0007580	biolink:Disease	obsolete esterase ES-2, regulator for		OMIM:133300	mondo.json	esterase ES-2, regulator for	http://purl.obolibrary.org/obo/MONDO_0007580	https://omim.org/entry/133300	
MONDO:0007581	biolink:Disease	exchondrosis of pinna, posterior		OMIM:133500|UMLS:C1851463|MESH:C565036	mondo.json	exchondrosis of pinna, posterior|Ear bump	http://purl.obolibrary.org/obo/MONDO_0007581	UMLS:C1851463|http://identifiers.org/mesh/C565036|https://omim.org/entry/133500	
MONDO:0020559	biolink:Disease	O'Sullivan-McLeod syndrome	O'Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period.	MedDRA:10069682|UMLS:C2721741|Orphanet:99965	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020559	UMLS:C2721741|Orphanet:99965	ordo_clinical_subtype
MONDO:0020558	biolink:Disease	autosomal dominant Charcot-Marie-Tooth disease type 2K	Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.	UMLS:C1842983|NCIT:C133886|GARD:0009199|OMIM:607831|Orphanet:99944|UMLS:CN207468|SCTID:719512003|UMLS:C1842984	mondo.json	Charcot-Marie-Tooth disease type 2K|CMT2K	http://purl.obolibrary.org/obo/MONDO_0020558	http://identifiers.org/snomedct/719512003|Orphanet:99944|NCIT:C133886|UMLS:CN207468|UMLS:C1842984	ordo_disease
MONDO:0020557	biolink:Disease	pleuropulmonary blastoma type 3	A pleuropulmonary blastoma characterized by a solid pattern and sarcomatous features. It usually follows an aggressive clinical course.	ICD9:162.9|Orphanet:99935|SCTID:707673006|NCIT:C45628|UMLS:CN207459	mondo.json	type III pleuropulmonary blastoma	http://purl.obolibrary.org/obo/MONDO_0020557	Orphanet:99935|UMLS:CN207459|NCIT:C45628|http://identifiers.org/snomedct/707673006	ordo_clinical_subtype
MONDO:0020556	biolink:Disease	pleuropulmonary blastoma type 2	A pleuropulmonary blastoma composed of malignant small cells and characterized by the presence of a sarcomatous component. It usually follows an aggressive clinical course.	ICD9:162.9|Orphanet:99934|NCIT:C45627|UMLS:CN207458|SCTID:707672001	mondo.json	type II pleuropulmonary blastoma	http://purl.obolibrary.org/obo/MONDO_0020556	http://identifiers.org/snomedct/707672001|Orphanet:99934|UMLS:CN207458|NCIT:C45627	ordo_clinical_subtype
MONDO:0019577	biolink:Disease	anonychia-onychodystrophy syndrome		MESH:C536378|Orphanet:90390|OMIM:107000|UMLS:C1862840	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019577	Orphanet:90390|UMLS:C1862840|http://identifiers.org/mesh/C536378	ordo_clinical_subtype
HP:0004394	biolink:PhenotypicFeature	Multiple gastric polyps		SNOMEDCT_US:87252009|MSH:C562464|SNOMEDCT_US:78809005|UMLS:C0236048	mondo.json		http://purl.obolibrary.org/obo/HP_0004394		
MONDO:0019576	biolink:Disease	telangiectasia macularis eruptiva perstans		UMLS:C0263402|MedDRA:10043192|Orphanet:90389|SCTID:8214000|ICD9:448.9	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019576	UMLS:C0263402|Orphanet:90389|http://identifiers.org/snomedct/8214000	ordo_clinical_subtype
MONDO:0019579	biolink:Disease	discrete papular lichen myxedematosus	Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk.	Orphanet:90394|SCTID:717258005|UMLS:C4273967	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019579	http://identifiers.org/snomedct/717258005|Orphanet:90394|UMLS:C4273967	ordo_disease
GO:0030099	biolink:NamedThing	myeloid cell differentiation	The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages.		mondo.json		http://purl.obolibrary.org/obo/GO_0030099		
MONDO:0019578	biolink:Disease	nodular lichen myxedematosus	Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption.	Orphanet:90393|SCTID:717257000|UMLS:C4273968	mondo.json	atypical tuberous myxedema of Jadassohn-Dosseker	http://purl.obolibrary.org/obo/MONDO_0019578	Orphanet:90393|http://identifiers.org/snomedct/717257000|UMLS:C4273968	ordo_disease
MONDO:0019573	biolink:Disease	autosomal recessive cutis laxa type 2	A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debre) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS).	Orphanet:90350	mondo.json	cutis laxa with joint laxity and developmental delay|ARCL2	http://purl.obolibrary.org/obo/MONDO_0019573	Orphanet:90350	disease_grouping|ordo_group_of_disorders
GO:0030097	biolink:NamedThing	hemopoiesis	The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates.		mondo.json	blood cell formation|hematopoiesis|blood cell biosynthesis|haemopoiesis	http://purl.obolibrary.org/obo/GO_0030097		
GO:0030098	biolink:NamedThing	lymphocyte differentiation	The process in which a relatively unspecialized precursor cell acquires specialized features of a lymphocyte. A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin.		mondo.json	lymphocytic blood cell differentiation|lymphocyte cell differentiation|lymphocyte development	http://purl.obolibrary.org/obo/GO_0030098		
MONDO:0019572	biolink:Disease	autosomal recessive cutis laxa type 1	Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).	Orphanet:90349|SCTID:254222002|UMLS:CN206407|PMID:19401719|GARD:8480|GARD:0008480|DOID:0070144|MESH:C536225	mondo.json	autosomal recessive cutis laxa type I|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, type 1|cutis laxa, autosomal recessive type 1|autosomal recessive cutis laxa type 1|autosomal recessive cutis laxa, pulmonary emphysema type|ARCL1	http://purl.obolibrary.org/obo/MONDO_0019572	DOID:0070144|http://identifiers.org/snomedct/254222002|Orphanet:90349|http://identifiers.org/mesh/C536225|UMLS:CN206407	ordo_disease
MONDO:0019575	biolink:Disease	hypotrichosis simplex of the scalp	Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp.	Orphanet:90368|SCTID:717256009	mondo.json	hereditary hypotrichosis simplex of the scalp	http://purl.obolibrary.org/obo/MONDO_0019575	Orphanet:90368|http://identifiers.org/snomedct/717256009	ordo_disease
MONDO:0019574	biolink:Disease	secondary intestinal lymphangiectasia	Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as CrohnBs disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions.	UMLS:C4273969|SCTID:717255008|Orphanet:90363	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019574	Orphanet:90363|UMLS:C4273969|http://identifiers.org/snomedct/717255008	ordo_disease
MONDO:0019560	biolink:Disease	lupus erythematosus tumidus	Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus. Tumid erythematosus lupus is characterized by smooth, non-scarring, pink- to violet-colored pimples (papules)on the skin without any other apparent skin changes, such as scarring. Patients with tumid lupus erythematosus usually do not have other symptoms of systemic lupus erythematosus or other types of cutaneous lupus erythematosus. The papules appear on sun-exposed areas of the face, upper back, V area of the neck, trunk, and arms, and more rarely on thighs and legs. They usually affect equally both sides of the body, but may affect only one side. Normally, the papules clear without leaving scars. The treatment is very effective in most cases, and may include sun protection, anti-malarials drugs, local corticosteroids, topical tacrolimus and light therapy.	UMLS:C0406636|SCTID:200941006|NCIT:C117112|GARD:0013003|Orphanet:90283	mondo.json	let|tumid lupus erythematosus|intermittent cutaneous lupus	http://purl.obolibrary.org/obo/MONDO_0019560	http://identifiers.org/snomedct/200941006|NCIT:C117112|Orphanet:90283|UMLS:C0406636	ordo_disease|gard_rare
HGNC:20444	biolink:NamedThing	MBD5			mondo.json		http://identifiers.org/hgnc/20444		
FOODON:03460111	biolink:NamedThing	food treatment process	Used to specifically characterize a food product based on the treatment or processes applied to the product or any indexed ingredient. The processes include adding, substituting or removing components or modifying the food or component, e.g., through fermentation.	http://www.langual.org/langual_thesaurus.asp?termid=H0111	mondo.json		http://purl.obolibrary.org/obo/FOODON_03460111		
MONDO:0007599	biolink:Disease	factor 9 and Factor XI, combined deficiency of		MESH:C565022|UMLS:C1851374|OMIM:134540	mondo.json	factor IX and factor XI, combined deficiency OF|familial multiple coagulation Factor deficiency 6|multiple coagulation Factor deficiency 6	http://purl.obolibrary.org/obo/MONDO_0007599	UMLS:C1851374|http://identifiers.org/mesh/C565022|https://omim.org/entry/134540	
MONDO:0020555	biolink:Disease	pleuropulmonary blastoma type 1	A pleuropulmonary blastoma composed of malignant small cells. Sarcomatous features are absent.	SCTID:707671008|ICD9:162.9|Orphanet:99933|NCIT:C45626|UMLS:CN207457	mondo.json	type I pleuropulmonary blastoma	http://purl.obolibrary.org/obo/MONDO_0020555	http://identifiers.org/snomedct/707671008|Orphanet:99933|UMLS:CN207457|NCIT:C45626	ordo_clinical_subtype
MONDO:0020554	biolink:Disease	Heiner syndrome	Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis, digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet.	SCTID:707441009|ICD9:518.89|ICD10EXP:E83.1+|ICD10EXP:J99.8*|Orphanet:99932|UMLS:CN207456	mondo.json	cow's milk hypersensitivity	http://purl.obolibrary.org/obo/MONDO_0020554	http://identifiers.org/snomedct/707441009|Orphanet:99932|UMLS:CN207456	ordo_clinical_subtype
MONDO:0007597	biolink:Disease	factor VIII and Factor IX, combined deficiency of		UMLS:C1851376|OMIM:134510|MESH:C565024	mondo.json	F8F9D|factor 8 and Factor IX, combined deficiency of|factor VIII and factor IX, combined deficiency OF|factor VIII and Factor IX, combined deficiency of|familial multiple coagulation Factor deficiency 2	http://purl.obolibrary.org/obo/MONDO_0007597	UMLS:C1851376|http://identifiers.org/mesh/C565024|https://omim.org/entry/134510	
MONDO:0020553	biolink:Disease	secondary pulmonary hemosiderosis	Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome, autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography	SCTID:716712004|ICD10EXP:E83.1+|UMLS:C4274326|Orphanet:99930|ICD10EXP:J99.8*	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020553	UMLS:C4274326|Orphanet:99930|http://identifiers.org/snomedct/716712004	ordo_disease
MONDO:0020552	biolink:Disease	placental site trophoblastic tumor	Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage.	SCTID:237252008|ICDO:9104/1|Orphanet:99928|DOID:3596|MESH:D018245|UMLS:C0206666|EFO:1001111|ONCOTREE:PSTT|NCIT:C3757	mondo.json	placental-site GTT|placental site gestational trophoblastic tumor|placental-site gestational trophoblastic neoplasm|placental site trophoblastic tumor (morphologic abnormality)|placental site trophoblastic tumor|placental-site gestational trophoblastic tumor|PSST	http://purl.obolibrary.org/obo/MONDO_0020552	NCIT:C3757|Orphanet:99928|UMLS:C0206666|http://identifiers.org/snomedct/237252008|DOID:3596|http://identifiers.org/mesh/D018245	ordo_disease
MONDO:0007598	biolink:Disease	factors VIII, IX and XI, combined deficiency of		UMLS:C1851375|OMIM:134520|MESH:C565023	mondo.json	factors VIII, IX and XI, combined deficiency of|familial multiple coagulation Factor deficiency 5|factors VIII, 9 and Xi, combined deficiency of|multiple coagulation Factor deficiency 5	http://purl.obolibrary.org/obo/MONDO_0007598	UMLS:C1851375|http://identifiers.org/mesh/C565023|https://omim.org/entry/134520	
MONDO:0020551	biolink:Disease	obsolete hydatidiform mole			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020551		
MONDO:0007595	biolink:Disease	factor VII and Factor VIII, combined deficiency of		UMLS:C1851377|OMIM:134430|MESH:C565025	mondo.json	factor VII and Factor VIII, combined deficiency of|familial multiple coagulation Factor deficiency 4|multiple coagulation Factor deficiency 4|factor 7 and Factor VIII, combined deficiency of	http://purl.obolibrary.org/obo/MONDO_0007595	UMLS:C1851377|http://identifiers.org/mesh/C565025|https://omim.org/entry/134430	
MONDO:0020550	biolink:Disease	gestational choriocarcinoma	Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole.	Orphanet:99926|SCTID:417570003|ICD9:181|UMLS:C0349557|DOID:2025|NCIT:C4646	mondo.json	gestational choriocarcinoma|gestational choriocarcinoma (morphologic abnormality)|gestational chorionepithelioma|molar pregnancy with choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0020550	NCIT:C4646|http://identifiers.org/snomedct/417570003|Orphanet:99926|DOID:2025|UMLS:C0349557	ordo_disease
MONDO:0007596	biolink:Disease	obsolete factor VIII deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007596		
MONDO:0007593	biolink:Disease	facial spasm		OMIM:134300	mondo.json	facial spasm	http://purl.obolibrary.org/obo/MONDO_0007593	https://omim.org/entry/134300	
MONDO:0007594	biolink:Disease	factor 5 excess with spontaneous thrombosis		UMLS:C1851378|OMIM:134400|MESH:C565026	mondo.json	thrombophilia with elevated Factor 5|factor V excess with spontaneous thrombosis|Proaccelerin Excess	http://purl.obolibrary.org/obo/MONDO_0007594	UMLS:C1851378|http://identifiers.org/mesh/C565026|https://omim.org/entry/134400	
MONDO:0007591	biolink:Disease	obsolete facial hypertrichosis		MESH:C565029|OMIM:134000|HP:0002219	mondo.json	facial hypertrichosis|facial hypertrichosis (disease)	http://purl.obolibrary.org/obo/MONDO_0007591	https://omim.org/entry/134000|http://identifiers.org/mesh/C565029	
MONDO:0007592	biolink:Disease	familial recurrent peripheral facial palsy		ICD10CM:G51.0|UMLS:C1851399|Orphanet:2809|OMIM:134200|MESH:C565028	mondo.json	familial recurrent Bell palsy|facial palsy, familial recurrent peripheral	http://purl.obolibrary.org/obo/MONDO_0007592	UMLS:C1851399|http://identifiers.org/mesh/C565028|Orphanet:2809|https://omim.org/entry/134200	ordo_disease
MONDO:0020549	biolink:Disease	invasive hydatidiform mole	A complete hydatidiform mole or very rarely a partial mole that invades the myometrium.	ICDO:9100/1|ONCOTREE:IHM|MESH:D002820|NCIT:C6985|Orphanet:99925|SCTID:416669000|UMLS:C0008493	mondo.json	invasive hydatidiform mole|invasive hydatidiform Mole|chorioadenoma Destruens|chorioadenoma destruens|chorioadenoma|IHM|invasive Mole|invasive gestational trophoblastic neoplasm	http://purl.obolibrary.org/obo/MONDO_0020549	NCIT:C6985|http://identifiers.org/snomedct/416669000|http://identifiers.org/mesh/D002820|Orphanet:99925|UMLS:C0008493	ordo_disease
MONDO:0007590	biolink:Disease	hemifacial hypertrophy	Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.	UMLS:C1399354|Orphanet:141145|OMIM:133900	mondo.json	facial asymmetry|hemifacial hyperplasia|hemifacial hypertrophy|facial hemihypertrophy	http://purl.obolibrary.org/obo/MONDO_0007590	Orphanet:141145|UMLS:C1399354|https://omim.org/entry/133900	ordo_malformation_syndrome
MONDO:0020548	biolink:Disease	ocular pemphigoid	Ocular pemphigoid is a rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease.	ICD10EXP:H13.3*|MedDRA:10067776|Orphanet:99922|SCTID:34250006|ICD10EXP:L12+	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020548	http://identifiers.org/snomedct/34250006|Orphanet:99922	ordo_disease
MONDO:0019569	biolink:Disease	Cockayne syndrome type 1	Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8.	UMLS:C0751039|OMIM:133540|Orphanet:90321|NCIT:C135725|OMIM:216400|Orphanet:90324|Orphanet:90322|GARD:0001415	mondo.json	Cockayne syndrome classical|Cockayne syndrome type a|Cockayne syndrome type 1|Cockayne syndrome, type A|Cockayne syndrome classic form|Cockayne syndrome A|CSA|ERCC8 Cockayne syndrome|Cockayne syndrome type I|Cockayne syndrome type A|Cockayne syndrome caused by mutation in ERCC8	http://purl.obolibrary.org/obo/MONDO_0019569	UMLS:C0751039|https://omim.org/entry/216400|NCIT:C135725|Orphanet:90321	ordo_clinical_subtype
MONDO:0020547	biolink:Disease	chronic graft versus host disease	Chronic graft versus host disease (GVHD) is a complication that can occur after a stem cell or bone marrow transplant in which the newly transplanted donor cells attack the transplant recipient's body. Symptoms may include skin rash, mouth sores, dry eyes, liver inflammation, development of scar tissue in the skin and joints, and damage to the lungs. The exact cause of chronic GVHD is unknown.It likely results from a complex immune-mediated interaction between the donor and recipient cells.Chronic GVHD is treated with prednisone or other similar anti-inflammatory or immunosuppressive medications.	MedDRA:10066261|SCTID:402356004|ICD9:279.52|UMLS:C0867389|GARD:0010964|ICD10CM:D89.811|NCIT:C4981|Orphanet:99921	mondo.json	chronic GVHD|GVHD, chronic|graft versus host disease, chronic	http://purl.obolibrary.org/obo/MONDO_0020547	http://purl.bioontology.org/ontology/ICD10CM/D89.811|NCIT:C4981|Orphanet:99921|http://identifiers.org/snomedct/402356004|UMLS:C0867389	gard_rare|ordo_clinical_subtype
MONDO:0020546	biolink:Disease	acute graft versus host disease	A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation.	GARD:0006544|MedDRA:10066260|ICD9:279.51|SCTID:402355000|ICD10CM:D89.810|NCIT:C4980|EFO:0004599|Orphanet:99920|UMLS:C0856825	mondo.json	fulminant graft versus host disease|acute GVHD|acute graft vs. host disease|GVHD, acute|graft versus host disease, acute	http://purl.obolibrary.org/obo/MONDO_0020546	http://purl.bioontology.org/ontology/ICD10CM/D89.810|NCIT:C4980|Orphanet:99920|UMLS:C0856825|http://identifiers.org/snomedct/402355000	ordo_clinical_subtype|gard_rare
MONDO:0020545	biolink:Disease	staphylococcal toxic-shock syndrome	Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection.	MedDRA:10044250|Orphanet:99919|ICD9:040.89|SCTID:240450004	mondo.json	Staphylococcus caused toxic shock syndrome|Staphylococcus toxic shock syndrome|staphylococcal TSS	http://purl.obolibrary.org/obo/MONDO_0020545	http://identifiers.org/snomedct/240450004|Orphanet:99919	ordo_etiological_subtype
MONDO:0032566	biolink:Disease	squalene synthase deficiency		OMIM:618156	mondo.json	neurodevelopmental disorder with low cholesterol and abnormal urine organic acids|SQSD|SQUALENE SYNTHASE DEFICIENCY	http://purl.obolibrary.org/obo/MONDO_0032566	https://omim.org/entry/618156	
MONDO:0019566	biolink:Disease	obsolete Klippel-Trenaunay syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019566		
MONDO:0019565	biolink:Disease	hereditary von Willebrand disease	Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N).	GARD:0007867|DOID:12531|MedDRA:10047715|MESH:C531844|Orphanet:903|UMLS:C0042974|SCTID:234446004|ICD9:286.4	mondo.json	hereditary von Willebrand disease (hereditary or acquired)|von Willebrand disorder|von Willebrand-Jrgens disease|vascular hemophilia|von Willebrand's disease|von Willebrand's-Jurgens' disease|congenital von willebrand's disease|hereditary von Willebrand disease|congenital von willebrand disease|von Willebrand-Jurgens disease|vascular pseudohemophilia|von Willebrand disease	http://purl.obolibrary.org/obo/MONDO_0019565	Orphanet:903|UMLS:C0042974|DOID:12531|http://identifiers.org/mesh/C531844|http://identifiers.org/snomedct/234446004	ordo_disease
MONDO:0032567	biolink:Disease	isolated growth hormone deficiency, type 4		OMIM:618157	mondo.json	Isolated Growth Hormone Deficiency, Type Ib, Formerly|Isolated Growth Hormone Deficiency, Type Ib|Dwarfism of Sindh|IGHD4|growth hormone deficiency, isolated, type IV|ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV	http://purl.obolibrary.org/obo/MONDO_0032567	https://omim.org/entry/618157	
MONDO:0019568	biolink:Disease	Ehlers-Danlos syndrome, classic type, 2	Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene.	Orphanet:90318|UMLS:C0268336|MESH:C536195|NCIT:C125697|OMIM:130010	mondo.json	Ehlers Danlos syndrome, mitis type|EDS II|Ehlers-Danlos syndrome, classic type, 2|Ehlers Danlos syndrome, mild Classic type, formerly|EDSCL2|Ehlers-Danlos syndrome, type Ii, formerly|Ehlers Danlos syndrome, mild Classic type|Ehlers-Danlos syndrome, type Ii|EDS II, formerly|Ehlers Danlos syndrome, mitis type, formerly	http://purl.obolibrary.org/obo/MONDO_0019568	https://omim.org/entry/130010|NCIT:C125697|UMLS:C0268336|http://identifiers.org/mesh/C536195	ordo_etiological_subtype
MONDO:0032564	biolink:Disease	hennekam lymphangiectasia-lymphedema syndrome 3		OMIM:618154	mondo.json	HKLLS3|HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3	http://purl.obolibrary.org/obo/MONDO_0032564	https://omim.org/entry/618154	
HGNC:20439	biolink:NamedThing	UPF3B			mondo.json		http://identifiers.org/hgnc/20439		
MONDO:0019567	biolink:Disease	Ehlers-Danlos syndrome, classic type, 1	Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene.	MESH:C536194|UMLS:C0268335|Orphanet:90309|SCTID:83470009|OMIM:130000|DOID:14720|NCIT:C125696	mondo.json	EDS I|EDSCL1|Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome, type 1|Ehlers-Danlos syndrome, type I|type I Ehlers-Danlos syndrome	http://purl.obolibrary.org/obo/MONDO_0019567	http://identifiers.org/snomedct/83470009|DOID:14720|https://omim.org/entry/130000|NCIT:C125696|UMLS:C0268335|http://identifiers.org/mesh/C536194	ordo_etiological_subtype
MONDO:0032565	biolink:Disease	ophthalmoplegia, external, with rib and vertebral anomalies		OMIM:618155	mondo.json	EORVA|OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES	http://purl.obolibrary.org/obo/MONDO_0032565	https://omim.org/entry/618155	
MONDO:0019562	biolink:Disease	localized scleroderma	Localized scleroderma is the skin localized form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques or strips.	UMLS:C0036420|MESH:D012594|GARD:0007058|DOID:8472|NCIT:C72069|Orphanet:90289|SCTID:201048007|MedDRA:10039712|ICD9:701.0	mondo.json	Scleroderma, circumscribed or localized|morphea|localized scleroderma (disorder) [ambiguous]|circumscribed scleroderma|Scleroderma, localized|localised morphoea|localized morphea|localized scleroderma|localized fibrosing scleroderma	http://purl.obolibrary.org/obo/MONDO_0019562	NCIT:C72069|DOID:8472|Orphanet:90289|http://identifiers.org/snomedct/201048007|http://identifiers.org/mesh/D012594|UMLS:C0036420	ordo_disease
MONDO:0019561	biolink:Disease	lupus erythematosus panniculitis	A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45.	NCIT:C82884|MESH:D015435|SCTID:15084002|Orphanet:90285|UMLS:C0030327	mondo.json	lupus profundus|lupus panniculitis|lupus erythematosus profundus	http://purl.obolibrary.org/obo/MONDO_0019561	http://identifiers.org/snomedct/15084002|http://identifiers.org/mesh/D015435|Orphanet:90285|NCIT:C82884|UMLS:C0030327	ordo_disease
MONDO:0019564	biolink:Disease	obsolete systemic sclerosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019564		
MONDO:0019563	biolink:Disease	CREST syndrome	CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia.	GARD:0012430|NCIT:C70646|SCTID:31848007|MedDRA:10011380|Orphanet:90290|MESH:D017675|DOID:0060218|OMIM:181750|UMLS:C0206138	mondo.json	lcSSc|calcinosis - Raynaud phenomenon - esophageal involvement - sclerodactyly - telangiectasia|limited cutaneous Systemic sclerosis|syndrome, CREST|phenomenon-sclerodactyly-telangiectasia, calcinosis-Raynaud|calcinosis, Raynaud's phenomenon, esophageal dismobility, sclerodactyly, telangiectasia syndrome|calcinosis Raynaud phenomenon sclerodactyly telangiectasia|calcinosis-Raynaud phenomenon-sclerodactyly-telangiectasia|CRST syndromes|limited cutaneous Systemic Scleroderma|CRST syndrome|calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome	http://purl.obolibrary.org/obo/MONDO_0019563	DOID:0060218|http://identifiers.org/snomedct/31848007|http://identifiers.org/mesh/D017675|NCIT:C70646|Orphanet:90290|UMLS:C0206138	ordo_clinical_subtype
MONDO:0007568	biolink:Disease	aortic aneurysm, familial thoracic 4	Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene.	OMIM:132900|MESH:C537784|GARD:0009876|UMLS:C1851504	mondo.json	familial thoracic aortic aneurysm and aortic dissection caused by mutation in MYH11|aortic aneurysm, familial thoracic 4|aortic aneurysm, familial thoracic type 4|aortic aneurysm/aortic dissection and patent ductus arteriosus|FAA4|MYH11 familial thoracic aortic aneurysm and aortic dissection|AAT4	http://purl.obolibrary.org/obo/MONDO_0007568	http://identifiers.org/mesh/C537784|https://omim.org/entry/132900|UMLS:C1851504	gard_rare
MONDO:0032568	biolink:Disease	intellectual developmental disorder with macrocephaly, seizures, and speech delay		OMIM:618158	mondo.json	IDDMSSD|INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY	http://purl.obolibrary.org/obo/MONDO_0032568	https://omim.org/entry/618158	
MONDO:0007569	biolink:Disease	erythema nodosum, familial		OMIM:132990|MESH:C535510|UMLS:C1851503|GARD:0009259	mondo.json	familial erythema nodosum|erythema nodosum, familial	http://purl.obolibrary.org/obo/MONDO_0007569	http://identifiers.org/mesh/C535510|https://omim.org/entry/132990|UMLS:C1851503	gard_rare
NBO:0000433	biolink:NamedThing	withdrawal reflex	"A reflex where the body reacts to pain or unpleasant stimuli by trying to move itself away from the source." [NBO:GVG]		mondo.json	flexor withdrawal reflex|nociceptive reflex	http://purl.obolibrary.org/obo/NBO_0000433		
MONDO:0032569	biolink:Disease	isolated growth hormone deficiency, type 5		OMIM:618160	mondo.json	IGHD5|ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V|pituitary hormone deficiency, combined or isolated, 7	http://purl.obolibrary.org/obo/MONDO_0032569	https://omim.org/entry/618160	
MONDO:0007566	biolink:Disease	multiple self-healing squamous epithelioma	Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.	SCTID:254659009|GARD:0003090|NCIT:C4461|OMIM:132800|DOID:5585|MESH:C536150|Orphanet:65748|UMLS:C0345982	mondo.json	ESS1|Ferguson-Smith-type epithelioma|Ferguson-Smith tumor|MSSE|self-healing squamous epithelioma type 1|multiple self-healing squamous epithelioma, susceptibility to|multiple self healing squamous epithelioma|familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type|ESS1 (formerly)|multiple self-healing epithelioma of Ferguson-Smith|multiple keratoacanthoma, Ferguson-Smith type|ESS1, formerly|Ferguson-Smith disease|multiple self healing epithelioma of Ferguson-Smith|multiple self-healing squamous epithelioma|Ferguson-Smith type epithelioma	http://purl.obolibrary.org/obo/MONDO_0007566	DOID:5585|http://identifiers.org/mesh/C536150|http://identifiers.org/snomedct/254659009|https://omim.org/entry/132800|Orphanet:65748|NCIT:C4461|UMLS:C0345982	ordo_disease|gard_rare
MONDO:0020544	biolink:Disease	streptococcal toxic-shock syndrome	Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection.	Orphanet:99918|UMLS:C0343532|SCTID:240451000|MedDRA:10044251	mondo.json	Streptococcus toxic shock syndrome|streptococcal TSS|Streptococcus caused toxic shock syndrome	http://purl.obolibrary.org/obo/MONDO_0020544	http://identifiers.org/snomedct/240451000|Orphanet:99918|UMLS:C0343532	ordo_etiological_subtype
MONDO:0007567	biolink:Disease	obsolete Epstein-Barr virus insertion site 1		OMIM:132850	mondo.json	Epstein-Barr VIRUS insertion site 1|Epstein-Barr virus insertion site 1|Epstein-Barr Virus integration site|Epstein-Barr Virus insertion site type 1|EBVS1	http://purl.obolibrary.org/obo/MONDO_0007567	https://omim.org/entry/132850	
MONDO:0020543	biolink:Disease	theca steroid-producing cell malignant tumor of ovary, not further specified	Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome.	Orphanet:99917|UMLS:CN207444	mondo.json	theca (steroid-producing) cell cancer, not further specified	http://purl.obolibrary.org/obo/MONDO_0020543	Orphanet:99917|UMLS:CN207444	ordo_disease
MONDO:0020542	biolink:Disease	malignant Sertoli-Leydig cell tumor of ovary	Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional.	UMLS:CN207443|ICD9:239.5|UMLS:C0342515|UMLS:C0036769|SCTID:237795006|UMLS:C0003810|Orphanet:99916|UMLS:C0206723	mondo.json	malignant ovarian Sertoli-Leydig cell tumor|Androblastoma|malignant ovarian sertoli-Leydig cell tumor|virilizing ovarian tumor|malignant Sertoli-Leydig cell tumor of the ovary|Arrhenoblastoma|ovarian sertoli-Leydig cell tumor, malignant|ovarian Sertoli-Leydig cell tumor, malignant|ovarian malignant Sertoli-Leydig cell tumor|ovarian Sertoli-Leydig cell cancer	http://purl.obolibrary.org/obo/MONDO_0020542	http://identifiers.org/snomedct/237795006|Orphanet:99916|UMLS:C0342515|UMLS:CN207443	ordo_disease
MONDO:0007564	biolink:Disease	pilomatrixoma	Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome.	NCIT:C7368|EFO:0009082|UMLS:C0853031|DOID:5374|ICDO:8110/0|MedDRA:10035040|Orphanet:91414|SCTID:274901004|MESH:D018296|OMIM:132600|GARD:0009452|UMLS:C0206711	mondo.json	calcifying Epitherlioma of Malherbe|PTR|calcifying epithelioma of Malherbe|pilomatrixoma, benign|pilomatrixoma|benign pilomatrixoma|pilomatricoma, somatic|pilomatricoma|epithelioma calcificans of Malherbe|benign hair follicle neoplasm|benign pilomatricoma	http://purl.obolibrary.org/obo/MONDO_0007564	UMLS:C0206711|UMLS:C0853031|NCIT:C7368|http://identifiers.org/mesh/D018296|https://omim.org/entry/132600|http://identifiers.org/snomedct/274901004|Orphanet:91414|DOID:5374	gard_rare|ordo_malformation_syndrome
MONDO:0020541	biolink:Disease	maligant granulosa cell tumor of ovary	An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites.	UMLS:CN207442|GARD:0008642|Orphanet:99915|UMLS:C0346175|NCIT:C8403|SCTID:254861002	mondo.json	cancer of granulosa cell|granulosa theca cell tumor of the ovary|granulosa theca cell tumor|ovarian granulosa cell tumor of adults|GTCT|malignant granulosa cell neoplasm of the ovary|GCT of the ovary|malignant ovarian granulosa cell tumor|malignant granulosa cell neoplasm of ovary|malignant granulosa cell tumor of the ovary|adult granulosa cell tumor of the ovary|malignant granulosa cell tumor of ovary|adult ovarian granulosa cell tumor|granulosa cell cancer|malignant granulosa cell neoplasm|Maligant granulosa cell tumor of the ovary|malignant ovarian granulosa cell neoplasm|granulosa cell malignant tumor	http://purl.obolibrary.org/obo/MONDO_0020541	UMLS:C0346175|Orphanet:99915|NCIT:C8403|UMLS:CN207442|http://identifiers.org/snomedct/254861002	gard_rare|ordo_disease
MONDO:0007565	biolink:Disease	familial cylindromatosis		MESH:C536611|OMIM:132700|Orphanet:211|NCIT:C43352|GARD:0009707	mondo.json	Ancell-Spiegler Cylindromas|'turban tumor' syndrome|turban tumors|CYLD|cylindromatosis, familial|turban tumor syndrome|turban tumor|Cylindromas, dermal eccrine|Ancell-Spiegler syndrome	http://purl.obolibrary.org/obo/MONDO_0007565	http://identifiers.org/mesh/C536611|https://omim.org/entry/132700|NCIT:C43352|Orphanet:211	ordo_clinical_subtype
MONDO:0007562	biolink:Disease	multiple epiphyseal dysplasia, Beighton type	Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.	MESH:C565046|DOID:0111348|SCTID:719689005|OMIM:132450|Orphanet:166011|ICD10CM:Q77.3	mondo.json	EDMMD|multiple epiphyseal dysplasia-myopia-deafness syndrome|epiphyseal dysplasia, multiple, with myopia and conductive deafness|epiphyseal dysplasia, multiple, with myopia and deafness	http://purl.obolibrary.org/obo/MONDO_0007562	DOID:0111348|https://omim.org/entry/132450|http://identifiers.org/snomedct/719689005|Orphanet:166011|http://identifiers.org/mesh/C565046	ordo_disease
MONDO:0020540	biolink:Disease	ovarian gynandroblastoma	A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both.	GARD:0009665|ICDO:8632/1|EFO:1000422|Orphanet:99914|UMLS:C0346178|MESH:C538459|UMLS:C0018413|NCIT:C3072|SCTID:254867003	mondo.json	Gynandroblastoma of the ovary|Gynandroblastoma of ovary|Gynandroblastoma	http://purl.obolibrary.org/obo/MONDO_0020540	NCIT:C3072|http://identifiers.org/snomedct/254867003|UMLS:C0346178|http://identifiers.org/mesh/C538459|Orphanet:99914|UMLS:C0018413	gard_rare|ordo_disease
MONDO:0007563	biolink:Disease	obsolete epistaxis, hereditary			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007563		
MONDO:0007560	biolink:Disease	reading seizures		UMLS:C0278193|Orphanet:166433|OMIM:132300	mondo.json	epilepsy, reading	http://purl.obolibrary.org/obo/MONDO_0007560	https://omim.org/entry/132300|Orphanet:166433|UMLS:C0278193	ordo_disease
MONDO:0007561	biolink:Disease	multiple epiphyseal dysplasia type 1	Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.	OMIM:132400|Orphanet:93308|UMLS:C1838280|SCTID:715673002|ICD10CM:Q77.3|DOID:0070303|GARD:0002180|UMLS:C4275061	mondo.json	multiple epiphyseal dysplasia (disease) caused by mutation in COMP|Polyepiphyseal dysplasia type 1|multiple epiphyseal dysplasia COMP-related|MED1|EDM1|multiple epiphyseal dysplasia 1|epiphyseal dysplasia, ribbing type|COMP multiple epiphyseal dysplasia (disease)|multiple epiphyseal dysplasia, Comp-related|epiphyseal dysplasia, Fairbank type|epiphyseal dysplasia multiple 1|epiphyseal dysplasia, multiple, type 1|epiphyseal dysplasia, multiple, 1	http://purl.obolibrary.org/obo/MONDO_0007561	UMLS:C1838280|https://omim.org/entry/132400|http://identifiers.org/snomedct/715673002|UMLS:C4275061|Orphanet:93308|DOID:0070303	ordo_disease|gard_rare
MONDO:0032570	biolink:Disease	Joubert syndrome 35		OMIM:618161	mondo.json	JOUBERT SYNDROME 35|JBTS35	http://purl.obolibrary.org/obo/MONDO_0032570	https://omim.org/entry/618161	
GO:0030072	biolink:NamedThing	peptide hormone secretion	The regulated release of a peptide hormone from a cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0030072		
HP:0004378	biolink:PhenotypicFeature	Abnormality of the anus	Abnormality of the anal canal.	UMLS:C4025329	mondo.json	Abnormality of the anus	http://purl.obolibrary.org/obo/HP_0004378		
MONDO:0020539	biolink:Disease	extragonadal non-dysgerminomatous germ cell tumor		UMLS:CN207440|Orphanet:99913	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020539	UMLS:CN207440|Orphanet:99913	ordo_group_of_disorders|disease_grouping
MONDO:0020538	biolink:Disease	malignant dysgerminomatous germ cell tumor of ovary	Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality.	Orphanet:99912|UMLS:CN207439	mondo.json	dysgerminomatous germ cell cancer of the ovary|dysgerminomatous germ cell cancer of ovary|malignant dysgerminomatous germ cell tumor of the ovary|malignant ovarian dysgerminoma	http://purl.obolibrary.org/obo/MONDO_0020538	UMLS:CN207439|Orphanet:99912	ordo_disease
HP:0004377	biolink:PhenotypicFeature	Hematological neoplasm	Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue).	SNOMEDCT_US:129154003|SNOMEDCT_US:269475001|UMLS:C0376545|MSH:D019337	mondo.json	Blood tumour|Haematological neoplasm|Blood tumor	http://purl.obolibrary.org/obo/HP_0004377		
MONDO:0020537	biolink:Disease	occupational allergic alveolitis	Occupational allergic alveolitis designates a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise	Orphanet:99909	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020537	Orphanet:99909	ordo_group_of_disorders|disease_grouping
MONDO:0019559	biolink:Disease	hypertrophic or verrucous lupus erythematosus		UMLS:CN227653|Orphanet:90282	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019559	UMLS:CN227653|Orphanet:90282	ordo_disease
MONDO:0019558	biolink:Disease	discoid lupus erythematosus	A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE).	MESH:D008179|ICD10CM:L93.0|Orphanet:90281|UMLS:C0024138|MedDRA:10013072|SCTID:200938002|NCIT:C26820	mondo.json	DLE	http://purl.obolibrary.org/obo/MONDO_0019558	http://identifiers.org/mesh/D008179|UMLS:C0024138|http://identifiers.org/snomedct/200938002|NCIT:C26820|http://purl.bioontology.org/ontology/ICD10CM/L93.0|Orphanet:90281	ordo_disease
MONDO:0020536	biolink:Disease	obsolete pigeon-breeder lung disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020536		
MONDO:0020535	biolink:Disease	house allergic alveolitis	House allergic alveolitis is a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis.	SCTID:725415009|Orphanet:99907|UMLS:C4511048	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020535	UMLS:C4511048|http://identifiers.org/snomedct/725415009|Orphanet:99907	ordo_disease
MONDO:0020534	biolink:Disease	obsolete farmer's lung			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020534		
MONDO:0032577	biolink:Disease	retinitis pigmentosa 83		OMIM:618173	mondo.json	RETINITIS PIGMENTOSA 83|RP83	http://purl.obolibrary.org/obo/MONDO_0032577	https://omim.org/entry/618173	
HP:0004372	biolink:PhenotypicFeature	Reduced consciousness/confusion		UMLS:C0234428|SNOMEDCT_US:3006004	mondo.json	Lowered consciousness|Reduced consciousness/confusion|Disturbances of consciousness	http://purl.obolibrary.org/obo/HP_0004372		
MONDO:0019555	biolink:Disease	panniculitis and localized lipodystrophy		UMLS:CN227651|Orphanet:90159	mondo.json	panniculitis-induced localized lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0019555	UMLS:CN227651|Orphanet:90159	ordo_disease
MONDO:0032578	biolink:Disease	cortical dysplasia, complex, with other brain malformations 9		OMIM:618174	mondo.json	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9|CDCBM9	http://purl.obolibrary.org/obo/MONDO_0032578	https://omim.org/entry/618174	
MONDO:0019554	biolink:Disease	idiopathic localized lipodystrophy	Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc).	UMLS:CN227650|Orphanet:90158	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019554	Orphanet:90158|UMLS:CN227650	ordo_disease
HP:0004370	biolink:PhenotypicFeature	Abnormality of temperature regulation	An abnormality of temperature homeostasis.	MSH:D001832|UMLS:C0005904|UMLS:C1832160	mondo.json	Abnormality of temperature regulation|Body temperature changes|Poor temperature regulation	http://purl.obolibrary.org/obo/HP_0004370		
MONDO:0019557	biolink:Disease	chilblain lupus	A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative.	UMLS:CN239336|DOID:0060386|Orphanet:90280|MedDRA:10025141|UMLS:C0024145	mondo.json	CHLE|Hutchinson lupus	http://purl.obolibrary.org/obo/MONDO_0019557	UMLS:C0024145|DOID:0060386|UMLS:CN239336|Orphanet:90280	ordo_disease
MONDO:0032575	biolink:Disease	diarrhea 9		OMIM:618168	mondo.json	DIARRHEA 9|DIAR9	http://purl.obolibrary.org/obo/MONDO_0032575	https://omim.org/entry/618168	
HGNC:20406	biolink:NamedThing	KRT6C			mondo.json		http://identifiers.org/hgnc/20406		
MONDO:0019556	biolink:Disease	pressure-induced localized lipoatrophy	Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present.	SCTID:238898001|UMLS:CN227652|Orphanet:90160	mondo.json	lipoatrophia semicircularis|semicircular lipoatrophy	http://purl.obolibrary.org/obo/MONDO_0019556	http://identifiers.org/snomedct/238898001|UMLS:CN227652|Orphanet:90160	ordo_disease
HGNC:20407	biolink:NamedThing	CALR3			mondo.json		http://identifiers.org/hgnc/20407		
MONDO:0032576	biolink:Disease	obsolete MONDO:0032576			mondo.json		http://purl.obolibrary.org/obo/MONDO_0032576		
NCBITaxon:1437201	biolink:OrganismalEntity	Pentapetalae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1437201		
MONDO:0032573	biolink:Disease	bone marrow failure syndrome 5		OMIM:618165	mondo.json	BMFS5|BONE MARROW FAILURE SYNDROME 5	http://purl.obolibrary.org/obo/MONDO_0032573	https://omim.org/entry/618165	
MONDO:0019551	biolink:Disease	hereditary motor and sensory neuropathy type 6		DOID:0080068|Orphanet:90120|UMLS:C0393807	mondo.json	CMT6|hereditary motor and sensory neuropathy type 6|Charcot-Marie-Tooth disease type 6|peripheral neuropathy and optic atrophy	http://purl.obolibrary.org/obo/MONDO_0019551	UMLS:C0393807|DOID:0080068|Orphanet:90120	ordo_disease
MONDO:0019550	biolink:Disease	hereditary motor and sensory neuropathy with acrodystrophy	A rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.	UMLS:CN206379|Orphanet:90119	mondo.json	HMSN with acrodystrophy|autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy|AR-CMT2 with acrodystrophy|autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy	http://purl.obolibrary.org/obo/MONDO_0019550	UMLS:CN206379|Orphanet:90119	ordo_disease
MONDO:0032574	biolink:Disease	osteochondrodysplasia, brachydactyly, and overlapping malformed digits		OMIM:618167	mondo.json	OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS|OCBMD	http://purl.obolibrary.org/obo/MONDO_0032574	https://omim.org/entry/618167	
MONDO:0019553	biolink:Disease	drug-induced localized lipodystrophy	Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present.	SCTID:403661001|UMLS:CN227649|Orphanet:90157	mondo.json	lipoatrophy caused by injected drug	http://purl.obolibrary.org/obo/MONDO_0019553	http://identifiers.org/snomedct/403661001|UMLS:CN227649|Orphanet:90157	ordo_disease
MONDO:0032571	biolink:Disease	spondyloepimetaphyseal dysplasia, Krakow type		OMIM:618162	mondo.json	SEMDK|SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE|Immunoosseous Dysplasia, Krakow Type	http://purl.obolibrary.org/obo/MONDO_0032571	https://omim.org/entry/618162	
HP:0004374	biolink:PhenotypicFeature	Hemiplegia/hemiparesis	Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.	UMLS:C0375206	mondo.json	Paralysis or weakness of one side of body	http://purl.obolibrary.org/obo/HP_0004374		
GO:0017099	biolink:NamedThing	very-long-chain-acyl-CoA dehydrogenase activity	Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor, where the acyl group is a very long chain fatty acid residue. A very long-chain fatty acid is a fatty acid which has a chain length greater than C22.		mondo.json	very long-chain-acyl-CoA dehydrogenase activity	http://purl.obolibrary.org/obo/GO_0017099		
GO:0030073	biolink:NamedThing	insulin secretion	The regulated release of proinsulin from secretory granules accompanied by cleavage of proinsulin to form mature insulin. In vertebrates, insulin is secreted from B granules in the B cells of the vertebrate pancreas and from insulin-producing cells in insects.		mondo.json		http://purl.obolibrary.org/obo/GO_0030073		
MONDO:0032572	biolink:Disease	cardiac, facial, and digital anomalies with developmental delay		OMIM:618164	mondo.json	CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY|CAFDADD	http://purl.obolibrary.org/obo/MONDO_0032572	https://omim.org/entry/618164	
MONDO:0019552	biolink:Disease	centrifugal lipodystrophy	Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving.	Orphanet:90156	mondo.json	lipodystrophia centrifugalis abdominalis infantilis	http://purl.obolibrary.org/obo/MONDO_0019552	Orphanet:90156	ordo_disease
HGNC:20422	biolink:NamedThing	POLR1D			mondo.json		http://identifiers.org/hgnc/20422		
HGNC:20423	biolink:NamedThing	SPATA7			mondo.json		http://identifiers.org/hgnc/20423		
MONDO:0007579	biolink:Disease	obsolete esterase C		OMIM:133270	mondo.json	esterase type C|esterase C|ESC	http://purl.obolibrary.org/obo/MONDO_0007579	https://omim.org/entry/133270	
MONDO:0032579	biolink:Disease	warburg-cinotti syndrome		OMIM:618175	mondo.json	WRCN|WARBURG-CINOTTI SYNDROME	http://purl.obolibrary.org/obo/MONDO_0032579	https://omim.org/entry/618175	
MONDO:0007577	biolink:Disease	esophageal ring, lower		OMIM:133240|UMLS:C0341137|SCTID:235623002|MESH:C562765|ICD9:750.3	mondo.json	esophageal ring, lower	http://purl.obolibrary.org/obo/MONDO_0007577	https://omim.org/entry/133240|UMLS:C0341137|http://identifiers.org/snomedct/235623002|http://identifiers.org/mesh/C562765	
MONDO:0020533	biolink:Disease	streptobacillary rat-bite fever	Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats.	DOID:13238|Orphanet:99905|ICD9:026.1|UMLS:C0152063|SCTID:52138004|UMLS:CN207435	mondo.json	streptobacillary rat-bite fever|Streptobacillosis|Streptobacillary fever|Haverhill fever	http://purl.obolibrary.org/obo/MONDO_0020533	UMLS:C0152063|http://identifiers.org/snomedct/52138004|Orphanet:99905|DOID:13238|UMLS:CN207435	ordo_etiological_subtype
UBERON:0004190	biolink:AnatomicalEntity	renal glomerulus vasculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004190		
MONDO:0007578	biolink:Disease	obsolete esterase B		OMIM:133260|MESH:C049262	mondo.json	esterase type B|esterase B|ESB	http://purl.obolibrary.org/obo/MONDO_0007578	http://identifiers.org/mesh/C049262|https://omim.org/entry/133260	
MONDO:0020532	biolink:Disease	spirillary rat-bite fever	Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia.	SCTID:19044004|Orphanet:99903|DOID:12096|ICD9:026.0	mondo.json	Spirillary fever|spirillosis|sodoku disease|sodoku	http://purl.obolibrary.org/obo/MONDO_0020532	http://identifiers.org/snomedct/19044004|Orphanet:99903|DOID:12096	ordo_etiological_subtype
MONDO:0020531	biolink:Disease	long chain acyl-CoA dehydrogenase deficiency	A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.	MESH:C535690|GARD:0009700|UMLS:C0220711|SCTID:237996001|Orphanet:99900|NCIT:C84537	mondo.json	inborn long-chain-acyl-CoA dehydrogenase activity disorder|LCAD|long-chain acyl-CoA dehydrogenase deficiency|inborn error of long-chain-acyl-CoA dehydrogenase activity|long chain acyl-CoA dehydrogenase deficiency|rare inborn error of long-chain-acyl-CoA dehydrogenase activity|acyl-CoA dehydrogenase, long-chain deficiency|long-chain acyl-Coenzyme A dehydrogenase deficiency|ACADL deficiency|LCAD deficiency	http://purl.obolibrary.org/obo/MONDO_0020531	UMLS:C0220711|NCIT:C84537|http://identifiers.org/snomedct/237996001|Orphanet:99900|http://identifiers.org/mesh/C535690	ordo_disease
GO:0140513	biolink:NamedThing	nuclear protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together in the nucleus.		mondo.json	nuclear complex	http://purl.obolibrary.org/obo/GO_0140513		
MONDO:0007575	biolink:Disease	obsolete erythrokeratodermia variabilis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007575		
MONDO:0020530	biolink:Disease	mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency	Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).	UMLS:C2930924|OMIM:209950|GARD:0003011|Orphanet:99898|MESH:C535530	mondo.json	interferon gamma, receptor 1, deficiency|MSMD due to complete interferon gamma receptor 1 deficiency|IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|IFNGR1 deficiency|MSMD due to complete IFNgammaR1 deficiency|Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR1	http://purl.obolibrary.org/obo/MONDO_0020530	UMLS:C2930924|Orphanet:99898|http://identifiers.org/mesh/C535530	ordo_disease|predisposition
MONDO:0007576	biolink:Disease	esophageal cancer	A primary or metastatic malignant neoplasm involving the esophagus.	ICD9:150.9|ICD9:150.5|ICD9:150.4|UMLS:C0546837|ICD9:150.3|ICD9:150.8|SCTID:187724003|UMLS:C0496775|DOID:5041|NCIT:C4764|OMIM:133239|GARD:0006383|NCIT:C7478|ICD9:150.2|SCTID:363402007	mondo.json	malignant neoplasm of middle third of oesophagus|malignant tumor of proximal third of esophagus|malignant neoplasm of proximal third of esophagus|cancer of esophagus|Escc, susceptibility to|esophagus cancer|malignant esophageal tumor|Ca middle third oesophagus|malignant tumor of abdominal esophagus|malignant neoplasm of lower third of oesophagus|esophageal squamous cell carcinoma, somatic|malignant neoplasm of esophagus|malignant neoplasm of the esophagus|malignant neoplasm of distal third of esophagus|malignant esophagus tumor|gastric cardia adenocarcinoma, susceptibility to|malignant tumor of distal third of esophagus|malignant tumor of the middle third of the esophagus|malignant esophagus neoplasm|Ca lower third oesophagus|esophageal squamous cell carcinoma, susceptibility to|esophageal cancer, somatic|esophageal cancer|malignant tumor of the esophagus|malignant tumor of esophagus|Aerodigestive tract cancer, susceptibility to|esophageal carcinoma, somatic|malignant neoplasm of upper third esophagus|malignant esophageal neoplasm	http://purl.obolibrary.org/obo/MONDO_0007576	https://omim.org/entry/133239|NCIT:C7478|http://identifiers.org/snomedct/363402007|UMLS:C0546837|DOID:5041	
MONDO:0007573	biolink:Disease	acute erythroleukemia, familial	An instance of acute erythroleukemia that is caused by an inherited modification of the individual's genome.	EFO:0000218|OMIM:133180|ICD9:207.0|MESH:C565039	mondo.json	ERYTHROLEUKEMIA, familial|hereditary acute erythroid leukemia|erythroleukemia, familial, susceptibility to|leukemia, acute myelogenous, M6|Di Guglielmo disease, familial	http://purl.obolibrary.org/obo/MONDO_0007573	http://identifiers.org/mesh/C565039|https://omim.org/entry/133180	
MONDO:0007574	biolink:Disease	spinocerebellar ataxia type 34	Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.	OMIM:133190|DOID:0050981|SCTID:719255000|Orphanet:1955|MESH:C535738|UMLS:C1851481|GARD:0000059	mondo.json	spinocerebellar ataxia 34|Giroux Barbeau syndrome|spinocerebellar ataxia type 34|erythrokeratodermia with ataxia|erythrokeratodermia - ataxia|SCA34|spinocerebellar ataxia and erythrokeratodermia	http://purl.obolibrary.org/obo/MONDO_0007574	DOID:0050981|http://identifiers.org/mesh/C535738|http://identifiers.org/snomedct/719255000|UMLS:C1851481|https://omim.org/entry/133190|Orphanet:1955	ordo_disease|gard_rare
MONDO:0007571	biolink:Disease	primary erythermalgia	Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.	NCIT:C125383|GARD:0006377|UMLS:C0014805|SCTID:709489006|OMIM:133020|Orphanet:90026	mondo.json	PERYTHM|erythromelalgia, primary|erythromelalgia, familial|Mitchell disease (formerly)|small fiber neuropathy|erythermalgia, primary|primary erythromelalgia|neuropathy, small Fiber	http://purl.obolibrary.org/obo/MONDO_0007571	http://identifiers.org/snomedct/709489006|NCIT:C125383|Orphanet:90026|UMLS:C0014805|https://omim.org/entry/133020	ordo_disease
MONDO:0007572	biolink:Disease	primary familial polycythemia due to EPO receptor mutation	Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.	SCTID:17342003|GARD:0009843|Orphanet:90042|OMIM:133100|ICD9:289.6|DOID:0060652	mondo.json	erythrocytosis, somatic|primary congenital erythrocytosis|polycythemia, primary familial and congenital|congenital polycythemia due to erythropoietin receptor mutation|autosomal dominant benign erythrocytosis|erythrocytosis, autosomal dominant benign|primary familial polycythemia|primary familial and congenital polycythemia|PFCP|familial erythrocytosis type 1|EPOR familial polycythemia|ECYT1|congenital erythrocytosis due to erythropoietin receptor mutation|familial polycythemia caused by mutation in EPOR|familial erythrocytosis, 1|erythrocytosis, familial, 1|erythrocytosis autosomal dominant benign|erythrocytosis, familial, type 1|familial erythrocytosis|familial erythrocytosis 1	http://purl.obolibrary.org/obo/MONDO_0007572	DOID:0060652|Orphanet:90042|http://identifiers.org/snomedct/17342003|https://omim.org/entry/133100	ordo_disease|gard_rare
MONDO:0032580	biolink:Disease	nephrotic syndrome, type 17		DOID:0080392|OMIM:618176	mondo.json	NEPHROTIC SYNDROME, TYPE 17|NPHS17	http://purl.obolibrary.org/obo/MONDO_0032580	https://omim.org/entry/618176|DOID:0080392	
UBERON:0004198	biolink:AnatomicalEntity	comma-shaped body			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004198		
MONDO:0007570	biolink:Disease	erythema palmare hereditarium	A rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient.	MESH:C565041|UMLS:C1851502|Orphanet:231031|SCTID:763767006|OMIM:133000	mondo.json	lane disease|erythema palmare hereditarium|Red palms disease	http://purl.obolibrary.org/obo/MONDO_0007570	http://identifiers.org/snomedct/763767006|UMLS:C1851502|Orphanet:231031|http://identifiers.org/mesh/C565041|https://omim.org/entry/133000	ordo_disease
MONDO:0020529	biolink:Disease	ACTH-independent Cushing syndrome	Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC).	Orphanet:99893|UMLS:CN207429	mondo.json	corticotropin-independent Cushing syndrome|adrenocorticotropic hormone-independent Cushing syndrome|adrenal Cushing syndrome	http://purl.obolibrary.org/obo/MONDO_0020529	Orphanet:99893|UMLS:CN207429	ordo_group_of_disorders|disease_grouping
MONDO:0032581	biolink:Disease	nephrotic syndrome, type 18		DOID:0080393|OMIM:618177	mondo.json	NEPHROTIC SYNDROME, TYPE 18|NPHS18	http://purl.obolibrary.org/obo/MONDO_0032581	https://omim.org/entry/618177|DOID:0080393	
UBERON:0004199	biolink:AnatomicalEntity	S-shaped body			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004199		
MONDO:0020528	biolink:Disease	ACTH-dependent Cushing syndrome	Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH).	SCTID:190502001|EFO:1001110|UMLS:C0221406|DOID:3946|MedDRA:10035109|Orphanet:99892|MESH:D047748|SCTID:237734007|UMLS:C0342442|ICD10CM:E24.0|NCIT:C113210	mondo.json	corticotropin-dependent Cushing syndrome|ACTH-dependent CS|adrenocorticotropic hormone-dependent Cushing syndrome|adrenocorticotropic hormone, inappropriate secretion|pituitary-dependent Cushing's disease|pituitary Cushing disease|pituitary Cushing diseases|ACTH hypersecretion, pituitary|pituitary-dependent Cushing disease|overproduction of ACTH|pituitary Cushing syndrome	http://purl.obolibrary.org/obo/MONDO_0020528	UMLS:C0342442|http://identifiers.org/snomedct/237734007|DOID:3946|http://identifiers.org/snomedct/190502001|http://identifiers.org/mesh/D047748|http://purl.bioontology.org/ontology/ICD10CM/E24.0|Orphanet:99892	ordo_group_of_disorders|disease_grouping
MONDO:0020527	biolink:Disease	ectopic Cushing syndrome	Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor.	UMLS:CN207427|DOID:0060890|Orphanet:99889	mondo.json	Cushing syndrome due to ectopic ACTH secretion|ectopic ACTH secreting tumor|occult ectopic ACTH secretion|paraneoplastic Cushing syndrome|adrenocorticotropic hormone secretion syndrome|ectopic Cushing syndrome	http://purl.obolibrary.org/obo/MONDO_0020527	UMLS:CN207427|DOID:0060890|Orphanet:99889	ordo_disease
MONDO:0019548	biolink:Disease	autosomal dominant intermediate Charcot-Marie-Tooth disease	Autosomal dominant form of intermediate Charcot-Marie-Tooth disease.	GARD:0012436|UMLS:CN206376|Orphanet:90114	mondo.json	CMTDI|intermediate Charcot-Marie-Tooth disease, autosomal dominant|autosomal dominant intermediate Charcot-Marie-Tooth disease|autosomal dominant intermediate Charcot-Marie-Tooth	http://purl.obolibrary.org/obo/MONDO_0019548	Orphanet:90114|UMLS:CN206376	disease_grouping|ordo_group_of_disorders
MONDO:0020526	biolink:Disease	acute megakaryoblastic leukemia in down syndrome		UMLS:CN207426|Orphanet:99887	mondo.json	DS-AMKL	http://purl.obolibrary.org/obo/MONDO_0020526	UMLS:CN207426|Orphanet:99887	ordo_clinical_subtype
MONDO:0019547	biolink:Disease	Wells syndrome	Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia.	UMLS:C0343101|Orphanet:901|MESH:C536693|GARD:0000329|ICD9:682.9|SCTID:238931006	mondo.json	bullous cellulitis with eosinophilia|eosinophilic cellulitis|Wells' syndrome	http://purl.obolibrary.org/obo/MONDO_0019547	UMLS:C0343101|http://identifiers.org/mesh/C536693|Orphanet:901|http://identifiers.org/snomedct/238931006	ordo_disease|gard_rare
MONDO:0020525	biolink:Disease	transient neonatal diabetes mellitus	Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.	SCTID:237603002|GARD:0001839|NCIT:C114899|HP:0008255|DOID:0060334	mondo.json	diabetes mellitus, 6q24-related transient neonatal|chromosome 6-associated transient diabetes mellitus|diabetes mellitus, transient neonatal|transient neonatal diabetes mellitus|TNDM|transient neonatal diabetes mellitus (disease)	http://purl.obolibrary.org/obo/MONDO_0020525	DOID:0060334|NCIT:C114899|http://identifiers.org/snomedct/237603002	ordo_disease
MONDO:0020524	biolink:Disease	primary parathyroid hyperplasia		Orphanet:99878	mondo.json	hereditary parathyroids hyperplasia|familial parathyroids hyperplasia	http://purl.obolibrary.org/obo/MONDO_0020524	Orphanet:99878	ordo_disease
HGNC:19439	biolink:NamedThing	KCNK18			mondo.json		http://identifiers.org/hgnc/19439		
MONDO:0019549	biolink:Disease	severe early-onset axonal neuropathy due to MFN2 deficiency	A rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.	SCTID:766977007|UMLS:CN206378|Orphanet:90118	mondo.json	autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type|AR-CMT2, Ouvrier type|SEOAN due to MFN2 deficiency	http://purl.obolibrary.org/obo/MONDO_0019549	Orphanet:90118|UMLS:CN206378|http://identifiers.org/snomedct/766977007	ordo_disease
MONDO:0020523	biolink:Disease	familial parathyroid adenoma	An instance of parathyroid gland adenoma that is caused by an inherited modification of the individual's genome.	UMLS:C1840403|Orphanet:99877|OMIM:145000	mondo.json	hereditary parathyroid gland adenoma	http://purl.obolibrary.org/obo/MONDO_0020523	UMLS:C1840403|Orphanet:99877	ordo_disease
MONDO:0019544	biolink:Disease	cocaine intoxication		SCTID:27956007|ICD9:292.89|Orphanet:90068	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019544	http://identifiers.org/snomedct/27956007|Orphanet:90068	ordo_disease
MONDO:0032588	biolink:Disease	periventricular nodular heterotopia 8		OMIM:618185	mondo.json	PERIVENTRICULAR NODULAR HETEROTOPIA 8|PVNH8	http://purl.obolibrary.org/obo/MONDO_0032588	https://omim.org/entry/618185	
MONDO:0019543	biolink:Disease	acquired aneurysmal subarachnoid hemorrhage	Acquired aneurysmal subarachnoid hemorrhage is a serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures.	Orphanet:90065|UMLS:CN206370	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019543	UMLS:CN206370|Orphanet:90065	ordo_clinical_situation
HP:0004381	biolink:PhenotypicFeature	Supravalvular aortic stenosis	A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow.	SNOMEDCT_US:268185002|UMLS:C0003499|MSH:D021921|Fyler:1430	mondo.json		http://purl.obolibrary.org/obo/HP_0004381		
MONDO:0032586	biolink:Disease	diarrhea 10, protein-losing enteropathy type		OMIM:618183	mondo.json	DIAR10|DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE	http://purl.obolibrary.org/obo/MONDO_0032586	https://omim.org/entry/618183	
MONDO:0019546	biolink:Disease	obsolete other acquired skin disease		Orphanet:90077|UMLS:CN206373	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019546	UMLS:CN206373|Orphanet:90077	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0019545	biolink:Disease	systemic monochloroacetate poisoning	Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours.	Orphanet:90069	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019545	Orphanet:90069	ordo_disease
MONDO:0019540	biolink:Disease	diffuse alveolar hemorrhage		UMLS:CN206369|Orphanet:90060|HP:0025420	mondo.json	diffuse alveolar hemorrhage|diffuse alveolar hemorrhage (disease)	http://purl.obolibrary.org/obo/MONDO_0019540	UMLS:CN206369|Orphanet:90060	ordo_clinical_situation
MONDO:0032584	biolink:Disease	ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis		OMIM:618180|DOID:0111662	mondo.json	ECTD14|ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS	http://purl.obolibrary.org/obo/MONDO_0032584	DOID:0111662|https://omim.org/entry/618180	
MONDO:0019542	biolink:Disease	acute liver failure	Rapid deterioration of liver function causing encephalopathy and coagulopathy. It results from damage to the liver parenchyma usually secondary to acetaminophen overdose or viral infections.	MESH:D017114|UMLS:C0162557|SCTID:197270009|Orphanet:90062|MedDRA:10000804|NCIT:C84396	mondo.json	acute hepatic failure|fulminant hepatic failure	http://purl.obolibrary.org/obo/MONDO_0019542	UMLS:C0162557|http://identifiers.org/snomedct/197270009|http://identifiers.org/mesh/D017114|NCIT:C84396|Orphanet:90062	ordo_clinical_situation
MONDO:0032582	biolink:Disease	nephrotic syndrome, type 19		DOID:0080394|OMIM:618178	mondo.json	NEPHROTIC SYNDROME, TYPE 19|NPHS19	http://purl.obolibrary.org/obo/MONDO_0032582	https://omim.org/entry/618178|DOID:0080394	
MONDO:0019541	biolink:Disease	non-infectious posterior uveitis		Orphanet:90061	mondo.json	non-infectious choroiditis	http://purl.obolibrary.org/obo/MONDO_0019541	Orphanet:90061	ordo_group_of_disorders|disease_grouping
MONDO:0032583	biolink:Disease	microcephaly 24, primary, autosomal recessive		OMIM:618179	mondo.json	MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE|MCPH24	http://purl.obolibrary.org/obo/MONDO_0032583	https://omim.org/entry/618179	
FOODON:03411134	biolink:NamedThing	mammal	Mammals (from Latin mamma "breast") are vertebrate animals constituting the class Mammalia, and characterized by the presence of mammary glands which in females produce milk for feeding (nursing) their young, a neocortex (a region of the brain), fur or hair, and three middle ear bones.		mondo.json		http://purl.obolibrary.org/obo/FOODON_03411134		
HP:0031983	biolink:PhenotypicFeature	Abnormal pulmonary thoracic imaging finding	This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density.		mondo.json	Abnormal chest radiograph finding (lung)	http://purl.obolibrary.org/obo/HP_0031983		
CHR:9606-chrXp22.3	biolink:NamedThing	Xp22.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chrXp22.3		
GO:0030057	biolink:NamedThing	desmosome	A cell-cell junction in which: on the cytoplasmic surface of each interacting plasma membrane is a dense plaque composed of a mixture of intracellular anchor proteins; a bundle of keratin intermediate filaments is attached to the surface of each plaque; transmembrane adhesion proteins of the cadherin family bind to the plaques and interact through their extracellular domains to hold the adjacent membranes together by a Ca2+-dependent mechanism.		mondo.json	macula adherens|spot desmosome	http://purl.obolibrary.org/obo/GO_0030057		
GO:0030054	biolink:NamedThing	cell junction	A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.		mondo.json		http://purl.obolibrary.org/obo/GO_0030054		
MONDO:0020591	biolink:Disease	obsolete disorder of peritoneum	OBSOLETE. A non-neoplastic or neoplastic disorder that affects the peritoneal cavity. Representative examples of non-neoplastic disorders include peritonitis and panniculitis. Representative examples of neoplastic disorders include adenomatoid tumor, primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma.	NCIT:C26848|SCTID:66579008|MESH:D010532|UMLS:C0031142	mondo.json	disorder of peritoneum|peritoneal disorder|disease or disorder of peritoneum|disease of peritoneum|peritoneal disease|peritoneum disease|peritoneum disease or disorder	http://purl.obolibrary.org/obo/MONDO_0020591	http://identifiers.org/snomedct/66579008|http://identifiers.org/mesh/D010532|NCIT:C26848|UMLS:C0031142	
MONDO:0020590	biolink:Disease	mycobacterial infectious disease	Infection due to organisms from the genus Mycobacteria.	UMLS:C0026918|MESH:D009164|SCTID:88415009|NCIT:C26831	mondo.json	mycobacterial infection|mycobacterium infection|mycobacteriosis	http://purl.obolibrary.org/obo/MONDO_0020590	http://identifiers.org/snomedct/88415009|NCIT:C26831|http://identifiers.org/mesh/D009164|UMLS:C0026918	
FOODON:03411142	biolink:NamedThing	aquatic invertebrate animal (excluding shellfish)	Aquatic animals other than fish and shellfish		mondo.json		http://purl.obolibrary.org/obo/FOODON_03411142		
MONDO:0020599	biolink:Disease	acquired coagulation factor deficiency	Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease.	SCTID:25904003|NCIT:C34347|UMLS:C0001169	mondo.json	acquired coagulation factor deficiency|acquired coagulation protein disease	http://purl.obolibrary.org/obo/MONDO_0020599	UMLS:C0001169|NCIT:C34347|http://identifiers.org/snomedct/25904003	
MONDO:0020598	biolink:Disease	malabsorption syndrome	A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea.	SCTID:32230006|MESH:D008286|UMLS:C0024523|NCIT:C3214	mondo.json	malabsorption syndrome|malabsorption	http://purl.obolibrary.org/obo/MONDO_0020598	http://identifiers.org/mesh/D008286|UMLS:C0024523|NCIT:C3214|http://identifiers.org/snomedct/32230006	
MONDO:0020597	biolink:Disease	angiokeratoma of scrotum	An angiokeratoma that is located on the scrotum.	SCTID:735082004|NCIT:C7752	mondo.json	angiokeratoma of the scrotum|scrotum angiokeratoma|angiokeratoma of fordyce|angiokeratoma of scrotum|scrotal fordyce-type angiokeratoma|scrotal angiokeratoma|fordyce angiokeratoma|fordyce-type angiokeratoma of the scrotum|fordyce-type angiokeratoma of scrotum	http://purl.obolibrary.org/obo/MONDO_0020597	http://identifiers.org/snomedct/735082004|NCIT:C7752	
MONDO:0020596	biolink:Disease	mucin-producing carcinoma		NCIT:C27825	mondo.json	mucin-producing carcinoma	http://purl.obolibrary.org/obo/MONDO_0020596	NCIT:C27825	
MONDO:0020595	biolink:Disease	obsolete disorder of retroperitoneum	OBSOLETE. A disease or disorder that involves the retroperitoneal space.	SCTID:734045002|NCIT:C27667	mondo.json	retroperitoneal disease|disease or disorder of retroperitoneal space|retroperitoneal space disease or disorder|retroperitoneal space disease|disease of retroperitoneal space|disorder of retroperitoneal space|retroperitoneal disorder	http://purl.obolibrary.org/obo/MONDO_0020595	NCIT:C27667|http://identifiers.org/snomedct/734045002	
MONDO:0020594	biolink:Disease	abducens nerve disorder	A non-neoplastic or neoplastic disorder affecting the abducens nerve (sixth cranial nerve).	SCTID:398925009|NCIT:C27593	mondo.json	abducens nerve disease|abducens nerve disease or disorder|VIth nerve disorder|abducens nerve disorder|disorder of abducens nerve|disease of abducens nerve|disease or disorder of abducens nerve	http://purl.obolibrary.org/obo/MONDO_0020594	NCIT:C27593|http://identifiers.org/snomedct/398925009	
MONDO:0020593	biolink:Disease	trichoblastoma	A benign hair follicle neoplasm with trichoblastic differentiation. It usually presents as a solitary papular lesion It most often presents on the head and neck area, but it may develop in any anatomic site containing hair follicles. Because of its benign nature, treatment usually is not required, provided that the diagnosis has been established with certainty.	ICDO:8100/0|NCIT:C27132	mondo.json	trichogenic trichoblastoma|trichoepithelioma, benign|trichoblastoma|Brooke's tumor|trichoepithelioma|trichogenic adnexal tumor	http://purl.obolibrary.org/obo/MONDO_0020593	NCIT:C27132	
MONDO:0020592	biolink:Disease	disorder of pharynx	A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma.	NCIT:C26850|SCTID:75860007|GARD:0007266	mondo.json	chordate pharynx disease or disorder|chordate pharynx disease|disorder of chordate pharynx|pharyngeal disorder|disease of chordate pharynx|pharyngeal disease|disease or disorder of chordate pharynx	http://purl.obolibrary.org/obo/MONDO_0020592	http://identifiers.org/snomedct/75860007|NCIT:C26850	
OBO:mondo#may_be_merged_into	biolink:NamedThing	may_be_merged_into			mondo.json		http://purl.obolibrary.org/obo/mondo#may_be_merged_into		
MONDO:0020589	biolink:Disease	cardiac germ cell tumor	A germ cell tumor that arises within the myocardium or cardiac chambers. The reported cases have been teratomas and yolk sac tumors.	NCIT:C147005	mondo.json	cardiac germ cell tumor|heart germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0020589	NCIT:C147005	
HGNC:19414	biolink:NamedThing	DPY19L2			mondo.json		http://identifiers.org/hgnc/19414		
HGNC:19412	biolink:NamedThing	ZMYND10			mondo.json		http://identifiers.org/hgnc/19412		
NCBITaxon:2845253	biolink:OrganismalEntity	Treponemataceae		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2845253		
MONDO:0020580	biolink:Disease	germinomatous germ cell tumor	A term that refers to germinoma, seminoma, or dysgerminoma.	NCIT:C121618|UMLS:C4054897	mondo.json	germinomatous germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0020580	NCIT:C121618|UMLS:C4054897	
MONDO:0019591	biolink:Disease	panhypopituitarism	Insufficient production of all the anterior pituitary hormones.	NCIT:C110940|ICD9:253.2|Orphanet:90695|MedDRA:10033662|SCTID:32390006|UMLS:C0242343|DOID:9410	mondo.json	Simmonds' disease|Simmond's disease|complete hypopituitarism	http://purl.obolibrary.org/obo/MONDO_0019591	UMLS:C0242343|NCIT:C110940|http://identifiers.org/snomedct/32390006|Orphanet:90695|DOID:9410	ordo_disease
MONDO:0019590	biolink:Disease	obsolete rare endocrine growth disease		UMLS:CN206437|Orphanet:90692	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019590	Orphanet:90692|UMLS:CN206437	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0019593	biolink:Disease	46,XX disorder of sex development induced by fetal androgens excess		Orphanet:90776|UMLS:CN227655	mondo.json	46,XX DSD induced by fetal androgens excess	http://purl.obolibrary.org/obo/MONDO_0019593	UMLS:CN227655|Orphanet:90776	disease_grouping|ordo_group_of_disorders
MONDO:0019592	biolink:Disease	obsolete disorder of sex development	OBSOLETE. In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of gonadal hormones in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0019592		
MONDO:0032526	biolink:Disease	spinocerebellar ataxia 48		OMIM:618093|DOID:0111746	mondo.json	SPINOCEREBELLAR ATAXIA 48|SCA48	http://purl.obolibrary.org/obo/MONDO_0032526	https://omim.org/entry/618093|DOID:0111746	
MONDO:0020588	biolink:Disease	lung PEComa	A lung tumor that arises from perivascular epithelioid cells (PECs).	NCIT:C142783	mondo.json	lung pecomatous tumor|lung PEComa	http://purl.obolibrary.org/obo/MONDO_0020588	NCIT:C142783	
MONDO:0020587	biolink:Disease	factor XI deficiency	A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood.	NCIT:C131739|SCTID:767713001	mondo.json	factor XI deficiency	http://purl.obolibrary.org/obo/MONDO_0020587	NCIT:C131739|http://identifiers.org/snomedct/767713001	
MONDO:0020586	biolink:Disease	factor V deficiency	A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood.	NCIT:C131738|SCTID:4320005	mondo.json	factor V deficiency	http://purl.obolibrary.org/obo/MONDO_0020586	http://identifiers.org/snomedct/4320005|NCIT:C131738	
MONDO:0020585	biolink:Disease	anemia due to erythrocyte enzyme disorder	Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis.	UMLS:C4329304|NCIT:C131630	mondo.json	anemia due to erythrocyte enzyme disorder	http://purl.obolibrary.org/obo/MONDO_0020585	UMLS:C4329304|NCIT:C131630	
MONDO:0020584	biolink:Disease	anemia due to enzyme disorder	Any form of anemia that results from the absence of, or the defective action of, any enzyme.	NCIT:C35472|UMLS:C0494226	mondo.json	anemia due to enzyme disorder	http://purl.obolibrary.org/obo/MONDO_0020584	NCIT:C35472|UMLS:C0494226	
MONDO:0020583	biolink:Disease	chromosome 17 disorder	Chromosomal disorder in which chromosome 17 is affected.	NCIT:C129438	mondo.json	chromosome 17 abnormality	http://purl.obolibrary.org/obo/MONDO_0020583		
MONDO:0020582	biolink:Disease	benign uterine ligament neoplasm	A non-metastasizing neoplasm that arises from the uterine ligament.	NCIT:C126493|UMLS:C0865093	mondo.json	benign uterine ligament neoplasm	http://purl.obolibrary.org/obo/MONDO_0020582	UMLS:C0865093|NCIT:C126493	
MONDO:0020581	biolink:Disease	benign PEComa	A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures.	UMLS:C3839685|NCIT:C121791	mondo.json	typical PEComa|benign PEComa, not otherwise specified|neoplasm with perivascular epithelioid cell differentiation, benign|benign PEComa|benign PEComa, nos|benign neoplasm with perivascular epithelioid cell differentiation	http://purl.obolibrary.org/obo/MONDO_0020581	NCIT:C121791|UMLS:C3839685	
MONDO:0020579	biolink:Disease	mucositis	Inflammation of the mucous membranes.	NCIT:C115965	mondo.json	mucosa inflammation|inflammation of mucosa|mucositis	http://purl.obolibrary.org/obo/MONDO_0020579	NCIT:C115965	
MONDO:0020578	biolink:Disease	obsolete vitamin D deficiency	OBSOLETE. Abnormally low level of 25-hydroxyvitamin D in the blood.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0020578		
MONDO:0019599	biolink:Disease	primary lipodystrophy	Primary lipodystrophies represent a heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy).	Orphanet:90970	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019599	Orphanet:90970	disease_grouping|ordo_group_of_disorders
MONDO:0019598	biolink:Disease	obsolete fragile X syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019598		
MONDO:0019595	biolink:Disease	obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect		Orphanet:90786|UMLS:CN227657	mondo.json	46,XY DSD due to adrenal and testicular steroidogenesis defect	http://purl.obolibrary.org/obo/MONDO_0019595	UMLS:CN227657|Orphanet:90786	ordo_group_of_disorders
GO:0030031	biolink:NamedThing	cell projection assembly	Formation of a prolongation or process extending from a cell, e.g. a flagellum or axon.		mondo.json	cell projection biogenesis|formation of a cell surface projection	http://purl.obolibrary.org/obo/GO_0030031		
MONDO:0019594	biolink:Disease	obsolete 46,XY disorder of sex development due to a testosterone synthesis defect		Orphanet:90783|UMLS:CN227656	mondo.json	46,XY DSD due to a testosterone synthesis defect	http://purl.obolibrary.org/obo/MONDO_0019594	UMLS:CN227656|Orphanet:90783	ordo_group_of_disorders
MONDO:0019597	biolink:Disease	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.	Orphanet:90796|UMLS:CN206443	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019597	Orphanet:90796|UMLS:CN206443	ordo_disease
GO:0030030	biolink:NamedThing	cell projection organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon.		mondo.json	cell surface structure organization and biogenesis|cell projection organization and biogenesis|cell projection organisation	http://purl.obolibrary.org/obo/GO_0030030		
MONDO:0019596	biolink:Disease	obsolete 46,XY disorder of sex development due to testicular steroidogenesis defect		Orphanet:90787|UMLS:CN227658	mondo.json	46,XY DSD due to testicular steroidogenesis defect	http://purl.obolibrary.org/obo/MONDO_0019596	UMLS:CN227658|Orphanet:90787	ordo_group_of_disorders
MONDO:0019580	biolink:Disease	papular mucinosis of infancy	Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk.	SCTID:717259002|UMLS:C4273966|Orphanet:90395	mondo.json	cutaneous mucinosis of infancy	http://purl.obolibrary.org/obo/MONDO_0019580	http://identifiers.org/snomedct/717259002|Orphanet:90395|UMLS:C4273966	ordo_disease
CHEBI:139590	biolink:ChemicalSubstance	primary alpha-hydroxy ketone	An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a -CH2 (methylene) group.		mondo.json	primary alpha-hydroxy-ketone|primary alpha-hydroxyketones|primary alpha-hydroxyketone|primary alpha-hydroxy-ketones|primary alpha-hydroxy ketones	http://purl.obolibrary.org/obo/CHEBI_139590		
MONDO:0019582	biolink:Disease	self-healing papular mucinosis	Self-healing papular mucinosis is a rare form of localized lichen myxedematosus occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness.	Orphanet:90397	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019582	Orphanet:90397	ordo_disease
MONDO:0019581	biolink:Disease	acral persistent papular mucinosis	Acral persistent papular mucinosis is a rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms.	UMLS:C0406660|Orphanet:90396|SCTID:238949006|ICD9:701.8	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019581	http://identifiers.org/snomedct/238949006|Orphanet:90396|UMLS:C0406660	ordo_disease
CHEBI:139592	biolink:ChemicalSubstance	tertiary alpha-hydroxy ketone	An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a carbon bearing two organyl groups.		mondo.json	tertiary alpha-hydroxy-ketone|tertiary alpha-hydroxyketones|tertiary alpha-hydroxyketone|tertiary alpha-hydroxy-ketones|tertiary alpha-hydroxy ketones	http://purl.obolibrary.org/obo/CHEBI_139592		
GO:0032689	biolink:NamedThing	negative regulation of interferon-gamma production	Any process that stops, prevents, or reduces the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon.		mondo.json	down regulation of interferon-gamma production|inhibition of interferon-gamma production|negative regulation of interferon-gamma biosynthetic process|downregulation of interferon-gamma production|negative regulation of type II interferon production|negative regulation of interferon-gamma secretion|down-regulation of interferon-gamma production	http://purl.obolibrary.org/obo/GO_0032689		
MONDO:0020577	biolink:Disease	childhood gonadal germ cell tumor	A germ cell tumor that arises from the testis or ovary and occurs during childhood.	UMLS:C3899657|NCIT:C114801	mondo.json	gonadal germ cell tumor of childhood|pediatric gonadal germ cell tumor|childhood gonadal germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0020577	UMLS:C3899657|NCIT:C114801	
CHR:9606-chr15q1	biolink:NamedThing	15q1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr15q1		
MONDO:0020576	biolink:Disease	cutaneous vasculitis	Inflammation of the blood vessel wall characterized by palpable purpura.	NCIT:C112210|UMLS:C0262988	mondo.json	cutaneous vasculitis	http://purl.obolibrary.org/obo/MONDO_0020576	NCIT:C112210|UMLS:C0262988	
MONDO:0020575	biolink:Disease	polymorphic ventricular tachycardia	A ventricular tachycardia that is irregular in rate and rhythm.	UMLS:C0344432|SCTID:251159007|NCIT:C111648|HP:0031677	mondo.json	ventricular tachycardia, polymorphic|polymorphic ventricular tachycardia	http://purl.obolibrary.org/obo/MONDO_0020575	UMLS:C0344432|http://identifiers.org/snomedct/251159007|NCIT:C111648	
CHR:9606-chr15q2	biolink:NamedThing	15q2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr15q2		
MONDO:0020574	biolink:Disease	central nervous system nongerminomatous germ cell tumor	Germ cell tumors of the central nervous system other than germinoma. This category includes teratoma, choriocarcinoma, embryonal carcinoma, and yolk sac tumor.	NCIT:C100093|UMLS:C1696109	mondo.json	central nervous system nongerminomatous germ cell tumor|nongerminomatous GCT - CNS|nongerminomatous germ cell tumor of the CNS	http://purl.obolibrary.org/obo/MONDO_0020574	NCIT:C100093|UMLS:C1696109	
MONDO:0020573	biolink:Disease	inherited disease susceptibility	A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.	MESH:D020022|ICD10CM:Z15	mondo.json	genetic susceptibilities|susceptibilities, genetic|genetic predisposition|susceptibility, genetic|genetic predispositions|hereditary predisposition to disease|predispositions, genetic|hereditary disease susceptibility|genetic susceptibility|predisposition, genetic	http://purl.obolibrary.org/obo/MONDO_0020573	http://identifiers.org/mesh/D020022|http://purl.bioontology.org/ontology/ICD10CM/Z15	predisposition
MONDO:0020572	biolink:Disease	complex regional pain syndrome type 2	Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia, not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area.	MESH:D002422|UMLS:C0007462|SCTID:408751001|MedDRA:10007825|Orphanet:99994|DOID:3222|NCIT:C121572|EFO:1000854|MedDRA:10064335	mondo.json	Complex regional pain syndrome II|Complex regional pain syndrome, type II|causalgia|CRPS II	http://purl.obolibrary.org/obo/MONDO_0020572	http://identifiers.org/mesh/D002422|NCIT:C121572|Orphanet:99994|DOID:3222|UMLS:C0007462|http://identifiers.org/snomedct/408751001	ordo_clinical_subtype
MONDO:0020571	biolink:Disease	relapsing epidemic typhus		UMLS:CN207497|Orphanet:99991	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020571	Orphanet:99991|UMLS:CN207497	ordo_clinical_subtype
MONDO:0020570	biolink:Disease	obsolete Brill-Zinsser disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020570		
MONDO:0020569	biolink:Disease	intermediate DEND syndrome	Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome, a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy.	UMLS:CN207495|Orphanet:99989	mondo.json	developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form	http://purl.obolibrary.org/obo/MONDO_0020569	Orphanet:99989|UMLS:CN207495	ordo_clinical_subtype
MONDO:0020568	biolink:Disease	cutaneous myiasis		ICD10CM:B87.0|SCTID:240877000|Orphanet:99983|UMLS:C0027031	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020568	UMLS:C0027031|http://purl.bioontology.org/ontology/ICD10CM/B87.0|Orphanet:99983|http://identifiers.org/snomedct/240877000	ordo_group_of_disorders|disease_grouping
MONDO:0020567	biolink:Disease	apnea of prematurity	Apnea of prematurity is a developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases.	SCTID:276544005|NCIT:C98823|Orphanet:99981	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020567	http://identifiers.org/snomedct/276544005|Orphanet:99981|NCIT:C98823	ordo_clinical_subtype
MONDO:0019588	biolink:Disease	hearing loss, autosomal recessive	Autosomal recessive form of nonsyndromic deafness.	MESH:C564609|OMIM:607197|UMLS:C1846647|Orphanet:90635|GARD:0001710|DOID:0050565|UMLS:CN206424|Orphanet:90636|OMIMPS:220290	mondo.json	autosomal recessive non-syndromic neurosensory deafness type DFNB|autosomal recessive isolated sensorineural deafness type DFNB|deafness, neurosensory nonsyndromic recessive, DFN|autosomal recessive nonsyndromic deafness|nonsyndromic genetic deafness, autosomal recessive|autosomal recessive nonsyndromic genetic deafness|autosomal recessive isolated neurosensory deafness type DFNB|autosomal recessive non-syndromic sensorineural deafness type DFNB|nonsyndromic deafness, autosomal recessive|deafness, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0019588	UMLS:CN206424|https://omim.org/phenotypicSeries/PS220290|https://omim.org/entry/607197|UMLS:C1846647|Orphanet:90636|DOID:0050565|http://identifiers.org/mesh/C564609	clingen|gard_rare|ordo_etiological_subtype|prototype_pattern
MONDO:0019587	biolink:Disease	autosomal dominant nonsyndromic hearing loss	Autosomal dominant form of nonsyndromic deafness.	OMIM:607197|OMIMPS:124900|DOID:0050564|Orphanet:90635|UMLS:CN043649	mondo.json	autosomal dominant non-syndromic neurosensory hearing loss type DFNA|autosomal dominant nonsyndromic genetic deafness|autosomal dominant isolated sensorineural hearing loss type DFNA|autosomal dominant isolated deafness|nonsyndromic genetic deafness, autosomal dominant|autosomal dominant nonsyndromic hearing loss and deafness|autosomal dominant isolated neurosensory deafness type DFNA|autosomal dominant nonsyndromic deafness|autosomal dominant non-syndromic sensorineural deafness type DFNA|deafness, autosomal dominant|autosomal dominant isolated neurosensory hearing loss type DFNA|autosomal dominant non-syndromic sensorineural hearing loss type DFNA|nonsyndromic deafness, autosomal dominant|autosomal dominant non-syndromic neurosensory deafness type DFNA|autosomal dominant nonsyndromic hearing impairment|autosomal dominant deafness|autosomal dominant isolated sensorineural deafness type DFNA	http://purl.obolibrary.org/obo/MONDO_0019587	https://omim.org/phenotypicSeries/PS124900|Orphanet:90635|DOID:0050564|UMLS:CN043649	clingen|ordo_etiological_subtype
CHEBI:139588	biolink:ChemicalSubstance	alpha-hydroxy ketone	An alpha-oxyketone that has a hydroxy group as the alpha-oxy moiety.		mondo.json	alpha-hydroxyketone|alpha-hydroxy-ketones|alpha-hydroxy ketones|alpha-hydroxy-ketone|alpha-hydroxyketones	http://purl.obolibrary.org/obo/CHEBI_139588		
MONDO:0019589	biolink:Disease	obsolete syndromic genetic hearing loss		SCTID:232333009|Orphanet:90642|UMLS:CN206426	mondo.json	syndromic genetic deafness|syndromic hearing loss	http://purl.obolibrary.org/obo/MONDO_0019589	UMLS:CN206426|http://identifiers.org/snomedct/232333009|Orphanet:90642	ordo_group_of_disorders
FOODON:03411161	biolink:NamedThing	obsolete: cattle			mondo.json		http://purl.obolibrary.org/obo/FOODON_03411161		
CHEBI:139589	biolink:ChemicalSubstance	retinoid anion	A carboxylic acid anion obtained by deprotonation of any retinoid carboxy group.		mondo.json	retinoid carboxylate anions|retinoid carboxylic acid anions|retinoates|retinoate|retinoid carboxylic acid anion|retinoid carboxylate anion|retinoid anions	http://purl.obolibrary.org/obo/CHEBI_139589		
MONDO:0019584	biolink:Disease	localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms	Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus, characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus; a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia.	Orphanet:90399	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019584	Orphanet:90399	ordo_clinical_subtype
MONDO:0019583	biolink:Disease	localized lichen myxedematosus with mixed features of different subtypes	Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus, characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM.	Orphanet:90398	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019583	Orphanet:90398	ordo_clinical_subtype
MONDO:0019586	biolink:Disease	X-linked nonsyndromic hearing loss	X-linked form of nonsyndromic deafness.	DOID:0050566|Orphanet:90625|UMLS:CN206422	mondo.json	X-linked isolated neurosensory deafness type DFN|X-linked isolated sensorineural deafness type DFN|X-linked non-syndromic neurosensory deafness type DFN|X-linked nonsyndromic genetic deafness|nonsyndromic genetic deafness, X-linked|X-linked non-syndromic sensorineural hearing loss type DFN|X-linked isolated sensorineural hearing loss type DFN|X-linked isolated neurosensory hearing loss type DFN|X-linked non-syndromic neurosensory hearing loss type DFN|X-linked deafness|X-linked nonsyndromic deafness|nonsyndromic deafness, X-linked|X-linked non-syndromic sensorineural deafness type DFN	http://purl.obolibrary.org/obo/MONDO_0019586	Orphanet:90625|DOID:0050566|UMLS:CN206422	clingen|gard_rare
MONDO:0019585	biolink:Disease	scleromyxedema without monoclonal gammopathy	Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus, characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent.	Orphanet:90400	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019585	Orphanet:90400	ordo_clinical_subtype
MONDO:0007629	biolink:Disease	fragile site 10Q23		OMIM:136540|UMLS:C1850987	mondo.json	fragile site type 10Q23|fragile site 10Q23	http://purl.obolibrary.org/obo/MONDO_0007629	https://omim.org/entry/136540|UMLS:C1850987	
MONDO:0007627	biolink:Disease	focal facial dermal dysplasia type I	Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia.	Orphanet:79133|GARD:0008416|UMLS:CN776929|OMIM:136500	mondo.json	focal facial dermal dysplasia type 1|hereditary symmetrical aplastic nevi of temples|bitemporal aplasia cutis congenita|FFDD type I|FFDD, type 1|Brauer syndrome|focal facial dermal dysplasia 1, Brauer type|FFDD1	http://purl.obolibrary.org/obo/MONDO_0007627	Orphanet:79133|UMLS:CN776929|https://omim.org/entry/136500	ordo_clinical_subtype
MONDO:0007628	biolink:Disease	foveal hypoplasia 1	Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene.	UMLS:C3805604|GARD:0000406|OMIM:136520|Orphanet:2253	mondo.json	PAX6 foveal hypoplasia|foveal hypoplasia, presenile cataract|foveal hypoplasia 1|foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract|O Donnell Pappas syndrome|foveal hypoplasia type 1|foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts|foveal hypoplasia caused by mutation in PAX6|FVH1	http://purl.obolibrary.org/obo/MONDO_0007628	https://omim.org/entry/136520|UMLS:C3805604	
MONDO:0007625	biolink:Disease	focal epithelial hyperplasia of the oral mucosa		UMLS:C1851009|MESH:C565008|OMIM:136400	mondo.json	focal epithelial hyperplasia of the oral mucosa	http://purl.obolibrary.org/obo/MONDO_0007625	UMLS:C1851009|https://omim.org/entry/136400|http://identifiers.org/mesh/C565008	
MONDO:0007626	biolink:Disease	familial congenital palsy of trochlear nerve	An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome.	UMLS:C1850996|OMIM:136480|MESH:C565007|Orphanet:91498|GARD:0010355	mondo.json	strabismus from Superior oblique palsy|hereditary fourth cranial nerve palsy|trochlear nerve palsy, familial congenital|fourth cranial nerve palsy, familial congenital|superior oblique oculomotor palsy, familial congenital	http://purl.obolibrary.org/obo/MONDO_0007626	https://omim.org/entry/136480|Orphanet:91498|UMLS:C1850996|http://identifiers.org/mesh/C565007	ordo_disease|gard_rare
MONDO:0007623	biolink:Disease	flushing of ears and somnolence		UMLS:C1851055|OMIM:136200	mondo.json	flushing of ears and somnolence	http://purl.obolibrary.org/obo/MONDO_0007623	UMLS:C1851055|https://omim.org/entry/136200	
MONDO:0007624	biolink:Disease	Flynn-Aird syndrome	Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne.	SCTID:239056006|UMLS:C0343108|MESH:C537066|Orphanet:2047|OMIM:136300|GARD:0002347	mondo.json	Flynn-Aird syndrome|cataracts, retinitis pigmentosa, sensorineural hearing loss, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy, chronic ulceration, dental|Flynn Aird syndrome	http://purl.obolibrary.org/obo/MONDO_0007624	Orphanet:2047|https://omim.org/entry/136300|http://identifiers.org/mesh/C537066|UMLS:C0343108|http://identifiers.org/snomedct/239056006	ordo_disease|gard_rare
MONDO:0007621	biolink:Disease	floating-Harbor syndrome	Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.	OMIM:136140|UMLS:C0729582|DOID:0111358|GARD:0006455|Orphanet:2044|ICD9:759.89|MESH:C537062|SCTID:312214005	mondo.json	Pelletier-Leisti syndrome|floating-HARBOR syndrome|short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes|floating-Harbor syndrome|FHS|FLHS	http://purl.obolibrary.org/obo/MONDO_0007621	http://identifiers.org/snomedct/312214005|https://omim.org/entry/136140|Orphanet:2044|http://identifiers.org/mesh/C537062|DOID:0111358|UMLS:C0729582	gard_rare|ordo_malformation_syndrome
NCBITaxon:81852	biolink:OrganismalEntity	Enterococcaceae		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_81852		
MONDO:0007622	biolink:Disease	obsolete flood factor deficiency		MESH:C565009|UMLS:C1851056|OMIM:136150	mondo.json	flood factor deficiency	http://purl.obolibrary.org/obo/MONDO_0007622	UMLS:C1851056|https://omim.org/entry/136150|http://identifiers.org/mesh/C565009	
HP:0004319	biolink:PhenotypicFeature	Decreased circulating aldosterone level	Abnormally reduced levels of aldosterone.	SNOMEDCT_US:60086000|UMLS:C0020595|MSH:D006994|UMLS:C0857899|UMLS:C1846226	mondo.json	Mineralocorticoid insufficiency|Decreased aldosterone production|Decreased serum aldosterone|Low blood aldosterone level|Hypoaldosteronism|Decreased aldosterone	http://purl.obolibrary.org/obo/HP_0004319		
MONDO:0007620	biolink:Disease	fish eye disease	Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.	GARD:0006450|SCTID:238092004|OMIM:136120|Orphanet:79292|UMLS:C0342895	mondo.json	alpha-LCAT deficiency|fed|alpha-lecithin:cholesterol acyltransferase deficiency|alpha-lecithin cholesterol acyltransferase deficiency|fish-eye disease|fish eye disease|LCATA deficiency|dyslipoproteinemic corneal dystrophy|partial LCAT deficiency	http://purl.obolibrary.org/obo/MONDO_0007620	http://identifiers.org/snomedct/238092004|https://omim.org/entry/136120|Orphanet:79292|UMLS:C0342895	gard_rare|ordo_clinical_subtype
CHR:9606-chr16p1	biolink:NamedThing	16p1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr16p1		
MONDO:0019618	biolink:Disease	Sheehan syndrome	An uncommon cause of hypopituitarism seen after severe postpartum hemorrhaging. Prolonged hypovolemia leads to ischemic necrosis of the pituitary. Clinical signs typically present in the puerperium and include failure to begin lactation, fatigue, hypotension and eventual amenorrhea. Clinical course is usually mild, however extreme cases may progress to adrenal failure. Prognosis is most favorable when hormone replacement is initiated soon after symptom onset.	MedDRA:10036297|ICD10CM:E23.0|SCTID:290653008|GARD:0007630|DOID:9476|MESH:D007018|SCTID:32390006|Orphanet:91355|NCIT:C35300|UMLS:C0242342	mondo.json	Sheehan's syndrome|postpartum hypopituitarism|postpartum pituitary necrosis|postpartum panhypopituitary syndrome|postpartum panhypopituitarism	http://purl.obolibrary.org/obo/MONDO_0019618	DOID:9476|http://identifiers.org/snomedct/290653008|UMLS:C0242342|Orphanet:91355|NCIT:C35300	ordo_malformation_syndrome
UBERON:0004264	biolink:AnatomicalEntity	lower leg skin			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004264		
MONDO:0019617	biolink:Disease	pituitary deficiency due to empty sella turcica syndrome		ICD10CM:E23.0|SCTID:715668008|UMLS:C4275064|Orphanet:91354|UMLS:CN206468	mondo.json	hypopituitarism due to empty sella turcica syndrome	http://purl.obolibrary.org/obo/MONDO_0019617	UMLS:CN206468|http://identifiers.org/snomedct/715668008|UMLS:C4275064|Orphanet:91354	ordo_disease
HP:0004313	biolink:PhenotypicFeature	Decreased circulating antibody level	An abnormally decreased level of immunoglobulin in blood.	MSH:D000361|SNOMEDCT_US:119250001|UMLS:C4048270|UMLS:C0086438	mondo.json	Decreased immunoglobulin level|Decreased antibody level in blood|Reduced immunoglobulin levels|Hypogammaglobulinemia|Immunoglobulin deficiency|Decreased serum immunoglobulin	http://purl.obolibrary.org/obo/HP_0004313		
UBERON:0004265	biolink:AnatomicalEntity	outflow tract myocardium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004265		
UBERON:0004262	biolink:AnatomicalEntity	upper leg skin			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004262		
MONDO:0019619	biolink:Disease	duplication of the esophagus		Orphanet:91357	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019619	Orphanet:91357	ordo_group_of_disorders|disease_grouping
CHR:9606-chr12p12	biolink:NamedThing	12p12 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr12p12		
UBERON:0004263	biolink:AnatomicalEntity	upper arm skin			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004263		
MONDO:0019614	biolink:Disease	pituitary deficiency due to Rathke's pouch cysts		ICD10CM:E23.0|Orphanet:91350	mondo.json	pituitary deficiency due to Rathke's cleft cysts	http://purl.obolibrary.org/obo/MONDO_0019614	Orphanet:91350	ordo_disease
UBERON:0004260	biolink:AnatomicalEntity	upper arm blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004260		
MONDO:0019613	biolink:Disease	non-functioning pituitary adenoma	A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome.	ICD10CM:D35.2|SCTID:254962005|Orphanet:91349|DOID:5715|EFO:0008516|NCIT:C4348	mondo.json	non-functioning pituitary gland adenoma|functionless adenoma of the pituitary gland|non-functioning pituitary adenoma|functionless adenoma of pituitary gland|functionless adenoma of the pituitary|functionless adenoma of pituitary|non-secretory pituitary gland adenoma|silent pituitary gland adenoma|non-secretory adenoma of the pituitary gland|non-secretory pituitary adenoma|non-secretory adenoma of pituitary gland|non-secretory adenoma of the pituitary|non-secretory adenoma of pituitary|functionless pituitary gland adenoma|nonfunctional pituitary gland adenoma|non-functioning adenoma of the pituitary gland|functionless pituitary adenoma|non-functioning adenoma of pituitary gland|non-functioning adenoma of the pituitary|NFPA|non-functioning adenoma of pituitary	http://purl.obolibrary.org/obo/MONDO_0019613	NCIT:C4348|http://identifiers.org/snomedct/254962005|Orphanet:91349|DOID:5715	ordo_disease
UBERON:0004261	biolink:AnatomicalEntity	lower leg blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004261		
MONDO:0019616	biolink:Disease	obsolete germinoma of the central nervous system			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019616		
MONDO:0019615	biolink:Disease	pituitary dermoid and epidermoid cysts		Orphanet:91351	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019615	Orphanet:91351	ordo_disease
MONDO:0019610	biolink:Disease	Zollinger-Ellison syndrome	Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion.	HP:0002044|GARD:0007918|NCIT:C3453|UMLS:C0043515|MESH:D015408|ICD10CM:C25.4|SCTID:302824004|MESH:D015043|DOID:0050782|Orphanet:913|EFO:0007549|MedDRA:10017852|SCTID:53132006	mondo.json	Z-E syndrome|pancreatic ulcerogenic tumor syndrome|Zollinger-Ellison syndrome (disease)|ZES|Z E syndrome|Zollinger Ellison syndrome|Zollinger-Ellison syndrome|gastrinoma	http://purl.obolibrary.org/obo/MONDO_0019610	http://identifiers.org/mesh/D015043|NCIT:C3453|http://identifiers.org/snomedct/53132006|UMLS:C0043515|DOID:0050782|Orphanet:913	ordo_disease
HGNC:2678	biolink:NamedThing	DARS1			mondo.json		http://identifiers.org/hgnc/2678		
MONDO:0019612	biolink:Disease	functioning gonadotropic adenoma	Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children).	ICD10CM:D35.2|Orphanet:91348|UMLS:C0346304|SCTID:254960002	mondo.json	gonadotroph adenoma|functioning pituitary gonadotropic adenoma	http://purl.obolibrary.org/obo/MONDO_0019612	UMLS:C0346304|http://identifiers.org/snomedct/254960002|Orphanet:91348	ordo_disease
MONDO:0019611	biolink:Disease	TSH-secreting pituitary adenoma	A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism.	NCIT:C8011|ICD10CM:D35.2|Orphanet:91347|UMLS:C0346303	mondo.json	TSH secreting adenoma of pituitary gland|TSHoma|TSH secreting adenoma of the pituitary|thyroid stimulating hormone-secreting pituitary adenoma|thyrotrophic adenoma|TSH secreting adenoma of pituitary|TSH secreting pituitary gland adenoma|thyroid stimulating hormone producing adenoma of the pituitary gland|TSH-oma|TSH secreting pituitary adenoma|TSH-producing pituitary gland adenoma|thyroid stimulating hormone producing adenoma of pituitary gland|thyroid stimulating hormone producing adenoma of the pituitary|thyroid stimulating hormone producing adenoma of pituitary|thyroid stimulating hormone secreting pituitary gland adenoma|TSH producing pituitary gland adenoma|TSH producing adenoma of the pituitary gland|TSH-producing adenoma|thyroid stimulating hormone secreting pituitary adenoma|TSH producing pituitary adenoma|thyroid stimulating hormone secreting adenoma of the pituitary gland|thyrotroph adenoma|TSH producing adenoma of pituitary gland|thyrotropin producing pituitary gland adenoma|thyroid stimulating hormone secreting adenoma of pituitary gland|TSH producing adenoma of the pituitary|thyroid stimulating hormone secreting adenoma of the pituitary|thyroid stimulating hormone secreting adenoma of pituitary|thyroid stimulating hormone producing pituitary gland adenoma|thyrotropinoma|TSH producing adenoma of pituitary|pituitary thyrotrophic adenoma|thyrotrope adenoma|thyroid stimulating hormone producing pituitary adenoma|TSH secreting adenoma of the pituitary gland|thyroid stimulating hormone-producing adenoma	http://purl.obolibrary.org/obo/MONDO_0019611	UMLS:C0346303|Orphanet:91347|NCIT:C8011	ordo_disease
UBERON:0004268	biolink:AnatomicalEntity	lower arm connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004268		
UBERON:0004269	biolink:AnatomicalEntity	upper arm connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004269		
UBERON:0004266	biolink:AnatomicalEntity	upper leg connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004266		
HGNC:2671	biolink:NamedThing	DAO			mondo.json		http://identifiers.org/hgnc/2671		
UBERON:0004267	biolink:AnatomicalEntity	back connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004267		
MONDO:0007638	biolink:Disease	fucosidase regulator		OMIM:136830	mondo.json	fucosidase regulator|Alpha-L-fucosidase regulator	http://purl.obolibrary.org/obo/MONDO_0007638	https://omim.org/entry/136830	
MONDO:0007639	biolink:Disease	fundus albipunctatus	Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.	DOID:11105|ICD9:362.76|MESH:C562733|Orphanet:227796|ICD10CM:H35.5|SCTID:68222009|ICD9:362.74|OMIM:136880	mondo.json	pigmentary retinal dystrophy|fundus albipunctatus|retinitis punctata albescens	http://purl.obolibrary.org/obo/MONDO_0007639	DOID:11105|http://identifiers.org/snomedct/68222009|http://identifiers.org/mesh/C562733|Orphanet:227796|https://omim.org/entry/136880	ordo_disease
MONDO:0007636	biolink:Disease	frontorhiny	Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.	NCIT:C129028|GARD:0012642|OMIM:136760|Orphanet:391474	mondo.json	FND1|isolated median cleft face syndrome|ALX3-related frontonasal dysplasia|frontorhiny|frontonasal dysplasia type 1|frontonasal dysplasia|isolated median cleft syndrome|median Facial cleft syndrome|frontonasal dysplasia 1|frontonasal malformation	http://purl.obolibrary.org/obo/MONDO_0007636	NCIT:C129028|https://omim.org/entry/136760|Orphanet:391474	ordo_malformation_syndrome
MONDO:0007637	biolink:Disease	corneal dystrophy, Fuchs endothelial, 1	Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.	OMIM:136800|MESH:C535478|UMLS:C1850959	mondo.json	corneal dystrophy, Fuchs endothelial, early-onset|Fuchs' endothelial dystrophy caused by mutation in COL8A2|corneal dystrophy, Fuchs endothelial, 1|corneal dystrophy, Fuchs endothelial, type 1|FECD1|COL8A2 Fuchs' endothelial dystrophy	http://purl.obolibrary.org/obo/MONDO_0007637	UMLS:C1850959|https://omim.org/entry/136800|http://identifiers.org/mesh/C535478	
NCBITaxon:29263	biolink:OrganismalEntity	tick-borne encephalitis virus group		GC_ID:1	mondo.json	Tick-borne encephalitis viruses	http://purl.obolibrary.org/obo/NCBITaxon_29263		
MONDO:0007634	biolink:Disease	intellectual disability, FRA12A type		OMIM:136630|UMLS:C1969893|MESH:C566980	mondo.json	intellectual disability, FRA12A type|mental retardation, FRA12A type	http://purl.obolibrary.org/obo/MONDO_0007634	UMLS:C1969893|https://omim.org/entry/136630|http://identifiers.org/mesh/C566980	
MONDO:0007635	biolink:Disease	Frasier syndrome	Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma.	Orphanet:347|GARD:0002375|NCIT:C122805|ICD9:759.89|DOID:0050438|OMIM:136680|MESH:D052159|UMLS:C0950122|SCTID:445431000	mondo.json	Frasier syndrome|Frasier syndrome, autosomal dominant, somatic mutation	http://purl.obolibrary.org/obo/MONDO_0007635	http://identifiers.org/snomedct/445431000|https://omim.org/entry/136680|NCIT:C122805|UMLS:C0950122|Orphanet:347|DOID:0050438|http://identifiers.org/mesh/D052159	ordo_disease|gard_rare
MONDO:0007632	biolink:Disease	obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1)		OMIM:136580	mondo.json	fragile site, DISTAMYCIN A type, RARE, fra(16)(q22.1)|fragile site 16Q22|fragile site, Distamycin a type, rare, fra(16)(q22.1)|FRA16B	http://purl.obolibrary.org/obo/MONDO_0007632	https://omim.org/entry/136580	
CHEBI:33405	biolink:ChemicalSubstance	hydracid	A hydracid is a compound which contains hydrogen that is not bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons).		mondo.json	hydracids|hydracid	http://purl.obolibrary.org/obo/CHEBI_33405		
MONDO:0007633	biolink:Disease	Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness		MESH:C564999|UMLS:C1850982|OMIM:136600	mondo.json	Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness	http://purl.obolibrary.org/obo/MONDO_0007633	https://omim.org/entry/136600|UMLS:C1850982|http://identifiers.org/mesh/C564999	
MONDO:0007630	biolink:Disease	North Carolina macular dystrophy	North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.	GARD:0009179|MESH:C537835|UMLS:C0730294|SCTID:312925009|OMIM:136550|Orphanet:75327|ICD10CM:H35.5	mondo.json	North Carolina macular dystrophy|macular dystrophy 1, North Carolina type|retinal pigment epithelial dystrophy central|central retinal pigment epithelial dystrophy|foveal dystrophy, progressive, formerly|progressive foveal dystrophy|macular dystrophy, retinal, 1, NORTH Carolina type|MCDR1|foveal dystrophy, progressive|North Carolina macular dystrophy, retinal 1|central areolar pigment epithelial dystrophy|retinal pigment epithelial dystrophy, central|NCMD|foveal dystrophy progressive|CAPE dystrophy|caped|macular dystrophy retinal 1 North Carolina type	http://purl.obolibrary.org/obo/MONDO_0007630	UMLS:C0730294|Orphanet:75327|https://omim.org/entry/136550|http://identifiers.org/mesh/C537835|http://identifiers.org/snomedct/312925009	ordo_disease|gard_rare
NCBITaxon:42231	biolink:OrganismalEntity	Mansonella perstans		GC_ID:1	mondo.json	Dipetalonema perstans	http://purl.obolibrary.org/obo/NCBITaxon_42231		
CHR:9606-chr16q2	biolink:NamedThing	16q2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr16q2		
MONDO:0007631	biolink:Disease	chromosome 16p12.1 deletion syndrome, 520kb	A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects.	OMIM:136570|DECIPHER:92|NCIT:C129875|DOID:0060399|MESH:C565001	mondo.json	chromosome 16p12.1 deletion syndrome|Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus)|chromosome 16p12.1 deletion syndrome, type 520kb|fragile site, Distamycin a type, Rare, fra(16)(p12.1)|fragile site 16P12|chromosome 16p12.1 deletion syndrome, 520-KB	http://purl.obolibrary.org/obo/MONDO_0007631	https://omim.org/entry/136570|http://identifiers.org/mesh/C565001|NCIT:C129875|DOID:0060399	
NCBITaxon:42230	biolink:OrganismalEntity	Mansonella		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_42230		
CHEBI:33408	biolink:ChemicalSubstance	pnictogen oxoacid			mondo.json	pnictogen oxoacids	http://purl.obolibrary.org/obo/CHEBI_33408		
NCBITaxon:66225	biolink:OrganismalEntity	Phaeoannellomyces		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_66225		
HP:0004325	biolink:PhenotypicFeature	Decreased body weight	Abnormally low body weight.	UMLS:C1262477|UMLS:C1844806|MSH:D013851|SNOMEDCT_US:89362005|SNOMEDCT_US:262285001|MSH:D015431|SNOMEDCT_US:248342006|UMLS:C0041667|SNOMEDCT_US:161832001	mondo.json	Weight less than 3rd percentile|Low weight|Decreased weight|Decreased body weight|Low body weight	http://purl.obolibrary.org/obo/HP_0004325		
MONDO:0019607	biolink:Disease	unspecified juvenile idiopathic arthritis	Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes.	Orphanet:91140	mondo.json	unspecified JIA	http://purl.obolibrary.org/obo/MONDO_0019607	Orphanet:91140	ordo_disease
UBERON:0004253	biolink:AnatomicalEntity	skin muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004253		
HP:0004324	biolink:PhenotypicFeature	Increased body weight	Abnormally increased body weight.	SNOMEDCT_US:8943002|MSH:D015430|SNOMEDCT_US:161831008|SNOMEDCT_US:262286000|UMLS:C0043094	mondo.json	Increased body weight|Weight gain	http://purl.obolibrary.org/obo/HP_0004324		
MONDO:0019606	biolink:Disease	simple cryoglobulinemia	Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C.	SCTID:723674005|UMLS:C4510006|ICD10CM:D89.1|Orphanet:91139|UMLS:CN206459	mondo.json	cryoglobulinemia type 1	http://purl.obolibrary.org/obo/MONDO_0019606	UMLS:CN206459|http://identifiers.org/snomedct/723674005|UMLS:C4510006|Orphanet:91139	ordo_disease
UBERON:0004254	biolink:AnatomicalEntity	forelimb zeugopod muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004254		
HP:0004323	biolink:PhenotypicFeature	Abnormality of body weight	An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.	UMLS:C4025357|UMLS:C0878621	mondo.json	Abnormality of habitus|Abnormality of body weight	http://purl.obolibrary.org/obo/HP_0004323		
MONDO:0019609	biolink:Disease	Zellweger spectrum disorders	The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.	SCTID:88469006|NCIT:C85239|Orphanet:912|MESH:D015211|GARD:0007917|DOID:905|ICD10CM:E71.510|UMLS:C0043459	mondo.json	congenital iron overload|Zellweger spectrum disorders|Zellweger syndrome|cerebrohepatorenal syndrome|ZWS|ZS|Zellweger leukodystrophy	http://purl.obolibrary.org/obo/MONDO_0019609	http://identifiers.org/snomedct/88469006|DOID:905|Orphanet:912|NCIT:C85239|http://purl.bioontology.org/ontology/ICD10CM/E71.510|http://identifiers.org/mesh/D015211|UMLS:C0043459	ordo_disease
UBERON:0004251	biolink:AnatomicalEntity	hindlimb zeugopod bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004251		
MONDO:0019608	biolink:Disease	46,XX disorder of sex development induced by maternal-derived androgen		Orphanet:91144|UMLS:CN227662	mondo.json	46,XX DSD induced by maternal-derived androgen	http://purl.obolibrary.org/obo/MONDO_0019608	Orphanet:91144|UMLS:CN227662	disease_grouping|ordo_group_of_disorders
HP:0004322	biolink:PhenotypicFeature	Short stature	A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).	SNOMEDCT_US:237836003|UMLS:C0349588	mondo.json	Height less than 3rd percentile|Short stature|Stature below 3rd percentile|Decreased body height|Small stature	http://purl.obolibrary.org/obo/HP_0004322		
UBERON:0004252	biolink:AnatomicalEntity	hindlimb stylopod muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004252		
HP:0004329	biolink:PhenotypicFeature	Abnormal posterior eye segment morphology		UMLS:C4025354	mondo.json	Abnormality of the posterior segment of the globe|Abnormal morphology of the posterior segment of the globe|Abnormality of the posterior segment of the eye|Abnormality of the posterior segment of the eyeball	http://purl.obolibrary.org/obo/HP_0004329		
MONDO:0019603	biolink:Disease	osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome	Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterised by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked.	UMLS:CN206455|SCTID:722111004|Orphanet:91133	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019603	UMLS:CN206455|Orphanet:91133|http://identifiers.org/snomedct/722111004	ordo_malformation_syndrome
MONDO:0019602	biolink:Disease	obsolete other inborn metabolic disease		UMLS:CN206450|Orphanet:91088	mondo.json	other metabolic disease	http://purl.obolibrary.org/obo/MONDO_0019602	UMLS:CN206450|Orphanet:91088	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
HP:0004328	biolink:PhenotypicFeature	Abnormal anterior eye segment morphology	An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens).	UMLS:C4025355	mondo.json	Abnormality of the anterior segment of the eye|Abnormality of the anterior segment of the eyeball|Abnormality of the anterior segment of the globe|Abnormal anterior segment morphology	http://purl.obolibrary.org/obo/HP_0004328		
UBERON:0004250	biolink:AnatomicalEntity	upper arm bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004250		
CHEBI:33402	biolink:ChemicalSubstance	sulfur oxoacid			mondo.json	sulfur oxoacids|oxoacids of sulfur	http://purl.obolibrary.org/obo/CHEBI_33402		
MONDO:0019605	biolink:Disease	immunotactoid or fibrillary glomerulopathy	Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG.	Orphanet:91137|GARD:0012741	mondo.json	Immunotactoid or fibrillary glomerulonephritis|fibrillary glomerulonephritis and immunotactoid glomerulopathy	http://purl.obolibrary.org/obo/MONDO_0019605	Orphanet:91137	ordo_group_of_disorders|disease_grouping|gard_rare
HP:0004327	biolink:PhenotypicFeature	Abnormal vitreous humor morphology	Any structural anomaly of the vitreous body.	UMLS:C4025356	mondo.json	Abnormal vitreous humour morphology	http://purl.obolibrary.org/obo/HP_0004327		hposlim_core
HP:0004326	biolink:PhenotypicFeature	Cachexia	Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.	SNOMEDCT_US:238108007|SNOMEDCT_US:285384003|UMLS:C0006625|MSH:D002100	mondo.json	Wasting syndrome	http://purl.obolibrary.org/obo/HP_0004326		
MONDO:0019604	biolink:Disease	acquired monoclonal Ig light chain-associated Fanconi syndrome	A rare monoclonalgammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricaemia.	UMLS:CN206457|SCTID:724099000|UMLS:C4510369|Orphanet:91136	mondo.json	acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome|acquired Fanconi syndrome secondary to monoclonal gammopathy	http://purl.obolibrary.org/obo/MONDO_0019604	http://identifiers.org/snomedct/724099000|UMLS:CN206457|UMLS:C4510369|Orphanet:91136	ordo_disease
HGNC:2689	biolink:NamedThing	DBH			mondo.json		http://identifiers.org/hgnc/2689		
MONDO:0032600	biolink:Disease	Snijders Blok-Campeau syndrome		Orphanet:599082|OMIM:618205	mondo.json	SNIBCPS|SNIJDERS BLOK-CAMPEAU SYNDROME|intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies	http://purl.obolibrary.org/obo/MONDO_0032600	https://omim.org/entry/618205|Orphanet:599082	
MONDO:0019601	biolink:Disease	obsolete autosomal recessive axonal hereditary motor and sensory neuropathy	OBSOLETE. Autosomal recessive form of axonal hereditary motor and sensory neuropathy.	UMLS:CN206449|Orphanet:91024	mondo.json	autosomal recessive axonal Charcot-Marie-Tooth disease type 2|axonal hereditary motor and sensory neuropathy, autosomal recessive|AR-CMT2	http://purl.obolibrary.org/obo/MONDO_0019601	UMLS:CN206449|Orphanet:91024	ordo_group_of_disorders
UBERON:0004259	biolink:AnatomicalEntity	lower arm blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004259		
MONDO:0019600	biolink:Disease	xeroderma pigmentosum	Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV).	NCIT:C3452|MedDRA:10048220|UMLS:C0043346|MESH:D014983|Orphanet:910|ICD10CM:Q82.1|DOID:0050427|SCTID:44600005|GARD:0007910	mondo.json	xeroderma of Kaposi|angioma pigmentosum atrophicum|xeroderma pigmentosum syndrome|XP|Kaposi disease|atrophoderma pigmentosum|xeroderma pigmentosa|pigmented epitheliomatosis|melanosis lenticularis progressiva|Kaposi dermatosis	http://purl.obolibrary.org/obo/MONDO_0019600	http://purl.bioontology.org/ontology/ICD10CM/Q82.1|NCIT:C3452|http://identifiers.org/snomedct/44600005|UMLS:C0043346|http://identifiers.org/mesh/D014983|DOID:0050427|Orphanet:910	ordo_disease|gard_rare
UBERON:0004257	biolink:AnatomicalEntity	upper leg blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004257		
UBERON:0004258	biolink:AnatomicalEntity	back blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004258		
UBERON:0004255	biolink:AnatomicalEntity	forelimb stylopod muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004255		
UBERON:0004256	biolink:AnatomicalEntity	hindlimb zeugopod muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004256		
HGNC:2682	biolink:NamedThing	DAZ1			mondo.json		http://identifiers.org/hgnc/2682		
MONDO:0007607	biolink:Disease	Birt-Hogg-Dube syndrome	Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977.	NCIT:C28244|ICD9:704.8|DOID:0050676|OMIM:135150|UMLS:C0346010|GARD:0002322|EFO:1001273|SCTID:110985001|MedDRA:10067736|Orphanet:122|MESH:D058249	mondo.json	BHD|BHD syndrome|fibrofolliculomas with trichodiscomas and acrochordons|Birt-Hogg-Dubé syndrome|Hornstein-Knickenberg syndrome|Birt Hogg Dube syndrome|Birt-Hogg-Dube syndrome	http://purl.obolibrary.org/obo/MONDO_0007607	Orphanet:122|DOID:0050676|NCIT:C28244|http://identifiers.org/mesh/D058249|UMLS:C0346010|http://identifiers.org/snomedct/110985001|https://omim.org/entry/135150	ordo_malformation_syndrome
MONDO:0032607	biolink:Disease	vertebral anomalies and variable endocrine and T-cell dysfunction		DOID:0070345|OMIM:618223	mondo.json	VETD|VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	http://purl.obolibrary.org/obo/MONDO_0032607	https://omim.org/entry/618223|DOID:0070345	
MONDO:0007608	biolink:Disease	desmoid tumor	A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.	OMIM:135290|GARD:0001820|DOID:0080366|UMLS:C1851124|UMLS:C0079218|ICDO:8821/1|UMLS:CN072436|Orphanet:873|ONCOTREE:DES|NCIT:C9182	mondo.json	desmoid-type fibromatosis|desmoid tumor caused by somatic mutation|FIF|deep fibromatosis|fibromatosis, familial infiltrative|deep fibromatosis/desmoid tumor|desmoid fibromatosis|desmoid/aggressive fibromatosis|desmoid type fibromatosis|desmoid disease, hereditary|desmoid tumor|desmoid disorder, hereditary|familial infiltrative fibromatosis|aggressive fibromatosis	http://purl.obolibrary.org/obo/MONDO_0007608	NCIT:C9182|DOID:0080366|UMLS:C0079218|UMLS:CN072436|Orphanet:873|UMLS:C1851124|https://omim.org/entry/135290	
MONDO:0032608	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 3		OMIM:618224	mondo.json	MC1DN3|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3	http://purl.obolibrary.org/obo/MONDO_0032608	https://omim.org/entry/618224	
MONDO:0007605	biolink:Disease	fibrinolytic defect		UMLS:C1851184|OMIM:134900|MESH:C565017	mondo.json	fibrinolytic defect	http://purl.obolibrary.org/obo/MONDO_0007605	http://identifiers.org/mesh/C565017|https://omim.org/entry/134900|UMLS:C1851184	
MONDO:0032605	biolink:Disease	intellectual disability, autosomal recessive 66		OMIM:618221	mondo.json	intellectual developmental disorder, autosomal recessive 66|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66|MRT66	http://purl.obolibrary.org/obo/MONDO_0032605	https://omim.org/entry/618221	
MONDO:0007606	biolink:Disease	fibrodysplasia ossificans progressiva	Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.	GARD:0006445|ICD9:728.11|UMLS:C0016037|Orphanet:337|MedDRA:10068715|OMIM:135100|SCTID:82725007|NCIT:C3040|MESH:D009221|DOID:13374	mondo.json	fop|Stone man syndrome|myositis ossificans progressiva|progressive ossifying myositis|Stone Man syndrome|progressive myositis ossificans|fibrodysplasia ossificans progressiva	http://purl.obolibrary.org/obo/MONDO_0007606	Orphanet:337|http://identifiers.org/snomedct/82725007|DOID:13374|UMLS:C0016037|NCIT:C3040|https://omim.org/entry/135100	ordo_disease
MONDO:0032606	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 2		OMIM:618222	mondo.json	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2|MC1DN2	http://purl.obolibrary.org/obo/MONDO_0032606	https://omim.org/entry/618222	
MONDO:0007603	biolink:Disease	Felty syndrome	Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections.	SCTID:57160007|EFO:0007269|MESH:D005258|MedDRA:10016386|OMIM:134750|UMLS:C0015773|GARD:0008234|NCIT:C84712|DOID:11042|Orphanet:47612|ICD9:714.1	mondo.json	Felty syndrome|splenomegaly-neutropenia-rheumatoid arthritis syndrome|familial Felty's syndrome|rheumatoid arthritis with splenoadenomegaly and leukopenia|Felty's syndrome|rheumatoid arthritis, splenomegaly and neutropenia	http://purl.obolibrary.org/obo/MONDO_0007603	http://identifiers.org/snomedct/57160007|https://omim.org/entry/134750|DOID:11042|http://identifiers.org/mesh/D005258|NCIT:C84712|Orphanet:47612|UMLS:C0015773	ordo_disease|gard_rare
MONDO:0032603	biolink:Disease	polydactyly, postaxial, type A9		OMIM:618219	mondo.json	PAPA9|POLYDACTYLY, POSTAXIAL, TYPE A9	http://purl.obolibrary.org/obo/MONDO_0032603	https://omim.org/entry/618219	
MONDO:0032604	biolink:Disease	retinitis pigmentosa 84		OMIM:618220	mondo.json	RP84|RETINITIS PIGMENTOSA 84	http://purl.obolibrary.org/obo/MONDO_0032604	https://omim.org/entry/618220	
MONDO:0007604	biolink:Disease	femoral-facial syndrome	Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.	Orphanet:1988|OMIM:134780|SCTID:13280000|GARD:0000061|MESH:C537916|ICD9:759.89	mondo.json	femoral dysgenesis, bilateral|femoral hypoplasia-unusual facies syndrome|femoral-facial syndrome|FFS|FHUFS|femoral hypoplasia unusual facies syndrome|femoral facial syndrome	http://purl.obolibrary.org/obo/MONDO_0007604	http://identifiers.org/mesh/C537916|Orphanet:1988|https://omim.org/entry/134780|http://identifiers.org/snomedct/13280000	gard_rare|ordo_malformation_syndrome
MONDO:0007601	biolink:Disease	familial Mediterranean fever, autosomal dominant		MESH:C565021|UMLS:C1851347|OMIM:134610	mondo.json	Fmf, autosomal dominant|familial Mediterranean fever, autosomal dominant|familial Mediterranean fever, AD	http://purl.obolibrary.org/obo/MONDO_0007601	https://omim.org/entry/134610|UMLS:C1851347|http://identifiers.org/mesh/C565021	
MONDO:0032601	biolink:Disease	inflammatory bowel disease, immunodeficiency, and encephalopathy		Orphanet:565788|OMIM:618213	mondo.json	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY|IBDIMDE	http://purl.obolibrary.org/obo/MONDO_0032601	https://omim.org/entry/618213|Orphanet:565788	
MONDO:0007602	biolink:Disease	obsolete favism, susceptibility to		OMIM:134700	mondo.json	moved to {300908}|favism, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0007602	https://omim.org/entry/134700	predisposition
NCBITaxon:1930602	biolink:OrganismalEntity	Psocodea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1930602		
MONDO:0007600	biolink:Disease	primary Fanconi syndrome	A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.	GARD:0009118|NCIT:C123229	mondo.json	FRTS1|Fanconi renotubular syndrome 1|primary Fanconi renotubular syndrome	http://purl.obolibrary.org/obo/MONDO_0007600	NCIT:C123229	gard_rare|ordo_disease
MONDO:0032609	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 4		OMIM:618225	mondo.json	MC1DN4|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	http://purl.obolibrary.org/obo/MONDO_0032609	https://omim.org/entry/618225	
UBERON:0004242	biolink:AnatomicalEntity	bronchus smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004242		
UBERON:0004243	biolink:AnatomicalEntity	prostate gland smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004243		
UBERON:0004240	biolink:AnatomicalEntity	gall bladder smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004240		
UBERON:0004241	biolink:AnatomicalEntity	main bronchus smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004241		
MONDO:0032610	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 5		OMIM:618226	mondo.json	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5|MC1DN5	http://purl.obolibrary.org/obo/MONDO_0032610	https://omim.org/entry/618226	
MONDO:0032611	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 6		OMIM:618228	mondo.json	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6|MC1DN6	http://purl.obolibrary.org/obo/MONDO_0032611	https://omim.org/entry/618228	
HGNC:2699	biolink:NamedThing	DDX3Y			mondo.json		http://identifiers.org/hgnc/2699		
UBERON:0004248	biolink:AnatomicalEntity	pedal digit bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004248		
HGNC:2698	biolink:NamedThing	DBT			mondo.json		http://identifiers.org/hgnc/2698		
UBERON:0004249	biolink:AnatomicalEntity	manual digit bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004249		
UBERON:0004246	biolink:AnatomicalEntity	outflow tract smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004246		
UBERON:0004247	biolink:AnatomicalEntity	bone of dorsum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004247		
UBERON:0004245	biolink:AnatomicalEntity	oviduct smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004245		
MONDO:0007618	biolink:Disease	Eng-Strom syndrome	Eng-Strom syndrome is characterised by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant.	Orphanet:1937|OMIM:135950|UMLS:C2931545	mondo.json	short stature-locking fingers syndrome|finger locking, recurrent, with intrauterine growth retardation and proportionate short stature	http://purl.obolibrary.org/obo/MONDO_0007618	https://omim.org/entry/135950|Orphanet:1937|UMLS:C2931545	ordo_malformation_syndrome
MONDO:0032618	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 13		OMIM:618235	mondo.json	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13|MC1DN13	http://purl.obolibrary.org/obo/MONDO_0032618	https://omim.org/entry/618235	
MONDO:0007619	biolink:Disease	isolated congenital adermatoglyphia	Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.	Orphanet:289465|SCTID:763748007|OMIM:136000|GARD:0012550|MESH:C565010|DOID:0111357	mondo.json	fingerprints, absence of|ADERM|adermatoglyphia|absence of fingerprints|immigration delay disease|ADG|isolated congenital adermatoglyphia|congenital absence of fingerprints	http://purl.obolibrary.org/obo/MONDO_0007619	http://identifiers.org/mesh/C565010|DOID:0111357|Orphanet:289465|http://identifiers.org/snomedct/763748007|https://omim.org/entry/136000	ordo_disease
MONDO:0032619	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 14		OMIM:618236	mondo.json	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14|MC1DN14	http://purl.obolibrary.org/obo/MONDO_0032619	https://omim.org/entry/618236	
MONDO:0007616	biolink:Disease	fibula, recurrent dislocation of head of		UMLS:C1851099|MESH:C565011|OMIM:135800	mondo.json	fibula, recurrent dislocation of head of	http://purl.obolibrary.org/obo/MONDO_0007616	UMLS:C1851099|http://identifiers.org/mesh/C565011|https://omim.org/entry/135800	
MONDO:0032616	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 10		OMIM:618233	mondo.json	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10|MC1DN10	http://purl.obolibrary.org/obo/MONDO_0032616	https://omim.org/entry/618233	
MONDO:0007617	biolink:Disease	Coffin-Siris syndrome 1	Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene.	UMLS:CN029606|GARD:0009945|OMIM:609943|UMLS:C3281201|DOID:0070042|OMIM:614562|OMIM:135900|UMLS:C1864967|MESH:C538391	mondo.json	fifth digit syndrome|MRD12|hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features|COFFIN-SIRIS syndrome 1|hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features|ARID1B-related BAFopathy|mental retardation, autosomal dominant type 12|intellectual disability, autosomal dominant 12|Coffin-Siris syndrome 1|autosomal dominant mental retardation 12|CSS1|CSS|mental retardation, autosomal dominant 12|COFFIN-SIRIS syndrome	http://purl.obolibrary.org/obo/MONDO_0007617	https://omim.org/entry/135900|UMLS:C3281201|https://omim.org/entry/614562|DOID:0070042|https://omim.org/entry/609943|http://identifiers.org/mesh/C538391|UMLS:CN029606	gard_rare
MONDO:0032617	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 11		OMIM:618234	mondo.json	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11|MC1DN11	http://purl.obolibrary.org/obo/MONDO_0032617	https://omim.org/entry/618234	
MONDO:0007614	biolink:Disease	congenital fibrosis of extraocular muscles		DOID:0080143|SCTID:400946004|ICD9:728.2|GARD:0012590|UMLS:CN043677|OMIMPS:135700|UMLS:C1302995|Orphanet:45358	mondo.json	CFEOM1|fibrosis of extraocular muscles, congenital, 1|FEOM|ophthalmoplegia, congenital|blepharoptosis with absent eye movements|fibrosis of extraocular muscles, congenital|fibrosis of extraocular muscles, congenital, type 1|Feom1 locus|Tukel syndrome|congenital fibrosis of the extraocular muscles|fibrosis of extraocular muscles, congenital, 3B	http://purl.obolibrary.org/obo/MONDO_0007614	UMLS:C1302995|UMLS:CN043677|Orphanet:45358|DOID:0080143|http://identifiers.org/snomedct/400946004|https://omim.org/phenotypicSeries/PS135700	ordo_disease|prototype_pattern
MONDO:0032614	biolink:Disease	epidermodysplasia verruciformis, susceptibility to, 2		OMIM:618231	mondo.json	EV2|epidermodysplasia verruciformis 2|EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2	http://purl.obolibrary.org/obo/MONDO_0032614	https://omim.org/entry/618231	
MONDO:0032615	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 9		OMIM:618232	mondo.json	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9|MC1DN9	http://purl.obolibrary.org/obo/MONDO_0032615	https://omim.org/entry/618232	
MONDO:0007615	biolink:Disease	laurin-Sandrow syndrome	Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.	GARD:0000155|SCTID:715440003|Orphanet:2378|DOID:0111350|OMIM:135750|MESH:C535689	mondo.json	mirror hands and feets-nasal defects syndrome|laurin-Sandrow syndrome, segmental|mirror-Image polydactyly|laurin Sandrow syndrome|Sandrow syndrome|fibula ulna duplication tibia radius absence|laurin-Sandrow syndrome|mirror hands and feet with nasal defects|LSS|tetramelic mirror-Image polydactyly|fibula and ulna, Duplication of, with absence of tibia and radius	http://purl.obolibrary.org/obo/MONDO_0007615	http://identifiers.org/snomedct/715440003|DOID:0111350|http://identifiers.org/mesh/C535689|Orphanet:2378|https://omim.org/entry/135750	ordo_malformation_syndrome|gard_rare
MONDO:0007612	biolink:Disease	gingival fibromatosis-progressive deafness syndrome	Gingival fibromatosis-progressive deafness syndrome is characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait.	Orphanet:2027|GARD:0003056|UMLS:C1851112|SCTID:722449007|MESH:C535886|OMIM:135550	mondo.json	GFD|gingival fibromatosis with progressive deafness|fibromatosis, gingival, with progressive deafness|Jones syndrome|gingival fibromatosis with sensorineural hearing loss|familial gingival fibromatosis associated with progressive deafness	http://purl.obolibrary.org/obo/MONDO_0007612	http://identifiers.org/mesh/C535886|UMLS:C1851112|Orphanet:2027|https://omim.org/entry/135550|http://identifiers.org/snomedct/722449007	ordo_malformation_syndrome
MONDO:0032612	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 7		OMIM:618229	mondo.json	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7|MC1DN7	http://purl.obolibrary.org/obo/MONDO_0032612	https://omim.org/entry/618229	
MONDO:0032613	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 8		OMIM:618230	mondo.json	MC1DN8|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8	http://purl.obolibrary.org/obo/MONDO_0032613	https://omim.org/entry/618230	
MONDO:0007613	biolink:Disease	obsolete fibromuscular dysplasia of arteries			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007613		
MONDO:0007610	biolink:Disease	gingival fibromatosis-hypertrichosis syndrome	Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.	Orphanet:2026|OMIM:135400|SCTID:716008002|MESH:C565016|GARD:0002324	mondo.json	congenital generalized hypertrichosis terminalis|hereditary gingival fibromatosis with hypertrichosis|chromosome 17Q24.2-q24.3 deletion syndrome|hypertrichosis with or without gingival hyperplasia|hypertrichosis, congenital generalized, with gingival hyperplasia|hypertrichosis terminalis, generalized, with or without gingival hyperplasia|hirsutism-congenital gingival hyperplasia syndrome|microdeletion 17Q24.2-q24.3 syndrome|HTC3|hypertrichosis, congenital generalized, with or without gingival hyperplasia|hypertrichosis terminalis, generalized, with gingival hyperplasia|fibromatosis, gingival, with hypertrichosis|chromosome 17Q24.2-q24.3 Duplication syndrome|gingival fibromatosis with hypertrichosis|extreme hirsutism with gingival fibromatosis|microduplication 17Q24.2-q24.3 syndrome|CGHT	http://purl.obolibrary.org/obo/MONDO_0007610	http://identifiers.org/snomedct/716008002|Orphanet:2026|https://omim.org/entry/135400|http://identifiers.org/mesh/C565016	ordo_malformation_syndrome|gard_rare
MONDO:0007611	biolink:Disease	obsolete Zimmermann-Laband syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007611		
HP:0004308	biolink:PhenotypicFeature	Ventricular arrhythmia		UMLS:C0085612|SNOMEDCT_US:44103008	mondo.json	Ventricular arrhythmias	http://purl.obolibrary.org/obo/HP_0004308		
HP:0004303	biolink:PhenotypicFeature	Abnormal muscle fiber morphology	Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.	UMLS:C4021663	mondo.json	Abnormal muscle fibre morphology|Abnormality of muscle fibres|Abnormal skeletal muscle fiber morphology|Abnormal skeletal muscle fibre morphology|Abnormality of muscle fibers	http://purl.obolibrary.org/obo/HP_0004303		
UBERON:0004231	biolink:AnatomicalEntity	anal region smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004231		
UBERON:0004232	biolink:AnatomicalEntity	lymphatic vessel smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004232		
UBERON:0004230	biolink:AnatomicalEntity	urinary bladder neck smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004230		
HP:0004307	biolink:PhenotypicFeature	Abnormal anatomic location of the heart	Developmental defect characterized by an anomalous anatomic location of the heart.	UMLS:C4025359	mondo.json		http://purl.obolibrary.org/obo/HP_0004307		
HP:0004306	biolink:PhenotypicFeature	Abnormal endocardium morphology	An abnormality of the endocardium.	UMLS:C4021662	mondo.json	Abnormality of the endocardium|Abnormality of the endomycoardium	http://purl.obolibrary.org/obo/HP_0004306		
HP:0004305	biolink:PhenotypicFeature	Involuntary movements	Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.	UMLS:C0235086|SNOMEDCT_US:102542000	mondo.json	Involuntary muscle contractions|Involuntary movements	http://purl.obolibrary.org/obo/HP_0004305		
MONDO:0032621	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 16		OMIM:618238	mondo.json	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16|MC1DN16	http://purl.obolibrary.org/obo/MONDO_0032621	https://omim.org/entry/618238	
UBERON:0004239	biolink:AnatomicalEntity	small intestine smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004239		
MONDO:0032622	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 17		OMIM:618239	mondo.json	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17|MC1DN17	http://purl.obolibrary.org/obo/MONDO_0032622	https://omim.org/entry/618239	
UBERON:0004237	biolink:AnatomicalEntity	blood vessel smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004237		
MONDO:0032620	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 15		OMIM:618237	mondo.json	MC1DN15|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15	http://purl.obolibrary.org/obo/MONDO_0032620	https://omim.org/entry/618237	
UBERON:0004238	biolink:AnatomicalEntity	spleen smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004238		
UBERON:0004235	biolink:AnatomicalEntity	mammary gland smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004235		
UBERON:0004236	biolink:AnatomicalEntity	arteriole smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004236		
MONDO:0007609	biolink:Disease	fibromatosis, gingival, 1	Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene.	OMIM:135300|UMLS:CN030594|GARD:0006509	mondo.json	gingival fibromatosis caused by mutation in SOS1|fibromatosis gingival, hereditary, 1|gingival fibromatosis, 1|GINGF1|SOS1 hereditary gingival fibromatosis|fibromatosis, gingival, hereditary|hereditary gingival fibromatosis caused by mutation in SOS1|SOS1 gingival fibromatosis|hereditary gingival fibromatosis, 1|fibromatosis, gingival, 1|HGF1|GGF1|GINGF|fibromatosis, gingival, type 1	http://purl.obolibrary.org/obo/MONDO_0007609	https://omim.org/entry/135300|UMLS:CN030594	gard_rare
UBERON:0004233	biolink:AnatomicalEntity	lower respiratory tract smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004233		
UBERON:0004234	biolink:AnatomicalEntity	iris smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004234		
MONDO:0005009	biolink:Disease	congestive heart failure	Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.	ICD9:404.13|ICD9:404.01|ICD9:404.11|NCIT:C3080|SCTID:42343007|ICD9:428|ICD9:428.0|UMLS:C0018802|ICD9:428.9|EFO:0000373|DOID:6000	mondo.json	CHF|weak heart|failure, congestive heart|heart failure, congestive|congestive heart disease|cardiac failure, congestive	http://purl.obolibrary.org/obo/MONDO_0005009	UMLS:C0018802|NCIT:C3080|DOID:6000|http://identifiers.org/snomedct/42343007	
MONDO:0005006	biolink:Disease	clear cell sarcoma of kidney	A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue.	NCIT:C4264|ICDO:8964/3|UMLS:C0334488|ONCOTREE:CCSK|UMLS:CN242113|EFO:0000350|DOID:4880|Orphanet:457246	mondo.json	childhood renal clear cell sarcoma|clear cell sarcoma of kidney|CCSK|clear cell sarcoma - kidney|childhood clear cell sarcoma of the kidney|kidney clear cell sarcoma|pediatric renal clear cell sarcoma|childhood kidney clear cell sarcoma|clear cell sarcoma of the kidney|renal clear cell sarcoma|pediatric kidney clear cell sarcoma	http://purl.obolibrary.org/obo/MONDO_0005006	UMLS:C0334488|UMLS:CN242113|DOID:4880|Orphanet:457246|NCIT:C4264	ordo_disease
MONDO:0007669	biolink:Disease	renal cysts and diabetes syndrome	Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.	UMLS:C0431693|DOID:0111101|SCTID:446641003|Orphanet:93111|OMIM:137920|GARD:0010221|UMLS:CN206512|MESH:C535520|DECIPHER:47|NCIT:C123018	mondo.json	RCAD|congenital anomalies of the kidney and urinary tract with diabetes|renal dysfunction-early-onset diabetes syndrome|HNF1B-related renal cysts and diabetes syndrome|hyperuricemic nephropathy, familial juvenile, atypical|HNF1B-MODY|MODY type 5|FJHN, atypical|hepatocyte nuclear Factor 1-beta-associated monogenic diabetes|atypical FJHN|atypical familial juvenile hyperuricemic nephropathy|glomerulocystic kidney disease, hypoplastic type|renal cysts-maturity-onset diabetes of the young syndrome|FJHN atypical|CAKUT with diabetes|MODY5|maturity-onset diabetes of the young type 5|RCAD syndrome|maturity-onset diabetes of the Young, type 5|hypoplastic type glomerulocystic kidney disease|renal cysts and diabetes syndrome|glomerulocystic kidney, familial hypoplastic|familial hypoplastic glomerulocystic kidney|maturity onset diabetes of the Young, type 5	http://purl.obolibrary.org/obo/MONDO_0007669	https://omim.org/entry/137920|http://identifiers.org/snomedct/446641003|DOID:0111101|http://identifiers.org/mesh/C535520|UMLS:CN206512|UMLS:C0431693|Orphanet:93111|NCIT:C123018	ordo_disease|gard_rare
MONDO:0005005	biolink:Disease	clear cell renal carcinoma	A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common.	EFO:0000349|GARD:0009574|Orphanet:319276|SCTID:254915003|ICD9:189.0|NCIT:C4033|DOID:4467|ONCOTREE:CCRCC	mondo.json	kidney clear cell adenocarcinoma|clear cell carcinoma of kidney|clear cell renal cell cancer|clear cell carcinoma of the kidney|renal cell carcinoma, clear cell adenocarcinoma|kidney clear cell carcinoma|clear-cell metastatic renal cell carcinoma|clear cell adenocarcinoma, kidney|clear cell kidney carcinoma|clear cell renal cell carcinoma|conventional (clear cell) renal cell carcinoma|Grawitz tumor|RCC, clear cell adenocarcinoma|conventional (clear cell) renal cell adenocarcinoma|renal clear cell carcinoma|conventional renal cell carcinoma|renal clear cell adenocarcinoma|clear cell adenocarcinoma of kidney|hypernephroma|clear cell adenocarcinoma of the kidney	http://purl.obolibrary.org/obo/MONDO_0005005	Orphanet:319276|http://identifiers.org/snomedct/254915003|DOID:4467|NCIT:C4033	
MONDO:0007667	biolink:Disease	subependymoma	Subependymoma is a rare and slow growing type of ependymoma, often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma.	UMLS:C0206725|GARD:0010070|ICDO:9383/1|DOID:4843|MESH:D018315|EFO:1000553|ONCOTREE:SUBE|EFO:1001197|Orphanet:251639|NCIT:C3795|OMIM:137800	mondo.json	WHO grade I ependymal tumor|WHO grade I ependymal neoplasm|subependymal astrocytoma|subependymal astrocytoma (formerly)|SUBEPENDYMOMA, benign|subependymoma|mixed subependymoma-ependymoma|subependymal glioma	http://purl.obolibrary.org/obo/MONDO_0007667	NCIT:C3795|DOID:4843|UMLS:C0206725|http://identifiers.org/mesh/D018315|Orphanet:251639	prototype_pattern|ordo_histopathological_subtype
MONDO:0005008	biolink:Disease	colorectal adenocarcinoma	The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.	UMLS:C0699790|DOID:0050913|SCTID:408645001|UMLS:C1319315|DOID:0050861|ONCOTREE:COADREAD|EFO:0000365|SCTID:269533000|OMIM:114500|NCIT:C5105	mondo.json	adenocarcinoma of the large intestine|large bowel adenocarcinoma|adenocarcinoma of large intestine|colorectal adenocarcinoma|colorectum adenocarcinoma|adenocarcinoma of the large bowel|large intestine adenocarcinoma|colorectal (colon or rectal) adenocarcinoma|adenocarcinoma of large bowel	http://purl.obolibrary.org/obo/MONDO_0005008	DOID:0050861|DOID:0050913|NCIT:C5105|UMLS:C1319315|http://identifiers.org/snomedct/408645001	
MONDO:0005007	biolink:Disease	colon mucinous adenocarcinoma	An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.	DOID:3029|NCIT:C7966|EFO:0000364|UMLS:C0279639	mondo.json	mucinous colon adenocarcinoma|colloid colon adenocarcinoma|colon colloid adenocarcinoma|colonic colloidal adenocarcinoma|colonic mucinous adenocarcinoma|colloid adenocarcinoma of the colon|mucinous adenocarcinoma of the colon|colloid adenocarcinoma of colon|mucinous adenocarcinoma of colon|colonic colloid adenocarcinoma|colon mucinous adenocarcinoma|colloidal adenocarcinoma of the colon|colloidal colon adenocarcinoma|colon colloidal adenocarcinoma|colloidal adenocarcinoma of colon	http://purl.obolibrary.org/obo/MONDO_0005007	UMLS:C0279639|DOID:3029|NCIT:C7966	
MONDO:0007668	biolink:Disease	globulin anomaly involving beta (2A)-globulin		MESH:C564229|OMIM:137900|UMLS:C1842009	mondo.json	globulin anomaly involving beta (2A)-globulin	http://purl.obolibrary.org/obo/MONDO_0007668	https://omim.org/entry/137900|UMLS:C1842009|http://identifiers.org/mesh/C564229	
MONDO:0020643	biolink:Disease	autism susceptibility 1		OMIM:209850	mondo.json	AUTS1|autism susceptibility 1|autism susceptibility 1, isolated cases	http://purl.obolibrary.org/obo/MONDO_0020643		predisposition
MONDO:0007665	biolink:Disease	glaucoma 1, open angle, E	A form of glaucoma in which there is no visible abnormality in the trabecular meshwork.	ICD9:365.11|SCTID:77075001|MESH:C562750|ICD10CM:H40.1|OMIM:137760|NCIT:C35394|DOID:1070	mondo.json	glaucoma 1, open angle, E|chronic simple glaucoma|glaucoma, primary open angle, adult-onset	http://purl.obolibrary.org/obo/MONDO_0007665	https://omim.org/entry/137760|NCIT:C35394|http://identifiers.org/snomedct/77075001|http://purl.bioontology.org/ontology/ICD10CM/H40.1|DOID:1070|http://identifiers.org/mesh/C562750	obsoletion_candidate
MONDO:0005002	biolink:Disease	chronic obstructive pulmonary disease	A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema.	SCTID:13645005|NCIT:C3199|MESH:D029424|ICD9:496|DOID:3083|EFO:0000341|ICD9:490-496.99	mondo.json	chronic obstructive pulmonary disease, (COPD)|COPD|chronic obstructive airway disease|cold|chronic obstructive lung disease|COPD, chronic obstructive pulmonary disease|chronic obstructive airways disease|pulmonary disease (COPD), chronic obstructive|obstructive pulmonary disease (COPD), chronic|cold (chronic obstructive lung disease)|obstructive lung disease, chronic|disease (COPD), chronic obstructive|chronic obstructive pulmonary disease (COPD)	http://purl.obolibrary.org/obo/MONDO_0005002	DOID:3083|http://identifiers.org/snomedct/13645005|http://identifiers.org/mesh/D029424|NCIT:C3199	
MONDO:0005001	biolink:Disease	chronic gastritis	Inflammation of the stomach that is chronic in nature.	ICD9:535.40|EFO:0000337|HP:0005231|UMLS:C0085695|SCTID:8493009|ICD9:535.4|NCIT:C26929|ICD9:535.41	mondo.json	chronic gastritis|chronic gastritis (disease)|gastritis (disease), chronic	http://purl.obolibrary.org/obo/MONDO_0005001	UMLS:C0085695|http://identifiers.org/snomedct/8493009|NCIT:C26929	
MONDO:0020642	biolink:Disease	polycystic kidney disease	A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.	OMIMPS:173900|SCTID:82525005|MESH:D007690|NCIT:C75464|DOID:0080322	mondo.json	PKD - polycystic kidney disease|fibrocystic renal disease|polycystic kidney disease	http://purl.obolibrary.org/obo/MONDO_0020642	http://identifiers.org/mesh/D007690|http://identifiers.org/snomedct/82525005|https://omim.org/phenotypicSeries/PS173900|DOID:0080322|NCIT:C75464	
MONDO:0007666	biolink:Disease	glaucoma-sleep apnea syndrome	Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).	MESH:C564232|OMIM:137763|UMLS:C1842025|Orphanet:2085|GARD:0002483	mondo.json	glaucoma sleep apnea|glaucoma and sleep apnea	http://purl.obolibrary.org/obo/MONDO_0007666	Orphanet:2085|https://omim.org/entry/137763|UMLS:C1842025|http://identifiers.org/mesh/C564232	gard_rare|ordo_disease
MONDO:0005004	biolink:Disease	clear cell adenocarcinoma	A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid.	EFO:0000348|MESH:D018262|NCIT:C3766|UMLS:C0206681|NCIT:C4072|DOID:4468|ICDO:8310/3	mondo.json	clear cell adenocarcinoma (morphologic abnormality)|mesonephroid clear cell adenocarcinoma|mesonephroma, malignant (morphologic abnormality)|water-clear cell carcinoma|mesonephroma NOS (morphologic abnormality)|mesonephroma, malignant|malignant mesonephroma|water-clear cell adenocarcinoma (morphologic abnormality)|Wolffian duct neoplasm|mesonephroid clear cell carcinoma|clear cell adenocarcinoma|water-clear cell adenocarcinoma|adenocarcinoma, clear cell, malignant|clear cell carcinoma|clear cell adenocarcinoma NOS (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0005004	NCIT:C3766|DOID:4468|UMLS:C0206681|http://identifiers.org/mesh/D018262	
MONDO:0007663	biolink:Disease	glaucoma with elevated episcleral venous pressure		OMIM:137700|MESH:C564235|UMLS:C1842030	mondo.json	glaucoma with elevated episcleral venous pressure	http://purl.obolibrary.org/obo/MONDO_0007663	https://omim.org/entry/137700|UMLS:C1842030|http://identifiers.org/mesh/C564235	
MONDO:0020641	biolink:Disease	respiratory tract neoplasm	A benign or malignant, primary or metastatic neoplasm involving the respiratory tract.	ICD10CM:C30-C39|NCIT:C3355|EFO:0003853|SCTID:126667002|MESH:D012142	mondo.json	respiratory system neoplasm|neoplasms, respiratory tract|neoplasm of the respiratory tract|tumor of respiratory tract|tract neoplasms, respiratory|respiratory tract neoplasm|tumor of the respiratory tract|tract neoplasm, respiratory|neoplasm, respiratory tract|neoplasm of respiratory tract|respiratory tract tumor	http://purl.obolibrary.org/obo/MONDO_0020641	http://identifiers.org/snomedct/126667002|NCIT:C3355|http://identifiers.org/mesh/D012142	
MONDO:0007664	biolink:Disease	glaucoma 1, open angle, A	Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene.	GARD:0009485|MESH:C564234|OMIM:137750|UMLS:C1842028	mondo.json	GLC1A|glaucoma, primary open angle, juvenile-onset, 1|glaucoma hereditary, juvenile|glaucoma 1A, primary open angle|glaucoma 1, open angle, 50|JOAG1|juvenile open angle glaucoma caused by mutation in MYOC|juvenile glaucoma caused by mutation in MYOC|JOAG1A|MYOC juvenile glaucoma|MYOC juvenile open angle glaucoma|glaucoma 1, open angle, type A|glaucoma 1, open angle, A|primary open angle glaucoma juvenile onset 1	http://purl.obolibrary.org/obo/MONDO_0007664	https://omim.org/entry/137750|UMLS:C1842028|http://identifiers.org/mesh/C564234	
MONDO:0005003	biolink:Disease	chronic pancreatitis	A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus.	NCIT:C84637|ICD9:577.1|MESH:D050500|EFO:0000342|SCTID:235494005|UMLS:C0149521	mondo.json	pancreatitis, chronic	http://purl.obolibrary.org/obo/MONDO_0005003	http://identifiers.org/snomedct/235494005|http://identifiers.org/mesh/D050500|NCIT:C84637|UMLS:C0149521	
MONDO:0020640	biolink:Disease	autoimmune encephalitis	Inflammation of the brain secondary to an immune response triggered by the body itself.	NCIT:C122414|GARD:0011979|SCTID:95643007	mondo.json	autoimmune encephalitis	http://purl.obolibrary.org/obo/MONDO_0020640	NCIT:C122414|http://identifiers.org/snomedct/95643007	gard_rare
MONDO:0007661	biolink:Disease	Tourette syndrome	A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen.	EFO:0004895|OMIM:137580|Orphanet:856|DOID:11119|ICD9:307.23|MESH:D005879|SCTID:5158005|GARD:0007783|NCIT:C35078	mondo.json	Tourette disease|motor-verbal tic disorder|Gilles De 50A Tourette syndrome|psychogenic tics|Gilles de la Tourette syndrome|Tourette syndrome|Tourette's syndrome|Guinon's disease|chronic motor tics|Gilles de la Tourette syndrome, susceptibility to|Tourette disorder|GTS	http://purl.obolibrary.org/obo/MONDO_0007661	Orphanet:856|http://identifiers.org/snomedct/5158005|DOID:11119|http://identifiers.org/mesh/D005879|https://omim.org/entry/137580|NCIT:C35078	
MONDO:0007662	biolink:Disease	anterior segment dysgenesis 4	Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene.	OMIM:137600|UMLS:C1842031|DOID:0080609|GARD:0003026	mondo.json	iridogoniodysgenesis syndrome|ASGD4|PITX2 iridogoniodysgenesis|iridogoniodysgenesis, type 2|anterior segment dysgenesis 4|iridogoniodysgenesis type 2|iridogoniodysgenesis caused by mutation in PITX2|iris hypoplasia with early-onset glaucoma, autosomal dominant|IRID2	http://purl.obolibrary.org/obo/MONDO_0007662	DOID:0080609|UMLS:C1842031|https://omim.org/entry/137600	
MONDO:0005000	biolink:Disease	obsolete chromophobe renal cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005000		
MONDO:0007660	biolink:Disease	familial ossifying fibroma	An instance of ossifying fibroma (disease) that is caused by an inherited modification of the individual's genome.	Orphanet:435329|OMIM:137575|UMLS:CN237560|UMLS:C0555197|MESH:C563017|GARD:0010887	mondo.json	hereditary ossifying fibroma (disease)|intracortical fibrous dysplasia|multiple ossifying fibroma|Jaffe-Campanacci syndrome|cemental dysplasia, periapical|GIGANTIFORM cementoma, familial|Cementomas, familial multiple	http://purl.obolibrary.org/obo/MONDO_0007660	UMLS:CN237560|Orphanet:435329|http://identifiers.org/mesh/C563017|https://omim.org/entry/137575	ordo_disease
HP:0004357	biolink:PhenotypicFeature	Abnormal circulating leucine concentration	Any deviation from the normal circulation of leucine in the blood circulation.	UMLS:C4025341	mondo.json		http://purl.obolibrary.org/obo/HP_0004357		
MONDO:0020639	biolink:Disease	monosomy	A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number.	MESH:D009006|NCIT:C3239	mondo.json	monosomy	http://purl.obolibrary.org/obo/MONDO_0020639	http://identifiers.org/mesh/D009006	
MONDO:0020638	biolink:Disease	superficial spreading melanoma	A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi.	SCTID:254730000|ICDO:8743/3|NCIT:C9152	mondo.json	cutaneous superficial spreading melanoma|pagetoid melanoma|superficial spreading malignant melanoma of skin|superficial spreading melanoma of skin|superficial spreading malignant melanoma of the skin|superficial spreading melanoma of the skin|superficial spreading melanoma|superficial spreading cutaneous (skin) melanoma|superficial spreading malignant skin melanoma|SSM	http://purl.obolibrary.org/obo/MONDO_0020638	NCIT:C9152|http://identifiers.org/snomedct/254730000	
MONDO:0020637	biolink:Disease	mendelian susceptibility to mycobacterial diseases due to a partial deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020637		predisposition
MONDO:0020636	biolink:Disease	mendelian susceptibility to mycobacterial diseases due to a complete deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020636		predisposition
MONDO:0019658	biolink:Disease	obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation		Orphanet:93222|UMLS:CN206531	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019658	UMLS:CN206531|Orphanet:93222	
MONDO:0020635	biolink:Disease	anaplastic meningioma	A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields).	NCIT:C4051|ONCOTREE:ANM|ICDO:9530/3	mondo.json	meningioma, malignant|anaplastic meningioma|anaplastic (malignant) meningioma|malignant meningioma|meningioma, anaplastic, malignant	http://purl.obolibrary.org/obo/MONDO_0020635	NCIT:C4051	
MONDO:0019657	biolink:Disease	obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes		Orphanet:93221|UMLS:CN206530	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019657	UMLS:CN206530|Orphanet:93221	
MONDO:0020634	biolink:Disease	grade III meningioma	A malignant meningioma with aggressive clinical course. It recurs in approximately 50-78% of the cases. This category includes the anaplastic (malignant) meningioma, papillary meningioma, and rhabdoid meningioma.	NCIT:C38938	mondo.json	grade 3 meningioma|WHO grade III meningioma|grade III meningioma|meningioma, malignant	http://purl.obolibrary.org/obo/MONDO_0020634	NCIT:C38938	
MONDO:0020633	biolink:Disease	anaplastic cancer		NCIT:C36025|UMLS:C1332287	mondo.json	anaplastic malignant neoplasm	http://purl.obolibrary.org/obo/MONDO_0020633	NCIT:C36025|UMLS:C1332287	
MONDO:0019659	biolink:Disease	Pfeiffer syndrome type 1	Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.	Orphanet:93258|UMLS:CN206533	mondo.json	classic Pfeiffer syndrome|Pfeiffer syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0019659	UMLS:CN206533|Orphanet:93258	ordo_clinical_subtype
MONDO:0019654	biolink:Disease	familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis		UMLS:CN206527|Orphanet:93217	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019654	UMLS:CN206527|Orphanet:93217	ordo_histopathological_subtype
MONDO:0019653	biolink:Disease	familial idiopathic steroid-resistant nephrotic syndrome with minimal changes		Orphanet:93216|UMLS:CN206526	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019653	UMLS:CN206526|Orphanet:93216	ordo_histopathological_subtype
MONDO:0019656	biolink:Disease	sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis		UMLS:CN206529|Orphanet:93220	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019656	UMLS:CN206529|Orphanet:93220	ordo_histopathological_subtype
MONDO:0019655	biolink:Disease	sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis		UMLS:CN206528|Orphanet:93218	mondo.json	sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis	http://purl.obolibrary.org/obo/MONDO_0019655	UMLS:CN206528|Orphanet:93218	ordo_histopathological_subtype
MONDO:0019650	biolink:Disease	idiopathic steroid-sensitive nephrotic syndrome with minimal change		UMLS:CN206522|Orphanet:93207	mondo.json	steroid-sensitive MCNS	http://purl.obolibrary.org/obo/MONDO_0019650	UMLS:CN206522|Orphanet:93207	ordo_histopathological_subtype
HP:0004354	biolink:PhenotypicFeature	Abnormal circulating carboxylic acid concentration	Any deviation from the normal concentration of a carboxylic acid in the blood circulation.	UMLS:C4025344	mondo.json		http://purl.obolibrary.org/obo/HP_0004354		
MONDO:0019652	biolink:Disease	familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation		Orphanet:93214|UMLS:CN206525	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019652	UMLS:CN206525|Orphanet:93214	ordo_histopathological_subtype
HP:0004352	biolink:PhenotypicFeature	Abnormal circulating purine concentration	Any deviation from the normal concentration of a purine in the blood circulation.	UMLS:C4025346	mondo.json	Abnormal circulating purine level	http://purl.obolibrary.org/obo/HP_0004352		
MONDO:0019651	biolink:Disease	idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation		UMLS:CN206523|Orphanet:93209	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019651	UMLS:CN206523|Orphanet:93209	ordo_histopathological_subtype
MONDO:0005017	biolink:Disease	diffuse gastric adenocarcinoma	An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration.	EFO:0000402|ONCOTREE:DSTAD|DOID:6217|NCIT:C9159	mondo.json	gastric diffuse adenocarcinoma|diffuse gastric adenocarcinoma|adenocarcinoma of linitis plastica type|diffuse type stomach adenocarcinoma|diffuse adenocarcinoma of the stomach|diffuse adenocarcinoma of stomach|diffuse stomach adenocarcinoma|stomach diffuse type adenocarcinoma|carcinoma, diffuse type (morphologic abnormality)|adenocarcinoma of the linitis plastica type|carcinoma, diffuse type	http://purl.obolibrary.org/obo/MONDO_0005017	DOID:6217|NCIT:C9159	
MONDO:0005016	biolink:Disease	diabetic kidney disease	Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis.	MESH:D003928|EFO:0000401|SCTID:50620007|EFO:0004997|ICD9:250.4|EFO:0004996|SCTID:127013003|DOID:11503|ICD9:250.40|ICD9:583.81|NCIT:C84417	mondo.json	diabetic nephropathy|type 1 diabetes nephropathy|DKD|type 2 diabetes nephropathy	http://purl.obolibrary.org/obo/MONDO_0005016	http://identifiers.org/mesh/D003928|http://identifiers.org/snomedct/127013003|NCIT:C84417	
MONDO:0007678	biolink:Disease	obsolete glycoprotein, renal		OMIM:138710	mondo.json	glycoprotein, renal	http://purl.obolibrary.org/obo/MONDO_0007678	https://omim.org/entry/138710	
MONDO:0005019	biolink:Disease	diffuse scleroderma	A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement.	EFO:0000404|DOID:1580|NCIT:C116791|MESH:D045743	mondo.json	diffuse systemic sclerosis|systemic sclerosis, diffuse	http://purl.obolibrary.org/obo/MONDO_0005019	http://identifiers.org/mesh/D045743|DOID:1580	
MONDO:0007679	biolink:Disease	GMS syndrome	GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.	MESH:C564214|GARD:0002523|Orphanet:2090|OMIM:138770|UMLS:C1841854|SCTID:716024001	mondo.json	GMS syndrome|Goniodysgenesis-intellectual disability-short stature syndrome|Goniodysgenesis--intellectual disability--short stature syndrome|Goniodysgenesis--mental retardation--short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0007679	Orphanet:2090|http://identifiers.org/mesh/C564214|UMLS:C1841854|http://identifiers.org/snomedct/716024001|https://omim.org/entry/138770	gard_rare|ordo_malformation_syndrome
MONDO:0005018	biolink:Disease	obsolete diffuse large B-cell lymphoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005018		
MONDO:0007676	biolink:Disease	glutathione transferase activity toward trans-stilbene oxide		OMIM:138340	mondo.json	trans-stilbene oxide glutathione transferase activity|glutathione transferase activity toward trans-stilbene oxide	http://purl.obolibrary.org/obo/MONDO_0007676	https://omim.org/entry/138340	
MONDO:0005013	biolink:Disease	dedifferentiated chondrosarcoma	An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor.	UMLS:C0862878|ICDO:9243/3|EFO:0000394|NCIT:C6476|ONCOTREE:DDCHS	mondo.json	Dedifferentiated chondrosarcoma|DDCHS	http://purl.obolibrary.org/obo/MONDO_0005013	UMLS:C0862878|NCIT:C6476	
MONDO:0020632	biolink:Disease	epileptic encephalopathy, infantile or early childhood, 3		UMLS:CN248521|OMIM:618012	mondo.json	developmental and epileptic encephalopathy 93|IECEE3|epileptic encephalopathy, infantile or early childhood, 3	http://purl.obolibrary.org/obo/MONDO_0020632	UMLS:CN248521|https://omim.org/entry/618012	
MONDO:0005012	biolink:Disease	cutaneous melanoma	A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma.	ICD9:172.5|OMIM:155600|UMLS:C0151779|ICD9:172.4|EFO:0000389|OMIM:609048|ICD9:172.2|UMLS:C0153536|OMIM:615848|OMIM:608035|ICD9:172|ICD9:172.3|UMLS:C0153535|ICD9:172.0|ONCOTREE:SKCM|ICD9:172.9|NCIT:C3510|OMIM:613972|OMIM:614456|HP:0012056|DOID:8923|OMIM:613099|ICD9:172.8|SCTID:93655004|OMIM:615134|OMIM:612263	mondo.json	malignant cutaneous melanoma|cutaneous melanoma (disease)|malignant melanoma of skin of trunk except scrotum|melanoma (disease) of zone of skin|malignant melanoma of ear and/or external auricular canal|malignant melanoma of skin|melanoma of skin|zone of skin melanoma|malignant melanoma of skin of lower limb|melanoma of the skin|malignant neck melanoma|malignant melanoma of skin of upper limb|cutaneous (skin) melanoma|skin melanoma|malignant upper limb melanoma|cutaneous melanoma|malignant lower limb melanoma|malignant lip melanoma|malignant melanoma (of skin), stage unspecified|malignant trunk melanoma|skin, melanoma|malignant scalp melanoma|malignant ear melanoma|zone of skin melanoma (disease)|malignant melanoma of skin stage unspecified	http://purl.obolibrary.org/obo/MONDO_0005012	UMLS:C0151779|http://identifiers.org/snomedct/93655004|UMLS:C0153535|UMLS:C0153536|NCIT:C3510|DOID:8923	
MONDO:0020631	biolink:Disease	epileptic encephalopathy, infantile or early childhood, 2		DOID:0080471|UMLS:CN757794|OMIM:617829	mondo.json	IECEE2|developmental and epileptic encephalopathy 92|epileptic encephalopathy, infantile or early childhood, 2	http://purl.obolibrary.org/obo/MONDO_0020631	https://omim.org/entry/617829|UMLS:CN757794|DOID:0080471	
MONDO:0007677	biolink:Disease	hyperglycinuria		OMIM:138500|HP:0003108|MESH:C563009|UMLS:C0543541	mondo.json	Iminoglycinuria type 2|hyperglycinuria|hyperglycinuria (disease)|glycinuria with or without oxalate urolithiasis|glycinuria with or without oxalate nephrolithiasis	http://purl.obolibrary.org/obo/MONDO_0007677	UMLS:C0543541|http://identifiers.org/mesh/C563009|https://omim.org/entry/138500	
UBERON:0004290	biolink:AnatomicalEntity	dermomyotome			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004290		
MONDO:0020630	biolink:Disease	epileptic encephalopathy, infantile or early childhood, 1		DOID:0080472|OMIM:617711	mondo.json	epileptic encephalopathy, infantile or early childhood, 1|developmental and epileptic encephalopathy 91|IECEE1	http://purl.obolibrary.org/obo/MONDO_0020630	https://omim.org/entry/617711|DOID:0080472	
MONDO:0005015	biolink:Disease	diabetes mellitus	A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.	ICD10CM:E08-E13|EFO:0000400|UMLS:C0011849|UMLS:C0011847|SCTID:73211009|DOID:9351|NCIT:C2985|MESH:D003920|HP:0000819|ICD9:250	mondo.json	diabetes mellitus|DM|diabetes|diabetes mellitus (disease)	http://purl.obolibrary.org/obo/MONDO_0005015	http://identifiers.org/mesh/D003920|NCIT:C2985|http://identifiers.org/snomedct/73211009|UMLS:C0011849|UMLS:C0011847|DOID:9351|http://purl.bioontology.org/ontology/ICD10CM/E08-E13	
MONDO:0007674	biolink:Disease	glucose-6-phosphate dehydrogenase-like		OMIM:138110	mondo.json	G6PDL|glucose-6-phosphate dehydrogenase-like	http://purl.obolibrary.org/obo/MONDO_0007674	https://omim.org/entry/138110	
MONDO:0007675	biolink:Disease	glutamic acid decarboxylase, brain, membrane form		OMIM:138277	mondo.json	glutamic acid decarboxylase, brain, membrane form	http://purl.obolibrary.org/obo/MONDO_0007675	https://omim.org/entry/138277	
MONDO:0005014	biolink:Disease	obsolete dermatomyositis	OBSOLETE. Inflammation of the skin and muscle.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0005014		
GO:0140537	biolink:NamedThing	transcription regulator activator activity	A molecular function regulator that increases the activity of a transcription regulator via direct binding and/or post-translational modification.		mondo.json		http://purl.obolibrary.org/obo/GO_0140537		
MONDO:0007672	biolink:Disease	glomuvenous malformation	Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin.	NCIT:C5350|Orphanet:83454|DOID:7996|OMIM:138000|UMLS:C1841984|UMLS:C1333987|MESH:C536827|SCTID:715644000|MedDRA:10018381	mondo.json	GVM|glomus tumors, multiple|glomangiomas, multiple|multiple glomus tumors|GLOMUVENOUS malformations|Venous malformations with glomus cells|glomuvenous malformation|VMGLOM|glomangiomatosis|hereditary multiple glomangiomas|familial glomangioma|hereditary glomangioma	http://purl.obolibrary.org/obo/MONDO_0007672	UMLS:C1333987|http://identifiers.org/mesh/C536827|Orphanet:83454|NCIT:C5350|http://identifiers.org/snomedct/715644000|https://omim.org/entry/138000|UMLS:C1841984|DOID:7996	ordo_malformation_syndrome
MONDO:0007673	biolink:Disease	Glucoglycinuria		MESH:C562670|UMLS:C0268536|OMIM:138070	mondo.json	Glucoglycinuria	http://purl.obolibrary.org/obo/MONDO_0007673	https://omim.org/entry/138070|http://identifiers.org/mesh/C562670|UMLS:C0268536	
MONDO:0005011	biolink:Disease	Crohn disease	A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement.	OMIM:266600|ICD9:555.1|DOID:8778|EFO:0000384|Orphanet:206|SCTID:7620006|NCIT:C2965|UMLS:CN043071|SCTID:34000006|MESH:D003424	mondo.json	Crohn's disease|Crohn disease|granulomatous colitis|regional enteritis|Crohn's disease of large bowel|pediatric Crohn's disease|Crohn's disease of colon	http://purl.obolibrary.org/obo/MONDO_0005011	UMLS:CN043071|NCIT:C2965|Orphanet:206|http://identifiers.org/snomedct/7620006|http://identifiers.org/mesh/D003424|DOID:8778	
MONDO:0007670	biolink:Disease	hypotrichosis-lymphedema-telangiectasia syndrome (grouping)	Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.	Orphanet:69735|GARD:0012827	mondo.json	hypotrichosis lymphedema telangiectasia syndrome	http://purl.obolibrary.org/obo/MONDO_0007670	Orphanet:69735	ordo_disease
MONDO:0005010	biolink:Disease	coronary artery disorder	Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC)	MESH:D003324|EFO:0001645|ICD9:410-414.99|DOID:3393|SCTID:414024009|NCIT:C26732|ICD9:414.9|MESH:D017202|ICD9:414.0|UMLS:C0151744|SCTID:414545008|GARD:0011944|UMLS:C1956346	mondo.json	coronary artery disease|CHD (coronary heart disease)|coronary disease|disease of coronary artery|coronary artery disease or disorder|disorder of coronary artery|coronary heart disease|CAD|CHD|coronary arteriosclerosis|disease or disorder of coronary artery	http://purl.obolibrary.org/obo/MONDO_0005010	DOID:3393|UMLS:C1956346|NCIT:C26732|http://identifiers.org/mesh/D003324|http://identifiers.org/snomedct/414024009	
MONDO:0007671	biolink:Disease	fibronectin glomerulopathy	A hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.	OMIMPS:137950|SCTID:236535001|MESH:C562900|GARD:0009268|MESH:C536826|Orphanet:84090	mondo.json	GFND2|glomerulopathy with fibronectin deposits|lobular glomerulopathy, familial|fibronectin glomerulopathy|glomerulopathy with giant fibrillar deposits|glomerulopathy with fibronectin deposits 2|glomerulopathy with fibronectin deposits 1|GFND1|GFND|glomerular nephritis, familial, with fibronectin deposits	http://purl.obolibrary.org/obo/MONDO_0007671	Orphanet:84090|http://identifiers.org/mesh/C536826|http://identifiers.org/snomedct/236535001|http://identifiers.org/mesh/C562900|https://omim.org/phenotypicSeries/PS137950	ordo_disease|prototype_pattern|gard_rare
MONDO:0020629	biolink:Disease	microcephaly, growth restriction and increased sister chromatid exchange		OMIMPS:210900	mondo.json	MGRISCE	http://purl.obolibrary.org/obo/MONDO_0020629	https://omim.org/phenotypicSeries/PS210900	
UBERON:0004297	biolink:AnatomicalEntity	respiratory system blood vessel smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004297		
MONDO:0020628	biolink:Disease	microcephaly, growth restriction, and increased sister chromatid exchange 2		OMIM:618097	mondo.json	microcephaly, growth restriction, and increased sister chromatid exchange 2|MGRISCE2	http://purl.obolibrary.org/obo/MONDO_0020628	https://omim.org/entry/618097	ordo_disease
HP:0004368	biolink:PhenotypicFeature	Increased circulating purine concentration	Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring.	UMLS:C4025332	mondo.json	Increased purine levels|Increased purine level	http://purl.obolibrary.org/obo/HP_0004368		
MONDO:0020627	biolink:Disease	epileptic encephalopathy, infantile or early childhood		OMIMPS:617711	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020627	https://omim.org/phenotypicSeries/PS617711	
MONDO:0020626	biolink:Disease	obsolete yt blood group antigen		OMIM:112100	mondo.json	Cartwright Antigen|YT BLOOD GROUP ANTIGEN|blood group, Yt system	http://purl.obolibrary.org/obo/MONDO_0020626	https://omim.org/entry/112100	
UBERON:0004296	biolink:AnatomicalEntity	respiratory system lymphatic vessel smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004296		
MONDO:0019647	biolink:Disease	congenital bilateral megacalycosis		Orphanet:93177	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019647	Orphanet:93177	ordo_clinical_subtype
MONDO:0020625	biolink:Disease	obsolete blood group--wright antigen		OMIM:112050	mondo.json	WR|blood group, Wright|BLOOD GROUP--WRIGHT ANTIGEN|Wright Blood Group Antigen	http://purl.obolibrary.org/obo/MONDO_0020625	https://omim.org/entry/112050	
UBERON:0004293	biolink:AnatomicalEntity	parasympathetic nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004293		
MONDO:0020624	biolink:Disease	obsolete blood group--waldner type		OMIM:112010	mondo.json	BLOOD GROUP--WALDNER TYPE|blood group, Waldner|Waldner Blood Group Antigen|WD	http://purl.obolibrary.org/obo/MONDO_0020624	https://omim.org/entry/112010	
UBERON:0004294	biolink:AnatomicalEntity	glomerular capillary endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004294		
MONDO:0019646	biolink:Disease	unilateral congenital megacalycosis		Orphanet:93176	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019646	Orphanet:93176	ordo_clinical_subtype
MONDO:0019649	biolink:Disease	idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis		Orphanet:93206|UMLS:CN206521	mondo.json	idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis	http://purl.obolibrary.org/obo/MONDO_0019649	Orphanet:93206|UMLS:CN206521	ordo_histopathological_subtype
MONDO:0020623	biolink:Disease	obsolete blood group--ul system		OMIM:112000	mondo.json	UL|BLOOD GROUP--Ul SYSTEM	http://purl.obolibrary.org/obo/MONDO_0020623	https://omim.org/entry/112000	
UBERON:0004291	biolink:AnatomicalEntity	heart rudiment			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004291		
MONDO:0019648	biolink:Disease	achondrogenesis	Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.	SCTID:2391001|OMIMPS:200600|ICD10CM:Q77.0|MESH:C579878|MedDRA:10066122|NCIT:C84527|Orphanet:932|DOID:0080043|GARD:0002882|UMLS:C0001079	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019648	NCIT:C84527|http://purl.bioontology.org/ontology/ICD10CM/Q77.0|UMLS:C0001079|DOID:0080043|http://identifiers.org/snomedct/2391001|http://identifiers.org/mesh/C579878|https://omim.org/phenotypicSeries/PS200600|Orphanet:932	ordo_disease|gard_rare
MONDO:0020622	biolink:Disease	obsolete blood group--stoltzfus system		OMIM:111800	mondo.json	Sf|BLOOD GROUP--STOLTZFUS SYSTEM|blood group, Stoltzfus system	http://purl.obolibrary.org/obo/MONDO_0020622	https://omim.org/entry/111800	
UBERON:0004292	biolink:AnatomicalEntity	cardiac skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004292		
MONDO:0019643	biolink:Disease	transient pseudohypoaldosteronism	Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants.	SCTID:717263009|UMLS:C4273962|Orphanet:93164|UMLS:CN776908	mondo.json	TPHA	http://purl.obolibrary.org/obo/MONDO_0019643	http://identifiers.org/snomedct/717263009|UMLS:C4273962|Orphanet:93164|UMLS:CN776908	ordo_malformation_syndrome
MONDO:0019642	biolink:Disease	vitamin D-dependent rickets, type 2	Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.	NCIT:C131077|SCTID:72831007|ICD10CM:E83.3|Orphanet:93160	mondo.json	vitamin D-resistant rickets type II|vitamin D dependent rickets 2|hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal Vitamin D receptor|HVDRR|vitamin D-dependent rickets, type 2|vitamin D receptor deficiency|VDDR2|VDDR II|hereditary vitamin D-resistant rickets|vitamin D-dependent rickets type II|VDRR II|hypocalcemic vitamin D-resistant rickets	http://purl.obolibrary.org/obo/MONDO_0019642	http://identifiers.org/snomedct/72831007|NCIT:C131077|Orphanet:93160	ordo_disease
HP:0004360	biolink:PhenotypicFeature	Abnormality of acid-base homeostasis	An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.	MSH:D000137|UMLS:C0001118	mondo.json	Acid base imbalance	http://purl.obolibrary.org/obo/HP_0004360		
MONDO:0019645	biolink:Disease	renal dysplasia, bilateral	Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.	HP:0012582|SCTID:204950001|Orphanet:93173	mondo.json	bilateral renal dysplasia	http://purl.obolibrary.org/obo/MONDO_0019645	http://identifiers.org/snomedct/204950001|Orphanet:93173	ordo_clinical_subtype
MONDO:0019644	biolink:Disease	renal dysplasia, unilateral	Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.	HP:0008718|Orphanet:93172	mondo.json	unilateral renal dysplasia	http://purl.obolibrary.org/obo/MONDO_0019644	Orphanet:93172	ordo_clinical_subtype
HP:0004364	biolink:PhenotypicFeature	Abnormal circulating nitrogen compound concentration	Any deviation from the normal concentration of a nitrogen compound in the blood circulation.	UMLS:C4025336	mondo.json		http://purl.obolibrary.org/obo/HP_0004364		
MONDO:0019641	biolink:Disease	pauci-immune glomerulonephritis	Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA.	Orphanet:93126	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019641	Orphanet:93126	ordo_disease
HP:0004363	biolink:PhenotypicFeature	Abnormal circulating calcium concentration	Any deviation from the normal concentration of calcium in the blood circulation.		mondo.json	Abnormal circulating Ca2+ concentration|Abnormal blood calcium levels|Abnormal circulating Ca concentration|Abnormal blood calcium concentration	http://purl.obolibrary.org/obo/HP_0004363		
MONDO:0019640	biolink:Disease	posterior urethral valve	Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO) and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.	UMLS:CN227669|MedDRA:10036369|NCIT:C99021|UMLS:C0238506|Orphanet:93110|SCTID:253900005|GARD:0007439|ICD9:753.8	mondo.json	congenital posterior urethral valves|PUV|Posterior urethral valves	http://purl.obolibrary.org/obo/MONDO_0019640	UMLS:C0238506|UMLS:CN227669|http://identifiers.org/snomedct/253900005|NCIT:C99021|Orphanet:93110	ordo_morphological_anomaly
MONDO:0007649	biolink:Disease	gastric juice peptides		OMIM:137220	mondo.json	gastric juice peptides	http://purl.obolibrary.org/obo/MONDO_0007649	https://omim.org/entry/137220	
MONDO:0007647	biolink:Disease	gastric volvulus, intrathoracic		MESH:C564989|UMLS:C1850902|OMIM:137210	mondo.json	gastric volvulus, intrathoracic	http://purl.obolibrary.org/obo/MONDO_0007647	https://omim.org/entry/137210|UMLS:C1850902|http://identifiers.org/mesh/C564989	
MONDO:0007648	biolink:Disease	hereditary diffuse gastric adenocarcinoma	An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations.	GARD:0010900|OMIM:137215|DOID:0080763|Orphanet:26106|NCIT:C43295|SCTID:716859000|UMLS:C1708349|GARD:0010334	mondo.json	signet ring gastric carcinoma|gastric cancer, familial diffuse|breast cancer, lobular|signet ring cell gastric carcinoma|diffuse gastric cancer|FDGC|familial diffuse cancer of stomach|gastric cancer, familial diffuse, and cleft lip with or without cleft palate|hereditary diffuse gastric cancer|familial diffuse gastric cancer|HDGC|signet cell adenocarcinoma|gastric cancer, hereditary diffuse|diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate|hereditary diffuse gastric adenocarcinoma|hereditary diffuse cancer of stomach	http://purl.obolibrary.org/obo/MONDO_0007648	NCIT:C43295|https://omim.org/entry/137215|UMLS:C1708349|http://identifiers.org/snomedct/716859000|Orphanet:26106|DOID:0080763	gard_rare|ordo_disease|clingen
MONDO:0007645	biolink:Disease	obsolete gastric sneezing		UMLS:C1850930|MESH:C564990|OMIM:137130	mondo.json	stomach sneeze reflex|gastric sneezing	http://purl.obolibrary.org/obo/MONDO_0007645	https://omim.org/entry/137130|UMLS:C1850930|http://identifiers.org/mesh/C564990	
MONDO:0007646	biolink:Disease	Gamstorp-Wohlfart syndrome	A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.	UMLS:CN074193|OMIM:137200|SCTID:711406009|DOID:0050526|Orphanet:324442|GARD:0012353	mondo.json	autosomal recessive neuromyotonia and axonal neuropathy|myokymia, myotonia and muscle wasting|ARCMT2-NM|autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia|NMAN|Gamstorp-Wohlfart syndrome|ARAN-NM|autosomal recessive axonal neuropathy with neuromyotonia|myokymia, myotonia, and muscle wasting|neuromyotonia and axonal neuropathy, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0007646	Orphanet:324442|https://omim.org/entry/137200|UMLS:CN074193|http://identifiers.org/snomedct/711406009|DOID:0050526	ordo_disease
MONDO:0007643	biolink:Disease	gamma-A-globulin, defect in assembly of		OMIM:137050|MESH:C564991|UMLS:C1850934	mondo.json	Immunoglobulin A, defect in Assembly of|IgA, defect in Assembly of|gamma-A-globulin, defect in ASSEMBLY OF	http://purl.obolibrary.org/obo/MONDO_0007643	https://omim.org/entry/137050|UMLS:C1850934|http://identifiers.org/mesh/C564991	
MONDO:0020621	biolink:Disease	obsolete blood group--scianna system		OMIM:111750	mondo.json	SC|Scianna Blood Group|blood group, Scianna system|BLOOD GROUP--SCIANNA SYSTEM	http://purl.obolibrary.org/obo/MONDO_0020621	https://omim.org/entry/111750	
MONDO:0007644	biolink:Disease	IgAD1	Decreased or absent levels of serum immunoglobulin A, with normal serum levels of immunoglobulin G and immunoglobulin M in a patient who is older than 4 years of age and in whom all other causes of hypogammaglobulinemia have been excluded. Affected individuals may be asymptomatic or have frequent infections, allergic reactions, or autoimmune disorders.	NCIT:C123434|MESH:C536290|OMIM:137100	mondo.json	immunoglobulin A deficiency, autosomal recessive, autosomal dominant, isolated cases|IgAD1|Immunoglobulin A, selective deficiency of|IgA, selective deficiency of|IMMUNOGLOBULIN A deficiency 1|gamma-A-globulin, selective deficiency of	http://purl.obolibrary.org/obo/MONDO_0007644	https://omim.org/entry/137100|NCIT:C123434|http://identifiers.org/mesh/C536290	
MONDO:0020620	biolink:Disease	obsolete blood group, ss		OMIM:111740	mondo.json	BLOOD GROUP, Ss|blood group, Ss|Ss Blood Group|Ss	http://purl.obolibrary.org/obo/MONDO_0020620	https://omim.org/entry/111740	
MONDO:0007641	biolink:Disease	obsolete Futcher line		OMIM:137000	mondo.json	Voigt lines|Futcher line|pigmentary demarcation lines	http://purl.obolibrary.org/obo/MONDO_0007641	https://omim.org/entry/137000	
MONDO:0007642	biolink:Disease	isolated agenesis of gallbladder		Orphanet:440987|MESH:C562564|OMIM:137040	mondo.json	gallbladder, agenesis OF	http://purl.obolibrary.org/obo/MONDO_0007642	https://omim.org/entry/137040|Orphanet:440987|http://identifiers.org/mesh/C562564	ordo_morphological_anomaly
MONDO:0007640	biolink:Disease	Sorsby fundus dystrophy	A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.	DOID:0090114|GARD:0010511|Orphanet:59181|MESH:C564992|OMIM:136900|SCTID:193410003	mondo.json	hemorrhagic macular dystrophy|Sorsby's pseudoinflammatory macular dystrophy|Sorsby pseudoinflammatory fundus dystrophy|SFD|macular dystrophy, hemorrhagic|pseudoinflammatory fundus dystrophy of Sorsby|Sorsby fundus dystrophy|Sorsby's fundus dystrophy|fundus dystrophy, pseudoinflammatory, of Sorsby	http://purl.obolibrary.org/obo/MONDO_0007640	http://identifiers.org/snomedct/193410003|https://omim.org/entry/136900|DOID:0090114|http://identifiers.org/mesh/C564992|Orphanet:59181	ordo_disease
MONDO:0020618	biolink:Disease	obsolete blood group--private systems		OMIM:111500	mondo.json	BLOOD GROUP--PRIVATE SYSTEMS|antigenic Determinants of Low Frequency in the Population	http://purl.obolibrary.org/obo/MONDO_0020618	https://omim.org/entry/111500	
MONDO:0019639	biolink:Disease	congenital megacalycosis	Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection.	SCTID:85901000|Orphanet:93109|ICD9:753.3	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019639	Orphanet:93109|http://identifiers.org/snomedct/85901000	ordo_morphological_anomaly
MONDO:0020617	biolink:Disease	obsolete blood group--ok		OMIM:111380	mondo.json	blood group, OK|OK|BLOOD GROUP--OK	http://purl.obolibrary.org/obo/MONDO_0020617	https://omim.org/entry/111380	
MONDO:0020616	biolink:Disease	obsolete blood group, mn		OMIM:111300	mondo.json	Blood Group, Mnss System|blood group, MNSs system|BLOOD GROUP, MN|MN|Mns Blood Group Systed|Mn Blood Group|Mnss Blood Group System	http://purl.obolibrary.org/obo/MONDO_0020616	https://omim.org/entry/111300	
MONDO:0020615	biolink:Disease	obsolete blood group system, landsteiner-wiener		OMIM:111250	mondo.json	Landsteiner-Wiener Blood Group System|LW|blood group, Landsteiner-Wiener|BLOOD GROUP SYSTEM, LANDSTEINER-WIENER	http://purl.obolibrary.org/obo/MONDO_0020615	https://omim.org/entry/111250	
MONDO:0020614	biolink:Disease	obsolete blood group--lutheran system		OMIM:111200	mondo.json	BLOOD GROUP--LUTHERAN SYSTEM|blood group, Lutheran system|Auberger System|blood group, Auberger system|LU	http://purl.obolibrary.org/obo/MONDO_0020614	https://omim.org/entry/111200	
MONDO:0019636	biolink:Disease	renal agenesis, unilateral	Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter.	MedDRA:10053624|UMLS:C0266294|NCIT:C101220|Orphanet:93100|ICD10CM:Q60.0	mondo.json	unilateral renal agenesis|congenital single kidney|congenital solitary kidney	http://purl.obolibrary.org/obo/MONDO_0019636	Orphanet:93100|http://purl.bioontology.org/ontology/ICD10CM/Q60.0|UMLS:C0266294|NCIT:C101220	ordo_clinical_subtype
MONDO:0019635	biolink:Disease	idiopathic achalasia	A primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition.	GARD:0005708|OMIM:200400|MedDRA:10036669|SCTID:715192004|UMLS:C1860213|UMLS:C0859976|Orphanet:930	mondo.json	idiopathic achalasia of esophagus|primary achalasia|achalasia cardia	http://purl.obolibrary.org/obo/MONDO_0019635	UMLS:C0859976|Orphanet:930|http://identifiers.org/snomedct/715192004	ordo_disease
MONDO:0020613	biolink:Disease	obsolete blood group--lke		OMIM:111130	mondo.json	Blood Group--Luke|LKE|Blood Group--Luke, Formerly|BLOOD GROUP--LKE	http://purl.obolibrary.org/obo/MONDO_0020613	https://omim.org/entry/111130	
HP:0004339	biolink:PhenotypicFeature	Abnormal circulating sulfur amino acid concentration	Any deviation from the normal concentration of a sulfur amino acid in the blood circulation.	UMLS:C4021660	mondo.json	Abnormality of sulfur-containing amino acids|Abnormal circulating sulphur amino acid concentration	http://purl.obolibrary.org/obo/HP_0004339		
MONDO:0020612	biolink:Disease	obsolete blood group, kidd system		OMIM:111000	mondo.json	Kidd Blood Group System|JK|BLOOD GROUP, KIDD SYSTEM|blood group, Kidd	http://purl.obolibrary.org/obo/MONDO_0020612	https://omim.org/entry/111000	
MONDO:0019638	biolink:Disease	renal dysplasia	Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia.	HP:0000110|Orphanet:93108	mondo.json	renal dysplasia|renal dysplasia (disease)	http://purl.obolibrary.org/obo/MONDO_0019638	Orphanet:93108	ordo_morphological_anomaly
HP:0004338	biolink:PhenotypicFeature	Abnormal circulating aromatic amino acid concentration	Any deviation from the normal concentration of a aromatic amino acid in the blood circulation.	UMLS:C4025352	mondo.json	Abnormality of aromatic amino acid family metabolism	http://purl.obolibrary.org/obo/HP_0004338		
MONDO:0019637	biolink:Disease	renal hypoplasia	Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied.	HP:0000089|Orphanet:93101|DOID:0080204|SCTID:32659003|MedDRA:10049102	mondo.json	renal hypoplasia|renal hypoplasia (disease)	http://purl.obolibrary.org/obo/MONDO_0019637	Orphanet:93101|http://identifiers.org/snomedct/32659003|DOID:0080204	ordo_morphological_anomaly
MONDO:0020611	biolink:Disease	obsolete blood group--kell system		OMIM:110900	mondo.json	K(0)|Ko|blood group, Kell|BLOOD GROUP--KELL SYSTEM|KEL|Kell-Null|Blood Group--Kell-Cellano System	http://purl.obolibrary.org/obo/MONDO_0020611	https://omim.org/entry/110900	
HP:0004337	biolink:PhenotypicFeature	Abnormality of amino acid metabolism	Abnormality of an amino acid metabolic process.	UMLS:C1328440	mondo.json	Amino acid levels abnormal	http://purl.obolibrary.org/obo/HP_0004337		
MONDO:0019632	biolink:Disease	Lyme disease	Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi.	GARD:0012073|UMLS:C0024198|Orphanet:91546|NCIT:C45161|DOID:11729|ICD10CM:A69.2|MedDRA:10025169|MESH:D008193|ICD9:088.81|EFO:0008510|SCTID:48982009	mondo.json	Borrelia burgdorferi infection|Lyme borreliosis|Lyme disease|neuroborreliosis|Borreliella burgdorferi disease or disorder|Borreliella burgdorferi infectious disease|Borreliella burgdorferi caused disease or disorder|Bannworth's syndrome|Borrelia|Bannwarth syndrome|neurological Lyme disease|Lyme neuroborreliosis	http://purl.obolibrary.org/obo/MONDO_0019632	Orphanet:91546|http://identifiers.org/mesh/D008193|http://purl.bioontology.org/ontology/ICD10CM/A69.2|NCIT:C45161|UMLS:C0024198|http://identifiers.org/snomedct/48982009|DOID:11729	ordo_disease
MONDO:0019631	biolink:Disease	persistent hyperplastic primary vitreous	A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)	MESH:D054514|SCTID:314270008|Orphanet:91495|OMIMPS:221900|DOID:0060282	mondo.json	persistent fetal vasculature syndrome|PFVS|PHPV|non-syndromic congenital retinal non-attachment|ncRNA disease|congenital retinal detachment	http://purl.obolibrary.org/obo/MONDO_0019631	https://omim.org/phenotypicSeries/PS221900|http://identifiers.org/snomedct/314270008|Orphanet:91495|http://identifiers.org/mesh/D054514|DOID:0060282	ordo_disease
MONDO:0019634	biolink:Disease	familial nasal acilia	Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions.	SCTID:763532008|Orphanet:922|UMLS:CN206502|GARD:0002254	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019634	Orphanet:922|http://identifiers.org/snomedct/763532008|UMLS:CN206502	gard_rare|ordo_disease
MONDO:0019633	biolink:Disease	relapsing fever	Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease belonging to the Borrelia burgdorferi complex.	UMLS:C0035021|Orphanet:91547|DOID:13034|MESH:D012061|SCTID:420079008|ICD10CM:A68|ICD9:087.9|MedDRA:10038300|ICD9:087	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019633	http://identifiers.org/snomedct/420079008|Orphanet:91547|http://identifiers.org/mesh/D012061|http://purl.bioontology.org/ontology/ICD10CM/A68|DOID:13034|UMLS:C0035021	ordo_disease
HP:0004332	biolink:PhenotypicFeature	Abnormal lymphocyte morphology	An abnormality of lymphocytes.	UMLS:C0427546|SNOMEDCT_US:250284007	mondo.json	Abnormal lymphocytes|Abnormality of cells of the lymphoid lineage	http://purl.obolibrary.org/obo/HP_0004332		
MONDO:0019630	biolink:Disease	congenital ectropion uveae	Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities.	ICD10CM:Q10.1|Orphanet:91491	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019630	Orphanet:91491	ordo_malformation_syndrome
UBERON:0004288	biolink:AnatomicalEntity	skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004288		
MONDO:0020619	biolink:Disease	obsolete blood group, langereis system		OMIM:111600	mondo.json	blood group, Langereis system|LAN|BLOOD GROUP, LANGEREIS SYSTEM	http://purl.obolibrary.org/obo/MONDO_0020619	https://omim.org/entry/111600	
NBO:0000404	biolink:NamedThing	stretch reflex	"A muscle contraction in response to stretching within the muscle." [wikipedia:Stretch_reflex]		mondo.json	deep tendon reflex	http://purl.obolibrary.org/obo/NBO_0000404		
MONDO:0007658	biolink:Disease	obsolete spitz nevus	OBSOLETE. A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0007658		
MONDO:0007659	biolink:Disease	obsolete giant platelet syndrome with thrombocytopenia		MESH:C564237|UMLS:C1842035|OMIM:137560	mondo.json		http://purl.obolibrary.org/obo/MONDO_0007659	https://omim.org/entry/137560|UMLS:C1842035|http://identifiers.org/mesh/C564237	
MONDO:0007656	biolink:Disease	Gerstmann-Straussler-Scheinker syndrome	A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia.	Orphanet:356|NCIT:C84727|ICD10CM:A81.82|GARD:0007690|SCTID:67155006|OMIM:137440|DOID:4249|MESH:C535800|MedDRA:10072075|UMLS:C0017495|ICD9:046.71	mondo.json	cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system|cerebellar ataxia, progressive dementia, and amyloid deposits in CNS|Gerstmann Straussler Scheinker syndrome|amyloidosis cerebral with spongiform encephalopathy|amyloidosis, cerebral, with spongiform encephalopathy|encephalopathy, Subacute spongiform, Gerstmann-Straussler type|prion dementia|Gerstmann-Straussler-Scheinker disease|GSD|cerebral amyloid angiopathy, Prnp-related|subacute spongiform encephalopathy, Gerstmann-Straussler type|encephalopathy subacute spongiform Gerstmann-Straussler type|Gerstmann-Straussler disease	http://purl.obolibrary.org/obo/MONDO_0007656	NCIT:C84727|https://omim.org/entry/137440|http://purl.bioontology.org/ontology/ICD10CM/A81.82|Orphanet:356|DOID:4249|http://identifiers.org/mesh/C535800|UMLS:C0017495|http://identifiers.org/snomedct/67155006	ordo_disease
MONDO:0007657	biolink:Disease	giant neutrophil leukocytes		UMLS:C1842039|OMIM:137500	mondo.json	giant neutrophil leukocytes	http://purl.obolibrary.org/obo/MONDO_0007657	https://omim.org/entry/137500|UMLS:C1842039	
MONDO:0007654	biolink:Disease	genu valgum, st. Helena familial		GARD:0008429|MESH:C537685|OMIM:137370|UMLS:C1842052	mondo.json	St. Helena familial genu valgum|hereditary pubertal genu valgum|genu valgum, hereditary pubertal|genu valgum, st Helena familial|severe 'knock-knees' and variable lesser malalignment at the elbows and wrists|genu valgum, st. Helena familial	http://purl.obolibrary.org/obo/MONDO_0007654	https://omim.org/entry/137370|http://identifiers.org/mesh/C537685|UMLS:C1842052	gard_rare
MONDO:0020610	biolink:Disease	obsolete blood group, diego system		OMIM:110500	mondo.json	blood group, Diego|Diego Blood Group System|DI|BLOOD GROUP, DIEGO SYSTEM	http://purl.obolibrary.org/obo/MONDO_0020610	https://omim.org/entry/110500	
MONDO:0007655	biolink:Disease	fissured tongue		UMLS:C0017677|UMLS:C0040412|OMIM:137400|SCTID:52368004|GARD:0006493|UMLS:C1842051|MESH:D014063|DOID:11514|ICD9:529.5|ICD9:750.13|ICD10CM:K14.5	mondo.json	geographic tongue and fissured tongue|tongue, fissured|congenital plicated tongue|lingua plicata|ectopic geographic tongue|fissure of tongue|fissure of tongue, congenital|Furrowed tongue|erythema migrans|scrotal tongue|glossitis, benign migratory|congenital fissure of tongue|plicated tongue|geographic and fissured tongue	http://purl.obolibrary.org/obo/MONDO_0007655	http://identifiers.org/snomedct/52368004|https://omim.org/entry/137400|http://identifiers.org/mesh/D014063|UMLS:C1842051|UMLS:C0040412|DOID:11514|http://purl.bioontology.org/ontology/ICD10CM/K14.5	
MONDO:0007652	biolink:Disease	gastric mucosal hypertrophy	MC)nC)trier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss.	ICD9:535.20|MedDRA:10017868|GARD:0002436|DOID:8757|SCTID:60002000|MedDRA:10017807|Orphanet:2494|OMIM:137280|EFO:1000946|UMLS:C0017155|MESH:D005758|ICD9:535.21|NCIT:C67277|ICD9:535.2	mondo.json	Menetrier disease|giant hypertrophic gastropathy|gastritis, familial giant hypertrophic|MENETRIER disease|hypoproteinemic hypertrophic gastropathy|hypertrophic gastritis|giant hypertrophic gastritis|giant hypertrophy of the gastric mucosa|Gastroenteropathy, protein losing|familial giant hypertrophic gastritis|hypertrophic gastropathy|giant rugal hypertrophy of stomach|Menetrier's disease|Ménétrier disease	http://purl.obolibrary.org/obo/MONDO_0007652	DOID:8757|Orphanet:2494|http://identifiers.org/snomedct/60002000|UMLS:C0017155|NCIT:C67277|http://identifiers.org/mesh/D005758|https://omim.org/entry/137280	ordo_disease
MONDO:0007653	biolink:Disease	genochondromatosis		UMLS:C1300229|MESH:C563215|GARD:0010621|OMIM:137360|SCTID:389264005	mondo.json	genochondromatosis	http://purl.obolibrary.org/obo/MONDO_0007653	https://omim.org/entry/137360|UMLS:C1300229|http://identifiers.org/mesh/C563215|http://identifiers.org/snomedct/389264005	prototype_pattern|gard_rare
MONDO:0007650	biolink:Disease	MALT lymphoma	An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001)	NCIT:C3898|Orphanet:52417|UMLS:C0242647|ICD9:202.80|MedDRA:10060707|Wikipedia:MALT_lymphoma|OMIM:137245|UMLS:C1850900|SCTID:277622004|ICDO:9699/3|DOID:0050909|ONCOTREE:EMALT|EFO:0000191|GARD:0006485	mondo.json	MALToma|mucosa-associated lymphatic tissue lymphoma|Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue|MALT lymphoma|MALT-lymphoma|lymphoma, mucosa-associated lymphoid type|lymphoma of mucosa-associated lymphoid tissue|extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma)|mucosa-associated lymphoid tissue lymphoma|lymphoma, MALT, somatic|gastric lymphoma, primary|familial primary gastric lymphoma|Extranodal marginal zone B-cell lymphoma|Immunocytoma|Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue|Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT-lymphoma)	http://purl.obolibrary.org/obo/MONDO_0007650	NCIT:C3898|UMLS:C0242647|UMLS:C1850900|http://identifiers.org/snomedct/277622004|DOID:0050909|Orphanet:52417|https://omim.org/entry/137245	ordo_disease
MONDO:0007651	biolink:Disease	gastrocutaneous syndrome		UMLS:C1850899|GARD:0002438|Orphanet:2069|MESH:C535651|OMIM:137270	mondo.json	peptic Ulcer/hiatal hernia, multiple lentigines/cafe-Au-lait Spots, hypertelorism, myopia|gastrocutaneous syndrome	http://purl.obolibrary.org/obo/MONDO_0007651	Orphanet:2069|UMLS:C1850899|http://identifiers.org/mesh/C535651|https://omim.org/entry/137270	ordo_disease|gard_rare
MONDO:0019629	biolink:Disease	sclerocornea	A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.	DOID:0060252|Orphanet:91490|MESH:C565209|HP:0000647	mondo.json	sclerocornea|sclerocornea (disease)|isolated congenital sclerocornea	http://purl.obolibrary.org/obo/MONDO_0019629	DOID:0060252|Orphanet:91490|http://identifiers.org/mesh/C565209	ordo_morphological_anomaly
MONDO:0020607	biolink:Disease	Liddle syndrome 1	Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene.	OMIM:177200	mondo.json	Pseudoaldosteronism|Liddle syndrome 1|LIDLS1|Liddle syndrome|Liddle syndrome caused by mutation in SCNN1B|SCNN1B Liddle syndrome	http://purl.obolibrary.org/obo/MONDO_0020607	https://omim.org/entry/177200	
UBERON:0004275	biolink:AnatomicalEntity	third ventricle choroid plexus epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004275		
UBERON:0004276	biolink:AnatomicalEntity	fourth ventricle choroid plexus epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004276		
MONDO:0019628	biolink:Disease	Rieger anomaly	Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly.	OMIM:601631|MedDRA:10059198|OMIM:602482|Orphanet:91483	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019628	Orphanet:91483	ordo_morphological_anomaly
MONDO:0020606	biolink:Disease	sex-linked disease		SCTID:82852009|ICD9:758.81	mondo.json	sex-linked hereditary disorder	http://purl.obolibrary.org/obo/MONDO_0020606	http://identifiers.org/snomedct/82852009	
MONDO:0020605	biolink:Disease	X-linked recessive disease	X-linked recessive form of disease.	DOID:0080012	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020605	DOID:0080012	
UBERON:0004273	biolink:AnatomicalEntity	cartilaginous joint suture			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004273		
MONDO:0020604	biolink:Disease	X-linked dominant disease	X-linked dominant form of disease.	DOID:0080009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020604	DOID:0080009	
UBERON:0004274	biolink:AnatomicalEntity	lateral ventricle choroid plexus epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004274		
MONDO:0019625	biolink:Disease	familial thoracic aortic aneurysm and aortic dissection	A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.	UMLS:C0392775|Orphanet:91387|SCTID:45894003|UMLS:CN118826|OMIM:610168|OMIMPS:607086|GARD:0002249|GARD:0001654|OMIM:609192|SCTID:764965000|ICD9:447.9	mondo.json	Erdheim cystic medial necrosis of aorta|familial aortic aneurysm|annuloaortic ectasia|FTAAD|cystic medial necrosis of aorta|Erdheim disease|familial thoracic aortic aneurysm and dissection|familial aortic dissection|familial thoracic aortic aneurysm|familial thoracic aortic aneurysm and aortic dissection|familial TAAD	http://purl.obolibrary.org/obo/MONDO_0019625	http://identifiers.org/snomedct/764965000|https://omim.org/phenotypicSeries/PS607086|UMLS:C0392775|Orphanet:91387|http://identifiers.org/snomedct/45894003|UMLS:CN118826	ordo_disease|gard_rare|prototype_pattern
MONDO:0020603	biolink:Disease	X-linked chondrodysplasia punctata 2	A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.	OMIM:302960|DOID:0080352|Orphanet:35173|GARD:0006189	mondo.json	chondrodysplasia punctata 2 X-linked dominant|Happle syndrome|Conradi-Hunermann syndrome|EBP chondrodysplasia punctata|Conradi-Hünermann-Happle syndrome|CDPX2|Conradi Hunermann syndrome|chondrodysplasia punctata, X-linked dominant, X-linked dominant|X-linked chondrodysplasia punctata type 2|CDPXD|Conradi-Hunermann-Happle syndrome|chondrodysplasia punctata caused by mutation in EBP|chondrodysplasia punctata 2, X-linked dominant|Conrad Hunermann Happle syndrome	http://purl.obolibrary.org/obo/MONDO_0020603	DOID:0080352|https://omim.org/entry/302960|Orphanet:35173	
UBERON:0004271	biolink:AnatomicalEntity	outflow tract pericardium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004271		
MONDO:0019624	biolink:Disease	acquired angioedema	Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency.	UMLS:C2931758|MESH:C538173|Orphanet:91385|GARD:0008605	mondo.json	acquired angioneurotic edema|acquired angioedema|angioedema, acquired|acquired bradykinine-induced angioedema|AAE|acquired C1 inhibitor deficiency|acquired non histamine-induced angioedema	http://purl.obolibrary.org/obo/MONDO_0019624	UMLS:C2931758|http://identifiers.org/mesh/C538173|Orphanet:91385	ordo_disease|gard_rare
MONDO:0020602	biolink:Disease	Simpson-Golabi-Behmel syndrome type 1	Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene.	DOID:0060248|OMIM:312870	mondo.json	dysplasia gigantism syndrome, X-linked|GPC3 Simpson-Golabi-Behmel syndrome|Simpson-Golabi-Behmel syndrome caused by mutation in GPC3|Simpson-Golabi-Behmel syndrome type 1|Golabi-Rosen syndrome|Simpson dysmorphia syndrome|bulldog syndrome|SGBS1|Simpson-Golabi-Behmel syndrome, type 1, X-linked recessive|Simpson-Golabi-Behmel syndrome, type 1|Sgbs|DGSX Golabi-Rosen syndrome	http://purl.obolibrary.org/obo/MONDO_0020602	DOID:0060248|https://omim.org/entry/312870	
HP:0004349	biolink:PhenotypicFeature	Reduced bone mineral density	A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.	UMLS:C2674432	mondo.json	Low solidness and mass of the bones|Decreased bone mineral density Z score|Decreased bone mineral density	http://purl.obolibrary.org/obo/HP_0004349		
MONDO:0019627	biolink:Disease	isolated congenital alacrima	Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth.	Orphanet:91416|SCTID:717262004|UMLS:C4273963	mondo.json	nonsyndromic congenital alacrima	http://purl.obolibrary.org/obo/MONDO_0019627	http://identifiers.org/snomedct/717262004|Orphanet:91416|UMLS:C4273963	ordo_disease
MONDO:0020601	biolink:Disease	mosquito-borne viral encephalitis	Viral encephalitis that is transmitted by mosquitos.	NCIT:C34823	mondo.json	mosquito-borne viral encephalitis	http://purl.obolibrary.org/obo/MONDO_0020601	NCIT:C34823	
HP:0004348	biolink:PhenotypicFeature	Abnormality of bone mineral density	This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.	UMLS:C4021657	mondo.json	Abnormality of bone mineralisation and ossification	http://purl.obolibrary.org/obo/HP_0004348		
MONDO:0019626	biolink:Disease	isolated ankyloblepharon filiforme adnatum	Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors.	Orphanet:91397|UMLS:C1302999	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019626	Orphanet:91397	ordo_morphological_anomaly
MONDO:0020600	biolink:Disease	acute pharyngitis	An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache.	NCIT:C34355|SCTID:363746003	mondo.json	acute pharyngitis|pharyngitis, acute	http://purl.obolibrary.org/obo/MONDO_0020600	NCIT:C34355|http://identifiers.org/snomedct/363746003	
UBERON:0004270	biolink:AnatomicalEntity	lower leg connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004270		
MONDO:0019621	biolink:Disease	chronic pneumonitis of infancy	Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD).	UMLS:CN206472|Orphanet:91359|UMLS:C3872848|SCTID:708026002	mondo.json	CPI	http://purl.obolibrary.org/obo/MONDO_0019621	Orphanet:91359|http://identifiers.org/snomedct/708026002|UMLS:CN206472|UMLS:C3872848	ordo_disease
MONDO:0019620	biolink:Disease	congenital esophageal diverticulum	Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations.	Orphanet:91358|SCTID:204667006|ICD9:750.4	mondo.json	congenital esophageal pouch	http://purl.obolibrary.org/obo/MONDO_0019620	Orphanet:91358|http://identifiers.org/snomedct/204667006	ordo_morphological_anomaly
MONDO:0019623	biolink:Disease	hereditary angioedema	Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.	OMIMPS:106100|MedDRA:10019860|MESH:D054179|Orphanet:91378|GARD:0005979|UMLS:CN239191|NCIT:C84758|UMLS:C0019243|DOID:14735|SCTID:82966003	mondo.json	hereditary bradykinine-induced angioedema|familial angioneurotic edema|deficiency of C1 esterase inhibitor|hereditary angioneurotic edema|HAE|hereditary angioedema|angioedema, hereditary|HANE|hereditary non histamine-induced angioedema	http://purl.obolibrary.org/obo/MONDO_0019623	NCIT:C84758|UMLS:CN239191|Orphanet:91378|https://omim.org/phenotypicSeries/PS106100|http://identifiers.org/mesh/D054179|http://identifiers.org/snomedct/82966003|UMLS:C0019243|DOID:14735	ordo_disease
MONDO:0019622	biolink:Disease	non-specific interstitial pneumonia	Idiopathic interstitial pneumonia characterized by chronic inflammation and fibrosis in the interstitial lung tissue. It includes cases that cannot be classified into one of the other types of idiopathic interstitial pneumonia.	SCTID:129452008|NCIT:C35717|DOID:2801|UMLS:C1290344|Orphanet:91364|ICD9:516.8	mondo.json	nonspecific interstitial pneumonia|non-specific idiopathic interstitial pneumonia|NSIP	http://purl.obolibrary.org/obo/MONDO_0019622	UMLS:C1290344|Orphanet:91364|NCIT:C35717|http://identifiers.org/snomedct/129452008|DOID:2801	ordo_disease
MONDO:0020609	biolink:Disease	obsolete blood group, colton system		OMIM:110450	mondo.json	Colton Blood Group System|aquaporin-1 deficiency|CO|BLOOD GROUP, COLTON SYSTEM|Colton-Null Phenotype|blood group, Colton	http://purl.obolibrary.org/obo/MONDO_0020609	https://omim.org/entry/110450	
HP:0004341	biolink:PhenotypicFeature	Abnormality of vitamin B12 metabolism		UMLS:C4021658	mondo.json	Abnormality of the vitamin B12 metabolism	http://purl.obolibrary.org/obo/HP_0004341		
UBERON:0004277	biolink:AnatomicalEntity	eye muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004277		
MONDO:0020608	biolink:Disease	obsolete blood group--ahonen		OMIM:110350	mondo.json	AN|BLOOD GROUP--AHONEN	http://purl.obolibrary.org/obo/MONDO_0020608	https://omim.org/entry/110350	
HP:0004340	biolink:PhenotypicFeature	Abnormality of vitamin B metabolism		UMLS:C4021659	mondo.json	Abnormality of B-vitamin metabolism	http://purl.obolibrary.org/obo/HP_0004340		
NCBITaxon:1643685	biolink:OrganismalEntity	Borreliaceae		PMID:23908650|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1643685		
GO:0007632	biolink:NamedThing	visual behavior	The behavior of an organism in response to a visual stimulus.		mondo.json	behavioral response to visual stimulus|visual behaviour|behavioural response to visual stimulus	http://purl.obolibrary.org/obo/GO_0007632		
GO:0007631	biolink:NamedThing	feeding behavior	Behavior associated with the intake of food.		mondo.json	feeding from xylem of other organism|feeding from plant phloem|behavioral response to food|injection of substance into other organism during feeding on blood of other organism|feeding on blood of other organism|feeding on or from other organism|feeding from vascular tissue of another organism|hematophagy|feeding behaviour|feeding from tissue of other organism|eating|feeding from phloem of other organism|feeding on plant sap|behavioural response to food|taking of blood meal	http://purl.obolibrary.org/obo/GO_0007631		
NCBITaxon:1643688	biolink:OrganismalEntity	Leptospirales		PMID:23908650|GC_ID:11	mondo.json	Leptospiriales	http://purl.obolibrary.org/obo/NCBITaxon_1643688		
UBERON:0006846	biolink:AnatomicalEntity	surface groove			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006846		
UBERON:0006843	biolink:AnatomicalEntity	root of cranial nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006843		
CHEBI:33484	biolink:ChemicalSubstance	chalcogen oxoacid			mondo.json	chalcogen oxoacids|chalcogen oxoacid	http://purl.obolibrary.org/obo/CHEBI_33484		
CHEBI:33485	biolink:ChemicalSubstance	chalcogen oxoanion			mondo.json	chalcogen oxoanion|chalcogen oxoanions	http://purl.obolibrary.org/obo/CHEBI_33485		
GO:0019627	biolink:NamedThing	urea metabolic process	The chemical reactions and pathways involving urea, the water soluble compound O=C-(NH2)2.		mondo.json	urea metabolism	http://purl.obolibrary.org/obo/GO_0019627		
NCIT:C12378	biolink:NamedThing	Digestive System		IMDRF:E10	mondo.json		http://purl.obolibrary.org/obo/NCIT_C12378		http://purl.obolibrary.org/obo/NCIT_C66830|http://purl.obolibrary.org/obo/NCIT_C77526|http://purl.obolibrary.org/obo/NCIT_C74456|http://purl.obolibrary.org/obo/NCIT_C61410
HGNC:2600	biolink:NamedThing	CYP21A2			mondo.json		http://identifiers.org/hgnc/2600		
UBERON:0006834	biolink:AnatomicalEntity	uterus or analog			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006834		
UBERON:0006833	biolink:AnatomicalEntity	lumen of trachea			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006833		
CHEBI:33482	biolink:ChemicalSubstance	sulfur oxoanion			mondo.json	sulfur oxoanions|sulfur oxoanion|oxoanions of sulfur	http://purl.obolibrary.org/obo/CHEBI_33482		
GO:0007618	biolink:NamedThing	mating	The pairwise union of individuals for the purpose of sexual reproduction, ultimately resulting in the formation of zygotes.		mondo.json		http://purl.obolibrary.org/obo/GO_0007618		
GO:0007617	biolink:NamedThing	mating behavior	The behavioral interactions between organisms for the purpose of mating, or sexual reproduction resulting in the formation of zygotes.		mondo.json	mating behaviour	http://purl.obolibrary.org/obo/GO_0007617		
HGNC:2606	biolink:NamedThing	CYP27B1			mondo.json		http://identifiers.org/hgnc/2606		
HGNC:2605	biolink:NamedThing	CYP27A1			mondo.json		http://identifiers.org/hgnc/2605		
GO:0007613	biolink:NamedThing	memory	The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task).		mondo.json		http://purl.obolibrary.org/obo/GO_0007613		
GO:0007611	biolink:NamedThing	learning or memory	The acquisition and processing of information and/or the storage and retrieval of this information over time.		mondo.json		http://purl.obolibrary.org/obo/GO_0007611		
UBERON:0006815	biolink:AnatomicalEntity	areolar connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006815		
HGNC:2602	biolink:NamedThing	CYP24A1			mondo.json		http://identifiers.org/hgnc/2602		
GO:0007610	biolink:NamedThing	behavior	The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity.		mondo.json	behaviour|behavioural response to stimulus|single-organism behavior|behavioral response to stimulus	http://purl.obolibrary.org/obo/GO_0007610		
CHEBI:33459	biolink:ChemicalSubstance	pnictogen oxoanion			mondo.json	pnictogen oxoanion|pnictogen oxoanions	http://purl.obolibrary.org/obo/CHEBI_33459		
CHEBI:33452	biolink:ChemicalSubstance	benzylic group	Arylmethyl groups and derivatives formed by substitution: ArCR2-.		mondo.json	benzylic groups|benzylic groups|groupe benzylique|benzylic group	http://purl.obolibrary.org/obo/CHEBI_33452		
NCBITaxon:127916	biolink:OrganismalEntity	Ichthyosporea		PMID:10449446|PMID:12142489|GC_ID:1|PMID:8876236	mondo.json	Mesomycetozoa|DRIP clade|Mesomycetozoea	http://purl.obolibrary.org/obo/NCBITaxon_127916		
CHEBI:33457	biolink:ChemicalSubstance	phosphorus oxoacid	A pnictogen oxoacid which contains phosphorus and oxygen, at least one hydrogen atom bound to oxygen, and forms an ion by the loss of one or more protons.		mondo.json	oxoacids of phosphorus|phosphorus oxoacid|phosphorus oxoacids|Oxosaeure des Phosphors	http://purl.obolibrary.org/obo/CHEBI_33457		
HGNC:2610	biolink:NamedThing	CYP2A6			mondo.json		http://identifiers.org/hgnc/2610		
UBERON:0006822	biolink:AnatomicalEntity	proximal epiphysis of ulna			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006822		
GO:0007626	biolink:NamedThing	locomotory behavior	The specific movement from place to place of an organism in response to external or internal stimuli. Locomotion of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions.		mondo.json	locomotory behavioral response to stimulus|locomotory behavioural response to stimulus|behavior via locomotion|locomotion in response to stimulus|locomotory behaviour	http://purl.obolibrary.org/obo/GO_0007626		
NCBITaxon:6029	biolink:OrganismalEntity	Microsporidia		PMID:28808018|PMID:10563021|PMID:9892676|PMID:12684019|PMID:17051209|GC_ID:1|PMID:12142484	mondo.json	Microspora|microsporidians|microsporidians|Microsporida|Microsporea	http://purl.obolibrary.org/obo/NCBITaxon_6029		
UBERON:0006807	biolink:AnatomicalEntity	ectepicondyle of humerus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006807		
HGNC:2615	biolink:NamedThing	CYP2B6			mondo.json		http://identifiers.org/hgnc/2615		
GO:0007623	biolink:NamedThing	circadian rhythm	Any biological process in an organism that recurs with a regularity of approximately 24 hours.		mondo.json	response to circadian rhythm|circadian process|circadian response	http://purl.obolibrary.org/obo/GO_0007623		
GO:0007622	biolink:NamedThing	rhythmic behavior	The specific behavior of an organism that recur with measured regularity.		mondo.json	rhythmic behavioural response to stimulus|rhythmic behavioral response to stimulus|rhythmic behaviour	http://purl.obolibrary.org/obo/GO_0007622		
GO:0007620	biolink:NamedThing	copulation	The act of sexual union between male and female, involving the transfer of sperm.		mondo.json		http://purl.obolibrary.org/obo/GO_0007620		
CHEBI:33465	biolink:ChemicalSubstance	elemental pnictogen			mondo.json	elemental pnictogen|elemental pnictogens	http://purl.obolibrary.org/obo/CHEBI_33465		
HGNC:2623	biolink:NamedThing	CYP2C9			mondo.json		http://identifiers.org/hgnc/2623		
UBERON:0006813	biolink:AnatomicalEntity	nasal skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006813		
HGNC:2621	biolink:NamedThing	CYP2C19			mondo.json		http://identifiers.org/hgnc/2621		
NCBITaxon:6035	biolink:OrganismalEntity	Encephalitozoon cuniculi		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6035		
NCBITaxon:6032	biolink:OrganismalEntity	Apansporoblastina		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6032		
UBERON:0006810	biolink:AnatomicalEntity	olecranon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006810		
NCBITaxon:6033	biolink:OrganismalEntity	Encephalitozoon		GC_ID:1	mondo.json	Septata	http://purl.obolibrary.org/obo/NCBITaxon_6033		
CHEBI:33461	biolink:ChemicalSubstance	phosphorus oxoanion			mondo.json	oxoanions of phosphorus|phosphorus oxoanion|phosphorus oxoanions	http://purl.obolibrary.org/obo/CHEBI_33461		
RO:0002093	biolink:NamedThing	ends during			mondo.json		http://purl.obolibrary.org/obo/RO_0002093		
NCBITaxon:1329799	biolink:OrganismalEntity	Archelosauria		PMID:22839753|PMID:25450099|GC_ID:1	mondo.json	Testudines + Archosauria group|Archosauria-Testudines	http://purl.obolibrary.org/obo/NCBITaxon_1329799		
HGNC:2625	biolink:NamedThing	CYP2D6			mondo.json		http://identifiers.org/hgnc/2625		
UBERON:0004219	biolink:AnatomicalEntity	urethra smooth muscle layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004219		
RO:0002090	biolink:NamedThing	immediately precedes			mondo.json		http://purl.obolibrary.org/obo/RO_0002090		
UBERON:0004220	biolink:AnatomicalEntity	large intestine smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004220		
UBERON:0004221	biolink:AnatomicalEntity	intestine smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004221		
CHEBI:33431	biolink:ChemicalSubstance	elemental chlorine			mondo.json		http://purl.obolibrary.org/obo/CHEBI_33431		
CHEBI:33432	biolink:ChemicalSubstance	monoatomic chlorine			mondo.json	atomic chlorine	http://purl.obolibrary.org/obo/CHEBI_33432		
CHEBI:33433	biolink:ChemicalSubstance	monoatomic halogen			mondo.json	monoatomic halogens	http://purl.obolibrary.org/obo/CHEBI_33433		
CHEBI:33434	biolink:ChemicalSubstance	elemental halogen			mondo.json	elemental halogen|elemental halogens	http://purl.obolibrary.org/obo/CHEBI_33434		
UBERON:0004228	biolink:AnatomicalEntity	urinary bladder smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004228		
UBERON:0004229	biolink:AnatomicalEntity	urinary bladder trigone smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004229		
UBERON:0004226	biolink:AnatomicalEntity	gastrointestinal system smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004226		
UBERON:0004227	biolink:AnatomicalEntity	kidney pelvis smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004227		
UBERON:0004224	biolink:AnatomicalEntity	muscular coat of vas deferens			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004224		
UBERON:0004225	biolink:AnatomicalEntity	respiratory system smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004225		
UBERON:0004222	biolink:AnatomicalEntity	stomach smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004222		
RO:0014001	biolink:NamedThing	disease has infectious agent	A relationship between a disease and an infectious agent where the material basis of the disease is an infection with some infectious agent.	RO:0014001	mondo.json		http://purl.obolibrary.org/obo/RO_0014001		
UBERON:0004223	biolink:AnatomicalEntity	vagina smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004223		
RO:0002081	biolink:NamedThing	before or simultaneous with			mondo.json		http://purl.obolibrary.org/obo/RO_0002081		
NCBITaxon:54281	biolink:OrganismalEntity	Chrysomyini		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_54281		
GO:0007606	biolink:NamedThing	sensory perception of chemical stimulus	The series of events required for an organism to receive a sensory chemical stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process.		mondo.json	chemosensory perception	http://purl.obolibrary.org/obo/GO_0007606		
GO:0007605	biolink:NamedThing	sensory perception of sound	The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound.		mondo.json	perception of sound|hearing	http://purl.obolibrary.org/obo/GO_0007605		
RO:0002082	biolink:NamedThing	simultaneous with			mondo.json		http://purl.obolibrary.org/obo/RO_0002082		
HGNC:2638	biolink:NamedThing	CYP3A5			mondo.json		http://identifiers.org/hgnc/2638		
NCBITaxon:54285	biolink:OrganismalEntity	Oestrinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_54285		
GO:0007601	biolink:NamedThing	visual perception	The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image.		mondo.json	vision|sense of sight|sensory visual perception	http://purl.obolibrary.org/obo/GO_0007601		
UBERON:0004208	biolink:AnatomicalEntity	nephrogenic mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004208		
GO:0007600	biolink:NamedThing	sensory perception	The series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process.		mondo.json		http://purl.obolibrary.org/obo/GO_0007600		
UBERON:0004209	biolink:AnatomicalEntity	renal vesicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004209		
RO:0002084	biolink:NamedThing	during which ends			mondo.json		http://purl.obolibrary.org/obo/RO_0002084		
RO:0002086	biolink:NamedThing	ends after			mondo.json		http://purl.obolibrary.org/obo/RO_0002086		
RO:0002087	biolink:NamedThing	immediately preceded by	X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y)		mondo.json	is directly preceded by|is immediately preceded by|directly preceded by|starts_at_end_of	http://purl.obolibrary.org/obo/RO_0002087		
UBERON:0006872	biolink:AnatomicalEntity	handplate apical ectodermal ridge			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006872		
UBERON:0006871	biolink:AnatomicalEntity	embryonic footplate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006871		
UBERON:0004217	biolink:AnatomicalEntity	upper arm nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004217		
UBERON:0004218	biolink:AnatomicalEntity	lower leg nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004218		
UBERON:0004215	biolink:AnatomicalEntity	back nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004215		
UBERON:0006877	biolink:AnatomicalEntity	vasculature of liver			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006877		
UBERON:0004216	biolink:AnatomicalEntity	lower arm nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004216		
UBERON:0006876	biolink:AnatomicalEntity	vasculature of organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006876		
UBERON:0004214	biolink:AnatomicalEntity	upper leg nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004214		
UBERON:0006875	biolink:AnatomicalEntity	embryonic handplate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006875		
UBERON:0004211	biolink:AnatomicalEntity	nephron epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004211		
GO:0007608	biolink:NamedThing	sensory perception of smell	The series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors. This is a neurological process.		mondo.json	olfaction|smell perception|scent perception|sense of smell	http://purl.obolibrary.org/obo/GO_0007608		
UBERON:0004212	biolink:AnatomicalEntity	glomerular capillary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004212		
NCBITaxon:54292	biolink:OrganismalEntity	Apodemus flavicollis		GC_ID:1	mondo.json	Sylvaemus flavicollis|Yellow-necked field mouse	http://purl.obolibrary.org/obo/NCBITaxon_54292		
HGNC:2649	biolink:NamedThing	CYP51A1			mondo.json		http://identifiers.org/hgnc/2649		
HP:0006919	biolink:PhenotypicFeature	Abnormal aggressive, impulsive or violent behavior		UMLS:C4024963	mondo.json	Abnormal aggressive, impulsive or violent behaviour|Aggressive/violent behaviour|Aggressive/violent behavior	http://purl.obolibrary.org/obo/HP_0006919		
UBERON:0006861	biolink:AnatomicalEntity	diaphysis proper			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006861		
UBERON:0006868	biolink:AnatomicalEntity	seminal fluid secreting gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006868		
UBERON:0004204	biolink:AnatomicalEntity	outer medullary collecting duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004204		
UBERON:0004205	biolink:AnatomicalEntity	inner medullary collecting duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004205		
UBERON:0006866	biolink:AnatomicalEntity	terminal part of digestive tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006866		
UBERON:0006865	biolink:AnatomicalEntity	metaphysis of femur			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006865		
HGNC:2652	biolink:NamedThing	CYP7B1			mondo.json		http://identifiers.org/hgnc/2652		
UBERON:0004202	biolink:AnatomicalEntity	kidney outer medulla outer stripe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004202		
UBERON:0004203	biolink:AnatomicalEntity	cortical collecting duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004203		
UBERON:0006864	biolink:AnatomicalEntity	distal metaphysis of femur			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006864		
UBERON:0004200	biolink:AnatomicalEntity	kidney pyramid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004200		
UBERON:0006863	biolink:AnatomicalEntity	proximal metaphysis of femur			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006863		
UBERON:0006862	biolink:AnatomicalEntity	diaphysis of femur			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006862		
UBERON:0006849	biolink:AnatomicalEntity	scapula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006849		
CHEBI:33429	biolink:ChemicalSubstance	monoatomic monoanion			mondo.json	monoatomic monoanions	http://purl.obolibrary.org/obo/CHEBI_33429		
NCBITaxon:6072	biolink:OrganismalEntity	Eumetazoa		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6072		
CHEBI:33424	biolink:ChemicalSubstance	sulfur oxoacid derivative			mondo.json	sulfur oxoacid derivative|sulfur oxoacid derivatives	http://purl.obolibrary.org/obo/CHEBI_33424		
UBERON:0006858	biolink:AnatomicalEntity	adrenal/interrenal gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006858		
HGNC:2666	biolink:NamedThing	DAG1			mondo.json		http://identifiers.org/hgnc/2666		
HGNC:2665	biolink:NamedThing	CD55			mondo.json		http://identifiers.org/hgnc/2665		
UBERON:0006855	biolink:AnatomicalEntity	muscular coat of ureter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006855		
UBERON:0006853	biolink:AnatomicalEntity	renal cortex tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006853		
HGNC:2661	biolink:NamedThing	DAB1			mondo.json		http://identifiers.org/hgnc/2661		
FOODON:03411215	biolink:NamedThing	obsolete: algae, bacteria or fungus		http://www.langual.org/langual_thesaurus.asp?termid=B1215	mondo.json		http://purl.obolibrary.org/obo/FOODON_03411215		
RO:0002170	biolink:NamedThing	connected to	a is connected to b if and only if a and b are discrete structure, and there exists some connecting structure c, such that c connects a and b		mondo.json		http://purl.obolibrary.org/obo/RO_0002170		
FOODON:03411213	biolink:NamedThing	nut producing plant			mondo.json		http://purl.obolibrary.org/obo/FOODON_03411213		
RO:0002176	biolink:NamedThing	connects	c connects a if and only if there exist some b such that a and b are similar parts of the same system, and c connects b, specifically, c connects a with b. When one structure connects two others it unites some aspect of the function or role they play within the system.		mondo.json		http://purl.obolibrary.org/obo/RO_0002176		
PATO:0002304	biolink:NamedThing	increased process quality	A quality of a process that has a value that is increased compared to normal or average.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002304		
GO:0005179	biolink:NamedThing	hormone activity	The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects; all bind receptors and trigger some biological process.		mondo.json	lipopeptide hormone|peptide hormone|glycopeptide hormone|cAMP generating peptide activity	http://purl.obolibrary.org/obo/GO_0005179		
RO:0002177	biolink:NamedThing	attached to part of	a is attached to part of b if a is attached to b, or a is attached to some p, where p is part of b.		mondo.json		http://purl.obolibrary.org/obo/RO_0002177		
PATO:0002305	biolink:NamedThing	increased object quality	A quality of an object that has a value that is increased compared to normal or average.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002305		
RO:0002178	biolink:NamedThing	supplies	Relation between an arterial structure and another structure, where the arterial structure acts as a conduit channeling fluid, substance or energy.		mondo.json		http://purl.obolibrary.org/obo/RO_0002178		
PATO:0002302	biolink:NamedThing	decreased process quality	A quality of a process that has a value that is decreased compared to normal or average.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002302		
RO:0002179	biolink:NamedThing	drains	Relation between an collecting structure and another structure, where the collecting structure acts as a conduit channeling fluid, substance or energy away from the other structure.		mondo.json		http://purl.obolibrary.org/obo/RO_0002179		
PATO:0002303	biolink:NamedThing	decreased object quality	A quality of an object that has a value that is decreased compared to normal or average.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002303		
GO:0044782	biolink:NamedThing	cilium organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.		mondo.json	microtubule-based flagellum organization	http://purl.obolibrary.org/obo/GO_0044782		
RO:0002175	biolink:NamedThing	present in taxon	S present_in_taxon T if some instance of T has some S. This does not means that all instances of T have an S - it may only be certain life stages or sexes that have S		mondo.json		http://purl.obolibrary.org/obo/RO_0002175		
PATO:0002300	biolink:NamedThing	increased quality	A quality that has a value that is increased compared to normal or average.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002300		
GO:0042127	biolink:NamedThing	regulation of cell population proliferation	Any process that modulates the frequency, rate or extent of cell proliferation.		mondo.json	regulation of cell proliferation	http://purl.obolibrary.org/obo/GO_0042127		
PATO:0002301	biolink:NamedThing	decreased quality	A quality that has a value that is decreased compared to normal or average.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002301		
GO:0017157	biolink:NamedThing	regulation of exocytosis	Any process that modulates the frequency, rate or extent of exocytosis.		mondo.json		http://purl.obolibrary.org/obo/GO_0017157		
GO:0017171	biolink:NamedThing	serine hydrolase activity	Catalysis of the hydrolysis of a substrate by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine).		mondo.json		http://purl.obolibrary.org/obo/GO_0017171		
RO:0002160	biolink:NamedThing	only in taxon	x only in taxon y if and only if x is in taxon y, and there is no other organism z such that y!=z a and x is in taxon z.		mondo.json		http://purl.obolibrary.org/obo/RO_0002160		
FOODON:03411222	biolink:NamedThing	fish	Fish are the gill-bearing aquatic craniate animals that lack limbs with digits. Most fish are ectothermic ("cold-blooded"), allowing their body temperatures to vary as ambient temperatures change, though some of the large active swimmers like white shark and tuna can hold a higher core temperature.		mondo.json		http://purl.obolibrary.org/obo/FOODON_03411222		
GO:0032787	biolink:NamedThing	monocarboxylic acid metabolic process	The chemical reactions and pathways involving monocarboxylic acids, any organic acid containing one carboxyl (COOH) group or anion (COO-).		mondo.json	monocarboxylate metabolic process|monocarboxylic acid metabolism	http://purl.obolibrary.org/obo/GO_0032787		
GO:0042133	biolink:NamedThing	neurotransmitter metabolic process	The chemical reactions and pathways involving neurotransmitters, any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell.		mondo.json	neurotransmitter metabolism	http://purl.obolibrary.org/obo/GO_0042133		
GO:0042135	biolink:NamedThing	neurotransmitter catabolic process	The chemical reactions and pathways resulting in the breakdown of any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell.		mondo.json	neurotransmitter breakdown|neurotransmitter degradation|neurotransmitter catabolism	http://purl.obolibrary.org/obo/GO_0042135		
RO:0002161	biolink:NamedThing	never in taxon		RO:0002161	mondo.json		http://purl.obolibrary.org/obo/RO_0002161		
RO:0002162	biolink:NamedThing	in taxon	x is in taxon y if an only if y is an organism, and the relationship between x and y is one of: part of (reflexive), developmentally preceded by, derives from, secreted by, expressed.	RO:0002162	mondo.json		http://purl.obolibrary.org/obo/RO_0002162		
RO:0002163	biolink:NamedThing	spatially disjoint from	A is spatially_disjoint_from B if and only if they have no parts in common		mondo.json		http://purl.obolibrary.org/obo/RO_0002163		
GO:0005183	biolink:NamedThing	gonadotropin hormone-releasing hormone activity	The action characteristic of gonadotropin hormone-releasing hormone (GnRH), any of a family of decapeptide amide hormones that are released by the hypothalamus in response to neural and/or chemical stimuli. In at least mammals, upon receptor binding, GnRH causes the release of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) by the anterior pituitary.		mondo.json	LH/FSH-RF|gonadotrophin hormone-releasing hormone activity|luteinizing hormone/follicle-stimulating hormone releasing factor activity|GnRH activity|luteinizing hormone-releasing hormone activity|luteinizing hormone-releasing factor activity|LHRH activity	http://purl.obolibrary.org/obo/GO_0005183		
PATO:0002318	biolink:NamedThing	superelliptic	A shape constituting a transition between a rectangle and a circle; a closed curve, of which the circle and ellipse are special cases, whose parametric equation is x = a.cos2/rt, y = b.cos2/rt		mondo.json	Lamé curve	http://purl.obolibrary.org/obo/PATO_0002318		
RO:0002158	biolink:NamedThing	shares ancestor with	two individual entities d1 and d2 stand in a shares_ancestor_with relation if and only if there exists some a such that d1 derived_by_descent_from a and d2 derived_by_descent_from a.		mondo.json		http://purl.obolibrary.org/obo/RO_0002158		
GO:0032786	biolink:NamedThing	positive regulation of DNA-templated transcription, elongation	Any process that activates or increases the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides catalyzed by a DNA-dependent RNA polymerase.		mondo.json	up-regulation of RNA elongation|positive regulation of transcription elongation, DNA-dependent|positive regulation of DNA-dependent transcription, elongation|positive regulation of transcriptional elongation|stimulation of RNA elongation|activation of RNA elongation|upregulation of RNA elongation|positive regulation of transcription elongation|positive transcription elongation regulator activity|up regulation of RNA elongation	http://purl.obolibrary.org/obo/GO_0032786		
GO:0032785	biolink:NamedThing	negative regulation of DNA-templated transcription, elongation	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides catalyzed by a DNA-dependent RNA polymerase.		mondo.json	negative regulation of transcriptional elongation|downregulation of RNA elongation|negative regulation of transcription elongation, DNA-dependent|down regulation of RNA elongation|negative regulation of DNA-dependent transcription, elongation|negative regulation of transcription elongation|down-regulation of RNA elongation|inhibition of RNA elongation|negative transcription elongation regulator activity	http://purl.obolibrary.org/obo/GO_0032785		
UBERON:5102389	biolink:AnatomicalEntity	manual digit digitopodial skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_5102389		
GO:0032784	biolink:NamedThing	regulation of DNA-templated transcription elongation	Any process that modulates the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides catalyzed by a DNA-dependent RNA polymerase.		mondo.json	regulation of RNA elongation|transcription elongation regulator activity|regulation of transcription elongation, DNA-dependent|regulation of DNA-dependent transcription, elongation|regulation of transcriptional elongation|regulation of DNA-templated transcription, elongation	http://purl.obolibrary.org/obo/GO_0032784		
GO:0017168	biolink:NamedThing	5-oxoprolinase (ATP-hydrolyzing) activity	Catalysis of the reaction: 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate.		mondo.json	5-oxo-L-proline amidohydrolase (ATP-hydrolysing)|pyroglutamase activity|pyroglutamase (ATP-hydrolysing)|5-oxo-L-prolinase activity|5-oxoprolinase activity|L-pyroglutamate hydrolase activity|pyroglutamate hydrolase activity|pyroglutamic hydrolase activity|pyroglutamase (ATP-hydrolyzing) activity|5-oxoprolinase (ATP-hydrolysing)|oxoprolinase activity|5-OPase activity	http://purl.obolibrary.org/obo/GO_0017168		
GO:0032782	biolink:NamedThing	bile acid secretion	The regulated release of bile acid, composed of any of a group of steroid carboxylic acids occurring in bile, by a cell or a tissue.		mondo.json		http://purl.obolibrary.org/obo/GO_0032782		
GO:0032781	biolink:NamedThing	positive regulation of ATP-dependent activity	Any process that activates or increases the rate of an ATP-dependent activity.		mondo.json	positive regulation of adenosinetriphosphatase activity|up-regulation of ATPase activity|up regulation of ATPase activity|activation of ATPase activity|positive regulation of ATPase activity|stimulation of ATPase activity|upregulation of ATPase activity	http://purl.obolibrary.org/obo/GO_0032781		
GO:0032780	biolink:NamedThing	negative regulation of ATP-dependent activity	Any process that stops or reduces the rate of an ATP-dependent activity.		mondo.json	down regulation of ATPase activity|downregulation of ATPase activity|inhibition of ATPase activity|negative regulation of adenosinetriphosphatase activity|negative regulation of ATPase activity|down-regulation of ATPase activity	http://purl.obolibrary.org/obo/GO_0032780		
FOODON:03411237	biolink:NamedThing	shrimp			mondo.json		http://purl.obolibrary.org/obo/FOODON_03411237		
NCBITaxon:1511862	biolink:OrganismalEntity	Carnivore amdoparvovirus 1		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1511862		
RO:0002156	biolink:NamedThing	derived by descent from	d derived_by_descent_from a if d is specified by some genetic program that is sequence-inherited-from a genetic program that specifies a.		mondo.json		http://purl.obolibrary.org/obo/RO_0002156		
RO:0002157	biolink:NamedThing	has derived by descendant	inverse of derived by descent from		mondo.json		http://purl.obolibrary.org/obo/RO_0002157		
RO:0002150	biolink:NamedThing	continuous with	X continuous_with Y if and only if X and Y share a fiat boundary.		mondo.json		http://purl.obolibrary.org/obo/RO_0002150		
GO:0032774	biolink:NamedThing	RNA biosynthetic process	The chemical reactions and pathways resulting in the formation of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. Includes polymerization of ribonucleotide monomers. Refers not only to transcription but also to e.g. viral RNA replication.		mondo.json	dsRNA biosynthetic process|double-stranded RNA biosynthetic process|dsRNA biosynthesis|double-stranded RNA biosynthesis|RNA synthesis|RNA biosynthesis|RNA formation|RNA anabolism	http://purl.obolibrary.org/obo/GO_0032774		
GO:0032770	biolink:NamedThing	positive regulation of monooxygenase activity	Any process that activates or increases the activity of a monooxygenase.		mondo.json	up regulation of monooxygenase activity|stimulation of monooxygenase activity|up-regulation of monooxygenase activity|activation of monooxygenase activity|upregulation of monooxygenase activity	http://purl.obolibrary.org/obo/GO_0032770		
MONDO:0020492	biolink:Disease	hemimegalencephaly	Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy.	UMLS:C0431391|ICD9:742.4|GARD:0002637|Orphanet:99802|MESH:D065705|SCTID:253170008	mondo.json	macrencephaly|unilateral megalencephaly	http://purl.obolibrary.org/obo/MONDO_0020492	UMLS:C0431391|http://identifiers.org/mesh/D065705|http://identifiers.org/snomedct/253170008|Orphanet:99802	gard_rare|ordo_malformation_syndrome
MONDO:0020491	biolink:Disease	subcortical band heterotopia	A developmental brain abnormality characterized by atypical migration of neurons during cortical development.	Orphanet:99796|DOID:0111169|UMLS:C4284594|GARD:0001904|GARD:0002250|NCIT:C116933|UMLS:C1848201|OMIM:607432	mondo.json	band heterotopia|familial band heterotopia|double cortex syndrome|heterotopic cortex|Double cortex|HeCo|subcortical laminar heterotopia	http://purl.obolibrary.org/obo/MONDO_0020491	UMLS:C1848201|Orphanet:99796|UMLS:C4284594|DOID:0111169|NCIT:C116933	gard_rare|ordo_morphological_anomaly
MONDO:0020490	biolink:Disease	mosaic trisomy 9	Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person.	SCTID:764989007|UMLS:CN035918|Orphanet:99776|MESH:C535454|GARD:0000043	mondo.json	Mosaic trisomy type 9|trisomy 9 mosaicism|Mosaic trisomy chromosome 9	http://purl.obolibrary.org/obo/MONDO_0020490	http://identifiers.org/snomedct/764989007|UMLS:CN035918|Orphanet:99776|http://identifiers.org/mesh/C535454	gard_rare|ordo_malformation_syndrome
GO:0032769	biolink:NamedThing	negative regulation of monooxygenase activity	Any process that stops or reduces the activity of a monooxygenase.		mondo.json	down regulation of monooxygenase activity|inhibition of monooxygenase activity|down-regulation of monooxygenase activity|downregulation of monooxygenase activity	http://purl.obolibrary.org/obo/GO_0032769		
GO:0032768	biolink:NamedThing	regulation of monooxygenase activity	Any process that modulates the activity of a monooxygenase.		mondo.json		http://purl.obolibrary.org/obo/GO_0032768		
GO:0030103	biolink:NamedThing	vasopressin secretion	The regulated release of vasopressin from secretory granules into the blood.		mondo.json		http://purl.obolibrary.org/obo/GO_0030103		
GO:0030104	biolink:NamedThing	water homeostasis	Any process involved in the maintenance of an internal steady state of water within an organism or cell.		mondo.json	regulation of osmotic pressure|osmoregulation	http://purl.obolibrary.org/obo/GO_0030104		
MONDO:0020499	biolink:Disease	Nipah virus disease	Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness.	UMLS:CN207389|DOID:0050192|Orphanet:99825	mondo.json	Nipah virus infectious disease|Nipah fever|Nipah encephalitis	http://purl.obolibrary.org/obo/MONDO_0020499	UMLS:CN207389|Orphanet:99825	ordo_disease
GO:0042158	biolink:NamedThing	lipoprotein biosynthetic process	The chemical reactions and pathways resulting in the formation of any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids.		mondo.json	lipoprotein biosynthesis|lipoprotein anabolism|lipoprotein synthesis|lipoprotein formation	http://purl.obolibrary.org/obo/GO_0042158		
MONDO:0020498	biolink:Disease	obsolete Lassa fever			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020498		
MONDO:0020497	biolink:Disease	Turcot syndrome with polyposis	Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions.	UMLS:CN207386|OMIM:175100|Orphanet:99818	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020497	Orphanet:99818|UMLS:CN207386	ordo_clinical_subtype
GO:0042157	biolink:NamedThing	lipoprotein metabolic process	The chemical reactions and pathways involving any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids.		mondo.json	lipoprotein metabolism	http://purl.obolibrary.org/obo/GO_0042157		
MONDO:0020496	biolink:Disease	familial porencephaly	An instance of porencephaly that is caused by an inherited modification of the individual's genome.	OMIMPS:175780|GARD:0002258|Orphanet:99810	mondo.json	familial porencephalic white matter disease|hereditary porencephaly	http://purl.obolibrary.org/obo/MONDO_0020496	https://omim.org/phenotypicSeries/PS175780|Orphanet:99810	ordo_etiological_subtype|gard_rare
OBO:chebi#is_conjugate_acid_of	biolink:NamedThing	is conjugate acid of			mondo.json		http://purl.obolibrary.org/obo/chebi#is_conjugate_acid_of		
MONDO:0020495	biolink:Disease	PEHO-like syndrome	PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.	OMIM:617507|Orphanet:99807	mondo.json	PEHOL|progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome|peho-like syndrome|PEHO syndrome-like	http://purl.obolibrary.org/obo/MONDO_0020495	Orphanet:99807|https://omim.org/entry/617507	ordo_disease
MONDO:0020494	biolink:Disease	oculootodental syndrome	Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.	Orphanet:99806|UMLS:C2750325	mondo.json	OOD	http://purl.obolibrary.org/obo/MONDO_0020494	UMLS:C2750325|Orphanet:99806	ordo_malformation_syndrome
MONDO:0020493	biolink:Disease	Haddad syndrome	Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease.	ICD10CM:G47.3|Orphanet:99803|SCTID:719972004	mondo.json	ondine-Hirschsprung syndrome|ondine-Hirschsprung disease|Haddad syndrome|congenital central alveolar hypoventilation-Hirschsprung disease syndrome	http://purl.obolibrary.org/obo/MONDO_0020493	http://identifiers.org/snomedct/719972004|Orphanet:99803	ordo_malformation_syndrome
GO:0017148	biolink:NamedThing	negative regulation of translation	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.		mondo.json	downregulation of protein biosynthetic process|negative regulation of protein anabolism|down regulation of protein biosynthetic process|negative regulation of protein synthesis|inhibition of protein biosynthetic process|protein biosynthetic process inhibitor activity|negative regulation of protein biosynthesis|down-regulation of protein biosynthetic process|protein biosynthesis inhibitor activity|negative regulation of protein biosynthetic process|negative regulation of protein formation	http://purl.obolibrary.org/obo/GO_0017148		
GO:0017145	biolink:NamedThing	stem cell division	The self-renewing division of a stem cell. A stem cell is an undifferentiated cell, in the embryo or adult, that can undergo unlimited division and give rise to one or several different cell types.		mondo.json	stem cell renewal	http://purl.obolibrary.org/obo/GO_0017145		
GO:0017144	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0017144		
GO:0030100	biolink:NamedThing	regulation of endocytosis	Any process that modulates the frequency, rate or extent of endocytosis.		mondo.json		http://purl.obolibrary.org/obo/GO_0030100		
UBERON:0006919	biolink:AnatomicalEntity	tongue squamous epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006919		
UBERON:0006916	biolink:AnatomicalEntity	non-keratinized epithelium of tongue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006916		
UBERON:0006915	biolink:AnatomicalEntity	stratified squamous epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006915		
UBERON:0006914	biolink:AnatomicalEntity	squamous epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006914		
RO:0002134	biolink:NamedThing	innervates	Relation between a 'neuron projection bundle' and a region in which one or more of its component neuron projections either synapses to targets or receives synaptic input. T innervates some R Expands_to: T has_fasciculating_neuron_projection that synapse_in some R.		mondo.json		http://purl.obolibrary.org/obo/RO_0002134		
GO:0042165	biolink:NamedThing	neurotransmitter binding	Binding to a neurotransmitter, any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0042165		
RO:0002131	biolink:NamedThing	overlaps	A overlaps B if they share some part in common.		mondo.json		http://purl.obolibrary.org/obo/RO_0002131		
GO:0017119	biolink:NamedThing	Golgi transport complex	A  multisubunit tethering complex of the CATCHR family (complexes associated with tethering containing helical rods) that has a role in tethering vesicles to the Golgi prior to fusion. Composed of 8 subunits COG1-8.		mondo.json	Sec34/35 complex|conserved oligomeric Golgi complex|COG complex	http://purl.obolibrary.org/obo/GO_0017119		
NCBITaxon:91061	biolink:OrganismalEntity	Bacilli		GC_ID:11	mondo.json	Bacillus/Lactobacillus/Streptococcus group|Firmibacteria	http://purl.obolibrary.org/obo/NCBITaxon_91061		
UBERON:0006924	biolink:AnatomicalEntity	stomach glandular epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006924		
GO:0017111	biolink:NamedThing	ribonucleoside triphosphate phosphatase activity	Catalysis of the reaction: a ribonucleoside triphosphate + H2O = a ribonucleoside diphosphate + H+ + phosphate.		mondo.json	NTPase activity|nucleoside triphosphate phosphatase activity|nucleoside-5-triphosphate phosphohydrolase activity|nucleoside triphosphatase activity|nucleoside triphosphate phosphohydrolase activity|nucleoside 5-triphosphatase activity|nucleoside triphosphate hydrolase activity|apyrase activity|nucleoside-triphosphatase activity	http://purl.obolibrary.org/obo/GO_0017111		
UBERON:0006923	biolink:AnatomicalEntity	vagina squamous epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006923		
UBERON:0006922	biolink:AnatomicalEntity	cervix squamous epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006922		
UBERON:0006921	biolink:AnatomicalEntity	stomach squamous epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006921		
UBERON:0006920	biolink:AnatomicalEntity	esophagus squamous epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006920		
UBERON:0006909	biolink:AnatomicalEntity	lumen of digestive tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006909		
UBERON:0006905	biolink:AnatomicalEntity	mandibular process mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006905		
UBERON:0006904	biolink:AnatomicalEntity	head mesenchyme from mesoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006904		
RO:0002120	biolink:NamedThing	synapsed to	 Relation between a neuron and an anatomical structure (including cells) that it chemically synapses to.         		mondo.json		http://purl.obolibrary.org/obo/RO_0002120		
UBERON:0006913	biolink:AnatomicalEntity	lip epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006913		
MONDO:0032485	biolink:Disease	intellectual developmental disorder 61		OMIM:618009	mondo.json	INTELLECTUAL DEVELOPMENTAL DISORDER 61|MRD61|Mental Retardation, Autosomal Dominant 61	http://purl.obolibrary.org/obo/MONDO_0032485	https://omim.org/entry/618009	
GO:0042181	biolink:NamedThing	ketone biosynthetic process	The chemical reactions and pathways resulting in the formation of ketones, a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups.		mondo.json	ketone formation|ketone anabolism|ketone synthesis|ketone biosynthesis	http://purl.obolibrary.org/obo/GO_0042181		
GO:0042180	biolink:NamedThing	cellular ketone metabolic process	The chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms, as carried out by individual cells. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups.		mondo.json	ketone metabolism	http://purl.obolibrary.org/obo/GO_0042180		
HGNC:20577	biolink:NamedThing	CYP26C1			mondo.json		http://identifiers.org/hgnc/20577		
RO:0002103	biolink:NamedThing	synapsed by	Relation between an anatomical structure (including cells) and a neuron that chemically synapses to it. 		mondo.json		http://purl.obolibrary.org/obo/RO_0002103		
RO:0002104	biolink:NamedThing	has plasma membrane part	Holds between a cell c and a protein complex or protein p if and only if that cell has as part a plasma_membrane[GO:0005886], and that plasma membrane has p as part.		mondo.json		http://purl.obolibrary.org/obo/RO_0002104		
GO:0019751	biolink:NamedThing	polyol metabolic process	The chemical reactions and pathways involving a polyol, any alcohol containing three or more hydroxyl groups attached to saturated carbon atoms.		mondo.json	polyhydric alcohol metabolic process|polyol metabolism	http://purl.obolibrary.org/obo/GO_0019751		
GO:0019752	biolink:NamedThing	carboxylic acid metabolic process	The chemical reactions and pathways involving carboxylic acids, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-).		mondo.json	carboxylic acid metabolism	http://purl.obolibrary.org/obo/GO_0019752		
FOODON:03411201	biolink:NamedThing	dairy cow	A dairy cow is an adult female member of a dairy cattle breed		mondo.json		http://purl.obolibrary.org/obo/FOODON_03411201		
GO:0005125	biolink:NamedThing	cytokine activity	The activity of a soluble extracellular gene product that interacts with a receptor to effect a change in the activity of the receptor to control the survival, growth, differentiation and effector function of tissues and cells.		mondo.json	autocrine activity|paracrine activity	http://purl.obolibrary.org/obo/GO_0005125		
RO:0002100	biolink:NamedThing	has soma location	Relation between a neuron and an anatomical structure that its soma is part of.		mondo.json		http://purl.obolibrary.org/obo/RO_0002100		
HGNC:20580	biolink:NamedThing	CYP2R1			mondo.json		http://identifiers.org/hgnc/20580		
HGNC:20581	biolink:NamedThing	CYP26B1			mondo.json		http://identifiers.org/hgnc/20581		
HGNC:20582	biolink:NamedThing	CYP2U1			mondo.json		http://identifiers.org/hgnc/20582		
GO:0032729	biolink:NamedThing	positive regulation of interferon-gamma production	Any process that activates or increases the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon.		mondo.json	positive regulation of interferon-gamma secretion|positive regulation of interferon-gamma biosynthetic process|positive regulation of type II interferon production|up-regulation of interferon-gamma production|up regulation of interferon-gamma production|activation of interferon-gamma production|stimulation of interferon-gamma production|upregulation of interferon-gamma production	http://purl.obolibrary.org/obo/GO_0032729		
HGNC:32550	biolink:NamedThing	ZBTB42			mondo.json		http://identifiers.org/hgnc/32550		
CHEBI:59999	biolink:ChemicalSubstance	chemical substance	A chemical substance is a portion of matter of constant composition, composed of molecular entities of the same type or of different types.		mondo.json	Chemische Substanz	http://purl.obolibrary.org/obo/CHEBI_59999		
FOODON:03460225	biolink:NamedThing	food component addition process		http://www.langual.org/langual_thesaurus.asp?termid=H0225	mondo.json		http://purl.obolibrary.org/obo/FOODON_03460225		
NBO:0000339	biolink:NamedThing	motor coordination	"The coordination of combinations of body movements created with the kinematic (such as spatial direction) and kinetic (force) parameters that result in intended actions." [wikipedia:Motor_coordination]		mondo.json		http://purl.obolibrary.org/obo/NBO_0000339		
MONDO:0019450	biolink:Disease	lissencephaly with cerebellar hypoplasia	Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.	SCTID:715817007|Orphanet:86823|UMLS:C4274995	mondo.json	LCH	http://purl.obolibrary.org/obo/MONDO_0019450	UMLS:C4274995|http://identifiers.org/snomedct/715817007|Orphanet:86823	disease_grouping|ordo_group_of_disorders
NBO:0000338	biolink:NamedThing	kinesthetic behavior	"Movement behavior of the body or its parts."		mondo.json		http://purl.obolibrary.org/obo/NBO_0000338		
MONDO:0007469	biolink:Disease	double nail for fifth toe		OMIM:126500|GARD:0009672|MESH:C565090	mondo.json	double nail for fifth toe|Double nails on the fifth toe|fifth toe, double nails	http://purl.obolibrary.org/obo/MONDO_0007469	https://omim.org/entry/126500|http://identifiers.org/mesh/C565090	gard_rare
FOODON:03411297	biolink:NamedThing	vertebrate animal	A vertebrate animal is any species of organism within the subphylum Vertebrata (chordates with backbones). Vertebrates represent the overwhelming majority of the phylum Chordata, with currently about 69,276 species described.		mondo.json	animal	http://purl.obolibrary.org/obo/FOODON_03411297		
MONDO:0020445	biolink:Disease	agenesis of the superior vena cava	Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome.	Orphanet:99114|ICD9:747.49|SCTID:204464007	mondo.json	agenesis of the SVC|agenesis of the superior caval vein|absence of the superior vena cava|absence of the SVC|absence of the superior caval vein	http://purl.obolibrary.org/obo/MONDO_0020445	Orphanet:99114|http://identifiers.org/snomedct/204464007	ordo_morphological_anomaly
MONDO:0007467	biolink:Disease	DNA, low-repetitive sequences of		OMIM:126390	mondo.json	repetitive sequence DNA|DNA, low-repetitive sequences of	http://purl.obolibrary.org/obo/MONDO_0007467	https://omim.org/entry/126390	
MONDO:0007468	biolink:Disease	obsolete DNA, satellite, alpha type		OMIM:126410	mondo.json	DNA, satellite, alpha type	http://purl.obolibrary.org/obo/MONDO_0007468	https://omim.org/entry/126410	
MONDO:0020444	biolink:Disease	subaortic course of innominate vein	Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated.	SCTID:766756002|Orphanet:99113	mondo.json	subaortic course of brachiocephalic vein	http://purl.obolibrary.org/obo/MONDO_0020444	Orphanet:99113|http://identifiers.org/snomedct/766756002	ordo_morphological_anomaly
MONDO:0020443	biolink:Disease	absence of innominate vein	Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases.	Orphanet:99112	mondo.json	absence of brachiocephalic vein	http://purl.obolibrary.org/obo/MONDO_0020443	Orphanet:99112	ordo_morphological_anomaly
MONDO:0007465	biolink:Disease	distichiasis with congenital anomalies of the heart and peripheral vasculature		Orphanet:1683|MESH:C565092|UMLS:C1852062|OMIM:126320	mondo.json	distichiasis-congenital heart defects-peripheral vascular anomalies syndrome|distichiasis with congenital anomalies of the heart and peripheral vasculature	http://purl.obolibrary.org/obo/MONDO_0007465	UMLS:C1852062|https://omim.org/entry/126320|http://identifiers.org/mesh/C565092|Orphanet:1683	
MONDO:0020442	biolink:Disease	left superior vena cava persisting to left-sided atrium		SCTID:445436005|ICD9:747.49|Orphanet:99111	mondo.json	left superior caval vein persisting to left-sided atrium|left SVC persisting to left-sided atrium	http://purl.obolibrary.org/obo/MONDO_0020442	Orphanet:99111|http://identifiers.org/snomedct/445436005	ordo_morphological_anomaly
MONDO:0007466	biolink:Disease	DNA, satellite, 3		OMIM:126370	mondo.json	HS3|DNA, satellite, type 3|D1Z1|DNA, satellite, III	http://purl.obolibrary.org/obo/MONDO_0007466	https://omim.org/entry/126370	
FOODON:00003374	biolink:NamedThing	harvested food material	Organic food material that has been harvested.		mondo.json		http://purl.obolibrary.org/obo/FOODON_00003374		
MONDO:0020441	biolink:Disease	right superior vena cava connecting to left-sided atrium	Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported.	Orphanet:99110	mondo.json	right SVC connecting to left-sided atrium|right superior caval vein connecting to left-sided atrium	http://purl.obolibrary.org/obo/MONDO_0020441	Orphanet:99110	ordo_morphological_anomaly
MONDO:0007463	biolink:Disease	distal osteosclerosis		OMIM:126250|UMLS:C1852063|MESH:C565093	mondo.json	osteosclerosis, distal|distal osteosclerosis	http://purl.obolibrary.org/obo/MONDO_0007463	UMLS:C1852063|https://omim.org/entry/126250|http://identifiers.org/mesh/C565093	
MONDO:0007464	biolink:Disease	obsolete isolated distichiasis	OBSOLETE. Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated.	SCTID:95339000|ICD9:743.63|OMIM:126300|Orphanet:99177	mondo.json	eyelashes, two rows of|distichiasis	http://purl.obolibrary.org/obo/MONDO_0007464	https://omim.org/entry/126300|Orphanet:99177|http://identifiers.org/snomedct/95339000	ordo_morphological_anomaly
MONDO:0020440	biolink:Disease	persistent left superior vena cava connecting to the left-sided atrium	Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated.	Orphanet:99109	mondo.json	left superior caval vein persisting to the left-sided atrium|persistent left SVC connecting to the left-sided atrium|persistent left superior caval vein connecting to the left-sided atrium	http://purl.obolibrary.org/obo/MONDO_0020440	Orphanet:99109	ordo_morphological_anomaly
MONDO:0007461	biolink:Disease	short stature-valvular heart disease-characteristic facies syndrome	Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.	Orphanet:2868|MESH:C565094|OMIM:126190|UMLS:C1852073	mondo.json	disproportionate short stature with ptosis and valvular heart lesions	http://purl.obolibrary.org/obo/MONDO_0007461	https://omim.org/entry/126190|Orphanet:2868|http://identifiers.org/mesh/C565094|UMLS:C1852073	ordo_malformation_syndrome
MONDO:0007462	biolink:Disease	multiple sclerosis, susceptibility to		OMIMPS:126200	mondo.json	disseminated sclerosis|MS	http://purl.obolibrary.org/obo/MONDO_0007462	https://omim.org/phenotypicSeries/PS126200	predisposition|prototype_pattern
GO:0044706	biolink:NamedThing	multi-multicellular organism process	A multicellular organism process which involves another multicellular organism of the same or different species.		mondo.json		http://purl.obolibrary.org/obo/GO_0044706		
MONDO:0007460	biolink:Disease	discrimination, Two-point, reduction 1N		OMIM:126180	mondo.json	discrimination, TWO-point, reduction IN|discrimination, Two-point, reduction type 1N|sensory discrimination	http://purl.obolibrary.org/obo/MONDO_0007460	https://omim.org/entry/126180	
MONDO:0020439	biolink:Disease	patent foramen ovale	A persistent opening in the atrial septum after birth. While a normal part of fetal circulation, the foramen ovale should close once the newborn begins breathing and the pressure in the left atrium exceeds that of the right atrium. While a PFO is generally asymptomatic, it can lead to the passage of clots from the venous circulation into the artierial circulation, resulting in paradoxical emboli, and possible strokes.	DOID:13620|MESH:D054092|UMLS:C0016522|Orphanet:99108|HP:0001655|NCIT:C34619|MedDRA:10016982	mondo.json	atrial septal defect within oval fossa|ostium secundum type atrial septal defect|patent foramen ovale|patent foramen ovale (disease)|defect, patent or persistent, ostium secundum|persistent ostium secundum|foramen ovale patent	http://purl.obolibrary.org/obo/MONDO_0020439	UMLS:C0016522|Orphanet:99108|http://identifiers.org/mesh/D054092|NCIT:C34619|DOID:13620	ordo_morphological_anomaly
MONDO:0020438	biolink:Disease	atrial septal aneurysm		SCTID:95440004|UMLS:C0521533|Orphanet:99107	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020438	UMLS:C0521533|http://identifiers.org/snomedct/95440004|Orphanet:99107	ordo_morphological_anomaly
MONDO:0020437	biolink:Disease	atrial septal defect, ostium primum type	Atrioventricular septal defect with communication at the atrial level only.	GARD:0010695|MESH:C548006|MESH:D006344|Orphanet:99106|UMLS:C0031192|SCTID:17718000	mondo.json	ASD ostium primum type|partial atrioventricular septal defect: ostium primum type|PAVSD|partial atrioventricular septal defect|primum atrial septal defect|atrioventricular defect with atrial shunting only|ASD, ostium primum type|incomplete atrioventricular canal defect with isolated atrial component|atrial septal defect ostium primum|PAVC|incomplete atrioventricular septal defect with isolated atrial component|partial atrioventricular canal defect with isolated atrial component|ostium primum ASD	http://purl.obolibrary.org/obo/MONDO_0020437	UMLS:C0031192|Orphanet:99106|http://identifiers.org/snomedct/17718000|http://identifiers.org/mesh/D006344	ordo_clinical_subtype
GO:0044703	biolink:NamedThing	multi-organism reproductive process	A biological process that directly contributes to the process of producing new individuals, involving another organism.		mondo.json		http://purl.obolibrary.org/obo/GO_0044703		
MONDO:0019459	biolink:Disease	obsolete myeloid sarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019459		
MONDO:0020436	biolink:Disease	atrial septal defect, sinus venosus type		MESH:C548009|GARD:0010696|SCTID:95268002|Orphanet:99105	mondo.json	ASD, sinus venosus type|atrial septal defect sinus venosus|sinus venosus ASD|sinus venosus atrial septal defects	http://purl.obolibrary.org/obo/MONDO_0020436	http://identifiers.org/snomedct/95268002|Orphanet:99105|http://identifiers.org/mesh/C548009	ordo_clinical_subtype
MONDO:0044406	biolink:Disease	arthrogryposis-ectodermal dysplasia-other anomalies syndrome		OMIM:601701|GARD:0005029|Orphanet:3200	mondo.json	Stoll-Alembik-Finck syndrome	http://purl.obolibrary.org/obo/MONDO_0044406	Orphanet:3200	ordo_malformation_syndrome
MONDO:0020435	biolink:Disease	atrial septal defect, coronary sinus type		ICD9:746.89|SCTID:40272001|GARD:0010697|Orphanet:99104	mondo.json	atrial septal defect coronary sinus|unroofed coronary sinus|ASD coronary sinus|coronary sinus atrial septal defects|ASD, coronary sinus type	http://purl.obolibrary.org/obo/MONDO_0020435	http://identifiers.org/snomedct/40272001|Orphanet:99104	gard_rare|ordo_clinical_subtype
MONDO:0019456	biolink:Disease	acute myeloid leukemia with multilineage dysplasia	An acute myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia.	UMLS:C1292773|SCTID:445448008|ICDO:9895/3|NCIT:C9289|Orphanet:86845|GARD:0012761	mondo.json	AML with multilineage dysplasia|De novo acute myeloid leukemia with multilineage dysplasia|AML with myelodysplasia-related features|acute myeloid leukaemia with myelodysplasia-related features	http://purl.obolibrary.org/obo/MONDO_0019456	UMLS:C1292773|NCIT:C9289|Orphanet:86845|http://identifiers.org/snomedct/445448008	ordo_disease
MONDO:0019455	biolink:Disease	acute panmyelosis with myelofibrosis	An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis.	SCTID:109991003|MedDRA:10000879|NCIT:C4344|UMLS:C0334674|ONCOTREE:APMF|ICDO:9931/3|Orphanet:86843|ICD9:289.89|GARD:0011907	mondo.json	acute myelodysplasia with myelofibrosis|acute myelosclerosis|APMF|acute (malignant) myelosclerosis|acute myelofibrosis|acute (malignant) myelofibrosis|acute panmyelosis	http://purl.obolibrary.org/obo/MONDO_0019455	NCIT:C4344|UMLS:C0334674|http://identifiers.org/snomedct/109991003|Orphanet:86843	ordo_disease|gard_rare
MONDO:0019458	biolink:Disease	acute basophilic leukemia	A rare acute myeloid leukemia in which the immature cells differentiate towards basophils.	UMLS:C0221292|MESH:D015471|NCIT:C3164|Orphanet:86849|ONCOTREE:ABL|EFO:0003029|UMLS:C0023437|SCTID:307592006|ICDO:9870/3	mondo.json	basophilic leukemia|leukemia basophilic	http://purl.obolibrary.org/obo/MONDO_0019458	UMLS:C0221292|UMLS:C0023437|http://identifiers.org/snomedct/307592006|NCIT:C3164|http://identifiers.org/mesh/D015471|Orphanet:86849	ordo_disease
MONDO:0019457	biolink:Disease	therapy related acute myeloid leukemia and myelodysplastic syndrome	An acute myeloid leukemia secondary to a myelodysplastic syndrome or therapy-related. (WHO, 2001)	SCTID:721306009|NCIT:C25765|Orphanet:86846|GARD:0012762	mondo.json	Secondary Acute myeloid Leukemia (AML)|secondary acute myeloid leukemia|Secondary Acute myeloblastic Leukemia|Secondary Acute granulocytic Leukemia|Secondary Acute myelogenous Leukemia|Secondary Acute myelocytic Leukemia|Secondary AGL|therapy-related AML and myelodysplastic syndrome|secondary AML	http://purl.obolibrary.org/obo/MONDO_0019457	NCIT:C25765|http://identifiers.org/snomedct/721306009|Orphanet:86846	disease_grouping|gard_rare|ordo_group_of_disorders
MONDO:0019452	biolink:Disease	myeloproliferative neoplasm, unclassifiable	This subgroup of myeloproliferative neoplasms includes cases which do not meet the morphologic criteria of any of the defined myeloproliferative neoplasms, or which have characteristics that overlap at least two of the myeloproliferative neoplasms.	NCIT:C27350|ICDO:9975/3|UMLS:C1333046|Orphanet:86830	mondo.json	MPN, U|CMPD, U|MPN-U|myeloproliferative neoplasm, unclassifiable|chronic myeloproliferative disease, unclassifiable|chronic myeloproliferative disorder, unclassifiable|unclassifiable chronic myeloproliferative disease|unclassifiable chronic myeloproliferative disorder|undifferentiated myeloproliferative disease|CMPD-U	http://purl.obolibrary.org/obo/MONDO_0019452	UMLS:C1333046|Orphanet:86830|NCIT:C27350	ordo_disease
MONDO:0019451	biolink:Disease	chronic neutrophilic leukemia	A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene.	Orphanet:86829|NCIT:C3179|UMLS:C0023481|EFO:1000179|MESH:D015467|SCTID:188734009|GARD:0010585|ICDO:9963/3|DOID:0080187|ONCOTREE:CNL|UMLS:C0474856	mondo.json	chronic neutrophilic leukemia|neutrophilic leukemia|CNL	http://purl.obolibrary.org/obo/MONDO_0019451	NCIT:C3179|http://identifiers.org/mesh/D015467|DOID:0080187|Orphanet:86829|http://identifiers.org/snomedct/188734009|UMLS:C0023481|UMLS:C0474856	gard_rare|ordo_disease
MONDO:0019454	biolink:Disease	myelodysplastic syndrome with excess blasts	A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: myelodysplastic syndrome with excess blasts-1 and myelodysplastic syndrome with excess blasts-2.	ICDO:9983/3|MESH:D000754|Orphanet:86839|MedDRA:10038270|UMLS:C0002894|EFO:0003811|NCIT:C7506|SCTID:398623004	mondo.json	refractory Anemia with Excess blasts|MDS-EB|RAEB|myelodysplastic syndrome with Excess blasts|refractory Anemia with an Excess of blasts	http://purl.obolibrary.org/obo/MONDO_0019454	UMLS:C0002894|http://identifiers.org/snomedct/398623004|Orphanet:86839|http://identifiers.org/mesh/D000754|NCIT:C7506	ordo_disease
MONDO:0019453	biolink:Disease	myelodysplastic syndrome with multilineage dysplasia	Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages.	MedDRA:10067959|ICDO:9985/3|Orphanet:86836|ICD9:238.72|SCTID:415285009|NCIT:C8574|ICD10CM:D46.A|UMLS:C0796466	mondo.json	RCMD|MDS-MLD|refractory cytopenia with multilineage dysplasia	http://purl.obolibrary.org/obo/MONDO_0019453	UMLS:C0796466|Orphanet:86836|NCIT:C8574|http://purl.bioontology.org/ontology/ICD10CM/D46.A|http://identifiers.org/snomedct/415285009	disease_grouping|ordo_group_of_disorders
NBO:0000347	biolink:NamedThing	gross motor coordination	"The coordination of large muscle groups and whole body movement." [NBO:GVG]		mondo.json	whole body coordination|large muscle coordination	http://purl.obolibrary.org/obo/NBO_0000347		
HGNC:32528	biolink:NamedThing	PRCD			mondo.json		http://identifiers.org/hgnc/32528		
MONDO:0020434	biolink:Disease	atrial septal defect, ostium secundum type		MedDRA:10031303|MedDRA:10031302|GARD:0005865|Orphanet:99103	mondo.json	osASD|ASD ostium secundum type|ASD, ostium secundum type|ostium secundum atrial septal defect|ostium secundum ASD	http://purl.obolibrary.org/obo/MONDO_0020434	Orphanet:99103	ordo_clinical_subtype
MONDO:0007478	biolink:Disease	autosomal dominant Kenny-Caffey syndrome	An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones.	Orphanet:93325|NCIT:C130993|GARD:0000083|OMIM:127000|UMLS:CN031291	mondo.json	dwarfism, cortical thickening of tubular bones and transient hypocalcemia|Kenny syndrome|Kenny-Caffey syndrome, type 2|Kenny-Caffey syndrome, autosomal dominant|Kenny-Caffey syndrome type 2|KCS2|dwarfism, cortical thickening of tubular bones, and transient hypocalcemia	http://purl.obolibrary.org/obo/MONDO_0007478	NCIT:C130993|Orphanet:93325|UMLS:CN031291|https://omim.org/entry/127000	ordo_etiological_subtype|gard_rare
MONDO:0007479	biolink:Disease	dwarfism, Levi type		MESH:C565081|GARD:0006294|UMLS:C1851994|OMIM:127100	mondo.json	dwarfism, Levi type|dwarfism Levi's type|dwarfism Levi type|snub-nosed type of dwarfism	http://purl.obolibrary.org/obo/MONDO_0007479	UMLS:C1851994|http://identifiers.org/mesh/C565081|https://omim.org/entry/127100	gard_rare
MONDO:0020433	biolink:Disease	ectasia of the left appendage	Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure.	Orphanet:99102	mondo.json	dilatation of the left atrial appendage|ectasia of the left auricle|dilatation of the left appendage|dilatation of the left auricle|ectasia of the left atrial appendage	http://purl.obolibrary.org/obo/MONDO_0020433	Orphanet:99102	ordo_morphological_anomaly
GO:0044710	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0044710		
MONDO:0007476	biolink:Disease	familial Dupuytren contracture	Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared).	Orphanet:79142|OMIM:126900|SCTID:274142002|GARD:0012165	mondo.json	plantar fibromatosis, familial|plantar fibromas|Dupuytren contracture 1|Dupuytren contracture	http://purl.obolibrary.org/obo/MONDO_0007476	https://omim.org/entry/126900|Orphanet:79142|http://identifiers.org/snomedct/274142002	ordo_disease
MONDO:0020432	biolink:Disease	ectasia of the right atrial appendage	Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress.	Orphanet:99101	mondo.json	ectasia of the right atrial auricle|dilatation of the right atrial appendage|dilatation of the right atrial auricle	http://purl.obolibrary.org/obo/MONDO_0020432	Orphanet:99101	ordo_morphological_anomaly
MONDO:0020431	biolink:Disease	juxtaposition of the atrial appendages	Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases.	Orphanet:99100	mondo.json	juxtaposition of the atrial auricles	http://purl.obolibrary.org/obo/MONDO_0020431	Orphanet:99100	ordo_morphological_anomaly
MONDO:0007477	biolink:Disease	3-M syndrome	3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.	ICD9:756.59|DOID:0060241|Orphanet:2616|OMIMPS:273750|OMIM:126950|MESH:C535314|SCTID:702342007|GARD:0005667	mondo.json	three M syndrome 1|dolichospondylic dysplasia|dwarfism with tall vertebrae|Miller-McKusick-Malvaux syndrome|Le Merrer syndrome|3-MSBN|gloomy face syndrome|gloomy face syndrome Yakut short stature syndrome, included|3-M syndrome|three-M slender-boned nanism|Yakut short stature syndrome|3M syndrome|three M syndrome|Dolichospondylic dysplasia|3M1	http://purl.obolibrary.org/obo/MONDO_0007477	https://omim.org/phenotypicSeries/PS273750|Orphanet:2616|http://identifiers.org/snomedct/702342007|http://identifiers.org/mesh/C535314|DOID:0060241	ordo_malformation_syndrome|prototype_pattern
MONDO:0007474	biolink:Disease	duodenal ulcer due to antral G-cell hyperfunction		GARD:0009743|OMIM:126840|MESH:C535721|UMLS:C1852009	mondo.json	duodenal ulcer due to antral G-cell hyperfunction|hypergastrinemic, hyperpepsinogenemic duodenal ulcer	http://purl.obolibrary.org/obo/MONDO_0007474	https://omim.org/entry/126840|http://identifiers.org/mesh/C535721|UMLS:C1852009	gard_rare
MONDO:0020430	biolink:Disease	cor triatriatum sinister	Cor triatriatum sinister (CTS) results when the left atrium is divided into two compartments by a membrane. The membrane can vary in size and shape and may have one or more openings. Severe cases of cor triatriatum sinister usually present in infancy and are often associated with other heart defects. In less severe cases, the diagnosis may not be made until later in life. The specific symptoms depend on the degree to which the membrane obstructs the flow of blood and whether or not there are additional heart defects. Symptoms may range from mild shortness of breath during exercise to signs of heart failure and lung congestion. Some people with CTS may not have symptoms. Treatment varies according to the severity of the symptoms. For symptomatic patients, surgery is generally consideredthe definitive course of therapy.	SCTID:253353007|GARD:0012484|ICD9:746.89|Orphanet:99099	mondo.json	cor triatriatum sinistrum|divided left atrium	http://purl.obolibrary.org/obo/MONDO_0020430	http://identifiers.org/snomedct/253353007|Orphanet:99099	gard_rare|ordo_morphological_anomaly
MONDO:0007475	biolink:Disease	duodenal ulcer, hyperpepsinogenemic 1		MESH:C565086|OMIM:126850|UMLS:C1852008	mondo.json	duodenal Ulcer, hyperpepsinogenemic type 1|duodenal ulcer, hyperpepsinogenemic I	http://purl.obolibrary.org/obo/MONDO_0007475	https://omim.org/entry/126850|http://identifiers.org/mesh/C565086|UMLS:C1852008	
MONDO:0007472	biolink:Disease	basal laminar drusen	A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3.	DOID:0060746|ICD10CM:H35.5|UMLS:C0730295|MESH:C563034|OMIM:126700	mondo.json	cuticular drusen|drusen, early adult-onset, grouped|drusen of Bruch membrane|basal laminar drusen|drusen, cuticular|early adult-onset grouped drusen	http://purl.obolibrary.org/obo/MONDO_0007472	https://omim.org/entry/126700|UMLS:C0730295|http://identifiers.org/mesh/C563034|DOID:0060746	
MONDO:0007473	biolink:Disease	Duane retraction syndrome	Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.	MESH:D004370|SCTID:60318001|GARD:0006288|ICD9:378.71|Orphanet:233|OMIMPS:126800|MedDRA:10013799|NCIT:C84678|DOID:12557|UMLS:C0013261	mondo.json	Duane's syndrome|Duane retraction syndrome|Duane anomaly|Stilling-Turk-Duane syndrome|DRS|Duane syndrome|retraction syndrome|DURS	http://purl.obolibrary.org/obo/MONDO_0007473	http://identifiers.org/mesh/D004370|NCIT:C84678|https://omim.org/phenotypicSeries/PS126800|UMLS:C0013261|Orphanet:233|http://identifiers.org/snomedct/60318001|DOID:12557	gard_rare|ordo_malformation_syndrome|prototype_pattern
MONDO:0007470	biolink:Disease	calvarial doughnut lesions-bone fragility syndrome	This syndrome is characterised by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria.	SCTID:720598005|UMLS:C1852022|Orphanet:85192|MESH:C565089|OMIM:126550	mondo.json	familial doughnut lesions of skull|calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia|doughnut lesions of skull, familial	http://purl.obolibrary.org/obo/MONDO_0007470	http://identifiers.org/snomedct/720598005|Orphanet:85192|http://identifiers.org/mesh/C565089|UMLS:C1852022|https://omim.org/entry/126550	ordo_malformation_syndrome
MONDO:0007471	biolink:Disease	Doyne honeycomb retinal dystrophy	Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner.	GARD:0001912|DOID:0060745|Orphanet:75376|UMLS:C1832174|ICD10CM:H35.5|UMLS:C1852020|OMIM:126600|SCTID:193411004|UMLS:CN205694	mondo.json	Doyne honeycomb degeneration of retina|Malattia leventinese|dominant radial drusen|dominant drusen|drusen, radial, autosomal dominant|DHRD|familial drusen|DHD|Doyne honeycomb retinal dystrophy	http://purl.obolibrary.org/obo/MONDO_0007471	https://omim.org/entry/126600|http://identifiers.org/snomedct/193411004|Orphanet:75376|UMLS:C1832174|UMLS:C1852020|DOID:0060745|UMLS:CN205694	ordo_disease|gard_rare
MONDO:0020429	biolink:Disease	cor triatriatum dexter		GARD:0012483|SCTID:274947007|ICD9:746.89|Orphanet:99098|HP:0011566	mondo.json	cor triatriatum dexter (disease)|cor triatriatum dextrum|divided right atrium|cor triatriatum dexter	http://purl.obolibrary.org/obo/MONDO_0020429	Orphanet:99098|http://identifiers.org/snomedct/274947007	ordo_morphological_anomaly
MONDO:0020428	biolink:Disease	congenital Gerbode defect		Orphanet:99095|SCTID:204312002	mondo.json	Gerbode defect|left ventricular-to-right atrial communication	http://purl.obolibrary.org/obo/MONDO_0020428	Orphanet:99095|http://identifiers.org/snomedct/204312002	ordo_morphological_anomaly
MONDO:0019449	biolink:Disease	lissencephaly type 3-familial fetal akinesia sequence syndrome	Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia.	SCTID:718719001|UMLS:CN227635|Orphanet:86821	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019449	http://identifiers.org/snomedct/718719001|UMLS:CN227635|Orphanet:86821	ordo_malformation_syndrome
MONDO:0020427	biolink:Disease	Laubry-Pezzi syndrome	Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance.	UMLS:CN207292|Orphanet:99094|SCTID:764955006	mondo.json	ventricular septal defect with aortic insufficiency|VSD with aortic insufficiency	http://purl.obolibrary.org/obo/MONDO_0020427	Orphanet:99094|UMLS:CN207292|http://identifiers.org/snomedct/764955006	ordo_morphological_anomaly
MONDO:0019448	biolink:Disease	benign adult familial myoclonic epilepsy	Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.	UMLS:CN206220|SCTID:717225001|Orphanet:86814|UMLS:C4273988	mondo.json	benign adult familial myoclonus epilepsy|ADCME|familial adult myoclonic epilepsy|autosomal dominant cortical myoclonus and epilepsy|FAME|FCMTE|BAFME|familial cortical myoclonic tremor and epilepsy	http://purl.obolibrary.org/obo/MONDO_0019448	UMLS:CN206220|http://identifiers.org/snomedct/717225001|UMLS:C4273988|Orphanet:86814	ordo_disease
MONDO:0020426	biolink:Disease	malposition of the coronary ostium	Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery.	Orphanet:99090	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020426	Orphanet:99090	ordo_morphological_anomaly
MONDO:0020425	biolink:Disease	abnormal number of coronary ostia		Orphanet:99089	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020425	Orphanet:99089	ordo_morphological_anomaly
MONDO:0020424	biolink:Disease	intramural coronary arterial course	Intramural coronary arterial course is a rare coronary artery congenital malformation disorder characterized by an atypical course of a coronary artery (usually proximal left anterior descending artery) in which, for a variable length, the artery runs intramyocardally. Depending on the artery and length of segment involved, patients may be asymptomatic or may present variable manifestations ranging from atypical angina to sudden death.	Orphanet:99088	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020424	Orphanet:99088	ordo_morphological_anomaly
MONDO:0019445	biolink:Disease	trichofolliculoma	Trichofolliculoma is a rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair.	Orphanet:864|ICDO:8101/0|MESH:C536553|GARD:0005263|MedDRA:10044611|UMLS:C0334262|NCIT:C4112|SCTID:274899008	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019445	NCIT:C4112|UMLS:C0334262|http://identifiers.org/snomedct/274899008|http://identifiers.org/mesh/C536553|Orphanet:864	gard_rare|ordo_disease
NBO:0000355	biolink:NamedThing	posture	"Intentionally or habitually assumed arrangement of the body and its limbs." [NBO:GVG]		mondo.json		http://purl.obolibrary.org/obo/NBO_0000355		
MONDO:0019444	biolink:Disease	trichinellosis	A zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur.	Orphanet:863|ICD9:124|MedDRA:10044608|SCTID:88264003|EFO:0007520|SCTID:709018004|DOID:9784|MESH:D014235|GARD:0005250|NCIT:C85199|ICD10CM:B75	mondo.json	Trichinella disease or disorder|infection with Trichinella|trichinosis|Trichinella spiralis infection|Trichinella infectious disease|Human trichinellosis|trichiniasis|Trichinella caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0019444	NCIT:C85199|DOID:9784|http://identifiers.org/snomedct/709018004|http://identifiers.org/mesh/D014235|http://purl.bioontology.org/ontology/ICD10CM/B75|Orphanet:863	ordo_disease
MONDO:0019447	biolink:Disease	atypical lichen myxedematosus	Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported.	Orphanet:86797|UMLS:C4510874|SCTID:725148000	mondo.json	Intermediate lichen myxedematosus	http://purl.obolibrary.org/obo/MONDO_0019447	http://identifiers.org/snomedct/725148000|UMLS:C4510874|Orphanet:86797	ordo_disease
MONDO:0019446	biolink:Disease	localized lichen myxedematosus	Localized lichen myxedematosus is a group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis.	Orphanet:86795|GARD:0007321|UMLS:C0263390	mondo.json	papular mucinosis	http://purl.obolibrary.org/obo/MONDO_0019446	Orphanet:86795	ordo_group_of_disorders|disease_grouping
MONDO:0019441	biolink:Disease	ATTRV122I amyloidosis	Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.	Orphanet:85451|ICD10EXP:E85.4+|SCTID:715655000|ICD10EXP:I43.1*	mondo.json	ATTR cardiomyopathy|ATTRV122I-related amyloidosis|transthyretin-related familial amyloid cardiomyopathy|TTR-related cardiac amyloidosis|transthyretin amyloid cardiopathy|TTR-related amyloid cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0019441	http://identifiers.org/snomedct/715655000|Orphanet:85451	ordo_disease
MONDO:0019440	biolink:Disease	wild type ABeta2M amyloidosis		UMLS:CN206197|SCTID:32599008|Orphanet:85446|GARD:0010563	mondo.json	wild type ABeta2-microglobulinic amyloidosis|amyloidosis beta2m|dialysis-related amyloidosis|amyloidosis dialysis-related|Beta-2-microglobulin amyloidosis|dialysis-related arthropathy|ABeta2Mwt amyloidosis|DRA	http://purl.obolibrary.org/obo/MONDO_0019440	http://identifiers.org/snomedct/32599008|Orphanet:85446|UMLS:CN206197	gard_rare|ordo_disease
MONDO:0019443	biolink:Disease	dextro-looped transposition of the great arteries	Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance.	DOID:0060770|Orphanet:860|OMIMPS:608808	mondo.json	DTGA|isolated ventriculoarterial discordance|D-TGA|congenitally uncorrected transposition of the great arteries|ventriculoarterial discordance with atrioventricular concordance|congenitally uncorrected transposition of the great vessels	http://purl.obolibrary.org/obo/MONDO_0019443	DOID:0060770|Orphanet:860	ordo_morphological_anomaly
MONDO:0019442	biolink:Disease	obsolete congenital toxoplasmosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019442		
NBO:0000317	biolink:NamedThing	vestibular behavior	"Behavior related to the awareness of body balance and movement." [MBP:GVG]		mondo.json	proprioception	http://purl.obolibrary.org/obo/NBO_0000317		
MONDO:0007449	biolink:Disease	dermo-odonto dysplasia	Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterised by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely.	SCTID:721091003|MESH:C565103|OMIM:125640|UMLS:C1852144|UMLS:C4303591|GARD:0001816|Orphanet:1660	mondo.json	dermoodonto dysplasia|dermo-odonto-dysplasia|ectodermal dysplasia, hair-nail-Tooth type|DERMOODONTODYSPLASIA|dermo-odonto dysplasia|dermo odontodysplasia	http://purl.obolibrary.org/obo/MONDO_0007449	http://identifiers.org/snomedct/721091003|Orphanet:1660|http://identifiers.org/mesh/C565103|UMLS:C4303591|UMLS:C1852144|https://omim.org/entry/125640	ordo_malformation_syndrome
MONDO:0007447	biolink:Disease	autosomal dominant vibratory urticaria	An autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum.	Orphanet:493342|UMLS:C0473546|MESH:C536347|Orphanet:493348|SCTID:238694002|UMLS:C1852146|OMIM:193050|ICD9:995.1|OMIM:125630	mondo.json	dermodistortive urticaria|vibratory angioedema|VBU|vibratory urticaria, autosomal dominant|DDU|angioedema, vibratory	http://purl.obolibrary.org/obo/MONDO_0007447	http://identifiers.org/mesh/C536347|Orphanet:493342|UMLS:C1852146|UMLS:C0473546|https://omim.org/entry/125630|http://identifiers.org/snomedct/238694002	ordo_disease
NBO:0000313	biolink:NamedThing	behavior process	"The action, reaction, or performance of an organism in response to external or internal stimuli." [GO:GO\:0007610]		mondo.json	behavior|behaviour	http://purl.obolibrary.org/obo/NBO_0000313		
MONDO:0007448	biolink:Disease	familial dermatographia	Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment may invovle use of antihistamines if symptoms do not go away on their own.	ICD10CM:L50.3|ICD9:708.3|OMIM:125635|MESH:C536612|GARD:0009480|SCTID:7632005|DOID:743|EFO:1000685	mondo.json	dermographism|DDU|familial dermographism|dermatographia|dermatographic urticaria|familial dermatographism|dermographism, familial|dermo-distortive urticaria|Dermatographism, familial|VBU|Dermodistortive urticaria|vibratory angioedema|vibratory urticaria	http://purl.obolibrary.org/obo/MONDO_0007448	DOID:743|http://identifiers.org/mesh/C536612|http://purl.bioontology.org/ontology/ICD10CM/L50.3|http://identifiers.org/snomedct/7632005|https://omim.org/entry/125635	gard_rare
MONDO:0007445	biolink:Disease	dermatopathia pigmentosa reticularis		OMIM:125595|SCTID:239088003|Orphanet:86920|MESH:C535374|DOID:0111342|GARD:0008550	mondo.json	DPR|dermatopathia pigmentosa reticularis	http://purl.obolibrary.org/obo/MONDO_0007445	Orphanet:86920|DOID:0111342|http://identifiers.org/mesh/C535374|https://omim.org/entry/125595|http://identifiers.org/snomedct/239088003	gard_rare|ordo_disease
MONDO:0020423	biolink:Disease	stenosis or atrophy of the coronary ostium		Orphanet:99087	mondo.json	stenosis or atresia of the coronary ostium|coronary ostial stenosis or atresia	http://purl.obolibrary.org/obo/MONDO_0020423	Orphanet:99087	ordo_morphological_anomaly
MONDO:0007446	biolink:Disease	dermatosis papulosa nigra	A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body.	SCTID:254669003|Wikipedia:Dermatosis_papulosa_nigra|NCIT:C2984|OMIM:125600|UMLS:C0011645|MESH:C562379|ICD10CM:L82|DOID:4400|ICD9:709.8|EFO:1000686	mondo.json	dermatosis papulosa nigra|dermatosis papulosa nigra (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0007446	DOID:4400|UMLS:C0011645|http://identifiers.org/mesh/C562379|http://identifiers.org/snomedct/254669003|https://omim.org/entry/125600|NCIT:C2984	
MONDO:0020422	biolink:Disease	aortopulmonary coronary arterial course	Aortopulmonary coronary arterial course is a rare coronary artery congenital malformation characterized by anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death, especially during exercise.	Orphanet:99086	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020422	Orphanet:99086	ordo_morphological_anomaly
MONDO:0020421	biolink:Disease	coronary artery intramyocardial course		Orphanet:99085	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020421	Orphanet:99085	ordo_morphological_anomaly
MONDO:0007443	biolink:Disease	congenital unilateral hypoplasia of depressor anguli oris	Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood).	SCTID:51409009|Orphanet:1166|ICD9:759.89|OMIM:125520	mondo.json	depressor anguli oris muscle, hypoplasia of|facial paresis, partial, unilateral|Cayler cardiofacial syndrome|isolated asymmetric crying facies|asymmetric crying facies	http://purl.obolibrary.org/obo/MONDO_0007443	https://omim.org/entry/125520|Orphanet:1166|http://identifiers.org/snomedct/51409009	ordo_morphological_anomaly
MONDO:0007444	biolink:Disease	dermal Ridges, patternless		OMIM:125540|MESH:C565109|UMLS:C1852160	mondo.json	dermal Ridges, patternless	http://purl.obolibrary.org/obo/MONDO_0007444	UMLS:C1852160|https://omim.org/entry/125540|http://identifiers.org/mesh/C565109	
MONDO:0020420	biolink:Disease	pulmonary branch stenosis	Narrowing of the lumen of the right or left pulmonary artery branch.	Orphanet:99084|NCIT:C99144|UMLS:C2062889	mondo.json	branch pulmonary artery stenosis|pulmonary artery stenosis, branch (not PPS)|peripheral pulmonary stenosis	http://purl.obolibrary.org/obo/MONDO_0020420	Orphanet:99084|UMLS:C2062889|NCIT:C99144	ordo_morphological_anomaly
MONDO:0007441	biolink:Disease	dentinogenesis imperfecta type 2	Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth.	OMIM:125490|Orphanet:166260|GARD:0012796	mondo.json	DI-2|dentinogenesis imperfecta 1|Capdepont teeth|DGI1|opalescent teeth without osteogenesis imperfecta|opalescent dentin|DGI-II|dentinogenesis imperfecta, Shields type 2|dentinogenesis imperfecta without osteogenesis imperfecta|dentinogenesis imperfecta, Shields type II|dentinogenesis imperfecta type 1|DGI-2	http://purl.obolibrary.org/obo/MONDO_0007441	https://omim.org/entry/125490|Orphanet:166260	ordo_clinical_subtype
MONDO:0007442	biolink:Disease	dentinogenesis imperfecta type 3	Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).	GARD:0010144|MESH:C538216|SCTID:234970006|ICD9:520.5|Orphanet:166265|OMIM:125500	mondo.json	dentinogenesis imperfecta type III|dentinogenesis imperfecta Shields type 3|dentinogenesis imperfecta, Shields type 3|DGI-III|brandywine type dentinogenesis imperfecta|dentinogenesis imperfecta, Shields type III	http://purl.obolibrary.org/obo/MONDO_0007442	http://identifiers.org/snomedct/234970006|https://omim.org/entry/125500|Orphanet:166265|http://identifiers.org/mesh/C538216	ordo_clinical_subtype|gard_rare
MONDO:0007440	biolink:Disease	major affective disorder 1		MESH:C565111|DOID:0080220|OMIM:125480	mondo.json	major affective disorder 1|MAFD1|manic-depressive psychosis|bipolar affective disorder|MAJOR affective disorder 1|manic-depressive psychosis, autosomal	http://purl.obolibrary.org/obo/MONDO_0007440	https://omim.org/entry/125480|http://identifiers.org/mesh/C565111	
MONDO:0020419	biolink:Disease	pulmonary artery hypoplasia		SCTID:54682008|HP:0004971|Orphanet:99083	mondo.json	pulmonary artery hypoplasia|pulmonary artery hypoplasia (disease)	http://purl.obolibrary.org/obo/MONDO_0020419	http://identifiers.org/snomedct/54682008|Orphanet:99083	ordo_morphological_anomaly
GO:0030193	biolink:NamedThing	regulation of blood coagulation	Any process that modulates the frequency, rate or extent of blood coagulation.		mondo.json		http://purl.obolibrary.org/obo/GO_0030193		
MONDO:0020418	biolink:Disease	dysphagia lusoria		UMLS:C0267073|SCTID:231719009|Orphanet:99082|ICD9:787.29	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020418	http://identifiers.org/snomedct/231719009|UMLS:C0267073|Orphanet:99082	ordo_morphological_anomaly
MONDO:0020417	biolink:Disease	right aortic arch	An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided.	MedDRA:10067407|SCTID:111321007|HP:0012020|Orphanet:99081|NCIT:C103917	mondo.json	right aortic arch|right aortic arch (disease)	http://purl.obolibrary.org/obo/MONDO_0020417	Orphanet:99081|http://identifiers.org/snomedct/111321007|NCIT:C103917	ordo_morphological_anomaly
MONDO:0019438	biolink:Disease	AL amyloidosis	AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ.	OMIM:254500|Orphanet:85443|GARD:0005797|MedDRA:10036673|UMLS:C0268381|MESH:C531616	mondo.json	primary AL amyloidosis|amyloidosis AL|Light chain amyloidosis|systemic AL amyloidsis|primary systemic amyloidosis|primary amyloidosis|amyloidosis primary systemic|primary systemic AL amyloidosis|primary amyloidosis (formerly)|Light-chain amyloidosis	http://purl.obolibrary.org/obo/MONDO_0019438	Orphanet:85443|UMLS:C0268381|http://identifiers.org/mesh/C531616	ordo_disease|gard_rare
MONDO:0020416	biolink:Disease	Neuhauser anomaly	Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections).	SCTID:766751007|Orphanet:99078	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020416	Orphanet:99078|http://identifiers.org/snomedct/766751007	ordo_morphological_anomaly
MONDO:0019437	biolink:Disease	enthesitis-related juvenile idiopathic arthritis	Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy.	SCTID:410801005|NCIT:C119024|GARD:0010969|Orphanet:85438	mondo.json	juvenile enthesitis-related arthritis|enthesitis-related arthritis|enthesitis related arthritis, juvenile|era|enthesitis-related JIA|juvenile spondylarthropathy	http://purl.obolibrary.org/obo/MONDO_0019437	Orphanet:85438|http://identifiers.org/snomedct/410801005|NCIT:C119024	ordo_malformation_syndrome|gard_rare
MONDO:0020415	biolink:Disease	Kommerell diverticulum	Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture.	SCTID:74561007|Orphanet:99077	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020415	Orphanet:99077|http://identifiers.org/snomedct/74561007	ordo_morphological_anomaly
MONDO:0020414	biolink:Disease	persistent fifth aortic arch		Orphanet:99076	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020414	Orphanet:99076	ordo_morphological_anomaly
MONDO:0019439	biolink:Disease	AA amyloidosis	Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.	MedDRA:10039811|NCIT:C3818|Orphanet:85445|SCTID:281034005|UMLS:C0221014|GARD:0010560|UMLS:C3536715|ICD9:277.39	mondo.json	amyloid A amyloidosis|reactive amyloidosis|secondary amyloidosis|inflammatory amyloidosis|amyloidosis AA	http://purl.obolibrary.org/obo/MONDO_0019439	Orphanet:85445|UMLS:C0221014|UMLS:C3536715|http://identifiers.org/snomedct/281034005|NCIT:C3818	gard_rare|ordo_disease
MONDO:0020413	biolink:Disease	encircling double aortic arch	Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations.	Orphanet:99075|SCTID:764521002	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020413	Orphanet:99075|http://identifiers.org/snomedct/764521002	ordo_morphological_anomaly
MONDO:0019434	biolink:Disease	systemic-onset juvenile idiopathic arthritis	Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.	NCIT:C119031|EFO:1001999|GARD:0010966|MESH:C565798|SCTID:201796004|Orphanet:85414	mondo.json	systemic juvenile idiopathic arthritis|systemic-onset JIA|SoJIA|systemic polyarthritis|Still's disease (formerly)|sJIA|systemic onset juvenile rheumatoid arthritis|systemic onset juvenile idiopathic arthritis|Still disease	http://purl.obolibrary.org/obo/MONDO_0019434	http://identifiers.org/mesh/C565798|NCIT:C119031|http://identifiers.org/snomedct/201796004|Orphanet:85414	gard_rare|ordo_disease
MONDO:0019433	biolink:Disease	oligoarticular juvenile idiopathic arthritis	Oligoarticular juvenile arthritis is the most common form of juvenile idiopathic arthritis (JIA), representing nearly 50% of cases.	Orphanet:85410|MESH:C536312|NCIT:C119032|UMLS:C3898105|EFO:1002019|UMLS:C2931171|ICD10CM:M08.4|GARD:0004261	mondo.json	Oligoarticular JIA|Pauciarticular chronic arthritis|Pauciarticular juvenile idiopathic arthritis|Pauciarticular JIA	http://purl.obolibrary.org/obo/MONDO_0019433	UMLS:C2931171|NCIT:C119032|http://identifiers.org/mesh/C536312|UMLS:C3898105|Orphanet:85410	ordo_disease
MONDO:0019436	biolink:Disease	psoriasis-related juvenile idiopathic arthritis	Childhood arthritis typically associated with psoriasis.	GARD:0010970|NCIT:C114361|ICD10EXP:L40.5+|Orphanet:85436|SCTID:239802003|ICD10EXP:M09.0*	mondo.json	juvenile psoriatic arthritis|psoriasis-related JIA|JPsA	http://purl.obolibrary.org/obo/MONDO_0019436	http://identifiers.org/snomedct/239802003|NCIT:C114361|Orphanet:85436	ordo_disease
GO:0030198	biolink:NamedThing	extracellular matrix organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix.		mondo.json	extracellular matrix organization and biogenesis|extracellular matrix organisation	http://purl.obolibrary.org/obo/GO_0030198		
MONDO:0019435	biolink:Disease	rheumatoid factor-positive polyarticular juvenile idiopathic arthritis	A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor.	UMLS:C3890733|NCIT:C119034|Orphanet:85435	mondo.json	rheumatoid factor-positive polyarticular JIA|polyarticular juvenile idiopathic arthritis, rheumatoid Factor Positive|polyarthritis with rheumatoid factor|polyarticular JIA, RF+|juvenile idiopathic rheumatoid factor-positive polyarthritis|polyarticular juvenile idiopathic arthritis, RF+	http://purl.obolibrary.org/obo/MONDO_0019435	UMLS:C3890733|NCIT:C119034|Orphanet:85435	ordo_disease
MONDO:0019430	biolink:Disease	X-linked intellectual disability-ataxia-apraxia syndrome	X-linked intellectual disability-ataxia-apraxia syndrome is characterised by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers.	Orphanet:85338|UMLS:CN227633	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019430	UMLS:CN227633|Orphanet:85338	ordo_disease
NCBITaxon:1521262	biolink:OrganismalEntity	Polypodiidae <ferns>		PMID:21652310|GC_ID:1	mondo.json	Polypodiidae	http://purl.obolibrary.org/obo/NCBITaxon_1521262		
MONDO:0019432	biolink:Disease	rheumatoid factor-negative juvenile idiopathic arthritis	Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset.	Orphanet:85408	mondo.json	rheumatoid factor-negative JIA|polyarthritis without rheumatoid factor|juvenile rheumatoid factor-negative polyarthritis	http://purl.obolibrary.org/obo/MONDO_0019432	Orphanet:85408	ordo_disease
GO:0030194	biolink:NamedThing	positive regulation of blood coagulation	Any process that activates or increases the frequency, rate or extent of blood coagulation.		mondo.json	up regulation of blood coagulation|activation of blood coagulation|stimulation of blood coagulation|upregulation of blood coagulation|up-regulation of blood coagulation	http://purl.obolibrary.org/obo/GO_0030194		
MONDO:0019431	biolink:Disease	primitive portal vein thrombosis	Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system.	ICD10CM:I81|UMLS:C0155773|MedDRA:10036206|Orphanet:854	mondo.json	non-cirrhotic portal vein thrombosis	http://purl.obolibrary.org/obo/MONDO_0019431	Orphanet:854	ordo_clinical_syndrome
GO:0030195	biolink:NamedThing	negative regulation of blood coagulation	Any process that stops, prevents, or reduces the frequency, rate or extent of blood coagulation.		mondo.json	down-regulation of blood coagulation|down regulation of blood coagulation|downregulation of blood coagulation|inhibition of blood coagulation	http://purl.obolibrary.org/obo/GO_0030195		
NBO:0000327	biolink:NamedThing	somatic sensation related behavior	"Behavior related to the sensations arising from the skin and from the muscles, tendons, and joints." [OBP:GVG]		mondo.json		http://purl.obolibrary.org/obo/NBO_0000327		
MONDO:0007458	biolink:Disease	digitotalar dysmorphism; ulnar drift, hereditary		OMIM:126050|SCTID:715314008	mondo.json	ulnar drift, hereditary|digitotalar dysmorphism	http://purl.obolibrary.org/obo/MONDO_0007458	https://omim.org/entry/126050	
MONDO:0007459	biolink:Disease	dilution, pigmentary		MESH:C566872|GARD:0006731|OMIM:126070|UMLS:C1876214|SCTID:23006000	mondo.json	hypomelanotic disorder|hypopigmentation|dilution, pigmentary|albinism, partial|Albinoidism, oculocutaneous, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007459	http://identifiers.org/mesh/C566872|http://identifiers.org/snomedct/23006000|https://omim.org/entry/126070|UMLS:C1876214	
MONDO:0020412	biolink:Disease	congenital patent ductus arteriosus aneurysm	Congenital patent ductus arteriosus aneurysm is a rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported.	Orphanet:99072|SCTID:763316006	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020412	Orphanet:99072|http://identifiers.org/snomedct/763316006	ordo_morphological_anomaly
MONDO:0007456	biolink:Disease	diarrhea, glucose-stimulated secretory, with common variable immunodeficiency		OMIM:125890|MESH:C565099|UMLS:C1852087	mondo.json	diarrhea, glucose-stimulated secretory, with common variable immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0007456	UMLS:C1852087|https://omim.org/entry/125890|http://identifiers.org/mesh/C565099	
MONDO:0007457	biolink:Disease	diastema, dental medial		MESH:C565098|OMIM:125900	mondo.json	diastema, dental medial	http://purl.obolibrary.org/obo/MONDO_0007457	https://omim.org/entry/125900|http://identifiers.org/mesh/C565098	
MONDO:0020411	biolink:Disease	aorto-left ventricular tunnel		Orphanet:99071	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020411	Orphanet:99071	ordo_clinical_subtype
MONDO:0007454	biolink:Disease	type 1 diabetes mellitus 2	Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the INS gene.	MESH:C565100|UMLS:C1852092|DOID:0110741|OMIM:125852	mondo.json	IDDM2|diabetes mellitus, insulin-dependent, 2|INS type 1 diabetes mellitus|diabetes mellitus, insulin-dependent, type 2|type 1 diabetes mellitus caused by mutation in INS|insulin-dependent diabetes mellitus 2	http://purl.obolibrary.org/obo/MONDO_0007454	DOID:0110741|UMLS:C1852092|https://omim.org/entry/125852|http://identifiers.org/mesh/C565100	
MONDO:0020410	biolink:Disease	aorto-right ventricular tunnel		Orphanet:99070	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020410	Orphanet:99070	ordo_clinical_subtype
MONDO:0007455	biolink:Disease	obsolete diabetes mellitus, noninsulin-dependent			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007455		
MONDO:0007452	biolink:Disease	maturity-onset diabetes of the young type 1	Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha.	OMIM:125850|UMLS:C1852093|DOID:0111099|GARD:0003418|NCIT:C129744|SCTID:609562003|MESH:C565101	mondo.json	MODY, type 1|type 1 maturity-onset diabetes of the young|MODY type 1|maturity onset diabetes of the Young, type 1|MODY1|mild juvenile diabetes mellitus|maturity-onset diabetes of the young, type 1|diabetes mellitus MODY type 1|diabetes mellitus type 2|MODY HNF4A related|HNF4A-associated monogenic diabetes|hepatocyte nuclear Factor 4-Alpha associated monogenic diabetes|MODY, type I	http://purl.obolibrary.org/obo/MONDO_0007452	http://identifiers.org/snomedct/609562003|UMLS:C1852093|https://omim.org/entry/125850|DOID:0111099|NCIT:C129744|http://identifiers.org/mesh/C565101	gard_rare
MONDO:0007453	biolink:Disease	maturity-onset diabetes of the young type 2	Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes.	DOID:0111100|GARD:0010657|SCTID:237604008|UMLS:C0085207|NCIT:C129741|OMIM:125851	mondo.json	MODY, type 2|MODY, type II|MODY2|MODY type 2|type 2 maturity-onset diabetes of the young|GCK maturity-onset diabetes of the young (disease)|MODY glucokinase-related|MODY, glucokinase-related|MODY 2 monogenic diabetes type 2|diabetes mellitus MODY type 2|maturity-onset diabetes of the young, type 2|maturity-onset diabetes of the young (disease) caused by mutation in GCK|GCK-associated diabetes mellitus|glucokinase-associated diabetes mellitus|maturity onset diabetes of the Young, type 2	http://purl.obolibrary.org/obo/MONDO_0007453	https://omim.org/entry/125851|http://identifiers.org/snomedct/237604008|DOID:0111100|NCIT:C129741	gard_rare
MONDO:0007450	biolink:Disease	neurohypophyseal diabetes insipidus	Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.	Orphanet:30925|DOID:12388|SCTID:45369008|OMIM:125700|NCIT:C84933	mondo.json	diabetes insipidus of pituitary gland|neurogenic diabetes insipidus|diabetes insipidus, neurohypophyseal|diabetes insipidus, cranial type|hereditary CDI|antidiuretic hormone deficiency|diabetes insipidus, primary central|hereditary central diabetes insipidus|pituitary diabetes insipidus|ADH deficiency|hereditary neurogenic diabetes insipidus|Arginine vasopressin deficiency|pituitary gland diabetes insipidus|vasopressin defective diabetes insipidus|vasopressin deficiency|AVP deficiency	http://purl.obolibrary.org/obo/MONDO_0007450	http://identifiers.org/snomedct/45369008|NCIT:C84933|https://omim.org/entry/125700|Orphanet:30925|DOID:12388	ordo_clinical_subtype
MONDO:0007451	biolink:Disease	diabetes insipidus, nephrogenic, autosomal		OMIM:125800|UMLS:C1563706	mondo.json	diabetes insipidus, nephrogenic, type 2|diabetes insipidus, nephrogenic, 2|diabetes insipidus, nephrogenic, autosomal	http://purl.obolibrary.org/obo/MONDO_0007451	UMLS:C1563706|https://omim.org/entry/125800	
MONDO:0020409	biolink:Disease	univentricular heart with single atrio-ventricular valve		Orphanet:99069	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020409	Orphanet:99069	ordo_clinical_subtype
MONDO:0020408	biolink:Disease	complete atrioventricular canal-tetralogy of fallot syndrome		Orphanet:99068|UMLS:CN207280	mondo.json	CAVC-Fallot tetralogy syndrome|CAVC type C|complete atrioventricular canal type C	http://purl.obolibrary.org/obo/MONDO_0020408	UMLS:CN207280|Orphanet:99068	ordo_clinical_subtype
GO:0030182	biolink:NamedThing	neuron differentiation	The process in which a relatively unspecialized cell acquires specialized features of a neuron.		mondo.json		http://purl.obolibrary.org/obo/GO_0030182		
MONDO:0020407	biolink:Disease	complete atrioventricular canal-ventricle hypoplasia syndrome		UMLS:CN207279|Orphanet:99067	mondo.json	CAVC-ventricle hypoplasia syndrome|CAVC type B|complete atrioventricular canal type B	http://purl.obolibrary.org/obo/MONDO_0020407	UMLS:CN207279|Orphanet:99067	ordo_clinical_subtype
MONDO:0020406	biolink:Disease	complete atrioventricular canal-left heart obstruction syndrome		UMLS:CN207278|Orphanet:99066	mondo.json	CAVC-left heart obstruction syndrome|CAVC type A|complete atrioventricular canal type A	http://purl.obolibrary.org/obo/MONDO_0020406	Orphanet:99066|UMLS:CN207278	ordo_clinical_subtype
MONDO:0019427	biolink:Disease	X-linked neurodegenerative syndrome, Bertini type	X-linked neurodegenerative syndrome, Bertini type is characterised by generalised hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter.	Orphanet:85334|SCTID:718849008|UMLS:CN206185	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019427	Orphanet:85334|UMLS:CN206185|http://identifiers.org/snomedct/718849008	ordo_disease
MONDO:0020405	biolink:Disease	straddling and/or overriding mitral valve		Orphanet:99064	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020405	Orphanet:99064	ordo_clinical_subtype
MONDO:0020404	biolink:Disease	shone complex	A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis.	SCTID:41371000119100|MedDRA:10066802|UMLS:C1868705|NCIT:C99058|Orphanet:99063|ICD9:746.84	mondo.json	shone syndrome|shone's syndrome (greater than 3 sites)	http://purl.obolibrary.org/obo/MONDO_0020404	http://identifiers.org/snomedct/41371000119100|Orphanet:99063|NCIT:C99058|UMLS:C1868705	ordo_malformation_syndrome
MONDO:0019426	biolink:Disease	X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome	X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterised by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive.	GARD:0012489|Orphanet:85330|UMLS:CN206182	mondo.json	X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis	http://purl.obolibrary.org/obo/MONDO_0019426	Orphanet:85330|UMLS:CN206182	ordo_disease
MONDO:0019429	biolink:Disease	X-linked neurodegenerative syndrome, Hamel type	An X-linked neurodegenerative disorder characterised by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12.	Orphanet:85336|UMLS:CN206187|SCTID:718847005	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019429	Orphanet:85336|http://identifiers.org/snomedct/718847005|UMLS:CN206187	ordo_disease
MONDO:0020403	biolink:Disease	congenital mitral valve agenesis	Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation.	Orphanet:99062	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020403	Orphanet:99062	ordo_morphological_anomaly
MONDO:0019428	biolink:Disease	fried syndrome	A rare X-linked syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.	SCTID:718848000|UMLS:C4305134|Orphanet:85335|OMIM:304340|UMLS:CN206186	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019428	http://identifiers.org/snomedct/718848000|Orphanet:85335|UMLS:CN206186|UMLS:C4305134	ordo_malformation_syndrome
MONDO:0020402	biolink:Disease	congenital accessory mitral valve tissue	Accessory mitral valve tissue is a congenital non-syndromic heart malformation defined as an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations.	Orphanet:99061	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020402	Orphanet:99061	ordo_morphological_anomaly
MONDO:0019423	biolink:Disease	X-linked intellectual disability, Stoll type	X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.	UMLS:CN206179|SCTID:718911005|Orphanet:85326	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019423	http://identifiers.org/snomedct/718911005|UMLS:CN206179|Orphanet:85326	ordo_malformation_syndrome
MONDO:0019422	biolink:Disease	X-linked intellectual disability, Stevenson type	An X-linked syndromic intellectual disability characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.	SCTID:718909001|UMLS:CN206178|Orphanet:85325	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019422	UMLS:CN206178|Orphanet:85325|http://identifiers.org/snomedct/718909001	ordo_malformation_syndrome
GO:0030187	biolink:NamedThing	melatonin biosynthetic process	The chemical reactions and pathways resulting in the formation of melatonin (N-acetyl-5-methoxytryptamine).		mondo.json	melatonin biosynthesis|melatonin synthesis|melatonin formation|melatonin anabolism	http://purl.obolibrary.org/obo/GO_0030187		
MONDO:0019425	biolink:Disease	obsolete X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019425		
MONDO:0019424	biolink:Disease	X-linked intellectual disability-acromegaly-hyperactivity syndrome	X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.	UMLS:CN227631|Orphanet:85327	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019424	Orphanet:85327|UMLS:CN227631	ordo_disease
GO:0030186	biolink:NamedThing	melatonin metabolic process	The chemical reactions and pathways involving melatonin (N-acetyl-5-methoxytryptamine).		mondo.json	melatonin metabolism	http://purl.obolibrary.org/obo/GO_0030186		
MONDO:0019421	biolink:Disease	X-linked intellectual disability, Seemanova type	X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked.	Orphanet:85323|UMLS:CN227630|SCTID:718897009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019421	http://identifiers.org/snomedct/718897009|UMLS:CN227630|Orphanet:85323	ordo_disease
GO:0030183	biolink:NamedThing	B cell differentiation	The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.		mondo.json	B-lymphocyte differentiation|B cell development|B-cell differentiation|B lymphocyte differentiation	http://purl.obolibrary.org/obo/GO_0030183		
MONDO:0019420	biolink:Disease	X-linked intellectual disability, Pai type	X-linked intellectual disability, Pai type is characterised by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localised to the q28 region of the X chromosome.	Orphanet:85322|UMLS:CN206176|SCTID:719011002	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019420	UMLS:CN206176|http://identifiers.org/snomedct/719011002|Orphanet:85322	ordo_malformation_syndrome
MONDO:0020481	biolink:Disease	myotonia fluctuans	Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.	NCIT:C122789|SCTID:715788001|UMLS:C0752355|Orphanet:99734	mondo.json	Fluctuating myotonia|exercise-induced delayed-onset myotonia|MF	http://purl.obolibrary.org/obo/MONDO_0020481	http://identifiers.org/snomedct/715788001|NCIT:C122789|Orphanet:99734|UMLS:C0752355	ordo_disease
MONDO:0019492	biolink:Disease	obsolete desmoid tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019492		
MONDO:0019491	biolink:Disease	obsolete rare intellectual disability	OBSOLETE. Rare intellectual disability.	UMLS:CN227638|Orphanet:87277	mondo.json	rare intellectual disability	http://purl.obolibrary.org/obo/MONDO_0019491	Orphanet:87277|UMLS:CN227638	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0020480	biolink:Disease	sulfite oxidase deficiency due to molybdenum cofactor deficiency		Orphanet:99732|OMIMPS:252150|DOID:0111165|GARD:0003705	mondo.json	combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase|molybdenum cofactor deficiency|combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase|MOCOD	http://purl.obolibrary.org/obo/MONDO_0020480	Orphanet:99732|DOID:0111165|https://omim.org/phenotypicSeries/PS252150	ordo_clinical_subtype
MONDO:0019494	biolink:Disease	primary pediatric heart tumor	Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic.	UMLS:CN206281|Orphanet:875|ICD10CM:D15.1	mondo.json	pediatric heart neoplasm|heart tumor of child|Cardiac tumor of child	http://purl.obolibrary.org/obo/MONDO_0019494	Orphanet:875|UMLS:CN206281	ordo_disease
MONDO:0019493	biolink:Disease	primary adult heart tumor	Adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms).	UMLS:CN206280|Orphanet:874|SCTID:715403006|ICD10CM:D15.1|UMLS:C4275152	mondo.json	adult heart tumor|adult cardiac tumor	http://purl.obolibrary.org/obo/MONDO_0019493	Orphanet:874|UMLS:CN206280|UMLS:C4275152|http://identifiers.org/snomedct/715403006	ordo_disease
MONDO:0019490	biolink:Disease	progressive familial heart block	A hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.	DOID:0111073|Orphanet:871|OMIMPS:113900|SCTID:93130009|UMLS:CN206278|ICD9:426.6|OMIM:612838|OMIM:115080|SCTID:698249005|GARD:0010005	mondo.json	PFHB|familial progressive cardiac conduction defect|familial progressive heart block|familial Lev-Lenegre disease|hereditary bundle branch defect|familial Lenegre disease|familial Lev disease|familial PCCD|familial Lenègre disease|familial Lev-Lenègre disease	http://purl.obolibrary.org/obo/MONDO_0019490	DOID:0111073|http://identifiers.org/snomedct/698249005|Orphanet:871|UMLS:CN206278|https://omim.org/phenotypicSeries/PS113900	ordo_disease
MONDO:0020489	biolink:Disease	familial hyperreninemic hypoaldosteronism type 1		Orphanet:99763|UMLS:C4289986	mondo.json	FHHA1|CMO I|CMO II|corticosterone methyloxidase deficiency type I|18-hydroxylase deficiency|aldosterone synthase deficiency|18-oxidase deficiency	http://purl.obolibrary.org/obo/MONDO_0020489	UMLS:C4289986|Orphanet:99763	ordo_etiological_subtype
MONDO:0020488	biolink:Disease	atypical progressive supranuclear palsy syndrome	Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA).	Orphanet:99750	mondo.json	atypical PSP syndrome	http://purl.obolibrary.org/obo/MONDO_0020488	Orphanet:99750	ordo_clinical_subtype
MONDO:0020487	biolink:Disease	Pontiac fever	Pontiac fever (PF) is a mild form of legionellosis manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia.	MedDRA:10054161|SCTID:240447002|DOID:0050150|Orphanet:99748|ICD9:041.89|UMLS:C0343528|NCIT:C128335	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020487	UMLS:C0343528|http://identifiers.org/snomedct/240447002|Orphanet:99748|DOID:0050150|NCIT:C128335	ordo_clinical_subtype
MONDO:0020486	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0020486		
MONDO:0020485	biolink:Disease	King-Denborough syndrome	King-Denborough syndrome is a rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use.	SCTID:764957003|OMIM:145600|Orphanet:99741|MESH:C536883|GARD:0008433|GARD:0008561|MESH:C537504	mondo.json	anesthetic-induced malignant hyperpyrexia in children|Kousseff Nichols syndrome|King Denborough syndrome|Koussef-Nichols syndrome|Noonan like contracture myopathy hyperpyrexia	http://purl.obolibrary.org/obo/MONDO_0020485	http://identifiers.org/mesh/C536883|http://identifiers.org/snomedct/764957003|Orphanet:99741|http://identifiers.org/mesh/C537504	ordo_malformation_syndrome|gard_rare
MONDO:0020484	biolink:Disease	obsolete rare familial disorder with hypertrophic cardiomyopathy		Orphanet:99739	mondo.json	rare familial disorder with hypertrophic obstructive cardiomyopathy|rare familial disorder with hypertrophic subaortic stenosis	http://purl.obolibrary.org/obo/MONDO_0020484	Orphanet:99739	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0020483	biolink:Disease	acetazolamide-responsive myotonia	Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).	SCTID:715793003|OMIM:608390|Orphanet:99736	mondo.json	painful myotonia|ACZ-responsive myotonia|Acetazolamide-responsive congenital myotonia|ACZ-responsive congenital myotonia|painful congenital myotonia|myotonia-painful contractions syndrome	http://purl.obolibrary.org/obo/MONDO_0020483	http://identifiers.org/snomedct/715793003|Orphanet:99736	ordo_disease
MONDO:0020482	biolink:Disease	myotonia permanens	Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).	SCTID:715789009|UMLS:CN207354|Orphanet:99735	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020482	http://identifiers.org/snomedct/715789009|Orphanet:99735|UMLS:CN207354	ordo_disease
MONDO:0020479	biolink:Disease	pituitary gigantism	The condition of accelerated and excessive growth in children or adolescents who are exposed to excess human growth hormone before the closure of epiphyses. It is usually caused by somatotroph hyperplasia or a growth hormone-secreting pituitary adenoma. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age.	Orphanet:99725|SCTID:86073008|GARD:0006506|NCIT:C93046|MedDRA:10018265|MESH:D005877|OMIM:102200	mondo.json	infantile and juvenile forms of acromegaly|hypophyseal gigantism|gigantism	http://purl.obolibrary.org/obo/MONDO_0020479	Orphanet:99725|http://identifiers.org/snomedct/86073008|http://identifiers.org/mesh/D005877|NCIT:C93046	ordo_disease
NBO:0000388	biolink:NamedThing	involuntary movement behavior	"Behavior related to movements that occur independent of planning." [NBO:GVG]		mondo.json		http://purl.obolibrary.org/obo/NBO_0000388		
MONDO:0019499	biolink:Disease	Turner syndrome	Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome.	SCTID:38804009|NCIT:C26900|GARD:0002459|UMLS:C0041408|GARD:0002458|MESH:D014424|GARD:0002540|GARD:0007831|ICD9:758.7|Orphanet:881|DOID:3491|MedDRA:10045181	mondo.json	45,X0 syndrome|karyotype 45, X|monosomy X syndrome|Bonnevie-Ullrich syndrome|gonadal dysgenesis Turner type|genital dwarfism|Turner Varny syndrome|gonadal dysgenesis|45X syndrome|XO syndrome|45,X gonadal dysgenesis|chromosome X monosomy X|45,X/46,XX syndrome|gonadal dysgenesis - Turner|gonadal dysgenesis (45,X)|45, X syndrome|monosomy X|Schereshevkii Turner syndrome|45,X syndrome|Bonnevie-Ulrich syndrome|Ullrich-Turner syndrome|genital dwarfism, Turner type	http://purl.obolibrary.org/obo/MONDO_0019499	http://identifiers.org/mesh/D014424|UMLS:C0041408|http://identifiers.org/snomedct/38804009|Orphanet:881|DOID:3491|NCIT:C26900	gard_rare|ordo_malformation_syndrome
MONDO:0019496	biolink:Disease	neuroendocrine neoplasm	Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion).	SCTID:255046005|ICD9:209-209.99|ICD9:209|NCIT:C3809|MESH:D018358|Orphanet:877|ICD9:239.7|UMLS:C0003650|DOID:169|EFO:1001901|UMLS:C0206754|UMLS:CN206284	mondo.json	APUDoma|neuroendocrine tumor|neuroendocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0019496	NCIT:C3809|DOID:169|http://identifiers.org/snomedct/255046005|Orphanet:877|UMLS:C0206754|UMLS:CN206284|http://identifiers.org/mesh/D018358|UMLS:C0003650	ordo_group_of_disorders|disease_grouping
MONDO:0019495	biolink:Disease	obsolete yolk sac tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019495		
MONDO:0019498	biolink:Disease	tungiasis	An disease or disorder caused by infection with Tunga penetrans.	EFO:1001445|Orphanet:879|ICD9:134.1|MESH:D058285|SCTID:64612002|UMLS:C0277356|DOID:0050266|GARD:0000393	mondo.json	Sarcopsylla penetrans|Tunga penetrans infectious disease|Tunga penetrans|Tunga penetrans caused disease or disorder|chigger flea|T penetrans|S penetrans|Tunga penetrans disease or disorder	http://purl.obolibrary.org/obo/MONDO_0019498	DOID:0050266|UMLS:C0277356|Orphanet:879|http://identifiers.org/snomedct/64612002|http://identifiers.org/mesh/D058285	ordo_disease|gard_rare
HGNC:20509	biolink:NamedThing	ZC3H14			mondo.json		http://identifiers.org/hgnc/20509		
MONDO:0019497	biolink:Disease	nonsyndromic genetic hearing loss	A disease characterized by hearing loss that is not part of a larger syndrome.	EFO:0009076|DOID:0050563|Orphanet:87884|UMLS:CN043648|GARD:0006410|MESH:C580334	mondo.json	nonsyndromic deafness|isolated genetic deafness|nonsyndromic hearing loss|non-syndromic genetic deafness|nonsyndromic genetic deafness|nonsyndromic hereditary hearing loss|familial deafness	http://purl.obolibrary.org/obo/MONDO_0019497	Orphanet:87884|DOID:0050563|UMLS:CN043648|http://identifiers.org/mesh/C580334	gard_rare|ordo_group_of_disorders|disease_grouping
MONDO:0020470	biolink:Disease	49,XYYYY syndrome	49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.	UMLS:C4518342|UMLS:CN207332|SCTID:734028007|Orphanet:99330	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020470	UMLS:CN207332|http://identifiers.org/snomedct/734028007|UMLS:C4518342|Orphanet:99330	ordo_malformation_syndrome
MONDO:0019481	biolink:Disease	obsolete follicular dendritic cell sarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019481		
MONDO:0019480	biolink:Disease	Langerhans cell sarcoma	A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001)	NCIT:C6921|Orphanet:86897|ICDO:9756/3|DOID:7146|SCTID:724649000|EFO:0007336|MESH:D054752|GARD:0010491|UMLS:C1260327|ONCOTREE:LCS	mondo.json	sarcoma of Langerhans cell|LCS|Langerhans cell sarcoma|malignant Langerhans cell sarcoma	http://purl.obolibrary.org/obo/MONDO_0019480	http://identifiers.org/snomedct/724649000|Orphanet:86897|http://identifiers.org/mesh/D054752|NCIT:C6921|DOID:7146|UMLS:C1260327	gard_rare|ordo_disease
MONDO:0019483	biolink:Disease	methotrexate-associated lymphoproliferative disorders	Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients.	DOID:5821|NCIT:C7184|UMLS:C1334749|UMLS:CN206264|Orphanet:86904	mondo.json	MTX-associated lymphoproliferative disorders|methotrexate-associated lymphoproliferation|MTX-LPD|methotrexate-associated lymphoproliferative disorder	http://purl.obolibrary.org/obo/MONDO_0019483	UMLS:C1334749|Orphanet:86904|DOID:5821|NCIT:C7184|UMLS:CN206264	ordo_disease
MONDO:0019482	biolink:Disease	dendritic cell sarcoma not otherwise specified		Orphanet:86903	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019482	Orphanet:86903	ordo_disease
NBO:0000389	biolink:NamedThing	reflexive behavior	"Behavior related to involuntary movement in response to a stimulus." [NBO:GVG]		mondo.json	reflex behaviour	http://purl.obolibrary.org/obo/NBO_0000389		
MONDO:0020478	biolink:Disease	Leber plus disease	Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.	UMLS:CN207347|DOID:0111754|UMLS:C4304725|ICD10CM:H47.2|SCTID:719430008|Orphanet:99718	mondo.json	LHON plus disease	http://purl.obolibrary.org/obo/MONDO_0020478	Orphanet:99718|UMLS:CN207347|UMLS:C4304725|http://identifiers.org/snomedct/719430008|DOID:0111754	ordo_disease
CHR:9606-chr14q1	biolink:NamedThing	14q1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr14q1		
MONDO:0020477	biolink:Disease	progeria-associated arthropathy		Orphanet:99706	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020477	Orphanet:99706	ordo_disease
CHR:9606-chr14q3	biolink:NamedThing	14q3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr14q3		
MONDO:0020476	biolink:Disease	mesial temporal lobe epilepsy with hippocampal sclerosis	Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits.	Orphanet:99701	mondo.json	MTLE-HS	http://purl.obolibrary.org/obo/MONDO_0020476	Orphanet:99701	ordo_disease
MONDO:0020475	biolink:Disease	dermotrichic syndrome		Orphanet:99688|UMLS:CN207344	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020475	UMLS:CN207344|Orphanet:99688	ordo_malformation_syndrome
MONDO:0020474	biolink:Disease	cheirospondyloenchondromatosis	Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability.	Orphanet:99647|UMLS:C4510810|SCTID:725104005	mondo.json	generalized enchondromatosis with platyspondyly	http://purl.obolibrary.org/obo/MONDO_0020474	http://identifiers.org/snomedct/725104005|UMLS:C4510810|Orphanet:99647	ordo_disease
NCBITaxon:29105	biolink:OrganismalEntity	Calomys		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_29105		
MONDO:0020473	biolink:Disease	dappled diaphyseal dysplasia		SCTID:389262009|Orphanet:99645|ICD9:756.59|UMLS:C1300227	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020473	UMLS:C1300227|http://identifiers.org/snomedct/389262009|Orphanet:99645	ordo_disease
MONDO:0020472	biolink:Disease	Turner syndrome due to structural X chromosome anomalies		UMLS:CN207336|Orphanet:99413	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020472	UMLS:CN207336|Orphanet:99413	ordo_etiological_subtype
MONDO:0020471	biolink:Disease	obsolete pituitary adenoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020471		
MONDO:0020469	biolink:Disease	48,XYYY syndrome	48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.	UMLS:C4518082|GARD:0011985|Orphanet:99329|SCTID:733625003|UMLS:CN207331	mondo.json	48,XYYY	http://purl.obolibrary.org/obo/MONDO_0020469	Orphanet:99329|http://identifiers.org/snomedct/733625003|UMLS:CN207331|UMLS:C4518082	ordo_malformation_syndrome
MONDO:0020468	biolink:Disease	paternal uniparental disomy of chromosome 13	Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.	Orphanet:99324	mondo.json	paternal uniparental disomy of chromosome type 13|UPD(13)pat	http://purl.obolibrary.org/obo/MONDO_0020468	Orphanet:99324	ordo_malformation_syndrome
MONDO:0019489	biolink:Disease	diffuse palmoplantar keratoderma - acrocyanosis syndrome	Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant.	UMLS:CN206272|Orphanet:86918	mondo.json	diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome	http://purl.obolibrary.org/obo/MONDO_0019489	Orphanet:86918|UMLS:CN206272	ordo_disease
FOODON:03411261	biolink:NamedThing	fungus	A member of the group of eukaryotic organisms in the kingdom Fungi that includes unicellular microorganisms such as yeasts and molds, as well as multicellular fungi that produce familiar fruiting forms known as mushrooms.		mondo.json	fungi	http://purl.obolibrary.org/obo/FOODON_03411261		
MONDO:0019488	biolink:Disease	myoclonic epilepsy in non-progressive encephalopathies	A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances.	Orphanet:86913	mondo.json	myoclonic status in non-progressive encephalopathies|myoclonus epilepsy in non-progressive encephalopathies	http://purl.obolibrary.org/obo/MONDO_0019488	Orphanet:86913	ordo_malformation_syndrome
MONDO:0019485	biolink:Disease	idiopathic hemiconvulsion-hemiplegia syndrome	A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory.	Orphanet:86908|SCTID:230407006	mondo.json	IHHS|HHE syndrome|hemiconvulsion-hemiplegia-epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0019485	Orphanet:86908|http://identifiers.org/snomedct/230407006	ordo_disease
MONDO:0019484	biolink:Disease	hypothalamic hamartomas with gelastic seizures	A rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty.	Orphanet:86906	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019484	Orphanet:86906	ordo_disease
MONDO:0019487	biolink:Disease	epilepsy with myoclonic absences		Orphanet:86911|SCTID:230422001	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019487	Orphanet:86911|http://identifiers.org/snomedct/230422001	ordo_disease
MONDO:0019486	biolink:Disease	myoclonic epilepsy of infancy		Orphanet:86909|UMLS:CN206266	mondo.json	benign myoclonus epilepsy of infancy|benign myoclonic epilepsy of infancy	http://purl.obolibrary.org/obo/MONDO_0019486	Orphanet:86909|UMLS:CN206266	ordo_disease
GO:0030162	biolink:NamedThing	regulation of proteolysis	Any process that modulates the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein.		mondo.json	regulation of peptidolysis	http://purl.obolibrary.org/obo/GO_0030162		
MONDO:0019470	biolink:Disease	aggressive NK-cell leukemia	A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen.	ICDO:9948/3|UMLS:C1522378|UMLS:C1292777|MedDRA:10028811|DOID:1035|Orphanet:86873|GARD:0010493|SCTID:721310007|NCIT:C8647|ONCOTREE:ANKL	mondo.json	NK-cell leukemia|ANKCL|aggressive NK-cell lymphoma|leukemia (disease) of natural killer cell|NK-cell large granular lymphocyte leukemia|NK cell leukemia|aggressive NK cell leukemia|aggressive NK-cell leukemia|ANKL|NK-cell LGL leukemia|aggressive NK-cell leukemia (morphologic abnormality)|aggressive NK-cell leukemia/lymphoma|natural killer cell leukemia (disease)|large granular lymphocyte leukemia, NK-cell type|aggressive natural killer cell leukemia|natural Killer cell leukemia|natural killer cell leukemia	http://purl.obolibrary.org/obo/MONDO_0019470	http://identifiers.org/snomedct/721310007|Orphanet:86873|NCIT:C8647|DOID:1035|UMLS:C1292777	gard_rare|ordo_disease
MONDO:0019472	biolink:Disease	extranodal nasal NK/T cell lymphoma	Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described.	GARD:0013270|UMLS:C0392788|Orphanet:86879|NCIT:C4684|ICDO:9719/3|MedDRA:10065855	mondo.json	reticulosis, malignant|NKTCL|lethal midline granuloma|Extranodal NK/T lymphoma-nasal|Extranodal NK/T-cell lymphoma, nasal type|angiocentric T-cell lymphoma|nasal type Extranodal NK/T-cell lymphoma|nasal T/natural killer-cell lymphoma|NK/T-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0019472	UMLS:C0392788|Orphanet:86879|NCIT:C4684	ordo_disease
NCBITaxon:1868215	biolink:OrganismalEntity	Orthopneumovirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1868215		
MONDO:0019471	biolink:Disease	adult T-cell leukemia/lymphoma	A peripheral (mature) T-cell neoplasm linked to the human T-cell leukemia virus type 1 (HTLV-1), adult T-cell leukemia/lymphoma is endemic in several regions of the world, in particular Japan, the Caribbean, and parts of Central Africa.	NCIT:C3184|MedDRA:10001413|DOID:0050523|ICD9:204.80|Orphanet:86875|GARD:0013103|ONCOTREE:ATLL|ICDO:9827/3|UMLS:C0023493|SCTID:110007008	mondo.json	adult T-cell lymphoma|adult T-cell leukaemia/lymphoma (HTLV-1 positive)|HTLV-1 associated adult T-cell lymphoma/leukemia|HTLV-I associated adult T-cell leukemia/lymphoma|T-cell leukemia of adults|adult T cell lymphoma/leukemia|ATLL|adult T-cell lymphoma/leukemia|adult T-cell leukemia/lymphoma|adult T-cell leukaemia|adult T-cell leukemia	http://purl.obolibrary.org/obo/MONDO_0019471	Orphanet:86875|DOID:0050523|UMLS:C0023493|NCIT:C3184|http://identifiers.org/snomedct/110007008	ordo_disease
MONDO:0007489	biolink:Disease	dysplasia epiphysealis hemimelica	Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity. The cause of dysplasia epiphysealis hemimelica is not known.	Orphanet:1822|OMIM:127800|GARD:0002019|MESH:C537997|SCTID:205480005|UMLS:C0432282|ICD9:756.59	mondo.json	Trevor disease|dysplasia epiphysealis hemimelica	http://purl.obolibrary.org/obo/MONDO_0007489	https://omim.org/entry/127800|Orphanet:1822|http://identifiers.org/snomedct/205480005|http://identifiers.org/mesh/C537997|UMLS:C0432282	ordo_malformation_syndrome|gard_rare
GO:0042101	biolink:NamedThing	T cell receptor complex	A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains.		mondo.json	T-lymphocyte receptor complex|TCR complex|T lymphocyte receptor complex|T-cell receptor complex|TCR	http://purl.obolibrary.org/obo/GO_0042101		
MONDO:0020467	biolink:Disease	mosaic monosomy X		Orphanet:99228|SCTID:710010005|UMLS:C4040907|UMLS:CN776903	mondo.json	Mosaic monosomy type X|XX/XO|Mosaic Turner syndrome	http://purl.obolibrary.org/obo/MONDO_0020467	http://identifiers.org/snomedct/710010005|UMLS:CN776903|UMLS:C4040907|Orphanet:99228	ordo_etiological_subtype
MONDO:0020466	biolink:Disease	monosomy X		NCIT:C36630|Orphanet:99226|UMLS:CN776902|SCTID:710008008	mondo.json	monosomy type X	http://purl.obolibrary.org/obo/MONDO_0020466	http://identifiers.org/snomedct/710008008|UMLS:CN776902|Orphanet:99226	ordo_etiological_subtype
MONDO:0007487	biolink:Disease	dyslexia, susceptibility to, 1		OMIM:127700	mondo.json	DYX1|Word-blindness, congenital|dyslexia, susceptibility to, 7|dyslexia, susceptibility to, 4|dyslexia, susceptibility to, type 1|dyslexia, susceptibility to, 1|susceptibility to dyslexia 1|reading disability, specific, 1	http://purl.obolibrary.org/obo/MONDO_0007487	https://omim.org/entry/127700	predisposition
MONDO:0020465	biolink:Disease	congenital eyelid retraction	Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.	SCTID:715769008|Orphanet:99176	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020465	Orphanet:99176|http://identifiers.org/snomedct/715769008	ordo_morphological_anomaly
MONDO:0020464	biolink:Disease	euryblepharon	Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment.	UMLS:CN207327|SCTID:400954002|Orphanet:99172	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020464	UMLS:CN207327|http://identifiers.org/snomedct/400954002|Orphanet:99172	ordo_morphological_anomaly
MONDO:0007488	biolink:Disease	Lewy body dementia	A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease.	ICD10CM:G31.83|EFO:0006792|UMLS:C0752347|NCIT:C84826|Orphanet:1648|ICD9:331.82|OMIM:127750|SCTID:312991009|DOID:12217|GARD:0003243	mondo.json	lewy body dementia, susceptibility to|diffuse Lewy body disease|Lewy body dementia|Lewy body disease|DLB|dementia, Lewy body|diffuse Lewy body disease with gaze palsy|Lewy body variant of Alzheimer disease|dementia with Lewy bodies|cortical Lewy body disease|Senile dementia of the Lewy body type	http://purl.obolibrary.org/obo/MONDO_0007488	https://omim.org/entry/127750|NCIT:C84826|http://purl.bioontology.org/ontology/ICD10CM/G31.83|http://identifiers.org/snomedct/312991009|UMLS:C0752347|Orphanet:1648|DOID:12217	
GO:0044763	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0044763		
MONDO:0007485	biolink:Disease	dyskeratosis congenita, autosomal dominant 1	A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2.	GARD:0006299|SCTID:707273001|DOID:0070014|MESH:C565079|OMIM:127550	mondo.json	DKCA|autosomal dominant dyskeratosis congenita 1|dyskeratosis congenita, autosomal dominant 1|dyskeratosis congenita, autosomal dominant type 1|dyskeratosis congenita, Scoggins type|DKCA1|autosomal dominant dyskeratosis congenita|dyskeratosis congenita autosomal dominant|dyskeratosis congenita Scoggins type	http://purl.obolibrary.org/obo/MONDO_0007485	DOID:0070014|http://identifiers.org/snomedct/707273001|http://identifiers.org/mesh/C565079|https://omim.org/entry/127550	gard_rare|prototype_pattern
MONDO:0020463	biolink:Disease	isolated congenital ectropion	A congenital ectropion that is not part of a larger syndrome.	Orphanet:99171	mondo.json	nonsyndromic congenital ectropion	http://purl.obolibrary.org/obo/MONDO_0020463	Orphanet:99171	ordo_morphological_anomaly
MONDO:0020462	biolink:Disease	tarsal kink syndrome	Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.	Orphanet:99170|UMLS:CN207325	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020462	UMLS:CN207325|Orphanet:99170	ordo_morphological_anomaly
MONDO:0007486	biolink:Disease	hereditary benign intraepithelial dyskeratosis	A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported.	NCIT:C3940|OMIM:127600|SCTID:400014002|MESH:C562551|Orphanet:352657|UMLS:C0265966	mondo.json	HBID|hereditary benign corneal intraepithelial dyskeratosis|dyskeratosis, hereditary benign intraepithelial|Witkop-Von Sallmann disease|Dkbi	http://purl.obolibrary.org/obo/MONDO_0007486	http://identifiers.org/snomedct/400014002|Orphanet:352657|NCIT:C3940|UMLS:C0265966|https://omim.org/entry/127600|http://identifiers.org/mesh/C562551	ordo_disease
MONDO:0007483	biolink:Disease	dyschromatosis symmetrica hereditaria	Acropigmentation of Dohi is a genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.	NCIT:C118435|Orphanet:41|OMIM:127400|DOID:0060257|GARD:0000334|SCTID:239085000|EFO:0008878|UMLS:C0406775|MESH:C535729	mondo.json	RAD|familial reticulate acropigmentation of Dohi|DSH|acropigmentation of Dohi|dyschromatosis symmetrica hereditaria 1|symmetric dyschromatosis of the extremities|dyschromatosis symmetrica hereditaria|DSH1|reticulate acropigmentation of Dohi	http://purl.obolibrary.org/obo/MONDO_0007483	NCIT:C118435|UMLS:C0406775|http://identifiers.org/snomedct/239085000|DOID:0060257|http://identifiers.org/mesh/C535729|https://omim.org/entry/127400|Orphanet:41	ordo_disease
MONDO:0020461	biolink:Disease	epiblepharon		SCTID:253212001|Orphanet:99169|ICD9:743.63	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020461	http://identifiers.org/snomedct/253212001|Orphanet:99169	ordo_morphological_anomaly
MONDO:0007484	biolink:Disease	obsolete dyschromatosis universalis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007484		
MONDO:0020460	biolink:Disease	acquired von willebrand syndrome	Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies.	UMLS:C0272362|GARD:5573|Orphanet:99147|GARD:0005573|DOID:0111146|PMID:28028990|SCTID:234451005|MedDRA:10069495	mondo.json	acquired von Willebrand disease|acquired von Willebrand disease (hereditary or acquired)|AVWS|acquired von willebrand disease|Willebrand disease, acquired	http://purl.obolibrary.org/obo/MONDO_0020460	DOID:0111146|UMLS:C0272362|Orphanet:99147|http://identifiers.org/snomedct/234451005	ordo_disease|gard_rare
MONDO:0007481	biolink:Disease	Leri-Weill dyschondrosteosis	Leri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.	UMLS:C0265309|SCTID:17818006|Orphanet:240|GARD:0003224|NCIT:C126560|ICD9:756.59|DECIPHER:58|OMIM:127300|DOID:0060847	mondo.json	Leri-Weill syndrome|Léri-Weill syndrome|Léri-Weill dyschondrosteosis|Leri-Weill dyschondrosteosis, Pseudoautosomal dominant|Leri-Weill dyschondrosteosis|Leri-Weill dyschondrostosis|Leri Weill dyschondrosteosis|LWD|DCo|Madelung deformity|dyschondrosteosis	http://purl.obolibrary.org/obo/MONDO_0007481	Orphanet:240|UMLS:C0265309|http://identifiers.org/snomedct/17818006|https://omim.org/entry/127300|NCIT:C126560|DOID:0060847	ordo_malformation_syndrome|gard_rare
MONDO:0007482	biolink:Disease	dyschondrosteosis-nephritis syndrome	Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis.	MESH:C565080|Orphanet:1765|GARD:0001994|OMIM:127350|UMLS:C1851986	mondo.json	dyschondrosteosis nephritis|dyschondrosteosis and nephritis|mesomelic shortening and hereditary nephritis	http://purl.obolibrary.org/obo/MONDO_0007482	UMLS:C1851986|Orphanet:1765|http://identifiers.org/mesh/C565080|https://omim.org/entry/127350	gard_rare|ordo_malformation_syndrome
MONDO:0007480	biolink:Disease	dwarfism with stiff joints and ocular abnormalities		ICD9:759.89|MESH:C535724|OMIM:127200|Orphanet:2569|SCTID:72913007	mondo.json	Moore-Federman syndrome|dwarfism with stiff joints and ocular abnormalities	http://purl.obolibrary.org/obo/MONDO_0007480	http://identifiers.org/mesh/C535724|https://omim.org/entry/127200|http://identifiers.org/snomedct/72913007	
GO:0042105	biolink:NamedThing	alpha-beta T cell receptor complex	A T cell receptor complex in which the TCR heterodimer comprises alpha and beta chains, associated with the CD3 complex; recognizes a complex consisting of an antigen-derived peptide bound to a class I or class II MHC protein.		mondo.json	alpha-beta T-lymphocyte receptor complex|alpha-beta TCR complex|alpha-beta T lymphocyte receptor complex|alpha-beta T-cell receptor complex	http://purl.obolibrary.org/obo/GO_0042105		
MONDO:0020459	biolink:Disease	unstable hemoglobin disease		SCTID:18273004|ICD9:282.7|Orphanet:99139|UMLS:C0272006	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020459	Orphanet:99139|http://identifiers.org/snomedct/18273004|UMLS:C0272006	ordo_disease
MONDO:0020458	biolink:Disease	hemolytic anemia due to erythrocyte adenosine deaminase overproduction	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected.	OMIM:102730|UMLS:CN207319|MESH:C566314|Orphanet:99138|OMIM:301083|UMLS:C1863235	mondo.json	adenosine deaminase, elevated, hemolytic anemia due to	http://purl.obolibrary.org/obo/MONDO_0020458	Orphanet:99138|http://identifiers.org/mesh/C566314|https://omim.org/entry/301083|UMLS:CN207319|UMLS:C1863235	ordo_disease
MONDO:0020457	biolink:Disease	6-phosphogluconate dehydrogenase deficiency		Orphanet:99135	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020457	Orphanet:99135	ordo_disease
MONDO:0019478	biolink:Disease	adult nodular lymphocyte predominant Hodgkin lymphoma	A nodular lymphocyte predominant Hodgkin lymphoma occurring in adults.	UMLS:C1332210|MEDGEN:231044|NCIT:C7942	mondo.json	adult nodular lymphocyte predominant Hodgkin's lymphoma|adult nodular lymphocyte predominant Hodgkin's disease|adult NLPHD|nodular lymphocyte predominant Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0019478	UMLS:C1332210|NCIT:C7942	ordo_disease
MONDO:0019477	biolink:Disease	obsolete angioimmunoblastic T-cell lymphoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019477		
GO:0030154	biolink:NamedThing	cell differentiation	The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.		mondo.json		http://purl.obolibrary.org/obo/GO_0030154		
MONDO:0019479	biolink:Disease	histiocytic sarcoma	An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.	NCIT:C27349|ONCOTREE:HS|ICD10CM:C96.A|UMLS:C0334663|SCTID:109988003|ICD9:171.9|ICDO:9755/3|Orphanet:86896|MESH:D054747	mondo.json	histiocytic sarcoma|sarcoma, histiocytic, malignant	http://purl.obolibrary.org/obo/MONDO_0019479	UMLS:C0334663|http://identifiers.org/snomedct/109988003|Orphanet:86896|http://identifiers.org/mesh/D054747|http://purl.bioontology.org/ontology/ICD10CM/C96.A|NCIT:C27349	ordo_disease
GO:0030155	biolink:NamedThing	regulation of cell adhesion	Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix.		mondo.json	cell adhesion receptor regulator activity	http://purl.obolibrary.org/obo/GO_0030155		
MONDO:0019474	biolink:Disease	hepatosplenic T-cell lymphoma	An extranodal, mature T-cell non-Hodgkin lymphoma that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. It is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids. A similar infiltrating pattern is also present in the spleen and bone marrow that are usually involved at the time of the diagnosis.	UMLS:C1333984|ICDO:9716/3|ICD9:202.80|SCTID:445406001|Orphanet:86882|ONCOTREE:HSTCL|MedDRA:10066957|ICD10CM:C86.1|NCIT:C8459	mondo.json	Hepatosplenic gamma/Delta T-cell lymphoma|HSTCL	http://purl.obolibrary.org/obo/MONDO_0019474	UMLS:C1333984|Orphanet:86882|NCIT:C8459|http://identifiers.org/snomedct/445406001|http://purl.bioontology.org/ontology/ICD10CM/C86.1	ordo_disease
MONDO:0019473	biolink:Disease	enteropathy-associated T-cell lymphoma	An uncommon mature T-cell lymphoma of intraepithelial lymphocytes. It usually arises from the small intestine, most commonly the jejunum or ileum. Other less frequent primary anatomic sites include the duodenum, stomach, colon, or outside the gastrointestinal tract. It is seen with increased frequency in regions with a high prevalence of celiac disease.	GARD:0009809|SCTID:277654008|UMLS:C0456889|ICD9:202.70|ICDO:9717/3|ONCOTREE:EATL|NCIT:C4737|Orphanet:86880|MESH:D058527|MedDRA:10022703	mondo.json	EATL|EATCL|ETTL|enteropathy-associated T-cell lymphoma, type I|enteropathy-type T-cell lymphoma|EATL, type I|enteropathy associated T-cell lymphoma|intestinal T-cell lymphoma|high-grade pleomorphic peripheral T-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0019473	NCIT:C4737|Orphanet:86880|UMLS:C0456889|http://identifiers.org/snomedct/277654008|http://identifiers.org/mesh/D058527	gard_rare|ordo_disease
MONDO:0019476	biolink:Disease	primary cutaneous peripheral T-cell lymphoma not otherwise specified		MESH:D016411|ICD10CM:C84.4|MedDRA:10034623|Orphanet:86885	mondo.json	primary cutaneous unspecified peripheral T-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0019476	Orphanet:86885	ordo_disease
MONDO:0019475	biolink:Disease	subcutaneous panniculitis-like T-cell lymphoma	Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue.	OMIM:618398|SCTID:404133000|NCIT:C6918|ICD9:202.70|EFO:1000552|UMLS:C0522624|MESH:C537503|Orphanet:86884|ICDO:9708/3|ONCOTREE:SPTCL|ICD10CM:C86.3|GARD:0010193	mondo.json	subcutaneous panniculitis-like T-cell lymphoma, Alpha/Beta type|subcutaneous panniculitic T-cell lymphoma|subcutaneous panniculitis-like T-cell lymphoma|subcutaneous panniculitis-like T-cell lymphoma (Alpha/Beta type)|SPTCL|T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE	http://purl.obolibrary.org/obo/MONDO_0019475	https://omim.org/entry/618398|http://identifiers.org/mesh/C537503|Orphanet:86884|http://identifiers.org/snomedct/404133000|http://purl.bioontology.org/ontology/ICD10CM/C86.3|UMLS:C0522624|NCIT:C6918	ordo_disease
MONDO:0019461	biolink:Disease	B-cell prolymphocytic leukemia	A neoplasm of prolymphocytes affecting the blood, bone marrow, and spleen. It is characterized by prolymphocytes exceeding 55% of the lymphoid cells in the blood and profound splenomegaly.	SCTID:277619001|EFO:1000102|ICDO:9833/3|Orphanet:86852|UMLS:C0475801|NCIT:C4753|ONCOTREE:BPLL|MESH:D054403	mondo.json	B prolymphocytic leukemia|B-PLL|BPLL|B-cell prolymphocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0019461	NCIT:C4753|http://identifiers.org/snomedct/277619001|Orphanet:86852|http://identifiers.org/mesh/D054403|UMLS:C0475801	ordo_disease
MONDO:0019460	biolink:Disease	acute leukemia of ambiguous lineage	An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)	MedDRA:10067399|SCTID:721308005|GARD:0008638|UMLS:C1301357|Orphanet:86851|NCIT:C7464	mondo.json	BAL|biphenotypic acute leukemia|mixed lineage acute leukemia|mixed phenotype acute leukemia|acute leukemia of ambiguous lineage|acute leukemia of undetermined lineage|acute leukemia of indeterminate lineage|hybrid acute leukemia|AML with lymphoid markers|ALL with myeloid markers	http://purl.obolibrary.org/obo/MONDO_0019460	Orphanet:86851|UMLS:C1301357|NCIT:C7464|http://identifiers.org/snomedct/721308005	ordo_group_of_disorders|disease_grouping
GO:0030148	biolink:NamedThing	sphingolipid biosynthetic process	The chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid).		mondo.json	sphingolipid synthesis|sphingolipid formation|sphingolipid biosynthesis|sphingolipid anabolism	http://purl.obolibrary.org/obo/GO_0030148		
HGNC:20502	biolink:NamedThing	SLC39A5			mondo.json		http://identifiers.org/hgnc/20502		
MONDO:0020456	biolink:Disease	pleuro-pericardial cyst	Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur.	Orphanet:99131	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020456	Orphanet:99131	ordo_morphological_anomaly
MONDO:0020455	biolink:Disease	congenital partial agenesis of pericardium	Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare.	Orphanet:99130	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020455	Orphanet:99130	ordo_morphological_anomaly
MONDO:0020454	biolink:Disease	congenital complete agenesis of pericardium	Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy.	Orphanet:99129	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020454	Orphanet:99129	ordo_morphological_anomaly
MONDO:0007498	biolink:Disease	ear exostoses		OMIM:128300|UMLS:C0155411	mondo.json	ear exostoses|exostoses of external auditory canal	http://purl.obolibrary.org/obo/MONDO_0007498	https://omim.org/entry/128300|UMLS:C0155411	
MONDO:0020453	biolink:Disease	congenital partial pulmonary venous return anomaly	Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea.	Orphanet:99124|SCTID:68237008|NCIT:C99004	mondo.json	Partial anomalous pulmonary Venous connection|Partial anomalous pulmonary Venous return	http://purl.obolibrary.org/obo/MONDO_0020453	http://identifiers.org/snomedct/68237008|NCIT:C99004|Orphanet:99124	ordo_morphological_anomaly
GO:0042113	biolink:NamedThing	B cell activation	The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.		mondo.json	B lymphocyte activation|B-cell activation|B-lymphocyte activation	http://purl.obolibrary.org/obo/GO_0042113		
MONDO:0007499	biolink:Disease	ear folding		OMIM:128500	mondo.json	ear folding	http://purl.obolibrary.org/obo/MONDO_0007499	https://omim.org/entry/128500	
MONDO:0020452	biolink:Disease	inferior vena cava interruption		ICD9:747.49|Orphanet:99123|SCTID:93031005	mondo.json	IVC interruption|Inferior caval vein interruption	http://purl.obolibrary.org/obo/MONDO_0020452	http://identifiers.org/snomedct/93031005|Orphanet:99123	ordo_morphological_anomaly
MONDO:0007496	biolink:Disease	dystonia 12	Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.	Orphanet:71517|OMIM:128235|DOID:0090056|GARD:0009628|SCTID:702323008|UMLS:C1868681|MESH:C538001	mondo.json	dystonia-Parkinsonism, rapid-onset|dystonia 12|ATP1A3 dystonic disorder|rapid-onset dystonia-parkinsonism|dystonia-12|dystonia type 12|dystonic disorder caused by mutation in ATP1A3|DYT-ATP1A3|RDP|DYT12	http://purl.obolibrary.org/obo/MONDO_0007496	http://identifiers.org/mesh/C538001|UMLS:C1868681|DOID:0090056|https://omim.org/entry/128235|Orphanet:71517|http://identifiers.org/snomedct/702323008	ordo_disease
CHR:9606-chr14q11-q22	biolink:NamedThing	14q11-q22 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr14q11-q22		
MONDO:0007497	biolink:Disease	ear antitragus, tag at base of		OMIM:128290	mondo.json	ear antitragus, tag at base of	http://purl.obolibrary.org/obo/MONDO_0007497	https://omim.org/entry/128290	
MONDO:0020451	biolink:Disease	congenital stenosis of the inferior vena cava		ICD9:747.49|Orphanet:99122|SCTID:62335009	mondo.json	congenital stenosis of the IVC|congenital stenosis of the inferior caval vein	http://purl.obolibrary.org/obo/MONDO_0020451	http://identifiers.org/snomedct/62335009|Orphanet:99122	ordo_morphological_anomaly
MONDO:0007494	biolink:Disease	obsolete episodic kinesigenic dyskinesia 1			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007494		
GO:0042110	biolink:NamedThing	T cell activation	The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.		mondo.json	T-lymphocyte activation|T lymphocyte activation|T-cell activation	http://purl.obolibrary.org/obo/GO_0042110		
MONDO:0020450	biolink:Disease	azygos continuation of the inferior vena cava		Orphanet:99121	mondo.json	azygos continuation of the IVC|azygos continuation of the inferior caval vein	http://purl.obolibrary.org/obo/MONDO_0020450	Orphanet:99121	ordo_morphological_anomaly
MONDO:0007495	biolink:Disease	dystonia 5	Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.	SCTID:715768000|DOID:0090043|OMIM:128230|GARD:0012144|Orphanet:98808|UMLS:CN207122	mondo.json	dystonia 5|autosomal dominant dopa-responsive dystonia|autosomal dominant Segawa syndrome|dystonia, DOPA-responsive, with or without hyperphenylalaninemia|Dopa-responsive dystonia; Segawa syndrome AD|Segawa syndrome, autosomal dominant|GTPCH1-deficient dopa-responsive dystonia|DYT5a|HPD with marked diurnal fluctuation|dystonia, DOPA-responsive|Dopa-responsive dystonia, autosomal dominant|DYT-GCH1|dystonia, progressive, with diurnal variation|hereditary progressive dystonia with marked diurnal fluctuation|dystonia-Parkinsonism with diurnal fluctuation|DRD|dystonia, Dopa-responsive, autosomal dominant|dystonia type 5|GTPCH1-deficient DRD|GTP cyclohydrolase 1-deficient dopa-responsive dystonia	http://purl.obolibrary.org/obo/MONDO_0007495	http://identifiers.org/snomedct/715768000|UMLS:CN207122|Orphanet:98808|DOID:0090043|https://omim.org/entry/128230	ordo_disease
MONDO:0007492	biolink:Disease	early-onset generalized limb-onset dystonia	A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body.	UMLS:C0013423|UMLS:C3888090|DOID:0060730|GARD:0002027|OMIM:128100|Orphanet:256|NCIT:C116718|MESH:C538005	mondo.json	Early-onset torsion dystonia|early-onset primary dystonia|torsion dystonia type 1|dystonia-1, torsion|Oppenheim dystonia|idiopathic dystonia|dystonia musculorum deformans|idiopathic torsion dystonia|early onset torsion dystonia|dystonia 1, torsion, autosomal dominant|Dyt1|Early-onset Primary dystonia|idiopathic dystonia DYT1|dystonia 1, torsion, Autosomal dominant|DYT-TOR1A|dystonia musculorum deformans 1|early-onset generalized torsion dystonia|DYT-TOR1A dystonia|DYT1|EOTD|Primary torsion dystonia|Oppenheim's dystonia|torsion dystonia 1|early-onset generalized limb-onset dystonia|dystonia 1|early onset primary dystonia|early-onset torsion dystonia|torsion dystonia 1, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007492	UMLS:C0013423|Orphanet:256|NCIT:C116718|https://omim.org/entry/128100|DOID:0060730|UMLS:C3888090|http://identifiers.org/mesh/C538005	gard_rare|ordo_disease
MONDO:0007493	biolink:Disease	torsion dystonia 4	DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).	GARD:0010138|SCTID:719276005|UMLS:C1860315|OMIM:128101|UMLS:C1851943|DOID:0090041|Orphanet:98805	mondo.json	whispering dysphonia|whispering dysphonia, hereditary|dystonia 4, torsion, autosomal dominant|torsion dystonia type 4|dystonia musculorum deformans 4|DYT4|hereditary whispering dysphonia|autosomal dominant torsion dystonia-4|primary dystonia, DYT4 type	http://purl.obolibrary.org/obo/MONDO_0007493	UMLS:C1851943|http://identifiers.org/snomedct/719276005|UMLS:C1860315|Orphanet:98805|DOID:0090041|https://omim.org/entry/128101	ordo_disease
MONDO:0007490	biolink:Disease	carpotarsal osteochondromatosis	Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.	UMLS:C1300233|OMIM:127820|GARD:0001128|SCTID:389272007|Orphanet:2767|MESH:C565076	mondo.json	osteochondromatosis, dominant carpotarsal|Maroteaux Le Merrer Bensahel syndrome|dominant carpotarsal osteochondromatosis|dysplasia epiphysealis hemimelica with CHONDROMAS and osteochondromas|Maroteaux-Le Merrer-Bensahel syndrome	http://purl.obolibrary.org/obo/MONDO_0007490	http://identifiers.org/snomedct/389272007|Orphanet:2767|http://identifiers.org/mesh/C565076|UMLS:C1300233|https://omim.org/entry/127820	gard_rare|ordo_malformation_syndrome
MONDO:0007491	biolink:Disease	dystelephalangy		UMLS:C1851955|GARD:0010059|OMIM:128000|MESH:C538000	mondo.json	Kirner deformity|dystelephalangy|congenital bilateral metadiaphyseal acrodysplasia of the little finger	http://purl.obolibrary.org/obo/MONDO_0007491	https://omim.org/entry/128000|http://identifiers.org/mesh/C538000|UMLS:C1851955	gard_rare
MONDO:0020449	biolink:Disease	persistent eustachian valve		Orphanet:99120	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020449	Orphanet:99120	ordo_morphological_anomaly
GO:0042116	biolink:NamedThing	macrophage activation	A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor.		mondo.json	macrophage polarization	http://purl.obolibrary.org/obo/GO_0042116		
MONDO:0020448	biolink:Disease	right inferior vena cava connecting to left-sided atrium		Orphanet:99119	mondo.json	right IVC connecting to left-sided atrium|right inferior caval vein connecting to left-sided atrium	http://purl.obolibrary.org/obo/MONDO_0020448	Orphanet:99119	ordo_morphological_anomaly
MONDO:0020447	biolink:Disease	coronary sinus atresia		Orphanet:99118	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020447	Orphanet:99118	ordo_morphological_anomaly
MONDO:0020446	biolink:Disease	coronary sinus stenosis		Orphanet:99117	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020446	Orphanet:99117	ordo_morphological_anomaly
MONDO:0019467	biolink:Disease	CD4+/CD56+ hematodermic neoplasm	An aggressive immature hematologic neoplasm formerly known as blastic NK cell lymphoma, composed of cells with a lymphoblast-like morphology. Recent evidence suggests derivation from a plasmacytoid monocyte. Patients present with cutaneous tumors and bone marrow involvement.	ONCOTREE:BPDCN|ICDO:9727/3|UMLS:C1301363|ICD9:202.80|Orphanet:86870|SCTID:445105005|GARD:0010556|NCIT:C7203|UMLS:CN206246	mondo.json	blastic plasmacytoid dendritic cell|blastic NK-cell lymphoma|blastic natural Killer leukemia/lymphoma|CD4+/CD56+ hematodermic neoplasm|lymphoblastoid variant of NK-cell lymphoma|blastic plasmacytoid dendritic cell neoplasm|agranular CD4+ natural Killer cell leukemia|monomorphic NK-cell lymphoma|agranular CD4+ CD56+ hematodermic neoplasm/tumor|primary cutaneous CD4+/CD56+ hematolymphoid neoplasm|early plasmacytoid Dendritic cell leukemia/lymphoma|blastic plasmacytoid Dendritic cell neoplasm|BPDCN	http://purl.obolibrary.org/obo/MONDO_0019467	Orphanet:86870|UMLS:C1301363|NCIT:C7203|http://identifiers.org/snomedct/445105005|UMLS:CN206246	ordo_disease|gard_rare
MONDO:0019466	biolink:Disease	lymphomatoid granulomatosis	Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever.	MESH:D008230|NCIT:C7930|SCTID:239940004|Orphanet:86869|ONCOTREE:LYG|MedDRA:10025325|UMLS:C0024307|ICDO:9766/1|GARD:0006943	mondo.json	LYG	http://purl.obolibrary.org/obo/MONDO_0019466	http://identifiers.org/snomedct/239940004|http://identifiers.org/mesh/D008230|Orphanet:86869|UMLS:C0024307|NCIT:C7930	gard_rare|ordo_disease
MONDO:0019469	biolink:Disease	T-cell large granular lymphocyte leukemia	T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage.	ONCOTREE:TLGL|NCIT:C4664|MedDRA:10065862|UMLS:C1522378|UMLS:C1955861|ICD9:204.80|ICDO:9768/1|ICDO:9831/3|DOID:0050751|SCTID:277569004|ICDO:9831/1|GARD:0009812|Orphanet:86872	mondo.json	leukemia, large granular LYMPHOCYTIC, malignant|LGL leukemia|T gamma lymphoproliferative disorder|T-LGL|T-gamma lymphoproliferative disorder|T-cell large granular lymphocyte leukemia|T-cell LGL leukemia|large granular lymphocytosis|T-cell large gran. lymph. leuk.|large granular lymphocyte leukemia|TLGL|T-LGL leukemia|large granular lymphocytic leukemia|proliferation of large granular lymphocytes|large cell granular lymphoid leukemia|LGLL|T-cell large granular lymphocytic leukemia|large cell granular lymphogenous leukemia|Tgamma large granular lymphocyte leukemia	http://purl.obolibrary.org/obo/MONDO_0019469	UMLS:C1522378|NCIT:C4664|UMLS:C1955861|http://identifiers.org/snomedct/277569004|Orphanet:86872|DOID:0050751	ordo_disease
MONDO:0019468	biolink:Disease	T-cell prolymphocytic leukemia	A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line.	Orphanet:86871|UMLS:C2363142|ONCOTREE:TPLL|NCIT:C4752|MedDRA:10042985|NCIT:C70649|GARD:0008224|ICDO:9834/3|UMLS:C0023494|SCTID:277545003|EFO:1000560|MESH:D015461|SCTID:277567002	mondo.json	CLL, T-cell|T cell CLL|T-PLL|T prolymphocytic leukemia|T-cell CLL|chronic T-cell leukemia|chronic T-cell lymphocytic leukemia|leukemia, T-cell, chronic|T cell chronic lymphocytic leukemia|T cell prolymphocytic leukemia|T-cell prolymphocytic leukemia|TPLL|T-cell chronic lymphocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0019468	NCIT:C4752|http://identifiers.org/mesh/D015461|UMLS:C2363142|http://identifiers.org/snomedct/277545003|Orphanet:86871|http://identifiers.org/snomedct/277567002|UMLS:C0023494	ordo_disease
MONDO:0019463	biolink:Disease	non-amyloid monoclonal immunoglobulin deposition disease		UMLS:CN206242|Orphanet:86861	mondo.json	Randall disease|non-amyloid MIDD	http://purl.obolibrary.org/obo/MONDO_0019463	Orphanet:86861|UMLS:CN206242	ordo_disease
GO:0030141	biolink:NamedThing	secretory granule	A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules.		mondo.json	secretory vesicle	http://purl.obolibrary.org/obo/GO_0030141		
MONDO:0019462	biolink:Disease	splenic marginal zone lymphoma	Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated.	UMLS:C0349632|ONCOTREE:SMZL|SCTID:763666008|MedDRA:10062113|ICDO:9689/3|Orphanet:86854|EFO:1000550|DOID:0050750|NCIT:C4663	mondo.json	splenic lymphoma with circulating villous lymphocytes|splenic marginal zone lymphoma|SLVL|splenic marginal zone B-cell lymphoma|splenic marginal zone B-cell lymphoma with villous lymphocytes|SMZL|marginal zone lymphoma of spleen|splenic marginal zone lymphoma with villous lymphocytes|marginal zone lymphoma of the spleen	http://purl.obolibrary.org/obo/MONDO_0019462	NCIT:C4663|Orphanet:86854|http://identifiers.org/snomedct/763666008|DOID:0050750|UMLS:C0349632	ordo_disease
MONDO:0019465	biolink:Disease	nodal marginal zone B-cell lymphoma	Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported.	NCIT:C8863|MedDRA:10029460|SCTID:277623009|Orphanet:86867|DOID:0080211|ONCOTREE:NMZL|UMLS:C0855139	mondo.json	Monocytoid B-cell lymphoma|nodal marginal zone lymphoma|nodal marginal zone B-cell lymph.|NMZL|nodal marginal zone B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0019465	http://identifiers.org/snomedct/277623009|DOID:0080211|UMLS:C0855139|Orphanet:86867|NCIT:C8863	ordo_disease
MONDO:0019464	biolink:Disease	heavy chain disease	Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains.	SCTID:68979007|ICD10CM:C88.2|ICDO:9762/3|MedDRA:10019350|DOID:0060125|NCIT:C3082|Orphanet:86864|MESH:D006362|EFO:1001341|ICD9:273.2|UMLS:C0018852|ICD10CM:C88.3	mondo.json	HCD|heavy chain disease	http://purl.obolibrary.org/obo/MONDO_0019464	UMLS:C0018852|NCIT:C3082|http://identifiers.org/snomedct/68979007|Orphanet:86864|DOID:0060125|http://identifiers.org/mesh/D006362|http://purl.bioontology.org/ontology/ICD10CM/C88.2	ordo_disease
MONDO:0007508	biolink:Disease	Rapp-Hodgkin syndrome	A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate.	OMIM:129400|MESH:C535289|DOID:0060330|Orphanet:3022|SCTID:7731005|GARD:0005690|UMLS:CN203427|Orphanet:1991	mondo.json	cleft lip with or without cleft palate, nonsyndromic, 8|anhidrotic ectodermal dysplasia with cleft lip/palate|RHS|Rapp-Hodgkin ectodermal dysplasia syndrome|OFC8, included|ectodermal dysplasia, anhidrotic, with cleft Lip/palate|ectodermal dysplasia, anhidrotic, with cleft lip-palate|orofacial cleft 8|Rapp-Hodgkin syndrome	http://purl.obolibrary.org/obo/MONDO_0007508	DOID:0060330|Orphanet:3022|UMLS:CN203427|http://identifiers.org/snomedct/7731005|https://omim.org/entry/129400|http://identifiers.org/mesh/C535289	gard_rare|speculative
MONDO:0007509	biolink:Disease	ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant		UMLS:C3888065|GARD:0002048|DOID:0111663|OMIM:129490	mondo.json	ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|hypohidrotic ectodermal dysplasia autosomal dominant|ectodermal dysplasia hypohidrotic autosomal dominant|ECTD10A|ectodermal dysplasia, hypohidrotic, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007509	DOID:0111663|UMLS:C3888065|https://omim.org/entry/129490	
MONDO:0007506	biolink:Disease	obsoleted echo virus 11 sensitivity		MESH:C565071|OMIM:129150|UMLS:C1851888	mondo.json	echo virus 11 sensitivity|E11S	http://purl.obolibrary.org/obo/MONDO_0007506	UMLS:C1851888|https://omim.org/entry/129150|http://identifiers.org/mesh/C565071	
MONDO:0007507	biolink:Disease	absence of fingerprints-congenital milia syndrome	Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.	OMIM:129200|SCTID:239011004|Orphanet:1658|MESH:C537659|GARD:0002336	mondo.json	absence of dermatoglyphics congenital milia|Basan syndrome|Baird syndrome|absence of dermatoglyphics-congenital milia syndrome|ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and Simian Crease|absence of fingerprints congenital milia|adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities	http://purl.obolibrary.org/obo/MONDO_0007507	http://identifiers.org/snomedct/239011004|http://identifiers.org/mesh/C537659|Orphanet:1658|https://omim.org/entry/129200	gard_rare|ordo_disease
MONDO:0007504	biolink:Disease	thickened earlobes-conductive deafness syndrome	Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.	SCTID:722476007|GARD:0002195|Orphanet:2405|OMIM:128980	mondo.json	Escher-Hirt syndrome|earlobes, thickened, with conductive deafness from incudostapedial abnormalities|Escher Hirt syndrome	http://purl.obolibrary.org/obo/MONDO_0007504	https://omim.org/entry/128980|http://identifiers.org/snomedct/722476007|Orphanet:2405	ordo_malformation_syndrome
MONDO:0007505	biolink:Disease	earring holes, natural		OMIM:129000	mondo.json	earring holes, natural|earlobe sinuses	http://purl.obolibrary.org/obo/MONDO_0007505	https://omim.org/entry/129000	
MONDO:0007502	biolink:Disease	ear pits, posterior helical		OMIM:128710	mondo.json	ear pits, posterior helical|posterior helical Ear pits|earlobe Indentations, posterior	http://purl.obolibrary.org/obo/MONDO_0007502	https://omim.org/entry/128710	
HGNC:2548	biolink:NamedThing	CUBN			mondo.json		http://identifiers.org/hgnc/2548		
MONDO:0007503	biolink:Disease	ear without helix		OMIM:128800	mondo.json	ear without helix	http://purl.obolibrary.org/obo/MONDO_0007503	https://omim.org/entry/128800	
MONDO:0007500	biolink:Disease	ear malformation		ICD9:744.3|OMIM:128600|ICD9:744.29|SCTID:275259005	mondo.json	ear malformation|cup Ear	http://purl.obolibrary.org/obo/MONDO_0007500	http://identifiers.org/snomedct/275259005|https://omim.org/entry/128600	
MONDO:0007501	biolink:Disease	preauricular fistulae, congenital		MESH:C563015|OMIM:128700	mondo.json	Ear pits|preauricular fistulae, congenital|Pafc	http://purl.obolibrary.org/obo/MONDO_0007501	http://identifiers.org/mesh/C563015|https://omim.org/entry/128700	
FOODON:03460180	biolink:NamedThing	obsolete: food added		http://www.langual.org/langual_thesaurus.asp?termid=H0180	mondo.json		http://purl.obolibrary.org/obo/FOODON_03460180		
UBERON:0004385	biolink:AnatomicalEntity	epiphysis of radius			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004385		
UBERON:0004386	biolink:AnatomicalEntity	epiphysis of ulna			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004386		
UBERON:0004383	biolink:AnatomicalEntity	epiphysis of tibia			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004383		
UBERON:0004384	biolink:AnatomicalEntity	epiphysis of femur			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004384		
UBERON:0004381	biolink:AnatomicalEntity	skeleton of limb			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004381		
UBERON:0004382	biolink:AnatomicalEntity	epiphysis of humerus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004382		
UBERON:0004380	biolink:AnatomicalEntity	proximal epiphysis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004380		
HGNC:2555	biolink:NamedThing	CUL4B			mondo.json		http://identifiers.org/hgnc/2555		
HP:0004431	biolink:PhenotypicFeature	Complement deficiency	An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins.	UMLS:C0272242|SNOMEDCT_US:24743004	mondo.json		http://purl.obolibrary.org/obo/HP_0004431		
UBERON:0004389	biolink:AnatomicalEntity	epiphysis of metatarsal bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004389		
HGNC:2553	biolink:NamedThing	CUL3			mondo.json		http://identifiers.org/hgnc/2553		
HP:0004430	biolink:PhenotypicFeature	Severe combined immunodeficiency	A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.	SNOMEDCT_US:31323000|MSH:D016511|UMLS:C0085110	mondo.json	Immunodeficiency, severe combined	http://purl.obolibrary.org/obo/HP_0004430		
UBERON:0004387	biolink:AnatomicalEntity	epiphysis of phalanx of manus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004387		
UBERON:0004388	biolink:AnatomicalEntity	epiphysis of fibula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004388		
MONDO:0007519	biolink:Disease	Edinburgh malformation syndrome	Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.	MESH:C563051|GARD:0002074|UMLS:C0795933|OMIM:129850|Orphanet:1895	mondo.json	Edinburgh malformation syndrome|typus Edinburgensis	http://purl.obolibrary.org/obo/MONDO_0007519	UMLS:C0795933|Orphanet:1895|http://identifiers.org/mesh/C563051|https://omim.org/entry/129850	ordo_malformation_syndrome|gard_rare
MONDO:0007517	biolink:Disease	ectrodactyly-cleft palate syndrome		MESH:C565064|UMLS:CN229012|UMLS:C1851848|Orphanet:1889|OMIM:129830	mondo.json	ectrodactyly-cleft palate syndrome|Ecp syndrome	http://purl.obolibrary.org/obo/MONDO_0007517	UMLS:CN229012|UMLS:C1851848|http://identifiers.org/mesh/C565064|Orphanet:1889|https://omim.org/entry/129830	
MONDO:0007518	biolink:Disease	edema, familial idiopathic, prepubertal		MESH:C565063|UMLS:C1851847|OMIM:129840	mondo.json	edema, familial idiopathic, prepubertal	http://purl.obolibrary.org/obo/MONDO_0007518	UMLS:C1851847|http://identifiers.org/mesh/C565063|https://omim.org/entry/129840	
MONDO:0007515	biolink:Disease	ectopia pupillae		MESH:C536185|HP:0009918|GARD:0008490|SCTID:193523008|OMIM:129750	mondo.json	familial ectopic pupil|ectopia pupillae|congenital eye malformation in which the pupils are displaced from their normal central position|ectopia pupillae (disease)	http://purl.obolibrary.org/obo/MONDO_0007515	http://identifiers.org/mesh/C536185|http://identifiers.org/snomedct/193523008|https://omim.org/entry/129750	
MONDO:0007516	biolink:Disease	ectrodactyly and ectodermal dysplasia without cleft lip/palate		UMLS:C1851849|OMIM:129810|Orphanet:1888|MESH:C565065	mondo.json	EEC syndrome without cleft Lip/palate|ectrodactyly-ectodermal dysplasia without clefting syndrome|ectrodactyly and ectodermal dysplasia without cleft lip/palate	http://purl.obolibrary.org/obo/MONDO_0007516	UMLS:C1851849|http://identifiers.org/mesh/C565065|Orphanet:1888|https://omim.org/entry/129810	
MONDO:0007513	biolink:Disease	ectodermal dysplasia with adrenal cyst		Orphanet:3391|UMLS:C1851850|OMIM:129550|MESH:C538015	mondo.json	ectodermal dysplasia with adrenal cyst|Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome	http://purl.obolibrary.org/obo/MONDO_0007513	Orphanet:3391|UMLS:C1851850|http://identifiers.org/mesh/C538015|https://omim.org/entry/129550	
MONDO:0007514	biolink:Disease	ectopia lentis 1, isolated, autosomal dominant	Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene.	UMLS:C3541518|OMIM:129600|DOID:0111150	mondo.json	ECTOL1|ectopia lentis 1, isolated, autosomal dominant|isolated ectopia lentis caused by mutation in FBN1|FBN1 isolated ectopia lentis|ectopia lentis, familial|autosomal dominant isolated ectopia lentis 1	http://purl.obolibrary.org/obo/MONDO_0007514	DOID:0111150|https://omim.org/entry/129600|UMLS:C3541518	
HGNC:2558	biolink:NamedThing	CX3CR1			mondo.json		http://identifiers.org/hgnc/2558		
MONDO:0007511	biolink:Disease	ectodermal dysplasia, trichoodontoonychial type	Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.	Orphanet:1818|SCTID:734018003|MESH:C565068|OMIM:129510|GARD:0002055|UMLS:C1851858	mondo.json	ectodermal dysplasia trichoodontoonychial type|ectodermal dysplasia, trichoodontoonychial type	http://purl.obolibrary.org/obo/MONDO_0007511	UMLS:C1851858|http://identifiers.org/mesh/C565068|Orphanet:1818|http://identifiers.org/snomedct/734018003|https://omim.org/entry/129510	gard_rare|ordo_malformation_syndrome
MONDO:0007512	biolink:Disease	ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet		UMLS:C1851851|MESH:C565067|OMIM:129540	mondo.json	ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet	http://purl.obolibrary.org/obo/MONDO_0007512	UMLS:C1851851|http://identifiers.org/mesh/C565067|https://omim.org/entry/129540	
MONDO:0007510	biolink:Disease	Clouston syndrome	Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.	GARD:0004253|OMIM:129500|Orphanet:189|DOID:14693|GARD:0002056|SCTID:54209007	mondo.json	autosomal dominant hidrotic ectodermal dysplasia|ectodermal dysplasia, hidrotic, autosomal dominant|hidrotic ectodermal dysplasia syndrome|Clouston syndrome|ectodermal dysplasia, hidrotic, 2, formerly|Patel Bixler syndrome|ectodermal dysplasia, hidrotic|ectodermal dysplasia, hidrotic, 2|hidrotic ectodermal dysplasia|Clouston's syndrome|alopecia, dysplastic nails, palmar and plantar hyperkeratosis|Clouston hidrotic ectodermal dysplasia|palmoplantar hyperkeratosis and alopecia|Clouston's hidrotic ectodermal dysplasia|ectodermal dysplasia 2, Clouston type|hidrotic ectodermal dysplasia, autosomal dominant|ED2	http://purl.obolibrary.org/obo/MONDO_0007510	Orphanet:189|DOID:14693|https://omim.org/entry/129500|http://identifiers.org/snomedct/54209007	do_inheritance_inconsistent|gard_rare|ordo_disease
NCBITaxon:42113	biolink:OrganismalEntity	Clitellata		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_42113		
UBERON:0004374	biolink:AnatomicalEntity	vitelline vasculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004374		
UBERON:0004375	biolink:AnatomicalEntity	bone of free limb or fin			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004375		
HP:0004444	biolink:PhenotypicFeature	Spherocytosis	The presence of erythrocytes that are sphere-shaped.	UMLS:C0553720|SNOMEDCT_US:17235000	mondo.json		http://purl.obolibrary.org/obo/HP_0004444		
UBERON:0004370	biolink:AnatomicalEntity	anterior limiting lamina of cornea			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004370		
CHEBI:35942	biolink:ChemicalSubstance	neurotransmitter agent	A substance used for its pharmacological action on any aspect of neurotransmitter systems. Neurotransmitter agents include agonists, antagonists, degradation inhibitors, uptake inhibitors, depleters, precursors, and modulators of receptor function.		mondo.json	neurotransmitter agents	http://purl.obolibrary.org/obo/CHEBI_35942		
CHEBI:60911	biolink:ChemicalSubstance	racemate	A racemate is an equimolar mixture of a pair of enantiomers.		mondo.json	racemates|racemic mixture|melange racemique	http://purl.obolibrary.org/obo/CHEBI_60911		
HP:0004447	biolink:PhenotypicFeature	Poikilocytosis	The presence of abnormally shaped erythrocytes.	SNOMEDCT_US:165479004|UMLS:C0221281	mondo.json		http://purl.obolibrary.org/obo/HP_0004447		
HGNC:2568	biolink:NamedThing	MAMLD1			mondo.json		http://identifiers.org/hgnc/2568		
HGNC:2567	biolink:NamedThing	OFD1			mondo.json		http://identifiers.org/hgnc/2567		
UBERON:0004378	biolink:AnatomicalEntity	proximal metaphysis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004378		
UBERON:0004379	biolink:AnatomicalEntity	distal epiphysis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004379		
UBERON:0004376	biolink:AnatomicalEntity	fin bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004376		
HGNC:2561	biolink:NamedThing	CXCR4			mondo.json		http://identifiers.org/hgnc/2561		
UBERON:0004377	biolink:AnatomicalEntity	distal metaphysis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004377		
NCBITaxon:137207	biolink:OrganismalEntity	Oligoryzomys longicaudatus		GC_ID:1	mondo.json	Oligoryzomys longicaudus	http://purl.obolibrary.org/obo/NCBITaxon_137207		
UBERON:0004363	biolink:AnatomicalEntity	pharyngeal arch artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004363		
HGNC:2570	biolink:NamedThing	CYB5A			mondo.json		http://identifiers.org/hgnc/2570		
UBERON:0004362	biolink:AnatomicalEntity	pharyngeal arch 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004362		
CHR:9606-chr12q14	biolink:NamedThing	12q14 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr12q14		
CHEBI:60924	biolink:ChemicalSubstance	keratan sulfate	A sulfated glycosaminoglycan, a linear polymer that consists of the repeating disaccharide  [3)-beta-Gal-(1->4)-beta-GlcNAc-(1->] and containing sulfo groups located at random positions.		mondo.json	keratan sulfates|keratosulfate	http://purl.obolibrary.org/obo/CHEBI_60924		
HGNC:2579	biolink:NamedThing	CYC1			mondo.json		http://identifiers.org/hgnc/2579		
HGNC:2578	biolink:NamedThing	CYBB			mondo.json		http://identifiers.org/hgnc/2578		
HGNC:2577	biolink:NamedThing	CYBA			mondo.json		http://identifiers.org/hgnc/2577		
UBERON:0004367	biolink:AnatomicalEntity	Descemet's membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004367		
UBERON:0004365	biolink:AnatomicalEntity	vitelline blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004365		
CHEBI:47909	biolink:ChemicalSubstance	3-oxo-Delta(4) steroid	A 3-oxo steroid conjugated to a C=C double bond at the alpha,beta position.		mondo.json	3-Oxo-delta4-steroid|3-oxo Delta(4)-steroids|3-oxo Delta(4)-steroid|a 3-oxo-Delta(4)-steroid|3-oxo-Delta(4) steroids	http://purl.obolibrary.org/obo/CHEBI_47909		
FOODON:03460177	biolink:NamedThing	plant seed or nut food product		http://www.langual.org/langual_thesaurus.asp?termid=H0177	mondo.json		http://purl.obolibrary.org/obo/FOODON_03460177		
NCBITaxon:29120	biolink:OrganismalEntity	Oligoryzomys		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_29120		
NCBITaxon:29122	biolink:OrganismalEntity	Oryzomys		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_29122		
UBERON:0004356	biolink:AnatomicalEntity	apical ectodermal ridge			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004356		
UBERON:0004357	biolink:AnatomicalEntity	paired limb/fin bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004357		
HGNC:2584	biolink:NamedThing	CYLD			mondo.json		http://identifiers.org/hgnc/2584		
MONDO:0007548	biolink:Disease	transient bullous dermolysis of the newborn	Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.	UMLS:C1851573|Orphanet:79411|MESH:C536979|OMIM:131705|GARD:0010010|DOID:0111345	mondo.json	epidermolysis bullosa dystrophica, neonatal form|DEB-BDN|epidermolysis bullosa dystrophica, dominant neonatal form|transient bullous dermolysis of the newborn|MONDON|TBDN|DEB, bullous dermolysis of the newborn|dystrophic epidermolysis bullosa, neonatal|transient bullous of the newborn	http://purl.obolibrary.org/obo/MONDO_0007548	DOID:0111345|http://identifiers.org/mesh/C536979|Orphanet:79411|https://omim.org/entry/131705|UMLS:C1851573	gard_rare|ordo_disease
MONDO:0007549	biolink:Disease	generalized dominant dystrophic epidermolysis bullosa	Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.	DOID:0080224|GARD:0002139|SCTID:75875004|ICD9:757.39|OMIM:131750|Orphanet:231568	mondo.json	epidermolysis bullosa dystrophica, Pasini type (formerly)|autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types|epidermolysis bullosa dystrophica, Pasini type|epidermolysis bullosa dystrophica, autosomal dominant|dystrophic epidermolysis bullosa, autosomal dominant|dominant dystrophic epidermolysis bullosa, generalized|epidermolysis bullosa dystrophica, Cockayne-Touraine type|dominant dystrophic epidermolysis bullosa|DDEB, generalized|epidermolysis bullosa dystrophica with subcorneal Cleavage|DDEB, Pasini and Cockayne-Touraine types|autosomal dominant dystrophic epidermolysis bullosa|epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly)|epidermolysis bullosa dystrophica, AD|DDEB|Albopapuloid dominant dystrophic epidermolysis bullosa|DDEB-gen	http://purl.obolibrary.org/obo/MONDO_0007549	Orphanet:231568|DOID:0080224|http://identifiers.org/snomedct/75875004|https://omim.org/entry/131750	ordo_disease
MONDO:0007546	biolink:Disease	myeloproliferative disorder, chronic, with eosinophilia		OMIM:131440|MESH:C565054|DOID:0111344|UMLS:C1851585	mondo.json	myeloproliferative disorder, chronic, with eosinophilia|myeloproliferative disorder with eosinophilia|MPE|eosinophils, malignant proliferation of	http://purl.obolibrary.org/obo/MONDO_0007546	http://identifiers.org/mesh/C565054|DOID:0111344|https://omim.org/entry/131440|UMLS:C1851585	
MONDO:0007547	biolink:Disease	epidermoid cysts	The most common type of cutaneous cyst. It results from the proliferation of epidermal cells in a circumscribed space within the dermis. It is usually asymptomatic and presents as a firm, round nodule.	NCIT:C3134|EFO:1000243|SCTID:419893006|OMIM:131600|MESH:D004814	mondo.json	inclusion cyst|keratinous cyst|Follicular infundibular cyst|keratin cyst|epidermoid cyst|epidermal inclusion cyst|keratinizing cyst|epidermoid cysts|horn cyst|Epidermal cyst|squamous cyst|epithelial cyst|infundibular cyst	http://purl.obolibrary.org/obo/MONDO_0007547	http://identifiers.org/snomedct/419893006|https://omim.org/entry/131600|NCIT:C3134|http://identifiers.org/mesh/D004814	
MONDO:0020522	biolink:Disease	Ehlers-Danlos syndrome type 7B		UMLS:CN706304|GTR:AN1112967|GTR:AN1112966|MESH:C565061|GTR:AN1112503|GTR:AN1112965|UMLS:C1851801|Orphanet:99876	mondo.json	Ehlers-Danlos syndrome, type VIIB, autosomal dominant|EDSARTH2|EDS VIIB|Ehlers-Danlos syndrome, arthrochalasia type, 2	http://purl.obolibrary.org/obo/MONDO_0020522	UMLS:CN706304|UMLS:C1851801|Orphanet:99876|http://identifiers.org/mesh/C565061	ordo_etiological_subtype
MONDO:0007544	biolink:Disease	eosinophilia, familial	Familial occurrence, with more than one generation being affected, of persistent eosinophilia, an increase in the number of eosinophils in the blood, in the absence of known causal factors.	GARD:0010521|SCTID:79336007|OMIM:131400|MESH:C562722	mondo.json	eosinophilia, familial|familial eosinophilia|Eos	http://purl.obolibrary.org/obo/MONDO_0007544	http://identifiers.org/snomedct/79336007|https://omim.org/entry/131400|http://identifiers.org/mesh/C562722	gard_rare
MONDO:0020521	biolink:Disease	Ehlers-Danlos syndrome type 7A		Orphanet:99875|UMLS:CN207418	mondo.json	EDS VIIA	http://purl.obolibrary.org/obo/MONDO_0020521	Orphanet:99875|UMLS:CN207418	ordo_etiological_subtype
MONDO:0007545	biolink:Disease	Eosinophilopenia		OMIM:131430|UMLS:C1851586	mondo.json	Eosinophilopenia|eosinophil aplasia	http://purl.obolibrary.org/obo/MONDO_0007545	https://omim.org/entry/131430|UMLS:C1851586	
FOODON:03460141	biolink:NamedThing	food modification process		http://www.langual.org/langual_thesaurus.asp?termid=H0141	mondo.json		http://purl.obolibrary.org/obo/FOODON_03460141		
MONDO:0020520	biolink:Disease	adult pulmonary Langerhans cell histiocytosis	Adult pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare histiocytic lung disease characterized by the accumulation of Langerhans and other inflammatory cells in the small airways, resulting in the formation of nodular inflammatory lesions.	NCIT:C142833|Orphanet:99874|UMLS:C1455705|ICD10CM:J84.82|SCTID:328611000119105|UMLS:C3161104	mondo.json	PLCH|pulmonary histiocytosis X|pulmonary eosinophilic granuloma|pulmonary Langerhans cell histiocytosis	http://purl.obolibrary.org/obo/MONDO_0020520	UMLS:C3161104|http://identifiers.org/snomedct/328611000119105|NCIT:C142833|UMLS:C1455705|Orphanet:99874|http://purl.bioontology.org/ontology/ICD10CM/J84.82	ordo_disease
MONDO:0007542	biolink:Disease	Camurati-Engelmann disease	Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.	DOID:4997|NCIT:C84610|UMLS:C0011989|OMIM:131300|ICD9:756.59|SCTID:318761000119105|Orphanet:1328|GARD:0001072	mondo.json	CED|Camurati-Engelmann disease|diaphyseal dysplasia|diaphyseal dysplasia 1, progressive|progressive diaphyseal dysplasia|Camurati-Engelmann syndrome|CAEND|DPD1|Engelman's disease|Engelmann disease|Camurati-Englemann disease	http://purl.obolibrary.org/obo/MONDO_0007542	Orphanet:1328|DOID:4997|http://identifiers.org/snomedct/318761000119105|https://omim.org/entry/131300|UMLS:C0011989|NCIT:C84610	ordo_malformation_syndrome
MONDO:0007543	biolink:Disease	enolase, sperm specific		OMIM:131375	mondo.json	enolase, sperm specific|ENO4	http://purl.obolibrary.org/obo/MONDO_0007543	https://omim.org/entry/131375	
MONDO:0007540	biolink:Disease	multiple endocrine neoplasia type 1	Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients.	MedDRA:10028190|DOID:10017|MESH:D018761|ICD9:258.01|NCIT:C3225|GARD:0003829|SCTID:30664006|ICD9:237.4|UMLS:C0025267|OMIM:131100|Orphanet:652	mondo.json	Wermer's syndrome|endocrine adenomatosis multiple|MEA type I|MEN1|men type I|multiple endocrine neoplasia type I|men 1|multiple endocrine neoplasia 1|MEA 1|MEN1 syndrome|multiple endocrine neoplasia, type 1|MEN1 multiple endocrine neoplasia|men type 1|multiple endocrine adenomatosis, type I|multiple endocrine adenomatosis type I|Wermer syndrome|multiple endocrine neoplasia, type I|multiple endocrine adenomatosis|MEA type 1|multiple endocrine neoplasia caused by mutation in MEN1|multiple endocrine neoplasia type 1 syndrome|MEN1 somatic mutations|endocrine adenomatosis, multiple|multiple endocrine adenomatosis type 1|multiple endocrine neoplasia type 1	http://purl.obolibrary.org/obo/MONDO_0007540	UMLS:C0025267|Orphanet:652|https://omim.org/entry/131100|http://identifiers.org/mesh/D018761|DOID:10017|http://identifiers.org/snomedct/30664006|NCIT:C3225	ordo_disease|gard_rare
MONDO:0007541	biolink:Disease	endometriosis, susceptibility to, 1		OMIM:131200	mondo.json	ENDO1|endometriosis, susceptibility to, type 1|endometriosis, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0007541	https://omim.org/entry/131200	predisposition
MONDO:0020519	biolink:Disease	hand-Schuller-Christian disease	A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions.	UMLS:CN207416|ICD9:277.89|ICDO:9753/1|Orphanet:99873|SCTID:39795003|NCIT:C6920	mondo.json	multifocal Unisystem Langerhans cell histiocytosis|classic multifocal Langerhans cell histiocytosis|multifocal eosinophilic granuloma|hand-SChüller-Christian disease|hand-Schuller-Christian disease|chronic multifocal Langerhans cell histiocytosis	http://purl.obolibrary.org/obo/MONDO_0020519	Orphanet:99873|UMLS:CN207416|http://identifiers.org/snomedct/39795003|NCIT:C6920	ordo_disease
HGNC:2593	biolink:NamedThing	CYP17A1			mondo.json		http://identifiers.org/hgnc/2593		
MONDO:0020518	biolink:Disease	Hashimoto-Pritzker syndrome	Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules).	MESH:C535843|ICD9:277.89|Orphanet:99872|UMLS:C1275336|GARD:0002604|SCTID:404160007	mondo.json	Hashimoto-Pritzker disease|Hashimoto-Pritzker histiocytosis|congenital Langerhans cell histiocytosis	http://purl.obolibrary.org/obo/MONDO_0020518	Orphanet:99872|http://identifiers.org/mesh/C535843|UMLS:C1275336|http://identifiers.org/snomedct/404160007	gard_rare|ordo_disease
HGNC:2592	biolink:NamedThing	CYP11B2			mondo.json		http://identifiers.org/hgnc/2592		
HGNC:2591	biolink:NamedThing	CYP11B1			mondo.json		http://identifiers.org/hgnc/2591		
MONDO:0020517	biolink:Disease	eosinophilic granuloma	A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes.	UMLS:C0014461|ICD9:277.89|NCIT:C3016|SCTID:129000002|Orphanet:99871|MESH:D004803|ICDO:9752/1|MedDRA:10014956	mondo.json	eosinophilic granuloma|unifocal Langerhans cell histiocytosis|eosinophilic xanthomatous granuloma|chronic and localized Langerhans cell histiocytosis|Monostotic Langerhans cell histiocytosis|chronic unifocal Langerhans cell histiocytosis	http://purl.obolibrary.org/obo/MONDO_0020517	Orphanet:99871|http://identifiers.org/snomedct/129000002|NCIT:C3016|http://identifiers.org/mesh/D004803|UMLS:C0014461	ordo_disease
HGNC:2590	biolink:NamedThing	CYP11A1			mondo.json		http://identifiers.org/hgnc/2590		
MONDO:0020516	biolink:Disease	thymic neuroendocrine carcinoma	Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm displaying evidence of neuroendocrine differentiation.	UMLS:CN207412|UMLS:C2210965|SCTID:716653001|Orphanet:99869	mondo.json	neuroendocrine carcinoma of thymus|thymic neuroendocrine carcinoma|thymus neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0020516	Orphanet:99869|UMLS:CN207412|UMLS:C2210965|http://identifiers.org/snomedct/716653001	ordo_disease
MONDO:0019537	biolink:Disease	hemoglobin D disease	Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia).	NCIT:C35344|UMLS:C0272080|SCTID:66729008|ICD9:282.7|DOID:5378|MedDRA:10055019|Orphanet:90039	mondo.json	hemoglobin D disease|Hb-D disease	http://purl.obolibrary.org/obo/MONDO_0019537	Orphanet:90039|NCIT:C35344|DOID:5378|http://identifiers.org/snomedct/66729008|UMLS:C0272080	ordo_disease
MONDO:0020515	biolink:Disease	obsolete thymic carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020515		
MONDO:0019536	biolink:Disease	typical hemolytic-uremic syndrome	Typical hemolytic-uremic syndrome (typical HUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli.	UMLS:CN206363|GARD:0006241|Orphanet:90038	mondo.json	hemolytic-uremic syndrome with diarrhea|Sxt-HUS|typical HUS|D-plus hemolytic uremic syndrome (D+HUS)|Shiga-like toxin-associated HUS|D+HUS	http://purl.obolibrary.org/obo/MONDO_0019536	Orphanet:90038|UMLS:CN206363	ordo_disease|gard_rare
MONDO:0020514	biolink:Disease	obsolete thymoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020514		
MONDO:0020513	biolink:Disease	spermatocytic seminoma	A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males.	Orphanet:99865|NCIT:C39921|UMLS:C0334517|DOID:7891|ICDO:9063/3|DOID:5834	mondo.json	testicular spermatocytic seminoma|spermatocytic seminoma|spermatocytoma	http://purl.obolibrary.org/obo/MONDO_0020513	DOID:5834|NCIT:C39921|UMLS:C0334517|DOID:7891|Orphanet:99865	ordo_disease
MONDO:0019539	biolink:Disease	obsolete retinopathy of prematurity			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019539		
MONDO:0020512	biolink:Disease	precursor T-cell acute lymphoblastic leukemia		Orphanet:99861	mondo.json	T-ALL|precursor T-cell acute lymphoblastic leukemia/lymphoma|precursor T-cell acute lymphocytic leukemia|precursor T-cell acute lymphocytic leukemia/lymphoma	http://purl.obolibrary.org/obo/MONDO_0020512	Orphanet:99861	ordo_disease
MONDO:0019538	biolink:Disease	Gaisbock syndrome	Polycythemia that is caused by stress.	MedDRA:10053885|SCTID:36874002|Orphanet:90041|UMLS:C0541719|GARD:0008402|UMLS:CN206365|NCIT:C27174|DOID:2838|MedDRA:10042217|UMLS:C2242785	mondo.json	Pseudopolycythemia|Gaisbock's syndrome|polycythemia, emotional|GaisböCK syndrome|stress erythrocytosis|Pseudopolycythaemia|stress polycythemia|Gaisboeck's syndrome	http://purl.obolibrary.org/obo/MONDO_0019538	Orphanet:90041|UMLS:C2242785|http://identifiers.org/snomedct/36874002|UMLS:C0541719|NCIT:C27174|UMLS:CN206365|DOID:2838	ordo_disease
MONDO:0019533	biolink:Disease	paroxysmal cold hemoglobinuria	Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures.	Orphanet:90035|GARD:0007335|SCTID:127057004	mondo.json	hemoglobinuria paroxysmal cold|Donath-Landsteiner syndrome|PCH|Donath-Landsteiner hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0019533	http://identifiers.org/snomedct/127057004|Orphanet:90035	ordo_disease
MONDO:0019532	biolink:Disease	autoimmune hemolytic anemia, warm type	Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40B0C).	MedDRA:10047822|Orphanet:90033|UMLS:C0272118|NCIT:C162611|GARD:0007876|SCTID:3978000	mondo.json	warm-reacting-antibody hemolytic anemia|wAHA|warm antibody AIHA|warm AIHA|warm antibody hemolytic anemia|wAIHA|warm antibody autoimmune hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0019532	http://identifiers.org/snomedct/3978000|NCIT:C162611|UMLS:C0272118|Orphanet:90033	ordo_disease
MONDO:0019535	biolink:Disease	drug-induced autoimmune hemolytic anemia	Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms.	Orphanet:90037|ICD10CM:D59.0|SCTID:309742004	mondo.json	drug-induced AIHA	http://purl.obolibrary.org/obo/MONDO_0019535	Orphanet:90037|http://purl.bioontology.org/ontology/ICD10CM/D59.0|http://identifiers.org/snomedct/309742004	ordo_disease
MONDO:0019534	biolink:Disease	mixed-type autoimmune hemolytic anemia	Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures.	Orphanet:90036|UMLS:C4305257|SCTID:718716008	mondo.json	mixed AIHA	http://purl.obolibrary.org/obo/MONDO_0019534	Orphanet:90036|UMLS:C4305257|http://identifiers.org/snomedct/718716008	ordo_disease
HGNC:2597	biolink:NamedThing	CYP1B1			mondo.json		http://identifiers.org/hgnc/2597		
MONDO:0019531	biolink:Disease	hemolytic anemia due to glutathione reductase deficiency	Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes.	Orphanet:90030|OMIM:618660	mondo.json	HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY	http://purl.obolibrary.org/obo/MONDO_0019531	https://omim.org/entry/618660|Orphanet:90030	ordo_disease
MONDO:0019530	biolink:Disease	non-syndromic syndactyly	A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly.	MedDRA:10042778|Orphanet:90025|NCIT:C87125	mondo.json	nonsyndromic syndactyly|symphalangy|chromosome 2q35 duplication syndrome|webbing of digits|symphalangism|isolated syndactyly|syndactyly	http://purl.obolibrary.org/obo/MONDO_0019530	NCIT:C87125|Orphanet:90025	disease_grouping|ordo_group_of_disorders
HGNC:2594	biolink:NamedThing	CYP19A1			mondo.json		http://identifiers.org/hgnc/2594		
NBO:0000308	biolink:NamedThing	sensation behavior	"Cognitive perception of a sensation by any of the five senses -- vision, touch, smell, taste, and hearing." [NBO:GVG]		mondo.json	behavior involving perception|perception behavior	http://purl.obolibrary.org/obo/NBO_0000308		
UBERON:0016398	biolink:AnatomicalEntity	lymph node of lower limb			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016398		
NBO:0000306	biolink:NamedThing	memory storage behavior	"Behavior related with the ability of an organism's ability to store information and experiences." [NBO:GVG]		mondo.json	memory storage behaviour	http://purl.obolibrary.org/obo/NBO_0000306		
NCBITaxon:29185	biolink:OrganismalEntity	Rotaliida		GC_ID:1	mondo.json	Rotaliina	http://purl.obolibrary.org/obo/NCBITaxon_29185		
MONDO:0007559	biolink:Disease	photoparoxysmal response 1		OMIM:132100|UMLS:C1868677	mondo.json	photosensitivity|photoparoxysmal response 1|epilepsy, photogenic|PPR1|Photoconvulsive reaction|Ppr	http://purl.obolibrary.org/obo/MONDO_0007559	UMLS:C1868677|https://omim.org/entry/132100	
UBERON:0016392	biolink:AnatomicalEntity	mastoid lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016392		
MONDO:0007557	biolink:Disease	epidermolysis bullosa with congenital localized absence of skin and deformity of nails		OMIM:132000|ICD9:757.39|SCTID:2689001|DOID:0111347|MESH:C562638	mondo.json	EBD, Bart type|epidermolysis bullosa with congenital localized absence of skin and deformity of nails|epidermolysis bullosa dystrophica, Bart type	http://purl.obolibrary.org/obo/MONDO_0007557	http://identifiers.org/snomedct/2689001|DOID:0111347|https://omim.org/entry/132000|http://identifiers.org/mesh/C562638	
MONDO:0007558	biolink:Disease	benign occipital epilepsy	Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes.	UMLS:C1851549|GARD:0002170|Orphanet:25968|OMIM:132090	mondo.json	epilepsy, benign occipital|BOE	http://purl.obolibrary.org/obo/MONDO_0007558	https://omim.org/entry/132090|Orphanet:25968|UMLS:C1851549	ordo_disease|gard_rare
MONDO:0007555	biolink:Disease	pidermolysis bullosa simplex 5A, Ogna type	A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering.	OMIM:131950|GARD:0002148|MESH:C535962|ICD9:757.39|SCTID:398071000|Orphanet:79401|DOID:0060736	mondo.json	epidermolysis bullosa simplex 5A, Ogna type|epidermolysis bullosa simplex, Ogna type|EBS-O|EBS-Og|EBSOG	http://purl.obolibrary.org/obo/MONDO_0007555	Orphanet:79401|http://identifiers.org/mesh/C535962|http://identifiers.org/snomedct/398071000|DOID:0060736|https://omim.org/entry/131950	gard_rare|ordo_disease
MONDO:0020511	biolink:Disease	precursor B-cell acute lymphoblastic leukemia	The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001)	Orphanet:99860|UMLS:C0006413|ICDO:9836/3|NCIT:C8644	mondo.json	B-ALL|B-cell type acute leukemia|B acute lymphoblastic leukemia|B-cell acute lymphocytic leukemia|B-precursor ALL|B cell acute lymphocytic leukemia|precursor B-cell acute lymphocytic leukemia|precursor B-cell acute lymphocytic leukemia/lymphoma|B-cell lymphoblastic leukemia|acute B-cell lymphocytic leukemia|B cell precursor type acute leukemia|precursor B-lymphoblastic leukemia (B-precursor ALL)|B-cell acute lymphoblastic leukemia|acute B cell lymphocytic leukemia|B-cell precursor type acute leukemia|precursor B-cell acute lymphoblastic leukemia/lymphoma|precursor B-lymphoblastic leukemia	http://purl.obolibrary.org/obo/MONDO_0020511	NCIT:C8644|Orphanet:99860	ordo_disease
NCBITaxon:29189	biolink:OrganismalEntity	Ammonia		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_29189		
MONDO:0007556	biolink:Disease	epidermolysis bullosa simplex 2F, with mottled pigmentation	A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation.	GARD:0009737|ICD9:757.39|DOID:0111346|Orphanet:79397|SCTID:254180002|OMIM:131960|MESH:C535959	mondo.json	speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering|epidermolysis bullosa simplex 2F, with mottled pigmentation|EBS-MP|speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering|EBS with mottled pigmentation|EBSMP|epidermolysis bullosa simplex with mottled pigmentation	http://purl.obolibrary.org/obo/MONDO_0007556	DOID:0111346|Orphanet:79397|http://identifiers.org/snomedct/254180002|http://identifiers.org/mesh/C535959|https://omim.org/entry/131960	gard_rare|ordo_disease
MONDO:0020510	biolink:Disease	idiopathic syringomyelia	Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiably cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding.	SCTID:725001004|UMLS:C4511700|Orphanet:99858	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020510	UMLS:C4511700|http://identifiers.org/snomedct/725001004|Orphanet:99858	ordo_clinical_subtype
MONDO:0007553	biolink:Disease	epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase		UMLS:C1851570|MESH:C565049|OMIM:131880	mondo.json	epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase	http://purl.obolibrary.org/obo/MONDO_0007553	http://identifiers.org/mesh/C565049|https://omim.org/entry/131880|UMLS:C1851570	
MONDO:0007554	biolink:Disease	epidermolysis bullosa simplex 1B, generalized intermediate	Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.	OMIM:131900|ICD9:757.39|GARD:0002147|Orphanet:79399|SCTID:90496008	mondo.json	epidermolysis bullosa simplex, Kobner type|epidermolysis bullosa simplex, generalized intermediate|epidermolysis bullosa simplex, generalized non-Dowling-Meara|EBS, generalized intermediate|epidermolysis bullosa simplex, Koebner type|EBS-K|epidermolysis bullosa simplex, Köbner type|EBS, generalized|generalized epidermolysis bullosa simplex, non-Dowling-Meara type|generalized EBS|epidermolysis bullosa simplex 1B, generalized intermediate|epidermolysis bullosa simplex, generalized|generalized EBS, non-Dowling-Meara type	http://purl.obolibrary.org/obo/MONDO_0007554	http://identifiers.org/snomedct/90496008|Orphanet:79399|https://omim.org/entry/131900	ordo_disease
MONDO:0007551	biolink:Disease	epidermolysis bullosa simplex 1C, localized	A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.	GARD:0002146|OMIM:131800|ICD9:757.39|Orphanet:79400|SCTID:294705005|DOID:0080510	mondo.json	Weber-Cockayne type epidermolysis bullosa simplex|EBS, acral form|epidermolysis bullosa of hands and feet|Weber-Cockayne syndrome|EBS-loc|epidermolysis bullosa simplex 1C, localized|epidermolysis bullosa simplex, Weber-Cockayne type|localized epidermolysis bullosa simplex|epidermolysis bullosa simplex, localized|epidermolysis bullosa simplex of palms and soles	http://purl.obolibrary.org/obo/MONDO_0007551	DOID:0080510|Orphanet:79400|https://omim.org/entry/131800|http://identifiers.org/snomedct/294705005	ordo_disease|gard_rare
GO:0140416	biolink:NamedThing	transcription regulator inhibitor activity	A molecular function regulator that inhibits the activity of a transcription regulator via direct binding and/or post-translational modification.		mondo.json	DNA-binding transcription factor inhibitor activity	http://purl.obolibrary.org/obo/GO_0140416		
MONDO:0007552	biolink:Disease	pretibial dystrophic epidermolysis bullosa	Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region.	ICD9:757.39|Orphanet:79410|GARD:0002155|MESH:C535494|OMIM:131850|SCTID:67653003	mondo.json	pretibial DEB|dystrophic epidermolysis bullosa, pretibial|pretibial epidermolysis bullosa|epidermolysis bullosa dystrophica, pretibial|Deb, pretibial|DEB-Pt|epidermolysis bullosa, pretibial	http://purl.obolibrary.org/obo/MONDO_0007552	http://identifiers.org/mesh/C535494|Orphanet:79410|https://omim.org/entry/131850|http://identifiers.org/snomedct/67653003	ordo_disease
UBERON:0016399	biolink:AnatomicalEntity	lymph node of upper limb			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016399		
MONDO:0007550	biolink:Disease	epidermolysis bullosa simplex 1A, generalized severe	A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.	ICD9:771.2|SCTID:254179000|OMIM:131760|GARD:0002141|Orphanet:79396|DOID:0060735	mondo.json	EBS-DM|generalized severe epidermolysis bullosa simplex|epidermolysis bullosa simplex, generalized severe|EBS, generalized severe|epidermolysis bullosa simplex Dowling-Meara type|epidermolysis bullosa simplex, herpetiformis|epidermolysis bullosa simplex, Dowling-Meara type|epidermolysis bullosa simplex 1A, generalized severe|Dowling-Meara type epidermolysis bullosa simplex|epidermolysis bullosa herpetiformis, Dowling-Meara type|EBS-gen sev|epidermolysis bullosa herpetiformis Dowling-Meara type|EBSDM	http://purl.obolibrary.org/obo/MONDO_0007550	Orphanet:79396|DOID:0060735|https://omim.org/entry/131760|http://identifiers.org/snomedct/254179000	ordo_disease|gard_rare
MONDO:0020508	biolink:Disease	primary syringomyelia		SCTID:371076006|Orphanet:99856|UMLS:C1299627	mondo.json	congenital syringomyelia	http://purl.obolibrary.org/obo/MONDO_0020508	Orphanet:99856|UMLS:C1299627|http://identifiers.org/snomedct/371076006	ordo_morphological_anomaly
MONDO:0019529	biolink:Disease	radiation myelitis	A disease characterized by white matter damage to the spinal cord developed after a certain period of application of ionizing radiation.	Orphanet:90021|ICD9:336.8|SCTID:26037005	mondo.json	radiation myelopathy|delayed radiation myelopathy	http://purl.obolibrary.org/obo/MONDO_0019529	Orphanet:90021|http://identifiers.org/snomedct/26037005	ordo_disease
MONDO:0020507	biolink:Disease	Cree leukoencephalopathy		Orphanet:99854	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020507	Orphanet:99854	ordo_clinical_subtype
MONDO:0020506	biolink:Disease	ovarioleukodystrophy		UMLS:C1847967|Orphanet:99853	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020506	Orphanet:99853|UMLS:C1847967	ordo_clinical_subtype
MONDO:0020505	biolink:Disease	ravine syndrome	Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.	SCTID:715794009|UMLS:CN207401|Orphanet:99852|UMLS:C4275006	mondo.json	progressive encephalopathy with severe infantile anorexia|Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome	http://purl.obolibrary.org/obo/MONDO_0020505	Orphanet:99852|UMLS:CN207401|http://identifiers.org/snomedct/715794009|UMLS:C4275006	ordo_disease
MONDO:0019526	biolink:Disease	erythema elevatum diutinum	Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses.	SCTID:58872001|ICD10CM:L95.1|DOID:0060567|ICD9:695.89|MESH:C535509|UMLS:C0263398|GARD:0008653|Orphanet:90000|MedDRA:10056968	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019526	Orphanet:90000|http://purl.bioontology.org/ontology/ICD10CM/L95.1|http://identifiers.org/snomedct/58872001|http://identifiers.org/mesh/C535509|UMLS:C0263398|DOID:0060567	ordo_disease|gard_rare
MONDO:0020504	biolink:Disease	genetic recurrent myoglobinuria	Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.	Orphanet:99845|ICD10CM:R82.1|SCTID:716721003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020504	Orphanet:99845|http://identifiers.org/snomedct/716721003	ordo_disease
MONDO:0019525	biolink:Disease	tetrasomy X	Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX).	UMLS:C0265496|SCTID:10567003|MESH:C536502|Orphanet:9|ICD9:758.81|GARD:0007754	mondo.json	tetra X|48,XXXX syndrome|quadruple X|48 XXXX syndrome|48 XXXX|tetrasomy type X	http://purl.obolibrary.org/obo/MONDO_0019525	UMLS:C0265496|Orphanet:9|http://identifiers.org/mesh/C536502|http://identifiers.org/snomedct/10567003	gard_rare|ordo_malformation_syndrome
MONDO:0020503	biolink:Disease	obsolete resistance to thyrotropin-releasing hormone syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020503		
MONDO:0020502	biolink:Disease	yellow fever	Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure.	ICD9:060.9|GARD:0007914|UMLS:C0043395|MESH:D015004|MedDRA:10048240|Orphanet:99829|ICD9:060|DOID:9682|UMLS:C0043398|UMLS:C0043397|NCIT:C35547	mondo.json	Yellow Jack|Yellow fever, sylvan|Yellow fever virus infectious disease|Yellow fever virus caused disease or disorder|Yellow fever virus disease or disorder|Yellow fever Virus infection|urban yellow fever|bronze John|sylvatic yellow fever|YF|jungle yellow fever	http://purl.obolibrary.org/obo/MONDO_0020502	Orphanet:99829|DOID:9682|http://identifiers.org/mesh/D015004|UMLS:C0043398|UMLS:C0043397|UMLS:C0043395|NCIT:C35547	gard_rare|ordo_disease
MONDO:0019528	biolink:Disease	inflammatory pseudotumor of the liver	Inflammatory pseudotumor (IPT) of the liver is a rare benign tumor-like lesion.	Orphanet:90003	mondo.json	IgG4-related hepatopathy	http://purl.obolibrary.org/obo/MONDO_0019528	Orphanet:90003	ordo_disease
MONDO:0019527	biolink:Disease	undifferentiated connective tissue syndrome	An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases.	MedDRA:10071575|UMLS:C0409999|NCIT:C116776|Orphanet:90002|SCTID:239918008	mondo.json	undifferentiated connective tissue disease|UCTD	http://purl.obolibrary.org/obo/MONDO_0019527	UMLS:C0409999|Orphanet:90002|NCIT:C116776|http://identifiers.org/snomedct/239918008	ordo_disease
MONDO:0020501	biolink:Disease	Crimean-Congo hemorrhagic fever	Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure.	UMLS:C1304456|ICD10CM:A98.0|MESH:D006479|ICD9:065.0|NCIT:C34682|DOID:12287|UMLS:C0019099|Orphanet:99827|SCTID:402919000	mondo.json	Congo hemorrhagic fever|CHF Congo virus|Congo-Crimean hemorrhagic fever|Crimean-Congo haemorrhagic fever|Congo fever|Crimean hemorrhagic fever|Crimean hemorrhagic fever [CHF Congo virus]|CCHF	http://purl.obolibrary.org/obo/MONDO_0020501	Orphanet:99827|NCIT:C34682|UMLS:C0019099|DOID:12287|http://identifiers.org/mesh/D006479|http://purl.bioontology.org/ontology/ICD10CM/A98.0|UMLS:C1304456|http://identifiers.org/snomedct/402919000	ordo_disease
MONDO:0019522	biolink:Disease	recessive dystrophic epidermolysis bullosa-generalized other	Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.	UMLS:CN206337|GARD:0012794|Orphanet:89842	mondo.json	RDEB, generalized intermediate|autosomal recessive dystrophic epidermolysis bullosa generalisata mitis|RDEB-O|RDEB generalisata mitis|RDEB, non-Hallopeau-Siemens type|RDEB-generalized other|autosomal recessive dystrophic epidermolysis bullosa, generalized other|recessive dystrophic epidermolysis bullosa, generalized intermediate|recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type|generalized mitis RDEB	http://purl.obolibrary.org/obo/MONDO_0019522	UMLS:CN206337|Orphanet:89842	gard_rare|ordo_disease
CHEBI:23924	biolink:ChemicalSubstance	enzyme inhibitor	A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction.		mondo.json	inhibiteurs enzymatiques|inhibiteur enzymatique|enzyme inhibitors|inhibidor enzimatico|enzyme inhibitor|inhibidores enzimaticos	http://purl.obolibrary.org/obo/CHEBI_23924		
MONDO:0019521	biolink:Disease	centripetalis recessive dystrophic epidermolysis bullosa	Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk.	UMLS:C4511056|SCTID:725419003|Orphanet:89841	mondo.json	RDEB, centripetalis|RDEB-Ce|centripetal dystrophic epidermolysis bullosa|centripetal recessive dystrophic epidermolysis bullosa	http://purl.obolibrary.org/obo/MONDO_0019521	UMLS:C4511056|http://identifiers.org/snomedct/725419003|Orphanet:89841	ordo_disease
MONDO:0019524	biolink:Disease	infantile Bartter syndrome with sensorineural deafness	Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II.	Orphanet:89938|SCTID:700112007|UMLS:C3838860|GARD:0010508|UMLS:CN206343	mondo.json	Bartter syndrome type 4|Bartter syndrome type IV|Bartter syndrome with sensorineural deafness	http://purl.obolibrary.org/obo/MONDO_0019524	Orphanet:89938|http://identifiers.org/snomedct/700112007|UMLS:CN206343|UMLS:C3838860	ordo_clinical_subtype
MONDO:0019523	biolink:Disease	obsolete Walker-Warburg syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019523		
MONDO:0019520	biolink:Disease	syndromic lymphedema	A lymphedema that is part of a larger syndrome.	UMLS:CN227645|Orphanet:89832	mondo.json	syndromic lymphedema|syndrome associated with lymphedema	http://purl.obolibrary.org/obo/MONDO_0019520	UMLS:CN227645|Orphanet:89832	ordo_group_of_disorders|disease_grouping
MONDO:0020509	biolink:Disease	secondary syringomyelia	Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumours. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings.	Orphanet:99857	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020509	Orphanet:99857	ordo_disease
NCBITaxon:29171	biolink:OrganismalEntity	Dictyocaulus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_29171		
MONDO:0007528	biolink:Disease	Ehlers-Danlos syndrome, autosomal dominant, type unspecified		UMLS:C0220679|MESH:C562424|OMIM:130090	mondo.json	EDS, unspecified type|Ehlers-Danlos syndrome, Friedman-Harrod type|Ehlers-Danlos syndrome, autosomal dominant, type unspecified	http://purl.obolibrary.org/obo/MONDO_0007528	http://identifiers.org/mesh/C562424|UMLS:C0220679|https://omim.org/entry/130090	
MONDO:0007529	biolink:Disease	elastosis perforans serpiginosa		SCTID:49428008|OMIM:130100|MedDRA:10014338|ICD10CM:L87.2|GARD:0010103|Orphanet:79148|MESH:C536202|UMLS:C0221271	mondo.json	elastoma Intrapapillare perforans verruciformis|eps|Miescher elastoma|elastosis perforans serpiginosa	http://purl.obolibrary.org/obo/MONDO_0007529	https://omim.org/entry/130100|http://identifiers.org/mesh/C536202|http://identifiers.org/snomedct/49428008|http://purl.bioontology.org/ontology/ICD10CM/L87.2|Orphanet:79148|UMLS:C0221271	ordo_disease|gard_rare
MONDO:0007526	biolink:Disease	Ehlers-Danlos syndrome, spondylodysplastic type	A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.	DOID:0050802|GARD:0009991|MESH:C536201|Orphanet:75496|SCTID:720861000|UMLS:C1869122	mondo.json	PDS|defective biosynthesis of proteodermatan sulfate|Ehlers-Danlos syndrome, progeroid type (former)|Ehlers-Danlos syndrome progeroid type|Pds, defective biosynthesis of|Ehlers-Danlos syndrome, spondylodysplastic type, 1|xylosylprotein 4-beta-galactosyltransferase deficiency|EDSSPD1|galactosyltransferase I deficiency|EDS, progeroid type|dermatan sulfate proteoglycan|spondylodysplastic Ehlers-Danlos syndrome|proteodermatan sulfate, defective biosynthesis of|B4GALT7-CDG|Ehlers-Danlos syndrome with short stature and limb anomalies|XGPT deficiency|galactosyltransferase 1 deficiency|Ehlers-Danlos syndrome, progeroid type	http://purl.obolibrary.org/obo/MONDO_0007526	Orphanet:75496|UMLS:C1869122|http://identifiers.org/mesh/C536201|http://identifiers.org/snomedct/720861000|DOID:0050802	ordo_disease
MONDO:0007527	biolink:Disease	Ehlers-Danlos syndrome, periodontitis type	Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.	MESH:C562626|Orphanet:75392|SCTID:50869007|GARD:0012474	mondo.json	Ehlers-Danlos syndrome, periodontosis type|EDS 8|Ehlers-Danlos syndrome, periodontitis type|Ehlers-Danlos syndrome type 8|EDS VIII|Ehlers-Danlos syndrome, type 8|pEDS|EDS VIII (formerly)|periodontal Ehlers-Danlos syndrome|periodontal EDS|Ehlers-Danlos syndrome type 8 (formerly)|Ehlers-Danlos syndrome, type VIII|EDS8|Ehlers-Danlos syndrome, type VIII (formerly)|EDS8 (formerly)	http://purl.obolibrary.org/obo/MONDO_0007527	http://identifiers.org/mesh/C562626|Orphanet:75392|http://identifiers.org/snomedct/50869007	ordo_disease
MONDO:0007524	biolink:Disease	autosomal dominant Ehlers-Danlos syndrome, vascular type	The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.	OMIM:130050|DOID:14756	mondo.json	Ehlers-Danlos syndrome, Ecchymotic type|autosomal dominant Ehlers-Danlos syndrome, vascular type|Ehlers-Danlos syndrome, vascular type|Ehlers-Danlos syndrome, type IV, autosomal dominant|Ehlers-Danlos syndrome, vascular type, autosomal dominant|Ehlers-Danlos syndrome, sack-Barabas type|EDS 4|autosomal dominant type IV Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, arterial type|EDSVASC	http://purl.obolibrary.org/obo/MONDO_0007524	DOID:14756|https://omim.org/entry/130050	
MONDO:0007525	biolink:Disease	Ehlers-Danlos syndrome, arthrochalasis type	Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.	MESH:C562625|NCIT:C125701|OMIM:130060|GARD:0002084|SCTID:4170004|Orphanet:1899|UMLS:CN200649	mondo.json	Ehlers-Danlos syndrome type 7|arthrochalasia Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, type VII, autosomal dominant|Ehlers-Danlos syndrome type 7A (formerly)|AEDS|EDS VII|EDS VII, mutant procollagen type|EDSARTH1|arthrochalasia EDS|arthrochalasis multiplex congenita|Ehlers-Danlos syndrome, arthrochalasia type|Ehlers-Danlos syndrome, arthrochalasia type, 1|Ehlers-Danlos syndrome, type VIIA, autosomal dominant|Ehlers-Danlos syndrome, type VII|EDS 7B|EDS 7A|EDS7A (formerly)	http://purl.obolibrary.org/obo/MONDO_0007525	NCIT:C125701|http://identifiers.org/mesh/C562625|http://identifiers.org/snomedct/4170004|UMLS:CN200649|Orphanet:1899|https://omim.org/entry/130060	ordo_disease|gard_rare
MONDO:0020500	biolink:Disease	Marburg hemorrhagic fever	Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure.	MESH:D008379|NCIT:C84883|ICD9:078.89|EFO:0007358|UMLS:C0024788|GARD:0009444|SCTID:77503002|DOID:4327|Orphanet:99826|MedDRA:10026822	mondo.json	MHF|Marburg disease|Marburg virus disease|Green monkey disease	http://purl.obolibrary.org/obo/MONDO_0020500	http://identifiers.org/mesh/D008379|DOID:4327|http://identifiers.org/snomedct/77503002|UMLS:C0024788|NCIT:C84883|Orphanet:99826	ordo_disease|gard_rare
MONDO:0007522	biolink:Disease	Ehlers-Danlos syndrome, classic type	Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility.	SCTID:715318006|UMLS:C0220679|Orphanet:287|UMLS:C4225429|GARD:0002088	mondo.json	Ehlers-Danlos syndrome classical type|Ehlers-Danlos syndrome, classic type|Ehlers-Danlos syndrome classic type|Ehlers Danlos syndrome, mild classic type, formerly|Ehlers-Danlos syndrome, type II, formerly|Ehlers Danlos syndrome, mild classic type|EDS, classic type|Ehlers-Danlos syndrome type 1 (formerly)|Ehlers-Danlos syndrome, severe classic type, formerly|Ehlers-Danlos syndrome, type II|classical Ehlers-Danlos syndrome|Ehlers-Danlos syndrome type 2 (formerly)|EDS I, formerly|Ehlers-Danlos syndrome, severe classic type|EDS II, formerly|Ehlers Danlos syndrome, mitis type, formerly|EDS I|Ehlers-Danlos syndrome, gravis type, formerly|EDS II|Ehlers Danlos syndrome, mitis type|Ehlers-Danlos syndrome, type I, formerly|Ehlers-Danlos syndrome, gravis type|Ehlers-Danlos syndrome type 2|classic Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, type I	http://purl.obolibrary.org/obo/MONDO_0007522	http://identifiers.org/snomedct/715318006|Orphanet:287|UMLS:C4225429	ordo_disease
NCBITaxon:29178	biolink:OrganismalEntity	Foraminifera		GC_ID:1	mondo.json	Foraminiferida|forams|foraminifers	http://purl.obolibrary.org/obo/NCBITaxon_29178		
MONDO:0007523	biolink:Disease	Ehlers-Danlos syndrome, hypermobility type	Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.	NCIT:C125698|SCTID:30652003|GARD:0002081|OMIM:130020|Orphanet:285|UMLS:C0268337|DOID:14757|MESH:C536196	mondo.json	hypermobile EDS|EDS3 (formerly)|Ehlers-Danlos syndrome, hypermobility type|EDS III|Ehlers-Danlos syndrome type 3 (formerly)|benign joint hypermobility syndrome|Ehlers-Danlos syndrome, type III|Ehlers-Danlos syndrome type 3|hEDS|Ehlers-Danlos syndrome, type 3|EDS 3|EDSHMB|benign hypermobility syndrome|HT-EDS|BJHS|Ehlers-Danlos syndrome, hypermobile type|hypermobile Ehlers-Danlos syndrome	http://purl.obolibrary.org/obo/MONDO_0007523	UMLS:C0268337|http://identifiers.org/mesh/C536196|Orphanet:285|DOID:14757|https://omim.org/entry/130020|http://identifiers.org/snomedct/30652003|NCIT:C125698	ordo_disease
MONDO:0007520	biolink:Disease	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1	An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.	DOID:0060784|OMIM:129900|MESH:C565062	mondo.json	EEC syndrome 1|EEC syndrome-1|EEC|ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 1|ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 1|EEC1	http://purl.obolibrary.org/obo/MONDO_0007520	http://identifiers.org/mesh/C565062|https://omim.org/entry/129900|DOID:0060784	
MONDO:0007521	biolink:Disease	obsolete egasyn		OMIM:129905	mondo.json	esterase 22|egasyn	http://purl.obolibrary.org/obo/MONDO_0007521	https://omim.org/entry/129905	
MONDO:0019519	biolink:Disease	obsolete rare skin disease	OBSOLETE. Rare skin disease.	Orphanet:89826|UMLS:CN206332	mondo.json	rare skin disease	http://purl.obolibrary.org/obo/MONDO_0019519	Orphanet:89826|UMLS:CN206332	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0019518	biolink:Disease	Waardenburg-Shah syndrome	Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease.	UMLS:CN206330|NCIT:C124842|Orphanet:897|GARD:0005524	mondo.json	Waardenburg-Hirschsprung disease|WS4|Waardenburg-Shah syndrome|Waardenburg syndrome type IV|Hirschsprung disease with pigmentary anomaly|Waardenburg syndrome type 4|Shah-Waardenburg syndrome|Waardenburg-Hirschsprung syndrome	http://purl.obolibrary.org/obo/MONDO_0019518	NCIT:C124842|Orphanet:897|UMLS:CN206330	ordo_disease|gard_rare
MONDO:0019515	biolink:Disease	obsolete rare dementia	OBSOLETE. Rare dementia.	UMLS:CN227644|Orphanet:89043	mondo.json	rare dementia	http://purl.obolibrary.org/obo/MONDO_0019515	UMLS:CN227644|Orphanet:89043	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0019514	biolink:Disease	hepatic veno-occlusive disease	Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins.	MESH:D006504|Orphanet:890|ICD10CM:K76.5|UMLS:C0019156|MedDRA:10047216|DOID:0080177|ICD9:453.89|GARD:0013004|NCIT:C26793|SCTID:65617004	mondo.json	liver veno-occlusive disease|hepatic Vod|veno-occlusive disease|sinusoidal obstruction syndrome	http://purl.obolibrary.org/obo/MONDO_0019514	http://purl.bioontology.org/ontology/ICD10CM/K76.5|http://identifiers.org/snomedct/65617004|DOID:0080177|UMLS:C0019156|Orphanet:890|http://identifiers.org/mesh/D006504|NCIT:C26793	gard_rare|ordo_disease
MONDO:0019517	biolink:Disease	Waardenburg syndrome type 2	Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.	ICD10CM:E70.3|NCIT:C75009|Orphanet:895|GARD:0005520|UMLS:C2700265|MESH:C536463	mondo.json	Waardenburg syndrome type 2|WS2|Waardenburg syndrome type II|WS type 2|WS 2	http://purl.obolibrary.org/obo/MONDO_0019517	UMLS:C2700265|NCIT:C75009|http://identifiers.org/mesh/C536463|Orphanet:895	gard_rare|ordo_clinical_subtype
MONDO:0019516	biolink:Disease	exudative vitreoretinopathy	Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.	GARD:0001613|ICD9:362.10|DOID:0050535|OMIMPS:133780|Orphanet:891|MESH:C580083|UMLS:C4072980|SCTID:232063007	mondo.json	FEVR|Criswick-Schepens syndrome|familial exudative vitreoretinopathy|exudative vitreoretinopathy, familial	http://purl.obolibrary.org/obo/MONDO_0019516	DOID:0050535|Orphanet:891|http://identifiers.org/snomedct/232063007|https://omim.org/phenotypicSeries/PS133780|http://identifiers.org/mesh/C580083|UMLS:C4072980	ordo_disease
MONDO:0019511	biolink:Disease	obsolete autosomal dominant medullary cystic kidney disease with hyperuricemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019511		
MONDO:0019510	biolink:Disease	obsolete autosomal dominant medullary cystic kidney disease without hyperuricemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019510		
MONDO:0019513	biolink:Disease	esophageal malformation		Orphanet:88993	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019513	Orphanet:88993	ordo_group_of_disorders|disease_grouping
MONDO:0019512	biolink:Disease	congenital heart malformation	A disease that has its basis in the disruption of heart development.	EFO:0005269|Orphanet:88991	mondo.json	rare congenital non-syndromic heart malformation|congenital non-syndromic heart malformation|heart development disease|congenital heart malformation|disorder of heart development	http://purl.obolibrary.org/obo/MONDO_0019512	Orphanet:88991	disease_grouping|ordo_group_of_disorders
FOODON:03460119	biolink:NamedThing	microbial/enzymatic modification process	A food modification process by microbial or enzymatic action which results in molecular changes in any food component.	http://www.langual.org/langual_thesaurus.asp?termid=H0119	mondo.json		http://purl.obolibrary.org/obo/FOODON_03460119		
MONDO:0007539	biolink:Disease	encephalopathy, recurrent, of childhood		OMIM:130950|MESH:C536407|GARD:0002117|Orphanet:2672	mondo.json	encephalopathy, recurrent, of childhood|Neuhauser Eichner Opitz syndrome|encephalopathy recurrent of childhood	http://purl.obolibrary.org/obo/MONDO_0007539	https://omim.org/entry/130950|Orphanet:2672|http://identifiers.org/mesh/C536407	gard_rare
MONDO:0007537	biolink:Disease	lateral meningocele syndrome		DOID:0111343|GARD:0009873|Orphanet:2789|MESH:C537878|UMLS:C1851710|OMIM:130720	mondo.json	Lehman syndrome|LMNS|Lms|lateral meningocele syndrome	http://purl.obolibrary.org/obo/MONDO_0007537	https://omim.org/entry/130720|UMLS:C1851710|Orphanet:2789|DOID:0111343|http://identifiers.org/mesh/C537878	ordo_malformation_syndrome
MONDO:0007538	biolink:Disease	amelogenesis imperfecta, type 3A	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene.	Orphanet:100032|OMIM:130900|DOID:0110055|MESH:C562880|SCTID:109471001	mondo.json	autosomal dominant amelogenesis imperfecta hypocalcification type|amelogenesis imperfecta, type 3|amelogenesis imperfecta, type III|AI3|amelogenesis imperfecta caused by mutation in FAM83H|FAM83H amelogenesis imperfecta|amelogenesis imperfecta, hypocalcification type, autosomal dominant|amelogenesis imperfecta, type 3A|amelogenesis imperfecta type 3|amelogenesis imperfecta type 3A|amelogenesis imperfecta hypomineralization type|AI3A|amelogenesis imperfecta type III|ADHCAI|amelogenesis imperfecta, hypomineralization type|amelogenesis imperfecta, type IIIA	http://purl.obolibrary.org/obo/MONDO_0007538	http://identifiers.org/mesh/C562880|https://omim.org/entry/130900|DOID:0110055|http://identifiers.org/snomedct/109471001|Orphanet:100032	ordo_clinical_subtype
MONDO:0007535	biolink:Disease	emphysema, hereditary pulmonary		MESH:C565057|OMIM:130700|UMLS:C1851718	mondo.json	emphysema, hereditary pulmonary	http://purl.obolibrary.org/obo/MONDO_0007535	UMLS:C1851718|http://identifiers.org/mesh/C565057|https://omim.org/entry/130700	
MONDO:0007536	biolink:Disease	congenital lobar emphysema	Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung.	NCIT:C98895|MedDRA:10010456|MESH:C535735|UMLS:C0265797|GARD:0002104|SCTID:66987001|Orphanet:1928|OMIM:130710	mondo.json	infantile lobar hyperinflation|emphysema, congenital lobar|CLE|congenital lobar hyperinflation	http://purl.obolibrary.org/obo/MONDO_0007536	Orphanet:1928|UMLS:C0265797|http://identifiers.org/snomedct/66987001|http://identifiers.org/mesh/C535735|NCIT:C98895|https://omim.org/entry/130710	ordo_morphological_anomaly
MONDO:0007533	biolink:Disease	elliptocytosis 2	Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene.	UMLS:C1851741|MESH:C565058|OMIM:130600	mondo.json	elliptocytosis 2|elliptocytosis, Rhesus-unlinked type|elliptocytosis-2|SPTA1 hereditary elliptocytosis|EL2|elliptocytosis type 2|hereditary elliptocytosis caused by mutation in SPTA1	http://purl.obolibrary.org/obo/MONDO_0007533	UMLS:C1851741|http://identifiers.org/mesh/C565058|https://omim.org/entry/130600	
MONDO:0007534	biolink:Disease	Beckwith-Wiedemann syndrome	Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.	MedDRA:10050344|NCIT:C34415|ICD9:759.89|UMLS:C0004903|OMIM:130650|SCTID:81780002|GARD:0003343|Orphanet:116|DOID:5572|MESH:D001506	mondo.json	exomphalos-macroglossia-gigantism syndrome|BWS|EMG syndrome|Beckwith-Wiedemann syndrome chromosome region|Wiedemann-Beckwith syndrome (WBS)|Beckwith-Wiedemann syndrome|Wiedemann-Beckwith syndrome|exomphalos macroglossia gigantism syndrome	http://purl.obolibrary.org/obo/MONDO_0007534	UMLS:C0004903|http://identifiers.org/mesh/D001506|Orphanet:116|DOID:5572|NCIT:C34415|http://identifiers.org/snomedct/81780002|https://omim.org/entry/130650	gard_rare|ordo_malformation_syndrome
FOODON:03460130	biolink:NamedThing	physical/chemical modification process	A food modification process where physical or chemical changes are effected in any food ingredient through a physical or non-enzymatic chemical process.	http://www.langual.org/langual_thesaurus.asp?termid=H0130	mondo.json		http://purl.obolibrary.org/obo/FOODON_03460130		
MONDO:0007531	biolink:Disease	electroencephalographic peculiarity: fronto-precentral beta wave groups		OMIM:130300	mondo.json	electroencephalographic peculiarity: fronto-precentral beta wave groups	http://purl.obolibrary.org/obo/MONDO_0007531	https://omim.org/entry/130300	
MONDO:0007532	biolink:Disease	obsolete Electroencephalographic peculiarity: occipital slow beta waves		OMIM:130400	mondo.json	Electroencephalographic peculiarity: occipital slow beta waves	http://purl.obolibrary.org/obo/MONDO_0007532	https://omim.org/entry/130400	
MONDO:0007530	biolink:Disease	electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon		OMIM:130200	mondo.json	electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon	http://purl.obolibrary.org/obo/MONDO_0007530	https://omim.org/entry/130200	
NCBITaxon:29169	biolink:OrganismalEntity	Ancylostoma		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_29169		
MONDO:0019508	biolink:Disease	van der Woude syndrome	Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.	MESH:C536528|GARD:0008414|ICD9:744.89|Orphanet:888|NCIT:C74986|DOID:0060239|OMIM:604547|UMLS:C0175697|SCTID:79261008	mondo.json	cleft lip/palate with mucous cysts of lower lip|cleft lip and/or palate with mucous cysts of lower lip|LPS|VWS|lip-pit syndrome|lip pit syndrome	http://purl.obolibrary.org/obo/MONDO_0019508	NCIT:C74986|UMLS:C0175697|http://identifiers.org/snomedct/79261008|http://identifiers.org/mesh/C536528|Orphanet:888|DOID:0060239	ordo_malformation_syndrome
MONDO:0019507	biolink:Disease	amelogenesis imperfecta	Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.	CSP:0828-0533|SCTID:78494001|Orphanet:88661|MESH:D000567|GARD:0005791|OMIMPS:104500|ICD9:520.5|DOID:2187	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019507	Orphanet:88661|http://identifiers.org/mesh/D000567|https://omim.org/phenotypicSeries/PS104500|DOID:2187|http://identifiers.org/snomedct/78494001	ordo_disease|gard_rare|clingen
MONDO:0019509	biolink:Disease	cutaneous leukocytoclastic angiitis	Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms.	GARD:0007851|SCTID:718217000|NCIT:C122919|Orphanet:889	mondo.json	cutaneous small vessel vasculitis|cutaneous small-vessel vasculitis|cutaneous leukocytoclastic vasculitis|cutaneous hypersensitivity vasculitis|leukocytoclastic angiitis|hypersensitivity angiitis	http://purl.obolibrary.org/obo/MONDO_0019509	http://identifiers.org/snomedct/718217000|NCIT:C122919|Orphanet:889	ordo_disease
UBERON:0004395	biolink:AnatomicalEntity	epiphysis of first metatarsal bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004395		
MONDO:0019504	biolink:Disease	superior limbic keratoconjunctivitis	Superior limbic keratoconjunctivitis (SLK) is a chronic and recurrent eye disease which affects thesuperior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea). It is commonly found in women 20-70 years of age. The signs and symptoms include burning, redness and irritation and tend to develop slowly over a period of 1 to 10 years.Vision usually remains intact. While the underlying cause ofSLK remains unknown, it is believed that the condition issecondary to superior bulbar conjunctiva laxity. Factors inducing conjunctiva laxity include thyroid eye disease (usually hyperthyroidism), tight upper eyelids, and prominent globes. A mimicking disorder has been encountered in soft contact lens (SCL) wearers, typically with exposure to thimerosal-preserved solutions. Treatment of SLK may involve the use of various medications, surgery, or a combination of both.	ICD9:370.49|SCTID:231903005|UMLS:C0339229|GARD:0010940|ICD10CM:H16.2|Orphanet:88633	mondo.json	Theodore's syndrome|Theodore's superior limbic keratoconjunctivitis|SLK|Theodores syndrome|Theodores superior limbic keratoconjunctivitis	http://purl.obolibrary.org/obo/MONDO_0019504	Orphanet:88633|http://identifiers.org/snomedct/231903005|UMLS:C0339229	ordo_disease|gard_rare
MONDO:0019503	biolink:Disease	anterior segment dysgenesis	A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis).	OMIMPS:107250|Orphanet:88632|GARD:0010025|ICD9:743.49|SCTID:65075004	mondo.json	ASMD|ASOD|anterior segment ocular dysgenesis|anterior segment mesenchymal dysgenesis|familial ocular anterior segment mesenchymal dysgenesis|ASGD	http://purl.obolibrary.org/obo/MONDO_0019503	http://identifiers.org/snomedct/65075004|https://omim.org/phenotypicSeries/PS107250|Orphanet:88632	ordo_group_of_disorders|gard_rare|disease_grouping
UBERON:0004390	biolink:AnatomicalEntity	epiphysis of metacarpal bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004390		
MONDO:0019506	biolink:Disease	obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome	Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.	SCTID:722051004|Orphanet:88643|UMLS:CN227640	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019506	Orphanet:88643|http://identifiers.org/snomedct/722051004|UMLS:CN227640	ordo_disease
UBERON:0004391	biolink:AnatomicalEntity	epiphysis of first metacarpal bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004391		
MONDO:0019505	biolink:Disease	hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia.	OMIM:607694|Orphanet:88637|UMLS:CN206304	mondo.json	4H syndrome	http://purl.obolibrary.org/obo/MONDO_0019505	Orphanet:88637|UMLS:CN206304	ordo_disease
MONDO:0019500	biolink:Disease	extragonadal teratoma	Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor.	SCTID:768937006|MedDRA:10043276|MESH:D013724|Orphanet:883	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019500	Orphanet:883|http://identifiers.org/snomedct/768937006	ordo_disease
MONDO:0019502	biolink:Disease	autosomal recessive non-syndromic intellectual disability	Autosomal recessive form of non-syndromic intellectual disability.	OMIM:615493|DOID:0060308|UMLS:CN206293|OMIM:615637|OMIMPS:249500|OMIM:615599|Orphanet:88616|OMIM:615541	mondo.json	autosomal recessive non-syndromic mental retardation|autosomal recessive mental retardation|AR-NSID|autosomal recessive intellectual disability|mental retardation, autosomal recessive|autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive|NS-ARID|non-syndromic intellectual disability, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0019502	Orphanet:88616|https://omim.org/phenotypicSeries/PS249500|UMLS:CN206293|DOID:0060308	
MONDO:0019501	biolink:Disease	Usher syndrome	A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss.	Orphanet:886|NCIT:C85217|DOID:0050439|OMIMPS:276900|MedDRA:10063396|ICD10CM:H35.5|MESH:D052245|GARD:0007843|UMLS:C0271097	mondo.json	Graefe-Usher syndrome|dystrophia retinae pigmentosa-dysostosis syndrome|retinitis pigmentosa-deafness syndrome|deafness-retinitis pigmentosa syndrome|Hallgren syndrome|Usher's syndrome|ush	http://purl.obolibrary.org/obo/MONDO_0019501	https://omim.org/phenotypicSeries/PS276900|UMLS:C0271097|DOID:0050439|Orphanet:886|http://identifiers.org/mesh/D052245|NCIT:C85217	ordo_disease
CHEBI:23906	biolink:ChemicalSubstance	monoatomic cation			mondo.json	monoatomic cations	http://purl.obolibrary.org/obo/CHEBI_23906		
CHEBI:23905	biolink:ChemicalSubstance	monoatomic anion			mondo.json	monoatomic anions	http://purl.obolibrary.org/obo/CHEBI_23905		
UBERON:0004399	biolink:AnatomicalEntity	epiphysis of fifth metatarsal bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004399		
GO:0042088	biolink:NamedThing	T-helper 1 type immune response	An immune response which is associated with resistance to intracellular bacteria, fungi, and protozoa, and pathological conditions such as arthritis, and which is typically orchestrated by the production of particular cytokines by T-helper 1 cells, most notably interferon-gamma, IL-2, and lymphotoxin.		mondo.json	Th1 immune response	http://purl.obolibrary.org/obo/GO_0042088		
CHEBI:33352	biolink:ChemicalSubstance	manganese group element atom			mondo.json	manganese group element|group 7 elements|manganese group elements	http://purl.obolibrary.org/obo/CHEBI_33352		
UBERON:0006960	biolink:AnatomicalEntity	ovary stroma			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006960		
CHEBI:33356	biolink:ChemicalSubstance	iron group element atom			mondo.json	group 8 elements|iron group element|iron group elements	http://purl.obolibrary.org/obo/CHEBI_33356		
CHEBI:33358	biolink:ChemicalSubstance	cobalt group element atom			mondo.json	cobalt group elements|group 9 elements|cobalt group element	http://purl.obolibrary.org/obo/CHEBI_33358		
PATO:0002266	biolink:NamedThing	3-D shape	A shape that inheres in a 3 dimensional entity.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002266		
UBERON:0006966	biolink:AnatomicalEntity	coronary capillary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006966		
GO:0019730	biolink:NamedThing	antimicrobial humoral response	An immune response against microbes mediated through a body fluid. Examples of this process are seen in the antimicrobial humoral response of Drosophila melanogaster and Mus musculus.		mondo.json		http://purl.obolibrary.org/obo/GO_0019730		
UBERON:0006965	biolink:AnatomicalEntity	vascular cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006965		
UBERON:0006964	biolink:AnatomicalEntity	pars distalis of adenohypophysis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006964		
UBERON:0004301	biolink:AnatomicalEntity	middle phalanx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004301		
UBERON:0004302	biolink:AnatomicalEntity	proximal phalanx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004302		
UBERON:0004300	biolink:AnatomicalEntity	distal phalanx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004300		
GO:0042092	biolink:NamedThing	type 2 immune response	An immune response which is associated with resistance to extracellular organisms such as helminths and pathological conditions such as allergy, which is orchestrated by the production of particular cytokines, most notably IL-4, IL-5, IL-10, and IL-13, by any of a variety of cell types including T-helper 2 cells, eosinophils, basophils, mast cells, and nuocytes, resulting in enhanced production of certain antibody isotypes and other effects.		mondo.json	T-helper 2 type immune response|Th2 immune response	http://purl.obolibrary.org/obo/GO_0042092		
UBERON:0006948	biolink:AnatomicalEntity	efferent duct epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006948		
UBERON:0006947	biolink:AnatomicalEntity	male genital duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006947		
GO:0005102	biolink:NamedThing	signaling receptor binding	Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.		mondo.json	receptor ligand|receptor binding|receptor-associated protein activity	http://purl.obolibrary.org/obo/GO_0005102		
GO:0019747	biolink:NamedThing	regulation of isoprenoid metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving isoprenoids.		mondo.json	regulation of isoprenoid metabolism	http://purl.obolibrary.org/obo/GO_0019747		
UBERON:0006957	biolink:AnatomicalEntity	submandibular gland primordium epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006957		
UBERON:0006956	biolink:AnatomicalEntity	buccal mucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006956		
UBERON:0006955	biolink:AnatomicalEntity	uterine epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006955		
UBERON:0006953	biolink:AnatomicalEntity	ejaculatory duct epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006953		
CHEBI:33362	biolink:ChemicalSubstance	nickel group element atom			mondo.json	nickel group element|nickel group elements|group 10 elements	http://purl.obolibrary.org/obo/CHEBI_33362		
UBERON:0006938	biolink:AnatomicalEntity	pinna surface epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006938		
UBERON:0006937	biolink:AnatomicalEntity	inner ear epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006937		
UBERON:0006936	biolink:AnatomicalEntity	thymus subcapsular epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006936		
CHEBI:35992	biolink:ChemicalSubstance	penams	Natural and synthetic antibiotics containing the 4-thia-1-azabicyclo[3.2.0]heptan-7-one structure, generally assumed to have the 5R configuration unless otherwise specified.		mondo.json	penams	http://purl.obolibrary.org/obo/CHEBI_35992		
PATO:0002287	biolink:NamedThing	increased elasticity	An elasticity which is relatively high.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002287		
PATO:0002288	biolink:NamedThing	decreased elasticity	An elasticity which is relatively low.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002288		
UBERON:0006946	biolink:AnatomicalEntity	efferent duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006946		
UBERON:0006929	biolink:AnatomicalEntity	glandular columnar epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006929		
UBERON:0006925	biolink:AnatomicalEntity	digestive system gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006925		
GO:0019724	biolink:NamedThing	B cell mediated immunity	Any process involved with the carrying out of an immune response by a B cell, through, for instance, the production of antibodies or cytokines, or antigen presentation to T cells.		mondo.json	B-cell mediated immunity|B lymphocyte mediated immunity|B-lymphocyte mediated immunity|B-lymphocyte mediated immune effector process|B lymphocyte mediated immune effector process|B-cell mediated immune effector process	http://purl.obolibrary.org/obo/GO_0019724		
GO:0019725	biolink:NamedThing	cellular homeostasis	Any process involved in the maintenance of an internal steady state at the level of the cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0019725		
PATO:0002299	biolink:NamedThing	tubular	A cylindrical shape that is hollow.		mondo.json	tube like|tube-shaped|tubulate	http://purl.obolibrary.org/obo/PATO_0002299		
FOODON:03315468	biolink:NamedThing	shellfish meat (whole or parts)		SUBSET_SIREN:F15468	mondo.json		http://purl.obolibrary.org/obo/FOODON_03315468		"subset_siren"
UBERON:0006934	biolink:AnatomicalEntity	sensory epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006934		
HGNC:2501	biolink:NamedThing	CTH			mondo.json		http://identifiers.org/hgnc/2501		
UBERON:0006932	biolink:AnatomicalEntity	vestibular epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006932		
UBERON:0006931	biolink:AnatomicalEntity	stomach glandular region mucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006931		
UBERON:0006930	biolink:AnatomicalEntity	glandular cuboidal epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006930		
CHEBI:33340	biolink:ChemicalSubstance	zinc group element atom			mondo.json	group 12 elements|zinc group elements|zinc group element	http://purl.obolibrary.org/obo/CHEBI_33340		
HGNC:2509	biolink:NamedThing	CTNNA1			mondo.json		http://identifiers.org/hgnc/2509		
HGNC:2505	biolink:NamedThing	CTLA4			mondo.json		http://identifiers.org/hgnc/2505		
CHEBI:33318	biolink:ChemicalSubstance	main group element atom	An atom belonging to one of the main groups (found in the s- and p- blocks) of the periodic table.		mondo.json	main group element|main group elements|Hauptgruppenelemente|Hauptgruppenelement	http://purl.obolibrary.org/obo/CHEBI_33318		
UBERON:0004341	biolink:AnatomicalEntity	primitive streak			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004341		
UBERON:0004340	biolink:AnatomicalEntity	allantois			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004340		
HGNC:2511	biolink:NamedThing	CTNNA3			mondo.json		http://identifiers.org/hgnc/2511		
UBERON:0004347	biolink:AnatomicalEntity	limb bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004347		
UBERON:0004348	biolink:AnatomicalEntity	optic eminence			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004348		
UBERON:0004345	biolink:AnatomicalEntity	trophectoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004345		
UBERON:0004346	biolink:AnatomicalEntity	gubernaculum (male or female)			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004346		
HGNC:2519	biolink:NamedThing	CTPS1			mondo.json		http://identifiers.org/hgnc/2519		
HGNC:2518	biolink:NamedThing	CTNS			mondo.json		http://identifiers.org/hgnc/2518		
HGNC:2515	biolink:NamedThing	CTNND1			mondo.json		http://identifiers.org/hgnc/2515		
HGNC:2514	biolink:NamedThing	CTNNB1			mondo.json		http://identifiers.org/hgnc/2514		
CHEBI:33327	biolink:ChemicalSubstance	silicon oxide			mondo.json	oxides of silicon|silicon oxides	http://purl.obolibrary.org/obo/CHEBI_33327		
HP:0004408	biolink:PhenotypicFeature	Abnormality of the sense of smell	An anomaly in the ability to perceive and distinguish scents (odors).	UMLS:C4021655	mondo.json	Abnormality of the sense of smell|Abnormality of olfaction|Abnormal sense of smell|Smell defect	http://purl.obolibrary.org/obo/HP_0004408		hposlim_core
UBERON:0004331	biolink:AnatomicalEntity	proximal phalanx of manual digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004331		
NCBITaxon:272561	biolink:OrganismalEntity	Chlamydia trachomatis D/UW-3/CX		GC_ID:11	mondo.json	Chlamydia trachomatis strain D/UW-3/CX|Chlamydia trachomatis str. D/UW-3/CX	http://purl.obolibrary.org/obo/NCBITaxon_272561		
UBERON:0004338	biolink:AnatomicalEntity	proximal phalanx of manual digit 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004338		
HGNC:2523	biolink:NamedThing	CTRC			mondo.json		http://identifiers.org/hgnc/2523		
UBERON:0004336	biolink:AnatomicalEntity	proximal phalanx of pedal digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004336		
UBERON:0004337	biolink:AnatomicalEntity	distal phalanx of manual digit 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004337		
UBERON:0004332	biolink:AnatomicalEntity	proximal phalanx of pedal digit 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004332		
HGNC:2529	biolink:NamedThing	CTSD			mondo.json		http://identifiers.org/hgnc/2529		
HGNC:2528	biolink:NamedThing	CTSC			mondo.json		http://identifiers.org/hgnc/2528		
CHEBI:23976	biolink:ChemicalSubstance	ethanediol	Any diol that is ethane or substituted ethane carrying two hydroxy groups.		mondo.json	ethanediols	http://purl.obolibrary.org/obo/CHEBI_23976		
UBERON:0004319	biolink:AnatomicalEntity	distal phalanx of pedal digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004319		
NCBITaxon:103829	biolink:OrganismalEntity	Thelazioidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_103829		
NCBITaxon:103828	biolink:OrganismalEntity	Thelaziidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_103828		
NCBITaxon:103826	biolink:OrganismalEntity	Thelazia		GC_ID:1	mondo.json	eyeworms	http://purl.obolibrary.org/obo/NCBITaxon_103826		
OBO:pato#increased_in_magnitude_relative_to	biolink:NamedThing	increased_in_magnitude_relative_to	q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale.		mondo.json		http://purl.obolibrary.org/obo/pato#increased_in_magnitude_relative_to		
UBERON:0004327	biolink:AnatomicalEntity	middle phalanx of pedal digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004327		
HGNC:2531	biolink:NamedThing	CTSF			mondo.json		http://identifiers.org/hgnc/2531		
UBERON:0004323	biolink:AnatomicalEntity	middle phalanx of manual digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004323		
UBERON:0006984	biolink:AnatomicalEntity	anatomical surface			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006984		
RO:0002180	biolink:NamedThing	has component	w 'has component' p if w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type.		mondo.json		http://purl.obolibrary.org/obo/RO_0002180		
HGNC:2536	biolink:NamedThing	CTSK			mondo.json		http://identifiers.org/hgnc/2536		
CHEBI:33306	biolink:ChemicalSubstance	carbon group element atom			mondo.json	cristallogenes|cristallogene|carbon group elements|carbonoides|group IV elements|carbon group element|group 14 elements	http://purl.obolibrary.org/obo/CHEBI_33306		
CHEBI:33308	biolink:ChemicalSubstance	carboxylic ester	An ester of a carboxylic acid, R(1)C(=O)OR(2), where R(1) = H or organyl and R(2) = organyl.		mondo.json	carboxylic esters|Carboxylic ester|carboxylic acid esters|a carboxylic ester	http://purl.obolibrary.org/obo/CHEBI_33308		
CHEBI:33309	biolink:ChemicalSubstance	noble gas atom			mondo.json	noble gases|noble gas|gas noble|group VIII elements|Edelgas|gases nobles|Edelgase|group 18 elements|gaz noble|inert gases|gaz nobles|rare gases|noble gas	http://purl.obolibrary.org/obo/CHEBI_33309		
CHEBI:33300	biolink:ChemicalSubstance	pnictogen	Any p-block element atom that is in group 15 of the periodic table: nitrogen, phosphorus, arsenic, antimony and bismuth.		mondo.json	group 15 elements|group V elements|nitrogenoides|pnictogens|pnictogenes|nitrogenoideos|pnictogene	http://purl.obolibrary.org/obo/CHEBI_33300		
CHEBI:33302	biolink:ChemicalSubstance	pnictogen molecular entity	A p-block molecular entity containing any pnictogen.		mondo.json	pnictogen molecular entity|pnictogen molecular entities	http://purl.obolibrary.org/obo/CHEBI_33302		
CHEBI:33303	biolink:ChemicalSubstance	chalcogen	Any p-block element belonging to the group 16 family of the periodic table.		mondo.json	group VI elements|chalcogenes|chalcogene|group 16 elements|anfigeno|Chalkogen|calcogenos|chalcogen|Chalkogene|calcogeno|chalcogens|anfigenos	http://purl.obolibrary.org/obo/CHEBI_33303		
PATO:0002254	biolink:NamedThing	flattened	A quality inhering in a bearer by virtue of the bearer's surface becoming more extended in a plane.		mondo.json	compressed	http://purl.obolibrary.org/obo/PATO_0002254		
FOODON:00003402	biolink:NamedThing	pre-harvest food material	Organic food material which has not reached harvestable maturity.		mondo.json		http://purl.obolibrary.org/obo/FOODON_00003402		
CHEBI:33304	biolink:ChemicalSubstance	chalcogen molecular entity	Any p-block molecular entity containing a chalcogen.		mondo.json	chalcogen molecular entity|chalcogen molecular entities|chalcogen compounds	http://purl.obolibrary.org/obo/CHEBI_33304		
PATO:0002255	biolink:NamedThing	grooved	Texture quality inhering in a bearer by virtue of the bearer's being marked with one or more channels.		mondo.json	channeled|creased	http://purl.obolibrary.org/obo/PATO_0002255		
UBERON:0004314	biolink:AnatomicalEntity	distal phalanx of manual digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004314		
UBERON:0004315	biolink:AnatomicalEntity	distal phalanx of pedal digit 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004315		
GO:0030258	biolink:NamedThing	lipid modification	The covalent alteration of one or more fatty acids in a lipid, resulting in a change in the properties of the lipid.		mondo.json		http://purl.obolibrary.org/obo/GO_0030258		
RO:0002297	biolink:NamedThing	results in formation of			mondo.json		http://purl.obolibrary.org/obo/RO_0002297		
GO:0042246	biolink:NamedThing	tissue regeneration	The regrowth of lost or destroyed tissues.		mondo.json		http://purl.obolibrary.org/obo/GO_0042246		
RO:0002295	biolink:NamedThing	results in developmental progression of	p results in the developmental progression of s iff p is a developmental process and s is an anatomical structure and p causes s to undergo a change in state at some point along its natural developmental cycle (this cycle starts with its formation, through the mature structure, and ends with its loss).		mondo.json		http://purl.obolibrary.org/obo/RO_0002295		
HGNC:29086	biolink:NamedThing	CEP135			mondo.json		http://identifiers.org/hgnc/29086		
PATO:0000001	biolink:NamedThing	quality	A dependent entity that inheres in a bearer by virtue of how the bearer is related to other entities		mondo.json		http://purl.obolibrary.org/obo/PATO_0000001		
HGNC:30089	biolink:NamedThing	PWAR1			mondo.json		http://identifiers.org/hgnc/30089		
GO:0030252	biolink:NamedThing	growth hormone secretion	The regulated release of growth hormone from secretory granules into the blood.		mondo.json	somatotropin secretion	http://purl.obolibrary.org/obo/GO_0030252		
MONDO:0020393	biolink:Disease	discrete fibromuscular subaortic stenosis		Orphanet:99052	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020393	Orphanet:99052	ordo_clinical_subtype
MONDO:0020392	biolink:Disease	discrete fixed membranous subaortic stenosis		Orphanet:99051	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020392	Orphanet:99051	ordo_clinical_subtype
MONDO:0020391	biolink:Disease	pulmonary artery coming from the aorta	Pulmonary artery coming from the aorta (PACA) is a cardiac malformation characterized by anomalous origin of one branch of the pulmonary arteries from the ascending aorta and a normal origin of the other pulmonary artery from the right ventricular outflow tract, and presenting with respiratory distress, congestive heart failure and failure to thrive within the first days/months of life.	Orphanet:99050|GARD:0004586	mondo.json	hemitruncus arteriosus|abnormal origin of right or left pulmonary artery from the aorta	http://purl.obolibrary.org/obo/MONDO_0020391	Orphanet:99050	gard_rare|ordo_morphological_anomaly
MONDO:0020390	biolink:Disease	pulmonary artery coming from patent ductus arteriosus		Orphanet:99049	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020390	Orphanet:99049	ordo_morphological_anomaly
RO:0002286	biolink:NamedThing	developmentally succeeded by	Inverse of developmentally preceded by		mondo.json		http://purl.obolibrary.org/obo/RO_0002286		
RO:0002287	biolink:NamedThing	part of developmental precursor of			mondo.json		http://purl.obolibrary.org/obo/RO_0002287		
MONDO:0020399	biolink:Disease	congenital hypoplasia of the mitral valve annulus	Hypoplasia of the mitral valve annulus is a rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome.	ICD9:746.89|ICD10CM:Q23.2|SCTID:449270002|Orphanet:99058|UMLS:C3165203	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020399	http://identifiers.org/snomedct/449270002|Orphanet:99058|UMLS:C3165203	ordo_morphological_anomaly
MONDO:0020398	biolink:Disease	congenital mitral stenosis	Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnoea, cough, cyanosis and congestive heart failure.	Orphanet:99057|ICD10CM:Q23.2|ICD9:746.5|HP:0011570|GARD:0001496|SCTID:82458004	mondo.json	congenital mitral valve stenosis|congenital mitral stenosis|congenital mitral stenosis (disease)|hereditary mitral valve stenosis	http://purl.obolibrary.org/obo/MONDO_0020398	http://identifiers.org/snomedct/82458004|Orphanet:99057|http://purl.bioontology.org/ontology/ICD10CM/Q23.2	gard_rare|ordo_morphological_anomaly
MONDO:0020397	biolink:Disease	parachute tricuspid valve	Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations.	Orphanet:99056	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020397	Orphanet:99056	ordo_morphological_anomaly
MONDO:0020396	biolink:Disease	anomaly of the tricuspid valve chordae	Anomaly of the tricuspid valve chordae is a rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported.	Orphanet:99055	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020396	Orphanet:99055	ordo_morphological_anomaly
MONDO:0020395	biolink:Disease	valvar pulmonary stenosis	A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow).	Orphanet:99054|MESH:D011666|ICD9:746.02|MedDRA:10037450	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020395	Orphanet:99054	ordo_clinical_subtype
RO:0002285	biolink:NamedThing	developmentally replaces	x developmentally replaces y if and only if there is some developmental process that causes x to move or to cease to exist, and for the site that was occupied by x to become occupied by y, where y either comes into existence in this site or moves to this site from somewhere else		mondo.json		http://purl.obolibrary.org/obo/RO_0002285		
MONDO:0020394	biolink:Disease	tunnel subaortic stenosis		Orphanet:99053	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020394	Orphanet:99053	ordo_clinical_subtype
HGNC:30074	biolink:NamedThing	POLR3A			mondo.json		http://identifiers.org/hgnc/30074		
CHR:9606-chr17q11.2	biolink:NamedThing	17q11.2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr17q11.2		
HGNC:29099	biolink:NamedThing	TELO2			mondo.json		http://identifiers.org/hgnc/29099		
HGNC:29092	biolink:NamedThing	OBSL1			mondo.json		http://identifiers.org/hgnc/29092		
HGNC:29090	biolink:NamedThing	SMCHD1			mondo.json		http://identifiers.org/hgnc/29090		
OBO:cl#lacks_part	biolink:NamedThing	lacks_part			mondo.json		http://purl.obolibrary.org/obo/cl#lacks_part		
HGNC:30078	biolink:NamedThing	REEP6			mondo.json		http://identifiers.org/hgnc/30078		
MONDO:0020382	biolink:Disease	multifocal pattern dystrophy simulating fundus flavimaculatus	Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.	ICD10CM:H35.5|SCTID:723408004|Orphanet:99003|UMLS:CN207256	mondo.json	multifocal pattern dystrophy simulating Stargardt disease	http://purl.obolibrary.org/obo/MONDO_0020382	Orphanet:99003|UMLS:CN207256|http://identifiers.org/snomedct/723408004	ordo_disease
MONDO:0019393	biolink:Disease	idiopathic malabsorption due to bile acid synthesis defects	Idiopathic malabsorption due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea.	Orphanet:84065	mondo.json	idiopathic bile acid malabsorption	http://purl.obolibrary.org/obo/MONDO_0019393	Orphanet:84065	ordo_disease
MONDO:0020381	biolink:Disease	patterned macular dystrophy	A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped.	UMLS:CN207254|Orphanet:99001|OMIM:610125|UMLS:C4511237|ICD10CM:H35.5|DOID:0060863|OMIMPS:169150|SCTID:725590001	mondo.json	patterned dystrophy of retinal pigment epithelium|macular dystrophy, patterned	http://purl.obolibrary.org/obo/MONDO_0020381	UMLS:CN207254|https://omim.org/phenotypicSeries/PS169150|DOID:0060863	
MONDO:0019392	biolink:Disease	syringocystadenoma papilliferum	A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative.	MedDRA:10042926|Orphanet:840|NCIT:C4172|ICDO:8406/0|EFO:1000558|SCTID:239121009|GARD:0005100|UMLS:C0406803|DOID:5445	mondo.json	Syringadenoma papilliferum|SCAP|papillary syringocystadenoma|papillary Syringadenoma (syringocystadenoma papilliferum)|fistulous vegetative verrucous hydradenoma|Syringadenoma|naevus syringocystadenomatosus papilliferus|papillary syringadenoma (morphologic abnormality)|syringocystadenoma papilliferum|papillary Syringadenoma	http://purl.obolibrary.org/obo/MONDO_0019392	NCIT:C4172|UMLS:C0406803|DOID:5445|Orphanet:840|http://identifiers.org/snomedct/239121009	ordo_disease
HGNC:17084	biolink:NamedThing	SYNE2			mondo.json		http://identifiers.org/hgnc/17084		
MONDO:0020380	biolink:Disease	autosomal dominant cerebellar ataxia	A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.	ICD9:334.3|OMIMPS:164400|UMLS:CN227858|DOID:1441|GARD:0004346|Orphanet:99|SCTID:129609000	mondo.json	cerebellar ataxia, autosomal dominant|SCA|Pierre Marie cerebellar ataxia (formerly)|spinocerebellar ataxia|ADCA|autosomal dominant spinocerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0020380	http://identifiers.org/snomedct/129609000|UMLS:CN227858|https://omim.org/phenotypicSeries/PS164400|Orphanet:99|DOID:1441	gard_rare|ordo_group_of_disorders|disease_grouping
MONDO:0019395	biolink:Disease	Hinman syndrome	Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits.	UMLS:C1997362|SCTID:429233001|Orphanet:84085|UMLS:CN206094|ICD9:596.59	mondo.json	Hinman-Allen syndrome|non-neurogenic neurogenic bladder|HS|HAS|occult neuropathic bladder	http://purl.obolibrary.org/obo/MONDO_0019395	UMLS:CN206094|UMLS:C1997362|http://identifiers.org/snomedct/429233001|Orphanet:84085	ordo_disease
MONDO:0019394	biolink:Disease	Senior-Boichis syndrome	Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.	SCTID:717187000|Orphanet:84081|UMLS:CN206093	mondo.json	nephronophthisis-hepatic fibrosis syndrome|Boichis disease	http://purl.obolibrary.org/obo/MONDO_0019394	UMLS:CN206093|http://identifiers.org/snomedct/717187000|Orphanet:84081	ordo_disease
MONDO:0019391	biolink:Disease	Fanconi anemia	Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.	GARD:0006425|DOID:13636|OMIMPS:227650|Orphanet:84|ICD9:284.09|MedDRA:10055206|SCTID:30575002|NCIT:C62505|UMLS:C0015625|MESH:D005199	mondo.json	primary erythroid hypoplasia|pancytopenia, congenital|Fanconi pancytopenia|Fanconi's anemia|Fanconi anemia|Fanconi panmyelopathy|Panmyelopathy, Fanconi	http://purl.obolibrary.org/obo/MONDO_0019391	DOID:13636|http://identifiers.org/snomedct/30575002|http://identifiers.org/mesh/D005199|Orphanet:84|https://omim.org/phenotypicSeries/PS227650|UMLS:C0015625|NCIT:C62505	clingen|ordo_malformation_syndrome
MONDO:0019390	biolink:Disease	Susac syndrome	Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear.	MESH:D055955|UMLS:C2717757|SCTID:702575003|EFO:1001856|Orphanet:838|MedDRA:10071573|GARD:0007713|NCIT:C116363|ICD9:348.39	mondo.json	RED-M|retinopathy-encephalopathy-deafness associated with microangiopathy|SICRET syndrome|Retinocochleocerebral vasculopathy|SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome|small infarctions of cochlear, retinal and encephalic tissue	http://purl.obolibrary.org/obo/MONDO_0019390	http://identifiers.org/snomedct/702575003|UMLS:C2717757|NCIT:C116363|http://identifiers.org/mesh/D055955|Orphanet:838	gard_rare|ordo_disease
HGNC:17082	biolink:NamedThing	MLC1			mondo.json		http://identifiers.org/hgnc/17082		
MONDO:0020389	biolink:Disease	pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome		Orphanet:99048|UMLS:CN207270	mondo.json	APV/PDA, non-Fallot type|absence of pulmonary valve-ventricular septal defect-persistent ductus arteriosus syndrome|pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome|PVA/PDA, non-Fallot type	http://purl.obolibrary.org/obo/MONDO_0020389	Orphanet:99048|UMLS:CN207270	ordo_malformation_syndrome
PATO:0000025	biolink:NamedThing	composition	A single physical entity inhering in an bearer by virtue of the bearer's quantities or relative ratios of subparts.		mondo.json	content|compositionality|composed of|structure, composition	http://purl.obolibrary.org/obo/PATO_0000025		
MONDO:0020388	biolink:Disease	double outlet right ventricle with non-committed subpulmonary ventricular septal defect		Orphanet:99046	mondo.json	DORV with non-committed subpulmonary VSD	http://purl.obolibrary.org/obo/MONDO_0020388	Orphanet:99046	ordo_clinical_subtype
MONDO:0020387	biolink:Disease	double outlet right ventricle with subpulmonary ventricular septal defect		UMLS:CN207267|Orphanet:99045|SCTID:448794008	mondo.json	DORV with subpulmonary VSD|Double outlet right ventricle with transposition of the great arteries|DORV-TGA|Taussig-Bing syndrome	http://purl.obolibrary.org/obo/MONDO_0020387	http://identifiers.org/snomedct/448794008|Orphanet:99045|UMLS:CN207267	ordo_clinical_subtype
MONDO:0020386	biolink:Disease	double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis		ICD10CM:Q21.3|Orphanet:99043|SCTID:253298003	mondo.json	double outlet right ventricle, Fallot type|DORV, Fallot type|DORV with subaortic or doubly committed VSD with pulmonary stenosis	http://purl.obolibrary.org/obo/MONDO_0020386	Orphanet:99043|http://identifiers.org/snomedct/253298003	ordo_clinical_subtype
MONDO:0020385	biolink:Disease	congenitally uncorrected transposition of the great arteries with coarctation		Orphanet:99042	mondo.json	TGA with coarctation|congenitally uncorrected transposition of the great vessels with coarctation	http://purl.obolibrary.org/obo/MONDO_0020385	Orphanet:99042	ordo_clinical_subtype
HGNC:29068	biolink:NamedThing	KATNIP			mondo.json		http://identifiers.org/hgnc/29068		
MONDO:0020384	biolink:Disease	Niemann-Pick disease type E	Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease.	Orphanet:99022|OMIM:607616|SCTID:73399005	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020384	Orphanet:99022|http://identifiers.org/snomedct/73399005	ordo_disease
MONDO:0020383	biolink:Disease	fundus pulverulentus	Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported.	ICD10CM:H35.5|UMLS:CN207257|Orphanet:99004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020383	Orphanet:99004|UMLS:CN207257	ordo_disease
HGNC:30064	biolink:NamedThing	PBRM1			mondo.json		http://identifiers.org/hgnc/30064		
MONDO:0400006	biolink:Disease	botryomycosis	A rare chronic suppurative bacterial infection involving mostly subcutaneous tissues and less frequently other organs. Botryomycosis is mostly caused by Staphylococcus aureus, Escherichia coli and Pseudomonas aeruginosa but the exact pathogenesis remains uncertain. Treatment often requires a combination of both surgical debridement and long-term antimicrobial therapy.	MPATH:859	mondo.json	pyoderma vegetans|bacterial pseudomycosis	http://purl.obolibrary.org/obo/MONDO_0400006		
MONDO:0400004	biolink:Disease	phrynoderma	Phrynoderma is a form of follicular hyperkeratosis seen in young children and adolescents due to nutritional deficiencies. It is clinically characterized by discrete, follicular, skin-colored papules with keratotic plugs distributed over elbows, knees, extensor extremities, and buttocks.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0400004		
MONDO:0400005	biolink:Disease	refeeding syndrome	Potentially fatal shifts in fluids and electrolytes that may occur in malnourished patients receiving artificial refeeding (whether enterally or parenterally).	MESH:D055677	mondo.json		http://purl.obolibrary.org/obo/MONDO_0400005	http://identifiers.org/mesh/D055677	
MONDO:0400002	biolink:Disease	calcium-alkali syndrome	The ingestion of excessive calcium supplementation or calcium containing antacids, and alkali resulting in a triad of hypercalcemia, metabolic alkalosis, and renal insufficiency.		mondo.json	milk-alkali syndrome	http://purl.obolibrary.org/obo/MONDO_0400002		
GO:0030234	biolink:NamedThing	enzyme regulator activity	Binds to and modulates the activity of an enzyme.		mondo.json	enzyme modulator|metalloenzyme regulator activity|catalytic regulator activity	http://purl.obolibrary.org/obo/GO_0030234		
MONDO:0400003	biolink:Disease	skeletal fluorosis	A condition that results from excessive fluoride ingestion leading to fluoride accumulation in the bone progressively over many years. The early symptoms of skeletal fluorosis, include stiffness and pain in the joints. In severe cases, the bone structure may change and ligaments may calcify, with resulting impairment of muscles and pain.		mondo.json	fluorosis of the skeleton	http://purl.obolibrary.org/obo/MONDO_0400003		
MONDO:0400000	biolink:Disease	small intestinal bacterial overgrowth	The presence of excessive bacteria in the small intestine that can result from result from failure of the gastric acid barrier, failure of small intestinal motility, anatomic alterations, or impairment of systemic and local immunity.		mondo.json	SIBO	http://purl.obolibrary.org/obo/MONDO_0400000		
MONDO:0019397	biolink:Disease	unknown leukodystrophy		Orphanet:84096	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019397	Orphanet:84096	ordo_disease
GO:0032892	biolink:NamedThing	positive regulation of organic acid transport	Any process that activates or increases the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	upregulation of organic acid transport|up regulation of organic acid transport|stimulation of organic acid transport|up-regulation of organic acid transport|activation of organic acid transport	http://purl.obolibrary.org/obo/GO_0032892		
HGNC:17089	biolink:NamedThing	SYNE1			mondo.json		http://identifiers.org/hgnc/17089		
GO:0032891	biolink:NamedThing	negative regulation of organic acid transport	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	down regulation of organic acid transport|inhibition of organic acid transport|down-regulation of organic acid transport|downregulation of organic acid transport	http://purl.obolibrary.org/obo/GO_0032891		
MONDO:0019396	biolink:Disease	collagen type III glomerulopathy	Collagen type III glomerulopathy is a rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed.	Orphanet:84087|UMLS:C3872695|UMLS:CN206095|SCTID:708127008|ICD9:583.89	mondo.json	Collagenofibrotic glomerulopathy	http://purl.obolibrary.org/obo/MONDO_0019396	UMLS:CN206095|UMLS:C3872695|http://identifiers.org/snomedct/708127008|Orphanet:84087	ordo_disease
GO:0032890	biolink:NamedThing	regulation of organic acid transport	Any process that modulates the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0032890		
MONDO:0019399	biolink:Disease	Isaac syndrome	Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia.	UMLS:C0751919|SCTID:305719002|Orphanet:84142|UMLS:CN206101|GARD:0006793	mondo.json	Isaac's-Merten's syndrome|Isaac-Mertens syndrome|Isaacs' syndrome|Quantal squander syndrome|acquired neuromyotonia|neuromyotonia|peripheral nerve hyperexcitability|continuous muscle fiber activity syndrome	http://purl.obolibrary.org/obo/MONDO_0019399	Orphanet:84142|UMLS:CN206101|UMLS:C0751919|http://identifiers.org/snomedct/305719002	ordo_disease
MONDO:0019398	biolink:Disease	desmin-related myopathy with Mallory body-like inclusions		Orphanet:84132	mondo.json	early-onset desmin-related myopathy	http://purl.obolibrary.org/obo/MONDO_0019398	Orphanet:84132	ordo_disease
MONDO:0019382	biolink:Disease	obsolete Colorado tick fever			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019382		
MONDO:0020371	biolink:Disease	essential iris atrophy	Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease.	Orphanet:98981|ICD9:364.51|UMLS:C0271111|UMLS:CN207238|SCTID:25913001	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020371	UMLS:C0271111|Orphanet:98981|UMLS:CN207238|http://identifiers.org/snomedct/25913001	ordo_clinical_subtype
MONDO:0020370	biolink:Disease	Cogan-Reese syndrome	Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease.	MedDRA:10059200|UMLS:C1168173|NCIT:C84644|DOID:0060217|Orphanet:98980|SCTID:404633004|GARD:0006125	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020370	NCIT:C84644|http://identifiers.org/snomedct/404633004|Orphanet:98980|UMLS:C1168173|DOID:0060217	gard_rare|ordo_clinical_subtype
MONDO:0019381	biolink:Disease	obsolete eastern equine encephalitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019381		
HGNC:17095	biolink:NamedThing	LARS2			mondo.json		http://identifiers.org/hgnc/17095		
MONDO:0019384	biolink:Disease	encephalitis lethargica	A form of encephalitis, the etiology of which is uncertain, that is characterized by lethargy and headache.	DOID:5225|ICD9:049.8|GARD:0006332|MedDRA:10052369|SCTID:186499007|NCIT:C34576|UMLS:C0014040|NCIT:C26761|Orphanet:83600	mondo.json	Von Economo’s disease|encephalitis lethargica|Von Economo encephalitis|epidemic encephalitis|von Economo disease|lethargic encephalitis|von Economo's disease	http://purl.obolibrary.org/obo/MONDO_0019384	NCIT:C34576|http://identifiers.org/snomedct/186499007|Orphanet:83600|NCIT:C26761|UMLS:C0014040|DOID:5225	historic_epidemic|ordo_disease
HGNC:17098	biolink:NamedThing	DICER1			mondo.json		http://identifiers.org/hgnc/17098		
MONDO:0019383	biolink:Disease	acute disseminated encephalomyelitis	Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system.	GARD:0008639|Orphanet:83597|NCIT:C34578|DOID:639|ICD9:136.9|MESH:D004673|UMLS:C0014059|EFO:0007130|SCTID:83942000	mondo.json	ADE|ADEM|acute disseminated encephalitis|acute disseminated encephalomyelitis	http://purl.obolibrary.org/obo/MONDO_0019383	NCIT:C34578|Orphanet:83597|http://identifiers.org/mesh/D004673|UMLS:C0014059|http://identifiers.org/snomedct/83942000|DOID:639	gard_rare|ordo_disease
HGNC:17091	biolink:NamedThing	NCSTN			mondo.json		http://identifiers.org/hgnc/17091		
MONDO:0019380	biolink:Disease	western equine encephalitis	An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders.	EFO:0007546|NCIT:C85227|GARD:0007888|SCTID:47523006|Orphanet:83593|ICD9:062.1|MESH:D020241|UMLS:C0153064|ICD10CM:A83.1|MedDRA:10014614|DOID:10843	mondo.json	Western equine encephalitis virus caused infectious encephalitis|Western equine encephalitis virus infectious encephalitis|WEE|Western equine encephalomyelitis	http://purl.obolibrary.org/obo/MONDO_0019380	Orphanet:83593|NCIT:C85227|UMLS:C0153064|http://identifiers.org/mesh/D020241|DOID:10843|http://purl.bioontology.org/ontology/ICD10CM/A83.1|http://identifiers.org/snomedct/47523006	ordo_disease|gard_rare
GO:0030224	biolink:NamedThing	monocyte differentiation	The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a monocyte.		mondo.json	monocyte cell differentiation	http://purl.obolibrary.org/obo/GO_0030224		
GO:0030225	biolink:NamedThing	macrophage differentiation	The process in which a relatively unspecialized monocyte acquires the specialized features of a macrophage.		mondo.json	macrophage cell differentiation	http://purl.obolibrary.org/obo/GO_0030225		
GO:0032886	biolink:NamedThing	regulation of microtubule-based process	Any process that modulates the frequency, rate or extent of any cellular process that depends upon or alters the microtubule cytoskeleton.		mondo.json		http://purl.obolibrary.org/obo/GO_0032886		
MONDO:0020379	biolink:Disease	early-onset zonular cataract		Orphanet:98995|UMLS:CN207251|GARD:0001898|OMIM:116800|MESH:C535342	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020379	UMLS:CN207251|Orphanet:98995	gard_rare|ordo_clinical_subtype
RO:0002264	biolink:NamedThing	acts upstream of or within	c acts upstream of or within p if c is enables f, and f is causally upstream of or within p. c is a material entity and p is an process.		mondo.json	affects	http://purl.obolibrary.org/obo/RO_0002264		
MONDO:0020378	biolink:Disease	early-onset posterior polar cataract		Orphanet:98993	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020378	Orphanet:98993	ordo_clinical_subtype
MONDO:0020377	biolink:Disease	early-onset partial cataract		Orphanet:98992|UMLS:CN207248	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020377	Orphanet:98992|UMLS:CN207248	ordo_clinical_subtype
MONDO:0020376	biolink:Disease	early-onset nuclear cataract		UMLS:CN207247|Orphanet:98991|MedDRA:10057735|OMIM:611391|MedDRA:10007759|MESH:C563333	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020376	http://identifiers.org/mesh/C563333|UMLS:CN207247|Orphanet:98991	ordo_clinical_subtype
MONDO:0020375	biolink:Disease	coralliform cataract		UMLS:CN207246|Orphanet:98990	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020375	UMLS:CN207246|Orphanet:98990	ordo_clinical_subtype
MONDO:0020374	biolink:Disease	cerulean cataract	Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens.	SCTID:204138006|Orphanet:98989|GARD:0009508|MESH:C537955|ICD9:743.39	mondo.json	cataract, congenital, blue dot type 1|cataract, congenital, cerulean type 1|blue-dot cataract	http://purl.obolibrary.org/obo/MONDO_0020374	http://identifiers.org/snomedct/204138006|Orphanet:98989|http://identifiers.org/mesh/C537955	ordo_clinical_subtype
HGNC:29079	biolink:NamedThing	KDM1A			mondo.json		http://identifiers.org/hgnc/29079		
MONDO:0020373	biolink:Disease	early-onset anterior polar cataract		GARD:0001140|Orphanet:98988|UMLS:C1855179	mondo.json	cataract anterior polar|early-onset anterior subcapsular cataract	http://purl.obolibrary.org/obo/MONDO_0020373	UMLS:C1855179|Orphanet:98988	ordo_clinical_subtype
MONDO:0020372	biolink:Disease	early-onset sutural cataract		Orphanet:98985	mondo.json	early-onset cataract with Y-shaped suture opacities	http://purl.obolibrary.org/obo/MONDO_0020372	Orphanet:98985	ordo_clinical_subtype
RO:0002263	biolink:NamedThing	acts upstream of	c acts upstream of p if and only if c enables some f that is involved in p' and p' occurs chronologically before p, is not part of p, and affects the execution of p. c is a material entity and f, p, p' are processes.		mondo.json		http://purl.obolibrary.org/obo/RO_0002263		
HGNC:29077	biolink:NamedThing	IFT140			mondo.json		http://identifiers.org/hgnc/29077		
PATO:0000033	biolink:NamedThing	concentration of	A quality inhering in a substance by virtue of the amount of the bearer's there is mixed with another substance.		mondo.json	concentration	http://purl.obolibrary.org/obo/PATO_0000033		
RO:0002257	biolink:NamedThing	developmentally induces	Inverse of developmentally induced by		mondo.json		http://purl.obolibrary.org/obo/RO_0002257		
RO:0002258	biolink:NamedThing	developmentally preceded by	Candidate definition: x developmentally related to y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p		mondo.json		http://purl.obolibrary.org/obo/RO_0002258		
MONDO:0020369	biolink:Disease	Chandler syndrome	Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome, is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy.	MedDRA:10057487|DOID:11554|SCTID:416960004|Orphanet:98979|ICD9:371.57|UMLS:C0544008|GARD:0006033	mondo.json	Chandler's syndrome|posterior membrane corneal dystrophy|dystrophy of corneal endothelium|endothelial corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0020369	Orphanet:98979|DOID:11554|UMLS:C0544008	ordo_clinical_subtype
GO:0032885	biolink:NamedThing	regulation of polysaccharide biosynthetic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of polysaccharides.		mondo.json		http://purl.obolibrary.org/obo/GO_0032885		
MONDO:0019389	biolink:Disease	obsolete X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome		Orphanet:83648|UMLS:CN227624	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019389	Orphanet:83648|UMLS:CN227624	
GO:0030221	biolink:NamedThing	basophil differentiation	The process in which a relatively unspecialized myeloid precursor cell acquires specialized features of a basophil cell.		mondo.json	basophil cell differentiation	http://purl.obolibrary.org/obo/GO_0030221		
MONDO:0019386	biolink:Disease	progressive rubella panencephalitis	A neurological disorder arising from primary rubella infection of the brain, characterized by chronic encephalitis. It is believed to be due to a persistence or reactivation of rubella virus infection. It usually manifesting between 8–19 years of age.	ICD10EXP:B06.0+|SCTID:10082001|Orphanet:83616|Wikipedia:Progressive_rubella_panencephalitis|ICD10EXP:G05.1*|UMLS:C1305924	mondo.json	rubella panencephalitis	http://purl.obolibrary.org/obo/MONDO_0019386	Orphanet:83616|http://identifiers.org/snomedct/10082001|UMLS:C1305924	ordo_disease
GO:0032881	biolink:NamedThing	regulation of polysaccharide metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving polysaccharides.		mondo.json		http://purl.obolibrary.org/obo/GO_0032881		
MONDO:0019385	biolink:Disease	steroid-responsive encephalopathy associated with autoimmune thyroiditis		MESH:C535841|UMLS:C0393639|Orphanet:83601|GARD:0008570	mondo.json	Hashimoto encephalitis|SREAT|steroid-responsive encephalopathy associated with thyroid disease|Hashimoto's encephalopathy|Hashimoto's encephalitis	http://purl.obolibrary.org/obo/MONDO_0019385	Orphanet:83601|http://identifiers.org/mesh/C535841|UMLS:C0393639	ordo_disease
GO:0032880	biolink:NamedThing	regulation of protein localization	Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location.		mondo.json	regulation of cellular protein localization|regulation of protein localisation|regulation of cellular protein localisation	http://purl.obolibrary.org/obo/GO_0032880		
MONDO:0019388	biolink:Disease	pelvis syndrome	PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.	UMLS:C4510867|Orphanet:83628|SCTID:725138002|UMLS:CN206083	mondo.json	Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome|SACRAL syndrome|perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus syndrome|urorectal septum malformation sequence|LUMBAR syndrome	http://purl.obolibrary.org/obo/MONDO_0019388	http://identifiers.org/snomedct/725138002|UMLS:CN206083|Orphanet:83628|UMLS:C4510867	ordo_malformation_syndrome
MONDO:0019387	biolink:Disease	macrostomia-preauricular tags-external ophthalmoplegia syndrome	Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant.	UMLS:CN206081|Orphanet:83619	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019387	UMLS:CN206081|Orphanet:83619	ordo_malformation_syndrome
HGNC:17063	biolink:NamedThing	RAB3GAP1			mondo.json		http://identifiers.org/hgnc/17063		
GO:0030219	biolink:NamedThing	megakaryocyte differentiation	The process in which a myeloid precursor cell acquires specializes features of a megakaryocyte.		mondo.json	megakaryocyte cell differentiation	http://purl.obolibrary.org/obo/GO_0030219		
GO:0030217	biolink:NamedThing	T cell differentiation	The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex.		mondo.json	T cell development|T-cell differentiation|T lymphocyte differentiation|T-lymphocyte differentiation	http://purl.obolibrary.org/obo/GO_0030217		
GO:0030218	biolink:NamedThing	erythrocyte differentiation	The process in which a myeloid precursor cell acquires specializes features of an erythrocyte.		mondo.json	erythropoiesis|erythrocyte cell differentiation|red blood cell differentiation|RBC differentiation	http://purl.obolibrary.org/obo/GO_0030218		
GO:0032879	biolink:NamedThing	regulation of localization	Any process that modulates the frequency, rate or extent of any process in which a cell, a substance, or a cellular entity is transported to, or maintained in, a specific location.		mondo.json	regulation of localisation	http://purl.obolibrary.org/obo/GO_0032879		
GO:0030216	biolink:NamedThing	keratinocyte differentiation	The process in which a relatively unspecialized cell acquires specialized features of a keratinocyte.		mondo.json	keratinocyte cell differentiation	http://purl.obolibrary.org/obo/GO_0030216		
MONDO:0044335	biolink:Disease	benign soft tissue neoplasm	A non-metastasizing neoplasm that arises from the soft tissue.	UMLS:C0334450|ICDO:8800/0|SCTID:92069005|NCIT:C4242	mondo.json	benign neoplasm of the soft tissue|benign neoplasm of soft tissue|benign tumor of the soft tissue|benign soft tissue tumor|benign tumor of soft tissue|soft tissue neoplasm, benign|benign soft tissue neoplasm	http://purl.obolibrary.org/obo/MONDO_0044335	http://identifiers.org/snomedct/92069005|NCIT:C4242|UMLS:C0334450	
MONDO:0044334	biolink:Disease	connective and soft tissue neoplasm	A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue.	NCIT:C3810	mondo.json	connective and soft tissue neoplasm|soft tissue and bone neoplasm|tumor of soft tissue and skeleton|tumor of skeletal and soft tissue|neoplasm of soft tissue and bone|soft tissue and bone tumor|connective and soft tissue tumor|skeletal and soft tissue neoplasm|musculoskeletal and soft tissue neoplasm|neoplasm of skeletal and soft tissue|neoplasm of soft tissue and skeleton|skeletal and soft tissue tumor|tumor of soft tissue and bone|musculoskeletal and soft tissue tumor	http://purl.obolibrary.org/obo/MONDO_0044334	NCIT:C3810	
RO:0002254	biolink:NamedThing	has developmental contribution from	x has developmental contribution from y iff x has some part z such that z develops from y		mondo.json		http://purl.obolibrary.org/obo/RO_0002254		
MONDO:0044337	biolink:Disease	stromal sarcoma	A malignant neoplasm characterized by the presence of atypical mesenchymal-stromal cells. Representative examples include endometrial stromal sarcoma and prostate stromal sarcoma.	ICDO:8935/3|UMLS:C1370723|NCIT:C6926	mondo.json	stromal sarcoma, malignant|stromal tumor, malignant|stromal sarcoma	http://purl.obolibrary.org/obo/MONDO_0044337	UMLS:C1370723|NCIT:C6926	
RO:0002255	biolink:NamedThing	developmentally contributes to	inverse of has developmental contribution from		mondo.json		http://purl.obolibrary.org/obo/RO_0002255		
MONDO:0044336	biolink:Disease	colorectal signet ring cell carcinoma	An invasive colorectal adenocarcinoma characterized by the presence of malignant glandular epithelial cells with prominent intracytoplasmic mucin resulting in the displacement of the nuclei. The malignant glandular cells with intracytoplasmic mucin constitute more than 50% of the malignant cellular infiltrate.	UMLS:C1707440|NCIT:C43586	mondo.json	colorectal signet Ring cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0044336	NCIT:C43586|UMLS:C1707440	
RO:0002256	biolink:NamedThing	developmentally induced by	t1 induced_by t2 if there is a process of developmental induction (GO:0031128) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor anatomical structure type T to T', where T' develops_from T		mondo.json		http://purl.obolibrary.org/obo/RO_0002256		
MONDO:0044331	biolink:Disease	obsolete genetic transient congenital hypothyroidism	OBSOLETE. An instance of transient congenital hypothyroidism that is caused by an inherited modification of the individual's genome.	Orphanet:226316	mondo.json	hereditary transient congenital hypothyroidism	http://purl.obolibrary.org/obo/MONDO_0044331	Orphanet:226316	
MONDO:0044330	biolink:Disease	hyperekplexia 4	Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400).	DOID:0080581|UMLS:CN248518|OMIM:618011	mondo.json	HKPX4|hyperekplexia 4	http://purl.obolibrary.org/obo/MONDO_0044330	UMLS:CN248518|https://omim.org/entry/618011|DOID:0080581	
MONDO:0044333	biolink:Disease	alcohol-induced Wernicke-Korsakoff's syndrome	A syndrome which occurs in individuals with a history of alcohol abuse. It is caused by prolonged alcohol-induced neurological damage and malnutrition including vitamin and electrolyte deficiencies. Clinical signs include altered mental status, visual impairment and decreased muscle coordination. The clinical course varies and is, in part, dependent upon the severity of symptoms at presentation. The prognosis is poor and worsens if alcohol abuse continues.	NCIT:C34366	mondo.json	alcohol-induced Wernicke-Korsakoff's syndrome|alcohol-induced amnestic syndrome|alcoholic Korsakoff's psychosis	http://purl.obolibrary.org/obo/MONDO_0044333	NCIT:C34366	
MONDO:0044332	biolink:Disease	childhood-onset benign chorea with striatal involvement		Orphanet:494541	mondo.json		http://purl.obolibrary.org/obo/MONDO_0044332	Orphanet:494541	ordo_disease
HGNC:29043	biolink:NamedThing	DSTYK			mondo.json		http://identifiers.org/hgnc/29043		
MONDO:0044328	biolink:Disease	short-rib thoracic dysplasia 20 with polydactyly	Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330).	OMIM:617925|UMLS:CN902090	mondo.json	short-rib thoracic dysplasia 20 with polydactyly|SRTD20	http://purl.obolibrary.org/obo/MONDO_0044328	https://omim.org/entry/617925|UMLS:CN902090	
MONDO:0044327	biolink:Disease	polycystic liver disease 4 with or without kidney cysts	An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure.	OMIM:617875|UMLS:CN818987	mondo.json	PCLD4|polycystic liver disease 4 with or without kidney cysts	http://purl.obolibrary.org/obo/MONDO_0044327	https://omim.org/entry/617875|UMLS:CN818987	
MONDO:0044329	biolink:Disease	osteogenesis imperfecta, type 18	Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018}).	UMLS:CN244563|OMIM:617952	mondo.json	osteogenesis imperfecta, type XVIII|OI18	http://purl.obolibrary.org/obo/MONDO_0044329	https://omim.org/entry/617952|UMLS:CN244563	
HGNC:29040	biolink:NamedThing	SZT2			mondo.json		http://identifiers.org/hgnc/29040		
GO:0019899	biolink:NamedThing	enzyme binding	Binding to an enzyme, a protein with catalytic activity.		mondo.json		http://purl.obolibrary.org/obo/GO_0019899		
GO:0030212	biolink:NamedThing	hyaluronan metabolic process	The chemical reactions and pathways involving hyaluronan, the naturally occurring anionic form of hyaluronic acid, any member of a group of glycosaminoglycans, the repeat units of which consist of beta-1,4 linked D-glucuronyl-beta-(1,3)-N-acetyl-D-glucosamine.		mondo.json	hyaluronan metabolism	http://purl.obolibrary.org/obo/GO_0030212		
GO:0030210	biolink:NamedThing	heparin biosynthetic process	The chemical reactions and pathways resulting in the formation of heparin, any member of a group of glycosaminoglycans of average Mr (6000-20000), consisting predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues.		mondo.json	heparin anabolism|heparan sulfate biosynthetic process|heparin synthesis|heparin formation|heparin biosynthesis	http://purl.obolibrary.org/obo/GO_0030210		
GO:0032870	biolink:NamedThing	cellular response to hormone stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0032870		
HGNC:17068	biolink:NamedThing	PALLD			mondo.json		http://identifiers.org/hgnc/17068		
HGNC:17073	biolink:NamedThing	ARHGAP26			mondo.json		http://identifiers.org/hgnc/17073		
GO:0032869	biolink:NamedThing	cellular response to insulin stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms.		mondo.json		http://purl.obolibrary.org/obo/GO_0032869		
GO:0032868	biolink:NamedThing	response to insulin	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms.		mondo.json	response to insulin stimulus	http://purl.obolibrary.org/obo/GO_0032868		
HGNC:17075	biolink:NamedThing	TAB2			mondo.json		http://identifiers.org/hgnc/17075		
GO:0030202	biolink:NamedThing	heparin metabolic process	The chemical reactions and pathways involving heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells. They are similar to heparan sulfates but are of somewhat higher average Mr (6000-20000) and contain fewer N-acetyl groups and more N-sulfate and O-sulfate groups; they may be attached in the same manner to protein, forming proteoglycans. They consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues.		mondo.json	heparin metabolism|heparan sulfate metabolic process	http://purl.obolibrary.org/obo/GO_0030202		
GO:0030203	biolink:NamedThing	glycosaminoglycan metabolic process	The chemical reactions and pathways involving glycosaminoglycans, any of a group of polysaccharides that contain amino sugars.		mondo.json	glycosaminoglycan metabolism	http://purl.obolibrary.org/obo/GO_0030203		
MONDO:0044346	biolink:Disease	echinococcus granulosus infectious disease	An disease or disorder caused by infection with Echinococcus granulosus.	SCTID:75006000|ICD9:122.3|UMLS:C0152068|ICD9:122.4	mondo.json	Echinococcus granulosus caused disease or disorder|echinococcus granulosus infection|unilocular hydatid disease|Echinococcus granulosus disease or disorder|echinococcus granulosus infectious disease|Echinococcus granulosus infectious disease	http://purl.obolibrary.org/obo/MONDO_0044346	UMLS:C0152068|http://identifiers.org/snomedct/75006000	
MONDO:0044345	biolink:Disease	Schistosoma mansoni infectious disease	An infection that is caused by Schistosoma mansoni.	SCTID:750009|MESH:D012555|NCIT:C35002	mondo.json	Schistosoma mansoni infection|Schistosoma mansoni disease or disorder|Schistosoma mansoni caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0044345	NCIT:C35002|http://identifiers.org/snomedct/750009|http://identifiers.org/mesh/D012555	
MONDO:0044348	biolink:Disease	hemoglobinopathy		ICD9:282.7|SCTID:80141007	mondo.json	globin abnormality|hemoglobin disease|hemoglobinopathy|hemoglobin disorder	http://purl.obolibrary.org/obo/MONDO_0044348	http://identifiers.org/snomedct/80141007	
RO:0002244	biolink:NamedThing	related via exposure to	Any relationship between an exposure event or process and any other entity.		mondo.json		http://purl.obolibrary.org/obo/RO_0002244		
MONDO:0044347	biolink:Disease	erythrocyte disorder	A disease or disorder that involves the erythrocyte.	SCTID:38292009|UMLS:C0221016|ICD9:289.9	mondo.json	erythrocyte disease or disorder|red blood cell disorder|disease of erythrocyte|disorder of erythrocyte|red blood cell disease|disease or disorder of erythrocyte|erythrocyte disease	http://purl.obolibrary.org/obo/MONDO_0044347	UMLS:C0221016|http://identifiers.org/snomedct/38292009	
GO:0005262	biolink:NamedThing	calcium channel activity	Enables the facilitated diffusion of a calcium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism.		mondo.json		http://purl.obolibrary.org/obo/GO_0005262		
MONDO:0044342	biolink:Disease	thoracic disc degenerative disorder	Any degenerative disorder affecting one or more vertebral discs of the thoracic spine.	SCTID:68675004|UMLS:C0263872|NCIT:C27155	mondo.json	thoracic region of vertebral column intervertebral disc degenerative disorder|thoracic Disc degenerative disorder|degeneration of thoracic intervertebral disc|thoracic Disc Degeneration|thoracic Disc degenerative disease|intervertebral disc degenerative disorder of thoracic region of vertebral column	http://purl.obolibrary.org/obo/MONDO_0044342	UMLS:C0263872|http://identifiers.org/snomedct/68675004|NCIT:C27155	
MONDO:0044344	biolink:Disease	Schistosoma japonicum infectious disease	An infection that is caused by Schistosoma japonicum.	SCTID:268058007|MESH:D012554|NCIT:C35001	mondo.json	Katayama disease|Schistosoma japonicum infection|Asiatic schistosomiasis|Schistosoma japonicum disease or disorder|schistosomiasis japonicum|Katamaya fever|Katamaya syndrome|Schistosoma japonicum caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0044344	http://identifiers.org/snomedct/268058007|NCIT:C35001|http://identifiers.org/mesh/D012554	
CHEBI:149552	biolink:ChemicalSubstance	emetic	Any agent that induces nausea and vomiting.		mondo.json	emetics	http://purl.obolibrary.org/obo/CHEBI_149552		
GO:0005261	biolink:NamedThing	cation channel activity	Enables the energy-independent passage of cations across a lipid bilayer down a concentration gradient.		mondo.json	non-selective cation channel activity|cation diffusion facilitator activity	http://purl.obolibrary.org/obo/GO_0005261		
MONDO:0044343	biolink:Disease	cervical disc degenerative disorder	Any degenerative disorder affecting one or more vertebral discs of the cervical spine.	UMLS:C0158262|UMLS:C0410606|NCIT:C27156|SCTID:69195002	mondo.json	cervical Disc degenerative disease|intervertebral disc degenerative disorder of cervical region of vertebral column|cervical region of vertebral column intervertebral disc degenerative disorder|degeneration of cervical intervertebral disc|cervical Disc degenerative disorder|cervical Disc Degeneration	http://purl.obolibrary.org/obo/MONDO_0044343	http://identifiers.org/snomedct/69195002|UMLS:C0158262|UMLS:C0410606|NCIT:C27156	
HGNC:29059	biolink:NamedThing	IQSEC2			mondo.json		http://identifiers.org/hgnc/29059		
MONDO:0044339	biolink:Disease	lumbar disc degenerative disorder	Any degenerative disorder affecting one or more vertebral discs of the lumbar spine.	MESH:C535531|EFO:0004994|NCIT:C27154|SCTID:26538006|OMIM:603932	mondo.json	lumbar disc degeneration, susceptibility to|lumbar Disc degenerative disease|intervertebral DISC disease|IDD|lumbar Disc degenerative disorder|intervertebral disc disease, susceptibility to|lumbar region of vertebral column intervertebral disc degenerative disorder|degenerative disc disease|lumbar disc disease, susceptibility to|lumbar disc disease|degenerative disc disorder|lumbar Disc Degeneration|intervertebral disc degenerative disorder of lumbar region of vertebral column|lumbar disc herniation, susceptibility to|degeneration of lumbar intervertebral disc|intervertebral disc disease	http://purl.obolibrary.org/obo/MONDO_0044339	http://identifiers.org/mesh/C535531|NCIT:C27154|https://omim.org/entry/603932|http://identifiers.org/snomedct/26538006	
MONDO:0044338	biolink:Disease	autoimmune primary ovarian failure	An autoimmune form of primary ovarian failure.	UMLS:C0342508|ICD9:256.39|ICD9:279.49|SCTID:237790001	mondo.json	primary ovarian failure arising through autoimmunity	http://purl.obolibrary.org/obo/MONDO_0044338	UMLS:C0342508|http://identifiers.org/snomedct/237790001	
HGNC:32698	biolink:NamedThing	DUOXA2			mondo.json		http://identifiers.org/hgnc/32698		
HGNC:30035	biolink:NamedThing	PIK3R5			mondo.json		http://identifiers.org/hgnc/30035		
HGNC:30032	biolink:NamedThing	PACS1			mondo.json		http://identifiers.org/hgnc/30032		
MONDO:0044351	biolink:Disease	Schistosoma intercalatum infectious disease	An disease or disorder caused by infection with Schistosoma intercalatum.	UMLS:C0276932|SCTID:52179003|NCIT:C35364|ICD9:120.8	mondo.json	Schistosoma intercalatum disease or disorder|infection by Schistosoma intercalatum|Schistosoma intercalatum caused disease or disorder|infection caused by Schistosoma intercalatum	http://purl.obolibrary.org/obo/MONDO_0044351	NCIT:C35364|http://identifiers.org/snomedct/52179003|UMLS:C0276932	
HGNC:17043	biolink:NamedThing	NIPA1			mondo.json		http://identifiers.org/hgnc/17043		
MONDO:0044350	biolink:Disease	hyperparathyroidism, primary, caused by water clear cell hyperplasia		MESH:C563982|OMIM:600166	mondo.json	hyperparathyroidism, primary, caused by water clear cell hyperplasia	http://purl.obolibrary.org/obo/MONDO_0044350	http://identifiers.org/mesh/C563982|https://omim.org/entry/600166	
HGNC:17042	biolink:NamedThing	PUF60			mondo.json		http://identifiers.org/hgnc/17042		
RO:0002233	biolink:NamedThing	has input	p has input c iff: p is a process, c is a material entity, c is a participant in p, c is present at the start of p, and the state of c is modified during p.		mondo.json		http://purl.obolibrary.org/obo/RO_0002233		
GO:0005231	biolink:NamedThing	excitatory extracellular ligand-gated ion channel activity	Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts, where channel opening contributes to an increase in membrane potential.		mondo.json		http://purl.obolibrary.org/obo/GO_0005231		
RO:0002234	biolink:NamedThing	has output	p has output c iff c is a participant in p, c is present at the end of p, and c is not present in the same state at the beginning of p.		mondo.json		http://purl.obolibrary.org/obo/RO_0002234		
GO:0005230	biolink:NamedThing	extracellular ligand-gated ion channel activity	Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts.		mondo.json		http://purl.obolibrary.org/obo/GO_0005230		
MONDO:0044355	biolink:Disease	isolated sternocostoclavicular hyperostosis	Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases.	SCTID:766711009|UMLS:C0020499|Orphanet:178311	mondo.json	isolated SCCH	http://purl.obolibrary.org/obo/MONDO_0044355	UMLS:C0020499|http://identifiers.org/snomedct/766711009|Orphanet:178311	ordo_disease
HGNC:20692	biolink:NamedThing	TPH2			mondo.json		http://identifiers.org/hgnc/20692		
RO:0002230	biolink:NamedThing	ends with	x ends with y if and only if x has part y and the time point at which x ends is equivalent to the time point at which y ends. Formally: α(y) > α(x) ∧ ω(y) = ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.		mondo.json		http://purl.obolibrary.org/obo/RO_0002230		
MONDO:0044354	biolink:Disease	obsolete Rosai-Dorfman disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0044354		
RO:0002229	biolink:NamedThing	ends	Relation between occurrents, shares an end boundary with.		mondo.json	finishes	http://purl.obolibrary.org/obo/RO_0002229		
HGNC:29021	biolink:NamedThing	CEP290			mondo.json		http://identifiers.org/hgnc/29021		
HGNC:29022	biolink:NamedThing	SPECC1L			mondo.json		http://identifiers.org/hgnc/29022		
RO:0002224	biolink:NamedThing	starts with	x starts with y if and only if x has part y and the time point at which x starts is equivalent to the time point at which y starts. Formally: α(y) = α(x) ∧ ω(y) < ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.		mondo.json		http://purl.obolibrary.org/obo/RO_0002224		
MONDO:0044349	biolink:Disease	acquired hemoglobinopathy	An instance of hemoglobinopathy that is acquired during the lifetime of the individual.	UMLS:C1263995|SCTID:127039000	mondo.json	acquired hemoglobinopathy	http://purl.obolibrary.org/obo/MONDO_0044349	UMLS:C1263995|http://identifiers.org/snomedct/127039000	
RO:0002225	biolink:NamedThing	develops from part of	x develops from part of y if and only if there exists some z such that x develops from z and z is part of y		mondo.json		http://purl.obolibrary.org/obo/RO_0002225		
RO:0002226	biolink:NamedThing	develops in	x develops_in y if x is located in y whilst x is developing		mondo.json		http://purl.obolibrary.org/obo/RO_0002226		
HGNC:32689	biolink:NamedThing	SLFN14			mondo.json		http://identifiers.org/hgnc/32689		
HGNC:32685	biolink:NamedThing	ARMS2			mondo.json		http://identifiers.org/hgnc/32685		
HGNC:30022	biolink:NamedThing	PPARGC1B			mondo.json		http://identifiers.org/hgnc/30022		
GO:0005246	biolink:NamedThing	calcium channel regulator activity	Modulates the activity of a calcium channel.		mondo.json		http://purl.obolibrary.org/obo/GO_0005246		
GO:0005244	biolink:NamedThing	voltage-gated ion channel activity	Enables the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.		mondo.json	voltage-dependent ion channel activity|voltage gated ion channel activity	http://purl.obolibrary.org/obo/GO_0005244		
RO:0002220	biolink:NamedThing	adjacent to	x adjacent to y if and only if x and y share a boundary.		mondo.json		http://purl.obolibrary.org/obo/RO_0002220		
RO:0002221	biolink:NamedThing	surrounds	inverse of surrounded by		mondo.json		http://purl.obolibrary.org/obo/RO_0002221		
RO:0002222	biolink:NamedThing	temporally related to			mondo.json		http://purl.obolibrary.org/obo/RO_0002222		
RO:0002223	biolink:NamedThing	starts	inverse of starts with		mondo.json		http://purl.obolibrary.org/obo/RO_0002223		
NCBITaxon:260964	biolink:OrganismalEntity	Henipavirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_260964		
GO:0005243	biolink:NamedThing	gap junction channel activity	A wide pore channel activity that enables a direct cytoplasmic connection from one cell to an adjacent cell. The gap junction can pass large solutes as well as electrical signals between cells. Gap junctions consist of two gap junction hemi-channels, or connexons, one contributed by each membrane through which the gap junction passes.		mondo.json	innexin|connexin|intercellular channel|innexin channel activity	http://purl.obolibrary.org/obo/GO_0005243		
NCBITaxon:260963	biolink:OrganismalEntity	Avulavirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_260963		
RO:0002218	biolink:NamedThing	obsolete has active participant	OBSOLETE x has participant y if and only if x realizes some active role that inheres in y		mondo.json		http://purl.obolibrary.org/obo/RO_0002218		
RO:0002219	biolink:NamedThing	surrounded by	x surrounded_by y if and only if (1) x is adjacent to y and for every region r that is adjacent to x, r overlaps y (2) the shared boundary between x and y occupies the majority of the outermost boundary of x		mondo.json		http://purl.obolibrary.org/obo/RO_0002219		
GO:0019889	biolink:NamedThing	pteridine metabolic process	The chemical reactions and pathways involving pteridine, pyrazino(2,3-dipyrimidine), the parent structure of pterins and the pteroyl group.		mondo.json	pteridine metabolism	http://purl.obolibrary.org/obo/GO_0019889		
RO:0002213	biolink:NamedThing	positively regulates	Process(P1) postively regulates process(P2) iff: P1 initiates P2, or P1 increases the the frequency of initiation of P2 or the magnitude or rate of output of P2.		mondo.json		http://purl.obolibrary.org/obo/RO_0002213		
RO:0002215	biolink:NamedThing	capable_of	A relation between a material entity (such as a cell) and a process, in which the material entity has the ability to carry out the process. 		mondo.json		http://purl.obolibrary.org/obo/RO_0002215		
GO:0019887	biolink:NamedThing	protein kinase regulator activity	Modulates the activity of a protein kinase, an enzyme which phosphorylates a protein.		mondo.json		http://purl.obolibrary.org/obo/GO_0019887		
RO:0002216	biolink:NamedThing	capable of part of	c stands in this relationship to p if and only if there exists some p' such that c is capable_of p', and p' is part_of p.		mondo.json		http://purl.obolibrary.org/obo/RO_0002216		
GO:0019882	biolink:NamedThing	antigen processing and presentation	The process in which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex.		mondo.json	antigen processing|antigen presentation	http://purl.obolibrary.org/obo/GO_0019882		
HGNC:17057	biolink:NamedThing	CARD8			mondo.json		http://identifiers.org/hgnc/17057		
HP:0100886	biolink:PhenotypicFeature	Abnormality of globe location	An abnormality in the placement of the ocular globe (eyeball).	UMLS:C4021946	mondo.json	Abnormality of globe position|Abnormality of eyeball position|Abnormality of eyeball location	http://purl.obolibrary.org/obo/HP_0100886		
HP:0100887	biolink:PhenotypicFeature	Abnormality of globe size	An abnormality in the size of the ocular globe (eyeball).	UMLS:C4021945	mondo.json	Abnormality of eyeball size|Eye size difference	http://purl.obolibrary.org/obo/HP_0100887		
HGNC:20672	biolink:NamedThing	PHF8			mondo.json		http://identifiers.org/hgnc/20672		
MONDO:0022981	biolink:Disease	die Smulders droog van dijk syndrome		GARD:0001857	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022981		gard_rare
HGNC:17020	biolink:NamedThing	IRAK3			mondo.json		http://identifiers.org/hgnc/17020		
MONDO:0022982	biolink:Disease	die Smulders Vles Fryns syndrome		GARD:0001858	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022982		gard_rare
MONDO:0022983	biolink:Disease	Dieterich disease		GARD:0000204|UMLS:C2931124|MESH:C536172	mondo.json	Dieterich disease|avascular necrosis of the metacarpal head|Dieterich's disease	http://purl.obolibrary.org/obo/MONDO_0022983	http://identifiers.org/mesh/C536172|UMLS:C2931124	gard_rare
MONDO:0034968	biolink:Disease	obsolete rare ocular motility/alignment disorder		Orphanet:519355	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034968	Orphanet:519355	
MONDO:0007348	biolink:Disease	obsolete colchicine resistance		UMLS:C1861502|OMIM:120080	mondo.json	colchicine sensitivity|colchicine resistance	http://purl.obolibrary.org/obo/MONDO_0007348	UMLS:C1861502|https://omim.org/entry/120080	
MONDO:0022985	biolink:Disease	diffuse cavernous hemangioma of the rectum		GARD:0010750	mondo.json	cavernous haemangioma of the rectum	http://purl.obolibrary.org/obo/MONDO_0022985		gard_rare
NCBITaxon:42408	biolink:OrganismalEntity	Neotoma albigula		GC_ID:1	mondo.json	white-throated woodrat	http://purl.obolibrary.org/obo/NCBITaxon_42408		
MONDO:0007349	biolink:Disease	familial cold autoinflammatory syndrome 1	Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene.	DOID:0090062|OMIM:120100|SCTID:238687000	mondo.json	familial cold inflammatory syndrome 1|familial cold autoinflammatory syndrome caused by mutation in NLRP3|familial cold autoinflammatory syndrome type 1|cold urticaria, familial|Cryopyrin-associated periodic syndrome 1|cold hypersensitivity|Fcas|cold-induced autoinflammatory syndrome, familial|familial cold autoinflammatory syndrome 1|NLRP3 familial cold autoinflammatory syndrome|FCAS1	http://purl.obolibrary.org/obo/MONDO_0007349	http://identifiers.org/snomedct/238687000|https://omim.org/entry/120100|DOID:0090062	
MONDO:0022986	biolink:Disease	diffuse idiopathic pulmonary neuroendocrine cell hyperplasia	A very rare condition characterized by generalized proliferation of pulmonary neuroendocrine cells. It manifests as progressive cough and dyspnea. It is considered a precursor for pulmonary carcinoid tumor.	NCIT:C7437|UMLS:C1333291|GARD:0010780	mondo.json	diffuse idiopathic pulmonary neuroendocrine cell hyperplasia|DIPNECH|DIP-NECH	http://purl.obolibrary.org/obo/MONDO_0022986	NCIT:C7437|UMLS:C1333291	gard_rare
NCBITaxon:42407	biolink:OrganismalEntity	Neotoma		GC_ID:1	mondo.json	trade rats|pack rats|wood rats	http://purl.obolibrary.org/obo/NCBITaxon_42407		
MONDO:0020324	biolink:Disease	intravascular large B-cell lymphoma	Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis.	NCIT:C4342|ICDO:9712/3|ICD9:202.80|SCTID:255102004|MedDRA:10069643|UMLS:CN207146|ONCOTREE:IVBCL|Orphanet:98839	mondo.json	Tappeiner-Pfleger disease|angiotropic large cell lymphoma|angioendotheliomatosis proliferans systemisata|malignant angioendotheliomatosis|IVBCL|intravascular lymphomatosis|angiotropic lymphoma|intravascular B-cell lymphoma|intravascular large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0020324	UMLS:CN207146|Orphanet:98839|NCIT:C4342|http://identifiers.org/snomedct/255102004	ordo_disease
MONDO:0007346	biolink:Disease	cochleosaccular degeneration-cataract syndrome	Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.	MESH:C536432|Orphanet:3233|SCTID:715528001|OMIM:120040|UMLS:C1861512|GARD:0009418	mondo.json	Cochleosaccular Degeneration|Cochleosaccular degeneration of the inner ear and progressive cataracts|COCHLEOSACCULAR degeneration with progressive cataracts|Cochleosaccular Degeneration of the inner Ear with progressive cataracts	http://purl.obolibrary.org/obo/MONDO_0007346	Orphanet:3233|http://identifiers.org/snomedct/715528001|UMLS:C1861512|https://omim.org/entry/120040|http://identifiers.org/mesh/C536432	gard_rare|ordo_malformation_syndrome
MONDO:0010998	biolink:Disease	ALG3-congenital disorder of glycosylation	A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3).	SCTID:720976009|DOID:0080556|UMLS:C1832736|GARD:0009827|NCIT:C126870|MESH:C535742|OMIM:601110|Orphanet:79321	mondo.json	CDG1D|CDG 1D|CDGS4 (formerly)|carbohydrate-deficient glycoprotein syndrome type IV (formerly)|CDG Id|CDG syndrome type Id|CDGS, type IV, formerly|ALG3-congenital disorder of glycosylation|congenital disorder of glycosylation type Id|CDGS, type IV|CDGId|mannosyltransferase 6 deficiency|congenital disorder of glycosylation, type Id|carbohydrate-deficient glycoprotein syndrome, type IV, formerly|congenital disorder of glycosylation type 1d|ALG3-CDG|carbohydrate deficient glycoprotein syndrome type Id|carbohydrate-deficient glycoprotein syndrome, type IV|CDG-Id|ALG3-CDG (CDG-Id)	http://purl.obolibrary.org/obo/MONDO_0010998	UMLS:C1832736|DOID:0080556|http://identifiers.org/snomedct/720976009|Orphanet:79321|http://identifiers.org/mesh/C535742|https://omim.org/entry/601110|NCIT:C126870	ordo_disease
RO:0002210	biolink:NamedThing	directly develops into	inverse of directly develops from		mondo.json		http://purl.obolibrary.org/obo/RO_0002210		
MONDO:0020323	biolink:Disease	primary mediastinal large B-cell lymphoma	A large B-cell non-Hodgkin lymphoma arising in the mediastinum. Morphologically it is characterized by a massive diffuse lymphocytic proliferation associated with compartmentalizing fibrosis. Response to intensive chemotherapy, with or without radiotherapy, is usually good. (WHO, 2001)	NCIT:C9280|ONCOTREE:PMBL|UMLS:C1292754|MedDRA:10036710|ICDO:9679/3|SCTID:444910004|DOID:0080210|Orphanet:98838	mondo.json	mediastinal diffuse large-cell lymphoma with sclerosis|B-cell diffuse large cell lymphoma of the mediastinum|B-cell diffuse large cell lymphoma of mediastinum|primary mediastinal B-cell lymphoma|PMLCL|PMBL|primary mediastinal clear cell lymphoma of B-cell type|large cell lymphoma of the mediastinum|mediastinal (thymic) large B-cell lymphoma|mediastinal diffuse large cell lymphoma with sclerosis|Med-DLBCL|primary mediastinal large B-cell lymphoma|mediastinal B-cell diffuse large cell lymphoma|mediastinal large B-cell lymphoma|primary mediastinal (thymic) large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0020323	DOID:0080210|NCIT:C9280|Orphanet:98838|http://identifiers.org/snomedct/444910004|UMLS:C1292754	ordo_disease
MONDO:0010997	biolink:Disease	supranuclear palsy, progressive, 1	Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia.	Orphanet:240071|OMIM:601104|UMLS:CN201679	mondo.json	classic PSP syndrome|PSNP1|Steele-Richardson-Olszewski syndrome|PSP|supranuclear palsy, progressive, type 1|supranuclear palsy, progressive|Steele-Richardson-Olszewski disease|Richardson syndrome|supranuclear palsy, progressive, 1|classic progressive supranuclear palsy syndrome	http://purl.obolibrary.org/obo/MONDO_0010997	UMLS:CN201679|Orphanet:240071|https://omim.org/entry/601104	ordo_clinical_subtype
MONDO:0007347	biolink:Disease	obsolete Coxsackievirus B3 susceptibility		OMIM:120050|UMLS:C1861511	mondo.json	Cb3S|CXB3S|Coxsackievirus B3 susceptibility	http://purl.obolibrary.org/obo/MONDO_0007347	UMLS:C1861511|https://omim.org/entry/120050	
MONDO:0020322	biolink:Disease	acute biphenotypic leukemia	An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001)	Orphanet:98837|MedDRA:10067399|DOID:9953|ICD9:207.80|EFO:1000828|UMLS:C0023464|NCIT:C4673|SCTID:278453007|ICDO:9805/3|MESH:D015456	mondo.json	B- and T-cell mixed leukemia	http://purl.obolibrary.org/obo/MONDO_0020322	http://identifiers.org/snomedct/278453007|Orphanet:98837|UMLS:C0023464|NCIT:C4673|DOID:9953|http://identifiers.org/mesh/D015456	ordo_disease
RO:0002211	biolink:NamedThing	regulates (processual)	process(P1) regulates process(P2) iff: P1 results in the initiation or termination of P2 OR affects the frequency of its initiation or termination OR affects the magnitude or rate of output of P2.		mondo.json		http://purl.obolibrary.org/obo/RO_0002211		
MONDO:0007344	biolink:Disease	cluster headache, familial	An instance of cluster headache syndrome that is caused by an inherited modification of the individual's genome.	UMLS:C1861513|OMIM:119915|MESH:C566117	mondo.json	hereditary cluster headache syndrome|cluster headache, familial	http://purl.obolibrary.org/obo/MONDO_0007344	http://identifiers.org/mesh/C566117|UMLS:C1861513|https://omim.org/entry/119915	
HGNC:29007	biolink:NamedThing	FRMPD4			mondo.json		http://identifiers.org/hgnc/29007		
MONDO:0020321	biolink:Disease	acute undifferentiated leukemia	A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage.	UMLS:C1282947|UMLS:C0856823|Orphanet:98835|ONCOTREE:AUL|UMLS:C0280141|SCTID:359631009|NCIT:C9298|MedDRA:10045516	mondo.json	stem cell acute leukemia|undifferentiated acute leukemia|acute undifferentiated leukemia|leukemia stem cell|acute myeloid leukemia, minimal differentiation, FAB M0|stem cell leukemia|AUL	http://purl.obolibrary.org/obo/MONDO_0020321	NCIT:C9298|UMLS:C0856823|Orphanet:98835|UMLS:C0280141|UMLS:C1282947|http://identifiers.org/snomedct/359631009	ordo_disease
MONDO:0010999	biolink:Disease	fallot complex-intellectual disability-growth delay syndrome	Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.	OMIM:601127|UMLS:C1832735|GARD:0000893|Orphanet:3304|SCTID:723336008|MESH:C536608	mondo.json	Bindewald-Ulmer-Müller syndrome|Bindewald Ulmer Muller syndrome|FALLOT complex with severe mental and growth retardation	http://purl.obolibrary.org/obo/MONDO_0010999	Orphanet:3304|http://identifiers.org/snomedct/723336008|UMLS:C1832735|http://identifiers.org/mesh/C536608|https://omim.org/entry/601127	ordo_malformation_syndrome
MONDO:0007345	biolink:Disease	aorta coarctation	Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps.	ICD10CM:Q25.1|Orphanet:1457|MESH:D001017|GARD:0005828|UMLS:C0003492|SCTID:7305005|OMIM:120000|MedDRA:10009807|EFO:1001267|ICD9:747.10|NCIT:C84567	mondo.json	coarctation of aorta|coarctation of the aorta|aortic coarctation	http://purl.obolibrary.org/obo/MONDO_0007345	NCIT:C84567|UMLS:C0003492|http://identifiers.org/mesh/D001017|Orphanet:1457|https://omim.org/entry/120000|http://identifiers.org/snomedct/7305005|http://purl.bioontology.org/ontology/ICD10CM/Q25.1	ordo_morphological_anomaly
RO:0002212	biolink:NamedThing	negatively regulates	Process(P1) negatively regulates process(P2) iff: P1 terminates P2, or P1 descreases the the frequency of initiation of P2 or the magnitude or rate of output of P2.		mondo.json		http://purl.obolibrary.org/obo/RO_0002212		
MONDO:0020320	biolink:Disease	acute myeloblastic leukemia with maturation	An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001)	EFO:0003028|Orphanet:98834|ONCOTREE:AM|GARD:0000527|NCIT:C3250|ICDO:9874/3	mondo.json	M2 acute myeloblastic leukemia with maturation|acute myelogenous leukemia with maturation|acute myeloblastic leukemia M2|M2 acute myeloblastic leukemia|AML with maturation|acute myeloblastic leukemia type 2|AML M2|M2 acute myeloid leukemia with maturation|M2 acute granulocytic leukemia|M2 acute myelogenous leukemia with maturation|M2 acute myeloid leukemia|AM|LAM M2|FAB M2|M2 acute myelocytic leukemia with maturation|M2 acute myelogenous leukemia|acute myeloid leukemia (AML-M2)|acute myelocytic leukemia with maturation|acute M2 myeloid leukemia|acute myeloid leukemia with maturation	http://purl.obolibrary.org/obo/MONDO_0020320	Orphanet:98834|NCIT:C3250	ordo_disease|gard_rare
MONDO:0007342	biolink:Disease	clubfoot	The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply.	OMIM:119800|MESH:D003025|SCTID:397932003|ICD9:754.51|DOID:11836|NCIT:C84641	mondo.json	talipes|equinovarus deformity of foot (finding)|clubbed foot|congenital talipes equinovarus|clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly|congenital equinovarus|equinovarus deformity of foot|CCF|club foot|talipes equinovarus|congenital clubfoot	http://purl.obolibrary.org/obo/MONDO_0007342	DOID:11836|http://identifiers.org/snomedct/397932003|http://identifiers.org/mesh/D003025|NCIT:C84641|https://omim.org/entry/119800	
MONDO:0007343	biolink:Disease	isolated congenital digital clubbing	Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.	OMIM:119900|Orphanet:217059	mondo.json	acropachy, hereditary|isolated congenital acropachy|digital clubbing, isolated congenital|isolated congenital nail clubbing|clubbing of digits	http://purl.obolibrary.org/obo/MONDO_0007343	https://omim.org/entry/119900|Orphanet:217059	ordo_morphological_anomaly
MONDO:0007340	biolink:Disease	cleidocranial dysplasia	Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems.	DOID:13994|UMLS:C0008928|Orphanet:1452|NCIT:C75020|MESH:D002973|GARD:0006118|ICD9:755.59|SCTID:65976001|OMIM:119600	mondo.json	CLCD|cleidocranial dysostosis|dysplasia cleidocranial|Marie-Sainton disease|cleidocranial dysplasia|cleidocranial dysplasia, forme fruste, dental anomalies only|CCD|cleidocranial dysplasia, forme fruste, with brachydactyly	http://purl.obolibrary.org/obo/MONDO_0007340	https://omim.org/entry/119600|http://identifiers.org/mesh/D002973|Orphanet:1452|NCIT:C75020|http://identifiers.org/snomedct/65976001|UMLS:C0008928|DOID:13994	ordo_malformation_syndrome
MONDO:0007341	biolink:Disease	cleidorhizomelic syndrome	Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.	UMLS:C1861515|SCTID:719471002|MESH:C536428|Orphanet:1453|OMIM:119650|GARD:0005532	mondo.json	Wallis-Zieff-Goldblatt syndrome|cleidorhizomelic syndrome|cleido rhizomelic syndrome|brachydactyly, enlarged diaphysis, rhizomelic micromelia, short stature and abnormal clavicle|Wallis Zieff Goldblatt syndrome|rhizomelic shortness with clavicular defect	http://purl.obolibrary.org/obo/MONDO_0007341	https://omim.org/entry/119650|UMLS:C1861515|Orphanet:1453|http://identifiers.org/mesh/C536428|http://identifiers.org/snomedct/719471002	gard_rare|ordo_malformation_syndrome
HGNC:20670	biolink:NamedThing	TWIST2			mondo.json		http://identifiers.org/hgnc/20670		
RO:0002207	biolink:NamedThing	directly develops from	Candidate definition: x directly_develops from y if and only if there exists some developmental process (GO:0032502) p such that x and y both participate in p, and x is the output of p and y is the input of p, and a substantial portion of the matter of x comes from y, and the start of x is coincident with or after the end of y.		mondo.json		http://purl.obolibrary.org/obo/RO_0002207		
MONDO:0020319	biolink:Disease	obsolete acute myeloblastic leukemia without maturation			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020319		
MONDO:0020318	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0020318		
MONDO:0019339	biolink:Disease	47,XYY syndrome	47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.	GARD:0005674|SCTID:50749006|MESH:C535317|MedDRA:10056894|Orphanet:8|NCIT:C85237	mondo.json	XYY syndrome|Double Y|XYY karyotype|47,XYY syndrome|Double Y syndrome|disomy Y|Y disomy|47,XYY|YY syndrome|47, XYY syndrome	http://purl.obolibrary.org/obo/MONDO_0019339	NCIT:C85237|Orphanet:8|http://identifiers.org/mesh/C535317|http://identifiers.org/snomedct/50749006	ordo_malformation_syndrome
MONDO:0020317	biolink:Disease	acute myeloid leukemia with 11q23 abnormalities	An acute myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation.	ICDO:9897/3|Orphanet:98831|NCIT:C82403|SCTID:444911000	mondo.json	AML with t(9;11)(p22;q23); MLLT3-MLL|acute myeloid leukemia with MLL abnormalities|acute myeloid leukemia with t(9;11)(p22;q23); MLLT3-MLL|acute myeloid leukemia with t(9;11)(p22.3;q23.3); MLLT3-KMT2A|acute myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A|acute myeloid leukemia with 11q23 (MLL) abnormalities|AML with 11q23 abnormalities	http://purl.obolibrary.org/obo/MONDO_0020317	NCIT:C82403|http://identifiers.org/snomedct/444911000|Orphanet:98831	ordo_disease
RO:0002202	biolink:NamedThing	develops_from	x develops from y if and only if either (a) x directly develops from y or (b) there exists some z such that x directly develops from z and z develops from y		mondo.json		http://purl.obolibrary.org/obo/RO_0002202		
MONDO:0019338	biolink:Disease	sarcoidosis	Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.	DOID:11335|MESH:D012507|SCTID:31541009|ICD9:135|MedDRA:10039486|UMLS:C0036202|NCIT:C34995|Orphanet:797	mondo.json	Besnier-Boeck-Schaumann disease|sarcoidosis|lupus pernio of Besnier|Darier-Roussy sarcoid|Boeck's sarcoid|lymphogranulomatosis|Boeck sarcoid|Boeck's sarcoidosis|besnier-Boeck-Schaumann syndrome|sarcoid|benign lymphogranulomatosis of Schaumann|miliary lupoid of boeck	http://purl.obolibrary.org/obo/MONDO_0019338	DOID:11335|http://identifiers.org/snomedct/31541009|http://identifiers.org/mesh/D012507|Orphanet:797|UMLS:C0036202|NCIT:C34995	ordo_disease
MONDO:0020316	biolink:Disease	acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals.AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or easy bruising or bleeding (due to thrombocytopenia). The cause of AMML is currently unknown. Treatment typically consists of chemotherapy.	Orphanet:98829|UMLS:C0023479|GARD:0000536	mondo.json	AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)|AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)|acute myelomonocytic leukemia|CBFB-MYH11	http://purl.obolibrary.org/obo/MONDO_0020316	Orphanet:98829	gard_rare|ordo_disease
RO:0002203	biolink:NamedThing	develops into	inverse of develops from		mondo.json		http://purl.obolibrary.org/obo/RO_0002203		
MONDO:0020315	biolink:Disease	obsolete unclassified myelodysplastic syndrome	OBSOLETE. Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS) with atypical features of uncertain clinical significance.	Orphanet:98827|UMLS:CN207136	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020315	Orphanet:98827|UMLS:CN207136	ordo_disease
MONDO:0020314	biolink:Disease	obsolete refractory anemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020314		
MONDO:0019335	biolink:Disease	mild hyperphenylalaninemia	Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA.	Orphanet:79651	mondo.json	non-PKU HPA|mild HPA|mHPA	http://purl.obolibrary.org/obo/MONDO_0019335	Orphanet:79651	ordo_clinical_subtype
MONDO:0034976	biolink:Disease	iatrogenic Creutzfeldt-Jakob disease		Orphanet:576379	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034976	Orphanet:576379	ordo_disease
MONDO:0022977	biolink:Disease	diaphragmatic hernia exomphalos corpus callosum agenesis		GARD:0001846	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022977		gard_rare
MONDO:0019334	biolink:Disease	autosomal recessive hyperinsulinism due to Kir6.2 deficiency		Orphanet:79644|UMLS:CN206003	mondo.json	autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency	http://purl.obolibrary.org/obo/MONDO_0019334	UMLS:CN206003|Orphanet:79644	ordo_disease
MONDO:0022978	biolink:Disease	diaphragmatic hernia upper limb defects		GARD:0001847	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022978		gard_rare
MONDO:0019337	biolink:Disease	autoimmune bullous skin disease	An autoimmune disease characterized by blisters on the skin.	ICD9:694.8|DOID:8502|ICD9:694.9|EFO:1000673|SCTID:7231009|Orphanet:79669|UMLS:CN206006	mondo.json	bullous skin disease|bullous dermatosis	http://purl.obolibrary.org/obo/MONDO_0019337	DOID:8502|http://identifiers.org/snomedct/7231009|UMLS:CN206006|Orphanet:79669	ordo_group_of_disorders|disease_grouping
HGNC:19688	biolink:NamedThing	NECTIN4			mondo.json		http://identifiers.org/hgnc/19688		
MONDO:0019336	biolink:Disease	Gardner syndrome	Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.	NCIT:C6728|Orphanet:79665|SCTID:60876000|UMLS:C0017097|MESH:D005736|GARD:0006482|ICD9:759.89|MedDRA:10017727|OMIM:175100	mondo.json	Gardner's syndrome|intestinal polyposis, osteomas, sebaceous cysts|Gardner syndrome|polyposis coli and multiple hard and soft tissue tumors	http://purl.obolibrary.org/obo/MONDO_0019336	NCIT:C6728|UMLS:C0017097|http://identifiers.org/mesh/D005736|http://identifiers.org/snomedct/60876000|Orphanet:79665	ordo_clinical_subtype
HGNC:19689	biolink:NamedThing	RD3			mondo.json		http://identifiers.org/hgnc/19689		
MONDO:0019331	biolink:Disease	obsolete rare form of salmonellosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019331		
HGNC:17023	biolink:NamedThing	RNF139			mondo.json		http://identifiers.org/hgnc/17023		
MONDO:0019330	biolink:Disease	pili gemini	Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair.	MESH:C537188|Orphanet:79492|ICD9:704.8|SCTID:42829009	mondo.json	pili multigemini	http://purl.obolibrary.org/obo/MONDO_0019330	http://identifiers.org/mesh/C537188|http://identifiers.org/snomedct/42829009|Orphanet:79492	ordo_disease
MONDO:0034971	biolink:Disease	isolated congenital entropion	A rare eyelid malposition disorder characterized by congenital abnormal inversion of the eyelid towards the globe, potentially causing mechanical irritation of the ocular surface by the eyelashes, which may lead to corneal abrasion and scarring with visual impairment. Typical initial symptoms are foreign body sensation, redness, tearing, and ocular discharge.	Orphanet:519386|ICD10CM:Q10.2	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034971	http://purl.bioontology.org/ontology/ICD10CM/Q10.2|Orphanet:519386	ordo_disorder
HGNC:19687	biolink:NamedThing	EIF2AK4			mondo.json		http://identifiers.org/hgnc/19687		
HGNC:17022	biolink:NamedThing	HPS5			mondo.json		http://identifiers.org/hgnc/17022		
MONDO:0019333	biolink:Disease	autosomal recessive hyperinsulinism due to SUR1 deficiency		UMLS:CN206002|Orphanet:79643	mondo.json	autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency	http://purl.obolibrary.org/obo/MONDO_0019333	UMLS:CN206002|Orphanet:79643	ordo_disease
MONDO:0019332	biolink:Disease	punctate palmoplantar keratoderma type 1	Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..	SCTID:717184007|UMLS:CN205995|GARD:0003103|Orphanet:79501	mondo.json	Buschke-Fischer-Brauer syndrome|keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type|PPKP1|punctate palmoplantar keratoderma type I|type I punctate palmoplantar keratoderma|Brauer-Buschke-Fischer syndrome|keratoderma, palmoplantar punctate type 1	http://purl.obolibrary.org/obo/MONDO_0019332	UMLS:CN205995|http://identifiers.org/snomedct/717184007|Orphanet:79501	ordo_disease
HGNC:17024	biolink:NamedThing	PHF11			mondo.json		http://identifiers.org/hgnc/17024		
HGNC:30000	biolink:NamedThing	BBS9			mondo.json		http://identifiers.org/hgnc/30000		
HGNC:19693	biolink:NamedThing	COQ4			mondo.json		http://identifiers.org/hgnc/19693		
HGNC:19691	biolink:NamedThing	MECR			mondo.json		http://identifiers.org/hgnc/19691		
MONDO:0022971	biolink:Disease	diabetes persistent mullerian ducts		GARD:0001840	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022971		gard_rare
MONDO:0022972	biolink:Disease	diabetic mastopathy	Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es).	MESH:C537524|SCTID:724136006|GARD:0008322	mondo.json	diabetic fibrous mastopathy|sclerosing lymphocytic lobulitis|diabetic fibrous breast disease|lymphocytic mastitis|lymphocytic mastopathy	http://purl.obolibrary.org/obo/MONDO_0022972	http://identifiers.org/mesh/C537524|http://identifiers.org/snomedct/724136006	gard_rare
MONDO:0034979	biolink:Disease	obsolete peripapillary staphyloma	OBSOLETE. A rare congenital optic disc excavation characterized by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. [Orphanet:519400]	ICD10CM:Q14.2|Orphanet:519400	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034979	Orphanet:519400	
MONDO:0034978	biolink:Disease	isolated foveal hypoplasia	A rare macular disorder characterized mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterized by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology.	Orphanet:519398|ICD10CM:H35.8	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034978	Orphanet:519398	ordo_disorder
MONDO:0007359	biolink:Disease	commissural lip pits		OMIM:120500|SCTID:109550008	mondo.json	commissural lip pits	http://purl.obolibrary.org/obo/MONDO_0007359	https://omim.org/entry/120500|http://identifiers.org/snomedct/109550008	
MONDO:0022975	biolink:Disease	diaphragmatic agenesis radial aplasia omphalocele		GARD:0001843	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022975		gard_rare
MONDO:0034977	biolink:Disease	obsolete isolated microspherophakia	OBSOLETE. A rare disorder of the anterior segment of the eye characterized by the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia, and secondary angle-closure glaucoma.	Orphanet:519396|ICD10CM:Q12.4	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034977	http://purl.bioontology.org/ontology/ICD10CM/Q12.4|Orphanet:519396	
MONDO:0044302	biolink:Disease	congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		OMIM:617360|UMLS:C4479246	mondo.json	CHDFIDD|congenital heart defects, dysmorphic FACIAL features, and intellectual developmental disorder	http://purl.obolibrary.org/obo/MONDO_0044302	UMLS:C4479246|https://omim.org/entry/617360	
MONDO:0020313	biolink:Disease	obsolete unclassified myelodysplastic/myeloproliferative disease		Orphanet:98825|UMLS:CN207134	mondo.json	unclassified mixed myelodysplastic/myeloproliferatic syndrome	http://purl.obolibrary.org/obo/MONDO_0020313	Orphanet:98825|UMLS:CN207134	ordo_disease
MONDO:0010987	biolink:Disease	autosomal recessive nonsyndromic hearing loss 8	An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22.	DOID:0110527|OMIM:601072|UMLS:C1832827	mondo.json	autosomal recessive deafness 8|DFNB8|autosomal recessive deafness 10|autosomal recessive nonsyndromic deafness type 8|deafness, autosomal recessive type 8|deafness, autosomal recessive 8/10|childhood-onset neurosensory autosomal recessive deafness 8|neurosensory nonsyndromic recessive deafness 8|autosomal recessive nonsyndromic deafness 8|deafness, autosomal recessive 8|deafness, autosomal recessive 10|DFNB10|NRSD8|deafness, childhood-onset neurosensory, autosomal recessive 8	http://purl.obolibrary.org/obo/MONDO_0010987	UMLS:C1832827|DOID:0110527|https://omim.org/entry/601072	
MONDO:0007357	biolink:Disease	colonic varices without portal hypertension		MESH:C565172|UMLS:C1852721|OMIM:120440	mondo.json	colonic varices without portal hypertension	http://purl.obolibrary.org/obo/MONDO_0007357	UMLS:C1852721|http://identifiers.org/mesh/C565172|https://omim.org/entry/120440	
MONDO:0010986	biolink:Disease	autosomal recessive nonsyndromic hearing loss 9	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOF gene.	DOID:0110535|OMIM:601071	mondo.json	NRSD9|deafness, autosomal recessive type 9|DFNB9|auditory neuropathy, nonsyndromic recessive|autosomal recessive nonsyndromic deafness type 9|autosomal recessive nonsyndromic deafness 9|neurosensory nonsyndromic recessive deafness 9|autosomal recessive nonsyndromic deafness caused by mutation in OTOF|deafness, autosomal recessive 9|autosomal recessive deafness 9|OTOF autosomal recessive nonsyndromic deafness|auditory neuropathy, autosomal recessive, 1	http://purl.obolibrary.org/obo/MONDO_0010986	DOID:0110535|https://omim.org/entry/601071	
MONDO:0007358	biolink:Disease	comedones, familial Dyskeratotic		SCTID:254219004|UMLS:C0345424|OMIM:120450|ICD9:757.39|MESH:C562838	mondo.json	comedones, familial Dyskeratotic	http://purl.obolibrary.org/obo/MONDO_0007358	http://identifiers.org/snomedct/254219004|http://identifiers.org/mesh/C562838|UMLS:C0345424|https://omim.org/entry/120450	
MONDO:0044301	biolink:Disease	aortic aneurysm, familial thoracic 11, susceptibility to		OMIM:617349	mondo.json	AAT11|aortic aneurysm, familial thoracic 11, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0044301	https://omim.org/entry/617349	predisposition
MONDO:0020312	biolink:Disease	obsolete atypical chronic myeloid leukemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020312		
HGNC:29017	biolink:NamedThing	PLEKHM1			mondo.json		http://identifiers.org/hgnc/29017		
MONDO:0020311	biolink:Disease	chronic myelomonocytic leukemia	A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement.	ICDO:9945/3|ONCOTREE:CMML|UMLS:C0023480|MESH:D015477|Orphanet:98823|DOID:0080188|MedDRA:10009018|GARD:0008225|NCIT:C3178|SCTID:127225006	mondo.json	CMML|chronic myelomonocytic leukemia (CMML)|chronic myelomonocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0020311	http://identifiers.org/mesh/D015477|DOID:0080188|http://identifiers.org/snomedct/127225006|Orphanet:98823|UMLS:C0023480|NCIT:C3178	ordo_disease
MONDO:0007355	biolink:Disease	uveal coloboma-cleft lip and palate-intellectual disability	Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.	OMIM:120433|Orphanet:1473|MESH:C535971|DOID:0111249|GARD:0001440|UMLS:C0795902	mondo.json	uveal coloboma-cleft lip/palate-mental retardation syndrome|coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate|coloboma, cleft lip/palate and mental retardation syndrome|uveal coloboma-cleft lip and palate-intellectual disability|coloboma, cleft lip/palate and intellectual disability syndrome|COB1|coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation|coloboma-microphthalmos syndrome|coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability|uveal coloboma-cleft lip/palate-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0007355	Orphanet:1473|UMLS:C0795902|DOID:0111249|https://omim.org/entry/120433|http://identifiers.org/mesh/C535971	ordo_malformation_syndrome
MONDO:0044304	biolink:Disease	hyperphenylalaninemia due to DNAJC12 deficiency	Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017}).	UMLS:C4479270|OMIM:617384|Orphanet:508523	mondo.json	hyperphenylalaninemia due to DNAJC12 deficiency|hyperphenylalaninemia, mild, non-BH4-deficient|HPANBH4	http://purl.obolibrary.org/obo/MONDO_0044304	UMLS:C4479270|https://omim.org/entry/617384|Orphanet:508523	ordo_disease
MONDO:0010989	biolink:Disease	Mayer-Rokitansky-Küster-Hauser syndrome type 2	Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.	SCTID:717705004|Orphanet:2578|GARD:0005513|OMIM:601076	mondo.json	MURCS association|Mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome|Mayer-Rokitansky-Küster-Hauser syndrome type 2|MRKH, type 2|Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome|Mayer-Rokitansky-Kuster-Hauser syndrome, type 2|Klippel-Feil deformity, conductive deafness, and absent vagina|MURCS|MULLERIAN duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies|atypical MRKH syndrome|MRKH syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0010989	http://identifiers.org/snomedct/717705004|Orphanet:2578|https://omim.org/entry/601076	ordo_clinical_subtype
RO:0002200	biolink:NamedThing	has phenotype	A relationship that holds between a biological entity and a phenotype. Here a phenotype is construed broadly as any kind of quality of an organism part, a collection of these qualities, or a change in quality or qualities (e.g. abnormally increased temperature). The subject of this relationship can be an organism (where the organism has the phenotype, i.e. the qualities inhere in parts of this organism), a genomic entity such as a gene or genotype (if modifications of the gene or the genotype causes the phenotype), or a condition such as a disease (such that if the condition inheres in an organism, then the organism has the phenotype).		mondo.json		http://purl.obolibrary.org/obo/RO_0002200		
MONDO:0010988	biolink:Disease	aplasia cutis-myopia syndrome	Aplasia cutis-myopia syndrome is characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.	SCTID:720499004|GARD:0000756|Orphanet:1117|MESH:C563394|OMIM:601075	mondo.json	Gershoni-Baruch-Leibo syndrome|aplasia cutis congenita, high myopia, and cone-rod dysfunction|aplasia cutis myopia	http://purl.obolibrary.org/obo/MONDO_0010988	Orphanet:1117|http://identifiers.org/mesh/C563394|https://omim.org/entry/601075|http://identifiers.org/snomedct/720499004	gard_rare|ordo_disease
MONDO:0007356	biolink:Disease	Lynch syndrome 1	Any Lynch syndrome in which the cause of the disease is a mutation in the MSH2 gene.	DOID:0070271|OMIM:120435|MESH:C537261|NCIT:C6725	mondo.json	Lynch syndrome type 1|colorectal cancer, hereditary nonpolyposis, type 1|LYNCH syndrome I|hereditary nonpolyposis colorectal cancer type 1|familial non-polyposis colon cancer type 1|Lynch 1 syndrome|colon cancer, familial nonpolyposis, type 1|HNPCC1|Lynch syndrome 1|COCA1|Lynch syndrome 2|Hereditary non-polyposis colon cancer type 1	http://purl.obolibrary.org/obo/MONDO_0007356	DOID:0070271|http://identifiers.org/mesh/C537261|https://omim.org/entry/120435	
MONDO:0044303	biolink:Disease	congenital heart defects and ectodermal dysplasia		UMLS:C4479250|OMIM:617364	mondo.json	CHDED|congenital heart defects and ectodermal dysplasia	http://purl.obolibrary.org/obo/MONDO_0044303	UMLS:C4479250|https://omim.org/entry/617364	
MONDO:0020310	biolink:Disease	familial focal epilepsy with variable foci	Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.	MESH:C565785|Orphanet:98820|GARD:0013295|SCTID:764522009|OMIMPS:604364|UMLS:CN207131	mondo.json	FFEVF|familial focal epilepsy with variable foci|epilepsy, familial focal, with variable foci|familial partial epilepsy with variable foci	http://purl.obolibrary.org/obo/MONDO_0020310	http://identifiers.org/snomedct/764522009|UMLS:CN207131|https://omim.org/phenotypicSeries/PS604364|Orphanet:98820|http://identifiers.org/mesh/C565785	ordo_disease|prototype_pattern
RO:0002201	biolink:NamedThing	phenotype of	inverse of has phenotype		mondo.json		http://purl.obolibrary.org/obo/RO_0002201		
MONDO:0007353	biolink:Disease	coloboma of macula-brachydactyly type B syndrome	Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner.	OMIM:120400|MESH:C535969|GARD:0001437|UMLS:C1852752|Orphanet:1471|SCTID:717785002	mondo.json	Sorsby syndrome|apical dystrophy|coloboma of macula with type B brachydactyly	http://purl.obolibrary.org/obo/MONDO_0007353	UMLS:C1852752|Orphanet:1471|http://identifiers.org/snomedct/717785002|https://omim.org/entry/120400|http://identifiers.org/mesh/C535969	ordo_malformation_syndrome
MONDO:0007354	biolink:Disease	coloboma of optic nerve		OMIM:120430|GARD:0001438|Orphanet:98947|SCTID:17541006|MESH:C535970|DOID:11975|ICD9:377.23|HP:0000588|GARD:0008502	mondo.json	morning glory Disc anomaly|coloboma of optic nerve (disease)|coloboma of optic papilla|optic nerve coloboma|optic nerve head pits, bilateral congenital|congenital coloboma of the optic nerve	http://purl.obolibrary.org/obo/MONDO_0007354	DOID:11975|http://identifiers.org/snomedct/17541006|Orphanet:98947|https://omim.org/entry/120430|http://identifiers.org/mesh/C535970	ordo_morphological_anomaly
MONDO:0044300	biolink:Disease	familial adenomatous polyposis 4	Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur (summary by {1:Adam et al., 2016}).nnFor a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (OMIM:175100).	Orphanet:480536|OMIM:617100|DOID:0080412	mondo.json	familial adenomatous polyposis 4|FAP4|familial adenomatous polyposis type 4	http://purl.obolibrary.org/obo/MONDO_0044300	https://omim.org/entry/617100|DOID:0080412	
MONDO:0007351	biolink:Disease	coloboma of macula	Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.	Orphanet:98945|OMIM:120300|GARD:0001436	mondo.json	macular coloboma|agenesis of macula|hereditary macular coloboma (subtype)|coloboma of macula	http://purl.obolibrary.org/obo/MONDO_0007351	Orphanet:98945|https://omim.org/entry/120300	ordo_morphological_anomaly
MONDO:0007352	biolink:Disease	renal coloboma syndrome	Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.	UMLS:C1852759|SCTID:446449009|DOID:0090006|ICD9:759.89|NCIT:C123230|Orphanet:1475|GARD:0004106|OMIM:120330|MESH:C537168|ICD10CM:Q60.4	mondo.json	papillorenal syndrome|CAKUT with or without ocular abnormalities|optic coloboma, vesicoureteral reflux and renal anomalies|renal-coloboma syndrome with macular abnormalities|optic nerve coloboma with renal disease|Papillo-renal syndrome|papillo-renal syndrome, optic nerve coloboma with renal disease|renal-coloboma syndrome|optic coloboma, vesicoureteral reflux, and renal anomalies|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|PAPILLORENAL syndrome|coloboma of optic nerve with renal disease|PAPRS	http://purl.obolibrary.org/obo/MONDO_0007352	UMLS:C1852759|NCIT:C123230|http://identifiers.org/mesh/C537168|Orphanet:1475|http://identifiers.org/snomedct/446449009|DOID:0090006|https://omim.org/entry/120330	gard_rare|ordo_malformation_syndrome
MONDO:0010990	biolink:Disease	obsolete Cd4/CD8 T-cell ratio		OMIM:601083	mondo.json	Cd4/CD8 T-cell ratio	http://purl.obolibrary.org/obo/MONDO_0010990	https://omim.org/entry/601083	
MONDO:0007350	biolink:Disease	coloboma, ocular, autosomal dominant		OMIM:120200	mondo.json	coloboma, Uveoretinal|coloboma, ocular|coloboma, ocular, autosomal dominant|coloboma of iris, choroid, and retina	http://purl.obolibrary.org/obo/MONDO_0007350	https://omim.org/entry/120200	
MONDO:0020309	biolink:Disease	obsolete Landau-Kleffner syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020309		
MONDO:0010992	biolink:Disease	Ayme-Gripp syndrome		UMLS:C1832812|DOID:0111688|MESH:C563390|OMIM:601088|Orphanet:477668|EFO:0009020	mondo.json	Aymé-Gripp syndrome|AYGRP|AYME-Gripp syndrome|Ayme-Gripp syndrome|cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation|cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010992	UMLS:C1832812|DOID:0111688|https://omim.org/entry/601088|http://identifiers.org/mesh/C563390	ordo_malformation_syndrome
MONDO:0020308	biolink:Disease	benign childhood occipital epilepsy, Gastaut type	Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare.	Orphanet:98816|UMLS:CN207128	mondo.json	late-onset benign childhood occipital epilepsy	http://purl.obolibrary.org/obo/MONDO_0020308	Orphanet:98816|UMLS:CN207128	ordo_clinical_subtype
MONDO:0020307	biolink:Disease	benign childhood occipital epilepsy, Panayiotopoulos type	Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases.	Orphanet:98815|SCTID:230387008|ICD9:345.80|UMLS:CN207127	mondo.json	Panayiotopoulos syndrome|early-onset benign childhood occipital epilepsy	http://purl.obolibrary.org/obo/MONDO_0020307	UMLS:CN207127|Orphanet:98815|http://identifiers.org/snomedct/230387008	ordo_clinical_subtype
MONDO:0010991	biolink:Disease	laterality defects, autosomal dominant		GARD:0003198|OMIM:601086|MESH:C563391|UMLS:C1832813	mondo.json	laterality defects dominant|laterality defects, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0010991	UMLS:C1832813|http://identifiers.org/mesh/C563391|https://omim.org/entry/601086	
MONDO:0020306	biolink:Disease	absent tibia-polydactyly syndrome	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.	Orphanet:988|GARD:0008309|UMLS:C1861099|MESH:C535564	mondo.json	tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome|polydactyly with absent tibia|absence of tibia with polydactyly	http://purl.obolibrary.org/obo/MONDO_0020306	UMLS:C1861099|Orphanet:988|http://identifiers.org/mesh/C535564	ordo_malformation_syndrome
MONDO:0010994	biolink:Disease	obsolete micromelic dwarfism, Fryns type		UMLS:C1832800|MESH:C537556|GARD:0003642|SCTID:715479009|Orphanet:2641|OMIM:601096	mondo.json	dwarfism, micromelic, with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects|spondyloepimetaphyseal dysplasia micromelic|micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects|spondyloepimetaphyseal dysplasia, micromelic|SEMD, micromelic	http://purl.obolibrary.org/obo/MONDO_0010994	Orphanet:2641|http://identifiers.org/mesh/C537556|UMLS:C1832800|http://identifiers.org/snomedct/715479009|https://omim.org/entry/601096	ordo_disease
MONDO:0019328	biolink:Disease	macrocystic lymphatic malformation	A lymphangioma characterized by the presence of thin-walled cavernous lymphatic spaces.	NCIT:C53316|Orphanet:79489|GARD:0006010	mondo.json	cavernous lymphangioma|cavernous lymphatic malformation|macrocystic lymphangioma	http://purl.obolibrary.org/obo/MONDO_0019328	Orphanet:79489|NCIT:C53316	ordo_malformation_syndrome
MONDO:0010993	biolink:Disease	Harrod syndrome	Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.	Orphanet:2115|SCTID:716089008|UMLS:C0795970|GARD:0002601|MESH:C535635|OMIM:601095	mondo.json	craniofacial digital genital anomalies|cranio-facio-digito-genital syndrome|Harrod syndrome|Harrod Doman Keele syndrome	http://purl.obolibrary.org/obo/MONDO_0010993	UMLS:C0795970|http://identifiers.org/mesh/C535635|https://omim.org/entry/601095|http://identifiers.org/snomedct/716089008|Orphanet:2115	ordo_malformation_syndrome
MONDO:0019327	biolink:Disease	phakomatosis spilorosea		Orphanet:79485|UMLS:CN205986|SCTID:703285005|ICD9:759.6	mondo.json	phakomatosis pigmentovascularis type 3	http://purl.obolibrary.org/obo/MONDO_0019327	Orphanet:79485|http://identifiers.org/snomedct/703285005|UMLS:CN205986	ordo_clinical_subtype
MONDO:0020305	biolink:Disease	isochromosomy Yq	Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia.	Orphanet:98798	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020305	Orphanet:98798	ordo_malformation_syndrome
MONDO:0010996	biolink:Disease	hereditary hemorrhagic telangiectasia type 3		MESH:C537140|OMIM:601101|GARD:0009902	mondo.json	telangiectasia, hereditary hemorrhagic, type 3|HHT3|telangiectasia hereditary hemorrhagic type 3|ORW3|Osler Weber Rendu syndrome type 3	http://purl.obolibrary.org/obo/MONDO_0010996	http://identifiers.org/mesh/C537140|https://omim.org/entry/601101	gard_rare
MONDO:0020304	biolink:Disease	isochromosomy Yp	Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization.	SCTID:766708008|Orphanet:98797	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020304	http://identifiers.org/snomedct/766708008|Orphanet:98797	ordo_malformation_syndrome
MONDO:0010995	biolink:Disease	Charcot-Marie-Tooth disease type 1C	Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene.	Orphanet:101083|DOID:0110151|OMIM:601098|GARD:0001247|MESH:C537984|UMLS:C0270913	mondo.json	Charcot-Marie-Tooth neuropathy, type 1C|HMSN IC|CMT slow nerve conduction type C|neuropathy, hereditary motor and sensory, type 1C|HMSN 1C|CMT 1C|Charcot Marie Tooth disease type 1C|CMT, slow nerve conduction type C|Charcot-Marie-Tooth neuropathy type 1C|CMT1C|neuropathy hereditary motor and sensory type 1C|Charcot-Marie-Tooth disease type 1 caused by mutation in LITAF|Charcot-Marie-Tooth disease, type 1C|Charcot-Marie-Tooth disease, demyelinating, type 1C|LITAF Charcot-Marie-Tooth disease type 1|HMSN1C	http://purl.obolibrary.org/obo/MONDO_0010995	UMLS:C0270913|DOID:0110151|http://identifiers.org/mesh/C537984|https://omim.org/entry/601098|Orphanet:101083	gard_rare|ordo_disease
MONDO:0019329	biolink:Disease	microcystic lymphatic malformation		GARD:0013020|Orphanet:79490	mondo.json	cutaneous lymphangioma circumscriptum|superficial lymphangioma|microcystic infiltrating lymphatic malformation|microcystic lymphangioma|capillary lymphangioma|superficial lymphatic malformation|capillary lymphatic malformation	http://purl.obolibrary.org/obo/MONDO_0019329	Orphanet:79490	ordo_malformation_syndrome
MONDO:0020303	biolink:Disease	Angelman syndrome due to paternal uniparental disomy of chromosome 15		UMLS:CN207117|Orphanet:98795	mondo.json	UPD(15)pat|Angelman syndrome due to paternal uniparental disomy of chromosome type 15	http://purl.obolibrary.org/obo/MONDO_0020303	Orphanet:98795|UMLS:CN207117	ordo_etiological_subtype
MONDO:0022965	biolink:Disease	desmoplastic infantile ganglioglioma	A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)	GARD:0008648|UMLS:C1321878|ONCOTREE:DIG|NCIT:C4738	mondo.json	Desmoplastic infantile ganglioglioma|DIG	http://purl.obolibrary.org/obo/MONDO_0022965	NCIT:C4738|UMLS:C1321878	gard_rare
MONDO:0019324	biolink:Disease	pemphigus foliaceus	Pemphigus foliaceous is a rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed.	SCTID:35154004|UMLS:C0263313|GARD:0007354|HGNC:3050|Orphanet:79481|MedDRA:10057069|EFO:0008601	mondo.json	PF	http://purl.obolibrary.org/obo/MONDO_0019324	http://identifiers.org/snomedct/35154004|UMLS:C0263313|Orphanet:79481	gard_rare|ordo_disease
MONDO:0034987	biolink:Disease	intraductal tubulopapillary neoplasm of pancreas		Orphanet:580572	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034987	Orphanet:580572	ordo_disease
MONDO:0019323	biolink:Disease	pemphigus erythematosus	Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed.	MedDRA:10058917|UMLS:C0263312|SCTID:36739006|ICD10CM:L10.4|Orphanet:79480|EFO:0008603	mondo.json	Senear-Usher syndrome|seborrheic pemphigus	http://purl.obolibrary.org/obo/MONDO_0019323	http://purl.bioontology.org/ontology/ICD10CM/L10.4|http://identifiers.org/snomedct/36739006|UMLS:C0263312|Orphanet:79480	ordo_disease
MONDO:0019326	biolink:Disease	phakomatosis cesiomarmorata		Orphanet:79484|UMLS:CN205985|SCTID:703286006|ICD9:759.6	mondo.json	phakomatosis caesiomarmorata|phakomatosis pigmentovascularis type 5|phakomatosis cesiomarmorata	http://purl.obolibrary.org/obo/MONDO_0019326	Orphanet:79484|http://identifiers.org/snomedct/703286006|UMLS:CN205985	ordo_clinical_subtype
MONDO:0019325	biolink:Disease	phakomatosis cesioflammea		Orphanet:79483|SCTID:703284009|ICD9:759.6|UMLS:CN205984	mondo.json	phakomatosis pigmentovascularis type 2	http://purl.obolibrary.org/obo/MONDO_0019325	Orphanet:79483|UMLS:CN205984|http://identifiers.org/snomedct/703284009	ordo_clinical_subtype
MONDO:0022968	biolink:Disease	dextrocardia with situs inversus	Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus.	GARD:0006268	mondo.json	situs inversus totalis	http://purl.obolibrary.org/obo/MONDO_0022968		gard_rare
MONDO:0019320	biolink:Disease	acanthokeratolytic verrucous nevus		GARD:0005485|UMLS:CN205975|Orphanet:79468	mondo.json	verrucous nevus acanthokeratolytic	http://purl.obolibrary.org/obo/MONDO_0019320	UMLS:CN205975|Orphanet:79468	gard_rare|ordo_clinical_subtype
HGNC:19698	biolink:NamedThing	KCNV2			mondo.json		http://identifiers.org/hgnc/19698		
MONDO:0019322	biolink:Disease	pemphigus vegetans		Orphanet:79479|UMLS:CN205981|MedDRA:10057053|SCTID:81285006|ICD10CM:L10.1|EFO:0008613|UMLS:C0263316	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019322	UMLS:CN205981|http://purl.bioontology.org/ontology/ICD10CM/L10.1|http://identifiers.org/snomedct/81285006|UMLS:C0263316|Orphanet:79479	ordo_clinical_subtype
MONDO:0034981	biolink:Disease	obsolete optic disc pit	OBSOLETE. A rare ophthalmic disorder characterized by a usually congenital and unilateral round or oval, gray, white, or yellowish depression in the optic disc. There may be more than one pit present in one eye, and the anomaly is most commonly found in the inferotemporal region of the optic disc, although any sector may be involved. Patients are often asymptomatic, or may present with visual field defects, in particular paracentral arcuate scotoma connected to an enlarged blind spot. A number of patients develop serous macular detachment, with loss of vision typically becoming apparent in the third or fourth decade of life. [Orphanet:519404]	Orphanet:519404|ICD10CM:Q14.2	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034981	Orphanet:519404	
MONDO:0019321	biolink:Disease	atypical Werner syndrome	A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.	Orphanet:79474|GARD:0011910|UMLS:C4275075|UMLS:CN205977|SCTID:715633008	mondo.json	atypical progeroid syndrome	http://purl.obolibrary.org/obo/MONDO_0019321	UMLS:CN205977|UMLS:C4275075|http://identifiers.org/snomedct/715633008|Orphanet:79474	ordo_disease|gard_rare
MONDO:0034980	biolink:Disease	obsolete isolated megalopapilla	OBSOLETE. A rare ophthalmic disorder characterized by an abnormally large optic disc (greater than 2.1 mm in diameter). The anomaly is usually bilateral with otherwise normal configuration of the disc, and typically associated with an increased cup-to-disc ratio, a round or horizontal oval optic cup, and an intact, pale-appearing neuroretinal rim. In a less frequent variant, a unilateral, anomalous superior excavation obliterates part of the adjacent neuroretinal rim. In general, visual acuity and visual fields are normal, except for an enlarged blind spot. Ciliary arteries are more common in megalopapilla.	Orphanet:519402|ICD10CM:Q14.2	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034980	Orphanet:519402	
HGNC:17035	biolink:NamedThing	EXOSC8			mondo.json		http://identifiers.org/hgnc/17035		
HGNC:19661	biolink:NamedThing	TNNI3K			mondo.json		http://identifiers.org/hgnc/19661		
MONDO:0022960	biolink:Disease	dermatocardioskeletal syndrome boronne type		GARD:0001812	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022960		gard_rare
MONDO:0007328	biolink:Disease	choroidal osteoma, bilateral		UMLS:C1861558|MESH:C566124|OMIM:118865	mondo.json	choroidal osteoma, bilateral	http://purl.obolibrary.org/obo/MONDO_0007328	https://omim.org/entry/118865|http://identifiers.org/mesh/C566124|UMLS:C1861558	
HGNC:20653	biolink:NamedThing	SLC9A9			mondo.json		http://identifiers.org/hgnc/20653		
MONDO:0007329	biolink:Disease	cirrhosis, familial	Cirrhosis in which no causative agent can be identified.	MESH:C566123|SCTID:6183001|NCIT:C84411|Orphanet:209919|OMIM:215600	mondo.json	cirrhosis, familial|endemic Tyrolean infantile cirrhosis|cryptogenic cirrhosis|cirrhosis, familial, with pulmonary hypertension|cirrhosis, cryptogenic|Sen syndrome|copper toxicosis, idiopathic|hereditary cirrhosis of liver|Indian childhood cirrhosis|copper-overload cirrhosis|cirrhosis, Noncryptogenic, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0007329	NCIT:C84411|https://omim.org/entry/215600|http://identifiers.org/snomedct/6183001|http://identifiers.org/mesh/C566123	
MONDO:0034989	biolink:Disease	intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine and postnatal growth restriction, global developmental delay, intellectual disability, and dysmorphic facial features (such as broad nasal root, anteverted nares, long philtrum, low-set and posteriorly rotated ears, and short neck). Additional reported manifestations are microcephaly, short stature, vertebral abnormalities, joint laxity, ocular, cardiac, and renal defects, and minor limb anomalies. Brain imaging may show hypoplastic corpus callosum, delayed myelination, and cerebral atrophy.	Orphanet:508498	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034989	Orphanet:508498	ordo_disorder
MONDO:0022963	biolink:Disease	desmoplastic infantile astrocytoma	A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)	ONCOTREE:DIA|ICDO:9412/1|GARD:0009617|UMLS:C0457179|NCIT:C9476	mondo.json	DIA|Desmoplastic infantile astrocytoma|Desmoplastic astrocytoma of infancy	http://purl.obolibrary.org/obo/MONDO_0022963	NCIT:C9476|UMLS:C0457179	gard_rare
MONDO:0007326	biolink:Disease	obsolete paroxysmal nonkinesigenic dyskinesia 1			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007326		
MONDO:0009989	biolink:Disease	obsolete enhanced S-cone syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009989		
MONDO:0007327	biolink:Disease	chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase		OMIM:118830|UMLS:C1861560|DOID:0111419|Orphanet:411|MESH:C566126	mondo.json	chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase|hyperlipoproteinemia, type 1C	http://purl.obolibrary.org/obo/MONDO_0007327	https://omim.org/entry/118830|DOID:0111419|http://identifiers.org/mesh/C566126|UMLS:C1861560	
MONDO:0009988	biolink:Disease	retinoschisis of fovea		MESH:C538369|UMLS:C1849397|OMIM:268080|GARD:0009143	mondo.json	familial foveal retinoschisis|foveal retinoschisis|retinoschisis of fovea	http://purl.obolibrary.org/obo/MONDO_0009988	UMLS:C1849397|https://omim.org/entry/268080|http://identifiers.org/mesh/C538369	gard_rare
MONDO:0009987	biolink:Disease	autosomal recessive pericentral pigmentary retinopathy	A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy.	MESH:C564838|DOID:0110422|ICD10CM:H35.5|UMLS:C1849398|OMIM:268060	mondo.json	retinopathy, pericentral pigmentary, autosomal recessive|retinitis pigmentosa, pericentral	http://purl.obolibrary.org/obo/MONDO_0009987	DOID:0110422|UMLS:C1849398|http://identifiers.org/mesh/C564838|https://omim.org/entry/268060	
MONDO:0044313	biolink:Disease	intellectual disability, autosomal recessive 60		OMIM:617432	mondo.json	mental retardation, autosomal recessive 60|MRT60|intellectual disability, autosomal recessive 60	http://purl.obolibrary.org/obo/MONDO_0044313	https://omim.org/entry/617432	
MONDO:0010976	biolink:Disease	epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive	A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering.	Orphanet:89838|OMIM:601001|MESH:C563408	mondo.json	epidermolysis bullosa simplex, autosomal recessive 1|epidermolysis bullosa simplex, autosomal recessive K14|KRT14-related epidermolysis bullosa simplex|KRT14-related autosomal recessive epidermolysis bullosa simplex|EBS-AR KRT14|epidermolysis bullosa simplex, autosomal recessive type 1|EBS, autosomal recessive K14|KRT14-related autosomal recessive EBS|epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive|EBSB1	http://purl.obolibrary.org/obo/MONDO_0010976	Orphanet:89838|https://omim.org/entry/601001|http://identifiers.org/mesh/C563408	ordo_disease
MONDO:0020302	biolink:Disease	Angelman syndrome due to maternal 15q11q13 deletion		UMLS:CN207116|Orphanet:98794	mondo.json	Angelman syndrome due to maternal monosomy 15q11q13	http://purl.obolibrary.org/obo/MONDO_0020302	Orphanet:98794|UMLS:CN207116	ordo_etiological_subtype
MONDO:0007324	biolink:Disease	obsolete chorea			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007324		
MONDO:0010975	biolink:Disease	arrhythmogenic right ventricular dysplasia 2	Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the RYR2 gene.	OMIM:600996|DOID:0110071|MESH:C563409|UMLS:C1832931	mondo.json	arrhythmogenic right ventricular cardiomyopathy 2|ARVC2|arrhythmogenic right ventricular dysplasia type 2|arrhythmogenic right ventricular dysplasia, familial, type 2|familial arrhythmogenic right ventricular dysplasia 2|ARVD2|RYR2 familial isolated arrhythmogenic right ventricular dysplasia|arrhythmogenic right ventricular dysplasia, familial, 2|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in RYR2	http://purl.obolibrary.org/obo/MONDO_0010975	https://omim.org/entry/600996|UMLS:C1832931|DOID:0110071|http://identifiers.org/mesh/C563409	
MONDO:0044312	biolink:Disease	immunoskeletal dysplasia with neurodevelopmental abnormalities		UMLS:C4479452|OMIM:617425	mondo.json	IMMUNOSKELETAL dysplasia with neurodevelopmental abnormalities|ISDNA	http://purl.obolibrary.org/obo/MONDO_0044312	https://omim.org/entry/617425|UMLS:C4479452	
MONDO:0007325	biolink:Disease	choreoathetosis, familial inverted		OMIM:118750|UMLS:C1861569|MESH:C566127	mondo.json	infantile choreoathetosis of Fisher|choreoathetosis, familial inverted	http://purl.obolibrary.org/obo/MONDO_0007325	http://identifiers.org/mesh/C566127|UMLS:C1861569|https://omim.org/entry/118750	
MONDO:0009986	biolink:Disease	retinopathy, pigmentary, and intellectual disability		MESH:C538367|OMIM:268050|Orphanet:3084|GARD:0004688	mondo.json	retinal pigmentary degeneration, microcephaly, and severe intellectual disability|Mirhosseini-Holmes-Walton syndrome|retinopathy pigmentary mental retardation|retinopathy, pigmentary, and intellectual disability|retinal pigmentary degeneration, microcephaly, and severe mental retardation|retinopathy pigmentary intellectual disability|retinopathy, pigmentary, and mental retardation	http://purl.obolibrary.org/obo/MONDO_0009986	https://omim.org/entry/268050|http://identifiers.org/mesh/C538367	
MONDO:0020301	biolink:Disease	Prader-Willi syndrome due to paternal 15q11q13 deletion		UMLS:CN207115|Orphanet:98793	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020301	Orphanet:98793|UMLS:CN207115	ordo_etiological_subtype
MONDO:0007322	biolink:Disease	chondrodysplasia punctata, tibial-metacarpal type		OMIM:118651|ICD9:756.59|Orphanet:79346|SCTID:254083002|MESH:C562961	mondo.json	chondrodysplasia punctata, Mt type|chondrodysplasia punctata, tibia-metacarpal type	http://purl.obolibrary.org/obo/MONDO_0007322	Orphanet:79346|http://identifiers.org/snomedct/254083002|http://identifiers.org/mesh/C562961|https://omim.org/entry/118651	ordo_malformation_syndrome
MONDO:0010978	biolink:Disease	portal vein, cavernous transformation of		MESH:C563407|UMLS:C1832917|OMIM:601004	mondo.json	portal vein, cavernous transformation of	http://purl.obolibrary.org/obo/MONDO_0010978	UMLS:C1832917|https://omim.org/entry/601004|http://identifiers.org/mesh/C563407	
MONDO:0044315	biolink:Disease	craniosynostosis 7	Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100).	OMIM:617439|UMLS:C4479496	mondo.json	CRS7|craniosynostosis 7, susceptibility to|craniosynostosis 7|craniosynostosis 7, digenic|Crs7, digenic	http://purl.obolibrary.org/obo/MONDO_0044315	UMLS:C4479496|https://omim.org/entry/617439	
MONDO:0020300	biolink:Disease	autosomal dominant nocturnal frontal lobe epilepsy	Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.	ICD9:345.80|MESH:C579932|Orphanet:98784|GARD:0011918|DOID:0060681|SCTID:698021005|UMLS:C3696898	mondo.json	ADNFLE|ENFL	http://purl.obolibrary.org/obo/MONDO_0020300	UMLS:C3696898|http://identifiers.org/snomedct/698021005|Orphanet:98784|http://identifiers.org/mesh/C579932|DOID:0060681	ordo_disease
MONDO:0009985	biolink:Disease	retinohepatoendocrinologic syndrome	Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family.	GARD:0004685|MESH:C564839|OMIM:268040|Orphanet:3087|UMLS:C1849399|SCTID:724000006	mondo.json	retinohepatoendocrinologic syndrome|rhe syndrome	http://purl.obolibrary.org/obo/MONDO_0009985	UMLS:C1849399|http://identifiers.org/mesh/C564839|http://identifiers.org/snomedct/724000006|https://omim.org/entry/268040	gard_rare|ordo_malformation_syndrome
MONDO:0044314	biolink:Disease	retinitis pigmentosa 78		UMLS:C4479481|OMIM:617433	mondo.json	retinitis pigmentosa 78|RP78	http://purl.obolibrary.org/obo/MONDO_0044314	UMLS:C4479481|https://omim.org/entry/617433	
MONDO:0010977	biolink:Disease	Brody myopathy	Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder.	ICD9:359.89|GARD:0009158|MESH:C536607|UMLS:C1832918|SCTID:703530005|OMIM:601003|DOID:0050692|Orphanet:53347	mondo.json	Brody disease|sarcoplasmic reticulum -Ca2+ATPase deficiency|Brody myopathy	http://purl.obolibrary.org/obo/MONDO_0010977	http://identifiers.org/snomedct/703530005|UMLS:C1832918|DOID:0050692|http://identifiers.org/mesh/C536607|https://omim.org/entry/601003|Orphanet:53347	gard_rare|ordo_disease
MONDO:0007323	biolink:Disease	Chondronectin		OMIM:118670	mondo.json	Chondronectin	http://purl.obolibrary.org/obo/MONDO_0007323	https://omim.org/entry/118670	
MONDO:0009984	biolink:Disease	late-adult onset retinitis pigmentosa	A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life.	DOID:0110421|ICD10CM:H35.5|MESH:C564840|OMIM:268025|UMLS:C1849400	mondo.json	retinitis pigmentosa, 'Senile'|retinitis pigmentosa, late-ADULT onset|senile retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0009984	UMLS:C1849400|http://identifiers.org/mesh/C564840|https://omim.org/entry/268025|DOID:0110421	
MONDO:0009983	biolink:Disease	retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome	Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.	GARD:0004683|Orphanet:3085|MESH:C564841|OMIM:268020|UMLS:C1849401	mondo.json	retinitis pigmentosa, deafness, mental retardation, and hypogonadism|insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation|insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and intellectual disability|retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome|retinitis pigmentosa, deafness, intellectual disability, and hypogonadism|retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome|retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome	http://purl.obolibrary.org/obo/MONDO_0009983	UMLS:C1849401|http://identifiers.org/mesh/C564841|Orphanet:3085|https://omim.org/entry/268020	ordo_malformation_syndrome
MONDO:0007320	biolink:Disease	chondrocalcinosis due to apatite crystal deposition		MESH:C535939|UMLS:C1861580|GARD:0010139|OMIM:118610	mondo.json	familial apatite disease|chondrocalcinosis due to apatite crystal deposition	http://purl.obolibrary.org/obo/MONDO_0007320	http://identifiers.org/mesh/C535939|UMLS:C1861580|https://omim.org/entry/118610	gard_rare
MONDO:0007321	biolink:Disease	autosomal dominant chondrodysplasia punctata	Autosomal dominant form of chondrodysplasia punctata.	GARD:0001298|DOID:0060293|OMIM:118650|Orphanet:79344|MESH:C563248	mondo.json	chondrodysplasia punctata, Sheffield type|chondrodysplasia punctata Sheffield type|chondrodysplasia punctata, autosomal dominant|chondrodysplasia punctata due to warfarin Teratogenicity|chondrodysplasia punctata due to vitamin K deficiency	http://purl.obolibrary.org/obo/MONDO_0007321	http://identifiers.org/mesh/C563248|DOID:0060293|https://omim.org/entry/118650	gard_rare|ordo_malformation_syndrome
MONDO:0009982	biolink:Disease	retinitis pigmentosa inversa with deafness		UMLS:C1849405|MESH:C564842|OMIM:268010	mondo.json	retinitis pigmentosa inversa with deafness	http://purl.obolibrary.org/obo/MONDO_0009982	http://identifiers.org/mesh/C564842|UMLS:C1849405|https://omim.org/entry/268010	
MONDO:0010979	biolink:Disease	Timothy syndrome	Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.	DOID:0060173|NCIT:C142894|Orphanet:65283|GARD:0009294|MESH:C536962|UMLS:C1832916|OMIM:601005	mondo.json	Timothy syndrome|long QT syndrome 8|LQT8|long QT syndrome-syndactyly syndrome|TIMOTHY syndrome|TS|long QT syndrome with syndactyly|long QT syndrome type 8	http://purl.obolibrary.org/obo/MONDO_0010979	NCIT:C142894|UMLS:C1832916|http://identifiers.org/mesh/C536962|DOID:0060173|https://omim.org/entry/601005|Orphanet:65283	ordo_clinical_subtype|gard_rare
MONDO:0044311	biolink:Disease	brachycephaly, trichomegaly, and developmental delay	BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017}).	UMLS:C4479431|OMIM:617412	mondo.json	brachycephaly, trichomegaly, and developmental delay|BTDD|Macinnes syndrome	http://purl.obolibrary.org/obo/MONDO_0044311	https://omim.org/entry/617412|UMLS:C4479431	
MONDO:0009981	biolink:Disease	obsolete retinitis pigmentosa type 1			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009981		
MONDO:0044310	biolink:Disease	Diamond-Blackfan anemia 17		OMIM:617409|UMLS:C4479428	mondo.json	Diamond-Blackfan anemia 17|DBA17	http://purl.obolibrary.org/obo/MONDO_0044310	https://omim.org/entry/617409|UMLS:C4479428	
MONDO:0009980	biolink:Disease	retinal telangiectasia and hypogammaglobulinemia		OMIM:267900|GARD:0002383|UMLS:C2930961|MESH:C535638	mondo.json	Frenkel Russe syndrome|retinal telangiectasia associated with hypogammaglobulinemia|retinal telangiectasia and hypogammaglobulinemia	http://purl.obolibrary.org/obo/MONDO_0009980	UMLS:C2930961|https://omim.org/entry/267900|http://identifiers.org/mesh/C535638	
MONDO:0044309	biolink:Disease	Diamond-Blackfan anemia 16		OMIM:617408|UMLS:C4479424	mondo.json	DBA16|Diamond-Blackfan anemia 16	http://purl.obolibrary.org/obo/MONDO_0044309	UMLS:C4479424|https://omim.org/entry/617408	
MONDO:0010981	biolink:Disease	absent tibia-polydactyly-arachnoid cyst syndrome	Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.	OMIM:601027|GARD:0005210|Orphanet:3328|MESH:C563403|SCTID:733068001	mondo.json	tibia, absence or hypoplasia of, with polydactyly, RETROCEREBELLAR arachnoid cyst, and other anomalies|Holmes-Collins syndrome|absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies|tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies|Holmes Collins syndrome|tibia absent polydactyly arachnoid cyst	http://purl.obolibrary.org/obo/MONDO_0010981	http://identifiers.org/mesh/C563403|https://omim.org/entry/601027|http://identifiers.org/snomedct/733068001|Orphanet:3328	ordo_malformation_syndrome|gard_rare
MONDO:0010980	biolink:Disease	midline malformations, multiple, with limb abnormalities and hypopituitarism		OMIM:601016|Orphanet:1678|MESH:C536177|UMLS:C1832874	mondo.json	midline malformations, multiple, with limb abnormalities and hypopituitarism|Dincsoy-Salih-Patel syndrome|Dincsoy syndrome	http://purl.obolibrary.org/obo/MONDO_0010980	UMLS:C1832874|http://identifiers.org/mesh/C536177|https://omim.org/entry/601016	
GO:0044848	biolink:NamedThing	biological phase	A distinct period or stage in a biological process or cycle.		mondo.json		http://purl.obolibrary.org/obo/GO_0044848		
MONDO:0010983	biolink:Disease	dystonia 9	A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34.	MESH:C563401|UMLS:C1832855|DOID:0090044|Orphanet:53583|OMIM:601042|SCTID:715564000	mondo.json	choreoathetosis/spasticity, episodic|dystonia type 9|Cse choreoathetosis, paroxysmal, with episodic ataxia|dystonia 9|choreoathetosis, kinesigenic, with episodic ataxia and spasticity|episodic choreoathetosis/spasticity|paroxysmal dystonic choreathetosis with episodic ataxia and spasticity|DYT9	http://purl.obolibrary.org/obo/MONDO_0010983	UMLS:C1832855|DOID:0090044|http://identifiers.org/mesh/C563401|https://omim.org/entry/601042|Orphanet:53583|http://identifiers.org/snomedct/715564000	ordo_disease
MONDO:0044306	biolink:Disease	neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017}).	Orphanet:500545|OMIM:617393|UMLS:C4479333	mondo.json	neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination|NECFM|severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	http://purl.obolibrary.org/obo/MONDO_0044306	UMLS:C4479333|https://omim.org/entry/617393|Orphanet:500545	ordo_disease
MONDO:0019317	biolink:Disease	follicular atrophoderma-basal cell carcinoma		Orphanet:79459|UMLS:CN205972	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019317	Orphanet:79459|UMLS:CN205972	ordo_clinical_subtype
HGNC:17009	biolink:NamedThing	TRIOBP			mondo.json		http://identifiers.org/hgnc/17009		
MONDO:0019316	biolink:Disease	maculopapular cutaneous mastocytosis	Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin.	GARD:0013079|Orphanet:79457|NCIT:C3433|ICDO:9740/1|UMLS:C0042111|SCTID:78745000|ICD9:708.8|DOID:12309|MedDRA:10046752	mondo.json	telangiectasia macularis eruptive perstans|telangiectatic cutaneous mastocytosis|urticaria pigmentosa/maculopapular cutaneous mastocytosis|UP/MPCM|Paucicellular mastocytosis|urticaria pigmentosa	http://purl.obolibrary.org/obo/MONDO_0019316	DOID:12309|Orphanet:79457|NCIT:C3433|UMLS:C0042111|http://identifiers.org/snomedct/78745000	ordo_disease
MONDO:0010982	biolink:Disease	ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin		MESH:C563402|OMIM:601039|UMLS:C1832858|GARD:0002957	mondo.json	ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin|ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin	http://purl.obolibrary.org/obo/MONDO_0010982	UMLS:C1832858|https://omim.org/entry/601039|http://identifiers.org/mesh/C563402	
MONDO:0044305	biolink:Disease	ectodermal dysplasia 13, hair/tooth type		OMIM:617392|UMLS:C4479322|DOID:0111650	mondo.json	ECTD13|ectodermal dysplasia 13, hair/tooth type	http://purl.obolibrary.org/obo/MONDO_0044305	UMLS:C4479322|https://omim.org/entry/617392|DOID:0111650	
MONDO:0019319	biolink:Disease	verrucous nevus	A benign wart-like, pigmented skin lesion appearing on various parts of the body at birth or early in childhood, usually in linear groupings.	SCTID:398723007|UMLS:C0362030|Orphanet:79467|NCIT:C4674	mondo.json	verrucous Epidermal Nevus	http://purl.obolibrary.org/obo/MONDO_0019319	Orphanet:79467|http://identifiers.org/snomedct/398723007|NCIT:C4674|UMLS:C0362030	ordo_clinical_subtype
MONDO:0010985	biolink:Disease	epilepsy, familial adult myoclonic, 1		DOID:0111690|MESH:C563399|OMIM:601068|UMLS:C1832841	mondo.json	benign adult familial myoclonic epilepsy 1|epilepsy, familial ADULT myoclonic, 1|cortical myoclonic tremor with epilepsy, familial, 1|FAME1	http://purl.obolibrary.org/obo/MONDO_0010985	UMLS:C1832841|DOID:0111690|https://omim.org/entry/601068|http://identifiers.org/mesh/C563399	
MONDO:0044308	biolink:Disease	bardet-biedl syndrome 21	BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900).	OMIM:617406|UMLS:C4319932	mondo.json	Bardet-Biedl syndrome 21|BBS21	http://purl.obolibrary.org/obo/MONDO_0044308	UMLS:C4319932|https://omim.org/entry/617406	
MONDO:0010984	biolink:Disease	Usher syndrome type 1D	A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner.	GARD:0005438|OMIM:601067|DOID:0110831|ICD10CM:H35.5	mondo.json	Usher syndrome type 1D|Usher syndrome, type 1D|Ush1D/F, Cdh23/Pcdh15, digenic|Usher syndrome, type 1D/F digenic|USH1D|Usher syndrome, type Id/F, Cdh23/Pcdh15, digenic|Usher syndrome type ID|USHER syndrome, type ID	http://purl.obolibrary.org/obo/MONDO_0010984	https://omim.org/entry/601067|DOID:0110831	gard_rare
MONDO:0019318	biolink:Disease	inflammatory linear verrucous epidermal nevus		Orphanet:79466|GARD:0005484|UMLS:C0473574|SCTID:399995006	mondo.json	linear verrucose epidermal nevus|ILVEN|inflammatory linear verrucous epidermal naevus	http://purl.obolibrary.org/obo/MONDO_0019318	http://identifiers.org/snomedct/399995006|Orphanet:79466|UMLS:C0473574	ordo_clinical_subtype
MONDO:0019313	biolink:Disease	lymphatic malformation	Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation.	GARD:0007220|DOID:0050580|ICD10CM:Q82.0|SCTID:254199006|ICD9:757.0|OMIMPS:153100	mondo.json	lymphedema, hereditary|hereditary lymphedema	http://purl.obolibrary.org/obo/MONDO_0019313	http://purl.bioontology.org/ontology/ICD10CM/Q82.0|http://identifiers.org/snomedct/254199006|https://omim.org/phenotypicSeries/PS153100|DOID:0050580	ordo_disease
MONDO:0019312	biolink:Disease	Hermansky-Pudlak syndrome	Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.	GARD:0006643|Orphanet:79430|ICD9:270.2|MESH:D022861|ICD10CM:E70.331|MedDRA:10071775|ICD10CM:E70.3|DOID:3753|NCIT:C37261|OMIMPS:203300|SCTID:9311003	mondo.json	Hermansky Pudlak syndrome|HPS (Hermansky Pudlak syndrome)|HPS	http://purl.obolibrary.org/obo/MONDO_0019312	DOID:3753|Orphanet:79430|http://identifiers.org/mesh/D022861|NCIT:C37261|https://omim.org/phenotypicSeries/PS203300|http://identifiers.org/snomedct/9311003|http://purl.bioontology.org/ontology/ICD10CM/E70.331	ordo_disease
MONDO:0019315	biolink:Disease	diffuse cutaneous mastocytosis	Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM).	Orphanet:79456|UMLS:C0024901|MedDRA:10012812|ICDO:9740/1|DOID:3665|NCIT:C3218|GARD:0012686	mondo.json	DCM|diffuse cutaneous maculopapulous mastocytosis|diffuse cutaneous mastocytosis	http://purl.obolibrary.org/obo/MONDO_0019315	DOID:3665|Orphanet:79456|UMLS:C0024901|NCIT:C3218	ordo_disease
MONDO:0019314	biolink:Disease	cutaneous mastocytoma	Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.	Orphanet:79455|MESH:D054705|GARD:0012687	mondo.json	cutaneous local mastocytoma|multiple mastocytoma|solitary mastocytoma	http://purl.obolibrary.org/obo/MONDO_0019314	Orphanet:79455	ordo_disease
MONDO:0019311	biolink:Disease	woolly hair nevus	Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.	Orphanet:79414|SCTID:239124001|UMLS:C0343114	mondo.json	wooly hair nevus	http://purl.obolibrary.org/obo/MONDO_0019311	http://identifiers.org/snomedct/239124001|UMLS:C0343114|Orphanet:79414	ordo_disease
MONDO:0034991	biolink:Disease	intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome	A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent.	Orphanet:508512	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034991	Orphanet:508512	ordo_disorder
MONDO:0019310	biolink:Disease	recessive dystrophic epidermolysis bullosa inversa	Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.	Orphanet:79409|UMLS:CN205951	mondo.json	inverse RDEB|RDEB-I|inverse recessive dystrophic epidermolysis bullosa|dystrophic epidermolysis bullosa inversa	http://purl.obolibrary.org/obo/MONDO_0019310	UMLS:CN205951|Orphanet:79409	ordo_disease
HGNC:20661	biolink:NamedThing	SLC25A26			mondo.json		http://identifiers.org/hgnc/20661		
MONDO:0007339	biolink:Disease	blepharocheilodontic syndrome	An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.	SCTID:717911008|MESH:C536188|OMIMPS:119580|GARD:0002071|Orphanet:1997|UMLS:C1861536|DOID:0080344	mondo.json	ectropion inferior cleft lip and or palate|BCDS|ectropion inferior-cleft lip and or palate syndrome|lagophthalmia-cleft lip and palate syndrome|ectropion inferior-cleft lip and/or palate syndrome|blepharo-cheilo-dontic syndrome|blepharocheilodontic syndrome|Elschnig syndrome|Elsching syndrome|BCD syndrome|clefting, ectropion, and conical teeth|lagophthalmia with bilateral cleft lip and palate|clefting-ectropion-conical teeth syndrome|BCDS1|ectropion, inferior, with cleft lip and/or palate|blepharocheilodontic syndrome 1|blepharo-cheilo-odontic syndrome	http://purl.obolibrary.org/obo/MONDO_0007339	http://identifiers.org/snomedct/717911008|https://omim.org/phenotypicSeries/PS119580|DOID:0080344|UMLS:C1861536|http://identifiers.org/mesh/C536188|Orphanet:1997	ordo_malformation_syndrome|gard_rare|prototype_pattern
HGNC:20665	biolink:NamedThing	SCN3B			mondo.json		http://identifiers.org/hgnc/20665		
MONDO:0007337	biolink:Disease	cleft palate-lateral synechia syndrome	Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.	OMIM:119550|GARD:0001391|ICD9:759.89|SCTID:403772000|DOID:0080313|MESH:C563047|UMLS:C0795898|Orphanet:2016	mondo.json	cleft palate lateral synechia syndrome|syngnathia|Cpls syndrome|CPLS syndrome|cleft palate-lateral synechia syndrome	http://purl.obolibrary.org/obo/MONDO_0007337	http://identifiers.org/mesh/C563047|Orphanet:2016|http://identifiers.org/snomedct/403772000|https://omim.org/entry/119550|DOID:0080313|UMLS:C0795898	ordo_malformation_syndrome|gard_rare
MONDO:0022953	biolink:Disease	delta-1-pyrroline-5-carboxylate dehydrogenase deficiency	A disease that has its basis in the disruption of 1-pyrroline-5-carboxylate dehydrogenase activity.	GARD:0001798	mondo.json	1-pyrroline-5-carboxylate dehydrogenase activity disease|disorder of 1-pyrroline-5-carboxylate dehydrogenase activity	http://purl.obolibrary.org/obo/MONDO_0022953		gard_rare
MONDO:0007338	biolink:Disease	cleft soft palate	Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.	DOID:0110214|SCTID:253997002|ICD10CM:Q35.3|OMIM:119570|MESH:C562950|Orphanet:99772	mondo.json	cleft velum palatinum|soft cleft palate|cleft velum|cleft soft palate	http://purl.obolibrary.org/obo/MONDO_0007338	DOID:0110214|http://identifiers.org/mesh/C562950|http://identifiers.org/snomedct/253997002|https://omim.org/entry/119570|Orphanet:99772|http://purl.bioontology.org/ontology/ICD10CM/Q35.3	ordo_morphological_anomaly
MONDO:0009999	biolink:Disease	autosomal recessive Robinow syndrome	Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.	OMIM:268310|DOID:0060764|Orphanet:1507|MESH:C535863|UMLS:C1849334	mondo.json	costovertebral segmentation defect with mesomelia, formerly|costovertebral segmentation defect with mesomelia|Covesdem syndrome, formerly|Robinow syndrome, autosomal recessive|Covesdem syndrome|RRS|COVESDEM syndrome|Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals|costovertebral segmentation defect-mesomelia syndrome|Robinow syndrome, autosomal recessive, with Brachy-syn-polydactyly	http://purl.obolibrary.org/obo/MONDO_0009999	UMLS:C1849334|http://identifiers.org/mesh/C535863|DOID:0060764|https://omim.org/entry/268310|Orphanet:1507	ordo_clinical_subtype
CHR:9606-chr13q1	biolink:NamedThing	13q1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr13q1		
MONDO:0044324	biolink:Disease	Al Kaissi syndrome	Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017}).	OMIM:617694|UMLS:CN502749	mondo.json	Growth retardation, spine malformation, dysmorphic facies, and developmental delay|AL KAISSI syndrome|ALKAS	http://purl.obolibrary.org/obo/MONDO_0044324	UMLS:CN502749|https://omim.org/entry/617694	
MONDO:0010965	biolink:Disease	autosomal recessive nonsyndromic hearing loss 6	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMIE gene.	MESH:C563418|UMLS:C1832992|OMIM:600971|DOID:0110512	mondo.json	DFNB6|autosomal recessive deafness 6|autosomal recessive nonsyndromic deafness caused by mutation in TMIE|deafness, autosomal recessive type 6|neurosensory nonsyndromic recessive deafness 6|deafness, autosomal recessive 6|autosomal recessive nonsyndromic deafness 6|TMIE autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 6	http://purl.obolibrary.org/obo/MONDO_0010965	https://omim.org/entry/600971|UMLS:C1832992|DOID:0110512|http://identifiers.org/mesh/C563418	clingen
MONDO:0009998	biolink:Disease	Richieri Costa-Pereira syndrome	Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.	UMLS:C1849348|OMIM:268305|GARD:0004718|Orphanet:3102|SCTID:723998001|MESH:C535677	mondo.json	Richieri Costa-Pereira syndrome|short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome|short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome|ROBIN sequence with cleft mandible and limb anomalies|Richieri-Costa-Pereira syndrome|Richieri-Costa and Pereira form of acrofacial dysostosis|short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot|Richieri Costa Pereira syndrome	http://purl.obolibrary.org/obo/MONDO_0009998	UMLS:C1849348|Orphanet:3102|http://identifiers.org/snomedct/723998001|https://omim.org/entry/268305|http://identifiers.org/mesh/C535677	gard_rare|ordo_malformation_syndrome
MONDO:0007335	biolink:Disease	orofacial cleft 1	Cleft lip with or without cleft palate mapped to chromosome 6p24.	MESH:C566121|OMIM:119530|UMLS:C1861537|NCIT:C124838|DOID:0080395	mondo.json	OFC1|cleft Lip/palate, nonsyndromic|cleft lip with or without cleft palate, nonsyndromic, 1|orofacial cleft, nonsyndromic|orofacial cleft-1|orofacial cleft 1	http://purl.obolibrary.org/obo/MONDO_0007335	NCIT:C124838|https://omim.org/entry/119530|http://identifiers.org/mesh/C566121|UMLS:C1861537|DOID:0080395	
GO:0044853	biolink:NamedThing	plasma membrane raft	A membrane raft that is part of the plasma membrane.		mondo.json		http://purl.obolibrary.org/obo/GO_0044853		
MONDO:0009997	biolink:Disease	Roberts syndrome	Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.	GARD:0007387|Orphanet:3103|SCTID:48718006|NCIT:C126326|MESH:C535687|DOID:5325	mondo.json	pseudothalidomide syndrome|Roberts tetraphocomelia syndrome|tetraphocomelia-cleft palate syndrome|Roberts-SC phocomelia syndrome|Appelt-Gerken-Lenz syndrome|Roberts syndrome/SC phocomelia|SC phocomelia syndrome (mild variant of Roberts syndrome)|long bone deficiencies associated with cleft lip-palate|SC pseudothalidomide syndrome|SC phocomelia	http://purl.obolibrary.org/obo/MONDO_0009997	Orphanet:3103|http://identifiers.org/snomedct/48718006|DOID:5325|http://identifiers.org/mesh/C535687|NCIT:C126326	ordo_malformation_syndrome|obsoletion_candidate
MONDO:0044323	biolink:Disease	Rahman syndrome	Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017}).	OMIM:617537|UMLS:C4479637	mondo.json	Rahman syndrome|RMNS	http://purl.obolibrary.org/obo/MONDO_0044323	https://omim.org/entry/617537|UMLS:C4479637	
MONDO:0007336	biolink:Disease	isolated cleft palate	A cleft palate that is not part of a larger syndrome.	DOID:0110213|OMIM:119540|ICD10CM:Q35.3|ICD10CM:Q35.1|UMLS:CN234898|GARD:0001896	mondo.json	nonsyndromic cleft palate|cleft palate|isolated cleft palate|dominant cleft palate|cleft palate, isolated|CPI	http://purl.obolibrary.org/obo/MONDO_0007336	UMLS:CN234898|https://omim.org/entry/119540|DOID:0110213	gard_rare
MONDO:0010964	biolink:Disease	epiphyseal dysplasia, multiple, 3	Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene.	OMIM:600969|DOID:0070304|GARD:0009792|UMLS:C1832998|MESH:C535503	mondo.json	EDM3|COL9A3 multiple epiphyseal dysplasia (disease)|epiphyseal dysplasia, multiple, 3|epiphyseal dysplasia multiple 3|epiphyseal dysplasia, multiple, type 3|epiphyseal dysplasia, multiple, 3, with myopathy|epiphyseal dysplasia, multiple, 3, with or without myopathy|multiple epiphyseal dysplasia 3|multiple epiphyseal dysplasia (disease) caused by mutation in COL9A3	http://purl.obolibrary.org/obo/MONDO_0010964	DOID:0070304|https://omim.org/entry/600969|UMLS:C1832998|http://identifiers.org/mesh/C535503	gard_rare
CHR:9606-chr13q3	biolink:NamedThing	13q3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr13q3		
MONDO:0044326	biolink:Disease	developmental delay and seizures with or without movement abnormalities	DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017}).	OMIM:617836|DOID:0080473|UMLS:CN769090|Orphanet:442835	mondo.json	developmental delay and seizures with or without movement abnormalities|DEDSM	http://purl.obolibrary.org/obo/MONDO_0044326	DOID:0080473|https://omim.org/entry/617836|UMLS:CN769090	
MONDO:0007333	biolink:Disease	van der Woude syndrome 1	Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene.	OMIM:119300	mondo.json	lip-pit syndrome|VAN DER Woude syndrome 1|van der Woude syndrome 1|Vdws|cleft lip and/or palate with mucous cysts of Lower lip|VWS1|IRF6 van der Woude syndrome|van der Woude syndrome caused by mutation in IRF6|Van Der Woude syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0007333	https://omim.org/entry/119300	
MONDO:0010967	biolink:Disease	autosomal recessive nonsyndromic hearing loss 7	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.	DOID:0110520|MESH:C563417|OMIM:600974|UMLS:C1832978	mondo.json	DFNB7|autosomal recessive nonsyndromic deafness type 7|deafness, autosomal recessive 7|autosomal recessive nonsyndromic deafness caused by mutation in TMC1|TMC1 autosomal recessive nonsyndromic deafness|DFNB11|deafness, autosomal recessive type 7|autosomal recessive nonsyndromic deafness 7|deafness, autosomal recessive 11|autosomal recessive deafness 7	http://purl.obolibrary.org/obo/MONDO_0010967	https://omim.org/entry/600974|UMLS:C1832978|DOID:0110520|http://identifiers.org/mesh/C563417	
MONDO:0009996	biolink:Disease	rhizomelic syndrome, Urbach type	Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.	OMIM:268250|UMLS:C1849382|Orphanet:3098|GARD:0004705|MESH:C537611	mondo.json	rhizomelic dysplasia, familial|rhizomelic syndrome|familial rhizomelic dysplasia	http://purl.obolibrary.org/obo/MONDO_0009996	UMLS:C1849382|Orphanet:3098|https://omim.org/entry/268250|http://identifiers.org/mesh/C537611	ordo_malformation_syndrome
GO:0044851	biolink:NamedThing	hair cycle phase	The cyclical periods of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair; one of the collection or mass of filaments growing from the skin of an animal, and forming a covering for a part of the head or for any part or the whole of the body.		mondo.json		http://purl.obolibrary.org/obo/GO_0044851		
MONDO:0010966	biolink:Disease	achondrogenesis type IB	Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.	GARD:0000460|Orphanet:93298|OMIM:600972|DOID:0080055	mondo.json	achondrogenesis, Fraccaro type|Fraccaro achondrogenesis|achondrogenesis, Parenti-Fraccaro type|achondrogenesis, type IB|ACG1B|achondrogenesis, type 1B|achondrogenesis type 1B|achondrogenesis Ib|achondrogenesis Fraccaro type|achondrogenesis type IB	http://purl.obolibrary.org/obo/MONDO_0010966	Orphanet:93298|https://omim.org/entry/600972|DOID:0080055	ordo_clinical_subtype
MONDO:0009995	biolink:Disease	obsolete rheumatic fever-related antigen		Orphanet:3099|OMIM:268240	mondo.json	rheumatic fever-related antigen|rheumatic fever, acute, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0009995	https://omim.org/entry/268240	
MONDO:0007334	biolink:Disease	autosomal dominant popliteal pterygium syndrome	Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.	SCTID:718222000|Orphanet:1300|GARD:0003242|UMLS:CN199177|OMIM:119500	mondo.json	PPS|cleft Lip/palate, paramedian mucous cysts of the Lower Lip, popliteal pterygium, digital and genital anomalies|popliteal pterygium syndrome|popliteal pterygium syndrome, autosomal dominant|facio-genito-popliteal syndrome|popliteal pterygium syndrome 1|faciogenitopopliteal syndrome|popliteal web syndrome|cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies	http://purl.obolibrary.org/obo/MONDO_0007334	http://identifiers.org/snomedct/718222000|https://omim.org/entry/119500|Orphanet:1300|UMLS:CN199177	ordo_malformation_syndrome
MONDO:0044325	biolink:Disease	Fanconi anemia, complementation group W		UMLS:CN653907|OMIM:617784	mondo.json	FANCW|Fanconi anemia, complementation group W	http://purl.obolibrary.org/obo/MONDO_0044325	https://omim.org/entry/617784|UMLS:CN653907	
MONDO:0007331	biolink:Disease	obsolete cleft chin		OMIM:119000	mondo.json	Chin dimple|cleft chin	http://purl.obolibrary.org/obo/MONDO_0007331	https://omim.org/entry/119000	
MONDO:0009994	biolink:Disease	alveolar rhabdomyosarcoma	A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.	UMLS:C0206655|MedDRA:10065867|ICDO:8920/3|EFO:0000248|ONCOTREE:ARMS|SCTID:404053004|ICD9:171.9|NCIT:C3749|GARD:0004701|DOID:4051|OMIM:268220|MESH:D018232|HP:0006779|Orphanet:99756	mondo.json	rhabdomyosarcoma, alveolar, somatic mutation|rhabdomyosarcoma type 2|alveolar childhood rhabdomyosarcoma|rhabdomyosarcoma 2|rhabdomyosarcoma, alveolar|monomorphous round cell rhabdomyosarcoma|arms|alveolar rhabdomyosarcoma (morphologic abnormality)|pediatric alveolar rhabdomyosarcoma|alveolar rhabdomyosarcoma (disease)|alveolar rhabdomyosarcoma|RMS2|rhabdomyosarcoma 2, alveolar, somatic mutation|rhabdomyosarcoma alveolar	http://purl.obolibrary.org/obo/MONDO_0009994	http://identifiers.org/snomedct/404053004|NCIT:C3749|https://omim.org/entry/268220|DOID:4051|Orphanet:99756|UMLS:C0206655|http://identifiers.org/mesh/D018232	ordo_clinical_subtype
MONDO:0010969	biolink:Disease	cone-rod dystrophy 5	Any cone-rod dystrophy in which the cause of the disease is a mutation in the PITPNM3 gene.	UMLS:C1832976|MESH:C563415|DOID:0111010|GARD:0010655|OMIM:600977	mondo.json	CORD5|PITPNM3 cone-rod dystrophy|cone-rod dystrophy type 5|cone-rod dystrophy caused by mutation in PITPNM3|cone-rod dystrophy 5	http://purl.obolibrary.org/obo/MONDO_0010969	http://identifiers.org/mesh/C563415|https://omim.org/entry/600977|DOID:0111010|UMLS:C1832976	gard_rare
MONDO:0044320	biolink:Disease	retinitis pigmentosa 79		OMIM:617460|UMLS:C4479526	mondo.json	retinitis pigmentosa 79|RP79	http://purl.obolibrary.org/obo/MONDO_0044320	UMLS:C4479526|https://omim.org/entry/617460	
MONDO:0009993	biolink:Disease	embryonal rhabdomyosarcoma	A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.	OMIM:268210|MedDRA:10065868|HP:0006743|ICDO:8910/3|EFO:0000437|GARD:0004702|ICD9:171.9|ONCOTREE:ERMS|Orphanet:99757|NCIT:C8971|UMLS:C0206656|DOID:3246|SCTID:404051002	mondo.json	embryonal rhabdomyosarcoma|rhabdomyosarcoma embryonal|rhabdomyosarcoma, somatic|rhabdomyosarcoma, embryonal, type 1|rhabdomyosarcoma chromosomal region|ERMS|embryonal rhabdomyosarcoma (disease)|rhabdomyosarcoma 1|rhabdomyosarcoma, embryonal, 1|spindle cell rhabdomyosarcomas (type of ERMS)|RMSE1|botryoid rhabdomyosarcoma (type of ERMS)	http://purl.obolibrary.org/obo/MONDO_0009993	http://identifiers.org/snomedct/404051002|https://omim.org/entry/268210|Orphanet:99757|DOID:3246|UMLS:C0206656|NCIT:C8971	ordo_clinical_subtype
MONDO:0007332	biolink:Disease	split-hand/foot malformation with long bone deficiency 1		OMIM:119100|MESH:C536425	mondo.json	tibial aplasia with split-hand/split-foot deformity|SHFLD1|ectrodactyly with aplasia of long bones|tibial aplasia with split-hand-split-foot deformity|split-hand/foot malformation with long bone deficiency|split-hand-foot malformation with long bone deficiency|SHFLD|cleft hand absent tibia|aplasia of tibia with ectrodactyly|split-hand/foot malformation with long bone deficiency 1|cleft hand and absent tibia	http://purl.obolibrary.org/obo/MONDO_0007332	https://omim.org/entry/119100|http://identifiers.org/mesh/C536425	
MONDO:0010968	biolink:Disease	glaucoma 3, primary infantile, B		UMLS:C1832977|GARD:0002490|MESH:C536824|OMIM:600975	mondo.json	glaucoma primary congenita type 3B|Glc3, type B|primary congenital glaucoma|GLC3 type B|glaucoma, primary congenital, type B|glaucoma 3, primary infantile, B|GLC3B|primary congenital glaucoma type 3B|glaucoma 3 primary infantile B	http://purl.obolibrary.org/obo/MONDO_0010968	https://omim.org/entry/600975|UMLS:C1832977|http://identifiers.org/mesh/C536824	gard_rare
MONDO:0009992	biolink:Disease	myoglobinuria, acute recurrent, autosomal recessive		MESH:C564832|OMIM:268200|UMLS:C1849386	mondo.json	myoglobinuria, acute recurrent, autosomal recessive|myoglobinuria, familial paroxysmal paralytic|rhabdomyolysis, acute recurrent	http://purl.obolibrary.org/obo/MONDO_0009992	https://omim.org/entry/268200|http://identifiers.org/mesh/C564832|UMLS:C1849386	
MONDO:0044322	biolink:Disease	intellectual developmental disorder with neuropsychiatric features	Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by {2:Srour et al., 2017}).	OMIM:617532|UMLS:C4479636	mondo.json	intellectual developmental disorder with neuropsychiatric features|IDDNPF	http://purl.obolibrary.org/obo/MONDO_0044322	UMLS:C4479636|https://omim.org/entry/617532	
MONDO:0044321	biolink:Disease	structural heart defects and renal anomalies syndrome		OMIM:617478|UMLS:C4479549	mondo.json	structural heart defects and renal anomalies syndrome|SHDRA	http://purl.obolibrary.org/obo/MONDO_0044321	UMLS:C4479549|https://omim.org/entry/617478	
MONDO:0007330	biolink:Disease	congenital pseudoarthrosis of clavicle	Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle.	Orphanet:66630|MESH:C562548|SCTID:70794004|OMIM:118980	mondo.json	congenital pseudoarthrosis of the clavicle|congenital pseudarthrosis of the clavicle|clavicle, pseudarthrosis of, congenital	http://purl.obolibrary.org/obo/MONDO_0007330	http://identifiers.org/mesh/C562548|http://identifiers.org/snomedct/70794004|https://omim.org/entry/118980|Orphanet:66630	ordo_disease
MONDO:0009991	biolink:Disease	obsolete Rh deficiency syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009991		
MONDO:0009990	biolink:Disease	Revesz syndrome	Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.	Orphanet:3088|UMLS:C1327916|NCIT:C152064|MESH:C538371|DOID:0070026|OMIM:268130|GARD:0004695|SCTID:723512008	mondo.json	Revesz syndrome|dyskeratosis congenita with bilateral exudative retinopathy|DKCA5|dyskeratosis congenita, autosomal dominant 5|retinopathy-anemia-central nervous system anomalies syndrome|exudative retinopathy with bone marrow failure|Revesz-DeBuse syndrome	http://purl.obolibrary.org/obo/MONDO_0009990	DOID:0070026|Orphanet:3088|NCIT:C152064|https://omim.org/entry/268130|http://identifiers.org/mesh/C538371|UMLS:C1327916|http://identifiers.org/snomedct/723512008	gard_rare|ordo_malformation_syndrome
MONDO:0019309	biolink:Disease	late-onset junctional epidermolysis bullosa	Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood.	Orphanet:79406|SCTID:719432000|UMLS:C4304724|UMLS:CN205949|GARD:0012921	mondo.json	JEB-lo|EB progressive	http://purl.obolibrary.org/obo/MONDO_0019309	UMLS:C4304724|Orphanet:79406|UMLS:CN205949|http://identifiers.org/snomedct/719432000	gard_rare|ordo_disease
MONDO:0010970	biolink:Disease	cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies		MESH:C563414|OMIM:600987|UMLS:C1832950|DOID:0111697	mondo.json	cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies|CPCMR|cleft palate, Cardiac defects, and mental retardation|cleft palate, CARDIAC defects, and mental retardation|cleft palate, CARDIAC defects, and intellectual disability|cleft palate, Cardiac defects, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010970	https://omim.org/entry/600987|UMLS:C1832950|DOID:0111697|http://identifiers.org/mesh/C563414	
MONDO:0010972	biolink:Disease	hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome	This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present.	GARD:0005518|Orphanet:2180|SCTID:721229003|OMIM:600991|MESH:C536461	mondo.json	Waaler-Aarskog syndrome|hydrocephalus, Sprengel anomaly, and costovertebral dysplasia|Ferlini-Ragno-Calzolari syndrome|hydrocephalus, costovertebral dysplasia, and Sprengel anomaly|hydrocephalus, skeletal anomalies, and mental disturbance	http://purl.obolibrary.org/obo/MONDO_0010972	http://identifiers.org/snomedct/721229003|https://omim.org/entry/600991|Orphanet:2180|http://identifiers.org/mesh/C536461	ordo_malformation_syndrome
MONDO:0044317	biolink:Disease	premature ovarian failure 13		OMIM:617442|UMLS:C4479510	mondo.json	premature ovarian failure 13|POF13	http://purl.obolibrary.org/obo/MONDO_0044317	UMLS:C4479510|https://omim.org/entry/617442	
MONDO:0019306	biolink:Disease	congenital non-bullous ichthyosiform erythroderma	A variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.	NCIT:C84805|DOID:1699|MESH:D017490|Orphanet:79394|HP:0007431|SCTID:205550003	mondo.json	lamellar desquamation of the newborn|ichthyosiform erythroderma|lamellar ichthyosis|erythrodermic ichthyosis|congenital ichthyosiform erythroderma|nonbullous congenital ichthyosiform erythroderma|congenital ichthyosiform erythroderma (disease)|non-bullous congenital ichthyosiform erythroderma|congenital non bullous ichthyosiform erythroderma|CIE|alligator skin	http://purl.obolibrary.org/obo/MONDO_0019306	Orphanet:79394|http://identifiers.org/snomedct/205550003	ordo_disease
MONDO:0010971	biolink:Disease	infundibulopelvic stenosis-multicystic kidney syndrome	Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging.	MESH:C535528|UMLS:C1832949|SCTID:725905005|GARD:0003005|Orphanet:1849|OMIM:600989	mondo.json	infundibulopelvic dysgenesis	http://purl.obolibrary.org/obo/MONDO_0010971	https://omim.org/entry/600989|UMLS:C1832949|Orphanet:1849|http://identifiers.org/mesh/C535528|http://identifiers.org/snomedct/725905005	ordo_malformation_syndrome
MONDO:0019305	biolink:Disease	obsolete immune deficiency with skin involvement		Orphanet:79391	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019305	Orphanet:79391	ordo_group_of_disorders
MONDO:0044316	biolink:Disease	thrombocytopenia, anemia, and myelofibrosis		UMLS:C4479504|OMIM:617441	mondo.json	thrombocytopenia, anemia, and myelofibrosis|THAMY	http://purl.obolibrary.org/obo/MONDO_0044316	UMLS:C4479504|https://omim.org/entry/617441	
HGNC:17019	biolink:NamedThing	PRICKLE1			mondo.json		http://identifiers.org/hgnc/17019		
MONDO:0019308	biolink:Disease	junctional epidermolysis bullosa inversa	Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina.	OMIM:226650|Orphanet:79405|UMLS:C2673609|GARD:0002143|UMLS:C2673610	mondo.json	JEB-I|EBJ-I|inverse JEB	http://purl.obolibrary.org/obo/MONDO_0019308	Orphanet:79405|UMLS:C2673610|UMLS:C2673609	ordo_disease
MONDO:0010974	biolink:Disease	nephrotic syndrome, type 2	Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene.	GARD:0003946|DOID:0080379|OMIM:600995	mondo.json	NPHS2 nephrotic syndrome|nephrotic syndrome, type 2|SRN1|NPHS2|nephrotic syndrome caused by mutation in NPHS2|nephrotic syndrome, steroid-resistant, autosomal recessive|nephrotic syndrome, idiopathic, steroid-resistant	http://purl.obolibrary.org/obo/MONDO_0010974	https://omim.org/entry/600995|DOID:0080379	
MONDO:0044319	biolink:Disease	intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017}).	Orphanet:505237|OMIM:617452|UMLS:C4479520	mondo.json	intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies|IDDFSDA	http://purl.obolibrary.org/obo/MONDO_0044319	UMLS:C4479520|https://omim.org/entry/617452|Orphanet:505237	ordo_malformation_syndrome
MONDO:0010973	biolink:Disease	autosomal dominant nonsyndromic hearing loss 5	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene.	MESH:C563410|OMIM:600994|UMLS:C1832932|DOID:0110575	mondo.json	DFNA5|autosomal dominant nonsyndromic deafness 5|autosomal dominant nonsyndromic deafness type 5|GSDME autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 5|autosomal dominant nonsyndromic deafness caused by mutation in GSDME|deafness, autosomal dominant 5|autosomal dominant deafness 5	http://purl.obolibrary.org/obo/MONDO_0010973	https://omim.org/entry/600994|UMLS:C1832932|DOID:0110575|http://identifiers.org/mesh/C563410	
MONDO:0044318	biolink:Disease	intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017}).	UMLS:C4479517|OMIM:617450	mondo.json	intellectual developmental disorder with gastrointestinal difficulties and high pain threshold|Jansen de Vries syndrome|IDDGIP	http://purl.obolibrary.org/obo/MONDO_0044318	UMLS:C4479517|https://omim.org/entry/617450	
MONDO:0019307	biolink:Disease	generalized junctional epidermolysis bullosa non-Herlitz type	Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.	SCTID:724225008|Orphanet:79402|DOID:0060738|GARD:0012922	mondo.json	GABEB|JEB, generalized intermediate|junctional epidermolysis bullosa non-Herlitz type|generalized atrophic benign epidermolysis bullosa|JEB-nH gen|generalized junctional epidermolysis bullosa, non-Herlitz type|junctional epidermolysis bullosa, generalized intermediate|junctional epidermolysis bullosa, Disentis type|junctional epidermolysis bullosa generalisata mitis	http://purl.obolibrary.org/obo/MONDO_0019307	Orphanet:79402|http://identifiers.org/snomedct/724225008|DOID:0060738	ordo_clinical_subtype
MONDO:0019302	biolink:Disease	obsolete mucopolysaccharidosis with skin involvement			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019302		
MONDO:0019301	biolink:Disease	obsolete metabolic disease with skin involvement		Orphanet:79387|UMLS:CN205935	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019301	Orphanet:79387|UMLS:CN205935	ordo_group_of_disorders
MONDO:0019304	biolink:Disease	obsolete rare photodermatosis		UMLS:C0920193|Orphanet:79390	mondo.json	rare skin photosensitivity	http://purl.obolibrary.org/obo/MONDO_0019304	UMLS:C0920193|Orphanet:79390	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0022945	biolink:Disease	deafness peripheral neuropathy arterial disease		GARD:0001701	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022945		gard_rare
MONDO:0019303	biolink:Disease	premature aging syndrome	Changes in the organism associated with senescence, occurring at an accelerated rate.	MedDRA:10063493|MESH:D019588|Orphanet:79389	mondo.json	premature aging	http://purl.obolibrary.org/obo/MONDO_0019303	Orphanet:79389|http://identifiers.org/mesh/D019588	ordo_group_of_disorders|disease_grouping
MONDO:0022946	biolink:Disease	deafness progressive cataract autosomal dominant		GARD:0001702	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022946		gard_rare
MONDO:0022948	biolink:Disease	Deal Barratt Dillon syndrome		UMLS:C2931773|MESH:C538206	mondo.json	Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea	http://purl.obolibrary.org/obo/MONDO_0022948	UMLS:C2931773|http://identifiers.org/mesh/C538206	
MONDO:0019300	biolink:Disease	obsolete rare skin tumor or hamartoma		UMLS:CN205934|Orphanet:79386	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019300	Orphanet:79386|UMLS:CN205934	ordo_group_of_disorders|disease_grouping
MONDO:0022949	biolink:Disease	defective apolipoprotein b-100		GARD:0001720	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022949		gard_rare
MONDO:0019371	biolink:Disease	narcolepsy without cataplexy	Narcolepsy without cataplexy is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior.	EFO:0005855|Orphanet:83465|ICD9:347.00|UMLS:C1456240|SCTID:91521000119104|ICD10CM:G47.419|ICD10CM:G47.4|UMLS:CN206062	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019371	UMLS:CN206062|Orphanet:83465|http://purl.bioontology.org/ontology/ICD10CM/G47.419|UMLS:C1456240|http://identifiers.org/snomedct/91521000119104	ordo_disease
MONDO:0020360	biolink:Disease	complete cryptophthalmia		Orphanet:98949|DOID:0111719	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020360	Orphanet:98949|DOID:0111719	ordo_clinical_subtype
MONDO:0019370	biolink:Disease	vulvovaginal gingival syndrome		UMLS:C3873472|Orphanet:83453|UMLS:CN206058|SCTID:707250009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019370	UMLS:C3873472|UMLS:CN206058|Orphanet:83453|http://identifiers.org/snomedct/707250009	ordo_disease
MONDO:0019373	biolink:Disease	desmoplastic small round cell tumor	Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.	MedDRA:10064587|UMLS:C0281508|ONCOTREE:DSRCT|ICDO:8806/3|MESH:D058405|MedDRA:10064581|GARD:0006265|NCIT:C8300|Orphanet:83469|EFO:1000895|HGNC:12796	mondo.json	Desmoplastic small round-cell tumor|DSRCT|Desmoplas. small round cell tumor|Desmoplastic small round cell tumor|desmoplastic small round cell tumor|Desmoplastic small round-cell neoplasm|Polyphenotypic small round cell tumor|desmoplastic small-round-cell tumor	http://purl.obolibrary.org/obo/MONDO_0019373	NCIT:C8300|UMLS:C0281508|Orphanet:83469|http://identifiers.org/mesh/D058405	ordo_disease|gard_rare
MONDO:0019372	biolink:Disease	solitary bone cyst	A solitary bone cyst is a benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported.	NCIT:C2904|MESH:D001845|ICD9:733.21|SCTID:203467005|ICD10CM:M85.4|Orphanet:83468	mondo.json	bone cyst|cyst of the bone|solitary cyst|unicameral bone cyst|simple bone cyst|cyst of bone	http://purl.obolibrary.org/obo/MONDO_0019372	http://identifiers.org/mesh/D001845|http://purl.bioontology.org/ontology/ICD10CM/M85.4|Orphanet:83468|http://identifiers.org/snomedct/203467005|NCIT:C2904	ordo_disease
MONDO:0034926	biolink:Disease	obsolete rare disorder with entropion		Orphanet:519270	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034926	Orphanet:519270	
MONDO:0034923	biolink:Disease	obsolete inflammatory/autoimmune disorder involving the lacrimal system		Orphanet:519264	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034923	Orphanet:519264	
MONDO:0020368	biolink:Disease	Axenfeld anomaly	Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies.	SCTID:204152008|MedDRA:10058653|OMIM:602482|ICD9:743.44|OMIM:601631|Orphanet:98978	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020368	Orphanet:98978|http://identifiers.org/snomedct/204152008	ordo_morphological_anomaly
MONDO:0020367	biolink:Disease	juvenile open angle glaucoma	Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.	MedDRA:10064032|ICD9:365.14|OMIM:231300|UMLS:C2981140|SCTID:71111008|Orphanet:98977|DOID:1068	mondo.json	juvenile glaucoma|JOAG|childhood glaucoma (disease)|glaucoma of childhood|glaucoma (disease) of childhood|pediatric glaucoma (disease)	http://purl.obolibrary.org/obo/MONDO_0020367	Orphanet:98977|DOID:1068|http://identifiers.org/snomedct/71111008|UMLS:C2981140	ordo_disease
MONDO:0007388	biolink:Disease	congenitally short costocoracoid ligament	Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour.	Orphanet:2391|MESH:C536448|OMIM:122580|GARD:0001551|SCTID:725101002	mondo.json	fixation of the scapula to the first rib by a congenitally short costocoracoid ligament|congenital shortness of the costocoracoid ligament|costocoracoid ligament, congenitally short|costocoracoid ligament congenitally short	http://purl.obolibrary.org/obo/MONDO_0007388	Orphanet:2391|http://identifiers.org/snomedct/725101002|https://omim.org/entry/122580|http://identifiers.org/mesh/C536448	ordo_malformation_syndrome|gard_rare
MONDO:0020366	biolink:Disease	congenital glaucoma	A developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm.	GARD:0002485|SCTID:204113001|NCIT:C50648	mondo.json	Buphthalmus|primary congenital glaucoma|buphthalmia|buphthalmos	http://purl.obolibrary.org/obo/MONDO_0020366	NCIT:C50648|http://identifiers.org/snomedct/204113001	ordo_disease
MONDO:0020365	biolink:Disease	congenital hereditary endothelial dystrophy type I	Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.	OMIM:121700|SCTID:416633008|Orphanet:98975	mondo.json	CHED1|autosomal dominant congenital hereditary endothelial dystrophy|CHEDI|congenital hereditary endothelial dystrophy type 1|autosomal dominant CHED	http://purl.obolibrary.org/obo/MONDO_0020365	http://identifiers.org/snomedct/416633008|Orphanet:98975	ordo_disease
MONDO:0007389	biolink:Disease	spondylocostal dysostosis 5	Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene.	UMLS:C4083048|Orphanet:1797|GARD:0012806|OMIM:122600	mondo.json	spondylothoracic dysostosis|spondylocostal dysostosis type 5|spondylocostal dysplasia|polydysspondyly|spondylocostal dysostosis caused by mutation in TBX6|TBX6 spondylocostal dysostosis|scoliosis, congenital, with or without rib anomalies|SCDO5|spondylocostal dysostosis 5|costovertebral segmentation anomalies	http://purl.obolibrary.org/obo/MONDO_0007389	https://omim.org/entry/122600|UMLS:C4083048	
MONDO:0007386	biolink:Disease	obsolete human coronavirus sensitivity		OMIM:122460	mondo.json	HCVS|human coronavirus sensitivity|Coronavirus 229E susceptibility	http://purl.obolibrary.org/obo/MONDO_0007386	https://omim.org/entry/122460	
MONDO:0020364	biolink:Disease	posterior polymorphous corneal dystrophy	Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.	UMLS:CN239252|Orphanet:98973|DOID:0060457|OMIMPS:122000	mondo.json	corneal dystrophy, posterior polymorphous|Schlichting dystrophy|PPCD|hereditary polymorphus posterior corneal dystrophy|posterior polymorphous dystrophy	http://purl.obolibrary.org/obo/MONDO_0020364	DOID:0060457|UMLS:CN239252|https://omim.org/phenotypicSeries/PS122000|Orphanet:98973	ordo_disease
MONDO:0007387	biolink:Disease	Cornelia de Lange syndrome 1	Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene.	OMIM:122470|SCTID:40354009|UMLS:CN029798|DOID:0080505|ICD9:759.89	mondo.json	Cdl|De Lange syndrome|CDLS1|Brachmann-De Lange syndrome|NIPBL Cornelia de Lange syndrome|Cornelia De Lange syndrome type 1|typus Degenerativus Amstelodamensis|Cornelia DE Lange syndrome 1|Cornelia de Lange syndrome 1|Cornelia de Lange syndrome caused by mutation in NIPBL	http://purl.obolibrary.org/obo/MONDO_0007387	UMLS:CN029798|https://omim.org/entry/122470|DOID:0080505|http://identifiers.org/snomedct/40354009	
MONDO:0020363	biolink:Disease	honey-droplet corneal dystrophy		Orphanet:98958|UMLS:CN207218	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020363	Orphanet:98958|UMLS:CN207218	ordo_disease
MONDO:0007384	biolink:Disease	congenital trigeminal anesthesia	Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).	OMIM:122450|SCTID:763218005|GARD:0010034|Orphanet:231013|MESH:C536440|UMLS:C1852541	mondo.json	trigeminal anesthesia, familial|corneal hypesthesia, familial|familial trigeminal anesthesia	http://purl.obolibrary.org/obo/MONDO_0007384	https://omim.org/entry/122450|http://identifiers.org/mesh/C536440|UMLS:C1852541|Orphanet:231013|http://identifiers.org/snomedct/763218005	ordo_disease
MONDO:0020362	biolink:Disease	inverse Marcus-Gunn phenomenon	Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported.	UMLS:CN207213|Orphanet:98951	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020362	Orphanet:98951|UMLS:CN207213	ordo_clinical_subtype
MONDO:0020361	biolink:Disease	partial cryptophthalmia		Orphanet:98950|DOID:0111718	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020361	Orphanet:98950|DOID:0111718	ordo_clinical_subtype
MONDO:0007385	biolink:Disease	idiopathic spontaneous coronary artery dissection		UMLS:C1852540|MESH:C565153|OMIM:122455|Orphanet:458718	mondo.json	idiopathic SCAD|coronary artery dissection, spontaneous	http://purl.obolibrary.org/obo/MONDO_0007385	https://omim.org/entry/122455|http://identifiers.org/mesh/C565153|Orphanet:458718|UMLS:C1852540	ordo_disease
MONDO:0007382	biolink:Disease	Ramos-Arroyo syndrome	Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability.	GARD:0004636|Orphanet:1051|MESH:C535286|UMLS:C2930866|OMIM:122430	mondo.json	Ramos-Arroyo syndrome|congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation|corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation|corneal anesthesia-deafness-intellectual disability syndrome|corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and intellectual disability|Ramos Arroyo Clark syndrome|congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0007382	https://omim.org/entry/122430|http://identifiers.org/mesh/C535286|UMLS:C2930866|Orphanet:1051	ordo_malformation_syndrome
GO:0030291	biolink:NamedThing	protein serine/threonine kinase inhibitor activity	Binds to and stops, prevents or reduces the activity of a protein serine/threonine kinase.		mondo.json		http://purl.obolibrary.org/obo/GO_0030291		
MONDO:0007383	biolink:Disease	Stern-Lubinsky-Durrie syndrome	Stern-Lubinsky-Durrie syndrome is characterised by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait.	OMIM:122440|Orphanet:3194|GARD:0001531|MESH:C537488|SCTID:723584003	mondo.json	Stern Lubinsky Durrie syndrome|CORNEODERMATOOSSEOUS syndrome|corneal dystrophy, epithelial, with skin and skeletal changes|Cdo syndrome|corneo-dermato-osseous syndrome|corneal dystrophy epithelial and short stature	http://purl.obolibrary.org/obo/MONDO_0007383	https://omim.org/entry/122440|http://identifiers.org/mesh/C537488|http://identifiers.org/snomedct/723584003|Orphanet:3194	ordo_malformation_syndrome
MONDO:0007380	biolink:Disease	lattice corneal dystrophy type I	Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.	UMLS:C1690006|UMLS:CN207224|GARD:0009678|MESH:C537881|Orphanet:98964|SCTID:419197009|OMIM:122200	mondo.json	Lcd1|lattice corneal dystrophy, type 1|corneal dystrophy, lattice type 1|lattice corneal dystrophy type 1|LCD|LCDI|classic lattice corneal dystrophy|Biber-Haab-Dimmer dystrophy|corneal dystrophy, lattice type I|CDL1	http://purl.obolibrary.org/obo/MONDO_0007380	http://identifiers.org/mesh/C537881|UMLS:C1690006|Orphanet:98964|http://identifiers.org/snomedct/419197009|UMLS:CN207224|https://omim.org/entry/122200	ordo_disease
MONDO:0007381	biolink:Disease	epithelial recurrent erosion dystrophy	Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.	SCTID:715908008|MESH:C565155|OMIM:122400|DOID:0070337|UMLS:C1852551|Orphanet:293381	mondo.json	recurrent hereditary corneal erosions|dystrophia Smolandiensis|dystrophia Helsinglandica|epithelial recurrent erosion dystrophy|corneal erosions, recurring hereditary|ERED	http://purl.obolibrary.org/obo/MONDO_0007381	https://omim.org/entry/122400|http://identifiers.org/mesh/C565155|Orphanet:293381|UMLS:C1852551|DOID:0070337|http://identifiers.org/snomedct/715908008	ordo_disease
MONDO:0020359	biolink:Disease	congenital symblepharon		DOID:0111720|Orphanet:98948	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020359	Orphanet:98948|DOID:0111720	ordo_clinical_subtype
MONDO:0020358	biolink:Disease	obsolete coloboma of optic disc			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020358		
MONDO:0019379	biolink:Disease	obsolete st. Louis encephalitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019379		
MONDO:0019378	biolink:Disease	la Crosse encephalitis	La Crosse encephalitis (CE) is an acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits.	UMLS:C0014053|MESH:D004670|DOID:0050118|ICD9:062.5|MedDRA:10014584|Orphanet:83483|GARD:0010925|SCTID:61094002|UMLS:C0276379	mondo.json	California encephalitis|Neuroinvasive California encephalitis virus infection|Californian encephalitis|La Crosse virus caused infectious encephalitis|California virus encephalitis|La Crosse virus infectious encephalitis	http://purl.obolibrary.org/obo/MONDO_0019378	http://identifiers.org/snomedct/61094002|DOID:0050118|UMLS:C0276379|Orphanet:83483|http://identifiers.org/mesh/D004670|UMLS:C0014053	ordo_disease
MONDO:0034931	biolink:Disease	obsolete rare conjunctivitis		Orphanet:519280	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034931	Orphanet:519280	
HGNC:20626	biolink:NamedThing	CHD7			mondo.json		http://identifiers.org/hgnc/20626		
MONDO:0019375	biolink:Disease	megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.	GARD:0010341|Orphanet:83473|SCTID:722036008|OMIMPS:603387	mondo.json	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome|MPPH syndrome|megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome|megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0019375	https://omim.org/phenotypicSeries/PS603387|Orphanet:83473|http://identifiers.org/snomedct/722036008	ordo_malformation_syndrome
GO:0030295	biolink:NamedThing	protein kinase activator activity	Binds to and increases the activity of a protein kinase, an enzyme which phosphorylates a protein.		mondo.json		http://purl.obolibrary.org/obo/GO_0030295		
MONDO:0019374	biolink:Disease	CAMOS syndrome	CAMOS syndrome is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.	SCTID:726031001|GARD:0009977|UMLS:C1847114|Orphanet:83472|UMLS:C4511633|OMIM:606937	mondo.json	SCAR5|cerebellar ataxia with intellectual disability optic atrophy and skin abnormalities|cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome|spinocerebellar ataxia autosomal recessive 5|CAMOS|cerebellar ataxia with mental retardation optic atrophy and skin abnormalities	http://purl.obolibrary.org/obo/MONDO_0019374	Orphanet:83472|UMLS:C1847114|http://identifiers.org/snomedct/726031001|UMLS:C4511633	ordo_malformation_syndrome
MONDO:0019377	biolink:Disease	Mycoplasma encephalitis	Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis).	Orphanet:83482	mondo.json	Mycoplasma pneumoniae caused infectious encephalitis|Mycoplasma pneumoniae infectious encephalitis	http://purl.obolibrary.org/obo/MONDO_0019377	Orphanet:83482	ordo_disease
MONDO:0019376	biolink:Disease	West-Nile encephalitis	An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis.	SCTID:392662004|DOID:2365|Orphanet:83476|EFO:0007545|GARD:0009959|ICD9:066.41|MESH:D014901	mondo.json	West Nile virus caused infectious encephalitis|West-Nile fever|West Nile virus infectious encephalitis|West Nile fever with encephalitis|West Nile fever encephalitis|West Nile encephalitis	http://purl.obolibrary.org/obo/MONDO_0019376	http://identifiers.org/snomedct/392662004|Orphanet:83476|DOID:2365	ordo_disease
MONDO:0019360	biolink:Disease	rickettsialpox		UMLS:C0035597|Orphanet:83312|SCTID:75096007|MedDRA:10039137|ICD9:083.2|DOID:11103|MESH:D012288	mondo.json	vesicular rickettsiosis|Rickettsia akari spotted fever	http://purl.obolibrary.org/obo/MONDO_0019360	Orphanet:83312|UMLS:C0035597|http://identifiers.org/snomedct/75096007|DOID:11103	ordo_disease
MONDO:0019362	biolink:Disease	epidemic louse-borne typhus	A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis.	Orphanet:83314|NCIT:C84689|DOID:0050480|MedDRA:10014979	mondo.json	epidemic typhus|sylvatic typhus|epidemic louse-borne typhus|epidemic typhus fever|typhus	http://purl.obolibrary.org/obo/MONDO_0019362	DOID:0050480|Orphanet:83314|NCIT:C84689	ordo_disease
NCBITaxon:8825	biolink:OrganismalEntity	Neognathae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_8825		
MONDO:0034937	biolink:Disease	obsolete syndromic ectopia lentis		Orphanet:519292	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034937	Orphanet:519292	
MONDO:0019361	biolink:Disease	obsolete boutonneuse fever			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019361		
NCBITaxon:29461	biolink:OrganismalEntity	Brucella suis		GC_ID:11	mondo.json	Brucella melitensis bv. Suis|Brucella melitensis biovar Suis	http://purl.obolibrary.org/obo/NCBITaxon_29461		
MONDO:0020357	biolink:Disease	coloboma of eyelid	A congenital abnormality in which a part of the upper or lower eyelid tissue is missing.	UMLS:C0521573|NCIT:C98878|Orphanet:98946|SCTID:95202004	mondo.json	coloboma of the eyelid	http://purl.obolibrary.org/obo/MONDO_0020357	Orphanet:98946|http://identifiers.org/snomedct/95202004|NCIT:C98878|UMLS:C0521573	ordo_morphological_anomaly
MONDO:0020356	biolink:Disease	coloboma of iris	A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris.	GARD:0001434|HP:0000612|NCIT:C98879|SCTID:9446007|MedDRA:10052642|Orphanet:98944	mondo.json	coloboma of the iris|coloboma of iris|coloboma of iris (disease)	http://purl.obolibrary.org/obo/MONDO_0020356	Orphanet:98944|NCIT:C98879|http://identifiers.org/snomedct/9446007	ordo_morphological_anomaly
MONDO:0020355	biolink:Disease	coloboma of eye lens		GARD:0001433|Orphanet:98943	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020355	Orphanet:98943	ordo_morphological_anomaly|gard_rare
MONDO:0007399	biolink:Disease	TWIST1-related craniosynostosis	Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene.	SCTID:57219006|OMIM:123100|UMLS:CN029978	mondo.json	craniosynostosis type 1|craniostenosis|CRS|TWIST1-related craniosynostosis|craniosynostosis 1|CRS1	http://purl.obolibrary.org/obo/MONDO_0007399	UMLS:CN029978|http://identifiers.org/snomedct/57219006|https://omim.org/entry/123100	
MONDO:0020354	biolink:Disease	coloboma of choroid and retina	Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.	Orphanet:98942|GARD:0001432|SCTID:39302008	mondo.json	choroidal coloboma|retinal coloboma|retinochoroidal coloboma	http://purl.obolibrary.org/obo/MONDO_0020354	Orphanet:98942|http://identifiers.org/snomedct/39302008	ordo_morphological_anomaly
MONDO:0020353	biolink:Disease	von Hippel anomaly		Orphanet:98941	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020353	Orphanet:98941	ordo_malformation_syndrome
MONDO:0007397	biolink:Disease	craniometaphyseal dysplasia, autosomal dominant		OMIM:123000|MESH:C565145|UMLS:C1852502|GARD:0001581	mondo.json	CMDD|craniometaphyseal dysplasia, Jackson type|craniometaphyseal dysplasia Jackson type|craniometaphyseal dysplasia, autosomal dominant|CMD|CMDJ	http://purl.obolibrary.org/obo/MONDO_0007397	http://identifiers.org/mesh/C565145|UMLS:C1852502|https://omim.org/entry/123000	
MONDO:0007398	biolink:Disease	craniorhiny		Orphanet:157832|MESH:C565144|OMIM:123050|UMLS:C1852501	mondo.json	craniorhiny	http://purl.obolibrary.org/obo/MONDO_0007398	http://identifiers.org/mesh/C565144|Orphanet:157832|UMLS:C1852501|https://omim.org/entry/123050	ordo_malformation_syndrome
MONDO:0020352	biolink:Disease	multiple system atrophy, parkinsonian type	Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability).	ICD10CM:G23.2|UMLS:CN207200|Orphanet:98933	mondo.json	MSA-p|MSA, parkinsonian type	http://purl.obolibrary.org/obo/MONDO_0020352	UMLS:CN207200|Orphanet:98933	ordo_clinical_subtype
MONDO:0007395	biolink:Disease	craniofacial-deafness-hand syndrome	Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features.	OMIM:122880|Orphanet:1529|SCTID:702362004|DOID:0111336|MESH:C536453|GARD:0001571|ICD9:759.89	mondo.json	Sommer-Young-Wee-Frye syndrome|craniofacial deafness hand syndrome|features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss|craniofacial-deafness-hand syndrome|CDHS	http://purl.obolibrary.org/obo/MONDO_0007395	Orphanet:1529|https://omim.org/entry/122880|DOID:0111336|http://identifiers.org/mesh/C536453|http://identifiers.org/snomedct/702362004	gard_rare|ordo_malformation_syndrome
MONDO:0020351	biolink:Disease	Blake pouch cyst	Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development.	Orphanet:98922	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020351	Orphanet:98922	ordo_morphological_anomaly
MONDO:0020350	biolink:Disease	obsolete Miller-Fisher syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020350		
MONDO:0007396	biolink:Disease	dysostosis, Stanescu type	Stanescu type dysostosis is a rare form of osteosclerosis.	Orphanet:1798|GARD:0002016|OMIM:122900|MESH:C562974|SCTID:254124008|UMLS:C0432263	mondo.json	craniofacial dysostosis with diaphyseal hyperplasia|craniofacial dysostosis-diaphyseal hyperplasia syndrome|Stanescu osteosclerosis|osteosclerosis, Stanescu type|autosomal dominant osteosclerosis, Stanescu type|dysostosis Stanescu type	http://purl.obolibrary.org/obo/MONDO_0007396	http://identifiers.org/snomedct/254124008|Orphanet:1798|https://omim.org/entry/122900|UMLS:C0432263|http://identifiers.org/mesh/C562974	ordo_malformation_syndrome
MONDO:0007393	biolink:Disease	cranioacrofacial syndrome		MESH:C565147|UMLS:C1852512|Orphanet:1339|OMIM:122850	mondo.json	Cranioacrofacial syndrome	http://purl.obolibrary.org/obo/MONDO_0007393	http://identifiers.org/mesh/C565147|https://omim.org/entry/122850|UMLS:C1852512|Orphanet:1339	
MONDO:0007394	biolink:Disease	obsolete craniodiaphyseal dysplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007394		
MONDO:0007391	biolink:Disease	coxa vara	Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental.	EFO:1001298|HP:0002812|GARD:0008750|MESH:D060905|OMIM:122750	mondo.json	coxa vara, congenital|coxa vara (disease)|coxa vara	http://purl.obolibrary.org/obo/MONDO_0007391	http://identifiers.org/mesh/D060905|https://omim.org/entry/122750	
MONDO:0007392	biolink:Disease	coxoauricular syndrome	Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.	UMLS:C1852513|SCTID:732248005|GARD:0001558|Orphanet:1508|OMIM:122780|MESH:C565148	mondo.json	coxoauricular syndrome	http://purl.obolibrary.org/obo/MONDO_0007392	https://omim.org/entry/122780|UMLS:C1852513|http://identifiers.org/snomedct/732248005|http://identifiers.org/mesh/C565148|Orphanet:1508	gard_rare|ordo_malformation_syndrome
MONDO:0007390	biolink:Disease	coumarin resistance		UMLS:CN078029|SCTID:726543008|OMIM:122700|GARD:0012639|MESH:C563039|GARD:0012721|UMLS:C0750384	mondo.json	coumarin, poor metabolism of|coumarin sensitivity|warfarin resistance|coumarin resistance|warfarin sensitivity	http://purl.obolibrary.org/obo/MONDO_0007390	UMLS:C0750384|http://identifiers.org/mesh/C563039|UMLS:CN078029|http://identifiers.org/snomedct/726543008|https://omim.org/entry/122700	
MONDO:0020349	biolink:Disease	acute motor axonal neuropathy	Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-BarrC) syndrome (GBS).	SCTID:715770009|NCIT:C116929|UMLS:C3890941|Orphanet:98918|UMLS:CN207196	mondo.json	AMAN|acute pure motor Guillain-Barre syndrome|acute pure motor Guillain-Barré syndrome|acute pure motor GBS	http://purl.obolibrary.org/obo/MONDO_0020349	Orphanet:98918|UMLS:CN207196|NCIT:C116929|http://identifiers.org/snomedct/715770009|UMLS:C3890941	ordo_disease
MONDO:0020348	biolink:Disease	acute motor and sensory axonal neuropathy	Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-BarrC) syndrome (GBS).	NCIT:C116927|SCTID:716722005|Orphanet:98917|UMLS:CN207195	mondo.json	acute motor-sensory axonal GBS|AMSAN|acute motor-sensory axonal Guillain-BarrC) syndrome|acute motor-sensory axonal neuropathy|acute motor-sensory axonal Guillain-Barré syndrome	http://purl.obolibrary.org/obo/MONDO_0020348	UMLS:CN207195|NCIT:C116927|Orphanet:98917|http://identifiers.org/snomedct/716722005	ordo_disease
MONDO:0020347	biolink:Disease	acute inflammatory demyelinating polyradiculoneuropathy	An inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barre syndrome (GBS).	NCIT:C116926|Orphanet:98916|UMLS:CN207194	mondo.json	acute inflammatory polyneuropathy|acute inflammatory demyelinating polyradiculopathy|GBS, acute inflammatory demyelinating polyradiculoneuropathic form|AIDP|Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form|acute idiopathic demyelinating polyneuropathy|Guillain-Barre syndrome, acute inflammatory demyelinating polyradiculoneuropathic form	http://purl.obolibrary.org/obo/MONDO_0020347	Orphanet:98916|UMLS:CN207194|NCIT:C116926	ordo_disease
GO:0044877	biolink:NamedThing	protein-containing complex binding	Binding to a macromolecular complex.		mondo.json	protein complex binding|macromolecular complex binding	http://purl.obolibrary.org/obo/GO_0044877		
MONDO:0019368	biolink:Disease	florid cemento-osseous dysplasia	Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw.	SCTID:715634002|OMIM:137575|MESH:C537063|ICDO:9275/0|UMLS:C0555197|ICD10CM:D16.5|Orphanet:83451|GARD:0010173|NCIT:C8381	mondo.json	focal cemento-osseous dysplasia|florid osseous dysplasia|Gigantiform cementoma	http://purl.obolibrary.org/obo/MONDO_0019368	UMLS:C0555197|http://identifiers.org/mesh/C537063|NCIT:C8381|http://identifiers.org/snomedct/715634002|Orphanet:83451	gard_rare|ordo_disease
MONDO:0034943	biolink:Disease	obsolete isolated vitreoretinopathy		Orphanet:519304	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034943	Orphanet:519304	
MONDO:0019367	biolink:Disease	regional odontodysplasia	Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues.	MESH:D018126|Orphanet:83450|SCTID:66063001	mondo.json	ghost teeth	http://purl.obolibrary.org/obo/MONDO_0019367	http://identifiers.org/mesh/D018126|Orphanet:83450|http://identifiers.org/snomedct/66063001	ordo_disease
MONDO:0019369	biolink:Disease	complex regional pain syndrome	Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb.	UMLS:C0458219|MESH:D020918|Orphanet:83452|MedDRA:10064332|GARD:0004647|DOID:3223|SCTID:128200000	mondo.json	reflex sympathetic dystrophy|CRPS|Complex regional pain syndromes	http://purl.obolibrary.org/obo/MONDO_0019369	http://identifiers.org/mesh/D020918|http://identifiers.org/snomedct/128200000|UMLS:C0458219|DOID:3223|Orphanet:83452	ordo_disease|gard_rare
MONDO:0019364	biolink:Disease	pseudotyphus of California	Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar. lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise.	Orphanet:83316|SCTID:764104003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019364	Orphanet:83316|http://identifiers.org/snomedct/764104003	ordo_disease
MONDO:0019363	biolink:Disease	obsolete murine typhus			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019363		
MONDO:0019366	biolink:Disease	free sialic acid storage disease	Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).	UMLS:CN206051|UMLS:C2931872|MedDRA:10067531|Orphanet:834|GARD:0010870|MESH:C538523|MedDRA:10067529	mondo.json	free sialic acid storage disease	http://purl.obolibrary.org/obo/MONDO_0019366	http://identifiers.org/mesh/C538523|UMLS:CN206051|Orphanet:834|UMLS:C2931872	ordo_disease
MONDO:0019365	biolink:Disease	scrub typhus	Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious.	ICD9:081.2|EFO:0007480|UMLS:C0036472|MedDRA:10039766|MESH:D012612|SCTID:271425001|DOID:13371|Orphanet:83317	mondo.json	Kedani fever|chigger-borne typhus|chigger-borne rickettsiosis|tropical typhus|tsutsugamushi fever|tsutsugamushi|Mite-borne rickettsiosis|Japanese river fever|scrub (mite-borne) typhus|scrub mite-borne typhus|typhus fever due to Rickettsia tsutsugamushi|Mite-borne typhus|tsutsugamushi disease	http://purl.obolibrary.org/obo/MONDO_0019365	DOID:13371|http://identifiers.org/mesh/D012612|UMLS:C0036472|Orphanet:83317|http://identifiers.org/snomedct/271425001	ordo_disease
MONDO:0019351	biolink:Disease	isolated spina bifida	A spina bifida (disease) that is not part of a larger syndrome.	Orphanet:823|OMIM:182940|MedDRA:10041524|GARD:0007673	mondo.json	isolated spina bifida (disease)|cleft spine|open spine|nonsyndromic spina bifida (disease)	http://purl.obolibrary.org/obo/MONDO_0019351	Orphanet:823	disease_grouping|ordo_group_of_disorders
MONDO:0019350	biolink:Disease	hereditary spherocytosis	Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.	SCTID:55995005|MedDRA:10019904|GARD:0006639|ICD10CM:D58.0|MESH:D013103|NCIT:C97074|ICD9:282.0|Orphanet:822|DOID:12971|UMLS:CN206031|UMLS:C0037889	mondo.json	spherocytic anemia|hereditary spherocytosis|congenital spherocytosis|Minkowski Chauffard syndrome|congenital spherocytic hemolytic anemia|Minkowski-Chauffard disease	http://purl.obolibrary.org/obo/MONDO_0019350	http://identifiers.org/mesh/D013103|http://purl.bioontology.org/ontology/ICD10CM/D58.0|Orphanet:822|UMLS:CN206031|UMLS:C0037889|NCIT:C97074|http://identifiers.org/snomedct/55995005|DOID:12971	ordo_disease|gard_rare
GO:0030279	biolink:NamedThing	negative regulation of ossification	Any process that stops, prevents, or reduces the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance.		mondo.json	negative regulation of bone biosynthesis|downregulation of ossification|negative regulation of bone formation|down regulation of ossification|inhibition of ossification|down-regulation of ossification	http://purl.obolibrary.org/obo/GO_0030279		
MONDO:0007368	biolink:Disease	familial benign copper deficiency	Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982.	UMLS:C1852576|SCTID:763531001|GARD:0001522|MESH:C535468|OMIM:121270|Orphanet:1551	mondo.json	familial benign hypocupremia|copper deficiency, familial benign	http://purl.obolibrary.org/obo/MONDO_0007368	UMLS:C1852576|Orphanet:1551|https://omim.org/entry/121270|http://identifiers.org/mesh/C535468|http://identifiers.org/snomedct/763531001	ordo_disease|gard_rare
MONDO:0020346	biolink:Disease	synaptic congenital myasthenic syndrome		Orphanet:98915	mondo.json	synaptic congenital myasthenic syndromes	http://purl.obolibrary.org/obo/MONDO_0020346	Orphanet:98915	ordo_etiological_subtype
MONDO:0007369	biolink:Disease	hereditary coproporphyria	A form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.	Orphanet:79273|SCTID:7425008|GARD:0006619|MESH:D046349|OMIM:121300|NCIT:C84759|MedDRA:10019866|UMLS:C0162531|DOID:13269	mondo.json	Harderoporphyria|Cpox deficiency|coproporphyria, hereditary|hereditary coproporphyria|CPRO deficiency|coproporphyria hereditary|HCP|coproporphyrinogen oxidase deficiency|hereditary coproporphyria porphyria|Cpx deficiency|porphyria hepatica II|coproporphyria|porphyria hepatica coproporphyria|Cpo deficiency	http://purl.obolibrary.org/obo/MONDO_0007369	http://identifiers.org/mesh/D046349|NCIT:C84759|UMLS:C0162531|https://omim.org/entry/121300|http://identifiers.org/snomedct/7425008|DOID:13269|Orphanet:79273	ordo_disease|gard_rare
MONDO:0020345	biolink:Disease	presynaptic congenital myasthenic syndrome		Orphanet:98914	mondo.json	presynaptic congenital myasthenic syndromes	http://purl.obolibrary.org/obo/MONDO_0020345	Orphanet:98914	ordo_etiological_subtype
GO:0042221	biolink:NamedThing	response to chemical	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus.		mondo.json	response to chemical substance|response to chemical stimulus	http://purl.obolibrary.org/obo/GO_0042221		
MONDO:0007366	biolink:Disease	seizures, benign familial neonatal, 2	Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene.	OMIM:121201|UMLS:C1852581	mondo.json	seizures, benign familial neonatal, type 2|BFNS2|seizures, benign neonatal, 2|seizures, benign familial neonatal, 2|KCNQ3 benign neonatal seizures|benign neonatal seizures caused by mutation in KCNQ3|convulsions, benign familial neonatal, 2	http://purl.obolibrary.org/obo/MONDO_0007366	https://omim.org/entry/121201|UMLS:C1852581	
MONDO:0020344	biolink:Disease	postsynaptic congenital myasthenic syndrome		Orphanet:98913	mondo.json	postsynaptic congenital myasthenic syndromes	http://purl.obolibrary.org/obo/MONDO_0020344	Orphanet:98913	ordo_etiological_subtype
MONDO:0007367	biolink:Disease	febrile seizures, familial, 1		UMLS:C1852577|ICD9:780.39|OMIM:121210|SCTID:230432008|DOID:0111307|MESH:C565162	mondo.json	febrile seizures, familial, 1|convulsions, familial febrile|FEB1|convulsions, familial febrile, 1	http://purl.obolibrary.org/obo/MONDO_0007367	http://identifiers.org/snomedct/230432008|http://identifiers.org/mesh/C565162|https://omim.org/entry/121210|DOID:0111307|UMLS:C1852577	
MONDO:0020343	biolink:Disease	alpha-crystallinopathy		Orphanet:98910	mondo.json	CRYAB-related myofobrillar myopathy	http://purl.obolibrary.org/obo/MONDO_0020343	Orphanet:98910	ordo_group_of_disorders|disease_grouping
MONDO:0020342	biolink:Disease	congenital myopathy with excess of thin filaments		MESH:C579880|OMIM:161800|Orphanet:98904	mondo.json	actin myopathy	http://purl.obolibrary.org/obo/MONDO_0020342	http://identifiers.org/mesh/C579880|Orphanet:98904	ordo_disease
MONDO:0007364	biolink:Disease	arthrogryposis, distal, type 2E		UMLS:C1852597|OMIM:121070|MESH:C535384	mondo.json	arthrogryposis, distal, type 2E|contractures of fingers and jaw	http://purl.obolibrary.org/obo/MONDO_0007364	https://omim.org/entry/121070|http://identifiers.org/mesh/C535384|UMLS:C1852597	
MONDO:0007365	biolink:Disease	seizures, benign familial neonatal, 1	Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene.	OMIM:121200|UMLS:C3149074|MESH:C567743	mondo.json	seizures, benign familial neonatal, 1, and/or myokymia|epilepsy, benign neonatal, 1, and/or myokymia|myokymia|seizures, benign familial neonatal, type 1|BFNS1|KCNQ2 benign neonatal seizures|seizures, benign familial neonatal, 1|seizures, benign neonatal, 1|benign neonatal seizures caused by mutation in KCNQ2	http://purl.obolibrary.org/obo/MONDO_0007365	UMLS:C3149074|http://identifiers.org/mesh/C567743|https://omim.org/entry/121200	
MONDO:0020341	biolink:Disease	periventricular nodular heterotopia	Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.	UMLS:C1868720|DOID:0050454|Orphanet:98892|MESH:D054091|MedDRA:10066854|GARD:0012724|OMIMPS:300049	mondo.json	periventricular heterotopia|periventricular nodular heterotopia	http://purl.obolibrary.org/obo/MONDO_0020341	DOID:0050454|Orphanet:98892|UMLS:C1868720|https://omim.org/phenotypicSeries/PS300049|http://identifiers.org/mesh/D054091	ordo_clinical_subtype
MONDO:0007362	biolink:Disease	cone-rod dystrophy 2	Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene.	UMLS:CN074280|OMIM:120970|ICD9:362.75|DOID:0111005|GARD:0006145|SCTID:80328002	mondo.json	cone-rod retinal dystrophy-2|cone-rod retinal dystrophy 2|cone-rod dystrophy 2|CRX cone-rod dystrophy|cone-rod retinal dystrophy|retinal cone-rod dystrophy 2|cone-rod dystrophy|retinal cone-rod dystrophy|cone-rod dystrophy caused by mutation in CRX|CORD2|cone-rod dystrophy type 2|RCRD2|CRD2	http://purl.obolibrary.org/obo/MONDO_0007362	UMLS:CN074280|DOID:0111005|http://identifiers.org/snomedct/80328002|https://omim.org/entry/120970	
MONDO:0020340	biolink:Disease	bilateral perisylvian polymicrogyria		GARD:0006011|Orphanet:98889	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020340	Orphanet:98889	ordo_clinical_subtype
MONDO:0007363	biolink:Disease	congenital contractural arachnodactyly	Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.	DOID:0111595|ICD9:759.89|NCIT:C129865|SCTID:205821003|GARD:0005899|UMLS:C0220668|OMIM:121050|MESH:C536211|Orphanet:115	mondo.json	contractures, multiple with arachnodactyly|CCA|arthrogryposis, distal, type 9|distal arthrogryposis type 9|DA9|CCA syndrome|arachnodactyly, contractural Beals type|contractural arachnodactyly, congenital|Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis|Beals syndrome|Beals-Hecht syndrome	http://purl.obolibrary.org/obo/MONDO_0007363	http://identifiers.org/snomedct/205821003|Orphanet:115|http://identifiers.org/mesh/C536211|https://omim.org/entry/121050|NCIT:C129865|DOID:0111595|UMLS:C0220668	ordo_malformation_syndrome
MONDO:0007360	biolink:Disease	branchiootic syndrome 2		OMIM:120502|UMLS:C1852718|MESH:C565171	mondo.json	bo syndrome 2|branchiootic syndrome 2|branchiootic syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0007360	http://identifiers.org/mesh/C565171|https://omim.org/entry/120502|UMLS:C1852718	
MONDO:0007361	biolink:Disease	C1 inhibitor deficiency		OMIM:120790|DOID:0060002|UMLS:C1852700|Orphanet:169147|Orphanet:459353	mondo.json	complement component 4, partial deficiency OF	http://purl.obolibrary.org/obo/MONDO_0007361	Orphanet:459353|DOID:0060002|https://omim.org/entry/120790|UMLS:C1852700	ordo_disease
MONDO:0020339	biolink:Disease	X-linked complex spastic paraplegia		Orphanet:98888	mondo.json	Complex X-linked SPG|Complex X-linked HSP|X-linked complicated spastic paraplegia|complicated X-linked SPG|complicated X-linked HSP	http://purl.obolibrary.org/obo/MONDO_0020339	Orphanet:98888	disease_grouping|ordo_group_of_disorders
MONDO:0020338	biolink:Disease	adult pure red cell aplasia	Adult pure red cell aplasia is a rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms.	GARD:0010898|SCTID:765748009|NCIT:C70548|Orphanet:98872|UMLS:C0340961	mondo.json	idiopathic pure red cell aplasia|acquired pure red cell aplasia|pure red-cell aplasia of adults|adult pure red-cell aplasia|acquired PRCA	http://purl.obolibrary.org/obo/MONDO_0020338	Orphanet:98872|UMLS:C0340961|NCIT:C70548|http://identifiers.org/snomedct/765748009	ordo_disease
MONDO:0020337	biolink:Disease	congenital dyserythropoietic anemia type 1	Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.	Orphanet:98869|GARD:0002000|SCTID:59548005|DOID:0111396	mondo.json	CDA type 1|CDA I|congenital dyserythropoietic anemia type 1|anemia, dyserythropoietic, congenital type 1|CDA type I|dyserythropoietic anemia, congenital type 1|type I congenital dyserythropoietic anemia	http://purl.obolibrary.org/obo/MONDO_0020337	Orphanet:98869|DOID:0111396|http://identifiers.org/snomedct/59548005	ordo_disease
MONDO:0020336	biolink:Disease	autosomal dominant Emery-Dreifuss muscular dystrophy	Autosomal dominant form of Emery-Dreifuss muscular dystrophy.	UMLS:C0410190|Orphanet:98853|GARD:0002101|OMIM:181350	mondo.json	Emery-Dreifuss muscular dystrophy, autosomal dominant|EDMD2|autosomal dominant Emery-Dreifuss muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0020336	Orphanet:98853	ordo_etiological_subtype|gard_rare
MONDO:0019357	biolink:Disease	congenital narrowing of cervical spinal canal	Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (saggital diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances.	Orphanet:831	mondo.json	congenital cervical spinal stenosis|congenital stenosis of the cervical spine	http://purl.obolibrary.org/obo/MONDO_0019357	Orphanet:831	ordo_disease
MONDO:0022998	biolink:Disease	distal arthrogryposis Moore weaver type		MESH:C536814|UMLS:C2931342	mondo.json	Moore Weaver syndrome	http://purl.obolibrary.org/obo/MONDO_0022998	http://identifiers.org/mesh/C536814|UMLS:C2931342	
MONDO:0034954	biolink:Disease	syndromic vitreoretinopathy		Orphanet:519327	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034954	Orphanet:519327	ordo_group_of_disorders
MONDO:0034953	biolink:Disease	obsolete syndromic inherited retinal disorder		Orphanet:519325	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034953	Orphanet:519325	
MONDO:0019356	biolink:Disease	urogenital tract malformation		ICD10CM:Q60-Q64|Orphanet:83001	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019356	http://purl.bioontology.org/ontology/ICD10CM/Q60-Q64|Orphanet:83001	ordo_group_of_disorders|disease_grouping
GO:0030278	biolink:NamedThing	regulation of ossification	Any process that modulates the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance.		mondo.json	regulation of bone formation|regulation of bone biosynthesis	http://purl.obolibrary.org/obo/GO_0030278		
MONDO:0022999	biolink:Disease	distichiasis heart congenital anomalies		GARD:0001890	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022999		gard_rare
HGNC:20603	biolink:NamedThing	DHDDS			mondo.json		http://identifiers.org/hgnc/20603		
MONDO:0019359	biolink:Disease	Rocky mountain spotted fever	Rocky Mountain spotted fever refers to an infection caused by the bacterium Rickettsia rickettsia. This particular bacterium is carried by certain species of ticks and spread to humans through the bites of infected ticks. Signs and symptoms of the condition generally develop approximately 2 to 14 days following the tick bite and may include fever, rash, headache, muscle pain, chills, and/or confusion. Some affected people may also experience diarrhea, nausea, vomiting, light sensitivity, hallucinations, and/or excessive thirst. Most cases occur in the spring and summer and are found in children. Risk factors for developing the conditioninclude recent hiking or exposure to ticks in an area where the disease is known to occur. Rocky Mountain spotted fever is typically treated with antibiotics (such as doxycycline or tetracycline).	DOID:0050052|GARD:0007585|SCTID:186772009|MedDRA:10039207|NCIT:C128410|Orphanet:83311|MESH:D012373|UMLS:C0035793	mondo.json	Choix|So Paulo fever|Brazillian spotted|Fiebre maculosa|sao Paulo typhus|Tobia fever|RMSF|Tick typhus|exanthematic typhus of sao Paulo|Fiebre manchada	http://purl.obolibrary.org/obo/MONDO_0019359	DOID:0050052|http://identifiers.org/mesh/D012373|NCIT:C128410|Orphanet:83311|http://identifiers.org/snomedct/186772009|UMLS:C0035793	gard_rare|ordo_disease
MONDO:0019358	biolink:Disease	encephalopathy due to sulfite oxidase deficiency	Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.	Orphanet:833|UMLS:C4275019|SCTID:715980003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019358	Orphanet:833|http://identifiers.org/snomedct/715980003|UMLS:C4275019	ordo_disease
MONDO:0019353	biolink:Disease	Stargardt disease	Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.	NCIT:C85078|Orphanet:827|UMLS:C1855465|ICD10CM:H35.5|UMLS:C0271093|MESH:D000080362|DOID:0050817|SCTID:47673003|MedDRA:10062766|GARD:0000181	mondo.json	juvenile onset macular degeneration|Stargardt 1|fundus flavimaculatus|Stargardt macular dystrophy|Stargardt disease 1	http://purl.obolibrary.org/obo/MONDO_0019353	UMLS:C0271093|http://identifiers.org/snomedct/47673003|DOID:0050817|UMLS:C1855465|Orphanet:827|NCIT:C85078|http://identifiers.org/mesh/D000080362	ordo_disease|gard_rare
MONDO:0019352	biolink:Disease	obsolete sporotrichosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019352		
MONDO:0019355	biolink:Disease	adult-onset Still disease	A rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash.	DOID:14256|UMLS:C0043195|ICD9:759.89|GARD:0000436|SCTID:239920006|MedDRA:10064056|SCTID:68190001|MESH:D016706|UMLS:C0085253|Orphanet:829|MESH:D014924|UMLS:CN206037|EFO:0007135|ICD9:714.2|MedDRA:10058493	mondo.json	AOSD|Wissler-Fanconi syndrome|adult onset Still's disease|Still's disease adult onset|adult-onset Still's disease|adult Still's disease|adult-onset Still disease	http://purl.obolibrary.org/obo/MONDO_0019355	http://identifiers.org/mesh/D016706|UMLS:C0085253|DOID:14256|UMLS:CN206037|Orphanet:829|http://identifiers.org/snomedct/239920006|http://identifiers.org/snomedct/68190001	ordo_disease|gard_rare
MONDO:0019354	biolink:Disease	Stickler syndrome	Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases).	ICD9:759.89|Orphanet:828|SCTID:78675000|UMLS:C0265253|DOID:0080046|GARD:0010782|OMIMPS:108300|NCIT:C74984|MedDRA:10063402	mondo.json	hereditary progressive arthroophthalmopathy|Stickler syndrome	http://purl.obolibrary.org/obo/MONDO_0019354	DOID:0080046|UMLS:C0265253|Orphanet:828|NCIT:C74984|http://identifiers.org/snomedct/78675000|https://omim.org/phenotypicSeries/PS108300	ordo_disease
MONDO:0022990	biolink:Disease	diphallus rachischisis imperforate anus		GARD:0001873	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022990		gard_rare
MONDO:0022991	biolink:Disease	diploid-triploid mosaicism	Diploid-triploid mosaicism is a chromosome disorder. Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells). Having two or more different cell types is called mosaicism. Diploid-triploid mosaicism can be associated withtruncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth,mild differences infacial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation. Intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe. The chromosome disorder is usually not present in the blood; a skin biopsy, or analyzing cells in the urine is needed to detect the triploid cells.	UMLS:C0265505|MESH:C548012|SCTID:10177005|GARD:0010715|ICD9:758.89	mondo.json	Mosaic triploidy|Growth retardation, truncal obesity, facial asymmetry, hypotonia, small phallus, malformed low-set ears and micrognathia|diploid/triploid mixoploidy|diploid/triploid mosaicism	http://purl.obolibrary.org/obo/MONDO_0022991	UMLS:C0265505|http://identifiers.org/snomedct/10177005|http://identifiers.org/mesh/C548012	gard_rare
NCBITaxon:42415	biolink:OrganismalEntity	Sigmodon hispidus		GC_ID:1	mondo.json	Sigmodon hispiedis|hispid cotton rat	http://purl.obolibrary.org/obo/NCBITaxon_42415		
MONDO:0019340	biolink:Disease	scleroderma	Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc).	DOID:419|Orphanet:801|NCIT:C26746|MedDRA:10039710|HP:0100324	mondo.json	dermatosclerosis|scleroderma|scleroderma (disease)	http://purl.obolibrary.org/obo/MONDO_0019340	DOID:419|Orphanet:801|NCIT:C26746	disease_grouping|ordo_group_of_disorders
MONDO:0022993	biolink:Disease	dipsogenic diabetes insipidus	Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism.	SCTID:82800008|MESH:C548013|UMLS:C0268813|GARD:0010703|NCIT:C129735	mondo.json	dipsogenic diabetes insipidus|primary polydipsia|Dipsogenic diabetes insipidus	http://purl.obolibrary.org/obo/MONDO_0022993	http://identifiers.org/mesh/C548013|NCIT:C129735|http://identifiers.org/snomedct/82800008|UMLS:C0268813	gard_rare
NCBITaxon:42414	biolink:OrganismalEntity	Sigmodon		GC_ID:1	mondo.json	cotton rats	http://purl.obolibrary.org/obo/NCBITaxon_42414		
MONDO:0007379	biolink:Disease	Meesmann corneal dystrophy	Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision.	SCTID:1674008|UMLS:C0339277|OMIMPS:122100|Orphanet:98954|MESH:D053559|DOID:0060451|NCIT:C84795|GARD:0009688|ICD9:371.51	mondo.json	stocker-Holt dystrophy|Meesmann corneal epithelial dystrophy|corneal dystrophy, Meesmann|corneal dystrophy, juvenile epithelial of Meesmann|MECD|corneal dystrophy, juvenile epithelial, of Meesmann|Meesman dystrophy|juvenile hereditary epithelial dystrophy|juvenile hereditary epithelial dystrophy of Meesmann|corneal dystrophy, Meesmann epithelial|Meesmann corneal dystrophy|juvenile epithelial of Meesmann corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0007379	NCIT:C84795|https://omim.org/phenotypicSeries/PS122100|UMLS:C0339277|http://identifiers.org/snomedct/1674008|Orphanet:98954|http://identifiers.org/mesh/D053559|DOID:0060451	gard_rare|ordo_disease
MONDO:0020335	biolink:Disease	obsolete desquamative interstitial pneumonia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020335		
MONDO:0020334	biolink:Disease	mast cell leukemia	Mast cell leukemia is a malignant form of systemic mastocytosis (SM) characterized, most of the time, by the presence of circulating mast cells.	Orphanet:158799|NCIT:C3169|MESH:D007946|EFO:0007359|UMLS:C0023461|ICDO:9742/3|MedDRA:10056450|Orphanet:98851|SCTID:110002002|DOID:9254|ONCOTREE:SMMCL	mondo.json	SMMCL|mast-cell leukemia|Mast cell leukemia|aleukemic mast cell leukemia	http://purl.obolibrary.org/obo/MONDO_0020334	Orphanet:98851|http://identifiers.org/snomedct/110002002|UMLS:C0023461|http://identifiers.org/mesh/D007946|DOID:9254|NCIT:C3169	ordo_disease|disease_grouping|ordo_group_of_disorders
MONDO:0007377	biolink:Disease	granular corneal dystrophy type I	Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.	UMLS:C1641846|DOID:0080530|MESH:C537304|Orphanet:98962|SCTID:419039007|OMIM:121900|GARD:0009677	mondo.json	GCD1|granular corneal dystrophy type 1|corneal dystrophy Groenouw type I|classic granular corneal dystrophy|Groenouw type I corneal dystrophy|CDGG1|granular corneal dystrophy, type 1|GCDI|corneal dystrophy granular type|corneal dystrophy, Groenouw type I|corneal dystrophy punctate or nodular|corneal dystrophy, Groenouw type 1|classic GCD|corneal dystrophy, punctate or nodular	http://purl.obolibrary.org/obo/MONDO_0007377	http://identifiers.org/snomedct/419039007|http://identifiers.org/mesh/C537304|DOID:0080530|Orphanet:98962|https://omim.org/entry/121900|UMLS:C1641846	ordo_disease
MONDO:0020333	biolink:Disease	aggressive systemic mastocytosis	Aggressive systemic mastocytosis (ASM) is a severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues.	DOID:4798|UMLS:C1112486|NCIT:C9285|MedDRA:10056453|SCTID:716655008|Orphanet:98850|ICDO:9741/3|ONCOTREE:ASM	mondo.json	lymphadenopathic mastocytosis with eosinophilia|aggressive systemic mastocytosis (morphologic abnormality)|ASM	http://purl.obolibrary.org/obo/MONDO_0020333	NCIT:C9285|Orphanet:98850|DOID:4798|UMLS:C1112486|http://identifiers.org/snomedct/716655008	ordo_disease
MONDO:0020332	biolink:Disease	systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease	Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia).	SCTID:397015000|DOID:4797|NCIT:C9284|EFO:1000559|ICDO:9741/3|ONCOTREE:SMAHN|Orphanet:98849	mondo.json	systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease|systemic mastocytosis with an associated hematological neoplasm (SM-AHN)|SM-AHN|systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease|systemic mastocytosis with an associated hematological neoplasm|systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality)|systemic mastocytosis with associated clonal haematological non-mast cell lineage disease|SM-AHNMD|SMAHN|systemic mastocytosis with associated hematologic neoplasm	http://purl.obolibrary.org/obo/MONDO_0020332	NCIT:C9284|http://identifiers.org/snomedct/397015000|Orphanet:98849|DOID:4797	ordo_disease
MONDO:0007378	biolink:Disease	posterior polymorphous corneal dystrophy 1	A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.	OMIM:122000|SCTID:29504002|ICD9:371.58|DOID:0110855|UMLS:CN029625	mondo.json	corneal dystrophy, hereditary polymorphous posterior|corneal dystrophy, POSTERIOR polymorphous, 1|Ppcd1|posterior polymorphous corneal dystrophy|corneal endothelial dystrophy 1, autosomal dominant|corneal endothelial dystrophy 1, autosomal dominant, formerly|Ched1|Maumenee corneal dystrophy|corneal dystrophy, posterior polymorphous, type 1|posterior polymorphous corneal dystrophy type 1|PPCD1	http://purl.obolibrary.org/obo/MONDO_0007378	http://identifiers.org/snomedct/29504002|UMLS:CN029625|https://omim.org/entry/122000|DOID:0110855	
MONDO:0007375	biolink:Disease	epithelial basement membrane dystrophy		DOID:0060447|Orphanet:98956|OMIM:121820|SCTID:373426005|GARD:0009732|MESH:C535477	mondo.json	corneal dystrophy, anterior basement Membrane|microcystic corneal dystrophy|Cogan corneal dystrophy|corneal dystrophy, Map-Dot-Fingerprint type|anterior basement membrane dystrophy|epithelial basement membrane corneal dystrophy|corneal dystrophy, epithelial basement MEMBRANE|microcystic dystrophy of the cornea|corneal dystrophy, microcystic|EBMD|Map-dot-fingerprint dystrophy of cornea|Map-dot-fingerprint dystrophy|Cogan microcystic epithelial dystrophy	http://purl.obolibrary.org/obo/MONDO_0007375	http://identifiers.org/snomedct/373426005|Orphanet:98956|http://identifiers.org/mesh/C535477|https://omim.org/entry/121820|DOID:0060447	ordo_disease
NCBITaxon:862507	biolink:OrganismalEntity	Mus <subgenus>		GC_ID:1	mondo.json	Mus	http://purl.obolibrary.org/obo/NCBITaxon_862507		
MONDO:0020331	biolink:Disease	indolent systemic mastocytosis	Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis (SM) characterized by an abnormal proliferation of mast cells either only in bone marrow or in numerous tissues.	MedDRA:10056452|UMLS:C0272203|ONCOTREE:ISM|DOID:4660|SCTID:70910003|NCIT:C9286|ICDO:9741/1|Orphanet:98848	mondo.json	indolent systemic mastocytosis (morphologic abnormality)|ism	http://purl.obolibrary.org/obo/MONDO_0020331	Orphanet:98848|DOID:4660|UMLS:C0272203|http://identifiers.org/snomedct/70910003|NCIT:C9286	ordo_disease
MONDO:0007376	biolink:Disease	fleck corneal dystrophy	Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.	DOID:0060448|ICD9:371.56|UMLS:C1562113|SCTID:417183007|OMIM:121850|Orphanet:98970|MESH:C563256	mondo.json	FCD|fleck corneal dystrophy|Cfd|Francois-Neetens speckled corneal dystrophy|François-Neetens speckled corneal dystrophy|corneal dystrophy, Francois-Neetens speckled or flecked|FranC'ois-Neetens speckled corneal dystrophy|corneal fleck dystrophy|corneal dystrophy, FLECK	http://purl.obolibrary.org/obo/MONDO_0007376	http://identifiers.org/snomedct/417183007|Orphanet:98970|https://omim.org/entry/121850|http://identifiers.org/mesh/C563256|DOID:0060448|UMLS:C1562113	ordo_disease
MONDO:0020330	biolink:Disease	obsolete classic Hodgkin lymphoma, lymphocyte-depleted type			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020330		
MONDO:0007373	biolink:Disease	corneal degeneration, ribbonlike, with deafness		OMIM:121450|MESH:C565157|UMLS:C1852556	mondo.json	band keratopathy with deafness|corneal degeneration, ribbonlike, with deafness	http://purl.obolibrary.org/obo/MONDO_0007373	http://identifiers.org/mesh/C565157|https://omim.org/entry/121450|UMLS:C1852556	
MONDO:0007374	biolink:Disease	Schnyder corneal dystrophy	Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.	DOID:0060456|Orphanet:98967|MESH:C535475|OMIM:121800|SCTID:419395007|GARD:0009277	mondo.json	corneal dystrophy crystalline of Schnyder|Schnyder crystalline dystrophy sine crystals|corneal dystrophy, crystalline, of Schnyder|Schnyder corneal dystrophy|SCCD|crystalline stromal dystrophy|hereditary crystalline stromal dystrophy of Schnyder|corneal dystrophy, Schnyder type|Schnyder crystalline corneal dystrophy|SCD|corneal dystrophy, Schnyder	http://purl.obolibrary.org/obo/MONDO_0007374	Orphanet:98967|http://identifiers.org/snomedct/419395007|https://omim.org/entry/121800|http://identifiers.org/mesh/C535475|DOID:0060456	ordo_disease
MONDO:0007371	biolink:Disease	cornea guttata with anterior polar cataracts		UMLS:C1852558|GARD:0009507|OMIM:121390|MESH:C535471	mondo.json	cornea guttata with anterior polar cataract|cornea guttata with anterior polar cataracts|familial congenital cornea guttata with anterior polar cataracts (type)	http://purl.obolibrary.org/obo/MONDO_0007371	https://omim.org/entry/121390|http://identifiers.org/mesh/C535471|UMLS:C1852558	
MONDO:0007372	biolink:Disease	cornea plana 1, autosomal dominant		MESH:C565158|UMLS:C1852557|OMIM:121400	mondo.json	cornea plana 1, autosomal dominant|CNA1|cornea plana 1	http://purl.obolibrary.org/obo/MONDO_0007372	http://identifiers.org/mesh/C565158|https://omim.org/entry/121400|UMLS:C1852557	
MONDO:0007370	biolink:Disease	coracoclavicular joint, anomalous		OMIM:121350|MESH:C565161	mondo.json	coracoclavicular joint, anomalous	http://purl.obolibrary.org/obo/MONDO_0007370	http://identifiers.org/mesh/C565161|https://omim.org/entry/121350	
MONDO:0020329	biolink:Disease	obsolete classic Hodgkin lymphoma, lymphocyte-rich type			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020329		
MONDO:0020328	biolink:Disease	obsolete classic Hodgkin lymphoma, mixed cellularity type			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020328		
MONDO:0019349	biolink:Disease	Sotos syndrome	Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.	UMLS:CN239475|GARD:0010091|Orphanet:821|UMLS:C0175695|MedDRA:10064387|MESH:D058495|NCIT:C75019|DOID:14748|DECIPHER:17|OMIMPS:117550	mondo.json	Sotos' syndrome|Sotos syndrome|cerebral gigantism syndrome|distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development|cerebral gigantism	http://purl.obolibrary.org/obo/MONDO_0019349	http://identifiers.org/mesh/D058495|UMLS:CN239475|UMLS:C0175695|NCIT:C75019|https://omim.org/phenotypicSeries/PS117550|Orphanet:821|DOID:14748	ordo_disease
MONDO:0020327	biolink:Disease	classic Hodgkin lymphoma, nodular sclerosis type		Orphanet:98843	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020327	Orphanet:98843	ordo_histopathological_subtype
MONDO:0020326	biolink:Disease	lymphomatoid papulosis	Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL) with which it shares overlapping clinical and histopathologic features.	SCTID:31047003|ICDO:9718/1|MESH:D017731|EFO:1000341|GARD:0006944|Orphanet:98842|ONCOTREE:LYP|ICD9:447.8|MedDRA:10056670|NCIT:C3721|UMLS:C0206182	mondo.json	LyP|LYP	http://purl.obolibrary.org/obo/MONDO_0020326	NCIT:C3721|UMLS:C0206182|Orphanet:98842|http://identifiers.org/snomedct/31047003|http://identifiers.org/mesh/D017731	ordo_disease|gard_rare
MONDO:0020325	biolink:Disease	anaplastic large cell lymphoma	Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL.	NCIT:C3720|HGNC:427|ICD9:200.60|DOID:0050744|ICD9:200.6|UMLS:C0206180|ICDO:9714/3|ONCOTREE:ALCL|Orphanet:98841|GARD:0003112|EFO:0003032|MESH:D017728|SCTID:277637000	mondo.json	CD30 positive anaplastic large cell lymphoma|ALCL|Ki-1+ ALCL|anaplastic large cell lymphoma|Ki-1 lymphoma|Ki-1+ anaplastic large cell lymphoma|CD30 Positive anaplastic large cell lymphoma|primary systemic ALCL|Ki-1 positive anaplastic large cell lymphoma|sACL	http://purl.obolibrary.org/obo/MONDO_0020325	NCIT:C3720|UMLS:C0206180|Orphanet:98841|DOID:0050744|http://identifiers.org/mesh/D017728|http://identifiers.org/snomedct/277637000	gard_rare|ordo_disease
NCBITaxon:1437010	biolink:OrganismalEntity	Boreoeutheria		PMID:11743200|PMID:11791233|GC_ID:1	mondo.json	Boreotheria	http://purl.obolibrary.org/obo/NCBITaxon_1437010		
MONDO:0019346	biolink:Disease	sialidosis type 1	Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.	SCTID:34960006|UMLS:CN206021|OMIM:256550|GARD:0007639|UMLS:C0023806|Orphanet:812	mondo.json	cherry red spot myoclonus syndrome|myoclonus cherry red spot syndrome|Normomorphic sialidosis|lipomucopolysaccharidosis|normosomatic sialidosis|sialidosis type I|cherry-red spot-myoclonus syndrome	http://purl.obolibrary.org/obo/MONDO_0019346	Orphanet:812|UMLS:CN206021|UMLS:C0023806|http://identifiers.org/snomedct/34960006	ordo_disease
MONDO:0034965	biolink:Disease	obsolete rare ophthalmic disorder with cranial nerve involvement		Orphanet:519349	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034965	Orphanet:519349	
MONDO:0019345	biolink:Disease	shigellosis	Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts.	GARD:0004818|DOID:12385|MedDRA:10017915|ICD9:004|ICD9:004.3|KEGG:05131|SCTID:36188001|ICD9:004.2|ICD9:004.1|ICD10CM:A03|ICD9:004.0|MESH:D004405|MedDRA:10054178|Orphanet:810|EFO:0005585|ICD9:004.9	mondo.json	flexner's dysentery|Shigella boydii infectious disease|Shigella sonnei infectious disease|shigellosis|japanese dysentery|Shigella gastroenteritis|Shigella flexneri infectious disease|Shigella dysentery|bacillary dysentery	http://purl.obolibrary.org/obo/MONDO_0019345	http://identifiers.org/mesh/D004405|http://purl.bioontology.org/ontology/ICD10CM/A03|Orphanet:810|http://identifiers.org/snomedct/36188001|DOID:12385	gard_rare|ordo_disease
MONDO:0022989	biolink:Disease	diomedi bernardi placidi syndrome		GARD:0001870	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022989		gard_rare
MONDO:0019348	biolink:Disease	obsolete Ehlers-Danlos syndrome with periventricular heterotopia	OBSOLETE. Ehlers-Danlos syndrome (EDS) with periventricular heterotopia is a newly described variant of EDS. Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia (PH), which is characterized by focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurismal dilatation of the sinus of Valsalva.	Orphanet:82004|SCTID:720857006|OMIM:300537|UMLS:C4303790	mondo.json	EDS with periventricular heterotopia	http://purl.obolibrary.org/obo/MONDO_0019348	http://identifiers.org/snomedct/720857006|UMLS:C4303790|Orphanet:82004|https://omim.org/entry/300537	
MONDO:0019347	biolink:Disease	peeling skin syndrome	Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS.	DOID:0060283|Orphanet:817|ICD9:757.39|SCTID:239065004|GARD:0007347|OMIMPS:270300	mondo.json	PSS|familial continuous skin peeling syndrome|keratosis exfoliativa congenita|deciduous skin|idiopathic deciduous skin|familial continuous skin peeling|skin peeling syndrome|peeling skin disease	http://purl.obolibrary.org/obo/MONDO_0019347	http://identifiers.org/snomedct/239065004|https://omim.org/phenotypicSeries/PS270300|Orphanet:817|DOID:0060283	disease_grouping|ordo_group_of_disorders
MONDO:0034962	biolink:Disease	obsolete rare ophthalmic disorder with cortical involvement		Orphanet:519343	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034962	Orphanet:519343	
MONDO:0019342	biolink:Disease	Seckel syndrome	A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance.	OMIMPS:210600|GARD:0008562|ICD9:759.89|DOID:0050569|NCIT:C125488|Orphanet:808|SCTID:57917004|UMLS:C0265202	mondo.json	bird-headed dwarfism|nanocephalic Dwarfism|Seckel-type Dwarfism|SCKL|Harper's syndrome|Virchow-Seckel dwarfism	http://purl.obolibrary.org/obo/MONDO_0019342	http://identifiers.org/snomedct/57917004|UMLS:C0265202|DOID:0050569|Orphanet:808|https://omim.org/phenotypicSeries/PS210600|NCIT:C125488	ordo_malformation_syndrome
MONDO:0034961	biolink:Disease	obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature		Orphanet:519341	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034961	Orphanet:519341	
GO:0030262	biolink:NamedThing	apoptotic nuclear changes	Alterations undergone by nuclei at the molecular and morphological level as part of the execution phase of apoptosis.		mondo.json	apoptotic nuclear change	http://purl.obolibrary.org/obo/GO_0030262		
GO:0030263	biolink:NamedThing	apoptotic chromosome condensation	The compaction of chromatin during apoptosis.		mondo.json	pyknosis	http://purl.obolibrary.org/obo/GO_0030263		
MONDO:0019341	biolink:Disease	obsolete tuberous sclerosis complex			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019341		
MONDO:0019344	biolink:Disease	antisynthetase syndrome	Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS).	SCTID:445187004|Orphanet:81|GARD:0000735|MedDRA:10068801|EFO:1001982|ICD9:279.49|MESH:C537778|UMLS:C2609059	mondo.json	anti-Jo1 syndrome|AS syndrome	http://purl.obolibrary.org/obo/MONDO_0019344	http://identifiers.org/mesh/C537778|UMLS:C2609059|http://identifiers.org/snomedct/445187004|Orphanet:81	ordo_disease|gard_rare
MONDO:0019343	biolink:Disease	obsolete mixed connective tissue disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019343		
GO:0030261	biolink:NamedThing	chromosome condensation	The progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells.		mondo.json	eukaryotic chromosome condensation|DNA condensation|nuclear chromosome condensation	http://purl.obolibrary.org/obo/GO_0030261		
UBERON:0018664	biolink:AnatomicalEntity	neck of bone element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018664		
UBERON:0018667	biolink:AnatomicalEntity	neck of scapula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018667		
UBERON:0004022	biolink:AnatomicalEntity	germinal neuroepithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004022		
UBERON:0006682	biolink:AnatomicalEntity	hypoglossal canal			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006682		
NCBITaxon:6201	biolink:OrganismalEntity	Cyclophyllidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6201		
HGNC:2436	biolink:NamedThing	CSF2RB			mondo.json		http://identifiers.org/hgnc/2436		
NCBITaxon:6202	biolink:OrganismalEntity	Taenia		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6202		
HGNC:32700	biolink:NamedThing	CCDC103			mondo.json		http://identifiers.org/hgnc/32700		
HGNC:19721	biolink:NamedThing	CANT1			mondo.json		http://identifiers.org/hgnc/19721		
NCBITaxon:6200	biolink:OrganismalEntity	Eucestoda		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6200		
HGNC:2433	biolink:NamedThing	CSF1R			mondo.json		http://identifiers.org/hgnc/2433		
HP:0002373	biolink:PhenotypicFeature	Febrile seizure (within the age range of 3 months to 6 years)	A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.	MSH:D003294|UMLS:C0009952|SNOMEDCT_US:41497008	mondo.json	Fever induced seizures|Seizures, febrile, in early childhood|Febrile seizures|Febrile convulsion|Seizures, generalized, associated with fever	http://purl.obolibrary.org/obo/HP_0002373		
UBERON:0004027	biolink:AnatomicalEntity	chorionic plate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004027		
UBERON:0006686	biolink:AnatomicalEntity	spinal vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006686		
NCBITaxon:6209	biolink:OrganismalEntity	Echinococcus		PMID:18180956|PMID:16352465|PMID:18338180|PMID:17156584|PMID:12964823|GC_ID:1|PMID:12377596	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6209		
NCBITaxon:6208	biolink:OrganismalEntity	Taeniidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6208		
HGNC:2439	biolink:NamedThing	CSF3R			mondo.json		http://identifiers.org/hgnc/2439		
UBERON:0006671	biolink:AnatomicalEntity	orbital fat pad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006671		
UBERON:0006670	biolink:AnatomicalEntity	central tendon of diaphragm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006670		
NCBITaxon:6213	biolink:OrganismalEntity	Echinococcus vogeli		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6213		
NCBITaxon:6210	biolink:OrganismalEntity	Echinococcus granulosus		PMID:17156584|PMID:12964823|GC_ID:1|PMID:12377596|PMID:18180956|PMID:16352465|PMID:18338180	mondo.json	Echinococcus granulosus sheep strain|Echinococcus granulosus G1 strain|Echinococcus granulosus G2 strain|Echinococcus granulosus Tasmanian sheep strain|Echinococcus granulosus G3 strain|Echinococcus granulosus buffalo strain|Echinococcus granulosus sensu stricto|Echinococcus granulosus s. s.	http://purl.obolibrary.org/obo/NCBITaxon_6210		
NCBITaxon:6211	biolink:OrganismalEntity	Echinococcus multilocularis		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6211		
UBERON:0004015	biolink:AnatomicalEntity	embryonic-extraembryonic boundary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004015		
HGNC:20716	biolink:NamedThing	KLC2			mondo.json		http://identifiers.org/hgnc/20716		
UBERON:0004016	biolink:AnatomicalEntity	dermatome			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004016		
UBERON:0006677	biolink:AnatomicalEntity	surface of epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006677		
HP:0002383	biolink:PhenotypicFeature	Infectious encephalitis	A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity.	SNOMEDCT_US:45170000|UMLS:C0014038|MSH:D004660	mondo.json	Brain inflammation	http://purl.obolibrary.org/obo/HP_0002383		
UBERON:0004014	biolink:AnatomicalEntity	labium minora			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004014		
UBERON:0006675	biolink:AnatomicalEntity	venous valve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006675		
CHR:9606-chr9q31.1-q31.3	biolink:NamedThing	9q31.1-q31.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr9q31.1-q31.3		
UBERON:0018649	biolink:AnatomicalEntity	cardiac muscle tissue of ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018649		
NCBITaxon:42461	biolink:OrganismalEntity	Opisthokonta incertae sedis		GC_ID:1	mondo.json	Fungi/Metazoa incertae sedis	http://purl.obolibrary.org/obo/NCBITaxon_42461		
UBERON:0004000	biolink:AnatomicalEntity	tarsal gland acinus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004000		
UBERON:0004001	biolink:AnatomicalEntity	olfactory bulb layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004001		
UBERON:0006661	biolink:AnatomicalEntity	epicranial aponeurosis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006661		
HP:0002354	biolink:PhenotypicFeature	Memory impairment	An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.	MSH:D008569|SNOMEDCT_US:55533009|UMLS:C0233794|UMLS:C0542476|UMLS:C0751295|SNOMEDCT_US:386807006	mondo.json	Memory problems|Memory loss|Poor memory|Memory impairment|Forgetfulness	http://purl.obolibrary.org/obo/HP_0002354		
UBERON:0006660	biolink:AnatomicalEntity	muscular coat			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006660		
HGNC:19706	biolink:NamedThing	ADAMTSL4			mondo.json		http://identifiers.org/hgnc/19706		
NCBITaxon:149546	biolink:OrganismalEntity	Histoplasma capsulatum var. duboisii		GC_ID:1	mondo.json	Histoplasma duboisii	http://purl.obolibrary.org/obo/NCBITaxon_149546		
UBERON:0004008	biolink:AnatomicalEntity	cerebellar plate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004008		
HGNC:2457	biolink:NamedThing	CSNK2A1			mondo.json		http://identifiers.org/hgnc/2457		
UBERON:0006668	biolink:AnatomicalEntity	carotid canal			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006668		
HP:0002352	biolink:PhenotypicFeature	Leukoencephalopathy	This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.	SNOMEDCT_US:22811006|UMLS:C0270612|MSH:D056784	mondo.json		http://purl.obolibrary.org/obo/HP_0002352		
UBERON:0006666	biolink:AnatomicalEntity	great cerebral vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006666		
HGNC:2452	biolink:NamedThing	CSNK1D			mondo.json		http://identifiers.org/hgnc/2452		
HP:0002350	biolink:PhenotypicFeature	Cerebellar cyst		UMLS:C1847762	mondo.json	Cerebellar cysts	http://purl.obolibrary.org/obo/HP_0002350		
UBERON:0006652	biolink:AnatomicalEntity	muscular layer of vagina			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006652		
UBERON:0006650	biolink:AnatomicalEntity	tunica vaginalis testis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006650		
HGNC:19714	biolink:NamedThing	DDHD1			mondo.json		http://identifiers.org/hgnc/19714		
HGNC:2468	biolink:NamedThing	SMC3			mondo.json		http://identifiers.org/hgnc/2468		
UBERON:0006658	biolink:AnatomicalEntity	interphalangeal joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006658		
UBERON:0006657	biolink:AnatomicalEntity	glenoid fossa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006657		
HP:0100957	biolink:PhenotypicFeature	Abnormal renal medulla morphology	Any structural abnormality of the medulla of the kidney.	UMLS:C4021911	mondo.json	Abnormality of the renal medulla	http://purl.obolibrary.org/obo/HP_0100957		
HGNC:2464	biolink:NamedThing	VCAN			mondo.json		http://identifiers.org/hgnc/2464		
HP:0002360	biolink:PhenotypicFeature	Sleep disturbance	An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.	SNOMEDCT_US:53888004|UMLS:C0037317	mondo.json	Sleep disturbances|Sleep dysfunction|Trouble sleeping|Difficulty sleeping	http://purl.obolibrary.org/obo/HP_0002360		
UBERON:0006653	biolink:AnatomicalEntity	glans clitoris			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006653		
HP:0100963	biolink:PhenotypicFeature	Hyperesthesia	Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain.	UMLS:C0020453|MSH:D006941|SNOMEDCT_US:14151009	mondo.json	Hyperaesthesia	http://purl.obolibrary.org/obo/HP_0100963		
MONDO:0007429	biolink:Disease	optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy		GARD:0009897|UMLS:C3276549|OMIM:125250|Orphanet:3212	mondo.json	optic atrophy 1 and deafness|optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy|dominant optic atrophy plus syndrome|optic atrophy plus syndrome	http://purl.obolibrary.org/obo/MONDO_0007429	UMLS:C3276549|https://omim.org/entry/125250	
MONDO:0007427	biolink:Disease	deafness with anhidrotic ectodermal dysplasia		UMLS:C1852279|OMIM:125050|MESH:C565119	mondo.json	deafness with anhidrotic ectodermal dysplasia	http://purl.obolibrary.org/obo/MONDO_0007427	http://identifiers.org/mesh/C565119|UMLS:C1852279|https://omim.org/entry/125050	
MONDO:0007428	biolink:Disease	deafness-craniofacial syndrome	Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.	MESH:C565118|UMLS:C1852278|GARD:0001686|OMIM:125230|SCTID:716245003|Orphanet:3241	mondo.json	deafness-craniofacial syndrome|deafness craniofacial syndrome	http://purl.obolibrary.org/obo/MONDO_0007428	http://identifiers.org/snomedct/716245003|http://identifiers.org/mesh/C565118|UMLS:C1852278|https://omim.org/entry/125230|Orphanet:3241	gard_rare|ordo_malformation_syndrome
MONDO:0007425	biolink:Disease	deafness, sensorineural, with peripheral neuropathy and arterial disease		OMIM:124950|UMLS:C1852280|MESH:C565120	mondo.json	deafness, sensorineural, with peripheral neuropathy and arterial disease	http://purl.obolibrary.org/obo/MONDO_0007425	https://omim.org/entry/124950|http://identifiers.org/mesh/C565120|UMLS:C1852280	
NCBITaxon:6236	biolink:OrganismalEntity	Rhabditida		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6236		
MONDO:0007426	biolink:Disease	deafness, unilateral		OMIM:125000|UMLS:C2607947|MESH:C567079	mondo.json	deafness, unilateral	http://purl.obolibrary.org/obo/MONDO_0007426	UMLS:C2607947|https://omim.org/entry/125000|http://identifiers.org/mesh/C567079	
MONDO:0020401	biolink:Disease	congenital unguarded mitral orifice	Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported.	Orphanet:99060	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020401	Orphanet:99060	ordo_morphological_anomaly
MONDO:0007423	biolink:Disease	deafness, mid-tone neural		MESH:C565122|UMLS:C1852283|OMIM:124700	mondo.json	deafness, mid-tone neural	http://purl.obolibrary.org/obo/MONDO_0007423	http://identifiers.org/mesh/C565122|UMLS:C1852283|https://omim.org/entry/124700	
MONDO:0020400	biolink:Disease	congenital supravalvular mitral ring	Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported.	Orphanet:99059|ICD10CM:Q23.2	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020400	Orphanet:99059	ordo_morphological_anomaly
MONDO:0007424	biolink:Disease	autosomal dominant nonsyndromic hearing loss 1	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene.	MESH:C565121|UMLS:C1852282|DOID:0110541|OMIM:124900	mondo.json	autosomal dominant nonsyndromic deafness type 1|deafness, progressive Low tone|autosomal dominant nonsyndromic deafness caused by mutation in DIAPH1|hereditary low frequency hearing loss 1|LFHL1|autosomal dominant nonsyndromic deafness 1|DFNA1|deafness, autosomal dominant 1|deafness, autosomal dominant 1, with or without thrombocytopenia|autosomal dominant deafness 1|hereditary Low frequency hearing loss|deafness, autosomal dominant type 1|DIAPH1 autosomal dominant nonsyndromic deafness|Konigsmark syndrome	http://purl.obolibrary.org/obo/MONDO_0007424	https://omim.org/entry/124900|http://identifiers.org/mesh/C565121|DOID:0110541|UMLS:C1852282	
MONDO:0007421	biolink:Disease	deafness-ear malformation-facial palsy syndrome	Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant.	SCTID:716243005|MESH:C565123|Orphanet:3232|OMIM:124490	mondo.json	Sellars-Beighton syndrome|deafness, conductive stapedial, with EAR malformation and facial palsy	http://purl.obolibrary.org/obo/MONDO_0007421	http://identifiers.org/mesh/C565123|http://identifiers.org/snomedct/716243005|Orphanet:3232|https://omim.org/entry/124490	ordo_malformation_syndrome
MONDO:0007422	biolink:Disease	keratoderma hereditarium mutilans		GARD:0003092|SCTID:24559001|DOID:0111339|MESH:C536457|Orphanet:494|ICD9:757.39|OMIM:124500	mondo.json	mutilating keratoderma of Vohwinkel|PPK mutilans and deafness|VOWNKL|keratoderma hereditarium mutilans|KHM|mutilating keratoderma plus deafness|Vohwinkel syndrome|mutilating keratoderma|deafness, congenital, with KERATOPACHYDERMIA and constrictions of fingers and toes	http://purl.obolibrary.org/obo/MONDO_0007422	http://identifiers.org/mesh/C536457|Orphanet:494|DOID:0111339|http://identifiers.org/snomedct/24559001|https://omim.org/entry/124500	ordo_disease
MONDO:0007420	biolink:Disease	autosomal dominant deafness - onychodystrophy syndrome	Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.	GARD:0004732|OMIM:124480|Orphanet:79499|UMLS:C2675730	mondo.json	deafness-onychodystrophy syndrome, autosomal dominant|Robinson Miller Bensimon syndrome|deafness, congenital, with onychodystrophy, autosomal dominant|Robinson-Miller-Bensimon syndrome|DDOD syndrome|deafness, congenital, and onychodystrophy, autosomal dominant|DDOD|Ddod syndrome|deafness and onychodystrophy, dominant form|autosomal dominant deafness-onychodystrophy syndrome|familial ectodermal dysplasia with sensori-neural deafness and other anomalies	http://purl.obolibrary.org/obo/MONDO_0007420	UMLS:C2675730|Orphanet:79499|https://omim.org/entry/124480	ordo_malformation_syndrome|gard_rare
UBERON:0004066	biolink:AnatomicalEntity	frontonasal prominence			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004066		
HGNC:2472	biolink:NamedThing	CSRP3			mondo.json		http://identifiers.org/hgnc/2472		
MONDO:0019419	biolink:Disease	X-linked intellectual disability-macrocephaly-macroorchidism syndrome	X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterised by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localised to the q12-q21 region of the X chromosome.	SCTID:719825000|Orphanet:85320|UMLS:CN206174	mondo.json	Johnson syndrome	http://purl.obolibrary.org/obo/MONDO_0019419	http://identifiers.org/snomedct/719825000|Orphanet:85320|UMLS:CN206174	ordo_malformation_syndrome
UBERON:0004067	biolink:AnatomicalEntity	lateral nasal prominence			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004067		
UBERON:0004064	biolink:AnatomicalEntity	neural tube basal plate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004064		
MONDO:0019416	biolink:Disease	X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome	X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23.	Orphanet:85317|UMLS:CN206172	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019416	Orphanet:85317|UMLS:CN206172	ordo_malformation_syndrome
UBERON:0004062	biolink:AnatomicalEntity	neural tube marginal layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004062		
MONDO:0019415	biolink:Disease	fetal and neonatal alloimmune thrombocytopenia	Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are recognized as foreign by the mother's immune system. The mother's immune system then creates antibodies that attack and destroy the baby's platelets. Though NAIT can occur whenever the mother's blood mixes with that of the baby, it is usually triggered when the mother is exposed to the baby's blood during delivery. Many cases of NAIT are mild. Signs and symptoms may include a low platelet count (thrombocytopenia) and signs of bleeding into the skin such as petechiae and purpura. In the most severe cases, NAIT can cause bleeding episodes that may result in death or long-term disability. Bleeding episodes can occur either during pregnancy or after birth. Management of the infant with neonatal alloimmune thrombocytopenia may include platelet transfusions, ultrasounds, and intravenous immunoglobulin (IVIG). Treatment for pregnant mothers at risk for NAIT may include IVIG and steroids.	Orphanet:853|ICD10CM:P61.0|GARD:0002295|SCTID:240305000	mondo.json	NAIT	http://purl.obolibrary.org/obo/MONDO_0019415	Orphanet:853|http://identifiers.org/snomedct/240305000	gard_rare|ordo_disease
MONDO:0019418	biolink:Disease	X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome	X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.	UMLS:CN206173|Orphanet:85319	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019418	Orphanet:85319|UMLS:CN206173	ordo_malformation_syndrome
UBERON:0004060	biolink:AnatomicalEntity	neural tube ventricular layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004060		
MONDO:0019417	biolink:Disease	X-linked intellectual disability-precocious puberty-obesity syndrome	X-linked intellectual disability-precocious puberty-obesity syndrome is characterised by moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linked.	Orphanet:85318|UMLS:CN227629	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019417	UMLS:CN227629|Orphanet:85318	ordo_malformation_syndrome
UBERON:0004061	biolink:AnatomicalEntity	neural tube mantle layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004061		
MONDO:0019412	biolink:Disease	dysspondyloenchondromatosis	Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.	Orphanet:85198|UMLS:C4302548|SCTID:722434004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019412	Orphanet:85198|UMLS:C4302548|http://identifiers.org/snomedct/722434004	ordo_malformation_syndrome
MONDO:0019411	biolink:Disease	genochondromatosis type 1	Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course.	Orphanet:85197	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019411	Orphanet:85197	ordo_disease
NCBITaxon:6246	biolink:OrganismalEntity	Strongyloididae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6246		
MONDO:0019414	biolink:Disease	BRESEK syndrome	A syndrome characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).	MESH:C564519|Orphanet:85284|UMLS:C3502469|SCTID:717945001	mondo.json	BRESHECK syndrome	http://purl.obolibrary.org/obo/MONDO_0019414	UMLS:C3502469|Orphanet:85284|http://identifiers.org/mesh/C564519|http://identifiers.org/snomedct/717945001	ordo_malformation_syndrome
MONDO:0019413	biolink:Disease	ischio-vertebral syndrome	Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.	UMLS:C4274732|Orphanet:85200|UMLS:CN206143|SCTID:715654001	mondo.json	ischio-vertebral dysplasia|ischio-spinal dysostosis	http://purl.obolibrary.org/obo/MONDO_0019413	Orphanet:85200|UMLS:CN206143|http://identifiers.org/snomedct/715654001|UMLS:C4274732	ordo_malformation_syndrome
HGNC:2475	biolink:NamedThing	CST3			mondo.json		http://identifiers.org/hgnc/2475		
MONDO:0019410	biolink:Disease	obsolete nodulosis-arthropathy-osteolysis syndrome		UMLS:CN206138|Orphanet:85196	mondo.json	multicentric osteolysis-nodulosis-arthropathy syndrome|NAO syndrome	http://purl.obolibrary.org/obo/MONDO_0019410	UMLS:CN206138|Orphanet:85196	ordo_clinical_subtype
UBERON:0004068	biolink:AnatomicalEntity	medial nasal prominence			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004068		
MONDO:0007438	biolink:Disease	dentin dysplasia-sclerotic bones syndrome	Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.	Orphanet:99792|OMIM:125440|MESH:C538213|GARD:0001808|UMLS:C1852201	mondo.json	dentin dysplasia sclerotic bones|sclerotic bones with dentin dysplasia|dentin dysplasia with sclerotic bones	http://purl.obolibrary.org/obo/MONDO_0007438	Orphanet:99792|UMLS:C1852201|https://omim.org/entry/125440|http://identifiers.org/mesh/C538213	ordo_disease
NCBITaxon:6249	biolink:OrganismalEntity	Ascaridomorpha		GC_ID:1	mondo.json	Ascaridida	http://purl.obolibrary.org/obo/NCBITaxon_6249		
UBERON:0018692	biolink:AnatomicalEntity	dorsal side of post-anal tail			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018692		
MONDO:0007439	biolink:Disease	deoxyribose-5-phosphate aldolase deficiency		MESH:C565112|OMIM:125460|UMLS:C1852200	mondo.json	deoxyribose-5-phosphate aldolase deficiency	http://purl.obolibrary.org/obo/MONDO_0007439	http://identifiers.org/mesh/C565112|UMLS:C1852200|https://omim.org/entry/125460	
MONDO:0007436	biolink:Disease	dentin dysplasia type I	Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth.	MESH:C531665|OMIM:125400|SCTID:109493006|MESH:C538215|GARD:0001807|Orphanet:99789|ICD9:520.5|UMLS:C0399379	mondo.json	dentin dysplasia, type I, with extreme microdontia and misshapen teeth|dentin dysplasia, type i, with microdontia and misshapen teeth|DTDP1|dentin dysplasia, type 1|dentin dysplasia, Shields type 1|DD-I|rootless teeth|dentin dysplasia, type I|radicular dentin dysplasia|dentin dysplasia type I	http://purl.obolibrary.org/obo/MONDO_0007436	Orphanet:99789|https://omim.org/entry/125400|http://identifiers.org/snomedct/109493006|http://identifiers.org/mesh/C531665|UMLS:C0399379|http://identifiers.org/mesh/C538215	ordo_clinical_subtype|gard_rare
NCBITaxon:6247	biolink:OrganismalEntity	Strongyloides		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6247		
NCBITaxon:6248	biolink:OrganismalEntity	Strongyloides stercoralis		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6248		
MONDO:0007437	biolink:Disease	dentin dysplasia type II	Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD) characterized by normal tooth roots but abnormal primary dentition.	Orphanet:99791|OMIM:125420|SCTID:109494000|GARD:0001806|ICD9:520.5	mondo.json	pulpal dysplasia|dentin dyspalsia, Shields type 2|Dtdp2|dentin dysplasia, Shields type 2|DTDP2|pulp stones|dentin dysplasia, coronal|dentin dysplasia, type II|dentin dysplasia, type 2|coronal dentin dysplasia|anomalous dysplasia of dentin|DD-II	http://purl.obolibrary.org/obo/MONDO_0007437	Orphanet:99791|https://omim.org/entry/125420|http://identifiers.org/snomedct/109494000	ordo_clinical_subtype
UBERON:0018691	biolink:AnatomicalEntity	ventral side of post-anal tail			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018691		
MONDO:0007434	biolink:Disease	primary failure of tooth eruption		MESH:C565114|Orphanet:412206|OMIM:125350|UMLS:C1852222|DOID:0111341	mondo.json	primary failure of eruption, nonsyndromic|posterior Openbite malocclusion, familial|failure of tooth eruption, primary|unerupted second primary molar|primary retention of teeth|dental noneruption|PFE	http://purl.obolibrary.org/obo/MONDO_0007434	http://identifiers.org/mesh/C565114|DOID:0111341|UMLS:C1852222|https://omim.org/entry/125350|Orphanet:412206	ordo_disease
MONDO:0007435	biolink:Disease	dentatorubral-pallidoluysian atrophy	Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.	MESH:D020191|GARD:0005643|SCTID:267581004|ICD9:333.99|UMLS:C0751778|DOID:0060162|Orphanet:101|NCIT:C7636|SCTID:68116008|OMIM:125370|NCIT:C122653|UMLS:C0751781	mondo.json	haw River syndrome|ataxia, chorea, seizures, and dementia|dentatorubral pallidoluysian atrophy|Dentatorubropallidoluysian atrophy|NOD|myoclonic epilepsy with choreoathetosis|dentatorubral-pallidoluysian atrophy|Naito-Oyanagi disease|DRPLA|Naito Oyanagi disease	http://purl.obolibrary.org/obo/MONDO_0007435	Orphanet:101|UMLS:C0751781|http://identifiers.org/snomedct/68116008|DOID:0060162|https://omim.org/entry/125370|NCIT:C122653	ordo_disease|gard_rare
MONDO:0007432	biolink:Disease	cerebral arteriopathy with subcortical infarcts and leukoencephalopathy		DOID:13945|OMIMPS:125310|ICD9:447.8|ICD9:323.9	mondo.json	Casil|cerebral arteriopathy with subcortical infarcts and leukoencephalopathy|dementia, hereditary multi-infarct type|cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy|cerebral arteriopathy with subcortical infaracts and leukoencephalopathy|CADASIL	http://purl.obolibrary.org/obo/MONDO_0007432	DOID:13945|https://omim.org/phenotypicSeries/PS125310	prototype_pattern|ordo_disease
MONDO:0007433	biolink:Disease	dementia/parkinsonism with non-Alzheimer amyloid plaques		OMIM:125320|UMLS:C1852223|MESH:C565115	mondo.json	dementia/parkinsonism with non-Alzheimer amyloid plaques	http://purl.obolibrary.org/obo/MONDO_0007433	http://identifiers.org/mesh/C565115|UMLS:C1852223|https://omim.org/entry/125320	
MONDO:0007430	biolink:Disease	dens evaginatus		SCTID:63691004|OMIM:125280	mondo.json	dens evaginatus	http://purl.obolibrary.org/obo/MONDO_0007430	https://omim.org/entry/125280|http://identifiers.org/snomedct/63691004	
MONDO:0007431	biolink:Disease	dens in dente and palatal invaginations		MESH:C538211|OMIM:125300|UMLS:C1852250|GARD:0010069	mondo.json	dens in dente and palatal INVAGINATIONS	http://purl.obolibrary.org/obo/MONDO_0007431	UMLS:C1852250|https://omim.org/entry/125300|http://identifiers.org/mesh/C538211	
MONDO:0019409	biolink:Disease	idiopathic juvenile osteoporosis	Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.	OMIM:259750|SCTID:3345002|OMIM:615221|Orphanet:85193|NCIT:C119996|DOID:12559|UMLS:CN536248|MESH:C537700|ICD9:733.02|GARD:0006760	mondo.json	idiopathic osteoporosis|Ijo|Pediatric osteoporosis|osteoporosis, juvenile|juvenile osteoporosis|idiopathic juvenile osteoporosis	http://purl.obolibrary.org/obo/MONDO_0019409	NCIT:C119996|Orphanet:85193|http://identifiers.org/mesh/C537700|http://identifiers.org/snomedct/3345002|DOID:12559|UMLS:CN536248|https://omim.org/entry/259750	ordo_malformation_syndrome
MONDO:0019408	biolink:Disease	Astley-Kendall dysplasia	Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.	MESH:C535392|GARD:0009220|UMLS:C1300228|Orphanet:85175|SCTID:389263004	mondo.json	Astley-Kendall syndrome|short limbed dwarfism with extensive stippling	http://purl.obolibrary.org/obo/MONDO_0019408	Orphanet:85175|http://identifiers.org/mesh/C535392|UMLS:C1300228|http://identifiers.org/snomedct/389263004	ordo_malformation_syndrome
HGNC:2482	biolink:NamedThing	CSTB			mondo.json		http://identifiers.org/hgnc/2482		
UBERON:0004053	biolink:AnatomicalEntity	external male genitalia			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004053		
HGNC:2481	biolink:NamedThing	CSTA			mondo.json		http://identifiers.org/hgnc/2481		
UBERON:0004054	biolink:AnatomicalEntity	internal male genitalia			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004054		
MONDO:0019405	biolink:Disease	facial onset sensory and motor neuronopathy	Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease.	SCTID:723306004|UMLS:CN206118|GARD:0012036|Orphanet:85162	mondo.json	facial onset sensory and motor neuronopathy syndrome|FOSMN syndrome|facial onset sensorimotor neuronopathy syndrome	http://purl.obolibrary.org/obo/MONDO_0019405	http://identifiers.org/snomedct/723306004|Orphanet:85162|UMLS:CN206118	gard_rare|ordo_disease
MONDO:0019404	biolink:Disease	perineurioma	A usually benign perineurioma not associated with a nerve, arising from the soft tissues.	ICDO:9571/0|UMLS:C0751691|GARD:0012698|SCTID:404036006|DOID:4697|Orphanet:85102|ICD9:215.9|NCIT:C4973	mondo.json	perineurioma|soft tissue perineurioma	http://purl.obolibrary.org/obo/MONDO_0019404	Orphanet:85102|DOID:4697|UMLS:C0751691|http://identifiers.org/snomedct/404036006|NCIT:C4973	ordo_group_of_disorders|disease_grouping|gard_rare
MONDO:0019407	biolink:Disease	microcephalic osteodysplastic dysplasia, Saul-Wilson type	A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1.	Orphanet:85172|OMIM:618150|DOID:0111673	mondo.json	microcephalic osteodysplastic dysplasia, Saul-Wilson type|Saul-Wilson syndrome|SWILS|microcephalic osteodysplastic dysplasia	http://purl.obolibrary.org/obo/MONDO_0019407	https://omim.org/entry/618150|Orphanet:85172|DOID:0111673	ordo_disease
NCBITaxon:162474	biolink:OrganismalEntity	Malasseziales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_162474		
MONDO:0019406	biolink:Disease	craniofacial conodysplasia	Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.	Orphanet:85168	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019406	Orphanet:85168	ordo_malformation_syndrome
MONDO:0019401	biolink:Disease	sporadic idiopathic steroid-resistant nephrotic syndrome	Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema.	UMLS:C4274017|SCTID:717191005|Orphanet:84271	mondo.json	sporadic idiopathic nephrosis	http://purl.obolibrary.org/obo/MONDO_0019401	Orphanet:84271|http://identifiers.org/snomedct/717191005|UMLS:C4274017	ordo_clinical_syndrome
MONDO:0019400	biolink:Disease	obsolete testicular seminomatous germ cell tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019400		
MONDO:0019403	biolink:Disease	congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA.	ICD9:285.8|GARD:0001999|SCTID:52951008|MESH:D000742|OMIMPS:224120|ICD10CM:D64.4|UMLS:C0002876|NCIT:C84646|DOID:1338|Orphanet:85	mondo.json	dyserythropoietic anemia, congenital|anemia, congenital dyserythropoietic|CDA|congenital dyshaematopoietic anaemia	http://purl.obolibrary.org/obo/MONDO_0019403	http://purl.bioontology.org/ontology/ICD10CM/D64.4|UMLS:C0002876|https://omim.org/phenotypicSeries/PS224120|http://identifiers.org/mesh/D000742|DOID:1338|http://identifiers.org/snomedct/52951008|Orphanet:85|NCIT:C84646	disease_grouping|ordo_group_of_disorders
MONDO:0019402	biolink:Disease	beta thalassemia	Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).	MESH:D017086|SCTID:65959000|GARD:0000871|Orphanet:848|NCIT:C34375|MedDRA:10043391|ICD9:282.49|ICD9:282.44|DOID:12241	mondo.json	erythroblastic anemia|Thalassemias, beta-|thalassemia major|Beta thalassemia minor|Beta thalassemia intermedia|thalassemia, Hispanic gamma-delta-beta	http://purl.obolibrary.org/obo/MONDO_0019402	http://identifiers.org/snomedct/65959000|NCIT:C34375|Orphanet:848|DOID:12241|http://identifiers.org/mesh/D017086	ordo_disease
HGNC:2488	biolink:NamedThing	NKX2-5			mondo.json		http://identifiers.org/hgnc/2488		
NCBITaxon:6252	biolink:OrganismalEntity	Ascaris lumbricoides		GC_ID:1	mondo.json	common roundworm	http://purl.obolibrary.org/obo/NCBITaxon_6252		
NCBITaxon:6250	biolink:OrganismalEntity	Ascarididae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6250		
UBERON:0004058	biolink:AnatomicalEntity	biliary ductule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004058		
NCBITaxon:6251	biolink:OrganismalEntity	Ascaris		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6251		
MONDO:0007409	biolink:Disease	cryptomicrotia-brachydactyly-excess fingertip arch syndrome	Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988.	UMLS:C1852454|GARD:0008174|MESH:C536219|OMIM:123560|Orphanet:1547|SCTID:725096002	mondo.json	CRYPTOMICROTIA-brachydactyly syndrome|Cryptomicrotia brachydactyly syndrome|Cryptomicrotia-brachydactyly syndrome|Cryptomicrotia brachydactyly syndrome excess fingertip arch|Tonoki Ohura Niikawa syndrome|Tonoki-Ohura-Niikawa syndrome|bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch	http://purl.obolibrary.org/obo/MONDO_0007409	UMLS:C1852454|http://identifiers.org/snomedct/725096002|https://omim.org/entry/123560|http://identifiers.org/mesh/C536219|Orphanet:1547	ordo_malformation_syndrome
MONDO:0007407	biolink:Disease	Cryoglobulinemic vasculitis	Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia.	GARD:0006386|ICD10CM:D89.1|MedDRA:10027756|OMIM:123550|Orphanet:91138|UMLS:C0343208|ICD9:273.2|SCTID:190815001|UMLS:C1852456|UMLS:C0272258|MESH:C565141|UMLS:C0340992	mondo.json	essential mixed cryoglobulinemia|mixed cryoglobulinemia|essential cryoglobulinemia|Meltzer syndrome|familial mixed cryoglobulinemia|primary cryoglobulinemia|cryoglobulinemia, familial mixed|MC	http://purl.obolibrary.org/obo/MONDO_0007407	UMLS:C0340992|UMLS:C0272258|Orphanet:91138|https://omim.org/entry/123550|UMLS:C0343208|http://identifiers.org/mesh/C565141|http://identifiers.org/snomedct/190815001|UMLS:C1852456	ordo_disease
MONDO:0007408	biolink:Disease	cryptotia, familial		OMIM:123557|UMLS:C1852455|MESH:C565140	mondo.json	cryptotia, familial	http://purl.obolibrary.org/obo/MONDO_0007408	UMLS:C1852455|https://omim.org/entry/123557|http://identifiers.org/mesh/C565140	
MONDO:0007405	biolink:Disease	Crouzon syndrome	Crouzon disease is characterized by craniosynostosis and facial hypoplasia.	MESH:D003394|DOID:2339|Orphanet:207|NCIT:C84653|UMLS:CN200892|GARD:0006206|OMIM:123500|SCTID:28861008	mondo.json	Crouzon craniofacial dysostosis|Crouzon syndrome|craniofacial dysostosis, type 1|craniofacial dysostosis type 1|Crouzon's disease|Crouzon disease|craniofacial dysostosis|Cfd1	http://purl.obolibrary.org/obo/MONDO_0007405	NCIT:C84653|http://identifiers.org/mesh/D003394|https://omim.org/entry/123500|http://identifiers.org/snomedct/28861008|Orphanet:207|UMLS:CN200892|DOID:2339	gard_rare|ordo_malformation_syndrome
MONDO:0007406	biolink:Disease	cryofibrinogenemia, familial primary		OMIM:123540|MESH:C565142|UMLS:C1852457	mondo.json	cryofibrinogenemia, familial primary	http://purl.obolibrary.org/obo/MONDO_0007406	https://omim.org/entry/123540|http://identifiers.org/mesh/C565142|UMLS:C1852457	
MONDO:0007403	biolink:Disease	inherited Creutzfeldt-Jakob disease	Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.	OMIM:123400|SCTID:715807002|UMLS:CN202816|Orphanet:282166	mondo.json	Creutzfeldt-Jakob disease, variant|Creutzfeldt-Jakob disease, familial|Creutzfeldt-Jakob disease, sporadic|inherited CJD|Creutzfeldt-Jakob disease, variant, resistance to|hereditary Creutzfeldt Jacob disease|Creutzfeldt-Jakob disease|Creutzfeldt-Jakob disease, Heidenhain variant|CJD	http://purl.obolibrary.org/obo/MONDO_0007403	http://identifiers.org/snomedct/715807002|https://omim.org/entry/123400|UMLS:CN202816|Orphanet:282166	ordo_disease
MONDO:0007404	biolink:Disease	Cri-du-chat syndrome	Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.	MESH:D003410|OMIM:123450|UMLS:C0010314|UMLS:CN776901|NCIT:C34518|DOID:12580|SCTID:70173007|DECIPHER:2|ICD9:758.31|MedDRA:10011385|Orphanet:281|GARD:0006213|ICD9:758.39	mondo.json	deletion 5p|monosomy 5p|chromosome 5p- syndrome|5p minus syndrome|chromosome 5 short arm deletion syndrome|5p partial monosomy syndrome|5p deletion syndrome|chromosome 5p deletion syndrome|chromosome 5P deletion syndrome|Cri-du-chat syndrome|Cat-Cry syndrome|monosomy type 5p|5p- syndrome|Cri du chat syndrome|Cat Cry syndrome	http://purl.obolibrary.org/obo/MONDO_0007404	http://identifiers.org/mesh/D003410|https://omim.org/entry/123450|NCIT:C34518|Orphanet:281|http://identifiers.org/snomedct/70173007|UMLS:C0010314|DOID:12580|UMLS:CN776901	ordo_malformation_syndrome
MONDO:0007401	biolink:Disease	craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome	Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.	GARD:0000998|MESH:C563973|SCTID:720813007|OMIM:123155|UMLS:CN199608|GARD:0001592|Orphanet:1538	mondo.json	sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus|Braddock Jones Superneau syndrome|Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus|hydrocephalus, autosomal dominant|HDCPH1|craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome|Braddock-Jones-Superneau syndrome	http://purl.obolibrary.org/obo/MONDO_0007401	https://omim.org/entry/123155|Orphanet:1538|UMLS:CN199608|http://identifiers.org/snomedct/720813007|http://identifiers.org/mesh/C563973	gard_rare|ordo_malformation_syndrome
MONDO:0007402	biolink:Disease	creatine phosphokinase, elevated serum		OMIM:123320	mondo.json	creatine phosphokinase, elevated serum|hyperCKemia, idiopathic|CPK, elevated serum	http://purl.obolibrary.org/obo/MONDO_0007402	https://omim.org/entry/123320	
MONDO:0007400	biolink:Disease	Jackson-Weiss syndrome	Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.	ICD9:759.89|MESH:C537559|SCTID:709105005|OMIM:123150|DOID:0111337|NCIT:C123814|Orphanet:1540|GARD:0006796|UMLS:C0795998	mondo.json	Jackson-Weiss syndrome|craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome|craniosynostosis, midfacial hypoplasia, and foot abnormalities|JWS	http://purl.obolibrary.org/obo/MONDO_0007400	https://omim.org/entry/123150|NCIT:C123814|Orphanet:1540|UMLS:C0795998|http://identifiers.org/mesh/C537559|DOID:0111337|http://identifiers.org/snomedct/709105005	ordo_malformation_syndrome|gard_rare
HGNC:2494	biolink:NamedThing	CTBP1			mondo.json		http://identifiers.org/hgnc/2494		
UBERON:0004040	biolink:AnatomicalEntity	cortical intermediate zone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004040		
HGNC:2498	biolink:NamedThing	CTDP1			mondo.json		http://identifiers.org/hgnc/2498		
UBERON:0018674	biolink:AnatomicalEntity	heart vasculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018674		
MONDO:0007418	biolink:Disease	Darwinian tubercle of pinna		OMIM:124400|OMIM:124300|UMLS:C2751189	mondo.json	Darwinian point of Pinna|Darwinian Notch|Darwinian tubercle of pinna	http://purl.obolibrary.org/obo/MONDO_0007418	https://omim.org/entry/124300|https://omim.org/entry/124400|UMLS:C2751189	merged_class
MONDO:0007419	biolink:Disease	obsolete Darwinian tubercle of pinna			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007419		
UBERON:0018673	biolink:AnatomicalEntity	neck of fibula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018673		
MONDO:0007416	biolink:Disease	Balkan nephropathy	A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease.	NCIT:C123025|UMLS:C4049993|ICD10CM:N15.0|DOID:3052|ICD9:583.89|OMIM:124100|MESH:D001449|UMLS:C0004698|SCTID:26121002|GARD:0008576|EFO:0007164	mondo.json	Danubian endemic familial nephropathy|aristolochic acid nephropathy|Balkan endemic nephropathy|DEFN|AAN|BEN|Chinese herb endemic nephropathy|endemic nephropathy|nephropathia epidemica	http://purl.obolibrary.org/obo/MONDO_0007416	http://identifiers.org/snomedct/26121002|http://identifiers.org/mesh/D001449|DOID:3052|http://purl.bioontology.org/ontology/ICD10CM/N15.0|UMLS:C4049993|NCIT:C123025|https://omim.org/entry/124100|UMLS:C0004698	
MONDO:0007417	biolink:Disease	Darier disease	Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.	SCTID:48611009|DOID:2734|NCIT:C84665|MedDRA:10023369|MESH:D007644|ICD9:757.39|Wikipedia:Darier%27s_disease|UMLS:C0022595|Orphanet:218|OMIM:124200|GARD:0006243	mondo.json	Darier White disease|Darier's disease|Darier disease, segmental|Darier-White disease|DAR|Darier disease, acral hemorrhagic type|dar|Darier disease|keratosis follicularis	http://purl.obolibrary.org/obo/MONDO_0007417	https://omim.org/entry/124200|Orphanet:218|http://identifiers.org/snomedct/48611009|http://identifiers.org/mesh/D007644|DOID:2734|UMLS:C0022595|NCIT:C84665	ordo_disease
MONDO:0007414	biolink:Disease	Gorham-Stout disease	Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture.	Orphanet:73|MedDRA:10071283|OMIM:123880|SCTID:1515008|GARD:0006542|ICD9:733.99	mondo.json	idiopathic massive osteolysis|Gorham-Stout disease|osteolysis, massive|vanishing bone disease|cystic angiomatosis of bone, diffuse|progressive massive osteolysis|cystic angiomatosis of bone diffuse|Gorham syndrome|Gorham disease|osteolysis massive	http://purl.obolibrary.org/obo/MONDO_0007414	http://identifiers.org/snomedct/1515008|https://omim.org/entry/123880|Orphanet:73	ordo_malformation_syndrome
MONDO:0007415	biolink:Disease	mitochondrial complex III deficiency nuclear type 1	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene.	MESH:C565128|GARD:0008295|DOID:0080111|OMIM:124000	mondo.json	mitochondrial complex III deficiency, nuclear type 1|Complex 3 mitochondrial respiratory chain deficiency|BCS1L mitochondrial complex III deficiency|MC3DN1|mitochondrial Complex 3 deficiency, nuclear type 1|mitochondrial complex III deficiency caused by mutation in BCS1L|mitochondrial complex III deficiency	http://purl.obolibrary.org/obo/MONDO_0007415	DOID:0080111|http://identifiers.org/mesh/C565128|https://omim.org/entry/124000	gard_rare
MONDO:0007412	biolink:Disease	Beare-Stevenson cutis gyrata syndrome	Cutis Gyrata-Acanthosis nigricans-craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.	MESH:C565129|UMLS:C1852406|GARD:0000332|Orphanet:1555|OMIM:123790|NCIT:C123813|DOID:0050660|SCTID:703528008|ICD9:759.89	mondo.json	Beare Stevenson syndrome|cutis gyrata syndrome of Beare and Stevenson|Beare-Stevenson cutis gyrata syndrome|Beare-Stevenson syndrome|cutis gyrata - acanthosis nigricans - craniosynostosis|cutis gyrata-acanthosis nigricans-craniosynostosis syndrome|BSTVS	http://purl.obolibrary.org/obo/MONDO_0007412	NCIT:C123813|https://omim.org/entry/123790|Orphanet:1555|http://identifiers.org/mesh/C565129|DOID:0050660|UMLS:C1852406|http://identifiers.org/snomedct/703528008	gard_rare|ordo_malformation_syndrome
MONDO:0007413	biolink:Disease	Cyprus facial-neuromusculoskeletal syndrome	Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects.	Orphanet:2674|MESH:C536229|SCTID:732261005|UMLS:C1852396|GARD:0009487|OMIM:123853	mondo.json	unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects|CYPRUS facial neuromusculoskeletal syndrome	http://purl.obolibrary.org/obo/MONDO_0007413	Orphanet:2674|https://omim.org/entry/123853|http://identifiers.org/mesh/C536229|http://identifiers.org/snomedct/732261005|UMLS:C1852396	ordo_malformation_syndrome|gard_rare
MONDO:0007410	biolink:Disease	isolated cryptophthalmia	Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant.	DOID:0111717|MESH:C565138|OMIM:123570|UMLS:C1852453|Orphanet:91396|SCTID:718691008	mondo.json	cryptophthalmos with microphthalmia and Peters anomaly|nonsyndromic cryptophthalmia|cryptophthalmos, unilateral or bilateral, isolated|ankyloblepharon, simple	http://purl.obolibrary.org/obo/MONDO_0007410	https://omim.org/entry/123570|http://identifiers.org/mesh/C565138|DOID:0111717|UMLS:C1852453|http://identifiers.org/snomedct/718691008|Orphanet:91396	ordo_morphological_anomaly
MONDO:0007411	biolink:Disease	cutis laxa, autosomal dominant 1	Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene.	UMLS:C3276539|DOID:0070130|OMIM:123700	mondo.json	cutis laxa, autosomal dominant|ELN autosomal dominant cutis laxa|ADCL1|autosomal dominant cutis laxa caused by mutation in ELN|autosomal dominant cutis laxa 1|cutis laxa, autosomal dominant type 1|cutis laxa, autosomal dominant 1	http://purl.obolibrary.org/obo/MONDO_0007411	https://omim.org/entry/123700|UMLS:C3276539|DOID:0070130	
UBERON:0006694	biolink:AnatomicalEntity	cerebellum vasculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006694		
UBERON:0006692	biolink:AnatomicalEntity	vertebral canal			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006692		
NCBITaxon:6231	biolink:OrganismalEntity	Nematoda		GC_ID:1	mondo.json	roundworms|roundworm|nematodes|Nemata|nematodes|nematode	http://purl.obolibrary.org/obo/NCBITaxon_6231		
UBERON:0004035	biolink:AnatomicalEntity	cortical subplate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004035		
GO:0032838	biolink:NamedThing	plasma membrane bounded cell projection cytoplasm	All of the contents of a plasma membrane bounded cell projection, excluding the plasma membrane surrounding the projection.		mondo.json		http://purl.obolibrary.org/obo/GO_0032838		
GO:0005215	biolink:NamedThing	transporter activity	Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells.		mondo.json	carrier	http://purl.obolibrary.org/obo/GO_0005215		
GO:0005216	biolink:NamedThing	ion channel activity	Enables the facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. May be either selective (it enables passage of a specific ion only) or non-selective (it enables passage of two or more ions of same charge but different size).		mondo.json		http://purl.obolibrary.org/obo/GO_0005216		
GO:0032839	biolink:NamedThing	dendrite cytoplasm	All of the contents of a dendrite, excluding the surrounding plasma membrane.		mondo.json	dendritic cytoplasm	http://purl.obolibrary.org/obo/GO_0032839		
NCBITaxon:6281	biolink:OrganismalEntity	Onchocerca		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6281		
NCBITaxon:6282	biolink:OrganismalEntity	Onchocerca volvulus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6282		
GO:0019855	biolink:NamedThing	calcium channel inhibitor activity	Binds to and stops, prevents, or reduces the activity of a calcium channel.		mondo.json		http://purl.obolibrary.org/obo/GO_0019855		
GO:0019852	biolink:NamedThing	L-ascorbic acid metabolic process	The chemical reactions and pathways involving L-ascorbic acid, (2R)-2-[(1S)-1,2-dihydroxyethyl]-4-hydroxy-5-oxo-2,5-dihydrofuran-3-olate; L-ascorbic acid is vitamin C and has co-factor and anti-oxidant activities in many species.		mondo.json	vitamin C metabolic process|ascorbate metabolic process|L-ascorbic acid metabolism|ascorbate metabolism|vitamin C metabolism	http://purl.obolibrary.org/obo/GO_0019852		
GO:0019853	biolink:NamedThing	L-ascorbic acid biosynthetic process	The chemical reactions and pathways resulting in the formation of L-ascorbic acid; L-ascorbic acid ionizes to give L-ascorbate, (2R)-2-[(1S)-1,2-dihydroxyethyl]-4-hydroxy-5-oxo-2,5-dihydrofuran-3-olate, which is required as a cofactor in the oxidation of prolyl residues to hydroxyprolyl, and other reactions.		mondo.json	L-ascorbic acid anabolism|L-ascorbic acid biosynthesis|ascorbate biosynthetic process|ascorbate biosynthesis|L-ascorbic acid synthesis|vitamin C biosynthetic process|vitamin C biosynthesis|L-ascorbic acid formation	http://purl.obolibrary.org/obo/GO_0019853		
UBERON:0006603	biolink:AnatomicalEntity	presumptive mesoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006603		
UBERON:0006601	biolink:AnatomicalEntity	presumptive ectoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006601		
NCBITaxon:6286	biolink:OrganismalEntity	Dirofilaria		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6286		
HP:0002300	biolink:PhenotypicFeature	Mutism		MSH:D009155|SNOMEDCT_US:88052002|UMLS:C0026884	mondo.json	Inability to speak|Muteness	http://purl.obolibrary.org/obo/HP_0002300		
GO:0019866	biolink:NamedThing	organelle inner membrane	The inner, i.e. lumen-facing, lipid bilayer of an organelle envelope; usually highly selective to most ions and metabolites.		mondo.json		http://purl.obolibrary.org/obo/GO_0019866		
NCBITaxon:6296	biolink:OrganismalEntity	Onchocercidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6296		
NCBITaxon:6295	biolink:OrganismalEntity	Filarioidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6295		
GO:0032812	biolink:NamedThing	positive regulation of epinephrine secretion	Any process that activates or increases the frequency, rate or extent of the regulated release of epinephrine.		mondo.json	up regulation of epinephrine secretion|activation of epinephrine secretion|stimulation of epinephrine secretion|upregulation of epinephrine secretion|positive regulation of adrenaline secretion|up-regulation of epinephrine secretion	http://purl.obolibrary.org/obo/GO_0032812		
GO:0032811	biolink:NamedThing	negative regulation of epinephrine secretion	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of epinephrine.		mondo.json	down-regulation of epinephrine secretion|negative regulation of adrenaline secretion|down regulation of epinephrine secretion|downregulation of epinephrine secretion|inhibition of epinephrine secretion	http://purl.obolibrary.org/obo/GO_0032811		
NCBITaxon:6258	biolink:OrganismalEntity	Baylisascaris		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6258		
NCBITaxon:6259	biolink:OrganismalEntity	Baylisascaris procyonis		GC_ID:1	mondo.json	raccoon roundworm	http://purl.obolibrary.org/obo/NCBITaxon_6259		
OBO:ECTO_0600000	biolink:NamedThing	exposure to environmental system	A exposure event involving the interaction of an exposure receptor to environmental system.		mondo.json	environmental system exposure	http://purl.obolibrary.org/obo/ECTO_0600000		
NCBITaxon:6267	biolink:OrganismalEntity	Anisakidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6267		
NCBITaxon:6268	biolink:OrganismalEntity	Anisakis		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6268		
NCBITaxon:6264	biolink:OrganismalEntity	Toxocara		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6264		
NCBITaxon:693995	biolink:OrganismalEntity	Coronavirinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_693995		
NCBITaxon:693996	biolink:OrganismalEntity	Alphacoronavirus		GC_ID:1	mondo.json	Group 1 species|Coronavirus group 1|Coronavirus	http://purl.obolibrary.org/obo/NCBITaxon_693996		
NCBITaxon:6269	biolink:OrganismalEntity	Anisakis simplex		GC_ID:1	mondo.json	herring worm|Ascaris simplex	http://purl.obolibrary.org/obo/NCBITaxon_6269		
NCBITaxon:693997	biolink:OrganismalEntity	Alphacoronavirus 1		GC_ID:1	mondo.json	Alphacoronavirus-1	http://purl.obolibrary.org/obo/NCBITaxon_693997		
NCBITaxon:91493	biolink:OrganismalEntity	Exserohilum		GC_ID:1	mondo.json	Setosphaeria	http://purl.obolibrary.org/obo/NCBITaxon_91493		
GO:0019842	biolink:NamedThing	vitamin binding	Binding to a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body.		mondo.json		http://purl.obolibrary.org/obo/GO_0019842		
NCBITaxon:6274	biolink:OrganismalEntity	Spirurina		GC_ID:1	mondo.json	Spirurida	http://purl.obolibrary.org/obo/NCBITaxon_6274		
HP:0002334	biolink:PhenotypicFeature	Abnormal cerebellar vermis morphology	An anomaly of the vermis of cerebellum.	UMLS:C4025712	mondo.json	Abnormality of the cerebellar vermis	http://purl.obolibrary.org/obo/HP_0002334		
GO:0019814	biolink:NamedThing	immunoglobulin complex	A protein complex that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains, held together by disulfide bonds and sometimes complexed with additional proteins. An immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph.		mondo.json	antibody	http://purl.obolibrary.org/obo/GO_0019814		
GO:0019815	biolink:NamedThing	B cell receptor complex	An immunoglobulin complex that is present in the plasma membrane of B cells and that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins.		mondo.json	immunoglobulin complex, membrane bound|B cell receptor accessory molecule complex|B-lymphocyte receptor complex|BCR complex|B lymphocyte receptor complex|B-cell receptor complex|antibody	http://purl.obolibrary.org/obo/GO_0019815		
UBERON:0006648	biolink:AnatomicalEntity	adventitia of seminal vesicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006648		
UBERON:0006647	biolink:AnatomicalEntity	adventitia of ductus deferens			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006647		
UBERON:0006646	biolink:AnatomicalEntity	muscle layer of epididymis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006646		
UBERON:0006645	biolink:AnatomicalEntity	adventitia of epididymis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006645		
UBERON:0006642	biolink:AnatomicalEntity	muscle layer of oviduct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006642		
NCBITaxon:400053	biolink:OrganismalEntity	Sylvaemus group		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_400053		
CHEBI:43474	biolink:ChemicalSubstance	hydrogenphosphate	A phosphate ion that is the conjugate base of dihydrogenphosphate.		mondo.json	hydrogen(tetraoxidophosphate)(2-)|HYDROGENPHOSPHATE ION|hydrogentetraoxophosphate(V)|hydrogentetraoxophosphate(2-)|hydrogenphosphate|INORGANIC PHOSPHATE GROUP|HPO4(2-)|[P(OH)O3](2-)|[PO3(OH)](2-)|phosphate|hydrogen phosphate|hydroxidotrioxidophosphate(2-)	http://purl.obolibrary.org/obo/CHEBI_43474		
HP:0002344	biolink:PhenotypicFeature	Progressive neurologic deterioration		UMLS:C1854838	mondo.json	Progressive neurodegeneration|Neurologic deterioration|Neurologic deterioration, progressive|Progressive mental deterioration|Worsening neurological symptoms	http://purl.obolibrary.org/obo/HP_0002344		
HP:0002345	biolink:PhenotypicFeature	Action tremor	A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.	MSH:D014202|UMLS:C0234376|UMLS:C4020853|SNOMEDCT_US:30721006	mondo.json	Ataxic tremor	http://purl.obolibrary.org/obo/HP_0002345		
FOODON:00001563	biolink:NamedThing	has defining ingredient	A defining ingredient defines what a food is principally categorized as, rather than an ingredient listed by percentage of weight or volume. A food may have more than one defining ingredient.		mondo.json		http://purl.obolibrary.org/obo/FOODON_00001563		
HGNC:2400	biolink:NamedThing	CRYBB3			mondo.json		http://identifiers.org/hgnc/2400		
UBERON:0006635	biolink:AnatomicalEntity	anterior abdominal wall			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006635		
UBERON:0006633	biolink:AnatomicalEntity	coracoid process of scapula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006633		
UBERON:0006632	biolink:AnatomicalEntity	musculo-phrenic artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006632		
HGNC:2409	biolink:NamedThing	CRYGB			mondo.json		http://identifiers.org/hgnc/2409		
UBERON:0006617	biolink:AnatomicalEntity	left external ear			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006617		
HP:0002315	biolink:PhenotypicFeature	Headache	Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.	MSH:D006261|UMLS:C0018681|SNOMEDCT_US:25064002	mondo.json	Headache|Headaches	http://purl.obolibrary.org/obo/HP_0002315		
FOODON:00001579	biolink:NamedThing	alcoholic beverage	An alcoholic drink (or alcoholic beverage) is a drink that contains ethanol, a type of alcohol produced by fermentation of grains, fruits, or other sources of sugar.	SUBSET_SIREN:F10770	mondo.json		http://purl.obolibrary.org/obo/FOODON_00001579		
HGNC:2411	biolink:NamedThing	CRYGD			mondo.json		http://identifiers.org/hgnc/2411		
HGNC:2410	biolink:NamedThing	CRYGC			mondo.json		http://identifiers.org/hgnc/2410		
HGNC:2418	biolink:NamedThing	CRYM			mondo.json		http://identifiers.org/hgnc/2418		
HGNC:2417	biolink:NamedThing	CRYGS			mondo.json		http://identifiers.org/hgnc/2417		
UBERON:0006606	biolink:AnatomicalEntity	mandibular symphysis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006606		
HP:0002329	biolink:PhenotypicFeature	Drowsiness	Excessive daytime sleepiness.	SNOMEDCT_US:79519003|MSH:D012894|UMLS:C0013144|SNOMEDCT_US:271782001	mondo.json	Sleepy|Drowsiness	http://purl.obolibrary.org/obo/HP_0002329		
HP:0002321	biolink:PhenotypicFeature	Vertigo	An abnormal sensation of spinning while the body is actually stationary.	SNOMEDCT_US:399153001|UMLS:C0012833|MSH:D004244|UMLS:C0042571|SNOMEDCT_US:399090003|MSH:D014717|SNOMEDCT_US:404640003|SNOMEDCT_US:271789005	mondo.json	Dizziness|Dizzy spell	http://purl.obolibrary.org/obo/HP_0002321		
UBERON:0006616	biolink:AnatomicalEntity	right external ear			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006616		
UBERON:0006615	biolink:AnatomicalEntity	venous sinus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006615		
UBERON:0006614	biolink:AnatomicalEntity	aponeurosis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006614		
MONDO:0044250	biolink:Disease	obsolete tongue curling, folding, or rolling		OMIM:189300	mondo.json	tongue curling, folding, or rolling|cloverleaf tongue|trefoil tongue	http://purl.obolibrary.org/obo/MONDO_0044250	https://omim.org/entry/189300	
MONDO:0019294	biolink:Disease	mixed dermis disorder		Orphanet:183481|UMLS:CN227617|Orphanet:79380	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019294	UMLS:CN227617|Orphanet:79380	disease_grouping|ordo_group_of_disorders
MONDO:0020283	biolink:Disease	uveitis	An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision.	Orphanet:98715|MedDRA:10046851|NCIT:C26909|EFO:1001231|HP:0000554|SCTID:128473001|UMLS:C0042164|MESH:D014605|DOID:13141	mondo.json	uveitis|uveitis (disease)|uvea inflammation|inflammation of uvea	http://purl.obolibrary.org/obo/MONDO_0020283	http://identifiers.org/mesh/D014605|UMLS:C0042164|Orphanet:98715|DOID:13141|NCIT:C26909|http://identifiers.org/snomedct/128473001	disease_grouping|ordo_group_of_disorders
MONDO:0019293	biolink:Disease	skin vascular disease	A disease that involves the superficial vasculature.	SCTID:11263005|DOID:9540|UMLS:C0162819|ICD9:709.1|MedDRA:10062171|NCIT:C35254|MESH:D017445|Orphanet:79379	mondo.json	vascular disorders of skin|skin vascular disorder|vascular disease of the skin|vascular skin disease|superficial vasculature disease|vascular disorder of skin|disorder of blood vessels affecting skin|vasculature skin disease	http://purl.obolibrary.org/obo/MONDO_0019293	DOID:9540|http://identifiers.org/mesh/D017445|http://identifiers.org/snomedct/11263005|NCIT:C35254|UMLS:C0162819|Orphanet:79379	ordo_group_of_disorders|disease_grouping
MONDO:0020282	biolink:Disease	obsolete metabolic disease with macular cherry-red spot		UMLS:CN207085|Orphanet:98714	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020282	UMLS:CN207085|Orphanet:98714	ordo_group_of_disorders
MONDO:0020281	biolink:Disease	obsolete metabolic disease with pigmentary retinitis		Orphanet:98713|UMLS:CN207084	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020281	UMLS:CN207084|Orphanet:98713	ordo_group_of_disorders
MONDO:0019296	biolink:Disease	subcutaneous tissue disorder	A disease involving the superficial fascia.	Orphanet:79382|UMLS:C1290008	mondo.json	disease of superficial fascia|disease or disorder of superficial fascia|superficial fascia disease|superficial fascia disease or disorder|disorder of superficial fascia	http://purl.obolibrary.org/obo/MONDO_0019296	UMLS:C1290008|Orphanet:79382	disease_grouping|ordo_group_of_disorders
MONDO:0044252	biolink:Disease	obsolete skin/hair/eye pigmentation, variation in, 6		OMIM:210750	mondo.json	SHEP6|skin/hair/eye pigmentation 6, Blond/Brown hair|skin/hair/eye pigmentation 6, blond/brown hair|skin/hair/eye pigmentation, variation IN, 6|skin/hair/eye pigmentation 6, blue/Green eyes|skin/hair/eye pigmentation 6, blue/green eyes	http://purl.obolibrary.org/obo/MONDO_0044252	https://omim.org/entry/210750	
MONDO:0020280	biolink:Disease	obsolete metabolic disease with cataract		Orphanet:98712|UMLS:CN207083	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020280	UMLS:CN207083|Orphanet:98712	ordo_group_of_disorders
MONDO:0044251	biolink:Disease	obsolete australia antigen		OMIM:209800	mondo.json	Australia antigen	http://purl.obolibrary.org/obo/MONDO_0044251	https://omim.org/entry/209800	
MONDO:0019295	biolink:Disease	obsolete other dermis disorder			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019295		
MONDO:0019290	biolink:Disease	hypopigmentation of the skin	A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections.	Orphanet:79376|HP:0001010|Orphanet:183469|MESH:D017496|MedDRA:10040868	mondo.json	hypopigmentation of the skin|hypopigmentation of the skin (disease)|hypomelanoses|hypomelanosis	http://purl.obolibrary.org/obo/MONDO_0019290	Orphanet:79376|http://identifiers.org/mesh/D017496	disease_grouping|ordo_group_of_disorders
MONDO:0019292	biolink:Disease	dermis elastic tissue disorder		Orphanet:228215|UMLS:CN227616|Orphanet:79378	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019292	UMLS:CN227616|Orphanet:79378	ordo_group_of_disorders|disease_grouping
MONDO:0019291	biolink:Disease	obsolete rare genetic dermis disorder		UMLS:CN227615|Orphanet:79377	mondo.json	dermis disorder	http://purl.obolibrary.org/obo/MONDO_0019291	UMLS:CN227615|Orphanet:79377	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0044258	biolink:Disease	obsolete methane production		OMIM:250650	mondo.json	methane production	http://purl.obolibrary.org/obo/MONDO_0044258	https://omim.org/entry/250650	
MONDO:0044257	biolink:Disease	obsolete lutheran null	OBSOLETE. Autosomal recessive inheritance of the Lutheran null blood group phenotype is extremely rare, and has been reported in only 5 individuals. There is no obvious associated clinical or hematologic pathology, and all patients have been identified through identification of anti-Lu3 antibodies in their serum ({4:Karamatic Crew et al., 2007}).nnThe Lutheran inhibitor blood group phenotype (In(Lu); OMIM:111150) is characterized phenotypically by the apparent absence of the Lu antigen on red blood cells during serologic tests, i.e. Lu(a-b-). Since it is inherited as an autosomal dominant trait, it was initially postulated to result from an inhibitor of the Lu antigen. However, {7:Singleton et al. (2008)} found that the phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene. These 2 forms of Lutheran absence on red blood cells can be differentiated both by the pedigree and by serologic studies.nnAn X-linked recessive form (OMIM:309050) has been rarely reported.	OMIM:247420	mondo.json	blood group, Lutheran null|recessive 50U (A-B-) phenotype|Lutheran null	http://purl.obolibrary.org/obo/MONDO_0044257	https://omim.org/entry/247420	
GO:0042364	biolink:NamedThing	water-soluble vitamin biosynthetic process	The chemical reactions and pathways resulting in the formation of any of a diverse group of vitamins that are soluble in water.		mondo.json	water-soluble vitamin anabolism|water-soluble vitamin biosynthesis|water-soluble vitamin synthesis|water-soluble vitamin formation	http://purl.obolibrary.org/obo/GO_0042364		
MONDO:0020289	biolink:Disease	congenital tricuspid malformation		HP:0001702|Orphanet:98721	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020289	Orphanet:98721	ordo_group_of_disorders|disease_grouping
MONDO:0044259	biolink:Disease	obsolete skin/hair/eye pigmentation, variation in, 2	OBSOLETE. Two types of melanin, the red pheomelanin and the black eumelanin, are present in human skin. {22:Valverde et al. (1995)} noted that eumelanin is photoprotective, whereas pheomelanin may contribute to UV-induced skin damage because of its potential to generate free radicals in response to ultraviolet radiation. Individuals with red hair have a predominance of pheomelanin in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from ultraviolet radiation. In mammals, the relative proportions of pheomelanin and eumelanin are regulated by melanocyte-stimulating hormone (see OMIM:176830), which acts via its receptor (MC1R) on melanocytes to increase the synthesis of eumelanin, and also via the product of the agouti locus (AGTI; OMIM:600201), which antagonizes this action.	OMIM:266300	mondo.json	skin/hair/eye pigmentation 2, red hair/fair skin|Blond hair/fair skin|UV-induced skin damage|SHEP2|Rha|UV-induced skin damage, susceptibility to|skin/hair/eye pigmentation 2, blond hair/fair skin|hair color 2|skin/hair/eye pigmentation, variation IN, 2|Red hair color	http://purl.obolibrary.org/obo/MONDO_0044259	https://omim.org/entry/266300	
MONDO:0020288	biolink:Disease	atrioventricular valve anomaly		Orphanet:98720	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020288	Orphanet:98720	ordo_group_of_disorders|disease_grouping
MONDO:0044254	biolink:Disease	obsolete dermatoglyphics--hypothenar radial arch		OMIM:221780	mondo.json	dermatoglyphics--hypothenar radial arch	http://purl.obolibrary.org/obo/MONDO_0044254	https://omim.org/entry/221780	
MONDO:0020287	biolink:Disease	pulmonary artery or pulmonary branch anomaly		Orphanet:98719	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020287	Orphanet:98719	disease_grouping|ordo_group_of_disorders
MONDO:0044253	biolink:Disease	obsolete dermatoglyphics--palmar triradius d, absence of		OMIM:221760	mondo.json	dermatoglyphics--palmar triradius d, absence of	http://purl.obolibrary.org/obo/MONDO_0044253	https://omim.org/entry/221760	
MONDO:0020286	biolink:Disease	aortic malformation		Orphanet:98718	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020286	Orphanet:98718	disease_grouping|ordo_group_of_disorders
MONDO:0044256	biolink:Disease	obsolete skin/hair/eye pigmentation, variation in, 5		OMIM:227240	mondo.json	skin/hair/eye pigmentation, variation IN, 5|skin/hair/eye pigmentation 5, dark/fair skin|skin/hair/eye pigmentation 5, Black/nonblack hair|skin/hair/eye pigmentation 5, dark/light eyes|skin/hair/eye pigmentation 5, black/nonblack hair|SHEP5	http://purl.obolibrary.org/obo/MONDO_0044256	https://omim.org/entry/227240	
MONDO:0020285	biolink:Disease	transposition of the great arteries and conotruncal cardiac anomaly		Orphanet:98717	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020285	Orphanet:98717	disease_grouping|ordo_group_of_disorders
MONDO:0020284	biolink:Disease	heart position anomaly		Orphanet:98716	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020284	Orphanet:98716	disease_grouping|ordo_group_of_disorders
MONDO:0044255	biolink:Disease	obsolete skin/hair/eye pigmentation, variation in, 1	OBSOLETE. Multiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (OMIM:266300) is determined by variation at the MC1R locus (OMIM:155555) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (OMIM:601800) encompasses pigment variation influenced by the TYR gene (OMIM:606933); SHEP4 (OMIM:113750), that influenced by the SLC24A5 gene (OMIM:609802). Variation in the SLC45A2 (OMIM:606202) and SLC24A4 (OMIM:609840) genes result in the phenotypic associations SHEP5 (OMIM:227240) and SHEP6 (OMIM:210750), respectively. Sequence variation thought to affect expression of KITLG (OMIM:184745) results in the SHEP7 (OMIM:611664) phenotypic association. SHEP8 (OMIM:611724) is associated with variation in the IRF4 gene (OMIM:601900). Polymorphism in the 3-prime untranslated region of the ASIP gene (OMIM:600201) influences the SHEP9 association (OMIM:611742). The SHEP10 association (OMIM:612267) comprises variation in the TPCN2 gene (OMIM:612163), and SHEP11 (OMIM:612271) is associated with polymorphism near the TYRP1 gene (OMIM:115501).	OMIM:227220	mondo.json	eye color, blue/Nonblue|skin/hair/eye pigmentation 1, blue/Brown eyes|hair color 3|skin/hair/eye pigmentation 1, Blond/Brown hair|skin/hair/eye pigmentation 1, blue/Nonblue eyes|eye color 3|skin/hair/eye pigmentation 1, blue/nonblue eyes|skin/hair/eye pigmentation 1, blond/brown hair|skin/hair/eye pigmentation, variation IN, 1|Brown eye color 2|eye color, Brown/blue|SHEP1	http://purl.obolibrary.org/obo/MONDO_0044255	https://omim.org/entry/227220	
GO:0042362	biolink:NamedThing	fat-soluble vitamin biosynthetic process	The chemical reactions and pathways resulting in the formation of any of a diverse group of vitamins that are soluble in organic solvents and relatively insoluble in water.		mondo.json	fat-soluble vitamin biosynthesis|fat-soluble vitamin synthesis|fat-soluble vitamin formation|fat-soluble vitamin anabolism	http://purl.obolibrary.org/obo/GO_0042362		
GO:0042368	biolink:NamedThing	vitamin D biosynthetic process	The chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3).		mondo.json	vitamin D anabolism|vitamin D synthesis|vitamin D formation|vitamin D biosynthesis|calciferol biosynthesis|calciferol biosynthetic process|cholecalciferol biosynthesis|cholecalciferol biosynthetic process|ergocalciferol biosynthetic process|ergocalciferol biosynthesis	http://purl.obolibrary.org/obo/GO_0042368		
MONDO:0019298	biolink:Disease	obsolete rare urticaria	OBSOLETE. Rare urticaria.	Orphanet:79384	mondo.json	rare urticaria (disease)|rare urticaria|rare hives	http://purl.obolibrary.org/obo/MONDO_0019298	Orphanet:79384	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0019297	biolink:Disease	lymphedema	Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes.	MESH:D008209|MedDRA:10025282|ICD9:457.1|DOID:4977|Orphanet:79383|UMLS:C0024236|SCTID:234097001|GARD:0012563|NCIT:C3207	mondo.json	lymphatic edema|lymphatic edema (morphologic abnormality)|lymphoedema	http://purl.obolibrary.org/obo/MONDO_0019297	NCIT:C3207|http://identifiers.org/snomedct/234097001|http://identifiers.org/mesh/D008209|UMLS:C0024236|DOID:4977|Orphanet:79383	disease_grouping|ordo_group_of_disorders
CHEBI:5686	biolink:ChemicalSubstance	heterocyclic compound	A cyclic compound having as ring members atoms of at least two different elements.		mondo.json	compuestos heterociclicos|Heterocyclic compound|heterocyclic compounds|heterocycle|compuesto heterociclico	http://purl.obolibrary.org/obo/CHEBI_5686		
MONDO:0019299	biolink:Disease	obsolete unclassified genetic skin disorder		Orphanet:79385|UMLS:CN205933	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019299	UMLS:CN205933|Orphanet:79385	ordo_group_of_disorders|disease_grouping
MONDO:0019283	biolink:Disease	nail anomaly	A epidermal appendage anomaly that involves the nail.	MedDRA:10028684|Orphanet:79368	mondo.json	nail epidermal appendage anomaly|epidermal appendage anomaly of nail	http://purl.obolibrary.org/obo/MONDO_0019283	Orphanet:79368	ordo_group_of_disorders|disease_grouping
MONDO:0020272	biolink:Disease	obsolete connective tissue disease with eye involvement			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020272		
MONDO:0044261	biolink:Disease	obsolete menoq1		OMIM:300488	mondo.json	menopause, natural, AGE AT, quantitative trait locus 1|MENOQ1|menopause, natural, age at, QTL1, X-linked dominant	http://purl.obolibrary.org/obo/MONDO_0044261	https://omim.org/entry/300488	
MONDO:0044260	biolink:Disease	obsolete ec1		HGNC:7832	mondo.json	EC1|susceptibility to lysis by ALLOREACTIVE natural KILLER cells|natural Killer cell susceptibility 1	http://purl.obolibrary.org/obo/MONDO_0044260		
MONDO:0019282	biolink:Disease	obsolete syndromic hair shaft abnormality		UMLS:CN227611|Orphanet:79367	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019282	UMLS:CN227611|Orphanet:79367	ordo_group_of_disorders
MONDO:0020271	biolink:Disease	obsolete phakomatosis with eye involvement		Orphanet:98701	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020271	Orphanet:98701	disease_grouping|ordo_group_of_disorders
MONDO:0020270	biolink:Disease	obsolete pigmentation disorder with eye involvement		UMLS:CN227844|Orphanet:98700	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020270	UMLS:CN227844|Orphanet:98700	ordo_group_of_disorders
MONDO:0019285	biolink:Disease	obsolete syndromic nail anomaly	OBSOLETE. A nail anomaly that is part of a larger syndrome.	Orphanet:79370|UMLS:CN227613	mondo.json	syndromic nail anomaly|syndrome associated with nail anomaly	http://purl.obolibrary.org/obo/MONDO_0019285	UMLS:CN227613|Orphanet:79370	disease_grouping|ordo_group_of_disorders
MONDO:0044263	biolink:Disease	obsolete lutheran suppressor, x-linked	OBSOLETE. An X-linked recessive inhibitor (XS) of the Lutheran blood group system (OMIM:111200) has been reported.nnFor a discussion of Lutheran blood group phenotypes, see OMIM:247420.	HGNC:12837	mondo.json	LuxS|Lutheran suppressor, X-linked|XS	http://purl.obolibrary.org/obo/MONDO_0044263		
MONDO:0044262	biolink:Disease	obsolete cyanide, inability to smell		OMIM:304300	mondo.json	cyanide, inability to smell	http://purl.obolibrary.org/obo/MONDO_0044262	https://omim.org/entry/304300	
MONDO:0019284	biolink:Disease	inherited isolated nail anomaly	A nail anomaly that is not part of a larger syndrome.	Orphanet:79369|OMIMPS:161050	mondo.json	nonsyndromic nail anomaly|nail disorder, nonsyndromic congenital|isolated nail anomaly	http://purl.obolibrary.org/obo/MONDO_0019284	https://omim.org/phenotypicSeries/PS161050|Orphanet:79369	ordo_group_of_disorders|disease_grouping
MONDO:0019281	biolink:Disease	isolated genetic hair shaft abnormality		Orphanet:79366	mondo.json	isolated hair shaft abnormality	http://purl.obolibrary.org/obo/MONDO_0019281	Orphanet:79366	ordo_group_of_disorders|disease_grouping
MONDO:0019280	biolink:Disease	hypertrichosis	Excessive hair growth anywhere on the body.	SCTID:29966009|DOID:420|MedDRA:10020864|Orphanet:79365|UMLS:C0020555|HP:0000998|MESH:D006983	mondo.json	hypertrichosis|hypertrichosis (disease)	http://purl.obolibrary.org/obo/MONDO_0019280	http://identifiers.org/mesh/D006983|UMLS:C0020555|http://identifiers.org/snomedct/29966009|DOID:420|Orphanet:79365	ordo_group_of_disorders|disease_grouping
MONDO:0044269	biolink:Disease	obsolete novelty seeking personality trait	OBSOLETE. Human personality traits that can be reliably measured by rating scales show a considerable heritable component. One such instrument is the tridimensional personality questionnaire (TPQ), which was designed by {6:Cloninger et al. (1993)} to measure 4 distinct domains of temperament--novelty seeking, harm avoidance, reward dependence, and persistence--that are hypothesized to be based on distinct neurochemical and genetic substrates.nnRisk-taking is a characteristic of behaviors that occur under conditions of uncertainty and involves a tradeoff between beneficial versus detrimental outcomes, perceived or real. Risk-taking may or may not involve conscious evaluation of the probability and magnitude of possible outcomes ({1:Anokhin et al., 2009}).nnSee also harm avoidance (OMIM:607834) and pathologic gambling (OMIM:606349), which may be related.	OMIM:601696	mondo.json	novelty seeking personality trait|risk-taking behavior	http://purl.obolibrary.org/obo/MONDO_0044269	https://omim.org/entry/601696	
MONDO:0044268	biolink:Disease	obsolete transsexuality		OMIM:600952	mondo.json	TRANSSEXUALITY	http://purl.obolibrary.org/obo/MONDO_0044268	https://omim.org/entry/600952	
MONDO:0020279	biolink:Disease	obsolete metabolic disease with corneal opacity		UMLS:CN207082|Orphanet:98711	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020279	UMLS:CN207082|Orphanet:98711	ordo_group_of_disorders
MONDO:0020278	biolink:Disease	obsolete metabolic disease associated with ocular features		UMLS:CN207081|Orphanet:98710	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020278	UMLS:CN207081|Orphanet:98710	ordo_group_of_disorders
MONDO:0020277	biolink:Disease	obsolete ectodermal malformation syndrome associated with ocular features			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020277		
MONDO:0020276	biolink:Disease	obsolete pigmentation disorder with eye involvement, excluding albinism		UMLS:CN227845|Orphanet:98708	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020276	UMLS:CN227845|Orphanet:98708	ordo_group_of_disorders
MONDO:0044265	biolink:Disease	obsolete tooth size		OMIM:314240	mondo.json	tooth size	http://purl.obolibrary.org/obo/MONDO_0044265	https://omim.org/entry/314240	
MONDO:0044264	biolink:Disease	obsolete radial loop, plain, on right index finger		OMIM:312200	mondo.json	radial loop, plain, ON right index finger	http://purl.obolibrary.org/obo/MONDO_0044264	https://omim.org/entry/312200	
MONDO:0020275	biolink:Disease	oculocutaneous or ocular albinism	Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism.	Orphanet:98706	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020275	Orphanet:98706	disease_grouping|ordo_group_of_disorders
MONDO:0020274	biolink:Disease	obsolete onycho-patellar syndrome with eye involvement		Orphanet:98704|UMLS:CN207079	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020274	Orphanet:98704|UMLS:CN207079	ordo_group_of_disorders
MONDO:0044267	biolink:Disease	obsolete gcy		HGNC:4211	mondo.json	growth control, Y-chromosome influenced|tooth size|stature|GCY	http://purl.obolibrary.org/obo/MONDO_0044267		
MONDO:0044266	biolink:Disease	obsolete xm system	OBSOLETE. Berg and Bearn (1966, 1966) discovered an X-linked serum protein type by means of heteroantiserum made specific by absorption. Since the group-specific antigen appears to be located in the alpha-2-macroglobulin of serum, the name Xm was assigned to the system. The distribution of phenotypes in families and in populations was consistent with X-linkage.	HGNC:12813	mondo.json	XM system	http://purl.obolibrary.org/obo/MONDO_0044266		
MONDO:0020273	biolink:Disease	obsolete disease with potential neoplastic degeneration associated with ocular features		Orphanet:98703|UMLS:CN207078	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020273	Orphanet:98703|UMLS:CN207078	ordo_group_of_disorders
MONDO:0019287	biolink:Disease	ectodermal dysplasia syndrome	The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.	DOID:2121|OMIMPS:305100|SCTID:8654005|NCIT:C84683|UMLS:C0013575|Orphanet:79373|MESH:D004476|ICD9:757.31|MedDRA:10010452|GARD:0006317	mondo.json	ectodermal dysplasia (select examples)|ectodermal dysplasia|congenital ectodermal defect	http://purl.obolibrary.org/obo/MONDO_0019287	Orphanet:79373|http://identifiers.org/mesh/D004476|NCIT:C84683|https://omim.org/phenotypicSeries/PS305100|http://identifiers.org/snomedct/8654005|UMLS:C0013575|DOID:2121	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0019286	biolink:Disease	sebaceous gland anomaly	A epidermal appendage anomaly that involves the sebaceous gland.	Orphanet:79372	mondo.json	epidermal appendage anomaly of sebaceous gland|sebaceous gland epidermal appendage anomaly	http://purl.obolibrary.org/obo/MONDO_0019286	Orphanet:79372	disease_grouping|ordo_group_of_disorders
MONDO:0019289	biolink:Disease	hyperpigmentation of the skin		SCTID:49765009|EFO:0009047|ICD9:709.09|Orphanet:79375|Orphanet:183466|HP:0000953	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019289	Orphanet:79375|http://identifiers.org/snomedct/49765009	ordo_group_of_disorders|disease_grouping
MONDO:0019288	biolink:Disease	skin pigmentation disorder	A pigmentation disease that involves the zone of skin.	EFO:1000755|Orphanet:79374|ICD9:709.09|DOID:10123|MESH:D010859	mondo.json	pigmentation disease|zone of skin pigmentation disease|pigmentation anomaly of the skin|pigmentation disease of zone of skin	http://purl.obolibrary.org/obo/MONDO_0019288	Orphanet:79374|http://identifiers.org/mesh/D010859|DOID:10123	ordo_group_of_disorders|disease_grouping
MONDO:0019272	biolink:Disease	hereditary palmoplantar keratoderma	An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome.	ICD9:757.39|Orphanet:79357|SCTID:239066003	mondo.json	hereditary palmoplantar hyperkeratosis|hereditary keratosis palmoplantaris|hereditary PPK|hereditary palmoplantar keratosis	http://purl.obolibrary.org/obo/MONDO_0019272	http://identifiers.org/snomedct/239066003|Orphanet:79357	ordo_group_of_disorders|disease_grouping
MONDO:0020261	biolink:Disease	obsolete neurological disease with abnormal eye movements		Orphanet:98691	mondo.json	abnormal eye movements	http://purl.obolibrary.org/obo/MONDO_0020261	Orphanet:98691	
MONDO:0044272	biolink:Disease	obsolete body mass index quantitative trait locus 9		OMIM:602025	mondo.json	BMIQ9|obesity, susceptibility to|obesity, severe, susceptibility to, BMIQ9|body MASS index quantitative trait locus 9	http://purl.obolibrary.org/obo/MONDO_0044272	https://omim.org/entry/602025	
MONDO:0044271	biolink:Disease	obsolete bone mineral density quantitative trait locus 1		OMIM:601884	mondo.json	osteoporosis, susceptibility to|bone mineral density variability 1|high bone Mass|BMND1|bone mineral density quantitative trait locus 1	http://purl.obolibrary.org/obo/MONDO_0044271	https://omim.org/entry/601884	
MONDO:0019271	biolink:Disease	acrokeratoderma		Orphanet:79356	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019271	Orphanet:79356	ordo_group_of_disorders|disease_grouping
MONDO:0020260	biolink:Disease	obsolete myasthenic syndrome with eye involvement		UMLS:CN207074|Orphanet:98690	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020260	Orphanet:98690|UMLS:CN207074	disease_grouping|ordo_group_of_disorders
MONDO:0019274	biolink:Disease	obsolete other epidermal disorder		UMLS:CN227609|Orphanet:79359	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019274	Orphanet:79359|UMLS:CN227609	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0044274	biolink:Disease	obsolete hemoglobin, high altitude adaptation	OBSOLETE. Individuals with high altitude adaptation hemoglobin can survive in extremely hypoxic conditions without an increase in hematocrit or the development of erythrocytosis or polycythemia vera (summary by {3:Lorenzo et al., 2014}).	OMIM:609070	mondo.json	HALAH|HEMOGLOBIN, high altitude adaptation|Hemoglobin, high oxygen saturation of|hemoglobin, high altitude adaptation	http://purl.obolibrary.org/obo/MONDO_0044274	https://omim.org/entry/609070	
MONDO:0044273	biolink:Disease	obsolete hypertension, diastolic, resistance to		OMIM:608622	mondo.json	hypertension, diastolic, resistance to	http://purl.obolibrary.org/obo/MONDO_0044273	https://omim.org/entry/608622	
MONDO:0019273	biolink:Disease	obsolete porokeratosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019273		
MONDO:0019270	biolink:Disease	erythrokeratoderma	An umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. Typically, these lesions are distributed symmetrically on the body and tend to slowly expand and progress over time.	ICD9:757.39|Orphanet:79355|MedDRA:10015280|SCTID:254215005	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019270	http://identifiers.org/snomedct/254215005|Orphanet:79355	ordo_group_of_disorders|disease_grouping
MONDO:0044270	biolink:Disease	obsolete bilirubin, serum level of, quantitative trait locus 1		OMIM:601816	mondo.json	BILIQTL1|bilirubin, serum level OF, quantitative trait locus 1|bilirubin, serum level of, QTL1	http://purl.obolibrary.org/obo/MONDO_0044270	https://omim.org/entry/601816	
MONDO:0020269	biolink:Disease	obsolete syndromic ichthyosis associated with ocular features	OBSOLETE. A ichthyosis associated with ocular features that is part of a larger syndrome.	UMLS:CN227843|Orphanet:98699	mondo.json	syndromic ichthyosis associated with ocular features|syndrome associated with ichthyosis associated with ocular features	http://purl.obolibrary.org/obo/MONDO_0020269	UMLS:CN227843|Orphanet:98699	
MONDO:0044279	biolink:Disease	obsolete bone mineral density quantitative trait locus 15		OMIM:613418	mondo.json	compression fracture, susceptibility to|bone mineral density quantitative trait locus 15|bone mineral density QTL 15|osteoporosis, susceptibility to|BMND15|metaphyseal fracture, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0044279	https://omim.org/entry/613418	
MONDO:0020268	biolink:Disease	obsolete ichthyosis associated with ocular features		Orphanet:98698	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020268	Orphanet:98698	ordo_group_of_disorders|disease_grouping
MONDO:0007289	biolink:Disease	cataract 13 with adult I phenotype	A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.	UMLS:C3805373|OMIM:116700|DOID:0110242	mondo.json	cataract 13 with ADULT I phenotype|cataract 13 with adult I phenotype|CTRCT13	http://purl.obolibrary.org/obo/MONDO_0007289	DOID:0110242|https://omim.org/entry/116700|UMLS:C3805373	
MONDO:0020267	biolink:Disease	obsolete genetic keratinization disorder associated with ocular features		UMLS:CN227842|Orphanet:98697	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020267	UMLS:CN227842|Orphanet:98697	ordo_group_of_disorders
MONDO:0020266	biolink:Disease	obsolete genodermatosis with ocular features		Orphanet:98696	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020266	Orphanet:98696	ordo_group_of_disorders
MONDO:0044276	biolink:Disease	obsolete skin/hair/eye pigmentation, variation in, 11		OMIM:612271	mondo.json	SHEP11|Melanesian blond hair|skin/hair/eye pigmentation 11, blue/Nonblue eyes|skin/hair/eye pigmentation, variation IN, 11|skin/hair/eye pigmentation, variation in, 11 (melanesian blond hair)	http://purl.obolibrary.org/obo/MONDO_0044276	https://omim.org/entry/612271	
MONDO:0020265	biolink:Disease	obsolete mitochondrial disease with eye involvement		UMLS:CN207076|Orphanet:98695	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020265	UMLS:CN207076|Orphanet:98695	ordo_group_of_disorders
MONDO:0007287	biolink:Disease	cataract 41	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the WFS1 gene.	OMIM:116400|UMLS:C3805412|DOID:0110241	mondo.json	CTRCT41|congenital nuclear type cataract 41|cataract 41|WFS1 early-onset non-syndromic cataract|early-onset non-syndromic cataract caused by mutation in WFS1|cataract 41, congenital nuclear type|cataract type 41	http://purl.obolibrary.org/obo/MONDO_0007287	DOID:0110241|https://omim.org/entry/116400|UMLS:C3805412	
MONDO:0007288	biolink:Disease	cataract 6 multiple types	Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene.	DOID:0110229|Orphanet:98993|Orphanet:98994|OMIM:116600|GARD:0010234	mondo.json	cataract, age-related cortical, 2|CTRCT6|cataract 6, multiple types|CTPA|CTPP|Posterior polar cataract, 1|age related cortical cataract 2|cataract (disease) caused by mutation in EPHA2|ARCC2|cataract, posterior polar, 1|CTPP1|EPHA2 cataract (disease)|posterior polar cataract 1	http://purl.obolibrary.org/obo/MONDO_0007288	DOID:0110229|https://omim.org/entry/116600	
MONDO:0020264	biolink:Disease	obsolete spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly		Orphanet:98694	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020264	Orphanet:98694	ordo_group_of_disorders|disease_grouping
MONDO:0044275	biolink:Disease	obsolete carotid intimal medial thickness 1		OMIM:609338	mondo.json	Cimt1|intimal medial thickness of internal carotid artery|carotid intimal medial thickness 1	http://purl.obolibrary.org/obo/MONDO_0044275	https://omim.org/entry/609338	
MONDO:0007285	biolink:Disease	cataract 1 multiple types	Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene.	Orphanet:98984|OMIM:116200|UMLS:C1861828|Orphanet:1377|DOID:0110231|Orphanet:91492|MESH:C566158	mondo.json	zonular pulverulent cataract 1|cataract, zonular pulverulent, 1|cataract 1, multiple types|CTRCT1|GJA8 cataract (disease)|cataract, Duffy-linked|CAE1|cataract 1, multiple types, with or without microcornea|CZP1|cataract (disease) caused by mutation in GJA8|Duffy linked cataract	http://purl.obolibrary.org/obo/MONDO_0007285	DOID:0110231|http://identifiers.org/mesh/C566158|UMLS:C1861828|https://omim.org/entry/116200	
MONDO:0044278	biolink:Disease	obsolete short sleeper	OBSOLETE. In a review of various classification schemes for sleep disorders, {2:Thorpy (1990)} listed 'short sleeper' under the broad category of 'disorders of initiating and maintaining sleep' (DIMS); however, the short sleeper phenotype or trait is not considered a sleep disorder. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group.nnSee also familial advanced sleep-phase syndrome (FASPS; OMIM:604348), which is a distinct disorder characterized by very early sleep onset and offset.	OMIMPS:612975	mondo.json	short sleep phenotype|short sleeper	http://purl.obolibrary.org/obo/MONDO_0044278	https://omim.org/phenotypicSeries/PS612975	
MONDO:0020263	biolink:Disease	obsolete spinocerebellar ataxia with oculomotor anomaly		Orphanet:98693	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020263	Orphanet:98693	disease_grouping|ordo_group_of_disorders
MONDO:0007286	biolink:Disease	cataract 30	A cataract that has material basis in heterozygous mutation in the VIM gene on chromosome 10p13.	MESH:C566157|DOID:0110248|UMLS:C3805411|OMIM:116300	mondo.json	cataract Coppock-like|cataract 30, pulverulent|cataract type 30|cataract 30 pulverulent|cataract 30|cataract 30, multiple types|CTRCT30	http://purl.obolibrary.org/obo/MONDO_0007286	https://omim.org/entry/116300|DOID:0110248|UMLS:C3805411|http://identifiers.org/mesh/C566157	
MONDO:0044277	biolink:Disease	obsolete uric acid concentration, serum, quantitative trait locus 4		OMIM:612671	mondo.json	UAQTL4|Uric acid concentration, serum, QTL4|uric acid concentration, serum, quantitative trait locus 4|gout susceptibility 4	http://purl.obolibrary.org/obo/MONDO_0044277	https://omim.org/entry/612671	
MONDO:0020262	biolink:Disease	obsolete nervous system anomaly with eye involvement		Orphanet:98692	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020262	Orphanet:98692	disease_grouping|ordo_group_of_disorders
MONDO:0007283	biolink:Disease	cataract 42	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene.	DOID:0110237|UMLS:C4011454|OMIM:115900	mondo.json	early-onset non-syndromic cataract caused by mutation in CRYBA2|CTRCT42|CRYBA2 early-onset non-syndromic cataract|cataract type 42|cataract 42|A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35.	http://purl.obolibrary.org/obo/MONDO_0007283	https://omim.org/entry/115900|UMLS:C4011454|DOID:0110237	
MONDO:0007284	biolink:Disease	cataract 20 multiple types	Any cataract (disease) in which the cause of the disease is a mutation in the CRYGS gene.	Orphanet:98994|OMIM:116100|DOID:0110240	mondo.json	CRYGS cataract (disease)|CTRCT20|cataract 20, multiple types|cataract (disease) caused by mutation in CRYGS	http://purl.obolibrary.org/obo/MONDO_0007284	DOID:0110240|https://omim.org/entry/116100	
HGNC:30185	biolink:NamedThing	CRBN			mondo.json		http://identifiers.org/hgnc/30185		
MONDO:0007281	biolink:Disease	cataract 4 multiple types	Any cataract (disease) in which the cause of the disease is a mutation in the CRYGD gene.	Orphanet:98991|DOID:0110234|Orphanet:98990|Orphanet:98989|OMIM:115700|Orphanet:98995|Orphanet:91492	mondo.json	CRYGD cataract (disease)|cataract, congenital, cerulean type, 3|cataract 4 multiple types with or without microcornea|cataract 4, multiple types|cataract, Nonnuclear polymorphic congenital|cataract, crystalline aculeiform|cataract, punctate, progressive juvenile-onset|CTRCT4|congenital cataract cerulean type 3|cataract 4, multiple types, with or without microcornea|CCA3|cataract (disease) caused by mutation in CRYGD	http://purl.obolibrary.org/obo/MONDO_0007281	https://omim.org/entry/115700|DOID:0110234	
HGNC:29186	biolink:NamedThing	ANKRD26			mondo.json		http://identifiers.org/hgnc/29186		
MONDO:0007282	biolink:Disease	cataract 29	A cataract that has material basis in variation in the region 2pter-p24.	UMLS:C3805409|DOID:0110232|OMIM:115800	mondo.json	cataract type 29|CTRCT29|cataract 29, coralliform|cataract 29 coralliform|cataract 29	http://purl.obolibrary.org/obo/MONDO_0007282	https://omim.org/entry/115800|UMLS:C3805409|DOID:0110232	
MONDO:0007280	biolink:Disease	cataract 8 multiple types	A cataract that has material basis in variation in the region 1pter-p36.13.	OMIM:115665|MESH:C538285|Orphanet:98983|UMLS:C1861833|DOID:0110228|GARD:0001146	mondo.json	cataract 8, multiple types|cataract congenital Volkmann type|CTRCT8|cataract, congenital, Volkmann type	http://purl.obolibrary.org/obo/MONDO_0007280	https://omim.org/entry/115665|http://identifiers.org/mesh/C538285|UMLS:C1861833|DOID:0110228	
HGNC:29182	biolink:NamedThing	CEP164			mondo.json		http://identifiers.org/hgnc/29182		
MONDO:0020259	biolink:Disease	obsolete myopathy with eye involvement		Orphanet:98689	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020259	Orphanet:98689	ordo_group_of_disorders
MONDO:0019279	biolink:Disease	obsolete alopecia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019279		
MONDO:0019276	biolink:Disease	inherited epidermolysis bullosa	Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.	ICD9:757.39|SCTID:402781004|Orphanet:79361	mondo.json	epidermolysis bullosa hereditaria|hereditary epidermolysis bullosa	http://purl.obolibrary.org/obo/MONDO_0019276	Orphanet:79361|http://identifiers.org/snomedct/402781004	ordo_group_of_disorders|disease_grouping
MONDO:0019275	biolink:Disease	obsolete other genetic epidermal disease		Orphanet:79360|UMLS:CN205922	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019275	Orphanet:79360|UMLS:CN205922	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0019278	biolink:Disease	hair anomaly		Orphanet:79363	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019278	Orphanet:79363	ordo_group_of_disorders|disease_grouping
MONDO:0019277	biolink:Disease	epidermal appendage anomaly		Orphanet:79362	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019277	Orphanet:79362	ordo_group_of_disorders|disease_grouping
MONDO:0020250	biolink:Disease	autosomal dominant optic atrophy	An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.	UMLS:C0338508|GARD:0011972|SCTID:2065009|NCIT:C84577|Orphanet:98672|MESH:D029241	mondo.json	dominant optic atrophy|DOA|ADOA|optic atrophy, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0020250	NCIT:C84577|Orphanet:98672|UMLS:C0338508|http://identifiers.org/snomedct/2065009|http://identifiers.org/mesh/D029241	ordo_group_of_disorders|disease_grouping
MONDO:0019261	biolink:Disease	infantile neuronal ceroid lipofuscinosis	A form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.	SCTID:58258004|Orphanet:79263	mondo.json	Santavuori disease|infantile NCL|Hagberg-Santavuori disease|INCL|Santavuori-Haltia disease	http://purl.obolibrary.org/obo/MONDO_0019261	Orphanet:79263|http://identifiers.org/snomedct/58258004	ordo_disease
MONDO:0044283	biolink:Disease	obsolete body mass index quantitative trait locus 18		OMIM:615457	mondo.json	obesity, susceptibility to, BMIQ18|obesity, susceptibility to|BMIQ18|body MASS index quantitative trait locus 18	http://purl.obolibrary.org/obo/MONDO_0044283	https://omim.org/entry/615457	
MONDO:0019260	biolink:Disease	adult neuronal ceroid lipofuscinosis	A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.	SCTID:62009002|UMLS:C0022797|Orphanet:79262|GARD:0010973|UMLS:CN205864	mondo.json	CLN4 disease, adult autosomal dominant|Kufs disease|neuronal ceroid lipofuscinosis 4|adult NCL|ANCL|Kuf's disease|adult neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis of adults	http://purl.obolibrary.org/obo/MONDO_0019260	Orphanet:79262|UMLS:C0022797|UMLS:CN205864|http://identifiers.org/snomedct/62009002	gard_rare|ordo_disease
MONDO:0044282	biolink:Disease	obsolete blood group, vel system	OBSOLETE. The Vel blood group system is defined by the presence of the Vel antigen on red blood cells. Vel is a high frequency antigen that shows variable strength, ranging from strong to weak. The rare Vel-negative blood type is inherited as an autosomal recessive trait and is typically unveiled when Vel-negative individuals develop anti-Vel antibodies after transfusion or pregnancy; Vel alloantibodies are never 'naturally occurring.' Individuals with anti-Vel antibodies may develop severe acute hemolytic transfusion reactions when transfused with Vel-positive blood. Individuals negative for the Vel antigen are rare and are required for the safe transfusion of patients with antibodies to Vel (summary by {3:Daniels, 2002}; {5:Storry et al., 2013}; {2:Cvejic et al., 2013}; {1:Ballif et al., 2013}).	OMIM:615264	mondo.json	blood group, VEL system|Vel-null phenotype|blood group, Vel system|VEL	http://purl.obolibrary.org/obo/MONDO_0044282	https://omim.org/entry/615264	
MONDO:0019263	biolink:Disease	autosomal erythropoietic protoporphyria	Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.	MedDRA:10015289|Orphanet:79278	mondo.json	EPP	http://purl.obolibrary.org/obo/MONDO_0019263	Orphanet:79278	ordo_disease
GO:0042391	biolink:NamedThing	regulation of membrane potential	Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane.		mondo.json		http://purl.obolibrary.org/obo/GO_0042391		
MONDO:0019262	biolink:Disease	juvenile neuronal ceroid lipofuscinosis	A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.	SCTID:61663001|MedDRA:10052073|DOID:0050756|Orphanet:79264	mondo.json	juvenile neuronal ceroid lipofuscinosis|juvenile NCL|Spielmeyer-Vogt disease|batten disease|JNCL	http://purl.obolibrary.org/obo/MONDO_0019262	Orphanet:79264|http://identifiers.org/snomedct/61663001	ordo_disease
MONDO:0044284	biolink:Disease	obsolete blood group, gerbich system	OBSOLETE. The Gerbich blood group system contains 6 high-prevalence and 5 low-prevalence antigens that are expressed on glycophorin C (GPC), glycophorin D (GPD), or both GPC and GPD. GPC and GPD, which contribute stability to the red blood cell membrane, are encoded by the same gene, GYPC, through the use of alternative translational start sites. Deficiency of GPC and GPD is associated with hereditary elliptocytosis, and Gerbich antigens act as receptors for the malarial parasite Plasmodium falciparum (see OMIM:611162). The Gerbich antibodies anti-Ge2 and anti-Ge3 have caused hemolytic transfusion reactions, and anti-Ge3 has produced hemolytic disease of the fetus and newborn (review by {12:Walker and Reid, 2010}).	OMIM:616089	mondo.json	blood group, Gerbich system|blood group, Gerbich|Gerbich blood Group system|GE	http://purl.obolibrary.org/obo/MONDO_0044284	https://omim.org/entry/616089	
RO:0002380	biolink:NamedThing	branching part of	x is a branching part of y if and only if x is part of y and x is connected directly or indirectly to the main stem of y		mondo.json		http://purl.obolibrary.org/obo/RO_0002380		
MONDO:0044281	biolink:Disease	obsolete c3hex, ability to smell	OBSOLETE. Cis-3-hexen-1-ol (C3HEX) is present in a wide range of foods and beverages, including wine and spirits, olive oil, vegetables, fruit, and green tea. C3HEX is commonly associated with sensory characteristics such as 'green' and 'grassy.' The probability of an individual's ability to detect C3HEX at a particular intensity (the R-index) can be estimated, and the threshold for detection is normally distributed (summary by {1:Jaeger et al., 2010}).	OMIM:615082	mondo.json	C3HEX, ability to smell	http://purl.obolibrary.org/obo/MONDO_0044281	https://omim.org/entry/615082	
MONDO:0044280	biolink:Disease	obsolete glycerol quantitative trait locus		OMIM:614411	mondo.json	Glycerol release during exercise, defective|glycerol quantitative trait locus|GLYCEROL quantitative trait locus|GLYCQTL|body Mass index quantitative trait locus 17	http://purl.obolibrary.org/obo/MONDO_0044280	https://omim.org/entry/614411	
GO:0042398	biolink:NamedThing	cellular modified amino acid biosynthetic process	The chemical reactions and pathways resulting in the formation of compounds derived from amino acids, organic acids containing one or more amino substituents.		mondo.json	cellular modified amino acid anabolism|cellular amino acid derivative synthesis|amino acid derivative biosynthetic process|cellular modified amino acid synthesis|cellular amino acid derivative formation|cellular modified amino acid formation|cellular modified amino acid biosynthesis|cellular amino acid derivative biosynthetic process|cellular amino acid derivative biosynthesis|cellular amino acid derivative anabolism	http://purl.obolibrary.org/obo/GO_0042398		
MONDO:0020258	biolink:Disease	obsolete oculomotor apraxia or related oculomotor disease		UMLS:CN207073|Orphanet:98688	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020258	UMLS:CN207073|Orphanet:98688	
RO:0002385	biolink:NamedThing	has potential to developmentally contribute to	x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y		mondo.json		http://purl.obolibrary.org/obo/RO_0002385		
MONDO:0020257	biolink:Disease	supranuclear oculomotor palsy	Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement.	GARD:0008403|Orphanet:98687	mondo.json	conjugate gaze palsy|supranuclear disorder of eye movement|gaze palsy|supranuclear ocular palsy	http://purl.obolibrary.org/obo/MONDO_0020257	Orphanet:98687	gard_rare|ordo_group_of_disorders|disease_grouping
RO:0002386	biolink:NamedThing	has potential to developmentally induce	x has potential to developmentally induce y iff x developmentally induces y or x is capable of developmentally inducing y		mondo.json		http://purl.obolibrary.org/obo/RO_0002386		
RO:0002387	biolink:NamedThing	has potential to develop into	x has the potential to develop into y iff x develops into y or if x is capable of developing into y		mondo.json		http://purl.obolibrary.org/obo/RO_0002387		
MONDO:0020256	biolink:Disease	congenital trochlear nerve palsy		Orphanet:98686	mondo.json	congenital fourth cranial nerve palsy|congenital CNIV palsy|congenital superior oblique palsy	http://purl.obolibrary.org/obo/MONDO_0020256	Orphanet:98686	ordo_disease
RO:0002388	biolink:NamedThing	has potential to directly develop into	x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y		mondo.json		http://purl.obolibrary.org/obo/RO_0002388		
MONDO:0020255	biolink:Disease	obsolete oculomotor palsy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020255		
MONDO:0007298	biolink:Disease	spinocerebellar ataxia type 29	Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.	Orphanet:208513|GARD:0010480|SCTID:715825009|DOID:0050978|UMLS:C4274987|OMIM:117360|UMLS:C1861732|MESH:C537206	mondo.json	cerebellar ataxia early-onset nonprogressive|aplasia of cerebellar vermis|SCA29|ACV|spinocerebellar ataxia 29|cerebellar ataxia, congenital nonprogressive, autosomal dominant|congenital nonprogressive spinocerebellar ataxia|spinocerebellar ataxia type 29|spinocerebellar ataxia 29, congenital nonprogressive|cerebellar vermis aplasia	http://purl.obolibrary.org/obo/MONDO_0007298	DOID:0050978|http://identifiers.org/snomedct/715825009|http://identifiers.org/mesh/C537206|UMLS:C1861732|https://omim.org/entry/117360|Orphanet:208513	ordo_disease
MONDO:0020254	biolink:Disease	obsolete craniostenosis associated with a strabismus		Orphanet:98684	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020254	Orphanet:98684	ordo_group_of_disorders|disease_grouping
MONDO:0007299	biolink:Disease	Sotos syndrome 1	Any Sotos syndrome in which the cause of the disease is a mutation in the NSD1 gene.	UMLS:CN035106|SCTID:75968004|OMIM:117550	mondo.json	cerebral gigantism|Sotos syndrome type 1|SOTOS1|chromosome 5Q35 deletion syndrome|Sotos syndrome caused by mutation in NSD1|Sotos syndrome|Sotos syndrome 1|NSD1 Sotos syndrome	http://purl.obolibrary.org/obo/MONDO_0007299	UMLS:CN035106|http://identifiers.org/snomedct/75968004|https://omim.org/entry/117550	
MONDO:0020253	biolink:Disease	obsolete syndrome with a symptomatic strabismus		UMLS:CN207072|Orphanet:98683	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020253	UMLS:CN207072|Orphanet:98683	ordo_group_of_disorders
MONDO:0007296	biolink:Disease	spinocerebellar ataxia type 31	Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.	UMLS:C1861736|DOID:0050980|OMIM:117210|GARD:0009975|Orphanet:217012|SCTID:715826005|UMLS:C4274986|MESH:C566146	mondo.json	spinocerebellar ataxia 16q22-linked|SCA31|spinocerebellar ataxia 31|spinocerebellar ataxia, 16Q22-linked|spinocerebellar ataxia type 31	http://purl.obolibrary.org/obo/MONDO_0007296	Orphanet:217012|http://identifiers.org/snomedct/715826005|http://identifiers.org/mesh/C566146|UMLS:C1861736|https://omim.org/entry/117210|DOID:0050980	ordo_disease
MONDO:0020252	biolink:Disease	essential strabismus		Orphanet:98682	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020252	Orphanet:98682	ordo_disease
MONDO:0020251	biolink:Disease	obsolete rare strabismus and restriction syndrome		Orphanet:98681|UMLS:CN207070	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020251	Orphanet:98681|UMLS:CN207070	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
RO:0002384	biolink:NamedThing	has developmental potential involving	x has developmental potential involving y iff x is capable of a developmental process with output y. y may be the successor of x, or may be a different structure in the vicinity (as for example in the case of developmental induction).		mondo.json		http://purl.obolibrary.org/obo/RO_0002384		
MONDO:0007297	biolink:Disease	ADan amyloidosis	A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.	ICD10EXP:E85.4+|OMIM:117300|Orphanet:97346|DOID:0070030|ICD10EXP:I68.0*|GARD:0009169|MESH:C538209|UMLS:C1861735	mondo.json	dementia, familial Danish|ITM2B-related cerebral amyloid angiopathy 2|cerebellar ataxia, cataract, deafness, and dementia or psychosis|HOOE|Heredopathia Ophthalmootoencephalica|cerebral amyloid angiopathy, ITM2B-RELATED, 2|cerebral amyloid angiopathy, ITM2B-related, type 2|cerebellar ataxia, cataract, deafness, and dementia Or psychosis|FDD|familial Danish dementia|familial dementia, Danish type	http://purl.obolibrary.org/obo/MONDO_0007297	DOID:0070030|http://identifiers.org/mesh/C538209|UMLS:C1861735|https://omim.org/entry/117300|Orphanet:97346	ordo_clinical_subtype
MONDO:0007294	biolink:Disease	central core myopathy	An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation.	UMLS:C0751951|Orphanet:597|GARD:0006014|EFO:1000855|Orphanet:178145|OMIM:117000|DOID:3529|SCTID:43152001|NCIT:C83010|MESH:D020512|Orphanet:598|UMLS:C1861753	mondo.json	multicore myopathy, moderate, with hand involvement|Cco|central core disease|minicore myopathy, moderate, with hand involvement|multiminicore disease, moderate, with hand involvement|muscle core disease|central CORE disease of muscle|CCD|neuromuscular disease, congenital, with uniform type 1 Fiber|myopathy, central fibrillar|Shy-Magee syndrome|muscular central core disease|myopathy, central core	http://purl.obolibrary.org/obo/MONDO_0007294	UMLS:C0751951|NCIT:C83010|http://identifiers.org/mesh/D020512|https://omim.org/entry/117000|http://identifiers.org/snomedct/43152001|Orphanet:597|DOID:3529	ordo_disease
NCIT:C83490	biolink:NamedThing	Microscopic Finding			mondo.json		http://purl.obolibrary.org/obo/NCIT_C83490		
MONDO:0007295	biolink:Disease	childhood epilepsy with centrotemporal spikes	A childhood-onset epilepsy syndrom that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit.	OMIM:245570|SCTID:44145005|NCIT:C116538|DOID:3329|Orphanet:1945|UMLS:C2363129|ICD9:345.80|UMLS:C0376532|UMLS:CN200685|GARD:0010287|OMIM:117100	mondo.json	centrotemporal epilepsy|benign Rolandic epilepsy|sylvan seizures|BECTS|BCECTS|benign Rolandic epilepsy of childhood (BREC)|BECRS|centralopathic epilepsy|benign epilepsy with centro-temporal spikes (BECTS)|Rolandic epilepsy|benign childhood epilepsy with centrotemporal spikes|benign epilepsy of childhood with centrotemporal spikes (BECCT)|centrotemporal epilepsy, isolated cases|benign childhood epilepsy with centrotemporal spike|benign epilepsy with centrotemporal spikes|temporal-central focal epilepsy|benign epilepsy of childhood with centrotemporal spikes|benign familial epilepsy of childhood with rolandic spikes|benign Rolandic epilepsy (BRE)|BRE	http://purl.obolibrary.org/obo/MONDO_0007295	http://identifiers.org/snomedct/44145005|UMLS:C0376532|UMLS:C2363129|https://omim.org/entry/117100|NCIT:C116538|Orphanet:1945|DOID:3329	gard_rare|ordo_disease
MONDO:0007292	biolink:Disease	obsolete celiac artery stenosis from compression by median arcuate ligament of diaphragm			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007292		
HGNC:30171	biolink:NamedThing	HSPB8			mondo.json		http://identifiers.org/hgnc/30171		
MONDO:0007293	biolink:Disease	leukocyte adhesion deficiency 1	Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections.	SCTID:234582006|GARD:0006893|NCIT:C4689|Orphanet:99842|OMIM:116920|UMLS:C0398738|MESH:C535887|DOID:0110910	mondo.json	lad-I|LFA1 immunodeficiency|lad-type I|Lad1|leukocyte adhesion deficiency type I|leukocyte adhesion deficiency type 1|lymphocyte function-associated antigen 1 immunodeficiency|ITGB2 leukocyte adhesion deficiency|leukocyte adhesion deficiency|Lfa1 immunodeficiency|LAD1|leukocyte adhesion deficiency, type I|leukocyte adhesion deficiency caused by mutation in ITGB2|lad 1|leukocyte adhesion deficiency, type 1|LFA 1 immunodeficiency|lad|LFA-I deficiency|leukocyte adhesion deficiency 1	http://purl.obolibrary.org/obo/MONDO_0007293	https://omim.org/entry/116920|http://identifiers.org/mesh/C535887|DOID:0110910|NCIT:C4689|Orphanet:99842|UMLS:C0398738|http://identifiers.org/snomedct/234582006	ordo_clinical_subtype
HGNC:30172	biolink:NamedThing	STRADA			mondo.json		http://identifiers.org/hgnc/30172		
MONDO:0007290	biolink:Disease	cataract 5 multiple types	Any cataract (disease) in which the cause of the disease is a mutation in the HSF4 gene.	MESH:C535342|DOID:0110255|OMIM:116800|Orphanet:98995	mondo.json	cataract 5, multiple types|HSF4 cataract (disease)|CTRCT5|cataract (disease) caused by mutation in HSF4|cataract, Marner type|cataract, lamellar	http://purl.obolibrary.org/obo/MONDO_0007290	http://identifiers.org/mesh/C535342|DOID:0110255|https://omim.org/entry/116800	
MONDO:0007291	biolink:Disease	obsolete familial cerebral cavernous malformation			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007291		
RO:0002379	biolink:NamedThing	spatially coextensive with	x spatially_coextensive_with y if and inly if x and y have the same location		mondo.json		http://purl.obolibrary.org/obo/RO_0002379		
MONDO:0020249	biolink:Disease	hereditary optic neuropathy		Orphanet:98671|MedDRA:10061323	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020249	Orphanet:98671	ordo_group_of_disorders|disease_grouping
MONDO:0020248	biolink:Disease	vitreoretinal degeneration		UMLS:C0344290|Orphanet:98670|ICD10CM:H35.5|GARD:0005506|HP:0007964|SCTID:247182006	mondo.json	degenerative vitreoretinopathy	http://purl.obolibrary.org/obo/MONDO_0020248	UMLS:C0344290|http://identifiers.org/snomedct/247182006	gard_rare|ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0019269	biolink:Disease	ichthyosis	Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies.	DOID:1697|MESH:D007057|HP:0008064|MedDRA:10021198|Orphanet:79354|NCIT:C84776|UMLS:C0020757	mondo.json	fish scale disease|ichthyosis|non-syndromic ichthyosis|ichthyosis (disease)|DOC|disorder of cornification|ichthyoses|fish skin disease	http://purl.obolibrary.org/obo/MONDO_0019269	http://identifiers.org/mesh/D007057|Orphanet:79354|DOID:1697|NCIT:C84776|UMLS:C0020757	ordo_group_of_disorders|disease_grouping
GO:0030343	biolink:NamedThing	vitamin D3 25-hydroxylase activity	Catalysis of the reaction: vitamin D3 + NADPH + H+ + O2 = calcidiol + NADP+ + H2O.		mondo.json	cholecalciferol 25-hydroxylase activity	http://purl.obolibrary.org/obo/GO_0030343		
MONDO:0019268	biolink:Disease	epidermal disease	A skin disease that involves the epidermis.	UMLS:CN205920|Orphanet:79353	mondo.json	rare epidermal disease|epidermal disease	http://purl.obolibrary.org/obo/MONDO_0019268	Orphanet:79353|UMLS:CN205920	ordo_group_of_disorders|disease_grouping
MONDO:0019265	biolink:Disease	diazoxide-resistant focal hyperinsulinism	Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion.	Orphanet:79298	mondo.json	hyperinsulinemic hypoglycemia, diazoxide-resistant focal form	http://purl.obolibrary.org/obo/MONDO_0019265	Orphanet:79298	ordo_group_of_disorders|disease_grouping
MONDO:0019264	biolink:Disease	alpha-N-acetylgalactosaminidase deficiency type 3	Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.	UMLS:C1836545|OMIM:609241|Orphanet:79281	mondo.json	NAGA deficiency type 3|Schindler disease type 3	http://purl.obolibrary.org/obo/MONDO_0019264	Orphanet:79281|UMLS:C1836545	ordo_clinical_subtype
MONDO:0019267	biolink:Disease	vitamin B12-unresponsive methylmalonic acidemia type mut-	Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.	SCTID:237946002|UMLS:CN205894|Orphanet:79312	mondo.json	partial deficiency of methylmalonyl-CoA mutase|vitamin B12-unresponsive methylmalonic aciduria type mut-	http://purl.obolibrary.org/obo/MONDO_0019267	http://identifiers.org/snomedct/237946002|Orphanet:79312|UMLS:CN205894	ordo_clinical_subtype
MONDO:0019266	biolink:Disease	SAPHO syndrome	SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis.	MedDRA:10051316|EFO:1001164|DOID:13677|ICD9:706.1|SCTID:60684003|Orphanet:793|NCIT:C119049|UMLS:C0263859|MESH:D020083|GARD:0007606	mondo.json	PPHS|Pustulo-psoriatic hyperostotic Spondyloarthritis|synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome|synovitis-acne-pustulosis-hyperostosis-osteitis syndrome|synovitis, acne, Pustlosis, hyperostosis, and osteomyelitis|synovitis acne pustulosis hyperostosis osteitis|acquired hyperostosis syndrome|synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome	http://purl.obolibrary.org/obo/MONDO_0019266	Orphanet:793|DOID:13677|UMLS:C0263859|http://identifiers.org/mesh/D020083|NCIT:C119049|http://identifiers.org/snomedct/60684003	gard_rare|ordo_disease
CHEBI:149689	biolink:ChemicalSubstance	D-dopa zwitterion	An amino acid zwitterion obtained from the transfer of a proton from the carboxy group to the amino group of D-dopa. Major microspecies at pH 7.3.		mondo.json	(2R)-2-ammonio-3-(3,4-dihydroxyphenyl)propanoate|(2R)-2-azaniumyl-3-(3,4-dihydroxyphenyl)propanoate|D-dopa	http://purl.obolibrary.org/obo/CHEBI_149689		
HGNC:17185	biolink:NamedThing	ASB10			mondo.json		http://identifiers.org/hgnc/17185		
GO:0030336	biolink:NamedThing	negative regulation of cell migration	Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration.		mondo.json	downregulation of cell migration|down regulation of cell migration|inhibition of cell migration|down-regulation of cell migration	http://purl.obolibrary.org/obo/GO_0030336		
GO:0030334	biolink:NamedThing	regulation of cell migration	Any process that modulates the frequency, rate or extent of cell migration.		mondo.json		http://purl.obolibrary.org/obo/GO_0030334		
GO:0032997	biolink:NamedThing	Fc receptor complex	A protein complex composed of a subunit or subunits capable of binding the Fc portion of an immunoglobulin with additional signaling components. The complex functions as a receptor for immunoglobulin.		mondo.json	immunoglobulin receptor complex|Fc-receptor complex|FcR complex	http://purl.obolibrary.org/obo/GO_0032997		
GO:0030335	biolink:NamedThing	positive regulation of cell migration	Any process that activates or increases the frequency, rate or extent of cell migration.		mondo.json	activation of cell migration|upregulation of cell migration|up regulation of cell migration|stimulation of cell migration|up-regulation of cell migration	http://purl.obolibrary.org/obo/GO_0030335		
RO:0002374	biolink:NamedThing	derived from ancestral fusion of	x has_fused_element y iff: there exists some z : x has_part z, z homologous_to y, and y is a distinct element, the boundary between x and z is largely fiat		mondo.json	has fused element	http://purl.obolibrary.org/obo/RO_0002374		
MONDO:0044214	biolink:Disease	obsolete androstenone, ability to smell		OMIM:105570	mondo.json	ANDROSTENONE, ability to smell	http://purl.obolibrary.org/obo/MONDO_0044214	https://omim.org/entry/105570	
MONDO:0044213	biolink:Disease	acute idiopathic urticaria	Acute form of idiopathic urticaria.	UMLS:C0578869|SCTID:302161006	mondo.json	idiopathic urticaria, acute|acute idiopathic urticaria	http://purl.obolibrary.org/obo/MONDO_0044213	UMLS:C0578869|http://identifiers.org/snomedct/302161006	
RO:0002375	biolink:NamedThing	in branching relationship with	A relationship that holds between two material entities in a system of connected structures, where the branching relationship holds based on properties of the connecting network.		mondo.json		http://purl.obolibrary.org/obo/RO_0002375		
MONDO:0044216	biolink:Disease	obsolete artichoke, modification of taste by		OMIM:108320	mondo.json	artichoke, modification of taste by	http://purl.obolibrary.org/obo/MONDO_0044216	https://omim.org/entry/108320	
RO:0002376	biolink:NamedThing	tributary of	x tributary_of y if and only if x a channel for the flow of a substance into y, where y is larger than x. If x and y are hydrographic features, then y is the main stem of a river, or a lake or bay, but not the sea or ocean. If x and y are anatomical, then y is a vein.		mondo.json		http://purl.obolibrary.org/obo/RO_0002376		
MONDO:0044215	biolink:Disease	obsolete arm folding preference		OMIM:107850	mondo.json	ARM folding preference	http://purl.obolibrary.org/obo/MONDO_0044215	https://omim.org/entry/107850	
MONDO:0044210	biolink:Disease	thalassemia minor	The inheritance of only one mutated beta-globin allele (beta+ or beta0).	SCTID:19442009|MedDRA:10054662|SCDO:0000114|ICD10CM:D56.3	mondo.json	beta thalassemia trait	http://purl.obolibrary.org/obo/MONDO_0044210	http://identifiers.org/snomedct/19442009|http://identifiers.org/meddra/10054662|http://purl.bioontology.org/ontology/ICD10CM/D56.3	
PATO:0002507	biolink:NamedThing	keratinous	A composition quality inhering in a bearer by virtue of the bearer's consisting of keratin.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002507		
RO:0002371	biolink:NamedThing	attached to	a is attached to b if and only if a and b are discrete objects or object parts, and there are physical connections between a and b such that a force pulling a will move b, or a force pulling b will move a		mondo.json		http://purl.obolibrary.org/obo/RO_0002371		
MONDO:0044212	biolink:Disease	chronic idiopathic urticaria	Chronic form of idiopathic urticaria.	SCTID:302162004|UMLS:C0578870	mondo.json	idiopathic urticaria, chronic|chronic idiopathic urticaria	http://purl.obolibrary.org/obo/MONDO_0044212	http://identifiers.org/snomedct/302162004|UMLS:C0578870	
RO:0002372	biolink:NamedThing	has muscle origin	m has_muscle_origin s iff m is attached_to s, and it is the case that when m contracts, s does not move. The site of the origin tends to be more proximal and have greater mass than what the other end attaches to.		mondo.json		http://purl.obolibrary.org/obo/RO_0002372		
HGNC:29168	biolink:NamedThing	RPGRIP1L			mondo.json		http://identifiers.org/hgnc/29168		
MONDO:0044211	biolink:Disease	idiopathic urticaria		SCTID:42265009|ICD9:708.1|UMLS:C0157741|ICD10CM:L50.1	mondo.json	idiopathic angioedema-urticaria	http://purl.obolibrary.org/obo/MONDO_0044211	UMLS:C0157741|http://identifiers.org/snomedct/42265009|http://purl.bioontology.org/ontology/ICD10CM/L50.1	
PATO:0002505	biolink:NamedThing	nucleated	A nucleate quality inhering in a bearer by virtue of the bearer's having one or more nucleus.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002505		
RO:0002373	biolink:NamedThing	has muscle insertion	m has_muscle_insertion s iff m is attaches_to s, and it is the case that when m contracts, s moves. Insertions are usually connections of muscle via tendon to bone.		mondo.json		http://purl.obolibrary.org/obo/RO_0002373		
MONDO:0044207	biolink:Disease	specific granule deficiency 1	Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene.	OMIM:245480	mondo.json	specific granule deficiency|specific granule deficiency caused by mutation in CEBPE|neutrophil lactoferrin deficiency|SGD1|specific granule deficiency 1|CEBPE specific granule deficiency|lactoferrin-deficient neutrophils	http://purl.obolibrary.org/obo/MONDO_0044207	https://omim.org/entry/245480	
NCBITaxon:1437183	biolink:OrganismalEntity	Mesangiospermae		GC_ID:1|PMID:25249442	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1437183		
MONDO:0044206	biolink:Disease	otospondylomegaepiphyseal dysplasia, autosomal recessive		OMIM:215150	mondo.json	Nance-Insley syndrome|OSMEDB|otospondylomegaepiphyseal dysplasia, autosomal recessive|OSMED|chondrodystrophy with sensorineural deafness|Nance-Sweeney chondrodysplasia|Weissenbacher-Zweymuller syndrome, formerly|Weissenbacher-Zweymuller syndrome	http://purl.obolibrary.org/obo/MONDO_0044206	https://omim.org/entry/215150	
MONDO:0044209	biolink:Disease	disorder of lectin complement activation pathway	A disease that has its basis in the disruption of complement activation, lectin pathway.	OMIMPS:614372	mondo.json	complement activation, lectin pathway disease|disorder of complement activation, lectin pathway	http://purl.obolibrary.org/obo/MONDO_0044209	https://omim.org/phenotypicSeries/PS614372	
HGNC:29160	biolink:NamedThing	FASTKD2			mondo.json		http://identifiers.org/hgnc/29160		
MONDO:0044208	biolink:Disease	specific granule deficiency 2	Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480).	UMLS:C4479548|OMIM:617475	mondo.json	specific granule deficiency 2|SGD2	http://purl.obolibrary.org/obo/MONDO_0044208	https://omim.org/entry/617475|UMLS:C4479548	
MONDO:0034895	biolink:Disease	congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome	A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period.	Orphanet:514352	mondo.json	serpentine-like syndrome	http://purl.obolibrary.org/obo/MONDO_0034895	Orphanet:514352	ordo_disorder
GO:0032991	biolink:NamedThing	protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.		mondo.json	protein-protein complex|protein containing complex|protein complex|macromolecular complex|macromolecule complex	http://purl.obolibrary.org/obo/GO_0032991		
GO:0032990	biolink:NamedThing	cell part morphogenesis	The process in which the anatomical structures of a cell part are generated and organized.		mondo.json		http://purl.obolibrary.org/obo/GO_0032990		
HGNC:17194	biolink:NamedThing	NDUFA13			mondo.json		http://identifiers.org/hgnc/17194		
GO:0032989	biolink:NamedThing	cellular component morphogenesis	The process in which cellular structures, including whole cells or cell parts, are generated and organized.		mondo.json	cellular structure morphogenesis	http://purl.obolibrary.org/obo/GO_0032989		
GO:0032987	biolink:NamedThing	protein-lipid complex disassembly	The disaggregation of a protein-lipid complex into its constituent components.		mondo.json		http://purl.obolibrary.org/obo/GO_0032987		
HGNC:17192	biolink:NamedThing	TIRAP			mondo.json		http://identifiers.org/hgnc/17192		
MONDO:0044225	biolink:Disease	obsolete creatine kinase, brain type, ectopic expression of		HGNC:1992	mondo.json	creatine KINASE, brain type, ectopic expression OF|CKBE	http://purl.obolibrary.org/obo/MONDO_0044225		
MONDO:0044224	biolink:Disease	obsolete apocrine gland secretion, variation 1n		OMIM:117800	mondo.json	colostrum secretion, variation in|axillary odor, variation in|wet wax|earwax, wet/dry|apocrine gland secretion, variation IN|axillary odor, variation 1N|colostrum secretion, variation 1N|cerumen, variation 1N|Ear wax, wet/dry	http://purl.obolibrary.org/obo/MONDO_0044224	https://omim.org/entry/117800	
MONDO:0044227	biolink:Disease	obsolete dimples, facial		OMIM:126100	mondo.json	dimples, FACIAL|cheek dimples|smiling dimples	http://purl.obolibrary.org/obo/MONDO_0044227	https://omim.org/entry/126100	
MONDO:0044226	biolink:Disease	obsolete defective interfering particle induction, control of		HGNC:12678	mondo.json	Dipi, control of|vesicular stomatitis Virus defective interfering particle repressor|homologous viral interference|defective interfering particle induction, control OF	http://purl.obolibrary.org/obo/MONDO_0044226		
MONDO:0044221	biolink:Disease	obsolete blood group--lutheran inhibitor		OMIM:111150	mondo.json	INLU|blood group--Lutheran INHIBITOR|dominant 50U (A-B-) phenotype	http://purl.obolibrary.org/obo/MONDO_0044221	https://omim.org/entry/111150	
MONDO:0044220	biolink:Disease	obsolete blood group, 1 system		OMIM:110800	mondo.json	adult I phenotype|blood group, Ii|II|II blood Group system|blood group, I system|I blood Group system	http://purl.obolibrary.org/obo/MONDO_0044220	https://omim.org/entry/110800	
NCBITaxon:766764	biolink:OrganismalEntity	Debaryomycetaceae		GC_ID:12	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_766764		
GO:0005381	biolink:NamedThing	iron ion transmembrane transporter activity	Enables the transfer of iron (Fe) ions from one side of a membrane to the other.		mondo.json	iron channel activity|iron cation channel activity|iron transporter activity|transmembrane iron permease activity|zinc, iron permease activity|multicopper ferroxidase iron transport mediator activity|transmembrane iron ion permease activity	http://purl.obolibrary.org/obo/GO_0005381		
MONDO:0044223	biolink:Disease	obsolete radin blood group antigen		OMIM:111620	mondo.json	RADIN blood group antigen|blood Group--Radin antigen|RD|blood group, Radin	http://purl.obolibrary.org/obo/MONDO_0044223	https://omim.org/entry/111620	
MONDO:0044222	biolink:Disease	obsolete blood group, p1pk system		OMIM:111400	mondo.json	P(1) phenotype|P phenotype|P(2) phenotype|Nor Polyagglutination syndrome|blood group, P1PK system|blood group, P1Pk system, P(2) phenotype|blood group, P1Pk system, p phenotype|P1(K) phenotype|P2(K) phenotype|blood group, P1PK system, P(k) phenotype	http://purl.obolibrary.org/obo/MONDO_0044222	https://omim.org/entry/111400	
HGNC:29174	biolink:NamedThing	WASHC4			mondo.json		http://identifiers.org/hgnc/29174		
MONDO:0044218	biolink:Disease	obsolete beeturia		OMIM:109600	mondo.json	Betacyaninuria|BEETURIA	http://purl.obolibrary.org/obo/MONDO_0044218	https://omim.org/entry/109600	
HP:0002503	biolink:PhenotypicFeature	Spinocerebellar tract degeneration		UMLS:C1866751	mondo.json	Degeneration of the spinocerebellar tracts|Spinocerebellar degeneration	http://purl.obolibrary.org/obo/HP_0002503		
MONDO:0044217	biolink:Disease	obsolete asparagus, specific smell hypersensitivity		OMIM:108390	mondo.json	asparagus, specific smell hypersensitivity	http://purl.obolibrary.org/obo/MONDO_0044217	https://omim.org/entry/108390	
HGNC:29170	biolink:NamedThing	FAN1			mondo.json		http://identifiers.org/hgnc/29170		
HP:0002500	biolink:PhenotypicFeature	Abnormal cerebral white matter morphology	An abnormality of the cerebral white matter.	UMLS:C0948163|UMLS:C4020851|MSH:D049292	mondo.json	Cortical white matter abnormalities seen on MRI|Cerebral white matter abnormalities|White matter abnormalities|White matter alterations|Abnormality of the cerebral white matter|Abnormality of subcortical white matter|Leukoaraiosis	http://purl.obolibrary.org/obo/HP_0002500		
MONDO:0044219	biolink:Disease	obsolete blood group, duffy system	OBSOLETE. The Duffy blood group system, which consists of 4 alleles, 5 phenotypes, and 5 antigens, is important in clinical medicine because of transfusion incompatibilities and hemolytic disease of the newborn. Duffy antigens are located on ACKR1 (OMIM:613665), or DARC, an acidic glycoprotein found on erythrocytes and other cells throughout the body. The 2 principal antigens, Fy(a) and Fy(b), are produced by the FYA and FYB codominant alleles (see {613665.0001}). Four phenotypes are defined by the corresponding antibodies, anti-Fy(a) and anti-Fy(b): Fy(a+b-), Fy(a-b+), Fy(a+b+), and Fy(a-b-). Fy(a-b-), or Duffy null, is the major phenotype in African and American blacks and is characterized by the presence of Fy(b) on nonerythroid cells, but an absence of Fy(b) on erythrocytes. The Fy(a-b-) phenotype is associated with complete resistance to infection by the malarial parasite Plasmodium vivax (see OMIM:611162). Individuals with the Fy(a-b-) phenotype have the FYB-erythroid silent (FYB-ES) allele with a mutation in the DARC promoter ({613665.0002}). A fifth phenotype, Fy(bwk), or Fy(x), is characterized by weak Fy(b) expression on erythrocytes due to a reduced amount of protein. Individuals with the Fy(bwk) phenotype have the FYB-weak (FYB-WK) allele, also called the FYX allele, with a missense mutation in DARC ({613665.0003}). Other Duffy antigens include Fy3, Fy4, Fy5, and Fy6 (reviews by {21:Pogo and Chaudhuri (2000)}, {10:Langhi and Bordin (2006)}, and {14:Meny (2010)}).	OMIM:110700	mondo.json	Duffy blood Group system|blood group, Duffy system|FY|Plasmodium vivax, resistance to|blood group, DUFFY system	http://purl.obolibrary.org/obo/MONDO_0044219	https://omim.org/entry/110700	
NCBITaxon:1437197	biolink:OrganismalEntity	Petrosaviidae		GC_ID:1|PMID:26350789	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1437197		
GO:0032984	biolink:NamedThing	protein-containing complex disassembly	The disaggregation of a protein-containing macromolecular complex into its constituent components.		mondo.json	macromolecule complex disassembly|cellular protein complex disassembly|cellular macromolecule complex disassembly|protein complex disassembly	http://purl.obolibrary.org/obo/GO_0032984		
HGNC:17198	biolink:NamedThing	CHSY1			mondo.json		http://identifiers.org/hgnc/17198		
GO:0030316	biolink:NamedThing	osteoclast differentiation	The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue.		mondo.json	osteoclast cell differentiation	http://purl.obolibrary.org/obo/GO_0030316		
MONDO:0044230	biolink:Disease	obsolete epiblepharon of upper 51d		OMIM:131460	mondo.json	epiblepharon of upper lid	http://purl.obolibrary.org/obo/MONDO_0044230	https://omim.org/entry/131460	
GO:0030317	biolink:NamedThing	flagellated sperm motility	The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm.		mondo.json	sperm flagellum movement involved in flagellated sperm movement|sperm flagellum movement involved in flagellated sperm motility|flagellated sperm movement|sperm movement|sperm flagellum movement|sperm motility	http://purl.obolibrary.org/obo/GO_0030317		
GO:0030312	biolink:NamedThing	external encapsulating structure	A structure that lies outside the plasma membrane and surrounds the entire cell or cells. This does not include the periplasmic space.		mondo.json		http://purl.obolibrary.org/obo/GO_0030312		
MONDO:0044236	biolink:Disease	obsolete hepatitis b vaccine, response to	OBSOLETE. More than 2 billion people have been infected with the hepatitis B virus (HBV; see OMIM:610424), and more than 350 million of these people are chronic carriers. Each year more than half a million die as a result of acute or chronic HBV infection. Vaccination has been highly successful at preventing new HBV infections and has been implemented into the national immunization programs of more than 150 countries. However, the immune response to HBV vaccination varies greatly among individuals, with 5 to 10% of healthy adults failing to produce protective levels of antibodies. Several factors have been implicated in determining the response to HBV vaccination, including physical factors, such as age, gender, obesity, immunosuppression, and smoking, as well as variation in genes of the immune system (summary by {2:Davila et al., 2010}).	OMIM:142395	mondo.json	HBV vaccine, response to|HEPATITIS B vaccine, response to	http://purl.obolibrary.org/obo/MONDO_0044236	https://omim.org/entry/142395	
RO:0002352	biolink:NamedThing	input of	inverse of has input		mondo.json		http://purl.obolibrary.org/obo/RO_0002352		
MONDO:0044235	biolink:Disease	obsolete hsr		OMIM:139900	mondo.json	handedness|Handedness|HSR|hand skill, relative	http://purl.obolibrary.org/obo/MONDO_0044235	https://omim.org/entry/139900	
RO:0002353	biolink:NamedThing	output of	inverse of has output		mondo.json		http://purl.obolibrary.org/obo/RO_0002353		
GO:0005355	biolink:NamedThing	glucose transmembrane transporter activity	Enables the transfer of the hexose monosaccharide glucose from one side of a membrane to the other.		mondo.json	galactose/glucose (methylgalactoside) porter activity|glucose permease activity|lactose/glucose efflux transporter activity	http://purl.obolibrary.org/obo/GO_0005355		
MONDO:0044238	biolink:Disease	obsolete lunulae of fingernails		OMIM:152600	mondo.json	lunulae of fingernails	http://purl.obolibrary.org/obo/MONDO_0044238	https://omim.org/entry/152600	
RO:0002354	biolink:NamedThing	formed as result of			mondo.json		http://purl.obolibrary.org/obo/RO_0002354		
MONDO:0044237	biolink:Disease	obsolete hypercholesterolemia suppressor		OMIM:144020	mondo.json	hypercholesterolemia suppressor	http://purl.obolibrary.org/obo/MONDO_0044237	https://omim.org/entry/144020	
HGNC:29144	biolink:NamedThing	EHBP1			mondo.json		http://identifiers.org/hgnc/29144		
MONDO:0044232	biolink:Disease	obsolete fingers, relative length of		OMIM:136100	mondo.json	2D:4D finger-length ratio|fingers, relative length OF	http://purl.obolibrary.org/obo/MONDO_0044232	https://omim.org/entry/136100	
MONDO:0044231	biolink:Disease	obsolete eyebrow, whorl 1n		OMIM:133800	mondo.json	eyebrow, whorl in	http://purl.obolibrary.org/obo/MONDO_0044231	https://omim.org/entry/133800	
MONDO:0044234	biolink:Disease	obsolete hrm2		OMIM:139450	mondo.json	hair morphology 2|HRM2|curly hair|hair, curly|hair curvature, variation 1N	http://purl.obolibrary.org/obo/MONDO_0044234	https://omim.org/entry/139450	
RO:0002350	biolink:NamedThing	member of	is member of is a mereological relation between a item and a collection.		mondo.json		http://purl.obolibrary.org/obo/RO_0002350		
MONDO:0044233	biolink:Disease	obsolete hair whorl		OMIM:139400	mondo.json	Cowlick|hair whorl|Double hair whorl	http://purl.obolibrary.org/obo/MONDO_0044233	https://omim.org/entry/139400	
RO:0002351	biolink:NamedThing	has member	has member is a mereological relation between a collection and an item.		mondo.json		http://purl.obolibrary.org/obo/RO_0002351		
MONDO:0044229	biolink:Disease	obsolete epiblepharon of lower 51d		OMIM:131450	mondo.json	epiblepharon of lower lid	http://purl.obolibrary.org/obo/MONDO_0044229	https://omim.org/entry/131450	
MONDO:0044228	biolink:Disease	obsolete eegbqtl	OBSOLETE. Since the initial discovery of the human electroencephalogram (EEG) by {1:Berger (1929)}, it has been speculated that neural oscillations play a broad role in nervous systems and form the basis for higher cognitive functions and consciousness. The presence of a beta/gamma oscillation (18 to 50 Hz) is thought to represent an activated state of the underlying neuronal network. These beta (12-29 Hz) and gamma (30-50 Hz) brain rhythms involve gamma-aminobutyric acid type A (GABA-A) receptor action ({2:Haenschel et al., 2000}; summary by {3:Porjesz et al., 2002}).	OMIM:130190	mondo.json	EEGBQTL|ELECTROENCEPHALOGRAPHIC pattern, BETA frequency, quantitative trait locus	http://purl.obolibrary.org/obo/MONDO_0044228	https://omim.org/entry/130190	
HGNC:17168	biolink:NamedThing	RAB3GAP2			mondo.json		http://identifiers.org/hgnc/17168		
MONDO:0020294	biolink:Disease	atrial defect and interatrial communication		Orphanet:98727	mondo.json	atrial defect and interauricular communication|rare atrial defect and interatrial communication	http://purl.obolibrary.org/obo/MONDO_0020294	Orphanet:98727	disease_grouping|ordo_group_of_disorders
MONDO:0020293	biolink:Disease	ascending aorta anomaly		Orphanet:98725	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020293	Orphanet:98725	disease_grouping|ordo_group_of_disorders
MONDO:0020292	biolink:Disease	congenital anomaly of the great arteries		Orphanet:98724|MedDRA:10061080	mondo.json	congenital aorta, aortic arch or pulmonary arteries anomaly	http://purl.obolibrary.org/obo/MONDO_0020292	Orphanet:98724	disease_grouping|ordo_group_of_disorders
MONDO:0044241	biolink:Disease	obsolete mydriatic response to pharmacologic agents		OMIM:159410	mondo.json	mydriatic response to pharmacologic agents	http://purl.obolibrary.org/obo/MONDO_0044241	https://omim.org/entry/159410	
HGNC:17175	biolink:NamedThing	PLCE1			mondo.json		http://identifiers.org/hgnc/17175		
MONDO:0020291	biolink:Disease	hypoplastic right heart syndrome	Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia.	SCTID:268180007|MedDRA:10050053|Orphanet:98723|NCIT:C99053|UMLS:C0344963|ICD10CM:Q22.6|ICD9:746.89|MedDRA:10064962|DOID:0070315|GARD:0002922	mondo.json	right hypoplastic heart syndrome	http://purl.obolibrary.org/obo/MONDO_0020291	UMLS:C0344963|Orphanet:98723|NCIT:C99053|http://purl.bioontology.org/ontology/ICD10CM/Q22.6|DOID:0070315|http://identifiers.org/snomedct/268180007	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0044240	biolink:Disease	obsolete musical perfect pitch	OBSOLETE. Perfect pitch, or absolute pitch (AP), is defined as the ability immediately and effortlessly to name a note or collection of notes when they are sounded. Often, persons with perfect pitch possess a memory capacity whereby they can remember the pitch of a note and the configuration of a group or series of notes after a significant interval of time has elapsed. These recognitive and memory talents involve a potential capacity for performing these functions together with a practice factor which is necessary for the maintenance of the skills at the highest level (summary by {12:Profita and Bidder, 1988}). Absolute pitch likely results from a combination of environmental and genetic factors ({16:Theusch et al., 2009}).	OMIM:159300	mondo.json	musical perfect pitch|absolute pitch	http://purl.obolibrary.org/obo/MONDO_0044240	https://omim.org/entry/159300	
MONDO:0020290	biolink:Disease	atrioventricular septal defect	A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves.	DOID:0050651|OMIMPS:606215|SCTID:15459006|ICD9:745.69|NCIT:C101029|GARD:0000802|ICD9:745.6|Orphanet:98722|ICD9:745.60	mondo.json	AVSD|endocardial cushion defect|common atrioventricular canal|atrioventricular canal defect|AV septal defect|common AV canal|atrioventricular septal defect|AVCD|ECD	http://purl.obolibrary.org/obo/MONDO_0020290	Orphanet:98722|DOID:0050651|NCIT:C101029|http://identifiers.org/snomedct/15459006|https://omim.org/phenotypicSeries/PS606215	gard_rare|ordo_group_of_disorders|disease_grouping
MONDO:0044247	biolink:Disease	obsolete palmomental reflex		OMIM:167700	mondo.json	PALMOMENTAL reflex	http://purl.obolibrary.org/obo/MONDO_0044247	https://omim.org/entry/167700	
MONDO:0044246	biolink:Disease	obsolete nystagmus, voluntary	OBSOLETE. Voluntary nystagmus is a rapid to-and-fro synchronous movement of the eyes that is initiated and maintained by conscious effort. Voluntary nystagmus has a frequency of 10-25 Hz, with an amplitude of up to 6 degrees, and can be maintained for up to 35 seconds. It usually has its first appearance between ages 8 to 15 years. It can be produced in both light and darkness, without fixation, at all eye positions, and even with closed eyes. It is accompanied by oscillopsia with visual blurring (summary by {1:Aschoff et al., 1976}).	OMIM:164170	mondo.json	NYSTAGMUS, voluntary	http://purl.obolibrary.org/obo/MONDO_0044246	https://omim.org/entry/164170	
MONDO:0044249	biolink:Disease	obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1		OMIM:171720	mondo.json	Alpqtl1|alkaline phosphatase, elevated serum|alkaline phosphatase, plasma level of, QTL1|alkaline phosphatase, plasma level OF, quantitative trait locus 1|hyperphosphatasemia, benign familial	http://purl.obolibrary.org/obo/MONDO_0044249	https://omim.org/entry/171720	
MONDO:0020299	biolink:Disease	obsolete spinocerebellar ataxia type 15/16			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020299		
MONDO:0044248	biolink:Disease	obsolete thiourea tasting	OBSOLETE. The sense of bitter taste is mediated by a group of bitter taste receptor proteins that reside on the surface of taste cells within the taste buds of the tongue. These proteins are 7-transmembrane domain, G protein-coupled receptors that are encoded by the TAS2R gene family (see TAS2R10; OMIM:604791), which contains at least 25 functional genes ({22:Kim et al., 2005}).nnHumans worldwide display a bimodality in sensitivity to the bitter taste of PTC, with approximately 75% of individuals perceiving it as intensely bitter, whereas the rest perceive it as tasteless. This difference has been the basis of study of taste perception in humans for over 70 years. {21:Kim and Drayna (2004)} provided an historical review of the subject.nnPropylthiouracil (PROP) and PTC are members of a class of compounds known as thioureas. The compounds carry the chemical group N-C=S, which is responsible for their characteristic bitter taste ({3:Bartoshuk et al., 1994}; {10:Drewnowski and Rock, 1995}).	OMIM:171200	mondo.json	thiourea tasting|prop tasting|Propylthiouracil tasting|Phenylthiocarbamide tasting|ptc tasting|THIOT|phenylthiocarbamide tasting	http://purl.obolibrary.org/obo/MONDO_0044248	https://omim.org/entry/171200	
MONDO:0020298	biolink:Disease	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		UMLS:CN207093|Orphanet:98754	mondo.json	Prader-Willi syndrome due to maternal uniparental disomy of chromosome type 15|UPD(15)mat	http://purl.obolibrary.org/obo/MONDO_0020298	Orphanet:98754|UMLS:CN207093	ordo_etiological_subtype
MONDO:0044243	biolink:Disease	obsolete nail high-sulfur protein		OMIM:161070	mondo.json	nail high-sulfur PROTEIN	http://purl.obolibrary.org/obo/MONDO_0044243	https://omim.org/entry/161070	
MONDO:0020297	biolink:Disease	Noonan syndrome and Noonan-related syndrome		MESH:C537846|Orphanet:98733|UMLS:CN166718	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020297	UMLS:CN166718|Orphanet:98733|http://identifiers.org/mesh/C537846	ordo_group_of_disorders|disease_grouping
MONDO:0044242	biolink:Disease	obsolete mydriasis, congenital		OMIM:159420	mondo.json	mydriasis, congenital	http://purl.obolibrary.org/obo/MONDO_0044242	https://omim.org/entry/159420	
MONDO:0020296	biolink:Disease	congenital arteriovenous fistula	An abnormal, epithelial-lined connection between an artery and vein that is present at the time of birth.	NCIT:C35377|MedDRA:10003226|MESH:D001164|Orphanet:98731|SCTID:234148007	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020296	NCIT:C35377|http://identifiers.org/mesh/D001164|Orphanet:98731|http://identifiers.org/snomedct/234148007	ordo_group_of_disorders|disease_grouping
MONDO:0044245	biolink:Disease	obsolete nailbeds, pigmentation of		OMIM:161100	mondo.json	NAILBEDS, pigmentation OF	http://purl.obolibrary.org/obo/MONDO_0044245	https://omim.org/entry/161100	
MONDO:0020295	biolink:Disease	congenital pulmonary veins anomaly	Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium.	SCTID:111322000|NCIT:C110942|Orphanet:98729	mondo.json	congenital anomaly of pulmonary veins|pulmonary vein abnormality	http://purl.obolibrary.org/obo/MONDO_0020295	NCIT:C110942|Orphanet:98729|http://identifiers.org/snomedct/111322000	disease_grouping|ordo_group_of_disorders
MONDO:0044244	biolink:Disease	obsolete nail low-sulfur protein		OMIM:161080	mondo.json	nail LOW-sulfur PROTEIN	http://purl.obolibrary.org/obo/MONDO_0044244	https://omim.org/entry/161080	
RO:0002334	biolink:NamedThing	regulated by	inverse of regulates		mondo.json		http://purl.obolibrary.org/obo/RO_0002334		
RO:0002335	biolink:NamedThing	negatively regulated by	inverse of negatively regulates		mondo.json		http://purl.obolibrary.org/obo/RO_0002335		
MONDO:0044239	biolink:Disease	obsolete median-ulnar nerve communications		OMIM:155150	mondo.json	Martin-Gruber Median-ulnar anastomosis|median-ulnar nerve communications	http://purl.obolibrary.org/obo/MONDO_0044239	https://omim.org/entry/155150	
RO:0002336	biolink:NamedThing	positively regulated by	inverse of positively regulates		mondo.json		http://purl.obolibrary.org/obo/RO_0002336		
HP:0100765	biolink:PhenotypicFeature	Abnormality of the tonsils	An abnormality of the tonsils.	UMLS:C4021975	mondo.json		http://purl.obolibrary.org/obo/HP_0100765		
HP:0100763	biolink:PhenotypicFeature	Abnormality of the lymphatic system	An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.	UMLS:C4021976|SNOMEDCT_US:234087005|SNOMEDCT_US:111590001|UMLS:C0024228|MSH:D008206|SNOMEDCT_US:3305006|SNOMEDCT_US:362971004	mondo.json	Lymphatic disease	http://purl.obolibrary.org/obo/HP_0100763		
HGNC:17142	biolink:NamedThing	OPTN			mondo.json		http://identifiers.org/hgnc/17142		
MONDO:0022862	biolink:Disease	cormier rustin munnich syndrome		GARD:0001523	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022862		gard_rare
MONDO:0007229	biolink:Disease	Brachymetatarsus 4		OMIM:113475	mondo.json	Brachymetatarsus type 4|toe, fourth, short|metatarsus IV, short|BRACHYMETATARSUS IV	http://purl.obolibrary.org/obo/MONDO_0007229	https://omim.org/entry/113475	
MONDO:0022863	biolink:Disease	corneal crystals myopathy neuropathy		GARD:0001526	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022863		gard_rare
MONDO:0007227	biolink:Disease	Sillence syndrome	Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.	Orphanet:3168|UMLS:C0342282|GARD:0004869|MESH:C537338|OMIM:113450|UMLS:C1862092|SCTID:732956000	mondo.json	brachydactyly-symphalangism syndrome|brachydactyly-distal symphalangism syndrome	http://purl.obolibrary.org/obo/MONDO_0007227	https://omim.org/entry/113450|Orphanet:3168|UMLS:C1862092|http://identifiers.org/mesh/C537338|http://identifiers.org/snomedct/732956000	ordo_malformation_syndrome
MONDO:0034846	biolink:Disease	primary desmosis coli	A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation.	Orphanet:565641	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034846	Orphanet:565641	ordo_disease
MONDO:0009889	biolink:Disease	autosomal recessive polycystic kidney disease	Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.	DOID:0110861|ICD9:753.14|GARD:0008378|Orphanet:731|OMIM:263200|SCTID:28770003|MedDRA:10036047|NCIT:C84579|UMLS:C0085548	mondo.json	polycystic kidney disease, autosomal recessive|ARPKD|autosomal recessive polycystic kidney|PKHD1|AR-PKD|polycystic kidney disease, infantile type|polycystic kidney disease, infantile, type I|polycystic kidney and hepatic disease 1	http://purl.obolibrary.org/obo/MONDO_0009889	NCIT:C84579|UMLS:C0085548|http://identifiers.org/snomedct/28770003|Orphanet:731|DOID:0110861	ordo_disease
MONDO:0007228	biolink:Disease	brachymesomelia-renal syndrome		OMIM:113470|GARD:0000988|MESH:C537096|UMLS:C1862084	mondo.json	brachymesomelia renal syndrome|brachymesomelia-renal syndrome|severe upper limb brachymesomelia, glomerulocystic renal dysplasia, cranial and facial abnormalities, corneal opacities	http://purl.obolibrary.org/obo/MONDO_0007228	https://omim.org/entry/113470|UMLS:C1862084|http://identifiers.org/mesh/C537096	
CHR:9606-chr12p1	biolink:NamedThing	12p1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr12p1		
MONDO:0022865	biolink:Disease	corneal dystrophy ichthyosis microcephaly intellectual disability		GARD:0001528	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022865		gard_rare
MONDO:0010877	biolink:Disease	Charcot-Marie-Tooth disease type 5	Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.	DOID:0080067|SCTID:76043009|GARD:0009208|UMLS:CN074211|OMIM:600361|Orphanet:64751	mondo.json	hereditary motor and sensory neuropathy 5|CMT with pyramidal features|hereditary motor and sensory neuropathy type 5|Charcot-Marie-Tooth neuropathy with pyramidal features, autosomal dominant|HMSN 5|hereditary motor and sensory neuropathy with pyramidal features|peroneal muscular atrophy with pyramidal features, autosomal dominant|HMSN5|hereditary motor and sensory neuropathy V|Charcot-Marie-Tooth disease-pyramidal features syndrome|Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0010877	UMLS:CN074211|DOID:0080067|http://identifiers.org/snomedct/76043009|https://omim.org/entry/600361|Orphanet:64751	ordo_disease
MONDO:0009888	biolink:Disease	polycystic kidney, cataract, and congenital blindness		OMIM:263100|MESH:C564882|UMLS:C1849771	mondo.json	polycystic kidney, cataract, and congenital blindness	http://purl.obolibrary.org/obo/MONDO_0009888	https://omim.org/entry/263100|http://identifiers.org/mesh/C564882|UMLS:C1849771	
MONDO:0020203	biolink:Disease	pigmented conjunctival lesion		Orphanet:98615	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020203	Orphanet:98615	disease_grouping|ordo_group_of_disorders
MONDO:0007225	biolink:Disease	fibular aplasia-ectrodactyly syndrome	Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females.	UMLS:C1862100|OMIM:113310|MESH:C537930|Orphanet:1118|GARD:0002331	mondo.json	fibular aplasia ectrodactyly|brachydactyly-ectrodactyly with fibular aplasia or hypoplasia	http://purl.obolibrary.org/obo/MONDO_0007225	https://omim.org/entry/113310|UMLS:C1862100|Orphanet:1118|http://identifiers.org/mesh/C537930	ordo_malformation_syndrome
MONDO:0007226	biolink:Disease	brachydactyly-nystagmus-cerebellar ataxia syndrome	Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients.	Orphanet:1246|MESH:C566192|ICD9:759.89|OMIM:113400|SCTID:205828009|GARD:0000971|GARD:0000881	mondo.json	Biemond syndrome type 1|brachydactyly - nystagmus - cerebellar ataxia|brachydactyly, nystagmus and cerebellar ataxia|Biemond syndrome|brachydactyly-NYSTAGMUS-cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0007226	https://omim.org/entry/113400|http://identifiers.org/snomedct/205828009|Orphanet:1246|http://identifiers.org/mesh/C566192	ordo_malformation_syndrome|gard_rare
MONDO:0020202	biolink:Disease	obsolete conjunctival lymphangiectasia		Orphanet:98614|ICD9:372.89|UMLS:C0339186|SCTID:231871007	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020202	UMLS:C0339186|Orphanet:98614|http://identifiers.org/snomedct/231871007	
RO:0002331	biolink:NamedThing	involved in	c involved_in p if and only if c enables some process p', and p' is part of p		mondo.json		http://purl.obolibrary.org/obo/RO_0002331		
MONDO:0010876	biolink:Disease	recessive aplasia cutis congenita of limbs	Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980.	GARD:0000754|Orphanet:1115|MESH:C536840|SCTID:723500009|OMIM:600360|UMLS:C1838206	mondo.json	recessive aplasia cutis congenita of the limbs|congenital absence of skin on the upper or lower limbs|aplasia cutis congenita of limbs, autosomal recessive|aplasia cutis congenita of limbs recessive	http://purl.obolibrary.org/obo/MONDO_0010876	UMLS:C1838206|http://identifiers.org/mesh/C536840|http://identifiers.org/snomedct/723500009|https://omim.org/entry/600360	ordo_disease|gard_rare
MONDO:0009887	biolink:Disease	desquamative interstitial pneumonia	A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis.	SCTID:8549006|NCIT:C35288|Orphanet:98852|OMIM:263000|ICD9:516.37|MESH:C562470|DOID:0050158|UMLS:C0238378|ICD9:516.34	mondo.json	familial desquamative interstitial pneumonitis|interstitial pneumonitis, desquamative, familial|pneumonia, desquamative interstitial, familial|DIP|respiratory bronchiolitis-associated interstitial lung disease|RBILD|respiratory bronchiolitis interstitial lung disease|interstitial lung disease, desquamative|ILD, desquamative|desquamative interstitial pneumonia|pneumonitis, desquamative interstitial, familial	http://purl.obolibrary.org/obo/MONDO_0009887	http://identifiers.org/snomedct/8549006|UMLS:C0238378|NCIT:C35288|DOID:0050158|Orphanet:98852|https://omim.org/entry/263000|http://identifiers.org/mesh/C562470	ordo_disease
MONDO:0020201	biolink:Disease	obsolete conjunctival telangiectasia		Orphanet:98613|HP:0000524|UMLS:C0239105|MedDRA:10072143	mondo.json	obsolete conjunctival telangiectasia (disease)|conjunctival telangiectasia	http://purl.obolibrary.org/obo/MONDO_0020201	Orphanet:98613|UMLS:C0239105	
MONDO:0009886	biolink:Disease	pleoconial myopathy with salt craving		GARD:0010318|UMLS:C1849773|MESH:C564883|OMIM:262900	mondo.json	pleoconial myopathy with salt craving	http://purl.obolibrary.org/obo/MONDO_0009886	https://omim.org/entry/262900|http://identifiers.org/mesh/C564883|UMLS:C1849773	gard_rare
MONDO:0010879	biolink:Disease	CODAS syndrome	Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.	DOID:0111274|Orphanet:1458|MESH:C536434|OMIM:600373|SCTID:717772000|UMLS:C1838180|GARD:0001418|NCIT:C126744	mondo.json	cerebrooculodentoauriculoskeletal syndrome|cerebral, ocular, dental, auricular, and skeletal anomalies syndrome|cerebro-oculo-dento-auriculo-skeletal syndrome|CODAS syndrome|cerebral, ocular, dental, auricular, and skeletal syndrome	http://purl.obolibrary.org/obo/MONDO_0010879	Orphanet:1458|UMLS:C1838180|DOID:0111274|http://identifiers.org/mesh/C536434|http://identifiers.org/snomedct/717772000|NCIT:C126744|https://omim.org/entry/600373	gard_rare|ordo_malformation_syndrome
MONDO:0007223	biolink:Disease	brachydactyly type E1	Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene.	MESH:C566194|OMIM:113300|DOID:0110972	mondo.json	brachydactyly, type E1|brachydactyly type E caused by mutation in HOXD13|BDE1|HOXD13 brachydactyly type E|brachydactyly, type E	http://purl.obolibrary.org/obo/MONDO_0007223	https://omim.org/entry/113300|http://identifiers.org/mesh/C566194|DOID:0110972	
MONDO:0010878	biolink:Disease	hereditary spastic paraplegia 6	Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.	UMLS:C4518537|MESH:C536866|DOID:0110811|SCTID:732949006|OMIM:600363|UMLS:C1838192|GARD:0004928|Orphanet:100988	mondo.json	NIPA1 hereditary spastic paraplegia|SPG6|FSP3|familial spastic paraplegia autosomal dominant 3|spastic paraplegia 6|hereditary spastic paraplegia caused by mutation in NIPA1|familial spastic paraplegia, autosomal dominant, 3|autosomal dominant spastic paraplegia type 6|spastic paraplegia 6, autosomal dominant|autosomal dominant spastic paraplegia 6|hereditary spastic paraplegia type 6|autosomal dominant familial spastic paraplegia type 3	http://purl.obolibrary.org/obo/MONDO_0010878	Orphanet:100988|UMLS:C1838192|http://identifiers.org/mesh/C536866|DOID:0110811|http://identifiers.org/snomedct/732949006|https://omim.org/entry/600363|UMLS:C4518537	ordo_disease
MONDO:0020200	biolink:Disease	obsolete conjunctival hemangioma or hemolymphangioma		Orphanet:98612	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020200	Orphanet:98612	
MONDO:0009885	biolink:Disease	Scott syndrome	Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.	DOID:0111052|UMLS:C0796149|SCTID:128098009|GARD:0004777|MESH:C563120|Orphanet:806|OMIM:262890	mondo.json	Platelet factor X receptor deficiency|familial prothrombin consumption inhibitor|Scott syndrome|prothrombin consumption inhibitor, familial|BDPLT7|bleeding disorder, Platelet-type, 7|prothrombin consumption deficiency|bleeding abnormality due to deficiency of platelet biding of factor X|SCTS|familial prothrombin conversion defect|platelet-type bleeding disorder 7|prothrombin conversion defect, familial|bleeding Abnormality due to deficiency of Platelet binding of Factor 10	http://purl.obolibrary.org/obo/MONDO_0009885	https://omim.org/entry/262890|UMLS:C0796149|DOID:0111052|http://identifiers.org/snomedct/128098009|Orphanet:806|http://identifiers.org/mesh/C563120	gard_rare|ordo_disease
MONDO:0007224	biolink:Disease	brachydactyly, type E, with atrial septal defect, type 2		MESH:C566193|UMLS:C1862101|OMIM:113301	mondo.json	brachydactyly, type E, with atrial septal defect, type II	http://purl.obolibrary.org/obo/MONDO_0007224	https://omim.org/entry/113301|UMLS:C1862101|http://identifiers.org/mesh/C566193	
RO:0002333	biolink:NamedThing	enabled by	inverse of enables		mondo.json		http://purl.obolibrary.org/obo/RO_0002333		
MONDO:0007221	biolink:Disease	brachydactyly type C		DOID:0110970|GARD:0000986|Orphanet:93384|MESH:C537093|OMIM:113100|UMLS:C1862103	mondo.json	brachydactyly, type C|brachydactyly type C|brachydactyly, Haws type|brachydactyly Haws type	http://purl.obolibrary.org/obo/MONDO_0007221	Orphanet:93384|UMLS:C1862103|http://identifiers.org/mesh/C537093|DOID:0110970|https://omim.org/entry/113100	ordo_malformation_syndrome
MONDO:0009884	biolink:Disease	platelet prostacyclin receptor defect		UMLS:C1849774|MESH:C564884|OMIM:262875	mondo.json	platelet prostacyclin receptor defect|Vienna-Hietzing defect	http://purl.obolibrary.org/obo/MONDO_0009884	https://omim.org/entry/262875|http://identifiers.org/mesh/C564884|UMLS:C1849774	
MONDO:0009883	biolink:Disease	alpha-2-plasmin inhibitor deficiency	Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner.	SCTID:716746003|DOID:0060601|GARD:0000731|Orphanet:79|OMIM:262850|MESH:C537777|UMLS:C2752081	mondo.json	antiplasmin deficiency|antiplasmin deficiency, congenital|plasmin inhibitor deficiency|anti-plasmin deficiency, congenital|congenital alpha2-antiplasmin deficiency|antiplasmin defiency|alpha-2-plasmin inhibitor deficiency	http://purl.obolibrary.org/obo/MONDO_0009883	http://identifiers.org/snomedct/716746003|https://omim.org/entry/262850|http://identifiers.org/mesh/C537777|UMLS:C2752081|DOID:0060601|Orphanet:79	ordo_disease
MONDO:0007222	biolink:Disease	brachydactyly type D	A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1.	Orphanet:93385|MESH:C562420|OMIM:113200|DOID:0110971	mondo.json	brachydactyly, type D|BDD|stub thumb	http://purl.obolibrary.org/obo/MONDO_0007222	Orphanet:93385|DOID:0110971|http://identifiers.org/mesh/C562420|https://omim.org/entry/113200	
MONDO:0009882	biolink:Disease	plasma clot retraction factor, deficiency of		MESH:C564885|OMIM:262800|UMLS:C1849778	mondo.json	plasma clot retraction factor, deficiency of	http://purl.obolibrary.org/obo/MONDO_0009882	https://omim.org/entry/262800|http://identifiers.org/mesh/C564885|UMLS:C1849778	
MONDO:0007220	biolink:Disease	brachydactyly type B1	Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene.	OMIM:113000|DOID:0110969|Orphanet:572385|MESH:C566196	mondo.json	ROR2 brachydactyly type B|brachydactyly type B caused by mutation in ROR2|brachydactyly, type B1|brachydactyly, type B|BDB1	http://purl.obolibrary.org/obo/MONDO_0007220	http://identifiers.org/mesh/C566196|Orphanet:572385|DOID:0110969|https://omim.org/entry/113000	
MONDO:0009881	biolink:Disease	pituitary dwarfism with large sella turcica		ICD9:253.8|SCTID:27270004|MESH:C562705|GARD:0010607|OMIM:262710|UMLS:C0271575	mondo.json	pituitary dwarfism with large sella turcica	http://purl.obolibrary.org/obo/MONDO_0009881	https://omim.org/entry/262710|UMLS:C0271575|http://identifiers.org/snomedct/27270004|http://identifiers.org/mesh/C562705	gard_rare
MONDO:0010880	biolink:Disease	telangiectasia, hereditary hemorrhagic, type 2	Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene.	OMIM:600376|GARD:0009901	mondo.json	telangiectasia hereditary hemorrhagic type 2|Osler Weber Rendu syndrome type 2|hereditary hemorrhagic telangiectasia caused by mutation in ACVRL1|ORW2|telangiectasia, hereditary hemorrhagic, type 2|HHT2|ACVRL1 hereditary hemorrhagic telangiectasia|hereditary hemorrhagic telangiectasia type 2|pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related	http://purl.obolibrary.org/obo/MONDO_0010880	https://omim.org/entry/600376	gard_rare
MONDO:0009880	biolink:Disease	short stature-pituitary and cerebellar defects-small sella turcica syndrome	Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).	UMLS:C2678408|OMIM:262700|Orphanet:85442|MESH:C567492|GARD:0010604	mondo.json	short stature, pituitary and cerebellar defects, and small sella turcica|pituitary hormone deficiency, combined, type 4|pituitary hormone deficiency, combined, with or without cerebellar defects|pituitary hormone deficiency, combined 4|CPHD4|pituitary hormone deficiency, combined with or without cerebellar defects|pituitary hormone deficiency, combined, 4|short stature, pituitary and cerebellar defects and small sella turcica	http://purl.obolibrary.org/obo/MONDO_0009880	http://identifiers.org/mesh/C567492|Orphanet:85442|https://omim.org/entry/262700|UMLS:C2678408	ordo_disease
HGNC:2395	biolink:NamedThing	CRYBA2			mondo.json		http://identifiers.org/hgnc/2395		
RO:0002327	biolink:NamedThing	enables			mondo.json		http://purl.obolibrary.org/obo/RO_0002327		
RO:0002328	biolink:NamedThing	functionally related to	A grouping relationship for any relationship directly involving a function, or that holds because of a function of one of the related entities.		mondo.json		http://purl.obolibrary.org/obo/RO_0002328		
HGNC:2394	biolink:NamedThing	CRYBA1			mondo.json		http://identifiers.org/hgnc/2394		
MONDO:0010882	biolink:Disease	aphalangy-syndactyly-microcephaly syndrome	Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.	Orphanet:1113|GARD:0000748|MESH:C563942|OMIM:600384|UMLS:C1838161	mondo.json	Aphalangia, partial, with syndactyly and Duplication of metatarsal type 4|Aphalangia partial with syndactyly and duplication of metatarsal IV|APHALANGIA, partial, with syndactyly and DUPLICATION of metatarsal IV|Aphalangia, partial, with syndactyly and Duplication of metatarsal 4	http://purl.obolibrary.org/obo/MONDO_0010882	UMLS:C1838161|http://identifiers.org/mesh/C563942|https://omim.org/entry/600384|Orphanet:1113	ordo_malformation_syndrome|gard_rare
RO:0002329	biolink:NamedThing	part of structure that is capable of	this relation holds between c and p when c is part of some c', and c' is capable of p.		mondo.json		http://purl.obolibrary.org/obo/RO_0002329		
MONDO:0010881	biolink:Disease	mesomelia-synostoses syndrome	A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.	MESH:C537348|GARD:0004302|Orphanet:2496|UMLS:C1838162|OMIM:600383|SCTID:724147004	mondo.json	mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type|mesomelia synostoses|mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type|dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis|mesomelic dysplasia, syndromic|Verloes-David syndrome|8q13 microdeletion syndrome|mesomelia-synostoses syndrome|chromosome 8Q13 deletion syndrome|Del(8)q(13)|monosomy 8q13	http://purl.obolibrary.org/obo/MONDO_0010881	UMLS:C1838162|http://identifiers.org/snomedct/724147004|https://omim.org/entry/600383|Orphanet:2496|http://identifiers.org/mesh/C537348	ordo_malformation_syndrome|gard_rare
MONDO:0019218	biolink:Disease	inborn disorder of bile acid synthesis	Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.	UMLS:CN231736|Orphanet:79168|UMLS:CN544763|GTR:AN0923838	mondo.json	disorder of bile acid synthesis|inborn errors of bile acid synthesis|inborn error of bile acid biosynthetic process|rare inborn error of bile acid biosynthetic process|inborn bile acid biosynthetic process disorder	http://purl.obolibrary.org/obo/MONDO_0019218	UMLS:CN231736|UMLS:CN544763|Orphanet:79168	ordo_group_of_disorders|disease_grouping
RO:0002323	biolink:NamedThing	mereotopologically related to	A mereological relationship or a topological relationship		mondo.json		http://purl.obolibrary.org/obo/RO_0002323		
MONDO:0010884	biolink:Disease	muscular dystrophy, scapulohumeral		UMLS:C0410192|MESH:C562932|SCTID:240074006|OMIM:600416	mondo.json	muscular dystrophy, scapulohumeral	http://purl.obolibrary.org/obo/MONDO_0010884	http://identifiers.org/snomedct/240074006|https://omim.org/entry/600416|http://identifiers.org/mesh/C562932|UMLS:C0410192	
MONDO:0010883	biolink:Disease	pectus excavatum-macrocephaly-dysplastic nails syndrome	Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.	SCTID:763863002|Orphanet:2835|OMIM:600399|GARD:0000374|UMLS:C2931302|MESH:C536728	mondo.json	pectus excavatum, macrocephaly, short stature, and dysplastic nails|familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails|Zori-Stalker-Williams syndrome|Zori Stalker Williams syndrome|pectus excavatum, macrocephaly and dysplastic nails	http://purl.obolibrary.org/obo/MONDO_0010883	http://identifiers.org/snomedct/763863002|http://identifiers.org/mesh/C536728|UMLS:C2931302|https://omim.org/entry/600399|Orphanet:2835	ordo_malformation_syndrome
RO:0002324	biolink:NamedThing	developmentally related to	A relationship that holds between entities participating in some developmental process (GO:0032502)		mondo.json		http://purl.obolibrary.org/obo/RO_0002324		
MONDO:0019217	biolink:Disease	obsolete inborn disorder of urea cycle metabolism and ammonia detoxification			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019217		
MONDO:0010886	biolink:Disease	2q37 microdeletion syndrome	A chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.	GARD:0010202|DOID:0111704|MESH:C538317|OMIM:600430|ICD9:758.39|NCIT:C129021|UMLS:C2931817|Orphanet:1001|DECIPHER:44|SCTID:702357000	mondo.json	BDMR|Albright hereditary osteodystrophy type 3|2q37 deletion syndrome|2q37 microdeletion syndrome|2q37 monosomy|brachydactyly-intellectual disability syndrome|chromosome 2q37 deletion syndrome|brachydactyly-mental retardation syndrome|Albright hereditary osteodystrophy-like syndrome|Del(2)(q37)|brachydactyly mental retardation syndrome|deletion 2q37-qter|monosomy 2q37-qter|deletion 2q37|brachydactyly intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0010886	DOID:0111704|https://omim.org/entry/600430|UMLS:C2931817|http://identifiers.org/snomedct/702357000|http://identifiers.org/mesh/C538317|Orphanet:1001|NCIT:C129021	ordo_malformation_syndrome
MONDO:0010885	biolink:Disease	angiokeratoma corporis diffusum with arteriovenous fistulas		OMIM:600419|UMLS:C1838141|MESH:C563940	mondo.json	angiokeratoma corporis diffusum with arteriovenous fistulas	http://purl.obolibrary.org/obo/MONDO_0010885	UMLS:C1838141|http://identifiers.org/mesh/C563940|https://omim.org/entry/600419	
MONDO:0019219	biolink:Disease	inborn disorder of neurotransmitter metabolism and transport		Orphanet:79169|UMLS:CN227586	mondo.json	disorder of neurotransmitter metabolism and transport	http://purl.obolibrary.org/obo/MONDO_0019219	UMLS:CN227586|Orphanet:79169	ordo_group_of_disorders|disease_grouping
MONDO:0019214	biolink:Disease	inborn carbohydrate metabolic disorder	An inherited metabolic disease that is has its basis in the disruption of carbohydrate metabolic process.	DOID:2978|NCIT:C97089|MedDRA:10061023|MESH:D002239|ICD9:271.8|Orphanet:79161|EFO:1000061	mondo.json	rare inborn error of carbohydrate metabolic process|inborn errors of carbohydrate metabolism|disorder of carbohydrate metabolism|disorder of carbohydrate transport and metabolism|inborn carbohydrate metabolism disorder|carbohydrate metabolism disorder|carbohydrate metabolic disorder|inborn error of carbohydrate metabolic process|inborn carbohydrate metabolic process disorder	http://purl.obolibrary.org/obo/MONDO_0019214	http://identifiers.org/mesh/D002239|Orphanet:79161|NCIT:C97089|DOID:2978	disease_grouping|ordo_group_of_disorders
MONDO:0022855	biolink:Disease	congenital vagal hyperreflexivity		GARD:0001508	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022855		gard_rare
MONDO:0019213	biolink:Disease	cerebral organic aciduria	A inherited organic acidemia that involves the brain.	Orphanet:79158	mondo.json	inherited organic acidemia of brain|brain inherited organic acidemia	http://purl.obolibrary.org/obo/MONDO_0019213	Orphanet:79158	ordo_group_of_disorders|disease_grouping
MONDO:0022856	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0022856		
MONDO:0019216	biolink:Disease	inborn disorder of amino acid transport		Orphanet:79166|ICD9:270.0|UMLS:C0268641|SCTID:16784003	mondo.json	disorder of amino acid absorption and transport|inborn disorder of amino acid absorption and transport	http://purl.obolibrary.org/obo/MONDO_0019216	UMLS:C0268641|Orphanet:79166|http://identifiers.org/snomedct/16784003	disease_grouping|ordo_group_of_disorders
MONDO:0022857	biolink:Disease	obsolete continuous muscle fiber activity hereditary			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022857		
MONDO:0022858	biolink:Disease	continuous spike-wave during slow sleep syndrome		GARD:0001513	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022858		gard_rare
MONDO:0019215	biolink:Disease	classic organic aciduria		Orphanet:79163	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019215	Orphanet:79163	disease_grouping|ordo_group_of_disorders
MONDO:0019210	biolink:Disease	cutaneous neuroendocrine carcinoma	Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC)).	ICD9:209.36|ONCOTREE:MCC|GARD:0009266|SCTID:253001006|UMLS:C0007129|Orphanet:79140|MESH:D015266|EFO:1001471|NCIT:C9231|ICDO:8247/3	mondo.json	MCC|cutaneous APUDoma|carcinoma of Merkel cell|trabecular cancer|cutaneous neuroendocrine carcinoma|Merkle tumors|Merkel cell carcinoma|neuroendocrine skin carcinoma|Merkel cell tumor|trabecular skin carcinoma|neuroendocrine carcinoma of skin|carcinoma, Merkel cell|Merkel cell cancer|neuroendocrine carcinoma of the skin	http://purl.obolibrary.org/obo/MONDO_0019210	http://identifiers.org/mesh/D015266|NCIT:C9231|UMLS:C0007129|Orphanet:79140|http://identifiers.org/snomedct/253001006	ordo_disease
MONDO:0022859	biolink:Disease	cor biloculare	A congenital anatomic anomaly in which the heart has only two chambers.	SCTID:81990004|GARD:0006193|NCIT:C124591|ICD9:745.7|UMLS:C0152238	mondo.json	TWO-chambered heart|cor biloculare|Cor Biloculare|absence of atrial and ventricular septa	http://purl.obolibrary.org/obo/MONDO_0022859	http://identifiers.org/snomedct/81990004|NCIT:C124591|UMLS:C0152238	gard_rare
HGNC:2398	biolink:NamedThing	CRYBB2			mondo.json		http://identifiers.org/hgnc/2398		
HGNC:17146	biolink:NamedThing	ARL2BP			mondo.json		http://identifiers.org/hgnc/17146		
MONDO:0019212	biolink:Disease	disseminated superficial actinic porokeratosis	Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.	Orphanet:79152|SCTID:41495000|GARD:0010983|ICD9:692.75	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019212	http://identifiers.org/snomedct/41495000|Orphanet:79152	ordo_disease
HGNC:2397	biolink:NamedThing	CRYBB1			mondo.json		http://identifiers.org/hgnc/2397		
MONDO:0019211	biolink:Disease	isolated congenital anonychia	Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.	Orphanet:79143|GARD:0012930	mondo.json	congenital anonychia|autosomal recessive nonsyndromic congenital nail disorder-4|isolated anonychia|nonsyndromic congenital nail disorder, 4	http://purl.obolibrary.org/obo/MONDO_0019211	Orphanet:79143	ordo_disease
HGNC:2396	biolink:NamedThing	CRYBA4			mondo.json		http://identifiers.org/hgnc/2396		
HGNC:17151	biolink:NamedThing	ORC6			mondo.json		http://identifiers.org/hgnc/17151		
HP:0100774	biolink:PhenotypicFeature	Hyperostosis	Excessive growth or abnormal thickening of bone tissue.	SNOMEDCT_US:203514008|MSH:D015576|UMLS:C0020492|SNOMEDCT_US:13814009	mondo.json	Bone overgrowth|Bone Hypertrophy	http://purl.obolibrary.org/obo/HP_0100774		
MONDO:0022850	biolink:Disease	obsolete congenital sucrose isomaltose malabsorption			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022850		
MONDO:0022851	biolink:Disease	Dennis-Fairhurst-Moore syndrome	A severe form of Hallermann-Streiff syndrome, observed in one family. This is an n-of-1 use case where only one patient or family has been described with this disorder.	OMIM:234100|MESH:C538210|Orphanet:2109|GARD:0000290	mondo.json	Dennis Fairhurst Moore syndrome|Hallermam Streiff like syndrome	http://purl.obolibrary.org/obo/MONDO_0022851	Orphanet:2109|http://identifiers.org/mesh/C538210	n_of_one|gard_rare
MONDO:0007238	biolink:Disease	amastia	Absence of one or both mammary glands.	SCTID:75474006|UMLS:CN033494|GARD:0009489|NCIT:C118459|OMIM:113700|MESH:C535565	mondo.json	complete absence of breasts|BNAH1|absent breasts and nipples|breasts and/or nipples, aplasia or hypoplasia of, 1|athelia|amazia|amastia	http://purl.obolibrary.org/obo/MONDO_0007238	http://identifiers.org/snomedct/75474006|NCIT:C118459|UMLS:CN033494|http://identifiers.org/mesh/C535565	gard_rare
CHR:9606-chr12q1	biolink:NamedThing	12q1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr12q1		
MONDO:0007239	biolink:Disease	epidermolytic ichthyosis	A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.	MESH:D017488|SCTID:254167000|DOID:4603|NCIT:C62569|GARD:0001039|OMIM:113800|Orphanet:312	mondo.json	BCIE|epidermolytic ichthyosis|bullous congenital ichthyosiform erythroderma|epidermolytic hyperkeratosis|bullous congenital ichthyosiform erythroderma of Brock|epidermolytic palmoplantar hyperkeratosis|bullous erythroderma Ichthyosiformis congenita of Brocq|epidermolytic hyperkeratosis, late-onset|congenital bullous ichthyosiform erythroderma|EI|bullous ichthyosis|bullous ichthyosiform erythroderma|autosomal dominant epidermolytic ichthyosis|EHK|bullous ichthyosiform erythroderma congenita|ichthyosis hystrix Brocq type	http://purl.obolibrary.org/obo/MONDO_0007239	http://identifiers.org/mesh/D017488|https://omim.org/entry/113800|http://identifiers.org/snomedct/254167000|Orphanet:312|DOID:4603|NCIT:C62569	ordo_disease
MONDO:0022854	biolink:Disease	congenital unilateral pulmonary hypoplasia		GARD:0001507	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022854		gard_rare
MONDO:0009899	biolink:Disease	polyhydramnios, chronic idiopathic		MESH:C564876|UMLS:C1849720|OMIM:263610	mondo.json	polyhydramnios, chronic idiopathic|Lactogen receptor defect of chorion	http://purl.obolibrary.org/obo/MONDO_0009899	http://identifiers.org/mesh/C564876|UMLS:C1849720|https://omim.org/entry/263610	
MONDO:0007236	biolink:Disease	branchiootorenal syndrome 1		OMIM:113650|DOID:0111423	mondo.json	Melnick-Fraser syndrome|branchiootorenal syndrome 1|BOR1|branchiootorenal dysplasia|branchiootorenal syndrome type 1|branchiootorenal syndrome 1, with or without cataracts	http://purl.obolibrary.org/obo/MONDO_0007236	https://omim.org/entry/113650|DOID:0111423	
MONDO:0010866	biolink:Disease	infantile osteopetrosis with neuroaxonal dysplasia	This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.	Orphanet:85179|UMLS:C1838258|SCTID:724226009|MESH:C536055|GARD:0010082|OMIM:600329	mondo.json	osteopetrosis and infantile neuroaxonal dystrophy	http://purl.obolibrary.org/obo/MONDO_0010866	Orphanet:85179|http://identifiers.org/mesh/C536055|UMLS:C1838258|http://identifiers.org/snomedct/724226009|https://omim.org/entry/600329	ordo_malformation_syndrome
MONDO:0009898	biolink:Disease	polysaccharide, storage of unusual		MESH:C564877|OMIM:263600	mondo.json	polysaccharide, storage of unusual	http://purl.obolibrary.org/obo/MONDO_0009898	http://identifiers.org/mesh/C564877|https://omim.org/entry/263600	
MONDO:0010865	biolink:Disease	pseudoaminopterin syndrome	Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.	OMIM:600325|MESH:C535823|Orphanet:221120|UMLS:C0795939|SCTID:715867000|GARD:0004544|ICD10CM:Q82.0	mondo.json	pseudoaminopterin syndrome|aminopterin syndrome sine aminopterin|aminopterin syndrome-like sine aminopterin|ASSA	http://purl.obolibrary.org/obo/MONDO_0010865	UMLS:C0795939|http://identifiers.org/mesh/C535823|Orphanet:221120|http://identifiers.org/snomedct/715867000|https://omim.org/entry/600325	gard_rare|ordo_malformation_syndrome
MONDO:0007237	biolink:Disease	familial juvenile hypertrophy of the breast	Familial juvenile hypertrophy of the breast is a rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal.	ICD10CM:N62|UMLS:CN226754|MESH:C536821|Orphanet:180176|OMIM:113670	mondo.json	hypertrophy of the breast, juvenile|gigantomastia, juvenile|familial juvenile gigantomastia|virginal mammary hypertrophy|juvenile gigantomastia|juvenile macromastia|virginal breast hypertrophy|JHB	http://purl.obolibrary.org/obo/MONDO_0007237	https://omim.org/entry/113670|Orphanet:180176|UMLS:CN226754|http://identifiers.org/mesh/C536821	ordo_morphological_anomaly
RO:0002320	biolink:NamedThing	evolutionarily related to	A relationship that holds via some environmental process		mondo.json		http://purl.obolibrary.org/obo/RO_0002320		
MONDO:0009897	biolink:Disease	adult polyglucosan body disease	Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.	SCTID:721099001|MESH:C564878|GARD:0000108|OMIM:263570|Orphanet:206583	mondo.json	polyglucosan body neuropathy, adult form|APBD|APBN|polyglucosan body disease, adult form|polyglucosan body disease, adult	http://purl.obolibrary.org/obo/MONDO_0009897	http://identifiers.org/snomedct/721099001|http://identifiers.org/mesh/C564878|Orphanet:206583|https://omim.org/entry/263570	ordo_clinical_subtype|gard_rare
MONDO:0007234	biolink:Disease	branchial myoclonus with spastic paraparesis and cerebellar ataxia		OMIM:113610|UMLS:C1862071|MESH:C566188	mondo.json	branchial myoclonus with spastic paraparesis and cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0007234	https://omim.org/entry/113610|UMLS:C1862071|http://identifiers.org/mesh/C566188	
RO:0002321	biolink:NamedThing	ecologically related to	A relationship that is mediated in some way by the environment or environmental feature (ENVO:00002297)		mondo.json		http://purl.obolibrary.org/obo/RO_0002321		
MONDO:0010868	biolink:Disease	rippling muscle disease 1		GARD:0009165|OMIM:600332|DOID:0070308	mondo.json	RMD1|rippling muscle disease, 1|rippling muscle disease-1|rippling muscle disease 1	http://purl.obolibrary.org/obo/MONDO_0010868	https://omim.org/entry/600332|DOID:0070308	
MONDO:0010867	biolink:Disease	PARC syndrome	PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.	MESH:C537174|Orphanet:2825|UMLS:C1838256|OMIM:600331|GARD:0004223	mondo.json	poikiloderma, alopecia, retrognathism, and cleft palate|PARC syndrome|poikiloderma-alopecia-retrognathism-cleft palate syndrome	http://purl.obolibrary.org/obo/MONDO_0010867	http://identifiers.org/mesh/C537174|Orphanet:2825|UMLS:C1838256|https://omim.org/entry/600331	gard_rare|ordo_malformation_syndrome
MONDO:0007235	biolink:Disease	branchiooculofacial syndrome	Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.	SCTID:449821007|ICD9:759.89|Orphanet:1297|OMIM:113620|GARD:0003212|DOID:0050691	mondo.json	branchio-oculo-facial syndrome|branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging|BOFS syndrome|BOFS|branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Aging|Bof syndrome|branchiooculofacial syndrome|lip Pseudocleft-Hemangiomatous branchial cyst syndrome|hemangiomatous branchial clefts-Lip Pseudocleft syndrome	http://purl.obolibrary.org/obo/MONDO_0007235	https://omim.org/entry/113620|Orphanet:1297|DOID:0050691|http://identifiers.org/snomedct/449821007	gard_rare|ordo_malformation_syndrome
RO:0002322	biolink:NamedThing	confers advantage in			mondo.json		http://purl.obolibrary.org/obo/RO_0002322		
MONDO:0009896	biolink:Disease	polymyoclonus, infantile		OMIM:263550|MESH:C535524|UMLS:C1849731	mondo.json	polymyoclonus, infantile	http://purl.obolibrary.org/obo/MONDO_0009896	http://identifiers.org/mesh/C535524|UMLS:C1849731|https://omim.org/entry/263550	
MONDO:0009895	biolink:Disease	postaxial polydactyly-dental and vertebral anomalies syndrome	Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.	OMIM:263540|UMLS:C1849732|Orphanet:2916|MESH:C564880	mondo.json	polydactyly, postaxial, with dental and vertebral anomalies	http://purl.obolibrary.org/obo/MONDO_0009895	Orphanet:2916|http://identifiers.org/mesh/C564880|UMLS:C1849732|https://omim.org/entry/263540	ordo_malformation_syndrome
MONDO:0007232	biolink:Disease	autosomal dominant brachyolmia	Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.	OMIM:113500|SCTID:717264003|Orphanet:93304|GARD:0010429	mondo.json	brachyrachia|brachyolmia type 3|brachyolmia autosomal dominant|BCYM3|brachyolmia, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007232	Orphanet:93304|http://identifiers.org/snomedct/717264003|https://omim.org/entry/113500	ordo_malformation_syndrome
MONDO:0007233	biolink:Disease	second branchial cleft anomaly	A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck.	OMIM:113600|Orphanet:141022|SCTID:73381000119100|NCIT:C104813	mondo.json	second branchial cleft cyst|second branchial cleft fistula|branchial cleft remnant|branchial cleft|branchial cysts|branchial cleft anomalies	http://purl.obolibrary.org/obo/MONDO_0007233	https://omim.org/entry/113600|Orphanet:141022|NCIT:C104813|http://identifiers.org/snomedct/73381000119100	ordo_morphological_anomaly
MONDO:0009894	biolink:Disease	short-rib thoracic dysplasia 6 with or without polydactyly	A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia.	DOID:0110092|OMIM:263520|NCIT:C122654	mondo.json	SRTD6|short-rib thoracic dysplasia 6 with or without polydactyly|Srps, type 2|polydactyly with neonatal chondrodystrophy type II|SRPS2A|short rib-polydactyly syndrome type IIA|short rib-polydactyly syndrome, type 2|Majewski syndrome|polydactyly with neonatal chondrodystrophy, type 2|polydactyly with neonatal chondrodystrophy, type II|short rib-polydactyly syndrome, type 2A|short rib-polydactyly syndrome type II	http://purl.obolibrary.org/obo/MONDO_0009894	NCIT:C122654|DOID:0110092|https://omim.org/entry/263520	
MONDO:0010869	biolink:Disease	motor neuron disease with dementia and ophthalmoplegia		MESH:C563954|OMIM:600333|UMLS:C1838253	mondo.json	motor neuron disease with dementia and ophthalmoplegia	http://purl.obolibrary.org/obo/MONDO_0010869	UMLS:C1838253|http://identifiers.org/mesh/C563954|https://omim.org/entry/600333	
MONDO:0007230	biolink:Disease	Brachymorphism-onychodysplasia-dysphalangism syndrome	Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.	OMIM:113477|Orphanet:1292|GARD:0000918|SCTID:720573009|UMLS:C1862082|MESH:C536242	mondo.json	bod syndrome|Brachymorphism onychodysplasia dysphalangism syndrome|Brachymorphism-onychodysplasia-dysphalangism syndrome|Senior syndrome	http://purl.obolibrary.org/obo/MONDO_0007230	UMLS:C1862082|Orphanet:1292|http://identifiers.org/snomedct/720573009|http://identifiers.org/mesh/C536242|https://omim.org/entry/113477	ordo_malformation_syndrome
MONDO:0009893	biolink:Disease	polydactyly, postaxial, type A5		OMIM:263450|UMLS:C3550661	mondo.json	polydactyly, postaxial, type A5|PAPA5	http://purl.obolibrary.org/obo/MONDO_0009893	UMLS:C3550661|https://omim.org/entry/263450	
MONDO:0009892	biolink:Disease	Chuvash polycythemia	Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.	UMLS:C1837915|Orphanet:238557|MESH:C563918|DOID:0060474|OMIM:263400	mondo.json	polycythemia, Chuvash type|Von Hippel-Lindau-dependent polycythemia|polycythemia, VHL-dependent|familial erythrocytosis 2|Chuvash erythromatosis|VHL familial polycythemia|Chuvash type polycythemia|erythrocytosis, familial, type 2|autosomal recessive benign erythrocytosis|Chuvash erythrocytosis|familial polycythemia caused by mutation in VHL|erythrocytosis, autosomal recessive benign|ECYT2|erythrocytosis, familial, 2|Chuvash polycythemia	http://purl.obolibrary.org/obo/MONDO_0009892	Orphanet:238557|DOID:0060474|UMLS:C1837915|https://omim.org/entry/263400|http://identifiers.org/mesh/C563918	ordo_disease
MONDO:0007231	biolink:Disease	brachytelephalangy-dysmorphism-Kallmann syndrome	Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986.	OMIM:113480|MESH:C537101|Orphanet:1295|UMLS:C2931421	mondo.json	BRACHYTELEPHALANGY with characteristic facies and Kallmann syndrome	http://purl.obolibrary.org/obo/MONDO_0007231	http://identifiers.org/mesh/C537101|Orphanet:1295|UMLS:C2931421|https://omim.org/entry/113480	ordo_malformation_syndrome
MONDO:0009891	biolink:Disease	acquired polycythemia vera	Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.	OMIM:263300|ONCOTREE:PV|MedDRA:10036057|MESH:D011087|ICDO:9950/3|DOID:8997|ICD9:238.4|ICD10CM:D45|GARD:0007422|Orphanet:729|UMLS:C0032463|EFO:0002429|NCIT:C3336	mondo.json	polycythaemia rubra vera|Osler-Vaquez syndrome|PV|primary polycythemia|polycythemia vera|Osler-Vaquez disease|PRV|polycythemia rubra vera|Vaquez disease|polycythemia vera, somatic|proliferative polycythaemia|acquired primary erythrocytosis	http://purl.obolibrary.org/obo/MONDO_0009891	Orphanet:729|http://purl.bioontology.org/ontology/ICD10CM/D45|http://identifiers.org/mesh/D011087|https://omim.org/entry/263300|NCIT:C3336|UMLS:C0032463|DOID:8997	ordo_disease
UBERON:0004099	biolink:AnatomicalEntity	joint space of elbow			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004099		
MONDO:0009890	biolink:Disease	Gillessen-Kaesbach-Nishimura syndrome		MESH:C564881|UMLS:C1849762|OMIM:263210	mondo.json	GIKANIS|polycystic kidney disease, Potter type I, with microbrachycephaly, hypertelorism, and brachymelia|Gillessen-Kaesbach-Nishimura syndrome|polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia	http://purl.obolibrary.org/obo/MONDO_0009890	http://identifiers.org/mesh/C564881|https://omim.org/entry/263210|UMLS:C1849762	
MONDO:0010871	biolink:Disease	succinic acidemia		OMIM:600335|UMLS:C1838243|Orphanet:936|MESH:C563952	mondo.json	succinic acidemia	http://purl.obolibrary.org/obo/MONDO_0010871	UMLS:C1838243|http://identifiers.org/mesh/C563952|https://omim.org/entry/600335	
MONDO:0010870	biolink:Disease	tibial muscular dystrophy	A distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.	UMLS:C1838244|Orphanet:609|OMIM:600334|DOID:0111078|UMLS:C1450052|SCTID:698846009	mondo.json	distal myopathy, Udd type|Finnish tibial muscular dystrophy|Udd type distal myopathy|Udd myopathy|distal titinopathy|tibial muscular dystrophy, tardive|TMD|Tmd|tardive tibial muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0010870	DOID:0111078|UMLS:C1838244|UMLS:C1450052|Orphanet:609|https://omim.org/entry/600334|http://identifiers.org/snomedct/698846009	ordo_disease
MONDO:0019207	biolink:Disease	DEND syndrome	DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.	SCTID:721088003|Orphanet:79134|UMLS:C1853564|UMLS:C4303593|NCIT:C131845	mondo.json	developmental delay-epilepsy-neonatal diabetes syndrome|K ATP associated developmental delay, epilepsy and neonatal diabetes	http://purl.obolibrary.org/obo/MONDO_0019207	NCIT:C131845|UMLS:C1853564|http://identifiers.org/snomedct/721088003|Orphanet:79134|UMLS:C4303593	ordo_disease
MONDO:0010873	biolink:Disease	band heterotopia of brain		MESH:C563950|UMLS:C1838239|OMIM:600348	mondo.json	band heterotopia of brain|band heterotopia|BH	http://purl.obolibrary.org/obo/MONDO_0010873	UMLS:C1838239|http://identifiers.org/mesh/C563950|https://omim.org/entry/600348	
MONDO:0010872	biolink:Disease	parotid salivary glands, polycystic dysgenetic disease of		OMIM:600343	mondo.json	PDDP|parotid salivary glands, polycystic dysgenetic disease OF	http://purl.obolibrary.org/obo/MONDO_0010872	https://omim.org/entry/600343	
MONDO:0019206	biolink:Disease	sparse hair-short stature-skin anomalies syndrome	Sparse hair-short stature-skin anomalies syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked.	Orphanet:79132|UMLS:CN205797	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019206	UMLS:CN205797|Orphanet:79132	ordo_malformation_syndrome
MONDO:0019209	biolink:Disease	Japanese encephalitis	A disease due to a virus transmitted by an arthropod).	MedDRA:10014596|Orphanet:79139|GARD:0006797|NCIT:C34577|MESH:D004672|EFO:0007332|ICD9:062.0|UMLS:C0014057|SCTID:52947006|DOID:10844	mondo.json	Japanese B encephalitis|JE	http://purl.obolibrary.org/obo/MONDO_0019209	http://identifiers.org/snomedct/52947006|http://identifiers.org/mesh/D004672|DOID:10844|UMLS:C0014057|NCIT:C34577|Orphanet:79139	ordo_disease|gard_rare
MONDO:0010875	biolink:Disease	pachydermodactyly, familial		OMIM:600356|MESH:C563947|UMLS:C1838218	mondo.json	pachydermodactyly, familial	http://purl.obolibrary.org/obo/MONDO_0010875	UMLS:C1838218|http://identifiers.org/mesh/C563947|https://omim.org/entry/600356	
RO:0002314	biolink:NamedThing	characteristic of part of	q characteristic of part of w if and only if there exists some p such that q inheres in p and p part of w.		mondo.json		http://purl.obolibrary.org/obo/RO_0002314		
MONDO:0019208	biolink:Disease	Bickerstaff brainstem encephalitis	Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma).	Orphanet:79138|UMLS:C1960543|ICD9:323.81|SCTID:427086003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019208	UMLS:C1960543|http://identifiers.org/snomedct/427086003|Orphanet:79138	ordo_disease
MONDO:0010874	biolink:Disease	enteropathy, familial, with villous edema and immunoglobulin G2 deficiency		MESH:C563949|OMIM:600351|UMLS:C1838238	mondo.json	enteropathy, familial, with villous edema and immunoglobulin G2 deficiency	http://purl.obolibrary.org/obo/MONDO_0010874	UMLS:C1838238|http://identifiers.org/mesh/C563949|https://omim.org/entry/600351	
MONDO:0019203	biolink:Disease	acute interstitial pneumonia	Acute interstitial pneumonia (AIP), also referred to as Hamman-Rich syndrome, is a rapidly progressive and histologically distinct form of idiopathic interstitial pneumonia.	Orphanet:79126|NCIT:C35806|ICD9:516.33|GARD:0012835|DOID:2800|SCTID:236302005|UMLS:C1279945|MedDRA:10066728	mondo.json	AIP|Hamman-rich disease|idiopathic pulmonary fibrosis, acute fatal form|accelerated interstitial pneumonia|Hamman-rich syndrome|acute interstitial pneumonitis	http://purl.obolibrary.org/obo/MONDO_0019203	DOID:2800|NCIT:C35806|http://identifiers.org/snomedct/236302005|UMLS:C1279945|Orphanet:79126	ordo_disease
UBERON:5102544	biolink:AnatomicalEntity	individual digit of digitopodial skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_5102544		
MONDO:0019202	biolink:Disease	myxofibrosarcoma	A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma.	SCTID:253042009|ICDO:8811/3|DOID:0080534|ONCOTREE:MFS|NCIT:C6496|MedDRA:10066948|Orphanet:79105	mondo.json	myxofibrosarcoma|MFS|fibromyxosarcoma|myxoid malignant fibrous histiocytoma|myxoid fibrous histiocytoma|myxoid MFH	http://purl.obolibrary.org/obo/MONDO_0019202	DOID:0080534|Orphanet:79105|NCIT:C6496|http://identifiers.org/snomedct/253042009	ordo_disease
HGNC:17158	biolink:NamedThing	PLD3			mondo.json		http://identifiers.org/hgnc/17158		
MONDO:0019205	biolink:Disease	trichodysplasia-amelogenesis imperfecta syndrome	The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked.	Orphanet:79129|UMLS:CN205796	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019205	UMLS:CN205796|Orphanet:79129	ordo_malformation_syndrome
MONDO:0022846	biolink:Disease	congenital nonhemolytic jaundice		GARD:0006177	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022846		gard_rare
MONDO:0019204	biolink:Disease	respiratory bronchiolitis-interstitial lung disease syndrome	Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening.	MedDRA:10066393|Orphanet:79127|UMLS:CN205794	mondo.json	RB-ILD	http://purl.obolibrary.org/obo/MONDO_0019204	UMLS:CN205794|Orphanet:79127	ordo_disease
MONDO:0022849	biolink:Disease	congenital stenosis of cervical medullary canal		GARD:0001504	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022849		gard_rare
MONDO:0019201	biolink:Disease	thyrotoxic periodic paralysis	Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.	Orphanet:79102|GARD:0010814|MedDRA:10043788|UMLS:C0268446|OMIMPS:188580|SCTID:30967002	mondo.json	thyrotoxic hypokalemic periodic paralysis	http://purl.obolibrary.org/obo/MONDO_0019201	UMLS:C0268446|https://omim.org/phenotypicSeries/PS188580|Orphanet:79102|http://identifiers.org/snomedct/30967002	gard_rare|ordo_disease
MONDO:0019200	biolink:Disease	retinitis pigmentosa	Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.	OMIM:604232|GARD:0005694|DOID:10584|SCTID:28835009|OMIM:604393|UMLS:C0035334|MedDRA:10038914|Orphanet:791|NCIT:C85045|OMIM:612712|ICD10CM:H35.5|OMIMPS:268000|UMLS:C4072872|OMIM:268000|MESH:D012174|OMIM:613341	mondo.json	pericentral pigmentary retinopathy|retinitis pigmentosa|Rod-cone dystrophy	http://purl.obolibrary.org/obo/MONDO_0019200	DOID:10584|http://identifiers.org/snomedct/28835009|https://omim.org/entry/268000|https://omim.org/phenotypicSeries/PS268000|http://identifiers.org/mesh/D012174|Orphanet:791|NCIT:C85045|UMLS:C0035334|UMLS:C4072872	clingen|prototype_pattern|ordo_disease
MONDO:0007209	biolink:Disease	Weismann-Netter syndrome	Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.	OMIM:112350|SCTID:715532007|Orphanet:3344|GARD:0005232|MESH:C537082|UMLS:C1862172	mondo.json	Toxopachyosteose Diaphysaire Tibio-Peroniere|bowing of legs, anterior, with dwarfism|bowing of legs, anterior with dwarfism|Weismann Netter syndrome|anterior bowing of legs with dwarfism|WEISMANN-NETTER syndrome|Weismann-Netter syndrome|WNS|Weismann-Netter-Stuhl syndrome	http://purl.obolibrary.org/obo/MONDO_0007209	https://omim.org/entry/112350|Orphanet:3344|UMLS:C1862172|http://identifiers.org/mesh/C537082|http://identifiers.org/snomedct/715532007	ordo_malformation_syndrome
HGNC:20772	biolink:NamedThing	TUBB3			mondo.json		http://identifiers.org/hgnc/20772		
FOODON:03401270	biolink:NamedThing	U.S. code of federal regulations, title 21 food product type	Food and Drugs, title 21, Code of Federal Regulations. Original food classification in LanguaL.	http://www.langual.org/langual_thesaurus.asp?termid=A1270	mondo.json		http://purl.obolibrary.org/obo/FOODON_03401270		
HP:0100786	biolink:PhenotypicFeature	Hypersomnia		UMLS:C0917799|SNOMEDCT_US:77692006|MSH:D006970	mondo.json	Excessive sleepiness	http://purl.obolibrary.org/obo/HP_0100786		
HGNC:20773	biolink:NamedThing	TUBB8			mondo.json		http://identifiers.org/hgnc/20773		
MONDO:0007207	biolink:Disease	Böök syndrome	Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.	SCTID:722296002|UMLS:C0457014|GARD:0000932|OMIM:112300|MESH:C562993|Orphanet:1262	mondo.json	Böök syndrome|PHC syndrome|premolar aplasia, hyperhidrosis, and canities prematura|book syndrome	http://purl.obolibrary.org/obo/MONDO_0007207	UMLS:C0457014|http://identifiers.org/snomedct/722296002|http://identifiers.org/mesh/C562993|https://omim.org/entry/112300|Orphanet:1262	ordo_malformation_syndrome
MONDO:0007208	biolink:Disease	Boomerang dysplasia	Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.	OMIM:112310|ICD9:756.9|MESH:C536573|DOID:0050680|GARD:0000933|UMLS:C0432201|Orphanet:1263|SCTID:254054000	mondo.json	Boomerang-like skeletal dysplasia|dwarfism with short, bowed, rigid limbs and characteristic facies|Boomerang dysplasia	http://purl.obolibrary.org/obo/MONDO_0007208	DOID:0050680|http://identifiers.org/mesh/C536573|UMLS:C0432201|http://identifiers.org/snomedct/254054000|https://omim.org/entry/112310|Orphanet:1263	gard_rare|ordo_disease
MONDO:0009869	biolink:Disease	isolated Pierre-Robin syndrome	Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft.	OMIM:261800|MESH:D010855|GARD:0004354|NCIT:C85010|SCTID:4602007|Orphanet:718|GARD:0004347	mondo.json	glossoptosis, micrognathia, and cleft palate|isolated Pierre Robin syndrome|Pierre-Robin syndrome|syndrome, Pierre-Robin|Pierre Robin syndrome skeletal dysplasia polydactyly|syndrome, Pierre Robin|sequence, Pierre Robin|isolated Pierre-Robin syndrome|Robin sequence|Pierre Robin syndrome|sequence, Robin|sequence, Pierre Robin's|Robin syndrome, Pierre|Pierre Robin sequence|Pierre Robin's sequence|PRBNS|isolated Pierre Robin sequence|Pierre Robins sequence	http://purl.obolibrary.org/obo/MONDO_0009869	NCIT:C85010|http://identifiers.org/snomedct/4602007|http://identifiers.org/mesh/D010855|https://omim.org/entry/261800|Orphanet:718	gard_rare|ordo_malformation_syndrome
MONDO:0022841	biolink:Disease	congenital hypotrichosis milia		GARD:0001488	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022841		gard_rare
MONDO:0009868	biolink:Disease	glycogen storage disease IXb	Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency.	MESH:C563008|Orphanet:79240|OMIM:261750|DOID:0111041|UMLS:C0543514	mondo.json	glycogenosis type IXb|glycogen storage disease IXb|PHKB-related glycogen storage disease type IX|glycogen storage disease due to liver and muscle phosphorylase kinase deficiency|glycogenosis type 9B|PHKB glycogen storage disease|glycogenosis due to liver and muscle phosphorylase kinase deficiency|glycogen storage disease type IXb|GSD9B|GSD type 9B|glycogenosis of liver and muscle, autosomal recessive|glycogen storage disease type 9B|GSD IXb|glycogen storage disease caused by mutation in PHKB|phosphorylase kinase deficiency of liver and muscle, autosomal recessive|GSD type IXb|GSD due to liver and muscle phosphorylase kinase deficiency	http://purl.obolibrary.org/obo/MONDO_0009868	http://identifiers.org/mesh/C563008|https://omim.org/entry/261750|UMLS:C0543514|DOID:0111041|Orphanet:79240	ordo_disease
MONDO:0007205	biolink:Disease	diaphyseal medullary stenosis-bone malignancy syndrome	Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).	OMIM:112250|GARD:0010072|UMLS:C1862177|NCIT:C122660|Orphanet:85182	mondo.json	Hardcastle's syndrome|bone dysplasia-medullary fibrosarcoma syndrome|myopathy, limb-girdle, with bone fragility|DMSMFH|diaphyseal medullary stenosis with malignant fibrous histiocytoma|DMS-MFH|Hardcastle syndrome|bone dysplasia with medullary fibrosarcoma|bone dysplasia with malignant fibrous histiocytoma|diaphyseal medullary stenosis-bone malignancy syndrome|BDMF|diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome	http://purl.obolibrary.org/obo/MONDO_0007205	https://omim.org/entry/112250|UMLS:C1862177|NCIT:C122660|Orphanet:85182	ordo_disease
MONDO:0022843	biolink:Disease	congenital mumps		GARD:0001498	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022843		gard_rare
MONDO:0009867	biolink:Disease	lethal congenital glycogen storage disease of heart	Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene.	OMIM:261740|UMLS:C1849813|GARD:0010728|ICD10EXP:E74.0+|MESH:C564888|DOID:0090101|ICD10EXP:G73.6*|Orphanet:439854	mondo.json	fatal congenital hypertrophic cardiomyopathy due to glycogenosis|fatal congenital nonlysosomal cardiac glycogenosis|glycogen storage disease of heart|glycogen storage disease caused by mutation in PRKAG2|phosphorylase kinase deficiency of heart|glycogen storage disease of heart, lethal congenital|fatal congenital hypertrophic cardiomyopathy due to GSD|PRKAG2 glycogen storage disease|fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease	http://purl.obolibrary.org/obo/MONDO_0009867	http://identifiers.org/mesh/C564888|UMLS:C1849813|https://omim.org/entry/261740|Orphanet:439854|DOID:0090101	ordo_disease
MONDO:0007206	biolink:Disease	bone pain, periodic		OMIM:112270	mondo.json	bone pain, periodic	http://purl.obolibrary.org/obo/MONDO_0007206	https://omim.org/entry/112270	
MONDO:0007203	biolink:Disease	blue rubber bleb nevus	Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.	GARD:0005940|Orphanet:1059|UMLS:C0346072|MESH:C536240|OMIM:112200|NCIT:C4486|SCTID:254784002	mondo.json	BRBN|blue rubber bleb nevus|bean syndrome|blue rubber bleb nevus syndrome|BRBNS	http://purl.obolibrary.org/obo/MONDO_0007203	NCIT:C4486|https://omim.org/entry/112200|UMLS:C0346072|Orphanet:1059|http://identifiers.org/mesh/C536240|http://identifiers.org/snomedct/254784002	ordo_malformation_syndrome
MONDO:0009866	biolink:Disease	phosphoenolpyruvate carboxykinase deficiency, cytosolic	PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2).	GARD:0004278|OMIM:261680|Orphanet:79316	mondo.json	phosphopyruvate carboxylase deficiency|PCK1 deficiency, cytosolic|phosphoenolpyruvate carboxykinase deficiency|PEPCK1 deficiency|PEP carboxykinase deficiency|PCKDC|phosphoenolpyruvate carboxykinase deficiency, cytosolic|PEPCK deficiency, cytosolic|phosphoenolpyruvate carboxylase deficiency|PEPCK 1 deficiency|phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency	http://purl.obolibrary.org/obo/MONDO_0009866	https://omim.org/entry/261680	gard_rare
MONDO:0010855	biolink:Disease	short tarsus-absence of lower eyelashes syndrome	Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	OMIM:600269|GARD:0000296|Orphanet:2832|UMLS:C1838328|MESH:C537036|SCTID:721075001	mondo.json	Lopes-Gorlin syndrome|Lopes Gorlin syndrome|short tarsus absence of lower eyelashes|short tarsus with absence of LOWER eyelashes|stale	http://purl.obolibrary.org/obo/MONDO_0010855	http://identifiers.org/snomedct/721075001|http://identifiers.org/mesh/C537036|Orphanet:2832|UMLS:C1838328|https://omim.org/entry/600269	ordo_malformation_syndrome
MONDO:0009865	biolink:Disease	glycogen storage disease due to phosphoglycerate mutase deficiency	A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy.	GARD:0009964|MESH:C536176|OMIM:261670|SCTID:61772003|Orphanet:97234|NCIT:C131647	mondo.json	glycogen storage disease 10|GSD 10|myopathy due to Phosphoglycerate mutase deficiency|Phosphoglycerate mutase deficiency|glycogen storage disease type 10|myopathy due to phosphoglycerate mutase deficiency|GSDX|PGAM2 glycogen storage disease|glycogenosis due to phosphoglycerate mutase deficiency|PGAM deficiency|GSD10|PGAMM deficiency|GSD due to phosphoglycerate mutase deficiency|glycogen storage disease caused by mutation in PGAM2|GSD type 10|Phosphoglycerate mutase, muscle, deficiency of|glycogen storage disease X|muscle phosphoglycerate mutase deficiency	http://purl.obolibrary.org/obo/MONDO_0009865	http://identifiers.org/snomedct/61772003|https://omim.org/entry/261670|Orphanet:97234|http://identifiers.org/mesh/C536176|NCIT:C131647	ordo_disease
MONDO:0007204	biolink:Disease	Cole-Carpenter syndrome 1	Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene.	UMLS:C4317154|UMLS:CN029402|OMIM:112240	mondo.json	Cole-Carpenter syndrome caused by mutation in P4HB|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features|COLE-CARPENTER syndrome 1|P4HB Cole-Carpenter syndrome|Cole-Carpenter syndrome 1|CLCRP1|Cole-Carpenter syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0007204	https://omim.org/entry/112240|UMLS:CN029402|UMLS:C4317154	
MONDO:0010854	biolink:Disease	Toriello-Lacassie-Droste syndrome	Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.	DOID:0111705|GARD:0010366|OMIM:600268|Orphanet:3339|MESH:C563969|SCTID:723554006|UMLS:C1838329	mondo.json	oculoectodermal syndrome|oculo-ectodermal syndrome|oes|oculoectodermal syndrome, somatic|aplasia cutis congenita-epibulbar dermoids syndrome|aplasia cutis congenita with epibulbar dermoids|Toriello Lacassie Droste syndrome	http://purl.obolibrary.org/obo/MONDO_0010854	Orphanet:3339|UMLS:C1838329|DOID:0111705|http://identifiers.org/mesh/C563969|https://omim.org/entry/600268|http://identifiers.org/snomedct/723554006	ordo_malformation_syndrome
HGNC:29105	biolink:NamedThing	PLEKHG5			mondo.json		http://identifiers.org/hgnc/29105		
MONDO:0009864	biolink:Disease	phosphoenolpyruvate carboxykinase deficiency, mitochondrial		OMIM:261650|Orphanet:79317|UMLS:C1849821|GARD:0004279|MESH:C564890	mondo.json	PEPCK2 deficiency|PEPCK2|PEPCK deficiency, mitochondrial|phosphoenolpyruvate carboxykinase 2 deficiency|PCKDM|phosphoenolpyruvate carboxykinase deficiency, mitochondrial|PCK2 deficiency|PEPCK 2 deficiency	http://purl.obolibrary.org/obo/MONDO_0009864	http://identifiers.org/mesh/C564890|UMLS:C1849821|https://omim.org/entry/261650	
MONDO:0007201	biolink:Disease	blepharophimosis, ptosis, and epicanthus inversus syndrome	Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II).	MESH:C562419|DOID:14778|OMIM:110100|Orphanet:126|SCTID:715391004|GARD:0000023|UMLS:C0220663	mondo.json	blepharophimosis, ptosis, and epicanthus inversus syndrome type 1|blepharophimosis, ptosis, and epicanthus inversus syndrome|blepharophimosis syndrome type 1|BPES type 1|blepharophimosis, ptosis, epicanthus inversus with ovarian failure|BPES with premature ovarian failure|blepharophimosis types 1 and 2|BPES with ovarian failure|blepharophimosis, epicanthus inversus, and ptosis, type 2|BPES|blepharophimosis, epicanthus inversus, and ptosis, type 1|blepharophimosis, ptosis, and epicanthus inversus|blepharophimosis-epicanthus inversus-ptosis syndrome|BPES without ovarian failure|BPES, type 2|BPES, type 1|BPES with Duane retraction syndrome|blepharophimosis, ptosis, epicanthus inversus syndrome|BPES, type I, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0007201	http://identifiers.org/mesh/C562419|UMLS:C0220663|https://omim.org/entry/110100|Orphanet:126|http://identifiers.org/snomedct/715391004|DOID:14778	gard_rare|ordo_malformation_syndrome
RO:0002310	biolink:NamedThing	exposure event or process	A process occurring within or in the vicinity of an organism that exerts some causal influence on the organism via the interaction between an exposure stimulus and an exposure receptor. The exposure stimulus may be a process, material entity or condition (for example, lack of nutrients). The exposure receptor can be an organism, organism population or a part of an organism.		mondo.json		http://purl.obolibrary.org/obo/RO_0002310		
MONDO:0010857	biolink:Disease	semantic dementia	Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.	OMIM:600274|UMLS:C1862937|Orphanet:100069|GARD:0010792	mondo.json	frontotemporal lobar Degeneration with Tau inclusions|Wilhelmsen-Lynch disease|frontotemporal dementia with Parkinsonism|frontotemporal dementia|frontotemporal lobe dementia|disinhibition-dementia-Parkinsonism-amyotrophy Complex|semantic primary progressive aphasia|multiple system tauopathy with presenile dementia|dementia, frontotemporal, with Parkinsonism|Pallidopontonigral Degeneration|Pick Complex|dementia, frontotemporal|Ftdp17|dementia, frontotemporal, with or without parkinsonism|Ftld with Tau inclusions|semantic variant PPA|FTD	http://purl.obolibrary.org/obo/MONDO_0010857	https://omim.org/entry/600274|Orphanet:100069	ordo_disease
HGNC:29106	biolink:NamedThing	DDHD2			mondo.json		http://identifiers.org/hgnc/29106		
MONDO:0009863	biolink:Disease	BH4-deficient hyperphenylalaninemia A	An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits.	UMLS:C0878676|MESH:C535325|NCIT:C138171|GARD:0005682|DOID:0090106|GARD:5682|Orphanet:13|OMIM:261640|SCTID:237914002	mondo.json	hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency|6-pyruvoyl tetrahydropterin synthase deficiency|6-pyruvoyl-tetrahydropterin synthase deficiency|Bh4-deficient hyperphenylalaninemia type A|hyperphenylalaninemia, BH4-deficient, type A|hyperphenylalaninemia, Bh4-deficient, type a|hyperphenylalanemia, BH4-deficient, A|hyperphenylalaninemia, BH4-deficient A|HPABH4A|tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency|BH4-deficient hyperphenylalaninemia A|PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included|PTS deficiency|hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency|hyperphenylalaninemia, BH4-deficient, A|hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency|hyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiency	http://purl.obolibrary.org/obo/MONDO_0009863	UMLS:C0878676|Orphanet:13|http://identifiers.org/snomedct/237914002|https://omim.org/entry/261640|http://identifiers.org/mesh/C535325|DOID:0090106|NCIT:C138171	ordo_clinical_subtype
MONDO:0010856	biolink:Disease	autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).	UMLS:C1838327|Orphanet:88924|MESH:C536328|GARD:0009481|OMIM:600273|SCTID:765331004	mondo.json	polycystic kidneys, severe infantile with tuberous sclerosis|chromosome 16P13.3 deletion syndrome, distal|polycystic kidney disease, infantile severe, with tuberous sclerosis|tuberous sclerosis/polycystic kidney disease contiguous gene syndrome|tuberous sclerosis polycystic kidney disease contiguous gene syndrome|PKDTS	http://purl.obolibrary.org/obo/MONDO_0010856	http://identifiers.org/snomedct/765331004|Orphanet:88924|http://identifiers.org/mesh/C536328|UMLS:C1838327|https://omim.org/entry/600273	ordo_disease
MONDO:0007202	biolink:Disease	blepharoptosis-myopia-ectopia lentis syndrome	This syndrome is characterised by bilateral congenital blepharoptosis, ectopia lentis and high myopia.	UMLS:C1862259|GARD:0000912|SCTID:717915004|OMIM:110150|Orphanet:1259|MESH:C536236	mondo.json	blepharoptosis, myopia, and ectopia lentis|blepharoptosis myopia ectopia lentis|dominantly inherited blepharoptosis, high myopia, and ectopia lentis	http://purl.obolibrary.org/obo/MONDO_0007202	http://identifiers.org/snomedct/717915004|UMLS:C1862259|https://omim.org/entry/110150|Orphanet:1259|http://identifiers.org/mesh/C536236	ordo_disease
MONDO:0009862	biolink:Disease	dihydropteridine reductase deficiency	Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.	NCIT:C138173|OMIM:261630|SCTID:58256000|GARD:0004319|Orphanet:226	mondo.json	hyperphenylalaninemia, Bh4-deficient, type C|6,7-dihydropteridine reductase activity disease|hyperphenylalaninemia, BH4-deficient, C|dihydropteridine reductase deficiency|hyperphenylalaninemia, BH4-deficient C|Qdpr deficiency|quinoid dihydropteridine reductase deficiency|DHPR deficiency|phenylketonuria type 2|PKU type 2|hyperphenylalaninemia, BH-4-deficient, C|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to DHPR deficiency|disorder of 6,7-dihydropteridine reductase activity|HPABH4C|hyperphenylalaninemia due to dihydropteridine reductase deficiency	http://purl.obolibrary.org/obo/MONDO_0009862	http://identifiers.org/snomedct/58256000|https://omim.org/entry/261630|Orphanet:226|NCIT:C138173	ordo_clinical_subtype|gard_rare
MONDO:0010859	biolink:Disease	atrioventricular septal defect 3	Any atrioventricular septal defect in which the cause of the disease is a mutation in the GJA1 gene.	OMIM:600309|UMLS:C3275750	mondo.json	GJA1 atrioventricular septal defect|atrioventricular septal defect caused by mutation in GJA1|AVSD3|atrioventricular septal defect 3|atrioventricular septal defect type 3	http://purl.obolibrary.org/obo/MONDO_0010859	https://omim.org/entry/600309|UMLS:C3275750	
MONDO:0009861	biolink:Disease	phenylketonuria	Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.	MESH:D010661|SCTID:7573000|NCIT:C81315|UMLS:C0031485|GARD:0007383|Orphanet:716|MedDRA:10034872|DOID:9281|ICD9:270.1|OMIM:261600	mondo.json	PKU|phenylketonuria, maternal|oligophrenia Phenylpyruvica|PAH deficiency|oligophrenia phenylpyruvica|phenylketonuria|hyperphenylalaninemia, non-PKU mild|imbecilitus phenylpyruvica|HPA, non-PKU mild|phenylpyruvic oligophrenia|phenylalanine hydroxylase deficiency|phenylalaninemia	http://purl.obolibrary.org/obo/MONDO_0009861	DOID:9281|https://omim.org/entry/261600|UMLS:C0031485|NCIT:C81315|Orphanet:716|http://identifiers.org/snomedct/7573000|http://identifiers.org/mesh/D010661	clingen|ordo_disease
MONDO:0010858	biolink:Disease	macrocephaly-spastic paraplegia-dysmorphism syndrome	Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.	SCTID:716108004|MESH:C563963|OMIM:600302|Orphanet:2429|UMLS:C1838281	mondo.json	macrocephaly with spastic paraplegia and distinctive craniofacial appearance|Fryns macrocephaly	http://purl.obolibrary.org/obo/MONDO_0010858	http://identifiers.org/snomedct/716108004|Orphanet:2429|UMLS:C1838281|http://identifiers.org/mesh/C563963|https://omim.org/entry/600302	ordo_malformation_syndrome
MONDO:0007200	biolink:Disease	blepharonasofacial malformation syndrome	Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.	UMLS:C0796197|Orphanet:1252|SCTID:717913006|GARD:0004238|MESH:C536303|OMIM:110050	mondo.json	Pashayan syndrome|blepharonasofacial malformation syndrome|Pashayan-Prozansky syndrome	http://purl.obolibrary.org/obo/MONDO_0007200	UMLS:C0796197|https://omim.org/entry/110050|Orphanet:1252|http://identifiers.org/snomedct/717913006|http://identifiers.org/mesh/C536303	gard_rare|ordo_malformation_syndrome
HGNC:29101	biolink:NamedThing	ANKLE2			mondo.json		http://identifiers.org/hgnc/29101		
MONDO:0009860	biolink:Disease	phenformin 4-hydroxylation		OMIM:261590	mondo.json	phenformin 4-hydroxylation	http://purl.obolibrary.org/obo/MONDO_0009860	https://omim.org/entry/261590	
UBERON:0004088	biolink:AnatomicalEntity	orbital region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004088		
RO:0002305	biolink:NamedThing	causally upstream of, negative effect			mondo.json		http://purl.obolibrary.org/obo/RO_0002305		
UBERON:0004089	biolink:AnatomicalEntity	midface			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004089		
MONDO:0010860	biolink:Disease	autosomal recessive nonsyndromic hearing loss 3	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene.	MESH:C563961|DOID:0110488|UMLS:C1838263|OMIM:600316	mondo.json	deafness, autosomal recessive type 3|neurosensory nonsyndromic recessive deafness 3|NRSD3|autosomal recessive nonsyndromic deafness 3|autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3|autosomal recessive nonsyndromic deafness caused by mutation in MYO15A|DFNB3|MYO15A autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 3|deafness, autosomal recessive 3	http://purl.obolibrary.org/obo/MONDO_0010860	UMLS:C1838263|DOID:0110488|http://identifiers.org/mesh/C563961|https://omim.org/entry/600316	
UBERON:0004086	biolink:AnatomicalEntity	brain ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004086		
UBERON:0004087	biolink:AnatomicalEntity	vena cava			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004087		
MONDO:0010862	biolink:Disease	type 1 diabetes mellitus 4	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 11q13.	UMLS:C1838261|DOID:0110743|MESH:C563959|OMIM:600319	mondo.json	diabetes mellitus, insulin-dependent, 4|insulin-dependent diabetes mellitus 4|IDDM4	http://purl.obolibrary.org/obo/MONDO_0010862	UMLS:C1838261|DOID:0110743|http://identifiers.org/mesh/C563959|https://omim.org/entry/600319	
GO:0042303	biolink:NamedThing	molting cycle	The periodic casting off and regeneration of an outer covering of cuticle, feathers, hair, horns, skin, etc.		mondo.json		http://purl.obolibrary.org/obo/GO_0042303		
UBERON:0004084	biolink:AnatomicalEntity	genital labium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004084		
MONDO:0010861	biolink:Disease	type 1 diabetes mellitus 3	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 15q26.	MESH:C563960|DOID:0110742|OMIM:600318|UMLS:C1838262	mondo.json	diabetes mellitus, insulin-dependent, 3|insulin-dependent diabetes mellitus 3|IDDM3	http://purl.obolibrary.org/obo/MONDO_0010861	UMLS:C1838262|DOID:0110742|http://identifiers.org/mesh/C563960|https://omim.org/entry/600318	
UBERON:0004085	biolink:AnatomicalEntity	labium majora			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004085		
HGNC:17129	biolink:NamedThing	SLC39A4			mondo.json		http://identifiers.org/hgnc/17129		
MONDO:0010864	biolink:Disease	type 1 diabetes mellitus 7	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q31.	OMIM:600321|DOID:0110746|MESH:C563957|UMLS:C1838259	mondo.json	insulin-dependent diabetes mellitus 7|diabetes mellitus, insulin-dependent, 7|IDDM7	http://purl.obolibrary.org/obo/MONDO_0010864	UMLS:C1838259|DOID:0110746|http://identifiers.org/mesh/C563957|https://omim.org/entry/600321	
RO:0002303	biolink:NamedThing	has habitat	x 'has habitat' y if and only if: x is an organism, y is a habitat, and y can sustain and allow the growth of a population of xs.		mondo.json		http://purl.obolibrary.org/obo/RO_0002303		
GO:0042304	biolink:NamedThing	regulation of fatty acid biosynthetic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils.		mondo.json	regulation of fatty acid synthesis|regulation of fatty acid formation|regulation of fatty acid anabolism|regulation of fatty acid biosynthesis	http://purl.obolibrary.org/obo/GO_0042304		
MONDO:0010863	biolink:Disease	type 1 diabetes mellitus 5	Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the SUMO4 gene.	OMIM:600320|UMLS:C1838260|DOID:0110744|MESH:C563958	mondo.json	IDDM5|type 1 diabetes mellitus caused by mutation in SUMO4|diabetes mellitus, insulin-dependent, type 5|diabetes mellitus, insulin-dependent, 5|insulin-dependent diabetes mellitus 5|SUMO4 type 1 diabetes mellitus	http://purl.obolibrary.org/obo/MONDO_0010863	UMLS:C1838260|DOID:0110744|http://identifiers.org/mesh/C563958|https://omim.org/entry/600320	
RO:0002304	biolink:NamedThing	causally upstream of, positive effect			mondo.json		http://purl.obolibrary.org/obo/RO_0002304		
RO:0002309	biolink:NamedThing	has exposure stimulus	A relationship between an exposure event or process and any agent, stimulus, activity, or event that causally effects an organism and interacts with an exposure receptor during an exposure event.		mondo.json		http://purl.obolibrary.org/obo/RO_0002309		
HGNC:30100	biolink:NamedThing	PSENEN			mondo.json		http://identifiers.org/hgnc/30100		
MONDO:0034872	biolink:Disease	large granular lymphocyte leukemia		Orphanet:512034	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034872	Orphanet:512034	ordo_group_of_disorders
MONDO:0022839	biolink:Disease	congenital human immunodeficiency virus		OMIM:609423|GARD:0010328|UMLS:C0520783	mondo.json	congenital HIV|neonatal HIV|neonatal human immunodeficiency virus	http://purl.obolibrary.org/obo/MONDO_0022839	UMLS:C0520783	gard_rare
HP:0100799	biolink:PhenotypicFeature	Neoplasm of the middle ear	A tumor (abnormal growth of tissue) of the middle ear.	UMLS:C0345617|SNOMEDCT_US:127006003|NCIT:C3262	mondo.json	Neoplasia of the middle ear|Middle ear tumour|Middle ear tumor	http://purl.obolibrary.org/obo/HP_0100799		
MONDO:0007218	biolink:Disease	brachydactyly type A4	Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit.	GARD:0000990|OMIM:112800|SCTID:715721005|MESH:C537097|DOID:0110967|Orphanet:93394	mondo.json	Temtamy type brachydactyly|brachydactyly Temtamy type|brachydactyly, type A4|Brachymesophalangy 2 and 5|BDA4|Brachymesophalangy II and V|brachymesophalangy II and V|brachydactyly, Temtamy type	http://purl.obolibrary.org/obo/MONDO_0007218	DOID:0110967|Orphanet:93394|http://identifiers.org/snomedct/715721005|https://omim.org/entry/112800|http://identifiers.org/mesh/C537097	gard_rare|ordo_malformation_syndrome
MONDO:0007219	biolink:Disease	Osebold-Remondini syndrome	A brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.	OMIM:112910|Orphanet:93382|SCTID:715722003|MESH:C537092|UMLS:C1862130|DOID:0110968|GARD:0000983	mondo.json	brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities|BDA6|brachydactyly, type A6|brachydactyly type A6|Osebold-Remondini syndrome|Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities|OSEBOLD-Remondini syndrome	http://purl.obolibrary.org/obo/MONDO_0007219	DOID:0110968|http://identifiers.org/snomedct/715722003|Orphanet:93382|UMLS:C1862130|https://omim.org/entry/112910|http://identifiers.org/mesh/C537092	ordo_malformation_syndrome|gard_rare
MONDO:0007216	biolink:Disease	brachydactyly type A2	Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.	MESH:C537089|OMIM:112600|GARD:0000979|GARD:0000989|Orphanet:93396|SCTID:720569006|DOID:0110965	mondo.json	Brachymesophalangy 2|Mohr-Wriedt type brachydactyly|brachydactyly, Mohr-Wriedt type|brachydactyly, type A2|brachymesophalangy II|Brachymesophalangy type 2|BDA2	http://purl.obolibrary.org/obo/MONDO_0007216	DOID:0110965|Orphanet:93396|https://omim.org/entry/112600|http://identifiers.org/mesh/C537089|http://identifiers.org/snomedct/720569006	gard_rare|ordo_malformation_syndrome
MONDO:0022831	biolink:Disease	congenital heart disease ptosis hypodontia craniostosis		GARD:0001483	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022831		gard_rare
MONDO:0009879	biolink:Disease	short stature due to growth hormone qualitative anomaly	Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.	Orphanet:629|GARD:0000408|OMIM:262650|MESH:C537505|UMLS:C1849779	mondo.json	pituitary dwarfism with normal immunoreactive Growth hormone and Low Somatomedin|KOWARSKI syndrome|Biodefective Growth hormone|Kowarski syndrome	http://purl.obolibrary.org/obo/MONDO_0009879	UMLS:C1849779|https://omim.org/entry/262650|http://identifiers.org/mesh/C537505|Orphanet:629	ordo_clinical_subtype
MONDO:0009878	biolink:Disease	pituitary hormone deficiency, combined, 2	Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene.	OMIM:262600|MESH:C563172|UMLS:C0878683	mondo.json	CPHD2|PROP1 combined pituitary hormone deficiencies, genetic form|ateliotic dwarfism with hypogonadism|pituitary hormone deficiency, combined, type 2|combined pituitary hormone deficiencies, genetic form caused by mutation in PROP1|pituitary hormone deficiency, combined, 2|Hanhart dwarfism|pituitary dwarfism 3|panhypopituitarism	http://purl.obolibrary.org/obo/MONDO_0009878	UMLS:C0878683|https://omim.org/entry/262600|http://identifiers.org/mesh/C563172	
MONDO:0007217	biolink:Disease	brachydactyly type A3		UMLS:C1862140|Orphanet:93393|OMIM:112700|GARD:0000963|DOID:0110966|MESH:C537090	mondo.json	brachydactyly, type A3|BDA3|brachymesophalangy V|brachydactyly-clinodactyly|Brachymesophalangy 5	http://purl.obolibrary.org/obo/MONDO_0007217	DOID:0110966|Orphanet:93393|UMLS:C1862140|https://omim.org/entry/112700|http://identifiers.org/mesh/C537090	gard_rare
MONDO:0022832	biolink:Disease	congenital heart disease radio ulnar synostosis intellectual disability		GARD:0001484	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022832		gard_rare
HGNC:20788	biolink:NamedThing	RHBDF2			mondo.json		http://identifiers.org/hgnc/20788		
HP:0100790	biolink:PhenotypicFeature	Hernia		MSH:D006547|UMLS:C0019270|SNOMEDCT_US:52515009|SNOMEDCT_US:414403008	mondo.json	Hernias	http://purl.obolibrary.org/obo/HP_0100790		
MONDO:0009877	biolink:Disease	Laron syndrome	Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.	DOID:9521|NCIT:C130994|MESH:D046150|OMIM:262500|GARD:0006859|Orphanet:633|SCTID:38196001	mondo.json	Laron dwarfism|growth hormone insensitivity syndrome|primary GH resistance|primary GH insensitivity|Laron syndrome|pituitary dwarfism II|Laron-type dwarfism|short stature due to growth hormone resistance|Laron-type isolated somatotropin defect|primary growth hormone insensitivity|Growth hormone receptor deficiency|primary growth hormone resistance|pituitary dwarfism 2|Laron type pituitary dwarfism I|GH receptor deficiency|complete growth hormone insensitivity	http://purl.obolibrary.org/obo/MONDO_0009877	http://identifiers.org/mesh/D046150|NCIT:C130994|DOID:9521|https://omim.org/entry/262500|http://identifiers.org/snomedct/38196001|Orphanet:633	ordo_disease
MONDO:0007214	biolink:Disease	brachydactyly-preaxial hallux varus syndrome	Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits.	DOID:0110962|UMLS:C1862162|MESH:C537087|GARD:0000972|Orphanet:1278|OMIM:112450	mondo.json	brachydactyly preaxial with hallux varus and thumb abduction|Christian brachydactyly|dominant preaxial brachydactyly with hallux varus and thumb abduction|brachydactyly, preaxial, with hallux varus and thumb abduction|preaxial brachydactyly with hallux varus and thumb abduction	http://purl.obolibrary.org/obo/MONDO_0007214	DOID:0110962|https://omim.org/entry/112450|UMLS:C1862162|http://identifiers.org/mesh/C537087|Orphanet:1278	ordo_malformation_syndrome
MONDO:0044203	biolink:Disease	foveal hypoplasia	Underdevelopment of the fovea centralis.	OMIMPS:136520	mondo.json	FVH	http://purl.obolibrary.org/obo/MONDO_0044203	https://omim.org/phenotypicSeries/PS136520	
MONDO:0010844	biolink:Disease	epiphyseal dysplasia, multiple, 2	Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene.	UMLS:C1838429|GARD:0009791|OMIM:600204|MESH:C535502|DOID:0070298	mondo.json	epiphyseal dysplasia, multiple, type 2|COL9A2 multiple epiphyseal dysplasia (disease)|epiphyseal dysplasia multiple 2|EDM2|multiple epiphyseal dysplasia 2|epiphyseal dysplasia, multiple, 2|multiple epiphyseal dysplasia (disease) caused by mutation in COL9A2	http://purl.obolibrary.org/obo/MONDO_0010844	DOID:0070298|UMLS:C1838429|http://identifiers.org/mesh/C535502|https://omim.org/entry/600204	gard_rare
GO:0042310	biolink:NamedThing	vasoconstriction	A decrease in the diameter of blood vessels, especially arteries, due to constriction of smooth muscle cells that line the vessels, and usually causing an increase in blood pressure.		mondo.json	negative regulation of blood vessel size	http://purl.obolibrary.org/obo/GO_0042310		
MONDO:0007215	biolink:Disease	brachydactyly type A1	Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.	SCTID:715720006|UMLS:C1862151|Orphanet:93388|MESH:C537088|GARD:0000978|OMIM:112500|DOID:0110964	mondo.json	brachydactyly, type A1|brachydactyly, Farabee type|Farabee type brachydactyly|Farabee-type brachydactyly|brachydactyly Farabee type|BDA1	http://purl.obolibrary.org/obo/MONDO_0007215	DOID:0110964|Orphanet:93388|http://identifiers.org/snomedct/715720006|https://omim.org/entry/112500|UMLS:C1862151|http://identifiers.org/mesh/C537088	gard_rare|ordo_malformation_syndrome
MONDO:0009876	biolink:Disease	isolated growth hormone deficiency type IA	An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3.	GARD:0007399|ICD9:259.4|OMIM:262400|SCTID:237837007|DOID:0060873|MESH:C537404|Orphanet:231662	mondo.json	Growth hormone deficiency, isolated autosomal recessive|isolated Growth hormone deficiency, type 1A|IGHD IA|Illig-type growth hormone deficiency|isolated growth hormone deficiency type IA|congenital isolated GH deficiency type IA|non-acquired isolated growth hormone deficiency|pituitary dwarfism 1|growth hormone deficiency, isolated, type IA|congenital IGHD|IGHD 1A|autosomal recessive isolated growth hormone deficiency|pituitary dwarfism I|congenital isolated growth hormone deficiency|congenital IGHD type IA|sexual ateleiotic dwarfism|ILLIG type growth hormone deficiency|Growth hormone deficiency, isolated, autosomal recessive|congenital isolated growth hormone deficiency type IA|IGHD1A|Illig-type Growth hormone deficiency|congenital isolated GH deficiency|isolated growth hormone deficiency, type IA|isolated growth hormone deficiency type 1A|primordial dwarfism	http://purl.obolibrary.org/obo/MONDO_0009876	DOID:0060873|https://omim.org/entry/262400|Orphanet:231662|http://identifiers.org/mesh/C537404|http://identifiers.org/snomedct/237837007	ordo_clinical_subtype|gard_rare
MONDO:0010843	biolink:Disease	dyslexia, susceptibility to, 2		OMIM:600202	mondo.json	dyslexia, susceptibility to, 2|reading disability, specific, 2|DYX2	http://purl.obolibrary.org/obo/MONDO_0010843	https://omim.org/entry/600202	predisposition
MONDO:0044202	biolink:Disease	episodic kinesigenic dyskinesia	Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.	OMIMPS:128200|Orphanet:98809	mondo.json	EKD|familial PKD|familial paroxysmal kinesigenic dyskinesia|paroxysmal kinesigenic choreathetosis	http://purl.obolibrary.org/obo/MONDO_0044202	https://omim.org/phenotypicSeries/PS128200|Orphanet:98809	ordo_disease
GO:0140631	biolink:NamedThing	aldehyde dehydrogenase (NAD+) inhibitor activity	Binds to and stops, prevents or reduces the activity of aldehyde dehydrogenase (NAD+).		mondo.json		http://purl.obolibrary.org/obo/GO_0140631		
MONDO:0010846	biolink:Disease	exostoses, multiple, type III		UMLS:C1838420|OMIM:600209|MESH:C563975|GARD:0002206	mondo.json	exostoses, multiple, type 3|exostoses, multiple, type III|EXT3	http://purl.obolibrary.org/obo/MONDO_0010846	https://omim.org/entry/600209|http://identifiers.org/mesh/C563975|UMLS:C1838420	gard_rare
MONDO:0009875	biolink:Disease	achromatopsia 3	Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene.	UMLS:C1849792|GARD:0009650|DOID:0110008|OMIM:262300	mondo.json	ACHM3|ACHM1|rod monochromacy 1|CNGB3 achromatopsia|RMCH1 (formerly)|total colorblindness with myopia|Rod monochromatism 1 (formerly)|rod monochromatism 1|rod monochromatism 1, formerly|achromatopsia caused by mutation in CNGB3|achromatopsia type 3|achromatopsia 3|RMCH1|Rod monochromacy 1 (formerly)|achromatopsia with myopia|ACHM1 (formerly)|ACHM1, formerly|rod monochromacy 1, formerly	http://purl.obolibrary.org/obo/MONDO_0009875	UMLS:C1849792|https://omim.org/entry/262300|DOID:0110008	
MONDO:0044205	biolink:Disease	Shwachman-Diamond syndrome 2	Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({1:Stepensky et al., 2017}).nnFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM:260400).	OMIM:617941|UMLS:CN244554	mondo.json	SDS2|Shwachman-Diamond syndrome 2	http://purl.obolibrary.org/obo/MONDO_0044205	https://omim.org/entry/617941|UMLS:CN244554	
MONDO:0007212	biolink:Disease	brachydactyly-long thumb syndrome	Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981.	Orphanet:2946|GARD:0000968|SCTID:733454004|UMLS:C1862169|MESH:C566204|OMIM:112430	mondo.json	brachydactyly, long thumb type|long-thumb brachydactyly syndrome|brachydactyly, long-thumb type|brachydactyly long thumb type	http://purl.obolibrary.org/obo/MONDO_0007212	https://omim.org/entry/112430|UMLS:C1862169|http://identifiers.org/mesh/C566204|Orphanet:2946|http://identifiers.org/snomedct/733454004	gard_rare|ordo_malformation_syndrome
MONDO:0007213	biolink:Disease	Ballard syndrome	Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature.	GARD:0000959|Orphanet:93395|SCTID:722298001|MESH:C537094|OMIM:112440|UMLS:C1862163|DOID:0110963	mondo.json	Pitt Williams brachydactyly|Ballard type brachydactyly|brachydactyly, Ballard type|brachydactyly combined B and E types|brachydactyly types B and E combined|Pitt-Williams brachydactyly|brachydactyly Ballard type|brachydactyly, combined B and E types	http://purl.obolibrary.org/obo/MONDO_0007213	DOID:0110963|https://omim.org/entry/112440|UMLS:C1862163|http://identifiers.org/mesh/C537094|http://identifiers.org/snomedct/722298001	ordo_malformation_syndrome
MONDO:0009874	biolink:Disease	Rabson-Mendenhall syndrome	Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes).	NCIT:C131000|GARD:0000226|MESH:D056731|UMLS:C0271695|Orphanet:769|SCTID:33559001|OMIM:262190|ICD9:259.8	mondo.json	pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities|Rabson-Mendenhall syndrome|Mendenhall syndrome	http://purl.obolibrary.org/obo/MONDO_0009874	https://omim.org/entry/262190|UMLS:C0271695|Orphanet:769|NCIT:C131000|http://identifiers.org/snomedct/33559001	ordo_malformation_syndrome|gard_rare
MONDO:0044204	biolink:Disease	Shwachman-Diamond syndrome 1		OMIM:260400	mondo.json	pancreatic insufficiency and bone marrow dysfunction|lipomatosis of pancreas, congenital|Shwachman-Bodian syndrome|Shwachman-Diamond syndrome 1|SDS1|Shwachman-Diamond syndrome	http://purl.obolibrary.org/obo/MONDO_0044204	https://omim.org/entry/260400	
MONDO:0010845	biolink:Disease	obsolete macrothrombocytopenia and progressive sensorineural deafness			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010845		
MONDO:0010848	biolink:Disease	spinocerebellar ataxia type 5	Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.	Orphanet:98766|SCTID:719302009|OMIM:600224|GARD:0004953|UMLS:C0752123|DOID:0050882	mondo.json	spinocerebellar ataxia type 5|spinocerebellar ataxia 5|SCA5	http://purl.obolibrary.org/obo/MONDO_0010848	https://omim.org/entry/600224|http://identifiers.org/snomedct/719302009|UMLS:C0752123|Orphanet:98766|DOID:0050882	ordo_disease
MONDO:0007210	biolink:Disease	Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay		UMLS:C1862171|MESH:C566206|OMIM:112370	mondo.json	Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay	http://purl.obolibrary.org/obo/MONDO_0007210	https://omim.org/entry/112370|UMLS:C1862171|http://identifiers.org/mesh/C566206	
MONDO:0009873	biolink:Disease	pilodental dysplasia-refractive errors syndrome	Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.	UMLS:C1849805|Orphanet:2892|OMIM:262020|GARD:0000277|MESH:C535763	mondo.json	Euhidrotic ectodermal dysplasia|PILODENTAL dysplasia with refractive errors|Kopysc-Barczyk-Krol syndrome|Trichodental dysplasia with hyperopia	http://purl.obolibrary.org/obo/MONDO_0009873	Orphanet:2892|http://identifiers.org/mesh/C535763|https://omim.org/entry/262020|UMLS:C1849805	ordo_malformation_syndrome
MONDO:0007211	biolink:Disease	brachydactyly-arterial hypertension syndrome	Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.	DOID:0111247|GARD:0000967|Orphanet:1276|OMIM:112410|MESH:C537095|SCTID:720568003|UMLS:C1862170	mondo.json	brachydactyly type E, with short stature and hypertension|brachydactyly with hypertension|brachydactyly type E with short stature and hypertension|brachydactyly, type E, with short stature and hypertension|hypertension and brachydactyly syndrome|Bilginturan syndrome|HTNB|Bilginturan brachydactyly	http://purl.obolibrary.org/obo/MONDO_0007211	https://omim.org/entry/112410|UMLS:C1862170|Orphanet:1276|http://identifiers.org/mesh/C537095|DOID:0111247|http://identifiers.org/snomedct/720568003	ordo_malformation_syndrome
MONDO:0010847	biolink:Disease	spinocerebellar ataxia type 4	Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy.	Orphanet:98765|DOID:0050957|GARD:0009970|UMLS:C0752122|OMIM:600223|SCTID:715755008	mondo.json	spinocerebellar ataxia autosomal dominant with sensory axonal neuropathy|spinocerebellar ataxia 4|SCA4|spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy	http://purl.obolibrary.org/obo/MONDO_0010847	https://omim.org/entry/600223|UMLS:C0752122|http://identifiers.org/snomedct/715755008|Orphanet:98765|DOID:0050957	ordo_disease
MONDO:0009872	biolink:Disease	Bjornstad syndrome	Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome.	OMIM:262000|UMLS:C0266006|EFO:0002779|DOID:0050677|Orphanet:123|MESH:C537633|GARD:0000022	mondo.json	pili torti-sensorineural hearing loss|BJS|BJörnstad syndrome|PTND|deafness and pili torti, Bjornstad type|PTD|deafness-pili torti-hypogonadism syndrome|pili torti and nerve deafness|Bjornstad syndrome	http://purl.obolibrary.org/obo/MONDO_0009872	UMLS:C0266006|Orphanet:123|http://identifiers.org/mesh/C537633|DOID:0050677|https://omim.org/entry/262000	gard_rare|ordo_disease
MONDO:0009871	biolink:Disease	pili torti-developmental delay-neurological abnormalities syndrome	Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.	GARD:0004362|OMIM:261990|Orphanet:2891|UMLS:C1849811|MESH:C537398	mondo.json	pili torti developmental delay neurological abnormalities|pili torti and developmental delay|abnormal hair, joint laxity, and developmental delay	http://purl.obolibrary.org/obo/MONDO_0009871	https://omim.org/entry/261990|http://identifiers.org/mesh/C537398|Orphanet:2891|UMLS:C1849811	ordo_malformation_syndrome
MONDO:0044201	biolink:Disease	T+ B+ severe combined immunodeficiency		Orphanet:397802	mondo.json	T+B+ SCID|T-cell positive B-cell positive SCID	http://purl.obolibrary.org/obo/MONDO_0044201	Orphanet:397802	ordo_group_of_disorders|disease_grouping
MONDO:0010849	biolink:Disease	palmoplantar keratoderma, Bothnian type		DOID:0111707|Orphanet:2337|GARD:0001862|OMIM:600231	mondo.json	PPKB|palmoplantar keratoderma, Bothnian type	http://purl.obolibrary.org/obo/MONDO_0010849	https://omim.org/entry/600231|Orphanet:2337|DOID:0111707	
MONDO:0044200	biolink:Disease	T-B+ severe combined immunodeficiency	T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.	Orphanet:317416	mondo.json	T-B+ SCID|T-cell negative B-cell positive SCID	http://purl.obolibrary.org/obo/MONDO_0044200	Orphanet:317416	ordo_group_of_disorders|disease_grouping
MONDO:0009870	biolink:Disease	pili torti	Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome.	SCTID:17170005|GARD:0004361|MESH:C562485|Orphanet:2889|OMIM:261900|HP:0003777	mondo.json	twisted hair|coarse, dry, lusterless hair which breaks off easily|pili torti, early-onset|pili torti, Ronchese type|pili torti|pili torti (disease)	http://purl.obolibrary.org/obo/MONDO_0009870	https://omim.org/entry/261900|Orphanet:2889|http://identifiers.org/snomedct/17170005|http://identifiers.org/mesh/C562485	ordo_disease
CHEBI:18407	biolink:ChemicalSubstance	hydrogen cyanide	A one-carbon compound consisting of a methine group triple bonded to a nitrogen atom		mondo.json	Cyanwasserstoff|HCN|methanenitrile|hydrocyanic acid|Blausaeure|[CHN]|formonitrile|hydrogen(nitridocarbonate)|Hydrogen cyanide|hydrogen cyanide|hydridonitridocarbon	http://purl.obolibrary.org/obo/CHEBI_18407		
HGNC:29110	biolink:NamedThing	KIAA0753			mondo.json		http://identifiers.org/hgnc/29110		
MONDO:0010851	biolink:Disease	Lowry-MacLean syndrome	Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.	UMLS:C0796020|SCTID:721974000|MESH:C537037|OMIM:600252|GARD:0003300|Orphanet:2409	mondo.json	Lowry-MacLean syndrome|intellectual disability, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure|mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure|Lowry MacLean syndrome	http://purl.obolibrary.org/obo/MONDO_0010851	http://identifiers.org/mesh/C537037|Orphanet:2409|https://omim.org/entry/600252|http://identifiers.org/snomedct/721974000|UMLS:C0796020	ordo_malformation_syndrome
CHEBI:18405	biolink:ChemicalSubstance	pyridoxal 5'-phosphate	The monophosphate ester obtained by condensation of phosphoric acid with the primary hydroxy group of pyridoxal.		mondo.json	Pyridoxal phosphate|3-hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde 5-phosphate|PLP|Phosphoric acid mono-(4-formyl-5-hydroxy-6-methyl-pyridin-3-ylmethyl) ester|pyridoxal 5'-(dihydrogen phosphate)|(4-formyl-5-hydroxy-6-methylpyridin-3-yl)methyl dihydrogen phosphate|Pyridoxal 5'-phosphate|Pyridoxal 5-phosphate|pyridoxal 5-monophosphoric acid ester|codecarboxylase|3-hydroxy-2-methyl-5-[(phosphonooxy)methyl]-4-pyridinecarboxaldehyde|PYRIDOXAL-5'-PHOSPHATE	http://purl.obolibrary.org/obo/CHEBI_18405		
MONDO:0010850	biolink:Disease	Tessier number 4 facial cleft		Orphanet:141258|OMIM:600251	mondo.json	facial clefting, oblique, 1|OBLFC1|oculomaxillofacial dysplasia with oblique Facial clefts|facial clefting, oblique, type 1	http://purl.obolibrary.org/obo/MONDO_0010850	https://omim.org/entry/600251|Orphanet:141258	ordo_morphological_anomaly
MONDO:0010853	biolink:Disease	Helicobacter pylori infection, susceptibility to		UMLS:C1838332|OMIM:600263	mondo.json	H. pylori infection, susceptibility to|Helicobacter pylori infection, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0010853	UMLS:C1838332|https://omim.org/entry/600263	predisposition
MONDO:0010852	biolink:Disease	chromosome 8Q12.1-q21.2 deletion syndrome		UMLS:C1838346|OMIM:600257|GARD:0010002|MESH:C536574	mondo.json	Branchio-Oto-renal Duane hydrocephalus contiguous gene syndrome|chromosome 8Q12.1-q21.2 deletion syndrome|bor-Duane hydrocephalus contiguous Gene syndrome	http://purl.obolibrary.org/obo/MONDO_0010852	http://identifiers.org/mesh/C536574|UMLS:C1838346|https://omim.org/entry/600257	
MONDO:0022822	biolink:Disease	congenital cardiovascular shunt		GARD:0006154	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022822		gard_rare
HGNC:20778	biolink:NamedThing	TUBB			mondo.json		http://identifiers.org/hgnc/20778		
CHEBI:79389	biolink:ChemicalSubstance	monovalent inorganic anion	Any inorganic anion with a valency of one.		mondo.json	monovalent inorganic anions	http://purl.obolibrary.org/obo/CHEBI_79389		
MONDO:0022823	biolink:Disease	congenital contractures		GARD:0001477	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022823		gard_rare
MONDO:0022824	biolink:Disease	congenital craniosynostosis maternal hyperthyroiditis		GARD:0001478	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022824		gard_rare
CHEBI:79388	biolink:ChemicalSubstance	divalent inorganic anion	Any inorganic anion with a valency of two.		mondo.json	divalent inorganic anions	http://purl.obolibrary.org/obo/CHEBI_79388		
MONDO:0022825	biolink:Disease	congenital cystic eye		GARD:0010617|Orphanet:519384	mondo.json	CCE	http://purl.obolibrary.org/obo/MONDO_0022825	Orphanet:519384	gard_rare|ordo_morphological_anomaly
CHEBI:79387	biolink:ChemicalSubstance	trivalent inorganic anion	Any inorganic anion with a valency of three.		mondo.json	trivalent inorganic anions	http://purl.obolibrary.org/obo/CHEBI_79387		
MONDO:0022826	biolink:Disease	congenital cystic eye multiple ocular and intracranial anomalies		GARD:0001479	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022826		gard_rare
MONDO:0032221	biolink:Disease	obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism		Orphanet:399846	mondo.json		http://purl.obolibrary.org/obo/MONDO_0032221	Orphanet:399846	
MONDO:0019250	biolink:Disease	inborn disorder of biogenic amine metabolism and transport		Orphanet:79214|UMLS:CN227606	mondo.json	disorder of biogenic amine metabolism and transport	http://purl.obolibrary.org/obo/MONDO_0019250	Orphanet:79214|UMLS:CN227606	ordo_group_of_disorders|disease_grouping
MONDO:0019252	biolink:Disease	obsolete other metabolic disease with skin involvement		Orphanet:79217|UMLS:CN205838	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019252	Orphanet:79217|UMLS:CN205838	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0019251	biolink:Disease	oligosaccharidosis		Orphanet:79215	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019251	Orphanet:79215	ordo_group_of_disorders|disease_grouping
MONDO:0020247	biolink:Disease	congenital vitreoretinal dysplasia		ICD9:743.56|SCTID:449866003|Orphanet:98669	mondo.json	vitreoretinal dysplasia	http://purl.obolibrary.org/obo/MONDO_0020247	http://identifiers.org/snomedct/449866003|Orphanet:98669	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0007269	biolink:Disease	dilated cardiomyopathy 1A	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.	OMIM:115200|GARD:0001104|DOID:0110425|Orphanet:300751|SCTID:766883006|UMLS:C1449563	mondo.json	dilated cardiomyopathy 1A|cardiomyopathy, familial idiopathic|cardiomyopathy, dilated, with conduction defect 1|LMNA familial isolated dilated cardiomyopathy|cardiomyopathy, idiopathic dilated|CDCD1|cardiomyopathy dilated with conduction defect type 1|cardiomyopathy, congestive|cardiomyopathy, dilated, type 1A|familial isolated dilated cardiomyopathy caused by mutation in LMNA|familial dilated cardiomyopathy with conduction defect due to LMNA mutation|dilated cardiomyopathy type 1A|cardiomyopathy, dilated, 1A|dilated cardiomyopathy with conduction defect 1	http://purl.obolibrary.org/obo/MONDO_0007269	UMLS:C1449563|http://identifiers.org/snomedct/766883006|DOID:0110425|https://omim.org/entry/115200|Orphanet:300751	ordo_disease|gard_rare
GO:0042321	biolink:NamedThing	negative regulation of circadian sleep/wake cycle, sleep	Any process that stops, prevents or reduces the duration or quality of sleep, a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals.		mondo.json	down-regulation of circadian sleep/wake cycle, sleep|down regulation of circadian sleep/wake cycle, sleep|negative regulation of sleep|inhibition of circadian sleep/wake cycle, sleep|downregulation of circadian sleep/wake cycle, sleep	http://purl.obolibrary.org/obo/GO_0042321		
GO:0042320	biolink:NamedThing	regulation of circadian sleep/wake cycle, REM sleep	Any process that modulates the frequency, rate or extent of rapid eye movement (REM) sleep.		mondo.json	regulation of REM sleep	http://purl.obolibrary.org/obo/GO_0042320		
MONDO:0020246	biolink:Disease	inherited vitreoretinopathy		HP:0007773|UMLS:C1850109|Orphanet:98668	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020246	UMLS:C1850109|Orphanet:98668	disease_grouping|ordo_group_of_disorders
MONDO:0007267	biolink:Disease	hypertrophic cardiomyopathy 3	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene.	OMIM:115196|DOID:0110309|UMLS:C1861863|MESH:C566170	mondo.json	hypertrophic cardiomyopathy 3|cardiomyopathy, familial hypertrophic, type 3|TPM1 hypertrophic cardiomyopathy|cardiomyopathy familial hypertrophic 3|CMH3|cardiomyopathy, familial hypertrophic, 3|hypertrophic cardiomyopathy caused by mutation in TPM1|hypertrophic cardiomyopathy type 3|cardiomyopathy, hypertrophic, 3	http://purl.obolibrary.org/obo/MONDO_0007267	http://identifiers.org/mesh/C566170|UMLS:C1861863|DOID:0110309|https://omim.org/entry/115196	
MONDO:0020245	biolink:Disease	disease predisposing to age-related macular degeneration		UMLS:CN207066|Orphanet:98667	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020245	Orphanet:98667|UMLS:CN207066	disease_grouping|ordo_group_of_disorders
GO:0042322	biolink:NamedThing	negative regulation of circadian sleep/wake cycle, REM sleep	Any process that stops, prevents or reduces the duration or quality of rapid eye movement (REM) sleep.		mondo.json	inhibition of circadian sleep/wake cycle, REM sleep|negative regulation of REM sleep|downregulation of circadian sleep/wake cycle, REM sleep|down-regulation of circadian sleep/wake cycle, REM sleep|down regulation of circadian sleep/wake cycle, REM sleep	http://purl.obolibrary.org/obo/GO_0042322		
MONDO:0020244	biolink:Disease	obsolete unclassified primitive or secondary maculopathy		Orphanet:98666	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020244	Orphanet:98666	ordo_group_of_disorders|disease_grouping
MONDO:0007268	biolink:Disease	hypertrophic cardiomyopathy 4	An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy.	UMLS:C1861862|MESH:C566169|NCIT:C133725|OMIM:115197|DOID:0110310	mondo.json	cardiomyopathy, familial hypertrophic, type 4|hypertrophic cardiomyopathy caused by mutation in MYBPC3|CMH4|familial hypertrophic cardiomyopathy type 4|hypertrophic cardiomyopathy type 4|cardiomyopathy, familial hypertrophic, 4|cardiomyopathy, hypertrophic, 4|MYBPC3 hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 4, susceptibility to|hypertrophic cardiomyopathy 4	http://purl.obolibrary.org/obo/MONDO_0007268	http://identifiers.org/mesh/C566169|UMLS:C1861862|NCIT:C133725|DOID:0110310|https://omim.org/entry/115197	
MONDO:0007265	biolink:Disease	cardiofaciocutaneous syndrome 1	Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene.	UMLS:CN029449|OMIM:115150|DOID:0111460	mondo.json	CFC1|Cfcs|cardiofaciocutaneous syndrome 1|CFC syndrome|cardiofaciocutaneous syndrome type 1|cardiofaciocutaneous syndrome|cardiofaciocutaneous syndrome caused by mutation in BRAF|BRAF cardiofaciocutaneous syndrome	http://purl.obolibrary.org/obo/MONDO_0007265	DOID:0111460|https://omim.org/entry/115150|UMLS:CN029449	
MONDO:0020243	biolink:Disease	obsolete colobomatous and areolar dystrophy		Orphanet:98665	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020243	Orphanet:98665	ordo_group_of_disorders|disease_grouping
MONDO:0007266	biolink:Disease	hypertrophic cardiomyopathy 2	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.	DOID:0110308|OMIM:115195|MESH:C566171|NCIT:C142892|UMLS:C1861864	mondo.json	cardiomyopathy, familial hypertrophic, type 2|hypertrophic cardiomyopathy 2|TNNT2 hypertrophic cardiomyopathy|cardiomyopathy familial hypertrophic 2|hypertrophic cardiomyopathy caused by mutation in TNNT2|cardiomyopathy, familial hypertrophic, 2|CMH2|familial hypertrophic cardiomyopathy type 2|hypertrophic cardiomyopathy type 2|cardiomyopathy, hypertrophic, 2	http://purl.obolibrary.org/obo/MONDO_0007266	http://identifiers.org/mesh/C566171|UMLS:C1861864|DOID:0110308|https://omim.org/entry/115195|NCIT:C142892	
MONDO:0020242	biolink:Disease	genetic macular dystrophy	Macular dystrophy that is related to a change in a gene.	ICD10CM:H35.5|NCIT:C140264|SCTID:276436007|Orphanet:98664	mondo.json	genetic macular dystrophy (disease)|genetic macular dystrophy	http://purl.obolibrary.org/obo/MONDO_0020242	NCIT:C140264|http://identifiers.org/snomedct/276436007|Orphanet:98664	ordo_group_of_disorders|disease_grouping
MONDO:0020241	biolink:Disease	obsolete unclassified familial retinal dystrophy		UMLS:CN227835|Orphanet:98662	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020241	UMLS:CN227835|Orphanet:98662	ordo_group_of_disorders|disease_grouping
MONDO:0007263	biolink:Disease	cardiac rhythm disease	Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart.	EFO:0004269|ICD9:427.9|SCTID:698247007|NCIT:C2881	mondo.json	arrhythmia	http://purl.obolibrary.org/obo/MONDO_0007263	http://identifiers.org/snomedct/698247007|NCIT:C2881	
MONDO:0007264	biolink:Disease	sudden cardiac arrest	An unexpected natural death from a cardiac cause within a short time period from the onset of symptoms.	SCTID:95281009|EFO:0004278|Orphanet:871|OMIM:115080|NCIT:C78245	mondo.json	disorder of cardiac conduction|heart conduction disorder|sudden cardiac death|cardiac conduction defect|conduction disorder|cardiac conduction disorder|familial sudden death|cardiac conduction defect, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0007264	http://identifiers.org/snomedct/95281009|https://omim.org/entry/115080|NCIT:C78245	
MONDO:0020240	biolink:Disease	syndromic retinitis pigmentosa	A retinitis pigmentosa that is part of a larger syndrome.	Orphanet:98661|UMLS:CN227834	mondo.json	syndromic retinitis pigmentosa|syndrome associated with retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0020240	UMLS:CN227834|Orphanet:98661	ordo_group_of_disorders|disease_grouping
MONDO:0007261	biolink:Disease	Carabelli anomaly of maxillary molar teeth		MESH:C566175|UMLS:C1861897|OMIM:114700	mondo.json	Carabelli anomaly of maxillary molar teeth	http://purl.obolibrary.org/obo/MONDO_0007261	UMLS:C1861897|https://omim.org/entry/114700|http://identifiers.org/mesh/C566175	
MONDO:0007262	biolink:Disease	obsolete carcinoid syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007262		
MONDO:0007260	biolink:Disease	Car factor deficiency		UMLS:C1861898|OMIM:114650|MESH:C566176	mondo.json	Car factor deficiency	http://purl.obolibrary.org/obo/MONDO_0007260	https://omim.org/entry/114650|http://identifiers.org/mesh/C566176|UMLS:C1861898	n_of_one
GO:0042325	biolink:NamedThing	regulation of phosphorylation	Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0042325		
MONDO:0020239	biolink:Disease	obsolete color-vision disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020239		
MONDO:0020238	biolink:Disease	inherited vitreous-retinal disease		Orphanet:98657|UMLS:CN207063	mondo.json	genetic vitreous-retinal disease|genetic vitreoretinal disease	http://purl.obolibrary.org/obo/MONDO_0020238	Orphanet:98657|UMLS:CN207063	disease_grouping|ordo_group_of_disorders
GO:0042327	biolink:NamedThing	positive regulation of phosphorylation	Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to a molecule.		mondo.json	up regulation of phosphorylation|activation of phosphorylation|stimulation of phosphorylation|upregulation of phosphorylation|up-regulation of phosphorylation	http://purl.obolibrary.org/obo/GO_0042327		
MONDO:0020237	biolink:Disease	lens shape anomaly		Orphanet:98655	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020237	Orphanet:98655	disease_grouping|ordo_group_of_disorders
GO:0042326	biolink:NamedThing	negative regulation of phosphorylation	Any process that stops, prevents or decreases the rate of addition of phosphate groups to a molecule.		mondo.json	down-regulation of phosphorylation|down regulation of phosphorylation|downregulation of phosphorylation|inhibition of phosphorylation	http://purl.obolibrary.org/obo/GO_0042326		
HGNC:17109	biolink:NamedThing	ADAMTS17			mondo.json		http://identifiers.org/hgnc/17109		
MONDO:0019258	biolink:Disease	mild phenylketonuria	Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity.	GARD:0010324|Orphanet:79253	mondo.json	variant PKU|variant phenylketonuria|mild PKU|mPKU	http://purl.obolibrary.org/obo/MONDO_0019258	Orphanet:79253	ordo_clinical_subtype|gard_rare
MONDO:0022899	biolink:Disease	crawfurd syndrome		GARD:0001607	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022899		gard_rare
HGNC:17104	biolink:NamedThing	CDON			mondo.json		http://identifiers.org/hgnc/17104		
MONDO:0019257	biolink:Disease	hemochromatosis type 2	Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.	SCTID:50855007|Orphanet:79230|UMLS:CN205842|DOID:0111034|GARD:0010092|MESH:C537247	mondo.json	hemochromatosis juvenile|iron overload disease juvenile|HFE2|JHH|juvenile hemochromatosis	http://purl.obolibrary.org/obo/MONDO_0019257	http://identifiers.org/mesh/C537247|DOID:0111034|Orphanet:79230|http://identifiers.org/snomedct/50855007|UMLS:CN205842	ordo_disease
MONDO:0019259	biolink:Disease	classic phenylketonuria	Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.	MedDRA:10034875|UMLS:C0751434|Orphanet:79254	mondo.json	classic PKU	http://purl.obolibrary.org/obo/MONDO_0019259	UMLS:C0751434|Orphanet:79254	ordo_clinical_subtype
HGNC:20748	biolink:NamedThing	FANCL			mondo.json		http://identifiers.org/hgnc/20748		
MONDO:0019254	biolink:Disease	inborn disorder of purine or pyrimidine metabolism		MedDRA:10037546|ICD9:277.2|DOID:653|Orphanet:79224|UMLS:C0034139|MESH:D011686	mondo.json	inborn errors of purine-pyrimidine metabolism|inborn purine-pyrimidine metabolic disorder|purine-pyrimidine metabolic disorder|disorder of purine or pyrimidine metabolism	http://purl.obolibrary.org/obo/MONDO_0019254	DOID:653|Orphanet:79224|http://identifiers.org/mesh/D011686|UMLS:C0034139	ordo_group_of_disorders|disease_grouping
MONDO:0019253	biolink:Disease	metabolic disease involving other neurotransmitter deficiency		Orphanet:79219|UMLS:CN205839	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019253	Orphanet:79219|UMLS:CN205839	ordo_group_of_disorders|disease_grouping
MONDO:0019256	biolink:Disease	sterol metabolism disorder	An inherited metabolic disease that is has its basis in the disruption of sterol metabolic process.	Orphanet:79226|UMLS:CN227607	mondo.json	rare inborn error of sterol metabolic process|inborn sterol metabolic process disorder|inborn error of sterol metabolic process	http://purl.obolibrary.org/obo/MONDO_0019256	Orphanet:79226|UMLS:CN227607	disease_grouping|ordo_group_of_disorders
MONDO:0019255	biolink:Disease	sphingolipidosis	An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.	NCIT:C117254|DOID:1927|Orphanet:79225|SCTID:238028008|GARD:0007672|MESH:D013106|UMLS:C0037899	mondo.json	sphingolipidoses	http://purl.obolibrary.org/obo/MONDO_0019255	Orphanet:79225|UMLS:C0037899|DOID:1927|http://identifiers.org/snomedct/238028008|NCIT:C117254|http://identifiers.org/mesh/D013106	disease_grouping|gard_rare|ordo_group_of_disorders
MONDO:0034819	biolink:Disease	obsolete familial intestinal malrotation	OBSOLETE. A rare familial intestinal malformation characterized by failure of the rotation of the developing gastrointestinal tract around the superior mesenteric artery during embryonic development, resulting in a spectrum of abnormalities of intestinal position and fixation. Patients most typically present in the neonatal period with midgut volvulus, which can lead to short bowel syndrome or even death. Signs and symptoms include bilious vomiting, feeding intolerance, failure to thrive, constipation, bloody stools, or intermittent apnea. The condition may also manifest later in life with complications like kinking or hernias and a broad range of intestinal symptoms. It can be an isolated finding or occur in association with other anomalies.	Orphanet:508410	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034819	Orphanet:508410	
MONDO:0022891	biolink:Disease	craniosynostosis Maroteaux Fonfria type		GARD:0001598	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022891		gard_rare
MONDO:0022892	biolink:Disease	craniosynostosis alopecia brain defect		GARD:0001586	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022892		gard_rare
MONDO:0019241	biolink:Disease	inborn disorder of the gamma-glutamyl cycle		UMLS:C0268517|SCTID:9128006|Orphanet:79196	mondo.json	disorder of the gamma-glutamyl cycle|disorder of gamma-glutamyl cycle	http://purl.obolibrary.org/obo/MONDO_0019241	Orphanet:79196|UMLS:C0268517|http://identifiers.org/snomedct/9128006	disease_grouping|ordo_group_of_disorders
HGNC:20761	biolink:NamedThing	ZFYVE26			mondo.json		http://identifiers.org/hgnc/20761		
MONDO:0022893	biolink:Disease	craniosynostosis arthrogryposis cleft palate		GARD:0001587	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022893		gard_rare
MONDO:0019240	biolink:Disease	sterol biosynthesis disorder	An inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process.	UMLS:CN227602|Orphanet:79195	mondo.json	inborn sterol biosynthetic process disorder|rare inborn error of sterol biosynthetic process|inborn error of sterol biosynthetic process	http://purl.obolibrary.org/obo/MONDO_0019240	Orphanet:79195|UMLS:CN227602	ordo_group_of_disorders|disease_grouping
MONDO:0022894	biolink:Disease	craniosynostosis autosomal dominant		GARD:0001588	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022894		gard_rare
MONDO:0022895	biolink:Disease	craniosynostosis cleft lip palate arthrogryposis		GARD:0001590	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022895		gard_rare
MONDO:0022896	biolink:Disease	craniosynostosis contractures cleft		GARD:0001591	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022896		gard_rare
MONDO:0022897	biolink:Disease	craniosynostosis exostoses nevus epibulbar dermoid		GARD:0001593	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022897		gard_rare
HGNC:20766	biolink:NamedThing	TUBA1A			mondo.json		http://identifiers.org/hgnc/20766		
MONDO:0022898	biolink:Disease	craniosynostosis intellectual disability heart defects		GARD:0001600	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022898		gard_rare
MONDO:0020236	biolink:Disease	obsolete lens position anomaly	OBSOLETE. Partial or complete displacement of the crystalline lens from its normal position in the eye.	Orphanet:98653|HP:0001083|NCIT:C125484	mondo.json	ectopia lentis	http://purl.obolibrary.org/obo/MONDO_0020236	NCIT:C125484|Orphanet:98653	ordo_group_of_disorders
MONDO:0020235	biolink:Disease	lens size anomaly		Orphanet:98652	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020235	Orphanet:98652	ordo_group_of_disorders|disease_grouping
MONDO:0007278	biolink:Disease	cataract 32 multiple types	A cataract that has material basis in mutation in the region 14q22-q23.	Orphanet:98993|OMIM:115650|DOID:0110227|UMLS:C1855179|Orphanet:98988	mondo.json	cataract, anterior polar, 1|cataract, anterior polar|cataract, posterior polar, 5|anterior polar cataract 1|posterior polar cataract 5|CTPP5|cataract 32, multiple types|CTRCT32|CTAA1	http://purl.obolibrary.org/obo/MONDO_0007278	DOID:0110227|https://omim.org/entry/115650	
MONDO:0020234	biolink:Disease	obsolete craniofacial anomaly with cataract		Orphanet:98650	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020234	Orphanet:98650	ordo_group_of_disorders|disease_grouping
MONDO:0020233	biolink:Disease	obsolete dentocutaneous disease with cataract		Orphanet:98649|UMLS:CN207061	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020233	Orphanet:98649|UMLS:CN207061	ordo_group_of_disorders
MONDO:0007279	biolink:Disease	cataract 7	A cataract that has material basis in variation in the region 17q24.	DOID:0110260|OMIM:115660	mondo.json	cataract type 7|cataract, congenital, cerulean type, 1|CTRCT7|cataract 7|congenital cerulean type cataract 1|CCA1|cerulean type cataract 7|cataract 7, cerulean type	http://purl.obolibrary.org/obo/MONDO_0007279	DOID:0110260|https://omim.org/entry/115660	
MONDO:0007276	biolink:Disease	cat-eye syndrome	Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.	GARD:0000026|SCTID:26445008|UMLS:C0265493|OMIM:115470|MESH:C535918|NCIT:C75477|DECIPHER:42|Orphanet:195	mondo.json	chromosome 22 partial tetrasomy|cat-eye syndrome (Type I)|Inv dup(22)(q11)|CES|Schmid-Fraccaro syndrome|CAT eye syndrome	http://purl.obolibrary.org/obo/MONDO_0007276	UMLS:C0265493|NCIT:C75477|http://identifiers.org/snomedct/26445008|http://identifiers.org/mesh/C535918|https://omim.org/entry/115470|Orphanet:195	gard_rare|ordo_malformation_syndrome
MONDO:0020232	biolink:Disease	obsolete musculoskeletal disease with cataract		Orphanet:98648|UMLS:CN207060	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020232	UMLS:CN207060|Orphanet:98648	ordo_group_of_disorders
MONDO:0007277	biolink:Disease	cataract-aberrant oral frenula-growth delay syndrome	Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.	Orphanet:1373|GARD:0005554|SCTID:715988005|MESH:C536691|OMIM:115645	mondo.json	Wellesley Carmen French syndrome|cataract, aberrant oral frenula, and growth retardation|Wellesley-Carman-French syndrome|cataracts, aberrant oral frenula, and growth retardation	http://purl.obolibrary.org/obo/MONDO_0007277	http://identifiers.org/mesh/C536691|http://identifiers.org/snomedct/715988005|https://omim.org/entry/115645|Orphanet:1373	ordo_malformation_syndrome
MONDO:0020231	biolink:Disease	obsolete cardiac disease with cataract		Orphanet:98647|UMLS:CN207059	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020231	Orphanet:98647|UMLS:CN207059	ordo_group_of_disorders
MONDO:0020230	biolink:Disease	obsolete renal disease with cataract		UMLS:CN207058|Orphanet:98646	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020230	UMLS:CN207058|Orphanet:98646	ordo_group_of_disorders
MONDO:0007274	biolink:Disease	carpal displacement		OMIM:115400|UMLS:C1861847	mondo.json	carpal displacement|carpal bossing	http://purl.obolibrary.org/obo/MONDO_0007274	https://omim.org/entry/115400|UMLS:C1861847	
GO:0042330	biolink:NamedThing	taxis	The directed movement of a motile cell or organism in response to an external stimulus.		mondo.json	directed movement in response to stimulus	http://purl.obolibrary.org/obo/GO_0042330		
MONDO:0007275	biolink:Disease	carpal tunnel syndrome	Entrapment of the median nerve in the wrist that is characterized by numbness, tingling and painful movement.	MESH:D002349|ICD9:354.0|UMLS:C0007286|SCTID:57406009|ICD10CM:G56.0|OMIMPS:115430|EFO:0004143|DOID:12169|Orphanet:50838|NCIT:C34450	mondo.json	CTS|carpal tunnel syndrome|amyotrophy, thenar, of carpal origin|CTS - carpal tunnel syndrome|median nerve entrapment|carpal tunnel median neuropathy	http://purl.obolibrary.org/obo/MONDO_0007275	UMLS:C0007286|DOID:12169|https://omim.org/phenotypicSeries/PS115430|http://identifiers.org/snomedct/57406009|http://identifiers.org/mesh/D002349|Orphanet:50838|http://purl.bioontology.org/ontology/ICD10CM/G56.0|NCIT:C34450	
MONDO:0022890	biolink:Disease	craniosynostosis Fontaine type		GARD:0001595	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022890		gard_rare
MONDO:0007272	biolink:Disease	hereditary hypercarotenemia and vitamin A deficiency	Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.	MESH:C567296|Orphanet:199285|OMIM:115300|SCTID:726079008	mondo.json	HCVAD|hypercarotenemia and vitamin A deficiency, autosomal dominant|Carotenoids, plasma level of, quantitative trait locus 1	http://purl.obolibrary.org/obo/MONDO_0007272	Orphanet:199285|https://omim.org/entry/115300|http://identifiers.org/snomedct/726079008|http://identifiers.org/mesh/C567296	ordo_disease
MONDO:0007273	biolink:Disease	paragangliomas 4	Any paraganglioma in which the cause of the disease is a mutation in the SDHB gene.	OMIM:115310|GARD:0010546|UMLS:C1861848	mondo.json	SDHB-related hereditary paraganglioma-pheochromocytoma syndrome|paragangliomas, hereditary extraadrenal|paragangliomas type 4|pheochromocytoma, familial extraadrenal|paraganglioma, familial malignant|paragangliomas 4|SDHB paraganglioma|pheochromocytoma, extraadrenal and cervical paraganglioma|pheochromocytoma, extraadrenal, and cervical paraganglioma|PGL4|paraganglioma caused by mutation in SDHB|carotid body tumors and multiple extraadrenal Pheochromocytomas	http://purl.obolibrary.org/obo/MONDO_0007273	https://omim.org/entry/115310|UMLS:C1861848	gard_rare
MONDO:0007270	biolink:Disease	cardiomyopathy, familial restrictive, 1	Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.	MESH:C566168|OMIM:115210|UMLS:C1861861|DOID:0111425	mondo.json	RCM1|familial isolated restrictive cardiomyopathy caused by mutation in TNNI3|cardiomyopathy, familial restrictive, type 1|Rcm|TNNI3 familial isolated restrictive cardiomyopathy|cardiomyopathy, familial restrictive, 1	http://purl.obolibrary.org/obo/MONDO_0007270	https://omim.org/entry/115210|http://identifiers.org/mesh/C566168|UMLS:C1861861|DOID:0111425	
MONDO:0007271	biolink:Disease	familial cutaneous collagenoma	Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.	MESH:C562925|OMIM:115250|GARD:0009799|Orphanet:53296|SCTID:239139000|UMLS:C0406817	mondo.json	collagenoma, familial cutaneous	http://purl.obolibrary.org/obo/MONDO_0007271	https://omim.org/entry/115250|Orphanet:53296|http://identifiers.org/snomedct/239139000|http://identifiers.org/mesh/C562925|UMLS:C0406817	ordo_disease|gard_rare
MONDO:0020229	biolink:Disease	obsolete cerebral disease with cataract		Orphanet:98645|UMLS:CN207057	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020229	UMLS:CN207057|Orphanet:98645	ordo_group_of_disorders
MONDO:0020228	biolink:Disease	obsolete cataract associated with a metabolic disease		Orphanet:98644|UMLS:CN207056	mondo.json	metabolic disease with cataract	http://purl.obolibrary.org/obo/MONDO_0020228	UMLS:CN207056|Orphanet:98644	ordo_group_of_disorders
MONDO:0020227	biolink:Disease	obsolete systemic disease with cataract		UMLS:C0339369|Orphanet:98643	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020227	UMLS:C0339369|Orphanet:98643	ordo_group_of_disorders|disease_grouping
MONDO:0020226	biolink:Disease	obsolete chromosomal anomaly with cataract		Orphanet:98642	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020226	Orphanet:98642	ordo_group_of_disorders
MONDO:0022888	biolink:Disease	craniostenosis cataract		GARD:0001584	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022888		gard_rare
MONDO:0019247	biolink:Disease	obsolete combined hyperlipidemia (including acquired and inherited)			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019247		
MONDO:0019246	biolink:Disease	inborn disorder of lysosomal amino acid transport		UMLS:CN227605|Orphanet:79207	mondo.json	disorder of lysosomal amino acid transport	http://purl.obolibrary.org/obo/MONDO_0019246	UMLS:CN227605|Orphanet:79207	ordo_group_of_disorders|disease_grouping
MONDO:0022889	biolink:Disease	craniostenosis with congenital heart disease intellectual disability		GARD:0001585	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022889		gard_rare
MONDO:0019249	biolink:Disease	mucopolysaccharidosis	A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.	OMIMPS:607014|GARD:0007065|MedDRA:10028093|SCTID:11380006|MESH:D009083|NCIT:C61259|DOID:12798|Orphanet:79213|UMLS:C0026703|ICD9:277.5	mondo.json	mucopolysaccharidosis|MPS|mucopolysaccharidoses	http://purl.obolibrary.org/obo/MONDO_0019249	http://identifiers.org/mesh/D009083|UMLS:C0026703|http://identifiers.org/snomedct/11380006|NCIT:C61259|Orphanet:79213|DOID:12798|https://omim.org/phenotypicSeries/PS607014	disease_grouping|gard_rare|ordo_group_of_disorders
MONDO:0034820	biolink:Disease	cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome	A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices, and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma), and conductive or sensorineural hearing loss.	Orphanet:508476	mondo.json	hyaluronidase 2 deficiency|cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0034820	Orphanet:508476	ordo_disorder
MONDO:0019248	biolink:Disease	mucolipidosis	A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.	DOID:0080488|MESH:D009081|UMLS:C0026697|SCTID:70528007|NCIT:C61267|Orphanet:79212	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019248	http://identifiers.org/mesh/D009081|DOID:0080488|UMLS:C0026697|NCIT:C61267|Orphanet:79212|http://identifiers.org/snomedct/70528007	disease_grouping|ordo_group_of_disorders
HGNC:17116	biolink:NamedThing	CATSPER1			mondo.json		http://identifiers.org/hgnc/17116		
MONDO:0019243	biolink:Disease	inborn disorder of energy metabolism	An inherited metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy.	Orphanet:79200|UMLS:CN227604	mondo.json	inborn error of generation of precursor metabolites and energy|rare inborn error of generation of precursor metabolites and energy|disorder of energy metabolism|inborn generation of precursor metabolites and energy disorder	http://purl.obolibrary.org/obo/MONDO_0019243	Orphanet:79200|UMLS:CN227604	disease_grouping|ordo_group_of_disorders
MONDO:0019242	biolink:Disease	inborn disorder of branched-chain amino acid metabolism	An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process.	UMLS:C0342712|SCTID:116020001|Orphanet:79197	mondo.json	disorder of branched-chain amino acid metabolism|disorder of branched chain amino acid metabolism|inborn disorder of branched-chain amino acid metabolism|branched chain amino acid metabolism disorder|rare inborn error of branched-chain amino acid metabolic process|inborn branched-chain amino acid metabolic process disorder|inborn error of branched-chain amino acid metabolic process	http://purl.obolibrary.org/obo/MONDO_0019242	Orphanet:79197|UMLS:C0342712|http://identifiers.org/snomedct/116020001	disease_grouping|ordo_group_of_disorders
HGNC:17110	biolink:NamedThing	ADAMTS18			mondo.json		http://identifiers.org/hgnc/17110		
MONDO:0019245	biolink:Disease	lysosomal lipid storage disorder	An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes.	SCTID:10741005|UMLS:CN205834|ICD9:272.8|Orphanet:79204|DOID:9455|MESH:D008064|ICD9:272.7	mondo.json	lipoidosis|rare inborn error of lipid storage|inborn error of lipid storage|lipoid storage disease|lipoid storage disorder|inborn lipid storage disorder|lipidoses|lipoid storage diseas|lipid storage disease|lipidosis|lipoidoses	http://purl.obolibrary.org/obo/MONDO_0019245	http://identifiers.org/mesh/D008064|http://identifiers.org/snomedct/10741005|Orphanet:79204|DOID:9455|UMLS:CN205834	disease_grouping|ordo_group_of_disorders
MONDO:0019244	biolink:Disease	obsolete glycogen storage disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019244		
MONDO:0022880	biolink:Disease	obsolete corticobasal degeneration			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022880		
MONDO:0019230	biolink:Disease	inborn disorder of ornithine or proline metabolism		Orphanet:79185|UMLS:CN227595	mondo.json	disorder of ornithine or proline metabolism	http://purl.obolibrary.org/obo/MONDO_0019230	Orphanet:79185|UMLS:CN227595	disease_grouping|ordo_group_of_disorders
MONDO:0022883	biolink:Disease	craniofacial and skeletal defects		GARD:0001570	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022883		gard_rare
MONDO:0022884	biolink:Disease	craniofacial dysostosis arthrogryposis progeroid appearence		GARD:0001573	mondo.json	Van Biervliet Hendrickx Van Ertbruggen syndrome	http://purl.obolibrary.org/obo/MONDO_0022884		gard_rare
MONDO:0022885	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0022885		
HGNC:20731	biolink:NamedThing	GNB4			mondo.json		http://identifiers.org/hgnc/20731		
MONDO:0007249	biolink:Disease	camptobrachydactyly	Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.	GARD:0001062|Orphanet:1319|MESH:C537967|SCTID:733045005|OMIM:114150	mondo.json	short foot/brachydactyly of toes, camptodactyly, brachydactyly|camptobrachydactyly	http://purl.obolibrary.org/obo/MONDO_0007249	Orphanet:1319|http://identifiers.org/mesh/C537967|https://omim.org/entry/114150|http://identifiers.org/snomedct/733045005	ordo_malformation_syndrome|gard_rare
MONDO:0034823	biolink:Disease	oral-facial-digital syndrome with short stature and brachymesophalangy	A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.	Orphanet:508501	mondo.json	orofaciodigital syndrome type 18|oral-facial-digital syndrome type 18|OFD18	http://purl.obolibrary.org/obo/MONDO_0034823	Orphanet:508501	ordo_disorder
MONDO:0022887	biolink:Disease	craniofrontonasal syndrome Teebi type		GARD:0001579	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022887		gard_rare
MONDO:0020225	biolink:Disease	obsolete syndromic cataract	OBSOLETE. A cataract (disease) that is part of a larger syndrome.	Orphanet:98641|UMLS:CN227829	mondo.json	syndromic cataract (disease)|syndrome associated with cataract (disease)	http://purl.obolibrary.org/obo/MONDO_0020225	Orphanet:98641|UMLS:CN227829	ordo_group_of_disorders
MONDO:0007247	biolink:Disease	basal ganglia calcification, idiopathic, childhood-onset		GARD:0009598|UMLS:C1861967|OMIM:114100|MESH:C536276	mondo.json	cerebral calcification nonarteriosclerotic idiopathic childhood-onset|IBGC childhood onset|striopallidodentate calcinosis, bilateral, childhood-onset|IBGC, childhood-onset|cerebral calcification, nonarteriosclerotic, idiopathic, childhood-onset|basal ganglia calcification, idiopathic, childhood-onset|idiopathic basal ganglia calcification childhood-onset|bilateral striopallidodentate calcinosis childhood-onset	http://purl.obolibrary.org/obo/MONDO_0007247	http://identifiers.org/mesh/C536276|UMLS:C1861967|https://omim.org/entry/114100	gard_rare
MONDO:0010899	biolink:Disease	autosomal dominant nocturnal frontal lobe epilepsy 1	Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA4 gene.	UMLS:C1838049|DOID:0060682|OMIM:600513|MESH:C563930	mondo.json	epilepsy, nocturnal frontal lobe, 1|ENFL1|nocturnal frontal lobe epilepsy 1|epilepsy, nocturnal frontal lobe, type 1|autosomal dominant nocturnal frontal lobe epilepsy type 1|CHRNA4 autosomal dominant nocturnal frontal lobe epilepsy|autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA4	http://purl.obolibrary.org/obo/MONDO_0010899	UMLS:C1838049|DOID:0060682|http://identifiers.org/mesh/C563930|https://omim.org/entry/600513	
MONDO:0020224	biolink:Disease	obsolete rare cataract	OBSOLETE. Rare cataract.	Orphanet:98640	mondo.json	rare cataract|rare cataract (disease)	http://purl.obolibrary.org/obo/MONDO_0020224	Orphanet:98640	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0007248	biolink:Disease	hereditary painful callosities	Hereditary painful callosities is a nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points in hands and feet. A few families have been described. Transmission is autosomal dominant. Successful analgesia can be obtained with tretinoin.	MESH:C566180|Orphanet:79141|UMLS:C1861964|OMIM:114140	mondo.json	PPK nummularis|keratosis palmoplantaris nummularis|callosities, painful plantar|Plamoplantar keratoderma nummularis|callosities, hereditary painful|Plamoplantar hyperkeratosis nummularis	http://purl.obolibrary.org/obo/MONDO_0007248	http://identifiers.org/mesh/C566180|UMLS:C1861964|Orphanet:79141|https://omim.org/entry/114140	ordo_disease
MONDO:0010898	biolink:Disease	Autosomal dominant epilepsy with auditory features	A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.	GARD:0002257|Orphanet:101046|MESH:C537297|DOID:0060748|UMLS:C1838062	mondo.json	autosomal dominant lateral temporal lobe epilepsy|epilepsy, partial, with auditory features|partial epilepsy with auditory aura|partial epilepsy with auditory features|Autosomal dominant epilepsy with auditory features|ETL1|ADPEAF|ADLTE|epilepsy, familial temporal lobe, type 1|epilepsy, familial temporal lobe, 1|autosomal dominant partial epilepsy with auditory features|autosomal dominant epilepsy with auditory features|epilepsy, lateral temporal lobe, autosomal dominant|ADEAF|familial temporal lobe epilepsy 1|epilepsy, familial temporal lobe 1|familial temporal lobe epilepsy type 1	http://purl.obolibrary.org/obo/MONDO_0010898	UMLS:C1838062|Orphanet:101046|DOID:0060748|http://identifiers.org/mesh/C537297	ordo_disease
MONDO:0007245	biolink:Disease	cafe au lait spots, multiple	A cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.	GARD:0003967|UMLS:C1861975|Orphanet:2678|OMIM:114030|MESH:C537421|UMLS:CN035858|GARD:0001050	mondo.json	cafe-au-lait spots, multiple|multiple cafe-au-lait syndrome|NF6|autosomal dominant café au lait spots|multiple café-au-lait syndrome|familial cafe-au-lait spots|neurofibromatosis type 6|familial café-au-lait spots|multiple café-au-lait spots|multiple cafe-au-lait spots	http://purl.obolibrary.org/obo/MONDO_0007245	Orphanet:2678|http://identifiers.org/mesh/C537421|UMLS:C1861975|https://omim.org/entry/114030|UMLS:CN035858	gard_rare|ordo_malformation_syndrome
MONDO:0020223	biolink:Disease	obsolete lens and zonula anomaly		Orphanet:98639	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020223	Orphanet:98639	ordo_group_of_disorders|implicit_genetic_in_ordo|obsoletion_candidate|disease_grouping
MONDO:0007246	biolink:Disease	calcific aortic disease with immunologic abnormalities, familial		MESH:C566182|UMLS:C1861974|OMIM:114065	mondo.json	calcific aortic disease with immunologic abnormalities, familial	http://purl.obolibrary.org/obo/MONDO_0007246	http://identifiers.org/mesh/C566182|UMLS:C1861974|https://omim.org/entry/114065	
MONDO:0020222	biolink:Disease	obsolete rare disease with glaucoma as a major feature		UMLS:CN207054|Orphanet:98638	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020222	UMLS:CN207054|Orphanet:98638	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0007243	biolink:Disease	Burkitt lymphoma	Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma.	NCIT:C2912|ONCOTREE:BL|Orphanet:543|MESH:D002051|MedDRA:10053518|GARD:0005973|ICD9:200.2|MedDRA:10067184|EFO:0000309|MedDRA:10006595|SCTID:118617000|SCTID:277571004|DOID:8584|UMLS:C0006413|ICDO:9687/3|OMIM:113970	mondo.json	Burkitt's tumor or lymphoma|Burkitt's lymphoma|BL|small non-cleaved cell lymphoma|Burkitt lymphoma|Burkitt's tumor|small non-cleaved cell lymphoma, Burkitt's type|burkitt lymphoma, somatic|malignant lymphoma, Burkitt's type|Burkitt lymphoma/leukaemia	http://purl.obolibrary.org/obo/MONDO_0007243	http://identifiers.org/snomedct/118617000|NCIT:C2912|Orphanet:543|UMLS:C0006413|DOID:8584|http://identifiers.org/mesh/D002051|https://omim.org/entry/113970	ordo_disease
MONDO:0020221	biolink:Disease	obsolete secondary glaucoma due to a proliferation and differentiation anomaly		Orphanet:98637	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020221	Orphanet:98637	ordo_group_of_disorders|disease_grouping
GO:0140603	biolink:NamedThing	obsolete ATP hydrolysis activity	OBSOLETE. Catalysis of the reaction: ATP + H2O = ADP + H+ Pi. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.		mondo.json		http://purl.obolibrary.org/obo/GO_0140603		
MONDO:0007244	biolink:Disease	Caffey disease	Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.	NCIT:C118423|UMLS:C0020497|OMIM:114000|SCTID:24752008|DOID:4257|ICD9:756.59|MESH:D006958|Orphanet:1310|GARD:0001051	mondo.json	cortical congenital hyperostosis|Caffey disease|infantile cortical hyperostosis	http://purl.obolibrary.org/obo/MONDO_0007244	NCIT:C118423|http://identifiers.org/snomedct/24752008|Orphanet:1310|DOID:4257|https://omim.org/entry/114000|http://identifiers.org/mesh/D006958|UMLS:C0020497	ordo_malformation_syndrome
MONDO:0020220	biolink:Disease	obsolete corneoiridogoniodysgenesis		Orphanet:98636	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020220	Orphanet:98636	ordo_group_of_disorders
MONDO:0007241	biolink:Disease	bundle branch block, familial isolated complete right		OMIM:113950|UMLS:C0340504|MESH:C562759|SCTID:233919006	mondo.json	bundle branch block, familial isolated complete right	http://purl.obolibrary.org/obo/MONDO_0007241	UMLS:C0340504|http://identifiers.org/snomedct/233919006|http://identifiers.org/mesh/C562759|https://omim.org/entry/113950	
MONDO:0007242	biolink:Disease	butyrylesterase 1		OMIM:113960	mondo.json	Butyrylesterase type 1|butyrylesterase 1	http://purl.obolibrary.org/obo/MONDO_0007242	https://omim.org/entry/113960	
MONDO:0007240	biolink:Disease	progressive familial heart block, type 1A	An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block.	DOID:0111074|EFO:0004138|NCIT:C126651|OMIM:113900|MESH:D002037|GARD:0001093	mondo.json	Lenegre disease|progressive familial heart block, type IA|progressive familial heart block type 1A|Cardiac conduction defect, progressive|PFHB1A|heart block progressive familial type 1|heart block, progressive, type IA|progressive familial heart block type IA|hereditary bundle branch system defect|heart block, progressive familial, type 1|Cardiac conduction defect, nonprogressive|progressive familial heart block caused by mutation in SCN5A|SCN5A progressive familial heart block|Lenegre's syndrome|Lev disease|Lenegre-Lev disease|Lenegre's disease|heart block, nonprogressive	http://purl.obolibrary.org/obo/MONDO_0007240	DOID:0111074|NCIT:C126651|http://identifiers.org/mesh/D002037|https://omim.org/entry/113900	gard_rare
MONDO:0020219	biolink:Disease	corneogoniodysgenesis		Orphanet:98635	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020219	Orphanet:98635	disease_grouping|ordo_group_of_disorders
MONDO:0020218	biolink:Disease	obsolete goniodysgenesis		Orphanet:98633|SCTID:251730004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020218	http://identifiers.org/snomedct/251730004|Orphanet:98633	ordo_group_of_disorders
MONDO:0019239	biolink:Disease	inborn disorder of serine family metabolism	An inherited metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process.	Orphanet:79194|UMLS:CN227601	mondo.json	disorder of serine or glycine metabolism|inborn error of serine family amino acid metabolic process|rare inborn error of serine family amino acid metabolic process|inborn serine family amino acid metabolic process disorder|inborn disorder of serine or glycine metabolism	http://purl.obolibrary.org/obo/MONDO_0019239	UMLS:CN227601|Orphanet:79194	disease_grouping|ordo_group_of_disorders
MONDO:0020217	biolink:Disease	obsolete secondary dysgenetic glaucoma associated with neural crest cell migration anomaly		Orphanet:98632	mondo.json	glaucoma associated with neural crest cell migration anomaly	http://purl.obolibrary.org/obo/MONDO_0020217	Orphanet:98632	ordo_group_of_disorders
MONDO:0020216	biolink:Disease	secondary dysgenetic glaucoma	A hereditary disease that is associated with congenital ocular anomalies such as conditions associated with mesodermal dysgenesis of the neural crest, phakomatoses characterized by hamartomas, metabolic disorders, mitotic disorders, and other congenital disorders and associated with acquired conditions such as tumors, uveitis, and trauma.	Orphanet:98631	mondo.json	secondary congenital glaucoma	http://purl.obolibrary.org/obo/MONDO_0020216	Orphanet:98631	disease_grouping|ordo_group_of_disorders
HGNC:19747	biolink:NamedThing	EVC2			mondo.json		http://identifiers.org/hgnc/19747		
MONDO:0020215	biolink:Disease	syndromic corneal dystrophy	A corneal dystrophy (disease) that is part of a larger syndrome.	UMLS:CN227823|Orphanet:98628	mondo.json	syndrome associated with corneal dystrophy (disease)|syndromic corneal dystrophy (disease)	http://purl.obolibrary.org/obo/MONDO_0020215	UMLS:CN227823|Orphanet:98628	disease_grouping|ordo_group_of_disorders
MONDO:0019236	biolink:Disease	inborn disorder of purine metabolism	An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process.	MedDRA:10061476|Orphanet:79191|UMLS:C0268104	mondo.json	disorder of purine metabolism|rare inborn error of purine nucleobase metabolic process|inborn error of purine nucleobase metabolic process|inborn purine nucleobase metabolic process disorder	http://purl.obolibrary.org/obo/MONDO_0019236	Orphanet:79191	ordo_group_of_disorders|disease_grouping
MONDO:0019235	biolink:Disease	inborn disorder of phenylalanine and tyrosine metabolism		UMLS:CN227599|Orphanet:79190	mondo.json	disorder of phenylalanin or tyrosine metabolism|inborn disorder of phenylalanin or tyrosine metabolism	http://purl.obolibrary.org/obo/MONDO_0019235	UMLS:CN227599|Orphanet:79190	ordo_group_of_disorders|disease_grouping
MONDO:0019238	biolink:Disease	inborn disorder of pyrimidine metabolism	ANPM	DOID:0050832|MedDRA:10070969|Orphanet:79193|UMLS:C0268127	mondo.json	pyrimidine metabolic disorder|disorder of pyrimidine metabolism|rare inborn error of pyrimidine nucleobase metabolic process|inborn pyrimidine nucleobase metabolic process disorder|inborn error of pyrimidine nucleobase metabolic process	http://purl.obolibrary.org/obo/MONDO_0019238	Orphanet:79193|DOID:0050832	disease_grouping|ordo_group_of_disorders
HGNC:19743	biolink:NamedThing	POMT2			mondo.json		http://identifiers.org/hgnc/19743		
MONDO:0019237	biolink:Disease	inborn disorder of pyridoxine metabolism	An inherited metabolic disease that is has its basis in the disruption of pyridoxine metabolic process.	Orphanet:79192|UMLS:CN227600	mondo.json	disorder of pyridoxine metabolism|inborn error of pyridoxine metabolic process|rare inborn error of pyridoxine metabolic process|inborn pyridoxine metabolic process disorder	http://purl.obolibrary.org/obo/MONDO_0019237	UMLS:CN227600|Orphanet:79192	disease_grouping|ordo_group_of_disorders
MONDO:0019232	biolink:Disease	inborn disorder of peptide metabolism		UMLS:CN227597|Orphanet:79187	mondo.json	disorder of peptide metabolism	http://purl.obolibrary.org/obo/MONDO_0019232	UMLS:CN227597|Orphanet:79187	disease_grouping|ordo_group_of_disorders
MONDO:0019231	biolink:Disease	inborn disorder of pentose phosphate metabolism		UMLS:CN227596|Orphanet:79186	mondo.json	disorder of pentose phosphate metabolism	http://purl.obolibrary.org/obo/MONDO_0019231	UMLS:CN227596|Orphanet:79186	disease_grouping|ordo_group_of_disorders
MONDO:0019234	biolink:Disease	peroxisome biogenesis disorder	Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD).	SCTID:742876007|NCIT:C146639|DOID:0080377|GARD:0009473|OMIMPS:214100|MESH:C536664|GARD:0011890|Orphanet:79189|MESH:C531857	mondo.json	PBD-ZSD|Zellweger spectrum disorders|ZSD|peroxisomal biogenesis disorders|disorders of peroxisome biogenesis|peroxisome biogenesis disorders, Zellweger syndrome spectrum|peroxisome biogenesis disorder spectrum|peroxisomal biogenesis disorders, Zellweger syndrome spectrum|Zellweger syndrome spectrum|PBD-Zellweger spectrum disorder|PBD-ZSS|peroxisome biogenesis disorder|Zellweger spectrum disorder|cerebrohepatorenal syndrome|PBD, ZSS|Zellweger spectrum|peroxisome biogenesis disorder-Zellweger syndrome spectrum	http://purl.obolibrary.org/obo/MONDO_0019234	https://omim.org/phenotypicSeries/PS214100|http://identifiers.org/mesh/C531857|DOID:0080377|NCIT:C146639|http://identifiers.org/mesh/C536664|Orphanet:79189|http://identifiers.org/snomedct/742876007	disease_grouping|ordo_group_of_disorders
MONDO:0019233	biolink:Disease	disorder of peroxisomal beta oxidation		UMLS:CN227598|GARD:0012470|Orphanet:79188	mondo.json	disorder of peroxisomal beta oxidation	http://purl.obolibrary.org/obo/MONDO_0019233	UMLS:CN227598|Orphanet:79188	disease_grouping|ordo_group_of_disorders|gard_rare
MONDO:0022871	biolink:Disease	corpus callosum agenesis of blepharophimosis robin type		GARD:0001538	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022871		gard_rare
MONDO:0022872	biolink:Disease	corpus callosum dysgenesis X-linked recessive		GARD:0001543	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022872		gard_rare
MONDO:0022873	biolink:Disease	corpus callosum dysgenesis cleft spasm		GARD:0001541	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022873		gard_rare
MONDO:0022874	biolink:Disease	corpus callosum dysgenesis hypopituitarism		GARD:0001542	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022874		gard_rare
MONDO:0022875	biolink:Disease	cortada Koussef Matsumoto syndrome		GARD:0001546	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022875		gard_rare
MONDO:0022876	biolink:Disease	Cortes Lacassie syndrome		GARD:0001547	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022876		gard_rare
MONDO:0010888	biolink:Disease	adenomyosis	The growth of endometrial tissue inside the muscular wall of the uterine corpus. Clinical manifestations include pain, dysmenorrhea, and menorrhagia.	OMIM:600458|NCIT:C6996|SCTID:237115002|UMLS:C0341858|MESH:D062788|ICD10CM:N80.0|DOID:288|EFO:1001757|ICD9:617.0|GARD:0008156	mondo.json	endometriosis of myometrium|uterine adenomyosis|endometriosis interna|myometrium endometriosis (disease)|endometriosis, myometrium|uterine corpus adenomyosis|adenomyosis of uterus|adenomyosis of the uterus|uterus corpus adenomyosis|endometriosis of uterus|endometriosis (disease) of myometrium	http://purl.obolibrary.org/obo/MONDO_0010888	DOID:288|http://identifiers.org/snomedct/237115002|UMLS:C0341858|http://purl.bioontology.org/ontology/ICD10CM/N80.0|NCIT:C6996|https://omim.org/entry/600458|http://identifiers.org/mesh/D062788	
MONDO:0020214	biolink:Disease	posterior corneal dystrophy	Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy.	UMLS:CN227822|UMLS:C2063478|SCTID:35091000119101|ICD9:371.58|Orphanet:98627	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020214	Orphanet:98627|http://identifiers.org/snomedct/35091000119101|UMLS:C2063478|UMLS:CN227822	disease_grouping|ordo_group_of_disorders
MONDO:0007258	biolink:Disease	canine teeth, absence of upper permanent		OMIM:114600|UMLS:C1861899	mondo.json	canine teeth, absence of upper permanent	http://purl.obolibrary.org/obo/MONDO_0007258	UMLS:C1861899|https://omim.org/entry/114600	
MONDO:0020213	biolink:Disease	stromal corneal dystrophy	The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.	DOID:0060442|SCTID:231931001|ICD9:371.56|UMLS:C0038457|Orphanet:98626	mondo.json	substantia propria of cornea corneal dystrophy (disease)|stromal dystrophy|corneal stromal dystrophy|corneal dystrophy (disease) of substantia propria of cornea	http://purl.obolibrary.org/obo/MONDO_0020213	http://identifiers.org/snomedct/231931001|UMLS:C0038457|Orphanet:98626|DOID:0060442	ordo_group_of_disorders|disease_grouping
MONDO:0010887	biolink:Disease	isolated anterior cervical hypertrichosis	Anterior cervical hypertrichosis is a rare form of localised hypertrichosis characterised by hair growth near the laryngeal prominence during childhood.	MESH:C538390|GARD:0008438|UMLS:C1838123|SCTID:717963001|Orphanet:3387|OMIM:600457	mondo.json	anterior cervical hypertrichosis|hairy throat|Tsukahara-Kajii syndrome|Tsukahara Kajii syndrome|hairy throat syndrome|hypertrichosis, anterior cervical	http://purl.obolibrary.org/obo/MONDO_0010887	UMLS:C1838123|http://identifiers.org/snomedct/717963001|https://omim.org/entry/600457|Orphanet:3387|http://identifiers.org/mesh/C538390	ordo_disease|gard_rare
MONDO:0007259	biolink:Disease	craniofaciofrontodigital syndrome	Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).	UMLS:C2676032|OMIM:114620|Orphanet:363705|MESH:C567298|SCTID:763320005	mondo.json	craniofaciofrontodigital syndrome|Cantu craniofaciofrontodigital syndrome	http://purl.obolibrary.org/obo/MONDO_0007259	UMLS:C2676032|http://identifiers.org/mesh/C567298|Orphanet:363705|http://identifiers.org/snomedct/763320005|https://omim.org/entry/114620	ordo_disease
MONDO:0020212	biolink:Disease	superficial corneal dystrophy	The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy.	Orphanet:98625|ICD9:371.52|SCTID:430888006|UMLS:C2315777	mondo.json	corneal epithelium corneal dystrophy (disease)|anterior corneal dystrophy|dystrophy of anterior cornea	http://purl.obolibrary.org/obo/MONDO_0020212	Orphanet:98625|UMLS:C2315777|http://identifiers.org/snomedct/430888006	ordo_group_of_disorders|disease_grouping
MONDO:0007256	biolink:Disease	hepatocellular carcinoma	A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation.	MESH:D006528|OMIM:114550|ONCOTREE:HCC|NCIT:C3099|DOID:686|MedDRA:10049010|EFO:0000182|DOID:684|ICDO:8170/3|Orphanet:88673	mondo.json	hepatocellular carcinoma, somatic|hepatoblastoma caused by somatic mutation|liver cancer|hepatoblastoma, somatic|carcinoma, hepatocellular, malignant|hepatocellular carcinoma|adult primary hepatocellular carcinoma|hepatocellular carcinoma, childhood type, somatic|hepatoblastoma|liver and intrahepatic bile duct carcinoma|carcinoma of the liver cells|carcinoma of liver cells|hepatocellular adenocarcinoma|primary carcinoma of the liver cells|carcinoma of liver|hepatoma|hepatocellular cancer, somatic|hepatocellular cancer|primary carcinoma of liver cells|liver cell carcinoma|liver cell cancer (hepatocellular carcinoma)|HCC|liver carcinoma|cancer, hepatocellular|adult hepatoma	http://purl.obolibrary.org/obo/MONDO_0007256	DOID:684|DOID:686|http://identifiers.org/mesh/D006528|https://omim.org/entry/114550|NCIT:C3099|Orphanet:88673	ordo_disease
MONDO:0007257	biolink:Disease	candidiasis, familial, 1		MESH:C567779|OMIM:114580|UMLS:C2751429	mondo.json	candidiasis, familial, 1, autosomal dominant|candidiasis, familial, 1|candidiasis, familial chronic mucocutaneous, autosomal dominant, with or without thyroid disease|Cmct|CANDF1	http://purl.obolibrary.org/obo/MONDO_0007257	http://identifiers.org/mesh/C567779|UMLS:C2751429|https://omim.org/entry/114580	
MONDO:0020211	biolink:Disease	syndromic keratoconus	A keratoconus (disease) that is part of a larger syndrome.	UMLS:CN227821|Orphanet:98623	mondo.json	syndrome associated with keratoconus (disease)|syndromic keratoconus (disease)	http://purl.obolibrary.org/obo/MONDO_0020211	Orphanet:98623|UMLS:CN227821	disease_grouping|ordo_group_of_disorders
MONDO:0010889	biolink:Disease	arterial dissection-lentiginosis syndrome	Arterial dissection-lentiginosis is a rare association syndrome, reported in several members of two families to date, and characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).	Orphanet:1682|MESH:C563937|UMLS:C1838122|OMIM:600459	mondo.json	arterial dissection with lentiginosis	http://purl.obolibrary.org/obo/MONDO_0010889	Orphanet:1682|UMLS:C1838122|http://identifiers.org/mesh/C563937|https://omim.org/entry/600459	ordo_malformation_syndrome
MONDO:0007254	biolink:Disease	breast cancer	A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males.	OMIM:600048|ICD10CM:C50|NCIT:C9335|OMIM:605365|SCTID:254837009|ICD9:174.8|DOID:1612	mondo.json	malignant tumor of the breast|primary breast cancer|malignant tumor of breast|mammary tumor|malignant neoplasm of breast|cancer of breast|malignant breast tumor|malignant neoplasm of the breast|malignant breast neoplasm|breast cancer|breast tumor|mammary neoplasm|mammary cancer	http://purl.obolibrary.org/obo/MONDO_0007254	NCIT:C9335|http://purl.bioontology.org/ontology/ICD10CM/C50|DOID:1612|http://identifiers.org/snomedct/254837009	
MONDO:0020210	biolink:Disease	syndromic hyperopia	A hyperopia that is part of a larger syndrome.	UMLS:CN227820|Orphanet:98622	mondo.json	syndromic hyperopia|syndrome associated with hyperopia	http://purl.obolibrary.org/obo/MONDO_0020210	Orphanet:98622|UMLS:CN227820	ordo_group_of_disorders|disease_grouping
MONDO:0007255	biolink:Disease	obsolete colorectal cancer			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007255		
MONDO:0007252	biolink:Disease	Gordon syndrome	An extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.	OMIM:114300|Orphanet:376|GARD:0002553|UMLS:C0220666|ICD9:579.8|SCTID:237850008|MESH:C537288	mondo.json	camptodactyly-cleft palate-clubfoot syndrome|arthrogryposis multiplex congenita, distal, type 2A|distal arthrogryposis type 3|DA3|distal arthrogryposis type IIA|arthrogryposis distal type 3|arthrogryposis, distal, type 3|camptodactyly, cleft palate, and clubfoot|Gordon syndrome	http://purl.obolibrary.org/obo/MONDO_0007252	http://identifiers.org/mesh/C537288|Orphanet:376|https://omim.org/entry/114300|UMLS:C0220666|http://identifiers.org/snomedct/237850008	gard_rare|ordo_malformation_syndrome
MONDO:0007253	biolink:Disease	cancer, familial, with in vitro Radioresistance		MESH:C566179|OMIM:114450|UMLS:C1861915	mondo.json	cancer, familial, with in vitro RADIORESISTANCE	http://purl.obolibrary.org/obo/MONDO_0007253	http://identifiers.org/mesh/C566179|UMLS:C1861915|https://omim.org/entry/114450	
MONDO:0007250	biolink:Disease	camptodactyly of fingers	Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.	OMIM:114200|MESH:C536852|Orphanet:295016|GARD:0009448|ICD9:755.59|MESH:C567780|SCTID:29271008	mondo.json	camptodactyly and knuckle pads|minor streblomicrodactyly, familial|streblodactyly|camptodactyly 1|CAMPD1|crooked little finger, familial|familial streblodactyly	http://purl.obolibrary.org/obo/MONDO_0007250	http://identifiers.org/mesh/C567780|http://identifiers.org/snomedct/29271008|Orphanet:295016|http://identifiers.org/mesh/C536852|https://omim.org/entry/114200	ordo_morphological_anomaly|gard_rare
MONDO:0010891	biolink:Disease	lethal hemolytic anemia-genital anomalies syndrome	Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin.	Orphanet:1046|OMIM:600461|MESH:C563935|GARD:0002642|UMLS:C1838120	mondo.json	water-West syndrome|hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities|hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities	http://purl.obolibrary.org/obo/MONDO_0010891	http://identifiers.org/mesh/C563935|https://omim.org/entry/600461|Orphanet:1046|UMLS:C1838120	ordo_malformation_syndrome
MONDO:0007251	biolink:Disease	campomelic dysplasia	Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).	GARD:0010027|UMLS:C1861923|ICD9:733.29|DOID:0050463|UMLS:C1861922|SCTID:74928006|Orphanet:140|OMIM:114290|NCIT:C84609|MESH:D055036	mondo.json	CMPD1|Cmpd|CMD|Cmpd1/Sra1|campomelic dwarfism|campomelic dysplasia|campomelic dysplasia with autosomal Sex reversal|acampomelic campomelic dysplasia with autosomal Sex reversal|Cmd1|camptomelic dysplasia|acampomelic campomelic dysplasia	http://purl.obolibrary.org/obo/MONDO_0007251	Orphanet:140|UMLS:C1861922|UMLS:C1861923|DOID:0050463|https://omim.org/entry/114290|http://identifiers.org/snomedct/74928006|NCIT:C84609|http://identifiers.org/mesh/D055036	ordo_malformation_syndrome
MONDO:0010890	biolink:Disease	acrocardiofacial syndrome	Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.	OMIM:600460|MESH:C563936|UMLS:C1838121|Orphanet:2008|GARD:0001167	mondo.json	CCGE syndrome|cleft palate, CARDIAC defect, genital anomalies, and ectrodactyly|cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome|CCGE|acrocardiofacial syndrome|ACFS	http://purl.obolibrary.org/obo/MONDO_0010890	http://identifiers.org/mesh/C563936|https://omim.org/entry/600460|Orphanet:2008|UMLS:C1838121	ordo_malformation_syndrome|gard_rare
MONDO:0010893	biolink:Disease	malignant hyperthermia, susceptibility to, 4		MESH:C535697|GARD:0003366|OMIM:600467	mondo.json	malignant hyperthermia susceptibility type 4|malignant hyperthermia susceptibility 4|malignant hyperthermia, susceptibility to, 4|malignant hyperthermia, susceptibility to, type 4|Mhs4|malignant hyperpyrexia susceptibility type 4|MHS4	http://purl.obolibrary.org/obo/MONDO_0010893	http://identifiers.org/mesh/C535697|https://omim.org/entry/600467	gard_rare|predisposition
MONDO:0020209	biolink:Disease	obsolete rare hyperopia and astigmatism		Orphanet:98621|UMLS:CN227819	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020209	UMLS:CN227819|Orphanet:98621	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0020208	biolink:Disease	obsolete syndromic myopia	OBSOLETE. A myopia (disease) that is part of a larger syndrome.	Orphanet:98620|UMLS:CN227818	mondo.json	syndromic myopia (disease)|syndrome associated with myopia (disease)	http://purl.obolibrary.org/obo/MONDO_0020208	UMLS:CN227818|Orphanet:98620	ordo_group_of_disorders
MONDO:0010892	biolink:Disease	obsolete mitochondrial myopathy and sideroblastic anemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010892		
MONDO:0010895	biolink:Disease	ABCD syndrome	An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB).	Orphanet:918|MESH:C535334|UMLS:C1838099|UMLS:CN206498|OMIM:600501|DOID:0050600	mondo.json	albinism, black lock, cell migration disorder of the Neurocytes of the gut, and deafness|ABCDS|albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness|ABCD syndrome	http://purl.obolibrary.org/obo/MONDO_0010895	DOID:0050600|http://identifiers.org/mesh/C535334|UMLS:CN206498|https://omim.org/entry/600501|UMLS:C1838099	
MONDO:0019229	biolink:Disease	inborn disorder of ketolysis	An inherited metabolic disease that is has its basis in the disruption of ketone body catabolic process.	UMLS:CN227594|Orphanet:79183	mondo.json	disorder of ketolysis|inborn ketone body catabolic process disorder|rare inborn error of ketone body catabolic process|inborn error of ketone body catabolic process	http://purl.obolibrary.org/obo/MONDO_0019229	UMLS:CN227594|Orphanet:79183	disease_grouping|ordo_group_of_disorders
MONDO:0020207	biolink:Disease	obsolete rare isolated myopia	OBSOLETE. Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness.	UMLS:C0027092|UMLS:CN924920|Orphanet:98619	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020207	UMLS:CN924920|Orphanet:98619	obsoletion_candidate|ordo_disease
MONDO:0019228	biolink:Disease	inborn disorder of histidine metabolism	An inherited metabolic disease that is has its basis in the disruption of histidine metabolic process.	ICD10CM:E70.40|DOID:9265|UMLS:C0268512|Orphanet:79181|ICD9:270.5|SCTID:44176004	mondo.json	inborn disorder of histidine metabolism|histidine metabolism disease|disorder of histidine metabolism|rare inborn error of histidine metabolic process|disturbances of histidine metabolism|inborn error of histidine metabolic process|inborn histidine metabolic process disorder|inborn error of histidine metabolism	http://purl.obolibrary.org/obo/MONDO_0019228	Orphanet:79181|http://purl.bioontology.org/ontology/ICD10CM/E70.40|DOID:9265	ordo_group_of_disorders|disease_grouping
MONDO:0010894	biolink:Disease	maturity-onset diabetes of the young type 3	Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha.	OMIM:600496|SCTID:609570008|DOID:0111102|MESH:C563933|GARD:0010658|UMLS:C1838100|NCIT:C129742	mondo.json	HNF1A maturity-onset diabetes of the young (disease)|MODY3|maturity-onset diabetes of the young, type 3|MODY, type III|maturity-onset diabetes of the young type 3|type 3 maturity-onset diabetes of the young|HNF1A-associated monogenic diabetes|diabetes mellitus MODY type 3|MODY type 3|MODY, type 3|MODY hepatocyte nuclear factor-1-alpha related|maturity-onset diabetes of the young (disease) caused by mutation in HNF1A|hepatocyte nuclear Factor 1-Alpha-associated monogenic diabetes	http://purl.obolibrary.org/obo/MONDO_0010894	http://identifiers.org/mesh/C563933|https://omim.org/entry/600496|http://identifiers.org/snomedct/609570008|DOID:0111102|NCIT:C129742|UMLS:C1838100	gard_rare
MONDO:0020206	biolink:Disease	obsolete rare refraction anomaly		Orphanet:98618	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020206	Orphanet:98618	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0010897	biolink:Disease	schizophrenia 3	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23.	UMLS:C1838069|DOID:0070079|OMIM:600511	mondo.json	schizophrenia 3|schizophrenia susceptibility locus, chromosome 6-related|schizophrenia 3 with or without an affective disorder|SCZD3	http://purl.obolibrary.org/obo/MONDO_0010897	UMLS:C1838069|DOID:0070079|https://omim.org/entry/600511	
MONDO:0020205	biolink:Disease	bulbar conjunctival dermoid or conjunctival dermolipoma		Orphanet:98617	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020205	Orphanet:98617	disease_grouping|ordo_group_of_disorders
MONDO:0010896	biolink:Disease	pigment dispersion syndrome	Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance. At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed.	GARD:0004356|MESH:C563184|SCTID:392133001|DOID:0060680|Orphanet:26823|OMIM:600510|UMLS:C1271398	mondo.json	glaucoma, pigment-dispersion type|pigment-dispersion syndrome|pigment-dispersion type glaucoma|pigment dispersion syndrome|glaucoma-related pigment dispersion syndrome|glaucoma-RELATED pigment dispersion syndrome|GPDS1	http://purl.obolibrary.org/obo/MONDO_0010896	Orphanet:26823|http://identifiers.org/mesh/C563184|DOID:0060680|https://omim.org/entry/600510|UMLS:C1271398|http://identifiers.org/snomedct/392133001	gard_rare
MONDO:0020204	biolink:Disease	conjunctival tumor	A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma.	Orphanet:98616|NCIT:C2961	mondo.json	conjunctival neoplasm|neoplasm of conjunctiva|conjunctiva tumor|tumor of the conjunctiva|conjunctival tumor|conjunctiva neoplasm (disease)|conjunctival neoplasms|conjunctiva neoplasm|tumor of conjunctiva|neoplasm of the conjunctiva	http://purl.obolibrary.org/obo/MONDO_0020204	NCIT:C2961|Orphanet:98616	disease_grouping|ordo_group_of_disorders
GO:0042359	biolink:NamedThing	vitamin D metabolic process	The chemical reactions and pathways involving vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3).		mondo.json	cholecalciferol metabolism|ergocalciferol metabolism|ergocalciferol metabolic process|cholecalciferol metabolic process|calciferol metabolic process|vitamin D metabolism|calciferol metabolism	http://purl.obolibrary.org/obo/GO_0042359		
MONDO:0019225	biolink:Disease	disorder of gluconeogenesis	An inherited metabolic disease that is has its basis in the disruption of gluconeogenesis.	UMLS:CN227592|Orphanet:79177	mondo.json	inborn gluconeogenesis disorder|rare inborn error of gluconeogenesis|inborn error of gluconeogenesis|gluconeogenesis disorder	http://purl.obolibrary.org/obo/MONDO_0019225	UMLS:CN227592|Orphanet:79177	disease_grouping|ordo_group_of_disorders
MONDO:0022866	biolink:Disease	corneal dystrophy pigmentary anomaly malabsorption		GARD:0001530	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022866		gard_rare
MONDO:0019224	biolink:Disease	inborn disorder of gamma-aminobutyric acid metabolism	An inherited metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process.	UMLS:CN227591|Orphanet:79175	mondo.json	disorder of gamma-aminobutyric acid metabolism|disorder of GABA metabolism|inborn gamma-aminobutyric acid metabolic process disorder|rare inborn error of gamma-aminobutyric acid metabolic process|inborn error of gamma-aminobutyric acid metabolic process	http://purl.obolibrary.org/obo/MONDO_0019224	UMLS:CN227591|Orphanet:79175	disease_grouping|ordo_group_of_disorders
MONDO:0019227	biolink:Disease	inborn disorder of glycerol metabolism	An inherited metabolic disease that is has its basis in the disruption of glycerol metabolic process.	Orphanet:79179|UMLS:C0342762	mondo.json	disorder of glycerol metabolism|inborn glycerol metabolic process disorder|inborn error of glycerol metabolic process|rare inborn error of glycerol metabolic process	http://purl.obolibrary.org/obo/MONDO_0019227	Orphanet:79179	disease_grouping|ordo_group_of_disorders
MONDO:0022869	biolink:Disease	coronary arteries congenital malformation		GARD:0001534	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022869		gard_rare
MONDO:0019226	biolink:Disease	glucose transport disorder	An inherited metabolic disease that is has its basis in the disruption of glucose transport.	UMLS:CN227593|Orphanet:79178	mondo.json	inborn error of glucose transport|rare inborn error of glucose transport	http://purl.obolibrary.org/obo/MONDO_0019226	UMLS:CN227593|Orphanet:79178	disease_grouping|ordo_group_of_disorders
MONDO:0019221	biolink:Disease	obsolete creatine deficiency syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019221		
MONDO:0019220	biolink:Disease	inborn disorder of cobalamin metabolism and transport		Orphanet:79171|UMLS:CN043592|UMLS:CN227587	mondo.json	inborn disorder of cobalamin metabolism and transport|disorder of cobalamin metabolism and transport	http://purl.obolibrary.org/obo/MONDO_0019220	UMLS:CN227587|UMLS:CN043592|Orphanet:79171	disease_grouping|ordo_group_of_disorders
MONDO:0019223	biolink:Disease	disorder of fatty acid and ketone body metabolism		UMLS:CN227590|Orphanet:79174	mondo.json	inborn disorder of fatty acid oxidation and ketone body metabolism|disorder of fatty acid oxidation and ketone body metabolism	http://purl.obolibrary.org/obo/MONDO_0019223	UMLS:CN227590|Orphanet:79174	disease_grouping|ordo_group_of_disorders
HGNC:19750	biolink:NamedThing	TTC7A			mondo.json		http://identifiers.org/hgnc/19750		
MONDO:0019222	biolink:Disease	inborn disorder of methionine cycle and sulfur amino acid metabolism	An inherited metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process.	Orphanet:79173|ICD9:270.4|UMLS:CN227589|SCTID:28882002	mondo.json	cytosolic methyl group transfer or sulfur amino acid metabolism disorder|rare inborn error of sulfur amino acid metabolic process|inborn error of sulfur amino acid metabolic process|disorder of methionine cycle and sulfur amino acid metabolism|inborn sulfur amino acid metabolic process disorder	http://purl.obolibrary.org/obo/MONDO_0019222	UMLS:CN227589|Orphanet:79173|http://identifiers.org/snomedct/28882002	disease_grouping|ordo_group_of_disorders
MONDO:0009929	biolink:Disease	neonatal acute respiratory distress due to SP-B deficiency		GARD:0004595|UMLS:C1968602|Orphanet:217563|OMIM:265120|MESH:C566882	mondo.json	interstitial lung disease due to surfactant Protein B deficiency|surfactant metabolism dysfunction, pulmonary, type 1|surfactant metabolism dysfunction, pulmonary, 1|SMDP1|interstitial lung disease, nonspecific, due to surfactant Protein B deficiency|neonatal acute respiratory distress due to surfactant protein B deficiency|pulmonary surfactant protein B, deficiency of|pulmonary alveolar proteinosis, congenital, 1	http://purl.obolibrary.org/obo/MONDO_0009929	UMLS:C1968602|Orphanet:217563|https://omim.org/entry/265120|http://identifiers.org/mesh/C566882	gard_rare|ordo_disease
MONDO:0010918	biolink:Disease	epilepsy, idiopathic generalized, susceptibility to, 1		ICD9:345.10|SCTID:36803009|MESH:C562694|OMIM:600669	mondo.json	epilepsy, idiopathic generalized, susceptibility to, 1|EIG|EIG1	http://purl.obolibrary.org/obo/MONDO_0010918	http://identifiers.org/snomedct/36803009|https://omim.org/entry/600669	predisposition
MONDO:0009928	biolink:Disease	pulmonary alveolar microlithiasis	Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner.	Orphanet:60025|UMLS:C0155912|OMIM:265100|MedDRA:10037315|SCTID:87153008|GARD:0011894|ICD10CM:J84.02|DOID:12117|ICD9:516.2|MESH:C562405	mondo.json	pulmonary alveolar microlithiasis	http://purl.obolibrary.org/obo/MONDO_0009928	UMLS:C0155912|http://identifiers.org/mesh/C562405|Orphanet:60025|http://purl.bioontology.org/ontology/ICD10CM/J84.02|https://omim.org/entry/265100|DOID:12117|http://identifiers.org/snomedct/87153008	ordo_disease|gard_rare
MONDO:0010917	biolink:Disease	chondrocalcinosis 1		OMIM:600668|GARD:0006048|MESH:C535938	mondo.json	chondrocalcinosis with early-onset osteoarthritis|chondrocalcinosis 1|CCAL1	http://purl.obolibrary.org/obo/MONDO_0010917	http://identifiers.org/mesh/C535938|https://omim.org/entry/600668	
MONDO:0009927	biolink:Disease	3MC syndrome 2	Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene.	EFO:1001977|OMIM:265050|Orphanet:2998|DOID:0060576|MESH:C535586	mondo.json	ptosis of eyelids with diastasis recti and hip dysplasia|3Mc syndrome type 2|COLEC11 3MC syndrome|oculo-skeletal-abdominal syndrome|3MC syndrome 2|Osa syndrome|Carnevale syndrome, formerly|3MC syndrome caused by mutation in COLEC11|Carnevale syndrome|3MC2|3MC syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0009927	Orphanet:2998|https://omim.org/entry/265050|http://identifiers.org/mesh/C535586|DOID:0060576	
MONDO:0009926	biolink:Disease	autosomal recessive multiple pterygium syndrome	A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant.	NCIT:C101039|GARD:0007111|ICD9:759.89|SCTID:80773006|Orphanet:2990|UMLS:CN203342|OMIM:265000	mondo.json	autosomal recessive non-lethal multiple pterygium syndrome|multiple pterygium syndrome, autosomal recessive|multiple pterygium syndrome nonlethal type|autosomal recessive multiple pterygium syndrome|Escobar variant multiple pterygium syndrome|multiple pterygium syndrome Escobar type|pterygium Universale|multiple pterygium syndrome, Nonlethal type|pterygium colli syndrome|multiple pterygium syndrome, ESCOBAR variant|multiple pterygium syndrome|pterygium syndrome|EVMPS|Escobar syndrome|pterygium universale	http://purl.obolibrary.org/obo/MONDO_0009926	UMLS:CN203342|http://identifiers.org/snomedct/80773006|Orphanet:2990|https://omim.org/entry/265000|NCIT:C101039	gard_rare|ordo_malformation_syndrome
MONDO:0010919	biolink:Disease	varicella, severe recurrent		MESH:C563458|OMIM:600670|UMLS:C1833487	mondo.json	varicella, severe recurrent	http://purl.obolibrary.org/obo/MONDO_0010919	UMLS:C1833487|http://identifiers.org/mesh/C563458|https://omim.org/entry/600670	
HGNC:2309	biolink:NamedThing	CPLX1			mondo.json		http://identifiers.org/hgnc/2309		
MONDO:0009925	biolink:Disease	autosomal recessive inherited pseudoxanthoma elasticum	An autosomal recessive form of PXE.	DOID:2738|MedDRA:10037150|OMIM:264800|NCIT:C85036|UMLS:C0033847|SCTID:72744008|SCTID:239140003|MESH:D011561|ICD9:757.39|SCTID:402782006|Orphanet:758	mondo.json	PXE, modifier of severity of|Gronblad-Strandberg syndrome|PXE|AR inherited pseudoxanthoma elasticum|pseudoxanthoma elasticum, modifier of severity of|Gronblad-Strandberg-Touraine syndrome|pseudoxanthoma elasticum|Gronblad Strandberg syndrome	http://purl.obolibrary.org/obo/MONDO_0009925	http://identifiers.org/snomedct/72744008|UMLS:C0033847|http://identifiers.org/snomedct/402782006|Orphanet:758|http://identifiers.org/mesh/D011561|NCIT:C85036|https://omim.org/entry/264800|DOID:2738	gard_rare|ordo_disease
MONDO:0009924	biolink:Disease	vitamin D-dependent rickets, type 1	Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.	SCTID:67049004|MESH:C562688|NCIT:C131073|Orphanet:289157	mondo.json	VDDR-I|vitamin D 1 Alpha-Hydroxylase deficiency|VDDR1|hypocalcemic vitamin D-dependent rickets|PDDRI|vitamin D dependency, type 1|vitamin D-dependency type I|pseudovitamin D-deficient rickets|VDDI|selective 1-alpha, 25-hydroxyvitamin D3 deficiency|1-alpha-hydroxylase deficiency|1 Alpha-hydroxylase deficiency|vitamin D-dependent rickets type 1|pseudo vitamin-D deficient rickets|vitamin D dependent rickets type I	http://purl.obolibrary.org/obo/MONDO_0009924	NCIT:C131073|Orphanet:289157|http://identifiers.org/snomedct/67049004|http://identifiers.org/mesh/C562688	ordo_disease
MONDO:0009923	biolink:Disease	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency	A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis.	GARD:0005680|MedDRA:10000029|SCTID:57514000|MESH:C535830|Orphanet:753|OMIM:264600|NCIT:C98699	mondo.json	5-alpha reductase deficiency|pseudovaginal perineoscrotal hypospadias|steroid 5-alpha-reductase deficiency|PPSH|familial incomplete Male pseudohermaphroditism, type 2|5 Alpha steroid reductase 2 deficiency|micropenis|46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency|Male pseudohermaphroditism due to 5-Alpha-reductase deficiency|3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency|Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency|46,XY DSD due to 5-alpha-reductase 2 deficiency	http://purl.obolibrary.org/obo/MONDO_0009923	http://identifiers.org/snomedct/57514000|Orphanet:753|http://identifiers.org/mesh/C535830|https://omim.org/entry/264600|NCIT:C98699	ordo_disease
MONDO:0009922	biolink:Disease	Pseudouridinuria and mental defect		MESH:C564864|UMLS:C1849648|OMIM:264500	mondo.json	Pseudouridinuria and mental defect	http://purl.obolibrary.org/obo/MONDO_0009922	http://identifiers.org/mesh/C564864|UMLS:C1849648|https://omim.org/entry/264500	
MONDO:0010910	biolink:Disease	enuresis, nocturnal, 1	Nocturnal enuresis with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder.	OMIM:600631	mondo.json	enuresis, nocturnal, 1|Bedwetting|ENUR1	http://purl.obolibrary.org/obo/MONDO_0010910	https://omim.org/entry/600631	
MONDO:0009921	biolink:Disease	holoprosencephaly-postaxial polydactyly syndrome	Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13.	SCTID:716091000|GARD:0000344|OMIM:264480|UMLS:C1849649|NCIT:C125418|Orphanet:2166|MESH:C535829	mondo.json	pseudo-trisomy 13 syndrome|holoprosencephaly polydactyly syndrome|holoprosencephaly-polydactyly syndrome|Young-Maders syndrome|PSEUDOTRISOMY 13 syndrome|pseudo trisomy 13 syndrome	http://purl.obolibrary.org/obo/MONDO_0009921	Orphanet:2166|http://identifiers.org/snomedct/716091000|http://identifiers.org/mesh/C535829|https://omim.org/entry/264480|UMLS:C1849649|NCIT:C125418	ordo_malformation_syndrome
MONDO:0009920	biolink:Disease	Acrootoocular syndrome	Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.	MESH:C564866|OMIM:264475|Orphanet:2980|SCTID:720410001|UMLS:C1849661	mondo.json	pseudopapilledema-blepharophimosis-hand anomalies syndrome|Aoo syndrome|acrootoocular syndrome|pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies	http://purl.obolibrary.org/obo/MONDO_0009920	Orphanet:2980|http://identifiers.org/snomedct/720410001|https://omim.org/entry/264475|http://identifiers.org/mesh/C564866|UMLS:C1849661	ordo_malformation_syndrome
MONDO:0010912	biolink:Disease	fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement	Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene.	MESH:C567572|OMIM:600638|UMLS:C2748801	mondo.json	congenital fibrosis of extraocular muscles caused by mutation in TUBB3|CFEOM3A|fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement|Feom3 locus|fibrosis of extraocular muscles, congenital, 3A|TUBB3 congenital fibrosis of extraocular muscles	http://purl.obolibrary.org/obo/MONDO_0010912	UMLS:C2748801|https://omim.org/entry/600638|http://identifiers.org/mesh/C567572	
MONDO:0010911	biolink:Disease	prolactin-producing pituitary gland adenoma	Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men.	EFO:1000496|NCIT:C3342|UMLS:C0033375|DOID:5394|MESH:D015175|ICDO:8271/0|SCTID:134209002|ICD10CM:D35.2|GARD:0004508|ICD10CM:E22.1|Orphanet:2965|OMIM:600634|MedDRA:10036832	mondo.json	pituitary gland prolactinoma|familial prolactinoma|prolactin secreting pituitary gland adenoma|prolactin-secreting pituitary adenoma|lactotroph adenoma|lactotrope adenoma|prolactin-producing pituitary gland adenoma|Forbes-Albright syndrome (formerly)|prolactin secreting pituitary adenoma|pituitary adenoma, prolactin-secreting|PRL producing pituitary gland adenoma|prolactinoma of the pituitary gland|prolactin secreting adenoma|prolactin producing pituitary gland adenoma|prolactin producing adenoma of the pituitary gland|prolactinoma of the pituitary|prolactin producing adenoma of pituitary gland|prolactin producing pituitary adenoma|prolactin producing adenoma of the pituitary|prolactinoma of pituitary|prolactin producing adenoma of pituitary|prolactin secreting adenoma of the pituitary gland|pituitary lactotrophic adenoma|prolactin secreting adenoma of pituitary gland|prolactinoma|prolactin secreting adenoma of the pituitary|prolactin secreting adenoma of pituitary|lactotroph cell adenoma|pituitary prolactinoma|prolactinoma, familial|PRL-secreting pituitary adenoma|PRLoma|prolactinoma of pituitary gland	http://purl.obolibrary.org/obo/MONDO_0010911	Orphanet:2965|http://identifiers.org/snomedct/134209002|UMLS:C0033375|https://omim.org/entry/600634|http://identifiers.org/mesh/D015175|NCIT:C3342|DOID:5394	ordo_disease
MONDO:0010914	biolink:Disease	carnitine palmitoyl transferase II deficiency, severe infantile form	The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.	Orphanet:228305|MESH:C563462|OMIM:600649|UMLS:C1833511	mondo.json	Carnitine Palmitoyltransferase 2 deficiency, hepatocardiomuscular|carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form|Carnitine Palmitoyltransferase 2 deficiency with hypoketotic hypoglycemia|CPT II deficiency, infantile|CPT 2 deficiency, hepatic|Cpt2 deficiency, infantile|Carnitine Palmitoyltransferase 2 deficiency, infantile|CPTII, hepatocardiomuscular form|CPTII, severe infantile form|CARNITINE PALMITOYLTRANSFERASE II deficiency, infantile|Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form|CPT2, hepatocardiomuscular form|Carnitine palmitoyl transferase deficiency type 2, severe infantile form|CPT2, severe infantile form	http://purl.obolibrary.org/obo/MONDO_0010914	http://identifiers.org/mesh/C563462|https://omim.org/entry/600649|Orphanet:228305|UMLS:C1833511	ordo_clinical_subtype
MONDO:0010913	biolink:Disease	Caroli disease	Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.	DOID:0050876|OMIM:600643|SCTID:717232005|UMLS:C1833541|MedDRA:10013003|EFO:1001286|NCIT:C84619|UMLS:C0162510|MESH:D016767|GARD:0006002|Orphanet:53035	mondo.json	CAROLI disease, isolated|cystic dilatation of the intrahepatic biliary tree|Caroli disease isolated|congenital polycystic dilatation of intrahepatic bile ducts	http://purl.obolibrary.org/obo/MONDO_0010913	http://identifiers.org/snomedct/717232005|UMLS:C0162510|DOID:0050876|Orphanet:53035|NCIT:C84619|https://omim.org/entry/600643|http://identifiers.org/mesh/D016767|UMLS:C1833541	ordo_malformation_syndrome|gard_rare
MONDO:0010916	biolink:Disease	polycystic kidney disease 3 with or without polycystic liver disease	Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene.	OMIM:600666|DOID:0110860|UMLS:C3887964	mondo.json	polycystic kidney disease type 3|Apkd3|Pkd3|autosomal dominant polycystic kidney disease caused by mutation in GANAB|polycystic kidney disease 3, autosomal dominant|polycystic kidney disease 3|PKD3|polycystic kidney disease, adult, type 3|polycystic kidney disease, adult, type III|polycystic kidney disease 3 with or without polycystic liver disease|polycystic kidney disease, type 3|GANAB autosomal dominant polycystic kidney disease	http://purl.obolibrary.org/obo/MONDO_0010916	UMLS:C3887964|DOID:0110860|https://omim.org/entry/600666	
MONDO:0010915	biolink:Disease	autosomal dominant nonsyndromic hearing loss 4A	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene.	MESH:C563460|OMIM:600652|UMLS:C1833503|DOID:0110573	mondo.json	autosomal dominant nonsyndromic deafness type 4A|MYH14 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 4A|autosomal dominant nonsyndromic deafness 4A|autosomal dominant deafness 4A|deafness, autosomal dominant 4a|autosomal dominant nonsyndromic deafness caused by mutation in MYH14|deafness, autosomal dominant 4|DFNA4A|deafness, autosomal dominant 4A	http://purl.obolibrary.org/obo/MONDO_0010915	DOID:0110573|http://identifiers.org/mesh/C563460|https://omim.org/entry/600652|UMLS:C1833503	
UBERON:0004141	biolink:AnatomicalEntity	heart tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004141		
UBERON:0004142	biolink:AnatomicalEntity	outflow tract septum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004142		
UBERON:0004140	biolink:AnatomicalEntity	primary heart field			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004140		
HGNC:4976	biolink:NamedThing	HLCS			mondo.json		http://identifiers.org/hgnc/4976		
HP:0100806	biolink:PhenotypicFeature	Sepsis	Systemic inflammatory response to infection.	UMLS:C0036690|MSH:D018805	mondo.json	Infection in blood stream	http://purl.obolibrary.org/obo/HP_0100806		
HGNC:2312	biolink:NamedThing	CPN1			mondo.json		http://identifiers.org/hgnc/2312		
UBERON:0004148	biolink:AnatomicalEntity	cardiac vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004148		
UBERON:0004145	biolink:AnatomicalEntity	outflow tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004145		
MONDO:0009919	biolink:Disease	peroxisomal acyl-CoA oxidase deficiency	Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.	GARD:0004543|UMLS:C1849678|ICD9:255.41|Orphanet:2971|SCTID:238069004|OMIM:264470|DOID:0050797|MESH:C536662	mondo.json	Pseudoneonatal adrenoleukodystrophy|peroxisomal acyl-coenzyme A oxidase|pseudo-NALD|ACOX1 deficiency|straight-chain acyl-Coa oxidase deficiency|peroxisomal acyl-CoA oxidase deficiency|Pseudoadrenoleukodystrophy|pseudo-neonatal adrenoleukodystrophy	http://purl.obolibrary.org/obo/MONDO_0009919	https://omim.org/entry/264470|UMLS:C1849678|http://identifiers.org/snomedct/238069004|Orphanet:2971|DOID:0050797|http://identifiers.org/mesh/C536662	ordo_disease
HP:0002493	biolink:PhenotypicFeature	Upper motor neuron dysfunction	A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs.	UMLS:C1839042|UMLS:C1504405	mondo.json	Pyramidal tract dysfunction|Corticospinal tract dysfunction	http://purl.obolibrary.org/obo/HP_0002493		
UBERON:0004146	biolink:AnatomicalEntity	His-Purkinje system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004146		
MONDO:0010907	biolink:Disease	familial hypertryptophanemia	Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.	MESH:C538393|Orphanet:2224|DOID:0111703|UMLS:C1833562|SCTID:721838005|GARD:0002871|UMLS:C2931837|OMIM:600627	mondo.json	HYPTRP|hypertryptophanemia, familial|familial hypertryptophanemia|hypertryptophanemia	http://purl.obolibrary.org/obo/MONDO_0010907	Orphanet:2224|http://identifiers.org/mesh/C538393|DOID:0111703|http://identifiers.org/snomedct/721838005|UMLS:C2931837|https://omim.org/entry/600627	ordo_disease|gard_rare
MONDO:0010906	biolink:Disease	orofacial cleft 11	Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene.	OMIM:600625|UMLS:C2677434|DOID:0080404	mondo.json	orofacial cleft caused by mutation in BMP4|cleft Lip, congenital Healed|orofacial cleft type 11|congenital Healed cleft lip|orofacial cleft 11|BMP4 orofacial cleft|OFC11|cleft lip with or without cleft palate, nonsyndromic, 11	http://purl.obolibrary.org/obo/MONDO_0010906	UMLS:C2677434|DOID:0080404|https://omim.org/entry/600625	
MONDO:0009939	biolink:Disease	pulmonic stenosis and congenital nephrosis		SCTID:236530006|OMIM:265600|MESH:C562895|UMLS:C0403552	mondo.json	pulmonic stenosis and congenital nephrosis	http://purl.obolibrary.org/obo/MONDO_0009939	http://identifiers.org/mesh/C562895|http://identifiers.org/snomedct/236530006|https://omim.org/entry/265600|UMLS:C0403552	
MONDO:0010909	biolink:Disease	UV-sensitive syndrome 1	Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene.	OMIM:600630|UMLS:C3551173	mondo.json	UVSS1|UV-sensitive syndrome type 1|UV-sensitive syndrome 1|ERCC6 UV-sensitive syndrome|UV-sensitive syndrome caused by mutation in ERCC6	http://purl.obolibrary.org/obo/MONDO_0010909	https://omim.org/entry/600630|UMLS:C3551173	
MONDO:0009938	biolink:Disease	pulmonic stenosis		GARD:0010071|OMIM:265500|UMLS:C1956257|HP:0001642	mondo.json	valvular pulmonic stenosis|pulmonic stenosis|pulmonic stenosis (disease)|pulmonary stenosis	http://purl.obolibrary.org/obo/MONDO_0009938	https://omim.org/entry/265500|UMLS:C1956257	
MONDO:0009937	biolink:Disease	pulmonary venoocclusive disease	A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension.	SCTID:89420002|UMLS:C0034091|MedDRA:10037458|OMIMPS:265450|Orphanet:31837|ICD9:416.8|GARD:0010153|NCIT:C85039|DOID:5453|MESH:D011668	mondo.json	pulmonary capillary hemangiomatosis|PVOD|pulmonary veno-occlusive disease|obstructive disease of the pulmonary veins	http://purl.obolibrary.org/obo/MONDO_0009937	DOID:5453|http://identifiers.org/snomedct/89420002|Orphanet:31837|https://omim.org/phenotypicSeries/PS265450|http://identifiers.org/mesh/D011668|NCIT:C85039|UMLS:C0034091	gard_rare|prototype_pattern|ordo_disease
MONDO:0010908	biolink:Disease	loose anagen syndrome	Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma.	MESH:D058247|SCTID:238735005|ICD9:704.8|DOID:0111702|Orphanet:168|GARD:0003287|UMLS:C0406468|OMIM:600628	mondo.json	loose anagen hair syndrome	http://purl.obolibrary.org/obo/MONDO_0010908	UMLS:C0406468|Orphanet:168|DOID:0111702|http://identifiers.org/snomedct/238735005|http://identifiers.org/mesh/D058247|https://omim.org/entry/600628	ordo_disease
MONDO:0009936	biolink:Disease	familial primary pulmonary hypoplasia	Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.	Orphanet:2257|OMIM:265430|SCTID:277656005|ICD9:748.5|UMLS:CN226916	mondo.json	pulmonary hypoplasia, primary|lung agenesis|primary pulmonary hypoplasia	http://purl.obolibrary.org/obo/MONDO_0009936	Orphanet:2257|UMLS:CN226916|https://omim.org/entry/265430|http://identifiers.org/snomedct/277656005	ordo_malformation_syndrome
MONDO:0009935	biolink:Disease	pulmonary hypertension, primary, autosomal recessive		OMIM:265400|MESH:C564862|UMLS:C1849552	mondo.json	pulmonary hypertension, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009935	https://omim.org/entry/265400|http://identifiers.org/mesh/C564862|UMLS:C1849552	
MONDO:0009934	biolink:Disease	alveolar capillary dysplasia with misalignment of pulmonary veins	A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.	SCTID:233815004|ICD10CM:P29.3|NCIT:C85006|MESH:C536590|ICD9:747.83|NCIT:C98809|EFO:1001103|Orphanet:210122|MESH:D010547|UMLS:C0031190|GARD:0008644|ICD9:747.49|DOID:13042|MedDRA:10054726|SCTID:447275002|OMIM:265380	mondo.json	alveolar capillary dysplasia|ACDMPV|alveolar capillary dysplasia with misalignment of pulmonary veins and Other congenital anomalies|congenital alveolar capillary dysplasia with misalignment of pulmonary veins|familial persistent pulmonary hypertension of the newborn|alveolar capillary dysplasia with misalignment of pulmonary vessels|fetal circulation|pulmonary hypertension, familial persistent of the newborn|persistent fetal circulation|alveolar capillary dysplasia with misalignment of pulmonary veins|alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies|congenital alveolar capillary dysplasia|persistent pulmonary hypertension of the newborn|alveolar capillary dysplasia with pulmonary venous misalignment	http://purl.obolibrary.org/obo/MONDO_0009934	UMLS:C0031190|http://identifiers.org/snomedct/447275002|http://purl.bioontology.org/ontology/ICD10CM/P29.3|DOID:13042|http://identifiers.org/mesh/C536590|https://omim.org/entry/265380|Orphanet:210122|http://identifiers.org/mesh/D010547|NCIT:C98809	ordo_disease|gard_rare
MONDO:0009933	biolink:Disease	congenital pulmonary lymphangiectasia	Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation.	OMIM:265300|MESH:C537727|NCIT:C99034|GARD:0009900|SCTID:45142002|Orphanet:2414|UMLS:C1849554	mondo.json	lymphangiomatosis pulmonary|lymphangiectasia pulmonary congenital|pulmonary lymphangiomatosis|pulmonary cystic lymphangiectasis|congenital pulmonary lymphangiectasis|lymphangiomatosis, pulmonary|lymphangiectasia, pulmonary, congenital|CPL	http://purl.obolibrary.org/obo/MONDO_0009933	http://identifiers.org/snomedct/45142002|Orphanet:2414|http://identifiers.org/mesh/C537727|NCIT:C99034|https://omim.org/entry/265300|UMLS:C1849554	gard_rare|ordo_disease
MONDO:0009932	biolink:Disease	pulmonary bullae causing pneumothorax		OMIM:265200|MESH:C564863|UMLS:C1849566	mondo.json	pulmonary bullae causing pneumothorax	http://purl.obolibrary.org/obo/MONDO_0009932	https://omim.org/entry/265200|http://identifiers.org/mesh/C564863|UMLS:C1849566	
HGNC:4978	biolink:NamedThing	HLX			mondo.json		http://identifiers.org/hgnc/4978		
MONDO:0009931	biolink:Disease	pulmonary atresia-intact ventricular septum syndrome	Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation.	Orphanet:1208|NCIT:C99032|GARD:0004600|OMIM:265150|SCTID:253590009|UMLS:C0344975|MESH:C562832	mondo.json	pulmonary atresia with intact ventricular septum|pulmonary valve atresia with intact ventricular septum	http://purl.obolibrary.org/obo/MONDO_0009931	Orphanet:1208|http://identifiers.org/snomedct/253590009|UMLS:C0344975|NCIT:C99032|https://omim.org/entry/265150|http://identifiers.org/mesh/C562832	ordo_morphological_anomaly
HGNC:4979	biolink:NamedThing	MNX1			mondo.json		http://identifiers.org/hgnc/4979		
MONDO:0009930	biolink:Disease	obsolete pulmonary arteriovenous malformation	OBSOLETE. Pulmonary arteriovenous malformation (PAVM) describes an anatomic communication between a pulmonary artery and a pulmonary vein leading to a right to left extracardiac shunt that can be asymptomatic or can lead to varying manifestations such as dyspnea, hemoptysis, and neurological symptoms.	GARD:0004584|OMIM:265140|SCTID:303070000|MedDRA:10037332|HP:0006548|NCIT:C99029|Orphanet:2038|MESH:C562404|UMLS:C0155675	mondo.json	pulmonar arteriovenous aneurysm|pulmonary arteriovenous fistula|arteriovenous fistula of pulmonary vessels|pulmonary arteriovenous fistulas|pulmonary AV fistula|pulmonary arteriovenous malformation|pulmonary arteriovenous malformation (disease)|pulmonary arterio-veinous fistula|PAVM	http://purl.obolibrary.org/obo/MONDO_0009930	https://omim.org/entry/265140|NCIT:C99029|UMLS:C0155675|http://identifiers.org/mesh/C562404|http://identifiers.org/snomedct/303070000|Orphanet:2038	ordo_morphological_anomaly
MONDO:0010901	biolink:Disease	HEC syndrome	HEC syndrome is characterised by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed.	MESH:C535855|GARD:0002620|Orphanet:2119|SCTID:721015008|UMLS:C1833607|OMIM:600559	mondo.json	HEC syndrome|communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts|hydrocephalus, endocardial fibroelastosis, and cataracts|hydrocephalus-endocardial fibroelastosis-cataract syndrome	http://purl.obolibrary.org/obo/MONDO_0010901	http://identifiers.org/snomedct/721015008|http://identifiers.org/mesh/C535855|https://omim.org/entry/600559|Orphanet:2119|UMLS:C1833607	gard_rare|ordo_malformation_syndrome
MONDO:0010900	biolink:Disease	intrauterine growth retardation with increased mitomycin c sensitivity		MESH:C536744|GARD:0005593|OMIM:600546	mondo.json	intrauterine growth retardation with increased mitomycin c sensitivity	http://purl.obolibrary.org/obo/MONDO_0010900	http://identifiers.org/mesh/C536744|https://omim.org/entry/600546	gard_rare
MONDO:0010903	biolink:Disease	craniosynostosis, Adelaide type		UMLS:C1833578|MESH:C563471|OMIM:600593	mondo.json	CRSA|craniosynostosis, Adelaide type	http://purl.obolibrary.org/obo/MONDO_0010903	UMLS:C1833578|http://identifiers.org/mesh/C563471|https://omim.org/entry/600593	
MONDO:0010902	biolink:Disease	spondyloepiphyseal dysplasia, Reardon type	Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.	Orphanet:163662|MESH:C563472|OMIM:600561|SCTID:718764004|UMLS:C1833603	mondo.json	spondyloepiphyseal dysplasia with atlantoaxial instability	http://purl.obolibrary.org/obo/MONDO_0010902	UMLS:C1833603|Orphanet:163662|http://identifiers.org/mesh/C563472|https://omim.org/entry/600561|http://identifiers.org/snomedct/718764004	ordo_disease
MONDO:0010905	biolink:Disease	cone-rod dystrophy 1		MESH:C563469|UMLS:C1833564|GARD:0010651|DOID:0111009|OMIM:600624	mondo.json	cone-rod dystrophy type 1|cone-rod retinal dystrophy-1|Crd1|CORD1|cone-rod dystrophy 1|CRD1	http://purl.obolibrary.org/obo/MONDO_0010905	UMLS:C1833564|DOID:0111009|http://identifiers.org/mesh/C563469|https://omim.org/entry/600624	gard_rare
MONDO:0010904	biolink:Disease	setting-Sun phenomenon, familial benign		OMIM:600598|MESH:C563470|UMLS:C1833577	mondo.json	setting-Sun phenomenon, familial benign	http://purl.obolibrary.org/obo/MONDO_0010904	UMLS:C1833577|http://identifiers.org/mesh/C563470|https://omim.org/entry/600598	
HGNC:4982	biolink:NamedThing	HMBS			mondo.json		http://identifiers.org/hgnc/4982		
UBERON:0004133	biolink:AnatomicalEntity	salivatory nucleus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004133		
GO:0019902	biolink:NamedThing	phosphatase binding	Binding to a phosphatase.		mondo.json		http://purl.obolibrary.org/obo/GO_0019902		
UBERON:0004130	biolink:AnatomicalEntity	cerebellar layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004130		
GO:0019900	biolink:NamedThing	kinase binding	Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group.		mondo.json		http://purl.obolibrary.org/obo/GO_0019900		
GO:0019901	biolink:NamedThing	protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.		mondo.json		http://purl.obolibrary.org/obo/GO_0019901		
HGNC:19857	biolink:NamedThing	ISCA2			mondo.json		http://identifiers.org/hgnc/19857		
UBERON:0004139	biolink:AnatomicalEntity	cardiogenic plate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004139		
HGNC:2323	biolink:NamedThing	CPS1			mondo.json		http://identifiers.org/hgnc/2323		
UBERON:0004136	biolink:AnatomicalEntity	intermediate tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004136		
UBERON:0006799	biolink:AnatomicalEntity	glandular epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006799		
HGNC:2321	biolink:NamedThing	CPOX			mondo.json		http://identifiers.org/hgnc/2321		
UBERON:0004134	biolink:AnatomicalEntity	proximal tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004134		
UBERON:0004135	biolink:AnatomicalEntity	distal tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004135		
MONDO:0009907	biolink:Disease	Prepapillary vascular loops		OMIM:264060|SCTID:424728002|MESH:C563287	mondo.json	Prepapillary vascular loops|preretinal vascular loops	http://purl.obolibrary.org/obo/MONDO_0009907	http://identifiers.org/mesh/C563287|https://omim.org/entry/264060|http://identifiers.org/snomedct/424728002	
MONDO:0009906	biolink:Disease	prenatal bowing		MESH:C564873|OMIM:264050	mondo.json	prenatal bowing	http://purl.obolibrary.org/obo/MONDO_0009906	http://identifiers.org/mesh/C564873|https://omim.org/entry/264050	
MONDO:0009905	biolink:Disease	urban-Rogers-Meyer syndrome	This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.	SCTID:716334004|MESH:C538276|UMLS:C0796189|OMIM:264010|Orphanet:3409|GARD:0005426	mondo.json	intellectual disability-short stature-hand contractures-genital anomalies syndrome|Prader-Willi habitus, osteopenia, and camptodactyly|urban-Rogers-Meyer syndrome|Prader-Willi habitus-osteopenia-camptodactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0009905	UMLS:C0796189|Orphanet:3409|http://identifiers.org/mesh/C538276|http://identifiers.org/snomedct/716334004|https://omim.org/entry/264010	ordo_malformation_syndrome
MONDO:0009904	biolink:Disease	Gitelman syndrome	Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.	DOID:0050450|SCTID:707756004|NCIT:C84730|OMIM:263800|MESH:D053579|ICD9:275.49|UMLS:C0268450|MedDRA:10062906|GARD:0008547|Orphanet:358	mondo.json	GTLMNS|Gitelman syndrome|Gitelman's syndrome|primary renal tubular hypokalemic hypomagnesemia with hypocalciuria|hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria|Potassium and magnesium depletion|familial hypokalemia-hypomagnesemia	http://purl.obolibrary.org/obo/MONDO_0009904	NCIT:C84730|https://omim.org/entry/263800|UMLS:C0268450|http://identifiers.org/snomedct/707756004|DOID:0050450|Orphanet:358|http://identifiers.org/mesh/D053579	ordo_disease|gard_rare
MONDO:0009903	biolink:Disease	postaxial acrofacial dysostosis	Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.	DOID:0111259|GARD:0008410|OMIM:263750|ICD9:759.89|MESH:C537680|SCTID:66038001|Orphanet:246|UMLS:C0265257	mondo.json	Mandibulfacial dysostosis with postaxial limb anomalies|Genee-Wiedemann syndrome|Wildervanck-Smith syndrome|POADS|postaxial acrofacial dysostosis|postaxial acrodysostosis|GWAFD|acrofacial dysostosis, Genee-Wiedmann type|Genee-Wiedemann acrofacial dysostosis|POADS syndrome|postaxial acrofacial dysostosis (POADS) syndrome|Miller syndrome	http://purl.obolibrary.org/obo/MONDO_0009903	https://omim.org/entry/263750|Orphanet:246|http://identifiers.org/mesh/C537680|UMLS:C0265257|http://identifiers.org/snomedct/66038001|DOID:0111259	ordo_malformation_syndrome
MONDO:0009902	biolink:Disease	cutaneous porphyria	Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.	SCTID:67312003|MESH:D017092|Orphanet:79277|DOID:13271|GARD:0004446|NCIT:C84697|OMIM:263700	mondo.json	uroporphyrinogen 3 synthase deficiency|Gunther disease|congenital porphyria|Uros deficiency|CEP|cutaneous porphyria|porphyria, congenital erythropoietic|congenital erythropoietic porphyria|erythropoietic porphyria|uroporphyrinogen III synthase, deficiency of|Günther disease|Cep	http://purl.obolibrary.org/obo/MONDO_0009902	http://identifiers.org/snomedct/67312003|http://identifiers.org/mesh/D017092|https://omim.org/entry/263700|NCIT:C84697|DOID:13271|Orphanet:79277	ordo_disease
MONDO:0034901	biolink:Disease	ATP13A2-related parkinsonism		Orphanet:514980	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034901	Orphanet:514980	ordo_group_of_disorders
MONDO:0009901	biolink:Disease	Bartsocas-Papas syndrome	Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.	UMLS:C1849718|Orphanet:1234|OMIM:263650|MESH:C564874|GARD:0004436|SCTID:722376008	mondo.json	lethal popliteal pterygium syndrome|popliteal pterygium syndrome, Bartsocas-Papas type 1|multiple pterygium syndrome, Aslan type|pterygium popliteal lethal type|autosomal recessive popliteal pterygium syndrome|Bartsocas Papas syndrome|BPS|popliteal pterygium syndrome lethal type|popliteal pterygium syndrome, Bartsocas-Papas type|pterygium, popliteal, lethal type|Bartsocas-Papas syndrome|popliteal pterygium syndrome, lethal type	http://purl.obolibrary.org/obo/MONDO_0009901	UMLS:C1849718|https://omim.org/entry/263650|Orphanet:1234|http://identifiers.org/snomedct/722376008|http://identifiers.org/mesh/C564874	ordo_malformation_syndrome
HGNC:2328	biolink:NamedThing	CPT1A			mondo.json		http://identifiers.org/hgnc/2328		
MONDO:0009900	biolink:Disease	polysyndactyly-cardiac malformation syndrome	Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts).	Orphanet:2934|OMIM:263630|MESH:C564875|GARD:0004428|UMLS:C1849719|SCTID:724066002	mondo.json	polysyndactyly cardiac malformation|polysyndactyly with CARDIAC malformation|Bonneau syndrome	http://purl.obolibrary.org/obo/MONDO_0009900	UMLS:C1849719|https://omim.org/entry/263630|http://identifiers.org/snomedct/724066002|Orphanet:2934|http://identifiers.org/mesh/C564875	ordo_malformation_syndrome
UBERON:0004121	biolink:AnatomicalEntity	ectoderm-derived structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004121		
UBERON:0004122	biolink:AnatomicalEntity	genitourinary system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004122		
HP:0002475	biolink:PhenotypicFeature	Myelomeningocele	Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.	SNOMEDCT_US:203994003|Fyler:4309|SNOMEDCT_US:414667000|UMLS:C0025312|MSH:D008591	mondo.json	Spina bifida cystica|Meningomyelocele	http://purl.obolibrary.org/obo/HP_0002475		
UBERON:0004120	biolink:AnatomicalEntity	mesoderm-derived structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004120		
HGNC:20800	biolink:NamedThing	SLC35D1			mondo.json		http://identifiers.org/hgnc/20800		
HGNC:2336	biolink:NamedThing	CR2			mondo.json		http://identifiers.org/hgnc/2336		
UBERON:0004128	biolink:AnatomicalEntity	optic vesicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004128		
HGNC:2334	biolink:NamedThing	CR1			mondo.json		http://identifiers.org/hgnc/2334		
UBERON:0004126	biolink:AnatomicalEntity	trabecular layer of ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004126		
UBERON:0004123	biolink:AnatomicalEntity	myocardial layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004123		
HGNC:2330	biolink:NamedThing	CPT2			mondo.json		http://identifiers.org/hgnc/2330		
UBERON:0004124	biolink:AnatomicalEntity	myocardium trabecular layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004124		
MONDO:0009918	biolink:Disease	fundus dystrophy, pseudoinflammatory, recessive form		UMLS:C1849694|GARD:0009633|MESH:C535828|OMIM:264420	mondo.json	Pfd, Lavia type|pseudoinflammatory fundus dystrophy|Pfd, Finnish type|PFD Lavia type|fundus dystrophy, pseudoinflammatory recessive form|fundus dystrophy, pseudoinflammatory, recessive form	http://purl.obolibrary.org/obo/MONDO_0009918	https://omim.org/entry/264420|UMLS:C1849694|http://identifiers.org/mesh/C535828	
MONDO:0009917	biolink:Disease	autosomal recessive pseudohypoaldosteronism type 1	Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.	GARD:0004552|OMIM:264350|DOID:0060854|Orphanet:171876	mondo.json	pseudohypoaldosteronism type 1 autosomal recessive|PHA1B|pseudohypoaldosteronism, type I, autosomal recessive|autosomal recessive PHA 1|pseudohypoaldosteronism type 1, recessive|PHA I, autosomal recessive|generalized pseudohypoaldosteronism type 1|generalized PHA1|autosomal recessive pseudohypoaldosteronism type 1	http://purl.obolibrary.org/obo/MONDO_0009917	DOID:0060854|Orphanet:171876|https://omim.org/entry/264350	gard_rare|ordo_clinical_subtype
MONDO:0009916	biolink:Disease	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.	NCIT:C120203|MESH:C564868|OMIM:264300|MESH:C537805|GARD:0005659|Orphanet:752|SCTID:50658006	mondo.json	Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency|17-KSR deficiency|17-ketoreductase deficiency|46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency|neutral 17 beta hydroxysteroid oxidoreductase deficiency|17-beta hydroxysteroid dehydrogenase 3 deficiency|pseudohermaphroditism, Male, with gynecomastia|17-beta-hydroxysteroid dehydrogenase 3 deficiency|17 beta hydroxysteroid dehydrogenase III deficiency|17-ketosteroid reductase deficiency of testis|17-Beta hydroxysteroid dehydrogenase 3 deficiency|neutral 17-Beta-hydroxysteroid oxidoreductase deficiency|polycystic ovary syndrome due to 17-ketosteroid reductase deficiency|17 alpha KSR deficiency|Male pseudoherma-phroditism with gynecomastia|polycystic ovarian disease due to 17-ketosteroid reductase deficiency|17 Beta HSD3 deficiency|17-BETA hydroxysteroid dehydrogenase III deficiency|17 beta HSD3 deficiency|17-ketosteroidreductase deficiency|17 alpha ketosteroid reductase deficiency of testis	http://purl.obolibrary.org/obo/MONDO_0009916	NCIT:C120203|http://identifiers.org/mesh/C537805|Orphanet:752|https://omim.org/entry/264300|http://identifiers.org/snomedct/50658006|http://identifiers.org/mesh/C564868	ordo_disease
MONDO:0009915	biolink:Disease	46,XX disorder of sex development-skeletal anomalies syndrome		MESH:C564869|UMLS:C1849696|Orphanet:2975|OMIM:264270	mondo.json	pseudohermaphroditism, female, with skeletal anomalies|female pseudohermaphroditism-skeletal anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0009915	UMLS:C1849696|Orphanet:2975|https://omim.org/entry/264270|http://identifiers.org/mesh/C564869	ordo_malformation_syndrome
MONDO:0009914	biolink:Disease	pseudodiastrophic dysplasia	Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.	Orphanet:85174|MESH:C535826|GARD:0009463|UMLS:C0432206|SCTID:254058002|ICD9:756.9|OMIM:264180	mondo.json	Pseudodiastrophic dwarfism|pseudodiastrophic dysplasia	http://purl.obolibrary.org/obo/MONDO_0009914	Orphanet:85174|http://identifiers.org/snomedct/254058002|UMLS:C0432206|https://omim.org/entry/264180|http://identifiers.org/mesh/C535826	ordo_malformation_syndrome|gard_rare
MONDO:0009913	biolink:Disease	prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness		SCTID:236529001|UMLS:C0403551|MESH:C562894|OMIM:264140	mondo.json	prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness|prune belly syndrome with pulmonic stenosis, mental retardation, and deafness	http://purl.obolibrary.org/obo/MONDO_0009913	http://identifiers.org/snomedct/236529001|http://identifiers.org/mesh/C562894|https://omim.org/entry/264140|UMLS:C0403551	
CHEBI:57934	biolink:ChemicalSubstance	psychosine(1+)	The ammonium ion resulting from the protonation of the amino group of psychosine.		mondo.json	(2S,3R,4E)-1-(beta-D-galactopyranosyloxy)-3-hydroxyoctadec-4-en-2-aminium|(2S,3R,4E)-3-hydroxy-1-{[(2R,3R,4S,5R,6R)-3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy}octadec-4-en-2-aminium|beta-D-galactosyl-(1<->1)-sphing-4-enine	http://purl.obolibrary.org/obo/CHEBI_57934		
MONDO:0009912	biolink:Disease	prolactin deficiency with obesity and enlarged testes		OMIM:264120|UMLS:C1849698|MESH:C564870	mondo.json	prolactin deficiency with obesity and enlarged testes|PRL deficiency with obesity and enlarged testes	http://purl.obolibrary.org/obo/MONDO_0009912	https://omim.org/entry/264120|http://identifiers.org/mesh/C564870|UMLS:C1849698	
MONDO:0009911	biolink:Disease	prolactin deficiency, isolated		SCTID:67873006|OMIM:264110|ICD9:253.4|MESH:C562708	mondo.json	prolactin deficiency, isolated	http://purl.obolibrary.org/obo/MONDO_0009911	http://identifiers.org/mesh/C562708|http://identifiers.org/snomedct/67873006|https://omim.org/entry/264110	
MONDO:0009910	biolink:Disease	Wiedemann-Rautenstrauch syndrome	Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.	NCIT:C121565|Orphanet:3455|MESH:C536423|GARD:0000330|ICD9:259.8|SCTID:238874008|OMIM:264090|UMLS:C0406586	mondo.json	neonatal progeroid syndrome|Wiedemann-Rautenstrauch syndrome|progeroid syndrome, neonatal|progeroid syndrome neonatal|Wiedemann Rautenstrauch syndrome	http://purl.obolibrary.org/obo/MONDO_0009910	Orphanet:3455|UMLS:C0406586|http://identifiers.org/snomedct/238874008|NCIT:C121565|http://identifiers.org/mesh/C536423|https://omim.org/entry/264090	ordo_malformation_syndrome
HGNC:2340	biolink:NamedThing	CRADD			mondo.json		http://identifiers.org/hgnc/2340		
UBERON:0004111	biolink:AnatomicalEntity	anatomical conduit			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004111		
HP:0002486	biolink:PhenotypicFeature	Myotonia	An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.	SNOMEDCT_US:3434004|UMLS:C0027125|MSH:D009222	mondo.json	Delayed relaxation of muscle fibers after contraction|Delayed relaxation of muscle fibres after contraction	http://purl.obolibrary.org/obo/HP_0002486		
NCBITaxon:66360	biolink:OrganismalEntity	Cochliomyia		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_66360		
OBO:ECTO_0002002	biolink:NamedThing	exposure to steroid	An exposure to steroid.		mondo.json	exposure to steroid	http://purl.obolibrary.org/obo/ECTO_0002002		
HGNC:2348	biolink:NamedThing	CREBBP			mondo.json		http://identifiers.org/hgnc/2348		
UBERON:0004118	biolink:AnatomicalEntity	vasculature of iris			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004118		
UBERON:0004119	biolink:AnatomicalEntity	endoderm-derived structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004119		
UBERON:0004116	biolink:AnatomicalEntity	nerve of tympanic cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004116		
CHEBI:18367	biolink:ChemicalSubstance	phosphate(3-)	A phosphate ion that is the conjugate base of hydrogenphosphate.		mondo.json	Orthophosphate|PHOSPHATE ION|tetraoxophosphate(3-)|tetraoxophosphate(V)|phosphate|tetraoxidophosphate(3-)|Phosphate|PO4(3-)|[PO4](3-)	http://purl.obolibrary.org/obo/CHEBI_18367		
HGNC:2345	biolink:NamedThing	CREB1			mondo.json		http://identifiers.org/hgnc/2345		
UBERON:0004117	biolink:AnatomicalEntity	pharyngeal pouch			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004117		
UBERON:0004114	biolink:AnatomicalEntity	tympanic cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004114		
UBERON:0004115	biolink:AnatomicalEntity	blood vessel of tympanic cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004115		
HGNC:2343	biolink:NamedThing	CRB1			mondo.json		http://identifiers.org/hgnc/2343		
MONDO:0009909	biolink:Disease	progesterone resistance		OMIM:264080|UMLS:C1849699|MESH:C564871	mondo.json	progesterone resistance|pseudocorpus luteum insufficiency	http://purl.obolibrary.org/obo/MONDO_0009909	https://omim.org/entry/264080|http://identifiers.org/mesh/C564871|UMLS:C1849699	
MONDO:0009908	biolink:Disease	pterin-4 alpha-carbinolamine dehydratase 1 deficiency	Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCBD1 is inherited in an autosomal recessive manner.	OMIM:264070|ICD9:277.6|MESH:C538382|GARD:0002843|Orphanet:1578|SCTID:124646004	mondo.json	pterin-4 alpha-carbinolamine dehydratase deficiency|CADH deficiency|hyperphenylalaninemia due to dehydratase deficiency|PCBD deficiency|hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency|hyperphenylalaninemia, Bh4-deficient, type D|pterin-4 alpha-carbinolamine dehydratase 1 deficiency|PCBD1 deficiency|hyperphenylalaninemia, BH4-deficient, D|tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency|hyperphenylalaninemia with primapterinuria|dehydratase deficiency|HPABH4D|PCD deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-Alpha-carbinolamine dehydratase deficiency	http://purl.obolibrary.org/obo/MONDO_0009908	https://omim.org/entry/264070|http://identifiers.org/mesh/C538382|http://identifiers.org/snomedct/124646004|Orphanet:1578	ordo_clinical_subtype
UBERON:0004113	biolink:AnatomicalEntity	muscle of auditory ossicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004113		
MONDO:0007308	biolink:Disease	Charcot-Marie-Tooth disease type 2A1	Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.	MESH:C566138|GARD:0001248|Orphanet:99946|SCTID:717016001|OMIM:118210|NCIT:C134952|DOID:0110154	mondo.json	Charcot-Marie-Tooth neuropathy type 2A1|Charcot-Marie-Tooth disease, axonal, type 2A1|hereditary motor and sensory neuropathy IIA1|CMT2A1|Charcot-Marie-Tooth disease type 2A|Charcot-Marie-Tooth disease, type 2A1|Charcot-Marie-Tooth disease, neuronal, type 2A|CMT2A|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A1|hereditary motor and sensory neuropathy 2 A|HMSN2A1|HMSN IIa1|Charcot-Marie-Tooth disease, axonal, type 2A|CMT 2A|Charcot-Marie-Tooth neuropathy, type 2A1|Charcot Marie Tooth disease type 2A|Charcot-Marie-Tooth disease neuronal type 2A1|autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1|KIF1B Charcot-Marie-Tooth disease type 2|autosomal dominant Charcot-Marie-Tooth disease type 2A1|hereditary motor and sensory neuropathy IIa1|HMSN IIA|Charcot-Marie-Tooth disease type 2A1|Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B|HMSN IIA1|Charcot-Marie-Tooth disease, neuronal, type 2A1	http://purl.obolibrary.org/obo/MONDO_0007308	http://identifiers.org/mesh/C566138|https://omim.org/entry/118210|Orphanet:99946|NCIT:C134952|http://identifiers.org/snomedct/717016001|DOID:0110154	ordo_disease|prototype_pattern|gard_rare
MONDO:0007309	biolink:Disease	Charcot-Marie-Tooth disease type 1A	Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications.	DECIPHER:29|UMLS:C0270911|GARD:0001245|DOID:0110148|NCIT:C75468|Orphanet:101081|OMIM:118220	mondo.json	Charcot-Marie-Tooth disease, type 1A|Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A|Charcot-Marie-Tooth neuropathy, type 1A|CMT 1A|Charcot Marie Tooth disease type 1A|autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A|Charcot-Marie-Tooth disease type 1A|Charcot-Marie-Tooth syndrome type 1A|HMSN 1A|Charcot-Marie-Tooth disease, demyelinating, type 1A|hereditary motor and sensory neuropathy 1A|microduplication 17p12|Charcot-Marie-Tooth neuropathy type 1A|HMSN1A|CMT1A	http://purl.obolibrary.org/obo/MONDO_0007309	https://omim.org/entry/118220|UMLS:C0270911|NCIT:C75468|DOID:0110148|Orphanet:101081	gard_rare|ordo_disease
MONDO:0007306	biolink:Disease	Klippel-Feil syndrome 1, autosomal dominant	Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene.	MESH:C536887|OMIM:118100|DOID:0080589|UMLS:C1861689	mondo.json	cervical vertebral fusion, autosomal dominant|KFS1|isolated Klippel-Feil syndrome caused by mutation in GDF6|GDF6 isolated Klippel-Feil syndrome|Klippel-FEIL syndrome 1, autosomal dominant|Klippel-Feil syndrome 1, autosomal dominant|Kfs	http://purl.obolibrary.org/obo/MONDO_0007306	https://omim.org/entry/118100|UMLS:C1861689|DOID:0080589|http://identifiers.org/mesh/C536887	
MONDO:0009969	biolink:Disease	renal-genital-middle ear anomalies		GARD:0004664|Orphanet:1092|MESH:C564849|OMIM:267400|UMLS:C1849432	mondo.json	renal genital middle ear anomalies|renal, genital, and middle EAR anomalies	http://purl.obolibrary.org/obo/MONDO_0009969	https://omim.org/entry/267400|UMLS:C1849432|http://identifiers.org/mesh/C564849|Orphanet:1092	ordo_malformation_syndrome|gard_rare
MONDO:0009968	biolink:Disease	renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss		OMIM:267300|GARD:0004666|ICD9:588.89|ICD9:389.8|UMLS:C4302514|UMLS:C0403554|MESH:C562897|SCTID:722468005|Orphanet:93611|SCTID:236532003	mondo.json	AR dRTA wth deafness|renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss|distal renal tubular acidosis 2 with progressive sensorineural hearing loss|autosomal recessive distal renal tubular acidosis with hearing loss|renal tubular acidosis with deafness|AR dRTA with hearing loss|renal tubular acidosis type 1b|autosomal recessive distal renal tubular acidosis with deafness|RTA with progressive nerve deafness|renal tubular acidosis, distal, with progressive nerve deafness|renal tubular acidosis progressive nerve deafness|renal tubular acidosis with progressive nerve deafness|renal tubular acidosis, autosomal recessive, with progressive nerve deafness|distal renal tubular acidosis co-occurrent with sensorineural deafness	http://purl.obolibrary.org/obo/MONDO_0009968	https://omim.org/entry/267300|UMLS:C0403554|UMLS:C4302514|http://identifiers.org/mesh/C562897|http://identifiers.org/snomedct/236532003|http://identifiers.org/snomedct/722468005	
MONDO:0007307	biolink:Disease	Charcot-Marie-Tooth disease type 1B	A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized.	OMIM:118200|UMLS:C0270912|GARD:0001246|Orphanet:101082|NCIT:C118782|DOID:0110152	mondo.json	hereditary motor and sensory neuropathy 1|HMSN1B|Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B|Charcot-Marie-Tooth neuropathy, type 1B|CMT 1B|Charcot Marie Tooth disease type 1B|Charcot-Marie-Tooth neuropathy type 1B|HMSN IB|Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy|hereditary motor and sensory neuropathy IB|Charcot-Marie-Tooth disease, demyelinating, type 1B|MPZ Charcot-Marie-Tooth disease type 1|HMSN 1B|HMSN1|hereditary motor and sensory neuropathy 1B|Charcot-Marie-Tooth disease, type 1B|CMT1B|Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy|Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ|autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B	http://purl.obolibrary.org/obo/MONDO_0007307	NCIT:C118782|https://omim.org/entry/118200|UMLS:C0270912|DOID:0110152|Orphanet:101082	ordo_disease
MONDO:0022940	biolink:Disease	obsolete deafness hyperuricemia neurologic ataxia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022940		
MONDO:0009967	biolink:Disease	renal tubular acidosis 3		OMIM:267200|GARD:0004670|MESH:C537759	mondo.json	RTA, bicarbonate-wasting type|renal tubular acidosis III|renal tubular acidosis 3|bicarbonate-wasting RTA|RTA, dislocation type|renal tubular acidosis, distal, type 3	http://purl.obolibrary.org/obo/MONDO_0009967	http://identifiers.org/mesh/C537759|https://omim.org/entry/267200	
MONDO:0022941	biolink:Disease	deafness hypospadias metacarpal and metatarsal syndrome		GARD:0001692	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022941		gard_rare
MONDO:0007304	biolink:Disease	cervical vertebral Bridge		OMIM:118000	mondo.json	cervical vertebral Bridge	http://purl.obolibrary.org/obo/MONDO_0007304	https://omim.org/entry/118000	
MONDO:0009966	biolink:Disease	NPHP3-related Meckel-like syndrome		OMIM:267010|MESH:C537756|DOID:0070121|GARD:0004665|Orphanet:3032|UMLS:C2673885|PMID:18371931	mondo.json	NPHP3-related Meckel-like syndrome|Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia|renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst|Meckel syndrome 7|Meckel syndrome type 7|Meckel-Gruber syndrome, type 7|Meckel-like syndrome type 1|renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome|MKS7|Goldston syndrome|Meckel syndrome, type 7	http://purl.obolibrary.org/obo/MONDO_0009966	http://identifiers.org/mesh/C537756|UMLS:C2673885|DOID:0070121|Orphanet:3032|https://omim.org/entry/267010	ordo_malformation_syndrome|gard_rare
MONDO:0007305	biolink:Disease	cervical vertebral dysplasia		OMIM:118005|MESH:C566140|UMLS:C1861693|HP:0008469	mondo.json	cervical vertebral dysplasia|cervical vertebral dysplasia (disease)	http://purl.obolibrary.org/obo/MONDO_0007305	http://identifiers.org/mesh/C566140|UMLS:C1861693|https://omim.org/entry/118005	
MONDO:0022942	biolink:Disease	deafness mesenteric diverticula of small bowel neuropathy		GARD:0001693	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022942		gard_rare
MONDO:0007302	biolink:Disease	cervical hypertrichosis with underlying kyphoscoliosis		OMIM:117850|UMLS:C1861695|MESH:C566142	mondo.json	cervical hypertrichosis with underlying kyphoscoliosis|hypertrichosis, posterior cervical, with underlying kyphoscoliosis	http://purl.obolibrary.org/obo/MONDO_0007302	UMLS:C1861695|https://omim.org/entry/117850|http://identifiers.org/mesh/C566142	
MONDO:0009965	biolink:Disease	Perlman syndrome	Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.	NCIT:C103144|MESH:C536399|DOID:0060476|SCTID:722231005|GARD:0003936|Orphanet:2849|OMIM:267000|UMLS:C0796113	mondo.json	nephroblastomatosis fetal ascites macrosomia and Wilms tumor|nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor|PRLMNS|nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor|renal hamartomas, nephroblastomatosis, and fetal gigantism|Perlman syndrome|nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor|renal hamartomas, nephroblastomatosis and fetal gigantism|nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome	http://purl.obolibrary.org/obo/MONDO_0009965	http://identifiers.org/mesh/C536399|DOID:0060476|UMLS:C0796113|https://omim.org/entry/267000|http://identifiers.org/snomedct/722231005|NCIT:C103144|Orphanet:2849	gard_rare|ordo_malformation_syndrome
MONDO:0010954	biolink:Disease	Wiskott-Aldrich syndrome, autosomal dominant form		OMIM:600903|UMLS:C1833170|MESH:C563431	mondo.json	Wiskott-Aldrich syndrome, autosomal dominant form	http://purl.obolibrary.org/obo/MONDO_0010954	http://identifiers.org/mesh/C563431|UMLS:C1833170|https://omim.org/entry/600903	
MONDO:0009964	biolink:Disease	short-rib thoracic dysplasia 9 with or without polydactyly	An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.	Orphanet:140969|SCTID:254092004|GARD:0008600|ICD9:759.89|DOID:0110097|OMIM:266920	mondo.json	renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia|renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome|SRTD9|Conorenal syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|Saldino-Mainzer syndrome|short-rib thoracic dysplasia 9 with or without polydactyly|Mainzer-Saldino syndrome|Mainzer Saldino syndrome	http://purl.obolibrary.org/obo/MONDO_0009964	DOID:0110097|https://omim.org/entry/266920|http://identifiers.org/snomedct/254092004|Orphanet:140969	ordo_disease
MONDO:0007303	biolink:Disease	cervical rib disease	A rib that is attached to a cervical vertebra or enlarged transverse processes.	HP:0000891|NCIT:C158329|MedDRA:10008301|MESH:D002573|ICD9:756.2|OMIM:117900|SCTID:72535009|EFO:1000861	mondo.json	cervical rib|cervical rib syndrome	http://purl.obolibrary.org/obo/MONDO_0007303	NCIT:C158329|https://omim.org/entry/117900|http://identifiers.org/snomedct/72535009|http://identifiers.org/mesh/D002573	
MONDO:0010953	biolink:Disease	Fanconi anemia complementation group E	Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.	DOID:0111084|NCIT:C125709|OMIM:600901|UMLS:C3160739	mondo.json	FANCE Fanconi anemia|Fanconi anemia, complementation group E|Fanconi anemia complementation group E|Fanconi anemia complementation group type E|FANCE|face|Fanconi Anemia, complementation group type E|Fanconi anemia caused by mutation in FANCE	http://purl.obolibrary.org/obo/MONDO_0010953	NCIT:C125709|UMLS:C3160739|https://omim.org/entry/600901|DOID:0111084	
UBERON:0004180	biolink:AnatomicalEntity	mammary gland fat			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004180		
MONDO:0007300	biolink:Disease	cerebral sarcoma	A sarcoma involving a telencephalon.	UMLS:C1861714|GARD:0010073|MESH:C537946|OMIM:117600	mondo.json	telencephalon sarcoma|cerebral sarcoma|sarcoma of telencephalon	http://purl.obolibrary.org/obo/MONDO_0007300	https://omim.org/entry/117600|http://identifiers.org/mesh/C537946|UMLS:C1861714	gard_rare
MONDO:0009963	biolink:Disease	Ulbright-Hodes syndrome	Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.	MESH:C537754|SCTID:719840003|OMIM:266910|GARD:0005394|Orphanet:3404|UMLS:C1849438	mondo.json	renal dysplasia-mesomelia-radiohumeral fusion syndrome|renal dysplasia-limb defects syndrome|renal dysplasia limb defects syndrome|Ulbright Hodes syndrome|RL syndrome|renal dysplasia, mesomelia, and radiohumeral fusion	http://purl.obolibrary.org/obo/MONDO_0009963	https://omim.org/entry/266910|UMLS:C1849438|Orphanet:3404|http://identifiers.org/snomedct/719840003|http://identifiers.org/mesh/C537754	ordo_malformation_syndrome
MONDO:0010956	biolink:Disease	enamel hypoplasia, cataracts, and aqueductal stenosis		OMIM:600907|UMLS:C1833163|GARD:0004801|MESH:C563430	mondo.json	enamel hypoplasia, capsular cataracts, and ductal stenosis|enamel hypoplasia, cataracts, and aqueductal stenosis|Seow Najjar syndrome	http://purl.obolibrary.org/obo/MONDO_0010956	http://identifiers.org/mesh/C563430|UMLS:C1833163|https://omim.org/entry/600907	
MONDO:0010955	biolink:Disease	ectodermal dysplasia with intellectual disability and syndactyly		OMIM:600906|UMLS:C1833169|GARD:0002052|MESH:C538018	mondo.json	ectodermal dysplasia intellectual disability syndactyly|ectodermal dysplasia mental retardation syndactyly|ectodermal dysplasia with mental retardation and syndactyly|ectodermal dysplasia with intellectual disability and syndactyly	http://purl.obolibrary.org/obo/MONDO_0010955	UMLS:C1833169|https://omim.org/entry/600906|http://identifiers.org/mesh/C538018	clingen
MONDO:0007301	biolink:Disease	cerebrocostomandibular syndrome	Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.	OMIM:117650|DOID:0111248|GARD:0006026|UMLS:C0265342|MESH:C562538|SCTID:51780007|Orphanet:1393|ICD9:759.89	mondo.json	rib Gap defects with micrognathia|CCMS|CEREBROCOSTOMANDIBULAR syndrome|cerebrocostomandibular syndrome|cerebro-costo-mandibular syndrome|CCM syndrome	http://purl.obolibrary.org/obo/MONDO_0007301	UMLS:C0265342|DOID:0111248|https://omim.org/entry/117650|http://identifiers.org/mesh/C562538|http://identifiers.org/snomedct/51780007|Orphanet:1393	ordo_malformation_syndrome
MONDO:0009962	biolink:Disease	Senior-Loken syndrome 1	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene.	OMIM:266900|SCTID:236531005|ICD9:759.89	mondo.json	SLSN1|SENIOR-Loken syndrome 1|Senior-Loken syndrome caused by mutation in NPHP1|juvenile nephronophthisis with Leber amaurosis|Senior-Loken syndrome 1|Senior-Loken syndrome|senior-loken syndrome-1|renal dysplasia and retinal aplasia|renal-retinal syndrome|Senior-Loken syndrome type 1|Loken-Senior syndrome|NPHP1 Senior-Loken syndrome	http://purl.obolibrary.org/obo/MONDO_0009962	https://omim.org/entry/266900|http://identifiers.org/snomedct/236531005	
MONDO:0010958	biolink:Disease	cardiac arrhythmia, ankyrin-B-related		DOID:0111701|OMIM:600919|DOID:0111700|UMLS:C1970119|SCTID:764457005|Orphanet:101016|GARD:0010432	mondo.json	long QT syndrome 4|LQT4|cardiac arrhythmia, ankyrin-b-related|ankyrin-B syndrome	http://purl.obolibrary.org/obo/MONDO_0010958	UMLS:C1970119|https://omim.org/entry/600919|http://identifiers.org/snomedct/764457005|DOID:0111701|DOID:0111700	
MONDO:0009961	biolink:Disease	renal and mullerian duct hypoplasia		OMIM:266810|MESH:C564853|UMLS:C1849439	mondo.json	renal and mullerian duct hypoplasia	http://purl.obolibrary.org/obo/MONDO_0009961	https://omim.org/entry/266810|UMLS:C1849439|http://identifiers.org/mesh/C564853	
CHEBI:33958	biolink:ChemicalSubstance	halide salt			mondo.json	halide salts|halides	http://purl.obolibrary.org/obo/CHEBI_33958		
MONDO:0009960	biolink:Disease	inflammatory bowel disease 1	Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene.	GARD:0009857|SCTID:34000006|ICD9:555.9|DOID:0110892|UMLS:C0009324|OMIM:266600	mondo.json	Crohn disease-associated Growth failure, susceptibility to|inflammatory bowel disease caused by mutation in NOD2|regional enteritis|IBD1|NOD2 inflammatory bowel disease|pediatric ulcerative colitis|inflammatory bowel disease (Crohn disease) 1|inflammatory bowel disease type 1|inflammatory bowel disease 1|inflammatory bowel disease 1, Crohn disease|crohn disease-associated growth failure|ulcerative colitis, pediatric|Crohn disease|ulcerative colitis	http://purl.obolibrary.org/obo/MONDO_0009960	https://omim.org/entry/266600|DOID:0110892|http://identifiers.org/snomedct/34000006	
MONDO:0010957	biolink:Disease	agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations		UMLS:C1833162|OMIM:600908	mondo.json	agonadism, 46,XY, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations|Kennerknecht syndrome|KENNERKNECHT syndrome|agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations	http://purl.obolibrary.org/obo/MONDO_0010957	UMLS:C1833162|https://omim.org/entry/600908	
MONDO:0010959	biolink:Disease	van den Ende-Gupta syndrome	Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.	SCTID:719845008|DOID:0111699|MESH:C535909|GARD:0003382|UMLS:C1833136|OMIM:600920|Orphanet:2460	mondo.json	Van den Ende Gupta syndrome|VAN DEN Ende-Gupta syndrome|van den Ende-Gupta syndrome|VDEGS|blepharophimosis, arachnodactyly, and congenital contractures|Marden-Walker-like syndrome|Marden Walker like syndrome|Marden-Walker-like syndrome without psychomotor retardation|Marden Walker like syndrome without psychomotor retardation	http://purl.obolibrary.org/obo/MONDO_0010959	http://identifiers.org/mesh/C535909|http://identifiers.org/snomedct/719845008|UMLS:C1833136|https://omim.org/entry/600920|Orphanet:2460|DOID:0111699	ordo_malformation_syndrome
UBERON:0004188	biolink:AnatomicalEntity	glomerular epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004188		
UBERON:0004185	biolink:AnatomicalEntity	endodermal part of digestive tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004185		
MONDO:0010961	biolink:Disease	obesity due to prohormone convertase I deficiency	Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones.	OMIM:600955|MESH:C563423|Orphanet:71528|UMLS:C1833053|DOID:0111698|UMLS:C4302878|SCTID:722053001	mondo.json	PCI deficiency|obesity with impaired prohormone processing|obesity and endocrinopathy due to impaired processing of prohormones|proprotein convertase 1/3 deficiency	http://purl.obolibrary.org/obo/MONDO_0010961	http://identifiers.org/snomedct/722053001|UMLS:C1833053|https://omim.org/entry/600955|DOID:0111698|Orphanet:71528|http://identifiers.org/mesh/C563423|UMLS:C4302878	ordo_disease
UBERON:0004183	biolink:AnatomicalEntity	placental labyrinth blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004183		
MONDO:0010960	biolink:Disease	protocadherin 3		OMIM:600931	mondo.json	Pcdh3|protocadherin type 3|protocadherin 3	http://purl.obolibrary.org/obo/MONDO_0010960	https://omim.org/entry/600931	
UBERON:0004184	biolink:AnatomicalEntity	prostate gland stroma			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004184		
MONDO:0010963	biolink:Disease	autosomal dominant nonsyndromic hearing loss 6	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene.	DOID:0110584|MESH:C563421|OMIM:600965|UMLS:C1833021	mondo.json	DFNA38|autosomal dominant deafness 38|DFNA14|autosomal dominant nonsyndromic deafness type 6|WFS1 autosomal dominant nonsyndromic deafness|autosomal dominant deafness 14|deafness, autosomal dominant 6/14/38|autosomal dominant nonsyndromic deafness 6|deafness, autosomal dominant 6|deafness, autosomal dominant 38|deafness, autosomal dominant 14|deafness, autosomal dominant type 6|autosomal dominant nonsyndromic deafness caused by mutation in WFS1|autosomal dominant deafness 6|DFNA6	http://purl.obolibrary.org/obo/MONDO_0010963	UMLS:C1833021|https://omim.org/entry/600965|DOID:0110584|http://identifiers.org/mesh/C563421	
MONDO:0010962	biolink:Disease	diffuse nonepidermolytic palmoplantar keratoderma	A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis.	Orphanet:530838|SCTID:716105001|GARD:0005186|EFO:1000743|Orphanet:496|DOID:0050428|OMIM:600962	mondo.json	Thost-Unna palmoplantar keratoderma|palmoplantar keratoderma, nonepidermolytic|diffuse NEPPK|NEPPK|autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type|nonepidermolytic palmoplantar keratoderma|keratoderma, nonepidermolytic palmoplantar|PPK diffusa circumscripta|KRT1-related diffuse nonepidermolytic keratoderma|PPKNE|Unna-Thost syndrome|Thost-Unna disease|non-epidermolytic palmoplantar keratoderma|diffuse nonepidermolytic palmoplantar keratoderma|Thost-Unna syndrome|tylosis|Unna-Thost palmoplantar keratoderma|diffuse palmoplantar keratoderma, Bothnian type	http://purl.obolibrary.org/obo/MONDO_0010962	https://omim.org/entry/600962|Orphanet:496|DOID:0050428|http://identifiers.org/snomedct/716105001|Orphanet:530838	ordo_inheritance_inconsistent|ordo_disease
UBERON:0004182	biolink:AnatomicalEntity	mammary gland cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004182		
MONDO:0022932	biolink:Disease	Davenport-Donlan syndrome	An n-of-1 disease characterized by hearing loss, almost white hair, a psoriasiform rash with hyperkaratotic papillomata, muscle contractures, and depressed granulocyte and monocyte chemotaxis, dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and muscle contractures, and depressed granulocyte and monocyte chemotaxis. This is an n-of-1 use case where only one patient or family has been described with this disorder.	Orphanet:3215|MESH:C535988|UMLS:C2931076|GARD:0001672	mondo.json	Davenport Donlan syndrome|dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and depressed chemotaxis	http://purl.obolibrary.org/obo/MONDO_0022932	http://identifiers.org/mesh/C535988|UMLS:C2931076	gard_rare|n_of_one
PO:0004010	biolink:NamedThing	meristematic cell	A native plant cell (PO:0025606) synthesizing protoplasm and producing new cells by division and with only a primary cell wall.	PO_GIT:272|CL:0000034	mondo.json	c&#233lula meristem&#225tica (Spanish, exact)|分裂組織細胞 (Japanese, exact)|stem cell (exact)	http://purl.obolibrary.org/obo/PO_0004010		CL
MONDO:0022934	biolink:Disease	Davis Lafer syndrome		MESH:C535989|UMLS:C2931077|GARD:0001674	mondo.json	mental retardation unusual facies Davis Lafer type|Lafer Davis syndrome|intellectual disability unusual facies Davis Lafer type	http://purl.obolibrary.org/obo/MONDO_0022934	http://identifiers.org/mesh/C535989|UMLS:C2931077	gard_rare
MONDO:0022936	biolink:Disease	de Hauwere Leroy adriaenssens syndrome		MESH:C535991|UMLS:C2931078	mondo.json	iris dysplasia, orbital hypertelorism, and psychomotor retardation	http://purl.obolibrary.org/obo/MONDO_0022936	http://identifiers.org/mesh/C535991|UMLS:C2931078	
MONDO:0022937	biolink:Disease	deafness conductive stapedial ear malformation facial palsy		GARD:0001684	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022937		gard_rare
NCBITaxon:8782	biolink:OrganismalEntity	Aves		GC_ID:1	mondo.json	birds|birds|avian	http://purl.obolibrary.org/obo/NCBITaxon_8782		
MONDO:0022938	biolink:Disease	deafness goiter stippled epiphyses		GARD:0001689	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022938		gard_rare
CHR:9606-chr7p11.2-p13	biolink:NamedThing	7p11.2-p13 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr7p11.2-p13		
UBERON:0004189	biolink:AnatomicalEntity	glomerular endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004189		
MONDO:0022939	biolink:Disease	obsolete deafness hyperuricemia neurologic ataxia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022939		
CHEBI:79314	biolink:ChemicalSubstance	flame retardant	Any compound that is added to manufactured materials to inhibit, suppress, or delay the production of flames and so prevent the spread of fire.		mondo.json	flame retardants	http://purl.obolibrary.org/obo/CHEBI_79314		
HP:0100845	biolink:PhenotypicFeature	Anaphylactic shock	An acute hypersensitivity reaction due to exposure to a previously encountered antigen.	MSH:D000707|SNOMEDCT_US:39579001|UMLS:C0002792	mondo.json	Anaphylaxis	http://purl.obolibrary.org/obo/HP_0100845		
MONDO:0007319	biolink:Disease	chondrocalcinosis 2	A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA).	OMIM:118600|Orphanet:1416|MESH:C563162|UMLS:CN199517|GARD:0001292	mondo.json	calcium gout|familial articular chondrocalcinosis|chondrocalcinosis familial articular|calcium gout, familial|familial calcium pyrophosphate deposition|CCAL2|hereditary CC|chondrocalcinosis 2|calcium pyrophosphate arthropathy|calcium pyrophosphate dihydrate deposition disease|calcium pyrophosphate arthropathy, familial|hereditary articular chondrocalcinosis|familial CPPD|Pseudogout, familial|familial CC|chondrocalcinosis type 2|familial calcium pyrophosphate dihydrate deposition disease|calcium pyrophosphate dihydrate crystal deposition disease|hereditary calcium pyrophosphate deposition|chondrocalcinosis, familial articular|CPPDD	http://purl.obolibrary.org/obo/MONDO_0007319	Orphanet:1416|https://omim.org/entry/118600|UMLS:CN199517|http://identifiers.org/mesh/C563162	ordo_disease
HP:0100851	biolink:PhenotypicFeature	Abnormal emotion/affect behavior	An abnormality of emotional behaviour.	UMLS:C4020949	mondo.json	Abnormal emotion/affect behaviour	http://purl.obolibrary.org/obo/HP_0100851		
HP:0100852	biolink:PhenotypicFeature	Abnormal fear/anxiety-related behavior	An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response.	UMLS:C4018849	mondo.json	Abnormal fear/anxiety-related behaviour	http://purl.obolibrary.org/obo/HP_0100852		
MONDO:0007317	biolink:Disease	obsolete chlorpropamide-alcohol flushing		UMLS:C1861630|OMIM:118430	mondo.json	CHLORPROPAMIDE-alcohol flushing|chlorpropamide-alcohol flushing|CPAF	http://purl.obolibrary.org/obo/MONDO_0007317	https://omim.org/entry/118430|UMLS:C1861630	
MONDO:0009979	biolink:Disease	reticular dystrophy of the retinal pigment epithelium	Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.	OMIM:179840|MESH:C564844|Orphanet:99002|ICD10CM:H35.5|OMIM:267800|UMLS:C1867332|MESH:C566721|SCTID:723502001	mondo.json	reticular dystrophy of retinal pigment epithelium|retinal dystrophy, reticular pigmentary, of POSTERIOR POLE	http://purl.obolibrary.org/obo/MONDO_0009979	http://identifiers.org/mesh/C566721|UMLS:C1867332|http://identifiers.org/snomedct/723502001|Orphanet:99002|https://omim.org/entry/179840	ordo_disease
MONDO:0007318	biolink:Disease	Alagille syndrome	Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.	UMLS:C0085280|MedDRA:10053870|SCTID:31742004|Orphanet:52|OMIMPS:118450|DOID:9245|GARD:0000804|ICD9:759.89|MESH:D016738|NCIT:C35139	mondo.json	syndromic bile duct paucity|Arteriohepatic dysplasia|Hepatofacioneurocardiovertebral syndrome|paucity of interlobular bile ducts|Watson Alagille syndrome|hepatic ductular hypoplasia|Cardiovertebral syndrome|Alagille syndrome|Watson-Miller syndrome|Alagille-Watson syndrome	http://purl.obolibrary.org/obo/MONDO_0007318	https://omim.org/phenotypicSeries/PS118450|DOID:9245|Orphanet:52|http://identifiers.org/snomedct/31742004|http://identifiers.org/mesh/D016738|NCIT:C35139|UMLS:C0085280	ordo_malformation_syndrome
MONDO:0007315	biolink:Disease	cherubism	Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.	Orphanet:184|MedDRA:10070535|GARD:0006036|ICD9:526.89|OMIM:118400|DOID:1856|SCTID:76098004|UMLS:C0008029|NCIT:C84630|MESH:D002636	mondo.json	CRBM|familial fibrous dysplasia of the jaws|familial multilocular cystic disease of the jaws|Crbm|cherubism	http://purl.obolibrary.org/obo/MONDO_0007315	http://identifiers.org/snomedct/76098004|DOID:1856|NCIT:C84630|http://identifiers.org/mesh/D002636|https://omim.org/entry/118400|UMLS:C0008029|Orphanet:184	gard_rare|ordo_malformation_syndrome
MONDO:0009978	biolink:Disease	retinal degeneration-nanophthalmos-glaucoma syndrome	Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.	UMLS:C2931831|GARD:0000395|ICD10CM:H35.5|Orphanet:1574|MESH:C538364|SCTID:723503006|OMIM:267760	mondo.json	Mackay-Shek-Carr syndrome|retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma|MacKay Shek Carr syndrome|retinal degeneration, nanophthalmos, glaucoma	http://purl.obolibrary.org/obo/MONDO_0009978	https://omim.org/entry/267760|http://identifiers.org/snomedct/723503006|UMLS:C2931831|http://identifiers.org/mesh/C538364|Orphanet:1574	ordo_malformation_syndrome
MONDO:0022930	biolink:Disease	Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia		MESH:C538340|GARD:0000137|UMLS:C2931823	mondo.json	Aughton sloan Milad syndrome	http://purl.obolibrary.org/obo/MONDO_0022930	UMLS:C2931823|http://identifiers.org/mesh/C538340	gard_rare
MONDO:0009977	biolink:Disease	Knobloch syndrome	Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.	GARD:0000380|SCTID:703542000|ICD9:759.89|UMLS:C1849409|Orphanet:1571|MESH:C537209|OMIM:267750	mondo.json	KNO1|myopia retinal detachment encephalocele|retinal detachment-occipital encephalocele syndrome|Knobloch syndrome type 1|retinal detachment and occipital encephalocele|KNOBLOCH syndrome 1|Kno|Knobloch syndrome, type 1|Knobloch-Layer syndrome	http://purl.obolibrary.org/obo/MONDO_0009977	https://omim.org/entry/267750|UMLS:C1849409|http://identifiers.org/snomedct/703542000|http://identifiers.org/mesh/C537209|Orphanet:1571	ordo_malformation_syndrome|gard_rare|obsoletion_candidate
MONDO:0007316	biolink:Disease	Chiari malformation type I	Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.	OMIM:118420|Orphanet:268882|MedDRA:10056944|SCTID:253185002	mondo.json	Chiari malformation type 1 with syringomyelia|Cm1 with syringomyelia|Chiari malformation type I|Arnold-Chiari malformation type 1|Chiari malformation type 1|Cm1|Arnold-Chiari malformation type I	http://purl.obolibrary.org/obo/MONDO_0007316	Orphanet:268882|http://identifiers.org/snomedct/253185002|https://omim.org/entry/118420	ordo_morphological_anomaly
MONDO:0007313	biolink:Disease	cheilitis glandularis	Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands.	SCTID:26374003|Orphanet:1221|OMIM:118330|UMLS:C0267034|MESH:C535921|GARD:0000412	mondo.json	cheilitis glandularis	http://purl.obolibrary.org/obo/MONDO_0007313	http://identifiers.org/mesh/C535921|UMLS:C0267034|http://identifiers.org/snomedct/26374003|https://omim.org/entry/118330|Orphanet:1221	gard_rare|ordo_disease
MONDO:0009976	biolink:Disease	retinal degeneration and epilepsy		MESH:C564847|UMLS:C1849416|OMIM:267740	mondo.json	retinal degeneration and epilepsy	http://purl.obolibrary.org/obo/MONDO_0009976	http://identifiers.org/mesh/C564847|UMLS:C1849416|https://omim.org/entry/267740	
MONDO:0010943	biolink:Disease	schizophrenia 4	A schizophrenia that has material basis in an autosomal dominant mutation of PRODH on chromosome 22q11.21.	OMIM:600850|UMLS:C1833247|DOID:0070080	mondo.json	schizophrenia type 4|schizophrenia susceptibility locus, chromosome 22Q11-related|SCZD4|schizophrenia, susceptibility to, 4|schizophrenia 4	http://purl.obolibrary.org/obo/MONDO_0010943	DOID:0070080|https://omim.org/entry/600850|UMLS:C1833247	
MONDO:0007314	biolink:Disease	chemodectoma, intraabdominal, with cutaneous angiolipomas		UMLS:C2930928|GARD:0001265|MESH:C535552|OMIM:118350	mondo.json	chemodectoma, intraabdominal, with cutaneous angiolipomas|abdominal chemodectomas with cutaneous angiolipomas	http://purl.obolibrary.org/obo/MONDO_0007314	http://identifiers.org/mesh/C535552|UMLS:C2930928|https://omim.org/entry/118350	
MONDO:0010942	biolink:Disease	obsolete eukaryotic translation elongation factor 1 alpha-1-like 14			mondo.json	eukaryotic translation elongation factor 1 ALPHA-1-like 14|prostatic carcinoma tumor-inducing Gene 1|eukaryotic translation elongation Factor 1 Alpha-1-like type 14|EEF1A1L14	http://purl.obolibrary.org/obo/MONDO_0010942		
MONDO:0009975	biolink:Disease	reticulum cell sarcoma	An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes.	SCTID:373168002|ICD9:200.7|MESH:D008228|EFO:0005287|ICD9:200.00|Orphanet:86900|OMIM:267730|NCIT:C27824|MedDRA:10038804|MESH:D054739|ICD9:200.0|DOID:8538	mondo.json	reticulosarcoma|reticular cell sarcoma|histiocytic lymphoma|large-cell Lymphomas|Reticulum cell sarcoma|reticulum cell sarcoma|sarcoma of reticular cell|interdigitating cell sarcoma	http://purl.obolibrary.org/obo/MONDO_0009975	NCIT:C27824|DOID:8538|http://identifiers.org/snomedct/373168002|Orphanet:86900|https://omim.org/entry/267730	ordo_disease
MONDO:0009974	biolink:Disease	familial hemophagocytic lymphohistiocytosis type 1	Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.	DOID:0110921|UMLS:CN205265|UMLS:C0272199|OMIM:267700|NCIT:C61276|UMLS:CN034020|OMIM:613101|OMIM:603553|MedDRA:10070904|OMIM:608898|OMIM:603552	mondo.json	familial hemophagocytic lymphohistiocytosis|Hplh1|familial hemophagocytic lymphohistiocytosis 1|Hlh1|familial hemophagocytic lymphohistiocytosis type 1|HLH1|HPLH1|hemophagocytic reticulosis, familial|hemophagocytic lymphohistiocytosis, familial|familial HLH|Erythrophagocytic lymphohistiocytosis, familial|FHL1|reticulosis, familial histiocytic|hemophagocytic lymphohistiocytosis, familial, 1	http://purl.obolibrary.org/obo/MONDO_0009974	NCIT:C61276|DOID:0110921|UMLS:CN205265|UMLS:CN034020|UMLS:C0272199|https://omim.org/entry/267700	ordo_disease|prototype_pattern
MONDO:0007311	biolink:Disease	Charcot-Marie-Tooth disease type 1E	A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.	MESH:C537986|GARD:0009190|DOID:0110153|OMIM:118300|UMLS:C2931686|Orphanet:90658	mondo.json	Charcot-Marie-Tooth disease demyelinating type 1E|Charcot-Marie-Tooth disease-deafness|Charcot-Marie-Tooth disease, type 1E|CMT1E|Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant|Charcot-Marie-Tooth disease and deafness|CMT 1E|Charcot Marie Tooth disease type 1E|Charcot-Marie-Tooth disease, demyelinating, type 1E|autosomal dominant Charcot-Marie-Tooth neuropathy and deafness|Charcot-Marie-Tooth disease-deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0007311	DOID:0110153|UMLS:C2931686|https://omim.org/entry/118300|Orphanet:90658|http://identifiers.org/mesh/C537986	ordo_disease
MONDO:0010945	biolink:Disease	retinitis pigmentosa 17	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CA4 gene.	ICD10CM:H35.5|MESH:C563437|OMIM:600852|UMLS:C1833245|GARD:0010387|DOID:0110404	mondo.json	CA4 retinitis pigmentosa|retinitis pigmentosa type 17|RP17|retinitis pigmentosa 17|retinitis pigmentosa caused by mutation in CA4|RP 17	http://purl.obolibrary.org/obo/MONDO_0010945	DOID:0110404|http://identifiers.org/mesh/C563437|https://omim.org/entry/600852|UMLS:C1833245	gard_rare
MONDO:0010944	biolink:Disease	mitochondrial import-stimulating factor		OMIM:600851	mondo.json	mitochondrial import-stimulating factor|MSF	http://purl.obolibrary.org/obo/MONDO_0010944	https://omim.org/entry/600851	
MONDO:0009973	biolink:Disease	reticular dysgenesis	Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.	GARD:0008625|DOID:0060020|NCIT:C27070|OMIM:267500|MESH:C538361|Orphanet:33355|SCTID:111584000|UMLS:C0272167	mondo.json	DeVaal disease|RD|generalized hematopoietic hypoplasia|aleukocytosis|reticular Dysgenesia|hematopoietic hypoplasia, generalized|SCID with leukopenia|severe combined immunodeficiency with leukopenia|congenital aleukocytosis|De Vaal disease|AK2 deficiency|reticular dysgenesis|congenital Aleukia	http://purl.obolibrary.org/obo/MONDO_0009973	NCIT:C27070|DOID:0060020|http://identifiers.org/snomedct/111584000|UMLS:C0272167|Orphanet:33355|http://identifiers.org/mesh/C538361|https://omim.org/entry/267500	ordo_disease|gard_rare
MONDO:0007312	biolink:Disease	Charcot-Marie-Tooth disease with ptosis and parkinsonism		OMIM:118301|MESH:C538079|UMLS:C1861668	mondo.json	Charcot-Marie-Tooth disease with ptosis and parkinsonism	http://purl.obolibrary.org/obo/MONDO_0007312	http://identifiers.org/mesh/C538079|https://omim.org/entry/118301|UMLS:C1861668	
MONDO:0010947	biolink:Disease	Budd-Chiari syndrome	Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.	OMIM:600880|ICD9:453.0|ICD10CM:I82.0|SCTID:82385007|Orphanet:131|GARD:0005968|UMLS:C0856761|MESH:D006502|MedDRA:10006537	mondo.json	membranous obstruction of the inferior vena cava|Budd-Chiari syndrome|membranous obstruction of Inferior vena cava|Budd-Chiari syndrome, somatic|BDCHS	http://purl.obolibrary.org/obo/MONDO_0010947	http://identifiers.org/mesh/D006502|http://identifiers.org/snomedct/82385007|https://omim.org/entry/600880|Orphanet:131|http://purl.bioontology.org/ontology/ICD10CM/I82.0|UMLS:C0856761	gard_rare|ordo_disease
MONDO:0009972	biolink:Disease	respiratory underresponsiveness to hypoxia and hypercapnia		OMIM:267480|MESH:C564848	mondo.json	respiratory underresponsiveness to hypoxia and hypercapnia	http://purl.obolibrary.org/obo/MONDO_0009972	http://identifiers.org/mesh/C564848|https://omim.org/entry/267480	
MONDO:0009971	biolink:Disease	respiratory distress syndrome in premature infants	Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.	MESH:C566881|GARD:0000112|EFO:1000644|OMIM:267450|UMLS:C1968593|Orphanet:70587	mondo.json	NRDS|respiratory distress syndrome in premature infants|infantile respiratory distress syndrome|respiratory distress syndrome|RDS of prematurity|hyaline Membrane disease, formerly|respiratory distress syndrome, infant|hyaline Membrane disease|RDS - infants|RDS|IRDS	http://purl.obolibrary.org/obo/MONDO_0009971	Orphanet:70587|UMLS:C1968593|https://omim.org/entry/267450|http://identifiers.org/mesh/C566881	gard_rare|ordo_disease
MONDO:0010946	biolink:Disease	hypertrophic cardiomyopathy 6	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 gene.	DOID:0110312|OMIM:600858|MESH:C563436|UMLS:C1833236	mondo.json	cardiomyopathy, hypertrophic 6|hypertrophic cardiomyopathy caused by mutation in PRKAG2|cardiomyopathy, familial hypertrophic, type 6|hypertrophic cardiomyopathy 6|cardiomyopathy, familial hypertrophic 6|hypertrophic cardiomyopathy type 6|CMH6|PRKAG2 hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 6	http://purl.obolibrary.org/obo/MONDO_0010946	DOID:0110312|http://identifiers.org/mesh/C563436|https://omim.org/entry/600858|UMLS:C1833236	
GO:0140657	biolink:NamedThing	ATP-dependent activity	A molecular function characterized by the coupling of ATP hydrolysis to other steps of a reaction mechanism to make the reaction energetically favorable, for example to catalyze a reaction or drive transport against a concentration gradient.		mondo.json	ATP hydrolysis-dependent activity|ATPase activity|ATPase activity, coupled|ATPase-dependent activity	http://purl.obolibrary.org/obo/GO_0140657		
MONDO:0007310	biolink:Disease	Charcot-Marie-Tooth disease, Guadalajara neuronal type		OMIM:118230|MESH:C566137|UMLS:C1861673	mondo.json	Charcot-Marie-Tooth disease, Guadalajara neuronal type	http://purl.obolibrary.org/obo/MONDO_0007310	https://omim.org/entry/118230|http://identifiers.org/mesh/C566137|UMLS:C1861673	
MONDO:0009970	biolink:Disease	renal tubular dysgenesis of genetic origin	An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome.	Orphanet:97369|OMIM:267430	mondo.json	renal tubular dysgenesis|RTD|primitive renal tubule syndrome|renal tubular dysgenesis with choanal atresia and athelia|genetic renal tubular dysgenesis|renal tubular dysgenesis of genetic origin	http://purl.obolibrary.org/obo/MONDO_0009970	https://omim.org/entry/267430|Orphanet:97369	ordo_etiological_subtype
MONDO:0010949	biolink:Disease	Charcot-Marie-Tooth disease type 2B	Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.	GARD:0009192|UMLS:C1833219|OMIM:600882|DOID:0110159|SCTID:717008005|Orphanet:99936|MESH:C537989	mondo.json	hereditary motor and sensory neuropathy 2 B (HMSN 2 B)|Charcot-Marie-Tooth disease, autosomal dominant, type 2B|CMT2B|Charcot-Marie-Tooth neuropathy, type 2B|Charcot-Marie-Tooth disease type 2 caused by mutation in RAB7A|HMSN2B|Charcot-Marie-Tooth disease, type 2B|hereditary motor and sensory nueropathy IIB|Charcot-Marie-Tooth neuropathy type 2B|Charcot-Marie-Tooth disease, axonal, type 2B|RAB7A Charcot-Marie-Tooth disease type 2|peripheral sensory neuropathy, autosomal dominant (PSN)|hereditary motor and sensory neuropathy 2B|Charcot-Marie-Tooth disease, neuronal, type 2B|HMSN IIB|Charcot Marie Tooth disease type 2B|autosomal dominant Charcot-Marie-Tooth disease type 2B|CMT 2B	http://purl.obolibrary.org/obo/MONDO_0010949	http://identifiers.org/mesh/C537989|DOID:0110159|http://identifiers.org/snomedct/717008005|https://omim.org/entry/600882|UMLS:C1833219|Orphanet:99936	gard_rare|ordo_disease
MONDO:0010948	biolink:Disease	cataract 10 multiple types	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene.	UMLS:C1833229|OMIM:600881|DOID:0110258|Orphanet:98985|Orphanet:98995|MESH:C563435	mondo.json	cataract, congenital zonular, with sutural opacities|early-onset non-syndromic cataract caused by mutation in CRYBA1|congenital zonular cataract with sutural opacities|CCZS|CRYBA1 early-onset non-syndromic cataract|cataract 10, multiple types|CTRCT10	http://purl.obolibrary.org/obo/MONDO_0010948	DOID:0110258|http://identifiers.org/mesh/C563435|https://omim.org/entry/600881|UMLS:C1833229	
UBERON:0004176	biolink:AnatomicalEntity	external genitalia			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004176		
UBERON:0004177	biolink:AnatomicalEntity	hemopoietic organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004177		
UBERON:0004175	biolink:AnatomicalEntity	internal genitalia			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004175		
MONDO:0010950	biolink:Disease	type 1 diabetes mellitus 8	A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 6q25-q27.	OMIM:600883|MESH:C563433|DOID:0110747|UMLS:C1833218	mondo.json	insulin-dependent diabetes mellitus 8|diabetes mellitus, insulin-dependent, 8|IDDM8	http://purl.obolibrary.org/obo/MONDO_0010950	https://omim.org/entry/600883|UMLS:C1833218|DOID:0110747|http://identifiers.org/mesh/C563433	
MONDO:0010952	biolink:Disease	hereditary hyperferritinemia with congenital cataracts	Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.	DOID:0111256|GARD:0002806|OMIM:600886|UMLS:C1833213|SCTID:702398007|ICD9:289.89|Orphanet:163|ICD9:366.44|MESH:C538137	mondo.json	hereditary hyperferritinemia cataract syndrome|hyperferritinemia-cataract syndrome|Bonneau-Beaumont syndrome|HRFTC|cataract-hyperferritinemia syndrome|HHCS|hereditary hyperferritinemia-cataract syndrome|hyperferritinemia cataract syndrome|hyperferritinemia with or without cataract|hyperferritinemia, hereditary, with congenital cataracts	http://purl.obolibrary.org/obo/MONDO_0010952	https://omim.org/entry/600886|UMLS:C1833213|http://identifiers.org/mesh/C538137|http://identifiers.org/snomedct/702398007|Orphanet:163|DOID:0111256	ordo_disease
MONDO:0010951	biolink:Disease	dilated cardiomyopathy 1B	A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13.	DOID:0110443|OMIM:600884	mondo.json	cardiomyopathy, dilated, 1B|dilated cardiomyopathy type 1B|cardiomyopathy, familial dilated, 1|cardiomyopathy, dilated 1B|cardiomyopathy, familial dilated	http://purl.obolibrary.org/obo/MONDO_0010951	https://omim.org/entry/600884|DOID:0110443	
MONDO:0022921	biolink:Disease	obsolete short stature-microcephaly-heart defect syndrome		GARD:0000233|Orphanet:2861	mondo.json	short stature microcephaly heart defect|d'ercole syndrome	http://purl.obolibrary.org/obo/MONDO_0022921	Orphanet:2861	gard_rare
MONDO:0022926	biolink:Disease	obsolete daentl towsend Siegel syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022926		
HGNC:2364	biolink:NamedThing	CRLF1			mondo.json		http://identifiers.org/hgnc/2364		
UBERON:0004178	biolink:AnatomicalEntity	aorta smooth muscle tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004178		
MONDO:0010939	biolink:Disease	low phospholipid associated cholelithiasis	Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years.	SCTID:715577009|UMLS:C2609268|Orphanet:69663|MedDRA:10068936|OMIM:600803	mondo.json	gallbladder disease 1|cholelithiasis, Low phospholipid-associated|LPAC|gallbladder disease type 1|ABCB4 gene mutation-associated cholelithiasis|GBD1|cholelithiasis with ABCB4 gene mutation	http://purl.obolibrary.org/obo/MONDO_0010939	Orphanet:69663|UMLS:C2609268|http://identifiers.org/snomedct/715577009|https://omim.org/entry/600803	ordo_disease
MONDO:0009949	biolink:Disease	pyruvate carboxylase deficiency disease	Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.	NCIT:C85040|MESH:D015324|DOID:3651|Orphanet:3008|ICD9:277.89|OMIM:266150|EFO:1001142|UMLS:C2931141|GARD:0007512|UMLS:C0034341|UMLS:CN203409|SCTID:87694001	mondo.json	pyruvate carboxylase deficiency disease|Leigh syndrome due to pyruvate carboxylase deficiency|pyruvate carboxylase deficiency|Pc deficiency|ataxia with lactic acidosis type II|Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|ataxia with lactic acidosis 2|deficiency of pyruvic carboxylase|ataxia with lactic acidosis type 2|Leigh syndrome due to PC deficiency	http://purl.obolibrary.org/obo/MONDO_0009949	http://identifiers.org/mesh/D015324|UMLS:CN203409|https://omim.org/entry/266150|DOID:3651|NCIT:C85040|http://identifiers.org/snomedct/87694001|UMLS:C2931141|UMLS:C0034341|Orphanet:3008	ordo_disease
MONDO:0009948	biolink:Disease	pyropoikilocytosis, hereditary	An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency.	MESH:C563004|OMIM:266140|SCTID:9434008|Orphanet:98867|NCIT:C98943|ICD9:790.09|GARD:0004619	mondo.json	pyropoikilocytosis hereditary|pyropoikilocytosis|hereditary pyropoikilocytosis|pyropoikilocytosis, hereditary|HPP	http://purl.obolibrary.org/obo/MONDO_0009948	https://omim.org/entry/266140|http://identifiers.org/mesh/C563004|NCIT:C98943|http://identifiers.org/snomedct/9434008	gard_rare
MONDO:0009947	biolink:Disease	glutathione synthetase deficiency with 5-oxoprolinuria		Orphanet:289846|ICD9:270.8|SCTID:39112005|OMIM:266130	mondo.json	GSSD|glutathione synthetase deficiency|5-oxoprolinuria|pyroglutamic aciduria	http://purl.obolibrary.org/obo/MONDO_0009947	https://omim.org/entry/266130|http://identifiers.org/snomedct/39112005|Orphanet:289846	ordo_clinical_subtype
MONDO:0009946	biolink:Disease	hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.	OMIM:266120|Orphanet:35120|UMLS:C1849507|MESH:C564859	mondo.json	hemolytic Anemia due to Umph1 deficiency|uridine 5'-monophosphate hydrolase deficiency|Umph1 deficiency|UMPH1 deficiency|hemolytic Anemia due to P5N deficiency|anemia, hemolytic, due to UMPH1 deficiency|uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to|pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anemia due to|P5N deficiency	http://purl.obolibrary.org/obo/MONDO_0009946	https://omim.org/entry/266120|http://identifiers.org/mesh/C564859|UMLS:C1849507|Orphanet:35120	ordo_disease
MONDO:0009945	biolink:Disease	pyridoxine-dependent epilepsy	A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).	GARD:0009298|UMLS:C1291560|SCTID:734434007|MESH:C536254|Orphanet:3006|UMLS:C1849508|UMLS:CN203406	mondo.json	EPD|Epd|antiquitin deficiency|AASA dehydrogenase deficiency|pyridoxine dependency|epilepsy, pyridoxine-dependent|vitamin B6-dependent seizures|pyridoxine dependency with seizures|pyridoxine-dependent epilepsy	http://purl.obolibrary.org/obo/MONDO_0009945	http://identifiers.org/snomedct/734434007|http://identifiers.org/mesh/C536254|UMLS:C1849508|Orphanet:3006|UMLS:CN203406	ordo_disease|gard_rare
MONDO:0009944	biolink:Disease	pyloric atresia		MESH:C562561|SCTID:27729002|ICD9:750.7|OMIM:265950	mondo.json	pyloric atresia	http://purl.obolibrary.org/obo/MONDO_0009944	http://identifiers.org/snomedct/27729002|https://omim.org/entry/265950|http://identifiers.org/mesh/C562561	
MONDO:0009943	biolink:Disease	Pyle disease	A bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.	SCTID:27837003|GARD:0004612|Orphanet:3005|ICD9:758.5|OMIM:265900|MESH:C536252|DOID:0080019	mondo.json	Pyl|Pyle disease|Pyle-Cohn syndrome|metaphyseal dysplasia|metaphyseal dysplasia Pyle type|Bakwin-Krida syndrome|Pyle's syndrome|chondrodysplasia calcificans metaphysealis|Pyle's disease|metaphyseal dysplasia, Pyle type	http://purl.obolibrary.org/obo/MONDO_0009943	DOID:0080019|http://identifiers.org/mesh/C536252|http://identifiers.org/snomedct/27837003|https://omim.org/entry/265900|Orphanet:3005	ordo_disease
MONDO:0010932	biolink:Disease	progressive bifocal chorioretinal atrophy	Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression.	MESH:C535356|OMIM:600790|Orphanet:75373|UMLS:C1833321|SCTID:719266007|GARD:0010123	mondo.json	chorioretinal atrophy, progressive bifocal|CRAPB|PBCRA|Crapb|progressive bifocal chorioretinal atrophy	http://purl.obolibrary.org/obo/MONDO_0010932	http://identifiers.org/mesh/C535356|http://identifiers.org/snomedct/719266007|https://omim.org/entry/600790|Orphanet:75373|UMLS:C1833321	ordo_disease|gard_rare
MONDO:0009942	biolink:Disease	pyknoachondrogenesis	Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.	OMIM:265880|UMLS:C1849523|GARD:0004610|SCTID:719258003|MESH:C536251|Orphanet:3003	mondo.json	association of skeletal defects resembling achondrogenesis with generalized bone sclerosis|camera syndrome|pyknoachondrogenesis	http://purl.obolibrary.org/obo/MONDO_0009942	http://identifiers.org/snomedct/719258003|http://identifiers.org/mesh/C536251|https://omim.org/entry/265880|UMLS:C1849523|Orphanet:3003	gard_rare|ordo_malformation_syndrome
MONDO:0010931	biolink:Disease	vitamin D-dependent rickets, type 2B	Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations.	NCIT:C131076|UMLS:C2748783|SCTID:237895001|OMIM:600785	mondo.json	hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor without alopecia|vitamin D-dependent rickets type II without alopecia|VDDR2B|vitamin D resistant rickets|vitamin D dependent rickets 2b|vitamin D receptor signaling defect rickets|vitamin D-dependent rickets, type 2B, with normal vitamin D receptor	http://purl.obolibrary.org/obo/MONDO_0010931	UMLS:C2748783|http://identifiers.org/snomedct/237895001|https://omim.org/entry/600785|NCIT:C131076	
MONDO:0009941	biolink:Disease	Pygmy		UMLS:C1849524|OMIM:265850	mondo.json	Pygmy|Pygmy, African	http://purl.obolibrary.org/obo/MONDO_0009941	https://omim.org/entry/265850|UMLS:C1849524	
MONDO:0010934	biolink:Disease	obsolete DFNB5			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010934		
MONDO:0010933	biolink:Disease	autosomal recessive nonsyndromic hearing loss 4	An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22.	MESH:C566366|OMIM:600791|DOID:0110498	mondo.json	enlarged vestibular aqueduct|autosomal recessive nonsyndromic deafness type 4|enlarged vestibular aqueduct, digenic|neurosensory nonsyndromic recessive deafness 4|autosomal recessive nonsyndromic deafness 4|dilated vestibular aqueduct|autosomal recessive deafness 4 with enlarged vestibular aqueduct|deafness, autosomal recessive 4, with enlarged vestibular aqueduct|DFNB4	http://purl.obolibrary.org/obo/MONDO_0010933	DOID:0110498|https://omim.org/entry/600791|http://identifiers.org/mesh/C566366	
MONDO:0009940	biolink:Disease	pycnodysostosis	Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery.	GARD:0004611|SCTID:89647000|Orphanet:763|UMLS:C0238402|OMIM:265800|NCIT:C131187|DOID:0080038|MESH:D058631	mondo.json	pycnodysostosis|Pyknodysostosis|PKND|Pycd	http://purl.obolibrary.org/obo/MONDO_0009940	NCIT:C131187|Orphanet:763|https://omim.org/entry/265800|http://identifiers.org/snomedct/89647000|http://identifiers.org/mesh/D058631|UMLS:C0238402|DOID:0080038	gard_rare|ordo_disease
CHR:9606-chr9q21.1	biolink:NamedThing	9q21.1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr9q21.1		
MONDO:0010936	biolink:Disease	frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene.	OMIM:600795|SCTID:702393003|MESH:C563708|DOID:0111227|MESH:C579991|OMIM:614696|DOID:0060208|ICD9:331.19|UMLS:C1836076|UMLS:C1833296	mondo.json	frontotemporal dementia, chromosome 3-linked|Dmt1|CHMP2B-related amyotrophic lateral sclerosis|FTD3|amyotrophic lateral sclerosis, Chmp2B-related|CHMP2B amyotrophic lateral sclerosis|dementia, familial nonspecific|amyotrophic lateral sclerosis caused by mutation in CHMP2B	http://purl.obolibrary.org/obo/MONDO_0010936	DOID:0111227|http://identifiers.org/mesh/C579991|DOID:0060208|UMLS:C1836076|http://identifiers.org/snomedct/702393003|https://omim.org/entry/614696|http://identifiers.org/mesh/C563708|https://omim.org/entry/600795|UMLS:C1833296	
MONDO:0010935	biolink:Disease	obsolete neuronopathy, distal hereditary motor, type 5A			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010935		
CHEBI:33937	biolink:ChemicalSubstance	macronutrient	Any nutrient required in large quantities by organisms throughout their life in order to orchestrate a range of physiological functions. Macronutrients are usually chemical elements (carbon, hydrogen, nitrogen, oxygen, phosphorus and sulfur) that humans consume in the largest quantities. Calcium, sodium, magnesium and potassium are sometimes included as macronutrients because they are required in relatively large quantities compared with other vitamins and minerals.		mondo.json	macronutrients	http://purl.obolibrary.org/obo/CHEBI_33937		
MONDO:0010938	biolink:Disease	T-B+ severe combined immunodeficiency due to JAK3 deficiency	Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.	MESH:C563440|UMLS:C4273742|UMLS:C1833275|Orphanet:35078|OMIM:600802|SCTID:718107000	mondo.json	SCID, T cell-negative, B cell-positive, NK cell-negative|T-B+ severe combined immunodeficiency due to JAK3 deficiency|T-B+ SCID due to JAK3 deficiency|SCID, autosomal recessive, T-negative/B-positive type|severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency|severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-POSITIVE, NK cell-NEGATIVE|T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency	http://purl.obolibrary.org/obo/MONDO_0010938	http://identifiers.org/snomedct/718107000|http://identifiers.org/mesh/C563440|Orphanet:35078|https://omim.org/entry/600802|UMLS:C1833275|UMLS:C4273742	ordo_disease
MONDO:0010937	biolink:Disease	isoproterenol-mediated vasodilatation		UMLS:C1833276|OMIM:600801	mondo.json	isoproterenol-mediated vasodilatation	http://purl.obolibrary.org/obo/MONDO_0010937	https://omim.org/entry/600801|UMLS:C1833276	
MONDO:0022918	biolink:Disease	obsolete cytokine deficiency	OBSOLETE. A disease that has its basis in the disruption of cytokine activity.	GARD:0009529	mondo.json	disorder of cytokine activity|cytokine activity disease	http://purl.obolibrary.org/obo/MONDO_0022918		
MONDO:0022919	biolink:Disease	cytokine receptor deficiency	A disease that has its basis in the disruption of cytokine receptor activity.	GARD:0009530	mondo.json	disorder of cytokine receptor activity|cytokine receptor activity disease	http://purl.obolibrary.org/obo/MONDO_0022919		gard_rare
HGNC:2372	biolink:NamedThing	MED23			mondo.json		http://identifiers.org/hgnc/2372		
UBERON:0004161	biolink:AnatomicalEntity	septum transversum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004161		
MONDO:0010941	biolink:Disease	nocturnal enuresis, 2	Nocturnal enuresis where the child has been dry for at least 6 months but enuresis has recurred.	UMLS:C1833268|MESH:C563439|OMIM:600808	mondo.json	enuresis, nocturnal, 2|ENUR2	http://purl.obolibrary.org/obo/MONDO_0010941	http://identifiers.org/mesh/C563439|https://omim.org/entry/600808|UMLS:C1833268	
MONDO:0010940	biolink:Disease	inherited susceptibility to asthma		OMIM:600807	mondo.json	asthma-related traits, susceptibility to|asthma, diminished response to Antileukotriene treatment 1N|asthma, nocturnal, susceptibility to|asthma, protection against|asthma, susceptibility to|asthma, bronchial	http://purl.obolibrary.org/obo/MONDO_0010940	https://omim.org/entry/600807	predisposition
UBERON:0004160	biolink:AnatomicalEntity	proepicardium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004160		
HGNC:2379	biolink:NamedThing	CRTAP			mondo.json		http://identifiers.org/hgnc/2379		
MONDO:0022912	biolink:Disease	cutis verticis gyrata mental deficiency		UMLS:C1857444|GARD:0001644	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022912		gard_rare
MONDO:0022913	biolink:Disease	cutler bass Romshe syndrome		GARD:0001646	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022913		gard_rare
HGNC:2375	biolink:NamedThing	MED17			mondo.json		http://identifiers.org/hgnc/2375		
MONDO:0022916	biolink:Disease	obsolete cystic hygroma lethal cleft palate		GARD:0001653	mondo.json	Cowchock Wapner Kurtz syndrome	http://purl.obolibrary.org/obo/MONDO_0022916		
CHR:9606-chrXp11.23-p11.22	biolink:NamedThing	Xp11.23-p11.22 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chrXp11.23-p11.22		
MONDO:0010929	biolink:Disease	craniosynostosis 4	Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene.	Orphanet:35093|Orphanet:3267|Orphanet:2343|OMIM:600775|UMLS:C3806917	mondo.json	craniosynostosis 4|ERF-related craniosynostosis|ERF craniosynostosis|craniosynostosis caused by mutation in ERF|CRS4|craniosynostosis type 4	http://purl.obolibrary.org/obo/MONDO_0010929	https://omim.org/entry/600775|UMLS:C3806917	
MONDO:0010928	biolink:Disease	dwarfism, familial, with muscle spasms		GARD:0010610|OMIM:600771|UMLS:C1833341|MESH:C563447	mondo.json	dwarfism familial with muscle spasms|dwarfism, familial, with muscle spasms|familial dwarfism and painful muscle spasms	http://purl.obolibrary.org/obo/MONDO_0010928	http://identifiers.org/mesh/C563447|https://omim.org/entry/600771|UMLS:C1833341	gard_rare
MONDO:0009959	biolink:Disease	peroxisome biogenesis disorder type 3B	A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation.	DOID:0050444|OMIM:266510	mondo.json	infantile phytanic acid storage disease|infantile Refsum disease|PBD3B|peroxisome biogenesis disorder type 3B|peroxisome biogenesis disorder 3B	http://purl.obolibrary.org/obo/MONDO_0009959	DOID:0050444|https://omim.org/entry/266510	
MONDO:0009958	biolink:Disease	adult Refsum disease	A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.	ICD9:272.8|GARD:0005691|OMIM:600964|Orphanet:773|OMIM:266500|MESH:D012035|MedDRA:10038275|UMLS:C1833022|GARD:0004371|SCTID:25362006|MESH:C535517|ICD10CM:G60.1|DOID:10582|ICD9CM:356.3|OMIM:266510	mondo.json	Refsum disease with increased pipecolic acidemia|adult Refsum disease|Refsum disease, classic|hereditary motor and sensory neuropathy 4|RDPA|Refsum disease, adult, 1|hypertrophic neuropathy of Refsum|phytanic-CoA hydroxylase deficiency|HMSN 4|HMSN type IV|heredopathia atactica polyneuritiformis|classic Refsum disease|HSMN IV|hereditary motor and sensory neuropathy type 4|disorder of cornification 11 (phytanic acid type)|adult Refsum disease due to PHYH|Refsum disease|phytanic acid oxidase deficiency|hereditary sensory and motor neuropathy type 4|Refsum's disease|DOC 11 (phytanic acid type)	http://purl.obolibrary.org/obo/MONDO_0009958	http://identifiers.org/mesh/D012035|Orphanet:773|https://omim.org/entry/266500|http://identifiers.org/meddra/10038275|http://purl.bioontology.org/ontology/ICD10CM/G60.1|DOID:10582|http://identifiers.org/snomedct/25362006	gard_rare|ordo_disease
HP:0100871	biolink:PhenotypicFeature	Abnormality of the palm	An abnormality of the palm, that is, of the front of the hand.	UMLS:C4021948	mondo.json	Abnormality of the palm	http://purl.obolibrary.org/obo/HP_0100871		
HP:0100872	biolink:PhenotypicFeature	Abnormality of the plantar skin of foot	An abnormality of the plantar part of foot, that is of the soles of the feet.	UMLS:C4020946	mondo.json	Minor feet anomalies	http://purl.obolibrary.org/obo/HP_0100872		
MONDO:0009957	biolink:Disease	Reese retinal dysplasia		GARD:0010566|UMLS:C1849450|OMIM:266400|MESH:C564854	mondo.json	Reese retinal dysplasia	http://purl.obolibrary.org/obo/MONDO_0009957	https://omim.org/entry/266400|http://identifiers.org/mesh/C564854|UMLS:C1849450	gard_rare
MONDO:0009956	biolink:Disease	red skin pigment anomaly of new guinea		MESH:C535515|UMLS:C1849451|OMIM:266350|GARD:0009757	mondo.json	red skin pigment anomaly of new guinea|Red skin pigment, New Guinea type	http://purl.obolibrary.org/obo/MONDO_0009956	https://omim.org/entry/266350|http://identifiers.org/mesh/C535515|UMLS:C1849451	gard_rare
MONDO:0009955	biolink:Disease	rapadilino syndrome	RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.	GARD:0004637|SCTID:702413000|UMLS:C1849453|DOID:0050774|OMIM:266280|MESH:C535288|Orphanet:3021|ICD9:759.89	mondo.json	rapadilino syndrome|radial and patellar hypoplasia|absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate|radial and patellar aplasia	http://purl.obolibrary.org/obo/MONDO_0009955	https://omim.org/entry/266280|http://identifiers.org/mesh/C535288|DOID:0050774|http://identifiers.org/snomedct/702413000|UMLS:C1849453|Orphanet:3021	ordo_malformation_syndrome|gard_rare
MONDO:0010921	biolink:Disease	nasal dermoid cyst	A dermoid cyst that involves the nose.	Orphanet:141103|UMLS:C1833473|OMIM:600679|MESH:C563455	mondo.json	dermoid cysts, familial frontonasal|nasal dermoid sinus cyst	http://purl.obolibrary.org/obo/MONDO_0010921	http://identifiers.org/mesh/C563455|https://omim.org/entry/600679|Orphanet:141103|UMLS:C1833473	ordo_morphological_anomaly
MONDO:0009954	biolink:Disease	Ramon syndrome		Orphanet:3019|OMIM:266270|GARD:0007523|MESH:C535285|UMLS:C0796133	mondo.json	gingival fibromatosis combined with cherubism|cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted Growth|cherubism-gingival fibromatosis-intellectual disability syndrome|Ramon syndrome	http://purl.obolibrary.org/obo/MONDO_0009954	https://omim.org/entry/266270|http://identifiers.org/mesh/C535285|Orphanet:3019|UMLS:C0796133	ordo_malformation_syndrome|gard_rare
MONDO:0009953	biolink:Disease	leukocyte adhesion deficiency type II	Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.	UMLS:C0398739|MESH:C535755|GARD:0004634|DOID:0070255|GARD:4634|NCIT:C4690|Orphanet:99843|SCTID:234583001|OMIM:266265	mondo.json	leukocyte adhesion deficiency type 2|SLC35C1-CDG|leukocyte adhesion deficiency type II|leukocyte adhesion deficiency, type 2|CDG syndrome type IIc|SLC35C1-CDG (CDG-IIc)|Rambam-Hasharon syndrome|lad-II|RHS|CDG2C|congenital disorder of glycosylation type IIC|congenital disorder of glycosylation, type IIc|LAD2|CDGIIc|CDG-IIc|sialyl-Lewis X defect|lad-type II|CDG IIc|leukocyte adhesion deficiency, type II|CDG 2C	http://purl.obolibrary.org/obo/MONDO_0009953	Orphanet:99843|https://omim.org/entry/266265|UMLS:C0398739|http://identifiers.org/mesh/C535755|DOID:0070255|NCIT:C4690|http://identifiers.org/snomedct/234583001	ordo_clinical_subtype
MONDO:0010920	biolink:Disease	microtia	A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.	GARD:0000431|MedDRA:10027555|MESH:C537772|SCTID:35045004|ICD10CM:Q17.2|Orphanet:83463|ICD9:744.23|Orphanet:93976|MESH:D065817|OMIM:600674	mondo.json	microtias, congenital|M-A|microtia, congenital|microtia-anotia|anotia|congenital microtias	http://purl.obolibrary.org/obo/MONDO_0010920	Orphanet:83463|http://identifiers.org/mesh/D065817|http://purl.bioontology.org/ontology/ICD10CM/Q17.2|https://omim.org/entry/600674|http://identifiers.org/snomedct/35045004	ordo_morphological_anomaly
MONDO:0010923	biolink:Disease	proximal myopathy with focal depletion of mitochondria		MESH:C563453|UMLS:C1833453|OMIM:600706|Orphanet:521305	mondo.json	proximal myopathy with focal depletion of mitochondria	http://purl.obolibrary.org/obo/MONDO_0010923	http://identifiers.org/mesh/C563453|https://omim.org/entry/600706|Orphanet:521305|UMLS:C1833453	ordo_disease
MONDO:0009952	biolink:Disease	radioulnar synostosis-developmental delay-hypotonia syndrome	Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).	MESH:C538217|Orphanet:3270|OMIM:266255|SCTID:721883006|MESH:C564856|GARD:0001810	mondo.json	unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance|Der Kaloustian-McIntosh-Silver syndrome|unilateral radio-ulnar synostosis, generalized hypotonia, developintellectual disability, and a characteristic facial appearance|radioulnar synostosis, unilateral, with developmental retardation and hypotonia|radioulnar synostosis with developmental delay and hypotonia syndrome|radioulnar synostosis, unilateral, with developintellectual disability and hypotonia|der Kaloustian mcintosh silver syndrome	http://purl.obolibrary.org/obo/MONDO_0009952	https://omim.org/entry/266255|http://identifiers.org/mesh/C564856|http://identifiers.org/snomedct/721883006|Orphanet:3270|http://identifiers.org/mesh/C538217	ordo_malformation_syndrome|gard_rare
GO:0140678	biolink:NamedThing	molecular function inhibitor activity	A molecular function regulator that inhibits or decreases the activity of its target via non-covalent binding that does not result in covalent modification to the target.		mondo.json		http://purl.obolibrary.org/obo/GO_0140678		
MONDO:0009951	biolink:Disease	radiculoneuropathy, fatal neonatal		UMLS:C1849471|OMIM:266250|MESH:C564857	mondo.json	Radiculoneuropathy, fatal neonatal	http://purl.obolibrary.org/obo/MONDO_0009951	https://omim.org/entry/266250|UMLS:C1849471|http://identifiers.org/mesh/C564857	
MONDO:0010922	biolink:Disease	Satoyoshi syndrome	Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system.	MedDRA:10070579|Orphanet:3130|UMLS:C1833454|OMIM:600705|SCTID:763630007|GARD:0000160|MESH:C536616	mondo.json	Satoyoshi syndrome|Komuragaeri disease|muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities|muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities	http://purl.obolibrary.org/obo/MONDO_0010922	http://identifiers.org/mesh/C536616|https://omim.org/entry/600705|Orphanet:3130|UMLS:C1833454|http://identifiers.org/snomedct/763630007	ordo_disease|gard_rare
GO:0140677	biolink:NamedThing	molecular function activator activity	A molecular function regulator that activates or increases the activity of its target via non-covalent binding that does not result in covalent modification to the target.		mondo.json		http://purl.obolibrary.org/obo/GO_0140677		
MONDO:0010925	biolink:Disease	velo-facial-skeletal syndrome	Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.	MESH:C536536|GARD:0005469|SCTID:763616002|UMLS:C1833380|OMIM:600736|Orphanet:3424	mondo.json	VELOFACIOSKELETAL syndrome	http://purl.obolibrary.org/obo/MONDO_0010925	http://identifiers.org/mesh/C536536|http://identifiers.org/snomedct/763616002|https://omim.org/entry/600736|Orphanet:3424|UMLS:C1833380	ordo_malformation_syndrome
MONDO:0009950	biolink:Disease	pyruvate kinase deficiency of red cells	Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia.	GARD:0007514|OMIM:266200|MESH:C564858|UMLS:C0340968|NCIT:C99037|DOID:0111077|SCTID:124331002|Orphanet:766	mondo.json	hemolytic anemia due to red cell pyruvate kinase deficiency|pyruvate kinase deficiency of erythrocyte|hemolytic Anemia due to pyruvate Kinase deficiency|pyruvate kinase deficiency|pyruvate kinase deficiency of red cells|PK deficiency|pyruvate kinase deficiency of erythrocytes|Pk deficiency	http://purl.obolibrary.org/obo/MONDO_0009950	https://omim.org/entry/266200|Orphanet:766|NCIT:C99037|http://identifiers.org/mesh/C564858|UMLS:C0340968|http://identifiers.org/snomedct/124331002|DOID:0111077	ordo_disease
MONDO:0010924	biolink:Disease	D-2-hydroxyglutaric aciduria	D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.	DOID:0050575|UMLS:CN233040|GARD:0005661|UMLS:C1833429|Orphanet:79315|SCTID:237960000|OMIMPS:600721	mondo.json	D-2-hydroxyglutaric acidemia|D-2-HGA|D2HGA|D2HA|D-2-hydroxyglutaric aciduria 1|D-2-hydroxyglutaric aciduria type 1	http://purl.obolibrary.org/obo/MONDO_0010924	DOID:0050575|Orphanet:79315|http://identifiers.org/snomedct/237960000|UMLS:CN233040|https://omim.org/phenotypicSeries/PS600721|UMLS:C1833429	prototype_pattern|ordo_disease
MONDO:0010927	biolink:Disease	orofacial cleft 3		DOID:0080397|MESH:C563448|OMIM:600757|UMLS:C1833369	mondo.json	cleft lip with or without cleft palate, nonsyndromic, 3|OFC3|orofacial cleft 3	http://purl.obolibrary.org/obo/MONDO_0010927	DOID:0080397|http://identifiers.org/mesh/C563448|https://omim.org/entry/600757|UMLS:C1833369	
MONDO:0010926	biolink:Disease	familial hypocalciuric hypercalcemia 3	Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene.	UMLS:C1833372|Orphanet:101050|MESH:C537147|OMIM:600740|DOID:0060702|GARD:0002878	mondo.json	hypercalcemia, familial benign, Oklahoma type|FHH type 3|familial benign hypercalcemia, Oklahoma variant|familial benign hypercalcemia, type 3|familial hypocalciuric hypercalcemia type 3|hypocalciuric hypercalcemia type III|FBHOk|HHC3|hypercalcemia, familial benign, type 3|hypocalciuric hypercalcemia, familial, type 3|hpocalciuric hypercalcemia, type III|hypocalciuric hypercalcemia, familial, type III|AP2S1 familial hypocalciuric hypercalcemia|FBH3|familial hypocalciuric hypercalcemia caused by mutation in AP2S1	http://purl.obolibrary.org/obo/MONDO_0010926	Orphanet:101050|DOID:0060702|https://omim.org/entry/600740|UMLS:C1833372|http://identifiers.org/mesh/C537147	ordo_etiological_subtype
MONDO:0022907	biolink:Disease	cutaneous sclerosis		GARD:0009752	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022907		gard_rare
HGNC:2384	biolink:NamedThing	CRY1			mondo.json		http://identifiers.org/hgnc/2384		
MONDO:0022908	biolink:Disease	cutis gyratum acanthosis nigricans craniosynostosis		GARD:0001635	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022908		gard_rare
HGNC:2383	biolink:NamedThing	CRX			mondo.json		http://identifiers.org/hgnc/2383		
MONDO:0022909	biolink:Disease	cutis laxa osteoporosis		GARD:0001637	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022909		gard_rare
UBERON:0004151	biolink:AnatomicalEntity	cardiac chamber			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004151		
MONDO:0010930	biolink:Disease	anophthalmia plus syndrome	Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.	UMLS:C1833339|GARD:0000719|SCTID:720496006|OMIM:600776|MESH:C537767|Orphanet:1104	mondo.json	Leichtman Wood Rohn syndrome|anophthalmia-plus syndrome|Fryns anophthalmia syndrome|Fryns microphthalmia syndrome|microphthalmia with facial clefting|anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder	http://purl.obolibrary.org/obo/MONDO_0010930	https://omim.org/entry/600776|UMLS:C1833339|http://identifiers.org/snomedct/720496006|Orphanet:1104|http://identifiers.org/mesh/C537767	ordo_malformation_syndrome|gard_rare
MONDO:0022900	biolink:Disease	athyreotic congenital hypothyroidism	Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia)	GARD:0001610	mondo.json	cretinism athyreotic	http://purl.obolibrary.org/obo/MONDO_0022900		gard_rare
MONDO:0022901	biolink:Disease	Crohn disease of the esophagus	An Crohn disease involving a pathogenic inflammatory response in the esophagus.	GARD:0000203|UMLS:C0341116	mondo.json	Crohn's disease of the esophagus	http://purl.obolibrary.org/obo/MONDO_0022901	UMLS:C0341116	gard_rare
HGNC:2389	biolink:NamedThing	CRYAB			mondo.json		http://identifiers.org/hgnc/2389		
HGNC:2388	biolink:NamedThing	CRYAA			mondo.json		http://identifiers.org/hgnc/2388		
MONDO:0022904	biolink:Disease	cryofibrinogenemia		MESH:C536218|SCTID:10934005|UMLS:C0272263|ICD9:286.9|GARD:0009908	mondo.json	cryofibrinogenemia	http://purl.obolibrary.org/obo/MONDO_0022904	http://identifiers.org/mesh/C536218|http://identifiers.org/snomedct/10934005|UMLS:C0272263	gard_rare
UBERON:0006717	biolink:AnatomicalEntity	autopodial skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006717		
UBERON:0006716	biolink:AnatomicalEntity	mesopodium region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006716		
HP:0002410	biolink:PhenotypicFeature	Aqueductal stenosis	Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.	MSH:D006849|UMLS:C2936786	mondo.json	Aqueduct stenosis|Narrowing of aqueduct of Sylvius|Aqueduct of Sylvius stenosis	http://purl.obolibrary.org/obo/HP_0002410		
HP:0002414	biolink:PhenotypicFeature	Spina bifida	Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.	SNOMEDCT_US:67531005|Fyler:4157|UMLS:C0080178|MSH:D016135	mondo.json	Split spine	http://purl.obolibrary.org/obo/HP_0002414		
UBERON:0006723	biolink:AnatomicalEntity	cochlear modiolus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006723		
GO:0032941	biolink:NamedThing	secretion by tissue	The controlled release of a substance by a tissue.		mondo.json	expulsion of gland contents|tissue secretion	http://purl.obolibrary.org/obo/GO_0032941		
GO:0005342	biolink:NamedThing	organic acid transmembrane transporter activity	Enables the transfer of organic acids from one side of a membrane to the other. Organic acids are acidic compound containing carbon in covalent linkage.		mondo.json		http://purl.obolibrary.org/obo/GO_0005342		
GO:0032940	biolink:NamedThing	secretion by cell	The controlled release of a substance by a cell.		mondo.json	cellular secretion	http://purl.obolibrary.org/obo/GO_0032940		
NCBITaxon:6179	biolink:OrganismalEntity	Digenea <flatworms>		GC_ID:1	mondo.json	flukes|Digenea	http://purl.obolibrary.org/obo/NCBITaxon_6179		
UBERON:0006715	biolink:AnatomicalEntity	radio-ulna			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006715		
NCBITaxon:6178	biolink:OrganismalEntity	Trematoda		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6178		
HGNC:4908	biolink:NamedThing	HIBCH			mondo.json		http://identifiers.org/hgnc/4908		
GO:0019955	biolink:NamedThing	cytokine binding	Binding to a cytokine, any of a group of proteins that function to control the survival, growth and differentiation of tissues and cells, and which have autocrine and paracrine activity.		mondo.json	IL binding|interleukin binding	http://purl.obolibrary.org/obo/GO_0019955		
GO:0019953	biolink:NamedThing	sexual reproduction	A type of reproduction that combines the genetic material of two gametes (such as a sperm or egg cell or fungal spores). The gametes have an haploid genome (with a single set of chromosomes, the product of a meiotic division) and combines with one another to produce a zygote (diploid).		mondo.json		http://purl.obolibrary.org/obo/GO_0019953		
HGNC:4912	biolink:NamedThing	HINT1			mondo.json		http://identifiers.org/hgnc/4912		
HGNC:4913	biolink:NamedThing	HIP1			mondo.json		http://identifiers.org/hgnc/4913		
HGNC:4921	biolink:NamedThing	HIVEP2			mondo.json		http://identifiers.org/hgnc/4921		
HGNC:4922	biolink:NamedThing	HK1			mondo.json		http://identifiers.org/hgnc/4922		
NCBITaxon:6157	biolink:OrganismalEntity	Platyhelminthes		GC_ID:1	mondo.json	flatworm|flatworms|flatworms	http://purl.obolibrary.org/obo/NCBITaxon_6157		
PATO:0002468	biolink:NamedThing	distensible	A structure quality inhering in a bearer by virtue of the bearer's being capable of swelling or stretching.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002468		
GO:0150075	biolink:NamedThing	negative regulation of protein-glutamine gamma-glutamyltransferase activity	Any process that stops, prevents or reduces the frequency, rate or extent of protein-glutamine gamma-glutamyltransferase activity.		mondo.json		http://purl.obolibrary.org/obo/GO_0150075		
GO:0150074	biolink:NamedThing	positive regulation of protein-glutamine gamma-glutamyltransferase activity	Any process that activates or increases the frequency, rate or extent of protein-glutamine gamma-glutamyltransferase activity.		mondo.json		http://purl.obolibrary.org/obo/GO_0150074		
GO:0150073	biolink:NamedThing	regulation of protein-glutamine gamma-glutamyltransferase activity	Any process that modulates the frequency, rate or extent of protein-glutamine gamma-glutamyltransferase activity.		mondo.json		http://purl.obolibrary.org/obo/GO_0150073		
MONDO:0044299	biolink:Disease	myasthenic syndrome, congenital, 22		UMLS:C4479088|OMIM:616224|DOID:0080587	mondo.json	CMS22|myasthenic syndrome, congenital, 22|Prepl deficiency	http://purl.obolibrary.org/obo/MONDO_0044299	https://omim.org/entry/616224|UMLS:C4479088|DOID:0080587	
UBERON:0006761	biolink:AnatomicalEntity	corneo-scleral junction			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006761		
UBERON:0004100	biolink:AnatomicalEntity	renal collecting system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004100		
PATO:0002462	biolink:NamedThing	collagenous	A composition quality inhering in an bearer by virtue of the bearer's consisting of collagen.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002462		
HP:0002459	biolink:PhenotypicFeature	obsolete Dysautonomia			mondo.json		http://purl.obolibrary.org/obo/HP_0002459		
HGNC:4931	biolink:NamedThing	HLA-A			mondo.json		http://identifiers.org/hgnc/4931		
HGNC:4932	biolink:NamedThing	HLA-B			mondo.json		http://identifiers.org/hgnc/4932		
HGNC:4933	biolink:NamedThing	HLA-C			mondo.json		http://identifiers.org/hgnc/4933		
UBERON:0004108	biolink:AnatomicalEntity	clivus of occipital bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004108		
UBERON:0004105	biolink:AnatomicalEntity	subungual region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004105		
NCBITaxon:91347	biolink:OrganismalEntity	Enterobacterales		PMID:27620848|GC_ID:11	mondo.json	Enterobacteriales|Enterobacteriaceae and related endosymbionts|Enterobacteriaceae group|gamma-3 proteobacteria	http://purl.obolibrary.org/obo/NCBITaxon_91347		
HP:0002450	biolink:PhenotypicFeature	Abnormal motor neuron morphology	Any structural anomaly that affects the motor neuron.	UMLS:C4025707	mondo.json	Abnormal shape of motor neuron	http://purl.obolibrary.org/obo/HP_0002450		
UBERON:0004103	biolink:AnatomicalEntity	alveolar ridge			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004103		
UBERON:0006763	biolink:AnatomicalEntity	epithelium of conjunctiva			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006763		
PATO:0002478	biolink:NamedThing	transversely striated	A shape quality inhering in a bearer by virtue of the bearer's being marked by narrow lines or grooves, usually parallel, that are oriented transversely relative to the long axis of the bearer.		mondo.json		http://purl.obolibrary.org/obo/PATO_0002478		
HP:0002463	biolink:PhenotypicFeature	Language impairment	Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.	SNOMEDCT_US:62305002|UMLS:C0023015|MSH:D007806	mondo.json	Language impairment|Language disorder	http://purl.obolibrary.org/obo/HP_0002463		
HGNC:4942	biolink:NamedThing	HLA-DQA1			mondo.json		http://identifiers.org/hgnc/4942		
HGNC:4944	biolink:NamedThing	HLA-DQB1			mondo.json		http://identifiers.org/hgnc/4944		
UBERON:0006757	biolink:AnatomicalEntity	lateral lingual swelling			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006757		
UBERON:0006756	biolink:AnatomicalEntity	median lingual swelling			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006756		
HP:0002438	biolink:PhenotypicFeature	Cerebellar malformation		UMLS:C4025708	mondo.json		http://purl.obolibrary.org/obo/HP_0002438		
HGNC:4948	biolink:NamedThing	HLA-DRB1			mondo.json		http://identifiers.org/hgnc/4948		
NCBITaxon:6182	biolink:OrganismalEntity	Schistosoma japonicum		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6182		
GO:0019915	biolink:NamedThing	lipid storage	The accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development.		mondo.json	storage of lipids|sequestering of lipids|sequestration of lipid|lipid sequestration|sequestration of lipids|lipid sequestering|lipid retention|retention of lipids	http://purl.obolibrary.org/obo/GO_0019915		
NCBITaxon:6183	biolink:OrganismalEntity	Schistosoma mansoni		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6183		
NCBITaxon:6180	biolink:OrganismalEntity	Strigeidida		GC_ID:1	mondo.json	Strigeida	http://purl.obolibrary.org/obo/NCBITaxon_6180		
NCBITaxon:6181	biolink:OrganismalEntity	Schistosoma		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6181		
HP:0002435	biolink:PhenotypicFeature	Meningocele	Protrusion of the meninges through a defect of the skull or vertebral column.	SNOMEDCT_US:171131006|MSH:D008588|UMLS:C0025299	mondo.json		http://purl.obolibrary.org/obo/HP_0002435		
CHEBI:55324	biolink:ChemicalSubstance	gastrointestinal drug	A drug used for its effects on the gastrointestinal system, e.g. controlling gastric acidity, regulating gastrointestinal motility and water flow, and improving digestion.		mondo.json	gastrointestinal agents|gastrointestinal agent|gastrointestinal drugs	http://purl.obolibrary.org/obo/CHEBI_55324		
CHEBI:55323	biolink:ChemicalSubstance	antidiarrhoeal drug	Any drug found useful in the symptomatic treatment of diarrhoea.		mondo.json	antidiarrheal drug|antiperistaltic drug|antidiarrheal agents|antiperistaltic agents|antiperistaltic agent|antidiarrheal agent|antiperistaltic drugs|antidiarrheal drugs|antiperistaltic|antidiarrhoeal agent|antidiarrhoeals|antidiarrheal|antidiarrhoeal drugs|antidiarrheals|antidiarrhoeal agents|antidiarrhoeal|antiperistaltics	http://purl.obolibrary.org/obo/CHEBI_55323		
CHEBI:57986	biolink:ChemicalSubstance	riboflavin(1-)	An organic anion that is the conjugate base of riboflavin resulting from the removal of a proton from the nitrogen at position 3 (between the two carbonyl groups). Major microspecies at pH 7.3.		mondo.json	riboflavin|vitamin B2(1-)|7,8-dimethyl-2,4-dioxo-10-[(2S,3S,4R)-2,3,4,5-tetrahydroxypentyl]-2H,3H,4H,10H-benzo[g]pteridin-3-ide|1-deoxy-1-(7,8-dimethyl-2,4-dioxo-2H-benzo[g]pteridin-3-id-10(4H)-yl)-D-ribitol|riboflavin anion	http://purl.obolibrary.org/obo/CHEBI_57986		
NCBITaxon:6187	biolink:OrganismalEntity	Schistosoma intercalatum		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6187		
CHEBI:57981	biolink:ChemicalSubstance	D-phenylalanine zwitterion	A D-alpha-amino acid zwitterion that is D-phenylalanine in which a proton has been transferred from the carboxy group to the amino group. It is the major species at pH 7.3.		mondo.json	D-phenylalanine|(2R)-2-azaniumyl-3-phenylpropanoate|(2R)-2-ammonio-3-phenylpropanoate	http://purl.obolibrary.org/obo/CHEBI_57981		
UBERON:0006742	biolink:AnatomicalEntity	canthus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006742		
GO:0150063	biolink:NamedThing	visual system development	The process whose specific outcome is the progression of the visual system over time, from its formation to the mature structure, including the eye, parts of the central nervous system (CNS) involved in processing of visual inputs, and connecting nerve pathways.		mondo.json	visual pathway development|optic pathway development	http://purl.obolibrary.org/obo/GO_0150063		
NCBITaxon:6193	biolink:OrganismalEntity	Opisthorchiida		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6193		
NCBITaxon:6194	biolink:OrganismalEntity	Opisthorchiata		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6194		
HGNC:4964	biolink:NamedThing	HLA-G			mondo.json		http://identifiers.org/hgnc/4964		
UBERON:0018707	biolink:AnatomicalEntity	bladder organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018707		
CHEBI:57977	biolink:ChemicalSubstance	bilirubin(2-)	A dicarboxylic acid dianion obtained by deprotonation of the two carboxy groups of bilirubin; major species at pH 7.3.		mondo.json	bilirubin IXalpha|2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-1,10,19,22,23,24-hexahydro-21H-biline-8,12-dipropanoate|bilirubin dianion	http://purl.obolibrary.org/obo/CHEBI_57977		
NCBITaxon:6199	biolink:OrganismalEntity	Cestoda		GC_ID:1	mondo.json	tapeworms	http://purl.obolibrary.org/obo/NCBITaxon_6199		
MONDO:0019173	biolink:Disease	rabies	Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated.	Orphanet:770|ICD10CM:A82|MESH:D011818|SCTID:14168008|DOID:11260|ICD9:071|MedDRA:10037742|GARD:0007516|NCIT:C28182|UMLS:C0034494	mondo.json	lyssa	http://purl.obolibrary.org/obo/MONDO_0019173	http://identifiers.org/snomedct/14168008|http://purl.bioontology.org/ontology/ICD10CM/A82|NCIT:C28182|Orphanet:770|http://identifiers.org/mesh/D011818|DOID:11260|UMLS:C0034494	gard_rare|ordo_disease
MONDO:0020162	biolink:Disease	secondary ectropion		Orphanet:98571	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020162	Orphanet:98571	disease_grouping|ordo_group_of_disorders
MONDO:0020161	biolink:Disease	congenital ectropion		SCTID:26590002|ICD10CM:Q10.1|Orphanet:98570	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020161	Orphanet:98570|http://purl.bioontology.org/ontology/ICD10CM/Q10.1|http://identifiers.org/snomedct/26590002	disease_grouping|ordo_group_of_disorders
MONDO:0019172	biolink:Disease	aniridia	Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia).	ICD9:743.45|GARD:0005816|MESH:D015783|DOID:12271|MedDRA:10002532|SCTID:69278003|Orphanet:77|UMLS:C0003076|NCIT:C84563	mondo.json	aplasia of iris	http://purl.obolibrary.org/obo/MONDO_0019172	NCIT:C84563|UMLS:C0003076|http://identifiers.org/mesh/D015783|http://identifiers.org/snomedct/69278003|DOID:12271|Orphanet:77	ordo_group_of_disorders|disease_grouping|gard_rare
MONDO:0020160	biolink:Disease	secondary entropion		Orphanet:98569	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020160	Orphanet:98569	disease_grouping|ordo_group_of_disorders
MONDO:0019175	biolink:Disease	primary lymphedema	A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection.	Orphanet:77240|NCIT:C48829	mondo.json	primary lymphedema|Troncular lymphatic malformation	http://purl.obolibrary.org/obo/MONDO_0019175	NCIT:C48829|Orphanet:77240	disease_grouping|ordo_group_of_disorders
MONDO:0019174	biolink:Disease	obsolete infantile Refsum disease	OBSOLETE. Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD).	MESH:D052919|SCTID:238062008|UMLS:C0282527|NCIT:C84789|OMIM:601539|Orphanet:772|GARD:0004648	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019174	NCIT:C84789|http://identifiers.org/snomedct/238062008|UMLS:C0282527|Orphanet:772|http://identifiers.org/mesh/D052919	ordo_disease
NCBITaxon:1173061	biolink:OrganismalEntity	Geotrichum candidum		GC_ID:1	mondo.json	Oospora lactis|Galactomyces geotrichum (E.E. Butler & L.J. Petersen) Redhead & Malloch, 1977|Galactomyces candidus de Hoog & M.T. Smith, 2004|Dipodascus geotrichum|Galactomyces candidus|Endomyces geotrichum	http://purl.obolibrary.org/obo/NCBITaxon_1173061		
MONDO:0019171	biolink:Disease	familial long QT syndrome	A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias.	UMLS:C1141890|SCTID:442917000|Orphanet:768|OMIMPS:192500|Orphanet:101016|UMLS:C0035828|MedDRA:10057926	mondo.json	LQTS|congenital long QT syndrome|hereditary long QT syndrome|Romano-Ward long QT syndrome|Ward-Romano syndrome|familial long QT syndrome|Romano-Ward syndrome	http://purl.obolibrary.org/obo/MONDO_0019171	UMLS:C1141890|https://omim.org/phenotypicSeries/PS192500|Orphanet:768|http://identifiers.org/snomedct/442917000|UMLS:C0035828|Orphanet:101016	clingen|ordo_disease
MONDO:0019170	biolink:Disease	polyarteritis nodosa	Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney.	SCTID:155441006|MESH:D010488|ICD9:446.0|GARD:0007360|Orphanet:767|ICD10CM:M30.0|DOID:9810|MedDRA:10036024|UMLS:C0031036|NCIT:C26847	mondo.json	panarteritis nodosa|periarteritis nodosa|polyarteritis nodosa|classic polyarteritis nodosa|polyarteritis|periarteritis|PAN|Küssmaul-Maier disease|classical polyarteritis nodosa	http://purl.obolibrary.org/obo/MONDO_0019170	UMLS:C0031036|http://purl.bioontology.org/ontology/ICD10CM/M30.0|Orphanet:767|http://identifiers.org/mesh/D010488|DOID:9810|http://identifiers.org/snomedct/155441006|NCIT:C26847	ordo_disease
MONDO:0044137	biolink:Disease	vitreous body disorder	Any disease affecting the vitreous body of the eye.	NCIT:C45256|EFO:0008624|ICD9:379.29|UMLS:C0155365|SCTID:76682005	mondo.json	vitreous body disease|vitreous body disease or disorder|vitreous body disorder|disease of vitreous body|disorder of vitreous body|disease or disorder of vitreous body	http://purl.obolibrary.org/obo/MONDO_0044137	http://identifiers.org/snomedct/76682005|NCIT:C45256|UMLS:C0155365	
MONDO:0020169	biolink:Disease	obsolete rare disorder with ptosis		Orphanet:98578|UMLS:C0005745|UMLS:C0033377|UMLS:CN207031	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020169	Orphanet:98578|UMLS:CN207031	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
GO:0042488	biolink:NamedThing	positive regulation of odontogenesis of dentin-containing tooth	Any process that activates or increases the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages that are borne on the jaws, or on other bones in the walls of the mouth or pharynx of most vertebrates.		mondo.json	activation of odontogenesis|positive regulation of odontogenesis of dentine-containing tooth|stimulation of odontogenesis|up-regulation of odontogenesis|up regulation of odontogenesis|positive regulation of odontogenesis of dentine-containing teeth|upregulation of odontogenesis	http://purl.obolibrary.org/obo/GO_0042488		
MONDO:0020168	biolink:Disease	obsolete kinetic eyelid anomaly		Orphanet:98577	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020168	Orphanet:98577	
MONDO:0020167	biolink:Disease	malposition of external canthus		Orphanet:98576	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020167	Orphanet:98576	ordo_group_of_disorders|disease_grouping
MONDO:0044138	biolink:Disease	hyalitis	Inflammatory intraocular reaction with clouding and cells in vitreous; often accompanies inflammation of ciliary body, iris, choroid, or retina.	SCTID:95802009|EFO:1001907|NCIT:C50587|UMLS:C0235812	mondo.json	vitritis|hyaloiditis|hyalitis|Vitreitis|Vitritis	http://purl.obolibrary.org/obo/MONDO_0044138	http://identifiers.org/snomedct/95802009|NCIT:C50587|UMLS:C0235812	
GO:0042487	biolink:NamedThing	regulation of odontogenesis of dentin-containing tooth	Any process that modulates the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages which are borne on the jaws, or on other bones in the walls of the mouth or pharynx of most vertebrates.		mondo.json	regulation of odontogenesis of dentine-containing teeth|regulation of odontogenesis of dentine-containing tooth	http://purl.obolibrary.org/obo/GO_0042487		
GO:0042482	biolink:NamedThing	positive regulation of odontogenesis	Any process that activates or increases the frequency, rate or extent of the formation and development of a tooth or teeth.		mondo.json	stimulation of odontogenesis|upregulation of odontogenesis|positive regulation of tooth development|up-regulation of odontogenesis|positive regulation of odontogenesis of calcareous or chitinous tooth|up regulation of odontogenesis|activation of odontogenesis	http://purl.obolibrary.org/obo/GO_0042482		
MONDO:0020166	biolink:Disease	obsolete telecanthus			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020166		
MONDO:0007188	biolink:Disease	primary basilar invagination	Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction.	Orphanet:2285|MESH:C566226|UMLS:C1862299|GARD:0001037|OMIM:109500	mondo.json	basilar impression, primary|primary basilar impression|Bull-Nixon syndrome	http://purl.obolibrary.org/obo/MONDO_0007188	https://omim.org/entry/109500|UMLS:C1862299|Orphanet:2285|http://identifiers.org/mesh/C566226	ordo_morphological_anomaly
GO:0042481	biolink:NamedThing	regulation of odontogenesis	Any process that modulates the frequency, rate or extent of the formation and development of a tooth or teeth.		mondo.json	regulation of odontogenesis of calcareous or chitinous tooth|regulation of tooth development	http://purl.obolibrary.org/obo/GO_0042481		
MONDO:0007189	biolink:Disease	obsolete B-cell growth factor		OMIM:109540	mondo.json	B-cell growth Factor 1|B-cell growth factor|BCGF	http://purl.obolibrary.org/obo/MONDO_0007189	https://omim.org/entry/109540	
MONDO:0020165	biolink:Disease	syndromic epicanthus		Orphanet:98574|UMLS:CN227805	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020165	UMLS:CN227805|Orphanet:98574	disease_grouping|ordo_group_of_disorders
MONDO:0007186	biolink:Disease	gastroesophageal reflux disease	A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa.	DOID:8534|NCIT:C26781|OMIM:109350|EFO:0003948|UMLS:C0017168|MESH:D005764|SCTID:235595009|ICD9:530.81	mondo.json	GERD|gastroesophageal reflux, pediatric|gastro-esophageal reflux|GERD - gastro-esophageal reflux disease|Gastresophageal reflux|gastroesophageal reflux disease|ger|gastroesophageal reflux|acid reflux	http://purl.obolibrary.org/obo/MONDO_0007186	https://omim.org/entry/109350|http://identifiers.org/mesh/D005764|NCIT:C26781|DOID:8534|http://identifiers.org/snomedct/235595009|UMLS:C0017168	
MONDO:0020164	biolink:Disease	epicanthal fold		Orphanet:98573	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020164	Orphanet:98573	disease_grouping|ordo_group_of_disorders
MONDO:0007187	biolink:Disease	nevoid basal cell carcinoma syndrome	A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.	NCIT:C2892|Orphanet:377|SCTID:69408002|GARD:0007166|DOID:2512|OMIM:109400|MedDRA:10062804|MESH:D001478|UMLS:C0004779	mondo.json	multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies|Gorlin-Goltz syndrome|BCNS|NBCCS|basal cell nevus syndrome|nevoid basal cell carcinoma syndrome|nevoid basal cell cancer syndrome|Gorlin syndrome|multiple basal cell carcinomas	http://purl.obolibrary.org/obo/MONDO_0007187	https://omim.org/entry/109400|UMLS:C0004779|http://identifiers.org/mesh/D001478|NCIT:C2892|http://identifiers.org/snomedct/69408002|Orphanet:377|DOID:2512	clingen|ordo_malformation_syndrome
GO:0042483	biolink:NamedThing	negative regulation of odontogenesis	Any process that stops, prevents, or reduces the frequency, rate or extent of the formation and development of a tooth or teeth.		mondo.json	down-regulation of odontogenesis|down regulation of odontogenesis|negative regulation of odontogenesis of calcareous or chitinous tooth|negative regulation of tooth development|inhibition of odontogenesis|downregulation of odontogenesis	http://purl.obolibrary.org/obo/GO_0042483		
MONDO:0020163	biolink:Disease	canthal anomaly		Orphanet:98572	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020163	Orphanet:98572	disease_grouping|ordo_group_of_disorders
MONDO:0007184	biolink:Disease	alopecia, androgenetic, 1		OMIM:109200	mondo.json	alopecia, androgenetic, 1|AGA1|baldness, Male pattern	http://purl.obolibrary.org/obo/MONDO_0007184	https://omim.org/entry/109200	
MONDO:0007185	biolink:Disease	Banki syndrome	Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.	GARD:0000813|Orphanet:1228|MESH:C566228|SCTID:733093004|UMLS:C1862319|OMIM:109300	mondo.json	fusion of the lunate and cuneiform bones of the wrist, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis)|Banki syndrome	http://purl.obolibrary.org/obo/MONDO_0007185	https://omim.org/entry/109300|UMLS:C1862319|http://identifiers.org/mesh/C566228|Orphanet:1228|http://identifiers.org/snomedct/733093004	gard_rare|ordo_malformation_syndrome
MONDO:0007182	biolink:Disease	Machado-Joseph disease	Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.	Orphanet:98757|UMLS:C0024408|OMIM:109150|SCTID:91952008|GARD:0006801|NCIT:C84830|DOID:1440|MESH:D017827|ICD9:336.8	mondo.json	Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia|Nigrospinodentatal Degeneration|spinocerebellar ataxia 3|SCA3|Spinopontine atrophy|Azorean disease of the nervous system|Azorean disease|Machado-Joseph disease|spinocerebellar ataxia type 3|MJD|spinocerebellar atrophy type 3|spinocerebellar atrophy 3|autosomal dominant striatonigral degeneration|Azorean neurologic disease|Machado disease	http://purl.obolibrary.org/obo/MONDO_0007182	http://identifiers.org/mesh/D017827|NCIT:C84830|Orphanet:98757|UMLS:C0024408|http://identifiers.org/snomedct/91952008|DOID:1440|https://omim.org/entry/109150	ordo_disease
MONDO:0007183	biolink:Disease	azotemia, familial		OMIM:109160|MESH:C566233|UMLS:C1862358	mondo.json	azotemia, familial	http://purl.obolibrary.org/obo/MONDO_0007183	UMLS:C1862358|http://identifiers.org/mesh/C566233|https://omim.org/entry/109160	
MONDO:0007180	biolink:Disease	Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities		OMIM:109120|Orphanet:1831|MESH:C566234|UMLS:C1862373	mondo.json	De Hauwere syndrome|Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities|iris dysplasia with ocular hypertelorism, psychomotor retardation, and sensorineural deafness	http://purl.obolibrary.org/obo/MONDO_0007180	UMLS:C1862373|http://identifiers.org/mesh/C566234|Orphanet:1831|https://omim.org/entry/109120	
MONDO:0007181	biolink:Disease	axial osteomalacia		GARD:0008431|OMIM:109130|MESH:C537791|DOID:0080039|UMLS:C1862372	mondo.json	axial osteomalacia|atypical osteomalacia involving the axial skeleton	http://purl.obolibrary.org/obo/MONDO_0007181	UMLS:C1862372|DOID:0080039|http://identifiers.org/mesh/C537791|https://omim.org/entry/109130	gard_rare
GO:0042489	biolink:NamedThing	negative regulation of odontogenesis of dentin-containing tooth	Any process that stops, prevents, or reduces the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages which are borne on the jaws, or on other bones in the walls of the mouth or pharynx.		mondo.json	negative regulation of odontogenesis of dentine-containing teeth|down regulation of odontogenesis|negative regulation of odontogenesis of dentine-containing tooth|downregulation of odontogenesis|inhibition of odontogenesis|down-regulation of odontogenesis|negative regulation of odontogenesis	http://purl.obolibrary.org/obo/GO_0042489		
MONDO:0019177	biolink:Disease	odontoleukodystrophy	Leukodystrophy with oligodontia is characterised by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	GARD:0009632|OMIM:607694|Orphanet:77295|SCTID:722064003	mondo.json	dentoleukoencephalopathy|leukodystrophy with oligodontia	http://purl.obolibrary.org/obo/MONDO_0019177	Orphanet:77295|http://identifiers.org/snomedct/722064003	ordo_disease
MONDO:0019176	biolink:Disease	trichorhinophalangeal syndrome type I or III	Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.	UMLS:CN205736|Orphanet:77258	mondo.json	trichorhinophalangeal syndrome type 1 and 3	http://purl.obolibrary.org/obo/MONDO_0019176	Orphanet:77258|UMLS:CN205736	ordo_malformation_syndrome
MONDO:0019179	biolink:Disease	monosomy 9q22.3	Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.	Orphanet:77301|UMLS:C3711390|SCTID:724098008|MESH:C579873	mondo.json	microdeletion 9q22.3	http://purl.obolibrary.org/obo/MONDO_0019179	Orphanet:77301|http://identifiers.org/mesh/C579873|UMLS:C3711390|http://identifiers.org/snomedct/724098008	ordo_malformation_syndrome
MONDO:0019178	biolink:Disease	auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome	The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities.	Orphanet:77300|UMLS:CN205748	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019178	Orphanet:77300|UMLS:CN205748	ordo_malformation_syndrome
MONDO:0019162	biolink:Disease	pseudohypoaldosteronism type 2	A rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function.	UMLS:C1449844|ICD9:588.89|NCIT:C123252|Orphanet:757|GARD:0004553|OMIMPS:145260|SCTID:15689008	mondo.json	PHAII|PHA2|chloride shunt syndrome|Spitzer-Weinstein syndrome|familial hyperkalemic hypertension|hyperpotassemia and hypertension familial|pseudohypoaldosteronism, type II|pseudohypoaldosteronism, type 2|hyperkalemia-hypertension syndrome, Gordon type|hypertensive hyperkalemia|Gordon syndrome|mineralocorticoid resistant hyperkalemia|Gordon hyperkalemia-hypertension syndrome	http://purl.obolibrary.org/obo/MONDO_0019162	NCIT:C123252|UMLS:C1449844|https://omim.org/phenotypicSeries/PS145260|Orphanet:757|http://identifiers.org/snomedct/15689008	ordo_disease
MONDO:0020151	biolink:Disease	obsolete rare palpebral disease	OBSOLETE. Any of the forms of eyelid disease that have a rare incidence.	Orphanet:98560	mondo.json	rare eyelid disease	http://purl.obolibrary.org/obo/MONDO_0020151	Orphanet:98560	
MONDO:0019161	biolink:Disease	pseudohypoaldosteronism type 1	Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration.	ICD9:275.8|SCTID:43941006|Orphanet:756|NCIT:C123251|UMLS:C0268436	mondo.json	PHA1B|PHA type 1|pseudohypoaldosteronism type I autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0019161	NCIT:C123251|UMLS:C0268436|http://identifiers.org/snomedct/43941006|Orphanet:756	ordo_disease
MONDO:0020150	biolink:Disease	obsolete obsolete rare palpebral, lacrimal system and conjunctival disease		Orphanet:98559|UMLS:CN207025	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020150	Orphanet:98559|UMLS:CN207025	
MONDO:0019164	biolink:Disease	6q terminal deletion syndrome	6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.	SCTID:719666002|UMLS:CN205719|UMLS:C4304514|Orphanet:75857	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019164	UMLS:CN205719|Orphanet:75857|UMLS:C4304514|http://identifiers.org/snomedct/719666002	ordo_malformation_syndrome
MONDO:0019163	biolink:Disease	obsolete pseudoxanthoma elasticum			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019163		
MONDO:0044141	biolink:Disease	panic disorder without agoraphobia	A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder.	NCIT:C97193|EFO:1001906|SCTID:56576003	mondo.json	panic disorder without agoraphobia	http://purl.obolibrary.org/obo/MONDO_0044141	http://identifiers.org/snomedct/56576003|NCIT:C97193	
MONDO:0019160	biolink:Disease	primary progressive freezing gait	Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments.	UMLS:C4275078|SCTID:715627004|UMLS:CN205712|Orphanet:75567	mondo.json	PPFG	http://purl.obolibrary.org/obo/MONDO_0019160	UMLS:CN205712|UMLS:C4275078|Orphanet:75567|http://identifiers.org/snomedct/715627004	ordo_clinical_syndrome
MONDO:0020159	biolink:Disease	congenital entropion		SCTID:20392000|MedDRA:10014923|Orphanet:98568	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020159	http://identifiers.org/snomedct/20392000	disease_grouping|ordo_group_of_disorders
MONDO:0020158	biolink:Disease	eyelids malposition disorder		UMLS:CN227803|Orphanet:98567	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020158	UMLS:CN227803|Orphanet:98567	ordo_group_of_disorders|disease_grouping
MONDO:0020157	biolink:Disease	syndromic palpebral coloboma		UMLS:CN227802|Orphanet:98566	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020157	UMLS:CN227802|Orphanet:98566	ordo_group_of_disorders|disease_grouping
MONDO:0020156	biolink:Disease	syndromic ankyloblepharon		UMLS:CN227801|Orphanet:98565	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020156	UMLS:CN227801|Orphanet:98565	ordo_group_of_disorders|disease_grouping
MONDO:0020155	biolink:Disease	eyelid border anomaly		Orphanet:98564	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020155	Orphanet:98564	ordo_group_of_disorders|disease_grouping
MONDO:0044144	biolink:Disease	panic disorder with agoraphobia	A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder.	NCIT:C97194|SCTID:35607004	mondo.json	panic disorder with agoraphobia	http://purl.obolibrary.org/obo/MONDO_0044144	NCIT:C97194|http://identifiers.org/snomedct/35607004	
MONDO:0007199	biolink:Disease	blepharochalasis, superior		UMLS:C1862275|OMIM:110000|MESH:C566223	mondo.json	blepharochalasis, superior	http://purl.obolibrary.org/obo/MONDO_0007199	UMLS:C1862275|https://omim.org/entry/110000|http://identifiers.org/mesh/C566223	
GO:0042493	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0042493		
MONDO:0020154	biolink:Disease	microblepharon-ablephara syndrome		UMLS:CN237783|Orphanet:98563	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020154	Orphanet:98563|UMLS:CN237783	disease_grouping|ordo_group_of_disorders
MONDO:0007197	biolink:Disease	bladder diverticulum		ICD9:596.3|DOID:11353|MESH:C562406|ICD10CM:N32.3|HP:0000015|SCTID:197866008|OMIM:109820	mondo.json	diverticulum - bladder|bladder diverticulum (disease)|diverticulum of bladder|bladder diverticulum	http://purl.obolibrary.org/obo/MONDO_0007197	https://omim.org/entry/109820|http://purl.bioontology.org/ontology/ICD10CM/N32.3|DOID:11353|http://identifiers.org/snomedct/197866008|http://identifiers.org/mesh/C562406	
MONDO:0020153	biolink:Disease	cryptophthalmia	A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure.	NCIT:C124520|SCTID:400951005|DOID:0111716|ICD9:743.06|Orphanet:98562|GARD:0010505	mondo.json	cryptophthalmos	http://purl.obolibrary.org/obo/MONDO_0020153	http://identifiers.org/snomedct/400951005|Orphanet:98562|DOID:0111716|NCIT:C124520	disease_grouping|ordo_group_of_disorders
MONDO:0007198	biolink:Disease	Ascher syndrome	Ascher syndrome is a very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.	ICD9:246.8|UMLS:C0339085|Orphanet:1253|MESH:C562742|OMIM:109900|ICD9:374.89|GARD:0000201|SCTID:28599006	mondo.json	Ascher's syndrome|blepharochalasis - double lip|Ascher syndrome|blepharochalasis-double lip syndrome|Double upper lip, blepharochalasis and enlargement of the thyroid|blepharochalasis and double lip|blepharochalasis and DOUBLE LIP|blepharochalasis and Double lip|blepharochalasis and Double type lip	http://purl.obolibrary.org/obo/MONDO_0007198	http://identifiers.org/mesh/C562742|https://omim.org/entry/109900|http://identifiers.org/snomedct/28599006|Orphanet:1253|UMLS:C0339085	gard_rare|ordo_malformation_syndrome
MONDO:0020152	biolink:Disease	obsolete rare eyelid malformation		Orphanet:98561	mondo.json	eyelid malformation	http://purl.obolibrary.org/obo/MONDO_0020152	Orphanet:98561	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0007195	biolink:Disease	bifid nose, autosomal dominant		UMLS:C2751431|OMIM:109740	mondo.json	bifid nose, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007195	https://omim.org/entry/109740|UMLS:C2751431	
NCBITaxon:742845	biolink:OrganismalEntity	Malasseziaceae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_742845		
MONDO:0007196	biolink:Disease	obsolete bladder cancer			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007196		
MONDO:0007193	biolink:Disease	primary biliary cholangitis 1		OMIM:109720|UMLS:CN029380	mondo.json	PBC1|Pbc|biliary cirrhosis, primary, 1	http://purl.obolibrary.org/obo/MONDO_0007193	https://omim.org/entry/109720|UMLS:CN029380	
MONDO:0007194	biolink:Disease	familial bicuspid aortic valve	A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).	Orphanet:402075|DOID:0080332|OMIMPS:109730|UMLS:C0428791	mondo.json	aortic valve disease 1|AOVD1|aortic valve disease type 1|familial BAV	http://purl.obolibrary.org/obo/MONDO_0007194	https://omim.org/phenotypicSeries/PS109730|DOID:0080332|Orphanet:402075	ordo_morphological_anomaly
MONDO:0007191	biolink:Disease	Behcet disease	A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.	MESH:D001528|UMLS:C0004943|EFO:0003780|DOID:13241|OMIM:109650|Orphanet:117|MedDRA:10004213|ICD9:136.1|SCTID:310701003|GARD:0000848|NCIT:C34416	mondo.json	Behçet-Adamantiades syndrome|BD|Behçet syndrome|triple symptom complex|Behçet disease|Behcet's syndrome|Adamantiades-Behcet disease|Behcet disease|Bechet syndrome|Behcet's disease|Behet's syndrome|silk road disease|Behcet syndrome|Behçet's disease|Behçet’s disease|Morbus Behçet's syndrome|Behçet's syndrome	http://purl.obolibrary.org/obo/MONDO_0007191	UMLS:C0004943|http://identifiers.org/mesh/D001528|Orphanet:117|NCIT:C34416|DOID:13241|http://identifiers.org/snomedct/310701003|https://omim.org/entry/109650	ordo_disease
MONDO:0007192	biolink:Disease	beta-amino acids, renal transport of		UMLS:C1862289|OMIM:109660	mondo.json	AABT|taurine renal reabsorption|BETA-amino acids, renal TRANSPORT OF	http://purl.obolibrary.org/obo/MONDO_0007192	UMLS:C1862289|https://omim.org/entry/109660	
MONDO:0007190	biolink:Disease	leukemia, chronic lymphocytic, susceptibility to, 2		OMIM:109543	mondo.json	leukemia, chronic lymphocytic, B-cell|Clls2|leukemia, chronic lymphocytic, susceptibility to, type 2|disrupted in B-cell malignancy|B-cell malignancy, low-grade|leukemia, chronic lymphocytic, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0007190	https://omim.org/entry/109543	predisposition
MONDO:0020149	biolink:Disease	obsolete rare eye disease due to a differentiation anomaly		Orphanet:98558|UMLS:CN207024	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020149	Orphanet:98558|UMLS:CN207024	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0019169	biolink:Disease	pyruvate dehydrogenase deficiency	Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency.	GARD:0007513|DOID:3649|SCTID:46683007|OMIMPS:312170|NCIT:C103968|EFO:0007459|ICD9:277.89|Orphanet:765	mondo.json	PDHC|deficiency of pyruvic dehydrogenase|pyruvate decarboxylase deficiency|pyruvate dehydrogenase deficiency|pyruvate dehydrogenase complex deficiency disease|PDH|pyruvate dehydrogenase complex deficiency	http://purl.obolibrary.org/obo/MONDO_0019169	DOID:3649|https://omim.org/phenotypicSeries/PS312170|http://identifiers.org/snomedct/46683007|Orphanet:765|NCIT:C103968	ordo_disease
MONDO:0019166	biolink:Disease	obsolete strongyloidiasis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019166		
MONDO:0019165	biolink:Disease	central precocious puberty	Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys).	UMLS:C0342543|MESH:C562787|ICD9:259.1|OMIMPS:176400|Orphanet:759|SCTID:237816004	mondo.json	gonadotropin-dependent precocious puberty|gonadotropin-dependant precocious puberty|CPP|precocious puberty, central	http://purl.obolibrary.org/obo/MONDO_0019165	http://identifiers.org/mesh/C562787|http://identifiers.org/snomedct/237816004|https://omim.org/phenotypicSeries/PS176400|Orphanet:759|UMLS:C0342543	ordo_disease
MONDO:0019168	biolink:Disease	pyomyositis	Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation.	Orphanet:764|ICD9:040.81|EFO:1001409|SCTID:65110003|NCIT:C128382|UMLS:C0041188|UMLS:C1704275|MESH:D052880|GARD:0004614|MedDRA:10037652|DOID:876	mondo.json	PM|myositis purulenta tropica|myositis tropicans|tropical pyomyositis|suppurative myositis	http://purl.obolibrary.org/obo/MONDO_0019168	UMLS:C1704275|http://identifiers.org/mesh/D052880|http://identifiers.org/snomedct/65110003|UMLS:C0041188|NCIT:C128382|DOID:876|Orphanet:764	ordo_disease|gard_rare
MONDO:0019167	biolink:Disease	immunoglobulin a vasculitis	A systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement.	GARD:0008204|MESH:D011695|Orphanet:761|SCTID:86074002|EFO:1000965|DOID:11123|NCIT:C34963|ICD9:287.0|SCTID:191306005	mondo.json	allergic purpura|anaphylactoid purpura|purpura, autoimmune|HSP|Henoch-Schonlein purpura|Schoenlein-Henoch purpura|autoimmune purpura|Henoch Schonlein purpura|IgA vasculitis|Henoch-Schoenlein purpura|rheumatoid purpura|Henoch-Scholein purpura|vascular purpura|purpura rheumatica|purpura, Schonlein-Henoch	http://purl.obolibrary.org/obo/MONDO_0019167	http://identifiers.org/snomedct/86074002|DOID:11123|Orphanet:761|NCIT:C34963|http://identifiers.org/snomedct/191306005|http://identifiers.org/mesh/D011695	ordo_disease
MONDO:0019151	biolink:Disease	oligocone trichromacy	Oligocone trichromacy is a rare non-progressive form of cone photoreceptor dysfunction characterised by reduced visual acuity, normal retinal appearance, absent or reduced cone responses on electroretinography but normal colour vision.	UMLS:C4302876|SCTID:722066001|Orphanet:75378|UMLS:CN205696	mondo.json	Oligocone syndrome	http://purl.obolibrary.org/obo/MONDO_0019151	UMLS:C4302876|http://identifiers.org/snomedct/722066001|UMLS:CN205696|Orphanet:75378	ordo_disease
MONDO:0020140	biolink:Disease	obsolete late-onset ataxia with dementia		Orphanet:98540	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020140	Orphanet:98540	disease_grouping|ordo_group_of_disorders
MONDO:0019150	biolink:Disease	familial isolated restrictive cardiomyopathy	Familial restrictive cardiomyopathy is a genetic form of heart disease, in which the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles.	OMIM:617047|Orphanet:75249|OMIM:615248|UMLS:CN205687	mondo.json	familial or idiopathic restrictive cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0019150	UMLS:CN205687|Orphanet:75249	ordo_disease
MONDO:0019153	biolink:Disease	brain malformation-congenital heart disease-postaxial polydactyly syndrome	Goossens-Devriendt syndrome is characterised by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay.	SCTID:717943008|UMLS:C4303545|Orphanet:75389	mondo.json	Goossens-Devriendt syndrome	http://purl.obolibrary.org/obo/MONDO_0019153	Orphanet:75389|http://identifiers.org/snomedct/717943008|UMLS:C4303545	ordo_malformation_syndrome
MONDO:0019152	biolink:Disease	Oguchi disease	Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon.	Orphanet:75382|GARD:0010118|MESH:C537743	mondo.json	stationary night blindness, Oguchi type|Oguchi disease|congenital stationary night blindness, Oguchi type|Oguchi syndrome	http://purl.obolibrary.org/obo/MONDO_0019152	Orphanet:75382|http://identifiers.org/mesh/C537743	gard_rare|ordo_malformation_syndrome
MONDO:0020148	biolink:Disease	syndromic aniridia	A aniridia that is part of a larger syndrome.	UMLS:CN227798|Orphanet:98557	mondo.json	syndromic aniridia|syndrome associated with aniridia	http://purl.obolibrary.org/obo/MONDO_0020148	UMLS:CN227798|Orphanet:98557	ordo_group_of_disorders|disease_grouping
MONDO:0020147	biolink:Disease	anophthalmia-microphthalmia syndrome		UMLS:CN120488|Orphanet:98555	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020147	Orphanet:98555|UMLS:CN120488	ordo_group_of_disorders|disease_grouping
MONDO:0007168	biolink:Disease	atelosteogenesis type III	A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.	SCTID:725142004|GARD:0010608|MESH:C579928|Orphanet:56305|OMIM:108721	mondo.json	AOIII|atelosteogenesis type 3|Aoiii|AO3|atelosteogenesis, type 3|atelosteogenesis, type III	http://purl.obolibrary.org/obo/MONDO_0007168	https://omim.org/entry/108721|Orphanet:56305|http://identifiers.org/snomedct/725142004|http://identifiers.org/mesh/C579928	ordo_malformation_syndrome
MONDO:0020146	biolink:Disease	major induction processes eye anomaly		Orphanet:98554	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020146	Orphanet:98554	ordo_group_of_disorders|disease_grouping
MONDO:0007169	biolink:Disease	atherosclerosis susceptibility		OMIM:108725	mondo.json	ATHS|atherosclerosis susceptibility|atherosclerosis, susceptibility to|Atherogenic lipoprotein phenotype	http://purl.obolibrary.org/obo/MONDO_0007169	https://omim.org/entry/108725	
MONDO:0020145	biolink:Disease	developmental defect of the eye		Orphanet:98553	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020145	Orphanet:98553	ordo_group_of_disorders|disease_grouping
MONDO:0020144	biolink:Disease	cerebrovascular dementia		Orphanet:98549	mondo.json	rare cerebrovascular dementia	http://purl.obolibrary.org/obo/MONDO_0020144	Orphanet:98549	disease_grouping|ordo_group_of_disorders
MONDO:0007166	biolink:Disease	ataxia with fasciculations		UMLS:C1862440|OMIM:108700|MESH:C566246	mondo.json	ataxia with fasciculations	http://purl.obolibrary.org/obo/MONDO_0007166	https://omim.org/entry/108700|UMLS:C1862440|http://identifiers.org/mesh/C566246	
MONDO:0007167	biolink:Disease	atelosteogenesis type I	Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.	OMIM:108720|MESH:C535396|GARD:0009287|SCTID:725141006|Orphanet:1190	mondo.json	atelosteogenesis type 1|spondylohumerofemoral hypoplasia|AOI|AO1|spondylo-humero-femoral dysplasia|atelosteogenesis, type I|atelosteogenesis, type 1|giant cell chondrodysplasia	http://purl.obolibrary.org/obo/MONDO_0007167	http://identifiers.org/mesh/C535396|https://omim.org/entry/108720|Orphanet:1190|http://identifiers.org/snomedct/725141006	ordo_malformation_syndrome
MONDO:0020143	biolink:Disease	cerebral lipidosis with dementia		SCTID:16517004|UMLS:C0007788|ICD9:330.1|Orphanet:98544|DOID:10742	mondo.json	cerebral lipidosis	http://purl.obolibrary.org/obo/MONDO_0020143	DOID:10742|Orphanet:98544|http://identifiers.org/snomedct/16517004|UMLS:C0007788	ordo_group_of_disorders|disease_grouping
MONDO:0007164	biolink:Disease	spastic ataxia 1	Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene.	DOID:0050772|UMLS:C1970107|Orphanet:251282|OMIM:108600|MESH:C566993|ICD10CM:G11.4	mondo.json	spastic ataxia type 1|autosomal dominant spastic ataxia caused by mutation in VAMP1|SPAX1|autosomal dominant spastic ataxia type 1|VAMP1 autosomal dominant spastic ataxia|spastic ataxia 1, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007164	Orphanet:251282|UMLS:C1970107|https://omim.org/entry/108600|http://identifiers.org/mesh/C566993|DOID:0050772	ordo_disease
MONDO:0020142	biolink:Disease	obsolete metabolic disease with dementia		Orphanet:98543|UMLS:CN207023	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020142	UMLS:CN207023|Orphanet:98543	ordo_group_of_disorders
MONDO:0007165	biolink:Disease	spastic ataxia 7	Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.	SCTID:763669001|Orphanet:1182|DOID:0050945|OMIM:108650|ICD10CM:G11.4|MESH:C566247|UMLS:C1862441	mondo.json	spastic ataxia type 7|spastic ataxia 7, autosomal dominant|autosomal dominant spastic ataxia type 7|spastic ataxia with congenital miosis|miosis, congenital, with spastic ataxia|SPAX7	http://purl.obolibrary.org/obo/MONDO_0007165	DOID:0050945|http://identifiers.org/snomedct/763669001|https://omim.org/entry/108650|UMLS:C1862441|Orphanet:1182|http://identifiers.org/mesh/C566247	ordo_disease
MONDO:0020141	biolink:Disease	obsolete infectious disease with dementia		Orphanet:98542|UMLS:CN207022	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020141	Orphanet:98542|UMLS:CN207022	ordo_group_of_disorders|disease_grouping
MONDO:0007162	biolink:Disease	asymmetric short stature syndrome		OMIM:108450|UMLS:C1862458|MESH:C566248	mondo.json	asymmetric short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0007162	https://omim.org/entry/108450|UMLS:C1862458|http://identifiers.org/mesh/C566248	
MONDO:0007163	biolink:Disease	episodic ataxia type 2	Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.	UMLS:C1720416|OMIM:108500|GARD:0009602|DOID:0050990|Orphanet:97|MESH:C535506|SCTID:420932006	mondo.json	EA2|CACNA1A hereditary episodic ataxia|ataxia, familial, paroxysmal|familial paroxysmal ataxia|cerebellar ataxia, paroxysmal, Acetazolamide-responsive|ataxia, familial paroxysmal|Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia|hereditary episodic ataxia caused by mutation in CACNA1A|ataxia, episodic, with Nystagmus|episodic ataxia, Nystagmus-associated|Acetazolamide-responsive episodic ataxia syndrome|CAPA|Nystagmus-associated episodic ataxia|APCA|Cerebellopathy, hereditary paroxysmal|Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia|episodic ataxia, type 2|episodic ataxia type 2|episodic ataxia with nystagmus	http://purl.obolibrary.org/obo/MONDO_0007163	UMLS:C1720416|Orphanet:97|https://omim.org/entry/108500|http://identifiers.org/snomedct/420932006|DOID:0050990|http://identifiers.org/mesh/C535506	ordo_disease
MONDO:0007160	biolink:Disease	Stickler syndrome type 1		MESH:C537492|Orphanet:90653|GARD:0005018|OMIM:108300	mondo.json	STL1|Stickler syndrome, type I|Stickler syndrome type 1|Stickler syndrome, membranous vitreous type|Stickler syndrome, type 1|Stickler syndrome, vitreous type 1|arthroophthalmopathy, hereditary progressive	http://purl.obolibrary.org/obo/MONDO_0007160	https://omim.org/entry/108300|http://identifiers.org/mesh/C537492|Orphanet:90653	ordo_clinical_subtype
MONDO:0007161	biolink:Disease	spermatogenic failure 2		OMIM:108420|DOID:0070164	mondo.json	Aspermiogenesis Factor|spermatogenic failure 2|SPGF2	http://purl.obolibrary.org/obo/MONDO_0007161	DOID:0070164|https://omim.org/entry/108420	
PATO:0000261	biolink:NamedThing	maturity	A quality of a single physical entity which is held by a bearer when the latter exhibits a state of growth, differentiation, or development.		mondo.json		http://purl.obolibrary.org/obo/PATO_0000261		
MONDO:0020139	biolink:Disease	obsolete early-onset ataxia with dementia		Orphanet:98539	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020139	Orphanet:98539	disease_grouping|ordo_group_of_disorders
MONDO:0020138	biolink:Disease	obsolete ataxia with dementia		Orphanet:98538	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020138	Orphanet:98538	ordo_group_of_disorders
MONDO:0019159	biolink:Disease	Loeffler endocarditis	Loeffler's endocarditis is a rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma.	Orphanet:75566|NCIT:C27044|DOID:396|MedDRA:10052841|SCTID:449829009	mondo.json	eosinophilic endocarditis|eosinophilic endomyocardial disease	http://purl.obolibrary.org/obo/MONDO_0019159	NCIT:C27044|http://identifiers.org/snomedct/449829009|Orphanet:75566|DOID:396	ordo_disease
MONDO:0019158	biolink:Disease	tropical endomyocardial fibrosis	Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition.	Orphanet:75565|SCTID:715626008|UMLS:C2882252|UMLS:CN205710	mondo.json	Davies disease|TEMF	http://purl.obolibrary.org/obo/MONDO_0019158	UMLS:C2882252|UMLS:CN205710|http://identifiers.org/snomedct/715626008|Orphanet:75565	ordo_disease
MONDO:0019155	biolink:Disease	Leydig cell hypoplasia	A condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.	GARD:0003244|MedDRA:10024406|MESH:C562567|Orphanet:755	mondo.json	46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency|LH resistance due to LH receptor deactivation|Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency|Male hypergonadotropic hypogonadism due to LHCGR defect|46,XY disorder of sex development due to LH defects|Leydig cell agenesis|46,XY DSD due to LH resistance or LHB deficiency|Male pseudohermaphroditism due to LH resistance or LHB deficiency|46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency|46,XY disorder of sex development due to LH resistance or LHB deficiency	http://purl.obolibrary.org/obo/MONDO_0019155	http://identifiers.org/mesh/C562567|Orphanet:755	ordo_disease|gard_rare
MONDO:0019154	biolink:Disease	androgen insensitivity syndrome	Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).	ICD9:259.8|OMIM:300068|SCTID:12313004|MedDRA:10056292|MESH:D013734|ICD9:259.51|NCIT:C27226|UMLS:C0039585|GARD:0005803|ICD9:259.5|DOID:4674|Orphanet:754	mondo.json	testicular feminization|AIS|androgen insensitivity, X-linked recessive|dihydrotestosterone receptor deficiency|Feminisation - testicular|Goldberg - Maxwell syndrome|androgen-insensitivity syndrome|testicular feminization syndrome (formerly)|Morris syndrome|androgen resistance syndrome|testicular feminization syndrome|androgen insensitivity syndrome|Goldberg-Maxwell syndrome|androgen receptor deficiency|AR deficiency|DHTR deficiency	http://purl.obolibrary.org/obo/MONDO_0019154	https://omim.org/entry/300068|NCIT:C27226|http://identifiers.org/snomedct/12313004|UMLS:C0039585|http://identifiers.org/mesh/D013734|Orphanet:754|DOID:4674	ordo_group_of_disorders|disease_grouping|gard_rare
MONDO:0019157	biolink:Disease	myelodysplastic syndrome with ring sideroblasts	Acquired idiopathic sideroblastic anaemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterised by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia. Acquired idiopathic sideroblastic anaemia is now more commonly referred to as refractory anaemia with ringed sideroblasts or the acronym RARS.	ICDO:9982/3|Orphanet:75564|NCIT:C4036|SCTID:109998009|EFO:0003812|ICD9:238.72	mondo.json	acquired idiopathic sideroblastic anemia|refractory anemia with ringed sideroblasts|myelodysplastic syndrome with Ring sideroblasts|refractory Anemia with ringed sideroblasts|refractory Anemia with Ring sideroblasts|MDS-RS|primary acquired sideroblastic anemia|MDS with ring sideroblasts|RARS|AISA|Pure sideroblastic Anemia	http://purl.obolibrary.org/obo/MONDO_0019157	NCIT:C4036|Orphanet:75564|http://identifiers.org/snomedct/109998009	ordo_disease
MONDO:0019156	biolink:Disease	angioosteohypotrophic syndrome	Angioosteohypotrophic syndrome is a rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported.	UMLS:CN205707|Orphanet:75508|SCTID:765750001	mondo.json	Phlebectatic osteohypoplastic angiodysplasia|Servelle-Martorell syndrome	http://purl.obolibrary.org/obo/MONDO_0019156	UMLS:CN205707|Orphanet:75508|http://identifiers.org/snomedct/765750001	ordo_malformation_syndrome
MONDO:0019140	biolink:Disease	acute ackee fruit intoxication	Acute ackee fruit intoxication (also referred to as Jamaican vomiting syndrome or sickness) is caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils.	ICD9:988.2|MESH:C537562|SCTID:49434001|GARD:0009299|Orphanet:73423	mondo.json	Jamaican vomiting syndrome|ackee poisoning|acute intoxication by Blighia sapida|Jamaican vomiting sickness	http://purl.obolibrary.org/obo/MONDO_0019140	http://identifiers.org/snomedct/49434001|http://identifiers.org/mesh/C537562|Orphanet:73423	ordo_disease
MONDO:0022792	biolink:Disease	coccygodynia	Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more commoncausesare direct falls and injury.	GARD:0005168	mondo.json	coccydynia	http://purl.obolibrary.org/obo/MONDO_0022792		gard_rare
MONDO:0019142	biolink:Disease	inherited porphyria	Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.	MESH:D011164|DOID:13268|SCTID:371628009|MedDRA:10061356|MedDRA:10036181|SCTID:418470004|Orphanet:738|UMLS:C0032708|ICD9:277.1|NCIT:C97096|GARD:0010353	mondo.json	Porphyrinopathy|disorder of porphyrin and hem metabolism|porphyria|hereditary porphyria|disorder of porphyrin and heme metabolism|disorder of porphyrin metabolism|Hematoporphyria	http://purl.obolibrary.org/obo/MONDO_0019142	http://identifiers.org/snomedct/371628009|NCIT:C97096|UMLS:C0032708|http://identifiers.org/mesh/D011164|Orphanet:738|DOID:13268	disease_grouping|gard_rare|ordo_group_of_disorders
MONDO:0022794	biolink:Disease	obsolete chromosome 8 deletion	OBSOLETE. A structural cytogenetic abnormality characterized by partial or complete loss of chromosome 8.	GARD:0012070|MESH:C537823|UMLS:C0265418|NCIT:C36535	mondo.json	Deletions of chromosome 8|del(8)|loss of chromosome 8|Anomaly of chromosome pair 8	http://purl.obolibrary.org/obo/MONDO_0022794		obsoletion_candidate
MONDO:0019141	biolink:Disease	porokeratosis of Mibelli	Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border.	ICD9:757.39|UMLS:C0949506|SCTID:80432009|GARD:0004438|Orphanet:735	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019141	http://identifiers.org/snomedct/80432009|UMLS:C0949506|Orphanet:735	ordo_disease
MONDO:0022795	biolink:Disease	deficiency of coenzyme q cytochrome c reductase		GARD:0001419	mondo.json	coenzyme Q cytochrome c reductase deficiency of	http://purl.obolibrary.org/obo/MONDO_0022795		gard_rare
MONDO:0022798	biolink:Disease	Cohen lockood wyborney syndrome		GARD:0001423	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022798		gard_rare
MONDO:0022799	biolink:Disease	cold urticaria	Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications.	GARD:0006131|SCTID:74774004|EFO:1001881|UMLS:C0221207	mondo.json	primary idiopathic cold urticaria|cold contact urticaria|urticaria idiopathic cold	http://purl.obolibrary.org/obo/MONDO_0022799	http://identifiers.org/snomedct/74774004|UMLS:C0221207	gard_rare
MONDO:0020137	biolink:Disease	obsolete frontotemporal degeneration with dementia		Orphanet:98535	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020137	Orphanet:98535	ordo_group_of_disorders
MONDO:0020136	biolink:Disease	obsolete neurodegenerative disease with dementia		UMLS:CN207020|Orphanet:98534	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020136	Orphanet:98534|UMLS:CN207020	ordo_group_of_disorders|disease_grouping
MONDO:0020135	biolink:Disease	pontocerebellar hypoplasia	Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern.	SCTID:45163000|Orphanet:98523|GARD:0010977|OMIMPS:607596|MESH:C580383|UMLS:CN924922|DOID:0060264	mondo.json	nonsyndromic pontocerebellar hypoplasia|pontoneocerebellar atrophy|pontoneocerebllar hypoplasia|pontocerebellar hypoplasia|isolated pontocerebellar hypoplasia|PCH	http://purl.obolibrary.org/obo/MONDO_0020135	https://omim.org/phenotypicSeries/PS607596|UMLS:CN924922|Orphanet:98523|http://identifiers.org/mesh/C580383|DOID:0060264|http://identifiers.org/snomedct/45163000	gard_rare|ordo_group_of_disorders|disease_grouping
MONDO:0007179	biolink:Disease	autoimmune disease	A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis).	UMLS:C0004364|SCTID:85828009|MESH:D001327|EFO:0005140|NCIT:C2889|ICD9:720|ICD9:279.4|OBI:1110054|DOID:417|ICD9:279.49|OMIM:109100	mondo.json	autoimmune disease|autoimmune disease or disorder|disease, autoimmune|autoimmune hypersensitivity disease|autoimmune disorder|hypersensitivity reaction type II disease	http://purl.obolibrary.org/obo/MONDO_0007179	http://identifiers.org/snomedct/85828009|https://omim.org/entry/109100|UMLS:C0004364|http://identifiers.org/mesh/D001327|NCIT:C2889|DOID:417	
MONDO:0020134	biolink:Disease	cystic malformation of the posterior fossa		SCTID:35111000119109|ICD9:742.4|Orphanet:98520	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020134	http://identifiers.org/snomedct/35111000119109|Orphanet:98520	ordo_group_of_disorders|disease_grouping
MONDO:0007177	biolink:Disease	auriculoosteodysplasia	Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature.	OMIM:109000|GARD:0008663|UMLS:C1862381|MESH:C538271|Orphanet:114	mondo.json	auriculo-osteodysplasia|multiple osseous dysplasia, characteristic ear shape, and short stature|auriculoosteodysplasia	http://purl.obolibrary.org/obo/MONDO_0007177	https://omim.org/entry/109000|UMLS:C1862381|http://identifiers.org/mesh/C538271|Orphanet:114	gard_rare|ordo_malformation_syndrome
MONDO:0020133	biolink:Disease	posterior fossa malformation		Orphanet:98519	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020133	Orphanet:98519	disease_grouping|ordo_group_of_disorders
MONDO:0007178	biolink:Disease	aurocephalosyndactyly		GARD:0009218|Orphanet:1219|OMIM:109050|MESH:C566235|UMLS:C1862380	mondo.json	Auralcephalosyndactyly|Kurczynski-Casperson syndrome|aurocephalosyndactyly|aural cephalosyndactyly	http://purl.obolibrary.org/obo/MONDO_0007178	https://omim.org/entry/109050|UMLS:C1862380|Orphanet:1219|http://identifiers.org/mesh/C566235	
MONDO:0020132	biolink:Disease	cranial nerve and nuclear aplasia		Orphanet:98518	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020132	Orphanet:98518	disease_grouping|ordo_group_of_disorders
MONDO:0022790	biolink:Disease	cleft tongue		GARD:0001395	mondo.json	cleft tongue syndrome|bifid tongue	http://purl.obolibrary.org/obo/MONDO_0022790		gard_rare
MONDO:0007175	biolink:Disease	PR interval, variation 1N		OMIM:108980|UMLS:C3152251	mondo.json	PR interval, variation type 1N|PR interval, variation IN|Atrioventricular conduction time, variation 1N	http://purl.obolibrary.org/obo/MONDO_0007175	https://omim.org/entry/108980|UMLS:C3152251	
MONDO:0020131	biolink:Disease	malformation of the cerebellar hemispheres		Orphanet:98516	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020131	Orphanet:98516	disease_grouping|ordo_group_of_disorders
MONDO:0007176	biolink:Disease	helicoid peripapillary chorioretinal degeneration	Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.	UMLS:C1862382|SCTID:724384008|OMIM:108985|MESH:C566236|Orphanet:86813|DOID:0111228	mondo.json	peripapillary chorioretinal Degeneration, Icelandic type|Sveinsson chorioretinal atrophy|SCRA|atrophia areata|helicoidal peripapillary chorioretinal Degeneration|SVEINSSON chorioretinal atrophy	http://purl.obolibrary.org/obo/MONDO_0007176	http://identifiers.org/snomedct/724384008|UMLS:C1862382|https://omim.org/entry/108985|http://identifiers.org/mesh/C566236|Orphanet:86813|DOID:0111228	ordo_disease
MONDO:0022791	biolink:Disease	coarse face hypotonia constipation		GARD:0001412	mondo.json	Sondheimer syndrome	http://purl.obolibrary.org/obo/MONDO_0022791		gard_rare
MONDO:0020130	biolink:Disease	malformation of the cerebellar vermis		Orphanet:98514	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020130	Orphanet:98514	disease_grouping|ordo_group_of_disorders
MONDO:0007173	biolink:Disease	atrial septal defect 7	Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.	DOID:0110112|UMLS:C3502353|Orphanet:1479|OMIM:108900	mondo.json	atrial septal defect 7, with or without AV conduction defects|NKX2-5 atrial heart septal defect|atrial heart septal defect type 7|ASD with or without atrioventricular conduction defects|atrial septal defect-atrioventricular conduction defects syndrome|ASD7|atrial heart septal defect caused by mutation in NKX2-5|atrial septal defect 7 with or without atrioventricular conduction defects	http://purl.obolibrary.org/obo/MONDO_0007173	https://omim.org/entry/108900|UMLS:C3502353|Orphanet:1479|DOID:0110112	ordo_malformation_syndrome
MONDO:0007174	biolink:Disease	Lown-Ganong-Levine syndrome	Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia).	ICD9:426.81|Orphanet:844|UMLS:C0024054|SCTID:55475008|DOID:13087|MedDRA:10024984|MESH:D008151|OMIM:108950|UMLS:C1862387	mondo.json	atrial tachyarrhythmia with short PR interval|syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias|Lown-Ganong-Levine syndrome|LGL syndrome	http://purl.obolibrary.org/obo/MONDO_0007174	UMLS:C1862387|http://identifiers.org/snomedct/55475008|https://omim.org/entry/108950|http://identifiers.org/mesh/D008151|DOID:13087|UMLS:C0024054|Orphanet:844	ordo_disease
MONDO:0007171	biolink:Disease	atrial standstill 1	Any atrial standstill in which the cause of the disease is a mutation in the GJA5 gene.	OMIM:108770	mondo.json	atrial cardiomyopathy with heart block|atrial standstill type 1|atrial standstill caused by mutation in GJA5|atrial standstill, digenic (GJA5/SCN5A)|ATRST1|GJA5 atrial standstill|cardiomyopathy, familial, with conduction disturbance|atrial standstill 1	http://purl.obolibrary.org/obo/MONDO_0007171	https://omim.org/entry/108770	
MONDO:0007172	biolink:Disease	atrial septal defect 1	An atrial heart septal defect type 1 associated with variation in the region 5p.	UMLS:C1862389|OMIM:108800|DOID:0110106	mondo.json	ASD 2|ASD 1|atrial septal defect, primum type|ASD1|atrial septal defect 1|atrial septal defect, secundum type|atrial heart septal defect type 1	http://purl.obolibrary.org/obo/MONDO_0007172	https://omim.org/entry/108800|UMLS:C1862389|DOID:0110106	
MONDO:0020129	biolink:Disease	acquired motor neuron disease	An instance of motor neuron disease that is acquired during the lifetime of the individual.	Orphanet:98506|UMLS:CN207019	mondo.json	acquired motor neuron disease|acquired anterior horn cell disease	http://purl.obolibrary.org/obo/MONDO_0020129	UMLS:CN207019|Orphanet:98506	ordo_group_of_disorders|disease_grouping
MONDO:0007170	biolink:Disease	atresia of external auditory canal and conductive deafness		UMLS:C3276095|OMIM:108760	mondo.json	atresia of external auditory canal and conductive deafness	http://purl.obolibrary.org/obo/MONDO_0007170	https://omim.org/entry/108760|UMLS:C3276095	
MONDO:0020128	biolink:Disease	motor neuron disorder	A disease involving the motor neuron.	EFO:0003782|MedDRA:10028003|ICD9:335.8|ICD9:335.2|ICD10CM:G12.2|ICD9:335.9|DOID:231|SCTID:37340000|MESH:D016472|Orphanet:98503	mondo.json	motor neuron disease|motor neuron disease or disorder|disorder of motor neuron|disease of motor neuron|disease or disorder of motor neuron|anterior horn cell disease	http://purl.obolibrary.org/obo/MONDO_0020128	http://purl.bioontology.org/ontology/ICD10CM/G12.2|http://identifiers.org/mesh/D016472|http://identifiers.org/snomedct/37340000|DOID:231|Orphanet:98503	disease_grouping|ordo_group_of_disorders
MONDO:0020127	biolink:Disease	genetic peripheral neuropathy	Genetic peripheral neuropathy.	Orphanet:98497	mondo.json	genetic peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0020127	Orphanet:98497	ordo_group_of_disorders|obsoletion_candidate|clingen|disease_grouping
MONDO:0019148	biolink:Disease	Wolman disease	Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues.	GARD:0007899|NCIT:C61271|UMLS:C0043208|Orphanet:75233|MESH:D015223|SCTID:82500001|DOID:14497|MedDRA:10053687|UMLS:CN438428	mondo.json	primary familial xanthomatosis|familial visceral xanthomatosis|acid esterase deficiency|acid lipase deficiency|Wolman's or triglyceride storage type III disease|primary familial xanthomatosis with adrenal calcification|deficiency of cholesterol esterase and triacylglycerol lipase|Wolman xanthomatosis|Wolman's disease|liposomal acid lipase deficiency, Wolman type|Wolman disease|lysosomal acid lipase deficiency|xanthomatosis, familial|familial xanthomatosis	http://purl.obolibrary.org/obo/MONDO_0019148	DOID:14497|NCIT:C61271|http://identifiers.org/snomedct/82500001|http://identifiers.org/mesh/D015223|Orphanet:75233|UMLS:CN438428|UMLS:C0043208	ordo_clinical_subtype
MONDO:0019147	biolink:Disease	myiasis	The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes.	DOID:11080|ICD9:134.0|EFO:0007389|MedDRA:10028586|Orphanet:75110|MESH:D009198|UMLS:C0027030|SCTID:60412004|NCIT:C128400	mondo.json	infestation by maggots|myiasis, unspecified|maggot infestation|infestation by fly larvae	http://purl.obolibrary.org/obo/MONDO_0019147	NCIT:C128400|http://identifiers.org/snomedct/60412004|DOID:11080|Orphanet:75110|UMLS:C0027030|http://identifiers.org/mesh/D009198	ordo_group_of_disorders|disease_grouping
MONDO:0019149	biolink:Disease	cholesteryl ester storage disease	Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption.	SCTID:57218003|UMLS:C0008384|Orphanet:75234|GARD:0012099|DOID:14502	mondo.json	cholesterol ester storage disease|CESD	http://purl.obolibrary.org/obo/MONDO_0019149	UMLS:C0008384|http://identifiers.org/snomedct/57218003|DOID:14502|Orphanet:75234	ordo_clinical_subtype
MONDO:0019144	biolink:Disease	hereditary thrombophilia due to congenital protein S deficiency	Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.	Orphanet:743	mondo.json	autosomal recessive thrombophilia due to congenital protein S deficiency|hereditary thrombophilia due to congenital protein S deficiency|severe hereditary thrombophilia due to congenital protein S deficiency	http://purl.obolibrary.org/obo/MONDO_0019144	Orphanet:743	ordo_disease
MONDO:0019143	biolink:Disease	angiostrongyliasis	A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur.	SCTID:61750000|DOID:0050256|GARD:0000683|ICD9:128.8|Orphanet:74|NCIT:C128394|MedDRA:10069517|UMLS:C0392662|MESH:C536369	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019143	Orphanet:74|UMLS:C0392662|http://identifiers.org/snomedct/61750000|DOID:0050256|NCIT:C128394|http://identifiers.org/mesh/C536369	ordo_disease|gard_rare
MONDO:0019146	biolink:Disease	inherited susceptibility to mycobacterial diseases	Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized.	UMLS:CN181681|GARD:0012977|Orphanet:748|UMLS:C3266863	mondo.json	MSMD|Mendelian susceptibility to mycobacterial infections|Mendelian susceptibility to atypical mycobacteria|Mycobacterium genetic susceptibility to infections due to particular pathogens|idiopathic infection caused by BCG or atypical mycobacteria|Mycobacterium caused genetic susceptibility to infections due to particular pathogens	http://purl.obolibrary.org/obo/MONDO_0019146	Orphanet:748|UMLS:C3266863|UMLS:CN181681	ordo_group_of_disorders|disease_grouping|predisposition
MONDO:0019145	biolink:Disease	hereditary thrombophilia due to congenital protein C deficiency	Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.	NCIT:C99025|SCTID:76407009|MESH:D020151|DOID:3756|MESH:C535424|Orphanet:745	mondo.json	autosomal recessive thrombophilia due to PC deficiency|severe hereditary thrombophilia due to congenital protein C deficiency|Protein C deficiency|Protein C deficiency disease|autosomal recessive thrombophilia due to congenital protein C deficiency|hereditary thrombophilia due to PC deficiency|hereditary thrombophilia due to congenital protein C deficiency|protein C deficiency	http://purl.obolibrary.org/obo/MONDO_0019145	Orphanet:745|http://identifiers.org/snomedct/76407009|NCIT:C99025|http://identifiers.org/mesh/C535424|DOID:3756|http://identifiers.org/mesh/D020151	ordo_disease
RO:0002490	biolink:NamedThing	existence overlaps	x existence overlaps y if and only if either (a) the start of x is part of y or (b) the end of x is part of y. Formally: x existence starts and ends during y iff (α(x) >= α(y) & α(x) <= ω(y)) OR (ω(x) <= ω(y) & ω(x) >= α(y))		mondo.json		http://purl.obolibrary.org/obo/RO_0002490		
GO:0005499	biolink:NamedThing	vitamin D binding	Binding to vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3).		mondo.json	ergocalciferol binding|cholecalciferol binding|calciferol binding	http://purl.obolibrary.org/obo/GO_0005499		
RO:0002495	biolink:NamedThing	immediate transformation of	x immediate transformation of y iff x immediately succeeds y temporally at a time boundary t, and all of the matter present in x at t is present in y at t, and all the matter in y at t is present in x at t		mondo.json		http://purl.obolibrary.org/obo/RO_0002495		
GO:0005497	biolink:NamedThing	androgen binding	Binding to an androgen, a male sex hormone.		mondo.json		http://purl.obolibrary.org/obo/GO_0005497		
RO:0002496	biolink:NamedThing	existence starts during or after	x existence starts during or after y if and only if the time point at which x starts is after or equivalent to the time point at which y starts. Formally: x existence starts during or after y iff α (x) >= α (y).		mondo.json		http://purl.obolibrary.org/obo/RO_0002496		
RO:0002497	biolink:NamedThing	existence ends during or before	x existence ends during or before y if and only if the time point at which x ends is before or equivalent to the time point at which y ends.		mondo.json		http://purl.obolibrary.org/obo/RO_0002497		
GO:0005496	biolink:NamedThing	steroid binding	Binding to a steroid, any of a large group of substances that have in common a ring system based on 1,2-cyclopentanoperhydrophenanthrene.		mondo.json		http://purl.obolibrary.org/obo/GO_0005496		
RO:0002491	biolink:NamedThing	existence starts and ends during	x exists during y if and only if: 1) the time point at which x begins to exist is after or equal to the time point at which y begins and 2) the time point at which x ceases to exist is before or equal to the point at which y ends. Formally: x existence starts and ends during y iff α(x) >= α(y) & α(x) <= ω(y) & ω(x) <= ω(y) & ω(x) >= α(y)		mondo.json	exists during	http://purl.obolibrary.org/obo/RO_0002491		
RO:0002492	biolink:NamedThing	existence ends during	x existence ends during y if and only if the time point at which x ends is before or equivalent to the time point at which y ends and after or equivalent to the point at which y starts. Formally: x existence ends during y iff ω(x) <= ω(y) and ω(x) >= α(y).		mondo.json		http://purl.obolibrary.org/obo/RO_0002492		
RO:0002493	biolink:NamedThing	existence ends with	x existence ends with y if and only if the time point at which x ends is equivalent to the time point at which y ends. Formally: x existence ends with y iff ω(x) = ω(y).		mondo.json		http://purl.obolibrary.org/obo/RO_0002493		
RO:0002494	biolink:NamedThing	transformation of	x transformation of y if x is the immediate transformation of y, or is linked to y through a chain of transformation relationships		mondo.json		http://purl.obolibrary.org/obo/RO_0002494		
HGNC:29284	biolink:NamedThing	DIP2B			mondo.json		http://identifiers.org/hgnc/29284		
RO:0002488	biolink:NamedThing	existence starts during	x existence starts during y if and only if the time point at which x starts is after or equivalent to the time point at which y starts and before or equivalent to the time point at which y ends. Formally: x existence starts during y iff α(x) >= α(y) & α(x) <= ω(y).		mondo.json		http://purl.obolibrary.org/obo/RO_0002488		
RO:0002489	biolink:NamedThing	existence starts with	x starts ends with y if and only if the time point at which x starts is equivalent to the time point at which y starts. Formally: x existence starts with y iff α(x) = α(y).		mondo.json		http://purl.obolibrary.org/obo/RO_0002489		
MONDO:0020195	biolink:Disease	excretory apparatus of the lacrimal system anomaly		Orphanet:98605	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020195	Orphanet:98605	ordo_group_of_disorders|disease_grouping
MONDO:0020194	biolink:Disease	congenital alacrima		Orphanet:98604	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020194	Orphanet:98604	disease_grouping|ordo_group_of_disorders
MONDO:0020193	biolink:Disease	secretory apparatus of the lacrimal system anomaly		Orphanet:98603	mondo.json	disease of lacrimal gland|lacrimal gland disease|disorder of lacrimal gland	http://purl.obolibrary.org/obo/MONDO_0020193	Orphanet:98603	disease_grouping|ordo_group_of_disorders
MONDO:0020192	biolink:Disease	obsolete rare lacrimal system disease	OBSOLETE. Any of the forms of lacrimal apparatus disease that have a rare incidence.	Orphanet:98602	mondo.json	rare lacrimal apparatus disease	http://purl.obolibrary.org/obo/MONDO_0020192	Orphanet:98602	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
GO:0030449	biolink:NamedThing	regulation of complement activation	Any process that modulates the frequency, rate or extent of complement activation.		mondo.json	regulation of complement cascade	http://purl.obolibrary.org/obo/GO_0030449		
MONDO:0020191	biolink:Disease	obsolete eyebrow/eyelashes pigmentation anomaly		Orphanet:98601	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020191	Orphanet:98601	disease_grouping|ordo_group_of_disorders
MONDO:0020190	biolink:Disease	obsolete eyebrow/eyelashes distichiasis		Orphanet:98600	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020190	Orphanet:98600	ordo_group_of_disorders|disease_grouping
RO:0002485	biolink:NamedThing	receives input from			mondo.json		http://purl.obolibrary.org/obo/RO_0002485		
RO:0002486	biolink:NamedThing	sends output to			mondo.json		http://purl.obolibrary.org/obo/RO_0002486		
RO:0002487	biolink:NamedThing	relation between physical entity and a process or stage			mondo.json		http://purl.obolibrary.org/obo/RO_0002487		
MONDO:0020199	biolink:Disease	obsolete conjunctival vascular anomaly		Orphanet:98611	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020199	Orphanet:98611	
HGNC:29298	biolink:NamedThing	CEP152			mondo.json		http://identifiers.org/hgnc/29298		
MONDO:0020198	biolink:Disease	obsolete rare conjunctival disease	OBSOLETE. Rare conjunctival disease.	Orphanet:98610	mondo.json	rare conjunctival disease	http://purl.obolibrary.org/obo/MONDO_0020198	Orphanet:98610	
RO:0002481	biolink:NamedThing	is kinase activity			mondo.json		http://purl.obolibrary.org/obo/RO_0002481		
MONDO:0020197	biolink:Disease	EEC syndrome and related syndrome		UMLS:CN207046|Orphanet:98609	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020197	UMLS:CN207046|Orphanet:98609	ordo_group_of_disorders|disease_grouping
MONDO:0044101	biolink:Disease	pregnancy, cornual	An abnormal pregnancy in which the conception is implanted and develops in the cornu of uterus.	MESH:D065173|SCTID:87605005|NCIT:C92761	mondo.json	cornual pregnancy|ectopic pregnancy of uterine horn|Pregnancies, cornual|uterine horn ectopic pregnancy|cornual Pregnancies|rudimentary horn pregnancy	http://purl.obolibrary.org/obo/MONDO_0044101	http://identifiers.org/snomedct/87605005|NCIT:C92761|http://identifiers.org/mesh/D065173	
MONDO:0020196	biolink:Disease	anomaly of the secretory and excretory apparatus of the lacrimal system		Orphanet:98608	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020196	Orphanet:98608	ordo_group_of_disorders|disease_grouping
RO:0002479	biolink:NamedThing	has part that occurs in	p has part that occurs in c if and only if there exists some p1, such that p has_part p1, and p1 occurs in c.		mondo.json		http://purl.obolibrary.org/obo/RO_0002479		
MONDO:0019195	biolink:Disease	hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome	Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive.	Orphanet:79091|GARD:0009494|UMLS:CN205775|SCTID:724349009	mondo.json	Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles|Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia|inclusion body myopathy type 3|IBM3|Hereditary inclusion body myopathy type 3|Inclusion body myopathy autosomal dominant|HIBM3|hereditary inclusion body myopathy type 3	http://purl.obolibrary.org/obo/MONDO_0019195	http://identifiers.org/snomedct/724349009|Orphanet:79091|UMLS:CN205775	ordo_disease
MONDO:0020184	biolink:Disease	obsolete rare eyebrow/eyelashes anomaly		UMLS:CN227808|Orphanet:98594	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020184	UMLS:CN227808|Orphanet:98594	ordo_group_of_disorders|disease_grouping
MONDO:0019194	biolink:Disease	localized lipodystrophy	Localised lipodystrophies are characterised by loss of subcutaneous tissue from small regions of the body.	GARD:0005867|NCIT:C131814|UMLS:CN227583|UMLS:C4329999|Orphanet:79088	mondo.json	centrifugal lipodystrophy (subtype)|focal lipodystrophy|pressure-induced localized lipoatrophy (subtype)|idiopathic localized lipodystrophy (subtype)|drug-induced localized lipodystrophy (subtype)|panniculitis and localized lipodystrophy (subtype)	http://purl.obolibrary.org/obo/MONDO_0019194	UMLS:CN227583|UMLS:C4329999|Orphanet:79088|NCIT:C131814	disease_grouping|gard_rare|ordo_group_of_disorders
MONDO:0020183	biolink:Disease	neurogenic palpebral tumor		Orphanet:98593|UMLS:CN207043	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020183	UMLS:CN207043|Orphanet:98593	ordo_disease
HGNC:17282	biolink:NamedThing	RIMS1			mondo.json		http://identifiers.org/hgnc/17282		
MONDO:0019197	biolink:Disease	folinic acid-responsive seizures	Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.	Orphanet:79097|SCTID:717276003|UMLS:CN205780	mondo.json	Folinic acid responsive seizures	http://purl.obolibrary.org/obo/MONDO_0019197	http://identifiers.org/snomedct/717276003|Orphanet:79097|UMLS:CN205780	ordo_disease
MONDO:0020182	biolink:Disease	obsolete palpebral tumor with a vascular malformation		Orphanet:98592|UMLS:CN207042	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020182	Orphanet:98592|UMLS:CN207042	ordo_group_of_disorders
MONDO:0019196	biolink:Disease	Foix-Alajouanine syndrome	Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterised by progressive ascending deficit over a period of several months or years.	SCTID:230379007|UMLS:CN205776|Orphanet:79093|ICD9:323.9	mondo.json	angiodysgenetic necrotizing myelopathy|Subacute ascending necrotizing myelitis|familial osteosclerosis with abnormalities of the nervous system and meninges|Subacute necrotizing myelitis|Subacute angiohypertrophic myelomalacia	http://purl.obolibrary.org/obo/MONDO_0019196	http://identifiers.org/snomedct/230379007|Orphanet:79093|UMLS:CN205776	ordo_malformation_syndrome
MONDO:0020181	biolink:Disease	mesenchymatous palpebral tumor		Orphanet:98591|UMLS:CN207041	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020181	UMLS:CN207041|Orphanet:98591	ordo_group_of_disorders|disease_grouping
HGNC:17284	biolink:NamedThing	POT1			mondo.json		http://identifiers.org/hgnc/17284		
MONDO:0019191	biolink:Disease	IgG4-related dacryoadenitis and sialadenitis	IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis.	SCTID:7826003|DOID:12900|MESH:D008882|NCIT:C34819|MedDRA:10052317|UMLS:C0026103|MedDRA:10051457|Orphanet:79078|GARD:0007043	mondo.json	Mikulicz's disease (former)|Mikulicz's disease|Mikulicz disease (former)|Mikulicz syndrome (former)|Mikulicz disease|chronic dacryoadenitis and sialadenitis	http://purl.obolibrary.org/obo/MONDO_0019191	UMLS:C0026103|NCIT:C34819|Orphanet:79078|http://identifiers.org/mesh/D008882|DOID:12900|http://identifiers.org/snomedct/7826003	ordo_disease|gard_rare
MONDO:0020180	biolink:Disease	palpebral piliary tumor		Orphanet:98590|UMLS:CN207040	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020180	Orphanet:98590|UMLS:CN207040	ordo_group_of_disorders|disease_grouping
MONDO:0019190	biolink:Disease	juvenile polyposis of infancy	Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life.	UMLS:CN205768|OMIM:612242|Orphanet:79076	mondo.json	infantile onset juvenile polyposis syndrome|juvenile polyposis syndrome of infancy|infantile juvenile polyposis syndrome	http://purl.obolibrary.org/obo/MONDO_0019190	Orphanet:79076|UMLS:CN205768	ordo_clinical_subtype
MONDO:0019193	biolink:Disease	acquired generalized lipodystrophy	Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles).	GARD:0012603|Orphanet:79086|DOID:0080300|SCTID:86907008|UMLS:C0271693|NCIT:C131089	mondo.json	acquired generalized lipodystrophy|Lawrence syndrome|Lawrence-Seip syndrome|acquired lipoatrophic diabetes	http://purl.obolibrary.org/obo/MONDO_0019193	UMLS:C0271693|DOID:0080300|NCIT:C131089|Orphanet:79086|http://identifiers.org/snomedct/86907008	ordo_disease|gard_rare
CHR:9606-chr11p1	biolink:NamedThing	11p1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr11p1		
MONDO:0019192	biolink:Disease	AKT2-related familial partial lipodystrophy		Orphanet:79085|GARD:0012599|UMLS:CN536246|UMLS:CN205772	mondo.json	AKT2-related FPLD|familial partial lipodystrophy due to AKT2 mutations	http://purl.obolibrary.org/obo/MONDO_0019192	Orphanet:79085|UMLS:CN536246|UMLS:CN205772	ordo_disease
RO:0002473	biolink:NamedThing	composed primarily of	x composed_primarily_of y if and only if more than half of the mass of x is made from y or units of the same type as y.		mondo.json		http://purl.obolibrary.org/obo/RO_0002473		
MONDO:0020189	biolink:Disease	obsolete eyebrow/eyelashes structural anomaly		Orphanet:98599	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020189	Orphanet:98599	disease_grouping|ordo_group_of_disorders
MONDO:0020188	biolink:Disease	obsolete congenital absence of the eyebrow/eyelashes		Orphanet:98598	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020188	Orphanet:98598	ordo_group_of_disorders|disease_grouping
MONDO:0020187	biolink:Disease	obsolete eyelashes hypertrophy		Orphanet:98597	mondo.json	eyelashes trichomegalia|eyelashes polytrichia	http://purl.obolibrary.org/obo/MONDO_0020187	Orphanet:98597	ordo_group_of_disorders|disease_grouping
MONDO:0020186	biolink:Disease	obsolete eyebrow hypertrophy		Orphanet:98596	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020186	Orphanet:98596	ordo_group_of_disorders|disease_grouping
MONDO:0044113	biolink:Disease	bullous systemic lupus erythematosus	A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption.	UMLS:C0409977|EFO:0008619|SCTID:239889005|NCIT:C117104|Orphanet:46489	mondo.json	bullous systemic lupus erythematosus|BSLE	http://purl.obolibrary.org/obo/MONDO_0044113	UMLS:C0409977|http://identifiers.org/snomedct/239889005|NCIT:C117104	
MONDO:0020185	biolink:Disease	obsolete eyebrow/eyelashes hypertrichosis		Orphanet:98595	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020185	Orphanet:98595	ordo_group_of_disorders|disease_grouping
HGNC:30262	biolink:NamedThing	PYCR2			mondo.json		http://identifiers.org/hgnc/30262		
HGNC:29262	biolink:NamedThing	IFT80			mondo.json		http://identifiers.org/hgnc/29262		
HGNC:30260	biolink:NamedThing	PNPO			mondo.json		http://identifiers.org/hgnc/30260		
GO:0030431	biolink:NamedThing	sleep	Any process in which an organism enters and maintains a periodic, readily reversible state of reduced awareness and metabolic activity. Usually accompanied by physical relaxation, the onset of sleep in humans and other mammals is marked by a change in the electrical activity of the brain.		mondo.json	diapause|dormancy|lethargus	http://purl.obolibrary.org/obo/GO_0030431		
GO:0030432	biolink:NamedThing	peristalsis	A wavelike sequence of involuntary muscular contraction and relaxation that passes along a tubelike structure, such as the intestine, impelling the contents onwards.		mondo.json		http://purl.obolibrary.org/obo/GO_0030432		
MONDO:0019199	biolink:Disease	interstitial granulomatous dermatitis with arthritis	Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes.	Orphanet:79099|UMLS:CN205782	mondo.json	IGDA|Ackerman dermatitis syndrome	http://purl.obolibrary.org/obo/MONDO_0019199	Orphanet:79099|UMLS:CN205782	ordo_disease
MONDO:0019198	biolink:Disease	sympathetic ophthalmia	Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye.	DOID:12029|EFO:1001205|Orphanet:79098|ICD9:360.11|MedDRA:10042742|MESH:D009879|SCTID:75315001|UMLS:C0029077	mondo.json	sympathetic ophthalmia|sympathetic uveitis	http://purl.obolibrary.org/obo/MONDO_0019198	http://identifiers.org/mesh/D009879|Orphanet:79098|DOID:12029|http://identifiers.org/snomedct/75315001|UMLS:C0029077	ordo_disease
HGNC:17288	biolink:NamedThing	APOA5			mondo.json		http://identifiers.org/hgnc/17288		
MONDO:0020173	biolink:Disease	benign tumor of palpebral epidermis	A benign neoplasm that involves the skin of eyelid.	UMLS:CN207034|Orphanet:98582	mondo.json	skin of eyelid benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0020173	UMLS:CN207034|Orphanet:98582	ordo_group_of_disorders|disease_grouping
MONDO:0019184	biolink:Disease	obsolete ankylostomiasis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019184		
MONDO:0020172	biolink:Disease	palpebral epidermal tumor	A neoplasm (disease) that involves the skin of eyelid.	UMLS:CN207033|Orphanet:98581|SCTID:126499002	mondo.json	neoplasm of skin of eyelid|skin of eyelid tumor|skin of eyelid neoplasm|tumor of skin of eyelid|skin of eyelid neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0020172	Orphanet:98581|UMLS:CN207033|http://identifiers.org/snomedct/126499002	ordo_group_of_disorders|disease_grouping
MONDO:0019183	biolink:Disease	obsolete inherited odontologic disease		UMLS:CN205756|Orphanet:77830	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019183	UMLS:CN205756|Orphanet:77830	ordo_group_of_disorders|disease_grouping
MONDO:0019186	biolink:Disease	Q fever	A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness.	Orphanet:781|ICD9:083.0|MESH:D011778|MedDRA:10037688|ICD10CM:A78|MedDRA:10037731|NCIT:C34970|GARD:0007515|UMLS:C0034362|EFO:0005224|SCTID:186788009|DOID:11100	mondo.json	Q fever pneumonia|Coxiella burnetii fever|quadrilateral fever|query fever|Coxiella burnetii infectious disease|Coxiella burnetii caused disease or disorder|infection due to Coxiella burnetii|Coxiella burnetii disease or disorder|nine Mile fever|Coxiellosis	http://purl.obolibrary.org/obo/MONDO_0019186	http://purl.bioontology.org/ontology/ICD10CM/A78|http://identifiers.org/snomedct/186788009|Orphanet:781|NCIT:C34970|http://identifiers.org/mesh/D011778|DOID:11100|UMLS:C0034362	gard_rare|ordo_disease
HGNC:17296	biolink:NamedThing	RRM2B			mondo.json		http://identifiers.org/hgnc/17296		
MONDO:0020171	biolink:Disease	obsolete palpebral tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020171		
MONDO:0020170	biolink:Disease	obsolete congenital upper palpebral retraction		Orphanet:98579	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020170	Orphanet:98579	
MONDO:0019185	biolink:Disease	obsolete rhabdomyosarcoma			mondo.json	obsolete rhabdomyosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0019185		
MONDO:0019180	biolink:Disease	hereditary hemorrhagic telangiectasia	Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.	OMIMPS:187300|UMLS:C0039445|GARD:0006626|ICD10CM:I78.0|MESH:D013683|SCTID:21877004|ICD9:448.0|NCIT:C35064|MedDRA:10019883|Orphanet:774|DOID:1270	mondo.json	hereditary hemorrhagic telangiectasia|Rendu-Osler disease|HHT|Rendu-Osler-Weber disease|Osler hemorrhagic telangiectasia syndrome|Osler-Weber-Rendu disease|telangiectasia, hereditary hemorrhagic|telangiectasia, hereditary Hemorrahagic, of Rendu, Osler	http://purl.obolibrary.org/obo/MONDO_0019180	NCIT:C35064|UMLS:C0039445|http://identifiers.org/mesh/D013683|http://identifiers.org/snomedct/21877004|Orphanet:774|https://omim.org/phenotypicSeries/PS187300|http://purl.bioontology.org/ontology/ICD10CM/I78.0|DOID:1270	ordo_disease
GO:0030424	biolink:NamedThing	axon	The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.		mondo.json		http://purl.obolibrary.org/obo/GO_0030424		
GO:0030425	biolink:NamedThing	dendrite	A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.		mondo.json		http://purl.obolibrary.org/obo/GO_0030425		
MONDO:0019182	biolink:Disease	inherited obesity		Orphanet:77828|OMIM:601665	mondo.json	obesity, severe, Autosomal recessive|obesity, association with, Autosomal recessive|monogenic obesity|leanness, inherited, autosomal recessive|obesity, late-onset, Autosomal recessive|obesity, susceptibility to, Autosomal recessive|genetic obesity (disease)|obesity, severe, and type II diabetes, Autosomal recessive|obesity, mild, early-onset, Autosomal recessive|obesity, early-onset, susceptibility to, Autosomal recessive|genetic obesity	http://purl.obolibrary.org/obo/MONDO_0019182	https://omim.org/entry/601665|Orphanet:77828	disease_grouping|ordo_group_of_disorders
CHR:9606-chr11q2	biolink:NamedThing	11q2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr11q2		
GO:0005488	biolink:NamedThing	binding	The selective, non-covalent, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule.		mondo.json	ligand	http://purl.obolibrary.org/obo/GO_0005488		
MONDO:0019181	biolink:Disease	non-syndromic X-linked intellectual disability	Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX.	Orphanet:777|UMLS:C3501611|OMIMPS:309530|DOID:0050776|GARD:0003542|MESH:C564490	mondo.json	intellectual disability, X-linked, nonsyndromic|non-specific X-linked mental retardation|non-specific X-linked intellectual disability|non-syndromic intellectual disability, X-linked|mental retardation, X-linked, nonsyndromic|isolated X-linked intellectual disability|X-linked non-specific intellectual disability|non-syndromic X-linked intellectual disability|nonsyndromic X-linked intellectual disability|mental retardation, nonsyndromic, X-linked|intellectual disability, nonsyndromic, X-linked|X-linked non-syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0019181	UMLS:C3501611|Orphanet:777|DOID:0050776|http://identifiers.org/mesh/C564490|https://omim.org/phenotypicSeries/PS309530	clingen|ordo_etiological_subtype
MONDO:0020179	biolink:Disease	palpebral nevus	A melanocytic nevus that involves the skin of eyelid.	UMLS:C0239460|NCIT:C3880|Orphanet:98588|SCTID:231827008	mondo.json	eyelid nevus|melanocytic nevus of skin of eyelid|nevus of eyelid|skin of eyelid melanocytic nevus|nevus of the eyelid	http://purl.obolibrary.org/obo/MONDO_0020179	NCIT:C3880|Orphanet:98588|http://identifiers.org/snomedct/231827008|UMLS:C0239460	ordo_group_of_disorders|disease_grouping
RO:0002464	biolink:NamedThing	helper property (not for use in curation)			mondo.json		http://purl.obolibrary.org/obo/RO_0002464		
MONDO:0020178	biolink:Disease	palpebral lentiginosis	A lentigo that involves the skin of eyelid.	Orphanet:98587	mondo.json	skin of eyelid lentigo	http://purl.obolibrary.org/obo/MONDO_0020178	Orphanet:98587	disease_grouping|ordo_group_of_disorders
MONDO:0020177	biolink:Disease	pigmented palpebral tumor		UMLS:CN207037|Orphanet:98586	mondo.json	pigmented eyelid tumor|pigmented palpebral neoplasm	http://purl.obolibrary.org/obo/MONDO_0020177	Orphanet:98586|UMLS:CN207037	disease_grouping|ordo_group_of_disorders
MONDO:0020176	biolink:Disease	palpebral sebaceous gland tumor	A neoplasm (disease) that involves the sebaceous gland of eyelid.	Orphanet:98585|UMLS:CN207036	mondo.json	neoplasm of sebaceous gland of eyelid|sebaceous gland of eyelid neoplasm|sebaceous gland of eyelid tumor|sebaceous gland of eyelid neoplasm (disease)|tumor of sebaceous gland of eyelid	http://purl.obolibrary.org/obo/MONDO_0020176	Orphanet:98585|UMLS:CN207036	disease_grouping|ordo_group_of_disorders
HGNC:29277	biolink:NamedThing	ZNF687			mondo.json		http://identifiers.org/hgnc/29277		
MONDO:0020175	biolink:Disease	malignant tumor of palpebral epidermis	A cancer that involves the skin of eyelid.	UMLS:CN207035|Orphanet:98584|SCTID:423425006	mondo.json	cancer of skin of eyelid|skin of eyelid cancer|malignant neoplasm of skin of eyelid|malignant skin of eyelid neoplasm	http://purl.obolibrary.org/obo/MONDO_0020175	Orphanet:98584|UMLS:CN207035|http://identifiers.org/snomedct/423425006	disease_grouping|ordo_group_of_disorders
MONDO:0020174	biolink:Disease	precancerous lesion of palpebral epidermis	A precancerous condition that involves the skin of eyelid.	Orphanet:98583	mondo.json	skin of eyelid precancerous condition	http://purl.obolibrary.org/obo/MONDO_0020174	Orphanet:98583	disease_grouping|ordo_group_of_disorders
GO:0030421	biolink:NamedThing	defecation	The expulsion of feces from the rectum.		mondo.json		http://purl.obolibrary.org/obo/GO_0030421		
MONDO:0019188	biolink:Disease	Rubinstein-Taybi syndrome	A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics.	SCTID:45582004|DOID:1933|OMIMPS:180849|ICD9:759.89|Orphanet:783|GARD:0007593|UMLS:C0035934|NCIT:C75466|DECIPHER:7|MedDRA:10039281|MESH:D012415	mondo.json	Broad thumb-hallux syndrome|Rubinstein syndrome|RSTS|Rubinstein-Taybi Syndrome|Broad thumbs-halluces syndrome|proximal chromosome 16p13.3 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0019188	http://identifiers.org/snomedct/45582004|DOID:1933|http://identifiers.org/mesh/D012415|NCIT:C75466|Orphanet:783|https://omim.org/phenotypicSeries/PS180849|UMLS:C0035934	ordo_malformation_syndrome
MONDO:0019187	biolink:Disease	Axenfeld-Rieger syndrome	Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.	DOID:14686|NCIT:C131001|Orphanet:782|UMLS:CN776842|SCTID:47507006|GARD:0005701|UMLS:C3495488|MESH:C535679|MedDRA:10059255|OMIMPS:180500|ICD9:743.44	mondo.json	Axenfeld syndrome|iridogoniodysgenesis with somatic anomalies|Axenfeldt-Rieger syndrome|Hagedoom syndrome|Rieger syndrome|anomaly, Rieger's|goniodysgenesis hypodontia|RGS - Rieger syndrome|Rieger's anomaly	http://purl.obolibrary.org/obo/MONDO_0019187	http://identifiers.org/snomedct/47507006|UMLS:C3495488|https://omim.org/phenotypicSeries/PS180500|DOID:14686|NCIT:C131001|Orphanet:782|http://identifiers.org/mesh/C535679|UMLS:CN776842	ordo_malformation_syndrome|gard_rare
MONDO:0019189	biolink:Disease	inborn disorder of amino acid and other organic acid metabolism		UMLS:C0342666|SCTID:237911005|Orphanet:79062|ICD9:270.8	mondo.json	disorder of amino acid and organic acid metabolism|disorder of amino acid and other organic acid metabolism	http://purl.obolibrary.org/obo/MONDO_0019189	http://identifiers.org/snomedct/237911005|Orphanet:79062|UMLS:C0342666	disease_grouping|ordo_group_of_disorders
MONDO:0022740	biolink:Disease	Christian Johnson angenieta syndrome		GARD:0001316	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022740		gard_rare
MONDO:0007108	biolink:Disease	anal canal carcinoma	A carcinoma that arises from epithelial cells of the anal canal	Orphanet:424013|MESH:C563020|NCIT:C7489|SCTID:285310000|DOID:6126|OMIM:105580	mondo.json	anal canal carcinoma|carcinoma of anal canal|anal canal and perianal gland carcinoma|cloacogenic carcinoma|anal canal and perianal gland cancer|anal canal cancer|carcinoma of the anal canal	http://purl.obolibrary.org/obo/MONDO_0007108	DOID:6126|http://identifiers.org/snomedct/285310000|Orphanet:424013|https://omim.org/entry/105580|NCIT:C7489	ordo_group_of_disorders|disease_grouping
HP:0100640	biolink:PhenotypicFeature	Laryngeal cyst	Presence of a cyst (sac-like structure) located in the larynx.	UMLS:C0339880|SNOMEDCT_US:195867000	mondo.json		http://purl.obolibrary.org/obo/HP_0100640		
MONDO:0007109	biolink:Disease	congenital dyserythropoietic anemia type 3	Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.	DOID:0111399|UMLS:C0271934|ICD9:285.8|OMIM:105600|SCTID:26409005|Orphanet:98870|GARD:0002002	mondo.json	Erythroreticulosis, hereditary benign|dyserythropoietic anemia, congenital, type III|CDA 3|dyserythropoietic Anemia, congenital, type 3|dyserythropoietic anemia, congenital type 3|CDA type III|anemia with multinucleated erythroblasts|CDA type 3|anemia, congenital dyserythropoietic, type III|CDAN3|CDA III|congenital dyserythropoietic anemia type 3	http://purl.obolibrary.org/obo/MONDO_0007109	http://identifiers.org/snomedct/26409005|UMLS:C0271934|https://omim.org/entry/105600|DOID:0111399|Orphanet:98870	ordo_disease
MONDO:0022742	biolink:Disease	occupational asthma	Asthma attacks caused, triggered, or exacerbated by OCCUPATIONAL EXPOSURE.	UMLS:C0264423|SCTID:57607007|MESH:D059366	mondo.json	industrial asthma|Asthma, Occupational|Occupational Asthma|Asthmas, Occupational|Occupational Asthmas|occupational asthma|Occupational asthma|Industrial asthma	http://purl.obolibrary.org/obo/MONDO_0022742	UMLS:C0264423|http://identifiers.org/mesh/D059366|http://identifiers.org/snomedct/57607007	
MONDO:0009769	biolink:Disease	oculo-palato-cerebral syndrome	Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.	MESH:C564935|Orphanet:2714|OMIM:257910|UMLS:C1850338|SCTID:722055008	mondo.json	oculo-palato-cerebral dwarfism|OPC dwarfism|oculopalatocerebral syndrome|oculopalatocerebral dwarfism	http://purl.obolibrary.org/obo/MONDO_0009769	UMLS:C1850338|https://omim.org/entry/257910|Orphanet:2714|http://identifiers.org/snomedct/722055008|http://identifiers.org/mesh/C564935	ordo_malformation_syndrome
MONDO:0007106	biolink:Disease	anal sphincter dysplasia		MESH:C538254|UMLS:C1862936|OMIM:105563|GARD:0009822	mondo.json	ASDP|anal sphincter dysplasia	http://purl.obolibrary.org/obo/MONDO_0007106	http://identifiers.org/mesh/C538254|UMLS:C1862936|https://omim.org/entry/105563	gard_rare
MONDO:0007107	biolink:Disease	anal sphincter myopathy, internal		UMLS:C1862935|OMIM:105565|MESH:C566287	mondo.json	anal sphincter myopathy, internal|proctalgia fugax due to anal sphincter myopathy	http://purl.obolibrary.org/obo/MONDO_0007107	UMLS:C1862935|http://identifiers.org/mesh/C566287|https://omim.org/entry/105565	
MONDO:0009768	biolink:Disease	oculodentodigital dysplasia, autosomal recessive	Autosomal recessive form of oculodentodigital dysplasia.	MESH:C567605|UMLS:C2749477|OMIM:257850|GARD:0004045	mondo.json	autosomal recessive oculodentodigital dysplasia|oculodentoosseous dysplasia recessive|ODOD, autosomal recessive|oculodentodigital dysplasia, autosomal recessive|ODDD, autosomal recessive|ODOD recessive|oculodentoosseous dysplasia, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009768	https://omim.org/entry/257850|http://identifiers.org/mesh/C567605|UMLS:C2749477	
MONDO:0009767	biolink:Disease	oculocerebral hypopigmentation syndrome, Cross type	Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.	SCTID:17827007|ICD9:759.89|GARD:0000105|Orphanet:2719|OMIM:257800|ICD10CM:E70.3	mondo.json	Kramer syndrome|oculocerebral syndrome with hypopigmentation|oculocerebral hypopigmentation syndrome|Cross syndrome|hypopigmentation oculocerebral syndrome Cross type	http://purl.obolibrary.org/obo/MONDO_0009767	http://identifiers.org/snomedct/17827007|https://omim.org/entry/257800|Orphanet:2719	gard_rare|ordo_malformation_syndrome
MONDO:0007104	biolink:Disease	amyotrophic lateral sclerosis-parkinsonism-dementia complex		Orphanet:90020|OMIM:105500|ICD10CM:G12.2|GARD:0009239	mondo.json	amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome|Guam disease|amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to|amyotrophic lateral sclerosis, Parkinsonism/dementia complex of Guam|PDALS|amyotrophic lateral sclerosis-Parkinsonism/dementia Complex type 1|amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam|Lytico-Bodig disease|Lytigo-Bodig disease|ALS-pDC|amyotrophic lateral sclerosis-PARKINSONISM/dementia complex 1|Parkinsonism-dementia-ALS complex	http://purl.obolibrary.org/obo/MONDO_0007104	Orphanet:90020|https://omim.org/entry/105500	ordo_disease
MONDO:0010756	biolink:Disease	Von Willebrand disease, X-linked form		OMIM:314560|MESH:C564041|UMLS:C1839113	mondo.json	Von Willebrand disease, X-linked form|Von Willebrand disease, X-linked	http://purl.obolibrary.org/obo/MONDO_0010756	UMLS:C1839113|http://identifiers.org/mesh/C564041|https://omim.org/entry/314560	
RO:0002451	biolink:NamedThing	transmitted by	A relationship that holds between a disease and organism	RO:0002451	mondo.json		http://purl.obolibrary.org/obo/RO_0002451		
MONDO:0010755	biolink:Disease	vesicoureteral reflux, X-linked		OMIM:314550|MESH:C564042|UMLS:C1839114	mondo.json	VURX|vesicoureteral reflux, X-linked	http://purl.obolibrary.org/obo/MONDO_0010755	UMLS:C1839114|http://identifiers.org/mesh/C564042|https://omim.org/entry/314550	
MONDO:0007105	biolink:Disease	frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene.	UMLS:C3888102|DOID:0060213|OMIM:105550|UMLS:C1862937	mondo.json	frontotemporal dementia and/or amyotrophic lateral sclerosis|frontotemporal dementia with motor neuron disease caused by mutation in C9ORF72|frontotemporal dementia and/or amyotrophic lateral sclerosis type 1|frontotemporal dementia with motor neuron disease caused by mutation in C9orf72|FTDALS1|ALSFTD|FTDMND|frontotemporal dementia and/or amyotrophic lateral sclerosis 1|frontotemporal dementia and/or motor neuron disease|C9orf72 frontotemporal dementia with motor neuron disease|C9ORF72 frontotemporal dementia with motor neuron disease|amyotrophic lateral sclerosis and/or frontotemporal dementia	http://purl.obolibrary.org/obo/MONDO_0007105	UMLS:C3888102|https://omim.org/entry/105550|DOID:0060213	
MONDO:0009766	biolink:Disease	oculocerebral hypopigmentation syndrome of Preus		UMLS:C2931646|MESH:C537866|Orphanet:2720|SCTID:716174001|OMIM:257790|GARD:0004034	mondo.json	oculocerebral hypopigmentation syndrome type Preus|oculocerebral hypopigmentation syndrome of Preus	http://purl.obolibrary.org/obo/MONDO_0009766	https://omim.org/entry/257790|Orphanet:2720|http://identifiers.org/mesh/C537866|http://identifiers.org/snomedct/716174001|UMLS:C2931646	
MONDO:0010758	biolink:Disease	Wieacker-Wolff syndrome	A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability.	SCTID:722456001|MESH:C536703|Orphanet:3454|GARD:0009984|DOID:0060815|Orphanet:85283|SCTID:719012009|OMIM:314580|MESH:C537472|GARD:0007890	mondo.json	Wieacker-Wolff syndrome, X-linked recessive|Miles-Carpenter syndrome|Wieacker Wolff syndrome|MCS|WRWFXLR|mental retardation, X-linked, with congenital contractures and low fingertip arches|Wieacker syndrome|foot contractures-muscle atrophy-oculomotor apraxia syndrome|WRWF|X-linked intellectual disability, Miles-Carpenter type|intellectual disability-developmental delay-contractures syndrome|contractures of feet, muscle atrophy, and oculomotor apraxia|MRXS4|Wieacker-Wolff syndrome|mental retardation, X-linked, with congenital contractures and Low fingertip arches|Wieacker-Wolff syndrome, X-linked|Miles-CARPENTER X-linked mental retardation syndrome|apraxia, oculomotor, with congenital contractures and muscle atrophy|mental retardation, X-linked, syndromic 4	http://purl.obolibrary.org/obo/MONDO_0010758	Orphanet:85283|http://identifiers.org/mesh/C536703|https://omim.org/entry/314580|DOID:0060815|http://identifiers.org/snomedct/722456001|http://identifiers.org/snomedct/719012009|Orphanet:3454	ordo_malformation_syndrome
MONDO:0007102	biolink:Disease	amyotrophic dystonic paraplegia		MESH:C566292|UMLS:C1862956|OMIM:105300	mondo.json	amyotrophic dystonic paraplegia	http://purl.obolibrary.org/obo/MONDO_0007102	http://identifiers.org/mesh/C566292|UMLS:C1862956|https://omim.org/entry/105300	
MONDO:0009765	biolink:Disease	ocular myopathy with curare sensitivity		UMLS:C1850341|OMIM:257600|MESH:C564937	mondo.json	ocular myopathy with curare sensitivity	http://purl.obolibrary.org/obo/MONDO_0009765	UMLS:C1850341|https://omim.org/entry/257600|http://identifiers.org/mesh/C564937	
CHEBI:33913	biolink:ChemicalSubstance	corrinoid	A derivative of the corrin nucleus, which contains four reduced or partly reduced pyrrole rings joined in a macrocycle by three =C- groups and one direct carbon-carbon bond linking alpha positions.		mondo.json	corrinoids|corrinoid|Corrinoid|Corrinoid protein|corrinoide|Corrinoid protein Co+|corrinoides|Korrinoid	http://purl.obolibrary.org/obo/CHEBI_33913		
MONDO:0009764	biolink:Disease	ocular motor apraxia, Cogan type	Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.	OMIM:257550|GARD:0000016|MESH:C537423|Orphanet:1125|SCTID:405809000	mondo.json	congenital oculomotor apraxia|Cogan's syndrome type 2|oculomotor apraxia Cogan type|saccade initiation failure, congenital|oculomotor apraxia, Cogan type|Cogan syndrome type 2|COMA|ocular motor apraxia|oculomotor apraxia, congenital, Cogan-type|saccade initiation failure congenital	http://purl.obolibrary.org/obo/MONDO_0009764	https://omim.org/entry/257550|Orphanet:1125|http://identifiers.org/mesh/C537423|http://identifiers.org/snomedct/405809000	gard_rare|ordo_disease
MONDO:0010757	biolink:Disease	widow's peak syndrome		OMIM:314570|MESH:C564040|UMLS:C1839112	mondo.json	widow's peak syndrome|widow's peak, ptosis, and skeletal anomalies	http://purl.obolibrary.org/obo/MONDO_0010757	UMLS:C1839112|http://identifiers.org/mesh/C564040|https://omim.org/entry/314570	
MONDO:0007103	biolink:Disease	amyotrophic lateral sclerosis type 1		DOID:0060193|OMIM:105400|MESH:C531617	mondo.json	amyotrophic lateral sclerosis 1|FALS|amyotrophic lateral sclerosis, autosomal dominant|amyotrophic lateral sclerosis 1, autosomal dominant amyotrophic lateral sclerosis 1, autosomal recessive, included|amyotrophic lateral sclerosis 1, autosomal recessive|amyotrophic lateral sclerosis 1, familial|amyotrophic lateral sclerosis, familial|amyotrophic lateral sclerosis, sporadic|amyotrophic lateral sclerosis 1, autosomal dominant|amyotrophic lateral sclerosis, sporadic, included|ALS1|amyotrophic lateral sclerosis type 1|amyotrophic lateral sclerosis, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0007103	http://identifiers.org/mesh/C531617|https://omim.org/entry/105400|DOID:0060193	
MONDO:0007100	biolink:Disease	familial amyloid neuropathy	Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.	SCTID:42295001|DOID:0050638|GARD:0000656|ICD9:277.39|EFO:0004129|ICD10EXP:E85.1+|NCIT:C84554|ICD10EXP:G63.3*|DOID:0050761|Orphanet:85447|MESH:C567782|UMLS:C0206245|OMIM:105210|UMLS:C2751492	mondo.json	familial amyloid polyneuropathy type I (Portuguese-Swedish-Japanese type)|paramyloidosis|familial amyloid polyneuropathy type I|amyloidosis, hereditary, transthyretin-related|amyloid Neuropathies, familial|Corino de Andrade's disease|amyloid cardiomyopathy, transthyretin-related|transthyretin-related hereditary amyloidosis|familial amyloid polyneuropathy|TTR amyloidosis|amyloidosis transthyretin related|transthyretin amyloid neuropathy|familial amyloid neuropathy|amyloidosis, leptomeningeal, transthyretin-related|ATTRV30M-related amyloidosis|transthyretin amyloid polyneuropathy|transthyretin amyloidosis|hereditary amyloidosis, transthyretin-related|ATTRV30M amyloidosis|familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type|familial transthyretin amyloidosis|amyloid polyneuropathy, familial|TTR amyloid neuropathy	http://purl.obolibrary.org/obo/MONDO_0007100	https://omim.org/entry/105210|http://identifiers.org/mesh/C567782|UMLS:C0206245|Orphanet:85447|DOID:0050638|http://identifiers.org/snomedct/42295001|UMLS:C2751492|NCIT:C84554	ordo_disease
MONDO:0009763	biolink:Disease	obesity-hypoventilation syndrome	Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately.	SCTID:190966007|OMIM:257500|ICD9:786.09|MESH:D010845|UMLS:C0031880	mondo.json	obesity-hypoventilation syndrome|Pickwickian syndrome	http://purl.obolibrary.org/obo/MONDO_0009763	https://omim.org/entry/257500|UMLS:C0031880|http://identifiers.org/snomedct/190966007|http://identifiers.org/mesh/D010845	
MONDO:0007101	biolink:Disease	familial primary localized cutaneous amyloidosis		OMIMPS:105250|UMLS:CN204529|MESH:C562643|ICD10EXP:E85.4+|Orphanet:353220|ICD10EXP:L99.0*	mondo.json	FPLCA|hereditary primary cutaneous amyloidosis|primary localized cutaneous amyloidosis	http://purl.obolibrary.org/obo/MONDO_0007101	https://omim.org/phenotypicSeries/PS105250|Orphanet:353220|http://identifiers.org/mesh/C562643|UMLS:CN204529	ordo_disease
MONDO:0009762	biolink:Disease	nystagmus, congenital, autosomal recessive		OMIM:257400|GARD:0009609|UMLS:C3151571|MESH:C564938	mondo.json	nystagmus, congenital, autosomal recessive|Nystagmus, congenital motor, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009762	UMLS:C3151571|http://identifiers.org/mesh/C564938|https://omim.org/entry/257400	
MONDO:0010759	biolink:Disease	Wildervanck syndrome	Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness.	OMIM:314600|MedDRA:10069402|GARD:0005569|UMLS:C0265239|SCTID:79665007|Orphanet:3456|ICD9:759.89	mondo.json	cervico-oculo-acoustic syndrome|Cervicooculoacoustic syndrome|Wildervanck syndrome|cervico-oculo-acoustic dysplasia|COA syndrome	http://purl.obolibrary.org/obo/MONDO_0010759	UMLS:C0265239|http://identifiers.org/snomedct/79665007|https://omim.org/entry/314600|Orphanet:3456	gard_rare|ordo_malformation_syndrome
MONDO:0009761	biolink:Disease	cystic hygroma	A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels.	Orphanet:79486|NCIT:C3724|MedDRA:10058949|DOID:3081|MESH:D018191|ICDO:9173/0|SCTID:399882002|GARD:0006234|OMIM:257350|EFO:1000888	mondo.json	macrocystic lymphatic malformation|cystic hygroma, fetal|nuchal bleb, familial|cystic hygroma|hygroma|cystic lymphangioma	http://purl.obolibrary.org/obo/MONDO_0009761	NCIT:C3724|http://identifiers.org/snomedct/399882002|DOID:3081|Orphanet:79486|http://identifiers.org/mesh/D018191|https://omim.org/entry/257350	gard_rare|ordo_clinical_subtype
MONDO:0009760	biolink:Disease	Norman-Roberts syndrome	Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.	UMLS:C0796089|Orphanet:89844|GARD:0003277|OMIM:257320|DOID:0060902|SCTID:717977003	mondo.json	LIS2|Norman-Roberts syndrome|lissencephaly 2 (Norman-Roberts type)|Microlissencephaly type A|lissencephaly syndrome Norman-Roberts type|lissencephaly syndrome, Norman-Roberts type|lissencephaly 2|Norman Roberts lissencephaly syndrome	http://purl.obolibrary.org/obo/MONDO_0009760	http://identifiers.org/snomedct/717977003|DOID:0060902|Orphanet:89844|UMLS:C0796089|https://omim.org/entry/257320	ordo_clinical_subtype
RO:0002450	biolink:NamedThing	directly positively regulates activity of	The entity A, immediately upstream of the entity B, has an activity that positively regulates an activity performed by B.  For example, A and B may be gene products and binding of B by A positively regulates the kinase activity of B.		mondo.json	molecularly increases activity of	http://purl.obolibrary.org/obo/RO_0002450		
RO:0002448	biolink:NamedThing	directly regulates activity of	The entity A, immediately upstream of the entity B, has an activity that regulates an activity performed by B. For example, A and B may be gene products and binding of B by A regulates the kinase activity of B.  A and B can be physically interacting but not necessarily. Immediately upstream means there are no intermediate entity between A and B.		mondo.json	molecularly controls	http://purl.obolibrary.org/obo/RO_0002448		
RO:0002449	biolink:NamedThing	directly negatively regulates activity of	The entity A, immediately upstream of the entity B, has an activity that negatively regulates an activity performed by B.  For example, A and B may be gene products and binding of B by A negatively regulates the kinase activity of B.		mondo.json	molecularly decreases activity of	http://purl.obolibrary.org/obo/RO_0002449		
MONDO:0010761	biolink:Disease	retinitis pigmentosa Y-linked	Y-linked form of retinitis pigmentosa.	UMLS:C1839079|OMIM:400004|DOID:0110418|ICD10CM:H35.5|MESH:C564035	mondo.json	Y-linked retinitis pigmentosa|retinitis pigmentosa, y-linked, y-linked|RPY|retinitis pigmentosa, Y-linked	http://purl.obolibrary.org/obo/MONDO_0010761	DOID:0110418|https://omim.org/entry/400004|UMLS:C1839079|http://identifiers.org/mesh/C564035	
MONDO:0010760	biolink:Disease	XH antigen		MESH:C009691|OMIM:314800	mondo.json	XH antigen	http://purl.obolibrary.org/obo/MONDO_0010760	https://omim.org/entry/314800|http://identifiers.org/mesh/C009691	
HGNC:29242	biolink:NamedThing	SH3PXD2B			mondo.json		http://identifiers.org/hgnc/29242		
MONDO:0010763	biolink:Disease	spermatogenic failure, Y-linked, 1		OMIM:400042|DOID:0070186|UMLS:C0028960	mondo.json	incomplete Sertoli cell-only syndrome|Sertoli cell-only syndrome, Y-linked|spermatogenic failure, Y-linked, type 1|Sertoli cell-only syndrome, type 2|Sertoli cell-only syndrome, type 1|spermatogenic failure, Y-linked, 1, Y-linked|spermatogenic failure, Y-linked, 1|hypospermatogenesis|SPGFY1	http://purl.obolibrary.org/obo/MONDO_0010763	DOID:0070186|https://omim.org/entry/400042	
MONDO:0010762	biolink:Disease	lymphoma, Hodgkin, Y-linked pseudoautosomal		UMLS:C1839076|MESH:C564034|OMIM:400021	mondo.json	Hodgkin disease, Y-linked Pseudoautosomal|lymphoma, Hodgkin, Y-linked pseudoautosomal	http://purl.obolibrary.org/obo/MONDO_0010762	https://omim.org/entry/400021|UMLS:C1839076|http://identifiers.org/mesh/C564034	
GO:0042401	biolink:NamedThing	cellular biogenic amine biosynthetic process	The chemical reactions and pathways occurring at the level of individual cells resulting in the formation of any of a group of naturally occurring, biologically active amines, such as norepinephrine, histamine, and serotonin, many of which act as neurotransmitters.		mondo.json	biogenic amine synthesis|biogenic amine formation|biogenic amine biosynthesis|biogenic amine anabolism	http://purl.obolibrary.org/obo/GO_0042401		
MONDO:0010765	biolink:Disease	46,XY complete gonadal dysgenesis	46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.	OMIMPS:400044|SCTID:95218005|UMLS:C0018054|DOID:14448|UMLS:C2936694|GARD:0005068|MESH:D006061|NCIT:C120198|Orphanet:242	mondo.json	46,XY CGD|Swyer syndrome|46,XY SEX reversal|46,XY pure gonadal dysgenesis|sex-reversing locus on X, formerly|46, XY CGD|pure gonadal dysgenesis 46,XY|sex-reversing locus on X|46, XY pure gonadal dysgenesis|testis-determining Factor, X-chromosomal|46, XY complete gonadal dysgenesis|gonadal dysgenesis, XY female type|46,XY gonadal dysgenesis|46 XY gonadal dysgenesis	http://purl.obolibrary.org/obo/MONDO_0010765	DOID:14448|http://identifiers.org/mesh/D006061|UMLS:C0018054|https://omim.org/phenotypicSeries/PS400044|NCIT:C120198|UMLS:C2936694|Orphanet:242|http://identifiers.org/snomedct/95218005	prototype_pattern|ordo_malformation_syndrome
MONDO:0010764	biolink:Disease	hearing loss, Y-linked 1		OMIM:400043|UMLS:C3888076|DOID:0111759	mondo.json	DFNY1|deafness, Y-linked 1|deafness, y-linked 1, y-linked	http://purl.obolibrary.org/obo/MONDO_0010764	DOID:0111759|https://omim.org/entry/400043|UMLS:C3888076	
GO:0042403	biolink:NamedThing	thyroid hormone metabolic process	The chemical reactions and pathways involving any of the compounds secreted by the thyroid gland, largely thyroxine and triiodothyronine.		mondo.json	thyroid hormone metabolism	http://purl.obolibrary.org/obo/GO_0042403		
RO:0002447	biolink:NamedThing	phosphorylates			mondo.json		http://purl.obolibrary.org/obo/RO_0002447		
MONDO:0022734	biolink:Disease	chorioretinopathy dominant form microcephaly		GARD:0001308	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022734		gard_rare
MONDO:0034733	biolink:Disease	obsolete cochlear nerve deficiency	OBSOLETE. A rare otorhinolaryngological malformation characterized by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibers present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome, and may be associated with a hypoplastic internal auditory or cochlear nerve canal. [Orphanet:502318]	ICD10CM:H93.3|Orphanet:502318	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034733	Orphanet:502318	
NCBITaxon:2752537	biolink:OrganismalEntity	Talaromyces sect. Talaromyces		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2752537		
MONDO:0022735	biolink:Disease	choroid plexus cyst		NCIT:C4351|GARD:0001309|SCTID:230790004	mondo.json	choroid plexus cyst|CPC - choroid plexus cyst	http://purl.obolibrary.org/obo/MONDO_0022735	http://identifiers.org/snomedct/230790004|NCIT:C4351	gard_rare
MONDO:0022736	biolink:Disease	occupational lung disease		GARD:0012752|ICD9:508.9|SCTID:86157004|UMLS:C0264421	mondo.json	Occupational inhalation disease|Occupational respiratory disease|Occupational lung disease|Occupational pulmonary disease|Occupational lung disorder	http://purl.obolibrary.org/obo/MONDO_0022736	UMLS:C0264421|http://identifiers.org/snomedct/86157004	
MONDO:0022737	biolink:Disease	choroideremia hypopituitarism	This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain.	SCTID:715417002|GARD:0001312|UMLS:C4275146	mondo.json	choroideraemia co-occurrent with hypopituitarism|choroideremia hypopituitarism|choroideraemia hypopituitarism|choroideremia co-occurrent with hypopituitarism	http://purl.obolibrary.org/obo/MONDO_0022737	http://identifiers.org/snomedct/715417002|UMLS:C4275146	gard_rare
MONDO:0022739	biolink:Disease	Christian demyer franken syndrome		GARD:0001315	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022739		gard_rare
HGNC:17264	biolink:NamedThing	POLR1A			mondo.json		http://identifiers.org/hgnc/17264		
HGNC:2277	biolink:NamedThing	COX6A1			mondo.json		http://identifiers.org/hgnc/2277		
HGNC:30242	biolink:NamedThing	TUSC3			mondo.json		http://identifiers.org/hgnc/30242		
HGNC:17272	biolink:NamedThing	CENPJ			mondo.json		http://identifiers.org/hgnc/17272		
MONDO:0007119	biolink:Disease	isolated aniridia	Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.	Orphanet:250923|OMIMPS:106210	mondo.json	nonsyndromic aniridia|aniridia without systemic involvement	http://purl.obolibrary.org/obo/MONDO_0007119	Orphanet:250923|https://omim.org/phenotypicSeries/PS106210	ordo_morphological_anomaly|prototype_pattern
MONDO:0022732	biolink:Disease	obsolete chorea minor		GARD:0006057	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022732		gard_rare
MONDO:0007117	biolink:Disease	obsolete angioedema, hereditary, type 1/2			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007117		
MONDO:0009779	biolink:Disease	autosomal recessive omodysplasia	Autosomal recessive form of omodysplasia.	OMIM:258315|UMLS:C1850318|SCTID:725166005|Orphanet:93329|GARD:0004076	mondo.json	omodysplasia, generalized form|autosomal recessive omodysplasia|omodysplasia type 1|omodysplasia autosomal recessive|omodysplasia, autosomal recessive|micromelic dysplasia, congenital, with dislocation of radius|omodysplasia 1|micromelic dysplasia congenita with dislocation of radius|omodysplasia generalized form|OMOD1|micromelic dysplasia-dislocation of radius syndrome	http://purl.obolibrary.org/obo/MONDO_0009779	UMLS:C1850318|http://identifiers.org/snomedct/725166005|https://omim.org/entry/258315|Orphanet:93329	ordo_clinical_subtype
MONDO:0022733	biolink:Disease	choreoacanthocytosis amyotrophic		GARD:0001306	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022733		gard_rare
MONDO:0007118	biolink:Disease	isolated anhidrosis with normal sweat glands	Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene.	UMLS:C1862871|DOID:0060603|Orphanet:468666|OMIM:106190	mondo.json	anhidrosis caused by mutation in ITPR2|anhidrosis, isolated, with normal sweat glands|ANHD|ITPR2 anhidrosis|Dann-Epstein-Sohar syndrome|isolated generalized anhidrosis with normal sweat glands	http://purl.obolibrary.org/obo/MONDO_0007118	Orphanet:468666|https://omim.org/entry/106190|UMLS:C1862871|DOID:0060603	ordo_disease
MONDO:0010745	biolink:Disease	beta-thalassemia-X-linked thrombocytopenia syndrome	Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.	SCTID:718196002|UMLS:C1839161|DOID:0111767|Orphanet:231393|MESH:C564050|OMIM:314050|NCIT:C134941	mondo.json	thrombocytopenia with BETA-thalassemia, X-linked|thrombocytopenia with beta-thalassemia, X-linked, X-linked recessive|thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis|X-linked thrombocytopenia with Beta-thalassemia|XLTT	http://purl.obolibrary.org/obo/MONDO_0010745	Orphanet:231393|UMLS:C1839161|http://identifiers.org/snomedct/718196002|NCIT:C134941|https://omim.org/entry/314050|http://identifiers.org/mesh/C564050|DOID:0111767	ordo_disease
MONDO:0009778	biolink:Disease	olivopontocerebellar atrophy II, autosomal recessive		MESH:C564930|UMLS:C1850319|OMIM:258300	mondo.json	OPCA II, Fickler-Winkler type|olivopontocerebellar atrophy II, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009778	UMLS:C1850319|http://identifiers.org/mesh/C564930|https://omim.org/entry/258300	
MONDO:0007115	biolink:Disease	angioma serpiginosum, autosomal dominant		OMIM:106050|UMLS:C1970130|GARD:0010189|MESH:C536365	mondo.json	autosomal dominant angioma serpiginosum|angioma serpiginosum, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007115	UMLS:C1970130|https://omim.org/entry/106050|http://identifiers.org/mesh/C536365	gard_rare
MONDO:0009777	biolink:Disease	Oliver syndrome	Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy.	MESH:C564931|OMIM:258200|SCTID:721017000|Orphanet:2920|GARD:0004069|UMLS:C1850320	mondo.json	postaxial polydactyly and intellectual disability|postaxial polydactyly-intellectual disability syndrome|postaxial polydactyly and mental retardation|Oliver syndrome	http://purl.obolibrary.org/obo/MONDO_0009777	UMLS:C1850320|http://identifiers.org/snomedct/721017000|Orphanet:2920|http://identifiers.org/mesh/C564931|https://omim.org/entry/258200	gard_rare|ordo_malformation_syndrome
MONDO:0010744	biolink:Disease	thrombocytopenia with elevated serum IgA and renal disease		GARD:0010576|UMLS:C1839162|OMIM:314000|MESH:C564051	mondo.json	thrombocytopenia with elevated serum IgA and renal disease	http://purl.obolibrary.org/obo/MONDO_0010744	UMLS:C1839162|http://identifiers.org/mesh/C564051|https://omim.org/entry/314000	
MONDO:0007116	biolink:Disease	hereditary neurocutaneous angioma	Hereditary neurocutaneous angioma is characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal neurological deficit. Transmission is autosomal dominant.	OMIM:106070|GARD:0000676|Orphanet:1062	mondo.json	hereditary neurocutaneous malformation|hereditary neurocutaneous angioma|angioma, hereditary neurocutaneous|spinal arterial Venous malformations with cutaneous hemangiomas|angioma hereditary neurocutaneous|hemangiomatosis, disseminated	http://purl.obolibrary.org/obo/MONDO_0007116	https://omim.org/entry/106070|Orphanet:1062	ordo_disease
MONDO:0007113	biolink:Disease	Angelman syndrome	A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.	ICD9:759.89|DOID:1932|ICD10CM:Q93.51|SCTID:76880004|Orphanet:72|DECIPHER:4|GARD:0005810|NCIT:C75462|MedDRA:10049004|MESH:C531619|UMLS:C0162635|OMIM:105830|MESH:D017204|DECIPHER:54	mondo.json	happy puppet syndrome|happy puppet syndrome (formerly)|Angelman syndrome (Type 1)|puppetlike syndrome|happy puppet syndrome, formerly|Angelman syndrome|AS|Angelman syndrome chromosome region|Angelman syndrome (Type 2)	http://purl.obolibrary.org/obo/MONDO_0007113	http://identifiers.org/mesh/C531619|http://identifiers.org/snomedct/76880004|UMLS:C0162635|https://omim.org/entry/105830|NCIT:C75462|http://purl.bioontology.org/ontology/ICD10CM/Q93.51|http://identifiers.org/mesh/D017204|Orphanet:72|DOID:1932	ordo_malformation_syndrome
MONDO:0009776	biolink:Disease	spermatogenic failure 1		Orphanet:217034|SCTID:236803007|UMLS:C0403810|DOID:0070188|MESH:C562902|OMIM:258150	mondo.json	Oligosynaptic infertility|Oligochiasmatic infertility|SPGF1|spermatogenic failure 1	http://purl.obolibrary.org/obo/MONDO_0009776	http://identifiers.org/snomedct/236803007|UMLS:C0403810|https://omim.org/entry/258150|DOID:0070188|http://identifiers.org/mesh/C562902	
MONDO:0010747	biolink:Disease	X-linked dystonia-parkinsonism	X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.	SCTID:698279003|GARD:0010533|DOID:0090057|MESH:C564048|UMLS:C1839130|NCIT:C126330|OMIM:314250|Orphanet:53351	mondo.json	Lubag|X-linked dystonia-parkinsonism/Lubag|dystonia 3, torsion, X-linked|DYT3|dystonia-Parkinsonism, X-linked|X-linked dystonia Parkinsonism|dystonia-Parkinsonism, X-linked, X-linked recessive|torsion dystonia-Parkinsonism, Filipino type|DYT-TAF1|X-linked torsion dystonia-Parkinsonism syndrome|XDP|X-linked dystonia-Parkinsonism syndrome|Lubag syndrome	http://purl.obolibrary.org/obo/MONDO_0010747	UMLS:C1839130|http://identifiers.org/snomedct/698279003|http://identifiers.org/mesh/C564048|https://omim.org/entry/314250|DOID:0090057|NCIT:C126330|Orphanet:53351	ordo_disease
MONDO:0007114	biolink:Disease	angel-shaped phalango-epiphyseal dysplasia	Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.	OMIM:105835|MESH:C536361|MedDRA:10066017|Orphanet:63442|GARD:0000671|SCTID:720984008	mondo.json	Angel shaped phalangoepiphyseal dysplasia|ASPED|ANGEL-SHAPED PHALANGOEPIPHYSEAL dysplasia	http://purl.obolibrary.org/obo/MONDO_0007114	Orphanet:63442|http://identifiers.org/snomedct/720984008|http://identifiers.org/mesh/C536361|https://omim.org/entry/105835	ordo_malformation_syndrome
MONDO:0010746	biolink:Disease	thumbs, congenital Clasped		GARD:0010277|UMLS:CN074234|OMIM:314100	mondo.json	adducted thumbs syndrome|Clasped thumbs, congenital|thumbs, congenital Clasped	http://purl.obolibrary.org/obo/MONDO_0010746	UMLS:CN074234|https://omim.org/entry/314100	
MONDO:0009775	biolink:Disease	Oguchi disease-1	Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene.	OMIM:258100|DOID:0110712	mondo.json	Oguchi disease caused by mutation in SAG|CSNBO1|night blindness, congenital stationary, Oguchi type 1|Oguchi disease 1|Oguchi disease type 1|SAG Oguchi disease|congenital stationary night blindness Oguchi type 1	http://purl.obolibrary.org/obo/MONDO_0009775	DOID:0110712|https://omim.org/entry/258100	
UBERON:2002098	biolink:AnatomicalEntity	hemal spine series			mondo.json		http://purl.obolibrary.org/obo/UBERON_2002098		
MONDO:0009774	biolink:Disease	cloacal exstrophy	A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations.	MedDRA:10067424|MESH:C537748|GARD:0004080|UMLS:C0345217|OMIM:258040|SCTID:20815007|Orphanet:93929|DOID:0080175|HP:0010475|ICD9:759.89	mondo.json	omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex|omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects|OEIS complex|omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome|omphalocele-exstrophy-imperforate anus-spinal defects|cloacal exstrophy|omphalocele - cloacal exstrophy - imperforate anus - spinal defect|cloacal exstrophy (disease)|OEIS syndrome|cloacal exstrophy sequence	http://purl.obolibrary.org/obo/MONDO_0009774	DOID:0080175|http://identifiers.org/mesh/C537748|http://identifiers.org/snomedct/20815007|Orphanet:93929|UMLS:C0345217	ordo_clinical_subtype
MONDO:0010749	biolink:Disease	trigonocephaly-short stature-developmental delay syndrome	A syndrome characterised by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out.	OMIM:314320|GARD:0000243|MESH:C536620|Orphanet:3369|SCTID:733066002	mondo.json	Say Meyer syndrome|Say-Meyer syndrome|trigonocephaly with short stature and developmental delay|trigonocephaly, short stature, and retarded psychomotor development|trigonocephaly, short stature and developmental delay	http://purl.obolibrary.org/obo/MONDO_0010749	Orphanet:3369|http://identifiers.org/snomedct/733066002|https://omim.org/entry/314320|http://identifiers.org/mesh/C536620	ordo_malformation_syndrome
MONDO:0007111	biolink:Disease	aneurysm, intracranial berry type 1		OMIM:105800|UMLS:C1862932|MESH:C566284	mondo.json	aneurysmal subarachnoid hemorrhage, familial|ANIB1|aneurysm, intracranial berry, 1	http://purl.obolibrary.org/obo/MONDO_0007111	UMLS:C1862932|http://identifiers.org/mesh/C566284|https://omim.org/entry/105800	
MONDO:0010748	biolink:Disease	torticollis-keloids-cryptorchidism-renal dysplasia syndrome	Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.	Orphanet:3341|UMLS:C1839129|OMIM:314300|MESH:C536970|GARD:0005230	mondo.json	torticollis, keloids, cryptorchidism, and renal dysplasia|Tkc|Goeminne TKCR syndrome|Tkcr syndrome|torticollis keloids cryptorchidism renal dysplasia|Goeminne syndrome|TKCR	http://purl.obolibrary.org/obo/MONDO_0010748	UMLS:C1839129|https://omim.org/entry/314300|http://identifiers.org/mesh/C536970|Orphanet:3341	ordo_malformation_syndrome
MONDO:0009773	biolink:Disease	odonto-onycho-dermal dysplasia	A form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair.	UMLS:C0796093|OMIM:257980|MESH:C537742|Orphanet:2721|GARD:0004054|SCTID:403762003	mondo.json	OODD|odontoonychodermal dysplasia|ectodermal dysplasia	http://purl.obolibrary.org/obo/MONDO_0009773	https://omim.org/entry/257980|Orphanet:2721|http://identifiers.org/mesh/C537742|http://identifiers.org/snomedct/403762003|UMLS:C0796093	ordo_disease
MONDO:0007112	biolink:Disease	interventricular septum aneurysm	Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated.	Orphanet:99092|UMLS:C1387721|OMIM:105805|MESH:C563239	mondo.json	aneurysm of interventricular septum	http://purl.obolibrary.org/obo/MONDO_0007112	Orphanet:99092|UMLS:C1387721|https://omim.org/entry/105805|http://identifiers.org/mesh/C563239	ordo_morphological_anomaly
MONDO:0009772	biolink:Disease	oculorenocerebellar syndrome		OMIM:257970|GARD:0004050|Orphanet:2715|UMLS:C1850331|MESH:C537739	mondo.json	absence of the cerebellar granular layer, intellectual disability, tapetoretinal degeneration and progressive glomerulopathy|absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy|oculorenocerebellar syndrome|ORC syndrome	http://purl.obolibrary.org/obo/MONDO_0009772	https://omim.org/entry/257970|Orphanet:2715|http://identifiers.org/mesh/C537739|UMLS:C1850331	ordo_malformation_syndrome|gard_rare
HGNC:29256	biolink:NamedThing	SOBP			mondo.json		http://identifiers.org/hgnc/29256		
MONDO:0007110	biolink:Disease	Diamond-Blackfan anemia 1	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene.	MESH:C567302|UMLS:C2676137|OMIM:105650	mondo.json	DBA|DBA1|Blackfan-Diamond syndrome|aregenerative Anemia, chronic congenital|Diamond-Blackfan Anemia type 1|Red cell aplasia, Pure, hereditary|Diamond-Blackfan anemia 1|Aase syndrome|anemia, congenital hypoplastic, of Blackfan and Diamond|RPS19 Diamond-Blackfan anemia|erythrogenesis imperfecta|anemia, congenital erythroid hypoplastic|Aase-Smith syndrome 2|Diamond-Blackfan anemia caused by mutation in RPS19	http://purl.obolibrary.org/obo/MONDO_0007110	UMLS:C2676137|http://identifiers.org/mesh/C567302|https://omim.org/entry/105650	
MONDO:0009771	biolink:Disease	oculotrichodysplasia	Oculotrichodysplasia is characterised by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive.	Orphanet:2718|OMIM:257960|SCTID:722062004|UMLS:C1850332|MESH:C564934	mondo.json	Cecato de Lima-Pinheiro syndrome|OTD|oculotrichodysplasia	http://purl.obolibrary.org/obo/MONDO_0009771	Orphanet:2718|http://identifiers.org/snomedct/722062004|http://identifiers.org/mesh/C564934|UMLS:C1850332|https://omim.org/entry/257960	ordo_malformation_syndrome
MONDO:0009770	biolink:Disease	3MC syndrome 1	Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene.	DOID:0060575|Orphanet:2506|OMIM:257920|EFO:1001978|UMLS:C0796059	mondo.json	3MC syndrome caused by mutation in MASP1|3Mc syndrome type 1|Michels syndrome, formerly|3MC syndrome 1|craniosynostosis with 51D anomalies|3MC syndrome type 1|Michels syndrome|oculopalatoskeletal syndrome|3MC1|MASP1 3MC syndrome	http://purl.obolibrary.org/obo/MONDO_0009770	Orphanet:2506|DOID:0060575|UMLS:C0796059|https://omim.org/entry/257920	
HGNC:29250	biolink:NamedThing	WDR35			mondo.json		http://identifiers.org/hgnc/29250		
MONDO:0010750	biolink:Disease	ulnar hypoplasia-split foot syndrome	Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.	Orphanet:1122|GARD:0005400|OMIM:314360|MESH:C536936|UMLS:C1839123	mondo.json	complete absence of the ulna and of fingers 2 to 5, together with lobster-claw deformity of the feet|Van De Berghe Dequeker syndrome|ulnar hypoplasia with lobster-claw deformity of feet|Van den Berghe-Dequecker syndrome|severe ulnar aplasia and lobster claw feet|ulnar hypoplasia-lobster-claw deformity of feet syndrome|ulnar hypoplasia lobster claw deformity of feet|familial ulnar aplasia and lobster claw syndrome	http://purl.obolibrary.org/obo/MONDO_0010750	http://identifiers.org/mesh/C536936|https://omim.org/entry/314360|Orphanet:1122|UMLS:C1839123	ordo_malformation_syndrome
HGNC:29253	biolink:NamedThing	CC2D2A			mondo.json		http://identifiers.org/hgnc/29253		
MONDO:0010752	biolink:Disease	VACTERL association, X-linked, with or without hydrocephalus		DOID:0111766|UMLS:C2931228|GARD:0008498|OMIM:314390	mondo.json	VACTERL association, X-linked, X-linked recessive|VACTERL association, X-linked, with or without hydrocephalus|X-linked VACTERL-H syndrome|VACTERL association with hydrocephaly, X-linked|VACTERLX|VACTERL-H, X-linked	http://purl.obolibrary.org/obo/MONDO_0010752	https://omim.org/entry/314390|DOID:0111766|UMLS:C2931228	
RO:0002433	biolink:NamedThing	contributes to morphology of	p contributes to morphology of w if and only if a change in the morphology of p entails a change in the morphology of w. Examples: every skull contributes to morphology of the head which it is a part of. Counter-example: nuclei do not generally contribute to the morphology of the cell they are part of, as they are buffered by cytoplasm.		mondo.json		http://purl.obolibrary.org/obo/RO_0002433		
RO:0002434	biolink:NamedThing	interacts with	A relationship that holds between two entities in which the processes executed by the two entities are causally connected.		mondo.json	in pairwise interaction with	http://purl.obolibrary.org/obo/RO_0002434		
MONDO:0010751	biolink:Disease	unique green phenomenon		UMLS:C1839116|OMIM:314380	mondo.json	unique green phenomenon	http://purl.obolibrary.org/obo/MONDO_0010751	https://omim.org/entry/314380|UMLS:C1839116	
HGNC:2280	biolink:NamedThing	COX6B1			mondo.json		http://identifiers.org/hgnc/2280		
MONDO:0010754	biolink:Disease	van den Bosch syndrome	A syndrome characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion.	OMIM:314500|UMLS:C0796192|Orphanet:3417|SCTID:733110004|GARD:0005453|MESH:C563129	mondo.json	van den Bosch syndrome|mental deficiency, choroideremia, acrokeratosis verruciformis,anhidrosis, skeletal deformity	http://purl.obolibrary.org/obo/MONDO_0010754	https://omim.org/entry/314500|http://identifiers.org/mesh/C563129|http://identifiers.org/snomedct/733110004|UMLS:C0796192|Orphanet:3417	ordo_malformation_syndrome|gard_rare
MONDO:0010753	biolink:Disease	cardiac valvular dysplasia, X-linked		Orphanet:555877|OMIM:314400|SCTID:718128009|MESH:C535576|DOID:0111765|Orphanet:1864|GARD:0001096	mondo.json	cardiac valvular dysplasia, X-linked|CVD1|congenital valvular dysplasia|XMVD|myxomatous valvular dystrophy, X-linked|valvular heart disease, congenital	http://purl.obolibrary.org/obo/MONDO_0010753	https://omim.org/entry/314400|DOID:0111765|Orphanet:555877|http://identifiers.org/mesh/C535576|http://identifiers.org/snomedct/718128009	ordo_morphological_anomaly|gard_rare
RO:0002436	biolink:NamedThing	molecularly interacts with	An interaction relationship in which the two partners are molecular entities that directly physically interact with each other for example via a stable binding interaction or a brief interaction during which one modifies the other.		mondo.json		http://purl.obolibrary.org/obo/RO_0002436		
MONDO:0022723	biolink:Disease	chondrodysplasia		SCTID:205465004	mondo.json	chondrodysplasia	http://purl.obolibrary.org/obo/MONDO_0022723	http://identifiers.org/snomedct/205465004	
HGNC:30237	biolink:NamedThing	CC2D1A			mondo.json		http://identifiers.org/hgnc/30237		
MONDO:0022725	biolink:Disease	obsolete chondrodysplasia lethal recessive			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022725		
HP:0100659	biolink:PhenotypicFeature	Abnormal cerebral vascular morphology	An anomaly of the cerebral blood vessels.	UMLS:C4022001	mondo.json	Abnormality of the cerebral vasculature|Abnormality of the cerebral blood vessels	http://purl.obolibrary.org/obo/HP_0100659		
MONDO:0022728	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0022728		
MONDO:0022729	biolink:Disease	chondrodysplasia punctata with steroid sulfatase deficiency		GARD:0006050	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022729		gard_rare
HP:0100658	biolink:PhenotypicFeature	Cellulitis	A bacterial infection and inflammation of the skin und subcutaneous tissues.	UMLS:C0007642|SNOMEDCT_US:385627004|MSH:D017192|SNOMEDCT_US:128936008|MSH:D002481|SNOMEDCT_US:128045006|UMLS:C0162627	mondo.json	Skin infections|Bacterial infection of skin|Skin infection	http://purl.obolibrary.org/obo/HP_0100658		hposlim_core
CHR:9606-chr19q13.11	biolink:NamedThing	19q13.11 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr19q13.11		
HGNC:20893	biolink:NamedThing	BCOR			mondo.json		http://identifiers.org/hgnc/20893		
MONDO:0009749	biolink:Disease	giant axonal neuropathy 1	Giant axonal neuropathy (GAN) is a degenerative disorder that is characterised by a progressive motor and sensitive peripheral and central nervous system neuropathy.	GARD:0006500|OMIM:256850|UMLS:C1850386|Orphanet:643|DOID:0090068	mondo.json	giant axonal neuropathy caused by mutation in gan|giant axonal neuropathy caused by mutation in GAN|GAN1|giant axonal neuropathy type 1|gan|neuropathy, giant axonal|GAN giant axonal neuropathy|gan giant axonal neuropathy|giant axonal neuropathy-1|giant axonal neuropathy 1|giant axonal neuropathy 1, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009749	UMLS:C1850386|https://omim.org/entry/256850|Orphanet:643|DOID:0090068	ordo_disease
MONDO:0009748	biolink:Disease	hereditary sensory and autonomic neuropathy with spastic paraplegia	This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.	MESH:C564948|OMIM:256840|UMLS:C4303565|UMLS:C1850395|Orphanet:139578|SCTID:717827000	mondo.json	HSAN with spastic paraplegia|neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive|hereditary sensory and autonomic neuropathy with spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0009748	http://identifiers.org/snomedct/717827000|http://identifiers.org/mesh/C564948|Orphanet:139578|UMLS:C1850395|https://omim.org/entry/256840|UMLS:C4303565	ordo_disease
MONDO:0009747	biolink:Disease	Navajo neurohepatopathy		OMIM:256810|MESH:C538344|Orphanet:255229|DOID:0080125|GARD:0003972	mondo.json	MPV17-related hepatocerebral mitochondrial DNA depletion syndrome|NN|Navajo familial neurogenic arthropathy|mitochondrial DNA depletion syndrome 6|mitochondrial DNA depletion syndrome 6 (hepatocerebral type)|Navajo neuropathy|MTDPS6|Navajo neurohepatopathy	http://purl.obolibrary.org/obo/MONDO_0009747	http://identifiers.org/mesh/C538344|https://omim.org/entry/256810|Orphanet:255229|DOID:0080125	ordo_disease
MONDO:0009746	biolink:Disease	hereditary sensory and autonomic neuropathy type 4	Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.	OMIM:256800|SCTID:62985007|NCIT:C118633|PMID:8696348|PMID:14272277|DOID:0070146|Orphanet:642|GARD:0003006|GARD:3006|UMLS:C0020074	mondo.json	insensitivity to pain, congenital, with anhidrosis|familial dysautonomia, type 2|congenital insensitivity to pain with anhidrosis|hereditary sensory and autonomic neuropathy type IV|HSAN4|hereditary sensory and autonomic neuropathy 4|CIPA|CIP-anhidrosis syndrome|hereditary sensory neuropathy type 4|congenital insensitivity to pain-anhidrosis syndrome|NTRK1 hereditary sensory and autonomic neuropathy|neuropathy, congenital sensory, with anhidrosis|hereditary sensory neuropathy type IV|HSNAN4|HSAN IV|hereditary sensory and autonomic neuropathy caused by mutation in NTRK1|HSAN 4	http://purl.obolibrary.org/obo/MONDO_0009746	UMLS:C0020074|DOID:0070146|NCIT:C118633|https://omim.org/entry/256800|http://identifiers.org/snomedct/62985007|Orphanet:642	ordo_disease
MONDO:0009745	biolink:Disease	neuronal ceroid lipofuscinosis 5	Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.	OMIM:256731|Orphanet:228360|DOID:0110728|MESH:C575534|GARD:0001223	mondo.json	ceroid lipofuscinosis, neuronal, 5|CLN5 disease, juvenile|neuronal ceroid lipofuscinosis type 5|neuronal ceroid lipofuscinosis, late infantile, Finnish variant|neuronal ceroid lipofuscinosis caused by mutation in CLN5|ceroid lipofuscinosis, neuronal, type 5|CLN5 disease, adult|CLN5 disease, late infantile (subtype)|CLN5 disease|CLN5|ceroid lipofuscinosis, neuronal, 5, variable Age at onset|neuronal ceroid lipofuscinosis 5 variable age of onset|CLN5 neuronal ceroid lipofuscinosis|Finnish Vlincl|neuronal ceroid lipofuscinosis Finnish variant	http://purl.obolibrary.org/obo/MONDO_0009745	http://identifiers.org/mesh/C575534|Orphanet:228360|https://omim.org/entry/256731|DOID:0110728	ordo_etiological_subtype|gard_rare
MONDO:0010734	biolink:Disease	spatial visualization, aptitude for		MESH:C564058|UMLS:C1839262|OMIM:313000	mondo.json	Turner syndrome-associated Neurocognitive phenotype|visuospatial/perceptual abilities|Turner syndrome-associated neurocognitive phenotype, X-linked recessive|spatial visualization, aptitude for|visuospatial/perceptual abilities, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0010734	UMLS:C1839262|http://identifiers.org/mesh/C564058|https://omim.org/entry/313000	
MONDO:0009744	biolink:Disease	neuronal ceroid lipofuscinosis 1	A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.	GARD:0009447|Orphanet:228329|SCTID:720830009|NCIT:C85861|GARD:0001219|OMIM:256730|Orphanet:168486|OMIM:214200|DOID:0110721	mondo.json	ceroid lipofuscinosis, neuronal, 1|ceroid lipofuscinosis, neuronal, 1, variable Age at onset|classic late infantile CLN (type of CLN1)|Santavuori-Haltia disease|CLN1 disease|Santavuori disease|CLN1|neuronal ceroid lipofuscinosis, infantile|neuronal ceroid lipofuscinosis caused by mutation in PPT1|neuronal ceroid lipofuscinosis 1|ceroid lipofuscinosis neuronal 1|neuronal ceroid lipofuscinosis 1 variable age of onset|congenital neuronal ceroid lipofuscinosis|PPT1 neuronal ceroid lipofuscinosis|ceroid lipofuscinosis, neuronal, type 1|infantile neuronal ceroid lipofuscinosis|adult CLN (type of CLN1)|lipofuscin storage disease|ceroid storage disease|CLN1 variable age at onset|infantile CLN (type of CLN1)|neuronal ceroid lipofuscinosis type 1|juvenile CLN (type of CLN1)|congenital NCL	http://purl.obolibrary.org/obo/MONDO_0009744	NCIT:C85861|Orphanet:228329|https://omim.org/entry/256730|http://identifiers.org/snomedct/720830009|DOID:0110721	gard_rare|ordo_disease|ordo_etiological_subtype
MONDO:0010733	biolink:Disease	hereditary spastic paraplegia 2	Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.	UMLS:C1839264|GARD:0004923|OMIM:312920|DOID:0110773|SCTID:723622007|Orphanet:99015	mondo.json	X-linked spastic paraplegia type 2|spastic paraplegia 2, X-linked, X-linked recessive|Sppx2|spastic paraplegia 2|X-linked spastic paraplegia 2|hereditary spastic paraplegia type 2|SPG2|spastic paraplegia type 2|spastic paraplegia 2, X-linked|hereditary spastic paraplegia caused by mutation in PLP1|PLP1 hereditary spastic paraplegia|spastic gait type 2|spastic paraparesis type 2	http://purl.obolibrary.org/obo/MONDO_0010733	Orphanet:99015|UMLS:C1839264|http://identifiers.org/snomedct/723622007|DOID:0110773|https://omim.org/entry/312920	ordo_disease
RO:0002430	biolink:NamedThing	involved in negative regulation of	c involved in regulation of p if c is involved in some p' and p' negatively regulates some p		mondo.json		http://purl.obolibrary.org/obo/RO_0002430		
MONDO:0010736	biolink:Disease	split hand-foot malformation 2	A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26.	DOID:0090027|GARD:0004968|OMIM:313350|MESH:C564056	mondo.json	SHSF2|split hand-foot malformation type 2|split-hand/foot deformity 2|SHFM2|split hand/foot malformation X-linked|split-hand/split-foot anomaly, X-linked|SHFD2|split hand/foot malformation 2|split hand foot anomaly - X-linked|split hand foot deformity 2|split-hand/foot malformation 2	http://purl.obolibrary.org/obo/MONDO_0010736	http://identifiers.org/mesh/C564056|DOID:0090027|https://omim.org/entry/313350	gard_rare
MONDO:0009743	biolink:Disease	neurologic disease, infantile multisystem, with osseous fragility		UMLS:C1850465|MESH:C564954|OMIM:256720	mondo.json	neurologic disease, infantile multisystem, with osseous fragility	http://purl.obolibrary.org/obo/MONDO_0009743	UMLS:C1850465|https://omim.org/entry/256720|http://identifiers.org/mesh/C564954	
RO:0002431	biolink:NamedThing	involved in or involved in regulation of	c involved in or regulates p if and only if either (i) c is involved in p or (ii) c is involved in regulation of p		mondo.json		http://purl.obolibrary.org/obo/RO_0002431		
MONDO:0010735	biolink:Disease	Kennedy disease	Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.	GARD:0006818|MESH:D055534|NCIT:C85233|MedDRA:10068600|Orphanet:481|UMLS:C1839259|OMIM:313200|DOID:0060161	mondo.json	spinal and bulbar muscular atrophy|SMAX1|Kennedy spinal and bulbar muscular atrophy|bulbospinal neuronopathy, X-linked recessive|Kennedy disease|spinal and bulbar muscular atrophy, X-linked 1|X-linked BSMA|spinal and bulbar muscular atrophy, X-linked type 1|spinal and bulbar muscular atrophy of Kennedy, X-linked recessive|spinobulbar muscular atrophy|X-linked spinal and bulbar muscular atrophy|X-linked bulbo-spinal atrophy|X-linked bulbospinal amyotrophy|X-linked bulbospinal muscular atrophy|Kennedy's disease|spinal bulbar muscular atrophy|bulbospinal muscular atrophy, X-linked|SBMA	http://purl.obolibrary.org/obo/MONDO_0010735	http://identifiers.org/mesh/D055534|Orphanet:481|UMLS:C1839259|DOID:0060161|https://omim.org/entry/313200|NCIT:C85233	ordo_disease
MONDO:0009742	biolink:Disease	neuroectodermal melanolysosomal disease	Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment.	UMLS:C1860157|OMIM:256710|SCTID:724091002|Orphanet:33445|MESH:C536203	mondo.json	ELEJALDE disease|Elejalde disease|neuroectodermal melanolysosomal disease	http://purl.obolibrary.org/obo/MONDO_0009742	Orphanet:33445|https://omim.org/entry/256710|UMLS:C1860157|http://identifiers.org/mesh/C536203|http://identifiers.org/snomedct/724091002	ordo_malformation_syndrome
RO:0002432	biolink:NamedThing	is active in	c executes activity in d if and only if c enables p and p occurs_in d.  Assuming no action at a distance by gene products, if a gene product enables (is capable of) a process that occurs in some structure, it must have at least some part in that structure.		mondo.json	enables activity in	http://purl.obolibrary.org/obo/RO_0002432		
MONDO:0010738	biolink:Disease	spondylometaphyseal dysplasia, Golden type	Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.	UMLS:C0796172|GARD:0008343|MESH:C563124|OMIM:313420|Orphanet:168544	mondo.json	spondylometaphyseal dysplasia X-linked|X-linked spondylometaphyseal dysplasia|spondylometaphyseal dysplasia, X-linked|spondylometaphyseal dysplasia, Richmond type|spondylometaphyseal dysplasia Richmond type	http://purl.obolibrary.org/obo/MONDO_0010738	UMLS:C0796172|http://identifiers.org/mesh/C563124|https://omim.org/entry/313420|Orphanet:168544	ordo_disease
MONDO:0009741	biolink:Disease	neuroblastoma, susceptibility to, 1		UMLS:C0027819|OMIM:256700|Orphanet:635	mondo.json	neuroblastoma, susceptibility to, 1, autosomal dominant, somatic mutation|neuroblastoma, susceptibility to|susceptibility to neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0009741	https://omim.org/entry/256700	predisposition
MONDO:0009740	biolink:Disease	neurofaciodigitorenal syndrome	Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.	UMLS:C0796088|GARD:0003964|SCTID:725908007|OMIM:256690|Orphanet:2673|MESH:C537388	mondo.json	Freire Maia-Pinheiro-Opitz syndrome|Nfdr syndrome|neurofaciodigitorenal syndrome|Freire-Maia Pinheiro Opitz syndrome	http://purl.obolibrary.org/obo/MONDO_0009740	UMLS:C0796088|https://omim.org/entry/256690|http://identifiers.org/mesh/C537388|Orphanet:2673|http://identifiers.org/snomedct/725908007	gard_rare|ordo_malformation_syndrome
MONDO:0010737	biolink:Disease	spondyloepiphyseal dysplasia tarda, X-linked	X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern.	OMIM:313400|GARD:0004985	mondo.json	X-linked spondyloepiphyseal dysplasia|X linked spondyloepiphyseal dysplasia tarda|spondyloepiphyseal dysplasia tarda, X-linked|spondyloepiphyseal dysplasia tarda, X-linked recessive|spondyloepiphyseal dysplasia tarda X-linked|Sed tarda, X-linked|SED|SEDT|spondyloepiphyseal dysplasia, late	http://purl.obolibrary.org/obo/MONDO_0010737	https://omim.org/entry/313400	gard_rare
HGNC:29222	biolink:NamedThing	ZNF644			mondo.json		http://identifiers.org/hgnc/29222		
MONDO:0010739	biolink:Disease	Taqi polymorphism		OMIM:313480	mondo.json	TaqI polymorphism|Taqi polymorphism|TAQ1	http://purl.obolibrary.org/obo/MONDO_0010739	https://omim.org/entry/313480	
HGNC:2295	biolink:NamedThing	CP			mondo.json		http://identifiers.org/hgnc/2295		
RO:0002427	biolink:NamedThing	causally downstream of or within	inverse of causally upstream of or within		mondo.json		http://purl.obolibrary.org/obo/RO_0002427		
RO:0002428	biolink:NamedThing	involved in regulation of	c involved in regulation of p if c is involved in some p' and p' regulates some p		mondo.json		http://purl.obolibrary.org/obo/RO_0002428		
RO:0002429	biolink:NamedThing	involved in positive regulation of	c involved in regulation of p if c is involved in some p' and p' positively regulates some p		mondo.json		http://purl.obolibrary.org/obo/RO_0002429		
MONDO:0010741	biolink:Disease	tooth agenesis, selective, X-linked, 1	Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene.	OMIM:313500|UMLS:C1970757|MESH:C567060	mondo.json	STHAGX1|EDA tooth agenesis|tooth agenesis caused by mutation in EDA|hypodontia/oligodontia, X-linked, 1|tooth agenesis, selective, X-linked, type 1|tooth agenesis, selective, X-linked, 1|tooth agenesis, selective, X-linked 1, X-linked dominant	http://purl.obolibrary.org/obo/MONDO_0010741	https://omim.org/entry/313500|http://identifiers.org/mesh/C567060|UMLS:C1970757	
MONDO:0010740	biolink:Disease	taurodontism, microdontia, and dens invaginatus		GARD:0010068|OMIM:313490|UMLS:C1839235|MESH:C536947	mondo.json	taurodontism, microdontia, and dens invaginatus	http://purl.obolibrary.org/obo/MONDO_0010740	UMLS:C1839235|http://identifiers.org/mesh/C536947|https://omim.org/entry/313490	gard_rare
GO:0042423	biolink:NamedThing	catecholamine biosynthetic process	The chemical reactions and pathways resulting in the formation of any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine.		mondo.json	catecholamine synthesis|catecholamine formation|catecholamine anabolism|catecholamine biosynthesis	http://purl.obolibrary.org/obo/GO_0042423		
HGNC:2291	biolink:NamedThing	COX7B			mondo.json		http://identifiers.org/hgnc/2291		
MONDO:0010743	biolink:Disease	thrombocytopenia 1		Orphanet:852|MESH:C564052|OMIM:313900|GARD:0005176|UMLS:C1839163	mondo.json	thrombocytopenia, X-linked, X-linked recessive|XLT|thrombocytopenia, X-linked, intermittent|THC|THC1|thrombocytopenia type 1|thrombocytopenia, X-linked|thrombocytopenia, X-linked, intermittent, X-linked recessive|X-linked thrombocytopenia|thrombocytopenia 1|X-linked thrombocytopenia with normal platelets|thrombocytopenia, X-linked, 1	http://purl.obolibrary.org/obo/MONDO_0010743	UMLS:C1839163|Orphanet:852|http://identifiers.org/mesh/C564052|https://omim.org/entry/313900	ordo_etiological_subtype
MONDO:0010742	biolink:Disease	pentalogy of Cantrell	Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.	NCIT:C99011|OMIM:313850|GARD:0007359|UMLS:C0559483|Orphanet:1335|SCTID:281587000|MESH:D058502|ICD9:759.89	mondo.json	thoraco-abdominal syndrome|Cantrell pentalogy|Tas|THAS|Cantrell deformity|pentalogy of Cantrell|thoracoabdominal syndrome|Midline defects, X-linked|Cantrell Haller Ravitsch syndrome|Cantrell syndrome	http://purl.obolibrary.org/obo/MONDO_0010742	Orphanet:1335|NCIT:C99011|UMLS:C0559483|https://omim.org/entry/313850|http://identifiers.org/mesh/D058502|http://identifiers.org/snomedct/281587000	ordo_malformation_syndrome|gard_rare
PO:0006210	biolink:NamedThing	protoderm	A portion of meristem tissue (PO:0009013) that is the outer layer of an apical meristem (PO:0020144), or the outer layer of a plant embryo proper (PO:0000001), and gives rise to a portion of epidermis (PO:0005679).	PO_GIT:125	mondo.json	前表皮、原表皮 (Japanese, exact)|protodermis (Spanish, exact)|dermatogen cell (related)|portion of protoderm tissue (exact)	http://purl.obolibrary.org/obo/PO_0006210		
MONDO:0022712	biolink:Disease	oculo digital syndrome		MESH:C535922|GARD:0004025|UMLS:C2931063	mondo.json	multiple ophthalmic anomalies and digital hypoplasia|Chemke-Oliver-Mallek syndrome|Chemke Oliver Mallek syndrome	http://purl.obolibrary.org/obo/MONDO_0022712	http://identifiers.org/mesh/C535922|UMLS:C2931063	gard_rare
HGNC:30225	biolink:NamedThing	SLC52A1			mondo.json		http://identifiers.org/hgnc/30225		
HGNC:20889	biolink:NamedThing	LRIG2			mondo.json		http://identifiers.org/hgnc/20889		
MONDO:0022714	biolink:Disease	chester porphyria	Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic.	OMIM:176010|GARD:0010185	mondo.json	PORC|porphyria, Chester type	http://purl.obolibrary.org/obo/MONDO_0022714		gard_rare
MONDO:0022715	biolink:Disease	Chiari malformation type 3		GARD:0009233|OMIM:118420|SCTID:253186001	mondo.json	Arnold Chiari malformation type III|Chiari malformation type III|Chiari type III malformation	http://purl.obolibrary.org/obo/MONDO_0022715	http://identifiers.org/snomedct/253186001	gard_rare
HGNC:30224	biolink:NamedThing	SLC52A2			mondo.json		http://identifiers.org/hgnc/30224		
HP:0002197	biolink:PhenotypicFeature	Generalized-onset seizure	A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.	UMLS:C0234533|SNOMEDCT_US:246545002|UMLS:C1833488|MSH:D012640	mondo.json	Generalised-onset seizure|Generalised onset seizure|Generalized seizures|Primary generalised seizure|Generalized-onset seizures|Generalized onset seizure|Generalised seizures|Primary generalized seizure	http://purl.obolibrary.org/obo/HP_0002197		
MONDO:0022716	biolink:Disease	Chiari malformation type 4		GARD:0009234|SCTID:253187005|OMIM:118420	mondo.json	Arnold Chiari malformation type IV|Chiari type IV malformation|Chiari malformation type IV	http://purl.obolibrary.org/obo/MONDO_0022716	http://identifiers.org/snomedct/253187005	gard_rare
HP:0002198	biolink:PhenotypicFeature	Dilated fourth ventricle	An abnormal dilatation of the fourth cerebral ventricle.	UMLS:C1847117	mondo.json	Enlarged fourth ventricle	http://purl.obolibrary.org/obo/HP_0002198		
HGNC:17245	biolink:NamedThing	CPA6			mondo.json		http://identifiers.org/hgnc/17245		
HGNC:30220	biolink:NamedThing	RFT1			mondo.json		http://identifiers.org/hgnc/30220		
CHEBI:33909	biolink:ChemicalSubstance	metallotetrapyrrole			mondo.json	metal-tetrapyrrole|metal-tetrapyrrole complex|metallotetrapyrroles	http://purl.obolibrary.org/obo/CHEBI_33909		
MONDO:0009759	biolink:Disease	mosaic variegated aneuploidy syndrome 1	Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene.	OMIM:257300|UMLS:CN031748|DOID:0080141	mondo.json	mosaic variegated aneuploidy syndrome type 1|Mosaic variegated aneuploidy syndrome type 1|MVA1|BUB1B mosaic variegated aneuploidy syndrome|MVA syndrome|mosaic variegated aneuploidy syndrome caused by mutation in BUB1B|MOSAIC variegated aneuploidy syndrome 1|mosaic variegated aneuploidy syndrome 1	http://purl.obolibrary.org/obo/MONDO_0009759	https://omim.org/entry/257300|DOID:0080141|UMLS:CN031748	
MONDO:0009758	biolink:Disease	congenital stationary night blindness 1B	Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene.	UMLS:C1850362|DOID:0110865|OMIM:257270	mondo.json	CSNB, complete, autosomal recessive|congenital stationary night blindness caused by mutation in GRM6|night blindness, congenital stationary, complete, autosomal recessive|night blindness, congenital stationary, type 1B|CSNB1B|GRM6 congenital stationary night blindness|night blindness, congenital stationary (complete), 1B, autosomal recessive|congenital stationary night blindness 1B|congenital stationary night blindness 1B autosomal recessive|congenital stationary night blindness type 1B|autosomal recessive complete congenital stationary night blindness	http://purl.obolibrary.org/obo/MONDO_0009758	https://omim.org/entry/257270|UMLS:C1850362|DOID:0110865	
MONDO:0009757	biolink:Disease	Niemann-Pick disease, type C1	Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.	UMLS:C3179455|SCTID:18927009|NCIT:C126864|OMIM:257220|DOID:0070113|GARD:0007207	mondo.json	Niemann-Pick disease with cholesterol esterification block|Niemann-Pick disease type C1|Niemann-Pick disease, type D|Niemann-Pick disease, nova Scotian type|Niemann-Pick disease, type C|NPC1|Niemann-Pick disease without sphingomyelinase deficiency|Niemann-Pick disease, subacute juvenile form|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|type C1 Niemann-Pick disease|Niemann-PICK disease, type C1|Niemann-Pick disease, type C1|Niemann-Pick disease, chronic neuronopathic form	http://purl.obolibrary.org/obo/MONDO_0009757	NCIT:C126864|DOID:0070113|https://omim.org/entry/257220|UMLS:C3179455|http://identifiers.org/snomedct/18927009	
MONDO:0009756	biolink:Disease	Niemann-Pick disease type A	Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.	SCTID:52165006|OMIM:257200|NCIT:C126561|DOID:0070111|GARD:0007206|Orphanet:77292|MESH:D052536|UMLS:C0268242	mondo.json	sphingomyelin lipidosis|Niemann-PICK disease, type A|Niemann-Pick disease, Intermediate, protracted neurovisceral|sphingomyelinase deficiency	http://purl.obolibrary.org/obo/MONDO_0009756	DOID:0070111|https://omim.org/entry/257200|UMLS:C0268242|http://identifiers.org/snomedct/52165006|http://identifiers.org/mesh/D052536|NCIT:C126561|Orphanet:77292	ordo_disease
MONDO:0010723	biolink:Disease	retinitis pigmentosa 2	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene.	UMLS:C2681923|MESH:C567523|DOID:0110415|ICD10CM:H35.5|OMIM:312600	mondo.json	retinitis pigmentosa caused by mutation in RP2|RP2 retinitis pigmentosa|RP2|retinitis pigmentosa 2|retinitis pigmentosa type 2	http://purl.obolibrary.org/obo/MONDO_0010723	http://identifiers.org/mesh/C567523|UMLS:C2681923|DOID:0110415|https://omim.org/entry/312600	
MONDO:0010722	biolink:Disease	X-linked retinal dysplasia		GARD:0004680|UMLS:C4275241|OMIM:312550|Orphanet:1852|SCTID:715240000	mondo.json	retinal dysplasia, primary|retinal dysplasia X-linked|PRD	http://purl.obolibrary.org/obo/MONDO_0010722	Orphanet:1852|http://identifiers.org/snomedct/715240000|https://omim.org/entry/312550|UMLS:C4275241	ordo_disease|gard_rare
MONDO:0009755	biolink:Disease	neutrophil actin dysfunction	Solitary or multiple, slightly raised, pigmented lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma.	UMLS:C1850380|MESH:C564942|NCIT:C3694|Orphanet:625|OMIM:257150	mondo.json	Atypical Nevus|neutrophil actin dysfunction|Clark's Nevus|Nevus with architectural disorder|dysplastic nevi|lentiginous Nevus|NAD|Nevus with architectural disorder and cytologic atypia of melanocytes|dysplastic Nevus|Clark Nevus|dysplastic nevus	http://purl.obolibrary.org/obo/MONDO_0009755	https://omim.org/entry/257150|UMLS:C1850380|NCIT:C3694|Orphanet:625|http://identifiers.org/mesh/C564942	
GO:0042430	biolink:NamedThing	indole-containing compound metabolic process	The chemical reactions and pathways involving compounds that contain an indole (2,3-benzopyrrole) skeleton.		mondo.json	indole and derivative metabolism|indole derivative metabolism|ketole metabolic process|indole-containing compound metabolism|ketole metabolism|indole and derivative metabolic process|indole derivative metabolic process	http://purl.obolibrary.org/obo/GO_0042430		
MONDO:0010725	biolink:Disease	X-linked retinoschisis	A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.	GARD:0004690|NCIT:C75483|SCTID:86923008|DOID:0060763|Orphanet:792|OMIM:312700	mondo.json	X-linked juvenile retinoschisis|retinoschisis 1, X-linked, juvenile|retinoschisis juvenile X chromosome-linked|XLRS|juvenile retinoschisis|RS|XJR|X-linked juvenile retinoschisis type 1|retinoschisis X-linked|X-linked retinoschisis|juvenile X-linked retinoschisis|RS1|XLRS1|retinoschisis, X-linked recessive|X-linked juvenile retinoschisis 1|retinoschisis, X-linked	http://purl.obolibrary.org/obo/MONDO_0010725	NCIT:C75483|Orphanet:792|http://identifiers.org/snomedct/86923008|DOID:0060763|https://omim.org/entry/312700	ordo_malformation_syndrome
MONDO:0009754	biolink:Disease	neutropenia, lethal congenital, with eosinophilia		MESH:C564943|UMLS:C1850381|OMIM:257100|GARD:0006107	mondo.json	neutropenia lethal congenital with eosinophilia|lethal congenital neutropenia with eosinophilia|neutropenia, lethal congenital, with eosinophilia	http://purl.obolibrary.org/obo/MONDO_0009754	https://omim.org/entry/257100|UMLS:C1850381|http://identifiers.org/mesh/C564943	gard_rare
MONDO:0009753	biolink:Disease	obsolete neurovisceral storage disease with Curvilinear bodies		UMLS:C1850382|OMIM:257000|MESH:C564944	mondo.json	neurovisceral storage disease with Curvilinear bodies	http://purl.obolibrary.org/obo/MONDO_0009753	https://omim.org/entry/257000|UMLS:C1850382|http://identifiers.org/mesh/C564944	
MONDO:0010724	biolink:Disease	obsolete RP6			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010724		
MONDO:0010727	biolink:Disease	Russell-silver syndrome, X-linked		SCTID:702412005|ICD9:758.81|OMIM:312780	mondo.json	Russell-Silver-like syndrome with skin pigmentation|Partington syndrome|Russell-silver syndrome, X-linked	http://purl.obolibrary.org/obo/MONDO_0010727	https://omim.org/entry/312780|http://identifiers.org/snomedct/702412005	
MONDO:0009752	biolink:Disease	neuropathy, painful		MESH:C564945|UMLS:C1850383|OMIM:256870	mondo.json	neuropathy, painful	http://purl.obolibrary.org/obo/MONDO_0009752	UMLS:C1850383|https://omim.org/entry/256870|http://identifiers.org/mesh/C564945	
MONDO:0010726	biolink:Disease	Rett syndrome	A severe neurodevelopmental disorder affecting the central nervous system.	MedDRA:10039000|ICD9:330.8|DOID:1206|NCIT:C75488|MESH:D015518|UMLS:C0035372|SCTID:68618008|GARD:0005696|OMIM:312750|Orphanet:778	mondo.json	Rett syndrome, atypical|Rett syndrome, preserved speech variant|Rett's disorder|Rts|Rett syndrome|autism, dementia, ataxia, and loss of purposeful hand use|Rett syndrome, Zappella variant|cerebroatrophic hyperammonemia|rett syndrome, X-linked dominant|rett syndrome, atypical, X-linked dominant|rett syndrome, preserved speech variant, X-linked dominant|RTT	http://purl.obolibrary.org/obo/MONDO_0010726	https://omim.org/entry/312750|http://identifiers.org/mesh/D015518|http://identifiers.org/snomedct/68618008|NCIT:C75488|Orphanet:778|UMLS:C0035372|DOID:1206	ordo_disease
MONDO:0009751	biolink:Disease	neuropathy, hereditary sensory, atypical	A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities.	UMLS:C1850384|OMIM:256860|DOID:0070160|MESH:C564946	mondo.json	neuropathy, hereditary sensory, atypical|atypical hereditary sensory neuropathy	http://purl.obolibrary.org/obo/MONDO_0009751	UMLS:C1850384|https://omim.org/entry/256860|http://identifiers.org/mesh/C564946|DOID:0070160	
MONDO:0009750	biolink:Disease	neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive		UMLS:C1850385|MESH:C564947|OMIM:256855	mondo.json	Charcot-Marie-Tooth disease with excessive myelin folding, autosomal recessive|neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive|HMSN with excessive myelin Outfolding, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009750	UMLS:C1850385|https://omim.org/entry/256855|http://identifiers.org/mesh/C564947	
MONDO:0010729	biolink:Disease	X-linked intellectual disability, Schimke type	X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.	UMLS:C1839320|GARD:0009288|OMIM:312840|Orphanet:85285|SCTID:719010001|MESH:C536630	mondo.json	choreoathetosis with intellectual disability, X-linked|childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and intellectual disability, ophthalmoplegia, and deafness|choreoathetosis with intellectual disability X- linked|progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness|choreoathetosis with mental retardation, X-linked|Schimke X-linked intellectual disability syndrome|Schimke X-linked mental retardation syndrome|choreoathetosis with mental retardation X- linked|childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness	http://purl.obolibrary.org/obo/MONDO_0010729	https://omim.org/entry/312840|http://identifiers.org/snomedct/719010001|Orphanet:85285|UMLS:C1839320|http://identifiers.org/mesh/C536630	ordo_malformation_syndrome
MONDO:0010728	biolink:Disease	SCARF syndrome	A syndrome characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.	UMLS:C1839321|OMIM:312830|Orphanet:3134|MESH:C536625|GARD:0000247|SCTID:734173003	mondo.json	SCARF syndrome|skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities	http://purl.obolibrary.org/obo/MONDO_0010728	https://omim.org/entry/312830|Orphanet:3134|UMLS:C1839321|http://identifiers.org/snomedct/734173003|http://identifiers.org/mesh/C536625	ordo_malformation_syndrome
CHEBI:33906	biolink:ChemicalSubstance	cobalt corrinoid			mondo.json	cobalt corrinoids|cobalt-corrinoids	http://purl.obolibrary.org/obo/CHEBI_33906		
RO:0002418	biolink:NamedThing	causally upstream of or within	p 'causally upstream or within' q iff (1) the end of p is before the end of q and (2) the execution of p exerts some causal influence over the outputs of q; i.e. if p was abolished or the outputs of p were to be modified, this would necessarily affect q.		mondo.json	affects	http://purl.obolibrary.org/obo/RO_0002418		
MONDO:0010730	biolink:Disease	combined immunodeficiency, X-linked		OMIM:312863	mondo.json	combined immunodeficiency, X-linked, moderate, X-linked recessive|immunodeficiency 6|Xcid|combined immunodeficiency, X-linked|CIDX	http://purl.obolibrary.org/obo/MONDO_0010730	https://omim.org/entry/312863	
RO:0002411	biolink:NamedThing	causally upstream of	p is causally upstream of q if and only if p precedes q and p and q are linked in a causal chain		mondo.json		http://purl.obolibrary.org/obo/RO_0002411		
GO:0042435	biolink:NamedThing	indole-containing compound biosynthetic process	The chemical reactions and pathways resulting in the formation of compounds that contain an indole (2,3-benzopyrrole) skeleton.		mondo.json	indole-containing compound biosynthesis|indole-containing compound anabolism|indole derivative biosynthesis|indole derivative biosynthetic process|indole-containing compound synthesis|indole-containing compound formation	http://purl.obolibrary.org/obo/GO_0042435		
RO:0002412	biolink:NamedThing	immediately causally upstream of	p is immediately causally upstream of q iff both (a) p immediately precedes q and (b) p is causally upstream of q. In addition, the output of p  must be an input of q.		mondo.json		http://purl.obolibrary.org/obo/RO_0002412		
MONDO:0010732	biolink:Disease	spastic paraparesis-deafness syndrome	Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterised by spastic paraparesis (beginning at about 10 years of age) and hearing deficits.	SCTID:715504003|ICD10CM:G11.4|GARD:0005555|Orphanet:2815|UMLS:C2931291|MESH:C536692|OMIM:312910	mondo.json	spastic paraparesis - deafness|spastic paraparesis and deafness|familial spastic paraparesis and deafness|Wells-Jankovic syndrome	http://purl.obolibrary.org/obo/MONDO_0010732	http://identifiers.org/snomedct/715504003|Orphanet:2815|http://identifiers.org/mesh/C536692|UMLS:C2931291|https://omim.org/entry/312910	ordo_malformation_syndrome
MONDO:0010731	biolink:Disease	Simpson-Golabi-Behmel syndrome	Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.	GARD:0007649|Orphanet:373|MESH:C537340|NCIT:C131002|ICD9:759.89|SCTID:439143004	mondo.json	Golabi-Rosen syndrome|SDYS|Sgbs|Simpson-Golabi-Behmel syndrome|DGSX|SGB syndrome|Sara Angers syndrome|SGBS|dysplasia gigantism syndrome, X-linked|X-linked dysplasia gigantism syndrome	http://purl.obolibrary.org/obo/MONDO_0010731	http://identifiers.org/mesh/C537340|Orphanet:373|NCIT:C131002|http://identifiers.org/snomedct/439143004	ordo_malformation_syndrome|gard_rare
HGNC:30213	biolink:NamedThing	ATP13A2			mondo.json		http://identifiers.org/hgnc/30213		
MONDO:0022781	biolink:Disease	cleft lip palate-tetraphocomelia		GARD:0001383	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022781		gard_rare
MONDO:0022782	biolink:Disease	cleft lower lip cleft lateral canthi chorioretinal		GARD:0001386	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022782		gard_rare
MONDO:0019131	biolink:Disease	ossification anomalies-psychomotor developmental delay syndrome	Ossification anomalies-psychomotor developmental delay syndrome is characterised by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodelling during ossification.	UMLS:CN227577|Orphanet:73230	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019131	UMLS:CN227577|Orphanet:73230	ordo_disease
MONDO:0019130	biolink:Disease	tubular renal disease-cardiomyopathy syndrome	A syndrome characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy.	UMLS:CN205654|Orphanet:73224	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019130	UMLS:CN205654|Orphanet:73224	ordo_disease
MONDO:0022785	biolink:Disease	cleft palate cardiac defect ectrodactyly		GARD:0001387	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022785		gard_rare
CHR:9606-chr11p15-p14	biolink:NamedThing	11p15-p14 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr11p15-p14		
MONDO:0022786	biolink:Disease	cleft palate colobomata radial synostosis deafness		GARD:0001388	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022786		gard_rare
MONDO:0022787	biolink:Disease	cleft palate heart disease polydactyly absent tibia		GARD:0001389	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022787		gard_rare
MONDO:0007148	biolink:Disease	appendicitis, proneness to		OMIM:107700	mondo.json	appendicitis, susceptibility|appendicitis, proneness to	http://purl.obolibrary.org/obo/MONDO_0007148	https://omim.org/entry/107700	
MONDO:0020126	biolink:Disease	obsolete rare peripheral neuropathy	OBSOLETE. Rare peripheral neuropathy.	Orphanet:98496	mondo.json	rare peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0020126	Orphanet:98496	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
HGNC:29203	biolink:NamedThing	TBC1D24			mondo.json		http://identifiers.org/hgnc/29203		
MONDO:0007149	biolink:Disease	obsolete arbitrary restriction polymorphism 1		UMLS:C1862555|OMIM:107750	mondo.json	restriction fragment length polymorphism 14A|Arp-14A|anonymous restriction polymorphism 1|arbitrary restriction polymorphism 1|arbitrary restriction polymorphism type 1|Rflp-14A	http://purl.obolibrary.org/obo/MONDO_0007149	https://omim.org/entry/107750|UMLS:C1862555	
MONDO:0010799	biolink:Disease	deafness, aminoglycoside-induced		OMIM:580000|UMLS:C1838854|MESH:C564013|Orphanet:168609|DOID:0111734	mondo.json	deafness, streptomycin-induced|aminoglycoside-induced deafness|mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure|mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure|deafness, mitochondrial, modifier of, mitochondrial|mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure|aminoglycoside-induced hearing loss|mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure|mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure|mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure|mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure|deafness, aminoglycoside-induced|mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure|streptomycin ototoxicity	http://purl.obolibrary.org/obo/MONDO_0010799	UMLS:C1838854|https://omim.org/entry/580000|Orphanet:168609|http://identifiers.org/mesh/C564013|DOID:0111734	ordo_etiological_subtype|predisposition
MONDO:0020125	biolink:Disease	acquired neuromuscular junction disease	An instance of neuromuscular junction disease that is acquired during the lifetime of the individual.	UMLS:CN207015|Orphanet:98494	mondo.json	acquired neuromuscular junction disease	http://purl.obolibrary.org/obo/MONDO_0020125	Orphanet:98494|UMLS:CN207015	ordo_group_of_disorders|disease_grouping
MONDO:0007146	biolink:Disease	obsolete apnea, central sleep			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007146		
MONDO:0020124	biolink:Disease	neuromuscular junction disease	Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.	UMLS:C0751950|Orphanet:98491|Orphanet:98495|DOID:439|SCTID:128213006|MESH:D020511	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020124	http://identifiers.org/mesh/D020511|Orphanet:98491|DOID:439|http://identifiers.org/snomedct/128213006|UMLS:C0751950	disease_grouping|ordo_group_of_disorders
HGNC:29205	biolink:NamedThing	ERGIC1			mondo.json		http://identifiers.org/hgnc/29205		
MONDO:0020123	biolink:Disease	metabolic myopathy	A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction.	Orphanet:98486|NCIT:C98985|ICD9:359.89|MedDRA:10068836|SCTID:26111005|UMLS:C0270984	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020123	NCIT:C98985|http://identifiers.org/snomedct/26111005|Orphanet:98486|UMLS:C0270984	ordo_group_of_disorders|disease_grouping
MONDO:0007147	biolink:Disease	obstructive sleep apnea syndrome	Cessation of air flow during sleep due to upper airway obstruction.	ICD9:780.57|SCTID:78275009|NCIT:C27168|MESH:D020181|EFO:0003918|DOID:0050848|HP:0002870|OMIM:107650|ICD9:327.23|ICD10CM:G47.33|UMLS:C0520679	mondo.json	apnea, obstructive sleep|OSAHS|obstructive sleep apnea syndrome|obstructive sleep Apneas|Osa|syndrome, sleep apnea, obstructive|sleep apnea syndrome, obstructive|syndrome, obstructive sleep apnea|obstructive sleep apnea|syndrome, upper airway resistance, sleep apnea|sleep apnea/hypopnea syndrome|Apneas, obstructive sleep|sleep Apneas, obstructive|upper airway resistance sleep apnea syndrome|sleep apnea hypopnea syndrome	http://purl.obolibrary.org/obo/MONDO_0007147	DOID:0050848|NCIT:C27168|http://purl.bioontology.org/ontology/ICD10CM/G47.33|http://identifiers.org/mesh/D020181|UMLS:C0520679|http://identifiers.org/snomedct/78275009|https://omim.org/entry/107650	
RO:0002410	biolink:NamedThing	causally related to	This relation groups causal relations between material entities and causal relations between processes		mondo.json		http://purl.obolibrary.org/obo/RO_0002410		
MONDO:0020122	biolink:Disease	acquired idiopathic inflammatory myopathy	An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies.	ICD9:359.79|GARD:0009128|Orphanet:98482	mondo.json	IIm|idiopathic inflammatory myopathy, familial|IMM|idiopathic inflammatory myositis|idiopathic inflammatory myopathies	http://purl.obolibrary.org/obo/MONDO_0020122	Orphanet:98482	disease_grouping|ordo_group_of_disorders
MONDO:0007144	biolink:Disease	aortic arch interruption, facial palsy, and retinal coloboma		UMLS:C1862681|OMIM:107550|MESH:C566271	mondo.json	aortic arch interruption, facial palsy, and retinal coloboma	http://purl.obolibrary.org/obo/MONDO_0007144	https://omim.org/entry/107550|UMLS:C1862681|http://identifiers.org/mesh/C566271	
MONDO:0007145	biolink:Disease	aplasia cutis congenita	Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.	GARD:0005835|OMIM:107600|ICD9:757.39|Orphanet:1114|NCIT:C98822|HP:0001057|SCTID:35484002|GARD:0000755	mondo.json	aplasia cutis congenita, nonsyndromic|scalp defect congenital|aplasia cutis congenita nonsyndromic|scalp defect, congenital|congenital defect of skull and scalp|ACC|aplasia cutis congenita recessive|aplasia cutis congenita|aplasia cutis congenita (disease)	http://purl.obolibrary.org/obo/MONDO_0007145	NCIT:C98822|http://identifiers.org/snomedct/35484002|https://omim.org/entry/107600|Orphanet:1114	ordo_malformation_syndrome|gard_rare
MONDO:0020121	biolink:Disease	muscular dystrophy	Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities.	MESH:D009136|DOID:9884|SCTID:73297009|Orphanet:98473|ICD10CM:G71.0|ICD9:359.1|UMLS:C0026850|GARD:0007922|MedDRA:10028356|NCIT:C84910	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020121	http://purl.bioontology.org/ontology/ICD10CM/G71.0|DOID:9884|NCIT:C84910|http://identifiers.org/snomedct/73297009|http://identifiers.org/mesh/D009136|Orphanet:98473|UMLS:C0026850	ordo_group_of_disorders|disease_grouping|gard_rare
MONDO:0007142	biolink:Disease	Townes-Brocks syndrome	Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.	UMLS:C0265246|MESH:C536974|NCIT:C99085|GARD:0007784|SCTID:24750000|OMIMPS:107480|ICD9:759.89|Orphanet:857|UMLS:CN034849|DOID:0050887	mondo.json	sensorineural deafness with imperforate anus and hypoplastic thumbs|TBS|imperforate anus with hand, foot and ear anomalies|Townes syndrome|renal-Ear-anal-radial syndrome|TBS1|Townes-Brocks syndrome 1|Townes-Brocks syndrome|rear syndrome|anus, imperforate, with hand, foot, and Ear anomalies|Townes-Brocks-branchiootorenal-like syndrome|renal-ear-anal-radial syndrome|deafness, sensorineural, with imperforate anus and hypoplastic thumbs|deafness, sensorineural, with imperforate anus and thumb anomalies|anus, imperforate, with hand, foot and ear anomalies	http://purl.obolibrary.org/obo/MONDO_0007142	http://identifiers.org/snomedct/24750000|Orphanet:857|NCIT:C99085|DOID:0050887|http://identifiers.org/mesh/C536974|https://omim.org/phenotypicSeries/PS107480|UMLS:CN034849|UMLS:C0265246	prototype_pattern|ordo_malformation_syndrome|gard_rare
MONDO:0020120	biolink:Disease	skeletal muscle disorder	A disease involving the skeletal muscle tissue.	UMLS:C1533847|Orphanet:98472|Orphanet:206634|SCTID:75047002|MESH:D009135|MedDRA:10028641	mondo.json	skeletal muscle tissue disease or disorder|disorder of skeletal muscle tissue|disease of skeletal muscle tissue|disease or disorder of skeletal muscle tissue|skeletal muscle tissue disease	http://purl.obolibrary.org/obo/MONDO_0020120	http://identifiers.org/snomedct/75047002|UMLS:C1533847|Orphanet:98472	disease_grouping|ordo_group_of_disorders
MONDO:0007143	biolink:Disease	aortic arch anomaly-facial dysmorphism-intellectual disability syndrome	Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.	OMIM:107500|MESH:C537785|GARD:0000739|Orphanet:1110|UMLS:C1862682	mondo.json	familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism|aortic arch anomaly - peculiar facies - intellectual disability|aortic arch anomaly with peculiar facies and intellectual disability|aortic arch anomaly-peculiar facies-intellectual disability syndrome|aortic arch anomaly with peculiar facies and mental retardation	http://purl.obolibrary.org/obo/MONDO_0007143	http://identifiers.org/mesh/C537785|https://omim.org/entry/107500|UMLS:C1862682|Orphanet:1110	ordo_malformation_syndrome
MONDO:0022780	biolink:Disease	cleft lip palate pituitary deficiency		GARD:0001382	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022780		gard_rare
NCIT:C36807	biolink:NamedThing	Dysplastic Epithelial Cell			mondo.json		http://purl.obolibrary.org/obo/NCIT_C36807		
MONDO:0007140	biolink:Disease	obsolete antiphospholipid syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007140		
RO:0002404	biolink:NamedThing	causally downstream of	inverse of upstream of		mondo.json		http://purl.obolibrary.org/obo/RO_0002404		
MONDO:0007141	biolink:Disease	obsolete antiviral state repressor, regulator of		OMIM:107440	mondo.json	AVRR|antiviral STATE repressor, regulator OF|antiviral state repressor, regulator of	http://purl.obolibrary.org/obo/MONDO_0007141	https://omim.org/entry/107440	
RO:0002405	biolink:NamedThing	immediately causally downstream of			mondo.json		http://purl.obolibrary.org/obo/RO_0002405		
MONDO:0020119	biolink:Disease	X-linked syndromic intellectual disability	A syndromic intellectual disability with an X-linked mode of inheritance.	Orphanet:98464|DOID:0060309|OMIMPS:309510	mondo.json	syndromic X-linked intellectual disability|X-linked syndromic intellectual disability|syndromic X-linked mental retardation|mental retardation, X-linked syndromic|syndromic intellectual disability, X-linked|intellectual disability, X-linked syndromic	http://purl.obolibrary.org/obo/MONDO_0020119	https://omim.org/phenotypicSeries/PS309510|DOID:0060309|Orphanet:98464	ordo_group_of_disorders|disease_grouping
GO:0042446	biolink:NamedThing	hormone biosynthetic process	The chemical reactions and pathways resulting in the formation of any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone.		mondo.json	hormone formation|hormone anabolism|hormone synthesis|hormone biosynthesis	http://purl.obolibrary.org/obo/GO_0042446		
HGNC:17228	biolink:NamedThing	RAD54B			mondo.json		http://identifiers.org/hgnc/17228		
MONDO:0020118	biolink:Disease	dense granule disease		Orphanet:98456|UMLS:CN207010	mondo.json	Delta granule disease	http://purl.obolibrary.org/obo/MONDO_0020118	Orphanet:98456|UMLS:CN207010	ordo_group_of_disorders|disease_grouping
GO:0042445	biolink:NamedThing	hormone metabolic process	The chemical reactions and pathways involving any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone.		mondo.json	hormone metabolism	http://purl.obolibrary.org/obo/GO_0042445		
MONDO:0020117	biolink:Disease	alpha granule disease		Orphanet:98455|UMLS:CN207009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020117	Orphanet:98455|UMLS:CN207009	ordo_group_of_disorders|disease_grouping
NCBITaxon:39030	biolink:OrganismalEntity	Apodemus agrarius		GC_ID:1	mondo.json	Apodemus pratensis|Old World field mouse|striped field mouse|Eurasian field mouse	http://purl.obolibrary.org/obo/NCBITaxon_39030		
MONDO:0020116	biolink:Disease	obsolete rare blood coagulation disease	OBSOLETE. Any of the forms of blood coagulation disease that have a rare incidence.	Orphanet:98429	mondo.json	rare blood coagulation disease|rare coagulation disorder	http://purl.obolibrary.org/obo/MONDO_0020116	Orphanet:98429	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0019137	biolink:Disease	non-24-hour sleep-wake syndrome	Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations.	Orphanet:73267|GARD:0010949|ICD10CM:G47.24|SCTID:230496009	mondo.json	hypernychthemeral syndrome|circadian rhythm sleep disorder, free running type|non 24 hour sleep wake disorder|circadian rhythm sleep disorder, free-running type|non-24	http://purl.obolibrary.org/obo/MONDO_0019137	http://identifiers.org/snomedct/230496009|http://purl.bioontology.org/ontology/ICD10CM/G47.24|Orphanet:73267	ordo_disease
MONDO:0022778	biolink:Disease	cleft lip palate intellectual disability corneal opacity		GARD:0001380	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022778		gard_rare
MONDO:0019136	biolink:Disease	Zygomycosis	Any infection due to a fungus of the Zygomycota phylum. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The infecting fungi have a predilection for invading vessels of the arterial system, causing embolization and subsequent necrosis of surrounding tissue.	MESH:D020096|GARD:0010224|MedDRA:10061418|SCTID:59277005|MESH:D009091|DOID:8485|Orphanet:73263|SCTID:76627001|UMLS:C0043541|ICD9:117.7|ICD10CM:B46|MedDRA:10028098|NCIT:C77212|EFO:0007380	mondo.json	Zygomycota infectious disease|mucormycosis	http://purl.obolibrary.org/obo/MONDO_0019136	http://purl.bioontology.org/ontology/ICD10CM/B46|http://identifiers.org/snomedct/59277005|http://identifiers.org/snomedct/76627001|http://identifiers.org/mesh/D020096|DOID:8485|NCIT:C77212|Orphanet:73263|UMLS:C0043541	gard_rare|ordo_disease
MONDO:0022779	biolink:Disease	cleft lip palate oligodontia syndactyly pili torti		GARD:0001381	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022779		gard_rare
MONDO:0019139	biolink:Disease	acquired hemophilia	Acquired hemophilia is a bleeding disorder that interferes with the body's blood clotting process. Signs and symptoms include prolonged bleeding, frequent nosebleeds, bruising throughout the body, solid swellings of congealed blood (hematomas), hematuria, and gastrointestinal or urologic bleeding. Acquired hemophilia occurs when the body's immune system attacks and disables a certain protein that helps the blood clot. About half of the cases are associated with other conditions, such as pregnancy, autoimmune disease, cancer, skin diseases, or allergic reactions to medications.	MESH:C536392|ICD10CM:D68.311|UMLS:C1096116|Orphanet:73274|GARD:0010350|MedDRA:10053745	mondo.json	acquired haemophilia|acquired hemophilia|hemophilia, acquired	http://purl.obolibrary.org/obo/MONDO_0019139	UMLS:C1096116|http://purl.bioontology.org/ontology/ICD10CM/D68.311	ordo_disease
MONDO:0019138	biolink:Disease	bleeding diathesis due to a collagen receptor defect		Orphanet:73271	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019138	Orphanet:73271	ordo_disease
MONDO:0019133	biolink:Disease	visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome	Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterised by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO).	Orphanet:73246|UMLS:CN205657	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019133	UMLS:CN205657|Orphanet:73246	ordo_malformation_syndrome
MONDO:0019132	biolink:Disease	spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome		Orphanet:73245|UMLS:CN205656	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019132	UMLS:CN205656|Orphanet:73245	ordo_malformation_syndrome
MONDO:0019135	biolink:Disease	obsolete paracoccidioidomycosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019135		
MONDO:0019134	biolink:Disease	central neurocytoma	Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good.	GARD:0010641|UMLS:C0206719|Orphanet:73256|MESH:D018306|EFO:1000856|ICDO:9506/1|NCIT:C3791|DOID:14174|ONCOTREE:CNC	mondo.json	central neurocytoma (WHO grade II)|Neurolipocytoma|CNC	http://purl.obolibrary.org/obo/MONDO_0019134	UMLS:C0206719|http://identifiers.org/mesh/D018306|NCIT:C3791|Orphanet:73256|DOID:14174	gard_rare|ordo_disease
HP:0100699	biolink:PhenotypicFeature	Scarring	A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed.	SNOMEDCT_US:48677004|UMLS:C0008767|MSH:D002921	mondo.json	Scarring|Scar tissue	http://purl.obolibrary.org/obo/HP_0100699		
MONDO:0022770	biolink:Disease	circumscribed cutaneous aplasia of the vertex		GARD:0001365	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022770		gard_rare
MONDO:0022771	biolink:Disease	circumscribed disseminated keratosis Jadassohn lew type		GARD:0001366	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022771		gard_rare
MONDO:0022772	biolink:Disease	classic Kaposi sarcoma	A vascular sarcoma that commonly occurs in the lower extremities. It occurs predominantly in elderly male patients of southern European ancestry. It is characterized by the presence of purple, red-blue, or dark brown macular lesions, plaques and nodules. This disease is usually slow growing, although it can spread to the lungs and the gastrointestinal tract. If necessary, cutaneous lesions can be treated with radiation.	UMLS:C0279084|NCIT:C9112	mondo.json	classic Kaposi's sarcoma|Kaposi sarcoma, classic|Kaposi sarcoma classical type|classic Kaposi sarcoma|Kaposi's sarcoma, classical type	http://purl.obolibrary.org/obo/MONDO_0022772	UMLS:C0279084|NCIT:C9112	
MONDO:0019120	biolink:Disease	pili bifurcati	Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle.	Orphanet:720|SCTID:717360009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019120	Orphanet:720|http://identifiers.org/snomedct/717360009	ordo_disease
MONDO:0022775	biolink:Disease	cleft lip and palate malrotation cardiopathy		GARD:0001371	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022775		gard_rare
MONDO:0022776	biolink:Disease	cleft lip and/or palate with mucous cysts of lower		GARD:0001372	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022776		gard_rare
MONDO:0022777	biolink:Disease	cleft lip palate dysmorphism kumar type		GARD:0001375	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022777		gard_rare
MONDO:0010789	biolink:Disease	MELAS syndrome	MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.	MESH:D017241|GARD:0007009|ICD10CM:E88.41|ICD9:277.87|SCTID:39925003|OMIM:540000|MedDRA:10053872|NCIT:C84885|DOID:3687|Orphanet:550|UMLS:C0162671	mondo.json	mitochondrial encephalomyopathy, lactic acidosis and stroke|MELAS syndrome|mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes|mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes|MELAS	http://purl.obolibrary.org/obo/MONDO_0010789	DOID:3687|https://omim.org/entry/540000|http://identifiers.org/mesh/D017241|NCIT:C84885|http://purl.bioontology.org/ontology/ICD10CM/E88.41|http://identifiers.org/snomedct/39925003|UMLS:C0162671|Orphanet:550	ordo_disease
MONDO:0007159	biolink:Disease	arthrogryposis-like hand anomaly-sensorineural deafness syndrome	Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.	GARD:0000784|Orphanet:1144|OMIM:108200|MESH:C535386|UMLS:C1862471|SCTID:720515009	mondo.json	arthrogryposis-like hand anomaly and sensorineural deafness|distal arthrogryposis type 6|DA6|familial hand abnormality and sensori-neural deafness|arthrogryposis and sensorineural deafness|arthrogryposis, distal, type 6	http://purl.obolibrary.org/obo/MONDO_0007159	http://identifiers.org/mesh/C535386|https://omim.org/entry/108200|UMLS:C1862471|Orphanet:1144|http://identifiers.org/snomedct/720515009	ordo_malformation_syndrome
MONDO:0020115	biolink:Disease	secondary polycythemia	Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia).	UMLS:C1318533|MedDRA:10036062|Orphanet:98428|NCIT:C27178	mondo.json	secondary erythrocytosis|secondary polycythemia	http://purl.obolibrary.org/obo/MONDO_0020115	NCIT:C27178|UMLS:C1318533|Orphanet:98428	disease_grouping|ordo_group_of_disorders
MONDO:0010788	biolink:Disease	Leber hereditary optic neuropathy	Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.	NCIT:C84808|Orphanet:104|GARD:0006870|DOID:705|MESH:D029242|OMIM:535000|UMLS:C0917796|SCTID:58610003	mondo.json	Leber’s disease|Leber's optic atrophy|Leber hereditary optic neuropathy|Leber Hereditary optic atrophy|LHON|optic atrophy, Leber type|Leber's hereditary optic neuropathy|Leber optic atrophy	http://purl.obolibrary.org/obo/MONDO_0010788	https://omim.org/entry/535000|http://identifiers.org/mesh/D029242|http://identifiers.org/snomedct/58610003|NCIT:C84808|Orphanet:104|DOID:705|UMLS:C0917796	ordo_disease
MONDO:0020114	biolink:Disease	obsolete polycythemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020114		
HGNC:29215	biolink:NamedThing	SHROOM4			mondo.json		http://identifiers.org/hgnc/29215		
HGNC:29216	biolink:NamedThing	ARHGAP31			mondo.json		http://identifiers.org/hgnc/29216		
MONDO:0007157	biolink:Disease	arthrogryposis, distal, type 1A		SCTID:715314008|DOID:0111597|OMIM:108120	mondo.json	arthrogryposis, distal, type 2B4|AMC|arthrogryposis multiplex congenita|arthrogryposis, distal, type 1A|arthrogryposis, distal, type 1|arthrogryposis multiplex congenita, distal, type 1|DA1A	http://purl.obolibrary.org/obo/MONDO_0007157	DOID:0111597|http://identifiers.org/snomedct/715314008|https://omim.org/entry/108120	
MONDO:0020113	biolink:Disease	primary acquired red cell aplasia		Orphanet:98421|MedDRA:10038184|UMLS:C0034902	mondo.json	red cell aplasia|primary autoimmune red cell aplasia	http://purl.obolibrary.org/obo/MONDO_0020113	Orphanet:98421	ordo_group_of_disorders|disease_grouping
MONDO:0007158	biolink:Disease	arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.	Orphanet:1154|GARD:0004047|UMLS:C1862472|OMIM:108145|SCTID:715217004	mondo.json	arthrogryposis, distal, type 5|distal arthrogryposis type 5|distal arthrogryposis with ophthalmoplegia|arthrogryposis with oculomotor limitation and electroretinal abnormalities|distal arthrogryposis type IIB|DA5|Arthogryposis with oculomotor limitation and electroretinal abnormalities|arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome|arthrogryposis, distal, type 2B|arthrogryposis ophthalmoplegia retinopathy|oculomelic amyoplasia|arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0007158	https://omim.org/entry/108145|http://identifiers.org/snomedct/715217004|UMLS:C1862472|Orphanet:1154	ordo_malformation_syndrome|gard_rare
MONDO:0020112	biolink:Disease	vitamin B12- and folate-independent constitutional megaloblastic anemia		ICD10CM:D53.0|Orphanet:98415	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020112	Orphanet:98415	disease_grouping|ordo_group_of_disorders
MONDO:0007155	biolink:Disease	arteritis, familial granulomatous, with juvenile polyarthritis		MESH:C566253|UMLS:C1862510|OMIM:108050	mondo.json	arteritis, familial granulomatous, with juvenile polyarthritis	http://purl.obolibrary.org/obo/MONDO_0007155	https://omim.org/entry/108050|UMLS:C1862510|http://identifiers.org/mesh/C566253	
MONDO:0020111	biolink:Disease	obsolete constitutional megaloblastic anemia due to folate metabolism disorder		Orphanet:98408|UMLS:CN227786	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020111	UMLS:CN227786|Orphanet:98408	ordo_group_of_disorders
MONDO:0007156	biolink:Disease	arthritis, sacroiliac		OMIM:108100|UMLS:C0748473|MESH:C563037	mondo.json	arthritis, sacroiliac	http://purl.obolibrary.org/obo/MONDO_0007156	http://identifiers.org/mesh/C563037|https://omim.org/entry/108100|UMLS:C0748473	
MONDO:0020110	biolink:Disease	pulmonary agenesis	An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities.	SCTID:66489009|NCIT:C99028|MESH:C562992|UMLS:C0265780|ICD9:748.5|MedDRA:10037322|Orphanet:984|GARD:0009119	mondo.json	unilateral lobar pulmonary agenesis|unilateral lung agenesis|congenital lung agenesis|congenital absence of lung	http://purl.obolibrary.org/obo/MONDO_0020110	http://identifiers.org/mesh/C562992|http://identifiers.org/snomedct/66489009|UMLS:C0265780|NCIT:C99028|Orphanet:984	ordo_morphological_anomaly
MONDO:0007153	biolink:Disease	arteries, anomalies of		OMIM:108000	mondo.json	arteries, anomalies of	http://purl.obolibrary.org/obo/MONDO_0007153	https://omim.org/entry/108000	
MONDO:0007154	biolink:Disease	arteriovenous malformations of the brain	Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures.	Orphanet:46724|MESH:D002538|NCIT:C2936|OMIM:108010|SCTID:234142008|GARD:0003020|UMLS:C0007772|DOID:0060688	mondo.json	cerebral arteriovenous malformation|intracranial hemorrhage in brain arteriovenous malformations, susceptibility to|cerebral arteriovenous malformations|intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation|intracranial arteriovenous malformation|arteriovenous malformation of the brain, somatic|Bavm|arteriovenous malformations of the brain|intracranial AVM	http://purl.obolibrary.org/obo/MONDO_0007154	UMLS:C0007772|http://identifiers.org/snomedct/234142008|DOID:0060688|https://omim.org/entry/108010|Orphanet:46724|http://identifiers.org/mesh/D002538|NCIT:C2936	ordo_morphological_anomaly
MONDO:0007151	biolink:Disease	arms, malformation of		OMIM:107900|MESH:C566258	mondo.json	arms, malformation of	http://purl.obolibrary.org/obo/MONDO_0007151	http://identifiers.org/mesh/C566258|https://omim.org/entry/107900	
MONDO:0010792	biolink:Disease	lethal infantile mitochondrial myopathy	Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.	UMLS:C1838876|MESH:C564017|OMIM:551000|Orphanet:254857|SCTID:766251006	mondo.json	mitochondrial myopathy, lethal, infantile|lethal infantile mitochondrial disease|LIMM|LIMD	http://purl.obolibrary.org/obo/MONDO_0010792	http://identifiers.org/snomedct/766251006|http://identifiers.org/mesh/C564017|Orphanet:254857|UMLS:C1838876|https://omim.org/entry/551000	ordo_disease
MONDO:0007152	biolink:Disease	arrhythmogenic right ventricular dysplasia 1	Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene.	Orphanet:3403|OMIM:107970|UMLS:C1862511|DOID:0110070	mondo.json	TGFB3 arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic right ventricular cardiomyopathy 1|Uhl anomaly|arrhythmogenic right ventricular dysplasia, familial, type 1|ARVD1|arrhythmogenic right ventricular cardiomyopathy caused by mutation in TGFB3|cardiomyopathy, right ventricular dilated|ARVC1|arrhythmogenic right ventricular dysplasia type 1|familial arrhythmogenic right ventricular dysplasia 1|arrhythmogenic right ventricular dysplasia, familial, 1	http://purl.obolibrary.org/obo/MONDO_0007152	UMLS:C1862511|https://omim.org/entry/107970|DOID:0110070	
MONDO:0010791	biolink:Disease	myoglobinuria, recurrent	An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. The disorder may occur sporadically, or be inherited in either a recessive or dominant manner.	OMIM:550500|MESH:C564018|GARD:0003879	mondo.json	myoglobinuria, recurrent|myoglobinuria recurrent	http://purl.obolibrary.org/obo/MONDO_0010791	https://omim.org/entry/550500|http://identifiers.org/mesh/C564018	gard_rare
MONDO:0010794	biolink:Disease	NARP syndrome	Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.	MESH:C537396|OMIM:551500|MedDRA:10062940|UMLS:C1328349|DOID:0111273|Orphanet:644|GARD:0000262	mondo.json	NARP syndrome|NARP|neuropathy, ataxia, and retinitis pigmentosa|neuropathy-ataxia-retinitis pigmentosa syndrome|neuropathy ataxia retinitis pigmentosa syndrome|neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome	http://purl.obolibrary.org/obo/MONDO_0010794	https://omim.org/entry/551500|UMLS:C1328349|http://identifiers.org/mesh/C537396|DOID:0111273|Orphanet:644	ordo_disease
MONDO:0010793	biolink:Disease	nephropathy, chronic tubulointerstitial		OMIM:551200|MESH:C564016|UMLS:C1838875	mondo.json	nephropathy, chronic tubulointerstitial	http://purl.obolibrary.org/obo/MONDO_0010793	https://omim.org/entry/551200|http://identifiers.org/mesh/C564016|UMLS:C1838875	
MONDO:0020109	biolink:Disease	obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder		UMLS:CN227785|Orphanet:98396	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020109	Orphanet:98396|UMLS:CN227785	ordo_group_of_disorders
MONDO:0007150	biolink:Disease	arcus senilis	A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera.	DOID:11342|MedDRA:10003082|UMLS:C0003742|SCTID:231924000|MESH:D001112|OMIM:107800|EFO:1000818	mondo.json	corneal arcus|arcus corneae|arcus senilis|arcus of cornea	http://purl.obolibrary.org/obo/MONDO_0007150	http://identifiers.org/snomedct/231924000|DOID:11342|UMLS:C0003742|http://identifiers.org/mesh/D001112|https://omim.org/entry/107800	
MONDO:0020108	biolink:Disease	autoimmune hemolytic anemia	Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia.	MESH:D000744|UMLS:C0002880|SCTID:413603009|EFO:1001264|MedDRA:10002046|NCIT:C34378|OMIM:205700|Orphanet:98375|GARD:0005870|DOID:718|ICD9:283.0|CSP:0427-1178	mondo.json	autoimmune haemolytic anaemia|anemia, autoimmune hemolytic|immuno-hemolytic anemia|AIHA|idiopathic autoimmune hemolytic anemia|acquired autoimmune hemolytic anemia|autoimmune hemolytic anemia|anemia hemolytic autoimmune|AHA|familial auto-immune hemolytic anemia (subtype)	http://purl.obolibrary.org/obo/MONDO_0020108	NCIT:C34378|http://identifiers.org/mesh/D000744|DOID:718|http://identifiers.org/snomedct/413603009|https://omim.org/entry/205700|UMLS:C0002880|Orphanet:98375	ordo_group_of_disorders|disease_grouping
MONDO:0010796	biolink:Disease	Parkinson disease, mitochondrial		UMLS:C1838867|OMIM:556500|MESH:C564015	mondo.json	Parkinson disease, mitochondrial	http://purl.obolibrary.org/obo/MONDO_0010796	https://omim.org/entry/556500|http://identifiers.org/mesh/C564015|UMLS:C1838867	
MONDO:0020107	biolink:Disease	obsolete hemolytic anemia due to an erythrocyte nucleotide metabolism disorder		UMLS:CN227784|Orphanet:98374	mondo.json	hemolytic anemia due to an erythroenzymopathy	http://purl.obolibrary.org/obo/MONDO_0020107	UMLS:CN227784|Orphanet:98374	ordo_group_of_disorders
MONDO:0019129	biolink:Disease	global developmental delay-osteopenia-ectodermal defect syndrome	This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies.	Orphanet:73223|UMLS:CN227576|SCTID:717813005	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019129	UMLS:CN227576|Orphanet:73223|http://identifiers.org/snomedct/717813005	ordo_malformation_syndrome
MONDO:0010795	biolink:Disease	oncocytic neoplasm	A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05)	NCIT:C7072|OMIM:553000|UMLS:C1378050	mondo.json	oncocytoma|oncocytic tumor|oncocytic neoplasm|oncocytoma, benign	http://purl.obolibrary.org/obo/MONDO_0010795	NCIT:C7072|https://omim.org/entry/553000|UMLS:C1378050	
MONDO:0020106	biolink:Disease	obsolete hemolytic anemia due to a disorder of glycolytic enzymes		UMLS:CN227783|Orphanet:98372	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020106	UMLS:CN227783|Orphanet:98372	ordo_group_of_disorders
MONDO:0010798	biolink:Disease	proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome	Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterised by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus.	Orphanet:3390|UMLS:C3151959|OMIM:560000|MESH:C564014|GARD:0004532	mondo.json	renal tubulopathy, diabetes mellitus, and cerebellar ataxia|renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA|proximal tubulopathy, diabetes mellitus and cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0010798	Orphanet:3390|https://omim.org/entry/560000|http://identifiers.org/mesh/C564014|UMLS:C3151959	ordo_disease
MONDO:0010797	biolink:Disease	Pearson syndrome	Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction.	UMLS:C0342784|SCTID:237985009|MedDRA:10062941|GARD:0007343|NCIT:C115326|DOID:0060067|OMIM:557000|Orphanet:699|ICD9:277.87	mondo.json	Pearson's marrow/pancreas syndrome|Pearson's syndrome|Pearson marrow-pancreas syndrome|sideroblastic Anemia with marrow cell vacuolization and exocrine pancreatic dysfunction|sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)	http://purl.obolibrary.org/obo/MONDO_0010797	http://identifiers.org/snomedct/237985009|https://omim.org/entry/557000|Orphanet:699|NCIT:C115326|UMLS:C0342784|DOID:0060067	gard_rare|ordo_disease
MONDO:0020105	biolink:Disease	obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies		Orphanet:98370	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020105	Orphanet:98370	ordo_group_of_disorders
MONDO:0019126	biolink:Disease	intractable diarrhea of infancy	Intractable diarrhoea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhoea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium.	Orphanet:73014	mondo.json	IDI	http://purl.obolibrary.org/obo/MONDO_0019126	Orphanet:73014	ordo_group_of_disorders|disease_grouping
HGNC:19899	biolink:NamedThing	ZFAT			mondo.json		http://identifiers.org/hgnc/19899		
MONDO:0019125	biolink:Disease	relapsing polychondritis	Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement.	ICD10CM:M94.1|GARD:0007417|MESH:D011081|MedDRA:10038304|UMLS:C0032453|DOID:2556|SCTID:72275000|ICD9:733.99|NCIT:C157268|Orphanet:728|EFO:1001148	mondo.json	chronic atrophic polychondritis|chondromalacia, systemic|recurrent polychondritis	http://purl.obolibrary.org/obo/MONDO_0019125	NCIT:C157268|http://identifiers.org/mesh/D011081|http://purl.bioontology.org/ontology/ICD10CM/M94.1|Orphanet:728|DOID:2556|http://identifiers.org/snomedct/72275000|UMLS:C0032453	gard_rare|ordo_disease
MONDO:0022768	biolink:Disease	chronic polyradiculoneuritis		GARD:0001355	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022768		gard_rare
MONDO:0019128	biolink:Disease	mullerian aplasia		Orphanet:73217|SCTID:253828000|MESH:C537371	mondo.json	Mullerian duct failure|aplasia of the Mullerian ducts|Müllerian duct failure|Müllerian aplasia|aplasia of the Müllerian ducts	http://purl.obolibrary.org/obo/MONDO_0019128	Orphanet:73217|http://identifiers.org/mesh/C537371|http://identifiers.org/snomedct/253828000	disease_grouping|ordo_group_of_disorders
MONDO:0022769	biolink:Disease	ciliary dyskinesia-bronchiectasis		GARD:0001362	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022769		gard_rare
MONDO:0019127	biolink:Disease	polymyositis	Polymyositis (PM) is a rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes.	MedDRA:10036102|Orphanet:732|ICD9:710.4|SCTID:31384009|UMLS:C0085655|EFO:0003063|GARD:0007425|Wikipedia:Polymyositis|NCIT:C26925|MESH:D017285|ICD10CM:M33.2	mondo.json	PM|polymyositis	http://purl.obolibrary.org/obo/MONDO_0019127	http://purl.bioontology.org/ontology/ICD10CM/M33.2|UMLS:C0085655|http://identifiers.org/snomedct/31384009|Orphanet:732|http://identifiers.org/mesh/D017285|NCIT:C26925	ordo_disease
MONDO:0019122	biolink:Disease	idiopathic acute eosinophilic pneumonia	Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection.	UMLS:C4518469|Orphanet:724|DOID:9503|SCTID:64936001|UMLS:CN227574|GARD:0000519|NCIT:C35301|GARD:0000107|UMLS:C0242459	mondo.json	Loffler's syndrome|Loeffler syndrome|Löffler syndrome|Loeffler's pneumonia|Loffler syndrome|pulmonary infiltrates with eosinophilia|IAEP	http://purl.obolibrary.org/obo/MONDO_0019122	Orphanet:724|DOID:9503|UMLS:C4518469|http://identifiers.org/snomedct/64936001|UMLS:C0242459|UMLS:CN227574|NCIT:C35301	gard_rare|ordo_disease
MONDO:0019121	biolink:Disease	pneumocystosis	Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole.	EFO:0007448|ICD10EXP:J17.3*|Orphanet:723|ICD10CM:B59|ICD9:136.3|GARD:0004386|SCTID:415125002|UMLS:C1535939|NCIT:C3334|ICD10EXP:B59+|MESH:D011020|DOID:11339	mondo.json	PCP|pulmonary pneumocystosis|Pneumocystis carinii pneumonia|pneumocystosis|Pneumocystis jirovecii pneumonia|PJP|Pneumocystis|pneumocystosis pneumonia|Pneumocystis pneumonia	http://purl.obolibrary.org/obo/MONDO_0019121	http://purl.bioontology.org/ontology/ICD10CM/B59|http://identifiers.org/mesh/D011020|Orphanet:723|DOID:11339|UMLS:C1535939|NCIT:C3334|http://identifiers.org/snomedct/415125002	gard_rare|ordo_disease
MONDO:0019124	biolink:Disease	microscopic polyangiitis	Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs.	NCIT:C70549|EFO:1000784|MESH:D055953|ICD10CM:M31.7|GARD:0003652|SCTID:239928004|Orphanet:727|UMLS:C2347126|MedDRA:10063344	mondo.json	MPA|microscopic polyarteritis|Micropolyangiitis	http://purl.obolibrary.org/obo/MONDO_0019124	http://identifiers.org/mesh/D055953|Orphanet:727|http://identifiers.org/snomedct/239928004|UMLS:C2347126|NCIT:C70549|http://purl.bioontology.org/ontology/ICD10CM/M31.7	ordo_disease|gard_rare
MONDO:0010790	biolink:Disease	MERRF syndrome	A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy.	OMIM:545000|MESH:D017243|DOID:310|ICD10CM:E88.42|GARD:0007144|MedDRA:10069825|Orphanet:551|UMLS:C0162672|SCTID:68448003|ICD9:277.87|NCIT:C84889	mondo.json	myoencephalopathy ragged-red fiber disease|myoclonic epilepsy associated with ragged-RED fibers|myoclonic epilepsy with ragged red fibers|Fukuhara syndrome|myoclonic epilepsy associated with ragged red fibers|MERRF syndrome|myoclonic epilepsy - ragged red fibers|MERRF|myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome)|myoclonus with epilepsy and with ragged Red fibers|myoclonus epilepsy associated with ragged-red fibres|myoclonus epilepsy and ragged red fibers	http://purl.obolibrary.org/obo/MONDO_0010790	NCIT:C84889|http://purl.bioontology.org/ontology/ICD10CM/E88.42|https://omim.org/entry/545000|DOID:310|http://identifiers.org/snomedct/68448003|UMLS:C0162672|Orphanet:551|http://identifiers.org/mesh/D017243	ordo_disease
MONDO:0019123	biolink:Disease	continuous spikes and waves during sleep	Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.	Orphanet:725|UMLS:CN205644|UMLS:C3806403|UMLS:CN181337	mondo.json	epileptic encephalopathy with continuous spike-and-wave during slow sleep|CSWS|continuous spikes and waves during slow-wave sleep|CSWSS syndrome	http://purl.obolibrary.org/obo/MONDO_0019123	Orphanet:725|UMLS:CN205644|UMLS:C3806403|UMLS:CN181337	ordo_disease
HGNC:17233	biolink:NamedThing	ELMO2			mondo.json		http://identifiers.org/hgnc/17233		
MONDO:0022760	biolink:Disease	chromosome 22q deletion		Orphanet:262182|GARD:0008668	mondo.json	partial monosomy 22q|22q monosomy|partial deletion of the long arm of chromosome type 22|partial monosomy of the long arm of chromosome 22|partial deletion of the long arm of chromosome 22|partial deletion of chromosome 22q|deletion 22q|partial monosomy of chromosome 22q|22q deletion|monosomy 22q	http://purl.obolibrary.org/obo/MONDO_0022760	Orphanet:262182	gard_rare|disease_grouping
NCBITaxon:40005	biolink:OrganismalEntity	Yellow fever virus group		GC_ID:1	mondo.json	Yellow fever viruses	http://purl.obolibrary.org/obo/NCBITaxon_40005		
MONDO:0022761	biolink:Disease	chromosome 3 duplication syndrome		MESH:C536803|UMLS:C2931333	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022761	UMLS:C2931333|http://identifiers.org/mesh/C536803	
MONDO:0022762	biolink:Disease	chromosome 4 short arm deletion		ICD10CM:Q93.3|Orphanet:261884|MESH:C537637|GARD:0006090	mondo.json	partial deletion of the short arm of chromosome 4|monosomy 4p|deletion 4p|partial monosomy of chromosome 4p|partial deletion of chromosome 4p|chromosome 4p deletion|partial deletion of the short arm of chromosome type 4|partial monosomy of the short arm of chromosome 4|4p deletion|partial monosomy 4p|4p monosomy	http://purl.obolibrary.org/obo/MONDO_0022762	http://purl.bioontology.org/ontology/ICD10CM/Q93.3|Orphanet:261884|http://identifiers.org/mesh/C537637	disease_grouping
NCIT:C36823	biolink:NamedThing	Neoplastic Spindle Cell			mondo.json		http://purl.obolibrary.org/obo/NCIT_C36823		
MONDO:0007128	biolink:Disease	annular erythema		UMLS:C0234906|OMIM:106500|MESH:C562461|SCTID:200920000	mondo.json	annular erythema	http://purl.obolibrary.org/obo/MONDO_0007128	http://identifiers.org/snomedct/200920000|https://omim.org/entry/106500|UMLS:C0234906|http://identifiers.org/mesh/C562461	
MONDO:0022765	biolink:Disease	chronic demyelinizing neuropathy with IgM monoclonal		GARD:0001352	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022765		gard_rare
MONDO:0007129	biolink:Disease	tooth agenesis, selective, 1	Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene.	OMIM:106600	mondo.json	tooth agenesis, selective, type 1|second premolars and third molars, absence of|tooth agenesis, selective, 1, with or without orofacial cleft|hypodontia/oligodontia 1|STHAG1|MSX1 tooth agenesis|tooth agenesis, selective, with orofacial cleft|tooth agenesis, selective, 1|tooth agenesis caused by mutation in MSX1|tooth agenesis, familial|hypodontia/oligodontia with orofacial cleft	http://purl.obolibrary.org/obo/MONDO_0007129	https://omim.org/entry/106600	
MONDO:0020104	biolink:Disease	obsolete rare constitutional hemolytic anemia due to an enzyme disorder		UMLS:CN227782|Orphanet:98369	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020104	UMLS:CN227782|Orphanet:98369	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0007126	biolink:Disease	spondyloarthropathy, susceptibility to, 1	Any spondyloarthropathy, susceptibility to in which the cause of the disease is a mutation in the HLA-B gene.	OMIM:106300|DOID:0080603	mondo.json	Marie-Strumpell spondylitis|Bechterew syndrome|spondyloarthropathy, susceptibility to, type 1|SPDA1|ankylosing spondylitis, susceptibility to|HLA-B spondyloarthropathy, susceptibility to|spondyloarthropathy, susceptibility to caused by mutation in HLA-B|susceptibility to spondyloarthropathy 1|spondyloarthropathy, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0007126	https://omim.org/entry/106300|DOID:0080603	predisposition
MONDO:0009789	biolink:Disease	nonarteritic anterior ischemic optic neuropathy, susceptibility to		OMIM:258660	mondo.json	Naion, susceptibility to|nonarteritic anterior ischemic optic neuropathy, susceptibility to|optic neuropathy, anterior ischemic, susceptibility to|susceptibility to nonarteritic anterior ischemic optic neuropathy	http://purl.obolibrary.org/obo/MONDO_0009789	https://omim.org/entry/258660	predisposition
MONDO:0010778	biolink:Disease	cyclic vomiting syndrome	A rare abnormality of the neuroendocrine system that is characterized by episodic nausea and vomiting.	GARD:0006230|OMIM:500007	mondo.json	CVS|Cvs-plus|cyclic vomiting syndrome|cyclic vomiting syndrome with neuromuscular disease|cyclic vomiting syndrome-plus	http://purl.obolibrary.org/obo/MONDO_0010778	https://omim.org/entry/500007	
MONDO:0007127	biolink:Disease	diffuse idiopathic skeletal hyperostosis	This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms.	NCIT:C84671|UMLS:C0020498|SCTID:31487001|GARD:0000842|Orphanet:2206|OMIM:106400|DOID:6652|EFO:0007236|ICD9:721.6|ICD9:733.99|MESH:D004057	mondo.json	disseminated idiopathic skeletal hyperostosis|ankylosing vertebral hyperostosis|diffuse idiopathic skeletal hyperostosis|Forestier disease|ankylosing vertebral hyperostosis with tylosis|dish|Forestier's disease	http://purl.obolibrary.org/obo/MONDO_0007127	Orphanet:2206|DOID:6652|https://omim.org/entry/106400|http://identifiers.org/snomedct/31487001|http://identifiers.org/mesh/D004057|NCIT:C84671|UMLS:C0020498	ordo_malformation_syndrome
MONDO:0020103	biolink:Disease	obsolete constitutional hemolytic anemia due to acanthocytosis		Orphanet:98366	mondo.json	constitutional hemolytic anemia due to acanthocytic disorder	http://purl.obolibrary.org/obo/MONDO_0020103	Orphanet:98366	ordo_group_of_disorders
MONDO:0010777	biolink:Disease	cardiomyopathy, infantile hypertrophic		DOID:0111753|UMLS:C2748884|OMIM:500006	mondo.json		http://purl.obolibrary.org/obo/MONDO_0010777	DOID:0111753|UMLS:C2748884|https://omim.org/entry/500006	
MONDO:0009788	biolink:Disease	optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive		UMLS:C1839566|OMIM:258650	mondo.json	optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009788	https://omim.org/entry/258650	
MONDO:0007124	biolink:Disease	ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.	MESH:C535847|SCTID:55821006|Orphanet:1071|DOID:0090119|OMIM:106260|GARD:0004805|GARD:0006571	mondo.json	Rapp-Hodgkins syndrome|Aec syndrome|ankyloblepharon-ectodermal defects-cleft lip and palate syndrome|AEC syndrome|ankyloblepharon ectodermal defects cleft lip/palate|Seres-Santamaria Arimany Muniz syndrome|cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects|ankyloblepharon-ectodermal defects-cleft LIP/palate|hay-Wells syndrome	http://purl.obolibrary.org/obo/MONDO_0007124	https://omim.org/entry/106260|Orphanet:1071|DOID:0090119|http://identifiers.org/mesh/C535847|http://identifiers.org/snomedct/55821006	ordo_malformation_syndrome|gard_rare
MONDO:0009787	biolink:Disease	3-methylglutaconic aciduria type 3	3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.	OMIM:258501|MESH:C535311|UMLS:C0574084|DOID:0110004|GARD:0005663|Orphanet:67047|SCTID:297232009	mondo.json	optic atrophy, infantile, with chorea and spastic paraplegia|MGA3|autosomal recessive optic atrophy plus syndrome|3-methylglutaconic aciduria caused by mutation in OPA3|3-methylglutaconic aciduria, type III|optic atrophy 3, autosomal recessive|3-methylglutaconic aciduria, type 3|Iraqi-Jewish optic atrophy plus|OPA3, autosomal recessive|MGA, type 3|Costeff syndrome|autosomal recessive optic atrophy type 3|3-methylglutaconic aciduria type III|OPA3 3-methylglutaconic aciduria|MGA type III|Iraqi-Jewish 'optic atrophy plus'|optic atrophy plus syndrome|Costeff optic atrophy syndrome|3-alpha methylglutaconic aciduria type III|Iraqi Jewish optic atrophy plus|MGCA3|optic atrophy infantile with chorea and spastic paraplegia|OPA3 defect|infantile optic atrophy with chorea and spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0009787	Orphanet:67047|DOID:0110004|http://identifiers.org/mesh/C535311|http://identifiers.org/snomedct/297232009|UMLS:C0574084|https://omim.org/entry/258501	ordo_disease
MONDO:0020102	biolink:Disease	hereditary stomatocytosis		SCTID:14087004|Orphanet:98365|UMLS:C1262483|ICD9:282.8	mondo.json	hereditary stomatocytic disease	http://purl.obolibrary.org/obo/MONDO_0020102	http://identifiers.org/snomedct/14087004|UMLS:C1262483|Orphanet:98365	ordo_group_of_disorders|disease_grouping
MONDO:0009786	biolink:Disease	optic atrophy 6		OMIM:258500|GARD:0010200|Orphanet:99012|MESH:C537127|DOID:0111435	mondo.json	optic atrophy 6|optic atrophy, congenital or early infantile, autosomal recessive|OPA6	http://purl.obolibrary.org/obo/MONDO_0009786	http://identifiers.org/mesh/C537127|DOID:0111435|https://omim.org/entry/258500	
MONDO:0010779	biolink:Disease	mitochondrial non-syndromic sensorineural hearing loss		GARD:0001709|DOID:0111751|Orphanet:90641|OMIM:500008	mondo.json	isolated mitochondrial neurosensory deafness|deafness, isolated, due to mitochondrial transmission|isolated mitochondrial sensorineural deafness|deafness, nonsyndromic sensorineural, mitochondrial|mitochondrial non-syndromic sensorineural deafness|mitochondrial non-syndromic neurosensory deafness	http://purl.obolibrary.org/obo/MONDO_0010779	https://omim.org/entry/500008|DOID:0111751|Orphanet:90641	ordo_etiological_subtype|gard_rare
MONDO:0007125	biolink:Disease	ankyloglossia	A developmental abnormality in which the bottom of the tongue is attached to the floor of the mouth.	SCTID:67787004|OMIM:106280|ICD9:750.0|MESH:C562396|MESH:D000072676|NCIT:C124538|ICD10CM:Q38.1|DOID:0060604	mondo.json	tongue-tie|FUSED to floor of mouth|ankyloglossia|'tongue-Tie'	http://purl.obolibrary.org/obo/MONDO_0007125	https://omim.org/entry/106280|http://identifiers.org/mesh/D000072676|http://purl.bioontology.org/ontology/ICD10CM/Q38.1|DOID:0060604|http://identifiers.org/mesh/C562396|http://identifiers.org/snomedct/67787004|NCIT:C124538	
MONDO:0020101	biolink:Disease	obsolete constitutional hemolytic anemia due to membrane defect	OBSOLETE. A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis.	NCIT:C101218|Orphanet:98364|UMLS:CN227780|SCTID:111575000	mondo.json	hemolytic anemia due to membrane defect|anemia due to membrane defect|rare constitutional hemolytic anemia due to a red cell membrane anomaly|hemolytic anemia due to erythrocyte membrane defect	http://purl.obolibrary.org/obo/MONDO_0020101	NCIT:C101218|UMLS:CN227780|Orphanet:98364|http://identifiers.org/snomedct/111575000	ordo_group_of_disorders
MONDO:0009785	biolink:Disease	opsismodysplasia	Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.	UMLS:C0432219|OMIM:258480|MESH:C537122|GARD:0004098|SCTID:254068007|Orphanet:2746	mondo.json	opsismodysplasia|OPSISMODYSPLASIA|OPSMD	http://purl.obolibrary.org/obo/MONDO_0009785	http://identifiers.org/mesh/C537122|Orphanet:2746|UMLS:C0432219|http://identifiers.org/snomedct/254068007|https://omim.org/entry/258480	ordo_disease|gard_rare
MONDO:0007122	biolink:Disease	anisocoria	Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (iris diseases) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease.	MESH:D015875|ICD9:379.41|SCTID:13045009|HP:0009916|OMIM:106240	mondo.json	anisocoria (disease)|anisocoria	http://purl.obolibrary.org/obo/MONDO_0007122	https://omim.org/entry/106240|http://identifiers.org/mesh/D015875|http://identifiers.org/snomedct/13045009	
MONDO:0020100	biolink:Disease	obsolete rare hemolytic anemia	OBSOLETE. Rare hemolytic anemia.	Orphanet:98363	mondo.json	rare hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0020100	Orphanet:98363	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0009784	biolink:Disease	ophthalmoplegic neuromuscular disorder with abnormal mitochondria		UMLS:C1850302|OMIM:258470|MESH:C564925	mondo.json	ophthalmoplegic neuromuscular disorder with abnormal mitochondria	http://purl.obolibrary.org/obo/MONDO_0009784	http://identifiers.org/mesh/C564925|https://omim.org/entry/258470|UMLS:C1850302	
MONDO:0007123	biolink:Disease	ankyloblepharon filiforme adnatum-cleft palate syndrome		SCTID:400952003|GARD:0000696|UMLS:C1302999|OMIM:106250|Orphanet:1072|MESH:C536373	mondo.json	ankyloblepharon filiforme adnatum and cleft palate|ankyloblepharon filiforme congenitum|ankyloblepharon filiforme adnatum|AFA|ankyloblepharon filiforme adnatum cleft palate|congenital filiform fusion of the eyelids with cleft palate and/or cleft lip	http://purl.obolibrary.org/obo/MONDO_0007123	https://omim.org/entry/106250|Orphanet:1072|http://identifiers.org/mesh/C536373|UMLS:C1302999|http://identifiers.org/snomedct/400952003	ordo_malformation_syndrome
MONDO:0007120	biolink:Disease	aniridia-absent patella syndrome	Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.	UMLS:C1862868|GARD:0000685|Orphanet:1069|OMIM:106220|MESH:C566281	mondo.json	familial syndrome of aniridia and absence of the patella|aniridia absent patella|aniridia and absent patella	http://purl.obolibrary.org/obo/MONDO_0007120	UMLS:C1862868|http://identifiers.org/mesh/C566281|https://omim.org/entry/106220|Orphanet:1069	ordo_malformation_syndrome|gard_rare
MONDO:0009783	biolink:Disease	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.	UMLS:C4225153|DOID:0111522|OMIM:258450|GARD:0001191	mondo.json	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 1|autosomal recessive progressive external ophthalmoplegia|cerebellar ataxia infantile with progressive external ophthalmoplegia|progressive external ophthalmoplegia with cerebellar ataxia infantile|POLG autosomal recessive progressive external ophthalmoplegia|PEOB1|arPEO|progressive external ophthalmoplegia, autosomal recessive 1|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|autosomal recessive progressive external ophthalmoplegia caused by mutation in POLG	http://purl.obolibrary.org/obo/MONDO_0009783	UMLS:C4225153|DOID:0111522|https://omim.org/entry/258450	
MONDO:0009782	biolink:Disease	ophthalmoplegia totalis with ptosis and miosis		OMIM:258400|UMLS:C1850314|MESH:C564927	mondo.json	ophthalmoplegia totalis with ptosis and miosis	http://purl.obolibrary.org/obo/MONDO_0009782	http://identifiers.org/mesh/C564927|https://omim.org/entry/258400|UMLS:C1850314	
MONDO:0007121	biolink:Disease	aniridia, microcornea, and spontaneously Reabsorbed cataract		OMIM:106230|UMLS:C1862867|MESH:C566280	mondo.json	aniridia, microcornea, and spontaneously Reabsorbed cataract	http://purl.obolibrary.org/obo/MONDO_0007121	UMLS:C1862867|http://identifiers.org/mesh/C566280|https://omim.org/entry/106230	
MONDO:0009781	biolink:Disease	Onychotrichodysplasia and neutropenia		MESH:C537752|OMIM:258360|GARD:0010161|Orphanet:2739|UMLS:C1850316	mondo.json	onycho-tricho-dysplasia-neutropenia syndrome|Onychotrichodysplasia and neutropenia	http://purl.obolibrary.org/obo/MONDO_0009781	http://identifiers.org/mesh/C537752|https://omim.org/entry/258360|UMLS:C1850316|Orphanet:2739	gard_rare
MONDO:0010781	biolink:Disease	ataxia and polyneuropathy, adult-onset		DOID:0111750|UMLS:C1838916|OMIM:500010|MESH:C564020	mondo.json		http://purl.obolibrary.org/obo/MONDO_0010781	https://omim.org/entry/500010|http://identifiers.org/mesh/C564020|DOID:0111750|UMLS:C1838916	
MONDO:0009780	biolink:Disease	lethal omphalocele-cleft palate syndrome	Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition.	Orphanet:2736|OMIM:258320|UMLS:C1850317|GARD:0004079|SCTID:719408007|MESH:C537747	mondo.json	cleft palate-omphalocele syndrome, lethal|omphalocele cleft palate syndrome lethal|omphalocele-cleft palate syndrome, lethal|Czeizel syndrome	http://purl.obolibrary.org/obo/MONDO_0009780	http://identifiers.org/mesh/C537747|http://identifiers.org/snomedct/719408007|https://omim.org/entry/258320|UMLS:C1850317|Orphanet:2736	gard_rare|ordo_malformation_syndrome
MONDO:0010780	biolink:Disease	mitochondrial myopathy with reversible cytochrome C oxidase deficiency		OMIM:500009|Orphanet:254864|UMLS:C3151898	mondo.json	MMIT|reversible infantile respiratory chain deficiency|reversible infantile cytochrome C oxidase deficiency|infantile reversible cytochrome C oxidase deficiency myopathy|Cox deficiency myopathy, infantile, transient|benign COX deficiency|mitochondrial myopathy with reversible COX deficiency|mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency|mitochondrial myopathy, infantile, transient|respiratory chain deficiency, infantile, transient|mitochondrial myopathy with reversible complex IV deficiency	http://purl.obolibrary.org/obo/MONDO_0010780	https://omim.org/entry/500009|UMLS:C3151898|Orphanet:254864	ordo_disease
MONDO:0010783	biolink:Disease	obsolete Alzheimer disease, susceptibility to, mitochondrial		OMIM:502500	mondo.json	Alzheimer disease, susceptibility to, mitochondrial	http://purl.obolibrary.org/obo/MONDO_0010783	https://omim.org/entry/502500	
MONDO:0010782	biolink:Disease	myopathy, lactic acidosis, and sideroblastic anemia 3		DOID:0111184|UMLS:C4225415|OMIM:500011	mondo.json	MLASA3|myopathy, lactic acidosis, and sideroblastic anemia 3|myopathy, lactic acidosis, and sideroblastic anemia type 3	http://purl.obolibrary.org/obo/MONDO_0010782	DOID:0111184|UMLS:C4225415|https://omim.org/entry/500011	
MONDO:0019119	biolink:Disease	muscular channelopathy	A channelopathy that involves the muscle tissue.	EFO:1001899|Orphanet:71864|Orphanet:98737	mondo.json	channelopathy of muscle tissue|muscle tissue channelopathy	http://purl.obolibrary.org/obo/MONDO_0019119	Orphanet:71864	disease_grouping|ordo_group_of_disorders
MONDO:0010785	biolink:Disease	maternally-inherited diabetes and deafness	Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.	GARD:0004003|ICD9:250.80|UMLS:C4330695|UMLS:C0342289|Orphanet:225|OMIM:520000|NCIT:C131859|SCTID:237619009|MESH:C536246	mondo.json	noninsulin-dependent diabetes mellitus with deafness|diabetes and deafness, maternally inherited|mitochondrial diabetes|MIDD|diabetes mellitus type II with deafness|diabetes mellitus, type II, with deafness|Ballinger Wallace syndrome|diabetes-deafness syndrome, maternally Transmitted|maternally inherited diabetes and deafness|Niddm with deafness|Ballinger-Wallace syndrome	http://purl.obolibrary.org/obo/MONDO_0010785	NCIT:C131859|UMLS:C4330695|http://identifiers.org/snomedct/237619009|https://omim.org/entry/520000|Orphanet:225|http://identifiers.org/mesh/C536246|UMLS:C0342289	ordo_disease|gard_rare
MONDO:0019118	biolink:Disease	inherited retinal dystrophy	An instance of retinal degeneration that is caused by an inherited modification of the individual's genome.	UMLS:C0854723|ICD10CM:H35.5|MedDRA:10038857|MESH:D058499|SCTID:41799005|SCTID:314407005|Orphanet:71862|ICD9:362.7|HP:0000556|ICD9:362.75|NCIT:C35194|ICD9:362.70|DOID:8501|ICD9:362.72|DOID:8500|NCIT:C35625|UMLS:C0154860	mondo.json	fundus dystrophy|familial retinal dystrophy|retinal dystrophy|hereditary retinal degeneration|hereditary retinal dystrophy|inherited retinal dystrophy|genetic retinal dystrophy	http://purl.obolibrary.org/obo/MONDO_0019118	NCIT:C35194|NCIT:C35625|UMLS:C0854723|Orphanet:71862|http://purl.bioontology.org/ontology/ICD10CM/H35.5|http://identifiers.org/snomedct/41799005|http://identifiers.org/mesh/D058499|UMLS:C0154860|DOID:8500|DOID:8501|http://identifiers.org/snomedct/314407005	disease_grouping|ordo_group_of_disorders
MONDO:0010784	biolink:Disease	chloramphenicol toxicity		OMIM:515000	mondo.json	anemia, chloramphenicol-induced|chloramphenicol resistance|chloramphenicol toxicity	http://purl.obolibrary.org/obo/MONDO_0010784	https://omim.org/entry/515000	
MONDO:0010787	biolink:Disease	Kearns-Sayre syndrome	Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.	Orphanet:480|SCTID:25792000|MedDRA:10048804|MESH:D007625|GARD:0006817|OMIM:530000|UMLS:C0022541|NCIT:C84798|DOID:12934	mondo.json	CPEO with ragged-Red fibers|ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy|CPEO with ragged red fibers|chronic progressive external ophthalmoplegia with myopathy|CPEO with myopathy|ophthalmoplegia, progressive external, with ragged-Red fibers|ophthalmoplegia plus syndrome|ophthalmoplegia, progressive external, with ragged red fibers|Kearns-Sayre syndrome|mitochondrial Cytopathy|KSS|oculocraniosomatic syndrome|ophthalmoplegia-plus syndrome	http://purl.obolibrary.org/obo/MONDO_0010787	http://identifiers.org/mesh/D007625|DOID:12934|UMLS:C0022541|NCIT:C84798|https://omim.org/entry/530000|Orphanet:480|http://identifiers.org/snomedct/25792000	gard_rare|ordo_disease
MONDO:0010786	biolink:Disease	chronic diarrhea with villous atrophy	Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insuficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994.	MESH:C564019|Orphanet:1670|ICD10CM:K59.1|UMLS:C1838912|OMIM:520100	mondo.json	diarrhea, chronic, with villous atrophy	http://purl.obolibrary.org/obo/MONDO_0010786	UMLS:C1838912|https://omim.org/entry/520100|Orphanet:1670|http://identifiers.org/mesh/C564019	ordo_disease
HGNC:19869	biolink:NamedThing	SCARF2			mondo.json		http://identifiers.org/hgnc/19869		
HGNC:17208	biolink:NamedThing	BICD2			mondo.json		http://identifiers.org/hgnc/17208		
MONDO:0022756	biolink:Disease	chromosome 1q deletion	Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	Orphanet:262001|UMLS:CN072190|GARD:0008669	mondo.json	partial deletion of the long arm of chromosome 1|partial monosomy 1q|monosomy 1q|partial deletion of chromosome 1q|partial deletion of the long arm of chromosome type 1|deletion 1q|partial monosomy of the long arm of chromosome 1|1q deletion|1q monosomy|partial monosomy of chromosome 1q	http://purl.obolibrary.org/obo/MONDO_0022756	Orphanet:262001|UMLS:CN072190	gard_rare|disease_grouping|ordo_group_of_disorders
MONDO:0019115	biolink:Disease	obesity due to melanocortin 4 receptor deficiency	Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.	UMLS:C4273958|NCIT:C120394|SCTID:717269008|Orphanet:71529	mondo.json	MC4R deficiency	http://purl.obolibrary.org/obo/MONDO_0019115	NCIT:C120394|http://identifiers.org/snomedct/717269008|UMLS:C4273958|Orphanet:71529	ordo_malformation_syndrome
MONDO:0022757	biolink:Disease	chromosome 20 trisomy	Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or allof of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester ofpregnancy. The presence of an extra copyof only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), life long constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization.	GARD:0005332|MESH:C535372|UMLS:C0265479|NCIT:C36397	mondo.json	mosaic trisomy 20|trisomy 20|trisomy chromosome 20|trisomy 20 mosaicism	http://purl.obolibrary.org/obo/MONDO_0022757	UMLS:C0265479|http://identifiers.org/mesh/C535372	gard_rare
MONDO:0019114	biolink:Disease	psychogenic movement disorders	Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype.	UMLS:C3267131|Orphanet:71519|MedDRA:10072376	mondo.json	psychogenic dystonia	http://purl.obolibrary.org/obo/MONDO_0019114	UMLS:C3267131|Orphanet:71519	ordo_clinical_syndrome
MONDO:0019117	biolink:Disease	obsolete genetic nervous system disorder	OBSOLETE. An instance of nervous system disease that is caused by a modification of the individual's genome.	Orphanet:71859|UMLS:CN205639	mondo.json	rare genetic neurological disorder|genetic nervous system disorder|genetic neurological disorder	http://purl.obolibrary.org/obo/MONDO_0019117	Orphanet:71859|UMLS:CN205639	disease_grouping|ordo_group_of_disorders
MONDO:0022758	biolink:Disease	chromosome 22, monosome mosaic		MESH:C536798|UMLS:CN036765	mondo.json	Mosaic monosome 22|chromosome 22 mosaic monosomy	http://purl.obolibrary.org/obo/MONDO_0022758	http://identifiers.org/mesh/C536798|UMLS:CN036765	
MONDO:0019116	biolink:Disease	obsolete catecholamine-producing tumor	OBSOLETE. Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas).	UMLS:CN205637|Orphanet:717	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019116	Orphanet:717|UMLS:CN205637	
MONDO:0022759	biolink:Disease	trisomy 22	Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR).	MESH:C536799|UMLS:C0265490|GARD:0005335|SCTID:205655003	mondo.json	chromosome 22 trisomy	http://purl.obolibrary.org/obo/MONDO_0022759	UMLS:C0265490|http://identifiers.org/mesh/C536799|http://identifiers.org/snomedct/205655003	gard_rare
MONDO:0019111	biolink:Disease	familial thrombocytosis	Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.	OMIM:187950|OMIM:601977|Orphanet:71493|OMIM:614521|SCTID:720950009|UMLS:CN205627|OMIMPS:187950	mondo.json	hereditary thrombocythemia|hereditary thrombocytosis|thrombocythemia|THCYT|hereditary thrombocytosis disease|familial thrombocythemia	http://purl.obolibrary.org/obo/MONDO_0019111	Orphanet:71493|http://identifiers.org/snomedct/720950009|https://omim.org/phenotypicSeries/PS187950|UMLS:CN205627	ordo_disease
MONDO:0019110	biolink:Disease	obsolete rare central nervous system or retinal vascular disease		Orphanet:71281|UMLS:CN205621	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019110	Orphanet:71281|UMLS:CN205621	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0019113	biolink:Disease	benign paroxysmal torticollis of infancy	Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterised by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children.	UMLS:CN205631|SCTID:719521002|Orphanet:71518	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019113	http://identifiers.org/snomedct/719521002|Orphanet:71518|UMLS:CN205631	ordo_disease
MONDO:0019112	biolink:Disease	cancer-associated retinopathy	Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins.	MESH:D059545|ICD9:362.10|SCTID:404663008|Orphanet:71505	mondo.json	CAR syndrome|paraneoplastic retinopathy	http://purl.obolibrary.org/obo/MONDO_0019112	http://identifiers.org/snomedct/404663008|Orphanet:71505|http://identifiers.org/mesh/D059545	ordo_disease
HGNC:20862	biolink:NamedThing	SLC39A8			mondo.json		http://identifiers.org/hgnc/20862		
MONDO:0022752	biolink:Disease	chromosome 16p13.3 deletion syndrome		UMLS:C3502510|MESH:C566433	mondo.json	Rubinstein-Taybi syndrome, Severe|RSTS, Severe	http://purl.obolibrary.org/obo/MONDO_0022752	UMLS:C3502510|http://identifiers.org/mesh/C566433	
MONDO:0007139	biolink:Disease	obsolete Antipyrine metabolism		OMIM:107290|UMLS:C1862824	mondo.json	antipyrine metabolism	http://purl.obolibrary.org/obo/MONDO_0007139	UMLS:C1862824|https://omim.org/entry/107290	
MONDO:0022754	biolink:Disease	chromosome 17p deletion	A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17.	UMLS:CN036220|Orphanet:261965|MESH:C538045|NCIT:C36499|GARD:0006075	mondo.json	17p- syndrome|partial deletion of chromosome 17p|interstitial deletion 17p|partial monosomy of the short arm of chromosome type 17|deletion 17p|partial monosomy of chromosome 17p|deletion 17p syndrome|loss of chromosome 17p|monosomy 17p|17p deletion|partial deletion of the short arm of chromosome 17|del(17p)|partial monosomy of the short arm of chromosome 17|chromosome 17p deletion syndrome|17p monosomy|chromosome 17p deletion|partial monosomy 17p	http://purl.obolibrary.org/obo/MONDO_0022754	UMLS:CN036220|http://identifiers.org/mesh/C538045|Orphanet:261965	ordo_group_of_disorders|disease_grouping
MONDO:0022755	biolink:Disease	chromosome 18 mosaic monosomy		UMLS:CN036727|MESH:C536581|GARD:0003726	mondo.json	Mosaic monosomy 18|monosomy 18 mosaicism|Mosaic monosomy chromosome 18	http://purl.obolibrary.org/obo/MONDO_0022755	http://identifiers.org/mesh/C536581|UMLS:CN036727	gard_rare
MONDO:0007137	biolink:Disease	isolated congenital anosmia	This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome.	MESH:C535983|OMIM:107200|SCTID:230502003|Orphanet:88620|GARD:0009486	mondo.json	ANIC|congenital anosmia|anosmia, isolated congenital|anosmia, congenital	http://purl.obolibrary.org/obo/MONDO_0007137	http://identifiers.org/mesh/C535983|http://identifiers.org/snomedct/230502003|https://omim.org/entry/107200|Orphanet:88620	ordo_disease
MONDO:0010767	biolink:Disease	spermatogenic failure, Y-linked, 2		DOID:0070187|MESH:C564030|OMIM:415000	mondo.json	spermatogenic failure, nonobstructive, Y-linked|spermatogenic failure, Y-linked, 2|oligospermia, nonobstructive, Y-linked|spermatogenic failure, Y-linked, 2, Y-linked|oligozoospermia, nonobstructive, Y-linked|Azf regions|azoospermia Factor regions|azoospermia, nonobstructive, Y-linked|SPGFY2|spermatogenic arrest, Y-linked|spermatogenic failure, Y-linked, type 2	http://purl.obolibrary.org/obo/MONDO_0010767	http://identifiers.org/mesh/C564030|https://omim.org/entry/415000|DOID:0070187	
GO:0042475	biolink:NamedThing	odontogenesis of dentin-containing tooth	The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel.		mondo.json	odontogeny|odontogenesis of dentine-containing teeth|odontogenesis of dentine-containing tooth|tooth development|odontosis	http://purl.obolibrary.org/obo/GO_0042475		
MONDO:0007138	biolink:Disease	anterior segment dysgenesis 1		OMIM:107250|UMLS:C1862839|DOID:0060605	mondo.json	ASGD1|anterior segment mesenchymal dysgenesis|anterior segment dysgenesis 1, multiple subtypes|anterior segment ocular dysgenesis|ASMD|anterior segment dysgenesis 1	http://purl.obolibrary.org/obo/MONDO_0007138	UMLS:C1862839|https://omim.org/entry/107250	
MONDO:0009799	biolink:Disease	obsolete pachydermoperiostosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009799		
MONDO:0010766	biolink:Disease	obsolete 46,XX sex reversal 1			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010766		
MONDO:0007135	biolink:Disease	nonsyndromic congenital nail disorder 6		GARD:0000710|UMLS:C1862840|Orphanet:90390|OMIM:107000|DOID:0080084	mondo.json	onychodystrophy-anonychia|anonychia, partial|anonychia/hyponychia and onychodystrophy|NDNC6|absent nails and dystrophic nails|nail disorder, nonsyndromic congenital, 6|nonsyndromic congenital nail disorder type 6	http://purl.obolibrary.org/obo/MONDO_0007135	DOID:0080084|https://omim.org/entry/107000	
MONDO:0010769	biolink:Disease	hairy ears, Y-linked		OMIM:425500|UMLS:C1839070|MESH:C564029	mondo.json	hypertrichosis pinnae auris, Y-linked|hairy ears, Y-linked, Y-linked|hairy ears, Y-linked	http://purl.obolibrary.org/obo/MONDO_0010769	UMLS:C1839070|http://identifiers.org/mesh/C564029|https://omim.org/entry/425500	
MONDO:0009798	biolink:Disease	intellectual disability-cataracts-calcified pinnae-myopathy syndrome	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.	GARD:0004488|Orphanet:3042|SCTID:726709001|MESH:C536420|UMLS:C0796121|OMIM:259050	mondo.json	PRIMS|primrose syndrome|ossified EAR cartilages with mental deficiency, muscle wasting, and BONY changes	http://purl.obolibrary.org/obo/MONDO_0009798	http://identifiers.org/mesh/C536420|http://identifiers.org/snomedct/726709001|https://omim.org/entry/259050|Orphanet:3042|UMLS:C0796121	ordo_malformation_syndrome
MONDO:0009797	biolink:Disease	orotic aciduria	An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.	GARD:0005429|Orphanet:30|SCTID:47641009|OMIM:258900|NCIT:C98944|MedDRA:10052621|DOID:0050833	mondo.json	orotic aciduria 1|OPRT and ODC deficiency|orotate phosphoribosyltransferase and OMP decarboxylase deficiency|orotic aciduria type 1|Umps deficiency|orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency|UMP synthtase deficiency|Ump synthase deficiency|oroticaciduria 1|orotic aciduria without megaloblastic Anemia|orotic aciduria II (formerly)|UMPS|orotic aciduria|uridine monophosphate synthase deficiency|uridine monophosphate synthetase deficiency|oroticaciduria|hereditary orotic aciduria|orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency|orotidylic decarboxylase deficiency	http://purl.obolibrary.org/obo/MONDO_0009797	http://identifiers.org/snomedct/47641009|DOID:0050833|NCIT:C98944|Orphanet:30|https://omim.org/entry/258900	ordo_disease
GO:0042476	biolink:NamedThing	odontogenesis	The process whose specific outcome is the progression of a tooth or teeth over time, from formation to the mature structure(s). A tooth is any hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food.		mondo.json	tooth development|odontosis|odontogenesis of calcareous or chitinous tooth|tooth morphogenesis|odontogeny	http://purl.obolibrary.org/obo/GO_0042476		
MONDO:0010768	biolink:Disease	gonadoblastoma	A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype.	ICDO:9073/1|DOID:3301|ONCOTREE:OGBL|UMLS:C0206661|NCIT:C3754|MESH:D018238	mondo.json	gonadoblastoma|gonad blastoma	http://purl.obolibrary.org/obo/MONDO_0010768	DOID:3301|UMLS:C0206661|http://identifiers.org/mesh/D018238|NCIT:C3754	ordo_disease
MONDO:0007136	biolink:Disease	genetic anorectal anomalies		OMIM:107100|MESH:C567938	mondo.json	anorectal anomalies	http://purl.obolibrary.org/obo/MONDO_0007136	http://identifiers.org/mesh/C567938|https://omim.org/entry/107100	prototype_pattern
MONDO:0007133	biolink:Disease	anonychia-onychodystrophy with brachydactyly type b and ectrodactyly		UMLS:C1862842|Orphanet:2355|MESH:C536379|OMIM:106990|GARD:0000711	mondo.json	Kumar-Levick syndrome|autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly|anonychia-onychodystrophy with brachydactyly type b and ectrodactyly	http://purl.obolibrary.org/obo/MONDO_0007133	UMLS:C1862842|https://omim.org/entry/106990|http://identifiers.org/mesh/C536379|Orphanet:2355	gard_rare
MONDO:0009796	biolink:Disease	ornithine aminotransferase deficiency	A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract.	UMLS:C0018425|Orphanet:414|MESH:D015799|GARD:0007272|GARD:0006556|OMIM:258870|NCIT:C84744|MESH:C538071|DOID:1415	mondo.json	gyrate atrophy of choroid and retina|Girate atrophy of the retina|hyperornithinemia|gyrate atrophy of choroid and retina with or without ornithinemia|Oat deficiency|hyperornithinemia with gyrate atrophy of choroid and retina|hoga|gyrate atrophy of the choroid and/or retina|ornithine Keto acid aminotransferase deficiency|ornithine ketoacid aminotransferase deficiency|gyrate atrophy of the retina|Ornithinemia|OKT deficiency|Ornithinemia with gyrate atrophy|Fuchs gyrate atrophy|Okt deficiency|Fuchs atrophia gyrata chorioideae et retinae|Fuchs gyrate atrophy of the choroid and retina|ornithine-Delta-aminotransferase deficiency|gyrate atrophy|ornithine aminotransferase deficiency|GACR|hyperornithinemia-gyrate atrophy of choroid and retina syndrome|OAT deficiency	http://purl.obolibrary.org/obo/MONDO_0009796	Orphanet:414|UMLS:C0018425|DOID:1415|NCIT:C84744|https://omim.org/entry/258870|http://identifiers.org/mesh/D015799	ordo_disease|gard_rare
MONDO:0009795	biolink:Disease	orofaciodigital syndrome IX	Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).	OMIM:258865|GARD:0010520|SCTID:718680001|DOID:0060382|MESH:C557818|Orphanet:141007|UMLS:C0796102	mondo.json	oral facial digital syndrome type 9|orofaciodigital syndrome type IX|oral-facial-digital syndrome type 9|OFD9|oral facial digital syndrome 9|orofaciodigital syndrome 9|orofaciodigital syndrome type 9|orofaciodigital syndrome with retinal abnormalities|orofaciodigital syndrome IX|oral-facial-digital syndrome with retinal abnormalities|oral-Facial-digital syndrome, type 9|OFD syndrome 9|oral-Facial-digital syndrome with retinal abnormalities|Ofds 9	http://purl.obolibrary.org/obo/MONDO_0009795	http://identifiers.org/snomedct/718680001|DOID:0060382|Orphanet:141007|http://identifiers.org/mesh/C557818|https://omim.org/entry/258865|UMLS:C0796102	gard_rare|ordo_malformation_syndrome
MONDO:0007134	biolink:Disease	Cooks syndrome	Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.	UMLS:C1862841|OMIM:106995|MESH:C537766|SCTID:720747002|Orphanet:1487|GARD:0004083	mondo.json	Cooks syndrome|anonychia-onychodystrophy with hypoplasia or absence of distal phalanges|anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome|anonychia and absence/hypoplasia of distal phalanges|ODP	http://purl.obolibrary.org/obo/MONDO_0007134	UMLS:C1862841|Orphanet:1487|http://identifiers.org/mesh/C537766|https://omim.org/entry/106995|http://identifiers.org/snomedct/720747002	ordo_malformation_syndrome
GO:0042470	biolink:NamedThing	melanosome	A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0042470		
MONDO:0009794	biolink:Disease	orofaciodigital syndrome IV	Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.	Orphanet:2753|OMIM:258860|UMLS:C0406727|DOID:0060374|SCTID:239031000|GARD:0000816|MESH:C537133	mondo.json	oral-facial-digital syndrome type 4|Ofd syndrome with tibial defects|orofaciodigital syndrome type IV|orofaciodigital syndrome with tibial dysplasia|orofaciodigital syndrome 4|oral facial digital syndrome 4|orofaciodigital syndrome IV|OFD syndrome 4|Ofd syndrome, Baraitser-Burn type|oral-Facial-digital syndrome, type 4|Baraitser-Burn syndrome|orofaciodigital syndrome type 4|OFD4|Ofds 4|oral facial digital syndrome type 4|Mohr-Majewski syndrome	http://purl.obolibrary.org/obo/MONDO_0009794	http://identifiers.org/snomedct/239031000|DOID:0060374|https://omim.org/entry/258860|http://identifiers.org/mesh/C537133|UMLS:C0406727|Orphanet:2753	ordo_malformation_syndrome|gard_rare
MONDO:0007131	biolink:Disease	anonychia with flexural pigmentation	Anonychia with flexural pigmentation is characterised by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant.	MESH:C566278|OMIM:106750|UMLS:C1862844|Orphanet:69125	mondo.json	anonychia with flexural pigmentation	http://purl.obolibrary.org/obo/MONDO_0007131	https://omim.org/entry/106750|Orphanet:69125|UMLS:C1862844|http://identifiers.org/mesh/C566278	ordo_malformation_syndrome
MONDO:0009793	biolink:Disease	orofaciodigital syndrome III	Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.	SCTID:239030004|OMIM:258850|Orphanet:2752|DOID:0060373|GARD:0010518|MESH:C557817	mondo.json	Ofds 3|oral facial digital syndrome type 3|oral-facial-digital syndrome type 3|oral facial digital syndrome 3|orofaciodigital syndrome 3|orofaciodigital syndrome III|orofaciodigital syndrome type 3|orofaciodigital syndrome type III|Sugarman syndrome|OFD syndrome 3|OFD3|oral-Facial-digital syndrome, type 3	http://purl.obolibrary.org/obo/MONDO_0009793	http://identifiers.org/snomedct/239030004|DOID:0060373|https://omim.org/entry/258850|http://identifiers.org/mesh/C557817|Orphanet:2752	ordo_malformation_syndrome|gard_rare
MONDO:0007132	biolink:Disease	anonychia-ectrodactyly		MESH:C566277|GARD:0000708|UMLS:C1862843|OMIM:106900	mondo.json	anonychia-ectrodactyly|anonychia ectrodactyly	http://purl.obolibrary.org/obo/MONDO_0007132	http://identifiers.org/mesh/C566277|https://omim.org/entry/106900|UMLS:C1862843	gard_rare
MONDO:0009792	biolink:Disease	ichthyosis-oral and digital anomalies syndrome	Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive.	GARD:0002960|UMLS:C1850268|MESH:C536272|OMIM:258840|Orphanet:2272	mondo.json	unusual facies, digital abnormalities, and ichthyosis|Clayton Smith-Donnai syndrome|ichthyosis tapered fingers midline groove up|oral and digital anomalies with ichthyosis	http://purl.obolibrary.org/obo/MONDO_0009792	https://omim.org/entry/258840|UMLS:C1850268|Orphanet:2272|http://identifiers.org/mesh/C536272	ordo_malformation_syndrome
MONDO:0010770	biolink:Disease	ubiquitin-activating enzyme, Y-linked		OMIM:489000	mondo.json	Ube1Y|ubiquitin-activating enzyme, Y-linked	http://purl.obolibrary.org/obo/MONDO_0010770	https://omim.org/entry/489000	
MONDO:0007130	biolink:Disease	congenital total pulmonary venous return anomaly	Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure.	UMLS:C0036400|SCTID:111323005|EFO:1001167|OMIM:106700|DOID:4297|NCIT:C85056|MESH:D012587|SCTID:39905002|ICD9:747.41|NCIT:C98585|Orphanet:99125	mondo.json	pulmonary venolobar syndrome|total anomalous pulmonary VENOUS return 1|scimitar syndrome|TAPVR1|scimitar anomaly|TAPVR|total anomalous pulmonary venous return|anomalous pulmonary Venous return	http://purl.obolibrary.org/obo/MONDO_0007130	DOID:4297|NCIT:C98585|Orphanet:99125|http://identifiers.org/snomedct/111323005|https://omim.org/entry/106700	ordo_morphological_anomaly
MONDO:0009791	biolink:Disease	oral sensibility, disturbance of		GARD:0009476|OMIM:258800	mondo.json	oral sensibility, disturbance of|disturbance of oral sensitivity|impairment of oral perception	http://purl.obolibrary.org/obo/MONDO_0009791	https://omim.org/entry/258800	other_hierarchy|gard_rare
MONDO:0010772	biolink:Disease	Leber optic atrophy and dystonia		DOID:0111755|MESH:C536024|UMLS:C1839040|GARD:0008476|OMIM:500001	mondo.json	Leber's hereditary optic neuropathy with dystonia|LHON and dystonia|Leber hereditary optic neuropathy with dystonia|dystonia familial, with visual failure and striatal lucencies|dystonia, familial, with visual failure and striatal lucencies|LDYT|Marsden syndrome|Leber optic atrophy and dystonia|Leber Hereditary optic neuropathy with dystonia	http://purl.obolibrary.org/obo/MONDO_0010772	http://identifiers.org/mesh/C536024|UMLS:C1839040|https://omim.org/entry/500001|DOID:0111755	
MONDO:0009790	biolink:Disease	Opticocochleodentate degeneration		UMLS:C0520711|SCTID:77553008|OMIM:258700|ICD9:333.90|MESH:C563002	mondo.json	Opticocochleodentate degeneration	http://purl.obolibrary.org/obo/MONDO_0009790	http://identifiers.org/mesh/C563002|http://identifiers.org/snomedct/77553008|https://omim.org/entry/258700|UMLS:C0520711	
MONDO:0010771	biolink:Disease	histiocytoid cardiomyopathy	Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.	MESH:C535584|OMIM:500000|GARD:0009511|NCIT:C45745|UMLS:C1708371|UMLS:CN239812|Orphanet:137675|DOID:0080198	mondo.json	Purkinje cell hamartoma|cardiomyopathy, oncocytic|cardiomyopathy, infantile xanthomatous|myocardial hamartoma|infantile cardiomyopathy with histiocytoid change|congenital cardiomyopathy|histiocytoid cardiomyopathy|infantile xanthomatous cardiomyopathy|isolated Cardiac lipidosis|focal lipid cardiomyopathy|cardiomyopathy, focal Lipid|oncocytic cardiomyopathy|Arachnocytosis of the myocardium|foamy myocardial transformation of infancy|infantile histiocytoid cardiomyopathy|cardiomyopathy, infantile histiocytoid	http://purl.obolibrary.org/obo/MONDO_0010771	NCIT:C45745|Orphanet:137675|DOID:0080198|UMLS:C1708371|UMLS:CN239812|https://omim.org/entry/500000|http://identifiers.org/mesh/C535584	ordo_disease|gard_rare
MONDO:0019108	biolink:Disease	silent sinus syndrome	Silent sinus syndrome is characterised by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls.	UMLS:C3698095|SCTID:699802009|ICD9:478.19|Orphanet:71276	mondo.json	Imploding antrum syndrome	http://purl.obolibrary.org/obo/MONDO_0019108	http://identifiers.org/snomedct/699802009|Orphanet:71276|UMLS:C3698095	ordo_disease
MONDO:0010774	biolink:Disease	striatonigral degeneration, infantile, mitochondrial		UMLS:C1839022|MESH:C564025|OMIM:500003	mondo.json	bilateral striatal Necrosis, infantile, mitochondrial|infantile bilateral striatal Necrosis, mitochondrial|striatonigral degeneration, infantile, mitochondrial	http://purl.obolibrary.org/obo/MONDO_0010774	UMLS:C1839022|https://omim.org/entry/500003|http://identifiers.org/mesh/C564025	
MONDO:0019107	biolink:Disease	Rh deficiency syndrome	The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia.	UMLS:C1849387|OMIM:268150|UMLS:C0272052|DOID:0050641|Orphanet:71275|SCTID:37272000|MESH:C562717|GARD:0012916	mondo.json	Rh-null disease|Rh-null hemolytic Anemia, regulator type|Rh-null disease, regulator type|RH-null, regulator type|Rh-null syndrome|Rh deficiency syndrome|RHNR|anemia, hemolytic, Rh-null, regulator type|RHN|Rh-Mod	http://purl.obolibrary.org/obo/MONDO_0019107	https://omim.org/entry/268150|http://identifiers.org/snomedct/37272000|DOID:0050641|Orphanet:71275|UMLS:C1849387|http://identifiers.org/mesh/C562717|UMLS:C0272052	gard_rare|ordo_disease
MONDO:0010773	biolink:Disease	myopathy and diabetes mellitus		GARD:0003881|UMLS:C1839028|Orphanet:2596|MESH:C564026|OMIM:500002	mondo.json	mitochondrial myopathy with diabetes|mitochondrial myopathy, lipid type	http://purl.obolibrary.org/obo/MONDO_0010773	Orphanet:2596|UMLS:C1839028|https://omim.org/entry/500002|http://identifiers.org/mesh/C564026	ordo_disease
MONDO:0010776	biolink:Disease	hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial		UMLS:C1839021|OMIM:500005|MESH:C564024	mondo.json	hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial	http://purl.obolibrary.org/obo/MONDO_0010776	UMLS:C1839021|https://omim.org/entry/500005|http://identifiers.org/mesh/C564024	
MONDO:0019109	biolink:Disease	CANOMAD syndrome	CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy.	MESH:C537980|SCTID:715624006|Orphanet:71279|UMLS:C2931684|GARD:0009778	mondo.json	chronic ataxic neuropathy ophthalmoplegia M-protein agglutination disialosyl antibodies syndrome|chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome|chronic sensory ataxic neuropathy with anti-dyalosyl IgM antibodies|chronic sensory ataxic neuropathy with anti-disialosyl antibodies	http://purl.obolibrary.org/obo/MONDO_0019109	UMLS:C2931684|http://identifiers.org/snomedct/715624006|http://identifiers.org/mesh/C537980|Orphanet:71279	gard_rare|ordo_disease
MONDO:0010775	biolink:Disease	retinitis pigmentosa-deafness syndrome	An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome.	OMIM:500004|GARD:0004684|UMLS:C1568248|UMLS:CN033130|DOID:0110829|ICD10CM:H35.5|Orphanet:231183|SCTID:57838006	mondo.json	RP21, formerly|RP8, formerly|retinitis pigmentosa-deafness syndrome|retinitis pigmentosa 8, formerly|retinitis pigmentosa 8|retinitis pigmentosa 21, formerly|retinitis pigmentosa 21	http://purl.obolibrary.org/obo/MONDO_0010775	DOID:0110829|UMLS:CN033130|http://identifiers.org/snomedct/57838006|https://omim.org/entry/500004	
MONDO:0019104	biolink:Disease	Sandifer syndrome	Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.	GARD:0009684|UMLS:C0338465|NCIT:C113397|SCTID:230314007|MedDRA:10066142|MESH:C537234|Orphanet:71272	mondo.json	Sandifer's syndrome	http://purl.obolibrary.org/obo/MONDO_0019104	http://identifiers.org/mesh/C537234|UMLS:C0338465|Orphanet:71272|NCIT:C113397|http://identifiers.org/snomedct/230314007	gard_rare|ordo_disease
MONDO:0022745	biolink:Disease	mixed dust pneumoconiosis		SCTID:32139003|ICD9:504|GARD:0008374|UMLS:C0264436	mondo.json	mixed dust pneumoconiosis|Mixed dust pneumoconiosis|labrador lung	http://purl.obolibrary.org/obo/MONDO_0022745	UMLS:C0264436|http://identifiers.org/snomedct/32139003	gard_rare
HGNC:19877	biolink:NamedThing	GALNT12			mondo.json		http://identifiers.org/hgnc/19877		
HGNC:17213	biolink:NamedThing	COLEC11			mondo.json		http://identifiers.org/hgnc/17213		
MONDO:0022746	biolink:Disease	chromosome 13p duplication		UMLS:CN037021|MESH:C535450	mondo.json	trisomy 13p|Duplication 13p|chromosome 13p, trisomy	http://purl.obolibrary.org/obo/MONDO_0022746	http://identifiers.org/mesh/C535450|UMLS:CN037021	
MONDO:0019103	biolink:Disease	benign exophthalmos syndrome	Benign exophthalmos syndrome is characterised by slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions.	Orphanet:71269|SCTID:719519007|UMLS:C4304668	mondo.json	bes	http://purl.obolibrary.org/obo/MONDO_0019103	http://identifiers.org/snomedct/719519007|UMLS:C4304668|Orphanet:71269	ordo_disease
HGNC:20856	biolink:NamedThing	THAP1			mondo.json		http://identifiers.org/hgnc/20856		
MONDO:0019106	biolink:Disease	obsolete disseminated peritoneal leiomyomatosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019106		
MONDO:0019105	biolink:Disease	renal nutcracker syndrome	A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices.	MESH:D059228|UMLS:C3178770|GARD:0011971|SCTID:717267005|Orphanet:71273|EFO:1001838	mondo.json	left renal vein entrapment syndrome|RNS|nutcracker syndrome	http://purl.obolibrary.org/obo/MONDO_0019105	UMLS:C3178770|Orphanet:71273|http://identifiers.org/snomedct/717267005|http://identifiers.org/mesh/D059228	ordo_disease
HGNC:20858	biolink:NamedThing	SLC39A14			mondo.json		http://identifiers.org/hgnc/20858		
MONDO:0019100	biolink:Disease	neuromyelitis optica	Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.	EFO:0004256|DOID:8869|MESH:D009471|NCIT:C84934|SCTID:25044007|ICD9:341.0|Orphanet:71211|MedDRA:10029322|GARD:0006267|UMLS:C0027873	mondo.json	Devic's neuromyelitis optica|Devic's disease|NMO|Devic's syndrome|Devic syndrome|Devic disease	http://purl.obolibrary.org/obo/MONDO_0019100	UMLS:C0027873|http://identifiers.org/mesh/D009471|Orphanet:71211|http://identifiers.org/snomedct/25044007|NCIT:C84934|DOID:8869	ordo_disease|gard_rare
MONDO:0022749	biolink:Disease	non-neoplastic nevus	A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth.	ICD9:448.1|NCIT:C3937|SCTID:195381005|UMLS:C0265027	mondo.json	Non-Neoplastic Nevus|Non-neoplastic nevus|non-neoplastic nevus	http://purl.obolibrary.org/obo/MONDO_0022749	UMLS:C0265027|http://identifiers.org/snomedct/195381005|NCIT:C3937	
HGNC:17210	biolink:NamedThing	DHX37			mondo.json		http://identifiers.org/hgnc/17210		
HGNC:20859	biolink:NamedThing	SLC39A13			mondo.json		http://identifiers.org/hgnc/20859		
MONDO:0019102	biolink:Disease	dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome	Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is characterised by the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphology, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive.	Orphanet:71267|SCTID:721089006|UMLS:CN205609	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019102	Orphanet:71267|UMLS:CN205609|http://identifiers.org/snomedct/721089006	ordo_malformation_syndrome
MONDO:0019101	biolink:Disease	retinal capillary malformation	Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.	Orphanet:71213|UMLS:C0730304	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019101	Orphanet:71213	ordo_disease
MONDO:0009808	biolink:Disease	osteoid osteoma	A small, benign, bone-forming neoplasm that can arise from any bone but more frequently affects the long bones. The central portion of the neoplasm (nidus) contains differentiated osteoblasts which produce osteoid and sometimes bone. The lesion is usually surrounded by hypervascular sclerotic bone and has limited growth potential. Clinical signs and symptoms include pain and localized tenderness, at the site of the lesion. The pain may be intense but in the majority of cases it is completely alleviated by non-steroidal anti-inflammatory drugs. Prognosis is excellent and recurrences are rare.	MESH:D010017|ICDO:9191/0|NCIT:C3297|HP:0030433|UMLS:C0029441|SCTID:302859004|OMIM:259550	mondo.json	osteoid osteoma|osteoid osteoma (disease)	http://purl.obolibrary.org/obo/MONDO_0009808	UMLS:C0029441|NCIT:C3297|http://identifiers.org/snomedct/302859004|http://identifiers.org/mesh/D010017|https://omim.org/entry/259550	
MONDO:0009807	biolink:Disease	osteosarcoma	A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs.	EFO:0000637|HP:0002669|ONCOTREE:OS|DOID:3347|NCIT:C9145|ICDO:9180/3	mondo.json	bone tissue neoplasm|osteosarcoma (disease)|osteosarcoma, malignant|sarcoma of osteoid|osteoid sarcoma|osteosarcoma|osteogenic sarcoma	http://purl.obolibrary.org/obo/MONDO_0009807	NCIT:C9145|DOID:3347	
MONDO:0009806	biolink:Disease	Bruck syndrome 1	Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene.	GARD:0001029|UMLS:C1850168|OMIM:259450	mondo.json	Bruck syndrome caused by mutation in FKBP10|Kuskokwim disease|Bruck syndrome 1|arthrogryposis-like disorder|FKBP10 Bruck syndrome|Bruck syndrome type 1|BRKS1	http://purl.obolibrary.org/obo/MONDO_0009806	UMLS:C1850168|https://omim.org/entry/259450	
MONDO:0009805	biolink:Disease	osteogenesis imperfecta type 9	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene.	Orphanet:216804|MESH:C564921|Orphanet:216812|OMIM:259440|Orphanet:216820|DOID:0110349|GARD:0010619	mondo.json	osteogenesis imperfecta caused by mutation in PPIB|osteogenesis imperfecta sillence type II/III without abnormality of type I collagen|OI9|OI 9|PPIB osteogenesis imperfecta|osteogenesis imperfecta type IX|OI, type 9|osteogenesis imperfecta, type IX|osteogenesis imperfecta, type 9|OI type IX|osteogenesis imperfecta type 9	http://purl.obolibrary.org/obo/MONDO_0009805	DOID:0110349|http://identifiers.org/mesh/C564921|https://omim.org/entry/259440	
MONDO:0009804	biolink:Disease	osteogenesis imperfecta type 3	Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI).	GARD:0008695|OMIM:614856|OMIM:616229|NCIT:C99002|UMLS:C0268362|OMIM:613982|OMIM:610682|OMIM:259440|OMIM:259420|DOID:0110339|OMIM:610915|OMIM:610968|OMIM:615220|Orphanet:216812|OMIM:613848|SCTID:385483009|MESH:C536044	mondo.json	progressively deforming OI|osteogenesis imperfecta, progressively deforming with normal sclerae|osteogenesis imperfecta type III|progressively deforming osteogenesis imperfecta with normal sclera|osteogenesis imperfecta, type 3|OI, type 3|osteogenesis imperfecta type 3|Oi3|OI type 3|progressive deforming osteogenesis imperfecta|osteogenesis imperfecta, progressively deforming, with normal sclerae|severe osteogenesis imperfecta|osteogenesis imperfecta, type III|OI type III|OI3	http://purl.obolibrary.org/obo/MONDO_0009804	UMLS:C0268362|Orphanet:216812|http://identifiers.org/mesh/C536044|NCIT:C99002|DOID:0110339|https://omim.org/entry/259420|http://identifiers.org/snomedct/385483009	ordo_clinical_subtype
MONDO:0009803	biolink:Disease	congenital osteogenesis imperfecta-microcephaly-cataracts syndrome	Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterised by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive.	UMLS:C1850184|OMIM:259410|MESH:C537558|ICD10CM:Q78.0|Orphanet:2772	mondo.json	osteogenesis imperfecta congenita, microcephaly, and cataracts	http://purl.obolibrary.org/obo/MONDO_0009803	UMLS:C1850184|Orphanet:2772|http://identifiers.org/mesh/C537558|https://omim.org/entry/259410	ordo_malformation_syndrome
MONDO:0009802	biolink:Disease	osteodysplasty, precocious, of Danks, Mayne, and Kozlowski		UMLS:C1850185|OMIM:259270|MESH:C564922|GARD:0008662	mondo.json	osteodysplasty, precocious, of Danks, Mayne, and Kozlowski|Danks Mayne Kozlowski precocious osteodysplasty|osteodysplasty precocious of Danks Mayne and Kozlowski	http://purl.obolibrary.org/obo/MONDO_0009802	http://identifiers.org/mesh/C564922|https://omim.org/entry/259270|UMLS:C1850185	gard_rare
MONDO:0009801	biolink:Disease	familial osteodysplasia, Anderson type	Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.	UMLS:C1850186|GARD:0004136|OMIM:259250|MESH:C564923|Orphanet:2769	mondo.json	osteodysplasia familial Anderson type|osteodysplasia, familial, Anderson type	http://purl.obolibrary.org/obo/MONDO_0009801	Orphanet:2769|https://omim.org/entry/259250|http://identifiers.org/mesh/C564923|UMLS:C1850186	ordo_malformation_syndrome|gard_rare
MONDO:0009800	biolink:Disease	Blount disease, adolescent		UMLS:C3151572|OMIM:259200	mondo.json	Blount disease, adolescent|tibia vara, adolescent|Osteochondrosis deformans tibiae, adolescent	http://purl.obolibrary.org/obo/MONDO_0009800	UMLS:C3151572|https://omim.org/entry/259200	
HGNC:4847	biolink:NamedThing	HCRT			mondo.json		http://identifiers.org/hgnc/4847		
NCBITaxon:198624	biolink:OrganismalEntity	Dermocystida		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_198624		
HP:0002135	biolink:PhenotypicFeature	Basal ganglia calcification	The presence of calcium deposition affecting one or more structures of the basal ganglia.	UMLS:C1389280	mondo.json	Calcification of the basal ganglia|Basal ganglia calcifications|Basal ganglion calcification	http://purl.obolibrary.org/obo/HP_0002135		
HGNC:4851	biolink:NamedThing	HTT			mondo.json		http://identifiers.org/hgnc/4851		
HP:0002134	biolink:PhenotypicFeature	Abnormality of the basal ganglia	Abnormality of the basal ganglia.	UMLS:C0004782|SNOMEDCT_US:70835005|MSH:D001480	mondo.json	Anomaly of the basal ganglia|Basal ganglia disease	http://purl.obolibrary.org/obo/HP_0002134		
UBERON:0006440	biolink:AnatomicalEntity	os clitoris			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006440		
HGNC:19967	biolink:NamedThing	CCDC88C			mondo.json		http://identifiers.org/hgnc/19967		
HGNC:4855	biolink:NamedThing	HDC			mondo.json		http://identifiers.org/hgnc/4855		
NCBITaxon:186634	biolink:OrganismalEntity	Otomorpha		GC_ID:1	mondo.json	Otocephala|Ostarioclupeomorpha	http://purl.obolibrary.org/obo/NCBITaxon_186634		
CHEBI:18237	biolink:ChemicalSubstance	glutamic acid	An alpha-amino acid that is glutaric acid bearing a single amino substituent at position 2.		mondo.json	Glutaminsaeure|E|Glutamate|Glu|DL-Glutamic acid|Glutaminic acid|2-Aminoglutaric acid|DL-Glutaminic acid|glutamic acid|2-aminopentanedioic acid|Glutamic acid	http://purl.obolibrary.org/obo/CHEBI_18237		
HGNC:19963	biolink:NamedThing	TTLL5			mondo.json		http://identifiers.org/hgnc/19963		
HGNC:32940	biolink:NamedThing	NKX2-6			mondo.json		http://identifiers.org/hgnc/32940		
HGNC:19960	biolink:NamedThing	KIAA0586			mondo.json		http://identifiers.org/hgnc/19960		
UBERON:0006444	biolink:AnatomicalEntity	annulus fibrosus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006444		
MONDO:0009819	biolink:Disease	obsolete idiopathic juvenile osteoporosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009819		
MONDO:0009818	biolink:Disease	autosomal recessive osteopetrosis 3	Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.	SCTID:254122007|NCIT:C118438|OMIM:259730|DOID:0110941|MESH:C536058|ICD9:588.89|GARD:0004154|Orphanet:2785	mondo.json	carbonic anhydrase 2 deficiency|osteopetrosis, autosomal recessive 3|autosomal recessive osteopetrosis type 3|CA2 osteopetrosis (disease)|autosomal recessive osteopetrosis 3 with renal tubular acidosis|Autosomal Recessive osteopetrosis, type 3|Guibaud-Vainsel syndrome|renal tubular acidosis type 3|mixed renal tubular acidosis|osteopetrosis autosomal recessive 3|Guibaud Vainsel syndrome|osteopetrosis (disease) caused by mutation in CA2|osteopetrosis, autosomal recessive 3, with renal tubular acidosis|osteopetrosis, autosomal recessive type 3|OPTB3|osteopetrosis with renal tubular acidosis|marble brain disease|mixed RTA|carbonic anhydrase II deficiency	http://purl.obolibrary.org/obo/MONDO_0009818	NCIT:C118438|Orphanet:2785|http://identifiers.org/mesh/C536058|http://identifiers.org/snomedct/254122007|DOID:0110941|https://omim.org/entry/259730	ordo_disease|gard_rare
MONDO:0009817	biolink:Disease	autosomal recessive osteopetrosis 5	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene.	DOID:0110939|MESH:C566883|OMIM:259720|GARD:0004153	mondo.json	osteopetrosis, autosomal recessive 5|OPTB5|OSTM1 osteopetrosis (disease)|osteopetrosis, infantile malignant 3|autosomal recessive osteopetrosis type 5|infantile malignant osteopetrosis 3|autosomal recessive osteopetrosis 5|osteopetrosis autosomal recessive 5|osteopetrosis (disease) caused by mutation in OSTM1|osteopetrosis, autosomal recessive type 5|osteopetrosis infantile malignant 3	http://purl.obolibrary.org/obo/MONDO_0009817	http://identifiers.org/mesh/C566883|DOID:0110939|https://omim.org/entry/259720	gard_rare
MONDO:0009816	biolink:Disease	autosomal recessive osteopetrosis 2	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene.	OMIM:259710|DOID:0110943|MESH:C536059|GARD:0004157	mondo.json	osteopetrosis, autosomal recessive 2|autosomal recessive osteopetrosis caused by mutation in TNFSF11|autosomal recessive malignant osteopetrosis caused by mutation in TNFSF11|OPTB2|TNFSF11 autosomal recessive osteopetrosis|osteoclast-poor osteopetrosis|TNFSF11 autosomal recessive malignant osteopetrosis|osteopetrosis autosomal recessive 2|mild autosomal recessive form osteopetrosis|osteopetrosis, autosomal recessive type 2|osteopetrosis osteoclast-poor|osteopetrosis, mild autosomal recessive form|autosomal recessive osteopetrosis type 2|osteopetrosis, osteoclast-poor	http://purl.obolibrary.org/obo/MONDO_0009816	http://identifiers.org/mesh/C536059|DOID:0110943|https://omim.org/entry/259710	gard_rare
NCBITaxon:6447	biolink:OrganismalEntity	Mollusca		GC_ID:1	mondo.json	molluscs|mollusks|molluscs	http://purl.obolibrary.org/obo/NCBITaxon_6447		
MONDO:0009815	biolink:Disease	autosomal recessive osteopetrosis 1	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene.	GARD:0002579|DOID:0110942|MESH:C564915|OMIM:259700	mondo.json	marble bones, autosomal recessive|autosomal recessive osteopetrosis type 1|Albers-Schonberg disease, autosomal recessive|marble bones autosomal recessive|osteopetrosis autosomal recessive 1|osteopetrosis, infantile malignant 1|autosomal recessive malignant osteopetrosis caused by mutation in TCIRG1|osteopetrosis, autosomal recessive 1|autosomal recessive osteopetrosis caused by mutation in TCIRG1|TCIRG1 autosomal recessive osteopetrosis|osteopetrosis infantile malignant 1|autosomal recessive Albers-Schonberg disease|TCIRG1 autosomal recessive malignant osteopetrosis|autosomal recessive osteopetrosis 1|OPTB1|infantile malignant osteopetrosis 1|osteopetrosis, autosomal recessive type 1	http://purl.obolibrary.org/obo/MONDO_0009815	DOID:0110942|http://identifiers.org/mesh/C564915|https://omim.org/entry/259700	gard_rare
HGNC:32925	biolink:NamedThing	ATXN8			mondo.json		http://identifiers.org/hgnc/32925		
MONDO:0009814	biolink:Disease	osteopenia-intellectual disability-sparse hair syndrome	Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.	MESH:C537706|Orphanet:2324|SCTID:732954002|GARD:0000354|OMIM:259690|UMLS:C1850140	mondo.json	Kaler Garrity Stern syndrome|osteopenia mental retardation sparse hair|Kaler-Garrity-Stern syndrome|osteopenia intellectual disability sparse hair|osteopenia and sparse hair	http://purl.obolibrary.org/obo/MONDO_0009814	Orphanet:2324|http://identifiers.org/mesh/C537706|http://identifiers.org/snomedct/732954002|https://omim.org/entry/259690|UMLS:C1850140	ordo_malformation_syndrome
NCBITaxon:6448	biolink:OrganismalEntity	Gastropoda		GC_ID:1	mondo.json	gastropods|gastropods	http://purl.obolibrary.org/obo/NCBITaxon_6448		
MONDO:0009813	biolink:Disease	chronic recurrent multifocal osteomyelitis	Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.	DOID:0060645|UMLS:C0410422|GARD:0006108|MESH:C535456|Orphanet:324964|HP:0002754|OMIM:259680|NCIT:C119042|SCTID:240151005	mondo.json	chronic recurrent multifocal osteomyelitis|NBO|chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis|chronic multifocal osteomyelitis|CMO|non-bacterial osteomyelitis|multifocal osteomyelitis, chronic|chronic recurrent multifocal osteomyelitis (disease)|CRMO|CNO/CRMO|osteomyelitis, chronic multifocal	http://purl.obolibrary.org/obo/MONDO_0009813	UMLS:C0410422|http://identifiers.org/mesh/C535456|DOID:0060645|https://omim.org/entry/259680|NCIT:C119042|http://identifiers.org/snomedct/240151005|Orphanet:324964	ordo_disease
MONDO:0009812	biolink:Disease	obsolete osteomalacia, sclerosing, with cerebral calcification			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009812		
CHEBI:33888	biolink:ChemicalSubstance	cobalt molecular entity			mondo.json	cobalt molecular entities|cobalt compounds|cobalt molecular entity	http://purl.obolibrary.org/obo/CHEBI_33888		
MONDO:0009811	biolink:Disease	osteoma of middle ear		OMIM:259650|MESH:C564917|UMLS:C1850142	mondo.json	osteoma of middle ear	http://purl.obolibrary.org/obo/MONDO_0009811	http://identifiers.org/mesh/C564917|https://omim.org/entry/259650|UMLS:C1850142	
MONDO:0009810	biolink:Disease	autosomal recessive distal osteolysis syndrome	Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.	UMLS:C1850143|OMIM:259610|SCTID:715487005|GARD:0004299|Orphanet:2776|GARD:0004144|UMLS:C4275111|MESH:C536052	mondo.json	osteolysis, distal, with short stature, intellectual disability, and characteristic facial appearance|Petit-Fryns syndrome|osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance|osteolysis syndrome recessive|osteolysis syndrome, recessive|osteolysis, distal, with short stature, intellectual disability, and characteristic Facial appearance|osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance|distal osteolysis-short stature-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0009810	http://identifiers.org/mesh/C536052|Orphanet:2776|http://identifiers.org/snomedct/715487005|https://omim.org/entry/259610|UMLS:C4275111|UMLS:C1850143	ordo_malformation_syndrome|gard_rare
UBERON:0018415	biolink:AnatomicalEntity	ethmoid foramen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018415		
UBERON:0018413	biolink:AnatomicalEntity	facial nerve canal			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018413		
HGNC:4861	biolink:NamedThing	HELLS			mondo.json		http://identifiers.org/hgnc/4861		
HP:0002145	biolink:PhenotypicFeature	Frontotemporal dementia	A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.	MSH:D057180|UMLS:C0338451|SNOMEDCT_US:230270009	mondo.json		http://purl.obolibrary.org/obo/HP_0002145		
HP:0002148	biolink:PhenotypicFeature	Hypophosphatemia	An abnormally decreased phosphate concentration in the blood.	UMLS:C0085682|MSH:D017674|SNOMEDCT_US:4996001	mondo.json	Low blood phosphate level|Hypophosphataemia	http://purl.obolibrary.org/obo/HP_0002148		
HP:0002149	biolink:PhenotypicFeature	Hyperuricemia	An abnormally high level of uric acid in the blood.	UMLS:C0740394|MSH:D033461|SNOMEDCT_US:35885006	mondo.json	High blood uric acid level|Hyperuricaemia	http://purl.obolibrary.org/obo/HP_0002149		
HGNC:17318	biolink:NamedThing	RXFP2			mondo.json		http://identifiers.org/hgnc/17318		
HGNC:4867	biolink:NamedThing	HERC1			mondo.json		http://identifiers.org/hgnc/4867		
NCBITaxon:186623	biolink:OrganismalEntity	Actinopteri		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_186623		
HGNC:2205	biolink:NamedThing	CERT1			mondo.json		http://identifiers.org/hgnc/2205		
HGNC:2204	biolink:NamedThing	COL4A3			mondo.json		http://identifiers.org/hgnc/2204		
HGNC:19977	biolink:NamedThing	RDH12			mondo.json		http://identifiers.org/hgnc/19977		
NCBITaxon:186625	biolink:OrganismalEntity	Clupeocephala		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_186625		
HGNC:2203	biolink:NamedThing	COL4A2			mondo.json		http://identifiers.org/hgnc/2203		
HGNC:2202	biolink:NamedThing	COL4A1			mondo.json		http://identifiers.org/hgnc/2202		
NCBITaxon:186627	biolink:OrganismalEntity	Cypriniphysae		GC_ID:1	mondo.json	Cypriniphysi	http://purl.obolibrary.org/obo/NCBITaxon_186627		
HGNC:2201	biolink:NamedThing	COL3A1			mondo.json		http://identifiers.org/hgnc/2201		
HP:0002143	biolink:PhenotypicFeature	Abnormality of the spinal cord	An abnormality of the spinal cord (myelon).	UMLS:C0037928|MSH:D013118|UMLS:C4025722|SNOMEDCT_US:48522003	mondo.json	Spinal cord disease|Spinal cord pathology|Abnormality of the spinal cord	http://purl.obolibrary.org/obo/HP_0002143		
NCBITaxon:186626	biolink:OrganismalEntity	Otophysi		GC_ID:1	mondo.json	Otophysa	http://purl.obolibrary.org/obo/NCBITaxon_186626		
HGNC:2200	biolink:NamedThing	COL2A1			mondo.json		http://identifiers.org/hgnc/2200		
UBERON:0006435	biolink:AnatomicalEntity	os penis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006435		
HP:0002140	biolink:PhenotypicFeature	Ischemic stroke	Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured.	UMLS:C0948008|SNOMEDCT_US:422504002	mondo.json	Ischaemic stroke	http://purl.obolibrary.org/obo/HP_0002140		
MONDO:0009809	biolink:Disease	multicentric osteolysis, nodulosis, and arthropathy	A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy.	NCIT:C123437|OMIM:259600	mondo.json	Torg-Winchester syndrome, formerly|Al-Aqeel Sewairi syndrome|Torg-Winchester syndrome|Torg syndrome|mona|multicentric osteolysis, nodulosis, and arthropathy|nodulosis-arthropathy-osteolysis syndrome|osteolysis, hereditary multicentric|NAO syndrome	http://purl.obolibrary.org/obo/MONDO_0009809	https://omim.org/entry/259600|NCIT:C123437	
HGNC:2209	biolink:NamedThing	COL5A1			mondo.json		http://identifiers.org/hgnc/2209		
HGNC:2208	biolink:NamedThing	COL4A6			mondo.json		http://identifiers.org/hgnc/2208		
HGNC:2207	biolink:NamedThing	COL4A5			mondo.json		http://identifiers.org/hgnc/2207		
NCIT:C36745	biolink:NamedThing	Abnormal Epithelial Cell			mondo.json		http://purl.obolibrary.org/obo/NCIT_C36745		
HGNC:2206	biolink:NamedThing	COL4A4			mondo.json		http://identifiers.org/hgnc/2206		
HGNC:4868	biolink:NamedThing	HERC2			mondo.json		http://identifiers.org/hgnc/4868		
CHEBI:33856	biolink:ChemicalSubstance	aromatic amino acid	An amino acid whose structure includes an aromatic ring.		mondo.json	aromatic amino acids|Aromatic amino acid	http://purl.obolibrary.org/obo/CHEBI_33856		
UBERON:0018408	biolink:AnatomicalEntity	infra-orbital nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018408		
HP:0002119	biolink:PhenotypicFeature	Ventriculomegaly	An increase in size of the ventricular system of the brain.	UMLS:C3278923	mondo.json	Enlarged ventricular system|Cerebral ventricular dilatation|Dilated cerebral ventricles|Ventricular dilatation|Dilated ventricles|Dilated cerebral ventricle|Enlarged cerebral ventricles|Large cerebral ventricles and cisternae|Enlarged ventricles	http://purl.obolibrary.org/obo/HP_0002119		
CHEBI:33859	biolink:ChemicalSubstance	aromatic carboxylic acid	Any carboxylic acid in which the carboxy group is directly bonded to an aromatic ring.		mondo.json	aromatic carboxylic acids	http://purl.obolibrary.org/obo/CHEBI_33859		
HP:0002113	biolink:PhenotypicFeature	Pulmonary infiltrates		UMLS:C0235896	mondo.json	Pulmonic infiltration|Lung infiltrates	http://purl.obolibrary.org/obo/HP_0002113		
HP:0002118	biolink:PhenotypicFeature	Abnormal cerebral ventricle morphology	Any structural abnormality of the cerebral ventricles.	UMLS:C4025724	mondo.json	Abnormality of the cerebral ventricles	http://purl.obolibrary.org/obo/HP_0002118		
CHEBI:33853	biolink:ChemicalSubstance	phenols	Organic aromatic compounds having one or more hydroxy groups attached to a benzene or other arene ring.		mondo.json	Aryl alcohol|a phenol|arenols|phenols	http://purl.obolibrary.org/obo/CHEBI_33853		
CHR:9606-chr4p16.3	biolink:NamedThing	4p16.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr4p16.3		
HGNC:4877	biolink:NamedThing	HESX1			mondo.json		http://identifiers.org/hgnc/4877		
HGNC:4878	biolink:NamedThing	HEXA			mondo.json		http://identifiers.org/hgnc/4878		
NCBITaxon:39054	biolink:OrganismalEntity	Enterovirus A71		GC_ID:1	mondo.json	EV71|Human enterovirus A71|EV-71|Enterovirus EV-A71|Human enterovirus 71|enterovirus type 71|EV-A71|Enterovirus 71|Human enterovirus type 71	http://purl.obolibrary.org/obo/NCBITaxon_39054		
HGNC:2216	biolink:NamedThing	COL8A2			mondo.json		http://identifiers.org/hgnc/2216		
NCIT:C36753	biolink:NamedThing	Neoplastic Epithelial Cell			mondo.json		http://purl.obolibrary.org/obo/NCIT_C36753		
HGNC:2214	biolink:NamedThing	COL7A1			mondo.json		http://identifiers.org/hgnc/2214		
HGNC:2213	biolink:NamedThing	COL6A3			mondo.json		http://identifiers.org/hgnc/2213		
HGNC:2212	biolink:NamedThing	COL6A2			mondo.json		http://identifiers.org/hgnc/2212		
HP:0002110	biolink:PhenotypicFeature	Bronchiectasis	Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.	UMLS:C0006267|MSH:D001987|SNOMEDCT_US:12295008	mondo.json	Permanent enlargement of the airways of the lungs	http://purl.obolibrary.org/obo/HP_0002110		
HGNC:2211	biolink:NamedThing	COL6A1			mondo.json		http://identifiers.org/hgnc/2211		
HGNC:2210	biolink:NamedThing	COL5A2			mondo.json		http://identifiers.org/hgnc/2210		
NCBITaxon:1903411	biolink:OrganismalEntity	Yersiniaceae		PMID:27620848|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1903411		
HGNC:2219	biolink:NamedThing	COL9A3			mondo.json		http://identifiers.org/hgnc/2219		
HGNC:2218	biolink:NamedThing	COL9A2			mondo.json		http://identifiers.org/hgnc/2218		
NCBITaxon:1903414	biolink:OrganismalEntity	Morganellaceae		PMID:27620848|GC_ID:11	mondo.json	Morganellaceae Adeolu et al. 2016	http://purl.obolibrary.org/obo/NCBITaxon_1903414		
HGNC:2217	biolink:NamedThing	COL9A1			mondo.json		http://identifiers.org/hgnc/2217		
HGNC:4879	biolink:NamedThing	HEXB			mondo.json		http://identifiers.org/hgnc/4879		
NCBITaxon:1903410	biolink:OrganismalEntity	Pectobacteriaceae		PMID:27620848|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1903410		
HGNC:4883	biolink:NamedThing	CFH			mondo.json		http://identifiers.org/hgnc/4883		
CHEBI:33860	biolink:ChemicalSubstance	aromatic amine	An amino compound in which the amino group is linked directly to an aromatic system.		mondo.json	aryl amines|aryl amine|arylamines|aromatic amines|arylamine	http://purl.obolibrary.org/obo/CHEBI_33860		
CHEBI:33861	biolink:ChemicalSubstance	transition element coordination entity			mondo.json	transition metal coordination compounds|transition element coordination entities|transition metal coordination entities	http://purl.obolibrary.org/obo/CHEBI_33861		
HGNC:4886	biolink:NamedThing	HFE			mondo.json		http://identifiers.org/hgnc/4886		
HGNC:4887	biolink:NamedThing	HJV			mondo.json		http://identifiers.org/hgnc/4887		
HP:0004789	biolink:PhenotypicFeature	Lactose intolerance	An inability to digest lactose.	SNOMEDCT_US:267425008|UMLS:C0022951|MSH:D007787|SNOMEDCT_US:700094005	mondo.json	Lactose intolerance|Milk intolerance	http://purl.obolibrary.org/obo/HP_0004789		
HGNC:4888	biolink:NamedThing	CFHR1			mondo.json		http://identifiers.org/hgnc/4888		
HGNC:19957	biolink:NamedThing	TECPR2			mondo.json		http://identifiers.org/hgnc/19957		
HGNC:19954	biolink:NamedThing	SLC25A22			mondo.json		http://identifiers.org/hgnc/19954		
HGNC:2227	biolink:NamedThing	COMP			mondo.json		http://identifiers.org/hgnc/2227		
CHEBI:18248	biolink:ChemicalSubstance	iron atom	An iron group element atom that has atomic number 26.		mondo.json	26Fe|fer|Fe|iron|hierro|iron|Iron|Eisen|ferrum	http://purl.obolibrary.org/obo/CHEBI_18248		
HGNC:2226	biolink:NamedThing	COLQ			mondo.json		http://identifiers.org/hgnc/2226		
HP:0100716	biolink:PhenotypicFeature	Self-injurious behavior	Aggression towards oneself.	SNOMEDCT_US:248062006|UMLS:C0085271|MSH:D016728	mondo.json	Autoagression|Self-injurious behaviours|Self injury|Self-injurious behaviour|Self-harm|Self-injurious behavior|Self-injurious behaviors	http://purl.obolibrary.org/obo/HP_0100716		
HP:0002121	biolink:PhenotypicFeature	Generalized non-motor (absence) seizure	A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.	SNOMEDCT_US:230413002|MSH:D004832|SNOMEDCT_US:432241000124101|SNOMEDCT_US:79631006|SNOMEDCT_US:50866000|UMLS:C0014553	mondo.json	Petit mal seizure|Brief seizures with staring spells|Absence seizures|Absence seizure|Petit mal|Petit mal seizures|Generalised non-motor (absence) seizure|Generalised non-motor seizure	http://purl.obolibrary.org/obo/HP_0002121		
HGNC:2220	biolink:NamedThing	COLEC10			mondo.json		http://identifiers.org/hgnc/2220		
NCBITaxon:644710	biolink:OrganismalEntity	Anisakis simplex complex		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_644710		
MONDO:0009849	biolink:Disease	hyperimmunoglobulinemia D with periodic fever	Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).	GARD:0002788|UMLS:C0398691|OMIM:260920|Orphanet:343	mondo.json	periodic fever, Dutch type|HIDS|hyperimmunoglobinemia D with recurrent fever|periodic fever Dutch type|hyper-IgD syndrome|hyper IgD syndrome|hyperimmunoglobulinemia D and periodic fever syndrome|hyperimmunoglobulinemia D syndrome|partial mevalonate kinase deficiency	http://purl.obolibrary.org/obo/MONDO_0009849	https://omim.org/entry/260920|UMLS:C0398691|Orphanet:343	ordo_disease
MONDO:0009848	biolink:Disease	dissecting cellulitis of the scalp	Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia.	MedDRA:10056961|MESH:C562486|ICD9:704.8|OMIM:260910|GARD:0001883|SCTID:77333008|UMLS:C0263506|Orphanet:345	mondo.json	dissecting cellulitis of the scalp|perifolliculitis capitis ABSCEDENS ET SUFFODIENS, familial	http://purl.obolibrary.org/obo/MONDO_0009848	Orphanet:345|http://identifiers.org/snomedct/77333008|UMLS:C0263506|http://identifiers.org/mesh/C562486|https://omim.org/entry/260910	ordo_disease|gard_rare
MONDO:0009847	biolink:Disease	pericardial effusion, chronic	Chronic form of pericardial effusion (disease).	OMIM:260900|UMLS:C1850039|MESH:C564895	mondo.json	chronic pericardial effusion (disease)|cholesterol pericarditis|pericardial effusion (disease), chronic|pericardial effusion, chronic	http://purl.obolibrary.org/obo/MONDO_0009847	http://identifiers.org/mesh/C564895|UMLS:C1850039|https://omim.org/entry/260900	
MONDO:0009846	biolink:Disease	pentosuria	Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.	OMIM:260800|Orphanet:2843|MESH:C536652|MedDRA:10064170|DOID:0111258|GARD:0000418|SCTID:190764000|ICD9:271.8|UMLS:C0268162	mondo.json	essential pentosuria|PNTSU|pentosuria|xylitol dehydrogenase deficiency|L-xylulose reductase deficiency|L-Xylulosuria	http://purl.obolibrary.org/obo/MONDO_0009846	DOID:0111258|http://identifiers.org/mesh/C536652|UMLS:C0268162|http://identifiers.org/snomedct/190764000|Orphanet:2843|https://omim.org/entry/260800	gard_rare|mostly_harmless|ordo_disease
MONDO:0022820	biolink:Disease	congenital articular rigidity		GARD:0001473	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022820		gard_rare
MONDO:0009845	biolink:Disease	pelviscapular dysplasia	Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.	MESH:C535550|UMLS:C1850040|OMIM:260660|SCTID:719299009|Orphanet:93333|GARD:0001555	mondo.json	craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature|Cousin syndrome|pelviscapular dysplasia|familial pelvis-scapular dysplasia|COUSIN syndrome|craniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short stature	http://purl.obolibrary.org/obo/MONDO_0009845	http://identifiers.org/snomedct/719299009|http://identifiers.org/mesh/C535550|Orphanet:93333|UMLS:C1850040|https://omim.org/entry/260660	ordo_malformation_syndrome
MONDO:0022821	biolink:Disease	congenital benign spinal muscular atrophy dominant		GARD:0001474	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022821		gard_rare
HGNC:2228	biolink:NamedThing	COMT			mondo.json		http://identifiers.org/hgnc/2228		
MONDO:0010833	biolink:Disease	Hirschsprung disease, susceptibility to, 2	Any Hirschsprung disease in which the cause of the disease is a mutation in the EDNRB gene.	GARD:0002698|OMIM:600155	mondo.json	EDNRB Hirschsprung disease|Hirschsprung disease type 2|susceptibility to Hirschsprung disease 2|Hirschsprung disease, susceptibility to, 2|Hirschsprung disease caused by mutation in EDNRB|Hirschsprung disease, susceptibility to, type 2|HSCR2	http://purl.obolibrary.org/obo/MONDO_0010833	https://omim.org/entry/600155	predisposition
MONDO:0009844	biolink:Disease	pellagra-like syndrome		UMLS:C1850052|GARD:0004267|Orphanet:2837|OMIM:260650|MESH:C538352	mondo.json	pellagra-like syndrome|pellagra-like skin rash-neurological manifestations syndrome|pellagra-like rash with neurologic manifestations|pellagra like syndrome	http://purl.obolibrary.org/obo/MONDO_0009844	UMLS:C1850052|http://identifiers.org/mesh/C538352|https://omim.org/entry/260650	gard_rare
CHEBI:33833	biolink:ChemicalSubstance	heteroarene	A heterocyclic compound formally derived from an arene by replacement of one or more methine (-C=) and/or vinylene (-CH=CH-) groups by trivalent or divalent heteroatoms, respectively, in such a way as to maintain the continuous pi-electron system characteristic of aromatic systems and a number of out-of-plane pi-electrons corresponding to the Hueckel rule (4n+2).		mondo.json	hetarenes|heteroarenes	http://purl.obolibrary.org/obo/CHEBI_33833		
MONDO:0010832	biolink:Disease	Bardet-Biedl syndrome 3		OMIM:600151|OMIM:209900|GARD:0000822|UMLS:C1859564|MESH:C537911|DOID:0110125	mondo.json	Bardet-Biedl syndrome type 3|Bardet-Biedl syndrome 3|BBS3	http://purl.obolibrary.org/obo/MONDO_0010832	https://omim.org/entry/600151|UMLS:C1859564|http://identifiers.org/mesh/C537911|DOID:0110125	gard_rare
MONDO:0009843	biolink:Disease	hypomyelinating leukodystrophy 3	Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene.	GARD:0004266|DOID:0060790|UMLS:C1850053|OMIM:260600|MESH:C536319|Orphanet:280293	mondo.json	leukodystrophy caused by mutation in AIMP1|hypomyelinating leukodystrophy 3|Pelizaeus-Merzbacher-like disease due to AIMP1 mutation|leukodystrophy, hypomyelinating, type 3|hypomyelinating leukodystrophy type 3|perinatal Sudanophilic leukodystrophy|leukodystrophy, hypomyelinating 3|AIMP1 leukodystrophy|HLD3|leukodystrophy, hypomyelinating, 3	http://purl.obolibrary.org/obo/MONDO_0009843	Orphanet:280293|DOID:0060790|UMLS:C1850053|https://omim.org/entry/260600|http://identifiers.org/mesh/C536319	ordo_clinical_subtype|gard_rare
UBERON:2002067	biolink:AnatomicalEntity	upper hypural set			mondo.json		http://purl.obolibrary.org/obo/UBERON_2002067		
MONDO:0010835	biolink:Disease	pterygium colli-intellectual disability-digital anomalies syndrome	Pterygium colli-intellectual disability-digital anomalies syndrome is characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.	UMLS:C1838562|OMIM:600159|MESH:C535831|GARD:0004568|SCTID:719256004|Orphanet:2988	mondo.json	khalifa-Graham syndrome|pterygium colli mental retardation digital anomalies|pterygium colli and intellectual disability with facial and digital anomalies|pterygium colli intellectual disability digital anomalies|pterygium colli and mental retardation with facial and digital anomalies	http://purl.obolibrary.org/obo/MONDO_0010835	https://omim.org/entry/600159|Orphanet:2988|http://identifiers.org/snomedct/719256004|UMLS:C1838562|http://identifiers.org/mesh/C535831	ordo_malformation_syndrome
MONDO:0009842	biolink:Disease	Pelger-Huet-like anomaly and episodic fever with abdominal pain	An autoinflammatory disease with defective neutrophil function caused by a homozygous Arg219His mutation in the transcription factor C/EBPε.	MESH:C564899|OMIM:260570|UMLS:C1850054	mondo.json	Pelger-Huet-like anomaly and episodic fever with abdominal pain|immunodeficiency 108 with autoinflammation	http://purl.obolibrary.org/obo/MONDO_0009842	http://identifiers.org/mesh/C564899|UMLS:C1850054|https://omim.org/entry/260570	
MONDO:0010834	biolink:Disease	hirschsprung disease, susceptibility to, 5		OMIM:600156	mondo.json	HSCR5|Hirschsprung disease, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0010834	https://omim.org/entry/600156	predisposition
MONDO:0009841	biolink:Disease	PEHO syndrome	PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.	OMIM:260565|UMLS:C1850055|DOID:0080539|GARD:0004264|Orphanet:2836|MESH:C536317	mondo.json	progressive encephalopathy with edema, hypsarrhythmia and optic atrophy|peho|infantile Cerebellooptic atrophy|peho syndrome|peho-like syndrome|progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy|progressive encephalopathy-optic atrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0009841	UMLS:C1850055|https://omim.org/entry/260565|Orphanet:2836|DOID:0080539|http://identifiers.org/mesh/C536317	ordo_disease|gard_rare
CHEBI:33836	biolink:ChemicalSubstance	benzenoid aromatic compound			mondo.json	benzenoid aromatic compounds|benzenoid compound	http://purl.obolibrary.org/obo/CHEBI_33836		
MONDO:0010837	biolink:Disease	primary hyperparathyroidism	Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones.	GARD:0008612|DOID:11202|NCIT:C48280|Orphanet:99878|SCTID:36348003|ICD9:252.01|EFO:0008519|HP:0008200|MESH:D049950	mondo.json	primary hyperparathyroidism|primary hyperparathyroidism (disease)	http://purl.obolibrary.org/obo/MONDO_0010837	DOID:11202|http://identifiers.org/snomedct/36348003|NCIT:C48280|http://identifiers.org/mesh/D049950	
CHEBI:33837	biolink:ChemicalSubstance	conjugated protein	Conjugated protein is a protein that contains a non-peptide component, usually in stoichiometric proportion.		mondo.json	complex protein|conjugated proteins	http://purl.obolibrary.org/obo/CHEBI_33837		
MONDO:0009840	biolink:Disease	Partington-Anderson syndrome		OMIM:260555|MESH:C536299|UMLS:C1850075|Orphanet:2829|UMLS:CN202825	mondo.json	Partington-Anderson syndrome	http://purl.obolibrary.org/obo/MONDO_0009840	UMLS:C1850075|UMLS:CN202825|https://omim.org/entry/260555|http://identifiers.org/mesh/C536299	
MONDO:0010836	biolink:Disease	nanophthalmos 1		UMLS:C1838502|MESH:C563983|OMIM:600165	mondo.json	NNO1|nanophthalmos, autosomal dominant|Nanophthalmia 1|nanophthalmos-1|nanophthalmos with high hyperopia and angle-closure glaucoma|nanophthalmos 1|microphthalmos, simple, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0010836	https://omim.org/entry/600165|http://identifiers.org/mesh/C563983|UMLS:C1838502	
CHEBI:33839	biolink:ChemicalSubstance	macromolecule	A macromolecule is a molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass.		mondo.json	polymer molecule|macromolecule|polymers|macromolecules|polymer	http://purl.obolibrary.org/obo/CHEBI_33839		
MONDO:0010839	biolink:Disease	autosomal dominant congenital benign spinal muscular atrophy	Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated.	OMIM:600175|DOID:0111215|SCTID:763067000|Orphanet:1216|MESH:C563981|UMLS:C1838492	mondo.json	autosomal dominant benign distal spinal muscular atrophy|neuronopathy, distal hereditary motor, type VIII|spinal muscular atrophy, distal, congenital nonprogressive|congenital nonprogressive spinal muscular atrophy|spinal muscular atrophy, congenital benign, with contractures|congenital benign spinal muscular atrophy with contractures|neuronopathy, distal hereditary motor, type 8|neuropathy, distal hereditary motor, type 8|HMN8	http://purl.obolibrary.org/obo/MONDO_0010839	http://identifiers.org/mesh/C563981|https://omim.org/entry/600175|http://identifiers.org/snomedct/763067000|Orphanet:1216|DOID:0111215|UMLS:C1838492	ordo_disease
UBERON:2002068	biolink:AnatomicalEntity	lower hypural set			mondo.json		http://purl.obolibrary.org/obo/UBERON_2002068		
MONDO:0010838	biolink:Disease	gonadal agenesis	A congenital disorder characterized by the complete absence of gonadal tissue.	OMIM:600171|NCIT:C27228	mondo.json	gonadal agenesis	http://purl.obolibrary.org/obo/MONDO_0010838	https://omim.org/entry/600171|NCIT:C27228	
MONDO:0022819	biolink:Disease	congenital arteriovenous shunt		GARD:0006150	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022819		gard_rare
HGNC:2230	biolink:NamedThing	COPA			mondo.json		http://identifiers.org/hgnc/2230		
HGNC:4893	biolink:NamedThing	HGF			mondo.json		http://identifiers.org/hgnc/4893		
MONDO:0010840	biolink:Disease	pachygyria-intellectual disability-epilepsy syndrome	A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.	SCTID:763861000|Orphanet:2798|MESH:C538091|OMIM:600176|GARD:0000409|UMLS:C1838491	mondo.json	pachygyria with mental retardation and seizures|pachygyria with intellectual disability and seizures|Kuzniecky syndrome|pachygyria, intellectual disability and epilepsy|pachygyria with mental retardation, seizures, and arachnoid cysts|pachygyria with intellectual disability, seizures, and arachnoid cysts|pachygyria, mental retardation and epilepsy	http://purl.obolibrary.org/obo/MONDO_0010840	http://identifiers.org/mesh/C538091|Orphanet:2798|UMLS:C1838491|http://identifiers.org/snomedct/763861000|https://omim.org/entry/600176	ordo_malformation_syndrome
MONDO:0010842	biolink:Disease	multiple cutaneous and mucosal venous malformations	Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa.	MESH:C563977|OMIM:600195|Orphanet:2451|DOID:0050792|SCTID:699301008	mondo.json	cutaneous and mucosal venous malformation|VMCM|mucocutaneous venous malformations|Vmcm1|VENOUS malformations, multiple cutaneous and mucosal	http://purl.obolibrary.org/obo/MONDO_0010842	Orphanet:2451|DOID:0050792|http://identifiers.org/snomedct/699301008|https://omim.org/entry/600195|http://identifiers.org/mesh/C563977	ordo_malformation_syndrome
CHEBI:33832	biolink:ChemicalSubstance	organic cyclic compound	Any organic molecule that consists of atoms connected in the form of a ring.		mondo.json	organic cyclic compounds	http://purl.obolibrary.org/obo/CHEBI_33832		
MONDO:0010841	biolink:Disease	Waardenburg syndrome type 2B		DOID:0110947|OMIM:600193|UMLS:C1838447|GARD:0005522|MESH:C536465	mondo.json	Waardenburg syndrome, type 2B|Waardenburg syndrome type IIB|WS2B	http://purl.obolibrary.org/obo/MONDO_0010841	http://identifiers.org/mesh/C536465|UMLS:C1838447|DOID:0110947|https://omim.org/entry/600193	gard_rare
MONDO:0022812	biolink:Disease	complement receptor deficiency	A disorder with basis in disruption of a complement receptor.	SCTID:234628004|ICD9:279.8|UMLS:C0398783|GARD:0009527	mondo.json	complement receptor deficiency	http://purl.obolibrary.org/obo/MONDO_0022812	http://identifiers.org/snomedct/234628004|UMLS:C0398783	gard_rare
HGNC:2235	biolink:NamedThing	KLF6			mondo.json		http://identifiers.org/hgnc/2235		
MONDO:0022815	biolink:Disease	congenital absence of the sternocleidomastoid muscle		UMLS:C2931075|GARD:0009972|MESH:C535977	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022815	http://identifiers.org/mesh/C535977|UMLS:C2931075	gard_rare
MONDO:0022817	biolink:Disease	congenital amputation		GARD:0001471	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022817		gard_rare
MONDO:0022818	biolink:Disease	congenital aneurysms of the great vessels		GARD:0001472	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022818		gard_rare
HGNC:4892	biolink:NamedThing	HGD			mondo.json		http://identifiers.org/hgnc/4892		
MONDO:0010829	biolink:Disease	CARASIL syndrome	CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.	MESH:C563990|Orphanet:199354|OMIM:600142|SCTID:703219008|UMLS:C1838577|GARD:0010424	mondo.json	cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy|Maeda syndrome|cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy|cerebrovascular disease with thin skin, alopecia, and disc disease|CARASIL|subcortical vascular encephalopathy, progressive	http://purl.obolibrary.org/obo/MONDO_0010829	UMLS:C1838577|Orphanet:199354|https://omim.org/entry/600142|http://identifiers.org/mesh/C563990|http://identifiers.org/snomedct/703219008	ordo_disease
MONDO:0009859	biolink:Disease	PHAVER syndrome	Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects.	GARD:0004465|MESH:C538357|OMIM:261575|UMLS:C1849928|SCTID:723453002|Orphanet:2876	mondo.json	PHAVER syndrome|Powell-Chandra-Saal syndrome|pterygia heart defects autosomal recessive inheritance vertebral defects Ear anomalies and radial defects	http://purl.obolibrary.org/obo/MONDO_0009859	http://identifiers.org/snomedct/723453002|UMLS:C1849928|https://omim.org/entry/261575|http://identifiers.org/mesh/C538357|Orphanet:2876	ordo_malformation_syndrome|gard_rare
MONDO:0009858	biolink:Disease	Pfeiffer-Palm-Teller syndrome	Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit.	SCTID:726672000|UMLS:C1849929|OMIM:261560|Orphanet:2871|MESH:C537889|GARD:0004305	mondo.json	short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched voice|short stature, unique facies, enamel hypoplasia, progressive Joint stiffness, and high-pitched voice|Pfeiffer-Palm-Teller syndrome|Pfeiffer Palm Teller syndrome|PPT syndrome	http://purl.obolibrary.org/obo/MONDO_0009858	UMLS:C1849929|https://omim.org/entry/261560|http://identifiers.org/snomedct/726672000|Orphanet:2871|http://identifiers.org/mesh/C537889	ordo_malformation_syndrome|gard_rare
MONDO:0009857	biolink:Disease	persistent Mullerian duct syndrome	Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.	ICD9:752.89|MESH:C536665|DOID:0050791|GARD:0008435|Orphanet:2856|SCTID:702358005|NCIT:C120188|UMLS:C1849930|OMIM:261550	mondo.json	persistent mullerian duct syndrome, type II|female genital ducts in otherwise normal Male|persistent MULLERIAN duct syndrome, types I and II|persistent Mullerian derivatives|pseudohermaphroditism, Male internal|PMDS|female genital ducts in otherwise normal male|persistent oviduct syndrome|persistent Mullerian duct syndrome|persistent Muellerian duct syndrome|persistent Müllerian derivatives|persistent mullerian duct syndrome, types 1 and 2|persistent Müllerian duct syndrome|hernia uteri inguinale|persistent mullerian duct syndrome, type I	http://purl.obolibrary.org/obo/MONDO_0009857	http://identifiers.org/mesh/C536665|DOID:0050791|UMLS:C1849930|http://identifiers.org/snomedct/702358005|https://omim.org/entry/261550|NCIT:C120188|Orphanet:2856	gard_rare|ordo_malformation_syndrome
MONDO:0022810	biolink:Disease	Combarros Calleja Leno syndrome		GARD:0001449	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022810		gard_rare
MONDO:0009856	biolink:Disease	Peters plus syndrome	An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.	Orphanet:709|OMIM:261540|SCTID:449817000|ICD9:743.44|GARD:0008422|NCIT:C123436|MESH:C537617|DOID:0070312|DOID:0080201|UMLS:C0796012	mondo.json	Peters anomaly with short limb dwarfism|Peters anomaly with short-limb dwarfism|Krause-van Schooneveld-Kivlin syndrome|Krause-Kivlin syndrome|Peters-plus syndrome|Peters anomaly-short limb dwarfism syndrome	http://purl.obolibrary.org/obo/MONDO_0009856	http://identifiers.org/snomedct/449817000|UMLS:C0796012|NCIT:C123436|https://omim.org/entry/261540|DOID:0080201|http://identifiers.org/mesh/C537617|Orphanet:709	gard_rare|ordo_malformation_syndrome
MONDO:0009855	biolink:Disease	d-bifunctional protein deficiency	A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease.	DOID:0090031|SCTID:238068007|UMLS:C1533628|Orphanet:300|ICD9:277.6|GARD:0004539|UMLS:C0342870|NCIT:C119676|OMIM:261515|UMLS:CN203333	mondo.json	HSD17B4 deficiency|17-beta-hydroxysteroid dehydrogenase 4 deficiency|peroxisomal multifunctional enzyme deficiency|D-bifunctional enzyme deficiency|bifunctional enzyme deficiency|peroxisomal multifunctional enzyme (MFE2) deficiency|17-beta-hydroxysteroid dehydrogenase IV deficiency|peroxisomal bifunctional enzyme deficiency|pseudo-Zellweger syndrome|multifunctional enzyme deficiency|d-bifunctional protein deficiency|Pbfe deficiency|DBP deficiency	http://purl.obolibrary.org/obo/MONDO_0009855	UMLS:C0342870|UMLS:C1533628|UMLS:CN203333|NCIT:C119676|https://omim.org/entry/261515|http://identifiers.org/snomedct/238068007|Orphanet:300|DOID:0090031	gard_rare|ordo_disease
MONDO:0010822	biolink:Disease	Warburg micro syndrome 1	Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene.	DOID:0110716|OMIM:600118	mondo.json	micro syndrome 1|Warburg micro syndrome caused by mutation in RAB3GAP1|WARBURG micro syndrome 1|Warburg micro syndrome 1|micro syndrome|Warburg micro syndrome type 1|RAB3GAP1 Warburg micro syndrome|WARBM1	http://purl.obolibrary.org/obo/MONDO_0010822	https://omim.org/entry/600118|DOID:0110716	
MONDO:0010821	biolink:Disease	familial developmental dysphasia	Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal.	ICD10CM:F80.1|SCTID:721220004|Orphanet:1799|MESH:C563997|GARD:0001823|OMIM:600117|UMLS:C1838630	mondo.json	specific language impairment|Billard-Toutain-Maheut syndrome|developmental language disorder|dysphasia, familial developmental|developmental dysphasia familial|FOXP2-associated dysphasia	http://purl.obolibrary.org/obo/MONDO_0010821	http://identifiers.org/mesh/C563997|https://omim.org/entry/600117|http://identifiers.org/snomedct/721220004|Orphanet:1799|UMLS:C1838630	gard_rare|ordo_clinical_syndrome
MONDO:0009854	biolink:Disease	peroneus tertius muscle, absence of		OMIM:261400	mondo.json	peroneus tertius muscle, absence of	http://purl.obolibrary.org/obo/MONDO_0009854	https://omim.org/entry/261400	
MONDO:0009853	biolink:Disease	Imerslund-Grasbeck syndrome	Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.	MESH:C538556|SCTID:360495000|GARD:0007006|ICD9:281.3|Orphanet:35858|OMIMPS:261100	mondo.json	Gräsbeck-Imerslund disease|enterocyte cobalamin malabsorption|defect of enterocyte intrinsic factor receptor|selective cobalamin malabsorption with proteinuria|juvenile megaloblastic Anemia|Imerslund-Grasbeck syndrome|Imerslund-Gräsbeck syndrome|familial megaloblastic anemia	http://purl.obolibrary.org/obo/MONDO_0009853	https://omim.org/phenotypicSeries/PS261100|Orphanet:35858|http://identifiers.org/snomedct/360495000|http://identifiers.org/mesh/C538556	ordo_disease
MONDO:0010824	biolink:Disease	disorder of sex development-intellectual disability syndrome	Verloes-Gillerot-Fryns syndrome is a rare association of malformations.	Orphanet:2983|MESH:C535693|GARD:0004550|SCTID:719450007|OMIM:600122	mondo.json	Verloes-Gillerot-Fryns syndrome|pseudohermaphroditism-intellectual disability syndrome|Verloes syndrome|male pseudohermaphroditism/intellectual disability syndrome, Verloes type|disorder of sex development intellectual disability|Verloes Gillerot Fryns syndrome|male pseudohermaphroditism/mental retardation syndrome, Verloes type|Male pseudohermaphroditism intellectual disability syndrome, Verloes type	http://purl.obolibrary.org/obo/MONDO_0010824	https://omim.org/entry/600122|http://identifiers.org/snomedct/719450007|Orphanet:2983|http://identifiers.org/mesh/C535693	ordo_disease
MONDO:0009852	biolink:Disease	hereditary intrinsic factor deficiency	Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.	OMIM:261000|GARD:0003024|ICD9:281.3|MedDRA:10070440|DOID:0050734|SCTID:34925000|SCTID:60504009|Orphanet:332|MESH:C563242|UMLS:C1394891	mondo.json	intrinsic factor, congenital deficiency of|congenital pernicious anemia due to defect of intrinsic factor|IFD|intrinsic factor deficiency|congenital intrinsic factor deficiency|congenital pernicious anemia|pernicious Anemia, congenital, due to defect of intrinsic Factor|gastric intrinsic factor deficiency|hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency	http://purl.obolibrary.org/obo/MONDO_0009852	http://identifiers.org/mesh/C563242|https://omim.org/entry/261000|Orphanet:332|http://identifiers.org/snomedct/60504009|DOID:0050734	ordo_disease
MONDO:0010823	biolink:Disease	rhizomelic chondrodysplasia punctata type 3	Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene.	OMIM:600121|MESH:C537608|UMLS:C1838612|GARD:0009682|Orphanet:309803|DOID:0110853	mondo.json	rhizomelic chondrodysplasia punctata type 3|RCDP3|AGPS rhizomelic chondrodysplasia punctata|AGPS deficiency|alkyldihydroxyacetonephosphate synthase deficiency|rhizomelic chondrodysplasia punctata, type 3|rhizomelic chondrodysplasia punctata caused by mutation in AGPS|alkylglycerone-phosphate synthase deficiency	http://purl.obolibrary.org/obo/MONDO_0010823	DOID:0110853|https://omim.org/entry/600121|Orphanet:309803|http://identifiers.org/mesh/C537608|UMLS:C1838612	ordo_etiological_subtype|gard_rare
CHEBI:33847	biolink:ChemicalSubstance	monocyclic arene	A monocyclic aromatic hydrocarbon.		mondo.json	monocyclic arenes	http://purl.obolibrary.org/obo/CHEBI_33847		
MONDO:0010826	biolink:Disease	childhood absence epilepsy	Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis.	SCTID:230413002|OMIM:607681|OMIM:611942|DOID:1825|OMIMPS:600131|OMIM:612269|OMIM:611136|SCTID:50866000|Orphanet:64280|OMIM:600131	mondo.json	pyknolepsy|petit mal seizure|absence seizure	http://purl.obolibrary.org/obo/MONDO_0010826	https://omim.org/phenotypicSeries/PS600131|Orphanet:64280|DOID:1825|http://identifiers.org/snomedct/50866000	predisposition|ordo_disease
CHEBI:33848	biolink:ChemicalSubstance	polycyclic arene	A polycyclic aromatic hydrocarbon.		mondo.json	polycyclic arenes|polycyclic aromatic hydrocarbons|PAHs|PAH	http://purl.obolibrary.org/obo/CHEBI_33848		
MONDO:0009851	biolink:Disease	peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain		OMIM:260970|MESH:C564894|UMLS:C1850022	mondo.json	peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain	http://purl.obolibrary.org/obo/MONDO_0009851	http://identifiers.org/mesh/C564894|UMLS:C1850022|https://omim.org/entry/260970	
MONDO:0009850	biolink:Disease	periodontitis, chronic, adult		OMIM:260950|SCTID:74797001|UMLS:C0266929	mondo.json	periodontitis, adult|periodontitis, chronic	http://purl.obolibrary.org/obo/MONDO_0009850	http://identifiers.org/snomedct/74797001|https://omim.org/entry/260950|UMLS:C0266929	
MONDO:0010825	biolink:Disease	atrioventricular defect-blepharophimosis-radial and anal defect syndrome	Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.	Orphanet:1352|MESH:C563994|UMLS:C1838606|OMIM:600123	mondo.json	atrioventricular septal defect with blepharophimosis and anal and radial defects|Houlston-Ironton-Temple syndrome	http://purl.obolibrary.org/obo/MONDO_0010825	http://identifiers.org/mesh/C563994|https://omim.org/entry/600123|Orphanet:1352|UMLS:C1838606	ordo_malformation_syndrome
MONDO:0010828	biolink:Disease	retinitis pigmentosa 11	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene.	GARD:0010383|OMIM:600138|DOID:0110408|UMLS:C1838601|ICD10CM:H35.5|MESH:C563991	mondo.json	PRPF31 retinitis pigmentosa|RP11|retinitis pigmentosa caused by mutation in PRPF31|retinitis pigmentosa type 11|retinitis pigmentosa 11|RP 11	http://purl.obolibrary.org/obo/MONDO_0010828	UMLS:C1838601|DOID:0110408|https://omim.org/entry/600138|http://identifiers.org/mesh/C563991	gard_rare
MONDO:0010827	biolink:Disease	retinitis pigmentosa 14	Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene.	GARD:0010385|UMLS:C1838603|OMIM:600132|DOID:0110381|ICD10CM:H35.5	mondo.json	retinitis pigmentosa caused by mutation in TULP1|retinitis pigmentosa type 14|RP14|retinitis pigmentosa 14|TULP1 retinitis pigmentosa|RP 14	http://purl.obolibrary.org/obo/MONDO_0010827	DOID:0110381|UMLS:C1838603|https://omim.org/entry/600132	gard_rare
MONDO:0022808	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0022808		
MONDO:0022809	biolink:Disease	Colver Steer Godman syndrome		GARD:0001448	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022809		gard_rare
MONDO:0010831	biolink:Disease	familial caudal dysgenesis	Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies.	GARD:0000215|NCIT:C99054|SCTID:722493007|OMIM:600145|GARD:0004751|Orphanet:1768	mondo.json	sacral agenesis|Sdam|caudal regression|SDAM|familial caudal dysgenesis|caudal dysgenesis syndrome|Rudd-Klimek syndrome|caudal dysgenesis familial type|sacral defect with anterior meningocele|caudal regression syndrome|sirenomelia	http://purl.obolibrary.org/obo/MONDO_0010831	Orphanet:1768|NCIT:C99054|http://identifiers.org/snomedct/722493007|https://omim.org/entry/600145	ordo_malformation_syndrome|gard_rare
CHEBI:33842	biolink:ChemicalSubstance	aromatic annulene			mondo.json	aromatic annulenes	http://purl.obolibrary.org/obo/CHEBI_33842		
MONDO:0010830	biolink:Disease	neuronal ceroid lipofuscinosis 8	Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene.	SCTID:703526007|Orphanet:228354|MESH:C537952|DOID:0110723|OMIM:600143	mondo.json	CLN8|neuronal ceroid lipofuscinosis type 8|ceroid lipofuscinosis, neuronal, 8|ceroid lipofuscinosis, neuronal, type 8|CLN8 disease|CLN8 neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis 8|neuronal ceroid lipofuscinosis caused by mutation in CLN8	http://purl.obolibrary.org/obo/MONDO_0010830	Orphanet:228354|http://identifiers.org/snomedct/703526007|http://identifiers.org/mesh/C537952|DOID:0110723|https://omim.org/entry/600143	ordo_etiological_subtype
MONDO:0022800	biolink:Disease	type 2 collagenopathy	Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene.	HGNC:2200|UMLS:CN227672|GARD:0009246|UMLS:C2931073|MESH:C535964|Orphanet:93421	mondo.json	COL2A1 disease or disorder|collagen II|COL2A1|disease or disorder caused by mutation in COL2A1|collagenopathy type 2 alpha 1|cartilage collagen	http://purl.obolibrary.org/obo/MONDO_0022800	http://identifiers.org/mesh/C535964|UMLS:C2931073|Orphanet:93421|UMLS:CN227672	gard_rare|disease_grouping|ordo_group_of_disorders
MONDO:0022802	biolink:Disease	Collins-Sakati syndrome		GARD:0001429	mondo.json	Collins Sakati syndrome	http://purl.obolibrary.org/obo/MONDO_0022802		gard_rare
MONDO:0022803	biolink:Disease	coloboma porencephaly hydronephrosis		GARD:0001439	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022803		gard_rare
MONDO:0022804	biolink:Disease	colobomata unilobar lung heart defect		GARD:0001442	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022804		gard_rare
HP:0002186	biolink:PhenotypicFeature	Apraxia	A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.	UMLS:C0003635|MSH:D001072|SNOMEDCT_US:68345001|SNOMEDCT_US:6950007	mondo.json	Apraxias	http://purl.obolibrary.org/obo/HP_0002186		
HGNC:20914	biolink:NamedThing	BLOC1S3			mondo.json		http://identifiers.org/hgnc/20914		
HP:0100737	biolink:PhenotypicFeature	Abnormal hard palate morphology		UMLS:C4021983	mondo.json	Abnormality of the hard palate|Abnormality of the secondary palate	http://purl.obolibrary.org/obo/HP_0100737		
MONDO:0022805	biolink:Disease	colonic malakoplakia		GARD:0006137	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022805		gard_rare
HGNC:2244	biolink:NamedThing	COQ7			mondo.json		http://identifiers.org/hgnc/2244		
HP:0002185	biolink:PhenotypicFeature	Neurofibrillary tangles	Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.	MSH:D016874|SNOMEDCT_US:85775002|UMLS:C0085400	mondo.json	Neurofibrillary tangles composed of disordered microtubules in neurons|Paired helical filaments	http://purl.obolibrary.org/obo/HP_0002185		
MONDO:0010819	biolink:Disease	Stargardt disease 3		OMIM:600110|UMLS:C1838644|MESH:C535805	mondo.json	Stargardt disease 3|Stargardt disease type 3|STGD3|macular dystrophy with flecks, type 3|Stargardt-like macular dystrophy, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0010819	UMLS:C1838644|http://identifiers.org/mesh/C535805|https://omim.org/entry/600110	
MONDO:0009829	biolink:Disease	obsolete pallidal degeneration, progressive, with retinitis pigmentosa		UMLS:C1850101|OMIM:260200|MESH:C564910	mondo.json	pallidal degeneration, progressive, with retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0009829	https://omim.org/entry/260200|http://identifiers.org/mesh/C564910|UMLS:C1850101	
MONDO:0010818	biolink:Disease	retinitis pigmentosa 12	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene.	GARD:0010376|DOID:0110358|ICD10CM:H35.5|MESH:C563999|UMLS:C1838647|OMIM:600105	mondo.json	retinitis pigmentosa 12|RP with or without Pprpe|RP 12|retinitis pigmentosa with or without Paraarteriolar preservation of retinal pigment epithelium|retinitis pigmentosa-12|retinitis pigmentosa type 12|RP with or without preserved Paraarteriole retinal pigment epithelium|RP12|CRB1 retinitis pigmentosa|retinitis pigmentosa caused by mutation in CRB1	http://purl.obolibrary.org/obo/MONDO_0010818	UMLS:C1838647|DOID:0110358|https://omim.org/entry/600105|http://identifiers.org/mesh/C563999	gard_rare
MONDO:0009828	biolink:Disease	palant cleft palate syndrome		OMIM:260150|MESH:C538102|UMLS:C1850102|GARD:0004198	mondo.json	unusual facies, cleft palate, intellectual disability, and limb abnormalities|unusual facies, cleft palate, mental retardation, and limb abnormalities|Palant cleft palate syndrome	http://purl.obolibrary.org/obo/MONDO_0009828	http://identifiers.org/mesh/C538102|UMLS:C1850102|https://omim.org/entry/260150	gard_rare
MONDO:0009827	biolink:Disease	obsolete pachyonychia congenita, autosomal recessive		MESH:C538094|UMLS:C1850103|OMIM:260130	mondo.json	pachyonychia congenita, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009827	UMLS:C1850103|http://identifiers.org/mesh/C538094|https://omim.org/entry/260130	
MONDO:0009826	biolink:Disease	PA polymorphism of alpha-2-globulin		OMIM:260100	mondo.json	PA polymorphism of alpha-2-globulin|Alpha-2-globulin polymorphism Pa	http://purl.obolibrary.org/obo/MONDO_0009826	https://omim.org/entry/260100	
MONDO:0009825	biolink:Disease	5-oxoprolinase deficiency	5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.	ICD9:270.8|UMLS:C0268525|MESH:C535322|HP:0040142|OMIM:260005|SCTID:26132002|GARD:0005681|Orphanet:33572	mondo.json	5-oxoprolinase deficiency (disease)|inborn 5-oxoprolinase (ATP-hydrolyzing) activity disorder|oxoprolinuria due to oxoprolinase deficiency|oxoprolinuria due to 5-oxoprolinase deficiency|rare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity|5-alpha-oxoprolinase deficiency|inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity|5-oxoprolinase deficiency|OPLAHD	http://purl.obolibrary.org/obo/MONDO_0009825	http://identifiers.org/snomedct/26132002|http://identifiers.org/mesh/C535322|https://omim.org/entry/260005|UMLS:C0268525|Orphanet:33572	ordo_disease
MONDO:0009824	biolink:Disease	primary hyperoxaluria type 2	Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.	SCTID:40951006|ICD9:271.8|MESH:C536415|OMIM:260000|UMLS:C0268165|Orphanet:93599|DOID:0111671|NCIT:C123213|GARD:0002836	mondo.json	GRHPR primary hyperoxaluria|glyoxylate reductase/hydroxypyruvate reductase deficiency|primary hyperoxaluria caused by mutation in GRHPR|glyceric aciduria|hyperoxaluria, primary, type 2|D-glycerate dehydrogenase deficiency|HP2|primary hyperoxaluria type 2|Oxalosis 2|L-glyceric aciduria|hyperoxaluria, primary, type II|primary hyperoxaluria type II	http://purl.obolibrary.org/obo/MONDO_0009824	http://identifiers.org/snomedct/40951006|http://identifiers.org/mesh/C536415|DOID:0111671|UMLS:C0268165|NCIT:C123213|Orphanet:93599|https://omim.org/entry/260000	gard_rare|ordo_clinical_subtype
MONDO:0009823	biolink:Disease	primary hyperoxaluria type 1	A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.	SCTID:65520001|ICD9:271.8|MESH:C536414|UMLS:C0268164|Orphanet:93598|OMIM:259900|NCIT:C123212|DOID:0111670|GARD:0002835	mondo.json	hepatic AGT deficiency|hyperoxaluria, primary, type I|peroxisomal alanine:glyoxylate aminotransferase deficiency|glycolic aciduria|PH1|serine pyruvate aminotransferase deficiency|hyperoxaluria, primary, type 1|alanine-glyoxylate aminotransferase deficiency|peroxisomal alanine-glyoxylate aminotransferase deficiency|AGXT primary hyperoxaluria|Oxalosis 1|HP1|primary hyperoxaluria type 1|peroxisomal alanine glyoxylate aminotransferase deficiency|serine:pyruvate aminotransferase deficiency|primary hyperoxaluria caused by mutation in AGXT|primary hyperoxaluria type I	http://purl.obolibrary.org/obo/MONDO_0009823	http://identifiers.org/mesh/C536414|DOID:0111670|Orphanet:93598|NCIT:C123212|http://identifiers.org/snomedct/65520001|UMLS:C0268164|https://omim.org/entry/259900	gard_rare|ordo_clinical_subtype
MONDO:0009822	biolink:Disease	otoonychoperoneal syndrome		UMLS:C1850105|GARD:0004170|SCTID:441944007|OMIM:259780|Orphanet:2793|MESH:C564912|ICD9:759.89	mondo.json	oto-onycho-peroneal syndrome|otoonychoperoneal syndrome	http://purl.obolibrary.org/obo/MONDO_0009822	Orphanet:2793|http://identifiers.org/mesh/C564912|http://identifiers.org/snomedct/441944007|https://omim.org/entry/259780|UMLS:C1850105	gard_rare|ordo_malformation_syndrome
MONDO:0010811	biolink:Disease	benign prostatic hyperplasia	A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow.	DOID:2883|EFO:0000284|ICD9:600|NCIT:C2897|OMIM:600082|DOID:11132|ICD9:600.20|HP:0008711|UMLS:C1704272|SCTID:266569009|MESH:D011470|ICD9:600.0	mondo.json	prostatic hypertrophy|benign prostatic hyperplasia|benign prostatic hyperplasia (disease)|benign hyperplasia of prostate|benign hyperplasia of the prostate|BPH|benign prostate hyperplasia|prostate hypertrophy|prostatic hyperplasia, benign|benign prostatic Hypertrophy|benign prostatic hypertrophy|benign prostatic hyperplasia - BPH	http://purl.obolibrary.org/obo/MONDO_0010811	UMLS:C1704272|DOID:11132|https://omim.org/entry/600082|http://identifiers.org/snomedct/266569009|NCIT:C2897|http://identifiers.org/mesh/D011470	
MONDO:0010810	biolink:Disease	vitamin D hydroxylation-deficient rickets, type 1B	An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets.	UMLS:C1838657|OMIM:600081|MESH:C564005|NCIT:C131074	mondo.json	vitamin D 25-Hydroxylase deficiency|vitamin D hydroxylation-deficient rickets type 1b|vitamin D hydroxylation-deficient rickets, type 1B|VDDR1B|rickets due to defect in vitamin D 25-hydroxylation deficiency|vitamin D-dependent rickets, type 1B|Vitam D hydroxylation-deficient rickets type 1b|25-Hydroxyvitamin D3 deficiency, selective|vitamin D-dependent rickets, type 1 caused by mutation in CYP2R1|Pseudovitamin D3 deficiency rickets due to 25-Hydroxylase deficiency|CYP2R1 vitamin D-dependent rickets, type 1	http://purl.obolibrary.org/obo/MONDO_0010810	https://omim.org/entry/600081|NCIT:C131074|http://identifiers.org/mesh/C564005|UMLS:C1838657	
MONDO:0009821	biolink:Disease	lethal osteosclerotic bone dysplasia	Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.	Orphanet:1832|OMIM:259660|MESH:C564916|UMLS:C1850141|UMLS:C1850106|GARD:0000282|MESH:C535282|OMIM:259775	mondo.json	RAINE syndrome|RNS|osteomalacia, sclerosing, with cerebral calcification|osteosclerotic bone dysplasia, lethal|Raine syndrome|lethal osteosclerotic bone dysplasia|combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis	http://purl.obolibrary.org/obo/MONDO_0009821	Orphanet:1832|http://identifiers.org/mesh/C535282|http://identifiers.org/mesh/C564916|https://omim.org/entry/259660|UMLS:C1850141|UMLS:C1850106	ordo_malformation_syndrome
MONDO:0010813	biolink:Disease	pancreatic beta cell agenesis with neonatal diabetes mellitus		OMIM:600089|MESH:C538111|UMLS:C1838655|Orphanet:28455	mondo.json	diabetes mellitus, insulin-dependent, neonatal|pancreatic beta cell agenesis with neonatal diabetes mellitus	http://purl.obolibrary.org/obo/MONDO_0010813	UMLS:C1838655|https://omim.org/entry/600089|http://identifiers.org/mesh/C538111	
MONDO:0009820	biolink:Disease	osteoporosis-pseudoglioma syndrome	Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.	NCIT:C130998|DOID:0060849|OMIM:259770|Orphanet:2788|UMLS:C0432252|GARD:0004160|MESH:C536063|MedDRA:10052452	mondo.json	osteoporosis pseudoglioma syndrome|OPPG|Ops|ocular form of osteogenesis imperfecta|pseudoglioma with bone fragility|osteoporosis-pseudoglioma syndrome|osteogenesis imperfecta ocular form|osteogenesis imperfecta, ocular form	http://purl.obolibrary.org/obo/MONDO_0009820	http://identifiers.org/mesh/C536063|UMLS:C0432252|https://omim.org/entry/259770|DOID:0060849|NCIT:C130998|Orphanet:2788	ordo_disease|gard_rare
MONDO:0010812	biolink:Disease	macrocytosis, familial		UMLS:C1838656|OMIM:600084|MESH:C564004	mondo.json	macrocytosis, familial	http://purl.obolibrary.org/obo/MONDO_0010812	UMLS:C1838656|https://omim.org/entry/600084|http://identifiers.org/mesh/C564004	
MONDO:0010815	biolink:Disease	spondyloepiphyseal dysplasia tarda with characteristic facies		UMLS:C1838653|OMIM:600093|MESH:C564003	mondo.json	spondyloepiphyseal dysplasia tarda with characteristic facies	http://purl.obolibrary.org/obo/MONDO_0010815	UMLS:C1838653|https://omim.org/entry/600093|http://identifiers.org/mesh/C564003	
MONDO:0010814	biolink:Disease	chondrodysplasia-pseudohermaphroditism syndrome	Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested.	OMIM:600092|MESH:C536123|SCTID:720851007|UMLS:C1838654|Orphanet:1422|DOID:0060644	mondo.json	Nivelon-Nivelon-Mabille syndrome|chondrodysplasia-disorder of sex development syndrome|chondrodysplasia-pseudohermaphroditism syndrome	http://purl.obolibrary.org/obo/MONDO_0010814	UMLS:C1838654|DOID:0060644|https://omim.org/entry/600092|http://identifiers.org/snomedct/720851007|Orphanet:1422|http://identifiers.org/mesh/C536123	ordo_malformation_syndrome
MONDO:0010817	biolink:Disease	autosomal dominant nonsyndromic hearing loss 2A	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene.	DOID:0110558|MESH:C567441|OMIM:600101|UMLS:C2677637	mondo.json	DFNA2A|deafness, autosomal dominant 2a|autosomal dominant nonsyndromic deafness type 2A|deafness, autosomal dominant 2A|KCNQ4 autosomal dominant nonsyndromic deafness|autosomal dominant deafness 2A|autosomal dominant nonsyndromic deafness caused by mutation in KCNQ4|deafness, autosomal dominant type 2A|autosomal dominant nonsyndromic deafness 2A	http://purl.obolibrary.org/obo/MONDO_0010817	DOID:0110558|https://omim.org/entry/600101|http://identifiers.org/mesh/C567441|UMLS:C2677637	
MONDO:0010816	biolink:Disease	Qazi Markouizos syndrome	Qazi-Markouizos syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys.	MESH:C536259|DOID:0050740|OMIM:600096|UMLS:C2931142|GARD:0000371|Orphanet:3010|SCTID:721887007	mondo.json	Dysharmonic skeletal maturation muscular fibre disproportion|Dysharmonic skeletal maturation-muscular fiber disproportion syndrome|Puertorican infant hypotonia syndrome|Qazi-Markouizos syndrome|hypotonia, psychomotor retardation, seizures, delayed and Dysharmonic skeletal maturation, and congenital fibre type disproportion|PUERTO RICAN infant hypotonia syndrome|Dysharmonic skeletal maturation - muscular fibre disproportion	http://purl.obolibrary.org/obo/MONDO_0010816	DOID:0050740|UMLS:C2931142|https://omim.org/entry/600096|Orphanet:3010|http://identifiers.org/mesh/C536259|http://identifiers.org/snomedct/721887007	ordo_disease|gard_rare
HP:0002157	biolink:PhenotypicFeature	Azotemia	An increased concentration of nitrogen compounds in the blood.	UMLS:C0242528|MSH:D053099|SNOMEDCT_US:445009001	mondo.json	Azotaemia	http://purl.obolibrary.org/obo/HP_0002157		
HGNC:2252	biolink:NamedThing	CORO1A			mondo.json		http://identifiers.org/hgnc/2252		
HP:0002156	biolink:PhenotypicFeature	Homocystinuria	An increased concentration of homocystine in the urine.	UMLS:C0019880|MSH:D006712|SNOMEDCT_US:11282001	mondo.json	High urine homocystine levels	http://purl.obolibrary.org/obo/HP_0002156		
MONDO:0010820	biolink:Disease	autosomal recessive juvenile Parkinson disease 2	A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see parkinson disease), secondary parkinsonism (see parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal ganglia.	OMIM:600116|GARD:0009642|UMLS:C1868675|DOID:0060368	mondo.json	PDJ|JP|autosomal recessive juvenile Parkinson disease type 2|Parkinson disease autosomal recessive, early onset|Parkinsonism, early onset, with diurnal fluctuation|Parkinson disease 2, autosomal recessive juvenile|juvenile parkinsonism|PARK2|autosomal recessive juvenile Parkinson's disease 2|Parkinson disease, juvenile, type 2|Parkinson disease 2|Parkinson disease, juvenile, autosomal recessive|young-onset Parkinson disease caused by mutation in PRKN|autosomal recessive juvenile Parkinson disease 2|PRKN young-onset Parkinson disease|autosomal recessive juvenile Parkinson disease|Parkinsonism, early-onset, with diurnal fluctuation	http://purl.obolibrary.org/obo/MONDO_0010820	https://omim.org/entry/600116|UMLS:C1868675|DOID:0060368	
HP:0002150	biolink:PhenotypicFeature	Hypercalciuria		UMLS:C0020438|SNOMEDCT_US:71938000|MSH:D053565	mondo.json	Elevated urine calcium levels|Hypercalcinuria	http://purl.obolibrary.org/obo/HP_0002150		
HP:0002153	biolink:PhenotypicFeature	Hyperkalemia	An abnormally increased potassium concentration in the blood.	MSH:D006947|UMLS:C0020461|SNOMEDCT_US:166689004|SNOMEDCT_US:238142003|SNOMEDCT_US:14140009	mondo.json	Elevated serum potassium levels	http://purl.obolibrary.org/obo/HP_0002153		
MONDO:0010808	biolink:Disease	fatal familial insomnia	Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.	GARD:0006429|NCIT:C84711|DOID:0050433|ICD9:046.72|UMLS:C0206042|MESH:D034062|Orphanet:466|SCTID:83157008|OMIM:600072|ICD10CM:A81.83|MedDRA:10072077	mondo.json	fatal familial INSOMNIA|Insomnia familial fatal|fatal familial insomnia|familial fatal insomnia|Insomnia, fatal familial|FFI	http://purl.obolibrary.org/obo/MONDO_0010808	UMLS:C0206042|Orphanet:466|DOID:0050433|http://identifiers.org/mesh/D034062|https://omim.org/entry/600072|http://identifiers.org/snomedct/83157008|NCIT:C84711|http://purl.bioontology.org/ontology/ICD10CM/A81.83	gard_rare|ordo_disease
MONDO:0010807	biolink:Disease	autosomal recessive nonsyndromic hearing loss 2	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.	UMLS:C1838701|DOID:0110477|OMIM:600060|MESH:C564007	mondo.json	neurosensory nonsyndromic recessive deafness 2|deafness, autosomal recessive type 2|MYO7A autosomal recessive nonsyndromic deafness|DFNB2|autosomal recessive nonsyndromic deafness 2|autosomal recessive nonsyndromic deafness type 2|deafness, autosomal recessive 2|autosomal recessive deafness 2|autosomal recessive nonsyndromic deafness caused by mutation in MYO7A	http://purl.obolibrary.org/obo/MONDO_0010807	http://identifiers.org/mesh/C564007|DOID:0110477|UMLS:C1838701|https://omim.org/entry/600060	
MONDO:0009839	biolink:Disease	progressive supranuclear palsy-parkinsonism syndrome	PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.	Orphanet:240085|UMLS:CN201680|OMIM:260540|MESH:C537240|GARD:0004507	mondo.json	supranuclear palsy, progressive, 1, atypical|progressive supranuclear palsy atypical|Parkinson-dementia syndrome|PSP-p|PSP-parkinsonism|atypical PSP|Steele-Richardson-Olszewski syndrome, atypical|supranuclear palsy, progressive atypical	http://purl.obolibrary.org/obo/MONDO_0009839	https://omim.org/entry/260540|UMLS:CN201680|http://identifiers.org/mesh/C537240|Orphanet:240085	ordo_clinical_subtype
MONDO:0010809	biolink:Disease	familial chronic myelocytic leukemia-like syndrome	A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome).	MESH:C536093|DOID:0060761|GARD:0010141|UMLS:C1838670|OMIM:600080	mondo.json	myelocytic leukemia-like syndrome, familial, chronic|familial CML-like syndrome|CML-like syndrome, familial	http://purl.obolibrary.org/obo/MONDO_0010809	http://identifiers.org/mesh/C536093|UMLS:C1838670|https://omim.org/entry/600080|DOID:0060761	gard_rare
MONDO:0009838	biolink:Disease	Parana hard-skin syndrome	A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death.	GARD:0002598|MESH:C564905|OMIM:260530|UMLS:C1850079|NCIT:C126559|Orphanet:2812	mondo.json	Parana hard-skin syndrome|Parana hard skin syndrome|hard skin syndrome, Parana type|hard skin syndrome Parana type|hard-skin syndrome, Parana type	http://purl.obolibrary.org/obo/MONDO_0009838	Orphanet:2812|NCIT:C126559|http://identifiers.org/mesh/C564905|UMLS:C1850079|https://omim.org/entry/260530	ordo_disease
MONDO:0009837	biolink:Disease	choroid plexus papilloma	Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor, accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure.	NCIT:C3698|UMLS:C0205770|SCTID:425868004|EFO:1000177|MESH:D020288|ICDO:9390/0|MedDRA:10008777|GARD:0004214|ONCOTREE:CPP|Orphanet:251899|Orphanet:2807|DOID:2626|OMIM:260500	mondo.json	childhood papilloma of choroid plexus|pediatric papilloma of choroid plexus|CPP|papilloma of choroid plexus|papilloma of the choroid plexus|childhood choroid plexus papilloma|choroid plexus papilloma|choroid plexus carcinoma|choroid plexus papilloma, no ICD-O subtype|choroid plexus papilloma NOS (morphologic abnormality)|papilloma, choroid plexus, benign	http://purl.obolibrary.org/obo/MONDO_0009837	Orphanet:2807|UMLS:C0205770|DOID:2626|http://identifiers.org/mesh/D020288|NCIT:C3698|http://identifiers.org/snomedct/425868004|https://omim.org/entry/260500	ordo_disease
MONDO:0009836	biolink:Disease	pancreatitis, sclerosing cholangitis, and sicca complex		OMIM:260480|UMLS:C1850080|MESH:C564906	mondo.json	pancreatitis, sclerosing cholangitis, and sicca complex	http://purl.obolibrary.org/obo/MONDO_0009836	http://identifiers.org/mesh/C564906|UMLS:C1850080|https://omim.org/entry/260480	
NCIT:C36779	biolink:NamedThing	Malignant Epithelial Cell			mondo.json		http://purl.obolibrary.org/obo/NCIT_C36779		
MONDO:0009835	biolink:Disease	subacute sclerosing panencephalitis	Subacute sclerosing panencephalitis (SSPE) is a chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex.	Orphanet:2806|ICD9:046.2|EFO:0007502|OMIM:260470|MESH:D013344|NCIT:C85171|DOID:8970|ICD10CM:A81.1|UMLS:C0038522|GARD:0007708	mondo.json	panencephalitis, SUBACUTE sclerosing|Immunosuppressive measles encephalitis|Subacute sclerosing panencephalitis (disorder) [ambiguous]|SSPE|Dawson encephalitis|Van Bogaert's sclerosing leukoencephalitis|subacute sclerosing panencephalitis|subacute sclerosing leukoencephalopathy|Dawson disease|Subacute inclusion body encephalitis|Subacute sclerosing panencephalitis|Van Bogaert encephalitis|Dawson's encephalitis|Subacute sclerosing leukoencephalitis|Van Bogaert disease	http://purl.obolibrary.org/obo/MONDO_0009835	Orphanet:2806|UMLS:C0038522|NCIT:C85171|http://purl.bioontology.org/ontology/ICD10CM/A81.1|DOID:8970|https://omim.org/entry/260470|http://identifiers.org/mesh/D013344	gard_rare|ordo_disease
MONDO:0009834	biolink:Disease	obsolete pancreatic insufficiency, combined exocrine			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009834		
MONDO:0009833	biolink:Disease	Shwachman-Diamond syndrome	Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.	MESH:C537330|Orphanet:811|GARD:0004863|NCIT:C61235|OMIMPS:260400|SCTID:89454001|MedDRA:10067940|DOID:0060479|DOID:0080023	mondo.json	Shwachman-Diamond syndrome|pancreatic insufficiency and bone marrow dysfunction|Schwachman-Diamond syndrome|lipomatosis of pancreas, congenital|Shwachman syndrome|Shwachman-Bodian syndrome|SDS|congenital lipomatosis of pancreas|Shwachman-Bodian-Diamond syndrome|Shwachman-Diamond type metaphyseal dysplasia|Schwachmann-Diamond syndrome	http://purl.obolibrary.org/obo/MONDO_0009833	Orphanet:811|NCIT:C61235|DOID:0060479|http://identifiers.org/snomedct/89454001|https://omim.org/phenotypicSeries/PS260400|http://identifiers.org/mesh/C537330	ordo_disease|gard_rare
MONDO:0010800	biolink:Disease	Wolfram syndrome, mitochondrial form		DOID:0080583|MESH:C564012|UMLS:C1838782|OMIM:598500	mondo.json	Didmoad syndrome, mitochondrial form|diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form|Wolfram syndrome, mitochondrial form	http://purl.obolibrary.org/obo/MONDO_0010800	UMLS:C1838782|https://omim.org/entry/598500|DOID:0080583|http://identifiers.org/mesh/C564012	
CHEBI:33822	biolink:ChemicalSubstance	organic hydroxy compound	An organic compound having at least one hydroxy group attached to a carbon atom.		mondo.json	organic hydroxy compounds|hydroxy compounds|organic alcohol	http://purl.obolibrary.org/obo/CHEBI_33822		
MONDO:0009832	biolink:Disease	pancreatic agenesis	Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.	Orphanet:2805|MESH:C564908|UMLS:C1850096|SCTID:719044008|DOID:0050877|OMIMPS:260370	mondo.json	partial agenesis of the pancreas|PAGEN1|partial pancreatic agenesis|congenital pancreatic agenesis|pancreatic agenesis type 1|pancreatic agenesis 1	http://purl.obolibrary.org/obo/MONDO_0009832	DOID:0050877|http://identifiers.org/mesh/C564908|http://identifiers.org/snomedct/719044008|UMLS:C1850096|https://omim.org/phenotypicSeries/PS260370|Orphanet:2805	prototype_pattern|ordo_morphological_anomaly
MONDO:0010802	biolink:Disease	pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).	OMIM:600001|MESH:C564011|DOID:0111733|Orphanet:2255|SCTID:722206009|GARD:0000347	mondo.json	pancreatic hypoplasia-diabetes-congenital heart disease syndrome|pancreatic agenesis and congenital heart defects|HDCA|pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease|Yorifuji-Okuno syndrome|heart defects, congenital, and other congenital anomalies|congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease|hereditary pancreatic hypoplasia, diabetes mellitus and congenital heart disease|Yorifuji Okuno syndrome	http://purl.obolibrary.org/obo/MONDO_0010802	http://identifiers.org/mesh/C564011|DOID:0111733|https://omim.org/entry/600001|http://identifiers.org/snomedct/722206009|Orphanet:2255	ordo_disease
MONDO:0009831	biolink:Disease	malignant pancreatic neoplasm	A malignant neoplasm involving the pancreas.	NCIT:C9005|DOID:1793|ICD9:157.2|ICD9:157.1|ICD9:157.0|EFO:1000359|KEGG:05212|ICD9:157.8	mondo.json	pancreas neoplasm|pancreatic cancer|cancer of pancreas|malignant pancreatic neoplasm|malignant neoplasm of pancreas|pancreas cancer|malignant neoplasm of the pancreas|Ca body of pancreas|malignant neoplasm of body of pancreas|Ca head of pancreas|malignant pancreas neoplasm|Ca tail of pancreas|malignant neoplasm of head of pancreas|malignant neoplasm of tail of pancreas	http://purl.obolibrary.org/obo/MONDO_0009831	DOID:1793|NCIT:C9005	
MONDO:0009830	biolink:Disease	parkinsonian-pyramidal syndrome	A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3.	MESH:C538104|DOID:0060372|OMIM:260300|OMIM:168601|Orphanet:171695|UMLS:C1850100|GARD:0009175	mondo.json	PARK15|Parkinson disease 15, autosomal recessive|autosomal recessive early-onset Parkinson disease 15|pallido-pyramidal syndrome|autosomal recessive early-onset Parkinson's disease 15|parkinsonian-pyramidal syndrome|pallidopyramidal syndrome|Pallidopyramidal syndrome|Parkinson disease 15, autosomal recessive early-onset|pallido-pyramidal disease|autosomal recessive early-onset Parkinson disease type 15	http://purl.obolibrary.org/obo/MONDO_0009830	DOID:0060372|UMLS:C1850100|Orphanet:171695|http://identifiers.org/mesh/C538104|https://omim.org/entry/260300	ordo_disease
MONDO:0010801	biolink:Disease	spondylocamptodactyly syndrome	Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis.	UMLS:C1838781|GARD:0004972|OMIM:600000|UMLS:C4274762|SCTID:716231009|MESH:C535779|Orphanet:3180	mondo.json	spondylo camptodactyly syndrome|camptodactyly with cervical platyspondyly|spondylocamptodactyly	http://purl.obolibrary.org/obo/MONDO_0010801	http://identifiers.org/mesh/C535779|UMLS:C1838781|https://omim.org/entry/600000|Orphanet:3180|UMLS:C4274762|http://identifiers.org/snomedct/716231009	ordo_malformation_syndrome
MONDO:0010804	biolink:Disease	obsolete BRCATA		OMIM:600048	mondo.json	moved to 114480|BRCATA|breast cancer, 11-22 translocation-associated	http://purl.obolibrary.org/obo/MONDO_0010804	https://omim.org/entry/600048	
MONDO:0010803	biolink:Disease	Eiken syndrome	Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family.	OMIM:600002|UMLS:C1838779|MESH:C564010|DOID:0111732|Orphanet:79106|SCTID:720863002	mondo.json	Eiken syndrome|Eiken skeletal dysplasia|bone modeling defect of hands and feet	http://purl.obolibrary.org/obo/MONDO_0010803	http://identifiers.org/mesh/C564010|Orphanet:79106|UMLS:C1838779|DOID:0111732|https://omim.org/entry/600002|http://identifiers.org/snomedct/720863002	ordo_malformation_syndrome
MONDO:0010806	biolink:Disease	retinitis pigmentosa 13	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene.	GARD:0010388|DOID:0110403|ICD10CM:H35.5|UMLS:C1838702|MESH:C564008|OMIM:600059	mondo.json	retinitis pigmentosa caused by mutation in PRPF8|RP 13|retinitis pigmentosa type 13|RP13|retinitis pigmentosa 13|PRPF8 retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0010806	http://identifiers.org/mesh/C564008|DOID:0110403|UMLS:C1838702|https://omim.org/entry/600059	gard_rare
MONDO:0010805	biolink:Disease	bladder exstrophy	Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.	MESH:D001746|SCTID:61758007|DOID:0080174|NCIT:C123207|OMIM:600057|GARD:0006398|ICD9:753.5|Orphanet:93930|UMLS:C0005689|HP:0002836	mondo.json	bladder exstrophy|bladder exstrophy (disease)|exstrophy of the bladder|bladder exstrophy and epispadias Complex|exstrophy of bladder|ectopia vesicae|classic exstrophy of the bladder	http://purl.obolibrary.org/obo/MONDO_0010805	http://identifiers.org/snomedct/61758007|UMLS:C0005689|NCIT:C123207|Orphanet:93930|DOID:0080174|http://identifiers.org/mesh/D001746	ordo_clinical_subtype
HGNC:2263	biolink:NamedThing	COX15			mondo.json		http://identifiers.org/hgnc/2263		
HP:0002167	biolink:PhenotypicFeature	Neurological speech impairment		UMLS:C0037822|MSH:D013064	mondo.json	Speech impairment|Speech impediment|Speech disorder	http://purl.obolibrary.org/obo/HP_0002167		
HGNC:2260	biolink:NamedThing	COX10			mondo.json		http://identifiers.org/hgnc/2260		
CHR:9606-chr9q22.3	biolink:NamedThing	9q22.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr9q22.3		
NCBITaxon:39087	biolink:OrganismalEntity	Arvicolinae		GC_ID:1	mondo.json	Microtinae	http://purl.obolibrary.org/obo/NCBITaxon_39087		
HP:0002160	biolink:PhenotypicFeature	Hyperhomocystinemia	An increased concentration of homocystine in the blood.	UMLS:C3806347	mondo.json	Elevated blood homocystine|Homocystinemia	http://purl.obolibrary.org/obo/HP_0002160		
HP:0002164	biolink:PhenotypicFeature	Nail dysplasia	The presence of developmental dysplasia of the nail.	UMLS:C1834405	mondo.json	Dysplastic nails|Atypical nail growth|Onychodysplasia	http://purl.obolibrary.org/obo/HP_0002164		
NCBITaxon:693762	biolink:OrganismalEntity	Schizaeales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_693762		
GO:0030416	biolink:NamedThing	methylamine metabolic process	The chemical reactions and pathways involving methylamine (CH3NH2).		mondo.json	methylammonium metabolism|methylamine metabolism|methylammonium metabolic process	http://purl.obolibrary.org/obo/GO_0030416		
GO:0030414	biolink:NamedThing	peptidase inhibitor activity	Binds to and stops, prevents or reduces the activity of a peptidase, any enzyme that catalyzes the hydrolysis peptide bonds.		mondo.json	protease inhibitor activity	http://purl.obolibrary.org/obo/GO_0030414		
NCBITaxon:693766	biolink:OrganismalEntity	Anemiaceae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_693766		
CHEBI:137419	biolink:ChemicalSubstance	secondary ammonium ion	An organic cation obtained by protonation of any secondary amino compound; major species at pH 7.3.		mondo.json	a secondary amine|secondary amine(1+)	http://purl.obolibrary.org/obo/CHEBI_137419		
NCBITaxon:426455	biolink:OrganismalEntity	Rhipicephalus <subgenus>		GC_ID:1|PMID:14707501	mondo.json	Rhipicephalus|Rhipicephalus (Rhipicephalus)	http://purl.obolibrary.org/obo/NCBITaxon_426455		
NCBITaxon:426442	biolink:OrganismalEntity	Ixodinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_426442		
NCBITaxon:426441	biolink:OrganismalEntity	Amblyomminae		GC_ID:1	mondo.json	Eschatocephalinae	http://purl.obolibrary.org/obo/NCBITaxon_426441		
HGNC:4800	biolink:NamedThing	HSD17B10			mondo.json		http://identifiers.org/hgnc/4800		
HGNC:4801	biolink:NamedThing	HADHA			mondo.json		http://identifiers.org/hgnc/4801		
FOODON:00001301	biolink:NamedThing	has food substance analog			mondo.json		http://purl.obolibrary.org/obo/FOODON_00001301		
NCBITaxon:426439	biolink:OrganismalEntity	Haemaphysalinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_426439		
NCBITaxon:426438	biolink:OrganismalEntity	Hyalomminae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_426438		
NCBITaxon:426437	biolink:OrganismalEntity	Rhipicephalinae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_426437		
FOODON:00001304	biolink:NamedThing	food fermentation	A fermentation process in which either carbohydrates, proteins or fats are modified through microbial, enzymatic and/or other biological process.		mondo.json		http://purl.obolibrary.org/obo/FOODON_00001304		
HGNC:4803	biolink:NamedThing	HADHB			mondo.json		http://identifiers.org/hgnc/4803		
HGNC:4805	biolink:NamedThing	HAGH			mondo.json		http://identifiers.org/hgnc/4805		
HGNC:4806	biolink:NamedThing	HAL			mondo.json		http://identifiers.org/hgnc/4806		
HGNC:4814	biolink:NamedThing	KALRN			mondo.json		http://identifiers.org/hgnc/4814		
HGNC:4816	biolink:NamedThing	HARS1			mondo.json		http://identifiers.org/hgnc/4816		
HGNC:4817	biolink:NamedThing	HARS2			mondo.json		http://identifiers.org/hgnc/4817		
HP:0002102	biolink:PhenotypicFeature	Pleuritis	Inflammation of the pleura.	UMLS:C0032231|MSH:D010998|SNOMEDCT_US:196075003	mondo.json	Pleurisy|Inflammation of tissues lining lungs and chest	http://purl.obolibrary.org/obo/HP_0002102		
HP:0002103	biolink:PhenotypicFeature	Abnormal pleura morphology	An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.	UMLS:C4025726	mondo.json	Abnormality of the pleura	http://purl.obolibrary.org/obo/HP_0002103		
HP:0002104	biolink:PhenotypicFeature	Apnea	Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.	UMLS:C0003578|SNOMEDCT_US:1023001|SNOMEDCT_US:248583008|MSH:D001049	mondo.json	Apnoea|Apneic episodes|Absence of spontaneous respiration	http://purl.obolibrary.org/obo/HP_0002104		
HP:0002105	biolink:PhenotypicFeature	Hemoptysis	Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.	MSH:D006469|SNOMEDCT_US:66857006|UMLS:C0019079|SNOMEDCT_US:6686005	mondo.json	Coughing up blood|Haemoptysis|Coughing up blood or blood-stained mucus	http://purl.obolibrary.org/obo/HP_0002105		
HGNC:4823	biolink:NamedThing	HBA1			mondo.json		http://identifiers.org/hgnc/4823		
FOODON:00001327	biolink:NamedThing	pu dong	Pu dong is fermented crab		mondo.json		http://purl.obolibrary.org/obo/FOODON_00001327		
CHEBI:57869	biolink:ChemicalSubstance	6-aminopenicillanic acid zwitterion	Zwitterionic form of 6-aminopenicillanic acid arising from migration of a proton from the carboxy group to the 6-amino group; major species at pH 7.3.		mondo.json	(2S,5R,6R)-6-azaniumyl-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylate|6-aminopenicillanate|6-azaniumyl-2,2-dimethylpenam-3alpha-carboxylate	http://purl.obolibrary.org/obo/CHEBI_57869		
HGNC:4824	biolink:NamedThing	HBA2			mondo.json		http://identifiers.org/hgnc/4824		
HGNC:4827	biolink:NamedThing	HBB			mondo.json		http://identifiers.org/hgnc/4827		
CHEBI:33892	biolink:ChemicalSubstance	iron coordination entity			mondo.json	iron coordination entity|iron coordination entities|iron coordination compounds	http://purl.obolibrary.org/obo/CHEBI_33892		
CHEBI:33893	biolink:ChemicalSubstance	reagent	A substance used in a chemical reaction to detect, measure, examine, or produce other substances.		mondo.json	reagent|reactivo|reagents|reactif	http://purl.obolibrary.org/obo/CHEBI_33893		
HGNC:4832	biolink:NamedThing	HBG2			mondo.json		http://identifiers.org/hgnc/4832		
NCBITaxon:715340	biolink:OrganismalEntity	Pleosporineae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_715340		
CHEBI:33890	biolink:ChemicalSubstance	cobalt coordination entity			mondo.json	cobalt coordination entities|cobalt coordination entity|cobalt coordination compounds	http://purl.obolibrary.org/obo/CHEBI_33890		
CHEBI:18291	biolink:ChemicalSubstance	manganese atom			mondo.json	manganeso|25Mn|manganese|manganum|Mn|Manganese|manganese|Mangan	http://purl.obolibrary.org/obo/CHEBI_18291		
HGNC:4837	biolink:NamedThing	HCCS			mondo.json		http://identifiers.org/hgnc/4837		
HGNC:4838	biolink:NamedThing	SERPIND1			mondo.json		http://identifiers.org/hgnc/4838		
HGNC:4839	biolink:NamedThing	HCFC1			mondo.json		http://identifiers.org/hgnc/4839		
HGNC:4845	biolink:NamedThing	HCN1			mondo.json		http://identifiers.org/hgnc/4845		
MONDO:0020041	biolink:Disease	obsolete 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue		UMLS:CN227739|Orphanet:98086	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020041	Orphanet:98086|UMLS:CN227739	ordo_group_of_disorders
MONDO:0019052	biolink:Disease	inborn errors of metabolism	An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.	UMLS:C0025521|SCTID:86095007|NCIT:C34816|DOID:655|Orphanet:68367|MESH:D008661|MedDRA:10062018|MedDRA:10058097	mondo.json	inborn metabolism disorder|rare inherited metabolic disorder|inherited disorders of metabolism|rare metabolic disease|inborn disorders of metabolism|metabolic hereditary disorder|inherited disorder of metabolism|congenital metabolism disorder|hereditary metabolic disease|inborn errors of metabolism|inherited metabolic disorder|rare inborn errors of metabolism|inborn error of metabolism|congenital metabolic disorder|inborn metabolic disorder	http://purl.obolibrary.org/obo/MONDO_0019052	http://identifiers.org/snomedct/86095007|DOID:655|Orphanet:68367|UMLS:C0025521|http://identifiers.org/mesh/D008661|NCIT:C34816	disease_grouping|ordo_group_of_disorders
MONDO:0019051	biolink:Disease	obsolete lysosomal disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019051		
MONDO:0020040	biolink:Disease	46,XY disorder of sex development	Differences of sex development in individuals with 46,XY karyotype.	Orphanet:325706|GARD:0008538|UMLS:C2751824|MESH:D058490|SCTID:8234004|NCIT:C127171|Orphanet:98085	mondo.json	46, XY female|46,XY disorders of Sex development|46,XY differences of Sex development|46,XY DSD|46, XY DSD|XY female|46, XY disorders of sexual development	http://purl.obolibrary.org/obo/MONDO_0020040	NCIT:C127171|UMLS:C2751824|http://identifiers.org/mesh/D058490|http://identifiers.org/snomedct/8234004|Orphanet:98085	ordo_group_of_disorders|disease_grouping
MONDO:0019054	biolink:Disease	congenital limb malformation		Orphanet:68378	mondo.json	congenital limb malformation	http://purl.obolibrary.org/obo/MONDO_0019054	Orphanet:68378	ordo_group_of_disorders|disease_grouping
MONDO:0019053	biolink:Disease	peroxisomal disease	A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia.	DOID:906|NCIT:C85005|ICD9:277.86|Orphanet:68373|SCTID:238059005|ICD9:277.89|UMLS:C0282528	mondo.json	peroxisomal function disorder|peroxisomal disorder|disorder of peroxisomal function|peroxisomal disease	http://purl.obolibrary.org/obo/MONDO_0019053	http://identifiers.org/snomedct/238059005|UMLS:C0282528|Orphanet:68373|DOID:906|NCIT:C85005	disease_grouping|ordo_group_of_disorders
MONDO:0019050	biolink:Disease	inherited hemoglobinopathy	An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.	MedDRA:10060892|NCIT:C3092|GARD:0012455|ICD9:282.7|UMLS:C1960031|DOID:2860|MESH:D006453|UMLS:C0019045|ICD10CM:D58.1|ICD10CM:D58.0|SCTID:427306008|Orphanet:68364	mondo.json	Hemoglobinopathies / iron metabolism|hemoglobinopathies|hemoglobinopathy|hereditary hemoglobinopathy	http://purl.obolibrary.org/obo/MONDO_0019050	Orphanet:68364|UMLS:C0019045|http://identifiers.org/mesh/D006453|UMLS:C1960031|http://identifiers.org/snomedct/427306008|DOID:2860|NCIT:C3092	disease_grouping|ordo_group_of_disorders
PATO:0000125	biolink:NamedThing	mass	A physical quality that inheres in a bearer by virtue of the proportion of the bearer's amount of matter.		mondo.json		http://purl.obolibrary.org/obo/PATO_0000125		
MONDO:0020049	biolink:Disease	autosomal anomaly	Chromosomal disorder in which the chromosomal anomaly involves an autosome.	UMLS:CN227743|Orphanet:98127	mondo.json	autosome chromosomal anomaly|chromosomal anomaly of autosome	http://purl.obolibrary.org/obo/MONDO_0020049	Orphanet:98127|UMLS:CN227743	ordo_group_of_disorders|disease_grouping
MONDO:0020048	biolink:Disease	internal carotid agenesis	Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography.	SCTID:722004001|GARD:0003012|Orphanet:981	mondo.json	internal carotid artery agenesis|agenesis of the internal carotid artery	http://purl.obolibrary.org/obo/MONDO_0020048	http://identifiers.org/snomedct/722004001|Orphanet:981	ordo_morphological_anomaly|gard_rare
MONDO:0007069	biolink:Disease	obsolete Adie syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007069		
MONDO:0020047	biolink:Disease	autosomal recessive syndromic cerebellar ataxia		UMLS:CN227742|Orphanet:98099	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020047	Orphanet:98099|UMLS:CN227742	disease_grouping|ordo_group_of_disorders
MONDO:0020046	biolink:Disease	autosomal recessive degenerative and progressive cerebellar ataxia		UMLS:CN229259|Orphanet:98098	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020046	Orphanet:98098|UMLS:CN229259	disease_grouping|ordo_group_of_disorders
MONDO:0020045	biolink:Disease	obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect		UMLS:CN227741|Orphanet:98097	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020045	Orphanet:98097|UMLS:CN227741	ordo_group_of_disorders
MONDO:0007067	biolink:Disease	pyruvate kinase hyperactivity	Autosomal dominant phenotype characterized by increase of red blood cell ATP.	UMLS:C1863224|MESH:C566310|EFO:0005840|OMIM:102900	mondo.json	adenosine triphosphate, elevated, of erythrocytes|pyruvate kinase hyperactivity	http://purl.obolibrary.org/obo/MONDO_0007067	https://omim.org/entry/102900|UMLS:C1863224|http://identifiers.org/mesh/C566310	
MONDO:0007068	biolink:Disease	adenylosuccinate lyase deficiency	Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.	OMIM:103050|SCTID:15285008|ICD9:277.2|Orphanet:46|DOID:0050762|UMLS:C0268126|GARD:0000550|MESH:C538235	mondo.json	ADSL deficiency|inborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity disorder|rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|adenylosuccinase deficiency|inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|adenylosuccinase lyase deficiency|Adsl deficiency|ADSLD|adenylosuccinate lyase deficiency	http://purl.obolibrary.org/obo/MONDO_0007068	Orphanet:46|UMLS:C0268126|http://identifiers.org/mesh/C538235|https://omim.org/entry/103050|DOID:0050762|http://identifiers.org/snomedct/15285008	ordo_disease
MONDO:0020044	biolink:Disease	autosomal recessive metabolic cerebellar ataxia		UMLS:CN229258|Orphanet:98096	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020044	Orphanet:98096|UMLS:CN229258	disease_grouping|ordo_group_of_disorders
MONDO:0020043	biolink:Disease	autosomal recessive congenital cerebellar ataxia		Orphanet:98095	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020043	Orphanet:98095	disease_grouping|ordo_group_of_disorders
MONDO:0044014	biolink:Disease	postpartum thyroiditis	A transient autoimmune Inflammatory disorder of thyroid gland that occurs postpartum due to any partum problem. It is characterized by the presence of high titers of autoantibodies against thyroid peroxidase and thyroglobulin. Clinical signs include the triphasic thyroid hormone pattern: beginning with thyrotoxicosis, followed with hypothyroidism, then return to euthyroid state by 1 year postpartum	NCIT:C114389|SCTID:52772002|UMLS:C0271815|MESH:D050032	mondo.json	thyroiditis, postpartum|thyroiditides, postpartum|post partum thyroiditis|postpartum thyroiditides|post-partum thyroiditis|post-partum thyroiditides|postpartum thyroiditis|thyroiditides, post-partum|thyroiditis, post-partum	http://purl.obolibrary.org/obo/MONDO_0044014	UMLS:C0271815|http://identifiers.org/snomedct/52772002|NCIT:C114389|http://identifiers.org/mesh/D050032	
MONDO:0007065	biolink:Disease	obsolete adenosine deaminase, elevated, hemolytic anemia due to			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007065		
MONDO:0007066	biolink:Disease	adenosine triphosphatase deficiency, anemia due to		OMIM:102800|GARD:0000548|UMLS:C1863225|SCTID:725057008|MESH:C566311|Orphanet:1044	mondo.json	adenosine triphosphatase deficiency anemia|anemia due to adenosine triphosphatase deficiency|adenosine triphosphatase deficiency, anemia due to	http://purl.obolibrary.org/obo/MONDO_0007066	https://omim.org/entry/102800|UMLS:C1863225|http://identifiers.org/mesh/C566311|http://identifiers.org/snomedct/725057008	gard_rare
MONDO:0020042	biolink:Disease	obsolete syndrome with 46,XY disorder of sex development		Orphanet:98087|UMLS:CN206965	mondo.json	syndrome with 46,XY DSD	http://purl.obolibrary.org/obo/MONDO_0020042	UMLS:CN206965|Orphanet:98087	ordo_group_of_disorders
MONDO:0044013	biolink:Disease	puerperal disorder	Disorders or diseases associated with puerperium, the six-to-eight-week period immediately after parturition in humans.	UMLS:C0034040|SCTID:362973001|MESH:D011644	mondo.json	disorder, puerperal|postpartum disorder|disorders, puerperal|puerperal disorder|disorder of puerperium	http://purl.obolibrary.org/obo/MONDO_0044013	http://identifiers.org/mesh/D011644|UMLS:C0034040|http://identifiers.org/snomedct/362973001	
MONDO:0007063	biolink:Disease	obsolete long bone adamantinoma	OBSOLETE. A adamantinoma that involves the long bone.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0007063		
MONDO:0007064	biolink:Disease	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.	SCTID:44940001|MedDRA:10066367|GARD:0005748|ICD9:277.2|DOID:5810|Orphanet:277|MESH:C531816|NCIT:C3962|CSP:1560-6660|OMIM:102700|EFO:0009147	mondo.json	adenosine deaminase deficiency, partial|SCID due to ADA deficiency|severe combined immunodeficiency due to ADA deficiency, Autosomal recessive, Somatic mosaicism|SCID due to ADA deficiency, delayed onset|adenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicism|SCID due to ADA deficiency, late-onset|ADA-SCID|SCID due to adenosine deaminase deficiency|ADA|adenosine deaminase deficiency|ADA deficiency|severe combined immunodeficiency due to ADA deficiency|adenosine deaminase deficient severe combined immunodeficiency|severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency|SCID due to ADA deficiency, early-onset|partial ADA deficiency|severe combined immunodeficiency due to adenosine deaminase deficiency	http://purl.obolibrary.org/obo/MONDO_0007064	NCIT:C3962|http://identifiers.org/mesh/C531816|Orphanet:277|DOID:5810|http://identifiers.org/snomedct/44940001|https://omim.org/entry/102700	gard_rare|ordo_disease
MONDO:0007061	biolink:Disease	obsolete acylase, cobalt-activated		OMIM:102590	mondo.json	acylase, cobalt-activated	http://purl.obolibrary.org/obo/MONDO_0007061	https://omim.org/entry/102590	
MONDO:0007062	biolink:Disease	congenital absence/hypoplasia of fingers excluding thumb, unilateral	Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia).	OMIM:102650|GARD:0000377|MESH:C562417|Orphanet:973	mondo.json	adactylia unilateral|digits 2-5 hypodactyly, unilateral|digits 2-5 oligodactyly, unilateral|terminal transverse defects of hand, unilateral|adactylia, unilateral|Adactyly of hand, unilateral	http://purl.obolibrary.org/obo/MONDO_0007062	Orphanet:973|https://omim.org/entry/102650|http://identifiers.org/mesh/C562417	gard_rare|ordo_clinical_subtype
MONDO:0007060	biolink:Disease	spermatogenic failure 6	Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene.	OMIM:102530|DOID:0070167|SCTID:236818008	mondo.json	spermatogenic failure 6|SPATA16 azoospermia|spermatogenic failure type 6|SPGF6|azoospermia caused by mutation in SPATA16|globozoospermia|spermatozoa, round-headed|acrosome malformation of spermatozoa|round-headed spermatozoa	http://purl.obolibrary.org/obo/MONDO_0007060	https://omim.org/entry/102530|http://identifiers.org/snomedct/236818008|DOID:0070167	
MONDO:0020039	biolink:Disease	46,XX disorder of sex development induced by androgens excess		UMLS:CN227738|Orphanet:98078	mondo.json	46,XX DSD induced by androgens excess	http://purl.obolibrary.org/obo/MONDO_0020039	Orphanet:98078|UMLS:CN227738	disease_grouping|ordo_group_of_disorders
MONDO:0019059	biolink:Disease	obsolete rare parkinsonian disorder	OBSOLETE. Rare parkinsonian disorder.	Orphanet:68402	mondo.json	rare parkinsonian disorder|rare hypokinetic movement disorder	http://purl.obolibrary.org/obo/MONDO_0019059	Orphanet:68402	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0019056	biolink:Disease	neuromuscular disease	Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions	MESH:D009468|DOID:440|ICD9:358|Orphanet:68381|UMLS:C0027868|ICD9:358.9|MedDRA:10029323|EFO:1001902	mondo.json	neuromuscular disease|nerve and muscle disorder	http://purl.obolibrary.org/obo/MONDO_0019056	UMLS:C0027868|http://identifiers.org/mesh/D009468|DOID:440|Orphanet:68381	disease_grouping|ordo_group_of_disorders
MONDO:0019055	biolink:Disease	obsolete mitochondrial disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019055		
MONDO:0019058	biolink:Disease	obsolete neurometabolic disease		Orphanet:68385|UMLS:CN205539	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019058	Orphanet:68385|UMLS:CN205539	ordo_group_of_disorders
MONDO:0019057	biolink:Disease	obsolete rare constitutional aplastic anemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019057		
MONDO:0020030	biolink:Disease	obsolete rare genetic renal disease		Orphanet:98056|UMLS:CN206955	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020030	Orphanet:98056|UMLS:CN206955	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0019041	biolink:Disease	obsolete rare genetic inherited tumor		Orphanet:68336|UMLS:CN205525	mondo.json	rare genetic tumor	http://purl.obolibrary.org/obo/MONDO_0019041	Orphanet:68336|UMLS:CN205525	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0022693	biolink:Disease	cerebral calcification cerebellar hypoplasia		GARD:0001201	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022693		gard_rare
MONDO:0019040	biolink:Disease	chromosomal disorder	Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)	ICD9:758.89|DOID:0080014|SCTID:409709004|NCIT:C34470|ICD10CM:Q90-Q99|MESH:D025063|Orphanet:68335	mondo.json	disorder, chromosomal|disorders, chromosomal|autosomal chromosome disorder|disorders, chromosome|chromosome abnormality disorder|disorder, chromosome abnormality|disorder, chromosome|chromosome abnormality disorders|chromosome disorder, autosomal|chromosomal disease|chromosomal disorders|chromosome disorders, autosomal|autosomal chromosome disorders|chromosomal disorder|chromosome disorder	http://purl.obolibrary.org/obo/MONDO_0019040	http://purl.bioontology.org/ontology/ICD10CM/Q90-Q99|DOID:0080014|http://identifiers.org/mesh/D025063|NCIT:C34470|Orphanet:68335|http://identifiers.org/snomedct/409709004	ordo_group_of_disorders|disease_grouping
MONDO:0022694	biolink:Disease	cerebral calcifications opalescent teeth phosphaturia		GARD:0001202	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022694		gard_rare
MONDO:0019043	biolink:Disease	obsolete rare genetic skin disease		Orphanet:68346	mondo.json	rare genodermatosis	http://purl.obolibrary.org/obo/MONDO_0019043	Orphanet:68346	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0019042	biolink:Disease	multiple congenital anomalies/dysmorphic syndrome		Orphanet:68341	mondo.json	MCAHS	http://purl.obolibrary.org/obo/MONDO_0019042	Orphanet:68341	disease_grouping|ordo_group_of_disorders
MONDO:0022697	biolink:Disease	athetoid cerebral palsy	A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating.	DOID:0050672|SCTID:75019001|UMLS:C0270742|NCIT:C97169|ICD10CM:G80.3|SCTID:230780007|GARD:0010449	mondo.json	athetoid cerebral palsy|dyskinetic cerebral palsy|ADCP|athetoid dyskinetic cerebral palsy|cerebral palsy dyskinetic	http://purl.obolibrary.org/obo/MONDO_0022697	UMLS:C0270742|DOID:0050672|http://purl.bioontology.org/ontology/ICD10CM/G80.3|NCIT:C97169|http://identifiers.org/snomedct/75019001|http://identifiers.org/snomedct/230780007	gard_rare
MONDO:0022698	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0022698		
MONDO:0022699	biolink:Disease	cerebral palsy spastic hemiplegic		GARD:0010448	mondo.json	spastic hemiplegia cerebral palsy|spastic hemiplegic cerebral palsy	http://purl.obolibrary.org/obo/MONDO_0022699		gard_rare
MONDO:0020038	biolink:Disease	obsolete gonadal dysgenesis of gynecological interest		Orphanet:98074	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020038	Orphanet:98074	
PATO:0000136	biolink:NamedThing	closure	A morphological quality pertaining to the degree to which an object contains an opening, aperture, orifice or vent.		mondo.json		http://purl.obolibrary.org/obo/PATO_0000136		
MONDO:0020037	biolink:Disease	obsolete rare gynecological tumor	OBSOLETE. Rare female reproductive system neoplasm.	UMLS:CN206962|Orphanet:98063	mondo.json	rare gynaecological neoplasm|rare female reproductive system neoplasm|rare gynaecological cancer	http://purl.obolibrary.org/obo/MONDO_0020037	Orphanet:98063|UMLS:CN206962	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0020036	biolink:Disease	obsolete rare nervous system tumor	OBSOLETE. Rare nervous system cancer.	Orphanet:98062	mondo.json	rare nervous system cancer|rare nervous system neoplasm|nervous system rare tumor	http://purl.obolibrary.org/obo/MONDO_0020036	Orphanet:98062	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0020035	biolink:Disease	obsolete rare otorhinolaryngologic tumor		Orphanet:98061|UMLS:CN206960	mondo.json	rare ORL neoplasm|rare ORL tumor|rare ORL cancer	http://purl.obolibrary.org/obo/MONDO_0020035	Orphanet:98061|UMLS:CN206960	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0020034	biolink:Disease	obsolete rare respiratory tract neoplasm	OBSOLETE. Any of the forms of respiratory tract neoplasm that have a rare incidence.	Orphanet:98060|UMLS:CN206959	mondo.json	rare respiratory cancer|rare respiratory tract neoplasm|rare respiratory neoplasm|rare respiratory tumor	http://purl.obolibrary.org/obo/MONDO_0020034	Orphanet:98060|UMLS:CN206959	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0007078	biolink:Disease	pseudohypoparathyroidism type 1A	Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).	Orphanet:79443|GARD:0007486|GARD:0005770|UMLS:C2931404|ICD9:275.49|NCIT:C129721|SCTID:58833000|DOID:0080053|UMLS:C3494506|MESH:C537045|OMIM:103580	mondo.json	Albright hereditary osteodystrophy with multiple hormone resistance|Albright hereditary osteodystrophy-PHP syndrome Ia|Albright hereditary osteodystrophy|PHP 1A|PHP1A|pseudohypoparathyroidism type 1A|AHO-PHP syndrome Ia|pseudohypoparathyroidism Ia|pseudohypoparathyroidism, type IA|Albright's hereditary osteodystrophy|pseudohypoparathyroidism, type 1A|AHO	http://purl.obolibrary.org/obo/MONDO_0007078	http://identifiers.org/snomedct/58833000|http://identifiers.org/mesh/C537045|DOID:0080053|NCIT:C129721|UMLS:C3494506|https://omim.org/entry/103580|Orphanet:79443|UMLS:C2931404	gard_rare|ordo_disease
MONDO:0007079	biolink:Disease	alcohol dependence	Physical and psychological dependence on alcohol.	MESH:D019973|NCIT:C93040|MESH:D010610|ICD9:305.0|NCIT:C3325|KEGG:05034|ICD9:303.90|DOID:0050741|EFO:0003829|OMIM:103780|MESH:D000437|SCTID:66590003	mondo.json	alcohol dependence|Aerodigestive tract cancer, squamous cell, alcohol-related, protection against|alcoholism|alcohol dependence, protection against|alcohol dependence, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0007079	http://identifiers.org/snomedct/66590003|NCIT:C93040|DOID:0050741|https://omim.org/entry/103780	
MONDO:0020033	biolink:Disease	obsolete rare digestive tumor	OBSOLETE. Any of the forms of digestive system neoplasm that have a rare incidence.	Orphanet:98059|UMLS:CN206958	mondo.json	rare digestive neoplasm|rare digestive cancer|rare digestive system neoplasm	http://purl.obolibrary.org/obo/MONDO_0020033	Orphanet:98059|UMLS:CN206958	disease_grouping|obsoletion_candidate|ordo_group_of_disorders
MONDO:0020032	biolink:Disease	obsolete rare urinary tract tumor	OBSOLETE. Rare urinary system benign neoplasm.	Orphanet:98058|UMLS:CN206957	mondo.json	rare urinary tract neoplasm|rare urinary system neoplasm|rare urinary tract cancer	http://purl.obolibrary.org/obo/MONDO_0020032	Orphanet:98058|UMLS:CN206957	disease_grouping|obsoletion_candidate|ordo_group_of_disorders
MONDO:0007076	biolink:Disease	obsolete ocular albinism with sensorineural deafness			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007076		
MONDO:0022691	biolink:Disease	cerebello-olivary atrophy		GARD:0001198	mondo.json	Cerebelloolivary atrophy	http://purl.obolibrary.org/obo/MONDO_0022691		gard_rare
MONDO:0020031	biolink:Disease	obsolete rare tumor	OBSOLETE. Rare disease of cellular proliferation.	Orphanet:98057	mondo.json	rare neoplasm (disease)|rare disease of cellular proliferation|rare neoplasm	http://purl.obolibrary.org/obo/MONDO_0020031	Orphanet:98057	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0007077	biolink:Disease	Tietz syndrome	Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.	GARD:0007772|OMIM:103500|UMLS:C0391816|Orphanet:42665|SCTID:403805009|DOID:0090002|ICD9:270.2|MESH:C536919	mondo.json	albinism-deafness of Tietz|Tietz syndrome|hypopigmentation/deafness of Tietz|Tietz albinism-deafness syndrome|hypopigmentation-deafness syndrome|TADS	http://purl.obolibrary.org/obo/MONDO_0007077	http://identifiers.org/snomedct/403805009|UMLS:C0391816|DOID:0090002|http://identifiers.org/mesh/C536919|Orphanet:42665|https://omim.org/entry/103500	ordo_malformation_syndrome|gard_rare
MONDO:0007074	biolink:Disease	ainhum	Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation.	SCTID:38528001|UMLS:C0001860|GARD:0009512|HP:0031009|DOID:11329|NCIT:C84544|ICD9:136.0|MESH:D000387|ICD10CM:L94.6|OMIM:103400	mondo.json	Dactylolysis|spontaneous dactylolysis|ainhum (disease)|Dactylolysis spontanea|ainhum	http://purl.obolibrary.org/obo/MONDO_0007074	http://purl.bioontology.org/ontology/ICD10CM/L94.6|UMLS:C0001860|http://identifiers.org/mesh/D000387|http://identifiers.org/snomedct/38528001|https://omim.org/entry/103400|DOID:11329|NCIT:C84544	
MONDO:0007075	biolink:Disease	alacrima, congenital, autosomal dominant		MESH:C566307|OMIM:103420	mondo.json	alacrimia congenita|alacrimia congenita, autosomal dominant|alacrima, congenital	http://purl.obolibrary.org/obo/MONDO_0007075	http://identifiers.org/mesh/C566307|https://omim.org/entry/103420	
MONDO:0007072	biolink:Disease	ADULT syndrome	ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.	SCTID:720464003|MESH:C538052|OMIM:103285|DOID:0050601|Orphanet:978|GARD:0000384|UMLS:C1863204	mondo.json	acro dermato ungual lacrimal tooth syndrome|acro-dermato-ungual-lacrimal-tooth syndrome|acro-dermato-ungual-lacrimal-Tooth syndrome|acrodermatounguallacrimaltooth syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome|ADULT syndrome	http://purl.obolibrary.org/obo/MONDO_0007072	http://identifiers.org/mesh/C538052|DOID:0050601|http://identifiers.org/snomedct/720464003|Orphanet:978|https://omim.org/entry/103285|UMLS:C1863204	ordo_malformation_syndrome
MONDO:0007073	biolink:Disease	hypoglossia-hypodactyly syndrome	Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person.	ICD9:759.89|OMIM:103300|SCTID:35031005|GARD:0000068|Orphanet:989	mondo.json	aglossia adactylia|aglossia-adactylia|oromandibular limb hypoplasia|peromelia with micrognathia|Jussieu syndrome|aglossia-adactylia syndrome|Hanhart syndrome|peromelia with micrognathism|hypoglossia-hypodactylia|hypoglossia-hypodactylia syndrome	http://purl.obolibrary.org/obo/MONDO_0007073	http://identifiers.org/snomedct/35031005|Orphanet:989|https://omim.org/entry/103300	gard_rare|ordo_malformation_syndrome
MONDO:0007070	biolink:Disease	adiposis dolorosa	Adiposis dolorosa or Dercum's disease is characterised by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy.	Wikipedia:Adiposis_dolorosa|ICD9:272.8|Orphanet:36397|OMIM:103200|MESH:D000274|UMLS:C0001529|MedDRA:10001294|SCTID:71404003|GARD:0005750|EFO:1000667|DOID:3928|NCIT:C84540	mondo.json	adipose tissue rheumatism|Dercum's disease|lipomatosis dolorosa|Neurolipomatosis|adiposis dolorosa|Adiposalgia|Dercum disease	http://purl.obolibrary.org/obo/MONDO_0007070	UMLS:C0001529|http://identifiers.org/mesh/D000274|http://identifiers.org/snomedct/71404003|https://omim.org/entry/103200|DOID:3928|Orphanet:36397|NCIT:C84540	ordo_disease|gard_rare
MONDO:0007071	biolink:Disease	adrenocortical hypofunction, chronic primary congenital		UMLS:C0271740|SCTID:12427005|Orphanet:85138|OMIM:103230|ICD9:255.41|MESH:C562711	mondo.json	adrenocortical hypofunction, chronic primary congenital|Addison disease, congenital	http://purl.obolibrary.org/obo/MONDO_0007071	http://identifiers.org/snomedct/12427005|UMLS:C0271740|https://omim.org/entry/103230|http://identifiers.org/mesh/C562711	
MONDO:0020029	biolink:Disease	obsolete rare genetic cardiac disease	OBSOLETE. Rare genetic heart disease.	UMLS:CN206954|Orphanet:98054	mondo.json	rare genetic heart disease	http://purl.obolibrary.org/obo/MONDO_0020029	Orphanet:98054|UMLS:CN206954	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0020028	biolink:Disease	obsolete rare allergic respiratory disease	OBSOLETE. Rare respiratory allergy.	Orphanet:98052|UMLS:C1504369	mondo.json	rare respiratory allergy|rare allergic respiratory disease	http://purl.obolibrary.org/obo/MONDO_0020028	UMLS:C1504369|Orphanet:98052	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0019049	biolink:Disease	obsolete rare dystonia	OBSOLETE. Rare dystonia.	Orphanet:68363	mondo.json	rare dystonia|rare dystonia (disease)|rare dystonic disorder	http://purl.obolibrary.org/obo/MONDO_0019049	Orphanet:68363	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0019048	biolink:Disease	obsolete rare vascular disease	OBSOLETE. Any of the forms of vascular disease that have a rare incidence.	Orphanet:68362	mondo.json	rare vascular disease	http://purl.obolibrary.org/obo/MONDO_0019048	Orphanet:68362	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0019045	biolink:Disease	obsolete rare sleep disorder	OBSOLETE. A rare form of sleep disorder.	Orphanet:68354|MESH:D012893|MedDRA:10040984	mondo.json	rare sleep-wake disorder|rare sleep disorder|rare sleep wake disorder	http://purl.obolibrary.org/obo/MONDO_0019045	Orphanet:68354	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0019044	biolink:Disease	tumor of hematopoietic and lymphoid tissues		UMLS:CN205528|Orphanet:68347	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019044	Orphanet:68347|UMLS:CN205528	ordo_group_of_disorders|disease_grouping
MONDO:0019047	biolink:Disease	obsolete rare deafness	OBSOLETE. Any of the forms of hearing loss that have a rare incidence.	Orphanet:68361|UMLS:CN227564|NCIT:C36194	mondo.json	total deafness|complete deafness|rare hearing loss	http://purl.obolibrary.org/obo/MONDO_0019047	NCIT:C36194|UMLS:CN227564|Orphanet:68361	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0019046	biolink:Disease	leukodystrophy	Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.	NCIT:C61253|OMIMPS:312080|GARD:0006895|Orphanet:68356|MedDRA:10024381|UMLS:CN228461|UMLS:C0023520|DOID:0050987|DOID:0060786|SCTID:192781003|DOID:10579|ICD9:330.0	mondo.json	leukodystrophy, hypomyelinating|hypomyelinating leukoencephalopathy|HLD|hypomyelinating leukodystrophy	http://purl.obolibrary.org/obo/MONDO_0019046	DOID:0060786|DOID:10579|UMLS:CN228461|http://identifiers.org/snomedct/192781003|Orphanet:68356|NCIT:C61253|DOID:0050987|UMLS:C0023520|https://omim.org/phenotypicSeries/PS312080	ordo_group_of_disorders|gard_rare|disease_grouping|merged_class
MONDO:0019030	biolink:Disease	obsolete Acanthamoeba keratitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019030		
MONDO:0022682	biolink:Disease	cennamo gangemi syndrome		GARD:0001179	mondo.json	hydrocephalus cataract microphthalmos	http://purl.obolibrary.org/obo/MONDO_0022682		gard_rare
MONDO:0019032	biolink:Disease	X-linked intellectual disability with isolated growth hormone deficiency		Orphanet:67045|OMIM:300123|UMLS:C1848068|ICD10CM:E23.0	mondo.json	MRGH	http://purl.obolibrary.org/obo/MONDO_0019032	Orphanet:67045|UMLS:C1848068	ordo_clinical_subtype
MONDO:0019031	biolink:Disease	thrombocytopenia with congenital dyserythropoietic anemia	Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.	SCTID:722475006|Orphanet:67044|UMLS:C4302508	mondo.json	X-linked congenital dyserythropoietic anemia with thrombocytopenia|congenital dyserythropoietic anemia with thombocytopenia|XDAT	http://purl.obolibrary.org/obo/MONDO_0019031	http://identifiers.org/snomedct/722475006|Orphanet:67044|UMLS:C4302508	ordo_disease
MONDO:0022685	biolink:Disease	cerebellar agenesis		GARD:0001187	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022685		gard_rare
MONDO:0022687	biolink:Disease	cerebellar degeneration	Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders.	UMLS:C0154671|DOID:1443|GARD:0006019|NCIT:C84624|SCTID:95646004|SCTID:418143002|UMLS:C0262404|ICD9:331.9	mondo.json	cerebellum neurodegenerative disease|cerebral degeneration|cerebellar degeneration|Brain degeneration|cerebellar Degeneration|neurodegenerative disease of cerebellum	http://purl.obolibrary.org/obo/MONDO_0022687	http://identifiers.org/snomedct/95646004|UMLS:C0262404|DOID:1443|NCIT:C84624	gard_rare
MONDO:0007049	biolink:Disease	acroleukopathy, symmetric		MESH:C566322|UMLS:C1863342|OMIM:102000	mondo.json	acroleukopathy, symmetric	http://purl.obolibrary.org/obo/MONDO_0007049	https://omim.org/entry/102000|UMLS:C1863342|http://identifiers.org/mesh/C566322	
MONDO:0020027	biolink:Disease	obsolete rare allergic disease	OBSOLETE. Rare allergic hypersensitivity disease.	Orphanet:98050|UMLS:CN206951	mondo.json	rare allergic disease|rare allergic hypersensitivity disease|rare allergy	http://purl.obolibrary.org/obo/MONDO_0020027	Orphanet:98050|UMLS:CN206951	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0020026	biolink:Disease	obsolete rare female infertility	OBSOLETE. Rare female infertility.	Orphanet:98049|UMLS:CN227737	mondo.json	rare female infertility	http://purl.obolibrary.org/obo/MONDO_0020026	Orphanet:98049|UMLS:CN227737	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0044037	biolink:Disease	livedo reticularis	A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming.	UMLS:C0085642|SCTID:238772004|MESH:D054068	mondo.json	livedo racemosa|livedo reticularis	http://purl.obolibrary.org/obo/MONDO_0044037	http://identifiers.org/snomedct/238772004|http://identifiers.org/mesh/D054068|UMLS:C0085642	
PATO:0000146	biolink:NamedThing	temperature	A physical quality of the thermal energy of a system.		mondo.json		http://purl.obolibrary.org/obo/PATO_0000146		
MONDO:0007047	biolink:Disease	punctate palmoplantar keratoderma type III	Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later	GARD:0000133|MESH:C535653|DOID:0060362|EFO:1000758|OMIM:202550|UMLS:C0545044|OMIM:101850|GARD:0000125|Orphanet:38	mondo.json	collagenous plaques of hand and feet|rare form of Hirschsprung's disease|acrokeratoelastoidosis of Costa|PPKP3|punctate palmoplantar hyperkeratosis type 3|collagenous plaques of hands and feet|punctate palmoplantar keratoderma type 3|palmoplantar keratoderma, punctate type 3|NTIA|aganglionosis, total colonic|palmoplantar keratoderma, punctate type III|ake|acrokeratoelastoidosis|TIA|near-total intestinal aganglionosis|keratoderma, palmoplantar, punctate type 3	http://purl.obolibrary.org/obo/MONDO_0007047	http://identifiers.org/mesh/C535653|DOID:0060362|Orphanet:38|UMLS:C0545044|https://omim.org/entry/101850	ordo_disease
MONDO:0020025	biolink:Disease	obsolete rare male infertility	OBSOLETE. Rare male infertility.	Orphanet:98048	mondo.json	rare male infertility	http://purl.obolibrary.org/obo/MONDO_0020025	Orphanet:98048	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0020024	biolink:Disease	obsolete rare infertility	OBSOLETE. Rare infertility.	Orphanet:98047|UMLS:CN227735	mondo.json	rare infertility disorder|rare infertility	http://purl.obolibrary.org/obo/MONDO_0020024	Orphanet:98047|UMLS:CN227735	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0007048	biolink:Disease	acrokeratosis verruciformis	A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows.	ICD9:757.39|NCIT:C27519|EFO:1000666|OMIM:101900|UMLS:C0265971|Orphanet:79151|DOID:0050606|MedDRA:10069445|SCTID:400085009	mondo.json	AKV|AKV of Hopf|Hopf disease|acrokeratosis verruciformis|acrokeratosis verruciformis of Hopf	http://purl.obolibrary.org/obo/MONDO_0007048	NCIT:C27519|https://omim.org/entry/101900|http://identifiers.org/snomedct/400085009|DOID:0050606|UMLS:C0265971|Orphanet:79151	ordo_disease
MONDO:0007045	biolink:Disease	acrofacial dysostosis, Catania type	Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males.	DOID:0060384|OMIM:101805|GARD:0000494|SCTID:720419000|Orphanet:1786|MESH:C538182|UMLS:C2931762	mondo.json	Afd, Catania type|AFD Catania type|Opitz Mollica Sorge syndrome|acrofacial dysostosis, Catania type|Opitz-Caltabiano syndrome|acrofacial dysostosis Catania type	http://purl.obolibrary.org/obo/MONDO_0007045	DOID:0060384|UMLS:C2931762|https://omim.org/entry/101805|http://identifiers.org/mesh/C538182|http://identifiers.org/snomedct/720419000|Orphanet:1786	ordo_malformation_syndrome
MONDO:0020023	biolink:Disease	respiratory or mediastinal malformation		Orphanet:98045	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020023	Orphanet:98045	disease_grouping|ordo_group_of_disorders
MONDO:0007046	biolink:Disease	hereditary papulotranslucent acrokeratoderma	A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis.	DOID:0060360|UMLS:C1863343|OMIM:101840|EFO:1000708|MESH:C566323	mondo.json	acrokeratoderma, hereditary papulotranslucent	http://purl.obolibrary.org/obo/MONDO_0007046	DOID:0060360|https://omim.org/entry/101840|UMLS:C1863343|http://identifiers.org/mesh/C566323	
MONDO:0044033	biolink:Disease	posterior leukoencephalopathy syndrome	An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment.	EFO:1001804|SCTID:450886002|MESH:D054038|NCIT:C78598	mondo.json	leukoencephalopathy syndrome, Posterior|syndrome, Posterior leukoencephalopathy|syndromes, Posterior leukoencephalopathy|Posterior reversible encephalopathy syndrome|RPLE|reversible occipital parietal encephalopathy|reversible posterior leukoencephalopathy syndrome|leukoencephalopathy syndromes, Posterior|PRES|posterior reversible encephalopathy syndrome|reversible Posterior cerebral edema syndrome|reversible Posterior leukoencephalopathy syndrome	http://purl.obolibrary.org/obo/MONDO_0044033	http://identifiers.org/snomedct/450886002|NCIT:C78598|http://identifiers.org/mesh/D054038	
MONDO:0020022	biolink:Disease	central nervous system malformation		ICD10CM:Q00-Q07|MESH:D009421|Orphanet:98044	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020022	Orphanet:98044|http://identifiers.org/mesh/D009421|http://purl.bioontology.org/ontology/ICD10CM/Q00-Q07	disease_grouping|ordo_group_of_disorders
MONDO:0007043	biolink:Disease	Pfeiffer syndrome	Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.	SCTID:70410008|OMIM:101600|NCIT:C99100|MESH:D000168|Orphanet:710|GARD:0007380|UMLS:C0220658|DOID:14705	mondo.json	craniofacial-skeletal-Dermatologic dysplasia|ACS 5|acrocephalosyndactylia type V|Pfeiffer type acrocephalosyndactyly|type V Acrocephalosyndactyly|acrocephalosyndactyly type 5|Noack syndrome|ACS5|Pfeiffer syndrome|acrocephalosyndactyly type V|acrocephalosyndactyly, type 5	http://purl.obolibrary.org/obo/MONDO_0007043	UMLS:C0220658|https://omim.org/entry/101600|http://identifiers.org/snomedct/70410008|Orphanet:710|DOID:14705|NCIT:C99100	gard_rare|ordo_malformation_syndrome
MONDO:0020021	biolink:Disease	diaphragmatic or abdominal wall malformation		Orphanet:98043	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020021	Orphanet:98043	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0007044	biolink:Disease	acrodysostosis 1 with or without hormone resistance	An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding.	UMLS:C3276228|OMIM:101800|NCIT:C136464	mondo.json	acrodysostosis 1, with or without hormone resistance|acrodysostosis 1|ADOHR|ACRDYS1|acrodysostosis 1 with or without hormone resistance	http://purl.obolibrary.org/obo/MONDO_0007044	UMLS:C3276228|https://omim.org/entry/101800|NCIT:C136464	
MONDO:0020020	biolink:Disease	visceral malformation of the liver, biliary tract, pancreas or spleen		Orphanet:98041	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020020	Orphanet:98041	disease_grouping|ordo_group_of_disorders
MONDO:0007041	biolink:Disease	apert syndrome	Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.	UMLS:C0001193|SCTID:205258009|Orphanet:87|MESH:D000168|MedDRA:10002943|OMIM:101200|NCIT:C99099|GARD:0005833	mondo.json	syndactylic oxycephaly|type I Acrocephalosyndactyly|ACS 2|ACS 1|acrocephalosyndactyly type I|apert syndrome|acrocephalo-syndactyly type 1|acrocephalosyndactyly, type 2|apert-Crouzon disease|acrocephalosyndactyly type 1|acrocephalosyndactyly, type 1|Vogt Cephalodactyly|ACS1	http://purl.obolibrary.org/obo/MONDO_0007041	https://omim.org/entry/101200|Orphanet:87|http://identifiers.org/snomedct/205258009|UMLS:C0001193|http://identifiers.org/mesh/D000168|NCIT:C99099	ordo_malformation_syndrome
MONDO:0007042	biolink:Disease	Saethre-Chotzen syndrome	Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.	GARD:0007598|NCIT:C75034|OMIM:101400|SCTID:83015004|MESH:D000168|Orphanet:794|EFO:0007029|UMLS:C0175699|DOID:14768	mondo.json	Saethre-Chotzen syndrome with eyelid anomalies|Chotzen syndrome|ACS3|blepharophimosis, epicanthus inversus, and ptosis 3|Saethre-Chotzen syndrome|ACS 3|SCS|type III Acrocephalosyndactyly|acrocephalosyndactyly type 3|acrocephalosyndactyly type III|acrocephaly, skull asymmetry, and mild syndactyly|blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)|acrocephalo-syndactyly, type 3|acrocephalosyndactyly, type 3|Saethre-Chotzen syndrome with or without eyelid anomalies|blepharophimosis, epicanthus inversus, and ptosis 3, formerly	http://purl.obolibrary.org/obo/MONDO_0007042	https://omim.org/entry/101400|UMLS:C0175699|NCIT:C75034|http://identifiers.org/snomedct/83015004|Orphanet:794|DOID:14768	gard_rare|ordo_malformation_syndrome
PATO:0000141	biolink:NamedThing	structure	A morphology quality inhering in a bearer by virtue of the bearer's relative position, shape, arrangements and connectivity of an organism's various parts; the pattern underlying its form.		mondo.json	relational structural quality|conformation	http://purl.obolibrary.org/obo/PATO_0000141		
MONDO:0007040	biolink:Disease	Sakati-Nyhan syndrome	An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.	MESH:C537227|OMIM:101120|DOID:0060359|GARD:0000115|SCTID:403768004|UMLS:C1275079|Orphanet:3128	mondo.json	ACPS3|Sakati-Nyhan syndrome|acrocephalopolysyndactyly type 3|ACPS 3|ACPS with leg hypoplasia|Sakati syndrome|Sakati-Nyhan-Tisdale syndrome|acrocephalopolysyndactyly type III	http://purl.obolibrary.org/obo/MONDO_0007040	Orphanet:3128|http://identifiers.org/snomedct/403768004|http://identifiers.org/mesh/C537227|DOID:0060359|UMLS:C1275079|https://omim.org/entry/101120	gard_rare
PATO:0000140	biolink:NamedThing	position	A spatial quality inhering in a bearer by virtue of the bearer's spatial location relative to other objects in the vicinity.		mondo.json	relational spatial quality|location|placement	http://purl.obolibrary.org/obo/PATO_0000140		
MONDO:0020019	biolink:Disease	digestive tract malformation		Orphanet:98039	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020019	Orphanet:98039	disease_grouping|ordo_group_of_disorders
MONDO:0020018	biolink:Disease	cranial malformation		Orphanet:98038	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020018	Orphanet:98038	ordo_group_of_disorders|disease_grouping
MONDO:0020017	biolink:Disease	obsolete rare otorhinolaryngologic disease	OBSOLETE. Any of the forms of otorhinolaryngologic disease that have a rare incidence.	UMLS:CN206950|Orphanet:98036	mondo.json	rare head and neck disease|rare otorhinolaryngologic disease	http://purl.obolibrary.org/obo/MONDO_0020017	UMLS:CN206950|Orphanet:98036	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0019038	biolink:Disease	obsolete rare maxillo-facial surgical disease		Orphanet:68329|UMLS:CN205523	mondo.json	rare maxillofacial anomaly	http://purl.obolibrary.org/obo/MONDO_0019038	UMLS:CN205523|Orphanet:68329	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0019037	biolink:Disease	progressive supranuclear palsy	A rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia.	NCIT:C85028|SCTID:28978003|Orphanet:683|UMLS:C0038868|SCTID:192976002|MedDRA:10036813|GARD:0007471|ICD9:333.0|UMLS:CN205522|MESH:D013494|DOID:678	mondo.json	familial progressive supranuclear palsy (type)|progressive supranuclear ophthalmoplegia|Steele-Richardson-Olszewski syndrome|PSP syndrome|supranuclear palsy, progressive	http://purl.obolibrary.org/obo/MONDO_0019037	NCIT:C85028|UMLS:CN205522|http://identifiers.org/snomedct/192976002|http://identifiers.org/mesh/D013494|DOID:678|UMLS:C0038868|Orphanet:683	ordo_disease
GO:0030594	biolink:NamedThing	neurotransmitter receptor activity	Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity.		mondo.json		http://purl.obolibrary.org/obo/GO_0030594		
MONDO:0019039	biolink:Disease	obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect		UMLS:CN227563|Orphanet:68334	mondo.json	rare bleeding disorder due to a constitutional coagulation factors defect|rare coagulopathy due to a constitutional coagulation factors defect	http://purl.obolibrary.org/obo/MONDO_0019039	UMLS:CN227563|Orphanet:68334	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
GO:0030595	biolink:NamedThing	leukocyte chemotaxis	The movement of a leukocyte in response to an external stimulus.		mondo.json	immune cell chemotaxis|leucocyte chemotaxis	http://purl.obolibrary.org/obo/GO_0030595		
MONDO:0019034	biolink:Disease	accessory pancreas	Accessory pancreas is an asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen.	MESH:C536003|Orphanet:674|SCTID:79037006|GARD:0000454	mondo.json	pancreas accessorium	http://purl.obolibrary.org/obo/MONDO_0019034	http://identifiers.org/snomedct/79037006|http://identifiers.org/mesh/C536003|Orphanet:674	ordo_morphological_anomaly|gard_rare
MONDO:0019033	biolink:Disease	primary cutis verticis gyrata	Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG).	SCTID:51603000|UMLS:C0263417|GARD:0001643|Orphanet:671|ICD9:757.39	mondo.json	cutis verticis gyrata	http://purl.obolibrary.org/obo/MONDO_0019033	http://identifiers.org/snomedct/51603000|Orphanet:671|UMLS:C0263417	ordo_group_of_disorders|gard_rare|disease_grouping
GO:0030593	biolink:NamedThing	neutrophil chemotaxis	The directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding.		mondo.json		http://purl.obolibrary.org/obo/GO_0030593		
MONDO:0019036	biolink:Disease	amoebiasis due to free-living amoebae	Free-living amebae belonging to the genera Acanthamoeba, Balamuthia, Naegleria and Sappinia are important causes of disease in humans and animals. Naegleria fowleri produces an acute, and usually lethal, central nervous system (CNS) disease called primary amebic meningoencephalitis (PAM). Acanthamoeba spp. and Balamuthia mandrillaris are opportunistic free-living amebae capable of causing granulomatous amebic encephalitis (GAE) in individuals with compromised immune systems. Sappinia pedata has been implicated in a case of amebic encephalitis. Naegleria fowleri and Acanthamoeba spp., are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units.	GARD:0012650|UMLS:CN205519|Orphanet:68	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019036	UMLS:CN205519|Orphanet:68	ordo_disease|gard_rare
MONDO:0019035	biolink:Disease	pancreatoblastoma	Pancreatoblastoma is a rare malignant epithelial pancreatic neoplasm, most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting abdominal pain, jaundice, and weight loss/failure to thrive, and is characterized histologically by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests.	GARD:0004210|MESH:C537162|UMLS:C0334489|NCIT:C4265|EFO:1000446|DOID:6823|ONCOTREE:PB|Orphanet:677	mondo.json	PB|pancreatoblastoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0019035	NCIT:C4265|UMLS:C0334489|http://identifiers.org/mesh/C537162|DOID:6823|Orphanet:677	gard_rare|ordo_disease
MONDO:0022672	biolink:Disease	autosomal dominant cataract	A syndromic cataract that has autosomal dominant inheritance.	GARD:0001143	mondo.json	cataract congenital autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0022672		gard_rare
MONDO:0019021	biolink:Disease	obsolete pigmented villonodular synovitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019021		
MONDO:0022673	biolink:Disease	autosomal dominant non-nuclear cataract		MESH:C538284|OMIM:601286|GARD:0001144	mondo.json	cataract congenital dominant non nuclear|autosomal dominant nonnuclear polymorphic congenital cataract|cataract, Nonnuclear polymorphic congenital, autosomal dominant|cataract, polymorphic congenital|PCC|CCP	http://purl.obolibrary.org/obo/MONDO_0022673	http://identifiers.org/mesh/C538284	gard_rare
MONDO:0019020	biolink:Disease	PANDAS	PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders.	GARD:0007312|UMLS:CN205481|MESH:C537163|Orphanet:66624	mondo.json	pediatric autoimmune disorders associated with Streptococcus infections|pediatric autoimmune neuropsychiatric disorder associated with Streptococcus|pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections|pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections	http://purl.obolibrary.org/obo/MONDO_0019020	Orphanet:66624|UMLS:CN205481|http://identifiers.org/mesh/C537163	ordo_disease
MONDO:0022675	biolink:Disease	cataract skeletal anomalies		GARD:0001158	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022675		gard_rare
MONDO:0022676	biolink:Disease	obsolete cataract - glaucoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022676		
MONDO:0020016	biolink:Disease	obsolete rare neurologic disease with psychiatric involvement		UMLS:CN206949|Orphanet:98033	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020016	Orphanet:98033|UMLS:CN206949	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0010689	biolink:Disease	Charcot-Marie-Tooth disease X-linked recessive 4	X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.	GARD:0001240|DOID:0110212|OMIM:310490|SCTID:763400005|Orphanet:101078	mondo.json	CMT4X|Charcot-Marie-Tooth disease with deafness and intellectual disability|Cowchock syndrome, X-linked recessive|axonal motor sensory neuropathy with deafness and mental retardation|Charcot-Marie-Tooth disease, X-linked recessive, 4|cowchock syndrome|CMTX 4|Charcot-Marie-Tooth disease with deafness and mental retardation|NAMSD|Charcot-Marie-Tooth disease X-linked recessive type 4|neuropathy, axonal motor-sensory, with deafness and mental retardation|neuropathy, axonal motor-sensory with deafness and mental retardation|CMTX4|axonal motor sensory neuropathy with deafness and intellectual disability|NADMR|COWCK|neuropathy, axonal motor-sensory with deafness and intellectual disability|X-linked Charcot-Marie-Tooth disease type 4|neuropathy, axonal motor-sensory, with deafness and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010689	https://omim.org/entry/310490|http://identifiers.org/snomedct/763400005|DOID:0110212|Orphanet:101078	ordo_disease
MONDO:0020015	biolink:Disease	obsolete rare circulatory system disease	OBSOLETE. A rare form of cardiovascular disease.	Orphanet:98028|UMLS:CN206948	mondo.json	rare cardiovascular disease	http://purl.obolibrary.org/obo/MONDO_0020015	Orphanet:98028|UMLS:CN206948	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0007058	biolink:Disease	acropectorovertebral dysplasia	Acropectorovertebral dysplasia is a skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).	OMIM:102510|Orphanet:957|MESH:C566319|GARD:0000512|UMLS:C1863307|SCTID:720457000	mondo.json	acropectorovertebral dysplasia F form|acropectorovertebral dysplasia|ACRPV|F syndrome	http://purl.obolibrary.org/obo/MONDO_0007058	https://omim.org/entry/102510|http://identifiers.org/snomedct/720457000|UMLS:C1863307|http://identifiers.org/mesh/C566319|Orphanet:957	ordo_malformation_syndrome|gard_rare
MONDO:0020014	biolink:Disease	obsolete rare disease with odontological manifestation		UMLS:CN206947|Orphanet:98027	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020014	Orphanet:98027|UMLS:CN206947	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0007059	biolink:Disease	acrorenal syndrome	Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.	MESH:C563159|UMLS:CN206860|OMIM:102520|UMLS:C3495490|DOID:0060347|Orphanet:971|SCTID:720458005	mondo.json	acrorenal syndrome	http://purl.obolibrary.org/obo/MONDO_0007059	DOID:0060347|https://omim.org/entry/102520|http://identifiers.org/snomedct/720458005|UMLS:CN206860|UMLS:C3495490|Orphanet:971|http://identifiers.org/mesh/C563159	ordo_malformation_syndrome
MONDO:0020013	biolink:Disease	obsolete rare odontologic disease		UMLS:CN206946|Orphanet:98026	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020013	Orphanet:98026|UMLS:CN206946	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0007056	biolink:Disease	acroosteolysis	A condition that is characterized by degeneration of the distal phalanges.	MESH:D030981|NCIT:C35545|OMIM:102400|SCTID:27201004	mondo.json	acroosteolysis	http://purl.obolibrary.org/obo/MONDO_0007056	https://omim.org/entry/102400|http://identifiers.org/snomedct/27201004|NCIT:C35545|http://identifiers.org/mesh/D030981	
MONDO:0020012	biolink:Disease	obsolete systemic or rheumatic disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020012		
MONDO:0007057	biolink:Disease	acroosteolysis dominant type	Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.	ICD9:756.59|MESH:C537586|GARD:0000508|NCIT:C84745|Orphanet:955|DOID:2736|UMLS:C0917715|MESH:C531695|UMLS:C2930971|SCTID:63122002|OMIM:102500|MESH:C535663	mondo.json	serpentine fibula-polycystic kidneys syndrome|HJCYS|acroosteolysis with osteoporosis and changes in skull and mandible|serpentine fibula-polycystic kidney syndrome|Hajdu-Cheney syndrome|acrodentoosteodysplasia|Cheney syndrome|serpentine fibula polycystic kidney syndrome|Arthrodentoosteodysplasia	http://purl.obolibrary.org/obo/MONDO_0007057	https://omim.org/entry/102500|DOID:2736|NCIT:C84745|http://identifiers.org/snomedct/63122002|UMLS:C2930971|http://identifiers.org/mesh/C537586|UMLS:C0917715|Orphanet:955|http://identifiers.org/mesh/C535663	ordo_malformation_syndrome|gard_rare
MONDO:0020011	biolink:Disease	obsolete rare headache disorder	OBSOLETE. Rare headache disorder.	Orphanet:98022	mondo.json	rare headache|rare headache disorder	http://purl.obolibrary.org/obo/MONDO_0020011	Orphanet:98022	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0020010	biolink:Disease	infectious disorder of the nervous system	A infectious disease that involves the nervous system.	SCTID:128116006|UMLS:C0597039|ICD9:349.89|NCIT:C27590|Orphanet:98010	mondo.json	nervous system infectious disease|nervous system infectious disorder	http://purl.obolibrary.org/obo/MONDO_0020010	UMLS:C0597039|Orphanet:98010|http://identifiers.org/snomedct/128116006|NCIT:C27590	disease_grouping|ordo_group_of_disorders
MONDO:0007054	biolink:Disease	acromial dimples		UMLS:C1863321|OMIM:102350	mondo.json	acromial dimples|supraspinous fossae, congenital	http://purl.obolibrary.org/obo/MONDO_0007054	https://omim.org/entry/102350	
MONDO:0007055	biolink:Disease	acromicric dysplasia	Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.	DOID:0111243|GARD:0000007|Orphanet:969|SCTID:254090007|ICD9:756.59|MESH:C535662|OMIM:102370	mondo.json	acromicric dysplasia|ACMICD|acromicric skeletal dysplasia	http://purl.obolibrary.org/obo/MONDO_0007055	DOID:0111243|http://identifiers.org/snomedct/254090007|Orphanet:969|http://identifiers.org/mesh/C535662|https://omim.org/entry/102370	ordo_malformation_syndrome|gard_rare
MONDO:0010693	biolink:Disease	nystagmus 1, congenital, X-linked	Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene.	UMLS:C1839580|MESH:C537853|OMIM:310700|GARD:0002969	mondo.json	NYSTAGMUS 1, congenital, X-linked|nystagmus 1, congenital, X-linked|Nystagmus, infantile idiopathic, formerly|Nystagmus, infantile idiopathic|Nystagmus 1, infantile, X-linked|Nystagmus 1, congenital, X- linked|Xlpan|congenital nystagmus caused by mutation in FRMD7|Nystagmus, congenital motor, 1|NYS1|Nystagmus, infantile periodic alternating, X-linked|FRMD7 congenital nystagmus	http://purl.obolibrary.org/obo/MONDO_0010693	https://omim.org/entry/310700|UMLS:C1839580|http://identifiers.org/mesh/C537853	gard_rare
MONDO:0007052	biolink:Disease	growth hormone secreting pituitary adenoma 1		OMIM:102200|Orphanet:99725|GARD:0010959	mondo.json	Somatotrophinoma, familial|somatotropinoma, familial isolated|PAGH1|PITA1|pituitary adenoma, familial isolated|isolated familial somatotropinoma|pituitary adenoma, growth hormone-secreting, 1|pituitary adenoma predisposition|pituitary adenoma predisposition, autosomal dominant, somatic mutation|pituitary adenoma 1, multiple types|pituitary adenoma 1, multiple types, autosomal dominant, somatic mutation|pituitary adenoma, growth hormone-secreting, type 1|familial isolated pituitary adenoma syndrome|acromegaly due to pituitary adenoma 1	http://purl.obolibrary.org/obo/MONDO_0007052	https://omim.org/entry/102200	
PATO:0000150	biolink:NamedThing	texture	A morphologic quality inhering in a bearer by virtue of the bearer's relative size, organization and distribution of its surface elements or the representation or invention of the appearance of its surface; visual and tactile surface characteristics.		mondo.json		http://purl.obolibrary.org/obo/PATO_0000150		
MONDO:0007053	biolink:Disease	restless legs syndrome 1		MESH:C538443|UMLS:C3888109|GARD:0009709|OMIM:102300	mondo.json	restless legs syndrome, susceptibility to, 1|RLS1|acromelalgia, hereditary|Ekbom syndrome	http://purl.obolibrary.org/obo/MONDO_0007053	UMLS:C3888109|http://identifiers.org/mesh/C538443|https://omim.org/entry/102300	predisposition
MONDO:0010692	biolink:Disease	nuclear ribonucleic acid		OMIM:310650	mondo.json	nuclear ribonucleic acid|nRNA	http://purl.obolibrary.org/obo/MONDO_0010692	https://omim.org/entry/310650	
MONDO:0007050	biolink:Disease	acromegaloid changes, cutis verticis gyrata, and corneal leukoma		Orphanet:964|GARD:0000500|UMLS:CN225973|OMIM:102100|MESH:C535654	mondo.json	acromegaloid changes, cutis verticis gyrata and corneal leukoma|Rosenthal-Kloepfer syndrome|acromegaloid changes, cutis verticis gyrata, and corneal leukoma|acromegaly-cutis verticis gyrata-corneal leukoma syndrome	http://purl.obolibrary.org/obo/MONDO_0007050	UMLS:CN225973|http://identifiers.org/mesh/C535654|https://omim.org/entry/102100	gard_rare
MONDO:0010695	biolink:Disease	occipital hair, white lock of		OMIM:310900	mondo.json	occipital hair, white lock of	http://purl.obolibrary.org/obo/MONDO_0010695	https://omim.org/entry/310900	
MONDO:0007051	biolink:Disease	acromegaloid facial appearance syndrome	Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome.	SCTID:720456009|GARD:0000501|UMLS:C0796280|MESH:C535655|Orphanet:965|OMIM:102150	mondo.json	AFA syndrome|acromegaloid facial appearance syndrome|thick lips and oral mucosa	http://purl.obolibrary.org/obo/MONDO_0007051	http://identifiers.org/snomedct/720456009|UMLS:C0796280|Orphanet:965|https://omim.org/entry/102150|http://identifiers.org/mesh/C535655	gard_rare|ordo_malformation_syndrome
MONDO:0010694	biolink:Disease	nystagmus, myoclonic		GARD:0009605|MESH:C564088|UMLS:C1839579|OMIM:310800	mondo.json	nystagmus, myoclonic|myoclonic nystagmus	http://purl.obolibrary.org/obo/MONDO_0010694	https://omim.org/entry/310800|UMLS:C1839579|http://identifiers.org/mesh/C564088	gard_rare
MONDO:0020009	biolink:Disease	obsolete rare neurologic disease	OBSOLETE. Rare nervous system disease.	UMLS:CN206943|Orphanet:98006	mondo.json	rare nervous system disorder|rare nervous system disease	http://purl.obolibrary.org/obo/MONDO_0020009	UMLS:CN206943|Orphanet:98006	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0010697	biolink:Disease	ophthalmoplegia, external, and myopia		UMLS:C1839577|OMIM:311000|MESH:C564087	mondo.json	ophthalmoplegia, external, and myopia|OPEM|myopia-ophthalmoplegia syndrome	http://purl.obolibrary.org/obo/MONDO_0010697	http://identifiers.org/mesh/C564087|UMLS:C1839577|https://omim.org/entry/311000	
MONDO:0010696	biolink:Disease	omphalocele, X-linked		OMIM:310980|UMLS:C3275625	mondo.json	omphalocele, X-linked	http://purl.obolibrary.org/obo/MONDO_0010696	https://omim.org/entry/310980|UMLS:C3275625	
MONDO:0020008	biolink:Disease	obsolete rare immune disease	OBSOLETE. Rare immune system disease.	UMLS:CN206942|Orphanet:98004	mondo.json	rare immune system disease	http://purl.obolibrary.org/obo/MONDO_0020008	UMLS:CN206942|Orphanet:98004	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0010699	biolink:Disease	Charcot-Marie-Tooth disease X-linked recessive 5	X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.	Orphanet:99014|DOID:0110210|OMIM:311070|UMLS:C1839566|GARD:0000114|SCTID:763460007	mondo.json	optic atrophy, sensorineural hearing loss and polyneuropathy|CMT5X|Charcot-Marie-Tooth disease, X-linked recessive, type 5|optic atrophy, polyneuropathy, and deafness|Charcot-Marie-Tooth neuropathy X type 5|CMTX5|Charcot-Marie-Tooth disease, X-linked recessive, 5|Charcot-Marie-Tooth disease X-linked recessive type 5|Charcot-Marie-Tooth neuropathy, X-linked recessive, 5|familial opticoacoustic nerve degeneration and polyneuropathy|Charcot-Marie-Tooth disease, X-linked recessive, 5, X-linked recessive|X-linked Charcot-Marie-Tooth disease type 5|Charcot-Marie-Tooth neuropathy X-linked recessive 5|Rosenberg-Chutorian syndrome	http://purl.obolibrary.org/obo/MONDO_0010699	Orphanet:99014|http://identifiers.org/snomedct/763460007|UMLS:C1839566|DOID:0110210|https://omim.org/entry/311070	clingen|gard_rare|ordo_disease
MONDO:0020007	biolink:Disease	absence of the pulmonary artery	Unilateral absence of the pulmonary artery (UAPA) is a rare congenital great vessels anomaly that commonly presents by dyspnea, frequent respiratory infections, hemoptysis and high-altitude pulmonary edema. UAPA is often associated with congenital heart malformation (CHM). In the absence of associated cardiac malformation (isolated UAPA; IUAPA), the condition may be asymptomatic until adult age.	Orphanet:980|UMLS:CN206941	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020007	UMLS:CN206941|Orphanet:980	ordo_morphological_anomaly
MONDO:0010698	biolink:Disease	optic atrophy 2	A rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.	Orphanet:98890|SCTID:721200000|GARD:0010199|MESH:C537125|OMIM:311050|DOID:0111443|UMLS:C1839576	mondo.json	optic atrophy, non-Leber type, with early onset|optic atrophy type 2|non-Leber type optic atrophy with early-onset|optic atrophy, X-linked|OPA2|optic atrophy 2|optic atrophy 2, X-linked	http://purl.obolibrary.org/obo/MONDO_0010698	http://identifiers.org/mesh/C537125|UMLS:C1839576|Orphanet:98890|http://identifiers.org/snomedct/721200000|DOID:0111443|https://omim.org/entry/311050	ordo_disease
MONDO:0020006	biolink:Disease	obsolete rare hematologic disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020006		
MONDO:0019027	biolink:Disease	otopalatodigital syndrome	A form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders.	GARD:0007293|UMLS:CN205496|Orphanet:669|SCTID:767130007	mondo.json	type 2 (Andre syndrome)|oto-palatal-digital syndrome|oto-palato-digital syndrome	http://purl.obolibrary.org/obo/MONDO_0019027	http://identifiers.org/snomedct/767130007|UMLS:CN205496	ordo_malformation_syndrome
MONDO:0019026	biolink:Disease	autosomal recessive osteopetrosis	An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration.	Orphanet:667|SCTID:367489004|NCIT:C129733|OMIMPS:259700	mondo.json	autosomal recessive malignant osteopetrosis|osteopetrosis (disease), autosomal recessive|autosomal recessive osteopetrosis|infantile malignant osteopetrosis|OPTB|autosomal recessive osteopetrosis (disease)|malignant osteopetrosis	http://purl.obolibrary.org/obo/MONDO_0019026	http://identifiers.org/snomedct/367489004|https://omim.org/phenotypicSeries/PS259700|NCIT:C129733|Orphanet:667	ordo_malformation_syndrome
MONDO:0019029	biolink:Disease	segmental odontomaxillary dysplasia	Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur.	Orphanet:67039|ICD9:524.89|SCTID:699756005	mondo.json	SOD	http://purl.obolibrary.org/obo/MONDO_0019029	Orphanet:67039|http://identifiers.org/snomedct/699756005	ordo_disease
MONDO:0019028	biolink:Disease	amoebiasis due to Entamoeba histolytica	A parasitic disease caused by the protozoa, Entamoeba histolytica, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare.	Orphanet:67|MESH:C531613|UMLS:C2930799	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019028	Orphanet:67|UMLS:C2930799|http://identifiers.org/mesh/C531613	ordo_disease
MONDO:0019023	biolink:Disease	cutaneous mastocytosis	Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis.	ICDO:9740/1|GARD:0007842|OMIM:154800|MESH:D034701|NCIT:C7137|UMLS:C1136033|ONCOTREE:CMCD|EFO:1000886|SCTID:397012002|HP:0200151|Orphanet:66646|DOID:3663	mondo.json	CMCD|mastocytosis, cutaneous|cutaneous mastocytosis|CM|mastocytosis, systemic, somatic|cutaneous (skin) mastocytosis|cutaneous mastocytosis (disease)	http://purl.obolibrary.org/obo/MONDO_0019023	DOID:3663|Orphanet:66646|http://identifiers.org/snomedct/397012002|http://identifiers.org/mesh/D034701|UMLS:C1136033|https://omim.org/entry/154800|NCIT:C7137	ordo_group_of_disorders|disease_grouping
NCBITaxon:499556	biolink:OrganismalEntity	Chapare mammarenavirus		GC_ID:1	mondo.json	Chapare virus	http://purl.obolibrary.org/obo/NCBITaxon_499556		
MONDO:0019022	biolink:Disease	sensorineural hearing loss-early graying-essential tremor syndrome	Sensorineural hearing loss-early graying-essential tremor syndrome is characterised by the combination of sensorineural hearing loss, early greying of scalp hair and adult onset essential tremor.	Orphanet:66633|UMLS:CN205488	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019022	Orphanet:66633|UMLS:CN205488	ordo_malformation_syndrome
MONDO:0019025	biolink:Disease	extracutaneous mastocytoma	A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003	ICDO:9740/1|UMLS:C0272202|Orphanet:66662|EFO:1000932|NCIT:C7136|DOID:4659|SCTID:63175003	mondo.json	extracutaneous mastocytoma	http://purl.obolibrary.org/obo/MONDO_0019025	Orphanet:66662|UMLS:C0272202|http://identifiers.org/snomedct/63175003|DOID:4659|NCIT:C7136	ordo_disease
MONDO:0010691	biolink:Disease	Norrie disease	A rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.	Orphanet:649|NCIT:C118634|OMIM:310600|MESH:C537849|MedDRA:10069760|ICD9:743.8|GARD:0007224|SCTID:15228007|ICD10CM:H35.5|DOID:0060844	mondo.json	ND|Norrie syndrome|Norrie disease, X-linked recessive|Episkopi blindness|fetal iritis syndrome|atrophia bulborum hereditaria|Norrie-Warburg syndrome|NDP|Anderson-Warburg syndrome|pseudoglioma|Norrie-Warburg disease|Norrie disease|nd	http://purl.obolibrary.org/obo/MONDO_0010691	NCIT:C118634|http://identifiers.org/snomedct/15228007|Orphanet:649|http://identifiers.org/mesh/C537849|DOID:0060844|https://omim.org/entry/310600	ordo_malformation_syndrome|gard_rare
MONDO:0019024	biolink:Disease	mast cell sarcoma	A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)	UMLS:C0036221|ONCOTREE:MCSL|DOID:355|Orphanet:66661|MESH:D012515|SCTID:118615008|ICD9:202.6|EFO:1000364|NCIT:C9348|ICDO:9740/3	mondo.json	sarcoma of mast cell|mast cell sarcoma|MCSL|mast-cell sarcoma|MCS	http://purl.obolibrary.org/obo/MONDO_0019024	Orphanet:66661|NCIT:C9348|DOID:355|http://identifiers.org/snomedct/118615008|http://identifiers.org/mesh/D012515|UMLS:C0036221	ordo_disease
MONDO:0010690	biolink:Disease	congenital stationary night blindness 1A	A congenital stationary night blindness caused by variants in the X-linked NYX gene.	OMIM:310500|DOID:0110870	mondo.json	NYX-related congenital stationary night blindness|nyctalopia|night blindness, congenital stationary (complete), 1A, X-linked, X-linked recessive|hemeralopia-myopia|NYX congenital stationary night blindness|congenital stationary night blindness 1A|night blindness, congenital stationary, type 1A|congenital stationary night blindness caused by mutation in NYX|myopia-night blindness|CSNB1A|congenital stationary night blindness with myopia|complete CSNB X-linked|NBMI|congenital stationary night blindness 1A X-linked|congenital stationary night blindness type 1A|CSNB, complete, X-linked|night blindness, congenital stationary, with myopia	http://purl.obolibrary.org/obo/MONDO_0010690	DOID:0110870|https://omim.org/entry/310500	
MONDO:0019096	biolink:Disease	obsolete rare pulmonary hypertension	OBSOLETE. Rare pulmonary hypertension.	UMLS:CN227571|Orphanet:71198	mondo.json	rare pulmonary hypertension	http://purl.obolibrary.org/obo/MONDO_0019096	Orphanet:71198|UMLS:CN227571	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0020085	biolink:Disease	obsolete mastocytosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020085		
MONDO:0019095	biolink:Disease	plague	Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis.	SCTID:58750007|MedDRA:10061416|DOID:3482|ICD9:136.8|NCIT:C85015|ICD9:020|UMLS:C0032064|Orphanet:707|MESH:D010930|ICD10CM:A20|MedDRA:10035148|MESH:D015009|ICD9:020.9	mondo.json	black death|infection by Yersinia pestis|plague|Yersiniosis|pestilential fever|pest	http://purl.obolibrary.org/obo/MONDO_0019095	http://purl.bioontology.org/ontology/ICD10CM/A20|Orphanet:707|http://identifiers.org/snomedct/58750007|DOID:3482|NCIT:C85015|http://identifiers.org/mesh/D010930|UMLS:C0032064	ordo_disease
MONDO:0020084	biolink:Disease	lymphoproliferative disease associated with primary immune disease		Orphanet:98291|UMLS:CN206986	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020084	UMLS:CN206986|Orphanet:98291	disease_grouping|ordo_group_of_disorders
MONDO:0020083	biolink:Disease	immunodeficiency-associated lymphoproliferative disease		Orphanet:98290|UMLS:CN206985	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020083	UMLS:CN206985|Orphanet:98290	disease_grouping|ordo_group_of_disorders
MONDO:0019098	biolink:Disease	autoimmune thrombocytopenia	An autoimmune form of thrombocytopenia.	SCTID:128091003|MedDRA:10050245|UMLS:C0242584|Orphanet:71203	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019098	Orphanet:71203|UMLS:C0242584|http://identifiers.org/snomedct/128091003	disease_grouping|ordo_group_of_disorders
MONDO:0020082	biolink:Disease	dendritic cell tumor	A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise. The symptoms and severity of the condition depend on the subtype and location of the tumor. Treatment may include surgery, radiation therapy, and/or chemotherapy.	SCTID:737223000|NCIT:C27260|UMLS:CN206984|GARD:0008317|Orphanet:98289	mondo.json	Dendritic cell tumor, NOS|Dendritic cell sarcoma, Not otherwise specified|Dendritic cell sarcoma, NOS|Dendritic cell neoplasm|Dendritic cell tumor, Not otherwise specified	http://purl.obolibrary.org/obo/MONDO_0020082	UMLS:CN206984|Orphanet:98289|http://identifiers.org/snomedct/737223000	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0019097	biolink:Disease	obsolete hemorrhagic disorder due to a constitutional platelet anomaly	OBSOLETE. A hemorrhagic disorder due to a platelet anomaly which occurs from birth.	UMLS:CN227572|Orphanet:71202	mondo.json	rare hemorrhagic disorder due to a constitutional platelet anomaly|rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia|rare bleeding disorder due to a constitutional platelet anomaly|rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia|rare coagulopathy due to a constitutional platelet anomaly|rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0019097	Orphanet:71202|UMLS:CN227572	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0020081	biolink:Disease	macrophage or histiocytic tumor		UMLS:CN206983|Orphanet:98288	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020081	UMLS:CN206983|Orphanet:98288	ordo_group_of_disorders|disease_grouping
MONDO:0019092	biolink:Disease	infantile apnea	Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea.	GARD:0006779|Orphanet:70590|UMLS:C0745261|UMLS:CN205590|SCTID:724229002	mondo.json	apnea of infancy	http://purl.obolibrary.org/obo/MONDO_0019092	UMLS:C0745261|Orphanet:70590|UMLS:CN205590|http://identifiers.org/snomedct/724229002	ordo_disease
MONDO:0019091	biolink:Disease	bronchopulmonary dysplasia	Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.	SCTID:67569000|GARD:0005962|MedDRA:10006475|MESH:D001997|UMLS:C0006287|Orphanet:70589|NCIT:C90599	mondo.json	BPD	http://purl.obolibrary.org/obo/MONDO_0019091	UMLS:C0006287|NCIT:C90599|Orphanet:70589|http://identifiers.org/snomedct/67569000|http://identifiers.org/mesh/D001997	ordo_malformation_syndrome|gard_rare
MONDO:0020080	biolink:Disease	obsolete histiocytic and dendritic cell tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020080		
MONDO:0019094	biolink:Disease	congenital Epstein-Barr virus infection	Congenital Epstein-Barr virus (EBV) infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection.	Orphanet:70596|UMLS:C4274357|SCTID:716660007	mondo.json	congenital EBV infection|antenatal Epstein-Barr virus infection|antenatal EBV infection|mother-to-child transmission of Epstein-Barr virus infection	http://purl.obolibrary.org/obo/MONDO_0019094	Orphanet:70596|http://identifiers.org/snomedct/716660007|UMLS:C4274357	ordo_disease
MONDO:0019093	biolink:Disease	immunodeficiency due to selective anti-polysaccharide antibody deficiency	Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR).	SCTID:234556002|Orphanet:70593|GARD:0011903|UMLS:C0398711	mondo.json	specific antibody deficiency	http://purl.obolibrary.org/obo/MONDO_0019093	Orphanet:70593|http://identifiers.org/snomedct/234556002|UMLS:C0398711	ordo_disease
MONDO:0019090	biolink:Disease	obsolete meconium aspiration syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019090		
MONDO:0020089	biolink:Disease	acquired lipodystrophy	An instance of lipodystrophy (disease) that is acquired during the lifetime of the individual.	MedDRA:10049287|UMLS:C0877192|Orphanet:98307	mondo.json	acquired lipodystrophy (disease)	http://purl.obolibrary.org/obo/MONDO_0020089	UMLS:C0877192|Orphanet:98307	disease_grouping|ordo_group_of_disorders
MONDO:0020088	biolink:Disease	familial partial lipodystrophy	Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.	DOID:0050440|OMIMPS:151660|NCIT:C84708|MESH:D052496|Orphanet:98306|GARD:0011962|SCTID:49292002|UMLS:C0271694	mondo.json	Koberling-Dunnigan syndrome|FPLD|lipodystrophy, familial partial|congenital partial lipodystrophy|genetic partial lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0020088	http://identifiers.org/mesh/D052496|NCIT:C84708|UMLS:C0271694|Orphanet:98306|http://identifiers.org/snomedct/49292002|https://omim.org/phenotypicSeries/PS151660|DOID:0050440	disease_grouping|ordo_group_of_disorders
MONDO:0020087	biolink:Disease	genetic lipodystrophy	Genetic lipodystrophy.	UMLS:C4511302|SCTID:724841000|Orphanet:98305	mondo.json	genetic lipodystrophy|genetic lipodystrophy (disease)	http://purl.obolibrary.org/obo/MONDO_0020087	UMLS:C4511302|http://identifiers.org/snomedct/724841000|Orphanet:98305	disease_grouping|ordo_group_of_disorders
MONDO:0020086	biolink:Disease	obsolete idiopathic interstitial pneumonia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020086		
MONDO:0019099	biolink:Disease	obsolete rare soft tissue tumor	OBSOLETE. Any of the forms of soft tissue neoplasm that have a rare incidence.	Orphanet:71209	mondo.json	rare soft tissue neoplasm|rare mesenchymal tumor	http://purl.obolibrary.org/obo/MONDO_0019099	Orphanet:71209	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0020074	biolink:Disease	progressive myoclonus epilepsy	A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system.	OMIMPS:254800|DOID:891|MESH:D020191|Orphanet:98261|SCTID:267581004|GARD:0007140|UMLS:C0751778|NCIT:C7636	mondo.json	progressive myoclonus epilepsy|familial progressive myoclonic epilepsy|progressive myoclonic epilepsy|progressive myoclonic epilepsy (disorder) [ambiguous]|epilepsy, progressive myoclonic|PME	http://purl.obolibrary.org/obo/MONDO_0020074	UMLS:C0751778|NCIT:C7636|http://identifiers.org/mesh/D020191|Orphanet:98261|DOID:891|https://omim.org/phenotypicSeries/PS254800|http://identifiers.org/snomedct/267581004	ordo_group_of_disorders|disease_grouping
MONDO:0019085	biolink:Disease	vernal keratoconjunctivitis	Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affectsthe surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name 'vernal') and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; andinvoluntary blinking or spasms of the eyelid (blepharospasm).The condition usually subsides at the onset of puberty. It is caused by ahypersensitivity (allergic reaction)to airborne-allergens. Management focuses on preventing 'flare ups' and relieving the symptoms of the condition.	Orphanet:70476|GARD:0007854|SCTID:317349009|UMLS:C0022577|ICD10CM:H16.2	mondo.json	Spring catarrh|VKC	http://purl.obolibrary.org/obo/MONDO_0019085	Orphanet:70476|UMLS:C0022577|http://identifiers.org/snomedct/317349009	ordo_disease|gard_rare
MONDO:0020073	biolink:Disease	adolescent-onset epilepsy syndrome		Orphanet:98260|UMLS:CN206977	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020073	UMLS:CN206977|Orphanet:98260	disease_grouping|ordo_group_of_disorders
MONDO:0019084	biolink:Disease	radiation proctitis	Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis.	Orphanet:70475|MedDRA:10037766|SCTID:235760009|ICD9:569.49|ICD10CM:K62.7	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019084	Orphanet:70475|http://identifiers.org/snomedct/235760009|http://purl.bioontology.org/ontology/ICD10CM/K62.7	ordo_disease
MONDO:0020072	biolink:Disease	childhood-onset epilepsy syndrome	A epilepsy syndrome that occurs during childhood.	UMLS:CN206976|Orphanet:98259	mondo.json	epilepsy syndrome of childhood|childhood epilepsy syndrome|pediatric epilepsy syndrome|childhood-onset epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0020072	UMLS:CN206976|Orphanet:98259	ordo_group_of_disorders|disease_grouping
MONDO:0019087	biolink:Disease	cholangiocarcinoma	A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor.	ICDO:8160/3|NCIT:C4436|SCTID:312104005|ONCOTREE:CHOL|MESH:D018281|GARD:0009304|EFO:0005221|UMLS:C0206698|MedDRA:10004593|DOID:4947|MedDRA:10008593|Orphanet:70567	mondo.json	Cholangiocar.- intra/extrahepatic|cholangiosarcoma|cholangiocarcinoma, malignant|intrahepatic bile duct cancer (cholangiocarcinoma)|Cholangiocellular carcinoma|cholangiocarcinoma, intrahepatic and extrahepatic bile ducts (adenocarcinoma)|bile duct cancer|adult primary cholangiocarcinoma|adult primary cholangiocellular carcinoma|cholangiocarcinoma|CC|CCA	http://purl.obolibrary.org/obo/MONDO_0019087	UMLS:C0206698|DOID:4947|http://identifiers.org/mesh/D018281|Orphanet:70567|NCIT:C4436|http://identifiers.org/snomedct/312104005	ordo_disease
MONDO:0020071	biolink:Disease	infantile epilepsy syndrome	A epilepsy syndrome that occurs between 28 days to one year of life..	UMLS:CN206975|Orphanet:98258	mondo.json	infantile onset epilepsy syndrome|epilepsy syndrome of infancy|infantile epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0020071	UMLS:CN206975|Orphanet:98258	ordo_group_of_disorders|disease_grouping
MONDO:0019086	biolink:Disease	carcinoma of esophagus	Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC).	NCIT:C3513|MedDRA:10030155|SCTID:372138000|Orphanet:70482|UMLS:C0152018|DOID:1107|EFO:0002916	mondo.json	cancer of esophagus|cancer of the esophagus|carcinoma of oesophagus|carcinoma of the esophagus|esophageal cancer, NOS|esophageal cancer|esophagus carcinoma|esophageal carcinoma|cancer of oesophagus|carcinoma of esophagus	http://purl.obolibrary.org/obo/MONDO_0019086	DOID:1107|Orphanet:70482|UMLS:C0152018|NCIT:C3513|http://identifiers.org/snomedct/372138000	disease_grouping|ordo_group_of_disorders
MONDO:0020070	biolink:Disease	neonatal epilepsy syndrome		UMLS:CN206974|Orphanet:98257	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020070	UMLS:CN206974|Orphanet:98257	ordo_group_of_disorders|disease_grouping
MONDO:0019081	biolink:Disease	obsolete alopecia universalis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019081		
MONDO:0019080	biolink:Disease	alopecia totalis	Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous.	Orphanet:700|ICD9:704.09|UMLS:C0263504|SCTID:19754005|OMIM:104000|MedDRA:10001766|GARD:0000613	mondo.json	alopecia totalis|total alopecia areata	http://purl.obolibrary.org/obo/MONDO_0019080	Orphanet:700|UMLS:C0263504|http://identifiers.org/snomedct/19754005	ordo_disease
CHR:9606-chr10q2	biolink:NamedThing	10q2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr10q2		
MONDO:0019083	biolink:Disease	Leigh syndrome with cardiomyopathy		Orphanet:70474|UMLS:CN205578|OMIM:256000	mondo.json	cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency|Leigh disease with myopathy|cardiomyopathy with myopathy due to COX deficiency	http://purl.obolibrary.org/obo/MONDO_0019083	Orphanet:70474|UMLS:CN205578	ordo_disease
MONDO:0019082	biolink:Disease	bullous pemphigoid	Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis.	Orphanet:703|NCIT:C84389|UMLS:C0030805|DOID:8506|GARD:0005972|ICD9:694.5|SCTID:77090002|EFO:0007187|ICD10CM:L12.0|MESH:D010391	mondo.json	Old Age pemphigus|benign pemphigus|pemphigoid|Parapemphigus|bullous pemphigoid|Senile dermatitis herpetiformis	http://purl.obolibrary.org/obo/MONDO_0019082	UMLS:C0030805|Orphanet:703|http://identifiers.org/snomedct/77090002|http://identifiers.org/mesh/D010391|NCIT:C84389|DOID:8506|http://purl.bioontology.org/ontology/ICD10CM/L12.0	ordo_disease
MONDO:0020079	biolink:Disease	obsolete plasma cell tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0020079		
MONDO:0020078	biolink:Disease	obsolete acute myeloid leukemia with recurrent genetic anomaly	OBSOLETE. A group of acute myeloid leukemias characterized by recurrent genetic abnormalities, mainly balanced translocations. (WHO, 2001)	NCIT:C7175|Orphanet:98277|ONCOTREE:AMLRGA|GARD:0012758	mondo.json	AML with recurrent Genetic abnormalities|AML with recurrent genetic anomaly|acute myeloid Leukemia with recurrent Genetic abnormalities|acute myeloid Leukemia with balanced Translocations/Inversions	http://purl.obolibrary.org/obo/MONDO_0020078	NCIT:C7175|Orphanet:98277	gard_rare|ordo_group_of_disorders
MONDO:0020077	biolink:Disease	myelodysplastic/myeloproliferative disease	Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS.	MESH:D054437|Orphanet:98275|GARD:0009351	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020077	Orphanet:98275|http://identifiers.org/mesh/D054437	ordo_group_of_disorders|disease_grouping
MONDO:0020076	biolink:Disease	myeloproliferative neoplasm	A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)	ICDO:9960/3|MedDRA:10028576|EFO:0004251|ICD9:238.79|SCTID:425333006|GARD:0009319|Orphanet:98274|EFO:0002428|ONCOTREE:MPN|DOID:2226|UMLS:C1292778|NCIT:C4345|ICDO:9975/1	mondo.json	MPD|chronic myeloproliferative disorder|myeloproliferative tumor|myeloproliferative disorder|chronic myeloproliferative neoplasm|CMPD|chronic myeloproliferative disorders|MPN|CMPD, U|chronic myeloproliferative disease|myeloproliferative neoplasm|myeloproliferative neoplasm, chronic|myeloproliferative neoplasms	http://purl.obolibrary.org/obo/MONDO_0020076	DOID:2226|UMLS:C1292778|NCIT:C4345|http://identifiers.org/snomedct/425333006|Orphanet:98274	ordo_group_of_disorders|disease_grouping
MONDO:0020075	biolink:Disease	genetic non-syndromic obesity		Orphanet:98267	mondo.json	genetic isolated obesity|genetic non-syndromic obesity|monogenic obesity due to a leptin-melanocortin pathway anomaly|monogenic isolated obesity	http://purl.obolibrary.org/obo/MONDO_0020075	Orphanet:98267	ordo_group_of_disorders|disease_grouping
HGNC:30391	biolink:NamedThing	IFT172			mondo.json		http://identifiers.org/hgnc/30391		
RO:0002598	biolink:NamedThing	capable of positively regulating	Holds between c and p if and only if c is capable of some activity a, and a positively regulates p.		mondo.json		http://purl.obolibrary.org/obo/RO_0002598		
HP:0004921	biolink:PhenotypicFeature	Abnormal magnesium concentration	An abnormality of magnesium ion homeostasis.	UMLS:C4020826|UMLS:C4025274	mondo.json	Abnormal Mg concentration|Abnormality of magnesium homeostasis|Abnormal magnesium metabolism	http://purl.obolibrary.org/obo/HP_0004921		
MONDO:0034668	biolink:Disease	obsolete terminal transverse limb defect		Orphanet:498461	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034668	Orphanet:498461	
MONDO:0034667	biolink:Disease	obsolete longitudinal limb defect		Orphanet:498457	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034667	Orphanet:498457	
MONDO:0019089	biolink:Disease	obsolete adult acute respiratory distress syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019089		
MONDO:0019088	biolink:Disease	post-transplant lymphoproliferative disease	Post-transplant lymphoproliferative disorder (PTLD) is a polyclonal (benign) or clonal (malignant) proliferation of lymphoid cells that develops as a consequence of immunosuppression in a recipient of a solid organ or bone marrow allograft. PTLDs comprise a spectrum ranging from early, Epstein-Barr virus (EBV)-driven polyclonal lymphoid proliferations to EBV-positive or EBV- negative lymphomas of predominantly B-cell or less often T-cell type. (WHO, 2001)	ICDO:9971/1|UMLS:C0432487|SCTID:254290004|NCIT:C4727|MedDRA:10051358|GARD:0009553|Orphanet:70568	mondo.json	PTLD|post-transplant lymphoproliferative disorder	http://purl.obolibrary.org/obo/MONDO_0019088	http://identifiers.org/snomedct/254290004|UMLS:C0432487|Orphanet:70568|NCIT:C4727	ordo_disease|gard_rare
MONDO:0034663	biolink:Disease	obsolete genetic inflammatory or rheumatoid-like osteoarthropathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0034663		
MONDO:0034661	biolink:Disease	syndromic biliary atresia		Orphanet:498350	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034661	Orphanet:498350	ordo_group_of_disorders
MONDO:0019074	biolink:Disease	bilateral acute depigmentation of the iris	Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure.	Orphanet:69736|SCTID:720460007	mondo.json	BADI	http://purl.obolibrary.org/obo/MONDO_0019074	Orphanet:69736|http://identifiers.org/snomedct/720460007	ordo_disease
MONDO:0020063	biolink:Disease	obsolete malformation syndrome with hamartosis		Orphanet:98196|UMLS:CN206967	mondo.json	Dysmorphologic diseases with phakomatosis	http://purl.obolibrary.org/obo/MONDO_0020063	UMLS:CN206967|Orphanet:98196	ordo_group_of_disorders
MONDO:0019073	biolink:Disease	hypotrichosis-lymphedema-telangiectasia-renal defect syndrome		MESH:C536825|DOID:0111360|OMIM:137940|UMLS:CN205563|GARD:0002492	mondo.json	glomerulonephritis with sparse hair and telangiectases|hypotrichosis-lymphedema-telangiectasia-renal defect syndrome|telangiectatic membranoproliferative glomerulonephritis|HLTRS|hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome	http://purl.obolibrary.org/obo/MONDO_0019073	DOID:0111360|http://identifiers.org/mesh/C536825|UMLS:CN205563|https://omim.org/entry/137940	
MONDO:0020062	biolink:Disease	obsolete chromosome X structural anomaly		Orphanet:98159	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020062	Orphanet:98159	ordo_group_of_disorders|disease_grouping
MONDO:0019076	biolink:Disease	circumscribed palmoplantar hypokeratosis	Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterised by circular, well-circumscribed patches of erythematous depressed skin.	Orphanet:69744	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019076	Orphanet:69744	ordo_disease
MONDO:0020061	biolink:Disease	obsolete chromosome Y structural anomaly		Orphanet:98158	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020061	Orphanet:98158	ordo_group_of_disorders|disease_grouping
MONDO:0020060	biolink:Disease	obsolete gonosome structural anomaly		Orphanet:98157	mondo.json	Sex-chromosome structural anomaly	http://purl.obolibrary.org/obo/MONDO_0020060	Orphanet:98157	ordo_group_of_disorders|disease_grouping
MONDO:0019075	biolink:Disease	Bosley-Salih-Alorainy syndrome	Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.	Orphanet:69737	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019075	Orphanet:69737	ordo_malformation_syndrome
MONDO:0019070	biolink:Disease	obsolete liposarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019070		
MONDO:0019072	biolink:Disease	intrahepatic cholestasis	A cholestasis characterized by impairment of the bile flow caused by obstruction located in the liver.	DOID:1852|SCTID:235888006|UMLS:C0008372|MESH:D002780	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019072	http://identifiers.org/mesh/D002780|UMLS:C0008372|http://identifiers.org/snomedct/235888006|DOID:1852	ordo_disease
MONDO:0034669	biolink:Disease	non-syndromic preaxial polydactyly		Orphanet:498464	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034669	Orphanet:498464	ordo_group_of_disorders
MONDO:0019071	biolink:Disease	pure hair and nail ectodermal dysplasia	Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.	Orphanet:69084|DOID:0111655	mondo.json	hair-nail ectodermal dysplasia|HNED|PHNED	http://purl.obolibrary.org/obo/MONDO_0019071	DOID:0111655|Orphanet:69084	ordo_malformation_syndrome
NCBITaxon:693660	biolink:OrganismalEntity	unclassified Primate lentivirus group		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_693660		
RO:0002595	biolink:NamedThing	causal relation between material entity and a process	A relationship that holds between a material entity and a process in which causality is involved, with either the material entity or some part of the material entity exerting some influence over the process, or the process influencing some aspect of the material entity.		mondo.json		http://purl.obolibrary.org/obo/RO_0002595		
MONDO:0020069	biolink:Disease	chronic encephalitis	Chronic form of encephalitis.	Orphanet:98255|UMLS:C0006109	mondo.json	encephalitis, chronic	http://purl.obolibrary.org/obo/MONDO_0020069	UMLS:C0006109|Orphanet:98255	ordo_group_of_disorders|disease_grouping
GO:0005594	biolink:NamedThing	collagen type IX trimer	A collagen heterotrimer containing type IX alpha chains in alpha1(IX)alpha2(IX)alpha3(IX) trimers; type IX collagen triple helices associate to form a structure that links glycosaminoglycans to type II collagen fibrils.		mondo.json		http://purl.obolibrary.org/obo/GO_0005594		
RO:0002596	biolink:NamedThing	capable of regulating	Holds between c and p if and only if c is capable of some activity a, and a regulates p.		mondo.json		http://purl.obolibrary.org/obo/RO_0002596		
MONDO:0020068	biolink:Disease	postinfectious encephalitis		MedDRA:10057235|SCTID:192727001|UMLS:C0393459|Orphanet:98253|ICD9:323.6	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020068	http://identifiers.org/snomedct/192727001|UMLS:C0393459|Orphanet:98253	ordo_group_of_disorders|disease_grouping
RO:0002597	biolink:NamedThing	capable of negatively regulating	Holds between c and p if and only if c is capable of some activity a, and a negatively regulates p.		mondo.json		http://purl.obolibrary.org/obo/RO_0002597		
MONDO:0007089	biolink:Disease	Alzheimer disease 2	An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele.	UMLS:C1863051|GARD:0012799|OMIM:104310|GARD:0009467|MESH:C536595|DOID:0110035	mondo.json	late onset Alzheimer disease|Alzheimer's disease type 2|late onset familial Alzheimer disease|Alzheimer disease 2, late-onset|late-onset familial alzheimer disease|Alzheimer disease-2|AD2|Alzheimer disease 2, late onset|Alzheimer disease associated with APOE4|LOFAD|Alzheimer disease type 2|Alzheimer disease 2|Alzheimer's disease 2|Alzheimer disease associated with APOE E4	http://purl.obolibrary.org/obo/MONDO_0007089	http://identifiers.org/mesh/C536595|https://omim.org/entry/104310|DOID:0110035|UMLS:C1863051	
MONDO:0020067	biolink:Disease	infectious encephalitis	An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi.	NCIT:C79550|ICD9:049.8|MESH:D000069544|ICD9:323.4|SCTID:312215006	mondo.json	encephalitis infection	http://purl.obolibrary.org/obo/MONDO_0020067	http://identifiers.org/snomedct/312215006|NCIT:C79550|http://identifiers.org/mesh/D000069544	ordo_group_of_disorders|disease_grouping
GO:0005592	biolink:NamedThing	collagen type XI trimer	A collagen heterotrimer containing type XI alpha chains in alpha1(XI)alpha2(XI)alpha3(XI) trimers; type XI collagen triple helices associate to form fibrils.		mondo.json		http://purl.obolibrary.org/obo/GO_0005592		
MONDO:0020066	biolink:Disease	Ehlers-Danlos syndrome	The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.	ICD10CM:Q79.6|Orphanet:98249|SCTID:398114001|DOID:13359|UMLS:C0013720|GARD:0006322|NCIT:C34568|ICD9:756.83|MESH:D004535|MedDRA:10014316|OMIMPS:130000	mondo.json	Ehler Danlos Syndrome|Ehlers-Danlos syndromes|danlos ehlers syndrome|Disease, Ehlers Danlos|skin elastic|Disease, Ehlers-Danlos|elastic skin|Danlos disease|Meekeren-Ehlers-Danlos syndrome|Ehlers Danlos Disease|Dystrophia mesodermalis congenita|Ehlers Danlos syndrome|Fibrodysplasia elastica generalisata|ED syndrome|Ehlers-Danlos Disease|Syndrome, Ehlers-Danlos|Danlos Disease, Ehlers|Hereditary collagen dysplasia|EDS	http://purl.obolibrary.org/obo/MONDO_0020066	DOID:13359|https://omim.org/phenotypicSeries/PS130000|http://identifiers.org/mesh/D004535|http://identifiers.org/snomedct/398114001|http://purl.bioontology.org/ontology/ICD10CM/Q79.6|Orphanet:98249|NCIT:C34568|UMLS:C0013720	gard_rare|disease_grouping|ordo_group_of_disorders
GO:0005593	biolink:NamedThing	FACIT collagen trimer	A collagen trimer that associates with collagen fibrils and consists of collagen monomers that contain two or more relatively short triple-helical domains connected by non-triple-helical sequences.		mondo.json		http://purl.obolibrary.org/obo/GO_0005593		
MONDO:0007087	biolink:Disease	alternating hemiplegia of childhood 1	Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene.	UMLS:C3549447|OMIM:104290	mondo.json	AHC1|alternating hemiplegia of childhood type 1|alternating hemiplegia of childhood 1|ATP1A2 alternating hemiplegia of childhood|alternating hemiplegia of childhood caused by mutation in ATP1A2	http://purl.obolibrary.org/obo/MONDO_0007087	https://omim.org/entry/104290|UMLS:C3549447	
MONDO:0020065	biolink:Disease	combined dystonia	A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism).	Orphanet:98203|UMLS:CN206969	mondo.json	dystonia-plus syndrome	http://purl.obolibrary.org/obo/MONDO_0020065	UMLS:CN206969|Orphanet:98203	ordo_group_of_disorders|disease_grouping
MONDO:0007088	biolink:Disease	Alzheimer disease type 1		GARD:0009465|DOID:0080348|UMLS:C2931257|OMIM:104300|DECIPHER:48|MESH:C536594	mondo.json	Alzheimer disease, early-onset, with cerebral amyloid angiopathy|Alzheimer disease, susceptibility to|Alzheimer disease, late-onset, susceptibility to|Alzheimer disease|AD1|AD|Alzheimer disease, protection against|early-onset familial form of Alzheimer disease|Alzheimer disease 1|Alzheimer disease 1, familial|presenile and senile dementia|Alzheimer disease, familial, 1	http://purl.obolibrary.org/obo/MONDO_0007088	DOID:0080348|http://identifiers.org/mesh/C536594|UMLS:C2931257	gard_rare
MONDO:0020064	biolink:Disease	pulmonary valve agenesis	Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424	GARD:0004597|Orphanet:982|SCTID:6996004	mondo.json	congenital absence of the pulmonary valve|absent pulmonary valve syndrome|PVA|pulmonary valves agenesis	http://purl.obolibrary.org/obo/MONDO_0020064	Orphanet:982|http://identifiers.org/snomedct/6996004	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0007085	biolink:Disease	alopecia-epilepsy-pyorrhea-intellectual disability syndrome	Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.	Orphanet:1008|UMLS:C1863090|OMIM:104130|GARD:0000607|MESH:C537057|SCTID:720980004	mondo.json	alopecia, epilepsy, pyorrhea, mental subnormality|congenital universal alopecia, epilepsy, mental subnormality and pyorrhea|alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality|Shokeir syndrome	http://purl.obolibrary.org/obo/MONDO_0007085	http://identifiers.org/mesh/C537057|Orphanet:1008|https://omim.org/entry/104130|http://identifiers.org/snomedct/720980004|UMLS:C1863090	ordo_disease
MONDO:0034671	biolink:Disease	non-syndromic complex polydactyly		Orphanet:498470	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034671	Orphanet:498470	ordo_group_of_disorders
MONDO:0007086	biolink:Disease	autosomal dominant Alport syndrome	Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell.	SCTID:717766000|DOID:0110032|GARD:0000624|Orphanet:88918|OMIM:104200	mondo.json	Alport syndrome dominant type|Alport syndrome, autosomal dominant|renal failure and sensorineural hearing loss|Alport syndrome 3, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007086	Orphanet:88918|https://omim.org/entry/104200|DOID:0110032|http://identifiers.org/snomedct/717766000	ordo_etiological_subtype|gard_rare
MONDO:0034670	biolink:Disease	non-syndromic postaxial polydactyly		Orphanet:498467	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034670	Orphanet:498467	ordo_group_of_disorders
MONDO:0007083	biolink:Disease	autosomal dominant palmoplantar keratoderma and congenital alopecia	Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.	OMIM:104100|GARD:0000604|SCTID:719518004|Orphanet:1010	mondo.json	palmoplantar keratoderma and congenital alopecia, Stevanovic type|palmoplantar keratoderma with congenital alopecia|keratoderma-hypotrichosis-leukonychia totalis syndrome|alopecia congenita with hyperkeratosis of the palms and soles|PPKCA1|palmoplantar keratoderma and congenital alopecia 1|palmoplantar keratoderma and congenital alopecia type 1|PPK-CA, Stevanovic type|autosomal dominant palmoplantar hyperkeratosis and congenital alopecia|Ppkca, Stevanovic type	http://purl.obolibrary.org/obo/MONDO_0007083	Orphanet:1010|http://identifiers.org/snomedct/719518004|https://omim.org/entry/104100	gard_rare|ordo_disease
MONDO:0007084	biolink:Disease	familial focal alopecia		UMLS:C1863092|MESH:C566301|OMIM:104110	mondo.json	alopecia, familial focal|ALPF	http://purl.obolibrary.org/obo/MONDO_0007084	http://identifiers.org/mesh/C566301|https://omim.org/entry/104110|UMLS:C1863092	
MONDO:0007081	biolink:Disease	obsolete allergic bronchopulmonary aspergillosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007081		
MONDO:0007082	biolink:Disease	alopecia areata 1		UMLS:C1863094|Orphanet:701|MESH:C566303|UMLS:C0263505|OMIM:104000|Orphanet:700	mondo.json	alopecia areata 1|alopecia universalis|AA1	http://purl.obolibrary.org/obo/MONDO_0007082	https://omim.org/entry/104000|http://identifiers.org/mesh/C566303|UMLS:C1863094	
MONDO:0007080	biolink:Disease	glucocorticoid-remediable aldosteronism	Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.	Orphanet:403|UMLS:C1260386|MESH:C563177|UMLS:C3838731|DOID:14080|ICD10CM:E26.02|GARD:0002790|ICD9:255.11|OMIM:103900	mondo.json	aldosteronism, glucocorticoid-remediable|HALD1|glucocorticoid-remediable aldosteronism|dexamethasone sensitive hypertension|hyperaldosteronism, familial, type I|FH1|dexamethasone-sensitive hypertension|FH-I|GRA|glucocorticoid sensitive hypertension|aldosteronism, sensitive to dexamethasone|familial hyperaldosteronism type I|hyperaldosteronism, familial, type 1|glucocorticoid-suppressible hyperaldosteronism|glucocorticoid-sensitive hypertension|ACTH-dependent hyperaldosteronism syndrome|familial hyperaldosteronism type 1|FH 1|hyperaldosteronism, familial type 1	http://purl.obolibrary.org/obo/MONDO_0007080	DOID:14080|http://purl.bioontology.org/ontology/ICD10CM/E26.02|Orphanet:403|http://identifiers.org/mesh/C563177|https://omim.org/entry/103900|UMLS:C3838731|UMLS:C1260386	gard_rare|ordo_disease
MONDO:0034678	biolink:Disease	obsolete mirror-image polydactyly	OBSOLETE. A rare non-syndromic limb malformation characterized by a hand or foot with more than five digits that has a recognizable anterior/posterior axis of symmetry, either with a hallux- or thumb-like structure or an interdigital space in the middle. The most lateral digits on each side typically resemble fifth fingers or toes. The malformation may be unilateral or bilateral and may occur in isolation or in association with other congenital anomalies. [Orphanet:498494]	Orphanet:498494	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034678	Orphanet:498494	
MONDO:0032014	biolink:Disease	obsolete particular clinical situation in a disease or syndrome	OBSOLETE. A set of phenotypic abnormalities presenting in a subset of patients under particular circumstances.	Orphanet:377793	mondo.json		http://purl.obolibrary.org/obo/MONDO_0032014	Orphanet:377793	
MONDO:0034676	biolink:Disease	overgrowth syndrome with 2q37 translocation	A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported.	Orphanet:498488	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034676	Orphanet:498488	ordo_disorder
MONDO:0019078	biolink:Disease	Ritscher-Schinzel syndrome	Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.	OMIMPS:220210|UMLS:C0796137|MESH:C535313|Orphanet:7|DOID:0060565|SCTID:718556007|GARD:0005666	mondo.json	CCC dysplasia|Ritscher-Schinzel syndrome|Dandy-Walker-like malformation with ASD|3C syndrome|Dandy-Walker-like malformation with atrioventricular septal defect|Dandy-Walker like malformation with atrioventricular septal defect|Ritscher Schinzel syndrome|Ritscher-Schinzel cranio-cerebello-cardiac syndrome|Craniocerebellocardiac dysplasia|cranio-cerebello-cardiac dysplasia|craniocerebellocardiac dysplasia	http://purl.obolibrary.org/obo/MONDO_0019078	Orphanet:7|http://identifiers.org/mesh/C535313|http://identifiers.org/snomedct/718556007|DOID:0060565|https://omim.org/phenotypicSeries/PS220210|UMLS:C0796137	gard_rare|ordo_malformation_syndrome
MONDO:0019077	biolink:Disease	warty dyskeratoma	A rare, usually solitary, benign epithelial tumor of the skin that appears to arise from a hair follicle. It usually develops in the head and neck region as a nodular lesion with a central keratotic plug.	MedDRA:10068856|UMLS:C0334063|SCTID:254676008|NCIT:C4087|Orphanet:69745	mondo.json	follicular dyskeratoma|isolated follicular keratosis	http://purl.obolibrary.org/obo/MONDO_0019077	Orphanet:69745|http://identifiers.org/snomedct/254676008|NCIT:C4087|UMLS:C0334063	ordo_disease
MONDO:0032013	biolink:Disease	obsolete clinical syndrome	OBSOLETE. A disorder with homogeneous therapeutic possibilities, regardless of the pathophysiological mechanism involved.	Orphanet:377792	mondo.json		http://purl.obolibrary.org/obo/MONDO_0032013	Orphanet:377792	
MONDO:0034673	biolink:Disease	obsolete ectrodactyly with and without other manifestations			mondo.json		http://purl.obolibrary.org/obo/MONDO_0034673		
MONDO:0019079	biolink:Disease	proximal spinal muscular atrophy	Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.	EFO:0008929|Orphanet:70|UMLS:C4024957|GARD:0004531|UMLS:CN205570	mondo.json	SMA	http://purl.obolibrary.org/obo/MONDO_0019079	UMLS:CN205570|Orphanet:70|UMLS:C4024957	gard_rare|ordo_disease
MONDO:0032011	biolink:Disease	obsolete biological anomaly	OBSOLETE. A disorder defined by a set of physiological abnormalities without clearly associated clinical manifestations. [Orphanet:377790]	Orphanet:377790	mondo.json		http://purl.obolibrary.org/obo/MONDO_0032011	Orphanet:377790	
MONDO:0019063	biolink:Disease	vascular anomaly		Orphanet:68419	mondo.json	vascular anomaly or angioma	http://purl.obolibrary.org/obo/MONDO_0019063	Orphanet:68419	disease_grouping|ordo_group_of_disorders
MONDO:0020052	biolink:Disease	obsolete partial autosomal trisomy/tetrasomy		Orphanet:98132	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020052	Orphanet:98132	ordo_group_of_disorders|disease_grouping
MONDO:0019062	biolink:Disease	obsolete rare infectious disease	OBSOLETE. Rare infectious disease.	Orphanet:68416|UMLS:CN205543	mondo.json	rare infectious disease	http://purl.obolibrary.org/obo/MONDO_0019062	Orphanet:68416|UMLS:CN205543	ordo_group_of_disorders|disease_grouping|obsoletion_candidate
MONDO:0020051	biolink:Disease	obsolete total autosomal trisomy		Orphanet:98131	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020051	Orphanet:98131	ordo_group_of_disorders|disease_grouping
MONDO:0020050	biolink:Disease	obsolete autosomal trisomy		ICD9:758.5|UMLS:C1996945|GARD:0006065|Orphanet:98130|SCTID:429442006	mondo.json	chromosomal triplication|autosomal duplication|trisomy	http://purl.obolibrary.org/obo/MONDO_0020050	http://identifiers.org/snomedct/429442006|UMLS:C1996945|Orphanet:98130	ordo_group_of_disorders|disease_grouping
MONDO:0019065	biolink:Disease	amyloidosis	A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands.	NCIT:C2868|EFO:1001875|DOID:9120|ICD9:277.30|UMLS:C0002726|Orphanet:69|SCTID:17602002|ONCOTREE:MIDDA|MESH:D000686|MedDRA:10002022|ICD9:277.3|HP:0011034	mondo.json	amyloidoses|amyloidosis|amyloid disease|amyloid|amyloidosis (disease)	http://purl.obolibrary.org/obo/MONDO_0019065	UMLS:C0002726|http://identifiers.org/snomedct/17602002|NCIT:C2868|http://identifiers.org/mesh/D000686|DOID:9120|Orphanet:69	disease_grouping|ordo_group_of_disorders
GO:0030547	biolink:NamedThing	signaling receptor inhibitor activity	Binds to and modulates the activity of a signaling receptor.		mondo.json	receptor inhibitor activity	http://purl.obolibrary.org/obo/GO_0030547		
MONDO:0019064	biolink:Disease	hereditary spastic paraplegia	Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs.	MedDRA:10019903|GARD:0006637|ICD9:334.1|DOID:2476|SCTID:39912006|OMIMPS:303350|Orphanet:685|MESH:D015419|NCIT:C140267|ICD10CM:G11.4	mondo.json	SPG|spastic paraplegia|hereditary spastic paraparesis|familial spastic paraparesis|FSP|HSP|Strumpell-Lorrain disease|Strümpell-Lorrain disease|familial spastic paraplegia|French settlement disease	http://purl.obolibrary.org/obo/MONDO_0019064	http://identifiers.org/mesh/D015419|https://omim.org/phenotypicSeries/PS303350|http://identifiers.org/snomedct/39912006|Orphanet:685|http://purl.bioontology.org/ontology/ICD10CM/G11.4|DOID:2476|NCIT:C140267	disease_grouping|gard_rare|ordo_group_of_disorders
GO:0030545	biolink:NamedThing	signaling receptor regulator activity	Binds to and modulates the activity of a receptor.		mondo.json	receptor regulator activity	http://purl.obolibrary.org/obo/GO_0030545		
GO:0030546	biolink:NamedThing	signaling receptor activator activity	The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is increased.		mondo.json	signalling receptor activator activity|receptor activator activity	http://purl.obolibrary.org/obo/GO_0030546		
MONDO:0019061	biolink:Disease	obsolete rare parathyroid disease and phosphocalcic metabolism anomaly		Orphanet:68415|UMLS:CN205542	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019061	Orphanet:68415|UMLS:CN205542	ordo_group_of_disorders|disease_grouping|obsoletion_candidate
MONDO:0019060	biolink:Disease	bone neoplasm	A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage.	ONCOTREE:BONE|ICD10CM:C40-C41|GARD:0013223|NCIT:C9343|Orphanet:68411	mondo.json	neoplasm of bone|bone tumor|neoplasm of the bone|bone neoplasm|neoplasm of bone tissue|bone tissue tumor|rare bone tumor|bone neoplasms|osseous neoplasm|bone tumors|primary malignant neoplasm of bone|tumor of bone|tumor of bone tissue|tumor of the bone|primary bone cancer|bone tissue neoplasm|osseous tumor	http://purl.obolibrary.org/obo/MONDO_0019060	NCIT:C9343|Orphanet:68411	disease_grouping|ordo_group_of_disorders
HP:0004905	biolink:PhenotypicFeature	Low levels of vitamin A	A reduced concentration of vitamin A.	UMLS:C0042842|SNOMEDCT_US:72000004|MSH:D014802	mondo.json	Vitamin A deficiency	http://purl.obolibrary.org/obo/HP_0004905		
MONDO:0020059	biolink:Disease	obsolete gonosome number anomaly		Orphanet:98156	mondo.json	Sex-chromosome number anomaly	http://purl.obolibrary.org/obo/MONDO_0020059	Orphanet:98156	disease_grouping|ordo_group_of_disorders
RO:0002584	biolink:NamedThing	has part structure that is capable of	s 'has part structure that is capable of' p if and only if there exists some part x such that s 'has part' x and x 'capable of' p		mondo.json		http://purl.obolibrary.org/obo/RO_0002584		
MONDO:0020058	biolink:Disease	gonosome anomaly	Chromosomal disorder in which the chromosomal anomaly involves an gonosome. A gonosome is a chromosome responsible for sex determination. In humans and most animals, the sex chromosomes are designated X and Y.	ICD9:758.8|ICD9:758.81|Orphanet:98155|SCTID:95462004	mondo.json	Sex-chromosome anomaly	http://purl.obolibrary.org/obo/MONDO_0020058	Orphanet:98155|http://identifiers.org/snomedct/95462004	disease_grouping|ordo_group_of_disorders
MONDO:0020057	biolink:Disease	obsolete uniparental disomy of paternal origin		SCTID:726402006|Orphanet:98154	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020057	http://identifiers.org/snomedct/726402006|Orphanet:98154	disease_grouping|ordo_group_of_disorders
MONDO:0044001	biolink:Disease	hearing loss, mixed conductive-sensorineural	Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear.	NCIT:C26974|MESH:D046089|SCTID:77507001|UMLS:C0155552|EFO:1001803	mondo.json	hearing loss, mixed conductive sensorineural|Losses, mixed hearing|hearing loss, mixed|loss, mixed hearing|mixed deafness|mixed hearing loss|mixed conductive and sensorineural hearing loss|mixed type deafness|mixed conductive and sensorineural deafness	http://purl.obolibrary.org/obo/MONDO_0044001	UMLS:C0155552|http://identifiers.org/mesh/D046089|http://identifiers.org/snomedct/77507001|NCIT:C26974	
MONDO:0020056	biolink:Disease	obsolete uniparental disomy of maternal origin		SCTID:726401004|Orphanet:98153	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020056	http://identifiers.org/snomedct/726401004|Orphanet:98153	ordo_group_of_disorders|disease_grouping
PATO:0000117	biolink:NamedThing	size	A morphology quality inhering in a bearer by virtue of the bearer's physical magnitude.		mondo.json		http://purl.obolibrary.org/obo/PATO_0000117		
MONDO:0020055	biolink:Disease	obsolete autosomal uniparental disomy		Orphanet:98152|UMLS:CN229262	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020055	UMLS:CN229262|Orphanet:98152	ordo_group_of_disorders|disease_grouping
MONDO:0007098	biolink:Disease	ACys amyloidosis	Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages.	ICD9:277.39|ICD10EXP:I68.0*|DOID:0070027|OMIM:105150|ICD9:437.8|SCTID:703220002|ICD10EXP:E85.4+|Orphanet:100008	mondo.json	amyloidosis VI|cerebral amyloid angiopathy|cystatin amyloidosis|CST3-related amyloidosis|amyloidosis 6|HCHWA, Icelandic type|CST3-related cerebral amyloid angiopathy|cerebral hemorrhage, hereditary, with amyloidosis|amyloidosis, Cerebroarterial, Icelandic type|cerebral amyloid angiopathy, CST3-related|hereditary cystatin C amyloid angiopathy|hereditary cerebral hemorrhage with amyloidosis, Icelandic type|hereditary cerebral hemorrhage with amyloidosis	http://purl.obolibrary.org/obo/MONDO_0007098	https://omim.org/entry/105150|http://identifiers.org/snomedct/703220002|DOID:0070027|Orphanet:100008	ordo_clinical_subtype
MONDO:0020054	biolink:Disease	obsolete partial autosomal monosomy		ICD10CM:Q93.3|Orphanet:98142	mondo.json	partial autosomal deletion	http://purl.obolibrary.org/obo/MONDO_0020054	Orphanet:98142	ordo_group_of_disorders|disease_grouping
MONDO:0007099	biolink:Disease	familial visceral amyloidosis		Orphanet:85450|DOID:0050636|ICD9:277.39|GARD:0008282|MESH:C538249|UMLS:C0268389|SCTID:66451004|OMIM:105200	mondo.json	amyloidosis systemic nonneuropathic|amyloidosis familial renal|amyloidosis, Ostertag type|amyloidosis VIII|familial renal amyloidosis|hereditary amyloidosis with primary renal involement|amyloidosis, systemic Nonneuropathic|hereditary amyloid nephropathy|German type amyloidosis|amyloidosis, 3 or more types|amyloidosis familial visceral|hereditary renal amyloidosis|amyloidosis, familial renal|amyloidosis 8|amyloidosis, familial visceral|Ostertag type amyloidosis|systemic nonneuropathic amyloidosis|familial amyloid nephropathy|amyloidosis, renal	http://purl.obolibrary.org/obo/MONDO_0007099	http://identifiers.org/mesh/C538249|https://omim.org/entry/105200|Orphanet:85450|DOID:0050636|http://identifiers.org/snomedct/66451004|UMLS:C0268389	gard_rare|ordo_disease
MONDO:0020053	biolink:Disease	obsolete total autosomal monosomy		Orphanet:98141	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020053	Orphanet:98141	ordo_group_of_disorders|disease_grouping
CHEBI:43176	biolink:ChemicalSubstance	hydroxy group			mondo.json	hydroxyl|hydroxyl group|-OH|hydroxy|HYDROXY GROUP|hydroxy group	http://purl.obolibrary.org/obo/CHEBI_43176		
MONDO:0007096	biolink:Disease	amenorrhea-galactorrhea syndrome		OMIM:104600|MESH:C537072|UMLS:C0271556|ICD9:253.1|SCTID:64678009	mondo.json	amenorrhea-galactorrhea syndrome	http://purl.obolibrary.org/obo/MONDO_0007096	UMLS:C0271556|http://identifiers.org/mesh/C537072|https://omim.org/entry/104600|http://identifiers.org/snomedct/64678009	
MONDO:0007097	biolink:Disease	Finnish type amyloidosis		OMIM:105120|GARD:0002339|SCTID:419398009|ICD9:277.39|Orphanet:85448|MESH:C537459|DOID:0050637	mondo.json	amyloidosis V|meretoja type amyloidosis|lattice corneal dystrophy type II Finnish|cerebral amyloid angiopathy, Gsn-related|hereditary amyloidosis, Finnish type|amyloidosis, Meretoja type|corneal dystrophy, lattice type 2|hereditary gelsolin amyloidosis|AGel amyloidosis|amyloidosis 5|gelsolin amyloidosis|amyloid cranial neuropathy with lattice corneal dystrophy|familial amyloid polyneuropathy type IV|amyloidosis, Finnish type|lattice corneal dystrophy, type 2|amyloidosis, MERETOJA type|amyloidosis due to mutant gelsolin|familial amyloidosis, Finnish type|meretoja syndrome	http://purl.obolibrary.org/obo/MONDO_0007097	http://identifiers.org/snomedct/419398009|https://omim.org/entry/105120|http://identifiers.org/mesh/C537459|Orphanet:85448|DOID:0050637	ordo_disease
HGNC:30372	biolink:NamedThing	KLHL40			mondo.json		http://identifiers.org/hgnc/30372		
MONDO:0007094	biolink:Disease	amelogenesis imperfecta type 1A	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene.	DOID:0110054|MESH:C538240|OMIM:104530|GARD:0000645	mondo.json	amelogenesis imperfecta hypoplastic type IA|amelogenesis imperfecta type IA|LAMB3 amelogenesis imperfecta|amelogenesis imperfecta, type IA|amelogenesis imperfecta, type 1A|amelogenesis imperfecta, hypoplastic type 1A|amelogenesis imperfecta caused by mutation in LAMB3|amelogenesis imperfecta local hypoplastic|local hypoplastic amelogenesis imperfecta|AI1A	http://purl.obolibrary.org/obo/MONDO_0007094	DOID:0110054|https://omim.org/entry/104530|http://identifiers.org/mesh/C538240	gard_rare
MONDO:0007095	biolink:Disease	ameloonychohypohidrotic syndrome		SCTID:715404000|Orphanet:1028|UMLS:C1863006|OMIM:104570|MESH:C538245|GARD:0000647	mondo.json	amelo-onycho-hypohidrotic syndrome|hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis|ameloonychohypohidrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0007095	https://omim.org/entry/104570|http://identifiers.org/snomedct/715404000|UMLS:C1863006|http://identifiers.org/mesh/C538245|Orphanet:1028	gard_rare|ordo_malformation_syndrome
MONDO:0007092	biolink:Disease	amelogenesis imperfecta type 1B	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ENAM gene.	OMIM:104500|MESH:C562879|UMLS:C0399368|SCTID:234961008|ICD9:520.5|DOID:0110052	mondo.json	enam amelogenesis imperfecta|amelogenesis imperfecta caused by mutation in ENAM|amelogenesis imperfecta caused by mutation in enam|amelogenesis imperfecta, type IB|amelogenesis imperfecta, type 1B|amelogenesis imperfecta, hypoplastic local, autosomal dominant|hereditary localized enamel hypoplasia|enamel hypoplasia, hereditary localized|AI1B|amelogenesis imperfecta type IB|autosomal dominant hypoplastic local amelogenesis imperfecta|AIH2|ENAM amelogenesis imperfecta	http://purl.obolibrary.org/obo/MONDO_0007092	http://identifiers.org/snomedct/234961008|DOID:0110052|https://omim.org/entry/104500|http://identifiers.org/mesh/C562879|UMLS:C0399368	
RO:0002576	biolink:NamedThing	skeleton of	inverse of has skeleton		mondo.json		http://purl.obolibrary.org/obo/RO_0002576		
MONDO:0007093	biolink:Disease	hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene.	UMLS:C1863012|OMIM:104510|MESH:C566293|Orphanet:100034|DOID:0110053	mondo.json	amelogenesis imperfecta type 4|AIHHT|amelogenesis imperfecta caused by mutation in DLX3|DLX3 amelogenesis imperfecta|amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism|amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism|AI4|amelogenesis imperfecta, type 4|amelogenesis imperfecta, type IV	http://purl.obolibrary.org/obo/MONDO_0007093	http://identifiers.org/mesh/C566293|DOID:0110053|https://omim.org/entry/104510|Orphanet:100034|UMLS:C1863012	ordo_clinical_subtype
RO:0002577	biolink:NamedThing	system	A material entity consisting of multiple components that are causally integrated.		mondo.json		http://purl.obolibrary.org/obo/RO_0002577		
MONDO:0007090	biolink:Disease	amastia, bilateral, with ureteral triplication and dysmorphism		UMLS:C1863015|OMIM:104350|MESH:C566295	mondo.json	amastia, bilateral, with ureteral triplication and dysmorphism	http://purl.obolibrary.org/obo/MONDO_0007090	https://omim.org/entry/104350|UMLS:C1863015|http://identifiers.org/mesh/C566295	
RO:0002578	biolink:NamedThing	directly regulates	Process(P1) directly regulates process(P2) iff: P1 regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2).  For example, if protein A has protein binding activity(P1) that targets protein B and this binding  regulates the kinase activity (P2) of protein B then P1 directly regulates P2.		mondo.json		http://purl.obolibrary.org/obo/RO_0002578		
MONDO:0007091	biolink:Disease	amelia and terminal transverse hemimelia		OMIM:104400|MESH:C566294|UMLS:C1863014	mondo.json	amelia and terminal transverse hemimelia	http://purl.obolibrary.org/obo/MONDO_0007091	https://omim.org/entry/104400|UMLS:C1863014|http://identifiers.org/mesh/C566294	
MONDO:0019067	biolink:Disease	idiopathic steroid-sensitive nephrotic syndrome	Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits.	Orphanet:69061|OMIM:615861	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019067	Orphanet:69061	ordo_clinical_syndrome
MONDO:0019066	biolink:Disease	obsolete syndrome with brachydactyly	OBSOLETE. Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis.	UMLS:CN205546|Orphanet:69028	mondo.json	dysostosis with brachydactyly	http://purl.obolibrary.org/obo/MONDO_0019066	Orphanet:69028|UMLS:CN205546	ordo_group_of_disorders
MONDO:0019069	biolink:Disease	obsolete rhabdoid tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019069		
MONDO:0019068	biolink:Disease	congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization	A glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life.	SCTID:725592009|Orphanet:69063|UMLS:C4511239	mondo.json	neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency|alloimmune neonatal renal disease|neonatal membranous glomerulopathy with maternal NEP deficiency|neonatal glomerulopathy due to Neprilysin alloimmunization|neonatal glomerulopathy due to neprilysin alloimmunization|fetomaternal alloimmunization with antenatal glomerulopathies|FMAIG	http://purl.obolibrary.org/obo/MONDO_0019068	Orphanet:69063|http://identifiers.org/snomedct/725592009|UMLS:C4511239	ordo_disease
HGNC:17382	biolink:NamedThing	SRGAP1			mondo.json		http://identifiers.org/hgnc/17382		
NCIT:C12917	biolink:NamedThing	Malignant Cell			mondo.json		http://purl.obolibrary.org/obo/NCIT_C12917		http://purl.obolibrary.org/obo/NCIT_C157711|http://purl.obolibrary.org/obo/NCIT_C168655|http://purl.obolibrary.org/obo/NCIT_C168658|http://purl.obolibrary.org/obo/NCIT_C168656|http://purl.obolibrary.org/obo/NCIT_C168657|http://purl.obolibrary.org/obo/NCIT_C168662|http://purl.obolibrary.org/obo/NCIT_C168661
MONDO:0022620	biolink:Disease	obsolete CD4 deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022620		
MONDO:0009649	biolink:Disease	moyamoya disease 1		ICD9:437.5|SCTID:69116000|OMIM:252350|MESH:C536991	mondo.json	Moyamoya disease|MYMY1|Moyamoya disease 1|spontaneous occlusion of the circle of Willis	http://purl.obolibrary.org/obo/MONDO_0009649	http://identifiers.org/mesh/C536991|https://omim.org/entry/252350|http://identifiers.org/snomedct/69116000	
NCIT:C12919	biolink:NamedThing	Organ System			mondo.json		http://purl.obolibrary.org/obo/NCIT_C12919		http://purl.obolibrary.org/obo/NCIT_C166371|http://purl.obolibrary.org/obo/NCIT_C166373|http://purl.obolibrary.org/obo/NCIT_C165451
MONDO:0009648	biolink:Disease	peripheral motor neuropathy-dysautonomia syndrome	Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive.	Orphanet:2400|OMIM:252320|MESH:C536988|UMLS:C1854961	mondo.json	motor neuropathy, peripheral, with dysautonomia|Lisker-Garcia-Ramos syndrome	http://purl.obolibrary.org/obo/MONDO_0009648	Orphanet:2400|http://identifiers.org/mesh/C536988|https://omim.org/entry/252320|UMLS:C1854961	ordo_disease
MONDO:0022622	biolink:Disease	congenital disorder of glycosylation syndrome type 4		GARD:0001174	mondo.json	congenital disorder of glycosylation syndrome type 4|CDG syndrome type 4	http://purl.obolibrary.org/obo/MONDO_0022622		gard_rare
MONDO:0009647	biolink:Disease	Morquio syndrome C		OMIM:252300|MESH:C536247	mondo.json	Morquio syndrome C|Morquio syndrome type C|Morquio syndrome, Nonkeratosulfate-Excreting type	http://purl.obolibrary.org/obo/MONDO_0009647	http://identifiers.org/mesh/C536247|https://omim.org/entry/252300	
MONDO:0022623	biolink:Disease	CDK4 linked melanoma		GARD:0001175	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022623		gard_rare
MONDO:0010635	biolink:Disease	hypogonadotropic hypogonadism 1 with or without anosmia	The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3.	ICD10CM:E23.0|NCIT:C75480|UMLS:C1563719|OMIM:308700|DOID:0090094|GARD:0003071	mondo.json	hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), X-linked recessive|hypogonadotropic hypogonadism and anosmia|anosmic hypogonadism|Kallmann syndrome, X-linked|hypogonadotropic hypogonadism 1 with or without anosmia|dysplasia Olfactogenitalis of De Morsier|Kallmann syndrome, type 1, X-linked|KMS|KAL1|ANOS1 hypogonadotropic hypogonadism|HH1|dysplasia olfactogenitalis of de Morsier|hypogonadotropic hypogonadism caused by mutation in ANOS1|Kallmann syndrome 1	http://purl.obolibrary.org/obo/MONDO_0010635	NCIT:C75480|DOID:0090094|https://omim.org/entry/308700|UMLS:C1563719	gard_rare
MONDO:0009646	biolink:Disease	Monosomy 7 myelodysplasia and leukemia syndrome 1		UMLS:C1854978|OMIM:252270|MESH:C565370	mondo.json	M7MLS1|myelodysplasia and leukemia syndrome with monosomy 7|monosomy 7 of bone marrow|chromosome 7Q deletion	http://purl.obolibrary.org/obo/MONDO_0009646	http://identifiers.org/mesh/C565370|https://omim.org/entry/252270|UMLS:C1854978	
RO:0002572	biolink:NamedThing	luminal space of	s is luminal space of x iff s is lumen_of x and s is an immaterial entity		mondo.json		http://purl.obolibrary.org/obo/RO_0002572		
MONDO:0010634	biolink:Disease	jaundice, familial obstructive, of infancy		UMLS:C1839927|OMIM:308600|MESH:C564118	mondo.json	jaundice, familial obstructive, of infancy	http://purl.obolibrary.org/obo/MONDO_0010634	UMLS:C1839927|http://identifiers.org/mesh/C564118|https://omim.org/entry/308600	
MONDO:0009645	biolink:Disease	chronic mucocutaneous candidiasis due to monocyte chemotactic disorder		OMIM:252250|MESH:C565371|UMLS:C1854982	mondo.json	monocyte chemotactic disorder	http://purl.obolibrary.org/obo/MONDO_0009645	http://identifiers.org/mesh/C565371|https://omim.org/entry/252250|UMLS:C1854982	
RO:0002573	biolink:NamedThing	has modifier	A relation that holds between an attribute or a qualifier and another attribute.		mondo.json		http://purl.obolibrary.org/obo/RO_0002573		
MONDO:0010637	biolink:Disease	keratosis follicularis spinulosa decalvans, X-linked		OMIM:308800|MESH:C536159|UMLS:C3887525	mondo.json	keratosis follicularis spinulosa decalvans, X-linked, X-linked recessive|keratosis follicularis SPINULOSA decalvans, X-linked|keratosis follicularis spinulosa decalvans cum ophiasi|keratosis follicularis spinulosa decalvans|keratosis follicularis spinulosa decalvans, X-linked|Kfsdx|keratosis follicularis Spinulosa decalvans cum Ophiasi|KFSDX	http://purl.obolibrary.org/obo/MONDO_0010637	UMLS:C3887525|http://identifiers.org/mesh/C536159|https://omim.org/entry/308800	
MONDO:0009644	biolink:Disease	sulfite oxidase deficiency due to molybdenum cofactor deficiency type B		OMIM:252160|DOID:0111163|PMID:10053004|UMLS:C1854989|MESH:C565373|Orphanet:308393	mondo.json	MOCOD type B|MOCODB|molybdenum cofactor deficiency, complementation group type B|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B|molybdenum cofactor deficiency type B|molybdenum cofactor deficiency, complementation group B|molybdenum cofactor deficiency B|molybdenum cofactor deficiency complementation group B|sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	http://purl.obolibrary.org/obo/MONDO_0009644	DOID:0111163|http://identifiers.org/mesh/C565373|https://omim.org/entry/252160|UMLS:C1854989|Orphanet:308393	ordo_etiological_subtype
MONDO:0009643	biolink:Disease	sulfite oxidase deficiency due to molybdenum cofactor deficiency type A		DOID:0111164|PMID:9731530|Orphanet:308386|MESH:C565372|UMLS:C1854988|OMIM:252150	mondo.json	sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of|molybdenum cofactor deficiency, complementation group type a|MOCOD type A|molybdenum cofactor deficiency A|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A|molybdenum cofactor deficiency type A|molybdenum cofactor deficiency, complementation group A|molybdenum cofactor deficiency complementation group A|MOCODA	http://purl.obolibrary.org/obo/MONDO_0009643	DOID:0111164|http://identifiers.org/mesh/C565372|https://omim.org/entry/252150|UMLS:C1854988|Orphanet:308386	ordo_etiological_subtype
MONDO:0010636	biolink:Disease	Kallmann syndrome with spastic paraplegia		UMLS:C1839911|MESH:C536873|OMIM:308750	mondo.json	spastic paraplegia-Kallmann syndrome|Kallmann syndrome with spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0010636	UMLS:C1839911|http://identifiers.org/mesh/C536873|https://omim.org/entry/308750	
MONDO:0009642	biolink:Disease	orofaciodigital syndrome type II	Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.	OMIM:252100|Orphanet:2751|GARD:0003701|SCTID:1779005|ICD9:759.89	mondo.json	OFD2|oral facial digital syndrome 2|Mohr syndrome|orofaciodigital syndrome 2|oral-facial-digital syndrome type 2|oral-Facial-digital syndrome, type 2|MOHR syndrome|OFD syndrome 2|orofaciodigital syndrome II|Ofds 2|orofaciodigital syndrome type 2|oral facial digital syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0009642	http://identifiers.org/snomedct/1779005|Orphanet:2751|https://omim.org/entry/252100	ordo_malformation_syndrome
MONDO:0010639	biolink:Disease	laryngeal abductor paralysis-intellectual disability syndrome	Laryngeal abductor paralysis-intellectual disability syndrome is characterised by congenital and permanent laryngeal abductor paralysis, associated, in the majority of cases, with intellectual deficit. It has been described in several families. X-linked inheritance is likely.	Orphanet:2375|OMIM:308850|UMLS:CN201604|SCTID:724178000	mondo.json	vocal cord dysfunction, familial|laryngeal abductor paralysis|Plott syndrome	http://purl.obolibrary.org/obo/MONDO_0010639	UMLS:CN201604|http://identifiers.org/snomedct/724178000|https://omim.org/entry/308850|Orphanet:2375	ordo_malformation_syndrome
MONDO:0010638	biolink:Disease	keratosis follicularis-dwarfism-cerebral atrophy syndrome	A syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present.	MESH:C536158|OMIM:308830|GARD:0003099|Orphanet:2339|UMLS:C1839910	mondo.json	keratosis follicularis, dwarfism, and cerebral atrophy|dwarfism, cerebral atrophy and generalized keratosis follicularis|keratosis follicularis dwarfism and cerebral atrophy	http://purl.obolibrary.org/obo/MONDO_0010638	http://identifiers.org/mesh/C536158|UMLS:C1839910|https://omim.org/entry/308830|Orphanet:2339	ordo_malformation_syndrome|gard_rare
MONDO:0009641	biolink:Disease	obsolete mitochondrial complex II deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009641		
MONDO:0009640	biolink:Disease	obsolete mitochondrial complex I deficiency, nuclear type			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009640		
NCIT:C12913	biolink:NamedThing	Abnormal Cell			mondo.json		http://purl.obolibrary.org/obo/NCIT_C12913		
RO:0002571	biolink:NamedThing	lumen of	x lumen_of y iff x is the space or substance that is part of y and does not cross any of the inner membranes or boundaries of y that is maximal with respect to the volume of the convex hull.		mondo.json		http://purl.obolibrary.org/obo/RO_0002571		
RO:0002569	biolink:NamedThing	has branching part	inverse of branching part of		mondo.json		http://purl.obolibrary.org/obo/RO_0002569		
HGNC:2153	biolink:NamedThing	CNGB3			mondo.json		http://identifiers.org/hgnc/2153		
MONDO:0010640	biolink:Disease	Leber optic atrophy, susceptibility to		OMIM:308905	mondo.json	Loas|Leber hereditary optic neuropathy, modifier of|Lhon, modifier of|Leber optic atrophy, susceptibility to|Leber hereditary optic neuropathy, modifier of, X-linked dominant	http://purl.obolibrary.org/obo/MONDO_0010640	https://omim.org/entry/308905	predisposition
HGNC:2151	biolink:NamedThing	CNGB1			mondo.json		http://identifiers.org/hgnc/2151		
HGNC:2150	biolink:NamedThing	CNGA3			mondo.json		http://identifiers.org/hgnc/2150		
MONDO:0010642	biolink:Disease	Lesch-Nyhan phenotype with normal HGPRT		OMIM:308950	mondo.json	Lesch-Nyhan phenotype with normal HGPRT	http://purl.obolibrary.org/obo/MONDO_0010642	https://omim.org/entry/308950	
MONDO:0010641	biolink:Disease	X-linked diffuse leiomyomatosis-Alport syndrome	The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families.	GARD:0002432|OMIM:308940|MESH:C537113|Orphanet:1018	mondo.json	diffuse leiomyomatosis in Alport syndrome|leiomyomatosis, esophageal and vulval, with nephropathy|Xq22.3 microdeletion syndrome|leiomyomatosis, diffuse, with Alport syndrome|Alport syndrome and diffuse leiomyomatosis|chromosome Xq22.3 centromeric deletion syndrome|Alport syndrome with diffuse leiomyomatosis|DL-ATS|ATS-DL	http://purl.obolibrary.org/obo/MONDO_0010641	https://omim.org/entry/308940|Orphanet:1018|http://identifiers.org/mesh/C537113	ordo_disease
RO:0002566	biolink:NamedThing	causally influences	The entity or characteristic A is causally upstream of the entity or characteristic B, A having an effect on B. An entity corresponds to any biological type of entity as long as a mass is measurable. A characteristic corresponds to a particular specificity of an entity (e.g., phenotype, shape, size).		mondo.json		http://purl.obolibrary.org/obo/RO_0002566		
MONDO:0010644	biolink:Disease	proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis		MESH:C545036|Orphanet:1652|UMLS:C1839874|OMIM:308990|Orphanet:93622	mondo.json	proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, X-linked recessive|proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis	http://purl.obolibrary.org/obo/MONDO_0010644	UMLS:C1839874|http://identifiers.org/mesh/C545036|https://omim.org/entry/308990	
RO:0002567	biolink:NamedThing	biomechanically related to	A relation that holds between elements of a musculoskeletal system or its analogs.		mondo.json		http://purl.obolibrary.org/obo/RO_0002567		
MONDO:0010643	biolink:Disease	acute leukemia	A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).	DOID:12603|HP:0002488|ICDO:9801/3|NCIT:C9300|NCIT:C9298|ICD9:208.00|EFO:1000068|ICD9:208.0|SCTID:91855006|MESH:C564112	mondo.json	acute leukemia|stem cell leukemia (disease)|stem cell leukaemia|acute leukemia (disease)|stem cell leukemia|leukemia, acute, X-linked	http://purl.obolibrary.org/obo/MONDO_0010643	DOID:12603|http://identifiers.org/snomedct/91855006|NCIT:C9300|http://identifiers.org/mesh/C564112	
RO:0002568	biolink:NamedThing	has muscle antagonist	m1 has_muscle_antagonist m2 iff m1 has_muscle_insertion s, m2 has_muscle_insection s, m1 acts in opposition to m2, and m2 is responsible for returning the structure to its initial position.		mondo.json		http://purl.obolibrary.org/obo/RO_0002568		
MONDO:0022613	biolink:Disease	bruyn scheltens syndrome		GARD:0001034	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022613		gard_rare
HP:0100529	biolink:PhenotypicFeature	Abnormal blood phosphate concentration	An abnormality of phosphate homeostasis or concentration in the body.	UMLS:C4022032	mondo.json	Abnormality of phosphate homeostasis	http://purl.obolibrary.org/obo/HP_0100529		
MONDO:0022615	biolink:Disease	burn goodship syndrome		GARD:0001041	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022615		gard_rare
MONDO:0022618	biolink:Disease	burning mouth syndrome type 3		UMLS:C2931487|MESH:C537413|GARD:0008558	mondo.json	BMS-3|type 3 burning mouth syndrome|Psychiatric disorders coexisting with burning mouth syndrome	http://purl.obolibrary.org/obo/MONDO_0022618	http://identifiers.org/mesh/C537413|UMLS:C2931487	gard_rare
HP:0100526	biolink:PhenotypicFeature	Neoplasm of the lung	Tumor of the lung.	NCIT:C3262|MSH:D008175|SNOMEDCT_US:126713003|UMLS:C0024121	mondo.json	Lung tumour|Lung cancer|Lung tumor	http://purl.obolibrary.org/obo/HP_0100526		
HP:0100533	biolink:PhenotypicFeature	Inflammatory abnormality of the eye	Inflammation of the eye, parts of the eye or the periorbital region.	UMLS:C4020969	mondo.json	Ocular inflammation|Inflammatory abnormality of the eye	http://purl.obolibrary.org/obo/HP_0100533		
MONDO:0022610	biolink:Disease	bronchiectasis oligospermia		GARD:0001023	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022610		gard_rare
MONDO:0009659	biolink:Disease	mucopolysaccharidosis type 4A	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.	SCTID:7259005|OMIM:253000|DOID:0111391|NCIT:C84901|GARD:0003785|Orphanet:309297	mondo.json	mucopolysaccharidosis, type IVA|Morquio A disease|mucopolysaccharidosis type IVA|MPSIVA|galactosamine-6-sulfatase deficiency|MPS 4A|Morquio syndrome A|N-acetylgalactosamine-6-sulfate sulfatase deficiency|Morquio disease type A|mucopolysaccharidosis, type 4A|GALNS deficiency|MPS IVA|MPS IV A|MPS4A|mucopolysaccharidosis IVA|mucopolysaccharidosis type 4A	http://purl.obolibrary.org/obo/MONDO_0009659	http://identifiers.org/snomedct/7259005|https://omim.org/entry/253000|DOID:0111391|Orphanet:309297|NCIT:C84901	ordo_clinical_subtype
MONDO:0022611	biolink:Disease	Brunoni syndrome		UMLS:C2931486|MESH:C537408	mondo.json	mesomelia, radial hypoplasia bifid thumb unusual facies|mesomelic dwarfism, skeletal abnormalities, and ectodermal dysplasia	http://purl.obolibrary.org/obo/MONDO_0022611	UMLS:C2931486|http://identifiers.org/mesh/C537408	
HGNC:30348	biolink:NamedThing	POLR3B			mondo.json		http://identifiers.org/hgnc/30348		
MONDO:0022612	biolink:Disease	Brunsting-Perry syndrome		GARD:0010454|EFO:0008611|UMLS:C1304226	mondo.json	localized cicatricial pemphigoid|cicatricial pemphigoid of the Brunsting-Perry type|Brunsting Perry syndrome	http://purl.obolibrary.org/obo/MONDO_0022612	UMLS:C1304226	gard_rare
MONDO:0009658	biolink:Disease	mucopolysaccharidosis type 3D	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays.	Orphanet:79272|GARD:0007074|NCIT:C84900|SCTID:15892005|DOID:0111402|OMIM:252940|UMLS:C0086650	mondo.json	mucopolysaccharidosis type 3D|Mucopoly-saccharidosis type 3D|mucopolysaccharidosis, type IIID|Sanfilippo D|MPS 3D|MPS IIID|Sanfilippo syndrome type D|mucopolysaccharidosis type IIID|mucopolysaccharidosis, type 3D|N-acetylglucosamine-6-sulfate sulfatase deficiency|N-acetylglucosamine-6-sulfatase deficiency|MPSIIID|glucosamine N-acetyl-6-sulfatase deficiency|MPS III D|Sanfilippo syndrome D|MPS3D|GNS deficiency	http://purl.obolibrary.org/obo/MONDO_0009658	UMLS:C0086650|DOID:0111402|http://identifiers.org/snomedct/15892005|Orphanet:79272|https://omim.org/entry/252940|NCIT:C84900	ordo_etiological_subtype
MONDO:0009657	biolink:Disease	mucopolysaccharidosis type 3C	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.	UMLS:C0086649|DOID:0111393|GARD:0007073|Orphanet:79271|NCIT:C84899|SCTID:75238000|OMIM:252930	mondo.json	Sanfilippo syndrome C|Mucopoly-saccharidosis type 3C|mucopolysaccharidosis type IIIC (Sanfilippo C)|mucopolysaccharidosis, type IIIC|Sanfilippo C|MPS IIIC|mucopolysaccharidosis type IIIC|MPS 3C|Sanfilippo syndrome type C|acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency|mucopolysaccharidosis type 3C|mucopolysaccharidosis, type 3C|Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency|MPSIIIC|MPS III C|heparan-alpha-glucosaminide N-acetyltransferase deficiency|HGSNAT deficiency|MPS3C	http://purl.obolibrary.org/obo/MONDO_0009657	UMLS:C0086649|http://identifiers.org/snomedct/75238000|DOID:0111393|Orphanet:79271|https://omim.org/entry/252930|NCIT:C84899	ordo_etiological_subtype
MONDO:0010624	biolink:Disease	obsolete IFAP/BRESHECK syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010624		
MONDO:0009656	biolink:Disease	mucopolysaccharidosis type 3B	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.	DOID:0111394|SCTID:59990008|Orphanet:79270|GARD:0007072|NCIT:C84898|OMIM:252920|UMLS:C0086648	mondo.json	Mucopoly-saccharidosis type 3B|MPS3B|Sanfilippo B|MPS IIIB|mucopolysaccharidosis type IIIB|N-acetyl-alpha-glucosaminidase deficiency|mucopolysaccharidosis, type IIIB|MPS 3B|Sanfilippo syndrome type B|MPS III B|mucopolysaccharidosis, type 3B|NAGLU deficiency|MPSIIIB|N-Acetyl-Alpha-D-glucosaminidase deficiency|Sanfilippo syndrome B|mucopolysaccharidosis type IIIB (Sanfilippo B)|mucopolysaccharidosis type 3B	http://purl.obolibrary.org/obo/MONDO_0009656	UMLS:C0086648|DOID:0111394|Orphanet:79270|http://identifiers.org/snomedct/59990008|https://omim.org/entry/252920|NCIT:C84898	ordo_etiological_subtype
MONDO:0010623	biolink:Disease	ichthyosis and male hypogonadism		UMLS:C1839989|MESH:C537365|OMIM:308200|Orphanet:431|SCTID:2355008|GARD:0009612|ICD9:759.89	mondo.json	Ruds|Ichthyosis-male hypogonadism syndrome|rud syndrome|ichthyosis and male hypogonadism	http://purl.obolibrary.org/obo/MONDO_0010623	http://identifiers.org/mesh/C537365|UMLS:C1839989|http://identifiers.org/snomedct/2355008|https://omim.org/entry/308200	
MONDO:0009655	biolink:Disease	mucopolysaccharidosis type 3A	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures.	DOID:0111395|GARD:0007071|OMIM:252900|UMLS:C0086647|NCIT:C84897|Orphanet:79269|SCTID:41572006|GARD:0002649	mondo.json	mucopolysaccharidosis type IIIA|sulfamidase deficiency|Sanfilippo syndrome a|mucopoly-saccharidosis type 3A|MPSIIIA|Sanfilippo A|MPS IIIA|mucopolysaccharidosis, type IIIA|MPS III A|MPS3A|mucopolysaccharidosis type 3A|heparan sulfamidase deficiency|mucopolysaccharidosis type IIIA (Sanfilippo A)|Sanfilippo syndrome type A|MPS 3A|heparan sulfate sulfatase deficiency|mucopolysaccharidosis, type 3A|heparane sulfamidase deficiency	http://purl.obolibrary.org/obo/MONDO_0009655	UMLS:C0086647|http://identifiers.org/snomedct/41572006|DOID:0111395|Orphanet:79269|https://omim.org/entry/252900|NCIT:C84897	ordo_etiological_subtype|gard_rare
MONDO:0010626	biolink:Disease	hyper-IgM syndrome type 1	The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele.	OMIM:308230|SCTID:403835002|UMLS:C0398689|OMIM:605258|OMIM:608106|DOID:0060022|DOID:6620|Wikidata:Q3508611|GARD:0000073|NCIT:C61244|Orphanet:101088|OMIM:606843|OMIM:608184	mondo.json	immunodeficiency with hyper IgM type 1|HIGM1|hyper-IgM syndrome, X-linked|hyper IgM immunodeficiency, x-linked|IHIS|hyper-IgM immunodeficiency, X-linked|HIGM|immunodeficiency 3|XHIGM|immunodeficiency, X-linked, with hyper-IgM, X-linked recessive|hyper-IgM syndrome type 1|CD40 ligand deficiency|immunodeficiency with hyper-IgM, type 1|hyperimmunoglobulin M syndrome|X-linked hyper IgM syndrome|hyper-IgM syndrome due to CD40L deficiency|XHIM|hyper IgM syndrome 1|hyper-IgM syndrome due to CD40 ligand deficiency|hyper-IgM syndrome 1|hyper IgM syndrome|HIGMX-1|hyper-IgM syndrome|X-linked hyper-IgM syndrome	http://purl.obolibrary.org/obo/MONDO_0010626	DOID:6620|UMLS:C0398689|DOID:0060022|NCIT:C61244|https://omim.org/entry/308230|Orphanet:101088|http://identifiers.org/snomedct/403835002	ordo_clinical_subtype|gard_rare
RO:0002563	biolink:NamedThing	interaction relation helper property			mondo.json		http://purl.obolibrary.org/obo/RO_0002563		
MONDO:0009654	biolink:Disease	obsolete mucopolysaccharidoses, unclassified types		MESH:C562442|UMLS:C0220752|OMIM:252700	mondo.json	mucopolysaccharidoses, unclassified types	http://purl.obolibrary.org/obo/MONDO_0009654	https://omim.org/entry/252700|UMLS:C0220752|http://identifiers.org/mesh/C562442	
MONDO:0010625	biolink:Disease	immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein		MESH:C564120|UMLS:C1839982|OMIM:308220	mondo.json	immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein|Gpl115 deficiency	http://purl.obolibrary.org/obo/MONDO_0010625	http://identifiers.org/mesh/C564120|UMLS:C1839982|https://omim.org/entry/308220	
RO:0002564	biolink:NamedThing	molecular interaction relation helper property			mondo.json		http://purl.obolibrary.org/obo/RO_0002564		
MONDO:0009653	biolink:Disease	mucolipidosis type IV	A lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.	GTR:AN1125033|SCTID:111384001|GTR:AN1125032|GTR:AN1124590|OMIM:252650|Orphanet:578|UMLS:C0238286|NCIT:C84896|DOID:0080490|GTR:AN1148743|GARD:0000094|UMLS:CN716584	mondo.json	mucolipidosis IV|mucolipidosis type 4|sialolipidosis|ML4|Berman syndrome|mucolipidosis type IV|mucolipidosis 4|ML 4|ML IV|ganglioside neuraminidase deficiency|ganglioside sialidase deficiency|MLIV	http://purl.obolibrary.org/obo/MONDO_0009653	DOID:0080490|Orphanet:578|https://omim.org/entry/252650|UMLS:CN716584|NCIT:C84896|http://identifiers.org/snomedct/111384001|UMLS:C0238286	ordo_disease|gard_rare
MONDO:0010628	biolink:Disease	immunoglobulin M, level of		OMIM:308250	mondo.json	immunoglobulin M, level of	http://purl.obolibrary.org/obo/MONDO_0010628	https://omim.org/entry/308250	
MONDO:0010627	biolink:Disease	X-linked lymphoproliferative syndrome	X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).	MedDRA:10068348|UMLS:C0549463|Orphanet:2442|SCTID:77121009|NCIT:C61246|ICD9:238.79|DOID:0060705|GARD:0007906	mondo.json	X-linked lymphoproliferative syndrome|lymphoproliferative syndrome, X-linked, 1|X-linked lymphoproliferative syndrome 1|Duncan disease|X-linked lymphoproliferative syndrome type 1|XLP1|Purtilo syndrome|SH2D1A-related lymphoproliferative disease, X-linked|X-linked lymphoproliferative disease|XLP|lymphoproliferative syndrome, X-linked, type 1|lymphoproliferative syndrome, X-linked|lymphoproliferative syndrome X-linked 1	http://purl.obolibrary.org/obo/MONDO_0010627	Orphanet:2442|UMLS:C0549463|NCIT:C61246|http://identifiers.org/snomedct/77121009|DOID:0060705	prototype_pattern|ordo_disease|gard_rare
MONDO:0009652	biolink:Disease	mucolipidosis type III gamma	Mucolipidosis III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.	Orphanet:423470|MESH:C565367|UMLS:C1854896|OMIM:252605|NCIT:C129978	mondo.json	mucolipidosis 3C|mucolipidosis III gamma|ML 3 gamma|mucolipidosis III, Iranian variant form|mucolipidosis III, variant form|mucolipidosis 3 gamma|ML 3C|ML III gamma|mucolipidosis III, complementation group C|mucolipidosis type 3 gamma	http://purl.obolibrary.org/obo/MONDO_0009652	http://identifiers.org/mesh/C565367|NCIT:C129978|Orphanet:423470|UMLS:C1854896|https://omim.org/entry/252605	ordo_clinical_subtype
NCIT:C12922	biolink:NamedThing	Neoplastic Cell			mondo.json		http://purl.obolibrary.org/obo/NCIT_C12922		http://purl.obolibrary.org/obo/NCIT_C157711|http://purl.obolibrary.org/obo/NCIT_C168661|http://purl.obolibrary.org/obo/NCIT_C168662|http://purl.obolibrary.org/obo/NCIT_C168657|http://purl.obolibrary.org/obo/NCIT_C168658|http://purl.obolibrary.org/obo/NCIT_C168655|http://purl.obolibrary.org/obo/NCIT_C168656
MONDO:0009651	biolink:Disease	obsolete pseudo-Hurler polydystrophy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009651		ordo_clinical_subtype
MONDO:0009650	biolink:Disease	mucolipidosis type II	Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.	NCIT:C61270|MESH:C538602|SCTID:70199000|Orphanet:576|UMLS:C0020725|DOID:0080070|UMLS:C2673377|GARD:0006749|OMIM:252500	mondo.json	ML disorder type 2|ML 2 Alpha/Beta|mucolipidosis II|N-acetylglucosamine 1-phosphotransferase deficiency|I cell disease|I-cell disease|mucolipidosis 2|mucolipidosis type II|mucolipidosis II alpha/beta|inclusion cell disease|N-acetylglucosamine 1phosphotransferase deficiency|mucolipidosis 2 alpha/beta|ML 2|Leroy disease|mucolipidosis type II alpha/beta|GNPTA	http://purl.obolibrary.org/obo/MONDO_0009650	http://identifiers.org/snomedct/70199000|Orphanet:576|NCIT:C61270|https://omim.org/entry/252500|UMLS:C2673377|UMLS:C0020725|DOID:0080070|http://identifiers.org/mesh/C538602	ordo_disease
MONDO:0010629	biolink:Disease	impacted teeth, multiple		OMIM:308280	mondo.json	impacted teeth, multiple	http://purl.obolibrary.org/obo/MONDO_0010629	https://omim.org/entry/308280	
GO:0042537	biolink:NamedThing	benzene-containing compound metabolic process	The chemical reactions and pathways involving benzene, C6H6, a volatile, very inflammable liquid, contained in the naphtha produced by the destructive distillation of coal, from which it is separated by fractional distillation, or any of its derivatives.		mondo.json	benzene-containing compound metabolism|benzene and derivative metabolic process|benzene and derivative metabolism	http://purl.obolibrary.org/obo/GO_0042537		
RO:0002559	biolink:NamedThing	causally influenced by			mondo.json		http://purl.obolibrary.org/obo/RO_0002559		
NCBITaxon:29547	biolink:OrganismalEntity	Epsilonproteobacteria		PMID:11837318|PMID:28484436|GC_ID:11|PMID:29720974|PMID:16403855	mondo.json	Epsilonbacteraeota|Proteobacteria epsilon subdivision|epsilon proteobacteria|e-proteobacteria|Purple bacteria, epsilon subdivision|epsilon subdivision|epsilon subgroup|Campylobacterota	http://purl.obolibrary.org/obo/NCBITaxon_29547		
MONDO:0010631	biolink:Disease	incontinentia pigmenti	Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).	NCIT:C84787|GARD:0006778|UMLS:C0021171|OMIM:308300|UMLS:C0022283|Orphanet:464|Wikipedia:Incongenita_pigmenti|MESH:D007184|SCTID:367520004|DOID:12305|EFO:1000672	mondo.json	Incontinentia pigmenti, type II, formerly|Bloch-Siemens syndrome|Incontinentia pigmenti syndrome|IP|Incontinentia pigmenti, type II|Incontinentia pigmenti type 2 (formerly)|Incontinentia pigmenti, familial Male-lethal type|Bloch-Sulzberger syndrome|incontinentia pigmenti|IP2 (formerly)|incontinentia pigmenti, X-linked dominant	http://purl.obolibrary.org/obo/MONDO_0010631	http://identifiers.org/mesh/D007184|DOID:12305|https://omim.org/entry/308300|UMLS:C0021171|NCIT:C84787|http://identifiers.org/snomedct/367520004|Orphanet:464	ordo_malformation_syndrome
MONDO:0010630	biolink:Disease	imprinting gene related to retinoblastoma		OMIM:308290	mondo.json	imprinting gene related to retinoblastoma	http://purl.obolibrary.org/obo/MONDO_0010630	https://omim.org/entry/308290	
MONDO:0010633	biolink:Disease	iris hypoplasia with glaucoma		OMIM:308500|GARD:0009171|MESH:C535538|UMLS:C1839928	mondo.json	iris hypoplasia and glaucoma|IHG|iris hypoplasia with glaucoma	http://purl.obolibrary.org/obo/MONDO_0010633	UMLS:C1839928|http://identifiers.org/mesh/C535538|https://omim.org/entry/308500	gard_rare
MONDO:0010632	biolink:Disease	developmental and epileptic encephalopathy, 1	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene.	UMLS:C3463992|OMIM:308350|DOID:0080468	mondo.json	early infantile epileptic encephalopathy caused by mutation in arx|early infantile epileptic encephalopathy caused by mutation in ARX|XMESID|infantile epileptic-dyskinetic encephalopathy|EIEE1|infantile spasm syndrome, X-linked 1|developmental and epileptic encephalopathy 1, X-linked recessive|ARX early infantile epileptic encephalopathy|arx early infantile epileptic encephalopathy|Ohtahara syndrome, X-linked|West syndrome, X-linked|epileptic encephalopathy, early infantile, type 1|DEE1|epileptic encephalopathy, early infantile, 1	http://purl.obolibrary.org/obo/MONDO_0010632	UMLS:C3463992|https://omim.org/entry/308350|DOID:0080468	
MONDO:0022602	biolink:Disease	brachydactyly small stature face anomalies		GARD:0000974	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022602		gard_rare
MONDO:0022603	biolink:Disease	brachydactyly tibial hypoplasia		GARD:0000977	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022603		gard_rare
MONDO:0022605	biolink:Disease	obsolete brachymetapody anodontia hypotrichosis albinoidism			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022605		
MONDO:0022606	biolink:Disease	branchial arch disease	A disease that involves the pharyngeal system development.	GARD:0001001	mondo.json	disorder of pharyngeal system development|pharyngeal system development disease|disease of pharyngeal system development	http://purl.obolibrary.org/obo/MONDO_0022606		gard_rare
HGNC:17397	biolink:NamedThing	BANF1			mondo.json		http://identifiers.org/hgnc/17397		
MONDO:0022607	biolink:Disease	extraovarian Brenner tumor of the vagina	A Brenner tumor that involves the vagina.	GARD:0010006	mondo.json	vagina Brenner tumor|extraovarian Brenner tumor of the vagina|Brenner tumor of the vagina	http://purl.obolibrary.org/obo/MONDO_0022607		gard_rare
MONDO:0022608	biolink:Disease	brittle bone syndrome lethal type		GARD:0001018	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022608		gard_rare
MONDO:0022609	biolink:Disease	bronchial adenomas/carcinoids childhood		UMLS:C4013426|GARD:0009313	mondo.json	bronchial carcinoids	http://purl.obolibrary.org/obo/MONDO_0022609	UMLS:C4013426	gard_rare
HP:0100545	biolink:PhenotypicFeature	Arterial stenosis	Narrowing or constriction of the inner surface (lumen) of an artery.	UMLS:C0038449|SNOMEDCT_US:68109007	mondo.json	Narrowing of an artery	http://purl.obolibrary.org/obo/HP_0100545		
HP:0100543	biolink:PhenotypicFeature	Cognitive impairment	Abnormal cognition with deficits in thinking, reasoning, or remembering.	SNOMEDCT_US:386806002|MSH:D060825|UMLS:C0683322|UMLS:C0338656	mondo.json	Cognitive impairment|Cognitive abnormality|Cognitive deficits|Cognitive defects|Intellectual impairment|Abnormality of cognition	http://purl.obolibrary.org/obo/HP_0100543		
MONDO:0009629	biolink:Disease	Desbuquois dysplasia 1	Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene.	OMIM:251450|UMLS:C4012146	mondo.json	DBQD1|Desbuquois dysplasia caused by mutation in CANT1|Desbuquois dysplasia 1|desbuquois syndrome|CANT1 Desbuquois dysplasia|Desbuquois dysplasia type 1|Desbuquois dysplasia, Kim variant|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	http://purl.obolibrary.org/obo/MONDO_0009629	https://omim.org/entry/251450|UMLS:C4012146	
MONDO:0009628	biolink:Disease	obsolete microcolon	A rare congenital abnormality characterized by the presence of an abnormally small colon. It is the result of intestinal underutilization during fetal development.	OMIM:251400|HP:0004388|ICD9:751.5|MESH:C562563|SCTID:18389004|NCIT:C98987	mondo.json	microcolon (disease)|microcolon	http://purl.obolibrary.org/obo/MONDO_0009628	https://omim.org/entry/251400|http://identifiers.org/snomedct/18389004|http://identifiers.org/mesh/C562563|NCIT:C98987	
MONDO:0009627	biolink:Disease	Galloway-Mowat syndrome	Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.	GARD:65|OMIMPS:251300|Orphanet:2065|NCIT:C132195|MESH:C537548|SCTID:721297008|UMLS:C0795949|DOID:0080694|GARD:0000065	mondo.json	nephrosis neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5|microcephaly, hiatal hernia and nephrotic syndrome|nephrosis-neuronal dysmigration syndrome|hiatal hernia-microcephaly-nephrosis, Galloway type|spinocerebellar ataxia, autosomal recessive 5, formerly|Galloway syndrome|GAMOS|nephrosis-microcephaly syndrome|microcephaly, hiatal hernia, and nephrotic syndrome|cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities|cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities|microcephaly nephrosis syndrome|microcephaly-hiatus hernia-nephrotic syndrome|Galloway Mowat syndrome|Galloway-Mowat syndrome	http://purl.obolibrary.org/obo/MONDO_0009627	Orphanet:2065|http://identifiers.org/mesh/C537548|UMLS:C0795949|http://identifiers.org/snomedct/721297008|NCIT:C132195|DOID:0080694|https://omim.org/phenotypicSeries/PS251300	gard_rare|prototype_pattern|ordo_malformation_syndrome
MONDO:0009626	biolink:Disease	pseudo-TORCH syndrome	A Mendelian disease characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.	GARD:0000815|GARD:0012426|SCTID:722390006|DOID:0050656|Orphanet:1229|UMLS:C3489725|OMIMPS:251290	mondo.json	bilateral band-like calcification with polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-TORCH syndrome|BLCPMG|Baraitser-Brett-Piesowicz syndrome|congenital intrauterine infection-like syndrome|microcephaly - intracranial calcification - intellectual disability|Baraitser Brett Piesowicz syndrome|microcephaly intracranial calcification|Baraitser-Reardon syndrome|band-like calcification with simplified gyration and polymicrogyria|BLC-PMG	http://purl.obolibrary.org/obo/MONDO_0009626	Orphanet:1229|DOID:0050656|UMLS:C3489725|http://identifiers.org/snomedct/722390006|https://omim.org/phenotypicSeries/PS251290	gard_rare|ordo_malformation_syndrome|prototype_pattern
MONDO:0009625	biolink:Disease	diencephalic-mesencephalic junction dysplasia syndrome 1		GARD:0008510|UMLS:C1855055|MESH:C537546|OMIM:251280	mondo.json	MISSBC|microcephaly, seizures, spasticity, and brain calcifications|DMJDS1|microcephaly with spastic quadriplegia|recessive microcephaly with spastic quadriplegia	http://purl.obolibrary.org/obo/MONDO_0009625	http://identifiers.org/mesh/C537546|UMLS:C1855055|https://omim.org/entry/251280	gard_rare
MONDO:0009624	biolink:Disease	microcephaly and chorioretinopathy 1	An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy.	OMIM:251270|NCIT:C129306|DOID:0080105|Orphanet:2518	mondo.json	Pseudotoxoplasmosis syndrome|microcephaly and chorioretinopathy, autosomal recessive, 1|autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome|microcephaly and chorioretinopathy, autosomal recessive, type 1|microcephaly and chorioretinopathy 1|microcephaly and chorioretinopathy type 1|autosomal recessive chorioretinopathy-microcephaly syndrome|microcephaly and chorioretinopathy caused by mutation in TUBGCP6|TUBGCP6 microcephaly and chorioretinopathy|MCCRP1	http://purl.obolibrary.org/obo/MONDO_0009624	Orphanet:2518|DOID:0080105|NCIT:C129306|https://omim.org/entry/251270	ordo_malformation_syndrome
MONDO:0010613	biolink:Disease	inborn glycerol kinase deficiency	An acquired metabolic disease that has its basis in the disruption of glycerol kinase activity.	SCTID:124322002|DOID:0060363|OMIM:307030|Orphanet:308993	mondo.json	GK1 deficiency|glycerol kinase deficiency|GKD|inborn error of glycerol kinase activity|inborn glycerol kinase activity disorder|rare inborn error of glycerol kinase activity|glycerol kinase deficiency, X-linked recessive|hyperglycerolemia|GK deficiency	http://purl.obolibrary.org/obo/MONDO_0010613	DOID:0060363|https://omim.org/entry/307030|http://identifiers.org/snomedct/124322002|Orphanet:308993	disease_grouping|ordo_group_of_disorders
MONDO:0010612	biolink:Disease	hydrocephaly-cerebellar agenesis syndrome	This syndrome is characterised by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported.	Orphanet:1397|GARD:0001200|MESH:C564407|OMIM:307010|UMLS:C1844005	mondo.json	X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome|hydrocephalus with cerebellar agenesis|cerebellum agenesis hydrocephaly	http://purl.obolibrary.org/obo/MONDO_0010612	UMLS:C1844005|Orphanet:1397|http://identifiers.org/mesh/C564407|https://omim.org/entry/307010	ordo_malformation_syndrome|gard_rare
MONDO:0009623	biolink:Disease	Nijmegen breakage syndrome	Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.	GARD:0003904|MedDRA:10067857|MESH:D049932|UMLS:C0398791|UMLS:CN860323|SCTID:234638009|NCIT:C4692|OMIM:251260|DOID:7400|Orphanet:647	mondo.json	Nonsyndromal microcephaly, autosomal recessive, with normal intelligence|Seemanova syndrome 2|immunodeficiency-microcephaly-chromosomal instability syndrome|Nijmegen breakage syndrome|AT V1|microcephaly immunodeficiency lymphoreticuloma|Nonsyndromal microcephaly autosomal recessive with normal intelligence|Seemanova syndrome|microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies|ataxia-telangiectasia variant V2|ataxia-telangiectasia, variant 1|immunodeficiency, microcephaly, and chromosomal instability|ataxia-telangiectasia variant V1|microcephaly, normal intelligence and immunodeficiency|microcephaly-immunodeficiency-lymphoreticuloma syndrome|NBs|Berlin breakage syndrome|Seemanova syndrome type 2|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies	http://purl.obolibrary.org/obo/MONDO_0009623	NCIT:C4692|DOID:7400|UMLS:C0398791|Orphanet:647|UMLS:CN860323|http://identifiers.org/snomedct/234638009|http://identifiers.org/mesh/D049932|https://omim.org/entry/251260	ordo_malformation_syndrome|gard_rare
RO:0002551	biolink:NamedThing	has skeleton	A relation between a segment or subdivision of an organism and the maximal subdivision of material entities that provides structural support for that segment or subdivision.		mondo.json		http://purl.obolibrary.org/obo/RO_0002551		
HGNC:29347	biolink:NamedThing	KLHL15			mondo.json		http://identifiers.org/hgnc/29347		
MONDO:0010615	biolink:Disease	isolated growth hormone deficiency type III		SCTID:234533006|DOID:0060875|OMIM:307200|GARD:0003921|MESH:C537149|Orphanet:231692	mondo.json	hypogammaglobulinemia and isolated Growth hormone deficiency, X-linked|congenital isolated growth hormone deficiency type III|X-linked hypogammaglobulinemia and isolated growth hormone deficiency|Growth hormone deficiency with hypogammaglobulinemia|isolated growth hormone deficiency, type IIi, with agammaglobulinemia, X-linked recessive|X-linked agammaglobulinemia and isolated growth hormone deficiency|congenital IGHD type III|growth hormone deficiency with hypogammaglobulinemia|X-linked IGHD|IGHD III|isolated growth hormone deficiency type 3|isolated growth hormone deficiency type III|IGHD3|X-linked isolated growth hormone deficiency|IGHD 3|Fleisher syndrome|congenital isolated GH deficiency type III|agammaglobulinemia and isolated Growth hormone deficiency, X-linked|isolated growth hormone deficiency, type III|isolated growth hormone deficiency, type 3	http://purl.obolibrary.org/obo/MONDO_0010615	Orphanet:231692|http://identifiers.org/mesh/C537149|http://identifiers.org/snomedct/234533006|https://omim.org/entry/307200|DOID:0060875	gard_rare|ordo_clinical_subtype
MONDO:0009622	biolink:Disease	Jawad syndrome	Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.	OMIM:251255|Orphanet:313795|UMLS:C0796063	mondo.json	Kelly syndrome|microcephaly with intellectual disability and digital anomalies|JAWAD syndrome|Jawad syndrome|microcephaly with mental retardation and digital anomalies|JWDS	http://purl.obolibrary.org/obo/MONDO_0009622	UMLS:C0796063|https://omim.org/entry/251255|Orphanet:313795	ordo_malformation_syndrome
MONDO:0010614	biolink:Disease	X-linked congenital generalized hypertrichosis	X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.	OMIM:307150|GARD:0002863|Orphanet:79495|MESH:C538388	mondo.json	congenital generalized hypertrichosis, Macias-Flores type|chromosome Xq27.1 Interchromosomal insertion syndrome|hCG|hypertrichosis, congenital generalized|hypertrichosis, congenital generalized, X-linked dominant|hypertrichosis congenital generalized X-linked|Macias-Flores Garcia-Cruz Rivera syndrome|chromosome Xq27.1 interchromosomal insertion syndrome|Cgh|HTC2|Macias Flores-Garcia Cruz-Rivera syndrome	http://purl.obolibrary.org/obo/MONDO_0010614	http://identifiers.org/mesh/C538388|Orphanet:79495|https://omim.org/entry/307150	ordo_clinical_subtype|gard_rare
MONDO:0009621	biolink:Disease	microcephaly-cervical spine fusion anomalies syndrome	Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive.	OMIM:251250|UMLS:C0796066|GARD:0003610|MESH:C537325|SCTID:715462003|Orphanet:2522	mondo.json	microcephaly with cervical spine fusion anomalies|microcephaly cervical spine fusion anomalies|microcephaly, mild mental retardation, short stature, and skeletal anomalies|microcephaly, mild intellectual disability, short stature, and skeletal anomalies	http://purl.obolibrary.org/obo/MONDO_0009621	UMLS:C0796066|Orphanet:2522|http://identifiers.org/mesh/C537325|https://omim.org/entry/251250|http://identifiers.org/snomedct/715462003	ordo_malformation_syndrome
MONDO:0009620	biolink:Disease	Say-Barber-Miller syndrome	Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.	MESH:C536618|GARD:0000239|OMIM:251240|Orphanet:3132|SCTID:721903007	mondo.json	microcephaly hypogammaglobulinemia abnormal immunity|microcephaly with chemotactic defect and transient hypogammaglobulinemia|microcephaly-hypogammaglobulinemia-abnormal immunity syndrome|Say Barber Miller syndrome	http://purl.obolibrary.org/obo/MONDO_0009620	Orphanet:3132|http://identifiers.org/mesh/C536618|https://omim.org/entry/251240|http://identifiers.org/snomedct/721903007	ordo_malformation_syndrome|gard_rare
MONDO:0010617	biolink:Disease	male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome	This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	OMIM:307500|Orphanet:2234|MESH:C564406|SCTID:722459008	mondo.json	Sohval-Soffer syndrome|hypogonadism, MALE, with intellectual disability and skeletal anomalies|hypogonadism, MALE, with mental retardation and skeletal anomalies	http://purl.obolibrary.org/obo/MONDO_0010617	Orphanet:2234|http://identifiers.org/mesh/C564406|http://identifiers.org/snomedct/722459008|https://omim.org/entry/307500	ordo_malformation_syndrome
MONDO:0010616	biolink:Disease	obsolete hypogonadism, male			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010616		
MONDO:0010619	biolink:Disease	X-linked dominant hypophosphatemic rickets	X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.	OMIM:307800|GARD:0012943|DOID:0050445|SCTID:82236004|ICD10CM:E83.3|OMIM:300554|MESH:D053098|Orphanet:89936|NCIT:C123265	mondo.json	XLH|XLHR|HPDR|X-linked hereditary hypophosphatemic rickets|hypophophatemic vitamin D-resistant rickets|hypophosphatemic rickets, X-linked dominant|hypophosphatemia, X-linked|hereditary hypophosphatemic rickets, X-linked|X-linked hypophosphatemic rickets|hypophosphatemic rickets X-linked dominant|hypophosphatemic rickets, X-linked dominant, X-linked dominant|X-linked dominant hypophosphatemic rickets|hypophosphatemia, vitamin D-resistant rickets|hypophosphatemic vitamin D-resistant rickets|HYP|X-linked hypophosphatemia|rickets, vitamin D-resistant|hypophosphatemic rickets, X-linked|hypophophatemia, X-linked|vitamin D-resistant rickets, X-linked	http://purl.obolibrary.org/obo/MONDO_0010619	https://omim.org/entry/307800|Orphanet:89936|DOID:0050445|http://identifiers.org/snomedct/82236004	ordo_disease
MONDO:0010618	biolink:Disease	familial isolated hypoparathyroidism due to agenesis of parathyroid gland	Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis).	NCIT:C131079|MESH:C563238|OMIM:307700|Orphanet:2239|UMLS:CN201292	mondo.json	parathyroid glands, agenesis of|HYPX|X-linked hypoparathyroidism|hypoparathyroidism, X-linked	http://purl.obolibrary.org/obo/MONDO_0010618	Orphanet:2239|UMLS:CN201292|NCIT:C131079|http://identifiers.org/mesh/C563238|https://omim.org/entry/307700	ordo_clinical_subtype
HGNC:2172	biolink:NamedThing	CNTN2			mondo.json		http://identifiers.org/hgnc/2172		
MONDO:0010620	biolink:Disease	hypouricemia, familial renal, due to tubular hypersecretion		OMIM:307830|UMLS:C1843972|MESH:C564405	mondo.json	hypouricemia, familial renal, due to tubular hypersecretion	http://purl.obolibrary.org/obo/MONDO_0010620	http://identifiers.org/mesh/C564405|UMLS:C1843972|https://omim.org/entry/307830	
HGNC:2171	biolink:NamedThing	CNTN1			mondo.json		http://identifiers.org/hgnc/2171		
MONDO:0010622	biolink:Disease	recessive X-linked ichthyosis	A genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.	SCTID:3944006|OMIM:308100|DECIPHER:27|UMLS:C0079588|Orphanet:461|NCIT:C84779|MedDRA:10048063|Orphanet:281090|DOID:1700|GARD:0007904	mondo.json	XLI|X-linked placental steryl-sulphatase deficiency|steroid sulfatase deficiency|placental steroid sulfatase deficiency|ichthyosis, X-linked|SSDD|X-linked ichthyosis|ichthyosis, X-linked, complicated|X-linked recessive ichthyosis|recessive X-linked ichthyosis|RXLI|X linked ichthyosis|ichthyosis , X-linked, X-linked recessive|X-linked ichthyosis with steryl-sulphatase deficiency|STS deficiency|ichthyosis (disease), X-linked|steroid sulfatase deficiency disease	http://purl.obolibrary.org/obo/MONDO_0010622	Orphanet:461|UMLS:C0079588|https://omim.org/entry/308100|http://identifiers.org/snomedct/3944006|DOID:1700|NCIT:C84779	ordo_disease
MONDO:0010621	biolink:Disease	CHILD syndrome	CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.	SCTID:17608003|GARD:0006039|MESH:C562515|Orphanet:139|UMLS:C0265267|ICD9:759.89|OMIM:308050	mondo.json	child syndrome|congenital hemidysplasia with ichthyosiform nevus and limbs defects|ichthyosis, child syndrome|CHILD syndrome, X-linked dominant|child nevus|CHILD syndrome|ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs|congenital hemidysplasia with ichthyosiform erythroderma and limb defects|congenital hemidysplasia with ichthyosiform nevus and limb defects	http://purl.obolibrary.org/obo/MONDO_0010621	http://identifiers.org/snomedct/17608003|https://omim.org/entry/308050|http://identifiers.org/mesh/C562515|Orphanet:139|UMLS:C0265267	ordo_disease|gard_rare
HGNC:17367	biolink:NamedThing	IFT57			mondo.json		http://identifiers.org/hgnc/17367		
HGNC:30343	biolink:NamedThing	DNAJC13			mondo.json		http://identifiers.org/hgnc/30343		
HP:0100547	biolink:PhenotypicFeature	Abnormality of forebrain morphology	An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.	UMLS:C4020967	mondo.json	Abnormal shape of forebrain|Abnormality of the forebrain	http://purl.obolibrary.org/obo/HP_0100547		
HGNC:17366	biolink:NamedThing	AASS			mondo.json		http://identifiers.org/hgnc/17366		
MONDO:0010609	biolink:Disease	obsolete Hirschsprung disease with type d brachydactyly			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010609		
MONDO:0009639	biolink:Disease	obsolete mitochondrial myopathy with lactic acidosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009639		
MONDO:0009638	biolink:Disease	mitochondrial myopathy with a defect in mitochondrial-protein transport		UMLS:C1855034|OMIM:251945|MESH:C565376	mondo.json	mitochondrial myopathy with a defect in mitochondrial-protein transport	http://purl.obolibrary.org/obo/MONDO_0009638	https://omim.org/entry/251945|UMLS:C1855034|http://identifiers.org/mesh/C565376	
MONDO:0009637	biolink:Disease	inborn mitochondrial myopathy	Myopathy caused by mitochondrial abnormalities.	MESH:D017240|GARD:0011956|UMLS:C0162670|Orphanet:206966|MedDRA:10027710|DOID:699|NCIT:C101328	mondo.json	mitochondrial myopathy|mitochondrial cytopathy	http://purl.obolibrary.org/obo/MONDO_0009637	UMLS:C0162670|DOID:699|NCIT:C101328|http://identifiers.org/mesh/D017240|Orphanet:206966	disease_grouping|ordo_group_of_disorders
MONDO:0009636	biolink:Disease	mitochondrial DNA depletion syndrome 3	Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene.	OMIM:251880|UMLS:C3151513|UMLS:C4310935|DOID:0080121|Orphanet:279934	mondo.json	mitochondrial DNA depletion syndrome 3|mitochondrial DNA depletion syndrome 3 (hepatocerebral type)|DGUOK mitochondrial DNA depletion syndrome|MTDPS3|mitochondrial DNA depletion syndrome type 3|mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency|mitochondrial DNA depletion syndrome caused by mutation in DGUOK	http://purl.obolibrary.org/obo/MONDO_0009636	DOID:0080121|UMLS:C4310935|UMLS:C3151513|Orphanet:279934|https://omim.org/entry/251880	ordo_disease
MONDO:0010602	biolink:Disease	hemophilia A	The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.	MESH:D006467|GARD:0006591|UMLS:CN239112|OMIM:134500|MedDRA:10016080|UMLS:C0019069|OMIM:306700|ICD9:286.0|NCIT:C27146|Orphanet:98878|EFO:0007267|SCTID:234440005|DOID:12134	mondo.json	hem A|hereditary Factor VIII deficiency disease|classic hemophilia|hemophilia, classic|factor VIII deficiency|hemophilia A, congenital|congenital factor VIII disorder|hemophilia A|classical hemophilia|HEMA|hereditary Factor VIII deficiency|autosomal hemophilia a|hemophilia type a|Subhemophilia|hemophilia type A|factor 8 deficiency|Haemophilia A|hemophilia a, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0010602	https://omim.org/entry/306700|UMLS:CN239112|https://omim.org/entry/134500|Orphanet:98878|UMLS:C0019069|NCIT:C27146|DOID:12134|http://identifiers.org/mesh/D006467|http://identifiers.org/snomedct/234440005	ordo_disease
MONDO:0009635	biolink:Disease	microvillus inclusion disease	Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium.	UMLS:C0341306|Orphanet:2290|DOID:0060775|SCTID:235729009|OMIM:251850|ICD9:579.8|GARD:0007039|MedDRA:10068494	mondo.json	MVID|microvillous inclusion disease|diarrhea 2, with microvillus atrophy|microvillus inclusion disease|Davidson's disease|congenital microvillus atrophy|familial enteropathy, microvillus|Davidson disease|congenital familial protracted diarrhea with enterocyte Brush-border abnormalities|MYO5B secretory diarrhea|microvillus atrophy, congenital|diarrhea 2 with microvillus atrophy|intractable diarrhea of infancy|congenital microvillous atrophy|MVD|DIAR2|secretory diarrhea caused by mutation in MYO5B|congenital familial protracted diarrhea with enterocyte brush-border abnormalities|congenital familial protracted diarrhea	http://purl.obolibrary.org/obo/MONDO_0009635	Orphanet:2290|http://identifiers.org/snomedct/235729009|UMLS:C0341306|DOID:0060775|https://omim.org/entry/251850	ordo_disease
GO:0042552	biolink:NamedThing	myelination	The process in which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier.		mondo.json	myelinogenesis	http://purl.obolibrary.org/obo/GO_0042552		
HGNC:29357	biolink:NamedThing	ASXL3			mondo.json		http://identifiers.org/hgnc/29357		
MONDO:0010601	biolink:Disease	obsolete gynecomastia, familial	OBSOLETE. An instance of gynecomastia that is caused by an inherited modification of the individual's genome.	OMIM:306500|MESH:C564416|UMLS:C1844375	mondo.json	gynecomastia, familial|hereditary gynecomastia	http://purl.obolibrary.org/obo/MONDO_0010601	UMLS:C1844375|http://identifiers.org/mesh/C564416|https://omim.org/entry/306500	
MONDO:0009634	biolink:Disease	microtia with meatal atresia and conductive deafness		OMIM:251800|GARD:0000357|UMLS:C2931502|GARD:0003657|MESH:C537469	mondo.json	Gupta Patton syndrome|familial microtia with meatal atresia and conductive deafness|familial microtia and meatal atresia|microtia, meatal atresia and conductive deafness|microtia with meatal atresia and conductive deafness|microtia meatal atresia deafness dominant	http://purl.obolibrary.org/obo/MONDO_0009634	http://identifiers.org/mesh/C537469|https://omim.org/entry/251800|UMLS:C2931502	gard_rare
MONDO:0009633	biolink:Disease	microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma		OMIM:251750|UMLS:C3538951	mondo.json	MSPKA|microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	http://purl.obolibrary.org/obo/MONDO_0009633	UMLS:C3538951|https://omim.org/entry/251750	
MONDO:0010604	biolink:Disease	hemophilia B	Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.	UMLS:C0008533|EFO:0009154|NCIT:C26721|SCTID:41788008|OMIM:306900|ICD9:286.1|DOID:12259|Orphanet:98879|GARD:0008732|MESH:D002836|MedDRA:10016077	mondo.json	congenital factor IX deficiency|factor 9 deficiency|congenital factor IX disorder|hereditary Factor IX deficiency disease|hemophilia B(M)|deficiency, functional factor IX|plasma thromboplastin component deficiency|hemophilia type B|hem B|hemophilia B Leyden|factor IX deficiency|HEMB|F9 deficiency|hereditary Factor IX deficiency|hemophilia b, X-linked recessive|Christmas disease|hemophilia B	http://purl.obolibrary.org/obo/MONDO_0010604	https://omim.org/entry/306900|http://identifiers.org/mesh/D002836|Orphanet:98879|UMLS:C0008533|DOID:12259|http://identifiers.org/snomedct/41788008|NCIT:C26721	gard_rare|ordo_disease
MONDO:0010603	biolink:Disease	hemophilia A with vascular abnormality		MESH:C564415|OMIM:306800|UMLS:C1844137	mondo.json	hemophilia A with vascular abnormality	http://purl.obolibrary.org/obo/MONDO_0010603	https://omim.org/entry/306800|UMLS:C1844137|http://identifiers.org/mesh/C564415	
MONDO:0009632	biolink:Disease	microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies		MESH:C566884|UMLS:C1968637|OMIM:251700	mondo.json	microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies	http://purl.obolibrary.org/obo/MONDO_0009632	http://identifiers.org/mesh/C566884|https://omim.org/entry/251700|UMLS:C1968637	
MONDO:0009631	biolink:Disease	isolated microphthalmia 1	A microphthalmia that has material basis in variation in the chromosomal region 14q32.	UMLS:C1855052|DOID:0060840|OMIM:251600|MESH:C565377|Orphanet:2542	mondo.json	Mcop|microphthalmos, autosomal recessive|isolated microphthalmia type 1|microphthalmia, isolated 1|anophthalmia, clinical, isolated|MCOP1	http://purl.obolibrary.org/obo/MONDO_0009631	UMLS:C1855052|http://identifiers.org/mesh/C565377|https://omim.org/entry/251600|DOID:0060840	
MONDO:0010606	biolink:Disease	hernia, anterior diaphragmatic		MESH:C564413|OMIM:306950	mondo.json	hernia, anterior diaphragmatic	http://purl.obolibrary.org/obo/MONDO_0010606	https://omim.org/entry/306950|http://identifiers.org/mesh/C564413	
MONDO:0009630	biolink:Disease	microphthalmia, isolated, with coloboma 4		UMLS:C1855053|SCTID:715771008|MESH:C565378|OMIM:251505	mondo.json	MCOPCB4|microphthalmia with colobomatous cyst|microphthalmia, isolated, with coloboma type 4|microphthalmia, isolated, with coloboma 4	http://purl.obolibrary.org/obo/MONDO_0009630	UMLS:C1855053|http://identifiers.org/mesh/C565378|http://identifiers.org/snomedct/715771008|https://omim.org/entry/251505	
MONDO:0010605	biolink:Disease	hemopoietic proliferation		OMIM:306930	mondo.json	hemopoietic proliferation	http://purl.obolibrary.org/obo/MONDO_0010605	https://omim.org/entry/306930	
MONDO:0010608	biolink:Disease	Hhhh syndrome		MESH:C564411|UMLS:C1844019|OMIM:306960	mondo.json	hereditary Hemihypotrophy hemiparesis hemiathetosis syndrome|Hhhh syndrome	http://purl.obolibrary.org/obo/MONDO_0010608	UMLS:C1844019|https://omim.org/entry/306960|http://identifiers.org/mesh/C564411	
MONDO:0010607	biolink:Disease	heterotaxy, visceral, 1, X-linked	X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia.	OMIM:306955|GARD:0008591|UMLS:C1844020|MESH:C538116|EFO:0009136	mondo.json	congenital heart defects, nonsyndromic, 1, X-linked, X-linked recessive|X-linked visceral heterotaxy 1|heterotaxy, visceral, X-linked|laterality, X-linked|HTX1|dextrocardia with Other Cardiac malformations|situs inversus, Complex Cardiac defects, and splenic defects, X-linked|heterotaxy, visceral, 1, X-linked, X-linked recessive|congenital heart defects, multiple types, 1, X-linked|heterotaxy, visceral, 1, X-linked|ZIC3 visceral heterotaxy|visceral heterotaxy caused by mutation in ZIC3	http://purl.obolibrary.org/obo/MONDO_0010607	https://omim.org/entry/306955|http://identifiers.org/mesh/C538116|UMLS:C1844020	gard_rare
HGNC:2186	biolink:NamedThing	COL11A1			mondo.json		http://identifiers.org/hgnc/2186		
HGNC:2185	biolink:NamedThing	COL10A1			mondo.json		http://identifiers.org/hgnc/2185		
HGNC:2183	biolink:NamedThing	VPS13B			mondo.json		http://identifiers.org/hgnc/2183		
GO:0042558	biolink:NamedThing	pteridine-containing compound metabolic process	The chemical reactions and pathways involving any compound containing pteridine (pyrazino(2,3-dipyrimidine)), e.g. pteroic acid, xanthopterin and folic acid.		mondo.json	pterin metabolism|pteridine-containing compound metabolism|pteridine and derivative metabolic process|pterin metabolic process|pteridine and derivative metabolism	http://purl.obolibrary.org/obo/GO_0042558		
MONDO:0010611	biolink:Disease	X-linked hydrocephalus with stenosis of the aqueduct of Sylvius	A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.	GARD:0000434|SCTID:71779008|MESH:C536078|OMIM:307000|Orphanet:2182	mondo.json	XLAS|X-linked hydrocephalus with stenosis of the aqueduct of Sylvius|HYCX|hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction|aqueductal stenosis, X-linked|hydrocephalus due to aqueductal stenosis, X-linked recessive|HSAS|Bickers-Adams syndrome|X-linked hydrocephalus|HSAS1|X-linked hydrocephalus with stenosis of aqueduct of Sylvius|hydrocephalus with congenital idiopathic intestinal pseudoobstruction, X-linked recessive|hydrocephalus due to congenital stenosis of aqueduct of Sylvius|hydrocephalus, X-linked|X-linked HSAS|hydrocephalus with stenosis of the aqueduct of Sylvius|hydrocephalus with hirschsprung disease, X-linked recessive|X-linked acqueductal stenosis	http://purl.obolibrary.org/obo/MONDO_0010611	http://identifiers.org/mesh/C536078|https://omim.org/entry/307000|Orphanet:2182|http://identifiers.org/snomedct/71779008	ordo_clinical_subtype
HGNC:2180	biolink:NamedThing	COCH			mondo.json		http://identifiers.org/hgnc/2180		
MONDO:0010610	biolink:Disease	holoprosencephaly-hypokinesia-congenital contractures syndrome	An extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested.	GARD:0003788|SCTID:716169009|ICD10CM:Q04.2|MESH:C564409|Orphanet:2570|OMIM:306990	mondo.json	holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome|holoprosencephaly with fetal akinesia/hypokinesia sequence|Morse-Rawnsley-Sargent syndrome	http://purl.obolibrary.org/obo/MONDO_0010610	http://identifiers.org/mesh/C564409|http://identifiers.org/snomedct/716169009|https://omim.org/entry/306990|Orphanet:2570	ordo_malformation_syndrome
MONDO:0034641	biolink:Disease	obsolete rare genetic hyperkinetic movement disorder		Orphanet:496916	mondo.json		http://purl.obolibrary.org/obo/MONDO_0034641	Orphanet:496916	
HGNC:2188	biolink:NamedThing	COL12A1			mondo.json		http://identifiers.org/hgnc/2188		
HGNC:2187	biolink:NamedThing	COL11A2			mondo.json		http://identifiers.org/hgnc/2187		
MONDO:0019010	biolink:Disease	congenital isolated hyperinsulinism	Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism.	NCIT:C122923|GARD:0003947|Orphanet:657	mondo.json	hypoglycemia hyperinsulinemic of infancy|congenital hyperinsulinism|PHHI|persistent hyperinsulinemic hypoglycemia of infancy|hyperinsulinemic hypoglycemia familial|chi|hyperinsulinism familial with pancreatic nesidioblastosis|hyperinsulinism congenital	http://purl.obolibrary.org/obo/MONDO_0019010	NCIT:C122923|Orphanet:657	disease_grouping|ordo_group_of_disorders
MONDO:0022662	biolink:Disease	carpo tarsal osteolysis recessive		GARD:0001129	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022662		gard_rare
HGNC:17340	biolink:NamedThing	PRPF8			mondo.json		http://identifiers.org/hgnc/17340		
MONDO:0007029	biolink:Disease	branchio-oto-renal syndrome	A syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).	GARD:0010147|Orphanet:107|Wikipedia:Branchio-oto-renal_syndrome|UMLS:C0265234|DOID:14702|NCIT:C98983|EFO:1001251|SCTID:290006|MedDRA:10071135|MESH:D019280|ICD9:759.89|UMLS:CN043574	mondo.json	Melnick-Fraser syndrome|Branchio oto renal syndrome|Branchio-Oto-renal syndrome|branchiootorenal syndrome|branchiootorenal dysplasia|Branchio-otorenal dysplasia|branchio-oto-renal syndrome|bor syndrome	http://purl.obolibrary.org/obo/MONDO_0007029	UMLS:C0265234|Orphanet:107|http://identifiers.org/snomedct/290006|UMLS:CN043574|http://identifiers.org/mesh/D019280|DOID:14702|NCIT:C98983	ordo_malformation_syndrome
MONDO:0022666	biolink:Disease	cassavism		GARD:0010442	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022666		gard_rare
HGNC:20997	biolink:NamedThing	ZMYND15			mondo.json		http://identifiers.org/hgnc/20997		
MONDO:0007027	biolink:Disease	non-alcoholic steatohepatitis	Fatty replacement and damage to the hepatocytes not related to alcohol use. It may lead to cirrhosis and liver failure.	DOID:0080547|NCIT:C84445|MedDRA:10053219|EFO:1001249	mondo.json	nonalcoholic Steatohepatitis|nash - nonalcoholic Steatohepatitis	http://purl.obolibrary.org/obo/MONDO_0007027	DOID:0080547|NCIT:C84445	
MONDO:0020005	biolink:Disease	obsolete rare endocrine disease	OBSOLETE. Rare endocrine system disease.	Orphanet:97978|UMLS:CN206938	mondo.json	rare endocrine system disease	http://purl.obolibrary.org/obo/MONDO_0020005	UMLS:CN206938|Orphanet:97978	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0010679	biolink:Disease	Duchenne muscular dystrophy	Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.	SCTID:76670001|MESH:D020388|MedDRA:10013801|Orphanet:98896|NCIT:C75482|OMIM:310200|UMLS:C0013264|GARD:0006291|DOID:11723	mondo.json	muscular dystrophy, Duchenne|DMD|muscular dystrophy, pseudohypertrophic progressive, Duchenne type|muscular dystrophy, Duchenne type|Duchenne muscular dystrophy|severe dystrophinopathy, Duchenne type|Duchenne muscular dystrophy, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0010679	DOID:11723|https://omim.org/entry/310200|http://identifiers.org/mesh/D020388|http://identifiers.org/snomedct/76670001|UMLS:C0013264|Orphanet:98896|NCIT:C75482	ordo_disease|gard_rare
MONDO:0020004	biolink:Disease	obsolete rare eye disease	OBSOLETE. Rare eye disease.	Orphanet:97966|UMLS:CN206937	mondo.json	rare eye disease	http://purl.obolibrary.org/obo/MONDO_0020004	UMLS:CN206937|Orphanet:97966	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0009689	biolink:Disease	congenital myasthenic syndrome 6	Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner.	NCIT:C132292|OMIM:254210|GARD:0009689|ICD9:358.00|DOID:0110671|MESH:C535759|SCTID:230670003|UMLS:C0393929	mondo.json	congenital myasthenic syndrome caused by mutation in CHAT|FIM, formerly|congenital myasthenic syndrome type Ia2, formerly|CMS1A2|CMS1A2, formerly|CMS1A|familial infantile myasthenia|myasthenia, familial infantile, formerly|congenital myasthenic syndrome type 6|myasthenia gravis, familial infantile, 2|CMS-ea|myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|CMS w/episodic apnea|myasthenia, familial infantile|FIMG2|FIMG2 (formerly)|myasthenic syndrome, congenital, 6, presynaptic|congenital presynaptic myasthenic syndrome associated with episodic apnea|CMSEA|myasthenia gravis familial infantile 2 (formerly)|presynaptic congenital myasthenic syndrome 6|myasthenic syndrome, congenital, associated with episodic apnea|Cms Ia2, formerly|familial infantile myasthenia gravis 2|FIMG2, formerly|CMS Ia2|Cms Ia2|CMS Ia2, formerly|congenital myasthenic syndrome 6, presynaptic|congenital myasthenic syndrome 6|congenital myasthenic syndrome with episodic apnea|FIM|myasthenia familial infantile|CHAT congenital myasthenic syndrome|myasthenic syndrome congenital associated with episodic apnea|CMS6|congenital myasthenic syndrome type Ia2|congenital myasthenic syndrome type 1a|myasthenia gravis, familial infantile, 2, formerly|congenital myasthenic syndrome type Ia	http://purl.obolibrary.org/obo/MONDO_0009689	NCIT:C132292|http://identifiers.org/snomedct/230670003|http://identifiers.org/mesh/C535759|DOID:0110671|UMLS:C0393929|https://omim.org/entry/254210	gard_rare
MONDO:0007028	biolink:Disease	rotator cuff syndrome	Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder.	ICD10CM:M75.1|UMLS:C0263912|EFO:1001250|Wikipedia:Rotator_cuff_tear|SCTID:4106009|ICD10WHO:M75.1|ICD9:726.10	mondo.json	rotator cuff tear	http://purl.obolibrary.org/obo/MONDO_0007028	http://identifiers.org/snomedct/4106009|https://icd.who.int/browse10/2019/en#/M75.1|UMLS:C0263912|http://purl.bioontology.org/ontology/ICD10CM/M75.1	
MONDO:0010678	biolink:Disease	muscular dystrophy, progressive Pectorodorsal		UMLS:C1839669|MESH:C564095|OMIM:310095	mondo.json	muscular dystrophy, progressive Pectorodorsal|muscular dystrophy, progressive, involving shoulder girdle and back	http://purl.obolibrary.org/obo/MONDO_0010678	https://omim.org/entry/310095|http://identifiers.org/mesh/C564095|UMLS:C1839669	
GO:0042562	biolink:NamedThing	hormone binding	Binding to an hormone, a naturally occurring substance secreted by specialized cells that affect the metabolism or behavior of cells possessing functional receptors for the hormone. Hormones may be produced by the same, or different, cell as express the receptor.		mondo.json		http://purl.obolibrary.org/obo/GO_0042562		
MONDO:0009688	biolink:Disease	myasthenia gravis	Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles.	DOID:437|NCIT:C60989|EFO:0004991|ICD9:358.00|SCTID:91637004|MESH:D009157|GARD:0007122|ICD9:358.0|ICD10CM:G70.0|OMIM:254200|Orphanet:589|UMLS:C0026896|MedDRA:10028417	mondo.json	myasthenia gravis|autoimmune myasthenia gravis|MG|acquired myasthenia	http://purl.obolibrary.org/obo/MONDO_0009688	Orphanet:589|http://purl.bioontology.org/ontology/ICD10CM/G70.0|NCIT:C60989|http://identifiers.org/mesh/D009157|DOID:437|https://omim.org/entry/254200|http://identifiers.org/snomedct/91637004|UMLS:C0026896	gard_rare|ordo_disease
MONDO:0020003	biolink:Disease	obsolete rare surgical cardiac disease		Orphanet:97965|UMLS:CN206936	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020003	UMLS:CN206936|Orphanet:97965	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0007025	biolink:Disease	chancre	The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection.	MESH:D002601|EFO:1001247	mondo.json		http://purl.obolibrary.org/obo/MONDO_0007025	http://identifiers.org/mesh/D002601	
HGNC:29326	biolink:NamedThing	SLC7A14			mondo.json		http://identifiers.org/hgnc/29326		
MONDO:0009687	biolink:Disease	myasthenia, congenital, refractory to acetylcholinesterase inhibitors		UMLS:C1850806|OMIM:254190|MESH:C564979	mondo.json	myasthenia, congenital, refractory to acetylcholinesterase inhibitors	http://purl.obolibrary.org/obo/MONDO_0009687	http://identifiers.org/mesh/C564979|UMLS:C1850806|https://omim.org/entry/254190	
MONDO:0020002	biolink:Disease	obsolete rare surgical thoracic disease		Orphanet:97962|UMLS:CN206935	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020002	Orphanet:97962|UMLS:CN206935	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0007026	biolink:Disease	obsolete non-alcoholic fatty liver			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007026		
MONDO:0009686	biolink:Disease	musk, inability to smell		MESH:C564980|OMIM:254150|UMLS:C1850807	mondo.json	musk, inability to smell	http://purl.obolibrary.org/obo/MONDO_0009686	http://identifiers.org/mesh/C564980|UMLS:C1850807|https://omim.org/entry/254150	
MONDO:0007023	biolink:Disease	Yersinia infectious disease	Infections with bacteria of the genus yersinia.	MESH:D015009|NCIT:C128337|SCTID:83436008|EFO:1001245	mondo.json	infections, Yersinia <bacteria>|infections, Yersinia|Yersinia infection|Yersinia <bacteria> infection|yersiniosis|infection, Yersinia	http://purl.obolibrary.org/obo/MONDO_0007023	http://identifiers.org/snomedct/83436008|http://identifiers.org/mesh/D015009|NCIT:C128337	
MONDO:0020001	biolink:Disease	respiratory or thoracic malformation		Orphanet:97957	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020001	Orphanet:97957	disease_grouping|ordo_group_of_disorders
MONDO:0009685	biolink:Disease	Miyoshi myopathy	A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.	OMIM:613319|DOID:0070198|GARD:0009676|Orphanet:45448|NCIT:C118846|MESH:C537480|OMIMPS:254130	mondo.json	MMD1|Miyoshi muscular dystrophy|muscular dystrophy, distal, late onset, autosomal recessive|Miyoshi muscular dystrophy 1|MM|Miyoshi distal myopathy|Miyoshi muscular dystrophy type 1	http://purl.obolibrary.org/obo/MONDO_0009685	DOID:0070198|Orphanet:45448|NCIT:C118846|https://omim.org/phenotypicSeries/PS254130|http://identifiers.org/mesh/C537480	gard_rare|ordo_disease|prototype_pattern
MONDO:0007024	biolink:Disease	Yersinia pseudotuberculosis infectious disease	Infections with bacteria of the species yersinia pseudotuberculosis.	SCTID:36753006|UMLS:C0043410|MESH:D015012|EFO:1001246	mondo.json	infection by Yersinia pseudotuberculosis|Pasteurella Pseudotuberculoses|pseudotuberculosis, Pasteurella|infections, Yersinia pseudotuberculosis|pseudotuberculosis|Pasteurella pseudotuberculosis|Pseudotuberculoses, Pasteurella|infection by Pasteurella pseudotuberculosis	http://purl.obolibrary.org/obo/MONDO_0007024	http://identifiers.org/snomedct/36753006|http://identifiers.org/mesh/D015012|UMLS:C0043410	
MONDO:0020000	biolink:Disease	obsolete rare respiratory disease	OBSOLETE. Rare respiratory system disease.	Orphanet:97955|UMLS:CN206934	mondo.json	rare respiratory system disease	http://purl.obolibrary.org/obo/MONDO_0020000	Orphanet:97955|UMLS:CN206934	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0007021	biolink:Disease	obsolete wheat allergic disease	OBSOLETE. Allergic reaction to wheat that is triggered by the immune system.	MESH:D021182|SCTID:420174000|UMLS:C0949570|ICD9:995.3|DOID:3660|EFO:1001243	mondo.json	wheat based food product allergic disease|wheat allergic reaction|allergic disease from wheat based food product|allergy of wheat based food product|allergy to wheat|wheat allergy	http://purl.obolibrary.org/obo/MONDO_0007021	DOID:3660|http://identifiers.org/mesh/D021182|http://identifiers.org/snomedct/420174000|UMLS:C0949570	
MONDO:0009684	biolink:Disease	muscular hypertonia, lethal		UMLS:C1850827|MESH:C564982|OMIM:254120	mondo.json	muscular hypertonia, lethal	http://purl.obolibrary.org/obo/MONDO_0009684	http://identifiers.org/mesh/C564982|UMLS:C1850827|https://omim.org/entry/254120	
MONDO:0009683	biolink:Disease	autosomal recessive limb-girdle muscular dystrophy type 2H	Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.	Orphanet:1878|UMLS:C0270968|ICD9:359.89|OMIM:254110|DOID:0110282|GARD:0003844|MESH:C535897|SCTID:43226001	mondo.json	muscular dystrophy, limb-girdle, autosomal recessive 8|muscular dystrophy limb-girdle type 2H|limb-girdle muscular dystrophy type 2H|muscular dystrophy Hutterite type|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32|sarcotubular myopathy|autosomal recessive limb-girdle muscular dystrophy type 2H|muscular dystrophy, limb-girdle, type 2H|LGMD2H|muscular dystrophy, Hutterite type|TRIM32 autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy due to TRIM32 deficiency|Sarcotubular myopathy	http://purl.obolibrary.org/obo/MONDO_0009683	http://identifiers.org/mesh/C535897|https://omim.org/entry/254110|http://identifiers.org/snomedct/43226001|UMLS:C0270968|Orphanet:1878|DOID:0110282	ordo_disease
MONDO:0007022	biolink:Disease	xanthogranulomatous pyelonephritis	Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli.	UMLS:C0034188|GARD:0012021|MESH:D011705|NCIT:C123038|MedDRA:10074389|SCTID:38898003|EFO:1001244|ICD9:582.89|DOID:11401	mondo.json	xanthogranulomatous pyelonephritis	http://purl.obolibrary.org/obo/MONDO_0007022	http://identifiers.org/mesh/D011705|http://identifiers.org/snomedct/38898003|UMLS:C0034188|DOID:11401|NCIT:C123038	
MONDO:0010682	biolink:Disease	myoclonic epilepsy, progressive, X-linked		OMIM:310370	mondo.json	myoclonic epilepsy, progressive	http://purl.obolibrary.org/obo/MONDO_0010682	https://omim.org/entry/310370	obsoletion_candidate
MONDO:0009682	biolink:Disease	muscular dystrophy, congenital, with rapid progression		UMLS:C1850840|OMIM:254100|MESH:C564983	mondo.json	muscular dystrophy, congenital, with rapid progression	http://purl.obolibrary.org/obo/MONDO_0009682	http://identifiers.org/mesh/C564983|UMLS:C1850840|https://omim.org/entry/254100	
HGNC:2197	biolink:NamedThing	COL1A1			mondo.json		http://identifiers.org/hgnc/2197		
MONDO:0007020	biolink:Disease	Wernicke encephalopathy	An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)	DOID:2384|EFO:1001241|Orphanet:97354|ICD10CM:E51.2|UMLS:C0043121|SCTID:21007002|MESH:D014899|ICD9:265.1	mondo.json	dementia due to thiamine deficiency|Wernicke's encephalopathy|Wernicke's disease	http://purl.obolibrary.org/obo/MONDO_0007020	DOID:2384|UMLS:C0043121|http://identifiers.org/snomedct/21007002|http://identifiers.org/mesh/D014899|Orphanet:97354|http://purl.bioontology.org/ontology/ICD10CM/E51.2	
MONDO:0009681	biolink:Disease	Ullrich congenital muscular dystrophy 1		OMIM:254090|UMLS:CN033863	mondo.json	Ullrich disease|Ullrich Scleroatonic muscular dystrophy|UCMD1|Ullrich congenital muscular dystrophy|Ullrich congenital muscular dystrophy 1|Ullrich congenital muscular dystrophy type 1|muscular dystrophy, Scleroatonic	http://purl.obolibrary.org/obo/MONDO_0009681	https://omim.org/entry/254090|UMLS:CN033863	
MONDO:0010681	biolink:Disease	myelolymphatic insufficiency		UMLS:C1839650|OMIM:310350	mondo.json	Myelolymphatic insufficiency|Pelger-like anomaly with leukopenia and susceptibility to infections	http://purl.obolibrary.org/obo/MONDO_0010681	UMLS:C1839650|https://omim.org/entry/310350	
MONDO:0010684	biolink:Disease	X-linked myopathy with excessive autophagy	X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.	UMLS:C1839615|UMLS:C2931230|OMIM:310440|Orphanet:25980|MESH:C536522|DOID:0050760|GARD:0003892|SCTID:719815005	mondo.json	MEAX|XMEA|myopathy, X-linked, with excessive autophagy, X-linked recessive|vacuolar myopathy|myopathy, X-linked, with excessive autophagy	http://purl.obolibrary.org/obo/MONDO_0010684	https://omim.org/entry/310440|UMLS:C1839615|DOID:0050760|http://identifiers.org/mesh/C536522|UMLS:C2931230|Orphanet:25980|http://identifiers.org/snomedct/719815005	gard_rare|ordo_disease
MONDO:0009680	biolink:Disease	congenital muscular dystrophy-infantile cataract-hypogonadism syndrome	Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.	Orphanet:1875|UMLS:C1850864|GARD:0000835|OMIM:254000|GARD:0003842|UMLS:C2931578	mondo.json	muscular dystrophy, congenital, with infantile cataract and hypogonadism|Bassoe syndrome|benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract|muscular dystrophy, congenital, infantile with cataract and hypogonadism|familial congenital muscular dystrophy with gonadal dysgenesis	http://purl.obolibrary.org/obo/MONDO_0009680	UMLS:C2931578|UMLS:C1850864|https://omim.org/entry/254000|Orphanet:1875	gard_rare|ordo_disease
HGNC:2195	biolink:NamedThing	COL18A1			mondo.json		http://identifiers.org/hgnc/2195		
MONDO:0010683	biolink:Disease	X-linked centronuclear myopathy	An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.	OMIM:310400|Orphanet:596|SCTID:46804001|NCIT:C118781|UMLS:C0410203|DOID:0111225|GARD:0011925	mondo.json	myotubular myopathy, X-linked, X-linked recessive|X-linked centronuclear myopathy|CNMX|MTM|myotubular myopathy, X-linked|myotubular myopathy 1|X-linked myotubular myopathy|centronuclear myopathy, X-linked|XLMTM|myopathy, centronuclear, X-linked|XLCNM	http://purl.obolibrary.org/obo/MONDO_0010683	https://omim.org/entry/310400|NCIT:C118781|UMLS:C0410203|DOID:0111225|Orphanet:596|http://identifiers.org/snomedct/46804001	ordo_disease
HGNC:2194	biolink:NamedThing	COL17A1			mondo.json		http://identifiers.org/hgnc/2194		
MONDO:0010686	biolink:Disease	N syndrome	N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity.	SCTID:723410002|DOID:0050769|GARD:0003902|MESH:C536108|Orphanet:2608|OMIM:310465|UMLS:C2936859	mondo.json	N syndrome|NSX|intellectual disability, malformations, chromosome breakage, and development of T-cell leukemia|mental retardation, malformations, chromosome breakage, and development of T-cell leukemia	http://purl.obolibrary.org/obo/MONDO_0010686	https://omim.org/entry/310465|Orphanet:2608|UMLS:C2936859|http://identifiers.org/mesh/C536108|DOID:0050769|http://identifiers.org/snomedct/723410002	ordo_malformation_syndrome|gard_rare
MONDO:0019019	biolink:Disease	osteogenesis imperfecta	Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.	MedDRA:10031243|GARD:0001017|OMIMPS:166200|Orphanet:666|DOID:12347|NCIT:C26837|ICD10CM:Q78.0|ICD9:756.51|MESH:D010013|SCTID:78314001|UMLS:C0029434	mondo.json	Porak and Durante disease|Vrolik disease|Lobstein's syndrome|Fragilitas ossium|Osteopsathyrosis|brittle bone disease|OI|Lobstein disease|Vrolik's disease|glass bone disease	http://purl.obolibrary.org/obo/MONDO_0019019	Orphanet:666|http://identifiers.org/mesh/D010013|DOID:12347|UMLS:C0029434|http://identifiers.org/snomedct/78314001|NCIT:C26837|https://omim.org/phenotypicSeries/PS166200|http://purl.bioontology.org/ontology/ICD10CM/Q78.0	gard_rare|ordo_disease
MONDO:0010685	biolink:Disease	myopia 1, X-linked		MESH:C564091|UMLS:C1839612|OMIM:310460	mondo.json	MYP1|myopia 1, X-linked|myopia-1, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0010685	https://omim.org/entry/310460|http://identifiers.org/mesh/C564091|UMLS:C1839612	
HGNC:17349	biolink:NamedThing	PRPF4			mondo.json		http://identifiers.org/hgnc/17349		
MONDO:0010688	biolink:Disease	hereditary sensory neuropathy X-linked	A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life.	UMLS:C1839602|OMIM:310470|MESH:C564090|DOID:0070159	mondo.json	neuropathy, hereditary sensory, X-linked	http://purl.obolibrary.org/obo/MONDO_0010688	DOID:0070159|https://omim.org/entry/310470|UMLS:C1839602|http://identifiers.org/mesh/C564090	
MONDO:0010687	biolink:Disease	nephrolithiasis, X-linked recessive, with renal failure		OMIM:310468|Orphanet:93622|SCTID:236713006|Orphanet:1652|MESH:C562901	mondo.json	nephrolithiasis, type i, X-linked recessive|urolithiasis, X-linked recessive, type 1|nephrolithiasis, X-linked recessive, with renal failure|XRN|nephrolithiasis, X-linked recessive, type 1|nephrolithiasis 1	http://purl.obolibrary.org/obo/MONDO_0010687	http://identifiers.org/mesh/C562901|http://identifiers.org/snomedct/236713006|https://omim.org/entry/310468	
HGNC:2190	biolink:NamedThing	COL13A1			mondo.json		http://identifiers.org/hgnc/2190		
MONDO:0019016	biolink:Disease	maternally-inherited progressive external ophthalmoplegia		Orphanet:663|ICD10CM:H49.4|UMLS:CN924917	mondo.json	maternally-inherited chronic progressive external ophthalmoplegia|maternally-inherited CPEO	http://purl.obolibrary.org/obo/MONDO_0019016	Orphanet:663|UMLS:CN924917	ordo_disease
MONDO:0019015	biolink:Disease	omphalocele	Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.	SCTID:396347007|MESH:D006554|MedDRA:10030308|HP:0001539|Orphanet:660|UMLS:C0795690|DOID:0060327|ICD9:756.72|NCIT:C98997|SCTID:18735004	mondo.json	omphalocoele|exomphalos|eventration|omphalocele|omphalocele (disease)|congenital omphalocele	http://purl.obolibrary.org/obo/MONDO_0019015	Orphanet:660|DOID:0060327|NCIT:C98997|http://identifiers.org/snomedct/18735004|UMLS:C0795690	ordo_morphological_anomaly
MONDO:0019018	biolink:Disease	Tako-tsubo cardiomyopathy	Takotsubo cardiomyopathy (TC) is a recently described acute cardiac syndrome that mimics acute myocardial infarction and is characterized by ischemic chest symptoms, an elevated ST segment on electrocardiogram, and elevated levels of cardiac disease markers.	UMLS:CN205479|NCIT:C85181|EFO:1002000|MESH:D054549|ICD9:429.83|UMLS:C1739395|GARD:0009400|SCTID:441541008|Orphanet:66529	mondo.json	ampulla cardiomyopathy|broken heart syndrome|transient left ventricular apical ballooning syndrome|left ventricular transient apical ballooning|Takotsubo cardiomyopathy|Tako tsubo syndrome|ballooning cardiomyopathy|stress cardiomyopathy|apical ballooning syndrome|Takotsubo syndrome|transient antero-apical dyskinesia|acute stress cardiomyopathy|stress-induced cardiomyopathy|ASC|broken-heart syndrome|Tako-Tsubo syndrome	http://purl.obolibrary.org/obo/MONDO_0019018	http://identifiers.org/mesh/D054549|http://identifiers.org/snomedct/441541008|NCIT:C85181|Orphanet:66529|UMLS:CN205479|UMLS:C1739395	ordo_disease
HGNC:17348	biolink:NamedThing	PRPF3			mondo.json		http://identifiers.org/hgnc/17348		
MONDO:0019017	biolink:Disease	short fifth metacarpals-insulin resistance syndrome	Short fifth metacarpals-insulin resistance syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant.	UMLS:CN205478|Orphanet:66518	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019017	Orphanet:66518|UMLS:CN205478	ordo_disease
MONDO:0019012	biolink:Disease	Carpenter syndrome	An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation.	SCTID:83728000|SCTID:403767009|UMLS:CN229565|NCIT:C98873|GARD:0006003|Orphanet:65759|UMLS:C1275078|OMIMPS:201000|DOID:0060234	mondo.json	acrocephalopolysyndactyly type 2|Carpenter syndrome|Carpenter 's syndrome|acrocephalosyndactyly, type II|type II Acrocephalopolysyndactyly|acrocephalopolysyndactyly type II|ACPS2	http://purl.obolibrary.org/obo/MONDO_0019012	DOID:0060234|UMLS:C1275078|NCIT:C98873|Orphanet:65759|UMLS:CN229565|https://omim.org/phenotypicSeries/PS201000|http://identifiers.org/snomedct/403767009	ordo_malformation_syndrome
HGNC:17342	biolink:NamedThing	BRWD3			mondo.json		http://identifiers.org/hgnc/17342		
MONDO:0019011	biolink:Disease	Charcot-Marie-Tooth disease type 1	Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.	Orphanet:65753|DOID:0050538|GARD:0012433|SCTID:398040009	mondo.json	autosomal dominant demyelinating Charcot-Marie-Tooth disease|Charcot-Marie-Tooth neuropathy type 1|hereditary motor and sensory neuropathy type 1|Charcot-Marie-Tooth type 1|CMT1	http://purl.obolibrary.org/obo/MONDO_0019011	Orphanet:65753|http://identifiers.org/snomedct/398040009|DOID:0050538	ordo_group_of_disorders|disease_grouping
HGNC:17341	biolink:NamedThing	TRNT1			mondo.json		http://identifiers.org/hgnc/17341		
MONDO:0010680	biolink:Disease	X-linked Emery-Dreifuss muscular dystrophy	X-linked form of Emery-Dreifuss muscular dystrophy.	NCIT:C168730|Orphanet:98863|DOID:0070246|UMLS:CN069573|GARD:0002102|UMLS:C2931858|OMIM:310300|UMLS:C0751337	mondo.json	Humeroperoneal neuromuscular disease, formerly|Ehlers-Danlos syndrome, classic-like, 1|X-linked Emery-Dreifuss muscular dystrophy|Emery-Dreifuss muscular dystrophy 1, X-linked|Humeroperoneal neuromuscular disease|Emery-Dreifuss muscular dystrophy, X-linked|scapuloperoneal syndrome, X-linked|Emerinopathy|EDMD1|scapuloperoneal syndrome, X-linked, formerly|humeroperoneal neuromuscular disease|muscular dystrophy, tardive, Dreifuss-Emery type, with contractures|muscular dystrophy, tardive Emery-Dreifuss type, with contractures|EMD1|EMERY-Dreifuss muscular dystrophy 1, X-linked	http://purl.obolibrary.org/obo/MONDO_0010680	UMLS:CN069573|UMLS:C0751337|Orphanet:98863|NCIT:C168730|DOID:0070246|https://omim.org/entry/310300	ordo_etiological_subtype
MONDO:0019014	biolink:Disease	obsolete mutilating palmoplantar keratoderma with periorificial keratotic plaques			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019014		
MONDO:0019013	biolink:Disease	non-histaminic angioedema	Angioedema is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.	UMLS:CN227560|ICD9:995.1|Orphanet:658|SCTID:41291007	mondo.json	angioneurotic edema|non histamine-induced angioedema|bradykinine-induced angioedema	http://purl.obolibrary.org/obo/MONDO_0019013	http://identifiers.org/snomedct/41291007|UMLS:CN227560|Orphanet:658	disease_grouping|ordo_group_of_disorders
HGNC:2198	biolink:NamedThing	COL1A2			mondo.json		http://identifiers.org/hgnc/2198		
MONDO:0022650	biolink:Disease	cardiomyopathy diabetes deafness		GARD:0001103	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022650		gard_rare
MONDO:0022651	biolink:Disease	obsolete cardiomyopathy dilated with conduction defect type 1			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022651		
MONDO:0022652	biolink:Disease	obsolete cardiomyopathy dilated with conduction defect type 2			mondo.json		http://purl.obolibrary.org/obo/MONDO_0022652		
MONDO:0022653	biolink:Disease	cardiomyopathy due to anthracyclines		GARD:0001107	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022653		gard_rare
MONDO:0022654	biolink:Disease	cardiomyopathy hypogonadism collagenoma syndrome		MESH:C535582	mondo.json	cardiomyopathy-hypogonadism-collagenoma syndrome	http://purl.obolibrary.org/obo/MONDO_0022654	http://identifiers.org/mesh/C535582	
MONDO:0022655	biolink:Disease	cardiomyopathy hypogonadism metabolic anomalies		GARD:0001109|UMLS:C2931289	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022655		gard_rare
HGNC:30304	biolink:NamedThing	RGS9BP			mondo.json		http://identifiers.org/hgnc/30304		
MONDO:0022656	biolink:Disease	cardiomyopathy spherocytosis		GARD:0001110	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022656		gard_rare
MONDO:0010668	biolink:Disease	skeletal dysplasia-intellectual disability syndrome	Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.	GARD:0003520|SCTID:722478008|OMIM:309620|Orphanet:1436|MESH:C564101|UMLS:C1839729	mondo.json	MRSD|intellectual disability, skeletal dysplasia, and abducens palsy|mental retardation, skeletal dysplasia, and abducens palsy|X-linked skeletal dysplasia-intellectual disability syndrome|Christian syndrome|mental retardation-skeletal dysplasia|intellectual disability skeletal dysplasia abducens palsy|mental retardation skeletal dysplasia abducens palsy	http://purl.obolibrary.org/obo/MONDO_0010668	https://omim.org/entry/309620|Orphanet:1436|http://identifiers.org/mesh/C564101|http://identifiers.org/snomedct/722478008|UMLS:C1839729	ordo_malformation_syndrome|gard_rare
MONDO:0007038	biolink:Disease	Achoo syndrome		EFO:0007887|MESH:C535300|UMLS:C1863416|OMIM:100820|GARD:0010036	mondo.json	Peroutka sneeze|Achoo syndrome|autosomal dominant compelling Helioophthalmic outburst syndrome|photic sneeze reflex|sneezing from Light exposure|autosomal dominant compelling helio ophthalmic outburst syndrome	http://purl.obolibrary.org/obo/MONDO_0007038	http://identifiers.org/mesh/C535300|UMLS:C1863416|https://omim.org/entry/100820	
MONDO:0007039	biolink:Disease	neurofibromatosis type 2	A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.	MESH:D009464|GARD:0007193|NCIT:C3274|Orphanet:637|SCTID:92503002|MedDRA:10000523|DOID:0111252|UMLS:C0027832|ICD10CM:Q85.02|MedDRA:10029271|ICD9:237.72|OMIM:101000	mondo.json	neurofibromatosis central type|acoustic Schwannomas, bilateral|neurofibromatosis, central type|acoustic schwannomas bilateral|neurofibromatosis type 2|NF2|neurofibromatosis 2|central neurofibromatosis|neurofibromatosis type II|neurofibromatosis, type II|acoustic neurinoma, bilateral|neurofibromatosis, type 2|acoustic neurinoma bilateral|bilateral acoustic neurofibromatosis|acoustic neurofibromatosis	http://purl.obolibrary.org/obo/MONDO_0007039	DOID:0111252|Orphanet:637|http://identifiers.org/snomedct/92503002|https://omim.org/entry/101000|NCIT:C3274|http://purl.bioontology.org/ontology/ICD10CM/Q85.02|UMLS:C0027832	clingen|ordo_disease
MONDO:0010667	biolink:Disease	Prieto syndrome	This syndrome is characterised by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth.	DOID:0060805|OMIM:309610|MESH:C535274|GARD:0004482|SCTID:719140001|Orphanet:2958	mondo.json	X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome|Prieto-Badia-Mulas syndrome|intellectual disability, X-linked, syndromic 2|mental retardation, X-linked, syndromic 2|Prieto X-linked intellectual disability syndrome|PRS|Prieto syndrome, X-linked recessive|intellectual disability, X-linked, with Dysmorphism and cerebral atrophy|MRXS2|mental retardation, X-linked, with Dysmorphism and cerebral atrophy|Prieto X-linked mental retardation syndrome	http://purl.obolibrary.org/obo/MONDO_0010667	https://omim.org/entry/309610|DOID:0060805|Orphanet:2958|http://identifiers.org/mesh/C535274|http://identifiers.org/snomedct/719140001	ordo_malformation_syndrome
MONDO:0009699	biolink:Disease	action myoclonus-renal failure syndrome	Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.	SCTID:764453009|OMIM:254900|Orphanet:163696	mondo.json	progressive myoclonic epilepsy type 4|EPM4|epilepsy, progressive myoclonic 4, with or without renal failure|epilepsy, progressive myoclonic, 4, with or without renal failure|AMRF|action myoclonus-renal failure syndrome|myoclonus-nephropathy syndrome	http://purl.obolibrary.org/obo/MONDO_0009699	https://omim.org/entry/254900|Orphanet:163696|http://identifiers.org/snomedct/764453009	ordo_disease
MONDO:0007036	biolink:Disease	Achard syndrome	A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet.	DOID:6686|UMLS:C1332135|MESH:C536012|OMIM:100700|GARD:0008176|NCIT:C35809	mondo.json	Achard syndrome|arachnodactyly, receding lower jaw and joint laxity of hands/feet	http://purl.obolibrary.org/obo/MONDO_0007036	https://omim.org/entry/100700|UMLS:C1332135|DOID:6686|http://identifiers.org/mesh/C536012|NCIT:C35809	gard_rare
MONDO:0009698	biolink:Disease	Unverricht-Lundborg syndrome	Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.	UMLS:C0751785|SCTID:230423006|MESH:D020194|DOID:3535|Orphanet:308|MedDRA:10054895|GARD:0003876|OMIM:254800	mondo.json	PME type 1|progressive myoclonic epilepsy|Unverricht - Lundborg disease|progressive myoclonus epilepsy Baltic myoclonic epilepsy|Uld|progressive myoclonus epilepsy type 1|EPM1|epilepsy, progressive myoclonus 1|myoclonic epilepsy of Unverricht and Lundborg|Baltic myoclonic epilepsy|Unverricht-Lundborg disease|progressive myoclonic epilepsy type 1|epilepsy, progressive myoclonic type 1|Unverricht-Lundborg syndrome|Unverricht's disease|epilepsy, progressive myoclonic, 1A|epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)|myoclonus progressive epilepsy of Unverricht and Lundborg|epilepsy, progressive myoclonic, 1|ULD	http://purl.obolibrary.org/obo/MONDO_0009698	UMLS:C0751785|DOID:3535|http://identifiers.org/snomedct/230423006|http://identifiers.org/mesh/D020194|Orphanet:308|https://omim.org/entry/254800	ordo_malformation_syndrome
MONDO:0007037	biolink:Disease	achondroplasia	Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.	UMLS:C0001080|MedDRA:10000452|MESH:D000130|DOID:4480|OMIM:100800|ICD10CM:Q77.4|Orphanet:15|GARD:0008173|SCTID:86268005|NCIT:C34345	mondo.json	ach|achondroplasia|achondroplastic physique|osteosclerosis congenita|chondrodystrophia|achondroplastic dwarfism	http://purl.obolibrary.org/obo/MONDO_0007037	http://identifiers.org/snomedct/86268005|Orphanet:15|http://purl.bioontology.org/ontology/ICD10CM/Q77.4|https://omim.org/entry/100800|UMLS:C0001080|http://identifiers.org/mesh/D000130|NCIT:C34345|DOID:4480	gard_rare|clingen|ordo_disease
MONDO:0010669	biolink:Disease	syndactyly type 8	Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers.	UMLS:C1839728|GARD:0003559|OMIM:309630|SCTID:715442006|Orphanet:2498|MESH:C564100	mondo.json	MF4|metacarpal 4-5 fusion, X-linked recessive|fusion of metacarpals 4 and 5|metacarpal 4-5 fusion|FGF16 non-syndromic syndactyly|non-syndromic syndactyly caused by mutation in FGF16|metacarpals 4 and 5 fusion	http://purl.obolibrary.org/obo/MONDO_0010669	https://omim.org/entry/309630|http://identifiers.org/snomedct/715442006|Orphanet:2498|UMLS:C1839728|http://identifiers.org/mesh/C564100	gard_rare|ordo_morphological_anomaly
MONDO:0009697	biolink:Disease	Lafora disease	Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.	MedDRA:10054030|GARD:0008214|NCIT:C84804|Orphanet:501|OMIM:254780|SCTID:230425004|UMLS:C0751783|MESH:D020192|DOID:3534	mondo.json	EPM2|Lafora progressive myoclonic epilepsy|progressive myoclonic epilepsy type 2|myoclonic epilepsy of Lafora|Melf|Lafora body disorder|epilepsy, progressive myoclonic, 2B|Lafora body disease|epilepsy, progressive myoclonic, 2A|Epm2|Lafora disease|PME type 2|Lafora's disease|epilepsy, progressive myoclonic 2A (Lafora)|progressive myoclonus epilepsy type 2|epilepsy, progressive myoclonic 2B (Lafora)|epilepsy progressive myoclonic 2	http://purl.obolibrary.org/obo/MONDO_0009697	UMLS:C0751783|DOID:3534|http://identifiers.org/mesh/D020192|NCIT:C84804|Orphanet:501|https://omim.org/entry/254780|http://identifiers.org/snomedct/230425004	ordo_disease|gard_rare
MONDO:0007034	biolink:Disease	Adams-Oliver syndrome	Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.	SCTID:34748004|GARD:0005739|ICD9:759.89|UMLS:C0265268|DOID:0060227|OMIMPS:100300|Orphanet:974|MESH:C538225	mondo.json	congenital scalp defects with distal limb anomalies|Adams Oliver syndrome|limb, scalp and skull defects|AOS|limb scalp and skull defects|congenital scalp defects with distal limb reduction anomalies	http://purl.obolibrary.org/obo/MONDO_0007034	Orphanet:974|DOID:0060227|https://omim.org/phenotypicSeries/PS100300|http://identifiers.org/mesh/C538225|UMLS:C0265268|http://identifiers.org/snomedct/34748004	ordo_malformation_syndrome|gard_rare
HGNC:29331	biolink:NamedThing	EPG5			mondo.json		http://identifiers.org/hgnc/29331		
MONDO:0007035	biolink:Disease	acanthosis nigricans	A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy.	SCTID:402599005|NCIT:C26687|Wikipedia:Acanthosis_nigricans|DOID:3138|Orphanet:924|MESH:D000052|HP:0000956|ICD10CM:L83|UMLS:C0000889|EFO:1000660	mondo.json	acanthosis nigricans|keratosis nigricans|an - acanthosis nigricans|acanthosis nigricans (disease)	http://purl.obolibrary.org/obo/MONDO_0007035	Orphanet:924|http://purl.bioontology.org/ontology/ICD10CM/L83|NCIT:C26687|http://identifiers.org/snomedct/402599005|http://identifiers.org/mesh/D000052|UMLS:C0000889|DOID:3138	
MONDO:0009696	biolink:Disease	juvenile myoclonic epilepsy	Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).	OMIM:607628|OMIM:608816|OMIM:611136|UMLS:C0270853|ICD9:345.10|DOID:4890|Orphanet:307|EFO:0006572|MESH:D020190|NCIT:C84796|OMIM:611364|GARD:0006808|OMIM:606904|OMIM:604827|OMIM:607682|OMIMPS:254770|OMIM:613060|SCTID:6204001|OMIM:254770|MedDRA:10071082|OMIM:614280	mondo.json	myoclonic epilepsy, juvenile, 1|myoclonic epilepsy, juvenile|Janz syndrome|EJM|juvenile myoclonus epilepsy|JME|petit mal, impulsive|epilepsy, myoclonic juvenile|myoclonic epilepsy, juvenile, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0009696	http://identifiers.org/mesh/D020190|NCIT:C84796|http://identifiers.org/snomedct/6204001|UMLS:C0270853|Orphanet:307|https://omim.org/phenotypicSeries/PS254770|https://omim.org/entry/254770|DOID:4890	gard_rare|predisposition|ordo_disease
MONDO:0007032	biolink:Disease	prune belly syndrome	Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.	UMLS:C0265363|GARD:0007479|SCTID:5187006|OMIM:100100|MESH:C536477|DOID:0060889|MedDRA:10051025|NCIT:C85033|UMLS:C0033770|Orphanet:2970|MESH:D011535|ICD9:756.71	mondo.json	abdominal muscle deficiency syndrome|Obrisnksy syndrome|PBS|eagle-Barrett syndrome|abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism|prune belly syndrome|Obrinsky syndrome|triad syndrome|syndrome of agenesis of abdominal muscles|eagle-Barret syndrome	http://purl.obolibrary.org/obo/MONDO_0007032	NCIT:C85033|http://identifiers.org/snomedct/5187006|DOID:0060889|https://omim.org/entry/100100|UMLS:C0033770|Orphanet:2970|http://identifiers.org/mesh/D011535	ordo_malformation_syndrome
MONDO:0009695	biolink:Disease	myeloproliferative disease, autosomal recessive		UMLS:C1850779|OMIM:254700|MESH:C564977	mondo.json	myeloproliferative disease, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009695	http://identifiers.org/mesh/C564977|UMLS:C1850779|https://omim.org/entry/254700	
MONDO:0007033	biolink:Disease	abducens nerve palsy	Paralysis of the abducens nerve.	GARD:0009482|OMIM:100200|ICD9:378.54|SCTID:398963001|DOID:10865|NCIT:C27592	mondo.json	sixth or abducens nerve palsy|6th nerve palsy|disorder of abducent nerve|abducens nerve cranial nerve palsy|abducens nerve weakness|sixth nerve palsy|abducens nerve disease|cranial nerve VI palsy|abducent nerve paralysis|lateral rectus muscle denervation paresis|sixth cranial nerve disorder|cranial mononeuropathy VI|VI nerve palsy|lateral rectus muscle innervation disorder|VIth nerve disorder|sixth nerve paralysis|VIth nerve paralysis|sixth cranial nerve palsy|cranial nerve palsy of abducens nerve|abducens palsy	http://purl.obolibrary.org/obo/MONDO_0007033	NCIT:C27592|http://identifiers.org/snomedct/398963001|https://omim.org/entry/100200|DOID:10865	
MONDO:0009694	biolink:Disease	myeloperoxidase deficiency		OMIM:254600|SCTID:234433009|ICD9:288.8|MESH:C562864|GARD:0003868|Orphanet:2587|UMLS:C0398595	mondo.json	myeloperoxidase deficiency|MPOD|MPO deficiency	http://purl.obolibrary.org/obo/MONDO_0009694	http://identifiers.org/mesh/C562864|Orphanet:2587|http://identifiers.org/snomedct/234433009|UMLS:C0398595|https://omim.org/entry/254600	ordo_disease|gard_rare
GO:0042571	biolink:NamedThing	immunoglobulin complex, circulating	An immunoglobulin complex that is secreted into extracellular space and found in mucosal areas or other tissues or circulating in the blood or lymph. In its canonical form, a circulating immunoglobulin complex is composed of two identical heavy chains and two identical light chains, held together by disulfide bonds. Some forms of are polymers of the basic structure and contain additional components such as J-chain and the secretory component.		mondo.json	antibody	http://purl.obolibrary.org/obo/GO_0042571		
MONDO:0010671	biolink:Disease	microphthalmia, syndromic 1		GARD:0005066|ICD9:759.89|MESH:C564457|Orphanet:85275|SCTID:438504004|OMIM:309800|SCTID:717222003|MESH:C537464	mondo.json	ANOP1, formerly|Lenz dysplasia|MCOPS4, formerly|microphthalmia, syndromic 4, formerly|microphthalmia with ankyloblepharon and mental retardation|microphthalmia syndromic 4|MCOPS1|MAA, formerly|microphthalmia with ankyloblepharon and intellectual disability|microphthalmia, syndromic type 1|syndromic microphthalmia type 4|Lenz microphthalmia syndrome|microphthalmia, syndromic 1|MCOPS4	http://purl.obolibrary.org/obo/MONDO_0010671	http://identifiers.org/snomedct/717222003|http://identifiers.org/snomedct/438504004|http://identifiers.org/mesh/C537464|Orphanet:85275|https://omim.org/entry/309800	gard_rare|ordo_malformation_syndrome
MONDO:0007030	biolink:Disease	autosomal dominant Aarskog syndrome		SCTID:14921002|OMIM:100050|DOID:6683|Orphanet:915|MESH:C535331	mondo.json	Aarskog syndrome, autosomal dominant|Aarskog-Scott syndrome|faciogenital dysplasia|Aarskog syndrome	http://purl.obolibrary.org/obo/MONDO_0007030	https://omim.org/entry/100050|DOID:6683	
MONDO:0009693	biolink:Disease	plasma cell myeloma	A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)	UMLS:C0268381|NCIT:C3242|OMIM:254500|EFO:0001378|DOID:9538|ONCOTREE:PCM|ICDO:9732/3|ICD10CM:C90.0|MedDRA:10028228|Orphanet:29073|UMLS:C0026764|Orphanet:314701|GARD:0007108|MESH:D009101|ICD9:203.0|Orphanet:85443	mondo.json	myeloma, plasma cell, malignant|myeloma, multiple|plasma cell myeloma|medullary plasmacytoma|myeloid neoplasm of plasma cell|amyloidosis, systemic|Al amyloidosis|plasma cell myeloid neoplasm|myelomatosis|multiple myeloma, resistance to, Somatic mutation|Kahler's disease|multiple myeloma, susceptibility to, Somatic mutation|Kahler disease|multiple myeloma/plasma cell myeloma|myeloma - multiple|multiple myeloma|myeloma	http://purl.obolibrary.org/obo/MONDO_0009693	DOID:9538|NCIT:C3242|Orphanet:29073|http://identifiers.org/mesh/D009101|UMLS:C0026764|https://omim.org/entry/254500|http://purl.bioontology.org/ontology/ICD10CM/C90.0	ordo_disease
MONDO:0009692	biolink:Disease	primary myelofibrosis	Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension.	Orphanet:824|ICDO:9961/3|UMLS:C2355576|MESH:D055728|OMIM:254450|ONCOTREE:PMF|GARD:0008618|UMLS:C0001815|UMLS:C0948968|ICD9:238.76|ICD9:289.83|DOID:4971|EFO:0002430|NCIT:C2862	mondo.json	myelosclerosis|myeloid metaplasia|Agnogenic myeloid metaplasia|idiopathic myelofibrosis|AMM|myelofibrosis with myeloid metaplasia|myelofibrosis|CIMF|megakaryocytic myelosclerosis|bone marrow fibrosis|myelosclerosis with myeloid metaplasia|idiopathic bone marrow fibrosis|myelofibrosis with myeloid metaplasia, somatic|chronic idiopathic myelofibrosis|osteomyelofibrosis|primary myelofibrosis|aleukemic myelosis|myelofibrosis, somatic	http://purl.obolibrary.org/obo/MONDO_0009692	NCIT:C2862|UMLS:C0948968|http://identifiers.org/mesh/D055728|https://omim.org/entry/254450|UMLS:C0001815|Orphanet:824|DOID:4971|UMLS:C2355576	ordo_disease
MONDO:0007031	biolink:Disease	familial abdominal aortic aneurysm	An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome.	Orphanet:86|SCTID:715364001|OMIMPS:100070|UMLS:C4275172|UMLS:CN206207|GARD:0009181	mondo.json	hereditary abdominal aortic aneurysm|aortic aneurysm, familial abdominal	http://purl.obolibrary.org/obo/MONDO_0007031	https://omim.org/phenotypicSeries/PS100070|Orphanet:86|UMLS:C4275172|http://identifiers.org/snomedct/715364001|UMLS:CN206207	ordo_disease|prototype_pattern
MONDO:0010670	biolink:Disease	X-linked intellectual disability-spastic quadriparesis syndrome		Orphanet:163982|UMLS:C1839727|MESH:C564099|OMIM:309640	mondo.json	mental retardation with spastic paraplegia|intellectual disability with spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0010670	UMLS:C1839727|http://identifiers.org/mesh/C564099|https://omim.org/entry/309640	ordo_disease
MONDO:0009691	biolink:Disease	mycosis fungoides	Classical mycosis fungoides is the most common type of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors.	EFO:1001051|ONCOTREE:MYCF|SCTID:118618005|ICD9:202.1|NCIT:C3246|DOID:8691|UMLS:C0026948|Orphanet:2584|ICDO:9700/3|MESH:D009182|GARD:0003863|ICD10CM:C84.0|MedDRA:10028483|OMIM:254400	mondo.json	mycosis fungoides of unspecified site|cutaneous T-cell lymphoma/mycosis fungoides|Alibert-Bazin syndrome|mycosis fungoides NOS (morphologic abnormality)|classic mycosis fungoides|mycosis fungoides, unspecified site, extranodal and solid organ sites|CTCL/ mycosis fungoides|mycosis fungoides (morphologic abnormality)|MF|mycosis fungoides lymphoma|mycosis fungoides, Alibert-Bazin type|mycosis fungoides|granuloma fungoides	http://purl.obolibrary.org/obo/MONDO_0009691	NCIT:C3246|DOID:8691|http://identifiers.org/snomedct/118618005|http://identifiers.org/mesh/D009182|Orphanet:2584|UMLS:C0026948|https://omim.org/entry/254400|http://purl.bioontology.org/ontology/ICD10CM/C84.0	ordo_disease|gard_rare
MONDO:0010673	biolink:Disease	modifier, X-linked, for Neurofunctional defects		UMLS:C1839708|MESH:C564098|OMIM:309840	mondo.json	Tourette syndrome, modifier of|modifier, X-linked, for Neurofunctional defects	http://purl.obolibrary.org/obo/MONDO_0010673	UMLS:C1839708|http://identifiers.org/mesh/C564098|https://omim.org/entry/309840	
MONDO:0009690	biolink:Disease	congenital myasthenic syndrome 10	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene.	SCTID:230687001|ICD9:358.00|OMIM:254300|DOID:0110668	mondo.json	familial limb-girdle myasthenia|congenital myasthenic syndrome type 10|CMS Ib|myasthenic syndrome, congenital, type 10|myasthenia, limb-girdle, familial, formerly|myasthenia, limb-girdle, familial|Cms Ib, formerly|myasthenic syndrome, congenital, 10|DOK7 congenital myasthenic syndrome|congenital myasthenic syndrome type IB, formerly|CMS10|CMS1B|Cms Ib|myasthenic myopathy, formerly|LGM|congenital myasthenic syndrome type IB|congenital myasthenic syndrome caused by mutation in DOK7|congenital myasthenic syndrome 10|myasthenic myopathy	http://purl.obolibrary.org/obo/MONDO_0009690	http://identifiers.org/snomedct/230687001|https://omim.org/entry/254300|DOID:0110668	
MONDO:0010672	biolink:Disease	linear skin defects with multiple congenital anomalies	A genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms.	GARD:0003659|SCTID:721879006|OMIMPS:309801|MESH:C537466|Orphanet:2556	mondo.json	MLS syndrome|microphthalmia dermal aplasia and sclerocornea syndrome|microphthalmia-dermal aplasia-sclerocornea syndrome|Micropthalmia syndromic 7|microphthalmia with linear skin defects syndrome|MIDAS syndrome|linear skin defects with multiple congenital anomalies|syndromic microphthalmia type 7|MCOPS7|linear skin defects with multiple congenital anomalies type 1|LSDMCA1|linear skin defects with multiple congenital anomalies 1	http://purl.obolibrary.org/obo/MONDO_0010672	Orphanet:2556|http://identifiers.org/mesh/C537466|https://omim.org/phenotypicSeries/PS309801|http://identifiers.org/snomedct/721879006	gard_rare|ordo_malformation_syndrome
MONDO:0019009	biolink:Disease	isolated focal cortical dysplasia	Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated.	Orphanet:65683|SCTID:766710005	mondo.json	epilepsy due to FCD	http://purl.obolibrary.org/obo/MONDO_0019009	http://identifiers.org/snomedct/766710005|Orphanet:65683	ordo_disease
GO:0042578	biolink:NamedThing	phosphoric ester hydrolase activity	Catalysis of the reaction: RPO-R' + H2O = RPOOH + R'H. This reaction is the hydrolysis of any phosphoric ester bond, any ester formed from orthophosphoric acid, O=P(OH)3.		mondo.json		http://purl.obolibrary.org/obo/GO_0042578		
MONDO:0010675	biolink:Disease	muscular dystrophy, cardiac type		MESH:C563247|OMIM:309930|UMLS:C1442927	mondo.json	muscular dystrophy, cardiac type	http://purl.obolibrary.org/obo/MONDO_0010675	UMLS:C1442927|http://identifiers.org/mesh/C563247|https://omim.org/entry/309930	
MONDO:0010674	biolink:Disease	mucopolysaccharidosis type 2	A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement.	Orphanet:79388|MedDRA:10056889|NCIT:C61260|UMLS:C0026705|MESH:D016532|ICD10CM:E76.1|OMIM:309900|Orphanet:580|SCTID:70737009|DOID:12799|GARD:0006675	mondo.json	attenuated MPS (subtype; formerly known as mild MPS II)|mucopolysaccharidosis type 2|MPS with skin involvement|mucopolysaccharidosis, type II|mucopolysaccharidosis, MPS-II|Hunter's syndrome|MPS2|Hunter syndrome|MPSII|MPS II|mucopolysaccharidosis type II|mucopolysaccharidosis, type 2|I2S deficiency|SIDS deficiency|MPS 2|mucopolysaccharidosis II, X-linked recessive|IDS deficiency|mucopolysaccharidosis with skin involvement|severe MPS II|MPS II - Hunter syndrome|deficiency of iduronate-2-sulphatase|mucopolysaccharidosis II|iduronate 2-sulfatase deficiency|sulfoiduronate sulfatase deficiency	http://purl.obolibrary.org/obo/MONDO_0010674	http://identifiers.org/mesh/D016532|http://identifiers.org/snomedct/70737009|UMLS:C0026705|http://purl.bioontology.org/ontology/ICD10CM/E76.1|Orphanet:580|NCIT:C61260|Orphanet:79388|DOID:12799|https://omim.org/entry/309900	ordo_disease
MONDO:0019008	biolink:Disease	benign recurrent intrahepatic cholestasis	Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC).	UMLS:C0149841|DOID:0070230|GARD:0012185|SCTID:31155007|Orphanet:65682|OMIMPS:243300	mondo.json	Bric|cholestasis, benign recurrent intrahepatic|Summerskill-Walshe-Tygstrup syndrome	http://purl.obolibrary.org/obo/MONDO_0019008	http://identifiers.org/snomedct/31155007|Orphanet:65682|DOID:0070230|UMLS:C0149841|https://omim.org/phenotypicSeries/PS243300	ordo_disease|gard_rare
MONDO:0010677	biolink:Disease	muscular dystrophy, Mabry type		MESH:C564096|OMIM:310000|UMLS:C1839670	mondo.json	muscular dystrophy, Mabry type	http://purl.obolibrary.org/obo/MONDO_0010677	https://omim.org/entry/310000|http://identifiers.org/mesh/C564096|UMLS:C1839670	
MONDO:0010676	biolink:Disease	muscular dystrophy, Hemizygous lethal type		UMLS:C1839671|MESH:C564097|OMIM:309950	mondo.json	muscular dystrophy, Hemizygous lethal type	http://purl.obolibrary.org/obo/MONDO_0010676	https://omim.org/entry/309950|UMLS:C1839671|http://identifiers.org/mesh/C564097	
GO:0042579	biolink:NamedThing	microbody	Cytoplasmic organelles, spherical or oval in shape, that are bounded by a single membrane and contain oxidative enzymes, especially those utilizing hydrogen peroxide (H2O2).		mondo.json		http://purl.obolibrary.org/obo/GO_0042579		
MONDO:0022646	biolink:Disease	cardiofacial syndrome short limbs		GARD:0001097	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022646		gard_rare
MONDO:0019005	biolink:Disease	nephronophthisis	Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure.	OMIMPS:256100|HP:0000090|DOID:12712|Orphanet:655|UMLS:C0687120|NCIT:C123200|GARD:0000206|UMLS:C2939174	mondo.json	medullary cystic disease|medullary cystic kidney|nephronophthisis|nephronophthisis (disease)	http://purl.obolibrary.org/obo/MONDO_0019005	Orphanet:655|DOID:12712|UMLS:C2939174|NCIT:C123200|https://omim.org/phenotypicSeries/PS256100|UMLS:C0687120	ordo_disease|gard_rare
MONDO:0019004	biolink:Disease	kidney Wilms tumor	An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver.	ICDO:8960/3|DOID:2154|Orphanet:654|MedDRA:10029145|MESH:D009396|DOID:5176|ONCOTREE:WT|SCTID:302849000|GARD:0007892|UMLS:C0027708|NCIT:C40407	mondo.json	renal Wilms tumor|nephroblastoma, malignant|renal embryonic tumor|Wilms tumor of the kidney|childhood renal Wilms' cancer|renal Wilms' tumor|nonanaplastic renal Wilm's tumor|kidney Wilms tumor|Wilms' tumor|embryonal nephroma|Wilms' tumor of the kidney|Wilms tumor|adult nephroblastoma|childhood renal Wilms tumor|nephroblastoma	http://purl.obolibrary.org/obo/MONDO_0019004	Orphanet:654|DOID:2154|http://identifiers.org/snomedct/302849000|NCIT:C40407|UMLS:C0027708|DOID:5176|http://identifiers.org/mesh/D009396	ordo_disease
MONDO:0022647	biolink:Disease	cardiomelic syndrome stratton Koehler type		GARD:0001099	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022647		gard_rare
MONDO:0022648	biolink:Disease	cardiomyopathy and deafness due to tRNA lysine gene mutation	A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms.	GTR:AN0103739|GTR:AN0103738|HGNC:7489|UMLS:CN036924|GARD:0001108	mondo.json	cardiomyopathy and deafness due to MTTK gene mutation|cardiomyopathy and deafness due to tRNA lysine gene mutation	http://purl.obolibrary.org/obo/MONDO_0022648	UMLS:CN036924	gard_rare
MONDO:0019007	biolink:Disease	vaginal atresia		HP:0000148|Orphanet:65681|MedDRA:10046879	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019007	Orphanet:65681	ordo_morphological_anomaly
MONDO:0019006	biolink:Disease	familial idiopathic steroid-resistant nephrotic syndrome	Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset.	UMLS:C4273714|OMIM:616002|OMIM:614131|OMIM:616220|OMIM:616032|Orphanet:656|OMIM:256370|UMLS:CN536255|OMIM:603965|OMIM:613237|SCTID:718141008|UMLS:C1868672|OMIM:607832	mondo.json	familial idiopathic nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0019006	UMLS:C4273714|http://identifiers.org/snomedct/718141008|Orphanet:656|UMLS:C1868672|UMLS:CN536255	ordo_disease
HGNC:17358	biolink:NamedThing	TPK1			mondo.json		http://identifiers.org/hgnc/17358		
MONDO:0019001	biolink:Disease	obsolete biotin-responsive basal ganglia disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019001		
MONDO:0019000	biolink:Disease	perineural cyst	Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy.	SCTID:81634008|EFO:1001858|GARD:0009258|Orphanet:65250|MESH:D052958	mondo.json	sacral perineural cysts|Tarlov cysts|perineural cysts|sacral neural cysts|sacral Tarlov cysts|Tarlov cyst	http://purl.obolibrary.org/obo/MONDO_0019000	Orphanet:65250|http://identifiers.org/mesh/D052958|http://identifiers.org/snomedct/81634008	ordo_disease
MONDO:0019003	biolink:Disease	multiple endocrine neoplasia type 2	Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia, a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC).	MedDRA:10028191|ICD9:194.8|GARD:0003830|Orphanet:653|UMLS:CN073359|NCIT:C123329|SCTID:61808009|UMLS:C4048306|ICD9:258.02	mondo.json	MEN2|multiple endocrine neoplasia type 2	http://purl.obolibrary.org/obo/MONDO_0019003	Orphanet:653|UMLS:C4048306|NCIT:C123329|http://identifiers.org/snomedct/61808009|UMLS:CN073359	ordo_disease|gard_rare
MONDO:0019002	biolink:Disease	Lhermitte-Duclos disease	Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.	GARD:0006901|ICDO:9493/0|OMIM:158350|Orphanet:65285|NCIT:C8419|UMLS:C0391826	mondo.json	dysplastic cerebellar gangliocytoma|dysplastic gangliocytoma of cerebellum|LDD|dysplastic gangliocytoma of the cerebellum	http://purl.obolibrary.org/obo/MONDO_0019002	NCIT:C8419|Orphanet:65285|UMLS:C0391826	ordo_disease
MONDO:0022642	biolink:Disease	childhood carcinoid tumor	A rare carcinoid tumor that occurs during childhood.	GARD:0009315|UMLS:C3899673|NCIT:C118810	mondo.json	carcinoid tumor childhood|carcinoid tumor (disease) of childhood|childhood carcinoid tumor|childhood carcinoid tumor (disease)|pediatric carcinoid tumor (disease)	http://purl.obolibrary.org/obo/MONDO_0022642	NCIT:C118810|UMLS:C3899673	gard_rare
MONDO:0007009	biolink:Disease	ureterolithiasis	The presence of a calculus in the ureter of the kidney; this is most often composed of mineral salts and proteins.	SCTID:31054009|ICD9:592.1|DOID:14146|MESH:D053039|UMLS:C0041952|NCIT:C114696|EFO:1001228	mondo.json	calculus of ureter|ureteric stone|ureteric calculus	http://purl.obolibrary.org/obo/MONDO_0007009	http://identifiers.org/snomedct/31054009|DOID:14146|http://identifiers.org/mesh/D053039|UMLS:C0041952|NCIT:C114696	
MONDO:0022643	biolink:Disease	carcinoma of the vocal tract	A carcinoma that involves the laryngeal vocal fold.	GARD:0005996	mondo.json	carcinoma of laryngeal vocal fold|laryngeal vocal fold carcinoma	http://purl.obolibrary.org/obo/MONDO_0022643		gard_rare
MONDO:0007007	biolink:Disease	Ureaplasma urethritis	Infections with bacteria of the genus ureaplasma.	EFO:1001225|MESH:D016869|SCTID:51105006	mondo.json	Ureaplasma disease or disorder|infection, Ureaplasma|infections, Ureaplasma|Ureaplasma infection|Ureaplasma infectious disease|Ureaplasma caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0007007	http://identifiers.org/snomedct/51105006|http://identifiers.org/mesh/D016869	
MONDO:0022644	biolink:Disease	cardiac hydatid cysts with intracavitary expansion		GARD:0000199	mondo.json	Cardiac hydatidosis	http://purl.obolibrary.org/obo/MONDO_0022644		gard_rare
MONDO:0009669	biolink:Disease	spinal muscular atrophy, type 1	A severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.	SCTID:64383006|OMIM:253300|ICD9:335.0|Orphanet:83330|DOID:0060160|NCIT:C98670|ICD9:335.11|DOID:13137|GARD:0007883	mondo.json	SMA type 1|SMA-I|survival motor neuron spinal muscular atrophy|SMA, infantile acute form|Werdnig-Hoffman disease|SMA1|Werdnig Hoffmann disease|severe infantile spinal muscular atrophy|infantile muscular atrophy|Werdnig-Hoffmann disease|proximal spinal muscular atrophy, type 1|spinal muscular atrophy-1|SMA type I|HMN (hereditary motor neuropathy) proximal type I|muscular atrophy, infantile|proximal spinal muscular atrophy type 1|spinal muscular atrophy, type I|progressive muscular atrophy of infancy|spinal muscular atrophies of childhood|hereditary motor neuropathy proximal type I|infantile spinal muscular atrophy|spinal muscular atrophy 1	http://purl.obolibrary.org/obo/MONDO_0009669	DOID:13137|https://omim.org/entry/253300|http://identifiers.org/snomedct/64383006|Orphanet:83330|NCIT:C98670	ordo_clinical_subtype
MONDO:0007008	biolink:Disease	uremia	A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms.	EFO:1001226|SCTID:44730006|MedDRA:10046369|MESH:D014511|DOID:4676|UMLS:C0041948	mondo.json	uremia of renal origin	http://purl.obolibrary.org/obo/MONDO_0007008	http://identifiers.org/mesh/D014511|http://identifiers.org/snomedct/44730006|DOID:4676|UMLS:C0041948	
HP:0100584	biolink:PhenotypicFeature	Endocarditis	An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves.	SNOMEDCT_US:56819008|UMLS:C0014118|MSH:D004696	mondo.json		http://purl.obolibrary.org/obo/HP_0100584		
MONDO:0022645	biolink:Disease	cardioencephalomyopathy		GARD:0010673	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022645		gard_rare
MONDO:0010657	biolink:Disease	methylmalonic acidemia with homocystinuria, type cblX		Orphanet:369962|OMIM:309541|UMLS:C0796208|MESH:C563136|GARD:0013137	mondo.json	methylmalonic acidemia and HOMOCYSTEINEMIA, cblX type|methylmalonic aciduria with homocystinuria, type cblX|mental retardation, X-linked 3|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX|methylmalonic aciduria and homocysteinemia, cblx type, X-linked recessive|methylmalonic acidemia and homocysteinemia type cblX|intellectual disability, X-linked 3	http://purl.obolibrary.org/obo/MONDO_0010657	http://identifiers.org/mesh/C563136|https://omim.org/entry/309541|Orphanet:369962|UMLS:C0796208	ordo_clinical_subtype
MONDO:0009668	biolink:Disease	lethal multiple pterygium syndrome	Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition.	GARD:0003834|OMIM:253290|Orphanet:33108|UMLS:C1854678|SCTID:60192008|NCIT:C101038|ICD9:759.89	mondo.json	autosomal recessive lethal multiple pterygium syndrome|lethal multiple pterygium syndrome|LMPS|pterygium syndrome multiple lethal type|pterygium syndrome, multiple, lethal type|multiple pterygium syndrome lethal type|multiple pterygium syndrome, lethal type	http://purl.obolibrary.org/obo/MONDO_0009668	https://omim.org/entry/253290|NCIT:C101038|UMLS:C1854678|http://identifiers.org/snomedct/60192008|Orphanet:33108	ordo_malformation_syndrome|gard_rare
MONDO:0007005	biolink:Disease	ulcerative proctosigmoiditis	Inflammation of the rectum and the distal portion of the colon.	ICD9:556.3|EFO:1001223|SCTID:52506002	mondo.json		http://purl.obolibrary.org/obo/MONDO_0007005	http://identifiers.org/snomedct/52506002	
MONDO:0010656	biolink:Disease	intellectual disability, X-linked 1	An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities.	GARD:0013221|MESH:C567906|OMIM:309530|MESH:C564489|NCIT:C133729	mondo.json	MRX78|mental retardation, X-linked type 1|MRX|X-linked intellectual disability 1|intellectual developmental disorder, X-linked 1, X-linked dominant|mental retardation, X-linked 1|MRX1|mental retardation, X-linked 18|IQSEC2-related epilepsy|mental retardation, X-linked 78|X-linked intellectual disability 78|X-linked intellectual disability 1/78|IQSEC2-related intellectual disability|intellectual disability, X-linked 1|IQSEC2	http://purl.obolibrary.org/obo/MONDO_0010656	http://identifiers.org/mesh/C564489|https://omim.org/entry/309530|NCIT:C133729|http://identifiers.org/mesh/C567906	
MONDO:0009667	biolink:Disease	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.	UMLS:C3151519|NCIT:C126740|OMIM:253280|DOID:0111236|Orphanet:899	mondo.json	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3|muscle-eye-brain-POMGNT1 related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3|MDDGA3|Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related	http://purl.obolibrary.org/obo/MONDO_0009667	UMLS:C3151519|DOID:0111236|https://omim.org/entry/253280|NCIT:C126740	
MONDO:0007006	biolink:Disease	ulnar neuropathy	Disease involving the ulnar nerve from its origin in the brachial plexus to its termination in the hand. Clinical manifestations may include paresis or paralysis of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the axilla, cubital tunnel at the elbow, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)	EFO:1001224|UMLS:C0154743|MESH:D020424|DOID:4613|SCTID:359837005	mondo.json	mononeuropathy of ulnar nerve|ulnar neuropathy|ulnar nerve mononeuropathy|ulnar neuropathy (disorder) [ambiguous]	http://purl.obolibrary.org/obo/MONDO_0007006	DOID:4613|UMLS:C0154743|http://identifiers.org/mesh/D020424|http://identifiers.org/snomedct/359837005	
MONDO:0009666	biolink:Disease	holocarboxylase synthetase deficiency	A life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.	DOID:859|OMIM:253270|Orphanet:79242|SCTID:360369003|NCIT:C98842|GARD:0002721|ICD9:270.8|MESH:D028922|SCTID:15307001|UMLS:C0268581	mondo.json	neonatal multiple carboxylase deficiency|early-onset multiple carboxylase deficiency|HLCS deficiency|multiple carboxylase deficiency, early onset|multiple carboxylase deficiency|multiple carboxylase deficiency, neonatal form|holocarboxylase synthetase deficiency|multiple carboxylase deficiency - neonatal onset|biotin-(propionyl-CoA-carboxylase) ligase deficiency|holocarboxylase synthase deficiency	http://purl.obolibrary.org/obo/MONDO_0009666	http://identifiers.org/snomedct/360369003|http://identifiers.org/snomedct/15307001|https://omim.org/entry/253270|DOID:859|Orphanet:79242|NCIT:C98842|UMLS:C0268581|http://identifiers.org/mesh/D028922	gard_rare|ordo_disease
MONDO:0010659	biolink:Disease	FRAXE intellectual disability	A nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.	GARD:0002378|Orphanet:100973|SCTID:716709002|UMLS:C0751157|OMIM:309548	mondo.json	FRAXE intellectual disability|fragile XE syndrome|FRAXE intellectual disability syndrome|FRAXE syndrome|fragile site, folic acid type|X-linked intellectual disability associated with fragile site FRAXE|mental retardation, X-linked, associated with fragile site FRAXE|intellectual developmental disorder, X-linked 109, X-linked recessive|X-linked mental retardation associated with fragile site FRAXE|intellectual disability associated with fragile site FRAXE|FRAXE mental retardation syndrome|intellectual disability, X-linked, associated with fragile site FRAXE	http://purl.obolibrary.org/obo/MONDO_0010659	https://omim.org/entry/309548|Orphanet:100973|http://identifiers.org/snomedct/716709002|UMLS:C0751157	gard_rare|ordo_disease
HGNC:29304	biolink:NamedThing	UVSSA			mondo.json		http://identifiers.org/hgnc/29304		
MONDO:0007003	biolink:Disease	obsolete twin-to-twin transfusion syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007003		
MONDO:0009665	biolink:Disease	biotinidase deficiency	Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.	OMIM:253260|UMLS:CN043572|SCTID:8808004|Orphanet:79241|GARD:0000894|DOID:856|ICD10CM:D81.810|NCIT:C84598|MedDRA:10071434|MESH:D028921|UMLS:C0220754|ICD9:277.6	mondo.json	deficiency of biotinidase|late-onset multiple carboxylase deficiency|multiple carboxylase deficiency, juvenile-onset|biotin deficiency|biotinidase deficiency|juvenile-onset multiple carboxylase deficiency|multiple carboxylase deficiency, late-onset|BTD deficiency|late-onset biotin-responsive multiple carboxylase deficiency	http://purl.obolibrary.org/obo/MONDO_0009665	http://purl.bioontology.org/ontology/ICD10CM/D81.810|DOID:856|https://omim.org/entry/253260|UMLS:CN043572|Orphanet:79241|UMLS:C0220754|NCIT:C84598|http://identifiers.org/snomedct/8808004|http://identifiers.org/mesh/D028921	ordo_disease
MONDO:0010658	biolink:Disease	syndromic X-linked intellectual disability 12	X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome.	SCTID:719009006|Orphanet:85290|DOID:0060804|OMIM:309545|MESH:C564106|UMLS:C1839792	mondo.json	X-linked intellectual disability, Wilson type|MRXS12|mental retardation, X-linked, syndromic 12|syndromic X-linked intellectual disability type 12|intellectual disability, X-linked, syndromic 12	http://purl.obolibrary.org/obo/MONDO_0010658	UMLS:C1839792|http://identifiers.org/mesh/C564106|https://omim.org/entry/309545|DOID:0060804|http://identifiers.org/snomedct/719009006|Orphanet:85290	ordo_malformation_syndrome
MONDO:0007004	biolink:Disease	type III hypersensitivity disease	Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa.	MESH:D007105|EFO:1001222|MedDRA:10045265|UMLS:C0020951|DOID:1557|NCIT:C114346	mondo.json	disorder of type III hypersensitivity|type III hypersensitivity reaction|hypersensitivity reaction type III disease|type 3 hypersensitivity reaction|type III hypersensitivity|immune complex disease	http://purl.obolibrary.org/obo/MONDO_0007004	http://identifiers.org/mesh/D007105|NCIT:C114346|DOID:1557|UMLS:C0020951	
MONDO:0007001	biolink:Disease	tricuspid valve prolapse	Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. This allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. Its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus.	HP:0001704|MedDRA:10066862|Orphanet:95458|UMLS:C0040962|DOID:5644|SCTID:253383003|EFO:1001218|MESH:D014263	mondo.json	tricuspid valve prolapse|tricuspid valve prolapse (disease)	http://purl.obolibrary.org/obo/MONDO_0007001	DOID:5644|Orphanet:95458|UMLS:C0040962|http://identifiers.org/snomedct/253383003|http://identifiers.org/mesh/D014263	ordo_morphological_anomaly
MONDO:0009664	biolink:Disease	mulibrey nanism	A prenatal onset growth disorder with multiorgan manifestations.	UMLS:C2931895|MESH:D050336|SCTID:81604003|UMLS:C0524582|NCIT:C84906|Orphanet:2576|GARD:0000095|OMIM:253250|ICD9:759.89|DOID:0050436	mondo.json	pericardial constriction and growth failure|pericardial constriction and Growth failure|Perheentupa syndrome|mulibrey nanism|pericardial constriction-growth failure syndrome|mulibrey dwarfism|MUL|muscle-liver-brain-eye nanism	http://purl.obolibrary.org/obo/MONDO_0009664	DOID:0050436|https://omim.org/entry/253250|UMLS:C0524582|http://identifiers.org/snomedct/81604003|http://identifiers.org/mesh/D050336|UMLS:C2931895|NCIT:C84906|Orphanet:2576	ordo_malformation_syndrome|gard_rare
MONDO:0007002	biolink:Disease	trochlear nerve disorder	A disease involving the trochlear nerve.	ICD9:378.53|MESH:D020432|NCIT:C78395|EFO:1001220|DOID:13864|MedDRA:10074765|SCTID:20610004	mondo.json	trochlear nerve disease or disorder|IVth nerve disorder|superior oblique muscle innervation disorder|IVth cranial nerve disorder|trochlear nerve disease|disorder of trochlear nerve|disease or disorder of trochlear nerve|trochlear nerve disorder|disease of trochlear nerve	http://purl.obolibrary.org/obo/MONDO_0007002	DOID:13864|http://identifiers.org/mesh/D020432|NCIT:C78395	
MONDO:0009663	biolink:Disease	mucus inspissation of respiratory tract		OMIM:253240|MESH:C565366|UMLS:C1854729	mondo.json	mucus inspissation of respiratory tract	http://purl.obolibrary.org/obo/MONDO_0009663	http://identifiers.org/mesh/C565366|https://omim.org/entry/253240|UMLS:C1854729	
MONDO:0009662	biolink:Disease	mucopolysaccharidosis type 7	Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses.	DOID:12803|SCTID:43916004|Orphanet:584|MedDRA:10056893|MESH:D016538|NCIT:C84903|OMIM:253220|UMLS:C0085132|GARD:0007096	mondo.json	Sly disease|mucopolysaccharidosis type VII|Gus deficiency|mucopolysaccharidosis, type 7|mucopolysaccharidosis type 7|MPSVII|MPS 7|MPS7|Sly syndrome|MPS VII|MPS VII - Sly syndrome|deficiency of beta-glucuronidase|beta-glucuronidase deficiency|MPS VII - mucopolysaccharidosis VII|gusb deficiency|mucopolysaccharidosis, type VII|mucopolysaccharidosis VII|mucopolysaccharidosis, mps-VII|Gusb deficiency|Beta-glucuronidase deficiency	http://purl.obolibrary.org/obo/MONDO_0009662	https://omim.org/entry/253220|Orphanet:584|http://identifiers.org/snomedct/43916004|DOID:12803|http://identifiers.org/mesh/D016538|NCIT:C84903|UMLS:C0085132	ordo_disease
HGNC:29300	biolink:NamedThing	KANK2			mondo.json		http://identifiers.org/hgnc/29300		
MONDO:0009661	biolink:Disease	mucopolysaccharidosis type 6	Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.	MedDRA:10056892|Orphanet:583|DOID:12800|NCIT:C61264|MESH:D009087|OMIM:253200|UMLS:C0026709|SCTID:69463008|GARD:0007095	mondo.json	ARSB deficiency|Maroteaux - Lamy syndrome|ASB deficiency|Maroteaux-Lamy disease|Arsb deficiency|MPSVI|mucopolysaccharidosis type VI (Maroteaux-Lamy)|mucopolysaccharidosis type VI|MPS VI|mucopolysaccharidosis VI|MPS 6|deficiency of N-acetylgalactosamine-4-sulfatase|Maroteaux Lamy syndrome|MPS6|arylsulfatase B deficiency|Mucopoly-saccharidosis type VI|N-acetylgalactosamine 4-sulfatase deficiency|MPS VI - Maroteaux-Lamy syndrome|Maroteaux-Lamy syndrome|N-acetylgalactosamine-4-sulfatase deficiency	http://purl.obolibrary.org/obo/MONDO_0009661	Orphanet:583|https://omim.org/entry/253200|NCIT:C61264|http://identifiers.org/snomedct/69463008|DOID:12800|http://identifiers.org/mesh/D009087|UMLS:C0026709	ordo_disease
MONDO:0007000	biolink:Disease	Treponema infectious disease	An disease caused by infection with Treponema.	MESH:D014211|GARD:0007798|EFO:1001217|NCIT:C85197	mondo.json	bejel|Treponema disease or disorder|infection, Treponemal|infections, Treponemal|Bejels|Treponemal infection|Treponema caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0007000	NCIT:C85197|http://identifiers.org/mesh/D014211	
GO:0042582	biolink:NamedThing	azurophil granule	Primary lysosomal granule found in neutrophil granulocytes. Contains a wide range of hydrolytic enzymes and is released into the extracellular fluid.		mondo.json	primary granule	http://purl.obolibrary.org/obo/GO_0042582		
MONDO:0009660	biolink:Disease	mucopolysaccharidosis type 4B	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature.	GARD:0003786|Orphanet:309310|SCTID:238044004|UMLS:C0086652|OMIM:253010|DOID:0111392|NCIT:C84902	mondo.json	Morquio disease type B|MPS IVB|mucopolysaccharidosis, type IVB|MPS IV B|MPS 4B|MPSIVB|Beta-D-galactosidase deficiency|Morquio syndrome B|mucopolysaccharidosis type IVB|mucopolysaccharidosis, type 4B|mucopolysaccharidosis type IVB (Morquio)|MPS4B	http://purl.obolibrary.org/obo/MONDO_0009660	DOID:0111392|Orphanet:309310|NCIT:C84902|UMLS:C0086652|http://identifiers.org/snomedct/238044004|https://omim.org/entry/253010	ordo_clinical_subtype
MONDO:0010660	biolink:Disease	intellectual disability, X-linked 9	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene.	MESH:C563137|OMIM:309549|UMLS:C0796215	mondo.json	intellectual developmental disorder, X-linked 9, X-linked recessive|intellectual disability, X-linked type 9|mental retardation, X-linked 9|MRX9|mental retardation, X-linked 44|non-syndromic X-linked intellectual disability caused by mutation in FTSJ1|intellectual disability, X-linked 9|FTSJ1 non-syndromic X-linked intellectual disability|mental retardation, X-linked type 9|intellectual disability, X-linked 44	http://purl.obolibrary.org/obo/MONDO_0010660	UMLS:C0796215|http://identifiers.org/mesh/C563137|https://omim.org/entry/309549	
MONDO:0010662	biolink:Disease	paraplegia-intellectual disability-hyperkeratosis syndrome	A syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition.	Orphanet:2824|OMIM:309560|UMLS:C2745996|GARD:0002344|MESH:C537058	mondo.json	mental retardation with spastic paraplegia and palmoplantar hyperkeratosis|Fitzsimmons-McLachlan-Gilbert syndrome|intellectual disability with spastic paraplegia and palmoplantar hyperkeratosis	http://purl.obolibrary.org/obo/MONDO_0010662	UMLS:C2745996|http://identifiers.org/mesh/C537058|Orphanet:2824|https://omim.org/entry/309560	ordo_malformation_syndrome
MONDO:0010661	biolink:Disease	severe X-linked intellectual disability, Gustavson type	Severe X-linked intellectual disability, Gustavson type is characterised by X-linked intellectual disability, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood.	MESH:C536759|UMLS:C0795965|GARD:0005611|SCTID:722213009|OMIM:309555|Orphanet:3078	mondo.json	X-linked mental retardation Gustavson type|gust|mental retardation X-linked severe Gustavson type|intellectual disability X-linked severe Gustavson type|intellectual disability with optic atrophy, deafness, and seizures|Gustavson syndrome|mental retardation with optic atrophy, deafness, and seizures|X-linked intellectual disability Gustavson type	http://purl.obolibrary.org/obo/MONDO_0010661	Orphanet:3078|UMLS:C0795965|http://identifiers.org/snomedct/722213009|http://identifiers.org/mesh/C536759|https://omim.org/entry/309555	ordo_malformation_syndrome
RO:0002506	biolink:NamedThing	causal relation between entities			mondo.json		http://purl.obolibrary.org/obo/RO_0002506		
MONDO:0010664	biolink:Disease	syndromic X-linked intellectual disability Snyder type	Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed.	SCTID:702416008|DOID:0060802|Orphanet:3063|ICD9:758.89|UMLS:C0796160|GARD:0005615|MESH:C536678|OMIM:309583	mondo.json	X-linked intellectual disability, Snyder type|mental retardation, X-linked, syndromic, Snyder-Robinson type|SRS|X-linked mental retardation Snyder-Robinson type|Snyder-Robinson syndrome|spermine synthase deficiency|X-linked intellectual disability Snyder-Robinson type|mental retardation, X-linked, Snyder-Robinson type|intellectual disability, X-linked, syndromic, Snyder-Robinson type|syndromic X-linked intellectual disability Snyder type|Snyder-Robinson mental retardation syndrome|MRXSSR|intellectual disability, X-linked, Snyder-Robinson type|intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, X-linked recessive|Snyder-Robinson intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0010664	DOID:0060802|Orphanet:3063|UMLS:C0796160|http://identifiers.org/snomedct/702416008|http://identifiers.org/mesh/C536678|https://omim.org/entry/309583	ordo_disease
GO:0042589	biolink:NamedThing	zymogen granule membrane	The lipid bilayer surrounding a zymogen granule.		mondo.json		http://purl.obolibrary.org/obo/GO_0042589		
HGNC:17328	biolink:NamedThing	DTNBP1			mondo.json		http://identifiers.org/hgnc/17328		
MONDO:0010663	biolink:Disease	intellectual disability-hypotonic facies syndrome, X-linked, 1	A group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features.	Orphanet:93974|UMLS:C0796159|Orphanet:93973|OMIM:309580|Orphanet:93971|UMLS:CN206718|GARD:0000081|UMLS:CN206716|Orphanet:73220|SCTID:717763008|GARD:0001357|SCTID:719212004|UMLS:CN205653|GARD:0003521|MESH:C537445	mondo.json	mental retardation-hypotonic facies syndrome, X-linked, X-linked recessive|X-linked hypogonadism gynecomastia mental retardation|mental retardation-hypotonic facies syndrome, X-linked, type 1|Carpenter-Waziri syndrome|Smith Fineman Myers syndrome 1|Chudley-Lowry syndrome|intellectual disability, X-linked, with growth retardation, deafness, and microgenitalism|XLMR-hypotonic facies syndrome|intellectual disability-hypotonic facies syndrome X-linked, 1|X-linked hypogonadism gynecomastia intellectual disability|MRXHF1|mental retardation, X-linked, with growth retardation, deafness, and microgenitalism|SFM1|Juberg-Marsidi mental retardation syndrome|Juberg Marsidi syndrome|Chudley mental retardation syndrome|Chudley intellectual disability syndrome|Juberg-Marsidi syndrome|Holmes-Gang syndrome|JMS|intellectual disability-hypotonic facies syndrome, X-linked, 1|mental retradation, X-linked with Growth delay, deafness, microgenitalism|X-linked intellectual disability-hypotonic face syndrome|Chudley-Lowry-Hoar syndrome|Smith-Fineman-Myers syndrome|mental retardation Smith Fineman Myers type|Chudley syndrome 1|mental retardation-hypotonic facies syndrome X-linked, 1|SFMS|Chudley Lowry Hoar syndrome|intellectual disability Smith Fineman Myers type|mental retardation-hypotonic facies syndrome, X-linked, 1|intellectual disability-hypotonic facies syndrome, X-linked, type 1	http://purl.obolibrary.org/obo/MONDO_0010663	http://identifiers.org/snomedct/719212004|UMLS:CN205653|http://identifiers.org/snomedct/717763008|UMLS:C0796159|Orphanet:93971|Orphanet:93974|Orphanet:93973|Orphanet:73220|http://identifiers.org/mesh/C537445|https://omim.org/entry/309580|UMLS:CN206716|UMLS:CN206718	ordo_group_of_disorders|gard_rare|disease_grouping|ordo_malformation_syndrome
GO:0042588	biolink:NamedThing	zymogen granule	A membrane-bounded, cytoplasmic secretory granule found in enzyme-secreting cells and visible by light microscopy. Contain zymogen, an inactive enzyme precursor, often of a digestive enzyme.		mondo.json		http://purl.obolibrary.org/obo/GO_0042588		
RO:0002500	biolink:NamedThing	causal agent in process	A relationship between a material entity and a process where the material entity has some causal role that influences the process		mondo.json		http://purl.obolibrary.org/obo/RO_0002500		
HGNC:17327	biolink:NamedThing	WAC			mondo.json		http://identifiers.org/hgnc/17327		
MONDO:0010666	biolink:Disease	obsolete Miles-Carpenter syndrome		OMIM:309605	mondo.json		http://purl.obolibrary.org/obo/MONDO_0010666	https://omim.org/entry/309605	
RO:0002501	biolink:NamedThing	causal relation between processes	p is causally related to q if and only if p or any part of p and q or any part of q are linked by a chain of events where each event pair is one of direct activation or direct inhibition. p may be upstream, downstream, part of or a container of q.		mondo.json		http://purl.obolibrary.org/obo/RO_0002501		
MONDO:0010665	biolink:Disease	Wilson-Turner syndrome	A very rare genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.	SCTID:719834005|MESH:C536708|DOID:0060814|OMIM:309585|Orphanet:3459|GARD:0005579	mondo.json	intellectual disability, X-linked, syndromic 6 (formerly)|mental retardation, X-linked, with gynecomastia and obesity|Wilson Turner intellectual disability syndrome (formerly)|Wilson Turner mental retardation syndrome (formerly)|intellectual disability, X-linked, with gynecomastia and obesity|intellectual disability, X-linked, syndromic 6|Wilson-TURNER X-linked mental retardation syndrome|mental retardation, X-linked, with gynecomastia and obesity (formerly)|WTS|Wilson-TURNER X-linked intellectual disability syndrome|X-linked intellectual disability - gynecomastia - obesity|intellectual disability, X-linked, with gynecomastia and obesity (formerly)|mental retardation, X-linked, syndromic 6 (formerly)|Wilson-Turner syndrome, X-linked recessive|MRXS6|X-linked intellectual disability-gynecomastia-obesity syndrome|mental retardation, X-linked, syndromic 6	http://purl.obolibrary.org/obo/MONDO_0010665	https://omim.org/entry/309585|DOID:0060814|Orphanet:3459|http://identifiers.org/snomedct/719834005|http://identifiers.org/mesh/C536708	ordo_malformation_syndrome|gard_rare
RO:0002502	biolink:NamedThing	depends on			mondo.json		http://purl.obolibrary.org/obo/RO_0002502		
MONDO:0022636	biolink:Disease	candida glabrata infection		GARD:0008171	mondo.json	candida glabrata|Torulopsis glabrata (formerly)	http://purl.obolibrary.org/obo/MONDO_0022636		gard_rare
HGNC:19986	biolink:NamedThing	CYCS			mondo.json		http://identifiers.org/hgnc/19986		
MONDO:0022639	biolink:Disease	Cantu sanchez-corona Garcia-Cruz syndrome		GARD:0001082	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022639		gard_rare
RO:0002507	biolink:NamedThing	determined by	s determined by f if and only if s is a type of system, and f is a material entity that is part of s, such that f exerts a strong causal influence on the functioning of s, and the removal of f would cause the collapse of s.		mondo.json		http://purl.obolibrary.org/obo/RO_0002507		
RO:0002508	biolink:NamedThing	determines	inverse of determined by		mondo.json		http://purl.obolibrary.org/obo/RO_0002508		
RO:0002509	biolink:NamedThing	determined by part of	s 'determined by part of' w if and only if there exists some f such that (1) s 'determined by' f and (2) f part_of w, or f=w.		mondo.json		http://purl.obolibrary.org/obo/RO_0002509		
HGNC:17321	biolink:NamedThing	SP7			mondo.json		http://identifiers.org/hgnc/17321		
HP:0100598	biolink:PhenotypicFeature	Pulmonary edema	Fluid accumulation in the lungs.	UMLS:C0034063|SNOMEDCT_US:19242006|MSH:D011654	mondo.json	Pulmonary oedema|Wet lung|Excess fluid in lungs|Lung edema|Lung oedema	http://purl.obolibrary.org/obo/HP_0100598		
MONDO:0022633	biolink:Disease	camptodactyly joint contractures and facial skeletal dysplasia		MESH:C537969	mondo.json		http://purl.obolibrary.org/obo/MONDO_0022633	http://identifiers.org/mesh/C537969	
MONDO:0007018	biolink:Disease	vulvitis	Inflammation of the vulva. It is characterized by pruritus and painful urination.	DOID:3901|MESH:D014847|SCTID:63144007|EFO:1001239|UMLS:C0042996|MedDRA:10047780	mondo.json	mammalian vulva inflammation|inflammation of mammalian vulva	http://purl.obolibrary.org/obo/MONDO_0007018	http://identifiers.org/mesh/D014847|http://identifiers.org/snomedct/63144007|UMLS:C0042996|DOID:3901	
MONDO:0007019	biolink:Disease	vulvovaginitis	An inflammatory pathologic process that affects the vulva and the vagina.	MESH:D014848|MedDRA:10047794|UMLS:C0042998|EFO:1001240|DOID:2273|SCTID:53277000|NCIT:C35131	mondo.json	Vulvo-vaginitis	http://purl.obolibrary.org/obo/MONDO_0007019	NCIT:C35131|http://identifiers.org/mesh/D014848|UMLS:C0042998|DOID:2273|http://identifiers.org/snomedct/53277000	
MONDO:0022634	biolink:Disease	camptodactyly vertebral fusion		MESH:C537973|UMLS:C2931682|GARD:0001070	mondo.json	camptodactyly and sacral vertebral fusion|camptodactyly and sacral vertebral fusion (subtype)	http://purl.obolibrary.org/obo/MONDO_0022634	UMLS:C2931682|http://identifiers.org/mesh/C537973	gard_rare
MONDO:0007016	biolink:Disease	vitamin A deficiency	Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia.	MESH:D014802|HP:0004905|UMLS:C0042842|SCTID:72000004|NCIT:C85220|ICD9:264|MedDRA:10047586|ICD9:264.8|EFO:1001237|ICD9:264.9	mondo.json	vitamin A deficiency|vitamin A deficiency (disease)|deficiencies, vitamin A|deficiency, vitamin A|vitamin A deficiencies	http://purl.obolibrary.org/obo/MONDO_0007016	http://identifiers.org/mesh/D014802|UMLS:C0042842|http://identifiers.org/snomedct/72000004|NCIT:C85220	
MONDO:0009679	biolink:Disease	arthrogryposis due to muscular dystrophy		UMLS:C1850865|Orphanet:1155|DOID:0110631|OMIM:253900|GARD:0000779|MESH:C564985	mondo.json	congenital muscular dystrophy producing arthrogryposis|muscular dystrophy, congenital, producing arthrogryposis	http://purl.obolibrary.org/obo/MONDO_0009679	DOID:0110631|https://omim.org/entry/253900|http://identifiers.org/mesh/C564985|UMLS:C1850865	gard_rare|ordo_disease
MONDO:0010646	biolink:Disease	macular dystrophy, X-linked		MESH:C564110|UMLS:C1839842|OMIM:309100	mondo.json	macular dystrophy, X-linked	http://purl.obolibrary.org/obo/MONDO_0010646	UMLS:C1839842|http://identifiers.org/mesh/C564110|https://omim.org/entry/309100	
MONDO:0009678	biolink:Disease	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.	Orphanet:272|SCTID:111502003|Orphanet:899|UMLS:C0410174|DOID:0050559|OMIM:253800|NCIT:C126741	mondo.json	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Fukuyama congenital muscular dystrophy|muscle-eye-brain-FKTN related|congenital muscular dystrophy, Fukuyama type|FCMD|MDDGA4|muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4|Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related	http://purl.obolibrary.org/obo/MONDO_0009678	Orphanet:272|DOID:0050559|http://identifiers.org/snomedct/111502003|https://omim.org/entry/253800|NCIT:C126741|UMLS:C0410174	ordo_disease
MONDO:0010645	biolink:Disease	oculocerebrorenal syndrome	Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.	NCIT:C84940|DOID:1056|SCTID:79385002|OMIM:309000|GARD:0003295|UMLS:C0028860|MESH:D009800|Orphanet:534|MedDRA:10051707|ICD9:270.8	mondo.json	Lowe syndrome|oculocerebrorenal dystrophy|Lowe disease|OCR|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|Lowe syndrome, X-linked recessive|Lowe oculocerebrorenal syndrome|oculocerebrorenal syndrome of Lowe|oculo-cerebro-renal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal syndrome|Lowe oculo-cerebro-renal syndrome|Ocrl1|OCRL|oculocerebrorenal syndrome	http://purl.obolibrary.org/obo/MONDO_0010645	https://omim.org/entry/309000|DOID:1056|http://identifiers.org/snomedct/79385002|NCIT:C84940|UMLS:C0028860|http://identifiers.org/mesh/D009800|Orphanet:534	ordo_malformation_syndrome
MONDO:0007017	biolink:Disease	vitreous detachment	Detachment of the vitreous humor from the retina.	NCIT:C50807|MESH:D020255|DOID:9726|UMLS:C0042907|MedDRA:10047650|EFO:1001238|SCTID:53772007	mondo.json	vitreous, detachment Of|detachment Of vitreous	http://purl.obolibrary.org/obo/MONDO_0007017	UMLS:C0042907|NCIT:C50807|http://identifiers.org/snomedct/53772007|DOID:9726|http://identifiers.org/mesh/D020255	
MONDO:0009677	biolink:Disease	autosomal recessive limb-girdle muscular dystrophy type 2C	Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.	UMLS:C0410173|DOID:0110277|OMIM:253700|GARD:0002429|MESH:C535900|Orphanet:353	mondo.json	sarcoglycan, gamma, deficiency of|SCARMD|limb-girdle muscular dystrophy, type 2C|autosomal recessive Duchenne-like muscular dystrophy type 1|autosomal recessive limb-girdle muscular dystrophy type 2C|limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency|muscular dystrophy, Duchenne-like|Adhalin deficiency, secondary|SGCG autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, type 2C|autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCG|Maghrebian myopathy|Duchenne-like muscular dystrophy, autosomal recessive, type 1|gamma-sarcoglycanopathy|severe childhood autosomal recessive muscular dystrophy, North African type|limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency|deficiency of sarcoglycan gamma|Dmda|severe childhood autosomal recessive muscular dystrophy North African type|DMDA1|muscular dystrophy, limb-girdle, autosomal recessive 5|LGMD2C	http://purl.obolibrary.org/obo/MONDO_0009677	Orphanet:353|DOID:0110277|https://omim.org/entry/253700|http://identifiers.org/mesh/C535900|UMLS:C0410173	ordo_disease
MONDO:0007014	biolink:Disease	vibrio infectious disease	Infections with bacteria of the genus vibrio.	MESH:D014735|UMLS:C0042636|EFO:1001235	mondo.json	Vibrio infectious disease|vibrio infectious disease|Vibrio caused disease or disorder|Vibrio disease or disorder	http://purl.obolibrary.org/obo/MONDO_0007014	UMLS:C0042636|http://identifiers.org/mesh/D014735	
MONDO:0010648	biolink:Disease	major affective disorder 2		OMIM:309200|MESH:C564108|DOID:0080221	mondo.json	major affective disorder 2, X-linked dominant|manic-depressive illness|major affective disorder 2|manic-depressive psychosis, X-linked|bipolar affective disorder|MAJOR affective disorder 2|MAFD2	http://purl.obolibrary.org/obo/MONDO_0010648	http://identifiers.org/mesh/C564108|https://omim.org/entry/309200	
MONDO:0007015	biolink:Disease	viral meningitis	Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection.	DOID:10310|MedDRA:10047469|ICD9:047.9|ICD9:321.2|MESH:D008587|NCIT:C118298|ICD9:047.8|SCTID:58170007|UMLS:C0025297|ICD10CM:A87|EFO:1001236	mondo.json		http://purl.obolibrary.org/obo/MONDO_0007015	http://purl.bioontology.org/ontology/ICD10CM/A87|UMLS:C0025297|http://identifiers.org/mesh/D008587|DOID:10310|http://identifiers.org/snomedct/58170007|NCIT:C118298	
MONDO:0009676	biolink:Disease	autosomal recessive limb-girdle muscular dystrophy type 2B	Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.	SCTID:718179003|NCIT:C142080|DOID:0110276|GARD:0008574|Orphanet:268|OMIM:253601|MESH:C535899	mondo.json	muscular dystrophy, limb-girdle, autosomal recessive 2|limb-girdle muscular dystrophy, type 2B|limb-girdle muscular dystrophy type 3|limb-girdle muscular dystrophy type 2B|DYSF autosomal recessive limb-girdle muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF|LGMD3|muscular dystrophy, limb-girdle, type 3|muscular dystrophy, limb-girdle, type 2B|LGMD2B|limb-girdle muscular dystrophy due to dysferlin deficiency	http://purl.obolibrary.org/obo/MONDO_0009676	http://identifiers.org/snomedct/718179003|DOID:0110276|https://omim.org/entry/253601|NCIT:C142080|http://identifiers.org/mesh/C535899|Orphanet:268	ordo_disease
MONDO:0010647	biolink:Disease	spermatogenic failure, X-linked, 2	Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene.	UMLS:C1839841|DOID:0070185|OMIM:309120	mondo.json	Male infertility from defect in meiosis|spermatogenic failure, X-linked, 2, X-linked recessive|spermatogenic failure, X-linked, type 2|TEX11 azoospermia|spermatogenic failure, X-linked, 2|SPGFX2|azoospermia caused by mutation in TEX11	http://purl.obolibrary.org/obo/MONDO_0010647	UMLS:C1839841|https://omim.org/entry/309120|DOID:0070185	
HGNC:29316	biolink:NamedThing	ZSWIM6			mondo.json		http://identifiers.org/hgnc/29316		
MONDO:0009675	biolink:Disease	autosomal recessive limb-girdle muscular dystrophy type 2A	Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.	SCTID:715341003|MESH:C535895|GARD:0001057|Orphanet:267|NCIT:C142079|DOID:0110275|OMIM:253600|GARD:0003845	mondo.json	limb-girdle muscular dystrophy type 2|myositis, eosinophilic|calpainopathy|muscular dystrophy, Pelvofemoral|muscular dystrophy, limb-girdle, autosomal recessive 1|muscular dystrophy limb girdle type 2A, erb type|Leyden-Moebius muscular dystrophy|limb-girdle muscular dystrophy due to calpain deficiency|autosomal recessive limb-girdle muscular dystrophy type 2A|muscular dystrophy, limb-girdle, type 2A|CAPN3 autosomal recessive limb-girdle muscular dystrophy|LGMD2|pelvofemoral muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3|LGMD2A|muscular dystrophy, limb-girdle, type 2|primary calpainopathy|limb-girdle muscular dystrophy type 2A	http://purl.obolibrary.org/obo/MONDO_0009675	DOID:0110275|https://omim.org/entry/253600|NCIT:C142079|http://identifiers.org/mesh/C535895|http://identifiers.org/snomedct/715341003|Orphanet:267	ordo_disease
MONDO:0007012	biolink:Disease	variant Creutzfeldt-Jakob disease	A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy.	EFO:1001233|ICD10CM:A81.01|ICD9:046.11|SCTID:304603007|NCIT:C26802|Orphanet:576370|NCIT:C128438|UMLS:C0085209|DOID:5435|GARD:0009550|MESH:D016643|MedDRA:10064199	mondo.json	vCJD	http://purl.obolibrary.org/obo/MONDO_0007012	NCIT:C128438|Orphanet:576370|http://identifiers.org/snomedct/304603007|UMLS:C0085209|http://purl.bioontology.org/ontology/ICD10CM/A81.01|DOID:5435	ordo_disease
GO:0042592	biolink:NamedThing	homeostatic process	Any biological process involved in the maintenance of an internal steady state.		mondo.json	positive regulation of homeostatic process|homeostasis|negative regulation of homeostatic process|inhibition of homeostatic process|regulation of homeostatic process|activation of homeostatic process	http://purl.obolibrary.org/obo/GO_0042592		
MONDO:0009674	biolink:Disease	muscular dystrophy, adult-onset, with leukoencephalopathy		OMIM:253590|UMLS:C1854646|MESH:C565361	mondo.json	muscular dystrophy, adult-onset, with leukoencephalopathy	http://purl.obolibrary.org/obo/MONDO_0009674	http://identifiers.org/mesh/C565361|https://omim.org/entry/253590|UMLS:C1854646	
MONDO:0007013	biolink:Disease	vasculogenic impotence	Inability to achieve and maintain an erection (erectile dysfunction) due to defects in the arterial blood flow to the penis, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both.	EFO:1001234|MESH:D018783|UMLS:C0243000|DOID:4762	mondo.json		http://purl.obolibrary.org/obo/MONDO_0007013	DOID:4762|http://identifiers.org/mesh/D018783|UMLS:C0243000	
MONDO:0010649	biolink:Disease	isolated congenital megalocornea	Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.	OMIM:309300|SCTID:734026006|GARD:0012648|Orphanet:91489	mondo.json	isolated congenital megalocornea|MGC1|megalocornea 1, X-linked, X-linked recessive|congenital anterior megalophthalmia|Mgcn|megalocornea	http://purl.obolibrary.org/obo/MONDO_0010649	https://omim.org/entry/309300|http://identifiers.org/snomedct/734026006|Orphanet:91489	ordo_morphological_anomaly
MONDO:0009673	biolink:Disease	spinal muscular atrophy, type II	Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.	Orphanet:83418|DOID:0050530|SCTID:128212001|OMIM:253550|GARD:0004945|MESH:C536879|ICD9:335.19	mondo.json	SMA2|chronic spinal muscular atrophy|spinal muscular atrophy type II|Sma 2|SMA II|proximal spinal muscular atrophy type 2|muscular atrophy, spinal, infantile chronic form|spinal muscular atrophy type 2|SMA-II|chronic infantile spinal muscular atrophy|muscular atrophy, spinal, intermediate type|SMA type 2|spinal muscular atrophy, type 2|spinal muscular atrophy-2|spinal muscular atrophy, type II|Dubowitz disease|SMA type II|Intermediate spinal muscular atrophy|muscular atrophy, spinal, Intermediate type	http://purl.obolibrary.org/obo/MONDO_0009673	DOID:0050530|https://omim.org/entry/253550|http://identifiers.org/mesh/C536879|http://identifiers.org/snomedct/128212001|Orphanet:83418	ordo_clinical_subtype
MONDO:0007010	biolink:Disease	obsolete uveitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007010		
MONDO:0009672	biolink:Disease	spinal muscular atrophy, type III	Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.	OMIM:253400|GARD:0000198|UMLS:C0700595|DOID:12376|NCIT:C118847|ICD9:335.11|Orphanet:83419|UMLS:C0152109|SCTID:54280009	mondo.json	spinal muscular atrophy-3|proximal spinal muscular atrophy type 3|KWS|spinal muscular atrophy, familial|type III spinal muscular atrophy|Sma 3|Kugelberg-Welander disease|SMA type 3|juvenile spinal muscular atrophy|SMA-III|spinal muscular atrophy, type 3|SMA3|Kugelberg-Welander syndrome|SMA 3|spinal muscular atrophy, mild childhood and adolescent form|spinal muscular atrophy, type III, modifier of|spinal muscular atrophy of childhood|spinal muscular atrophy III|pediatric spinal muscular atrophy|spinal muscular atrophy, type III|SMA type III|childhood spinal muscular atrophy|spinal muscular atrophy type 3|muscular atrophy, juvenile	http://purl.obolibrary.org/obo/MONDO_0009672	https://omim.org/entry/253400|Orphanet:83419|DOID:12376|UMLS:C0152109|UMLS:C0700595|NCIT:C118847|http://identifiers.org/snomedct/54280009	ordo_clinical_subtype|gard_rare
MONDO:0007011	biolink:Disease	uveoparotid fever	A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea.	EFO:1001232|SCTID:4416007|SCTID:31541009|MESH:D014608|DOID:13404|UMLS:C0042171	mondo.json	uveoparotid fever|Heerfordt's syndrome	http://purl.obolibrary.org/obo/MONDO_0007011	DOID:13404|http://identifiers.org/snomedct/4416007|http://identifiers.org/mesh/D014608|UMLS:C0042171	
GO:0042593	biolink:NamedThing	glucose homeostasis	Any process involved in the maintenance of an internal steady state of glucose within an organism or cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0042593		
MONDO:0009671	biolink:Disease	intellectual disability-myopathy-short stature-endocrine defect syndrome	Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.	SCTID:764959000|OMIM:253320|Orphanet:3068|UMLS:C1854663|GARD:0001358|MESH:C535458	mondo.json	Chudley-Rozdilsky syndrome|Chudley syndrome|Chudley Rozdilsky syndrome|multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism|multicore myopathy with intellectual disability, short stature, and hypogonadotropic hypogonadism	http://purl.obolibrary.org/obo/MONDO_0009671	http://identifiers.org/mesh/C535458|UMLS:C1854663|http://identifiers.org/snomedct/764959000|Orphanet:3068|https://omim.org/entry/253320	ordo_disease
MONDO:0009670	biolink:Disease	lethal congenital contracture syndrome 1	Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.	OMIM:253310|MESH:C537194|SCTID:715418007|DOID:0060559|GARD:0003227|Orphanet:1486|UMLS:C1854664	mondo.json	Lccs|GLE1 lethal congenital contracture syndrome|lethal congenital contracture syndrome caused by mutation in GLE1|lethal congenital contracture syndrome type 1|Herva disease|LCCS1|lethal congenital contracture syndrome 1|lethal autosomal recessive syndrome of multiple congenital contractures|multiple contracture syndrome, Finnish type	http://purl.obolibrary.org/obo/MONDO_0009670	http://identifiers.org/snomedct/715418007|UMLS:C1854664|DOID:0060559|http://identifiers.org/mesh/C537194|Orphanet:1486|https://omim.org/entry/253310	ordo_malformation_syndrome
MONDO:0010651	biolink:Disease	Menkes disease	A usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.	Orphanet:565|DOID:1838|OMIM:309400|MESH:D007706|MedDRA:10027294|ICD9:759.89|NCIT:C75486|UMLS:C0022716|GARD:0001521|SCTID:59178007	mondo.json	Trichopoliodystrophy|steely hair disease|Menkea syndrome|Mk|steely hair syndrome|Menkes kinky hair syndrome|MNK|Menkes kinky-hair syndrome|MD|kinky hair disease|Menkes disease|X-linked copper deficiency|Menkes syndrome|copper transport disease|kinky hair syndrome|menkes disease, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0010651	UMLS:C0022716|DOID:1838|http://identifiers.org/snomedct/59178007|Orphanet:565|NCIT:C75486|http://identifiers.org/mesh/D007706|https://omim.org/entry/309400	ordo_disease|gard_rare
MONDO:0010650	biolink:Disease	Melnick-Needles syndrome	A otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.	ICD9:756.59|GARD:0007011|SCTID:13449007|UMLS:C0025237|MedDRA:10060908|OMIM:309350|Orphanet:2484|DOID:0111788	mondo.json	MELNICK-NEEDLES syndrome|osteodysplasty of Melnick and Needles|Melnick-Needles syndrome|Melnick-Needles osteodysplasty|MNS|Melnick-Needles syndrome, X-linked dominant	http://purl.obolibrary.org/obo/MONDO_0010650	Orphanet:2484|UMLS:C0025237|http://identifiers.org/snomedct/13449007|DOID:0111788|https://omim.org/entry/309350	gard_rare|ordo_malformation_syndrome
MONDO:0010653	biolink:Disease	Renpenning syndrome	An X-linked syndrome characterized by intellectual deficiency, microcephaly, leanness and mild short stature.	Orphanet:3242|MESH:C537761|ICD9:759.89|GARD:0009509|DOID:0060179|OMIM:309500|UMLS:C0796135|SCTID:699669001	mondo.json	intellectual disability, X-linked Renpenning type|mental retardation, X-linked 55|RENS1|Sutherland-Haan X-linked intellectual disability syndrome|intellectual disability, X-linked, syndromic 3|X-linked intellectual disability, Renpenning type|X-linked intellectual disability due to PQBP1 mutations|mental retardation, X-linked, syndromic 3|X-linked mental retardation Renpenning type|Renpenning syndrome 1|X-linked mental retardation with spastic diplegia|mental retardation, X-linked Renpenning type|syndromic X-linked mental retardation 8|Sutherland-Haan X-linked mental retardation syndrome|Golabi-Ito-Hall syndrome|MRXS8|Sutherland-Haan syndrome|intellectual disability, X-linked, Renpenning type|syndromic X-linked intellectual disability 8|X-linked intellectual disability syndromic 3|Renpenning syndrome type 1|intellectual disability, X-linked, syndromic 8|intellectual disability, X-linked, with spastic diplegia|mental retardation, X-linked, Renpenning type|MRXS3|X-linked mental retardation syndromic 3|Renpenning syndrome|X-linked intellectual disability Renpenning type|mental retardation, X-linked, with spastic diplegia|intellectual disability, X-linked 55|mental retardation, X-linked, syndromic 8|renpenning syndrome, X-linked recessive|X-linked intellectual disability with spastic diplegia	http://purl.obolibrary.org/obo/MONDO_0010653	DOID:0060179|https://omim.org/entry/309500|http://identifiers.org/snomedct/699669001|UMLS:C0796135|Orphanet:3242|http://identifiers.org/mesh/C537761	ordo_malformation_syndrome
MONDO:0010652	biolink:Disease	X-linked intellectual disability-seizures-psoriasis syndrome	X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive.	SCTID:719810000|OMIM:309480|MESH:C536978|Orphanet:3052|GARD:0005238	mondo.json	mental retardation X-linked, Tranebjaerg type seizures and psoriasis|X-linked mental retardation associated with psoriasis|intellectual disability X-linked, Tranebjaerg type seizures and psoriasis|Tranebjaerg-Svejgaard syndrome|intellectual disability and psoriasis|mental retardation and psoriasis|X-linked intellectual disability associated with psoriasis|Tranebjaerg Svejgaard syndrome|X-linked intellectual disability - seizures - psoriasis	http://purl.obolibrary.org/obo/MONDO_0010652	https://omim.org/entry/309480|Orphanet:3052|http://identifiers.org/snomedct/719810000|http://identifiers.org/mesh/C536978	ordo_disease
MONDO:0010655	biolink:Disease	X-linked intellectual disability with marfanoid habitus	The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.	SCTID:422437002|OMIM:309520|GARD:0003307|MESH:C537724|Orphanet:776	mondo.json	Lujan-Fryns syndrome|intellectual disability, X-linked, with Marfanoid habitus|Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies|LUJAN-Fryns syndrome|Lujan-Fryns syndrome, X-linked recessive|mental retardation, X-linked, with Marfanoid habitus|Lujan syndrome	http://purl.obolibrary.org/obo/MONDO_0010655	http://identifiers.org/snomedct/422437002|https://omim.org/entry/309520|http://identifiers.org/mesh/C537724|Orphanet:776	ordo_malformation_syndrome
MONDO:0010654	biolink:Disease	Partington syndrome	A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.	GARD:0004235|DOID:14744|OMIM:309510|Orphanet:94083	mondo.json	intellectual disability-dystonic movements-ataxia-seizures syndrome|Partington syndrome, X-linked recessive|X-linked Russell-Silver syndrome|MRXS1|PRTS|intellectual disability, X-linked, syndromic 1|mental retardation, X-linked, syndromic 1|intellectual disability, X-linked, with dystonic movements, ataxia, and seizures|Partington X-linked mental retardation syndrome|mental retardation, X-linked, with dystonic movements, ataxia, and seizures|intellectual disability, X-linked 36|Partington X-linked intellectual disability syndrome|X-linked intellectual disability-dystonia-dysarthria syndrome|Partington-Mulley syndrome|Partington syndrome|mental retardation, X-linked 36	http://purl.obolibrary.org/obo/MONDO_0010654	Orphanet:94083|https://omim.org/entry/309510|DOID:14744	ordo_malformation_syndrome
HGNC:32952	biolink:NamedThing	SNORD118			mondo.json		http://identifiers.org/hgnc/32952		
UBERON:0018543	biolink:AnatomicalEntity	lumen of intestine			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018543		
NCIT:C36849	biolink:NamedThing	Neoplastic Epithelial Spindle Cell			mondo.json		http://purl.obolibrary.org/obo/NCIT_C36849		
NCBITaxon:6318	biolink:OrganismalEntity	Trichostrongylus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6318		
NCBITaxon:6315	biolink:OrganismalEntity	Trichostrongylidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6315		
NCBITaxon:8976	biolink:OrganismalEntity	Galliformes		GC_ID:1	mondo.json	landfowls	http://purl.obolibrary.org/obo/NCBITaxon_8976		
NCIT:C36843	biolink:NamedThing	Abnormal Connective and Soft Tissue Cell			mondo.json		http://purl.obolibrary.org/obo/NCIT_C36843		
NCBITaxon:6314	biolink:OrganismalEntity	Trichostrongyloidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6314		
HGNC:29401	biolink:NamedThing	MYSM1			mondo.json		http://identifiers.org/hgnc/29401		
UBERON:0018544	biolink:AnatomicalEntity	trigeminal nerve muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0018544		
HP:0002257	biolink:PhenotypicFeature	Chronic rhinitis	Chronic inflammation of the nasal mucosa.	UMLS:C0008711|SNOMEDCT_US:86094006	mondo.json		http://purl.obolibrary.org/obo/HP_0002257		
UBERON:0006563	biolink:AnatomicalEntity	tunica media of pulmonary trunk			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006563		
UBERON:0006562	biolink:AnatomicalEntity	pharynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006562		
UBERON:0006569	biolink:AnatomicalEntity	diencephalic nucleus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006569		
UBERON:0006568	biolink:AnatomicalEntity	hypothalamic nucleus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006568		
UBERON:0006567	biolink:AnatomicalEntity	right ventricle myocardium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006567		
HP:0002250	biolink:PhenotypicFeature	Abnormal large intestine morphology	Any abnormality of the large intestine.	UMLS:C4025715	mondo.json	Abnormality of the large intestine	http://purl.obolibrary.org/obo/HP_0002250		
RO:0002608	biolink:NamedThing	process has causal agent	Inverse of 'causal agent in process'		mondo.json		http://purl.obolibrary.org/obo/RO_0002608		
UBERON:0006566	biolink:AnatomicalEntity	left ventricle myocardium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006566		
UBERON:0006565	biolink:AnatomicalEntity	female urethral meatus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006565		
NBO:0000747	biolink:NamedThing	jaw movement			mondo.json		http://purl.obolibrary.org/obo/NBO_0000747		
CHEBI:57718	biolink:ChemicalSubstance	barbiturate(2-)	Dianion of barbituric acid arising from deprotonation at the N-1 and C-5 positions.		mondo.json	barbiturate dianion|2,4,6-trioxotetrahydro-2H-pyrimidine-1,5-diide|2,4,6-trioxo-1,3-diazinane-1,5-diide	http://purl.obolibrary.org/obo/CHEBI_57718		
NCBITaxon:6329	biolink:OrganismalEntity	Trichinellida		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6329		
HGNC:29418	biolink:NamedThing	FNIP1			mondo.json		http://identifiers.org/hgnc/29418		
HGNC:29419	biolink:NamedThing	EARS2			mondo.json		http://identifiers.org/hgnc/29419		
CHEBI:33767	biolink:ChemicalSubstance	cobalt group molecular entity			mondo.json	cobalt group molecular entity|cobalt group molecular entities	http://purl.obolibrary.org/obo/CHEBI_33767		
UBERON:0006553	biolink:AnatomicalEntity	renal duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006553		
FOODON:00001248	biolink:NamedThing	fish food product	A fish food product includes products made from any fish species (aquatic vertebrate with gills and fins).		mondo.json		http://purl.obolibrary.org/obo/FOODON_00001248		
HP:0002269	biolink:PhenotypicFeature	Abnormality of neuronal migration	An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.	MSH:D054081|UMLS:C1837249	mondo.json	Neuronal migration disorder|Heterotopias/abnormal migration|Abnormal neuronal migration|Migrational brain disorder	http://purl.obolibrary.org/obo/HP_0002269		
NCBITaxon:6333	biolink:OrganismalEntity	Trichinella		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6333		
NBO:0000751	biolink:NamedThing	perception behavior by means			mondo.json		http://purl.obolibrary.org/obo/NBO_0000751		
NCBITaxon:6334	biolink:OrganismalEntity	Trichinella spiralis		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6334		
UBERON:0006558	biolink:AnatomicalEntity	lymphatic part of lymphoid system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006558		
NCBITaxon:6332	biolink:OrganismalEntity	Trichinellidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6332		
UBERON:0006555	biolink:AnatomicalEntity	excretory tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006555		
CHEBI:18140	biolink:ChemicalSubstance	hydrogen halide			mondo.json	hydrogen halide|hydrogen halides|hydrogen halides|HX	http://purl.obolibrary.org/obo/CHEBI_18140		
NCIT:C36869	biolink:NamedThing	Spindle Melanocyte			mondo.json		http://purl.obolibrary.org/obo/NCIT_C36869		
UBERON:2002162	biolink:AnatomicalEntity	ural vertebra			mondo.json		http://purl.obolibrary.org/obo/UBERON_2002162		
NCBITaxon:2509514	biolink:OrganismalEntity	Tegacovirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2509514		
NCBITaxon:2509511	biolink:OrganismalEntity	Sarbecovirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2509511		
UBERON:0006542	biolink:AnatomicalEntity	outer medulla outer stripe loop of Henle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006542		
FOODON:00001258	biolink:NamedThing	food (fermented)			mondo.json		http://purl.obolibrary.org/obo/FOODON_00001258		
HP:0002239	biolink:PhenotypicFeature	Gastrointestinal hemorrhage	Hemorrhage affecting the gastrointestinal tract.	UMLS:C0017181|SNOMEDCT_US:74474003|MSH:D006471	mondo.json	GI hemorrhage|GI haemorrhage|Gastrointestinal haemorrhage|Gastrointestinal bleeding	http://purl.obolibrary.org/obo/HP_0002239		
FOODON:00001256	biolink:NamedThing	dairy food product	A dairy food product has mammilian milk or a milk component as an ingredient.	http://www.langual.org/langual_thesaurus.asp?termid=H0242	mondo.json	milk product|dairy product	http://purl.obolibrary.org/obo/FOODON_00001256		
FOODON:00001257	biolink:NamedThing	milk or milk based food product			mondo.json		http://purl.obolibrary.org/obo/FOODON_00001257		
NCBITaxon:6300	biolink:OrganismalEntity	Tylenchina		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6300		
NCBITaxon:186537	biolink:OrganismalEntity	Marburgvirus		GC_ID:1	mondo.json	Marburg-like viruses	http://purl.obolibrary.org/obo/NCBITaxon_186537		
NCBITaxon:186536	biolink:OrganismalEntity	Ebolavirus		GC_ID:1	mondo.json	Ebola-like viruses	http://purl.obolibrary.org/obo/NCBITaxon_186536		
NCBITaxon:186538	biolink:OrganismalEntity	Zaire ebolavirus		GC_ID:1	mondo.json	Zaire Ebola virus|ZEBOV	http://purl.obolibrary.org/obo/NCBITaxon_186538		
UBERON:0006544	biolink:AnatomicalEntity	kidney vasculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006544		
NCBITaxon:6308	biolink:OrganismalEntity	Strongylida		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_6308		
CHEBI:33747	biolink:ChemicalSubstance	nickel group molecular entity			mondo.json	nickel group molecular entity|nickel group molecular entities	http://purl.obolibrary.org/obo/CHEBI_33747		
CHEBI:33748	biolink:ChemicalSubstance	nickel molecular entity			mondo.json	nickel molecular entity|nickel molecular entities|nickel compounds	http://purl.obolibrary.org/obo/CHEBI_33748		
FOODON:00001262	biolink:NamedThing	botanical fruit food product	Mature ovary of a plant, with a fleshy part of the carpel that develops with the seed to attract animals for aid in dispersal. Botanically, nuts are considered fruits.		mondo.json		http://purl.obolibrary.org/obo/FOODON_00001262		
UBERON:0006531	biolink:AnatomicalEntity	oculomotor muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006531		
UBERON:0006530	biolink:AnatomicalEntity	seminal fluid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006530		
HP:0002244	biolink:PhenotypicFeature	Abnormality of the small intestine	An abnormality of the small intestine.	UMLS:C4025717	mondo.json		http://purl.obolibrary.org/obo/HP_0002244		
HGNC:17416	biolink:NamedThing	ADGRV1			mondo.json		http://identifiers.org/hgnc/17416		
HP:0002249	biolink:PhenotypicFeature	Melena	The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.	SNOMEDCT_US:249627005|UMLS:C0474585|UMLS:C0025222|SNOMEDCT_US:2901004|MSH:D008551|SNOMEDCT_US:267055007|SNOMEDCT_US:269899009|SNOMEDCT_US:35064005	mondo.json	Black feces|Black faeces	http://purl.obolibrary.org/obo/HP_0002249		
CHEBI:33743	biolink:ChemicalSubstance	manganese group molecular entity			mondo.json	manganese group molecular entity|manganese group molecular entities	http://purl.obolibrary.org/obo/CHEBI_33743		
CHEBI:33744	biolink:ChemicalSubstance	iron group molecular entity			mondo.json	iron group molecular entities|iron group molecular entity	http://purl.obolibrary.org/obo/CHEBI_33744		
HP:0002248	biolink:PhenotypicFeature	Hematemesis	The vomiting of blood.	MSH:D006396|SNOMEDCT_US:8765009|UMLS:C0018926	mondo.json	Vomitting blood	http://purl.obolibrary.org/obo/HP_0002248		
HGNC:17412	biolink:NamedThing	CLCF1			mondo.json		http://identifiers.org/hgnc/17412		
UBERON:0006539	biolink:AnatomicalEntity	mammary gland fluid/secretion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006539		
UBERON:0006538	biolink:AnatomicalEntity	respiratory system fluid/secretion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006538		
UBERON:0006537	biolink:AnatomicalEntity	female reproductive gland secretion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006537		
NCIT:C36862	biolink:NamedThing	Neoplastic Melanocyte			mondo.json		http://purl.obolibrary.org/obo/NCIT_C36862		
UBERON:0006536	biolink:AnatomicalEntity	male reproductive gland secretion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006536		
UBERON:0006535	biolink:AnatomicalEntity	skin secretion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006535		
HP:0002242	biolink:PhenotypicFeature	Abnormal intestine morphology	An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.	MSH:D007410|UMLS:C0021831|SNOMEDCT_US:85919009	mondo.json	Abnormality of the intestine|Enteropathy	http://purl.obolibrary.org/obo/HP_0002242		
UBERON:0006534	biolink:AnatomicalEntity	renal convoluted tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006534		
HP:0002240	biolink:PhenotypicFeature	Hepatomegaly	Abnormally increased size of the liver.	MSH:D006529|SNOMEDCT_US:80515008|UMLS:C0019209	mondo.json	Enlarged liver	http://purl.obolibrary.org/obo/HP_0002240		
UBERON:0006532	biolink:AnatomicalEntity	oblique extraocular muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006532		
MONDO:0010719	biolink:Disease	radiation sensitivity of natural killer activity		UMLS:C1839408|OMIM:312210|MESH:C564066	mondo.json	radiation sensitivity of natural killer activity|X-Ray Nk sensitivity	http://purl.obolibrary.org/obo/MONDO_0010719	https://omim.org/entry/312210|UMLS:C1839408|http://identifiers.org/mesh/C564066	
MONDO:0009729	biolink:Disease	nephropathy - deafness - hyperparathyroidism syndrome	Nephropathy-deafness-hyperparathyroidism syndrome is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive.	OMIM:256120|GARD:0003940|MESH:C536401|SCTID:724093004|UMLS:C1850553|Orphanet:2668	mondo.json	nephropathy - deafness - hyperparathyroidism|Edwards-Patton-Dilly syndrome|Edwards Patton Dilly syndrome|nephropathy, deafness, and hyperparathyroidism	http://purl.obolibrary.org/obo/MONDO_0009729	http://identifiers.org/mesh/C536401|UMLS:C1850553|https://omim.org/entry/256120|http://identifiers.org/snomedct/724093004|Orphanet:2668	ordo_malformation_syndrome|gard_rare
MONDO:0009728	biolink:Disease	nephronophthisis 1	Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure.	SCTID:444830001|MESH:C537699|NCIT:C74998|OMIM:256100|UMLS:C1855681|Orphanet:93592|OMIM:615382|DOID:0111112|UMLS:CN205459	mondo.json	juvenile nephronophthisis|nephronophthisis 1, juvenile|familial juvenile nephronophthisis|nephronophthisis type 1|NPHP1 nephronophthisis (disease)|NPHP1|nephronophthisis, familial juvenile|juvenile nephronophthisis 1|nephronophthisis 1|Nph1|NPH1|nephronophthisis (disease) caused by mutation in NPHP1	http://purl.obolibrary.org/obo/MONDO_0009728	UMLS:C1855681|UMLS:CN205459|NCIT:C74998|http://identifiers.org/snomedct/444830001|Orphanet:93592|https://omim.org/entry/256100|DOID:0111112|http://identifiers.org/mesh/C537699	ordo_clinical_subtype
MONDO:0009727	biolink:Disease	atelosteogenesis type II	A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.	GARD:0008329|ICD9:756.9|UMLS:C1850554|Orphanet:56304|OMIM:256050|MESH:C535395|UMLS:C1850555|SCTID:254055004|ICD10CM:Q77.5	mondo.json	atelosteogenesis type II|De 50A Chapelle dysplasia|neonatal osseous dysplasia 1|neonatal osseous dysplasia type 1|AOII|Aoii|AO2|atelosteogenesis, type 2|atelosteogenesis type 2|De la Chapelle dysplasia|atelosteogenesis, type II|atelosteogenesis II	http://purl.obolibrary.org/obo/MONDO_0009727	http://identifiers.org/mesh/C535395|http://identifiers.org/snomedct/254055004|https://omim.org/entry/256050|UMLS:C1850555|UMLS:C1850554|Orphanet:56304	ordo_malformation_syndrome
MONDO:0009726	biolink:Disease	proteosome-associated autoinflammatory syndrome		DOID:0050553|MESH:C538334|UMLS:CN202195|OMIMPS:256040|GARD:0003917|GARD:0003916|Orphanet:325004|GARD:0010988|GARD:0010811|ICD9:709.8|UMLS:CN204109|Orphanet:2615|SCTID:702449004|Orphanet:324999|Orphanet:324977	mondo.json	chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome|secondary hypertrophic osteoperiostosis with pernio|amyotrophy fat tissue anomaly|proteasome-associated autoinflammatory syndrome|amyotrophy-fat tissue anomaly syndrome|Joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy|nodular erythema digital changes|NNS|Nakajo Nishimura syndrome|proteasome disability syndrome|Nakajo syndrome|chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|autoinflammation-lipodystrophy-dermatosis syndrome|Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome|chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature|Joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy|ALDD|autoinflammation, lipodystrophy, and dermatosis syndrome|PRAAS|JMP syndrome|CANDLE syndrome|ALDD syndrome|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|Nakajo-Nishimura syndrome	http://purl.obolibrary.org/obo/MONDO_0009726	Orphanet:325004|UMLS:CN204109|http://identifiers.org/snomedct/702449004|https://omim.org/phenotypicSeries/PS256040|UMLS:CN202195|Orphanet:324977|Orphanet:324999|http://identifiers.org/mesh/C538334|Orphanet:2615|DOID:0050553	ordo_clinical_subtype|gard_rare|ordo_disease
MONDO:0009725	biolink:Disease	nemaline myopathy 2	An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.	MESH:C538349|NCIT:C118784|UMLS:CN187052|OMIM:256030|UMLS:C1850569|DOID:0110928	mondo.json	nemaline myopathy 2|NEB nemaline myopathy|NEM2|nemaline myopathy caused by mutation in NEB|nemaline myopathy type 2|nemaline myopathy 2, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009725	DOID:0110928|https://omim.org/entry/256030|UMLS:C1850569|http://identifiers.org/mesh/C538349|NCIT:C118784|UMLS:CN187052	
MONDO:0009724	biolink:Disease	nail-patella-like renal disease	A severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency.	GARD:0000321|OMIM:256020|SCTID:236527004|UMLS:C0403548|ICD9:756.89|Orphanet:2613|MESH:C537228	mondo.json	focal segmental glomerulosclerosis 10|nail patella like renal disease|nail-patella-like renal disease|glomerular basement Membrane disease, nail-patella syndrome type|Salcedo syndrome	http://purl.obolibrary.org/obo/MONDO_0009724	UMLS:C0403548|https://omim.org/entry/256020|http://identifiers.org/snomedct/236527004|Orphanet:2613|http://identifiers.org/mesh/C537228	ordo_disease
MONDO:0022700	biolink:Disease	cerebral palsy spastic monoplegic		GARD:0010446	mondo.json	spastic monoplegia cerebral palsy|spastic monoplegic cerebral palsy	http://purl.obolibrary.org/obo/MONDO_0022700		gard_rare
NCIT:C36887	biolink:NamedThing	Neoplastic Connective and Soft Tissue Cell			mondo.json		http://purl.obolibrary.org/obo/NCIT_C36887		
MONDO:0009723	biolink:Disease	Leigh syndrome	A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.	SCTID:29570005|MedDRA:10062950|UMLS:C0023264|ICD9:330.8|MESH:D007888|NCIT:C84814|OMIM:256000|Orphanet:506|GARD:0006877|DOID:3652	mondo.json	Leigh syndrome due to mitochondrial Complex 2 deficiency|Leigh syndrome due to mitochondrial Complex 3 deficiency|subacute necrotizing encephalomyelopathy|Leigh syndrome due to mitochondrial Complex 4 deficiency|Leigh syndrome due to mitochondrial Complex 5 deficiency|necrotizing encephalopathy, infantile Subacute, of Leigh|infantile necrotizing encephalomyelopathy|Leigh's necrotizing encephalopathy|Leigh disease|Leigh's disease|juvenile subacute necrotizing encephalomyelopathy|SNE|LS|subacute necrotizing encephalopathy|Leigh syndrome|infantile subacute necrotizing encephalopathy|Leigh syndrome due to mitochondrial Complex 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0009723	UMLS:C0023264|http://identifiers.org/mesh/D007888|DOID:3652|http://identifiers.org/snomedct/29570005|https://omim.org/entry/256000|NCIT:C84814|Orphanet:506	disease_grouping|ordo_group_of_disorders
MONDO:0010712	biolink:Disease	panhypopituitarism, X-linked		SCTID:237683004|GARD:0006737|DOID:0111779|OMIM:312000|MESH:C538613	mondo.json	pituitary dwarfism IV|PHPX|panhypopituitarism X-linked|pituitary dwarfism IV (formerly)|pituitary dwarfism IV, formerly|panhypopituitarism, X-linked	http://purl.obolibrary.org/obo/MONDO_0010712	http://identifiers.org/mesh/C538613|DOID:0111779|https://omim.org/entry/312000|http://identifiers.org/snomedct/237683004	gard_rare
MONDO:0010711	biolink:Disease	TARP syndrome	A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.	DOID:0111780|Orphanet:2886|UMLS:C1839463|MESH:C536942|GARD:0010089|SCTID:725911008|OMIM:311900	mondo.json	TARPS|Pierre Robin syndrome with congenital heart malformation and clubfoot|tarp syndrome|TARP syndrome, X-linked recessive|talipes equinovarus, atrial septal defect, Robin sequence, and persistence of left Superior vena cava|talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome|Pierre Robin sequence-congenital heart defect-talipes syndrome|Pierre Robin syndrome-congenital heart defect-talipes syndrome|Pierre Robin syndrome - congenital heart defect - talipes|Pierre Robin sequence - congenital heart defect - talipes|talipes equinovarus - atrial septal defect - Robin sequence - persistence of the left superior vena cava	http://purl.obolibrary.org/obo/MONDO_0010711	https://omim.org/entry/311900|Orphanet:2886|UMLS:C1839463|DOID:0111780|http://identifiers.org/mesh/C536942|http://identifiers.org/snomedct/725911008	gard_rare|ordo_malformation_syndrome
MONDO:0009722	biolink:Disease	Bailey-Bloch congenital myopathy	Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.	MESH:C538343|OMIM:255995|GARD:0008432|UMLS:C1850625|DOID:0060346|SCTID:723439002|Orphanet:168572	mondo.json	Native American myopathy|myopathy, congenital, baily-bloch|NAM|congenital myopathy-cleft palate-malignant hyperthermia syndrome|myopathy, congenital, with cleft palate and malignant hyperthermia|congenital myopathy - cleft palate - malignant hyperthermia|STAC3 disorder|congenital myopathy cleft palate and malignant hyperthermia|Bailey-Bloch congenital myopathy	http://purl.obolibrary.org/obo/MONDO_0009722	DOID:0060346|Orphanet:168572|UMLS:C1850625|http://identifiers.org/mesh/C538343|http://identifiers.org/snomedct/723439002|https://omim.org/entry/255995	ordo_malformation_syndrome
MONDO:0010714	biolink:Disease	Pelizaeus-Merzbacher disease	An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.	Orphanet:702|GARD:0004265|NCIT:C75487|UMLS:C0205711|OMIM:312080|MedDRA:10067610|MESH:D020371|SCTID:64855000|DECIPHER:38|DOID:3210	mondo.json	leukodystrophy, hypomyelinating, 1|sudanophilic leukodystrophy, Paelizeus-Merzbacher type|Pelizaeus-Merzbacher disease, X-linked recessive|hypomyelinating leukodystrophy 1|Pelizaeus-Merzbacher brain sclerosis|leukodystrophy, sudanophilic|Sudanophilic leukodystrophy, Paelizeus-Merzbacher type|Pelizaeus Merzbacher brain sclerosis|diffuse familial brain sclerosis|Pelizaeus Merzbacher disease|Pelizaeus-Merzbacher disease|HLD1|PMD	http://purl.obolibrary.org/obo/MONDO_0010714	http://identifiers.org/mesh/D020371|http://identifiers.org/snomedct/64855000|DOID:3210|NCIT:C75487|Orphanet:702|https://omim.org/entry/312080|UMLS:C0205711	gard_rare|ordo_disease
MONDO:0009721	biolink:Disease	Nathalie syndrome	Nathalie syndrome is characterised by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother.	GARD:0003929|Orphanet:2663|MESH:C538342|SCTID:716170005|OMIM:255990|UMLS:C1850626	mondo.json	sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome|deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics|deafness-cataract-skeletal anomalies syndrome|deafness-cataracts-skeletal anomalies syndrome|Nathalie syndrome	http://purl.obolibrary.org/obo/MONDO_0009721	UMLS:C1850626|http://identifiers.org/mesh/C538342|Orphanet:2663|http://identifiers.org/snomedct/716170005|https://omim.org/entry/255990	ordo_malformation_syndrome|gard_rare
MONDO:0010713	biolink:Disease	properdin deficiency, X-linked	A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.	ICD9:279.8|OMIM:312060|MESH:C537241|Orphanet:2966|SCTID:81166004|GARD:0009913|DOID:0111768|GARD:0004513	mondo.json	PFD|complement Factor properdin deficiency|CFPD|properdin P Factor deficiency|properdin deficiency, type 3|properdin deficiency, X-linked|properdin deficiency, type 2|properdin deficiency, type 1|properdin deficiency, X-linked, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0010713	http://identifiers.org/snomedct/81166004|http://identifiers.org/mesh/C537241|Orphanet:2966|DOID:0111768|https://omim.org/entry/312060	ordo_disease
MONDO:0009720	biolink:Disease	Keipert syndrome	A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.	UMLS:C1850627|OMIM:255980|OMIM:301026|Orphanet:2662|SCTID:763774001|GARD:0000267|MESH:C538337	mondo.json	nasodigitoacoustic syndrome, formerly|KPTS|Keipert syndrome|nasodigitoacoustic syndrome|Keipert syndrome, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0009720	UMLS:C1850627|http://identifiers.org/mesh/C538337|Orphanet:2662|http://identifiers.org/snomedct/763774001|https://omim.org/entry/301026	ordo_malformation_syndrome
MONDO:0010716	biolink:Disease	X-linked lethal multiple pterygium syndrome	X-linked form of lethal multiple pterygium syndrome.	GARD:0004573|MESH:C564072|OMIM:312150|SCTID:763462004|Orphanet:79447|UMLS:C1839440	mondo.json	pterygium syndrome, multiple, X-linked|lethal multiple pterygium syndrome, X-linked|multiple pterygium syndrome, X-linked|multiple pterygium syndrome X-linked|pterygium syndrome multiple X-linked	http://purl.obolibrary.org/obo/MONDO_0010716	http://identifiers.org/snomedct/763462004|UMLS:C1839440|http://identifiers.org/mesh/C564072|Orphanet:79447|https://omim.org/entry/312150	gard_rare|ordo_malformation_syndrome
MONDO:0010715	biolink:Disease	obsolete pseudohermaphroditism, incomplete male, type 1			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010715		
MONDO:0010718	biolink:Disease	absent radius-anogenital anomalies syndrome	Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.	OMIM:312190|UMLS:C1839410|MESH:C535281|Orphanet:3016|GARD:0004633	mondo.json	radial aplasia, X-linked|radial aplasia and anogenital anomalies|radius absent anogenital anomalies	http://purl.obolibrary.org/obo/MONDO_0010718	https://omim.org/entry/312190|Orphanet:3016|UMLS:C1839410|http://identifiers.org/mesh/C535281	ordo_malformation_syndrome
MONDO:0010717	biolink:Disease	pyruvate dehydrogenase E1-alpha deficiency	Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.	Orphanet:79243|OMIM:312170|MESH:C564071|ICD9:277.6|SCTID:124593001|GARD:0004620	mondo.json	ataxia with lactic acidosis 1|pyruvate dehydrogenase E1-ALPHA deficiency|ataxia, intermittent, with abnormal pyruvate metabolism|pyruvate decarboxylase deficiency|PDH deficiency|pyruvate dehydrogenase E1-alpha deficiency|PDHAD|ataxia, intermittent, with pyruvate dehydrogenase deficiency|lactic acidemia, thiamine-responsive|pyruvate dehydrogenase Complex deficiency|ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency|pyruvate dehydrogenase e1-alpha deficiency, X-linked dominant|pyruvate dehydrogenase complex E1 component subunit alpha deficiency	http://purl.obolibrary.org/obo/MONDO_0010717	http://identifiers.org/mesh/C564071|Orphanet:79243|https://omim.org/entry/312170|http://identifiers.org/snomedct/124593001	gard_rare|ordo_clinical_subtype
CHEBI:33719	biolink:ChemicalSubstance	alpha-amino-acid cation			mondo.json	alpha-amino acid cations|alpha-amino-acid cations|alpha-amino-acid cation	http://purl.obolibrary.org/obo/CHEBI_33719		
MONDO:0010721	biolink:Disease	reticuloendotheliosis, X-linked		MESH:C538362|OMIM:312500|GARD:0007559|UMLS:C0035288	mondo.json	reticuloendotheliosis|reticuloendotheliosis, X-linked	http://purl.obolibrary.org/obo/MONDO_0010721	http://identifiers.org/mesh/C538362|UMLS:C0035288|https://omim.org/entry/312500	
CHEBI:33710	biolink:ChemicalSubstance	alpha-amino-acid residue			mondo.json	alpha-amino-acid residues	http://purl.obolibrary.org/obo/CHEBI_33710		
MONDO:0010720	biolink:Disease	partial androgen insensitivity syndrome	Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.	GTR:AN0098655|GTR:AN0098654|GTR:AN0098652|OMIM:312300|GTR:AN0098651|SCTID:122811000119101|GTR:AN0098650|OMIM:312100|NCIT:C120192|Orphanet:90797|MESH:C538435|UMLS:CN035075|OMIM:307300|GTR:AN0098649|GARD:0005692|ICD10CM:E34.52	mondo.json	androgen insensitivity, partial, with or without breast cancer, X-linked recessive|incomplete male pseudohermaphroditism|Reifenstein syndrome, partial|pseudohermaphroditism, incomplete male, type I|Reifenstein syndrome|androgen insensitivity, partial|familial incomplete Male pseudohermaphroditism, type 1|androgen resistance syndrome, partial|PAIS|androgen insensitivity syndrome, partial|partial androgen resistance syndrome|androgen insensitivity, partial, with or without breast cancer|type I familial incomplete male pseudohermaphroditism|pais	http://purl.obolibrary.org/obo/MONDO_0010720	http://identifiers.org/mesh/C538435|NCIT:C120192|Orphanet:90797|https://omim.org/entry/312100|http://identifiers.org/snomedct/122811000119101|UMLS:CN035075|https://omim.org/entry/312300|https://omim.org/entry/307300|http://purl.bioontology.org/ontology/ICD10CM/E34.52	ordo_disease|gard_rare
HP:0100606	biolink:PhenotypicFeature	Neoplasm of the respiratory system	A tumor (abnormal growth of tissue) of the respiratory system.	SNOMEDCT_US:126667002|MSH:D012142|UMLS:C0035244|SNOMEDCT_US:448708002|NCIT:C3262	mondo.json	Respiratory system tumor|Respiratory system tumour	http://purl.obolibrary.org/obo/HP_0100606		
HP:0100603	biolink:PhenotypicFeature	Toxemia of pregnancy	Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia.	SNOMEDCT_US:15394000|UMLS:C0032914|SNOMEDCT_US:398254007|MSH:D011225	mondo.json	Hypertensive disorder of pregnancy|Toxaemia of pregnancy	http://purl.obolibrary.org/obo/HP_0100603		
MONDO:0010709	biolink:Disease	early-onset parkinsonism-intellectual disability syndrome	A basal ganglia disorder characterised by Parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.	SCTID:716107009|UMLS:C0796195|MESH:C537179|Orphanet:2379|DOID:0111781|OMIM:311510|GARD:0003203	mondo.json	X-linked recessive basal ganglia disorder with intellectual disability|basal ganglia disorder with intellectual disability|early-onset parkinsonism-intellectual disability syndrome|WAISMAN syndrome|Parkinsonism, early onset with intellectual disability|WSMN|basal ganglion disorder with mental retardation|Waisman syndrome|basal ganglion disorder with intellectual disability|Wsn|Parkinsonism, early onset with mental retardation|Laxova-Opitz syndrome|BGMR|basal ganglia disorder with mental retardation|X-linked recessive basal ganglia disorder with mental retardation|Waisman syndrome, X-linked recessive|Laxova Brown hogan syndrome|Parkinsonism, early-onset, with intellectual disability|Parkinsonism, early-onset, with mental retardation	http://purl.obolibrary.org/obo/MONDO_0010709	https://omim.org/entry/311510|UMLS:C0796195|Orphanet:2379|http://identifiers.org/mesh/C537179|http://identifiers.org/snomedct/716107009|DOID:0111781	ordo_disease
MONDO:0010708	biolink:Disease	Pallister-W syndrome	A syndrome characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant.	SCTID:719020006|UMLS:C0796110|Orphanet:2804|GARD:0000358|OMIM:311450|MESH:C538106	mondo.json	median cleft upper lip, intellectual disability and pugilistic facies|W syndrome|Pallister-W syndrome|median cleft upper lip, mental retardation and pugilistic facies|Pallister W syndrome	http://purl.obolibrary.org/obo/MONDO_0010708	http://identifiers.org/snomedct/719020006|https://omim.org/entry/311450|UMLS:C0796110|http://identifiers.org/mesh/C538106|Orphanet:2804	ordo_malformation_syndrome
MONDO:0009739	biolink:Disease	obsolete infantile neuroaxonal dystrophy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009739		
MONDO:0009738	biolink:Disease	sialidosis type 2	A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.	DOID:3343|UMLS:C0268232|MESH:C562606|SCTID:52186006|SCTID:70528007|NCIT:C61267|UMLS:CN206285|OMIM:256150|Orphanet:87876|UMLS:C3888317|GARD:0007183|NCIT:C125596|OMIM:256550|Orphanet:812|UMLS:C0026697|UMLS:C0023806|SCTID:81896006	mondo.json	sialidosis|neuraminidase deficiency|sialidosis, type II|ML1|Neu1 deficiency|neuraminidase 1 deficiency|mucolipidosis I|glycoprotein neuraminidase deficiency|glycoproteinosis|sialidosis type II|mucolipidosis type I|myoclonus--cherry Red spot syndrome|sialidase deficiency|nephrosialidosis|mucolipidosis type 1|Neug deficiency|cherry Red spot--myoclonus syndrome|ML 1|sialidosis, type 2|dysmorphic sialidosis|NEU1 sialidosis|Neu deficiency|dysmorphic sialidosis with renal involvement|sialidosis caused by mutation in NEU1|sialidosis, type 1|mucolipidosis 1|lipomucopolysaccharidosis|NEU 1 deficiency|sialidosis, type I|infantile dysmorphic sialidosis	http://purl.obolibrary.org/obo/MONDO_0009738	DOID:3343|UMLS:CN206285|NCIT:C125596|http://identifiers.org/snomedct/81896006|http://identifiers.org/mesh/C562606|http://identifiers.org/snomedct/52186006|UMLS:C0268232|https://omim.org/entry/256150|https://omim.org/entry/256550|UMLS:C3888317|Orphanet:87876	ordo_disease
MONDO:0009737	biolink:Disease	galactosialidosis	A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.	MESH:C536411|NCIT:C129928|UMLS:C0268233|ICD9:277.6|OMIM:256540|Orphanet:351|GARD:0003953|SCTID:35691006|DOID:0080540	mondo.json	neuraminidase/Beta-galactosidase expression|lysosomal protective Protein deficiency|neuraminidase deficiency with beta-galactosidase deficiency|GSL|protective Protein/Cathepsin a deficiency|cathepsin A deficiency|PPCA deficiency|cathepsin A deficiency of|galactosialidosis|Goldberg syndrome|lysosomal protective protein deficiency of	http://purl.obolibrary.org/obo/MONDO_0009737	UMLS:C0268233|https://omim.org/entry/256540|DOID:0080540|Orphanet:351|NCIT:C129928|http://identifiers.org/mesh/C536411|http://identifiers.org/snomedct/35691006	ordo_disease|gard_rare
MONDO:0009736	biolink:Disease	Neu-Laxova syndrome 1	Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.	DOID:0080076|Orphanet:583607|UMLS:CN032230|OMIM:256520|OMIM:616038	mondo.json	3-Phosphoglycerate dehydrogenase deficiency, neonatal form|PHGDH Neu-Laxova syndrome|Neu-Laxova syndrome type 1|3-phosphoglycerate dehydrogenase deficiency, prenatal form|Neu-Laxova syndrome caused by mutation in PHGDH|NLS1|Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency|Neu-Laxova syndrome|Neu-Laxova syndrome 1	http://purl.obolibrary.org/obo/MONDO_0009736	Orphanet:583607|UMLS:CN032230|https://omim.org/entry/256520|DOID:0080076	
MONDO:0009735	biolink:Disease	Netherton syndrome	Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.	DOID:0050474|OMIM:256500|Orphanet:634|MedDRA:10062909|SCTID:312514006|MESH:D056770|GARD:0007182|SCTID:54336006|NCIT:C84922	mondo.json	Comèl-Netherton syndrome|Netherton disease|Netherton syndrome|neth|NS|bamboo hair syndrome|Comel-Netherton syndrome|erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE	http://purl.obolibrary.org/obo/MONDO_0009735	http://identifiers.org/snomedct/312514006|NCIT:C84922|https://omim.org/entry/256500|http://identifiers.org/mesh/D056770|Orphanet:634|DOID:0050474	ordo_disease|gard_rare
MONDO:0009734	biolink:Disease	hyperinsulinemic hypoglycemia, familial, 1	Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene.	SCTID:360339005|DOID:0070219|UMLS:C2931833|Orphanet:276575|OMIM:256450	mondo.json	ABCC8 hyperinsulinemic hypoglycemia (disease)|hypoglycemia, hyperinsulinemic, of infancy|hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia|Nesidioblastosis of pancreas|hyperinsulinism, congenital|hyperinsulinemic hypoglycemia, familial, 1|hyperinsulinemic hypoglycemia (disease) caused by mutation in ABCC8|hyperinsulinemic hypoglycemia, familial, type 1|HHF1|hyperinsulinemic hypoglycemia due to SUR1 deficiency|hyperinsulinism, familial, with pancreatic Nesidioblastosis|persistent hyperinsulinemic hypoglycemia of infancy	http://purl.obolibrary.org/obo/MONDO_0009734	DOID:0070219|https://omim.org/entry/256450|http://identifiers.org/snomedct/360339005	
MONDO:0010701	biolink:Disease	obsolete opticoacoustic nerve atrophy with dementia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0010701		
MONDO:0010700	biolink:Disease	optic atrophy--spastic paraplegia syndrome		MESH:C564084|UMLS:C1839565|OMIM:311100	mondo.json	optic atrophy--spastic paraplegia syndrome	http://purl.obolibrary.org/obo/MONDO_0010700	https://omim.org/entry/311100|UMLS:C1839565|http://identifiers.org/mesh/C564084	
MONDO:0009733	biolink:Disease	nephrotic syndrome, type 4	Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis.	OMIM:256370|UMLS:C3151568|NCIT:C121198|GARD:0003547|DOID:0080383	mondo.json	nephrotic syndrome caused by mutation in WT1|diffuse isolated mesangial sclerosis|NPHS4|mesangial sclerosis, diffuse|nephrotic syndrome, early onset with diffuse mesangial sclerosis|WT1 nephrotic syndrome|DMS|diffuse mesangial sclerosis|familial mesangial sclerosis|congenital nephrotic syndrome - diffuse mesangial sclerosis|isolated diffuse mesangial sclerosis|nephrotic syndrome, type 4	http://purl.obolibrary.org/obo/MONDO_0009733	https://omim.org/entry/256370|NCIT:C121198|DOID:0080383	clingen
MONDO:0010703	biolink:Disease	ornithine carbamoyltransferase deficiency	Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.	Orphanet:664|NCIT:C84957|MESH:D020163|EFO:0007409|UMLS:C0268542|MedDRA:10052450|OMIM:311250|GARD:0008391|DOID:9271|SCTID:80908008	mondo.json	OCT deficiency|OTC deficiency|OTCD|deficiency of citrulline phosphorylase|ornithine transcarbamylase deficiency|ornithine carbamoyltransferase deficiency|ornithine transcarbamylase deficiency, hyperammonemia due to|valproate sensitivity|ornithine carbamoyltransferase deficiency disease	http://purl.obolibrary.org/obo/MONDO_0010703	DOID:9271|http://identifiers.org/mesh/D020163|https://omim.org/entry/311250|NCIT:C84957|UMLS:C0268542|http://identifiers.org/snomedct/80908008|Orphanet:664	ordo_disease|clingen
MONDO:0009732	biolink:Disease	congenital nephrotic syndrome, Finnish type	Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life.	SCTID:197601003|MedDRA:10060740|NCIT:C122795|OMIM:256300|UMLS:C0403399|GARD:0001500|Orphanet:839	mondo.json	congenital nephrotic syndrome Finnish type|nephrosis 1, congenital, Finnish type|congenital nephrotic syndrome 1|Finnish congenital nephrosis|CnF|nephrosis, congenital|congenital nephrotic syndrome - Finnish type|NPHS1|congenital nephrotic syndrome, Finnish type|nephrotic syndrome, type 1|nephrotic syndrome - NPHS1 associated|nephrotic syndrome, congenital	http://purl.obolibrary.org/obo/MONDO_0009732	http://identifiers.org/snomedct/197601003|https://omim.org/entry/256300|NCIT:C122795|Orphanet:839|UMLS:C0403399	clingen|gard_rare|ordo_disease
MONDO:0010702	biolink:Disease	orofaciodigital syndrome I	A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.	UMLS:C2698658|OMIM:311200|UMLS:C1510460|GARD:0004121|DOID:0060316|Orphanet:2750|SCTID:763833006|SCTID:1779005|NCIT:C75481|MESH:C537134	mondo.json	OFDI|orofaciodigital syndrome i, X-linked dominant|OFD syndrome 1|Papillon-Leage-Psaume syndrome|orofaciodigital syndrome I|Papillon-Leage and Psaume syndrome|oral-facial-digital syndrome, type 1|orofaciodigital syndrome 1|oral facial digital syndrome type 1|orofaciodigital syndrome type I|Papillon-Léage-Psaume syndrome|OFDS 1|oral facial digital syndrome 1|oral-facial-digital syndrome 1|OFDSI|OFD1|oral-facial-digital syndrome type 1|Papillon-league-Psaume syndrome (formerly)|orofaciodigital syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0010702	https://omim.org/entry/311200|http://identifiers.org/mesh/C537134|Orphanet:2750|NCIT:C75481|http://identifiers.org/snomedct/763833006|DOID:0060316|UMLS:C1510460	ordo_malformation_syndrome
MONDO:0009731	biolink:Disease	nephrosis-deafness-urinary tract-digital malformations syndrome	Nephrosis-deafness-urinary tract-digital malformations syndrome is characterised by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant.	UMLS:C1850552|OMIM:256200|GARD:0003943|MESH:C536402|Orphanet:2669	mondo.json	nephrosis with deafness and urinary tract and digital malformations|Braun-Bayer syndrome|nephrosis deafness urinary tract digital malformation	http://purl.obolibrary.org/obo/MONDO_0009731	UMLS:C1850552|https://omim.org/entry/256200|Orphanet:2669|http://identifiers.org/mesh/C536402	ordo_malformation_syndrome
MONDO:0010705	biolink:Disease	obsolete ouabain resistance		OMIM:311350	mondo.json	OUBR|ouabain resistance	http://purl.obolibrary.org/obo/MONDO_0010705	https://omim.org/entry/311350	
MONDO:0009730	biolink:Disease	obsolete nephrosialidosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0009730		
MONDO:0010704	biolink:Disease	otopalatodigital syndrome type 1	The mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.	Orphanet:90650|GARD:0005121|DOID:0111783|ICD9:759.89|NCIT:C118845|OMIM:311300|SCTID:54036001	mondo.json	Taybi syndrome|OPD 1 syndrome|otopalatodigital syndrome, type I, X-linked dominant|otopalatodigital spectrum disorder|otopalatodigital syndrome, type I|OPD I syndrome|OPD syndrome|oto-palato-digital syndrome type 1|OPD1|otopalatodigital syndrome, type 1|OPD syndrome 1|frontootopalatodigital osteodysplasia	http://purl.obolibrary.org/obo/MONDO_0010704	https://omim.org/entry/311300|http://identifiers.org/snomedct/54036001|NCIT:C118845|Orphanet:90650|DOID:0111783	ordo_clinical_subtype
NCBITaxon:451507	biolink:OrganismalEntity	Mucoromycotina		PMID:17572334|PMID:17051209|GC_ID:1|PMID:17010206|PMID:14715234|PMID:27738200	mondo.json	Zygomycota	http://purl.obolibrary.org/obo/NCBITaxon_451507		
MONDO:0010707	biolink:Disease	Paine syndrome		MESH:C538101|OMIM:311400|GARD:0009780|UMLS:C1412041	mondo.json	Paine syndrome|microcephaly with spastic diplegia|Seemanova syndrome 1	http://purl.obolibrary.org/obo/MONDO_0010707	https://omim.org/entry/311400|UMLS:C1412041|http://identifiers.org/mesh/C538101	gard_rare
MONDO:0010706	biolink:Disease	premature ovarian failure 1	Any primary ovarian failure in which the cause of the disease is a mutation in the FMR1 gene.	GARD:0004480|ICD9:256.39|OMIM:311360	mondo.json	premature ovarian failure type 1|FMR1-related premature ovarian failure|familial premature ovarian failure|fragile X-associated primary ovarian insufficiency|idiopathic familial premature ovarian failure|ovarian failure, premature|primary ovarian failure caused by mutation in FMR1|premature ovarian failure, X-linked|hypergonadotropic ovarian failure, X-linked|Pof1|FMR1-related primary ovarian insufficiency|premature ovarian failure 1|FMR1 primary ovarian failure	http://purl.obolibrary.org/obo/MONDO_0010706	https://omim.org/entry/311360	
UBERON:0006596	biolink:AnatomicalEntity	presumptive blood			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006596		
NCBITaxon:186540	biolink:OrganismalEntity	Sudan ebolavirus		GC_ID:1	mondo.json	SEBOV|SUDV|Ebolavirus Sudan|Sudan Ebola virus	http://purl.obolibrary.org/obo/NCBITaxon_186540		
UBERON:0006595	biolink:AnatomicalEntity	presumptive endoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006595		
CHEBI:33720	biolink:ChemicalSubstance	carbohydrate acid			mondo.json	carbohydrate acid|carbohydrate acids	http://purl.obolibrary.org/obo/CHEBI_33720		
UBERON:0006592	biolink:AnatomicalEntity	transformed vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006592		
MONDO:0010710	biolink:Disease	Pierre Robin syndrome-faciodigital anomaly syndrome	This syndrome is characterised by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal.	MESH:C535926|OMIM:311895|Orphanet:2888|SCTID:723461007|GARD:0001274|UMLS:C2931064	mondo.json	Robin sequence with facial and digital anomalies|Chitayat-Meunier-Hodgkinson syndrome|Chitayat Meunier Hodgkinson syndrome|Pierre Robin sequence-faciodigital anomaly syndrome|Pierre Robin syndrome, faciodigital anomaly|Pierre Robin sequence with facial and digital anomalies	http://purl.obolibrary.org/obo/MONDO_0010710	https://omim.org/entry/311895|http://identifiers.org/snomedct/723461007|Orphanet:2888|UMLS:C2931064|http://identifiers.org/mesh/C535926	ordo_malformation_syndrome|gard_rare
CHEBI:33721	biolink:ChemicalSubstance	carbohydrate acid anion			mondo.json	carbohydrate acid anions|carbohydrate acid anion	http://purl.obolibrary.org/obo/CHEBI_33721		
UBERON:0006591	biolink:AnatomicalEntity	transformed artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006591		
UBERON:0006590	biolink:AnatomicalEntity	remnant of embryonic structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006590		
UBERON:0006598	biolink:AnatomicalEntity	presumptive structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006598		
MONDO:0009709	biolink:Disease	myopathy, centronuclear, 2	Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene.	OMIM:255200|MESH:C562934|DOID:0111220	mondo.json	centronuclear myopathy 2|centronuclear myopathy caused by mutation in BIN1|BIN1 centronuclear myopathy|CNM2|myopathy, centronuclear, type 2|myopathy, centronuclear, 2|myotubular myopathy, autosomal recessive|myopathy, centronuclear, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009709	https://omim.org/entry/255200|DOID:0111220|http://identifiers.org/mesh/C562934	
MONDO:0009708	biolink:Disease	myopathy, myosin storage, autosomal recessive		MESH:C564970|UMLS:C1850709|OMIM:255160|DOID:0111268	mondo.json	myopathy, myosin storage, autosomal recessive|MSMB|myopathy, hyaline body, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009708	UMLS:C1850709|https://omim.org/entry/255160|DOID:0111268|http://identifiers.org/mesh/C564970	
MONDO:0009707	biolink:Disease	myopathy with giant abnormal mitochondria		MESH:C564971|OMIM:255140|UMLS:C1850717	mondo.json	myopathy with giant abnormal mitochondria	http://purl.obolibrary.org/obo/MONDO_0009707	http://identifiers.org/mesh/C564971|https://omim.org/entry/255140|UMLS:C1850717	
MONDO:0009706	biolink:Disease	hereditary myopathy with lactic acidosis due to ISCU deficiency	Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.	Orphanet:43115|MESH:C564972|UMLS:C1850718|ICD9:259.8|OMIM:255125|SCTID:699268002	mondo.json	HML|myopathy with deficiency of succinate dehydrogenase and aconitase|aconitase deficiency|myopathy with exercise intolerance, Swedish type|iron-sulfur cluster deficiency myopathy|myoglobinuria due to abnormal glycolysis|myopathy with lactic acidosis, hereditary|ISCU myopathy	http://purl.obolibrary.org/obo/MONDO_0009706	http://identifiers.org/snomedct/699268002|Orphanet:43115|http://identifiers.org/mesh/C564972|UMLS:C1850718|https://omim.org/entry/255125	ordo_disease
MONDO:0009705	biolink:Disease	carnitine palmitoyl transferase 1A deficiency	Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.	UMLS:C1829703|HGNC:2328|MESH:C535588|ICD9:277.85|GARD:0001120|OMIM:255120|SCTID:238001003|DOID:0090129|NCIT:C98871|Orphanet:156	mondo.json	disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A|L-CPTI deficiency|hepatic carnitine palmitoyl transferase I deficiency|CPT deficiency, hepatic, type 1|L-CPT 1 deficiency|Carnitine palmitoyltransferase 1A deficiency|carnitine palmitoyl transferase IA deficiency|CPT I deficiency|cpt deficiency, hepatic, type IA|hepatic carnitine palmitoyltransferase 1 deficiency|Carnitine palmitoyl transferase 1 deficiency|Carnitine palmitoyl transferase IA deficiency|L-CPT1 deficiency|CPT1A deficiency|hepatic carnitine palmitoyl transferase 1 deficiency|CPT 1 deficiency|Carnitine Palmitoyltransferase 1A deficiency|Carnitine Palmitoyltransferase 1 deficiency|hepatic CPT1|CPT1A disorder of carnitine cycle and carnitine transport|hepatic CPT deficiency type I|carnitine palmitoyl transferase 1A deficiency|carnitine palmitoyltransferase I deficiency	http://purl.obolibrary.org/obo/MONDO_0009705	Orphanet:156|http://identifiers.org/snomedct/238001003|DOID:0090129|http://identifiers.org/mesh/C535588|NCIT:C98871|UMLS:C1829703|https://omim.org/entry/255120	ordo_disease|gard_rare|clingen
MONDO:0009704	biolink:Disease	carnitine palmitoyl transferase II deficiency, myopathic form	The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency.	OMIM:255110|MESH:C563461|UMLS:C1833508|Orphanet:228302	mondo.json	CPTII, adult-onset form|CPTII, myopathic form|Carnitine Palmitoyltransferase 2 deficiency, myopathic, stress-induced|CARNITINE PALMITOYLTRANSFERASE II deficiency, myopathic, stress-induced|Carnitine palmitoyl transferase II deficiency, adult-onset form|CARNITINE PALMITOYLTRANSFERASE II deficiency, late-onset|carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine Palmitoyltransferase 2 deficiency, myopathic|CPT 2 deficiency, myopathic|Cpt2 deficiency, late-onset|CPT2, adult-onset form|Carnitine Palmitoyltransferase 2 deficiency, adult-onset|Carnitine palmitoyl transferase deficiency type 2, adult-onset form|CPT II deficiency, myopathic, stress-induced|CPT2, myopathic form|Carnitine palmitoyl transferase deficiency type 2, myopathic form	http://purl.obolibrary.org/obo/MONDO_0009704	http://identifiers.org/mesh/C563461|Orphanet:228302|UMLS:C1833508|https://omim.org/entry/255110	ordo_clinical_subtype
MONDO:0009703	biolink:Disease	myopathy with abnormal lipid metabolism		OMIM:255100|MESH:C562935	mondo.json	lipid storage myopathy|LSMFLAD|lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency|LIPID storage myopathy due to flavin adenine dinucleotide synthetase deficiency|myopathy with abnormal lipid metabolism	http://purl.obolibrary.org/obo/MONDO_0009703	http://identifiers.org/mesh/C562935|https://omim.org/entry/255100	
MONDO:0009702	biolink:Disease	myopathy due to malate-aspartate shuttle defect		UMLS:C1850744|OMIM:254960|MESH:C564973	mondo.json	myopathy due to malate-aspartate shuttle defect	http://purl.obolibrary.org/obo/MONDO_0009702	https://omim.org/entry/254960|http://identifiers.org/mesh/C564973|UMLS:C1850744	
MONDO:0009701	biolink:Disease	myopathy, granulovacuolar lobular, with electrical myotonia		UMLS:C1850745|OMIM:254950|MESH:C564974	mondo.json	myopathy, granulovacuolar lobular, with electrical myotonia	http://purl.obolibrary.org/obo/MONDO_0009701	https://omim.org/entry/254950|http://identifiers.org/mesh/C564974|UMLS:C1850745	
MONDO:0009700	biolink:Disease	Carey-Fineman-Ziter syndrome	Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.	MESH:C536102|UMLS:C1850746|DOID:0080194|ICD9:359.89|OMIM:254940|Orphanet:1358|SCTID:429753001|GARD:0003889	mondo.json	Carey-Fineman-Ziter syndrome|congenital nonprogressive myopathy with Moebius and Robin sequences|Carey Fineman Ziter syndrome|CFZ syndrome|myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence|Moebius sequence, Robin complex, and hypotonia|CFZS|myopathy-Moebius-Robin syndrome|myopathy, congenital nonprogressive with Moebius and Robin sequences	http://purl.obolibrary.org/obo/MONDO_0009700	http://identifiers.org/snomedct/429753001|https://omim.org/entry/254940|UMLS:C1850746|DOID:0080194|Orphanet:1358|http://identifiers.org/mesh/C536102	gard_rare|ordo_malformation_syndrome
FOODON:00001293	biolink:NamedThing	shellfish food product			mondo.json		http://purl.obolibrary.org/obo/FOODON_00001293		
HGNC:4795	biolink:NamedThing	H6PD			mondo.json		http://identifiers.org/hgnc/4795		
UBERON:0006585	biolink:AnatomicalEntity	vestibular organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006585		
HGNC:4796	biolink:NamedThing	HAAO			mondo.json		http://identifiers.org/hgnc/4796		
HGNC:4798	biolink:NamedThing	HABP2			mondo.json		http://identifiers.org/hgnc/4798		
HGNC:4799	biolink:NamedThing	HADH			mondo.json		http://identifiers.org/hgnc/4799		
HP:0002270	biolink:PhenotypicFeature	Abnormality of the autonomic nervous system	An abnormality of the autonomic nervous system.	UMLS:C4025714	mondo.json		http://purl.obolibrary.org/obo/HP_0002270		
NCBITaxon:6340	biolink:OrganismalEntity	Annelida		GC_ID:1	mondo.json	segmented worms|annelid worms	http://purl.obolibrary.org/obo/NCBITaxon_6340		
HGNC:2135	biolink:NamedThing	SBF2			mondo.json		http://identifiers.org/hgnc/2135		
UBERON:0006589	biolink:AnatomicalEntity	round ligament of uterus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006589		
CHEBI:33709	biolink:ChemicalSubstance	amino acid	A carboxylic acid containing one or more amino groups.		mondo.json	amino acids|Aminokarbonsaeure|Aminosaeure|Aminocarbonsaeure	http://purl.obolibrary.org/obo/CHEBI_33709		
MONDO:0009719	biolink:Disease	familial atrial myxoma		SCTID:233855002|UMLS:C1850635|Orphanet:615|ICD10CM:D15.1|MESH:C538262|GARD:0000139|OMIM:255960	mondo.json	intracardiac myxoma|MYXOMA, intracardiac|atrial Myxoma, familial	http://purl.obolibrary.org/obo/MONDO_0009719	https://omim.org/entry/255960|Orphanet:615|http://identifiers.org/mesh/C538262|UMLS:C1850635|http://identifiers.org/snomedct/233855002	ordo_disease|gard_rare
MONDO:0009718	biolink:Disease	myxedema	A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance.	DOID:11634|OMIM:255900|NCIT:C34834|EFO:1001055|MedDRA:10028663|UMLS:C0027145|MESH:D009230|SCTID:43153006	mondo.json	myxedema	http://purl.obolibrary.org/obo/MONDO_0009718	https://omim.org/entry/255900|NCIT:C34834|DOID:11634|UMLS:C0027145|http://identifiers.org/snomedct/43153006|http://identifiers.org/mesh/D009230	
MONDO:0009717	biolink:Disease	Schwartz-Jampel syndrome	A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia).	Orphanet:800|SCTID:29145002|UMLS:C0036391|NCIT:C35008|ICD9:759.89|GARD:0000250	mondo.json	Schwartz-Jampel-Aberfeld syndrome|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and Facial abnormalities|Osteochondromuscular dystrophy|SJS|burton syndrome|osteochondromuscular dystrophy|myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities|Aberfeld syndrome|dysostosis enchondralis metaepiphysaria, Catel-Hempel type|myotonic chondrodystrophy|Catel-Hempel syndrome|Schwartz-Jampel syndrome|burton skeletal dysplasia|myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies|Schwartz Jampel Aberfeld syndrome|Schwartz Jampel syndrome|Catel-Hempel type dysostosis enchondralis metaepiphysaria	http://purl.obolibrary.org/obo/MONDO_0009717	UMLS:C0036391|Orphanet:800|http://identifiers.org/snomedct/29145002|NCIT:C35008	prototype_pattern|ordo_disease
MONDO:0009716	biolink:Disease	Richieri Costa-da Silva syndrome		Orphanet:3101|MESH:C535675|UMLS:C2930978|GARD:0004709|OMIM:255710	mondo.json	myotonia-intellectual disability-skeletal anomalies syndrome|myotonia with skeletal abnormalities and mental retardation|Richieri Costa Da Silva syndrome|myotonia with skeletal abnormalities and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0009716	https://omim.org/entry/255710|http://identifiers.org/mesh/C535675|Orphanet:3101|UMLS:C2930978	ordo_malformation_syndrome|gard_rare
MONDO:0009715	biolink:Disease	myotonia congenita, autosomal recessive	Autosomal recessive form of myotonia congenita.	UMLS:C0751360|OMIM:255700	mondo.json	autosomal recessive myotonia congenita|myotonia, generalized|myotonia congenita, recessive|Becker disease|myotonia congenita, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009715	UMLS:C0751360|https://omim.org/entry/255700	
MONDO:0009714	biolink:Disease	myosclerosis	Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.	SCTID:763895001|Orphanet:289380|MESH:C564968|OMIM:255600|MedDRA:10064584	mondo.json	congenital myosclerosis, Löwenthal type|congenital myosclerosis, LC6wenthal type|myopathy, myosclerotic|myosclerosis, autosomal recessive|myosclerosis, congenital, of Lowenthal|myosclerosis, congenital	http://purl.obolibrary.org/obo/MONDO_0009714	http://identifiers.org/mesh/C564968|Orphanet:289380|http://identifiers.org/snomedct/763895001|https://omim.org/entry/255600	ordo_disease
MONDO:0009713	biolink:Disease	myopia 18, autosomal recessive		UMLS:C2749509|MESH:C567606|OMIM:255500	mondo.json	MYP18|myopia 18, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009713	https://omim.org/entry/255500|http://identifiers.org/mesh/C567606|UMLS:C2749509	
MONDO:0009712	biolink:Disease	congenital multicore myopathy with external ophthalmoplegia	An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as "minicores" on ATPase staining as a result of focal defects in oxidative activity.	Orphanet:98905|UMLS:C1850674|NCIT:C150608|GARD:0010316|OMIM:255320	mondo.json	multicore myopathy|multicore myopathy with external ophthalmoplegia|minicore myopathy with external ophthalmoplegia|multiminicore disease with external ophthalmoplegia|minicore myopathy, antenatal onset, with arthrogryposis|minicore myopathy|multiminicore myopathy multicore myopathy with external ophthalmoplegia	http://purl.obolibrary.org/obo/MONDO_0009712	Orphanet:98905|UMLS:C1850674|https://omim.org/entry/255320|NCIT:C150608	ordo_clinical_subtype
MONDO:0009711	biolink:Disease	congenital fiber-type disproportion myopathy	A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur.	UMLS:C0546264|OMIM:255310|NCIT:C120046|GARD:0006161|DOID:0080102|Orphanet:2020	mondo.json	congenital myopathy with fibre type disproportion|CFTD|myopathy, congenital with fiber-type disproportion|fiber-type disproportion myopathy, congenital|congenital fiber type disproportion|congenital fiber-type disproportion|congenital myopathy with fiber type disproportion|CFTDM|myopathy, congenital, with fiber-type disproportion 1|myopathy, congenital, with fiber-type disproportion	http://purl.obolibrary.org/obo/MONDO_0009711	UMLS:C0546264|Orphanet:2020|NCIT:C120046|DOID:0080102|https://omim.org/entry/255310	ordo_disease
CHEBI:33702	biolink:ChemicalSubstance	polyatomic cation	A cation consisting of more than one atom.		mondo.json	polyatomic cations	http://purl.obolibrary.org/obo/CHEBI_33702		
MONDO:0009710	biolink:Disease	Thomsen and Becker disease	A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).	MedDRA:10028655|OMIM:255300|MedDRA:10043461|Orphanet:614|MESH:D009224|NCIT:C84912|ICD9:359.22|DOID:2106|SCTID:726051002|UMLS:C0027127|GARD:0012301|ICD10CM:G71.12	mondo.json	myopathy, congenital|myotonia congenita|Batten-Turner congenital myopathy	http://purl.obolibrary.org/obo/MONDO_0009710	DOID:2106|NCIT:C84912|UMLS:C0027127|http://identifiers.org/mesh/D009224|http://purl.bioontology.org/ontology/ICD10CM/G71.12|http://identifiers.org/snomedct/726051002|Orphanet:614	ordo_disease
CHEBI:33703	biolink:ChemicalSubstance	amino-acid cation			mondo.json	amino acid cation|amino-acid cations|amino-acid cation	http://purl.obolibrary.org/obo/CHEBI_33703		
CHEBI:33704	biolink:ChemicalSubstance	alpha-amino acid	An amino acid in which the amino group is located on the carbon atom at the position alpha to the carboxy group.		mondo.json	alpha-amino acids|Amino acids|alpha-amino acid|Amino acid|alpha-amino carboxylic acids	http://purl.obolibrary.org/obo/CHEBI_33704		
NCBITaxon:1535325	biolink:OrganismalEntity	Candida/Lodderomyces clade		GC_ID:12	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1535325		
CHEBI:33708	biolink:ChemicalSubstance	amino-acid residue	When two or more amino acids combine to form a peptide, the elements of water are removed, and what remains of each amino acid is called an amino-acid residue.		mondo.json	amino-acid residues|amino-acid residue|amino acid residue	http://purl.obolibrary.org/obo/CHEBI_33708		
UBERON:0006574	biolink:AnatomicalEntity	pectinate line			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006574		
NCBITaxon:1535326	biolink:OrganismalEntity				mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1535326		
CHEBI:33700	biolink:ChemicalSubstance	proteinogenic amino-acid residue			mondo.json	common amino acid residues|canonical amino-acid residue|canonical amino-acid residues|proteinogenic amino-acid residues|standard amino-acid residues|standard amino acid residues	http://purl.obolibrary.org/obo/CHEBI_33700		
HP:0100639	biolink:PhenotypicFeature	Erectile dysfunction	A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological.		mondo.json	Erectile abnormalities|Abnormal erection	http://purl.obolibrary.org/obo/HP_0100639		
HGNC:2148	biolink:NamedThing	CNGA1			mondo.json		http://identifiers.org/hgnc/2148		
NCBITaxon:78536	biolink:OrganismalEntity	Euphyllophyta		GC_ID:1	mondo.json	euphyllophytes	http://purl.obolibrary.org/obo/NCBITaxon_78536		
MONDO:0044098	biolink:Disease	ovarian ectopic pregnancy	An abnormal pregnancy in which the conception is implanted on the ovary.	NCIT:C92945|MESH:D065172|SCTID:9899009	mondo.json	ovarian Pregnancies|ovarian pregnancy|ovary ectopic pregnancy|ectopic pregnancy of ovary|Pregnancies, ovarian	http://purl.obolibrary.org/obo/MONDO_0044098	http://identifiers.org/mesh/D065172|NCIT:C92945|http://identifiers.org/snomedct/9899009	
MONDO:0044092	biolink:Disease	collagenous sprue	A rare disorder affecting the digestive tract. Its cause is unclear but may be attributed, in part, to increased collagen synthesis without adequate fibrolysis. It is characterized histologically by atrophy of mucosal villi and crypts with extensive subepithelial collagen deposition. Clinical signs include nausea, vomiting, diarrhea and weight loss. Unlike celiac sprue (celiac disease), a gluten-free diet does not predict a certain regression of the disease. The clinical course follows a progression of malabsorption leading to nutritional deficiencies, small bowel ulceration/perforation, lymphoma and infection. Prognosis is usually dismal.	SCTID:61738006|NCIT:C45426|UMLS:C0341299|MESH:D064068	mondo.json	Sprues, collagenous|non-gluten sensitive enteropathy syndrome|collagenous Sprues|collagenous enteropathy syndrome|collagenous sprue|sprue, collagenous|collagenous enteropathy|non-gluten intolerance syndrome	http://purl.obolibrary.org/obo/MONDO_0044092	NCIT:C45426|UMLS:C0341299|http://identifiers.org/mesh/D064068|http://identifiers.org/snomedct/61738006	
GO:0005578	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0005578		
GO:0005579	biolink:NamedThing	membrane attack complex	A protein complex produced by sequentially activated components of the complement cascade inserted into a target cell membrane and forming a pore leading to cell lysis via ion and water flow.		mondo.json	TCC|membrane attack complex protein beta2 chain|MAC|membrane attack complex protein alphaM chain|terminal complement complex	http://purl.obolibrary.org/obo/GO_0005579		
GO:0005576	biolink:NamedThing	extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.		mondo.json	extracellular	http://purl.obolibrary.org/obo/GO_0005576		
GO:0005577	biolink:NamedThing	fibrinogen complex	A highly soluble, elongated protein complex found in blood plasma and involved in clot formation. It is converted into fibrin monomer by the action of thrombin. In the mouse, fibrinogen is a hexamer, 46 nm long and 9 nm maximal diameter, containing two sets of nonidentical chains (alpha, beta, and gamma) linked together by disulfide bonds.		mondo.json	fibrinogen alpha chain|fibrinogen beta chain|fibrinogen|fibrinogen gamma chain	http://purl.obolibrary.org/obo/GO_0005577		
GO:0005575	biolink:NamedThing	cellular_component	A location, relative to cellular compartments and structures, occupied by a macromolecular machine when it carries out a molecular function. There are two ways in which the gene ontology describes locations of gene products: (1) relative to cellular structures (e.g., cytoplasmic side of plasma membrane) or compartments (e.g., mitochondrion), and (2) the stable macromolecular complexes of which they are parts (e.g., the ribosome).		mondo.json	cell or subcellular entity|cellular component|subcellular entity	http://purl.obolibrary.org/obo/GO_0005575		
GO:0005589	biolink:NamedThing	collagen type VI trimer	A collagen heterotrimer containing type VI alpha chains in alpha1(VI)alpha2(VI)alpha3(VI) trimers; type VI collagen triple helices associate to form beaded fibrils.		mondo.json		http://purl.obolibrary.org/obo/GO_0005589		
GO:0005587	biolink:NamedThing	collagen type IV trimer	A collagen heterotrimer containing type IV alpha chains; [alpha1(IV)]2alpha2(IV) trimers are commonly observed, although more type IV alpha chains exist and may be present in type IV trimers; type IV collagen triple helices associate to form 3 dimensional nets within basement membranes.		mondo.json		http://purl.obolibrary.org/obo/GO_0005587		
GO:0030521	biolink:NamedThing	androgen receptor signaling pathway	The series of molecular signals initiated by androgen binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription.		mondo.json	androgen receptor signalling pathway	http://purl.obolibrary.org/obo/GO_0030521		
GO:0030522	biolink:NamedThing	intracellular receptor signaling pathway	The series of molecular signals initiated by a ligand binding to a receptor located within a cell.		mondo.json	intracellular receptor mediated signaling pathway|intracellular receptor-mediated signaling pathway|intracellular receptor-mediated signalling pathway	http://purl.obolibrary.org/obo/GO_0030522		
GO:0005585	biolink:NamedThing	collagen type II trimer	A collagen homotrimer of alpha1(II) chains; type II collagen triple helices associate to form fibrils.		mondo.json		http://purl.obolibrary.org/obo/GO_0005585		
GO:0005583	biolink:NamedThing	fibrillar collagen trimer	Any triple helical collagen trimer that forms fibrils.		mondo.json		http://purl.obolibrary.org/obo/GO_0005583		
GO:0005584	biolink:NamedThing	collagen type I trimer	A collagen trimer containing alpha(I) chains. The most common form of type I collagen is a heterotrimer containing two alpha1(I) chains and one alpha2(I) chain; homotrimers containing three alpha1(I) chains are also found. Type I collagen triple helices associate to form banded fibrils.		mondo.json		http://purl.obolibrary.org/obo/GO_0005584		
GO:0005581	biolink:NamedThing	collagen trimer	A protein complex consisting of three collagen chains assembled into a left-handed triple helix. These trimers typically assemble into higher order structures.		mondo.json		http://purl.obolibrary.org/obo/GO_0005581		
HP:0004841	biolink:PhenotypicFeature	Reduced factor XII activity	Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade.	UMLS:C0015526|SNOMEDCT_US:46981006|MSH:D005175	mondo.json	Factor XII deficiency|Hageman factor deficiency	http://purl.obolibrary.org/obo/HP_0004841		
OBA:0000001	biolink:NamedThing	biological attribute			mondo.json		http://purl.obolibrary.org/obo/OBA_0000001		
CHEBI:18186	biolink:ChemicalSubstance	tyrosine	An alpha-amino acid that is phenylalanine bearing a hydroxy substituent at position 4 on the phenyl ring.		mondo.json	Tyrosin|2-amino-3-(4-hydroxyphenyl)propanoic acid|2-Amino-3-(p-hydroxyphenyl)propionic acid|tyrosine|Tyrosine|Tyr|tirosina|Y|3-(p-Hydroxyphenyl)alanine	http://purl.obolibrary.org/obo/CHEBI_18186		
GO:0030518	biolink:NamedThing	intracellular steroid hormone receptor signaling pathway	The series of molecular signals initiated by a steroid binding to an intracellular steroid hormone receptor.		mondo.json	steroid hormone receptor signalling pathway|steroid hormone receptor signaling pathway	http://purl.obolibrary.org/obo/GO_0030518		
MONDO:0020096	biolink:Disease	autosomal recessive isolated diffuse palmoplantar keratoderma	Autosomal recessive form of isolated diffuse palmoplantar keratoderma.	Orphanet:98356|UMLS:CN229269	mondo.json	autosomal recessive isolated diffuse palmoplantar hyperkeratosis|isolated diffuse palmoplantar keratoderma, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0020096	UMLS:CN229269|Orphanet:98356	ordo_group_of_disorders|disease_grouping
MONDO:0020095	biolink:Disease	obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature	OBSOLETE. Autosomal dominant form of disease with focal palmoplantar keratoderma as a major feature.	UMLS:CN206999|Orphanet:98353	mondo.json	autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature|disease with focal palmoplantar keratoderma as a major feature, autosomal dominant|autosomal dominant disease with focal palmoplantar keratoderma as a major feature	http://purl.obolibrary.org/obo/MONDO_0020095	Orphanet:98353|UMLS:CN206999	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0020094	biolink:Disease	obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	OBSOLETE. Autosomal dominant form of disease with diffuse palmoplantar keratoderma as a major feature.	UMLS:CN206998|Orphanet:98352	mondo.json	autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature|disease with diffuse palmoplantar keratoderma as a major feature, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0020094	Orphanet:98352|UMLS:CN206998	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0020093	biolink:Disease	autosomal dominant isolated diffuse palmoplantar keratoderma	Autosomal dominant form of isolated diffuse palmoplantar keratoderma.	Orphanet:98349|UMLS:CN229268	mondo.json	isolated diffuse palmoplantar keratoderma, autosomal dominant|autosomal dominant isolated diffuse palmoplantar hyperkeratosis	http://purl.obolibrary.org/obo/MONDO_0020093	Orphanet:98349|UMLS:CN229268	disease_grouping|ordo_group_of_disorders
MONDO:0020092	biolink:Disease	obsolete rare idiopathic male infertility		UMLS:CN227777|Orphanet:98345	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020092	UMLS:CN227777|Orphanet:98345	ordo_disease
MONDO:0020091	biolink:Disease	obsolete male infertility due to obstructive azoospermia		Orphanet:98343	mondo.json	Male infertility due to impaired sperm transport	http://purl.obolibrary.org/obo/MONDO_0020091	Orphanet:98343	ordo_group_of_disorders
MONDO:0020090	biolink:Disease	obsolete male infertility due to gonadal dysgenesis		Orphanet:98313	mondo.json	Male infertility due to testicular dysgenesis	http://purl.obolibrary.org/obo/MONDO_0020090	Orphanet:98313	ordo_group_of_disorders
MONDO:0020099	biolink:Disease	inherited sideroblastic anemia		Orphanet:98362|OMIMPS:300751	mondo.json	constitutional sideroblastic anemia	http://purl.obolibrary.org/obo/MONDO_0020099	https://omim.org/phenotypicSeries/PS300751|Orphanet:98362	ordo_group_of_disorders|disease_grouping
MONDO:0020098	biolink:Disease	obsolete constitutional anemia due to iron metabolism disorder		Orphanet:98360|UMLS:CN227778	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020098	UMLS:CN227778|Orphanet:98360	ordo_group_of_disorders
MONDO:0020097	biolink:Disease	obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature	OBSOLETE. Autosomal recessive form of disease with focal palmoplantar keratoderma as a major feature.	UMLS:CN207000|Orphanet:98357	mondo.json	disease with focal palmoplantar keratoderma as a major feature, autosomal recessive|autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature	http://purl.obolibrary.org/obo/MONDO_0020097	Orphanet:98357|UMLS:CN207000	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
UBERON:0006518	biolink:AnatomicalEntity	right lung lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006518		
PATO:0000048	biolink:NamedThing	hardness	A physical quality inhering in a bearer by virtue of the bearer's resistance to pressure, being broken, or pierced		mondo.json	impenetrability|toughness	http://purl.obolibrary.org/obo/PATO_0000048		
UBERON:0006526	biolink:AnatomicalEntity	right lung alveolar system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006526		
UBERON:0006525	biolink:AnatomicalEntity	left lung alveolar system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006525		
UBERON:0006524	biolink:AnatomicalEntity	alveolar system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0006524		
CHEBI:18154	biolink:ChemicalSubstance	polysaccharide	A biomacromolecule consisting of large numbers of monosaccharide residues linked glycosidically. This term is commonly used only for those containing more than ten monosaccharide residues.		mondo.json	polysaccharides|Glycan|polisacarido|Glycane|polisacaridos|glycans|Glykan|Glykane|Polysaccharide	http://purl.obolibrary.org/obo/CHEBI_18154		
MONDO:0044067	biolink:Disease	candidiasis, invasive	A fungal infection by any of the Candida species in a sterile body compartment.	EFO:1001282|NCIT:C116813|MESH:D058365	mondo.json	invasive candidiases|invasive candidiasis|candidiases, invasive	http://purl.obolibrary.org/obo/MONDO_0044067	http://identifiers.org/mesh/D058365|NCIT:C116813	
PATO:0000051	biolink:NamedThing	morphology	A quality of a single physical entity inhering in the bearer by virtue of the bearer's size or shape or structure.		mondo.json		http://purl.obolibrary.org/obo/PATO_0000051		
HP:0002224	biolink:PhenotypicFeature	Woolly hair	The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.	UMLS:C4072836|UMLS:C4072835|UMLS:C4073292|MEDDRA:10048017|UMLS:C0343073|SNOMEDCT_US:52564001	mondo.json	Wooly hair|Nappy hair texture|Kinked hair|Kinky hair texture|Afro-textured hair	http://purl.obolibrary.org/obo/HP_0002224		hposlim_core
PATO:0000052	biolink:NamedThing	shape	A morphological quality inhering in a bearer by virtue of the bearer's ratios of distances between its features (points, edges, surfaces and also holes etc).		mondo.json	relational shape quality	http://purl.obolibrary.org/obo/PATO_0000052		
HP:0002227	biolink:PhenotypicFeature	White eyelashes	White color (lack of pigmentation) of the eyelashes.	UMLS:C1836736|UMLS:C4280578	mondo.json	Pale eyelashes|Blonde eyelashes|White eyelashes|Grey eyelashes|Depigmented eyelashes	http://purl.obolibrary.org/obo/HP_0002227		
HP:0002226	biolink:PhenotypicFeature	White eyebrow	White color (lack of pigmentation) of the eyebrow.	UMLS:C4280579|UMLS:C1836737|UMLS:C4280580	mondo.json	Pale eyebrow|White eyebrow|Blonde eyebrow|Grey eyebrow|Hypopigmented eyebrow|Depigmented eyebrow	http://purl.obolibrary.org/obo/HP_0002226		hposlim_core
HGNC:4702	biolink:NamedThing	GYPA			mondo.json		http://identifiers.org/hgnc/4702		
CHEBI:57756	biolink:ChemicalSubstance	sphingosine(1+)	The cationic sphingoid resulting from the protonation of the amino group of sphingosine.		mondo.json	sphing-4-enine|(2S,3R,4E)-1,3-dihydroxyoctadec-4-en-2-aminium	http://purl.obolibrary.org/obo/CHEBI_57756		
GO:0005515	biolink:NamedThing	protein binding	Binding to a protein.		mondo.json	glycoprotein binding|protein amino acid binding	http://purl.obolibrary.org/obo/GO_0005515		
MONDO:0044070	biolink:Disease	candidemia	A form of invasive candidiasis where species of candida are present in the blood.	EFO:1001311|MESH:D058387|UMLS:C0877445|SCTID:432261003	mondo.json	candidemia|Candidemias	http://purl.obolibrary.org/obo/MONDO_0044070	UMLS:C0877445|http://identifiers.org/snomedct/432261003|http://identifiers.org/mesh/D058387	
HGNC:4703	biolink:NamedThing	GYPB			mondo.json		http://identifiers.org/hgnc/4703		
PATO:0000069	biolink:NamedThing	deviation (from_normal)	A quality inhering in a bearer by virtue of the whether the bearer differs from normal or average.		mondo.json		http://purl.obolibrary.org/obo/PATO_0000069		
HGNC:4704	biolink:NamedThing	GYPC			mondo.json		http://identifiers.org/hgnc/4704		
HGNC:4706	biolink:NamedThing	GYS1			mondo.json		http://identifiers.org/hgnc/4706		
HGNC:4707	biolink:NamedThing	GYS2			mondo.json		http://identifiers.org/hgnc/4707		
MONDO:0044079	biolink:Disease	cardio-renal syndrome	A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ.	NCIT:C123225|SCTID:445236007|MESH:D059347|UMLS:C2242703|EFO:1001262	mondo.json	cardiorenal syndrome|cardio renal syndrome|syndromes, cardio-renal|syndrome, cardio-renal|Reno-Cardiac syndromes|cardiorenal syndromes|Reno Cardiac syndrome|syndrome, Renocardiac|cardio-renal syndromes|syndromes, Renocardiac|Reno-Cardiac syndrome|syndrome, cardiorenal|Renocardiac syndrome|syndromes, cardiorenal|Renocardiac syndromes|syndromes, Reno-Cardiac|syndrome, Reno-Cardiac	http://purl.obolibrary.org/obo/MONDO_0044079	http://identifiers.org/snomedct/445236007|http://identifiers.org/mesh/D059347|NCIT:C123225|UMLS:C2242703	
NCBITaxon:91561	biolink:OrganismalEntity	Artiodactyla		GC_ID:1	mondo.json	even-toed ungulates|Cetartiodactyla|whales, hippos, ruminants, pigs, camels etc.	http://purl.obolibrary.org/obo/NCBITaxon_91561		
PATO:0000068	biolink:NamedThing	qualitative			mondo.json		http://purl.obolibrary.org/obo/PATO_0000068		
HGNC:4713	biolink:NamedThing	H19			mondo.json		http://identifiers.org/hgnc/4713		
GO:0005518	biolink:NamedThing	collagen binding	Binding to collagen, a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%).		mondo.json		http://purl.obolibrary.org/obo/GO_0005518		
PATO:0000060	biolink:NamedThing	spatial pattern	A spatial quality inhering in a bearer by virtue of the bearer's exhibiting repetition of placement of its parts.		mondo.json	pattern|distribution	http://purl.obolibrary.org/obo/PATO_0000060		
MONDO:0044083	biolink:Disease	alternariosis	Opportunistic fungal infection by a member of Alternaria genus.	SCTID:238436005|EFO:1001893|MESH:D060487	mondo.json	cutaneous alternariosis|dermal Alternariosis|subcutaneous Alternariosis|cutaneous Alternariosis|Alternariosis, cutaneous|Alternarioses|Alternarioses, cutaneous|Alternarioses, subcutaneous|Alternarioses, dermal|dermal Alternarioses|cutaneous Alternarioses|subcutaneous Alternarioses|Alternariosis, dermal|Alternariosis, subcutaneous	http://purl.obolibrary.org/obo/MONDO_0044083	http://identifiers.org/mesh/D060487|http://identifiers.org/snomedct/238436005	
HP:0002209	biolink:PhenotypicFeature	Sparse scalp hair	Decreased number of hairs per unit area of skin of the scalp.	UMLS:C1873509|UMLS:C1857042	mondo.json	Sparse scalp hair|Reduced/lack of hair on scalp|Scalp hypotrichosis|Decreased number of scalp follicles|Reduction in the number of scalp follicles|Thinning scalp hair|Reduced amount of scalp hair|Thin scalp hair|Hypotrichosis on scalp	http://purl.obolibrary.org/obo/HP_0002209		
HP:0002202	biolink:PhenotypicFeature	Pleural effusion	The presence of an excessive amount of fluid in the pleural cavity.	UMLS:C0032227|SNOMEDCT_US:60046008|MSH:D010996	mondo.json	Fluid around lungs	http://purl.obolibrary.org/obo/HP_0002202		
HP:0002205	biolink:PhenotypicFeature	Recurrent respiratory infections	An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.	UMLS:C3806482	mondo.json	Frequent respiratory infections|respiratory infections, recurrent|Multiple respiratory infections|Susceptibility to respiratory infections|Recurrent respiratory infections	http://purl.obolibrary.org/obo/HP_0002205		
HP:0002204	biolink:PhenotypicFeature	Pulmonary embolism	An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.	SNOMEDCT_US:59282003|UMLS:C0034065|MSH:D011655	mondo.json	Blood clot in artery of lung	http://purl.obolibrary.org/obo/HP_0002204		
PATO:0000070	biolink:NamedThing	amount	The number of entities of this type that are part of the whole organism.		mondo.json	quantitative|count in organism|presence|number|presence or absence in organism	http://purl.obolibrary.org/obo/PATO_0000070		
CHEBI:33780	biolink:ChemicalSubstance	beryllium molecular entity			mondo.json	beryllium compounds|beryllium molecular entities	http://purl.obolibrary.org/obo/CHEBI_33780		
NCBITaxon:1781	biolink:OrganismalEntity	Mycobacterium marinum		PMID:12089250|GC_ID:11	mondo.json	Mycobacterium balnei|Mycobacterium platypoecilus	http://purl.obolibrary.org/obo/NCBITaxon_1781		
UBERON:0014621	biolink:AnatomicalEntity	cervical spinal cord ventral horn			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014621		
NCBITaxon:1789	biolink:OrganismalEntity	Mycobacterium xenopi		PMID:13641655|GC_ID:11|PMID:30186281	mondo.json	Mycobacterium xenopei|Mycobacterium xenopi Schwabacher 1959 (Approved Lists) emend. Nouioui et al. 2018	http://purl.obolibrary.org/obo/NCBITaxon_1789		
CHEBI:35498	biolink:ChemicalSubstance	diuretic	An agent that promotes the excretion of urine through its effects on kidney function.		mondo.json	diuretics	http://purl.obolibrary.org/obo/CHEBI_35498		
CHEBI:60466	biolink:ChemicalSubstance	peptide zwitterion	Zwitterionic form of any peptide where, in general, the amino terminus is positively charged and the carboxy terminus is negatively charged.		mondo.json	peptide zwitterions|a peptide	http://purl.obolibrary.org/obo/CHEBI_60466		
HGNC:9508	biolink:NamedThing	PSEN1			mondo.json		http://identifiers.org/hgnc/9508		
UBERON:0014614	biolink:AnatomicalEntity	cervical spinal cord white matter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014614		
UBERON:0014615	biolink:AnatomicalEntity	accessory nerve root			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014615		
HGNC:9509	biolink:NamedThing	PSEN2			mondo.json		http://identifiers.org/hgnc/9509		
OBO:ECTO_0000750	biolink:NamedThing	exposure to biomarker	An exposure to biomarker.		mondo.json	exposure to biomarker	http://purl.obolibrary.org/obo/ECTO_0000750		
CHEBI:35493	biolink:ChemicalSubstance	antipyretic	A drug that prevents or reduces fever by lowering the body temperature from a raised state. An antipyretic will not affect the normal body temperature if one does not have fever. Antipyretics cause the hypothalamus to override an interleukin-induced increase in temperature. The body will then work to lower the temperature and the result is a reduction in fever.		mondo.json	anti-pyretic	http://purl.obolibrary.org/obo/CHEBI_35493		
PO:0006079	biolink:NamedThing	shoot system meristem	A portion of meristem tissue (PO:0009013) that is part of a shoot system (PO:0009006).	PO_GIT:583|PO_GIT:472	mondo.json	シュート分裂組織 (Japanese, exact)|meristema del epiblasto (epiblastema) (Spanish, exact)	http://purl.obolibrary.org/obo/PO_0006079		TraitNet
SO:0001483	biolink:SequenceFeature	SNV	SNVs are single nucleotide positions in genomic DNA at which different sequence alternatives exist.		mondo.json	single nucleotide variant	http://purl.obolibrary.org/obo/SO_0001483		
PATO:0000499	biolink:NamedThing	decreased duration	A duration quality of a process which is relatively low.		mondo.json	shortened period|low period|fast time|decreased period|decreased time	http://purl.obolibrary.org/obo/PATO_0000499		
UBERON:0014610	biolink:AnatomicalEntity	thoracic spinal cord ventral horn			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014610		
PATO:0000498	biolink:NamedThing	increased duration	A duration quality of a process which is relatively high.		mondo.json	prolonged period|chronic|increased period|high time|increased time|slow time	http://purl.obolibrary.org/obo/PATO_0000498		
UBERON:0014613	biolink:AnatomicalEntity	cervical spinal cord gray matter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014613		
PCO:0000018	biolink:NamedThing	single-species collection of organisms	A material entity that has as parts two or more organisms, viruses, or viroids of the same species and no members of any other species.		mondo.json		http://purl.obolibrary.org/obo/PCO_0000018		
NCBITaxon:1763	biolink:OrganismalEntity	Mycobacterium		PMID:34554081|PMID:7907223|PMID:31649146|PMID:16014496|PMID:1883713|PMID:7547304|PMID:2275850|PMID:31296783|PMID:8863452|PMID:1380284|PMID:29497402|PMID:1581193|GC_ID:11|PMID:7547284|PMID:31649147	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1763		
UBERON:0002618	biolink:AnatomicalEntity	root of trochlear nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002618		
OBO:ECTO_0000724	biolink:NamedThing	exposure to genotoxin	An exposure to genotoxin.		mondo.json	exposure to genotoxin	http://purl.obolibrary.org/obo/ECTO_0000724		
GO:0000820	biolink:NamedThing	regulation of glutamine family amino acid metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amino acids of the glutamine family, comprising arginine, glutamate, glutamine and proline.		mondo.json	regulation of glutamine family amino acid metabolism	http://purl.obolibrary.org/obo/GO_0000820		
OBO:ECTO_0000726	biolink:NamedThing	exposure to allergen	An exposure to allergen.		mondo.json	exposure to allergen	http://purl.obolibrary.org/obo/ECTO_0000726		
NCBITaxon:1760	biolink:OrganismalEntity	Actinomycetia		PMID:10028260|PMID:11321122|PMID:19244447|PMID:28840812|GC_ID:11|PMID:30186281|PMID:11155976	mondo.json	high G+C Gram-positive bacteria|high G+C Gram-positive bacteria|Actinomycetes	http://purl.obolibrary.org/obo/NCBITaxon_1760		
OBO:ECTO_0000725	biolink:NamedThing	exposure to carcinogenic agent	An exposure to carcinogenic agent.		mondo.json	exposure to carcinogenic agent	http://purl.obolibrary.org/obo/ECTO_0000725		
UBERON:0002616	biolink:AnatomicalEntity	regional part of brain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002616		
NCBITaxon:1762	biolink:OrganismalEntity	Mycobacteriaceae		PMID:19244447|PMID:29497402|GC_ID:11|PMID:30186281	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1762		
NCBITaxon:1769	biolink:OrganismalEntity	Mycobacterium leprae		GC_ID:11	mondo.json	Bacillus leprae	http://purl.obolibrary.org/obo/NCBITaxon_1769		
CHEBI:35475	biolink:ChemicalSubstance	non-steroidal anti-inflammatory drug	An anti-inflammatory drug that is not a steroid. In addition to anti-inflammatory actions, non-steroidal anti-inflammatory drugs have analgesic, antipyretic, and platelet-inhibitory actions. They act by blocking the synthesis of prostaglandins by inhibiting cyclooxygenase, which converts arachidonic acid to cyclic endoperoxides, precursors of prostaglandins.		mondo.json	NSAID|non-steroidal anti-inflammatory agent|non-steroidal anti-inflammatory drugs|NSAIDs	http://purl.obolibrary.org/obo/CHEBI_35475		
CHEBI:35479	biolink:ChemicalSubstance	alkali metal salt			mondo.json	alkali metal salts	http://purl.obolibrary.org/obo/CHEBI_35479		
CHEBI:35470	biolink:ChemicalSubstance	central nervous system drug	A class of drugs producing both physiological and psychological effects through a variety of mechanisms involving the central nervous system.		mondo.json	central nervous system agents|CNS agent|CNS drugs	http://purl.obolibrary.org/obo/CHEBI_35470		
CHEBI:35472	biolink:ChemicalSubstance	anti-inflammatory drug	A substance that reduces or suppresses inflammation.		mondo.json	antiinflammatory agent|antiinflammatory drugs|antiinflammatory drug|anti-inflammatory drugs	http://purl.obolibrary.org/obo/CHEBI_35472		
CHEBI:35471	biolink:ChemicalSubstance	psychotropic drug	A loosely defined grouping of drugs that have effects on psychological function.		mondo.json	psychotropic drugs|psychoactive agent|psychoactive drugs|psychopharmaceuticals	http://purl.obolibrary.org/obo/CHEBI_35471		
OBO:ECTO_0000730	biolink:NamedThing	exposure to neurotoxin	An exposure to neurotoxin.		mondo.json	exposure to neurotoxin	http://purl.obolibrary.org/obo/ECTO_0000730		
NCBITaxon:34395	biolink:OrganismalEntity	Chaetothyriales		GC_ID:1	mondo.json	black yeasts	http://purl.obolibrary.org/obo/NCBITaxon_34395		
PCO:0000000	biolink:NamedThing	collection of organisms	A material entity that consists of two or more organisms, viruses, or viroids.		mondo.json		http://purl.obolibrary.org/obo/PCO_0000000		
GO:0048812	biolink:NamedThing	neuron projection morphogenesis	The process in which the anatomical structures of a neuron projection are generated and organized. A neuron projection is any process extending from a neural cell, such as axons or dendrites.		mondo.json	neurite morphogenesis|neurite formation|neurite biosynthesis|neurite growth	http://purl.obolibrary.org/obo/GO_0048812		
NCBITaxon:34390	biolink:OrganismalEntity	Epidermophyton		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_34390		
PCO:0000002	biolink:NamedThing	ecological community	A multi-species collection of organisms of at least two different species, living in a particular area. Must have at least two populations of different species as members.		mondo.json		http://purl.obolibrary.org/obo/PCO_0000002		
NCBITaxon:1773	biolink:OrganismalEntity	Mycobacterium tuberculosis		GC_ID:11|PMID:29205127	mondo.json	Mycobacterium tuberculosis typus humanus|Mycobacterium tuberculosis var. hominis|Bacillus tuberculosis|Mycobacterium tuberculosis variant tuberculosis|Bacterium tuberculosis	http://purl.obolibrary.org/obo/NCBITaxon_1773		
OBO:ECTO_0000738	biolink:NamedThing	exposure to ligand	An exposure to ligand.		mondo.json	exposure to ligand	http://purl.obolibrary.org/obo/ECTO_0000738		
PCO:0000001	biolink:NamedThing	population of organisms	A collection of organisms, all of the same species, that live in the same place.		mondo.json		http://purl.obolibrary.org/obo/PCO_0000001		
NCBITaxon:227984	biolink:OrganismalEntity	SARS coronavirus Tor2		GC_ID:1	mondo.json	Severe acute respiratory syndrome-related coronavirus Tor2|SARS Tor2	http://purl.obolibrary.org/obo/NCBITaxon_227984		
HGNC:9535	biolink:NamedThing	PSMA6			mondo.json		http://identifiers.org/hgnc/9535		
CHEBI:35488	biolink:ChemicalSubstance	central nervous system depressant	A loosely defined group of drugs that tend to reduce the activity of the central nervous system.		mondo.json	CNS depressants|central nervous system depressants	http://purl.obolibrary.org/obo/CHEBI_35488		
UBERON:0002610	biolink:AnatomicalEntity	cochlear nuclear complex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002610		
CHEBI:35481	biolink:ChemicalSubstance	non-narcotic analgesic	A drug that has principally analgesic, antipyretic and anti-inflammatory actions. Non-narcotic analgesics do not bind to opioid receptors.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_35481		
GO:0048817	biolink:NamedThing	negative regulation of hair follicle maturation	Any process that stops, prevents, or reduces the frequency, rate or extent of hair follicle maturation.		mondo.json	downregulation of hair follicle maturation|down regulation of hair follicle maturation|inhibition of hair follicle maturation|down-regulation of hair follicle maturation	http://purl.obolibrary.org/obo/GO_0048817		
CHEBI:35480	biolink:ChemicalSubstance	analgesic	An agent capable of relieving pain without the loss of consciousness or without producing anaesthesia. In addition, analgesic is a role played by a compound which is exhibited by a capability to cause a reduction of pain symptoms.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_35480		
GO:0048818	biolink:NamedThing	positive regulation of hair follicle maturation	Any process that activates or increases the frequency, rate or extent of hair follicle maturation.		mondo.json	activation of hair follicle maturation|up-regulation of hair follicle maturation|upregulation of hair follicle maturation|up regulation of hair follicle maturation|stimulation of hair follicle maturation	http://purl.obolibrary.org/obo/GO_0048818		
GO:0048819	biolink:NamedThing	regulation of hair follicle maturation	Any process that modulates the frequency, rate or extent of hair follicle maturation.		mondo.json		http://purl.obolibrary.org/obo/GO_0048819		
GO:0048820	biolink:NamedThing	hair follicle maturation	A developmental process, independent of morphogenetic (shape) change, that is required for a hair follicle to attain its fully functional state.		mondo.json		http://purl.obolibrary.org/obo/GO_0048820		
UBERON:0000017	biolink:AnatomicalEntity	exocrine pancreas			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000017		
UBERON:0000019	biolink:AnatomicalEntity	camera-type eye			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000019		
HP:0031348	biolink:PhenotypicFeature	Dextrotransposition of the great arteries	A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA.	Fyler:0700|Fyler:700	mondo.json	D-TGA|D-loop transposition of the great arteries	http://purl.obolibrary.org/obo/HP_0031348		
GO:0000803	biolink:NamedThing	sex chromosome	A chromosome involved in sex determination.		mondo.json		http://purl.obolibrary.org/obo/GO_0000803		
UBERON:0000025	biolink:AnatomicalEntity	tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000025		
GO:0000805	biolink:NamedThing	X chromosome	The sex chromosome present in both sexes of species in which the male is the heterogametic sex. Two copies of the X chromosome are present in each somatic cell of females and one copy is present in males.		mondo.json		http://purl.obolibrary.org/obo/GO_0000805		
UBERON:0000026	biolink:AnatomicalEntity	appendage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000026		
GO:0000806	biolink:NamedThing	Y chromosome	The sex chromosome present in males of species in which the male is the heterogametic sex; generally, the sex chromosome that pairs with the X chromosome in the heterogametic sex. The Y chromosome is absent from the cells of females and present in one copy in the somatic cells of males.		mondo.json		http://purl.obolibrary.org/obo/GO_0000806		
UBERON:0000020	biolink:AnatomicalEntity	sense organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000020		
HGNC:9545	biolink:NamedThing	PSMB8			mondo.json		http://identifiers.org/hgnc/9545		
UBERON:0002682	biolink:AnatomicalEntity	abducens nucleus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002682		
UBERON:0000021	biolink:AnatomicalEntity	cutaneous appendage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000021		
NCBITaxon:1783257	biolink:OrganismalEntity	PVC group		PMID:23851394|GC_ID:11|PMID:16704931|PMID:24185849	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1783257		
UBERON:0000006	biolink:AnatomicalEntity	islet of Langerhans			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000006		
UBERON:0002668	biolink:AnatomicalEntity	oculomotor nerve root			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002668		
UBERON:0000007	biolink:AnatomicalEntity	pituitary gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000007		
UBERON:0000009	biolink:AnatomicalEntity	submucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000009		
CHEBI:23482	biolink:ChemicalSubstance	cyclohexanones	Any alicyclic ketone based on a cyclohexane skeleton and its substituted derivatives thereof.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_23482		
GO:0000819	biolink:NamedThing	sister chromatid segregation	The cell cycle process in which sister chromatids are organized and then physically separated and apportioned to two or more sets.		mondo.json		http://purl.obolibrary.org/obo/GO_0000819		
UBERON:0014649	biolink:AnatomicalEntity	white matter of medulla oblongata			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014649		
UBERON:0000013	biolink:AnatomicalEntity	sympathetic nervous system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000013		
UBERON:0000014	biolink:AnatomicalEntity	zone of skin			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000014		
UBERON:0000015	biolink:AnatomicalEntity	non-material anatomical boundary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000015		
UBERON:0000016	biolink:AnatomicalEntity	endocrine pancreas			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000016		
UBERON:0000010	biolink:AnatomicalEntity	peripheral nervous system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000010		
UBERON:0000011	biolink:AnatomicalEntity	parasympathetic nervous system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000011		
UBERON:0002673	biolink:AnatomicalEntity	vestibular nuclear complex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002673		
UBERON:0000012	biolink:AnatomicalEntity	somatic nervous system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000012		
PCO:0000031	biolink:NamedThing	organismal entity	A material entity that is one or more organisms, viruses or viroids.		mondo.json		http://purl.obolibrary.org/obo/PCO_0000031		
GO:0048844	biolink:NamedThing	artery morphogenesis	The process in which the anatomical structures of arterial blood vessels are generated and organized. Arteries are blood vessels that transport blood from the heart to the body and its organs.		mondo.json	arterial morphogenesis|arteriogenesis	http://purl.obolibrary.org/obo/GO_0048844		
GO:0048845	biolink:NamedThing	venous blood vessel morphogenesis	The process in which the anatomical structures of venous blood vessels are generated and organized. Veins are blood vessels that transport blood from the body and its organs to the heart.		mondo.json	vein morphogenesis|venous morphogenesis	http://purl.obolibrary.org/obo/GO_0048845		
HP:0031365	biolink:PhenotypicFeature	Macular purpura	Purpura that is flat (non-palpable, not raised).		mondo.json	Flat purpura	http://purl.obolibrary.org/obo/HP_0031365		
PATO:0000467	biolink:NamedThing	present	A quality inhering in a bearer by virtue of the bearer's existence.		mondo.json	present in organism	http://purl.obolibrary.org/obo/PATO_0000467		
UBERON:0014640	biolink:AnatomicalEntity	occipital gyrus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014640		
PATO:0000460	biolink:NamedThing	abnormal	A quality inhering in a bearer by virtue of the bearer's deviation from normal or average.		mondo.json	defective|aberrant|atypia|atypical	http://purl.obolibrary.org/obo/PATO_0000460		
UBERON:0014636	biolink:AnatomicalEntity	thoracic spinal cord gray matter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014636		
PATO:0000461	biolink:NamedThing	normal	A quality inhering in a bearer by virtue of the bearer's exhibiting no deviation from normal or average.		mondo.json	average	http://purl.obolibrary.org/obo/PATO_0000461		
UBERON:0014637	biolink:AnatomicalEntity	thoracic spinal cord white matter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014637		
UBERON:0014639	biolink:AnatomicalEntity	frontal sulcus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014639		
UBERON:0000002	biolink:AnatomicalEntity	uterine cervix			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000002		
UBERON:0000003	biolink:AnatomicalEntity	naris			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000003		
UBERON:0000004	biolink:AnatomicalEntity	nose			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000004		
UBERON:0000005	biolink:AnatomicalEntity	chemosensory organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000005		
NCBITaxon:685953	biolink:OrganismalEntity	Philophthalmus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_685953		
PCO:0000029	biolink:NamedThing	multi-species collection of organisms	A collection of organisms that consists of two or more organisms from at least two species.		mondo.json		http://purl.obolibrary.org/obo/PCO_0000029		
UBERON:0000000	biolink:AnatomicalEntity	processual entity	An occurrent [span:Occurrent] that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity.		mondo.json		http://purl.obolibrary.org/obo/UBERON_0000000		
GO:0048856	biolink:NamedThing	anatomical structure development	The biological process whose specific outcome is the progression of an anatomical structure from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome.		mondo.json	development of an anatomical structure	http://purl.obolibrary.org/obo/GO_0048856		
HP:0031375	biolink:PhenotypicFeature	Refractory	Applies to a sign or symptom that is difficult to treat or cure.		mondo.json		http://purl.obolibrary.org/obo/HP_0031375		
HGNC:30492	biolink:NamedThing	DNAAF3			mondo.json		http://identifiers.org/hgnc/30492		
CHEBI:35442	biolink:ChemicalSubstance	antiparasitic agent	A substance used to treat or prevent parasitic infections.		mondo.json	antiparasitic drugs|parasiticides|antiparasitics	http://purl.obolibrary.org/obo/CHEBI_35442		
PATO:0000470	biolink:NamedThing	increased amount	An amount which is relatively high.		mondo.json	supernumerary|accessory|increased|present in greater numbers in organism|increased number	http://purl.obolibrary.org/obo/PATO_0000470		
GO:0048858	biolink:NamedThing	cell projection morphogenesis	The process in which the anatomical structures of a cell projection are generated and organized.		mondo.json		http://purl.obolibrary.org/obo/GO_0048858		
HGNC:9577	biolink:NamedThing	PSPH			mondo.json		http://identifiers.org/hgnc/9577		
HGNC:30497	biolink:NamedThing	KIF7			mondo.json		http://identifiers.org/hgnc/30497		
CHEBI:35441	biolink:ChemicalSubstance	antiinfective agent	A substance used in the prophylaxis or therapy of infectious diseases.		mondo.json	anti-infective drugs|anti-infective agents|antiinfective drug|antiinfective agents	http://purl.obolibrary.org/obo/CHEBI_35441		
PATO:0000407	biolink:NamedThing	flat	A quality inhering in a bearer by virtue of the bearer's having a horizontal surface without a slope, tilt, or curvature.		mondo.json	plate-like	http://purl.obolibrary.org/obo/PATO_0000407		
PATO:0000402	biolink:NamedThing	branched	A branchiness quality inhering in a bearer by virtue of the bearer's having branches.		mondo.json	ramiform|ramified	http://purl.obolibrary.org/obo/PATO_0000402		
GO:0034219	biolink:NamedThing	carbohydrate transmembrane transport	The process in which a carbohydrate is transported across a membrane.		mondo.json	carbohydrate membrane transport|transmembrane carbohydrate transport	http://purl.obolibrary.org/obo/GO_0034219		
GO:0009260	biolink:NamedThing	ribonucleotide biosynthetic process	The chemical reactions and pathways resulting in the formation of a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar.		mondo.json	ribonucleotide anabolism|ribonucleotide biosynthesis|ribonucleotide synthesis|ribonucleotide formation	http://purl.obolibrary.org/obo/GO_0009260		
PATO:0000404	biolink:NamedThing	coiled	A shape quality inhering in a bearer by virtue of the bearer's being curled or wound (especially in concentric rings or spirals).		mondo.json	spiral|helical|helix-shaped|helicoid|helicoidal	http://purl.obolibrary.org/obo/PATO_0000404		
PATO:0000406	biolink:NamedThing	curved	A curvature quality inhering in a bearer by virtue of the bearer's having or being marked by a curve or smoothly rounded bend.		mondo.json	bowing|curled	http://purl.obolibrary.org/obo/PATO_0000406		
NCBITaxon:526524	biolink:OrganismalEntity	Erysipelotrichia		GC_ID:11|PMID:23606477	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_526524		
GO:0010243	biolink:NamedThing	response to organonitrogen compound	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond.		mondo.json	response to organic nitrogen	http://purl.obolibrary.org/obo/GO_0010243		
GO:0009259	biolink:NamedThing	ribonucleotide metabolic process	The chemical reactions and pathways involving a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar.		mondo.json	ribonucleotide metabolism	http://purl.obolibrary.org/obo/GO_0009259		
PATO:0000411	biolink:NamedThing	circular	A shape quality inhering in a bearer by virtue of the bearer's being such that every part of the surface or the circumference is equidistant from the center.		mondo.json	round|rounded	http://purl.obolibrary.org/obo/PATO_0000411		
GO:0010259	biolink:NamedThing	multicellular organism aging	An aging process that has as participant a whole multicellular organism. Multicellular organism aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Multicellular organisms aging includes processes like cellular senescence and organ senescence, but is more inclusive. May precede death (GO:0016265) of an organism and may succeed developmental maturation (GO:0021700).		mondo.json		http://purl.obolibrary.org/obo/GO_0010259		
ENVO:0010001	biolink:NamedThing	anthropogenic environmental material	Anthropogenic material in or on which organisms may live.		mondo.json		http://purl.obolibrary.org/obo/ENVO_0010001		
ENVO:0010003	biolink:NamedThing	agricultural environmental material			mondo.json		http://purl.obolibrary.org/obo/ENVO_0010003		
GO:0010256	biolink:NamedThing	endomembrane system organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endomembrane system.		mondo.json	endomembrane system organisation|endomembrane organization	http://purl.obolibrary.org/obo/GO_0010256		
GO:0009235	biolink:NamedThing	cobalamin metabolic process	The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom.		mondo.json	vitamin B12 metabolism|vitamin B12 reduction|vitamin B12 metabolic process|cobalamin metabolism	http://purl.obolibrary.org/obo/GO_0009235		
HGNC:17494	biolink:NamedThing	GJC2			mondo.json		http://identifiers.org/hgnc/17494		
HGNC:17493	biolink:NamedThing	GMNN			mondo.json		http://identifiers.org/hgnc/17493		
HGNC:29478	biolink:NamedThing	ROGDI			mondo.json		http://identifiers.org/hgnc/29478		
GO:0009250	biolink:NamedThing	glucan biosynthetic process	The chemical reactions and pathways resulting in the formation of glucans, polysaccharides consisting only of glucose residues.		mondo.json	glucan biosynthesis|glucan anabolism|glucan synthesis|glucan formation	http://purl.obolibrary.org/obo/GO_0009250		
GO:0009251	biolink:NamedThing	glucan catabolic process	The chemical reactions and pathways resulting in the breakdown of glucans, polysaccharides consisting only of glucose residues.		mondo.json	glucan degradation|glucan breakdown|glucan catabolism	http://purl.obolibrary.org/obo/GO_0009251		
NCBITaxon:526525	biolink:OrganismalEntity	Erysipelotrichales		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_526525		
GO:0009247	biolink:NamedThing	glycolipid biosynthetic process	The chemical reactions and pathways resulting in the formation of glycolipid, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide).		mondo.json	glycolipid synthesis|glycolipid formation|glycolipid biosynthesis|glycolipid anabolism	http://purl.obolibrary.org/obo/GO_0009247		
NCBITaxon:1783272	biolink:OrganismalEntity	Terrabacteria group		GC_ID:11|PMID:18988685|PMID:23851394	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1783272		
NCBITaxon:1783270	biolink:OrganismalEntity	FCB group		GC_ID:11	mondo.json	Fibrobacter/Acidobacteria group|Fibrobacteres/Acidobacteria group|Fibrobacteres-Chlorobi-Bacteroidetes superphylum	http://purl.obolibrary.org/obo/NCBITaxon_1783270		
FOODON:03470107	biolink:NamedThing	food preservation process	The methods contributing to the prevention or retardation of microbial, enzymatic or oxidative spoilage and thus to the extension of shelf life. Index all methods for which information is available, even if a corresponding descriptor has already been used in *H. TREATMENT APPLIED*. Preservation descriptors refer to the finished food as a whole with these exceptions: (1) if the components of a multi-component food, such as cream pie, are preservation by different methods, index all methods; (2)  if chemical preservatives are declared on the label, always index them even if it is known that the preservative was introduced through or is only present in a component or ingredient of the food; and (3) if the preservation method for an ingredient is declared on the label (such as brie cheese made from pasteurized milk) index it. Also use *INGREDIENT preservation by THERMAL PROCESSING* or *INGREDIENT preservation by IRRADIATION* when ingredients have been pasteurized, ultrapasteurized, sterilized or irradiated.	http://www.langual.org/langual_thesaurus.asp?termid=J0107	mondo.json		http://purl.obolibrary.org/obo/FOODON_03470107		
UBERON:0002600	biolink:AnatomicalEntity	limbic lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002600		
HGNC:29456	biolink:NamedThing	TOR1AIP1			mondo.json		http://identifiers.org/hgnc/29456		
FOODON:03303918	biolink:NamedThing	human milk (raw)	Breast milk is the milk produced by the breasts (or mammary glands) of a human female to feed a child.	SUBSET_SIREN:F3918	mondo.json		http://purl.obolibrary.org/obo/FOODON_03303918		"subset_siren"
HGNC:29450	biolink:NamedThing	GLIS2			mondo.json		http://identifiers.org/hgnc/29450		
HGNC:29427	biolink:NamedThing	SH3TC2			mondo.json		http://identifiers.org/hgnc/29427		
HGNC:30417	biolink:NamedThing	SH2B1			mondo.json		http://identifiers.org/hgnc/30417		
HGNC:29426	biolink:NamedThing	CCBE1			mondo.json		http://identifiers.org/hgnc/29426		
HGNC:29420	biolink:NamedThing	RSPRY1			mondo.json		http://identifiers.org/hgnc/29420		
OBO:ECTO_0000776	biolink:NamedThing	exposure to signalling molecule	An exposure to signalling molecule.		mondo.json	exposure to signalling molecule	http://purl.obolibrary.org/obo/ECTO_0000776		
HGNC:29433	biolink:NamedThing	NEXMIF			mondo.json		http://identifiers.org/hgnc/29433		
CHEBI:84410	biolink:ChemicalSubstance	sphingoid base(1+)	A cationic sphingoid obtained by protonation of the amino group of any 2-amino-1,3-dihydroxysphingoid base.		mondo.json	a sphingoid base|2-amino-1,3-dihydroxysphingoid base(1+)	http://purl.obolibrary.org/obo/CHEBI_84410		
GO:0009201	biolink:NamedThing	ribonucleoside triphosphate biosynthetic process	The chemical reactions and pathways resulting in the formation of a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar.		mondo.json	ribonucleoside triphosphate anabolism|ribonucleoside triphosphate synthesis|ribonucleoside triphosphate formation|ribonucleoside triphosphate biosynthesis	http://purl.obolibrary.org/obo/GO_0009201		
GO:0009205	biolink:NamedThing	purine ribonucleoside triphosphate metabolic process	The chemical reactions and pathways involving purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar.		mondo.json	purine ribonucleoside triphosphate metabolism	http://purl.obolibrary.org/obo/GO_0009205		
GO:0009206	biolink:NamedThing	purine ribonucleoside triphosphate biosynthetic process	The chemical reactions and pathways resulting in the formation of purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar.		mondo.json	purine ribonucleoside triphosphate anabolism|purine ribonucleoside triphosphate synthesis|purine ribonucleoside triphosphate formation|purine ribonucleoside triphosphate biosynthesis	http://purl.obolibrary.org/obo/GO_0009206		
GO:0046165	biolink:NamedThing	alcohol biosynthetic process	The chemical reactions and pathways resulting in the formation of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom.		mondo.json	alcohol anabolism|alcohol synthesis|alcohol formation|alcohol biosynthesis	http://purl.obolibrary.org/obo/GO_0046165		
GO:0046164	biolink:NamedThing	alcohol catabolic process	The chemical reactions and pathways resulting in the breakdown of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom.		mondo.json	alcohol degradation|alcohol catabolism|alcohol breakdown	http://purl.obolibrary.org/obo/GO_0046164		
MONDO:0015490	biolink:Disease	predominantly small-vessel vasculitis		Orphanet:156146	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015490	Orphanet:156146	disease_grouping|ordo_group_of_disorders
UBERON:2002260	biolink:AnatomicalEntity	premaxillary-maxillary joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_2002260		
HGNC:29529	biolink:NamedThing	TBL1XR1			mondo.json		http://identifiers.org/hgnc/29529		
HGNC:29521	biolink:NamedThing	C12orf57			mondo.json		http://identifiers.org/hgnc/29521		
MONDO:0015499	biolink:Disease	paralytic facial malformation		Orphanet:156224	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015499	Orphanet:156224	disease_grouping|ordo_group_of_disorders
MONDO:0015494	biolink:Disease	isolated dystonia	A dystonia (disease) that is not part of a larger syndrome.	Orphanet:156159	mondo.json	isolated dystonic disorder|nonsyndromic dystonic disorder|Pure dystonia|nonsyndromic dystonia (disease)	http://purl.obolibrary.org/obo/MONDO_0015494	Orphanet:156159	disease_grouping|ordo_group_of_disorders
MONDO:0015493	biolink:Disease	lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy		Orphanet:156156	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015493	Orphanet:156156	ordo_disease
MONDO:0015492	biolink:Disease	Anti-neutrophil cytoplasmic antibody-associated vasculitis	Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls.	Orphanet:156152|UMLS:C2717865|MESH:D056648|GARD:0013011	mondo.json	antineutrophil cytoplasmic antibody-associated vasculitis|ANCA-associated vasculitis|AAV	http://purl.obolibrary.org/obo/MONDO_0015492	UMLS:C2717865|http://identifiers.org/mesh/D056648|Orphanet:156152	ordo_group_of_disorders|disease_grouping
MONDO:0015491	biolink:Disease	immune complex mediated vasculitis		Orphanet:156149	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015491	Orphanet:156149	disease_grouping|ordo_group_of_disorders
HGNC:30521	biolink:NamedThing	SLC46A1			mondo.json		http://identifiers.org/hgnc/30521		
MONDO:0015498	biolink:Disease	oromandibular-limb anomalies syndrome		UMLS:CN199634|Orphanet:156215	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015498	UMLS:CN199634|Orphanet:156215	disease_grouping|ordo_group_of_disorders
GO:0097755	biolink:NamedThing	obsolete positive regulation of blood vessel diameter	OBSOLETE. Any process that increases the diameter of blood vessels.		mondo.json	positive regulation of vasodilation	http://purl.obolibrary.org/obo/GO_0097755		
MONDO:0015497	biolink:Disease	hypoglossia/aglossia		Orphanet:156212	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015497	Orphanet:156212	ordo_group_of_disorders|disease_grouping
GO:0097756	biolink:NamedThing	obsolete negative regulation of blood vessel diameter	OBSOLETE. Any process that decreases the diameter of blood vessels.		mondo.json	negative regulation of vasodilation	http://purl.obolibrary.org/obo/GO_0097756		
MONDO:0015496	biolink:Disease	macroglossia	The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)	GARD:0003342|MedDRA:10025391|MESH:D008260|Orphanet:156207|UMLS:C0024421	mondo.json	enlarged tongue|giant tongue	http://purl.obolibrary.org/obo/MONDO_0015496	Orphanet:156207|http://identifiers.org/mesh/D008260|UMLS:C0024421	disease_grouping|ordo_group_of_disorders
MONDO:0015495	biolink:Disease	obsolete otomandibular dysplasia associated with monogenic syndromes		UMLS:CN199632|Orphanet:156202	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015495	Orphanet:156202|UMLS:CN199632	ordo_group_of_disorders
GO:0046173	biolink:NamedThing	polyol biosynthetic process	The chemical reactions and pathways resulting in the formation of a polyol, any alcohol containing three or more hydroxyl groups attached to saturated carbon atoms.		mondo.json	polyhydric alcohol biosynthetic process|polyol biosynthesis|polyol anabolism|polyol synthesis|polyol formation	http://purl.obolibrary.org/obo/GO_0046173		
NCIT:C19160	biolink:NamedThing	Occupation or Discipline	A grouping of occupations and fields of study.		mondo.json	Occupation or Discipline	http://purl.obolibrary.org/obo/NCIT_C19160		
GO:1900249	biolink:NamedThing	positive regulation of cytoplasmic translational elongation	Any process that activates or increases the frequency, rate or extent of cytoplasmic translational elongation.		mondo.json	up regulation of cytoplasmic translational elongation|up-regulation of cytoplasmic translational elongation|activation of cytoplasmic translational elongation|upregulation of cytoplasmic translational elongation	http://purl.obolibrary.org/obo/GO_1900249		
MONDO:0027462	biolink:Disease	autosomal recessive cutis laxa type 2C	An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.	OMIM:617402|DOID:0070140	mondo.json	autosomal recessive cutis laxa type IIC|cutis laxa, autosomal recessive, type IIC|cutis laxa, autosomal recessive, type 2C|ARCL2C	http://purl.obolibrary.org/obo/MONDO_0027462	DOID:0070140|https://omim.org/entry/617402	
GO:1900248	biolink:NamedThing	negative regulation of cytoplasmic translational elongation	Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translational elongation.		mondo.json	downregulation of cytoplasmic translational elongation|down regulation of cytoplasmic translational elongation|inhibition of cytoplasmic translational elongation|down-regulation of cytoplasmic translational elongation	http://purl.obolibrary.org/obo/GO_1900248		
HGNC:29536	biolink:NamedThing	MAPKBP1			mondo.json		http://identifiers.org/hgnc/29536		
GO:1900247	biolink:NamedThing	regulation of cytoplasmic translational elongation	Any process that modulates the frequency, rate or extent of cytoplasmic translational elongation.		mondo.json		http://purl.obolibrary.org/obo/GO_1900247		
MONDO:0015489	biolink:Disease	predominantly medium-vessel vasculitis		Orphanet:156143	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015489	Orphanet:156143	ordo_group_of_disorders|disease_grouping
MONDO:0015488	biolink:Disease	predominantly large-vessel vasculitis		Orphanet:156140	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015488	Orphanet:156140	ordo_group_of_disorders|disease_grouping
MONDO:0015483	biolink:Disease	mandibulofacial dysostosis	A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)	MESH:D008342|MedDRA:10051456|Orphanet:155899	mondo.json	bilateral and symmetric oto-mandibular dysplasia	http://purl.obolibrary.org/obo/MONDO_0015483	Orphanet:155899|http://identifiers.org/mesh/D008342	disease_grouping|ordo_group_of_disorders
MONDO:0015482	biolink:Disease	otomandibular dysplasia		Orphanet:155896	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015482	Orphanet:155896	disease_grouping|ordo_group_of_disorders
MONDO:0015481	biolink:Disease	coloboma of inferior eyelid	Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome.	SCTID:763133008|Orphanet:155889	mondo.json	Inferior palpebral coloboma	http://purl.obolibrary.org/obo/MONDO_0015481	http://identifiers.org/snomedct/763133008|Orphanet:155889	ordo_morphological_anomaly
MONDO:0015480	biolink:Disease	coloboma of superior eyelid	Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome.	SCTID:763132003|Orphanet:155884	mondo.json	superior palpebral coloboma	http://purl.obolibrary.org/obo/MONDO_0015480	http://identifiers.org/snomedct/763132003|Orphanet:155884	ordo_morphological_anomaly
MONDO:0015487	biolink:Disease	fatal infantile encephalocardiomyopathy	Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.	Orphanet:1561|DOID:0050713|SCTID:718124006|GARD:0001113	mondo.json	fatal infantile encephalomyopathy|fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency|fatal infantile cytochrome C oxidase deficiency|fatal infantile COX deficiency|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency|fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency	http://purl.obolibrary.org/obo/MONDO_0015487	Orphanet:1561|http://identifiers.org/snomedct/718124006|DOID:0050713	ordo_disease|gard_rare
MONDO:0015486	biolink:Disease	keratoconus	A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances.	ICD9:371.60|NCIT:C26806|DOID:10126|MESH:D007640|HP:0000563|ICD9:371.6|Orphanet:156071|UMLS:C0022578|SCTID:65636009|OMIMPS:148300|GARD:0006824|Orphanet:2335|MedDRA:10023353	mondo.json	conical cornea|isolated keratoconus|keratoconus|keratoconus (disease)|KC|noninflammatory corneal thining	http://purl.obolibrary.org/obo/MONDO_0015486	http://identifiers.org/mesh/D007640|UMLS:C0022578|DOID:10126|http://identifiers.org/snomedct/65636009|NCIT:C26806|Orphanet:2335|https://omim.org/phenotypicSeries/PS148300	ordo_group_of_disorders|disease_grouping
MONDO:0015485	biolink:Disease	primary hereditary glaucoma		Orphanet:156005	mondo.json	primary glaucoma	http://purl.obolibrary.org/obo/MONDO_0015485	Orphanet:156005	disease_grouping|ordo_group_of_disorders
MONDO:0015484	biolink:Disease	cysticercosis	Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs.	Orphanet:1560|EFO:0007231|ICD10CM:B69|DOID:10079|UMLS:C0010678|ICD9:123.1|MedDRA:10011775|SCTID:59051007|UMLS:C0338437|NCIT:C34520|GARD:0008194|MESH:D003551	mondo.json	tenia solium infectious disease|neurocysticercosis|tapeworm infection: pork|tapeworm infection: intestinal taenia solum|pork tapeworm infection|intestinal taenia solium infection|tapeworm infection: [intestinal taenia solium] or [pork]	http://purl.obolibrary.org/obo/MONDO_0015484	UMLS:C0010678|http://identifiers.org/snomedct/59051007|DOID:10079|http://identifiers.org/mesh/D003551|Orphanet:1560|http://purl.bioontology.org/ontology/ICD10CM/B69|NCIT:C34520|UMLS:C0338437	ordo_disease
HGNC:29508	biolink:NamedThing	KIDINS220			mondo.json		http://identifiers.org/hgnc/29508		
MONDO:0003487	biolink:Disease	pseudoglandular squamous cell carcinoma	A squamous cell carcinoma characterized by the formation of gland-like structures.	UMLS:C0334250|DOID:5524|NCIT:C4106|ICDO:8075/3|SCTID:403901001|UMLS:C0334393	mondo.json	adenoid squamous cell carcinoma|adenocarcinoma with squamous metaplasia (morphologic abnormality)|pseudoglandular epidermoid carcinoma|adenoacanthoma|pseudoglandular squamous cell carcinoma|acantholytic squamous cell carcinoma|adenocarcinoma with squamous metaplasia|pharyngeal tonsil squamous cell carcinoma|adenoid squamous cell carcinoma (morphologic abnormality)|pseudoglandular epidermoid cell carcinoma|pseudoglandular squamous carcinoma|adenoid squamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0003487	NCIT:C4106|UMLS:C0334250|http://identifiers.org/snomedct/403901001|UMLS:C0334393|DOID:5524	
MONDO:0003488	biolink:Disease	obsolete anal squamous cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003488		
MONDO:0003489	biolink:Disease	obsolete middle ear squamous cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003489		
MONDO:0003483	biolink:Disease	obsolete gastric squamous cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003483		
MONDO:0027451	biolink:Disease	autosomal recessive cutis laxa type 2D	An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13.	OMIM:617403|DOID:0070129	mondo.json	autosomal recessive cutis laxa type IID|ARCL2D|cutis laxa, autosomal recessive, type IID|cutis laxa, autosomal recessive, type 2D	http://purl.obolibrary.org/obo/MONDO_0027451	DOID:0070129|https://omim.org/entry/617403	
MONDO:0003484	biolink:Disease	obsolete penis squamous cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003484		
HGNC:29501	biolink:NamedThing	GPSM2			mondo.json		http://identifiers.org/hgnc/29501		
MONDO:0003485	biolink:Disease	obsolete colon squamous cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003485		
HGNC:29502	biolink:NamedThing	PJVK			mondo.json		http://identifiers.org/hgnc/29502		
MONDO:0003486	biolink:Disease	basaloid squamous cell carcinoma	A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading.	DOID:5522|UMLS:C1266005|NCIT:C54244|ICDO:8083/3	mondo.json	basaloid squamous cell carcinoma|basaloid carcinoma|basaloid squamous cell carcinoma (morphologic abnormality)|basaloid carcinoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003486	NCIT:C54244|UMLS:C1266005|DOID:5522	
MONDO:0003480	biolink:Disease	pineal region dysgerminoma	A dysgerminoma (disease) that involves the pineal body.	UMLS:C1335415|NCIT:C7169|DOID:5510	mondo.json	pineal region dysgerminoma|pineal body dysgerminoma (disease)|pineal dysgerminoma	http://purl.obolibrary.org/obo/MONDO_0003480	UMLS:C1335415|DOID:5510|NCIT:C7169	
MONDO:0003481	biolink:Disease	dysgerminoma of ovary	A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage.	ONCOTREE:ODYS|SCTID:254874008|EFO:1000414|UMLS:C0346185|NCIT:C8106|DOID:5511	mondo.json	dysgerminoma of the ovary|dysgerminoma of ovary|ovarian germ cell dysgerminoma|germ cell dysgerminoma of the ovary|germ cell dysgerminoma of ovary|dysgerminoma|ovarian dysgerminoma|ovary dysgerminoma (disease)	http://purl.obolibrary.org/obo/MONDO_0003481	UMLS:C0346185|DOID:5511|NCIT:C8106|http://identifiers.org/snomedct/254874008	
GO:0046189	biolink:NamedThing	phenol-containing compound biosynthetic process	The chemical reactions and pathways resulting in the formation of a phenol, any compound containing one or more hydroxyl groups directly attached to an aromatic carbon ring.		mondo.json	phenol-containing compound anabolism|phenol-containing compound synthesis|phenol-containing compound formation|phenol-containing compound biosynthesis	http://purl.obolibrary.org/obo/GO_0046189		
MONDO:0003482	biolink:Disease	Pediculus humanus corporis infestation	A infectious disease involving the Pediculus humanus corporis.	ICD9:132.1|UMLS:C0030758|DOID:5513|SCTID:25188002	mondo.json	Pediculus humanus corporis infection|Pediculus corporis|Pediculus humanus infestation|infections, Pediculus humanus corporis|Pediculus corporis [body louse]|body louse infestation	http://purl.obolibrary.org/obo/MONDO_0003482	http://identifiers.org/snomedct/25188002|DOID:5513|UMLS:C0030758	
GO:0009199	biolink:NamedThing	ribonucleoside triphosphate metabolic process	The chemical reactions and pathways involving a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar.		mondo.json	ribonucleoside triphosphate metabolism	http://purl.obolibrary.org/obo/GO_0009199		
MONDO:0015479	biolink:Disease	submucosal cleft palate		Orphanet:155878	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015479	Orphanet:155878	ordo_morphological_anomaly
MONDO:0015478	biolink:Disease	paramedian facial cleft		Orphanet:155867	mondo.json	Tessier number 1-1 and 2-12 facial cleft	http://purl.obolibrary.org/obo/MONDO_0015478	Orphanet:155867	ordo_group_of_disorders|disease_grouping
GO:0010185	biolink:NamedThing	regulation of cellular defense response	Any process that modulates the frequency, rate or extent of cellular defense response.		mondo.json	regulation of cellular defence response	http://purl.obolibrary.org/obo/GO_0010185		
GO:0010186	biolink:NamedThing	positive regulation of cellular defense response	Any process that activates or increases the frequency, rate or extent of cellular defense response.		mondo.json	up regulation of cellular defense response|positive regulation of cellular defence response|activation of cellular defense response|stimulation of cellular defense response|upregulation of cellular defense response|up-regulation of cellular defense response	http://purl.obolibrary.org/obo/GO_0010186		
MONDO:0015477	biolink:Disease	pinnae fistula or cyst	Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated.	Orphanet:155838	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015477	Orphanet:155838	ordo_morphological_anomaly
MONDO:0015472	biolink:Disease	obsolete cryptococcosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015472		
HGNC:30500	biolink:NamedThing	PRRT2			mondo.json		http://identifiers.org/hgnc/30500		
MONDO:0015471	biolink:Disease	benign focal seizures of adolescence		UMLS:C4275141|SCTID:715425000|Orphanet:1544	mondo.json	adolescent benign focal crisis	http://purl.obolibrary.org/obo/MONDO_0015471	UMLS:C4275141|http://identifiers.org/snomedct/715425000|Orphanet:1544	ordo_disease
MONDO:0015470	biolink:Disease	familial isolated dilated cardiomyopathy	Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.	Orphanet:154|OMIM:615248|UMLS:CN199609	mondo.json	familial or idiopathic dilated cardiomyopathy|familial isolated dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0015470	UMLS:CN199609|Orphanet:154	ordo_disease
MONDO:0015476	biolink:Disease	cysts and fistulae of the face and oral cavity		Orphanet:155835	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015476	Orphanet:155835	ordo_group_of_disorders|disease_grouping
MONDO:0015475	biolink:Disease	obsolete rare head and neck malformation		Orphanet:155832|UMLS:CN226686	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015475	Orphanet:155832|UMLS:CN226686	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
GO:0097734	biolink:NamedThing	extracellular exosome biogenesis	The assembly and secretion of an extracellular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane.		mondo.json	exosome production|exosome assembly or secretion|intraluminal vesicle assembly|exosome biogenesis|ILV assembly	http://purl.obolibrary.org/obo/GO_0097734		
MONDO:0015474	biolink:Disease	cryptosporidiosis	Intestinal infection with organisms of the genus Cryptosporidium. It occurs in both animals and humans. Symptoms include severe diarrhea.	MESH:D003457|SCTID:66160001|ICD9:007.4|NCIT:C128408|UMLS:C0010418|ICD10CM:A07.2|Orphanet:1549|MedDRA:10011502|DOID:1733|UMLS:C0520796|GARD:0006219	mondo.json	Cryptosporidium disease or disorder|Cryptosporidium infection|intestinal cryptosporidiosis|Cryptosporidial gastroenteritis|Cryptosporidioses|infection by Cryptosporidium|Cryptosporidium infectious disease|Cryptosporidium caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0015474	UMLS:C0010418|http://identifiers.org/snomedct/66160001|DOID:1733|http://identifiers.org/mesh/D003457|UMLS:C0520796|http://purl.bioontology.org/ontology/ICD10CM/A07.2|Orphanet:1549|NCIT:C128408	ordo_disease|gard_rare
MONDO:0015473	biolink:Disease	cryptorchidism-arachnodactyly-intellectual disability syndrome	Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.	UMLS:CN199616|Orphanet:1548|GARD:0000860	mondo.json	cryptorchidism arachnodactyly intellectual deficit|Van Benthem-Driessen-Hanveld syndrome	http://purl.obolibrary.org/obo/MONDO_0015473	UMLS:CN199616|Orphanet:1548	ordo_malformation_syndrome
MONDO:0003498	biolink:Disease	obsolete gallbladder squamous cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003498		
HGNC:29515	biolink:NamedThing	PLEKHG2			mondo.json		http://identifiers.org/hgnc/29515		
MONDO:0003499	biolink:Disease	sarcomatoid squamous cell skin carcinoma	A squamous cell carcinoma of the skin with a prominent spindle cell component.	NCIT:C4666|SCTID:403900000|SCTID:254653005|UMLS:C0349656|NCIT:C27084|DOID:5536	mondo.json	spindle cell squamous carcinoma of skin|spindle cell squamous carcinoma of the skin|spindle cell (sarcomatoid) squamous cell skin carcinoma|spindle cell squamous cell carcinoma|spindle cell (sarcomatoid) squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003499	UMLS:C0349656|NCIT:C4666|http://identifiers.org/snomedct/254653005|DOID:5536	
MONDO:0003494	biolink:Disease	ovarian squamous cell carcinoma	A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor.	DOID:5531|UMLS:C2019443|EFO:1000432|NCIT:C40093	mondo.json	ovary squamous cell carcinoma|ovarian squamous cell cancer|ovarian squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003494	UMLS:C2019443|NCIT:C40093|DOID:5531	
NCBITaxon:10404	biolink:OrganismalEntity	Hepadnaviridae		GC_ID:1	mondo.json	hepatitis B-type viruses	http://purl.obolibrary.org/obo/NCBITaxon_10404		
MONDO:0003495	biolink:Disease	ovarian squamous cell neoplasm	A squamous cell tumor that arises from the ovary and is not associated with a germ cell tumor.	DOID:5532|UMLS:C1518739|NCIT:C40092	mondo.json	ovarian squamous cell tumor|ovary squamous cell neoplasm|ovarian squamous cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0003495	UMLS:C1518739|NCIT:C40092|DOID:5532	
NCBITaxon:10405	biolink:OrganismalEntity	Orthohepadnavirus		GC_ID:1	mondo.json	mammalian hepatitis B-type viruses	http://purl.obolibrary.org/obo/NCBITaxon_10405		
MONDO:0003496	biolink:Disease	obsolete endometrial squamous cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003496		
MONDO:0003497	biolink:Disease	renal pelvis squamous cell carcinoma	A squamous cell carcinoma that involves the renal pelvis.	NCIT:C7732|UMLS:C0238409|DOID:5534	mondo.json	epidermoid carcinoma of the kidney pelvis|kidney pelvis squamous cell carcinoma|kidney pelvis epidermoid carcinoma|squamous cell carcinoma of the renal pelvis|kidney renal pelvis squamous cell cancer|renal pelvis squamous cell carcinoma|squamous cell carcinoma of renal pelvis|squamous cell carcinoma of the kidney pelvis|squamous cell carcinoma of kidney pelvis|renal pelvis epidermoid carcinoma|epidermoid carcinoma of renal pelvis|epidermoid carcinoma of the renal pelvis|epidermoid carcinoma of kidney pelvis|renal pelvis squamous cell cancer	http://purl.obolibrary.org/obo/MONDO_0003497	NCIT:C7732|UMLS:C0238409|DOID:5534	
NCBITaxon:10407	biolink:OrganismalEntity	Hepatitis B virus		GC_ID:1	mondo.json	human hepatitis B virus HBV|HBV|hepatitis B virus (HBV)|hepatitis B virus, HBV|Human hepatitis B virus|hepatitis B virus HBV	http://purl.obolibrary.org/obo/NCBITaxon_10407		
HGNC:29514	biolink:NamedThing	GLDN			mondo.json		http://identifiers.org/hgnc/29514		
MONDO:0003490	biolink:Disease	ampulla of vater squamous cell carcinoma	A carcinoma with squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.	NCIT:C27417|DOID:5527|UMLS:C1332251	mondo.json	hepatopancreatic ampulla squamous cell carcinoma|ampulla of Vater squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003490	UMLS:C1332251|DOID:5527|NCIT:C27417	
MONDO:0003491	biolink:Disease	obsolete rectum squamous cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003491		
MONDO:0003492	biolink:Disease	lacrimal gland squamous cell carcinoma	A squamous cell carcinoma that involves the lacrimal gland.	UMLS:C1334360|NCIT:C6092|DOID:5529	mondo.json	squamous cell carcinoma of the lacrimal gland|lacrimal gland squamous cell carcinoma|epidermoid carcinoma of the lacrimal gland|epidermoid carcinoma of lacrimal gland|lacrimal gland epidermoid carcinoma|squamous cell carcinoma of lacrimal gland	http://purl.obolibrary.org/obo/MONDO_0003492	UMLS:C1334360|DOID:5529|NCIT:C6092	
MONDO:0003493	biolink:Disease	thymus squamous cell carcinoma	A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation.	DOID:5530|EFO:1000579|UMLS:C1336082|NCIT:C6455	mondo.json	Thymus squamous cell carcinoma|thymic squamous cell carcinoma|epidermoid thymic carcinoma|squamous cell carcinoma of Thymus|thymus squamous cell carcinoma|squamous cell carcinoma of the Thymus	http://purl.obolibrary.org/obo/MONDO_0003493	NCIT:C6455|UMLS:C1336082|DOID:5530	
MONDO:0015469	biolink:Disease	craniosynostosis	Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.	MedDRA:10049889|GARD:0006209|OMIMPS:123100|Orphanet:1531|MESH:D003398|NCIT:C84655|DOID:2340|MedDRA:10048907|UMLS:C0010278|ICD10CM:Q75.0	mondo.json	CSO|craniosynostosis syndrome|premature closure of cranial sutures	http://purl.obolibrary.org/obo/MONDO_0015469	Orphanet:1531|DOID:2340|UMLS:C0010278|NCIT:C84655|http://identifiers.org/mesh/D003398|http://purl.bioontology.org/ontology/ICD10CM/Q75.0|https://omim.org/phenotypicSeries/PS123100	ordo_group_of_disorders|disease_grouping
MONDO:0015468	biolink:Disease	craniosynostosis-cataract syndrome		Orphanet:1530|UMLS:CN226684	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015468	UMLS:CN226684|Orphanet:1530	ordo_malformation_syndrome
HP:0008905	biolink:PhenotypicFeature	Rhizomelia	Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).	UMLS:C1866730	mondo.json	Short stature, rhizomelic|Rhizomelic shortening|Rhizomelic short stature|Disproportionately short upper portion of limb|Rhizomelic short limbs|Rhizomelic limb shortening|Symmetrical rhizomelic limb shortening|Rhizomelic dwarfism	http://purl.obolibrary.org/obo/HP_0008905		hposlim_core
MONDO:0015467	biolink:Disease	craniosynostosis, Philadelphia type	Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.	OMIM:185900|SCTID:720818003|Orphanet:1527|MESH:C563368|GARD:0001601	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015467	Orphanet:1527|http://identifiers.org/mesh/C563368|http://identifiers.org/snomedct/720818003	ordo_malformation_syndrome
MONDO:0015466	biolink:Disease	cranio-osteoarthropathy	Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.	SCTID:720753002|GARD:0001564|OMIM:259100|UMLS:CN199601|Orphanet:1525	mondo.json	cranio osteoarthropathy|Currarino disease|Reginato-Schiapachasse syndrome|Currarino idiopathic osteoarthropathy	http://purl.obolibrary.org/obo/MONDO_0015466	Orphanet:1525|http://identifiers.org/snomedct/720753002|UMLS:CN199601	ordo_malformation_syndrome|gard_rare
MONDO:0015461	biolink:Disease	short rib-polydactyly syndrome	Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).	UMLS:C0036996|MESH:D012779|SCTID:205484001|ICD9:756.3|Orphanet:1505|NCIT:C85065	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015461	http://identifiers.org/mesh/D012779|NCIT:C85065|UMLS:C0036996|http://identifiers.org/snomedct/205484001|Orphanet:1505	ordo_group_of_disorders|disease_grouping
MONDO:0015460	biolink:Disease	obsolete adrenocortical carcinoma	OBSOLETE. A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0015460		
GO:0097746	biolink:NamedThing	blood vessel diameter maintenance	Any process that modulates the diameter of blood vessels.		mondo.json	regulation of vasodilation|regulation of vasodilatation|blood vessel diameter homeostasis|regulation of blood vessel diameter|regulation of blood vessel size	http://purl.obolibrary.org/obo/GO_0097746		
MONDO:0015465	biolink:Disease	craniometaphyseal dysplasia	Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.	DOID:0080033|OMIMPS:123000|SCTID:36601008|ICD9:756.89|Orphanet:1522	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015465	http://identifiers.org/snomedct/36601008|https://omim.org/phenotypicSeries/PS123000|DOID:0080033|Orphanet:1522	ordo_malformation_syndrome
MONDO:0015464	biolink:Disease	craniofrontonasal dysplasia-Poland anomaly syndrome	Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far.	Orphanet:1521|SCTID:720757001|UMLS:CN199598	mondo.json	Webster-Deming syndrome	http://purl.obolibrary.org/obo/MONDO_0015464	UMLS:CN199598|http://identifiers.org/snomedct/720757001|Orphanet:1521	ordo_malformation_syndrome
MONDO:0015463	biolink:Disease	craniodigital syndrome-intellectual disability syndrome	Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.	GARD:0004776|Orphanet:1514|SCTID:763665007|OMIM:312860|MESH:C537528|UMLS:C1839311	mondo.json	craniodigital-intellectual disability syndrome|Scott craniodigital syndrome with mental retardation|craniodigital syndrome-intellectual disability, Scott type|Scott Bryant Graham syndrome|craniodigital syndrome with mental retardation|Scott-Bryant-Graham syndrome|craniodigital syndrome with intellectual disability|Scott craniodigital syndrome with intellectual disability|craniodigital syndrome-mental retardation, Scott type|Scott craniodigital syndrome	http://purl.obolibrary.org/obo/MONDO_0015463	http://identifiers.org/snomedct/763665007|http://identifiers.org/mesh/C537528|Orphanet:1514|UMLS:C1839311	ordo_malformation_syndrome|gard_rare
MONDO:0015462	biolink:Disease	thin ribs-tubular bones-dysmorphism syndrome		MESH:C537595|Orphanet:1506|UMLS:C2931543	mondo.json	Sharma-Kapoor-Ramji syndrome	http://purl.obolibrary.org/obo/MONDO_0015462	UMLS:C2931543|http://identifiers.org/mesh/C537595|Orphanet:1506	ordo_malformation_syndrome
GO:0009185	biolink:NamedThing	ribonucleoside diphosphate metabolic process	The chemical reactions and pathways involving a ribonucleoside diphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with diphosphate on the sugar.		mondo.json	ribonucleoside diphosphate metabolism	http://purl.obolibrary.org/obo/GO_0009185		
NCIT:C20181	biolink:NamedThing	Conceptual Entity	An organizational header for concepts representing mostly abstract entities.		mondo.json	Conceptual Entity	http://purl.obolibrary.org/obo/NCIT_C20181		
GO:0009179	biolink:NamedThing	purine ribonucleoside diphosphate metabolic process	The chemical reactions and pathways involving purine ribonucleoside diphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with diphosphate on the sugar.		mondo.json	purine ribonucleoside diphosphate metabolism	http://purl.obolibrary.org/obo/GO_0009179		
UBERON:0036068	biolink:AnatomicalEntity	subglottis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036068		
HGNC:17513	biolink:NamedThing	HOMER2			mondo.json		http://identifiers.org/hgnc/17513		
UBERON:0036073	biolink:AnatomicalEntity	respiratory primordium mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036073		
UBERON:0036072	biolink:AnatomicalEntity	respiratory primordium epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036072		
UBERON:0036074	biolink:AnatomicalEntity	vein of vestibular aqueduct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036074		
GO:0009161	biolink:NamedThing	ribonucleoside monophosphate metabolic process	The chemical reactions and pathways involving a ribonucleoside monophosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with phosphate on the sugar.		mondo.json	ribonucleoside monophosphate metabolism	http://purl.obolibrary.org/obo/GO_0009161		
GO:0009156	biolink:NamedThing	ribonucleoside monophosphate biosynthetic process	The chemical reactions and pathways resulting in the formation of a ribonucleoside monophosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with phosphate on the sugar.		mondo.json	ribonucleoside monophosphate biosynthesis|ribonucleoside monophosphate anabolism|ribonucleoside monophosphate synthesis|ribonucleoside monophosphate formation	http://purl.obolibrary.org/obo/GO_0009156		
GO:0009165	biolink:NamedThing	nucleotide biosynthetic process	The chemical reactions and pathways resulting in the formation of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates).		mondo.json	nucleotide anabolism|nucleotide synthesis|nucleotide formation|nucleotide biosynthesis	http://purl.obolibrary.org/obo/GO_0009165		
GO:0009166	biolink:NamedThing	nucleotide catabolic process	The chemical reactions and pathways resulting in the breakdown of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates).		mondo.json	nucleotide degradation|nucleotide breakdown|nucleotide catabolism	http://purl.obolibrary.org/obo/GO_0009166		
GO:0010155	biolink:NamedThing	regulation of proton transport	Any process that modulates the frequency, rate or extent of proton transport into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0010155		
GO:0034101	biolink:NamedThing	erythrocyte homeostasis	Any process of regulating the production and elimination of erythrocytes within an organism.		mondo.json	red blood cell homeostasis|RBC homeostasis	http://purl.obolibrary.org/obo/GO_0034101		
GO:0009167	biolink:NamedThing	purine ribonucleoside monophosphate metabolic process	The chemical reactions and pathways involving purine ribonucleoside monophosphate, a compound consisting of a purine base linked to a ribose sugar esterified with phosphate on the sugar.		mondo.json	purine ribonucleoside monophosphate metabolism	http://purl.obolibrary.org/obo/GO_0009167		
GO:0009168	biolink:NamedThing	purine ribonucleoside monophosphate biosynthetic process	The chemical reactions and pathways resulting in the formation of purine ribonucleoside monophosphate, a compound consisting of a purine base linked to a ribose sugar esterified with phosphate on the sugar.		mondo.json	purine ribonucleoside monophosphate anabolism|purine ribonucleoside monophosphate synthesis|purine ribonucleoside monophosphate biosynthesis|purine ribonucleoside monophosphate formation	http://purl.obolibrary.org/obo/GO_0009168		
GO:0034103	biolink:NamedThing	regulation of tissue remodeling	Any process that modulates the frequency, rate, or extent of tissue remodeling.		mondo.json		http://purl.obolibrary.org/obo/GO_0034103		
GO:0034104	biolink:NamedThing	negative regulation of tissue remodeling	Any process that stops, prevents, or reduces the frequency, rate, or extent of tissue remodeling.		mondo.json		http://purl.obolibrary.org/obo/GO_0034104		
GO:0034105	biolink:NamedThing	positive regulation of tissue remodeling	Any process that activates or increases the frequency, rate, or extent of tissue remodeling.		mondo.json		http://purl.obolibrary.org/obo/GO_0034105		
MONDO:0003425	biolink:Disease	ophthalmoplegia	Weakness or paralysis of at least one of the muscles controlling the movement of the eye. It results from degeneration of the muscles or the neural pathways involved in the eye movement. Representative disorders causing ophthalmoplegia include ocular myopathies and multiple sclerosis.	ICD9:378.56|MESH:D009886|DOID:539|SCTID:78097002	mondo.json	oculomotor paralysis|total ophthalmoplegia	http://purl.obolibrary.org/obo/MONDO_0003425	http://identifiers.org/snomedct/78097002|DOID:539|http://identifiers.org/mesh/D009886	
MONDO:0003426	biolink:Disease	clear cell adenoma	A benign neoplasm composed of glands containing epithelial clear cells.	DOID:5390|UMLS:C0334315|ICDO:8310/0|NCIT:C4151	mondo.json	clear cell adenoma (morphologic abnormality)|adenoma, clear cell, benign|clear cell adenoma	http://purl.obolibrary.org/obo/MONDO_0003426	NCIT:C4151|UMLS:C0334315|DOID:5390	
MONDO:0003427	biolink:Disease	bronchus adenoma	A benign lung neoplasm characterized by the presence of a fibrovascular stroma lined by cuboidal to columnar cells. Patients are usually asymptomatic and it is incidentally discovered as a pulmonary nodule during chest X-ray examination. Surgical excision is curative.	NCIT:C3494|ICDO:8260/0|DOID:5391|UMLS:C0149845	mondo.json	adenoma, bronchial, benign|bronchial adenoma|bronchial adenoma NOS (morphologic abnormality)|type II pneumocyte adenoma|lung papillary adenoma|papillary adenoma of type II pneumocytes|adenoma of the bronchus|adenoma of bronchus|peripheral papillary tumor of type II pneumocytes|bronchus adenoma	http://purl.obolibrary.org/obo/MONDO_0003427	UMLS:C0149845|NCIT:C3494|DOID:5391	
MONDO:0003428	biolink:Disease	brain hemangioma	A hemangioma arising from the brain.	DOID:5393|NCIT:C7739|UMLS:C0238814	mondo.json	brain hemangioma|brain angioma	http://purl.obolibrary.org/obo/MONDO_0003428	NCIT:C7739|UMLS:C0238814|DOID:5393	
MONDO:0003421	biolink:Disease	mixed cell adenoma	An adenoma characterized by the presence of a mixed epithelial cell population.	UMLS:C0334323|NCIT:C4157|ICDO:8323/0|DOID:5385	mondo.json	mixed cell adenoma	http://purl.obolibrary.org/obo/MONDO_0003421	UMLS:C0334323|DOID:5385|NCIT:C4157	
MONDO:0003422	biolink:Disease	lung adenoma	A benign, well circumscribed epithelial neoplasm that arises from the bronchus or the lung parenchyma. Representative examples include alveolar adenoma, papillary adenoma, and mucus gland adenoma.	UMLS:C0345964|SCTID:254642004|NCIT:C4455|DOID:5386	mondo.json	lung adenoma|adenoma of lung|pulmonary adenoma|adenoma of the lung	http://purl.obolibrary.org/obo/MONDO_0003422	NCIT:C4455|http://identifiers.org/snomedct/254642004|UMLS:C0345964|DOID:5386	
HGNC:9460	biolink:NamedThing	PROZ			mondo.json		http://identifiers.org/hgnc/9460		
MONDO:0003423	biolink:Disease	middle ear adenoma	A benign, well-circumscribed glandular neoplasm that arises from the middle ear and may exhibit neuroendocrine differentiation. It usually presents with conductive hearing loss.	NCIT:C6834|UMLS:C1334759|SCTID:734078009|DOID:5387	mondo.json	adenoma of middle ear|middle ear adenoma|adenoma of the middle ear	http://purl.obolibrary.org/obo/MONDO_0003423	NCIT:C6834|UMLS:C1334759|DOID:5387|http://identifiers.org/snomedct/734078009	
MONDO:0003424	biolink:Disease	oncocytic adenoma	A benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic adenomas of the thyroid gland, parathyroid gland, and pituitary gland.	UMLS:C1510502|ICDO:8290/0|EFO:1001079|NCIT:C3759|DOID:5389	mondo.json	oncocytic adenoma|follicular adenoma, oxyphilic cell|oncocytoma|oxyphilic adenoma	http://purl.obolibrary.org/obo/MONDO_0003424	NCIT:C3759|DOID:5389|UMLS:C1510502	
MONDO:0015409	biolink:Disease	isolated congenital syngnathia	Isolated congenital syngnathia is a very rare developmental defect during embryogenesis characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thive, malnutrition and/or temporomandibular joint ankylosis.	SCTID:763317002|Orphanet:141214	mondo.json	isolated congenital maxillomandibular fusion	http://purl.obolibrary.org/obo/MONDO_0015409	http://identifiers.org/snomedct/763317002|Orphanet:141214	ordo_malformation_syndrome
MONDO:0003420	biolink:Disease	bile duct cystadenoma	An epithelial, usually multiloculated neoplasm arising from the intrahepatic or extrahepatic bile ducts. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid.	UMLS:C0334285|DOID:5384|NCIT:C4129|ICDO:8161/0	mondo.json	bile duct mucinous cystic neoplasm|cystadenoma of the bile duct|bile duct cystadenoma|cystadenoma of bile duct|bile duct cystadenoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003420	UMLS:C0334285|DOID:5384|NCIT:C4129	
MONDO:0015408	biolink:Disease	diffuse lymphatic malformation	A rare developmental defect during embryogenesis characterized by multifocal dilated lymphatic vessels involving multiple organs and tissues. Patients mostly present in infancy and childhood. Clinical course and prognosis depend on the affected sites and extent of the condition, deterioration of lung function being a major cause of morbidity and mortality.	Orphanet:141209|SCTID:703298001|UMLS:C0343090	mondo.json	disseminated lymphangiomatosis|diffuse lymphangioma|disseminated lymphangioma|diffuse lymphangiomatosis|generalized lymphatic anomaly|disseminated lymphatic malformation|Gla	http://purl.obolibrary.org/obo/MONDO_0015408	http://identifiers.org/snomedct/703298001|Orphanet:141209|UMLS:C0343090	ordo_clinical_subtype
NCBITaxon:1824	biolink:OrganismalEntity	Nocardia asteroides		GC_ID:11	mondo.json	Asteroides asteroides|Cladothrix asteroides|Discomyces asteroides|Actinomyces eppinger|Actinomyces eppingeri|Actinomyces asteroides|Proactinomyces asteroides|Oospora asteroides|Streptotrix asteroides|Streptothrix eppingerii	http://purl.obolibrary.org/obo/NCBITaxon_1824		
MONDO:0015414	biolink:Disease	paramedian nasal cleft	Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.	ICD9:748.1|SCTID:204521002|Orphanet:141242	mondo.json	alar rim cleft|cleft nose|alar cleft|isolated coloboma of the nose|Tessier number 1 cleft|isolated cleft of the ala nasi	http://purl.obolibrary.org/obo/MONDO_0015414	http://identifiers.org/snomedct/204521002|Orphanet:141242	ordo_morphological_anomaly
UBERON:0000060	biolink:AnatomicalEntity	anatomical wall			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000060		
MONDO:0015413	biolink:Disease	median cleft of the upper lip and maxilla	Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated.	Orphanet:141239	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015413	Orphanet:141239	ordo_morphological_anomaly
UBERON:0000061	biolink:AnatomicalEntity	anatomical structure	Material anatomical entity that is a single connected structure with inherent 3D shape generated by coordinated expression of the organism's own genome.		mondo.json	connected biological structure|biological structure	http://purl.obolibrary.org/obo/UBERON_0000061		
MONDO:0015412	biolink:Disease	median facial cleft		Orphanet:141234	mondo.json	Tessier number 0-14 and 30 facial cleft|Midline facial cleft	http://purl.obolibrary.org/obo/MONDO_0015412	Orphanet:141234	disease_grouping|ordo_group_of_disorders
UBERON:0000062	biolink:AnatomicalEntity	organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000062		
UBERON:0000063	biolink:AnatomicalEntity	organ subunit			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000063		
MONDO:0015411	biolink:Disease	facial cleft	A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences.	Orphanet:141229|NCIT:C124510|SCTID:92821006	mondo.json	craniofacial cleft|prosoposchisis|cleft face	http://purl.obolibrary.org/obo/MONDO_0015411	NCIT:C124510|Orphanet:141229|http://identifiers.org/snomedct/92821006	disease_grouping|ordo_group_of_disorders
MONDO:0015418	biolink:Disease	lateral facial cleft		Orphanet:141269	mondo.json	Tessier number 7 facial cleft|transverse facial cleft	http://purl.obolibrary.org/obo/MONDO_0015418	Orphanet:141269	disease_grouping|ordo_group_of_disorders
MONDO:0015417	biolink:Disease	Tessier number 6 facial cleft		Orphanet:141265	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015417	Orphanet:141265	ordo_morphological_anomaly
MONDO:0015416	biolink:Disease	Tessier number 5 facial cleft		Orphanet:141261	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015416	Orphanet:141261	ordo_morphological_anomaly
MONDO:0015415	biolink:Disease	oblique facial cleft		Orphanet:141253	mondo.json	Orbitofacial cleft	http://purl.obolibrary.org/obo/MONDO_0015415	Orphanet:141253	disease_grouping|ordo_group_of_disorders
UBERON:0000068	biolink:AnatomicalEntity	embryo stage	A life cycle stage that starts with fertilization and ends with the fully formed embryo.		mondo.json	embryonic stage|embryogenesis	http://purl.obolibrary.org/obo/UBERON_0000068		
HGNC:9461	biolink:NamedThing	PRPH			mondo.json		http://identifiers.org/hgnc/9461		
HGNC:9462	biolink:NamedThing	PRPS1			mondo.json		http://identifiers.org/hgnc/9462		
MONDO:0015410	biolink:Disease	nasal dorsum fistula/cyst		Orphanet:141219	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015410	Orphanet:141219	ordo_morphological_anomaly
UBERON:0000064	biolink:AnatomicalEntity	organ part			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000064		
MONDO:0003418	biolink:Disease	obsolete bile duct adenoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003418		
MONDO:0003419	biolink:Disease	Bartholin gland adenoma	A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of clustered glands and tubules lined by mucin-secreting epithelial cells.	DOID:5382|NCIT:C40299|UMLS:C1511048	mondo.json	Bartholin gland adenoma|major vestibular gland adenoma|Bartholin's gland adenoma	http://purl.obolibrary.org/obo/MONDO_0003419	NCIT:C40299|DOID:5382|UMLS:C1511048	
UBERON:0000065	biolink:AnatomicalEntity	respiratory tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000065		
UBERON:0000066	biolink:AnatomicalEntity	fully formed stage	The stage of development at which the animal is fully formed, including immaturity and maturity. Includes both sexually immature stage, and adult stage.		mondo.json	fully formed animal stage|adult stage|juvenile-adult stage	http://purl.obolibrary.org/obo/UBERON_0000066		
CHEBI:23443	biolink:ChemicalSubstance	cyclic amide			mondo.json	cyclic amides|cyclic amide	http://purl.obolibrary.org/obo/CHEBI_23443		
MONDO:0003436	biolink:Disease	obsolete lung oat cell carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003436		
MONDO:0003437	biolink:Disease	occult small cell lung carcinoma	A small cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.	NCIT:C6683|DOID:5414|UMLS:C1335099	mondo.json	lung occult small cell carcinoma|occult small cell carcinoma of lung|occult small cell carcinoma of the lung|occult small cell lung carcinoma	http://purl.obolibrary.org/obo/MONDO_0003437	UMLS:C1335099|DOID:5414|NCIT:C6683	
MONDO:0003438	biolink:Disease	combined small cell lung carcinoma	A morphologic variant of small cell lung carcinoma in combination with a non-small cell carcinoma.	UMLS:C1333125|ONCOTREE:CSCLC|NCIT:C9137|ICDO:8045/3|DOID:5421	mondo.json	combined small and large cell lung carcinoma|small cell and large cell lung carcinoma|combined type small cell lung carcinoma|combined small cell lung carcinoma|CSCLC|combined type small cell carcinoma of lung|mixed small cell and large cell carcinoma of lung|combined small cell carcinoma of the lung|mixed small cell and large cell carcinoma of the lung|combined small cell and large cell lung carcinoma|combined small cell lung cancer|combined small and large cell lung cancer|mixed small cell and large cell lung carcinoma|lung combined type small cell carcinoma|combined small cell carcinoma of lung|small cell and large cell carcinoma of lung|combined type small cell carcinoma of the lung|small cell and large cell carcinoma of the lung	http://purl.obolibrary.org/obo/MONDO_0003438	UMLS:C1333125|NCIT:C9137|DOID:5421	
FOODON:03000001	biolink:NamedThing	food peeling process	peeling" is the process of removing the outer covering, layer or skin from a fruit, vegetable, or plant or animal (such as a shrimp).		mondo.json		http://purl.obolibrary.org/obo/FOODON_03000001		
MONDO:0003439	biolink:Disease	urinary bladder villous adenoma	An exophytic glandular neoplasm of the bladder, morphologically similar to its intestinal counterpart. It often coexists with in situ or infiltrating bladder adenocarcinoma.	UMLS:C1336893|DOID:5427|NCIT:C7414	mondo.json	villous adenoma of urinary bladder|villous adenoma of the urinary bladder|bladder villous adenoma|urinary bladder villous adenoma	http://purl.obolibrary.org/obo/MONDO_0003439	UMLS:C1336893|DOID:5427|NCIT:C7414	
GO:0048754	biolink:NamedThing	branching morphogenesis of an epithelial tube	The process in which the anatomical structures of branches in an epithelial tube are generated and organized. A tube is a long hollow cylinder.		mondo.json	tubulogenesis	http://purl.obolibrary.org/obo/GO_0048754		
MONDO:0003432	biolink:Disease	strabismus	Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected.	ICD9:378.7|DOID:540|ICD9:378.40|UMLS:C0038379|NCIT:C35040|MESH:D013285|SCTID:22066006	mondo.json	strabismus|squint	http://purl.obolibrary.org/obo/MONDO_0003432	http://identifiers.org/snomedct/22066006|NCIT:C35040|http://identifiers.org/mesh/D013285|UMLS:C0038379|DOID:540	
MONDO:0003433	biolink:Disease	water-clear cell adenoma	A rare parathyroid gland adenoma composed of neoplastic cells with abundant cytoplasm. The cytoplasm of the neoplastic cells is usually not entirely clear, and is often variably vacuolated, foamy, and granular.	NCIT:C4155|DOID:5401|ICDO:8322/0|UMLS:C0334321	mondo.json	water-clear cell adenoma (morphologic abnormality)|parathyroid gland water-clear cell adenoma	http://purl.obolibrary.org/obo/MONDO_0003433	UMLS:C0334321|DOID:5401|NCIT:C4155	
MONDO:0003434	biolink:Disease	vaginal adenoma	A glandular epithelial neoplasm that arises from the vagina and shows intestinal differentiation.	UMLS:C1519913|DOID:5402|NCIT:C40256	mondo.json	vaginal adenoma|vagina adenoma	http://purl.obolibrary.org/obo/MONDO_0003434	NCIT:C40256|DOID:5402|UMLS:C1519913	
MONDO:0003435	biolink:Disease	microcystic adenoma	A benign epithelial neoplasm characterized by a microcystic pattern. The cystic spaces are lined by small cuboidal cells without evidence of significant cytologic atypia.	NCIT:C3685|DOID:5403|UMLS:C0205648|ICDO:8202/0	mondo.json	microcystic adenoma|microcystic adenoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003435	NCIT:C3685|DOID:5403|UMLS:C0205648	
UBERON:0014699	biolink:AnatomicalEntity	extraembryonic venous system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014699		
MONDO:0003430	biolink:Disease	prolactin producing pituitary tumor	An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces prolactin.	NCIT:C7910|UMLS:C0278863|DOID:5396	mondo.json	prolactin secreting neoplasm of the pituitary|prolactin secreting pituitary gland tumor|prolactin secreting neoplasm of pituitary|prolactin producing pituitary gland neoplasm|prolactin secreting pituitary tumor|prolactin-producing pituitary gland tumor|prolactin producing neoplasm of the pituitary gland|PRL producing pituitary gland neoplasm|prolactin secreting pituitary neoplasm|prolactin-producing pituitary gland neoplasm|malignant prolactinoma|prolactin producing neoplasm of pituitary gland|prolactin secreting tumor of pituitary|prolactin producing tumor of the pituitary gland|malignant prolactin producing neoplasm of pituitary gland|prolactin producing neoplasm of the pituitary|prolactin producing pituitary gland tumor|prolactin secreting pituitary gland neoplasm|prolactin producing neoplasm of pituitary|prolactin producing tumor of pituitary gland|prolactin producing pituitary tumour|prolactin producing pituitary tumor|prolactin producing tumor of the pituitary|prolactin producing tumor of pituitary|prolactin secreting tumor of the pituitary gland|prolactin secreting tumor of pituitary gland|prolactin secreting tumor of the pituitary|prolactin secreting neoplasm of the pituitary gland|prolactin secreting neoplasm of pituitary gland|prolactin producing pituitary neoplasm	http://purl.obolibrary.org/obo/MONDO_0003430	DOID:5396|UMLS:C0278863|NCIT:C7910	
MONDO:0003431	biolink:Disease	lipoadenoma	An adenoma in which the neoplastic epithelial cells are admixed with adipose tissue cells.	UMLS:C0334325|NCIT:C4159|ICDO:8324/0|DOID:5398	mondo.json	adenolipoma, benign|lipoadenoma|lipoadenoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003431	DOID:5398|NCIT:C4159|UMLS:C0334325	
FOODON:03000003	biolink:NamedThing	obsolete: brown shrimp			mondo.json		http://purl.obolibrary.org/obo/FOODON_03000003		
FOODON:03000004	biolink:NamedThing	obsolete: green mud crab			mondo.json		http://purl.obolibrary.org/obo/FOODON_03000004		
UBERON:0014695	biolink:AnatomicalEntity	deep auricular artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014695		
FOODON:03000005	biolink:NamedThing	obsolete: Indian prawn			mondo.json		http://purl.obolibrary.org/obo/FOODON_03000005		
MONDO:0015403	biolink:Disease	non-involuting congenital hemangioma	Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma, which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval,purplish mark or bump that can occur on any part of the body. NICH is present from birth (congenital) and increases in size as the child grows. Unlike other hemangiomas, NICH do not disappear spontaneously (involute).	Orphanet:141179|SCTID:703295003|UMLS:C1275417|GARD:0010890	mondo.json	NICH|noninvoluting congenital hemangioma	http://purl.obolibrary.org/obo/MONDO_0015403	UMLS:C1275417|Orphanet:141179|http://identifiers.org/snomedct/703295003	gard_rare|ordo_disease
MONDO:0015402	biolink:Disease	mandibular arteriovenous malformation	Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock.	SCTID:703334000|Orphanet:141174	mondo.json	arteriovenous malformation of mandible	http://purl.obolibrary.org/obo/MONDO_0015402	http://identifiers.org/snomedct/703334000|Orphanet:141174	ordo_malformation_syndrome
MONDO:0015401	biolink:Disease	maxillary arteriovenous malformation	Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic.	Orphanet:141171|SCTID:703335004	mondo.json	arteriovenous malformation of maxilla	http://purl.obolibrary.org/obo/MONDO_0015401	http://identifiers.org/snomedct/703335004|Orphanet:141171	ordo_malformation_syndrome
MONDO:0015400	biolink:Disease	frontonasal arteriovenous malformation	Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure.	Orphanet:141168	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015400	Orphanet:141168	ordo_malformation_syndrome
MONDO:0015407	biolink:Disease	cerebrofacial arteriovenous metameric syndrome type 3		SCTID:703268008|UMLS:C3838691|UMLS:CN199502|Orphanet:141199	mondo.json	CAMS3	http://purl.obolibrary.org/obo/MONDO_0015407	UMLS:CN199502|UMLS:C3838691|http://identifiers.org/snomedct/703268008|Orphanet:141199	ordo_malformation_syndrome
MONDO:0015406	biolink:Disease	cerebrofacial arteriovenous metameric syndrome type 1		Orphanet:141194|SCTID:703267003|UMLS:CN199501|UMLS:C3840102	mondo.json	CAMS1	http://purl.obolibrary.org/obo/MONDO_0015406	UMLS:CN199501|UMLS:C3840102|Orphanet:141194|http://identifiers.org/snomedct/703267003	ordo_malformation_syndrome
MONDO:0015405	biolink:Disease	cerebrofacial arteriovenous metameric syndrome	A disorder characterized by vascular malformations that encompasses a spectrum of phenotypic expression involving arteriovenous malformations (AVMs) of the cerebral, orbital, and facial region.	UMLS:C3839265|UMLS:CN199500|Orphanet:141189|SCTID:703266007	mondo.json	CAMS	http://purl.obolibrary.org/obo/MONDO_0015405	UMLS:CN199500|Orphanet:141189|http://identifiers.org/snomedct/703266007|UMLS:C3839265	disease_grouping|ordo_group_of_disorders
CHEBI:35427	biolink:ChemicalSubstance	ortho-fused polycyclic hydrocarbon			mondo.json	ortho-fused polycyclic hydrocarbons|ortho-fused polycyclic hydrocarbon	http://purl.obolibrary.org/obo/CHEBI_35427		
MONDO:0015404	biolink:Disease	rapidly involuting congenital hemangioma	Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed in utero and differ from non-involuting congenital haemangiomas (NICH) mainly because they undergo rapid postnatal involution.	UMLS:C1275421|SCTID:703294004|Orphanet:141184	mondo.json	rich	http://purl.obolibrary.org/obo/MONDO_0015404	UMLS:C1275421|Orphanet:141184|http://identifiers.org/snomedct/703294004	ordo_disease
UBERON:0000057	biolink:AnatomicalEntity	urethra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000057		
UBERON:0000058	biolink:AnatomicalEntity	duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000058		
HGNC:9475	biolink:NamedThing	PRSS1			mondo.json		http://identifiers.org/hgnc/9475		
UBERON:0000059	biolink:AnatomicalEntity	large intestine			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000059		
UBERON:0024045	biolink:AnatomicalEntity	white matter of the cerebellar cortex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0024045		
MONDO:0003429	biolink:Disease	functioning pituitary gland adenoma	A hormone producing pituitary gland adenoma, associated with a hormonal syndrome.	NCIT:C8388|Orphanet:314753|DOID:5395|UMLS:C0854486	mondo.json	secretory adenoma of the pituitary|secreting pituitary adenoma|secretory adenoma of pituitary|functioning adenoma of the pituitary gland|functioning pituitary adenoma|functioning adenoma of pituitary gland|functioning adenoma of the pituitary|functioning adenoma of pituitary|secretory adenoma of the pituitary gland|functioning pituitary gland adenoma (benign)|functioning pituitary gland adenoma|endocrine active pituitary adenoma|secretory pituitary gland adenoma|secretory pituitary adenoma|secretory adenoma of pituitary gland	http://purl.obolibrary.org/obo/MONDO_0003429	Orphanet:314753|DOID:5395|NCIT:C8388|UMLS:C0854486	ordo_group_of_disorders|disease_grouping
UBERON:0000053	biolink:AnatomicalEntity	macula lutea			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000053		
HGNC:9479	biolink:NamedThing	LONP1			mondo.json		http://identifiers.org/hgnc/9479		
HGNC:9476	biolink:NamedThing	HTRA1			mondo.json		http://identifiers.org/hgnc/9476		
UBERON:0000055	biolink:AnatomicalEntity	vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000055		
HGNC:9477	biolink:NamedThing	PRSS12			mondo.json		http://identifiers.org/hgnc/9477		
UBERON:0000056	biolink:AnatomicalEntity	ureter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000056		
MONDO:0003403	biolink:Disease	testicular non-seminomatous germ cell cancer	A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor.	DOID:5345|NCIT:C5027|UMLS:C1334625	mondo.json	testicular non-seminomatous germ cell cancer|malignant non-seminomatous germ cell cancer of testis|malignant testicular non-seminomatous germ cell tumor|malignant non-seminomatous germ cell cancer of the testis|testicular non-seminomatous germ cell tumor, malignant|testicular germ cell tumor non-seminomatous, malignant|malignant non-seminomatous germ cell tumor of the testis|malignant testicular non-seminomatous germ cell neoplasm|testicular non-seminomatous malignant germ cell neoplasm|malignant non-seminomatous germ cell neoplasm of testis|malignant non-seminomatous germ cell tumor of testis|malignant non-seminomatous germ cell neoplasm of the testis	http://purl.obolibrary.org/obo/MONDO_0003403	NCIT:C5027|UMLS:C1334625|DOID:5345	
GO:0048762	biolink:NamedThing	mesenchymal cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal cell. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types.		mondo.json		http://purl.obolibrary.org/obo/GO_0048762		
MONDO:0003404	biolink:Disease	adult yolk sac tumor	A yolk sac tumor that occurs in an adult.	UMLS:C1332221|NCIT:C27241|DOID:5348	mondo.json	adult yolk Sac neoplasm|yolk sac tumor of adults|adult endodermal sinus tumor|adult endodermal sinus neoplasm|adult yolk Sac tumor|yolk Sac tumor	http://purl.obolibrary.org/obo/MONDO_0003404	NCIT:C27241|UMLS:C1332221|DOID:5348	
UBERON:0014680	biolink:AnatomicalEntity	distal interphalangeal joint of digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014680		
MONDO:0003405	biolink:Disease	adult central nervous system germ cell tumor	A germ cell tumor of the central nervous system occurring in adults.	UMLS:C0280796|NCIT:C6285|DOID:5349	mondo.json	central nervous system germ cell tumor of adults|germ cell tumor of the adult central nervous system|adult CNS germ cell neoplasm|germ cell neoplasm of the adult CNS|germ cell neoplasm of adult CNS|adult CNS germ cell tumor|adult central nervous system germ cell tumor|germ cell neoplasm of adult central nervous system|central nervous system germ cell tumor|germ cell neoplasm of the adult central nervous system|germ cell tumor of the adult CNS|germ cell tumor of adult CNS|central nervous system adult germ cell tumor|adult central nervous system germ cell neoplasm|germ cell tumor of adult central nervous system	http://purl.obolibrary.org/obo/MONDO_0003405	NCIT:C6285|UMLS:C0280796|DOID:5349	
MONDO:0003406	biolink:Disease	sleep-wake disorder	Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle.	DOID:535|ICD10CM:G47|EFO:0008568|ICD9:307.40|SCTID:39898005|ICD9:307.49|ICD9:307.4|MESH:D012893	mondo.json	sleep disorder|disorders of the sleep-wake schedule|short sleep phenotypes|sleep-related neurogenic Tachypneas|sleep wake disorder|wake disorder, sleep|phenotype, short sleep|Subwakefullness syndrome|sleeper syndromes, long|syndromes, long sleeper|disturbed nyctohemeral rhythm|syndrome, long sleeper|syndrome, Subwakefullness|syndromes, Subwakefullness|disorders, sleep wake|sleep phenotypes, short|phenotypes, short sleep|disorder of sleep-wake cycle|disorder, sleep|non-organic sleep disorder|sleeper syndromes, short|short sleeper syndromes|long sleeper syndromes|long sleeper syndrome|disorder, sleep wake|neurogenic tachypnea, sleep-related|short sleeper syndrome|disorders, sleep|Tachypneas, sleep-related neurogenic|tachypnea, sleep-related neurogenic|neurogenic Tachypneas, sleep-related|sleep related neurogenic tachypnea|sleeper syndrome, long|wake disorders, sleep|Subwakefullness syndromes|sleep-related neurogenic tachypnea|syndrome, short sleeper|short sleep phenotype|sleeper syndrome, short|circadian dysregulation|sleep disorders|syndromes, short sleeper|disorder of sleep-wake schedule	http://purl.obolibrary.org/obo/MONDO_0003406	http://identifiers.org/mesh/D012893|http://purl.bioontology.org/ontology/ICD10CM/G47|http://identifiers.org/snomedct/39898005|DOID:535	
UBERON:0000039	biolink:AnatomicalEntity	follicular antrum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000039		
MONDO:0003400	biolink:Disease	childhood endodermal sinus tumor	A yolk sac tumor that occurs during childhood.	DOID:5342|UMLS:C1333016|NCIT:C27364	mondo.json	childhood yolk Sac tumor|childhood endodermal sinus tumor|childhood endodermal sinus neoplasm|pediatric yolk Sac neoplasm|pediatric yolk Sac tumor|pediatric endodermal sinus neoplasm|childhood yolk Sac neoplasm	http://purl.obolibrary.org/obo/MONDO_0003400	NCIT:C27364|UMLS:C1333016|DOID:5342	
MONDO:0003401	biolink:Disease	central nervous system endodermal sinus tumor	A yolk sac tumor that arises from the central nervous system and occurs during childhood.	DOID:5343|NCIT:C6209	mondo.json	central nervous system endodermal sinus tumor|central nervous system yolk Sac tumor|central nervous system yolk sac tumor|childhood central nervous system yolk Sac neoplasm|yolk Sac tumor of the CNS|childhood central nervous system endodermal sinus neoplasm|childhood central nervous system endodermal sinus tumor|pediatric central nervous system endodermal sinus neoplasm|pediatric central nervous system yolk Sac tumor|childhood central nervous system yolk Sac tumor|pediatric central nervous system yolk Sac neoplasm	http://purl.obolibrary.org/obo/MONDO_0003401	NCIT:C6209|DOID:5343	
MONDO:0003402	biolink:Disease	testicular yolk sac tumor	A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation.	DOID:5344|NCIT:C8000|GARD:0000348|EFO:1000574|UMLS:C0279708|ONCOTREE:TYST	mondo.json	yolk Sac neoplasm of the testis|testicular yolk Sac neoplasm|Orchidoblastoma|yolk Sac tumor of testis|yolk Sac tumor of the testis|testicular endodermal sinus tumor|endodermal-sinus tumor|endodermal sinus neoplasm of testis|testicular endodermal sinus neoplasm|endodermal sinus neoplasm of the testis|endodermal sinus tumor of testis|testis yolk sac tumor|endodermal sinus tumor of the testis|testicular yolk sac tumor|yolk sac tumor|yolk Sac neoplasm of testis	http://purl.obolibrary.org/obo/MONDO_0003402	DOID:5344|UMLS:C0279708|NCIT:C8000	gard_rare
UBERON:0014687	biolink:AnatomicalEntity	temporal sulcus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014687		
UBERON:0014686	biolink:AnatomicalEntity	angular vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014686		
NCBITaxon:1809	biolink:OrganismalEntity	Mycobacterium ulcerans		PMID:12089250|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1809		
UBERON:0000047	biolink:AnatomicalEntity	simple eye			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000047		
HGNC:9483	biolink:NamedThing	PRSS2			mondo.json		http://identifiers.org/hgnc/9483		
UBERON:0000042	biolink:AnatomicalEntity	serous membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000042		
UBERON:0000043	biolink:AnatomicalEntity	tendon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000043		
UBERON:0000045	biolink:AnatomicalEntity	ganglion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000045		
MONDO:0003414	biolink:Disease	skin pilomatrix carcinoma	A very rare, locally aggressive, malignant neoplasm of the hair follicle. The majority of the cases arise de novo, however malignant transformation from a pre-existing pilomatricoma has been reported. It usually presents as a solitary nodule in the head and neck, upper extremities, or buttocks. Morphologically, it is characterized by the presence of aggregates of basaloid cells infiltrating the dermis. Masses of ghost cells are present in the cellular aggregates. Complete surgical excision is the treatment of choice. If it is not completely removed, it usually recurs, but it rarely metastasizes to distant anatomic sites.	DOID:5376|ICDO:8110/3|NCIT:C4114|Orphanet:499182|UMLS:C0585475|SCTID:307610008	mondo.json	Pilomatrical carcinoma|pilomatrix carcinoma of the skin|pilomatrix skin carcinoma|pilomatrix carcinoma|calcified epithelial carcinoma of Malherbe|pilomatrix carcinoma of skin|invasive pilomatrixoma|pilomatricoma, malignant|malignant pilomatricoma|matrical carcinoma|Trichomatrical carcinoma|calcifying epitheliocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003414	Orphanet:499182|NCIT:C4114|http://identifiers.org/snomedct/307610008|UMLS:C0585475|DOID:5376	ordo_disease
GO:0046110	biolink:NamedThing	xanthine metabolic process	The chemical reactions and pathways involving xanthine, 2,6-dihydroxypurine, a purine formed in the metabolic breakdown of guanine but not present in nucleic acids.		mondo.json	xanthine metabolism	http://purl.obolibrary.org/obo/GO_0046110		
MONDO:0003415	biolink:Disease	obsolete hemoglobin d disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003415		
MONDO:0003416	biolink:Disease	obsolete hemoglobin E disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003416		
MONDO:0003417	biolink:Disease	internuclear ophthalmoplegia		UMLS:C0152134|ICD9:378.86|ICD10CM:H51.2|SCTID:49823009|DOID:538	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003417	UMLS:C0152134|DOID:538|http://purl.bioontology.org/ontology/ICD10CM/H51.2|http://identifiers.org/snomedct/49823009	
UBERON:0014671	biolink:AnatomicalEntity	distal interphalangeal joint of manural digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014671		
MONDO:0003410	biolink:Disease	Wolffian duct adenocarcinoma	A cervical adenocarcinoma that arises from mesonephric remnants. It is usually characterized by the presence of tubular glands lined by cuboidal epithelial cells.	NCIT:C40254|DOID:5368|UMLS:C1516419	mondo.json	mesonephric duct adenocarcinoma|Wolffian duct adenocarcinoma|cervical mesonephric adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003410	UMLS:C1516419|NCIT:C40254|DOID:5368	
MONDO:0003411	biolink:Disease	breast hemangiopericytoma	A hemangiopericytoma arising from the breast.	DOID:5370|UMLS:C1511313|NCIT:C40396	mondo.json	breast hemangiopericytoma|breast spindle cell tumor	http://purl.obolibrary.org/obo/MONDO_0003411	NCIT:C40396|DOID:5370|UMLS:C1511313	
UBERON:0000029	biolink:AnatomicalEntity	lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000029		
MONDO:0003412	biolink:Disease	retroperitoneal hemangiopericytoma	A benign or malignant hemangiopericytoma arising from the retroperitoneum.	UMLS:C1335777|DOID:5373|NCIT:C5386	mondo.json	retroperitoneal space hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0003412	NCIT:C5386|UMLS:C1335777|DOID:5373	
HGNC:9490	biolink:NamedThing	TMPRSS15			mondo.json		http://identifiers.org/hgnc/9490		
CHEBI:23423	biolink:ChemicalSubstance	pseudohalogen oxoacid			mondo.json		http://purl.obolibrary.org/obo/CHEBI_23423		
MONDO:0003413	biolink:Disease	hair follicle neoplasm	A benign or malignant neoplasm arising from the hair follicle.	NCIT:C7367|DOID:5375|UMLS:C0859920	mondo.json	hair follicle neoplasm|hair matrix neoplasm|neoplasm of the hair follicle|hair follicle neoplasm (disease)|hair matrix tumor|tumor of hair follicle|neoplasm of hair follicle|hair matrix tumour|hair follicle tumor	http://purl.obolibrary.org/obo/MONDO_0003413	UMLS:C0859920|DOID:5375|NCIT:C7367	
CHEBI:35406	biolink:ChemicalSubstance	oxoanion	An oxoanion is an anion derived from an oxoacid by loss of hydron(s) bound to oxygen.		mondo.json	oxoacid anions|oxoanions|oxoanion	http://purl.obolibrary.org/obo/CHEBI_35406		
NCBITaxon:1817	biolink:OrganismalEntity	Nocardia		PMID:7537058|GC_ID:11|PMID:7547284	mondo.json	Micropolyspora	http://purl.obolibrary.org/obo/NCBITaxon_1817		
GO:0048770	biolink:NamedThing	pigment granule	A small, subcellular membrane-bounded vesicle containing pigment and/or pigment precursor molecules. Pigment granule biogenesis is poorly understood, as pigment granules are derived from multiple sources including the endoplasmic reticulum, coated vesicles, lysosomes, and endosomes.		mondo.json		http://purl.obolibrary.org/obo/GO_0048770		
GO:0048771	biolink:NamedThing	tissue remodeling	The reorganization or renovation of existing tissues. This process can either change the characteristics of a tissue such as in blood vessel remodeling, or result in the dynamic equilibrium of a tissue such as in bone remodeling.		mondo.json		http://purl.obolibrary.org/obo/GO_0048771		
UBERON:0014675	biolink:AnatomicalEntity	distal interphalangeal joint of pedal digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014675		
UBERON:0000030	biolink:AnatomicalEntity	lamina propria			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000030		
UBERON:0000038	biolink:AnatomicalEntity	follicular fluid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000038		
UBERON:0000031	biolink:AnatomicalEntity	lamina propria of trachea			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000031		
MONDO:0003407	biolink:Disease	obsolete ovarian yolk sac tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003407		
MONDO:0003408	biolink:Disease	ovarian primitive germ cell tumor	A malignant tumor that arises from the ovary and is characterized by the presence of malignant germ cell components but lacks a teratoma component.	NCIT:C39986|DOID:5351|UMLS:C1518727	mondo.json	ovarian primitive germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0003408	UMLS:C1518727|NCIT:C39986|DOID:5351	
SO:0001411	biolink:SequenceFeature	biological_region	A region defined by its disposition to be involved in a biological process.		mondo.json	INSDC_note:biological_region|INSDC_misc_feature|biological region	http://purl.obolibrary.org/obo/SO_0001411		
MONDO:0003409	biolink:Disease	colonic disorder	Pathological processes in the colon region of the large intestine (intestine, large).	DOID:5353|UMLS:C0009373|MESH:D003108|SCTID:128524007	mondo.json	colon disease|disease or disorder of colon|disease of colon|colon disease or disorder|disorder of colon|colon disorder	http://purl.obolibrary.org/obo/MONDO_0003409	http://identifiers.org/snomedct/128524007|http://identifiers.org/mesh/D003108|UMLS:C0009373|DOID:5353	
HGNC:9498	biolink:NamedThing	PSAP			mondo.json		http://identifiers.org/hgnc/9498		
UBERON:0000033	biolink:AnatomicalEntity	head			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000033		
MONDO:0003469	biolink:Disease	epithelioid cell synovial sarcoma	A synovial sarcoma characterized by the presence of an epithelial cell component only. The epithelial cells are arranged in glandular or papillary structures.	NCIT:C4278|UMLS:C0334506|ICDO:9042/3|DOID:5494	mondo.json	epithelial sarcoma of synovium|epithelial sarcoma of the synovium|epithelioid cell sarcoma of synovium|epithelioid synovial sarcoma|epithelioid cell sarcoma of the synovium|synovial sarcoma, epithelioid cell (morphologic abnormality)|synovial sarcoma, epithelioid cell|epithelial synovial sarcoma	http://purl.obolibrary.org/obo/MONDO_0003469	DOID:5494|NCIT:C4278|UMLS:C0334506	
UBERON:0012082	biolink:AnatomicalEntity	bronchial lumen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012082		
UBERON:0012081	biolink:AnatomicalEntity	patella pre-cartilage condensation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012081		
UBERON:0012080	biolink:AnatomicalEntity	patella cartilage element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012080		
MONDO:0003465	biolink:Disease	fibrous synovial sarcoma		NCIT:C6533|UMLS:C1333616|DOID:5484	mondo.json	fibrous sarcoma of the synovium|fibrous sarcoma of synovium	http://purl.obolibrary.org/obo/MONDO_0003465	UMLS:C1333616|DOID:5484|NCIT:C6533	
MONDO:0003466	biolink:Disease	spindle cell synovial sarcoma	A synovial sarcoma characterized by the presence of a spindle cell component only.	NCIT:C4277|DOID:5487|ICDO:9041/3|UMLS:C0334505	mondo.json	synovial sarcoma with spindle cell components|synovial sarcoma, monophasic fibrous	http://purl.obolibrary.org/obo/MONDO_0003466	DOID:5487|NCIT:C4277|UMLS:C0334505	
UBERON:0012085	biolink:AnatomicalEntity	lumen of tertiary bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012085		
MONDO:0003467	biolink:Disease	mediastinum synovial sarcoma	A synovial sarcoma arising from the mediastinum.	UMLS:C1334681|DOID:5488|NCIT:C6618	mondo.json	synovial sarcoma of the mediastinum|mediastinum synovial sarcoma (disease)|synovial sarcoma of mediastinum|mediastinal synovial sarcoma	http://purl.obolibrary.org/obo/MONDO_0003467	DOID:5488|NCIT:C6618|UMLS:C1334681	
UBERON:0012084	biolink:AnatomicalEntity	lumen of secondary bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012084		
MONDO:0003468	biolink:Disease	biphasic synovial sarcoma	A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component.	NCIT:C4279|UMLS:C0334507|ICDO:9043/3|DOID:5492	mondo.json	synovial sarcoma, biphasic (morphologic abnormality)|biphasic sarcoma of the synovium|synovial sarcoma, biphasic|biphasic sarcoma of synovium	http://purl.obolibrary.org/obo/MONDO_0003468	DOID:5492|NCIT:C4279|UMLS:C0334507	
UBERON:0012083	biolink:AnatomicalEntity	lumen of primary bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012083		
MONDO:0003461	biolink:Disease	fallopian tube serous adenofibroma	A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. The tumors are round and solitary and contain connective tissue and papillary or tubular structures lined by serous-type epithelium.	DOID:5478|NCIT:C40113|UMLS:C1517109	mondo.json	fallopian tube adenofibroma|fallopian tube serous adenofibroma|serous adenofibroma of fallopian tube	http://purl.obolibrary.org/obo/MONDO_0003461	UMLS:C1517109|NCIT:C40113|DOID:5478	
ENVO:02500001	biolink:NamedThing	desertification	A type of land degradation in which terrestrial ecosystem becomes increasingly dry, typically losing its bodies of water as well as vegetation and wildlife.		mondo.json		http://purl.obolibrary.org/obo/ENVO_02500001		
MONDO:0003462	biolink:Disease	papillary adenofibroma	A biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma.	DOID:5479|UMLS:C1377850|NCIT:C8986	mondo.json	papillary adenofibroma	http://purl.obolibrary.org/obo/MONDO_0003462	DOID:5479|NCIT:C8986|UMLS:C1377850	
ENVO:02500000	biolink:NamedThing	environmental system process	A process in which includes the components of an environmental system as participants.		mondo.json		http://purl.obolibrary.org/obo/ENVO_02500000		
MONDO:0003463	biolink:Disease	ovarian endometrioid adenofibroma	A benign neoplasm of the ovary characterized by the presence of glandular structures with endometrial-type well-differentiated cells in a fibrotic stroma.	UMLS:C2212024|NCIT:C27287|ICDO:8381/0|ICDO:8380/0|DOID:5480	mondo.json	ovarian endometrioid adenofibroma	http://purl.obolibrary.org/obo/MONDO_0003463	DOID:5480|NCIT:C27287|UMLS:C2212024	
MONDO:0003464	biolink:Disease	cystadenofibroma	A benign or borderline neoplasm that arises from the ovaries and the fallopian tubes. It is characterized by the presence of cystic glandular structures and fibrous tissue.	NCIT:C8985|MESH:D062625|NCIT:C8987|DOID:5482	mondo.json	cystadenofibroma	http://purl.obolibrary.org/obo/MONDO_0003464	DOID:5482|NCIT:C8985|http://identifiers.org/mesh/D062625	
GO:1902850	biolink:NamedThing	microtubule cytoskeleton organization involved in mitosis	Any microtubule cytoskeleton organization that is involved in mitosis.		mondo.json	microtubule cytoskeleton organisation involved in mitosis|microtubule dynamics involved in mitosis|microtubule cytoskeleton organization and biogenesis involved in mitosis	http://purl.obolibrary.org/obo/GO_1902850		
ENVO:02500005	biolink:NamedThing	land degradation	A process which diminishes the functioning of an ecosystem located on land.		mondo.json		http://purl.obolibrary.org/obo/ENVO_02500005		
ENVO:02500003	biolink:NamedThing	atmospheric process	A process which occurs within an atmosphere.		mondo.json		http://purl.obolibrary.org/obo/ENVO_02500003		
MONDO:0003460	biolink:Disease	clear cell adenofibroma	A benign neoplasm characterized by the presence of glandular structures which contain clear cells and a fibrotic stroma.	NCIT:C8985|DOID:5477|ICDO:8313/0|MESH:D062625|NCIT:C8987	mondo.json	clear cell adenofibroma|clear cell adenofibroma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003460	NCIT:C8987|DOID:5477	
MONDO:0015458	biolink:Disease	intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive.	GARD:0012487|Orphanet:1495|UMLS:CN199578|SCTID:722455002	mondo.json	Da Silva syndrome|intellectual disability - hypoplastic corpus callosum - preauricular tag	http://purl.obolibrary.org/obo/MONDO_0015458	http://identifiers.org/snomedct/722455002|Orphanet:1495|UMLS:CN199578	ordo_malformation_syndrome
MONDO:0015457	biolink:Disease	corpus callosum agenesis-double urinary collecting system syndrome		GARD:0001536|MESH:C535427|GARD:0000852|UMLS:C2930897|Orphanet:1492	mondo.json	agenesis of corpus callosum with double urinary collecting system, trigonocephaly and minor anomalies|corpus callosum agenesis - double urinary collecting system|Ben Ari Shuper Mimouni syndrome|corpus callosum agenesis double urinary collecting|Ben Ari-Shuper-Mimouni syndrome|corpus callosum agenesis-double urinary collecting system syndrome	http://purl.obolibrary.org/obo/MONDO_0015457	http://identifiers.org/mesh/C535427|UMLS:C2930897	ordo_malformation_syndrome|gard_rare
MONDO:0015456	biolink:Disease	obsolete whooping cough			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015456		
MONDO:0015455	biolink:Disease	gonococcal conjunctivitis	Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery.	GARD:0002546|ICD10EXP:H13.1*|SCTID:231858009|ICD10CM:A54.31|Orphanet:1482|NCIT:C116816|ICD10EXP:A54.3+	mondo.json	conjunctivitis gonococcal|gonococcal ophthalmia neonatorum	http://purl.obolibrary.org/obo/MONDO_0015455	Orphanet:1482|NCIT:C116816|http://identifiers.org/snomedct/231858009|http://purl.bioontology.org/ontology/ICD10CM/A54.31	gard_rare|ordo_disease
MONDO:0015459	biolink:Disease	nasopharyngeal carcinoma	A carcinoma arising from the nasopharyngeal epithelium. It includes the following types: keratinizing squamous cell carcinoma, nonkeratinizing carcinoma (differentiated and undifferentiated), basaloid squamous cell carcinoma, and papillary adenocarcinoma.	ICD9:147|NCIT:C3871|DOID:9261|UMLS:C3665551|MESH:C538339|MESH:D000077274|ICD9:147.2|MESH:D00007727|ICD9:147.9|UMLS:CN199582|UMLS:C0153396|Orphanet:150|UMLS:C0153395|UMLS:C2931822|ONCOTREE:NPC|UMLS:C0153394|MedDRA:10028793|UMLS:C0153393|SCTID:363398003|ICD9:147.3|ICD9:147.1|UMLS:C3647449|ICD9:147.0	mondo.json	NPC|malignant neoplasm of nasopharynx (disorder) [ambiguous]|cancer of the nasopharynx|malignant neoplasm of nasopharyngeal wall|carcinoma of nasopharynx|cancer of nasopharynx|nasopharyngeal throat cancer|malignant tumor of lateral wall of nasopharynx|malignant neoplasm of anterior wall of nasopharynx|nasopharyngeal carcinoma|malignant tumor of anterior wall of nasopharynx|carcinoma of the nasopharynx|nasopharynx carcinoma|primary malignant neoplasm of anterior wall of nasopharynx|malignant neoplasm of lateral wall of nasopharynx|malignant neoplasm of nasopharynx|malignant nasopharyngeal tumor|malignant neoplasm of roof of nasopharynx|malignant tumor of posterior wall of nasopharynx|malignant neoplasm of superior wall of nasopharynx|nasopharyngeal cancer|malignant neoplasm of other specified sites of nasopharynx|squamous cell carcinoma of the nasopharynx|malignant neoplasm of posterior wall of nasopharynx	http://purl.obolibrary.org/obo/MONDO_0015459	NCIT:C3871|UMLS:C3665551|UMLS:C3647449|Orphanet:150|http://identifiers.org/snomedct/363398003|http://identifiers.org/mesh/D00007727|UMLS:CN199582|http://identifiers.org/mesh/D000077274|DOID:9261|UMLS:C0153393|UMLS:C0153394|UMLS:C0153395|UMLS:C0153396|UMLS:C2931822	ordo_disease
MONDO:0015450	biolink:Disease	triatrial heart	A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities.	Orphanet:1463|ICD9:746.82|SCTID:55510008|NCIT:C84651|GARD:0006194	mondo.json	Cor triatriatum	http://purl.obolibrary.org/obo/MONDO_0015450	NCIT:C84651|Orphanet:1463|http://identifiers.org/snomedct/55510008	ordo_group_of_disorders|disease_grouping
MONDO:0015454	biolink:Disease	multiple carboxylase deficiency	Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay.	DOID:857|MESH:D009100|Orphanet:148|UMLS:C0026755|ICD10CM:D81.819|MedDRA:10028176|GARD:0003824	mondo.json	MCD|multiple carboxylase deficiency	http://purl.obolibrary.org/obo/MONDO_0015454	http://purl.bioontology.org/ontology/ICD10CM/D81.819|Orphanet:148|UMLS:C0026755|DOID:857|http://identifiers.org/mesh/D009100	disease_grouping|ordo_group_of_disorders
GO:0097711	biolink:NamedThing	ciliary basal body-plasma membrane docking	The docking of a cytosolic centriole/basal body to the plasma membrane via the ciliary transition fibers. In some species this may happen via an intermediate step, by first docking to the ciliary vesicle via the ciliary transition fibers. The basal body-ciliary vesicle then relocates to the plasma membrane, followed by the ciliary vesicle fusing with the plasma membrane, effectively attaching the basal body to the plasma membrane.		mondo.json	anchoring of the basal body to the plasma membrane|ciliary basal body docking	http://purl.obolibrary.org/obo/GO_0097711		
MONDO:0015453	biolink:Disease	Cogan syndrome	Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases.	UMLS:CN199560|GARD:0001421|SCTID:405810005|MESH:D055952|Orphanet:1467|DOID:0060216|MedDRA:10056667	mondo.json	Cogan's syndrome|Cogan syndrome|diffuse interstitual keratitis	http://purl.obolibrary.org/obo/MONDO_0015453	Orphanet:1467|http://identifiers.org/mesh/D055952|UMLS:CN199560|DOID:0060216|http://identifiers.org/snomedct/405810005	gard_rare|ordo_disease
GO:0097712	biolink:NamedThing	vesicle targeting, trans-Golgi to periciliary membrane compartment	The process in which vesicles formed at the trans-Golgi network are directed to the plasma membrane surrounding the base of the cilium, including the ciliary pocket, mediated by molecules at the vesicle membrane and target membrane surfaces.		mondo.json		http://purl.obolibrary.org/obo/GO_0097712		
MONDO:0015452	biolink:Disease	Coffin-Siris syndrome	Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.	NCIT:C35321|Orphanet:1465|MESH:C536436|GARD:0006124|DOID:1925|OMIMPS:135900|SCTID:10007009|ICD9:759.89|UMLS:C0265338	mondo.json	fifth digit syndrome|dwarfism-onychodysplasia|short stature-onychodysplasia.|Coffin-Siris syndrome|CSS|intellectual disability with absent fifth fingernail and terminal phalanx	http://purl.obolibrary.org/obo/MONDO_0015452	Orphanet:1465|UMLS:C0265338|https://omim.org/phenotypicSeries/PS135900|http://identifiers.org/mesh/C536436|http://identifiers.org/snomedct/10007009|DOID:1925|NCIT:C35321	ordo_malformation_syndrome
MONDO:0015451	biolink:Disease	univentricular heart	Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities.	Orphanet:1464|ICD9:746.89|MedDRA:10045545|SCTID:253283000|MESH:D000080039	mondo.json	Double inlet left ventricle	http://purl.obolibrary.org/obo/MONDO_0015451	http://identifiers.org/snomedct/253283000|http://identifiers.org/mesh/D000080039|Orphanet:1464	ordo_morphological_anomaly
UBERON:0012071	biolink:AnatomicalEntity	palate bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012071		
UBERON:0012070	biolink:AnatomicalEntity	palatal tooth			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012070		
MONDO:0003476	biolink:Disease	clear cell ependymoma	An ependymoma, often supratentorial in location, characterized by the presence of ependymal cells with a perinuclear halo.	ONCOTREE:CCE|NCIT:C4714|DOID:5507	mondo.json	clear cell ependymoma	http://purl.obolibrary.org/obo/MONDO_0003476	DOID:5507|NCIT:C4714	
UBERON:0012075	biolink:AnatomicalEntity	replacement bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012075		
MONDO:0003477	biolink:Disease	brain stem ependymoma	An ependymoma that arises from the brain stem.	NCIT:C5098|UMLS:C1332609|DOID:5508	mondo.json	ependymoma of the brainstem|brain stem ependymoma|ependymoma of brain stem|ependymoma of the brain stem|brainstem ependymoma|ependymoma of brainstem	http://purl.obolibrary.org/obo/MONDO_0003477	DOID:5508|UMLS:C1332609|NCIT:C5098	
UBERON:0012074	biolink:AnatomicalEntity	bony part of hard palate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012074		
MONDO:0003478	biolink:Disease	childhood ependymoma	An ependymoma that arises from the central nervous system and occurs during childhood.	MESH:C531673|NCIT:C8578|DOID:5509	mondo.json	ependymoma|ependymoma of childhood|childhood ependymoma|pediatric ependymoma	http://purl.obolibrary.org/obo/MONDO_0003478	DOID:5509|NCIT:C8578|http://identifiers.org/mesh/C531673	
MONDO:0003479	biolink:Disease	toxic pneumonitis	A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects.	ICD9:506.9|UMLS:C3714582|SCTID:233733000|DOID:551	mondo.json	acute chemical pulmonary edema|acute chemical fume pulmonary edema	http://purl.obolibrary.org/obo/MONDO_0003479	DOID:551|http://identifiers.org/snomedct/233733000|UMLS:C3714582	
UBERON:0012072	biolink:AnatomicalEntity	palatal part of dermatocranium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012072		
MONDO:0003472	biolink:Disease	lice infestation	A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash.	UMLS:C0277351|UMLS:C0153317|ICD9:132.9|ICD10CM:B85.2|UMLS:C0030756|MESH:D010373|NCIT:C128401|DOID:5502	mondo.json	pediculosis and Phthirus infections|pediculosis and Phthirus infection|pediculosis, unspecified|louse infestation (& [pediculosis and Phthirus] or [lice])|pediculosis|mixed pediculosis infestation|infections, Pediculus humanus|mixed pediculosis|pediculosis + lice|infestation by Pediculus|Pediculus humanus infection|pediculosis and Phthirus infestation|louse infestation	http://purl.obolibrary.org/obo/MONDO_0003472	NCIT:C128401|UMLS:C0277351|http://identifiers.org/mesh/D010373|UMLS:C0153317|DOID:5502|http://purl.bioontology.org/ontology/ICD10CM/B85.2|UMLS:C0030756	
MONDO:0003473	biolink:Disease	spinal cord ependymoma	An ependymoma that arises from the spinal cord.	SCTID:254949006|NCIT:C3875|UMLS:C0238432|DOID:5503	mondo.json	ependymoma of the spinal cord|ependymoma of spinal cord|spinal cord ependymoma|ependymal neoplasm of the spinal cord	http://purl.obolibrary.org/obo/MONDO_0003473	http://identifiers.org/snomedct/254949006|UMLS:C0238432|NCIT:C3875|DOID:5503	
MONDO:0003474	biolink:Disease	tanycytic ependymoma	A variant of ependymoma, often found in the spinal cord, with tumor cells arranged in fascicles of variable width and cell density. Ependymal rosettes are generally absent, so this lesion must be distinguished from astrocytic neoplasms, but its EM characteristics are ependymal. (Adapted from WHO.)	NCIT:C6903|UMLS:C1370500|DOID:5504	mondo.json	tanycytic ependymoma	http://purl.obolibrary.org/obo/MONDO_0003474	UMLS:C1370500|NCIT:C6903|DOID:5504	
MONDO:0003475	biolink:Disease	papillary ependymoma	A rare variant of ependymoma characterized by well formed papillae. Tumor cell processes abutting capillaries are usually GFAP-positive. Differential diagnoses include choroid plexus papilloma, papillary meningioma and metastatic papillary carcinoma. (Adapted from WHO)	ICDO:9393/3|NCIT:C4319|DOID:5505|UMLS:C0334578	mondo.json	papillary ependymoma	http://purl.obolibrary.org/obo/MONDO_0003475	DOID:5505|NCIT:C4319|UMLS:C0334578	
GO:0046137	biolink:NamedThing	negative regulation of vitamin metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body.		mondo.json	downregulation of vitamin metabolic process|inhibition of vitamin metabolic process|down-regulation of vitamin metabolic process|negative regulation of vitamin metabolism|down regulation of vitamin metabolic process	http://purl.obolibrary.org/obo/GO_0046137		
GO:0046136	biolink:NamedThing	positive regulation of vitamin metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body.		mondo.json	positive regulation of vitamin metabolism|up-regulation of vitamin metabolic process|up regulation of vitamin metabolic process|activation of vitamin metabolic process|stimulation of vitamin metabolic process|upregulation of vitamin metabolic process	http://purl.obolibrary.org/obo/GO_0046136		
MONDO:0003470	biolink:Disease	cellular ependymoma	An ependymoma which shows conspicuous cellularity without a significant increase in mitotic rate. (Adapted from WHO)	DOID:5500|NCIT:C4714|UMLS:C1384403|NCIT:C4713	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003470	UMLS:C1384403|NCIT:C4713|DOID:5500	
MONDO:0003471	biolink:Disease	Pediculus humanus capitis infestation	A infectious disease involving Pediculus humanus capitis.	DOID:5501|ICD9:132.0|SCTID:81000006|UMLS:C0030757	mondo.json	infections, Pediculus humanus capitis|Pediculus capitis [head louse]|Pediculus humanus capitis infection|Pediculus capitis|pediculosis capitis|Pediculus capitis infestation|head louse infestation	http://purl.obolibrary.org/obo/MONDO_0003471	http://identifiers.org/snomedct/81000006|DOID:5501|UMLS:C0030757	
MONDO:0015447	biolink:Disease	differentiated thyroid carcinoma	Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass.	EFO:1002017|UMLS:C1337013|NCIT:C7153|Orphanet:146|ONCOTREE:WDTC|DOID:0080525	mondo.json	papillary or follicular thyroid carcinoma|well differentiated thyroid gland carcinoma|thyroid gland differentiated carcinoma|thyroid gland well differentiated carcinoma|well-differentiated thyroid cancer|differentiated thyroid cancer|differentiated thyroid gland carcinoma|well differentiated thyroid carcinoma|differentiated thyroid gland cancer|well-differentiated thyroid carcinoma|differentiated thyroid carcinoma	http://purl.obolibrary.org/obo/MONDO_0015447	Orphanet:146|DOID:0080525|NCIT:C7153|UMLS:C1337013	ordo_disease
UBERON:0000093	biolink:AnatomicalEntity	sulcus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000093		
MONDO:0015446	biolink:Disease	atypical coarctation of aorta	Middle aortic coarctation is a rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta with varying involvement of the visceral and renal arteries that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, lower-limb claudication and that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis).	Orphanet:1456|UMLS:C3496579|SCTID:471268000|UMLS:C3805239	mondo.json	coarctation of the abdominal aorta|mid-aortic syndrome|Midaortic syndrome|mid-aortic dysplastic syndrome|middle aortic syndrome	http://purl.obolibrary.org/obo/MONDO_0015446	UMLS:C3496579|Orphanet:1456|http://identifiers.org/snomedct/471268000|UMLS:C3805239	ordo_clinical_subtype
UBERON:0000094	biolink:AnatomicalEntity	membrane organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000094		
MONDO:0015445	biolink:Disease	autosomal dominant coarctation of aorta	Autosomal dominant form of aorta coarctation.	Orphanet:1455	mondo.json	autosomal dominant aorta coarctation|aorta coarctation, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0015445	Orphanet:1455	ordo_clinical_subtype
UBERON:0000095	biolink:AnatomicalEntity	cardiac neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000095		
MONDO:0015444	biolink:Disease	obsolete cleidocranial dysplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015444		
MONDO:0015449	biolink:Disease	criss-cross heart	Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects.	MESH:D003420|SCTID:253269002|Orphanet:1461|ICD9:746.89	mondo.json	superoinferior ventricles|twisted atrioventricular connections|criss-cross atrioventricular relationships	http://purl.obolibrary.org/obo/MONDO_0015449	http://identifiers.org/mesh/D003420|http://identifiers.org/snomedct/253269002|Orphanet:1461	ordo_morphological_anomaly
UBERON:0000091	biolink:AnatomicalEntity	bilaminar disc			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000091		
MONDO:0015448	biolink:Disease	mitochondrial complex III deficiency	Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).	DOID:0111139|Orphanet:1460	mondo.json	isolated complex III deficiency|isolated mitochondrial respiratory chain complex III deficiency|isolated CoQ-cytochrome C reductase deficiency|isolated ubiquinone-cytochrome C reductase deficiency|isolated coenzyme Q-cytochrome C reductase deficiency	http://purl.obolibrary.org/obo/MONDO_0015448	Orphanet:1460|DOID:0111139	ordo_disease
UBERON:0000092	biolink:AnatomicalEntity	post-embryonic stage	stage succeeding embryo, including mature structure		mondo.json	postembryonic stage|postembryonic|post-hatching stage	http://purl.obolibrary.org/obo/UBERON_0000092		
MONDO:0015443	biolink:Disease	chromosome 8-derived supernumerary ring/marker	Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.	GARD:0001347|MESH:C537824|GTR:AN0101480|NCIT:C121988|Orphanet:1450|GTR:AN0101479|SCTID:715983001|UMLS:CN036129	mondo.json	R8|supernumerary ring/marker 8|rose cluster 8|ring chromosome 8|Ring chromosome 8 syndrome|r(8) syndrome|chromosome 8 ring|Ring 8	http://purl.obolibrary.org/obo/MONDO_0015443	http://identifiers.org/snomedct/715983001|Orphanet:1450|NCIT:C121988|http://identifiers.org/mesh/C537824|UMLS:CN036129	ordo_malformation_syndrome
GO:0097722	biolink:NamedThing	sperm motility	Any process involved in the controlled movement of a sperm cell.		mondo.json	sperm movement	http://purl.obolibrary.org/obo/GO_0097722		
MONDO:0015442	biolink:Disease	obsolete hereditary breast and ovarian cancer syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015442		
MONDO:0015441	biolink:Disease	ring chromosome 7	Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).	MESH:C537813|GARD:0001345|NCIT:C121986|SCTID:765489006|Orphanet:1449	mondo.json	rose cluster 7|Ring 7|R7|chromosome 7 ring|Ring chromosome 7 syndrome|Ring chromosome type 7	http://purl.obolibrary.org/obo/MONDO_0015441	Orphanet:1449|NCIT:C121986|http://identifiers.org/mesh/C537813|http://identifiers.org/snomedct/765489006	gard_rare|ordo_malformation_syndrome
MONDO:0015440	biolink:Disease	ring chromosome 6	Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported.	GARD:0006095|MESH:C537763|NCIT:C121985|Orphanet:1448|SCTID:765488003	mondo.json	rose cluster 6|R6|Ring 6|chromosome 6 ring|Ring chromosome 6 syndrome|Ring chromosome type 6	http://purl.obolibrary.org/obo/MONDO_0015440	Orphanet:1448|http://identifiers.org/mesh/C537763|NCIT:C121985|http://identifiers.org/snomedct/765488003	gard_rare|ordo_malformation_syndrome
MONDO:0003447	biolink:Disease	clear cell hidradenoma	An uncommon benign neoplasm of the sweat glands characterized by the presence of clear cells.	SCTID:400099008|DOID:5443|NCIT:C7567|UMLS:C1370701	mondo.json	clear cell hidradenoma|clear cell hidradenoma (morphologic abnormality)|clear cell myoepithelioma	http://purl.obolibrary.org/obo/MONDO_0003447	DOID:5443|NCIT:C7567|UMLS:C1370701	
MONDO:0003448	biolink:Disease	benign spiradenoma	A benign epithelial neoplasm with eccrine or apocrine differentiation, arising from the sweat glands. It usually presents as a solitary, well circumscribed, firm nodule in the face and upper trunk. It is characterized by the presence of basaloid cells forming nodules in the dermis. Cases of carcinoma arising from long standing spiradenomas have been reported.	ICDO:8403/0|NCIT:C4170|ONCOTREE:SPIR|GARD:0008649|DOID:5444|SCTID:403938001|UMLS:C0334347	mondo.json	spiroma/spiradenoma|spiradenoma|eccrine spiradenoma of skin|benign eccrine spiradenoma|eccrine spiradenoma|eccrine spiradenoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003448	UMLS:C0334347|http://identifiers.org/snomedct/403938001|DOID:5444|NCIT:C4170	
MONDO:0003449	biolink:Disease	obsolete syringocystadenoma papilliferum			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003449		
MONDO:0003443	biolink:Disease	papillary urothelial neoplasm	A neoplastic lesion of the urinary tract transitional cell epithelium characterized by papillary formations. -- 2003	NCIT:C27883|DOID:5433|UMLS:C1335329	mondo.json	papillary transitional cell neoplasm of the urinary tract|urothelium papillary epithelial neoplasm|inverted papilloma of urinary tract|papillary urothelial neoplasm|urinary tract papillary transitional cell neoplasm|urinary tract papillary transitional cell benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0003443	DOID:5433|NCIT:C27883|UMLS:C1335329	
MONDO:0003444	biolink:Disease	intrahepatic bile duct adenoma	A rare adenoma that arises from the intrahepatic biliary tree.	DOID:5437|UMLS:C1331535|NCIT:C7126	mondo.json	intrahepatic bile duct adenoma|adenoma of the intrahepatic bile duct|adenoma of intrahepatic bile duct|adenoma, HEPATOCHOLANGIOCELLULAR, benign	http://purl.obolibrary.org/obo/MONDO_0003444	DOID:5437|UMLS:C1331535|NCIT:C7126	
MONDO:0003445	biolink:Disease	extrahepatic bile duct adenoma	An adenoma that arises from the extrahepatic bile ducts. It is classified as papillary, tubular, or tubulopapillary.	DOID:5438|NCIT:C5857|UMLS:C1331534	mondo.json	adenoma of the extrahepatic bile duct|extrahepatic bile duct adenoma|adenoma of extrahepatic bile duct	http://purl.obolibrary.org/obo/MONDO_0003445	DOID:5438|UMLS:C1331534|NCIT:C5857	
MONDO:0027416	biolink:Disease	obsolete retinal cone dystrophy 2		GARD:0010117|OMIM:601251	mondo.json	Progressive cone degeneration|Cone dystrophy progressive|RCD2	http://purl.obolibrary.org/obo/MONDO_0027416	https://omim.org/entry/601251	gard_rare
MONDO:0003446	biolink:Disease	papillary hidradenoma	A benign neoplasm arising from the sweat glands. It presents as a slow growing cystic nodular lesion most often in the skin of the vulva and the perianal region. It is characterized by the presence of cystic and large papillary structures. The papillary structures contain connective tissue and are covered by two layers of epithelium. Complete excision is curative.	DOID:5439|UMLS:C0334348|SCTID:307597000|NCIT:C4171|ICDO:8405/0	mondo.json	hidradenoma papilliferum	http://purl.obolibrary.org/obo/MONDO_0003446	UMLS:C0334348|http://identifiers.org/snomedct/307597000|DOID:5439|NCIT:C4171	
MONDO:0003440	biolink:Disease	obsolete bladder flat intraepithelial lesion			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003440		
MONDO:0003441	biolink:Disease	dystonic disorder	A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures.	ICD9:333.90|SCTID:15802004|NCIT:C34563|ICD10CM:G24|DOID:543|MESH:D020821|HP:0001332	mondo.json	dystonic disorder|dystonia disorder|dystonia disorders|dystonic disease|dystonia	http://purl.obolibrary.org/obo/MONDO_0003441	http://identifiers.org/mesh/D020821|DOID:543|NCIT:C34563|http://purl.bioontology.org/ontology/ICD10CM/G24|http://identifiers.org/snomedct/15802004	
CHR:9606-chr14q22-q23	biolink:NamedThing	14q22-q23 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr14q22-q23		
MONDO:0003442	biolink:Disease	bladder papillary urothelial neoplasm	A papillary epithelial neoplasm that involves the urinary bladder urothelium.	DOID:5432|NCIT:C39857|UMLS:C1511197	mondo.json	urinary bladder papillary transitional cell neoplasm|urinary bladder papillary urothelial neoplasm|bladder papillary transitional cell neoplasm|bladder papillary urothelial neoplasm|urinary bladder urothelium papillary epithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0003442	DOID:5432|UMLS:C1511197|NCIT:C39857	
ENVO:02500027	biolink:NamedThing	anthropogenic environmental process	An environmental process which is driven by the action of humans.		mondo.json		http://purl.obolibrary.org/obo/ENVO_02500027		
ENVO:02500026	biolink:NamedThing	anthropogenic modulatory intervention process	A process during which humans apply technology to alter the magnitude, duration, rate, or impact of an environmental process.		mondo.json		http://purl.obolibrary.org/obo/ENVO_02500026		
GO:0046146	biolink:NamedThing	tetrahydrobiopterin metabolic process	The chemical reactions and pathways involving tetrahydrobiopterin, the reduced form of biopterin (2-amino-4-hydroxy-6-(1,2-dihydroxypropyl)-pteridine). It functions as a hydroxylation coenzyme, e.g. in the conversion of phenylalanine to tyrosine.		mondo.json	5,6,7,8-tetrahydrobiopterin metabolic process|tetrahydrobiopterin metabolism	http://purl.obolibrary.org/obo/GO_0046146		
UBERON:0012069	biolink:AnatomicalEntity	epithelium-associated lymphoid tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012069		
MONDO:0015436	biolink:Disease	ring chromosome 20	Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present.	SCTID:23686004|ICD9:758.89|NCIT:C169001|Orphanet:1444|GARD:0001334|MESH:C580424	mondo.json	Ring 20|Ring chromosome 20 syndrome|chromosome 20 ring|Ring chromosome type 20|R20	http://purl.obolibrary.org/obo/MONDO_0015436	http://identifiers.org/snomedct/23686004|Orphanet:1444|NCIT:C169001|http://identifiers.org/mesh/C580424	gard_rare|ordo_malformation_syndrome
MONDO:0015435	biolink:Disease	ring chromosome 19	Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported.	SCTID:765484001|UMLS:CN036553|Orphanet:1443|GARD:0001333|MESH:C538310	mondo.json	R19|Ring 19|Ring chromosome 19 syndrome|chromosome 19 ring|Ring chromosome type 19	http://purl.obolibrary.org/obo/MONDO_0015435	http://identifiers.org/mesh/C538310|Orphanet:1443|http://identifiers.org/snomedct/765484001|UMLS:CN036553	gard_rare|ordo_malformation_syndrome
UBERON:0000083	biolink:AnatomicalEntity	mesonephric tubule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000083		
MONDO:0015434	biolink:Disease	ring chromosome 18	Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.	UMLS:C0265475|EFO:0001226|Orphanet:1442|MESH:C538304|SCTID:88154004|GARD:0006077	mondo.json	chromosome 18 ring|Ring chromosome 18 syndrome|R18|Ring 18|Ring chromosome type 18	http://purl.obolibrary.org/obo/MONDO_0015434	http://identifiers.org/mesh/C538304|Orphanet:1442|UMLS:C0265475|http://identifiers.org/snomedct/88154004	ordo_malformation_syndrome|gard_rare
UBERON:0000084	biolink:AnatomicalEntity	ureteric bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000084		
MONDO:0015433	biolink:Disease	ring chromosome 17	Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.	GARD:0004724|Orphanet:1441|MESH:C538046	mondo.json	R17|Ring chromosome 17 syndrome|Ring 17|chromosome 17 ring|Ring chromosome type 17	http://purl.obolibrary.org/obo/MONDO_0015433	http://identifiers.org/mesh/C538046|Orphanet:1441	gard_rare|ordo_malformation_syndrome
UBERON:0000085	biolink:AnatomicalEntity	morula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000085		
ENVO:02500028	biolink:NamedThing	planetary erosion	An action of exogenic processes (such as water flow or wind) which remove environmental material from one part of a planet's crust, transporting it to another location where it is deposited.		mondo.json		http://purl.obolibrary.org/obo/ENVO_02500028		
MONDO:0015439	biolink:Disease	ring chromosome 4	Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.	NCIT:C121983|GARD:0001339|Orphanet:1447|MESH:C537636|SCTID:81678004	mondo.json	Ring 4|chromosome 4 ring|syndrome r(4)|Ring chromosome type 4|rose cluster 4|R4|r(4) syndrome|Ring chromosome 4 syndrome	http://purl.obolibrary.org/obo/MONDO_0015439	http://identifiers.org/snomedct/81678004|http://identifiers.org/mesh/C537636|Orphanet:1447|NCIT:C121983	ordo_malformation_syndrome|gard_rare
MONDO:0015438	biolink:Disease	ring chromosome 22	Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality,a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family.	SCTID:13555004|UMLS:CN036599|Orphanet:1446|GARD:0001336|MESH:C536795	mondo.json	Ring 22|chromosome 22 ring|R22|Ring chromosome 22 syndrome|Ring chromosome type 22|r(22) syndrome	http://purl.obolibrary.org/obo/MONDO_0015438	Orphanet:1446|http://identifiers.org/mesh/C536795|http://identifiers.org/snomedct/13555004|UMLS:CN036599	ordo_malformation_syndrome|gard_rare
UBERON:0000080	biolink:AnatomicalEntity	mesonephros			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000080		
MONDO:0015437	biolink:Disease	ring chromosome 21	Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals.	SCTID:31325007|MESH:C537109|Orphanet:1445|GARD:0006083|UMLS:CN037252	mondo.json	Ring 21|chromosome 21 en anneau|Ring chromosome 21 syndrome|chromosome 21 ring|R21|Ring chromosome type 21	http://purl.obolibrary.org/obo/MONDO_0015437	http://identifiers.org/mesh/C537109|Orphanet:1445|http://identifiers.org/snomedct/31325007|UMLS:CN037252	gard_rare|ordo_malformation_syndrome
UBERON:0000081	biolink:AnatomicalEntity	metanephros			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000081		
MONDO:0015432	biolink:Disease	ring chromosome 12	Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported.	GARD:0001325|UMLS:C0795843|MESH:C538298|Orphanet:1439	mondo.json	R12|chromosome 12 ring|Ring chromosome type 12|Ring chromosome 12 syndrome|Ring 12	http://purl.obolibrary.org/obo/MONDO_0015432	http://identifiers.org/mesh/C538298|Orphanet:1439|UMLS:C0795843	ordo_malformation_syndrome|gard_rare
GO:0071103	biolink:NamedThing	DNA conformation change	A cellular process that results in a change in the spatial configuration of a DNA molecule. A conformation change can bend DNA, or alter the, twist, writhe, or linking number of a DNA molecule.		mondo.json	DNA conformation modification	http://purl.obolibrary.org/obo/GO_0071103		
UBERON:0000086	biolink:AnatomicalEntity	zona pellucida			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000086		
MONDO:0015431	biolink:Disease	ring chromosome 10	Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases.	MESH:C538086|UMLS:CN037257|GARD:0001322|SCTID:86997002|UMLS:C0265438|Orphanet:1438	mondo.json	chromosome 10 ring|Ring chromosome 10 syndrome|r10|Ring 10|Ring chromosome type 10	http://purl.obolibrary.org/obo/MONDO_0015431	Orphanet:1438|UMLS:C0265438|http://identifiers.org/snomedct/86997002|UMLS:CN037257|http://identifiers.org/mesh/C538086	gard_rare|ordo_malformation_syndrome
UBERON:0000087	biolink:AnatomicalEntity	inner cell mass			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000087		
MONDO:0015430	biolink:Disease	ring chromosome 1	Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.	Orphanet:1437|GTR:AN0102272|UMLS:CN036412|GARD:0001320|SCTID:47017007|NCIT:C36474|MESH:C535361	mondo.json	chromosome 1 ring|chromosome 1, ring|Ring chromosome type 1|r(1) syndrome|Ring chromosome 1 syndrome|Ring 1|R1	http://purl.obolibrary.org/obo/MONDO_0015430	Orphanet:1437|http://identifiers.org/snomedct/47017007|http://identifiers.org/mesh/C535361|UMLS:CN036412	ordo_malformation_syndrome
UBERON:0000088	biolink:AnatomicalEntity	trophoblast			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000088		
NCBITaxon:34486	biolink:OrganismalEntity	Ancylistaceae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_34486		
NCBITaxon:34487	biolink:OrganismalEntity	Conidiobolus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_34487		
MONDO:0003458	biolink:Disease	uterine corpus adenofibroma	A usually polypoid, benign neoplasm that arises from the endometrial cavity. It is characterized by the presence of a mesenchymal core component and an epithelial component that forms a lining on the mesenchymal core.	UMLS:C1336901|NCIT:C6337|DOID:5475	mondo.json	adenofibroma of uterine corpus|adenofibroma of body of uterus|adenofibroma of the body of uterus|adenofibroma of the corpus uteri|adenofibroma of the uterine corpus|corpus uteri adenofibroma|adenofibroma of corpus uteri|adenofibroma of uterine body|body of uterus adenofibroma|adenofibroma of the uterine body|uterine body adenofibroma	http://purl.obolibrary.org/obo/MONDO_0003458	DOID:5475|NCIT:C6337|UMLS:C1336901	
MONDO:0003459	biolink:Disease	cervical adenofibroma	A benign, polypoid neoplasm that arises from the cervix. It is characterized by the presence of epithelial and mesenchymal elements.	NCIT:C40230|DOID:5476|UMLS:C1516402	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003459	UMLS:C1516402|NCIT:C40230|DOID:5476	
MONDO:0027407	biolink:Disease	Kleefstra syndrome 1	An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3.	NCIT:C129976|UMLS:C0795833|SCTID:724207001|MESH:C563043|DOID:0070075|OMIM:610253	mondo.json	Kleefstra syndrome|KLEFS1|chromosome 9q34.3 deletion syndrome|Kleefstra syndrome 1|9q-syndrome	http://purl.obolibrary.org/obo/MONDO_0027407	http://identifiers.org/snomedct/724207001|https://omim.org/entry/610253|UMLS:C0795833|NCIT:C129976|http://identifiers.org/mesh/C563043	
MONDO:0003454	biolink:Disease	conjunctival cancer	A malignant neoplasm involving the conjunctiva.	SCTID:363463000|DOID:5467|ICD9:190.3|NCIT:C3564	mondo.json	malignant tumor of conjunctiva|conjunctiva cancer|conjunctival tumor|malignant conjunctiva neoplasm|malignant conjunctival tumor|malignant neoplasm of conjunctiva (primary)|malignant neoplasm of the conjunctiva|malignant conjunctiva tumor|cancer of conjunctiva|malignant neoplasm of conjunctiva|malignant conjunctival neoplasm|malignant tumor of the conjunctiva	http://purl.obolibrary.org/obo/MONDO_0003454	DOID:5467|http://identifiers.org/snomedct/363463000|NCIT:C3564	
MONDO:0003455	biolink:Disease	bile duct papillary neoplasm	A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts.	ICDO:8503/0|DOID:5468|NCIT:C6881|UMLS:C1879344	mondo.json	IPN|bile duct papillomatosis|bile duct papillary neoplasm|biliary papillomatosis|bile duct papillary epithelial neoplasm|intraductal papillary neoplasm	http://purl.obolibrary.org/obo/MONDO_0003455	DOID:5468|UMLS:C1879344|NCIT:C6881	
MONDO:0003456	biolink:Disease	obsolete bile duct mucinous cystic neoplasm		DOID:5469	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003456	DOID:5469	
MONDO:0003457	biolink:Disease	obsolete ovarian serous adenofibroma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003457		
MONDO:0003450	biolink:Disease	eccrine papillary adenoma	A benign neoplasm arising from the sweat glands. It is characterized by the presence of eccrine ducts in the dermis containing intraluminal papillary projections.	NCIT:C4173|DOID:5446|GARD:0010463|SCTID:253021007|UMLS:C0334350|ICDO:8408/0	mondo.json	eccrine papillary adenoma of skin|Papillary eccrine adenoma	http://purl.obolibrary.org/obo/MONDO_0003450	DOID:5446|NCIT:C4173|UMLS:C0334350|http://identifiers.org/snomedct/253021007	gard_rare
MONDO:0003451	biolink:Disease	obsolete laryngeal neuroendocrine tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003451		
MONDO:0003452	biolink:Disease	cochlear disorder	Pathological processes of the snail-like structure (cochlea) of the inner ear (labyrinth) which can involve its nervous tissue, blood vessels, or fluid (endolymph).	DOID:5463|UMLS:C0009197|MESH:D015834	mondo.json	disease of cochlea|disorder of cochlea|cochlea disease|disease or disorder of cochlea|cochlea disease or disorder	http://purl.obolibrary.org/obo/MONDO_0003452	http://identifiers.org/mesh/D015834|UMLS:C0009197|DOID:5463	
MONDO:0003453	biolink:Disease	conjunctival intraepithelial neoplasm		SCTID:418134006|NCIT:C6120|DOID:5465|ICD9:239.89|UMLS:C1333148	mondo.json	intraepithelial neoplasia of the conjunctiva|conjunctival intraepithelial neoplasia|intraepithelial neoplasia of conjunctiva|conjunctiva intraepithelial neoplasia	http://purl.obolibrary.org/obo/MONDO_0003453	DOID:5465|NCIT:C6120|http://identifiers.org/snomedct/418134006|UMLS:C1333148	
MONDO:0015419	biolink:Disease	midline cervical cleft	Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia.	ICD9:744.89|Orphanet:141288|SCTID:403557001	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015419	Orphanet:141288|http://identifiers.org/snomedct/403557001	ordo_morphological_anomaly
UBERON:0012054	biolink:AnatomicalEntity	myocoele			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012054		
ENVO:02500014	biolink:NamedThing	forest process			mondo.json		http://purl.obolibrary.org/obo/ENVO_02500014		
MONDO:0015425	biolink:Disease	lethal recessive chondrodysplasia	Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.	GARD:0001294|UMLS:C4304745|UMLS:CN199522|Orphanet:1423|SCTID:719404009	mondo.json	chondrodysplasia lethal recessive|Maroteaux-Stanescu-Cousin syndrome	http://purl.obolibrary.org/obo/MONDO_0015425	http://identifiers.org/snomedct/719404009|Orphanet:1423|UMLS:C4304745|UMLS:CN199522	gard_rare|ordo_malformation_syndrome
UBERON:0000071	biolink:AnatomicalEntity	death stage	End of the life of an organism.		mondo.json	death	http://purl.obolibrary.org/obo/UBERON_0000071		
MONDO:0015424	biolink:Disease	lethal chondrodysplasia, Moerman type		Orphanet:1420|GARD:0003225|UMLS:CN199519	mondo.json	Moerman-Vandenberghe-Fryns syndrome|lethal chondrodysplasia Moerman type	http://purl.obolibrary.org/obo/MONDO_0015424	Orphanet:1420|UMLS:CN199519	gard_rare|ordo_malformation_syndrome
UBERON:0000072	biolink:AnatomicalEntity	proximo-distal subdivision of respiratory tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000072		
MONDO:0015423	biolink:Disease	obsolete anaplastic thyroid carcinoma	OBSOLETE. Anaplastic thyroid carcinoma may represent the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0015423		
UBERON:0000073	biolink:AnatomicalEntity	regional part of nervous system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000073		
MONDO:0015422	biolink:Disease	orofaciodigital syndrome type 13	Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, and brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated.	Orphanet:141330|SCTID:763835004|UMLS:C2932680|MESH:C548035|GARD:0010694	mondo.json	OFDS 13|oral-facial-digital syndrome 13|orofaciodigital syndrome 13|oral facial digital syndrome 13|oral-facial-digital syndrome XIII|orofaciodigital syndrome XIII|oral-facial-digital syndrome type 13|OFD13|oral facial digital syndrome type 13|Degner syndrome|OFD syndrome 13	http://purl.obolibrary.org/obo/MONDO_0015422	Orphanet:141330|http://identifiers.org/mesh/C548035|http://identifiers.org/snomedct/763835004|UMLS:C2932680	ordo_malformation_syndrome
UBERON:0000074	biolink:AnatomicalEntity	renal glomerulus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000074		
MONDO:0015429	biolink:Disease	choroideremia-hypopituitarism syndrome		UMLS:CN226680|Orphanet:1434	mondo.json	CHM-hypopituitarism syndrome	http://purl.obolibrary.org/obo/MONDO_0015429	UMLS:CN226680|Orphanet:1434	ordo_disease
GO:0097708	biolink:NamedThing	intracellular vesicle	Any vesicle that is part of the intracellular region.		mondo.json		http://purl.obolibrary.org/obo/GO_0097708		
MONDO:0015428	biolink:Disease	choroidal atrophy-alopecia syndrome	Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.	SCTID:720850008|MESH:C535810|Orphanet:1433|GARD:0003704|UMLS:C2931026	mondo.json	choroidal atrophy alopecia|Moloney syndrome|fine hair, absent/decreased lashes, absent/decreased eyebrows, visual loss-mild/suspected, dysplastic/thick/grooved toenails and fingernails|regional choroidal atrophy and alopecia	http://purl.obolibrary.org/obo/MONDO_0015428	http://identifiers.org/snomedct/720850008|Orphanet:1433|UMLS:C2931026|http://identifiers.org/mesh/C535810	ordo_malformation_syndrome
MONDO:0015427	biolink:Disease	paroxysmal dyskinesia	Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome).	ICD9:333.5|MESH:D002819|SCTID:49949003|Orphanet:1431	mondo.json	paroxysmal dystonic choreoathetosis|paroxysmal choreoathetosis	http://purl.obolibrary.org/obo/MONDO_0015427	Orphanet:1431|http://identifiers.org/snomedct/49949003	ordo_group_of_disorders|disease_grouping
MONDO:0015426	biolink:Disease	Desbuquois dysplasia	Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.	UMLS:C0432242|Orphanet:1425|UMLS:CN239270|OMIMPS:251450|NCIT:C124056|ICD9:756.9|DOID:0060462|GARD:0001818|SCTID:254099008	mondo.json	DBQD|desbuquois syndrome|micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification|Desbuquois dysplasia|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	http://purl.obolibrary.org/obo/MONDO_0015426	UMLS:CN239270|Orphanet:1425|http://identifiers.org/snomedct/254099008|UMLS:C0432242|DOID:0060462|https://omim.org/phenotypicSeries/PS251450|NCIT:C124056	ordo_disease
UBERON:0000079	biolink:AnatomicalEntity	male reproductive system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000079		
MONDO:0015421	biolink:Disease	orofaciodigital syndrome type 12	Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated.	UMLS:C2932679|SCTID:763834000|GARD:0010693|MESH:C548034|Orphanet:141327	mondo.json	OFDS 12|OFD12|oral facial digital syndrome 12|oral-facial-digital syndrome 12|orofaciodigital syndrome 12|orofaciodigital syndrome XII|oral facial digital syndrome type 12|Moran-Barroso syndrome|oral-facial-digital syndrome type 12	http://purl.obolibrary.org/obo/MONDO_0015421	Orphanet:141327|http://identifiers.org/mesh/C548034|http://identifiers.org/snomedct/763834000|UMLS:C2932679	ordo_malformation_syndrome
UBERON:0000075	biolink:AnatomicalEntity	subdivision of skeletal system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000075		
MONDO:0015420	biolink:Disease	cleft lip and alveolus	Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.	OMIM:129400|ICD9:525.8|SCTID:373643003|OMIM:225060|Orphanet:141291	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015420	Orphanet:141291|http://identifiers.org/snomedct/373643003	ordo_morphological_anomaly
UBERON:0000076	biolink:AnatomicalEntity	external ectoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000076		
UBERON:0000077	biolink:AnatomicalEntity	mixed endoderm/mesoderm-derived structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000077		
UBERON:0000078	biolink:AnatomicalEntity	mixed ectoderm/mesoderm/endoderm-derived structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000078		
GO:0000963	biolink:NamedThing	mitochondrial RNA processing	The conversion of a primary RNA molecule transcribed from a mitochondrial genome into one or more mature RNA molecules; occurs in the mitochondrion.		mondo.json		http://purl.obolibrary.org/obo/GO_0000963		
CHEBI:23390	biolink:ChemicalSubstance	cobalt-corrinoid hexaamide			mondo.json		http://purl.obolibrary.org/obo/CHEBI_23390		
UBERON:0000101	biolink:AnatomicalEntity	lobe of lung			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000101		
UBERON:0000102	biolink:AnatomicalEntity	lung vasculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000102		
UBERON:0000104	biolink:AnatomicalEntity	life cycle	An entire span of an organism's life, commencing with the zygote stage and ending in the death of the organism.		mondo.json	entire life cycle|life|lifespan|entire lifespan	http://purl.obolibrary.org/obo/UBERON_0000104		
UBERON:0002749	biolink:AnatomicalEntity	regional part of cerebellar cortex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002749		
NCBITaxon:1678	biolink:OrganismalEntity	Bifidobacterium		PMID:11594590|PMID:20061504|PMID:17158978|GC_ID:11|PMID:1742200|PMID:8573484	mondo.json	Tissieria|Bifidibacterium	http://purl.obolibrary.org/obo/NCBITaxon_1678		
OBO:ECTO_0000637	biolink:NamedThing	exposure to EC 1.9.3.1 (cytochrome c oxidase) inhibitor	An exposure to EC 1.9.3.1 (cytochrome c oxidase) inhibitor.		mondo.json	exposure to EC 1.9.3.1 (cytochrome c oxidase) inhibitor	http://purl.obolibrary.org/obo/ECTO_0000637		
NCBITaxon:71240	biolink:OrganismalEntity	eudicotyledons		PMID:26724406|GC_ID:1|PMID:25249442	mondo.json	eudicots|Dicotyledoneae|dicots|dicotyledons	http://purl.obolibrary.org/obo/NCBITaxon_71240		
GO:0009306	biolink:NamedThing	protein secretion	The controlled release of proteins from a cell.		mondo.json	protein secretion resulting in cell fate commitment|protein secretion during cell fate commitment|glycoprotein secretion	http://purl.obolibrary.org/obo/GO_0009306		
GO:0009308	biolink:NamedThing	amine metabolic process	The chemical reactions and pathways involving any organic compound that is weakly basic in character and contains an amino or a substituted amino group. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom.		mondo.json	amine metabolism	http://purl.obolibrary.org/obo/GO_0009308		
GO:0009309	biolink:NamedThing	amine biosynthetic process	The chemical reactions and pathways resulting in the formation of any organic compound that is weakly basic in character and contains an amino or a substituted amino group. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom.		mondo.json	amine anabolism|amine synthesis|amine biosynthesis|amine formation	http://purl.obolibrary.org/obo/GO_0009309		
GO:0000976	biolink:NamedThing	transcription cis-regulatory region binding	Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon.		mondo.json	transcription regulatory region DNA binding|bacterial-type RNA polymerase transcription regulatory region sequence-specific DNA binding|eubacterial-type RNA polymerase regulatory region DNA binding|bacterial-type RNA polymerase regulatory region DNA binding|regulatory region DNA binding|eubacterial-type RNA polymerase regulatory region sequence-specific DNA binding|transcription regulatory region sequence-specific DNA binding	http://purl.obolibrary.org/obo/GO_0000976		
GO:0000977	biolink:NamedThing	RNA polymerase II transcription regulatory region sequence-specific DNA binding	Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II.		mondo.json	RNA polymerase II regulatory region DNA binding	http://purl.obolibrary.org/obo/GO_0000977		
CHEBI:50996	biolink:ChemicalSubstance	tertiary amino compound	A compound formally derived from ammonia by replacing three hydrogen atoms by organyl groups.		mondo.json	tertiary amino compounds	http://purl.obolibrary.org/obo/CHEBI_50996		
CHEBI:50995	biolink:ChemicalSubstance	secondary amino compound	A compound formally derived from ammonia by replacing two hydrogen atoms by organyl groups.		mondo.json	secondary amino compounds	http://purl.obolibrary.org/obo/CHEBI_50995		
CHEBI:50994	biolink:ChemicalSubstance	primary amino compound	A compound formally derived from ammonia by replacing one hydrogen atom by an organyl group.		mondo.json	primary amino compounds	http://purl.obolibrary.org/obo/CHEBI_50994		
PATO:0000389	biolink:NamedThing	acute	A quality of a process inhering in a bearer by virtue of the bearer's having a sudden onset, sharp rise, and short course.		mondo.json		http://purl.obolibrary.org/obo/PATO_0000389		
UBERON:0014720	biolink:AnatomicalEntity	interlobar duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014720		
NCBITaxon:1647	biolink:OrganismalEntity	Erysipelothrix		PMID:7537073|GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1647		
NCBITaxon:1648	biolink:OrganismalEntity	Erysipelothrix rhusiopathiae		PMID:8427802|PMID:1503975|GC_ID:11	mondo.json	Erysipelothrix erysipeloides|Bacterium rhusiopathiae|Erysipelothrix insidiosa|Bacillus insidiosus|Erysipelothrix porci|Bacillus rhusiopathiae suis|Erysipelothrix murisepticus	http://purl.obolibrary.org/obo/NCBITaxon_1648		
NCBITaxon:71275	biolink:OrganismalEntity	rosids		GC_ID:1	mondo.json	Rosidae	http://purl.obolibrary.org/obo/NCBITaxon_71275		
UBERON:0014717	biolink:AnatomicalEntity	mucous acinus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014717		
NCBITaxon:71274	biolink:OrganismalEntity	asterids		PMID:12144762|GC_ID:1	mondo.json	Asteridae	http://purl.obolibrary.org/obo/NCBITaxon_71274		
UBERON:0014719	biolink:AnatomicalEntity	intralobular duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014719		
HGNC:9403	biolink:NamedThing	PRKCH			mondo.json		http://identifiers.org/hgnc/9403		
CHEBI:35358	biolink:ChemicalSubstance	sulfonamide	An amide of a sulfonic acid RS(=O)2NR'2.		mondo.json	sulfonamides|sulfonamides	http://purl.obolibrary.org/obo/CHEBI_35358		
PATO:0000387	biolink:NamedThing	soft	A hardness quality of giving little resistance to pressure.		mondo.json		http://purl.obolibrary.org/obo/PATO_0000387		
UBERON:0014716	biolink:AnatomicalEntity	interlobular duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014716		
PATO:0000386	biolink:NamedThing	hard	A hardness quality of being rigid and resistant to pressure.		mondo.json	firm|tough|impenetrable	http://purl.obolibrary.org/obo/PATO_0000386		
CHEBI:35350	biolink:ChemicalSubstance	hydroxy steroid			mondo.json	Hydroxysteroid|hydroxysteroids|hydroxy steroids	http://purl.obolibrary.org/obo/CHEBI_35350		
HGNC:9402	biolink:NamedThing	PRKCG			mondo.json		http://identifiers.org/hgnc/9402		
CHEBI:35352	biolink:ChemicalSubstance	organonitrogen compound	Any heteroorganic entity containing at least one carbon-nitrogen bond.		mondo.json	organonitrogen compounds|organonitrogens	http://purl.obolibrary.org/obo/CHEBI_35352		
NCBITaxon:1653	biolink:OrganismalEntity	Corynebacteriaceae		PMID:27864136|PMID:19244447|GC_ID:11|PMID:30186281	mondo.json	Coryneform bacteria	http://purl.obolibrary.org/obo/NCBITaxon_1653		
NCBITaxon:1654	biolink:OrganismalEntity	Actinomyces		GC_ID:11|PMID:30186281	mondo.json	Actinocladothrix|Discomyces	http://purl.obolibrary.org/obo/NCBITaxon_1654		
UBERON:0002726	biolink:AnatomicalEntity	cervical spinal cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002726		
NCBITaxon:1659	biolink:OrganismalEntity	Actinomyces israelii		GC_ID:11|PMID:30186281	mondo.json	Actinobacterium israeli|Discomyces israeli|Corynebacterium israeli|Nocardia israeli|Streptothrix israeli|Oospora israeli|Proactinomyces israeli|Brevistreptothrix israeli|Cohnistreptothrix israeli	http://purl.obolibrary.org/obo/NCBITaxon_1659		
CHEBI:35366	biolink:ChemicalSubstance	fatty acid	Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax. Natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated. By extension, the term is sometimes used to embrace all acyclic aliphatic carboxylic acids.		mondo.json	acide gras|Fatty acid|fatty acids|acido graso|acides gras|Fettsaeure|acidos grasos|Fettsaeuren|fatty acids	http://purl.obolibrary.org/obo/CHEBI_35366		
UBERON:0014706	biolink:AnatomicalEntity	primitive renal collecting duct system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014706		
HGNC:9414	biolink:NamedThing	PRKG1			mondo.json		http://identifiers.org/hgnc/9414		
NCBITaxon:227859	biolink:OrganismalEntity				mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_227859		
UBERON:0014702	biolink:AnatomicalEntity	frontonasal process epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014702		
UBERON:0014703	biolink:AnatomicalEntity	anal membrane ectodermal component			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014703		
UBERON:0014704	biolink:AnatomicalEntity	pleuroperitoneal canal lumen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014704		
UBERON:0014705	biolink:AnatomicalEntity	median lingual swelling epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014705		
UBERON:0002731	biolink:AnatomicalEntity	vestibulocochlear nerve root			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002731		
GO:0000959	biolink:NamedThing	mitochondrial RNA metabolic process	The chemical reactions and pathways involving RNA transcribed from the mitochondrial genome and occurring in the mitochondrion.		mondo.json		http://purl.obolibrary.org/obo/GO_0000959		
HGNC:9413	biolink:NamedThing	PRKDC			mondo.json		http://identifiers.org/hgnc/9413		
HGNC:9411	biolink:NamedThing	PRKCSH			mondo.json		http://identifiers.org/hgnc/9411		
MONDO:0005923	biolink:Disease	Pneumocystis infectious disease	Infections with species in the genus pneumocystis, a fungus causing interstitial plasma cell pneumonia (pneumonia, pneumocystis) and other infections in humans and other mammals. Immunocompromised patients, especially those with aids, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally.	EFO:0007447|MESH:D016720|UMLS:C0851886	mondo.json	Pneumocystis infection|infections, Pneumocystis	http://purl.obolibrary.org/obo/MONDO_0005923	http://identifiers.org/mesh/D016720|UMLS:C0851886	
MONDO:0005922	biolink:Disease	pleural tuberculosis	Inflammation of the pleura secondary to an infection with Mycobacterium tuberculosis.	EFO:0007446|SCTID:186172004|ICD9:012.00|NCIT:C26898|ICD9:012.0|ICD9:010.1|ICD9:010.16|MESH:D014396|ICD10CM:A15.6|ICD9:010.12|DOID:106|ICD9:010.10	mondo.json	pearly disease|tuberculosis of pleura|tuberculous pleuritis|tuberculous pleurisy|pleura tuberculosis|tuberculous pleurisy in primary progressive tuberculosis	http://purl.obolibrary.org/obo/MONDO_0005922	http://purl.bioontology.org/ontology/ICD10CM/A15.6|NCIT:C26898|http://identifiers.org/mesh/D014396|DOID:106|http://identifiers.org/snomedct/186172004	
NCBITaxon:129369	biolink:OrganismalEntity	Pulicoidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_129369		
MONDO:0005925	biolink:Disease	pneumonic pasteurellosis	Bovine respiratory disease found in animals that have been shipped or exposed to cattle recently transported. The major agent responsible for the disease is mannheimia haemolytica and less commonly, pasteurella multocida or haemophilus somnus. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the lung. They are considered opportunistic pathogens following stress, physiological and/or a viral infection. The resulting bacterial fibrinous bronchopneumonia is often fatal.	MESH:D012766|UMLS:C0036969|EFO:0007449	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005925	http://identifiers.org/mesh/D012766|UMLS:C0036969	
UBERON:0014780	biolink:AnatomicalEntity	palatine aponeurosis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014780		
CHEBI:23354	biolink:ChemicalSubstance	coenzyme	A low-molecular-weight, non-protein organic compound participating in enzymatic reactions as dissociable acceptor or donor of chemical groups or electrons.		mondo.json	coenzymes|coenzyme	http://purl.obolibrary.org/obo/CHEBI_23354		
MONDO:0005924	biolink:Disease	obsolete pneumocystosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005924		
CHEBI:23359	biolink:ChemicalSubstance	colchicine	An  alkaloid that is a carbotricyclic compound comprising 5,6,7,9-tetrahydrobenzo[a]heptalene having four methoxy substituents at the 1-, 2-, 3- and 10-positions as well as an oxo group at the 9-position and an acetamido group at the 7-position. It has been isolated from the plants belonging to genus Colchicum.		mondo.json	N-(1,2,3,10-tetramethoxy-9-oxo-5,6,7,9-tetrahydrobenzo[a]heptalen-7-yl)acetamide	http://purl.obolibrary.org/obo/CHEBI_23359		
MONDO:0005921	biolink:Disease	Plasmodium vivax malaria	Malaria resulting from infection by Plasmodium vivax.	NCIT:C34800|EFO:0007445|UMLS:C0024537|SCTID:27052006|ICD9:084.1|ICD10CM:B51|DOID:12978|MESH:D016780	mondo.json	vivax malaria|malaria by Plasmodium vivax	http://purl.obolibrary.org/obo/MONDO_0005921	http://identifiers.org/snomedct/27052006|DOID:12978|http://identifiers.org/mesh/D016780|http://purl.bioontology.org/ontology/ICD10CM/B51|NCIT:C34800|UMLS:C0024537	
CHEBI:23357	biolink:ChemicalSubstance	cofactor	An organic molecule or ion (usually a metal ion) that is required by an enzyme for its activity. It may be attached either loosely (coenzyme) or tightly (prosthetic group).		mondo.json	cofactor|cofactors	http://purl.obolibrary.org/obo/CHEBI_23357		
MONDO:0005920	biolink:Disease	Plasmodium falciparum malaria	Malaria resulting from infection by Plasmodium falciparum.	EFO:0007444|UMLS:C0024535|DOID:14067|ICD9:084.0|ICD9:084.9|MESH:D016778|NCIT:C34798|SCTID:62676009	mondo.json	falciparum malaria|malignant tertian fever (finding)|Plasmodium falciparum malaria, unspecified|malaria fever, subtertian|falciparum malaria [malignant tertian]|malignant tertian fever	http://purl.obolibrary.org/obo/MONDO_0005920	http://identifiers.org/snomedct/62676009|http://identifiers.org/mesh/D016778|DOID:14067|NCIT:C34798|UMLS:C0024535	
MONDO:0017909	biolink:Disease	inherited glutathione synthetase deficiency	Glutathione synthetase deficiency is characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.	MESH:C536835|GARD:0010047|SCTID:234589002|Orphanet:32|UMLS:C0398746|NCIT:C128193	mondo.json	pyroglutamicaciduria|rare inborn error of glutathione synthase activity|inborn error of glutathione synthase activity|inborn glutathione synthase activity disorder|5-oxoprolinuria|inherited glutathione synthetase deficiency|pyroglutamic aciduria|oxoprolinase deficiency|GSSD|glutathione synthetase deficiency	http://purl.obolibrary.org/obo/MONDO_0017909	NCIT:C128193|UMLS:C0398746|http://identifiers.org/snomedct/234589002|http://identifiers.org/mesh/C536835|Orphanet:32	ordo_disease
HP:0031466	biolink:PhenotypicFeature	Impairment in personality functioning	A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning.		mondo.json		http://purl.obolibrary.org/obo/HP_0031466		
MONDO:0017905	biolink:Disease	X-linked mendelian susceptibility to mycobacterial diseases	X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males.	Orphanet:319605|SCTID:719814009|UMLS:C4304413|UMLS:CN203967	mondo.json	X-linked MSMD|mendelian susceptibility to mycobacterial diseases, X-linked	http://purl.obolibrary.org/obo/MONDO_0017905	UMLS:C4304413|http://identifiers.org/snomedct/719814009|Orphanet:319605|UMLS:CN203967	ordo_disease|predisposition
MONDO:0017906	biolink:Disease	amyloidosis cutis dyschromia	Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare.	ICD10EXP:L99.0*|Orphanet:319635|ICD10EXP:E85.4+	mondo.json	amyloidosis cutis dyschromica	http://purl.obolibrary.org/obo/MONDO_0017906	Orphanet:319635	ordo_disease
UBERON:0014783	biolink:AnatomicalEntity	cloacal muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014783		
MONDO:0017907	biolink:Disease	primary lymphoma of the conjunctiva	Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare.	UMLS:CN203974|Orphanet:319667|SCTID:763477007	mondo.json	conjunctiva primary organ-specific lymphoma|lymphoma of conjunctiva|conjunctiva lymphoma|primary lymphoid conjunctival tumor|primary organ-specific lymphoma of conjunctiva	http://purl.obolibrary.org/obo/MONDO_0017907	http://identifiers.org/snomedct/763477007|Orphanet:319667|UMLS:CN203974	ordo_disease
UBERON:0012125	biolink:AnatomicalEntity	dermatological-muscosal system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012125		
MONDO:0017908	biolink:Disease	obsolete hyperekplexia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017908		
MONDO:0017912	biolink:Disease	X-linked pure spastic paraplegia		Orphanet:320332	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017912	Orphanet:320332	ordo_group_of_disorders|disease_grouping
MONDO:0017913	biolink:Disease	pure or complex hereditary spastic paraplegia		UMLS:CN227219|Orphanet:320335	mondo.json	Pure or complex familial spastic paraplegia|Pure or complicated hereditary spastic paraplegia|Pure or complicated familial spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0017913	UMLS:CN227219|Orphanet:320335	disease_grouping|ordo_group_of_disorders
MONDO:0017914	biolink:Disease	pure or complex autosomal dominant spastic paraplegia		Orphanet:320342	mondo.json	Pure or complicated autosomal dominant spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0017914	Orphanet:320342	ordo_group_of_disorders|disease_grouping
MONDO:0017915	biolink:Disease	pure or complex autosomal recessive spastic paraplegia		Orphanet:320346	mondo.json	Pure or complicated autosomal recessive spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0017915	Orphanet:320346	disease_grouping|ordo_group_of_disorders
CHEBI:35337	biolink:ChemicalSubstance	central nervous system stimulant	Any drug that enhances the activity of the central nervous system.		mondo.json	analeptic|analeptics|central nervous system stimulant|analeptic drug|CNS stimulant|central stimulant|analeptic agent	http://purl.obolibrary.org/obo/CHEBI_35337		
MONDO:0017910	biolink:Disease	dehydrated hereditary stomatocytosis	Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.	DOID:0111575|SCTID:715526002|Orphanet:3202|GARD:0005623	mondo.json	hereditary xerocytosis|Desiccytosis hereditary|xerocytosis hereditary	http://purl.obolibrary.org/obo/MONDO_0017910	Orphanet:3202|DOID:0111575|http://identifiers.org/snomedct/715526002	ordo_disease|gard_rare
MONDO:0017911	biolink:Disease	obsolete cleft lip/palate-ectodermal dysplasia syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017911		
CHEBI:35338	biolink:ChemicalSubstance	amphetamines	Amines that constitute a class of central nervous system stimulants based on the structure of the parent amphetamine 1-phenylpropan-2-amine.		mondo.json	amphetamine drug	http://purl.obolibrary.org/obo/CHEBI_35338		
MONDO:0005919	biolink:Disease	placental insufficiency	Failure of the placenta to deliver an adequate supply of nutrients and oxygen to the fetus.	ICD9:762.2|SCTID:237292005|DOID:3891|UMLS:C0032051|EFO:0007443|MESH:D010927|Orphanet:439167	mondo.json	uteroplacental vascular insufficiency|insufficiency, placental	http://purl.obolibrary.org/obo/MONDO_0005919	DOID:3891|http://identifiers.org/snomedct/237292005|http://identifiers.org/mesh/D010927|Orphanet:439167|UMLS:C0032051	ordo_clinical_syndrome
MONDO:0005916	biolink:Disease	placenta accreta	The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize)	DOID:4744|NCIT:C26856|EFO:0007440|MESH:D010921|SCTID:70129008	mondo.json	placenta Percreta|placenta Increta|Percreta, placenta|accreta, placenta|Increta, placenta	http://purl.obolibrary.org/obo/MONDO_0005916	DOID:4744|http://identifiers.org/mesh/D010921|NCIT:C26856|http://identifiers.org/snomedct/70129008	
MONDO:0005915	biolink:Disease	pityriasis versicolor	A yeast infection usually manifested as a superficial skin infection. It may also present as a systemic infection in patients who are receiving total parenteral nutrition.	SCTID:56454009|EFO:0007439|ICD10CM:B36.0|NCIT:C82981|ICD9:111.0|UMLS:C0040262|DOID:9060|MESH:D014010	mondo.json	tinea versicolor|Malassezia furfur infection|infection by Pityrosporum furfur|infections, Malassezia furfur|tinea flava	http://purl.obolibrary.org/obo/MONDO_0005915	UMLS:C0040262|DOID:9060|http://identifiers.org/snomedct/56454009|http://purl.bioontology.org/ontology/ICD10CM/B36.0|http://identifiers.org/mesh/D014010|NCIT:C82981	
MONDO:0005918	biolink:Disease	placenta praevia	Abnormal placentation in which the placenta implants in the lower segment of the uterus (the zone of dilation) and may cover part or all of the opening of the cervix. It is often associated with serious antepartum bleeding and premature labor.	DOID:11060|NCIT:C26858|MESH:D010923|EFO:0007442|SCTID:36813001	mondo.json	placenta praevia|placenta previa	http://purl.obolibrary.org/obo/MONDO_0005918	DOID:11060|http://identifiers.org/snomedct/36813001|http://identifiers.org/mesh/D010923|NCIT:C26858	
MONDO:0005917	biolink:Disease	placenta disorder	A disease involving the placenta.	NCIT:C26857|ICD9:656.70|ICD9:646.9|EFO:0007441|GARD:0007402|MESH:D010922|DOID:780|SCTID:125586008	mondo.json	disease, placenta|placental disease|placenta disease|placental disorder|placenta disease or disorder|disorder of placenta|placental diseases|diseases, placenta|placenta disorder|diseases, placental|placenta diseases|disease of placenta|disorders, placenta|placenta disorders|disease or disorder of placenta|disease, placental|disorder, placenta	http://purl.obolibrary.org/obo/MONDO_0005917	DOID:780|http://identifiers.org/mesh/D010922|NCIT:C26857|http://identifiers.org/snomedct/125586008	
MONDO:0005934	biolink:Disease	obsolete pyruvate decarboxylase deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005934		
MONDO:0005933	biolink:Disease	pulmonary blastoma	A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary blastoma is divided into two subtypes: epithelial predominant and biphasic.	ICDO:8972/3|NCIT:C3732|UMLS:C0206629|DOID:4765|ICD9:162.9|SCTID:189815007|EFO:0007458|MESH:D018202|Orphanet:64741	mondo.json	blastoma of the lung|blastoma of lung|lung blastoma|Pneumoblastoma|pulmonary blastoma	http://purl.obolibrary.org/obo/MONDO_0005933	http://identifiers.org/mesh/D018202|Orphanet:64741|NCIT:C3732|http://identifiers.org/snomedct/189815007|DOID:4765|UMLS:C0206629	ordo_disease
CHEBI:23367	biolink:ChemicalSubstance	molecular entity	Any constitutionally or isotopically distinct atom, molecule, ion, ion pair, radical, radical ion, complex, conformer etc., identifiable as a separately distinguishable entity.		mondo.json	molecular entity|entidades moleculares|molecular entities|molekulare Entitaet|entidad molecular|entite moleculaire	http://purl.obolibrary.org/obo/CHEBI_23367		
MONDO:0005936	biolink:Disease	recurrent pneumonia	Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see mycobacterium avium complex;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae.	EFO:0007461|HP:0006532|SCTID:699014000	mondo.json	recurrent pneumonia|recurrent pneumonia (disease)	http://purl.obolibrary.org/obo/MONDO_0005936	http://identifiers.org/snomedct/699014000	
MONDO:0005935	biolink:Disease	obsolete reactive arthritis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005935		
UBERON:0014770	biolink:AnatomicalEntity	palpebral artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014770		
MONDO:0005930	biolink:Disease	obsolete postpoliomyelitis syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005930		
UBERON:0000127	biolink:AnatomicalEntity	facial nucleus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000127		
CHEBI:50967	biolink:ChemicalSubstance	non-covalently-bound molecular entity	Systems consisting of two or more molecular entities held together by non-covalent interactions.		mondo.json	non-covalently-bound molecular entities	http://purl.obolibrary.org/obo/CHEBI_50967		
MONDO:0005932	biolink:Disease	pseudorabies	A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals.	MESH:D011557|UMLS:C0033839|EFO:0007457	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005932	UMLS:C0033839|http://identifiers.org/mesh/D011557	
MONDO:0005931	biolink:Disease	obsolete progressive multifocal leukoencephalopathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005931		
UBERON:0014775	biolink:AnatomicalEntity	prosomere			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014775		
UBERON:0014776	biolink:AnatomicalEntity	midbrain neuromere			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014776		
UBERON:0014777	biolink:AnatomicalEntity	spinal neuromere			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014777		
MONDO:0017901	biolink:Disease	autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).	UMLS:CN203960|Orphanet:319569	mondo.json	autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1|IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency|autosomal recessive MSMD due to partial IFNgammaR1 deficiency|autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0017901	Orphanet:319569|UMLS:CN203960	ordo_disease|predisposition
CHEBI:35344	biolink:ChemicalSubstance	21-hydroxy steroid			mondo.json	21-hydroxy steroids|21-hydroxysteroids|21-Hydroxysteroid	http://purl.obolibrary.org/obo/CHEBI_35344		
HGNC:9438	biolink:NamedThing	PRKRA			mondo.json		http://identifiers.org/hgnc/9438		
MONDO:0017902	biolink:Disease	autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).	UMLS:CN203961|Orphanet:319574	mondo.json	autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2|autosomal recessive MSMD due to partial IFNgammaR2 deficiency|autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency|IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency	http://purl.obolibrary.org/obo/MONDO_0017902	Orphanet:319574|UMLS:CN203961	ordo_disease|predisposition
HGNC:9439	biolink:NamedThing	DNAJC3			mondo.json		http://identifiers.org/hgnc/9439		
CHEBI:35346	biolink:ChemicalSubstance	11beta-hydroxy steroid	Any 11-hydroxy steroid in which the hydroxy group at position 11 has beta- configuration.		mondo.json	11beta-Hydroxysteroid|an 11beta-hydroxysteroid|11beta-hydroxy steroids|11beta-hydroxysteroids	http://purl.obolibrary.org/obo/CHEBI_35346		
MONDO:0017903	biolink:Disease	autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).	Orphanet:319589|UMLS:CN203963	mondo.json	autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency|autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2|IFNGR2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency|autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency|autosomal dominant MSMD due to partial IFNgammaR2 deficiency	http://purl.obolibrary.org/obo/MONDO_0017903	Orphanet:319589|UMLS:CN203963	ordo_disease|predisposition
MONDO:0017904	biolink:Disease	steroid dehydrogenase deficiency-dental anomalies syndrome	Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease.	SCTID:723583009|UMLS:C2931508|Orphanet:3196|GARD:0005015|MESH:C537490	mondo.json	severe dental aberrations in familial steroid dehydrogenase deficiency|Lyngstadaas syndrome|steroid dehydrogenase deficiency dental anomalies	http://purl.obolibrary.org/obo/MONDO_0017904	UMLS:C2931508|http://identifiers.org/snomedct/723583009|Orphanet:3196|http://identifiers.org/mesh/C537490	ordo_disease
UBERON:0014768	biolink:AnatomicalEntity	superior palpebral vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014768		
UBERON:0014769	biolink:AnatomicalEntity	palpebral vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014769		
MONDO:0017900	biolink:Disease	autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency	Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).	Orphanet:319547|UMLS:CN203956	mondo.json	autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR2|MSMD due to complete interferon gamma receptor 2 deficiency|IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|MSMD due to complete IFNgammaR2 deficiency|Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency	http://purl.obolibrary.org/obo/MONDO_0017900	Orphanet:319547|UMLS:CN203956	ordo_disease|predisposition
MONDO:0005927	biolink:Disease	polyomavirus infectious disease	Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal).	UMLS:C0949804|MESH:D027601|EFO:0007451	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005927	UMLS:C0949804|http://identifiers.org/mesh/D027601	
MONDO:0005926	biolink:Disease	obsolete poliomyelitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005926		
UBERON:0002792	biolink:AnatomicalEntity	lumbar spinal cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002792		
MONDO:0005929	biolink:Disease	postpartum depression	A type of clinical depression that occurs after childbirth.	SCTID:279225001|NCIT:C92852|ICD10CM:F53|MESH:D019052|EFO:0007453|DOID:9478	mondo.json	postpartum depression|depression, post-partum|post-partum depression|post partum depression|post Natal depression|major depressive episode with peripartum onset|depression, post-Natal|postnatal depression|depressive episode with postpartum onset|maternity blues|post-Natal depression|depression, postnatal	http://purl.obolibrary.org/obo/MONDO_0005929	http://identifiers.org/mesh/D019052|http://identifiers.org/snomedct/279225001|NCIT:C92852|DOID:9478	
CHR:9606-chr19p13	biolink:NamedThing	19p13 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr19p13		
MONDO:0005928	biolink:Disease	post-thrombotic syndrome	A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous varicose veins are usually present. Leg pain may occur after long period of standing.	ICD9:459.11|ICD10CM:I87.0|SCTID:20427003|DOID:2364|EFO:0007452|ICD9:459.1|ICD9:459.10|ICD9:459.13|ICD9:459.12|MESH:D011186	mondo.json	postphlebetic syndrome with ulcer and inflammation|postphlebetic syndrome with inflammation|postphlebitic syndrome|venous stress disorder|postphlebetic syndrome with ulcer	http://purl.obolibrary.org/obo/MONDO_0005928	http://identifiers.org/mesh/D011186|http://purl.bioontology.org/ontology/ICD10CM/I87.0|DOID:2364|http://identifiers.org/snomedct/20427003	
CHEBI:35341	biolink:ChemicalSubstance	steroid	Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from squalene which is a triterpene.		mondo.json	Steroid|a steroid|steroids	http://purl.obolibrary.org/obo/CHEBI_35341		
MONDO:0005901	biolink:Disease	pasteurellosis	Infections with bacteria of the genus pasteurella.	EFO:0007424|ICD9:027.2|UMLS:C0030636|DOID:11055|ICD10CM:A28.0|SCTID:83172007|MESH:D010326	mondo.json	Pasteurella infectious disease|Pasteurella caused disease or disorder|Pasteurella disease or disorder|Pasteurella infection	http://purl.obolibrary.org/obo/MONDO_0005901	UMLS:C0030636|http://identifiers.org/mesh/D010326|DOID:11055|http://purl.bioontology.org/ontology/ICD10CM/A28.0|http://identifiers.org/snomedct/83172007	
MONDO:0005900	biolink:Disease	parotitis	Inflammation of the parotid glands.	EFO:0007423|DOID:10301|UMLS:C0030583|NCIT:C114281|MESH:D010309|SCTID:14756005	mondo.json	inflammation of parotid gland|parotid gland inflammation	http://purl.obolibrary.org/obo/MONDO_0005900	http://identifiers.org/snomedct/14756005|NCIT:C114281|http://identifiers.org/mesh/D010309|DOID:10301|UMLS:C0030583	
CHEBI:23334	biolink:ChemicalSubstance	cobalamins			mondo.json		http://purl.obolibrary.org/obo/CHEBI_23334		
MONDO:0005903	biolink:Disease	pericardial tuberculosis	Inflammation of the sac surrounding the heart (pericardium) due to mycobacterium tuberculosis infection. Pericarditis can lead to swelling (pericardial effusion), compression of the heart (cardiac tamponade), and preventing normal beating of the heart.	ICD9:017.90|EFO:0007426|UMLS:C0031049|MESH:D010495|SCTID:67256000|DOID:4962	mondo.json	tuberculous pericarditis	http://purl.obolibrary.org/obo/MONDO_0005903	DOID:4962|http://identifiers.org/mesh/D010495|UMLS:C0031049|http://identifiers.org/snomedct/67256000	
MONDO:0005902	biolink:Disease	peanut allergic reaction	Allergic reaction to peanuts that is triggered by the immune system.	DOID:4378|SCTID:91935009|EFO:0007425|UMLS:C0559470|MESH:D021183|ICD9:995.3	mondo.json	pigmented ciliary epithelial cell nut allergic reaction|nut allergic reaction of pigmented ciliary epithelial cell|allergy to peanuts|peanut allergy|peanut allergic reaction	http://purl.obolibrary.org/obo/MONDO_0005902	DOID:4378|http://identifiers.org/snomedct/91935009|http://identifiers.org/mesh/D021183|UMLS:C0559470	
UBERON:0000117	biolink:AnatomicalEntity	respiratory tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000117		
UBERON:0000118	biolink:AnatomicalEntity	lung bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000118		
UBERON:0000119	biolink:AnatomicalEntity	cell layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000119		
UBERON:0014765	biolink:AnatomicalEntity	crus of diaphragm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014765		
UBERON:0014766	biolink:AnatomicalEntity	right crus of diaphragm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014766		
UBERON:0014767	biolink:AnatomicalEntity	left crus of diaphragm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014767		
HP:0031481	biolink:PhenotypicFeature	Abnormal mitral valve physiology	Any functional anomaly of the mitral valve.		mondo.json		http://purl.obolibrary.org/obo/HP_0031481		
UBERON:0012102	biolink:AnatomicalEntity	buccal salivary gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012102		
HGNC:9449	biolink:NamedThing	PRNP			mondo.json		http://identifiers.org/hgnc/9449		
GO:0000902	biolink:NamedThing	cell morphogenesis	The developmental process in which the size or shape of a cell is generated and organized.		mondo.json	cellular morphogenesis	http://purl.obolibrary.org/obo/GO_0000902		
UBERON:0002786	biolink:AnatomicalEntity	root of abducens nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002786		
UBERON:0000124	biolink:AnatomicalEntity	epineurium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000124		
GO:0000904	biolink:NamedThing	cell morphogenesis involved in differentiation	The change in form (cell shape and size) that occurs when relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history.		mondo.json		http://purl.obolibrary.org/obo/GO_0000904		
UBERON:0000125	biolink:AnatomicalEntity	neural nucleus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000125		
UBERON:0002787	biolink:AnatomicalEntity	decussation of trochlear nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002787		
UBERON:0000126	biolink:AnatomicalEntity	cranial nerve nucleus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000126		
HGNC:9446	biolink:NamedThing	PRLR			mondo.json		http://identifiers.org/hgnc/9446		
UBERON:0000121	biolink:AnatomicalEntity	perineurium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000121		
UBERON:0000122	biolink:AnatomicalEntity	neuron projection bundle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000122		
MONDO:0005912	biolink:Disease	phencyclidine abuse	The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning.	EFO:0007436|ICD9:305.90|SCTID:7071007|DOID:5062|MESH:D010623	mondo.json	PCP abuse|phencyclidine abuse	http://purl.obolibrary.org/obo/MONDO_0005912	http://identifiers.org/mesh/D010623|http://identifiers.org/snomedct/7071007|DOID:5062	
UBERON:0000109	biolink:AnatomicalEntity	gastrula stage	A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm.		mondo.json	trilaminar blastocyst stage|trilaminar disk stage|trilaminar germ stage|blastocystis trilaminaris stage|trilaminar stage|trilaminar blastoderm stage	http://purl.obolibrary.org/obo/UBERON_0000109		
MONDO:0005911	biolink:Disease	pharyngoconjunctival fever	A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus.	DOID:13801|ICD9:077.2|NCIT:C34924|EFO:0007434|MESH:D000258|SCTID:70385007|UMLS:C0031351	mondo.json	pharyngoconjunctival fever|pharyngo-conjunctival fever|Adenoviral pharyngoconjunctivitis	http://purl.obolibrary.org/obo/MONDO_0005911	NCIT:C34924|DOID:13801|UMLS:C0031351|http://identifiers.org/snomedct/70385007|http://identifiers.org/mesh/D000258	
MONDO:0005914	biolink:Disease	Picornaviridae infectious disease	Virus diseases caused by the picornaviridae.	EFO:0007438|UMLS:C0031887|MESH:D010850	mondo.json	Picornaviridae infection|infections, Picornaviridae	http://purl.obolibrary.org/obo/MONDO_0005914	http://identifiers.org/mesh/D010850|UMLS:C0031887	
MONDO:0005913	biolink:Disease	phlebotomus fever	Influenza-like febrile viral disease caused by several members of the bunyaviridae family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii.	EFO:0007437|UMLS:C0030372|MESH:D010217|ICD10CM:A93.1|DOID:11360|ICD9:066.0|SCTID:407476002	mondo.json	pappataci fever|Sandfly-borne phleboviral disease|Sandfly fever|Sandfly-borne Bunyavirus fever|Sandfly-borne arboviral fever	http://purl.obolibrary.org/obo/MONDO_0005913	http://identifiers.org/mesh/D010217|DOID:11360|http://identifiers.org/snomedct/407476002|http://purl.bioontology.org/ontology/ICD10CM/A93.1|UMLS:C0030372	
UBERON:0000105	biolink:AnatomicalEntity	life cycle stage	A spatiotemporal region encompassing some part of the life cycle of an organism.		mondo.json	stage|developmental stage	http://purl.obolibrary.org/obo/UBERON_0000105		
UBERON:0000106	biolink:AnatomicalEntity	zygote stage	A stage at which the organism is a single cell produced by means of sexual reproduction.		mondo.json	zygote|fertilized egg stage|one-cell stage|zygotum|1-cell stage|one cell stage|fertilized egg stage	http://purl.obolibrary.org/obo/UBERON_0000106		
MONDO:0005910	biolink:Disease	phagocyte bactericidal dysfunction	Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas.	MESH:D010585|UMLS:C0031306|EFO:0007433|DOID:3262	mondo.json	phagocytic dysfunction	http://purl.obolibrary.org/obo/MONDO_0005910	DOID:3262|http://identifiers.org/mesh/D010585|UMLS:C0031306	
NCBITaxon:58262	biolink:OrganismalEntity	Culicoidini		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_58262		
UBERON:0000107	biolink:AnatomicalEntity	cleavage stage	The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula.		mondo.json		http://purl.obolibrary.org/obo/UBERON_0000107		
UBERON:0000108	biolink:AnatomicalEntity	blastula stage	An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence.		mondo.json		http://purl.obolibrary.org/obo/UBERON_0000108		
CHEBI:50949	biolink:ChemicalSubstance	serotonin uptake inhibitor	A compound that specifically inhibits the reuptake of serotonin in the brain. This increases the serotonin concentration in the synaptic cleft which then activates serotonin receptors to a greater extent.		mondo.json	SSRI|serotonin reuptake inhibitor	http://purl.obolibrary.org/obo/CHEBI_50949		
CHEBI:23341	biolink:ChemicalSubstance	cobamides			mondo.json		http://purl.obolibrary.org/obo/CHEBI_23341		
UBERON:0000112	biolink:AnatomicalEntity	sexually immature stage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000112		
MONDO:0005909	biolink:Disease	pestivirus infectious disease	Infections with viruses of the genus pestivirus, family flaviviridae.	MESH:D018182|UMLS:C0206611|EFO:0007432	mondo.json	Pestivirus disease or disorder|infection, Pestivirus|infections, Pestivirus|Pestivirus infection|Pestivirus infectious disease|Pestivirus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005909	UMLS:C0206611|http://identifiers.org/mesh/D018182	
MONDO:0005908	biolink:Disease	peste des petits ruminants infectious disease	A highly fatal contagious disease of goats and sheep caused by peste-des-petits-ruminants virus. The disease may be acute or subacute and is characterized by stomatitis, conjunctivitis, diarrhea, and pneumonia.	EFO:0007431|UMLS:C0949885|MESH:D029021	mondo.json	Peste des petits ruminants|Pseudorinderpest|Small ruminant morbillivirus infectious disease|Small ruminant morbillivirus caused disease or disorder|Small ruminant morbillivirus disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005908	UMLS:C0949885|http://identifiers.org/mesh/D029021	
UBERON:0000113	biolink:AnatomicalEntity	post-juvenile adult stage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000113		
HGNC:9453	biolink:NamedThing	PRODH			mondo.json		http://identifiers.org/hgnc/9453		
UBERON:0000114	biolink:AnatomicalEntity	lung connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000114		
HGNC:9451	biolink:NamedThing	PROC			mondo.json		http://identifiers.org/hgnc/9451		
UBERON:0000115	biolink:AnatomicalEntity	lung epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000115		
MONDO:0005905	biolink:Disease	periodic limb movement disorder	Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387)	ICD9:327.51|EFO:0007428|SCTID:418763003|UMLS:C0751774|DOID:9207|ICD10CM:G47.61	mondo.json	nocturnal myoclonus	http://purl.obolibrary.org/obo/MONDO_0005905	http://identifiers.org/snomedct/418763003|UMLS:C0751774|http://purl.bioontology.org/ontology/ICD10CM/G47.61|DOID:9207	
HGNC:9456	biolink:NamedThing	PROS1			mondo.json		http://identifiers.org/hgnc/9456		
MONDO:0005904	biolink:Disease	pericarditis	An inflammatory process affecting the pericardium.	EFO:0007427|UMLS:C0031046|HP:0001701|Orphanet:58208|DOID:1787|SCTID:3238004|NCIT:C34915|MESH:D010493	mondo.json	inflammation of pericardium|pericarditis|pericardium inflammation|pericarditis (disease)	http://purl.obolibrary.org/obo/MONDO_0005904	http://identifiers.org/snomedct/3238004|NCIT:C34915|http://identifiers.org/mesh/D010493|DOID:1787|Orphanet:58208|UMLS:C0031046	
HGNC:9457	biolink:NamedThing	PLPBP			mondo.json		http://identifiers.org/hgnc/9457		
MONDO:0005907	biolink:Disease	persian gulf syndrome	Unexplained symptoms reported by veterans of the Persian Gulf War with Iraq in 1991. The symptoms reported include fatigue, skin rash, muscle and joint pain, headaches, loss of memory, shortness of breath, gastrointestinal and respiratory symptoms, and extreme sensitivity to commonly occurring chemicals. (Nature 1994 May 5;369(6475):8)	DOID:4491|UMLS:C0282550|MESH:D018923|ICD9:300.89|SCTID:95877004|EFO:0007430	mondo.json	Gulf war syndrome	http://purl.obolibrary.org/obo/MONDO_0005907	UMLS:C0282550|DOID:4491|http://identifiers.org/snomedct/95877004|http://identifiers.org/mesh/D018923	
HGNC:9454	biolink:NamedThing	PROM1			mondo.json		http://identifiers.org/hgnc/9454		
UBERON:0000110	biolink:AnatomicalEntity	neurula stage	Staged defined by the formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system.		mondo.json		http://purl.obolibrary.org/obo/UBERON_0000110		
MONDO:0005906	biolink:Disease	peritonsillar abscess	An abscess that develops in the space surrounding one or both palatine tonsils.	EFO:0007429|UMLS:C0031157|ICD10CM:J36|MESH:D000039|NCIT:C128322|SCTID:15033003|ICD9:475	mondo.json	quinsy	http://purl.obolibrary.org/obo/MONDO_0005906	http://identifiers.org/mesh/D000039|NCIT:C128322|http://identifiers.org/snomedct/15033003|http://purl.bioontology.org/ontology/ICD10CM/J36|UMLS:C0031157	
UBERON:0000111	biolink:AnatomicalEntity	organogenesis stage	A stage at which the ectoderm, endoderm, and mesoderm develop into the internal organs of the organism.		mondo.json	segmentation stage	http://purl.obolibrary.org/obo/UBERON_0000111		
UBERON:0002772	biolink:AnatomicalEntity	olfactory sulcus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002772		
HGNC:9455	biolink:NamedThing	PROP1			mondo.json		http://identifiers.org/hgnc/9455		
OBO:ECTO_0000689	biolink:NamedThing	exposure to P450 inhibitor	An exposure to P450 inhibitor.		mondo.json	exposure to P450 inhibitor	http://purl.obolibrary.org/obo/ECTO_0000689		
NCBITaxon:2916678	biolink:OrganismalEntity	CUG-Ser1 clade		GC_ID:12|PMID:29760453|PMID:33607033	mondo.json	CTG clade	http://purl.obolibrary.org/obo/NCBITaxon_2916678		
GO:0034311	biolink:NamedThing	diol metabolic process	The chemical reactions and pathways involving a diol, a compound that contains two hydroxy groups, generally assumed to be, but not necessarily, alcoholic.		mondo.json	dihydric alcohol metabolic process|diol metabolism	http://purl.obolibrary.org/obo/GO_0034311		
HGNC:30587	biolink:NamedThing	SNIP1			mondo.json		http://identifiers.org/hgnc/30587		
OBO:ECTO_0000699	biolink:NamedThing	exposure to probe	An exposure to probe.		mondo.json	exposure to probe	http://purl.obolibrary.org/obo/ECTO_0000699		
CHR:9606-chr20p13	biolink:NamedThing	20p13 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr20p13		
CHR:9606-chr20p12	biolink:NamedThing	20p12 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr20p12		
GO:0034308	biolink:NamedThing	primary alcohol metabolic process	The chemical reactions and pathways involving primary alcohols. A primary alcohol is any alcohol in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it.		mondo.json	monohydric alcohol metabolic process|primary alcohol metabolism	http://purl.obolibrary.org/obo/GO_0034308		
GO:0034309	biolink:NamedThing	primary alcohol biosynthetic process	The chemical reactions and pathways resulting in the formation of primary alcohols. A primary alcohol is any alcohol in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it.		mondo.json	primary alcohol synthesis|monohydric alcohol biosynthetic process|primary alcohol formation|primary alcohol biosynthesis|primary alcohol anabolism	http://purl.obolibrary.org/obo/GO_0034309		
HGNC:29597	biolink:NamedThing	IRGM			mondo.json		http://identifiers.org/hgnc/29597		
HGNC:29594	biolink:NamedThing	UQCRQ			mondo.json		http://identifiers.org/hgnc/29594		
HGNC:30578	biolink:NamedThing	EXPH5			mondo.json		http://identifiers.org/hgnc/30578		
HGNC:17582	biolink:NamedThing	KAT6B			mondo.json		http://identifiers.org/hgnc/17582		
HGNC:29569	biolink:NamedThing	LIPT1			mondo.json		http://identifiers.org/hgnc/29569		
UBERON:0014701	biolink:AnatomicalEntity	extraembryonic vascular system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014701		
HGNC:29561	biolink:NamedThing	ARV1			mondo.json		http://identifiers.org/hgnc/29561		
GO:0010324	biolink:NamedThing	membrane invagination	The infolding of a membrane.		mondo.json	single-organism membrane invagination	http://purl.obolibrary.org/obo/GO_0010324		
OBO:ECTO_0000672	biolink:NamedThing	exposure to agonist	An exposure to agonist.		mondo.json	exposure to agonist	http://purl.obolibrary.org/obo/ECTO_0000672		
UBERON:0002722	biolink:AnatomicalEntity	trochlear nucleus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002722		
HGNC:30546	biolink:NamedThing	FDX2			mondo.json		http://identifiers.org/hgnc/30546		
OBO:ECTO_0010003	biolink:NamedThing	exposure to environmental physical object quality	A exposure event involving the interaction of an exposure receptor to physical object quality.		mondo.json	physical object quality exposure	http://purl.obolibrary.org/obo/ECTO_0010003		
OBO:ECTO_0010002	biolink:NamedThing	exposure to environmental process quality	A exposure event involving the interaction of an exposure receptor to process quality.		mondo.json	process quality exposure	http://purl.obolibrary.org/obo/ECTO_0010002		
OBO:ECTO_0010001	biolink:NamedThing	exposure to qualitative environmental quality	A exposure event involving the interaction of an exposure receptor to qualitative.		mondo.json	qualitative exposure	http://purl.obolibrary.org/obo/ECTO_0010001		
OBO:ECTO_0010000	biolink:NamedThing	exposure to environmental quality	A exposure event involving the interaction of an exposure receptor to quality.		mondo.json	quality exposure	http://purl.obolibrary.org/obo/ECTO_0010000		
HGNC:30551	biolink:NamedThing	TXNL4A			mondo.json		http://identifiers.org/hgnc/30551		
HGNC:30539	biolink:NamedThing	DNAAF1			mondo.json		http://identifiers.org/hgnc/30539		
OBO:mondo#disease_has_major_feature	biolink:NamedThing	disease has major feature			mondo.json		http://purl.obolibrary.org/obo/mondo#disease_has_major_feature		
GO:0000981	biolink:NamedThing	DNA-binding transcription factor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.		mondo.json	RNA polymerase II transcription factor activity, sequence-specific transcription regulatory region DNA binding|transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding|transcription factor|transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity|sequence-specific distal enhancer binding RNA polymerase II transcription factor activity|metal ion regulated sequence-specific DNA binding RNA polymerase II transcription factor activity|RNA polymerase II transcription factor activity, metal ion regulated proximal promoter sequence-specific DNA binding|copper ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity|RNA polymerase II transcription factor activity, metal ion regulated core promoter proximal region sequence-specific binding|RNA polymerase II transcription factor activity, zinc ion regulated core promoter proximal region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|RNA polymerase II transcription factor activity, copper ion regulated proximal promoter sequence-specific DNA binding|metal ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity|RNA polymerase II transcription factor activity, copper ion regulated core promoter proximal region sequence-specific binding|zinc ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity|RNA polymerase II transcription factor activity, zinc ion regulated proximal promoter sequence-specific DNA binding|RNA polymerase II transcription factor activity, metal ion regulated sequence-specific DNA binding|transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity|RNA polymerase II transcription factor activity, sequence-specific DNA binding	http://purl.obolibrary.org/obo/GO_0000981		
GO:0009311	biolink:NamedThing	oligosaccharide metabolic process	The chemical reactions and pathways involving oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages.		mondo.json	oligosaccharide metabolism|multicellular organismal oligosaccharide metabolic process	http://purl.obolibrary.org/obo/GO_0009311		
OBA:0100003	biolink:NamedThing	anatomical entity attribute	The quality of a anatomical entity.		mondo.json	quality of anatomical entity	http://purl.obolibrary.org/obo/OBA_0100003		
GO:0009314	biolink:NamedThing	response to radiation	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electromagnetic radiation stimulus. Electromagnetic radiation is a propagating wave in space with electric and magnetic components. These components oscillate at right angles to each other and to the direction of propagation.		mondo.json	response to radiation stimulus|response to electromagnetic radiation stimulus	http://purl.obolibrary.org/obo/GO_0009314		
HP:0006476	biolink:PhenotypicFeature	Abnormality of the pancreatic islet cells	An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin.	UMLS:C4025043	mondo.json		http://purl.obolibrary.org/obo/HP_0006476		
OBO:ECTO_0000650	biolink:NamedThing	exposure to Bronsted acid	An exposure to Bronsted acid.		mondo.json	exposure to Bronsted acid	http://purl.obolibrary.org/obo/ECTO_0000650		
HP:0031409	biolink:PhenotypicFeature	Abnormal lymphocyte physiology	Any anomaly of lymphocyte function.		mondo.json		http://purl.obolibrary.org/obo/HP_0031409		
GO:0000988	biolink:NamedThing	obsolete transcription factor activity, protein binding	OBSOLETE. Binding to a protein or protein complex, to modulate transcription. A protein binding transcription factor may or may not also interact with the template nucleic acid (either DNA or RNA) as well.		mondo.json	protein binding transcription factor activity|transcription factor activity	http://purl.obolibrary.org/obo/GO_0000988		
HGNC:30528	biolink:NamedThing	DNAJC19			mondo.json		http://identifiers.org/hgnc/30528		
OBO:ECTO_0000657	biolink:NamedThing	exposure to disinfectant	An exposure to disinfectant.		mondo.json	exposure to disinfectant	http://purl.obolibrary.org/obo/ECTO_0000657		
HGNC:29557	biolink:NamedThing	NEXN			mondo.json		http://identifiers.org/hgnc/29557		
HP:0006487	biolink:PhenotypicFeature	Bowing of the long bones	A bending or abnormal curvature of a long bone.	UMLS:C1855340	mondo.json	Diaphyseal bowing|Bowing of long bones|Bowing of the long bones|Camptomelia|Diaphyseal bowing of long bones|Bowed long bones	http://purl.obolibrary.org/obo/HP_0006487		
HP:0006483	biolink:PhenotypicFeature	Abnormal number of teeth	The presence of an altered number of of teeth.	SNOMEDCT_US:335443002|UMLS:C1290508	mondo.json	Abnormal number of teeth|Abnormal complement of teeth|Abnormal tooth count	http://purl.obolibrary.org/obo/HP_0006483		
MONDO:0003388	biolink:Disease	ampulla of vater clear cell adenocarcinoma	A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of glycogen-rich cells with hyperchromatic nuclei.	UMLS:C1332246|NCIT:C27414|DOID:5308	mondo.json	hepatopancreatic ampulla clear cell adenocarcinoma|ampulla of Vater clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003388	NCIT:C27414|UMLS:C1332246|DOID:5308	
GO:1900118	biolink:NamedThing	negative regulation of execution phase of apoptosis	Any process that stops, prevents or reduces the frequency, rate or extent of execution phase of apoptosis.		mondo.json	downregulation of execution phase of apoptosis|down regulation of execution phase of apoptosis|inhibition of execution phase of apoptosis|down-regulation of execution phase of apoptosis	http://purl.obolibrary.org/obo/GO_1900118		
MONDO:0003389	biolink:Disease	epithelial-myoepithelial carcinoma	A malignant neoplasm which occurs mostly in the major salivary glands (most frequently in the parotid gland), but also in the minor salivary glands of the oral mucosa and the tracheobronchial tree. It is characterized by the presence of ductal structures which are lined by an inner layer of cuboidal epithelial-type cells and an outer layer of myoepithelial cells with clear or eosinophilic cytoplasm.	GARD:0006364|ONCOTREE:EMYOCA|DOID:5309|NCIT:C4199|UMLS:C0334392|ICDO:8562/3	mondo.json	epithelial-myoepithelial carcinoma|EMYOCA	http://purl.obolibrary.org/obo/MONDO_0003389	NCIT:C4199|UMLS:C0334392|DOID:5309	
GO:1900117	biolink:NamedThing	regulation of execution phase of apoptosis	Any process that modulates the frequency, rate or extent of execution phase of apoptosis.		mondo.json		http://purl.obolibrary.org/obo/GO_1900117		
GO:1900119	biolink:NamedThing	positive regulation of execution phase of apoptosis	Any process that activates or increases the frequency, rate or extent of execution phase of apoptosis.		mondo.json	up regulation of execution phase of apoptosis|up-regulation of execution phase of apoptosis|activation of execution phase of apoptosis|upregulation of execution phase of apoptosis	http://purl.obolibrary.org/obo/GO_1900119		
HGNC:29643	biolink:NamedThing	MLPH			mondo.json		http://identifiers.org/hgnc/29643		
MONDO:0003384	biolink:Disease	uterine ligament clear cell adenocarcinoma	A clear cell adenocarcinoma of the uterine ligament composed mainly of clear or hobnob cells. The clear cells are large, bizarre, and multinucleated.	NCIT:C40139|UMLS:C1519867|DOID:5302	mondo.json	uterine ligament clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003384	NCIT:C40139|DOID:5302|UMLS:C1519867	
MONDO:0003385	biolink:Disease	obsolete cervical clear cell adenocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003385		
GO:1900116	biolink:NamedThing	extracellular negative regulation of signal transduction	Any negative regulation of signal transduction that takes place in extracellular region.		mondo.json	down-regulation of signal transduction in extracellular region|negative regulation of signaling pathway in extracellular region|negative regulation of signalling pathway in extracellular region|down regulation of signal transduction in extracellular region|extracellular inhibition of signaling pathway|inhibition of signal transduction in extracellular region|downregulation of signal transduction in extracellular region	http://purl.obolibrary.org/obo/GO_1900116		
MONDO:0003386	biolink:Disease	bladder clear cell adenocarcinoma	A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells distributed in a tubulo-cystic, papillary, or diffuse pattern. There is a female predilection. Clinical presentation includes hematuria and dysuria.	NCIT:C6179|DOID:5306|UMLS:C1332557	mondo.json	bladder clear cell adenocarcinoma|urinary bladder clear cell adenocarcinoma|clear cell adenocarcinoma of the urinary bladder|clear cell adenocarcinoma of urinary bladder|clear cell adenocarcinoma of the bladder|clear cell adenocarcinoma of bladder|bladder mesonephric adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003386	DOID:5306|UMLS:C1332557|NCIT:C6179	
MONDO:0003387	biolink:Disease	urethra clear cell adenocarcinoma	A morphologic variant of urethral adenocarcinoma characterized by the presence of tubulocystic or papillary structures lined with clear cuboidal or hobnail cells.	DOID:5307|NCIT:C6172|UMLS:C1336886	mondo.json	urethral clear cell adenocarcinoma|clear cell adenocarcinoma of the urethra|clear cell adenocarcinoma of urethra|urethra clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003387	UMLS:C1336886|DOID:5307|NCIT:C6172	
GO:1900115	biolink:NamedThing	extracellular regulation of signal transduction	Any regulation of signal transduction that takes place in the extracellular region.		mondo.json	regulation of signaling pathway in extracellular region|regulation of signalling pathway in extracellular region	http://purl.obolibrary.org/obo/GO_1900115		
MONDO:0003380	biolink:Disease	obsolete endometrial clear cell adenocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003380		
MONDO:0003381	biolink:Disease	pituitary gland disorder	A disease involving the pituitary gland.	ICD9:253.1|ICD9:253.9|ICD9:253.8|NCIT:C26854|SCTID:399244003|DOID:53|MESH:D010900	mondo.json	disease or disorder of pituitary gland|pituitary gland disorder|pituitary gland disease|pituitary disease|disease of pituitary gland|pituitary gland disease or disorder|disorder of pituitary gland	http://purl.obolibrary.org/obo/MONDO_0003381	DOID:53|NCIT:C26854|http://identifiers.org/snomedct/399244003|http://identifiers.org/mesh/D010900	
MONDO:0003382	biolink:Disease	eyelid disorder	A disease involving the eyelid.	MESH:D005141|DOID:530|NCIT:C26768|ICD9:374.89|SCTID:60113004|ICD9:374.9|ICD10CM:H00	mondo.json	disease of eyelid|disease or disorder of eyelid|eyelid disease|eyelid disorder|eyelid disease or disorder|disorder of eyelid	http://purl.obolibrary.org/obo/MONDO_0003382	NCIT:C26768|DOID:530|http://identifiers.org/snomedct/60113004|http://purl.bioontology.org/ontology/ICD10CM/H00|http://identifiers.org/mesh/D005141	
MONDO:0027353	biolink:Disease	autosomal recessive dyskeratosis congenita 4	A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33.	OMIM:613989|DOID:0070021	mondo.json	DKCB4	http://purl.obolibrary.org/obo/MONDO_0027353	DOID:0070021	
MONDO:0003383	biolink:Disease	fallopian tube clear cell adenocarcinoma	A rare adenocarcinoma of the fallopian tube composed of malignant glandular epithelium containing clear cells.	UMLS:C1333591|NCIT:C6280|DOID:5301	mondo.json	clear cell carcinoma of the fallopian tube|clear cell adenocarcinoma of fallopian tube|fallopian tube clear cell carcinoma|clear cell adenocarcinoma of the fallopian tube|fallopian tube clear cell adenocarcinoma|clear cell carcinoma of fallopian tube	http://purl.obolibrary.org/obo/MONDO_0003383	UMLS:C1333591|DOID:5301|NCIT:C6280	
MONDO:0015379	biolink:Disease	cervical dermoid cyst	Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia.	Orphanet:141046|SCTID:763129001	mondo.json	dermoid cyst of the neck	http://purl.obolibrary.org/obo/MONDO_0015379	http://identifiers.org/snomedct/763129001|Orphanet:141046	ordo_morphological_anomaly
MONDO:0015378	biolink:Disease	fourth branchial cleft anomaly		SCTID:707234001|Orphanet:141037	mondo.json	fourth branchial cleft cyst|fourth branchial cleft fistula	http://purl.obolibrary.org/obo/MONDO_0015378	http://identifiers.org/snomedct/707234001|Orphanet:141037	ordo_morphological_anomaly
MONDO:0015373	biolink:Disease	obsolete Saldino-Mainzer syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015373		
MONDO:0015372	biolink:Disease	autosomal dominant macrothrombocytopenia	This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.	SCTID:720521008|OMIM:187800|UMLS:CN199474|UMLS:C4304021|Orphanet:140957	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015372	http://identifiers.org/snomedct/720521008|UMLS:C4304021|Orphanet:140957|UMLS:CN199474	ordo_disease
MONDO:0015371	biolink:Disease	linear atrophoderma of Moulin	Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene.	SCTID:403395007|UMLS:C1274753|Orphanet:140933	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015371	UMLS:C1274753|Orphanet:140933|http://identifiers.org/snomedct/403395007	ordo_disease
MONDO:0015370	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0015370		
MONDO:0015377	biolink:Disease	third branchial cleft anomaly		SCTID:73391000119102|Orphanet:141030	mondo.json	third branchial cleft fistula|third branchial cleft cyst	http://purl.obolibrary.org/obo/MONDO_0015377	Orphanet:141030|http://identifiers.org/snomedct/73391000119102	ordo_morphological_anomaly
MONDO:0015376	biolink:Disease	first branchial cleft anomaly		Orphanet:141013|SCTID:73371000119103	mondo.json	first branchial cleft cyst|first branchial cleft fistula	http://purl.obolibrary.org/obo/MONDO_0015376	Orphanet:141013|http://identifiers.org/snomedct/73371000119103	ordo_morphological_anomaly
MONDO:0015375	biolink:Disease	orofaciodigital syndrome	Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.	MESH:D009958|Orphanet:140997|ICD9:759.89|DOID:4501|OMIMPS:311200|SCTID:52868006|GARD:0010692	mondo.json	orofaciodigital syndrome|orofaciodigital syndromes|OFD|oral-facial-digital syndromes|oral facial digital syndromes|oral-facial-digital syndrome	http://purl.obolibrary.org/obo/MONDO_0015375	http://identifiers.org/snomedct/52868006|https://omim.org/phenotypicSeries/PS311200|Orphanet:140997|http://identifiers.org/mesh/D009958|DOID:4501	ordo_group_of_disorders|disease_grouping
MONDO:0015374	biolink:Disease	primary central nervous system vasculitis		MESH:C537295|MESH:D020293|GARD:0008703|Orphanet:140989	mondo.json	PCNSV|primary vasculitis of the central nervous system|primary CNS vasculitis|primary angiitis of the central nervous system|granulomatous angiitis of the central nervous system|primary central nervous system vasculitis|isolated angiitis of the central nervous system|PACNS	http://purl.obolibrary.org/obo/MONDO_0015374	http://identifiers.org/mesh/C537295|Orphanet:140989	ordo_disease|gard_rare
SO:1000002	biolink:SequenceFeature	substitution	A sequence alteration where the length of the change in the variant is the same as that of the reference.		mondo.json		http://purl.obolibrary.org/obo/SO_1000002		
MONDO:0003399	biolink:Disease	pineal region yolk sac tumor	A yolk sac tumor that involves the pineal body.	DOID:5341|NCIT:C6752|UMLS:C1335420	mondo.json	pineal region yolk Sac neoplasm|pineal endodermal sinus neoplasm|endodermal sinus tumor of the pineal region|pineal body yolk sac tumor|endodermal sinus tumor of pineal region|pineal region endodermal sinus neoplasm|yolk Sac tumor of the pineal region|yolk Sac tumor of pineal region|pineal region endodermal sinus tumor|pineal region yolk sac tumor|pineal endodermal sinus tumor	http://purl.obolibrary.org/obo/MONDO_0003399	NCIT:C6752|UMLS:C1335420|DOID:5341	
SO:1000008	biolink:SequenceFeature	point_mutation	A single nucleotide change which has occurred at the same position of a corresponding nucleotide in a reference sequence.		mondo.json	point mutation	http://purl.obolibrary.org/obo/SO_1000008		
HGNC:29659	biolink:NamedThing	MESP2			mondo.json		http://identifiers.org/hgnc/29659		
MONDO:0003395	biolink:Disease	testicular granulosa cell tumor	A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile.	EFO:1000567|NCIT:C6357|UMLS:C1336709|DOID:5331	mondo.json	granulosa cell neoplasm of testis|testicular granulosa cell neoplasm|granulosa cell neoplasm of the testis|granulosa cell tumor of the testis|testis granulosa cell tumor|granulosa cell tumor of testis|testicular granulosa cell tumor	http://purl.obolibrary.org/obo/MONDO_0003395	UMLS:C1336709|DOID:5331|NCIT:C6357	
NCBITaxon:12967	biolink:OrganismalEntity	Blastocystis		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_12967		
MONDO:0003396	biolink:Disease	epulis	A non-neoplastic nodular lesion that arises from the gingiva.	NCIT:C3948|DOID:5337|UMLS:C0266919|SCTID:45676007|ICD9:523.8	mondo.json	epulides|gingival polyp|gum polyp|polyp of the gum|gingiva polyp|polyp of gum|polyp of the gingiva|polyp of gingiva	http://purl.obolibrary.org/obo/MONDO_0003396	NCIT:C3948|DOID:5337|UMLS:C0266919|http://identifiers.org/snomedct/45676007	
MONDO:0003397	biolink:Disease	gingival hypertrophy	Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells.	UMLS:C0017567|MESH:D005886|DOID:5338	mondo.json	hypertrophy of gingivae	http://purl.obolibrary.org/obo/MONDO_0003397	http://identifiers.org/mesh/D005886|UMLS:C0017567|DOID:5338	
MONDO:0003398	biolink:Disease	anterograde amnesia	Loss of the ability to form new memories beyond a certain point in time. This condition may be organic or psychogenic in origin. Organically induced anterograde amnesia may follow craniocerebral trauma; seizures; anoxia; and other conditions which adversely affect neural structures associated with memory formation (e.g., the hippocampus; fornix (brain); mammillary bodies; and anterior thalamic nuclei). (From Memory 1997 Jan-Mar;5(1-2):49-71)	DOID:5340|MESH:D020324|ICD10CM:R41.1	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003398	http://identifiers.org/mesh/D020324|DOID:5340|http://purl.bioontology.org/ontology/ICD10CM/R41.1	
MONDO:0003391	biolink:Disease	vulvar alveolar soft part sarcoma	An alveolar soft part sarcoma arising from the vulva.	DOID:5313|NCIT:C40320|UMLS:C1520069	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003391	NCIT:C40320|DOID:5313|UMLS:C1520069	
GO:1900121	biolink:NamedThing	negative regulation of receptor binding	Any process that stops, prevents or reduces the frequency, rate or extent of a protein or other molecule binding to a receptor.		mondo.json	downregulation of receptor binding|down regulation of receptor-associated protein activity|down regulation of receptor binding|inhibition of receptor binding|down-regulation of receptor binding|inhibition of receptor ligand	http://purl.obolibrary.org/obo/GO_1900121		
MONDO:0003392	biolink:Disease	fallopian tube germ cell tumor	A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas.	NCIT:C40130|UMLS:C1517114|DOID:5324	mondo.json	fallopian tube germ cell cancer|fallopian tube germ cell tumor|fallopian tube germ cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0003392	NCIT:C40130|DOID:5324|UMLS:C1517114	
GO:1900120	biolink:NamedThing	regulation of receptor binding	Any process that modulates the frequency, rate or extent of a protein or other molecule binding to a receptor.		mondo.json	regulation of receptor ligand	http://purl.obolibrary.org/obo/GO_1900120		
MONDO:0003393	biolink:Disease	thymus gland disorder	A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma.	ICD9:254|NCIT:C26962|ICD9:254.9|UMLS:C0154199|DOID:533|SCTID:20673009	mondo.json	thymus disease|thymus disorder|Thymus disorder|disorder of thymus gland|disease of thymus gland|thymus disease or disorder|disorder of thymus|disease of thymus|disease or disorder of thymus	http://purl.obolibrary.org/obo/MONDO_0003393	NCIT:C26962|http://identifiers.org/snomedct/20673009|DOID:533|UMLS:C0154199	
GO:1900122	biolink:NamedThing	positive regulation of receptor binding	Any process that activates or increases the frequency, rate or extent of a protein or other molecule binding to a receptor.		mondo.json	up regulation of receptor binding|activation of receptor binding|upregulation of receptor binding	http://purl.obolibrary.org/obo/GO_1900122		
MONDO:0003394	biolink:Disease	dental pulp disorder	A disease involving the dental pulp.	SCTID:57203004|MESH:D003788|NCIT:C34530|ICD9:522.9|UMLS:C0011405|DOID:5330	mondo.json	dental pulp disease|disease or disorder of dental pulp|disease of dental pulp|disorder of pulp of tooth|dental pulp disease or disorder|dental pulp disorder|disorder of dental pulp|pulp disorder	http://purl.obolibrary.org/obo/MONDO_0003394	http://identifiers.org/mesh/D003788|DOID:5330|NCIT:C34530|UMLS:C0011405|http://identifiers.org/snomedct/57203004	
MONDO:0015369	biolink:Disease	Joubert syndrome and related disorders	Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.	Orphanet:140874|UMLS:CN199461	mondo.json	Joubert syndrome and related disorders|JSRD	http://purl.obolibrary.org/obo/MONDO_0015369	UMLS:CN199461|Orphanet:140874	ordo_group_of_disorders|disease_grouping
MONDO:0015368	biolink:Disease	neuro-ophthalmological disease		UMLS:CN199459|Orphanet:183616|Orphanet:140653	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015368	UMLS:CN199459|Orphanet:140653	ordo_group_of_disorders|disease_grouping
GO:1900130	biolink:NamedThing	regulation of lipid binding	Any process that modulates the frequency, rate or extent of lipid binding.		mondo.json		http://purl.obolibrary.org/obo/GO_1900130		
MONDO:0003390	biolink:Disease	glycogen-rich clear cell breast carcinoma	An uncommon, usually aggressive adenocarcinoma of the breast characterized by the presence of clear cells that contain glycogen.	ICDO:8315/3|UMLS:C0334319|UMLS:C1512224|NCIT:C40368|DOID:5310	mondo.json	glycogen-rich carcinoma|glycogen-rich carcinoma (morphologic abnormality)|glycogen-rich, clear cell breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0003390	NCIT:C40368|DOID:5310|UMLS:C1512224	
MONDO:0015367	biolink:Disease	Charlie M syndrome	Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis. The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976.	SCTID:733034007|GARD:0001261|Orphanet:1406|UMLS:CN199458|UMLS:C0221060|UMLS:C4518555	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015367	UMLS:CN199458|UMLS:C4518555|Orphanet:1406|http://identifiers.org/snomedct/733034007	gard_rare|ordo_malformation_syndrome
MONDO:0015362	biolink:Disease	autosomal dominant distal hereditary motor neuropathy	Autosomal dominant form of distal hereditary motor neuropathy.	DOID:0111198|UMLS:CN228930|Orphanet:140465	mondo.json	distal hereditary motor neuropathy, autosomal dominant|autosomal dominant distal hereditary motor neuropathy|autosomal dominant distal spinal muscular atrophy|autosomal dominant dHMN	http://purl.obolibrary.org/obo/MONDO_0015362	UMLS:CN228930|Orphanet:140465|DOID:0111198	disease_grouping|ordo_group_of_disorders
MONDO:0015361	biolink:Disease	autosomal recessive hereditary demyelinating motor and sensory neuropathy		Orphanet:140459|UMLS:CN228928	mondo.json	AR demyelinating HMSN	http://purl.obolibrary.org/obo/MONDO_0015361	UMLS:CN228928|Orphanet:140459	ordo_group_of_disorders|disease_grouping
MONDO:0015360	biolink:Disease	autosomal dominant hereditary axonal motor and sensory neuropathy		UMLS:CN228927|Orphanet:140456	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015360	UMLS:CN228927|Orphanet:140456	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0015366	biolink:Disease	autosomal recessive hereditary sensory and autonomic neuropathy	Autosomal recessive form of hereditary sensory and autonomic neuropathy.	Orphanet:140477|UMLS:CN228933	mondo.json	hereditary sensory and autonomic neuropathy, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0015366	UMLS:CN228933|Orphanet:140477	disease_grouping|ordo_group_of_disorders
MONDO:0015365	biolink:Disease	autosomal dominant hereditary sensory and autonomic neuropathy	Autosomal dominant form of hereditary sensory and autonomic neuropathy.	Orphanet:140474|UMLS:CN228932	mondo.json	hereditary sensory and autonomic neuropathy, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0015365	UMLS:CN228932|Orphanet:140474	disease_grouping|ordo_group_of_disorders
MONDO:0015364	biolink:Disease	hereditary sensory and autonomic neuropathy	An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome.	SCTID:11442006|OMIMPS:162400|UMLS:C0027889|DOID:0050548|GARD:0012688|ICD9:356.2|NCIT:C125386|Orphanet:140471|MESH:D009477	mondo.json	CIP|congenital pain insensitivity|congenital insensitivity to pain|HSAN|hereditary sensory peripheral neuropathy|indifference to pain, Congenital, autosomal recessive|hereditary sensory and autonomic neuropathy|hereditary sensory autonomic neuropathy|hereditary sensory neuropathy	http://purl.obolibrary.org/obo/MONDO_0015364	NCIT:C125386|http://identifiers.org/snomedct/11442006|Orphanet:140471|UMLS:C0027889|http://identifiers.org/mesh/D009477|DOID:0050548|https://omim.org/phenotypicSeries/PS162400	ordo_group_of_disorders|disease_grouping
GO:0034284	biolink:NamedThing	response to monosaccharide	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus.		mondo.json	response to monosaccharide stimulus	http://purl.obolibrary.org/obo/GO_0034284		
MONDO:0015363	biolink:Disease	autosomal recessive distal hereditary motor neuropathy	Autosomal recessive form of distal hereditary motor neuropathy.	Orphanet:140468|DOID:0111197|UMLS:CN228931	mondo.json	autosomal recessive distal spinal muscular atrophy|autosomal recessive dHMN|distal hereditary motor neuropathy, autosomal recessive|autosomal recessive dSMA	http://purl.obolibrary.org/obo/MONDO_0015363	UMLS:CN228931|Orphanet:140468|DOID:0111197	ordo_group_of_disorders|disease_grouping
SO:1000037	biolink:SequenceFeature	chromosomal_duplication	An extra chromosome.		mondo.json	(Drosophila)Dp|(fungi)Dp|chromosomal duplication	http://purl.obolibrary.org/obo/SO_1000037		
SO:1000036	biolink:SequenceFeature	inversion	A continuous nucleotide sequence is inverted in the same position.		mondo.json	inversion	http://purl.obolibrary.org/obo/SO_1000036		
MONDO:0003366	biolink:Disease	hydrarthrosis	Accumulation of watery fluid in the cavity of a joint. (Dorland, 27th ed)	ICD9:719.00|ICD9:719.08|MESH:D006833|DOID:528|SCTID:387637008	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003366	http://identifiers.org/mesh/D006833|http://identifiers.org/snomedct/387637008|DOID:528	
MONDO:0003367	biolink:Disease	gastric leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the stomach. It is characterized by a proliferation of neoplastic spindle cells.	HP:0031025|SCTID:447785000|NCIT:C27200|DOID:5280|UMLS:C0744295	mondo.json	gastric leiomyosarcoma|leiomyosarcoma of stomach|stomach leiomyosarcoma|gastric leiomyosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0003367	http://identifiers.org/snomedct/447785000|NCIT:C27200|UMLS:C0744295|DOID:5280	
MONDO:0003368	biolink:Disease	prostate leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the prostate. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C5526|DOID:5282|UMLS:C1335511	mondo.json	leiomyosarcoma of prostate gland|prostate gland leiomyosarcoma|leiomyosarcoma of the prostate|leiomyosarcoma of prostate|prostate leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003368	NCIT:C5526|UMLS:C1335511|DOID:5282	
MONDO:0003369	biolink:Disease	vagina leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the vagina. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C6326|DOID:5283|UMLS:C1336940	mondo.json	vagina leiomyosarcoma|vaginal leiomyosarcoma|leiomyosarcoma of the vagina|leiomyosarcoma of vagina	http://purl.obolibrary.org/obo/MONDO_0003369	NCIT:C6326|UMLS:C1336940|DOID:5283	
MONDO:0003362	biolink:Disease	cutaneous leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the skin. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C4484|HP:0006755|DOID:5273|UMLS:C0346067|SCTID:254771006	mondo.json	leiomyosarcoma of zone of skin|leiomyosarcoma of the skin|cutaneous leiomyosarcoma|leiomyosarcoma of skin|zone of skin leiomyosarcoma|cutaneous leiomyosarcoma (disease)|skin leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003362	NCIT:C4484|UMLS:C0346067|DOID:5273|http://identifiers.org/snomedct/254771006	
MONDO:0003363	biolink:Disease	malignant dermis tumor	A malignant neoplasm involving the dermis.	DOID:5274|SCTID:255096006|UMLS:C0346811|NCIT:C4574	mondo.json	malignant dermis neoplasm|malignant dermal neoplasm|malignant tumor of dermis|cancer of dermis|malignant tumor of the dermis|malignant neoplasm of dermis|malignant dermis tumor|malignant neoplasm of the dermis|dermis cancer	http://purl.obolibrary.org/obo/MONDO_0003363	http://identifiers.org/snomedct/255096006|NCIT:C4574|UMLS:C0346811|DOID:5274	
MONDO:0003364	biolink:Disease	gallbladder leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the gallbladder. It is characterized by a proliferation of neoplastic spindle cells.	DOID:5275|UMLS:C1333746|NCIT:C5841	mondo.json	leiomyosarcoma of gallbladder|leiomyosarcoma of gall bladder|gall bladder leiomyosarcoma|leiomyosarcoma of the gallbladder|gallbladder leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003364	NCIT:C5841|UMLS:C1333746|DOID:5275	
MONDO:0003365	biolink:Disease	esophagus leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the esophagus. It is characterized by a proliferation of neoplastic spindle cells.	DOID:5276|NCIT:C5334|UMLS:C1333454	mondo.json	esophageal leiomyosarcoma|leiomyosarcoma of esophagus|esophagus leiomyosarcoma|leiomyosarcoma of the esophagus	http://purl.obolibrary.org/obo/MONDO_0003365	NCIT:C5334|UMLS:C1333454|DOID:5276	
GO:1900132	biolink:NamedThing	positive regulation of lipid binding	Any process that activates or increases the frequency, rate or extent of lipid binding.		mondo.json	upregulation of lipid binding|up-regulation of lipid binding|up regulation of lipid binding|activation of lipid binding	http://purl.obolibrary.org/obo/GO_1900132		
NCBITaxon:12939	biolink:OrganismalEntity	Anemia		GC_ID:1	mondo.json	Mohria|Anemia, the fern with tired blood	http://purl.obolibrary.org/obo/NCBITaxon_12939		
GO:1900131	biolink:NamedThing	negative regulation of lipid binding	Any process that stops, prevents or reduces the frequency, rate or extent of lipid binding.		mondo.json	down-regulation of lipid binding|down regulation of lipid binding|inhibition of lipid binding|downregulation of lipid binding	http://purl.obolibrary.org/obo/GO_1900131		
MONDO:0003360	biolink:Disease	small intestine leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the small intestine. It is characterized by a proliferation of neoplastic spindle cells.	Orphanet:104076|DOID:5271|UMLS:C0920305|NCIT:C7085|SCTID:716651004	mondo.json	smooth muscle connective tissue tumor|small bowel leiomyosarcoma|leiomyosarcoma of the small intestine|small intestine leiomyosarcoma|leiomyosarcoma of the small bowel|leiomyosarcoma of small intestine|small intestinal leiomyosarcoma|leiomyosarcoma of small bowel	http://purl.obolibrary.org/obo/MONDO_0003360	DOID:5271|UMLS:C0920305|NCIT:C7085|Orphanet:104076|http://identifiers.org/snomedct/716651004	ordo_disease
MONDO:0003361	biolink:Disease	small intestinal sarcoma	A malignant soft tissue neoplasm that arises from the small intestine. Representative examples include leiomyosarcoma, angiosarcoma, and Kaposi sarcoma.	DOID:5272|UMLS:C1336007|NCIT:C5335	mondo.json	sarcoma of the small bowel|small bowel sarcoma|small intestine sarcoma|sarcoma of small bowel|sarcoma of the small intestine|sarcoma, small intestinal|sarcoma of small intestine|small intestinal sarcoma	http://purl.obolibrary.org/obo/MONDO_0003361	UMLS:C1336007|NCIT:C5335|DOID:5272	
MONDO:0015359	biolink:Disease	autosomal dominant hereditary demyelinating motor and sensory neuropathy		UMLS:CN228926|Orphanet:140453	mondo.json	AD demyelinating HMSN	http://purl.obolibrary.org/obo/MONDO_0015359	UMLS:CN228926|Orphanet:140453	ordo_group_of_disorders|disease_grouping
MONDO:0015358	biolink:Disease	hereditary motor and sensory neuropathy	A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)	Orphanet:140450|GARD:0012685|MESH:D015417|SCTID:398100001	mondo.json	HMSN	http://purl.obolibrary.org/obo/MONDO_0015358	http://identifiers.org/mesh/D015417|http://identifiers.org/snomedct/398100001|Orphanet:140450	disease_grouping|ordo_group_of_disorders
MONDO:0015357	biolink:Disease	secondary hypoparathyroidism due to impaired parathormon secretion		UMLS:CN242104|Orphanet:140286	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015357	Orphanet:140286|UMLS:CN242104	ordo_disease
MONDO:0015356	biolink:Disease	hereditary neoplastic syndrome	The inherited predisposition toward getting a tumor.	Orphanet:140162|MESH:D009386|SCTID:699346009|UMLS:CN199448|UMLS:C0027672|NCIT:C3266|UMLS:CN882908	mondo.json	familial tumor syndrome|hereditary cancer syndrome|syndrome, hereditary neoplastic|hereditary cancer syndromes|syndromes, hereditary neoplastic|neoplastic syndrome, hereditary|hereditary neoplastic syndrome|inherited cancer syndrome|syndrome, hereditary cancer|syndromes, hereditary cancer|hereditary neoplastic syndromes|hereditary tumor syndrome|familial neoplastic syndrome|cancer syndromes, hereditary|cancer syndrome, hereditary|inherited cancer-predisposing syndrome	http://purl.obolibrary.org/obo/MONDO_0015356	UMLS:CN199448|NCIT:C3266|UMLS:CN882908|Orphanet:140162|UMLS:C0027672|http://identifiers.org/mesh/D009386|http://identifiers.org/snomedct/699346009	ordo_group_of_disorders|disease_grouping|predisposition
HGNC:17646	biolink:NamedThing	NGLY1			mondo.json		http://identifiers.org/hgnc/17646		
MONDO:0015351	biolink:Disease	neuropathy with hearing impairment	This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.	SCTID:723497003|UMLS:CN199414|Orphanet:139512	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015351	Orphanet:139512|http://identifiers.org/snomedct/723497003|UMLS:CN199414	ordo_disease
MONDO:0015350	biolink:Disease	17q11.2 microduplication syndrome	17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.	OMIM:618874|Orphanet:139474|UMLS:C4304642|SCTID:719583002|UMLS:CN199408|OMIM:613675	mondo.json	Grisart-Destrée syndrome|trisomy 17q11.2|dup(17)(q11.2)|Grisart-Destree syndrome|chromosome 17q11.2 duplication syndrome, 1.4-mb|Nf1 Microduplication Syndrome	http://purl.obolibrary.org/obo/MONDO_0015350	Orphanet:139474|http://identifiers.org/snomedct/719583002|https://omim.org/entry/618874|UMLS:C4304642	ordo_malformation_syndrome
HGNC:17642	biolink:NamedThing	DCLRE1C			mondo.json		http://identifiers.org/hgnc/17642		
SO:1000045	biolink:SequenceFeature	ring_chromosome	A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome.		mondo.json	(fungi)C|ring chromosome|(Drosophila)R	http://purl.obolibrary.org/obo/SO_1000045		
MONDO:0015355	biolink:Disease	distal hereditary motor neuropathy type 7	Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.	Orphanet:139589|DOID:0111199|UMLS:CN199425	mondo.json	distal spinal muscular atrophy with vocal cord paralysis|dHMN7	http://purl.obolibrary.org/obo/MONDO_0015355	UMLS:CN199425|Orphanet:139589|DOID:0111199	ordo_disease
MONDO:0015354	biolink:Disease	hereditary sensory and autonomic neuropathy with deafness and global delay	This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.	UMLS:CN226662|SCTID:717826009|Orphanet:139573|UMLS:C4303566	mondo.json	HSAN with deafness and global delay	http://purl.obolibrary.org/obo/MONDO_0015354	Orphanet:139573|http://identifiers.org/snomedct/717826009|UMLS:CN226662|UMLS:C4303566	ordo_disease
MONDO:0015353	biolink:Disease	neuronopathy, distal hereditary motor, type 5A		DOID:0111204|OMIM:600794|UMLS:C1833308	mondo.json	distal spinal muscular atrophy type 5|neuropathy, distal hereditary motor, type 5A|spinal muscular atrophy, distal, type 5|distal HMN V|distal hereditary motor neuropathy type V|neuronopathy, distal hereditary motor, type 5A|neuronopathy, distal hereditary motor, type 5|dHMN 5A|spinal muscular atrophy, distal, with upper limb predominance|neuronopathy, distal hereditary motor, type VA|spinal muscular atrophy, distal, type 5A|HMN 5A|HMN5A|dHMN5	http://purl.obolibrary.org/obo/MONDO_0015353	https://omim.org/entry/600794|UMLS:C1833308|DOID:0111204	ordo_disease
MONDO:0015352	biolink:Disease	distal hereditary motor neuropathy type 2		MESH:C580044|Orphanet:139525|DOID:0111206	mondo.json	dHMN2|distal spinal muscular atrophy type 2|dSMA2	http://purl.obolibrary.org/obo/MONDO_0015352	Orphanet:139525|DOID:0111206|http://identifiers.org/mesh/C580044	ordo_disease
HGNC:30605	biolink:NamedThing	SEPSECS			mondo.json		http://identifiers.org/hgnc/30605		
MONDO:0003377	biolink:Disease	extrahepatic bile duct leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from an extrahepatic bile duct. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C5848|UMLS:C1333508|DOID:5293	mondo.json	leiomyosarcoma of extrahepatic bile duct|leiomyosarcoma of the extrahepatic bile duct|leiomyosarcoma of bile duct|extrahepatic bile duct leiomyosarcoma|bile duct leiomyosarcoma|leiomyosarcoma of the bile duct	http://purl.obolibrary.org/obo/MONDO_0003377	NCIT:C5848|UMLS:C1333508|DOID:5293	
MONDO:0003378	biolink:Disease	liver leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the liver. It is characterized by a proliferation of neoplastic spindle cells.	UMLS:C1333969|DOID:5296|NCIT:C5756	mondo.json	leiomyosarcoma of the liver|liver leiomyosarcoma|hepatic leiomyosarcoma|leiomyosarcoma of liver	http://purl.obolibrary.org/obo/MONDO_0003378	NCIT:C5756|DOID:5296|UMLS:C1333969	
MONDO:0003379	biolink:Disease	rectum leiomyosarcoma	An aggressive malignant smooth muscle neoplasm that arises from the rectum. It is characterized by a proliferation of neoplastic spindle cells.	DOID:5297|UMLS:C1335683|NCIT:C5549	mondo.json	rectum leiomyosarcoma|leiomyosarcoma of the rectum|rectal leiomyosarcoma|leiomyosarcoma of rectum	http://purl.obolibrary.org/obo/MONDO_0003379	NCIT:C5549|UMLS:C1335683|DOID:5297	
SO:1000029	biolink:SequenceFeature	chromosomal_deletion	An incomplete chromosome.		mondo.json	(bacteria)&ampDgr;|(fungi)D|deficiency|chromosomal deletion|(Drosophila)Df	http://purl.obolibrary.org/obo/SO_1000029		
SO:1000028	biolink:SequenceFeature	intrachromosomal_mutation	A chromosomal structure variation within a single chromosome.		mondo.json	intrachromosomal mutation	http://purl.obolibrary.org/obo/SO_1000028		
MONDO:0003373	biolink:Disease	kidney leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the kidney. It is characterized by a proliferation of neoplastic spindle cells.	UMLS:C1335743|DOID:5287|NCIT:C6183	mondo.json	leiomyosarcoma of the kidney|leiomyosarcoma of kidney|kidney leiomyosarcoma|renal leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003373	UMLS:C1335743|DOID:5287|NCIT:C6183	
MONDO:0003374	biolink:Disease	laryngeal leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the larynx. It is characterized by a proliferation of neoplastic spindle cells.	DOID:5288|UMLS:C1334371|NCIT:C6022	mondo.json	leiomyosarcoma of larynx|laryngeal leiomyosarcoma|larynx leiomyosarcoma|leiomyosarcoma of the larynx	http://purl.obolibrary.org/obo/MONDO_0003374	UMLS:C1334371|DOID:5288|NCIT:C6022	
MONDO:0003375	biolink:Disease	obsolete uterus leiomyosarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003375		
HGNC:29634	biolink:NamedThing	MEGF10			mondo.json		http://identifiers.org/hgnc/29634		
MONDO:0003376	biolink:Disease	mediastinum leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the mediastinum. It is characterized by a proliferation of neoplastic spindle cells.	UMLS:C1334660|NCIT:C6619|DOID:5292	mondo.json	mediastinal leiomyosarcoma|leiomyosarcoma of the mediastinum|mediastinum leiomyosarcoma|leiomyosarcoma of mediastinum	http://purl.obolibrary.org/obo/MONDO_0003376	NCIT:C6619|UMLS:C1334660|DOID:5292	
MONDO:0003370	biolink:Disease	retroperitoneal leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the retroperitoneum. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C27904|DOID:5284|UMLS:C2187547	mondo.json	retroperitoneal space leiomyosarcoma|leiomyosarcoma of retroperitoneal space|retroperitoneal leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003370	NCIT:C27904|DOID:5284|UMLS:C2187547	
MONDO:0003371	biolink:Disease	breast leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the breast. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C5186|UMLS:C1332631|DOID:5285	mondo.json	breast leiomyosarcoma|leiomyosarcoma of breast|leiomyosarcoma of the breast	http://purl.obolibrary.org/obo/MONDO_0003371	DOID:5285|UMLS:C1332631|NCIT:C5186	
MONDO:0003372	biolink:Disease	vulvar leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells.	DOID:5286|EFO:1001975|UMLS:C2168304|NCIT:C40318	mondo.json	leiomyosarcoma of mammalian vulva|mammalian vulva leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003372	UMLS:C2168304|NCIT:C40318|DOID:5286	
MONDO:0015348	biolink:Disease	leukoencephalopathy with bilateral anterior temporal lobe cysts	Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested.	Orphanet:139444	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015348	Orphanet:139444	ordo_disease
MONDO:0015347	biolink:Disease	multicentric reticulohistiocytosis	Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis.	SCTID:84241008|DOID:11824|UMLS:C0311284|GARD:0007103|NCIT:C27896|MedDRA:10070595|ICD9:713.0|Orphanet:139436|ICD9:272.8	mondo.json	multicentric reticulohistiocytosis|lipoid dermatoarthritis|giant cell histiocytomatosis	http://purl.obolibrary.org/obo/MONDO_0015347	UMLS:C0311284|http://identifiers.org/snomedct/84241008|Orphanet:139436|NCIT:C27896|DOID:11824	ordo_disease|gard_rare
MONDO:0015346	biolink:Disease	Jeavons syndrome	Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures.	SCTID:716278005|UMLS:C4274731|Orphanet:139431|MedDRA:10084303|UMLS:CN199399	mondo.json	eyelid myoclonia with and without absences|EMEA|epilepsy with eyelid myoclonias	http://purl.obolibrary.org/obo/MONDO_0015346	UMLS:CN199399|http://identifiers.org/snomedct/716278005|Orphanet:139431|http://identifiers.org/meddra/10084303|UMLS:C4274731	ordo_disease
MONDO:0015345	biolink:Disease	perioral myoclonia with absences	Perioral myoclonia with absences is a rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.	Orphanet:139426|SCTID:766815007	mondo.json	POMA	http://purl.obolibrary.org/obo/MONDO_0015345	Orphanet:139426|http://identifiers.org/snomedct/766815007	ordo_disease
MONDO:0015349	biolink:Disease	progressive cavitating leukoencephalopathy	Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability.	SCTID:719267003|Orphanet:139447|UMLS:C4304840	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015349	UMLS:C4304840|http://identifiers.org/snomedct/719267003|Orphanet:139447	ordo_disease
MONDO:0015340	biolink:Disease	drug rash with eosinophilia and systemic symptoms	DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6.	Orphanet:139402|MedDRA:10058919|SCTID:702809001|MESH:D063926	mondo.json	dress syndrome|drug reaction eosinophilic systemic syndrome	http://purl.obolibrary.org/obo/MONDO_0015340	Orphanet:139402|http://identifiers.org/mesh/D063926|http://identifiers.org/snomedct/702809001	ordo_disease
SO:1000030	biolink:SequenceFeature	chromosomal_inversion	An interchromosomal mutation where a region of the chromosome is inverted with respect to wild type.		mondo.json	(bacteria)IN|chromosomal inversion|(Drosophila)In|(fungi)In	http://purl.obolibrary.org/obo/SO_1000030		
HGNC:30611	biolink:NamedThing	STT3B			mondo.json		http://identifiers.org/hgnc/30611		
HGNC:17655	biolink:NamedThing	GREM2			mondo.json		http://identifiers.org/hgnc/17655		
MONDO:0015344	biolink:Disease	idiopathic acute transverse myelitis	Idiopathic acute transverse myelitis (ATM) is an immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement.	Orphanet:139423	mondo.json	ATM/TM	http://purl.obolibrary.org/obo/MONDO_0015344	Orphanet:139423	ordo_clinical_subtype
MONDO:0015343	biolink:Disease	secondary acute transverse myelitis	Secondary acute transverse myelitis (ATM) is characterized by focal inflammation within the spinal cord due to a known cause, usually an inflammatory disease.	Orphanet:139420|UMLS:CN199396	mondo.json	disease-associated transverse myelitis	http://purl.obolibrary.org/obo/MONDO_0015343	UMLS:CN199396|Orphanet:139420	ordo_clinical_subtype
MONDO:0015342	biolink:Disease	acute transverse myelitis	Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM).	ICD9:341.20|UMLS:C0270627|ICD9:323.9|MESH:D009188|SCTID:47000000|Orphanet:139417|NCIT:C128378	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015342	Orphanet:139417|http://identifiers.org/snomedct/47000000|http://identifiers.org/mesh/D009188|UMLS:C0270627|NCIT:C128378	ordo_disease
HGNC:17652	biolink:NamedThing	PORCN			mondo.json		http://identifiers.org/hgnc/17652		
MONDO:0015341	biolink:Disease	congenital panfollicular nevus	Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed.	Orphanet:139414|HP:0025471	mondo.json	congenital panfollicular nevus|congenital panfollicular nevus (disease)	http://purl.obolibrary.org/obo/MONDO_0015341	Orphanet:139414	ordo_disease
MONDO:0030967	biolink:Disease	deafness, congenital, and adult-onset progressive leukoencephalopathy		OMIM:619196	mondo.json	DEAPLE	http://purl.obolibrary.org/obo/MONDO_0030967	https://omim.org/entry/619196	
MONDO:0030966	biolink:Disease	neurofacioskeletal syndrome with or without renal agenesis		OMIM:619194	mondo.json	NFSRA|Neurodevelopmental Disorder With Corpus Callosum Agenesis, Craniofacial Dysmorphism, and Skeletal Anomalies, With or Without Renal Agenesis	http://purl.obolibrary.org/obo/MONDO_0030966	https://omim.org/entry/619194	
MONDO:0030963	biolink:Disease	Li-Campeau syndrome		OMIM:619189	mondo.json	LICAS	http://purl.obolibrary.org/obo/MONDO_0030963	https://omim.org/entry/619189	
NCBITaxon:10335	biolink:OrganismalEntity	Human alphaherpesvirus 3		GC_ID:1	mondo.json	VZV|varicella zoster virus VZV|Varicella-zoster virus|Human herpesvirus 3|Varicella Zoster Virus|varicella-zoster virus VZV|HHV-3|Human herpes virus 3	http://purl.obolibrary.org/obo/NCBITaxon_10335		
MONDO:0030962	biolink:Disease	nephrotic syndrome, type 23		OMIM:619201	mondo.json	nephrotic syndrome, type 23|NPHS23	http://purl.obolibrary.org/obo/MONDO_0030962	https://omim.org/entry/619201	
MONDO:0030965	biolink:Disease	obsolete olmsted syndrome 2			mondo.json		http://purl.obolibrary.org/obo/MONDO_0030965		
HGNC:29605	biolink:NamedThing	SH2B3			mondo.json		http://identifiers.org/hgnc/29605		
CHR:9606-chr1q21.1	biolink:NamedThing	1q21.1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr1q21.1		
GO:0034255	biolink:NamedThing	regulation of urea metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving urea.		mondo.json	regulation of urea metabolism	http://purl.obolibrary.org/obo/GO_0034255		
MONDO:0030971	biolink:Disease	immunodeficiency 78 with autoimmunity and developmental delay		OMIM:619220	mondo.json	immunodeficiency 78 with autoimmunity and developmental delay|TPP2 deficiency|IMD78	http://purl.obolibrary.org/obo/MONDO_0030971	https://omim.org/entry/619220	
GO:0034250	biolink:NamedThing	positive regulation of cellular amide metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amides.		mondo.json	positive regulation of amide metabolism	http://purl.obolibrary.org/obo/GO_0034250		
MONDO:0030978	biolink:Disease	endove syndrome, limb-only type		OMIM:619217	mondo.json	ENDOVESL|Mesomelia of Lower Extremities With Hand and Foot Anomalies	http://purl.obolibrary.org/obo/MONDO_0030978	https://omim.org/entry/619217	
MONDO:0030977	biolink:Disease	neuropathy, hereditary motor, with myopathic features		OMIM:619216	mondo.json	HMNMYO	http://purl.obolibrary.org/obo/MONDO_0030977	https://omim.org/entry/619216	
MONDO:0030979	biolink:Disease	endove syndrome, limb-brain type		OMIM:619218	mondo.json	Mesomelia of Lower Extremities With Hand, Foot, and Brain Anomalies|ENDOVESLB	http://purl.obolibrary.org/obo/MONDO_0030979	https://omim.org/entry/619218	
MONDO:0030974	biolink:Disease	mitochondrial complex 2 deficiency, nuclear type 4		OMIM:619224	mondo.json	mitochondrial complex II deficiency, nuclear type 4|MC2DN4|mitochondrial complex 2 deficiency, nuclear type 4	http://purl.obolibrary.org/obo/MONDO_0030974	https://omim.org/entry/619224	
MONDO:0030973	biolink:Disease	immunodeficiency 77		OMIM:619223	mondo.json	IMD77|immunodeficiency 77	http://purl.obolibrary.org/obo/MONDO_0030973	https://omim.org/entry/619223	
MONDO:0030976	biolink:Disease	oculomotor-abducens synkinesis		OMIM:619215	mondo.json	OCABSN	http://purl.obolibrary.org/obo/MONDO_0030976	https://omim.org/entry/619215	
UBERON:0036186	biolink:AnatomicalEntity	fibroelastic connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036186		
MONDO:0042960	biolink:Disease	Sackey-Sakati-Aur syndrome		GARD:0000315|MESH:C537219|UMLS:C2931442	mondo.json	multiple dysmorphic features and pancytopenia|Aur syndrome|pancytopenia multiple congenital anomalies|Sackey Sakati Aur syndrome	http://purl.obolibrary.org/obo/MONDO_0042960	http://identifiers.org/mesh/C537219|UMLS:C2931442	gard_rare
MONDO:0042961	biolink:Disease	sacral hemangiomas multiple congenital abnormalities		GARD:0000317|UMLS:C2931443|MESH:C537222	mondo.json		http://purl.obolibrary.org/obo/MONDO_0042961	http://identifiers.org/mesh/C537222|UMLS:C2931443	gard_rare
MONDO:0042962	biolink:Disease	Slti-Salem syndrome		UMLS:C2931284|GARD:0000324|MEDGEN:419036|MESH:C536673	mondo.json	hypogonadism and frontoparietal alopecia|hypogonadotropic hypogonadism alopecia|Slti Salem syndrome	http://purl.obolibrary.org/obo/MONDO_0042962	http://identifiers.org/mesh/C536673|UMLS:C2931284	gard_rare
MONDO:0042956	biolink:Disease	Saal-Bulas syndrome		UMLS:C2931439|MESH:C537193|GARD:0000311	mondo.json	Saal Bulas syndrome|ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum	http://purl.obolibrary.org/obo/MONDO_0042956	UMLS:C2931439|http://identifiers.org/mesh/C537193	gard_rare
GO:0034246	biolink:NamedThing	mitochondrial transcription factor activity	Interacting with the mitochondrial promoter DNA to modulate transcription by the mitochondrial RNA polymerase.		mondo.json	mitochondrial sequence-specific DNA binding transcription factor activity|mitochondrial RNA polymerase core promoter sequence-specific DNA binding transcription factor activity|mitochondrial RNA polymerase promoter specificity activity|mitochondrial DNA-binding transcription factor activity|transcription factor activity, mitochondrial proximal promoter sequence-specific binding|mitochondrial RNA polymerase transcription factor activity, sequence-specific DNA binding|mitochondrial sequence-specific DNA-binding transcription factor activity|mitochondrial transcription initiation factor activity|mitochondrial RNA polymerase core promoter proximal region sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding mitochondrial RNA polymerase transcription factor activity|mitochondrial polymerase transcription factor activity|transcription factor activity, mitochondrial RNA polymerase core promoter proximal region sequence-specific binding|mitochondrial RNA polymerase binding promoter specificity activity|transcription factor activity, mitochondrial RNA polymerase core promoter sequence-specific DNA binding	http://purl.obolibrary.org/obo/GO_0034246		
GO:0034248	biolink:NamedThing	regulation of cellular amide metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amides.		mondo.json	regulation of amide metabolism	http://purl.obolibrary.org/obo/GO_0034248		
GO:0034249	biolink:NamedThing	negative regulation of cellular amide metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amides.		mondo.json	negative regulation of amide metabolism	http://purl.obolibrary.org/obo/GO_0034249		
MONDO:0030981	biolink:Disease	immunodeficiency 79		OMIM:619238|GARD:0009523	mondo.json	IMD79|immunodeficiency 79|CD4 Deficiency	http://purl.obolibrary.org/obo/MONDO_0030981	https://omim.org/entry/619238	gard_rare
MONDO:0030982	biolink:Disease	sulfide quinone oxidoreductase deficiency		OMIM:619221	mondo.json	sulfide:quinone oxidoreductase deficiency|SQORD	http://purl.obolibrary.org/obo/MONDO_0030982	https://omim.org/entry/619221	
MONDO:0030989	biolink:Disease	spermatogenic failure 53		OMIM:619258	mondo.json	spermatogenic failure 53|SPGF53	http://purl.obolibrary.org/obo/MONDO_0030989	https://omim.org/entry/619258	
MONDO:0030988	biolink:Disease	developmental delay with dysmorphic facies and dental anomalies		OMIM:619228	mondo.json	DEFDA	http://purl.obolibrary.org/obo/MONDO_0030988	https://omim.org/entry/619228	
NCBITaxon:10310	biolink:OrganismalEntity	Human alphaherpesvirus 2		GC_ID:1	mondo.json	Herpes simplex virus (type 2)|herpes simplex virus type 2 HSV-2|Herpes simplex virus 2|Herpes simplex virus II|Human herpesvirus 2|Herpes simplex virus type 2 (HSV-2)|Herpes simplex virus type 2|HSV2	http://purl.obolibrary.org/obo/NCBITaxon_10310		
MONDO:0015391	biolink:Disease	nasopharyngeal teratoma	A teratoma that involves the nasopharynx.	UMLS:C4531264|ICD10CM:D10.6|Orphanet:141107	mondo.json	teratoma of the nasopharynx|nasopharynx teratoma	http://purl.obolibrary.org/obo/MONDO_0015391	UMLS:C4531264|Orphanet:141107	ordo_clinical_subtype
MONDO:0030985	biolink:Disease	premature ovarian failure 19		OMIM:619245	mondo.json	POF19|premature ovarian failure 19	http://purl.obolibrary.org/obo/MONDO_0030985	https://omim.org/entry/619245	
MONDO:0015390	biolink:Disease	proboscis lateralis	Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly.	SCTID:715828006|Orphanet:141099|UMLS:C4274985	mondo.json	congenital tubular nose	http://purl.obolibrary.org/obo/MONDO_0015390	UMLS:C4274985|http://identifiers.org/snomedct/715828006|Orphanet:141099	ordo_malformation_syndrome
MONDO:0030987	biolink:Disease	vertebral, cardiac, tracheoesophageal, renal, and limb defects		OMIM:619227	mondo.json	VCTERL|VCTERL syndrome	http://purl.obolibrary.org/obo/MONDO_0030987	https://omim.org/entry/619227	
MONDO:0030986	biolink:Disease	blistering, acantholytic, of oral and laryngeal mucosa		OMIM:619226	mondo.json	ABOLM	http://purl.obolibrary.org/obo/MONDO_0030986	https://omim.org/entry/619226	
MONDO:0042970	biolink:Disease	disorder of glutamate decarboxylase	A disease that has its basis in the disruption of glutamate decarboxylase activity.	GARD:0002505|UMLS:C1291560|ICD9:277.6|MEDGEN:452941|GTR:AN0168165|GTR:AN0264281|SCTID:124596009	mondo.json	glutamate decarboxylase deficiency|glutamate decarboxylase activity disease|deficiency of glutamate decarboxylase|disorder of glutamate decarboxylase activity	http://purl.obolibrary.org/obo/MONDO_0042970	http://identifiers.org/snomedct/124596009|UMLS:C1291560	gard_rare
MONDO:0042971	biolink:Disease	congenital herpes virus infection	An infectious embryofetopathy caused by infection with Herpesviridae.	SCTID:715337002|UMLS:C4275250|GARD:0002669|GARD:0002670	mondo.json	congenital herpes virus infection|congenital infection caused by herpes virus|Herpesviridae infectious embryofetopathy|Herpesviridae caused infectious embryofetopathy	http://purl.obolibrary.org/obo/MONDO_0042971	UMLS:C4275250|http://identifiers.org/snomedct/715337002	gard_rare
MONDO:0042972	biolink:Disease	meningococcemia		UMLS:C0025306|SCTID:4089001|ICD9:036.2|GARD:0003472|MEDGEN:6300	mondo.json	meningococcal septicemia|meningococcemia	http://purl.obolibrary.org/obo/MONDO_0042972	http://identifiers.org/snomedct/4089001|UMLS:C0025306	gard_rare
MONDO:0042973	biolink:Disease	familial osteosclerosis	An instance of osteosclerosis that is caused by an inherited modification of the individual's genome.	GARD:0004174	mondo.json	hereditary osteosclerosis	http://purl.obolibrary.org/obo/MONDO_0042973		gard_rare
NCBITaxon:10319	biolink:OrganismalEntity	Varicellovirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_10319		
MONDO:0042967	biolink:Disease	rheumatic disease of mitral valve	A rheumatologic disorder that involves the mitral valve.	UMLS:C0264765|SCTID:83898004	mondo.json	rheumatic mitral valve disease|rheumatologic disorder of mitral valve|mitral valve rheumatologic disorder|rheumatic mitral valve changes|rheumatic disease of mitral valve	http://purl.obolibrary.org/obo/MONDO_0042967	UMLS:C0264765|http://identifiers.org/snomedct/83898004	
MONDO:0042968	biolink:Disease	partial duplication of chromosome 12			mondo.json		http://purl.obolibrary.org/obo/MONDO_0042968		
MONDO:0042969	biolink:Disease	partial duplication of the long arm of chromosome 12	Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 12q duplication include developmental delay, intellectual disability, behavioral problems, growth delay, and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	MESH:C538300|GARD:0001926|UMLS:C0795846	mondo.json	chromosome 12q duplication|partial trisomy 12q|12q trisomy|trisomy 12q|Duplication 12q|12q duplication	http://purl.obolibrary.org/obo/MONDO_0042969	http://identifiers.org/mesh/C538300|UMLS:C0795846	gard_rare
MONDO:0042963	biolink:Disease	wandering spleen	A condition characterized by an abnormal spleen position due to loss, weakness, or malformation of one or more of the ligaments that hold the spleen in its normal position in the left upper abdomen. It may present as a birth defect or follow injuries or pregnancy. Signs and symptoms include abdominal discomfort and splenomegaly.	NCIT:C85224|GARD:0000328|MESH:D050805|MEDGEN:75782|SCTID:191384005|UMLS:C0272414	mondo.json	splenic Ptoses|displaced spleen|spleens, displaced|spleen, wandering|spleens, drifting|splenic ptosis|displaced spleens|spleens, floating|spleens, wandering|drifting spleens|Splenoptoses|ptosis, splenic|spleen, drifting|floating spleens|wandering spleen|wandering spleens|floating spleen|spleen, floating|splenoptosis|Ptoses, splenic|spleen, displaced|drifting spleen	http://purl.obolibrary.org/obo/MONDO_0042963	http://identifiers.org/mesh/D050805|UMLS:C0272414|http://identifiers.org/snomedct/191384005|NCIT:C85224	
MONDO:0042964	biolink:Disease	Machado-Joseph disease type 4	A subtype of Machado-Joseph disease characterized by Parkinsonian symptoms that respond particularly well to levodopa treatment.	SCTID:91956006|ICD9:334.3|UMLS:C0686352	mondo.json	azorean disease, type iv	http://purl.obolibrary.org/obo/MONDO_0042964	http://identifiers.org/snomedct/91956006|UMLS:C0686352	
MONDO:0042965	biolink:Disease	Machado-Joseph disease type 5	A subtype of Machado-Joseph disease characterized by resemblance to Hereditary Spastic Paraplegia; however, more research is needed to conclude the relationship between Type V MJD and hereditary spastic paraplegia.	ICD9:334.3	mondo.json	azorean disease, type V	http://purl.obolibrary.org/obo/MONDO_0042965		
MONDO:0042966	biolink:Disease	inherited mitral valve disease	An instance of mitral valve disease that is caused by an inherited modification of the individual's genome.	SCTID:75372006	mondo.json	hereditary mitral valve disease|congenital anomaly of mitral valve|congenital mitral valve abnormality|congenital malformation of mitral valve	http://purl.obolibrary.org/obo/MONDO_0042966	http://identifiers.org/snomedct/75372006	
MONDO:0015395	biolink:Disease	congenital subglottic stenosis		ICD10CM:Q31.1|SCTID:204552001|Orphanet:141121|ICD9:748.3	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015395	http://purl.bioontology.org/ontology/ICD10CM/Q31.1|http://identifiers.org/snomedct/204552001|Orphanet:141121	ordo_malformation_syndrome
MONDO:0030992	biolink:Disease	short stature, oligodontia, dysmorphic facies, and motor delay		OMIM:619234	mondo.json	SOFM	http://purl.obolibrary.org/obo/MONDO_0030992	https://omim.org/entry/619234	
MONDO:0015394	biolink:Disease	nasal encephalocele	Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases.	SCTID:65455002|Orphanet:141118	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015394	http://identifiers.org/snomedct/65455002|Orphanet:141118	ordo_clinical_subtype
MONDO:0030991	biolink:Disease	bile acid conjugation defect 1		OMIM:619232	mondo.json	BACD1	http://purl.obolibrary.org/obo/MONDO_0030991	https://omim.org/entry/619232	
MONDO:0030994	biolink:Disease	neurodevelopmental disorder with or without autism or seizures		OMIM:619239	mondo.json	neurodevelopmental disorder with or without autism or seizures|NEDAUS	http://purl.obolibrary.org/obo/MONDO_0030994	https://omim.org/entry/619239	
MONDO:0015393	biolink:Disease	nasal ganglioglioma	Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction.	Orphanet:141115	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015393	Orphanet:141115	ordo_clinical_subtype
MONDO:0015392	biolink:Disease	nasal glial heterotopia	Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported.	Orphanet:141112|UMLS:C0266490|ICD9:748.1|SCTID:5645008	mondo.json	nasal glioma	http://purl.obolibrary.org/obo/MONDO_0015392	UMLS:C0266490|http://identifiers.org/snomedct/5645008|Orphanet:141112	ordo_disease
MONDO:0015399	biolink:Disease	glossopalatine ankylosis	Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge.	SCTID:717814004|UMLS:CN199497|Orphanet:141163|UMLS:C4303569	mondo.json	Cosack syndrome	http://purl.obolibrary.org/obo/MONDO_0015399	Orphanet:141163|UMLS:C4303569|UMLS:CN199497|http://identifiers.org/snomedct/717814004	ordo_malformation_syndrome
MONDO:0015398	biolink:Disease	hemifacial microsomia		GARD:0006582|SCTID:109393007|Orphanet:141136|UMLS:CN199493	mondo.json	first branchial arch syndrome|otomandibular syndrome|otomandibular dysostosis|Laterofacial microsomia	http://purl.obolibrary.org/obo/MONDO_0015398	Orphanet:141136|UMLS:CN199493|http://identifiers.org/snomedct/109393007	ordo_malformation_syndrome
MONDO:0015397	biolink:Disease	oculo-auriculo-vertebral spectrum		GARD:0006540|ICD9:759.89|OMIM:164210|SCTID:109393007|Orphanet:374|Orphanet:141132|SCTID:367462009|DOID:2907|NCIT:C84740|MESH:D006053|GARD:0012074|UMLS:C0265240	mondo.json	OAV (oculoauriculovertebral) dysplasia|OAVS|facioauriculovertebral sequence|Expanded spectrum of hemifacial microsomia|OAVD|OAV dysplasia|Goldenhar disease|facio-auriculo-vertebral spectrum|oculo-auriculo-vertebral dysplasia|Expanded spectrum hemifacial microsomia|oculoauriculovertebral syndrome|first arch syndrome|HFM|first and second branchial arch syndrome|oculoauriculovertebral spectrum|craniofacial microsomia|OAV spectrum|facioauriculovertebral dysplasia|Fav sequence|unilateral or bilateral and asymmetric otomandibular dysplasia|hemifacial microsomia|Goldenhar syndrome|oculoauriculovertebral dysplasia	http://purl.obolibrary.org/obo/MONDO_0015397	http://identifiers.org/snomedct/367462009|NCIT:C84740|Orphanet:141132|https://omim.org/entry/164210|UMLS:C0265240|http://identifiers.org/mesh/D006053|DOID:2907	ordo_malformation_syndrome|disease_grouping|ordo_group_of_disorders|gard_rare
MONDO:0030990	biolink:Disease	Kohlschutter-Tonz syndrome-like		OMIM:619229	mondo.json	KTZSL	http://purl.obolibrary.org/obo/MONDO_0030990	https://omim.org/entry/619229	
MONDO:0015396	biolink:Disease	congenital laryngeal cyst	Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia.	Orphanet:141124|UMLS:C0339880|SCTID:765763007	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015396	Orphanet:141124|http://identifiers.org/snomedct/765763007|UMLS:C0339880	ordo_malformation_syndrome
MONDO:0030999	biolink:Disease	neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism		OMIM:619244	mondo.json	NEDCAFD	http://purl.obolibrary.org/obo/MONDO_0030999	https://omim.org/entry/619244	
GO:0071295	biolink:NamedThing	cellular response to vitamin	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0071295		
MONDO:0030996	biolink:Disease	bleeding disorder, platelet-type, 24		OMIM:619271	mondo.json	Glanzmann Thrombasthenia-Like With Macrothrombocytopenia 2|BDPLT24|bleeding disorder, platelet-type, 24, autosomal dominant|bleeding disorder, platelet-type, 24	http://purl.obolibrary.org/obo/MONDO_0030996	https://omim.org/entry/619271	
MONDO:0015380	biolink:Disease	facial dermoid cyst	Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area.	SCTID:763220008|Orphanet:141051	mondo.json	dermoid cyst of the face	http://purl.obolibrary.org/obo/MONDO_0015380	http://identifiers.org/snomedct/763220008|Orphanet:141051	ordo_morphological_anomaly
MONDO:0030995	biolink:Disease	global developmental delay with speech and behavioral abnormalities		OMIM:619243	mondo.json	GDSBA	http://purl.obolibrary.org/obo/MONDO_0030995	https://omim.org/entry/619243	
MONDO:0030998	biolink:Disease	hearing loss, autosomal dominant 80		OMIM:619274	mondo.json	DFNA80|deafness, autosomal dominant 80	http://purl.obolibrary.org/obo/MONDO_0030998	https://omim.org/entry/619274	
MONDO:0030997	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 37		OMIM:619272	mondo.json	mitochondrial complex I deficiency, nuclear type 37|MC1DN37|mitochondrial complex 1 deficiency, nuclear type 37	http://purl.obolibrary.org/obo/MONDO_0030997	https://omim.org/entry/619272	
MONDO:0042981	biolink:Disease	aortic valve stenosis	Aortic valve stenosis (AVS) is a condition characterized by narrowing of the heart's aortic valve opening. This narrowing prevents the valve from opening fully, which obstructs blood flow from the heart into the aorta, and onward to the rest of the body. AVS can range from mild to severe. Signs and symptoms typically develop when the narrowing of the opening is severe and may include chest pain (angina) or tightness; shortness of breath or fatigue (especially during exertion); feeling faint or fainting; heart palpitations; and heart murmur. Individuals with less severe congenital AVS (present at birth) may not develop symptoms until adulthood. Individuals with severe cases may faint without warning. AVS can have several causes including abnormal development before birth (such as having 1 or 2 valve leaflets instead of 3); calcium build-up on the valve in adulthood; and rheumatic fever.	SCTID:60573004|EFO:0000266|SCTID:72011007|ICD9:746.3|ICD9:395.0|UMLS:C0155567|GARD:0005830|DOID:1712|ICD10CM:I06.0|MESH:D001024|SCTID:18546004|HP:0001650	mondo.json	rheumatic aortic valve stenosis|rheumatic aortic stenosis|aortic stenosis|stenosed aortic valve|AS|valvular aortic stenosis	http://purl.obolibrary.org/obo/MONDO_0042981	http://identifiers.org/snomedct/60573004|DOID:1712|http://identifiers.org/mesh/D001024	gard_rare
MONDO:0042982	biolink:Disease	GATA2 deficiency with susceptibility to MDS/AML	A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML]).	GARD:0013373|NCIT:C126349	mondo.json	GATA2 deficiency/MonoMac syndrome|GATA2 deficiency|GATA2 deficiency with susceptibility to MDS/AML	http://purl.obolibrary.org/obo/MONDO_0042982	NCIT:C126349	predisposition|gard_rare
MONDO:0042983	biolink:Disease	neurocutaneous syndrome	A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.	NCIT:C84348|SCTID:78572006|UMLS:C0265316|MESH:D020752	mondo.json	neurocutaneous disorder|syndromes, neurocutaneous|neuroectodermal dysplasia syndrome|neuroectodermal dysplasia syndromes|syndrome, neurocutaneous|phakomatosis|neurocutaneous disorders|Phacomatoses|syndrome, neuroectodermal dysplasia|neuroectodermal dysplasia|syndromes, neuroectodermal dysplasia|Phacomatosis|neurocutaneous syndrome|Phakomatoses	http://purl.obolibrary.org/obo/MONDO_0042983	UMLS:C0265316|http://identifiers.org/snomedct/78572006|NCIT:C84348|http://identifiers.org/mesh/D020752	
GO:0009295	biolink:NamedThing	nucleoid	The region of a virus, bacterial cell, mitochondrion or chloroplast to which the nucleic acid is confined.		mondo.json		http://purl.obolibrary.org/obo/GO_0009295		
MONDO:0042980	biolink:Disease	Westphal disease		UMLS:C1279186|SCTID:182747006|GTR:AN0099345|GTR:AN0099344|GARD:0005557|GTR:AN0099343|OMIM:143100|MEDGEN:224821|MESH:C536694	mondo.json	Westphal variant of Huntington's disease|HD- Westphal variant|Westphal disease	http://purl.obolibrary.org/obo/MONDO_0042980	UMLS:C1279186|http://identifiers.org/mesh/C536694|http://identifiers.org/snomedct/182747006	gard_rare
GO:0034220	biolink:NamedThing	ion transmembrane transport	A process in which an ion is transported across a membrane.		mondo.json	ATP hydrolysis coupled ion transmembrane transport|ion membrane transport|transmembrane ion transport	http://purl.obolibrary.org/obo/GO_0034220		
MONDO:0042978	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0042978		
MONDO:0042979	biolink:Disease	hypokalemic periodic paralysis, type 1		UMLS:C3714580|OMIM:170400	mondo.json	HOKPP1|hypokalemic periodic paralysis, type 1	http://purl.obolibrary.org/obo/MONDO_0042979	https://omim.org/entry/170400|UMLS:C3714580	
MONDO:0015389	biolink:Disease	supernumerary nostril	Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face.	HP:0009934|SCTID:719163006|Orphanet:141096|UMLS:CN226671	mondo.json	accessory nostril|supernumerary naris	http://purl.obolibrary.org/obo/MONDO_0015389	http://identifiers.org/snomedct/719163006|Orphanet:141096|UMLS:CN226671	ordo_malformation_syndrome
HGNC:17619	biolink:NamedThing	NDE1			mondo.json		http://identifiers.org/hgnc/17619		
MONDO:0042974	biolink:Disease	parainfluenza virus type 3 infectious disease	Parainfluenza virus type 3 is one of a group of common viruses known as human parainfluenza viruses (HPIV) that cause a variety of respiratory illnesses. Symptoms usually develop between 2 and 7 days from the time of exposure and typically resolve in 7-10 days. Symptoms may include fever, runny nose, and cough. HPIV-3 can also cause bronchiolitis, bronchitis, and pneumonia. Infants and young children are particularly susceptible to HPIV-3 infections, though older adults and those with a weakened immune system are also at risk for complications. HPIVs are usually spread from an infected person to others through coughing, sneezing, and/or touching. There is currently no vaccine to protect against parainfluenza virus infections. Most HPIV infections resolve on their own and do not require special treatment, though medical intervention may be necessary for severe breathing problems. Most adults have antibodies against parainfluenza but can get repeat infections.	UMLS:C0276324|GARD:0004215|OMOP:4147524|SCTID:30270006|ICD9:079.89	mondo.json	infection due to parainfluenza virus 3|human respirovirus 3 caused disease or disorder|human respirovirus 3 disease or disorder|human parainfluenza virus type 3|infection caused by parainfluenza virus 3|PIV3|infection caused by human parainfluenza virus 3|infection due to human parainfluenza virus 3|human respirovirus 3 infectious disease	http://purl.obolibrary.org/obo/MONDO_0042974	http://identifiers.org/snomedct/30270006|UMLS:C0276324	gard_rare
MONDO:0042975	biolink:Disease	pseudoachondroplastic dysplasia 2		MEDGEN:418965|OMIM:264150|MESH:C535820|GARD:0004542|UMLS:C2931030	mondo.json	spondyloepiphyseal dysplasia pseudoachondroplastic 2|recessive pseudoachondroplasia|pseudoachondroplastic dysplasia 2	http://purl.obolibrary.org/obo/MONDO_0042975	http://identifiers.org/mesh/C535820|UMLS:C2931030	gard_rare
MONDO:0042976	biolink:Disease	vitamin B deficiency	A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat.	UMLS:C0042850|NCIT:C35129|SCTID:47903000|MESH:D014804	mondo.json	deficiencies, vitamin B|deficiency, vitamin B|vitamin B deficiencies	http://purl.obolibrary.org/obo/MONDO_0042976	NCIT:C35129|http://identifiers.org/snomedct/47903000|http://identifiers.org/mesh/D014804|UMLS:C0042850	
HGNC:17616	biolink:NamedThing	IL17RD			mondo.json		http://identifiers.org/hgnc/17616		
MONDO:0042977	biolink:Disease	trichoepithelioma, multiple familial, 1		GARD:0005262|OMIM:601606	mondo.json	multiple familial trichoepithelioma 1|trichoepithelioma multiple familial 1|Brooke-Fordyce Trichoepitheliomas|epithelioma adenoides cysticum of Brooke|epithelioma, hereditary multiple benign cystic|trichoepithelioma, multiple familial, 1|MFT1	http://purl.obolibrary.org/obo/MONDO_0042977	https://omim.org/entry/601606	gard_rare
MONDO:0015384	biolink:Disease	digestive duplication cyst of the tongue	Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus.	Orphanet:141071	mondo.json	gastric duplication cyst of the tongue|enteric duplication cyst of the tongue|foregut duplication cyst of the tongue|cysts and fistulae of the face and oral cavity of tongue|tongue cysts and fistulae of the face and oral cavity	http://purl.obolibrary.org/obo/MONDO_0015384	Orphanet:141071	ordo_morphological_anomaly
MONDO:0015383	biolink:Disease	cervicofacial fibrochondroma		Orphanet:141067	mondo.json	cervicofacial enchondroma	http://purl.obolibrary.org/obo/MONDO_0015383	Orphanet:141067	ordo_morphological_anomaly
MONDO:0015382	biolink:Disease	lower lip fistula	A cysts and fistulae of the face and oral cavity that involves the lower lip.	Orphanet:141064	mondo.json	lower lip cysts and fistulae of the face and oral cavity|cysts and fistulae of the face and oral cavity of lower lip	http://purl.obolibrary.org/obo/MONDO_0015382	Orphanet:141064	ordo_morphological_anomaly
MONDO:0015381	biolink:Disease	commissural lip fistula	A cysts and fistulae of the face and oral cavity that involves the labial commissure.	Orphanet:141061	mondo.json	cysts and fistulae of the face and oral cavity of labial commissure|labial commissure cysts and fistulae of the face and oral cavity	http://purl.obolibrary.org/obo/MONDO_0015381	Orphanet:141061	ordo_morphological_anomaly
MONDO:0015388	biolink:Disease	polyrrhinia	Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair.	SCTID:716279002|Orphanet:141091	mondo.json	Double nose|Polyrhinia	http://purl.obolibrary.org/obo/MONDO_0015388	Orphanet:141091|http://identifiers.org/snomedct/716279002	ordo_malformation_syndrome
MONDO:0015387	biolink:Disease	nasolacrimal duct cyst	Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females.	Orphanet:141083	mondo.json	dacryocystocele|dacryocele|nasolacrimal mucocele	http://purl.obolibrary.org/obo/MONDO_0015387	Orphanet:141083	ordo_morphological_anomaly
MONDO:0015386	biolink:Disease	epignathus	Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period.	HP:0030767|SCTID:31248004|Orphanet:141077|UMLS:C0266725	mondo.json	Epignathus|epignathus (disease)|oropharyngeal teratoma	http://purl.obolibrary.org/obo/MONDO_0015386	Orphanet:141077|http://identifiers.org/snomedct/31248004|UMLS:C0266725	ordo_clinical_subtype
MONDO:0015385	biolink:Disease	external auditory canal aplasia/hypoplasia		Orphanet:141074	mondo.json	external auditory canal stenosis/atresia	http://purl.obolibrary.org/obo/MONDO_0015385	Orphanet:141074	ordo_morphological_anomaly
MONDO:0003304	biolink:Disease	plexiform neurofibroma	An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)	UMLS:C0206728|EFO:0000658|DOID:5151|HP:0009732|SCTID:403818001|ICDO:9550/0|NCIT:C3797|MESH:D018318|ICD9:215.9	mondo.json	plexiform neurofibroma|plexiform neurofibroma (disease)	http://purl.obolibrary.org/obo/MONDO_0003304	http://identifiers.org/snomedct/403818001|NCIT:C3797|DOID:5151|UMLS:C0206728|http://identifiers.org/mesh/D018318	
MONDO:0005967	biolink:Disease	splenic tuberculosis	Infection of the spleen with species of mycobacterium.	DOID:9305|EFO:0007492|ICD9:017.7|SCTID:28399005|MESH:D014400|UMLS:C0041331	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005967	http://identifiers.org/mesh/D014400|http://identifiers.org/snomedct/28399005|UMLS:C0041331|DOID:9305	
NCBITaxon:10374	biolink:OrganismalEntity	Gammaherpesvirinae		GC_ID:1	mondo.json	Gammaherpesviruses|lymphoproliferative virus group	http://purl.obolibrary.org/obo/NCBITaxon_10374		
MONDO:0030923	biolink:Disease	frontotemporal dementia and/or amyotrophic lateral sclerosis		OMIMPS:105500	mondo.json		http://purl.obolibrary.org/obo/MONDO_0030923	https://omim.org/phenotypicSeries/PS105500	
MONDO:0005966	biolink:Disease	spleen cancer	A malignant neoplasm involving the spleen	SCTID:127230005|NCIT:C3539|EFO:0007491|NCIT:C3383|DOID:672|MESH:D013160|ICD10CM:C26.1	mondo.json	cancer of the spleen|malignant splenic tumor|malignant tumor of spleen|malignant splenic neoplasm|malignant tumor of the spleen|malignant neoplasm of spleen|spleen neoplasm|cancer of spleen|malignant spleen neoplasm|malignant neoplasm of the spleen|splenic cancer|splenic neoplasm|malignant tumour of spleen|spleen cancer	http://purl.obolibrary.org/obo/MONDO_0005966	NCIT:C3539|http://identifiers.org/mesh/D013160|http://identifiers.org/snomedct/127230005|http://purl.bioontology.org/ontology/ICD10CM/C26.1|DOID:672	
MONDO:0030922	biolink:Disease	intellectual disability, autosomal dominant 56		Orphanet:442835|OMIM:617854|UMLS:CN787270|DOID:0080226	mondo.json	intellectual disability, autosomal dominant 56|MRD56|autosomal dominant mental retardation 56|mental retardation, autosomal dominant 56|autosomal dominant intellectual disability 56	http://purl.obolibrary.org/obo/MONDO_0030922	DOID:0080226|https://omim.org/entry/617854|UMLS:CN787270	
MONDO:0003305	biolink:Disease	cellular neurofibroma	A neurofibroma characterized by the presence of areas with increased cellularity.	DOID:5152|UMLS:C1516371|NCIT:C41427	mondo.json	cellular neurofibroma	http://purl.obolibrary.org/obo/MONDO_0003305	UMLS:C1516371|NCIT:C41427|DOID:5152	
NCBITaxon:10375	biolink:OrganismalEntity	Lymphocryptovirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_10375		
MONDO:0005969	biolink:Disease	st. Louis encephalitis	A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750)	ICD9:062.3|MESH:D004674|EFO:0007495|MedDRA:10041896|DOID:10845|Orphanet:83484|UMLS:C0014060|SCTID:417607009|ICD10CM:A83.3	mondo.json	Saint Louis encephalitis|Neuroinvasive St. Louis encephalitis virus infection|St. Louis encephalitis virus infectious encephalitis|St. Louis encephalitis virus caused infectious encephalitis	http://purl.obolibrary.org/obo/MONDO_0005969	http://purl.bioontology.org/ontology/ICD10CM/A83.3|http://identifiers.org/mesh/D004674|DOID:10845|UMLS:C0014060|http://identifiers.org/snomedct/417607009|Orphanet:83484	ordo_disease
NCBITaxon:10376	biolink:OrganismalEntity	Human gammaherpesvirus 4		GC_ID:1	mondo.json	EPV|Epstein-Barr virus|Human herpesvirus type 4|Human herpesvirus 4|Epstein-Barr virus EBV|Epstein Barr virus|HHV-4	http://purl.obolibrary.org/obo/NCBITaxon_10376		
MONDO:0003306	biolink:Disease	atypical neurofibroma	A neurofibroma characterized by the presence of cellular pleomorphism.	UMLS:C1510961|NCIT:C41426|DOID:5153	mondo.json	atypical neurofibroma	http://purl.obolibrary.org/obo/MONDO_0003306	UMLS:C1510961|NCIT:C41426|DOID:5153	
MONDO:0030925	biolink:Disease	oocyte maturation defect 10		OMIM:619176	mondo.json	OOMD10|oocyte maturation defect 10	http://purl.obolibrary.org/obo/MONDO_0030925	https://omim.org/entry/619176	
GO:0048863	biolink:NamedThing	stem cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0048863		
MONDO:0005968	biolink:Disease	sporotrichosis	The commonest and least serious of the deep mycoses, characterized by nodular lesions of the cutaneous and subcutaneous tissues. It is caused by inhalation of contaminated dust or by infection of a wound.	SCTID:42094007|EFO:0007494|UMLS:C0038034|GARD:0007692|Orphanet:826|MESH:D013174|ICD9:117.1|DOID:14484|ICD10CM:B42|MedDRA:10041736	mondo.json	rose gardener's disease	http://purl.obolibrary.org/obo/MONDO_0005968	http://identifiers.org/snomedct/42094007|http://identifiers.org/mesh/D013174|UMLS:C0038034|DOID:14484|http://purl.bioontology.org/ontology/ICD10CM/B42|Orphanet:826	ordo_disease|gard_rare
MONDO:0003307	biolink:Disease	multiple mucosal neuroma		DOID:5155|UMLS:C1334828|NCIT:C6559	mondo.json	multiple mucosal neuromas	http://purl.obolibrary.org/obo/MONDO_0003307	UMLS:C1334828|DOID:5155|NCIT:C6559	
MONDO:0030924	biolink:Disease	proteasome-associated autoinflammatory syndrome 5		OMIM:619175	mondo.json	proteasome-associated autoinflammatory syndrome 5|PRAAS5	http://purl.obolibrary.org/obo/MONDO_0030924	https://omim.org/entry/619175	
GO:0048864	biolink:NamedThing	stem cell development	The process whose specific outcome is the progression of the stem cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to its specific fate.		mondo.json		http://purl.obolibrary.org/obo/GO_0048864		
MONDO:0003300	biolink:Disease	appendix leiomyoma	A well-circumscribed benign smooth muscle neoplasm arising from the appendix. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	UMLS:C1332327|NCIT:C5514|DOID:5146	mondo.json	appendix leiomyoma|leiomyoma of vermiform appendix|appendiceal leiomyoma|vermiform appendix leiomyoma|leiomyoma of appendix|leiomyoma of the appendix	http://purl.obolibrary.org/obo/MONDO_0003300	DOID:5146|UMLS:C1332327|NCIT:C5514	
MONDO:0005963	biolink:Disease	sparganosis	A condition resulting from infection with the second stage larvae of the parasite Spirometra.	ICD10CM:B70.1|UMLS:C0037753|ICD9:123.5|NCIT:C35030|MESH:D013031|DOID:10080|SCTID:31659000|EFO:0007488	mondo.json	Spirometra infectious disease|Spirometra caused disease or disorder|sparganosis [larval diphyllobothriasis]|infection by sparganum|Spirometra disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005963	http://identifiers.org/snomedct/31659000|NCIT:C35030|http://identifiers.org/mesh/D013031|http://purl.bioontology.org/ontology/ICD10CM/B70.1|UMLS:C0037753|DOID:10080	
MONDO:0003301	biolink:Disease	dartoic leiomyoma	A cutaneous leiomyoma arising from the dartos muscle of the scrotum or labia majora.	NCIT:C4483|DOID:5147|UMLS:C0346066|ICD9:215.9|SCTID:254770007	mondo.json	dartos muscle leiomyoma|dartoic myoma|leiomyoma of dartos muscle|dartoic leiomyoma	http://purl.obolibrary.org/obo/MONDO_0003301	NCIT:C4483|UMLS:C0346066|DOID:5147|http://identifiers.org/snomedct/254770007	
MONDO:0005962	biolink:Disease	skeletal tuberculosis	Tuberculosis of the bones or joints.	MESH:D014394|ICD9:015|EFO:0007487|DOID:1639|UMLS:C0041324|SCTID:17653001|ICD9:015.9	mondo.json	osteoarticular tuberculosis	http://purl.obolibrary.org/obo/MONDO_0005962	http://identifiers.org/mesh/D014394|UMLS:C0041324|http://identifiers.org/snomedct/17653001|DOID:1639	
NCBITaxon:10379	biolink:OrganismalEntity	Rhadinovirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_10379		
MONDO:0030921	biolink:Disease	intellectual disability, autosomal dominant 55, with seizures		Orphanet:442835|UMLS:CN757796|OMIM:617831|DOID:0080227	mondo.json	mental retardation, autosomal dominant 55, with seizures|autosomal dominant mental retardation 55|MRD55|intellectual disability, autosomal dominant 55, with seizures|autosomal dominant intellectual disability 55	http://purl.obolibrary.org/obo/MONDO_0030921	https://omim.org/entry/617831|UMLS:CN757796|DOID:0080227	
MONDO:0005965	biolink:Disease	spinal stenosis	Narrowing of the spinal canal.	SCTID:76107001|MESH:D013130|EFO:0007490|ICD9:724.00|HP:0003416|ICD9:724.09|UMLS:C0158288|SCTID:18347007|DOID:6725|ICD9:723.0	mondo.json	cervical spinal stenosis|spinal stenosis of lumbar region|lumbar spinal stenosis	http://purl.obolibrary.org/obo/MONDO_0005965	DOID:6725|http://identifiers.org/mesh/D013130|http://identifiers.org/snomedct/76107001	
MONDO:0003302	biolink:Disease	epithelioid neurofibroma	A rare neurofibroma with epithelioid morphology.	SCTID:404032008|DOID:5149|ICD9:215.9|NCIT:C6558|UMLS:C1275264	mondo.json	epithelioid neurofibroma	http://purl.obolibrary.org/obo/MONDO_0003302	DOID:5149|http://identifiers.org/snomedct/404032008|NCIT:C6558|UMLS:C1275264	
MONDO:0003303	biolink:Disease	neurofibroma of gallbladder	A non-metastasizing encapsulated neoplasm arising from nerves in the gallbladder. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells.	DOID:5150|UMLS:C1333751|NCIT:C5746	mondo.json	neurofibroma of the gallbladder|neurofibroma of gallbladder|gallbladder neurofibroma|neurofibroma of gall bladder|gall bladder neurofibroma	http://purl.obolibrary.org/obo/MONDO_0003303	NCIT:C5746|DOID:5150|UMLS:C1333751	
MONDO:0030920	biolink:Disease	intellectual disability, autosomal dominant 54		OMIM:617799|DOID:0080230|EFO:0009164	mondo.json	autosomal dominant mental retardation 54|intellectual disability, autosomal dominant 54|autosomal dominant intellectual disability 54|MRD54|mental retardation, autosomal dominant 54	http://purl.obolibrary.org/obo/MONDO_0030920	https://omim.org/entry/617799|DOID:0080230	
MONDO:0005964	biolink:Disease	sphenoid sinusitis	An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus.	MESH:D015524|NCIT:C35031|EFO:0007489|DOID:10794|SCTID:13266007|UMLS:C0037886	mondo.json	sphenoidal sinusitis|sphenoid bone sinusitis|sinusitis of sphenoid bone	http://purl.obolibrary.org/obo/MONDO_0005964	DOID:10794|http://identifiers.org/mesh/D015524|NCIT:C35031|UMLS:C0037886|http://identifiers.org/snomedct/13266007	
UBERON:0012167	biolink:AnatomicalEntity	buccal fat pad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012167		
MONDO:0005961	biolink:Disease	sinusitis	An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity.	MESH:D012852|NCIT:C35024|ICD9:461|DOID:0050127|SCTID:36971009|ICD9:461.9|EFO:0007486|UMLS:C0037199	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005961	http://identifiers.org/snomedct/36971009|NCIT:C35024|DOID:0050127|UMLS:C0037199|http://identifiers.org/mesh/D012852	
MONDO:0005960	biolink:Disease	silicosis	Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20years) to low amounts of silica dust. Simple chronic silicosismay causepeople to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 yearsof exposure of higher levels of silica.Swelling of the lungsand other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica.The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition.	ICD9:502|MESH:D012829|GARD:0007647|SCTID:805002|UMLS:C0037116|DOID:10325|NCIT:C3369|EFO:0007485	mondo.json	nodular silicosis|silica pneumoconiosis|pneumoconiosis due to silicates|experimental silicosis|pneumoconiosis due to silica|accelerated silicosis|silicosis|chronic silicosis|silicotuberculosis|silicatosis|silicotic fibrosis of lung|acute silicosis|pneumoconiosis caused by silica	http://purl.obolibrary.org/obo/MONDO_0005960	UMLS:C0037116|http://identifiers.org/snomedct/805002|http://identifiers.org/mesh/D012829|DOID:10325|NCIT:C3369	gard_rare
MONDO:0030927	biolink:Disease	myofibrillar myopathy 11		OMIM:619178	mondo.json	myopathy, congenital, with eccentric cores|MFM11|myofibrillar myopathy 11	http://purl.obolibrary.org/obo/MONDO_0030927	https://omim.org/entry/619178	
MONDO:0017949	biolink:Disease	ABeta amyloidosis, Arctic type	Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages.	ICD10EXP:I68.0*|Orphanet:324723|ICD10EXP:E85.4+	mondo.json	ABetaE22G amyloidosis|hereditary cerebral hemorrhage with amyloidosis, Arctic type|cerebral amyloid angiopathy, APP-related, Arctic variant|HCHWA, Arctic type	http://purl.obolibrary.org/obo/MONDO_0017949	Orphanet:324723	ordo_clinical_subtype
MONDO:0030926	biolink:Disease	spermatogenic failure 51		OMIM:619177	mondo.json	SPGF51|spermatogenic failure 51	http://purl.obolibrary.org/obo/MONDO_0030926	https://omim.org/entry/619177	
MONDO:0030929	biolink:Disease	microcephaly 27, primary, autosomal dominant		OMIM:619180	mondo.json	MCPH27|microcephaly 27, primary, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0030929	https://omim.org/entry/619180	
UBERON:0012168	biolink:AnatomicalEntity	umbilical cord blood			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012168		
MONDO:0030928	biolink:Disease	microcephaly 26, primary, autosomal dominant		OMIM:619179	mondo.json	MCPH26|microcephaly 26, primary, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0030928	https://omim.org/entry/619179	
MONDO:0017956	biolink:Disease	obsolete mixed autoinflammatory and autoimmune syndrome		Orphanet:324933|UMLS:CN204102	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017956	Orphanet:324933|UMLS:CN204102	ordo_group_of_disorders
MONDO:0017957	biolink:Disease	obsolete unclassified autoinflammatory syndrome		Orphanet:324936|UMLS:CN204103	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017957	Orphanet:324936|UMLS:CN204103	disease_grouping|ordo_group_of_disorders
MONDO:0042902	biolink:Disease	Say-Carpenter syndrome		GARD:0000240	mondo.json	Say Carpenter syndrome|metaphyseal dysplasia hypertelorism hypospadias	http://purl.obolibrary.org/obo/MONDO_0042902		gard_rare
MONDO:0017958	biolink:Disease	magic syndrome		GARD:0013371|UMLS:CN204105|Orphanet:324972	mondo.json	mouth and genital ulcers with inflamed cartilage	http://purl.obolibrary.org/obo/MONDO_0017958	Orphanet:324972|UMLS:CN204105	ordo_disease
MONDO:0017959	biolink:Disease	obsolete JMP syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017959		
HGNC:9349	biolink:NamedThing	PRDM5			mondo.json		http://identifiers.org/hgnc/9349		
MONDO:0017952	biolink:Disease	obsolete non-familial rare disease with dilated cardiomyopathy		Orphanet:324767|UMLS:CN204097	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017952	UMLS:CN204097|Orphanet:324767	ordo_group_of_disorders
MONDO:0017953	biolink:Disease	hereditary periodic fever syndrome	An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome.	Orphanet:324924|MESH:D056660|UMLS:CN204099	mondo.json	hereditary periodic fever syndrome	http://purl.obolibrary.org/obo/MONDO_0017953	Orphanet:324924|http://identifiers.org/mesh/D056660|UMLS:CN204099	disease_grouping|ordo_group_of_disorders
MONDO:0017954	biolink:Disease	pyogenic autoinflammatory syndrome		Orphanet:324927|UMLS:CN204100	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017954	Orphanet:324927|UMLS:CN204100	disease_grouping|ordo_group_of_disorders
MONDO:0017955	biolink:Disease	granulomatous autoinflammatory syndrome		Orphanet:324930|UMLS:CN204101	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017955	Orphanet:324930|UMLS:CN204101	ordo_group_of_disorders|disease_grouping
GO:0061844	biolink:NamedThing	antimicrobial humoral immune response mediated by antimicrobial peptide	An immune response against microbes mediated by anti-microbial peptides in body fluid.		mondo.json	peptide-mediated antimicrobial humoral response|antimicrobial peptide-mediated antimicrobial humoral response	http://purl.obolibrary.org/obo/GO_0061844		
NCBITaxon:2662056	biolink:OrganismalEntity	Retaria		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2662056		
GO:0048869	biolink:NamedThing	cellular developmental process	A biological process whose specific outcome is the progression of a cell over time from an initial condition to a later condition.		mondo.json		http://purl.obolibrary.org/obo/GO_0048869		
HGNC:9343	biolink:NamedThing	PRCC			mondo.json		http://identifiers.org/hgnc/9343		
MONDO:0017950	biolink:Disease	microcephalic primordial dwarfism		UMLS:CN437676|Orphanet:324761	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017950	UMLS:CN437676|Orphanet:324761	disease_grouping|ordo_group_of_disorders
MONDO:0017951	biolink:Disease	trichorhinophalangeal syndrome		ICD9:759.89|SCTID:18077009|OMIMPS:190350|UMLS:C0265255|Orphanet:324764	mondo.json	TRPS	http://purl.obolibrary.org/obo/MONDO_0017951	UMLS:C0265255|http://identifiers.org/snomedct/18077009|https://omim.org/phenotypicSeries/PS190350|Orphanet:324764	ordo_group_of_disorders|disease_grouping
MONDO:0005959	biolink:Disease	sick building syndrome	A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (alveolitis, extrinsic allergic); allergic rhinitis (rhinitis, allergic, perennial); asthma; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992)	EFO:0007484|UMLS:C0037050|SCTID:19076009|DOID:2710|MESH:D018877	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005959	http://identifiers.org/snomedct/19076009|DOID:2710|http://identifiers.org/mesh/D018877|UMLS:C0037050	
NCBITaxon:10372	biolink:OrganismalEntity	Human betaherpesvirus 7		GC_ID:1	mondo.json	human herpesvirus 7 HHV-7|Human herpesvirus 7|HHV-7|Herpes simplex virus 7|Human herpesvirus type 7	http://purl.obolibrary.org/obo/NCBITaxon_10372		
MONDO:0042908	biolink:Disease	obsolete Schaap-Taylor-Baraitser syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0042908		
GO:0048872	biolink:NamedThing	homeostasis of number of cells	Any biological process involved in the maintenance of the steady-state number of cells within a population of cells.		mondo.json	homeostasis of cell number|cell population homeostasis	http://purl.obolibrary.org/obo/GO_0048872		
MONDO:0005978	biolink:Disease	theileriasis	Infection of cattle, sheep, or goats with protozoa of the genus theileria. This infection results in an acute or chronic febrile condition.	EFO:0007506|MESH:D013801|SCTID:68771000|DOID:3733|ICD9:136.8|UMLS:C0039753	mondo.json	infection by Theileria|theileriosis	http://purl.obolibrary.org/obo/MONDO_0005978	UMLS:C0039753|http://identifiers.org/snomedct/68771000|http://identifiers.org/mesh/D013801|DOID:3733	
MONDO:0003315	biolink:Disease	endometrium carcinoma in situ	A carcinoma in situ involving a endometrium.	DOID:5172|SCTID:92582009|UMLS:C0346191|ICD9:233.2|ICD10CM:D07.0	mondo.json	endometrial carcinoma in situ|stage 0 endometrium carcinoma|endometrium in situ carcinoma|carcinoma in situ of endometrium	http://purl.obolibrary.org/obo/MONDO_0003315	UMLS:C0346191|http://purl.bioontology.org/ontology/ICD10CM/D07.0|http://identifiers.org/snomedct/92582009|DOID:5172	
CHEBI:25985	biolink:ChemicalSubstance	phenylalanine derivative	An amino acid derivative resulting from reaction of alanine at the amino group or the carboxy group, or from the replacement of any hydrogen of phenylalanine  by a heteroatom. The definition normally excludes peptides containing phenylalanine  residues.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_25985		
MONDO:0030934	biolink:Disease	intellectual developmental disorder, autosomal dominant 64		OMIM:619188	mondo.json	intellectual developmental disorder, autosomal dominant 64|mental retardation, autosomal dominant 64|MRD64	http://purl.obolibrary.org/obo/MONDO_0030934	https://omim.org/entry/619188	
MONDO:0005977	biolink:Disease	tabes dorsalis	A form of neurosyphilis characterized by slowly progressive degeneration of the spinal cord. Signs and symptoms include pain, ataxia, loss of coordination, personality changes, blindness, urinary incontinence, dementia, and degeneration of the joints.	MESH:D013606|DOID:10027|NCIT:C35057|ICD10CM:A52.11|EFO:0007505|UMLS:C0039223|ICD9:094.0|SCTID:316841006|GARD:0008730	mondo.json	posterior spinal sclerosis|tabes dorsalis - neurosyphilis|syphilitic myelopathy	http://purl.obolibrary.org/obo/MONDO_0005977	UMLS:C0039223|NCIT:C35057|http://purl.bioontology.org/ontology/ICD10CM/A52.11|http://identifiers.org/mesh/D013606|http://identifiers.org/snomedct/316841006|DOID:10027	
GO:0048873	biolink:NamedThing	homeostasis of number of cells within a tissue	Any biological process involved in the maintenance of the steady-state number of cells within a population of cells in a tissue.		mondo.json		http://purl.obolibrary.org/obo/GO_0048873		
MONDO:0030933	biolink:Disease	Joubert syndrome 37		OMIM:619185	mondo.json	JBTS37|Joubert syndrome 37	http://purl.obolibrary.org/obo/MONDO_0030933	https://omim.org/entry/619185	
MONDO:0003316	biolink:Disease	nonanaplastic kidney Wilms tumor	Wilms tumor of the kidney characterized by the absence of nuclear anaplasia.	NCIT:C6951|UMLS:C1335062	mondo.json	nonanaplastic renal Wilm's tumor|nonanaplastic renal Wilms' tumor|nonanaplastic renal Wilms tumor|nonanaplastic kidney Wilms tumor	http://purl.obolibrary.org/obo/MONDO_0003316	UMLS:C1335062|NCIT:C6951	
MONDO:0030936	biolink:Disease	epilepsy, progressive myoclonic, 12		OMIM:619191	mondo.json	epilepsy, progressive myoclonic, 12|EPM12	http://purl.obolibrary.org/obo/MONDO_0030936	https://omim.org/entry/619191	
MONDO:0003317	biolink:Disease	metachronous kidney Wilms' tumor	Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor.	NCIT:C38158|DOID:5178|UMLS:C1334705	mondo.json	metachronous Wilms tumor|metachronous Wilms tumor of the kidney|metachronous Wilms' tumor	http://purl.obolibrary.org/obo/MONDO_0003317	UMLS:C1334705|DOID:5178|NCIT:C38158	
MONDO:0030935	biolink:Disease	mitochondrial complex 2 deficiency, nuclear type 2		OMIM:619166	mondo.json	mitochondrial complex II deficiency, nuclear type 2|MC2DN2|mitochondrial complex 2 deficiency, nuclear type 2	http://purl.obolibrary.org/obo/MONDO_0030935	https://omim.org/entry/619166	
MONDO:0003318	biolink:Disease	mixed cell type kidney Wilms' tumor	Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern).	UMLS:C0279611|NCIT:C9149|DOID:5179	mondo.json	mixed cell type renal Wilms' tumor|mixed cell type kidney Wilms tumor|mixed cell type renal adenosarcoma|mixed cell type kidney adenosarcoma|mixed cell type renal Wilm's tumor|mixed cell type nephroblastoma|mixed cell type renal Wilms tumor|Mixed cell type Wilms tumor	http://purl.obolibrary.org/obo/MONDO_0003318	DOID:5179|UMLS:C0279611|NCIT:C9149	
MONDO:0005979	biolink:Disease	thoracic outlet syndrome	A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip.	MedDRA:10048627|UMLS:C0039984|EFO:0007507|SCTID:128210009|MESH:D013901|NCIT:C85188|Orphanet:97330|DOID:3103	mondo.json	thoracic outlet compression syndrome|TOS|TOS - thoracic outlet syndrome	http://purl.obolibrary.org/obo/MONDO_0005979	UMLS:C0039984|Orphanet:97330|http://identifiers.org/mesh/D013901|DOID:3103|NCIT:C85188|http://identifiers.org/snomedct/128210009	ordo_disease
GO:0048875	biolink:NamedThing	chemical homeostasis within a tissue	Any process involved in the maintenance of the internal steady state of the amount of a chemical at the level of the tissue.		mondo.json		http://purl.obolibrary.org/obo/GO_0048875		
MONDO:0005974	biolink:Disease	strongyloidiasis	An infection that is caused by nematodes of the genus Strongyloides, most commonly Strongyloides stercoralis, which is a soil-transmitted helminth, and which is characterized by a variety of gastrointestinal, dermatologic, and, occasionally, pulmonary manifestations. The worm's autoinfective life cycle can lead to hyper-infection and life-threatening dissemination in immunocompromised hosts decades after initial infection.	SCTID:187176005|DOID:10955|MedDRA:10042254|UMLS:C0348996|GARD:0008195|MESH:D013322|NCIT:C128398|EFO:0007501|Orphanet:76|ICD9:127.2|UMLS:C0085810|UMLS:C0038463	mondo.json	Anguillulosis|Anguilluliasis|infection by Strongyloides|disseminated strongyloidiasis	http://purl.obolibrary.org/obo/MONDO_0005974	DOID:10955|http://identifiers.org/mesh/D013322|UMLS:C0085810|UMLS:C0038463|NCIT:C128398|Orphanet:76|UMLS:C0348996|http://identifiers.org/snomedct/187176005	ordo_disease
MONDO:0003311	biolink:Disease	endometrial stromal tumor	Neoplasms of the endometrial stroma that sometimes involve the myometrium. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (sarcoma, endometrial stromal).	SCTID:446887007|MESH:D036821|UMLS:C0334695|DOID:5166|ICD9:239.5|EFO:1000920	mondo.json	endometrial stromal tumor|tumor of endometrial stroma|endometrial stroma neoplasm|endometrial stromal neoplasm|neoplasm of endometrial stroma|endometrial stromal tumor (morphologic abnormality)|endometrial stroma tumor	http://purl.obolibrary.org/obo/MONDO_0003311	UMLS:C0334695|DOID:5166|http://identifiers.org/snomedct/446887007|http://identifiers.org/mesh/D036821	
MONDO:0030930	biolink:Disease	neurodevelopmental disorder with or without early-onset generalized epilepsy		OMIM:619157	mondo.json	NEDEGE	http://purl.obolibrary.org/obo/MONDO_0030930	https://omim.org/entry/619157	
UBERON:0012152	biolink:AnatomicalEntity	skeleton of pedal digitopodium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012152		
MONDO:0003312	biolink:Disease	ovarian endometrioid stromal and related neoplasms	A category of rare neoplasms that arise from the ovary. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma.	DOID:5169|UMLS:C4288544|NCIT:C40065	mondo.json	ovarian endometrioid stromal sarcoma|endometrioid stromal and related neoplasms of ovary|ovary endometrioid stromal and related neoplasms|ovarian endometrioid stromal and related neoplasms	http://purl.obolibrary.org/obo/MONDO_0003312	NCIT:C40065|DOID:5169|UMLS:C4288544	
MONDO:0005973	biolink:Disease	Strongylida infectious disease	Infections with nematodes of the order strongylida.	MESH:D017206|EFO:0007500	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005973	http://identifiers.org/mesh/D017206	
UBERON:0012151	biolink:AnatomicalEntity	skeleton of manual digitopodium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012151		
HGNC:9350	biolink:NamedThing	PRDM6			mondo.json		http://identifiers.org/hgnc/9350		
MONDO:0003313	biolink:Disease	endometrioid stromal sarcoma of the vagina	A rare sarcoma that arises from the vagina. This category includes low grade endometrioid stromal sarcoma and undifferentiated vaginal sarcoma.	DOID:5170|UMLS:C3642329|NCIT:C40270	mondo.json	endometrioid stromal sarcoma of vagina|endometrioid stromal sarcoma of the vagina|vagina endometrioid stromal sarcoma|vaginal endometrial stromal sarcoma	http://purl.obolibrary.org/obo/MONDO_0003313	NCIT:C40270|DOID:5170|UMLS:C3642329	
MONDO:0005976	biolink:Disease	syphilis	A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system.	NCIT:C35055|DOID:4166|MedDRA:10062120|ICD9:097.9|SCTID:76272004|EFO:0007504|MESH:D013587	mondo.json	Treponema pallidum infectious disease|Treponema pallidum caused disease or disorder|Treponema pallidum disease or disorder|syphilitic chancre	http://purl.obolibrary.org/obo/MONDO_0005976	NCIT:C35055|DOID:4166|http://identifiers.org/mesh/D013587|http://identifiers.org/snomedct/76272004	
UBERON:0012150	biolink:AnatomicalEntity	skeleton of digitopodium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012150		
GO:0048878	biolink:NamedThing	chemical homeostasis	Any biological process involved in the maintenance of an internal steady state of a chemical.		mondo.json		http://purl.obolibrary.org/obo/GO_0048878		
MONDO:0003314	biolink:Disease	endometrioid stromal and related neoplasms of the vagina	A category of rare neoplasms that arise from the vagina. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma.	UMLS:C4289585|NCIT:C40269|DOID:5171	mondo.json	endometrioid stromal and related tumors of the vagina|vaginal endometrial stromal tumor|vagina endometrioid stromal and related neoplasms|endometrioid stromal and related neoplasms of the vagina|endometrioid stromal and related neoplasms of vagina	http://purl.obolibrary.org/obo/MONDO_0003314	NCIT:C40269|DOID:5171|UMLS:C4289585	
MONDO:0005975	biolink:Disease	suppurative otitis media	Inflammation of the middle ear with purulent discharge.	SCTID:39288006|DOID:11506|EFO:0007503|ICD9:382|ICD9:382.4|UMLS:C0029888|MESH:D010035	mondo.json	purulent otitis media|otitis media with effusion - purulent	http://purl.obolibrary.org/obo/MONDO_0005975	http://identifiers.org/snomedct/39288006|http://identifiers.org/mesh/D010035|DOID:11506|UMLS:C0029888	
MONDO:0030931	biolink:Disease	proteasome-associated autoinflammatory syndrome 4		OMIM:619183	mondo.json	PRAAS4|proteasome-associated autoinflammatory syndrome 4	http://purl.obolibrary.org/obo/MONDO_0030931	https://omim.org/entry/619183	
MONDO:0005970	biolink:Disease	staphylococcal pneumonia	Pneumonia caused by infections with bacteria of the genus staphylococcus, usually with staphylococcus aureus.	MESH:D011023|ICD9:482.4|ICD9:482.40|EFO:0007496|ICD9:482.49|SCTID:22754005	mondo.json	Staphylococcus caused pneumonia|Staphylococcus pneumonia	http://purl.obolibrary.org/obo/MONDO_0005970	http://identifiers.org/mesh/D011023|http://identifiers.org/snomedct/22754005	
NCBITaxon:1716	biolink:OrganismalEntity	Corynebacterium		PMID:10425754|PMID:8186090|GC_ID:11|PMID:30186281|PMID:29760685|PMID:7547284|PMID:7547293|PMID:19661509|PMID:7547291	mondo.json	Turicella	http://purl.obolibrary.org/obo/NCBITaxon_1716		
NCBITaxon:1717	biolink:OrganismalEntity	Corynebacterium diphtheriae		GC_ID:11|PMID:7729671	mondo.json	Pacinia loeffleri|Microsporon diphthericum|Mycobacterium diphtheriae|Microsporon diphtheriticum|Bacterium diphtheriae|Bacillus diphtheriae	http://purl.obolibrary.org/obo/NCBITaxon_1717		
MONDO:0005972	biolink:Disease	streptococcal pneumonia	A febrile disease caused by streptococcus pneumoniae.	SCTID:233607000|ICD9:482.30|EFO:0007499|ICD10CM:J13|MESH:D011018|ICD9:481|ICD9:482.39|DOID:0040084|UMLS:C0155862	mondo.json	Streptococcus pneumoniae pneumonia|streptococcal pneumonia|Streptococcus pneumoniae caused pneumonia|pneumonia due to streptococcus|pneumonia caused by streptococcus|pneumococcal pneumonia|Streptococcus pneumonia	http://purl.obolibrary.org/obo/MONDO_0005972	http://identifiers.org/mesh/D011018|http://purl.bioontology.org/ontology/ICD10CM/J13|http://identifiers.org/snomedct/233607000|UMLS:C0155862|DOID:0040084	
MONDO:0005971	biolink:Disease	staphyloenterotoxemia	Food poisoning that is caused by Staphylococcal infection.	NCIT:C35037|SCTID:84622004|UMLS:C0038159|DOID:96|EFO:0007497|MESH:D013202|GARD:0009559|ICD9:005.0	mondo.json	staphylococcal food poisoning|staphylococcal toxaemia due to food|staphyloenterotoxicosis	http://purl.obolibrary.org/obo/MONDO_0005971	UMLS:C0038159|http://identifiers.org/mesh/D013202|http://identifiers.org/snomedct/84622004|DOID:96|NCIT:C35037	
MONDO:0003310	biolink:Disease	Monckeberg arteriosclerosis	A type of arteriosclerosis in which calcification of the tunica media is the predominant feature.	DOID:5161|NCIT:C35770|UMLS:C0887866	mondo.json	Mönckeberg arteriosclerosis	http://purl.obolibrary.org/obo/MONDO_0003310	UMLS:C0887866|DOID:5161|NCIT:C35770	
UBERON:0036146	biolink:AnatomicalEntity	cardiopharyngeal field			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036146		
MONDO:0030938	biolink:Disease	spermatogenic failure 52		OMIM:619202	mondo.json	SPGF52|spermatogenic failure 52	http://purl.obolibrary.org/obo/MONDO_0030938	https://omim.org/entry/619202	
MONDO:0017938	biolink:Disease	obsolete X-linked cleft palate and ankyloglossia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017938		
MONDO:0030937	biolink:Disease	mitochondrial complex 2 deficiency, nuclear type 3		OMIM:619167	mondo.json	MC2DN3|mitochondrial complex 2 deficiency, nuclear type 3|mitochondrial complex II deficiency, nuclear type 3	http://purl.obolibrary.org/obo/MONDO_0030937	https://omim.org/entry/619167	
MONDO:0017939	biolink:Disease	minicore myopathy		UMLS:CN204085|Orphanet:324604	mondo.json	classic multiminicore disease|classic multiminicore myopathy|classic MmD	http://purl.obolibrary.org/obo/MONDO_0017939	UMLS:CN204085|Orphanet:324604	ordo_clinical_subtype
GO:0048870	biolink:NamedThing	cell motility	Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another.		mondo.json	cell locomotion|movement of a cell|cell movement	http://purl.obolibrary.org/obo/GO_0048870		
MONDO:0030939	biolink:Disease	premature ovarian failure 18		OMIM:619203	mondo.json	POF18|premature ovarian failure 18	http://purl.obolibrary.org/obo/MONDO_0030939	https://omim.org/entry/619203	
GO:0048871	biolink:NamedThing	multicellular organismal homeostasis	Any process involved in the maintenance of an internal steady state at the level of the multicellular organism.		mondo.json		http://purl.obolibrary.org/obo/GO_0048871		
MONDO:0017945	biolink:Disease	ABetaL34V amyloidosis	Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.	ICD10EXP:I68.0*|Orphanet:324703|ICD10EXP:E85.4+	mondo.json	HCHWA, Piedmont type|ABeta amyloidosis, Piedmont type|hereditary cerebral hemorrhage with amyloidosis, Piedmont type|ABetaL34V-related amyloidosis	http://purl.obolibrary.org/obo/MONDO_0017945	Orphanet:324703	ordo_clinical_subtype
MONDO:0042912	biolink:Disease	Schlegelberger-Grote syndrome		MESH:C536635|GARD:0000255|UMLS:C2931273	mondo.json	syndrome with triphalangia of thumbs, thrombasthenia Glanzmann and deafness of internal ear|triphalangeal thumbs thrombocytopathy deafness|Schlegelberger Grote syndrome	http://purl.obolibrary.org/obo/MONDO_0042912	http://identifiers.org/mesh/C536635|UMLS:C2931273	gard_rare
UBERON:0000170	biolink:AnatomicalEntity	pair of lungs			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000170		
MONDO:0042913	biolink:Disease	Schrander-stumpel-Theunissen-Hulsmans syndrome		UMLS:C2931275|GARD:0000256|MESH:C536639	mondo.json	vitiligo, psychomotor retardation, cleft palate and facial dysmorphism|vitiligo vulgaris, cleft palate, somatic and psychomotor retardation and facial dysmorphism|Schrander-Stumpel Theunissen Hulsmans syndrome	http://purl.obolibrary.org/obo/MONDO_0042913	http://identifiers.org/mesh/C536639|UMLS:C2931275	gard_rare
MONDO:0017946	biolink:Disease	ABeta amyloidosis, Iowa type	Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages.	Orphanet:324708|ICD10EXP:E85.4+|ICD10EXP:I68.0*	mondo.json	ABetaD23N amyloidosis|cerebral amyloid angiopathy, APP-related, Iowa variant|HCHWA, Iowa type|hereditary cerebral hemorrhage with amyloidosis, Iowa type	http://purl.obolibrary.org/obo/MONDO_0017946	Orphanet:324708	ordo_clinical_subtype
UBERON:0000171	biolink:AnatomicalEntity	respiration organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000171		
MONDO:0017947	biolink:Disease	ABeta amyloidosis, Italian type	Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage.	ICD10EXP:I68.0*|Orphanet:324713|ICD10EXP:E85.4+	mondo.json	hereditary cerebral hemorrhage with amyloidosis, Italian type|HCHWA, Italian type|cerebral amyloid angiopathy, APP-related, Italian variant|ABetaE22K amyloidosis	http://purl.obolibrary.org/obo/MONDO_0017947	Orphanet:324713	ordo_clinical_subtype
HGNC:9359	biolink:NamedThing	SLC26A5			mondo.json		http://identifiers.org/hgnc/9359		
CHEBI:37962	biolink:ChemicalSubstance	adrenergic agent	Any agent that acts on an adrenergic receptor or affects the life cycle of an adrenergic transmitter.		mondo.json	adrenergics|adrenergic neuron agents|adrenergic drug|adrenergic agents|adrenergic drugs	http://purl.obolibrary.org/obo/CHEBI_37962		
MONDO:0017948	biolink:Disease	ABetaA21G amyloidosis	Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients.	Orphanet:324718|ICD10EXP:E85.4+|ICD10EXP:I68.0*	mondo.json	cerebral amyloid angiopathy, APP-related, Flemish variant|ABetaA21G-related amyloidosis|hereditary cerebral hemorrhage with amyloidosis, Flemish type|ABeta amyloidosis, Flemish type|HCHWA, Flemish type	http://purl.obolibrary.org/obo/MONDO_0017948	Orphanet:324718	ordo_clinical_subtype
MONDO:0042915	biolink:Disease	obsolete Schmitt-Gillenwater-Kelly syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0042915		
UBERON:0000173	biolink:AnatomicalEntity	amniotic fluid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000173		
MONDO:0017941	biolink:Disease	chikungunya	An infection that is caused by the Chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia.	MESH:D065632|Orphanet:324625|SCTID:111864006|NCIT:C128422|UMLS:C0008055|DOID:0050012|GARD:0006038	mondo.json	Chikungunya virus infection|Chikungunya virus infectious disease|Chikungunya virus caused disease or disorder|Chikungunya virus disease or disorder|CHIKV infection|CK|arbovirus A Chikungunya type|CHIK|Chikungunya fever	http://purl.obolibrary.org/obo/MONDO_0017941	Orphanet:324625|DOID:0050012|UMLS:C0008055|http://identifiers.org/snomedct/111864006|NCIT:C128422|http://identifiers.org/mesh/D065632	gard_rare|ordo_disease
MONDO:0017942	biolink:Disease	Hendra virus infection	Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported.	Orphanet:324632	mondo.json	Hendra henipavirus disease or disorder|Hendra henipavirus infectious disease|Hendra henipavirus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0017942	Orphanet:324632	ordo_disease
MONDO:0017943	biolink:Disease	autoerythrocyte sensitization syndrome		UMLS:C0301928|GARD:0006481|Orphanet:324636|ICD9:287.2|MESH:C535645|SCTID:275446004	mondo.json	GDS|Gardner-Diamond syndrome|psychogenic purpura|painful bruising syndrome|Autoerythrocyte sensitization purpura|Autoerythrocyte sensitization	http://purl.obolibrary.org/obo/MONDO_0017943	Orphanet:324636|http://identifiers.org/snomedct/275446004|http://identifiers.org/mesh/C535645|UMLS:C0301928	ordo_disease
MONDO:0017944	biolink:Disease	invasive non-typhoidal salmonellosis	Invasive non-typhoidal salmonellosis (iNTS) is a rare bacterial infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachnypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ absseses, septic shock and meningitis may be observed.	SCTID:763772002|Orphanet:324648	mondo.json	invasive non-typhoidal salmonella disease|iNTS disease	http://purl.obolibrary.org/obo/MONDO_0017944	Orphanet:324648|http://identifiers.org/snomedct/763772002	ordo_disease
MONDO:0042911	biolink:Disease	Schwartz-Cohen-addad-Lambert syndrome		GARD:0000253|MESH:C535835|UMLS:C2931036	mondo.json	Schwartz Cohen-Addad Lambert syndrome|congenital melanocytosis with myelomeningocele and hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0042911	http://identifiers.org/mesh/C535835|UMLS:C2931036	gard_rare
UBERON:0000178	biolink:AnatomicalEntity	blood			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000178		
UBERON:0000179	biolink:AnatomicalEntity	haemolymphatic fluid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000179		
MONDO:0017940	biolink:Disease	autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.	Orphanet:324611|UMLS:CN204086|SCTID:764730007	mondo.json	CMT2 due to KIF5A mutation	http://purl.obolibrary.org/obo/MONDO_0017940	Orphanet:324611|http://identifiers.org/snomedct/764730007|UMLS:CN204086	ordo_disease
MONDO:0003308	biolink:Disease	pleural mesothelioma	A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath.	ONCOTREE:PLMESO|HP:0100002|SCTID:109372009|NCIT:C9351|DOID:5157|EFO:1000485	mondo.json	benign pleural mesothelioma|pleural mesothelioma (disease)|pleura mesothelioma|pleural mesothelioma (disease), benign|mesothelioma of the pleura|pleural mesothelioma|mesothelioma of pleura	http://purl.obolibrary.org/obo/MONDO_0003308	http://identifiers.org/snomedct/109372009|NCIT:C9351	
UBERON:0000174	biolink:AnatomicalEntity	excreta	A portion of organism substance that is the product of an excretion process that will be eliminated from the body. An excretion process is elimination by an organism of the waste products that arise as a result of metabolic activity		mondo.json	excretion|portion of excreted substance|excreted substance|waste substance	http://purl.obolibrary.org/obo/UBERON_0000174		
MONDO:0003309	biolink:Disease	obsolete pleural cancer			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003309		
CHR:9606-chr16p12.1-p12.3	biolink:NamedThing	16p12.1-p12.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr16p12.1-p12.3		
MONDO:0005945	biolink:Disease	rhinoscleroma	A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin.	ICD9:040.1|SCTID:72409005|UMLS:C0035468|DOID:11336|EFO:0007470|MESH:D012226	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005945	UMLS:C0035468|DOID:11336|http://identifiers.org/snomedct/72409005|http://identifiers.org/mesh/D012226	
MONDO:0005944	biolink:Disease	Rhabdoviridae infectious disease	Virus diseases caused by rhabdoviridae. Important infections include rabies; ephemeral fever; and vesicular stomatitis.	MESH:D018353|EFO:0007469|UMLS:C0206751	mondo.json	Rhabdoviridae infection|infections, Rhabdoviridae|infection, Rhabdoviridae	http://purl.obolibrary.org/obo/MONDO_0005944	UMLS:C0206751|http://identifiers.org/mesh/D018353	
MONDO:0030947	biolink:Disease	neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities		Orphanet:610573|OMIM:619173	mondo.json	CONRIBA|neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities	http://purl.obolibrary.org/obo/MONDO_0030947	https://omim.org/entry/619173|Orphanet:610573	
MONDO:0005947	biolink:Disease	rickettsial pneumonia	Pneumonia caused by infection with bacteria of the family rickettsiaceae.	EFO:0007472|ICD9:484.8|SCTID:233621003|MESH:D011022|UMLS:C0032307	mondo.json	Rickettsiaceae caused pneumonia|Rickettsiaceae pneumonia	http://purl.obolibrary.org/obo/MONDO_0005947	http://identifiers.org/snomedct/233621003|UMLS:C0032307|http://identifiers.org/mesh/D011022	
UBERON:0036150	biolink:AnatomicalEntity	skin appendage follicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0036150		
MONDO:0005946	biolink:Disease	rhinosporidiosis	Chronic, localized granulomatous infection of mucocutaneous tissues, especially the nose, and characterized by hyperplasia and the development of polyps. It is found in humans and other animals and is caused by the mesomycetozoean organism rhinosporidium seeberi.	ICD10CM:B48.1|MESH:D012227|ICD9:117.0|UMLS:C0035469|EFO:0007471|DOID:2409|SCTID:18140003	mondo.json	Rhinosporidium seeberi disease or disorder|Rhinosporidium seeberi infectious disease|Rhinosporidium seeberi caused disease or disorder|infection by Rhinosporidium seeberi|Rhinosporidioses	http://purl.obolibrary.org/obo/MONDO_0005946	UMLS:C0035469|DOID:2409|http://identifiers.org/snomedct/18140003|http://purl.bioontology.org/ontology/ICD10CM/B48.1|http://identifiers.org/mesh/D012227	clingen
MONDO:0005941	biolink:Disease	retroperitoneal cancer	A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas.	ICD9:158.0|ICD9:158|MESH:D012186|DOID:5875|NCIT:C3357|SCTID:126872008|NCIT:C3537|EFO:0007466	mondo.json	malignant neoplasm of retroperitoneum|malignant neoplasm of retroperitoneum and peritoneum|neoplasm of the retroperitoneum|neoplasm of retroperitoneum|malignant neoplasm of retroperitoneal space|malignant tumor of peritoneum and retroperitoneum|malignant retroperitoneal neoplasm|malignant retroperitoneal space neoplasm|retroperitoneal space cancer|malignant retroperitoneal cancer|tumor of retroperitoneum|cancer of retroperitoneal space|retroperitoneal neoplasm	http://purl.obolibrary.org/obo/MONDO_0005941	NCIT:C3537|http://identifiers.org/mesh/D012186|DOID:5875|http://identifiers.org/snomedct/126872008	
HGNC:9360	biolink:NamedThing	PRF1			mondo.json		http://identifiers.org/hgnc/9360		
MONDO:0030941	biolink:Disease	erythrokeratodermia variabilis et progressiva 7		OMIM:619209	mondo.json	EKVP7|erythrokeratodermia variabilis et progressiva 7	http://purl.obolibrary.org/obo/MONDO_0030941	https://omim.org/entry/619209	
UBERON:0012141	biolink:AnatomicalEntity	manual digitopodium region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012141		
NCBITaxon:10357	biolink:OrganismalEntity	Betaherpesvirinae		GC_ID:1	mondo.json	Betaherpesviruses	http://purl.obolibrary.org/obo/NCBITaxon_10357		
UBERON:0012140	biolink:AnatomicalEntity	digitopodium region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012140		
MONDO:0005940	biolink:Disease	respirovirus infectious disease	Infections with viruses of the genus respirovirus, family paramyxoviridae. Host cell infection occurs by adsorption, via hemagglutinin, to the cell surface.	MESH:D010253|UMLS:C3714630|EFO:0007465	mondo.json	infections, Respirovirus	http://purl.obolibrary.org/obo/MONDO_0005940	UMLS:C3714630|http://identifiers.org/mesh/D010253	
MONDO:0005943	biolink:Disease	Rhabditida infectious disease	Infections with nematodes of the order rhabditida.	GARD:0008203|UMLS:C0162631|EFO:0007468|MESH:D017196	mondo.json	infection, Rhabditida|infections, Rhabditida|Rhabditida infections|Rhabditida infection	http://purl.obolibrary.org/obo/MONDO_0005943	http://identifiers.org/mesh/D017196|UMLS:C0162631	
CHEBI:50910	biolink:ChemicalSubstance	neurotoxin	A poison that interferes with the functions of the nervous system.		mondo.json	neurotoxins|neurotoxicant|nerve poisons|agente neurotoxico|neurotoxic agents|neurotoxic agent|nerve poison	http://purl.obolibrary.org/obo/CHEBI_50910		
NCBITaxon:10358	biolink:OrganismalEntity	Cytomegalovirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_10358		
MONDO:0005942	biolink:Disease	Reye syndrome	An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use.	ICD9:331.81|MedDRA:10039012|Orphanet:3096|MESH:D012202|NCIT:C34983|SCTID:74351001|GARD:0007570|DOID:14525|EFO:0007467|UMLS:C0035400	mondo.json	Reye's syndrome	http://purl.obolibrary.org/obo/MONDO_0005942	Orphanet:3096|http://identifiers.org/snomedct/74351001|http://identifiers.org/mesh/D012202|DOID:14525|NCIT:C34983|UMLS:C0035400	ordo_disease
UBERON:0012142	biolink:AnatomicalEntity	pedal digitopodium region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012142		
MONDO:0017927	biolink:Disease	severe lateral tibial bowing with short stature	Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.	UMLS:CN204066|SCTID:766819001|Orphanet:324307	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017927	UMLS:CN204066|Orphanet:324307|http://identifiers.org/snomedct/766819001	ordo_disease
MONDO:0017928	biolink:Disease	9p13 microdeletion syndrome	9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).	Orphanet:324313|UMLS:CN204067|SCTID:764725008	mondo.json	monosomy 9p13|Del(9)(p13)	http://purl.obolibrary.org/obo/MONDO_0017928	http://identifiers.org/snomedct/764725008|UMLS:CN204067|Orphanet:324313	ordo_malformation_syndrome
GO:0048880	biolink:NamedThing	sensory system development	The process whose specific outcome is the progression of a sensory system over time from its formation to the mature structure.		mondo.json		http://purl.obolibrary.org/obo/GO_0048880		
MONDO:0017929	biolink:Disease	congenital achiasma	Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.	Orphanet:324353|ICD10CM:H47.4|SCTID:734031008	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017929	Orphanet:324353|http://identifiers.org/snomedct/734031008	ordo_morphological_anomaly
MONDO:0017934	biolink:Disease	aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome	Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.	Orphanet:324540|UMLS:CN204076	mondo.json	aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome|aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0017934	UMLS:CN204076|Orphanet:324540	ordo_malformation_syndrome
MONDO:0017935	biolink:Disease	hyperinsulinism due to HNF1A deficiency	Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life.	Orphanet:324575|SCTID:721234004|UMLS:C4303475	mondo.json	hyperinsulinemic hypoglycemia due to HNF1A deficiency	http://purl.obolibrary.org/obo/MONDO_0017935	http://identifiers.org/snomedct/721234004|Orphanet:324575|UMLS:C4303475	ordo_disease
MONDO:0042924	biolink:Disease	Vagneur-Triolle-Ripert syndrome		GARD:0000271	mondo.json	hypertelorism, short midface, arachnodactyly, coloboma of iris and delayed bone age|Vagneur Triolle Ripert syndrome	http://purl.obolibrary.org/obo/MONDO_0042924		gard_rare
UBERON:0000160	biolink:AnatomicalEntity	intestine			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000160		
MONDO:0017936	biolink:Disease	benign Samaritan congenital myopathy	Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.	Orphanet:324581	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017936	Orphanet:324581	ordo_disease
UBERON:0000161	biolink:AnatomicalEntity	orifice			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000161		
UBERON:0000162	biolink:AnatomicalEntity	cloaca			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000162		
MONDO:0017937	biolink:Disease	autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain		Orphanet:324585|UMLS:CN204081	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017937	UMLS:CN204081|Orphanet:324585	ordo_disease
UBERON:0012139	biolink:AnatomicalEntity	segment of autopod			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012139		
MONDO:0017930	biolink:Disease	mixed sclerosing bone dystrophy with extra-skeletal manifestations		Orphanet:324364	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017930	Orphanet:324364	ordo_disease
MONDO:0017931	biolink:Disease	hereditary inclusion body myopathy type 4	Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.	Orphanet:324381|UMLS:CN227223	mondo.json	HIBM4	http://purl.obolibrary.org/obo/MONDO_0017931	Orphanet:324381|UMLS:CN227223	ordo_disease
MONDO:0017932	biolink:Disease	muscular hypertrophy-hepatomegaly-polyhydramnios syndrome		UMLS:CN204070|Orphanet:324416	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017932	Orphanet:324416|UMLS:CN204070	ordo_malformation_syndrome
MONDO:0017933	biolink:Disease	hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.	UMLS:CN204073|Orphanet:324525	mondo.json	hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation	http://purl.obolibrary.org/obo/MONDO_0017933	UMLS:CN204073|Orphanet:324525	ordo_disease
UBERON:0000167	biolink:AnatomicalEntity	oral cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000167		
HGNC:9364	biolink:NamedThing	PRG4			mondo.json		http://identifiers.org/hgnc/9364		
UBERON:0000168	biolink:AnatomicalEntity	proximal-distal subdivision of colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000168		
MONDO:0005938	biolink:Disease	renal tuberculosis	Infection of the kidney due to mycobacteria.	UMLS:C0041328|ICD9:016.0|ICD9:016.00|DOID:9733|EFO:0007463|SCTID:44323002|MESH:D014398|NCIT:C123020	mondo.json	tuberculosis of kidney|kidney tuberculosis	http://purl.obolibrary.org/obo/MONDO_0005938	DOID:9733|NCIT:C123020|http://identifiers.org/snomedct/44323002|http://identifiers.org/mesh/D014398|UMLS:C0041328	
UBERON:0000163	biolink:AnatomicalEntity	embryonic cloaca			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000163		
MONDO:0005937	biolink:Disease	REM sleep behavior disorder	A disorder characterized by episodes of vigorous and often violent motor activity during rem sleep (sleep, rem). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393)	DOID:9091|EFO:0007462|SCTID:415238003|ICD9:327.42|ICD10CM:G47.52|ICD9:780.59|MESH:D020187	mondo.json	rapid eye movement sleep behavior disorder	http://purl.obolibrary.org/obo/MONDO_0005937	http://identifiers.org/snomedct/415238003|http://purl.bioontology.org/ontology/ICD10CM/G47.52|DOID:9091|http://identifiers.org/mesh/D020187	
UBERON:0000164	biolink:AnatomicalEntity	primitive urogenital sinus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000164		
UBERON:0000165	biolink:AnatomicalEntity	mouth			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000165		
MONDO:0005939	biolink:Disease	Reoviridae infectious disease	Infections produced by reoviruses, general or unspecified.	MESH:D012088|EFO:0007464|UMLS:C0035112	mondo.json	infection, Reovirus|infections, Reoviridae|Reoviridae infection|infections, Reovirus|Reovirus infection|Reovirus infections|infection, Reoviridae	http://purl.obolibrary.org/obo/MONDO_0005939	UMLS:C0035112|http://identifiers.org/mesh/D012088	
UBERON:0000166	biolink:AnatomicalEntity	oral opening			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000166		
MONDO:0005956	biolink:Disease	septicemic plague	A plague in which the bacteria have entered the bloodstream.	ICD10CM:A20.7|SCTID:9012003|EFO:0007481|ICD9:020.2|DOID:3481|UMLS:C0152936	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005956	http://identifiers.org/snomedct/9012003|UMLS:C0152936|DOID:3481|http://purl.bioontology.org/ontology/ICD10CM/A20.7	
UBERON:0014790	biolink:AnatomicalEntity	lingual septum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014790		
MONDO:0005955	biolink:Disease	obsolete scrub typhus			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005955		
MONDO:0005958	biolink:Disease	obsolete sex cord-stromal tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005958		
UBERON:0014791	biolink:AnatomicalEntity	musculature of forelimb stylopod			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014791		
MONDO:0005957	biolink:Disease	setariasis	Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness.	DOID:1079|UMLS:C0036850|SCTID:4414005|EFO:0007482|MESH:D012719	mondo.json	infectious disease by Setaria|Setaria <nematode> disease or disorder|Setaria <nematode> infectious disease|Setaria <nematode> caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005957	http://identifiers.org/snomedct/4414005|http://identifiers.org/mesh/D012719|UMLS:C0036850|DOID:1079	
UBERON:0014792	biolink:AnatomicalEntity	musculature of pelvic complex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014792		
MONDO:0005952	biolink:Disease	scarlet fever	A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever.	UMLS:C0036285|ICD10CM:A38|NCIT:C94575|ICD9:034.1|MESH:D012541|EFO:0007477|ICD9:034|SCTID:30242009|DOID:8596	mondo.json	scarlatina	http://purl.obolibrary.org/obo/MONDO_0005952	DOID:8596|http://identifiers.org/snomedct/30242009|NCIT:C94575|http://purl.bioontology.org/ontology/ICD10CM/A38|http://identifiers.org/mesh/D012541|UMLS:C0036285	
NCBITaxon:10368	biolink:OrganismalEntity	Human betaherpesvirus 6		GC_ID:1	mondo.json	herpes simplex virus type 6|HHV-6|Human herpesvirus type 6|human herpesvirus type 6 HHV-6|Herpesvirus type 6|herpesvirus 6 HHV-6|Human herpesvirus 6|human herpesvirus 6 HHV-6|HHV6	http://purl.obolibrary.org/obo/NCBITaxon_10368		
MONDO:0005951	biolink:Disease	obsolete sarcocystosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005951		
MONDO:0005954	biolink:Disease	screw worm infectious disease	Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A.	MESH:D012610|DOID:12927|EFO:0007479	mondo.json	infection, screw worm|infections, screw worm|screw worm infections|Cochliomyia hominivorax disease or disorder|Cochliomyia hominivorax infectious disease|Cochliomyia hominivorax caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005954	http://identifiers.org/mesh/D012610|DOID:12927	
MONDO:0030953	biolink:Disease	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2		OMIM:619184	mondo.json	SSFSC2|short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies|short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2	http://purl.obolibrary.org/obo/MONDO_0030953	https://omim.org/entry/619184	
MONDO:0005953	biolink:Disease	scirrhous adenocarcinoma	An infiltrating adenocarcinoma characterized by the presence of desmoplastic stromal reaction.	MESH:D002293|DOID:4024|EFO:0007478|UMLS:C0007135|ICDO:8141/3|NCIT:C2928	mondo.json	scirrhous adenocarcinoma (morphologic abnormality)|fibrocarcinoma|FIBROADENOCARCINOMA, malignant|scirrhous adenocarcinoma|scirrhous carcinoma|adenocarcinoma with productive fibrosis	http://purl.obolibrary.org/obo/MONDO_0005953	http://identifiers.org/mesh/D002293|DOID:4024|NCIT:C2928|UMLS:C0007135	
GO:1902722	biolink:NamedThing	positive regulation of prolactin secretion	Any process that activates or increases the frequency, rate or extent of prolactin secretion.		mondo.json	upregulation of prolactin secretion|up-regulation of prolactin secretion|up regulation of prolactin secretion|activation of prolactin secretion	http://purl.obolibrary.org/obo/GO_1902722		
CHEBI:37949	biolink:ChemicalSubstance	azacycloalkane			mondo.json	azacycloalkanes	http://purl.obolibrary.org/obo/CHEBI_37949		
CHEBI:50905	biolink:ChemicalSubstance	teratogenic agent	A role played by a chemical compound  in biological systems with adverse consequences in embryo developments, leading to birth defects, embryo death or altered development, growth retardation and functional defect.		mondo.json	agent teratogene|teratogeno|teratogen	http://purl.obolibrary.org/obo/CHEBI_50905		
CHEBI:50904	biolink:ChemicalSubstance	allergen	A chemical compound, or part thereof, which causes the onset of an allergic reaction by interacting with any of the molecular pathways involved in an allergy.		mondo.json	alergeno|allergene|allergenic agent	http://purl.obolibrary.org/obo/CHEBI_50904		
CHEBI:50903	biolink:ChemicalSubstance	carcinogenic agent	A role played by a chemical compound which is known to  induce a process of carcinogenesis  by corrupting  normal cellular pathways, leading to the acquistion of tumoral capabilities.		mondo.json	carcinogene|carcinogenic agents|cancerigene|carcinogens|agente carcinogeno|carcinogeno|carcinogen|cancerogene	http://purl.obolibrary.org/obo/CHEBI_50903		
MONDO:0005950	biolink:Disease	Salmonella gastroenteritis	Poisoning caused by ingestion of food harboring species of salmonella. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply.	MESH:D012478|ICD9:003.0|SCTID:42338000|EFO:0007475	mondo.json	Salmonella caused gastroenteritis	http://purl.obolibrary.org/obo/MONDO_0005950	http://identifiers.org/mesh/D012478|http://identifiers.org/snomedct/42338000	
GO:1902721	biolink:NamedThing	negative regulation of prolactin secretion	Any process that stops, prevents or reduces the frequency, rate or extent of prolactin secretion.		mondo.json	down-regulation of prolactin secretion|down regulation of prolactin secretion|downregulation of prolactin secretion|inhibition of prolactin secretion	http://purl.obolibrary.org/obo/GO_1902721		
CHEBI:50902	biolink:ChemicalSubstance	genotoxin	A role played by a chemical compound to induce direct or indirect DNA damage. Such damage can potentially lead to the formation of a malignant tumour, but DNA damage does not lead inevitably to the creation of cancerous cells.		mondo.json	genotoxic agent|genotoxic agents|genotoxins	http://purl.obolibrary.org/obo/CHEBI_50902		
MONDO:0017916	biolink:Disease	pure or complex X-linked spastic paraplegia		Orphanet:320350	mondo.json	Pure or complicated X-linked spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0017916	Orphanet:320350	ordo_group_of_disorders|disease_grouping
UBERON:0014793	biolink:AnatomicalEntity	musculature of pectoral complex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014793		
MONDO:0017917	biolink:Disease	maternally-inherited spastic paraplegia	A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.	Orphanet:320360	mondo.json	maternally-inherited SPG|MT-ATP6-related mitochondrial spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0017917	Orphanet:320360	ordo_disease
CHEBI:50908	biolink:ChemicalSubstance	hepatotoxic agent	A role played by a chemical compound exihibiting itself through the ability to induce damage to the liver in animals.		mondo.json	agente hepatotoxico|hepatotoxic agents|hepatoxicant|hepatoxic agent|hepatotoxins|hepatotoxicants|hepatotoxin|hepatotoxicant	http://purl.obolibrary.org/obo/CHEBI_50908		
UBERON:0014794	biolink:AnatomicalEntity	pectoral appendage muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014794		
MONDO:0017918	biolink:Disease	white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome	White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, wide spaced eyes (hypertelorism) and a very small chin (micrognathia); failure to thrive; severe intellectual disability ;and lack of muscle tone (hypotonia). Exams of the brain showed a poor development (hypoplasia) of the pale part of the brain known as white matter, and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain). Only a few cases have being described. The cause is unknown but may be related to a disorder of axonal development. The described cases seem to be inherited in an autosomal recessive or X-linked way. Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with intellectual disability, epilepsy, or psychiatric syndromes. It can be part of several genetic syndromes, such as Aicardi syndrome, Andermann syndrome and Apert syndrome, trisomies 13, 18 ; or result from metabolic causes; drugs (cocaine); or viral infection (influenza). Many patients with corpus callosum anomalies have other brain anomalies, including white matter hypoplasia. There is no information on specific treatment for this condition.	MESH:C536701|UMLS:C2931292|GARD:0005560|Orphanet:3207	mondo.json	familial white matter hypoplasia, agenesis of the corpus callosum, intellectual disability and growth deficiency|Curatolo-Cilio-Pessagno syndrome|Curatolo Cilio Pessagno syndrome	http://purl.obolibrary.org/obo/MONDO_0017918	http://identifiers.org/mesh/C536701|UMLS:C2931292|Orphanet:3207	gard_rare|ordo_malformation_syndrome
UBERON:0014795	biolink:AnatomicalEntity	pelvic appendage muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014795		
MONDO:0017919	biolink:Disease	exstrophy-epispadias complex	A spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus.	NCIT:C99142|DOID:0080173|Orphanet:322|OMIM:258040|GARD:0002207|UMLS:C1850321	mondo.json	BEEC|bladder exstrophy-epispadias-cloacal extrophy complex|OEIS syndrome|EEC|OEIS complex	http://purl.obolibrary.org/obo/MONDO_0017919	Orphanet:322|NCIT:C99142|https://omim.org/entry/258040|UMLS:C1850321|DOID:0080173	ordo_malformation_syndrome
UBERON:0014796	biolink:AnatomicalEntity	common tendinous ring			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014796		
CHEBI:50906	biolink:ChemicalSubstance	role	A role is particular behaviour which a material entity may exhibit.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_50906		
MONDO:0017923	biolink:Disease	multiple synostoses syndrome	Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.	OMIMPS:186500|UMLS:CN204052|UMLS:C0175700|Orphanet:3237|DOID:0050794	mondo.json	facio-audio-symphalangism|deafness-Hermann type symphalangism syndrome|WL syndrome|symphalangism-brachydactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0017923	https://omim.org/phenotypicSeries/PS186500|UMLS:CN204052|Orphanet:3237|DOID:0050794	ordo_malformation_syndrome
MONDO:0017924	biolink:Disease	central nervous system calcification-deafness-tubular acidosis-anemia syndrome	This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family.	UMLS:CN204056|Orphanet:3240	mondo.json	Yoshimura-Takeshita syndrome	http://purl.obolibrary.org/obo/MONDO_0017924	UMLS:CN204056|Orphanet:3240	ordo_disease
MONDO:0017925	biolink:Disease	T-cell immunodeficiency with epidermodysplasia verruciformis	T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype.	UMLS:CN714013|Orphanet:324294	mondo.json	T-cell immunodeficiency due to RHOH deficiency	http://purl.obolibrary.org/obo/MONDO_0017925	Orphanet:324294|UMLS:CN714013	ordo_disease
MONDO:0017926	biolink:Disease	multiple paragangliomas associated with polycythemia		Orphanet:324299|UMLS:CN204064	mondo.json	paraganglioma-somatostatinoma-polycythemia syndrome|multiple paragangliomas associated with erythrocytosis	http://purl.obolibrary.org/obo/MONDO_0017926	UMLS:CN204064|Orphanet:324299	ordo_clinical_subtype
MONDO:0017920	biolink:Disease	deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome	Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).	GARD:0004303|Orphanet:3224|MESH:C537887|UMLS:C2931654|SCTID:721086004	mondo.json	sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5|Pfeiffer-Kapferer syndrome|short stature, intellectual disability and multiple dysmorphisms|short stature, mental retardation and multiple dysmorphisms|Pfeiffer Kapferer syndrome	http://purl.obolibrary.org/obo/MONDO_0017920	UMLS:C2931654|Orphanet:3224|http://identifiers.org/snomedct/721086004|http://identifiers.org/mesh/C537887	ordo_malformation_syndrome
MONDO:0017921	biolink:Disease	hearing loss-familial salivary gland insensitivity to aldosterone syndrome	Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive.	SCTID:716239006|MESH:C536927|Orphanet:3225|GARD:0000422	mondo.json	hearing loss insensitivity to aldosterone|hearing loss and familial salivary gland insensitivity to aldosterone|Tunglang savage Bellman syndrome|Tungland-Bellman syndrome	http://purl.obolibrary.org/obo/MONDO_0017921	Orphanet:3225|http://identifiers.org/snomedct/716239006|http://identifiers.org/mesh/C536927	ordo_malformation_syndrome
MONDO:0017922	biolink:Disease	deafness-onychodystrophy syndrome	Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies.	Orphanet:3231|UMLS:CN204041	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017922	UMLS:CN204041|Orphanet:3231	ordo_group_of_disorders|disease_grouping
UBERON:0000158	biolink:AnatomicalEntity	membranous layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000158		
MONDO:0030961	biolink:Disease	Olmsted syndrome 2		OMIM:619208	mondo.json	Olmsted syndrome 2|palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 2|OLMS2	http://purl.obolibrary.org/obo/MONDO_0030961	https://omim.org/entry/619208	
UBERON:0000159	biolink:AnatomicalEntity	anal canal			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000159		
MONDO:0005949	biolink:Disease	roseolovirus infectious disease	Infection with roseolovirus, the most common in humans being exanthema subitum, a benign disease of infants and young children.	UMLS:C0376549|EFO:0007474|MESH:D019349	mondo.json	Roseolovirus infectious disease|Roseolovirus caused disease or disorder|Roseolovirus disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005949	http://identifiers.org/mesh/D019349|UMLS:C0376549	
UBERON:0000153	biolink:AnatomicalEntity	anterior region of body			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000153		
MONDO:0005948	biolink:Disease	obsolete Ritter disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005948		
UBERON:0000154	biolink:AnatomicalEntity	posterior region of body			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000154		
MONDO:0003348	biolink:Disease	conventional leiomyosarcoma	An uncommon, aggressive malignant smooth muscle neoplasm. It is characterized by the presence of atypical large spindle or round cells, nuclear palisading, tumor cell necrosis, mitotic figures and may be associated with vascular invasion.	NCIT:C9428|UMLS:C1333157|DOID:5253	mondo.json	conventional leiomyosarcoma|classic leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003348	DOID:5253|NCIT:C9428|UMLS:C1333157	
MONDO:0003349	biolink:Disease	central nervous system leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the central nervous system. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C6999|DOID:5254|UMLS:C1334385	mondo.json	leiomyosarcoma of the CNS|CNS leiomyosarcoma|leiomyosarcoma of central nervous system|leiomyosarcoma of the central nervous system|leiomyosarcoma of CNS|central nervous system leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003349	DOID:5254|NCIT:C6999|UMLS:C1334385	
NCBITaxon:34384	biolink:OrganismalEntity	Arthrodermataceae		GC_ID:1	mondo.json	dermatophytes|Arthrodermataceae anamorphs|anamorphic Arthrodermataceae	http://purl.obolibrary.org/obo/NCBITaxon_34384		
MONDO:0003344	biolink:Disease	obsolete hemangioblastoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003344		
HGNC:9382	biolink:NamedThing	PRKACG			mondo.json		http://identifiers.org/hgnc/9382		
MONDO:0003345	biolink:Disease	hilar cholangiocarcinoma	A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts.	UMLS:C0206702|DOID:4927|DOID:5246|GARD:0010175|NCIT:C36077|MESH:D018285|SCTID:253017000|EFO:1001005|Orphanet:99978	mondo.json	hilar CC|hilar cholangiocellular carcinoma|hilar cholangiocarcinoma|perihilar cholangiocarcinoma|Klatskin tumor|perihilar extrahepatic bile duct carcinoma|Klatskin's tumor|hilar CCA|hilar portion of hepatic duct cholangiocarcinoma|cholangiocarcinoma of hilar portion of hepatic duct	http://purl.obolibrary.org/obo/MONDO_0003345	Orphanet:99978|DOID:4927|UMLS:C0206702|http://identifiers.org/mesh/D018285|NCIT:C36077|http://identifiers.org/snomedct/253017000	ordo_disease|gard_rare
MONDO:0003346	biolink:Disease	central nervous system vasculitis	Vasculitis affecting the blood vessels of the brain and/or spinal cord.	NCIT:C84622|DOID:525|UMLS:C0751878|MESH:D020293	mondo.json	vasculitis of central nervous system|central nervous system vasculitis	http://purl.obolibrary.org/obo/MONDO_0003346	DOID:525|UMLS:C0751878|http://identifiers.org/mesh/D020293|NCIT:C84622	
HGNC:9380	biolink:NamedThing	PRKACA			mondo.json		http://identifiers.org/hgnc/9380		
MONDO:0003347	biolink:Disease	inflammatory leiomyosarcoma	A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells.	NCIT:C27495|UMLS:C1334179|DOID:5251	mondo.json	inflammatory leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003347	DOID:5251|NCIT:C27495|UMLS:C1334179	
MONDO:0003340	biolink:Disease	malignant glomus tumor	A very rare morphologic variant of glomus tumor with a size greater than 2 cm. The tumor arises in subfascial or visceral tissues. It is characterized by the presence of atypical mitotic figures, or marked nuclear atypia, or the combination of both. It has an aggressive clinical course.	DOID:5233|ONCOTREE:MGST|ICDO:8711/3|ICDO:8710/3|UMLS:C1266111|NCIT:C4221	mondo.json	malignant glomus tumor|malignant glomus neoplasm|glomus tumor, malignant|glomangiosarcoma	http://purl.obolibrary.org/obo/MONDO_0003340	NCIT:C4221|DOID:5233|UMLS:C1266111	
MONDO:0003341	biolink:Disease	subungual glomus tumor	A glomus tumor arising in the finger and usually associated with pain.	ICD9:228.09|DOID:5236|UMLS:C1304510|SCTID:403973004|NCIT:C36079	mondo.json	subungual glomus tumor	http://purl.obolibrary.org/obo/MONDO_0003341	http://identifiers.org/snomedct/403973004|NCIT:C36079|UMLS:C1304510|DOID:5236	
MONDO:0003342	biolink:Disease	benign perivascular tumor	A benign mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels.	DOID:5238|NCIT:C6529|UMLS:C1332532	mondo.json	benign perivascular neoplasm|benign perivascular tumor|benign Pericytic neoplasm|pericytic neoplasm, benign|benign pericytic neoplasm|benign Pericytic tumor	http://purl.obolibrary.org/obo/MONDO_0003342	NCIT:C6529|DOID:5238|UMLS:C1332532	
MONDO:0003343	biolink:Disease	retinal hemangioblastoma	A hemangioblastoma that arises from the retina. It is typically a sign of von Hippel-Lindau disease. It may also be seen as an isolated entity without systemic involvement.	UMLS:C1514915|NCIT:C39783|DOID:5240	mondo.json	retinal hemangioblastoma|vasculature of retina hemangioblastoma|retinal capillary hemangioblastoma|hemangioblastoma of vasculature of retina	http://purl.obolibrary.org/obo/MONDO_0003343	UMLS:C1514915|NCIT:C39783|DOID:5240	
CHEBI:13941	biolink:ChemicalSubstance	carbamate			mondo.json	Karbamat|carbamic acid, ion(1-)|carbamate ion|Carbamat|carbamate	http://purl.obolibrary.org/obo/CHEBI_13941		
MONDO:0015337	biolink:Disease	isolated craniosynostosis	A craniosynostosis that is not part of a larger syndrome.	Orphanet:139390	mondo.json	nonsyndromic craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0015337	Orphanet:139390	disease_grouping|ordo_group_of_disorders
MONDO:0015336	biolink:Disease	obsolete malformation syndrome with odontal and/or periodontal component		Orphanet:139042|UMLS:CN199366	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015336	UMLS:CN199366|Orphanet:139042	ordo_group_of_disorders
MONDO:0015335	biolink:Disease	orofacial clefting syndrome		UMLS:CN199365|Orphanet:139039	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015335	UMLS:CN199365|Orphanet:139039	ordo_group_of_disorders|disease_grouping
MONDO:0015334	biolink:Disease	branchial arch or oral-acral syndrome		UMLS:CN199364|Orphanet:139036	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015334	UMLS:CN199364|Orphanet:139036	ordo_group_of_disorders|disease_grouping
MONDO:0017996	biolink:Disease	obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency		UMLS:CN204202|Orphanet:329255|OMIM:615057	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017996	https://omim.org/entry/615057|UMLS:CN204202|Orphanet:329255	
MONDO:0017997	biolink:Disease	telecanthus-hypertelorism-strabismus-pes cavus syndrome	Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia.	Orphanet:3293|UMLS:CN204205	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017997	UMLS:CN204205|Orphanet:3293	ordo_malformation_syndrome
MONDO:0017998	biolink:Disease	PLA2G6-associated neurodegeneration	Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene.	GARD:0012567|Orphanet:329303	mondo.json	neurodegeneration with brain iron accumulation caused by mutation in PLA2G6|PLA2G6 neurodegeneration with brain iron accumulation|PLAN	http://purl.obolibrary.org/obo/MONDO_0017998	Orphanet:329303	ordo_group_of_disorders|disease_grouping
MONDO:0015339	biolink:Disease	adrenomyeloneuropathy	An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN.	SCTID:65389002|UMLS:C1527231|Orphanet:139399|GARD:0010614	mondo.json	AMN|adrenomyeloneuropathy	http://purl.obolibrary.org/obo/MONDO_0015339	Orphanet:139399|http://identifiers.org/snomedct/65389002|UMLS:C1527231	ordo_clinical_subtype
MONDO:0015338	biolink:Disease	syndromic craniosynostosis	A craniosynostosis that is part of a larger syndrome.	UMLS:CN226660|Orphanet:139393	mondo.json	syndromic craniosynostosis|syndrome associated with craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0015338	UMLS:CN226660|Orphanet:139393	disease_grouping|ordo_group_of_disorders
MONDO:0017999	biolink:Disease	fatty acid hydroxylase-associated neurodegeneration	Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.	Orphanet:329308|MESH:C580102|GARD:0010810	mondo.json	FAHN	http://purl.obolibrary.org/obo/MONDO_0017999	http://identifiers.org/mesh/C580102|Orphanet:329308	ordo_disease
MONDO:0017992	biolink:Disease	autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis		OMIM:615895|UMLS:CN237438|Orphanet:329173	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017992	Orphanet:329173|UMLS:CN237438	ordo_disease
HGNC:9386	biolink:NamedThing	PRKAG2			mondo.json		http://identifiers.org/hgnc/9386		
MONDO:0017993	biolink:Disease	cerebral sinovenous thrombosis	A rare but serious cerebrovascular disorder involving thrombosis of the cerebral venous system. It affects children from the newborn period through childhood and adolescence. In childhood CSVT, acute infections of the head and neck such as mastoiditis are most common, followed by chronic underlying diseases such as nephrotic syndrome, cancer, and inflammatory bowel disease. Signs and symptoms are also age related. Seizures and altered mental status are the commonest manifestations in newborns. Headache, vomiting, and lethargy, sometimes with 6th nerve palsy, are the most common symptoms in children and adolescents.	Orphanet:329217	mondo.json	CSVT	http://purl.obolibrary.org/obo/MONDO_0017993	Orphanet:329217	ordo_disease
MONDO:0017994	biolink:Disease	severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency		UMLS:CN204200|Orphanet:329249	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017994	UMLS:CN204200|Orphanet:329249	ordo_disease
MONDO:0017995	biolink:Disease	spondylocostal dysostosis-hypospadias-intellectual disability syndrome		UMLS:CN204201|Orphanet:329252	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017995	UMLS:CN204201|Orphanet:329252	ordo_disease
MONDO:0015333	biolink:Disease	progeroid syndrome	A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are.	UMLS:CN199363|Orphanet:139033	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015333	UMLS:CN199363|Orphanet:139033	ordo_group_of_disorders|disease_grouping
MONDO:0015332	biolink:Disease	obsolete rare developmental defect with connective tissue involvement		UMLS:CN199362|Orphanet:139030	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015332	UMLS:CN199362|Orphanet:139030	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0017990	biolink:Disease	catecholaminergic polymorphic ventricular tachycardia	Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death.	OMIMPS:604772|Orphanet:3286|GARD:0004421|UMLS:C1631597|ICD10CM:I47.2|DOID:0060674|SCTID:419671004|MESH:C536334	mondo.json	ventricular tachycardia, catecholaminergic polymorphic|syncopal paroxysmal tachycardia|double tachycardia induced by catecholamines|catecholaminergic polymorphic ventricular tachycardia|malignant paroxysmal ventricular tachycardia|stress-induced polymorphic ventricular tachycardia|polymorphic catecholergic ventricular tachycardia|catecholamine-induced polymorphic ventricular tachycardia|CPVT|familial polymorphic ventricular tachycardia|multifocal ventricular premature beats|bidirectional tachycardia induced by catecholamine	http://purl.obolibrary.org/obo/MONDO_0017990	http://identifiers.org/snomedct/419671004|UMLS:C1631597|DOID:0060674|Orphanet:3286|http://identifiers.org/mesh/C536334|https://omim.org/phenotypicSeries/PS604772	ordo_disease|clingen|gard_rare
MONDO:0015331	biolink:Disease	obsolete malformation syndrome with skin/mucosae involvement		UMLS:CN199361|Orphanet:139027	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015331	UMLS:CN199361|Orphanet:139027	ordo_group_of_disorders
HGNC:9388	biolink:NamedThing	PRKAR1A			mondo.json		http://identifiers.org/hgnc/9388		
MONDO:0017991	biolink:Disease	Takayasu arteritis	Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.	MedDRA:10043097|OMIM:207600|NCIT:C35062|DOID:2508|NCIT:C34391|GARD:0007730|EFO:1001857|ICD9:446.7|Orphanet:3287|MESH:D013625|SCTID:239937004|UMLS:C0039263	mondo.json	idiopathic aortitis|pharyngeal arch artery syndromic disease|Takayasu arteritis|Takayasu disease|pulseless disease|aortic arch arteritis|Takayasu's disease|Young female arteritis|TA|aortic Arch syndrome|Takayasu's arteritis	http://purl.obolibrary.org/obo/MONDO_0017991	https://omim.org/entry/207600|DOID:2508|Orphanet:3287|NCIT:C35062|http://identifiers.org/snomedct/239937004|UMLS:C0039263|NCIT:C34391|http://identifiers.org/mesh/D013625	ordo_disease
MONDO:0015330	biolink:Disease	overgrowth/obesity syndrome		UMLS:CN199360|Orphanet:139024	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015330	UMLS:CN199360|Orphanet:139024	ordo_group_of_disorders|disease_grouping
MONDO:0003359	biolink:Disease	myxoid leiomyosarcoma	A morphologic variant of leiomyosarcoma characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma.	NCIT:C3701|UMLS:C0205816|DOID:5268|ICDO:8896/3	mondo.json	myxoid leiomyosarcoma (morphologic abnormality)|myxoid leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003359	UMLS:C0205816|NCIT:C3701|DOID:5268	
NCBITaxon:213115	biolink:OrganismalEntity	Desulfovibrionales		GC_ID:11|PMID:16403855	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_213115		
MONDO:0003355	biolink:Disease	ovary leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells.	UMLS:C1335163|DOID:5263|EFO:0006718|NCIT:C5234	mondo.json	leiomyosarcoma of ovary|ovarian leiomyosarcoma|leiomyosarcoma of the ovary|ovary leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003355	NCIT:C5234|UMLS:C1335163|DOID:5263	
CHEBI:25944	biolink:ChemicalSubstance	pesticide	Strictly, a substance intended to kill pests. In common usage, any substance used for controlling, preventing, or destroying animal, microbiological or plant pests.		mondo.json	Pestizide|Pestizid|pesticide|pesticides	http://purl.obolibrary.org/obo/CHEBI_25944		
MONDO:0003356	biolink:Disease	epithelioid leiomyosarcoma	A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm.	DOID:5264|ICDO:8891/3|NCIT:C3700|UMLS:C0205815	mondo.json	epithelioid leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003356	UMLS:C0205815|NCIT:C3700|DOID:5264	
MONDO:0003357	biolink:Disease	lung leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the lung. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C5667|DOID:5265|UMLS:C1334448	mondo.json	leiomyosarcoma of the lung|pulmonary leiomyosarcoma|lung leiomyosarcoma|leiomyosarcoma of lung	http://purl.obolibrary.org/obo/MONDO_0003357	NCIT:C5667|UMLS:C1334448|DOID:5265	
MONDO:0003358	biolink:Disease	anus leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the anus. It is characterized by a proliferation of neoplastic spindle cells.	UMLS:C1332267|DOID:5267|NCIT:C5599	mondo.json	anal leiomyosarcoma|leiomyosarcoma of the anus|anus leiomyosarcoma|leiomyosarcoma of anus	http://purl.obolibrary.org/obo/MONDO_0003358	NCIT:C5599|UMLS:C1332267|DOID:5267	
UBERON:0012193	biolink:AnatomicalEntity	phrenic vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012193		
MONDO:0003351	biolink:Disease	colon leiomyosarcoma	An aggressive malignant smooth muscle neoplasm that arises from the colon. It is characterized by a proliferation of neoplastic spindle cells.	UMLS:C1333093|NCIT:C5494|DOID:5259	mondo.json	colon leiomyosarcoma|leiomyosarcoma of the colon|leiomyosarcoma of colon|colonic leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003351	NCIT:C5494|UMLS:C1333093|DOID:5259	
MONDO:0003352	biolink:Disease	colon sarcoma	A malignant soft tissue neoplasm that arises from the colon. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma.	NCIT:C5495|UMLS:C1333098|DOID:5260	mondo.json	colon sarcoma|sarcoma of colon|sarcoma of the colon|colonic sarcoma	http://purl.obolibrary.org/obo/MONDO_0003352	NCIT:C5495|UMLS:C1333098|DOID:5260	
MONDO:0003353	biolink:Disease	heart leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the heart. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C5364|DOID:5261|UMLS:C1332848	mondo.json	leiomyosarcoma of heart|heart leiomyosarcoma|leiomyosarcoma of the heart|Cardiac leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003353	NCIT:C5364|DOID:5261|UMLS:C1332848	
GO:1902742	biolink:NamedThing	apoptotic process involved in development	Any apoptotic process that is involved in anatomical structure development.		mondo.json	apoptosis signaling involved in anatomical structure development|programmed cell death by apoptosis involved in development of an anatomical structure|type I programmed cell death involved in development of an anatomical structure|apoptosis involved in development of an anatomical structure|induction of apoptosis involved in development of an anatomical structure|activation of apoptosis involved in development of an anatomical structure|commitment to apoptosis involved in development of an anatomical structure|apoptosis activator activity involved in development of an anatomical structure|type I programmed cell death involved in anatomical structure development|programmed cell death by apoptosis involved in anatomical structure development|apoptosis involved in anatomical structure development|signaling (initiator) caspase activity involved in development of an anatomical structure|apoptosis activator activity involved in anatomical structure development|commitment to apoptosis involved in anatomical structure development|activation of apoptosis involved in anatomical structure development|induction of apoptosis involved in anatomical structure development|apoptotic programmed cell death involved in development of an anatomical structure|apoptotic program involved in development of an anatomical structure|induction of apoptosis by p53 involved in development of an anatomical structure|apoptotic process involved in development of an anatomical structure|apoptotic cell death involved in development of an anatomical structure|signaling (initiator) caspase activity involved in anatomical structure development|apoptotic program involved in anatomical structure development|apoptotic programmed cell death involved in anatomical structure development|induction of apoptosis by p53 involved in anatomical structure development|apoptosis signaling involved in development of an anatomical structure|apoptotic process involved in anatomical structure development|apoptotic cell death involved in anatomical structure development	http://purl.obolibrary.org/obo/GO_1902742		
MONDO:0003354	biolink:Disease	heart sarcoma	A malignant soft tissue neoplasm that arises from the heart. The majority of cases are angiosarcomas.	UMLS:C0238152|DOID:5262|NCIT:C7723	mondo.json	cardiac sarcoma|heart sarcoma|Cardiac sarcoma|sarcoma of heart|sarcoma of the heart	http://purl.obolibrary.org/obo/MONDO_0003354	NCIT:C7723|UMLS:C0238152|DOID:5262	
MONDO:0003350	biolink:Disease	granular cell leiomyosarcoma	An aggressive malignant smooth muscle neoplasm. It is characterized by the presence of malignant smooth muscle cells with granular cytoplasmic changes.	NCIT:C27494|UMLS:C1333871|DOID:5258	mondo.json	granular cell leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003350	NCIT:C27494|DOID:5258|UMLS:C1333871	
MONDO:0015326	biolink:Disease	night blindness-skeletal anomalies-dysmorphism syndrome	This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia).	UMLS:CN199356|GARD:0003994|Orphanet:1390	mondo.json	Hunter Thompson Reed syndrome|Hunter-Thompson-Reed syndrome	http://purl.obolibrary.org/obo/MONDO_0015326	Orphanet:1390|UMLS:CN199356	ordo_malformation_syndrome|gard_rare
MONDO:0017989	biolink:Disease	His bundle tachycardia	His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality.	NCIT:C111646|SCTID:233901002|UMLS:C0039235|MESH:D013613|GARD:0002706|Orphanet:3283|ICD9:427.89	mondo.json	JET|junctional ectopic tachycardia	http://purl.obolibrary.org/obo/MONDO_0017989	http://identifiers.org/mesh/D013613|http://identifiers.org/snomedct/233901002|Orphanet:3283|NCIT:C111646|UMLS:C0039235	ordo_disease|gard_rare
MONDO:0015325	biolink:Disease	cataract-deafness-hypogonadism syndrome	Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.	GARD:0000248|MESH:C536626|SCTID:722378009|Orphanet:1383	mondo.json	Schaap-Taylor-Baraitser syndrome|cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature	http://purl.obolibrary.org/obo/MONDO_0015325	Orphanet:1383|http://identifiers.org/mesh/C536626|http://identifiers.org/snomedct/722378009	ordo_malformation_syndrome|gard_rare
MONDO:0015324	biolink:Disease	cataract-intellectual disability-anal atresia-urinary defects syndrome	Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.	SCTID:715989002|MESH:C537009|Orphanet:1381|GARD:0000192|UMLS:C2931391	mondo.json	Karandikar Maria Kamble syndrome|cataract intellectual disability anal atresia urinary defects|congenital cataract with multiple congenital anomalies in a sibship|Karandikar-Maria-Kamble syndrome|cataract mental retardation anal atresia urinary defects	http://purl.obolibrary.org/obo/MONDO_0015324	Orphanet:1381|http://identifiers.org/snomedct/715989002|UMLS:C2931391|http://identifiers.org/mesh/C537009	ordo_malformation_syndrome|gard_rare
MONDO:0015323	biolink:Disease	teratogenic Pierre Robin syndrome		UMLS:CN199294|Orphanet:138059	mondo.json	teratogenic Pierre Robin sequence	http://purl.obolibrary.org/obo/MONDO_0015323	UMLS:CN199294|Orphanet:138059	disease_grouping|ordo_group_of_disorders
MONDO:0017985	biolink:Disease	congenital radioulnar synostosis	Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.	ICD9:755.53|HP:0002974|SCTID:33313004|GARD:0004630|OMIM:179300|Orphanet:3269|GARD:0010876|MESH:C562408|DOID:9827	mondo.json	radial-ulnar synostosis|radioulnar synostosis, nonsyndromic|radioulnar synostosis (disease)|proximal, smooth fusion of 2-6 CM between the radius and ulna and absent head of the radius|radio-ulnar synostosis type 1|radioulnar synostosis|radioulnar fusion|radio-ulnar synostosis	http://purl.obolibrary.org/obo/MONDO_0017985	http://identifiers.org/snomedct/33313004|http://identifiers.org/mesh/C562408|DOID:9827|Orphanet:3269	ordo_morphological_anomaly|gard_rare
MONDO:0017986	biolink:Disease	disorder of plasmalogens biosynthesis		UMLS:CN237437|Orphanet:3276	mondo.json	disorder of plasmalogens biosynthesis	http://purl.obolibrary.org/obo/MONDO_0017986	UMLS:CN237437|Orphanet:3276	disease_grouping|ordo_group_of_disorders
MONDO:0015329	biolink:Disease	obsolete malformation syndrome with short stature		SCTID:205808005|UMLS:CN199359|Orphanet:139021	mondo.json	congenital malformation syndrome and short stature|congenital malformation syndrome associated with short stature|malformation syndrome associated with short stature	http://purl.obolibrary.org/obo/MONDO_0015329	UMLS:CN199359|http://identifiers.org/snomedct/205808005|Orphanet:139021	ordo_group_of_disorders
MONDO:0017987	biolink:Disease	syringomyelia	Syringomyelia is characterised by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS).	MESH:D013595|GARD:0007725|MedDRA:10042928|DOID:327|UMLS:C0039144|SCTID:111496009|NCIT:C85179|Orphanet:3280	mondo.json	hydromyelia	http://purl.obolibrary.org/obo/MONDO_0017987	http://identifiers.org/mesh/D013595|DOID:327|http://identifiers.org/snomedct/111496009|NCIT:C85179|Orphanet:3280|UMLS:C0039144	disease_grouping|gard_rare|ordo_group_of_disorders
MONDO:0015328	biolink:Disease	obsolete rare bone development disorder	OBSOLETE. Any of the forms of bone development disease that have a rare incidence.	Orphanet:139012|NCIT:C34432	mondo.json	rare skeletal development disorder|rare bone development disease|bone development disorder	http://purl.obolibrary.org/obo/MONDO_0015328	NCIT:C34432|Orphanet:139012	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0015327	biolink:Disease	developmental anomaly of metabolic origin		Orphanet:139009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015327	Orphanet:139009	ordo_group_of_disorders|disease_grouping
MONDO:0017988	biolink:Disease	multifocal atrial tachycardia	Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.	HP:0011701|GARD:0001235|UMLS:C0221158|SCTID:49982000|Orphanet:3282|ICD9:427.89	mondo.json	multifocal atrial tachycardia|multifocal atrial tachycardia (disease)|chaotic atrial tachycardia|MAT	http://purl.obolibrary.org/obo/MONDO_0017988	UMLS:C0221158|http://identifiers.org/snomedct/49982000|Orphanet:3282	ordo_disease
MONDO:0017981	biolink:Disease	syngnathia-cleft palate syndrome		UMLS:CN204137|GARD:0005091|Orphanet:3263	mondo.json	syngnathia cleft palate	http://purl.obolibrary.org/obo/MONDO_0017981	UMLS:CN204137|Orphanet:3263	ordo_malformation_syndrome
MONDO:0017982	biolink:Disease	obsolete humeroradial synostosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017982		
MONDO:0017983	biolink:Disease	humero-radio-ulnar synostosis	Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.	Orphanet:3266	mondo.json	humero-radio-ulnar fusion	http://purl.obolibrary.org/obo/MONDO_0017983	Orphanet:3266	ordo_morphological_anomaly
MONDO:0017984	biolink:Disease	familial lambdoid synostosis	Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.	Orphanet:3267|GARD:0003168|OMIM:600775|UMLS:CN204142|SCTID:766884000	mondo.json	lambdoid synostosis|craniosynostosis, lambdoidal	http://purl.obolibrary.org/obo/MONDO_0017984	UMLS:CN204142|Orphanet:3267|http://identifiers.org/snomedct/766884000	ordo_morphological_anomaly
MONDO:0015322	biolink:Disease	obsolete Pierre Robin syndrome associated with bone disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015322		
MONDO:0015321	biolink:Disease	obsolete Pierre Robin syndrome associated with branchial archs anomalies			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015321		
MONDO:0015320	biolink:Disease	obsolete Pierre Robin syndrome associated with a chromosomal anomaly			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015320		
HGNC:9399	biolink:NamedThing	PRKCD			mondo.json		http://identifiers.org/hgnc/9399		
MONDO:0017980	biolink:Disease	syngnathia multiple anomalies		GARD:0001895|Orphanet:3262|GARD:0005092	mondo.json	syngnathia-multiple anomalies syndrome|dobrow syndrome	http://purl.obolibrary.org/obo/MONDO_0017980	Orphanet:3262	gard_rare|ordo_malformation_syndrome
MONDO:0005989	biolink:Disease	toxoplasmosis	A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii.	DOID:9965|ICD9:130.9|EFO:0007517|ICD9:130|ICD9:130.7|UMLS:C0040558|NCIT:C3418|MESH:D014123|ICD10CM:B58|SCTID:187192000	mondo.json	Toxoplasma gondii disease or disorder|disseminated toxoplasmosis|Toxoplasma gondii infectious disease|Toxoplasma gondii caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005989	NCIT:C3418|http://identifiers.org/snomedct/187192000|http://identifiers.org/mesh/D014123|http://purl.bioontology.org/ontology/ICD10CM/B58|UMLS:C0040558|DOID:9965	
MONDO:0003326	biolink:Disease	intermixed schwannian stroma-rich ganglioneuroblastoma	A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, without the presence of hemorrhagic neuroblastic nodules.	DOID:5194|NCIT:C42057|UMLS:C1517444	mondo.json	ganglioneuroblastoma, intermixed (Schwannian Stroma-rich)|ganglioneuroblastoma, intermixed	http://purl.obolibrary.org/obo/MONDO_0003326	DOID:5194|NCIT:C42057|UMLS:C1517444	
MONDO:0003327	biolink:Disease	peripheral ganglioneuroblastoma	A ganglioneuroblastoma arising from the peripheral nervous system.	DOID:5195|NCIT:C6594|UMLS:C1335387	mondo.json	PNS ganglioneuroblastoma|peripheral nervous system ganglioneuroblastoma|peripheral nervous system ganglioneuroblastoma (disease)|ganglioneuroblastoma (disease) of peripheral nervous system|peripheral ganglioneuroblastoma	http://purl.obolibrary.org/obo/MONDO_0003327	DOID:5195|NCIT:C6594|UMLS:C1335387	
MONDO:0005988	biolink:Disease	toxocariasis	A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections.	MedDRA:10044269|NCIT:C34758|ICD9:128.0|EFO:0007516|MESH:D014120|Orphanet:3343|GARD:0007788|SCTID:406619001|DOID:9790|UMLS:C0040553	mondo.json	Toxocara caused disease or disorder|infection by Toxascaris|visceral larva migrans|Toxocara infection|Toxocara disease or disorder|Toxocara infectious disease	http://purl.obolibrary.org/obo/MONDO_0005988	http://identifiers.org/mesh/D014120|http://identifiers.org/snomedct/406619001|NCIT:C34758|UMLS:C0040553|DOID:9790|Orphanet:3343	ordo_disease
UBERON:0012180	biolink:AnatomicalEntity	head or neck skin			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012180		
MONDO:0030900	biolink:Disease	intellectual developmental disorder with paroxysmal dyskinesia or seizures		OMIM:619150	mondo.json	IDDPADS	http://purl.obolibrary.org/obo/MONDO_0030900	https://omim.org/entry/619150	
MONDO:0003328	biolink:Disease	fallopian tube adenomatoid tumor	A benign neoplasm that arises from the fallopian tube and originates from mesothelial cells. It is characterized by the presence of gland-like structures that are lined by flat or cuboidal cells. It is usually discovered as an incidental finding.	DOID:5196|UMLS:C1517110|NCIT:C40129	mondo.json	fallopian tube adenomatoid tumor	http://purl.obolibrary.org/obo/MONDO_0003328	NCIT:C40129|DOID:5196|UMLS:C1517110	
MONDO:0030903	biolink:Disease	Hermansky-Pudlak syndrome 11		OMIM:619172	mondo.json	HPS11|Hermansky-Pudlak syndrome	http://purl.obolibrary.org/obo/MONDO_0030903	https://omim.org/entry/619172	
MONDO:0030902	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 36		OMIM:619170	mondo.json	MC1DN36|mitochondrial complex I deficiency, nuclear type 36|mitochondrial complex 1 deficiency, nuclear type 36	http://purl.obolibrary.org/obo/MONDO_0030902	https://omim.org/entry/619170	
MONDO:0003329	biolink:Disease	ureteral obstruction	Blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as hydronephrosis and obstructive nephropathy.	ICD9:593.4|HP:0006000|SCTID:20018005|DOID:5199|MESH:D014517	mondo.json	ureteral obstruction|ureteral obstruction (disease)	http://purl.obolibrary.org/obo/MONDO_0003329	http://identifiers.org/mesh/D014517|DOID:5199|http://identifiers.org/snomedct/20018005	
MONDO:0005985	biolink:Disease	Togaviridae infectious disease	Virus diseases caused by the togaviridae.	EFO:0007513|GARD:0007776|MESH:D014036|UMLS:C0040361	mondo.json	Togaviridae disease or disorder|Togaviridae caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005985	UMLS:C0040361|http://identifiers.org/mesh/D014036	
MONDO:0003322	biolink:Disease	epithelial predominant Wilms' tumor	Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes.	UMLS:C0279608|NCIT:C9146|DOID:5189	mondo.json	epithelial predominant renal Wilms' tumor|epithelial predominant kidney Wilms tumor|epithelial predominant renal Wilms tumor|epithelial predominant renal adenosarcoma|epithelial predominant kidney adenosarcoma|epithelial predominant Wilms tumor|epithelial predominant renal Wilm's tumor|epithelial predominant nephroblastoma	http://purl.obolibrary.org/obo/MONDO_0003322	DOID:5189|NCIT:C9146|UMLS:C0279608	
MONDO:0005984	biolink:Disease	tinea pedis	Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum.	ICD9:110.4|DOID:12403|UMLS:C0040259|ICD10CM:B35.3|EFO:0007512|MESH:D014008|SCTID:6020002	mondo.json	pes dermatophytosis|athlete's foot|dermatophytosis of foot|ringworm of foot|dermatophytosis of pes	http://purl.obolibrary.org/obo/MONDO_0005984	http://identifiers.org/snomedct/6020002|UMLS:C0040259|DOID:12403|http://purl.bioontology.org/ontology/ICD10CM/B35.3|http://identifiers.org/mesh/D014008	
MONDO:0003323	biolink:Disease	obsolete MONDO:0003323			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003323		
MONDO:0005987	biolink:Disease	toxascariasis	Infections with nematodes of the genus toxascaris.	UMLS:C0040522|EFO:0007515|DOID:3107|MESH:D017227	mondo.json	Toxascaris disease or disorder|Toxascaris infectious disease|Toxascaris caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005987	DOID:3107|UMLS:C0040522|http://identifiers.org/mesh/D017227	
MONDO:0003324	biolink:Disease	obsolete stromal predominant kidney Wilms' tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003324		
MONDO:0005986	biolink:Disease	torovirus infectious disease	Infections with viruses of the genus torovirus, family coronaviridae.	EFO:0007514|MESH:D018176|UMLS:C0206607	mondo.json	Torovirus infectious disease|Torovirus caused disease or disorder|Torovirus disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005986	UMLS:C0206607|http://identifiers.org/mesh/D018176	
MONDO:0003325	biolink:Disease	nodular ganglioneuroblastoma	A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, and the formation of hemorrhagic neuroblastic nodules.	DOID:5193|UMLS:C1517445|NCIT:C42058	mondo.json	ganglioneuroblastoma, nodular	http://purl.obolibrary.org/obo/MONDO_0003325	DOID:5193|NCIT:C42058|UMLS:C1517445	
MONDO:0030909	biolink:Disease	intellectual disability, X-linked, syndromic, Houge type		Orphanet:442835|UMLS:CN679647|DOID:0080242|OMIM:301008	mondo.json	syndromic X-linked intellectual disability Hough type|intellectual disability, X-linked, syndromic, Houge type|intellectual developmental disorder, X-linked, syndromic, Houge type|MRXSHG|mental retardation, X-linked, syndromic, HOUGE type|mental retardation, X-linked, syndromic, Houge type|intellectual disability, X-linked, syndromic, HOUGE type|syndromic X-linked mental retardation Hough type	http://purl.obolibrary.org/obo/MONDO_0030909	UMLS:CN679647|DOID:0080242|https://omim.org/entry/301008	
MONDO:0005981	biolink:Disease	tick paralysis	Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks.	UMLS:C0040197|DOID:11285|MESH:D013985|SCTID:74225001|GARD:0007771|EFO:0007509	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005981	http://identifiers.org/snomedct/74225001|UMLS:C0040197|http://identifiers.org/mesh/D013985|DOID:11285	gard_rare
MONDO:0005980	biolink:Disease	tick infestation	Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks.	DOID:4109|UMLS:C0040196|MESH:D013984|EFO:0007508	mondo.json	Ixodoidea disease or disorder|Ixodoidea infectious disease|Ixodoidea caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005980	DOID:4109|http://identifiers.org/mesh/D013984|UMLS:C0040196	
MONDO:0030908	biolink:Disease	intellectual disability, X-linked, syndromic, 35		DOID:0080241|Orphanet:435938|Orphanet:459070|OMIM:300998	mondo.json	mental retardation, X-linked, syndromic, 35|MRXS35|intellectual disability, X-linked, syndromic, 35|syndromic X-linked mental retardation 35|syndromic X-linked intellectual disability 35|intellectual developmental disorder, X-linked, syndromic, 35, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0030908	https://omim.org/entry/300998|DOID:0080241	
MONDO:0005983	biolink:Disease	tinea favosa	A severe, chronic fungal skin infection, usually of the scalp, characterized by the development of thick, yellow cup-shaped crusts and scarring over hair follicles.	ICD10CM:B35|DOID:4336|NCIT:C35072|EFO:0007511|MESH:D014007|UMLS:C0040254|SCTID:85375000	mondo.json	favus	http://purl.obolibrary.org/obo/MONDO_0005983	DOID:4336|UMLS:C0040254|http://identifiers.org/snomedct/85375000|http://identifiers.org/mesh/D014007|NCIT:C35072	
MONDO:0003320	biolink:Disease	blastema predominant kidney Wilms tumor	Wilms tumor of the kidney characterized by the predominance of the blastema component.	NCIT:C9147|UMLS:C0279609|DOID:5182	mondo.json	blastema predominant renal Wilm's tumor|blastema predominant Wilms tumor|blastema predominant kidney Wilms' tumor|blastema predominant nephroblastoma|blastema predominant kidney adenosarcoma|blastema predominant renal Wilms' tumor|blastema predominant renal Wilms tumor|blastema predominant kidney Wilms tumor|blastema predominant renal adenosarcoma	http://purl.obolibrary.org/obo/MONDO_0003320	DOID:5182|NCIT:C9147|UMLS:C0279609	
MONDO:0003321	biolink:Disease	hereditary Wilms tumor	Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0)	UMLS:C0677779|OMIMPS:194070|NCIT:C8496|DOID:5183	mondo.json	hereditary Wilms' tumor|hereditary renal adenosarcoma|WT1|hereditary kidney adenosarcoma|familial Wilms tumor|hereditary nephroblastoma|familial Wilms' tumor|hereditary Wilms tumor	http://purl.obolibrary.org/obo/MONDO_0003321	DOID:5183|NCIT:C8496|UMLS:C0677779|https://omim.org/phenotypicSeries/PS194070	
MONDO:0005982	biolink:Disease	tinea infection	A skin infection caused by a fungus.	DOID:12404|EFO:0007510|NCIT:C112181|UMLS:C0040247	mondo.json	Tinea infectious disease|Tinea caused disease or disorder|ringworm|Tinea disease or disorder|Tinea infection|Tinea	http://purl.obolibrary.org/obo/MONDO_0005982	UMLS:C0040247|NCIT:C112181	
MONDO:0015309	biolink:Disease	obsolete Auriculocondylar syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015309		
MONDO:0030905	biolink:Disease	hearing loss, autosomal recessive 117		OMIM:619174	mondo.json	deafness, autosomal recessive 117|DFNB117	http://purl.obolibrary.org/obo/MONDO_0030905	https://omim.org/entry/619174	
MONDO:0030907	biolink:Disease	intellectual disability, X-linked 106		OMIM:300997|DOID:0080240	mondo.json	MRX106|X-linked mental retardation 106|intellectual developmental disorder, X-linked 106, X-linked recessive|X-linked intellectual disability 106|intellectual disability, X-linked 106|mental retardation, X-linked 106	http://purl.obolibrary.org/obo/MONDO_0030907	https://omim.org/entry/300997|DOID:0080240	
MONDO:0030906	biolink:Disease	Trichomonas tenax infectious disease	An disease or disorder caused by infection with Trichomonas tenax.	DOID:0050270	mondo.json	Trichomonas tenax trichomoniasis|Trichomonas tenax caused disease or disorder|Trichomonas tenax disease or disorder	http://purl.obolibrary.org/obo/MONDO_0030906	DOID:0050270	
MONDO:0017978	biolink:Disease	obsolete syndrome with disorder of sex development of gynecological interest		Orphanet:325638|UMLS:CN204125	mondo.json	syndrome with DSD of gynecological interest	http://purl.obolibrary.org/obo/MONDO_0017978	UMLS:CN204125|Orphanet:325638	
MONDO:0015315	biolink:Disease	neonatal brainstem dysfunction	Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported.	UMLS:CN199283|Orphanet:137929	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015315	Orphanet:137929|UMLS:CN199283	ordo_disease
MONDO:0015314	biolink:Disease	primary laryngeal lymphangioma	Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated.	SCTID:763617006|Orphanet:137926	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015314	Orphanet:137926|http://identifiers.org/snomedct/763617006	ordo_malformation_syndrome
MONDO:0017979	biolink:Disease	autoimmune lymphoproliferative syndrome	Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.	UMLS:C1328840|ICD9:279.41|MedDRA:10069521|DOID:6688|Orphanet:3261|MESH:D056735|GARD:0008686|NCIT:C37864|CSP:1560-5548	mondo.json	ALPS|ALPS (autoimmune lymphoproliferative syndrome)|Canale-Smith syndrome|autoimmune lymphoproliferative syndrome type 1, autosomal dominant|FAS deficiency	http://purl.obolibrary.org/obo/MONDO_0017979	NCIT:C37864|http://identifiers.org/mesh/D056735|DOID:6688|UMLS:C1328840|Orphanet:3261	ordo_disease
MONDO:0015313	biolink:Disease	choanal atresia, bilateral	Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth.	Orphanet:137920|UMLS:CN199281	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015313	Orphanet:137920|UMLS:CN199281	ordo_clinical_subtype
MONDO:0015312	biolink:Disease	choanal atresia, unilateral	Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition.	UMLS:CN199280|Orphanet:137917	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015312	Orphanet:137917|UMLS:CN199280	ordo_clinical_subtype
MONDO:0015319	biolink:Disease	obsolete rare disease with Pierre Robin syndrome		UMLS:CN199290|Orphanet:138044	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015319	UMLS:CN199290|Orphanet:138044	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0017974	biolink:Disease	46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors		Orphanet:325537|UMLS:CN227235	mondo.json	46,XY DSD induced by maternal-exposure to endocrine disruptors	http://purl.obolibrary.org/obo/MONDO_0017974	Orphanet:325537|UMLS:CN227235	disease_grouping|ordo_group_of_disorders
MONDO:0015318	biolink:Disease	obsolete Pierre Robin syndrome associated with collagen disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015318		
MONDO:0017975	biolink:Disease	sex chromosome disorder of sex development	Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism.	MESH:D058533|Orphanet:325546	mondo.json	Sex chromosome DSD	http://purl.obolibrary.org/obo/MONDO_0017975	Orphanet:325546|http://identifiers.org/mesh/D058533	ordo_group_of_disorders|disease_grouping
MONDO:0015317	biolink:Disease	laryngotracheal angioma		Orphanet:137935|ICD9:228.09|SCTID:703199001|UMLS:C3839574	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015317	Orphanet:137935|http://identifiers.org/snomedct/703199001|UMLS:C3839574	ordo_disease
MONDO:0017976	biolink:Disease	obsolete disorder of sex development of gynecological interest		UMLS:CN227237|Orphanet:325620	mondo.json	DSD of gynecological interest	http://purl.obolibrary.org/obo/MONDO_0017976	Orphanet:325620|UMLS:CN227237	
MONDO:0015316	biolink:Disease	congenital laryngeal palsy	Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months.	GARD:0012713|Orphanet:137932|UMLS:C0396058	mondo.json	congenital vocal cord paralysis	http://purl.obolibrary.org/obo/MONDO_0015316	Orphanet:137932|UMLS:C0396058	gard_rare|ordo_malformation_syndrome
MONDO:0017977	biolink:Disease	obsolete 46,XY disorder of sex development of gynecological interest		UMLS:CN227238|Orphanet:325632	mondo.json	46,XY DSD of gynecological interest	http://purl.obolibrary.org/obo/MONDO_0017977	Orphanet:325632|UMLS:CN227238	
MONDO:0017970	biolink:Disease	obsolete 46,XY disorder of sex development due to impaired androgen production		Orphanet:325357|UMLS:CN227233	mondo.json	46,XY DSD due to impaired androgen production	http://purl.obolibrary.org/obo/MONDO_0017970	Orphanet:325357|UMLS:CN227233	ordo_group_of_disorders
MONDO:0017971	biolink:Disease	obsolete 46,XY disorder of sex development due to a cholesterol synthesis defect		Orphanet:325511|UMLS:CN227234	mondo.json	46,XY DSD due to a cholesterol synthesis defect	http://purl.obolibrary.org/obo/MONDO_0017971	Orphanet:325511|UMLS:CN227234	ordo_group_of_disorders
MONDO:0017972	biolink:Disease	classic congenital lipoid adrenal hyperplasia due to STAR deficency		Orphanet:325524	mondo.json	classic CLAH	http://purl.obolibrary.org/obo/MONDO_0017972	Orphanet:325524	ordo_clinical_subtype
MONDO:0017973	biolink:Disease	non-classic congenital lipoid adrenal hyperplasia due to STAR deficency		Orphanet:325529	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017973	Orphanet:325529	ordo_clinical_subtype
MONDO:0015311	biolink:Disease	autism-facial port-wine stain syndrome	This syndrome is characterised by the presence of a unilateral angioma on the face and autistic developmental problems characterised by language delay and atypical social interactions.	GARD:0010303|UMLS:CN199278|Orphanet:137911	mondo.json	autism with port-wine stain	http://purl.obolibrary.org/obo/MONDO_0015311	Orphanet:137911|UMLS:CN199278	ordo_malformation_syndrome|gard_rare
MONDO:0003319	biolink:Disease	scrotum neoplasm	A benign or malignant neoplasm that affects the scrotum.	ICD9:187.7|SCTID:126905005|NCIT:C4380|DOID:518|UMLS:C0341790|ICD9:239.5	mondo.json	scrotal neoplasm|malignant tumor of scrotum|scrotal Ca|malignant scrotal neoplasm|malignant tumour of scrotum|scrotal tumor|neoplasm of the scrotum|tumor of scrotum|scrotum neoplasm (disease)|scrotum tumor|tumor of the scrotum|neoplasm of scrotum	http://purl.obolibrary.org/obo/MONDO_0003319	NCIT:C4380|DOID:518|http://identifiers.org/snomedct/126905005|UMLS:C0341790	
MONDO:0015310	biolink:Disease	syndromic optic nerve hypoplasia		UMLS:CN226655|Orphanet:137905	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015310	Orphanet:137905|UMLS:CN226655	disease_grouping|ordo_group_of_disorders
MONDO:0003337	biolink:Disease	acute hemorrhagic encephalitis	Acute encephalitis that is characterized by bleeding.	DOID:5224|UMLS:C1332149|NCIT:C35796	mondo.json	acute hemorrhagic encephalitis	http://purl.obolibrary.org/obo/MONDO_0003337	UMLS:C1332149|DOID:5224|NCIT:C35796	
MONDO:0030912	biolink:Disease	intellectual disability, autosomal dominant 47		UMLS:CN429988|OMIM:617635|Orphanet:502434|DOID:0080238	mondo.json	MRD47|autosomal dominant mental retardation 47|intellectual disability, autosomal dominant 47|mental retardation, autosomal dominant 47|STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome|autosomal dominant intellectual disability 47	http://purl.obolibrary.org/obo/MONDO_0030912	DOID:0080238|Orphanet:502434|https://omim.org/entry/617635|UMLS:CN429988	ordo_malformation_syndrome
MONDO:0005999	biolink:Disease	tuberculous empyema	An empyema resulting from infection by Mycobacterium tuberculosis.	NCIT:C34575|EFO:0007528|DOID:14305|MESH:D004654|UMLS:C0014014|SCTID:14527007	mondo.json	tuberculous empyema (& pleural)	http://purl.obolibrary.org/obo/MONDO_0005999	NCIT:C34575|DOID:14305|http://identifiers.org/snomedct/14527007|http://identifiers.org/mesh/D004654|UMLS:C0014014	
MONDO:0030911	biolink:Disease	intellectual disability, autosomal dominant 46		UMLS:CN371052|OMIM:617601|DOID:0080237	mondo.json	intellectual disability, autosomal dominant 46|MRD46|autosomal dominant mental retardation 46|mental retardation, autosomal dominant 46|autosomal dominant intellectual disability 46	http://purl.obolibrary.org/obo/MONDO_0030911	DOID:0080237|https://omim.org/entry/617601|UMLS:CN371052	
NCBITaxon:34353	biolink:OrganismalEntity	Dipodascaceae		GC_ID:1	mondo.json	anamorphic Dipodascaceae	http://purl.obolibrary.org/obo/NCBITaxon_34353		
MONDO:0003338	biolink:Disease	obsolete von Economo disease			mondo.json	obsolete von Economo's disease	http://purl.obolibrary.org/obo/MONDO_0003338		
MONDO:0030914	biolink:Disease	Clark-Baraitser syndrome		MESH:C536208|DOID:0080234|OMIM:617752|Orphanet:600731|UMLS:C2931130|UMLS:CN593636|GARD:0009994|OMIM:300602	mondo.json	intellectual disability, autosomal dominant 49|mental retardation, tall stature, obesity, macrocephaly and typical facial features|MRD49|autosomal dominant mental retardation 49|intellectual disability, tall stature, obesity, macrocephaly and typical facial features|autosomal dominant intellectual disability 49|Clark-Baraitser syndrome|mental retardation, autosomal dominant 49|Baraitser syndrome	http://purl.obolibrary.org/obo/MONDO_0030914	DOID:0080234|http://identifiers.org/mesh/C536208|https://omim.org/entry/617752|UMLS:C2931130|https://omim.org/entry/300602|UMLS:CN593636|Orphanet:600731	gard_rare
MONDO:0003339	biolink:Disease	obsolete hepatoerythropoietic porphyria			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003339		
MONDO:0030913	biolink:Disease	intellectual disability, autosomal dominant 48		OMIM:617751|UMLS:CN580791|DOID:0080235|Orphanet:500159|EFO:0009156	mondo.json	intellectual disability, autosomal dominant 48|microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom|autosomal dominant mental retardation 48|autosomal dominant intellectual disability 48|MRD48|mental retardation, autosomal dominant 48	http://purl.obolibrary.org/obo/MONDO_0030913	DOID:0080235|https://omim.org/entry/617751|Orphanet:500159|UMLS:CN580791	ordo_malformation_syndrome
MONDO:0005996	biolink:Disease	trichuriasis	An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea.	GARD:0010720|DOID:1252|NCIT:C128399|EFO:0007524|UMLS:C0040954|MESH:D014257|ICD10CM:B79|ICD9:127.3|SCTID:3752003	mondo.json	Trichuris trichiura caused disease or disorder|trichuriasis infection|Trichuris trichiura disease or disorder|infection by Trichuris trichura|whipworm disease|trichocephaliasis|Trichuris trichiura infection|Trichuris trichiura infectious disease|whipworm infection	http://purl.obolibrary.org/obo/MONDO_0005996	NCIT:C128399|http://purl.bioontology.org/ontology/ICD10CM/B79|http://identifiers.org/snomedct/3752003|DOID:1252|UMLS:C0040954|http://identifiers.org/mesh/D014257	gard_rare
MONDO:0003333	biolink:Disease	benign struma ovarii	A mature monodermal teratoma that arises from the ovary and is characterized by the presence of benign, thyroid-type tissues.	NCIT:C40012|DOID:5209|UMLS:C1511104	mondo.json	struma ovarii, benign|benign struma ovarii	http://purl.obolibrary.org/obo/MONDO_0003333	DOID:5209|UMLS:C1511104|NCIT:C40012	
MONDO:0005995	biolink:Disease	trichostrongylosis	Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin.	DOID:1254|EFO:0007523|ICD9:127.6|UMLS:C0040948|SCTID:33710003|ICD10CM:B81.2|MESH:D014253	mondo.json	infection by Trichostrongylus|Trichostrongylus disease or disorder|Trichostrongylus infectious disease|Trichostrongyliasis|Trichostrongylus caused disease or disorder|infection by Trichostrongylus species	http://purl.obolibrary.org/obo/MONDO_0005995	http://identifiers.org/snomedct/33710003|DOID:1254|UMLS:C0040948|http://identifiers.org/mesh/D014253|http://purl.bioontology.org/ontology/ICD10CM/B81.2	
MONDO:0003334	biolink:Disease	demyelinating polyneuropathy	Polyneuropathy that is characterized by demyelination of axons.	DOID:5214|NCIT:C27062|ICD9:356.9|SCTID:23414001|UMLS:C0270922	mondo.json	peripheral demyelinating neuropathy	http://purl.obolibrary.org/obo/MONDO_0003334	DOID:5214|UMLS:C0270922|http://identifiers.org/snomedct/23414001|NCIT:C27062	
MONDO:0030910	biolink:Disease	intellectual disability, autosomal dominant 45		DOID:0080236|UMLS:CN368509|OMIM:617600	mondo.json	intellectual disability, autosomal dominant 45|MRD45|autosomal dominant mental retardation 45|mental retardation, autosomal dominant 45|autosomal dominant intellectual disability 45	http://purl.obolibrary.org/obo/MONDO_0030910	DOID:0080236|https://omim.org/entry/617600|UMLS:CN368509	
MONDO:0003335	biolink:Disease	chronic polyneuropathy	Polyneuropathy that is persistent or long-standing in nature.	UMLS:C1167650|DOID:5221|NCIT:C36071	mondo.json	polyneuropathy, chronic	http://purl.obolibrary.org/obo/MONDO_0003335	DOID:5221|UMLS:C1167650|NCIT:C36071	
MONDO:0005998	biolink:Disease	trombiculiasis	Infestation with mites of the genus Trombiculidae, whose larvae carry the rickettsial agent of scrub typhus.	EFO:0007526|MESH:D014323|DOID:8399|UMLS:C0041170	mondo.json	Trombiculidae disease or disorder|Trombiculidae infectious disease|Trombiculidae caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005998	UMLS:C0041170|DOID:8399|http://identifiers.org/mesh/D014323	
UBERON:0012172	biolink:AnatomicalEntity	stomach primordium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012172		
MONDO:0003336	biolink:Disease	acute necrotizing encephalitis	A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, seizures, and coma. It may follow a viral illness or mycoplasma pneumoniae infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5)	NCIT:C35383|GARD:0013233|DOID:5222|ICD9:049.8|SCTID:111897007|UMLS:C0338418|MESH:D004684	mondo.json	acute necrotizing encephalopathy|ANE|acute necrotizing encephalitis	http://purl.obolibrary.org/obo/MONDO_0003336	NCIT:C35383|DOID:5222|UMLS:C0338418|http://identifiers.org/snomedct/111897007	gard_rare
MONDO:0005997	biolink:Disease	tricuspid valve stenosis	Narrowing or stricture of the tricuspid orifice of the heart.	HP:0010446|DOID:4078|EFO:0007525|UMLS:C0040963|MESH:D014264|SCTID:49915006	mondo.json	tricuspid stenosis	http://purl.obolibrary.org/obo/MONDO_0005997	DOID:4078|http://identifiers.org/snomedct/49915006|UMLS:C0040963|http://identifiers.org/mesh/D014264	
MONDO:0005992	biolink:Disease	obsolete trichinosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005992		
MONDO:0030919	biolink:Disease	intellectual disability, autosomal dominant 53		DOID:0080228|EFO:0009165|OMIM:617798	mondo.json	MRD53|mental retardation, autosomal dominant 53|autosomal dominant intellectual disability 53|intellectual disability, autosomal dominant 53|autosomal dominant mental retardation 53	http://purl.obolibrary.org/obo/MONDO_0030919	DOID:0080228|https://omim.org/entry/617798	
MONDO:0005991	biolink:Disease	trench fever	An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse.	ICD9:083.1|MedDRA:10044582|SCTID:82214002|Orphanet:64694|UMLS:C0040830|ICD10CM:A79.0|EFO:0007519|MESH:D014205|DOID:11101	mondo.json	quintan fever|trench fever|Bartonella quintana infectious disease|Bartonella quintana caused disease or disorder|bartonellosis due to Bartonella quintana infection|Bartonella quintana disease or disorder|fever, trench|trench fevers|Wolhynian fever|shin bone fever|tibialgic fever|His-Werner disease|fevers, trench	http://purl.obolibrary.org/obo/MONDO_0005991	DOID:11101|UMLS:C0040830|Orphanet:64694|http://identifiers.org/mesh/D014205|http://purl.bioontology.org/ontology/ICD10CM/A79.0|http://identifiers.org/snomedct/82214002	ordo_disease
UBERON:0012177	biolink:AnatomicalEntity	skin apocrine gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012177		
MONDO:0003330	biolink:Disease	urinary tract obstruction	Blockage of the normal flow of contents of the urinary tract.	SCTID:7163005|DOID:5200|ICD9:599.6|ICD9:599.60|UMLS:C0178879|NCIT:C3675	mondo.json	urinary obstruction|obstructive uropathy	http://purl.obolibrary.org/obo/MONDO_0003330	http://identifiers.org/snomedct/7163005|UMLS:C0178879|NCIT:C3675|DOID:5200	
MONDO:0003331	biolink:Disease	ovarian monodermal teratoma	A teratoma that arises from the ovary and is characterized by the presence of tissues derived exclusively from one embryonic germ cell layer.	DOID:5207|NCIT:C7286|UMLS:C1302569	mondo.json	monodermal teratoma|ovarian monodermal teratoma|monodermal teratoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003331	UMLS:C1302569|NCIT:C7286|DOID:5207	
MONDO:0005994	biolink:Disease	trichostrongyloidiasis	Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus.	DOID:1255|MESH:D014252|EFO:0007522|UMLS:C0040947	mondo.json	Trichostrongyloidea infectious disease|Trichostrongyloidea caused disease or disorder|Trichostrongyloidea disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005994	DOID:1255|UMLS:C0040947|http://identifiers.org/mesh/D014252	
MONDO:0005993	biolink:Disease	Trichomonas vaginitis urogenital infection	A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse.	NCIT:C35083|DOID:0050269|ICD9:131.00|EFO:0007521|ICD10CM:A59.0|SCTID:35089004|ICD9:131.09|MESH:D014247	mondo.json	urogenital trichomoniasis|urogenital Trichomonas|Trichomonas vaginalis trichomoniasis|Trichomonas vaginalis caused disease of genitourinary system|Trichomonas vaginitis|Trichomonas vaginalis disease of genitourinary system|urogenital infection by Trichomonas vaginalis|urogenital infection caused by Trichomonas vaginalis	http://purl.obolibrary.org/obo/MONDO_0005993	DOID:0050269|http://purl.bioontology.org/ontology/ICD10CM/A59.0|http://identifiers.org/snomedct/35089004|http://identifiers.org/mesh/D014247|NCIT:C35083	
MONDO:0003332	biolink:Disease	malignant struma ovarii	An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue with morphologic changes identical to thyroid carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or with Meigs syndrome (ascites and pleural effusion).	NCIT:C4291|ICDO:9090/3|UMLS:C0334525|DOID:5208	mondo.json	struma ovarii, malignant (morphologic abnormality)|struma ovarii, malignant	http://purl.obolibrary.org/obo/MONDO_0003332	DOID:5208|NCIT:C4291|UMLS:C0334525	
UBERON:0012175	biolink:AnatomicalEntity	acoustico-facial VII-VIII ganglion complex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0012175		
MONDO:0030916	biolink:Disease	intellectual disability, autosomal dominant 50		UMLS:CN671930|OMIM:617787|DOID:0080233	mondo.json	MRD50|mental retardation, autosomal dominant 50|autosomal dominant intellectual disability 50|autosomal dominant mental retardation 50|intellectual disability, autosomal dominant 50|intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities	http://purl.obolibrary.org/obo/MONDO_0030916	UMLS:CN671930|DOID:0080233|https://omim.org/entry/617787	
MONDO:0030915	biolink:Disease	intellectual disability, autosomal recessive 61	An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13.	OMIM:617773|UMLS:CN651335|DOID:0080239	mondo.json	autosomal recessive mental retardation 61|mental retardation, autosomal recessive 61|MRT61|autosomal recessive intellectual disability 61|intellectual disability, autosomal recessive 61|Alwadei syndrome	http://purl.obolibrary.org/obo/MONDO_0030915	DOID:0080239|UMLS:CN651335|https://omim.org/entry/617773	
MONDO:0005990	biolink:Disease	tracheitis	A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions.	UMLS:C0040584|NCIT:C78643|MESH:D014136|ICD10CM:J04.1|UMLS:C0149513|DOID:9392|UMLS:C0264322|ICD9:464.1|SCTID:62994001|EFO:0007518	mondo.json	tracheal Inflammation|acute tracheitis|chronic tracheitis|tracheal mucosa inflammation|inflammation of tracheal mucosa	http://purl.obolibrary.org/obo/MONDO_0005990	UMLS:C0264322|UMLS:C0040584|http://purl.bioontology.org/ontology/ICD10CM/J04.1|DOID:9392|UMLS:C0149513|http://identifiers.org/snomedct/62994001|NCIT:C78643|http://identifiers.org/mesh/D014136	
MONDO:0030918	biolink:Disease	intellectual disability, autosomal dominant 52		EFO:0009152|OMIM:617796|DOID:0080231|UMLS:CN671932	mondo.json	MRD52|mental retardation, autosomal dominant 52|autosomal dominant mental retardation 52|intellectual disability, autosomal dominant 52|autosomal dominant intellectual disability 52	http://purl.obolibrary.org/obo/MONDO_0030918	UMLS:CN671932|DOID:0080231|https://omim.org/entry/617796	
NCBITaxon:201174	biolink:OrganismalEntity	Actinobacteria		GC_ID:11|PMID:29458499|PMID:16280504|PMID:26654112|PMID:11837318	mondo.json	Actinobacteriota|Actinobacteraeota|actinobacteria	http://purl.obolibrary.org/obo/NCBITaxon_201174		
MONDO:0030917	biolink:Disease	intellectual disability, autosomal dominant 51		OMIM:617788|DOID:0080232|UMLS:CN671931	mondo.json	MRD51|autosomal dominant intellectual disability 51|mental retardation, autosomal dominant 51|autosomal dominant mental retardation 51|intellectual disability, autosomal dominant 51	http://purl.obolibrary.org/obo/MONDO_0030917	UMLS:CN671931|DOID:0080232|https://omim.org/entry/617788	
MONDO:0015304	biolink:Disease	arachnoiditis	Arachnoiditis (ARC) is a chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems.	Orphanet:137817|UMLS:C0270617|UMLS:C0003708|GARD:0005839|NCIT:C37913|SCTID:13980006|MESH:D001100|MedDRA:10003074|DOID:12156	mondo.json	inflammation of arachnoid mater|chronic arachnoiditis|adhesive arachnoiditis|arachnoid mater inflammation	http://purl.obolibrary.org/obo/MONDO_0015304	NCIT:C37913|UMLS:C0003708|http://identifiers.org/mesh/D001100|Orphanet:137817|UMLS:C0270617|DOID:12156|http://identifiers.org/snomedct/13980006	ordo_disease
MONDO:0017967	biolink:Disease	testicular agenesis		SCTID:371015003|Orphanet:325124|GARD:0005819	mondo.json	absence of testes|bilateral anorchia|anorchia|empty scrotum|congenital absence of testes	http://purl.obolibrary.org/obo/MONDO_0017967	http://identifiers.org/snomedct/371015003|Orphanet:325124	ordo_morphological_anomaly
MONDO:0015303	biolink:Disease	macular amyloidosis	Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis.	ICD10EXP:E85.4+|Orphanet:137814|ICD10EXP:L99.0*|UMLS:C0544839	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015303	UMLS:C0544839|Orphanet:137814	ordo_disease
MONDO:0017968	biolink:Disease	46,XY ovotesticular disorder of sex development	46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated.	SCTID:763683004|Orphanet:325345|UMLS:CN227231	mondo.json	46,XY ovotesticular DSD	http://purl.obolibrary.org/obo/MONDO_0017968	UMLS:CN227231|http://identifiers.org/snomedct/763683004|Orphanet:325345	ordo_disease
MONDO:0015302	biolink:Disease	nodular cutaneous amyloidosis	Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome.	MedDRA:10056953|Orphanet:137810|GARD:0010562|ICD10EXP:E85.4+|UMLS:C0546394|UMLS:C4274331|SCTID:716704007|ICD10EXP:L99.0*	mondo.json	primary localized cutaneous nodular amyloidosis|amyloidosis nodular localized cutaneous|NLCA|PLCNA|amyloidosis cutis nodularis atrophicans	http://purl.obolibrary.org/obo/MONDO_0015302	UMLS:C4274331|http://identifiers.org/snomedct/716704007|Orphanet:137810|UMLS:C0546394	ordo_disease|gard_rare
MONDO:0017969	biolink:Disease	46,XY disorder of sex development of endocrine origin		Orphanet:325351|UMLS:CN227232	mondo.json	46,XY DSD of endocrine origin	http://purl.obolibrary.org/obo/MONDO_0017969	UMLS:CN227232|Orphanet:325351	disease_grouping|ordo_group_of_disorders
MONDO:0015301	biolink:Disease	primary cutaneous amyloidosis	Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis.	ICD10EXP:E85.4+|Orphanet:137807|MESH:C562642|UMLS:C0268397|ICD10EXP:L99.0*|GARD:0000132|SCTID:282834007|MedDRA:10011659|DOID:0050639	mondo.json	primary localized cutaneous amyloidosis|amyloidosis IX|amyloidosis familial cutaneous lichen|amyloidosis, primary localized cutaneous|lichen amyloidosis familial|familial primary localized cutaneous amyloidosis|PLCA	http://purl.obolibrary.org/obo/MONDO_0015301	Orphanet:137807|DOID:0050639|http://identifiers.org/mesh/C562642|UMLS:C0268397|http://identifiers.org/snomedct/282834007	gard_rare|disease_grouping|ordo_group_of_disorders
MONDO:0015308	biolink:Disease	laminopathy type Decaudain-Vigouroux	Laminopathy, type Decaudain-Vigouroux is characterised by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness.	UMLS:C4518324|SCTID:724205009|Orphanet:137871	mondo.json	laminopathy with severe metabolic syndrome and myopathy	http://purl.obolibrary.org/obo/MONDO_0015308	UMLS:C4518324|http://identifiers.org/snomedct/724205009|Orphanet:137871	ordo_disease
MONDO:0017963	biolink:Disease	46,XX disorder of sex development induced by endogenous maternal-derived androgen		Orphanet:325093|UMLS:CN227227	mondo.json	46,XX DSD induced by endogenous maternal-derived androgen	http://purl.obolibrary.org/obo/MONDO_0017963	Orphanet:325093|UMLS:CN227227	disease_grouping|ordo_group_of_disorders
MONDO:0015307	biolink:Disease	Madras motor neuron disease	Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss.	UMLS:C0393551|GARD:0010742|Orphanet:137867	mondo.json	MMND	http://purl.obolibrary.org/obo/MONDO_0015307	UMLS:C0393551|Orphanet:137867	ordo_disease
MONDO:0017964	biolink:Disease	46,XX disorder of sex development induced by exogenous maternal-derived androgen		UMLS:CN227228|Orphanet:325099	mondo.json	46,XX DSD induced by exogenous maternal-derived androgen	http://purl.obolibrary.org/obo/MONDO_0017964	Orphanet:325099|UMLS:CN227228	disease_grouping|ordo_group_of_disorders
MONDO:0015306	biolink:Disease	Lemierre syndrome	Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis.	Orphanet:137839|SCTID:52542005|MESH:D057831|MedDRA:10065552|DOID:11337|ICD9:040.3|GARD:0006882	mondo.json	Lemierre postanginal sepsis|postanginal sepsis|acute sore throat|postanginal sepsis secondary to orophyngeal infection|Lemierre syndrome|septic phlebitis of the internal jugular vein|necrobacillosis|Lemierre's syndrome|oropharyngeal infection leading to secondary septic thrombophlebitis of the internal jugular vein|human necrobacillosis	http://purl.obolibrary.org/obo/MONDO_0015306	http://identifiers.org/mesh/D057831|Orphanet:137839|DOID:11337|http://identifiers.org/snomedct/52542005	gard_rare|ordo_disease
MONDO:0017965	biolink:Disease	obsolete syndrome with 46,XX disorder of sex development		Orphanet:325109|UMLS:CN204115	mondo.json	syndrome with 46,XX DSD	http://purl.obolibrary.org/obo/MONDO_0017965	Orphanet:325109|UMLS:CN204115	ordo_group_of_disorders
MONDO:0017966	biolink:Disease	46,XY disorder of gonadal development		UMLS:CN227229|Orphanet:325118	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017966	UMLS:CN227229|Orphanet:325118	ordo_group_of_disorders|disease_grouping
MONDO:0015305	biolink:Disease	obsolete rare endometriosis	OBSOLETE. Rare endometriosis.	SCTID:237117005|ICD10CM:N80.6|ICD10CM:N80.5|ICD10CM:N80.4|ICD10CM:N80.3|Orphanet:137820|ICD10CM:N80.1|ICD10CM:N80.0|UMLS:C0404545	mondo.json	endometriosis outside pelvis|rare endometriosis|extrapelvic endometriosis|rare endometriosis (disease)	http://purl.obolibrary.org/obo/MONDO_0015305	Orphanet:137820|http://identifiers.org/snomedct/237117005|UMLS:C0404545	ordo_disease|obsoletion_candidate
MONDO:0017960	biolink:Disease	obsolete CANDLE syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017960		
MONDO:0017961	biolink:Disease	46,XX disorder of gonadal development		UMLS:CN227225|Orphanet:325055	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017961	Orphanet:325055|UMLS:CN227225	disease_grouping|ordo_group_of_disorders
GO:0071214	biolink:NamedThing	cellular response to abiotic stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (non-living) stimulus.		mondo.json	cellular response to abiotic stress	http://purl.obolibrary.org/obo/GO_0071214		
MONDO:0017962	biolink:Disease	46,XX disorder of sex development induced by fetoplacental androgens excess		Orphanet:325061|UMLS:CN227226	mondo.json	46,XX DSD induced by fetoplacental androgens excess	http://purl.obolibrary.org/obo/MONDO_0017962	Orphanet:325061|UMLS:CN227226	disease_grouping|ordo_group_of_disorders
MONDO:0015300	biolink:Disease	cataract - microcornea syndrome	Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.	OMIM:115700|OMIM:601547|OMIM:604219|Orphanet:1377|GARD:0001155|MESH:C538287	mondo.json	cataract microcornea syndrome|microcornea cataract syndrome	http://purl.obolibrary.org/obo/MONDO_0015300	http://identifiers.org/mesh/C538287|Orphanet:1377	gard_rare|ordo_malformation_syndrome
UBERON:0000199	biolink:AnatomicalEntity	neck of radius			mondo.json		http://purl.obolibrary.org/obo/UBERON_0000199		
OBO:ECTO_0000509	biolink:NamedThing	exposure to drug	An exposure to drug.		mondo.json	exposure to drug	http://purl.obolibrary.org/obo/ECTO_0000509		
GO:0009410	biolink:NamedThing	response to xenobiotic stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.		mondo.json	drug susceptibility/resistance|drug resistance|response to drug	http://purl.obolibrary.org/obo/GO_0009410		
GO:0009411	biolink:NamedThing	response to UV	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers.		mondo.json	response to ultraviolet light stimulus|response to UV light stimulus|response to ultraviolet radiation stimulus|response to UV radiation stimulus	http://purl.obolibrary.org/obo/GO_0009411		
UBERON:0002401	biolink:AnatomicalEntity	visceral pleura			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002401		
UBERON:0002400	biolink:AnatomicalEntity	parietal pleura			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002400		
GO:0009416	biolink:NamedThing	response to light stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light.		mondo.json		http://purl.obolibrary.org/obo/GO_0009416		
UBERON:0002402	biolink:AnatomicalEntity	pleural cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002402		
OBO:ECTO_0000515	biolink:NamedThing	exposure to herbicide	An exposure to herbicide.		mondo.json	exposure to herbicide	http://purl.obolibrary.org/obo/ECTO_0000515		
OBO:ECTO_0000516	biolink:NamedThing	exposure to hormone	An exposure to hormone.		mondo.json	exposure to hormone	http://purl.obolibrary.org/obo/ECTO_0000516		
OBO:ECTO_0000522	biolink:NamedThing	exposure to mitochondrial respiratory-chain inhibitor	An exposure to mitochondrial respiratory-chain inhibitor.		mondo.json	exposure to mitochondrial respiratory-chain inhibitor	http://purl.obolibrary.org/obo/ECTO_0000522		
CHEBI:60242	biolink:ChemicalSubstance	monovalent inorganic cation	An atom or small molecule with a positive charge that does not contain carbon in covalent linkage, with a valency of one.		mondo.json	a monovalent cation	http://purl.obolibrary.org/obo/CHEBI_60242		
CHEBI:35238	biolink:ChemicalSubstance	amino acid zwitterion	The zwitterionic form of an amino acid having a negatively charged carboxyl group and a positively charged amino group.		mondo.json	amino acid zwitterion	http://purl.obolibrary.org/obo/CHEBI_35238		
CL:0002081	biolink:Cell	type II cell of carotid body	This cell resembles a glia cell, express the glial marker S100 and act as a supporting cell to type I cell. This cell is located in a small cluster of type I and type II cells near the fork of the carotid artery.	FMA:84187	mondo.json	sheath cell of carotid body	http://purl.obolibrary.org/obo/CL_0002081		
CL:0002080	biolink:Cell	pancreatic centro-acinar cell	A cubodial epithelial cell that is continuous with the lining of intercalated ducts that drain the acinus. This cell type secretes a high pH solution to aid in activation of zymogens, and can differentiate into endocrine and exocrine pancreatic cell types.	FMA:62455	mondo.json	pancreatic centroacinar cell|centroacinar cell of Langerhans	http://purl.obolibrary.org/obo/CL_0002080		
CL:0002083	biolink:Cell	type I cell of adrenal medulla	A chromaffin cell of the adrenal medulla that produces norepinephrine.	FMA:69321	mondo.json	noradrenergic chromaffin cell	http://purl.obolibrary.org/obo/CL_0002083		
CL:0002082	biolink:Cell	type II cell of adrenal medulla	A chromaffin cell of the adrenal medulla that produces epinephrine.	FMA:69322	mondo.json	epiniphrine secreting cell of the adrenal medulla|adrenal secreting cell of the adrenal medulla|adremergic chromaffin cell	http://purl.obolibrary.org/obo/CL_0002082		
CHEBI:35230	biolink:ChemicalSubstance	fossil fuel	A fuel such as coal, oil and natural gas which has formed over many years through the decomposition of deposited vegetation which was under extreme pressure of an overburden of earth.		mondo.json	fossil fuel	http://purl.obolibrary.org/obo/CHEBI_35230		
CL:0002087	biolink:Cell	nongranular leukocyte	A leukocyte that lacks granules.	FMA:62855	mondo.json	agranular leukocyte	http://purl.obolibrary.org/obo/CL_0002087		
CL:0002086	biolink:Cell	specialized cardiac myocyte	A cardiac myocyte that is an excitable cells in the myocardium, specifically in the conducting system of heart.	FMA:67968	mondo.json		http://purl.obolibrary.org/obo/CL_0002086		
CL:0002092	biolink:Cell	bone marrow cell	A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells.	FMA:83621|BTO:0004850	mondo.json		http://purl.obolibrary.org/obo/CL_0002092		
CHEBI:50860	biolink:ChemicalSubstance	organic molecular entity	Any molecular entity that contains carbon.		mondo.json	organic entity|organic molecular entities|organic compounds	http://purl.obolibrary.org/obo/CHEBI_50860		
CL:0002095	biolink:Cell	hilus cell of ovary	A cell in the hilum of the ovary that produces androgens.	FMA:18710	mondo.json	hilar cell of ovary	http://purl.obolibrary.org/obo/CL_0002095		
CL:0002097	biolink:Cell	cortical cell of adrenal gland	A cell of the adrenal cortex. Cell types include those that synthesize and secrete chemical derivatives (steroids) of cholesterol.	FMA:69545	mondo.json	adrenocortical cell|adrenal cortex cell	http://purl.obolibrary.org/obo/CL_0002097		
MONDO:0005802	biolink:Disease	hymenolepiasis	A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability.	Orphanet:401|DOID:10074|ICD10CM:B71.0|NCIT:C84768|MedDRA:10020546|MESH:D006925|UMLS:C0277045|EFO:0007317|GARD:0002787|SCTID:44917000|UMLS:C0020413|ICD9:123.6	mondo.json	Hymenolepsis infection|hymenolepiasis|Hymenolepis infectious disease|dwarf tapeworm infection	http://purl.obolibrary.org/obo/MONDO_0005802	http://identifiers.org/snomedct/44917000|DOID:10074|http://identifiers.org/mesh/D006925|NCIT:C84768|UMLS:C0020413|UMLS:C0277045|http://purl.bioontology.org/ontology/ICD10CM/B71.0|Orphanet:401	ordo_disease|gard_rare
MONDO:0005801	biolink:Disease	human T-lymphotropic virus 1 infectious disease	A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder.	GARD:0009645|UMLS:C0020097|EFO:0007316|MESH:D015490	mondo.json	Human T lymphotropic virus type 1|human T-lymphotropic virus 1 infectious disease|Human T-lymphotropic virus 1 infectious disease|Human T-lymphotropic virus 1 caused disease or disorder|HTLV-1|Human T-lymphotropic virus 1 disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005801	UMLS:C0020097|http://identifiers.org/mesh/D015490	gard_rare
MONDO:0005804	biolink:Disease	hyperprolactinemia	Abnormally high level of prolactin in the blood.	ICD9:253.1|UMLS:C0020514|ICD10CM:E22.1|HP:0000870|SCTID:237662005|DOID:12700|MESH:D006966|EFO:0007319	mondo.json	hyperprolactinaemia|syndrome, prolactin hypersecretion|hyperprolactinemias|inappropriate secretion prolactin|inappropriate prolactin secretion|hyperprolactinemia|secretion prolactin, inappropriate|prolactin secretion, inappropriate|prolactin, inappropriate secretion|hyperprolactinemia (disease)|secretion, inappropriate prolactin|hypersecretion syndrome, prolactin|inappropriate prolactin secretion syndrome|prolactin hypersecretion syndrome	http://purl.obolibrary.org/obo/MONDO_0005804	http://identifiers.org/mesh/D006966|http://purl.bioontology.org/ontology/ICD10CM/E22.1|UMLS:C0020514|http://identifiers.org/snomedct/237662005	
MONDO:0005803	biolink:Disease	hyperinsulinemic hypoglycemia	An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11.	SCTID:42681006|OMIMPS:256450|NCIT:C4375|Orphanet:443095|DOID:13317|HP:0000825|EFO:0007318	mondo.json	hyperinsulinemic hypoglycemia (disease)|nesidioblastosis|islet cell hyperplasia|persistent hyperinsulinemia hypoglycemia of infancy|hyperinsulinemia hypoglycemia	http://purl.obolibrary.org/obo/MONDO_0005803	Orphanet:443095|https://omim.org/phenotypicSeries/PS256450|http://identifiers.org/snomedct/42681006|DOID:13317	ordo_group_of_disorders|disease_grouping
UBERON:0002437	biolink:AnatomicalEntity	cerebral hemisphere white matter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002437		
MONDO:0005800	biolink:Disease	hordeolum	An acute, localized swelling of the eyelid that may be external or internal and usually is a pyogenic (typically staphylococcal) infection or abscess.	UMLS:C0019917|DOID:9909|SCTID:397513003|MESH:D006726|NCIT:C118722|EFO:0007315	mondo.json	blepharitis of eyelid gland|eyelid gland blepharitis|boil of eyelid|furuncle of eyelid|Stye	http://purl.obolibrary.org/obo/MONDO_0005800	UMLS:C0019917|http://identifiers.org/mesh/D006726|DOID:9909|NCIT:C118722|http://identifiers.org/snomedct/397513003	
CHEBI:35219	biolink:ChemicalSubstance	plant growth retardant			mondo.json	plant growth inhibitor|plant growth retardants|plant growth inhibitors	http://purl.obolibrary.org/obo/CHEBI_35219		
CHEBI:50858	biolink:ChemicalSubstance	corticosteroid	A natural or synthetic analogue of the hormones secreted by the adrenal gland.		mondo.json	corticosteroides|corticoides|corticosteroids	http://purl.obolibrary.org/obo/CHEBI_50858		
CL:0002067	biolink:Cell	type A enteroendocrine cell	An enteroendocrine cell that produces glucagon.	FMA:62939	mondo.json		http://purl.obolibrary.org/obo/CL_0002067		
CL:0002068	biolink:Cell	Purkinje myocyte	Specialized cardiac myocyte that is subendocardially interspersed with the regular cardiac muscle cell. They are uninucleate cylindrical cells, associated end-to-end in long rows, continue from the node to the atrioventricular bundle; relatively short compared to ordinary myocytes but are nearly twice their diameter.	BTO:0001032|FMA:14146	mondo.json	Purkinje cell fiber|Purkinje muscle cell|myocytus conducens cardiacus	http://purl.obolibrary.org/obo/CL_0002068		
HGNC:9305	biolink:NamedThing	PPP2R2B			mondo.json		http://identifiers.org/hgnc/9305		
UBERON:0002445	biolink:AnatomicalEntity	ulnare			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002445		
UBERON:0002446	biolink:AnatomicalEntity	patella			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002446		
CL:0002063	biolink:Cell	type II pneumocyte	A type II pneumocyte is a pneumocyte that modulates the fluid surrounding the alveolar epithelium by secreting and recycling surfactants. This cell type also contributes to tissue repair and can differentiate after injury into a type I pneumocyte. Thicker than squamous alveolar cells, have a rounded apical surface that projects above the level of surrounding epithelium. The free surface is covered by short microvilli.	BTO:0000538|FMA:62501	mondo.json	granular pneumocyte|cuboidal type II cell|great alveolar cell|type II alveolocyte|lung type II cell|TII|ATII|type 2 alveolar epithelial cell|type II alveolar cell|AT2|type 2 alveolocyte|type 2 pneumocyte|type II alveolar epithelial cell|lung type 2 cell	http://purl.obolibrary.org/obo/CL_0002063		
HGNC:9302	biolink:NamedThing	PPP2R1A			mondo.json		http://identifiers.org/hgnc/9302		
CL:0002062	biolink:Cell	type I pneumocyte	A type I pneumocyte is a flattened, branched pneumocyte that covers more than 98% of the alveolar surface. This large cell has thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange.	BTO:0000780|FMA:62500	mondo.json	type I alveolar epithelial cells|membranous pneumocytes|ATI|type I alveolar cells|squamous alveolar cell|pulmonary alveolar type I cell|small alveolar cells|squamous alveolar lining cell|type 1 alveolar epithelial cells|AT1|type 1 pneumocyte|lung type 1 cells	http://purl.obolibrary.org/obo/CL_0002062		
HGNC:9303	biolink:NamedThing	PPP2R1B			mondo.json		http://identifiers.org/hgnc/9303		
UBERON:0002443	biolink:AnatomicalEntity	choroidal blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002443		
CL:0002064	biolink:Cell	pancreatic acinar cell	A secretory cell found in pancreatic acini that secretes digestive enzymes and mucins. This cell is a typical zymogenic cell, have a basal nucleus and basophilic cytoplasm consisting of regular arrays of granular endoplasmic reticulum with mitochondria and dense secretory granules.	FMA:63032|CALOHA:TS-0737|BTO:0000028	mondo.json	acinar cell of pancreas	http://purl.obolibrary.org/obo/CL_0002064		
MONDO:0005813	biolink:Disease	interdigitating dendritic cell sarcoma	A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008)	SCTID:715664005|DOID:7848|NCIT:C9282|ONCOTREE:IDCS|MESH:D054739|EFO:0007329|ICDO:9757/3|ICDO:9757/1	mondo.json	interdigitating cell sarcoma|interdigitating Dendritic cell sarcoma|interdigitating cell sarcoma/tumor|interdigitating Dendritic cell sarcoma/tumor	http://purl.obolibrary.org/obo/MONDO_0005813	DOID:7848|NCIT:C9282|http://identifiers.org/snomedct/715664005|http://identifiers.org/mesh/D054739	
MONDO:0005812	biolink:Disease	influenza	An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system.	EFO:0007411|ICD9:487.8|MESH:D007251|ICD9:487|MESH:D009976|NCIT:C53482|EFO:0007328|SCTID:61700007|DOID:8469	mondo.json	influenza with non-respiratory manifestation|influenza infection|Influenza with other manifestations|orthomyxoviridae infectious disease|orthomyxoviridae caused disease or disorder|flu|orthomyxoviridae disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005812	http://identifiers.org/snomedct/61700007|DOID:8469|NCIT:C53482|http://identifiers.org/mesh/D009976|http://identifiers.org/mesh/D007251	
MONDO:0005815	biolink:Disease	pancreatic neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the pancreas. It includes neuroendocrine tumors (low and intermediate grade) and neuroendocrine carcinomas (high grade).	EFO:0007331|GARD:0007311|NCIT:C27031|DOID:1799|Orphanet:506052|SCTID:254611009|ICDO:8150/1	mondo.json	Islet cell tumors|islet cell tumour|pancreatic NEN|pancreatic endocrine neoplasm|endocrine pancreas neoplasm|tumor of endocrine pancreas|malignant pancreatic endocrine tumor|PNEN|islet cell neoplasm|endocrine pancreas neoplasm (disease)|pancreatic neuroendocrine neoplasm|neuroendocrine neoplasm of pancreas|Islet of Langerhans tumor|neoplasm of endocrine pancreas|endocrine pancreas cancer|endocrine pancreas tumor|malignant tumor of endocrine pancreas|islet cell tumor	http://purl.obolibrary.org/obo/MONDO_0005815	Orphanet:506052|DOID:1799|http://identifiers.org/snomedct/254611009|NCIT:C27031	ordo_group_of_disorders|disease_grouping
HGNC:39080	biolink:NamedThing	KCNJ18			mondo.json		http://identifiers.org/hgnc/39080		
MONDO:0005814	biolink:Disease	intestinal cancer	A malignant neoplasm involving the intestine	UMLS:C0346627|SCTID:363508008|MESH:D007414|EFO:0007330|DOID:10155|ICD9:159.0|NCIT:C4572	mondo.json	bowel cancer|malignant intestinal neoplasm|intestine cancer|intestinal tumors, malignant|malignant neoplasm of intestine|malignant neoplasm of the intestine|intestinal cancer|intestinal neoplasms, malignant|malignant intestine tumor|malignant intestinal tumor|malignant intestinal neoplasms|malignant intestinal tumors|cancer of intestine|malignant tumor of the intestine|malignant tumor of intestine|malignant intestine neoplasm|cancer of the intestine	http://purl.obolibrary.org/obo/MONDO_0005814	DOID:10155|NCIT:C4572|UMLS:C0346627|http://identifiers.org/snomedct/363508008|http://identifiers.org/mesh/D007414	
CHEBI:50846	biolink:ChemicalSubstance	immunomodulator	Biologically active substance whose activity affects or plays a role in the functioning of the immune system.		mondo.json	Immunological factor|immunomodulators|Immunologic factor|Immune factor|Biomodulator	http://purl.obolibrary.org/obo/CHEBI_50846		
UBERON:0002427	biolink:AnatomicalEntity	arm skin			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002427		
UBERON:0002426	biolink:AnatomicalEntity	chest muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002426		
UBERON:0002429	biolink:AnatomicalEntity	cervical lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002429		
MONDO:0005811	biolink:Disease	infectious myxomatosis	A viral infectious disease that results in infection located in eyes or located in upper respiratory tract of domestic rabbits, has material basis in Myxoma virus, which is transmitted by mosquitos, transmitted by biting flies or transmitted by direct contact. The infection has symptom conjunctivitis with a milky discharge from the inflamed eye and has symptom breathing difficulties.	MESH:D009234|EFO:0007327|UMLS:C0027152	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005811	UMLS:C0027152|http://identifiers.org/mesh/D009234	
MONDO:0005810	biolink:Disease	infectious mononucleosis	A condition characterized by an increase in mononuclear white blood cells and swollen lymph nodes, which is usually caused by infection with the Epstein-Barr virus.	UMLS:C0021345|MESH:D007244|ICD9:075|DOID:8568|EFO:0007326|NCIT:C34726|SCTID:186668002	mondo.json	Filatov's disease|Gammaherpesviral mononucleosis|Mono|mononucleosis|Pfeiffer's disease|glandular fever|monocytic angina	http://purl.obolibrary.org/obo/MONDO_0005810	UMLS:C0021345|DOID:8568|http://identifiers.org/snomedct/186668002|NCIT:C34726|http://identifiers.org/mesh/D007244	
UBERON:0002428	biolink:AnatomicalEntity	limb bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002428		
PATO:0010001	biolink:NamedThing	disconnected	A structural quality inhering in the bearer by virtue of the bearer consisting of multiple structures lacking any physical connection to each other.		mondo.json		http://purl.obolibrary.org/obo/PATO_0010001		
CHEBI:35223	biolink:ChemicalSubstance	catalyst	A substance that increases the rate of a reaction without modifying the overall standard Gibbs energy change in the reaction.		mondo.json	catalyseur|catalyst|Katalysator|catalizador	http://purl.obolibrary.org/obo/CHEBI_35223		
CL:0002078	biolink:Cell	meso-epithelial cell	Epithelial cell derived from mesoderm or mesenchyme.	FMA:69076	mondo.json	epithelial mesenchymal cell	http://purl.obolibrary.org/obo/CL_0002078		
CL:0002077	biolink:Cell	ecto-epithelial cell	An epithelial cell derived from ectoderm.	FMA:69074	mondo.json		http://purl.obolibrary.org/obo/CL_0002077		
CHEBI:35222	biolink:ChemicalSubstance	inhibitor	A substance that diminishes the rate of a chemical reaction.		mondo.json	inhibitor|inhibiteur|inhibidor|inhibitors	http://purl.obolibrary.org/obo/CHEBI_35222		
CL:0002079	biolink:Cell	pancreatic ductal cell	Epithelial cell found in the ducts of the pancreas. This cell type contributes to the high luminal pH.	FMA:63099	mondo.json		http://purl.obolibrary.org/obo/CL_0002079		
PATO:0010006	biolink:NamedThing	cell morphology	A quality of a single cell inhering in the bearer by virtue of the bearer's size or shape or structure.		mondo.json		http://purl.obolibrary.org/obo/PATO_0010006		
UBERON:0002434	biolink:AnatomicalEntity	pituitary stalk			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002434		
MONDO:0005809	biolink:Disease	infectious ectromelia	A viral infection of mice, causing edema and necrosis followed by limb loss.	MESH:D004482|EFO:0007325|UMLS:C0013591	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005809	http://identifiers.org/mesh/D004482|UMLS:C0013591	
CL:0002072	biolink:Cell	nodal myocyte	A specialized cardiac myocyte in the sinoatrial and atrioventricular nodes. The cell is slender and fusiform confined to the nodal center, circumferentially arranged around the nodal artery.	FMA:67101|BTO:0004190	mondo.json	P cell|myocytus nodalis|cardiac pacemaker cell|pacemaker cell	http://purl.obolibrary.org/obo/CL_0002072		
MONDO:0005806	biolink:Disease	hypopharynx cancer	A primary or metastatic malignant neoplasm that affects the hypopharynx.	ICD9:148|DOID:8533|EFO:0007321|ICD10CM:C13|ICD9:148.3|GARD:0009334|ICD9:148.9|NCIT:C7190|SCTID:303012000|MESH:D007012	mondo.json	hypopharyngeal cancer|malignant tumor of the hypopharynx|malignant tumor of hypopharynx|hypopharynx pharynx cancer|pharynx cancer of hypopharynx|malignant neoplasm of hypopharynx|malignant hypopharyngeal tumor|malignant hypopharyngeal neoplasm|malignant neoplasm of other specified sites of hypopharynx|hypural pharynx cancer|malignant neoplasm of posterior wall of hypopharynx|malignant neoplasm of posterior hypopharyngeal wall|malignant neoplasm of the hypopharynx|malignant tumour of hypopharynx|malignant neoplasm of other specified hypopharyngeal site|malignant tumor of posterior wall of hypopharynx|malignant neoplasm of ill-defined sites within the lip and oral cavity	http://purl.obolibrary.org/obo/MONDO_0005806	NCIT:C7190|http://identifiers.org/snomedct/303012000|DOID:8533|http://purl.bioontology.org/ontology/ICD10CM/C13|http://identifiers.org/mesh/D007012	
CL:0002074	biolink:Cell	myocardial endocrine cell	The myoendocrine cellis a specialized myocyte localized mainly in the right and left atrial appendages, and also scattered within other areas of the atria and along the conductive system in the ventricular septum. The most conspicuous feature distinguishing myoendocrine cells from other atrial myoctyes is the presence of membane-bounded secretory granules (these granules contain precursor of cardiodilatins or atrial natriuretic polypeptides).	FMA:67111	mondo.json		http://purl.obolibrary.org/obo/CL_0002074		
MONDO:0005805	biolink:Disease	hypodermyiasis	Infestation with larvae of the genus Hypoderma, the warble fly.	UMLS:C0020607|EFO:0007320|Orphanet:430|MESH:D007000|DOID:12926	mondo.json	Oestridae infectious disease|Oestridae caused disease or disorder|Oestridae disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005805	DOID:12926|UMLS:C0020607|Orphanet:430|http://identifiers.org/mesh/D007000	
CL:0002073	biolink:Cell	transitional myocyte	Specialized cardiac myocyte which is in the internodal tract and atrioventricular node. The cell is more slender than ordinary atrial myocytes and has more myofibrils than nodal myocytes.	FMA:67142	mondo.json		http://purl.obolibrary.org/obo/CL_0002073		
MONDO:0005808	biolink:Disease	inclusion conjunctivitis	Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery.	DOID:13800|GARD:0006777|EFO:0007324|NCIT:C116817|UMLS:C0009770|ICD9:077.98|MESH:D003235|ICD9:077.0|ICD10CM:A74.0|SCTID:231861005	mondo.json	adult inclusion conjunctivitis|Chlamydial conjunctivitis|Trachoma|inclusion blenorrhea|inclusion blennorrhoea|neonatal Chlamydia conjunctivitis|Paratrachoma	http://purl.obolibrary.org/obo/MONDO_0005808	NCIT:C116817|DOID:13800|http://identifiers.org/snomedct/231861005|http://identifiers.org/mesh/D003235|http://purl.bioontology.org/ontology/ICD10CM/A74.0|UMLS:C0009770	gard_rare
CHEBI:35221	biolink:ChemicalSubstance	antimetabolite	A substance which is structurally similar to a metabolite but which competes with it or replaces it, and so prevents or reduces its normal utilization.		mondo.json	antimetabolites|antimetabolite	http://purl.obolibrary.org/obo/CHEBI_35221		
CL:0002076	biolink:Cell	endo-epithelial cell	An epithelial cell derived from endoderm.	FMA:69075	mondo.json		http://purl.obolibrary.org/obo/CL_0002076		
MONDO:0005807	biolink:Disease	idiopathic CD4-positive T-lymphocytopenia	A rare immunodeficiency syndrome characterized by the decrease of the CD4-positive lymphocytes below 300 per cubic millimeter in the absence of identifiable immunodeficiency causes. Patients with this syndrome are at an increased risk of opportunistic infections.	NCIT:C84780|EFO:0007322|MESH:D018344|DOID:3109|UMLS:C0206744	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005807	DOID:3109|UMLS:C0206744|http://identifiers.org/mesh/D018344|NCIT:C84780	
HGNC:9312	biolink:NamedThing	PPP2R5D			mondo.json		http://identifiers.org/hgnc/9312		
UBERON:0002419	biolink:AnatomicalEntity	skin gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002419		
UBERON:0002416	biolink:AnatomicalEntity	integumental system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002416		
UBERON:0002415	biolink:AnatomicalEntity	tail			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002415		
UBERON:0002418	biolink:AnatomicalEntity	cartilage tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002418		
UBERON:0002417	biolink:AnatomicalEntity	abdominal segment of trunk			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002417		
UBERON:0014401	biolink:AnatomicalEntity	renal venous blood vessel			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014401		
UBERON:0014402	biolink:AnatomicalEntity	sex-specific anatomical structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014402		
HGNC:27089	biolink:NamedThing	CARMIL2			mondo.json		http://identifiers.org/hgnc/27089		
UBERON:0014403	biolink:AnatomicalEntity	male anatomical structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014403		
UBERON:0014404	biolink:AnatomicalEntity	female anatomical structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014404		
UBERON:0014400	biolink:AnatomicalEntity	hepatic sinusoidal space			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014400		
CL:0002045	biolink:Cell	Fraction A pre-pro B cell	A pro-B cell that CD45R/B220-positive, CD43-positive, HSA-low, BP-1-negative and Ly6c-negative. This cell type is also described as being lin-negative, AA4-positive, Kit-positive, IL7Ra-positive and CD45R-positive.		mondo.json	pre pro B cell|fraction A	http://purl.obolibrary.org/obo/CL_0002045		
CL:0002044	biolink:Cell	Kit-positive, integrin beta7-high basophil mast progenitor cell	A basophil mast progenitor cell that is Beta-7 integrin-high, Kit-positive FcRgammaII/III-positive and Sca1-negative.		mondo.json		http://purl.obolibrary.org/obo/CL_0002044		
CL:0002047	biolink:Cell	Fraction B precursor B cell	A precursor B cell that is CD45RA-positive, CD43-positive, CD24-positive and BP-1-negative.		mondo.json	Fr. B|Fraction B	http://purl.obolibrary.org/obo/CL_0002047		
CL:0002049	biolink:Cell	Fraction C precursor B cell	A precursor B cell is CD45R-positive, CD43-positive, CD24-positive, and BP-positive. Intracellularly expression of surrogate light chain, Rag1 and Rag2, TdT, occurs while there is no expression of mu heavy chain.		mondo.json	Fraction C	http://purl.obolibrary.org/obo/CL_0002049		
UBERON:0002423	biolink:AnatomicalEntity	hepatobiliary system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002423		
UBERON:0002422	biolink:AnatomicalEntity	fourth ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002422		
MONDO:0500018	biolink:Disease	acute fibrinous and organizing pneumonia	A rare pulmonary disease with histological pattern of interstitial pneumonitis characterized by the deposit of intra-alveolar fibrin and diffuse organizing pneumonia within the alveolar ducts and bronchioles, with large etiological spectra.		mondo.json	AFOP	http://purl.obolibrary.org/obo/MONDO_0500018		
UBERON:0002425	biolink:AnatomicalEntity	visceral serous pericardium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002425		
UBERON:0002424	biolink:AnatomicalEntity	oral epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002424		
HGNC:9325	biolink:NamedThing	PPT1			mondo.json		http://identifiers.org/hgnc/9325		
UBERON:0002421	biolink:AnatomicalEntity	hippocampal formation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002421		
CL:0002043	biolink:Cell	CD34-positive, CD38-negative multipotent progenitor cell	A hematopoietic multipotent progenitor cell that is CD34-positive, CD38-negative, CD45RA-negative, and CD90-negative.		mondo.json		http://purl.obolibrary.org/obo/CL_0002043		
UBERON:0002409	biolink:AnatomicalEntity	pericardial fluid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002409		
UBERON:0002408	biolink:AnatomicalEntity	parietal serous pericardium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002408		
UBERON:0002405	biolink:AnatomicalEntity	immune system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002405		
UBERON:0002407	biolink:AnatomicalEntity	pericardium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002407		
UBERON:0002406	biolink:AnatomicalEntity	pericardial sac			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002406		
HP:0033796	biolink:PhenotypicFeature	Abnormal leukocyte physiology	A functional abnormality of a white blood cell.		mondo.json		http://purl.obolibrary.org/obo/HP_0033796		
GO:0046434	biolink:NamedThing	organophosphate catabolic process	The chemical reactions and pathways resulting in the breakdown of organophosphates, any phosphate-containing organic compound.		mondo.json	organophosphate catabolism|organophosphate degradation|organophosphate breakdown	http://purl.obolibrary.org/obo/GO_0046434		
NCBITaxon:71583	biolink:OrganismalEntity	Balantidiidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_71583		
MONDO:0500000	biolink:Disease	episodic angioedema with eosinophilia	A disorder characterized by episodes of swelling under the skin (angioedema) and an elevated number of the white blood cells known as eosinophils (eosinophilia). During these episodes, symptoms of hives (urticaria), fever, swelling, weight gain and eosinophilia may occur. Symptoms usually appear every 3-4 weeks and resolve on their own within several days. Other cells may be elevated during the episodes, such as neutrophils and lymphocytes. Although the syndrome is often considered a subtype of the idiopathic hypereosinophilic syndromes, it does not typically have organ involvement or lead to other health concerns.	GARD:0013029	mondo.json	EAE|Gleich's syndrome|Gleich syndrome	http://purl.obolibrary.org/obo/MONDO_0500000		
CL:0002056	biolink:Cell	Fraction F mature B cell	A mature B cell subset originally defined as having being CD45R-positive, IgM-positive, IgD-positive and CD43-negative. Subsequent research demonstrated being CD21-positive and CD23-negative and CD93 negative.		mondo.json		http://purl.obolibrary.org/obo/CL_0002056		
NCBITaxon:71585	biolink:OrganismalEntity	Balantioides coli		PMID:23556024|PMID:25185665|GC_ID:1	mondo.json	Balantidium coli|Neobalantidium coli|Paramecium coli	http://purl.obolibrary.org/obo/NCBITaxon_71585		
NCBITaxon:71584	biolink:OrganismalEntity	Balantidium		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_71584		
HP:0031137	biolink:PhenotypicFeature	Storage in hepatocytes	Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material.		mondo.json		http://purl.obolibrary.org/obo/HP_0031137		
HP:0033799	biolink:PhenotypicFeature	Abnormal circulating sex hormone concentration	Any deviation from the normal concentration of a sex hormone in the blood circulation		mondo.json	Abnormal circulating gonadocorticoid concentration|Abnormal circulating sex steroid concentration|Abnormal circulating gonadal steroid concentration	http://purl.obolibrary.org/obo/HP_0033799		
CL:0002059	biolink:Cell	CD8alpha-positive thymic conventional dendritic cell	A conventional thymic dendritic cell that is CD8alpha-positive.		mondo.json	CD8alpha-alpha-positive thymic conventional dendritic cell|DC.8+.Th	http://purl.obolibrary.org/obo/CL_0002059		
UBERON:0002412	biolink:AnatomicalEntity	vertebra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002412		
UBERON:0002411	biolink:AnatomicalEntity	clitoris			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002411		
UBERON:0002414	biolink:AnatomicalEntity	lumbar vertebra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002414		
CL:0002050	biolink:Cell	Fraction C' precursor B cell	A pre-BCR-positive precursor B cell that is CD24-high, CD25-positive, CD43-positive, CD45R-positive and BP-positive.		mondo.json	Fraction C-prime|Fr. C'	http://purl.obolibrary.org/obo/CL_0002050		
HGNC:9330	biolink:NamedThing	PQBP1			mondo.json		http://identifiers.org/hgnc/9330		
UBERON:0002413	biolink:AnatomicalEntity	cervical vertebra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002413		
CL:0002052	biolink:Cell	Fraction D precursor B cell	A pre-B cell that is pre-BCR-negative, and the kappa- and lambda- light immunoglobulin light chain-negative, CD43-low, and is BP-1-positive, CD45R-positive and CD25-positive. This cell type is also described as being AA4-positive, IgM-negative, CD19-positive, CD43-low/negative, and HSA-positive.		mondo.json	Fr. D|Fraction D pre-B cell	http://purl.obolibrary.org/obo/CL_0002052		
CL:0002054	biolink:Cell	Fraction E immature B cell	An immature B cell that is IgM-positive, CD45R-positive, CD43-low, CD25-negative, and CD127-negative. This cell type has also been described as being AA4-positive, IgM-positive, CD19-positive, CD43-low/negative, and HSA-positive.		mondo.json		http://purl.obolibrary.org/obo/CL_0002054		
UBERON:0002410	biolink:AnatomicalEntity	autonomic nervous system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002410		
CHR:9606-chr1q41-q42	biolink:NamedThing	1q41-q42 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr1q41-q42		
PATO:0000647	biolink:NamedThing	necrotic	A structural quality inhering in a bearer by virtue of the bearer's undergoing unprogrammed cell death.		mondo.json		http://purl.obolibrary.org/obo/PATO_0000647		
CHEBI:62803	biolink:ChemicalSubstance	fuel additive	Any additive that enhances the efficiency of fuel.		mondo.json	fuel enhancer|fuel additives	http://purl.obolibrary.org/obo/CHEBI_62803		
HP:0033725	biolink:PhenotypicFeature	Thin corpus callosum	An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).		mondo.json	Thinning of the corpus callosum|Small corpus callosum	http://purl.obolibrary.org/obo/HP_0033725		
OBO:ECTO_0000590	biolink:NamedThing	exposure to vasodilator agent	An exposure to vasodilator agent.		mondo.json	exposure to vasodilator agent	http://purl.obolibrary.org/obo/ECTO_0000590		
HGNC:40038	biolink:NamedThing	PET100			mondo.json		http://identifiers.org/hgnc/40038		
GO:0034440	biolink:NamedThing	lipid oxidation	The removal of one or more electrons from a lipid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen.		mondo.json		http://purl.obolibrary.org/obo/GO_0034440		
MONDO:0015193	biolink:Disease	hydrops fetalis	Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).	Orphanet:1041|UMLS:C0020305|SCTID:276508000|MESH:D015160|HP:0001789|GARD:0002301|NCIT:C84767|GARD:0002783|MedDRA:10020529	mondo.json	hydrops fetalis nonimmune|idiopathic hydrops fetalis|HF|hydrops fetalis|fetal hydrops|hydrops fetalis (disease)|generalized fetal edema|fetal edema|fetal anasarca|familial non-immune hydrops fetalis	http://purl.obolibrary.org/obo/MONDO_0015193	NCIT:C84767|UMLS:C0020305|http://identifiers.org/mesh/D015160|Orphanet:1041|http://identifiers.org/snomedct/276508000	gard_rare|ordo_malformation_syndrome
MONDO:0015192	biolink:Disease	obsolete unclassified intestinal pseudoobstruction		Orphanet:104078|UMLS:CN197532	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015192	UMLS:CN197532|Orphanet:104078	ordo_etiological_subtype
MONDO:0015191	biolink:Disease	myopathic intestinal pseudoobstruction		Orphanet:104077	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015191	Orphanet:104077	ordo_etiological_subtype
MONDO:0015190	biolink:Disease	obsolete leiomyosarcoma of small intestine			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015190		
GO:0010468	biolink:NamedThing	regulation of gene expression	Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).		mondo.json	gene regulation|regulation of protein expression|regulation of gene product expression	http://purl.obolibrary.org/obo/GO_0010468		
GO:0010469	biolink:NamedThing	regulation of signaling receptor activity	Any process that modulates the frequency, rate or extent of a signaling receptor activity. Receptor activity is when a molecule combines with an extracellular or intracellular messenger to initiate a change in cell activity.		mondo.json	regulation of receptor activity|regulation of signalling receptor activity	http://purl.obolibrary.org/obo/GO_0010469		
GO:0010463	biolink:NamedThing	mesenchymal cell proliferation	The multiplication or reproduction of cells, resulting in the expansion of a mesenchymal cell population. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets.		mondo.json		http://purl.obolibrary.org/obo/GO_0010463		
HP:0008734	biolink:PhenotypicFeature	Decreased testicular size	Reduced volume of the testicle (the male gonad).	SNOMEDCT_US:276411001|UMLS:C0241355	mondo.json	Decreased testicular size|Testicular hypoplasia|Small testes|Hypoplastic testes|Small testis	http://purl.obolibrary.org/obo/HP_0008734		
GO:0010466	biolink:NamedThing	negative regulation of peptidase activity	Any process that stops or reduces the rate of peptidase activity, the hydrolysis of peptide bonds within proteins.		mondo.json		http://purl.obolibrary.org/obo/GO_0010466		
GO:0010467	biolink:NamedThing	gene expression	The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, translation and maturation for protein-coding genes.		mondo.json		http://purl.obolibrary.org/obo/GO_0010467		
HP:0033747	biolink:PhenotypicFeature	Abnormal exteroceptive sensation	A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes.		mondo.json		http://purl.obolibrary.org/obo/HP_0033747		
GO:0010464	biolink:NamedThing	regulation of mesenchymal cell proliferation	Any process that modulates the frequency, rate or extent of mesenchymal cell proliferation. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets.		mondo.json		http://purl.obolibrary.org/obo/GO_0010464		
MONDO:0015197	biolink:Disease	aneurysm of sinus of Valsalva	Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.	ICD9:747.29|Orphanet:1054|GARD:0000670|SCTID:54160000|UMLS:CN197542	mondo.json	SVA|sinus of Valsalva aneurysm	http://purl.obolibrary.org/obo/MONDO_0015197	UMLS:CN197542|http://identifiers.org/snomedct/54160000|Orphanet:1054	gard_rare|ordo_morphological_anomaly
MONDO:0015196	biolink:Disease	vein of Galen aneurysm	Vein of Galen aneurysm is a rare formof arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins on the face and scalp, developmental delay, persistent headache, and other neurological findings. Vein of Galen aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth. Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development. Treatment is aimed at decreasing the blood flow through the malformation while maximizing the blood supply to the brain. Minimally invasive surgical techniques are preferred, such as endovascular embolization.	GARD:0005467|SCTID:253194008|Orphanet:1053|UMLS:C0431420|MESH:C536535	mondo.json	Galenic arteriovenous malformation|ectasia or varix of the vein of Galen|vein of Galen aneurysm malformation|VGAM|Galen vein aneurysm|vein of Galen arteriovenous malformations	http://purl.obolibrary.org/obo/MONDO_0015196	UMLS:C0431420|Orphanet:1053|http://identifiers.org/snomedct/253194008|http://identifiers.org/mesh/C536535	gard_rare|ordo_morphological_anomaly
MONDO:0015195	biolink:Disease	atresia of urethra	Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development.	HP:0000068|SCTID:253902002|MedDRA:10064895|Orphanet:105|ICD10CM:Q64.3	mondo.json	atresia of urethra|urethral atresia|atresia of urethra (disease)	http://purl.obolibrary.org/obo/MONDO_0015195	http://identifiers.org/snomedct/253902002|Orphanet:105	ordo_morphological_anomaly
MONDO:0015194	biolink:Disease	sideroblastic anemia	Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias.	MESH:D000756|ICD9:285.0|OMIMPS:300751|SCTID:41841004|GARD:0000667|NCIT:C36078|MedDRA:10040661|DOID:8955|Orphanet:1047|UMLS:C0002896	mondo.json	anemia, sideroblastic|anemia sideroblastic|sideroblastic anemia|anemia, hypochromic with iron loading	http://purl.obolibrary.org/obo/MONDO_0015194	http://identifiers.org/snomedct/41841004|NCIT:C36078|DOID:8955|Orphanet:1047|UMLS:C0002896|http://identifiers.org/mesh/D000756	disease_grouping|ordo_group_of_disorders
MONDO:0015199	biolink:Disease	aniridia - intellectual disability syndrome	Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.	Orphanet:1068|GARD:0005530|MESH:C536568|UMLS:C2931243	mondo.json	Walker Dyson syndrome|Walker-Dyson syndrome|aniridia associated with mental retardation and other eye abnormalities|aniridia associated with intellectual disability and other eye abnormalities	http://purl.obolibrary.org/obo/MONDO_0015199	UMLS:C2931243|Orphanet:1068|http://identifiers.org/mesh/C536568	ordo_malformation_syndrome
MONDO:0015198	biolink:Disease	aniridia-ptosis-intellectual disability-familial obesity syndrome	Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.	SCTID:720987001|Orphanet:1067|GARD:0000689|UMLS:CN226622	mondo.json	aniridia - ptosis - intellectual disability - familial obesity	http://purl.obolibrary.org/obo/MONDO_0015198	http://identifiers.org/snomedct/720987001|Orphanet:1067|UMLS:CN226622	ordo_malformation_syndrome
MONDO:0015182	biolink:Disease	congenital enteropathy involving intestinal mucosa development		Orphanet:104007	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015182	Orphanet:104007	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0015181	biolink:Disease	obsolete congenital intestinal disease due to an enzymatic defect		Orphanet:104006	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015181	Orphanet:104006	ordo_group_of_disorders
MONDO:0015180	biolink:Disease	intestinal disease due to fat malabsorption		UMLS:CN197522|Orphanet:104005	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015180	UMLS:CN197522|Orphanet:104005	ordo_group_of_disorders|disease_grouping
CHEBI:74818	biolink:ChemicalSubstance	heteroaryl hydroxy compound	Any organic aromatic compound having one or more hydroxy groups attached to a heteroarene ring.		mondo.json	hetaryl hydroxy compounds|heteroaromatic hydroxy compound|heteroaromatic hydroxy compounds|hetaryl hydroxy compound|heteroaryl hydroxy compounds	http://purl.obolibrary.org/obo/CHEBI_74818		
MONDO:0015186	biolink:Disease	obsolete rare tumor of intestine	OBSOLETE. Rare intestinal neoplasm.	Orphanet:104011	mondo.json	rare tumor of bowel|rare intestinal neoplasm|rare intestinal tumor	http://purl.obolibrary.org/obo/MONDO_0015186	Orphanet:104011	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0015185	biolink:Disease	intestinal polyposis syndrome		UMLS:C0345891|NCIT:C155954|UMLS:CN197525|Orphanet:104010|MedDRA:10057018|SCTID:254589009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015185	NCIT:C155954|UMLS:CN197525|http://identifiers.org/snomedct/254589009|UMLS:C0345891|Orphanet:104010	ordo_group_of_disorders|disease_grouping
MONDO:0015184	biolink:Disease	obsolete rare disease involving intestinal motility		UMLS:CN226620|Orphanet:104009	mondo.json	rare genetic intestinal motility disease	http://purl.obolibrary.org/obo/MONDO_0015184	UMLS:CN226620|Orphanet:104009	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
HGNC:30696	biolink:NamedThing	WDR36			mondo.json		http://identifiers.org/hgnc/30696		
MONDO:0015183	biolink:Disease	short bowel syndrome	Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.	MESH:D012778|NCIT:C99059|ICD9:579.3|SCTID:26629001|DOID:10605|MedDRA:10049416|GARD:0001502|Orphanet:104008|UMLS:C0036992	mondo.json	short gut syndrome|acquired short bowel syndrome	http://purl.obolibrary.org/obo/MONDO_0015183	UMLS:C0036992|DOID:10605|http://identifiers.org/snomedct/26629001|Orphanet:104008|NCIT:C99059|http://identifiers.org/mesh/D012778	gard_rare|disease_grouping|ordo_group_of_disorders
MONDO:0015189	biolink:Disease	obsolete adenocarcinoma of small instestine	OBSOLETE. An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0015189		
GO:0010470	biolink:NamedThing	regulation of gastrulation	Any process that modulates the rate or extent of gastrulation. Gastrulation is the complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals.		mondo.json		http://purl.obolibrary.org/obo/GO_0010470		
MONDO:0015188	biolink:Disease	obsolete metabolic disorder with intestinal involvement	OBSOLETE. A metabolic disease that involves the intestine.	UMLS:CN197528|Orphanet:104013	mondo.json	intestine metabolic disease|metabolic disease of intestine	http://purl.obolibrary.org/obo/MONDO_0015188	UMLS:CN197528|Orphanet:104013	ordo_group_of_disorders
MONDO:0015187	biolink:Disease	obsolete rare inflammatory bowel disease	OBSOLETE. Rare inflammatory bowel disease.	Orphanet:104012	mondo.json	rare inflammatory bowel disease	http://purl.obolibrary.org/obo/MONDO_0015187	Orphanet:104012	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
PATO:0000608	biolink:NamedThing	closed	A morphological quality inhering in a bearer by virtue of the bearer's affording blocked passage or view.		mondo.json	blocked	http://purl.obolibrary.org/obo/PATO_0000608		
HGNC:29683	biolink:NamedThing	SLC25A32			mondo.json		http://identifiers.org/hgnc/29683		
HGNC:29685	biolink:NamedThing	IARS2			mondo.json		http://identifiers.org/hgnc/29685		
MONDO:0054782	biolink:Disease	leukodystrophy, hypomyelinating, 15		UMLS:CN244566|OMIM:617951	mondo.json	leukodystrophy, hypomyelinating, 15|HLD15	http://purl.obolibrary.org/obo/MONDO_0054782	UMLS:CN244566|https://omim.org/entry/617951	
MONDO:0054781	biolink:Disease	combined oxidative phosphorylation deficiency 36		UMLS:CN244569|DOID:0111482|OMIM:617950	mondo.json	COXPD36|combined oxidative phosphorylation deficiency 36	http://purl.obolibrary.org/obo/MONDO_0054781	UMLS:CN244569|DOID:0111482|https://omim.org/entry/617950	
CHEBI:35294	biolink:ChemicalSubstance	carbopolycyclic compound	A polyclic compound in which all of the ring members are carbon atoms.		mondo.json	carbopolycyclic compounds	http://purl.obolibrary.org/obo/CHEBI_35294		
CHEBI:35293	biolink:ChemicalSubstance	fused compound			mondo.json	fused polycyclic compounds|fused-ring polycyclic compounds|fused-ring polycyclic compound|polycyclic fused-ring compounds|fused compounds	http://purl.obolibrary.org/obo/CHEBI_35293		
MONDO:0054780	biolink:Disease	elliptocytosis 3		OMIM:617948|MESH:C566678	mondo.json	anemia, neonatal hemolytic, fatal or near-fatal|elliptocytosis 3|anemia, perinatal hemolytic, fatal or near-fatal|elliptocytosis-3|EL3	http://purl.obolibrary.org/obo/MONDO_0054780	http://identifiers.org/mesh/C566678|https://omim.org/entry/617948	
CHEBI:35296	biolink:ChemicalSubstance	ortho-fused polycyclic arene			mondo.json	ortho-fused polycyclic arenes	http://purl.obolibrary.org/obo/CHEBI_35296		
CHEBI:35295	biolink:ChemicalSubstance	homopolycyclic compound			mondo.json	homopolycyclic compounds	http://purl.obolibrary.org/obo/CHEBI_35295		
MONDO:0054785	biolink:Disease	multiple mitochondrial dysfunctions syndrome 6		OMIM:617954|UMLS:CN244567|DOID:0070332|Orphanet:569290	mondo.json	PMPCB deficiency|MMDS6|multiple mitochondrial dysfunctions syndrome 6|multiple mitochondrial dysfunctions syndrome type 6	http://purl.obolibrary.org/obo/MONDO_0054785	DOID:0070332|UMLS:CN244567|Orphanet:569290|https://omim.org/entry/617954	ordo_disorder
CHEBI:35297	biolink:ChemicalSubstance	acene	A polycyclic aromatic hydrocarbon consisting of fused benzene rings in a rectilinear arrangement.		mondo.json	Acen|polyacenes|Azen|acene|acenes	http://purl.obolibrary.org/obo/CHEBI_35297		
OBO:ECTO_0000557	biolink:NamedThing	exposure to inhibitor	An exposure to inhibitor.		mondo.json	exposure to inhibitor	http://purl.obolibrary.org/obo/ECTO_0000557		
HGNC:30668	biolink:NamedThing	SRPX2			mondo.json		http://identifiers.org/hgnc/30668		
GO:0034404	biolink:NamedThing	nucleobase-containing small molecule biosynthetic process	The chemical reactions and pathways resulting in the formation of a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide.		mondo.json	nucleobase, nucleoside and nucleotide biosynthesis|nucleobase, nucleoside and nucleotide anabolism|nucleobase, nucleoside and nucleotide synthesis|nucleobase, nucleoside and nucleotide formation	http://purl.obolibrary.org/obo/GO_0034404		
PATO:0000610	biolink:NamedThing	open	A morphological quality inhering in a bearer by virtue of the bearer's affording unobstructed passage or view.		mondo.json		http://purl.obolibrary.org/obo/PATO_0000610		
GO:0010455	biolink:NamedThing	positive regulation of cell fate commitment	Any process that activates, maintains or increases the frequency or rate of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field.		mondo.json		http://purl.obolibrary.org/obo/GO_0010455		
CHEBI:59252	biolink:ChemicalSubstance	linear tetrapyrrole anion	An organic anion arising from deprotonation of a acyclic tetrapyrrole compound.		mondo.json	acyclic tetrapyrrole anions|linear tetrapyrrole anions|acyclic tetrapyrrole anion	http://purl.obolibrary.org/obo/CHEBI_59252		
HGNC:27030	biolink:NamedThing	DNAJC21			mondo.json		http://identifiers.org/hgnc/27030		
GO:0010453	biolink:NamedThing	regulation of cell fate commitment	Any process that modulates the frequency, rate or extent of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field.		mondo.json		http://purl.obolibrary.org/obo/GO_0010453		
GO:0010454	biolink:NamedThing	negative regulation of cell fate commitment	Any process that stops, prevents or reduces the frequency or rate of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field.		mondo.json		http://purl.obolibrary.org/obo/GO_0010454		
MONDO:0054771	biolink:Disease	keratoconus 9		UMLS:CN244547|OMIM:617928	mondo.json	KTCN9|keratoconus 9	http://purl.obolibrary.org/obo/MONDO_0054771	UMLS:CN244547|https://omim.org/entry/617928	
MONDO:0054770	biolink:Disease	orofaciodigital syndrome 18		UMLS:CN244546|OMIM:617927	mondo.json	orofaciodigital syndrome XVIII|Ofds 18|OFD18|oral-Facial-digital syndrome, type 18	http://purl.obolibrary.org/obo/MONDO_0054770	UMLS:CN244546|https://omim.org/entry/617927	
MONDO:0054776	biolink:Disease	epilepsy, familial focal, with variable foci 4		OMIM:617935|UMLS:CN244552	mondo.json	FFEVF4|epilepsy, FAMILIAL focal, with variable foci 4	http://purl.obolibrary.org/obo/MONDO_0054776	UMLS:CN244552|https://omim.org/entry/617935	
OBO:ECTO_0000524	biolink:NamedThing	exposure to mycotoxin	An exposure to mycotoxin.		mondo.json	exposure to mycotoxin	http://purl.obolibrary.org/obo/ECTO_0000524		
PATO:0000627	biolink:NamedThing	localized	A spatial pattern quality inhering in a bearer by virtue of the bearer's being confined or restricted to a particular location.		mondo.json	focal|localised	http://purl.obolibrary.org/obo/PATO_0000627		
OBO:ECTO_0000523	biolink:NamedThing	exposure to mutagen	An exposure to mutagen.		mondo.json	exposure to mutagen	http://purl.obolibrary.org/obo/ECTO_0000523		
OBO:ECTO_0000526	biolink:NamedThing	exposure to neurotransmitter	An exposure to neurotransmitter.		mondo.json	exposure to neurotransmitter	http://purl.obolibrary.org/obo/ECTO_0000526		
GO:0022411	biolink:NamedThing	cellular component disassembly	A cellular process that results in the breakdown of a cellular component.		mondo.json	cellular component disassembly at cellular level|cell structure disassembly	http://purl.obolibrary.org/obo/GO_0022411		
HGNC:29669	biolink:NamedThing	IFT43			mondo.json		http://identifiers.org/hgnc/29669		
GO:0022410	biolink:NamedThing	circadian sleep/wake cycle process	A behavioral process involved in the cycle from wakefulness through an orderly succession of sleep states and stages that occurs on an approximately 24 hour rhythm.		mondo.json		http://purl.obolibrary.org/obo/GO_0022410		
GO:0022412	biolink:NamedThing	cellular process involved in reproduction in multicellular organism	A process, occurring at the cellular level, that is involved in the reproductive function of a multicellular organism.		mondo.json	reproductive cellular process in multicellular organism	http://purl.obolibrary.org/obo/GO_0022412		
HGNC:29666	biolink:NamedThing	MTFMT			mondo.json		http://identifiers.org/hgnc/29666		
GO:0022414	biolink:NamedThing	reproductive process	A biological process that directly contributes to the process of producing new individuals by one or two organisms. The new individuals inherit some proportion of their genetic material from the parent or parents.		mondo.json	single organism reproductive process	http://purl.obolibrary.org/obo/GO_0022414		
HP:0008776	biolink:PhenotypicFeature	Abnormal renal artery morphology	Any structural abnormality of the renal artery.	UMLS:C4024624	mondo.json	Abnormality of the renal artery|Abnormal kidney artery	http://purl.obolibrary.org/obo/HP_0008776		
HGNC:30664	biolink:NamedThing	CLPB			mondo.json		http://identifiers.org/hgnc/30664		
CHEBI:35274	biolink:ChemicalSubstance	ammonium ion derivative	A derivative of ammonium, NH4(+), in which one (or more) of the hydrogens bonded to the nitrogen have been replaced with univalent organyl groups. The substituting carbon of the organyl group must not itself be directly attached to a heteroatom (thereby excluding protonated amides, hemiaminals, etc).		mondo.json	ammonium ion derivatives|azanium ion derivative|azanium ion derivatives	http://purl.obolibrary.org/obo/CHEBI_35274		
OBO:ECTO_0000530	biolink:NamedThing	exposure to pesticide	An exposure to pesticide.		mondo.json	exposure to pesticide	http://purl.obolibrary.org/obo/ECTO_0000530		
OBO:exo#interacts_with_an_exposure_receptor_via	biolink:NamedThing	interacts_with_an_exposure_receptor_via			mondo.json		http://purl.obolibrary.org/obo/exo#interacts_with_an_exposure_receptor_via		
OBO:ECTO_0000537	biolink:NamedThing	exposure to toxin	An exposure to toxin.		mondo.json	exposure to toxin	http://purl.obolibrary.org/obo/ECTO_0000537		
GO:0022402	biolink:NamedThing	cell cycle process	The cellular process that ensures successive accurate and complete genome replication and chromosome segregation.		mondo.json		http://purl.obolibrary.org/obo/GO_0022402		
HGNC:29679	biolink:NamedThing	PAM16			mondo.json		http://identifiers.org/hgnc/29679		
HGNC:29673	biolink:NamedThing	MFAP5			mondo.json		http://identifiers.org/hgnc/29673		
GO:0009450	biolink:NamedThing	gamma-aminobutyric acid catabolic process	The chemical reactions and pathways resulting in the breakdown of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms.		mondo.json	gamma-aminobutyric acid degradation|GABA catabolism|GABA catabolic process|4-aminobutanoate catabolism|4-aminobutyrate catabolism|gamma-aminobutyric acid breakdown|gamma-aminobutyric acid catabolism|4-aminobutyrate catabolic process|4-aminobutanoate catabolic process	http://purl.obolibrary.org/obo/GO_0009450		
HGNC:29670	biolink:NamedThing	GNPTAB			mondo.json		http://identifiers.org/hgnc/29670		
GO:0009448	biolink:NamedThing	gamma-aminobutyric acid metabolic process	The chemical reactions and pathways involving gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms.		mondo.json	4-aminobutanoate metabolism|GABA metabolic process|4-aminobutyrate metabolism|gamma-aminobutyric acid metabolism|4-aminobutyrate metabolic process|GABA metabolism|4-aminobutanoate metabolic process	http://purl.obolibrary.org/obo/GO_0009448		
MONDO:0054794	biolink:Disease	hydrocephalus, congenital, 3, with brain anomalies		OMIM:617967	mondo.json	hydrocephalus, nonsyndromic, autosomal recessive 3, formerly|hydrocephalus, nonsyndromic, autosomal recessive 3|hydrocephalus, CONGENITAL, 3, with brain anomalies|HYC3	http://purl.obolibrary.org/obo/MONDO_0054794	https://omim.org/entry/617967	
GO:0022404	biolink:NamedThing	molting cycle process	A multicellular organismal process involved in the periodic casting off and regeneration of an outer covering of cuticle, feathers, hair, horns, skin.		mondo.json		http://purl.obolibrary.org/obo/GO_0022404		
HGNC:17697	biolink:NamedThing	SARS2			mondo.json		http://identifiers.org/hgnc/17697		
GO:0022406	biolink:NamedThing	membrane docking	The initial attachment of a membrane or protein to a target membrane. Docking requires only that the proteins come close enough to interact and adhere.		mondo.json		http://purl.obolibrary.org/obo/GO_0022406		
GO:0022405	biolink:NamedThing	hair cycle process	A multicellular organismal process involved in the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair; one of the collection or mass of filaments growing from the skin of an animal, and forming a covering for a part of the head or for any part or the whole of the body.		mondo.json		http://purl.obolibrary.org/obo/GO_0022405		
MONDO:0054791	biolink:Disease	leukodystrophy, hypomyelinating, 16		UMLS:CN244907|OMIM:617964	mondo.json	leukodystrophy, hypomyelinating, 16|HLD16	http://purl.obolibrary.org/obo/MONDO_0054791	UMLS:CN244907|https://omim.org/entry/617964	
GO:0022408	biolink:NamedThing	negative regulation of cell-cell adhesion	Any process that stops, prevents or reduces the rate or extent of cell adhesion to another cell.		mondo.json	down regulation of cell-cell adhesion|inhibition of cell-cell adhesion|down-regulation of cell-cell adhesion|downregulation of cell-cell adhesion	http://purl.obolibrary.org/obo/GO_0022408		
HGNC:30650	biolink:NamedThing	STRA6			mondo.json		http://identifiers.org/hgnc/30650		
GO:0022407	biolink:NamedThing	regulation of cell-cell adhesion	Any process that modulates the frequency, rate or extent of attachment of a cell to another cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0022407		
OBO:ECTO_0000544	biolink:NamedThing	exposure to antimicrobial agent	An exposure to antimicrobial agent.		mondo.json	exposure to antimicrobial agent	http://purl.obolibrary.org/obo/ECTO_0000544		
GO:0022409	biolink:NamedThing	positive regulation of cell-cell adhesion	Any process that activates or increases the rate or extent of cell adhesion to another cell.		mondo.json	activation of cell-cell adhesion|upregulation of cell-cell adhesion|up regulation of cell-cell adhesion|stimulation of cell-cell adhesion|up-regulation of cell-cell adhesion	http://purl.obolibrary.org/obo/GO_0022409		
OBO:ECTO_0000543	biolink:NamedThing	exposure to molecular messenger	An exposure to molecular messenger.		mondo.json	exposure to molecular messenger	http://purl.obolibrary.org/obo/ECTO_0000543		
MONDO:0030886	biolink:Disease	holoprosencephaly 14		OMIM:619895	mondo.json	holoprosencephaly 14|HPE14	http://purl.obolibrary.org/obo/MONDO_0030886	https://omim.org/entry/619895	
MONDO:0003267	biolink:Disease	obsolete myxopapillary ependymoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003267		
MONDO:0003268	biolink:Disease	mixed glioma	A tumor composed of two or more glial cell types (astrocytes, ependymal cells, and oligodendrocytes).	SCTID:443937008|NCIT:C3903|DOID:5076|UMLS:C0259783|ICDO:9382/3	mondo.json	mixed glial tumor|glioma, mixed|mixed glioma|glioma, mixed, malignant|mixed gliomas|mixed neuroglial tumor|mixed neuroglial neoplasm|mixed glial neoplasm|mixed glioma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003268	NCIT:C3903|http://identifiers.org/snomedct/443937008|DOID:5076|UMLS:C0259783	
MONDO:0030885	biolink:Disease	amyotrophic lateral sclerosis 26 with or without frontotemporal dementia		OMIM:619133	mondo.json	ALS26	http://purl.obolibrary.org/obo/MONDO_0030885	https://omim.org/entry/619133	
MONDO:0003269	biolink:Disease	obsolete subependymal giant cell astrocytoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003269		
MONDO:0030887	biolink:Disease	cardiomyopathy, dilated, 2G		OMIM:619897	mondo.json	CMD2G|cardiomyopathy, dilated, 2G	http://purl.obolibrary.org/obo/MONDO_0030887	https://omim.org/entry/619897	
MONDO:0003263	biolink:Disease	childhood cerebellar neoplasm	A neoplasm that affects the cerebellum and occurs during childhood.	NCIT:C5970|DOID:5059|UMLS:C1332959	mondo.json	pediatric cerebellar tumor|childhood neoplasm of cerebellum|childhood neoplasm of the cerebellum|pediatric tumor of the cerebellum|childhood cerebellar neoplasm|childhood cerebellar tumors|pediatric tumor of cerebellum|pediatric neoplasm of cerebellum|childhood cerebellar tumor|pediatric neoplasm of the cerebellum|childhood tumor of cerebellum|childhood tumor of the cerebellum|childhood cerebellar neoplasms|pediatric cerebellar neoplasm	http://purl.obolibrary.org/obo/MONDO_0003263	NCIT:C5970|DOID:5059|UMLS:C1332959	
MONDO:0003264	biolink:Disease	basosquamous carcinoma	A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases.	DOID:5063|NCIT:C2922|MESH:D002281|ICDO:8094/3|UMLS:C0007118|SCTID:254702000|EFO:1000529	mondo.json	basosquamous tumor, malignant|Basisquamous cell carcinoma|skin mixed basal and squamous cell carcinoma|basosquamous carcinoma|metatypical carcinoma (morphologic abnormality)|basosquamous cell carcinoma|metatypical carcinoma|skin basosquamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003264	http://identifiers.org/mesh/D002281|DOID:5063|NCIT:C2922|UMLS:C0007118	
MONDO:0003265	biolink:Disease	adjustment disorder	A category of psychiatric disorders which are characterized by emotional or behavioral symptoms that develop within 3 months of a stressor and do not persist for more than an additional 6 months after the stressor is no longer present.	SCTID:17226007|ICD9:309.89|DOID:507|NCIT:C92191|MESH:D000275|ICD9:309.9|ICD9:309	mondo.json	disorder, adjustment|adjustment reaction|disorders, reactive|disorder, reactive|adjustment disease|adaptation reaction|adjustment disorder|disorders, adjustment	http://purl.obolibrary.org/obo/MONDO_0003265	http://identifiers.org/snomedct/17226007|http://identifiers.org/mesh/D000275|DOID:507|NCIT:C92191	
MONDO:0003266	biolink:Disease	ependymal tumor	A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma. (WHO)	UMLS:C1333407|EFO:1000027|UMLS:CN203416|ONCOTREE:EPMT|NCIT:C6770|OMIM:137800|Orphanet:301	mondo.json	ependymal tumor|ependymomal tumor|ependymal neoplasm|ependymal tumors	http://purl.obolibrary.org/obo/MONDO_0003266	UMLS:CN203416|UMLS:C1333407|Orphanet:301|NCIT:C6770	ordo_group_of_disorders|disease_grouping
MONDO:0003260	biolink:Disease	adult cerebellar neoplasm	A cerebellar neoplasm that occurs in an adult.	NCIT:C5968|DOID:5056|UMLS:C1332197	mondo.json	adult cerebellar tumor|tumor of the adult cerebellum|adult cerebellar neoplasms|cerebellar neoplasm of adults|adult cerebellar neoplasm|tumor of adult cerebellum|neoplasm of adult cerebellum|adult cerebellar tumors|neoplasm of the adult cerebellum	http://purl.obolibrary.org/obo/MONDO_0003260	DOID:5056|UMLS:C1332197|NCIT:C5968	
MONDO:0003261	biolink:Disease	papillary meningioma of the cerebellum	A papillary meningioma that affects the cerebellum.	UMLS:C1332902|NCIT:C5270|DOID:5057	mondo.json	papillary meningioma of the cerebellum|papillary meningioma of cerebellum|cerebellar papillary meningioma|cerebellum papillary meningioma	http://purl.obolibrary.org/obo/MONDO_0003261	DOID:5057|UMLS:C1332902|NCIT:C5270	
MONDO:0003262	biolink:Disease	rhabdoid meningioma	A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets.	UMLS:C0259786|NCIT:C6909|ONCOTREE:RHM|DOID:5058	mondo.json	meningioma, rhabdoid|rhabdoid meningioma|papillary meningioma|papillary meningioma (morphologic abnormality)|meningioma, rhabdoid (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003262	DOID:5058|UMLS:C0259786|NCIT:C6909	
MONDO:0015259	biolink:Disease	brachydactyly-mesomelia-intellectual disability-heart defects syndrome	Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).	GARD:0005036|UMLS:CN199165|Orphanet:1277	mondo.json	Stratton-Garcia-Young syndrome|brachydactyly mesomelia mental retardation aortic dilatation mitral valve prolapse and characteristic face|brachydactyly mesomelia intellectual disability aortic dilatation mitral valve prolapse and characteristic face	http://purl.obolibrary.org/obo/MONDO_0015259	Orphanet:1277|UMLS:CN199165	gard_rare|ordo_malformation_syndrome
MONDO:0015258	biolink:Disease	obsolete botulism			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015258		
MONDO:0015257	biolink:Disease	sino-auricular heart block		Orphanet:1260|UMLS:CN199152	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015257	Orphanet:1260|UMLS:CN199152	ordo_disease
MONDO:0015252	biolink:Disease	severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome		GARD:0003482|Orphanet:1236|UMLS:CN237422	mondo.json	intellectual disability - athetosis - microphthalmia|severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome|BD syndrome|intellectual disability-athetosis-microphthalmia syndrome	http://purl.obolibrary.org/obo/MONDO_0015252	Orphanet:1236|UMLS:CN237422	gard_rare|ordo_malformation_syndrome
MONDO:0054860	biolink:Disease	hearing loss, autosomal recessive 110		OMIM:618094|DOID:0111644	mondo.json	DFNB110|deafness, autosomal recessive 110	http://purl.obolibrary.org/obo/MONDO_0054860	DOID:0111644|https://omim.org/entry/618094	
MONDO:0030893	biolink:Disease	leukoencephalopathy, progressive, infantile-onset, with or without deafness		OMIM:619147	mondo.json	LEPID	http://purl.obolibrary.org/obo/MONDO_0030893	https://omim.org/entry/619147	
HGNC:30764	biolink:NamedThing	TRAIP			mondo.json		http://identifiers.org/hgnc/30764		
MONDO:0015251	biolink:Disease	obsolete balantidiasis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015251		
NCBITaxon:34625	biolink:OrganismalEntity	Hyalomma		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_34625		
HGNC:30765	biolink:NamedThing	TNIK			mondo.json		http://identifiers.org/hgnc/30765		
MONDO:0030895	biolink:Disease	nephrotic syndrome, type 22		OMIM:619155	mondo.json	nephrotic syndrome, type 22|NPHS22	http://purl.obolibrary.org/obo/MONDO_0030895	https://omim.org/entry/619155	
MONDO:0015250	biolink:Disease	spinal atrophy-ophthalmoplegia-pyramidal syndrome	Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.	Orphanet:1217|MESH:C535625|GARD:0004942|UMLS:C2930956	mondo.json	spinal atrophy ophthalmoplegia pyramidal syndrome|Hamano Tsukamoto syndrome|Hamano-Tsukamoto syndrome|infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms	http://purl.obolibrary.org/obo/MONDO_0015250	UMLS:C2930956|Orphanet:1217|http://identifiers.org/mesh/C535625	gard_rare|ordo_disease
NCBITaxon:34622	biolink:OrganismalEntity	Haemaphysalis		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_34622		
MONDO:0030894	biolink:Disease	AMED syndrome, digenic		OMIM:619151|Orphanet:611216	mondo.json	aplastic anemia-intellectual disability-dwarfism syndrome|AMEDS|AMED syndrome, digenic|bone marrow failure syndrome 7, digenic|AMeD syndrome	http://purl.obolibrary.org/obo/MONDO_0030894	https://omim.org/entry/619151|Orphanet:611216	ordo_disorder
MONDO:0015256	biolink:Disease	blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome		Orphanet:1258	mondo.json	Rodini-Richieri Costa syndrome	http://purl.obolibrary.org/obo/MONDO_0015256	Orphanet:1258	ordo_malformation_syndrome
NCBITaxon:34620	biolink:OrganismalEntity	Dermacentor andersoni		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_34620		
HGNC:30760	biolink:NamedThing	TMEM165			mondo.json		http://identifiers.org/hgnc/30760		
NCBITaxon:34621	biolink:OrganismalEntity	Dermacentor variabilis		GC_ID:1	mondo.json	American dog tick	http://purl.obolibrary.org/obo/NCBITaxon_34621		
MONDO:0015255	biolink:Disease	blepharophimosis-radioulnar synostosis syndrome		GARD:0003057|UMLS:C2931162|MESH:C536292|Orphanet:1256	mondo.json	Jorgenson Lenz syndrome|mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis|ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature/dwarfism|blepharophimosis radioulnar synostosis|Jorgenson-Lenz syndrome	http://purl.obolibrary.org/obo/MONDO_0015255	Orphanet:1256|http://identifiers.org/mesh/C536292|UMLS:C2931162	ordo_malformation_syndrome
MONDO:0030891	biolink:Disease	intellectual developmental disorder, autosomal dominant 66		OMIM:619910	mondo.json	intellectual developmental disorder, autosomal dominant 66|MRD66|mental retardation, autosomal dominant 66	http://purl.obolibrary.org/obo/MONDO_0030891	https://omim.org/entry/619910	
MONDO:0015254	biolink:Disease	schistosomiasis	An infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic.	ICD9:120.8|GARD:0009687|NCIT:C35000|ICD9:120.9|MESH:D012552|MedDRA:10039603|Orphanet:1247|EFO:1001475|DOID:1395|SCTID:10087007|UMLS:C0036323	mondo.json	schistosomiasis|Bilharzia|bilharziasis|snail fever	http://purl.obolibrary.org/obo/MONDO_0015254	NCIT:C35000|http://identifiers.org/snomedct/10087007|Orphanet:1247|http://identifiers.org/mesh/D012552|UMLS:C0036323|DOID:1395	ordo_disease
MONDO:0054862	biolink:Disease	premature ovarian failure 15		OMIM:618096	mondo.json	premature ovarian failure 15|POF15	http://purl.obolibrary.org/obo/MONDO_0054862	https://omim.org/entry/618096	
MONDO:0015253	biolink:Disease	Diamond-Blackfan anemia	A congenital aregenerative and often macrocytic anemia with erythroblastopenia.	NCIT:C61236|Orphanet:124|DOID:1339|UMLS:C1260899|GARD:0006274|UMLS:C0265265|OMIMPS:105650|MedDRA:10062989|SCTID:88854002|MESH:D029503	mondo.json	Red cell aplasia, pure hereditary|congenital pure red cell aplasia|DBA|inherited erythroblastopenia|congenital hypoplastic anemia, Blackfan-Diamond type|Blackfan-Diamond anemia|chronic constitutional pure red cell anaemia|anemia congenital erythroid hypoplastic|Blackfan - Diamond syndrome|Diamond-Blackfan anemia|BDS|Aase syndrome|aregenerative anemia chronic congenital|congenital PRCA|erythrogenesis imperfecta|Blackfan Diamond syndrome|Aase-Smith II syndrome|congenital hypoplastic anemia|anemia Diamond Blackfan type	http://purl.obolibrary.org/obo/MONDO_0015253	http://identifiers.org/mesh/D029503|UMLS:C1260899|http://identifiers.org/snomedct/88854002|UMLS:C0265265|Orphanet:124|https://omim.org/phenotypicSeries/PS105650|NCIT:C61236|DOID:1339	clingen|ordo_disease
MONDO:0054861	biolink:Disease	intellectual disability, autosomal recessive 63		OMIM:618095	mondo.json	mental retardation, autosomal recessive 63|MRT63|intellectual disability, autosomal recessive 63	http://purl.obolibrary.org/obo/MONDO_0054861	https://omim.org/entry/618095	
MONDO:0030890	biolink:Disease	pontocerebellar hypoplasia, IIA 17		OMIM:619909	mondo.json	pontocerebellar hypoplasia, IIA 17|PCH17	http://purl.obolibrary.org/obo/MONDO_0030890	https://omim.org/entry/619909	
MONDO:0054846	biolink:Disease	epilepsy, familial adult myoclonic, 6		OMIM:618074|DOID:0111696|UMLS:CN252655	mondo.json	epilepsy, FAMILIAL ADULT myoclonic, 6|benign Adult Familial myoclonic epilepsy 6|FAME6|cortical myoclonic tremor with epilepsy, Familial, 6	http://purl.obolibrary.org/obo/MONDO_0054846	https://omim.org/entry/618074|DOID:0111696|UMLS:CN252655	
MONDO:0054845	biolink:Disease	developmental and epileptic encephalopathy, 66		OMIM:618067|DOID:0080446|UMLS:CN252658	mondo.json	developmental and epileptic encephalopathy 66|DEE66|EIEE66|epileptic encephalopathy, early infantile, 66	http://purl.obolibrary.org/obo/MONDO_0054845	https://omim.org/entry/618067|DOID:0080446|UMLS:CN252658	
MONDO:0054844	biolink:Disease	pontocerebellar hypoplasia, type 1D		OMIM:618065|UMLS:CN252648	mondo.json	pontocerebellar hypoplasia, type 1D|PCH1D	http://purl.obolibrary.org/obo/MONDO_0054844	https://omim.org/entry/618065|UMLS:CN252648	
MONDO:0054843	biolink:Disease	ciliary dyskinesia, primary, 38		UMLS:CN252651|OMIM:618063	mondo.json	CILD38|ciliary dyskinesia, Primary, 38, with or without situs inversus|ciliary dyskinesia, PRIMARY, 38	http://purl.obolibrary.org/obo/MONDO_0054843	https://omim.org/entry/618063|UMLS:CN252651	
MONDO:0003278	biolink:Disease	inner ear cancer	A malignant neoplasm involving the internal ear.	UMLS:C1512779|DOID:5102|NCIT:C39784	mondo.json	cancer of internal ear|internal ear cancer|malignant neoplasm of internal ear|malignant internal ear neoplasm	http://purl.obolibrary.org/obo/MONDO_0003278	DOID:5102	
MONDO:0030897	biolink:Disease	Lessel-Kreienkamp syndrome		OMIM:619149	mondo.json	LESKRES	http://purl.obolibrary.org/obo/MONDO_0030897	https://omim.org/entry/619149	
MONDO:0003279	biolink:Disease	testicular infarct	Ischemic necrosis of the testis usually caused by torsion of the spermatic cord, trauma, or severe epididymo-orchitis.	UMLS:C0392041|SCTID:33793000|DOID:5104|NCIT:C27617	mondo.json	infarction of testis|testicular infarction	http://purl.obolibrary.org/obo/MONDO_0003279	UMLS:C0392041|DOID:5104|http://identifiers.org/snomedct/33793000|NCIT:C27617	
MONDO:0054849	biolink:Disease	inflammatory bowel disease 29		OMIM:618077	mondo.json	inflammatory bowel disease 29|IBD29	http://purl.obolibrary.org/obo/MONDO_0054849	https://omim.org/entry/618077	
MONDO:0030896	biolink:Disease	chromosome 13q33-q34 deletion syndrome		OMIM:619148	mondo.json		http://purl.obolibrary.org/obo/MONDO_0030896	https://omim.org/entry/619148	
MONDO:0030899	biolink:Disease	oculocutaneous albinism type 8		Orphanet:597733|OMIM:619165	mondo.json	oculocutaneous albinism, type VIII|oculocutaneous albinism, type 8|OCA8	http://purl.obolibrary.org/obo/MONDO_0030899	Orphanet:597733|https://omim.org/entry/619165	
MONDO:0054847	biolink:Disease	epilepsy, familial adult myoclonic, 7		DOID:0111694|UMLS:CN252654|OMIM:618075	mondo.json	epilepsy, FAMILIAL ADULT myoclonic, 7|benign Adult Familial myoclonic epilepsy 7|FAME7|cortical myoclonic tremor with epilepsy, Familial, 7	http://purl.obolibrary.org/obo/MONDO_0054847	https://omim.org/entry/618075|DOID:0111694|UMLS:CN252654	
MONDO:0030898	biolink:Disease	immunodeficiency 76	An autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood.	OMIM:619164	mondo.json	IMD76|immunodeficiency 76|immunodeficiency due to FCHO1 deficiency	http://purl.obolibrary.org/obo/MONDO_0030898	https://omim.org/entry/619164	
MONDO:0003274	biolink:Disease	thoracic cancer	A primary or metastatic malignant neoplasm affecting the tissues of the thorax.	ICD9:195.1|DOID:5093|SCTID:188361007|NCIT:C3576|UMLS:C0153661	mondo.json	thorax neoplasm|malignant neoplasm of thorax|malignant neoplasm of the thorax|cancer of thoracic segment of trunk|tumor of thorax|thoracic segment of trunk cancer|malignant tumor of thorax|malignant neoplasm of thoracic segment of trunk|thoracic tumor|malignant thoracic segment of trunk neoplasm|malignant tumor of the thorax|malignant thoracic neoplasm|malignant thoracic tumor|thorax cancer	http://purl.obolibrary.org/obo/MONDO_0003274	UMLS:C0153661|NCIT:C3576|DOID:5093|http://identifiers.org/snomedct/188361007	
MONDO:0003275	biolink:Disease	middle ear cancer	A malignant neoplasm involving the middle ear	NCIT:C4765|SCTID:363359008|DOID:5099	mondo.json	tumor of the middle ear|malignant neoplasm of middle ear|malignant middle ear neoplasm|malignant neoplasm of the middle Ear|malignant middle Ear tumor|cancer of middle ear|middle ear cancer|malignant tumor of middle Ear|malignant tumor of the middle Ear	http://purl.obolibrary.org/obo/MONDO_0003275	NCIT:C4765|DOID:5099|http://identifiers.org/snomedct/363359008	
MONDO:0003276	biolink:Disease	middle ear disorder	A disease involving the middle ear.	UMLS:C0271428|ICD10CM:H65-H75|DOID:5100|NCIT:C27065|SCTID:68996008	mondo.json	middle Ear disorder|middle ear disease or disorder|disorder of middle ear|disease or disorder of middle ear|disease of middle ear|middle ear disease	http://purl.obolibrary.org/obo/MONDO_0003276	http://identifiers.org/snomedct/68996008|UMLS:C0271428|DOID:5100|http://purl.bioontology.org/ontology/ICD10CM/H65-H75|NCIT:C27065	
MONDO:0003277	biolink:Disease	malignant ear neoplasm	A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear.	UMLS:C0751094|MESH:D004428|NCIT:C9337|DOID:5101|SCTID:443648003	mondo.json	cancer of ear|malignant tumor of ear|malignant neoplasm of the Ear|malignant neoplasm of Ear|malignant Ear tumor|malignant neoplasm of ear|ear cancer|malignant Ear neoplasm|auricular cancer|malignant ear neoplasm|malignant tumor of the Ear|malignant tumor of Ear	http://purl.obolibrary.org/obo/MONDO_0003277	http://identifiers.org/mesh/D004428|http://identifiers.org/snomedct/443648003|DOID:5101|NCIT:C9337|UMLS:C0751094	
MONDO:0003270	biolink:Disease	obsolete ganglioglioma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003270		
MONDO:0003271	biolink:Disease	iodine hypothyroidism		SCTID:190279008|DOID:5083|UMLS:C0154159|ICD9:244.2	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003271	DOID:5083|UMLS:C0154159|http://identifiers.org/snomedct/190279008	
MONDO:0003272	biolink:Disease	mixed epithelial stromal tumor		NCIT:C37265|UMLS:C1334602|DOID:5088	mondo.json	mixed epithelial stromal tumour	http://purl.obolibrary.org/obo/MONDO_0003272	DOID:5088	
MONDO:0003273	biolink:Disease	sternum cancer	A malignant neoplasm involving the sternum	DOID:5090|UMLS:C1382025|NCIT:C8408	mondo.json	malignant tumor of sternum|malignant neoplasm of sternum|malignant sternal tumor|malignant neoplasm of the sternum|sternum cancer|neoplasm of sternum|malignant sternum neoplasm|malignant sternal neoplasm|cancer of sternum|malignant tumor of the sternum	http://purl.obolibrary.org/obo/MONDO_0003273	DOID:5090|NCIT:C8408|UMLS:C1382025	
MONDO:0015249	biolink:Disease	mitral atresia disorder	A congenital heart defect characterized by the complete atresia of the mitral valve.	GARD:0003685|HP:0011560|ICD10CM:Q23.2|NCIT:C98992|Orphanet:1205|SCTID:23063005	mondo.json	mitral atresia|mitral valve atresia|congenital atresia of mitral valve|congenital mitral valve atresia	http://purl.obolibrary.org/obo/MONDO_0015249	NCIT:C98992|Orphanet:1205|http://identifiers.org/snomedct/23063005	ordo_morphological_anomaly
MONDO:0015248	biolink:Disease	ataxia-photosensitivity-short stature syndrome	Ataxia-photosensitivity-short stature syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.	Orphanet:1184|UMLS:CN237421	mondo.json	Fenton-Wilkinson-Toselano syndrome	http://purl.obolibrary.org/obo/MONDO_0015248	Orphanet:1184|UMLS:CN237421	ordo_malformation_syndrome
NCBITaxon:34619	biolink:OrganismalEntity	Dermacentor		GC_ID:1	mondo.json	Anocentor	http://purl.obolibrary.org/obo/NCBITaxon_34619		
MONDO:0015247	biolink:Disease	opsoclonus-myoclonus syndrome	Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.	MESH:D053578|Orphanet:1183|MedDRA:10053854|GARD:0010009|NCIT:C4686|UMLS:C0393626|SCTID:230350000|ICD9:379.59|EFO:1001383	mondo.json	dancing eye-dancing feet syndrome|paraneoplastic opsoclonus-myoclonus|opsoclonus-myoclonus-ataxia syndrome|Ataxo-opso-myoclonus syndrome|dancing eye syndrome|oma syndrome|POMA syndrome|Kinsbourne syndrome|opsoclonus myoclonus syndrome|paraneoplastic opsoclonus-myoclonus-ataxia syndrome|OMS	http://purl.obolibrary.org/obo/MONDO_0015247	UMLS:C0393626|NCIT:C4686|Orphanet:1183|http://identifiers.org/mesh/D053578|http://identifiers.org/snomedct/230350000	ordo_disease
MONDO:0015246	biolink:Disease	syndromic anorectal malformation	A anorectal malformation that is part of a larger syndrome.	Orphanet:117573|UMLS:CN226645	mondo.json	syndromic anorectal malformation|syndrome associated with anorectal malformation	http://purl.obolibrary.org/obo/MONDO_0015246	UMLS:CN226645|Orphanet:117573	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0015241	biolink:Disease	arthrogryposis-like syndrome	Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.	GARD:0003150|SCTID:702447002|Orphanet:1149|ICD9:719.89|GARD:0000783|OMIM:208200	mondo.json	Kuskokwim syndrome|arthrogryposis like disorder|Kuskokwim disease	http://purl.obolibrary.org/obo/MONDO_0015241	http://identifiers.org/snomedct/702447002|Orphanet:1149	ordo_malformation_syndrome|gard_rare
NCBITaxon:34613	biolink:OrganismalEntity	Ixodes ricinus		GC_ID:1	mondo.json	castor bean tick	http://purl.obolibrary.org/obo/NCBITaxon_34613		
HGNC:17797	biolink:NamedThing	MAP3K20			mondo.json		http://identifiers.org/hgnc/17797		
MONDO:0015240	biolink:Disease	digitotalar dysmorphism	Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis.	Orphanet:1146|UMLS:C1852085|GARD:0000787|MESH:C565097|UMLS:CN197602|UMLS:C0220662	mondo.json	distal arthrogryposis type 1|arthrogryposis multiplex congenita distal type 1|DA1|distal arthrogryposis type 1A (sub-type)|AMCD1|digitotalar dysmorphism|distal arthrogryposis type 1B (sub-type)	http://purl.obolibrary.org/obo/MONDO_0015240	UMLS:CN197602|Orphanet:1146|http://identifiers.org/mesh/C565097|UMLS:C1852085|UMLS:C0220662	gard_rare|ordo_malformation_syndrome
NCBITaxon:129726	biolink:OrganismalEntity	Pseudocowpox virus		GC_ID:1	mondo.json	Pseudocowpoxvirus	http://purl.obolibrary.org/obo/NCBITaxon_129726		
MONDO:0015245	biolink:Disease	obsolete rare intestinal disease	OBSOLETE. Rare intestinal disease.	Orphanet:117569	mondo.json	rare intestinal disease	http://purl.obolibrary.org/obo/MONDO_0015245	Orphanet:117569	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0015244	biolink:Disease	autosomal recessive cerebellar ataxia	Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.	Orphanet:1172|UMLS:CN226644|DOID:0050950|OMIMPS:213200	mondo.json	arca|cerebellar ataxia, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0015244	https://omim.org/phenotypicSeries/PS213200|Orphanet:1172|UMLS:CN226644|DOID:0050950	ordo_group_of_disorders|disease_grouping
MONDO:0054852	biolink:Disease	peeling skin syndrome 6		OMIM:618084	mondo.json	PSS6|peeling skin syndrome 6	http://purl.obolibrary.org/obo/MONDO_0054852	https://omim.org/entry/618084	
MONDO:0015243	biolink:Disease	allergic bronchopulmonary aspergillosis	Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates.	ICD10EXP:J99.8*|MedDRA:10006474|ICD10EXP:B44.1+|NCIT:C84547|ICD9:518.6|GARD:0000602|EFO:0007140|SCTID:37981002|UMLS:C0004031|ICD10CM:B44.81|Orphanet:1164|OMIM:103920|DOID:13166|MESH:D001229	mondo.json	Hinson-Pepys disease|aspergillosis, allergic bronchopulmonary|allergic bronchopulmonary aspergillosis, familial|pulmonary aspergillus disease|allergic aspergillosis|allergic bronchopulmonary mycosis|ABPA	http://purl.obolibrary.org/obo/MONDO_0015243	UMLS:C0004031|NCIT:C84547|http://purl.bioontology.org/ontology/ICD10CM/B44.81|http://identifiers.org/mesh/D001229|Orphanet:1164|http://identifiers.org/snomedct/37981002|DOID:13166|https://omim.org/entry/103920	ordo_disease|gard_rare
MONDO:0054850	biolink:Disease	ovarian dysgenesis 6		DOID:0080498|OMIM:618078	mondo.json	ovarian dysgenesis 6|ODG6	http://purl.obolibrary.org/obo/MONDO_0054850	DOID:0080498|https://omim.org/entry/618078	
MONDO:0015242	biolink:Disease	obsolete aspergillosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015242		
MONDO:0003249	biolink:Disease	pineal gland cancer	Abnormal malignant growth of the cells that comprise the pineal parenchyma.	NCIT:C3573|NCIT:C6965|DOID:5032|UMLS:C0031941|ICD9:194.4|SCTID:363483004	mondo.json	malignant neoplasm of pineal body|malignant tumor of the pineal gland|pineal body cancer|tumor of the pineal region|malignant pineal area tumor|malignant pineal body neoplasm|malignant pineal region tumor|malignant pineal region neoplasm|malignant neoplasm of pineal gland|pinealoma|malignant neoplasm of the pineal gland|malignant pineal gland tumor|malignant tumor of pineal gland|cancer of pineal body|malignant pineal gland neoplasm|neoplasm of the pineal region|pineocytic tumor|malignant pineal area neoplasm	http://purl.obolibrary.org/obo/MONDO_0003249	NCIT:C3573|DOID:5032|http://identifiers.org/snomedct/363483004	
GO:0071383	biolink:NamedThing	cellular response to steroid hormone stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a steroid hormone stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0071383		
MONDO:0003245	biolink:Disease	aflatoxin-related hepatocellular carcinoma	A hepatocellular carcinoma that develops following exposure to aflatoxin.	DOID:5022|NCIT:C27922|UMLS:C1332222	mondo.json	aflatoxins-related hepatocellular cancer|aflatoxins-related hepatocellular carcinoma	http://purl.obolibrary.org/obo/MONDO_0003245	NCIT:C27922|DOID:5022|UMLS:C1332222	
MONDO:0003246	biolink:Disease	sclerosing hepatic carcinoma	An uncommon type of hepatocelluar carcinoma, morphologically characterized by significant fibrosis around the sinusoid-like spaces and atrophy of the tumor trabeculae.	DOID:5026|ICDO:8172/3|UMLS:C1266018|NCIT:C27388	mondo.json	sclerosing hepatic carcinoma|scirrhous hepatocellular cancer|sclerosing hepatocellular carcinoma|scirrhous hepatocellular carcinoma	http://purl.obolibrary.org/obo/MONDO_0003246	NCIT:C27388|DOID:5026|UMLS:C1266018	
MONDO:0003247	biolink:Disease	obsolete pineal parenchymal tumor of intermediate differentiation			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003247		
MONDO:0003248	biolink:Disease	adult pineal parenchymal tumor	A pineal parenchymal cell neoplasm (pineocytoma or pineoblastoma) occurring in adults.	DOID:5031|NCIT:C8273|UMLS:C0280794	mondo.json	parenchymal tumor of adult pineal gland|pineal parenchymal cell neoplasm of adults|parenchymal tumor of the adult pineal gland|parenchymal neoplasm of adult pineal gland|parenchymal neoplasm of the adult pineal gland|adult pineal parenchymal cell neoplasm|adult pineal gland neoplasm|adult pineal parenchymal cell tumor|adult pineal gland tumor|adult pineal parenchymal tumor|adult pineal parenchymal neoplasm|pineal parenchymal cell tumor	http://purl.obolibrary.org/obo/MONDO_0003248	UMLS:C0280794|DOID:5031|NCIT:C8273	
MONDO:0003241	biolink:Disease	central nervous system hemangioma	A hemangioma arising from the brain and spinal cord.	UMLS:C1333957|NCIT:C7004|DOID:501	mondo.json	hemangioma of the CNS|hemangioma of CNS|hemangioma of central nervous system|hemangioma of the central nervous system|central nervous system hemangioma	http://purl.obolibrary.org/obo/MONDO_0003241	UMLS:C1333957|DOID:501|NCIT:C7004	
MONDO:0003242	biolink:Disease	obsolete fibrolamellar carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003242		
MONDO:0003243	biolink:Disease	hepatocellular clear cell carcinoma	A morphologic variant of hepatocellular carcinoma characterized by the presence of clear cells.	UMLS:C1333067|NCIT:C5754|ICDO:8174/3|DOID:5016	mondo.json	clear cell hepatocellular cancer|hepatocellular clear cell carcinoma|clear cell hepatocellular carcinoma|clear cell carcinoma of liver cells|liver cell clear cell carcinoma|clear cell carcinoma of the liver cells	http://purl.obolibrary.org/obo/MONDO_0003243	NCIT:C5754|UMLS:C1333067|DOID:5016	
MONDO:0003244	biolink:Disease	central nervous system mesenchymal non-meningothelial tumor	A benign or malignant mesenchymal neoplasm originating in the central nervous system or the meninges and showing fibrous, fibrohistiocytic, adipose, myoid, endothelial, chondroid or osseous, but not meningothelial differentiation. Depending on the histological features and clinical behavior of these neoplasms, their grade ranges from benign (WHO grade I) to highly malignant (WHO grade IV). (Adapted from WHO)	NCIT:C5449|UMLS:C1332893|DOID:502	mondo.json	soft tissue tumor of the CNS|soft tissue tumor of CNS|CNS soft tissue neoplasm|central nervous system soft tissue neoplasm|soft tissue neoplasm of the CNS|soft tissue neoplasm of CNS|mesenchymal, non-meningothelial tumor of central nervous system|central nervous system soft tissue tumor|CNS soft tissue tumor|mesenchymal, non-meningothelial tumor of the CNS|non-meningothelial mesenchymal tumor|mesenchymal, non-meningothelial tumor of CNS|mesenchymal non-meningothelial tumor of the central nervous system|soft tissue neoplasm of central nervous system|central nervous system mesenchymal, non-meningothelial neoplasm|soft tissue neoplasm of the central nervous system|soft tissue tumor of central nervous system|soft tissue tumor of the central nervous system|central nervous system mesenchymal, non-meningothelial tumor	http://purl.obolibrary.org/obo/MONDO_0003244	NCIT:C5449|DOID:502|UMLS:C1332893	
MONDO:0003240	biolink:Disease	thyroid gland disorder	A disease involving the thyroid gland.	EFO:1000627|ICD10CM:E00-E07|MESH:D013959|DOID:50|Wikipedia:Thyroid_disease|ICD9:246.8|ICD9:240-246.99|SCTID:14304000|UMLS:C0040128|ICD9:246.9|NCIT:C26893	mondo.json	thyroid gland disease or disorder|disease of thyroid gland|thyroid gland diseases|thyroid disease|disorder of thyroid gland|thyroid gland disease|thyroid gland disorders|thyroid gland disorder|disease or disorder of thyroid gland	http://purl.obolibrary.org/obo/MONDO_0003240	NCIT:C26893|DOID:50|http://purl.bioontology.org/ontology/ICD10CM/E00-E07|http://identifiers.org/mesh/D013959|UMLS:C0040128|http://identifiers.org/snomedct/14304000	
MONDO:0015238	biolink:Disease	arrhinia-choanal atresia-microphthalmia syndrome	Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	OMIM:603457|GARD:0008755|Orphanet:1135	mondo.json	congenital absence of nose and anterior nasopharynx|arhinia choanal atresia microphthalmia|Bosma arhinia microphthalmia syndrome|Bosma Henkin Christiansen syndrome	http://purl.obolibrary.org/obo/MONDO_0015238	Orphanet:1135	ordo_malformation_syndrome|gard_rare
MONDO:0015237	biolink:Disease	arrhinia	Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.	GARD:0000364|ICD9:748.1|SCTID:111317000|MESH:C537438|Orphanet:1134	mondo.json	Nose agenesia|isolated nose agenesis|congenital absence of the nose|isolated arrhinia|Nose agenesis	http://purl.obolibrary.org/obo/MONDO_0015237	Orphanet:1134|http://identifiers.org/mesh/C537438|http://identifiers.org/snomedct/111317000	ordo_malformation_syndrome|gard_rare
MONDO:0015236	biolink:Disease	aortic arch defects	Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of tihs system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiolgogical abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageeal compression, and abnormal blood flow patteren.	Orphanet:1132|GARD:0000741	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015236	Orphanet:1132	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0015235	biolink:Disease	arachnodactyly-intellectual disability-dysmorphism syndrome	Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients.	Orphanet:1130|GARD:0000764|UMLS:CN197590|SCTID:720502000	mondo.json	De Die-Smulders-Vles-Fryns syndrome|arachnodactyly - intellectual disability - dysmorphism	http://purl.obolibrary.org/obo/MONDO_0015235	UMLS:CN197590|Orphanet:1130|http://identifiers.org/snomedct/720502000	ordo_malformation_syndrome
GO:0034399	biolink:NamedThing	nuclear periphery	The portion of the nuclear lumen proximal to the inner nuclear membrane.		mondo.json		http://purl.obolibrary.org/obo/GO_0034399		
NCBITaxon:34609	biolink:OrganismalEntity	Amblyomma maculatum		GC_ID:1	mondo.json	Gulf Coast tick	http://purl.obolibrary.org/obo/NCBITaxon_34609		
MONDO:0017897	biolink:Disease	obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency	OBSOLETE. Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency.	Orphanet:319535|UMLS:CN203953	mondo.json	mendelian susceptibility to mycobacterial diseases due to a complete deficiency, autosomal recessive|autosomal recessive MSMD due to a complete deficiency	http://purl.obolibrary.org/obo/MONDO_0017897	Orphanet:319535|UMLS:CN203953	ordo_group_of_disorders
HGNC:17768	biolink:NamedThing	TDP2			mondo.json		http://identifiers.org/hgnc/17768		
MONDO:0017898	biolink:Disease	obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency	OBSOLETE. Autosomal recessive form of mendelian susceptibility to mycobacterial diseases due to a partial deficiency.	UMLS:CN203954|Orphanet:319539	mondo.json	autosomal recessive MSMD due to a partial deficiency|mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0017898	Orphanet:319539|UMLS:CN203954	ordo_group_of_disorders
NCBITaxon:34607	biolink:OrganismalEntity	Amblyomma cajennense		GC_ID:1	mondo.json	Cayenne tick|Acarus cajennensis	http://purl.obolibrary.org/obo/NCBITaxon_34607		
MONDO:0017899	biolink:Disease	obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency	OBSOLETE. Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8).	Orphanet:319543|UMLS:CN203955	mondo.json	mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal dominant|autosomal dominant MSMD due to a partial deficiency	http://purl.obolibrary.org/obo/MONDO_0017899	Orphanet:319543|UMLS:CN203955	ordo_group_of_disorders
MONDO:0015239	biolink:Disease	abnormal origin of the pulmonary artery		SCTID:68092007|Orphanet:1138	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015239	http://identifiers.org/snomedct/68092007|Orphanet:1138	disease_grouping|ordo_group_of_disorders
MONDO:0015230	biolink:Disease	anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome	Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992.	GARD:0000717|SCTID:720495005|UMLS:CN197570|Orphanet:1101	mondo.json	Cassia Stocco dos Santos syndrome|anophthalmia megalocornea cardiopathy skeletal anomalies	http://purl.obolibrary.org/obo/MONDO_0015230	UMLS:CN197570|Orphanet:1101|http://identifiers.org/snomedct/720495005	gard_rare|ordo_malformation_syndrome
MONDO:0017893	biolink:Disease	inherited acute myeloid leukemia	An instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome.	UMLS:CN203946|Orphanet:319465|SCTID:764940002	mondo.json	familial AML|Pure familial acute myeloid leukemia|inherited AML|Pure familial AML|hereditary acute myeloid leukemia	http://purl.obolibrary.org/obo/MONDO_0017893	Orphanet:319465|UMLS:CN203946|http://identifiers.org/snomedct/764940002	ordo_disease
MONDO:0017894	biolink:Disease	acute myeloid leukemia with CEBPA somatic mutations	Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).	UMLS:C2826178|SCTID:764855007|Orphanet:319480|NCIT:C82433	mondo.json	AML with mutated CEBPA|acute myeloid Leukemia with mutated CEBPA|non-familial acute myeloid leukemia with mutated CEBPA|AML with CEBPA somatic mutations|acute myeloid Leukemia with non-germline mutated CEBPA	http://purl.obolibrary.org/obo/MONDO_0017894	Orphanet:319480|http://identifiers.org/snomedct/764855007|NCIT:C82433|UMLS:C2826178	ordo_disease
MONDO:0017895	biolink:Disease	familial papillary or follicular thyroid carcinoma	A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients.	NCIT:C118829|Orphanet:319487|UMLS:C3896673|UMLS:CN227215|OMIM:188550	mondo.json	FNMTC|familial nonmedullary thyroid gland carcinoma|familial pure nonmedullary thyroid carcinoma	http://purl.obolibrary.org/obo/MONDO_0017895	UMLS:C3896673|Orphanet:319487|UMLS:CN227215|NCIT:C118829	ordo_disease
HGNC:30740	biolink:NamedThing	TARS2			mondo.json		http://identifiers.org/hgnc/30740		
MONDO:0017896	biolink:Disease	familial nonmedullary thyroid carcinoma	Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting.	UMLS:C3501843|Orphanet:319494|UMLS:CN227216|OMIMPS:188550	mondo.json	thyroid cancer, nonmedullary	http://purl.obolibrary.org/obo/MONDO_0017896	Orphanet:319494|UMLS:CN227216|https://omim.org/phenotypicSeries/PS188550|UMLS:C3501843	disease_grouping|ordo_group_of_disorders
MONDO:0015234	biolink:Disease	arachnodactyly-abnormal ossification-intellectual disability syndrome	Arachnodactyly - abnormal ossification - intellectual disability is a multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.	MESH:C537024|GARD:0000381|SCTID:720501007|UMLS:C2931398|Orphanet:1129	mondo.json	arachnodactyly, abnormal ossification and mental retardation|Kosztolanyi syndrome|arachnodactyly, abnormal ossification and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0015234	UMLS:C2931398|Orphanet:1129|http://identifiers.org/mesh/C537024|http://identifiers.org/snomedct/720501007	ordo_malformation_syndrome
MONDO:0017890	biolink:Disease	tubulocystic renal cell carcinoma	Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy ("bubble wrap-like") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver mestatsis have been reported.	Orphanet:319325|SCTID:733603009|NCIT:C126303|UMLS:C4288091	mondo.json	Tubulocystic renal cell cancer	http://purl.obolibrary.org/obo/MONDO_0017890	Orphanet:319325|http://identifiers.org/snomedct/733603009|NCIT:C126303|UMLS:C4288091	ordo_disease
MONDO:0015233	biolink:Disease	caudal appendage-deafness syndrome	Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.	GARD:0001163|UMLS:C2931593|MESH:C537713|SCTID:726621009|Orphanet:1123	mondo.json	Lynch-Lee-Murday syndrome|caudal appendage, short terminal phalanges, deafness, cryptorchidism and mental retardation|Lynch Lee Murday syndrome|caudal appendage, short terminal phalanges, deafness, cryptorchidism and intellectual disability|caudal appendage deafness	http://purl.obolibrary.org/obo/MONDO_0015233	http://identifiers.org/snomedct/726621009|UMLS:C2931593|Orphanet:1123|http://identifiers.org/mesh/C537713	ordo_malformation_syndrome
MONDO:0017891	biolink:Disease	inherited renal cancer-predisposing syndrome		UMLS:CN203941|Orphanet:319328	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017891	Orphanet:319328|UMLS:CN203941	ordo_group_of_disorders|disease_grouping
MONDO:0015232	biolink:Disease	radial deficiency-tibial hypoplasia syndrome		UMLS:CN226642|Orphanet:1121	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015232	Orphanet:1121|UMLS:CN226642	ordo_malformation_syndrome
MONDO:0015231	biolink:Disease	Bartter syndrome	Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.	SCTID:707742001|GARD:0005893|Orphanet:112|NCIT:C34412|UMLS:C0085570|MESH:D001477|ICD9:255.13|UMLS:C0004775|MedDRA:10050839|OMIMPS:601678|OMIM:601198|DOID:445	mondo.json	renal tubular normotensive hypokalemic alkalosis with hypercalciuria|Potassium wasting|hypokalemic alkalosis|hypokalemic alkalosis with hypercalciuria|aldosteronism with hyperplasia of the adrenal cortex|Bartter disease|salt-wasting tubulopathy, Henle's loop type|salt-losing tubular disorder, Henle's loop type|Bartter's syndrome	http://purl.obolibrary.org/obo/MONDO_0015231	https://omim.org/phenotypicSeries/PS601678|UMLS:C0004775|UMLS:C0085570|http://identifiers.org/mesh/D001477|http://identifiers.org/snomedct/707742001|DOID:445|Orphanet:112|NCIT:C34412	ordo_disease|gard_rare
MONDO:0017892	biolink:Disease	autosomal recessive myogenic arthrogryposis multiplex congenita	Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.	Orphanet:319332|SCTID:764812008|UMLS:CN203942	mondo.json	SYNE1-related arthrogryposis multiplex congenita|autosomal recessive myogenic AMC|SYNE1-related AMC	http://purl.obolibrary.org/obo/MONDO_0017892	Orphanet:319332|UMLS:CN203942|http://identifiers.org/snomedct/764812008	ordo_disease
HGNC:17761	biolink:NamedThing	TREM2			mondo.json		http://identifiers.org/hgnc/17761		
MONDO:0054868	biolink:Disease	meconium ileus	Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine.	SCTID:206523001|MESH:D000074270|NCIT:C98979	mondo.json	meconium ileus	http://purl.obolibrary.org/obo/MONDO_0054868	http://identifiers.org/snomedct/206523001|NCIT:C98979|http://identifiers.org/mesh/D000074270	
MONDO:0054867	biolink:Disease	paraomphalocele		MESH:C537170	mondo.json	Paraomphalocele, hypogastric|Paraomphalocele, epigastric	http://purl.obolibrary.org/obo/MONDO_0054867	http://identifiers.org/mesh/C537170	
MONDO:0054866	biolink:Disease	sudden arrhythmia death syndrome		UMLS:C2721586|SCTID:735686002|GARD:0009434	mondo.json	SADS|sudden cardiac death due to cardiac arrhythmia|sudden arrhythmic death syndrome	http://purl.obolibrary.org/obo/MONDO_0054866	http://identifiers.org/snomedct/735686002|UMLS:C2721586	gard_rare
MONDO:0054865	biolink:Disease	encephalopathy due to mitochondrial and peroxisomal fission defect		OMIMPS:614388|Orphanet:527276	mondo.json	encephalopathy due to mitochondrial and peroxisomal fission defect|encephalopathy due to defective mitochondrial and peroxisomal fission	http://purl.obolibrary.org/obo/MONDO_0054865	Orphanet:527276|https://omim.org/phenotypicSeries/PS614388	ordo_disease
MONDO:0003256	biolink:Disease	neurohypophysis granular cell tumor	A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)	NCIT:C7017|SCTID:699331002|ICDO:9582/0|UMLS:C1333873|EFO:1000285|DOID:5047	mondo.json	granular cell tumor of the Neurohypophysis (WHO grade I)|granular cell tumor of Neurohypophysis|granular cell tumor of the posterior pituitary gland|granular cell tumor of neurohypophysis|granular cell tumor of the neurohypophysis|neurohypophysis granular cell tumor	http://purl.obolibrary.org/obo/MONDO_0003256	DOID:5047|UMLS:C1333873|NCIT:C7017|http://identifiers.org/snomedct/699331002	
MONDO:0003257	biolink:Disease	posterior pituitary gland neoplasm	A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma.	UMLS:C1334957|NCIT:C7157|DOID:5048	mondo.json	posterior pituitary tumor|PITUICYTOMA, benign|neurohypophysis neoplasm (disease)|neoplasm of neurohypophysis|neurohypophysis tumor|Neurohypophysis tumor|posterior pituitary neoplasm|tumor of neurohypophysis|neurohypophysis neoplasm|posterior pituitary gland neoplasm|posterior pituitary gland tumor|Neurohypophysis neoplasm	http://purl.obolibrary.org/obo/MONDO_0003257	DOID:5048|UMLS:C1334957|NCIT:C7157	
MONDO:0003258	biolink:Disease	hobnail hemangioma	A hemangioma characterized by the presence of hobnail endothelial cells.	NCIT:C27506|SCTID:254790003|DOID:505|UMLS:C0346076	mondo.json	hobnail hemangioma|Targetoid Hemosiderotic hemangioma	http://purl.obolibrary.org/obo/MONDO_0003258	NCIT:C27506|UMLS:C0346076|http://identifiers.org/snomedct/254790003|DOID:505	
MONDO:0054869	biolink:Disease	nondystrophic myotonia		MESH:C536245|GARD:0009852	mondo.json	NDM	http://purl.obolibrary.org/obo/MONDO_0054869	http://identifiers.org/mesh/C536245	gard_rare
MONDO:0003259	biolink:Disease	obsolete melioidosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003259		
MONDO:0003252	biolink:Disease	granular cell cancer	An uncommon granular cell tumor which may metastasize to other anatomic sites. Morphologic characteristics include the presence of spindling neoplastic cells, necrosis, extensive pleomorphism, prominent nucleoli, and increased mitiotic activity.	UMLS:C0334618|SCTID:404041003|DOID:5042|ICDO:9580/3|NCIT:C4336|ICD9:171.9	mondo.json	malignant granular cell tumor|malignant granular cell neoplasm|myoblastoma, malignant|granular cell tumor, malignant (morphologic abnormality)|granular cell tumor, malignant|malignant granular cell myoblastoma	http://purl.obolibrary.org/obo/MONDO_0003252	NCIT:C4336|UMLS:C0334618|DOID:5042|http://identifiers.org/snomedct/404041003	
MONDO:0003253	biolink:Disease	vulvar granular cell tumor	A usually benign granular cell tumor that arises from the vulva.	DOID:5043|UMLS:C1520083|NCIT:C40328	mondo.json	vulvar granular cell tumor|granular cell tumor of mammalian vulva|mammalian vulva granular cell tumor	http://purl.obolibrary.org/obo/MONDO_0003253	UMLS:C1520083|NCIT:C40328|DOID:5043	
MONDO:0003254	biolink:Disease	cardiac granular cell neoplasm	A very rare granular cell tumor that arises from the heart.	NCIT:C5360|DOID:5044|UMLS:C1332845	mondo.json	granular cell neoplasm of the heart|granular cell neoplasm of heart|granular cell tumor of heart|granular cell tumor of the heart|Cardiac granular cell tumor|Cardiac granular cell neoplasm|heart granular cell tumor	http://purl.obolibrary.org/obo/MONDO_0003254	NCIT:C5360|DOID:5044|UMLS:C1332845	
MONDO:0003255	biolink:Disease	mediastinal granular cell myoblastoma	An exceptionally rare, generally benign, granular cell tumor that arises from the mediastinum. All the reported cases were located in the posterior mediastinum.	DOID:5046|NCIT:C6601|UMLS:C1334656	mondo.json	granular cell tumor of mediastinum|mediastinal granular cell neoplasm|mediastinum granular cell tumor|granular cell myoblastoma of the mediastinum|granular cell myoblastoma of mediastinum|granular cell tumor of the mediastinum|mediastinal granular cell tumor|mediastinal granular cell myoblastoma|granular cell neoplasm of the mediastinum|granular cell neoplasm of mediastinum	http://purl.obolibrary.org/obo/MONDO_0003255	NCIT:C6601|UMLS:C1334656|DOID:5046	
MONDO:0003250	biolink:Disease	benign granular cell tumor	A granular cell tumor that is confined to the site of origin, without metastatic potential.	UMLS:C0027043|MESH:D009379|NCIT:C3252|DOID:5039	mondo.json	benign granular cell myoblastoma|benign granular cell tumor|granular cell tumor, benign|benign granular cell neoplasm|myoblastoma	http://purl.obolibrary.org/obo/MONDO_0003250	NCIT:C3252|UMLS:C0027043|DOID:5039	
MONDO:0003251	biolink:Disease	esophageal granular cell tumor	A tumor that usually presents with small nodules or small sessile polyps, predominantly in the distal esophagus. Histologically, it is composed of sheets of oval to polygonal cells with a small central nucleus and abundant granular cytoplasm. This is usually a benign tumor. (WHO, 2000) -- 2003	UMLS:C1333448|DOID:5040|NCIT:C5700	mondo.json	esophageal granular cell tumor|esophageal granular cell myoblastoma|granular cell neoplasm of the esophagus|granular cell neoplasm of esophagus|granular cell esophagus tumor|granular cell esophageal tumor|granular cell esophagus myoblastoma|esophagus granular cell tumor|malignant granular cell esophageal tumor|granular cell esophagus neoplasm|granular cell tumor of esophagus|granular cell myoblastoma of the esophagus|esophageal granular cell neoplasm|granular cell tumor of the esophagus|granular cell myoblastoma of esophagus	http://purl.obolibrary.org/obo/MONDO_0003251	NCIT:C5700|UMLS:C1333448|DOID:5040	
MONDO:0015227	biolink:Disease	non-syndromic limb malformation		Orphanet:109011	mondo.json	isolated limb malformation|nonsyndromic limb malformation	http://purl.obolibrary.org/obo/MONDO_0015227	Orphanet:109011	ordo_group_of_disorders|disease_grouping
MONDO:0015226	biolink:Disease	obsolete syndrome with limb malformations as a major feature		Orphanet:109009|UMLS:CN197565	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015226	Orphanet:109009|UMLS:CN197565	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0015225	biolink:Disease	arthrogryposis syndrome		UMLS:C0003886|Orphanet:109007|MESH:D001176	mondo.json	arthrogryposis syndrome	http://purl.obolibrary.org/obo/MONDO_0015225	Orphanet:109007	ordo_group_of_disorders|clingen|disease_grouping
MONDO:0015224	biolink:Disease	obsolete rare intoxication	OBSOLETE. Any of the forms of poisoning that have a rare incidence.	UMLS:CN226640|Orphanet:108999	mondo.json	rare poisoning	http://purl.obolibrary.org/obo/MONDO_0015224	Orphanet:108999|UMLS:CN226640	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0017886	biolink:Disease	MIT family translocation renal cell carcinoma	MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever.	Orphanet:319308|SCTID:764694005|UMLS:C4518356	mondo.json	translocation renal cell carcinoma|carcinoma associated with MITF/TFE translocation	http://purl.obolibrary.org/obo/MONDO_0017886	http://identifiers.org/snomedct/764694005|UMLS:C4518356|Orphanet:319308	ordo_disease
MONDO:0017887	biolink:Disease	renal cell carcinoma associated with neuroblastoma	Renal cell carcinoma that develops in patients who are long-term survivors of childhood neuroblastoma.	Orphanet:319314|NCIT:C100051|UMLS:C3272295	mondo.json	renal cell cancer associated with neuroblastoma|renal cell carcinoma after neuroblastoma|renal cell carcinoma associated with neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0017887	NCIT:C100051|Orphanet:319314|UMLS:C3272295	ordo_histopathological_subtype
MONDO:0015229	biolink:Disease	Bardet-Biedl syndrome	A ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems	GARD:0006866|NCIT:C118632|UMLS:C0752166|OMIMPS:209900|SCTID:5619004|DOID:1935|MedDRA:10056715|MESH:D020788|ICD9:759.89|Orphanet:110	mondo.json	BBS|Bardet-Biedl syndrome	http://purl.obolibrary.org/obo/MONDO_0015229	https://omim.org/phenotypicSeries/PS209900|DOID:1935|http://identifiers.org/mesh/D020788|NCIT:C118632|UMLS:C0752166|Orphanet:110|http://identifiers.org/snomedct/5619004	ordo_disease|clingen
MONDO:0017888	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0017888		
MONDO:0015228	biolink:Disease	pentasomy X	Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).	GARD:0005678|Orphanet:11|NCIT:C89802|SCTID:43248007|MESH:C535319|UMLS:C0265497	mondo.json	penta-X|49,XXXXX syndrome|XXXXX syndrome|chromosome XXXXX syndrome|penta-X syndrome|chromosome X pentasomy|Pentasomy type X|poly-X|Pentasomy X syndrome|penta X syndrome|49, XXXXX syndrome	http://purl.obolibrary.org/obo/MONDO_0015228	http://identifiers.org/mesh/C535319|http://identifiers.org/snomedct/43248007|Orphanet:11|NCIT:C89802|UMLS:C0265497	ordo_malformation_syndrome
MONDO:0017889	biolink:Disease	obsolete mucinous tubular and spindle cell renal carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017889		
MONDO:0017882	biolink:Disease	Omsk hemorrhagic fever	Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis.	SCTID:48113006|UMLS:C0019103|DOID:992|MESH:D006481|GARD:0008254|Orphanet:319266|MedDRA:10030310|ICD9:065.1|ICD10CM:A98.1	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017882	Orphanet:319266|http://purl.bioontology.org/ontology/ICD10CM/A98.1|http://identifiers.org/snomedct/48113006|DOID:992|UMLS:C0019103|http://identifiers.org/mesh/D006481	gard_rare|ordo_disease
MONDO:0017883	biolink:Disease	obsolete multilocular cystic clear cell renal cell neoplasm of low malignant potential			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017883		
MONDO:0017884	biolink:Disease	papillary renal cell carcinoma	A rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma.	UMLS:C1306837|SCTID:733608000|GARD:0009572|DOID:4465|Orphanet:319298|GARD:0009575|UMLS:CN205129|UMLS:C1336078|EFO:0000640|NCIT:C6975|ONCOTREE:PRCC	mondo.json	papillary kidney carcinoma|RCCP|renal cell carcinoma, papillary, 1|papillary renal cell cancer|chromophil carcinoma of the kidney|renal adenocarcinoma|papillary renal cell carcinoma, multiple - (subtype)|renal cell carcinoma, papillary, type 1|papillary renal cell carcinoma, familial - (subtype)|papillary renal cell carcinoma, bilateral - (subtype)|papillary renal cell adenocarcinoma|chromophil carcinoma of kidney|papillary renal cell carcinoma, sporadic - (subtype)|chromophil renal cell carcinoma|chromophil RCC|papillary renal cell carcinoma|papillary renal carcinoma, malignant - (subtype)|papillary (chromophil) renal cell carcinoma|RCCP1|sporadic papillary renal cell carcinoma|HPRCC	http://purl.obolibrary.org/obo/MONDO_0017884	UMLS:CN205129|UMLS:C1336078|NCIT:C6975|Orphanet:319298|UMLS:C1306837|DOID:4465|http://identifiers.org/snomedct/733608000	gard_rare|ordo_disease
MONDO:0017885	biolink:Disease	chromophobe renal cell carcinoma	Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described.	UMLS:C1266042|SCTID:733471003|Orphanet:319303|ICDO:8270/3|ONCOTREE:CHRCC|UMLS:C3887514|ICDO:8317/3|GARD:0006064|EFO:0000335|DOID:4471|NCIT:C4146	mondo.json	chromophobe carcinoma of kidney|chromophobe renal cell adenocarcinoma|chromophobe cell carcinoma of kidney|chromophobe cell carcinoma of the kidney|chromophobe adenocarcinoma|kidney chromophobe|chromophobe renal cell cancer|chromophobe carcinoma of the kidney|ChRCC|chromophobe carcinoma|renal cell carcinoma, chromophobe cell|chromophobe renal cell carcinoma|CRCC|CHRCC|renal cell carcinoma, chromophobe type	http://purl.obolibrary.org/obo/MONDO_0017885	http://identifiers.org/snomedct/733471003|NCIT:C4146|Orphanet:319303|UMLS:C1266042|UMLS:C3887514|DOID:4471	gard_rare|ordo_disease
MONDO:0015223	biolink:Disease	obsolete rare anemia	OBSOLETE. Rare anemia.	Orphanet:108997	mondo.json	rare anemia|rare anemia (disease)	http://purl.obolibrary.org/obo/MONDO_0015223	Orphanet:108997	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
GO:0034381	biolink:NamedThing	plasma lipoprotein particle clearance	The process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded.		mondo.json	lipoprotein particle clearance	http://purl.obolibrary.org/obo/GO_0034381		
MONDO:0015222	biolink:Disease	syndromic respiratory or mediastinal malformation	A respiratory or mediastinal malformation that is part of a larger syndrome.	Orphanet:108995|UMLS:CN226638	mondo.json	syndrome associated with respiratory or mediastinal malformation|syndromic respiratory or mediastinal malformation	http://purl.obolibrary.org/obo/MONDO_0015222	Orphanet:108995|UMLS:CN226638	ordo_group_of_disorders|disease_grouping
MONDO:0017880	biolink:Disease	Rift valley fever	Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms.	MESH:D012295|NCIT:C128419|MedDRA:10039143|DOID:1328|SCTID:402917003|Orphanet:319251|UMLS:C0035613|ICD10CM:A92.4	mondo.json	RVF	http://purl.obolibrary.org/obo/MONDO_0017880	UMLS:C0035613|DOID:1328|http://purl.bioontology.org/ontology/ICD10CM/A92.4|Orphanet:319251|http://identifiers.org/mesh/D012295|http://identifiers.org/snomedct/402917003|NCIT:C128419	ordo_disease
MONDO:0015221	biolink:Disease	non-syndromic respiratory or mediastinal malformation	A respiratory or mediastinal malformation that is not part of a larger syndrome.	Orphanet:108993	mondo.json	nonsyndromic respiratory or mediastinal malformation|isolated respiratory or mediastinal malformation	http://purl.obolibrary.org/obo/MONDO_0015221	Orphanet:108993	ordo_group_of_disorders|disease_grouping
MONDO:0015220	biolink:Disease	obsolete syndrome with a central nervous system malformation as major feature		Orphanet:108991|UMLS:CN197562	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015220	UMLS:CN197562|Orphanet:108991	ordo_group_of_disorders
MONDO:0017881	biolink:Disease	Kyasanur forest disease	Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations.	GARD:0008257|DOID:11320|SCTID:23097003|MedDRA:10023505|ICD9:065.2|Orphanet:319254|UMLS:C0022810|ICD10CM:A98.2|MESH:D007733	mondo.json	Kyasanur forest disease virus infectious disease|Kyasanur forest disease virus caused disease or disorder|KFD virus|Kyasanur forest disease virus disease or disorder|monkey disease|Kyasanur hemorrhagic fever|KFD|monkey fever	http://purl.obolibrary.org/obo/MONDO_0017881	DOID:11320|UMLS:C0022810|Orphanet:319254|http://purl.bioontology.org/ontology/ICD10CM/A98.2|http://identifiers.org/snomedct/23097003|http://identifiers.org/mesh/D007733	gard_rare|ordo_disease
HGNC:17772	biolink:NamedThing	TXN2			mondo.json		http://identifiers.org/hgnc/17772		
GO:0071375	biolink:NamedThing	cellular response to peptide hormone stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals.		mondo.json	cellular response to polypeptide hormone stimulus	http://purl.obolibrary.org/obo/GO_0071375		
MONDO:0054813	biolink:Disease	Ehlers-Danlos syndrome, classic-like, 2		Orphanet:536532|UMLS:CN248508|OMIM:618000	mondo.json	EDSCLL2|Ehlers-Danlos syndrome, classic-like, 2	http://purl.obolibrary.org/obo/MONDO_0054813	Orphanet:536532|https://omim.org/entry/618000|UMLS:CN248508	ordo_disease
MONDO:0030846	biolink:Disease	spermatogenic failure 48		OMIM:619108	mondo.json	spermatogenic failure 48|SPGF48	http://purl.obolibrary.org/obo/MONDO_0030846	https://omim.org/entry/619108	
HGNC:30718	biolink:NamedThing	DNAJB13			mondo.json		http://identifiers.org/hgnc/30718		
MONDO:0030847	biolink:Disease	arthrogryposis, distal, type 1C		OMIM:619110	mondo.json	arthrogryposis, distal, type 1C|DA1C	http://purl.obolibrary.org/obo/MONDO_0030847	https://omim.org/entry/619110	
MONDO:0054817	biolink:Disease	leukodystrophy, hypomyelinating, 17		OMIM:618006|UMLS:CN248514	mondo.json	HLD17|leukodystrophy, hypomyelinating, 17	http://purl.obolibrary.org/obo/MONDO_0054817	UMLS:CN248514|https://omim.org/entry/618006	
MONDO:0015292	biolink:Disease	endotheliitis	An inflammatory disease involving a pathogenic inflammatory response in the endothelium.	Orphanet:137602	mondo.json	endothelium inflammation|inflammation of endothelium	http://purl.obolibrary.org/obo/MONDO_0015292	Orphanet:137602	ordo_disease
MONDO:0015291	biolink:Disease	stromal keratitis	Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases.	Orphanet:137599|UMLS:C1318020	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015291	UMLS:C1318020|Orphanet:137599	ordo_disease
MONDO:0030841	biolink:Disease	mismatch repair cancer syndrome 3		OMIM:619097	mondo.json	MMRCS3|mismatch repair cancer syndrome 3	http://purl.obolibrary.org/obo/MONDO_0030841	https://omim.org/entry/619097	
MONDO:0030844	biolink:Disease	spermatogenic failure 47		OMIM:619102	mondo.json	SPGF47|spermatogenic failure 47	http://purl.obolibrary.org/obo/MONDO_0030844	https://omim.org/entry/619102	
MONDO:0015290	biolink:Disease	neurotrophic keratopathy	Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision.	Orphanet:137596|ICD10CM:H16.2|UMLS:C0339296|SCTID:128080005|MedDRA:10069732	mondo.json	neurotrophic keratitis	http://purl.obolibrary.org/obo/MONDO_0015290	Orphanet:137596|http://identifiers.org/snomedct/128080005|UMLS:C0339296	ordo_disease
MONDO:0030843	biolink:Disease	mismatch repair cancer syndrome 4		OMIM:619101	mondo.json	mismatch repair cancer syndrome 4|MMRCS4	http://purl.obolibrary.org/obo/MONDO_0030843	https://omim.org/entry/619101	
MONDO:0030849	biolink:Disease	intellectual developmental disorder with speech delay and axonal peripheral neuropathy		OMIM:619099	mondo.json	IDDSAPN	http://purl.obolibrary.org/obo/MONDO_0030849	https://omim.org/entry/619099	
NCBITaxon:32008	biolink:OrganismalEntity	Burkholderia		PMID:25566316|PMID:1283774|PMID:10555347|GC_ID:11	mondo.json	Pseudomonas RNA homology group II	http://purl.obolibrary.org/obo/NCBITaxon_32008		
HGNC:17748	biolink:NamedThing	DACT1			mondo.json		http://identifiers.org/hgnc/17748		
MONDO:0015296	biolink:Disease	cardiac anomalies-heterotaxy syndrome	Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.	Orphanet:137628|UMLS:CN199246	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015296	UMLS:CN199246|Orphanet:137628	ordo_malformation_syndrome
MONDO:0015295	biolink:Disease	intractable diarrhea-choanal atresia-eye anomalies syndrome	Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously.	UMLS:CN226653|Orphanet:137622	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015295	Orphanet:137622|UMLS:CN226653	ordo_malformation_syndrome
MONDO:0015294	biolink:Disease	nephrogenic systemic fibrosis	Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease.	GARD:0009725|MESH:D054989|NCIT:C84920|ICD9:588.89|EFO:1001814|Orphanet:137617|UMLS:C1619692|UMLS:C3888044|SCTID:424114000|MedDRA:10067467	mondo.json	nephrogenic fibrosing dermopathy|NSF|NFD	http://purl.obolibrary.org/obo/MONDO_0015294	http://identifiers.org/snomedct/424114000|http://identifiers.org/mesh/D054989|NCIT:C84920|UMLS:C1619692|UMLS:C3888044|Orphanet:137617	ordo_disease|gard_rare
MONDO:0015293	biolink:Disease	segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.	UMLS:CN199243|SCTID:763867001|Orphanet:137608	mondo.json	SOLAMEN syndrome	http://purl.obolibrary.org/obo/MONDO_0015293	UMLS:CN199243|http://identifiers.org/snomedct/763867001|Orphanet:137608	ordo_malformation_syndrome
MONDO:0015299	biolink:Disease	Asherman syndrome		UMLS:C0156372|GARD:0005853|Orphanet:137686|SCTID:48236007|MedDRA:10053868|MedDRA:10022821	mondo.json	intrauterine synechiae|Asherman syndrome|uterine synechiae|Asherman's syndrome|intrauterine adhesions	http://purl.obolibrary.org/obo/MONDO_0015299	UMLS:C0156372|http://identifiers.org/snomedct/48236007|Orphanet:137686	ordo_disease|gard_rare
NCBITaxon:32003	biolink:OrganismalEntity	Nitrosomonadales		PMID:25701846|PMID:28581923|GC_ID:11|PMID:25017294|PMID:10028253|PMID:11760943|PMID:16403855	mondo.json	Ammonia oxidizing bacteria|Ammonia-oxidizing bacteria	http://purl.obolibrary.org/obo/NCBITaxon_32003		
MONDO:0015298	biolink:Disease	pellucid marginal degeneration		GARD:0011895|UMLS:CN199253|Orphanet:137672	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015298	UMLS:CN199253|Orphanet:137672	gard_rare|ordo_disease
MONDO:0015297	biolink:Disease	obsolete microcephaly-digital anomalies-intellectual disability syndrome		Orphanet:137653|UMLS:CN199250	mondo.json	Kelly-Kirson-Wyatt syndrome	http://purl.obolibrary.org/obo/MONDO_0015297	UMLS:CN199250|Orphanet:137653	
MONDO:0054802	biolink:Disease	erythrocytosis, familial, 7		DOID:0111631|OMIM:617981|UMLS:CN244942	mondo.json	erythrocytosis 7|erythrocytosis, Alpha-globin type|polycythemia, Alpha-globin type|ECYT7|erythrocytosis, FAMILIAL, 7	http://purl.obolibrary.org/obo/MONDO_0054802	UMLS:CN244942|https://omim.org/entry/617981|DOID:0111631	
GO:0071396	biolink:NamedThing	cellular response to lipid	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0071396		
MONDO:0054801	biolink:Disease	erythrocytosis, familial, 6		DOID:0111632|OMIM:617980|UMLS:CN244941	mondo.json	polycythemia, Beta-globin type|erythrocytosis 6|erythrocytosis, Beta-globin type|erythrocytosis, FAMILIAL, 6|ECYT6	http://purl.obolibrary.org/obo/MONDO_0054801	UMLS:CN244941|https://omim.org/entry/617980|DOID:0111632	
MONDO:0030856	biolink:Disease	developmental and epileptic encephalopathy 89		OMIM:619124	mondo.json	developmental and epileptic encephalopathy 89|DEE89	http://purl.obolibrary.org/obo/MONDO_0030856	https://omim.org/entry/619124	
MONDO:0030859	biolink:Disease	COACH syndrome 2		OMIM:619111	mondo.json	COACH2	http://purl.obolibrary.org/obo/MONDO_0030859	https://omim.org/entry/619111	
MONDO:0030858	biolink:Disease	immunodeficiency 75		OMIM:619126	mondo.json	IMD75|immunodeficiency 75	http://purl.obolibrary.org/obo/MONDO_0030858	https://omim.org/entry/619126	
MONDO:0015281	biolink:Disease	atrial standstill	Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.	SCTID:450919004|Orphanet:1344|ICD9:426.6|UMLS:CN199216|MESH:C563984	mondo.json	atrial cardiomyopathy with heart block	http://purl.obolibrary.org/obo/MONDO_0015281	http://identifiers.org/snomedct/450919004|UMLS:CN199216|http://identifiers.org/mesh/C563984|Orphanet:1344	ordo_disease
MONDO:0054806	biolink:Disease	microcephaly 23, primary, autosomal recessive		OMIM:617985|UMLS:CN244932	mondo.json	microcephaly 23, PRIMARY, autosomal recessive|MCPH23	http://purl.obolibrary.org/obo/MONDO_0054806	https://omim.org/entry/617985|UMLS:CN244932	
MONDO:0015280	biolink:Disease	cardiofaciocutaneous syndrome	Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.	MESH:C535579|SCTID:403770008|DOID:0060233|Orphanet:1340|OMIMPS:115150|GARD:0009146|UMLS:C1275081|NCIT:C84617	mondo.json	CFC|CFC syndrome|congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure|cardiofaciocutaneous (CFC) syndrome|cardiofaciocutaneous syndrome|cardio-facial-cutaneous syndrome|cardio-facio-cutaneous syndrome	http://purl.obolibrary.org/obo/MONDO_0015280	http://identifiers.org/snomedct/403770008|http://identifiers.org/mesh/C535579|UMLS:C1275081|https://omim.org/phenotypicSeries/PS115150|DOID:0060233|NCIT:C84617|Orphanet:1340	ordo_malformation_syndrome|clingen
MONDO:0054805	biolink:Disease	microcephaly 22, primary, autosomal recessive		OMIM:617984	mondo.json	microcephaly 22, PRIMARY, autosomal recessive|MCPH22	http://purl.obolibrary.org/obo/MONDO_0054805	https://omim.org/entry/617984	
MONDO:0030852	biolink:Disease	neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities		OMIM:619103	mondo.json	neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities|NEDFASB	http://purl.obolibrary.org/obo/MONDO_0030852	https://omim.org/entry/619103	
MONDO:0054804	biolink:Disease	microcephaly 21, primary, autosomal recessive		OMIM:617983|UMLS:CN244930	mondo.json	microcephaly 21, PRIMARY, autosomal recessive|MCPH21	http://purl.obolibrary.org/obo/MONDO_0054804	UMLS:CN244930|https://omim.org/entry/617983	
MONDO:0030855	biolink:Disease	combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2		OMIM:619120	mondo.json	combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2|OIEDS Syndrome 2|OIEDS2	http://purl.obolibrary.org/obo/MONDO_0030855	https://omim.org/entry/619120	
MONDO:0030854	biolink:Disease	combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1		OMIM:619115	mondo.json	combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1|OIEDS1|OIEDS Syndrome 1	http://purl.obolibrary.org/obo/MONDO_0030854	https://omim.org/entry/619115	
HGNC:17759	biolink:NamedThing	PDSS1			mondo.json		http://identifiers.org/hgnc/17759		
MONDO:0015285	biolink:Disease	Carney complex	Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.	Orphanet:1359|UMLS:C0406810|SCTID:733491005|NCIT:C4705|DOID:0050471|ICD10CM:D44.8|MESH:D056733|GARD:0001119	mondo.json	CNC|Myxoma-spotty pigmentation-endocrine overactivity syndrome|lentigines, atrial myxoma, mucocutaneous myoma, blue Nevus syndrome|Carney complex|atrial myxoma with lentigines|lamb|nevi, atrial myxoma, skin myxoma, ephelides syndrome|lamb syndrome|NAME syndrome|Carney's syndrome|Carney Complex, type 2|Myxoma - spotty pigmentation - endocrine overactivity|Carney Complex, type 1|Carney syndrome	http://purl.obolibrary.org/obo/MONDO_0015285	http://identifiers.org/mesh/D056733|http://identifiers.org/snomedct/733491005|Orphanet:1359|UMLS:C0406810|DOID:0050471|NCIT:C4705	ordo_disease
MONDO:0030860	biolink:Disease	neuronopathy, distal hereditary motor, type 5C	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the BSCL2 gene.	OMIM:619112	mondo.json	neuropathy, distal hereditary motor, type VC|spinal muscular atrophy, distal, type 5C|HMN5C|DHMN5C	http://purl.obolibrary.org/obo/MONDO_0030860	https://omim.org/entry/619112	
MONDO:0015284	biolink:Disease	heart-hand syndrome type 2	Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).	UMLS:C2931323|MESH:C536784|Orphanet:1350|GARD:0009847|SCTID:721010003	mondo.json	atriodigital dysplasia type 2|heart-hand syndrome 2|Tabatznik syndrome	http://purl.obolibrary.org/obo/MONDO_0015284	Orphanet:1350|http://identifiers.org/mesh/C536784|UMLS:C2931323|http://identifiers.org/snomedct/721010003	ordo_malformation_syndrome
MONDO:0030862	biolink:Disease	COACH syndrome 3		OMIM:619113	mondo.json	COACH3	http://purl.obolibrary.org/obo/MONDO_0030862	https://omim.org/entry/619113	
MONDO:0015283	biolink:Disease	maternally-inherited cardiomyopathy and hearing loss	Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.	UMLS:CN199218|Orphanet:1349	mondo.json	maternally-inherited cardiomyopathy and deafness|tRNA-LYS-related cardiomyopathy-hearing loss syndrome	http://purl.obolibrary.org/obo/MONDO_0015283	Orphanet:1349|UMLS:CN199218	ordo_malformation_syndrome
HGNC:17755	biolink:NamedThing	TNFRSF13C			mondo.json		http://identifiers.org/hgnc/17755		
MONDO:0015282	biolink:Disease	cardiomyopathy-cataract-hip spine disease syndrome	Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.	GARD:0001102|SCTID:720609003|UMLS:C2931548|Orphanet:1345|MESH:C537616	mondo.json	Krasnow-Qazi syndrome|cardiomyopathy cataract hip spine disease|familial dilated cardiomyopathy associated with cataracts and hip-spine disease|Krasnow Qazi syndrome|Krasnow Qazi Yermakov syndrome	http://purl.obolibrary.org/obo/MONDO_0015282	Orphanet:1345|http://identifiers.org/mesh/C537616|http://identifiers.org/snomedct/720609003|UMLS:C2931548	gard_rare|ordo_disease
MONDO:0030861	biolink:Disease	osteogenesis imperfecta, type 21		OMIM:619131	mondo.json	OI21|osteogenesis imperfecta, TYPE XXI|osteogenesis imperfecta 21	http://purl.obolibrary.org/obo/MONDO_0030861	https://omim.org/entry/619131	
MONDO:0015289	biolink:Disease	infectious epithelial keratitis	Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent.	Orphanet:137593	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015289	Orphanet:137593	ordo_disease
MONDO:0015288	biolink:Disease	herpes simplex virus keratitis	A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed)	ICD10EXP:B00.5+|DOID:0080158|EFO:0007308|UMLS:C0022570|UMLS:C0019357|Orphanet:137586|ICD10EXP:H19.1*|SCTID:9389005|NCIT:C34743	mondo.json	Simplexvirus caused keratitis|HSV keratitis|dendritic keratitis|Simplexvirus keratitis|herpetic keratitis	http://purl.obolibrary.org/obo/MONDO_0015288	Orphanet:137586|DOID:0080158|NCIT:C34743|UMLS:C0019357|http://identifiers.org/snomedct/9389005|UMLS:C0022570	disease_grouping|ordo_group_of_disorders
MONDO:0015287	biolink:Disease	obsolete vulvar intraepithelial neoplasia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015287		
MONDO:0015286	biolink:Disease	congenital disorder of glycosylation	Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.	ICD9:271.8|NCIT:C84615|Orphanet:137|MESH:D018981|SCTID:238049009|DOID:5212|UMLS:C0282577|GARD:0010307	mondo.json	CDG|carbohydrate deficient glycoprotein syndrome|congenital disorders of glycosylation|carbohydrate-deficient glycoprotein syndromes|congenital disorder of glycosylation|carbohydrate-deficient glycoprotein syndrome	http://purl.obolibrary.org/obo/MONDO_0015286	DOID:5212|Orphanet:137|UMLS:C0282577|http://identifiers.org/snomedct/238049009|http://identifiers.org/mesh/D018981|NCIT:C84615	disease_grouping|ordo_group_of_disorders|clingen
MONDO:0030868	biolink:Disease	spermatogenic failure 49		OMIM:619144	mondo.json	SPGF49|spermatogenic failure 49	http://purl.obolibrary.org/obo/MONDO_0030868	https://omim.org/entry/619144	
MONDO:0054835	biolink:Disease	parkinsonism-dystonia, infantile, 1		OMIM:613135	mondo.json	dopamine transporter deficiency syndrome|PKDYS|Parkinsonism-dystonia, infantile, 1|PKDYS1	http://purl.obolibrary.org/obo/MONDO_0054835	https://omim.org/entry/613135	
MONDO:0030867	biolink:Disease	thrombocytopenia 7		OMIM:619130	mondo.json	thrombocytopenia 7|Thrombocytopenia, Autosomal Dominant, 7|THC7	http://purl.obolibrary.org/obo/MONDO_0030867	https://omim.org/entry/619130	
MONDO:0054833	biolink:Disease	charcot-marie-tooth disease, axonal, type 2DD		OMIM:618036|Orphanet:521414|DOID:0111558|UMLS:CN248781	mondo.json	Charcot-Marie-Tooth neuropathy, type 2Dd|CMT2DD|Charcot-Marie-tooth disease, axonal, type 2DD	http://purl.obolibrary.org/obo/MONDO_0054833	Orphanet:521414|https://omim.org/entry/618036|DOID:0111558|UMLS:CN248781	ordo_disease
MONDO:0030869	biolink:Disease	spermatogenic failures 50		OMIM:619145	mondo.json	spermatogenic failures 50|spermatogenic failure|SPGF50	http://purl.obolibrary.org/obo/MONDO_0030869	https://omim.org/entry/619145	
MONDO:0054832	biolink:Disease	corneal dystrophy, posterior polymorphous, 4		OMIM:618031|UMLS:CN248531	mondo.json	PPCD4|corneal dystrophy, POSTERIOR polymorphous, 4	http://purl.obolibrary.org/obo/MONDO_0054832	https://omim.org/entry/618031|UMLS:CN248531	
MONDO:0015270	biolink:Disease	butyrylcholinesterase deficiency	Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.	OMIM:617936|MESH:C537417|SCTID:191397007|Orphanet:132|ICD9:289.89|UMLS:C1283400|GARD:0007482	mondo.json	Acholinesterasemia|Suxamethonium sensitivity|hypocholinesterasemia, fluoride-resistant, Japanese type|butyrylcholinesterase deficiency|apnea, postanesthetic|pseudocholinesterase E1|pseudocholinesterase deficiency|apnea, postanesthetic, susceptibility to, due to BCHE deficiency|butyrylcholinesterase deficiency, fluoride-resistant, Japanese type|succinylcholine sensitivity|cholinesterase 2 deficiency|BCHED	http://purl.obolibrary.org/obo/MONDO_0015270	http://identifiers.org/mesh/C537417|Orphanet:132|UMLS:C1283400|https://omim.org/entry/617936|http://identifiers.org/snomedct/191397007	ordo_disease
MONDO:0030864	biolink:Disease	Ritscher-Schinzel syndrome 3		OMIM:619135	mondo.json	Ritscher-Schinzel syndrome 3|RTSC3	http://purl.obolibrary.org/obo/MONDO_0030864	https://omim.org/entry/619135	
MONDO:0003289	biolink:Disease	deep leiomyoma	A rare benign smooth muscle neoplasm arising from deep tissue. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOID:5128|UMLS:C1333266|NCIT:C6512	mondo.json	deep leiomyoma	http://purl.obolibrary.org/obo/MONDO_0003289	UMLS:C1333266|DOID:5128|NCIT:C6512	
MONDO:0054838	biolink:Disease	cardiomyopathy, familial hypertrophic 27		UMLS:CN252335|OMIM:618052	mondo.json	CMH27|cardiomyopathy, FAMILIAL hypertrophic 27	http://purl.obolibrary.org/obo/MONDO_0054838	https://omim.org/entry/618052|UMLS:CN252335	
MONDO:0030866	biolink:Disease	neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities		OMIM:619121	mondo.json	NEDCASB	http://purl.obolibrary.org/obo/MONDO_0030866	https://omim.org/entry/619121	
MONDO:0054837	biolink:Disease	intellectual disability, autosomal dominant 57		UMLS:CN252334|OMIM:618050	mondo.json	MRD57|intellectual developmental disorder, autosomal dominant 57|mental retardation, autosomal dominant 57|intellectual disability, autosomal dominant 57	http://purl.obolibrary.org/obo/MONDO_0054837	https://omim.org/entry/618050|UMLS:CN252334	
MONDO:0054836	biolink:Disease	parkinsonism-dystonia, infantile, 2		UMLS:CN248785|OMIM:618049	mondo.json	PKDYS2|Parkinsonism-dystonia, infantile, 2	http://purl.obolibrary.org/obo/MONDO_0054836	https://omim.org/entry/618049|UMLS:CN248785	
MONDO:0003285	biolink:Disease	fallopian tube leiomyoma	A benign smooth muscle neoplasm arising from the fallopian tube. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	NCIT:C40127|UMLS:C1517115|DOID:5124	mondo.json	leiomyoma of fallopian tube|fallopian tube leiomyoma	http://purl.obolibrary.org/obo/MONDO_0003285	NCIT:C40127|DOID:5124|UMLS:C1517115	
MONDO:0003286	biolink:Disease	extrahepatic bile duct leiomyoma	A benign smooth muscle neoplasm arising from an extrahepatic bile duct. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	UMLS:C1333507|NCIT:C5855|DOID:5125	mondo.json	leiomyoma of the extrahepatic bile duct|leiomyoma of extrahepatic bile duct|extrahepatic bile duct leiomyoma	http://purl.obolibrary.org/obo/MONDO_0003286	UMLS:C1333507|DOID:5125|NCIT:C5855	
MONDO:0003287	biolink:Disease	central nervous system leiomyoma	A benign smooth muscle neoplasm arising from the central nervous system. It is characterized by the presence of intersecting fascicles composed of spindle cells that often lack mitotic activity.	UMLS:C1334382|DOID:5126|NCIT:C6998	mondo.json	leiomyoma of central nervous system|leiomyoma of the central nervous system|leiomyoma of the CNS|central nervous system leiomyoma|leiomyoma of CNS	http://purl.obolibrary.org/obo/MONDO_0003287	UMLS:C1334382|DOID:5126|NCIT:C6998	
MONDO:0003288	biolink:Disease	bizarre leiomyoma	A morphologic variant of leiomyoma characterized by the presence of pleomorphic muscle cells with bizarre hyperchromatic nuclei and eosinophilic cytoplasm.	DOID:5127|UMLS:C0334478|NCIT:C4257|ICDO:8893/0	mondo.json	pleomorphic leiomyoma|atypical leiomyoma|Symplastic leiomyoma|bizarre leiomyoma	http://purl.obolibrary.org/obo/MONDO_0003288	UMLS:C0334478|DOID:5127|NCIT:C4257	
MONDO:0003281	biolink:Disease	ovarian cystic teratoma	A teratoma that arises from the ovary and is characterized by the presence of cystic structures. Representative example is the dermoid cyst.	DOID:5118|NCIT:C7283|UMLS:C1335155	mondo.json	ovary cystic teratoma	http://purl.obolibrary.org/obo/MONDO_0003281	DOID:5118|NCIT:C7283|UMLS:C1335155	
MONDO:0003282	biolink:Disease	ovarian cyst		ICD9:620.2|DOID:5119|HP:0000138|MESH:D010048|SCTID:79883001	mondo.json	cyst, ovarian|ovarian cyst (disease)|cyst, corpus luteum|cysts, ovarian|corpus luteum cyst|cysts, corpus luteum|ovarian cyst|corpus luteum cysts	http://purl.obolibrary.org/obo/MONDO_0003282	http://identifiers.org/snomedct/79883001|DOID:5119|http://identifiers.org/mesh/D010048	
MONDO:0003283	biolink:Disease	epididymal neoplasm	A benign or malignant neoplasm that affects the epididymis. Representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma.	SCTID:126902008|NCIT:C39958|UMLS:C0346239|DOID:512|ICD9:239.5	mondo.json	neoplasm of epididymus|neoplasm of epididymis|epididymis neoplasm (disease)|epididymis tumor|epididymal neoplasm|tumor of epididymis|epididymis neoplasm	http://purl.obolibrary.org/obo/MONDO_0003283	DOID:512|http://identifiers.org/snomedct/126902008|NCIT:C39958|UMLS:C0346239	
MONDO:0003284	biolink:Disease	mediastinum leiomyoma	A benign smooth muscle neoplasm arising from the mediastium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	NCIT:C6598|DOID:5123|UMLS:C1334659	mondo.json	mediastinum leiomyoma|leiomyoma of the mediastinum|mediastinal leiomyoma|leiomyoma of mediastinum	http://purl.obolibrary.org/obo/MONDO_0003284	UMLS:C1334659|DOID:5123|NCIT:C6598	
MONDO:0003280	biolink:Disease	swayback	Congenital locomotor ataxia of lambs, thought to be associated with copper deficiency. It is characterized clinically by progressive incoordination of the hind limbs and pathologically by disruption of neuron and myelin development in the central nervous system. It is caused by a deficiency of metabolizable copper in the ewe during the last half of her pregnancy. (Dorland, 28th ed; Stedman, 26th ed)	MESH:D013540|SCTID:61960001|DOID:5112	mondo.json	swayback of sheep	http://purl.obolibrary.org/obo/MONDO_0003280	DOID:5112|http://identifiers.org/mesh/D013540|http://identifiers.org/snomedct/61960001	
MONDO:0015279	biolink:Disease	chronic mucocutaneous candidiasis		SCTID:234568006|Orphanet:1334|OMIM:613953|HP:0002728|MESH:D002178|DOID:2058|MedDRA:10009007|OMIMPS:114580|NCIT:C34444|UMLS:C0006845	mondo.json	familial CMC|chronic mucocutaneous candidiasis (disease)|familial chronic mucocutaneous candidiasis|chronic mucocutaneous candidiasis|CANDF|familial candidiasis|CMC	http://purl.obolibrary.org/obo/MONDO_0015279	http://identifiers.org/mesh/D002178|http://identifiers.org/snomedct/234568006|Orphanet:1334|NCIT:C34444|DOID:2058|https://omim.org/phenotypicSeries/PS114580|UMLS:C0006845	ordo_disease
MONDO:0015274	biolink:Disease	chronic beryllium disease	Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.	ICD9:503|MESH:D001607|MedDRA:10004485|EFO:0007168|DOID:10322|Orphanet:133|GARD:0000867|SCTID:18121009	mondo.json	reversible berylliosis|Subacute berylliosis|acute berylliosis|beryllium poisoning|chronic pulmonary berylliosis|berylliosis|Beryllliosis|chronic berylliosis|beryllium disease|chronic beryllium lung disease	http://purl.obolibrary.org/obo/MONDO_0015274	http://identifiers.org/mesh/D001607|Orphanet:133|DOID:10322|http://identifiers.org/snomedct/18121009	ordo_disease
MONDO:0030871	biolink:Disease	vertebral hypersegmentation and orofacial anomalies		OMIM:619122	mondo.json	VHO	http://purl.obolibrary.org/obo/MONDO_0030871	https://omim.org/entry/619122	
MONDO:0015273	biolink:Disease	complete atrioventricular canal	Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow.	SCTID:360481003|MESH:C535974|GARD:0001454|ICD9:745.69|Orphanet:1329	mondo.json	CAVC|complete atrioventricular septal defect	http://purl.obolibrary.org/obo/MONDO_0015273	http://identifiers.org/snomedct/360481003|Orphanet:1329|http://identifiers.org/mesh/C535974	gard_rare|ordo_morphological_anomaly
MONDO:0030870	biolink:Disease	premature ovarian failure 17		OMIM:619146	mondo.json	premature ovarian failure 17|POF17	http://purl.obolibrary.org/obo/MONDO_0030870	https://omim.org/entry/619146	
MONDO:0015272	biolink:Disease	camptodactyly-taurinuria syndrome	Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.	Orphanet:1325|GARD:0001069|UMLS:C2931681|MESH:C537972|OMIM:114200|SCTID:733466005	mondo.json	camptodactyly with taurinuria|camptodactyly taurinuria|familial streblodactyly with amino-aciduria	http://purl.obolibrary.org/obo/MONDO_0015272	Orphanet:1325|http://identifiers.org/mesh/C537972|http://identifiers.org/snomedct/733466005|UMLS:C2931681	ordo_malformation_syndrome|gard_rare
MONDO:0030873	biolink:Disease	cardiofacioneurodevelopmental syndrome		OMIM:619123	mondo.json	CFNDS	http://purl.obolibrary.org/obo/MONDO_0030873	https://omim.org/entry/619123	
MONDO:0015271	biolink:Disease	idiopathic camptocormia	Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology.	MedDRA:10069646|MESH:C537968|SCTID:13534001|Orphanet:1320|GARD:0001063	mondo.json	camptocormism|idiopathic progressive lumbar kyphosis|idiopathic camptocormism|bent spine|camptocormia|bent spine syndrome	http://purl.obolibrary.org/obo/MONDO_0015271	http://identifiers.org/snomedct/13534001|Orphanet:1320|http://identifiers.org/mesh/C537968	ordo_morphological_anomaly
MONDO:0030872	biolink:Disease	frontotemporal dementia and/or amyotrophic lateral sclerosis 8		OMIM:619132	mondo.json	frontotemporal dementia and/or amyotrophic lateral sclerosis 8|FTDALS8	http://purl.obolibrary.org/obo/MONDO_0030872	https://omim.org/entry/619132	
MONDO:0054842	biolink:Disease	polycystic kidney disease 6 with or without polycystic liver disease	Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene.	OMIM:618061|UMLS:CN252647	mondo.json	polycystic kidney disease 6 with or without polycystic liver disease|polycystic kidney disease caused by mutation in DNAJB11|DNAJB11 polycystic kidney disease|PKD6	http://purl.obolibrary.org/obo/MONDO_0054842	https://omim.org/entry/618061|UMLS:CN252647	
MONDO:0015278	biolink:Disease	familial pancreatic carcinoma	Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.	UMLS:C2931038|MESH:C535837|NCIT:C43298|GARD:0004206|Orphanet:1333|OMIM:260350|SCTID:715414009	mondo.json	hereditary pancreatic carcinoma|pancreatic acinar carcinoma|pancreatic cancer, somatic|familial pancreatic carcinoma|hereditary pancreatic cancer|hereditary exocrine pancreatic carcinoma|familial pancreatic cancer|pancreatic carcinoma, somatic	http://purl.obolibrary.org/obo/MONDO_0015278	http://identifiers.org/snomedct/715414009|https://omim.org/entry/260350|Orphanet:1333|http://identifiers.org/mesh/C535837|NCIT:C43298|UMLS:C2931038	ordo_disease|clingen
NCBITaxon:2497569	biolink:OrganismalEntity	Negarnaviricota		GC_ID:1	mondo.json	Negative-strand RNA viruses	http://purl.obolibrary.org/obo/NCBITaxon_2497569		
MONDO:0015277	biolink:Disease	medullary thyroid gland carcinoma	A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy.	GARD:0007004|DOID:3973|NCIT:C3879|Orphanet:1332|SCTID:255032005|HP:0002865|MedDRA:10027101|UMLS:C0206693|UMLS:C0238462|ONCOTREE:THME	mondo.json	medullary thyroid cancer|thyroid gland medullary cancer|thyroid gland neuroendocrine carcinoma|C cell carcinoma|parafollicular cell carcinoma|medullary carcinoma|medullary thyroid gland carcinoma|THME|thyroid carcinoma, medullary|carcinoma, C-cell, malignant|thyroid gland medullary carcinoma|thyroid medullary carcinoma|ultimobranchial thyroid tumor|medullary carcinoma of the thyroid gland|ultimobranchial thyroid tumour|carcinoma of parafollicular cell|medullary carcinoma of thyroid gland|medullary carcinoma of the thyroid|MTC|medullary thyroid cancer (MTC)|medullary carcinoma of thyroid|medullary thyroid carcinoma|thyroid cancer, medullary	http://purl.obolibrary.org/obo/MONDO_0015277	UMLS:C0238462|NCIT:C3879|Orphanet:1332|UMLS:C0206693|http://identifiers.org/snomedct/255032005|DOID:3973	ordo_disease
MONDO:0015276	biolink:Disease	obsolete prostate cancer			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015276		
MONDO:0015275	biolink:Disease	partial atrioventricular canal	Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea.	GARD:0004229|SCTID:718216009|Orphanet:1330|MESH:C536112|OMIM:600309	mondo.json	partial common atrioventricular canal|partial atrioventricular septal defects|partial atrioventricular canal defect|partial AVSD|PAVC	http://purl.obolibrary.org/obo/MONDO_0015275	http://identifiers.org/snomedct/718216009|Orphanet:1330|http://identifiers.org/mesh/C536112	ordo_morphological_anomaly|gard_rare
MONDO:0030878	biolink:Disease	Kaya-Barakat-Masson syndrome		OMIM:619125	mondo.json	KABAMAS	http://purl.obolibrary.org/obo/MONDO_0030878	https://omim.org/entry/619125	
MONDO:0030875	biolink:Disease	frontotemporal dementia and/or amyotrophic lateral sclerosis 5		OMIM:619141	mondo.json	FTDALS5|frontotemporal dementia and/or amyotrophic lateral sclerosis 5	http://purl.obolibrary.org/obo/MONDO_0030875	https://omim.org/entry/619141	
NCBITaxon:2497571	biolink:OrganismalEntity	Polyploviricotina		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2497571		
MONDO:0030877	biolink:Disease	cardioacrofacial dysplasia 2		OMIM:619143	mondo.json	cardioacrofacial dysplasia 2|CAFD2|cardioacrofacial dysplasia 2, autosomal dominant, somatic mosaicism	http://purl.obolibrary.org/obo/MONDO_0030877	https://omim.org/entry/619143	
NCBITaxon:2497570	biolink:OrganismalEntity	Haploviricotina		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2497570		
MONDO:0030876	biolink:Disease	cardioacrofacial dysplasia 1		OMIM:619142	mondo.json	cardioacrofacial dysplasia 1|CAFD1	http://purl.obolibrary.org/obo/MONDO_0030876	https://omim.org/entry/619142	
MONDO:0003296	biolink:Disease	cellular leiomyoma	A morphologic variant of classic leiomyoma characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern.	DOID:5139|UMLS:C0334477|ICDO:8892/0|NCIT:C4256	mondo.json	cellular leiomyoma (morphologic abnormality)|cellular leiomyoma	http://purl.obolibrary.org/obo/MONDO_0003296	DOID:5139|NCIT:C4256|UMLS:C0334477	
MONDO:0003297	biolink:Disease	gallbladder leiomyoma	A benign smooth muscle neoplasm arising from the gallbladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	UMLS:C1333745|NCIT:C5747|DOID:5140	mondo.json	leiomyoma of the gallbladder|leiomyoma of gall bladder|leiomyoma of gallbladder|gall bladder leiomyoma|gallbladder leiomyoma	http://purl.obolibrary.org/obo/MONDO_0003297	DOID:5140|UMLS:C1333745|NCIT:C5747	
MONDO:0003298	biolink:Disease	vulvar leiomyoma	A benign smooth muscle neoplasm arising from the vulva. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	NCIT:C40326|DOID:5142|UMLS:C1520087	mondo.json	vulvar leiomyoma|leiomyoma of mammalian vulva|mammalian vulva leiomyoma	http://purl.obolibrary.org/obo/MONDO_0003298	NCIT:C40326|DOID:5142|UMLS:C1520087	
MONDO:0003299	biolink:Disease	colorectal leiomyoma	A well-circumscribed benign smooth muscle neoplasm arising from the colorectal area. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	NCIT:C5677|UMLS:C1333113|DOID:5143	mondo.json	leiomyoma of the large bowel|leiomyoma of large bowel|leiomyoma of large intestine|colorectal leiomyoma|leiomyoma of the large intestine|large bowel leiomyoma|large intestine leiomyoma|colorectum leiomyoma	http://purl.obolibrary.org/obo/MONDO_0003299	UMLS:C1333113|DOID:5143|NCIT:C5677	
MONDO:0003292	biolink:Disease	anus leiomyoma	A well-circumscribed benign smooth muscle neoplasm arising from the anus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	NCIT:C5608|DOID:5134|UMLS:C1332266	mondo.json	anal leiomyoma|leiomyoma of the anus|anus leiomyoma|leiomyoma of anus	http://purl.obolibrary.org/obo/MONDO_0003292	NCIT:C5608|UMLS:C1332266|DOID:5134	
MONDO:0003293	biolink:Disease	lung leiomyoma	A benign smooth muscle neoplasm arising from the lung. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOID:5136|NCIT:C5660|UMLS:C1334447|SCTID:707374005	mondo.json	leiomyoma of lung|leiomyoma of the lung|lung leiomyoma|pulmonary leiomyoma	http://purl.obolibrary.org/obo/MONDO_0003293	http://identifiers.org/snomedct/707374005|NCIT:C5660|UMLS:C1334447|DOID:5136	
MONDO:0003294	biolink:Disease	pericardium leiomyoma	A benign smooth muscle neoplasm arising from the pericardium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	UMLS:C1335380|DOID:5137|NCIT:C6743	mondo.json	pericardium leiomyoma|leiomyoma of the pericardium|leiomyoma of pericardium|pericardial leiomyoma	http://purl.obolibrary.org/obo/MONDO_0003294	DOID:5137|NCIT:C6743|UMLS:C1335380	
MONDO:0003295	biolink:Disease	leiomyomatosis	A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body.	NCIT:C3748|ICDO:8890/1|MESH:D018231|DOID:5138|UMLS:C0206654	mondo.json	leiomyomatosis, no ICD-O subtype|leiomyomatosis|leiomyomatosis, no ICD-O subtype (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003295	DOID:5138|UMLS:C0206654|http://identifiers.org/mesh/D018231|NCIT:C3748	
MONDO:0003290	biolink:Disease	simple partial epilepsy		DOID:5129|ICD9:345.51	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003290	DOID:5129	
MONDO:0015269	biolink:Disease	symmetrical thalamic calcifications	Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.	Orphanet:1314|GARD:0005070|SCTID:719164000|UMLS:C4304914	mondo.json	bilateral symmetrical thalamic gliosis	http://purl.obolibrary.org/obo/MONDO_0015269	Orphanet:1314|UMLS:C4304914|http://identifiers.org/snomedct/719164000	ordo_disease|gard_rare
MONDO:0003291	biolink:Disease	leiomyoma cutis	A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	UMLS:C0346064|SCTID:254767008|NCIT:C4482|DOID:5132	mondo.json	cutaneous leiomyoma|zone of skin leiomyoma|leiomyoma of skin|skin leiomyoma|cutaneous (skin) leiomyoma|leiomyoma of the skin|leiomyoma of zone of skin|leiomyoma cutis	http://purl.obolibrary.org/obo/MONDO_0003291	http://identifiers.org/snomedct/254767008|NCIT:C4482|UMLS:C0346064|DOID:5132	
MONDO:0015268	biolink:Disease	medullary sponge kidney	Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics.	MESH:D007691|Orphanet:1309|UMLS:C0022681|NCIT:C34751|OMIM:174000|MedDRA:10027104|ICD9:753.17|GARD:0000232|SCTID:236443009	mondo.json	Cacchi Ricci disease|Cacchi-Ricci syndrome|Cacchi-Ricci disease|Precalyceal canalicular ectasia|Precalicial canalicular ectasia|cystic dilatation of renal collecting tubes|MSK|sponge kidney	http://purl.obolibrary.org/obo/MONDO_0015268	Orphanet:1309|NCIT:C34751|http://identifiers.org/mesh/D007691|UMLS:C0022681|http://identifiers.org/snomedct/236443009	ordo_morphological_anomaly|gard_rare
MONDO:0015263	biolink:Disease	Brugada syndrome	A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death.	Orphanet:130|MESH:D053840|NCIT:C142891|UMLS:C1142166|SCTID:418818005|MedDRA:10059027|OMIMPS:601144|DOID:0050451|GARD:0001030|ICD9:746.89	mondo.json	Pokkuri death syndrome|dream disease|Brugada type idiopathic ventricular fibrillation|right bundle branch block, ST segment elevation, and sudden death syndrome|Brugada syndrome|SUNDS|sudden unexplained nocturnal death syndrome|sudden unexpected nocturnal death syndrome|idiopathic ventricular fibrillation, Brugada type|Bangungut	http://purl.obolibrary.org/obo/MONDO_0015263	Orphanet:130|DOID:0050451|http://identifiers.org/snomedct/418818005|http://identifiers.org/mesh/D053840|https://omim.org/phenotypicSeries/PS601144|UMLS:C1142166|NCIT:C142891	clingen|ordo_disease
NCBITaxon:2497576	biolink:OrganismalEntity	Ellioviricetes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2497576		
MONDO:0015262	biolink:Disease	brachyolmia	Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.	ICD9:756.19|GARD:0010903|DOID:0050690|UMLS:C0432228|Orphanet:1293|MESH:C537098|SCTID:254088006	mondo.json	brachyrachia	http://purl.obolibrary.org/obo/MONDO_0015262	http://identifiers.org/mesh/C537098|http://identifiers.org/snomedct/254088006|Orphanet:1293|DOID:0050690|UMLS:C0432228	disease_grouping|ordo_group_of_disorders
MONDO:0030881	biolink:Disease	developmental and epileptic encephalopathy 102		OMIM:619881	mondo.json	developmental and epileptic encephalopathy 102|DEE102	http://purl.obolibrary.org/obo/MONDO_0030881	https://omim.org/entry/619881	
MONDO:0015261	biolink:Disease	pseudopelade of Brocq	Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation.	MESH:C531609|SCTID:238731001|GARD:0004536|Orphanet:129|ICD9:704.09	mondo.json	Brocq pseudopelade|pseudo-pelade of Brocq|pseudo pelade of Brocq	http://purl.obolibrary.org/obo/MONDO_0015261	Orphanet:129|http://identifiers.org/snomedct/238731001	ordo_disease|gard_rare
NCBITaxon:2497574	biolink:OrganismalEntity	Monjiviricetes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2497574		
MONDO:0015260	biolink:Disease	diphyllobothriasis	Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells).	ICD9:123.4|GARD:0000942|MedDRA:10013029|MESH:D004169|Orphanet:128|EFO:0007238|DOID:10075|UMLS:C0012561|ICD10CM:B70.0|NCIT:C128391|SCTID:187151009	mondo.json	fish tapeworm|Diphyllobothrium infectious disease|Diphyllobothrium caused disease or disorder|Diphyllobothrium infection|Diphyllobothrium disease or disorder|Bothriocephalosis	http://purl.obolibrary.org/obo/MONDO_0015260	Orphanet:128|http://purl.bioontology.org/ontology/ICD10CM/B70.0|NCIT:C128391|UMLS:C0012561|http://identifiers.org/mesh/D004169|DOID:10075|http://identifiers.org/snomedct/187151009	ordo_disease
MONDO:0030883	biolink:Disease	carpal tunnel syndrome 2		OMIM:619161	mondo.json	CTS2|carpal tunnel syndrome 2	http://purl.obolibrary.org/obo/MONDO_0030883	https://omim.org/entry/619161	
MONDO:0015267	biolink:Disease	Feingold syndrome	Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures.	Orphanet:1305|GARD:0008407|DOID:0060464|NCIT:C74987|OMIMPS:164280	mondo.json	digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|FGLDS|MMT|MODED syndrome|ODED syndrome|oculo-digito-esophageal-duodenal syndrome|FS|microcephaly-digital anomalies-normal intelligence syndrome|microcephaly-oculo-digito-esophageal-duodenal syndrome|microcephaly-intellectual disability-tracheoesophageal fistula syndrome|digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum|microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome|Brunner-Winter syndrome	http://purl.obolibrary.org/obo/MONDO_0015267	https://omim.org/phenotypicSeries/PS164280|Orphanet:1305|DOID:0060464|NCIT:C74987	ordo_malformation_syndrome
MONDO:0054831	biolink:Disease	Coffin-Siris syndrome 7	Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the DPF2 gene.	OMIM:618027|UMLS:CN248780	mondo.json	COFFIN-SIRIS syndrome 7|CSS7	http://purl.obolibrary.org/obo/MONDO_0054831	https://omim.org/entry/618027|UMLS:CN248780	
NCBITaxon:34632	biolink:OrganismalEntity	Rhipicephalus sanguineus		GC_ID:1	mondo.json	brown dog tick|Ixodes sanguineus	http://purl.obolibrary.org/obo/NCBITaxon_34632		
MONDO:0015266	biolink:Disease	obsolete brucellosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015266		
MONDO:0015265	biolink:Disease	bronchiolitis obliterans with obstructive pulmonary disease	Bronchiolitis obliterans syndrome (BOS) is a lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction.	GARD:0009551|HP:0011946|ICD9:466.19|EFO:0007183|Orphanet:1303|UMLS:CN199179|ICD9:491.8|DOID:2799|NCIT:C62580|SCTID:40100001	mondo.json	bo|bronchiolitis obliterans|organizing pneumonia|BOOP|constrictive bronchiolitis|bronchiolitis fibrosa obliterans|bronchiolitis exudativa|obliterative bronchiolitis|organized pneumonia	http://purl.obolibrary.org/obo/MONDO_0015265	Orphanet:1303|UMLS:CN199179|NCIT:C62580|DOID:2799|http://identifiers.org/snomedct/40100001	gard_rare|ordo_disease
MONDO:0030880	biolink:Disease	mandibuloacral dysplasia progeroid syndrome		OMIM:619127	mondo.json	MDPS	http://purl.obolibrary.org/obo/MONDO_0030880	https://omim.org/entry/619127	
MONDO:0015264	biolink:Disease	cryptogenic organizing pneumonia	Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found.	ICD10CM:J84.116|MESH:D018549|GARD:0005961|EFO:1001300|Orphanet:1302|ICD9:516.36|GARD:0001620|DOID:0050157|UMLS:C0242770|SCTID:719218000|SCTID:68409003|NCIT:C62586	mondo.json	idiopathic BOOP|COP|bronchiolitis obliterans organizing pneumonia|idiopathic bronchiolitis obliterans organizing pneumonia|constrictive bronchiolitis|idiopathic bronchiolitis obliterans with organizing pneumonia|cryptogenic organizing pneumonitis|organizing pneumonia	http://purl.obolibrary.org/obo/MONDO_0015264	http://identifiers.org/snomedct/68409003|http://identifiers.org/snomedct/719218000|UMLS:C0242770|Orphanet:1302|DOID:0050157|http://purl.bioontology.org/ontology/ICD10CM/J84.116|NCIT:C62586|http://identifiers.org/mesh/D018549	gard_rare|ordo_disease
NCBITaxon:2497577	biolink:OrganismalEntity	Insthoviricetes		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2497577		
NCBITaxon:34630	biolink:OrganismalEntity	Rhipicephalus <genus>		GC_ID:1|PMID:14707501	mondo.json	Rhipicephalus	http://purl.obolibrary.org/obo/NCBITaxon_34630		
MONDO:0005846	biolink:Disease	microsporidiosis	A fungal infection caused by Microsporidia. It occurs in immunocompromised patients, causing diarrhea and wasting.	DOID:4271|MESH:D016881|MedDRA:10053982|SCTID:699676006|NCIT:C84891|GARD:0003655|Orphanet:2552|ICD9:117.9|UMLS:C0085407|EFO:0007366	mondo.json	infection by Microsporida|Microsporidia infection|Microsporidia disease or disorder|infection by Microspora|Microsporidiasis|Microsporidia infectious disease|Microsporidia caused disease or disorder|infection by Microsporea	http://purl.obolibrary.org/obo/MONDO_0005846	NCIT:C84891|http://identifiers.org/mesh/D016881|Orphanet:2552|UMLS:C0085407|DOID:4271|http://identifiers.org/snomedct/699676006	ordo_disease|gard_rare
MONDO:0029813	biolink:Disease	obsolete laminopathy with premature aging		Orphanet:300766	mondo.json		http://purl.obolibrary.org/obo/MONDO_0029813	Orphanet:300766	
MONDO:0029812	biolink:Disease	obsolete laminopathy with lipodystrophy		Orphanet:300763	mondo.json		http://purl.obolibrary.org/obo/MONDO_0029812	Orphanet:300763	
MONDO:0005845	biolink:Disease	meningoencephalitis	Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan.	SCTID:7125002|UMLS:C0025309|NCIT:C34813|DOID:10554|EFO:0007364|MESH:D008590	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005845	http://identifiers.org/snomedct/7125002|UMLS:C0025309|http://identifiers.org/mesh/D008590|NCIT:C34813|DOID:10554	
MONDO:0030801	biolink:Disease	monosomy 7 myelodysplasia and leukemia syndrome 2		OMIM:619041	mondo.json	monosomy 7 myelodysplasia and leukemia syndrome 2|M7MLS2	http://purl.obolibrary.org/obo/MONDO_0030801	https://omim.org/entry/619041	
MONDO:0005848	biolink:Disease	miliary tuberculosis	I would say the hematogenous widespread dissemination of tuberculosis in the body. The term derives from the chest X-ray image of the tiny (1-5 mm) tuberculosis lesions which are seen through out the lung parenchyma.	ICD9:018.90|SCTID:47604008|MESH:D014391|UMLS:C0152915|ICD9:018|ICD9:018.80|UMLS:C0041321|EFO:0007368|ICD9:018.9|NCIT:C35086|ICD10CM:A19|DOID:9861	mondo.json	generalized tuberculosis|disseminated tuberculosis|tuberculosis miliaris disseminata|acute miliary tuberculosis	http://purl.obolibrary.org/obo/MONDO_0005848	DOID:9861|NCIT:C35086|UMLS:C0152915|http://identifiers.org/mesh/D014391|http://purl.bioontology.org/ontology/ICD10CM/A19|UMLS:C0041321|http://identifiers.org/snomedct/47604008	
MONDO:0029811	biolink:Disease	obsolete laminopathy with peripheral neuropathy		Orphanet:300758	mondo.json		http://purl.obolibrary.org/obo/MONDO_0029811	Orphanet:300758	
MONDO:0005847	biolink:Disease	middle lobe syndrome	Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed)	SCTID:28295001|DOID:2810|MESH:D008878|EFO:0007367|UMLS:C0026069	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005847	UMLS:C0026069|http://identifiers.org/snomedct/28295001|http://identifiers.org/mesh/D008878|DOID:2810	
MONDO:0029810	biolink:Disease	obsolete laminopathy with striated muscle involvement		Orphanet:300755	mondo.json		http://purl.obolibrary.org/obo/MONDO_0029810	Orphanet:300755	
MONDO:0005842	biolink:Disease	maxillary sinusitis	An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus.	EFO:0007361|SCTID:88348008|DOID:2051|NCIT:C34809|UMLS:C0024959|MESH:D015523	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005842	http://identifiers.org/mesh/D015523|NCIT:C34809|DOID:2051|http://identifiers.org/snomedct/88348008|UMLS:C0024959	
MONDO:0005841	biolink:Disease	maxillary neoplasm	Cancer or tumors of the maxilla or upper jaw.	SCTID:126550004|UMLS:C0024954|EFO:0007360|DOID:4618|MESH:D008441	mondo.json	bone of upper jaw neoplasm|upper jaw bone cancer|tumor of bone of upper jaw|maxillary cancer|bone of upper jaw neoplasm (disease)|maxillary neoplasm|neoplasm of bone of upper jaw|bone of upper jaw tumor	http://purl.obolibrary.org/obo/MONDO_0005841	http://identifiers.org/mesh/D008441|DOID:4618|UMLS:C0024954|http://identifiers.org/snomedct/126550004	
MONDO:0005844	biolink:Disease	chalazion	An eyelid cyst caused by the blockage of a meibomian gland.	ICD10CM:H00.1|UMLS:C0007933|NCIT:C26717|DOID:9903|SCTID:1482004|ICD9:373.2|MESH:D017043|EFO:0007363	mondo.json	chalazion|chalazia|Meibomian cyst|meibomian gland lipogranuloma|cyst, Meibomian	http://purl.obolibrary.org/obo/MONDO_0005844	http://identifiers.org/snomedct/1482004|UMLS:C0007933|http://identifiers.org/mesh/D017043|NCIT:C26717|DOID:9903|http://purl.bioontology.org/ontology/ICD10CM/H00.1	
MONDO:0030800	biolink:Disease	cholestasis, progressive familial intrahepatic, 9		OMIM:619849	mondo.json	PFIC9|cholestasis, progressive familial intrahepatic, 9	http://purl.obolibrary.org/obo/MONDO_0030800	https://omim.org/entry/619849	
MONDO:0005843	biolink:Disease	mediastinal cancer	A malignant neoplasm involving the mediastinum	NCIT:C3549|ICD9:164.9|DOID:5559|MESH:D008479|SCTID:363494000|EFO:0007362	mondo.json	malignant neoplasm of mediastinum|mediastinal tumor|malignant mediastinal tumor|malignant mediastinal neoplasm|malignant neoplasm of the mediastinum|mediastinum cancer|malignant mediastinum neoplasm|malignant tumor of the mediastinum|malignant tumor of mediastinum|mediastinal cancer|cancer of mediastinum|cancer of the mediastinum|tumour of mediastinum	http://purl.obolibrary.org/obo/MONDO_0005843	NCIT:C3549|DOID:5559|http://identifiers.org/snomedct/363494000|http://identifiers.org/mesh/D008479	
CHEBI:50817	biolink:ChemicalSubstance	iron oxide mineral			mondo.json	iron oxide minerals	http://purl.obolibrary.org/obo/CHEBI_50817		
MONDO:0030809	biolink:Disease	spermatogenic failure 72		OMIM:619867	mondo.json	SPGF72|spermatogenic failure 72	http://purl.obolibrary.org/obo/MONDO_0030809	https://omim.org/entry/619867	
GO:0046326	biolink:NamedThing	positive regulation of glucose import	Any process that activates or increases the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle.		mondo.json	up-regulation of glucose import|activation of glucose import|upregulation of glucose import|up regulation of glucose import|positive regulation of glucose uptake|stimulation of glucose import	http://purl.obolibrary.org/obo/GO_0046326		
CHEBI:50816	biolink:ChemicalSubstance	iron oxide			mondo.json		http://purl.obolibrary.org/obo/CHEBI_50816		
GO:0046325	biolink:NamedThing	negative regulation of glucose import	Any process that stops, prevents, or reduces the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle.		mondo.json	downregulation of glucose import|down regulation of glucose import|inhibition of glucose import|down-regulation of glucose import|negative regulation of glucose uptake	http://purl.obolibrary.org/obo/GO_0046325		
MONDO:0005840	biolink:Disease	obsolete mast-cell leukemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005840		
GO:0046324	biolink:NamedThing	regulation of glucose import	Any process that modulates the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle.		mondo.json	regulation of glucose uptake	http://purl.obolibrary.org/obo/GO_0046324		
CHEBI:37838	biolink:ChemicalSubstance	carboacyl group	A carboacyl group is a group formed by loss of at least one OH from the carboxy group of a carboxylic acid.		mondo.json	carboxylic acyl group|carboxylic acyl groups|carboacyl groups	http://purl.obolibrary.org/obo/CHEBI_37838		
MONDO:0017828	biolink:Disease	primary renal tubular acidosis		Orphanet:314822	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017828	Orphanet:314822	ordo_group_of_disorders|disease_grouping
CHR:9606-chrXp2	biolink:NamedThing	Xp2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chrXp2		
GO:0046323	biolink:NamedThing	glucose import	The directed movement of the hexose monosaccharide glucose into a cell or organelle.		mondo.json	glucose uptake	http://purl.obolibrary.org/obo/GO_0046323		
UBERON:0014463	biolink:AnatomicalEntity	cardiac ganglion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014463		
GO:0046322	biolink:NamedThing	negative regulation of fatty acid oxidation	Any process that stops, prevents, or reduces the frequency, rate or extent of fatty acid oxidation.		mondo.json	downregulation of fatty acid oxidation|down regulation of fatty acid oxidation|inhibition of fatty acid oxidation|down-regulation of fatty acid oxidation	http://purl.obolibrary.org/obo/GO_0046322		
UBERON:0014464	biolink:AnatomicalEntity	renal fat pad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014464		
MONDO:0017829	biolink:Disease	autosomal dominant proximal renal tubular acidosis	Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications.	UMLS:CN203801|Orphanet:314889	mondo.json	AD pRTA|proximal renal tubular acidosis, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0017829	UMLS:CN203801|Orphanet:314889	ordo_clinical_subtype
CHR:9606-chrXp1	biolink:NamedThing	Xp1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chrXp1		
GO:0046321	biolink:NamedThing	positive regulation of fatty acid oxidation	Any process that activates or increases the frequency, rate or extent of fatty acid oxidation.		mondo.json	up regulation of fatty acid oxidation|stimulation of fatty acid oxidation|up-regulation of fatty acid oxidation|activation of fatty acid oxidation|upregulation of fatty acid oxidation	http://purl.obolibrary.org/obo/GO_0046321		
CHEBI:50819	biolink:ChemicalSubstance	ferric oxide			mondo.json	Eisentrioxid|iron(3+) oxide|iron(III) oxide|Eisen(III)-oxid|iron trioxide|diiron trioxide	http://purl.obolibrary.org/obo/CHEBI_50819		
CHEBI:50818	biolink:ChemicalSubstance	hematite			mondo.json	hematite|haematite|oligiste|hematita|Blutstein|Haematit|blood stone|oligist	http://purl.obolibrary.org/obo/CHEBI_50818		
GO:0046320	biolink:NamedThing	regulation of fatty acid oxidation	Any process that modulates the frequency, rate or extent of fatty acid oxidation.		mondo.json		http://purl.obolibrary.org/obo/GO_0046320		
UBERON:0014466	biolink:AnatomicalEntity	subarachnoid fissure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014466		
NCBITaxon:46682	biolink:OrganismalEntity	Heterakoidea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_46682		
MONDO:0017835	biolink:Disease	lymphocytic hypereosinophilic syndrome		UMLS:CN203810|Orphanet:314970	mondo.json	lymphocytic variant HES|lymphoid HES|HES-L	http://purl.obolibrary.org/obo/MONDO_0017835	UMLS:CN203810|Orphanet:314970	ordo_clinical_subtype
CL:0002144	biolink:Cell	capillary endothelial cell	An endothelial cell found in capillaries.	BTO:0004956|FMA:67756|CALOHA:TS-0112	mondo.json		http://purl.obolibrary.org/obo/CL_0002144		
UBERON:0002481	biolink:AnatomicalEntity	bone tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002481		
MONDO:0017836	biolink:Disease	erythrokeratoderma en cocardes	Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterised by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis. Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant.	UMLS:CN203813|Orphanet:315|GARD:0001722|UMLS:C0221011|SCTID:239062001|ICD9:447.8	mondo.json	erythrokeratoderma 'en cocardes'|Degos 'en cocarde' erythrokeratoderma|Degos genodermatosis 'en cocardes'|Degos genodermatosis "en cocardes"|Degos genodermatosis|erythrokeratoderma "en cocardes"|erythrokeratoderma ''en cocardes''	http://purl.obolibrary.org/obo/MONDO_0017836	UMLS:CN203813|http://identifiers.org/snomedct/239062001|Orphanet:315	ordo_disease|gard_rare
MONDO:0017837	biolink:Disease	multiple sclerosis-ichthyosis-factor VIII deficiency syndrome	Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.	Orphanet:3151|UMLS:CN203814	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017837	Orphanet:3151|UMLS:CN203814	ordo_disease
CHEBI:84144	biolink:ChemicalSubstance	L-phenylalanine derivative	A proteinogenic amino acid derivative resulting from reaction of L-phenylalanine  at the amino group or the carboxy group, or from the replacement of any hydrogen of L-phenylalanine  by a heteroatom.		mondo.json	L-phenylalanine derivatives	http://purl.obolibrary.org/obo/CHEBI_84144		
NCBITaxon:46684	biolink:OrganismalEntity	Ascaridia		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_46684		
MONDO:0017838	biolink:Disease	sclerosteosis	Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.	NCIT:C131133|OMIMPS:269500|UMLS:C0265301|MESH:C537525|ICD9:756.59|SCTID:17568006|DOID:0060251|GARD:0004771|Orphanet:3152	mondo.json	cortical hyperostosis-syndactyly syndrome|cortical hyperostosis with syndactyly	http://purl.obolibrary.org/obo/MONDO_0017838	http://identifiers.org/snomedct/17568006|Orphanet:3152|https://omim.org/phenotypicSeries/PS269500|UMLS:C0265301|http://identifiers.org/mesh/C537525|NCIT:C131133|DOID:0060251	ordo_malformation_syndrome
CL:0002145	biolink:Cell	ciliated columnar cell of tracheobronchial tree	A ciliated columnar cell found in the trachea and bronchus. Vary from low to tall columnar; possesses up to 300 cilia at its surface, interspersed with long irregular microvilli with the cilia varying in length from about 6um in the trachea to about 4um in the terminal bronchioles; driving force of the ciliary current in the bronchial tree.	FMA:70542	mondo.json		http://purl.obolibrary.org/obo/CL_0002145		
CHEBI:84143	biolink:ChemicalSubstance	D-phenylalanine derivative	A non-proteinogenic amino acid derivative resulting from reaction of D-phenylalanine at the amino group or the carboxy group, or from the replacement of any hydrogen of D-phenylalanine by a heteroatom.		mondo.json	D-phenylalanine derivatives	http://purl.obolibrary.org/obo/CHEBI_84143		
NCBITaxon:46683	biolink:OrganismalEntity	Ascaridiidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_46683		
CL:0002148	biolink:Cell	dental pulp cell	A cell found within the dental pulp.	BTO:0000339|CALOHA:TS-0195|FMA:87170	mondo.json		http://purl.obolibrary.org/obo/CL_0002148		
MONDO:0017831	biolink:Disease	mild Canavan disease	Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.	Orphanet:314918	mondo.json	juvenile Canavan disease	http://purl.obolibrary.org/obo/MONDO_0017831	Orphanet:314918	ordo_clinical_subtype
MONDO:0017832	biolink:Disease	mycobacterium xenopi infection	A disease caused by infection with Mycobacterium xenopi.	Orphanet:314946|GARD:0010550|UMLS:C0275715	mondo.json	Mycobacterium xenopi disease or disorder|M. xenopi|Mycobacterium xenopi infectious disease|Mycobacterium xenopi caused disease or disorder|Mycobacterium xenopi	http://purl.obolibrary.org/obo/MONDO_0017832	UMLS:C0275715|Orphanet:314946	ordo_disease
MONDO:0017833	biolink:Disease	primary hypereosinophilic syndrome		Orphanet:314950|UMLS:CN203808	mondo.json	clonal hypereosinophilic syndrome|primary HES|neoplastic hypereosinophilic syndrome|HES-N|HES-M	http://purl.obolibrary.org/obo/MONDO_0017833	UMLS:CN203808|Orphanet:314950	ordo_disease
MONDO:0017834	biolink:Disease	secondary hypereosinophilic syndrome		UMLS:CN203809|Orphanet:314962	mondo.json	HES-R|secondary HES|reactive hypereosinophilic syndrome	http://purl.obolibrary.org/obo/MONDO_0017834	UMLS:CN203809|Orphanet:314962	ordo_disease
CL:0002149	biolink:Cell	epithelial cell of uterus	An epithelial cell of the uterus.	FMA:256161	mondo.json		http://purl.obolibrary.org/obo/CL_0002149		
NCBITaxon:2267273	biolink:OrganismalEntity	Dibothriocephalus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2267273		
MONDO:0017830	biolink:Disease	severe Canavan disease	Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.	Orphanet:314911|UMLS:CN203803	mondo.json	neonatal Canavan disease|infantile Canavan disease	http://purl.obolibrary.org/obo/MONDO_0017830	Orphanet:314911|UMLS:CN203803	ordo_clinical_subtype
HGNC:9220	biolink:NamedThing	POU4F3			mondo.json		http://identifiers.org/hgnc/9220		
MONDO:0005839	biolink:Disease	obsolete Marburg hemorrhagic fever			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005839		
CL:0002140	biolink:Cell	acinar cell of sebaceous gland	A sebum secreting cell of the skin that secretes sebum into the hair follicles.	BTO:0004613|FMA:70953	mondo.json	sebocyte	http://purl.obolibrary.org/obo/CL_0002140		
UBERON:0002485	biolink:AnatomicalEntity	prostate duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002485		
MONDO:0005838	biolink:Disease	mansonelliasis	A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia.	DOID:1081|SCTID:240849009|NCIT:C84882|Orphanet:2459|ICD10CM:B74.4|UMLS:C0024759|EFO:0007357|GARD:0008216|MESH:D008368	mondo.json	Mansonella perstans infections|Mansonellosis	http://purl.obolibrary.org/obo/MONDO_0005838	NCIT:C84882|Orphanet:2459|http://identifiers.org/mesh/D008368|http://purl.bioontology.org/ontology/ICD10CM/B74.4|http://identifiers.org/snomedct/240849009|UMLS:C0024759|DOID:1081	gard_rare|ordo_disease
SO:0001645	biolink:SequenceFeature	genetic_marker	A measurable sequence feature that varies within a population.		mondo.json	genetic marker	http://purl.obolibrary.org/obo/SO_0001645		
UBERON:0002486	biolink:AnatomicalEntity	glottis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002486		
MONDO:0005857	biolink:Disease	morbillivirus infectious disease	Infections with viruses of the genus morbillivirus, family paramyxoviridae. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions.	UMLS:C0206614|EFO:0007377|MESH:D018185	mondo.json	Morbillivirus disease or disorder|Morbillivirus infectious disease|Morbillivirus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005857	UMLS:C0206614|http://identifiers.org/mesh/D018185	
MONDO:0030813	biolink:Disease	immunodeficiency 101 (varicella zoster virus-specific)		OMIM:619872	mondo.json	IMD101|immunodeficiency 101 (varicella zoster virus-specific)	http://purl.obolibrary.org/obo/MONDO_0030813	https://omim.org/entry/619872	
MONDO:0005856	biolink:Disease	Mononegavirales infectious disease	Infections with viruses of the order mononegavirales. The concept includes filoviridae infections; paramyxoviridae infections; and rhabdoviridae infections.	MESH:D018701|UMLS:C0242916|EFO:0007376	mondo.json	Mononegavirales caused disease or disorder|Mononegavirales disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005856	UMLS:C0242916|http://identifiers.org/mesh/D018701	
MONDO:0005859	biolink:Disease	mucocutaneous leishmaniasis	The most common form of leishmaniasis that is transmitted through the bite of female phlebotomine sand flies or after exposure to leishmania parasites. It is characterized by skin lesions at the site of insect bite which typically develop within weeks or months after exposure. The lesions typically progress from small papules to open sores with raised borders and central ulcers which can be covered with scales or crust.	ICD10CM:B55.2|UMLS:C1328252|ICD9:085.5|MESH:D007897|EFO:0007379|UMLS:C3495436|NCIT:C34769|DOID:9155	mondo.json	cutaneous leishmaniasis, American|New World cutaneous leishmaniasis|American cutaneous leishmaniasis|mucocutaneous leishmaniasis, American|mucocutaneous leishmaniasis, (American)|American mucocutaneous leishmaniasis	http://purl.obolibrary.org/obo/MONDO_0005859	UMLS:C1328252|UMLS:C3495436|NCIT:C34769|http://identifiers.org/mesh/D007897|http://purl.bioontology.org/ontology/ICD10CM/B55.2|DOID:9155	
MONDO:0030815	biolink:Disease	cholestasis, progressive familial intrahepatic, 11		OMIM:619874	mondo.json	PFIC11|cholestasis, progressive familial intrahepatic, 11	http://purl.obolibrary.org/obo/MONDO_0030815	https://omim.org/entry/619874	
MONDO:0005858	biolink:Disease	mucinous cystadenocarcinoma	An invasive adenocarcinoma characterized by cystic changes and the presence of malignant glandular cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung.	DOID:3603|ICDO:8470/3|MESH:D018282|UMLS:C0206699|EFO:0007378|NCIT:C3776	mondo.json	mucinous cystadenocarcinoma NOS (morphologic abnormality)|mucinous cystadenocarcinoma (morphologic abnormality)|Pseudomucinous cystadenocarcinoma|mucinous cystadenocarcinoma|Pseudomucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005858	NCIT:C3776|UMLS:C0206699|DOID:3603|http://identifiers.org/mesh/D018282	
UBERON:0014451	biolink:AnatomicalEntity	tongue taste bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014451		
MONDO:0005853	biolink:Disease	malignant mixed neoplasm	A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung.	EFO:1000356|DOID:154|MESH:D018198|UMLS:C0206625|EFO:0007373|NCIT:C3729|ICDO:8940/3	mondo.json	malignant mixed tumor|tumor, mixed, malignant|tumors, malignant mixed|mixed tumors, malignant|mixed tumor|malignant mixed cancer|mixed neoplasm, malignant|mixed tumor, malignant (morphologic abnormality)|malignant mixed neoplasm|malignant mixed tumors|mixed cell type cancer|mixed tumor, malignant, NOS (morphologic abnormality)|mixed neoplasm|mixed tumor, malignant|tumor, malignant mixed	http://purl.obolibrary.org/obo/MONDO_0005853	DOID:154|UMLS:C0206625|http://identifiers.org/mesh/D018198|NCIT:C3729	
GO:1900404	biolink:NamedThing	obsolete positive regulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter	OBSOLETE. A positive regulation of transcription from RNA polymerase II promoter that results in positive regulation of DNA repair.		mondo.json	up regulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|stimulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|up-regulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|activation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|upregulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_1900404		
MONDO:0005852	biolink:Disease	mitral valve stenosis	Narrowing of the left atrioventricular mitral orifice.	DOID:1754|UMLS:C0026269|MESH:D008946|SCTID:79619009|EFO:0007372	mondo.json	mitral stenosis|mitral valve stenoses|mitral stenoses|valve stenoses, mitral|stenoses, mitral|stenoses, mitral valve|stenosis, mitral|stenosis, mitral valve|valve stenosis, mitral	http://purl.obolibrary.org/obo/MONDO_0005852	UMLS:C0026269|http://identifiers.org/snomedct/79619009|http://identifiers.org/mesh/D008946|DOID:1754	
GO:1900403	biolink:NamedThing	obsolete negative regulation of cellular amino acid biosynthetic process by negative regulation of transcription from RNA polymerase II promoter	OBSOLETE. A negative regulation of transcription from RNA polymerase II promoter that results in negative regulation of cellular amino acid biosynthetic process.		mondo.json	negative regulation of cellular amino acid biosynthesis by negative regulation of transcription from RNA polymerase II promoter|negative regulation of amino acid biosynthetic process by negative regulation of transcription from RNA polymerase II promoter|negative regulation of cellular amino acid anabolism by negative regulation of transcription from RNA polymerase II promoter|negative regulation of cellular amino acid synthesis by negative regulation of transcription from RNA polymerase II promoter|negative regulation of cellular amino acid formation by negative regulation of transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_1900403		
MONDO:0005855	biolink:Disease	molluscum contagiosum	A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (molluscum contagiosum virus). (Dorland, 27th ed)	ICD10CM:B08.1|SCTID:40070004|MESH:D008976|UMLS:C0026393|DOID:8867|ICD9:078.0|EFO:0007375	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005855	UMLS:C0026393|http://purl.bioontology.org/ontology/ICD10CM/B08.1|http://identifiers.org/mesh/D008976|http://identifiers.org/snomedct/40070004|DOID:8867	
MONDO:0030810	biolink:Disease	cholestasis, progressive familial intrahepatic, 10		OMIM:619868	mondo.json	PFIC10|cholestasis, progressive familial intrahepatic, 10	http://purl.obolibrary.org/obo/MONDO_0030810	https://omim.org/entry/619868	
MONDO:0005854	biolink:Disease	mixed connective tissue disease	Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms.	NCIT:C84892|UMLS:C0026272|GARD:0007051|SCTID:398049005|MedDRA:10027754|Orphanet:809|EFO:0007374|MESH:D008947|DOID:3492	mondo.json	mixed collagen vascular disease|MCTD|connective tissue disease overlap syndrome|sharp syndrome	http://purl.obolibrary.org/obo/MONDO_0005854	UMLS:C0026272|Orphanet:809|DOID:3492|http://identifiers.org/mesh/D008947|http://identifiers.org/snomedct/398049005|NCIT:C84892	gard_rare|ordo_disease
CHEBI:25865	biolink:ChemicalSubstance	penicillanic acids			mondo.json		http://purl.obolibrary.org/obo/CHEBI_25865		
MONDO:0005851	biolink:Disease	Miller Fisher syndrome	An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia.	SCTID:1767005|GARD:0003668|MedDRA:10049567|UMLS:C0393799|NCIT:C116958|MESH:D019846|Orphanet:98919|DOID:12889|EFO:0007371	mondo.json	syndrome, Fisher|Fisher syndrome|syndrome, Miller Fisher|Miller-Fisher syndrome|Miller Fisher variant of Guillain Barre syndrome|Fisher's syndrome|syndrome, Miller-Fisher|ophthalmoplegia, ataxia and areflexia syndrome|cranial variant of Guillain-Barre syndrome|Guillain-Barre syndrome, Miller Fisher variant|Guillain Barre syndrome, Miller Fisher variant|cranial variant of Guillain-Barré syndrome|cranial variant of GBS|Miller-Fisher variant of Guillain-Barre syndrome	http://purl.obolibrary.org/obo/MONDO_0005851	NCIT:C116958|Orphanet:98919|http://identifiers.org/mesh/D019846|DOID:12889|UMLS:C0393799|http://identifiers.org/snomedct/1767005	ordo_disease
GO:1900402	biolink:NamedThing	obsolete regulation of carbohydrate metabolic process by regulation of transcription from RNA polymerase II promoter	OBSOLETE. A regulation of transcription from RNA polymerase II promoter that results in regulation of carbohydrate metabolic process.		mondo.json	regulation of carbohydrate metabolism by regulation of transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_1900402		
CHEBI:37848	biolink:ChemicalSubstance	plant hormone	A plant growth regulator that modulates the formation of stems, leaves and flowers, as well as the development and ripening of fruit. The term includes endogenous and non-endogenous compounds (e.g. active compounds produced by bacteria on the leaf surface) as well as semi-synthetic and fully synthetic compounds.		mondo.json	phytohormones|phytohormone|plant hormones|plant growth hormones|plant growth factor|plant growth factors|plant growth hormone	http://purl.obolibrary.org/obo/CHEBI_37848		
MONDO:0005850	biolink:Disease	milker's nodule	Virus diseases caused by the poxviridae.	SCTID:27240009|DOID:8729|ICD9:051.9|MESH:D011213|UMLS:C0026143|ICD9:051.1|EFO:0007370	mondo.json	Paravaccinia|milkers' node|Pseudocowpox|milker nodule	http://purl.obolibrary.org/obo/MONDO_0005850	http://identifiers.org/snomedct/27240009|http://identifiers.org/mesh/D011213|DOID:8729|UMLS:C0026143	
UBERON:0014452	biolink:AnatomicalEntity	gustatory epithelium of tongue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014452		
MONDO:0017817	biolink:Disease	primary localized amyloidosis	Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin.	Orphanet:314709	mondo.json	localized AL amyloidosis	http://purl.obolibrary.org/obo/MONDO_0017817	Orphanet:314709	ordo_clinical_subtype
MONDO:0017818	biolink:Disease	lethal arteriopathy syndrome due to fibulin-4 deficiency		Orphanet:314718|UMLS:CN203788	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017818	Orphanet:314718|UMLS:CN203788	ordo_disease
UBERON:0014453	biolink:AnatomicalEntity	gustatory epithelium of palate			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014453		
CHR:9606-chrXq2	biolink:NamedThing	Xq2 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chrXq2		
MONDO:0030819	biolink:Disease	meckel syndrome 14		OMIM:619879	mondo.json	meckel syndrome 14|MKS14	http://purl.obolibrary.org/obo/MONDO_0030819	https://omim.org/entry/619879	
MONDO:0017819	biolink:Disease	atypical dentin dysplasia due to SMOC2 deficiency		UMLS:CN203789|Orphanet:314721	mondo.json	dentin dysplasia type 1 with microdontia and shape anomalies	http://purl.obolibrary.org/obo/MONDO_0017819	Orphanet:314721|UMLS:CN203789	ordo_clinical_subtype
UBERON:0014454	biolink:AnatomicalEntity	visceral abdominal adipose tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014454		
MONDO:0030818	biolink:Disease	spermatogenic failure 73		OMIM:619878	mondo.json	spermatogenic failure 73|SPGF73	http://purl.obolibrary.org/obo/MONDO_0030818	https://omim.org/entry/619878	
UBERON:0014455	biolink:AnatomicalEntity	subcutaneous abdominal adipose tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014455		
MONDO:0017824	biolink:Disease	familial isolated pituitary adenoma		UMLS:CN239192|UMLS:CN244420|OMIMPS:102200|Orphanet:314777|SCTID:702375004|ICD10CM:D35.2	mondo.json	FIPA	http://purl.obolibrary.org/obo/MONDO_0017824	UMLS:CN244420|UMLS:CN239192|https://omim.org/phenotypicSeries/PS102200|Orphanet:314777|http://identifiers.org/snomedct/702375004	ordo_disease
UBERON:0002470	biolink:AnatomicalEntity	autopod region			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002470		
MONDO:0017825	biolink:Disease	silent pituitary adenoma		ICD10CM:D35.2|UMLS:CN203795|Orphanet:314786	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017825	UMLS:CN203795|Orphanet:314786	ordo_histopathological_subtype
MONDO:0017826	biolink:Disease	null pituitary adenoma		ICD10CM:D35.2|Orphanet:314790|UMLS:CN203796	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017826	UMLS:CN203796|Orphanet:314790	ordo_histopathological_subtype
UBERON:0002472	biolink:AnatomicalEntity	stylopod			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002472		
MONDO:0017827	biolink:Disease	malignant peripheral nerve sheath tumor	Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites.	SCTID:404037002|ICDO:9540/3|ICDO:9560/3|ONCOTREE:MPNST|ICD9:171.9|GARD:0010872|Orphanet:3148|UMLS:C0751690|DOID:5940|MedDRA:10029236|NCIT:C3798	mondo.json	malignant neurilemmoma|malignant neurilemoma|malignant peripheral nerve sheath tumor [dup] (morphologic abnormality)|malignant peripheral nerve sheath tumour|neurogenic sarcoma|malignant schwannoma|malignant neoplasm of peripheral nerve sheath|malignant neurofibroma|malignant neoplasm of the peripheral nerve sheath|malignant peripheral nerve sheath tumor|schwannoma, malignant|malignant peripheral nerve sheath tumor (morphologic abnormality)|malignant tumor of the peripheral nerve sheath|Malig. periph. nerve sheath tum.|malignant peripheral nerve sheath neoplasm|neurofibrosarcoma, malignant|malignant tumor of peripheral nerve sheath|MPNST|neurofibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0017827	Orphanet:3148|NCIT:C3798|DOID:5940|UMLS:C0751690|http://identifiers.org/snomedct/404037002	ordo_disease
UBERON:0002471	biolink:AnatomicalEntity	zeugopod			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002471		
MONDO:0017820	biolink:Disease	obsolete obsolete disease with Cushing syndrome as a major feature	OBSOLETE. A disease in which Cushing syndrome is a major feature.	Orphanet:314749|UMLS:CN203791	mondo.json	rare disease with Cushing syndrome as a major feature	http://purl.obolibrary.org/obo/MONDO_0017820	UMLS:CN203791|Orphanet:314749	
CL:0002159	biolink:Cell	general ecto-epithelial cell	Epithelial cells derived from general body ectoderm and ectoderm placodes.	FMA:70556	mondo.json		http://purl.obolibrary.org/obo/CL_0002159		
CHEBI:13850	biolink:ChemicalSubstance	apoprotein	An apoprotein is a protein devoid of its characteristic prosthetic group or metal.		mondo.json	apoprotein|apoproteins	http://purl.obolibrary.org/obo/CHEBI_13850		
MONDO:0017821	biolink:Disease	obsolete functioning pituitary adenoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017821		
MONDO:0017822	biolink:Disease	mixed functioning pituitary adenoma		UMLS:C0346305|Orphanet:314759|SCTID:254961003	mondo.json	mixed secreting pituitary adenoma	http://purl.obolibrary.org/obo/MONDO_0017822	http://identifiers.org/snomedct/254961003|UMLS:C0346305|Orphanet:314759	disease_grouping|ordo_group_of_disorders
MONDO:0017823	biolink:Disease	somatomammotropinoma		Orphanet:314769|ICD10CM:D35.2|UMLS:CN203793	mondo.json	Growth hormone and prolactin cosecreting pituitary adenoma|Somatoprolactinoma|GH and PRL cosecreting pituitary adenoma|Somatolactotropinoma	http://purl.obolibrary.org/obo/MONDO_0017823	UMLS:CN203793|Orphanet:314769	ordo_disease
UBERON:0002478	biolink:AnatomicalEntity	orbitosphenoid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002478		
SO:0001637	biolink:SequenceFeature	rRNA_gene	A gene that encodes for ribosomal RNA.		mondo.json	rDNA|rRNA gene	http://purl.obolibrary.org/obo/SO_0001637		
HGNC:9236	biolink:NamedThing	PPARG			mondo.json		http://identifiers.org/hgnc/9236		
MONDO:0005849	biolink:Disease	milk allergic reaction	Allergic reaction to milk (usually cow's milk) or milk products. milk hypersensitivity should be differentiated from lactose intolerance, an intolerance to milk as a result of congenital deficiency of lactase.	MESH:D016269|UMLS:C0079840|DOID:4376|EFO:0007369	mondo.json	milk allergy|milk allergic reaction	http://purl.obolibrary.org/obo/MONDO_0005849	http://identifiers.org/mesh/D016269|DOID:4376|UMLS:C0079840	
UBERON:0002473	biolink:AnatomicalEntity	intercerebral commissure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002473		
CL:0002153	biolink:Cell	corneocyte	The dead keratin-filled squamous cell of the stratum corneum. This cell type lacks a nucleus.	BTO:0001943|FMA:68650	mondo.json		http://purl.obolibrary.org/obo/CL_0002153		
MONDO:0005824	biolink:Disease	Legionnaires' disease	A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations.	EFO:0007343|SCTID:195889001|MESH:D007877|NCIT:C128339|ICD9:482.84|DOID:10457	mondo.json	legionnaire's disease|Legionella|Legionella pneumonia|infection by Legionella pneumophilia	http://purl.obolibrary.org/obo/MONDO_0005824	http://identifiers.org/snomedct/195889001|DOID:10457|NCIT:C128339|http://identifiers.org/mesh/D007877	
GO:1900418	biolink:NamedThing	obsolete positive regulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter	OBSOLETE. A positive regulation of transcription from RNA polymerase II promoter that results in positive regulation of purine nucleotide biosynthetic process.		mondo.json	upregulation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|upregulation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|upregulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|upregulation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|positive regulation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|upregulation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|positive regulation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_1900418		
MONDO:0005823	biolink:Disease	legionellosis	Any disease caused by Legionella bacteria.	EFO:0007342|UMLS:C0023240|MedDRA:10061266|UMLS:CN205282|SCTID:26726000|Orphanet:549|NCIT:C128334|Orphanet:600832|MESH:D007876|DOID:10458|MedDRA:10035718	mondo.json	Legionella infection|Legionnaires disease	http://purl.obolibrary.org/obo/MONDO_0005823	http://identifiers.org/snomedct/26726000|DOID:10458|Orphanet:600832|NCIT:C128334|Orphanet:549|UMLS:C0023240|http://identifiers.org/mesh/D007876|UMLS:CN205282	ordo_disease
MONDO:0005826	biolink:Disease	lipid pneumonia	Pneumonia due to aspiration or inhalation of various oily or fatty substances.	EFO:0007345|DOID:3241|SCTID:707449006|UMLS:C0032298|GARD:0006394|MESH:D011017	mondo.json	pneumonia lipid|lipoid pneumonitis|exogenous lipoid pneumonia|cholesterol pneumonia|lipoidpneumonitis	http://purl.obolibrary.org/obo/MONDO_0005826	UMLS:C0032298|http://identifiers.org/snomedct/707449006|http://identifiers.org/mesh/D011017|DOID:3241	
MONDO:0005825	biolink:Disease	leptospirosis	A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure.	EFO:0007344|ICD9:100.89|ICD9:100.0|ICD9:100|GARD:0007881|SCTID:77377001|Orphanet:509|MedDRA:10024238|MESH:D007922|NCIT:C84825|ICD9:100.9|UMLS:C0023364|DOID:2297|ICD10CM:A27	mondo.json	nanukayami fever|rat catcher's yellows|harvest fever|seven day fever|Icterohemorrhagic fever|leptospirosis|cane cutter's fever|leptospirosis icterohaemorrhagica|swamp fever|swineherd's disease|Queensland fever|Leptospira disease or disorder|mud fever|fort Bragg fever|infection due to Leptospira|spirochetal jaundice|hemorrhagic jaundice|canicola fever|japanese autumnal fever|Weil disease|Stuttgart disease|cane-cutter fever|Leptospira infectious disease|rice-field worker's disease|Leptospira caused disease or disorder|rice-field fever	http://purl.obolibrary.org/obo/MONDO_0005825	NCIT:C84825|http://identifiers.org/snomedct/77377001|http://purl.bioontology.org/ontology/ICD10CM/A27|Orphanet:509|UMLS:C0023364|http://identifiers.org/mesh/D007922|DOID:2297	gard_rare|ordo_disease
MONDO:0005820	biolink:Disease	Lassa fever	A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss.	ICD10CM:A96.2|SCTID:19065005|NCIT:C128418|MESH:D007835|DOID:9537|Orphanet:99824|ICD9:078.89|EFO:0007338|MedDRA:10023927|UMLS:C0023092	mondo.json	Lassa hemorrhagic fever|LF	http://purl.obolibrary.org/obo/MONDO_0005820	http://purl.bioontology.org/ontology/ICD10CM/A96.2|Orphanet:99824|NCIT:C128418|http://identifiers.org/snomedct/19065005|UMLS:C0023092|http://identifiers.org/mesh/D007835|DOID:9537	ordo_disease
UBERON:0002459	biolink:AnatomicalEntity	inferior palpebral vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002459		
MONDO:0005822	biolink:Disease	latent syphilis	A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum without evidence of accompanying signs or symptoms related to the disease.	EFO:0007340|SCTID:444150000|DOID:9531|MESH:D013592|ICD9:097.1|UMLS:C0039133|NCIT:C35056	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005822	DOID:9531|UMLS:C0039133|NCIT:C35056|http://identifiers.org/mesh/D013592|http://identifiers.org/snomedct/444150000	
MONDO:0030822	biolink:Disease	renal hypodysplasia/aplasia 4		OMIM:619887	mondo.json	RHDA4|renal hypodysplasia/aplasia 4	http://purl.obolibrary.org/obo/MONDO_0030822	https://omim.org/entry/619887	
MONDO:0005821	biolink:Disease	late congenital syphilis		ICD9:090.7|DOID:10039|ICD9:090.4|EFO:0007339|SCTID:82323002|ICD9:090.40|ICD9:090.5	mondo.json	juvenile syphilis|late congenital syphilis, symptomatic (2 years or more)|late congenital syphilis (2 years or more)|juvenile neurosyphilis|late congenital syphilis	http://purl.obolibrary.org/obo/MONDO_0005821	http://identifiers.org/snomedct/82323002|DOID:10039	
GO:1900413	biolink:NamedThing	obsolete positive regulation of phospholipid biosynthetic process by positive regulation of transcription from RNA polymerase II promoter	OBSOLETE. A positive regulation of transcription from RNA polymerase II promoter that results in positive regulation of phospholipid biosynthetic process.		mondo.json	positive regulation of phospholipid synthesis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of phospholipid biosynthesis by positive regulation of transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_1900413		
MONDO:0017806	biolink:Disease	15q overgrowth syndrome	15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.	Orphanet:314585|UMLS:CN203769|DECIPHER:81	mondo.json	15q26 overgrowth syndrome	http://purl.obolibrary.org/obo/MONDO_0017806	Orphanet:314585|UMLS:CN203769	ordo_malformation_syndrome
MONDO:0017807	biolink:Disease	growing teratoma syndrome	A condition characterized by the presence of a growing mature teratoma in a patient during or after chemotherapy for a non-seminomatous germ cell tumor, with normal serum markers for human chorionic gonadotropin and alpha fetoprotein. Complete surgical resection is the preferred treatment.	NCIT:C118370|UMLS:C3891714|Orphanet:314613|UMLS:CN203773	mondo.json	GTS	http://purl.obolibrary.org/obo/MONDO_0017807	Orphanet:314613|UMLS:CN203773|NCIT:C118370|UMLS:C3891714	ordo_clinical_situation
MONDO:0030827	biolink:Disease	macrothrombocytopenia, isolated, 2, autosomal dominant		OMIM:619840	mondo.json	MACTHC2|macrothrombocytopenia, isolated, 2, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0030827	https://omim.org/entry/619840	
MONDO:0017808	biolink:Disease	duplication of the pituitary gland		Orphanet:314621|UMLS:CN203774	mondo.json	hypophyseal duplication|Duplication of the pituitary gland-plus syndrome|DPG-plus syndrome	http://purl.obolibrary.org/obo/MONDO_0017808	Orphanet:314621|UMLS:CN203774	ordo_morphological_anomaly
MONDO:0017809	biolink:Disease	parkinsonism due to ATP13A2 deficiency		Orphanet:314632|UMLS:CN203776	mondo.json	CLN12 disease	http://purl.obolibrary.org/obo/MONDO_0017809	Orphanet:314632|UMLS:CN203776	ordo_disease
FOODON:03411998	biolink:NamedThing	decapod	The Decapoda or decapods (literally "ten-footed") are an order of crustaceans within the class Malacostraca, including many familiar groups, such as crayfish, crabs, lobsters, prawns, and shrimp. Most decapods are scavengers. [https://en.wikipedia.org/wiki/Decapoda]		mondo.json		http://purl.obolibrary.org/obo/FOODON_03411998		
MONDO:0017813	biolink:Disease	van Maldergem syndrome	Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.	Orphanet:314679|OMIMPS:601390|DOID:0060238|UMLS:CN203783|GARD:0005456	mondo.json	Van Maldergem Wetzburger Verloes syndrome|cerebro-facio-articular syndrome|Van Maldergem syndrome|cerebro-facio-articular syndrome of Van Maldergem	http://purl.obolibrary.org/obo/MONDO_0017813	UMLS:CN203783|Orphanet:314679|DOID:0060238|https://omim.org/phenotypicSeries/PS601390	ordo_malformation_syndrome
CL:0002122	biolink:Cell	B220-positive CD38-positive IgG-negative class switched memory B cell	A B220-positive CD38-positive IgG-negative memory B cell is a CD38-positive IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype B220-positive, CD38-positive, and IgG-negative.		mondo.json		http://purl.obolibrary.org/obo/CL_0002122		
MONDO:0017814	biolink:Disease	primary bone lymphoma	A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease.	Orphanet:314684|UMLS:C1332582|DOID:6759|SCTID:766935007|NCIT:C6620	mondo.json	bone tissue lymphoma|lymphoma of bone|primary lymphoma of bone|lymphoma of the bone|primary lymphoma of the bone|lymphoma of bone tissue|bone lymphoma	http://purl.obolibrary.org/obo/MONDO_0017814	http://identifiers.org/snomedct/766935007|DOID:6759|UMLS:C1332582|Orphanet:314684|NCIT:C6620	ordo_disease
CL:0002121	biolink:Cell	CD24-negative CD38-negative IgG-negative class switched memory B cell	A CD24-negative CD38-negative IgG-negative memory B cell is a CD38-negative IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD24-negative, CD38-negative, and IgG-negative.		mondo.json		http://purl.obolibrary.org/obo/CL_0002121		
MONDO:0017815	biolink:Disease	acquired porencephaly	An instance of porencephaly that is acquired during the lifetime of the individual.	UMLS:C0151860|SCTID:38837006|Orphanet:314697	mondo.json	acquired porencephaly	http://purl.obolibrary.org/obo/MONDO_0017815	http://identifiers.org/snomedct/38837006|UMLS:C0151860|Orphanet:314697	ordo_etiological_subtype
UBERON:0002461	biolink:AnatomicalEntity	anterior abdominal wall muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002461		
CL:0002123	biolink:Cell	B220-low CD38-positive IgG-negative class switched memory B cell	A B220-low CD38-positive IgG-negative memory B cell is a CD38-positive IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype B220-low, CD38-positive, and IgG-positive.		mondo.json		http://purl.obolibrary.org/obo/CL_0002123		
MONDO:0017816	biolink:Disease	primary systemic amyloidosis	Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement.	UMLS:C0268380|OMIM:254500|SCTID:89449005|Orphanet:314701|NCIT:C8299|UMLS:C0281479	mondo.json	systemic AL amyloidosis|systemic Immunoglobulin Light chain amyloidosis|systemic amyloidosis	http://purl.obolibrary.org/obo/MONDO_0017816	http://identifiers.org/snomedct/89449005|UMLS:C0268380|NCIT:C8299|UMLS:C0281479|Orphanet:314701	ordo_clinical_subtype
GO:0061983	biolink:NamedThing	meiosis II cell cycle process	A process that coontributes to the second meiotic division. The second meiotic division separates chromatids resulting in a haploid number of chromosomes.		mondo.json	second meiotic division	http://purl.obolibrary.org/obo/GO_0061983		
UBERON:0002460	biolink:AnatomicalEntity	vesical vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002460		
MONDO:0017810	biolink:Disease	variant ABeta2M amyloidosis	A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.	UMLS:CN203779|SCTID:722292000|Orphanet:314652|UMLS:C4302669	mondo.json	autosomal dominant beta2-microglobulinic amyloidosis	http://purl.obolibrary.org/obo/MONDO_0017810	http://identifiers.org/snomedct/722292000|UMLS:CN203779|Orphanet:314652|UMLS:C4302669	ordo_disease
MONDO:0017811	biolink:Disease	severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion		Orphanet:314655|SCTID:768555009|UMLS:CN203780	mondo.json	monosomy 5q31.3|5q31.3 microdeletion syndrome|Del(5)(q31.3)	http://purl.obolibrary.org/obo/MONDO_0017811	UMLS:CN203780|http://identifiers.org/snomedct/768555009|Orphanet:314655	ordo_clinical_subtype
MONDO:0017812	biolink:Disease	segmental progressive overgrowth syndrome with fibroadipose hyperplasia	A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal patten. Congenital overgrowth is typically associated.	UMLS:CN203781|Orphanet:314662	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017812	UMLS:CN203781|Orphanet:314662	ordo_disease
GO:0071305	biolink:NamedThing	cellular response to vitamin D	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin D stimulus.		mondo.json	cellular response to ergocalciferol|cellular response to calciferol|cellular response to cholecalciferol	http://purl.obolibrary.org/obo/GO_0071305		
UBERON:0002466	biolink:AnatomicalEntity	intestine secretion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002466		
UBERON:0002469	biolink:AnatomicalEntity	esophagus mucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002469		
MONDO:0005817	biolink:Disease	Kluver-Bucy syndrome	Kluver Bucy syndrome is a rare behavioral impairment characterized byinappropriate sexual behaviors and mouthing of objects. Other signs and symptoms, includea diminished ability to visually recognize objects,loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications.	EFO:0007335|GARD:0006840|SCTID:10651001|NCIT:C84802|Orphanet:157823|DOID:2510|MESH:D020232|MedDRA:10066431	mondo.json	post-encephalitic Kluver Bucy syndrome (type)|KLüver-Bucy syndrome|memory loss, extreme sexual behavior, placidity, and visual distractibility|Klver-Bucy syndrome|bilateral temporal lobe disorder|KLuever-Bucy syndrome|temporal lobectomy behavior syndrome|post-traumatic Kluver Bucy syndrome (type)|syndrome, Kluver-Bucy|Kluver Bucy syndrome	http://purl.obolibrary.org/obo/MONDO_0005817	DOID:2510|Orphanet:157823|http://identifiers.org/mesh/D020232|NCIT:C84802|http://identifiers.org/snomedct/10651001	gard_rare|ordo_clinical_syndrome
NCBITaxon:455381	biolink:OrganismalEntity	Capillariidae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_455381		
MONDO:0005816	biolink:Disease	obsolete Japanese encephalitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005816		
MONDO:0005819	biolink:Disease	laryngeal tuberculosis	Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare.	EFO:0007337|ICD9:012.32|ICD9:012.31|ICD9:012.3|MESH:D014387|ICD9:012.30|SCTID:70341005|NCIT:C26895|DOID:1583|UMLS:C0041315	mondo.json	larynx tuberculosis|tuberculous laryngitis	http://purl.obolibrary.org/obo/MONDO_0005819	http://identifiers.org/snomedct/70341005|DOID:1583|NCIT:C26895|http://identifiers.org/mesh/D014387|UMLS:C0041315	
CL:0002120	biolink:Cell	CD24-positive CD38-negative IgG-negative class switched memory B cell	An CD24-positive CD38-negative IgG-negative memory B cell is a CD38-negative IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD24-positive, CD38-negative, and IgG-negative.		mondo.json		http://purl.obolibrary.org/obo/CL_0002120		
UBERON:0002465	biolink:AnatomicalEntity	lymphoid system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002465		
MONDO:0005818	biolink:Disease	obsolete Langerhans cell sarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005818		
MONDO:0005835	biolink:Disease	Lynch syndrome	An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present.	OMIM:614337|OMIM:120435|MedDRA:10051981|SCTID:716318002|OMIM:613244|OMIM:614331|OMIM:614385|NCIT:C8494|OMIM:614350|DOID:3883|Orphanet:144|OMIM:609310|UMLS:C0009405|EFO:0007354	mondo.json	hereditary nonpolyposis colorectal neoplasm|Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)|hereditary non-polyposis colon cancer type 1|Hereditary colorectal endometrial cancer syndrome|hereditary nonpolyposis colorectal cancer|HNPCC - hereditary nonpolyposis colon cancer|hereditary defective mismatch repair syndrome|familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)|Lynch syndrome|Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)	http://purl.obolibrary.org/obo/MONDO_0005835	Orphanet:144|http://identifiers.org/snomedct/716318002|NCIT:C8494|DOID:3883	clingen|ordo_disease
MONDO:0030835	biolink:Disease	developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy		OMIM:619090	mondo.json	DIGFAN	http://purl.obolibrary.org/obo/MONDO_0030835	https://omim.org/entry/619090	
MONDO:0005834	biolink:Disease	lymphogranuloma venereum	Infection with the organism Mycobacterium.	EFO:0007353|ICD9:099.1|SCTID:186946009|UMLS:C0024286|DOID:13819|NCIT:C26822|MESH:D008219|GARD:0009545	mondo.json	lymphogranuloma inguinale|Durand-Nicolas-Favre disease|strumous bubo|lymph granuloma inguinale|LGV|Poradenitis inguinale|climatic or tropical bubo	http://purl.obolibrary.org/obo/MONDO_0005834	NCIT:C26822|http://identifiers.org/snomedct/186946009|http://identifiers.org/mesh/D008219|UMLS:C0024286|DOID:13819	gard_rare
MONDO:0030837	biolink:Disease	neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities	An autosomal dominant neurodevelopmental disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. The clinical features suggest involvement of both the central and peripheral nervous systems.	OMIM:619092	mondo.json	NEDMILEG, AD|NEDMILEG|neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0030837	https://omim.org/entry/619092	
MONDO:0005837	biolink:Disease	mandibular cancer	A malignant neoplasm involving the mandible	DOID:2338|ICD9:170.1|SCTID:448668007|MESH:D008339|NCIT:C35178|EFO:0007356	mondo.json	neoplasm of mandible|mandibular neoplasm|malignant neoplasm of mandible|malignant neoplasm of inferior maxilla|malignant mandible neoplasm|malignant neoplasm of lower jaw bone|cancer of mandible|mandible cancer	http://purl.obolibrary.org/obo/MONDO_0005837	NCIT:C35178|http://identifiers.org/snomedct/448668007|http://identifiers.org/mesh/D008339|DOID:2338	
MONDO:0005836	biolink:Disease	male reproductive organ cancer	A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma.	NCIT:C8561|ICD9:187.8|DOID:3856|MESH:D005834|SCTID:363515000|ICD9:187.9|EFO:0007355	mondo.json	malignant neoplasm of male reproductive organ|malignant tumor of male genital organ|malignant tumor of Male reproductive system|malignant Male reproductive system neoplasm|malignant tumor of the Male reproductive system|malignant neoplasm of male genital organs|male genital cancer|male reproductive organ cancer|male reproductive system neoplasm|malignant neoplasm of male genital organ, site unspecified|malignant neoplasm of Male reproductive system|male genital neoplasm|neoplasm of male genital organ|malignant neoplasm of the Male reproductive system|malignant Male reproductive system tumor|malignant male reproductive organ neoplasm|cancer of male reproductive organ|tumor of male reproductive system|malignant neoplasm of male genital organ|malignant tumor of male reproductive system|malignant neoplasm of male genital organ or tract	http://purl.obolibrary.org/obo/MONDO_0005836	http://identifiers.org/mesh/D005834|http://identifiers.org/snomedct/363515000|NCIT:C8561|DOID:3856	
GO:1900426	biolink:NamedThing	positive regulation of defense response to bacterium	Any process that activates or increases the frequency, rate or extent of defense response to bacterium.		mondo.json	up-regulation of defence response to bacterium|up-regulation of antibacterial peptide activity|up-regulation of defense response to bacterium|upregulation of defence response to bacteria|upregulation of defense response to bacteria|positive regulation of defense response to bacterium, incompatible interaction|activation of resistance response to pathogenic bacterium|up regulation of defense response to bacterium|up regulation of defence response to bacterium|positive regulation of defence response to bacteria|positive regulation of defense response to bacteria|activation of defense response to bacterium|positive regulation of defence response to bacterium|up regulation of defence response to bacteria|up regulation of defense response to bacteria|activation of antibacterial peptide activity|upregulation of antibacterial peptide activity|upregulation of defense response to bacterium|up-regulation of defence response to bacteria|up-regulation of defense response to bacteria|upregulation of defence response to bacterium|activation of defence response to bacterium|positive regulation of antibacterial peptide activity|activation of resistance response to pathogenic bacteria|up regulation of antibacterial peptide activity|activation of defense response to bacteria|activation of defence response to bacteria	http://purl.obolibrary.org/obo/GO_1900426		
MONDO:0030831	biolink:Disease	gastrointestinal defect and immunodeficiency syndrome		OMIMPS:243150	mondo.json		http://purl.obolibrary.org/obo/MONDO_0030831	https://omim.org/phenotypicSeries/PS243150	
MONDO:0005831	biolink:Disease	lymph node tuberculosis	Tuberculosis of the lymph node.	EFO:0007350|SCTID:10893003|DOID:4889|NCIT:C26896|MESH:D014388	mondo.json	lymph node tuberculosis|tuberculous lymphadenopathy|king's evil|scrofula|tuberculous adenitis	http://purl.obolibrary.org/obo/MONDO_0005831	http://identifiers.org/snomedct/10893003|http://identifiers.org/mesh/D014388|DOID:4889|NCIT:C26896	
GO:1900425	biolink:NamedThing	negative regulation of defense response to bacterium	Any process that stops, prevents or reduces the frequency, rate or extent of defense response to bacterium.		mondo.json	downregulation of defence response to bacterium|downregulation of defense response to bacterium|downregulation of antibacterial peptide activity|down-regulation of defense response to bacteria|down-regulation of defence response to bacteria|inhibition of defence response to pathogenic bacteria, incompatible interaction|negative regulation of defense response to bacteria|negative regulation of defence response to bacteria|inhibition of defense response to bacterium|inhibition of defense response to bacterium, incompatible interaction|inhibition of defence response to pathogenic bacterium, incompatible interaction|inhibition of resistance response to pathogenic bacteria|inhibition of response to pathogenic bacterium (incompatible interaction)|inhibition of response to pathogenic bacteria (incompatible interaction)|inhibition of defense response to bacteria|inhibition of defence response to bacteria|down regulation of antibacterial peptide activity|negative regulation of defense response to bacterium, incompatible interaction|inhibition of defence response to bacterium|down-regulation of antibacterial peptide activity|negative regulation of antibacterial peptide activity|down-regulation of defence response to bacterium|downregulation of defence response to bacteria|negative regulation of defence response to bacterium|downregulation of defense response to bacteria|down-regulation of defense response to bacterium|inhibition of antibacterial peptide activity|down regulation of defense response to bacterium|down regulation of defence response to bacterium|inhibition of resistance response to pathogenic bacterium|down regulation of defence response to bacteria|down regulation of defense response to bacteria	http://purl.obolibrary.org/obo/GO_1900425		
HGNC:9251	biolink:NamedThing	CTSA			mondo.json		http://identifiers.org/hgnc/9251		
MONDO:0005830	biolink:Disease	lumpy skin disease	A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin.	MESH:D008166|EFO:0007349|UMLS:C0024106	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005830	http://identifiers.org/mesh/D008166|UMLS:C0024106	
MONDO:0005833	biolink:Disease	lymphatic system disorder	A disease involving the lymphatic part of lymphoid system.	EFO:0007352|MESH:D008206|SCTID:362971004|DOID:75|NCIT:C50764|UMLS:C0024228	mondo.json	lymphatic disease|swollen gland|lymphatic part of lymphoid system disease|disease of lympoid system|disorder of lymph node and lymphatics|disease or disorder of lymphatic part of lymphoid system|disorder of lymphatic system|lymphangiopathy|glands, swollen|lymphadenopathy|disorder of lymphoid system|disease of lymphatic part of lymphoid system|swollen glands|lymphatic part of lymphoid system disease or disorder|lympoid system disease|adenopathy|disorder of lymphatic part of lymphoid system|lymphatic disorder	http://purl.obolibrary.org/obo/MONDO_0005833	DOID:75|http://identifiers.org/snomedct/362971004|http://identifiers.org/mesh/D008206|UMLS:C0024228|NCIT:C50764	
MONDO:0005832	biolink:Disease	lymphangitis	Inflammation of the lymphatic vessels.	EFO:0007351|ICD9:457.2|UMLS:C0024225|ICD10CM:I89.1|NCIT:C34790|SCTID:1415005|MESH:D008205|DOID:9317	mondo.json	lymphatic vessel inflammation|inflammation of lymphatic vessel	http://purl.obolibrary.org/obo/MONDO_0005832	http://identifiers.org/mesh/D008205|NCIT:C34790|UMLS:C0024225|http://purl.bioontology.org/ontology/ICD10CM/I89.1|http://identifiers.org/snomedct/1415005|DOID:9317	
GO:1900424	biolink:NamedThing	regulation of defense response to bacterium	Any process that modulates the frequency, rate or extent of defense response to bacterium.		mondo.json	regulation of antibacterial peptide activity|regulation of resistance response to pathogenic bacterium|regulation of defence response to pathogenic bacterium, incompatible interaction|regulation of resistance response to pathogenic bacteria|regulation of defence response to pathogenic bacteria, incompatible interaction|regulation of defense response to bacterium, incompatible interaction|regulation of defence response to bacterium, incompatible interaction|regulation of defence response to bacteria|regulation of defense response to bacteria|regulation of defence response to bacterium	http://purl.obolibrary.org/obo/GO_1900424		
CHEBI:37826	biolink:ChemicalSubstance	sulfuric acid derivative			mondo.json	sulfuric acid derivative|sulfuric acid derivatives	http://purl.obolibrary.org/obo/CHEBI_37826		
MONDO:0030839	biolink:Disease	thyroid hormone metabolism, abnormal, 2		OMIM:619855	mondo.json	thyroid hormone metabolism, abnormal, 2|THMA2	http://purl.obolibrary.org/obo/MONDO_0030839	https://omim.org/entry/619855	
MONDO:0017802	biolink:Disease	ovarian fibrothecoma	A rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad).	SCTID:765190005|UMLS:CN203762|Orphanet:314478	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017802	UMLS:CN203762|http://identifiers.org/snomedct/765190005|Orphanet:314478	ordo_disease
CL:0002132	biolink:Cell	stromal cell of ovary	A stomal cell of the ovary	FMA:72299	mondo.json	ovarian stromal cell	http://purl.obolibrary.org/obo/CL_0002132		
MONDO:0017803	biolink:Disease	primary progressive apraxia of speech		UMLS:CN203766|Orphanet:314566	mondo.json	PPAOS	http://purl.obolibrary.org/obo/MONDO_0017803	UMLS:CN203766|Orphanet:314566	ordo_disease
MONDO:0017804	biolink:Disease	autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome	Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.	Orphanet:314572|UMLS:CN203767	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017804	UMLS:CN203767|Orphanet:314572	ordo_disease
CL:0002134	biolink:Cell	stromal cell of ovarian medulla	A stromal cell of the ovarian medulla.	FMA:256171	mondo.json		http://purl.obolibrary.org/obo/CL_0002134		
MONDO:0017805	biolink:Disease	intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome		Orphanet:314575|UMLS:CN203768	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017805	UMLS:CN203768|Orphanet:314575	ordo_malformation_syndrome
MONDO:0017800	biolink:Disease	pseudo-Meigs syndrome		UMLS:CN203759|Orphanet:314459	mondo.json	pseudo-Demons-Meigs syndrome	http://purl.obolibrary.org/obo/MONDO_0017800	UMLS:CN203759|Orphanet:314459	ordo_clinical_syndrome
CL:0002139	biolink:Cell	endothelial cell of vascular tree	An endothelial cell of the vascular tree, which includes blood vessels and lymphatic vessels.	BTO:0001854|FMA:67755|CALOHA:TS-1106	mondo.json	vascular endothelial cell|cubodial endothelial cell of vascular tree	http://purl.obolibrary.org/obo/CL_0002139		
CL:0002138	biolink:Cell	endothelial cell of lymphatic vessel	A endothelial cell of a lymphatic vessel. The border of the oak leaf-shaped endothelial cell of initial lymphatics are joined by specialized buttons. The discontinuous feature of buttons distinguishes them from zippers in collecting lymphatics, but both types of junctions are composed of proteins typical of adherens junctions and tight junctions found in the endothelium of blood vessels. Buttons seal the sides of flaps of the oak leaf-shaped endothelial cell, leaving open the tips of flaps as routes for fluid entry without disassembly and reformation of intercellular junctions.	BTO:0004167|FMA:68458	mondo.json	LEC|lymphatic endothelial cell	http://purl.obolibrary.org/obo/CL_0002138		
MONDO:0017801	biolink:Disease	atypical Meigs syndrome		UMLS:CN203760|Orphanet:314466	mondo.json	atypical Demons-Meigs syndrome|incomplete Meigs syndrome	http://purl.obolibrary.org/obo/MONDO_0017801	UMLS:CN203760|Orphanet:314466	ordo_clinical_syndrome
UBERON:0002456	biolink:AnatomicalEntity	internal thoracic artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002456		
HGNC:9255	biolink:NamedThing	PPIB			mondo.json		http://identifiers.org/hgnc/9255		
MONDO:0030840	biolink:Disease	mismatch repair cancer syndrome 2		OMIM:619096	mondo.json	MMRCS2|mismatch repair cancer syndrome 2	http://purl.obolibrary.org/obo/MONDO_0030840	https://omim.org/entry/619096	
UBERON:0002458	biolink:AnatomicalEntity	spinal artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002458		
UBERON:0002457	biolink:AnatomicalEntity	intersomitic artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002457		
MONDO:0005828	biolink:Disease	listeriosis	A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy.	DOID:11573|NCIT:C82994|UMLS:C0023860|GARD:0006915|ICD9:027.0|MESH:D008088|ICD10CM:A32|MedDRA:10024641|EFO:0007347|Orphanet:533	mondo.json	Listeria infection|Listeria monocytogenes infectious disease|Listeria monocytogenes caused disease or disorder|Listeria monocytogenes disease or disorder|Listeria monocytogenes infection|infection by Listeria monocytogenes	http://purl.obolibrary.org/obo/MONDO_0005828	UMLS:C0023860|DOID:11573|NCIT:C82994|http://identifiers.org/mesh/D008088|http://purl.bioontology.org/ontology/ICD10CM/A32|Orphanet:533	ordo_disease
MONDO:0005827	biolink:Disease	lipoatrophic diabetes	A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism.	SCTID:71325002|SCTID:127012008|DOID:11712|NCIT:C34537|MESH:D003923|EFO:0007346	mondo.json	lipoatrophic diabetes mellitus|lipoatrophic diabetes|diabete, lipoatrophic|diabetes, lipoatrophic|lipoatrophic diabete	http://purl.obolibrary.org/obo/MONDO_0005827	DOID:11712|http://identifiers.org/mesh/D003923|NCIT:C34537|http://identifiers.org/snomedct/127012008	
UBERON:0002451	biolink:AnatomicalEntity	endometrial gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002451		
MONDO:0005829	biolink:Disease	louping ill	An acute tick-borne arbovirus infection causing meningoencephalomyelitis of sheep.	MESH:D008146|DOID:10250|EFO:0007348|ICD9:063.1|UMLS:C0024025	mondo.json	Louping ill	http://purl.obolibrary.org/obo/MONDO_0005829	DOID:10250|http://identifiers.org/mesh/D008146|UMLS:C0024025	
OBO:chebi#has_functional_parent	biolink:NamedThing	has functional parent			mondo.json		http://purl.obolibrary.org/obo/chebi#has_functional_parent		
UBERON:0002453	biolink:AnatomicalEntity	ethmoid sinus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002453		
MONDO:0003227	biolink:Disease	prosopagnosia	Impaired ability to recognize other human faces in the absence of a vision disorder. It may be a congenital disorder or the result of brain injury.	MESH:D020238|DOID:4970|HP:0010528|NCIT:C85031	mondo.json	prosopagnosia|prosopagnosia (disease)|face blindness	http://purl.obolibrary.org/obo/MONDO_0003227	DOID:4970|NCIT:C85031|http://identifiers.org/mesh/D020238	
MONDO:0005889	biolink:Disease	obsolete orthomyxoviridae infectious disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005889		
MONDO:0003228	biolink:Disease	obsolete myelodysplastic/myeloproliferative neoplasm			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003228		
MONDO:0003229	biolink:Disease	obsolete lymphedema			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003229		
MONDO:0003223	biolink:Disease	meninges hemangiopericytoma	A solitary fibrous tumor/hemangiopericytoma that arises from the meninges.	SCTID:277522009|NCIT:C4660|ONCOTREE:HPCCNS|UMLS:C0349622|DOID:4957	mondo.json	hemangiopericytoma of the meninges|hemangiopericytoma of the central nervous system|meningeal hemangiopericytoma|meningeal cluster spindle cell tumor|meningeal solitary fibrous tumor/hemangiopericytoma|meningeal cluster hemangiopericytoma|meninges hemangiopericytoma|hemangiopericytoma of meninges	http://purl.obolibrary.org/obo/MONDO_0003223	DOID:4957|UMLS:C0349622|http://identifiers.org/snomedct/277522009|NCIT:C4660	
MONDO:0005886	biolink:Disease	oral candidiasis	Infection of the mucosal lining of the mouth with the fungus Candida albicans.	MESH:D002180|ICD9:112.0|SCTID:79740000|DOID:14262|NCIT:C28137|UMLS:C0006849|EFO:0007406	mondo.json	thrush|thrush, oral|candidiasis of mouth|oral moniliasis|mouth candidiasis	http://purl.obolibrary.org/obo/MONDO_0005886	NCIT:C28137|UMLS:C0006849|http://identifiers.org/snomedct/79740000|http://identifiers.org/mesh/D002180|DOID:14262	
MONDO:0005885	biolink:Disease	optic neuritis	Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.The conditionmay cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated.	NCIT:C84950|MESH:D009902|ICD9:377.3|ICD9:377.30|GARD:0007320|DOID:1210|ICD9:377.39|ICD10CM:H46|SCTID:66760008|EFO:0007405	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005885	http://purl.bioontology.org/ontology/ICD10CM/H46|DOID:1210|http://identifiers.org/snomedct/66760008|NCIT:C84950|http://identifiers.org/mesh/D009902	gard_rare
MONDO:0003224	biolink:Disease	obsolete spindle cell hemangioma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003224		
MONDO:0003225	biolink:Disease	bone marrow disorder	Any disease of the bone marrow.	UMLS:C0005956|DOID:4961|SCTID:127035006|MESH:D001855|ICD9:289.9|NCIT:C34433	mondo.json	disease of bone marrow|bone marrow disease or disorder|bone marrow disorder|disorder of bone marrow|disease or disorder of bone marrow|bone marrow disease	http://purl.obolibrary.org/obo/MONDO_0003225	http://identifiers.org/mesh/D001855|NCIT:C34433|DOID:4961|UMLS:C0005956|http://identifiers.org/snomedct/127035006	
MONDO:0005888	biolink:Disease	ornithosis	Disease caused by the Chlamydophila psittaci bacteria, usually transmitted from birds to humans.	NCIT:C34873|MESH:D009956|SCTID:75116005|ICD9:073.9|EFO:0007410|ICD9:073|UMLS:C0029291|DOID:11262|GARD:0007492	mondo.json	psittacosis	http://purl.obolibrary.org/obo/MONDO_0005888	http://identifiers.org/mesh/D009956|NCIT:C34873|http://identifiers.org/snomedct/75116005|DOID:11262|UMLS:C0029291	
MONDO:0005887	biolink:Disease	oral tuberculosis	Tuberculosis of the mouth, tongue, and salivary glands.	ICD9:017.90|UMLS:C0041323|MESH:D014393|SCTID:235067001|DOID:402|EFO:0007407|ICD9:528.9	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005887	UMLS:C0041323|http://identifiers.org/mesh/D014393|DOID:402|http://identifiers.org/snomedct/235067001	
MONDO:0003226	biolink:Disease	obsolete Nelson syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003226		
MONDO:0005882	biolink:Disease	obsolete onchocerciasis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005882		
CL:0002108	biolink:Cell	CD38-negative IgG memory B cell	A CD38-negative IgG memory B cell is a IgG-positive class switched memory B cell that has class switched and expresses IgG on the cell surface with the phenotype CD38-negative, IgD-negative, and IgG-positive.		mondo.json		http://purl.obolibrary.org/obo/CL_0002108		
MONDO:0005881	biolink:Disease	oligohydramnios	A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm.	DOID:12215|EFO:0007401|MESH:D016104|HP:0001562|SCTID:59566000|ICD9:658.00|ICD9:658.0	mondo.json	antepartum oligohydramnios|oligohydramnios|oligohydramnios (disease)|delivered oligohydramnios|oligohydramnios - delivered	http://purl.obolibrary.org/obo/MONDO_0005881	DOID:12215|http://identifiers.org/mesh/D016104|http://identifiers.org/snomedct/59566000	
MONDO:0003220	biolink:Disease	gallbladder carcinoma	A carcinoma that arises from epithelial cells of the gall bladder	UMLS:C0235782|EFO:1001956|DOID:4948|NCIT:C3844|SCTID:372140005	mondo.json	carcinoma gallbladder|gallbladder carcinoma|cancer of the gallbladder|Gall bladder carcinoma (adenocarcinoma)|carcinoma of the gallbladder|carcinoma of gallbladder|cancer of gallbladder|carcinoma of gall bladder|gall bladder carcinoma|Gall bladder carcinoma (adeno)|gallbladder cancer	http://purl.obolibrary.org/obo/MONDO_0003220	DOID:4948|UMLS:C0235782|NCIT:C3844|http://identifiers.org/snomedct/372140005	
CL:0002107	biolink:Cell	IgD-negative CD38-positive IgG memory B cell	An IgD-negative CD38-positive IgG memory B cell is a CD38-positive IgG-positive that has class switched and lacks expression of IgD on the cell surface with the phenotype IgD-negative, CD38-positive, and IgG-positive.		mondo.json		http://purl.obolibrary.org/obo/CL_0002107		
MONDO:0005884	biolink:Disease	opisthorchiasis	Infection with flukes of the genus Opisthorchis.	ICD9:121.0|GARD:0009746|ICD10CM:B66.0|MESH:D009889|SCTID:1059007|UMLS:C0029106|DOID:13768|EFO:0007404	mondo.json	infection by Opisthorchis|infection due to Opisthorchis (felineus)(viverrini)|infection due to cat liver fluke	http://purl.obolibrary.org/obo/MONDO_0005884	DOID:13768|http://purl.bioontology.org/ontology/ICD10CM/B66.0|UMLS:C0029106|http://identifiers.org/snomedct/1059007|http://identifiers.org/mesh/D009889	gard_rare
MONDO:0003221	biolink:Disease	obsolete sclerosing hemangioma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003221		
MONDO:0003222	biolink:Disease	central nervous system melanocytic neoplasm	A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion.	EFO:1000493|NCIT:C5504|UMLS:C1332887|SCTID:277523004|DOID:4955	mondo.json	melanocytic tumor of central nervous system|melanocytic tumor of the CNS|melanocytic tumor of the central nervous system|central nervous system primary melanocytic lesion|melanocytic tumor of CNS|CNS melanocytic neoplasm|primary melanocytic lesion of meninges|primary melanocytic lesions of the CNS|melanocytic neoplasm of the CNS|melanocytic neoplasm of CNS|CNS melanocytic tumor|central nervous system melanocytic tumor|melanocytic neoplasm of central nervous system|central nervous system melanocytic neoplasms|melanocytic neoplasm of the central nervous system|central nervous system melanocytic neoplasm	http://purl.obolibrary.org/obo/MONDO_0003222	DOID:4955|http://identifiers.org/snomedct/277523004|NCIT:C5504|UMLS:C1332887	
MONDO:0005883	biolink:Disease	ophthalmic herpes zoster	Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve.	EFO:0007403|UMLS:C0019364|GARD:0009721|ICD9:053.29|MESH:D006563|SCTID:87513003	mondo.json	Herpes zoster ophthalmicus (HZO)|herpes zoster ophthalmicus|HZO	http://purl.obolibrary.org/obo/MONDO_0005883	UMLS:C0019364|http://identifiers.org/mesh/D006563|http://identifiers.org/snomedct/87513003	
CL:0002109	biolink:Cell	B220-positive CD38-positive naive B cell	A B220-positive CD38-positive naive B cell is a CD38-positive naive B cell that has the phenotype B220-positive, CD38-positive, surface IgD-positive, surface IgM-positive, and CD27-negative, and that has not yet been activated by antigen in the periphery.		mondo.json	B220+CD38+ naive B cell|CD38+B220+ naive B cell|B220-positive CD38-positive naive B-cell|B220+CD38+ naive B-cell|CD38+B220+ naive B-cell|B220+CD38+ naive B lymphocyte|CD38+B220+ naive B lymphocyte|B220-positive CD38-positive naive B lymphocyte|CD38+B220+ naive B-lymphocyte|B220-positive CD38-positive naive B-lymphocyte|B220+CD38+ naive B-lymphocyte	http://purl.obolibrary.org/obo/CL_0002109		
HP:0031064	biolink:PhenotypicFeature	Impaired continence	Partial or total incontinence of bowel or bladder.		mondo.json		http://purl.obolibrary.org/obo/HP_0031064		
MONDO:0005880	biolink:Disease	oesophagostomiasis	Infection of the intestinal tract with worms of the genus oesophagostomum. This condition occurs mainly in animals other than humans.	EFO:0007400|ICD9:127.7|SCTID:22500005|UMLS:C0028887|MESH:D009814|DOID:3983	mondo.json	infection by Oesophagostomum|Oesophagostomum disease or disorder|Oesophagostomum infectious disease|Oesophagostomum caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005880	DOID:3983|http://identifiers.org/snomedct/22500005|UMLS:C0028887|http://identifiers.org/mesh/D009814	
GO:0046364	biolink:NamedThing	monosaccharide biosynthetic process	The chemical reactions and pathways resulting in the formation of monosaccharides, polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms.		mondo.json	monosaccharide formation|monosaccharide anabolism|monosaccharide biosynthesis|monosaccharide synthesis	http://purl.obolibrary.org/obo/GO_0046364		
MONDO:0017879	biolink:Disease	hantavirus pulmonary syndrome	An infection caused by Hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to life-threatening respiratory problems.	MESH:D018804|GARD:0000069|DOID:14472|SCTID:120639003|ICD10EXP:J17.1*|UMLS:C0243025|Orphanet:319247|NCIT:C84747|MedDRA:10019143|EFO:0007296|ICD10EXP:B33.4+|ICD9:480.8	mondo.json	four corners hantavirus|Hantavirus|HARDS|Hantavirus-associated respiratory distress syndrome	http://purl.obolibrary.org/obo/MONDO_0017879	DOID:14472|http://identifiers.org/mesh/D018804|UMLS:C0243025|Orphanet:319247|NCIT:C84747|http://identifiers.org/snomedct/120639003	ordo_disease|gard_rare
MONDO:0015216	biolink:Disease	syndromic diaphragmatic or abdominal wall malformation	A diaphragmatic or abdominal wall malformation that is part of a larger syndrome.	UMLS:CN226633|Orphanet:108979	mondo.json	syndromic diaphragmatic or abdominal wall malformation|syndrome associated with diaphragmatic or abdominal wall malformation	http://purl.obolibrary.org/obo/MONDO_0015216	Orphanet:108979|UMLS:CN226633	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0015215	biolink:Disease	non-syndromic diaphragmatic or abdominal wall malformation	A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome.	Orphanet:108977	mondo.json	nonsyndromic diaphragmatic or abdominal wall malformation|isolated diaphragmatic or abdominal wall malformation	http://purl.obolibrary.org/obo/MONDO_0015215	Orphanet:108977	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0015214	biolink:Disease	syndromic visceral malformation		UMLS:CN226631|Orphanet:108973	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015214	Orphanet:108973|UMLS:CN226631	ordo_group_of_disorders|disease_grouping
CL:0002102	biolink:Cell	CD38-negative naive B cell	A CD38-negative naive B cell is a mature B cell that has the phenotype CD38-negative, surface IgD-positive, surface IgM-positive, and CD27-negative, that has not yet been activated by antigen in the periphery.		mondo.json	CD38- naive B cell|CD38- naive B-cell|CD38- naive B lymphocyte|CD38- naive B-lymphocyte|CD38-negative naive B-cell|CD38-negative naive B lymphocyte|CD38-negative naive B-lymphocyte	http://purl.obolibrary.org/obo/CL_0002102		
CL:0002101	biolink:Cell	CD38-positive naive B cell	A CD38-positive naive B cell is a mature B cell that has the phenotype CD38-positive, surface IgD-positive, surface IgM-positive, and CD27-negative, and that has not yet been activated by antigen in the periphery.		mondo.json	CD38+ naive B cell|CD38-positive naive B-lymphocyte|CD38+ naive B-cell|CD38+ naive B lymphocyte|CD38+ naive B-lymphocyte|CD38-positive naive B-cell|CD38-positive naive B lymphocyte	http://purl.obolibrary.org/obo/CL_0002101		
MONDO:0015213	biolink:Disease	non-syndromic visceral malformation		Orphanet:108971	mondo.json	isolated visceral malformation|nonsyndromic visceral malformation	http://purl.obolibrary.org/obo/MONDO_0015213	Orphanet:108971	ordo_group_of_disorders|disease_grouping
CL:0002104	biolink:Cell	IgG-negative double negative memory B cell	An IgG-negative double negative memory B cell is a double negative memory B cell with the phenotype IgG-negative, IgD-negative, and CD27-negative.		mondo.json	IgG-negative double negative memory B lymphocyte|IgG- double negative memory B cell|IgG-negative double negative memory B-lymphocyte|IgG- dn memory B cell|IgG- double negative memory B-cell|IgG- double negative memory B lymphocyte|IgG- dn memory B-cell|IgG- dn memory B lymphocyte|IgG- double negative memory B-lymphocyte|IgG-negative dn memory B cell|IgG- dn memory B-lymphocyte|IgG-negative dn memory B-cell|IgG-negative dn memory B lymphocyte|IgG-negative double negative memory B-cell|IgG-negative dn memory B-lymphocyte	http://purl.obolibrary.org/obo/CL_0002104		
MONDO:0017875	biolink:Disease	Bolivian hemorrhagic fever	Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations.	Orphanet:319229|SCTID:67247008|DOID:0050195|MedDRA:10005932|UMLS:C0282192	mondo.json	Machupo hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0017875	http://identifiers.org/snomedct/67247008|Orphanet:319229|UMLS:C0282192|DOID:0050195	ordo_disease
CL:0002103	biolink:Cell	IgG-positive double negative memory B cell	An IgG-positive double negative memory B cell is a double negative memory B cell with the phenotype IgG-positive, IgD-negative, and CD27-negative.		mondo.json	IgG+ dn memory B cell|IgG+ double negative memory B cell|IgG-positive dn memory B-lymphocyte|IgG+ dn memory B-cell|IgG+ dn memory B lymphocyte|IgG+ double negative memory B-cell|IgG+ double negative memory B lymphocyte|IgG+ dn memory B-lymphocyte|IgG+ double negative memory B-lymphocyte|IgG-positive double negative memory B-cell|IgG-positive dn memory B cell|IgG-positive double negative memory B lymphocyte|IgG-positive double negative memory B-lymphocyte|IgG-positive dn memory B-cell|IgG-positive dn memory B lymphocyte	http://purl.obolibrary.org/obo/CL_0002103		
MONDO:0015219	biolink:Disease	non-syndromic central nervous system malformation	A central nervous system malformation that is not part of a larger syndrome.	Orphanet:108989	mondo.json	nonsyndromic central nervous system malformation|isolated central nervous system malformation	http://purl.obolibrary.org/obo/MONDO_0015219	Orphanet:108989	disease_grouping|ordo_group_of_disorders
MONDO:0017876	biolink:Disease	Venezuelan hemorrhagic fever	Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations.	DOID:0050196|SCTID:359673001|Orphanet:319234|UMLS:C0042470	mondo.json	Guanarito hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0017876	http://identifiers.org/snomedct/359673001|Orphanet:319234|UMLS:C0042470|DOID:0050196	ordo_disease
MONDO:0015218	biolink:Disease	obsolete syndromic developmental defect of the eye	OBSOLETE. A developmental defect of the eye that is part of a larger syndrome.	Orphanet:108987|UMLS:CN226635	mondo.json	syndrome associated with developmental defect of the eye|syndromic developmental defect of the eye	http://purl.obolibrary.org/obo/MONDO_0015218	UMLS:CN226635|Orphanet:108987	ordo_group_of_disorders
MONDO:0017877	biolink:Disease	Brazilian hemorrhagic fever	Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death.	DOID:0050197|Orphanet:319239|SCTID:240524001|UMLS:C0343633	mondo.json	Sabia hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0017877	UMLS:C0343633|Orphanet:319239|http://identifiers.org/snomedct/240524001|DOID:0050197	ordo_disease
CL:0002106	biolink:Cell	IgD-positive CD38-positive IgG memory B cell	An IgD-positive CD38-positive IgG memory B cell is a CD38-positive IgG-positive class switched memory B cell that has class switched and expresses IgD on the cell surface with the phenotype IgD-positive, CD38-positive, and IgG-positive.		mondo.json		http://purl.obolibrary.org/obo/CL_0002106		
MONDO:0017878	biolink:Disease	Chapare hemorrhagic fever	Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since.	UMLS:C4274434|DOID:0050198|UMLS:CN203927|Orphanet:319244|SCTID:716584007	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017878	http://identifiers.org/snomedct/716584007|Orphanet:319244|UMLS:CN203927|UMLS:C4274434|DOID:0050198	ordo_disease
CL:0002105	biolink:Cell	CD38-positive IgG memory B cell	A CD38-positive IgG memory B cell is a class switched memory B cell that expresses IgG on the cell surface with the phenotype CD38-positive and IgG-positive.		mondo.json	CD38+ IgG memory B-lymphocyte|CD38-positive IgG memory B-cell|CD38-positive IgG memory B lymphocyte|CD38-positive IgG memory B-lymphocyte|CD38+ IgG memory B cell|CD38+ IgG memory B-cell|CD38+ IgG memory B lymphocyte	http://purl.obolibrary.org/obo/CL_0002105		
MONDO:0015217	biolink:Disease	non-syndromic developmental defect of the eye	A developmental defect of the eye that is not part of a larger syndrome.	Orphanet:108985	mondo.json	nonsyndromic developmental defect of the eye|isolated developmental defect of the eye	http://purl.obolibrary.org/obo/MONDO_0015217	Orphanet:108985	ordo_group_of_disorders|disease_grouping
MONDO:0017871	biolink:Disease	bilateral massive adrenal hemorrhage		Orphanet:319205|UMLS:CN203920	mondo.json	BMAH|bilateral adrenal hemorrhage	http://purl.obolibrary.org/obo/MONDO_0017871	Orphanet:319205|UMLS:CN203920	ordo_etiological_subtype
MONDO:0017872	biolink:Disease	Lujo hemorrhagic fever	Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission.	UMLS:C4274433|Orphanet:319213|UMLS:CN203921|SCTID:716585008|DOID:0050202	mondo.json	Zambian hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0017872	Orphanet:319213|UMLS:C4274433|UMLS:CN203921|DOID:0050202|http://identifiers.org/snomedct/716585008	ordo_disease
GO:0071326	biolink:NamedThing	cellular response to monosaccharide stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0071326		
MONDO:0017873	biolink:Disease	obsolete Ebola hemorrhagic fever			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017873		
MONDO:0017874	biolink:Disease	Argentine hemorrhagic fever	Argentine hemorrhagic fever (AHF), caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations.	SCTID:58868000|UMLS:C0019097|DOID:0050194|Orphanet:319223	mondo.json	Junin hemorrhagic fever|Argentinian hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0017874	Orphanet:319223|http://identifiers.org/snomedct/58868000|DOID:0050194|UMLS:C0019097	ordo_disease
MONDO:0015212	biolink:Disease	syndromic intestinal malformation	A intestinal malformation that is part of a larger syndrome.	UMLS:CN226629|Orphanet:108969	mondo.json	syndromic intestinal malformation|syndrome associated with intestinal malformation	http://purl.obolibrary.org/obo/MONDO_0015212	Orphanet:108969|UMLS:CN226629	disease_grouping|ordo_group_of_disorders
MONDO:0015211	biolink:Disease	non-syndromic intestinal malformation	A intestinal malformation that is not part of a larger syndrome.	Orphanet:108967	mondo.json	isolated intestinal malformation|nonsyndromic intestinal malformation	http://purl.obolibrary.org/obo/MONDO_0015211	Orphanet:108967	ordo_group_of_disorders|disease_grouping
GO:0071322	biolink:NamedThing	cellular response to carbohydrate stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0071322		
MONDO:0015210	biolink:Disease	syndromic gastroduodenal malformation	A gastroduodenal malformation that is part of a larger syndrome.	Orphanet:108965|UMLS:CN226627	mondo.json	syndrome associated with gastroduodenal malformation|syndromic gastroduodenal malformation	http://purl.obolibrary.org/obo/MONDO_0015210	Orphanet:108965|UMLS:CN226627	ordo_group_of_disorders|disease_grouping
MONDO:0017870	biolink:Disease	supravalvular pulmonary stenosis		GARD:0004594|Orphanet:3192	mondo.json	pulmonary supravalvular stenosis	http://purl.obolibrary.org/obo/MONDO_0017870	Orphanet:3192	gard_rare|ordo_clinical_subtype
MONDO:0003238	biolink:Disease	cervical adenomyoma	A rare, benign, usually polypoid neoplasm that arises from the cervix. It is characterized by the presence of a glandular component and a smooth muscle cell component. Variants include the endocervical type, endometrial type, and atypical polypoid adenomyoma.	DOID:4995|NCIT:C40231|UMLS:C1516404	mondo.json	cervical adenomyoma	http://purl.obolibrary.org/obo/MONDO_0003238	DOID:4995|UMLS:C1516404|NCIT:C40231	
MONDO:0003239	biolink:Disease	obsolete Camurati-Engelmann disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003239		
MONDO:0003234	biolink:Disease	optic nerve astrocytoma	A astrocytoma (excluding glioblastoma) that involves the cranial nerve II.	NCIT:C7533|UMLS:C1336971|DOID:4991|UMLS:C1335114|NCIT:C6769	mondo.json	optic tract astrocytoma|optic tract astrocytoma (excluding glioblastoma)|astrocytic tumor of optic nerve|astrocytoma (excluding glioblastoma) of cranial nerve II|optic nerve astrocytoma|astrocytoma of the optic nerve|astrocytoma of optic nerve|cranial nerve II astrocytoma (excluding glioblastoma)	http://purl.obolibrary.org/obo/MONDO_0003234	DOID:4991|NCIT:C6769|UMLS:C1335114	
MONDO:0005897	biolink:Disease	obsolete paratyphoid fever			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005897		
MONDO:0003235	biolink:Disease	optic nerve glioma	A glioma that affects the optic nerve. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group.	MESH:D020339|DOID:4992|ICD9:237.9|UMLS:C0346326|NCIT:C4537|SCTID:254976006	mondo.json	optic nerve glioma|glioma of cranial nerve II|glioma of optic nerve|cranial nerve II glioma|glioma of the optic nerve	http://purl.obolibrary.org/obo/MONDO_0003235	DOID:4992|http://identifiers.org/snomedct/254976006|http://identifiers.org/mesh/D020339|NCIT:C4537|UMLS:C0346326	
MONDO:0005896	biolink:Disease	Paramyxoviridae infectious disease	Infections with viruses of the family paramyxoviridae. This includes morbillivirus infections; respirovirus infections; pneumovirus infections; henipavirus infections; avulavirus infections; and rubulavirus infections.	EFO:0007419|MESH:D018184	mondo.json	Paramyxoviridae caused disease or disorder|Paramyxoviridae disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005896	http://identifiers.org/mesh/D018184	
MONDO:0005899	biolink:Disease	parotid disorder	A disease involving the parotid gland.	UMLS:C0030579|MESH:D010305|DOID:10302|EFO:0007422	mondo.json	parotid gland disease or disorder|disease of parotid gland|disorder of parotid gland|parotid gland disease|disease or disorder of parotid gland	http://purl.obolibrary.org/obo/MONDO_0005899	http://identifiers.org/mesh/D010305|DOID:10302|UMLS:C0030579	
MONDO:0003236	biolink:Disease	atypical polypoid adenomyoma	An adenomyoma characterized by the presence of marked glandular architectural complexity.	DOID:4993|NCIT:C6895|UMLS:C1300347	mondo.json	atypical polypoid adenomyoma|atypical polypoid adenomyoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003236	DOID:4993|UMLS:C1300347|NCIT:C6895	
UBERON:0014491	biolink:AnatomicalEntity	middle phalanx of digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014491		
MONDO:0003237	biolink:Disease	adenomyoma of uterine corpus	A usually polypoid, benign neoplasm that arises from the uterine corpus. It is characterized by the presence of benign epithelial glands embedded in benign fibromyomatous tissue.	DOID:4994|NCIT:C6338|UMLS:C1336903	mondo.json	uterine body adenomyoma|adenomyoma of body of uterus|adenomyoma of the corpus uteri|adenomyoma of uterine corpus|adenomyoma of the body of uterus|adenomyoma of the uterine corpus|uterine corpus adenomyoma|adenomyoma of corpus uteri|corpus uteri adenomyoma|body of uterus adenomyoma|adenomyoma of uterine body|adenomyoma of the uterine body	http://purl.obolibrary.org/obo/MONDO_0003237	DOID:4994|NCIT:C6338|UMLS:C1336903	
MONDO:0005898	biolink:Disease	paronychia	An acute or chronic infection of the soft tissues around the nail. Symptoms include pain, tenderness, erythema, and swelling around the nail. Acute infection results from minor trauma to the fingertip and Staphylococcus aureus is usually the causative agent. Chronic infection is usually caused by Candida albicans.	MESH:D010304|DOID:13117|EFO:0007421|NCIT:C79702|SCTID:71906005|HP:0001818|ICD9:681.9|UMLS:C0030578	mondo.json	paronychia (disease)|onychia and paronychia of finger|onychia and paronychia of toe|fungal nail infection|paronychia inflammation|infected nailfold|paronychia	http://purl.obolibrary.org/obo/MONDO_0005898	http://identifiers.org/mesh/D010304|NCIT:C79702|http://identifiers.org/snomedct/71906005|UMLS:C0030578|DOID:13117	
GO:1900449	biolink:NamedThing	regulation of glutamate receptor signaling pathway	Any process that modulates the frequency, rate or extent of glutamate receptor signaling pathway.		mondo.json	regulation of glutamate signaling pathway|regulation of glutamate signalling pathway	http://purl.obolibrary.org/obo/GO_1900449		
MONDO:0005893	biolink:Disease	pancreatic endocrine carcinoma	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma.	MESH:D018273|NCIT:C3770|DOID:1798|ICDO:8150/3|ICD10CM:C25.4|UMLS:C1328479|ICD9:157.4|SCTID:254612002|Orphanet:506098|EFO:0007416	mondo.json	islet cell carcinoma|pancreatic NEC|islet cell cancer|neuroendocrine carcinoma of pancreas|poorly differentiated pancreatic endocrine carcinoma|pancreatic neuroendocrine carcinoma|pancreatic endocrine cancer|poorly-differentiated pancreatic NEN|pancreatic NEC G3|poorly-differentiated pancreatic neuroendocrine neoplasm|poorly-differentiated NEN of pancreas|poorly-differentiated neuroendocrine neoplasm of pancreas|high-grade pancreatic neuroendocrine carcinoma|carcinoma, islet cell, malignant|carcinoma of endocrine pancreas|endocrine pancreas carcinoma|high grade pancreatic neuroendocrine carcinoma|Pancreatic Neuroendocrine cancer|malignant pancreatic endocrine tumor|malignant neoplasm of islets of Langerhans|pancreatic endocrine carcinoma|malignant islet cell tumor|islet cell carcinoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0005893	http://identifiers.org/mesh/D018273|Orphanet:506098|DOID:1798|NCIT:C3770|http://identifiers.org/snomedct/254612002|UMLS:C1328479|http://purl.bioontology.org/ontology/ICD10CM/C25.4	ordo_disease
CHEBI:37806	biolink:ChemicalSubstance	penicillanic acid	A penam that consists of 3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane bearing a carboxy group at position 2 and having (2S,5R)-configuration.		mondo.json	penicillanic acid|(2S,5R)-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid|2,2-dimethylpenam-3alpha-carboxylic acid	http://purl.obolibrary.org/obo/CHEBI_37806		
MONDO:0003230	biolink:Disease	obsolete extraosseous Ewings sarcoma-primitive neuroepithelial tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003230		
CL:0002119	biolink:Cell	CD38-positive IgG-negative class switched memory B cell	A CD38-positive IgG-negative memory B cell is an IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD38-positive and IgG-negative.		mondo.json		http://purl.obolibrary.org/obo/CL_0002119		
MONDO:0003231	biolink:Disease	acute nonparalytic poliomyelitis	A poliomyelitis that does not exhibit paralysis.	SCTID:14535005|ICD9:045.20|ICD10CM:A80.4|ICD9:045.2|UMLS:C0152998|DOID:4986|ICD9:045.23|ICD9:045.22	mondo.json	nonparalytic poliomyelitis|acute nonparalytic poliomyelitis|non-paralytic aseptic meningitis	http://purl.obolibrary.org/obo/MONDO_0003231	DOID:4986|http://purl.bioontology.org/ontology/ICD10CM/A80.4|UMLS:C0152998|http://identifiers.org/snomedct/14535005	
MONDO:0005892	biolink:Disease	otitis media with effusion	Otitis media associated with accumulation of fluid in the middle ear.	ICD9:381.29|MESH:D010034|NCIT:C34886|SCTID:78868004|EFO:0007415|ICD9:381.20	mondo.json	serous otitis Media|secretory otitis Media|OME	http://purl.obolibrary.org/obo/MONDO_0005892	http://identifiers.org/snomedct/78868004|NCIT:C34886|http://identifiers.org/mesh/D010034	
CL:0002118	biolink:Cell	CD38-negative IgG-negative class switched memory B cell	A CD38-negative IgG-negative memory B cell is a IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD38-negative and IgG-negative.		mondo.json		http://purl.obolibrary.org/obo/CL_0002118		
MONDO:0005895	biolink:Disease	paragonimiasis	A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia.	NCIT:C84995|SCTID:30369007|DOID:10699|MESH:D010237|EFO:0007418|ICD9:121.2|UMLS:C0030424|GARD:0009815|ICD10CM:B66.4	mondo.json	lung fluke infection|Paragonimus westermani disease or disorder|infection by Paragonimus|pulmonary paragonimiasis|lung fluke disease|Paragonimus westermani infectious disease|Paragonimus westermani caused disease or disorder|Paragonimus westermani infection	http://purl.obolibrary.org/obo/MONDO_0005895	http://purl.bioontology.org/ontology/ICD10CM/B66.4|http://identifiers.org/mesh/D010237|DOID:10699|NCIT:C84995|http://identifiers.org/snomedct/30369007|UMLS:C0030424	gard_rare
MONDO:0003232	biolink:Disease	alcoholic pancreatitis	Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics.	SCTID:445507008|UMLS:C0376670|MESH:D019512|DOID:4988|EFO:1002013	mondo.json	alcoholic pancreatitis	http://purl.obolibrary.org/obo/MONDO_0003232	DOID:4988|http://identifiers.org/mesh/D019512|http://identifiers.org/snomedct/445507008|UMLS:C0376670	
NCBITaxon:565995	biolink:OrganismalEntity	Bundibugyo ebolavirus		GC_ID:1	mondo.json	BDBV|Bundibugyo virus|Ebolavirus bundibugyo	http://purl.obolibrary.org/obo/NCBITaxon_565995		
MONDO:0005894	biolink:Disease	paracoccidioidomycosis	A systemic fungal infection caused by Paracoccidioides brasiliensis that is most often seen in immunocompromised patients. It affects the mucous membranes, lymph nodes, lungs and bones.	NCIT:C34891|GARD:0007323|Orphanet:73260|MESH:D010229|ICD9:116.1|EFO:0007417|UMLS:C0030409|MedDRA:10061906|SCTID:36866003|ICD10CM:B41|DOID:12662	mondo.json	lobo disease|Lutz-Splendore-Almeida disease|Paracoccidioidal granuloma|mucocutaneous-lymphangitic paracoccidioidomycosis|South American blastomycosis|PCM|paracoccidioidal mycosis	http://purl.obolibrary.org/obo/MONDO_0005894	http://identifiers.org/mesh/D010229|DOID:12662|http://identifiers.org/snomedct/36866003|Orphanet:73260|UMLS:C0030409|http://purl.bioontology.org/ontology/ICD10CM/B41|NCIT:C34891	ordo_disease|gard_rare
MONDO:0003233	biolink:Disease	essential tremor	A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)	OMIMPS:190300|MESH:D020329|Orphanet:862|DOID:4990|EFO:0003108|UMLS:C0270736|ICD9:333.1|SCTID:609558009|ICD10CM:G25.0	mondo.json	shaky hand syndrome|tremor, hereditary essential|benign essential tremor|essential hereditary tremor	http://purl.obolibrary.org/obo/MONDO_0003233	Orphanet:862|http://purl.bioontology.org/ontology/ICD10CM/G25.0|DOID:4990|http://identifiers.org/snomedct/609558009|https://omim.org/phenotypicSeries/PS190300|http://identifiers.org/mesh/D020329|UMLS:C0270736	
MONDO:0005891	biolink:Disease	ostertagiasis	A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus ostertagia.	DOID:3985|UMLS:C0029471|EFO:0007414|MESH:D010029	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005891	DOID:3985|UMLS:C0029471|http://identifiers.org/mesh/D010029	
MONDO:0005890	biolink:Disease	osteitis fibrosa	A disorder that is characterized by bone cysts and fractures, resulting from hyperparathyroidism.	NCIT:C34875|SCTID:84727000|UMLS:C0029405|EFO:0007413|DOID:3341|MESH:D010002	mondo.json	Von Recklinghausen disease of Bone|osteitis fibrosa cystica|Von Recklinghausen's bone disease|osteitis fibrosa cystica generalisata|Von Recklinghausen's disease of Bone|hyperparathyroid bone disease	http://purl.obolibrary.org/obo/MONDO_0005890	UMLS:C0029405|http://identifiers.org/snomedct/84727000|NCIT:C34875|DOID:3341|http://identifiers.org/mesh/D010002	
CL:0002111	biolink:Cell	CD38-negative unswitched memory B cell	An CD38-negative unswitched memory B cell is an unswitched memory B cell that has the phenotype CD38-negative, IgD-positive, CD138-negative, and IgG-negative.		mondo.json	CD38- unswitched memory B cell|CD38- unswitched memory B-cell|CD38- unswitched memory B lymphocyte|CD38- unswitched memory B-lymphocyte|CD38-negative unswitched memory B-cell|CD38-negative unswitched memory B lymphocyte|CD38-negative unswitched memory B-lymphocyte	http://purl.obolibrary.org/obo/CL_0002111		
MONDO:0017868	biolink:Disease	diencephalic-mesencephalic junction dysplasia	Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.	Orphanet:319192	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017868	Orphanet:319192	ordo_morphological_anomaly
MONDO:0015205	biolink:Disease	isolated lissencephaly type 1 without known genetic defects	Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly. It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.	UMLS:CN226623|Orphanet:1084|SCTID:715406003|UMLS:C4275151	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015205	UMLS:CN226623|http://identifiers.org/snomedct/715406003|UMLS:C4275151|Orphanet:1084	ordo_disease
CL:0002110	biolink:Cell	B220-low CD38-positive naive B cell	A B220-low CD38-positive naive B cell is a CD38-positive naive B cell that has the phenotype B220-low, CD38-positive, surface IgD-positive, surface IgM-positive, and CD27-negative, that has not yet been activated by antigen in the periphery.		mondo.json		http://purl.obolibrary.org/obo/CL_0002110		
MONDO:0015204	biolink:Disease	microlissencephaly	Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.	UMLS:C1956147|Orphanet:1083	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015204	UMLS:C1956147|Orphanet:1083	ordo_morphological_anomaly
MONDO:0017869	biolink:Disease	chondroectodermal dysplasia with night blindness	Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.	Orphanet:319195	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017869	Orphanet:319195	ordo_disease
MONDO:0015203	biolink:Disease	coronary artery congenital malformation		MedDRA:10061060|Orphanet:1081	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015203	Orphanet:1081	ordo_group_of_disorders|disease_grouping
CL:0002113	biolink:Cell	B220-low CD38-negative unswitched memory B cell	A B220-low CD38-negative unswitched memory B cell is a CD38-negative unswitched memory B cell that has the phenotype B220-low, CD38-negative, IgD-positive, CD138-negative, and IgG-negative.		mondo.json		http://purl.obolibrary.org/obo/CL_0002113		
CL:0002112	biolink:Cell	B220-positive CD38-negative unswitched memory B cell	A B220-positive CD38-negative unswitched memory B cell is a CD38-negative unswitched memory B cell that has the phenotype B220-positive, CD38-negative, IgD-positive, CD138-negative, and IgG-negative.		mondo.json		http://purl.obolibrary.org/obo/CL_0002112		
MONDO:0015202	biolink:Disease	obsolete babesiosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015202		
MONDO:0015209	biolink:Disease	non-syndromic gastroduodenal malformation	A gastroduodenal malformation that is not part of a larger syndrome.	Orphanet:108963	mondo.json	isolated gastroduodenal malformation|nonsyndromic gastroduodenal malformation	http://purl.obolibrary.org/obo/MONDO_0015209	Orphanet:108963	disease_grouping|ordo_group_of_disorders
MONDO:0017864	biolink:Disease	congenital pulmonary veins atresia or stenosis	Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects.	GARD:0004598|Orphanet:3188|UMLS:C0340756|SCTID:234062003	mondo.json	pulmonary vein stenosis|pulmonary veins stenosis	http://purl.obolibrary.org/obo/MONDO_0017864	http://identifiers.org/snomedct/234062003|UMLS:C0340756|Orphanet:3188	ordo_morphological_anomaly
CL:0002115	biolink:Cell	B220-positive CD38-positive unswitched memory B cell	A B220-positive CD38-positive unswitched memory B cell is a CD38-positive unswitched memory B cell that has the phenotype B220-positive, CD38-positive, IgD-positive, CD138-negative, and IgG-negative.		mondo.json		http://purl.obolibrary.org/obo/CL_0002115		
MONDO:0015208	biolink:Disease	syndromic esophageal malformation	A esophageal malformation that is part of a larger syndrome.	UMLS:CN226625|Orphanet:108961	mondo.json	syndromic esophageal malformation|syndrome associated with esophageal malformation	http://purl.obolibrary.org/obo/MONDO_0015208	Orphanet:108961|UMLS:CN226625	disease_grouping|ordo_group_of_disorders
MONDO:0017865	biolink:Disease	congenital pulmonary valve stenosis	Congenital pulmonary stenosis (PS) is a congenital heart malformation that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS).	MESH:D011666|Orphanet:3189|MedDRA:10037451|GARD:0004596|ICD10CM:Q22.1	mondo.json	heart valve pulmonary stenosis|valvar pulmonary stenosis|valvate pulmonary stenosis|valvular pulmonary stenosis	http://purl.obolibrary.org/obo/MONDO_0017865	http://purl.bioontology.org/ontology/ICD10CM/Q22.1|Orphanet:3189	ordo_morphological_anomaly|gard_rare
CL:0002114	biolink:Cell	CD38-positive unswitched memory B cell	A CD38-positive unswitched memory B cell is an unswitched memory B cell that has the phenotype CD38-positive, IgD-positive, CD138-negative, and IgG-negative.		mondo.json	CD38+ unswitched memory B cell|CD38-positive unswitched memory B-lymphocyte|CD38+ unswitched memory B-cell|CD38+ unswitched memory B lymphocyte|CD38+ unswitched memory B-lymphocyte|CD38-positive unswitched memory B-cell|CD38-positive unswitched memory B lymphocyte	http://purl.obolibrary.org/obo/CL_0002114		
MONDO:0015207	biolink:Disease	non-syndromic esophageal malformation	A esophageal malformation that is not part of a larger syndrome.	Orphanet:108959	mondo.json	nonsyndromic esophageal malformation|isolated esophageal malformation	http://purl.obolibrary.org/obo/MONDO_0015207	Orphanet:108959	disease_grouping|ordo_group_of_disorders
CL:0002117	biolink:Cell	IgG-negative class switched memory B cell	A class switched memory B cell that lacks IgG on the cell surface.		mondo.json	IgG- class switched memory B cell|IgG- class switched memory B-cell|IgG- class switched memory B lymphocyte|IgG- class switched memory B-lymphocyte|IgG-negative class switched memory B-cell|IgG-negative class switched memory B lymphocyte|IgG-negative class switched memory B-lymphocyte	http://purl.obolibrary.org/obo/CL_0002117		
MONDO:0017866	biolink:Disease	subpulmonary stenosis		UMLS:C3165028|SCTID:448476001|GARD:0005051|Orphanet:3190	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017866	http://identifiers.org/snomedct/448476001|Orphanet:3190|UMLS:C3165028	gard_rare|ordo_clinical_subtype
CL:0002116	biolink:Cell	B220-low CD38-positive unswitched memory B cell	A B220-low CD38-positive unswitched memory B cell is a CD38-positive unswitched memory B cell that has the phenotype B220-low, CD38-positive, IgD-positive, CD138-negative, and IgG-negative.		mondo.json		http://purl.obolibrary.org/obo/CL_0002116		
MONDO:0017867	biolink:Disease	distal 17p13.1 microdeletion syndrome	Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.	Orphanet:319171|UMLS:CN203914	mondo.json	distal del(17)(p13.1)	http://purl.obolibrary.org/obo/MONDO_0017867	Orphanet:319171|UMLS:CN203914	ordo_malformation_syndrome
MONDO:0015206	biolink:Disease	short stature-heart defect-craniofacial anomalies syndrome		Orphanet:1088|MESH:C535871|GARD:0004739|UMLS:C2931050	mondo.json	short stature heart defect and craniofacial anomalies|Rommen-Mueller-Sybert syndrome|Rommen Mueller Sybert syndrome	http://purl.obolibrary.org/obo/MONDO_0015206	UMLS:C2931050|http://identifiers.org/mesh/C535871	ordo_malformation_syndrome
MONDO:0017860	biolink:Disease	methanol poisoning	Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure).	Orphanet:31825|UMLS:CN203895	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017860	UMLS:CN203895|Orphanet:31825	ordo_disease
MONDO:0017861	biolink:Disease	ethylene glycol poisoning	Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure.	SCTID:426692001|ICD9:982.8|Orphanet:31826	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017861	http://identifiers.org/snomedct/426692001|Orphanet:31826	ordo_disease
HGNC:9277	biolink:NamedThing	PPM1D			mondo.json		http://identifiers.org/hgnc/9277		
MONDO:0017862	biolink:Disease	paraquat poisoning	Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported.	UMLS:CN227212|Orphanet:31827	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017862	Orphanet:31827|UMLS:CN227212	ordo_disease
MONDO:0017863	biolink:Disease	digitalis poisoning	Digitalis (digoxin) poisoning is a potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances.	SCTID:12876009|Orphanet:31828|UMLS:CN203897	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017863	Orphanet:31828|UMLS:CN203897|http://identifiers.org/snomedct/12876009	ordo_clinical_situation
MONDO:0015201	biolink:Disease	ankyloblepharon filiforme-imperforate anus syndrome	An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.	Orphanet:1074|UMLS:CN197555	mondo.json	ankyloblepharon filiforme adnatum-imperforate anus syndrome|Aughton-Hufnagle syndrome	http://purl.obolibrary.org/obo/MONDO_0015201	UMLS:CN197555|Orphanet:1074	ordo_malformation_syndrome
MONDO:0015200	biolink:Disease	anisakiasis	Infection with roundworms of the genus anisakis. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute nausea; vomiting; or penetrate into the wall of the digestive tract where they give rise to eosinophilic granuloma in the stomach; intestines; or the omentum.	GARD:0000693|ICD10CM:B81.0|EFO:0007146|NCIT:C128393|MESH:D017129|DOID:7033|Orphanet:1070|UMLS:C0162576|SCTID:442652006|ICD9:127.1|MedDRA:10002533	mondo.json	Anisakiases|Pseudoterranova infection|Anisakis simplex infection|Anisakis infection|infections, Anisakis simplex|infection by Anisakis larva	http://purl.obolibrary.org/obo/MONDO_0015200	NCIT:C128393|http://identifiers.org/mesh/D017129|DOID:7033|http://identifiers.org/snomedct/442652006|Orphanet:1070|http://purl.bioontology.org/ontology/ICD10CM/B81.0|UMLS:C0162576	ordo_disease|gard_rare
GO:0071310	biolink:NamedThing	cellular response to organic substance	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0071310		
HGNC:9279	biolink:NamedThing	PDP1			mondo.json		http://identifiers.org/hgnc/9279		
MONDO:0005868	biolink:Disease	myelophthisic anemia	A laboratory test result indicating an abnormal amount of circulating nucleated red blood cells and immature red blood cells.	ICD9:285.8|UMLS:C0002890|NCIT:C36218|ICD10CM:D61.82|DOID:2354|EFO:0007388|MESH:D000750|SCTID:2694001	mondo.json	anemia, leukoerythroblastic|leukoerythroblastosis|anemia LEUKOERYTHROBLASTIC|leukoerythroblastic reaction|myelophthisis	http://purl.obolibrary.org/obo/MONDO_0005868	UMLS:C0002890|http://identifiers.org/mesh/D000750|DOID:2354|http://purl.bioontology.org/ontology/ICD10CM/D61.82|NCIT:C36218|http://identifiers.org/snomedct/2694001	
MONDO:0003205	biolink:Disease	renal pelvis adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the renal pelvis	UMLS:C1335748|DOID:4918|NCIT:C6143	mondo.json	kidney renal pelvis adenocarcinoma|adenocarcinoma of the kidney pelvis|adenocarcinoma of renal pelvis|renal pelvis adenocarcinoma|kidney pelvis adenocarcinoma|adenocarcinoma of kidney pelvis|adenocarcinoma of the renal pelvis	http://purl.obolibrary.org/obo/MONDO_0003205	DOID:4918|NCIT:C6143|UMLS:C1335748	
MONDO:0005867	biolink:Disease	Mycoplasma pneumoniae pneumonia	Interstitial pneumonia caused by extensive infection of the lungs (lung) and bronchi, particularly the lower lobes of the lungs, by mycoplasma pneumoniae in humans. In sheep, it is caused by mycoplasma ovipneumoniae. In cattle, it may be caused by mycoplasma dispar.	MESH:D011019|DOID:13276|SCTID:46970008|NCIT:C122526|GARD:0007125|EFO:0007387|ICD9:483.0	mondo.json	cold agglutinin positive pneumonia|pneumonia due to Mycoplasma pneumoniae (disorder)|pneumonia due to Eaton's agent|Mycoplasmal pneumonia|pneumonia due to Mycoplasma pneumoniae|Mycoplasma pneumonia	http://purl.obolibrary.org/obo/MONDO_0005867	NCIT:C122526|http://identifiers.org/mesh/D011019|DOID:13276|http://identifiers.org/snomedct/46970008	
HGNC:9280	biolink:NamedThing	PPOX			mondo.json		http://identifiers.org/hgnc/9280		
MONDO:0003206	biolink:Disease	acquired hemangioma	A hemangioma that is not present at birth but develops later in life.	UMLS:C0856897|DOID:492|NCIT:C27018	mondo.json	acquired hemangioma	http://purl.obolibrary.org/obo/MONDO_0003206	DOID:492|UMLS:C0856897|NCIT:C27018	
UBERON:0014483	biolink:AnatomicalEntity	distal phalanx of digit 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014483		
MONDO:0003207	biolink:Disease	obsolete eccrine adenocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003207		
MONDO:0003208	biolink:Disease	breast secretory carcinoma	A rare, low grade invasive adenocarcinoma of the breast characterized by the presence of cells that secrete milk-like material. Morphologically, it usually appears as a circumscribed lesion, composed of cystic spaces, tubular structures, and solid areas.	ICDO:8502/3|DOID:4922|ONCOTREE:JSCB|UMLS:C0334371|GARD:0009408|NCIT:C4189|ICDO:8508/3|MESH:C537535	mondo.json	JSCB|secretory carcinoma of breast|juvenile secretory carcinoma of breast|secretory carcinoma of the breast|juvenile carcinoma (formerly)|juvenile secretory carcinoma of the breast|invasive cystic hypersecretory duct breast carcinoma|juvenile secretory breast carcinoma|secretory breast carcinoma|secretory carcinoma|juvenile carcinoma of the breast (morphologic abnormality)|juvenile carcinoma of the breast|juvenile carcinoma of breast|SBC|cystic hypersecretory breast carcinoma|juvenile breast carcinoma|infiltrating cystic hypersecretory duct breast carcinoma|cystic hypersecretory carcinoma of breast|cystic hypersecretory carcinoma of the breast	http://purl.obolibrary.org/obo/MONDO_0003208	http://identifiers.org/mesh/C537535|DOID:4922|NCIT:C4189|UMLS:C0334371	gard_rare
MONDO:0005869	biolink:Disease	obsolete myiasis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005869		
MONDO:0005864	biolink:Disease	muscle cancer	A malignant neoplasm affecting the skeletal or smooth muscles. Malignant neoplasms arising from the skeletal muscles are called rhabdomyosarcomas. Malignant neoplasms arising from the smooth muscles are called leiomyosarcomas.	ICD9:171.9|ICDO:8895/3|UMLS:C0027095|DOID:4045|EFO:0007384|SCTID:363495004|NCIT:C4883|UMLS:C0684743	mondo.json	muscle structure cancer|malignant muscle neoplasm|malignant neoplasm of muscle structure|malignant tumor of muscle|malignant neoplasm of the muscle|malignant tumor of the muscle|malignant muscle structure neoplasm|malignant muscle tumor|malignant neoplasm of muscle|cancer of muscle structure|myosarcoma	http://purl.obolibrary.org/obo/MONDO_0005864	http://identifiers.org/snomedct/363495004|DOID:4045|UMLS:C0684743|UMLS:C0027095|NCIT:C4883	
MONDO:0003201	biolink:Disease	obsolete esophagus adenocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003201		
MONDO:0003202	biolink:Disease	pituitary gland basophilic carcinoma		UMLS:C1704778|NCIT:C27392|DOID:4915	mondo.json	basophil adenocarcinoma|basophilic carcinoma|basophil carcinoma (morphologic abnormality)|basophil carcinoma|pituitary gland basophil carcinoma	http://purl.obolibrary.org/obo/MONDO_0003202	DOID:4915|NCIT:C27392|UMLS:C1704778	
MONDO:0005863	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0005863		
MONDO:0005866	biolink:Disease	mycobacterium avium complex disease	An infection that is caused by Mycobacterium avium.	ICD9:031.8|MESH:D015270|SCTID:373436002|DOID:2755|EFO:0007386|GARD:0009236|UMLS:C0026916|NCIT:C36197	mondo.json	Mycobacterium avium Complex|Mycobacterium avium complex disease or disorder|DMAC|Mycobacterium avium complex infectious disease|Mycobacterium avium complex caused disease or disorder|Mycobacterium avium infection|infection due to Mycobacterium intracellulare|disseminated infection with mycobacterium avium complex|MAC disease	http://purl.obolibrary.org/obo/MONDO_0005866	UMLS:C0026916|http://identifiers.org/snomedct/373436002|DOID:2755|http://identifiers.org/mesh/D015270|NCIT:C36197	gard_rare
MONDO:0003203	biolink:Disease	obsolete pituitary carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003203		
MONDO:0003204	biolink:Disease	villous adenocarcinoma	An adenocarcinoma characterized by the presence of a villous architectural pattern. It may arise from a villous adenoma.	ICDO:8262/3|UMLS:C0334306|NCIT:C4142|DOID:4917	mondo.json	villous adenocarcinoma|villous adenocarcinoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003204	DOID:4917|NCIT:C4142|UMLS:C0334306	
MONDO:0005865	biolink:Disease	mushroom workers' lung	An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes.	UMLS:C0155889|DOID:2708|EFO:0007385|ICD9:495.5|SCTID:52333004	mondo.json	shimeji worker's lung|pleurotus worker's lung|pholiota worker's lung|mushroom workers lung|bunashimeji worker's lung|shiitaki worker's lung	http://purl.obolibrary.org/obo/MONDO_0005865	http://identifiers.org/snomedct/52333004|DOID:2708|UMLS:C0155889	
MONDO:0005860	biolink:Disease	obsolete MONDO:0005860			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005860		
MONDO:0005862	biolink:Disease	obsolete multiple chemical sensitivity	OBSOLETE. An acquired disorder characterized by recurrent symptoms, referable to multiple organ systems, occurring in response to demonstrable exposure to many chemically unrelated compounds at doses below those established in the general population to cause harmful effects. (Cullen mr. The worker with multiple chemical sensitivities: an overview. Occup Med 1987;2(4):655-61)	SCTID:702772003|UMLS:C0242992|DOID:4661|EFO:0007382|MESH:D018777	mondo.json	chemical AIDS|20th century disease|total allergy syndrome|idiopathic environmental illness|environmental illness	http://purl.obolibrary.org/obo/MONDO_0005862	DOID:4661|http://identifiers.org/snomedct/702772003|http://identifiers.org/mesh/D018777|UMLS:C0242992	
MONDO:0005861	biolink:Disease	multidrug-resistant tuberculosis	A type of drug-resistant tuberculosis that is resistant to both rifampicin and isoniazid, the two most powerful anti-TB drugs.	SCTID:423092005|UMLS:C0206526|MESH:D018088|DOID:401|NCIT:C128415|EFO:0007381	mondo.json	multidrug-resistant TB|MDR-TB	http://purl.obolibrary.org/obo/MONDO_0005861	DOID:401|NCIT:C128415|UMLS:C0206526|http://identifiers.org/snomedct/423092005|http://identifiers.org/mesh/D018088	
MONDO:0003200	biolink:Disease	urethra adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the urethra	DOID:4910|ONCOTREE:UAD|UMLS:C1336885|NCIT:C6167	mondo.json	urethral adenocarcinoma|adenocarcinoma of the urethra|urethra adenocarcinoma|UAD|adenocarcinoma of urethra	http://purl.obolibrary.org/obo/MONDO_0003200	DOID:4910|NCIT:C6167|UMLS:C1336885	
GO:1900451	biolink:NamedThing	positive regulation of glutamate receptor signaling pathway	Any process that activates or increases the frequency, rate or extent of glutamate receptor signaling pathway.		mondo.json	up-regulation of glutamate signaling pathway|positive regulation of glutamate signalling pathway|up regulation of glutamate signalling pathway|up regulation of glutamate signaling pathway|positive regulation of glutamate signaling pathway|upregulation of glutamate receptor signaling pathway|up-regulation of glutamate signalling pathway|upregulation of glutamate signaling pathway|activation of glutamate signaling pathway|up regulation of glutamate receptor signaling pathway|activation of glutamate signalling pathway|upregulation of glutamate signalling pathway|up-regulation of glutamate receptor signaling pathway|activation of glutamate receptor signaling pathway	http://purl.obolibrary.org/obo/GO_1900451		
GO:1900450	biolink:NamedThing	negative regulation of glutamate receptor signaling pathway	Any process that stops, prevents or reduces the frequency, rate or extent of glutamate receptor signaling pathway.		mondo.json	downregulation of glutamate signaling pathway|inhibition of glutamate signalling pathway|down regulation of glutamate receptor signaling pathway|inhibition of glutamate receptor signaling pathway|inhibition of glutamate signaling pathway|down-regulation of glutamate receptor signaling pathway|downregulation of glutamate signalling pathway|down-regulation of glutamate signaling pathway|negative regulation of glutamate signaling pathway|down regulation of glutamate signalling pathway|down regulation of glutamate signaling pathway|negative regulation of glutamate signalling pathway|down-regulation of glutamate signalling pathway|downregulation of glutamate receptor signaling pathway	http://purl.obolibrary.org/obo/GO_1900450		
UBERON:0014487	biolink:AnatomicalEntity	distal phalanx of digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014487		
MONDO:0017857	biolink:Disease	spina bifida-hypospadias syndrome	Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.	UMLS:CN203872|Orphanet:3176	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017857	Orphanet:3176|UMLS:CN203872	ordo_malformation_syndrome
MONDO:0017858	biolink:Disease	acute erythroid leukemia	An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)	UMLS:C0023440|SCTID:93451002|Orphanet:318|ICD9:205.80|ICDO:9840/3|MESH:D004915|GARD:0009620|GARD:0009750|NCIT:C8923|ICD9:207.00	mondo.json	Di Guglielmo's syndrome|acute erythroleukemia M6b subtype|M6 acute myeloid leukemia|acute erythroleukemia M6a subtype|erythroblastic leukemia|acute erythroleukemia|acute myeloid leukemia M6|Di Guglielmo syndrome|leukemia, erythroid, malignant|AEL|acute myeloid leukemia FAB-M6|acute erythroid leukemia|FAB M6|Erythroleukemia|AML-M6|acute erythroblastic leukemia|AML M6	http://purl.obolibrary.org/obo/MONDO_0017858	Orphanet:318|NCIT:C8923|UMLS:C0023440|http://identifiers.org/snomedct/93451002|http://identifiers.org/mesh/D004915	ordo_disease|gard_rare
MONDO:0017859	biolink:Disease	colchicine poisoning	A potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days.	Orphanet:31824|UMLS:CN203894|SCTID:24354007|ICD9:974.7	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017859	http://identifiers.org/snomedct/24354007|Orphanet:31824|UMLS:CN203894	ordo_clinical_situation
MONDO:0017853	biolink:Disease	hypersensitivity pneumonitis	Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized.	SCTID:37471005|ICD10CM:J67.2|Orphanet:31740|GARD:0000012|MedDRA:10001890|DOID:841|ICD10CM:J67.1|ICD9:495.9|NCIT:C34369|ICD9:495|ICD9:495.8|MESH:D000542	mondo.json	allergic form of pneumonitis|extrinsic allergic pneumonia hypersensitivity pneumonitis|alveolitis|allergic pneumonitis|exogen allergic alveolitis|allergic interstitial pneumonitis|alveolitis, extrinsic allergic|hypersensitivity pneumonitis|extrinsic allergic alveolitis|HP	http://purl.obolibrary.org/obo/MONDO_0017853	NCIT:C34369|http://identifiers.org/mesh/D000542|Orphanet:31740|DOID:841|http://identifiers.org/snomedct/37471005	gard_rare|ordo_group_of_disorders|disease_grouping
MONDO:0017854	biolink:Disease	obsolete T-b+ severe combined immunodeficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017854		
MONDO:0017855	biolink:Disease	T-B- severe combined immunodeficiency	T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.	Orphanet:317419	mondo.json	T-B- SCID	http://purl.obolibrary.org/obo/MONDO_0017855	Orphanet:317419	disease_grouping|ordo_group_of_disorders
MONDO:0017856	biolink:Disease	X-linked spasticity-intellectual disability-epilepsy syndrome		Orphanet:3175|OMIM:308350|UMLS:CN203866	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017856	Orphanet:3175|UMLS:CN203866	ordo_disease
MONDO:0017850	biolink:Disease	sirenomelia	Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth.	MedDRA:10049216|NCIT:C118455|UMLS:C0037205|Orphanet:3169|GARD:0007652|SCTID:67254002	mondo.json	mermaid malformation|sirenomelia sequence|mermaid syndrome|Sirenomelus|Fused legs and feet|symmelia	http://purl.obolibrary.org/obo/MONDO_0017850	UMLS:C0037205|Orphanet:3169|NCIT:C118455|http://identifiers.org/snomedct/67254002	ordo_malformation_syndrome
MONDO:0017851	biolink:Disease	erythrokeratodermia variabilis	A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema.	OMIMPS:133200|DOID:0050467|NCIT:C84696|MedDRA:10049048|SCTID:70041004|UMLS:C0265961|MESH:C536154|MESH:D056266|Orphanet:317|Orphanet:316|GARD:0003096	mondo.json	EKV|erythrokeratodermia variabilis, Mendes da Costa type|progressive symmetric erythrokeratodermia|erythrokeratodermia, progressive symmetric|keratoderma palmoplantaris transgrediens|EKVP|erythrokeratodermia variabilis ET progressiva|Greither's disease|keratosis palmoplantaris transgrediens Et progrediens|erythrokeratodermia variabilis with erythema gyratum repens|keratosis palmoplantaris transgrediens et progrediens|erythrokeratodermia variabilis with erythema Gyratum Repens|keratosis extremitatum hereditaria progrediens|erythrokeratodermia progressiva symmetrica|erythrokeratodermia variabilis|progressive symmetric erythrokeratodermia, Gottron type|erythrokeratodermia Figurata variabilis|erythrokeratodermia figurata, congenital familial, in plaques|erythrokeratodermia Figurata, congenital familial, in plaques|Darier-Gottron disease	http://purl.obolibrary.org/obo/MONDO_0017851	http://identifiers.org/snomedct/70041004|DOID:0050467|Orphanet:316|Orphanet:317|https://omim.org/phenotypicSeries/PS133200|UMLS:C0265961|NCIT:C84696|http://identifiers.org/mesh/D056266|http://identifiers.org/mesh/C536154	ordo_disease|gard_rare
MONDO:0017852	biolink:Disease	infantile spasms-broad thumbs syndrome	A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.	GARD:0003002|Orphanet:3173|UMLS:CN203849	mondo.json	Tsao-Ellingson syndrome|infantile spasms broad thumbs|Tsao Ellingson syndrome	http://purl.obolibrary.org/obo/MONDO_0017852	Orphanet:3173|UMLS:CN203849	ordo_disease|gard_rare
GO:0071345	biolink:NamedThing	cellular response to cytokine stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0071345		
NCBITaxon:32066	biolink:OrganismalEntity	Fusobacteria		GC_ID:11|PMID:24969840|PMID:29458499|PMID:26654112	mondo.json	Fusobacteraeota|fusobacteria|Fusobacteriota	http://purl.obolibrary.org/obo/NCBITaxon_32066		
MONDO:0005879	biolink:Disease	ocular toxoplasmosis	Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can beacquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire toxoplasmosis by eating raw or undercooked meat, vegetables or milk products, or by coming into contact with infected cat litterbox or sandboxes.In humans,the infectionusually causes no symptoms, and resolves without treatment in a few months. In individuals with compromised immune systems, Toxoplasm a gondii can reactivate to cause disease. Reactivation of a congenital infection was traditionally thought to be the most common cause ofocular toxoplasmosis, but an acquired infection is now considered to be more common. A toxoplasmosis infection that affects the eye usually attacks the retina andinitially resolves without symptoms. However,the inactive parasite maylaterreactivate causing eyepain, blurred vision, and possibly permanent damage, including blindness. Although most cases of toxoplasmosis resolve on their own,for some,inflammation can be treated with antibiotics and steroids.	MESH:D014126|SCTID:416481006|ICD9:130.7|GARD:0007238|EFO:0007399|UMLS:C0040561	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005879	UMLS:C0040561|http://identifiers.org/snomedct/416481006|http://identifiers.org/mesh/D014126	gard_rare
MONDO:0003216	biolink:Disease	ureter adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the ureter	NCIT:C6155|DOID:4938|UMLS:C1336873	mondo.json	adenocarcinoma of ureter|ureteral adenocarcinoma|adenocarcinoma of the ureter|ureter adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003216	DOID:4938|NCIT:C6155|UMLS:C1336873	
HP:0031093	biolink:PhenotypicFeature	Abnormal breast morphology	Any anomaly of the structure of the breast.		mondo.json		http://purl.obolibrary.org/obo/HP_0031093		
GO:0046395	biolink:NamedThing	carboxylic acid catabolic process	The chemical reactions and pathways resulting in the breakdown of carboxylic acids, any organic acid containing one or more carboxyl (-COOH) groups.		mondo.json	carboxylic acid degradation|carboxylic acid breakdown|carboxylic acid catabolism	http://purl.obolibrary.org/obo/GO_0046395		
MONDO:0005878	biolink:Disease	ocular onchocerciasis	Onchocerciasis affecting the eye.	EFO:0007398|MESH:D015827|SCTID:240842000|NCIT:C34862|UMLS:C0029002	mondo.json	eyeball of camera-type eye onchocerciasis|onchocerciasis of eyeball of camera-type eye	http://purl.obolibrary.org/obo/MONDO_0005878	http://identifiers.org/snomedct/240842000|NCIT:C34862|UMLS:C0029002|http://identifiers.org/mesh/D015827	
MONDO:0003217	biolink:Disease	obsolete ureter carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003217		
HGNC:9291	biolink:NamedThing	PPP1R3A			mondo.json		http://identifiers.org/hgnc/9291		
MONDO:0003218	biolink:Disease	adenocarcinoma in situ	A lesion in which the normally situated glands are partially or completely replaced by atypical cells with malignant characteristics.	ONCOTREE:AIS|DOID:4943|MESH:D065311|ICDO:8140/2|UMLS:C0334276|NCIT:C4123	mondo.json	AIS|adenocarcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0003218	http://identifiers.org/mesh/D065311|DOID:4943|NCIT:C4123|UMLS:C0334276	
GO:0046394	biolink:NamedThing	carboxylic acid biosynthetic process	The chemical reactions and pathways resulting in the formation of carboxylic acids, any organic acid containing one or more carboxyl (-COOH) groups.		mondo.json	carboxylic acid synthesis|carboxylic acid formation|carboxylic acid biosynthesis|carboxylic acid anabolism	http://purl.obolibrary.org/obo/GO_0046394		
MONDO:0003219	biolink:Disease	gastroesophageal junction adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the esophagogastric junction.	DOID:4944|UMLS:C1332166|NCIT:C9296|ONCOTREE:EGC|ONCOTREE:GEJ	mondo.json	gastroesophageal junction adenocarcinoma|adenocarcinoma of the EG junction|adenocarcinoma of cardioesophageal junction|esophagogastric junction adenocarcinoma|adenocarcinoma of the cardioesophageal junction|adenocarcinoma of gastroesophageal junction|adenocarcinoma of the esophagogastric junction|adenocarcinoma of the gastroesophageal junction|adenocarcinoma - GEJ|esophagogastric adenocarcinoma|adenocarcinoma of the GE junction	http://purl.obolibrary.org/obo/MONDO_0003219	UMLS:C1332166|NCIT:C9296|DOID:4944	
MONDO:0003212	biolink:Disease	nasal cavity carcinoma	A carcinoma that arises from epithelial cells of the nasal cavity	DOID:4931|SCTID:448990005|UMLS:C1377785|NCIT:C9336	mondo.json	carcinoma of the nasal cavity|nasal cavity carcinoma|nasal cavity cancer|carcinoma of nasal cavity|cancer of nasal cavity|cancer of the nasal cavity	http://purl.obolibrary.org/obo/MONDO_0003212	DOID:4931|UMLS:C1377785|http://identifiers.org/snomedct/448990005|NCIT:C9336	
MONDO:0005875	biolink:Disease	Newcastle disease	A condition caused by infection by the Newcastle disease virus, which may be characterized by conjunctivitis, respiratory illness, and diarrhea.	NCIT:C34849|MESH:D009521|DOID:2929|EFO:0007395|UMLS:C0027983	mondo.json	Newcastle's disease|pseudo-fowlpest	http://purl.obolibrary.org/obo/MONDO_0005875	NCIT:C34849|DOID:2929|http://identifiers.org/mesh/D009521|UMLS:C0027983	
MONDO:0003213	biolink:Disease	obsolete ampulla of vater carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003213		
MONDO:0005874	biolink:Disease	neuroschistosomiasis	Schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2)	UMLS:C0752191|DOID:13722|EFO:0007394|MESH:D020818	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005874	DOID:13722|http://identifiers.org/mesh/D020818|UMLS:C0752191	
GO:0046390	biolink:NamedThing	ribose phosphate biosynthetic process	The chemical reactions and pathways resulting in the formation of ribose phosphate, any phosphorylated ribose sugar.		mondo.json	ribose phosphate anabolism|ribose phosphate synthesis|ribose phosphate biosynthesis|ribose phosphate formation	http://purl.obolibrary.org/obo/GO_0046390		
MONDO:0003214	biolink:Disease	apocrine adenocarcinoma	A carcinoma with apocrine differentiation arising from the sweat glands. It presents as single or multiple nodular lesions which may be ulcerated or hemorrhagic and is usually in the axilla and less often in the anogenital region. It grows in the dermis and infiltrates subcutaneous tissues. It is characterized by the presence of large cells with abundant eosinophilic cytoplasm and large often vesicular nuclei. Most cases are slow growing tumors and have a prolonged course.	GARD:0012138|ICDO:8401/3|UMLS:C0334346|UMLS:C1706827|NCIT:C4169|DOID:4933	mondo.json	apocrine gland adenocarcinoma|apocrine gland carcinoma|apocrine carcinoma|apocrine adenocarcinoma (morphologic abnormality)|carcinoma of the apocrine gland|carcinoma of apocrine gland	http://purl.obolibrary.org/obo/MONDO_0003214	DOID:4933|UMLS:C1706827|NCIT:C4169|UMLS:C0334346	
MONDO:0005877	biolink:Disease	obsolete nocardiosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005877		
MONDO:0005876	biolink:Disease	Nidovirales infectious disease	Infections with viruses of the order nidovirales. The concept includes arterivirus infections and coronaviridae infections.	MESH:D030341|UMLS:C0969753|EFO:0007396	mondo.json	Nidovirales disease or disorder|Nidovirales caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005876	UMLS:C0969753|http://identifiers.org/mesh/D030341	
MONDO:0003215	biolink:Disease	apocrine sweat gland cancer	A malignant neoplasm involving the apocrine sweat gland.	NCIT:C6800|UMLS:C1334561|DOID:4934	mondo.json	malignant apocrine skin neoplasm|malignant apocrine neoplasm of skin|malignant apocrine skin tumor|malignant neoplasm of apocrine sweat gland|malignant apocrine neoplasm of the skin|malignant apocrine tumor of skin|apocrine sweat gland cancer|malignant apocrine tumor of the skin|malignant apocrine tumor|malignant apocrine neoplasm|cancer of apocrine sweat gland|malignant apocrine sweat gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0003215	DOID:4934|NCIT:C6800|UMLS:C1334561	
MONDO:0005871	biolink:Disease	Nematoda infectious disease	Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in humans. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans.	MESH:D009349|UMLS:C0027583|SCTID:84706005|MESH:D007815|EFO:0007391	mondo.json	Nematoda disease or disorder|disease due to nematoda|nematode infection|Infection, Nematode|Nematode infection|nematodiasis|Infections, Nematode|Disease due to Nematoda|Nematodiasis|Nematode Infection|Nematoda caused disease or disorder|Nematode Infections	http://purl.obolibrary.org/obo/MONDO_0005871	http://identifiers.org/snomedct/84706005|UMLS:C0027583|http://identifiers.org/mesh/D009349	
UBERON:0014478	biolink:AnatomicalEntity	rib skeletal system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014478		
MONDO:0005870	biolink:Disease	necatoriasis	A disorder caused by an infection with hookworms of the genus Necator, which settle in the host's small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia.	NCIT:C34838|UMLS:C0027528|ICD9:126.9|SCTID:36667009|MESH:D009332|ICD10CM:B76.1|EFO:0007390|DOID:2790	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005870	NCIT:C34838|http://purl.bioontology.org/ontology/ICD10CM/B76.1|DOID:2790|http://identifiers.org/snomedct/36667009|UMLS:C0027528|http://identifiers.org/mesh/D009332	
MONDO:0003210	biolink:Disease	intrahepatic cholangiocarcinoma	A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor.	ONCOTREE:IHCH|DOID:4928|NCIT:C35417|SCTID:109842005|GARD:0006042|UMLS:C0345905|EFO:1001961	mondo.json	peripheral cholangiocarcinoma|IHCH|intrahepatic Cholangiocellular carcinoma|intrahepatic carcinoma of the bile duct|intrahepatic carcinoma of bile duct|intrahepatic cholangiocarcinoma (bile duct cancer)|cholangiocarcinoma, intrahepatic, malignant|intrahepatic bile duct cancer (cholangiocarcinoma)|intrahepatic bile duct carcinoma|intrahepatic cholangiocarcinoma|ICC	http://purl.obolibrary.org/obo/MONDO_0003210	DOID:4928|http://identifiers.org/snomedct/109842005|NCIT:C35417|UMLS:C0345905	gard_rare
MONDO:0005873	biolink:Disease	neuroaspergillosis	Infections of the nervous system caused by fungi of the genus aspergillus, most commonly aspergillus fumigatus. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with immunologic deficiency syndromes. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing meningitis, fungal; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3)	UMLS:C0752342|MESH:D020953|EFO:0007393|DOID:13565	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005873	DOID:13565|http://identifiers.org/mesh/D020953|UMLS:C0752342	
MONDO:0005872	biolink:Disease	nervous system cancer	A primary or metastatic malignant neoplasm involving the nervous system.	ICD9:192.8|DOID:3093|MESH:D009423|ICD9:192.9|NCIT:C4788|ICD9:192|EFO:0007392|SCTID:372063002	mondo.json	cancer of nervous system|malignant tumor of nervous system|neural tumor|malignant tumor of the nervous system|malignant neoplasm of nervous system|nervous system neoplasms, malignant|nervous system cancer|nervous system neoplasm|tumor of the nervous system|neural neoplasm|malignant neoplasm of the nervous system|malignant nervous system tumor|malignant nervous system neoplasm	http://purl.obolibrary.org/obo/MONDO_0005872	DOID:3093|NCIT:C4788|http://identifiers.org/mesh/D009423|http://identifiers.org/snomedct/372063002	
MONDO:0003211	biolink:Disease	nasal cavity adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the nasal cavity	DOID:4930|UMLS:C1334920|NCIT:C6015	mondo.json	adenocarcinoma of nasal cavity|adenocarcinoma of the nasal cavity|nasal cavity adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003211	DOID:4930|NCIT:C6015|UMLS:C1334920	
MONDO:0017839	biolink:Disease	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form	The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency.	Orphanet:315306	mondo.json	classic 21-OHD CAH, salt wasting form	http://purl.obolibrary.org/obo/MONDO_0017839	Orphanet:315306	ordo_clinical_subtype
HP:0031097	biolink:PhenotypicFeature	Abnormal thyroid-stimulating hormone level	Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.		mondo.json	Abnormal thyrotropin level|Abnormal TSH level|Abnormal circulating thyrotropin concentration	http://purl.obolibrary.org/obo/HP_0031097		
UBERON:0014477	biolink:AnatomicalEntity	thoracic skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014477		
MONDO:0017846	biolink:Disease	autosomal dominant spastic ataxia	Autosomal dominant form of spastic ataxia.	ICD10CM:G11.4|Orphanet:316235|UMLS:CN229111	mondo.json	spastic ataxia, autosomal dominant|AD-SPAX	http://purl.obolibrary.org/obo/MONDO_0017846	Orphanet:316235|UMLS:CN229111	disease_grouping|ordo_group_of_disorders
MONDO:0017847	biolink:Disease	autosomal recessive spastic ataxia	Autosomal recessive form of spastic ataxia.	Orphanet:316240|UMLS:CN229112	mondo.json	spastic ataxia, autosomal recessive|AR-SPAX	http://purl.obolibrary.org/obo/MONDO_0017847	Orphanet:316240|UMLS:CN229112	disease_grouping|ordo_group_of_disorders
MONDO:0017848	biolink:Disease	obsolete partial deletion of the short arm of chromosome 12			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017848		
MONDO:0017849	biolink:Disease	Siegler-Brewer-Carey syndrome	Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed.	SCTID:721076000|GARD:0004867|UMLS:C2931473|MESH:C537335|Orphanet:3167	mondo.json	Siegler Brewer Carey syndrome|fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys	http://purl.obolibrary.org/obo/MONDO_0017849	http://identifiers.org/snomedct/721076000|http://identifiers.org/mesh/C537335|UMLS:C2931473|Orphanet:3167	gard_rare|ordo_malformation_syndrome
MONDO:0017842	biolink:Disease	Senior-Loken syndrome	Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.	Orphanet:3156|GARD:0000322|DOID:0050576|UMLS:CN117960|OMIMPS:266900|MESH:C537580	mondo.json	SLSN|Loken Senior syndrome|renal dysplasia-retinal aplasia syndrome|renal dysplasia retinal aplasia|Senior Loken syndrome|nephronophthisis with retinal dystrophy|renal-retinal syndrome	http://purl.obolibrary.org/obo/MONDO_0017842	http://identifiers.org/mesh/C537580|DOID:0050576|https://omim.org/phenotypicSeries/PS266900|UMLS:CN117960|Orphanet:3156	ordo_disease
MONDO:0017843	biolink:Disease	congenital pulmonary sequestration	A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation.	UMLS:C4020703|SCTID:18620009|MESH:D001998|GARD:0004593|Orphanet:3161|NCIT:C97124	mondo.json	pulmonary sequestration|bronchopulmonary sequestration|congenital bronchopulmonary sequestration|sequestered lobe (pulmonary sequestration)|congenital sequestration of lung	http://purl.obolibrary.org/obo/MONDO_0017843	UMLS:C4020703|http://identifiers.org/mesh/D001998|NCIT:C97124|Orphanet:3161|http://identifiers.org/snomedct/18620009	ordo_malformation_syndrome
MONDO:0017844	biolink:Disease	Sezary syndrome	Sezary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sezary cells).	ICD9:202.2|EFO:1000785|SCTID:118611004|GARD:0007629|ICDO:9701/3|UMLS:C0036920|NCIT:C3366|DOID:8541|MESH:D012751|MedDRA:10040493|ONCOTREE:SS|Orphanet:3162|MedDRA:10040500	mondo.json	SC)zary syndrome|CTCL / Sezary syndrome|cutaneous T-cell lymphoma/Sezary syndrome|Sézary syndrome|Sezary disease|Sezary lymphoma|Sezary's disease|Sézary lymphoma|Sezary syndrome|SS|Sezary's lymphoma	http://purl.obolibrary.org/obo/MONDO_0017844	http://identifiers.org/mesh/D012751|UMLS:C0036920|http://identifiers.org/snomedct/118611004|Orphanet:3162|NCIT:C3366|DOID:8541	ordo_disease
MONDO:0017845	biolink:Disease	spastic ataxia		DOID:0050952|OMIMPS:108600|Orphanet:316226|ICD10CM:G11.4|MESH:C564815|UMLS:C1849156	mondo.json	SPAX	http://purl.obolibrary.org/obo/MONDO_0017845	Orphanet:316226|DOID:0050952|UMLS:C1849156|http://identifiers.org/mesh/C564815|https://omim.org/phenotypicSeries/PS108600	disease_grouping|ordo_group_of_disorders
CHEBI:25806	biolink:ChemicalSubstance	oxygen molecular entity			mondo.json	oxygen molecular entity|oxygen molecular entities	http://purl.obolibrary.org/obo/CHEBI_25806		
CHEBI:25805	biolink:ChemicalSubstance	oxygen atom			mondo.json	8O|oxygene|oxygen|oxygen|O|oxigeno|Sauerstoff	http://purl.obolibrary.org/obo/CHEBI_25805		
MONDO:0017840	biolink:Disease	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form	The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting.	Orphanet:315311	mondo.json	classic 21-OHD CAH, simple virilizing form	http://purl.obolibrary.org/obo/MONDO_0017840	Orphanet:315311	ordo_clinical_subtype
MONDO:0017841	biolink:Disease	obsolete autoimmune disease with skin involvement	OBSOLETE. A hypersensitivity reaction type II disease that involves the skin of body.	UMLS:CN203818|Orphanet:315350|DOID:0060039	mondo.json	integument hypersensitivity reaction type II disease|autoimmune disease of skin and connective tissue|skin of body hypersensitivity reaction type II disease	http://purl.obolibrary.org/obo/MONDO_0017841	Orphanet:315350|DOID:0060039|UMLS:CN203818	ordo_group_of_disorders
MONDO:0003209	biolink:Disease	thymus gland adenocarcinoma	A rare primary thymic carcinoma, characterized by the presence of carcinoma cells with glandular differentiation.	UMLS:C1336743|DOID:4923|NCIT:C6459	mondo.json	adenocarcinoma of the Thymus|adenocarcinoma of Thymus|thymic adenocarcinoma|Thymus adenocarcinoma|thymus adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003209	DOID:4923|NCIT:C6459|UMLS:C1336743	
UBERON:0002495	biolink:AnatomicalEntity	long bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002495		
GO:0071333	biolink:NamedThing	cellular response to glucose stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0071333		
UBERON:0002498	biolink:AnatomicalEntity	deltopectoral crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002498		
GO:0071331	biolink:NamedThing	cellular response to hexose stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0071331		
UBERON:0002497	biolink:AnatomicalEntity	acromion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002497		
UBERON:0002515	biolink:AnatomicalEntity	periosteum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002515		
UBERON:0002514	biolink:AnatomicalEntity	intramembranous bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002514		
UBERON:0002517	biolink:AnatomicalEntity	basicranium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002517		
UBERON:0014501	biolink:AnatomicalEntity	proximal phalanx of digit 1			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014501		
CHEBI:62761	biolink:ChemicalSubstance	tyrosine derivative	An amino acid derivative resulting from reaction of tyrosine at the amino group or the carboxy group, any substitution of phenyl hydrogens, or from the replacement of any hydrogen of tyrosine by a heteroatom. The definition normally excludes peptides containing tyrosine residues.		mondo.json	tyrosine derivatives	http://purl.obolibrary.org/obo/CHEBI_62761		
HP:0031263	biolink:PhenotypicFeature	Abnormal renal corpuscle morphology	Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule.		mondo.json		http://purl.obolibrary.org/obo/HP_0031263		
CHEBI:35134	biolink:ChemicalSubstance	metalloprotein			mondo.json	metalloprotein|metalloproteine|metalloproteins	http://purl.obolibrary.org/obo/CHEBI_35134		
CHEBI:35137	biolink:ChemicalSubstance	hemoprotein	Conjugated proteins containing heme as the prosthetic group.		mondo.json	Haemprotein|hemoproteins|hemoprotein|heme protein|hemeproteins|haemoprotein|Haemoprotein|haem protein	http://purl.obolibrary.org/obo/CHEBI_35137		
CHEBI:35136	biolink:ChemicalSubstance	iron protein			mondo.json	iron protein|iron-containing proteins|iron proteins	http://purl.obolibrary.org/obo/CHEBI_35136		
UBERON:0002522	biolink:AnatomicalEntity	tunica media			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002522		
UBERON:0002521	biolink:AnatomicalEntity	elastic tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002521		
UBERON:0002523	biolink:AnatomicalEntity	tunica intima			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002523		
UBERON:0002507	biolink:AnatomicalEntity	abdominal lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002507		
UBERON:0002509	biolink:AnatomicalEntity	mesenteric lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002509		
UBERON:0002506	biolink:AnatomicalEntity	iris epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002506		
UBERON:0002513	biolink:AnatomicalEntity	endochondral bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002513		
UBERON:0002512	biolink:AnatomicalEntity	corpus luteum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002512		
CHEBI:35143	biolink:ChemicalSubstance	hemoglobin			mondo.json	haemoglobin|vertebrate haemoglobin|hemoglobin	http://purl.obolibrary.org/obo/CHEBI_35143		
CHEBI:23132	biolink:ChemicalSubstance	chlorobenzenes	Any organochlorine compound containing a benzene ring which is substituted by one or more chlorines.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_23132		
GO:0046504	biolink:NamedThing	glycerol ether biosynthetic process	The chemical reactions and pathways resulting in the formation of glycerol ethers, any anhydride formed between two organic hydroxy compounds, one of which is glycerol.		mondo.json	glycerol ether anabolism|glycerol ether synthesis|glycerol ether formation|glycerol ether biosynthesis	http://purl.obolibrary.org/obo/GO_0046504		
GO:0010512	biolink:NamedThing	negative regulation of phosphatidylinositol biosynthetic process	Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol.		mondo.json		http://purl.obolibrary.org/obo/GO_0010512		
GO:0010513	biolink:NamedThing	positive regulation of phosphatidylinositol biosynthetic process	Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol.		mondo.json		http://purl.obolibrary.org/obo/GO_0010513		
GO:0010511	biolink:NamedThing	regulation of phosphatidylinositol biosynthetic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol.		mondo.json		http://purl.obolibrary.org/obo/GO_0010511		
CHEBI:23114	biolink:ChemicalSubstance	chloride salt			mondo.json	chlorides|chloride salts	http://purl.obolibrary.org/obo/CHEBI_23114		
CHEBI:23117	biolink:ChemicalSubstance	chlorine molecular entity	A halogen molecular entity containing one or more atoms of chlorine.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_23117		
UBERON:0002558	biolink:AnatomicalEntity	organ cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002558		
CHEBI:23116	biolink:ChemicalSubstance	chlorine atom			mondo.json	chlorine|cloro|chlorum|17Cl|chlorine|chlore|Chlor|Cl	http://purl.obolibrary.org/obo/CHEBI_23116		
CHEBI:50733	biolink:ChemicalSubstance	nutraceutical	A product in capsule, tablet or liquid form that provide essential nutrients, such as a vitamin, an essential mineral, a protein, an herb, or similar nutritional substance.		mondo.json	Food Supplementation|Nutritional supplement|Dietary Supplement	http://purl.obolibrary.org/obo/CHEBI_50733		
UBERON:0014547	biolink:AnatomicalEntity	sacral division of spinal cord central canal			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014547		
UBERON:0014540	biolink:AnatomicalEntity	white matter lamina of cerebellum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014540		
UBERON:0014541	biolink:AnatomicalEntity	thoracic division of spinal cord central canal			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014541		
UBERON:0014542	biolink:AnatomicalEntity	cervical division of cord spinal central canal			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014542		
UBERON:0014543	biolink:AnatomicalEntity	lumbar division of spinal cord central canal			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014543		
UBERON:0014538	biolink:AnatomicalEntity	subdivision of spinal cord central canal			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014538		
CHEBI:74783	biolink:ChemicalSubstance	astringent	A compound that causes the contraction of body tissues, typically used to reduce bleeding from minor abrasions.		mondo.json	adstringents|astringents|adstringent	http://purl.obolibrary.org/obo/CHEBI_74783		
UBERON:0002561	biolink:AnatomicalEntity	lumen of central nervous system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002561		
CHEBI:23123	biolink:ChemicalSubstance	chloroacetate	A haloacetate(1-) resulting from the deprotonation of the carboxy group of chloroacetic acid.		mondo.json	monochloroacetic acid anion|monochloroacetate anion|mono-chloroacetate|chloroacetate|chloroacetate(1-)|Chloroacetic acid ion(1-)|chloroacetate anion	http://purl.obolibrary.org/obo/CHEBI_23123		
UBERON:0014530	biolink:AnatomicalEntity	white matter lamina of neuraxis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014530		
UBERON:0014531	biolink:AnatomicalEntity	white matter lamina of diencephalon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014531		
UBERON:0014532	biolink:AnatomicalEntity	white matter lamina of cerebral hemisphere			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014532		
CHEBI:35106	biolink:ChemicalSubstance	nitrogen hydride			mondo.json	nitrogen hydrides	http://purl.obolibrary.org/obo/CHEBI_35106		
CHEBI:35107	biolink:ChemicalSubstance	azane	Saturated acyclic nitrogen hydrides having the general formula NnHn+2.		mondo.json	azanes	http://purl.obolibrary.org/obo/CHEBI_35107		
CHR:9606-chr7p22.1	biolink:NamedThing	7p22.1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr7p22.1		
UBERON:0002553	biolink:AnatomicalEntity	anatomical cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002553		
UBERON:0002537	biolink:AnatomicalEntity	hermaphrodite gonad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002537		
UBERON:0002539	biolink:AnatomicalEntity	pharyngeal arch			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002539		
PATO:0000587	biolink:NamedThing	decreased size	A size quality which is relatively low.		mondo.json	reduced|underdeveloped|small|hypoplasia|tiny	http://purl.obolibrary.org/obo/PATO_0000587		
PATO:0000586	biolink:NamedThing	increased size	A size quality which is relatively high.		mondo.json	great|large|expanded|enlarged|big	http://purl.obolibrary.org/obo/PATO_0000586		
GO:0046545	biolink:NamedThing	development of primary female sexual characteristics	The process whose specific outcome is the progression of the primary female sexual characteristics over time, from their formation to the mature structure. The primary female sexual characteristics are the ovaries, and they develop in response to sex hormone secretion.		mondo.json		http://purl.obolibrary.org/obo/GO_0046545		
PATO:0000588	biolink:NamedThing	vestigial	A quality inhering in a bearer by virtue of the bearer's being a remnant structure from earlier development or evolution.		mondo.json		http://purl.obolibrary.org/obo/PATO_0000588		
CHEBI:60164	biolink:ChemicalSubstance	ionic polymer	An ionic polymer is a polymer, composed of ionic macromolecules.		mondo.json	polyionic polymer	http://purl.obolibrary.org/obo/CHEBI_60164		
GO:0046541	biolink:NamedThing	saliva secretion	The regulated release of saliva from the salivary glands. In man, the saliva is a turbid and slightly viscous fluid, generally of an alkaline reaction, and is secreted by the parotid, submaxillary, and sublingual glands. In the mouth the saliva is mixed with the secretion from the buccal glands. In man and many animals, saliva is an important digestive fluid on account of the presence of the peculiar enzyme, ptyalin.		mondo.json	salivation	http://purl.obolibrary.org/obo/GO_0046541		
CHEBI:84124	biolink:ChemicalSubstance	D-tyrosine derivative	A non-proteinogenic amino acid derivative resulting from reaction of D-tyrosine at the amino group or the carboxy group, or from the replacement of any hydrogen of D-tyrosine by a heteroatom.		mondo.json	D-tyrosine derivatives	http://purl.obolibrary.org/obo/CHEBI_84124		
HGNC:9208	biolink:NamedThing	POR			mondo.json		http://identifiers.org/hgnc/9208		
HP:0031247	biolink:PhenotypicFeature	Whooping cough	A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air.		mondo.json		http://purl.obolibrary.org/obo/HP_0031247		
CHEBI:37734	biolink:ChemicalSubstance	phosphoric ester			mondo.json		http://purl.obolibrary.org/obo/CHEBI_37734		
UBERON:0002544	biolink:AnatomicalEntity	digit			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002544		
UBERON:0002546	biolink:AnatomicalEntity	cranial placode			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002546		
HGNC:9204	biolink:NamedThing	PON1			mondo.json		http://identifiers.org/hgnc/9204		
HGNC:9201	biolink:NamedThing	POMC			mondo.json		http://identifiers.org/hgnc/9201		
HGNC:9202	biolink:NamedThing	POMT1			mondo.json		http://identifiers.org/hgnc/9202		
UBERON:0002529	biolink:AnatomicalEntity	limb segment			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002529		
UBERON:0002528	biolink:AnatomicalEntity	sacral lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002528		
UBERON:0002527	biolink:AnatomicalEntity	pancreatic lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002527		
HGNC:9217	biolink:NamedThing	POU3F4			mondo.json		http://identifiers.org/hgnc/9217		
HP:0031258	biolink:PhenotypicFeature	Delirium	A state of sudden and severe confusion.		mondo.json		http://purl.obolibrary.org/obo/HP_0031258		
UBERON:0014505	biolink:AnatomicalEntity	proximal phalanx of digit 5			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014505		
HGNC:9210	biolink:NamedThing	POU1F1			mondo.json		http://identifiers.org/hgnc/9210		
UBERON:0002533	biolink:AnatomicalEntity	post-anal tail bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002533		
UBERON:0002532	biolink:AnatomicalEntity	epiblast (generic)			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002532		
UBERON:0002530	biolink:AnatomicalEntity	gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002530		
MONDO:0015090	biolink:Disease	autosomal recessive pure spastic paraplegia	Autosomal recessive form of pure hereditary spastic paraplegia.	UMLS:CN228910|Orphanet:100982	mondo.json	autosomal recessive uncomplicated spastic paraplegia|autosomal recessive uncomplicated HSP|pure hereditary spastic paraplegia, autosomal recessive|autosomal recessive pure SPG|autosomal recessive pure HSP|autosomal recessive uncomplicated SPG|autosomal recessive pure hereditary spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0015090	Orphanet:100982|UMLS:CN228910	ordo_group_of_disorders|disease_grouping
MONDO:0015094	biolink:Disease	subependymal nodular heterotopia		ICD9:742.4|GARD:0005050|MedDRA:10071150|SCTID:699812002|UMLS:C3160906|Orphanet:101030	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015094	http://identifiers.org/snomedct/699812002|Orphanet:101030|UMLS:C3160906	gard_rare|ordo_clinical_subtype
MONDO:0015093	biolink:Disease	sub-cortical nodular heterotopia		Orphanet:101029	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015093	Orphanet:101029	ordo_clinical_subtype
MONDO:0015092	biolink:Disease	cleft hard palate		SCTID:448915004|Orphanet:101023|ICD10CM:Q35.1	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015092	http://identifiers.org/snomedct/448915004|http://purl.bioontology.org/ontology/ICD10CM/Q35.1|Orphanet:101023	ordo_morphological_anomaly
MONDO:0015091	biolink:Disease	autosomal dominant spastic paraplegia type 9	Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.	GARD:0009583|Orphanet:100990	mondo.json	bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy|spastic paraplegia 9|spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome|autosomal dominant spastic paraparesis|cataracts, motor neuronopathy, short stature and skeletal abnormalities|SPG9|autosomal dominant complex spastic paraplegia caused by mutation in ALDH18A1|cataracts-motor neuropathy-short stature-skeletal anomalies syndrome|ALDH18A1 autosomal dominant complex spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0015091	Orphanet:100990	ordo_disease
HP:0008873	biolink:PhenotypicFeature	Disproportionate short-limb short stature	A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.	UMLS:C1849937	mondo.json	Dwarfism, short-limbed|Micromelic dwarfism|Brachymelic dwarfism|Short-limbed dwarfism|Short stature, disproportionate short-limb|Disproportionate short limb dwarfism|Short limb dwarfism, disproportionate|Short-limb dwarfism|Short limb dwarfism|Short stature, disproportionate short limb	http://purl.obolibrary.org/obo/HP_0008873		hposlim_core
MONDO:0015098	biolink:Disease	obsolete situs inversus totalis			mondo.json	obsolete situs inversus totalis (disease)	http://purl.obolibrary.org/obo/MONDO_0015098		
MONDO:0015097	biolink:Disease	aortic valve dysplasia		ICD9:746.89|Orphanet:101043|SCTID:253604004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015097	http://identifiers.org/snomedct/253604004|Orphanet:101043	ordo_clinical_subtype
MONDO:0015096	biolink:Disease	familial hypofibrinogenemia	Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration.	Orphanet:101041|GARD:0002887|UMLS:CN197419	mondo.json	hypofibrinogenemia, familial	http://purl.obolibrary.org/obo/MONDO_0015096	Orphanet:101041|UMLS:CN197419	gard_rare|ordo_clinical_subtype
MONDO:0015095	biolink:Disease	Peters anomaly-cataract syndrome		UMLS:C2931652|MESH:C537885|Orphanet:101033	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015095	http://identifiers.org/mesh/C537885|Orphanet:101033|UMLS:C2931652	ordo_clinical_subtype
MONDO:0015099	biolink:Disease	unilateral hemispheric polymicrogyria		Orphanet:101071	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015099	Orphanet:101071	ordo_clinical_subtype
OBO:MF#manifestationOf	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/MF#manifestationOf		
MONDO:0015083	biolink:Disease	nuclear oculomotor paralysis		Orphanet:100932	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015083	Orphanet:100932	disease_grouping|ordo_group_of_disorders
MONDO:0015082	biolink:Disease	alopecia antibody deficiency		Orphanet:1006	mondo.json	IPP-Gelfand syndrome	http://purl.obolibrary.org/obo/MONDO_0015082	Orphanet:1006	ordo_disease
MONDO:0015081	biolink:Disease	obsolete neuroendocrine tumor with other location		UMLS:CN197376|Orphanet:100101	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015081	Orphanet:100101|UMLS:CN197376	ordo_group_of_disorders
MONDO:0015080	biolink:Disease	obsolete thymic tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015080		
MONDO:0027069	biolink:Disease	mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1		OMIM:500015|DOID:0111748	mondo.json	MC5DM1|mitochondrial complex V (ATP synthase) deficiency, mitochondrial type 1	http://purl.obolibrary.org/obo/MONDO_0027069	https://omim.org/entry/500015|DOID:0111748	
MONDO:0027068	biolink:Disease	mitochondrial complex 1 deficiency, mitochondrial type 1	Any mitochondrial complex 1 deficiency, mitochondrial type 1, in which the cause of the disease is a mutation in the MTND3 gene.	OMIM:500014	mondo.json	mitochondrial complex I deficiency, mitochondrial type 1|MC1DM1	http://purl.obolibrary.org/obo/MONDO_0027068	https://omim.org/entry/500014	
MONDO:0054691	biolink:Disease	immunodeficiency, common variable, 14		UMLS:C4540380|OMIM:617765	mondo.json	immunodeficiency, common variable, 14|immunodeficiency, COMMON variable, 14|CVID14	http://purl.obolibrary.org/obo/MONDO_0054691	https://omim.org/entry/617765|UMLS:C4540380	
CHEBI:59174	biolink:ChemicalSubstance	hapten	Any substance capable of eliciting an immune response only when attached to a large carrier such as a protein. Examples include dinitrophenols; oligosaccharides; peptides; and heavy metals.		mondo.json	haptens	http://purl.obolibrary.org/obo/CHEBI_59174		
OBO:ECTO_0000481	biolink:NamedThing	exposure to transition element	An exposure to transition element molecular entity.		mondo.json	exposure to transition element molecular entity	http://purl.obolibrary.org/obo/ECTO_0000481		
MONDO:0015087	biolink:Disease	autosomal dominant complex spastic paraplegia	Autosomal dominant form of complex hereditary spastic paraplegia.	UMLS:CN226593|Orphanet:100979	mondo.json	autosomal dominant complicated HSP|autosomal dominant complex SPG|autosomal dominant complex hereditary spastic paraplegia|autosomal dominant complicated spastic paraplegia|autosomal dominant complex HSP|complex hereditary spastic paraplegia, autosomal dominant|autosomal dominant complicated SPG	http://purl.obolibrary.org/obo/MONDO_0015087	Orphanet:100979|UMLS:CN226593	ordo_group_of_disorders|disease_grouping
MONDO:0054695	biolink:Disease	myopathy, centronuclear, 6, with fiber-type disproportion		UMLS:C4540345|OMIM:617760|DOID:0111221	mondo.json	myopathy, centronuclear, 6, with fiber-type disproportion|myopathy, centronuclear, 6, with FIBER-type disproportion|centronuclear myopathy 6 with fiber-type disproportion|CNM6	http://purl.obolibrary.org/obo/MONDO_0054695	DOID:0111221|https://omim.org/entry/617760|UMLS:C4540345	
MONDO:0015086	biolink:Disease	cloverleaf skull-asphyxiating thoracic dysplasia syndrome		GARD:0000853|UMLS:CN197384|Orphanet:100978	mondo.json	Benallegue-Lacete syndrome|Benallegue Lacete syndrome|cloverleaf skull and asphyxiating thoracic dysplasia	http://purl.obolibrary.org/obo/MONDO_0015086	UMLS:CN197384|Orphanet:100978	gard_rare|ordo_malformation_syndrome
MONDO:0015085	biolink:Disease	bathing suit ichthyosis	Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body.	SCTID:725588002|Orphanet:100976|OMIM:242300|UMLS:C4511230	mondo.json	BSI	http://purl.obolibrary.org/obo/MONDO_0015085	Orphanet:100976|http://identifiers.org/snomedct/725588002|UMLS:C4511230	ordo_disease
OBO:ECTO_0000485	biolink:NamedThing	exposure to chemical with biological effect	An exposure to biological role.		mondo.json	exposure to biological role	http://purl.obolibrary.org/obo/ECTO_0000485		
MONDO:0015084	biolink:Disease	FRAXF syndrome	FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.	Orphanet:100974|SCTID:716708005|UMLS:C4274329|UMLS:CN197382	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015084	UMLS:CN197382|UMLS:C4274329|Orphanet:100974|http://identifiers.org/snomedct/716708005	ordo_disease
MONDO:0054699	biolink:Disease	proteasome-associated autoinflammatory syndrome 3		OMIM:617591	mondo.json	proteasome-associated autoinflammatory syndrome 3, digenic|proteasome-associated autoinflammatory syndrome 3 and digenic forms|PRAAS3|proteasome-associated autoinflammatory syndrome 3	http://purl.obolibrary.org/obo/MONDO_0054699	https://omim.org/entry/617591	
OBO:ECTO_0000487	biolink:NamedThing	exposure to chemical with chemical role	An exposure to chemical role.		mondo.json	exposure to chemical role	http://purl.obolibrary.org/obo/ECTO_0000487		
MONDO:0054698	biolink:Disease	proteasome-associated autoinflammatory syndrome 1		OMIM:256040	mondo.json	autoinflammation, lipodystrophy, and dermatosis syndrome|proteasome-associated autoinflammatory syndrome 1|chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|JMP syndrome|joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy|Nakajo-Nishimura syndrome|PRAAS1|proteasome-associated autoinflammatory syndrome 1, digenic|proteasome-associated autoinflammatory syndrome 1 and digenic forms	http://purl.obolibrary.org/obo/MONDO_0054698	https://omim.org/entry/256040	
OBO:ECTO_0000486	biolink:NamedThing	exposure to chemical with application	An exposure to application.		mondo.json	exposure to application	http://purl.obolibrary.org/obo/ECTO_0000486		
MONDO:0054697	biolink:Disease	immunodeficiency 11b with atopic dermatitis		OMIM:617638|UMLS:C4539957	mondo.json	atopic dermatitis, elevated IgE, and eosinophilia|IMD11B|immunodeficiency 11B with ATOPIC dermatitis	http://purl.obolibrary.org/obo/MONDO_0054697	https://omim.org/entry/617638|UMLS:C4539957	
MONDO:0015089	biolink:Disease	autosomal recessive complex spastic paraplegia	Autosomal recessive form of complex hereditary spastic paraplegia.	UMLS:CN228909|Orphanet:100981	mondo.json	autosomal recessive complex SPG|complex hereditary spastic paraplegia, autosomal recessive|autosomal recessive complex HSP|autosomal recessive complicated SPG|autosomal recessive complex hereditary spastic paraplegia|autosomal recessive complicated HSP|autosomal recessive complicated spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0015089	Orphanet:100981|UMLS:CN228909	ordo_group_of_disorders|disease_grouping
MONDO:0015088	biolink:Disease	autosomal dominant pure spastic paraplegia	Autosomal dominant form of pure hereditary spastic paraplegia.	UMLS:CN226594|Orphanet:100980	mondo.json	autosomal dominant pure HSP|autosomal dominant uncomplicated HSP|pure hereditary spastic paraplegia, autosomal dominant|autosomal dominant pure hereditary spastic paraplegia|autosomal dominant uncomplicated spastic paraplegia|autosomal dominant pure SPG|autosomal dominant uncomplicated SPG	http://purl.obolibrary.org/obo/MONDO_0015088	Orphanet:100980|UMLS:CN226594	ordo_group_of_disorders|disease_grouping
MONDO:0054696	biolink:Disease	immunodeficiency 53		OMIM:617585|UMLS:C4539811	mondo.json	IMD53|immunodeficiency 53	http://purl.obolibrary.org/obo/MONDO_0054696	https://omim.org/entry/617585|UMLS:C4539811	
MONDO:0015072	biolink:Disease	liver neuroendocrine carcinoma	An extremely rare, aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver.	NCIT:C96787|Orphanet:100085|UMLS:C3273031|UMLS:CN197365|SCTID:716652006	mondo.json	liver neuroendocrine cancer|liver neuroendocrine carcinoma|hepatic neuroendocrine carcinoma|primary hepatic neuroendocrine carcinoma|PHNEC|HNEC|neuroendocrine carcinoma of liver|primary liver neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0015072	UMLS:CN197365|Orphanet:100085|NCIT:C96787|UMLS:C3273031|http://identifiers.org/snomedct/716652006	ordo_disease
MONDO:0015071	biolink:Disease	middle ear neuroendocrine tumor	A neuroendocrine neoplasm that involves the middle ear.	Orphanet:100084|UMLS:CN197364|UMLS:C4305468|SCTID:717918002	mondo.json	neuroendocrine tumor of middle ear|middle ear neuroendocrine neoplasm|middle ear NET|middle ear neuroendocrine tumor|neuroendocrine neoplasm of middle ear|middle ear neuroendocrine tumor, well differentiated, low or intermediate grade	http://purl.obolibrary.org/obo/MONDO_0015071	UMLS:CN197364|Orphanet:100084|UMLS:C4305468|http://identifiers.org/snomedct/717918002	ordo_disease
MONDO:0015070	biolink:Disease	laryngeal neuroendocrine neoplasm	A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma.	Orphanet:100083|NCIT:C6023|DOID:5457|UMLS:C1334374|SCTID:707625001	mondo.json	larynx neuroendocrine tumor|neuroendocrine neoplasm of larynx|neuroendocrine neoplasm of the larynx|larynx neuroendocrine neoplasm|larynx neuroendocrine tumor, well differentiated, low or intermediate grade|laryngeal neuroendocrine tumor|laryngeal neuroendocrine neoplasm|neuroendocrine tumor of larynx|larynx NET	http://purl.obolibrary.org/obo/MONDO_0015070	Orphanet:100083|http://identifiers.org/snomedct/707625001|UMLS:C1334374|DOID:5457|NCIT:C6023	ordo_disease
MONDO:0003087	biolink:Disease	mucoepidermoid breast carcinoma	A carcinoma of the breast characterized by pools of mucin and islands of malignant squamous cells. Mucoepidermoid carcinomas of the breast are extremely rare.	NCIT:C5166|DOID:4679|UMLS:C1334813	mondo.json	breast mucoepidermoid carcinoma|mucoepidermoid carcinoma of breast|mucoepidermoid carcinoma of the breast|mucoepidermoid breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0003087	NCIT:C5166|UMLS:C1334813|DOID:4679	
MONDO:0003088	biolink:Disease	intramuscular hemangioma	A hemangioma arising from skeletal muscle.	DOID:468|UMLS:C0205789|ICDO:9132/0|NCIT:C3699	mondo.json	intramuscular hemangioma (morphologic abnormality)|intramuscular angioma	http://purl.obolibrary.org/obo/MONDO_0003088	UMLS:C0205789|NCIT:C3699|DOID:468	
MONDO:0003089	biolink:Disease	extrahepatic bile duct mucoepidermoid carcinoma	A mucoepidermoid carcinoma that arises from the extrahepatic bile ducts.	DOID:4681|UMLS:C1332552|NCIT:C5862	mondo.json	extrahepatic bile duct mucoepidermoid carcinoma|mucoepidermoid carcinoma of the bile duct|bile duct mucoepidermoid carcinoma|mucoepidermoid carcinoma of bile duct	http://purl.obolibrary.org/obo/MONDO_0003089	NCIT:C5862|UMLS:C1332552|DOID:4681	
MONDO:0003083	biolink:Disease	venous hemangioma	A rare slow growing benign tumor of aberrant and ectatic venous connections.	UMLS:C0334532|SCTID:403968005|ICD9:228.09|NCIT:C4296|ICDO:9122/0|DOID:467	mondo.json	Venous malformation|Venous angioma	http://purl.obolibrary.org/obo/MONDO_0003083	http://identifiers.org/snomedct/403968005|NCIT:C4296|UMLS:C0334532|DOID:467	
MONDO:0003084	biolink:Disease	uremic neuropathy	Neuropathy resulting from uremia.	ICD9:357.4|SCTID:11659006|NCIT:C27055|DOID:4675|UMLS:C0268708	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003084	UMLS:C0268708|http://identifiers.org/snomedct/11659006|DOID:4675|NCIT:C27055	
MONDO:0003085	biolink:Disease	keratitis	A corneal disease that is characterized by inflammation of the cornea.	UMLS:C0022568|MESH:D007634|ICD10CM:H16|SCTID:5888003|ICD9:370.8|DOID:4677|ICD9:370.9|NCIT:C26805|ICD9:370	mondo.json	cornea inflammation|inflammation of cornea	http://purl.obolibrary.org/obo/MONDO_0003085	UMLS:C0022568|NCIT:C26805|http://identifiers.org/snomedct/5888003|DOID:4677|http://purl.bioontology.org/ontology/ICD10CM/H16|http://identifiers.org/mesh/D007634	
MONDO:0003086	biolink:Disease	thymic mucoepidermoid carcinoma	A rare primary thymic carcinoma, characterized by the presence of squamous cells, intermediate type cells, and mucus-producing cells. Published information on clinical course is limited to single-case reports.	NCIT:C6457|DOID:4678|UMLS:C1334814	mondo.json	mucoepidermoid carcinoma of Thymus|thymic mucoepidermoid carcinoma|mucoepidermoid carcinoma of the Thymus|Thymus mucoepidermoid carcinoma|thymus mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0003086	NCIT:C6457|UMLS:C1334814|DOID:4678	
MONDO:0003080	biolink:Disease	obsolete indolent systemic mastocytosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003080		
MONDO:0003081	biolink:Disease	thalamic disorder	A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma.	MESH:D013786|NCIT:C85186|UMLS:C0039726|DOID:4662	mondo.json	dorsal plus ventral thalamus disease or disorder|disorder of dorsal plus ventral thalamus|disease of dorsal plus ventral thalamus|disease or disorder of dorsal plus ventral thalamus|dorsal plus ventral thalamus disease	http://purl.obolibrary.org/obo/MONDO_0003081	UMLS:C0039726|http://identifiers.org/mesh/D013786|DOID:4662|NCIT:C85186	
MONDO:0003082	biolink:Disease	filamentary keratitis		SCTID:51286002|UMLS:C0155077|ICD9:370.23|DOID:4664	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003082	http://identifiers.org/snomedct/51286002|DOID:4664|UMLS:C0155077	
CHEBI:59163	biolink:ChemicalSubstance	biomarker	A substance used as an indicator  of a biological state.		mondo.json	biological marker	http://purl.obolibrary.org/obo/CHEBI_59163		
MONDO:0015076	biolink:Disease	obsolete rare parathyroid tumor	OBSOLETE. Any of the forms of tumor of parathyroid gland that have a rare incidence.	Orphanet:100090|ICD10CM:D35.1	mondo.json	rare tumor of parathyroid gland	http://purl.obolibrary.org/obo/MONDO_0015076	Orphanet:100090	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0015075	biolink:Disease	thyroid gland carcinoma	A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic.	MedDRA:10007476|SCTID:448216007|HP:0002890|NCIT:C4815|EFO:1000586|UMLS:C0549473|DOID:3963|Orphanet:100088	mondo.json	cancer of the thyroid|cancer of thyroid|carcinoma of the thyroid gland|thyroid cancer|carcinoma of the thyroid|thyroid gland cancer|head and neck cancer, thyroid|carcinoma of thyroid gland|carcinoma of thyroid|thyroid carcinoma|thyroid gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0015075	DOID:3963|Orphanet:100088|NCIT:C4815|http://identifiers.org/snomedct/448216007|UMLS:C0549473	ordo_group_of_disorders|disease_grouping
MONDO:0015074	biolink:Disease	thyroid tumor	A benign or malignant neoplasm affecting the thyroid gland.	NCIT:C3414|ONCOTREE:THYROID|SCTID:127018007|EFO:0003841|ICD9:239.7|Orphanet:100087	mondo.json	tumor of the thyroid|tumor of thyroid|tumor of thyroid gland|neoplasm of the thyroid gland|neoplasm of the thyroid|neoplasm of thyroid|thyroid tumor|thyroid gland neoplasm (disease)|thyroid neoplasm|THYROID|neoplasm of thyroid gland|thyroid neoplasms|thyroid gland neoplasm|tumor of the thyroid gland|thyroid gland tumor	http://purl.obolibrary.org/obo/MONDO_0015074	Orphanet:100087|http://identifiers.org/snomedct/127018007|NCIT:C3414	ordo_group_of_disorders|disease_grouping
MONDO:0015073	biolink:Disease	gallbladder neuroendocrine tumor, grade 1/2	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the gallbladder.	Orphanet:100086|NCIT:C96918|UMLS:CN197366|UMLS:C3273116	mondo.json	gallbladder well differentiated endocrine tumor|gallbladder well differentiated endocrine tumor/carcinoma|gallbladder neuroendocrine tumor|gallbladder NET	http://purl.obolibrary.org/obo/MONDO_0015073	UMLS:CN197366|Orphanet:100086|UMLS:C3273116|NCIT:C96918	ordo_disease
MONDO:0015079	biolink:Disease	multiple polyglandular tumor		ICD10WHO:D44.8|Orphanet:100094|UMLS:CN197373	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015079	UMLS:CN197373|Orphanet:100094|https://icd.who.int/browse10/2019/en#/D44.8	ordo_group_of_disorders|disease_grouping
MONDO:0015078	biolink:Disease	obsolete gastroenteropancreatic neuroendocrine neoplasm			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015078		
MONDO:0015077	biolink:Disease	adrenal/paraganglial tumor		Orphanet:100091|UMLS:CN197370	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015077	UMLS:CN197370|Orphanet:100091	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0015061	biolink:Disease	neurogenic thoracic outlet syndrome	Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS.	UMLS:C0751549|Orphanet:100073|SCTID:2040007	mondo.json	neurogenic TOS|neurogenic thoracic outlet compression syndrome|neurogenic costoclavicular syndrome|NTOS|neurogenic cervical rib syndrome	http://purl.obolibrary.org/obo/MONDO_0015061	http://identifiers.org/snomedct/2040007|Orphanet:100073|UMLS:C0751549	ordo_clinical_subtype
MONDO:0015060	biolink:Disease	mosaic trisomy 3	Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.	GARD:0005342|Orphanet:100071|UMLS:CN073992|SCTID:764627005	mondo.json	Mosaic trisomy type 3|trisomy 3 mosaicism|Mosaic trisomy chromosome 3	http://purl.obolibrary.org/obo/MONDO_0015060	Orphanet:100071|http://identifiers.org/snomedct/764627005|UMLS:CN073992	ordo_malformation_syndrome
MONDO:0003098	biolink:Disease	mediastinal neural neoplasm	A neurogenic tumor that arises from the mediastinum. Neural tumors are the most common tumors that arise from the posterior mediastinum. Representative examples include Schwannoma, neurofibroma, and neuroblastoma.	DOID:4691|NCIT:C6624|UMLS:C1334672	mondo.json	malignant mediastinal neurogenic neoplasm|neurogenic neoplasm of the mediastinum|neurogenic tumor of mediastinum|neurogenic neoplasm of mediastinum|mediastinal neural neoplasm|mediastinal neurogenic neoplasm|neurogenic tumor of the mediastinum|mediastinal neurogenic tumor|mediastinal neural tumor	http://purl.obolibrary.org/obo/MONDO_0003098	NCIT:C6624|UMLS:C1334672|DOID:4691	
MONDO:0003099	biolink:Disease	obsolete endophthalmitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003099		
MONDO:0003094	biolink:Disease	obsolete mucoepidermoid thyroid carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003094		
MONDO:0027048	biolink:Disease	deafness, Y-linked 2		DOID:0111758|OMIM:400047	mondo.json	deafness, y-linked 2, y-linked|DFNY2	http://purl.obolibrary.org/obo/MONDO_0027048	DOID:0111758|https://omim.org/entry/400047	
MONDO:0003095	biolink:Disease	laryngeal mucoepidermoid carcinoma	A rare mucoepidermoid carcinoma of the larynx. It usually arises from the supraglottic area. Hoarseness and dysphagia are the presenting symptoms.	NCIT:C9463|DOID:4688|UMLS:C1334373	mondo.json	laryngeal mucoepidermoid carcinoma|laryngeal throat mucoepidermoid cancer|mucoepidermoid carcinoma of larynx|mucoepidermoid carcinoma of the larynx|larynx mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0003095	UMLS:C1334373|NCIT:C9463|DOID:4688	
MONDO:0003096	biolink:Disease	deep hemangioma	A hemangioma arising from the deep soft tissues.	NCIT:C6555|DOID:469|UMLS:C1333265	mondo.json	deep angioma|deep hemangioma	http://purl.obolibrary.org/obo/MONDO_0003096	UMLS:C1333265|DOID:469|NCIT:C6555	
MONDO:0003097	biolink:Disease	childhood mediastinal neurogenic neoplasm		DOID:4690|NCIT:C5429|UMLS:C1332981	mondo.json	childhood mediastinal neurogenic neoplasm|childhood neurogenic tumor of the mediastinum|pediatric neurogenic neoplasm of the mediastinum|childhood neurogenic tumor of mediastinum|pediatric neurogenic neoplasm of mediastinum|childhood mediastinal neurogenic tumor|pediatric neurogenic tumor of mediastinum|pediatric mediastinal neurogenic neoplasm|pediatric neurogenic tumor of the mediastinum|pediatric mediastinal neurogenic tumor|childhood neurogenic neoplasm of the mediastinum|childhood neurogenic neoplasm of mediastinum	http://purl.obolibrary.org/obo/MONDO_0003097	NCIT:C5429|UMLS:C1332981|DOID:4690	
MONDO:0003090	biolink:Disease	extrahepatic bile duct carcinoma	A carcinoma that arises from epithelial cells of the extrahepatic bile duct.	UMLS:C0238019|NCIT:C3860|SCTID:372101000|DOID:4682	mondo.json	carcinoma of extrahepatic bile duct|carcinoma of the extrahepatic bile duct|extrahepatic bile duct carcinoma|extrahepatic bile duct cancer	http://purl.obolibrary.org/obo/MONDO_0003090	UMLS:C0238019|http://identifiers.org/snomedct/372101000|NCIT:C3860|DOID:4682	
MONDO:0003091	biolink:Disease	cutaneous mucoepidermoid carcinoma	A mucoepidermoid carcinoma that involves the zone of skin.	UMLS:C0346019|NCIT:C4472|DOID:4683|SCTID:254713002	mondo.json	zone of skin mucoepidermoid carcinoma|mucoepidermoid skin carcinoma	http://purl.obolibrary.org/obo/MONDO_0003091	UMLS:C0346019|NCIT:C4472|http://identifiers.org/snomedct/254713002|DOID:4683	
MONDO:0003092	biolink:Disease	lacrimal gland mucoepidermoid carcinoma	An extremely rare carcinoma that arises from the lacrimal gland. It is characterized by the presence of infiltrating nests of epidermoid cells and mucus producing cells.	UMLS:C1334359|NCIT:C6091|DOID:4685	mondo.json	mucoepidermoid carcinoma of lacrimal gland|mucoepidermoid carcinoma of the lacrimal gland|lacrimal gland mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0003092	UMLS:C1334359|DOID:4685|NCIT:C6091	
MONDO:0003093	biolink:Disease	mucoepidermoid esophageal carcinoma	A rare carcinoma of the esophagus which contains squamous cells, mucus secreting cells, and cells of an intermediate type. (WHO)	NCIT:C5343|UMLS:C1333461|DOID:4686	mondo.json	mucoepidermoid carcinoma of the esophagus|esophagus mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0003093	UMLS:C1333461|DOID:4686|NCIT:C5343	
NCBITaxon:117571	biolink:OrganismalEntity	Euteleostomi		GC_ID:1	mondo.json	bony vertebrates	http://purl.obolibrary.org/obo/NCBITaxon_117571		
NCBITaxon:117570	biolink:OrganismalEntity	Teleostomi		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_117570		
MONDO:0015065	biolink:Disease	ileal neuroendocrine tumor, well differentiated, low or intermediate grade	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the ileum.	Orphanet:100078|NCIT:C135092|UMLS:CN197358	mondo.json	ileal neuroendocrine neoplasm|ileal neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0015065	UMLS:CN197358|Orphanet:100078|NCIT:C135092	ordo_disease
MONDO:0015064	biolink:Disease	jejunal neuroendocrine tumor, well differentiated, low or intermediate grade	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the jejunum.	Orphanet:100077|NCIT:C135090|UMLS:CN197357	mondo.json	jejunal neuroendocrine tumor|jejunal neuroendocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0015064	UMLS:CN197357|Orphanet:100077|NCIT:C135090	ordo_disease
MONDO:0015063	biolink:Disease	duodenal neuroendocrine tumor, well differentiated, low or intermediate grade	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the duodenum.	Orphanet:100076|UMLS:CN197356|NCIT:C135080	mondo.json	duodenal neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0015063	UMLS:CN197356|Orphanet:100076|NCIT:C135080	ordo_group_of_disorders|disease_grouping
MONDO:0015062	biolink:Disease	gastric neuroendocrine tumor, well differentiated, low or intermediate grade	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the stomach.	NCIT:C95871|ONCOTREE:SWDNET|UMLS:CN197355|UMLS:C3272399	mondo.json	well-differentiated neuroendocrine tumors of the stomach|gastric well differentiated endocrine tumor/carcinoma|gastric well differentiated endocrine tumor|gastric neuroendocrine tumor|gastric NET|GNET|gastric NET G1/2	http://purl.obolibrary.org/obo/MONDO_0015062	UMLS:CN197355|NCIT:C95871|UMLS:C3272399	ordo_disease
MONDO:0015069	biolink:Disease	neuroendocrine tumor of the anal canal	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the anal canal.	Orphanet:100082|NCIT:C96540|UMLS:CN197362	mondo.json	NET of anal canal|neuroendocrine tumor of anal canal|NET of the anal canal|anal canal well differentiated tumor|anal canal well differentiated tumor/carcinoma|anal NET|anal canal NET|neuroendocrine neoplasm of the anal canal|anal canal neuroendocrine tumor|anal canal neuroendocrine neoplasm|anal Neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0015069	UMLS:CN197362|Orphanet:100082|NCIT:C96540	ordo_disease
MONDO:0015068	biolink:Disease	neuroendocrine tumor of rectum, well differentiated, low or intermediate grade	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the rectum.	NCIT:C135213|UMLS:CN197361	mondo.json	rectal neuroendocrine tumor|neuroendocrine tumor of the rectum	http://purl.obolibrary.org/obo/MONDO_0015068	UMLS:CN197361|NCIT:C135213	ordo_disease
MONDO:0015067	biolink:Disease	neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the colon.	NCIT:C135212	mondo.json	colonic NET|carcinoid tumor of colon|NET of the colon|colon neuroendocrine tumor|neuroendocrine neoplasm of the colon	http://purl.obolibrary.org/obo/MONDO_0015067	NCIT:C135212	ordo_disease
MONDO:0015066	biolink:Disease	neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the appendix.	NCIT:C96422|ONCOTREE:AWDNET|SCTID:725167001|Orphanet:100079	mondo.json	appendix well differentiated endocrine tumor|appendix well differentiated endocrine tumor/carcinoma|appendix neuroendocrine tumor|appendix NET|NEN of appendix|appendiceal neuroendocrine tumor|appendiceal NEN|neuroendocrine neoplasm of appendix|appendiceal neuroendocrine neoplasm|well-differentiated neuroendocrine tumor of the appendix	http://purl.obolibrary.org/obo/MONDO_0015066	Orphanet:100079|NCIT:C96422|http://identifiers.org/snomedct/725167001	ordo_disease
MONDO:0030689	biolink:Disease	Charcot-Marie-Tooth disease, demyelinating, IIA 1H		OMIM:619764	mondo.json	CMT1H|Charcot-Marie-Tooth disease, demyelinating, IIA 1H|hereditary motor and sensory neuropathy, 1h|neuropathy, hereditary, with or without age-related macular degeneration|Charcot-Marie-Tooth neuropathy, IIA 1H	http://purl.obolibrary.org/obo/MONDO_0030689	https://omim.org/entry/619764	
GO:0009581	biolink:NamedThing	detection of external stimulus	The series of events in which an external stimulus is received by a cell and converted into a molecular signal.		mondo.json	perception of external stimulus	http://purl.obolibrary.org/obo/GO_0009581		
GO:0009582	biolink:NamedThing	detection of abiotic stimulus	The series of events in which an (non-living) abiotic stimulus is received by a cell and converted into a molecular signal.		mondo.json	perception of abiotic stimulus	http://purl.obolibrary.org/obo/GO_0009582		
GO:0010561	biolink:NamedThing	negative regulation of glycoprotein biosynthetic process	Any process that decreases the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide.		mondo.json		http://purl.obolibrary.org/obo/GO_0010561		
GO:0010562	biolink:NamedThing	positive regulation of phosphorus metabolic process	Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus.		mondo.json		http://purl.obolibrary.org/obo/GO_0010562		
GO:0010560	biolink:NamedThing	positive regulation of glycoprotein biosynthetic process	Any process that increases the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide.		mondo.json		http://purl.obolibrary.org/obo/GO_0010560		
GO:0010565	biolink:NamedThing	regulation of cellular ketone metabolic process	Any process that modulates the chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups.		mondo.json		http://purl.obolibrary.org/obo/GO_0010565		
GO:0010566	biolink:NamedThing	regulation of ketone biosynthetic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of a ketone, carried out by individual cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0010566		
GO:0010563	biolink:NamedThing	negative regulation of phosphorus metabolic process	Any process that decreases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus.		mondo.json		http://purl.obolibrary.org/obo/GO_0010563		
GO:0010564	biolink:NamedThing	regulation of cell cycle process	Any process that modulates a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events.		mondo.json		http://purl.obolibrary.org/obo/GO_0010564		
MONDO:0030695	biolink:Disease	developmental and epileptic encephalopathy 100		OMIM:619777	mondo.json	DEE100|developmental and epileptic encephalopathy 100	http://purl.obolibrary.org/obo/MONDO_0030695	https://omim.org/entry/619777	
MONDO:0030697	biolink:Disease	myopia 28, autosomal recessive		OMIM:619781	mondo.json	myopia 28, autosomal recessive|MYP28	http://purl.obolibrary.org/obo/MONDO_0030697	https://omim.org/entry/619781	
MONDO:0030696	biolink:Disease	mitochondrial DNA depletion syndrome 20 (mngie type)		OMIM:619780	mondo.json	mitochondrial DNA depletion syndrome 20 (mngie type)|MTDPS20|mitochondrial neurogastrointestinal encephalomyopathy syndrome, lig3-related	http://purl.obolibrary.org/obo/MONDO_0030696	https://omim.org/entry/619780	
MONDO:0054666	biolink:Disease	ovarian dysgenesis 5		OMIM:617690|DOID:0080497|UMLS:C4540141	mondo.json	ODG5|ovarian dysgenesis 5	http://purl.obolibrary.org/obo/MONDO_0054666	DOID:0080497|https://omim.org/entry/617690|UMLS:C4540141	
MONDO:0054665	biolink:Disease	pituitary adenoma 3, multiple types		UMLS:C4540135|OMIM:617686	mondo.json	pituitary adenoma 3, multiple types, somatic|PITA3|pituitary adenoma 3, multiple types	http://purl.obolibrary.org/obo/MONDO_0054665	https://omim.org/entry/617686|UMLS:C4540135	
MONDO:0030690	biolink:Disease	pulmonary fibrosis and/or bone marrow failure, telomere-related, 6		OMIM:619767	mondo.json	PFBMFT6|pulmonary fibrosis and/or bone marrow failure, telomere-related, 6	http://purl.obolibrary.org/obo/MONDO_0030690	https://omim.org/entry/619767	
MONDO:0030693	biolink:Disease	immunodeficiency 96	An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair.	OMIM:619774	mondo.json	IMD96|immunodeficiency 96|immunodeficiency, autosomal recessive due to LIG1 deficiency	http://purl.obolibrary.org/obo/MONDO_0030693	https://omim.org/entry/619774	
MONDO:0030692	biolink:Disease	immunodeficiency 95		OMIM:619773	mondo.json	IMD95|immunodeficiency 95	http://purl.obolibrary.org/obo/MONDO_0030692	https://omim.org/entry/619773	
OBO:ECTO_0000439	biolink:NamedThing	exposure to formaldehyde	An exposure to formaldehyde.		mondo.json	exposure to formaldehyde	http://purl.obolibrary.org/obo/ECTO_0000439		
CHEBI:35191	biolink:ChemicalSubstance	triterpene	A C30 terpene.		mondo.json	Triterpen|triterpenes|triterpeno|triterpenos|triterpenes	http://purl.obolibrary.org/obo/CHEBI_35191		
HGNC:30788	biolink:NamedThing	TLE6			mondo.json		http://identifiers.org/hgnc/30788		
CHEBI:35190	biolink:ChemicalSubstance	diterpene	A C20 terpene.		mondo.json	diterpeno|diterpenos|diterpenes|Diterpen|diterpenes	http://purl.obolibrary.org/obo/CHEBI_35190		
NCBITaxon:10508	biolink:OrganismalEntity	Adenoviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_10508		
GO:0009593	biolink:NamedThing	detection of chemical stimulus	The series of events in which a chemical stimulus is received by a cell and converted into a molecular signal.		mondo.json	perception of chemical stimulus|detection of chemical substance|perception of chemical substance|chemoreception|chemoperception	http://purl.obolibrary.org/obo/GO_0009593		
GO:0009583	biolink:NamedThing	detection of light stimulus	The series of events in which a light stimulus (in the form of photons) is received and converted into a molecular signal.		mondo.json	detection of light|perception of light	http://purl.obolibrary.org/obo/GO_0009583		
CHEBI:62732	biolink:ChemicalSubstance	aromatic ester	An ester where the ester linkage is bonded directly to an aromatic system.		mondo.json	aromatic esters	http://purl.obolibrary.org/obo/CHEBI_62732		
GO:0009584	biolink:NamedThing	detection of visible light	The series of events in which a visible light stimulus is received by a cell and converted into a molecular signal. A visible light stimulus is electromagnetic radiation that can be perceived visually by an organism; for organisms lacking a visual system, this can be defined as light with a wavelength within the range 380 to 780 nm.		mondo.json	perception of visible light	http://purl.obolibrary.org/obo/GO_0009584		
CHEBI:35186	biolink:ChemicalSubstance	terpene	A hydrocarbon of biological origin having carbon skeleton formally derived from isoprene [CH2=C(CH3)CH=CH2].		mondo.json	Terpen|terpeno|terpenes|terpene|terpenos|terpenes	http://purl.obolibrary.org/obo/CHEBI_35186		
MONDO:0054654	biolink:Disease	combined oxidative phosphorylation deficiency 32		OMIM:617664|DOID:0111492|UMLS:C4540029	mondo.json	combined oxidative phosphorylation deficiency 32|COXPD32	http://purl.obolibrary.org/obo/MONDO_0054654	https://omim.org/entry/617664|DOID:0111492|UMLS:C4540029	
HGNC:30794	biolink:NamedThing	CEP57			mondo.json		http://identifiers.org/hgnc/30794		
HGNC:30791	biolink:NamedThing	UBIAD1			mondo.json		http://identifiers.org/hgnc/30791		
HGNC:30778	biolink:NamedThing	GATAD2B			mondo.json		http://identifiers.org/hgnc/30778		
MONDO:0027091	biolink:Disease	xanthogranulomatous sialadenitis		GARD:0009739|MESH:C536763	mondo.json	xanthogranulomatous salivary gland disease|sialadenitis, xanthogranulomatous	http://purl.obolibrary.org/obo/MONDO_0027091	http://identifiers.org/mesh/C536763	gard_rare
MONDO:0054680	biolink:Disease	epiphyseal dysplasia, multiple, 7		DOID:0070302|OMIM:617719	mondo.json	epiphyseal dysplasia, multiple, 7|multiple epiphyseal dysplasia 7|EDM7	http://purl.obolibrary.org/obo/MONDO_0054680	https://omim.org/entry/617719|DOID:0070302	
MONDO:0054669	biolink:Disease	pontocerebellar hypoplasia, type 11		OMIM:617695|Orphanet:611247	mondo.json	pontocerebellar hypoplasia, type 11|PCH11|Pontocerebellar hypoplasia due to TBC1D23	http://purl.obolibrary.org/obo/MONDO_0054669	Orphanet:611247|https://omim.org/entry/617695	ordo_disorder
GO:0010558	biolink:NamedThing	negative regulation of macromolecule biosynthetic process	Any process that decreases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass.		mondo.json		http://purl.obolibrary.org/obo/GO_0010558		
GO:0010559	biolink:NamedThing	regulation of glycoprotein biosynthetic process	Any process that modulates the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide.		mondo.json		http://purl.obolibrary.org/obo/GO_0010559		
GO:0010556	biolink:NamedThing	regulation of macromolecule biosynthetic process	Any process that modulates the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass.		mondo.json		http://purl.obolibrary.org/obo/GO_0010556		
GO:0010557	biolink:NamedThing	positive regulation of macromolecule biosynthetic process	Any process that increases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass.		mondo.json		http://purl.obolibrary.org/obo/GO_0010557		
HGNC:29796	biolink:NamedThing	LAMTOR2			mondo.json		http://identifiers.org/hgnc/29796		
HP:0033836	biolink:PhenotypicFeature	Abnormal intrarenal artery morphology	An anomalous structure of an artery located in the kidney.		mondo.json	Abnormal kidney arterial blood vessel morphology	http://purl.obolibrary.org/obo/HP_0033836		
GO:0009566	biolink:NamedThing	fertilization	The union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy).		mondo.json	syngamy	http://purl.obolibrary.org/obo/GO_0009566		
HP:0033835	biolink:PhenotypicFeature	Abnormal renal vascular morphology	Anomalous structure of a blood vessel in the kidney.		mondo.json		http://purl.obolibrary.org/obo/HP_0033835		
MONDO:0054677	biolink:Disease	combined oxidative phosphorylation deficiency 33		DOID:0111495|OMIM:617713|EFO:0009159|UMLS:C4540209	mondo.json	combined oxidative phosphorylation deficiency 33|COXPD33	http://purl.obolibrary.org/obo/MONDO_0054677	https://omim.org/entry/617713|DOID:0111495|UMLS:C4540209	
MONDO:0054736	biolink:Disease	mosaic variegated aneuploidy syndrome 3		OMIM:617598	mondo.json	MVA3|MOSAIC variegated aneuploidy syndrome 3	http://purl.obolibrary.org/obo/MONDO_0054736	https://omim.org/entry/617598	
HGNC:9180	biolink:NamedThing	POLG2			mondo.json		http://identifiers.org/hgnc/9180		
MONDO:0030768	biolink:Disease	epidermolysis bullosa, junctional 5A, intermediate		OMIM:619816	mondo.json	JEB5A|epidermolysis bullosa, junctional 5A, intermediate|epidermolysis bullosa, junctional 5A, non-herlitz IIA|epidermolysis bullosa, junctional 5A, generalized intermediate	http://purl.obolibrary.org/obo/MONDO_0030768	https://omim.org/entry/619816	
HGNC:9181	biolink:NamedThing	POLH			mondo.json		http://identifiers.org/hgnc/9181		
GO:0071482	biolink:NamedThing	cellular response to light stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light.		mondo.json		http://purl.obolibrary.org/obo/GO_0071482		
MONDO:0054733	biolink:Disease	spermatogenic failure 29		OMIM:618091	mondo.json	spermatogenic failure 29|SPGF29	http://purl.obolibrary.org/obo/MONDO_0054733	https://omim.org/entry/618091	
MONDO:0003146	biolink:Disease	obsolete ependymoblastoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003146		
MONDO:0054739	biolink:Disease	Fraser syndrome 3		DOID:0111406|UMLS:C4540040|OMIM:617667	mondo.json	FRASRS3|Fraser syndrome 3	http://purl.obolibrary.org/obo/MONDO_0054739	https://omim.org/entry/617667|DOID:0111406|UMLS:C4540040	
MONDO:0003147	biolink:Disease	space motion sickness	Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)	MESH:D018489|EFO:1001188|DOID:4796|UMLS:C0242700	mondo.json	Space adaptation syndrome|adaptation syndrome, Space|motion sickness, Space|syndrome, Space adaptation	http://purl.obolibrary.org/obo/MONDO_0003147	UMLS:C0242700|DOID:4796|http://identifiers.org/mesh/D018489	
MONDO:0003148	biolink:Disease	obsolete SM-AHNMD			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003148		
MONDO:0030767	biolink:Disease	obsolete genetic tumor of hematopoietic and lymphoid tissues		Orphanet:322126	mondo.json		http://purl.obolibrary.org/obo/MONDO_0030767	Orphanet:322126	
MONDO:0054738	biolink:Disease	Fraser syndrome 2		DOID:0111407|OMIM:617666|UMLS:C4540036	mondo.json	FRASRS2|Fraser syndrome 2	http://purl.obolibrary.org/obo/MONDO_0054738	DOID:0111407|https://omim.org/entry/617666|UMLS:C4540036	
MONDO:0003149	biolink:Disease	obsolete aggressive systemic mastocytosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003149		
MONDO:0054737	biolink:Disease	Fraser syndrome 1		DOID:0111405|OMIM:219000	mondo.json	cryptophthalmos-syndactyly syndrome|Fraser syndrome 1|cryptophthalmos with Other malformations|FRASRS1|Fraser syndrome	http://purl.obolibrary.org/obo/MONDO_0054737	DOID:0111405|https://omim.org/entry/219000	
MONDO:0003142	biolink:Disease	intracranial primitive neuroectodermal tumor	A primitive neuroectodermal tumor that involves the brain.	NCIT:C5817|DOID:4788|UMLS:C1334246	mondo.json	brain primitive neuroectodermal tumor|intracranial PNET|primitive neuroectodermal tumor of brain|intracranial primitive neuroectodermal tumor|intracranial primitive neuroectodermal neoplasm	http://purl.obolibrary.org/obo/MONDO_0003142	UMLS:C1334246|DOID:4788|NCIT:C5817	
MONDO:0003143	biolink:Disease	angiokeratoma	A vascular lesion in the papillary dermis resulting from ectasia of pre-existing vessels. It is associated with secondary proliferative changes in the overlying epidermis (hyperkeratosis). It can present with widespread lesions (angiokeratoma corporis diffusum, often associated with inborn errors of metabolism) or as a localized lesion (angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma of Mibelli).	UMLS:C0346075|NCIT:C4488|MESH:D000794|CSP:2007-0683|SCTID:254788004|DOID:479|UMLS:C0002985	mondo.json	angiokeratoma of skin|angiokeratoma of the skin|skin angiokeratoma|cutaneous angiokeratoma|angiokeratoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003143	http://identifiers.org/snomedct/254788004|UMLS:C0346075|UMLS:C0002985|DOID:479|http://identifiers.org/mesh/D000794|NCIT:C4488	
MONDO:0003144	biolink:Disease	medulloepithelioma	A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting.	UMLS:C0334596|NCIT:C4327|Orphanet:251883|SCTID:715903004|ONCOTREE:MDEP|DOID:4790	mondo.json	medulloepithelioma NOS (morphologic abnormality)|Diktyoma, malignant|medulloepithelioma, central nervous system|medulloepithelioma of the central nervous system|central nervous system medulloepithelioma|MDEP	http://purl.obolibrary.org/obo/MONDO_0003144	Orphanet:251883|UMLS:C0334596|DOID:4790|NCIT:C4327|http://identifiers.org/snomedct/715903004	ordo_disease
MONDO:0003145	biolink:Disease	supratentorial primitive neuroectodermal tumor	A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region.	GARD:0007366|NCIT:C6968|ICD9:209.30|SCTID:699318007|UMLS:C1336538|DOID:4791	mondo.json	supratent. primitive neuro. tumor|supratentorial primitive neuroectodermal tumor|CNS/supratentorial PNET|supratentorial PNET	http://purl.obolibrary.org/obo/MONDO_0003145	http://identifiers.org/snomedct/699318007|DOID:4791|UMLS:C1336538|NCIT:C6968	
HGNC:29882	biolink:NamedThing	ISCU			mondo.json		http://identifiers.org/hgnc/29882		
MONDO:0003140	biolink:Disease	immune-complex glomerulonephritis	Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function.	UMLS:C0744421|SCTID:123752003|ICD9:583.89|DOID:4784|NCIT:C35800	mondo.json	immune Complex glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0003140	http://identifiers.org/snomedct/123752003|NCIT:C35800|DOID:4784|UMLS:C0744421	
MONDO:0003141	biolink:Disease	cerebellopontine angle embryonal tumor	A central nervous system embryonal tumor, not otherwise specified arising from the cerebellopontine angle of the infratentorial brain.	UMLS:C1332904|DOID:4787|NCIT:C5436	mondo.json	primitive neuroectodermal tumor of C-P angle|cerebellopontine angle primitive neuroectodermal neoplasm|cerebellar Pontine angle primitive neuroectodermal neoplasm|primitive neuroectodermal neoplasm of the C-P angle|C-P angle primitive neuroectodermal neoplasm|primitive neuroectodermal neoplasm of C-P angle|C-P angle primitive neuroectodermal tumor|cerebellopontine angle primitive neuroectodermal|cerebellopontine angle primitive neuroectodermal tumor|cerebellar Pontine angle primitive neuroectodermal tumor|cerebellar Pontine angle PNET|cerebellopontine angle PNET|primitive neuroectodermal neoplasm of cerebellopontine angle|primitive neuroectodermal neoplasm of cerebellar Pontine angle|primitive neuroectodermal neoplasm of the cerebellopontine angle|primitive neuroectodermal neoplasm of the cerebellar Pontine angle|C-P angle PNET|primitive neuroectodermal tumor of cerebellar Pontine angle|primitive neuroectodermal tumor of cerebellopontine angle|primitive neuroectodermal tumor of the cerebellar Pontine angle|primitive neuroectodermal tumor of the cerebellopontine angle|primitive neuroectodermal tumor of the C-P angle	http://purl.obolibrary.org/obo/MONDO_0003141	UMLS:C1332904|DOID:4787|NCIT:C5436	
MONDO:0015139	biolink:Disease	obsolete rare epilepsy	OBSOLETE. Rare epilepsy.	Orphanet:101998|UMLS:CN244924	mondo.json	rare epilepsy	http://purl.obolibrary.org/obo/MONDO_0015139	Orphanet:101998|UMLS:CN244924	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0015138	biolink:Disease	obsolete rare genetic primary immunodeficiency		Orphanet:101997|SCTID:58606001|MedDRA:10064859|UMLS:C0398686	mondo.json	primary immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0015138	http://identifiers.org/snomedct/58606001|Orphanet:101997|UMLS:C0398686	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0015137	biolink:Disease	periodic fever syndrome	Fevers of unknown etiology recurring over months or years.	UMLS:C3889979|UMLS:C0015974|MedDRA:10034533|Orphanet:101995|NCIT:C118240	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015137	Orphanet:101995|NCIT:C118240|UMLS:C3889979|UMLS:C0015974	disease_grouping|ordo_group_of_disorders
MONDO:0015136	biolink:Disease	obsolete immunodeficiency due to a genetic complement cascade protein anomaly		Orphanet:101992	mondo.json	immunodeficiency due to a complement cascade protein anomaly	http://purl.obolibrary.org/obo/MONDO_0015136	Orphanet:101992	ordo_group_of_disorders
MONDO:0017798	biolink:Disease	Spigelian hernia-cryptorchidism syndrome		UMLS:CN203757|Orphanet:314432	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017798	UMLS:CN203757|Orphanet:314432	ordo_malformation_syndrome
MONDO:0017799	biolink:Disease	Meigs syndrome	A rare syndrome affecting females. It is characterized by pleural effusion, ascites and non-malignant ovarian neoplasm. This syndrome usually follows a benign course. Prognosis is favorable following surgical resection of the ovarian mass.	Orphanet:314451|MESH:D008539|NCIT:C3223|ICD9:629.89|SCTID:63402005|UMLS:C0025184|MedDRA:10027139	mondo.json	Meigs' syndrome|Demons-Meigs syndrome	http://purl.obolibrary.org/obo/MONDO_0017799	NCIT:C3223|UMLS:C0025184|http://identifiers.org/mesh/D008539|http://identifiers.org/snomedct/63402005|Orphanet:314451	ordo_clinical_syndrome
MONDO:0017794	biolink:Disease	Xq12-q13.3 duplication syndrome	Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.	SCTID:764711007|Orphanet:314389|UMLS:CN203749	mondo.json	dup(X)(q12-q13.3)	http://purl.obolibrary.org/obo/MONDO_0017794	UMLS:CN203749|Orphanet:314389|http://identifiers.org/snomedct/764711007	ordo_malformation_syndrome
MONDO:0015131	biolink:Disease	combined immunodeficiency	A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern.	DOID:628|UMLS:C0494261|NCIT:C27871|ICD9:279.2|Orphanet:101972	mondo.json	congenital combined immunodeficiency|X-linked combined immunodeficiency|combined T and B cell immunodeficiency|combined immunodeficiency|combined T cell and B cell immunodeficiency|CID	http://purl.obolibrary.org/obo/MONDO_0015131	Orphanet:101972|UMLS:C0494261|DOID:628|NCIT:C27871	ordo_group_of_disorders|disease_grouping
NCBITaxon:34503	biolink:OrganismalEntity	Paragonimus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_34503		
MONDO:0017795	biolink:Disease	ameloblastoma	The most common odontogenic tumor, arising from the epithelial component of the embryonic tooth and usually affecting the molar-ramus region of the mandible or maxilla. Although most ameloblastomas are morphologically and clinically benign, they may cause extensive local destruction, recur, or metastasize.	MESH:D000564|NCIT:C4313|Orphanet:314419|UMLS:C0563212|MedDRA:10066796|GARD:0005747|DOID:0050894|SCTID:285311001|UMLS:C0002448|ICDO:9310/0	mondo.json	ameloblastoma|adenomatoid odontogenic tumor|aot|Adenoameloblastoma|ameloblastoma of jaw|adamantinoma	http://purl.obolibrary.org/obo/MONDO_0017795	http://identifiers.org/snomedct/285311001|UMLS:C0002448|http://identifiers.org/mesh/D000564|DOID:0050894|Orphanet:314419|UMLS:C0563212|NCIT:C4313	gard_rare|ordo_disease
MONDO:0015130	biolink:Disease	acquired chronic primary adrenal insufficiency	An instance of chronic primary adrenal insufficiency that is acquired during the lifetime of the individual.	Orphanet:101963	mondo.json	acquired chronic primary adrenal insufficiency	http://purl.obolibrary.org/obo/MONDO_0015130	Orphanet:101963	disease_grouping|ordo_group_of_disorders
NCBITaxon:34504	biolink:OrganismalEntity	Paragonimus westermani		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_34504		
HGNC:30883	biolink:NamedThing	TMEM126B			mondo.json		http://identifiers.org/hgnc/30883		
MONDO:0017796	biolink:Disease	obsolete ameloblastic carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017796		
NCBITaxon:34502	biolink:OrganismalEntity	Troglotrematidae		GC_ID:1	mondo.json	Paragonimidae	http://purl.obolibrary.org/obo/NCBITaxon_34502		
MONDO:0017797	biolink:Disease	obsolete rare odontologic tumor	OBSOLETE. Any of the forms of odontogenic neoplasm that have a rare incidence.	Orphanet:314425|UMLS:CN203756	mondo.json	rare odontogenic tumor|rare odontogenic neoplasm	http://purl.obolibrary.org/obo/MONDO_0017797	UMLS:CN203756|Orphanet:314425	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0017790	biolink:Disease	gastric adenocarcinoma and proximal polyposis of the stomach	A rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis. This is an n-of-1 use case where only one patient or family has been described with this disorder.	Orphanet:157798|UMLS:CN203740|OMIM:619182|UMLS:C0236048|Orphanet:314022	mondo.json	familial fundic gland polyposis with gastric cancer|fundic gland polyposis|polyposis, gastric, Dos Santos and de Magalhaes 1980|polyposis, gastric|GAPPS	http://purl.obolibrary.org/obo/MONDO_0017790	UMLS:C0236048|Orphanet:314022|https://omim.org/entry/619182	n_of_one|ordo_disease
MONDO:0054743	biolink:Disease	polycystic liver disease 3 with or without kidney cysts	Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts.	OMIM:617874|UMLS:CN818986	mondo.json	PCLD3|polycystic liver disease 3 with or without kidney cysts	http://purl.obolibrary.org/obo/MONDO_0054743	https://omim.org/entry/617874|UMLS:CN818986	
MONDO:0015135	biolink:Disease	primary immunodeficiency due to a genetic defect in innate immunity		Orphanet:101988	mondo.json	primary immunodeficiency due to a defect in innate immunity	http://purl.obolibrary.org/obo/MONDO_0015135	Orphanet:101988	disease_grouping|ordo_group_of_disorders
HGNC:30881	biolink:NamedThing	ALG13			mondo.json		http://identifiers.org/hgnc/30881		
MONDO:0054742	biolink:Disease	combined oxidative phosphorylation deficiency 35		UMLS:CN807948|OMIM:617873|DOID:0111464	mondo.json	combined oxidative phosphorylation deficiency 35|COXPD35	http://purl.obolibrary.org/obo/MONDO_0054742	https://omim.org/entry/617873|DOID:0111464|UMLS:CN807948	
MONDO:0015134	biolink:Disease	constitutional neutropenia	A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood.	NCIT:C61242|ICD10CM:D70|Orphanet:101987	mondo.json	Kostmann syndrome|Kostmann neutropenia|Kostmann disease|genetic infantile agranulocytosis|infantile genetic agranulocytosis|congenital neutropenia	http://purl.obolibrary.org/obo/MONDO_0015134	Orphanet:101987|NCIT:C61242	disease_grouping|ordo_group_of_disorders
MONDO:0017791	biolink:Disease	high bone mass osteogenesis imperfecta		ICD10CM:Q78.0|UMLS:CN203741|Orphanet:314029	mondo.json	high bone mass OI	http://purl.obolibrary.org/obo/MONDO_0017791	Orphanet:314029|UMLS:CN203741	ordo_disease
MONDO:0030770	biolink:Disease	congenital disorder of deglycosylation 2		OMIM:619775	mondo.json	congenital disorder of deglycosylation 2|CDDG2	http://purl.obolibrary.org/obo/MONDO_0030770	https://omim.org/entry/619775	
MONDO:0015133	biolink:Disease	quantitative and/or qualitative congenital phagocyte defect		Orphanet:101985	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015133	Orphanet:101985	disease_grouping|ordo_group_of_disorders
MONDO:0054741	biolink:Disease	combined oxidative phosphorylation deficiency 34		OMIM:617872|DOID:0111497	mondo.json	combined oxidative phosphorylation deficiency 34|COXPD34	http://purl.obolibrary.org/obo/MONDO_0054741	DOID:0111497|https://omim.org/entry/617872	
MONDO:0017792	biolink:Disease	7p22.1 microduplication syndrome	7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.	UMLS:CN203742|SCTID:764703002|Orphanet:314034	mondo.json	trisomy 7p22.1|dup(7)(p22.1)	http://purl.obolibrary.org/obo/MONDO_0017792	http://identifiers.org/snomedct/764703002|Orphanet:314034|UMLS:CN203742	ordo_malformation_syndrome
MONDO:0054740	biolink:Disease	blepharocheilodontic syndrome 1	Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene.	OMIM:119580|DOID:0080345	mondo.json	BCD syndrome|Lagophthalmia with bilateral cleft 51P and palate|CDH1 blepharo-cheilo-odontic syndrome|blepharo-cheilo-odontic syndrome caused by mutation in CDH1|elschnig syndrome|blepharocheilodontic syndrome 1|clefting, ectropion, and conical teeth|ectropion, Inferior, with cleft 51P and/Or palate|BCDS1|blepharocheilodontic syndrome	http://purl.obolibrary.org/obo/MONDO_0054740	https://omim.org/entry/119580|DOID:0080345	
MONDO:0015132	biolink:Disease	immunodeficiency predominantly affecting antibody production		Orphanet:101977	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015132	Orphanet:101977	disease_grouping|ordo_group_of_disorders
MONDO:0017793	biolink:Disease	marfanoid habitus-inguinal hernia-advanced bone age syndrome		Orphanet:314041|UMLS:CN203743	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017793	UMLS:CN203743|Orphanet:314041	ordo_malformation_syndrome
MONDO:0054725	biolink:Disease	spermatogenic failure 21		OMIM:617644|DOID:0070163|UMLS:C4539991	mondo.json	spermatogenic failure 21|SPGF21	http://purl.obolibrary.org/obo/MONDO_0054725	https://omim.org/entry/617644|UMLS:C4539991|DOID:0070163	
MONDO:0054724	biolink:Disease	spermatogenic failure 20		DOID:0070166|OMIM:617593	mondo.json	spermatogenic failure 20|SPGF20	http://purl.obolibrary.org/obo/MONDO_0054724	https://omim.org/entry/617593|DOID:0070166	
MONDO:0054723	biolink:Disease	spermatogenic failure 19		OMIM:617592|DOID:0070170	mondo.json	SPGF19|spermatogenic failure 19	http://purl.obolibrary.org/obo/MONDO_0054723	https://omim.org/entry/617592|DOID:0070170	
MONDO:0054722	biolink:Disease	geleophysic dysplasia 3		DOID:0111727|OMIM:617809	mondo.json	GELEOPHYSIC dysplasia 3|GPHYSD3	http://purl.obolibrary.org/obo/MONDO_0054722	https://omim.org/entry/617809|DOID:0111727	
MONDO:0054729	biolink:Disease	spermatogenic failure 25		OMIM:617960	mondo.json	SPGF25|spermatogenic failure 25	http://purl.obolibrary.org/obo/MONDO_0054729	https://omim.org/entry/617960	
MONDO:0003157	biolink:Disease	disappearing bone disease	Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal.	DOID:4837|ICD9:733.09|SCTID:240161003|UMLS:C0029436	mondo.json	massive osteolysis|essential osteolysis|Gorham's disease|phantom bone disease|Gorham-Stout syndrome	http://purl.obolibrary.org/obo/MONDO_0003157	http://identifiers.org/snomedct/240161003|DOID:4837|UMLS:C0029436	
MONDO:0003158	biolink:Disease	malignant myoepithelioma	An infiltrating malignant tumor characterized by the presence of atypical cells with myoepithelial differentiation. Representative examples include malignant breast myoepithelioma and salivary gland myoepithelial carcinoma.	DOID:4838|ONCOTREE:STMYEC|GARD:0010558|ICDO:8982/3|NCIT:C7596|UMLS:C0334699	mondo.json	malignant myoepithelioma|myoepithelioma carcinoma|myoepithelial carcinoma|soft tissue myoepithelial carcinoma|myoepithelioma, malignant	http://purl.obolibrary.org/obo/MONDO_0003158	UMLS:C0334699|DOID:4838|NCIT:C7596	gard_rare
MONDO:0054728	biolink:Disease	spermatogenic failure 24		OMIM:617959|UMLS:CN244570	mondo.json	spermatogenic failure 24|SPGF24	http://purl.obolibrary.org/obo/MONDO_0054728	UMLS:CN244570|https://omim.org/entry/617959	
MONDO:0003159	biolink:Disease	vascular hemostatic disease	Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets.	DOID:484|SCTID:21112004|UMLS:C0600502|MESH:D020141	mondo.json	vascular hemostatic disorders|hemostatic disorder, vascular|hemostatic disorders, vascular|disorder, vascular hemostatic|vascular hemostatic disorder|disorders, vascular hemostatic|hemostatic disorder	http://purl.obolibrary.org/obo/MONDO_0003159	http://identifiers.org/mesh/D020141|DOID:484|http://identifiers.org/snomedct/21112004|UMLS:C0600502	
MONDO:0054727	biolink:Disease	spermatogenic failure 23		OMIM:617707|UMLS:C4540185|DOID:0070181	mondo.json	spermatogenic failure 23|SPGF23	http://purl.obolibrary.org/obo/MONDO_0054727	https://omim.org/entry/617707|UMLS:C4540185|DOID:0070181	
MONDO:0054726	biolink:Disease	spermatogenic failure 22		OMIM:617706|DOID:0070177	mondo.json	spermatogenic failure 22|SPGF22	http://purl.obolibrary.org/obo/MONDO_0054726	https://omim.org/entry/617706|DOID:0070177	
MONDO:0003153	biolink:Disease	adult brainstem glioma	A brain stem glioma that occurs in an adult.	DOID:4813|NCIT:C9091|UMLS:C0278873	mondo.json	adult brain stem glioma|adult brainstem glioma|glioma of adult brain stem|brain stem glioma|brain stem glioma of adults|glioma of the adult brain stem|adult brainstem neuroglial tumor|adult brainstem neuroglial neoplasm	http://purl.obolibrary.org/obo/MONDO_0003153	NCIT:C9091|UMLS:C0278873|DOID:4813	
MONDO:0003154	biolink:Disease	hemangioma of peripheral nerve	A hemangioma arising from the peripheral nerves.	DOID:482|NCIT:C27507|UMLS:C1333956	mondo.json	nerve hemangioma|hemangioma of nerve|hemangioma of peripheral nerve	http://purl.obolibrary.org/obo/MONDO_0003154	UMLS:C1333956|DOID:482|NCIT:C27507	
HGNC:27232	biolink:NamedThing	CFAP418			mondo.json		http://identifiers.org/hgnc/27232		
MONDO:0003155	biolink:Disease	cavernous hemangioma	A hemangioma characterized by the presence of cavernous vascular spaces.	DOID:483|MESH:D006392|SCTID:416824008|EFO:1000151|HP:0001048|ICDO:9121/0|NCIT:C3086|SCTID:56975005|UMLS:C0018920	mondo.json	cavernous angioma|cavernous hemangioma|cavernous haemangioma|cavernoma|cavernous hemangioma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003155	http://identifiers.org/snomedct/416824008|DOID:483|http://identifiers.org/mesh/D006392|UMLS:C0018920|NCIT:C3086	
HGNC:27230	biolink:NamedThing	ESCO2			mondo.json		http://identifiers.org/hgnc/27230		
MONDO:0003156	biolink:Disease	obsolete adenosquamous carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003156		
MONDO:0003150	biolink:Disease	male reproductive system disorder	A disease involving the male reproductive system.	NCIT:C27019|DOID:48|ICD9:600-608.99|ICD10WHO:N40-N51|MESH:D005832|ICD10CM:N40-N53|SCTID:363194005|ICD9:608.9	mondo.json	Male reproductive system disease|disease of male reproductive system|disease or disorder of male reproductive system|disorder of Male reproductive system|male reproductive system disease|Male reproductive system disorder|male reproductive system disease or disorder|disorder of male reproductive system|male reproductive disease	http://purl.obolibrary.org/obo/MONDO_0003150	http://identifiers.org/snomedct/363194005|NCIT:C27019|https://icd.who.int/browse10/2019/en#/N40-N51|http://identifiers.org/mesh/D005832|http://purl.bioontology.org/ontology/ICD10CM/N40-N53|DOID:48	
MONDO:0003151	biolink:Disease	obsolete movement disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003151		
MONDO:0003152	biolink:Disease	adult brainstem gliosarcoma		DOID:4812|NCIT:C9370|UMLS:C1377914	mondo.json	adult brain stem gliosarcoma|adult brainstem gliosarcoma	http://purl.obolibrary.org/obo/MONDO_0003152	NCIT:C9370|DOID:4812|UMLS:C1377914	
MONDO:0015128	biolink:Disease	primary adrenal insufficiency	A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary.	Orphanet:101958|UMLS:C3887896|MedDRA:10052381|NCIT:C113172	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015128	Orphanet:101958|UMLS:C3887896|NCIT:C113172	ordo_group_of_disorders|disease_grouping
MONDO:0015127	biolink:Disease	pituitary deficiency		ICD10CM:E23.0|UMLS:C0020635|Orphanet:101957	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015127	Orphanet:101957	ordo_group_of_disorders|disease_grouping
GO:1900372	biolink:NamedThing	negative regulation of purine nucleotide biosynthetic process	Any process that stops, prevents or reduces the frequency, rate or extent of purine nucleotide biosynthetic processes.		mondo.json	inhibition of purine nucleotide biosynthesis|downregulation of purine nucleotide formation|down-regulation of purine nucleotide anabolism|inhibition of purine nucleotide synthesis|negative regulation of purine nucleotide anabolism|downregulation of purine nucleotide biosynthesis|inhibition of purine nucleotide formation|downregulation of purine nucleotide biosynthetic process|down regulation of purine nucleotide anabolism|down-regulation of purine nucleotide synthesis|negative regulation of purine nucleotide synthesis|downregulation of purine nucleotide anabolism|down-regulation of purine nucleotide formation|down regulation of purine nucleotide biosynthetic process|down regulation of purine nucleotide biosynthesis|negative regulation of purine nucleotide formation|down regulation of purine nucleotide synthesis|inhibition of purine nucleotide biosynthetic process|negative regulation of purine nucleotide biosynthesis|down regulation of purine nucleotide formation|down-regulation of purine nucleotide biosynthetic process|down-regulation of purine nucleotide biosynthesis|downregulation of purine nucleotide synthesis|inhibition of purine nucleotide anabolism	http://purl.obolibrary.org/obo/GO_1900372		
MONDO:0015126	biolink:Disease	polyendocrinopathy		Orphanet:101956	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015126	Orphanet:101956	disease_grouping|ordo_group_of_disorders
MONDO:0015125	biolink:Disease	obsolete rare thyroid disease	OBSOLETE. Rare thyroid disease.	Orphanet:101955|UMLS:C0040128	mondo.json	rare thyroid gland disease|rare thyroid disease	http://purl.obolibrary.org/obo/MONDO_0015125	Orphanet:101955	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
GO:1900371	biolink:NamedThing	regulation of purine nucleotide biosynthetic process	Any process that modulates the frequency, rate or extent of purine nucleotide biosynthetic processes.		mondo.json	regulation of purine nucleotide biosynthesis|regulation of purine nucleotide anabolism|regulation of purine nucleotide synthesis|regulation of purine nucleotide formation	http://purl.obolibrary.org/obo/GO_1900371		
MONDO:0017787	biolink:Disease	erythroderma desquamativum		UMLS:CN203737|GARD:0002191|MESH:C535512|HGNC:1331|Orphanet:314	mondo.json	Leiner disease|erythroderma desquamativum of infancy|erythroderma desquamativa of Leiner|Leiner-Moussous desquamative erythroderma|generalized erythroderma, diarrhea, and failure to thrive	http://purl.obolibrary.org/obo/MONDO_0017787	UMLS:CN203737|Orphanet:314|http://identifiers.org/mesh/C535512	ordo_disease|gard_rare
MONDO:0017788	biolink:Disease	contractures - webbed neck - micrognathia - hypoplastic nipples syndrome		Orphanet:314002|UMLS:CN203738	mondo.json	Dinno syndrome	http://purl.obolibrary.org/obo/MONDO_0017788	UMLS:CN203738|Orphanet:314002	ordo_malformation_syndrome
MONDO:0017789	biolink:Disease	idiopathic linear interstitial keratitis	Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated.	Orphanet:314017	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017789	Orphanet:314017	ordo_disease
MONDO:0015129	biolink:Disease	chronic primary adrenal insufficiency	A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.	MedDRA:10001130|GARD:0005740|ICD9:255.41|SCTID:373662000|Orphanet:101959|DOID:13774|MESH:D000224|NCIT:C26689|OMIM:240200|UMLS:C0271737	mondo.json	adrenal aplasia|primary adrenal insufficiency, chronic|Addison disease, chronic adrenal insufficiency|hypoadrenocorticism familial|autoimmune adrenalitis|hypoadrenocorticism, familial|autoimmune primary adrenal insufficiency|adrenal hypoplasia|autoimmune Addison disease|primary adrenocortical insufficiency|Addison's disease|adrenal gland hypofunction|classic Addison's disease|primary Addison's disease|Addison disease|CPAI|primary hypoadrenalism|chronic adrenocorticoid insufficiency	http://purl.obolibrary.org/obo/MONDO_0015129	http://identifiers.org/snomedct/373662000|NCIT:C26689|Orphanet:101959|UMLS:C0271737|http://identifiers.org/mesh/D000224|https://omim.org/entry/240200|DOID:13774	ordo_group_of_disorders|ordo_disease|disease_grouping
MONDO:0017783	biolink:Disease	congenital pancreatic cyst		ICD10CM:Q45.2|SCTID:204808002|Orphanet:313906	mondo.json	neonatal congenital pancreatic cyst|true congenital pancreatic cyst	http://purl.obolibrary.org/obo/MONDO_0017783	http://purl.bioontology.org/ontology/ICD10CM/Q45.2|http://identifiers.org/snomedct/204808002|Orphanet:313906	ordo_morphological_anomaly
MONDO:0015120	biolink:Disease	obsolete rare acquired eye disease		UMLS:CN197477|Orphanet:101949	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015120	Orphanet:101949|UMLS:CN197477	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0017784	biolink:Disease	Epstein-Barr virus-associated gastric carcinoma	Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) is a rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis.	UMLS:CN203734|SCTID:716586009|Orphanet:313920	mondo.json	EBV-associated gastric carcinoma|EBVaGC	http://purl.obolibrary.org/obo/MONDO_0017784	UMLS:CN203734|http://identifiers.org/snomedct/716586009|Orphanet:313920	ordo_disease
MONDO:0030785	biolink:Disease	intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly		OMIM:619827	mondo.json	MRT75|intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	http://purl.obolibrary.org/obo/MONDO_0030785	https://omim.org/entry/619827	
MONDO:0017785	biolink:Disease	PENS syndrome	PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported.	UMLS:CN203735|Orphanet:313936	mondo.json	papular epidermal nevi with skyline basal cell layers syndrome	http://purl.obolibrary.org/obo/MONDO_0017785	UMLS:CN203735|Orphanet:313936	ordo_disease
MONDO:0017786	biolink:Disease	2q23.1 microduplication syndrome	2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.	UMLS:CN203736|Orphanet:313947|SCTID:766816008	mondo.json	trisomy 2q23.1|dup(2)(q23.1)	http://purl.obolibrary.org/obo/MONDO_0017786	UMLS:CN203736|Orphanet:313947|http://identifiers.org/snomedct/766816008	ordo_malformation_syndrome
GO:0071478	biolink:NamedThing	cellular response to radiation	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electromagnetic radiation stimulus. Electromagnetic radiation is a propagating wave in space with electric and magnetic components. These components oscillate at right angles to each other and to the direction of propagation.		mondo.json	cellular response to electromagnetic radiation stimulus|cellular response to radiation stimulus	http://purl.obolibrary.org/obo/GO_0071478		
MONDO:0054732	biolink:Disease	spermatogenic failure 28		OMIM:618086	mondo.json	SPGF28|spermatogenic failure 28	http://purl.obolibrary.org/obo/MONDO_0054732	https://omim.org/entry/618086	
MONDO:0015124	biolink:Disease	obsolete rare adrenal disease		Orphanet:101954	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015124	Orphanet:101954	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0017780	biolink:Disease	20p13 microdeletion syndrome	20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.	UMLS:CN203720|Orphanet:313781	mondo.json	Del(20)(p13)|20p subtelomeric deletion syndrome|monosomy 20p13	http://purl.obolibrary.org/obo/MONDO_0017780	UMLS:CN203720|Orphanet:313781	ordo_malformation_syndrome
MONDO:0015123	biolink:Disease	obsolete rare inherited dyslipidemia	OBSOLETE. Rare lipid metabolism disorder.	Orphanet:101953|ICD10CM:E78.5	mondo.json	rare lipid metabolism disorder|rare dyslipidemia	http://purl.obolibrary.org/obo/MONDO_0015123	Orphanet:101953	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0054731	biolink:Disease	spermatogenic failure 27		OMIM:617965	mondo.json	SPGF27|spermatogenic failure 27	http://purl.obolibrary.org/obo/MONDO_0054731	https://omim.org/entry/617965	
MONDO:0030781	biolink:Disease	restrictive dermopathy 2		OMIM:619793	mondo.json	RSDM2|restrictive dermopathy 2, lethal|restrictive dermopathy 2	http://purl.obolibrary.org/obo/MONDO_0030781	https://omim.org/entry/619793	
MONDO:0017781	biolink:Disease	12p12.1 microdeletion syndrome		UMLS:CN203731|Orphanet:313884	mondo.json	Del(12)(p12.1)|monosomy 12p12.1	http://purl.obolibrary.org/obo/MONDO_0017781	UMLS:CN203731|Orphanet:313884	ordo_malformation_syndrome
MONDO:0015122	biolink:Disease	obsolete rare diabetes mellitus	OBSOLETE. Rare diabetes mellitus.	Orphanet:101952|UMLS:CN226600	mondo.json	rare diabetes mellitus|rare diabetes mellitus (disease)	http://purl.obolibrary.org/obo/MONDO_0015122	Orphanet:101952|UMLS:CN226600	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0054730	biolink:Disease	spermatogenic failure 26		UMLS:CN244573|OMIM:617961	mondo.json	spermatogenic failure 26|SPGF26	http://purl.obolibrary.org/obo/MONDO_0054730	https://omim.org/entry/617961|UMLS:CN244573	
MONDO:0017782	biolink:Disease	developmental and speech delay due to SOX5 deficiency	Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).	Orphanet:313892	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017782	Orphanet:313892	ordo_disease
MONDO:0015121	biolink:Disease	obsolete rare eye tumor	OBSOLETE. Any of the forms of eye neoplasm that have a rare incidence.	Orphanet:101950	mondo.json	rare eye neoplasm	http://purl.obolibrary.org/obo/MONDO_0015121	Orphanet:101950	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0003128	biolink:Disease	classic pulmonary blastoma	A pulmonary blastoma composed of a mixture of irregular tubular structures and mesenchymal elements.	NCIT:C36054|UMLS:C1332556|DOID:4767	mondo.json	biphasic pulmonary blastoma|classic pulmonary blastoma	http://purl.obolibrary.org/obo/MONDO_0003128	NCIT:C36054|UMLS:C1332556|DOID:4767	
MONDO:0003129	biolink:Disease	epithelial predominant pulmonary blastoma	A non-encapsulated, well defined pulmonary blastoma, composed of irregular tubular structures. It affects mostly middle-aged adults and it is rare in children. The prognosis is better compared to the biphasic pulmonary blastoma.	UMLS:C1333420|DOID:4768|NCIT:C36053	mondo.json	epithelial predominant pulmonary blastoma	http://purl.obolibrary.org/obo/MONDO_0003129	NCIT:C36053|UMLS:C1333420|DOID:4768	
HGNC:30858	biolink:NamedThing	EFTUD2			mondo.json		http://identifiers.org/hgnc/30858		
HGNC:30859	biolink:NamedThing	SNRNP200			mondo.json		http://identifiers.org/hgnc/30859		
MONDO:0005787	biolink:Disease	hepatic tuberculosis	Infection of the liver with species of mycobacterium, most often mycobacterium tuberculosis. It is characterized by localized small tuberculous miliary lesions or tumor-like mass (tuberculoma), and abnormalities in liver function tests.	SCTID:186273003|DOID:407|MESH:D014386|UMLS:C0041313|ICD9:017.90|EFO:0007302	mondo.json	tuberculosis of liver	http://purl.obolibrary.org/obo/MONDO_0005787	http://identifiers.org/snomedct/186273003|http://identifiers.org/mesh/D014386|DOID:407|UMLS:C0041313	
MONDO:0003124	biolink:Disease	testicular Leydig cell tumor	A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics.	UMLS:C0863027|NCIT:C6356|SCTID:67871000119105|EFO:1000569|DOID:4756	mondo.json	Leydig cell tumor of the testis|Leydig cell neoplasm of testis|Leydig cell neoplasm of the testis|testis Leydig cell tumor|Leydig cell tumor of testis|testicular Leydig cell neoplasm|testicular Leydig cell tumor	http://purl.obolibrary.org/obo/MONDO_0003124	UMLS:C0863027|http://identifiers.org/snomedct/67871000119105|DOID:4756|NCIT:C6356	
MONDO:0030787	biolink:Disease	spermatogenic failure 71		OMIM:619831	mondo.json	spermatogenic failure 71|SPGF71	http://purl.obolibrary.org/obo/MONDO_0030787	https://omim.org/entry/619831	
OBO:mondo#MISSPELLING	biolink:NamedThing	A synonym that is recorded for consistency with another source but is a misspelling			mondo.json		http://purl.obolibrary.org/obo/mondo#MISSPELLING		
MONDO:0003125	biolink:Disease	testicular sex cord-stromal neoplasm	A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group.	NCIT:C6358|SCTID:702406000|UMLS:C3840076|DOID:4757|UMLS:CN204701|Orphanet:363489	mondo.json	sex cord-stromal tumor of the testis|testicular sex cord-stromal tumor|testis sex cord-stromal tumor|sex cord-stromal neoplasm of testis|sex cord-stromal tumor of testis|sex cord-stromal neoplasm of the testis|sex cord-stromal neoplasm|testicular sex cord-stromal neoplasm	http://purl.obolibrary.org/obo/MONDO_0003125	NCIT:C6358|UMLS:C3840076|UMLS:CN204701|http://identifiers.org/snomedct/702406000|Orphanet:363489|DOID:4757	ordo_disease
MONDO:0005786	biolink:Disease	Hepadnaviridae infectious disease	Virus diseases caused by the hepadnaviridae.	UMLS:C0206746|MESH:D018347|EFO:0007301	mondo.json	Hepadnaviridae caused disease or disorder|Hepadnaviridae disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005786	UMLS:C0206746|http://identifiers.org/mesh/D018347	
CHR:9606-chr6q16	biolink:NamedThing	6q16 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr6q16		
MONDO:0003126	biolink:Disease	breast hemangioma	A capillary or cavernous hemangioma arising from the breast.	NCIT:C5353|DOID:476|UMLS:C0853715	mondo.json	breast hemangioma|angioma of breast|hemangioma of the breast|hemangioma of breast|angioma of the breast|breast angioma	http://purl.obolibrary.org/obo/MONDO_0003126	NCIT:C5353|UMLS:C0853715|DOID:476	
MONDO:0005789	biolink:Disease	hepatitis D virus infection	Inflammation of the liver in humans caused by hepatitis delta virus, a defective rna virus that can only infect hepatitis B patients. For its viral coating, hepatitis delta virus requires the hepatitis B surface antigens produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact.	MESH:D003699|SCTID:707341005|DOID:2047|ICD9:070.52|Orphanet:402823|EFO:0007304	mondo.json	Hepatitis delta virus hepatitis|HDV|Hepatitis D virus|Hepatitis delta virus caused hepatitis|hepatitis type D|delta hepatitis|hepatitis delta	http://purl.obolibrary.org/obo/MONDO_0005789	http://identifiers.org/snomedct/707341005|http://identifiers.org/mesh/D003699|Orphanet:402823|DOID:2047	ordo_disease
MONDO:0005788	biolink:Disease	hepatitis E virus infection	Acute inflammation of the liver in humans; caused by hepatitis E virus, a non-enveloped single-stranded rna virus. Similar to hepatitis A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission.	SCTID:7111000119109|UMLS:C0085293|GARD:0009541|MESH:D016751|DOID:4411|EFO:0007303	mondo.json	Hepatitis E virus caused hepatitis|Hepatitis E virus hepatitis|hepatitis type E	http://purl.obolibrary.org/obo/MONDO_0005788	http://identifiers.org/snomedct/7111000119109|http://identifiers.org/mesh/D016751|UMLS:C0085293|DOID:4411	gard_rare
MONDO:0003127	biolink:Disease	obsolete embryoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003127		
MONDO:0003120	biolink:Disease	mixed testicular germ cell cancer	A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma.	UMLS:C1336720|NCIT:C6347|ONCOTREE:MGCT|DOID:4743	mondo.json	mixed testicular germ cell tumor|testicular germ cell tumor (mixed)|mixed germ cell tumor|testicular mixed germ cell neoplasm|testis mixed germ cell tumor|mixed germ cell neoplasm of testis|mixed germ cell tumor of testis|testicular mixed germ cell tumor|mixed germ cell neoplasm of the testis|mixed germ cell tumor of the testis	http://purl.obolibrary.org/obo/MONDO_0003120	UMLS:C1336720|DOID:4743|NCIT:C6347	
MONDO:0005783	biolink:Disease	hemopericardium	An accumulation of blood within the pericardial sac.	EFO:0007298|DOID:11482|UMLS:C0019064|SCTID:23412002|HP:0011851|ICD9:423.0	mondo.json	hemopericardium|haemopericardium|hemopericardium (disease)	http://purl.obolibrary.org/obo/MONDO_0005783	UMLS:C0019064|DOID:11482|http://identifiers.org/snomedct/23412002	
MONDO:0003121	biolink:Disease	middle cranial fossa meningioma	A meningioma that affects the middle cranial fossa.	DOID:4749|NCIT:C5586|UMLS:C1334757	mondo.json	middle cranial fossa meningioma (disease)|meningioma (disease) of middle cranial fossa|meningioma of the middle cranial fossa|meningioma of middle cranial fossa	http://purl.obolibrary.org/obo/MONDO_0003121	NCIT:C5586|UMLS:C1334757|DOID:4749	
MONDO:0005782	biolink:Disease	obsolete HELLP syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005782		
MONDO:0003122	biolink:Disease	striatonigral degeneration	A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements.	UMLS:C0270733|SCTID:29618004|ICD10CM:G23.2|NCIT:C125695|ICD9:333.0|MESH:D020955|DOID:4751|OMIMPS:271930	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003122	NCIT:C125695|http://identifiers.org/mesh/D020955|http://identifiers.org/snomedct/29618004|UMLS:C0270733|https://omim.org/phenotypicSeries/PS271930|DOID:4751|http://purl.bioontology.org/ontology/ICD10CM/G23.2	
MONDO:0005785	biolink:Disease	henipavirus infectious disease	Infections with viruses of the genus henipavirus, family paramyxoviridae.	EFO:0007300|MESH:D045464	mondo.json	Henipavirus infectious disease|Henipavirus caused disease or disorder|Henipavirus disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005785	http://identifiers.org/mesh/D045464	
MONDO:0005784	biolink:Disease	hantavirus hemorrhagic fever with renal syndrome	A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision.	EFO:0007299|ICD9:078.6|NCIT:C84753|ICD10CM:A98.5|DOID:11266|SCTID:102455002	mondo.json	HFRS|Puumala virus nephropathy|hemorrhagic fever with renal syndrome|hemorrhagic fever, Russian|hemorrhagic nephrosonephritis	http://purl.obolibrary.org/obo/MONDO_0005784	NCIT:C84753|http://purl.bioontology.org/ontology/ICD10CM/A98.5|http://identifiers.org/snomedct/102455002|DOID:11266	
MONDO:0003123	biolink:Disease	obsolete multiple system atrophy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003123		
GO:1900373	biolink:NamedThing	positive regulation of purine nucleotide biosynthetic process	Any process that activates or increases the frequency, rate or extent of purine nucleotide biosynthetic processes.		mondo.json	up regulation of purine nucleotide synthesis|up-regulation of purine nucleotide formation|positive regulation of purine nucleotide biosynthesis|positive regulation of purine nucleotide synthesis|up regulation of purine nucleotide biosynthesis|upregulation of purine nucleotide anabolism|up regulation of purine nucleotide biosynthetic process|up regulation of purine nucleotide formation|activation of purine nucleotide anabolism|activation of purine nucleotide biosynthetic process|up-regulation of purine nucleotide biosynthetic process|positive regulation of purine nucleotide formation|up-regulation of purine nucleotide biosynthesis|upregulation of purine nucleotide synthesis|activation of purine nucleotide synthesis|up-regulation of purine nucleotide anabolism|upregulation of purine nucleotide formation|activation of purine nucleotide formation|activation of purine nucleotide biosynthesis|up regulation of purine nucleotide anabolism|upregulation of purine nucleotide biosynthetic process|upregulation of purine nucleotide biosynthesis|up-regulation of purine nucleotide synthesis|positive regulation of purine nucleotide anabolism	http://purl.obolibrary.org/obo/GO_1900373		
MONDO:0005781	biolink:Disease	obsolete hantavirus pulmonary syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005781		
MONDO:0005780	biolink:Disease	hantavirus infectious disease	Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome.	UMLS:C0242994|EFO:0007295|ICD9:079.81|MESH:D018778|SCTID:359761005|NCIT:C3899	mondo.json	infections, Hantavirus|Hantavirus disease or disorder|Hantavirus infection|disease due to hantavirus|disease caused by hantavirus|Hantavirus infectious disease|Hantavirus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005780	http://identifiers.org/snomedct/359761005|NCIT:C3899|UMLS:C0242994|http://identifiers.org/mesh/D018778	
MONDO:0015117	biolink:Disease	obsolete rare hepatic and biliary tract tumor	OBSOLETE. Any of the forms of hepatobiliary neoplasm that have a rare incidence.	UMLS:CN197474|Orphanet:101943	mondo.json	rare hepatobiliary neoplasm	http://purl.obolibrary.org/obo/MONDO_0015117	UMLS:CN197474|Orphanet:101943	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0015116	biolink:Disease	obsolete rare biliary tract disease	OBSOLETE. Rare biliary tract disease.	UMLS:C0750952|UMLS:CN197473|Orphanet:101941	mondo.json	rare biliary tract disease	http://purl.obolibrary.org/obo/MONDO_0015116	UMLS:CN197473|Orphanet:101941	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0015115	biolink:Disease	obsolete rare genetic metabolic liver disease		Orphanet:101940|MedDRA:10019689|UMLS:C0851734	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015115	UMLS:C0851734|Orphanet:101940	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0015114	biolink:Disease	obsolete rare parenchymal liver disease		UMLS:CN197471|Orphanet:101939	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015114	UMLS:CN197471|Orphanet:101939	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0017776	biolink:Disease	nocardiosis	Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection.	ICD10CM:A43|EFO:0007397|GARD:0007210|SCTID:29227009|MESH:D009617|Orphanet:31204|DOID:2312|MedDRA:10029444	mondo.json	lung nocardiosis|Nocardia infectious disease|Nocardia disease or disorder|Nocardia infection|Nocardia caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0017776	http://identifiers.org/snomedct/29227009|Orphanet:31204|http://identifiers.org/mesh/D009617|http://purl.bioontology.org/ontology/ICD10CM/A43|DOID:2312	gard_rare|ordo_disease
MONDO:0017777	biolink:Disease	obsolete rat-bite fever			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017777		
MONDO:0017778	biolink:Disease	lamellar ichthyosis	A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.	GARD:0010803|NCIT:C84805|MedDRA:10023686|OMIM:242300|Orphanet:313	mondo.json	congenital lamellar ichthyosis|LI|classic lamellar ichthyosis	http://purl.obolibrary.org/obo/MONDO_0017778	NCIT:C84805|Orphanet:313	ordo_disease
MONDO:0015119	biolink:Disease	obsolete bronchopulmonary tumor		Orphanet:101945|UMLS:CN197476	mondo.json	rare bronchopulmonary tumor	http://purl.obolibrary.org/obo/MONDO_0015119	UMLS:CN197476|Orphanet:101945	ordo_group_of_disorders|disease_grouping
MONDO:0017779	biolink:Disease	alpha-N-acetylgalactosaminidase deficiency	Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.	SCTID:238048001|Orphanet:3137|ICD9:277.89	mondo.json	Schindler disease|alpha-N-acetylgalactosaminidase activity disease|NAGA deficiency|disorder of alpha-N-acetylgalactosaminidase activity	http://purl.obolibrary.org/obo/MONDO_0017779	http://identifiers.org/snomedct/238048001|Orphanet:3137	ordo_disease
MONDO:0015118	biolink:Disease	obsolete rare pulmonary disease		Orphanet:101944	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015118	Orphanet:101944	
MONDO:0017772	biolink:Disease	oral erosive lichen		Orphanet:31142|UMLS:CN203692	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017772	UMLS:CN203692|Orphanet:31142	ordo_disease
MONDO:0054761	biolink:Disease	microcephaly 20, primary, autosomal recessive		OMIM:617914	mondo.json	MCPH20|microcephaly 20, PRIMARY, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0054761	https://omim.org/entry/617914	
MONDO:0017773	biolink:Disease	hypoalphalipoproteinemia	A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood.	Orphanet:31153|SCTID:190785000|MedDRA:10065156|UMLS:C0473527|NCIT:C84774|MESH:D052456	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017773	NCIT:C84774|Orphanet:31153|http://identifiers.org/snomedct/190785000|http://identifiers.org/mesh/D052456|UMLS:C0473527	ordo_group_of_disorders|disease_grouping
MONDO:0017774	biolink:Disease	hypobetalipoproteinemia	A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol.	Orphanet:31154|DOID:1390|SCTID:190786004|UMLS:C0020597|MESH:D006995	mondo.json	hypo-beta-lipoproteinemia	http://purl.obolibrary.org/obo/MONDO_0017774	UMLS:C0020597|Orphanet:31154|http://identifiers.org/snomedct/190786004|http://identifiers.org/mesh/D006995|DOID:1390	ordo_group_of_disorders|disease_grouping
MONDO:0030796	biolink:Disease	leukoencephalopathy, hereditary diffuse, with spheroids		OMIMPS:221820	mondo.json		http://purl.obolibrary.org/obo/MONDO_0030796	https://omim.org/phenotypicSeries/PS221820	
MONDO:0017775	biolink:Disease	melioidosis	An infection that is caused by Burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration.	DOID:5052|MESH:D008554|UMLS:C0025229|MedDRA:10069748|NCIT:C128336|UMLS:C0348971|ICD9:025|Orphanet:31202|UMLS:C0348970|SCTID:186312003|GARD:0009546	mondo.json	pseudoglanders|Nightcliff gardener's disease|Burkholderia pseudomallei infection|B pseudomallei infection|Burkholderia pseudomallei disease or disorder|Whitmore's disease|Burkholderia pseudomallei infectious disease|acute and fulminating melioidosis|Burkholderia pseudomallei caused disease or disorder|Whitmore disease|subacute and chronic melioidosis	http://purl.obolibrary.org/obo/MONDO_0017775	UMLS:C0348971|UMLS:C0348970|DOID:5052|UMLS:C0025229|Orphanet:31202|NCIT:C128336|http://identifiers.org/mesh/D008554|http://identifiers.org/snomedct/186312003	ordo_disease|gard_rare
MONDO:0054765	biolink:Disease	amyloidosis, primary localized cutaneous, 3		OMIM:617920	mondo.json	amyloidosis cutis dyschromica|amyloidosis, PRIMARY LOCALIZED cutaneous, 3|PLCA3	http://purl.obolibrary.org/obo/MONDO_0054765	https://omim.org/entry/617920	
MONDO:0015113	biolink:Disease	obsolete rare vascular liver disease		UMLS:C0400923|Orphanet:101938	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015113	Orphanet:101938	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0015112	biolink:Disease	obsolete rare pancreatic disease	OBSOLETE. Any of the forms of pancreas disease that have a rare incidence.	Orphanet:101937	mondo.json	rare pancreas disease	http://purl.obolibrary.org/obo/MONDO_0015112	Orphanet:101937	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0054764	biolink:Disease	neurodegeneration with brain iron accumulation 8		UMLS:CN895591|OMIM:617917	mondo.json	NBIA8|neurodegeneration with brain iron accumulation 8	http://purl.obolibrary.org/obo/MONDO_0054764	UMLS:CN895591|https://omim.org/entry/617917	
MONDO:0015111	biolink:Disease	gastroesophageal disease		Orphanet:101936|UMLS:CN197468	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015111	UMLS:CN197468|Orphanet:101936	ordo_group_of_disorders|disease_grouping
MONDO:0017770	biolink:Disease	Robinow-like syndrome	Robinow-like syndrome is characterized by the association of the clinical features present in Robinow syndrome (short stature, mesomelic brachymelia, macrocephaly, and hypoplastic genitalia), with anterior chamber cleavage anomalies. It has been described in two sisters and is transmitted as an autosomal recessive trait.	SCTID:721905000|Orphanet:3105|UMLS:C4302956|UMLS:CN203671	mondo.json	Saal-Greenstein syndrome	http://purl.obolibrary.org/obo/MONDO_0017770	Orphanet:3105|UMLS:CN203671|http://identifiers.org/snomedct/721905000|UMLS:C4302956	ordo_malformation_syndrome
MONDO:0054763	biolink:Disease	neurodegeneration with brain iron accumulation 7		UMLS:CN895590|OMIM:617916	mondo.json	NBIA7|neurodegeneration with brain iron accumulation 7	http://purl.obolibrary.org/obo/MONDO_0054763	UMLS:CN895590|https://omim.org/entry/617916	
MONDO:0015110	biolink:Disease	genetic cardiac rhythm disease	An instance of cardiac rhythm disease that is caused by a modification of the individual's genome.	UMLS:CN197467|Orphanet:101934	mondo.json	genetic cardiac rhythm disease	http://purl.obolibrary.org/obo/MONDO_0015110	UMLS:CN197467|Orphanet:101934	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0017771	biolink:Disease	Mayer-Rokitansky-Kuster-Hauser syndrome	Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).	NCIT:C124853|Orphanet:3109|MedDRA:10065148	mondo.json	MRKH|Mullerian aplasia/dysgenesis|MRKH syndrome|Rokitansky syndrome|Mayer-Rokitansky-Küster-Hauser syndrome	http://purl.obolibrary.org/obo/MONDO_0017771	Orphanet:3109|NCIT:C124853	ordo_malformation_syndrome
MONDO:0003139	biolink:Disease	mesangial proliferative glomerulonephritis	Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. It can also present with blood in the urine (hematuria). MPGN is characterized by an increased number of mesangial cells in the glomeruli in the kidneys and damage to the glomeruli. Glomeruli are the structures that help filter wastes and fluids. MPGN may occur in several renal diseases such as IgA nephropathy (commonly), IgM nephropathy, lupus nephritis, and C1q nephropathy.However, in some cases, the underlying cause of MPGN remains unclear. Treatment may depend on the cause (if known) and may include steroids, mycophenolate mofetil, and/or cyclophosphamide, and other therapies to treat specific symptoms. Most people with MPGN have a good prognosis, but some may develop chronic kidney disease, which can progress to end stage renal failure.	DOID:4783|SCTID:35546006|NCIT:C35445|UMLS:C0221238|GARD:0009580	mondo.json	glomerulonephritis - mesangial proliferative|Mesangioproliferative glomerulonephritis|mesangial proliferative GN	http://purl.obolibrary.org/obo/MONDO_0003139	http://identifiers.org/snomedct/35546006|NCIT:C35445|DOID:4783|UMLS:C0221238	gard_rare
GO:0071495	biolink:NamedThing	cellular response to endogenous stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism.		mondo.json		http://purl.obolibrary.org/obo/GO_0071495		
MONDO:0030798	biolink:Disease	immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias	An autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Laboratory studies reveal hypogammaglobulinemia with decreased memory B cells that show impaired class-switch recombination (CSR) and decreased somatic hypermutation (SHM). Due to abnormal antibody production and impaired self-tolerance, patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. There are also defects in the T-cell compartment.	OMIM:619846	mondo.json	IMD99|immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias	http://purl.obolibrary.org/obo/MONDO_0030798	https://omim.org/entry/619846	
MONDO:0003135	biolink:Disease	focal embolic glomerulonephritis	Inflammation of a specific segment of glomeruli, which is associated with subacute bacterial endocarditis, and frequently produces microscopic hematuria without azotemia.	UMLS:C0238143|NCIT:C35707|DOID:4779	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003135	UMLS:C0238143|NCIT:C35707|DOID:4779	
MONDO:0005798	biolink:Disease	HIV-associated nephropathy	Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings.	UMLS:C0078911|NCIT:C26918|EFO:0007313|MESH:D016263	mondo.json	AIDS-associated nephropathy|HIVAN|AIDS-related nephropathy|HIV nephropathy	http://purl.obolibrary.org/obo/MONDO_0005798	http://identifiers.org/mesh/D016263|NCIT:C26918|UMLS:C0078911	
MONDO:0030797	biolink:Disease	retinitis pigmentosa 93		OMIM:619845	mondo.json	RP93|retinitis pigmentosa 93	http://purl.obolibrary.org/obo/MONDO_0030797	https://omim.org/entry/619845	
MONDO:0005797	biolink:Disease	HIV wasting syndrome	Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than hiv infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611).	Orphanet:90081|UMLS:C0343755|MESH:D019247|EFO:0007312	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005797	Orphanet:90081|UMLS:C0343755|http://identifiers.org/mesh/D019247	
MONDO:0003136	biolink:Disease	anti-basement membrane glomerulonephritis	Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function.	DOID:4780|UMLS:C1332309|NCIT:C35798	mondo.json	anti-glomerular basement Membrane antibody disease|anti-GBM antibody disease	http://purl.obolibrary.org/obo/MONDO_0003136	UMLS:C1332309|NCIT:C35798|DOID:4780	
MONDO:0003137	biolink:Disease	diffuse glomerulonephritis	Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure.	DOID:4781|NCIT:C35799|UMLS:C0859036	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003137	UMLS:C0859036|NCIT:C35799|DOID:4781	
MONDO:0054749	biolink:Disease	obsolete body mass index quantitative trait locus 19		OMIM:617885	mondo.json	BMIQ19|obesity, Susceptibility to|obesity, susceptibility to, BMIQ19|body MASS index quantitative trait locus 19	http://purl.obolibrary.org/obo/MONDO_0054749	https://omim.org/entry/617885	
MONDO:0003138	biolink:Disease	subacute glomerulonephritis	A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. The histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis.	DOID:4782|SCTID:123609007|NCIT:C35801|UMLS:C1263744	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003138	UMLS:C1263744|NCIT:C35801|DOID:4782|http://identifiers.org/snomedct/123609007	
MONDO:0005799	biolink:Disease	hookworm infectious disease	Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ancylostomiasis and necatoriasis are available.	EFO:0007314	mondo.json	Bunostomiases|Bunostomiasis|infection, hookworm|infections, hookworm|hookworm infection	http://purl.obolibrary.org/obo/MONDO_0005799		
MONDO:0054748	biolink:Disease	Fanconi anemia, complementation group S		OMIM:617883	mondo.json	Fanconi anemia, complementation group S|Fanconi anemia, complementation GROUP S|FANCS	http://purl.obolibrary.org/obo/MONDO_0054748	https://omim.org/entry/617883	
MONDO:0005794	biolink:Disease	Herpesviridae infectious disease	Virus diseases caused by the herpesviridae.	EFO:0007309|SCTID:23513009|MESH:D006566	mondo.json	herpesvirus infection|herpes infection|infections, Herpesvirus|infection, Herpesviridae|Herpesviridae infections|infection, Herpesvirus|Herpesvirus infections|Herpesviridae caused disease or disorder|Herpesviridae infection|Herpesviridae disease or disorder|Herpesvirus infection|infections, Herpesviridae	http://purl.obolibrary.org/obo/MONDO_0005794	http://identifiers.org/snomedct/23513009|http://identifiers.org/mesh/D006566	
GO:1900389	biolink:NamedThing	obsolete regulation of glucose import by regulation of transcription from RNA polymerase II promoter	OBSOLETE. A regulation of transcription from RNA polymerase II promoter that results in regulation of glucose import.		mondo.json	regulation of glucose uptake by regulation of transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_1900389		
MONDO:0003131	biolink:Disease	obsolete congenital mesoblastic nephroma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003131		
MONDO:0005793	biolink:Disease	obsolete herpes simplex virus keratitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005793		
MONDO:0003132	biolink:Disease	obsolete rapidly progressive glomerulonephritis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003132		
MONDO:0005796	biolink:Disease	HIV enteropathy	A syndrome characterized by chronic, well-established diarrhea (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an hiv-positive individual. It is thought to be due to direct or indirect effects of hiv on the enteric mucosa. hiv enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155)	MESH:D019053|UMLS:C0282616|EFO:0007311	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005796	UMLS:C0282616|http://identifiers.org/mesh/D019053	
MONDO:0003133	biolink:Disease	exudative glomerulonephritis	Inflammation of the glomeruli with infiltration by polymorphonuclear leukocytes.	NCIT:C35706|DOID:4777|UMLS:C0546345	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003133	NCIT:C35706|DOID:4777|UMLS:C0546345	
MONDO:0003134	biolink:Disease	proliferative glomerulonephritis	A constellation of renal disorders characterized by an increase number of cells in the glomerulus; these disorders generally present with nephrotic syndrome, and generally progress to end stage renal failure over a matter of weeks to years, depending on the etiology. Examples include IgA nephropathy, membranoproliferative glomerulonephritis, and rapidly progressive glomerulonephritis.	ICD9:583.0|UMLS:C0235618|DOID:4778|NCIT:C35281|SCTID:441815006	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003134	NCIT:C35281|http://identifiers.org/snomedct/441815006|UMLS:C0235618|DOID:4778	
MONDO:0005795	biolink:Disease	obsolete histoplasmosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005795		
MONDO:0005790	biolink:Disease	hepatitis A virus infection	Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water.	DOID:12549|SCTID:40468003|NCIT:C3096|EFO:0007305|UMLS:C0019159|MESH:D006506	mondo.json	viral hepatitis, type A|hepatitis type A|viral hepatitis A|Hepatitis A infection|Hepatitis A	http://purl.obolibrary.org/obo/MONDO_0005790	UMLS:C0019159|http://identifiers.org/mesh/D006506|DOID:12549|NCIT:C3096|http://identifiers.org/snomedct/40468003	
MONDO:0005792	biolink:Disease	herpes simplex virus gingivostomatitis	Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents.	MESH:D013283|EFO:0007307|SCTID:57920007	mondo.json	Simplexvirus caused stomatitis|Gingivostomatitis, herpetic|Gingivostomatitides, herpetic|Simplexvirus stomatitis|herpetic stomatitis|herpetic Stomatitides|herpetic Gingivostomatitis|oral Herpes simplex|simplex, oral Herpes|Herpes simplex, oral|herpetic Gingivostomatitides|Stomatitides, herpetic	http://purl.obolibrary.org/obo/MONDO_0005792	http://identifiers.org/mesh/D013283|http://identifiers.org/snomedct/57920007	
GO:1900387	biolink:NamedThing	obsolete negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter	OBSOLETE. A negative regulation of transcription from RNA polymerase II promoter that results in negative regulation of cell-cell adhesion.		mondo.json		http://purl.obolibrary.org/obo/GO_1900387		
MONDO:0003130	biolink:Disease	mesoblastic nephroma	A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult.	UMLS:C0206628|MESH:D018201|DOID:4772|ICD9:236.99|SCTID:307604008	mondo.json	mesoblastic nephroma (morphologic abnormality)|mesoblastic nephroma	http://purl.obolibrary.org/obo/MONDO_0003130	http://identifiers.org/snomedct/307604008|UMLS:C0206628|http://identifiers.org/mesh/D018201	
MONDO:0005791	biolink:Disease	herpangina	A viral infectious disease that results in infection located in mouth, has material basis in Human coxsackievirus A16, has material basis in Human enterovirus 71, has material basis in group B coxsackievirus, or has material basis in echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars.	ICD9:074.0|SCTID:274102007|UMLS:C0019338|DOID:10883|EFO:0007306|MESH:D006557	mondo.json	vesicular pharyngitis	http://purl.obolibrary.org/obo/MONDO_0005791	DOID:10883|http://identifiers.org/snomedct/274102007|UMLS:C0019338|http://identifiers.org/mesh/D006557	
MONDO:0017769	biolink:Disease	acquired immunodeficiency		Orphanet:310050	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017769	Orphanet:310050	ordo_group_of_disorders|disease_grouping
MONDO:0015106	biolink:Disease	obsolete rare urogenital disease		UMLS:CN197464|Orphanet:101433	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015106	Orphanet:101433|UMLS:CN197464	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
GO:1900392	biolink:NamedThing	obsolete regulation of transport by negative regulation of transcription from RNA polymerase II promoter	OBSOLETE. A negative regulation of transcription from RNA polymerase II promoter that results in regulation of transport.		mondo.json		http://purl.obolibrary.org/obo/GO_1900392		
MONDO:0015105	biolink:Disease	obsolete African tick typhus			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015105		
MONDO:0015104	biolink:Disease	porphyria cutanea tarda	The most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis.	Orphanet:101330|DOID:3132|ONCOTREE:PCT|GARD:0007433|NCIT:C27725|MedDRA:10036183|MESH:D017119|UMLS:C0162566|SCTID:61860000	mondo.json	PCT|porphyria cutania tarda	http://purl.obolibrary.org/obo/MONDO_0015104	http://identifiers.org/mesh/D017119|NCIT:C27725|Orphanet:101330|http://identifiers.org/snomedct/61860000|UMLS:C0162566|DOID:3132	ordo_disease
MONDO:0015103	biolink:Disease	pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome	Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion.	UMLS:CN197455|Orphanet:101206	mondo.json	APV/ADA, Fallot type|PVA/ADA, Fallot type|absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome	http://purl.obolibrary.org/obo/MONDO_0015103	Orphanet:101206|UMLS:CN197455	ordo_malformation_syndrome
GO:1900393	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_1900393		
MONDO:0017765	biolink:Disease	disorder of magnesium transport	An inherited metabolic disease that is has its basis in the disruption of magnesium ion transport.	UMLS:CN227207|Orphanet:309848	mondo.json	inborn magnesium ion transport disorder|rare inborn error of magnesium ion transport|inborn error of magnesium ion transport	http://purl.obolibrary.org/obo/MONDO_0017765	Orphanet:309848|UMLS:CN227207	ordo_group_of_disorders|disease_grouping
MONDO:0017766	biolink:Disease	disorder of manganese transport		Orphanet:309851|UMLS:CN227208	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017766	Orphanet:309851|UMLS:CN227208	ordo_group_of_disorders|disease_grouping
MONDO:0015109	biolink:Disease	congenital anomaly of the mitral subvalvular apparatus		Orphanet:101932	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015109	Orphanet:101932	ordo_morphological_anomaly
MONDO:0017767	biolink:Disease	rheumatic fever	A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis.	ICD9:390-392.99|ICD9:390|SCTID:58718002|Orphanet:3099|EFO:1001160|UMLS:C0035436|ICD10CM:I00-I02|NCIT:C34984|SCTID:81077008|MESH:D012213|DOID:1586|MedDRA:10039054|GARD:0005699	mondo.json	ARF|inflammatory rheumatism|acute rheumatic fever|RHF - rheumatic fever	http://purl.obolibrary.org/obo/MONDO_0017767	UMLS:C0035436|http://purl.bioontology.org/ontology/ICD10CM/I00-I02|DOID:1586|Orphanet:3099|http://identifiers.org/mesh/D012213|http://identifiers.org/snomedct/58718002|NCIT:C34984	ordo_disease|gard_rare
MONDO:0015108	biolink:Disease	obsolete rare non-syndromic intellectual disability	OBSOLETE. Rare non-syndromic intellectual disability.	GARD:0012633|UMLS:CN226598|Orphanet:101685	mondo.json	rare NSID|rare intellectual disability without developmental anomaly|rare non-syndromic intellectual disability|rare non-syndromic intellectual deficiency	http://purl.obolibrary.org/obo/MONDO_0015108	Orphanet:101685|UMLS:CN226598	obsoletion_candidate|ordo_disease
MONDO:0017768	biolink:Disease	reflex epilepsy	Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy).	DOID:2548|ICD9:345.10|Orphanet:310|SCTID:79745005|NCIT:C85041|UMLS:C0270857|EFO:1001146|MESH:D020195	mondo.json	epilepsy, sensory-induced	http://purl.obolibrary.org/obo/MONDO_0017768	NCIT:C85041|DOID:2548|http://identifiers.org/mesh/D020195|http://identifiers.org/snomedct/79745005|Orphanet:310|UMLS:C0270857	ordo_group_of_disorders|disease_grouping
MONDO:0015107	biolink:Disease	obsolete rare genetic eye disease	OBSOLETE. A form of eye disease that is both rare and inborn.	UMLS:CN197465|Orphanet:101435	mondo.json	rare genetic eye disease|rare genetic ophthalmologic disease	http://purl.obolibrary.org/obo/MONDO_0015107	Orphanet:101435|UMLS:CN197465	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0054750	biolink:Disease	amyotrophic lateral sclerosis, susceptibility to, 24		UMLS:CN842244|OMIM:617892	mondo.json	ALS24|amyotrophic lateral sclerosis, susceptibility to, 24	http://purl.obolibrary.org/obo/MONDO_0054750	UMLS:CN842244|https://omim.org/entry/617892	predisposition
MONDO:0017761	biolink:Disease	disorder of mineral absorption and transport		ICD10CM:E83.1|UMLS:CN227205|Orphanet:309836|ICD10CM:E83.3	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017761	Orphanet:309836|UMLS:CN227205	ordo_group_of_disorders|disease_grouping
MONDO:0017762	biolink:Disease	disorder of copper metabolism	An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis.	SCTID:79886009|UMLS:CN043585|Orphanet:309839|UMLS:C0012714|ICD9:275.1|MedDRA:10061091	mondo.json	copper Transport disorders|inborn cellular copper ion homeostasis disorder|rare inborn error of cellular copper ion homeostasis|inborn error of cellular copper ion homeostasis	http://purl.obolibrary.org/obo/MONDO_0017762	http://identifiers.org/snomedct/79886009|Orphanet:309839|UMLS:CN043585|UMLS:C0012714	disease_grouping|ordo_group_of_disorders
MONDO:0017763	biolink:Disease	disorder of iron metabolism and transport		Orphanet:309842|ICD10CM:E83.1|UMLS:CN227206	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017763	Orphanet:309842|UMLS:CN227206	ordo_group_of_disorders|disease_grouping
MONDO:0017764	biolink:Disease	disorder of zinc metabolism		Orphanet:309845|MedDRA:10048260|ICD9:275.8|SCTID:46727001	mondo.json	disorder of zinc metabolism and transport	http://purl.obolibrary.org/obo/MONDO_0017764	Orphanet:309845|http://identifiers.org/snomedct/46727001	ordo_group_of_disorders|disease_grouping
MONDO:0054754	biolink:Disease	encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8		OMIM:617900|UMLS:CN865669	mondo.json	IIAE8|encephalopathy, ACUTE, infection-induced (HERPES-specific), susceptibility to, 8|Herpes simplex encephalitis, Susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0054754	https://omim.org/entry/617900|UMLS:CN865669	predisposition
MONDO:0015102	biolink:Disease	non-secreting chemodectoma		Orphanet:101106	mondo.json	non-functioning chemodectoma|non-secreting chemodectoma	http://purl.obolibrary.org/obo/MONDO_0015102	Orphanet:101106	ordo_clinical_subtype
MONDO:0015101	biolink:Disease	Marin-Amat syndrome		UMLS:CN197448|Orphanet:101104	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015101	Orphanet:101104|UMLS:CN197448	ordo_clinical_subtype
MONDO:0015100	biolink:Disease	aregenerative anemia		UMLS:C0002893|MedDRA:10054329|Orphanet:101096|UMLS:C0553669|SCTID:89112009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015100	http://identifiers.org/snomedct/89112009|Orphanet:101096|UMLS:C0553669	ordo_disease
MONDO:0054752	biolink:Disease	multiple synostoses syndrome 4		UMLS:CN842246|OMIM:617898	mondo.json	multiple synostoses syndrome 4|SYNS4	http://purl.obolibrary.org/obo/MONDO_0054752	UMLS:CN842246|https://omim.org/entry/617898	
MONDO:0017760	biolink:Disease	disorder of other vitamins and cofactors metabolism and transport		Orphanet:309833|UMLS:CN227204	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017760	Orphanet:309833|UMLS:CN227204	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
HGNC:17893	biolink:NamedThing	PGAP2			mondo.json		http://identifiers.org/hgnc/17893		
GO:0071496	biolink:NamedThing	cellular response to external stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0071496		
HGNC:30839	biolink:NamedThing	KRT25			mondo.json		http://identifiers.org/hgnc/30839		
MONDO:0030724	biolink:Disease	hearing loss, autosomal dominant 84		OMIM:619810	mondo.json	deafness, autosomal dominant 84|DFNA84	http://purl.obolibrary.org/obo/MONDO_0030724	https://omim.org/entry/619810	
MONDO:0030727	biolink:Disease	developmental and epileptic encephalopathy 101		OMIM:619814	mondo.json	developmental and epileptic encephalopathy 101|DEE101	http://purl.obolibrary.org/obo/MONDO_0030727	https://omim.org/entry/619814	
HGNC:30836	biolink:NamedThing	POC1B			mondo.json		http://identifiers.org/hgnc/30836		
MONDO:0030726	biolink:Disease	neutropenia, severe congenital, 9, autosomal dominant		OMIM:619813	mondo.json	SCN9|neutropenia, severe congenital, 9, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0030726	https://omim.org/entry/619813	
MONDO:0015171	biolink:Disease	congenital enterocyte heparan sulfate deficiency	Congenital enterocyte heparan sulphate deficiency is characterised by massive enteric protein loss, secretory diarrhoea, and intolerance to enteral feeds during the first few weeks of life.	SCTID:725591002|Orphanet:103910	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015171	http://identifiers.org/snomedct/725591002|Orphanet:103910	ordo_disease
MONDO:0030721	biolink:Disease	spermatogenic failure 68		OMIM:619805	mondo.json	spermatogenic failure 68|SPGF68	http://purl.obolibrary.org/obo/MONDO_0030721	https://omim.org/entry/619805	
MONDO:0030720	biolink:Disease	trichomonal vulvovaginitis	An vulvovaginitis caused by infection with Trichomonas vaginalis.	UMLS:C2945558|ICD9:131.01|SCTID:81598001	mondo.json	trichomonal leukorrhea|Trichomonas vaginalis vulvovaginitis|leukorrhea vaginalis - trichomonal|Trichomonas vaginalis caused vulvovaginitis|trichomonal vulvovaginitis	http://purl.obolibrary.org/obo/MONDO_0030720	http://identifiers.org/snomedct/81598001|UMLS:C2945558	
MONDO:0015170	biolink:Disease	congenital sodium diarrhea	Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.	Orphanet:103908|SCTID:18805001	mondo.json	Na-H exchange deficiency	http://purl.obolibrary.org/obo/MONDO_0015170	http://identifiers.org/snomedct/18805001|Orphanet:103908	ordo_disease
HGNC:30832	biolink:NamedThing	TRAPPC9			mondo.json		http://identifiers.org/hgnc/30832		
MONDO:0030723	biolink:Disease	hearing loss, autosomal dominant 83		OMIM:619808	mondo.json	deafness, autosomal dominant 83|DFNA83	http://purl.obolibrary.org/obo/MONDO_0030723	https://omim.org/entry/619808	
MONDO:0003186	biolink:Disease	esophageal adenoid cystic carcinoma	An infrequent esophageal carcinoma arising from esophageal glands. (WHO)	UMLS:C1333441|DOID:4878|NCIT:C5342	mondo.json	adenoid cystic carcinoma of the esophagus|adenoid cystic carcinoma of esophagus|esophageal adenoid cystic carcinoma|adenoid cystic esophagus carcinoma|esophageal adenoid cystic cancer|esophagus adenoid cystic carcinoma|adenoid cystic carcinoma, esophagus	http://purl.obolibrary.org/obo/MONDO_0003186	DOID:4878|NCIT:C5342|UMLS:C1333441	
MONDO:0003187	biolink:Disease	Bartholin gland adenoid cystic carcinoma	A carcinoma that arises from the Bartholin gland and is characterized by the presence of islands of uniform malignant cells forming cribriform patterns.	NCIT:C40295|DOID:4879|UMLS:C1511047	mondo.json	major vestibular gland adenoid cystic carcinoma|Bartholin's gland adenoid cystic carcinoma|Bartholin gland adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0003187	UMLS:C1511047|DOID:4879|NCIT:C40295	
MONDO:0003188	biolink:Disease	obsolete juvenile myoclonic epilepsy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003188		
HGNC:29843	biolink:NamedThing	NSMF			mondo.json		http://identifiers.org/hgnc/29843		
MONDO:0003189	biolink:Disease	middle ear adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the middle ear	UMLS:C1334758|DOID:4892|NCIT:C6848	mondo.json	adenocarcinoma of the middle Ear|adenocarcinoma of middle ear|adenocarcinoma of the middle ear|middle ear adenocarcinoma|middle Ear adenocarcinoma|adenocarcinoma of middle Ear	http://purl.obolibrary.org/obo/MONDO_0003189	DOID:4892|NCIT:C6848|UMLS:C1334758	
MONDO:0030729	biolink:Disease	Tessadori-van Haaften neurodevelopmental syndrome 1		OMIM:619758	mondo.json	TEVANED1|Tessadori-van Haaften neurodevelopmental syndrome 1	http://purl.obolibrary.org/obo/MONDO_0030729	https://omim.org/entry/619758	
MONDO:0003182	biolink:Disease	anterior horn disorder	Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis.	SCTID:85672005|DOID:4873|ICD9:335|ICD9:335.9|MESH:D016472	mondo.json	ventral horn of spinal cord disease|disease or disorder of ventral horn of spinal cord|ventral horn of spinal cord disease or disorder|disease of ventral horn of spinal cord|disorder of ventral horn of spinal cord	http://purl.obolibrary.org/obo/MONDO_0003182	DOID:4873	
MONDO:0003183	biolink:Disease	obsolete trachea adenoid cystic carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003183		
MONDO:0003184	biolink:Disease	trachea carcinoma	A carcinoma that arises from epithelial cells of the trachea.	NCIT:C9347|UMLS:C1744708|EFO:1000599|DOID:4876	mondo.json	trachea cancer|cancer of trachea|carcinoma of the trachea|cancer of the trachea|carcinoma of trachea|trachea carcinoma|tracheal carcinoma	http://purl.obolibrary.org/obo/MONDO_0003184	DOID:4876|UMLS:C1744708|NCIT:C9347	
MONDO:0003185	biolink:Disease	adenoid cystic breast carcinoma	An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent.	UMLS:C1332167|ONCOTREE:ACBC|NCIT:C5130|EFO:1000071|DOID:4877	mondo.json	adenoid cystic breast cancer|breast adenoid cystic carcinoma|adenocystic carcinoma of breast|adenoid cystic carcinoma of breast|adenocystic carcinoma of the breast|mammary adenocystic carcinoma|adenocystic breast carcinoma|adenoid cystic carcinoma of the breast|adenoid cystic breast carcinoma|mammary adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0003185	DOID:4877|NCIT:C5130|UMLS:C1332167	
MONDO:0042705	biolink:Disease	prostatic malacoplakia associated with prostatic abscess		UMLS:C2931457|MESH:C537244|GARD:0000149	mondo.json	prostatic malacoplakia with prostatic and seminal vesicle abscess	http://purl.obolibrary.org/obo/MONDO_0042705	UMLS:C2931457|http://identifiers.org/mesh/C537244	gard_rare
MONDO:0003180	biolink:Disease	cutaneous adenocystic carcinoma	A adenoid cystic carcinoma that involves the skin of body.	DOID:4871|SCTID:254711000|UMLS:C0346017|NCIT:C4471	mondo.json	skin of body adenoid cystic carcinoma|adenoid cystic eccrine carcinoma of skin|primary cutaneous adenocystic carcinoma|adenoid cystic eccrine carcinoma (morphologic abnormality)|adenoid cystic skin carcinoma|adenoid cystic cutaneous carcinoma|adenoid cystic carcinoma of skin|adenoid cystic eccrine carcinoma|adenoid cystic carcinoma of the skin	http://purl.obolibrary.org/obo/MONDO_0003180	DOID:4871|http://identifiers.org/snomedct/254711000|UMLS:C0346017|NCIT:C4471	
OIO:SynonymTypeProperty	biolink:NamedThing	synonym_type_property			mondo.json		http://www.geneontology.org/formats/oboInOwl#SynonymTypeProperty		
MONDO:0003181	biolink:Disease	lung adenoid cystic carcinoma	A rare usually indolent lung carcinoma characterized by a cribiform and tubular pattern and the presence of glandular epithelial cells. Clinical symptoms include shortness of breath, cough, wheeze, hemopytsis and chest pain.	DOID:4872|NCIT:C5666|ICD9:162.9|UMLS:C1334439|ONCOTREE:LUACC|SCTID:707466008	mondo.json	pulmonary adenocystic carcinoma|lung adenocystic carcinoma|lung adenoid cystic cancer|adenocystic carcinoma of lung|adenocystic carcinoma of the lung|adenoid cystic carcinoma of the lung|pulmonary adenoid cystic carcinoma|LUACC|adenoid cystic carcinoma of lung|lung adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0003181	DOID:4872|NCIT:C5666|UMLS:C1334439|http://identifiers.org/snomedct/707466008	
HGNC:17866	biolink:NamedThing	HAVCR1			mondo.json		http://identifiers.org/hgnc/17866		
HGNC:17869	biolink:NamedThing	AFF4			mondo.json		http://identifiers.org/hgnc/17869		
MONDO:0015175	biolink:Disease	autoimmune pancreatitis	Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels.	MedDRA:10069002|SCTID:448542008|Orphanet:103919|GARD:0010911|UMLS:C2609129|DOID:0040091	mondo.json	lymphoplasmocytic sclerosing pancreatitis|AIP	http://purl.obolibrary.org/obo/MONDO_0015175	UMLS:C2609129|Orphanet:103919|http://identifiers.org/snomedct/448542008|DOID:0040091	ordo_disease
MONDO:0015174	biolink:Disease	autoimmune enteropathy type 3		Orphanet:103917|UMLS:CN226617	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015174	Orphanet:103917|UMLS:CN226617	ordo_disease
MONDO:0015173	biolink:Disease	obsolete autoimmune enteropathy type 2		Orphanet:103916|UMLS:CN226616	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015173	Orphanet:103916|UMLS:CN226616	ordo_disease
MONDO:0030730	biolink:Disease	Tessadori-van Haaften neurodevelopmental syndrome 2		OMIM:619759	mondo.json	TEVANED2|Tessadori-van Haaften neurodevelopmental syndrome 2	http://purl.obolibrary.org/obo/MONDO_0030730	https://omim.org/entry/619759	
MONDO:0015172	biolink:Disease	obsolete epithelio-exfoliative colitis-deafness syndrome	OBSOLETE. This syndrome is characterised by the association of severe congenital colitis with sensorineural deafness.	UMLS:CN226615|Orphanet:103912	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015172	Orphanet:103912|UMLS:CN226615	
MONDO:0015179	biolink:Disease	intestinal disease due to vitamin absorption anomaly		Orphanet:104004|UMLS:CN197521	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015179	Orphanet:104004|UMLS:CN197521	disease_grouping|ordo_group_of_disorders
MONDO:0015178	biolink:Disease	congenital intestinal transport defect		Orphanet:104003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015178	Orphanet:104003	ordo_group_of_disorders|disease_grouping
MONDO:0015177	biolink:Disease	metaphyseal anadysplasia	Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.	OMIM:309645|ICD9:756.9|SCTID:254085009|GARD:0003562|Orphanet:1040|MESH:C537351|UMLS:C0432226	mondo.json	regressive metaphyseal dysplasia|Maroteaux Verloes Stanescu syndrome|MAD|early-onset regressive form of metaphyseal dysplasia|Maroteaux-Verloes-Stanescu syndrome	http://purl.obolibrary.org/obo/MONDO_0015177	UMLS:C0432226|http://identifiers.org/snomedct/254085009|Orphanet:1040|http://identifiers.org/mesh/C537351	ordo_disease|gard_rare
HGNC:17861	biolink:NamedThing	TRAF3IP1			mondo.json		http://identifiers.org/hgnc/17861		
MONDO:0015176	biolink:Disease	undetermined colitis	Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles CrohnBs disease and ulcerative colitis but that cannot be diagnosed as one of them after examination of an intestinal resection specimen.	Orphanet:103920|ICD10CM:K52.3	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015176	Orphanet:103920	ordo_disease
MONDO:0030736	biolink:Disease	ovarian dysgenesis 10		OMIM:619834	mondo.json	ovarian dysgenesis 10|ODG10	http://purl.obolibrary.org/obo/MONDO_0030736	https://omim.org/entry/619834	
MONDO:0030732	biolink:Disease	spermatogenic failure 69		OMIM:619826	mondo.json	spermatogenic failure 69|SPGF69	http://purl.obolibrary.org/obo/MONDO_0030732	https://omim.org/entry/619826	
MONDO:0015160	biolink:Disease	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Orphanet:102284	mondo.json	MCA/variable MR|multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	Orphanet:102284	ordo_group_of_disorders|disease_grouping
MONDO:0030731	biolink:Disease	aortic aneurysm, familial thoracic 12		OMIM:619825	mondo.json	AAT12|aortic aneurysm, familial thoracic 12	http://purl.obolibrary.org/obo/MONDO_0030731	https://omim.org/entry/619825	
MONDO:0030733	biolink:Disease	spermatogenic failure 70		OMIM:619828	mondo.json	SPGF70|spermatogenic failure 70	http://purl.obolibrary.org/obo/MONDO_0030733	https://omim.org/entry/619828	
MONDO:0003197	biolink:Disease	granular cell carcinoma	An adenocarcinoma characterized by the presence of malignant epithelial cells with granular cytoplasm.	ICDO:8320/3|UMLS:C0205644|DOID:4903|NCIT:C3681	mondo.json	granular cell carcinoma|granular cell adenocarcinoma|granular cell carcinoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003197	DOID:4903|UMLS:C0205644|NCIT:C3681	
HGNC:29853	biolink:NamedThing	HECW2			mondo.json		http://identifiers.org/hgnc/29853		
MONDO:0003198	biolink:Disease	small intestine adenocarcinoma	An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma.	UMLS:C0278803|DOID:4906|Orphanet:104075|SCTID:424440001|NCIT:C7888|EFO:1000532|GARD:0013090	mondo.json	small intestine adenocarcinoma|adenocarcinoma - small intest.|adenocarcinoma of the small instestine|small bowel adenocarcinoma|adenocarcinoma of small bowel|adenocarcinoma of the small bowel|adenocarcinoma of small intestine|small intestinal adenocarcinoma|adenocarcinoma of small instestine|adenocarcinoma of the small intestine	http://purl.obolibrary.org/obo/MONDO_0003198	Orphanet:104075|UMLS:C0278803|DOID:4906|NCIT:C7888|http://identifiers.org/snomedct/424440001	ordo_disease
MONDO:0003199	biolink:Disease	anal carcinoma	A carcinoma that arises from epithelial cells of the anus	DOID:4908|SCTID:448315008|NCIT:C9291|UMLS:C0279637	mondo.json	cancer of the anus|anal carcinoma|anus carcinoma|carcinoma of the anus|carcinoma of anus|anal cancer|Ca anus|cancer of anus	http://purl.obolibrary.org/obo/MONDO_0003199	DOID:4908|http://identifiers.org/snomedct/448315008|NCIT:C9291|UMLS:C0279637	
MONDO:0003193	biolink:Disease	bile duct adenocarcinoma	A carcinoma that arises from glandular epithelial cells of the bile duct	NCIT:C27813|UMLS:C1370800|DOID:4896	mondo.json	bile duct adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003193	DOID:4896|NCIT:C27813|UMLS:C1370800	
MONDO:0003194	biolink:Disease	hemangioma of lung	A hemangioma that involves the lung.	DOID:490	mondo.json	pulmonary hemangioma|lung hemangioma	http://purl.obolibrary.org/obo/MONDO_0003194	DOID:490	
MONDO:0003195	biolink:Disease	peritoneal serous adenocarcinoma	A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary.	NCIT:C40023|DOID:4901|UMLS:C1514429	mondo.json	peritoneum serous adenocarcinoma|primary peritoneal serous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003195	DOID:4901	
HGNC:30829	biolink:NamedThing	TUBB2B			mondo.json		http://identifiers.org/hgnc/30829		
MONDO:0003196	biolink:Disease	appendix carcinoma	A carcinoma that arises from epithelial cells of the vermiform appendix	SCTID:448992002|DOID:4902|NCIT:C9330|UMLS:C0728951	mondo.json	appendix cancer|appendix carcinoma|carcinoma of vermiform appendix|vermiform appendix carcinoma|carcinoma of appendix|Ca appendix|carcinoma of the appendix	http://purl.obolibrary.org/obo/MONDO_0003196	DOID:4902|UMLS:C0728951|http://identifiers.org/snomedct/448992002|NCIT:C9330	
MONDO:0003190	biolink:Disease	middle ear carcinoma	A carcinoma that arises from epithelial cells of the middle ear	DOID:4893|NCIT:C6089|UMLS:C1334760	mondo.json	carcinoma of the middle ear|carcinoma of middle ear|middle Ear carcinoma|carcinoma of middle Ear|carcinoma of the middle Ear|middle ear carcinoma	http://purl.obolibrary.org/obo/MONDO_0003190	UMLS:C1334760|DOID:4893|NCIT:C6089	
MONDO:0003191	biolink:Disease	rete ovarii adenocarcinoma	An exceptionally rare adenocarcinoma that arises from the rete ovarii.	UMLS:C3840223|DOID:4894|NCIT:C40017	mondo.json	rete ovarii adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003191	UMLS:C3840223|NCIT:C40017|DOID:4894	
MONDO:0015169	biolink:Disease	chronic diarrhea due to glucoamylase deficiency	This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency.	SCTID:716277000|Orphanet:103907|UMLS:C4275068	mondo.json	maltase glucoamylase deficiency|maltase-glucoamylase deficiency|chronic diarrhea due to glucoamylase deficiency	http://purl.obolibrary.org/obo/MONDO_0015169	Orphanet:103907|UMLS:C4275068|http://identifiers.org/snomedct/716277000	ordo_disease
MONDO:0042717	biolink:Disease	Saul-Wilkes-Stevenson syndrome		GARD:0000161|MESH:C536617|UMLS:C2931266	mondo.json	Saul Wilkes Stevenson syndrome	http://purl.obolibrary.org/obo/MONDO_0042717	UMLS:C2931266|http://identifiers.org/mesh/C536617	gard_rare
MONDO:0003192	biolink:Disease	rete ovarii neoplasm	A benign or malignant neoplasm that arises from the rete ovarii which is located in the ovarian hilus. It includes adenoma, cystadenoma, cystadenofibroma, and adenocarcinoma.	UMLS:C1514909|NCIT:C40016|DOID:4895	mondo.json	rete ovarii neoplasm (disease)|neoplasm of rete ovarii|rete ovarii tumor|tumor of rete ovarii	http://purl.obolibrary.org/obo/MONDO_0003192	NCIT:C40016|UMLS:C1514909|DOID:4895	
HGNC:17877	biolink:NamedThing	NMNAT1			mondo.json		http://identifiers.org/hgnc/17877		
MONDO:0015164	biolink:Disease	acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent	Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is a subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain).	Orphanet:102379|UMLS:CN197504	mondo.json	AML and myelodysplastic syndromes related to alkylating agent	http://purl.obolibrary.org/obo/MONDO_0015164	Orphanet:102379|UMLS:CN197504	ordo_disease
MONDO:0015163	biolink:Disease	obsolete primary glomerular disease		UMLS:CN197503|Orphanet:102373	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015163	Orphanet:102373|UMLS:CN197503	ordo_group_of_disorders
HGNC:30831	biolink:NamedThing	TDRD7			mondo.json		http://identifiers.org/hgnc/30831		
MONDO:0015162	biolink:Disease	obsolete rare syndromic intellectual disability	OBSOLETE. Rare syndromic intellectual disability.	UMLS:CN226611|Orphanet:102369	mondo.json	rare syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0015162	Orphanet:102369|UMLS:CN226611	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0015161	biolink:Disease	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Orphanet:102285	mondo.json	multiple congenital anomalies without intellectual disability with or without dysmorphism|MCA without intellectual disability	http://purl.obolibrary.org/obo/MONDO_0015161	Orphanet:102285	ordo_group_of_disorders|disease_grouping
MONDO:0015168	biolink:Disease	arthrogryposis multiplex congenita	Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.	GARD:0000777|Orphanet:1037|OMIMPS:617468|MedDRA:10051643	mondo.json	arthrogryposis multiplex congenita|Guerin-Stern syndrome|myodysplasia|rocher-Sheldon syndrome|fibrous ankylosis of multiple joints|congenital arthromyodysplasia|congenital amyoplasia|multiple congenital arthrogryposis|Rossi syndrome|AMC|Arthromyodysplasia congenita|amyoplasia congenita|Guérin-Stern syndrome|Otto syndrome|myodystrophia fetalis deformans	http://purl.obolibrary.org/obo/MONDO_0015168	Orphanet:1037|https://omim.org/phenotypicSeries/PS617468	disease_grouping|ordo_group_of_disorders|clingen
HGNC:17870	biolink:NamedThing	INVS			mondo.json		http://identifiers.org/hgnc/17870		
MONDO:0015167	biolink:Disease	amniotic band syndrome	Amniotic band syndrome (ABS) describes a group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies.	SCTID:440214006|Orphanet:1034|GARD:0000429|NCIT:C84552|MESH:D000652	mondo.json	amniotic band constriction|deformity due to amniotic band|congenital constricting bands|Adam syndrome|amniotic deformity-adhesion-mutilation syndrome|amniotic bands sequence|familial amniotic bands|amniotic bands	http://purl.obolibrary.org/obo/MONDO_0015167	Orphanet:1034|http://identifiers.org/mesh/D000652|NCIT:C84552|http://identifiers.org/snomedct/440214006	disease_grouping|ordo_group_of_disorders
NCIT:C19085	biolink:NamedThing	Sexual Transmission			mondo.json		http://purl.obolibrary.org/obo/NCIT_C19085		
MONDO:0015166	biolink:Disease	acute myeloid leukemia with t(8;21)(q22;q22) translocation		Orphanet:102724	mondo.json	AML with t(8;21)(q22;q22) translocation	http://purl.obolibrary.org/obo/MONDO_0015166	Orphanet:102724	ordo_disease
MONDO:0015165	biolink:Disease	acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor	Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement.	UMLS:CN197505|Orphanet:102381	mondo.json	AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor	http://purl.obolibrary.org/obo/MONDO_0015165	Orphanet:102381|UMLS:CN197505	ordo_disease
MONDO:0030747	biolink:Disease	epidermolysis bullosa, junctional 2B, severe		OMIM:619784	mondo.json	epidermolysis bullosa, junctional 2B, severe|epidermolysis bullosa, junctional 2B, herlitz IIA|JEB2B|epidermolysis bullosa, junctional 2B, generalized severe	http://purl.obolibrary.org/obo/MONDO_0030747	https://omim.org/entry/619784	
MONDO:0030746	biolink:Disease	epidermolysis bullosa, junctional 2A, intermediate		OMIM:619783	mondo.json	epidermolysis bullosa, junctional 2A, non-herlitz IIA|epidermolysis bullosa, junctional 2A, generalized intermediate|JEB2A|epidermolysis bullosa, junctional 2A, intermediate	http://purl.obolibrary.org/obo/MONDO_0030746	https://omim.org/entry/619783	
MONDO:0030749	biolink:Disease	epidermolysis bullosa, junctional 3B, severe		OMIM:619786	mondo.json	epidermolysis bullosa, junctional 3B, severe|epidermolysis bullosa, junctional 3B, herlitz IIA|JEB3B|epidermolysis bullosa, junctional 3B, generalized severe	http://purl.obolibrary.org/obo/MONDO_0030749	https://omim.org/entry/619786	
MONDO:0030748	biolink:Disease	epidermolysis bullosa, junctional 3A, intermediate		OMIM:619785	mondo.json	epidermolysis bullosa, junctional 3A, intermediate|epidermolysis bullosa, junctional 3A, non-herlitz IIA|epidermolysis bullosa, junctional 3A, generalized intermediate|JEB3A	http://purl.obolibrary.org/obo/MONDO_0030748	https://omim.org/entry/619785	
MONDO:0003168	biolink:Disease	cerebellar pilocytic astrocytoma	A WHO Grade 1 astrocytoma which arises in the cerebellum. The tumor is composed of spindle shaped cells with numerous collections of reddish astrocytic fibers called Rosenthal fibers. Over 80% or the cerebellar astrocytomas of childhood are pilocytic. Pilocytic astrocytomas may rarely occur in adults. They are usually treated by surgical resection and in most cases have a favorable prognosis.	NCIT:C6809|DOID:4853|SCTID:277507004|UMLS:C0349620	mondo.json	cerebellum pilocytic astrocytoma|pilocytic astrocytoma of cerebellum|pilocytic astrocytoma of the cerebellum|cerebellar pilocytic astrocytoma	http://purl.obolibrary.org/obo/MONDO_0003168	DOID:4853|http://identifiers.org/snomedct/277507004|UMLS:C0349620|NCIT:C6809	
MONDO:0003169	biolink:Disease	diencephalic astrocytomas	A astrocytoma that involves the diencephalon.	DOID:4855|UMLS:C1333284|NCIT:C5128	mondo.json	astrocytoma of the diencephalon|diencephalon astrocytoma (excluding glioblastoma)|diencephalon astrocytoma|astrocytoma (excluding glioblastoma) of diencephalon|diencephalic astrocytoma|astrocytoma of diencephalon	http://purl.obolibrary.org/obo/MONDO_0003169	UMLS:C1333284|DOID:4855|NCIT:C5128	
MONDO:0054716	biolink:Disease	microcephaly 19, primary, autosomal recessive		UMLS:C4540488|OMIM:617800|DOID:0070281	mondo.json	microcephaly 19, PRIMARY, autosomal recessive|MCPH19|primary autosomal recessive microcephaly 19	http://purl.obolibrary.org/obo/MONDO_0054716	DOID:0070281|https://omim.org/entry/617800|UMLS:C4540488	
MONDO:0003164	biolink:Disease	cauda equina neoplasm	A neoplasm involving a cauda equina.	NCIT:C5479|SCTID:126963001|UMLS:C1263892|DOID:4847	mondo.json	tumor of the Cauda equina|Cauda equina neoplasms|neoplasm of cauda equina|cauda equina neoplasm (disease)|cauda equina tumor|tumor of Cauda equina|tumor of cauda equina|neoplasm of the Cauda equina	http://purl.obolibrary.org/obo/MONDO_0003164	http://identifiers.org/snomedct/126963001|DOID:4847|UMLS:C1263892|NCIT:C5479	
MONDO:0003165	biolink:Disease	cerebellar astrocytoma	Benign and malignant neoplasms of the cerebellum that arise from astrocytes. During childhood the majority are benign pilocytic astrocytomas. In adults both benign and relatively higher grade forms may occur. The most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. Objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. Surgical resection is often curative.	UMLS:C0740480|NCIT:C9475|DOID:4848	mondo.json	cerebellum astrocytoma (excluding glioblastoma)|astrocytoma of cerebellum|astrocytoma, cerebellar|cerebellar astrocytoma|astrocytoma of the cerebellum|cerebellum astrocytoma|astrocytoma (excluding glioblastoma) of cerebellum	http://purl.obolibrary.org/obo/MONDO_0003165	NCIT:C9475|UMLS:C0740480|DOID:4848	
MONDO:0003166	biolink:Disease	obsolete pilocytic astrocytoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003166		
MONDO:0003167	biolink:Disease	obsolete pleomorphic xanthoastrocytoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003167		
MONDO:0003160	biolink:Disease	obsolete sebaceous carcinoma	OBSOLETE. An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0003160		
MONDO:0003161	biolink:Disease	obsolete benign ependymoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003161		
MONDO:0003162	biolink:Disease	obsolete pilomyxoid astrocytoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003162		
MONDO:0003163	biolink:Disease	cauda equina intradural extramedullary astrocytoma		UMLS:C1334254|NCIT:C5408|DOID:4846	mondo.json	intradural extramedullary astrocytic tumor of the Cauda equina|intradural extramedullary astrocytoma of Cauda equina|intradural extramedullary astrocytoma of the Cauda equina|intradural extramedullary Cauda equina astrocytoma	http://purl.obolibrary.org/obo/MONDO_0003163	DOID:4846|NCIT:C5408|UMLS:C1334254	
MONDO:0042726	biolink:Disease	macrogyria, pseudobulbar palsy and intellectual disability		UMLS:C2931598|MESH:C537722|GARD:0000174	mondo.json	Kuzniecky Andermann syndrome	http://purl.obolibrary.org/obo/MONDO_0042726	http://identifiers.org/mesh/C537722|UMLS:C2931598	gard_rare
MONDO:0042727	biolink:Disease	sacrococcygeal teratoma	A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns.	GARD:0000319|HP:0030736|UMLS:C0559459|SCTID:281561000|Orphanet:494421|NCIT:C99055	mondo.json	pre-sacral teratoma|sacrococcygeal teratoma|presacral teratoma	http://purl.obolibrary.org/obo/MONDO_0042727	http://identifiers.org/snomedct/281561000|Orphanet:494421|NCIT:C99055|UMLS:C0559459	gard_rare
MONDO:0015159	biolink:Disease	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		UMLS:CN228396|Orphanet:102283	mondo.json	multiple congenital anomalies/dysmorphic syndrome-intellectual disability|MCA/MR|multiple congenital anomalies-intellectual disability with or without dysmorphism	http://purl.obolibrary.org/obo/MONDO_0015159	Orphanet:102283|UMLS:CN228396	disease_grouping|ordo_group_of_disorders
MONDO:0015158	biolink:Disease	unexplained periodic fever syndrome		UMLS:CN197498|Orphanet:102237	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015158	Orphanet:102237|UMLS:CN197498	disease_grouping|ordo_group_of_disorders
SO:0001508	biolink:SequenceFeature	alteration_attribute	An attribute of alteration of one or more chromosomes.		mondo.json	alteration attribute	http://purl.obolibrary.org/obo/SO_0001508		
SO:0001507	biolink:SequenceFeature	variant_collection	A collection of one or more sequences of an individual.		mondo.json	variant collection	http://purl.obolibrary.org/obo/SO_0001507		
MONDO:0042724	biolink:Disease	macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations		GARD:0000172	mondo.json	Volcke Soekarman syndrome	http://purl.obolibrary.org/obo/MONDO_0042724		gard_rare
SO:0001509	biolink:SequenceFeature	chromosomal_variation_attribute	An attribute of a change in the structure or number of a chromosomes.		mondo.json	chromosomal variation attribute	http://purl.obolibrary.org/obo/SO_0001509		
SO:0001504	biolink:SequenceFeature	assortment_derived_variation	A chromosome variation derived from an event during meiosis.		mondo.json	assortment derived variation	http://purl.obolibrary.org/obo/SO_0001504		
MONDO:0015153	biolink:Disease	obsolete autosomal monosomy		Orphanet:102020|ICD10CM:Q93.3	mondo.json	autosomal deletion	http://purl.obolibrary.org/obo/MONDO_0015153	Orphanet:102020	disease_grouping|ordo_group_of_disorders
MONDO:0030750	biolink:Disease	epidermolysis bullosa, junctional 4, intermediate		OMIM:619787	mondo.json	epidermolysis bullosa, junctional, localisata variant|epidermolysis bullosa, junctional 4, intermediate|epidermolysis bullosa, junctional 4, non-herlitz IIA|JEB4|epidermolysis bullosa, generalized atrophic benign	http://purl.obolibrary.org/obo/MONDO_0030750	https://omim.org/entry/619787	
MONDO:0015152	biolink:Disease	autosomal recessive limb-girdle muscular dystrophy	Autosomal recessive form of limb-girdle muscular dystrophy.	OMIMPS:253600|UMLS:C2931907|MESH:C538640|Orphanet:102015|DOID:0110274	mondo.json	limb-girdle muscular dystrophy, autosomal recessive|muscular dystrophy, limb-girdle, autosomal recessive|autosomal recessive limb-girdle muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0015152	http://identifiers.org/mesh/C538640|DOID:0110274|https://omim.org/phenotypicSeries/PS253600|Orphanet:102015|UMLS:C2931907	ordo_group_of_disorders|disease_grouping
MONDO:0015151	biolink:Disease	muscular dystrophy, limb-girdle, autosomal dominant	Autosomal dominant form of limb-girdle muscular dystrophy.	OMIMPS:603511|UMLS:CN043626|UMLS:CN228919|Orphanet:102014|DOID:0110273	mondo.json	muscular dystrophy, limb-girdle, autosomal dominant|autosomal dominant limb-girdle muscular dystrophy|limb-girdle muscular dystrophy, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0015151	UMLS:CN043626|DOID:0110273|https://omim.org/phenotypicSeries/PS603511|Orphanet:102014|UMLS:CN228919	disease_grouping|ordo_group_of_disorders
OBO:ECTO_0000496	biolink:NamedThing	exposure to alkylating agent	An exposure to alkylating agent.		mondo.json	exposure to alkylating agent	http://purl.obolibrary.org/obo/ECTO_0000496		
SO:0001506	biolink:SequenceFeature	variant_genome	A collection of sequences (often chromosomes) of an individual.		mondo.json	variant genome	http://purl.obolibrary.org/obo/SO_0001506		
MONDO:0015150	biolink:Disease	complex hereditary spastic paraplegia	A hereditary spastic paraplegia that is part of a larger syndrome.	UMLS:CN197491|Orphanet:102013|UMLS:C0393556|SCTID:230261006	mondo.json	complicated familial spastic paraplegia|complicated HSP|syndrome associated with hereditary spastic paraplegia|Complex SPG|syndromic hereditary spastic paraplegia|Complex familial spastic paraplegia|complicated hereditary spastic paraplegia|Complex HSP|complicated SPG	http://purl.obolibrary.org/obo/MONDO_0015150	http://identifiers.org/snomedct/230261006|Orphanet:102013|UMLS:CN197491|UMLS:C0393556	disease_grouping|ordo_group_of_disorders
MONDO:0015157	biolink:Disease	human herpesvirus 8-related tumor		UMLS:CN226610|Orphanet:102024	mondo.json	HHV-8-related disorder	http://purl.obolibrary.org/obo/MONDO_0015157	UMLS:CN226610|Orphanet:102024	ordo_group_of_disorders|disease_grouping
SO:0001500	biolink:SequenceFeature	heritable_phenotypic_marker	A biological_region characterized as a single heritable trait in a phenotype screen. The heritable phenotype may be mapped to a chromosome but generally has not been characterized to a specific gene locus.		mondo.json	phenotypic marker|heritable phenotypic marker	http://purl.obolibrary.org/obo/SO_0001500		
MONDO:0015156	biolink:Disease	obsolete typhus-group rickettsiosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015156		
MONDO:0015155	biolink:Disease	obsolete spotted fever rickettsiosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015155		
MONDO:0015154	biolink:Disease	obsolete rickettsial disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015154		
MONDO:0054701	biolink:Disease	Kleefstra syndrome 2		DOID:0080598|OMIM:617768	mondo.json	KLEFS2|Kleefstra syndrome 2	http://purl.obolibrary.org/obo/MONDO_0054701	DOID:0080598|https://omim.org/entry/617768	
MONDO:0054700	biolink:Disease	proteasome-associated autoinflammatory syndrome 2		UMLS:CN252342|OMIM:618048	mondo.json	proteasome-associated autoinflammatory syndrome 2|PRAAS2	http://purl.obolibrary.org/obo/MONDO_0054700	https://omim.org/entry/618048|UMLS:CN252342	
MONDO:0003179	biolink:Disease	obsolete lacrimal gland adenoid cystic carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003179		
NCBITaxon:10566	biolink:OrganismalEntity	Human papillomavirus		GC_ID:1	mondo.json	human papillomavirus HPV|Human Papilloma Virus	http://purl.obolibrary.org/obo/NCBITaxon_10566		
HGNC:30802	biolink:NamedThing	PNPLA2			mondo.json		http://identifiers.org/hgnc/30802		
MONDO:0030756	biolink:Disease	Stuve-Wiedemann syndrome 2		OMIM:619751	mondo.json	STWS2|Stuve-Wiedemann syndrome 2	http://purl.obolibrary.org/obo/MONDO_0030756	https://omim.org/entry/619751	
HGNC:30800	biolink:NamedThing	TMIE			mondo.json		http://identifiers.org/hgnc/30800		
MONDO:0003175	biolink:Disease	salivary gland adenoid cystic carcinoma	An adenoid cystic carcinoma arising from the salivary gland. It is characterized by the presence of epithelial and myoepithelial cells forming tubular, cribriform, and solid patterns. It usually presents as a slow growing mass. Patients may experience pain because of the tumor propensity for perineural invasion. The tumor may follow an aggressive clinical course with recurrences and mestastases to distant sites including lungs, bones, brain, and liver.	DOID:4866|GARD:0012346|NCIT:C8026|UMLS:C0279751|SCTID:422833009	mondo.json	salivary gland adenoid cystic carcinoma|adenoid cystic cancer|salivary gland adenoid cystic cancer|saliva-secreting gland adenoid cystic carcinoma|cylindroma (morphologic abnormality)|adenoid cystic carcinoma of salivary gland|adenoid cystic carcinoma of the salivary gland|adenoid cystic carcinoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003175	UMLS:C0279751|NCIT:C8026|DOID:4866|http://identifiers.org/snomedct/422833009	
MONDO:0003176	biolink:Disease	obsolete cervical adenoid cystic carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003176		
MONDO:0003177	biolink:Disease	prostate adenoid cystic carcinoma	An adenoid cystic carcinoma that arises from the prostate gland.	UMLS:C1335502|NCIT:C5539|DOID:4868	mondo.json	prostate adenoid cystic carcinoma|prostate gland adenoid cystic carcinoma|adenoid cystic carcinoma of prostate|adenoid cystic carcinoma of the prostate	http://purl.obolibrary.org/obo/MONDO_0003177	DOID:4868|NCIT:C5539|UMLS:C1335502	
MONDO:0054708	biolink:Disease	retinitis pigmentosa 80		OMIM:617781	mondo.json	RP80|RETINITIS pigmentosa 80	http://purl.obolibrary.org/obo/MONDO_0054708	https://omim.org/entry/617781	
MONDO:0003178	biolink:Disease	obsolete laryngeal adenoid cystic carcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003178		
MONDO:0003171	biolink:Disease	pineal gland astrocytoma	A astrocytoma that involves the pineal body.	UMLS:C0280795|DOID:4858|NCIT:C8274	mondo.json	astrocytoma (excluding glioblastoma) of pineal body|pineal body astrocytoma|astrocytoma of pineal gland|pineal body astrocytoma (excluding glioblastoma)|astrocytoma of the pineal gland|pineal astrocytic tumor|pineal astrocytoma	http://purl.obolibrary.org/obo/MONDO_0003171	NCIT:C8274|DOID:4858|UMLS:C0280795	
MONDO:0003172	biolink:Disease	glomeruloid hemangioma		UMLS:C1304511|DOID:486|NCIT:C27505|SCTID:403976007	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003172	DOID:486|http://identifiers.org/snomedct/403976007|NCIT:C27505|UMLS:C1304511	
MONDO:0003173	biolink:Disease	brain stem astrocytic neoplasm	An astrocytoma that arises from the brain stem.	DOID:4860|UMLS:C1332608|SCTID:107581000119103|NCIT:C7445	mondo.json	brainstem astrocytoma|astrocytoma (excluding glioblastoma) of brainstem|brainstem astrocytoma (excluding glioblastoma)|brain stem astrocytoma	http://purl.obolibrary.org/obo/MONDO_0003173	UMLS:C1332608|DOID:4860|NCIT:C7445|http://identifiers.org/snomedct/107581000119103	
MONDO:0003174	biolink:Disease	spinal cord astrocytoma	A low or high grade astrocytoma that arises in the spinal cord.	DOID:4863|SCTID:254948003|NCIT:C4641|UMLS:C0349540|EFO:1000544	mondo.json	spinal cord astrocytoma (excluding glioblastoma)|astrocytoma of the spinal cord|astrocytoma of spinal cord|astrocytoma (excluding glioblastoma) of spinal cord|spinal astrocytoma|spinal cord astrocytoma	http://purl.obolibrary.org/obo/MONDO_0003174	http://identifiers.org/snomedct/254948003|DOID:4863|UMLS:C0349540|NCIT:C4641	
MONDO:0015149	biolink:Disease	pure hereditary spastic paraplegia		Orphanet:102012|UMLS:C0393555|SCTID:230260007	mondo.json	uncomplicated HSP|Pure SPG|Pure familial spastic paraplegia|uncomplicated hereditary spastic paraplegia|Pure HSP|uncomplicated SPG|uncomplicated familial spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0015149	UMLS:C0393555|http://identifiers.org/snomedct/230260007|Orphanet:102012	ordo_group_of_disorders|disease_grouping
MONDO:0015148	biolink:Disease	lissencephaly type 3		Orphanet:102011	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015148	Orphanet:102011	ordo_group_of_disorders|disease_grouping
MONDO:0003170	biolink:Disease	gliofibroma	An astrocytic tumor affecting young people. Morphologically, it is characterized by the presence of collagenous tissue surrounding neoplastic astrocytes. In some cases the collagen is produced by the tumor cells (desmoplastic astrocytoma), whereas in others it is produced by mesenchymal cells (mixed glioma/fibroma).	UMLS:C1266178|NCIT:C5419|DOID:4856|ICDO:9442/1	mondo.json	gliofibroma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003170	DOID:4856|NCIT:C5419|UMLS:C1266178	
MONDO:0015147	biolink:Disease	obsolete other syndrome with lissencephaly as a major feature		Orphanet:102010|UMLS:CN197489	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015147	Orphanet:102010|UMLS:CN197489	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0015142	biolink:Disease	obsolete ataxia syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015142		
MONDO:0015141	biolink:Disease	disorder of medulla oblongata	A disease that involves the medulla oblongata.	UMLS:CN197487|Orphanet:102000	mondo.json	medullar disease|medulla oblongata disease|medulla oblongata disease or disorder|disorder of medulla oblongata|disease of medulla oblongata|disease or disorder of medulla oblongata	http://purl.obolibrary.org/obo/MONDO_0015141	Orphanet:102000|UMLS:CN197487	disease_grouping|ordo_group_of_disorders
MONDO:0015140	biolink:Disease	early-onset autosomal dominant Alzheimer disease	A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.	UMLS:CN043596|GARD:0012798|Orphanet:1020	mondo.json	early-onset, autosomal dominant Alzheimer disease|EOFAD|early-onset familial autosomal dominant Alzheimer disease	http://purl.obolibrary.org/obo/MONDO_0015140	Orphanet:1020|UMLS:CN043596	ordo_disease|clingen|gard_rare
MONDO:0015146	biolink:Disease	classic lissencephaly		Orphanet:102009|GARD:0005049	mondo.json	lissencephaly type 1|lissencephaly sequence isolated|lissencephaly classic|ILS	http://purl.obolibrary.org/obo/MONDO_0015146	Orphanet:102009	disease_grouping|ordo_group_of_disorders
MONDO:0015145	biolink:Disease	neurovascular malformation		Orphanet:102006	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015145	Orphanet:102006	disease_grouping|ordo_group_of_disorders
MONDO:0015144	biolink:Disease	brain inflammatory disease	An inflammatory disease involving a pathogenic inflammatory response in the brain.	UMLS:CN197488|Orphanet:102005	mondo.json	inflammation of brain|brain inflammation	http://purl.obolibrary.org/obo/MONDO_0015144	Orphanet:102005|UMLS:CN197488	ordo_group_of_disorders|disease_grouping
MONDO:0015143	biolink:Disease	obsolete rare movement disorder	OBSOLETE. Rare movement disorder.	Orphanet:102003	mondo.json	rare movement disorder	http://purl.obolibrary.org/obo/MONDO_0015143	Orphanet:102003	ordo_group_of_disorders|disease_grouping|obsoletion_candidate
MONDO:0005725	biolink:Disease	cyclosporiasis	A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain.	DOID:12750|MESH:D021866|SCTID:716860005|GARD:0009528|ICD10CM:A07.4|UMLS:C4274225|SCTID:240372001|UMLS:C0343398|NCIT:C128409|ICD9:007.5|Orphanet:210|EFO:0007230|ICD10CM:A07.3	mondo.json	infection of intestine caused by Cyclospora cayetanensis|Cyclospora cayetanensis disease or disorder|cyclosporosis|Cyclospora infectious disease|Cyclospora caused disease or disorder|intestinal infection caused by Cyclospora cayetanensis|Cyclospora infection|Cyclospora disease or disorder|Cyclospora cayetanensis infectious disease|Cyclospora cayetanensis caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005725	http://purl.bioontology.org/ontology/ICD10CM/A07.4|http://identifiers.org/snomedct/240372001|Orphanet:210|UMLS:C0343398|NCIT:C128409|http://identifiers.org/snomedct/716860005|DOID:12750|http://identifiers.org/mesh/D021866|UMLS:C4274225	ordo_disease
MONDO:0005724	biolink:Disease	cryptococcosis	An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004	ICD9:117.5|NCIT:C2967|Orphanet:1546|SCTID:42386007|EFO:0007229|GARD:0006218|UMLS:C0010414|ICD10CM:B45|MESH:D003453|DOID:12053|MedDRA:10011490	mondo.json	European cryptococcosis|Cryptococcus neoformans caused disease or disorder|Busse-Buschke's disease|torulosis|Cryptococcal infection|torula|Cryptococcus neoformans disease or disorder|cryptococcus neoformans infection|Cryptococcus neoformans infectious disease	http://purl.obolibrary.org/obo/MONDO_0005724	NCIT:C2967|Orphanet:1546|http://purl.bioontology.org/ontology/ICD10CM/B45|http://identifiers.org/snomedct/42386007|DOID:12053|UMLS:C0010414|http://identifiers.org/mesh/D003453	ordo_disease|gard_rare
MONDO:0005727	biolink:Disease	obsolete cystoisosporiasis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005727		
MONDO:0005726	biolink:Disease	obsolete cysticercosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005726		
MONDO:0005721	biolink:Disease	coxsackievirus infectious disease	A heterogeneous group of infections produced by coxsackieviruses, including herpangina, aseptic meningitis (meningitis, aseptic), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (pleurodynia, epidemic) and a serious myocarditis.	DOID:10545|MESH:D003384|EFO:0007226|UMLS:C0010246	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005721	UMLS:C0010246|http://identifiers.org/mesh/D003384	
MONDO:0005720	biolink:Disease	cowpox	A mild, eruptive skin disease of milk cows caused by cowpox virus, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal.	DOID:8956|SCTID:70090004|EFO:0007225|UMLS:C0010232|MESH:D015605|ICD9:051.01|ICD10CM:B08.010	mondo.json	yaba	http://purl.obolibrary.org/obo/MONDO_0005720	UMLS:C0010232|http://purl.bioontology.org/ontology/ICD10CM/B08.010|http://identifiers.org/snomedct/70090004|DOID:8956|http://identifiers.org/mesh/D015605	
MONDO:0005723	biolink:Disease	Cryptococcal meningitis	Meningeal inflammation produced by cryptococcus neoformans, an encapsulated yeast that tends to infect individuals with acquired immunodeficiency syndrome and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature headache; nausea; photophobia; focal neurologic deficits; seizures; cranial neuropathies; and hydrocephalus. (From Adams et al., Principles of Neurology, 6th ed, pp721-2)	DOID:0080159|EFO:0007228|MESH:D016919|SCTID:14232007|ICD9:321.0	mondo.json	Cryptococcus neoformans caused infectious meningitis|Cryptococcus neoformans infectious meningitis	http://purl.obolibrary.org/obo/MONDO_0005723	DOID:0080159|http://identifiers.org/snomedct/14232007|http://identifiers.org/mesh/D016919	
MONDO:0005722	biolink:Disease	croup	Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor.	SCTID:71186008|NCIT:C26735|UMLS:C0010380|MESH:D003440|EFO:0007227|ICD9:464.4|DOID:9395	mondo.json	acute obstructive laryngitis|croup syndrome|acute laryngotracheitis|acute laryngotracheobronchitis	http://purl.obolibrary.org/obo/MONDO_0005722	http://identifiers.org/snomedct/71186008|UMLS:C0010380|DOID:9395|NCIT:C26735|http://identifiers.org/mesh/D003440	
GO:1902931	biolink:NamedThing	negative regulation of alcohol biosynthetic process	Any process that stops, prevents or reduces the frequency, rate or extent of alcohol biosynthetic process.		mondo.json	downregulation of alcohol formation|down-regulation of alcohol anabolism|negative regulation of alcohol anabolism|negative regulation of solventogenesis|down regulation of alcohol anabolism|down-regulation of alcohol synthesis|negative regulation of alcohol synthesis|downregulation of alcohol biosynthesis|downregulation of alcohol biosynthetic process|inhibition of alcohol anabolism|downregulation of alcohol anabolism|down regulation of alcohol synthesis|negative regulation of alcohol formation|down-regulation of alcohol formation|down regulation of alcohol biosynthesis|down regulation of alcohol biosynthetic process|inhibition of alcohol biosynthesis|inhibition of alcohol biosynthetic process|down regulation of alcohol formation|inhibition of alcohol synthesis|downregulation of alcohol synthesis|negative regulation of alcohol biosynthesis|down-regulation of alcohol biosynthetic process|down-regulation of alcohol biosynthesis|inhibition of alcohol formation	http://purl.obolibrary.org/obo/GO_1902931		
GO:1902932	biolink:NamedThing	positive regulation of alcohol biosynthetic process	Any process that activates or increases the frequency, rate or extent of alcohol biosynthetic process.		mondo.json	up-regulation of alcohol formation|up regulation of alcohol synthesis|positive regulation of solventogenesis|upregulation of alcohol anabolism|positive regulation of alcohol synthesis|positive regulation of alcohol biosynthesis|activation of alcohol synthesis|up regulation of alcohol formation|up regulation of alcohol biosynthetic process|up regulation of alcohol biosynthesis|positive regulation of alcohol formation|activation of alcohol formation|upregulation of alcohol synthesis|up-regulation of alcohol biosynthetic process|up-regulation of alcohol biosynthesis|activation of alcohol biosynthesis|activation of alcohol biosynthetic process|upregulation of alcohol formation|up-regulation of alcohol anabolism|up regulation of alcohol anabolism|up-regulation of alcohol synthesis|positive regulation of alcohol anabolism|upregulation of alcohol biosynthetic process|upregulation of alcohol biosynthesis|activation of alcohol anabolism	http://purl.obolibrary.org/obo/GO_1902932		
GO:1902930	biolink:NamedThing	regulation of alcohol biosynthetic process	Any process that modulates the frequency, rate or extent of alcohol biosynthetic process.		mondo.json	regulation of alcohol anabolism|regulation of alcohol biosynthesis|regulation of solventogenesis|regulation of alcohol synthesis|regulation of alcohol formation	http://purl.obolibrary.org/obo/GO_1902930		
MONDO:0017707	biolink:Disease	obsolete disorder of lipid metabolism			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017707		
MONDO:0017708	biolink:Disease	mevalonate kinase deficiency		MedDRA:10072221|Orphanet:309025|MESH:D054078	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017708	http://identifiers.org/mesh/D054078|Orphanet:309025	disease_grouping|ordo_group_of_disorders
MONDO:0017709	biolink:Disease	disorder of lipid absorption and transport		Orphanet:309028|UMLS:CN227181	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017709	UMLS:CN227181|Orphanet:309028	disease_grouping|ordo_group_of_disorders
MONDO:0017714	biolink:Disease	acyl-CoA dehydrogenase deficiency		Orphanet:309120|SCTID:82319005|UMLS:C0268635	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017714	http://identifiers.org/snomedct/82319005|Orphanet:309120|UMLS:C0268635	disease_grouping|ordo_group_of_disorders
CL:0002022	biolink:Cell	Ly-76 high positive erythrocyte	An enucleate erythrocyte that is Lyg-76-high.		mondo.json		http://purl.obolibrary.org/obo/CL_0002022		
MONDO:0017715	biolink:Disease	3-hydroxyacyl-CoA dehydrogenase deficiency		OMIM:231530|MESH:C535310|Orphanet:309127	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017715	http://identifiers.org/mesh/C535310|Orphanet:309127	disease_grouping|ordo_group_of_disorders
MONDO:0017716	biolink:Disease	disorder of carnitine cycle and carnitine transport		Orphanet:309130|UMLS:CN227184	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017716	UMLS:CN227184|Orphanet:309130	disease_grouping|ordo_group_of_disorders
CL:0002024	biolink:Cell	Kit-positive megakaryocyte progenitor cell	A megakaryocyte progenitor cell that is Kit-positive, CD41-positive, CD9-positive, Sca-1-negative, IL7ralpha-negative, CD150-negative, and Fcgamma receptor II/III-low.		mondo.json		http://purl.obolibrary.org/obo/CL_0002024		
MONDO:0017717	biolink:Disease	obsolete metabolic disease due to other fatty acid oxidation disorder		UMLS:CN203613|Orphanet:309133	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017717	UMLS:CN203613|Orphanet:309133	ordo_group_of_disorders
MONDO:0017710	biolink:Disease	congenital systemic veins anomaly		Orphanet:3091	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017710	Orphanet:3091	disease_grouping|ordo_group_of_disorders
CL:0002027	biolink:Cell	CD9-positive, CD41-positive megakaryocyte cell	A megakaryocyte cell with is CD9-positive and CD41-positive.		mondo.json		http://purl.obolibrary.org/obo/CL_0002027		
GO:0071407	biolink:NamedThing	cellular response to organic cyclic compound	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus.		mondo.json	cellular response to organic cyclic substance	http://purl.obolibrary.org/obo/GO_0071407		
MONDO:0017711	biolink:Disease	pancreatic colipase deficiency		ICD9:277.89|UMLS:C0268241|Orphanet:309108|ICD10CM:K90.3|SCTID:69478001	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017711	http://identifiers.org/snomedct/69478001|Orphanet:309108|UMLS:C0268241	ordo_disease
MONDO:0017712	biolink:Disease	combined pancreatic lipase-colipase deficiency	A disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.	Orphanet:309111|ICD10CM:K90.3	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017712	Orphanet:309111	ordo_disease
CL:0002029	biolink:Cell	Fc-epsilon RIalpha-low mast cell progenitor	A lineage-negative, Kit-positive, CD45-positive mast cell progenitor that is Fc-epsilon RIalpha-low.		mondo.json		http://purl.obolibrary.org/obo/CL_0002029		
CL:0002028	biolink:Cell	basophil mast progenitor cell	A cell type that can give rise to basophil and mast cells. This cell is CD34-positive, CD117-positive, CD125-positive, FceRIa-negative, and T1/ST2-negative, and expresses Gata-1, Gata-2, C/EBPa		mondo.json	BMCP	http://purl.obolibrary.org/obo/CL_0002028		
MONDO:0017713	biolink:Disease	disorder of fatty acid oxidation and ketogenesis		Orphanet:309115|UMLS:CN227183	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017713	Orphanet:309115|UMLS:CN227183	disease_grouping|ordo_group_of_disorders
HGNC:17820	biolink:NamedThing	NT5C3A			mondo.json		http://identifiers.org/hgnc/17820		
MONDO:0005718	biolink:Disease	Coronaviridae infectious disease	Virus diseases caused by coronaviridae.	UMLS:C0010078|EFO:0007223	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005718	UMLS:C0010078	
MONDO:0005717	biolink:Disease	contagious pustular dermatitis	An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to humans.	MESH:D004474|DOID:8771|ICD9:051.2|UMLS:C0013570|EFO:0007222|SCTID:74050005	mondo.json	Orf|scabby mouth|thistle disease|ecthyma contagiosum|ecthyma, Contagious|sheep pox	http://purl.obolibrary.org/obo/MONDO_0005717	http://identifiers.org/mesh/D004474|DOID:8771|http://identifiers.org/snomedct/74050005|UMLS:C0013570	
SO:0001524	biolink:SequenceFeature	chromosomally_aberrant_genome	When a genome contains an abnormal amount of chromosomes.		mondo.json	chromosomally aberrant genome	http://purl.obolibrary.org/obo/SO_0001524		
CL:0002021	biolink:Cell	GlyA-positive erythrocyte	An enucleate erythrocyte that is GlyA-positive.		mondo.json		http://purl.obolibrary.org/obo/CL_0002021		
CL:0002020	biolink:Cell	GlyA-positive reticulocytes	A reticulocyte that is GlyA-positive.		mondo.json		http://purl.obolibrary.org/obo/CL_0002020		
MONDO:0005719	biolink:Disease	Coronavinae infectious disease	Virus diseases caused by the coronavirus genus. Some specifics include transmissible enteritis of turkeys (enteritis, transmissible, of turkeys); feline infectious peritonitis; and transmissible gastroenteritis of swine (gastroenteritis, transmissible, of swine).	MESH:D018352|EFO:0007224	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005719	http://identifiers.org/mesh/D018352	
MONDO:0005736	biolink:Disease	eastern equine encephalitis	Eastern equine encephalitis (EEE) is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality.	GARD:0010821|MedDRA:10014587|Orphanet:83594|DOID:10841|EFO:0007242|ICD10CM:A83.2|ICD9:062.2|MESH:D020242|UMLS:C0153065	mondo.json	Neuroinvasive Eastern equine encephalitis virus infection|EEE|Eastern equine encephalomyelitis	http://purl.obolibrary.org/obo/MONDO_0005736	Orphanet:83594|UMLS:C0153065|http://identifiers.org/mesh/D020242|http://purl.bioontology.org/ontology/ICD10CM/A83.2|DOID:10841	gard_rare|ordo_disease
MONDO:0005735	biolink:Disease	obsolete dracunculiasis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005735		
MONDO:0005738	biolink:Disease	echinococcosis	A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock.	ICD9:122|ICD9:122.9|MESH:D004443|SCTID:74942003|UMLS:C0013502|DOID:1496|EFO:0007245|NCIT:C84682	mondo.json	echinococcosis, unspecified, of liver|echinococciasis|Echinococcus disease or disorder|hydatidosis|echinococcus disease|liver echinococcus|echinococcosis of liver|hydatid disease|hepatic echinococcosis|Echinococcus infectious disease|pulmonary echinococcosis|echinococcosis|Echinococcus caused disease or disorder|echinococcal disease	http://purl.obolibrary.org/obo/MONDO_0005738	http://identifiers.org/snomedct/74942003|UMLS:C0013502|DOID:1496|http://identifiers.org/mesh/D004443|NCIT:C84682	
NCBITaxon:600669	biolink:OrganismalEntity	Nakaseomyces/Candida clade		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_600669		
CHEBI:25741	biolink:ChemicalSubstance	oxide	An oxide is a chemical compound of oxygen with other chemical elements.		mondo.json	oxide|oxides	http://purl.obolibrary.org/obo/CHEBI_25741		
MONDO:0005737	biolink:Disease	Ebola hemorrhagic fever	A viral hemorrhagic fever that is caused by the Ebola virus, which is transmitted by contact with infected animals or humans; it is characterized by high fever, unexplained bleeding, and a high mortality rate.	MedDRA:10014071|NCIT:C36171|DOID:4325|Orphanet:319218|GARD:0002035|EFO:0007243|SCTID:37109004|UMLS:C0282687|MESH:D019142	mondo.json	Ebola virus disease|Ebolavirus infectious disease|Ebolavirus disease or disorder|Ebolavirus caused disease or disorder|EHF|Ebola fever|Ebola	http://purl.obolibrary.org/obo/MONDO_0005737	DOID:4325|UMLS:C0282687|http://identifiers.org/mesh/D019142|Orphanet:319218|http://identifiers.org/snomedct/37109004|NCIT:C36171	ordo_disease
MONDO:0005732	biolink:Disease	obsolete diphyllobothriasis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005732		
HGNC:29812	biolink:NamedThing	DCPS			mondo.json		http://identifiers.org/hgnc/29812		
MONDO:0005731	biolink:Disease	dipetalonemiasis	A parasitic infection caused by genus of filarial worms called Dipetalonema. It produces microfilariae in the blood and body fluids.	GARD:0000004|SCTID:15629006|UMLS:C0012517|NCIT:C34540|EFO:0007237|ICD9:125.4|MESH:D004154|DOID:14422	mondo.json	Mansonella perstans infectious disease|Acanthocheilonema perstans infection|Mansonella perstans caused disease or disorder|Acanthocheilonemiasis|Mansonella perstans disease or disorder|Mansonella perstans|infection by Dipetalonema perstans|infection by Dipetalonema perstans (disorder) [ambiguous]|Dipetalonema infections|infection by Dipetalonema|dipetalonemiasis|Dipetalonema infectious disease|Dipetalonema infection	http://purl.obolibrary.org/obo/MONDO_0005731	NCIT:C34540|DOID:14422|UMLS:C0012517|http://identifiers.org/mesh/D004154|http://identifiers.org/snomedct/15629006	gard_rare
MONDO:0005734	biolink:Disease	dourine	A disease of horses and donkeys caused by Trypanosoma equiperdum. The disease occurs in Africa, the Americas, and Asia.	UMLS:C0013076|MESH:D004313|SCTID:15566009|EFO:0007240	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005734	UMLS:C0013076|http://identifiers.org/mesh/D004313|http://identifiers.org/snomedct/15566009	
MONDO:0005733	biolink:Disease	obsolete dirofilariasis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005733		
MONDO:0005730	biolink:Disease	Dictyocaulus infectious disease	Infection with nematodes of the genus dictyocaulus. In deer, cattle, sheep, and horses the bronchi are the site of infestation.	MESH:D004022|EFO:0007235|UMLS:C0012118	mondo.json	infection, Dictyocaulus|Dictyocauliasis|infections, Dictyocaulus|Dictyocaulus infection|Dictyocaulus disease or disorder|Dictyocaulus caused disease or disorder|Dictyocauliases	http://purl.obolibrary.org/obo/MONDO_0005730	UMLS:C0012118|http://identifiers.org/mesh/D004022	
MONDO:0017703	biolink:Disease	disorder of glyoxylate metabolism		Orphanet:308998|UMLS:CN227177	mondo.json	disorder of glyoxylate metabolism	http://purl.obolibrary.org/obo/MONDO_0017703	UMLS:CN227177|Orphanet:308998	disease_grouping|ordo_group_of_disorders
CL:0002034	biolink:Cell	long term hematopoietic stem cell	A hematopoietic stem cell with long term self renewal capability. This cell is Kit-positive, Sca1-positive, CD150-positive, CD90-low, CD34-negative and Flt3-negative.		mondo.json	LT-HSC|LT stem cell	http://purl.obolibrary.org/obo/CL_0002034		
CL:0002033	biolink:Cell	short term hematopoietic stem cell	A hematopoietic stem cell capable of rapid replenishment of myeloerythroid progenitors and limited self renewal capability. This cell is Kit-positive, Sca1-positive, CD34-positive, CD150-positive, and is Flt3-negative.		mondo.json	ST-HSC|ST stem cell	http://purl.obolibrary.org/obo/CL_0002033		
MONDO:0017704	biolink:Disease	familial partial epilepsy	An instance of partial epilepsy that is caused by an inherited modification of the individual's genome.	Orphanet:309|UMLS:CN227178|GARD:0002173	mondo.json	hereditary partial epilepsy|epilepsy, partial, familial	http://purl.obolibrary.org/obo/MONDO_0017704	UMLS:CN227178|Orphanet:309	disease_grouping|ordo_group_of_disorders|gard_rare
CL:0002036	biolink:Cell	Slamf1-positive multipotent progenitor cell	A hematopoietic progenitor that has some limited self-renewal capability. Cells are lin-negative, Kit-positive, CD34-positive, and Slamf1-positive.		mondo.json	KSL cell	http://purl.obolibrary.org/obo/CL_0002036		
MONDO:0017705	biolink:Disease	congenital pulmonary venous return anomaly	Congenital pulmonary venous return anomaly is a cardiac malformation where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC), where all of the pulmonary veins are anomalous.	Orphanet:3090|GARD:0004599	mondo.json	TAPVR|anomalous pulmonary venous return|congenital pulmonary venous connection anomaly|APVR|pulmonary venous return anomaly|scimitar anomaly|scimitar syndrome|TAPVR1|total anomalous pulmonary venous return	http://purl.obolibrary.org/obo/MONDO_0017705	Orphanet:3090	gard_rare|disease_grouping|ordo_group_of_disorders
HGNC:9117	biolink:NamedThing	PMP2			mondo.json		http://identifiers.org/hgnc/9117		
MONDO:0017706	biolink:Disease	disorder of carbohydrate transmembrane transport and absorption		UMLS:CN227180|Orphanet:309001	mondo.json	disorder of carbohydrate absorption and transport	http://purl.obolibrary.org/obo/MONDO_0017706	UMLS:CN227180|Orphanet:309001	disease_grouping|ordo_group_of_disorders
CL:0002035	biolink:Cell	Slamf1-negative multipotent progenitor cell	A hematopoietic progenitor that has restricted self-renewal capability. Cell is Kit-positive, Ly6-positive, CD150-negative and Flt3-negative.		mondo.json		http://purl.obolibrary.org/obo/CL_0002035		
HGNC:9118	biolink:NamedThing	PMP22			mondo.json		http://identifiers.org/hgnc/9118		
MONDO:0017700	biolink:Disease	glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form		UMLS:C1856305|Orphanet:308698	mondo.json	glycogen storage disease type IV, childhood neuromuscular form|GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form|glycogen storage disease type 4, childhood neuromuscular form|GSD type 4, childhood neuromuscular form|GSDIV, childhood neuromuscular form|glycogenosis type IV, childhood neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form|glycogenosis type 4, childhood neuromuscular form|GBE deficiency, childhood neuromuscular form	http://purl.obolibrary.org/obo/MONDO_0017700	UMLS:C1856305|Orphanet:308698	ordo_clinical_subtype
MONDO:0017701	biolink:Disease	glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form		UMLS:CN203601|Orphanet:308712	mondo.json	glycogenosis type 4, adult neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form|GBE deficiency, adult neuromuscular form|GSD due to glycogen branching enzyme deficiency, adult neuromuscular form|glycogen storage disease type IV, adult neuromuscular form|glycogen storage disease type 4, adult neuromuscular form|GSD type 4, adult neuromuscular form|GSDIV, adult neuromuscular form|glycogenosis type IV, adult neuromuscular form	http://purl.obolibrary.org/obo/MONDO_0017701	Orphanet:308712|UMLS:CN203601	ordo_clinical_subtype
MONDO:0017702	biolink:Disease	obsolete glycerol kinase deficiency			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017702		
MONDO:0005729	biolink:Disease	dicrocoeliasis	Infection with flukes of the genus Dicrocoelium.	DOID:1219|MESH:D004011|ICD9:121.8|SCTID:105668007|UMLS:C0012102|EFO:0007234|UMLS:C1737210	mondo.json	disease due to Dicrocoeliidae|Dicrocoelium infectious disease|Dicrocoelium caused disease or disorder|Dicrocoelium disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005729	http://identifiers.org/snomedct/105668007|UMLS:C1737210|UMLS:C0012102|DOID:1219|http://identifiers.org/mesh/D004011	
HGNC:9115	biolink:NamedThing	PMM2			mondo.json		http://identifiers.org/hgnc/9115		
CL:0002030	biolink:Cell	Fc-epsilon RIalpha-high basophil progenitor cell	A lineage negative, Sca1-negative basophil progenitor cell that is Fc epsilon RIalpha-high.		mondo.json		http://purl.obolibrary.org/obo/CL_0002030		
MONDO:0005728	biolink:Disease	diaphragm disorder	A disease involving the diaphragm.	DOID:10481|SCTID:48475001|ICD9:519.4|UMLS:C0152097|EFO:0007233	mondo.json	disease or disorder of diaphragm|diaphragmatic disorder|disease of diaphragm|diaphragm disease or disorder|disorder of diaphragm|diaphragmatic disease|diaphragm disease	http://purl.obolibrary.org/obo/MONDO_0005728	http://identifiers.org/snomedct/48475001|UMLS:C0152097|DOID:10481	
SO:0001510	biolink:SequenceFeature	intrachromosomal	A change in chromosomes that occurs between two separate chromosomes.		mondo.json		http://purl.obolibrary.org/obo/SO_0001510		
CL:0002032	biolink:Cell	hematopoietic oligopotent progenitor cell	A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities.		mondo.json		http://purl.obolibrary.org/obo/CL_0002032		
CL:0002031	biolink:Cell	hematopoietic lineage restricted progenitor cell	A hematopoietic progenitor cell that is capable of developing into only one lineage of hematopoietic cells.		mondo.json		http://purl.obolibrary.org/obo/CL_0002031		
MONDO:0030703	biolink:Disease	autoimmune vasculitis	An autoimmune form of vasculitis.	SCTID:427213005|DOID:0040097|UMLS:C1328843	mondo.json		http://purl.obolibrary.org/obo/MONDO_0030703	DOID:0040097|http://identifiers.org/snomedct/427213005|UMLS:C1328843	
MONDO:0005703	biolink:Disease	obsolete Churg-Strauss syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005703		
CHEBI:25710	biolink:ChemicalSubstance	organophosphorus compound	An organophosphorus compound is formally a compound containing at least one carbon-phosphorus bond, but the term is often extended to include esters and thioesters.		mondo.json	organophosphorus compound|organophosphorus compounds	http://purl.obolibrary.org/obo/CHEBI_25710		
MONDO:0030702	biolink:Disease	autoimmune atherosclerosis	An autoimmune form of atherosclerosis.	DOID:0040096	mondo.json		http://purl.obolibrary.org/obo/MONDO_0030702	DOID:0040096	
MONDO:0005702	biolink:Disease	obsolete chromoblastomycosis	OBSOLETE. A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0005702		
MONDO:0005705	biolink:Disease	clonorchiasis	Infection of the biliary passages with clonorchis sinensis, also called Opisthorchis sinensis. It may lead to inflammation of the biliary tract, proliferation of biliary epithelium, progressive portal fibrosis, and sometimes bile duct carcinoma. Extension to the liver may lead to fatty changes and cirrhosis. (From Dorland, 27th ed)	EFO:0007210|MESH:D003003|ICD9:121.1|SCTID:11938002|ICD10CM:B66.1|UMLS:C0009021|DOID:13767	mondo.json	Oriental liver fluke disease	http://purl.obolibrary.org/obo/MONDO_0005705	http://identifiers.org/mesh/D003003|http://identifiers.org/snomedct/11938002|UMLS:C0009021|http://purl.bioontology.org/ontology/ICD10CM/B66.1|DOID:13767	
MONDO:0030705	biolink:Disease	Trichomonas prostatitis	Infection of the prostate gland caused by Trichomonas vaginalis.	UMLS:C0153315|SCTID:71590000|ICD9:131.03|NCIT:C35176	mondo.json	Trichomonas prostatitis|Trichomonas vaginalis caused prostatitis (disease)|Trichomonas vaginalis prostatitis (disease)|trichomonal prostatitis	http://purl.obolibrary.org/obo/MONDO_0030705	UMLS:C0153315|http://identifiers.org/snomedct/71590000|NCIT:C35176	
MONDO:0005704	biolink:Disease	Ciliophora infectious disease	Infections with protozoa of the phylum ciliophora.	MESH:D016770|EFO:0007209|UMLS:C0085308	mondo.json	Ciliophora disease or disorder|Ciliophora caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005704	http://identifiers.org/mesh/D016770|UMLS:C0085308	
MONDO:0005701	biolink:Disease	chlamydia trachomatis infectious disease	An infection that is caused by Chlamydia trachomatis.	MESH:D002690|NCIT:C34463|EFO:0007205|ICD9:078.88|ICD9:079.88|SCTID:105629000|DOID:11263|ICD9:079.98	mondo.json	Chlamydia trachomatis infectious disease|Chlamydia trachomatis disease or disorder|chlamydia trachomatis infectious disease|Chlamydia trachomatis caused disease or disorder|chlamydial disease|chlamydia|Chlamydial infection	http://purl.obolibrary.org/obo/MONDO_0005701	NCIT:C34463|http://identifiers.org/snomedct/105629000|DOID:11263	
MONDO:0030701	biolink:Disease	autoimmune cardiomyopathy	An autoimmune form of cardiomyopathy.	DOID:0040095	mondo.json		http://purl.obolibrary.org/obo/MONDO_0030701	DOID:0040095	
MONDO:0005700	biolink:Disease	chickenpox	A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications.	UMLS:C0008049|SCTID:38907003|DOID:8659|ICD9:052.9|ICD9:052|EFO:0007204|MESH:D002644|NCIT:C97132	mondo.json	chicken pox|Varicella|chickenpox|chicken pox infection|varicella	http://purl.obolibrary.org/obo/MONDO_0005700	DOID:8659|http://identifiers.org/mesh/D002644|UMLS:C0008049|http://identifiers.org/snomedct/38907003|NCIT:C97132	
MONDO:0030700	biolink:Disease	autoimmune glomerulonephritis	An autoimmune form of glomerulonephritis (disease).	DOID:0040094	mondo.json	autoimmune glomerulonephritis (disease)	http://purl.obolibrary.org/obo/MONDO_0030700	DOID:0040094	
CL:0002009	biolink:Cell	macrophage dendritic cell progenitor	A progenitor cell that can give rise to plasmacytoid and myeloid dendritic cells, and to monocytes and macrophages.		mondo.json	MDP	http://purl.obolibrary.org/obo/CL_0002009		
GO:0046467	biolink:NamedThing	membrane lipid biosynthetic process	The chemical reactions and pathways resulting in the formation of membrane lipids, any lipid found in or associated with a biological membrane.		mondo.json	membrane lipid biosynthesis|membrane lipid anabolism|membrane lipid synthesis|membrane lipid formation	http://purl.obolibrary.org/obo/GO_0046467		
MONDO:0030707	biolink:Disease	Trichomonas balanoposthitis		UMLS:C0341769|NCIT:C35406	mondo.json	Trichomonas balanoposthitis	http://purl.obolibrary.org/obo/MONDO_0030707	UMLS:C0341769|NCIT:C35406	
MONDO:0030706	biolink:Disease	Trichomonas cystitis	An cystitis caused by infection with Trichomonas vaginalis.	UMLS:C0341733|ICD9:131.09|NCIT:C35405|SCTID:197850006	mondo.json	cystitis in trichomoniasis|Trichomonas vaginalis cystitis|Trichomonas vaginalis caused cystitis|trichomonal cystitis|Trichomonas cystitis	http://purl.obolibrary.org/obo/MONDO_0030706	UMLS:C0341733|http://identifiers.org/snomedct/197850006|NCIT:C35405	
MONDO:0030708	biolink:Disease	Trichomonas cervicitis	An cervicitis (disease) caused by infection with Trichomonas vaginalis.	NCIT:C35588	mondo.json	Trichomonas cervicitis|Trichomonas vaginalis cervicitis (disease)|Trichomonas vaginalis caused cervicitis (disease)	http://purl.obolibrary.org/obo/MONDO_0030708	NCIT:C35588	
CL:0002001	biolink:Cell	CD34-positive, CD38-positive granulocyte monocyte progenitor	A granulocyte monocyte progenitor is CD34-positive, CD38-positive, IL-3receptor-alpha-positive and is CD45RA-negative.		mondo.json		http://purl.obolibrary.org/obo/CL_0002001		
CL:0002000	biolink:Cell	Kit-positive erythroid progenitor cell	An erythroid progenitor cell is Kit-positive, Ly6A-negative, CD41-negative, CD127-negative, and CD123-negative. This cell type is also described as being lin-negative, Kit-positive, CD150-negative, CD41-negative, CD105-positive, and FcgR-negative.		mondo.json	c- Kit-positive erythroid progenitor cell	http://purl.obolibrary.org/obo/CL_0002000		
CL:0002003	biolink:Cell	CD34-positive, GlyA-negative erythroid progenitor cell	An erythroid progenitor cell that is CD34-positive and is GlyA-negative.	FMA:83517	mondo.json		http://purl.obolibrary.org/obo/CL_0002003		
CL:0002005	biolink:Cell	CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell	A megakaryocyte erythroid progenitor cell is CD34-positive, CD38-positive and is IL3-receptor alpha-negative and CD45RA-negative.		mondo.json		http://purl.obolibrary.org/obo/CL_0002005		
CL:0002004	biolink:Cell	CD34-negative, GlyA-negative proerythroblast	A proerythoblast that is CD34-negative and GlyA-negative.		mondo.json		http://purl.obolibrary.org/obo/CL_0002004		
HGNC:17800	biolink:NamedThing	FARSB			mondo.json		http://identifiers.org/hgnc/17800		
CL:0002006	biolink:Cell	Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell	A megakaryocyte erythroid progenitor cell that is Kit-positive and is Sca1-negative, CD34-negative, CD90-negative, IL7r-alpha-negative and Fcgr II/III-low.		mondo.json		http://purl.obolibrary.org/obo/CL_0002006		
HGNC:9122	biolink:NamedThing	PMS2			mondo.json		http://identifiers.org/hgnc/9122		
UPHENO:0001001	biolink:NamedThing	phenotype			mondo.json		http://purl.obolibrary.org/obo/UPHENO_0001001		
HGNC:9121	biolink:NamedThing	PMS1			mondo.json		http://identifiers.org/hgnc/9121		
NCBITaxon:480418	biolink:OrganismalEntity	Mycobacterium lepromatosis		PMID:19019760|PMID:25831531|GC_ID:11|PMID:35467405	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_480418		
MONDO:0030714	biolink:Disease	osteogenesis imperfecta, IIA 22		OMIM:619795	mondo.json	osteogenesis imperfecta, IIA 22|OI22	http://purl.obolibrary.org/obo/MONDO_0030714	https://omim.org/entry/619795	
MONDO:0005714	biolink:Disease	congenital syphilis	A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia.	DOID:9856|MESH:D013590|NCIT:C84649|ICD10CM:A50|Orphanet:499009|EFO:0007219|ICD9:090.9|SCTID:35742006|ICD9:090|UMLS:C0039131	mondo.json	MTCT of syphilis|mother-to-child transmission of syphilis|congenital syphilis	http://purl.obolibrary.org/obo/MONDO_0005714	UMLS:C0039131|http://identifiers.org/snomedct/35742006|http://identifiers.org/mesh/D013590|http://purl.bioontology.org/ontology/ICD10CM/A50|Orphanet:499009|DOID:9856|NCIT:C84649	ordo_disease
MONDO:0005713	biolink:Disease	obsolete MONDO:0005713			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005713		
MONDO:0005716	biolink:Disease	contagious pleuropneumonia	A pleuropneumonia of cattle and goats caused by species of mycoplasma.	EFO:0007221|UMLS:C0032243|MESH:D011002	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005716	UMLS:C0032243|http://identifiers.org/mesh/D011002	
MONDO:0030716	biolink:Disease	spermatogenic failure 66		OMIM:619799	mondo.json	SPGF66|spermatogenic failure 66	http://purl.obolibrary.org/obo/MONDO_0030716	https://omim.org/entry/619799	
MONDO:0005715	biolink:Disease	congenital toxoplasmosis	Toxoplasma infection that is present from birth.	EFO:0007220|ICD10CM:P37.1|DOID:13336|GARD:0010326|UMLS:C0040560|Orphanet:858|MedDRA:10010652|MESH:D014125|ICD9:771.2|SCTID:73893000|NCIT:C50503	mondo.json	Toxoplasma embryopathy|toxoplasmosis, congenital|congenital toxoplasmosis|mother-to-child transmission of toxoplasmosis|Toxoplasma embryofetopathy|toxoplasmosis - congen.	http://purl.obolibrary.org/obo/MONDO_0005715	http://identifiers.org/snomedct/73893000|http://identifiers.org/mesh/D014125|http://purl.bioontology.org/ontology/ICD10CM/P37.1|NCIT:C50503|DOID:13336|Orphanet:858|UMLS:C0040560	ordo_disease
MONDO:0005710	biolink:Disease	composite lymphoma	Coexistence of Hodgkin and non-Hodgkin lymphoma in the same anatomic site.	Orphanet:168966|NCIT:C38661|DOID:5820|ICDO:9596/3|UMLS:C0545080|EFO:0007215|MESH:D058617|UMLS:C1266191	mondo.json	composite lymphoma|composite Hodgkin and non-Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0005710	UMLS:C1266191|DOID:5820|UMLS:C0545080|NCIT:C38661|http://identifiers.org/mesh/D058617|Orphanet:168966	ordo_disease
MONDO:0005712	biolink:Disease	congenital nystagmus	Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)	DOID:9649|SCTID:64635004|HP:0000639|OMIMPS:310700|ICD9:379.51|MESH:D020417|Orphanet:651|EFO:0007217|ICD10CM:H55.01	mondo.json	congenital pathologic nystagmus|motor congenital nystagmus|nystagmus, congenital|congenital idiopathic nystagmus|nystagmus	http://purl.obolibrary.org/obo/MONDO_0005712	https://omim.org/phenotypicSeries/PS310700|Orphanet:651|http://purl.bioontology.org/ontology/ICD10CM/H55.01|DOID:9649|http://identifiers.org/snomedct/64635004|http://identifiers.org/mesh/D020417	
MONDO:0030712	biolink:Disease	oculopharyngodistal myopathy 4		OMIM:619790	mondo.json	oculopharyngodistal myopathy 4|OPDM4	http://purl.obolibrary.org/obo/MONDO_0030712	https://omim.org/entry/619790	
MONDO:0005711	biolink:Disease	congenital diaphragmatic hernia	Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.	Orphanet:2140|MESH:D006551|NCIT:C98893|EFO:0007216|DOID:3827|GARD:0001481|MedDRA:10010439|UMLS:C0235833	mondo.json	agenesis of hemidiaphragm|unilateral agenesis of diaphragm|CDH|diaphragmatic hernia|congenital diaphragmatic hernia|congenital diaphragmatic defect	http://purl.obolibrary.org/obo/MONDO_0005711	Orphanet:2140|UMLS:C0235833|DOID:3827|NCIT:C98893	ordo_morphological_anomaly
MONDO:0030711	biolink:Disease	anemia, congenital dyserythropoietic, IIA IIIB, autosomal recessive		OMIM:619789	mondo.json	CDAN3B|anemia, congenital dyserythropoietic, IIA IIIB, autosomal recessive|CDA, IIA IIIB	http://purl.obolibrary.org/obo/MONDO_0030711	https://omim.org/entry/619789	
CL:0002019	biolink:Cell	Ly-76 high reticulocyte	A reticulocyte that is Ly76-high and is Kit-negative.		mondo.json		http://purl.obolibrary.org/obo/CL_0002019		
MONDO:0030718	biolink:Disease	spermatogenic failure 67		OMIM:619803	mondo.json	SPGF67|spermatogenic failure 67	http://purl.obolibrary.org/obo/MONDO_0030718	https://omim.org/entry/619803	
MONDO:0030717	biolink:Disease	immunodeficiency 97 with autoinflammation	An autosomal recessive complex immunologic disorder with variable features. Affected individuals present in the first decade of life with inflammatory interstitial lung disease or colitis due to abnormal tissue infiltration by activated T cells. Patients develop autoimmune cytopenias and may have lymphadenopathy; 1 reported patient had features of hemophagocytic lymphohistiocytosis (HLH). Some patients may have recurrent infections associated with mild lymphopenia, hypogammaglobulinemia, and NK cell dysfunction. Immunologic workup indicates signs of significant immune dysregulation with elevation of inflammatory serum markers, variable immune cell defects involving neutrophils, NK cells, and myeloid cells, and disrupted levels of T regulatory cells (Tregs). Two unrelated patients have been reported.	OMIM:619802	mondo.json	IMD97|immunodeficiency 97 with autoinflammation	http://purl.obolibrary.org/obo/MONDO_0030717	https://omim.org/entry/619802	
GO:0046474	biolink:NamedThing	glycerophospholipid biosynthetic process	The chemical reactions and pathways resulting in the formation of glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue.		mondo.json	glycerophospholipid formation|glycerophospholipid biosynthesis|glycerophospholipid anabolism|glycerophospholipid synthesis|phosphoglyceride biosynthesis|phosphoglyceride biosynthetic process	http://purl.obolibrary.org/obo/GO_0046474		
MONDO:0030719	biolink:Disease	deafness, autosomal dominant 82		OMIM:619804	mondo.json	deafness, autosomal dominant 82|DFNA82	http://purl.obolibrary.org/obo/MONDO_0030719	https://omim.org/entry/619804	
CL:0002012	biolink:Cell	Kit-low proerythroblast	A proerythoblast that is Kit-low, Lyg76-positive, and CD71-positive.		mondo.json		http://purl.obolibrary.org/obo/CL_0002012		
CL:0002014	biolink:Cell	Kit-negative, Ly-76 high basophilic erythroblast	A basophilic erythroblast that is Lyg 76-high and is Kit-negative.		mondo.json		http://purl.obolibrary.org/obo/CL_0002014		
CL:0002013	biolink:Cell	GlyA-positive basophillic erythroblast	A basophilic erythroblast that is GlyA-positive.		mondo.json		http://purl.obolibrary.org/obo/CL_0002013		
CL:0002016	biolink:Cell	CD71-low, GlyA-positive polychromatic erythroblast	A polychromatiic erythroblast that is Gly-A-positive and CD71-low.		mondo.json		http://purl.obolibrary.org/obo/CL_0002016		
CL:0002015	biolink:Cell	Kit-negative, Ly-76 high polychromatophilic erythroblast	A polychromatophilic erythroblast that is Lyg 76-high and is Kit-negative.		mondo.json	late basophilic and polychromatophilic erythroblast	http://purl.obolibrary.org/obo/CL_0002015		
CL:0002018	biolink:Cell	CD71-negative, GlyA-positive orthochromatic erythroblast	An erythroblast that is GlyA-positive and CD71-negative.		mondo.json		http://purl.obolibrary.org/obo/CL_0002018		
GO:0071417	biolink:NamedThing	cellular response to organonitrogen compound	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond.		mondo.json	cellular response to organic nitrogen	http://purl.obolibrary.org/obo/GO_0071417		
CL:0002017	biolink:Cell	Kit-negative, Ly-76 high orthochromatophilic erythroblasts	An orthochromatophilic erythroblast that is ter119-high, CD71-low, and Kit-negative.		mondo.json		http://purl.obolibrary.org/obo/CL_0002017		
MONDO:0005707	biolink:Disease	coccidiosis	A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting.	EFO:0007212|SCTID:62005008|UMLS:C0009187|ICD9:007.2|NCIT:C34493|MESH:D003048|DOID:2113	mondo.json	coccidiosis (& [intestinal])|intestinal coccidiosis	http://purl.obolibrary.org/obo/MONDO_0005707	http://identifiers.org/mesh/D003048|UMLS:C0009187|NCIT:C34493|http://identifiers.org/snomedct/62005008|DOID:2113	
MONDO:0005706	biolink:Disease	coccidioidomycosis	A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease.	SCTID:23247008|EFO:0007211|MESH:D003047|Orphanet:228123|ICD10CM:B38|ICD9:114|UMLS:C0009186|UMLS:C0700644|DOID:13450|NCIT:C84642|MedDRA:10009825|ICD9:114.1|ICD9:114.9|UMLS:CN201384|GARD:0009525	mondo.json	California disease|desert rheumatism|Valley fever|primary extrapulmonary coccidioidomycosis|San Joaquin valley fever|Coccidioides immitis infectious disease|Coccidioides immitis caused disease or disorder|desert fever|Coccidioides immitis disease or disorder|Coccidioides infection	http://purl.obolibrary.org/obo/MONDO_0005706	http://identifiers.org/mesh/D003047|NCIT:C84642|Orphanet:228123|UMLS:C0700644|UMLS:CN201384|UMLS:C0009186|http://identifiers.org/snomedct/23247008|http://purl.bioontology.org/ontology/ICD10CM/B38|DOID:13450	ordo_disease
CHEBI:589779	biolink:ChemicalSubstance	piperidinium	The conjugate acid of piperidine; major species at pH 7.3.		mondo.json	piperidine|piperidinium|piperidinium cation|piperidinium(1+)|hexahydropyridinium	http://purl.obolibrary.org/obo/CHEBI_589779		
MONDO:0005709	biolink:Disease	common cold	An inflammatory process affecting the nasal mucosa, usually caused by viruses (e.g., rhinovirus, adenovirus, parainfluenza virus, and coronavirus). It is characterized by chills, headaches, mucopurulent nasal discharge, coughing, and facial pain.	NCIT:C34500|MESH:D003139|ICD9:460|UMLS:C0009443|DOID:10459|SCTID:82272006|EFO:0007214	mondo.json	acute viral rhinopharyngitis|acute rhinitis|acute nasopharyngitis|acute nasopharyngitis [common cold]|acute coryza|rhino-sinusitis|nasopharyngitis, acute|nasopharyngitis - acute	http://purl.obolibrary.org/obo/MONDO_0005709	http://identifiers.org/mesh/D003139|DOID:10459|UMLS:C0009443|NCIT:C34500|http://identifiers.org/snomedct/82272006	
MONDO:0005708	biolink:Disease	Colorado tick fever	A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the colorado tick fever virus, a reovirus transmitted by the tick Dermacentor andersoni.	ICD10CM:A93.2|SCTID:6452009|UMLS:C0009400|DOID:4885|MedDRA:10010022|Orphanet:83595|ICD9:066.1|MESH:D003121|EFO:0007213	mondo.json	Tick fever, American mountain|Mountain tick fever|Colorado tick fever virus infectious disease|American mountain fever|Mountain fever|Colorado tick fever virus caused disease or disorder|Colorado tick encephalitis|Colorado tick fever virus disease or disorder|Colorado tick-borne disease	http://purl.obolibrary.org/obo/MONDO_0005708	http://purl.bioontology.org/ontology/ICD10CM/A93.2|http://identifiers.org/mesh/D003121|UMLS:C0009400|DOID:4885|http://identifiers.org/snomedct/6452009|Orphanet:83595	ordo_disease
MONDO:0005769	biolink:Disease	geniculate herpes zoster	A viral ear infection caused by the spread of varicella-zoster virus to the facial nerves. It is characterized by intense otalgia and a cutaneous vesicular eruption.	ICD10EXP:G53.0*|ICD10EXP:B02.2+|UMLS:C0017409|GARD:0007525|DOID:9210|UMLS:C0458220|Orphanet:3020|NCIT:C84763|ICD9:351.8|EFO:0007281|SCTID:95670000|ICD9:053.11	mondo.json	Ramsay Hunt syndrome|Hunt syndrome (formerly)|Ramsey Hunt syndrome|herpetic geniculate ganglionitis|facial nerve palsy due to herpes zoster infection|Ramsay Hunt syndrome type 2 (formerly)|Hunt's syndrome (formerly)|Herpes zoster auricularis|facial nerve paralysis due to VZV|Herpes Zoster Oticus|geniculate neuralgia|nervus intermedius neuralgia|facial nerve palsy due to VZV|Ramsay Hunt syndrome type 2|Ramsay Hunt syndrome type II	http://purl.obolibrary.org/obo/MONDO_0005769	UMLS:C0458220|http://identifiers.org/snomedct/95670000|DOID:9210|NCIT:C84763|Orphanet:3020	ordo_disease
MONDO:0003106	biolink:Disease	obsolete verrucous keratotic hemangioma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003106		
MONDO:0005768	biolink:Disease	gastrointestinal tuberculosis	Tuberculosis that involves any region of the gastrointestinal tract, mostly in the distal ileum and the cecum. In most cases, mycobacterium tuberculosis is the pathogen. Clinical features include abdominal pain; fever; and palpable mass in the ileocecal area.	UMLS:C0041312|ICD9:014.86|MESH:D014385|ICD9:014.81|DOID:404|ICD9:014.80|SCTID:186225008|UMLS:C0152717|EFO:0007280	mondo.json	tuberculosis of intestines, peritoneum and mesenteric glands|tuberculosis of gastrointestinal tract|tuberculosis of intestines, peritoneum, and mesenteric glands	http://purl.obolibrary.org/obo/MONDO_0005768	UMLS:C0041312|http://identifiers.org/snomedct/186225008|http://identifiers.org/mesh/D014385|UMLS:C0152717|DOID:404	
MONDO:0003107	biolink:Disease	infratentorial cancer	Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces.	UMLS:C0751593|NCIT:C3139|DOID:4706|NCIT:C4966|MESH:D015192	mondo.json	malignant infratentorial neoplasm|malignant infratentorial tumor|brain neoplasm, infratentorial|infratentorial neoplasms, malignant|malignant infratentorial tumors	http://purl.obolibrary.org/obo/MONDO_0003107	DOID:4706|UMLS:C0751593|http://identifiers.org/mesh/D015192|NCIT:C4966	
GO:0046483	biolink:NamedThing	heterocycle metabolic process	The chemical reactions and pathways involving heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings).		mondo.json	heterocycle metabolism	http://purl.obolibrary.org/obo/GO_0046483		
MONDO:0003108	biolink:Disease	cervicomedullary junction neoplasm		NCIT:C5423|UMLS:C1332923|DOID:4707	mondo.json	neoplasm of the cervicomedullary junction|neoplasm of cervicomedullary junction|tumor of the cervicomedullary junction|cervicomedullary junction tumor|cervicomedullary junction neoplasms|tumor of cervicomedullary junction	http://purl.obolibrary.org/obo/MONDO_0003108	UMLS:C1332923|DOID:4707|NCIT:C5423	
MONDO:0003109	biolink:Disease	foramen magnum meningioma	A meningioma that affects the foramen magnum.	UMLS:C1333630|DOID:4708|NCIT:C5280	mondo.json	meningioma of the Foramen magnum|foramen magnum meningioma (disease)|meningioma (disease) of foramen magnum|meningioma of Foramen magnum	http://purl.obolibrary.org/obo/MONDO_0003109	DOID:4708|NCIT:C5280|UMLS:C1333630	
MONDO:0005765	biolink:Disease	foot and mouth disease	A viral infectious disease that results in infection in cattle and swine, has material basis in foot-and-mouth disease virus, which is transmitted by contaminated fomites, or transmitted by ingestion of food contaminated with infected meat or animal products. The infection results in formation of vesicles in the mouth, or on the feet and has symptom lameness.	EFO:0007277|UMLS:C0016514|MESH:D005536	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005765	http://identifiers.org/mesh/D005536|UMLS:C0016514	
MONDO:0003102	biolink:Disease	obsolete perineurioma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003102		
MONDO:0003103	biolink:Disease	nerve root neoplasm	Benign and malignant neoplasms arising from one or more of the cervical, thoracic, lumbar, sacral, or coccygeal nerve roots. The majority of these tumors are benign. Clinical manifestations may include pain, weakness and loss of sensation along the course of the involved nerve root. Large tumors may cause spinal cord compression.	DOID:4698|UMLS:C1334946|NCIT:C5119	mondo.json	neoplasms, nerve Root|neoplasm of nerve Root|neoplasm of the nerve Root|nerve Root tumor|neoplasm of nerve root|nerve root tumor|nerve Root neoplasms|nerve root neoplasm (disease)|tumor of the nerve Root|tumor of nerve Root|tumor of nerve root|nerve Root tumors	http://purl.obolibrary.org/obo/MONDO_0003103	DOID:4698|NCIT:C5119|UMLS:C1334946	
MONDO:0005764	biolink:Disease	follicular dendritic cell sarcoma	A neoplasm composed of spindle to ovoid cells which have morphologic and immunophenotypic characteristics of follicular dendritic cells. It affects lymph nodes and other sites including the tonsils, gastrointestinal tract, spleen, liver, soft tissues, skin, and oral cavity. It usually behaves as a low grade sarcoma. Treatment options include complete surgical removal of the tumor with or without adjuvant chemotherapy or radiotherapy. Recurrences have been reported in up to half of the cases.	MESH:D054740|ONCOTREE:FDCS|EFO:0007276|UMLS:C1260325|Orphanet:86902|DOID:6262|NCIT:C9281|ICDO:9758/3|ICDO:9758/1	mondo.json	follicular Dendritic cell sarcoma|follicular Dendritic cell sarcoma/tumor|sarcoma of follicular dendritic cell|follicular dendritic cell sarcoma|follicular dendritic cell tumour	http://purl.obolibrary.org/obo/MONDO_0005764	UMLS:C1260325|DOID:6262|NCIT:C9281|Orphanet:86902|http://identifiers.org/mesh/D054740	ordo_disease
HGNC:9141	biolink:NamedThing	PMVK			mondo.json		http://identifiers.org/hgnc/9141		
MONDO:0005767	biolink:Disease	gas gangrene	A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus clostridium. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases.	ICD9:040.0|EFO:0007279|DOID:9159|ICD10CM:A48.0|SCTID:80466000|UMLS:C0017105|MESH:D005738	mondo.json	gas bacillus infection|myonecrosis|gas gangrene	http://purl.obolibrary.org/obo/MONDO_0005767	http://purl.bioontology.org/ontology/ICD10CM/A48.0|UMLS:C0017105|DOID:9159|http://identifiers.org/mesh/D005738|http://identifiers.org/snomedct/80466000	
MONDO:0003104	biolink:Disease	epicardium cancer	A malignant neoplasm involving the epicardium.	NCIT:C4568|UMLS:C2607932|DOID:4699	mondo.json	malignant tumor of the epicardium|malignant epicardium neoplasm|malignant epicardial tumor|malignant neoplasm of the epicardium|malignant epicardial neoplasm|cancer of epicardium|malignant neoplasm of epicardium|epicardium cancer|epicardial tumor|malignant tumor of epicardium	http://purl.obolibrary.org/obo/MONDO_0003104	DOID:4699|NCIT:C4568|UMLS:C2607932	
MONDO:0005766	biolink:Disease	fungal lung infectious disease	Pulmonary diseases caused by fungal infections, usually through hematogenous spread.	EFO:0007278|UMLS:C0024116|MESH:D008172	mondo.json	pulmonary fungal disease|fungal lung disease|Fungi lung disease|fungal diseases, pulmonary|fungal infection, pulmonary|fungal lung diseases|pulmonary fungal diseases|lung disease, fungal|pulmonary fungal infection|Fungi caused lung disease|fungal infections, pulmonary|pulmonary fungal infections|fungal disease, pulmonary	http://purl.obolibrary.org/obo/MONDO_0005766	http://identifiers.org/mesh/D008172|UMLS:C0024116	
MONDO:0003105	biolink:Disease	prostate disorder	A disease involving the prostate gland.	MESH:D011469|ICD9:602.8|ICD9:602.9|NCIT:C26865|UMLS:C0033575|SCTID:30281009|DOID:47	mondo.json	prostate gland disease or disorder|disorder of prostate gland|disease of prostate gland|disease or disorder of prostate gland|prostate disease|prostate gland disease|prostate disorder	http://purl.obolibrary.org/obo/MONDO_0003105	http://identifiers.org/mesh/D011469|NCIT:C26865|UMLS:C0033575|DOID:47|http://identifiers.org/snomedct/30281009	
MONDO:0005761	biolink:Disease	filarial elephantiasis	Parasitic infestation of the human lymphatic system by wuchereria bancrofti or brugia malayi. It is also called lymphatic filariasis.	MESH:D004605|GARD:0003321|SCTID:14100003|NCIT:C128360|ICD9:374.83|SCTID:240820001|EFO:0007272|DOID:12211|MedDRA:10016675|Orphanet:2035	mondo.json	elephantiasis of eyelid|Malayi tropical eosinphilia|elephantiasis|Wuchereriasis|Bancroftian elephantiasis|Bancroftian filariasis|Bancroftian filarial chyluria|Wuchereria Bancrofti infection|eyelid elephantiasis	http://purl.obolibrary.org/obo/MONDO_0005761	http://identifiers.org/mesh/D004605|http://identifiers.org/snomedct/240820001|Orphanet:2035|http://identifiers.org/snomedct/14100003|NCIT:C128360|DOID:12211	ordo_disease
MONDO:0005760	biolink:Disease	obsolete fibroepithelial neoplasm			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005760		
MONDO:0005763	biolink:Disease	Flaviviridae infectious disease	Infections with viruses of the family flaviviridae.	MESH:D018178|EFO:0007274|SCTID:111865007	mondo.json	Flaviviridae disease or disorder|Flaviviridae caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005763	http://identifiers.org/mesh/D018178|http://identifiers.org/snomedct/111865007	
MONDO:0003100	biolink:Disease	nerve plexus neoplasm	A neoplasm (disease) that involves the nerve plexus.	DOID:4693|UMLS:C1334945|NCIT:C5822	mondo.json	nerve plexus neoplasm (disease)|nerve plexus neoplasm|tumor of nerve plexus|neoplasm of the nerve plexus|nerve plexus tumors|neural plexus tumors|nerve plexus neoplasms|neoplasm of nerve plexus|nerve plexus tumor|tumor of the nerve plexus|neural plexus neoplasms	http://purl.obolibrary.org/obo/MONDO_0003100	NCIT:C5822|UMLS:C1334945|DOID:4693	
MONDO:0003101	biolink:Disease	obsolete intraneural perineurioma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003101		
MONDO:0005762	biolink:Disease	Filoviridae infectious disease	Infections with viruses of the family filoviridae. The infections in humans consist of a variety of clinically similar viral hemorrhagic fevers but the natural reservoir host is unknown.	EFO:0007273|UMLS:C0242917|MESH:D018702	mondo.json	Filoviridae caused disease or disorder|Filoviridae disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005762	http://identifiers.org/mesh/D018702|UMLS:C0242917	
GO:0046488	biolink:NamedThing	phosphatidylinositol metabolic process	The chemical reactions and pathways involving phosphatidylinositol, any glycophospholipid in which a sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol.		mondo.json	phosphatidylinositol metabolism|PtdIns metabolic process|phosphoinositide metabolism|phosphoinositide metabolic process|PtdIns metabolism	http://purl.obolibrary.org/obo/GO_0046488		
GO:0046486	biolink:NamedThing	glycerolipid metabolic process	The chemical reactions and pathways involving glycerolipids, any lipid with a glycerol backbone. Diacylglycerol and phosphatidate are key lipid intermediates of glycerolipid biosynthesis.		mondo.json	glycerolipid metabolism	http://purl.obolibrary.org/obo/GO_0046486		
GO:0046485	biolink:NamedThing	ether lipid metabolic process	The chemical reactions and pathways involving ether lipids, lipids that contain (normally) one lipid alcohol in ether linkage to one of the carbon atoms (normally C-1) of glycerol.		mondo.json	ether lipid metabolism|plasmalogen metabolic process	http://purl.obolibrary.org/obo/GO_0046485		
MONDO:0017758	biolink:Disease	disorder of vitamin and non-protein cofactor absorption and transport		UMLS:CN227203|Orphanet:309827	mondo.json	disorder of vitamin and non-protein cofactor absorption and transport	http://purl.obolibrary.org/obo/MONDO_0017758	Orphanet:309827|UMLS:CN227203	ordo_group_of_disorders|disease_grouping
MONDO:0017759	biolink:Disease	disorder of catecholamine synthesis		SCTID:237921002|Orphanet:309830|UMLS:C0342685|ICD9:270.8	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017759	http://identifiers.org/snomedct/237921002|UMLS:C0342685|Orphanet:309830	ordo_group_of_disorders|disease_grouping
MONDO:0017754	biolink:Disease	inborn disorder of porphyrin metabolism	An inherited metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process.	Orphanet:309813|ICD10CM:E80.4|UMLS:C1275125|SCTID:403832004	mondo.json	inborn porphyrin-containing compound metabolic process disorder|rare inborn error of porphyrin-containing compound metabolic process|disorder of porphyrin and haem metabolism|inborn error of porphyrin-containing compound metabolic process|inherited disorder of porphyrin metabolism|inborn disorder of porphyrin and haem metabolism	http://purl.obolibrary.org/obo/MONDO_0017754	UMLS:C1275125|Orphanet:309813|http://identifiers.org/snomedct/403832004	ordo_group_of_disorders|disease_grouping
MONDO:0017755	biolink:Disease	inborn disorder of bilirubin metabolism	An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome.	UMLS:CN227200|Orphanet:309816	mondo.json	hereditary bilirubin metabolism disease|disorder of bilirubin metabolism|bilirubin metabolism disorder|inborn disorder of bilirubin metabolism and excretion|disorder of bilirubin metabolism and excretion	http://purl.obolibrary.org/obo/MONDO_0017755	Orphanet:309816|UMLS:CN227200	disease_grouping|ordo_group_of_disorders
MONDO:0017756	biolink:Disease	disorder of pterin metabolism		UMLS:CN227201|Orphanet:309819	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017756	Orphanet:309819|UMLS:CN227201	disease_grouping|ordo_group_of_disorders
MONDO:0017757	biolink:Disease	disorder of metabolite absorption and transport		UMLS:CN227202|Orphanet:309824	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017757	Orphanet:309824|UMLS:CN227202	ordo_group_of_disorders|disease_grouping
MONDO:0017750	biolink:Disease	defect in conserved oligomeric Golgi complex		Orphanet:309568	mondo.json	defect in COG complex	http://purl.obolibrary.org/obo/MONDO_0017750	Orphanet:309568	ordo_group_of_disorders|disease_grouping
MONDO:0017751	biolink:Disease	obsolete Reye syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017751		
MONDO:0017752	biolink:Disease	defect in V-ATPase		Orphanet:309778	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017752	Orphanet:309778	ordo_group_of_disorders|disease_grouping
HGNC:9142	biolink:NamedThing	PRRX1			mondo.json		http://identifiers.org/hgnc/9142		
MONDO:0017753	biolink:Disease	obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation		UMLS:CN227198|Orphanet:309810|GARD:0012476	mondo.json	disorder of peroxisomal alpha-, beta- and omega-oxidation	http://purl.obolibrary.org/obo/MONDO_0017753	Orphanet:309810|UMLS:CN227198	ordo_group_of_disorders|gard_rare
HGNC:9143	biolink:NamedThing	PHOX2B			mondo.json		http://identifiers.org/hgnc/9143		
MONDO:0003117	biolink:Disease	somatoform disorder	A category of psychiatric disorders which are characterized by the presence of physical symptoms that suggest a medical condition but are not fully explained by any known medical reasons.	MESH:D013001|ICD9:300.8|ICD9:300.81|SCTID:31297008|DOID:4737|NCIT:C34956|ICD9:306.8	mondo.json	physiological malfunction arising from mental factor|psychosomatic disorder|somatoform disorder|psychophysiologic disorder	http://purl.obolibrary.org/obo/MONDO_0003117	NCIT:C34956|DOID:4737|http://identifiers.org/snomedct/31297008|http://identifiers.org/mesh/D013001	
MONDO:0005779	biolink:Disease	hand, foot and mouth disease	A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks.	SCTID:266108008|UMLS:C0018572|NCIT:C128439|EFO:0007294|ICD9:074.3|DOID:10881|MESH:D006232	mondo.json	HFMD|hand, foot, and mouth disease|vesicular stomatitis and exanthem|hand foot and mouth disease	http://purl.obolibrary.org/obo/MONDO_0005779	http://identifiers.org/mesh/D006232|http://identifiers.org/snomedct/266108008|UMLS:C0018572|DOID:10881|NCIT:C128439	
MONDO:0003118	biolink:Disease	testicular Brenner tumor	An uncommon usually benign neoplasm that arises from the testis. It is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma.	NCIT:C39953|DOID:4739|UMLS:C1515281	mondo.json	testes, rudimentary Brenner tumor|testis Brenner tumor	http://purl.obolibrary.org/obo/MONDO_0003118	DOID:4739|NCIT:C39953|UMLS:C1515281	
HP:0031192	biolink:PhenotypicFeature	Abnormal morphology of left ventricular trabeculae	Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae).		mondo.json		http://purl.obolibrary.org/obo/HP_0031192		
MONDO:0003119	biolink:Disease	obsolete histiocytoid hemangioma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003119		
MONDO:0003113	biolink:Disease	extragonadal germ cell cancer	A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary.	UMLS:C1334581|NCIT:C8881|DOID:4717	mondo.json	malignant neoplasm of the extragonadal germ cell|malignant extragonadal germ cell tumor|extragonadal germ cell tumor, malignant|tumor of extragonadal germ cell|malignant tumor of extragonadal germ cell|malignant tumor of the extragonadal germ cell|extragonadal germ cell malignant tumor|malignant neoplasm of extragonadal germ cell	http://purl.obolibrary.org/obo/MONDO_0003113	UMLS:C1334581|DOID:4717|NCIT:C8881	
MONDO:0005776	biolink:Disease	gnathomiasis	An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia).	NCIT:C128395|DOID:11379|EFO:0007289|SCTID:44086001|ICD9:128.1|ICD10CM:B83.1|UMLS:C0018013|GARD:0009286|MESH:D058429	mondo.json	Gnathostoma infection|Gnathostomiasis|infectious disease by Gnathostoma	http://purl.obolibrary.org/obo/MONDO_0005776	UMLS:C0018013|DOID:11379|http://identifiers.org/mesh/D058429|http://purl.bioontology.org/ontology/ICD10CM/B83.1|NCIT:C128395|http://identifiers.org/snomedct/44086001	
CHEBI:25703	biolink:ChemicalSubstance	organic phosphate			mondo.json	organophosphate esters|organic phosphate|organic phosphate ester|organic phosphates|organic phosphate esters|organophosphate ester	http://purl.obolibrary.org/obo/CHEBI_25703		
MONDO:0003114	biolink:Disease	obsolete bone giant cell sarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003114		
MONDO:0005775	biolink:Disease	G6PD deficiency	An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs.	EFO:0007287|UMLS:C2939465|SCTID:62403005|MESH:D005955|NCIT:C98933|DOID:2862	mondo.json	glucose-6-phosphate dehydrogenase deficiency|inborn error of glucose-6-phosphate dehydrogenase activity|inborn glucose-6-phosphate dehydrogenase activity disorder|rare inborn error of glucose-6-phosphate dehydrogenase activity|G6PD deficiency|glucosephosphate dehydrogenase deficiency|G-6-PD variant enzyme deficiency Anemia|G6PD|deficiency of G-6PD	http://purl.obolibrary.org/obo/MONDO_0005775	DOID:2862|NCIT:C98933|UMLS:C2939465|http://identifiers.org/mesh/D005955|http://identifiers.org/snomedct/62403005	
MONDO:0003115	biolink:Disease	subglottic hemangioma	A hemangioma arising from the subglottic area.	UMLS:C1336518|NCIT:C6026|DOID:472	mondo.json	angioma of subglottis|hemangioma of subglottis|subglottic hemangioma|angioma of the subglottis|subglottis hemangioma|subglottic angioma|subglottis angioma|hemangioma of the subglottis	http://purl.obolibrary.org/obo/MONDO_0003115	NCIT:C6026|UMLS:C1336518|DOID:472	
MONDO:0005778	biolink:Disease	haemonchiasis	Infection with nematodes of the genus haemonchus, characterized by digestive abnormalities and anemia similar to that from hookworm infestation.	MESH:D006188|DOID:3332|EFO:0007293|UMLS:C0018477	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005778	http://identifiers.org/mesh/D006188|UMLS:C0018477|DOID:3332	
CHEBI:25701	biolink:ChemicalSubstance	organic oxide	An oxide in which the oxygen atom is bonded to a carbon atom.		mondo.json	organic oxides	http://purl.obolibrary.org/obo/CHEBI_25701		
MONDO:0005777	biolink:Disease	granuloma inguinale	A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia.	NCIT:C3065|MESH:D006100|SCTID:28867007|UMLS:C0018190|GARD:0009532|ICD9:099.2|ICD10CM:A58|EFO:0007291|DOID:9113	mondo.json	granuloma inguinale|donovanosis|pudendal ulcer	http://purl.obolibrary.org/obo/MONDO_0005777	http://identifiers.org/snomedct/28867007|UMLS:C0018190|DOID:9113|NCIT:C3065|http://purl.bioontology.org/ontology/ICD10CM/A58|http://identifiers.org/mesh/D006100	gard_rare
MONDO:0003116	biolink:Disease	obsolete calciphylaxis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003116		
MONDO:0005772	biolink:Disease	geotrichosis	Infection due to the fungus Geotrichum.	SCTID:13969006|UMLS:C0017455|ICD10CM:B48.3|EFO:0007284|MESH:D005847|DOID:2832|ICD9:117.9	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005772	DOID:2832|http://purl.bioontology.org/ontology/ICD10CM/B48.3|http://identifiers.org/mesh/D005847|UMLS:C0017455|http://identifiers.org/snomedct/13969006	
MONDO:0005771	biolink:Disease	geographic tongue	A benign condition characterized by the development of irregular patches in the surface of the tongue resulting in a map-like appearance. The patches migrate from day to day and usually resolve without treatment.	UMLS:C0017677|ICD9:529.1|EFO:0007283|SCTID:59032001|NCIT:C84588|OMIM:137400|DOID:1455|ICD10CM:K14.1	mondo.json	Pityriasis linguae|glossitis areata exfoliativa|benign migratory glossitis	http://purl.obolibrary.org/obo/MONDO_0005771	DOID:1455|http://purl.bioontology.org/ontology/ICD10CM/K14.1|UMLS:C0017677|NCIT:C84588|http://identifiers.org/snomedct/59032001	
MONDO:0003110	biolink:Disease	skin hemangioma	A hemangioma arising from the skin.	DOID:471|UMLS:C0687140|SCTID:93471006|NCIT:C4905	mondo.json	angioma of the skin|angioma of skin|hemangioma of skin|hemangioma of the skin|skin hemangioma|zone of skin hemangioma|angiomatous naevus of skin|skin angioma|hemangioma of zone of skin	http://purl.obolibrary.org/obo/MONDO_0003110	NCIT:C4905|UMLS:C0687140|DOID:471|http://identifiers.org/snomedct/93471006	
MONDO:0005774	biolink:Disease	glanders	A condition resulting from infection by Burkholderia mallei, which mainly affects horses.	GARD:0009536|UMLS:C0017589|NCIT:C34638|EFO:0007286|MESH:D005896|ICD10CM:A24.0|DOID:13444|ICD9:024|SCTID:4639008	mondo.json	infection due to Pseudomonas mallei|Burkholderia mallei infection|farcy pipes|Burkholderia mallei|Burkholderia mallei disease or disorder|Burkholderia mallei infectious disease|Burkholderia mallei caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005774	http://purl.bioontology.org/ontology/ICD10CM/A24.0|http://identifiers.org/snomedct/4639008|http://identifiers.org/mesh/D005896|UMLS:C0017589|NCIT:C34638|DOID:13444	gard_rare
MONDO:0003111	biolink:Disease	gastric neuroendocrine neoplasm	A neoplasm with neuroendocrine differentiation that arises from the stomach. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	Orphanet:100075|UMLS:C1333783|DOID:4715|NCIT:C5696|SCTID:721194008	mondo.json	stomach NET|neuroendocrine tumor of stomach|neuroendocrine neoplasm of stomach|stomach neuroendocrine tumor|neuroendocrine neoplasm of the stomach|NET of stomach|gastric neuroendocrine neoplasm|stomach neuroendocrine neoplasm|stomach neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine tumor of the stomach	http://purl.obolibrary.org/obo/MONDO_0003111	NCIT:C5696|Orphanet:100075|UMLS:C1333783|http://identifiers.org/snomedct/721194008|DOID:4715	
MONDO:0005773	biolink:Disease	Gerstmann syndrome	Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe.	SCTID:36785009|EFO:0007285|GARD:0008660|MedDRA:10048608|MESH:D005862|DOID:4969|Orphanet:221117|ICD9:784.69	mondo.json	Gerstmann Badal syndrome|GS|developmental Gerstmann syndrome|aphasia-angular gyrus syndrome|Gerstmann tetrad	http://purl.obolibrary.org/obo/MONDO_0005773	Orphanet:221117|http://identifiers.org/mesh/D005862|http://identifiers.org/snomedct/36785009|DOID:4969	gard_rare|ordo_disease
MONDO:0003112	biolink:Disease	malignant gastric germ cell tumor	A malignant germ cell tumor that arises from the stomach. It includes choriocarcinoma and immature teratoma.	UMLS:C1334584|DOID:4716|UMLS:C1333769|NCIT:C5486	mondo.json	malignant germ cell neoplasm of the stomach|malignant germ cell neoplasm of stomach|malignant gastric germ cell neoplasm|malignant gastric germ cell tumor|malignant germ cell tumor of the stomach|malignant germ cell tumor of stomach|germ cell tumor of the stomach	http://purl.obolibrary.org/obo/MONDO_0003112	NCIT:C5486|UMLS:C1334584|UMLS:C1333769|DOID:4716	
MONDO:0005770	biolink:Disease	genital herpes	Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus.	DOID:8704|ICD9:054.19|NCIT:C14364|UMLS:C0019342|SCTID:33839006|EFO:0007282|ICD9:054.1|MESH:D006558|ICD9:054.10	mondo.json	genital herpes simplex|herpes genitalia|venereal herpes|virus-genital herpes|herpes genitalis	http://purl.obolibrary.org/obo/MONDO_0005770	DOID:8704|http://identifiers.org/snomedct/33839006|UMLS:C0019342|http://identifiers.org/mesh/D006558|NCIT:C14364	
CHEBI:597326	biolink:ChemicalSubstance	pyridoxal 5'-phosphate(2-)	The dianion resulting from the removal of two protons from the phosphate group of pyridoxal 5'-phosphate.		mondo.json	3-hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde 5-phosphate dianion|pyridoxal 5'-phosphate|(4-formyl-5-hydroxy-6-methylpyridin-3-yl)methyl phosphate|3-hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde 5-phosphate(2-)|pyridoxal 5'-phosphate dianion	http://purl.obolibrary.org/obo/CHEBI_597326		
GO:0046496	biolink:NamedThing	nicotinamide nucleotide metabolic process	The chemical reactions and pathways involving nicotinamide nucleotides, any nucleotide that contains combined nicotinamide.		mondo.json	nicotinamide nucleotide metabolism	http://purl.obolibrary.org/obo/GO_0046496		
MONDO:0017747	biolink:Disease	disorder of fucoglycosan synthesis		Orphanet:309505|UMLS:CN227193	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017747	Orphanet:309505|UMLS:CN227193	ordo_group_of_disorders|disease_grouping
MONDO:0017748	biolink:Disease	inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation		Orphanet:309515|UMLS:CN227194	mondo.json	disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation|disorder of glycosphingolipid and GPI-anchored proteins glycosylation	http://purl.obolibrary.org/obo/MONDO_0017748	Orphanet:309515|UMLS:CN227194	ordo_group_of_disorders|disease_grouping
MONDO:0017749	biolink:Disease	disorder of multiple glycosylation		Orphanet:309526|UMLS:CN227195	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017749	Orphanet:309526|UMLS:CN227195	ordo_group_of_disorders|disease_grouping
MONDO:0017743	biolink:Disease	disorder of O-N-acetylgalactosaminylglycan synthesis		Orphanet:309458|UMLS:CN227190	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017743	Orphanet:309458|UMLS:CN227190	ordo_group_of_disorders|disease_grouping
MONDO:0017744	biolink:Disease	disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis		Orphanet:309463|UMLS:CN227191	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017744	Orphanet:309463|UMLS:CN227191	ordo_group_of_disorders|disease_grouping
MONDO:0017745	biolink:Disease	disorder of O-mannosylglycan synthesis		Orphanet:309469|UMLS:CN227192	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017745	Orphanet:309469|UMLS:CN227192	ordo_group_of_disorders|disease_grouping
MONDO:0017746	biolink:Disease	atypical Rett syndrome	A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT).	GARD:0004694|Orphanet:3095|UMLS:C2748910|SCTID:718393002	mondo.json	Rett like syndrome|Rett syndrome variant|atypical RTT	http://purl.obolibrary.org/obo/MONDO_0017746	http://identifiers.org/snomedct/718393002|UMLS:C2748910|Orphanet:3095	ordo_disease
HGNC:9155	biolink:NamedThing	PNLIP			mondo.json		http://identifiers.org/hgnc/9155		
MONDO:0017740	biolink:Disease	disorder of protein N-glycosylation	A disease that has its basis in the disruption of protein N-linked glycosylation.	UMLS:CN227187|Orphanet:309347	mondo.json	disorder of protein N-linked glycosylation|protein N-linked glycosylation disease	http://purl.obolibrary.org/obo/MONDO_0017740	Orphanet:309347|UMLS:CN227187	ordo_group_of_disorders|disease_grouping
MONDO:0017741	biolink:Disease	disorder of protein O-glycosylation	A disease that has its basis in the disruption of protein O-linked glycosylation.	UMLS:CN227188|Orphanet:309447	mondo.json	disorder of protein O-linked glycosylation|protein O-linked glycosylation disease	http://purl.obolibrary.org/obo/MONDO_0017741	Orphanet:309447|UMLS:CN227188	ordo_group_of_disorders|disease_grouping
HGNC:9153	biolink:NamedThing	PNKD			mondo.json		http://identifiers.org/hgnc/9153		
CHEBI:25704	biolink:ChemicalSubstance	organic sulfate	Compounds of the general formula SO3HOR where R is an organyl group		mondo.json	organic sulfates	http://purl.obolibrary.org/obo/CHEBI_25704		
MONDO:0017742	biolink:Disease	disorder of O-xylosylglycan synthesis		UMLS:CN227189|Orphanet:309450	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017742	Orphanet:309450|UMLS:CN227189	disease_grouping|ordo_group_of_disorders
HGNC:9154	biolink:NamedThing	PNKP			mondo.json		http://identifiers.org/hgnc/9154		
MONDO:0005747	biolink:Disease	enterovirus infectious disease	An disease caused by infection with Enterovirus.	SCTID:53648006|ICD9:079.89|EFO:0007255|MESH:D004769|UMLS:C0014378	mondo.json	infections, Enterovirus|enteroviral infection|disease due to enterovirus|Enterovirus disease or disorder|enterovirus infectious disease|Enterovirus infectious disease|infection, Enterovirus|Enterovirus caused disease or disorder|Enterovirus infection|disease caused by enterovirus|enterovirus infection	http://purl.obolibrary.org/obo/MONDO_0005747	http://identifiers.org/snomedct/53648006|http://identifiers.org/mesh/D004769|UMLS:C0014378	
MONDO:0005746	biolink:Disease	enterobiasis	An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus.	MESH:D017229|ICD10CM:B80|SCTID:266162007|NCIT:C128396|DOID:7457|UMLS:C0030100|UMLS:C0086227|EFO:0007254|ICD9:127.4	mondo.json	oxyuriasis|Oxyuris vermicularis infection|threadworm infection|Enterobius vermicularis infectious disease|Enterobius vermicularis caused disease or disorder|Enterobius vermicularis infection|pinworm infection|Enterobius vermicularis disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005746	NCIT:C128396|http://purl.bioontology.org/ontology/ICD10CM/B80|http://identifiers.org/mesh/D017229|UMLS:C0086227|DOID:7457|http://identifiers.org/snomedct/266162007|UMLS:C0030100	
MONDO:0005749	biolink:Disease	eosinophilic pneumonia	An inflammatory lung disorder characterized by an increased number of eosinophils in the lungs. The majority of cases are idiopathic, without identifiable cause. In a minority of cases, medications, fungal infections, and environmental triggers have been implicated. It manifests as acute or chronic. Acute eosinophilic pneumonia is a severe and rapidly progressing pneumonia that may lead to respiratory failure requiring mechanical ventilation. Chronic eosinophilic pneumonia follows a slower course and manifests as fever, dyspnea, cough, and weight loss.	EFO:0007257|NCIT:C35150|DOID:5870|UMLS:C1527407|SCTID:367542003|MESH:D011657	mondo.json	pneumonia, eosinophilic|eosinophilic pneumonia	http://purl.obolibrary.org/obo/MONDO_0005749	UMLS:C1527407|DOID:5870|NCIT:C35150	
MONDO:0005748	biolink:Disease	enzootic pneumonia of calves	Chronic endemic respiratory disease of dairy calves and an important component of bovine respiratory disease complex. It primarily affects calves up to six months of age and the etiology is multifactorial. Stress plus a primary viral infection is followed by a secondary bacterial infection. The latter is most commonly associated with pasteurella multocida producing a purulent bronchopneumonia. Sometimes present are mannheimia haemolytica; haemophilus somnus and mycoplasma species.	UMLS:C0276046|MESH:D048089|EFO:0007256	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005748	UMLS:C0276046|http://identifiers.org/mesh/D048089	
MONDO:0005743	biolink:Disease	encephalitozoonosis	Infection with fungi of the genus encephalitozoon. Lesions commonly occur in the brain and kidney tubules. Other sites of infection in mammals are the liver; adrenal glands; optic nerves; retina; and myocardium.	MESH:D016890|DOID:4270|SCTID:12825006|ICD9:136.8|EFO:0007250|UMLS:C0085412	mondo.json	infection by Encephalitozoon	http://purl.obolibrary.org/obo/MONDO_0005743	DOID:4270|http://identifiers.org/snomedct/12825006|http://identifiers.org/mesh/D016890|UMLS:C0085412	
OIO:hasExactSynonym	biolink:NamedThing	has_exact_synonym			mondo.json		http://www.geneontology.org/formats/oboInOwl#hasExactSynonym		
MONDO:0005742	biolink:Disease	emphysematous cholecystitis	Cholecystitis resulting from infection by gas producing organisms.	DOID:9765|MESH:D041882|EFO:0007249|NCIT:C35592|UMLS:C0521610|SCTID:95558008	mondo.json	gaseous pericholecystitis	http://purl.obolibrary.org/obo/MONDO_0005742	http://identifiers.org/mesh/D041882|http://identifiers.org/snomedct/95558008|DOID:9765|UMLS:C0521610|NCIT:C35592	
MONDO:0005745	biolink:Disease	Enoplea infectious disease	Infections with nematodes of the order enoplida.	MESH:D017189|EFO:0007253	mondo.json	Enoplea disease or disorder|Enoplea caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005745	http://identifiers.org/mesh/D017189	
MONDO:0005744	biolink:Disease	yolk sac tumor	A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum.	UMLS:C0014145|SCTID:404081005|Orphanet:876|NCIT:C3011|OMIM:273300|MedDRA:10048251|EFO:0007252|ICDO:9071/3|ONCOTREE:BYST|DOID:1911	mondo.json	yolk Sac tumor site unspecified|infantile embryonal carcinoma|hepatoid yolk sac tumour|yolk SAC tumor, malignant|yolk Sac neoplasm|endodermal sinus tumor|yolk sac tumor|yolk Sac tumor|yolk Sac tumour site unspecified|endodermal sinus neoplasm	http://purl.obolibrary.org/obo/MONDO_0005744	Orphanet:876|DOID:1911|NCIT:C3011|http://identifiers.org/snomedct/404081005|UMLS:C0014145	ordo_disease
MONDO:0005741	biolink:Disease	obsolete egg allergy	OBSOLETE. Allergic reaction to eggs that is triggered by the immune system.	SCTID:91930004|EFO:0007248|UMLS:C0559469|MESH:D021181|ICD9:V15.03|DOID:4377	mondo.json	egg allergic disease|allergy of egg|allergy to eggs	http://purl.obolibrary.org/obo/MONDO_0005741	DOID:4377|UMLS:C0559469|http://identifiers.org/mesh/D021181|http://identifiers.org/snomedct/91930004	
MONDO:0005740	biolink:Disease	Echovirus infectious disease	Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses.	SCTID:271532008|EFO:0007247|UMLS:C0013533|MESH:D004457	mondo.json	Echovirus infection|infection, echo Virus|Echovirus caused disease or disorder|infections, echo Virus|echo Virus infection|infections, Echovirus|infection, Echovirus|echo Virus infections|Echovirus disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005740	http://identifiers.org/snomedct/271532008|http://identifiers.org/mesh/D004457|UMLS:C0013533	
MONDO:0017729	biolink:Disease	metachromatic leukodystrophy, late infantile form		Orphanet:309256	mondo.json	MLD, late infantile form|arylsulfatase A deficiency, late infantile form	http://purl.obolibrary.org/obo/MONDO_0017729	Orphanet:309256	ordo_clinical_subtype
MONDO:0017736	biolink:Disease	disorder of sialic acid metabolism		ICD9:277.89|Orphanet:309319|UMLS:C0342851|SCTID:238050009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017736	UMLS:C0342851|Orphanet:309319|http://identifiers.org/snomedct/238050009	disease_grouping|ordo_group_of_disorders
MONDO:0017737	biolink:Disease	intermediate severe Salla disease		Orphanet:309331|GARD:0010871|UMLS:CN203640	mondo.json	Intermediate Salla disease	http://purl.obolibrary.org/obo/MONDO_0017737	Orphanet:309331|UMLS:CN203640	gard_rare|ordo_clinical_subtype
MONDO:0017738	biolink:Disease	lysosomal glycogen storage disease		UMLS:CN203642|Orphanet:309337|ICD10CM:E74.0	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017738	Orphanet:309337|UMLS:CN203642	disease_grouping|ordo_group_of_disorders
MONDO:0017739	biolink:Disease	disorder of lysosomal-related organelles		Orphanet:309340|UMLS:CN227186	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017739	Orphanet:309340|UMLS:CN227186	disease_grouping|ordo_group_of_disorders
MONDO:0017732	biolink:Disease	alpha-mannosidosis, infantile form		Orphanet:309282	mondo.json	lysosomal alpha-D-mannosidase deficiency, infantile form	http://purl.obolibrary.org/obo/MONDO_0017732	Orphanet:309282	ordo_clinical_subtype
CHEBI:84087	biolink:ChemicalSubstance	human urinary metabolite	Any metabolite (endogenous or exogenous) found in human urine samples.		mondo.json	human urinary metabolites	http://purl.obolibrary.org/obo/CHEBI_84087		
MONDO:0017733	biolink:Disease	alpha-mannosidosis, adult form		UMLS:CN036949|Orphanet:309288|GTR:AN0103811|GTR:AN0103810	mondo.json	Alpha-mannosidosis adult-onset form|lysosomal alpha-D-mannosidase deficiency, adult form	http://purl.obolibrary.org/obo/MONDO_0017733	Orphanet:309288|UMLS:CN036949	ordo_clinical_subtype
MONDO:0017734	biolink:Disease	sialidosis	Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.	Orphanet:309294|SCTID:38795005|MedDRA:10058800	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017734	http://identifiers.org/snomedct/38795005|Orphanet:309294	ordo_group_of_disorders|disease_grouping
MONDO:0017735	biolink:Disease	congenital aortic valve stenosis		MedDRA:10010371|SCTID:18546004|ICD9:746.3|Orphanet:3093	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017735	http://identifiers.org/snomedct/18546004|Orphanet:3093	ordo_morphological_anomaly
NCBITaxon:46580	biolink:OrganismalEntity	Spirometra		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_46580		
MONDO:0017730	biolink:Disease	metachromatic leukodystrophy, adult form		Orphanet:309271	mondo.json	arylsulfatase A deficiency, adult form|MLD, adult form	http://purl.obolibrary.org/obo/MONDO_0017730	Orphanet:309271	ordo_clinical_subtype
MONDO:0017731	biolink:Disease	glycoproteinosis		GARD:0010670|Orphanet:309279	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017731	Orphanet:309279	ordo_group_of_disorders|gard_rare|disease_grouping
MONDO:0005739	biolink:Disease	echinostomiasis	Infection by flukes of the genus Echinostoma.	ICD9:121.8|UMLS:C0013514|SCTID:52918004|EFO:0007246|MESH:D004451|DOID:1218	mondo.json	Echinostomatoidea infectious disease|Echinostomatoidea caused disease or disorder|infection by Echinochasmus|Echinostomatoidea disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005739	UMLS:C0013514|DOID:1218|http://identifiers.org/snomedct/52918004|http://identifiers.org/mesh/D004451	
MONDO:0005758	biolink:Disease	eunuchism	The state of being a eunuch, a male without testes or whose testes failed to develop. It is characterized by the lack of mature male germ cells and testicular hormones.	NCIT:C131195|SCTID:267403002|DOID:5003|EFO:0007266|UMLS:C0238117|ICD9:257.2|MESH:D005058	mondo.json	hypergonadotropic hypogonadism (Male)|Male hypergonadotropic hypogonadism|Primary testicular failure	http://purl.obolibrary.org/obo/MONDO_0005758	NCIT:C131195|http://identifiers.org/snomedct/267403002|http://identifiers.org/mesh/D005058|UMLS:C0238117|DOID:5003	
MONDO:0005757	biolink:Disease	eumycotic mycetoma	A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes.	SCTID:410039003|NCIT:C85505|EFO:0007265|UMLS:C0024449|ICD10CM:B47|ICD9:117.4|MESH:D008271|SCTID:410038006|DOID:13078	mondo.json	mycotic mycetoma|Madura foot|maduromycosis|Maduromycosis, mycotic|eumycetoma	http://purl.obolibrary.org/obo/MONDO_0005757	DOID:13078|http://identifiers.org/snomedct/410038006	
MONDO:0005759	biolink:Disease	fascioloidiasis	Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma.	UMLS:C0015655|MESH:D005213|EFO:0007268|DOID:1217|SCTID:69550000	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005759	http://identifiers.org/mesh/D005213|DOID:1217|http://identifiers.org/snomedct/69550000|UMLS:C0015655	
MONDO:0005754	biolink:Disease	epilepsy with generalized tonic-clonic seizures	A generalized tonic-clonic seizure.	DOID:7725|MESH:D004830|ICD9:345.10|SCTID:352818000|NCIT:C3022|EFO:0007262|UMLS:C0014549	mondo.json	epileptic seizures, tonic-clonic|tonic-clonic epilepsy|grand Mal epilepsy	http://purl.obolibrary.org/obo/MONDO_0005754	http://identifiers.org/snomedct/352818000|NCIT:C3022|http://identifiers.org/mesh/D004830|DOID:7725|UMLS:C0014549	
HGNC:9173	biolink:NamedThing	POLA1			mondo.json		http://identifiers.org/hgnc/9173		
MONDO:0005753	biolink:Disease	epiglottitis	Inflammation of the epiglottis.	MESH:D004826|SCTID:80384002|EFO:0007261|NCIT:C116007|ICD9:464.3|UMLS:C0014541|DOID:9398	mondo.json	mucosa of epiglottis inflammation|supraglottitis|inflammation of mucosa of epiglottis|acute epiglottitis and supraglottitis	http://purl.obolibrary.org/obo/MONDO_0005753	http://identifiers.org/snomedct/80384002|DOID:9398|http://identifiers.org/mesh/D004826|NCIT:C116007|UMLS:C0014541	
MONDO:0005756	biolink:Disease	ethmoid sinusitis	An acute or chronic inflammatory process affecting the mucous membrane of the ethmoid sinus.	DOID:9507|SCTID:18643000|MESH:D015521|UMLS:C0015029|NCIT:C34597|EFO:0007264	mondo.json	ethmoid bone sinusitis|ethmoiditis|ethmoidal sinusitis|sinusitis of ethmoid bone	http://purl.obolibrary.org/obo/MONDO_0005756	http://identifiers.org/snomedct/18643000|NCIT:C34597|DOID:9507|UMLS:C0015029|http://identifiers.org/mesh/D015521	
MONDO:0005755	biolink:Disease	equine infectious anemia	Viral disease of horses caused by the equine infectious anemia virus (eiav; infectious anemia virus, equine). It is characterized by intermittent fever, weakness, and anemia. Chronic infection consists of acute episodes with remissions.	EFO:0007263|MESH:D004859|UMLS:C0014661	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005755	http://identifiers.org/mesh/D004859|UMLS:C0014661	
MONDO:0005750	biolink:Disease	ephemeral fever	An Ephemerovirus infection of cattle caused by bovine ephemeral fever virus (ephemeral fever virus, bovine). It is characterized by respiratory symptoms, increased oropharyngeal secretions and lacrimation, joint pains, tremor, and stiffness.	EFO:0007258|UMLS:C0014481|MESH:D004810	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005750	http://identifiers.org/mesh/D004810|UMLS:C0014481	
CHEBI:13719	biolink:ChemicalSubstance	acetylsalicylate	A benzoate that is the conjugate base of acetylsalicylic acid, arising from deprotonation of the carboxy group.		mondo.json	2-(acetyloxy)benzoate|acetylsalicylate	http://purl.obolibrary.org/obo/CHEBI_13719		
MONDO:0005752	biolink:Disease	epidural abscess	Circumscribed collections of suppurative material occurring in the spinal or intracranial epidural space. The majority of epidural abscesses occur in the spinal canal and are associated with osteomyelitis of a vertebral body; analgesia, epidural; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, urinary incontinence, and fecal incontinence. Cranial epidural abscesses are usually associated with osteomyelitis of a cranial bone, sinusitis, or otitis media. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12)	MESH:D020802|EFO:0007260|UMLS:C0270629|DOID:11387|SCTID:61974008	mondo.json	abscess epidural|intraspinal epidural abscess|spinal epidural abscess|intraspinal extradural abscess|spinal extradural abscess|spinal epidural abscess (disorder)|extradural intraspinal abscess	http://purl.obolibrary.org/obo/MONDO_0005752	DOID:11387|http://identifiers.org/mesh/D020802|http://identifiers.org/snomedct/61974008|UMLS:C0270629	
MONDO:0005751	biolink:Disease	epidemic pleurodynia	An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses.	EFO:0007259|DOID:10882|MESH:D011000|UMLS:C0032238|ICD10CM:B33.0|ICD9:074.1|SCTID:83264000	mondo.json	Bamble disease|epidemic, myositis|epidemic pleurisy|epidemic myalgia|devil's grip|Bornholm disease	http://purl.obolibrary.org/obo/MONDO_0005751	http://purl.bioontology.org/ontology/ICD10CM/B33.0|http://identifiers.org/snomedct/83264000|UMLS:C0032238|DOID:10882|http://identifiers.org/mesh/D011000	
MONDO:0017718	biolink:Disease	obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes		UMLS:CN227185|Orphanet:309136	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017718	UMLS:CN227185|Orphanet:309136	ordo_group_of_disorders
MONDO:0017719	biolink:Disease	gangliosidosis	A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.	SCTID:50967008|Orphanet:309144|DOID:2368|GARD:0012510|UMLS:C0017083	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017719	http://identifiers.org/snomedct/50967008|DOID:2368|Orphanet:309144|UMLS:C0017083	disease_grouping|ordo_group_of_disorders
MONDO:0017725	biolink:Disease	Tay-Sachs disease, b variant, juvenile form		UMLS:CN203621|Orphanet:309185	mondo.json	hexosaminidase A deficiency, juvenile form|GM2 gangliosidosis, B variant, juvenile form	http://purl.obolibrary.org/obo/MONDO_0017725	Orphanet:309185|UMLS:CN203621	ordo_clinical_subtype
MONDO:0017726	biolink:Disease	Tay-Sachs disease, b variant, adult form		UMLS:C1848914|Orphanet:309192	mondo.json	GM2 gangliosidosis, B variant, adult form|hexosaminidase A deficiency, adult form	http://purl.obolibrary.org/obo/MONDO_0017726	Orphanet:309192|UMLS:C1848914	ordo_clinical_subtype
MONDO:0017727	biolink:Disease	fixed subaortic stenosis	Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form.	Orphanet:3092	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017727	Orphanet:3092	ordo_morphological_anomaly
MONDO:0017728	biolink:Disease	Tay-Sachs disease, B1 variant		Orphanet:309239|SCTID:238024005	mondo.json	GM2 gangliosidosis, B1 variant|hexosaminidase A deficiency, B1 variant	http://purl.obolibrary.org/obo/MONDO_0017728	http://identifiers.org/snomedct/238024005|Orphanet:309239	ordo_clinical_subtype
MONDO:0017721	biolink:Disease	Sandhoff disease, infantile form		UMLS:CN203617|Orphanet:309155	mondo.json	Hexosaminidases A and B deficiency, infantile form|infantile GM2 gangliosidosis 0 variant	http://purl.obolibrary.org/obo/MONDO_0017721	Orphanet:309155|UMLS:CN203617	ordo_clinical_subtype
MONDO:0017722	biolink:Disease	Sandhoff disease, juvenile form		Orphanet:309162|UMLS:CN203618	mondo.json	Hexosaminidases A and B deficiency, juvenile form|juvenile GM2 gangliosidosis 0 variant	http://purl.obolibrary.org/obo/MONDO_0017722	Orphanet:309162|UMLS:CN203618	ordo_clinical_subtype
MONDO:0017723	biolink:Disease	Sandhoff disease, adult form	A Sandhoff disease that occurs in an adult.	UMLS:CN203619|Orphanet:309169	mondo.json	adult Sandhoff disease|Hexosaminidases A and B deficiency, adult form|Sandhoff disease of adults|adult GM2 gangliosidosis 0 variant	http://purl.obolibrary.org/obo/MONDO_0017723	Orphanet:309169|UMLS:CN203619	ordo_clinical_subtype
MONDO:0017724	biolink:Disease	Tay-Sachs disease, b variant, infantile form		UMLS:CN203620|Orphanet:309178	mondo.json	GM2 gangliosidosis, B variant, infantile form|hexosaminidase A deficiency, infantile form	http://purl.obolibrary.org/obo/MONDO_0017724	Orphanet:309178|UMLS:CN203620	ordo_clinical_subtype
HGNC:9177	biolink:NamedThing	POLE			mondo.json		http://identifiers.org/hgnc/9177		
HGNC:9175	biolink:NamedThing	POLD1			mondo.json		http://identifiers.org/hgnc/9175		
MONDO:0017720	biolink:Disease	GM2 gangliosidosis	A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.	GARD:0002522|Orphanet:309152|UMLS:C0268274|DOID:3321|ICD10CM:E75.0|SCTID:33316007|MESH:D020143	mondo.json	GM>2< gangliosidosis|GM2-gangliosidosis, B, B1, AB variant|gangliosidosis GM2	http://purl.obolibrary.org/obo/MONDO_0017720	http://purl.bioontology.org/ontology/ICD10CM/E75.0|DOID:3321|Orphanet:309152|http://identifiers.org/mesh/D020143|UMLS:C0268274|http://identifiers.org/snomedct/33316007	gard_rare|ordo_group_of_disorders|disease_grouping
HGNC:9179	biolink:NamedThing	POLG			mondo.json		http://identifiers.org/hgnc/9179		
FOODON:03411335	biolink:NamedThing	crab	Crabs are decapod crustaceans of the infraorder *Brachyura*, which typically have a very short projecting "tail", usually entirely hidden under the thorax. They live in all the world's oceans, in fresh water, and on land, are generally covered with a thick exoskeleton and have a single pair of claws. Many other animals with similar names - such as hermit crabs, king crabs, porcelain crabs, horseshoe crabs, and crab lice - are not true crabs.   Crabs are generally covered with a thick exoskeleton, composed primarily of highly mineralized chitin, and armed with a single pair of chelae (claws). Crabs are found in all of the world's oceans, while many crabs live in fresh water and on land, particularly in tropical regions. [https://en.wikipedia.org/wiki/Crab]		mondo.json		http://purl.obolibrary.org/obo/FOODON_03411335		
UBERON:0004819	biolink:AnatomicalEntity	kidney epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004819		
UBERON:0004817	biolink:AnatomicalEntity	lacrimal gland epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004817		
UBERON:0004815	biolink:AnatomicalEntity	lower respiratory tract epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004815		
UBERON:0004816	biolink:AnatomicalEntity	larynx epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004816		
UBERON:0004813	biolink:AnatomicalEntity	seminiferous tubule epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004813		
HP:0100000	biolink:PhenotypicFeature	Early onset of sexual maturation	An early onset of puberty, in this case early does not refer to precocious.	UMLS:C4022392	mondo.json	Early onset of sexual maturation	http://purl.obolibrary.org/obo/HP_0100000		
UBERON:0004814	biolink:AnatomicalEntity	upper respiratory tract epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004814		
GO:0034613	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0034613		
GO:0010646	biolink:NamedThing	regulation of cell communication	Any process that modulates the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment.		mondo.json		http://purl.obolibrary.org/obo/GO_0010646		
GO:0010647	biolink:NamedThing	positive regulation of cell communication	Any process that increases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment.		mondo.json		http://purl.obolibrary.org/obo/GO_0010647		
CHEBI:140310	biolink:ChemicalSubstance	phenyl acetates	An acetate ester obtained by formal condensation of the carboxy group of acetic acid with the hydroxy group of any phenol.		mondo.json	a phenyl acetate|phenyl acetate derivative|phenyl acetate derivatives	http://purl.obolibrary.org/obo/CHEBI_140310		
GO:0010648	biolink:NamedThing	negative regulation of cell communication	Any process that decreases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment.		mondo.json		http://purl.obolibrary.org/obo/GO_0010648		
GO:0009653	biolink:NamedThing	anatomical structure morphogenesis	The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form.		mondo.json	morphogenesis|anatomical structure organization|embryogenesis and morphogenesis	http://purl.obolibrary.org/obo/GO_0009653		
UBERON:0004822	biolink:AnatomicalEntity	extrahepatic bile duct epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004822		
UBERON:0004823	biolink:AnatomicalEntity	intrahepatic bile duct epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004823		
UBERON:0004820	biolink:AnatomicalEntity	bile duct epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004820		
UBERON:0004821	biolink:AnatomicalEntity	pulmonary alveolus epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004821		
HGNC:989	biolink:NamedThing	BCL10			mondo.json		http://identifiers.org/hgnc/989		
UBERON:0004808	biolink:AnatomicalEntity	gastrointestinal system epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004808		
FOODON:03411347	biolink:NamedThing	obsolete: plant			mondo.json		http://purl.obolibrary.org/obo/FOODON_03411347		
UBERON:0004809	biolink:AnatomicalEntity	salivary gland epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004809		
UBERON:0004806	biolink:AnatomicalEntity	vas deferens epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004806		
UBERON:0004807	biolink:AnatomicalEntity	respiratory system epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004807		
GO:0007009	biolink:NamedThing	plasma membrane organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the plasma membrane.		mondo.json	plasma membrane organization and biogenesis|plasma membrane organisation	http://purl.obolibrary.org/obo/GO_0007009		
UBERON:0004804	biolink:AnatomicalEntity	oviduct epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004804		
UBERON:0004805	biolink:AnatomicalEntity	seminal vesicle epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004805		
UBERON:0004802	biolink:AnatomicalEntity	respiratory tract epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004802		
GO:0007006	biolink:NamedThing	mitochondrial membrane organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrial membrane, either of the lipid bilayer surrounding a mitochondrion.		mondo.json	mitochondrial membrane organisation|mitochondrial membrane organization and biogenesis	http://purl.obolibrary.org/obo/GO_0007006		
UBERON:0004803	biolink:AnatomicalEntity	penis epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004803		
GO:0007005	biolink:NamedThing	mitochondrion organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components.		mondo.json	mitochondria organization|mitochondrion organization and biogenesis|mitochondrion organisation	http://purl.obolibrary.org/obo/GO_0007005		
UBERON:0004811	biolink:AnatomicalEntity	endometrium epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004811		
UBERON:0004812	biolink:AnatomicalEntity	male prepuce epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004812		
GO:0022626	biolink:NamedThing	cytosolic ribosome	A ribosome located in the cytosol.		mondo.json	70S ribosome|80S ribosome	http://purl.obolibrary.org/obo/GO_0022626		
UBERON:0004810	biolink:AnatomicalEntity	nephron tubule epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004810		
HP:0100022	biolink:PhenotypicFeature	Abnormality of movement	An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.	MSH:D009069|UMLS:C0026650|SNOMEDCT_US:60342002	mondo.json	Movement disorder|Abnormality of movement|Unusual movement	http://purl.obolibrary.org/obo/HP_0100022		
HGNC:970	biolink:NamedThing	BBS5			mondo.json		http://identifiers.org/hgnc/970		
GO:0022610	biolink:NamedThing	obsolete biological adhesion	OBSOLETE. The attachment of a cell or organism to a substrate, another cell, or other organism. Biological adhesion includes intracellular attachment between membrane regions.		mondo.json		http://purl.obolibrary.org/obo/GO_0022610		
GO:0010623	biolink:NamedThing	programmed cell death involved in cell development	The activation of endogenous cellular processes that result in the death of a cell as part of its development.		mondo.json	programmed cell death involved in development|developmental programmed cell death	http://purl.obolibrary.org/obo/GO_0010623		
GO:0010628	biolink:NamedThing	positive regulation of gene expression	Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).		mondo.json		http://purl.obolibrary.org/obo/GO_0010628		
GO:0010629	biolink:NamedThing	negative regulation of gene expression	Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).		mondo.json	gene silencing	http://purl.obolibrary.org/obo/GO_0010629		
CHEBI:33299	biolink:ChemicalSubstance	alkaline earth molecular entity	An alkaline earth molecular entity is a molecular entity containing one or more atoms of an alkaline earth metal.		mondo.json	alkaline-earth compounds|alkaline earth molecular entity|alkaline earth compounds|alkaline earth molecular entities	http://purl.obolibrary.org/obo/CHEBI_33299		
GO:0022613	biolink:NamedThing	ribonucleoprotein complex biogenesis	A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a complex containing RNA and proteins. Includes the biosynthesis of the constituent RNA and protein molecules, and those macromolecular modifications that are involved in synthesis or assembly of the ribonucleoprotein complex.		mondo.json	RNA-protein complex biogenesis|ribonucleoprotein complex biogenesis and assembly	http://purl.obolibrary.org/obo/GO_0022613		
CHEBI:33290	biolink:ChemicalSubstance	food	A physiological role played by any substance of either plant, animal or artificial origin which contains essential body nutrients that can be ingested by an organism to provide energy, promote growth, and maintain the processes of life.		mondo.json	food materials|food material|food role|foodstuff|foods|foodstuffs	http://purl.obolibrary.org/obo/CHEBI_33290		
GO:0009636	biolink:NamedThing	response to toxic substance	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus.		mondo.json	detoxification response|toxin resistance|toxin susceptibility/resistance	http://purl.obolibrary.org/obo/GO_0009636		
UBERON:0004801	biolink:AnatomicalEntity	cervix epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004801		
CHEBI:33292	biolink:ChemicalSubstance	fuel	An energy-rich substance that can be transformed with release of usable energy.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_33292		
HGNC:969	biolink:NamedThing	BBS4			mondo.json		http://identifiers.org/hgnc/969		
SO:0001026	biolink:SequenceFeature	genome	A genome is the sum of genetic material within a cell or virion.		mondo.json		http://purl.obolibrary.org/obo/SO_0001026		
CHEBI:33295	biolink:ChemicalSubstance	diagnostic agent	A substance administered to aid diagnosis of a disease.		mondo.json	diagnostic aid	http://purl.obolibrary.org/obo/CHEBI_33295		
RO:0016001	biolink:NamedThing	has phenotype or disease			mondo.json		http://purl.obolibrary.org/obo/RO_0016001		
GO:0022618	biolink:NamedThing	ribonucleoprotein complex assembly	The aggregation, arrangement and bonding together of proteins and RNA molecules to form a ribonucleoprotein complex.		mondo.json	RNP complex assembly|RNA-protein complex assembly|protein-RNA complex assembly	http://purl.obolibrary.org/obo/GO_0022618		
CHEBI:33296	biolink:ChemicalSubstance	alkali metal molecular entity	A molecular entity containing one or more atoms of an alkali metal.		mondo.json	alkali metal molecular entities	http://purl.obolibrary.org/obo/CHEBI_33296		
HGNC:967	biolink:NamedThing	BBS2			mondo.json		http://identifiers.org/hgnc/967		
HGNC:987	biolink:NamedThing	BCKDHB			mondo.json		http://identifiers.org/hgnc/987		
HP:0100037	biolink:PhenotypicFeature	Abnormality of the scalp hair	An abnormality of the hair of head.	UMLS:C4022384	mondo.json	Abnormality of the scalp hair	http://purl.obolibrary.org/obo/HP_0100037		
HGNC:986	biolink:NamedThing	BCKDHA			mondo.json		http://identifiers.org/hgnc/986		
HP:0100035	biolink:PhenotypicFeature	Phonic tics	Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound.	MSH:D020323|UMLS:C0751901	mondo.json	Verbal tics|Vocal tics	http://purl.obolibrary.org/obo/HP_0100035		
HP:0100033	biolink:PhenotypicFeature	Tics	Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement.	UMLS:C2169806	mondo.json	Tic disorder|Tics	http://purl.obolibrary.org/obo/HP_0100033		
GO:0022600	biolink:NamedThing	digestive system process	A physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism.		mondo.json		http://purl.obolibrary.org/obo/GO_0022600		
HP:0100034	biolink:PhenotypicFeature	Motor tics	Movement-based tics affecting discrete muscle groups.	MSH:D020323|UMLS:C0751900	mondo.json		http://purl.obolibrary.org/obo/HP_0100034		
GO:0010639	biolink:NamedThing	negative regulation of organelle organization	Any process that decreases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle.		mondo.json	negative regulation of organelle organisation|negative regulation of organelle organization and biogenesis	http://purl.obolibrary.org/obo/GO_0010639		
GO:0010638	biolink:NamedThing	positive regulation of organelle organization	Any process that increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle.		mondo.json	positive regulation of organelle organization and biogenesis|positive regulation of organelle organisation	http://purl.obolibrary.org/obo/GO_0010638		
GO:0022602	biolink:NamedThing	ovulation cycle process	A process involved in the sexual cycle seen in females, often with physiologic changes in the endometrium that recur at regular intervals during the reproductive years.		mondo.json	estrous cycle process|menstrual cycle process	http://purl.obolibrary.org/obo/GO_0022602		
SO:0001019	biolink:SequenceFeature	copy_number_variation	A variation that increases or decreases the copy number of a given region.		mondo.json	CNV|copy number variation|CNP|copy number polymorphism	http://purl.obolibrary.org/obo/SO_0001019		
GO:0022601	biolink:NamedThing	menstrual cycle phase	The progression of physiological phases, occurring in the endometrium during the menstrual cycle that recur at regular intervals during the reproductive years. The menstrual cycle is an ovulation cycle where the endometrium is shed if pregnancy does not occur.		mondo.json		http://purl.obolibrary.org/obo/GO_0022601		
GO:0022604	biolink:NamedThing	regulation of cell morphogenesis	Any process that modulates the frequency, rate or extent of cell morphogenesis. Cell morphogenesis is the developmental process in which the shape of a cell is generated and organized.		mondo.json	negative regulation of cell shape and cell size|positive regulation of cell shape and cell size|regulation of cell shape and cell size	http://purl.obolibrary.org/obo/GO_0022604		
GO:0022603	biolink:NamedThing	regulation of anatomical structure morphogenesis	Any process that modulates the frequency, rate or extent of anatomical structure morphogenesis.		mondo.json	regulation of morphogenesis	http://purl.obolibrary.org/obo/GO_0022603		
GO:0022607	biolink:NamedThing	cellular component assembly	The aggregation, arrangement and bonding together of a cellular component.		mondo.json	cell structure assembly|cellular component assembly at cellular level	http://purl.obolibrary.org/obo/GO_0022607		
GO:0010608	biolink:NamedThing	post-transcriptional regulation of gene expression	Any process that modulates the frequency, rate or extent of gene expression after the production of an RNA transcript.		mondo.json	posttranscriptional regulation of gene expression	http://purl.obolibrary.org/obo/GO_0010608		
HGNC:952	biolink:NamedThing	BARD1			mondo.json		http://identifiers.org/hgnc/952		
UBERON:0004859	biolink:AnatomicalEntity	eye gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004859		
HGNC:951	biolink:NamedThing	NKX3-2			mondo.json		http://identifiers.org/hgnc/951		
HGNC:950	biolink:NamedThing	BAP1			mondo.json		http://identifiers.org/hgnc/950		
UBERON:0004857	biolink:AnatomicalEntity	skeletal muscle connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004857		
OIO:hasSynonymType	biolink:NamedThing	has_synonym_type			mondo.json		http://www.geneontology.org/formats/oboInOwl#hasSynonymType		
GO:0010604	biolink:NamedThing	positive regulation of macromolecule metabolic process	Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass.		mondo.json		http://purl.obolibrary.org/obo/GO_0010604		
GO:0010605	biolink:NamedThing	negative regulation of macromolecule metabolic process	Any process that decreases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass.		mondo.json		http://purl.obolibrary.org/obo/GO_0010605		
GO:0046649	biolink:NamedThing	lymphocyte activation	A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor.		mondo.json		http://purl.obolibrary.org/obo/GO_0046649		
GO:0009611	biolink:NamedThing	response to wounding	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism.		mondo.json	physiological response to wounding	http://purl.obolibrary.org/obo/GO_0009611		
GO:0009612	biolink:NamedThing	response to mechanical stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mechanical stimulus.		mondo.json	chemi-mechanical coupling|mechanical stimulus response	http://purl.obolibrary.org/obo/GO_0009612		
UBERON:0002203	biolink:AnatomicalEntity	vasculature of eye			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002203		
UBERON:0004867	biolink:AnatomicalEntity	orbital cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004867		
UBERON:0002202	biolink:AnatomicalEntity	submucosa of trachea			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002202		
IAO:0006011	biolink:NamedThing	may be identical to	A annotation relationship between two terms in an ontology that may refer to the same (natural) type but where more evidence is required before terms are merged.		mondo.json		http://purl.obolibrary.org/obo/IAO_0006011		
UBERON:0004864	biolink:AnatomicalEntity	vasculature of retina			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004864		
IAO:0006012	biolink:NamedThing	scheduled for obsoletion on or after	Used when the class or object is scheduled for obsoletion/deprecation on or after a particular date.		mondo.json		http://purl.obolibrary.org/obo/IAO_0006012		
UBERON:0002204	biolink:AnatomicalEntity	musculoskeletal system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002204		
GO:0009617	biolink:NamedThing	response to bacterium	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium.		mondo.json	response to bacteria	http://purl.obolibrary.org/obo/GO_0009617		
UBERON:0004862	biolink:AnatomicalEntity	left lung alveolus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004862		
CHEBI:33273	biolink:ChemicalSubstance	polyatomic anion	An anion consisting of more than one atom.		mondo.json	polyatomic anions	http://purl.obolibrary.org/obo/CHEBI_33273		
UBERON:0002201	biolink:AnatomicalEntity	vasculature of trunk			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002201		
UBERON:0004861	biolink:AnatomicalEntity	right lung alveolus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004861		
UBERON:0002200	biolink:AnatomicalEntity	vasculature of head			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002200		
HGNC:966	biolink:NamedThing	BBS1			mondo.json		http://identifiers.org/hgnc/966		
FOODON:03411301	biolink:NamedThing	algae	An informal term for a large, diverse group of photosynthetic eukaryotic organisms that are not necessarily closely related, and is thus polyphyletic.		mondo.json		http://purl.obolibrary.org/obo/FOODON_03411301		
UBERON:0004848	biolink:AnatomicalEntity	respiratory system arterial endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004848		
UBERON:0004849	biolink:AnatomicalEntity	respiratory system venous endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004849		
GO:0046655	biolink:NamedThing	folic acid metabolic process	The chemical reactions and pathways involving folic acid, pteroylglutamic acid. Folic acid is widely distributed as a member of the vitamin B complex and is essential for the synthesis of purine and pyrimidines.		mondo.json	vitamin B9 metabolism|folate metabolic process|vitamin M metabolic process|vitamin M metabolism|folate metabolism|folic acid metabolism|vitamin B9 metabolic process	http://purl.obolibrary.org/obo/GO_0046655		
CHEBI:33286	biolink:ChemicalSubstance	agrochemical	An agrochemical is a substance that is used in agriculture or horticulture.		mondo.json	agricultural chemicals|agrichemical|agrochemicals|agrichemicals	http://purl.obolibrary.org/obo/CHEBI_33286		
CHEBI:33287	biolink:ChemicalSubstance	fertilizer	A fertilizer is any substance that is added to soil or water to assist the growth of plants.		mondo.json	fertilizers|fertiliser	http://purl.obolibrary.org/obo/CHEBI_33287		
CHEBI:33280	biolink:ChemicalSubstance	molecular messenger			mondo.json	chemical messenger	http://purl.obolibrary.org/obo/CHEBI_33280		
CHEBI:33281	biolink:ChemicalSubstance	antimicrobial agent	A substance that kills or slows the growth of microorganisms, including bacteria, viruses, fungi and protozoans.		mondo.json	antibiotics|antimicrobial agents|antibiotic|Antibiotikum|antibiotique|antimicrobial|microbicide|Antibiotika|microbicides|antimicrobials	http://purl.obolibrary.org/obo/CHEBI_33281		
UBERON:0004854	biolink:AnatomicalEntity	gastrointestinal system mesentery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004854		
CHEBI:33282	biolink:ChemicalSubstance	antibacterial agent	A substance (or active part thereof) that kills or slows the growth of bacteria.		mondo.json	antibacterials|antibacterial agents|bactericide|bactericides	http://purl.obolibrary.org/obo/CHEBI_33282		
GO:0009628	biolink:NamedThing	response to abiotic stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (not derived from living organisms) stimulus.		mondo.json	response to abiotic stress	http://purl.obolibrary.org/obo/GO_0009628		
UBERON:0004851	biolink:AnatomicalEntity	aorta endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004851		
UBERON:0004852	biolink:AnatomicalEntity	cardiovascular system endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004852		
CHEBI:33284	biolink:ChemicalSubstance	nutrient	A nutrient is a food component that an organism uses to survive and grow.		mondo.json	nutrients	http://purl.obolibrary.org/obo/CHEBI_33284		
CHEBI:33285	biolink:ChemicalSubstance	heteroorganic entity	A heteroorganic entity is an organic molecular entity in which carbon atoms or organic groups are bonded directly to one or more heteroatoms.		mondo.json	organoelement compounds|heteroorganic entities	http://purl.obolibrary.org/obo/CHEBI_33285		
UBERON:0004850	biolink:AnatomicalEntity	lymph node endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004850		
GO:0046660	biolink:NamedThing	female sex differentiation	The establishment of the sex of a female organism by physical differentiation.		mondo.json		http://purl.obolibrary.org/obo/GO_0046660		
HGNC:932	biolink:NamedThing	BAAT			mondo.json		http://identifiers.org/hgnc/932		
FOODON:03411312	biolink:NamedThing	wheat plant	Wheat (*Triticum* spp.) is a domesticated grass from the Levant that is cultivated worldwide. Major cultivated species of wheat:      * Common wheat or Bread wheat (*Triticum aestivum*) A hexaploid species that is the most widely cultivated in the world.      * Durum (*Triticum durum*) The only tetraploid form of wheat widely used today, and the second most widely cultivated wheat.      * Einkorn (*Triticum monococcum*) A diploid species with wild and cultivated variants. Domesticated at the same time as emmer wheat, but never reached the same importance.      * Emmer (*Triticum dicoccon*) A tetraploid species, cultivated in ancient times but no longer in widespread use.      * Spelt (*Triticum spelta*) Another hexaploid species cultivated in limited quantities.		mondo.json		http://purl.obolibrary.org/obo/FOODON_03411312		
HGNC:930	biolink:NamedThing	B4GALT7			mondo.json		http://identifiers.org/hgnc/930		
UBERON:0004835	biolink:AnatomicalEntity	epididymis smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004835		
CHEBI:33253	biolink:ChemicalSubstance	nucleon	Heavy nuclear particle: proton or neutron.		mondo.json	Nukleonen|nucleons|Nukleon|nucleon	http://purl.obolibrary.org/obo/CHEBI_33253		
CHEBI:33256	biolink:ChemicalSubstance	primary amide	A derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group.		mondo.json	primary amide|primary amides	http://purl.obolibrary.org/obo/CHEBI_33256		
GO:0071626	biolink:NamedThing	mastication	The process of biting and mashing food with the teeth prior to swallowing.		mondo.json	chewing	http://purl.obolibrary.org/obo/GO_0071626		
CHEBI:33259	biolink:ChemicalSubstance	elemental molecular entity	A molecular entity all atoms of which have the same atomic number.		mondo.json	homoatomic molecular entity|homoatomic entity|homoatomic molecular entities	http://purl.obolibrary.org/obo/CHEBI_33259		
GO:0071625	biolink:NamedThing	vocalization behavior	The behavior in which an organism produces sounds by a mechanism involving its respiratory system.		mondo.json	vocalisation behaviour	http://purl.obolibrary.org/obo/GO_0071625		
GO:0071624	biolink:NamedThing	positive regulation of granulocyte chemotaxis	Any process that increases the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0071624		
GO:0071623	biolink:NamedThing	negative regulation of granulocyte chemotaxis	Any process that decreases the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0071623		
GO:0071622	biolink:NamedThing	regulation of granulocyte chemotaxis	Any process that modulates the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0071622		
GO:0071621	biolink:NamedThing	granulocyte chemotaxis	The movement of a granulocyte in response to an external stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0071621		
CHEBI:33250	biolink:ChemicalSubstance	atom	A chemical entity constituting the smallest component of an element having the chemical properties of the element.		mondo.json	atoms|atomus|atomo|element|elements|atom|atome	http://purl.obolibrary.org/obo/CHEBI_33250		
HGNC:924	biolink:NamedThing	B4GALT1			mondo.json		http://identifiers.org/hgnc/924		
CHEBI:33252	biolink:ChemicalSubstance	atomic nucleus	A nucleus is the positively charged central portion of an atom, excluding the orbital electrons.		mondo.json	nuclei|nucleo atomico|noyau atomique|noyau|nucleus atomi|nucleo|Atomkern|nucleus|Kern	http://purl.obolibrary.org/obo/CHEBI_33252		
HGNC:923	biolink:NamedThing	B3GAT3			mondo.json		http://identifiers.org/hgnc/923		
FOODON:03411324	biolink:NamedThing	grain plant	Any grass cultivated (grown) for the edible components of its grain.		mondo.json		http://purl.obolibrary.org/obo/FOODON_03411324		
UBERON:0004829	biolink:AnatomicalEntity	urethra skeletal muscle tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004829		
UBERON:0004827	biolink:AnatomicalEntity	thyroid gland medulla			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004827		
GO:0046676	biolink:NamedThing	negative regulation of insulin secretion	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of insulin.		mondo.json	down regulation of insulin secretion|inhibition of insulin secretion|downregulation of insulin secretion|down-regulation of insulin secretion	http://purl.obolibrary.org/obo/GO_0046676		
FOODON:03411328	biolink:NamedThing	goat			mondo.json	caprine|Capra hircus Linnaeus, 1758	http://purl.obolibrary.org/obo/FOODON_03411328		
CHEBI:59871	biolink:ChemicalSubstance	D-alpha-amino acid zwitterion	Zwitterionic form of a D-alpha-amino acid having an anionic carboxy group and a protonated amino group.		mondo.json	D-alpha-amino acid zwitterions|a D-alpha-amino acid	http://purl.obolibrary.org/obo/CHEBI_59871		
CHEBI:33266	biolink:ChemicalSubstance	diatomic nitrogen			mondo.json		http://purl.obolibrary.org/obo/CHEBI_33266		
CHEBI:33267	biolink:ChemicalSubstance	elemental nitrogen			mondo.json		http://purl.obolibrary.org/obo/CHEBI_33267		
UBERON:0004833	biolink:AnatomicalEntity	lip skeletal muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004833		
UBERON:0004834	biolink:AnatomicalEntity	hepatic duct smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004834		
UBERON:0004831	biolink:AnatomicalEntity	esophagus skeletal muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004831		
HGNC:939	biolink:NamedThing	BAG3			mondo.json		http://identifiers.org/hgnc/939		
UBERON:0004832	biolink:AnatomicalEntity	anal region skeletal muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004832		
GO:0009605	biolink:NamedThing	response to external stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external stimulus.		mondo.json	response to environmental stimulus	http://purl.obolibrary.org/obo/GO_0009605		
SO:0001059	biolink:SequenceFeature	sequence_alteration	A sequence_alteration is a sequence_feature whose extent is the deviation from another sequence.		mondo.json	partially characterised change in DNA sequence|partially_characterised_change_in_DNA_sequence|INSDC_note:sequence_alteration|uncharacterised_change_in_nucleotide_sequence|sequence variation|INSDC_feature:misc_feature|sequence alteration|INSDC_feature:variation	http://purl.obolibrary.org/obo/SO_0001059		
GO:0009607	biolink:NamedThing	response to biotic stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a biotic stimulus, a stimulus caused or produced by a living organism.		mondo.json	response to biotic stress	http://purl.obolibrary.org/obo/GO_0009607		
CHEBI:33261	biolink:ChemicalSubstance	organosulfur compound	An organosulfur compound is a compound containing at least one carbon-sulfur bond.		mondo.json	organosulfur compounds|organosulfur compound	http://purl.obolibrary.org/obo/CHEBI_33261		
UBERON:0004830	biolink:AnatomicalEntity	respiratory system skeletal muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004830		
CHEBI:33262	biolink:ChemicalSubstance	elemental oxygen			mondo.json		http://purl.obolibrary.org/obo/CHEBI_33262		
CHEBI:33263	biolink:ChemicalSubstance	diatomic oxygen			mondo.json		http://purl.obolibrary.org/obo/CHEBI_33263		
CHR:9606-chr5q14.3	biolink:NamedThing	5q14.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr5q14.3		
GO:0007076	biolink:NamedThing	mitotic chromosome condensation	The cell cycle process in which chromatin structure is compacted prior to and during mitosis in eukaryotic cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0007076		
MONDO:0054581	biolink:Disease	Townes-Brocks syndrome 1		OMIM:107480	mondo.json	rear syndrome|TBS1|townes-brocks branchiootorenal-like syndrome|renal-ear-anal-radial syndrome|anus, imperforate, with hand, Foot, and Ear anomalies|Townes-Brocks-branchiootorenal-like syndrome|deafness, sensorineural, with imperforate anus and thumb anomalies|Townes-Brocks syndrome 1	http://purl.obolibrary.org/obo/MONDO_0054581	https://omim.org/entry/107480	
UBERON:8400021	biolink:AnatomicalEntity	liver serosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_8400021		
UBERON:8400023	biolink:AnatomicalEntity	liver subserosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_8400023		
MONDO:0054582	biolink:Disease	Townes-Brocks syndrome 2		OMIM:617466	mondo.json	Townes-Brocks syndrome 2|TBS2	http://purl.obolibrary.org/obo/MONDO_0054582	https://omim.org/entry/617466	
MONDO:0054588	biolink:Disease	Noonan syndrome-like disorder with loose anagen hair 2		OMIM:617506	mondo.json	NSLH2|Noonan syndrome-like disorder with loose anagen hair 2	http://purl.obolibrary.org/obo/MONDO_0054588	https://omim.org/entry/617506	
GO:0007088	biolink:NamedThing	regulation of mitotic nuclear division	Any process that modulates the frequency, rate or extent of mitosis.		mondo.json	regulation of mitosis	http://purl.obolibrary.org/obo/GO_0007088		
HP:0031797	biolink:PhenotypicFeature	Clinical course	The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual.		mondo.json	Natural history of disease	http://purl.obolibrary.org/obo/HP_0031797		
CHR:9606-chr10q24	biolink:NamedThing	10q24 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr10q24		
MONDO:0054573	biolink:Disease	Lopes-Maciel-Rodan syndrome		OMIM:617435|UMLS:C4479491	mondo.json	LOMARS|Lopes-Maciel-Rodan syndrome	http://purl.obolibrary.org/obo/MONDO_0054573	https://omim.org/entry/617435|UMLS:C4479491	
CHR:9606-chr10q23	biolink:NamedThing	10q23 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr10q23		
NCIT:C19683	biolink:NamedThing	Personal Behavior	The observable response of a person.		mondo.json	Personal Conduct|Personal Behavior	http://purl.obolibrary.org/obo/NCIT_C19683		
GO:0032024	biolink:NamedThing	positive regulation of insulin secretion	Any process that activates or increases the frequency, rate or extent of the regulated release of insulin.		mondo.json	upregulation of insulin secretion|up-regulation of insulin secretion|up regulation of insulin secretion|activation of insulin secretion|stimulation of insulin secretion	http://purl.obolibrary.org/obo/GO_0032024		
MONDO:0054577	biolink:Disease	bleeding disorder, platelet-type, 21		OMIM:617443	mondo.json	bleeding disorder, platelet-type, 21|BDPLT21	http://purl.obolibrary.org/obo/MONDO_0054577	https://omim.org/entry/617443	
HGNC:27288	biolink:NamedThing	ACSF3			mondo.json		http://identifiers.org/hgnc/27288		
GO:0007059	biolink:NamedThing	chromosome segregation	The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles.		mondo.json	chromosome transmission|chromosome division	http://purl.obolibrary.org/obo/GO_0007059		
CHEBI:60895	biolink:ChemicalSubstance	D-alpha-amino acid anion	Any alpha-amino acid anion in which the parent amino acid has D-configuration.		mondo.json	D-alpha-amino acid anions|D-alpha-amino carboxylate	http://purl.obolibrary.org/obo/CHEBI_60895		
MONDO:0054591	biolink:Disease	Stankiewicz-Isidor syndrome	A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems.	OMIM:617516|UMLS:C4479599	mondo.json	Stankiewicz-Isidor syndrome|STISS	http://purl.obolibrary.org/obo/MONDO_0054591	UMLS:C4479599|https://omim.org/entry/617516	
MONDO:0054593	biolink:Disease	microcephaly 18, primary, autosomal dominant		DOID:0070295|OMIM:617520|UMLS:C4479608	mondo.json	MCPH18|primary autosomal dominant microcephaly 18|microcephaly 18, primary, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0054593	DOID:0070295|UMLS:C4479608|https://omim.org/entry/617520	
ENVO:00010505	biolink:NamedThing	aerosol	Airborne solid particles (also called dust or particulate matter (PM)) or liquid droplets.		mondo.json		http://purl.obolibrary.org/obo/ENVO_00010505		
FOODON:03411374	biolink:NamedThing	crustacean	Crustaceans form a large, diverse arthropod taxon which includes such familiar animals as crabs, lobsters, crayfish, shrimp, krill, woodlice, and barnacles. [https://en.wikipedia.org/wiki/Crustacean]		mondo.json		http://purl.obolibrary.org/obo/FOODON_03411374		
GO:0007036	biolink:NamedThing	vacuolar calcium ion homeostasis	Any process involved in the maintenance of an internal steady state of calcium ions in the vacuole or between a vacuole and its surroundings.		mondo.json		http://purl.obolibrary.org/obo/GO_0007036		
ENVO:00010504	biolink:NamedThing	surface layer	A layer of some material entity which is adjacent to one or more of its external boundaries and directly interacts with its immediate surroundings.		mondo.json		http://purl.obolibrary.org/obo/ENVO_00010504		
GO:0007034	biolink:NamedThing	vacuolar transport	The directed movement of substances into, out of or within a vacuole.		mondo.json		http://purl.obolibrary.org/obo/GO_0007034		
GO:0007041	biolink:NamedThing	lysosomal transport	The directed movement of substances into, out of or within a lysosome.		mondo.json		http://purl.obolibrary.org/obo/GO_0007041		
GO:0034650	biolink:NamedThing	cortisol metabolic process	The chemical reactions and pathways involving cortisol, the steroid hormone 11-beta-17,21-trihydroxypregn-4-ene-3,20-dione. Cortisol is synthesized from cholesterol in the adrenal gland and controls carbohydrate, fat and protein metabolism and has anti-inflammatory properties.		mondo.json	cortisol metabolism	http://purl.obolibrary.org/obo/GO_0034650		
GO:0034651	biolink:NamedThing	cortisol biosynthetic process	The chemical reactions and pathways resulting in the formation of cortisol, the steroid hormone 11-beta-17,21-trihydroxypregn-4-ene-3,20-dione. Cortisol is synthesized from cholesterol in the adrenal gland and controls carbohydrate, fat and protein metabolism and has anti-inflammatory properties.		mondo.json	cortisol formation|cortisol anabolism|cortisol synthesis|cortisol biosynthesis	http://purl.obolibrary.org/obo/GO_0034651		
GO:0034654	biolink:NamedThing	nucleobase-containing compound biosynthetic process	The chemical reactions and pathways resulting in the formation of nucleobases, nucleosides, nucleotides and nucleic acids.		mondo.json	nucleobase, nucleoside, nucleotide and nucleic acid formation|nucleobase, nucleoside, nucleotide and nucleic acid synthesis|nucleobase, nucleoside, nucleotide and nucleic acid anabolism|nucleobase, nucleoside, nucleotide and nucleic acid biosynthesis	http://purl.obolibrary.org/obo/GO_0034654		
GO:0034655	biolink:NamedThing	nucleobase-containing compound catabolic process	The chemical reactions and pathways resulting in the breakdown of nucleobases, nucleosides, nucleotides and nucleic acids.		mondo.json	nucleobase, nucleoside, nucleotide and nucleic acid breakdown|nucleobase, nucleoside, nucleotide and nucleic acid catabolism|nucleobase, nucleoside, nucleotide and nucleic acid catabolic process|nucleobase, nucleoside, nucleotide and nucleic acid degradation	http://purl.obolibrary.org/obo/GO_0034655		
GO:0007049	biolink:NamedThing	cell cycle	The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.		mondo.json	cell-division cycle	http://purl.obolibrary.org/obo/GO_0007049		
GO:0034641	biolink:NamedThing	cellular nitrogen compound metabolic process	The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds, as carried out by individual cells.		mondo.json	cellular nitrogen compound metabolism	http://purl.obolibrary.org/obo/GO_0034641		
GO:0034644	biolink:NamedThing	cellular response to UV	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers.		mondo.json	cellular response to UV light stimulus|cellular response to ultraviolet light stimulus|cellular response to UV radiation stimulus|cellular response to ultraviolet radiation stimulus	http://purl.obolibrary.org/obo/GO_0034644		
GO:0034645	biolink:NamedThing	cellular macromolecule biosynthetic process	The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, carried out by individual cells.		mondo.json	cellular macromolecule anabolism|cellular macromolecule biosynthesis|cellular macromolecule synthesis|cellular biopolymer biosynthetic process|cellular macromolecule formation	http://purl.obolibrary.org/obo/GO_0034645		
MONDO:0054559	biolink:Disease	congenital disorder of glycosylation, type IIq		UMLS:C4479353|Orphanet:435934|DOID:0070269|OMIM:617395	mondo.json	CDG Iiq|COG2-CDG|CDG2Q|COG2-related congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0054559	DOID:0070269|UMLS:C4479353|https://omim.org/entry/617395|Orphanet:435934	ordo_disease
GO:0007018	biolink:NamedThing	microtubule-based movement	A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components.  Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules.		mondo.json		http://purl.obolibrary.org/obo/GO_0007018		
GO:0007017	biolink:NamedThing	microtubule-based process	Any cellular process that depends upon or alters the microtubule cytoskeleton, that part of the cytoskeleton comprising microtubules and their associated proteins.		mondo.json		http://purl.obolibrary.org/obo/GO_0007017		
GO:0010669	biolink:NamedThing	epithelial structure maintenance	A tissue homeostatic process required for the maintenance of epithelial structure.		mondo.json		http://purl.obolibrary.org/obo/GO_0010669		
GO:0034637	biolink:NamedThing	cellular carbohydrate biosynthetic process	The chemical reactions and pathways resulting in the formation of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, carried out by individual cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0034637		
GO:0007010	biolink:NamedThing	cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures.		mondo.json	cytoskeleton organization and biogenesis|cytoskeletal regulator activity|cytoskeleton organisation|cytoskeletal organization and biogenesis	http://purl.obolibrary.org/obo/GO_0007010		
MONDO:0054561	biolink:Disease	anauxetic dysplasia 2		OMIM:617396	mondo.json	anauxetic dysplasia 2|ANXD2	http://purl.obolibrary.org/obo/MONDO_0054561	https://omim.org/entry/617396	
MONDO:0054560	biolink:Disease	anauxetic dysplasia 1		OMIM:607095	mondo.json	spondylometaepiphyseal dysplasia, Menger type|spondylometaepiphyseal dysplasia, anauxetic type|anauxetic dysplasia 1|anauxetic dysplasia|spondyloepimetaphyseal dysplasia, anauxetic type|ANXD1	http://purl.obolibrary.org/obo/MONDO_0054560	https://omim.org/entry/607095	
MONDO:0054565	biolink:Disease	short-rib thoracic dysplasia 17 with or without polydactyly		OMIM:617405	mondo.json	short-rib thoracic dysplasia 17 with or without POLYDACTYLY|SRTD17	http://purl.obolibrary.org/obo/MONDO_0054565	https://omim.org/entry/617405	
MONDO:0054549	biolink:Disease	peroxisome biogenesis disorder 10B		OMIM:617370	mondo.json	peroxisome biogenesis disorder 10B|PBD10B	http://purl.obolibrary.org/obo/MONDO_0054549	https://omim.org/entry/617370	
CHR:9606-chr22q13	biolink:NamedThing	22q13 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr22q13		
UBERON:8400024	biolink:AnatomicalEntity	subcapsular region of liver			mondo.json		http://purl.obolibrary.org/obo/UBERON_8400024		
CHR:9606-chr22q11	biolink:NamedThing	22q11 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr22q11		
GO:0010677	biolink:NamedThing	negative regulation of cellular carbohydrate metabolic process	Any process that decreases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0010677		
GO:0010678	biolink:NamedThing	negative regulation of cellular carbohydrate metabolic process by negative regulation of transcription, DNA-templated	Any cellular process that decreases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates carried out by repression of transcription.		mondo.json	negative regulation of cellular carbohydrate metabolic process by transcriptional repression|negative regulation of cellular carbohydrate metabolic process by repression of transcription|negative regulation of cellular carbohydrate metabolic process by negative regulation of transcription, DNA-dependent	http://purl.obolibrary.org/obo/GO_0010678		
GO:0010672	biolink:NamedThing	regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle	Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter as part of the meiotic cell cycle.		mondo.json	regulation of meiosis by regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter, meiotic	http://purl.obolibrary.org/obo/GO_0010672		
GO:0010675	biolink:NamedThing	regulation of cellular carbohydrate metabolic process	Any process that modulates the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0010675		
GO:0010676	biolink:NamedThing	positive regulation of cellular carbohydrate metabolic process	Any process that increases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0010676		
GO:0010673	biolink:NamedThing	positive regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle	Any process that increases the frequency, rate or extent of transcription from an RNA polymerase II promoter as part of the meiotic cell cycle.		mondo.json	up-regulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|up regulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|upregulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|activation of meiosis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter, meiotic|stimulation of meiosis by positive regulation of transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0010673		
GO:0034622	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0034622		
GO:0010674	biolink:NamedThing	negative regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle	Any process that decreases the frequency, rate or extent of transcription from an RNA polymerase II promoter as part of the meiotic cell cycle.		mondo.json	stimulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|up-regulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|up regulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter, meiotic|positive regulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|upregulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|activation of meiosis by negative regulation of transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0010674		
MONDO:0054551	biolink:Disease	avascular necrosis of femoral head, primary, 2		OMIM:617383	mondo.json	ANFH2|avascular necrosis of femoral head, primary, 2	http://purl.obolibrary.org/obo/MONDO_0054551	https://omim.org/entry/617383	
MONDO:0054550	biolink:Disease	avascular necrosis of femoral head, primary, 1		OMIM:608805	mondo.json	femoral head, aseptic necrosis of|osteonecrosis of femoral head|ANFH1|avascular necrosis of the femoral head|avascular necrosis of femoral head, primary, 1|ischemic necrosis of femoral head|Femoral head, avascular necrosis of	http://purl.obolibrary.org/obo/MONDO_0054550	https://omim.org/entry/608805	
HGNC:30892	biolink:NamedThing	HUWE1			mondo.json		http://identifiers.org/hgnc/30892		
MONDO:0003029	biolink:Disease	skin angiosarcoma	A malignant vascular neoplasm arising from the skin.	UMLS:C0346081|NCIT:C4489|DOID:4517|SCTID:254794007	mondo.json	skin hemangiosarcoma|hemangiosarcoma of the skin|angiosarcoma (disease) of zone of skin|angiosarcoma of skin|hemangiosarcoma of skin|angiosarcoma of the skin|skin angiosarcoma|zone of skin angiosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0003029	UMLS:C0346081|NCIT:C4489|DOID:4517|http://identifiers.org/snomedct/254794007	
MONDO:0054615	biolink:Disease	spermatogenic failure 18		DOID:0070165|OMIM:617576	mondo.json	spermatogenic failure 18|SPGF18	http://purl.obolibrary.org/obo/MONDO_0054615	https://omim.org/entry/617576|DOID:0070165	
HGNC:9060	biolink:NamedThing	PLCD1			mondo.json		http://identifiers.org/hgnc/9060		
MONDO:0003025	biolink:Disease	conventional angiosarcoma	An angiosarcoma characterized by the presence of malignant spindle endothelial cells.	NCIT:C9426|DOID:4512|UMLS:C1333155	mondo.json	conventional angiosarcoma	http://purl.obolibrary.org/obo/MONDO_0003025	UMLS:C1333155|NCIT:C9426|DOID:4512	
MONDO:0005688	biolink:Disease	campylobacteriosis	Infections with bacteria of the genus campylobacter.	SCTID:86500004|EFO:0007190|DOID:13622|MESH:D002169|UMLS:C0006818	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005688	http://identifiers.org/mesh/D002169|DOID:13622|UMLS:C0006818|http://identifiers.org/snomedct/86500004	
MONDO:0005687	biolink:Disease	Caliciviridae infectious disease	Virus diseases caused by caliciviridae. They include hepatitis E; vesicular exanthema of swine; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans.	EFO:0007189|MESH:D017250	mondo.json	infection, Caliciviridae|infection, Calicivirus|Calicivirus infections|Caliciviridae infection|Calicivirus infection|infections, Caliciviridae|infections, Calicivirus	http://purl.obolibrary.org/obo/MONDO_0005687	http://identifiers.org/mesh/D017250	
MONDO:0003026	biolink:Disease	gallbladder angiosarcoma	An angiosarcoma that is located in the gallbladder.	NCIT:C5840|DOID:4513|UMLS:C1333742	mondo.json	angiosarcoma of gallbladder|hemangiosarcoma of gallbladder|gallbladder angiosarcoma|angiosarcoma (disease) of gall bladder|gall bladder angiosarcoma (disease)|gallbladder hemangiosarcoma|hemangiosarcoma of the gallbladder|angiosarcoma of the gallbladder	http://purl.obolibrary.org/obo/MONDO_0003026	NCIT:C5840|UMLS:C1333742|DOID:4513	
MONDO:0003027	biolink:Disease	thyroid gland angiosarcoma	A usually aggressive malignant vascular tumor primarily involving the thyroid gland. It is often associated with longstanding nodular goiter.	UMLS:C1336748|NCIT:C6043|DOID:4514	mondo.json	thyroid angiosarcoma|thyroid gland angiosarcoma|angiosarcoma of the thyroid gland|hemangiosarcoma of the thyroid gland|thyroid gland hemangiosarcoma|hemangiosarcoma of the thyroid|angiosarcoma of thyroid gland|hemangiosarcoma of thyroid gland|angiosarcoma of the thyroid|thyroid hemangiosarcoma|angiosarcoma of thyroid|hemangiosarcoma of thyroid|thyroid gland angiosarcoma (disease)|angiosarcoma (disease) of thyroid gland|thyroid gland malignant hemangioendothelioma	http://purl.obolibrary.org/obo/MONDO_0003027	UMLS:C1336748|DOID:4514|NCIT:C6043	
MONDO:0003028	biolink:Disease	thyroid sarcoma	A malignant soft tissue neoplasm primarily involving the thyroid gland.	NCIT:C6041|DOID:4515|UMLS:C1336756|EFO:1001971	mondo.json	sarcoma of thyroid gland|sarcoma of the thyroid gland|thyroid sarcoma|sarcoma of the thyroid|sarcoma of thyroid|thyroid gland sarcoma	http://purl.obolibrary.org/obo/MONDO_0003028	UMLS:C1336756|DOID:4515|NCIT:C6041	
MONDO:0005689	biolink:Disease	cannabis dependence	Physical and psychological dependence on the drug cannabis.	MESH:D002189|NCIT:C34445|SCTID:85005007|ICD9:304.30|EFO:0007191|ICD9:305.2|DOID:1849|ICD9:304.3|SCTID:37344009|DOID:9505	mondo.json	cannabis abuse|marijuana dependence|marijuana abuse	http://purl.obolibrary.org/obo/MONDO_0005689	http://identifiers.org/mesh/D002189|http://identifiers.org/snomedct/85005007|NCIT:C34445|http://identifiers.org/snomedct/37344009|DOID:9505|DOID:1849	
MONDO:0003021	biolink:Disease	central nervous system angiosarcoma	A malignant vascular neoplasm arising from the brain, spinal cord or meninges.	DOID:4504|UMLS:C1332875|NCIT:C5450	mondo.json	central nervous system angiosarcoma (disease)|angiosarcoma of central nervous system|hemangiosarcoma of central nervous system|angiosarcoma of the central nervous system|hemangiosarcoma of the central nervous system|hemangiosarcoma of the CNS|central nervous system hemangiosarcoma|CNS angiosarcoma|central nervous system angiosarcoma|angiosarcoma of the CNS|CNS hemangiosarcoma|angiosarcoma of CNS|hemangiosarcoma of CNS|angiosarcoma (disease) of central nervous system	http://purl.obolibrary.org/obo/MONDO_0003021	UMLS:C1332875|DOID:4504|NCIT:C5450	
MONDO:0005684	biolink:Disease	bulbar polio	A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765)	MESH:D011052|UMLS:C0032372|ICD9:045.0|EFO:0007186|DOID:9786	mondo.json	poliomyelitis, medullary involvement|medullary involvement poliomyelitis|bulbar poliomyelitis|polio, bulbar|bulbar polio	http://purl.obolibrary.org/obo/MONDO_0005684	http://identifiers.org/mesh/D011052|DOID:9786|UMLS:C0032372	
MONDO:0003022	biolink:Disease	pediatric angiosarcoma	An angiosarcoma occurring in childhood.	UMLS:C0279988|DOID:4505|NCIT:C9174	mondo.json	childhood angiosarcoma (disease)|childhood angiosarcoma|childhood hemangiosarcoma|pediatric angiosarcoma (disease)|angiosarcoma|pediatric hemangiosarcoma|angiosarcoma (disease) of childhood|pediatric angiosarcoma	http://purl.obolibrary.org/obo/MONDO_0003022	NCIT:C9174|UMLS:C0279988|DOID:4505	
MONDO:0005683	biolink:Disease	brucellosis	Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart (endocarditis), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen. People who are in jobs or settings that increase exposure to the bacteria are at increased risk for infection. Antibiotics are used to treat brucellosis. Recovery may take a few weeks to several months, and relapses are common. Death from brucellosis is rare, occurring in no more than 2% of cases.	Orphanet:1304|ICD10CM:A23|DOID:11077|GARD:0005966|SCTID:75702008|ICD9:023.9|MedDRA:10006500|ICD9:023|UMLS:C0006309|NCIT:C84602|MESH:D002006|EFO:0007185	mondo.json	Cyprus fever|bang's disease|Rock fever|undulant fever|Gibraltar fever|Mediterranean fever|Malta fever|Maltese fever	http://purl.obolibrary.org/obo/MONDO_0005683	http://identifiers.org/snomedct/75702008|Orphanet:1304|http://purl.bioontology.org/ontology/ICD10CM/A23|UMLS:C0006309|DOID:11077|NCIT:C84602|http://identifiers.org/mesh/D002006	ordo_disease|gard_rare
MONDO:0003023	biolink:Disease	aorta angiosarcoma	A malignant vascular neoplasm arising from the aorta.	NCIT:C5376|UMLS:C1332312|DOID:4510	mondo.json	aortic angiosarcoma|angiosarcoma of the aorta|hemangiosarcoma of the aorta|angiosarcoma of aorta|hemangiosarcoma of aorta|angiosarcoma (disease) of aorta|aorta angiosarcoma (disease)|aortic hemangiosarcoma	http://purl.obolibrary.org/obo/MONDO_0003023	UMLS:C1332312|DOID:4510|NCIT:C5376	
MONDO:0005686	biolink:Disease	obsolete Bunyaviridae infectious disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005686		
MONDO:0005685	biolink:Disease	obsolete bullous pemphigoid			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005685		
MONDO:0003024	biolink:Disease	breast angiosarcoma	A malignant vascular neoplasm arising from the breast.	MESH:C536368|NCIT:C5184|DOID:4511|UMLS:C1332614|ONCOTREE:BA|GARD:0009974	mondo.json	BA|breast hemangiosarcoma|breast angiosarcoma (disease)|angiosarcoma (disease) of breast|angiosarcoma of breast|hemangiosarcoma of breast|angiosarcoma of the breast|breast angiosarcoma|hemangiosarcoma of the breast	http://purl.obolibrary.org/obo/MONDO_0003024	UMLS:C1332614|http://identifiers.org/mesh/C536368|DOID:4511|NCIT:C5184	gard_rare
MONDO:0005680	biolink:Disease	Brill-Zinsser disease	A delayed relapse of epidemic typhus, caused by Rickettsia prowazekii.	UMLS:C0006181|EFO:0007182|DOID:11254|SCTID:47761007|Orphanet:99990|ICD9:081.1	mondo.json	latent typhus|recrudescent typhus|Brill's disease|sporadic typhus|Brill disease|Brill Zinsser disease	http://purl.obolibrary.org/obo/MONDO_0005680	Orphanet:99990|http://identifiers.org/snomedct/47761007|UMLS:C0006181|DOID:11254	ordo_clinical_subtype
MONDO:0005682	biolink:Disease	bronchopneumonia	Acute inflammation of the walls of the terminal bronchioles that spreads into the peribronchial alveoli and alveolar ducts. It results in the creation of foci of consolidation, which are surrounded by normal parenchyma. It affects one or more lobes, and is frequently bilateral and basal. It is usually caused by bacteria (e.g., Staphylococcus, Streptococcus, Haemophilus influenzae). Signs and symptoms include fever, cough with production of brown-red sputum, dyspnea, and chest pain.	EFO:0007184|ICD9:485|SCTID:396285007|DOID:12375|NCIT:C26710|UMLS:C0006285|MESH:D001996	mondo.json	lobular pneumonia|chest infection - bronchopneumonia|bronchial pneumonia|chest infection - unspecified bronchopneumonia	http://purl.obolibrary.org/obo/MONDO_0005682	http://identifiers.org/snomedct/396285007|http://identifiers.org/mesh/D001996|UMLS:C0006285|DOID:12375|NCIT:C26710	
MONDO:0005681	biolink:Disease	obsolete MONDO:0005681			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005681		
MONDO:0003020	biolink:Disease	obsolete orofaciodigital syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003020		
MONDO:0015018	biolink:Disease	ichthyosis, congenital, autosomal recessive 12	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CASP14 gene.	OMIM:617320|UMLS:C4310621	mondo.json	ichthyosis, congenital, autosomal recessive 12|ARCI12|ichthyosis, congenital, autosomal recessive 12; ARCI12|ichthyosis, congenital, autosomal recessive type 12	http://purl.obolibrary.org/obo/MONDO_0015018	UMLS:C4310621|https://omim.org/entry/617320	
HP:0031703	biolink:PhenotypicFeature	Abnormal ear morphology	Any structural anomaly of the ear.	Fyler:4867	mondo.json		http://purl.obolibrary.org/obo/HP_0031703		
MONDO:0015017	biolink:Disease	anterior segment dysgenesis 8	Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene.	DOID:0080613|Orphanet:519388|UMLS:C4310622|OMIM:617319	mondo.json	anterior segment dysgenesis caused by mutation in CPAMD8|anterior segment dysgenesis 8|anterior segment dysgenesis type 8|ASGD8|CPAMD8 anterior segment dysgenesis	http://purl.obolibrary.org/obo/MONDO_0015017	UMLS:C4310622|https://omim.org/entry/617319|DOID:0080613|Orphanet:519388	
HP:0031704	biolink:PhenotypicFeature	Abnormal ear physiology	Any functional anomaly of the ear.		mondo.json		http://purl.obolibrary.org/obo/HP_0031704		
MONDO:0015016	biolink:Disease	anterior segment dysgenesis 6		DOID:0080611|UMLS:C4310623|OMIM:617315	mondo.json	ASGD6|anterior segment dysgenesis 6|anterior segment dysgenesis type 6|anterior segment dysgenesis 6, multiple subtypes	http://purl.obolibrary.org/obo/MONDO_0015016	UMLS:C4310623|https://omim.org/entry/617315|DOID:0080611	
MONDO:0015015	biolink:Disease	congenital bile acid synthesis defect 6	Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene.	DOID:0111067|UMLS:C4310624|OMIM:617308	mondo.json	bile acid synthesis defect, congenital, 6|congenital bile acid synthesis defect type 6|ACOX2 congenital bile acid synthesis defect|congenital bile acid synthesis defect caused by mutation in ACOX2|bile acid synthesis defect, congenital, type 6|CBAS6	http://purl.obolibrary.org/obo/MONDO_0015015	UMLS:C4310624|https://omim.org/entry/617308|DOID:0111067	
MONDO:0017677	biolink:Disease	focal acral hyperkeratosis		Orphanet:308013|SCTID:400115004|UMLS:C1302839	mondo.json	PPPK3 without elastoidosis|PPKP3 without elastoidosis|punctate palmoplantar keratoderma type 3 without elastoidosis|punctate palmoplantar hyperkeratosis type 3 without elastoidosis	http://purl.obolibrary.org/obo/MONDO_0017677	http://identifiers.org/snomedct/400115004|UMLS:C1302839|Orphanet:308013	ordo_disease
MONDO:0017678	biolink:Disease	obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature	OBSOLETE. A disease in which punctate palmoplantar keratoderma is a major feature..	Orphanet:308023|UMLS:CN203565	mondo.json	disease with punctate palmoplantar hyperkeratosis as a major feature	http://purl.obolibrary.org/obo/MONDO_0017678	Orphanet:308023	
NCBITaxon:58839	biolink:OrganismalEntity	Encephalitozoon intestinalis		GC_ID:1	mondo.json	Septata intestinalis	http://purl.obolibrary.org/obo/NCBITaxon_58839		
MONDO:0017679	biolink:Disease	obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature		Orphanet:308031|UMLS:CN203566	mondo.json	autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature	http://purl.obolibrary.org/obo/MONDO_0017679	UMLS:CN203566|Orphanet:308031	
MONDO:0015019	biolink:Disease	Yao syndrome	An an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants.	OMIM:617321|SCTID:768667002|UMLS:C4310620	mondo.json	YAOS|Yao syndrome	http://purl.obolibrary.org/obo/MONDO_0015019	UMLS:C4310620|https://omim.org/entry/617321|http://identifiers.org/snomedct/768667002	predisposition
MONDO:0017673	biolink:Disease	isolated focal palmoplantar keratoderma	A focal palmoplantar keratoderma that is not part of a larger syndrome.	Orphanet:307846	mondo.json	isolated focal keratosis palmoplantaris|isolated focal palmoplantar hyperkeratosis|nonsyndromic focal palmoplantar keratoderma|isolated focal PPK	http://purl.obolibrary.org/obo/MONDO_0017673	Orphanet:307846	ordo_group_of_disorders|disease_grouping
MONDO:0015010	biolink:Disease	atypical glycine encephalopathy	Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE.	Orphanet:289863|OMIM:617301|UMLS:C4310943	mondo.json	atypical NKA|Glycine encephalopathy with normal serum Glycine|GLYCINE encephalopathy with normal serum GLYCINE|atypical non-ketotic hyperglycinemia	http://purl.obolibrary.org/obo/MONDO_0015010	UMLS:C4310943|https://omim.org/entry/617301|Orphanet:289863	ordo_clinical_subtype
HGNC:9067	biolink:NamedThing	PLD1			mondo.json		http://identifiers.org/hgnc/9067		
MONDO:0017674	biolink:Disease	obsolete disease with focal palmoplantar keratoderma as a major feature	OBSOLETE. A disease in which focal palmoplantar keratoderma is a major feature..	Orphanet:307871|UMLS:CN203558	mondo.json	disease with focal palmoplantar hyperkeratosis as a major feature	http://purl.obolibrary.org/obo/MONDO_0017674	UMLS:CN203558|Orphanet:307871	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0017675	biolink:Disease	punctate palmoplantar keratoderma	A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.	SCTID:402773000|Orphanet:307967|DOID:0060361|UMLS:C4024851	mondo.json	punctate PPK|punctate keratosis palmoplantaris|punctate palmoplantar hyperkeratosis	http://purl.obolibrary.org/obo/MONDO_0017675	Orphanet:307967|DOID:0060361|http://identifiers.org/snomedct/402773000|UMLS:C4024851	ordo_group_of_disorders|disease_grouping
MONDO:0017676	biolink:Disease	marginal papular palmoplantar keratoderma		Orphanet:307995	mondo.json	marginal papular palmoplantar hyperkeratosis	http://purl.obolibrary.org/obo/MONDO_0017676	Orphanet:307995	disease_grouping|ordo_group_of_disorders
HGNC:9066	biolink:NamedThing	PLCG2			mondo.json		http://identifiers.org/hgnc/9066		
MONDO:0015014	biolink:Disease	coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness		UMLS:C4310625|Orphanet:603494|OMIM:617306	mondo.json	coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness|COMMAD syndrome|COMMAD|coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness; COMMAD	http://purl.obolibrary.org/obo/MONDO_0015014	UMLS:C4310625|https://omim.org/entry/617306|Orphanet:603494	
CHR:9606-chr6p22	biolink:NamedThing	6p22 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr6p22		
MONDO:0015013	biolink:Disease	retinitis pigmentosa 77	Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene.	OMIM:617304|DOID:0080350|UMLS:C4310626	mondo.json	retinitis pigmentosa caused by mutation in REEP6|RP77|retinitis pigmentosa type 77|REEP6 retinitis pigmentosa|retinitis pigmentosa 77	http://purl.obolibrary.org/obo/MONDO_0015013	UMLS:C4310626|DOID:0080350|https://omim.org/entry/617304	
MONDO:0017670	biolink:Disease	autosomal dominant diffuse mutilating palmoplantar keratoderma		UMLS:CN229100|Orphanet:307773	mondo.json	autosomal dominant diffuse mutilating palmoplantar hyperkeratosis	http://purl.obolibrary.org/obo/MONDO_0017670	UMLS:CN229100|Orphanet:307773	disease_grouping|ordo_group_of_disorders
MONDO:0017671	biolink:Disease	obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature		Orphanet:307804|UMLS:CN203557	mondo.json	autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature	http://purl.obolibrary.org/obo/MONDO_0017671	UMLS:CN203557|Orphanet:307804	ordo_group_of_disorders|disease_grouping|obsoletion_candidate
MONDO:0015012	biolink:Disease	mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		OMIM:617303|Orphanet:505248|UMLS:C4310627	mondo.json	MPSPS|mucopolysaccharidosis-plus syndrome|mucopolysaccharidosis-like plus disease	http://purl.obolibrary.org/obo/MONDO_0015012	UMLS:C4310627|https://omim.org/entry/617303|Orphanet:505248	ordo_malformation_syndrome
HGNC:9069	biolink:NamedThing	PLEC			mondo.json		http://identifiers.org/hgnc/9069		
MONDO:0017672	biolink:Disease	focal palmoplantar keratoderma		Orphanet:307837	mondo.json	focal palmoplantar hyperkeratosis|focal PPK|focal keratosis palmoplantaris	http://purl.obolibrary.org/obo/MONDO_0017672	Orphanet:307837	disease_grouping|ordo_group_of_disorders
MONDO:0015011	biolink:Disease	optic atrophy 11	Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene.	UMLS:CN230145|DOID:0111436|OMIM:617302|UMLS:C4310628	mondo.json	optic atrophy 11|YME1L1 autosomal recessive isolated optic atrophy|OPA11|optic atrophy type 11|autosomal recessive isolated optic atrophy caused by mutation in YME1L1	http://purl.obolibrary.org/obo/MONDO_0015011	UMLS:C4310628|UMLS:CN230145|https://omim.org/entry/617302|DOID:0111436	
HGNC:9071	biolink:NamedThing	PLG			mondo.json		http://identifiers.org/hgnc/9071		
MONDO:0054602	biolink:Disease	gaze palsy, familial horizontal, with progressive scoliosis, 2		UMLS:C4479640|OMIM:617542	mondo.json	HGPPS2|gaze palsy, familial horizontal, with progressive scoliosis, 2	http://purl.obolibrary.org/obo/MONDO_0054602	UMLS:C4479640|https://omim.org/entry/617542	
MONDO:0054601	biolink:Disease	pituitary adenoma 5, multiple types		UMLS:C4539685|OMIM:617540	mondo.json	pituitary adenoma 5, multiple types|PITA5	http://purl.obolibrary.org/obo/MONDO_0054601	https://omim.org/entry/617540|UMLS:C4539685	
MONDO:0003036	biolink:Disease	mucoepidermoid carcinoma	A carcinoma morphologically characterized the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. It can occur in several anatomic sites, including parotid gland, oral cavity, paranasal sinus, skin, breast, lung, larynx, and lacrimal ducts. It is classified as low or high grade.	EFO:1001049|ONCOTREE:MUCC|MESH:D018298|MESH:D018277|DOID:163|GARD:0010671|DOID:4531|ICDO:8430/3|ICDO:8430/1|NCIT:C3772|UMLS:C0206694	mondo.json	MUCC|tumor, mucoepidermoid|mucoepidermoid carcinoma|mucoepidermoid tumors|tumors, mucoepidermoid|MEC|mucoepidermoid tumor|mucoepidermoid carcinoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003036	NCIT:C3772|DOID:4531|UMLS:C0206694|http://identifiers.org/mesh/D018277|http://identifiers.org/mesh/D018298	gard_rare
MONDO:0005699	biolink:Disease	cervicofacial actinomycosis	A form of actinomycosis characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses.	ICD9:039.3|MESH:D000197|UMLS:C0001264|NCIT:C34351|EFO:0007203|SCTID:23014006|ICD10CM:A42.2	mondo.json	lumpy jaw|cervicofacial actinomycotic infection	http://purl.obolibrary.org/obo/MONDO_0005699	UMLS:C0001264|http://identifiers.org/mesh/D000197|NCIT:C34351|http://purl.bioontology.org/ontology/ICD10CM/A42.2|http://identifiers.org/snomedct/23014006	
MONDO:0005698	biolink:Disease	cervical incompetence	A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis.	DOID:9681|ICD9:654.50|ICD9:622.5|SCTID:17382005|EFO:0007202|MESH:D002581	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005698	http://identifiers.org/mesh/D002581|http://identifiers.org/snomedct/17382005|DOID:9681	
MONDO:0003037	biolink:Disease	hypotrichosis	A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body.	SCTID:53602002|DOID:4535|OMIMPS:605389|ICD9:704.09|NCIT:C34720|MESH:D007039	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003037	http://identifiers.org/snomedct/53602002|https://omim.org/phenotypicSeries/PS605389|http://identifiers.org/mesh/D007039|DOID:4535|NCIT:C34720	
HGNC:9075	biolink:NamedThing	SERPINF2			mondo.json		http://identifiers.org/hgnc/9075		
NCBITaxon:46839	biolink:OrganismalEntity	Colorado tick fever virus		GC_ID:1	mondo.json	CTFV	http://purl.obolibrary.org/obo/NCBITaxon_46839		
MONDO:0003038	biolink:Disease	dysgraphia	Loss or impairment of the ability to write (letters, syllables, words, or phrases) due to an injury to a specific cerebral area or occasionally due to emotional factors. This condition rarely occurs in isolation, and often accompanies aphasia. (From Adams et al., Principles of Neurology, 6th ed, p485; apa, Thesaurus of Psychological Index Terms, 1994)	HP:0010526|DOID:4540	mondo.json	dysgraphia|dysgraphia (disease)	http://purl.obolibrary.org/obo/MONDO_0003038	DOID:4540	
MONDO:0003039	biolink:Disease	nominal aphasia	Impaired ability to retrieve words; in particular, an inability to recall the names of objects and people.	MESH:D000849|DOID:4541	mondo.json	anomia|anomic aphasia (finding)|anomic aphasia	http://purl.obolibrary.org/obo/MONDO_0003039	DOID:4541|http://identifiers.org/mesh/D000849	
MONDO:0005695	biolink:Disease	central nervous system AIDS arteritis	Inflammation of arteries in the central nervous system that occurs in patients with acquired immunodeficiency syndrome or aids-related opportunistic infections.	UMLS:C0752331|UMLS:C0752330|UMLS:C0752329|MESH:D020943|EFO:0007198	mondo.json	CNS vasculitis, HIV-associated|HIV-associated CNS vasculitis|vasculitis, HIV-associated CNS|Vasculitides, HIV-associated CNS|CNS Vasculitides, HIV-associated|HIV-associated CNS Vasculitides|HIV 1 associated CNS vasculitis|CNS vasculitis, HIV-1-associated|vasculitis, HIV-1-associated CNS|CNS Vasculitides, HIV-1-associated|Vasculitides, HIV-1-associated CNS|vasculitis of the central nervous system, HIV associated|vasculitis of the central nervous system, HIV-associated|AIDS-associated cerebral aneurysmal arteriopathy|HIV-associated vasculitis of the central nervous system|HIV associated vasculitis of the central nervous system|AIDS associated cerebral aneurysmal arteriopathy|cerebral aneurysmal arteriopathy, AIDS associated|HIV-1-associated CNS vasculitis|HIV-1-associated CNS Vasculitides|central nervous system AIDS arteritis|CNS vasculitis, HIV associated|cerebral aneurysmal arteriopathy, AIDS-associated	http://purl.obolibrary.org/obo/MONDO_0005695	UMLS:C0752330|UMLS:C0752331|UMLS:C0752329|http://identifiers.org/mesh/D020943	
MONDO:0003032	biolink:Disease	superior vena cava angiosarcoma	A malignant vascular neoplasm arising from the superior vena cava.	DOID:4522|NCIT:C5378|UMLS:C1336530	mondo.json	angiosarcoma (disease) of anterior vena cava|angiosarcoma of Superior vena cava|anterior vena cava angiosarcoma (disease)|angiosarcoma of the Superior vena cava	http://purl.obolibrary.org/obo/MONDO_0003032	DOID:4522|NCIT:C5378|UMLS:C1336530	
MONDO:0003033	biolink:Disease	prostate angiosarcoma	A malignant vascular neoplasm arising from the prostate.	DOID:4524|NCIT:C5528|UMLS:C1335504	mondo.json	angiosarcoma of prostate|hemangiosarcoma of prostate|prostate angiosarcoma|hemangiosarcoma of the prostate|angiosarcoma of the prostate|prostatic hemangiosarcoma|prostatic angiosarcoma|prostate hemangiosarcoma|angiosarcoma (disease) of prostate gland|prostate gland angiosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0003033	DOID:4524|NCIT:C5528|UMLS:C1335504	
MONDO:0005694	biolink:Disease	cecal neoplasm	A benign or malignant neoplasm that affects the cecum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Cecal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.	NCIT:C4433|SCTID:126839008|UMLS:C0007528|EFO:0007197|MESH:D002430|DOID:1517	mondo.json	neoplasm of the cecum|neoplasm of cecum|cecum tumor|cecum neoplasm|neoplasm of caecum|tumor of caecum|cecal benign neoplasm|caecum neoplasm (disease)|tumor of the cecum|tumor of cecum|caecum tumor|caecum neoplasm	http://purl.obolibrary.org/obo/MONDO_0005694	http://identifiers.org/snomedct/126839008|UMLS:C0007528|DOID:1517|NCIT:C4433|http://identifiers.org/mesh/D002430	
MONDO:0003034	biolink:Disease	mediastinum angiosarcoma	A malignant vascular neoplasm arising from the mediastinum.	DOID:4525|UMLS:C1334649|NCIT:C6613	mondo.json	angiosarcoma (disease) of mediastinum|mediastinal hemangiosarcoma|hemangiosarcoma of mediastinum|angiosarcoma of the mediastinum|hemangiosarcoma of the mediastinum|angiosarcoma of mediastinum|mediastinum angiosarcoma (disease)|mediastinal angiosarcoma	http://purl.obolibrary.org/obo/MONDO_0003034	UMLS:C1334649|DOID:4525|NCIT:C6613	
MONDO:0005697	biolink:Disease	cerebral toxoplasmosis	Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)	SCTID:192701001|MESH:D016781|DOID:10551|EFO:0007200|ICD9:130.0	mondo.json	encephalitis due to acquired toxoplasmosis|Toxoplasma encephalitis|meningoencephalitis due to toxoplasmosis	http://purl.obolibrary.org/obo/MONDO_0005697	http://identifiers.org/snomedct/192701001|http://identifiers.org/mesh/D016781	
MONDO:0005696	biolink:Disease	central nervous system tuberculosis	A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with seizures, focal neurologic deficits, and intracranial hypertension. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as opportunistic infections, but also occur in immunocompetent individuals.	ICD9:013.2|ICD9:013.35|SCTID:186217006|ICD9:013.20|EFO:0007199|DOID:1638|UMLS:C0085388|UMLS:C2607948	mondo.json	tuberculous abscess of brain|tuberculoma of brain|tuberculosis of meninges and central nervous system|central nervous system tuberculosis|intracranial tuberculoma	http://purl.obolibrary.org/obo/MONDO_0005696	UMLS:C0085388|UMLS:C2607948|http://identifiers.org/snomedct/186217006|DOID:1638	
MONDO:0003035	biolink:Disease	ovarian angiosarcoma	A malignant vascular neoplasm arising from the ovary.	DOID:4527|UMLS:C1335152|NCIT:C5232	mondo.json	hemangiosarcoma of ovary|angiosarcoma of the ovary|hemangiosarcoma of the ovary|angiosarcoma of ovary|angiosarcoma (disease) of ovary|ovarian hemangiosarcoma|ovary angiosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0003035	DOID:4527|NCIT:C5232|UMLS:C1335152	
MONDO:0005691	biolink:Disease	cardiovirus infectious disease	Infections caused by viruses of the genus cardiovirus, family picornaviridae.	UMLS:C0206617|MESH:D018188|EFO:0007194	mondo.json	infections, Cardiovirus|infection, Cardiovirus|Cardiovirus infection	http://purl.obolibrary.org/obo/MONDO_0005691	UMLS:C0206617|http://identifiers.org/mesh/D018188	
MONDO:0005690	biolink:Disease	Caplan syndrome	A combination of rheumatoid arthritis (RA) and pneumoconiosis that manifests as intrapulmonary nodules, which appear homogenous and well-defined on chest X-ray.	EFO:0007192|MESH:D002205|UMLS:C0006915|SCTID:398640008|DOID:10326	mondo.json	Caplan's disease|Caplan syndrome|Caplan's syndrome|Caplans syndrome|rheumatoid pneumoconiosis	http://purl.obolibrary.org/obo/MONDO_0005690	http://identifiers.org/snomedct/398640008|UMLS:C0006915|DOID:10326|http://identifiers.org/mesh/D002205	
MONDO:0005693	biolink:Disease	cauda equina syndrome	Cauda equina syndrome refers to a group of symptoms that occur when some of the nerves in the cauda equina (the bundle of nerves that spread out from the bottom of the spinal cord) become compressed and/or damaged. Signs and symptoms of this condition include pain, numbness, or tingling in the lower back and/or legs; ' foot drop '; problems with bowel and/or bladder control; and sexual dysfunction. Cauda equina syndrome may be caused by a herniated disk, tumor, infection, fracture, or spinal stenosis. Treatment usually targets the underlying cause of the condition and often includes surgery to remove the material that is pressing on the nerves. Physical therapy, occupational therapy, and/or other services may be required if symptoms persist following surgery.	ICD9:344.6|SCTID:192970008|MESH:D011128|ICD10CM:G83.4|UMLS:C0392548|NCIT:C35436|DOID:11577|GARD:0010987|EFO:0007196|MESH:D000077684	mondo.json	syndromic disease of cauda equina|cauda equina syndromic disease	http://purl.obolibrary.org/obo/MONDO_0005693	NCIT:C35436|http://identifiers.org/snomedct/192970008|DOID:11577|http://identifiers.org/mesh/D000077684|http://purl.bioontology.org/ontology/ICD10CM/G83.4|UMLS:C0392548	gard_rare
MONDO:0003030	biolink:Disease	endometrioid stromal sarcoma of the cervix	A rare sarcoma that arises from the cervix. This category includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma.	UMLS:C3642326|DOID:4520|NCIT:C40220	mondo.json	endometrioid stromal sarcoma of uterine cervix|endometrioid stromal sarcoma of the cervix|cervical endometrial stromal sarcoma|uterine cervix endometrioid stromal sarcoma|endometrial stromal sarcoma of the cervix	http://purl.obolibrary.org/obo/MONDO_0003030	DOID:4520|UMLS:C3642326|NCIT:C40220	
MONDO:0003031	biolink:Disease	endometrioid stromal and related neoplasms of the cervix	A category of rare neoplasms that arise from the cervix. It includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma.	NCIT:C40218|DOID:4521|UMLS:C4289586	mondo.json	cervix endometrial stromal tumor|endometrioid stromal and related neoplasms of the cervix|endometrioid stromal and related tumors of the cervix	http://purl.obolibrary.org/obo/MONDO_0003031	DOID:4521|UMLS:C4289586|NCIT:C40218	
MONDO:0005692	biolink:Disease	cat-scratch disease	Cat scratch disease is an infectious illness caused by the bacteria bartonella (Bartonella henselae). It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious diseaseis characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery.	GARD:0000027|UMLS:C0007361|ICD10CM:A28.1|Orphanet:50839|NCIT:C84620|SCTID:79974007|UMLS:CN205187|MESH:D002372|DOID:11258|MedDRA:10007729|EFO:0007195|ICD9:078.3	mondo.json	debre's syndrome|Cat scratch disease|benign lymphoreticulosis|Foshay-Mollaret Cat scratch fever|bartonellosis due to Bartonella henselae infection|Cat-scratch fever|debre-Mollaret syndrome|cat scratch fever	http://purl.obolibrary.org/obo/MONDO_0005692	UMLS:C0007361|UMLS:CN205187|DOID:11258|http://purl.bioontology.org/ontology/ICD10CM/A28.1|NCIT:C84620|http://identifiers.org/mesh/D002372|http://identifiers.org/snomedct/79974007|Orphanet:50839	gard_rare|ordo_disease
MONDO:0015007	biolink:Disease	spastic paraplegia, intellectual disability, nystagmus, and obesity;		Orphanet:521390|UMLS:C4284592|OMIM:617296	mondo.json	SINO|spastic paraplegia, intellectual disability, nystagmus, and obesity	http://purl.obolibrary.org/obo/MONDO_0015007	Orphanet:521390|https://omim.org/entry/617296|UMLS:C4284592	ordo_malformation_syndrome
MONDO:0015006	biolink:Disease	epidermolysis bullosa simplex 6, generalized, with scarring and hair loss		UMLS:C4310631|OMIM:617294|Orphanet:508529	mondo.json	generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss|epidermolysis bullosa simplex, generalized, with scarring and hair loss; EBSSH|epidermolysis bullosa simplex, generalized, with scarring and hair loss|EBSSH|epidermolysis bullosa simplex 6, generalized, with scarring and hair loss	http://purl.obolibrary.org/obo/MONDO_0015006	UMLS:C4310631|https://omim.org/entry/617294|Orphanet:508529	ordo_disease
MONDO:0015005	biolink:Disease	epilepsy, early-onset, vitamin B6-dependent		UMLS:C4310632|OMIM:617290	mondo.json	epilepsy, early-onset, vitamin B6-dependent; EPVB6D|EPVB6D|epilepsy, early-onset, vitamin B6-dependent	http://purl.obolibrary.org/obo/MONDO_0015005	UMLS:C4310632|https://omim.org/entry/617290	
MONDO:0015004	biolink:Disease	dystonia 28, childhood-onset	Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene.	Orphanet:589618|OMIM:617284|UMLS:C4310633	mondo.json	dystonia 28, childhood-onset; DYT28|KMT2B dystonic disorder|dystonic disorder caused by mutation in KMT2B|DYT28|dystonia 28, childhood-onset	http://purl.obolibrary.org/obo/MONDO_0015004	Orphanet:589618|UMLS:C4310633|https://omim.org/entry/617284	ordo_disease
MONDO:0017666	biolink:Disease	diffuse palmoplantar keratoderma	Palmoplantar keratoderma that diffusely involves most of the palm and sole and is caused by a genetic abnormality.	UMLS:C0022584|SCTID:400123002|Orphanet:307141|HP:0007435|ICD9:757.39	mondo.json	diffuse palmoplantar hyperkeratosis|diffuse keratosis palmoplantaris|diffuse PPK	http://purl.obolibrary.org/obo/MONDO_0017666	UMLS:C0022584|Orphanet:307141|http://identifiers.org/snomedct/400123002	disease_grouping|ordo_group_of_disorders
MONDO:0017667	biolink:Disease	isolated diffuse palmoplantar keratoderma	A diffuse palmoplantar keratoderma that is not part of a larger syndrome.	Orphanet:307148	mondo.json	nonsyndromic diffuse palmoplantar keratoderma|isolated diffuse palmoplantar hyperkeratosis|isolated diffuse PPK|isolated diffuse keratosis palmoplantaris	http://purl.obolibrary.org/obo/MONDO_0017667	Orphanet:307148	disease_grouping|ordo_group_of_disorders
CHEBI:35820	biolink:ChemicalSubstance	antiprotozoal drug	Any antimicrobial drug which is used to treat or prevent protozoal infections.		mondo.json	antiprotozoal agent|antiprotozoal drugs|antiprotozoal agents	http://purl.obolibrary.org/obo/CHEBI_35820		
MONDO:0015009	biolink:Disease	lymphatic malformation 7		OMIM:617300	mondo.json	hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to; HFASD|hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to|HFASD	http://purl.obolibrary.org/obo/MONDO_0015009	https://omim.org/entry/617300	predisposition
MONDO:0017668	biolink:Disease	intellectual disability-short stature-hypertelorism syndrome	Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability affecting males characterized by short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome.	GARD:0003514|Orphanet:3074|UMLS:CN203552	mondo.json	intellectual disability short stature hypertelorism|Stoll-GC)raudel-Chauvin syndrome|mental retardation short stature hypertelorism|Stoll-Géraudel-Chauvin syndrome|intellectual deficit - short stature - hypertelorism	http://purl.obolibrary.org/obo/MONDO_0017668	Orphanet:3074|UMLS:CN203552	gard_rare|ordo_malformation_syndrome
MONDO:0017669	biolink:Disease	obsolete disease with diffuse palmoplantar keratoderma as a major feature		UMLS:CN203554|Orphanet:307711	mondo.json	disease with diffuse palmoplantar hyperkeratosis as a major feature	http://purl.obolibrary.org/obo/MONDO_0017669	UMLS:CN203554|Orphanet:307711	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0015008	biolink:Disease	amelogenesis imperfecta, type 1J		OMIM:617297	mondo.json	amelogenesis imperfecta, type 1J|AI1J|amelogenesis imperfecta, type Ij	http://purl.obolibrary.org/obo/MONDO_0015008	https://omim.org/entry/617297	
MONDO:0017662	biolink:Disease	obsolete miscellaneous movement disorder due to genetic neurodegenerative disease		Orphanet:307058|UMLS:CN203549	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017662	Orphanet:307058|UMLS:CN203549	ordo_group_of_disorders
MONDO:0017663	biolink:Disease	obsolete inherited tremor disorder		Orphanet:307064|Orphanet:307061|UMLS:CN227174|UMLS:CN227173	mondo.json	rare genetic myoclonus	http://purl.obolibrary.org/obo/MONDO_0017663	UMLS:CN227174|UMLS:CN227173|Orphanet:307061|Orphanet:307064	ordo_group_of_disorders|disease_grouping
HGNC:9076	biolink:NamedThing	PLIN1			mondo.json		http://identifiers.org/hgnc/9076		
MONDO:0017664	biolink:Disease	obsolete rare genetic myoclonus			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017664		
MONDO:0017665	biolink:Disease	obsolete rare genetic disease with myoclonus as a major feature		Orphanet:307067|UMLS:CN203550	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017665	UMLS:CN203550|Orphanet:307067	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0015003	biolink:Disease	dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities		UMLS:C4310634|OMIM:617282|Orphanet:508093	mondo.json	DYTOABG|dystonia 29, childhood-onset|dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; DYTOABG|dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	http://purl.obolibrary.org/obo/MONDO_0015003	UMLS:C4310634|https://omim.org/entry/617282|Orphanet:508093	ordo_malformation_syndrome
MONDO:0015002	biolink:Disease	developmental and epileptic encephalopathy, 49	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene.	UMLS:C4310635|OMIM:617281|DOID:0080441	mondo.json	early infantile epileptic encephalopathy caused by mutation in DENND5A|epileptic encephalopathy, early infantile, 49; EIEE49|developmental and epileptic encephalopathy 49|epileptic encephalopathy, early infantile, 49|DENND5A early infantile epileptic encephalopathy|DEE49|EIEE49|epileptic encephalopathy, early infantile, type 49	http://purl.obolibrary.org/obo/MONDO_0015002	UMLS:C4310635|DOID:0080441|https://omim.org/entry/617281	
MONDO:0015001	biolink:Disease	atrial fibrillation, familial, 18	Any familial atrial fibrillation in which the cause of the disease is a mutation in the MYL4 gene.	UMLS:C4310636|OMIM:617280	mondo.json	ATFB18|atrial fibrillation, familial, 18; ATFB18|atrial fibrillation, familial, 18|familial atrial fibrillation caused by mutation in MYL4|MYL4 familial atrial fibrillation|atrial fibrillation, familial, type 18	http://purl.obolibrary.org/obo/MONDO_0015001	UMLS:C4310636|https://omim.org/entry/617280	
CHEBI:23849	biolink:ChemicalSubstance	diterpenoid	Any terpenoid derived from a diterpene. The term includes compounds in which the C20 skeleton of the parent diterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups).		mondo.json	diterpenoides|diterpenoids|C20 isoprenoids	http://purl.obolibrary.org/obo/CHEBI_23849		
MONDO:0017660	biolink:Disease	obsolete rare genetic parkinsonian disorder		Orphanet:307052|UMLS:CN227172	mondo.json	rare genetic hypokinetic movement disorder	http://purl.obolibrary.org/obo/MONDO_0017660	Orphanet:307052|UMLS:CN227172	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0017661	biolink:Disease	obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease		Orphanet:307055|UMLS:CN203548	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017661	Orphanet:307055|UMLS:CN203548	disease_grouping|ordo_group_of_disorders
MONDO:0015000	biolink:Disease	developmental and epileptic encephalopathy, 48	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene.	DOID:0080448|UMLS:C4310637|OMIM:617276	mondo.json	epileptic encephalopathy, early infantile, 48; EIEE48|epileptic encephalopathy, early infantile, type 48|DEE48|EIEE48|early infantile epileptic encephalopathy caused by mutation in AP3B2|epileptic encephalopathy, early infantile, 48|developmental and epileptic encephalopathy 48|AP3B2 early infantile epileptic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0015000	UMLS:C4310637|DOID:0080448|https://omim.org/entry/617276	
MONDO:0003007	biolink:Disease	childhood kidney cell carcinoma	A renal cell carcinoma that occurs during childhood.	UMLS:C1333001|NCIT:C6568|DOID:4454	mondo.json	pediatric kidney cell carcinoma|childhood renal cell carcinoma|childhood renal cell carcinoma (disease)|childhood kidney cell carcinoma|pediatric renal cell carcinoma (disease)|renal cell carcinoma (disease) of childhood|renal cell cancer|pediatric renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003007	NCIT:C6568|UMLS:C1333001|DOID:4454	
MONDO:0054637	biolink:Disease	Noonan syndrome-like disorder with loose anagen hair 1		OMIM:607721	mondo.json	Noonan syndrome-like disorder with loose anagen hair 1|NSLH1|Noonan syndrome-like with loose anagen hair 1|NSLH|Tosti syndrome	http://purl.obolibrary.org/obo/MONDO_0054637	https://omim.org/entry/607721	
HGNC:9081	biolink:NamedThing	PLOD1			mondo.json		http://identifiers.org/hgnc/9081		
MONDO:0003008	biolink:Disease	hereditary renal cell carcinoma	An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome.	MESH:C536851|SCTID:717736007|NCIT:C39789|GARD:0009571|DOID:4455	mondo.json	hereditary renal cell carcinoma|hereditary renal carcinoma|hereditary renal cell carcinoma (disease)|hereditary renal cell cancer|familial renal carcinoma	http://purl.obolibrary.org/obo/MONDO_0003008	http://identifiers.org/snomedct/717736007|NCIT:C39789|DOID:4455|http://identifiers.org/mesh/C536851	gard_rare
MONDO:0054636	biolink:Disease	Skraban-Deardorff syndrome		Orphanet:513456|UMLS:C4539927|OMIM:617616	mondo.json	Skraban-Deardorff syndrome|SKDEAS|intellectual disability with seizures, abnormal Gait, and distinctive Facial features	http://purl.obolibrary.org/obo/MONDO_0054636	Orphanet:513456|UMLS:C4539927|https://omim.org/entry/617616	ordo_disease
MONDO:0005669	biolink:Disease	black piedra	A superficial mycosis that is caused by Piedraia hortae and is manifested by a small firm black nodule involving the hair shaft.	SCTID:33666009|DOID:12711|ICD9:111.3|EFO:0007171|ICD10CM:B36.3|UMLS:C0153249	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005669	DOID:12711|UMLS:C0153249|http://identifiers.org/snomedct/33666009|http://purl.bioontology.org/ontology/ICD10CM/B36.3	
MONDO:0030669	biolink:Disease	gastrointestinal defects and immunodeficiency syndrome 2	A severe autosomal recessive developmental disorder characterized by multiple intestinal atresia apparent soon after birth. Affected infants have a distended abdomen and do not pass meconium. There is some evidence of inflammatory bowel disease. Death occurs in the first weeks of life. Some patients may also have immunodeficiency.	OMIM:619708	mondo.json	gastrointestinal defects and immunodeficiency syndrome 2|multiple intestinal atresia with or without leukopenia|GIDID2	http://purl.obolibrary.org/obo/MONDO_0030669	https://omim.org/entry/619708	
OBO:mondo#predisposes_towards	biolink:NamedThing	predisposes towards			mondo.json		http://purl.obolibrary.org/obo/mondo#predisposes_towards		
HGNC:9082	biolink:NamedThing	PLOD2			mondo.json		http://identifiers.org/hgnc/9082		
MONDO:0003009	biolink:Disease	hyperaldosteronism	Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia.	MESH:D006929|DOID:446|SCTID:88213004|ICD9:255.1|UMLS:C0020428|ICD10CM:E26|ICD9:255.10	mondo.json	primary hyperaldosteronism	http://purl.obolibrary.org/obo/MONDO_0003009	http://identifiers.org/mesh/D006929|http://identifiers.org/snomedct/88213004|UMLS:C0020428|DOID:446|http://purl.bioontology.org/ontology/ICD10CM/E26	
HGNC:9080	biolink:NamedThing	PLN			mondo.json		http://identifiers.org/hgnc/9080		
MONDO:0003003	biolink:Disease	cervical alveolar soft part sarcoma	An alveolar soft part sarcoma arising from the cervix.	UMLS:C1516408|NCIT:C40225|DOID:4442	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003003	UMLS:C1516408|NCIT:C40225|DOID:4442	
MONDO:0005666	biolink:Disease	obsolete berylliosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005666		
MONDO:0005665	biolink:Disease	Bell's palsy	Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur.	EFO:0007167|NCIT:C26769|GARD:0005906|UMLS:C0376175|MESH:D020330|Orphanet:2810|DOID:12506|SCTID:193093009|ICD10CM:G51.0|ICD9:351.0	mondo.json	paralysis Of Facial nerve|Bell's (facial) palsy|facial nerve palsy|palsy of facial nerve|nerve paralysis, Facial|Bell palsy|facial palsy|facial nerve paralysis	http://purl.obolibrary.org/obo/MONDO_0005665	UMLS:C0376175|NCIT:C26769|http://identifiers.org/mesh/D020330|http://purl.bioontology.org/ontology/ICD10CM/G51.0|Orphanet:2810|http://identifiers.org/snomedct/193093009|DOID:12506	
MONDO:0003004	biolink:Disease	macular degeneration	Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.	NCIT:C123330|SCTID:422338006|MESH:D008268|DOID:4448|UMLS:C0024437	mondo.json	macula lutea retinal degeneration|retinal degeneration of macula lutea|macula retinal degeneration|macular degeneration of retina	http://purl.obolibrary.org/obo/MONDO_0003004	NCIT:C123330|http://identifiers.org/snomedct/422338006|http://identifiers.org/mesh/D008268|DOID:4448|UMLS:C0024437	
HGNC:9086	biolink:NamedThing	PLP1			mondo.json		http://identifiers.org/hgnc/9086		
MONDO:0005668	biolink:Disease	bird fancier's lung	Hypersensitivity granulomatous pneumonitis caused by the inhalation of avian antigens that are present in the dust of the droppings and feathers of many species of birds. In the acute phase it manifests as fever, chills, dyspnea, cough, and chest tightness. Chronic exposure may lead to interstitial lung fibrosis.	UMLS:C0005592|Orphanet:99908|ICD9:495.2|ICD10CM:J67.2|EFO:0007170|NCIT:C34425|MedDRA:10004941|SCTID:69339004|DOID:13891|MESH:D001716	mondo.json	bird fancier lung|bird-breeder's lung|pigeon breeder's lung|bird breeder's lung|pigeon-breeder's lung|poultry worker's lung|pigeon-breeder lung disease|bird-fanciers' lung|Avian hypersensitivity pneumonitis|bird fancier's lung|bird-fancier's lung	http://purl.obolibrary.org/obo/MONDO_0005668	UMLS:C0005592|http://purl.bioontology.org/ontology/ICD10CM/J67.2|http://identifiers.org/mesh/D001716|NCIT:C34425|Orphanet:99908|DOID:13891|http://identifiers.org/snomedct/69339004	ordo_disease
MONDO:0003005	biolink:Disease	macular retinal edema	Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision.	UMLS:C0271051|SCTID:37231002|DOID:4449|NCIT:C35468	mondo.json	edema, macular|macular edema|retinal edema of macula lutea|macula lutea retinal edema	http://purl.obolibrary.org/obo/MONDO_0003005	UMLS:C0271051|NCIT:C35468|http://identifiers.org/snomedct/37231002|DOID:4449	
HGNC:9083	biolink:NamedThing	PLOD3			mondo.json		http://identifiers.org/hgnc/9083		
MONDO:0005667	biolink:Disease	biliary dyskinesia	A motility disorder characterized by biliary colic, absence of gallstones, and an abnormal gallbladder ejection fraction. It is caused by gallbladder dyskinesia and/or sphincter of oddi dysfunction.	ICD9:575.8|DOID:4140|HP:0012396|UMLS:C0005416|MESH:D001657|SCTID:197432008|EFO:0007169	mondo.json	sphincter of Oddi dysfunction	http://purl.obolibrary.org/obo/MONDO_0005667	UMLS:C0005416|http://identifiers.org/mesh/D001657|DOID:4140|http://identifiers.org/snomedct/197432008	
MONDO:0003006	biolink:Disease	obsolete Bartter disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003006		
MONDO:0005662	biolink:Disease	balantidiasis	Infection by parasites of the genus balantidium. The presence of Balantidium in the large intestine leads to diarrhea; dysentery; and occasionally ulcer.	ICD10CM:A07.0|EFO:0007163|MedDRA:10004080|DOID:12386|NCIT:C84583|Orphanet:1223|SCTID:57725006|GARD:0000809|ICD9:007.0|MESH:D001447|UMLS:C0004692	mondo.json	Human balantidiasis|Balantidiases|B coli infection|ciliary dysentery|balantidiosis|large-intestinal infection with Balantidium coli|Balantidium coli infection	http://purl.obolibrary.org/obo/MONDO_0005662	NCIT:C84583|UMLS:C0004692|http://identifiers.org/snomedct/57725006|http://purl.bioontology.org/ontology/ICD10CM/A07.0|http://identifiers.org/mesh/D001447|Orphanet:1223|DOID:12386	ordo_disease|gard_rare
MONDO:0005661	biolink:Disease	babesiosis	Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can be associated with hemolytic anemia. Babesia parasites are primarily spread by infected ticks. Treatment is generally only required in people who develop symptoms of the condition. When necessary, affected people are often prescribed a combination of antimicrobial medications along with supportive care to manage symptoms.	DOID:9643|EFO:0007162|MESH:D001404|NCIT:C84581|MedDRA:10003965|Orphanet:108|GARD:0005878|ICD10CM:B60.0|SCTID:21061004|ICD9:088.82|UMLS:C0004576	mondo.json	babesiasis|Babesia disease or disorder|Human babesiosis|infection by Babesia|Babesia infectious disease|Babesia caused disease or disorder|piroplasmosis|Babesia parasite infection	http://purl.obolibrary.org/obo/MONDO_0005661	UMLS:C0004576|http://identifiers.org/mesh/D001404|Orphanet:108|http://purl.bioontology.org/ontology/ICD10CM/B60.0|http://identifiers.org/snomedct/21061004|DOID:9643|NCIT:C84581	ordo_disease|gard_rare
MONDO:0003000	biolink:Disease	central nervous system germ cell tumor	A unique group of rare tumors of the central nervous system that affect mainly children and adolescents. Their morphologic and biologic profile corresponds to that of homologous germ cell tumors that arise in the gonads and in other extragonadal sites. Representative examples include: germinoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma.	NCIT:C5461|DOID:4439|UMLS:C1332880	mondo.json	germ cell tumor of central nervous system|germ cell tumor of the central nervous system|central nervous system rare germ cell tumor|germ cell tumor of CNS|central nervous system germ cell tumor|central nervous system germ cell neoplasm|CNS germ cell neoplasm|germ cell neoplasm of the CNS|germ cell neoplasm of CNS|CNS germ cell tumor|germ cell neoplasm of central nervous system|germ cell neoplasm of the central nervous system|germ cell tumor of the CNS	http://purl.obolibrary.org/obo/MONDO_0003000	DOID:4439|UMLS:C1332880|NCIT:C5461	
MONDO:0005664	biolink:Disease	bartonellosis	An infectious disease produced by bacteria of the genus Bartonella.	UMLS:C0004771|EFO:0007166|MESH:D001474|NCIT:C84586|DOID:11102|ICD10CM:A44|ICD9:088.0|SCTID:266123003	mondo.json	Bartonella caused disease or disorder|Bartonella disease or disorder|Rochalimaea infection|Rochalimaea infection (disorder)|Bartonella infection|bartonelliasis|Bartonella infectious disease|Rochalimaea infections	http://purl.obolibrary.org/obo/MONDO_0005664	http://identifiers.org/snomedct/266123003|NCIT:C84586|UMLS:C0004771|http://identifiers.org/mesh/D001474|http://purl.bioontology.org/ontology/ICD10CM/A44|DOID:11102	
MONDO:0003001	biolink:Disease	seminoma	A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes.	NCIT:C9309|ICD9:186.9|ONCOTREE:SEM|SCTID:443675005|MESH:D018239|ICDO:9061/3|OMIM:273300|DOID:4440	mondo.json	seminoma|seminoma, malignant|seminoma, pure	http://purl.obolibrary.org/obo/MONDO_0003001	NCIT:C9309|DOID:4440|http://identifiers.org/snomedct/443675005|http://identifiers.org/mesh/D018239	
MONDO:0005663	biolink:Disease	Barre-Lieou syndrome	A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo.	UMLS:C2355645|EFO:0007165|MESH:D055010|SCTID:17300000|DOID:6692|ICD9:723.2|UMLS:C0376378|NCIT:C34411|ICD10CM:M53.0	mondo.json	posterior cervical sympathetic syndrome|Cervicocranial syndrome	http://purl.obolibrary.org/obo/MONDO_0005663	UMLS:C0376378|http://purl.bioontology.org/ontology/ICD10CM/M53.0|http://identifiers.org/mesh/D055010|DOID:6692|NCIT:C34411|http://identifiers.org/snomedct/17300000|UMLS:C2355645	
MONDO:0003002	biolink:Disease	dysgerminoma	A malignant germ cell tumor characterized by the presence of a monotonous primitive germ cell population. The neoplastic cells form aggregates and have an abundant pale cytoplasm and uniform nuclei. The aggregates of the germ cells are separated by fibrous septa which contain inflammatory cells, mostly T-lymphocytes. It arises primarily in the ovaries, but can occur both primarily and secondarily at other sites, particularly the central nervous system. It responds to chemotherapy and radiotherapy. Its prognosis is related to the tumor stage.	MESH:D004407|NCIT:C2996|ICDO:9060/3|HP:0100621|UMLS:C0013377|DOID:4441	mondo.json	dysgerminoma, malignant|dysgerminoma (disease)|dysgerminoma	http://purl.obolibrary.org/obo/MONDO_0003002	http://identifiers.org/mesh/D004407|UMLS:C0013377|NCIT:C2996|DOID:4441	
MONDO:0005660	biolink:Disease	Avulavirus infectious disease	Infections with viruses of the genus avulavirus, family paramyxoviridae. This includes newcastle disease and other infections of domestic fowl.	EFO:0007161|UMLS:C1258034|MESH:D045463	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005660	http://identifiers.org/mesh/D045463|UMLS:C1258034	
MONDO:0017659	biolink:Disease	sporadic hyperekplexia		Orphanet:306776	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017659	Orphanet:306776	ordo_disease
MONDO:0017655	biolink:Disease	obsolete progressive epilepsy and/or ataxia with myoclonus as a major feature		Orphanet:306762	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017655	Orphanet:306762	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0017656	biolink:Disease	motor stereotypies		Orphanet:306765	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017656	Orphanet:306765	ordo_group_of_disorders|disease_grouping
MONDO:0017657	biolink:Disease	obsolete rare paroxysmal movement disorder		UMLS:CN227171|Orphanet:306768	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017657	UMLS:CN227171|Orphanet:306768	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0017658	biolink:Disease	hyperekplexia	A neurologic disorder classically characterised by pronounced startle responses to tactile or acoustic stimuli and hypertonia	Orphanet:306773|MESH:D000071017	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017658	Orphanet:306773|http://identifiers.org/mesh/D000071017	ordo_group_of_disorders|disease_grouping
MONDO:0017651	biolink:Disease	primary myoclonus		Orphanet:306750	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017651	Orphanet:306750	disease_grouping|ordo_group_of_disorders
MONDO:0030673	biolink:Disease	spastic paraplegia 86, autosomal recessive		OMIM:619735	mondo.json	spastic paraplegia 86, autosomal recessive|SPG86	http://purl.obolibrary.org/obo/MONDO_0030673	https://omim.org/entry/619735	
MONDO:0017652	biolink:Disease	obsolete rare disease with myoclonus as a major feature		UMLS:CN203543|Orphanet:306753	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017652	UMLS:CN203543|Orphanet:306753	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0017653	biolink:Disease	obsolete epilepsy and/or ataxia with myoclonus as major feature		Orphanet:306756	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017653	Orphanet:306756	ordo_group_of_disorders|disease_grouping
FOODON:00003318	biolink:NamedThing	echinoderm food product			mondo.json		http://purl.obolibrary.org/obo/FOODON_00003318		
MONDO:0017654	biolink:Disease	obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature		Orphanet:306759	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017654	Orphanet:306759	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0030674	biolink:Disease	Teebi hypertelorism syndrome 2		OMIM:619736	mondo.json	TBHS2|Teebi hypertelorism syndrome 2	http://purl.obolibrary.org/obo/MONDO_0030674	https://omim.org/entry/619736	
CHEBI:60809	biolink:ChemicalSubstance	adjuvant	Any pharmacological or immunological agent that modifies the effect of other agents such as drugs or vaccines while having few if any direct effects when given by itself.		mondo.json	adjuvants	http://purl.obolibrary.org/obo/CHEBI_60809		
MONDO:0017650	biolink:Disease	obsolete rare myoclonus		Orphanet:306747|UMLS:CN227170	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017650	UMLS:CN227170|Orphanet:306747	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
NCBITaxon:10880	biolink:OrganismalEntity	Reoviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_10880		
MONDO:0003018	biolink:Disease	obsolete myotonic disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003018		
MONDO:0003019	biolink:Disease	potassium deficiency disease	Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia.	MESH:D007008|UMLS:C1514284|NCIT:C34939|ICD9:276.8|HP:0002900|DOID:4500|ICD10CM:E87.6|SCTID:43339004	mondo.json	potassium deficiency disorder|hypopotassemia|hypokalemia	http://purl.obolibrary.org/obo/MONDO_0003019	UMLS:C1514284|http://purl.bioontology.org/ontology/ICD10CM/E87.6|http://identifiers.org/mesh/D007008|DOID:4500|NCIT:C34939|http://identifiers.org/snomedct/43339004	
HGNC:27337	biolink:NamedThing	ANO5			mondo.json		http://identifiers.org/hgnc/27337		
MONDO:0030677	biolink:Disease	Charcot-Marie-Tooth disease, demyelinating, IIA 1I		OMIM:619742	mondo.json	CMT1I|Charcot-Marie-Tooth disease, demyelinating, IIA 1I|Charcot-Marie-Tooth disease neuropathy, IIA 1I	http://purl.obolibrary.org/obo/MONDO_0030677	https://omim.org/entry/619742	
MONDO:0003014	biolink:Disease	rhinitis	An inflammation of the mucous membrane lining the nose, usually associated with nasal discharge.	NCIT:C34986|SCTID:70076002|UMLS:C0035455|MESH:D012220|EFO:0008521|ICD10CM:J30|DOID:4483	mondo.json	nasal cavity mucosa inflammation|inflammation of nasal cavity mucosa|runny nose	http://purl.obolibrary.org/obo/MONDO_0003014	http://identifiers.org/mesh/D012220|DOID:4483|NCIT:C34986|http://purl.bioontology.org/ontology/ICD10CM/J30|UMLS:C0035455|http://identifiers.org/snomedct/70076002	
MONDO:0005677	biolink:Disease	Rickettsia conorii infectious disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005677		
MONDO:0005676	biolink:Disease	borna disease	An encephalomyelitis of horses, sheep and cattle caused by borna disease virus.	DOID:5154|MESH:D001890|UMLS:C0006023|EFO:0007178	mondo.json	enzootic encephalomyelitis	http://purl.obolibrary.org/obo/MONDO_0005676	DOID:5154|http://identifiers.org/mesh/D001890|UMLS:C0006023	
MONDO:0030676	biolink:Disease	parkinsonism-dystonia 3, childhood-onset		OMIM:619738	mondo.json	parkinsonism-dystonia 3, childhood-onset|PKDYS3	http://purl.obolibrary.org/obo/MONDO_0030676	https://omim.org/entry/619738	
MONDO:0003015	biolink:Disease	obsolete malignant biphasic mesothelioma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003015		
MONDO:0030679	biolink:Disease	Noonan syndrome 14		OMIM:619745	mondo.json	NS14|Noonan syndrome 14	http://purl.obolibrary.org/obo/MONDO_0030679	https://omim.org/entry/619745	
MONDO:0005679	biolink:Disease	bovine virus diarrhea-mucosal disease	Acute disease of cattle caused by the bovine viral diarrhea viruses (diarrhea viruses, bovine viral). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality.	EFO:0007181|MESH:D001912|UMLS:C0006075	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005679	http://identifiers.org/mesh/D001912|UMLS:C0006075	
MONDO:0003016	biolink:Disease	obsolete sarcomatoid mesothelioma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003016		
MONDO:0003017	biolink:Disease	malignant peritoneal solitary fibrous tumor	A malignant form of peritoneal solitary fibrous tumor.	DOID:4490	mondo.json	peritoneal solitary fibrous tumor, malignant|pleural and peritoneal solitary fibrous tumor	http://purl.obolibrary.org/obo/MONDO_0003017	DOID:4490	
MONDO:0005678	biolink:Disease	bovine respiratory disease complex	A multifactorial disease of cattle resulting from complex interactions between environmental factors, host factors, and pathogens. The environmental factors act as stressors adversely affecting the immune system and other host defenses and enhancing transmission of infecting agents.	EFO:0007180|UMLS:C1449809|MESH:D048090	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005678	UMLS:C1449809|http://identifiers.org/mesh/D048090	
MONDO:0005673	biolink:Disease	blind loop syndrome	A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis.	EFO:0007175|UMLS:C0005750|SCTID:66379009|DOID:10606|MESH:D001765|NCIT:C34431|ICD9:579.2	mondo.json	stasis (blind loop) syndrome|bacterial overgrowth syndrome|stasis syndrome|blind loop syndrome	http://purl.obolibrary.org/obo/MONDO_0005673	http://identifiers.org/mesh/D001765|NCIT:C34431|http://identifiers.org/snomedct/66379009|UMLS:C0005750|DOID:10606	
MONDO:0003010	biolink:Disease	multilocular clear cell renal cell carcinoma	A rare type of renal cell carcinoma. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells.	NCIT:C4524|SCTID:254916002|Orphanet:319287|ICDO:8316/3|ICD9:189.0|UMLS:C0346249|DOID:4463	mondo.json	multilocular clear cell renal cell carcinoma|multilocular cystic clear cell renal cell neoplasm of low malignant potential|multilocular clear cell adenocarcinoma|multilocular clear cell renal cell adenocarcinoma|MCRCC|multilocular cystic renal neoplasm of low malignant potential|multilocular clear cell carcinoma|renal cystadenocarcinoma|multilocular cystic renal cell cancer|multilocular cystic renal cell adenocarcinoma|cystadenocarcinoma of kidney|multilocular cystic renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003010	UMLS:C0346249|DOID:4463|http://identifiers.org/snomedct/254916002|Orphanet:319287|NCIT:C4524	ordo_histopathological_subtype
MONDO:0003011	biolink:Disease	mucinous tubular and spindle renal cell carcinoma	A low grade carcinoma of the kidney characterized by the presence of tubules which are separated by mucinous stroma. Often the tubular structures have a spindle cell appearance. Patients are usually asymptomatic and occasionally they may present with hematuria or flank pain.	SCTID:764990003|ONCOTREE:MTSCC|Orphanet:319322|UMLS:C1513719|UMLS:CN203939|DOID:4472|NCIT:C39807|ICDO:0000/0	mondo.json	mucinous tubular and spindle cell renal carcinoma|mucinous tubular and spindle cell carcinoma of the kidney|carcinoma, renal, tubular, malignant|renal mucinous tubular spindle cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003011	Orphanet:319322|UMLS:CN203939|http://identifiers.org/snomedct/764990003|UMLS:C1513719|DOID:4472|NCIT:C39807	ordo_disease
MONDO:0005672	biolink:Disease	blastomycosis	Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body.The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant.	EFO:0007174|SCTID:191950004|CSP:1988-4119|DOID:12663|ICD9:116.0|ICD9:116|MESH:D001759|ICD10CM:B40|GARD:0005931|NCIT:C34429|UMLS:C0005717|UMLS:C0005716	mondo.json	Blastomyces dermatitidis infectious disease|Blastomyces dermatitidis caused disease or disorder|Gilchrist's disease|infection by Blastomyces dermatitidis|Blastomyces dermatitidis infection|North American blastomycosis|Blastomyces dermatitidis disease or disorder|Chicago disease|blastomycotic infection	http://purl.obolibrary.org/obo/MONDO_0005672	http://identifiers.org/snomedct/191950004|http://identifiers.org/mesh/D001759|NCIT:C34429|http://purl.bioontology.org/ontology/ICD10CM/B40|DOID:12663|UMLS:C0005716|UMLS:C0005717	gard_rare
MONDO:0005675	biolink:Disease	border disease	Congenital disorder of lambs caused by a virus closely related to or identical with certain strains of bovine viral diarrhea virus.	UMLS:C0006008|MESH:D001882|EFO:0007177	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005675	http://identifiers.org/mesh/D001882|UMLS:C0006008	
MONDO:0003012	biolink:Disease	sarcomatoid renal cell carcinoma	A high grade carcinoma of the kidney. It is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade.	UMLS:C1266043|ONCOTREE:SRCC|DOID:4473|NCIT:C27893|ICDO:8318/3	mondo.json	renal cell carcinoma with sarcomatoid features|SRCC|sarcomatoid renal cell carcinoma|sarcomatoid renal cell cancer|RCC w/ sarcomatoid features|renal cell carcinoma, spindle cell	http://purl.obolibrary.org/obo/MONDO_0003012	UMLS:C1266043|DOID:4473|NCIT:C27893	
MONDO:0005674	biolink:Disease	bone giant cell tumor	A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint.	UMLS:C0206638|Orphanet:363976|ONCOTREE:GCTB|HP:0011847|NCIT:C121932|SCTID:697970009|DOID:4305|GARD:0013046|MESH:D018212|EFO:0007176	mondo.json	giant cell tumor, benign|giant cell tumor of bone|giant cell myeloma|benign bone giant cell tumor|Osteoclastoma, benign|GCT of bone|giant cell tumor of the bone|osteoclastoma|giant cell tumor of bone NOS (morphologic abnormality)|giant cell neoplasm of bone|giant cell tumor of bone (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0005674	http://identifiers.org/snomedct/697970009|DOID:4305|Orphanet:363976|NCIT:C121932|UMLS:C0206638|http://identifiers.org/mesh/D018212	ordo_disease
MONDO:0003013	biolink:Disease	obsolete pseudohypoaldosteronism			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003013		
MONDO:0005671	biolink:Disease	Blastocystis infectious disease	Infections with organisms of the genus blastocystis. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in aids patients and other immunosuppressed patients (immunocompromised host). Symptoms include abdominal pain; diarrhea; constipation; vomiting; and fatigue.	EFO:0007173|MESH:D016776|SCTID:721809007	mondo.json	infection, Blastocystis|Blastocystis infection|infections, Blastocystis	http://purl.obolibrary.org/obo/MONDO_0005671	http://identifiers.org/snomedct/721809007|http://identifiers.org/mesh/D016776	
MONDO:0005670	biolink:Disease	blackwater fever	A complication of malaria resulting from hemolysis.	EFO:0007172|NCIT:C34426|DOID:14068|SCTID:56625005|UMLS:C0005681|ICD9:084.8|MESH:D001742	mondo.json	hemoglobinuric, malaria|Black water fever|blackwater fever|malarial hemoglobinuria	http://purl.obolibrary.org/obo/MONDO_0005670	DOID:14068|NCIT:C34426|http://identifiers.org/mesh/D001742|http://identifiers.org/snomedct/56625005|UMLS:C0005681	
MONDO:0017648	biolink:Disease	Sydenham chorea	A neurological disorder characterized by rapid, jerky, irregular, and involuntary movements (chorea), especially of the face and limbs. Additional symptoms may include muscle weakness, slurred speech, headaches, and seizures.	Orphanet:306731|MedDRA:10042732|GARD:0007716	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017648	Orphanet:306731	ordo_clinical_situation
UBERON:0002294	biolink:AnatomicalEntity	biliary system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002294		
MONDO:0017649	biolink:Disease	hemidystonia-hemiatrophy syndrome	Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD.	Orphanet:306741|UMLS:CN203542	mondo.json	HD-HA syndrome	http://purl.obolibrary.org/obo/MONDO_0017649	UMLS:CN203542|Orphanet:306741	ordo_disease
UBERON:0002293	biolink:AnatomicalEntity	costochondral joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002293		
UBERON:0002296	biolink:AnatomicalEntity	dorsal mesentery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002296		
MONDO:0017644	biolink:Disease	obsolete rare tremor disorder		UMLS:CN227168|Orphanet:306712	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017644	UMLS:CN227168|Orphanet:306712	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
UBERON:0002290	biolink:AnatomicalEntity	choroid plexus of fourth ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002290		
MONDO:0017645	biolink:Disease	obsolete rare choreic movement disorder		Orphanet:306715	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017645	Orphanet:306715	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0017646	biolink:Disease	obsolete neurodegenerative disease with chorea		UMLS:CN203538|Orphanet:306719	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017646	UMLS:CN203538|Orphanet:306719	ordo_group_of_disorders
MONDO:0017647	biolink:Disease	obsolete postinfectious autoimmune disease with chorea		UMLS:CN203539|Orphanet:306727	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017647	UMLS:CN203539|Orphanet:306727	ordo_group_of_disorders
UBERON:0002291	biolink:AnatomicalEntity	central canal of spinal cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002291		
MONDO:0017640	biolink:Disease	cyanide-induced parkinsonism	Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum.	SCTID:766872002|UMLS:CN203536|Orphanet:306692	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017640	UMLS:CN203536|Orphanet:306692|http://identifiers.org/snomedct/766872002	ordo_disease
MONDO:0030684	biolink:Disease	hypogonadotropic hypogonadism 27 without anosmia		OMIM:619755	mondo.json	hypogonadotropic hypogonadism 27 without anosmia|HH27	http://purl.obolibrary.org/obo/MONDO_0030684	https://omim.org/entry/619755	
MONDO:0017641	biolink:Disease	obsolete miscellaneous movement disorder due to neurodegenerative disease		Orphanet:306695|UMLS:CN203537	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017641	UMLS:CN203537|Orphanet:306695	ordo_group_of_disorders
MONDO:0017642	biolink:Disease	intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome		Orphanet:3067|UMLS:CN227166	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017642	Orphanet:3067|UMLS:CN227166	ordo_malformation_syndrome
CHEBI:23824	biolink:ChemicalSubstance	diol	A compound that contains two hydroxy groups, generally assumed to be, but not necessarily, alcoholic. Aliphatic diols are also called glycols.		mondo.json	diols	http://purl.obolibrary.org/obo/CHEBI_23824		
HGNC:30972	biolink:NamedThing	SECISBP2			mondo.json		http://identifiers.org/hgnc/30972		
MONDO:0017643	biolink:Disease	obsolete frontotemporal neurodegeneration with movement disorder		Orphanet:306708|UMLS:CN227167	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017643	UMLS:CN227167|Orphanet:306708	ordo_group_of_disorders
MONDO:0030680	biolink:Disease	cardiomyopathy, dilated, 2F		OMIM:619747	mondo.json	cardiomyopathy, dilated, 2F|CMD2F	http://purl.obolibrary.org/obo/MONDO_0030680	https://omim.org/entry/619747	
UBERON:0002298	biolink:AnatomicalEntity	brainstem			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002298		
MONDO:0030681	biolink:Disease	immunodeficiency 94 with autoinflammation and dysmorphic facies		OMIM:619750	mondo.json	immunodeficiency 94 with autoinflammation and dysmorphic facies|IMD94	http://purl.obolibrary.org/obo/MONDO_0030681	https://omim.org/entry/619750	
UBERON:0002299	biolink:AnatomicalEntity	alveolus of lung			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002299		
MONDO:0030604	biolink:Disease	cystic partially differentiated nephroblastoma	A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative.	ICDO:8959/3|DOID:7571|ICDO:8959/1|NCIT:C6897|UMLS:C1266139	mondo.json	malignant multilocular cystic nephroma|malignant cystic nephroma|cystic partially differentiated nephroblastoma	http://purl.obolibrary.org/obo/MONDO_0030604	DOID:7571|UMLS:C1266139|NCIT:C6897	
MONDO:0030603	biolink:Disease	Klebsiella infectious disease	Infections with bacteria of the genus KLEBSIELLA.	MESH:D007710|SCTID:721756002|EFO:1001353|GARD:0010085	mondo.json	Klebsiella caused disease or disorder|infection, Klebsiella|infections, Klebsiella|Klebsiella infection|Klebsiella disease or disorder	http://purl.obolibrary.org/obo/MONDO_0030603	http://identifiers.org/snomedct/721756002|http://identifiers.org/mesh/D007710	
MONDO:0030606	biolink:Disease	Bryant-Li-Bhoj neurodevelopmental syndrome 1		OMIM:619720	mondo.json	BRYLIB1	http://purl.obolibrary.org/obo/MONDO_0030606	https://omim.org/entry/619720	
MONDO:0015050	biolink:Disease	esophageal duplication cyst	Esophageal duplication cyst is a rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported.	Orphanet:100047|SCTID:721161005	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015050	http://identifiers.org/snomedct/721161005|Orphanet:100047	ordo_morphological_anomaly
MONDO:0003069	biolink:Disease	suppurative lymphadenitis	A form of lymphadenitis that is characterized by formation of pus; it is most often caused by staphylococcal or streptococcal bacteria.	ICD9:457.8|NCIT:C27135|SCTID:48573006|UMLS:C0392051|DOID:4639	mondo.json	suppurative lymphadenopathy	http://purl.obolibrary.org/obo/MONDO_0003069	DOID:4639|NCIT:C27135|http://identifiers.org/snomedct/48573006|UMLS:C0392051	
MONDO:0030602	biolink:Disease	Klebsiella pneumonia	An pneumonia caused by infection with Klebsiella.	ICD9:482.0|SCTID:64479007|UMLS:C0519030|DOID:13272|MESH:D007710|ICD10CM:J15.0	mondo.json	pneumonia due to Klebsiella pneumoniae|pneumonia due to Klebsiella pneumoniae (disorder)|Klebsiella caused pneumonia|pneumonia caused by Klebsiella pneumoniae	http://purl.obolibrary.org/obo/MONDO_0030602	http://identifiers.org/snomedct/64479007|UMLS:C0519030|DOID:13272|http://purl.bioontology.org/ontology/ICD10CM/J15.0	
MONDO:0003065	biolink:Disease	nasal cavity inverting papilloma	A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas.	NCIT:C8194|UMLS:C0280336|DOID:4633	mondo.json	inverting papilloma of nasal cavity|inverting papilloma of the nasal cavity|nasal cavity Schneiderian papilloma, inverted type|nasal cavity inverted papilloma	http://purl.obolibrary.org/obo/MONDO_0003065	DOID:4633|UMLS:C0280336|NCIT:C8194	
MONDO:0003066	biolink:Disease	submandibular adenitis	Inflammation of the submandibular lymph nodes.	NCIT:C27016|DOID:4636|UMLS:C0235591|SCTID:15170009	mondo.json	submandibular gland lymphadenitis (disease)|lymphadenitis (disease) of submandibular gland|submandibular lymphadenitis	http://purl.obolibrary.org/obo/MONDO_0003066	UMLS:C0235591|DOID:4636|http://identifiers.org/snomedct/15170009|NCIT:C27016	
MONDO:0003067	biolink:Disease	cervical lymphadenitis	Inflammation of the cervical lymph nodes.	UMLS:C0149642|SCTID:3502005|NCIT:C26937|DOID:4637	mondo.json	cervical adenitis|lymphadenitis (disease) of neck|neck lymphadenitis (disease)	http://purl.obolibrary.org/obo/MONDO_0003067	DOID:4637|NCIT:C26937|UMLS:C0149642|http://identifiers.org/snomedct/3502005	
MONDO:0003068	biolink:Disease	postauricular lymphadenitis	Inflammation of the postauricular lymph nodes.	NCIT:C27332|DOID:4638|UMLS:C0919638	mondo.json	lymphadenitis (disease) of mastoid lymph node|mastoid lymph node lymphadenitis (disease)	http://purl.obolibrary.org/obo/MONDO_0003068	DOID:4638|NCIT:C27332|UMLS:C0919638	
MONDO:0030608	biolink:Disease	interstitial lung disease 1		OMIM:619611	mondo.json	ILD1|interstitial lung disease 1	http://purl.obolibrary.org/obo/MONDO_0030608	https://omim.org/entry/619611	
MONDO:0003061	biolink:Disease	benign muscle neoplasm	A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue.	ICDO:8895/0|MESH:D009214|DOID:2691|DOID:461|NCIT:C4882	mondo.json	muscle tissue neoplasm|benign tumor of muscle|myomatous tumor|benign tumor of the muscle|benign neoplasm of muscle|benign muscle neoplasm|benign neoplasm of the muscle|benign muscle tumor|muscle benign neoplasm|myoma|muscle neoplasm	http://purl.obolibrary.org/obo/MONDO_0003061	DOID:2691|NCIT:C4882|http://identifiers.org/mesh/D009214|DOID:461	
MONDO:0003062	biolink:Disease	intestinal benign neoplasm	A benign neoplasm that involves the intestine.	NCIT:C4609|UMLS:C0347269|SCTID:92151003	mondo.json	benign intestinal neoplasms|benign intestine tumor|intestinal neoplasms, benign|benign neoplasms of large and/or small intestine|benign intestine neoplasm|benign neoplasms of the large and/or small intestine|benign tumor of intestines|benign tumor of the intestines|intestinal tumors, benign|benign intestinal neoplasm|benign neoplasm of intestines|benign neoplasm of the intestines|benign intestinal tumors|intestine benign neoplasm|benign intestinal tumor	http://purl.obolibrary.org/obo/MONDO_0003062	http://identifiers.org/snomedct/92151003|UMLS:C0347269|NCIT:C4609	
MONDO:0030607	biolink:Disease	Bryant-Li-Bhoj neurodevelopmental syndrome 2		OMIM:619721	mondo.json	BRYLIB2	http://purl.obolibrary.org/obo/MONDO_0030607	https://omim.org/entry/619721	
HGNC:27302	biolink:NamedThing	IBA57			mondo.json		http://identifiers.org/hgnc/27302		
MONDO:0003063	biolink:Disease	obsolete hydranencephaly			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003063		
MONDO:0003064	biolink:Disease	inverted transitional cell papilloma	A benign papillary neoplasm composed of transitional cells and characterized by an endophytic growth pattern.	DOID:4630|NCIT:C4118|UMLS:C0334269|ICDO:8121/1	mondo.json	inverted transitional papilloma|inverted transitional cell papilloma|transitional papilloma, inverted	http://purl.obolibrary.org/obo/MONDO_0003064	DOID:4630|NCIT:C4118|UMLS:C0334269	
MONDO:0003060	biolink:Disease	biliary tract cancer	A malignant neoplasm involving the biliary tree	UMLS:C0750952|SCTID:126853008|DOID:4607|ICD9:156.9|GARD:0005924	mondo.json	cancer of biliary tree|biliary tree cancer|malignant biliary tree neoplasm|malignant neoplasm of biliary tree|malignant tumour of biliary tract	http://purl.obolibrary.org/obo/MONDO_0003060	DOID:4607	gard_rare
MONDO:0015059	biolink:Disease	progressive non-fluent aphasia	Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.	SCTID:716281000|GARD:0010793|MedDRA:10029542|NCIT:C85025|Orphanet:100070|MESH:D057178	mondo.json	Primary Progressive Nonfluent aphasia|non-fluent variant PPA|non-fluent primary progressive aphasia|Agramatic variant of PPA|Agramatic variant of primary progressive aphasia	http://purl.obolibrary.org/obo/MONDO_0015059	NCIT:C85025|http://identifiers.org/snomedct/716281000|Orphanet:100070|http://identifiers.org/mesh/D057178	ordo_disease|gard_rare
HGNC:17989	biolink:NamedThing	SLC22A12			mondo.json		http://identifiers.org/hgnc/17989		
MONDO:0015054	biolink:Disease	hereditary angioedema type 2	Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.	Orphanet:100051|UMLS:C1862892	mondo.json	hereditary angioneurotic edema type 2|HAE-II|HAE 2	http://purl.obolibrary.org/obo/MONDO_0015054	Orphanet:100051|UMLS:C1862892	ordo_etiological_subtype
MONDO:0015053	biolink:Disease	hereditary angioedema type 1	Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.	ICD9:279.8|Orphanet:100050|SCTID:234619000	mondo.json	HAE-I|hereditary angioneurotic edema type 1|HAE 1	http://purl.obolibrary.org/obo/MONDO_0015053	http://identifiers.org/snomedct/234619000|Orphanet:100050	ordo_etiological_subtype
MONDO:0015052	biolink:Disease	obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies	OBSOLETE. Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation.	UMLS:CN197343|Orphanet:100049	mondo.json	primary ILD specific to childhood due to pulmonary surfactant protein anomalies	http://purl.obolibrary.org/obo/MONDO_0015052	UMLS:CN197343|Orphanet:100049	ordo_group_of_disorders
MONDO:0015051	biolink:Disease	tubular duplication of the esophagus	Tubular duplication of the esophagous is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children.	Orphanet:100048	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015051	Orphanet:100048	ordo_morphological_anomaly
MONDO:0015058	biolink:Disease	obsolete Waterhouse-Friderichsen syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0015058		
MONDO:0015057	biolink:Disease	renin-angiotensin-aldosterone system-blocker-induced angioedema	Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.	OMIM:300909|Orphanet:100057|SCTID:403607004|UMLS:C1304495|GARD:0009445|MESH:C535293	mondo.json	reactive angioendotheliomatosis|angioedema induced by ACE inhibitors, susceptibility to|susceptibility to angioedema induced by ace inhibitors|Raas-blocker-induced angioedema|Raas-blocker-induced angioneurotic edema|AEACEI|RAE|renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema	http://purl.obolibrary.org/obo/MONDO_0015057	http://identifiers.org/mesh/C535293|Orphanet:100057|http://identifiers.org/snomedct/403607004|UMLS:C1304495	ordo_clinical_subtype
MONDO:0015056	biolink:Disease	acquired angioedema type 1	Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.	Orphanet:100056|UMLS:CN197348	mondo.json	acquired angioneurotic edema type 1	http://purl.obolibrary.org/obo/MONDO_0015056	UMLS:CN197348|Orphanet:100056	ordo_clinical_subtype
MONDO:0015055	biolink:Disease	acquired angioedema type 2	Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.	Orphanet:100055|UMLS:CN197347	mondo.json	AAE II|AAE 2|acquired angioneurotic edema type 2	http://purl.obolibrary.org/obo/MONDO_0015055	UMLS:CN197347|Orphanet:100055	ordo_clinical_subtype
MONDO:0027029	biolink:Disease	HHV-6 encephalitis	HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors.	GARD:0009667	mondo.json	Variant B or HHV-6B|Variant A or HHV-6A|Human Herpesvirus 6 encephalitis	http://purl.obolibrary.org/obo/MONDO_0027029		gard_rare
CHEBI:72813	biolink:ChemicalSubstance	exopolysaccharide	A biomacromolecule composed of carbohydrate residues which is secreted by a microorganism into the surrounding environment.		mondo.json	extracellular polymeric substance|extracellular polymeric substances|exopolysaccharides	http://purl.obolibrary.org/obo/CHEBI_72813		
MONDO:0003076	biolink:Disease	unilateral retinoblastoma	A retinoblastoma that only involves a single eye.	DOID:4651|UMLS:C0854915|NCIT:C8714	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003076	NCIT:C8714|UMLS:C0854915|DOID:4651	
HGNC:27310	biolink:NamedThing	FLCN			mondo.json		http://identifiers.org/hgnc/27310		
NCBITaxon:46877	biolink:OrganismalEntity	Drosophilini		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_46877		
MONDO:0003077	biolink:Disease	intraocular retinoblastoma	Retinoblastoma restricted to local involvement.	DOID:4653|NCIT:C7846|UMLS:C0278717	mondo.json	intraocular retinoblastoma	http://purl.obolibrary.org/obo/MONDO_0003077	DOID:4653|NCIT:C7846|UMLS:C0278717	
MONDO:0003078	biolink:Disease	extraocular retinoblastoma	Retinoblastoma that has spread beyond the eye e.g. to brain, soft tissue/bone, bone marrow.	NCIT:C7848|DOID:4656|UMLS:C0278719	mondo.json	extraocular retinoblastoma|metastatic retinoblastoma	http://purl.obolibrary.org/obo/MONDO_0003078	DOID:4656|NCIT:C7848|UMLS:C0278719	
MONDO:0003079	biolink:Disease	mastocytoma	A localized tumor composed of sheets of mast cells without atypia. It includes the cutaneous mastocytoma which involves the dermis and subcutaneous tissue, and the extracutaneous mastocytoma. Most cases of extracutaneous mastocytoma have been reported in the lung.	ICDO:9740/1|ICD9:238.5|MESH:D034801|NCIT:C9303|SCTID:404171008|UMLS:C0024897	mondo.json	mastocytoma	http://purl.obolibrary.org/obo/MONDO_0003079	UMLS:C0024897|http://identifiers.org/mesh/D034801|http://identifiers.org/snomedct/404171008|NCIT:C9303	
MONDO:0003072	biolink:Disease	retinal cancer	A malignant neoplasm involving the retina.	SCTID:363465007|ICD9:190.5|EFO:0005716|DOID:4645|MESH:D019572|NCIT:C3216	mondo.json	malignant retinal neoplasm|retinal tumor|malignant neoplasm of retina|retina cancer|malignant tumor of retina|malignant tumor of the retina|malignant retinal tumor|malignant retina neoplasm|malignant retina tumor|malignant neoplasm of the retina|cancer of retina	http://purl.obolibrary.org/obo/MONDO_0003072	http://identifiers.org/mesh/D019572|NCIT:C3216|http://identifiers.org/snomedct/363465007|DOID:4645	
MONDO:0030619	biolink:Disease	retinitis pigmentosa 92		OMIM:619614	mondo.json	RP92|retinitis pigmentosa 92	http://purl.obolibrary.org/obo/MONDO_0030619	https://omim.org/entry/619614	
MONDO:0027026	biolink:Disease	Buschke Lowenstein tumor	A verrucous carcinoma of the skin or mucosa that occurs in the anogenital region.	NCIT:C6371|UMLS:C0276264|SCTID:402910001|GARD:0009663|MESH:D062688	mondo.json	giant condyloma acuminatum involving the prepuce and glans penis|anogenital type verrucous carcinoma|condyloma Acuminatum, Giant|Giant condyloma of Buschke and Lowenstein|giant condyloma of Buschke and Lowenstein|tumor, Buschke Lowenstein|Buschke Lowenstein tumor|Lowenstein tumor, Buschke|tumor, Buschke-Lowenstein|Giant condyloma Acuminatums|GCBL|condyloma Acuminatums, Giant|Buschke-Lowenstein tumor|Giant condyloma Acuminatum	http://purl.obolibrary.org/obo/MONDO_0027026	http://identifiers.org/snomedct/402910001|UMLS:C0276264|NCIT:C6371|http://identifiers.org/mesh/D062688	gard_rare
MONDO:0003073	biolink:Disease	trilateral retinoblastoma	Trilateral retinoblastoma refers to bilateral (or less often unilateral) retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or suprasellar region. This syndrome is often associated with a increased familial incidence of retinoblastoma. (From Cancer 86(1): 135-141, 1999).	UMLS:C2608045|NCIT:C7019|DOID:4647	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003073	UMLS:C2608045|NCIT:C7019|DOID:4647	
MONDO:0003074	biolink:Disease	obsolete familial retinoblastoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003074		
MONDO:0003075	biolink:Disease	bilateral retinoblastoma	Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well.	DOID:4650|UMLS:C0854914|NCIT:C8713	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003075	UMLS:C0854914|DOID:4650|NCIT:C8713	
MONDO:0015049	biolink:Disease	solitary necrotic nodule of the liver	Solitary necrotic tumor of the liver is a rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort.	Orphanet:100035|UMLS:CN197336|SCTID:447058001	mondo.json	hepatic solitary necrotic nodule	http://purl.obolibrary.org/obo/MONDO_0015049	http://identifiers.org/snomedct/447058001|UMLS:CN197336|Orphanet:100035	ordo_disease
MONDO:0003070	biolink:Disease	axillary lymphadenitis	An infection of the lymph nodes in the axilla.	UMLS:C0919797|NCIT:C27333|DOID:4640	mondo.json	lymphadenitis (disease) of axilla|axillary adenitis|axilla lymphadenitis (disease)|axillary lymphadenitis	http://purl.obolibrary.org/obo/MONDO_0003070	UMLS:C0919797|DOID:4640|NCIT:C27333	
MONDO:0015048	biolink:Disease	amelogenesis imperfecta type 2		Orphanet:100033|SCTID:109475005|GARD:0008349|ICD9:520.5|MESH:C536606	mondo.json	amelogenesis imperfecta hypomaturation type|hypomaturation amelogenesis imperfecta	http://purl.obolibrary.org/obo/MONDO_0015048	http://identifiers.org/snomedct/109475005|http://identifiers.org/mesh/C536606|Orphanet:100033	ordo_clinical_subtype|clingen
MONDO:0003071	biolink:Disease	obsolete epidermolysis bullosa simplex			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003071		
CHEBI:60832	biolink:ChemicalSubstance	tubulin modulator	Any substance that interacts with tubulin to inhibit or promote polymerisation of microtubules.		mondo.json	tubulin modulators	http://purl.obolibrary.org/obo/CHEBI_60832		
MONDO:0015043	biolink:Disease	extramedullary soft tissue plasmacytoma		ICD10CM:C90.2|Orphanet:100022|UMLS:CN197328	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015043	UMLS:CN197328|Orphanet:100022	ordo_clinical_subtype
HGNC:17995	biolink:NamedThing	TRPM6			mondo.json		http://identifiers.org/hgnc/17995		
MONDO:0015042	biolink:Disease	primary plasmacytoma of the bone		Orphanet:100021|UMLS:CN197327	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015042	UMLS:CN197327|Orphanet:100021	ordo_clinical_subtype
HGNC:17994	biolink:NamedThing	TRPM7			mondo.json		http://identifiers.org/hgnc/17994		
MONDO:0015041	biolink:Disease	myelodysplastic syndrome with excess blasts-2	A myelodysplastic syndrome defined by 10-19% blasts in the bone marrow or 5-19% blasts in the blood and <10% blasts in the bone marrow. Approximately 33% of cases progress to acute leukemia. The prognosis is usually poor. (WHO)	NCIT:C7168|Orphanet:100020|UMLS:C1318551	mondo.json	RAEB-II|myelodysplastic syndrome with Excess blasts-2|refractory anemia with excess blasts type 2|RAEB-2|MDS-EB-2	http://purl.obolibrary.org/obo/MONDO_0015041	NCIT:C7168|Orphanet:100020|UMLS:C1318551	ordo_clinical_subtype
HGNC:17997	biolink:NamedThing	FKRP			mondo.json		http://identifiers.org/hgnc/17997		
MONDO:0015040	biolink:Disease	myelodysplastic syndrome with excess blasts-1	A myelodysplastic syndrome defined by 5-9% blasts in the bone marrow, and <5% blasts in the blood. Approximately 25% of cases progress to an acute leukemia. (WHO)	NCIT:C7167|UMLS:C1318550|Orphanet:100019	mondo.json	refractory anemia with excess blasts type 1|myelodysplastic syndrome with Excess blasts-1|RAEB-I|RAEB-1|MDS-EB-1	http://purl.obolibrary.org/obo/MONDO_0015040	NCIT:C7167|Orphanet:100019|UMLS:C1318550	ordo_clinical_subtype
HGNC:17996	biolink:NamedThing	NAGS			mondo.json		http://identifiers.org/hgnc/17996		
MONDO:0015047	biolink:Disease	amelogenesis imperfecta type 1		SCTID:109476006|Orphanet:100031|ICD9:520.5	mondo.json	hypoplastic amelogenesis imperfecta	http://purl.obolibrary.org/obo/MONDO_0015047	Orphanet:100031|http://identifiers.org/snomedct/109476006	ordo_clinical_subtype
MONDO:0015046	biolink:Disease	gamma-heavy chain disease	Gamma-heavy chain disease (gamma-HCD) is a type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.	Orphanet:100026|ICD9:273.2|NCIT:C3083|SCTID:109984001|GARD:0010346|DOID:0060127	mondo.json	Franklin disease|gamma-HCD|gamma heavy chain disease|Franklin's disease	http://purl.obolibrary.org/obo/MONDO_0015046	DOID:0060127|http://identifiers.org/snomedct/109984001|Orphanet:100026|NCIT:C3083	ordo_clinical_subtype
MONDO:0015045	biolink:Disease	alpha-heavy chain disease	Alpha-heavy chain disease (alpha-HCD) is a type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption.	ICDO:9764/3|DOID:0060126|NCIT:C3132|Orphanet:100025|ICDO:9760/3|MESH:D007161|UMLS:C0021071|EFO:1001798	mondo.json	Mediterranean lymphoma|Mediterranean abdominal lymphoma|Seligmann's disease|Alpha heavy chain disease|IPSID|alpha chain disease|Immunoproliferative small intestinal disease|Alpha-HCD|Mediterraneanl lymphoma	http://purl.obolibrary.org/obo/MONDO_0015045	http://identifiers.org/mesh/D007161|DOID:0060126|UMLS:C0021071|Orphanet:100025|NCIT:C3132	ordo_clinical_subtype
HGNC:17993	biolink:NamedThing	TRPM4			mondo.json		http://identifiers.org/hgnc/17993		
MONDO:0015044	biolink:Disease	mu-heavy chain disease	Mu-heavy chain disease (mu-HCD) is a type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).	Orphanet:100024|ICD9:273.2|SCTID:61493004|NCIT:C3892|DOID:0060128	mondo.json	mu heavy chain disease|mu-HCD|mu chain disease	http://purl.obolibrary.org/obo/MONDO_0015044	DOID:0060128|Orphanet:100024|http://identifiers.org/snomedct/61493004|NCIT:C3892	ordo_clinical_subtype
NCBITaxon:178830	biolink:OrganismalEntity	Bornaviridae		GC_ID:1|PMID:25449305	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_178830		
MONDO:0030625	biolink:Disease	dyskinesia with orofacial involvement, autosomal recessive		OMIM:619647	mondo.json	DSKOR|dyskinesia with orofacial involvement, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0030625	https://omim.org/entry/619647	
HGNC:30935	biolink:NamedThing	YY1AP1			mondo.json		http://identifiers.org/hgnc/30935		
MONDO:0017690	biolink:Disease	disorder of galactose metabolism		UMLS:C0342745|Orphanet:308467|SCTID:237963003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017690	UMLS:C0342745|Orphanet:308467|http://identifiers.org/snomedct/237963003	ordo_group_of_disorders|disease_grouping
MONDO:0003047	biolink:Disease	thymic large cell neuroendocrine carcinoma	An aggressive, non-small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and, almost always, necrosis.	UMLS:C1334364|NCIT:C6461|DOID:4553	mondo.json	thymus large cell carcinoma|large cell carcinoma of the Thymus|Thymus large cell carcinoma|thymus large cell neuroendocrine carcinoma|thymic large cell neuroendocrine carcinoma|large cell neuroendocrine carcinoma of thymus|large cell neuroendocrine carcinoma of Thymus|large cell neuroendocrine carcinoma of the Thymus|thymic LCNEC	http://purl.obolibrary.org/obo/MONDO_0003047	DOID:4553|NCIT:C6461|UMLS:C1334364	
HGNC:29944	biolink:NamedThing	TENM3			mondo.json		http://identifiers.org/hgnc/29944		
HGNC:29945	biolink:NamedThing	TENM4			mondo.json		http://identifiers.org/hgnc/29945		
MONDO:0003048	biolink:Disease	obsolete type C thymoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0003048		
MONDO:0003049	biolink:Disease	ovarian large-cell neuroendocrine carcinoma	A carcinoma that arises from the ovary and is characterized by the presence of large malignant cells exhibiting neuroendocrine differentiation. The prognosis is poor.	UMLS:C1335174|DOID:4555|NCIT:C5238	mondo.json	large cell neuroendocrine carcinoma of ovary|large-cell neuroendocrine carcinoma of the ovary|large-cell neuroendocrine carcinoma of ovary|non-small-cell type neuroendocrine carcinoma of the ovary|ovary large cell neuroendocrine carcinoma|ovarian large cell neuroendocrine carcinoma|non-small-cell type neuroendocrine carcinoma of ovary|ovarian large cell NEC|ovarian non-small-cell type neuroendocrine carcinoma|large cell neuroendocrine carcinoma of the ovary	http://purl.obolibrary.org/obo/MONDO_0003049	DOID:4555|NCIT:C5238|UMLS:C1335174	
MONDO:0003043	biolink:Disease	obsolete extraskeletal mesenchymal chondrosarcoma	OBSOLETE. A rare malignant tumor of soft tissue characterized by a bimorphic pattern composed of undifferentiated small round cells and islands of well differentiated hyaline cartilage.	ICD9:171.9|SCTID:404080006|DOID:4548|NCIT:C27481|UMLS:C1275279	mondo.json	mesenchymal extraosseous chondrosarcoma|mesenchymal extraskeletal chondrosarcoma	http://purl.obolibrary.org/obo/MONDO_0003043	DOID:4548|NCIT:C27481|UMLS:C1275279|http://identifiers.org/snomedct/404080006	
MONDO:0003044	biolink:Disease	obsolete extraosseous chondrosarcoma	OBSOLETE. A chondrosarcoma that is located in exclusively soft tissue.	DOID:4549	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003044	DOID:4549	
HGNC:29941	biolink:NamedThing	GATAD1			mondo.json		http://identifiers.org/hgnc/29941		
MONDO:0003045	biolink:Disease	anal gland neoplasm	Tumors or cancer of the anal gland.	MESH:D000694|EFO:1000804|DOID:4550|UMLS:C0002757	mondo.json	gland of anal canal neoplasm (disease)|neoplasm of gland of anal canal|gland of anal canal tumor|gland of anal canal neoplasm|tumor of gland of anal canal	http://purl.obolibrary.org/obo/MONDO_0003045	UMLS:C0002757|DOID:4550|http://identifiers.org/mesh/D000694	
MONDO:0003046	biolink:Disease	anus neoplasm	A benign or malignant neoplasm that affects the anal canal or anal margin. Representative examples of benign neoplasms include squamous papilloma and papillary hidradenoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and melanoma.	SCTID:126849006|DOID:4551|NCIT:C2877|UMLS:C0003463|EFO:0003835|MESH:D001005	mondo.json	neoplasm of anus|tumor of anus|anus neoplasm|neoplasm of the anus|anal neoplasm|anus tumor|anal tumor|anal tumors|anal neoplasms, benign and malignant|tumor of the anus|anus neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0003046	NCIT:C2877|DOID:4551|http://identifiers.org/snomedct/126849006|UMLS:C0003463|http://identifiers.org/mesh/D001005	
MONDO:0003040	biolink:Disease	retrograde amnesia	The loss of access to memories that were previously encoded; this disorder is most commonly preceded by trauma, including physical brain injury, stroke, or seizure, but may also be psychogenic in origin. Memory loss may be temporary or permanent, but the ability to encode new memories or skills is not generally affected.	MESH:D000648|DOID:4543|ICD10CM:R41.2	mondo.json		http://purl.obolibrary.org/obo/MONDO_0003040	http://identifiers.org/mesh/D000648|DOID:4543|http://purl.bioontology.org/ontology/ICD10CM/R41.2	
MONDO:0003041	biolink:Disease	pediatric mesenchymal chondrosarcoma	A mesenchymal chondrosarcoma occurring in children.	DOID:4546|UMLS:C1332982|NCIT:C27374	mondo.json	mesenchymal chondrosarcoma of childhood|pediatric mesenchymal chondrosarcoma|childhood mesenchymal chondrosarcoma|mesenchymal chondrosarcoma	http://purl.obolibrary.org/obo/MONDO_0003041	UMLS:C1332982|DOID:4546|NCIT:C27374	
HGNC:30939	biolink:NamedThing	ZFHX4			mondo.json		http://identifiers.org/hgnc/30939		
MONDO:0003042	biolink:Disease	adult mesenchymal chondrosarcoma	A mesenchymal chondrosarcoma occurring in adults.	DOID:4547|NCIT:C27375|UMLS:C1332207	mondo.json	mesenchymal chondrosarcoma of adults|adult mesenchymal chondrosarcoma	http://purl.obolibrary.org/obo/MONDO_0003042	DOID:4547|NCIT:C27375|UMLS:C1332207	
MONDO:0042604	biolink:Disease	Sandhaus-Ben-Ami syndrome		UMLS:C2931451|GARD:0000154|MESH:C537233	mondo.json	Sandhaus Ben-Ami syndrome|patella hypoplasia skeletal malformations	http://purl.obolibrary.org/obo/MONDO_0042604	http://identifiers.org/mesh/C537233|UMLS:C2931451	gard_rare
MONDO:0015039	biolink:Disease	lissencephaly with cerebellar hypoplasia type F	Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.	Orphanet:100016|UMLS:C4274989|SCTID:715822007|UMLS:CN228905	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015039	UMLS:CN228905|http://identifiers.org/snomedct/715822007|UMLS:C4274989|Orphanet:100016	ordo_malformation_syndrome
MONDO:0042605	biolink:Disease	Y chromosome infertility due to DAZ1 deletion		HGNC:2682|GARD:0000185	mondo.json	DAZ|male sterility due to Y-chromosome deletions|Y chromosome infertility|Y chromosome microdeletions|deleted in azoospermia	http://purl.obolibrary.org/obo/MONDO_0042605		gard_rare
MONDO:0015038	biolink:Disease	lissencephaly with cerebellar hypoplasia type E	Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (B1 3 SD) and brainstem hypoplasia.	Orphanet:100015|UMLS:CN228904	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015038	UMLS:CN228904|Orphanet:100015	ordo_malformation_syndrome
MONDO:0015037	biolink:Disease	lissencephaly with cerebellar hypoplasia type D	Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.	SCTID:715821000|Orphanet:100014|UMLS:C4274991|UMLS:CN228903	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015037	UMLS:CN228903|UMLS:C4274991|http://identifiers.org/snomedct/715821000|Orphanet:100014	ordo_malformation_syndrome
HP:0006753	biolink:PhenotypicFeature	Neoplasm of the stomach	A tumor (abnormal growth of tissue) of the stomach.	UMLS:C4020813|UMLS:C0038356|NCIT:C3262|SNOMEDCT_US:126824007|MSH:D013274	mondo.json	Stomach tumor|Neoplasia of the stomach|Stomach tumour	http://purl.obolibrary.org/obo/HP_0006753		
MONDO:0017699	biolink:Disease	glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form		MedDRA:10053250|UMLS:C0017922|Orphanet:308684	mondo.json	GBE deficiency, childhood combined hepatic and myopathic form|glycogenosis type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form|glycogenosis type IV, childhood combined hepatic and myopathic form|GSDIV, childhood combined hepatic and myopathic form|GSD type 4, childhood combined hepatic and myopathic form|glycogen storage disease type 4, childhood combined hepatic and myopathic form|GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form|glycogen storage disease type IV, childhood combined hepatic and myopathic form	http://purl.obolibrary.org/obo/MONDO_0017699	Orphanet:308684	ordo_clinical_subtype
MONDO:0042600	biolink:Disease	Sammartino-Decreccio syndrome		GARD:0000150	mondo.json	Sammartino Decreccio syndrome|superficial annular corneal dystrophy, ichthyosis nigrans, microcephaly and mild mental subnormality	http://purl.obolibrary.org/obo/MONDO_0042600		gard_rare
HGNC:17966	biolink:NamedThing	CEP83			mondo.json		http://identifiers.org/hgnc/17966		
MONDO:0042601	biolink:Disease	Samson-Gardner syndrome		UMLS:C2931448|GARD:0000151|MESH:C537230	mondo.json	Samson Gardner syndrome|craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia	http://purl.obolibrary.org/obo/MONDO_0042601	http://identifiers.org/mesh/C537230|UMLS:C2931448	gard_rare
MONDO:0042602	biolink:Disease	Samson-Viljoen syndrome		GARD:0000152|MESH:C537231|UMLS:C2931449	mondo.json	Samson Viljoen syndrome|lateral facial cleft, cleft lip and palate, anophthalmia, microtia, clavicular agenesis and asternia	http://purl.obolibrary.org/obo/MONDO_0042602	http://identifiers.org/mesh/C537231|UMLS:C2931449	gard_rare
OBO:ECTO_0000371	biolink:NamedThing	exposure to oxygen molecular entity	An exposure to oxygen molecular entity.		mondo.json	exposure to oxygen molecular entity	http://purl.obolibrary.org/obo/ECTO_0000371		
MONDO:0042603	biolink:Disease	Sanderson-Fraser syndrome		UMLS:C2931450|GARD:0000153|MESH:C537232	mondo.json	proptosis, Robin association, clenched hands, and multiple abnormalities|Sanderson Fraser syndrome	http://purl.obolibrary.org/obo/MONDO_0042603	http://identifiers.org/mesh/C537232|UMLS:C2931450	gard_rare
HGNC:17967	biolink:NamedThing	IRAK4			mondo.json		http://identifiers.org/hgnc/17967		
MONDO:0017695	biolink:Disease	glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form		UMLS:CN203594|Orphanet:308621	mondo.json	GBE deficiency, progressive hepatic form|GSD due to glycogen branching enzyme deficiency, progressive hepatic form|glycogen storage disease type IV, progressive hepatic form|glycogen storage disease type 4, progressive hepatic form|GSD type 4, progressive hepatic form|GSDIV, progressive hepatic form|glycogenosis type IV, progressive hepatic form|glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form|glycogenosis type 4, progressive hepatic form	http://purl.obolibrary.org/obo/MONDO_0017695	Orphanet:308621|UMLS:CN203594	ordo_clinical_subtype
MONDO:0015032	biolink:Disease	intraneural perineurioma	A WHO grade I perineurioma that arises within the endoneurium. It is characterized by the formation of pseudo-onion bulbs by the proliferating perineural cells.	Orphanet:100003|DOID:4696|NCIT:C6911|GARD:0010921|UMLS:C1370658|SCTID:768934004	mondo.json	intraneural perineurioma|intraneural perineurioma (WHO grade I)	http://purl.obolibrary.org/obo/MONDO_0015032	DOID:4696|NCIT:C6911|UMLS:C1370658|Orphanet:100003|http://identifiers.org/snomedct/768934004	gard_rare|ordo_disease
MONDO:0017696	biolink:Disease	glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form		Orphanet:308638|UMLS:CN203595	mondo.json	glycogenosis type IV, non progressive hepatic form|glycogenosis type 4, non progressive hepatic form|glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form|GBE deficiency, non progressive hepatic form|glycogen storage disease type IV, non progressive hepatic form|GSD due to glycogen branching enzyme deficiency, non progressive hepatic form|glycogen storage disease type 4, non progressive hepatic form|GSD type 4, non progressive hepatic form|GSDIV, non progressive hepatic form	http://purl.obolibrary.org/obo/MONDO_0017696	Orphanet:308638|UMLS:CN203595	ordo_clinical_subtype
MONDO:0015031	biolink:Disease	extraneural perineurioma	Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization.	SCTID:768926005|Orphanet:100002|UMLS:CN197321	mondo.json	soft tissue perineurioma	http://purl.obolibrary.org/obo/MONDO_0015031	http://identifiers.org/snomedct/768926005|UMLS:CN197321|Orphanet:100002	ordo_disease
MONDO:0017697	biolink:Disease	glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form		UMLS:C1856303|Orphanet:308655	mondo.json	GSDIV, fatal perinatal neuromuscular form|glycogenosis type IV, fatal perinatal neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogenosis type 4, fatal perinatal neuromuscular form|GBE deficiency, fatal perinatal neuromuscular form|glycogen storage disease type IV, fatal perinatal neuromuscular form|GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogen storage disease type 4, fatal perinatal neuromuscular form|GSD type 4, fatal perinatal neuromuscular form	http://purl.obolibrary.org/obo/MONDO_0017697	UMLS:C1856303|Orphanet:308655	ordo_clinical_subtype
HGNC:17964	biolink:NamedThing	RDH11			mondo.json		http://identifiers.org/hgnc/17964		
MONDO:0015030	biolink:Disease	sclerosing perineurioma		Orphanet:100001|UMLS:CN197320	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015030	UMLS:CN197320|Orphanet:100001	ordo_clinical_subtype
MONDO:0017698	biolink:Disease	glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form		Orphanet:308670|UMLS:C1856304	mondo.json	GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form|glycogen storage disease type IV, congenital neuromuscular form|GBE deficiency, congenital neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form|glycogenosis type 4, congenital neuromuscular form|glycogenosis type IV, congenital neuromuscular form|GSDIV, congenital neuromuscular form|GSD type 4, congenital neuromuscular form|glycogen storage disease type 4, congenital neuromuscular form	http://purl.obolibrary.org/obo/MONDO_0017698	UMLS:C1856304|Orphanet:308670	ordo_clinical_subtype
MONDO:0015036	biolink:Disease	lissencephaly with cerebellar hypoplasia type C	Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.	UMLS:CN228902|Orphanet:100013|UMLS:C4274992|SCTID:715820004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015036	UMLS:C4274992|http://identifiers.org/snomedct/715820004|Orphanet:100013|UMLS:CN228902	ordo_malformation_syndrome
MONDO:0017691	biolink:Disease	erythrocyte galactose epimerase deficiency		UMLS:C0574090|Orphanet:308473|SCTID:297238008	mondo.json	erythrocyte uridine diphosphate galactose-4-epimerase deficiency|erythrocyte UDP-galactose-4-epimerase deficiency|erythrocyte GALE deficiency|erythrocyte epimerase deficiency galactosemia|erythrocyte GALE-D	http://purl.obolibrary.org/obo/MONDO_0017691	Orphanet:308473|UMLS:C0574090|http://identifiers.org/snomedct/297238008	ordo_clinical_subtype
MONDO:0015035	biolink:Disease	lissencephaly with cerebellar hypoplasia type B	Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb.	UMLS:CN228901|SCTID:715819005|Orphanet:100012|UMLS:C4274993	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015035	UMLS:C4274993|Orphanet:100012|http://identifiers.org/snomedct/715819005|UMLS:CN228901	ordo_malformation_syndrome
MONDO:0017692	biolink:Disease	generalized galactose epimerase deficiency		SCTID:297237003|Orphanet:308487|UMLS:C0574089	mondo.json	generalized GALE-D|generalized GALE deficiency|generalized uridine diphosphate galactose-4-epimerase deficiency|generalized UDP-galactose-4-epimerase deficiency|generalized epimerase deficiency galactosemia	http://purl.obolibrary.org/obo/MONDO_0017692	Orphanet:308487|UMLS:C0574089|http://identifiers.org/snomedct/297237003	ordo_clinical_subtype
MONDO:0017693	biolink:Disease	obsolete glycogen storage disease due to glycogen synthase deficiency		Orphanet:308520|UMLS:CN203589	mondo.json	GSD0|glycogenosis due to glycogen synthase deficiency|GSD due to glycogen synthase deficiency|glycogen storage disease type 0	http://purl.obolibrary.org/obo/MONDO_0017693	Orphanet:308520|UMLS:CN203589	ordo_group_of_disorders
MONDO:0015034	biolink:Disease	lissencephaly with cerebellar hypoplasia type A	Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernable gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia.	UMLS:CN228900|Orphanet:100011	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015034	Orphanet:100011|UMLS:CN228900	ordo_malformation_syndrome
MONDO:0015033	biolink:Disease	ABeta amyloidosis, dutch type	Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.	Orphanet:100006|ICD10EXP:E85.4+|SCTID:56453003|ICD10EXP:I68.0*|ICD9:277.39	mondo.json	cerebral amyloid angiopathy, APP-related, Dutch variant|ABetaE22Q amyloidosis|hereditary cerebral hemorrhage with amyloidosis, Dutch type|HCHWA-D|HCHWA, Dutch type	http://purl.obolibrary.org/obo/MONDO_0015033	http://identifiers.org/snomedct/56453003|Orphanet:100006	ordo_clinical_subtype
MONDO:0017694	biolink:Disease	glycogen storage disease due to acid maltase deficiency, infantile onset	Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.	UMLS:C3888924|SCTID:722302009|UMLS:CN203590|Orphanet:308552	mondo.json	glycogenosis type II, infantile onset|GSD type 2, infantile onset|GSD due to acid maltase deficiency, infantile onset|glycogen storage disease type 2, infantile onset|alpha-1,4-glucosidase acid deficiency, infantile onset|glycogen storage disease type II, infantile onset|GSD type II, infantile onset|glycogenosis type 2, infantile onset|glycogenosis due to acid maltase deficiency, infantile onset|Pompe disease, infantile onset	http://purl.obolibrary.org/obo/MONDO_0017694	http://identifiers.org/snomedct/722302009|Orphanet:308552|UMLS:CN203590|UMLS:C3888924	ordo_clinical_subtype
HGNC:30927	biolink:NamedThing	SLC6A20			mondo.json		http://identifiers.org/hgnc/30927		
MONDO:0030639	biolink:Disease	Teebi hypertelorism syndrome		OMIMPS:145420	mondo.json		http://purl.obolibrary.org/obo/MONDO_0030639	https://omim.org/phenotypicSeries/PS145420	
MONDO:0003058	biolink:Disease	microcystic meningioma	A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid.	EFO:1000376|NCIT:C4721|UMLS:C1384408|DOID:4594	mondo.json	microcystic meningioma|microcystic meningioma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003058	DOID:4594|UMLS:C1384408|NCIT:C4721	
HGNC:30922	biolink:NamedThing	LINS1			mondo.json		http://identifiers.org/hgnc/30922		
MONDO:0003059	biolink:Disease	bile duct cancer	A malignant neoplasm involving the bile duct	NCIT:C2898|NCIT:C7483|SCTID:363416002|UMLS:C0153453|DOID:4606|ICD9:156.1|UMLS:C0005396	mondo.json	cancer of bile duct|bile duct cancer|malignant bile duct neoplasm|bile duct tumor|malignant neoplasm of the extrahepatic bile duct|malignant neoplasm of bile duct|Ca extrahepatic bile ducts	http://purl.obolibrary.org/obo/MONDO_0003059	DOID:4606	
MONDO:0030634	biolink:Disease	leukoencephalopathy, hereditary diffuse, with spheroids 2		OMIM:619661	mondo.json	leukoencephalopathy, hereditary diffuse, with spheroids, swedish IIA|leukoencephalopathy, hereditary diffuse, with spheroids 2|HDLS2	http://purl.obolibrary.org/obo/MONDO_0030634	https://omim.org/entry/619661	
MONDO:0003054	biolink:Disease	benign meningioma	A grade I, slowly growing meningioma. Only a minority of tumors recur following complete resection.	DOID:4587|UMLS:C0281784|NCIT:C4055|SCTID:724171006	mondo.json	benign meningioma (WHO grade I)|meningioma, benign|meningioma (disease), benign	http://purl.obolibrary.org/obo/MONDO_0003054	DOID:4587|UMLS:C0281784|NCIT:C4055|http://identifiers.org/snomedct/724171006	
MONDO:0003055	biolink:Disease	secretory meningioma	A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen.	DOID:4588|UMLS:C1384406|EFO:1000522|NCIT:C4718	mondo.json	secretory meningioma (morphologic abnormality)|secretory meningioma	http://purl.obolibrary.org/obo/MONDO_0003055	DOID:4588|UMLS:C1384406|NCIT:C4718	
OBO:ECTO_9000519	biolink:NamedThing	exposure to dioxygen	An exposure to dioxygen.		mondo.json	exposure to dioxygen	http://purl.obolibrary.org/obo/ECTO_9000519		
MONDO:0003056	biolink:Disease	lymphoplasmacyte-rich meningioma	A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells.	EFO:1000342|UMLS:C0431119|DOID:4591|NCIT:C4720	mondo.json	lymphoplasmocyte-rich meningioma|lymphoplasmacyte-rich meningioma|lymphoplasmocyte-rich meningioma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003056	DOID:4591|UMLS:C0431119|NCIT:C4720	
MONDO:0003057	biolink:Disease	pediatric meningioma	A meningioma that occurs during childhood.	NCIT:C8264|DOID:4593|UMLS:C0280656	mondo.json	childhood meningioma|pediatric meningioma (disease)|meningioma|pediatric meningioma|meningioma (disease) of childhood|childhood meningioma (disease)	http://purl.obolibrary.org/obo/MONDO_0003057	NCIT:C8264|DOID:4593|UMLS:C0280656	
MONDO:0003050	biolink:Disease	lung large cell carcinoma	A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation. There is a male predilection.	SCTID:254629004|ONCOTREE:LCLC|NCIT:C4450|UMLS:C0345958|EFO:0003050|EFO:1000016|ICD9:162.9|DOID:4556	mondo.json	large cell carcinoma of lung|large cell carcinoma of the lung|large cell undifferentiated lung carcinoma|lung large cell carcinoma|large cell lung carcinoma|anaplastic lung carcinoma|large cell lung cancer|LCLC	http://purl.obolibrary.org/obo/MONDO_0003050	DOID:4556|http://identifiers.org/snomedct/254629004|NCIT:C4450|UMLS:C0345958	
MONDO:0003051	biolink:Disease	non specific chronic endometritis	Chronic endometritis characterized by the presence of plasmacytic infiltrates in the endometrium. There are no granulomas present.	DOID:4560|UMLS:C1335061|NCIT:C27625	mondo.json	non specific chronic endometritis	http://purl.obolibrary.org/obo/MONDO_0003051	DOID:4560|NCIT:C27625|UMLS:C1335061	
MONDO:0003052	biolink:Disease	granulomatous endometritis	Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis.	DOID:4561|NCIT:C27626|UMLS:C1333876	mondo.json	granulomatous endometritis	http://purl.obolibrary.org/obo/MONDO_0003052	DOID:4561|NCIT:C27626|UMLS:C1333876	
MONDO:0003053	biolink:Disease	choroid plexus meningioma	A meningioma that affects the choroid plexus.	NCIT:C4719|DOID:4584|UMLS:C0431118	mondo.json	meningioma (disease) of choroid plexus|choroid plexus meningioma|choroid meningioma (morphologic abnormality)|choroid plexus meningioma (disease)|meningioma of choroid plexus|meningioma of the choroid plexus	http://purl.obolibrary.org/obo/MONDO_0003053	DOID:4584|UMLS:C0431118|NCIT:C4719	
MONDO:0015029	biolink:Disease	reticular perineurioma		Orphanet:100000|UMLS:CN197319	mondo.json		http://purl.obolibrary.org/obo/MONDO_0015029	UMLS:CN197319|Orphanet:100000	ordo_clinical_subtype
MONDO:0015028	biolink:Disease	48,XXYY syndrome	The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males.	ICD9:758.81|GARD:0005677|Orphanet:10|UMLS:C2936741|SCTID:403760006|MedDRA:10048230|NCIT:C89801	mondo.json	48,XXYY variant of Klinefelter's syndrome|48,XXYY Klinefelter syndrome|48, XXYY syndrome|XXYY syndrome	http://purl.obolibrary.org/obo/MONDO_0015028	http://identifiers.org/snomedct/403760006|UMLS:C2936741|NCIT:C89801|Orphanet:10	gard_rare|ordo_malformation_syndrome
MONDO:0015027	biolink:Disease	familial isolated hyperparathyroidism	A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors.	Orphanet:99879|NCIT:C94830|UMLS:CN207422	mondo.json	FIHP|familial isolated hyperparathyroidism|FIHPT	http://purl.obolibrary.org/obo/MONDO_0015027	Orphanet:99879|NCIT:C94830|UMLS:CN207422	ordo_disease
MONDO:0015026	biolink:Disease	cerebroretinal microangiopathy with calcifications and cysts 2	Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene.	UMLS:CN240513|OMIM:617341	mondo.json	CRMCC2|cerebroretinal microangiopathy with calcifications and cysts type 2|Coats plus syndrome caused by mutation in STN1|cerebroretinal microangiopathy with calcifications and cysts 2|STN1 Coats plus syndrome	http://purl.obolibrary.org/obo/MONDO_0015026	https://omim.org/entry/617341|UMLS:CN240513	
MONDO:0017688	biolink:Disease	disorder of glycolysis		Orphanet:308459|UMLS:CN227176	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017688	Orphanet:308459|UMLS:CN227176	disease_grouping|ordo_group_of_disorders
MONDO:0017689	biolink:Disease	disorder of fructose metabolism		Orphanet:308463|SCTID:39452003|UMLS:C0342744	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017689	UMLS:C0342744|http://identifiers.org/snomedct/39452003|Orphanet:308463	disease_grouping|ordo_group_of_disorders
HGNC:17978	biolink:NamedThing	B3GALT6			mondo.json		http://identifiers.org/hgnc/17978		
MONDO:0017684	biolink:Disease	disorder of beta and omega amino acid metabolism		ICD9:270.8|UMLS:C0342707|Orphanet:308407|SCTID:237940008	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017684	UMLS:C0342707|Orphanet:308407|http://identifiers.org/snomedct/237940008	disease_grouping|ordo_group_of_disorders
MONDO:0015021	biolink:Disease	hypotonia, ataxia, and delayed development syndrome		UMLS:C4310618|OMIM:617330	mondo.json	hypotonia, ataxia, and delayed development syndrome; HADDS|HADDS|hypotonia, ataxia, and delayed development syndrome	http://purl.obolibrary.org/obo/MONDO_0015021	https://omim.org/entry/617330|UMLS:C4310618	
MONDO:0015020	biolink:Disease	intellectual disability, autosomal recessive 59	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene.	UMLS:C4310619|OMIM:617323	mondo.json	IMPA1 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 59|intellectual disability, autosomal recessive type 59|autosomal recessive non-syndromic intellectual disability caused by mutation in IMPA1|MRT59|mental retardation, autosomal recessive type 59|intellectual disability, autosomal recessive 59	http://purl.obolibrary.org/obo/MONDO_0015020	https://omim.org/entry/617323|UMLS:C4310619	
MONDO:0017685	biolink:Disease	vitamin B12-responsive methylmalonic acidemia, type cblDv2		OMIM:277410|UMLS:CN203582|Orphanet:308442	mondo.json	vitamin B12-responsive methylmalonic aciduria, type cblDv2	http://purl.obolibrary.org/obo/MONDO_0017685	Orphanet:308442|UMLS:CN203582	ordo_clinical_subtype
MONDO:0017686	biolink:Disease	inborn aminoacylase deficiency	An inherited metabolic disease that is has its basis in the disruption of aminoacylase activity.	Orphanet:308448	mondo.json	inborn aminoacylase activity disorder|rare inborn error of aminoacylase activity|inborn error of aminoacylase activity|aminoacylase deficiency	http://purl.obolibrary.org/obo/MONDO_0017686	Orphanet:308448	disease_grouping|ordo_group_of_disorders
HGNC:17975	biolink:NamedThing	REEP2			mondo.json		http://identifiers.org/hgnc/17975		
MONDO:0017687	biolink:Disease	disorder of neutral amino acid transport	An inherited metabolic disease that is has its basis in the disruption of neutral amino acid transport.	Orphanet:308451|UMLS:CN203583	mondo.json	rare inborn error of neutral amino acid transport|inborn neutral amino acid transport disorder|inborn error of neutral amino acid transport	http://purl.obolibrary.org/obo/MONDO_0017687	Orphanet:308451|UMLS:CN203583	disease_grouping|ordo_group_of_disorders
MONDO:0015025	biolink:Disease	developmental and epileptic encephalopathy, 51	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene.	DOID:0080433|OMIM:617339|UMLS:CN240510|UMLS:C4479208	mondo.json	epileptic encephalopathy, early infantile, type 51|epileptic encephalopathy, early infantile, 51; EIEE51|DEE51|EIEE51|MDH2 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 51|early infantile epileptic encephalopathy caused by mutation in MDH2|developmental and epileptic encephalopathy 51	http://purl.obolibrary.org/obo/MONDO_0015025	UMLS:C4479208|DOID:0080433|https://omim.org/entry/617339|UMLS:CN240510	
MONDO:0017680	biolink:Disease	obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature		UMLS:CN203567|Orphanet:308041	mondo.json	autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature	http://purl.obolibrary.org/obo/MONDO_0017680	Orphanet:308041|UMLS:CN203567	
MONDO:0017681	biolink:Disease	erythrokeratoderma variabilis progressiva	A type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP.	Orphanet:308166	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017681	Orphanet:308166	ordo_group_of_disorders|disease_grouping
MONDO:0015024	biolink:Disease	ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type	Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene.	OMIM:617337|UMLS:C4310616|DOID:0111652	mondo.json	ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type; ECTD12|ectodermal dysplasia 12, hypohidrotic/hair/Tooth/nail type|ectodermal dysplasia syndrome caused by mutation in KDF1|KDF1 ectodermal dysplasia syndrome|ECTD12	http://purl.obolibrary.org/obo/MONDO_0015024	UMLS:C4310616|https://omim.org/entry/617337|DOID:0111652	
MONDO:0015023	biolink:Disease	MYPN-related myopathy	Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions.	UMLS:C4479695|OMIM:617336|DOID:0110933|UMLS:C4479186|UMLS:CN240509	mondo.json	nemaline myopathy 11|nemaline myopathy caused by mutation in MYPN|nemaline myopathy type 11|nemaline myopathy 11, autosomal recessive|NEM11|MYPN-related myopathy|MYPN nemaline myopathy	http://purl.obolibrary.org/obo/MONDO_0015023	UMLS:C4479186|https://omim.org/entry/617336|UMLS:CN240509|DOID:0110933	
MONDO:0017682	biolink:Disease	intellectual disability-polydactyly-uncombable hair syndrome	Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.	MESH:C537615|UMLS:C2931547|GARD:0003141|Orphanet:3082	mondo.json	intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair|Kozlowski-Krajewska syndrome|mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair	http://purl.obolibrary.org/obo/MONDO_0017682	http://identifiers.org/mesh/C537615|UMLS:C2931547|Orphanet:3082	ordo_malformation_syndrome
MONDO:0015022	biolink:Disease	intellectual developmental disorder with dysmorphic facies and ptosis		EFO:0009070|UMLS:C4310617|OMIM:617333	mondo.json	IDDDFP|intellectual developmental disorder with dysmorphic facies and ptosis; IDDDFP|intellectual developmental disorder with dysmorphic facies and ptosis	http://purl.obolibrary.org/obo/MONDO_0015022	UMLS:C4310617|https://omim.org/entry/617333	
MONDO:0017683	biolink:Disease	methylcobalamin deficiency type cblDv1		OMIM:277410|Orphanet:308380|UMLS:CN203574	mondo.json	functional methionine synthase deficiency type cblDv1	http://purl.obolibrary.org/obo/MONDO_0017683	Orphanet:308380|UMLS:CN203574	ordo_clinical_subtype
MONDO:0005604	biolink:Disease	obsolete plasma cell leukemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005604		
UBERON:0016880	biolink:AnatomicalEntity	future nervous system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016880		
MONDO:0005603	biolink:Disease	pancreatic tubular adenocarcinoma	A tubular adenocarcinoma that involves the pancreas.	EFO:0006471	mondo.json	pancreas tubular adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005603		
MONDO:0005606	biolink:Disease	tubular adenocarcinoma	An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma.	ICDO:8211/3|NCIT:C65192|DOID:4929|EFO:0006500|UMLS:C0205645	mondo.json	tubular adenocarcinoma|carcinoma, tubular cell, malignant|tubular carcinoma|tubular adenocarcinoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0005606	DOID:4929|UMLS:C0205645|NCIT:C65192	
MONDO:0005605	biolink:Disease	transitional cell papilloma	A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity.	NCIT:C4115|DOID:2670|UMLS:C0334266|EFO:0006497|ICDO:8120/0	mondo.json	transitional cell papilloma NOS (morphologic abnormality)|transitional papilloma|transitional cell papilloma|transitional cell papilloma, benign (morphologic abnormality)|papilloma, transitional cell, benign|transitional cell papilloma, benign	http://purl.obolibrary.org/obo/MONDO_0005605	DOID:2670|NCIT:C4115|UMLS:C0334266	
MONDO:0005600	biolink:Disease	obsolete ovarian adenocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005600		
MONDO:0005602	biolink:Disease	ovarian teratoma	A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor.	SCTID:716077006|DOID:5567|NCIT:C8110|EFO:0006463|UMLS:C0280131	mondo.json	ovarian teratoma|germ cell teratoma of ovary|teratoma of the ovary|teratoma of ovary|ovarian germ cell teratoma|germ cell teratoma of the ovary	http://purl.obolibrary.org/obo/MONDO_0005602	NCIT:C8110|DOID:5567|UMLS:C0280131|http://identifiers.org/snomedct/716077006	
MONDO:0005601	biolink:Disease	ovarian mucinous adenocarcinoma	An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations.	Orphanet:398961|UMLS:CN205033|EFO:0006462|NCIT:C5243|UMLS:C1335167|DOID:3606	mondo.json	mucinous carcinoma of ovary|ovarian mucinous carcinoma|mucinous carcinoma of the ovary|mucinous adenocarcinoma of ovary|ovarian mucinous adenocarcinoma|mucinous adenocarcinoma of the ovary|ovary mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005601	DOID:3606|UMLS:CN205033|Orphanet:398961|NCIT:C5243|UMLS:C1335167	ordo_disease
UBERON:0016888	biolink:AnatomicalEntity	transitional anatomical structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016888		
CHR:9606-chr14q24.1-q24.3	biolink:NamedThing	14q24.1-q24.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr14q24.1-q24.3		
UBERON:0016887	biolink:AnatomicalEntity	entire extraembryonic component			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016887		
UBERON:0016884	biolink:AnatomicalEntity	shoulder joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016884		
UBERON:0016886	biolink:AnatomicalEntity	muscle tissue of terminal part of digestive tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016886		
CHEBI:47882	biolink:ChemicalSubstance	cyclic polypyrrole			mondo.json	macrocyclic polypyrroles|polypyrrole macrocycles|cyclic polypyrroles	http://purl.obolibrary.org/obo/CHEBI_47882		
UBERON:0016885	biolink:AnatomicalEntity	epithelium of terminal part of digestive tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016885		
CHEBI:33232	biolink:ChemicalSubstance	application	Intended use of the molecular entity or part thereof by humans.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_33232		
CHEBI:33233	biolink:ChemicalSubstance	fundamental particle	A particle not known to have substructure.		mondo.json	elementary particles|elementary particle	http://purl.obolibrary.org/obo/CHEBI_33233		
UBERON:0002241	biolink:AnatomicalEntity	chondrocranium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002241		
UBERON:0002240	biolink:AnatomicalEntity	spinal cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002240		
HGNC:17944	biolink:NamedThing	EXOSC3			mondo.json		http://identifiers.org/hgnc/17944		
CHEBI:33238	biolink:ChemicalSubstance	monoatomic entity	A monoatomic entity is a molecular entity consisting of a single atom.		mondo.json	atomic entity|monoatomic entities	http://purl.obolibrary.org/obo/CHEBI_33238		
CHEBI:59869	biolink:ChemicalSubstance	L-alpha-amino acid zwitterion	Zwitterionic form of an L-alpha-amino acid having an anionic carboxy group and a protonated amino group.		mondo.json	L-alpha-amino acid zwitterions|an L-alpha-amino acid	http://purl.obolibrary.org/obo/CHEBI_59869		
UBERON:0002247	biolink:AnatomicalEntity	uterine horn			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002247		
UBERON:0002242	biolink:AnatomicalEntity	nucleus pulposus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002242		
UBERON:0002244	biolink:AnatomicalEntity	premaxilla			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002244		
MONDO:0005615	biolink:Disease	plasmacytoma	Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations.	Orphanet:86855|ICDO:9731/3|MESH:D010954|UMLS:C0032131|GARD:0007404|MedDRA:10035484|NCIT:C9349|DOID:3721|ICD9:238.6|EFO:0006738|SCTID:415112005	mondo.json	plasmacytoma|anaplastic solitary extramedullary plasmacytoma of the cecum (type)|extramedullary anaplastic plasmacytoma (type)|myeloma, solitary|anaplastic skeletal plasmacytoma (type)|myeloma - solitary|anaplastic plasmacytoma|solitary plasmacytoma|solitary myeloma	http://purl.obolibrary.org/obo/MONDO_0005615	NCIT:C9349|http://identifiers.org/snomedct/415112005|Orphanet:86855|DOID:3721|http://identifiers.org/mesh/D010954|UMLS:C0032131	ordo_disease
HGNC:29937	biolink:NamedThing	CCDC65			mondo.json		http://identifiers.org/hgnc/29937		
MONDO:0005614	biolink:Disease	pancreatic adenosquamous carcinoma	A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma.	EFO:0006732|ONCOTREE:PAASC|NCIT:C5721|UMLS:C1335299|DOID:5637	mondo.json	pancreatic adenoacanthoma|pancreas adenosquamous carcinoma|adenosquamous carcinoma of pancreas|pancreatic adenosquamous carcinoma|adenosquamous carcinoma of the pancreas|adenosquamous pancreas carcinoma|pancreatic adenosquamous cancer|pancreatic mucoepidermoid carcinoma|pancreatic mixed squamous and adenocarcinoma|PAASC	http://purl.obolibrary.org/obo/MONDO_0005614	DOID:5637|UMLS:C1335299|NCIT:C5721	
MONDO:0005617	biolink:Disease	undifferentiated carcinoma	A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation.	UMLS:C0205698|ICDO:8021/3|ICDO:8020/3|NCIT:C3692|EFO:0006772	mondo.json	carcinoma, undifferentiated|carcinoma, undifferentiated, malignant|anaplastic carcinoma|undifferentiated carcinoma	http://purl.obolibrary.org/obo/MONDO_0005617	UMLS:C0205698|NCIT:C3692	
MONDO:0005616	biolink:Disease	pulmonary mucoepidermoid carcinoma	A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells.	ONCOTREE:LUMEC|EFO:0006740|UMLS:C1708778|NCIT:C45544|DOID:0050932	mondo.json	lung mucoepidermoid carcinoma|mucoepidermoid carcinoma of the lung|lung mucoepidermoid cancer	http://purl.obolibrary.org/obo/MONDO_0005616	UMLS:C1708778|DOID:0050932|NCIT:C45544	
MONDO:0005611	biolink:Disease	bladder transitional cell carcinoma	The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival.	EFO:0006544|UMLS:C0279680|SCTID:255109008|ONCOTREE:BLCA|DOID:4006|NCIT:C39851	mondo.json	urinary bladder transitional cell carcinoma|bladder urothelial carcinoma|transitional cell carcinoma of the urinary bladder|bladder urothelial cancer|urinary bladder urothelial carcinoma|urothelial carcinoma of the urinary bladder|urothelial bladder carcinoma|BLCA|transitional cell carcinoma of bladder|bladder transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005611	NCIT:C39851|http://identifiers.org/snomedct/255109008|UMLS:C0279680|DOID:4006	
MONDO:0005610	biolink:Disease	Kashin-Beck disease	Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology.	ICD9:716.00|EFO:0006511|ICD9:716.08|MESH:D057767|ICD9:716.06|SCTID:270505009|UMLS:C2745963	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005610	http://identifiers.org/snomedct/270505009|UMLS:C2745963|http://identifiers.org/mesh/D057767	
UBERON:0002228	biolink:AnatomicalEntity	rib			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002228		
MONDO:0005613	biolink:Disease	mesonephric adenocarcinoma	An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants.	EFO:0006719|NCIT:C4072|ICDO:9110/3	mondo.json	malignant mesonephroma	http://purl.obolibrary.org/obo/MONDO_0005613	NCIT:C4072	
HGNC:29935	biolink:NamedThing	SPATA16			mondo.json		http://identifiers.org/hgnc/29935		
MONDO:0005612	biolink:Disease	obsolete ovarian leiomyosarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005612		
GO:0046579	biolink:NamedThing	positive regulation of Ras protein signal transduction	Any process that activates or increases the frequency, rate or extent of Ras protein signal transduction.		mondo.json	upregulation of Ras protein signal transduction|up-regulation of Ras protein signal transduction|up regulation of Ras protein signal transduction|activation of Ras protein signal transduction|stimulation of Ras protein signal transduction	http://purl.obolibrary.org/obo/GO_0046579		
GO:0046578	biolink:NamedThing	regulation of Ras protein signal transduction	Any process that modulates the frequency, rate or extent of Ras protein signal transduction.		mondo.json		http://purl.obolibrary.org/obo/GO_0046578		
UBERON:0016879	biolink:AnatomicalEntity	future central nervous system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016879		
HGNC:29932	biolink:NamedThing	COASY			mondo.json		http://identifiers.org/hgnc/29932		
CHEBI:33242	biolink:ChemicalSubstance	inorganic hydride			mondo.json	inorganic hydrides	http://purl.obolibrary.org/obo/CHEBI_33242		
CHEBI:33245	biolink:ChemicalSubstance	organic fundamental parent	An organic fundamental parent is a structure used as a basis for substitutive names in organic nomenclature, containing, in addition to one or more hydrogen atoms, a single atom of an element, a number of atoms (alike or different) linked together to form an unbranched chain, a monocyclic or polycyclic ring system, or a ring assembly or ring/chain system.		mondo.json	organic fundamental parents|organic parent hydrides	http://purl.obolibrary.org/obo/CHEBI_33245		
CHEBI:33246	biolink:ChemicalSubstance	inorganic group	Any substituent group which does not contain carbon.		mondo.json	inorganic groups	http://purl.obolibrary.org/obo/CHEBI_33246		
CHEBI:33247	biolink:ChemicalSubstance	organic group	Any substituent group or skeleton containing carbon.		mondo.json	organic groups	http://purl.obolibrary.org/obo/CHEBI_33247		
CHEBI:33249	biolink:ChemicalSubstance	organyl group	Any organic substituent group, regardless of functional type, having one free valence at a carbon atom.		mondo.json	organyl group|organyl groups|grupo organilo|grupos organilo|groupe organyle	http://purl.obolibrary.org/obo/CHEBI_33249		
UBERON:0002236	biolink:AnatomicalEntity	costal cartilage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002236		
UBERON:0002237	biolink:AnatomicalEntity	true rib			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002237		
MONDO:0005608	biolink:Disease	varicella zoster infection	A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox.	EFO:0006509|UMLS:C0586989|ICD9:052.7|SCTID:309465005|NCIT:C96407	mondo.json	varicella zoster infection|Varicella-zoster Virus infection	http://purl.obolibrary.org/obo/MONDO_0005608	http://identifiers.org/snomedct/309465005|UMLS:C0586989|NCIT:C96407	
UBERON:0004895	biolink:AnatomicalEntity	alveolar smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004895		
MONDO:0005607	biolink:Disease	chronic bronchitis	A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath.	EFO:0006505|SCTID:63480004|ICD9:491.8|ICD9:491.9|NCIT:C26722|ICD9:491|MESH:D029481|UMLS:C0008677	mondo.json	bronchitis, chronic	http://purl.obolibrary.org/obo/MONDO_0005607	http://identifiers.org/snomedct/63480004|UMLS:C0008677|http://identifiers.org/mesh/D029481|NCIT:C26722	
CHEBI:33240	biolink:ChemicalSubstance	coordination entity	An assembly consisting of a central atom (usually metallic) to which is attached a surrounding array of other groups of atoms (ligands).		mondo.json	coordination compounds|coordination entity|coordination entities	http://purl.obolibrary.org/obo/CHEBI_33240		
UBERON:0002234	biolink:AnatomicalEntity	proximal phalanx of manus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002234		
UBERON:0004893	biolink:AnatomicalEntity	interalveolar septum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004893		
MONDO:0005609	biolink:Disease	herpes zoster	A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area.	SCTID:4740000|MESH:D006562|DOID:8536|NCIT:C71079|EFO:0006510|ICD10CM:B02|UMLS:C0019360|ICD9:053	mondo.json	Zoster|postherpetic neuralgia|herpes zona|shingles|herpes Zoster	http://purl.obolibrary.org/obo/MONDO_0005609	http://purl.bioontology.org/ontology/ICD10CM/B02|UMLS:C0019360|http://identifiers.org/snomedct/4740000|http://identifiers.org/mesh/D006562|NCIT:C71079|DOID:8536	
CHEBI:33241	biolink:ChemicalSubstance	oxoacid derivative			mondo.json	oxoacid derivatives	http://purl.obolibrary.org/obo/CHEBI_33241		
UBERON:0004894	biolink:AnatomicalEntity	alveolar wall			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004894		
GO:0046580	biolink:NamedThing	negative regulation of Ras protein signal transduction	Any process that stops, prevents, or reduces the frequency, rate or extent of Ras protein signal transduction.		mondo.json	inhibition of Ras protein signal transduction|downregulation of Ras protein signal transduction|down-regulation of Ras protein signal transduction|down regulation of Ras protein signal transduction	http://purl.obolibrary.org/obo/GO_0046580		
UBERON:0002217	biolink:AnatomicalEntity	synovial joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002217		
CHEBI:47867	biolink:ChemicalSubstance	indicator	Anything used in a scientific experiment to indicate the presence of a substance or quality, change in a body, etc.		mondo.json	Indikator	http://purl.obolibrary.org/obo/CHEBI_47867		
CHEBI:47868	biolink:ChemicalSubstance	photosensitizing agent	A chemical compound that can be excited by light of a specific wavelength and subsequently transfer energy to a chosen reactant. This is commonly molecular oxygen within a cancer tissue, which is converted to (highly rective) singlet state oxygen. This rapidly reacts with any nearby biomolecules, ultimately killing the cancer cells.		mondo.json	photosensitising agent	http://purl.obolibrary.org/obo/CHEBI_47868		
HGNC:9009	biolink:NamedThing	PKD2			mondo.json		http://identifiers.org/hgnc/9009		
UBERON:0004880	biolink:AnatomicalEntity	chordamesoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004880		
HGNC:17928	biolink:NamedThing	PSMC3IP			mondo.json		http://identifiers.org/hgnc/17928		
HGNC:9008	biolink:NamedThing	PKD1			mondo.json		http://identifiers.org/hgnc/9008		
UBERON:0004888	biolink:AnatomicalEntity	right lung hilus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004888		
UBERON:0002224	biolink:AnatomicalEntity	thoracic cavity			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002224		
UBERON:0004889	biolink:AnatomicalEntity	lobar bronchus vasculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004889		
UBERON:0004886	biolink:AnatomicalEntity	lung hilus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004886		
UBERON:0004887	biolink:AnatomicalEntity	left lung hilus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004887		
UBERON:0004884	biolink:AnatomicalEntity	lobar bronchus mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004884		
HGNC:9005	biolink:NamedThing	PITX2			mondo.json		http://identifiers.org/hgnc/9005		
HGNC:9006	biolink:NamedThing	PITX3			mondo.json		http://identifiers.org/hgnc/9006		
UBERON:0004885	biolink:AnatomicalEntity	hilum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004885		
UBERON:0002223	biolink:AnatomicalEntity	endolymphatic sac			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002223		
UBERON:0004883	biolink:AnatomicalEntity	lung mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004883		
HGNC:9004	biolink:NamedThing	PITX1			mondo.json		http://identifiers.org/hgnc/9004		
HGNC:29918	biolink:NamedThing	NDUFAF3			mondo.json		http://identifiers.org/hgnc/29918		
UBERON:0002209	biolink:AnatomicalEntity	fibrous joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002209		
CHEBI:47857	biolink:ChemicalSubstance	ureas			mondo.json	urea derivatives	http://purl.obolibrary.org/obo/CHEBI_47857		
UBERON:0004869	biolink:AnatomicalEntity	parietal organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004869		
HGNC:29914	biolink:NamedThing	NUP107			mondo.json		http://identifiers.org/hgnc/29914		
RO:0004047	biolink:NamedThing	causally upstream of or within, positive effect			mondo.json		http://purl.obolibrary.org/obo/RO_0004047		
UBERON:0016855	biolink:AnatomicalEntity	ventral part of optic cup			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016855		
CHEBI:33229	biolink:ChemicalSubstance	vitamin (role)	A biochemical role played by any micronutrient that is an organic compound. Vitamins are present in foods in small amounts and are essential to normal metabolism and biochemical functions, usually as coenzymes. The term "vitamines" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines.		mondo.json	vitaminum|vitaminas|vitamine|vitamin|vitamins|vitamines|vitamina	http://purl.obolibrary.org/obo/CHEBI_33229		
RO:0004046	biolink:NamedThing	causally upstream of or within, negative effect			mondo.json		http://purl.obolibrary.org/obo/RO_0004046		
UBERON:0016854	biolink:AnatomicalEntity	dorsal part of optic cup			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016854		
UBERON:0016853	biolink:AnatomicalEntity	interdigital gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016853		
UBERON:0016852	biolink:AnatomicalEntity	skin scent gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016852		
HGNC:17935	biolink:NamedThing	CD207			mondo.json		http://identifiers.org/hgnc/17935		
UBERON:0002213	biolink:AnatomicalEntity	cartilaginous joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002213		
UBERON:0026246	biolink:AnatomicalEntity	sacral spinal cord white matter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0026246		
NCBITaxon:404429	biolink:OrganismalEntity	Echinostomatoidea		GC_ID:1	mondo.json	Fascioloidea|Cyclocoeloidea	http://purl.obolibrary.org/obo/NCBITaxon_404429		
UBERON:0002216	biolink:AnatomicalEntity	symphysis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002216		
UBERON:0004875	biolink:AnatomicalEntity	nephrogenic cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004875		
UBERON:0004876	biolink:AnatomicalEntity	urogenital fold			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004876		
UBERON:0002215	biolink:AnatomicalEntity	synchondrosis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002215		
UBERON:0004873	biolink:AnatomicalEntity	splanchnopleure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004873		
UBERON:0002210	biolink:AnatomicalEntity	syndesmosis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002210		
HGNC:9016	biolink:NamedThing	PKHD1			mondo.json		http://identifiers.org/hgnc/9016		
UBERON:0004874	biolink:AnatomicalEntity	somatopleure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004874		
UBERON:0004871	biolink:AnatomicalEntity	somatic layer of lateral plate mesoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004871		
CHEBI:35881	biolink:ChemicalSubstance	pnictogen hydride			mondo.json	pnictogen hydride|pnictogen hydrides	http://purl.obolibrary.org/obo/CHEBI_35881		
UBERON:0002211	biolink:AnatomicalEntity	nerve root			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002211		
UBERON:0004872	biolink:AnatomicalEntity	splanchnic layer of lateral plate mesoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004872		
MONDO:0005648	biolink:Disease	aortic valve insufficiency	Dysfunction of the aortic valve characterized by incomplete valve closure.	UMLS:C0155568|NCIT:C51223|EFO:0007148|ICD10CM:I06.1|ICD9:395.1|UMLS:C0003504|ICD9:396.3|MESH:D001022|DOID:57|SCTID:78031003	mondo.json	rheumatic aortic insufficiency|aortic insufficiency|aortic regurgitation|rheumatic aortic valve insufficiency|Corrigan's disease|rheumatic aortic valve regurgitation|rheumatic aortic regurgitation|aortic incompetence	http://purl.obolibrary.org/obo/MONDO_0005648	http://identifiers.org/snomedct/78031003|UMLS:C0155568|DOID:57|UMLS:C0003504|http://identifiers.org/mesh/D001022|NCIT:C51223|http://purl.bioontology.org/ontology/ICD10CM/I06.1	
MONDO:0005647	biolink:Disease	anogenital human papillomavirus infection	A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia.	EFO:0007147|ICD9:078.11|DOID:11168|SCTID:266113007|NCIT:C4820|MESH:D003218	mondo.json	anogenital Human papilloma Virus infectious disease|anogenital Warts|anogenital Human Papillomavirus infection|venereal wart|genital wart virus infectious disease|condyloma acuminatum|anogenital Human papilloma Virus infection|genital Warts|anogenital venereal wart	http://purl.obolibrary.org/obo/MONDO_0005647	http://identifiers.org/snomedct/266113007|DOID:11168|http://identifiers.org/mesh/D003218|NCIT:C4820	
RO:0004030	biolink:NamedThing	disease arises from structure	A relationship between a disease and an anatomical structure where the material basis of the disease is some pathological change in the structure. Anatomical structure includes cellular and sub-cellular entities, such as chromosome and organelles.	RO:0004030	mondo.json		http://purl.obolibrary.org/obo/RO_0004030		
MONDO:0005649	biolink:Disease	appendicitis	Acute inflammation of the vermiform appendix.	EFO:0007149|UMLS:C0003615|SCTID:74400008|ICD9:541|MESH:D001064|NCIT:C35145|ICD9:540-543.99|DOID:8337	mondo.json	inflammation of vermiform appendix|acute appendicitis|acute appendicitis with generalized peritonitis|vermiform appendix inflammation|acute appendicitis with peritoneal abscess	http://purl.obolibrary.org/obo/MONDO_0005649	DOID:8337|UMLS:C0003615|http://identifiers.org/mesh/D001064|http://identifiers.org/snomedct/74400008|NCIT:C35145	
MONDO:0005644	biolink:Disease	amebiasis	A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs.	NCIT:C84551|EFO:0007144|ICD9:006|ICD9:006.9|MESH:D000562|UMLS:C0002438|DOID:9181	mondo.json	chronic intestinal amebiasis|amoebiasis|entamoebiasis	http://purl.obolibrary.org/obo/MONDO_0005644	DOID:9181|NCIT:C84551|UMLS:C0002438|http://identifiers.org/mesh/D000562	
NCBITaxon:56210	biolink:OrganismalEntity	Calomys callosus		GC_ID:1	mondo.json	large vesper mouse	http://purl.obolibrary.org/obo/NCBITaxon_56210		
MONDO:0005643	biolink:Disease	Alphavirus infectious disease	Virus diseases caused by members of the alphavirus genus of the family togaviridae.	MESH:D018354|EFO:0007142|UMLS:C0206752	mondo.json	Alphavirus disease or disorder|Alphavirus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005643	http://identifiers.org/mesh/D018354|UMLS:C0206752	
HGNC:9020	biolink:NamedThing	PKLR			mondo.json		http://identifiers.org/hgnc/9020		
MONDO:0005646	biolink:Disease	obsolete anisakiasis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005646		
MONDO:0005645	biolink:Disease	ancylostomiasis	Infection by hookworms of the genus Ancylostoma.	ICD9:126.9|ICD10CM:B76.1|ICD9:126.8|EFO:0007145|DOID:12841|GARD:0009742|MedDRA:10020376|NCIT:C35805|MESH:D000724|UMLS:C0002831|Orphanet:78|MedDRA:10002255|SCTID:63479002	mondo.json	Ancylostoma duodenale infection|Ancylostoma infectious disease|Ancylostoma caused disease or disorder|hookworm infection|Ancylostoma disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005645	DOID:12841|http://identifiers.org/snomedct/63479002|Orphanet:78|UMLS:C0002831|NCIT:C35805|http://identifiers.org/mesh/D000724	ordo_disease
MONDO:0005640	biolink:Disease	akinetic mutism	A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67)	SCTID:53333005|MESH:D000405|DOID:4267|EFO:0007138|UMLS:C0001889	mondo.json	Coma vigilans (finding)|Coma vigilans	http://purl.obolibrary.org/obo/MONDO_0005640	http://identifiers.org/mesh/D000405|DOID:4267|UMLS:C0001889|http://identifiers.org/snomedct/53333005	
RO:0004035	biolink:NamedThing	acts upstream of, negative effect	c 'acts upstream of, negative effect' p if c is enables f, and f is causally upstream of p, and the direction of f is negative		mondo.json		http://purl.obolibrary.org/obo/RO_0004035		
MONDO:0005642	biolink:Disease	atopic conjunctivitis	Conjunctivitis due to hypersensitivity to various allergens.	HP:0007879|DOID:11204|EFO:0007141|SCTID:473460002|ICD9:372.14|UMLS:C0009766|NCIT:C34506	mondo.json	allergic form of conjunctivitis (disease)|Atopic conjunctivitis|allergic conjunctivitis (disease)|allergic conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0005642	DOID:11204|http://identifiers.org/snomedct/473460002|UMLS:C0009766|NCIT:C34506	
MONDO:0005641	biolink:Disease	aleutian mink disease	A slow progressive disease of mink caused by the aleutian mink disease virus. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible.	DOID:2934|SCTID:62251004|MESH:D000453|UMLS:C0002016|EFO:0007139|ICD9:079.89	mondo.json	Aleutian mink disease virus infectious disease|Aleutian mink disease virus caused disease or disorder|Aleutian disease|Aleutian mink disease virus disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005641	DOID:2934|UMLS:C0002016|http://identifiers.org/snomedct/62251004|http://identifiers.org/mesh/D000453	
RO:0004032	biolink:NamedThing	acts upstream of or within, positive effect			mondo.json		http://purl.obolibrary.org/obo/RO_0004032		
RO:0004031	biolink:NamedThing	enables subfunction	Holds between an entity and an process P where the entity enables some larger compound process, and that larger process has-part P.		mondo.json		http://purl.obolibrary.org/obo/RO_0004031		
RO:0004034	biolink:NamedThing	acts upstream of, positive effect	c 'acts upstream of, positive effect' p if c is enables f, and f is causally upstream of p, and the direction of f is positive		mondo.json		http://purl.obolibrary.org/obo/RO_0004034		
RO:0004033	biolink:NamedThing	acts upstream of or within, negative effect			mondo.json		http://purl.obolibrary.org/obo/RO_0004033		
MONDO:0017637	biolink:Disease	obsolete rare parkinsonian syndrome due to intoxication		UMLS:CN203533|Orphanet:306679	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017637	UMLS:CN203533|Orphanet:306679	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
UBERON:0002283	biolink:AnatomicalEntity	nail matrix			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002283		
MONDO:0017638	biolink:Disease	manganese poisoning	Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include confusion; hallucinations; and an extrapyramidal syndrome (parkinson disease, secondary) that includes rigidity; dystonia; retropulsion; and tremor. (Adams, Principles of Neurology, 6th ed, p1213)	MESH:D020149|Orphanet:306682|ICD9:503|SCTID:88687001|MedDRA:10058951|EFO:1001808	mondo.json	manganese intoxication|Manganism	http://purl.obolibrary.org/obo/MONDO_0017638	http://identifiers.org/mesh/D020149|http://identifiers.org/snomedct/88687001|Orphanet:306682	ordo_disease
MONDO:0017639	biolink:Disease	carbon monoxide-induced parkinsonism		UMLS:C0393565|Orphanet:306686|SCTID:230293003	mondo.json	CO-induced parkinsonism	http://purl.obolibrary.org/obo/MONDO_0017639	UMLS:C0393565|http://identifiers.org/snomedct/230293003|Orphanet:306686	ordo_disease
UBERON:0002285	biolink:AnatomicalEntity	telencephalic ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002285		
MONDO:0017633	biolink:Disease	obsolete rare intoxication due to medical products		UMLS:CN227165|Orphanet:306640	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017633	UMLS:CN227165|Orphanet:306640	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
RO:0004029	biolink:NamedThing	disease has feature	A relationship between a disease and some feature of that disease, where the feature is either a phenotype or an isolated disease.	RO:0004029	mondo.json		http://purl.obolibrary.org/obo/RO_0004029		
RO:0004028	biolink:NamedThing	realized in response to stimulus	A relationship between a realizable entity R (e.g. function or disposition) and a material entity M where R is realized in response to a process that has an input stimulus of M.	RO:0004028	mondo.json		http://purl.obolibrary.org/obo/RO_0004028		
MONDO:0017634	biolink:Disease	non-infectious anterior uveitis		SCTID:267619000|UMLS:C0339317|Orphanet:306648	mondo.json	non-infectious iridocyclitis	http://purl.obolibrary.org/obo/MONDO_0017634	http://identifiers.org/snomedct/267619000|Orphanet:306648|UMLS:C0339317	ordo_group_of_disorders|disease_grouping
MONDO:0017635	biolink:Disease	obsolete parkinsonian syndrome due to neurodegenerative disease		Orphanet:306666|UMLS:CN203530	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017635	UMLS:CN203530|Orphanet:306666	ordo_group_of_disorders
CHEBI:35856	biolink:ChemicalSubstance	lipoxygenase inhibitor	A compound or agent that combines with lipoxygenase and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of the icosanoid products hydroxyicosatetraenoic acid and various leukotrienes.		mondo.json	lipoxygenase inhibitors|lipooxygenase inhibitor	http://purl.obolibrary.org/obo/CHEBI_35856		
MONDO:0017636	biolink:Disease	hemiparkinsonism-hemiatrophy syndrome	Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated.	Orphanet:306669|UMLS:CN203531	mondo.json	Hp-HA syndrome	http://purl.obolibrary.org/obo/MONDO_0017636	UMLS:CN203531|Orphanet:306669	ordo_disease
NCBITaxon:8028	biolink:OrganismalEntity	Salmo		GC_ID:1	mondo.json	Salmothymus|Acantholingua	http://purl.obolibrary.org/obo/NCBITaxon_8028		
HGNC:9023	biolink:NamedThing	PKP1			mondo.json		http://identifiers.org/hgnc/9023		
MONDO:0017630	biolink:Disease	X-linked complicated spastic paraplegia type 1	An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain.	GARD:0012525|UMLS:CN203524|Orphanet:306617	mondo.json	SPG1	http://purl.obolibrary.org/obo/MONDO_0017630	UMLS:CN203524|Orphanet:306617	ordo_clinical_subtype
HGNC:9024	biolink:NamedThing	PKP2			mondo.json		http://identifiers.org/hgnc/9024		
MONDO:0017631	biolink:Disease	obsolete rare tumor of gallbladder and extrahepatic biliary tract		UMLS:C0750952|Orphanet:306633	mondo.json	rare tumor of gallbladder and EBT	http://purl.obolibrary.org/obo/MONDO_0017631	UMLS:C0750952|Orphanet:306633	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
NCBITaxon:56212	biolink:OrganismalEntity	Calomys musculinus		GC_ID:1	mondo.json	drylands vesper mouse	http://purl.obolibrary.org/obo/NCBITaxon_56212		
MONDO:0017632	biolink:Disease	obsolete rare tumor of liver and intrahepatic biliary tract	OBSOLETE. Any of the forms of liver and intrahepatic bile duct neoplasm that have a rare incidence.	UMLS:C0023903|Orphanet:306636	mondo.json	rare liver and intrahepatic bile duct neoplasm|rare tumor of liver and IBT	http://purl.obolibrary.org/obo/MONDO_0017632	Orphanet:306636	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
NCBITaxon:56211	biolink:OrganismalEntity	Calomys laucha		GC_ID:1	mondo.json	small vesper mouse	http://purl.obolibrary.org/obo/NCBITaxon_56211		
UBERON:0002286	biolink:AnatomicalEntity	third ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002286		
NCBITaxon:8022	biolink:OrganismalEntity	Oncorhynchus mykiss		GC_ID:1	mondo.json	rainbow trout|Oncorhynchus nerka mykiss|Salmo mykiss|Parasalmo mykiss	http://purl.obolibrary.org/obo/NCBITaxon_8022		
UBERON:0002288	biolink:AnatomicalEntity	choroid plexus of third ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002288		
MONDO:0005659	biolink:Disease	atrophic rhinitis	A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena).	UMLS:C0035459|EFO:0007159|UMLS:C0030105|MESH:D012222|SCTID:69646003|DOID:4731	mondo.json	ozena|rhinitis sicca|rhinitis, atrophic|dry rhinitis|Ozaena	http://purl.obolibrary.org/obo/MONDO_0005659	UMLS:C0035459|UMLS:C0030105|http://identifiers.org/mesh/D012222|DOID:4731|http://identifiers.org/snomedct/69646003	
MONDO:0005658	biolink:Disease	Astroviridae infectious disease	Infections with astrovirus, causing gastroenteritis in human infants, calves, lambs, and piglets.	EFO:0007158|MESH:D019350|UMLS:C0376550	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005658	UMLS:C0376550|http://identifiers.org/mesh/D019350	
MONDO:0005655	biolink:Disease	ascaridiasis	Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea.	MESH:D001198|ICD10CM:B77|EFO:0007155|SCTID:2435008|SCTID:76160002|DOID:3108|UMLS:C0003952	mondo.json	infection by Ascaridia|ascaridiosis|infection caused by Ascaridia|Ascaridia infectious disease|Ascaridia caused disease or disorder|Ascaridia disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005655	http://identifiers.org/snomedct/76160002|http://identifiers.org/mesh/D001198|UMLS:C0003952|DOID:3108	
MONDO:0005654	biolink:Disease	ascariasis	An infection that is caused by the roundworm Ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur.	UMLS:C0003950|DOID:456|NCIT:C128392|EFO:0007154|ICD10CM:B77|CSP:1248-7284|ICD9:127.0|SCTID:2435008|MESH:D001196	mondo.json	Ascaris lumbricoides infectious disease|Ascaris lumbricoides disease or disorder|Ascaris lumbricoides caused disease or disorder|ascariasis - roundworm|Ascaris lumbricoides infection	http://purl.obolibrary.org/obo/MONDO_0005654	UMLS:C0003950|http://identifiers.org/mesh/D001196|DOID:456|http://identifiers.org/snomedct/2435008|NCIT:C128392|http://purl.bioontology.org/ontology/ICD10CM/B77	
CHEBI:23888	biolink:ChemicalSubstance	drug	Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances.		mondo.json	medicine|drugs	http://purl.obolibrary.org/obo/CHEBI_23888		
MONDO:0005657	biolink:Disease	aspergillosis	Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas.	EFO:0007157|Orphanet:1163|DOID:13564|UMLS:C0004030|SCTID:65553006|NCIT:C2886|ICD10CM:B44|GARD:0005856|MedDRA:10003488|ICD9:117.3|CSP:1988-4002|MESH:D001228	mondo.json	infection due to Aspergillus	http://purl.obolibrary.org/obo/MONDO_0005657	UMLS:C0004030|http://identifiers.org/mesh/D001228|Orphanet:1163|NCIT:C2886|http://purl.bioontology.org/ontology/ICD10CM/B44|http://identifiers.org/snomedct/65553006|DOID:13564	ordo_disease|gard_rare
MONDO:0005656	biolink:Disease	Ascaridida infectious disease	Infections with nematodes of the order ascaridida.	EFO:0007156|MESH:D017191	mondo.json	Ascaridida caused disease or disorder|infection, Ascaridida|Ascaridida disease or disorder|infections, Ascaridida|Ascaridida infection	http://purl.obolibrary.org/obo/MONDO_0005656	http://identifiers.org/mesh/D017191	
MONDO:0005651	biolink:Disease	arenavirus hemorrhagic fever	A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus.	UMLS:C0153112|EFO:0007151|ICD9:078.7|SCTID:73730005	mondo.json	arenaviral hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0005651	UMLS:C0153112|http://identifiers.org/snomedct/73730005	
RO:0004025	biolink:NamedThing	disease causes dysfunction of		RO:0004025	mondo.json		http://purl.obolibrary.org/obo/RO_0004025		
MONDO:0005650	biolink:Disease	Arenaviridae infectious disease	Virus diseases caused by the arenaviridae.	DOID:3944|EFO:0007150|SCTID:3303004|MESH:D001117|ICD9:078.89	mondo.json	arenavirus infectious disease|Arenaviridae disease or disorder|infection, Arenaviridae|infection, arenavirus|Arenaviridae caused disease or disorder|infections, Arenaviridae|disease due to arenavirus|arenavirus infections|Arenaviridae infection|infections, arenavirus|disease caused by arenavirus|arenavirus infection	http://purl.obolibrary.org/obo/MONDO_0005650	http://identifiers.org/mesh/D001117|http://identifiers.org/snomedct/3303004|DOID:3944	
CHEBI:35868	biolink:ChemicalSubstance	hydroxy monocarboxylic acid	Any monocarboxylic acid which also contains a separate (alcoholic or phenolic) hydroxy substituent.		mondo.json	hydroxy monocarboxylic acids|hydroxy acid	http://purl.obolibrary.org/obo/CHEBI_35868		
RO:0004024	biolink:NamedThing	disease disrupts	A relationship between a disease and a process where the disease process disrupts the execution of the process.	RO:0004024	mondo.json		http://purl.obolibrary.org/obo/RO_0004024		
MONDO:0005653	biolink:Disease	obsolete asbestosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005653		
RO:0004027	biolink:NamedThing	disease has inflammation site	A relationship between a disease and an anatomical entity where the disease is triggered by an inflammatory response to stimuli occurring in the anatomical entity	RO:0004027	mondo.json		http://purl.obolibrary.org/obo/RO_0004027		
RO:0004026	biolink:NamedThing	disease has location	A relationship between a disease and an anatomical entity where the disease has one or more features that are located in that entity.	RO:0004026	mondo.json		http://purl.obolibrary.org/obo/RO_0004026		
MONDO:0005652	biolink:Disease	Arterivirus infectious disease	Infections caused by viruses of the family arteriviridae.	EFO:0007152|UMLS:C0206604|MESH:D018174	mondo.json	Arterivirus caused disease or disorder|Arterivirus disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005652	UMLS:C0206604|http://identifiers.org/mesh/D018174	
MONDO:0017619	biolink:Disease	congenital sucrase-isomaltase deficiency with minimal starch tolerance		Orphanet:306446	mondo.json	congenital sucrase-isomaltose malabsorption with minimal starch tolerance|congenital sucrose intolerance with minimal starch tolerance|disaccharide intolerance with minimal starch tolerance|CSID with minimal starch tolerance	http://purl.obolibrary.org/obo/MONDO_0017619	Orphanet:306446	ordo_clinical_subtype
RO:0004021	biolink:NamedThing	disease has basis in disruption of	A relation that holds between the disease and a process where the physical basis of the disease disrupts execution of a key biological process.	RO:0004021	mondo.json		http://purl.obolibrary.org/obo/RO_0004021		
RO:0004020	biolink:NamedThing	disease has basis in dysfunction of	A relation that holds between the disease and a material entity where the physical basis of the disease is a disorder of that material entity that affects its function.	RO:0004020	mondo.json		http://purl.obolibrary.org/obo/RO_0004020		
RO:0004023	biolink:NamedThing	causal relationship with disease as subject			mondo.json		http://purl.obolibrary.org/obo/RO_0004023		
RO:0004022	biolink:NamedThing	disease arises from feature	A relation that holds between the disease and a feature (a phenotype or other disease) where the physical basis of the disease is the feature.	RO:0004022	mondo.json		http://purl.obolibrary.org/obo/RO_0004022		
MONDO:0017626	biolink:Disease	familial primary hypomagnesemia with normocalcuria	Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type.	Orphanet:306522|UMLS:CN227164	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017626	UMLS:CN227164|Orphanet:306522	ordo_group_of_disorders|disease_grouping
NCBITaxon:8030	biolink:OrganismalEntity	Salmo salar		GC_ID:1	mondo.json	Atlantic salmon	http://purl.obolibrary.org/obo/NCBITaxon_8030		
MONDO:0017627	biolink:Disease	congenital hereditary facial paralysis-variable hearing loss syndrome	Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.	Orphanet:306530|SCTID:722389002	mondo.json	congenital hereditary facial paralysis-variable deafness syndrome|congenital hereditary facial palsy with variable hearing loss|congenital hereditary facial paralysis with variable deafness|congenital hereditary facial palsy with variable deafness	http://purl.obolibrary.org/obo/MONDO_0017627	Orphanet:306530|http://identifiers.org/snomedct/722389002	ordo_morphological_anomaly
MONDO:0017628	biolink:Disease	myospherulosis		UMLS:C0027123|SCTID:81139004|ICD9:136.8|Orphanet:306553	mondo.json	subcutaneous spherulocystic disease|spherulocytosis	http://purl.obolibrary.org/obo/MONDO_0017628	http://identifiers.org/snomedct/81139004|UMLS:C0027123|Orphanet:306553	ordo_disease
HP:0006705	biolink:PhenotypicFeature	Abnormal atrioventricular valve morphology	An abnormality of an atrioventricular valve.	UMLS:C4024995	mondo.json	Abnormality of the atrioventricular valves	http://purl.obolibrary.org/obo/HP_0006705		
MONDO:0017629	biolink:Disease	sodium channelopathy-related small fiber neuropathy		Orphanet:306577	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017629	Orphanet:306577	ordo_disease
MONDO:0017622	biolink:Disease	congenital sucrase-isomaltase deficiency without sucrose intolerance		Orphanet:306486	mondo.json	congenital sucrose-isomaltose malabsorption without sucrose intolerance|disaccharide intolerance without sucrose intolerance|CSID without sucrose intolerance	http://purl.obolibrary.org/obo/MONDO_0017622	Orphanet:306486	ordo_clinical_subtype
RO:0004018	biolink:NamedThing	is basis for realizable			mondo.json		http://purl.obolibrary.org/obo/RO_0004018		
RO:0004017	biolink:NamedThing	realizable has basis in			mondo.json		http://purl.obolibrary.org/obo/RO_0004017		
MONDO:0017623	biolink:Disease	PTEN hamartoma tumor syndrome	A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS.	SCTID:722859001|DOID:0080191|Orphanet:306498|UMLS:C1959582|GARD:0012800	mondo.json	PTEN hamartoma tumor syndrome|PHTS	http://purl.obolibrary.org/obo/MONDO_0017623	Orphanet:306498|DOID:0080191|http://identifiers.org/snomedct/722859001|UMLS:C1959582	gard_rare|ordo_group_of_disorders|clingen|disease_grouping
MONDO:0017624	biolink:Disease	familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN).	Orphanet:306516|GARD:0009891|UMLS:CN203511	mondo.json	FHHNC|Michellis-Castrillo syndrome	http://purl.obolibrary.org/obo/MONDO_0017624	UMLS:CN203511|Orphanet:306516	gard_rare|ordo_group_of_disorders|disease_grouping
UBERON:0002270	biolink:AnatomicalEntity	hyaloid artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002270		
MONDO:0017625	biolink:Disease	familial primary hypomagnesemia with hypocalcuria		SCTID:711151004|UMLS:CN227163|Orphanet:306519	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017625	UMLS:CN227163|Orphanet:306519|http://identifiers.org/snomedct/711151004	disease_grouping|ordo_group_of_disorders
RO:0004019	biolink:NamedThing	disease has basis in			mondo.json		http://purl.obolibrary.org/obo/RO_0004019		
CHEBI:59814	biolink:ChemicalSubstance	L-alpha-amino acid anion	Conjugate base of an L-alpha-amino acid arising from deprotonation of the C-1 carboxy group.		mondo.json	L-alpha-amino carboxylate	http://purl.obolibrary.org/obo/CHEBI_59814		
UBERON:0002279	biolink:AnatomicalEntity	vestibular aqueduct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002279		
MONDO:0017620	biolink:Disease	congenital sucrase-isomaltase deficiency without starch intolerance		Orphanet:306462	mondo.json	CSID without starch intolerance|disaccharide intolerance without starch intolerance|congenital sucrose intolerance without starch intolerance|congenital sucrase-isomaltose malabsorption without starch intolerance	http://purl.obolibrary.org/obo/MONDO_0017620	Orphanet:306462	ordo_clinical_subtype
MONDO:0017621	biolink:Disease	congenital sucrase-isomaltase deficiency with starch and lactose intolerance		Orphanet:306474	mondo.json	congenital sucrase-isomaltose malabsorption with starch and lactose intolerance|congenital sucrose intolerance with starch and lactose intolerance|disaccharide intolerance with starch and lactose intolerance|CSID with starch and lactose intolerance	http://purl.obolibrary.org/obo/MONDO_0017621	Orphanet:306474	ordo_clinical_subtype
HGNC:9038	biolink:NamedThing	PLA2G5			mondo.json		http://identifiers.org/hgnc/9038		
HGNC:9039	biolink:NamedThing	PLA2G6			mondo.json		http://identifiers.org/hgnc/9039		
UBERON:0002275	biolink:AnatomicalEntity	reticular formation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002275		
MONDO:0005626	biolink:Disease	epithelial neoplasm	A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas.	NCIT:C3709|MESH:D009375|SCTID:118285006|EFO:0006858	mondo.json	epithelioma|epithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0005626	http://identifiers.org/snomedct/118285006|NCIT:C3709|http://identifiers.org/mesh/D009375	
MONDO:0005625	biolink:Disease	cerebral malaria	A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures.	MESH:D016779|UMLS:C0024534|DOID:14069|NCIT:C128373|Wikipedia:Malaria|SCTID:53622003|EFO:0006857|ICD9:084.9	mondo.json	malarial encephalitis	http://purl.obolibrary.org/obo/MONDO_0005625	NCIT:C128373|UMLS:C0024534|http://identifiers.org/snomedct/53622003|http://identifiers.org/mesh/D016779|DOID:14069	
MONDO:0005628	biolink:Disease	male breast carcinoma	A malignant neoplasm involving the male breast.	SCTID:372095001|UMLS:C0238033|ICD9:175.9|NCIT:C3862|MESH:D018567|EFO:0006861|UMLS:C0242787|DOID:1614|UMLS:C0242788|GARD:0009312	mondo.json	carcinoma of the Male breast|carcinoma of Male breast|breast cancer in men|Male breast cancer|male breast cancer|Male breast carcinoma|neoplasm of male breast|malignant neoplasm of male breast|breast cancer, male|carcinoma of male breast|male breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0005628	http://identifiers.org/mesh/D018567|DOID:1614|http://identifiers.org/snomedct/372095001|UMLS:C0238033|NCIT:C3862|UMLS:C0242788|UMLS:C0242787	
MONDO:0005627	biolink:Disease	head and neck cancer	A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.	UMLS:C0278996|NCIT:C4013|DOID:11934|EFO:0006859	mondo.json	malignant head and neck tumor|malignant neoplasm of craniocervical region|head and neck malignant neoplasia|head and neck neoplasm|malignant tumor of the head and neck|craniocervical region cancer|head and neck tumours|malignant tumor of head and neck|cancer of the head and neck|malignant head and neck neoplasm|head/neck neoplasm|cancer of head and neck|malignant craniocervical region neoplasm|cancer of craniocervical region|head and neck cancer|malignant neoplasm of the head and neck|malignant neoplasm of head and neck	http://purl.obolibrary.org/obo/MONDO_0005627	UMLS:C0278996|NCIT:C4013|DOID:11934	
MONDO:0005622	biolink:Disease	obsolete vasculitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005622		
MONDO:0005621	biolink:Disease	vascular brain injury	Damage to the blood vessels of the brain	MESH:D020214|EFO:0006791	mondo.json	Vascular trauma, Brain|Vascular injury, Brain|Vascular Brain injury|Vascular Brain Injuries|Brain Vascular injury|Brain Vascular trauma|injury, Brain Vascular|Brain injury, Vascular|trauma, Brain Vascular|injury, Vascular Brain|injury, Vascular, Brain|trauma, cerebrovascular|Vascular Traumas, Brain	http://purl.obolibrary.org/obo/MONDO_0005621	http://identifiers.org/mesh/D020214	
MONDO:0005624	biolink:Disease	atrophic thyroiditis	Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter.	UMLS:C0238183|EFO:0006813|SCTID:83664006	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005624	http://identifiers.org/snomedct/83664006|UMLS:C0238183	
MONDO:0005623	biolink:Disease	autoimmune thyroid disease	Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis.	MESH:D013967|Wikipedia:Autoimmune_thyroiditis|EFO:0006812|GARD:0006945	mondo.json	autoimmune thyroid gland inflammation|thyroiditides, lymphocytic|thyroiditis, lymphocytic|thyroiditis, lymphomatous|thyroiditides, lymphomatous|thyroiditides, autoimmune|lymphomatous thyroiditis|lymphomatous thyroiditides|autoimmune thyroiditis|lymphocytic thyroiditis|autoimmune thyroiditides|lymphocytic thyroiditides	http://purl.obolibrary.org/obo/MONDO_0005623	http://identifiers.org/mesh/D013967	
HGNC:9040	biolink:NamedThing	PLA2G7			mondo.json		http://identifiers.org/hgnc/9040		
RO:0004014	biolink:NamedThing	is causal somatic mutation in	Relates a gene to condition, such that a mutation in this gene is sufficient to produce the condition but that cannot be passed on to offspring[modified from orphanet].		mondo.json		http://purl.obolibrary.org/obo/RO_0004014		
RO:0004013	biolink:NamedThing	is causal germline mutation in	Relates a gene to condition, such that a mutation in this gene is sufficient to produce the condition and that can be passed on to offspring[modified from orphanet].		mondo.json		http://purl.obolibrary.org/obo/RO_0004013		
MONDO:0005620	biolink:Disease	cerebral amyloid angiopathy	Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.	ICD10EXP:E85.4+|NCIT:C84625|EFO:0006790|DOID:9246|ICD10EXP:I68.0*|ICD9:277.39|SCTID:230724001|ICD10CM:I68.0|Orphanet:85458|MESH:D016657|GARD:0010266	mondo.json	CAA, familial|dutch hereditary cerebral amyloid angiopathy|HCHWA|hereditary cerebral haemorrhage with amyloidosis - Dutch type|cerebral amyloid angiopathy, genetic|cerebral amyloid angiopathy, familial	http://purl.obolibrary.org/obo/MONDO_0005620	DOID:9246|http://purl.bioontology.org/ontology/ICD10CM/I68.0|http://identifiers.org/snomedct/230724001|NCIT:C84625|http://identifiers.org/mesh/D016657|Orphanet:85458	ordo_disease
MONDO:0017608	biolink:Disease	obsolete dystrophic epidermolysis bullosa			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017608		
RO:0004010	biolink:NamedThing	is genetic basis for condition			mondo.json		http://purl.obolibrary.org/obo/RO_0004010		
MONDO:0017609	biolink:Disease	renal tubular dysgenesis	Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner.	GARD:0000379|Orphanet:3033|SCTID:702397002	mondo.json	primitive renal tubule syndrome|renotubular dysgenesis	http://purl.obolibrary.org/obo/MONDO_0017609	http://identifiers.org/snomedct/702397002|Orphanet:3033	ordo_malformation_syndrome
RO:0004011	biolink:NamedThing	is causal gain of function germline mutation of in	Relates a gene to condition, such that a mutation in this gene in a germ cell provides a new function of the corresponding product and that is sufficient to produce the condition and that can be passed on to offspring[modified from orphanet].		mondo.json		http://purl.obolibrary.org/obo/RO_0004011		
MONDO:0017615	biolink:Disease	benign familial infantile epilepsy	Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.	DOID:0060169|OMIMPS:601764|SCTID:230410004|ICD9:V17.2|UMLS:CN203492|GARD:0000857|Orphanet:306	mondo.json	BFIC|BFIS|BFIE|benign familial infantile convulsion|benign familial infantile convulsions|benign familial infantile seizures|seizures, benign familial infantile	http://purl.obolibrary.org/obo/MONDO_0017615	DOID:0060169|http://identifiers.org/snomedct/230410004|https://omim.org/phenotypicSeries/PS601764|UMLS:CN203492|Orphanet:306	gard_rare|clingen|ordo_disease
MONDO:0017616	biolink:Disease	X-linked intellectual disability, Schutz type		Orphanet:3062	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017616	Orphanet:3062	ordo_disease
MONDO:0017617	biolink:Disease	acquired adult-onset immunodeficiency	A acquired immunodeficiency that occurs in an adult.	GARD:0011992|Orphanet:306431	mondo.json	adult-onset immunodeficiency with acquired Anti-interferon-gamma autoantibodies|adult onset immunodeficiency syndrome|adult-onset immunodeficiency due to anti-interferon-gamma autoantibody|adult-onset immunodeficiency with anti-interferon-gamma autoantibodies|acquired immunodeficiency of adults|anti-IFN-gamma autoantibody syndrome|adult acquired immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0017617	Orphanet:306431	ordo_disease
MONDO:0017618	biolink:Disease	congenital sucrase-isomaltase deficiency with starch intolerance		Orphanet:306436	mondo.json	congenital sucrase-isomaltose malabsorption with starch intolerance|disaccharide intolerance with starch intolerance|congenital sucrose intolerance with starch intolerance|CSID with starch intolerance	http://purl.obolibrary.org/obo/MONDO_0017618	Orphanet:306436	ordo_clinical_subtype
MONDO:0017611	biolink:Disease	pituitary tumor	A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland.	ICD9:239.7|UMLS:C0032019|Orphanet:304055|SCTID:127024001|NCIT:C3330	mondo.json	pituitary gland neoplasm|pituitary tumor|tumor of the pituitary gland|neoplasm of pituitary gland|pituitary gland tumor|tumor of the pituitary|tumor of pituitary|neoplasm of the pituitary gland|tumor of pituitary gland|neoplasm of the pituitary|pituitary neoplasm|neoplasm of pituitary	http://purl.obolibrary.org/obo/MONDO_0017611	http://identifiers.org/snomedct/127024001|UMLS:C0032019|NCIT:C3330|Orphanet:304055	ordo_group_of_disorders|disease_grouping
MONDO:0017612	biolink:Disease	junctional epidermolysis bullosa	Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.	Orphanet:305|SCTID:79855003|OMIMPS:226650|NCIT:C90598|GARD:0002152|UMLS:C0079301|DOID:3209|MESH:D016109	mondo.json	EBJ|epidermolysis bullosa hereditaria letalis|epidermolysis bullosa, junctional|JEB|epidermolysis bullosa atrophicans|junctional epidermolysis bullosa|congenital junctional epidermolysis bullosa	http://purl.obolibrary.org/obo/MONDO_0017612	DOID:3209|NCIT:C90598|http://identifiers.org/mesh/D016109|http://identifiers.org/snomedct/79855003|https://omim.org/phenotypicSeries/PS226650|Orphanet:305|UMLS:C0079301	gard_rare|ordo_group_of_disorders|disease_grouping
MONDO:0017613	biolink:Disease	intellectual disability-hypotonia-skin hyperpigmentation syndrome		GARD:0003441|Orphanet:3050	mondo.json	Medrano Roldan syndrome|Medrano-Roldan syndrome	http://purl.obolibrary.org/obo/MONDO_0017613		ordo_disease|gard_rare
NCBITaxon:44281	biolink:OrganismalEntity	Pneumocystidaceae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_44281		
MONDO:0017614	biolink:Disease	X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome	X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.	UMLS:C0796264|Orphanet:3055|MESH:C536715|GARD:0000345	mondo.json	X-linked intellectual disability - short stature – obesity|Sex-linked mental retardation, short stature, obesity and hypogonadism|Sex-linked intellectual disability, short stature, obesity and hypogonadism|Young-Hughes syndrome	http://purl.obolibrary.org/obo/MONDO_0017614	http://identifiers.org/mesh/C536715|Orphanet:3055|UMLS:C0796264	ordo_malformation_syndrome
NCBITaxon:8006	biolink:OrganismalEntity	Salmoniformes		GC_ID:1	mondo.json	salmons and trouts	http://purl.obolibrary.org/obo/NCBITaxon_8006		
HGNC:9045	biolink:NamedThing	PLAG1			mondo.json		http://identifiers.org/hgnc/9045		
HGNC:9046	biolink:NamedThing	PLAGL1			mondo.json		http://identifiers.org/hgnc/9046		
UBERON:0002268	biolink:AnatomicalEntity	olfactory organ			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002268		
MONDO:0017610	biolink:Disease	epidermolysis bullosa simplex	Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.	Orphanet:304|ICD9:757.39|ICD10CM:Q81.0|NCIT:C84692|UMLS:C0079298|MESH:D016110|OMIMPS:131760|GARD:0010752|SCTID:67144006|DOID:4644	mondo.json	epidermolysis bullosa intraepidermic|epidermolysis bullosa simplex|EBS|EEB	http://purl.obolibrary.org/obo/MONDO_0017610	http://identifiers.org/snomedct/67144006|http://purl.bioontology.org/ontology/ICD10CM/Q81.0|http://identifiers.org/mesh/D016110|https://omim.org/phenotypicSeries/PS131760|NCIT:C84692|Orphanet:304|UMLS:C0079298|DOID:4644	ordo_group_of_disorders|disease_grouping|gard_rare
MONDO:0005619	biolink:Disease	typhoid fever	A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics.	MESH:D014435|EFO:0006789|Orphanet:99745|DOID:13258|NCIT:C35089|UMLS:C0041466|ICD9:002.0|SCTID:4834000|GARD:0009564	mondo.json	typhoid|typhoid fever|typhoidal salmonellosis	http://purl.obolibrary.org/obo/MONDO_0005619	NCIT:C35089|http://identifiers.org/mesh/D014435|http://identifiers.org/snomedct/4834000|Orphanet:99745|UMLS:C0041466|DOID:13258	ordo_disease
UBERON:0002265	biolink:AnatomicalEntity	olfactory tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002265		
MONDO:0005618	biolink:Disease	anxiety disorder	A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety.	ICD9:300.09|EFO:0006788|DOID:2030|MESH:D001008|NCIT:C2878|SCTID:197480006	mondo.json	anxiety state|anxiety|anxiety disorder	http://purl.obolibrary.org/obo/MONDO_0005618	NCIT:C2878|http://identifiers.org/snomedct/197480006|DOID:2030|http://identifiers.org/mesh/D001008	
UBERON:0002264	biolink:AnatomicalEntity	olfactory bulb			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002264		
MONDO:0005637	biolink:Disease	obsolete adult-onset Still disease			mondo.json	obsolete adult-onset Still's disease	http://purl.obolibrary.org/obo/MONDO_0005637		
MONDO:0005636	biolink:Disease	adenosarcoma	A low grade malignant neoplasm characterized by the presence of a benign epithelial component (tubular and cleft-like glands) and a low grade sarcomatous component that contains varying amounts of fibrous and smooth muscle tissues. In a minority of cases, the sarcomatous component contains heterologous elements including striated muscle, cartilage, and fat. It occurs in the uterine corpus, ovary, fallopian tube, cervix, and vagina. It may recur and in a minority of cases may metastasize to distant anatomic sites.	UMLS:C0001442|NCIT:C9474|ICDO:8933/3|EFO:0007134|MESH:D018195|DOID:1974	mondo.json	adenosarcoma (morphologic abnormality)|Müllerian adenosarcoma|mullerian adenosarcoma|adenosarcoma|Mullerian adenosarcoma	http://purl.obolibrary.org/obo/MONDO_0005636	http://identifiers.org/mesh/D018195|DOID:1974|UMLS:C0001442|NCIT:C9474	
MONDO:0005639	biolink:Disease	AIDS related complex	A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating aids-related complex (ARC) from aids include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in aids; follicular or mixed hyperplasia in arc lymph nodes, leading to lymphocyte degeneration and depletion more typical of aids; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown aids.	EFO:0007137|UMLS:C0001857|MESH:D000386	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005639	UMLS:C0001857|http://identifiers.org/mesh/D000386	
MONDO:0005638	biolink:Disease	agnosia	A rare disorder characterized by the lack of ability to recognize individuals, objects, shapes, sounds, or smells. There is no loss of memory. It is caused by neurological damage in the brain, specifically in the occipital or parietal lobes.	NCIT:C84542|ICD10CM:R48.2|MESH:D001072|EFO:0007136|SCTID:68345001|GARD:0000008|MESH:D000377|ICD10CM:R48.1|DOID:4090	mondo.json	primary visual agnosia|dyspraxia (finding)|Monomodal visual amnesia|dyspraxia syndrome|agnosia|visual amnesia	http://purl.obolibrary.org/obo/MONDO_0005638	http://identifiers.org/snomedct/68345001|http://purl.bioontology.org/ontology/ICD10CM/R48.1|NCIT:C84542|http://identifiers.org/mesh/D000377|DOID:4090	gard_rare
MONDO:0005633	biolink:Disease	obsolete acute disseminated encephalomyelitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005633		
HGNC:9052	biolink:NamedThing	PLAU			mondo.json		http://identifiers.org/hgnc/9052		
MONDO:0005632	biolink:Disease	acute chest syndrome	A vaso-occlusive crisis of the pulmonary vasculature occurring in patients with sickle cell disease. It is characterized by the presence of a new radiodensity on a chest radiograph accompanied by fever, cough, sputum production, dyspnea, or hypoxia.	ICD9:517.3|MESH:D056586|DOID:1584|UMLS:C0742343|SCTID:372146004|NCIT:C138179|EFO:0007129	mondo.json	ACS|acute chest syndrome in sickle cell disease	http://purl.obolibrary.org/obo/MONDO_0005632	NCIT:C138179|http://identifiers.org/snomedct/372146004|DOID:1584|UMLS:C0742343|http://identifiers.org/mesh/D056586	
CHEBI:47811	biolink:ChemicalSubstance	penamcarboxylate			mondo.json	penamcarboxylates	http://purl.obolibrary.org/obo/CHEBI_47811		
MONDO:0005635	biolink:Disease	adenomyoma	A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus and the cervix. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy.	MESH:D018194|DOID:2609|EFO:0007133|ICDO:8932/0|NCIT:C3726|UMLS:C0206622	mondo.json	adenomyoma, benign|adenomyoma (morphologic abnormality)|adenomyoma	http://purl.obolibrary.org/obo/MONDO_0005635	UMLS:C0206622|http://identifiers.org/mesh/D018194|DOID:2609|NCIT:C3726	
MONDO:0005634	biolink:Disease	acute hemorrhagic conjunctivitis	Acute conjunctivitis that is characterized by bleeding into the conjunctiva.	MESH:D003232|NCIT:C34505|ICD9:077.4|DOID:11227|SCTID:398264003|EFO:0007131|UMLS:C0009765	mondo.json	epidemic hemorrhagic conjunctivitis|Apollo disease|viral conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0005634	DOID:11227|http://identifiers.org/snomedct/398264003|http://identifiers.org/mesh/D003232|NCIT:C34505|UMLS:C0009765	
HGNC:9051	biolink:NamedThing	PLAT			mondo.json		http://identifiers.org/hgnc/9051		
RO:0004003	biolink:NamedThing	has material basis in germline mutation in		RO:0004003	mondo.json		http://purl.obolibrary.org/obo/RO_0004003		
MONDO:0005631	biolink:Disease	actinomycosis	Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious.	ICD9:039|ICD9:039.9|SCTID:11817007|MESH:D000196|GARD:0005728|Orphanet:457095|UMLS:C0001261|DOID:8478|NCIT:C34350|EFO:0007128	mondo.json	Keratoactinomycosis|boil|infections, Actinomyces|Actinomyces israeli|actinomycotic madura foot|actinomycotic mycetoma of foot|actinomycotic mycetema|Actinomyces infection|canaliculitis|actinomycetoma|anaerobic Actinomyces infection|Madura foot due to Actinomadura|Actinomycetes	http://purl.obolibrary.org/obo/MONDO_0005631	Orphanet:457095|DOID:8478|UMLS:C0001261|http://identifiers.org/mesh/D000196|NCIT:C34350	gard_rare|ordo_disease
MONDO:0005630	biolink:Disease	actinobacillosis	A disease characterized by suppurative and granulomatous lesions in the respiratory tract, upper alimentary tract, skin, kidneys, joints, and other tissues. Actinobacillus lignieresii infects cattle and sheep while A. equuli infects horses and pigs.	UMLS:C0001247|SCTID:16140007|MESH:D000187|DOID:4974|EFO:0007127	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005630	http://identifiers.org/snomedct/16140007|UMLS:C0001247|http://identifiers.org/mesh/D000187|DOID:4974	
RO:0004004	biolink:NamedThing	has material basis in somatic mutation in			mondo.json		http://purl.obolibrary.org/obo/RO_0004004		
RO:0004001	biolink:NamedThing	has material basis in gain of function germline mutation in			mondo.json		http://purl.obolibrary.org/obo/RO_0004001		
UBERON:0016896	biolink:AnatomicalEntity	periosteum of long bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016896		
RO:0004000	biolink:NamedThing	condition has genetic basis in			mondo.json		http://purl.obolibrary.org/obo/RO_0004000		
MONDO:0017604	biolink:Disease	marginal zone lymphoma	A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood.	GARD:0013237|UMLS:C1367654|SCTID:447100004|ONCOTREE:MZL|DOID:0050748|NCIT:C4341|Orphanet:300912|ICDO:9699/3|EFO:1000630	mondo.json	lymphoma of marginal zone B cell|marginal zone B-cell lymphoma|MZL|MZBCL|marginal zone lymphoma|marginal zone B cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0017604	http://identifiers.org/snomedct/447100004|DOID:0050748|UMLS:C1367654|NCIT:C4341|Orphanet:300912	disease_grouping|ordo_group_of_disorders
MONDO:0017605	biolink:Disease	obsolete ependymal tumor			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017605		
MONDO:0017606	biolink:Disease	obsolete facial nerve palsy due to herpes zoster infection			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017606		
MONDO:0017607	biolink:Disease	caudal regression sequence	Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.	MedDRA:10068896|Orphanet:3027|GARD:0006007|UMLS:C1838568|MedDRA:10059387|NCIT:C124505|UMLS:C1867774|MedDRA:10054842	mondo.json	sacral agenesis syndrome|caudal dysplasia|sacral regression syndrome	http://purl.obolibrary.org/obo/MONDO_0017607	UMLS:C1838568|UMLS:C1867774|NCIT:C124505|Orphanet:3027	ordo_malformation_syndrome
MONDO:0017600	biolink:Disease	hairy cell leukemia variant	Hairy Cell Leukemia variant (HCL-V) is defined as a rare and indolent form of small, mature, B-cell leukemia characterized by splenomegaly, an elevated white blood cell (WBC) count and hyper-cellular bone marrow. HCL-V is more aggressive and resistant to therapy than classical HCL (HCL-C).	DOID:713|ICDO:9591/3|UMLS:C0349633|NCIT:C7401|SCTID:277568007|MedDRA:10019054|Orphanet:300878	mondo.json	hairy cell leukaemia variant|prolymphocytic variant of hairy cell leukemia|leukemic reticuloendotheliosis variant|HCL-v|prolymphocytic variant of HCL|HCL-V|hairy cell leukemia variant	http://purl.obolibrary.org/obo/MONDO_0017600	DOID:713|NCIT:C7401|UMLS:C0349633|Orphanet:300878|http://identifiers.org/snomedct/277568007	ordo_disease
MONDO:0017601	biolink:Disease	diffuse large B-cell lymphoma with chronic inflammation	Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs.	Orphanet:300888	mondo.json	DLBCL with chronic inflammation	http://purl.obolibrary.org/obo/MONDO_0017601	Orphanet:300888	ordo_disease
CHEBI:35842	biolink:ChemicalSubstance	antirheumatic drug	A drug used to treat rheumatoid arthritis.		mondo.json	anti-rheumatic drugs|antirheumatic agent|antirheumatic drugs	http://purl.obolibrary.org/obo/CHEBI_35842		
MONDO:0017602	biolink:Disease	ALK-positive anaplastic large cell lymphoma	ALK-positive anaplastic large cell lymphoma (ALK+ ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK).	Orphanet:300895|ICDO:9714/3|NCIT:C37193|UMLS:C1332079	mondo.json	anaplastic large cell lymphoma, ALK-positive|ALK-positive anaplastic large cell lymphoma|ALK+ ALCL|ALCL, ALK+|ALKoma|ALK+ anaplastic large cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0017602	Orphanet:300895|NCIT:C37193|UMLS:C1332079	ordo_histopathological_subtype
MONDO:0017603	biolink:Disease	ALK-negative anaplastic large cell lymphoma	ALK-negative anaplastic large cell lymphoma (ALK- ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK).	UMLS:C1332078|ICDO:9702/3|EFO:1000083|NCIT:C37194|Orphanet:300903	mondo.json	ALK-negative anaplastic large cell lymphoma|ALK- ALCL|ALK- anaplastic large cell lymphoma|ALCL, ALK-|anaplastic large cell lymphoma, ALK-negative	http://purl.obolibrary.org/obo/MONDO_0017603	Orphanet:300903|NCIT:C37194|UMLS:C1332078	ordo_histopathological_subtype
UBERON:0002257	biolink:AnatomicalEntity	ventral horn of spinal cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002257		
NCBITaxon:8016	biolink:OrganismalEntity	Oncorhynchus		GC_ID:1	mondo.json	Parasalmo	http://purl.obolibrary.org/obo/NCBITaxon_8016		
NCBITaxon:8015	biolink:OrganismalEntity	Salmonidae		GC_ID:1|PMID:15062801	mondo.json	salmonids	http://purl.obolibrary.org/obo/NCBITaxon_8015		
MONDO:0005629	biolink:Disease	Acanthamoeba keratitis	Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear.	GARD:0009285|ICD9:370.8|SCTID:231896005|ICD10EXP:H19.2*|EFO:0007126|MedDRA:10069408|NCIT:C50450|MESH:D015823|Orphanet:67043|UMLS:C0000880|ICD10EXP:B60.1+	mondo.json	keratitis, Acanthamoeba|Acanthamoeba caused keratitis	http://purl.obolibrary.org/obo/MONDO_0005629	NCIT:C50450|Orphanet:67043|UMLS:C0000880|http://identifiers.org/snomedct/231896005|http://identifiers.org/mesh/D015823	ordo_disease|gard_rare
HGNC:9059	biolink:NamedThing	PLCB4			mondo.json		http://identifiers.org/hgnc/9059		
HGNC:877	biolink:NamedThing	ALDH7A1			mondo.json		http://identifiers.org/hgnc/877		
UBERON:0004938	biolink:AnatomicalEntity	submucosa of biliary tree			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004938		
UBERON:0004939	biolink:AnatomicalEntity	submucosa of common bile duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004939		
UBERON:0004936	biolink:AnatomicalEntity	submucosa of pyloric antrum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004936		
UBERON:0004937	biolink:AnatomicalEntity	submucosa of pylorus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004937		
UBERON:0004934	biolink:AnatomicalEntity	submucosa of body of stomach			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004934		
UBERON:0004935	biolink:AnatomicalEntity	submucosa of cardia of stomach			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004935		
HGNC:870	biolink:NamedThing	ATP7B			mondo.json		http://identifiers.org/hgnc/870		
GO:0007113	biolink:NamedThing	endomitotic cell cycle	A mitotic cell cycle in which chromosomes are replicated and sister chromatids separate, but spindle formation, nuclear membrane breakdown and nuclear division do not occur, resulting in an increased number of chromosomes in the cell.		mondo.json	endomitosis	http://purl.obolibrary.org/obo/GO_0007113		
GO:0010769	biolink:NamedThing	regulation of cell morphogenesis involved in differentiation	Any process that modulates the frequency, rate or extent of cell morphogenesis contributing to cell differentiation. Cell morphogenesis involved in differentiation is the change in form (cell shape and size) that occurs when relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history.		mondo.json		http://purl.obolibrary.org/obo/GO_0010769		
NBO:0000181	biolink:NamedThing	long-term memory	"This type of memory, lasting hours to months, critically depends on a transfer of the information from short term memory using repeated rehearsal." [NBO:GVG]		mondo.json		http://purl.obolibrary.org/obo/NBO_0000181		
UBERON:0004943	biolink:AnatomicalEntity	submucosa of urinary bladder			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004943		
UBERON:0004944	biolink:AnatomicalEntity	submucosa of trigone of urinary bladder			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004944		
UBERON:0004941	biolink:AnatomicalEntity	submucosa of right hepatic duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004941		
UBERON:0004942	biolink:AnatomicalEntity	submucosa of left hepatic duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004942		
UBERON:0004940	biolink:AnatomicalEntity	submucosa of common hepatic duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004940		
NBO:0000185	biolink:NamedThing	declarative memory	"Ability to become conscious of, or declare, facts and experiences." [NBO:GVG]		mondo.json	explicit memory	http://purl.obolibrary.org/obo/NBO_0000185		
HGNC:869	biolink:NamedThing	ATP7A			mondo.json		http://identifiers.org/hgnc/869		
HGNC:868	biolink:NamedThing	ATP6AP1			mondo.json		http://identifiers.org/hgnc/868		
UBERON:0004929	biolink:AnatomicalEntity	submucosa of ascending colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004929		
HGNC:888	biolink:NamedThing	KIF1A			mondo.json		http://identifiers.org/hgnc/888		
UBERON:0004927	biolink:AnatomicalEntity	submucosa of cecum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004927		
HGNC:886	biolink:NamedThing	ATRX			mondo.json		http://identifiers.org/hgnc/886		
UBERON:0004928	biolink:AnatomicalEntity	submucosa of appendix			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004928		
UBERON:0004925	biolink:AnatomicalEntity	submucosa of laryngopharynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004925		
UBERON:0004926	biolink:AnatomicalEntity	submucosa of cystic duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004926		
UBERON:0004923	biolink:AnatomicalEntity	organ component layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004923		
HGNC:882	biolink:NamedThing	ATR			mondo.json		http://identifiers.org/hgnc/882		
UBERON:0004924	biolink:AnatomicalEntity	submucosa of pharynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004924		
GO:0009790	biolink:NamedThing	embryo development	The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant.		mondo.json	embryogenesis|embryogenesis and morphogenesis|embryonal development	http://purl.obolibrary.org/obo/GO_0009790		
GO:0009791	biolink:NamedThing	post-embryonic development	The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development.		mondo.json		http://purl.obolibrary.org/obo/GO_0009791		
GO:0010770	biolink:NamedThing	positive regulation of cell morphogenesis involved in differentiation	Any process that increases the frequency, rate or extent of cell morphogenesis contributing to cell differentiation. Cell morphogenesis involved in differentiation is the change in form (cell shape and size) that occurs when relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history.		mondo.json		http://purl.obolibrary.org/obo/GO_0010770		
GO:0010771	biolink:NamedThing	negative regulation of cell morphogenesis involved in differentiation	Any process that decreases the frequency, rate or extent of cell morphogenesis contributing to cell differentiation. Cell morphogenesis involved in differentiation is the change in form (cell shape and size) that occurs when relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history.		mondo.json		http://purl.obolibrary.org/obo/GO_0010771		
UBERON:0004932	biolink:AnatomicalEntity	submucosa of sigmoid colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004932		
UBERON:0004933	biolink:AnatomicalEntity	submucosa of fundus of stomach			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004933		
UBERON:0004930	biolink:AnatomicalEntity	submucosa of transverse colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004930		
UBERON:0004931	biolink:AnatomicalEntity	submucosa of descending colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004931		
UBERON:0004919	biolink:AnatomicalEntity	external urethral sphincter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004919		
HGNC:854	biolink:NamedThing	ATP6V1B2			mondo.json		http://identifiers.org/hgnc/854		
UBERON:0004916	biolink:AnatomicalEntity	anal sphincter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004916		
HGNC:853	biolink:NamedThing	ATP6V1B1			mondo.json		http://identifiers.org/hgnc/853		
UBERON:0004917	biolink:AnatomicalEntity	urethral sphincter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004917		
UBERON:0004914	biolink:AnatomicalEntity	duodenal papilla			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004914		
UBERON:0004915	biolink:AnatomicalEntity	sphincter of hepatopancreatic ampulla			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004915		
UBERON:0004912	biolink:AnatomicalEntity	biliary bud			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004912		
UBERON:0004913	biolink:AnatomicalEntity	hepatopancreatic ampulla			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004913		
GO:0071708	biolink:NamedThing	immunoglobulin light chain V-J recombination	The process in which immunoglobulin light chain V and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS).		mondo.json	immunoglobulin V(D)J recombination|immunoglobulin V(D)J joining|immunoglobulin V-J joining	http://purl.obolibrary.org/obo/GO_0071708		
GO:0071707	biolink:NamedThing	immunoglobulin heavy chain V-D-J recombination	The process in which immunoglobulin heavy chain V, D, and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS).		mondo.json	immunoglobulin V(D)J recombination|immunoglobulin V-D-J joining|immunoglobulin V(D)J joining	http://purl.obolibrary.org/obo/GO_0071707		
GO:0071705	biolink:NamedThing	nitrogen compound transport	The directed movement of nitrogen-containing compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0071705		
GO:0071704	biolink:NamedThing	organic substance metabolic process	The chemical reactions and pathways involving an organic substance, any molecular entity containing carbon.		mondo.json	organic molecular entity metabolism|organic substance metabolism|organic molecular entity metabolic process	http://purl.obolibrary.org/obo/GO_0071704		
GO:0009755	biolink:NamedThing	hormone-mediated signaling pathway	The series of molecular signals mediated by the detection of a hormone.		mondo.json	hormone mediated signalling	http://purl.obolibrary.org/obo/GO_0009755		
GO:0071702	biolink:NamedThing	organic substance transport	The directed movement of organic substances into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or pore. An organic substance is a molecular entity that contains carbon.		mondo.json		http://purl.obolibrary.org/obo/GO_0071702		
UBERON:0004921	biolink:AnatomicalEntity	subdivision of digestive tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004921		
UBERON:0004907	biolink:AnatomicalEntity	lower digestive tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004907		
UBERON:0004908	biolink:AnatomicalEntity	upper digestive tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004908		
HGNC:866	biolink:NamedThing	ATP6V0A4			mondo.json		http://identifiers.org/hgnc/866		
UBERON:0004905	biolink:AnatomicalEntity	articulation			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004905		
UBERON:0004906	biolink:AnatomicalEntity	ectodermal part of digestive tract			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004906		
UBERON:0004904	biolink:AnatomicalEntity	neuron projection bundle connecting eye with brain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004904		
UBERON:0004901	biolink:AnatomicalEntity	right lung lobar bronchus mesenchyme			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004901		
UBERON:0004902	biolink:AnatomicalEntity	urogenital sinus epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004902		
UBERON:0004909	biolink:AnatomicalEntity	epithelium of gonad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004909		
NBO:0000170	biolink:NamedThing	memory behavior	"Behavior related with the ability of an organism's ability to store, retain, and recall information and experiences." [NBO:GVG]		mondo.json	memory behaviour	http://purl.obolibrary.org/obo/NBO_0000170		
UBERON:0004910	biolink:AnatomicalEntity	epithelium of male gonad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004910		
UBERON:0004911	biolink:AnatomicalEntity	epithelium of female gonad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004911		
CL:2000070	biolink:Cell	optic choroid fibroblast	Any fibroblast that is part of a optic choroid.		mondo.json		http://purl.obolibrary.org/obo/CL_2000070		
CL:2000072	biolink:Cell	adipose microvascular endothelial cell	Any microvascular endothelial cell that is part of a adipose tissue.		mondo.json		http://purl.obolibrary.org/obo/CL_2000072		
CL:2000071	biolink:Cell	mammary microvascular endothelial cell	Any microvascular endothelial cell that is part of a breast.		mondo.json		http://purl.obolibrary.org/obo/CL_2000071		
UBERON:0002316	biolink:AnatomicalEntity	white matter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002316		
UBERON:0002318	biolink:AnatomicalEntity	white matter of spinal cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002318		
CL:2000078	biolink:Cell	placental pericyte	Any pericyte cell that is part of a placenta.		mondo.json		http://purl.obolibrary.org/obo/CL_2000078		
GO:0010721	biolink:NamedThing	negative regulation of cell development	Any process that decreases the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate.		mondo.json		http://purl.obolibrary.org/obo/GO_0010721		
CL:2000079	biolink:Cell	mesenchymal stem cell of femoral bone marrow	Any mesenchymal stem cell of the bone marrow that is part of a femur.		mondo.json		http://purl.obolibrary.org/obo/CL_2000079		
CL:2000074	biolink:Cell	splenocyte	Any leukocyte that is part of a spleen.		mondo.json		http://purl.obolibrary.org/obo/CL_2000074		
CL:2000073	biolink:Cell	migratory cardiac neural crest cell	Any migratory neural crest cell that is part of a cardiac neural crest.		mondo.json		http://purl.obolibrary.org/obo/CL_2000073		
CL:2000076	biolink:Cell	hindlimb stylopod vein endothelial cell	Any vein endothelial cell that is part of a hindlimb stylopod.		mondo.json		http://purl.obolibrary.org/obo/CL_2000076		
UBERON:0004980	biolink:AnatomicalEntity	mucosa of ureter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004980		
GO:0044108	biolink:NamedThing	cellular alcohol biosynthetic process	The chemical reactions and pathways resulting in the formation of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom, carried out at the level of an individual cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0044108		
GO:0010720	biolink:NamedThing	positive regulation of cell development	Any process that increases the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate.		mondo.json		http://purl.obolibrary.org/obo/GO_0010720		
GO:0044106	biolink:NamedThing	cellular amine metabolic process	The chemical reactions and pathways involving any organic compound that is weakly basic in character and contains an amino or a substituted amino group, as carried out by individual cells. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom.		mondo.json		http://purl.obolibrary.org/obo/GO_0044106		
GO:0044107	biolink:NamedThing	cellular alcohol metabolic process	The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom, as carried out by individual cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0044107		
UBERON:0002324	biolink:AnatomicalEntity	muscle of back			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002324		
UBERON:0004987	biolink:AnatomicalEntity	mucosa of laryngopharynx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004987		
UBERON:0004988	biolink:AnatomicalEntity	mucosa of cystic duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004988		
UBERON:0002323	biolink:AnatomicalEntity	coelemic cavity lumen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002323		
UBERON:0002326	biolink:AnatomicalEntity	lamina propria of urethra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002326		
UBERON:0004985	biolink:AnatomicalEntity	mucosa of ejaculatory duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004985		
UBERON:0004986	biolink:AnatomicalEntity	mucosa of deferent duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004986		
UBERON:0002325	biolink:AnatomicalEntity	epithelium of urethra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002325		
UBERON:0004983	biolink:AnatomicalEntity	mucosa of vagina			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004983		
UBERON:0004984	biolink:AnatomicalEntity	mucosa of seminal vesicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004984		
UBERON:0004982	biolink:AnatomicalEntity	mucosa of epiglottis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004982		
CL:2000061	biolink:Cell	placental amniotic mesenchymal stromal cell	Any mesenchymal stem cell that is part of a placenta.		mondo.json		http://purl.obolibrary.org/obo/CL_2000061		
CL:2000060	biolink:Cell	placental villous trophoblast	A trophoblast of placental villi.  These cells fuse to form synctial  trophoplast - the placental side of the interface between the placenta and maternal blood sinusoids in the decidua.	BTO:0006208|BTO:0006119	mondo.json	vCTB|villous cytotrophoblast	http://purl.obolibrary.org/obo/CL_2000060		
UBERON:0002305	biolink:AnatomicalEntity	layer of hippocampus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002305		
UBERON:0002308	biolink:AnatomicalEntity	nucleus of brain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002308		
UBERON:0002307	biolink:AnatomicalEntity	choroid plexus of lateral ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002307		
CL:2000067	biolink:Cell	cardiac atrium fibroblast	Any fibroblast that is part of a cardiac atrium.		mondo.json		http://purl.obolibrary.org/obo/CL_2000067		
CL:2000066	biolink:Cell	cardiac ventricle fibroblast	Any fibroblast that is part of a cardiac ventricle.		mondo.json		http://purl.obolibrary.org/obo/CL_2000066		
CL:2000069	biolink:Cell	gallbladder fibroblast	Any fibroblast that is part of a gallbladder.		mondo.json		http://purl.obolibrary.org/obo/CL_2000069		
CL:2000068	biolink:Cell	pericardium fibroblast	Any fibroblast that is part of a pericardium.		mondo.json		http://purl.obolibrary.org/obo/CL_2000068		
CL:2000063	biolink:Cell	ovarian fibroblast	Any fibroblast that is part of a female gonad.		mondo.json		http://purl.obolibrary.org/obo/CL_2000063		
GO:0044111	biolink:NamedThing	formation of structure involved in a symbiotic process	The progression of an organism from an initial condition to a later condition, occurring when the organism is in a symbiotic interaction.		mondo.json	development of symbiont during interaction with host|development on or near surface of other organism involved in symbiotic interaction|development involved in symbiotic interaction|development during symbiotic interaction|development on or near surface of other organism during symbiotic interaction|development of symbiont involved in interaction with host	http://purl.obolibrary.org/obo/GO_0044111		
CL:2000062	biolink:Cell	placental villus capillary endothelial cell	Any capillary endothelial cell that is part of a placenta.		mondo.json		http://purl.obolibrary.org/obo/CL_2000062		
CL:2000065	biolink:Cell	ovarian microvascular endothelial cell	Any microvascular endothelial cell that is part of a female urethra.		mondo.json		http://purl.obolibrary.org/obo/CL_2000065		
CL:2000064	biolink:Cell	ovarian surface epithelial cell	Any epithelial cell that is part of a female gonad.		mondo.json		http://purl.obolibrary.org/obo/CL_2000064		
GO:0009743	biolink:NamedThing	response to carbohydrate	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus.		mondo.json	response to carbohydrate stimulus	http://purl.obolibrary.org/obo/GO_0009743		
GO:0009746	biolink:NamedThing	response to hexose	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus.		mondo.json	response to hexose stimulus	http://purl.obolibrary.org/obo/GO_0009746		
UBERON:0002315	biolink:AnatomicalEntity	gray matter of spinal cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002315		
GO:0009749	biolink:NamedThing	response to glucose	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus.		mondo.json	response to glucose stimulus	http://purl.obolibrary.org/obo/GO_0009749		
HGNC:838	biolink:NamedThing	ATP5F1E			mondo.json		http://identifiers.org/hgnc/838		
CL:2000092	biolink:Cell	hair follicular keratinocyte	Any keratinocyte that is part of a hair follicle.		mondo.json		http://purl.obolibrary.org/obo/CL_2000092		
HGNC:812	biolink:NamedThing	ATP2A2			mondo.json		http://identifiers.org/hgnc/812		
CL:2000091	biolink:Cell	endometrial microvascular endothelial cells	Any microvascular endothelial cell that is part of a endometrial blood vessel.		mondo.json		http://purl.obolibrary.org/obo/CL_2000091		
HGNC:811	biolink:NamedThing	ATP2A1			mondo.json		http://identifiers.org/hgnc/811		
CL:2000093	biolink:Cell	bronchus fibroblast of lung	Any fibroblast of lung that is part of a bronchus.		mondo.json		http://purl.obolibrary.org/obo/CL_2000093		
FOODON:03411433	biolink:NamedThing	shellfish	The term shellfish is used both broadly and specifically. For regulatory purposes it is often narrowly defined as filter-feeding molluscs such as clams, mussels, and oyster to the exclusion of crustaceans and all else. Although their shells may differ, all shellfish are invertebrates.		mondo.json		http://purl.obolibrary.org/obo/FOODON_03411433		
CHEBI:47788	biolink:ChemicalSubstance	3-oxo steroid	Any oxo steroid where an oxo substituent is located at position 3.		mondo.json	3-oxosteroids|3-Oxosteroid|a 3-oxosteroid|3-oxo steroids	http://purl.obolibrary.org/obo/CHEBI_47788		
GO:0010701	biolink:NamedThing	positive regulation of norepinephrine secretion	Any process that increases the frequency, rate or extent of the regulated release of norepinephrine.		mondo.json		http://purl.obolibrary.org/obo/GO_0010701		
GO:0010700	biolink:NamedThing	negative regulation of norepinephrine secretion	Any process that decreases the frequency, rate or extent of the regulated release of norepinephrine.		mondo.json		http://purl.obolibrary.org/obo/GO_0010700		
CL:2000095	biolink:Cell	cord blood hematopoietic stem cell	Any hematopoietic stem cell that is part of a umbilical cord blood.		mondo.json		http://purl.obolibrary.org/obo/CL_2000095		
GO:0009712	biolink:NamedThing	catechol-containing compound metabolic process	The chemical reactions and pathways involving a compound containing a pyrocatechol (1,2-benzenediol) nucleus or substituent.		mondo.json	catechol metabolic process|catechol metabolism	http://purl.obolibrary.org/obo/GO_0009712		
UBERON:0002302	biolink:AnatomicalEntity	myocardium of atrium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002302		
GO:0071745	biolink:NamedThing	IgA immunoglobulin complex	A protein complex composed of two identical immunoglobulin heavy chains of the IgA isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and sometimes complexed with J chain or J chain and secretory component. An IgA immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph.		mondo.json	IgA1 antibody|IgA2 antibody	http://purl.obolibrary.org/obo/GO_0071745		
GO:0009713	biolink:NamedThing	catechol-containing compound biosynthetic process	The chemical reactions and pathways resulting in the formation of catechol-containing compounds. Catechol is a compound containing a pyrocatechol nucleus or substituent.		mondo.json	catechol formation|catechol biosynthesis|catechol biosynthetic process|catechol anabolism|catechol synthesis	http://purl.obolibrary.org/obo/GO_0009713		
UBERON:0002301	biolink:AnatomicalEntity	layer of neocortex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002301		
UBERON:0002304	biolink:AnatomicalEntity	layer of dentate gyrus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002304		
GO:0071742	biolink:NamedThing	IgE immunoglobulin complex	A protein complex composed of two identical immunoglobulin heavy chains of the IgE isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgE immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph.		mondo.json		http://purl.obolibrary.org/obo/GO_0071742		
HGNC:804	biolink:NamedThing	ATP1B1			mondo.json		http://identifiers.org/hgnc/804		
GO:0009719	biolink:NamedThing	response to endogenous stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism.		mondo.json		http://purl.obolibrary.org/obo/GO_0009719		
CL:2000081	biolink:Cell	melanocyte of skin of face	Any melanocyte of skin that is part of a skin of face.		mondo.json		http://purl.obolibrary.org/obo/CL_2000081		
HGNC:823	biolink:NamedThing	ATP5F1A			mondo.json		http://identifiers.org/hgnc/823		
CL:2000080	biolink:Cell	mesenchymal stem cell of abdominal adipose tissue	Any mesenchymal stem cell of adipose tissue that is part of an abdomen.		mondo.json	mesenchymal stem cell of abdominal adipose	http://purl.obolibrary.org/obo/CL_2000080		
UBERON:0004949	biolink:AnatomicalEntity	submucosa of main bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004949		
CL:2000082	biolink:Cell	melanocyte of foreskin	Any melanocyte of skin that is part of a skin of prepuce of penis.		mondo.json		http://purl.obolibrary.org/obo/CL_2000082		
UBERON:0004947	biolink:AnatomicalEntity	submucosa of right main bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004947		
UBERON:0004948	biolink:AnatomicalEntity	submucosa of left main bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004948		
UBERON:0004945	biolink:AnatomicalEntity	submucosa of neck of urinary bladder			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004945		
UBERON:0004946	biolink:AnatomicalEntity	submucosa of ileum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004946		
CL:2000089	biolink:Cell	dentate gyrus of hippocampal formation granule cell	The principal cell type of the dentate gyrus.		mondo.json		http://purl.obolibrary.org/obo/CL_2000089		
CL:2000088	biolink:Cell	Ammon's horn basket cell	Any basket cell that is part of a Ammon's horn.		mondo.json		http://purl.obolibrary.org/obo/CL_2000088		
CL:2000085	biolink:Cell	mononuclear cell of umbilical cord	Any mononuclear cell that is part of a umbilical cord.		mondo.json		http://purl.obolibrary.org/obo/CL_2000085		
CL:2000084	biolink:Cell	conjunctiva goblet cell	Any goblet cell that is part of a conjunctiva.		mondo.json		http://purl.obolibrary.org/obo/CL_2000084		
CL:2000087	biolink:Cell	dentate gyrus of hippocampal formation basket cell	Any basket cell that is part of a dentate gyrus of hippocampal formation.		mondo.json		http://purl.obolibrary.org/obo/CL_2000087		
CL:2000086	biolink:Cell	neocortex basket cell	Any basket cell that is part of a neocortex.		mondo.json		http://purl.obolibrary.org/obo/CL_2000086		
NCBITaxon:142786	biolink:OrganismalEntity	Norovirus		GC_ID:1	mondo.json	Norwalk-like viruses	http://purl.obolibrary.org/obo/NCBITaxon_142786		
UBERON:0016928	biolink:AnatomicalEntity	metaphysis of fibula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016928		
GO:0071738	biolink:NamedThing	IgD immunoglobulin complex	A protein complex composed of two identical immunoglobulin heavy chains of the IgD isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgD immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph.		mondo.json		http://purl.obolibrary.org/obo/GO_0071738		
GO:0071735	biolink:NamedThing	IgG immunoglobulin complex	A protein complex composed of two identical immunoglobulin heavy chains of an IgG isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgG immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph.		mondo.json	IgG4|IgG3|IgG2c|IgG2|IgG2b|IgG1|IgG2a	http://purl.obolibrary.org/obo/GO_0071735		
GO:0009725	biolink:NamedThing	response to hormone	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus.		mondo.json	response to hormone stimulus|growth regulator	http://purl.obolibrary.org/obo/GO_0009725		
UBERON:0004952	biolink:AnatomicalEntity	submucosa of bronchiole			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004952		
UBERON:0004950	biolink:AnatomicalEntity	submucosa of lobar bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004950		
HGNC:815	biolink:NamedThing	ATP2B2			mondo.json		http://identifiers.org/hgnc/815		
UBERON:0004951	biolink:AnatomicalEntity	submucosa of segmental bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004951		
GO:0019184	biolink:NamedThing	nonribosomal peptide biosynthetic process	The biosynthetic process in which peptide bond formation occurs in the absence of the translational machinery. Examples include the synthesis of antibiotic peptides, and glutathione.		mondo.json	nonribosomal peptide anabolism|non-ribosomal peptide biosynthesis|non-ribosomal peptide biosynthetic process|nonribosomal peptide biosynthesis|nonribosomal peptide synthesis|non-ribosomal peptide synthesis|nonribosomal peptide formation|non-ribosomal peptide formation|nonribosomal peptide synthetase	http://purl.obolibrary.org/obo/GO_0019184		
MONDO:0030489	biolink:Disease	epidermolysis bullosa simplex 2A, generalized severe		OMIM:619555	mondo.json	EBS2A	http://purl.obolibrary.org/obo/MONDO_0030489	https://omim.org/entry/619555	
MONDO:0030491	biolink:Disease	immunodeficiency 91 and hyperinflammation	An autosomal recessive immunodeficiency caused by a variation in the ZNFX1 gene, characterized by severe infections by both RNA and DNA viruses and virally triggered inflammatory episodes with hemophagocytic lymphohistiocytosis-like disease, early-onset seizures, and renal and lung disease.	OMIM:619644	mondo.json	immunodeficiency, autosomal recessive, due to ZNFX1 deficiency:|IMD91	http://purl.obolibrary.org/obo/MONDO_0030491	https://omim.org/entry/619644	
MONDO:0030490	biolink:Disease	oocyte maturation defect 11		OMIM:619643	mondo.json	OOMD11	http://purl.obolibrary.org/obo/MONDO_0030490	https://omim.org/entry/619643	
MONDO:0030498	biolink:Disease	immunodeficiency 92	An autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. Hematopoietic stem cell transplantation may be curative.	OMIM:619652	mondo.json	immunodeficiency due to REL deficiency|IMD92	http://purl.obolibrary.org/obo/MONDO_0030498	https://omim.org/entry/619652	
OBO:ECTO_0000231	biolink:NamedThing	exposure to chemical	An exposure to chemical entity.		mondo.json	exposure to chemical entity	http://purl.obolibrary.org/obo/ECTO_0000231		
MONDO:0030493	biolink:Disease	spermatogenic failure 60		OMIM:619646	mondo.json	SPGF60	http://purl.obolibrary.org/obo/MONDO_0030493	https://omim.org/entry/619646	
MONDO:0030492	biolink:Disease	spermatogenic failure 59		OMIM:619645	mondo.json	SPGF59	http://purl.obolibrary.org/obo/MONDO_0030492	https://omim.org/entry/619645	
MONDO:0042486	biolink:Disease	polyposis syndrome, hereditary mixed, 1		DOID:0111685|OMIM:601228	mondo.json	colorectal cancer, susceptibility to, on chromosome 15|colorectal cancer, susceptibility to, 4|polyposis syndrome, hereditary mixed 1|HMPS1|chromosome 15Q13-q14 Duplication syndrome, 40-Kb|colorectal adenoma and carcinoma 1|polyposis syndrome, hereditary mixed, 1	http://purl.obolibrary.org/obo/MONDO_0042486	DOID:0111685|https://omim.org/entry/601228	predisposition
MONDO:0042487	biolink:Disease	uterine cervix carcinoma in situ	Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003	NCIT:C4000|SCTID:254889004|DOID:8991|MESH:D018290|UMLS:C0851140|ICD9:233.1	mondo.json	carcinoma in situ of the uterine cervix aJCC v6|intraepithelial neoplasia of the uterine cervix grade 3 aJCC v6|FIGO stage 0 cervical carcinoma|FIGO stage 0 carcinoma of the uterine cervix|grade 3 cervical intraepithelial neoplasia aJCC v6|stage 0 uterine cervix carcinoma|severe dysplasia of cervix|uterine cervix Severe dysplasia aJCC v6|carcinoma in situ of uterine cervix|severe dysplasia of cervix aJCC v6|cervix intraepithelial neoplasia grade 3 aJCC v6|cervix uteri Severe dysplasia aJCC v6|cervix carcinoma in situ aJCC v6|severe dysplasia of the cervix aJCC v6|cervical intraepithelial neoplasia grade III with severe dysplasia|FIGO stage 0 cervix carcinoma|cervix uteri intraepithelial neoplasia grade 3 aJCC v6|stage 0 cervical cancer aJCC v6|cervix Severe dysplasia aJCC v6|severe dysplasia of cervix uteri aJCC v6|cervical cancer stage 0 aJCC v6|cervix uteri carcinoma in situ aJCC v6|CIN grade 3 aJCC v6|uterine cervix carcinoma in situ aJCC v6|severe dysplasia of uterine cervix aJCC v6|CIN III|severe dysplasia of the cervix uteri aJCC v6|uterine cervix intraepithelial neoplasia grade 3 aJCC v6|severe dysplasia of the uterine cervix aJCC v6|FIGO stage 0 cervix uteri carcinoma|carcinoma in situ of cervix|FIGO stage 0 uterine cervix carcinoma|CIN III - severe dyskaryosis|FIGO stage 0 carcinoma of cervix|carcinoma in situ of cervix aJCC v6|cervix uteri carcinoma in situ|intraepithelial neoplasia of cervix grade 3 aJCC v6|CIN III - carcinoma in situ of cervix|FIGO stage 0 carcinoma of the cervix|carcinoma in situ of the cervix aJCC v6|intraepithelial neoplasia of the cervix grade 3 aJCC v6|cervical Severe dysplasia aJCC v6|carcinoma of cervix stage 0|intraepithelial neoplasia of cervix uteri grade 3 aJCC v6|stage 0 cervical cancer|FIGO stage 0 carcinoma of cervix uteri|cervix Ca in situ|carcinoma in situ of cervix uteri aJCC v6|squamous intraepithelial neoplasia, grade III|cervical carcinoma in situ aJCC v6|cervical intraepithelial neoplasia grade 3 aJCC v6|intraepithelial neoplasia of the cervix uteri grade 3 aJCC v6|carcinoma in situ of the cervix uteri aJCC v6|FIGO stage 0 carcinoma of the cervix uteri|FIGO stage 0 carcinoma of uterine cervix|CIN 3 aJCC v6|severe cervical dysplasia aJCC v6|intraepithelial neoplasia of uterine cervix grade 3 aJCC v6|carcinoma in situ of uterine cervix aJCC v6	http://purl.obolibrary.org/obo/MONDO_0042487	http://identifiers.org/mesh/D018290|UMLS:C0851140|NCIT:C4000|DOID:8991|http://identifiers.org/snomedct/254889004	
MONDO:0042488	biolink:Disease	Cestode infectious disease	Infections with true tapeworms of the helminth subclass Cestoda.	EFO:1001287|MESH:D002590|SCTID:86133004|ICD9:123.9|ICD9:123.8	mondo.json	Coenuriasis|Raillietiniasis|Cestoda infectious disease|Dipylidiases|Cenuriases|Cestoda caused disease or disorder|cestode infestation|Cestodiasis|Dipylidiasis|Cenuriasis|infection, tapeworm|tapeworm infections|infections, cestode|infections, tapeworm|tapeworm infection|Bertielliases|Coenuriases|Cestoda disease or disorder|Raillietiniases|Cestodosis|infection, cestode|cestode infection|disease due to Cestoda|Bertielliasis	http://purl.obolibrary.org/obo/MONDO_0042488	http://identifiers.org/snomedct/86133004|http://identifiers.org/mesh/D002590	
MONDO:0042489	biolink:Disease	disease susceptibility	A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases.	MESH:D004198	mondo.json	susceptibilities, disease|disease susceptibilities|susceptibility, disease|diatheses|diathesis	http://purl.obolibrary.org/obo/MONDO_0042489	http://identifiers.org/mesh/D004198	predisposition
MONDO:0042484	biolink:Disease	disseminated sporotrichosis		UMLS:C0276725|SCTID:91051003	mondo.json	disseminated sporotrichosis	http://purl.obolibrary.org/obo/MONDO_0042484	UMLS:C0276725|http://identifiers.org/snomedct/91051003	
MONDO:0042485	biolink:Disease	infective arthritis	The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint.	GARD:0006781|NCIT:C26700	mondo.json	infective arthritis|septic arthritis	http://purl.obolibrary.org/obo/MONDO_0042485	NCIT:C26700	
GO:0032147	biolink:NamedThing	activation of protein kinase activity	Any process that initiates the activity of an inactive protein kinase.		mondo.json	protein kinase activation	http://purl.obolibrary.org/obo/GO_0032147		
MONDO:0042490	biolink:Disease	neutropenia, severe congenital, 1, autosomal dominant		MESH:C565969|DOID:0080625|OMIM:202700	mondo.json	neutropenia, severe congenital 1, autosomal dominant|SCN1|neutropenia, severe congenital, 1, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0042490	https://omim.org/entry/202700|DOID:0080625|http://identifiers.org/mesh/C565969	
MONDO:0017490	biolink:Disease	tibial hemimelia, unilateral		UMLS:CN203228|Orphanet:295077	mondo.json	tibial longitudinal meromelia, unilateral	http://purl.obolibrary.org/obo/MONDO_0017490	Orphanet:295077|UMLS:CN203228	ordo_clinical_subtype
OBO:ECTO_0000207	biolink:NamedThing	exposure to carbon monoxide	An exposure to carbon monoxide.		mondo.json	exposure to carbon monoxide	http://purl.obolibrary.org/obo/ECTO_0000207		
MONDO:0017491	biolink:Disease	tibial hemimelia, bilateral		UMLS:CN203229|Orphanet:295079	mondo.json	tibial longitudinal meromelia, bilateral	http://purl.obolibrary.org/obo/MONDO_0017491	Orphanet:295079|UMLS:CN203229	ordo_clinical_subtype
MONDO:0042491	biolink:Disease	cervical squamous intraepithelial neoplasia	A neoplastic process that affects the squamous epithelium of the cervix. It is classified as cervical squamous intraepithelial neoplasia 1, 2, or 3, according to the degree of squamous cell maturation and cellular atypia, and the number of mitotic figures.	MESH:D065310|NCIT:C7346	mondo.json	CIN|cervix uteri squamous intraepithelial lesion|uterine cervix squamous intraepithelial lesion|squamous intraepithelial lesion of cervix|cervix uteri sil|squamous intraepithelial lesion of the cervix|uterine cervix sil|squamous intraepithelial lesion of cervix uteri|cervical squamous intraepithelial lesion|cervical squamous intraepithelial neoplasia|squamous intraepithelial lesion of the cervix uteri|squamous intraepithelial lesion of uterine cervix|squamous intraepithelial lesion of the uterine cervix|cervical sil|cervix squamous intraepithelial lesion	http://purl.obolibrary.org/obo/MONDO_0042491	http://identifiers.org/mesh/D065310|NCIT:C7346	
MONDO:0017492	biolink:Disease	fibular hemimelia, unilateral		Orphanet:295081	mondo.json	fibular longitudinal meromelia, unilateral	http://purl.obolibrary.org/obo/MONDO_0017492	Orphanet:295081	ordo_clinical_subtype
MONDO:0042492	biolink:Disease				mondo.json		http://purl.obolibrary.org/obo/MONDO_0042492		
MONDO:0042497	biolink:Disease	mycotoxicosis	Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin).	SCTID:26033009|MESH:D015651	mondo.json	poisoning, fungus|Poisonings, fungus|Fungi poisoning|fungus Poisonings|Mycotoxicoses|fungus poisoning|Fungi caused poisoning	http://purl.obolibrary.org/obo/MONDO_0042497	http://identifiers.org/snomedct/26033009|http://identifiers.org/mesh/D015651	
MONDO:0042498	biolink:Disease	Ruzicka-Goerz-Anton syndrome		GARD:0000210|UMLS:C2931438|MESH:C537192	mondo.json	ichthyosis congenita, neurosensory deafness, oligophrenia, dental aplasia, brachydactyly, clinodactyly, accessory cervical ribs and thyroid carcinoma|ichthyosis deafness intellectual disability skeletal anomalies|ichthyosis deafness mental retardation skeletal anomalies|Ruzicka Goerz Anton syndrome	http://purl.obolibrary.org/obo/MONDO_0042498	UMLS:C2931438|http://identifiers.org/mesh/C537192	gard_rare
CHEBI:140499	biolink:ChemicalSubstance	kaolinite	An aluminosilicate mineral with approximate chemical composition H2Al2Si2O8.H2O. Rocks that are rich in kaolinite are known as kaolin or china clay.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_140499		
MONDO:0042499	biolink:Disease	benign familial neonatal-infantile seizures 1		OMIM:601764|GARD:0000856	mondo.json	benign infantile familial convulsions 1|benign familial infantile convulsions syndrome|convulsions, benign familial infantile, 1|seizures, benign familial infantile, 1|benign familial infantile convulsions syndrome 1|benign infantile familial convulsions|BFIC1|BFIS1	http://purl.obolibrary.org/obo/MONDO_0042499	https://omim.org/entry/601764	
MONDO:0042493	biolink:Disease	gastric non-hodgkin lymphoma	An extranodal non-Hodgkin lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.	NCIT:C27235|UMLS:C1333784|GARD:0000089|SCTID:448709005	mondo.json	non-Hodgkin lymphoma of stomach|non-Hodgkins gastric lymphoma|lymphoma, gastric non Hodgkins type|gastric non-Hodgkin's lymphoma|non-Hodgkin's lymphoma of the stomach|primary gastric non-Hodgkin's lymphoma|non-Hodgkin's lymphoma of stomach|gastric non-Hodgkin lymphoma|stomach lymphoma, non-Hodgkins type|stomach non-Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0042493	UMLS:C1333784|http://identifiers.org/snomedct/448709005|NCIT:C27235	gard_rare
MONDO:0042494	biolink:Disease	childhood malignant melanoma	A melanoma that occurs during childhood.	GARD:0000091|NCIT:C131506|UMLS:C4329660	mondo.json	pediatric melanoma (disease)|melanoma (disease) of childhood|childhood melanoma|malignant melanoma, childhood|childhood melanoma (disease)	http://purl.obolibrary.org/obo/MONDO_0042494	UMLS:C4329660|NCIT:C131506	gard_rare
MONDO:0042495	biolink:Disease	arteriosclerotic retinopathy	A arteriosclerosis disorder that involves the retina.	SCTID:95691008|UMLS:C0339478|ICD9:440.8|GARD:0000113	mondo.json	retinal arteriosclerosis|retina arteriosclerosis disorder|retinopathy, arteriosclerotic|arteriosclerosis, retina|arteriosclerosis disorder of retina|arteriosclerotic retinopathy	http://purl.obolibrary.org/obo/MONDO_0042495	http://identifiers.org/snomedct/95691008|UMLS:C0339478	gard_rare
MONDO:0042496	biolink:Disease	ergotism	Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine.	GARD:0000196|ICD9:988.2|SCTID:51510002|MESH:D004881	mondo.json	poisonings, ergot|poisoning, ergot|St. Anthony fire|Saint Anthony's fire|ergotisms|ergotism|Saint Anthonys fire|Saint Anthony fire|ergot poisonings|ergot poisoning|St. Anthonys fire|fire, St. Anthonys|St. Anthony's fire|St Anthony's fire	http://purl.obolibrary.org/obo/MONDO_0042496	http://identifiers.org/mesh/D004881|http://identifiers.org/snomedct/51510002	gard_rare
MONDO:0017497	biolink:Disease	congenital absence of thigh and lower leg with foot present, bilateral		Orphanet:295091|ICD10CM:Q72.13	mondo.json	Femorotibiofibular intercalary transverse meromelia, bilateral	http://purl.obolibrary.org/obo/MONDO_0017497	http://purl.bioontology.org/ontology/ICD10CM/Q72.13|Orphanet:295091	ordo_clinical_subtype
MONDO:0017498	biolink:Disease	congenital absence of both forearm and hand, unilateral	Congenital absence of both forearm and hand, unilateral is a rare developmental defect during embryogenesis characterized by a unilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. Left or right side may be involved.	Orphanet:295093	mondo.json	radio-ulnar terminal transverse meromelia, unilateral	http://purl.obolibrary.org/obo/MONDO_0017498	Orphanet:295093	ordo_clinical_subtype
MONDO:0017499	biolink:Disease	congenital absence of both forearm and hand, bilateral	Congenital absence of both forearm and hand, bilateral is a rare developmental defect during embryogenesis characterized by a bilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand.	ICD10CM:Q71.23|Orphanet:295095	mondo.json	radio-ulnar terminal transverse meromelia, bilateral	http://purl.obolibrary.org/obo/MONDO_0017499	http://purl.bioontology.org/ontology/ICD10CM/Q71.23|Orphanet:295095	ordo_clinical_subtype
MONDO:0017493	biolink:Disease	fibular hemimelia, bilateral		Orphanet:295083	mondo.json	fibular longitudinal meromelia, bilateral	http://purl.obolibrary.org/obo/MONDO_0017493	Orphanet:295083	ordo_clinical_subtype
MONDO:0017494	biolink:Disease	obsolete congenital absence of upper arm and forearm with hand present, unilateral		Orphanet:295085	mondo.json	humero-radio-ulnar intercalary transverse meromelia, unilateral	http://purl.obolibrary.org/obo/MONDO_0017494	Orphanet:295085	
MONDO:0017495	biolink:Disease	obsolete congenital absence of upper arm and forearm with hand present, bilateral		Orphanet:295087|ICD10CM:Q71.13	mondo.json	humero-radio-ulnar intercalary transverse meromelia, bilateral	http://purl.obolibrary.org/obo/MONDO_0017495	http://purl.bioontology.org/ontology/ICD10CM/Q71.13|Orphanet:295087	
MONDO:0017496	biolink:Disease	congenital absence of thigh and lower leg with foot present, unilateral		Orphanet:295089	mondo.json	Femorotibiofibular intercalary transverse meromelia, unilateral	http://purl.obolibrary.org/obo/MONDO_0017496	Orphanet:295089	ordo_clinical_subtype
MONDO:0017480	biolink:Disease	amelia of lower limb, unilateral		Orphanet:295057	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017480	Orphanet:295057	ordo_clinical_subtype
MONDO:0017481	biolink:Disease	amelia of lower limb, bilateral		Orphanet:295059	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017481	Orphanet:295059	ordo_clinical_subtype
CHEBI:84735	biolink:ChemicalSubstance	algal metabolite	Any eukaryotic metabolite produced during a metabolic reaction in algae including unicellular organisms like chlorella and diatoms to multicellular organisms like giant kelps and brown algae.		mondo.json	algal metabolites	http://purl.obolibrary.org/obo/CHEBI_84735		
MONDO:0017486	biolink:Disease	radial hemimelia, unilateral		Orphanet:295069	mondo.json	radial longitidinal meromelia, unilateral	http://purl.obolibrary.org/obo/MONDO_0017486	Orphanet:295069	ordo_clinical_subtype
MONDO:0017487	biolink:Disease	radial hemimelia, bilateral		Orphanet:295071	mondo.json	radial longitidinal meromelia, bilateral	http://purl.obolibrary.org/obo/MONDO_0017487	Orphanet:295071	ordo_clinical_subtype
MONDO:0017488	biolink:Disease	ulnar hemimelia, bilateral		Orphanet:295073	mondo.json	ulnar longitudinal meromelia, bilateral	http://purl.obolibrary.org/obo/MONDO_0017488	Orphanet:295073	ordo_clinical_subtype
MONDO:0017489	biolink:Disease	ulnar hemimelia, unilateral		Orphanet:295075	mondo.json	ulnar longitudinal meromelia, unilateral	http://purl.obolibrary.org/obo/MONDO_0017489	Orphanet:295075	ordo_clinical_subtype
MONDO:0017482	biolink:Disease	humeral agenesis/hypoplasia, unilateral		Orphanet:295061	mondo.json	humeral intercalary meromelia, unilateral	http://purl.obolibrary.org/obo/MONDO_0017482	Orphanet:295061	ordo_clinical_subtype
MONDO:0017483	biolink:Disease	humeral agenesis/hypoplasia, bilateral		Orphanet:295063	mondo.json	humeral intercalary meromelia, bilateral	http://purl.obolibrary.org/obo/MONDO_0017483	Orphanet:295063	ordo_clinical_subtype
MONDO:0017484	biolink:Disease	femoral agenesis/hypoplasia, unilateral		Orphanet:295065	mondo.json	femoral intercalary meromelia, unilateral	http://purl.obolibrary.org/obo/MONDO_0017484	Orphanet:295065	ordo_clinical_subtype
MONDO:0017485	biolink:Disease	femoral agenesis/hypoplasia, bilateral		Orphanet:295067	mondo.json	femoral intercalary meromelia, bilateral	http://purl.obolibrary.org/obo/MONDO_0017485	Orphanet:295067	ordo_clinical_subtype
MONDO:0030449	biolink:Disease	deafness, autosomal recessive 118, with cochlear aplasia		OMIM:619553	mondo.json	DFNB118	http://purl.obolibrary.org/obo/MONDO_0030449	https://omim.org/entry/619553	
MONDO:0030448	biolink:Disease	immunodeficiency 86		OMIM:619549	mondo.json	IMD86	http://purl.obolibrary.org/obo/MONDO_0030448	https://omim.org/entry/619549	
GO:0007159	biolink:NamedThing	leukocyte cell-cell adhesion	The attachment of a leukocyte to another cell via adhesion molecules.		mondo.json	leukocyte adhesion|leukocyte cell adhesion	http://purl.obolibrary.org/obo/GO_0007159		
MONDO:0042433	biolink:Disease	mycotic endocarditis	An endocarditis (disease) caused by infection with Fungi.	SCTID:86348002|UMLS:C0276648	mondo.json	Fungi caused endocarditis (disease)|mycotic endocarditis|fungal endocarditis|Fungi endocarditis (disease)	http://purl.obolibrary.org/obo/MONDO_0042433	http://identifiers.org/snomedct/86348002|UMLS:C0276648	
GO:0007155	biolink:NamedThing	cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.		mondo.json	single organism cell adhesion|cell adhesion molecule activity	http://purl.obolibrary.org/obo/GO_0007155		
GO:0007154	biolink:NamedThing	cell communication	Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment.		mondo.json		http://purl.obolibrary.org/obo/GO_0007154		
GO:0007162	biolink:NamedThing	negative regulation of cell adhesion	Any process that stops, prevents, or reduces the frequency, rate or extent of cell adhesion.		mondo.json	cell adhesion receptor inhibitor activity|down-regulation of cell adhesion|down regulation of cell adhesion|inhibition of cell adhesion|downregulation of cell adhesion	http://purl.obolibrary.org/obo/GO_0007162		
MONDO:0030453	biolink:Disease	developmental and epileptic encephalopathy 97		OMIM:619561	mondo.json	DEE97	http://purl.obolibrary.org/obo/MONDO_0030453	https://omim.org/entry/619561	
GO:0032114	biolink:NamedThing	regulation of glucose-6-phosphatase activity	Any process that modulates the frequency, rate or extent of glucose-6-phosphatase activity, the catalysis of the reaction: D-glucose 6-phosphate + H2O = D-glucose + phosphate.		mondo.json		http://purl.obolibrary.org/obo/GO_0032114		
MONDO:0030455	biolink:Disease	dystonia 31		OMIM:619565	mondo.json	DYT31	http://purl.obolibrary.org/obo/MONDO_0030455	https://omim.org/entry/619565	
GO:0032113	biolink:NamedThing	regulation of carbohydrate phosphatase activity	Any process that modulates the frequency, rate or extent of carbohydrate phosphatase activity, the catalysis of the hydrolysis of phosphate from a carbohydrate phosphate.		mondo.json		http://purl.obolibrary.org/obo/GO_0032113		
MONDO:0030454	biolink:Disease	Joubert syndrome 39		OMIM:619562	mondo.json	JBTS39	http://purl.obolibrary.org/obo/MONDO_0030454	https://omim.org/entry/619562	
GO:0032109	biolink:NamedThing	positive regulation of response to nutrient levels	Any process that activates or increases the frequency, rate or extent of a response to nutrient levels.		mondo.json	up-regulation of response to nutrient levels|up regulation of response to nutrient levels|activation of response to nutrient levels|stimulation of response to nutrient levels|upregulation of response to nutrient levels	http://purl.obolibrary.org/obo/GO_0032109		
GO:0032108	biolink:NamedThing	negative regulation of response to nutrient levels	Any process that stops, prevents, or reduces the frequency, rate or extent of a response to nutrient levels.		mondo.json	downregulation of response to nutrient levels|inhibition of response to nutrient levels|down-regulation of response to nutrient levels|down regulation of response to nutrient levels	http://purl.obolibrary.org/obo/GO_0032108		
MONDO:0030457	biolink:Disease	immunodeficiency 87 and autoimmunity	An autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation.	OMIM:619573	mondo.json	IMD87|immunodeficiency due to DEF6 deficiency	http://purl.obolibrary.org/obo/MONDO_0030457	https://omim.org/entry/619573	
GO:0032107	biolink:NamedThing	regulation of response to nutrient levels	Any process that modulates the frequency, rate or extent of a response to nutrient levels.		mondo.json		http://purl.obolibrary.org/obo/GO_0032107		
MONDO:0030456	biolink:Disease	muscular dystrophy, limb-girdle, autosomal recessive 27		OMIM:619566	mondo.json	LGMDR27	http://purl.obolibrary.org/obo/MONDO_0030456	https://omim.org/entry/619566	
GO:0032106	biolink:NamedThing	positive regulation of response to extracellular stimulus	Any process that activates, maintains or increases the rate of a response to an extracellular stimulus.		mondo.json	stimulation of response to extracellular stimulus|up-regulation of response to extracellular stimulus|activation of response to extracellular stimulus|upregulation of response to extracellular stimulus|up regulation of response to extracellular stimulus	http://purl.obolibrary.org/obo/GO_0032106		
MONDO:0030458	biolink:Disease	Charcot-Marie-Tooth disease, axonal, Type 2HH		OMIM:619574	mondo.json	CMT2HH	http://purl.obolibrary.org/obo/MONDO_0030458	https://omim.org/entry/619574	
GO:0032105	biolink:NamedThing	negative regulation of response to extracellular stimulus	Any process that stops, prevents, or reduces the frequency, rate or extent of a response to an extracellular stimulus.		mondo.json	downregulation of response to extracellular stimulus|down regulation of response to extracellular stimulus|inhibition of response to extracellular stimulus|down-regulation of response to extracellular stimulus	http://purl.obolibrary.org/obo/GO_0032105		
GO:0034767	biolink:NamedThing	positive regulation of ion transmembrane transport	Any process that activates or increases the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other.		mondo.json	up-regulation of transmembrane ion transport|up regulation of transmembrane ion transport|activation of transmembrane ion transport|positive regulation of transmembrane ion transport|stimulation of transmembrane ion transport|positive regulation of ion membrane transport|upregulation of transmembrane ion transport	http://purl.obolibrary.org/obo/GO_0034767		
GO:0007166	biolink:NamedThing	cell surface receptor signaling pathway	The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription.		mondo.json	cell surface receptor linked signalling pathway|cell surface receptor linked signal transduction|cell surface receptor linked signaling pathway	http://purl.obolibrary.org/obo/GO_0007166		
GO:0007165	biolink:NamedThing	signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.		mondo.json	signal transduction by trans-phosphorylation|signalling cascade|signal transduction by protein phosphorylation|signaling cascade|signalling pathway|signal transduction by conformational transition|signal transduction by cis-phosphorylation|signaling pathway	http://purl.obolibrary.org/obo/GO_0007165		
GO:0034760	biolink:NamedThing	negative regulation of iron ion transmembrane transport	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of iron ions from one side of a membrane to the other by means of some agent such as a transporter or pore.		mondo.json	negative regulation of transmembrane iron transport|downregulation of transmembrane iron ion transport|down regulation of transmembrane iron ion transport|negative regulation of iron ion membrane transport|inhibition of transmembrane iron ion transport|down-regulation of transmembrane iron ion transport|negative regulation of transmembrane iron ion transport	http://purl.obolibrary.org/obo/GO_0034760		
GO:0034761	biolink:NamedThing	positive regulation of iron ion transmembrane transport	Any process that activates or increases the frequency, rate or extent of the directed movement of iron ions from one side of a membrane to the other by means of some agent such as a transporter or pore.		mondo.json	positive regulation of transmembrane iron ion transport|up regulation of transmembrane iron ion transport|stimulation of transmembrane iron ion transport|up-regulation of transmembrane iron ion transport|positive regulation of iron ion membrane transport|activation of transmembrane iron ion transport|positive regulation of transmembrane iron transport|upregulation of transmembrane iron ion transport	http://purl.obolibrary.org/obo/GO_0034761		
GO:0034762	biolink:NamedThing	regulation of transmembrane transport	Any process that modulates the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other.		mondo.json	regulation of membrane transport	http://purl.obolibrary.org/obo/GO_0034762		
GO:0034763	biolink:NamedThing	negative regulation of transmembrane transport	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other.		mondo.json	negative regulation of membrane transport|down-regulation of transmembrane transport|down regulation of transmembrane transport|downregulation of transmembrane transport|inhibition of transmembrane transport	http://purl.obolibrary.org/obo/GO_0034763		
CHEBI:60798	biolink:ChemicalSubstance	excitatory amino acid antagonist	Any substance which inhibits the action of receptors for excitatory amino acids.		mondo.json	excitatory amino acid receptor antagonist|EAA receptor antagonist|EAA receptor antagonists|excitatory amino acid antagonists|excitatory amino acid receptor antagonists	http://purl.obolibrary.org/obo/CHEBI_60798		
GO:0034764	biolink:NamedThing	positive regulation of transmembrane transport	Any process that activates or increases the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other.		mondo.json	activation of transmembrane transport|stimulation of transmembrane transport|upregulation of transmembrane transport|positive regulation of membrane transport|up-regulation of transmembrane transport|up regulation of transmembrane transport	http://purl.obolibrary.org/obo/GO_0034764		
GO:0034765	biolink:NamedThing	regulation of ion transmembrane transport	Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other.		mondo.json	regulation of transmembrane ion transport|regulation of ion membrane transport	http://purl.obolibrary.org/obo/GO_0034765		
GO:0034766	biolink:NamedThing	negative regulation of ion transmembrane transport	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other.		mondo.json	down regulation of transmembrane ion transport|inhibition of transmembrane ion transport|downregulation of transmembrane ion transport|negative regulation of ion membrane transport|down-regulation of transmembrane ion transport|negative regulation of transmembrane ion transport	http://purl.obolibrary.org/obo/GO_0034766		
GO:0032104	biolink:NamedThing	regulation of response to extracellular stimulus	Any process that modulates the frequency, rate or extent of a response to an extracellular stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0032104		
GO:0032103	biolink:NamedThing	positive regulation of response to external stimulus	Any process that activates, maintains or increases the rate of a response to an external stimulus.		mondo.json	stimulation of response to external stimulus|upregulation of response to external stimulus|up-regulation of response to external stimulus|up regulation of response to external stimulus|activation of response to external stimulus	http://purl.obolibrary.org/obo/GO_0032103		
MONDO:0030463	biolink:Disease	spermatogenic failure 58		OMIM:619585	mondo.json	SPGF58	http://purl.obolibrary.org/obo/MONDO_0030463	https://omim.org/entry/619585	
GO:0032102	biolink:NamedThing	negative regulation of response to external stimulus	Any process that stops, prevents, or reduces the frequency, rate or extent of a response to an external stimulus.		mondo.json	down-regulation of response to external stimulus|down regulation of response to external stimulus|inhibition of response to external stimulus|downregulation of response to external stimulus	http://purl.obolibrary.org/obo/GO_0032102		
MONDO:0030465	biolink:Disease	cataract 49		OMIM:619593	mondo.json	CTRCT49	http://purl.obolibrary.org/obo/MONDO_0030465	https://omim.org/entry/619593	
GO:0032101	biolink:NamedThing	regulation of response to external stimulus	Any process that modulates the frequency, rate or extent of a response to an external stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0032101		
OBO:ECTO_0000200	biolink:NamedThing	exposure to lipid	An exposure to lipid.		mondo.json	exposure to lipid	http://purl.obolibrary.org/obo/ECTO_0000200		
MONDO:0030462	biolink:Disease	Joubert syndrome 40		OMIM:619582	mondo.json	JBTS40	http://purl.obolibrary.org/obo/MONDO_0030462	https://omim.org/entry/619582	
HGNC:897	biolink:NamedThing	AVPR2			mondo.json		http://identifiers.org/hgnc/897		
HGNC:894	biolink:NamedThing	AVP			mondo.json		http://identifiers.org/hgnc/894		
FOODON:00003194	biolink:NamedThing	vegetarian food product	A food product not including meat and animal tissue products (such as gelatin or animal-derived rennet).		mondo.json	vegetarian food	http://purl.obolibrary.org/obo/FOODON_00003194		
GO:0034756	biolink:NamedThing	regulation of iron ion transport	Any process that modulates the frequency, rate or extent of the directed movement of iron ions (Fe) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	regulation of Fe transport|regulation of iron ion import|regulation of iron transport|regulation of iron import	http://purl.obolibrary.org/obo/GO_0034756		
HGNC:27365	biolink:NamedThing	TECRL			mondo.json		http://identifiers.org/hgnc/27365		
GO:0034757	biolink:NamedThing	negative regulation of iron ion transport	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of iron ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	downregulation of iron ion transport|down regulation of iron ion transport|inhibition of iron ion transport|down-regulation of iron ion transport|negative regulation of iron transport	http://purl.obolibrary.org/obo/GO_0034757		
GO:0046700	biolink:NamedThing	heterocycle catabolic process	The chemical reactions and pathways resulting in the breakdown of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings).		mondo.json	heterocycle degradation|heterocycle breakdown|heterocycle catabolism	http://purl.obolibrary.org/obo/GO_0046700		
GO:0034758	biolink:NamedThing	positive regulation of iron ion transport	Any process that activates or increases the frequency, rate or extent of the directed movement of iron ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	up-regulation of iron ion transport|activation of iron ion transport|positive regulation of iron transport|upregulation of iron ion transport|up regulation of iron ion transport|stimulation of iron ion transport	http://purl.obolibrary.org/obo/GO_0034758		
GO:0007135	biolink:NamedThing	meiosis II	The second nuclear division of meiosis, in which the two chromatids in each chromosome are separated, resulting in four daughter nuclei from the two nuclei produced in meiosis II.		mondo.json	meiosis II nuclear division	http://purl.obolibrary.org/obo/GO_0007135		
HGNC:890	biolink:NamedThing	AUH			mondo.json		http://identifiers.org/hgnc/890		
GO:0034759	biolink:NamedThing	regulation of iron ion transmembrane transport	Any process that modulates the frequency, rate or extent of the directed movement of iron ions (Fe) from one side of a membrane to the other by means of some agent such as a transporter or pore.		mondo.json	regulation of iron ion membrane transport|regulation of transmembrane iron transport|regulation of transmembrane iron ion transport|regulation of transmembrane Fe transport	http://purl.obolibrary.org/obo/GO_0034759		
MONDO:0042451	biolink:Disease	endomyometritis	An inflammation of the endometrium and the myometrium.	SCTID:88027004	mondo.json	endomyometritis	http://purl.obolibrary.org/obo/MONDO_0042451	http://identifiers.org/snomedct/88027004	
MONDO:0042452	biolink:Disease	tertiary lesion of yaws		SCTID:88037009|UMLS:C0343833	mondo.json	tertiary yaws|tertiary stage of yaws|tertiary lesion of yaws	http://purl.obolibrary.org/obo/MONDO_0042452	UMLS:C0343833|http://identifiers.org/snomedct/88037009	
GO:0009792	biolink:NamedThing	embryo development ending in birth or egg hatching	The process whose specific outcome is the progression of an embryo over time, from zygote formation until the end of the embryonic life stage. The end of the embryonic life stage is organism-specific and may be somewhat arbitrary; for mammals it is usually considered to be birth, for insects the hatching of the first instar larva from the eggshell.		mondo.json	embryogenesis	http://purl.obolibrary.org/obo/GO_0009792		
GO:0007140	biolink:NamedThing	male meiotic nuclear division	A cell cycle process by which the cell nucleus divides as part of a meiotic cell cycle in the male germline.		mondo.json	male nuclear division|male meiosis	http://purl.obolibrary.org/obo/GO_0007140		
GO:0034754	biolink:NamedThing	cellular hormone metabolic process	The chemical reactions and pathways involving any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone, as carried out by individual cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0034754		
GO:0034755	biolink:NamedThing	iron ion transmembrane transport	A process in which an iron ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore.		mondo.json	high-affinity iron ion transport|iron ion membrane transport|low affinity iron ion transport|iron(2+) transmembrane transport|high affinity iron ion transport|low-affinity iron ion transmembrane transport|high-affinity iron ion transmembrane transport|high affinity ferrous ion transmembrane transport|transmembrane iron transport|ferrous iron transmembrane transport|high-affinity ferrous ion transmembrane transport|ferrous ion transmembrane transport|low-affinity iron ion transport	http://purl.obolibrary.org/obo/GO_0034755		
MONDO:0030475	biolink:Disease	heterotaxy, visceral, 11, autosomal, with male infertility		OMIM:619608	mondo.json	HTX11	http://purl.obolibrary.org/obo/MONDO_0030475	https://omim.org/entry/619608	
MONDO:0030474	biolink:Disease	heterotaxy, visceral, 10, autosomal, with male infertility		OMIM:619607	mondo.json	HTX10	http://purl.obolibrary.org/obo/MONDO_0030474	https://omim.org/entry/619607	
CHR:9606-chr8q24.3	biolink:NamedThing	8q24.3 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr8q24.3		
MONDO:0030476	biolink:Disease	Galloway-Mowat syndrome 10		OMIM:619609	mondo.json	GAMOS10	http://purl.obolibrary.org/obo/MONDO_0030476	https://omim.org/entry/619609	
HP:0004299	biolink:PhenotypicFeature	Hernia of the abdominal wall	The presence of a hernia in the abdominal wall.	SNOMEDCT_US:128545000|Fyler:4414|UMLS:C1442978	mondo.json	Herniated abdominal wall	http://purl.obolibrary.org/obo/HP_0004299		hposlim_core
MONDO:0030471	biolink:Disease	Galloway-Mowat syndrome 9		OMIM:619603	mondo.json	GAMOS9	http://purl.obolibrary.org/obo/MONDO_0030471	https://omim.org/entry/619603	
HP:0004298	biolink:PhenotypicFeature	Abnormality of the abdominal wall	The presence of any abnormality affecting the abdominal wall.	UMLS:C4021664	mondo.json	Abnormality of external features of the abdomen|Abnormality of the abdominal wall	http://purl.obolibrary.org/obo/HP_0004298		hposlim_core
MONDO:0030473	biolink:Disease	developmental and epileptic encephalopathy 99		OMIM:619606	mondo.json	DEE99	http://purl.obolibrary.org/obo/MONDO_0030473	https://omim.org/entry/619606	
HP:0004297	biolink:PhenotypicFeature	Abnormality of the biliary system	An abnormality of the biliary system.	UMLS:C0940767	mondo.json		http://purl.obolibrary.org/obo/HP_0004297		
MONDO:0030472	biolink:Disease	developmental and epileptic encephalopathy 98		OMIM:619605	mondo.json	DEE98	http://purl.obolibrary.org/obo/MONDO_0030472	https://omim.org/entry/619605	
GO:0007147	biolink:NamedThing	female meiosis II	The cell cycle process in which the second meiotic division occurs in the female germline.		mondo.json	female meiosis II nuclear division	http://purl.obolibrary.org/obo/GO_0007147		
HGNC:27375	biolink:NamedThing	MSRB3			mondo.json		http://identifiers.org/hgnc/27375		
GO:0007143	biolink:NamedThing	female meiotic nuclear division	A cell cycle process by which the cell nucleus divides as part of a meiotic cell cycle in the female germline.		mondo.json	female meiosis|female meiotic division	http://purl.obolibrary.org/obo/GO_0007143		
NCBITaxon:2169561	biolink:OrganismalEntity	Ortervirales		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2169561		
GO:0007142	biolink:NamedThing	male meiosis II	A cell cycle process comprising the steps by which a cell progresses through male meiosis II, the second meiotic division in the male germline.		mondo.json	male meiosis II nuclear division	http://purl.obolibrary.org/obo/GO_0007142		
MONDO:0030480	biolink:Disease	hearing loss, autosomal recessive 119		OMIM:619615	mondo.json	deafness, autosomal recessive 119|DFNB119	http://purl.obolibrary.org/obo/MONDO_0030480	https://omim.org/entry/619615	
GO:0046717	biolink:NamedThing	acid secretion	The controlled release of acid by a cell or a tissue.		mondo.json		http://purl.obolibrary.org/obo/GO_0046717		
NCIT:C68749	biolink:NamedThing	HER2/Neu Negative			mondo.json		http://purl.obolibrary.org/obo/NCIT_C68749		http://purl.obolibrary.org/obo/NCIT_C142799|http://purl.obolibrary.org/obo/NCIT_C142800|http://purl.obolibrary.org/obo/NCIT_C116977
MONDO:0042458	biolink:Disease	Trichinella spiralis infectious disease	An disease or disorder caused by infection with Trichinella spiralis.	SCTID:88264003|UMLS:C3887668	mondo.json	trichinelliasis caused by Trichinella spiralis|Trichinella spiralis disease or disorder|infection caused by larvae of Trichinella spiralis|infection by larvae of Trichinella spiralis|trichinellosis caused by Trichinella spiralis|Trichinella spiralis caused disease or disorder|trichiniasis caused by Trichinella spiralis|trichinosis caused by Trichinella spiralis	http://purl.obolibrary.org/obo/MONDO_0042458	http://identifiers.org/snomedct/88264003|UMLS:C3887668	
HP:0031899	biolink:PhenotypicFeature	Abnormal coagulation factor V activity	Any deviation from the activity of coagulation factor V.		mondo.json	Abnormal factor V activity	http://purl.obolibrary.org/obo/HP_0031899		
NCIT:C68748	biolink:NamedThing	HER2/Neu Positive			mondo.json		http://purl.obolibrary.org/obo/NCIT_C68748		http://purl.obolibrary.org/obo/NCIT_C142799|http://purl.obolibrary.org/obo/NCIT_C142800|http://purl.obolibrary.org/obo/NCIT_C116977
GO:0010795	biolink:NamedThing	regulation of ubiquinone biosynthetic process	Any process that modulates the frequency, rate or extent of ubiquinone biosynthesis. Ubiquinone biosynthesis consists of the chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme.		mondo.json		http://purl.obolibrary.org/obo/GO_0010795		
MONDO:0030486	biolink:Disease	dystonia 32		OMIM:619637	mondo.json	DYT32	http://purl.obolibrary.org/obo/MONDO_0030486	https://omim.org/entry/619637	
MONDO:0030487	biolink:Disease	spondylometaphyseal dysplasia, pagnamenta type		OMIM:619638	mondo.json	SMDP	http://purl.obolibrary.org/obo/MONDO_0030487	https://omim.org/entry/619638	
MONDO:0030482	biolink:Disease	spastic paraplegia 84, autosomal recessive		OMIM:619621	mondo.json	SPG84	http://purl.obolibrary.org/obo/MONDO_0030482	https://omim.org/entry/619621	
MONDO:0030484	biolink:Disease	immunodeficiency 89 and autoimmunity		OMIM:619632	mondo.json	IMD89	http://purl.obolibrary.org/obo/MONDO_0030484	https://omim.org/entry/619632	
MONDO:0030483	biolink:Disease	immunodeficiency 88	An autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. The single patient described did not develop other clinical infectious diseases, although serology documented exposure to various viruses and bacteria. Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG). Additional manifestations include persistent reactive airway disease associated with increased production of Th2 cytokines.	OMIM:619630	mondo.json	IMD88|Mendelian susceptibility to mycobacterial diseases due to TBX21 deficiency	http://purl.obolibrary.org/obo/MONDO_0030483	https://omim.org/entry/619630	
MONDO:0030527	biolink:Disease	epidermolysis bullosa simplex 2C, localized		OMIM:619594	mondo.json	EBS2C	http://purl.obolibrary.org/obo/MONDO_0030527	https://omim.org/entry/619594	
MONDO:0030529	biolink:Disease	agammaglobulinemia 10, autosomal dominant	An agammaglobulinemia characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. Laboratory studies show low or absent circulating B cells and hypo- or agammaglobulinemia. Affected individuals may have adverse reactions to certain vaccinations, such as the polio vaccine. Treatment with replacement Ig is effective; hematopoietic stem cell transplantation has also been reported.	OMIM:619707	mondo.json	AGM10	http://purl.obolibrary.org/obo/MONDO_0030529	https://omim.org/entry/619707	
HGNC:15480	biolink:NamedThing	DIAPH3			mondo.json		http://identifiers.org/hgnc/15480		
MONDO:0030528	biolink:Disease	immunodeficiency 93 and hypertrophic cardiomyopathy	An autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. Immunologic workup typically shows decreased circulating B cells and hypo- or agammaglobulinemia, sometimes with neutropenia or T-cell lymphocytosis, although laboratory findings may be variable among patients. Ig replacement therapy is beneficial. Cardiac involvement can also include atrial septal defect, valvular insufficiency, and pre-excitation syndrome. Rare myopathic or neurologic involvement has been reported, but these features are not consistently part of the disorder and may be related to other genetic defects.	OMIM:619705	mondo.json	IMD93|immunodeficiency and hypertrophic cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0030528	https://omim.org/entry/619705	
MONDO:0005567	biolink:Disease	substance withdrawal syndrome	A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions.	ICD9:292.0|SCTID:363101005|EFO:0005800|DOID:0060001|UMLS:C0152128|NCIT:C35046|MESH:D013375	mondo.json	withdrawal disorder|substance withdrawal|drug withdrawal|drug withdrawal syndrome|substance withdrawal disorder|substance withdrawal syndrome|withdrawal syndrome	http://purl.obolibrary.org/obo/MONDO_0005567	NCIT:C35046|http://identifiers.org/mesh/D013375|DOID:0060001|http://identifiers.org/snomedct/363101005|UMLS:C0152128	
MONDO:0030523	biolink:Disease	oocyte maturation defect 12		OMIM:619697	mondo.json	OOMD12	http://purl.obolibrary.org/obo/MONDO_0030523	https://omim.org/entry/619697	
MONDO:0005566	biolink:Disease	neonatal abstinence syndrome	A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors.	SCTID:414819007|EFO:0005799|MESH:D009357|UMLS:C0027609|DOID:9828|NCIT:C87101|ICD9:779.5|ICD9:760.8	mondo.json	neonatal narcotic withdrawal syndrome|NAS|neonatal withdrawal|drug withdrawal syndrome in newborn	http://purl.obolibrary.org/obo/MONDO_0005566	UMLS:C0027609|http://identifiers.org/snomedct/414819007|http://identifiers.org/mesh/D009357|NCIT:C87101|DOID:9828	
MONDO:0030522	biolink:Disease	spermatogenic failure 64		OMIM:619696	mondo.json	SPGF64	http://purl.obolibrary.org/obo/MONDO_0030522	https://omim.org/entry/619696	
MONDO:0005569	biolink:Disease	obsolete cartilage disease	OBSOLETE. Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE).	SCTID:50927007|EFO:0005802|MESH:D002357|DOID:1222|ICD9:733.99|UMLS:C0007302	mondo.json	chondropathy|cartilage tissue disease or disorder|cartilage disorder|disorder of cartilage tissue|disease of cartilage tissue|disease or disorder of cartilage tissue|cartilage tissue disease	http://purl.obolibrary.org/obo/MONDO_0005569	http://identifiers.org/snomedct/50927007|http://identifiers.org/mesh/D002357|UMLS:C0007302|DOID:1222	
MONDO:0030525	biolink:Disease	epidermolysis bullosa simplex 2B, generalized intermediate		OMIM:619588	mondo.json	EBS2B	http://purl.obolibrary.org/obo/MONDO_0030525	https://omim.org/entry/619588	
MONDO:0005568	biolink:Disease	cholesterol embolism	Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset.	ICD9:445|DOID:1461|MESH:D017700|UMLS:C0585266|EFO:0005801|SCTID:307406004|UMLS:C0149649|ICD9:459.89	mondo.json	warfarin blue toe syndrome|purple toe syndrome|atheroembolism|cholesterol crystal embolism|trash foot	http://purl.obolibrary.org/obo/MONDO_0005568	UMLS:C0585266|http://identifiers.org/snomedct/307406004|DOID:1461|UMLS:C0149649|http://identifiers.org/mesh/D017700	
MONDO:0030524	biolink:Disease	mucopolysaccharidosis, type 10		OMIM:619698	mondo.json	MPS10	http://purl.obolibrary.org/obo/MONDO_0030524	https://omim.org/entry/619698	
MONDO:0005563	biolink:Disease	nut midline carcinoma	A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene.	ONCOTREE:NMCHN|UMLS:C1707291|DOID:0060463|UMLS:CN237663|Orphanet:443167|EFO:0005783|Wikipedia:NUT_midline_carcinoma|NCIT:C45716	mondo.json	Midline carcinoma of children and Young adults with NUT rearrangement|NMC|NUT carcinoma|NUT midline carcinoma of the head and neck|nuclear protein in testis midline carcinoma|carcinoma with t(15;19)(q13;p13.1) translocation|NUT Midline carcinoma	http://purl.obolibrary.org/obo/MONDO_0005563	UMLS:C1707291|UMLS:CN237663|NCIT:C45716|DOID:0060463|Orphanet:443167	ordo_disease
MONDO:0005562	biolink:Disease	age-related hearing impairment	Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males.	EFO:0005782	mondo.json	ARHI	http://purl.obolibrary.org/obo/MONDO_0005562		
MONDO:0005565	biolink:Disease	blastoma	A malignant neoplasm composed of undifferentiated cells.	NCIT:C8997|DOID:0070003|DOID:4766|EFO:0005785|ICDO:8981/3|UMLS:C0936282	mondo.json	blastoma|embryoma	http://purl.obolibrary.org/obo/MONDO_0005565	DOID:4766|NCIT:C8997|DOID:0070003|UMLS:C0936282	
MONDO:0005564	biolink:Disease	embryonal neoplasm	A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003	UMLS:C0027654|MESH:D009373|DOID:688|EFO:0005784|NCIT:C3264|ONCOTREE:EMBT	mondo.json	embryonal cancer|EMBT|embryo neoplasm|embryonal neoplasm|embryonal tumor	http://purl.obolibrary.org/obo/MONDO_0005564	UMLS:C0027654|DOID:688|NCIT:C3264	
MONDO:0005561	biolink:Disease	aortic disorder	Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC)	SCTID:47040006|NCIT:C101253|EFO:0005775|DOID:520|ICD9:447.9|UMLS:C0003493|MESH:D001018	mondo.json	aorta disease|disease or disorder of aorta|disorder of the aorta|disease of aorta|aorta disease or disorder|aortic disorder|disorder of aorta	http://purl.obolibrary.org/obo/MONDO_0005561	DOID:520|NCIT:C101253|UMLS:C0003493|http://identifiers.org/mesh/D001018|http://identifiers.org/snomedct/47040006	
MONDO:0005560	biolink:Disease	brain disorder	A disease affecting the brain or part of the brain.	NCIT:C96413|ICD9:348.30|EFO:0005774|ICD9:348.8|UMLS:C0085584|ICD9:348.9|MESH:D001927|UMLS:C0006111|DOID:936|SCTID:81308009|ICD9:348.3	mondo.json	encephalopathy|disease of brain|brain disease or disorder|disorder of brain|brain disease|disease or disorder of brain	http://purl.obolibrary.org/obo/MONDO_0005560	http://identifiers.org/mesh/D001927|DOID:936|UMLS:C0006111|http://identifiers.org/snomedct/81308009|NCIT:C96413|UMLS:C0085584	
MONDO:0017556	biolink:Disease	Madelung deformity, unilateral		Orphanet:295221	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017556	Orphanet:295221	ordo_clinical_subtype
MONDO:0017557	biolink:Disease	Madelung deformity, bilateral		Orphanet:295223	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017557	Orphanet:295223	ordo_clinical_subtype
MONDO:0017558	biolink:Disease	congenital elbow dislocation, unilateral		Orphanet:295225	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017558	Orphanet:295225	ordo_clinical_subtype
MONDO:0017559	biolink:Disease	congenital elbow dislocation, bilateral		Orphanet:295227	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017559	Orphanet:295227	ordo_clinical_subtype
MONDO:0017552	biolink:Disease	humero-ulnar synostosis, unilateral		Orphanet:295213	mondo.json	humero-ulnar fusion, unilateral	http://purl.obolibrary.org/obo/MONDO_0017552	Orphanet:295213	ordo_clinical_subtype
MONDO:0017553	biolink:Disease	humero-ulnar synostosis, bilateral		Orphanet:295215	mondo.json	humero-ulnar fusion, bilateral	http://purl.obolibrary.org/obo/MONDO_0017553	Orphanet:295215	ordo_clinical_subtype
MONDO:0017554	biolink:Disease	radio-ulnar synostosis, unilateral		Orphanet:295217|UMLS:CN203290	mondo.json	radio-ulnar fusion, unilateral	http://purl.obolibrary.org/obo/MONDO_0017554	Orphanet:295217|UMLS:CN203290	ordo_clinical_subtype
MONDO:0030531	biolink:Disease	spermatogenic failure 65		OMIM:619712	mondo.json	SPGF65	http://purl.obolibrary.org/obo/MONDO_0030531	https://omim.org/entry/619712	
MONDO:0017555	biolink:Disease	radio-ulnar synostosis, bilateral		Orphanet:295219|UMLS:CN203291	mondo.json	radio-ulnar fusion, bilateral	http://purl.obolibrary.org/obo/MONDO_0017555	Orphanet:295219|UMLS:CN203291	ordo_clinical_subtype
MONDO:0017550	biolink:Disease	humero-radial synostosis, unilateral		Orphanet:295209	mondo.json	humero-radial fusion, unilateral	http://purl.obolibrary.org/obo/MONDO_0017550	Orphanet:295209	ordo_clinical_subtype
MONDO:0017551	biolink:Disease	humero-radial synostosis, bilateral		Orphanet:295211	mondo.json	humero-radial fusion, bilateral	http://purl.obolibrary.org/obo/MONDO_0017551	Orphanet:295211	ordo_clinical_subtype
MONDO:0030538	biolink:Disease	dystonia 34, myoclonic		OMIM:619724	mondo.json	DYT34	http://purl.obolibrary.org/obo/MONDO_0030538	https://omim.org/entry/619724	
MONDO:0030537	biolink:Disease	central hypoventilation syndrome, congenital, 2, and autonomic dysfunction		OMIM:619482	mondo.json	CCHS2|central hypoventilation syndrome, congenital, 2, and autonomic dysfunction	http://purl.obolibrary.org/obo/MONDO_0030537	https://omim.org/entry/619482	
HGNC:15492	biolink:NamedThing	ANKH			mondo.json		http://identifiers.org/hgnc/15492		
MONDO:0030539	biolink:Disease	central hypoventilation syndrome, congenital, 3		OMIM:619483	mondo.json	CCHS3|central hypoventilation syndrome, congenital, 3	http://purl.obolibrary.org/obo/MONDO_0030539	https://omim.org/entry/619483	
MONDO:0005578	biolink:Disease	arthritic joint disease	An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain.	EFO:0005856|SCTID:3723001|NCIT:C2883|UMLS:C0003864|MESH:D001168|DOID:848|Wikipedia:Arthritis	mondo.json	inflammatory disorder of joint|skeletal joint inflammation|arthritis|inflammation of skeletal joint	http://purl.obolibrary.org/obo/MONDO_0005578	http://identifiers.org/mesh/D001168|NCIT:C2883|DOID:848|http://identifiers.org/snomedct/3723001|UMLS:C0003864	
MONDO:0030534	biolink:Disease	hypogonadotropic hypogonadism 26 with or without anosmia		OMIM:619718	mondo.json	HH26	http://purl.obolibrary.org/obo/MONDO_0030534	https://omim.org/entry/619718	
MONDO:0030533	biolink:Disease	intellectual developmental disorder, autosomal recessive 73		OMIM:619717	mondo.json	MRT73	http://purl.obolibrary.org/obo/MONDO_0030533	https://omim.org/entry/619717	
MONDO:0005577	biolink:Disease	obsolete narcolepsy without cataplexy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005577		
MONDO:0005579	biolink:Disease	epilepsy, idiopathic generalized	A chronic condition characterised by recurrent generalised seizures.	OMIMPS:600669|SCTID:19598007|MESH:C562694|NCIT:C3021|EFO:0005917|DOID:1827	mondo.json	generalized epilepsy|idiopathic generalized epilepsy|generalised epilepsy|EIG|epilepsy, idiopathic generalized	http://purl.obolibrary.org/obo/MONDO_0005579	NCIT:C3021|http://identifiers.org/mesh/C562694|DOID:1827|https://omim.org/phenotypicSeries/PS600669|http://identifiers.org/snomedct/19598007	
MONDO:0030535	biolink:Disease	epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive		OMIM:619599	mondo.json	EBS2D	http://purl.obolibrary.org/obo/MONDO_0030535	https://omim.org/entry/619599	
MONDO:0005574	biolink:Disease	tauopathy	Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration.	UMLS:C0949664|MESH:D024801|DOID:680|EFO:0005815	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005574	DOID:680|http://identifiers.org/mesh/D024801|UMLS:C0949664	
MONDO:0005573	biolink:Disease	obsolete type II hypersensitivity reaction disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005573		
CHEBI:35703	biolink:ChemicalSubstance	xenobiotic	A xenobiotic (Greek, xenos "foreign"; bios "life") is a compound that is foreign to a living organism. Principal xenobiotics include: drugs, carcinogens and various compounds that have been introduced into the environment by artificial means.		mondo.json	xenobiotic compounds|Xenobiotic|xenobiotic|xenobiotics	http://purl.obolibrary.org/obo/CHEBI_35703		
MONDO:0005576	biolink:Disease	cryoglobulinemia	Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause.	UMLS:C0010403|GARD:0006217|SCTID:30911005|ICD9:273.2|ICD10CM:D89.1|MESH:D003449|NCIT:C26736|DOID:2917|EFO:0005846	mondo.json	cryoglobulinemia|Cryoimmunoglobulinaemia	http://purl.obolibrary.org/obo/MONDO_0005576	UMLS:C0010403|DOID:2917|http://identifiers.org/snomedct/30911005|NCIT:C26736|http://identifiers.org/mesh/D003449|http://purl.bioontology.org/ontology/ICD10CM/D89.1	gard_rare
MONDO:0005575	biolink:Disease	colorectal cancer	A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma.	OMIM:114500|SCTID:363510005|Orphanet:466667|EFO:0005842|UMLS:C1527249|DOID:9256|DOID:5672|KEGG:05210|NCIT:C4978	mondo.json	colon cancer, susceptibility to, autosomal dominant, somatic mutation|colorectal cancer, susceptibility to, autosomal dominant, somatic mutation|malignant colorectal tumor|malignant tumor of the large intestine|malignant tumor of large intestine|malignant large bowel neoplasm|malignant neoplasm of the large bowel|CRC|malignant neoplasm of large bowel|cancer of colorectum|cancer of large intestine|malignant large bowel tumor|colorectal cancer with chromosomal instability, somatic|malignant colorectal neoplasm|colon cancer, somatic|colorectal cancer, autosomal dominant, somatic mutation|large intestine cancer|colorectal cancer, somatic|malignant tumor of the large bowel|colorectum cancer|malignant tumor of large bowel|malignant large intestine neoplasm|malignant neoplasm of the large intestine|cancer of the large bowel|malignant neoplasm of large intestine|colon cancer|colorectal cancer|malignant neoplasm of colorectum|malignant large intestine tumor|cancer of large bowel|colon cancer, advanced, somatic|malignant colorectum neoplasm	http://purl.obolibrary.org/obo/MONDO_0005575	Orphanet:466667|DOID:5672|DOID:9256|http://identifiers.org/snomedct/363510005|https://omim.org/entry/114500|NCIT:C4978	clingen
CHEBI:35705	biolink:ChemicalSubstance	immunosuppressive agent	An agent that suppresses immune function by one of several mechanisms of action. Classical cytotoxic immunosuppressants act by inhibiting DNA synthesis. Others may act through activation of T-cells or by inhibiting the activation of helper cells. In addition, an immunosuppressive agent is a role played by a compound which is exhibited by a capability to diminish the extent and/or voracity of an immune response.		mondo.json	inmunosupresor|immunosuppressive agents|immunosuppressant	http://purl.obolibrary.org/obo/CHEBI_35705		
MONDO:0005570	biolink:Disease	hematologic disorder	A disease involving the hematopoietic system.	ICD9:289.9|SCTID:414022008|Orphanet:97992|ICD9:280-289.99|UMLS:CN882913|UMLS:C0018939|GTR:AN1320635|ICD9:289.8|ICD10CM:D50-D89|UMLS:CN206939|DOID:74|EFO:0005803|NCIT:C26323|MESH:D006402	mondo.json	hematological system disease|hematopoietic system disease or disorder|disorder of hematopoietic system|hematological disease|rare hematologic disease|blood disorder|disease or disorder of hematopoietic system|hematological disorder|hematological disorders and malignancies|hematologic disorder|hematopoietic system disease|blood disease|disease of the blood and blood-forming organs|disease of hematopoietic system|hematopoietic disease|blood dyscrasia|hematologic and lymphocytic disorder	http://purl.obolibrary.org/obo/MONDO_0005570	Orphanet:97992|http://identifiers.org/mesh/D006402|UMLS:CN206939|NCIT:C26323|UMLS:C0018939|DOID:74|UMLS:CN882913|http://identifiers.org/snomedct/414022008|http://purl.bioontology.org/ontology/ICD10CM/D50-D89	ordo_group_of_disorders|disease_grouping
MONDO:0005572	biolink:Disease	polycythemia due to hypoxia	Polycythemia resulting from hypoxia.	UMLS:C0856818|NCIT:C27312|EFO:0005805|DOID:2835	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005572	UMLS:C0856818|NCIT:C27312|DOID:2835	
MONDO:0005571	biolink:Disease	polycythemia	Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume.	NCIT:C26863|UMLS:C0032461|MESH:D011086|MedDRA:10036051|EFO:0005804|DOID:8432|Orphanet:98427|HP:0001901	mondo.json	polycythemia|polycythemia (disease)|erythrocythemia	http://purl.obolibrary.org/obo/MONDO_0005571	http://identifiers.org/mesh/D011086|DOID:8432|NCIT:C26863|UMLS:C0032461|Orphanet:98427	ordo_group_of_disorders|disease_grouping
MONDO:0017549	biolink:Disease	humero-radio-ulnar synostosis, bilateral		Orphanet:295207	mondo.json	humero-radio-ulnar fusion, bilateral	http://purl.obolibrary.org/obo/MONDO_0017549	Orphanet:295207	ordo_clinical_subtype
MONDO:0017545	biolink:Disease	zygodactyly type 4		UMLS:CN203277|Orphanet:295193	mondo.json	SD1, Castilla type|Zygodactyly, Castilla type|syndactyly type 1d|SD1d|syndactyly type 1, Castilla type	http://purl.obolibrary.org/obo/MONDO_0017545	Orphanet:295193|UMLS:CN203277	ordo_clinical_subtype
MONDO:0017546	biolink:Disease	congenital vertical talus, unilateral		Orphanet:295201	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017546	Orphanet:295201	ordo_clinical_subtype
MONDO:0017547	biolink:Disease	congenital vertical talus, bilateral		Orphanet:295203	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017547	Orphanet:295203	ordo_clinical_subtype
MONDO:0017548	biolink:Disease	humero-radio-ulnar synostosis, unilateral		Orphanet:295205	mondo.json	humero-radio-ulnar fusion, unilateral	http://purl.obolibrary.org/obo/MONDO_0017548	Orphanet:295205	ordo_clinical_subtype
CHEBI:35701	biolink:ChemicalSubstance	ester	A compound formally derived from an oxoacid RkE(=O)l(OH)m (l > 0) and an alcohol, phenol, heteroarenol, or enol by linking with formal loss of water from an acidic hydroxy group of the former and a hydroxy group of the latter.		mondo.json	esters|Ester	http://purl.obolibrary.org/obo/CHEBI_35701		
MONDO:0017541	biolink:Disease	obsolete central polydactyly of toes, unilateral		Orphanet:295183	mondo.json	mesoaxial polydactyly of toes, unilateral|mirror foot, unilateral	http://purl.obolibrary.org/obo/MONDO_0017541	Orphanet:295183	
MONDO:0017542	biolink:Disease	obsolete central polydactyly of toes, bilateral		Orphanet:295185	mondo.json	mesoaxial polydactyly of toes, bilateral|mirror foot, bilateral	http://purl.obolibrary.org/obo/MONDO_0017542	Orphanet:295185	
MONDO:0017543	biolink:Disease	zygodactyly type 2		Orphanet:295189|UMLS:CN203275	mondo.json	syndactyly type 1b|syndactyly type 1, Lueken type|SD1b|SD1, Lueken type|Zygodactyly, Lueken type	http://purl.obolibrary.org/obo/MONDO_0017543	Orphanet:295189|UMLS:CN203275	ordo_clinical_subtype
MONDO:0030543	biolink:Disease	combined oxidative phosphorylation deficiency 54		OMIM:619737	mondo.json	COXPD54	http://purl.obolibrary.org/obo/MONDO_0030543	https://omim.org/entry/619737	
MONDO:0017544	biolink:Disease	zygodactyly type 3		UMLS:CN203276|Orphanet:295191	mondo.json	Zygodactyly, Montagu type|syndactyly type 1c|SD1, Montagu type|SD1c|syndactyly type 1, Montagu type	http://purl.obolibrary.org/obo/MONDO_0017544	Orphanet:295191|UMLS:CN203276	ordo_clinical_subtype
NCBITaxon:10780	biolink:OrganismalEntity	Parvoviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_10780		
MONDO:0017540	biolink:Disease	obsolete postaxial polydactyly of toes, bilateral		Orphanet:295181	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017540	Orphanet:295181	
MONDO:0005549	biolink:Disease	renal cell adenocarcinoma	A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.	NCIT:C9385|EFO:0005708|ICDO:8312/3|ICDO:8311/1	mondo.json	renal cell carcinoma, stage unspecified|renal cell cancer|adenocarcinoma of kidney|adenocarcinoma of the kidney|renal cell carcinoma|kidney adenocarcinoma|renal cell adenocarcinoma|carcinoma, renal cell, malignant|RCC	http://purl.obolibrary.org/obo/MONDO_0005549	NCIT:C9385	
MONDO:0030549	biolink:Disease	hearing loss, autosomal dominant 81		OMIM:619500	mondo.json	deafness, autosomal dominant 81|hearing loss, autosomal dominant 81|DFNA81	http://purl.obolibrary.org/obo/MONDO_0030549	https://omim.org/entry/619500	
MONDO:0005548	biolink:Disease	obsolete malignant rhabdoid tumour			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005548		
MONDO:0005545	biolink:Disease	staphylococcus aureus infection	An infectious process in which the bacteria Staphylococcus aureus is present.	EFO:0005681|NCIT:C122576|SCTID:406602003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005545	NCIT:C122576|http://identifiers.org/snomedct/406602003	
MONDO:0005544	biolink:Disease	hippocampal sclerosis of aging	Age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus	EFO:0005678	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005544		
MONDO:0005547	biolink:Disease	obsolete desmoplastic medulloblastoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005547		
MONDO:0005546	biolink:Disease	fibromyalgia	A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation.	UMLS:C0016053|SCTID:24693007|Orphanet:41842|SCTID:203082005|DOID:631|NCIT:C87497|GARD:0012069|EFO:0005687|ICD9:729.1|ICD10CM:M79.7|MESH:D005356	mondo.json	fibromyalgia|fibromyalgia syndrome	http://purl.obolibrary.org/obo/MONDO_0005546	http://purl.bioontology.org/ontology/ICD10CM/M79.7|DOID:631|NCIT:C87497|http://identifiers.org/snomedct/203082005|Orphanet:41842|http://identifiers.org/mesh/D005356|UMLS:C0016053	
MONDO:0005541	biolink:Disease	spondylolysis	A defect in the pars interarticularis of a vertebral bone.	EFO:0005649|SCTID:240221008|MESH:D013169|UMLS:C0038018|HP:0003304|NCIT:C35034|DOID:2300	mondo.json	spondylolysis|spondylolysis (disease)	http://purl.obolibrary.org/obo/MONDO_0005541	NCIT:C35034|UMLS:C0038018|http://identifiers.org/mesh/D013169|http://identifiers.org/snomedct/240221008|DOID:2300	
MONDO:0005540	biolink:Disease	obsolete rectal adenocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005540		
MONDO:0005543	biolink:Disease	autoimmune hepatitis type 1	Autoimmune hepatitis characterized by the presence of antinuclear antibody (ANA) and antismooth-muscle antibody (ASMA).	SCTID:721711009|ICD9:571.49|SCTID:197284004|Orphanet:563576	mondo.json	autoimmune hepatitis type 1|type 1 AIH	http://purl.obolibrary.org/obo/MONDO_0005543	Orphanet:563576|http://identifiers.org/snomedct/197284004|http://identifiers.org/snomedct/721711009	
MONDO:0005542	biolink:Disease	acute coronary syndrome	Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction.	SCTID:394659003|NCIT:C53652|MESH:D054058|EFO:0005672|UMLS:C0948089	mondo.json	syndrome, acute coronary|coronary syndrome, acute|acute coronary syndromes|coronary syndromes, acute|acute coronary syndrome|syndromes, acute coronary	http://purl.obolibrary.org/obo/MONDO_0005542	UMLS:C0948089|NCIT:C53652|http://identifiers.org/snomedct/394659003|http://identifiers.org/mesh/D054058	
MONDO:0017538	biolink:Disease	Preaxial polydactyly of toes, bilateral		Orphanet:295177	mondo.json	bifid hallux, bilateral|bifid great toes, bilateral|bifid halluces, bilateral	http://purl.obolibrary.org/obo/MONDO_0017538	Orphanet:295177	ordo_clinical_subtype
MONDO:0017539	biolink:Disease	obsolete postaxial polydactyly of toes, unilateral		Orphanet:295179	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017539	Orphanet:295179	
NCBITaxon:333774	biolink:OrganismalEntity	unclassified Papillomaviridae		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_333774		
MONDO:0017534	biolink:Disease	postaxial polydactyly type B, bilateral		Orphanet:295169|UMLS:CN203265	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017534	UMLS:CN203265|Orphanet:295169	ordo_clinical_subtype
GO:0032092	biolink:NamedThing	positive regulation of protein binding	Any process that activates or increases the frequency, rate or extent of protein binding.		mondo.json	up-regulation of protein binding|up regulation of protein binding|activation of protein binding|stimulation of protein binding|upregulation of protein binding	http://purl.obolibrary.org/obo/GO_0032092		
GO:0032091	biolink:NamedThing	negative regulation of protein binding	Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding.		mondo.json	inhibition of protein binding|downregulation of protein binding|down-regulation of protein binding|down regulation of protein binding	http://purl.obolibrary.org/obo/GO_0032091		
MONDO:0017535	biolink:Disease	central polydactyly of fingers, unilateral		Orphanet:295171	mondo.json	mirror hand, unilateral|mesoaxial polydactyly of fingers, unilateral	http://purl.obolibrary.org/obo/MONDO_0017535	Orphanet:295171	ordo_clinical_subtype
HGNC:15469	biolink:NamedThing	DNAJC6			mondo.json		http://identifiers.org/hgnc/15469		
MONDO:0017536	biolink:Disease	central polydactyly of fingers, bilateral		Orphanet:295173	mondo.json	mesoaxial polydactyly of fingers, bilateral|mirror hand, bilateral	http://purl.obolibrary.org/obo/MONDO_0017536	Orphanet:295173	ordo_clinical_subtype
MONDO:0017537	biolink:Disease	Preaxial polydactyly of toes, unilateral		Orphanet:295175	mondo.json	bifid halluces, unilateral|bifid great toes, unilateral|bifid hallux, unilateral	http://purl.obolibrary.org/obo/MONDO_0017537	Orphanet:295175	ordo_clinical_subtype
MONDO:0017530	biolink:Disease	polysyndactyly, bilateral		Orphanet:295161|UMLS:CN203261	mondo.json	preaxial polydactyly type 4, bilateral	http://purl.obolibrary.org/obo/MONDO_0017530	Orphanet:295161|UMLS:CN203261	ordo_clinical_subtype
HGNC:15464	biolink:NamedThing	SPINK5			mondo.json		http://identifiers.org/hgnc/15464		
HGNC:15465	biolink:NamedThing	GPHN			mondo.json		http://identifiers.org/hgnc/15465		
MONDO:0017531	biolink:Disease	postaxial polydactyly type A, unilateral		Orphanet:295163|UMLS:CN203262	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017531	Orphanet:295163|UMLS:CN203262	ordo_clinical_subtype
MONDO:0017532	biolink:Disease	postaxial polydactyly type A, bilateral		Orphanet:295165|UMLS:CN203263	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017532	Orphanet:295165|UMLS:CN203263	ordo_clinical_subtype
MONDO:0017533	biolink:Disease	postaxial polydactyly type B, unilateral		Orphanet:295167|UMLS:CN203264	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017533	Orphanet:295167|UMLS:CN203264	ordo_clinical_subtype
MONDO:0030553	biolink:Disease	acromesomelic dysplasia 4		OMIM:619636	mondo.json	AMD4	http://purl.obolibrary.org/obo/MONDO_0030553	https://omim.org/entry/619636	
HGNC:39433	biolink:NamedThing	PRSS56			mondo.json		http://identifiers.org/hgnc/39433		
UBERON:0014393	biolink:AnatomicalEntity	sweat of axilla			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014393		
MONDO:0005559	biolink:Disease	neurodegenerative disease	A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function.	SCTID:80690008|ICD9:349.89|MESH:D019636|DOID:1289|EFO:0005772|NCIT:C4802	mondo.json	degenerative disorder of central nervous system|central nervous system neurodegenerative disorder|degenerative disease|neurodegenerative disease|brain degeneration|cerebral degeneration disease|central nervous system degenerative disorder	http://purl.obolibrary.org/obo/MONDO_0005559	NCIT:C4802|http://identifiers.org/snomedct/80690008|http://identifiers.org/mesh/D019636|DOID:1289	merged_class
UBERON:0014394	biolink:AnatomicalEntity	uterine fat pad			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014394		
UBERON:0014395	biolink:AnatomicalEntity	proximal mesopodial bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014395		
MONDO:0005556	biolink:Disease	lupus nephritis	Glomerulonephritis in the context of systemic lupus erythematosus.	SCTID:68815009|UMLS:C0024143|DOID:0080162|EFO:0005761|MESH:D008181|NCIT:C34789|GARD:0010747	mondo.json	Glomerulonephritides, lupus|glomerulonephritis, lupus|lupus glomerulonephritis|lupus nephritis|lupus Nephritides|Nephritides, lupus|lupus Glomerulonephritides|nephritis, lupus|SLE nephritis	http://purl.obolibrary.org/obo/MONDO_0005556	DOID:0080162|http://identifiers.org/mesh/D008181|http://identifiers.org/snomedct/68815009|NCIT:C34789|UMLS:C0024143	gard_rare
MONDO:0005555	biolink:Disease	cycloplegia	Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation.	EFO:0005758|DOID:10033|Wikipedia:Cycloplegia|ICD9:367.51|SCTID:68158006|UMLS:C0235238	mondo.json	cycloplegia|accommodative paresis|cycloplegic paralysis of accommodation|paralysis of accommodation|paresis of accommodation|loss of accommodation|visual accommodation paralysis|ciliary muscle paresis	http://purl.obolibrary.org/obo/MONDO_0005555	UMLS:C0235238|http://identifiers.org/snomedct/68158006|DOID:10033	
UBERON:0014390	biolink:AnatomicalEntity	muscle layer of ileum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014390		
MONDO:0005558	biolink:Disease	ovarian disorder	A disease involving the ovary.	NCIT:C26841|UMLS:C0029928|DOID:1100|MESH:D010049|EFO:0005771|SCTID:5552004	mondo.json	disorder of ovary|ovarian disease|ovary disease|disease or disorder of ovary|ovarian disorder|disease of ovary|ovary disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005558	NCIT:C26841|http://identifiers.org/snomedct/5552004|UMLS:C0029928|http://identifiers.org/mesh/D010049|DOID:1100	
UBERON:0014391	biolink:AnatomicalEntity	palmar/plantar sweat gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014391		
MONDO:0005557	biolink:Disease	calcium metabolic disease	Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization.	MESH:D002128|SCTID:71638002|ICD9:275.49|DOID:10575|ICD9:275.40|EFO:0005769|ICD9:275.4|UMLS:C0006705	mondo.json	calcium metabolism disease|disorder of calcium metabolism|calcium metabolism disorder	http://purl.obolibrary.org/obo/MONDO_0005557	DOID:10575|http://identifiers.org/mesh/D002128|http://identifiers.org/snomedct/71638002|UMLS:C0006705	
UBERON:0014392	biolink:AnatomicalEntity	sweat of palm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014392		
MONDO:0005552	biolink:Disease	ocular vascular disorder	A disorder that is caused by pathologic changes in the ocular vasculature.	EFO:0005753|NCIT:C35664	mondo.json	vasculature of eye disease|ocular vascular disorder|vasculature of eye disease or disorder|disorder of vasculature of eye|disease or disorder of vasculature of eye|disease of vasculature of eye	http://purl.obolibrary.org/obo/MONDO_0005552	NCIT:C35664	
MONDO:0005551	biolink:Disease	eye allergy	An allergic disease involving a pathogenic inflammatory response in the camera-type eye.	EFO:0005751	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005551		
MONDO:0005554	biolink:Disease	rheumatic disorder	Inflammatory and degenerative diseases of connective tissue structures, such as arthritis.	DOID:1575|SCTID:396332003|NCIT:C27204|EFO:0005755|UMLS:C0035435|ICD9:729.0|Wikipedia:Rheumatism|MESH:D012216	mondo.json	rheumatism|disease, rheumatic|inflammatory rheumatism|rheumatologic disorder|rheumatic disease|enthesopathy|enthesopathies|collagen disease|diseases, rheumatic|collagen vascular disease|musculoskeletal pain disorder|connective tissue disease	http://purl.obolibrary.org/obo/MONDO_0005554	http://identifiers.org/mesh/D012216|http://identifiers.org/snomedct/396332003|NCIT:C27204|UMLS:C0035435|DOID:1575	
MONDO:0005553	biolink:Disease	obsolete parathyroid disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005553		
UBERON:0014398	biolink:AnatomicalEntity	respiratory muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014398		
MONDO:0005550	biolink:Disease	infectious disease	A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact.	ICD9:079.0|SCTID:40733004|IDO:0000436|EFO:0005741|MESH:D003141|ICD9:136.9|ICD9:136.8|NCIT:C26726|ICD10CM:A00-B99|DOID:0050117	mondo.json	infectious|transmissible disease|infectious diseases and manifestations|infectious disorder|infectious disease|clinical infection|disease by infectious agent|communicable disease|infection	http://purl.obolibrary.org/obo/MONDO_0005550	DOID:0050117|http://identifiers.org/snomedct/40733004|NCIT:C26726|http://identifiers.org/mesh/D003141|http://purl.bioontology.org/ontology/ICD10CM/A00-B99	
UBERON:0014399	biolink:AnatomicalEntity	sinusoidal space			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014399		
MONDO:0017527	biolink:Disease	polydactyly of an index finger, unilateral		UMLS:CN203258|Orphanet:295152	mondo.json	preaxial polydactyly type 3, unilateral	http://purl.obolibrary.org/obo/MONDO_0017527	UMLS:CN203258|Orphanet:295152	ordo_clinical_subtype
MONDO:0017528	biolink:Disease	polydactyly of an index finger, bilateral		UMLS:CN203259|Orphanet:295154	mondo.json	preaxial polydactyly type 3, bilateral	http://purl.obolibrary.org/obo/MONDO_0017528	UMLS:CN203259|Orphanet:295154	ordo_clinical_subtype
MONDO:0017529	biolink:Disease	polysyndactyly, unilateral		UMLS:CN203260|Orphanet:295159	mondo.json	preaxial polydactyly type 4, unilateral	http://purl.obolibrary.org/obo/MONDO_0017529	UMLS:CN203260|Orphanet:295159	ordo_clinical_subtype
MONDO:0017523	biolink:Disease	polydactyly of a biphalangeal thumb, unilateral		Orphanet:295144|UMLS:CN203254	mondo.json	preaxial polydactyly type 1, unilateral	http://purl.obolibrary.org/obo/MONDO_0017523	UMLS:CN203254|Orphanet:295144	ordo_clinical_subtype
MONDO:0017524	biolink:Disease	polydactyly of a biphalangeal thumb, bilateral		Orphanet:295146|UMLS:CN203255	mondo.json	preaxial polydactyly type 1, bilateral	http://purl.obolibrary.org/obo/MONDO_0017524	UMLS:CN203255|Orphanet:295146	ordo_clinical_subtype
MONDO:0017525	biolink:Disease	polydactyly of a triphalangeal thumb, unilateral		Orphanet:295148|UMLS:CN203256	mondo.json	preaxial polydactyly type 2, unilateral|unilateral PPD2	http://purl.obolibrary.org/obo/MONDO_0017525	UMLS:CN203256|Orphanet:295148	ordo_clinical_subtype
MONDO:0017526	biolink:Disease	polydactyly of a triphalangeal thumb, bilateral		UMLS:CN203257|Orphanet:295150	mondo.json	preaxial polydactyly type 2, bilateral|bilateral PPD2	http://purl.obolibrary.org/obo/MONDO_0017526	UMLS:CN203257|Orphanet:295150	ordo_clinical_subtype
FOODON:00003203	biolink:NamedThing	food harvesting	A process which takes in some food material from an individual or community of plant or animal organisms in a given context and time, and outputs a precursor or consumable food product. This may include a part of an organism or the whole, and may involve killing the organism.		mondo.json		http://purl.obolibrary.org/obo/FOODON_00003203		
MONDO:0017520	biolink:Disease	symbrachydactyly of hand and foot, bilateral		Orphanet:295138|UMLS:CN203253	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017520	UMLS:CN203253|Orphanet:295138	ordo_clinical_subtype
MONDO:0017521	biolink:Disease	hyperphalangy, unilateral		Orphanet:295140	mondo.json	supernumerary phalanx, unilateral|supernumerary phalanges, unilateral|hyperphalangy in digits 2-5	http://purl.obolibrary.org/obo/MONDO_0017521	Orphanet:295140	ordo_clinical_subtype
MONDO:0017522	biolink:Disease	hyperphalangy, bilateral		Orphanet:295142	mondo.json	supernumerary phalanges, bilateral|supernumerary phalanx, bilateral	http://purl.obolibrary.org/obo/MONDO_0017522	Orphanet:295142	ordo_clinical_subtype
MONDO:0017590	biolink:Disease	carcinoma of the ampulla of vater	A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.	SCTID:254609000|NCIT:C3908|DOID:4932|EFO:1000079|Orphanet:300557|MedDRA:10048853|UMLS:C0262401|ONCOTREE:AMPCA	mondo.json	AMPCA|ampullary cancer|carcinoma of hepatopancreatic ampulla|hepatopancreatic ampulla carcinoma|ampullary carcinoma|ampulla of Vater carcinoma|carcinoma of ampulla of vater|ampulla of Vater cancer|Ampulloma	http://purl.obolibrary.org/obo/MONDO_0017590	Orphanet:300557|http://identifiers.org/snomedct/254609000|NCIT:C3908|DOID:4932|UMLS:C0262401	ordo_disease
MONDO:0017591	biolink:Disease	combined pulmonary fibrosis-emphysema syndrome		UMLS:CN203401|Orphanet:300564	mondo.json	CPFE	http://purl.obolibrary.org/obo/MONDO_0017591	Orphanet:300564|UMLS:CN203401	ordo_disease
ENVO:3100011	biolink:NamedThing	concentration of dioxygen in liquid water	The concentration of dioxygen when measured in liquid water.		mondo.json	liquid water dioxygen concentration	http://purl.obolibrary.org/obo/ENVO_3100011		
HGNC:27424	biolink:NamedThing	RBM20			mondo.json		http://identifiers.org/hgnc/27424		
HGNC:15446	biolink:NamedThing	PRPF31			mondo.json		http://identifiers.org/hgnc/15446		
MONDO:0017596	biolink:Disease	diffuse large B-cell lymphoma of the central nervous system	A diffuse large B-cell lymphoma arising from the central nervous system.	NCIT:C71720|SCTID:734066005|UMLS:C2026186|Orphanet:300849|ICDO:9680/3	mondo.json	diffuse large B-cell lymphoma of central nervous system|primary DLBCL of the CNS|CNS DLBCL|central nervous system diffuse large B-cell lymphoma|DLBCL of the CNS|primary diffuse large B-cell lymphoma of the central nervous system	http://purl.obolibrary.org/obo/MONDO_0017596	Orphanet:300849|NCIT:C71720|UMLS:C2026186|http://identifiers.org/snomedct/734066005	ordo_disease
MONDO:0017597	biolink:Disease	T-cell/histiocyte rich large B cell lymphoma	T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma and has an aggressive clinical course.	ICDO:9688/3|ONCOTREE:THRLBCL|UMLS:C1321547|Orphanet:300857|NCIT:C9496|GARD:0012257|ICDO:9680/3	mondo.json	T-cell rich/histiocyte-rich large B-cell lymphoma|T-cell/histiocyte rich lymphoma|THRLBCL|T-cell/histiocyte-rich large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0017597	Orphanet:300857|UMLS:C1321547|NCIT:C9496	gard_rare|ordo_disease
MONDO:0017598	biolink:Disease	primary cutaneous anaplastic large cell lymphoma	Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis with which it shares overlapping clinical and histopathologic features.	MESH:D054446|UMLS:C1301362|MedDRA:10065863|ONCOTREE:PCALCL|Orphanet:300865|NCIT:C6860	mondo.json	regressive atypical histiocytosis|ALCL, cutaneous|primary cutaneous CD30+ ALCL|C-ALCL|primary cutaneous CD30 Positive anaplastic large cell lymphoma|primary cutaneous CD30+ anaplastic large cell lymphoma|primary C-ALCL|anaplastic large-cell lymphoma, primary cutaneous type|primary anaplastic large cell lymphoma of skin|primary anaplastic large cell lymphoma of the skin	http://purl.obolibrary.org/obo/MONDO_0017598	NCIT:C6860|Orphanet:300865|http://identifiers.org/mesh/D054446|UMLS:C1301362	ordo_disease
MONDO:0017599	biolink:Disease	splenic diffuse red pulp small B-cell lymphoma	Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism.	NCIT:C80309|ONCOTREE:SDRPL|SCTID:763884007|Orphanet:300869|ICDO:9591/3|UMLS:C2699508	mondo.json	splenic diffuse red pulp lymphoma|SDRPL	http://purl.obolibrary.org/obo/MONDO_0017599	UMLS:C2699508|Orphanet:300869|http://identifiers.org/snomedct/763884007|NCIT:C80309	ordo_disease
MONDO:0017592	biolink:Disease	staphylococcal toxemia		MedDRA:10041932|Orphanet:300579|UMLS:C0854511	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017592	Orphanet:300579|UMLS:C0854511	disease_grouping|ordo_group_of_disorders
MONDO:0017593	biolink:Disease	juvenile amyotrophic lateral sclerosis	Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age.	UMLS:CN239582|GARD:0011901|Orphanet:300605|UMLS:C3468114|SCTID:718555006	mondo.json	juvenile Lou Gehrig disease|JALS|juvenile Charcot disease|amyotrophic lateral sclerosis, juvenile	http://purl.obolibrary.org/obo/MONDO_0017593	http://identifiers.org/snomedct/718555006|Orphanet:300605|UMLS:C3468114|UMLS:CN239582	gard_rare|ordo_disease
MONDO:0017594	biolink:Disease	indolent B-cell non-Hodgkin lymphoma		GARD:0010482|NCIT:C171299|Orphanet:300842	mondo.json	B cell lymphoma, indolent|indolent B cell lymphoma|indolent B-cell NHL	http://purl.obolibrary.org/obo/MONDO_0017594	NCIT:C171299|Orphanet:300842	gard_rare|disease_grouping|ordo_group_of_disorders
GO:0019098	biolink:NamedThing	reproductive behavior	The specific behavior of an organism that is associated with reproduction.		mondo.json	multi-organism reproductive behavior|reproductive behavior in a multicellular organism|multicellular organism reproductive behavior|reproductive behaviour|single-organism reproductive behavior	http://purl.obolibrary.org/obo/GO_0019098		
MONDO:0017595	biolink:Disease	aggressive B-cell non-Hodgkin lymphoma		Orphanet:300846	mondo.json	aggressive B-cell NHL	http://purl.obolibrary.org/obo/MONDO_0017595	Orphanet:300846	disease_grouping|ordo_group_of_disorders
MONDO:0017580	biolink:Disease	11p15.4 microduplication syndrome	11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.	Orphanet:300305|UMLS:CN203376	mondo.json	trisomy 11p15.4|dup(11)p(15.4)	http://purl.obolibrary.org/obo/MONDO_0017580	Orphanet:300305|UMLS:CN203376	ordo_malformation_syndrome
GO:0032060	biolink:NamedThing	bleb assembly	The assembly of a bleb, a cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Plasma membrane blebbing occurs during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses.		mondo.json	membrane blebbing|plasma membrane blebbing|cell blebbing|plasma membrane bleb assembly|blebbing	http://purl.obolibrary.org/obo/GO_0032060		
MONDO:0017589	biolink:Disease	follicular cholangitis and pancreatitis	Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts.	Orphanet:300552	mondo.json	follicular pancreatocholangitis	http://purl.obolibrary.org/obo/MONDO_0017589	Orphanet:300552	ordo_disease
UBERON:0026386	biolink:AnatomicalEntity	lumbar spinal cord white matter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0026386		
HGNC:15459	biolink:NamedThing	P2RX2			mondo.json		http://identifiers.org/hgnc/15459		
MONDO:0017585	biolink:Disease	painful orbital and systemic neurofibromas-marfanoid habitus syndrome		UMLS:CN203391|GARD:0011006|Orphanet:300501	mondo.json	multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus	http://purl.obolibrary.org/obo/MONDO_0017585	Orphanet:300501|UMLS:CN203391	gard_rare|ordo_disease
MONDO:0017586	biolink:Disease	onychocytic matricoma	Onychocytic matricoma is a rare tumor of the nail that is generally benign. Affected people often experience thickening of the involved portion of the nail. The tumor may be pigmented (melanonychia - a black or brown pigmentation of the normal nail plate) or non-pigmented. The exact underlying cause of onychocytic matricoma is currently unknown. It generally occurs sporadically in people with no family history of the condition. Treatment generally consists of surgical excision.	UMLS:CN203392|GARD:0011007|Orphanet:300504	mondo.json	acanthoma of the nail matrix	http://purl.obolibrary.org/obo/MONDO_0017586	Orphanet:300504|UMLS:CN203392	gard_rare|ordo_disease
HGNC:15454	biolink:NamedThing	SHOC2			mondo.json		http://identifiers.org/hgnc/15454		
MONDO:0017587	biolink:Disease	onychomatricoma	A neoplasm involving a UBERON:0002283.	UMLS:CN203393|Orphanet:300512	mondo.json	neoplasm of nail matrix|nail matrix tumor|nail matrix neoplasm|tumor of nail matrix	http://purl.obolibrary.org/obo/MONDO_0017587	Orphanet:300512|UMLS:CN203393	ordo_disease
HGNC:15455	biolink:NamedThing	MBTPS2			mondo.json		http://identifiers.org/hgnc/15455		
MONDO:0017588	biolink:Disease	nail tumor	A neoplasm involving a nail.	Orphanet:300515	mondo.json	nail neoplasm (disease)|neoplasm of nail|rare nail tumor|nail tumor|nail neoplasm|tumor of nail	http://purl.obolibrary.org/obo/MONDO_0017588	Orphanet:300515	ordo_group_of_disorders|disease_grouping
MONDO:0017581	biolink:Disease	familial infantile gigantism		UMLS:CN203384|Orphanet:300373	mondo.json	hereditary infantile gigantism|X-LAG (X-linked acrogigantism)|infantile gigantism due to pituitary hyperplasia|hereditary pituitary hyperplasia	http://purl.obolibrary.org/obo/MONDO_0017581	Orphanet:300373|UMLS:CN203384	ordo_disease
MONDO:0017582	biolink:Disease	pituitary adenocarcinoma	A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly.	HP:0011763|Orphanet:300385|DOID:4916|UMLS:C0346300|SCTID:254955001|NCIT:C4536|ICDO:8272/3|ONCOTREE:PTCA	mondo.json	PTCA|carcinoma of the pituitary gland|pituitary gland carcinoma|pituitary carcinoma|cancer of the pituitary gland|cancer of pituitary gland|cancer of the pituitary|pituitary gland cancer|cancer of pituitary|pituitary gland adenocarcinoma|carcinoma of pituitary gland|carcinoma of the pituitary|pituitary adenocarcinoma (disease)|carcinoma of pituitary	http://purl.obolibrary.org/obo/MONDO_0017582	Orphanet:300385|NCIT:C4536|UMLS:C0346300|http://identifiers.org/snomedct/254955001|DOID:4916	ordo_disease
MONDO:0017583	biolink:Disease	mirror polydactyly-vertebral segmentation-limbs defects syndrome	Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterised by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.	UMLS:CN203387|Orphanet:3004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017583	UMLS:CN203387|Orphanet:3004	ordo_malformation_syndrome
CHEBI:3992	biolink:ChemicalSubstance	cyclic ketone			mondo.json	cyclic ketones|Cyclic ketone	http://purl.obolibrary.org/obo/CHEBI_3992		
MONDO:0017584	biolink:Disease	Sagliker syndrome	A rare bone disease that arises due to secondary hyperparathyroidism in patients with chronic renal failure receiving dialysis characterized by 'uglifying' the appearance of the face	Orphanet:300493|UMLS:CN203388	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017584	Orphanet:300493|UMLS:CN203388	ordo_clinical_situation
MONDO:0030505	biolink:Disease	cholestasis, progressive familial intrahepatic, 8		OMIM:619662	mondo.json	PFIC8	http://purl.obolibrary.org/obo/MONDO_0030505	https://omim.org/entry/619662	
MONDO:0030507	biolink:Disease	spermatogenic failure 61		OMIM:619672	mondo.json	SPGF61	http://purl.obolibrary.org/obo/MONDO_0030507	https://omim.org/entry/619672	
MONDO:0030506	biolink:Disease	ovarian dysgenesis 9		OMIM:619665	mondo.json	ODG9	http://purl.obolibrary.org/obo/MONDO_0030506	https://omim.org/entry/619665	
MONDO:0005589	biolink:Disease	thiopurine immunosuppressant-induced pancreatitis	Pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine.	EFO:0006315	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005589		
MONDO:0030500	biolink:Disease	Loeys-Dietz syndrome 6		OMIM:619656	mondo.json	LDS6	http://purl.obolibrary.org/obo/MONDO_0030500	https://omim.org/entry/619656	
MONDO:0005588	biolink:Disease	chemotherapy-induced oral mucositis	Inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment.	EFO:0006313	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005588		
MONDO:0030503	biolink:Disease	cholestasis, progressive familial intrahepatic, 7, with or without hearing loss		OMIM:619658	mondo.json	PFIC7	http://purl.obolibrary.org/obo/MONDO_0030503	https://omim.org/entry/619658	
NCBITaxon:10798	biolink:OrganismalEntity	Human parvovirus B19		GC_ID:1	mondo.json	Parvovirus B19|Human erythrovirus B19|Erythrovirus B19|B19 virus	http://purl.obolibrary.org/obo/NCBITaxon_10798		
MONDO:0030502	biolink:Disease	tetrasomy	A chromosomal disorder consisting of the presence of two chromosomes of the same type in addition to the normal diploid number.	EFO:1001297|MESH:D058670|NCIT:C36601	mondo.json	tetrasomy	http://purl.obolibrary.org/obo/MONDO_0030502	http://identifiers.org/mesh/D058670	
MONDO:0005585	biolink:Disease	chemotherapy-induced hypertension	A form of hypertension that occurs as a direct result of chemotherapy treatment	EFO:0005942	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005585		
MONDO:0005584	biolink:Disease	congenital left-sided heart lesions	Serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth.	EFO:0005938	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005584		
ENVO:3100033	biolink:NamedThing	pressure of water	The pressure of some water.		mondo.json	water pressure	http://purl.obolibrary.org/obo/ENVO_3100033		
MONDO:0005587	biolink:Disease	obsolete non-Hodgkins lymphoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005587		
MONDO:0005586	biolink:Disease	head and neck neoplasm	A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.	EFO:0005950|SCTID:255055008|ONCOTREE:HEADNECK|ICD9:239.89|UMLS:C0018671|NCIT:C3077	mondo.json	tumor of craniocervical region|craniocervical region neoplasm|tumor of the head and neck|head and neck neoplasm (excluding central nervous system)|tumor of head and neck|head and neck neoplasm|neoplasm of craniocervical region|craniocervical region neoplasm (disease)|craniocervical region tumor|neoplasm of the head and neck|neoplasm of head and neck|head and neck tumor	http://purl.obolibrary.org/obo/MONDO_0005586	UMLS:C0018671|http://identifiers.org/snomedct/255055008|NCIT:C3077	
MONDO:0005581	biolink:Disease	AVL induced bursal lymphoma	Malignant lymphoma of the bursa of Fabricius, induced by avian leukosis virus occuring in birds.	EFO:0005923	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005581		
MONDO:0005580	biolink:Disease	esophageal squamous cell carcinoma	Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third.	NCIT:C4024|DOID:3748|UMLS:C0279626|SCTID:276804009|ONCOTREE:ESCC|MESH:D000077277|EFO:0005922|MESH:C562729|Orphanet:99977	mondo.json	squamous cell carcinoma of esophagus|scc of the esophagus|esophagus scc|esophageal epidermoid carcinoma|ESCC|squamous cell carcinoma of the esophagus|squamous cell car. - esophagus|esophagus squamous cell carcinoma|esophageal squamous cell carcinoma|esophageal squamous cell cancer|scc of esophagus|esophageal scc	http://purl.obolibrary.org/obo/MONDO_0005580	DOID:3748|http://identifiers.org/mesh/D000077277|NCIT:C4024|http://identifiers.org/mesh/C562729|http://identifiers.org/snomedct/276804009|UMLS:C0279626|Orphanet:99977	ordo_disease
MONDO:0030508	biolink:Disease	spermatogenic failure 62		OMIM:619673	mondo.json	SPGF62	http://purl.obolibrary.org/obo/MONDO_0030508	https://omim.org/entry/619673	
MONDO:0005583	biolink:Disease	non-human animal disease	A disease that occurs in animals.	MESH:D000820|UMLS:C0003047|EFO:0005932	mondo.json	animal disease|diseases, animal	http://purl.obolibrary.org/obo/MONDO_0005583	http://identifiers.org/mesh/D000820|UMLS:C0003047	
MONDO:0005582	biolink:Disease	binge eating disorder	Recurrent episodes of over-eating.	MESH:D002032|SCTID:439960005|NCIT:C97162|EFO:0005924	mondo.json	binge eating disorder|binge eating	http://purl.obolibrary.org/obo/MONDO_0005582	NCIT:C97162|http://identifiers.org/mesh/D002032|http://identifiers.org/snomedct/439960005	
MONDO:0017578	biolink:Disease	disorder of thiamine metabolism and transport		UMLS:CN227150|Orphanet:298644	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017578	UMLS:CN227150|Orphanet:298644	ordo_group_of_disorders|disease_grouping
MONDO:0017579	biolink:Disease	Baraitser-Winter cerebrofrontofacial syndrome	Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients.	Orphanet:2995|GARD:0005279|SCTID:702410002|DOID:0060229|ICD9:759.89|OMIMPS:243310	mondo.json	Fryns-Aftimos syndrome|BRWS|Baraitser-winter syndrome|trigonocephaly ptosis intellectual disability|trigonocephaly ptosis coloboma|iris coloboma with ptosis hypertelorism and intellectual disability|cerebro-frontofacial syndrome, type 3|iris coloboma with ptosis hypertelorism and mental retardation|trigonocephaly ptosis mental retardation	http://purl.obolibrary.org/obo/MONDO_0017579	Orphanet:2995|DOID:0060229|http://identifiers.org/snomedct/702410002|https://omim.org/phenotypicSeries/PS243310	ordo_malformation_syndrome|gard_rare
MONDO:0017574	biolink:Disease	chronic intestinal pseudoobstruction	Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth.	SCTID:235828008|Orphanet:2978|GARD:0012744	mondo.json	intestinal pseudo-obstruction, chronic|cipo|chronic intestinal pseudo-obstruction	http://purl.obolibrary.org/obo/MONDO_0017574	http://identifiers.org/snomedct/235828008|Orphanet:2978	ordo_clinical_syndrome|gard_rare
MONDO:0017575	biolink:Disease	mitochondrial neurogastrointestinal encephalomyopathy	A syndrome characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.	SCTID:718214007|OMIM:613662|MESH:C537477|OMIM:612075|GARD:0009920|Orphanet:298|OMIM:603041|NCIT:C119678	mondo.json	polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction|mitochondrial neurogastrointestinal encephalopathy syndrome|thymidine phosphorylase deficiency|OGIMD|MNGIE syndrome|POLIP|Mitochondrial neurogastrointestinal encephalopathy|MNGIE|oculogastrointestinal muscular dystrophy|mitochondrial Neurogastrointestingal encephalopathy|myoneurogastrointestinal encephalopathy syndrome	http://purl.obolibrary.org/obo/MONDO_0017575	http://identifiers.org/snomedct/718214007|NCIT:C119678|http://identifiers.org/mesh/C537477|Orphanet:298	ordo_disease|gard_rare
MONDO:0017576	biolink:Disease	46,XX disorder of sex development	Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures.	Orphanet:2982|UMLS:CN776919|Orphanet:325697|SCTID:8800006|UMLS:C2936403|MESH:D058489|NCIT:C127169	mondo.json	female pseudohermaphroditism|46,XX DSD|46,XX disorders of Sex development|46,XX differences of Sex development	http://purl.obolibrary.org/obo/MONDO_0017576	NCIT:C127169|UMLS:CN776919|http://identifiers.org/mesh/D058489|http://identifiers.org/snomedct/8800006|UMLS:C2936403|Orphanet:2982	ordo_group_of_disorders|disease_grouping
GO:0032058	biolink:NamedThing	positive regulation of translational initiation in response to stress	Any process that activates or increases the frequency, rate or extent of translation initiation as a result of a stimulus indicating the organism is under stress.		mondo.json	upregulation of translation initiation in response to stress|stimulation of translation initiation in response to stress|up regulation of translation initiation in response to stress|up-regulation of translation initiation in response to stress|activation of translation initiation in response to stress	http://purl.obolibrary.org/obo/GO_0032058		
MONDO:0017577	biolink:Disease	spontaneous periodic hypothermia	Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions.	Orphanet:29822|MESH:C537594|GARD:0004815|UMLS:C2931542	mondo.json	spontaneous recurrent hypothermia syndrome|episodic spontaneous hypothermia|Shapiro's syndrome|recurrent spontaneous hypothermia with hypoplasia of the corpus callosum|Shapiro syndrome|spontaneous periodic hypothermia syndrome	http://purl.obolibrary.org/obo/MONDO_0017577	http://identifiers.org/mesh/C537594|UMLS:C2931542|Orphanet:29822	ordo_disease
GO:0032057	biolink:NamedThing	negative regulation of translational initiation in response to stress	Any process that stops, prevents or reduces the rate of translation initiation as a result of a stimulus indicating the organism is under stress.		mondo.json	inhibition of translation initiation in response to stress|down-regulation of translation initiation in response to stress|downregulation of translation initiation in response to stress|down regulation of translation initiation in response to stress	http://purl.obolibrary.org/obo/GO_0032057		
MONDO:0017570	biolink:Disease	leukocyte adhesion deficiency	Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections.	UMLS:C0272187|Orphanet:2968|GARD:0009544|SCTID:77358003|NCIT:C27874|DOID:6612	mondo.json	LAD|congenital leukocyte adherence deficiency	http://purl.obolibrary.org/obo/MONDO_0017570	http://identifiers.org/snomedct/77358003|NCIT:C27874|UMLS:C0272187|DOID:6612|Orphanet:2968	ordo_disease|gard_rare
GO:0032056	biolink:NamedThing	positive regulation of translation in response to stress	Any process that activates or increases the frequency, rate or extent of translation as a result of a stimulus indicating the organism is under stress.		mondo.json	up regulation of translation in response to stress|activation of translation in response to stress|stimulation of translation in response to stress|upregulation of translation in response to stress|up-regulation of translation in response to stress	http://purl.obolibrary.org/obo/GO_0032056		
MONDO:0017571	biolink:Disease	Proteus-like syndrome	Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease.	OMIM:158350|SCTID:716862002|Orphanet:2969|GARD:0012801|GARD:0004525	mondo.json	Proteus like syndrome mental retardation eye defect|Proteus like syndrome intellectual disability eye defect|Cohen-Hayden syndrome	http://purl.obolibrary.org/obo/MONDO_0017571	Orphanet:2969|http://identifiers.org/snomedct/716862002	ordo_disease|gard_rare
GO:0032055	biolink:NamedThing	negative regulation of translation in response to stress	Any process that stops, prevents or reduces the rate of translation as a result of a stimulus indicating the organism is under stress.		mondo.json	down-regulation of translation in response to stress|down regulation of translation in response to stress|inhibition of translation in response to stress|downregulation of translation in response to stress	http://purl.obolibrary.org/obo/GO_0032055		
MONDO:0017572	biolink:Disease	tick-borne encephalitis	Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis.	MESH:D004675|GARD:0005216|MedDRA:10043848|DOID:0050175|EFO:1001309|UMLS:C0014061|ICD9:063.2|NCIT:C34579|Orphanet:297	mondo.json	TBE|central European encephalitis|west-Siberian encephalitis|Siberian tick-borne encephalitis|Western European tick-borne encephalitis|Far Eastern TBE|Russian spring-summer encephalitis|Tick-borne viral encephalitis|taiga encephalitis	http://purl.obolibrary.org/obo/MONDO_0017572	http://identifiers.org/mesh/D004675|UMLS:C0014061|DOID:0050175|NCIT:C34579|Orphanet:297	ordo_disease|gard_rare
OBO:ECTO_0000258	biolink:NamedThing	exposure to steroid hormone	An exposure to steroid hormone.		mondo.json	exposure to steroid hormone	http://purl.obolibrary.org/obo/ECTO_0000258		
MONDO:0017573	biolink:Disease	46,XX disorder of sex development-anorectal anomalies syndrome	46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.	UMLS:CN203326|Orphanet:2973	mondo.json	female pseudohermaphroditism-anorectal anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0017573	UMLS:CN203326|Orphanet:2973	ordo_malformation_syndrome
OBO:ECTO_0000259	biolink:NamedThing	exposure to glucocorticoid	An exposure to glucocorticoid.		mondo.json	exposure to glucocorticoid	http://purl.obolibrary.org/obo/ECTO_0000259		
MONDO:0030515	biolink:Disease	spermatogenic failure 63		OMIM:619689	mondo.json	SPGF63	http://purl.obolibrary.org/obo/MONDO_0030515	https://omim.org/entry/619689	
MONDO:0030518	biolink:Disease	trichothiodystrophy 9, nonphotosensitive		OMIM:619692	mondo.json	TTD9	http://purl.obolibrary.org/obo/MONDO_0030518	https://omim.org/entry/619692	
MONDO:0030517	biolink:Disease	trichothiodystrophy 8, nonphotosensitive		OMIM:619691	mondo.json	TTD8	http://purl.obolibrary.org/obo/MONDO_0030517	https://omim.org/entry/619691	
MONDO:0030512	biolink:Disease	spastic paraplegia 85, autosomal recessive		OMIM:619686	mondo.json	SPG85	http://purl.obolibrary.org/obo/MONDO_0030512	https://omim.org/entry/619686	
MONDO:0005599	biolink:Disease	malignant epithelioid mesothelioma	A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity.	DOID:4489|NCIT:C7985|UMLS:C0862312|EFO:0006452|ICDO:9052/3	mondo.json	epithelioid mesothelioma, malignant (morphologic abnormality)|epithelioid mesothelioma|epithelioid mesothelioma, malignant|epithelial mesothelioma|malignant epithelial mesothelioma	http://purl.obolibrary.org/obo/MONDO_0005599	DOID:4489|NCIT:C7985|UMLS:C0862312	
MONDO:0030514	biolink:Disease	leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy		OMIM:619688	mondo.json	HLD23	http://purl.obolibrary.org/obo/MONDO_0030514	https://omim.org/entry/619688	
MONDO:0030513	biolink:Disease	dystonia 33		OMIM:619687	mondo.json	DYT33	http://purl.obolibrary.org/obo/MONDO_0030513	https://omim.org/entry/619687	
MONDO:0005596	biolink:Disease	cystadenocarcinoma	A malignant cystic epithelial neoplasm arising from the glandular epithelium. The malignant epithelial cells invade the stroma. The cystic spaces contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenocarcinomas.	NCIT:C2971|DOID:3111|MESH:D003536|EFO:0006387|ICDO:8440/3|UMLS:C0010631	mondo.json	cystadenocarcinoma|cystadenocarcinoma NOS (morphologic abnormality)|cystadenocarcinoma (morphologic abnormality)|cystadenocarcinoma, malignant	http://purl.obolibrary.org/obo/MONDO_0005596	DOID:3111|UMLS:C0010631|http://identifiers.org/mesh/D003536|NCIT:C2971	
MONDO:0005595	biolink:Disease	laryngeal squamous cell carcinoma	A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx.	Orphanet:494550|EFO:0006352|ONCOTREE:LXSC|UMLS:C0280324|SCTID:405822008|NCIT:C4044|DOID:2876	mondo.json	LXSC|laryngeal throat squamous cell cancer|epidermoid carcinoma of the larynx|epidermoid carcinoma of larynx|larynx epidermoid carcinoma|squamous cell carcinoma of larynx|squamous cell carcinoma of the larynx|larynx squamous cell carcinoma|laryngeal epidermoid carcinoma|laryngeal squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005595	UMLS:C0280324|DOID:2876|NCIT:C4044|http://identifiers.org/snomedct/405822008|Orphanet:494550	ordo_disease
MONDO:0005598	biolink:Disease	dopaminergic neuroblastoma	A neuroblastoma associated with increased dopamine excretion.	PMID:3385588|EFO:0006391	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005598		
MONDO:0005597	biolink:Disease	cystic renal cell carcinoma	Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis.	EFO:0006388|PMID:3739121	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005597		
MONDO:0005592	biolink:Disease	smooth surface dental caries		ICD9:521.07|EFO:0006339	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005592		
MONDO:0030519	biolink:Disease	agammaglobulinemia 9, autosomal recessive	An autosomal recessive primary immunodeficiency characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells. Additional features include failure to thrive and skin involvement. The severity is variable: more severe cases may require hematopoietic stem cell transplantation, whereas others can be treated effectively with Ig replacement therapy.	OMIM:619693	mondo.json	AGM9	http://purl.obolibrary.org/obo/MONDO_0030519	https://omim.org/entry/619693	
MONDO:0005591	biolink:Disease	pit and fissure surface dental caries		ICD9:521.06|EFO:0006338	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005591		
MONDO:0005594	biolink:Disease	severe cutaneous adverse reaction	A permanent mark left on the skin in the process of wound healing.	MedDRA:20000020|EFO:0006346|NCIT:C34483|SCTID:275322007	mondo.json	scarring|Scar|SCAR	http://purl.obolibrary.org/obo/MONDO_0005594	http://identifiers.org/snomedct/275322007|NCIT:C34483	
MONDO:0005593	biolink:Disease	chronic periodontitis	A chronic inflammatory process that affects the tissues that surround and support the teeth.	ICD9:523.4|EFO:0006343|ICD10CM:K05.3|NCIT:C35326|SCTID:5689008|MESH:D055113|ICD9:523.40	mondo.json	periodontitis, chronic	http://purl.obolibrary.org/obo/MONDO_0005593	http://purl.bioontology.org/ontology/ICD10CM/K05.3|http://identifiers.org/mesh/D055113|NCIT:C35326|http://identifiers.org/snomedct/5689008	
MONDO:0005590	biolink:Disease	breast ductal adenocarcinoma	A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.	MESH:D018270|EFO:0006318|DOID:3007|NCIT:C4017	mondo.json	ductal adenocarcinoma|ductal carcinoma of breast|ductal carcinoma|ductal carcinoma of the breast|ductal breast adenocarcinoma|ductal breast carcinoma|duct adenocarcinoma|breast ductal carcinoma|mammary duct adenocarcinoma|duct carcinoma	http://purl.obolibrary.org/obo/MONDO_0005590	http://identifiers.org/mesh/D018270|NCIT:C4017|DOID:3007	
MONDO:0017567	biolink:Disease	macrodactyly of toes, bilateral		Orphanet:295245	mondo.json	macrodactyly of foot, bilateral	http://purl.obolibrary.org/obo/MONDO_0017567	Orphanet:295245	ordo_clinical_subtype
MONDO:0017568	biolink:Disease	Prata-Liberal-Goncalves syndrome	Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.	UMLS:CN203304|UMLS:C2931761|GARD:0000491|Orphanet:2956	mondo.json	brachydactyly-scoliosis-carpal fusion syndrome|acrodysplasia scoliosis	http://purl.obolibrary.org/obo/MONDO_0017568	Orphanet:2956|UMLS:C2931761|UMLS:CN203304	ordo_malformation_syndrome
MONDO:0017569	biolink:Disease	de Barsy syndrome	A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.	GARD:49|GARD:0000049|PMID:18388779|DOID:0070143|Orphanet:2962|MESH:C535990|SCTID:238826008	mondo.json	cutis laxa growth deficiency syndrome|autosomal recessive cutis laxa type III|cutis laxa-corneal clouding-intellectual disability syndrome|progeroid syndrome, De Barsy type|corneal clouding, cutis laxa and mental retardation|progeroid syndrome of de Barsy|De Barsy syndrome|progeroid syndrome, de Barsy type|corneal clouding, cutis laxa and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0017569	Orphanet:2962|http://identifiers.org/snomedct/238826008|http://identifiers.org/mesh/C535990|DOID:0070143	ordo_disease|gard_rare
MONDO:0017563	biolink:Disease	congenital patella dislocation, bilateral		Orphanet:295237	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017563	Orphanet:295237	ordo_clinical_subtype
MONDO:0017564	biolink:Disease	macrodactyly of fingers, unilateral		Orphanet:295239	mondo.json	macrodactyly of hand, unilateral	http://purl.obolibrary.org/obo/MONDO_0017564	Orphanet:295239	ordo_clinical_subtype
MONDO:0017565	biolink:Disease	macrodactyly of fingers, bilateral		Orphanet:295241	mondo.json	macrodactyly of hand, bilateral	http://purl.obolibrary.org/obo/MONDO_0017565	Orphanet:295241	ordo_clinical_subtype
MONDO:0017566	biolink:Disease	macrodactyly of toes, unilateral		Orphanet:295243	mondo.json	macrodactyly of foot, unilateral	http://purl.obolibrary.org/obo/MONDO_0017566	Orphanet:295243	ordo_clinical_subtype
HP:0031816	biolink:PhenotypicFeature	Abnormal oral morphology	Any structural anomaly of the mouth, which is also known as the oral cavity.		mondo.json		http://purl.obolibrary.org/obo/HP_0031816		
MONDO:0017560	biolink:Disease	congenital genu recurvatum	An abnormal alignment of the knee backwards that is due to a deformity in the knee joint.	SCTID:205063003|NCIT:C103184|Orphanet:295229|ICD9:754.40	mondo.json	genu recurvatum|hyperextension of knee deformity|hyperextension deformity of knee	http://purl.obolibrary.org/obo/MONDO_0017560	Orphanet:295229|http://identifiers.org/snomedct/205063003|NCIT:C103184	ordo_clinical_subtype
MONDO:0017561	biolink:Disease	congenital genu flexum		Orphanet:295232	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017561	Orphanet:295232	ordo_clinical_subtype
MONDO:0017562	biolink:Disease	congenital patella dislocation, unilateral		Orphanet:295234	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017562	Orphanet:295234	ordo_clinical_subtype
GO:0032042	biolink:NamedThing	mitochondrial DNA metabolic process	The chemical reactions and pathways involving mitochondrial DNA.		mondo.json	mtDNA metabolism|mitochondrial DNA metabolism|mtDNA metabolic process	http://purl.obolibrary.org/obo/GO_0032042		
CL:2000033	biolink:Cell	limb basal cell of epidermis	Any basal cell of epidermis that is part of a limb.		mondo.json		http://purl.obolibrary.org/obo/CL_2000033		
CL:2000030	biolink:Cell	hypothalamus cell	Any native cell that is part of a hypothalamus.		mondo.json		http://purl.obolibrary.org/obo/CL_2000030		
CL:2000032	biolink:Cell	peripheral nervous system neuron	Any neuron that is part of a peripheral nervous system.		mondo.json		http://purl.obolibrary.org/obo/CL_2000032		
UBERON:0002360	biolink:AnatomicalEntity	meninx			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002360		
CHEBI:59740	biolink:ChemicalSubstance	nucleophilic reagent	A reagent that forms a bond to its reaction partner (the electrophile) by donating both bonding electrons.		mondo.json	nucleophiles|nucleophilic reagents|nucleophile	http://purl.obolibrary.org/obo/CHEBI_59740		
UBERON:0002362	biolink:AnatomicalEntity	arachnoid mater			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002362		
UBERON:0002361	biolink:AnatomicalEntity	pia mater			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002361		
UBERON:0002368	biolink:AnatomicalEntity	endocrine gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002368		
UBERON:0002367	biolink:AnatomicalEntity	prostate gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002367		
HGNC:905	biolink:NamedThing	AXL			mondo.json		http://identifiers.org/hgnc/905		
UBERON:0002369	biolink:AnatomicalEntity	adrenal gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002369		
UBERON:0002364	biolink:AnatomicalEntity	tympanic membrane			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002364		
HGNC:904	biolink:NamedThing	AXIN2			mondo.json		http://identifiers.org/hgnc/904		
UBERON:0002363	biolink:AnatomicalEntity	dura mater			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002363		
HGNC:903	biolink:NamedThing	AXIN1			mondo.json		http://identifiers.org/hgnc/903		
UBERON:0002366	biolink:AnatomicalEntity	bulbo-urethral gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002366		
UBERON:0002365	biolink:AnatomicalEntity	exocrine gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002365		
UBERON:0002349	biolink:AnatomicalEntity	myocardium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002349		
CL:2000022	biolink:Cell	cardiac septum cell	Any native cell that is part of a cardiac septum.		mondo.json		http://purl.obolibrary.org/obo/CL_2000022		
CL:2000021	biolink:Cell	sebaceous gland cell	Any native cell that is part of a sebaceous gland.		mondo.json		http://purl.obolibrary.org/obo/CL_2000021		
CL:2000020	biolink:Cell	inner cell mass cell	Any native cell that is part of a inner cell mass.		mondo.json		http://purl.obolibrary.org/obo/CL_2000020		
UBERON:0002351	biolink:AnatomicalEntity	sinoatrial node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002351		
CHEBI:35785	biolink:ChemicalSubstance	sphingoid	Sphinganine, its homologs and stereoisomers, and the hydroxy and unsaturated derivatives of these compounds.		mondo.json	sphingoid bases|sphingoids|sphingoid base|sphingoid|Spd	http://purl.obolibrary.org/obo/CHEBI_35785		
UBERON:0002350	biolink:AnatomicalEntity	conducting system of heart			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002350		
CL:2000027	biolink:Cell	cerebellum basket cell	Any basket cell that is part of a cerebellum.		mondo.json		http://purl.obolibrary.org/obo/CL_2000027		
CL:2000029	biolink:Cell	central nervous system neuron	Any neuron that is part of a central nervous system.		mondo.json		http://purl.obolibrary.org/obo/CL_2000029		
CL:2000028	biolink:Cell	cerebellum glutamatergic neuron	Any glutamatergic neuron that is part of a cerebellum.		mondo.json		http://purl.obolibrary.org/obo/CL_2000028		
CHEBI:35789	biolink:ChemicalSubstance	oxo steroid			mondo.json	keto steroids|oxo steroids|oxosteroids|ketosteroids	http://purl.obolibrary.org/obo/CHEBI_35789		
UBERON:0002357	biolink:AnatomicalEntity	serous pericardium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002357		
UBERON:0002359	biolink:AnatomicalEntity	fibrous pericardium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002359		
UBERON:0002358	biolink:AnatomicalEntity	peritoneum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002358		
CHEBI:35780	biolink:ChemicalSubstance	phosphate ion	A phosphorus oxoanion that is the conjugate base of phosphoric acid.		mondo.json	phosphate|phosphate ions|Pi	http://purl.obolibrary.org/obo/CHEBI_35780		
UBERON:0002353	biolink:AnatomicalEntity	bundle of His			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002353		
HGNC:914	biolink:NamedThing	B2M			mondo.json		http://identifiers.org/hgnc/914		
UBERON:0002352	biolink:AnatomicalEntity	atrioventricular node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002352		
UBERON:0002355	biolink:AnatomicalEntity	pelvic region of trunk			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002355		
GO:0044042	biolink:NamedThing	glucan metabolic process	The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues.		mondo.json	glucan metabolism	http://purl.obolibrary.org/obo/GO_0044042		
UBERON:0002339	biolink:AnatomicalEntity	epithelium of lobar bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002339		
UBERON:0002338	biolink:AnatomicalEntity	lamina propria of bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002338		
CL:2000055	biolink:Cell	liver dendritic cell	Any dendritic cell that is part of a liver.		mondo.json	hepatic dendritic cell	http://purl.obolibrary.org/obo/CL_2000055		
CL:2000057	biolink:Cell	femural osteoblast	Any osteoblast that is part of a femur.		mondo.json		http://purl.obolibrary.org/obo/CL_2000057		
CL:2000052	biolink:Cell	umbilical artery endothelial cell	Any endothelial cell of artery that is part of a umbilical cord.		mondo.json		http://purl.obolibrary.org/obo/CL_2000052		
CL:2000051	biolink:Cell	splenic fibroblast	Any fibroblast that is part of a spleen.		mondo.json		http://purl.obolibrary.org/obo/CL_2000051		
CL:2000053	biolink:Cell	splenic endothelial cell	Any endothelial cell that is part of a spleen.		mondo.json		http://purl.obolibrary.org/obo/CL_2000053		
UBERON:0002340	biolink:AnatomicalEntity	epithelium of main bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002340		
CL:2000059	biolink:Cell	prostate gland microvascular endothelial cell	Any microvascular endothelial cell that is part of a prostate gland.		mondo.json		http://purl.obolibrary.org/obo/CL_2000059		
CHEBI:35757	biolink:ChemicalSubstance	monocarboxylic acid anion	A carboxylic acid anion formed when the carboxy group of a monocarboxylic acid is deprotonated.		mondo.json	Carboxylate|a monocarboxylate|Monocarboxylate|monocarboxylic acid anions|monocarboxylates	http://purl.obolibrary.org/obo/CHEBI_35757		
UBERON:0002346	biolink:AnatomicalEntity	neurectoderm			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002346		
UBERON:0002348	biolink:AnatomicalEntity	epicardium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002348		
UBERON:0002347	biolink:AnatomicalEntity	thoracic vertebra			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002347		
UBERON:0002342	biolink:AnatomicalEntity	neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002342		
UBERON:0002341	biolink:AnatomicalEntity	epithelium of segmental bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002341		
UBERON:0002343	biolink:AnatomicalEntity	abdomen musculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002343		
UBERON:0002328	biolink:AnatomicalEntity	notochord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002328		
UBERON:0004989	biolink:AnatomicalEntity	mucosa of appendix			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004989		
UBERON:0002329	biolink:AnatomicalEntity	somite			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002329		
GO:1900543	biolink:NamedThing	negative regulation of purine nucleotide metabolic process	Any process that stops, prevents or reduces the frequency, rate or extent of purine nucleotide metabolic process.		mondo.json	negative regulation of purine metabolic process|down-regulation of purine metabolic process|downregulation of purine metabolism|inhibition of purine metabolic process|down-regulation of purine nucleotide metabolic process|downregulation of purine nucleotide metabolism|inhibition of purine metabolism|downregulation of purine metabolic process|down regulation of purine nucleotide metabolic process|down-regulation of purine metabolism|negative regulation of purine metabolism|down regulation of purine nucleotide metabolism|down regulation of purine metabolic process|downregulation of purine nucleotide metabolic process|inhibition of purine nucleotide metabolism|inhibition of purine nucleotide metabolic process|down-regulation of purine nucleotide metabolism|down regulation of purine metabolism|negative regulation of purine nucleotide metabolism	http://purl.obolibrary.org/obo/GO_1900543		
CL:2000045	biolink:Cell	foreskin melanocyte	Any melanocyte that is part of a prepuce of penis.		mondo.json		http://purl.obolibrary.org/obo/CL_2000045		
GO:1900542	biolink:NamedThing	regulation of purine nucleotide metabolic process	Any process that modulates the frequency, rate or extent of purine nucleotide metabolic process.		mondo.json	regulation of purine metabolism|regulation of purine nucleotide metabolism|regulation of purine metabolic process	http://purl.obolibrary.org/obo/GO_1900542		
CL:2000044	biolink:Cell	brain microvascular endothelial cell	Any microvascular endothelial cell that is part of a brain.		mondo.json		http://purl.obolibrary.org/obo/CL_2000044		
GO:0044058	biolink:NamedThing	regulation of digestive system process	Any process that modulates the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism.		mondo.json		http://purl.obolibrary.org/obo/GO_0044058		
GO:1900544	biolink:NamedThing	positive regulation of purine nucleotide metabolic process	Any process that activates or increases the frequency, rate or extent of purine nucleotide metabolic process.		mondo.json	upregulation of purine metabolic process|up regulation of purine nucleotide metabolic process|positive regulation of purine nucleotide metabolism|up-regulation of purine metabolism|activation of purine nucleotide metabolic process|positive regulation of purine metabolic process|up regulation of purine nucleotide metabolism|up regulation of purine metabolism|up regulation of purine metabolic process|upregulation of purine nucleotide metabolic process|positive regulation of purine metabolism|up-regulation of purine nucleotide metabolism|up-regulation of purine metabolic process|activation of purine nucleotide metabolism|upregulation of purine metabolism|activation of purine metabolism|up-regulation of purine nucleotide metabolic process|upregulation of purine nucleotide metabolism|activation of purine metabolic process	http://purl.obolibrary.org/obo/GO_1900544		
CL:2000046	biolink:Cell	ventricular cardiac muscle cell	Any cardiac muscle cell that is part of a cardiac ventricle.		mondo.json		http://purl.obolibrary.org/obo/CL_2000046		
CL:2000041	biolink:Cell	dermis microvascular lymphatic vessel endothelial cell	Any dermis lymphatic vessel endothelial cell that is part of a microvascular endothelium.		mondo.json		http://purl.obolibrary.org/obo/CL_2000041		
CL:2000040	biolink:Cell	bladder microvascular endothelial cell	Any microvascular endothelial cell that is part of a urinary bladder.		mondo.json		http://purl.obolibrary.org/obo/CL_2000040		
GO:0044057	biolink:NamedThing	regulation of system process	Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by any of the organs or tissues in an organ system.		mondo.json		http://purl.obolibrary.org/obo/GO_0044057		
CL:2000043	biolink:Cell	brain pericyte	Any pericyte cell that is part of a brain.		mondo.json		http://purl.obolibrary.org/obo/CL_2000043		
CL:2000042	biolink:Cell	embryonic fibroblast	Any fibroblast that is part of a embryo.		mondo.json		http://purl.obolibrary.org/obo/CL_2000042		
UBERON:0004990	biolink:AnatomicalEntity	mucosa of ascending colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004990		
UBERON:0004991	biolink:AnatomicalEntity	mucosa of transverse colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004991		
UBERON:0004998	biolink:AnatomicalEntity	mucosa of pylorus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004998		
UBERON:0004999	biolink:AnatomicalEntity	mucosa of biliary tree			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004999		
CHEBI:176497	biolink:ChemicalSubstance	geroprotector	Any compound that supports healthy aging, slows the biological aging process, or extends lifespan.		mondo.json	anti-aging agent|anti-aging drugs|anti-aging drug|anti-aging agents|geroprotectors|geroprotective agents|geroprotective agent	http://purl.obolibrary.org/obo/CHEBI_176497		
UBERON:0002334	biolink:AnatomicalEntity	submandibular duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002334		
UBERON:0004996	biolink:AnatomicalEntity	mucosa of cardia of stomach			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004996		
UBERON:0002337	biolink:AnatomicalEntity	endometrial stroma			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002337		
UBERON:0002336	biolink:AnatomicalEntity	corpus callosum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002336		
UBERON:0004997	biolink:AnatomicalEntity	mucosa of pyloric antrum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004997		
UBERON:0004994	biolink:AnatomicalEntity	mucosa of fundus of stomach			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004994		
UBERON:0002331	biolink:AnatomicalEntity	umbilical cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002331		
UBERON:0004995	biolink:AnatomicalEntity	mucosa of body of stomach			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004995		
UBERON:0002330	biolink:AnatomicalEntity	exocrine system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002330		
UBERON:0004992	biolink:AnatomicalEntity	mucosa of descending colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004992		
UBERON:0002333	biolink:AnatomicalEntity	pulmonary trunk			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002333		
UBERON:0004993	biolink:AnatomicalEntity	mucosa of sigmoid colon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004993		
MONDO:0005527	biolink:Disease	toxic encephalopathy	A group of neurologic disorders caused by damage to the nervous system following exposure to pharmacologic, biologic, and chemical agents. Examples of neurotoxins include chemotherapy agents, radiation treatment, heavy metals, pesticides, and food additives.	SCTID:28394000|EFO:0005595|GARD:0007199|ICD9:349.82|ICD10CM:G92|DOID:3602|MESH:D020258|Wikipedia:Toxic_encephalopathy|NCIT:C27961	mondo.json	neurotoxicity syndrome|neurotoxicity syndromes|neurotoxicity	http://purl.obolibrary.org/obo/MONDO_0005527	DOID:3602|NCIT:C27961|http://identifiers.org/snomedct/28394000|http://identifiers.org/mesh/D020258|http://purl.bioontology.org/ontology/ICD10CM/G92	
UBERON:0014382	biolink:AnatomicalEntity	collection of hairs on head or neck			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014382		
MONDO:0005526	biolink:Disease	tetanus	A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites.	Orphanet:3299|DOID:11338|UMLS:C0039614|EFO:0005593|GARD:0005144|SCTID:276202003|NCIT:C85185|MedDRA:10043376|ICD9:037|MESH:D013742|SCTID:76902006	mondo.json	Clostridium tetani infectious disease of the nervous system|clostridial tetanus|infection due to Clostridium tetani|lockjaw|Clostridium tetani caused infectious disease of the nervous system	http://purl.obolibrary.org/obo/MONDO_0005526	NCIT:C85185|DOID:11338|Orphanet:3299|http://identifiers.org/snomedct/76902006|http://identifiers.org/snomedct/276202003|UMLS:C0039614|http://identifiers.org/mesh/D013742	gard_rare|ordo_disease
MONDO:0005529	biolink:Disease	obsolete methylmalonic aciduria and homocystinuria type cblG			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005529		
MONDO:0005528	biolink:Disease	inborn vitamin metabolic disorder	An inherited metabolic disease that is has its basis in the disruption of vitamin metabolic process.	EFO:0005596|DOID:0050718	mondo.json	inborn vitamin metabolic process disorder|inborn error of vitamin metabolic process|vitamin metabolic disorder|rare inborn error of vitamin metabolic process	http://purl.obolibrary.org/obo/MONDO_0005528	DOID:0050718	
GO:0044062	biolink:NamedThing	regulation of excretion	Any process that modulates the frequency, rate, or extent of excretion, the elimination by an organism of the waste products that arise as a result of metabolic activity.		mondo.json		http://purl.obolibrary.org/obo/GO_0044062		
UBERON:0014385	biolink:AnatomicalEntity	aryepiglottic fold			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014385		
MONDO:0005523	biolink:Disease	steroid inherited metabolic disorder	Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero.	UMLS:C1257809|EFO:0005590|MESH:D043202|DOID:1701	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005523	DOID:1701|UMLS:C1257809|http://identifiers.org/mesh/D043202	
GO:0044060	biolink:NamedThing	regulation of endocrine process	Any process that modulates the frequency, rate or extent of an endocrine process, a process involving the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system.		mondo.json	regulation of endocrine system process	http://purl.obolibrary.org/obo/GO_0044060		
MONDO:0005522	biolink:Disease	small intestine carcinoma	A carcinoma that arises from epithelial cells of the small intestine	NCIT:C7724|ONCOTREE:SIC|EFO:0005588|DOID:4907|SCTID:448664009	mondo.json	carcinoma of the small bowel|carcinoma of small bowel|small intestine cancer, NOS|cancer of the small bowel|small intestine carcinoma|carcinoma of the small intestine|small intestinal carcinoma|small bowel carcinoma|carcinoma of small intestine|small bowel cancer|small intestine cancer|small intestinal cancer|cancer of small bowel	http://purl.obolibrary.org/obo/MONDO_0005522	DOID:4907|NCIT:C7724|http://identifiers.org/snomedct/448664009	
MONDO:0005525	biolink:Disease	T-cell leukemia	A malignant disease of the T-lymphocytes in the bone marrow, thymus, and/or blood.	EFO:0005592|UMLS:C0023492|MESH:D015458|NCIT:C8694|DOID:715	mondo.json	leukemia (disease) of T cell|T cell leukemia (disease)	http://purl.obolibrary.org/obo/MONDO_0005525	http://identifiers.org/mesh/D015458|DOID:715|UMLS:C0023492	
MONDO:0005524	biolink:Disease	sweat gland carcinoma	A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma.	EFO:0005591|ICDO:8400/3|UMLS:C1412016|NCIT:C6938|ONCOTREE:AECA|DOID:5667	mondo.json	carcinoma, sweat gland, malignant|sweat gland carcinoma/apocrine eccrine carcinoma|carcinoma of the sweat gland|carcinoma of sweat gland|sweat gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0005524	NCIT:C6938|UMLS:C1412016|DOID:5667	
MONDO:0005521	biolink:Disease	obsolete shigellosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005521		
MONDO:0005520	biolink:Disease	rickets	Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities.	EFO:0005583|SCTID:41345002|UMLS:C0221468|UMLS:C0035579|DOID:10609|HP:0002748|ICD9:268.0|NCIT:C26878|GARD:0005700|MESH:D012279|SCTID:68295002	mondo.json	vitamin D deficiency disease|nutritional rickets|rachitis|vitamin D hydroxylation-deficient rickets|vitamin-D deficiency rickets|rickets|rickets (disease)|hypovitaminosis D|active rickets	http://purl.obolibrary.org/obo/MONDO_0005520	NCIT:C26878|DOID:10609|http://identifiers.org/snomedct/41345002|http://identifiers.org/mesh/D012279|UMLS:C0035579	gard_rare
MONDO:0017509	biolink:Disease	adactyly of foot, unilateral		Orphanet:295116	mondo.json	congenital absence of toes, unilateral	http://purl.obolibrary.org/obo/MONDO_0017509	Orphanet:295116	ordo_clinical_subtype
HP:0006817	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the cerebellar vermis	Absence or underdevelopment of the vermis of cerebellum.	UMLS:C1855676|UMLS:C3280770	mondo.json	Hypo/aplastic vermis|Cerebellar vermis aplasia/hypoplasia|Cerebellar vermis aplasia or hypoplasia	http://purl.obolibrary.org/obo/HP_0006817		
UBERON:0014387	biolink:AnatomicalEntity	mesenchyme derived from neural crest			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014387		
GO:0044065	biolink:NamedThing	regulation of respiratory system process	Any process that modulates the frequency, rate or extent of a respiratory system process, an organ system process carried out by any of the organs or tissues of the respiratory system.		mondo.json		http://purl.obolibrary.org/obo/GO_0044065		
UBERON:0014388	biolink:AnatomicalEntity	kidney collecting duct epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014388		
UBERON:0014389	biolink:AnatomicalEntity	gustatory papilla of tongue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014389		
MONDO:0017516	biolink:Disease	brachydactyly of fingers, bilateral		Orphanet:295130	mondo.json	short fingers, bilateral	http://purl.obolibrary.org/obo/MONDO_0017516	Orphanet:295130	ordo_clinical_subtype
MONDO:0017517	biolink:Disease	brachydactyly of toes, unilateral		Orphanet:295132	mondo.json	short toes, unilateral	http://purl.obolibrary.org/obo/MONDO_0017517	Orphanet:295132	ordo_clinical_subtype
MONDO:0017518	biolink:Disease	brachydactyly of toes, bilateral		Orphanet:295134	mondo.json	short toes, bilateral	http://purl.obolibrary.org/obo/MONDO_0017518	Orphanet:295134	ordo_clinical_subtype
MONDO:0017519	biolink:Disease	symbrachydactyly of hand and foot, unilateral		UMLS:CN203252|Orphanet:295136	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017519	UMLS:CN203252|Orphanet:295136	ordo_clinical_subtype
MONDO:0017512	biolink:Disease	split hand, bilateral	Split hand, bilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.	Orphanet:295122	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017512	Orphanet:295122	ordo_clinical_subtype
MONDO:0017513	biolink:Disease	split foot, unilateral		Orphanet:295124	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017513	Orphanet:295124	ordo_clinical_subtype
MONDO:0017514	biolink:Disease	split foot, bilateral		Orphanet:295126|ICD10CM:Q72.73	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017514	http://purl.bioontology.org/ontology/ICD10CM/Q72.73|Orphanet:295126	ordo_clinical_subtype
MONDO:0017515	biolink:Disease	brachydactyly of fingers, unilateral		Orphanet:295128	mondo.json	short fingers, unilateral	http://purl.obolibrary.org/obo/MONDO_0017515	Orphanet:295128	ordo_clinical_subtype
MONDO:0017510	biolink:Disease	adactyly of foot, bilateral		Orphanet:295118	mondo.json	congenital absence of toes, bilateral	http://purl.obolibrary.org/obo/MONDO_0017510	Orphanet:295118	ordo_clinical_subtype
MONDO:0017511	biolink:Disease	split hand, unilateral	Split hand, unilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by unilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.	Orphanet:295120	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017511	Orphanet:295120	ordo_clinical_subtype
MONDO:0005519	biolink:Disease	renal pelvis carcinoma	A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas.	NCIT:C6142|UMLS:C1335749|EFO:0005582|DOID:4919|ICD10CM:C65|ICD9:189.1|SCTID:363457009|UMLS:C0153618	mondo.json	carcinoma of kidney pelvis|malignant renal pelvis neoplasm|kidney pelvis carcinoma|malignant neoplasm of renal pelvis|carcinoma of renal pelvis|cancer of renal pelvis|carcinoma of the renal pelvis|kidney renal pelvis cancer|carcinoma of the kidney pelvis|renal pelvis carcinoma|renal pelvis cancer	http://purl.obolibrary.org/obo/MONDO_0005519	http://purl.bioontology.org/ontology/ICD10CM/C65|NCIT:C6142|DOID:4919|http://identifiers.org/snomedct/363457009|UMLS:C1335749|UMLS:C0153618	
UBERON:0014371	biolink:AnatomicalEntity	future telencephalon			mondo.json		http://purl.obolibrary.org/obo/UBERON_0014371		
MONDO:0005538	biolink:Disease	proctitis	An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease.	SCTID:3951002|NCIT:C38011|EFO:0005628|UMLS:C0033246|MESH:D011349|ICD9:569.49|DOID:3127	mondo.json	rectitis|anus inflammation|inflammation of anus	http://purl.obolibrary.org/obo/MONDO_0005538	NCIT:C38011|UMLS:C0033246|DOID:3127|http://identifiers.org/snomedct/3951002|http://identifiers.org/mesh/D011349	
MONDO:0005537	biolink:Disease	perianal Crohn disease	An Crohn disease involving a pathogenic inflammatory response in the anal canal.	EFO:0005627|UMLS:C0341395|SCTID:235796008	mondo.json	perianal Crohn's disease	http://purl.obolibrary.org/obo/MONDO_0005537	http://identifiers.org/snomedct/235796008|UMLS:C0341395	
MONDO:0005539	biolink:Disease	small bowel Crohn disease	An Crohn disease involving a pathogenic inflammatory response in the small intestine.	EFO:0005629	mondo.json	small bowel Crohn's disease	http://purl.obolibrary.org/obo/MONDO_0005539		
CHR:9606-chrM	biolink:NamedThing	chromosome M (Human)			mondo.json	MT	http://purl.obolibrary.org/obo/CHR_9606-chrM	http://identifiers.org/insdc/J01415.2|http://identifiers.org/refseq/NC_012920.1	
GO:0044070	biolink:NamedThing	regulation of anion transport	Any process that modulates the frequency, rate or extent of the directed movement of anions, atoms or small molecules with a net negative charge into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0044070		
MONDO:0005534	biolink:Disease	ileocolitis	Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon.	MedDRA:10062647|EFO:0005624|UMLS:C0949272|DOID:0060190	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005534	UMLS:C0949272|DOID:0060190	
MONDO:0005533	biolink:Disease	distal colitis	Particular variety of ulcerative colitis where only the left half of the colon is inflamed.	UMLS:C0860168|EFO:0005623|ICD9:558.9|SCTID:373639002	mondo.json	left colon inflammation|inflammation of left colon	http://purl.obolibrary.org/obo/MONDO_0005533	http://identifiers.org/snomedct/373639002|UMLS:C0860168	
MONDO:0005536	biolink:Disease	pancolitis	Ulcerative colitis that involves the entire colon.	EFO:0005626	mondo.json	pan-ulcerative colitis|universal colitis	http://purl.obolibrary.org/obo/MONDO_0005536		
MONDO:0005535	biolink:Disease	oral Crohn disease	Crohn's disease affecting the mouth.	EFO:0005625|UMLS:C0399497|SCTID:196578009	mondo.json	oral Crohn's disease	http://purl.obolibrary.org/obo/MONDO_0005535	UMLS:C0399497|http://identifiers.org/snomedct/196578009	
MONDO:0005530	biolink:Disease	opiate dependence	Disorders related or resulting from abuse or mis-use of opioids.	ICD9:304.0|EFO:0005611|MESH:D009293|ICD9:304.00|DOID:2559|SCTID:75544000	mondo.json	narcotism|opioid dependence|opioid type dependence	http://purl.obolibrary.org/obo/MONDO_0005530	http://identifiers.org/mesh/D009293|http://identifiers.org/snomedct/75544000|DOID:2559	
MONDO:0005532	biolink:Disease	Crohn's colitis	Crohn's disease affecting the colon.	ICD9:555.1|EFO:0005622|NCIT:C35211|DOID:0060192	mondo.json	Crohn colitis	http://purl.obolibrary.org/obo/MONDO_0005532	NCIT:C35211|DOID:0060192	
MONDO:0005531	biolink:Disease	morphine dependence	Strong dependence, both physiological and emotional, upon morphine.	SCTID:231479000|MESH:D009021|DOID:2560|EFO:0005612	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005531	http://identifiers.org/mesh/D009021|http://identifiers.org/snomedct/231479000|DOID:2560	
CHEBI:35740	biolink:ChemicalSubstance	liposaccharide			mondo.json	liposaccharides	http://purl.obolibrary.org/obo/CHEBI_35740		
MONDO:0017505	biolink:Disease	apodia, bilateral		Orphanet:295107	mondo.json	congenital absence of foot, bilateral	http://purl.obolibrary.org/obo/MONDO_0017505	Orphanet:295107	ordo_clinical_subtype
UBERON:0002393	biolink:AnatomicalEntity	pharyngotympanic tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002393		
MONDO:0017506	biolink:Disease	congenital absence/hypoplasia of thumb, unilateral	Congenital absence/hypoplasia of thumb, unilateral is a rare developmental defect during embryogenesis characterized by the unilateral underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb.	Orphanet:295110	mondo.json	thumb hypodactyly, unilateral|thumb oligodactyly, unilateral	http://purl.obolibrary.org/obo/MONDO_0017506	Orphanet:295110	ordo_clinical_subtype
UBERON:0002392	biolink:AnatomicalEntity	nasolacrimal duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002392		
MONDO:0017507	biolink:Disease	congenital absence/hypoplasia of thumb, bilateral	Congenital absence/hypoplasia of thumb, bilateral is a rare developmental defect during embryogenesis characterized by bilateral underdevelopment of the thumbs, ranging from a slight decrease in thumb size to complete absence of the thumbs. This anomaly counts for 20-60% of thumb hypoplasias.	Orphanet:295112	mondo.json	thumb oligodactyly, bilateral|thumb hypodactyly, bilateral	http://purl.obolibrary.org/obo/MONDO_0017507	Orphanet:295112	ordo_clinical_subtype
MONDO:0017508	biolink:Disease	congenital absence/hypoplasia of fingers excluding thumb, bilateral		Orphanet:295114	mondo.json	digits 2-5 hypodactyly, bilateral|Adactyly of hand, bilateral|digits 2-5 oligodactyly, bilateral	http://purl.obolibrary.org/obo/MONDO_0017508	Orphanet:295114	ordo_clinical_subtype
UBERON:0002394	biolink:AnatomicalEntity	bile duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002394		
MONDO:0017501	biolink:Disease	congenital absence of both lower leg and foot, bilateral		ICD10CM:Q72.23|Orphanet:295099	mondo.json	tibiofibular terminal transverse meromelia, bilateral	http://purl.obolibrary.org/obo/MONDO_0017501	http://purl.bioontology.org/ontology/ICD10CM/Q72.23|Orphanet:295099	ordo_clinical_subtype
MONDO:0017502	biolink:Disease	acheiria, unilateral		Orphanet:295101	mondo.json	congenital absence of hand, unilateral	http://purl.obolibrary.org/obo/MONDO_0017502	Orphanet:295101	ordo_clinical_subtype
MONDO:0017503	biolink:Disease	acheiria, bilateral		Orphanet:295103|SCTID:371189003	mondo.json	congenital absence of hand, bilateral	http://purl.obolibrary.org/obo/MONDO_0017503	Orphanet:295103|http://identifiers.org/snomedct/371189003	ordo_clinical_subtype
UBERON:0002391	biolink:AnatomicalEntity	lymph			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002391		
UBERON:0002390	biolink:AnatomicalEntity	hematopoietic system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002390		
MONDO:0017504	biolink:Disease	apodia, unilateral		Orphanet:295105	mondo.json	congenital absence of foot, unilateral	http://purl.obolibrary.org/obo/MONDO_0017504	Orphanet:295105	ordo_clinical_subtype
CHR:9606-chrY	biolink:NamedThing	chromosome Y (Human)			mondo.json	Y	http://purl.obolibrary.org/obo/CHR_9606-chrY	http://identifiers.org/refseq/NC_000024.10|http://identifiers.org/insdc/CM000686.2	
MONDO:0017500	biolink:Disease	congenital absence of both lower leg and foot, unilateral		Orphanet:295097	mondo.json	tibiofibular terminal transverse meromelia, unilateral	http://purl.obolibrary.org/obo/MONDO_0017500	Orphanet:295097	ordo_clinical_subtype
UBERON:0002397	biolink:AnatomicalEntity	maxilla			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002397		
GO:0093001	biolink:NamedThing	glycolysis from storage polysaccharide through glucose-1-phosphate	The chemical reactions and pathways resulting in the breakdown of a storage polysaccharide into pyruvate through a glucose-1-phosphate intermediate, with the concomitant production of a small amount of ATP and the reduction of NAD to NADH.		mondo.json		http://purl.obolibrary.org/obo/GO_0093001		
rdfs:seeAlso	biolink:NamedThing	seeAlso		http://www.w3.org/2000/01/rdf-schema#seeAlso	mondo.json		http://www.w3.org/2000/01/rdf-schema#seeAlso		
CHR:9606-chrX	biolink:NamedThing	chromosome X (Human)			mondo.json	X	http://purl.obolibrary.org/obo/CHR_9606-chrX	http://identifiers.org/insdc/CM000685.2|http://identifiers.org/refseq/NC_000023.11	
UBERON:0002398	biolink:AnatomicalEntity	manus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002398		
GO:0044085	biolink:NamedThing	cellular component biogenesis	A process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. Includes biosynthesis of constituent macromolecules, and those macromolecular modifications that are involved in synthesis or assembly of the cellular component.		mondo.json	cellular component biogenesis at cellular level	http://purl.obolibrary.org/obo/GO_0044085		
MONDO:0005505	biolink:Disease	dysembryoplastic neuroepithelial tumor	A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface.B	GARD:0010640|ICDO:9413/0|EFO:0005551|Orphanet:251946|SCTID:87211000119104|NCIT:C9505|ONCOTREE:DNT|DOID:2679|UMLS:C1266177	mondo.json	dysembryoplastic neuroepithelial neoplasm|dysembryoplastic neuroepithelial tumor (morphologic abnormality)|DNET|DNT	http://purl.obolibrary.org/obo/MONDO_0005505	http://identifiers.org/snomedct/87211000119104|DOID:2679|Orphanet:251946|UMLS:C1266177|NCIT:C9505	ordo_disease|gard_rare
CHR:9606-chr1	biolink:NamedThing	chromosome 1 (Human)			mondo.json	1	http://purl.obolibrary.org/obo/CHR_9606-chr1	http://identifiers.org/refseq/NC_000001.11|http://identifiers.org/insdc/CM000663.2	
MONDO:0005504	biolink:Disease	diphtheria	A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects.	SCTID:397428000|ICD9:032|UMLS:C0012546|MedDRA:10013023|NCIT:C34541|DOID:11405|ICD10CM:A36|ICD10CM:A36.3|Orphanet:1679|MESH:D004165|EFO:0005549|ICD9:032.9|GARD:0001875	mondo.json	Corynebacterium infection	http://purl.obolibrary.org/obo/MONDO_0005504	UMLS:C0012546|http://identifiers.org/mesh/D004165|DOID:11405|http://identifiers.org/snomedct/397428000|http://purl.bioontology.org/ontology/ICD10CM/A36|NCIT:C34541|Orphanet:1679	ordo_disease|gard_rare
CHR:9606-chr2	biolink:NamedThing	chromosome 2 (Human)			mondo.json	2	http://purl.obolibrary.org/obo/CHR_9606-chr2	http://identifiers.org/refseq/NC_000002.12|http://identifiers.org/insdc/CM000664.2	
MONDO:0005507	biolink:Disease	gingival cancer	A primary or metastatic malignant neoplasm that affects the gums.	EFO:0005557|UMLS:C0153364|MedDRA:10067807|NCIT:C9317|SCTID:363382005|ICD9:143.9|ICD9:143|ICD9:143.8|DOID:8602	mondo.json	malignant tumour of gingiva|malignant gingival neoplasm|malignant tumor of the gingiva|malignant tumor of gingiva|gingiva cancer|gum cancer|malignant neoplasm of gum|malignant neoplasm of other sites of gum|cancer of gingiva|malignant gingival tumor|malignant gingiva neoplasm|malignant neoplasm of the gum|malignant gum tumor|malignant neoplasm of gingiva|malignant tumor of the gum|malignant neoplasm of the gingiva|malignant gum neoplasm|malignant tumor of gum	http://purl.obolibrary.org/obo/MONDO_0005507	UMLS:C0153364|http://identifiers.org/snomedct/363382005|DOID:8602|NCIT:C9317	
CHR:9606-chr3	biolink:NamedThing	chromosome 3 (Human)			mondo.json	3	http://purl.obolibrary.org/obo/CHR_9606-chr3	http://identifiers.org/refseq/NC_000003.12|http://identifiers.org/insdc/CM000665.2	
CHR:9606-chr4	biolink:NamedThing	chromosome 4 (Human)			mondo.json	4	http://purl.obolibrary.org/obo/CHR_9606-chr4	http://identifiers.org/refseq/NC_000004.12|http://identifiers.org/insdc/CM000666.2	
MONDO:0005506	biolink:Disease	eccrine sweat gland cancer	An cancer with eccrine differentiation arising from the sweat glands.B	NCIT:C5559|EFO:0005553|UMLS:C1334577|DOID:4921	mondo.json	malignant eccrine neoplasm of skin|malignant eccrine neoplasm of the skin|malignant eccrine skin tumor|malignant eccrine tumor of skin|malignant eccrine tumor of the skin|eccrine sweat gland cancer|malignant eccrine neoplasm|cancer of eccrine sweat gland|malignant eccrine sweat gland neoplasm|malignant eccrine tumor|malignant eccrine skin neoplasm|malignant neoplasm of eccrine sweat gland	http://purl.obolibrary.org/obo/MONDO_0005506	DOID:4921|NCIT:C5559|UMLS:C1334577	
MONDO:0005501	biolink:Disease	congenital disorder of glycosylation type II	A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain.	MESH:C535747|EFO:0005546|DOID:0050571|OMIMPS:212066	mondo.json	MGAT2-CDG|MGAT2-CDG (CDG-2a)|MOGS-CDG|B4GALT1-CDG|congenital disorders of glycosylation, type II|congenital disorder of glycosylation type II|MOGS-CDG (CDG-2b)|B4GALT1-CDG (CDG-2d)	http://purl.obolibrary.org/obo/MONDO_0005501	http://identifiers.org/mesh/C535747|https://omim.org/phenotypicSeries/PS212066|DOID:0050571	
MONDO:0005500	biolink:Disease	congenital disorder of glycosylation type I	A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.	OMIMPS:212065|EFO:0005545|DOID:0050570	mondo.json	MPDU1-CDG (CDG-1f)|PMM2-CDG (CDG-1a)|MPI-CDG|SRD5A3-CDG (CDG-1q)|ALG2-CDG|ALG12-CDG (CDG-1g)|ALG1-CDG|ALG8-CDG (CDG-1h)|DPM1-CDG (CDG-1e)|DPM2-CDG (CDG-1u)|DOLK-CDG (CDG-1m)|DPM3-CDG|PMM2-CDG|SRD5A3-CDG|RFT1-CDG|DPM2-CDG|MPI-CDG (CDG-1b)|DPM1-CDG|congenital disorders of glycosylation, type I|DPAGT1-CDG (CDG-1j)|ALG9-CDG (CDG-1l)|DPAGT1-CDG|ALG3-CDG (CDG-1d)|MPDU1-CDG|ALG12-CDG|ALG11-CDG (CDG-1p)|ALG9-CDG|ALG11-CDG|ALG8-CDG|ALG6-CDG (CDG-1c)|ALG2-CDG (CDG-1i)|ALG6-CDG|DOLK-CDG|RFT1-CDG (CDG-1n)|ALG1-CDG (CDG-1k)|DPM3-CDG (CDG-1o)|ALG3-CDG	http://purl.obolibrary.org/obo/MONDO_0005500	https://omim.org/phenotypicSeries/PS212065|DOID:0050570	
MONDO:0005503	biolink:Disease	developmental disorder of mental health	A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.	ICD9:315.8|SCTID:129104009|DOID:0060037|EFO:0005548	mondo.json	developmental mental disorder|developmental disorder of mental health	http://purl.obolibrary.org/obo/MONDO_0005503	DOID:0060037|http://identifiers.org/snomedct/129104009	
MONDO:0005502	biolink:Disease	dengue disease	Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS).	MESH:D003715|GARD:0006254|ICD9:061|NCIT:C34528|Orphanet:99828|UMLS:C0011311|DOID:12205|EFO:0005547|OMIM:614371|SCTID:38362002|MedDRA:10012310	mondo.json	Dengue virus infectious disease|Dengue virus caused disease or disorder|Dengue|Dengue fever|break bone fever|Thai hemorrhagic fever|classical dengue|classic dengue|DF|breakbone fever|hemorrhagic dengue|Singapore hemorrhagic fever|Dengue virus infection|Dengue virus disease or disorder|Philippine hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0005502	UMLS:C0011311|http://identifiers.org/snomedct/38362002|DOID:12205|http://identifiers.org/mesh/D003715|Orphanet:99828|NCIT:C34528	ordo_disease
CL:2000012	biolink:Cell	fibroblast of pedal digit skin	Any skin fibroblast that is part of a pedal digit skin.		mondo.json		http://purl.obolibrary.org/obo/CL_2000012		
CL:2000011	biolink:Cell	dermis lymphatic vessel endothelial cell	Any endothelial cell of lymphatic vessel that is part of a dermis.		mondo.json		http://purl.obolibrary.org/obo/CL_2000011		
CL:2000014	biolink:Cell	fibroblast of upper leg skin	Any skin fibroblast that is part of a upper leg skin.		mondo.json		http://purl.obolibrary.org/obo/CL_2000014		
CL:2000013	biolink:Cell	fibroblast of skin of abdomen	Any skin fibroblast that is part of a skin of abdomen.		mondo.json		http://purl.obolibrary.org/obo/CL_2000013		
GO:0044089	biolink:NamedThing	positive regulation of cellular component biogenesis	Any process that activates or increases the frequency, rate or extent of cellular component biogenesis, a process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component.		mondo.json		http://purl.obolibrary.org/obo/GO_0044089		
CHEBI:35718	biolink:ChemicalSubstance	antifungal agent	An  antimicrobial agent that destroys fungi by suppressing their ability to grow or reproduce.		mondo.json	antifungals|antifungal drug|antifungal agents|antifungal drugs|antifungal	http://purl.obolibrary.org/obo/CHEBI_35718		
CL:2000010	biolink:Cell	dermis blood vessel endothelial cell	Any blood vessel endothelial cell that is part of a dermis.		mondo.json		http://purl.obolibrary.org/obo/CL_2000010		
GO:0044087	biolink:NamedThing	regulation of cellular component biogenesis	Any process that modulates the frequency, rate or extent of cellular component biogenesis, a process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component.		mondo.json		http://purl.obolibrary.org/obo/GO_0044087		
UBERON:0002384	biolink:AnatomicalEntity	connective tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002384		
CL:2000016	biolink:Cell	lung microvascular endothelial cell	Any lung endothelial cell that is part of a microvascular endothelium.		mondo.json		http://purl.obolibrary.org/obo/CL_2000016		
CL:2000015	biolink:Cell	fibroblast of arm	Any skin fibroblast that is part of a arm.		mondo.json		http://purl.obolibrary.org/obo/CL_2000015		
CL:2000018	biolink:Cell	endothelial cell of coronary artery	Any endothelial cell of artery that is part of a coronary artery.		mondo.json		http://purl.obolibrary.org/obo/CL_2000018		
UBERON:0002380	biolink:AnatomicalEntity	trapezius muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002380		
CL:2000017	biolink:Cell	fibroblast of peridontal ligament	Any fibroblast that is part of a periodontal ligament.		mondo.json		http://purl.obolibrary.org/obo/CL_2000017		
CHR:9606-chr9	biolink:NamedThing	chromosome 9 (Human)			mondo.json	9	http://purl.obolibrary.org/obo/CHR_9606-chr9	http://identifiers.org/refseq/NC_000009.12|http://identifiers.org/insdc/CM000671.2	
UBERON:0002389	biolink:AnatomicalEntity	manual digit			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002389		
CHR:9606-chr5	biolink:NamedThing	chromosome 5 (Human)			mondo.json	5	http://purl.obolibrary.org/obo/CHR_9606-chr5	http://identifiers.org/insdc/CM000667.2|http://identifiers.org/refseq/NC_000005.10	
UBERON:0002386	biolink:AnatomicalEntity	forelimb zeugopod			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002386		
CHR:9606-chr6	biolink:NamedThing	chromosome 6 (Human)			mondo.json	6	http://purl.obolibrary.org/obo/CHR_9606-chr6	http://identifiers.org/insdc/CM000668.2|http://identifiers.org/refseq/NC_000006.12	
UBERON:0002385	biolink:AnatomicalEntity	muscle tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002385		
CHR:9606-chr7	biolink:NamedThing	chromosome 7 (Human)			mondo.json	7	http://purl.obolibrary.org/obo/CHR_9606-chr7	http://identifiers.org/insdc/CM000669.2|http://identifiers.org/refseq/NC_000007.14	
UBERON:0002387	biolink:AnatomicalEntity	pes			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002387		
CHR:9606-chr8	biolink:NamedThing	chromosome 8 (Human)			mondo.json	8	http://purl.obolibrary.org/obo/CHR_9606-chr8	http://identifiers.org/refseq/NC_000008.11|http://identifiers.org/insdc/CM000670.2	
MONDO:0005516	biolink:Disease	osteochondrodysplasia	A term referring to disorders characterized by abnormalities in the development of bones and cartilage.	NCIT:C84978|GARD:0006051|DOID:2256|ICD9:756.4|SCTID:105985007|UMLS:C0029422|EFO:0005571|MESH:D010009	mondo.json	osteochondrodysplasia|congenital anomaly of cartilage|osteochondrodysplasia syndrome|congenital skeletal dysplasia|cartilage development disorder|skeletal dysplasia	http://purl.obolibrary.org/obo/MONDO_0005516	http://identifiers.org/mesh/D010009|DOID:2256|UMLS:C0029422|NCIT:C84978|http://identifiers.org/snomedct/105985007	
MONDO:0005515	biolink:Disease	oral cavity cancer	A primary or metastatic malignant neoplasm involving the oral cavity. The majority are squamous cell carcinomas.	NCIT:C9314|SCTID:363505006|ICD9:149.8|ICD9:144.9|EFO:0005570|ICD9:145.8|ICD9:145.9|ICD9:144|SCTID:363385007|ICD9:144.1|ICD9:144.0|DOID:8618	mondo.json	malignant neoplasm of lateral floor of mouth|malignant tumor of the mouth|malignant mouth neoplasm|oral cavity cancer|malignant tumor of mouth|malignant tumor of anterior floor of mouth|malignant tumor of lateral floor of mouth|malignant neoplasm of anterior portion of floor of mouth|malignant tumor of the floor of the mouth|cancer of oral cavity|malignant neoplasm of lateral portion of floor of mouth|malignant neoplasm of floor of mouth|mouth cancer|malignant neoplasm of the mouth|malignant tumor of oral cavity|malignant oral cavity tumor|malignant neoplasm of mouth|malignant mouth tumor|malignant neoplasm of oral cavity|malignant oral cavity neoplasm	http://purl.obolibrary.org/obo/MONDO_0005515	http://identifiers.org/snomedct/363505006|DOID:8618|NCIT:C9314	
GO:0071692	biolink:NamedThing	protein localization to extracellular region	Any process in which a protein is transported from one specific location in the extracellular region to another, or maintained in a specific extracellular location.		mondo.json	protein localization in extracellular region|protein localisation in extracellular region	http://purl.obolibrary.org/obo/GO_0071692		
MONDO:0005518	biolink:Disease	pseudohermaphroditism	A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex.	Wikipedia:Pseudohermaphroditism|SCTID:75164001|DOID:3765|ICD9:752.7|NCIT:C124575|ICD10CM:Q56.3|ICD10CM:Q56|EFO:0005579	mondo.json	indeterminate sex and pseudohermaphroditism	http://purl.obolibrary.org/obo/MONDO_0005518	DOID:3765|NCIT:C124575|http://purl.bioontology.org/ontology/ICD10CM/Q56.3|http://identifiers.org/snomedct/75164001	
MONDO:0005517	biolink:Disease	pharynx cancer	A primary or metastatic malignant neoplasm that affects the pharynx.	EFO:0005577|DOID:0060119|NCIT:C7545|MESH:D010610	mondo.json	malignant tumor of the pharynx|malignant tumor of pharynx|pharyngeal cancer|malignant pharynx neoplasm|cancer of pharynx|malignant neoplasm of chordate pharynx|pharynx cancer|pharynx neoplasm|malignant pharyngeal neoplasm|pharyngeal neoplasm|malignant pharynx tumor|malignant neoplasm of pharynx|cancer of chordate pharynx|malignant pharyngeal tumor|chordate pharynx cancer|malignant chordate pharynx neoplasm	http://purl.obolibrary.org/obo/MONDO_0005517	NCIT:C7545|DOID:0060119|http://identifiers.org/mesh/D010610	
MONDO:0005512	biolink:Disease	malignant peritoneal mesothelioma	An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites.	DOID:1788|NCIT:C8704|MedDRA:10056558|Orphanet:168811|EFO:0005567	mondo.json	advanced malignant mesothelioma of the peritoneum|diffuse malignant peritoneal mesothelioma|malignant peritoneal mesothelioma, advanced|primary malignant peritoneal mesothelioma|advanced malignant peritoneal mesothelioma|advanced peritoneal malignant mesothelioma|peritoneal mesothelioma|peritoneal mesothelioma (disease), malignant|malignant mesothelioma of peritoneum|advanced malignant mesothelioma of peritoneum|malignant mesothelioma (disease) of peritoneum|peritoneum malignant mesothelioma (disease)	http://purl.obolibrary.org/obo/MONDO_0005512	DOID:1788|Orphanet:168811|NCIT:C8704	ordo_disease
GO:0044092	biolink:NamedThing	negative regulation of molecular function	Any process that stops or reduces the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding.		mondo.json		http://purl.obolibrary.org/obo/GO_0044092		
GO:0044093	biolink:NamedThing	positive regulation of molecular function	Any process that activates or increases the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding.		mondo.json		http://purl.obolibrary.org/obo/GO_0044093		
MONDO:0005511	biolink:Disease	janus kinase-3 deficiency	Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency.	DOID:0060008|Wikipedia:Janus_kinase_3_deficiency|EFO:0005565	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005511	DOID:0060008	
MONDO:0005514	biolink:Disease	nanophthalmia	Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.	DOID:0080634|OMIMPS:600165|Orphanet:35612|SCTID:716775009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005514	https://omim.org/phenotypicSeries/PS600165|Orphanet:35612|http://identifiers.org/snomedct/716775009|DOID:0080634	ordo_malformation_syndrome
MONDO:0005513	biolink:Disease	obsolete methylmalonic aciduria and homocystinuria type cblE			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005513		
CL:2000001	biolink:Cell	peripheral blood mononuclear cell	A leukocyte with a single non-segmented nucleus in the mature form found in the circulatory pool of blood.		mondo.json		http://purl.obolibrary.org/obo/CL_2000001		
CL:2000000	biolink:Cell	epidermal melanocyte	Any melanocyte that is part of a epidermis.		mondo.json		http://purl.obolibrary.org/obo/CL_2000000		
MONDO:0005510	biolink:Disease	hydronephrosis	Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria.	NCIT:C26796|EFO:0005562|DOID:11111|SCTID:43064006|ICD9:591|UMLS:C0020295|MESH:D006869	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005510	DOID:11111|http://identifiers.org/mesh/D006869|NCIT:C26796|UMLS:C0020295|http://identifiers.org/snomedct/43064006	
UBERON:0002371	biolink:AnatomicalEntity	bone marrow			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002371		
CL:2000008	biolink:Cell	microvascular endothelial cell	Any blood vessel endothelial cell that is part of a microvascular endothelium.		mondo.json		http://purl.obolibrary.org/obo/CL_2000008		
UBERON:0002370	biolink:AnatomicalEntity	thymus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002370		
UBERON:0002373	biolink:AnatomicalEntity	palatine tonsil			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002373		
UBERON:0002372	biolink:AnatomicalEntity	tonsil			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002372		
CHEBI:35722	biolink:ChemicalSubstance	sulfated glycosaminoglycan			mondo.json	sulfated glycosaminoglycans|glycosaminoglycan sulfate|glycosaminoglycan sulfates	http://purl.obolibrary.org/obo/CHEBI_35722		
CL:2000005	biolink:Cell	brain macroglial cell	Any macroglial cell that is part of a brain.		mondo.json		http://purl.obolibrary.org/obo/CL_2000005		
CL:2000004	biolink:Cell	pituitary gland cell	Any cell that is part of a pituitary gland.		mondo.json		http://purl.obolibrary.org/obo/CL_2000004		
CL:2000007	biolink:Cell	articular chondrocyte of knee joint	Chondrocyte forming the hyaline cartilage found in the knee joint.		mondo.json		http://purl.obolibrary.org/obo/CL_2000007		
CHEBI:35724	biolink:ChemicalSubstance	carbohydrate sulfate			mondo.json	carbohydrate sulfates|carbohydrate sulphates	http://purl.obolibrary.org/obo/CHEBI_35724		
UBERON:0002378	biolink:AnatomicalEntity	muscle of abdomen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002378		
MONDO:0005509	biolink:Disease	histiocytoma	A mesenchymal tumor composed of fibroblastic and histiocytic cells.	NCIT:C35765|MESH:D051642|ICDO:8831/0|EFO:0005561|DOID:4231|UMLS:C1509147	mondo.json	histiocytoma	http://purl.obolibrary.org/obo/MONDO_0005509	NCIT:C35765|DOID:4231|http://identifiers.org/mesh/D051642|UMLS:C1509147	
MONDO:0005508	biolink:Disease	hereditary multiple osteochondromas	A bone neoplasm characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.	MESH:D005097|UMLS:CN204014|DOID:206|NCIT:C5183|Orphanet:321|EFO:0005560|GARD:0007035|SCTID:716742001|SCTID:254044004|UMLS:C0206641	mondo.json	multiple cartilaginous exostoses|multiple exostoses|multiple congenital exostosis|EXT|hereditary multiple exostoses 3|HMO|hereditary multiple exostoses 2|hereditary multiple exostoses 1|multiple exostosis syndromes|hereditary multiple exostoses|osteochondromatosis syndrome (disorder) [ambiguous]|multiple ostechondromas|osteochondromatosis syndrome|Bessel-Hagen disease|exostoses, multiple|hereditary multiple exostosis	http://purl.obolibrary.org/obo/MONDO_0005508	Orphanet:321|http://identifiers.org/snomedct/716742001|http://identifiers.org/snomedct/254044004|http://identifiers.org/mesh/D005097|NCIT:C5183|UMLS:CN204014|DOID:206	ordo_disease|gard_rare
GO:0071696	biolink:NamedThing	ectodermal placode development	The progression of an ectodermal placode over time from its initial formation until its mature state. An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm.		mondo.json		http://purl.obolibrary.org/obo/GO_0071696		
UBERON:0002374	biolink:AnatomicalEntity	metacarpal bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002374		
GO:0071695	biolink:NamedThing	anatomical structure maturation	A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure to attain its fully functional state.		mondo.json		http://purl.obolibrary.org/obo/GO_0071695		
UBERON:0002377	biolink:AnatomicalEntity	muscle of neck			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002377		
UBERON:0002376	biolink:AnatomicalEntity	cranial muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002376		
SO:0001254	biolink:SequenceFeature	polyploid	A kind of chromosome variation where the chromosome complement is an exact multiple of the haploid number and is greater than the diploid number.		mondo.json		http://purl.obolibrary.org/obo/SO_0001254		
HGNC:757	biolink:NamedThing	ASPH			mondo.json		http://identifiers.org/hgnc/757		
HGNC:756	biolink:NamedThing	ASPA			mondo.json		http://identifiers.org/hgnc/756		
HGNC:753	biolink:NamedThing	ASNS			mondo.json		http://identifiers.org/hgnc/753		
GO:0010888	biolink:NamedThing	negative regulation of lipid storage	Any process that decreases the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development.		mondo.json		http://purl.obolibrary.org/obo/GO_0010888		
GO:0010889	biolink:NamedThing	regulation of sequestering of triglyceride	Any process that modulates the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system.		mondo.json	regulation of triacylglycerol sequestration|regulation of sequestering of triacylglycerol	http://purl.obolibrary.org/obo/GO_0010889		
GO:0009891	biolink:NamedThing	positive regulation of biosynthetic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances.		mondo.json	up regulation of biosynthetic process|stimulation of biosynthetic process|activation of biosynthetic process|up-regulation of biosynthetic process|positive regulation of anabolism|upregulation of biosynthetic process|positive regulation of synthesis|positive regulation of formation|positive regulation of biosynthesis	http://purl.obolibrary.org/obo/GO_0009891		
GO:0009892	biolink:NamedThing	negative regulation of metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism.		mondo.json	down regulation of metabolic process|negative regulation of multicellular organismal metabolic process|inhibition of organismal metabolic process|negative regulation of organismal metabolism|downregulation of metabolic process|inhibition of metabolic process|negative regulation of metabolism|down-regulation of metabolic process	http://purl.obolibrary.org/obo/GO_0009892		
GO:0009893	biolink:NamedThing	positive regulation of metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism.		mondo.json	upregulation of metabolic process|positive regulation of metabolism|up-regulation of metabolic process|positive regulation of multicellular organismal metabolic process|up-regulation of organismal metabolic process|up regulation of metabolic process|activation of metabolic process|positive regulation of organismal metabolism|stimulation of organismal metabolic process|stimulation of metabolic process	http://purl.obolibrary.org/obo/GO_0009893		
GO:0009894	biolink:NamedThing	regulation of catabolic process	Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of substances.		mondo.json	regulation of degradation|regulation of catabolism|regulation of breakdown	http://purl.obolibrary.org/obo/GO_0009894		
GO:0046849	biolink:NamedThing	bone remodeling	The continuous turnover of bone matrix and mineral that involves first, an increase in resorption (osteoclastic activity) and later, reactive bone formation (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium homeostasis. An imbalance in the regulation of bone resorption and bone formation results in many of the metabolic bone diseases, such as osteoporosis.		mondo.json	bone remodelling	http://purl.obolibrary.org/obo/GO_0046849		
GO:0019218	biolink:NamedThing	regulation of steroid metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving steroids.		mondo.json	regulation of steroid metabolism	http://purl.obolibrary.org/obo/GO_0019218		
GO:0009895	biolink:NamedThing	negative regulation of catabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances.		mondo.json	negative regulation of breakdown|down-regulation of catabolic process|negative regulation of catabolism|down regulation of catabolic process|inhibition of catabolic process|negative regulation of degradation|downregulation of catabolic process	http://purl.obolibrary.org/obo/GO_0009895		
GO:0010884	biolink:NamedThing	positive regulation of lipid storage	Any process that increases the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development.		mondo.json	positive regulation of lipid sequestration	http://purl.obolibrary.org/obo/GO_0010884		
GO:0009896	biolink:NamedThing	positive regulation of catabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances.		mondo.json	up regulation of catabolic process|activation of catabolic process|stimulation of catabolic process|upregulation of catabolic process|positive regulation of degradation|positive regulation of catabolism|up-regulation of catabolic process|positive regulation of breakdown	http://purl.obolibrary.org/obo/GO_0009896		
GO:0019219	biolink:NamedThing	regulation of nucleobase-containing compound metabolic process	Any cellular process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids.		mondo.json	regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism|regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	http://purl.obolibrary.org/obo/GO_0019219		
GO:0019216	biolink:NamedThing	regulation of lipid metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids.		mondo.json	regulation of lipid metabolism	http://purl.obolibrary.org/obo/GO_0019216		
GO:0019217	biolink:NamedThing	regulation of fatty acid metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving fatty acids.		mondo.json	regulation of fatty acid metabolism	http://purl.obolibrary.org/obo/GO_0019217		
GO:0010883	biolink:NamedThing	regulation of lipid storage	Any process that modulates the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development.		mondo.json	regulation of lipid sequestration	http://purl.obolibrary.org/obo/GO_0010883		
GO:0019212	biolink:NamedThing	phosphatase inhibitor activity	Binds to and stops, prevents or reduces the activity of a phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a substrate molecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0019212		
GO:0019210	biolink:NamedThing	kinase inhibitor activity	Binds to and stops, prevents or reduces the activity of a kinase.		mondo.json		http://purl.obolibrary.org/obo/GO_0019210		
GO:0019211	biolink:NamedThing	phosphatase activator activity	Binds to and increases the activity of a phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a substrate molecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0019211		
GO:0007249	biolink:NamedThing	I-kappaB kinase/NF-kappaB signaling	The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription.		mondo.json	NF-kappaB cascade|I-kappaB kinase/NF-kappaB cascade|canonical NF-kappaB signaling cascade|p50-dependent NF-kappaB signaling|I-kappaB kinase/NF-kappaB signal transduction|activation of the inhibitor of kappa kinase	http://purl.obolibrary.org/obo/GO_0007249		
GO:0046852	biolink:NamedThing	positive regulation of bone remodeling	Any process that activates or increases the frequency, rate or extent of bone remodeling.		mondo.json	activation of bone remodeling|stimulation of bone remodeling|upregulation of bone remodeling|up-regulation of bone remodeling|up regulation of bone remodeling	http://purl.obolibrary.org/obo/GO_0046852		
GO:0046851	biolink:NamedThing	negative regulation of bone remodeling	Any process that stops, prevents, or reduces the frequency, rate or extent of bone remodeling.		mondo.json	down-regulation of bone remodeling|down regulation of bone remodeling|inhibition of bone remodeling|downregulation of bone remodeling	http://purl.obolibrary.org/obo/GO_0046851		
GO:0046850	biolink:NamedThing	regulation of bone remodeling	Any process that modulates the frequency, rate or extent of bone remodeling, the processes of bone formation and resorption that combine to maintain skeletal integrity.		mondo.json		http://purl.obolibrary.org/obo/GO_0046850		
GO:0010891	biolink:NamedThing	negative regulation of sequestering of triglyceride	Any process that decreases the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system.		mondo.json	negative regulation of sequestering of triacylglycerol|negative regulation of triglyceride sequestration	http://purl.obolibrary.org/obo/GO_0010891		
GO:0010892	biolink:NamedThing	positive regulation of mitochondrial translation in response to stress	Any process that activates or increases the frequency, rate or extent of mitochondrial translation as a result of a stimulus indicating the organism is under stress.		mondo.json		http://purl.obolibrary.org/obo/GO_0010892		
GO:0010890	biolink:NamedThing	positive regulation of sequestering of triglyceride	Any process that increases the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system.		mondo.json	positive regulation of sequestering of triacylglycerol|positive regulation of triglyceride sequestration	http://purl.obolibrary.org/obo/GO_0010890		
GO:0019229	biolink:NamedThing	regulation of vasoconstriction	Any process that modulates the frequency, rate or extent of reductions in the diameter of blood vessels.		mondo.json		http://purl.obolibrary.org/obo/GO_0019229		
GO:0010893	biolink:NamedThing	positive regulation of steroid biosynthetic process	Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus.		mondo.json		http://purl.obolibrary.org/obo/GO_0010893		
GO:0010894	biolink:NamedThing	negative regulation of steroid biosynthetic process	Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus.		mondo.json		http://purl.obolibrary.org/obo/GO_0010894		
GO:0019226	biolink:NamedThing	transmission of nerve impulse	The neurological system process in which a signal is transmitted through the nervous system by a combination of action potential propagation and synaptic transmission.		mondo.json	conduction of nerve impulse|signal transmission along a neuron	http://purl.obolibrary.org/obo/GO_0019226		
GO:0019221	biolink:NamedThing	cytokine-mediated signaling pathway	The series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription.		mondo.json	cytokine and chemokine mediated signaling pathway|cytokine mediated signalling pathway	http://purl.obolibrary.org/obo/GO_0019221		
GO:0019222	biolink:NamedThing	regulation of metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism.		mondo.json	regulation of multicellular organismal metabolic process|regulation of metabolism|regulation of organismal metabolic process	http://purl.obolibrary.org/obo/GO_0019222		
SO:0001235	biolink:SequenceFeature	replicon	A region containing at least one unique origin of replication and a unique termination site.		mondo.json		http://purl.obolibrary.org/obo/SO_0001235		
CHEBI:59698	biolink:ChemicalSubstance	phosphoric acids	Compounds containing one or more phosphoric acid units.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_59698		
CHEBI:72695	biolink:ChemicalSubstance	organic molecule	Any molecule that consists of at least one carbon atom as part of the electrically neutral entity.		mondo.json	organic compound|organic molecules|organic compounds	http://purl.obolibrary.org/obo/CHEBI_72695		
NBO:0000073	biolink:NamedThing	chewing	The act of repeated grinding, tearing, and or crushing with teeth or jaws [NBO:SMAC]		mondo.json	chew|gnaw|mastication	http://purl.obolibrary.org/obo/NBO_0000073		
HGNC:758	biolink:NamedThing	ASS1			mondo.json		http://identifiers.org/hgnc/758		
GO:0019220	biolink:NamedThing	regulation of phosphate metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphates.		mondo.json	regulation of phosphate metabolism	http://purl.obolibrary.org/obo/GO_0019220		
HGNC:735	biolink:NamedThing	ASAH1			mondo.json		http://identifiers.org/hgnc/735		
SO:0001272	biolink:SequenceFeature	tRNA_gene	A noncoding RNA that binds to a specific amino acid to allow that amino acid to be used by the ribosome during translation of RNA.		mondo.json	tRNA gene	http://purl.obolibrary.org/obo/SO_0001272		
GO:0022853	biolink:NamedThing	active ion transmembrane transporter activity	Enables the transfer of an ion from one side of a membrane to the other up the solute's concentration gradient. This is carried out by binding the solute and undergoing a series of conformational changes. Transport works equally well in either direction.		mondo.json		http://purl.obolibrary.org/obo/GO_0022853		
GO:0007215	biolink:NamedThing	glutamate receptor signaling pathway	The series of molecular signals initiated by the binding of glutamate to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.		mondo.json	glutamate signalling pathway|glutamate signaling pathway	http://purl.obolibrary.org/obo/GO_0007215		
GO:0071829	biolink:NamedThing	plasma lipoprotein particle disassembly	The disaggregation of a plasma lipoprotein particle into its constituent components.		mondo.json		http://purl.obolibrary.org/obo/GO_0071829		
GO:0071827	biolink:NamedThing	plasma lipoprotein particle organization	A protein-lipid complex subunit organization process that results in the formation, disassembly, or alteration of a plasma lipoprotein particle. A plasma lipoprotein particle is a spherical particle with a hydrophobic core of triglycerides and/or cholesterol esters, surrounded by an amphipathic monolayer of phospholipids, cholesterol and apolipoproteins.		mondo.json	plasma lipoprotein particle organisation	http://purl.obolibrary.org/obo/GO_0071827		
GO:0071826	biolink:NamedThing	ribonucleoprotein complex subunit organization	Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a ribonucleoprotein complex.		mondo.json	protein-RNA complex subunit organization|RNA-protein complex subunit organization|ribonucleoprotein complex subunit organisation	http://purl.obolibrary.org/obo/GO_0071826		
GO:0071825	biolink:NamedThing	protein-lipid complex subunit organization	Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein-lipid complex.		mondo.json	protein-lipid complex subunit organisation	http://purl.obolibrary.org/obo/GO_0071825		
GO:0022857	biolink:NamedThing	transmembrane transporter activity	Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other.		mondo.json	uptake permease activity|substrate-specific transmembrane transporter activity|uptake transmembrane transporter activity|substrate-specific transporter activity	http://purl.obolibrary.org/obo/GO_0022857		
SO:0001268	biolink:SequenceFeature	snRNA_gene	A gene that encodes a small nuclear RNA.		mondo.json	snRNA gene|small nuclear RNA gene	http://purl.obolibrary.org/obo/SO_0001268		
SO:0001265	biolink:SequenceFeature	miRNA_gene	A small noncoding RNA of approximately 22 nucleotides in length which may be involved in regulation of gene expression.		mondo.json	stRNA gene|stRNA_gene|miRNA gene	http://purl.obolibrary.org/obo/SO_0001265		
HGNC:746	biolink:NamedThing	ASL			mondo.json		http://identifiers.org/hgnc/746		
SO:0001267	biolink:SequenceFeature	snoRNA_gene	A gene encoding a small noncoding RNA that participates in the processing or chemical modifications of many RNAs, including ribosomal RNAs and spliceosomal RNAs.		mondo.json	snoRNA gene	http://purl.obolibrary.org/obo/SO_0001267		
SO:0001260	biolink:SequenceFeature	sequence_collection	A collection of discontinuous sequences.		mondo.json	sequence collection	http://purl.obolibrary.org/obo/SO_0001260		
SO:0001263	biolink:SequenceFeature	ncRNA_gene	A gene that encodes a non-coding RNA.		mondo.json	non-coding RNA gene|ncRNA gene	http://purl.obolibrary.org/obo/SO_0001263		
GO:0010877	biolink:NamedThing	lipid transport involved in lipid storage	The directed movement of lipids into cells that is part of their accumulation and maintenance.		mondo.json		http://purl.obolibrary.org/obo/GO_0010877		
GO:0046877	biolink:NamedThing	regulation of saliva secretion	Any process that modulates the frequency, rate or extent of the regulated release of saliva from a cell or a tissue.		mondo.json		http://purl.obolibrary.org/obo/GO_0046877		
GO:0044212	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0044212		
GO:0010876	biolink:NamedThing	lipid localization	Any process in which a lipid is transported to, or maintained in, a specific location.		mondo.json	lipid localisation	http://purl.obolibrary.org/obo/GO_0010876		
GO:0046873	biolink:NamedThing	metal ion transmembrane transporter activity	Enables the transfer of metal ions from one side of a membrane to the other.		mondo.json	heavy metal ion transporter activity|high affinity metal ion uptake transporter activity|low affinity metal ion uptake transporter activity|heavy metal-exporting ATPase activity|heavy metal ion porter activity|heavy metal ion:hydrogen symporter activity	http://purl.obolibrary.org/obo/GO_0046873		
GO:0009890	biolink:NamedThing	negative regulation of biosynthetic process	Any process that stops, prevents, or reduces the rate of the chemical reactions and pathways resulting in the formation of substances.		mondo.json	negative regulation of formation|downregulation of biosynthetic process|down regulation of biosynthetic process|inhibition of biosynthetic process|down-regulation of biosynthetic process|negative regulation of biosynthesis|negative regulation of anabolism|negative regulation of synthesis	http://purl.obolibrary.org/obo/GO_0009890		
GO:0019209	biolink:NamedThing	kinase activator activity	Binds to and increases the activity of a kinase, an enzyme which catalyzes of the transfer of a phosphate group, usually from ATP, to a substrate molecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0019209		
GO:0019207	biolink:NamedThing	kinase regulator activity	Modulates the activity of a kinase, an enzyme which catalyzes of the transfer of a phosphate group, usually from ATP, to a substrate molecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0019207		
GO:0019208	biolink:NamedThing	phosphatase regulator activity	Binds to and modulates the activity of a phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a substrate molecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0019208		
GO:0046879	biolink:NamedThing	hormone secretion	The regulated release of hormones, substances with a specific regulatory effect on a particular organ or group of cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0046879		
GO:0046878	biolink:NamedThing	positive regulation of saliva secretion	Any process that activates or increases the frequency, rate or extent of the regulated release of saliva.		mondo.json	upregulation of saliva secretion|stimulation of saliva secretion|up regulation of saliva secretion|up-regulation of saliva secretion|activation of saliva secretion	http://purl.obolibrary.org/obo/GO_0046878		
GO:0009887	biolink:NamedThing	animal organ morphogenesis	Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions.		mondo.json	histogenesis and organogenesis	http://purl.obolibrary.org/obo/GO_0009887		
GO:0009888	biolink:NamedThing	tissue development	The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure.		mondo.json	histogenesis and organogenesis|histogenesis	http://purl.obolibrary.org/obo/GO_0009888		
GO:0019203	biolink:NamedThing	carbohydrate phosphatase activity	Catalysis of the reaction: carbohydrate phosphate + H2O = carbohydrate + phosphate.		mondo.json		http://purl.obolibrary.org/obo/GO_0019203		
GO:0009889	biolink:NamedThing	regulation of biosynthetic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances.		mondo.json	regulation of anabolism|regulation of synthesis|regulation of biosynthesis|regulation of formation	http://purl.obolibrary.org/obo/GO_0009889		
GO:0022843	biolink:NamedThing	voltage-gated cation channel activity	Enables the transmembrane transfer of a cation by a voltage-gated channel. A cation is a positively charged ion. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.		mondo.json		http://purl.obolibrary.org/obo/GO_0022843		
GO:0022848	biolink:NamedThing	acetylcholine-gated cation-selective channel activity	Selectively enables the transmembrane transfer of a cation by a channel that opens upon binding acetylcholine.		mondo.json	nicotinic acetylcholine-activated cation-selective channel activity|acetylcholine-gated cation channel activity|nicotinergic acetylcholine receptor activity|ionotropic acetylcholine receptor activity|nAChR|acetylcholine-activated cation-selective channel activity	http://purl.obolibrary.org/obo/GO_0022848		
HGNC:738	biolink:NamedThing	ASCL1			mondo.json		http://identifiers.org/hgnc/738		
GO:0019200	biolink:NamedThing	carbohydrate kinase activity	Catalysis of the transfer of a phosphate group, usually from ATP, to a carbohydrate substrate molecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0019200		
HGNC:713	biolink:NamedThing	ARSA			mondo.json		http://identifiers.org/hgnc/713		
GO:0046888	biolink:NamedThing	negative regulation of hormone secretion	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a hormone from a cell.		mondo.json	down regulation of hormone secretion|inhibition of hormone secretion|downregulation of hormone secretion|down-regulation of hormone secretion	http://purl.obolibrary.org/obo/GO_0046888		
GO:0046887	biolink:NamedThing	positive regulation of hormone secretion	Any process that activates or increases the frequency, rate or extent of the regulated release of a hormone from a cell.		mondo.json	up-regulation of hormone secretion|up regulation of hormone secretion|activation of hormone secretion|stimulation of hormone secretion|upregulation of hormone secretion	http://purl.obolibrary.org/obo/GO_0046887		
GO:0046886	biolink:NamedThing	positive regulation of hormone biosynthetic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of hormones.		mondo.json	upregulation of hormone biosynthetic process|positive regulation of hormone biosynthesis|positive regulation of hormone anabolism|up regulation of hormone biosynthetic process|stimulation of hormone biosynthetic process|positive regulation of hormone synthesis|up-regulation of hormone biosynthetic process|activation of hormone biosynthetic process|positive regulation of hormone formation	http://purl.obolibrary.org/obo/GO_0046886		
GO:0046885	biolink:NamedThing	regulation of hormone biosynthetic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of hormones.		mondo.json	regulation of hormone anabolism|regulation of hormone synthesis|regulation of hormone formation|regulation of hormone biosynthesis	http://purl.obolibrary.org/obo/GO_0046885		
GO:0046883	biolink:NamedThing	regulation of hormone secretion	Any process that modulates the frequency, rate or extent of the regulated release of a hormone from a cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0046883		
CHEBI:35695	biolink:ChemicalSubstance	dicarboxylic acid monoanion	Any dicarboxylic acid anion that is a monoanion obtained by the deprotonation of only one of the carboxy groups of the dicarboxylic acid.		mondo.json	dicarboxylic acid monoanions	http://purl.obolibrary.org/obo/CHEBI_35695		
GO:0046889	biolink:NamedThing	positive regulation of lipid biosynthetic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids.		mondo.json	positive regulation of lipid biosynthesis|positive regulation of lipid synthesis|up regulation of lipid biosynthetic process|positive regulation of lipid formation|stimulation of lipid biosynthetic process|up-regulation of lipid biosynthetic process|positive regulation of lipogenesis|activation of lipid biosynthetic process|positive regulation of lipid anabolism|upregulation of lipid biosynthetic process	http://purl.obolibrary.org/obo/GO_0046889		
GO:0022832	biolink:NamedThing	voltage-gated channel activity	Enables the transmembrane transfer of a solute by a channel whose open state is dependent on the voltage across the membrane in which it is embedded.		mondo.json		http://purl.obolibrary.org/obo/GO_0022832		
GO:0022835	biolink:NamedThing	transmitter-gated channel activity	Enables the transmembrane transfer of a solute by a channel that opens when a specific neurotransmitter has been bound by the channel complex or one of its constituent parts.		mondo.json	neurotransmitter-gated channel activity|extracellular substance gated channel activity	http://purl.obolibrary.org/obo/GO_0022835		
GO:0022834	biolink:NamedThing	ligand-gated channel activity	Enables the transmembrane transfer of a solute by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts.		mondo.json		http://purl.obolibrary.org/obo/GO_0022834		
GO:0071840	biolink:NamedThing	cellular component organization or biogenesis	A process that results in the biosynthesis of constituent macromolecules, assembly, arrangement of constituent parts, or disassembly of a cellular component.		mondo.json	cellular component organisation or biogenesis|cellular component organisation or biogenesis at cellular level|cellular component organization or biogenesis at cellular level	http://purl.obolibrary.org/obo/GO_0071840		
CHEBI:35692	biolink:ChemicalSubstance	dicarboxylic acid	Any carboxylic acid containing two carboxy groups.		mondo.json	Dicarboxylic acid|dicarboxylic acids	http://purl.obolibrary.org/obo/CHEBI_35692		
GO:0022836	biolink:NamedThing	gated channel activity	Enables the transmembrane transfer of a solute by a channel that opens in response to a specific stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0022836		
GO:0022839	biolink:NamedThing	ion gated channel activity	Enables the transmembrane transfer of a solute by a channel that opens in response to a specific ion stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0022839		
GO:0022838	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0022838		
CHEBI:35693	biolink:ChemicalSubstance	dicarboxylic acid anion			mondo.json	dicarboxylic acid anions|dicarboxylic acid anion	http://purl.obolibrary.org/obo/CHEBI_35693		
GO:0046890	biolink:NamedThing	regulation of lipid biosynthetic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids.		mondo.json	regulation of lipid anabolism|regulation of lipid biosynthesis|regulation of lipid synthesis|regulation of lipid formation|regulation of lipogenesis	http://purl.obolibrary.org/obo/GO_0046890		
GO:0044237	biolink:NamedThing	cellular metabolic process	The chemical reactions and pathways by which individual cells transform chemical substances.		mondo.json	intermediary metabolism|cellular metabolism	http://purl.obolibrary.org/obo/GO_0044237		
GO:0140096	biolink:NamedThing	catalytic activity, acting on a protein	Catalytic activity that acts to modify a protein.		mondo.json		http://purl.obolibrary.org/obo/GO_0140096		
GO:0022829	biolink:NamedThing	wide pore channel activity	Enables the transport of a solute across a membrane via a large pore, un-gated channel. Examples include gap junctions, which transport substances from one cell to another; and porins which transport substances in and out of bacteria, mitochondria and chloroplasts.		mondo.json	non-gated, wide pore channel activity|gap junction activity	http://purl.obolibrary.org/obo/GO_0022829		
GO:0044238	biolink:NamedThing	primary metabolic process	The chemical reactions and pathways involving those compounds which are formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism.		mondo.json	primary metabolism	http://purl.obolibrary.org/obo/GO_0044238		
HGNC:719	biolink:NamedThing	ARSL			mondo.json		http://identifiers.org/hgnc/719		
GO:0022824	biolink:NamedThing	transmitter-gated ion channel activity	Enables the transmembrane transfer of an ion by a channel that opens when a specific neurotransmitter has been bound by the channel complex or one of its constituent parts.		mondo.json	ionotropic neurotransmitter receptor activity	http://purl.obolibrary.org/obo/GO_0022824		
GO:0071830	biolink:NamedThing	triglyceride-rich lipoprotein particle clearance	The process in which a triglyceride-rich lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded.		mondo.json		http://purl.obolibrary.org/obo/GO_0071830		
HGNC:714	biolink:NamedThing	ARSB			mondo.json		http://identifiers.org/hgnc/714		
GO:0010828	biolink:NamedThing	positive regulation of glucose transmembrane transport	Any process that increases the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	positive regulation of glucose transport	http://purl.obolibrary.org/obo/GO_0010828		
GO:0010829	biolink:NamedThing	negative regulation of glucose transmembrane transport	Any process that decreases the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	negative regulation of glucose transport	http://purl.obolibrary.org/obo/GO_0010829		
GO:0044247	biolink:NamedThing	cellular polysaccharide catabolic process	The chemical reactions and pathways resulting in the breakdown of polysaccharides, polymers of many (typically more than 10) monosaccharide residues linked glycosidically, as carried out by individual cells.		mondo.json	cellular polysaccharide degradation|cellular polysaccharide breakdown|cellular polysaccharide catabolism	http://purl.obolibrary.org/obo/GO_0044247		
GO:0010822	biolink:NamedThing	positive regulation of mitochondrion organization	Any process that increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion.		mondo.json	positive regulation of mitochondrion organisation	http://purl.obolibrary.org/obo/GO_0010822		
GO:0010823	biolink:NamedThing	negative regulation of mitochondrion organization	Any process that decreases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion.		mondo.json	negative regulation of mitochondrion organisation	http://purl.obolibrary.org/obo/GO_0010823		
GO:0044248	biolink:NamedThing	cellular catabolic process	The chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells.		mondo.json	cellular catabolism|cellular degradation|cellular breakdown	http://purl.obolibrary.org/obo/GO_0044248		
GO:0010821	biolink:NamedThing	regulation of mitochondrion organization	Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion.		mondo.json	regulation of mitochondrion organisation	http://purl.obolibrary.org/obo/GO_0010821		
GO:0010827	biolink:NamedThing	regulation of glucose transmembrane transport	Any process that modulates the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	regulation of glucose transport	http://purl.obolibrary.org/obo/GO_0010827		
GO:0044249	biolink:NamedThing	cellular biosynthetic process	The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells.		mondo.json	cellular biosynthesis|cellular anabolism|cellular synthesis|cellular formation	http://purl.obolibrary.org/obo/GO_0044249		
FOODON:03411564	biolink:NamedThing	food product organismal source	This is a hierarchy of organisms, grouped minimally in a combination of taxonomy and consumer-oriented food groups.		mondo.json		http://purl.obolibrary.org/obo/FOODON_03411564		
GO:0044255	biolink:NamedThing	cellular lipid metabolic process	The chemical reactions and pathways involving lipids, as carried out by individual cells.		mondo.json	cellular lipid metabolism	http://purl.obolibrary.org/obo/GO_0044255		
PO:0008028	biolink:NamedThing	reproductive shoot apical meristem	A shoot apical meristem (PO:0020148) that gives rise to the apical growth of reproductive tissues and organs.	PO_GIT:36	mondo.json	meristema apical reproductivo del epiblasto (epiblastema) (Spanish, exact)|生殖シュート頂端 分裂組織 (Japanese, exact)	http://purl.obolibrary.org/obo/PO_0008028		
GO:0022804	biolink:NamedThing	active transmembrane transporter activity	Enables the transfer of a specific substance or related group of substances from one side of a membrane to the other, up the solute's concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction.		mondo.json	pump activity|carrier activity|active carrier activity|permease activity	http://purl.obolibrary.org/obo/GO_0022804		
GO:0022803	biolink:NamedThing	passive transmembrane transporter activity	Enables the transfer of a single solute from one side of a membrane to the other by a mechanism involving conformational change, either by facilitated diffusion or in a membrane potential dependent process if the solute is charged.		mondo.json	porters|facilitated diffusion|uniporter activity z	http://purl.obolibrary.org/obo/GO_0022803		
MONDO:0017390	biolink:Disease	obsolete methylmalonic acidemia without homocystinuria	OBSOLETE. Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase.	Orphanet:293355	mondo.json	methylmalonic aciduria without homocystinuria|methylmalonic acidemia without homocystinuria	http://purl.obolibrary.org/obo/MONDO_0017390	Orphanet:293355	ordo_group_of_disorders
MONDO:0017391	biolink:Disease	Grayson-Wilbrandt corneal dystrophy	Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity.	SCTID:717286002|Orphanet:293375	mondo.json	GWCD	http://purl.obolibrary.org/obo/MONDO_0017391	Orphanet:293375|http://identifiers.org/snomedct/717286002	ordo_disease
MONDO:0017392	biolink:Disease	pre-descemet corneal dystrophy	Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision.	Orphanet:293462|SCTID:231934009|ICD9:371.56	mondo.json	PDCD	http://purl.obolibrary.org/obo/MONDO_0017392	Orphanet:293462|http://identifiers.org/snomedct/231934009	ordo_disease
MONDO:0017393	biolink:Disease	blepharophimosis - intellectual disability syndrome		GARD:0010892|UMLS:CN203134|Orphanet:293642	mondo.json	BMRS|Say Barber Biesecker Young-Simpson syndrome|SBBYS syndrome|blepharophimosis intellectual disability syndromes|blepharophimosis syndrome Ohdo type|Young Simpson syndrome|blepharophimosis mental retardation syndromes	http://purl.obolibrary.org/obo/MONDO_0017393	Orphanet:293642|UMLS:CN203134	ordo_group_of_disorders|disease_grouping
GO:0032270	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0032270		
MONDO:0017398	biolink:Disease	3MC syndrome	3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti.	GARD:0001118|SCTID:720756005|DOID:0060225|Orphanet:293843|OMIMPS:257920|UMLS:CN230015	mondo.json	craniofacial-ulnar-renal syndrome|oculopalatoskeletal syndrome|Malpuech-Michels-Mingarelli-Carnevale syndrome	http://purl.obolibrary.org/obo/MONDO_0017398	https://omim.org/phenotypicSeries/PS257920|UMLS:CN230015|DOID:0060225|Orphanet:293843|http://identifiers.org/snomedct/720756005	ordo_malformation_syndrome|gard_rare
MONDO:0030376	biolink:Disease	Martsolf syndrome 2		OMIM:619420	mondo.json	MARTS2	http://purl.obolibrary.org/obo/MONDO_0030376	https://omim.org/entry/619420	
MONDO:0017399	biolink:Disease	frontotemporal dementia, right temporal atrophy variant	Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy.	Orphanet:293848|UMLS:CN203142|SCTID:716667005	mondo.json	RTLA|rvFTD	http://purl.obolibrary.org/obo/MONDO_0017399	Orphanet:293848|UMLS:CN203142|http://identifiers.org/snomedct/716667005	ordo_disease
MONDO:0030375	biolink:Disease	neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2		OMIM:619418	mondo.json	IMNEPD2	http://purl.obolibrary.org/obo/MONDO_0030375	https://omim.org/entry/619418	
GO:0032278	biolink:NamedThing	positive regulation of gonadotropin secretion	Any process that activates or increases the frequency, rate or extent of the regulated release of a gonadotropin.		mondo.json	positive regulation of gonadotrophin secretion|upregulation of gonadotropin secretion|stimulation of gonadotropin secretion|up regulation of gonadotropin secretion|activation of gonadotropin secretion|up-regulation of gonadotropin secretion	http://purl.obolibrary.org/obo/GO_0032278		
MONDO:0030378	biolink:Disease	combined oxidative phosphorylation deficiency 53	An autosomal recessive disorder characterized by hypomyelination, microcephaly, liver dysfunction, and recurrent hypomyelination.	OMIM:619423	mondo.json	combined oxidative phosphorylation deficiency due to C2orf69 deficiency|COXPD53	http://purl.obolibrary.org/obo/MONDO_0030378	https://omim.org/entry/619423	
GO:0032277	biolink:NamedThing	negative regulation of gonadotropin secretion	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a gonadotropin.		mondo.json	down regulation of gonadotropin secretion|negative regulation of gonadotrophin secretion|inhibition of gonadotropin secretion|down-regulation of gonadotropin secretion|downregulation of gonadotropin secretion	http://purl.obolibrary.org/obo/GO_0032277		
MONDO:0017394	biolink:Disease	ketamine-induced biliary dilatation	Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients.	Orphanet:293807|UMLS:CN227122|UMLS:C4512018|SCTID:726613003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017394	http://identifiers.org/snomedct/726613003|UMLS:C4512018|Orphanet:293807|UMLS:CN227122	ordo_clinical_situation
GO:0032276	biolink:NamedThing	regulation of gonadotropin secretion	Any process that modulates the frequency, rate or extent of the regulated release of a gonadotropin.		mondo.json	regulation of gonadotrophin secretion	http://purl.obolibrary.org/obo/GO_0032276		
MONDO:0017395	biolink:Disease	fixed pigmented erythema		MedDRA:10048796|Orphanet:293812|SCTID:73692007	mondo.json	fixed drug eruption	http://purl.obolibrary.org/obo/MONDO_0017395	http://identifiers.org/snomedct/73692007|Orphanet:293812	ordo_disease
GO:0032275	biolink:NamedThing	luteinizing hormone secretion	The regulated release of luteinizing hormone, a gonadotropic glycoprotein hormone secreted by the anterior pituitary.		mondo.json		http://purl.obolibrary.org/obo/GO_0032275		
MONDO:0030374	biolink:Disease	WHIM syndrome 2		OMIM:619407	mondo.json	WHIMS2	http://purl.obolibrary.org/obo/MONDO_0030374	https://omim.org/entry/619407	
MONDO:0017396	biolink:Disease	toxic dermatosis		Orphanet:293815	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017396	Orphanet:293815	disease_grouping|ordo_group_of_disorders
GO:0032274	biolink:NamedThing	gonadotropin secretion	The regulated release of a gonadotropin, any hormone that stimulates the gonads, especially follicle-stimulating hormone and luteinizing hormone.		mondo.json	gonadotrophin secretion	http://purl.obolibrary.org/obo/GO_0032274		
MONDO:0017397	biolink:Disease	constitutional dyserythropoietic anemia		Orphanet:293830	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017397	Orphanet:293830	disease_grouping|ordo_group_of_disorders
MONDO:0017380	biolink:Disease	juvenile polyposis syndrome	Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract.	OMIM:612242|SCTID:9273005|OMIM:174900|UMLS:CN239474|Orphanet:2929|GARD:0003065|NCIT:C7754|UMLS:C0345893	mondo.json	PJI|juvenile multiple polyps syndrome|polyposis, juvenile intestinal|jPS|juvenile intestinal polyposis|JIP|polyposis familial of entire gastrointestinal tract|juvenile polyposis syndrome|polyposis juvenile intestinal|juvenile polyposis|juvenile gastrointestinal polyposis	http://purl.obolibrary.org/obo/MONDO_0017380	UMLS:C0345893|Orphanet:2929|http://identifiers.org/snomedct/9273005|NCIT:C7754|https://omim.org/entry/174900	ordo_disease
MONDO:0017381	biolink:Disease	congenital herpes simplex virus infection	Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent foetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent.	GARD:0007173|SCTID:91576008|ICD9:771.2|GARD:0001486|UMLS:C0276225|Orphanet:293	mondo.json	mother-to-child transmission of herpes simplex virus infection|Simplexvirus caused infectious embryofetopathy|neonatal herpes simplex virus infection|Simplexvirus infectious embryofetopathy|congenital herpes simplex|antenatal herpes simplex virus infection|congenital herpes simplex infection|neonatal HSV infection|neonatal herpes simplex	http://purl.obolibrary.org/obo/MONDO_0017381	http://identifiers.org/snomedct/91576008|Orphanet:293|UMLS:C0276225	ordo_disease|gard_rare
MONDO:0017382	biolink:Disease	familial clubfoot due to 5q31 microdeletion		Orphanet:293144|UMLS:CN203109	mondo.json	hereditary clubfoot due to 5q31 microdeletion	http://purl.obolibrary.org/obo/MONDO_0017382	Orphanet:293144|UMLS:CN203109	ordo_etiological_subtype
NCBITaxon:431838	biolink:OrganismalEntity	Intramacronucleata		GC_ID:6	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_431838		
MONDO:0017387	biolink:Disease	epithelioid sarcoma	An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma).	Orphanet:293202|DOID:6193|NCIT:C3714|ONCOTREE:EPIS|ICDO:8804/3|UMLS:C0205944|MedDRA:10015099|GARD:0010181	mondo.json	epithelioid cell sarcoma|epithelioid sarcoma|ES	http://purl.obolibrary.org/obo/MONDO_0017387	DOID:6193|NCIT:C3714|Orphanet:293202|UMLS:C0205944	ordo_disease|gard_rare
GO:0032269	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0032269		
MONDO:0017388	biolink:Disease	celiac trunk compression syndrome	A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation.	UMLS:CN203119|Orphanet:293208	mondo.json	Dunbar syndrome	http://purl.obolibrary.org/obo/MONDO_0017388	Orphanet:293208|UMLS:CN203119	ordo_disease
GO:0032268	biolink:NamedThing	regulation of cellular protein metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell.		mondo.json	regulation of cellular protein metabolism	http://purl.obolibrary.org/obo/GO_0032268		
MONDO:0017389	biolink:Disease	tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria	Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase.	Orphanet:293284	mondo.json	BH4-responsive HPA/PKU|tetrahydrobiopterin-responsive HPA/PKU|BH4-responsive hyperphenylalaninemia/phenylketonuria	http://purl.obolibrary.org/obo/MONDO_0017389	Orphanet:293284	ordo_clinical_subtype
MONDO:0017383	biolink:Disease	familial clubfoot due to PITX1 point mutation		Orphanet:293150|UMLS:CN203110	mondo.json	hereditary clubfoot due to PITX1 point mutation	http://purl.obolibrary.org/obo/MONDO_0017383	Orphanet:293150|UMLS:CN203110	ordo_etiological_subtype
MONDO:0017384	biolink:Disease	acute generalized exanthematous pustulosis	A widespread acute rash characterized by fever and multiple small pustules on a reddish background.	SCTID:702617007|NCIT:C112122|MedDRA:10048799|UMLS:C0877055|Orphanet:293173|MESH:D056150|ICD9:709.8	mondo.json	AGEP|toxic pustuloderma|pustular drug eruption	http://purl.obolibrary.org/obo/MONDO_0017384	UMLS:C0877055|Orphanet:293173|NCIT:C112122|http://identifiers.org/snomedct/702617007|http://identifiers.org/mesh/D056150	ordo_disease
MONDO:0017385	biolink:Disease	malignant migrating partial seizures of infancy	A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay.	NCIT:C125387|UMLS:CN203114|UMLS:CN240507|GARD:0012919|Orphanet:293181	mondo.json	MPEI|MMPSI|MMPEI|migrating Partial seizures in infancy|malignant migrating Partial seizures in infancy|MPSI|migrating partial seizures of infancy|migrating partial epilepsy of infancy|malignant migrating partial epilepsy of infancy	http://purl.obolibrary.org/obo/MONDO_0017385	UMLS:CN240507|Orphanet:293181|NCIT:C125387|UMLS:CN203114	ordo_disease
MONDO:0017386	biolink:Disease	pleomorphic rhabdomyosarcoma	An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities.	UMLS:C0334480|Orphanet:293199|NCIT:C4258|ICD9:171.9|SCTID:404054005|DOID:3250|ONCOTREE:PLRMS	mondo.json	pleomorphic rhabdomyosarcoma|pleomorphic rhabdomyosarcoma, adult type|anaplastic rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0017386	DOID:3250|http://identifiers.org/snomedct/404054005|Orphanet:293199|NCIT:C4258|UMLS:C0334480	ordo_disease
MONDO:0042370	biolink:Disease	Yersinia enterocolitica infectious disease		SCTID:80960004	mondo.json	infection caused by Yersinia enterocolitica|infection by Yersinia enterocolitica	http://purl.obolibrary.org/obo/MONDO_0042370	http://identifiers.org/snomedct/80960004	
MONDO:0017370	biolink:Disease	obsolete autoinflammatory syndrome with skin involvement		UMLS:CN203043|Orphanet:290842	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017370	Orphanet:290842|UMLS:CN203043	ordo_group_of_disorders
MONDO:0017371	biolink:Disease	obsolete rare head and neck tumor	OBSOLETE. Rare head and neck neoplasia.	Orphanet:290849|UMLS:C0018671	mondo.json	rare head and neck neoplasm|rare head and neck neoplasia	http://purl.obolibrary.org/obo/MONDO_0017371	Orphanet:290849	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
GO:0032259	biolink:NamedThing	methylation	The process in which a methyl group is covalently attached to a molecule.		mondo.json		http://purl.obolibrary.org/obo/GO_0032259		
MONDO:0005387	biolink:Disease	primary ovarian failure	Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries.	NCIT:C113352|SCTID:370999003|DOID:5426|UMLS:C0085215|ICD9:253.4|ICD9:256.39|EFO:0004266|Orphanet:619|ICD10CM:E28.3|SCTID:65846009|MESH:D016649	mondo.json	primary ovarian failure|premature ovarian insufficiency|hypergonadotrophic ovarian failure|primary ovarian insufficiency|hypergonadotropic hypogonadism (female)|premature menopause|female hypergonadotropic hypogonadism|primary female hypogonadism|premature ovarian failure|hypergonadotropic hypogonadism	http://purl.obolibrary.org/obo/MONDO_0005387	http://identifiers.org/snomedct/65846009|http://identifiers.org/mesh/D016649|http://purl.bioontology.org/ontology/ICD10CM/E28.3|UMLS:C0085215|DOID:5426|Orphanet:619|NCIT:C113352|http://identifiers.org/snomedct/370999003	
MONDO:0005386	biolink:Disease	peripheral arterial disease	A disorder of the arteries supplying the upper and lower extremity and the visceral organs. This includes the mesenteric arteries, the renal arteries and the aorta and excludes cerebrovascular arterial disease. Patients experience cramping and pain usually in the calves and thighs while walking. The symptoms subside with rest.	NCIT:C84496|ICD9:443.81|DOID:0050830|MESH:D058729|EFO:0004265|SCTID:399957001	mondo.json	peripheral artery disease|peripheral arterial disorder|pad	http://purl.obolibrary.org/obo/MONDO_0005386	http://identifiers.org/snomedct/399957001|http://identifiers.org/mesh/D058729|DOID:0050830|NCIT:C84496	
MONDO:0005389	biolink:Disease	obsolete sclerosing cholangitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005389		
MONDO:0005388	biolink:Disease	primary biliary cholangitis	Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure.	NCIT:C27167|SCTID:31712002|Orphanet:186|MESH:D008105|EFO:0004267|DOID:12236|OMIMPS:109720|GARD:0007459|UMLS:C0008312|MedDRA:10004661|MedDRA:10019137|ICD9:571.6	mondo.json	biliary cirrhosis, primary|PBC|chronic nonsuppurative destructive cholangitis|cholestatic cirrhosis|primary Bilary cirrhosis (PBC)|familial primary biliary cirrhosis|Hanot syndrome|biliary liver cirrhosis|primary biliary cirrhosis|chronic non-suppurative destructive cholangitis	http://purl.obolibrary.org/obo/MONDO_0005388	https://omim.org/phenotypicSeries/PS109720|http://identifiers.org/snomedct/31712002|Orphanet:186|http://identifiers.org/mesh/D008105|UMLS:C0008312|DOID:12236|NCIT:C27167	ordo_disease
MONDO:0005383	biolink:Disease	panic disorder	An anxiety disorder characterized by multiple unexpected panic attacks with persistent concern of recurring attacks. Panic disorder may or may not be accompanied by agoraphobia.	SCTID:371631005|MESH:D016584|EFO:0004262|DOID:594|ICD9:300.01|UMLS:CN240645|NCIT:C34890	mondo.json	panic anxiety syndrome	http://purl.obolibrary.org/obo/MONDO_0005383	DOID:594|NCIT:C34890|UMLS:CN240645|http://identifiers.org/snomedct/371631005|http://identifiers.org/mesh/D016584	
MONDO:0005382	biolink:Disease	bone Paget disease	A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue.	DOID:5408|EFO:0004261|Orphanet:280110|OMIMPS:167250|UMLS:C0029401|SCTID:2089002|NCIT:C3292	mondo.json	Pagets disease (bone)|Paget disease of bone|bone Paget's disease|osteitis deformans|familial Paget's disease of bone|Paget's disease of bone|Paget's disease of the bone|Paget's disease|osseous Paget's disease|Paget's bone disease|bone Paget disease	http://purl.obolibrary.org/obo/MONDO_0005382	DOID:5408|Orphanet:280110|https://omim.org/phenotypicSeries/PS167250|UMLS:C0029401|http://identifiers.org/snomedct/2089002|NCIT:C3292	
MONDO:0005385	biolink:Disease	vascular disorder	A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome.	ICD9:442.9|ICD10CM:I00-I99|NCIT:C35117|ICD10CM:I70-I79|SCTID:27550009|UMLS:C0042373|EFO:0004264|MESH:D014652|DOID:178	mondo.json	vasculature disease|vascular disorder|vascular tissue disease|vasculopathy|disease or disorder of vasculature|disease of vasculature|vasculature disease or disorder|disorder of vasculature	http://purl.obolibrary.org/obo/MONDO_0005385	NCIT:C35117|http://identifiers.org/mesh/D014652|DOID:178|UMLS:C0042373|http://purl.bioontology.org/ontology/ICD10CM/I70-I79|http://purl.bioontology.org/ontology/ICD10CM/I00-I99|http://identifiers.org/snomedct/27550009	
MONDO:0005384	biolink:Disease	partial epilepsy	A seizure caused by a localized disorder.	ICD9:345.50|SCTID:230381009|NCIT:C122812|DOID:2234|MESH:D004828|EFO:0004263|UMLS:C0014547	mondo.json	focal epilepsy|localisation-related epilepsy|partial epilepsy	http://purl.obolibrary.org/obo/MONDO_0005384	http://identifiers.org/mesh/D004828|UMLS:C0014547|NCIT:C122812|http://identifiers.org/snomedct/230381009|DOID:2234	
MONDO:0005381	biolink:Disease	bone disorder	Diseases of bones.	UMLS:CN204768|ICD10CM:M80-M85|MESH:D001847|Orphanet:364803|DOID:0080001|ICD9:731.8|SCTID:76069003|ICD9:733.99|UMLS:C0005940|EFO:0004260	mondo.json	disease or disorder of bone element|disease of bone element|rare bone disease related to a common gene or pathway defect|bone element disease|skeletal disease|bone element disease or disorder|disorder of bone element	http://purl.obolibrary.org/obo/MONDO_0005381	DOID:0080001|http://purl.bioontology.org/ontology/ICD10CM/M80-M85|http://identifiers.org/mesh/D001847|http://identifiers.org/snomedct/76069003|UMLS:C0005940	disease_grouping|ordo_group_of_disorders
CHEBI:60643	biolink:ChemicalSubstance	NMDA receptor antagonist	Any substance that inhibits the action of N-methyl-D-aspartate (NMDA) receptors. They tend to induce a state known as dissociative anesthesia, marked by catalepsy, amnesia, and analgesia, while side effects can include hallucinations, nightmares, and confusion. Due to their psychotomimetic effects, many NMDA receptor antagonists are used as recreational drugs.		mondo.json	NMDAR antagonists|NMDAR antagonist|N-methyl-D-aspartate receptor antagonist|NMDA receptor antagonists|N-methyl-D-aspartate receptor antagonists	http://purl.obolibrary.org/obo/CHEBI_60643		
MONDO:0005380	biolink:Disease	osteonecrosis	A none disease characterized by death of bone tissue due to a lack of blood supply.	SCTID:240196003|ICD9:733.44|DOID:10159|NCIT:C34880|ICD9:733.43|ICD10CM:M87|ICD9:732.3|ICD9:733.42|EFO:0004259|ICD9:733.41|Orphanet:399158|ICD9:733.4|GARD:0012057|MESH:D010020|NCIT:C35476|ICD9:733.49|DOID:0080008	mondo.json	aseptic necrosis|ischemic bone disease|osteonecrosis|bone necrosis	http://purl.obolibrary.org/obo/MONDO_0005380	DOID:0080008|NCIT:C35476|Orphanet:399158|NCIT:C34880|http://identifiers.org/mesh/D010020|http://identifiers.org/snomedct/240196003|http://purl.bioontology.org/ontology/ICD10CM/M87|DOID:10159	disease_grouping|ordo_group_of_disorders
MONDO:0017376	biolink:Disease	reactive arthritis	Reactive arthritis (ReA) is an autoimmune disorder belonging to the group of seronegative spondyloarthropathies and is characterized by the classic triad of arthritis, urethritis and conjunctivitis.	MedDRA:10038294|ICD9:711.30|EFO:0007460|UMLS:C0085435|ICD9:711.40|ICD9:099.3|DOID:6196|UMLS:CN203069|NCIT:C128332|MESH:D016918|MedDRA:10003267|SCTID:129133005|UMLS:C0035012|Orphanet:29207|GARD:0005693|ICD9:711.3	mondo.json	Reiter's disease|post-infectious reactive arthropathy|Reiter's syndrome|Reiter disease|post-bacterial arthropathy|Reiter syndrome|Fiessinger-Leroy disease|reactive arthritis|Fiessinger Leroy Reiter syndrome|polyarthritis enterica|postdysenteric arthropathy|arthritis urethritica|venereal arthritis|PIRA|post-infectious arthritis|Fiessinger-Leroy-Reiter syndrome	http://purl.obolibrary.org/obo/MONDO_0017376	Orphanet:29207|http://identifiers.org/mesh/D016918|DOID:6196|UMLS:C0085435|NCIT:C128332|UMLS:C0035012|http://identifiers.org/snomedct/129133005|UMLS:CN203069	ordo_disease|gard_rare
MONDO:0017377	biolink:Disease	preaxial polydactyly-colobomata-intellectual disability syndrome	Preaxial polydactyly-colobomata-intellectual disability syndrome is characterised by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive.	UMLS:C2931655|Orphanet:2921|GARD:0004304|MESH:C537888|SCTID:733088002	mondo.json	short stature mental retardation type I preaxial polydactyly with colobomatous abnormalities|Pfeiffer Mayer syndrome|short stature intellectual disability type I preaxial polydactyly with colobomatous abnormalities|Pfeiffer-Mayer syndrome	http://purl.obolibrary.org/obo/MONDO_0017377	Orphanet:2921|http://identifiers.org/mesh/C537888|http://identifiers.org/snomedct/733088002|UMLS:C2931655	ordo_malformation_syndrome
MONDO:0030397	biolink:Disease	portal hypertension, noncirrhotic, 2		OMIM:619463	mondo.json	NCPH2	http://purl.obolibrary.org/obo/MONDO_0030397	https://omim.org/entry/619463	
MONDO:0017378	biolink:Disease	obsolete polymicrogyria-turricephaly-hypogenitalism syndrome		UMLS:CN227120|Orphanet:2925	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017378	UMLS:CN227120|Orphanet:2925	
MONDO:0017379	biolink:Disease	polyneuropathy-intellectual disability-acromicria-premature menopause syndrome	Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971.	UMLS:CN203094|GARD:0004424|Orphanet:2928	mondo.json	polyneuropathy intellectual disability acromicria premature menopause|polyneuropathy mental retardation acromicria premature menopause|Lundberg syndrome|polyneuropathy - intellectual deficit - acromicria - premature menopause	http://purl.obolibrary.org/obo/MONDO_0017379	UMLS:CN203094|Orphanet:2928	ordo_malformation_syndrome
MONDO:0030399	biolink:Disease	visceral neuropathy, familial, 2, autosomal recessive		OMIM:619465	mondo.json	VSCN2	http://purl.obolibrary.org/obo/MONDO_0030399	https://omim.org/entry/619465	
MONDO:0017372	biolink:Disease	congenital varicella syndrome	Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection.	NCIT:C116800|SCTID:277644009|UMLS:C0343560|Orphanet:291|ICD9:771.2|GARD:0000045	mondo.json	Varicella embryopathy|fetal varicella infection|fetal effects of chickenpox|fetal effects of varicella zoster virus|mother-to-child transmission of varicella syndrome|Varicella virus antenatal infection|antenatal varicella virus infection|fetal varicella zoster syndrome	http://purl.obolibrary.org/obo/MONDO_0017372	Orphanet:291|UMLS:C0343560|NCIT:C116800|http://identifiers.org/snomedct/277644009	gard_rare|ordo_disease
MONDO:0017373	biolink:Disease	poliomyelitis	An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine.	Orphanet:2912|MESH:D011051|ICD9:045.90|ICD9:045|SCTID:398102009|DOID:4953|ICD9:045.9|MedDRA:10036012|GARD:0007413|ICD9:045.92|NCIT:C35550|UMLS:C0032371|EFO:0007450	mondo.json	Polia|polio|infantile paralysis|acute poliomyelitis|poliomyelitis	http://purl.obolibrary.org/obo/MONDO_0017373	NCIT:C35550|Orphanet:2912|http://identifiers.org/mesh/D011051|DOID:4953|http://identifiers.org/snomedct/398102009|UMLS:C0032371	ordo_disease
MONDO:0017374	biolink:Disease	obsolete polydactyly			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017374		
MONDO:0017375	biolink:Disease	congenital enterovirus infection	Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn.	SCTID:716865000|Orphanet:292|UMLS:C4274223	mondo.json	antenatal enterovirus infection|congenital enterovirus infection|congenital enterovirus infectious disease|mother-to-child transmission of enterovirus infection|congenital infection caused by enterovirus	http://purl.obolibrary.org/obo/MONDO_0017375	UMLS:C4274223|http://identifiers.org/snomedct/716865000|Orphanet:292	ordo_disease
MONDO:0017360	biolink:Disease	vitamin B12-unresponsive methylmalonic acidemia type mut0	Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.	SCTID:237945003|UMLS:CN203025|Orphanet:289916	mondo.json	complete deficiency of methylmalonyl-CoA mutase|vitamin B12-unresponsive methylmalonic aciduria type mut0	http://purl.obolibrary.org/obo/MONDO_0017360	http://identifiers.org/snomedct/237945003|UMLS:CN203025|Orphanet:289916	ordo_clinical_subtype
MONDO:0005398	biolink:Disease	upper aerodigestive tract neoplasm	Soft tissue tumors or cancer arising from the mucosal surfaces of the lip; oral cavity; pharynx; larynx; and cervical esophagus. Other sites included are the nose and paranasal sinuses; salivary glands; thyroid gland and parathyroid glands; and melanoma and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)	SCTID:439361000|EFO:0004284|ICD9:239.89	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005398	http://identifiers.org/snomedct/439361000	
MONDO:0005397	biolink:Disease	goiter	Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing.	DOID:12176|MESH:D006042|SCTID:3716002|HP:0000853|ICD9:240.9|NCIT:C26785|EFO:0004283	mondo.json	goitre|Thyromegaly|goiter|goiter (disease)	http://purl.obolibrary.org/obo/MONDO_0005397	http://identifiers.org/mesh/D006042|DOID:12176|NCIT:C26785|http://identifiers.org/snomedct/3716002	
MONDO:0005399	biolink:Disease	venous thromboembolism	Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream.	UMLS:C1861172|EFO:0004286|NCIT:C99537|MESH:D054556	mondo.json	venous thromboembolism	http://purl.obolibrary.org/obo/MONDO_0005399	UMLS:C1861172|http://identifiers.org/mesh/D054556|NCIT:C99537	
MONDO:0005394	biolink:Disease	brain infarction	Tissue necrosis in any area of the brain, including the cerebral hemispheres, the cerebellum, and the brain stem. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by hypoxia and hypoglycemia in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis.	DOID:3454|UMLS:C0751955|EFO:0004277|MESH:D020520	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005394	DOID:3454|UMLS:C0751955|http://identifiers.org/mesh/D020520	
MONDO:0005393	biolink:Disease	gout	A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals.	ICD9:274.0|ICD9:274|MESH:D006073|UMLS:C0018099|SCTID:190828008|ICD10CM:M10|ICD9:274.00|NCIT:C34650|EFO:0004274|DOID:13189|UMLS:C0003868|ICD9:274.9	mondo.json	gout|chronic gout|gouty arthropathy|tophaceous gout|gouty arthritis|tophaceous disease|articular gout	http://purl.obolibrary.org/obo/MONDO_0005393	NCIT:C34650|DOID:13189|http://identifiers.org/mesh/D006073|UMLS:C0018099|http://purl.bioontology.org/ontology/ICD10CM/M10|http://identifiers.org/snomedct/190828008|UMLS:C0003868	
MONDO:0005396	biolink:Disease	thoracic aortic aneurysm	An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.	SCTID:433068007|OMIM:611788|UMLS:C0162872|OMIM:607086|DOID:14004|EFO:0004282|Orphanet:91387|OMIM:615436|OMIM:132900|OMIM:613780|MESH:D017545|OMIM:607087	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005396	http://identifiers.org/snomedct/433068007|DOID:14004|UMLS:C0162872|http://identifiers.org/mesh/D017545	
MONDO:0005395	biolink:Disease	movement disorder	Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement.	EFO:0004280|MESH:D009069|DOID:480|ICD9:333.90|NCIT:C116757|ICD9:333.99|SCTID:60342002	mondo.json	movement disorder|movement disorders|movement disease	http://purl.obolibrary.org/obo/MONDO_0005395	http://identifiers.org/mesh/D009069|http://identifiers.org/snomedct/60342002|DOID:480|NCIT:C116757	
MONDO:0005390	biolink:Disease	obsolete cardiac arrhythmia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005390		
MONDO:0005392	biolink:Disease	scoliosis	A congenital or acquired spinal deformity characterized by lateral curvature of the spine.	ICD9:737.43|DOID:0060249|MESH:D012600|HP:0002650|SCTID:298382003|EFO:0004273|ICD10CM:M41|NCIT:C78603	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005392	http://identifiers.org/mesh/D012600|http://identifiers.org/snomedct/298382003|DOID:0060249|http://purl.bioontology.org/ontology/ICD10CM/M41|NCIT:C78603	
MONDO:0005391	biolink:Disease	restless legs syndrome	A condition that occurs while resting or lying in bed; it is characterized by an irresistible urgency to move the legs to obtain relief from a strange and uncomfortable sensation in the legs.	UMLS:C0035258|NCIT:C84501|ICD9:333.94|OMIMPS:102300|MESH:D012148|DOID:0050425|EFO:0004270|ICD9:333.99|SCTID:32914008|GARD:0011926|ICD10CM:G25.81	mondo.json	Willis-Ekbom disease|WED|Wittmaack-Ekbom syndrome|RLS|restless leg syndrome	http://purl.obolibrary.org/obo/MONDO_0005391	http://purl.bioontology.org/ontology/ICD10CM/G25.81|http://identifiers.org/mesh/D012148|DOID:0050425|UMLS:C0035258|http://identifiers.org/snomedct/32914008|https://omim.org/phenotypicSeries/PS102300|NCIT:C84501	
MONDO:0017369	biolink:Disease	obsolete autoinflammatory syndrome with immune deficiency		Orphanet:290839|UMLS:CN203042	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017369	UMLS:CN203042|Orphanet:290839	ordo_group_of_disorders
MONDO:0017365	biolink:Disease	hereditary acrokeratotic poikiloderma, Weary type		Orphanet:2907	mondo.json	congenital poikiloderma with bullae, Weary type	http://purl.obolibrary.org/obo/MONDO_0017365	Orphanet:2907	ordo_clinical_subtype
HP:0006562	biolink:PhenotypicFeature	Viral hepatitis	Inflammation of the liver due to infection with a virus.	SNOMEDCT_US:3738000|UMLS:C0042721	mondo.json		http://purl.obolibrary.org/obo/HP_0006562		
MONDO:0017366	biolink:Disease	hereditary pheochromocytoma-paraganglioma	Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas).	UMLS:C1708353|GARD:0011984|Orphanet:29072	mondo.json	hereditary pheochromocytoma-paraganglioma|familial pheochromocytoma-paraganglioma|hereditary paraganglioma-pheochromocytoma|SDHx-related paraganglioma-pheochromocytoma	http://purl.obolibrary.org/obo/MONDO_0017366	Orphanet:29072|UMLS:C1708353	ordo_disease|clingen|gard_rare
MONDO:0017367	biolink:Disease	obsolete kindler syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017367		
MONDO:0017368	biolink:Disease	obsolete systemic disease with skin involvement		Orphanet:290836|UMLS:CN203041	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017368	UMLS:CN203041|Orphanet:290836	disease_grouping|ordo_group_of_disorders
MONDO:0017361	biolink:Disease	congenital rubella syndrome	An infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects.	MESH:D012410|NCIT:C34992|Orphanet:290|EFO:0007218|GARD:0004744|UMLS:C0035921|MedDRA:10010618|SCTID:1857005|ICD9:771.0|ICD10CM:P35.0	mondo.json	rubella congenital|congenital rubella|CRS|fetal rubella syndrome|congenital rubella syndrome|mother-to-child transmission of rubella syndrome	http://purl.obolibrary.org/obo/MONDO_0017361	http://purl.bioontology.org/ontology/ICD10CM/P35.0|http://identifiers.org/snomedct/1857005|Orphanet:290|http://identifiers.org/mesh/D012410|NCIT:C34992|UMLS:C0035921	ordo_disease
MONDO:0017362	biolink:Disease	neuralgic amyotrophy	Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.	Orphanet:2901|MedDRA:10063020	mondo.json	brachial plexus neuritis|mononeuritis multiplex with brachial predilection|immune brachial plexus neuropathy|acute brachial plexus neuritis|neuralgic shoulder amyotrophy	http://purl.obolibrary.org/obo/MONDO_0017362	Orphanet:2901	ordo_disease
MONDO:0017363	biolink:Disease	idiopathic chronic eosinophilic pneumonia	A very rare, severe, interstitial lung disease of insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss).	Orphanet:2902|MESH:C535590|GARD:0001130	mondo.json	chronic eosinophilic pneumonia (CEP)|Carrington's disease|Carrington's pulmonary eosinophilia|eosinophilic idiopathic chronic pneumopathy|chronic eosinophilic pneumonia|Carrington syndrome|chronic idiopathic eosinophilic pneumonia	http://purl.obolibrary.org/obo/MONDO_0017363	Orphanet:2902|http://identifiers.org/mesh/C535590	gard_rare|ordo_disease
MONDO:0017364	biolink:Disease	POEMS syndrome	POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels.	SCTID:79268002|EFO:1001115|DOID:14039|MESH:D016878|NCIT:C80303|UMLS:C0085404|Orphanet:2905|GARD:0007411|MedDRA:10053869	mondo.json	Crow-Fukase syndrome|polyneuropathy organomegaly|polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome|Takatsuki syndrome|POEMS syndrome|osteosclerotic myeloma|polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome|PEP syndrome	http://purl.obolibrary.org/obo/MONDO_0017364	http://identifiers.org/mesh/D016878|UMLS:C0085404|Orphanet:2905|DOID:14039|NCIT:C80303|http://identifiers.org/snomedct/79268002	ordo_disease
HP:0006561	biolink:PhenotypicFeature	Lipid accumulation in hepatocytes		UMLS:C1837257	mondo.json		http://purl.obolibrary.org/obo/HP_0006561		
MONDO:0030329	biolink:Disease	megacystis-microcolon-intestinal hypoperistalsis syndrome 5		OMIM:619431	mondo.json	megacystis-microcolon-intestinal hypoperistalsis syndrome 5|MMIHS5	http://purl.obolibrary.org/obo/MONDO_0030329	https://omim.org/entry/619431	
HGNC:799	biolink:NamedThing	ATP1A1			mondo.json		http://identifiers.org/hgnc/799		
HGNC:795	biolink:NamedThing	ATM			mondo.json		http://identifiers.org/hgnc/795		
MONDO:0030326	biolink:Disease	mitochondrial dna depletion syndrome 16B (neuroophthalmic type)		OMIM:619425	mondo.json	mitochondrial dna depletion syndrome 16B (neuroophthalmic type)|MTDPS16B	http://purl.obolibrary.org/obo/MONDO_0030326	https://omim.org/entry/619425	
HGNC:794	biolink:NamedThing	ATIC			mondo.json		http://identifiers.org/hgnc/794		
MONDO:0044972	biolink:Disease	eosinophil disorder	A disease or disorder that involves the eosinophil.	SCTID:417967008|UMLS:C1691020	mondo.json	disorder of eosinophil|disease or disorder of eosinophil|disease of eosinophil|eosinophil disease or disorder	http://purl.obolibrary.org/obo/MONDO_0044972	UMLS:C1691020|http://identifiers.org/snomedct/417967008	
HGNC:791	biolink:NamedThing	ATF6			mondo.json		http://identifiers.org/hgnc/791		
MONDO:0044975	biolink:Disease	obsolete disease of transporter activity			mondo.json		http://purl.obolibrary.org/obo/MONDO_0044975		
MONDO:0044974	biolink:Disease	obsolete disease of supramolecular complex			mondo.json		http://purl.obolibrary.org/obo/MONDO_0044974		
GO:0007276	biolink:NamedThing	gamete generation	The generation and maintenance of gametes in a multicellular organism. A gamete is a haploid reproductive cell.		mondo.json	gametogenesis	http://purl.obolibrary.org/obo/GO_0007276		
GO:0007275	biolink:NamedThing	multicellular organism development	The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult).		mondo.json		http://purl.obolibrary.org/obo/GO_0007275		
MONDO:0044971	biolink:Disease	obsolete disease of macromolecular complex			mondo.json		http://purl.obolibrary.org/obo/MONDO_0044971		
GO:0007274	biolink:NamedThing	neuromuscular synaptic transmission	The process of synaptic transmission from a neuron to a muscle, across a synapse.		mondo.json		http://purl.obolibrary.org/obo/GO_0007274		
MONDO:0044970	biolink:Disease	mitochondrial disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0044970		
GO:0007283	biolink:NamedThing	spermatogenesis	The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.		mondo.json	generation of spermatozoa	http://purl.obolibrary.org/obo/GO_0007283		
MONDO:0044969	biolink:Disease	obsolete disease of membrane bound organelle			mondo.json		http://purl.obolibrary.org/obo/MONDO_0044969		
NCBITaxon:2172821	biolink:OrganismalEntity	Multicrustacea		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2172821		
GO:0007281	biolink:NamedThing	germ cell development	The process whose specific outcome is the progression of an immature germ cell over time, from its formation to the mature structure (gamete). A germ cell is any reproductive cell in a multicellular organism.		mondo.json	primordial germ cell development|germ-cell development	http://purl.obolibrary.org/obo/GO_0007281		
MONDO:0044965	biolink:Disease	obsolete abdominal and pelvic region disorder	OBSOLETE. A disease or disorder that involves the abdominal segment of trunk.	SCTID:609618002|UMLS:C3661988	mondo.json	disease of abdominal segment of trunk|abdominal segment of trunk disease|abdominal segment of trunk disease or disorder|disorder of abdominal segment of trunk|disease or disorder of abdominal segment of trunk	http://purl.obolibrary.org/obo/MONDO_0044965	UMLS:C3661988|http://identifiers.org/snomedct/609618002	
MONDO:0044967	biolink:Disease	obsolete limb disorder	OBSOLETE. A disease or disorder that involves the limb.	ICD9:V49.1|UMLS:C1290877|SCTID:128605003	mondo.json	disease or disorder of limb|disease of limb|limb disease|disorder of extremity|limb disease or disorder|disorder of limb	http://purl.obolibrary.org/obo/MONDO_0044967	UMLS:C1290877|http://identifiers.org/snomedct/128605003	
MONDO:0030332	biolink:Disease	ciliary dyskinesia, primary, 46		OMIM:619436	mondo.json	ciliary dyskinesia, primary, 46|CILD46	http://purl.obolibrary.org/obo/MONDO_0030332	https://omim.org/entry/619436	
MONDO:0030331	biolink:Disease	Ritscher-Schinzel syndrome 4		OMIM:619435	mondo.json	Ritscher-Schinzel syndrome 4|RTSC4	http://purl.obolibrary.org/obo/MONDO_0030331	https://omim.org/entry/619435	
MONDO:0030334	biolink:Disease	encephalitis, acute, infection (viral)-induced, susceptibility to, 11		OMIM:619441	mondo.json	encephalitis, acute, infection (viral)-induced, susceptibility to, 11|IIAE11	http://purl.obolibrary.org/obo/MONDO_0030334	https://omim.org/entry/619441	
MONDO:0030333	biolink:Disease	immunodeficiency 84		OMIM:619437	mondo.json	immunodeficiency due to IKZF3 deficiency|IMD84|immunodeficiency 84	http://purl.obolibrary.org/obo/MONDO_0030333	https://omim.org/entry/619437	
MONDO:0030330	biolink:Disease	cardiomyopathy, familial restrictive, 6		OMIM:619433	mondo.json	RCM6|cardiomyopathy, familial restrictive, 6	http://purl.obolibrary.org/obo/MONDO_0030330	https://omim.org/entry/619433	
GO:0032230	biolink:NamedThing	positive regulation of synaptic transmission, GABAergic	Any process that activates, maintains or increases the frequency, rate or extent of GABAergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter gamma-aminobutyric acid (GABA).		mondo.json	upregulation of synaptic transmission, GABAergic|up regulation of synaptic transmission, GABAergic|stimulation of synaptic transmission, GABAergic|up-regulation of synaptic transmission, GABAergic|activation of synaptic transmission, GABAergic	http://purl.obolibrary.org/obo/GO_0032230		
MONDO:0030339	biolink:Disease	microcephaly 28, primary, autosomal recessive		OMIM:619453	mondo.json	microcephaly 28, primary, autosomal recessive|MCPH28	http://purl.obolibrary.org/obo/MONDO_0030339	https://omim.org/entry/619453	
GO:0032229	biolink:NamedThing	negative regulation of synaptic transmission, GABAergic	Any process that stops, prevents, or reduces the frequency, rate or extent of GABAergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter gamma-aminobutyric acid (GABA).		mondo.json	downregulation of synaptic transmission, GABAergic|down regulation of synaptic transmission, GABAergic|inhibition of synaptic transmission, GABAergic|down-regulation of synaptic transmission, GABAergic	http://purl.obolibrary.org/obo/GO_0032229		
MONDO:0030335	biolink:Disease	diarrhea 12, with microvillus atrophy		OMIM:619445	mondo.json	microvillus inclusion disease 2|DIAR12|diarrhea 12, with microvillus atrophy	http://purl.obolibrary.org/obo/MONDO_0030335	https://omim.org/entry/619445	
GO:0032228	biolink:NamedThing	regulation of synaptic transmission, GABAergic	Any process that modulates the frequency, rate or extent of GABAergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter gamma-aminobutyric acid (GABA).		mondo.json		http://purl.obolibrary.org/obo/GO_0032228		
MONDO:0030338	biolink:Disease	anencephaly 2		OMIM:619452	mondo.json	ANPH2|anencephaly 2	http://purl.obolibrary.org/obo/MONDO_0030338	https://omim.org/entry/619452	
MONDO:0030337	biolink:Disease	cutis laxa, autosomal recessive, type 2E		OMIM:619451	mondo.json	cutis laxa, autosomal recessive, type 2E|ARCL2E|cutis laxa, autosomal recessive, type IIE	http://purl.obolibrary.org/obo/MONDO_0030337	https://omim.org/entry/619451	
MONDO:0044984	biolink:Disease	nasolacrimal duct disorder	A disease or disorder that involves the nasolacrimal duct.	SCTID:95767006|UMLS:C0521744	mondo.json	disorder of nasolacrimal duct|disease or disorder of nasolacrimal duct|nasolacrimal duct disease or disorder|nasolacrimal duct disease|disease of nasolacrimal duct	http://purl.obolibrary.org/obo/MONDO_0044984	UMLS:C0521744|http://identifiers.org/snomedct/95767006	
MONDO:0044983	biolink:Disease	benign lipomatous neoplasm	A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma.	NCIT:C4502	mondo.json	benign tumor of the adipose tissue|benign neoplasm of adipose tissue|benign adipose tissue tumor|benign neoplasm of the adipose tissue|adipose tissue benign connective and soft tissue neoplasm|benign tumor of adipose tissue|benign lipomatous tumor|benign lipomatous neoplasm|benign adipose tissue neoplasm|benign connective and soft tissue neoplasm of adipose tissue	http://purl.obolibrary.org/obo/MONDO_0044983	NCIT:C4502	
MONDO:0044986	biolink:Disease	lymphoid system disorder	A disease or disorder that involves the lymphoid system.	SCTID:111590001	mondo.json	disorder of lymphoid system|disease or disorder of lymphoid system|lymphoid system disease or disorder|lymphoid system disease|disease of lymphoid system	http://purl.obolibrary.org/obo/MONDO_0044986	http://identifiers.org/snomedct/111590001	
GO:0007289	biolink:NamedThing	spermatid nucleus differentiation	The specialization of the spermatid nucleus during the development of a spermatid into a mature male gamete competent for fertilization.		mondo.json	spermatid nuclear differentiation	http://purl.obolibrary.org/obo/GO_0007289		
GO:0007288	biolink:NamedThing	sperm axoneme assembly	The assembly and organization of the sperm flagellar axoneme, the bundle of microtubules and associated proteins that forms the core of the eukaryotic sperm flagellum, and is responsible for movement.		mondo.json		http://purl.obolibrary.org/obo/GO_0007288		
MONDO:0044980	biolink:Disease	obsolete disease of signal transduction			mondo.json		http://purl.obolibrary.org/obo/MONDO_0044980		
GO:0007286	biolink:NamedThing	spermatid development	The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure.		mondo.json	spermatid cell development|spermiogenesis	http://purl.obolibrary.org/obo/GO_0007286		
MONDO:0044982	biolink:Disease	drug pseudoallergy		UMLS:C3662272|SCTID:609398007	mondo.json	drug pseudoallergy|drug allergy	http://purl.obolibrary.org/obo/MONDO_0044982	UMLS:C3662272|http://identifiers.org/snomedct/609398007	
MONDO:0044981	biolink:Disease	pseudoallergy		SCTID:609397002|ICD9:V15.09|UMLS:C3662273	mondo.json	pseudoallergy to substance	http://purl.obolibrary.org/obo/MONDO_0044981	UMLS:C3662273|http://identifiers.org/snomedct/609397002	
GO:0007292	biolink:NamedThing	female gamete generation	Generation of the female gamete; specialised haploid cells produced by meiosis and along with a male gamete takes part in sexual reproduction.		mondo.json		http://purl.obolibrary.org/obo/GO_0007292		
MONDO:0044977	biolink:Disease	obsolete disease of receptor activity			mondo.json		http://purl.obolibrary.org/obo/MONDO_0044977		
MONDO:0044976	biolink:Disease	obsolete disease of catalytic activity		UMLS:C0520572|SCTID:78548001	mondo.json	enzyme disorder|enzymopathy	http://purl.obolibrary.org/obo/MONDO_0044976	UMLS:C0520572|http://identifiers.org/snomedct/78548001	
MONDO:0044979	biolink:Disease	obsolete disease by cell type			mondo.json		http://purl.obolibrary.org/obo/MONDO_0044979		metaclass
MONDO:0044978	biolink:Disease	obsolete disease of cell nucleus			mondo.json		http://purl.obolibrary.org/obo/MONDO_0044978		
GO:0032224	biolink:NamedThing	positive regulation of synaptic transmission, cholinergic	Any process that activates, maintains or increases the frequency, rate or extent of cholinergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter acetylcholine.		mondo.json	upregulation of synaptic transmission, cholinergic|up regulation of synaptic transmission, cholinergic|stimulation of synaptic transmission, cholinergic|up-regulation of synaptic transmission, cholinergic|activation of synaptic transmission, cholinergic	http://purl.obolibrary.org/obo/GO_0032224		
GO:0032223	biolink:NamedThing	negative regulation of synaptic transmission, cholinergic	Any process that stops, prevents, or reduces the frequency, rate or extent of cholinergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter acetylcholine.		mondo.json	down regulation of synaptic transmission, cholinergic|inhibition of synaptic transmission, cholinergic|down-regulation of synaptic transmission, cholinergic|downregulation of synaptic transmission, cholinergic	http://purl.obolibrary.org/obo/GO_0032223		
NBO:0000034	biolink:NamedThing	sexual activity	"Behaviour related to the activity which primary purpose is the sexual reproduction." [NBO:GVG]		mondo.json	sexual actions	http://purl.obolibrary.org/obo/NBO_0000034		
GO:0032222	biolink:NamedThing	regulation of synaptic transmission, cholinergic	Any process that modulates the frequency, rate or extent of cholinergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter acetylcholine.		mondo.json		http://purl.obolibrary.org/obo/GO_0032222		
MONDO:0030341	biolink:Disease	myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive		OMIM:619461	mondo.json	CMS7B|myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0030341	https://omim.org/entry/619461	
HGNC:779	biolink:NamedThing	ATCAY			mondo.json		http://identifiers.org/hgnc/779		
GO:0022890	biolink:NamedThing	inorganic cation transmembrane transporter activity	Enables the transfer of inorganic cations from one side of a membrane to the other. Inorganic cations are atoms or small molecules with a positive charge that do not contain carbon in covalent linkage.		mondo.json	divalent inorganic cation transmembrane transporter activity|monovalent inorganic cation transmembrane transporter activity|di-, tri-valent inorganic cation transmembrane transporter activity|trivalent inorganic cation transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0022890		
HGNC:777	biolink:NamedThing	ZFHX3			mondo.json		http://identifiers.org/hgnc/777		
GO:0032218	biolink:NamedThing	riboflavin transport	The directed movement of riboflavin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Riboflavin (vitamin B2) is a water-soluble B-complex vitamin, converted in the cell to FMN and FAD, cofactors required for the function of flavoproteins.		mondo.json		http://purl.obolibrary.org/obo/GO_0032218		
HGNC:775	biolink:NamedThing	SERPINC1			mondo.json		http://identifiers.org/hgnc/775		
MONDO:0030346	biolink:Disease	ciliary dyskinesia, primary, 47, and lissencephaly		OMIM:619466	mondo.json	ciliary dyskinesia, primary, 47, and lissencephaly|CILD47	http://purl.obolibrary.org/obo/MONDO_0030346	https://omim.org/entry/619466	
GO:0032217	biolink:NamedThing	riboflavin transmembrane transporter activity	Enables the transfer of riboflavin from one side of a membrane to the other. Riboflavin (vitamin B2) is a water-soluble B-complex vitamin, converted in the cell to FMN and FAD, cofactors required for the function of flavoproteins.		mondo.json	riboflavin transporter activity	http://purl.obolibrary.org/obo/GO_0032217		
MONDO:0044995	biolink:Disease	parasympathetic nervous system disorder	A disease or disorder that involves the parasympathetic nervous system.	SCTID:46091002	mondo.json	disease of parasympathetic nervous system|disorder of parasympathetic nervous system|disease or disorder of parasympathetic nervous system|parasympathetic nervous system disease or disorder|parasympathetic nervous system disease	http://purl.obolibrary.org/obo/MONDO_0044995	http://identifiers.org/snomedct/46091002	
MONDO:0044997	biolink:Disease	midbrain disorder	A disease or disorder that involves the midbrain.	SCTID:95641009|UMLS:C0521655	mondo.json	disease of midbrain|disorder of midbrain|disease or disorder of midbrain|midbrain disease or disorder|midbrain disease	http://purl.obolibrary.org/obo/MONDO_0044997	http://identifiers.org/snomedct/95641009|UMLS:C0521655	
MONDO:0044996	biolink:Disease	cerebral cortex disorder	A disease or disorder that involves the cerebral cortex.	UMLS:C1263847|SCTID:128128003	mondo.json	disease or disorder of cerebral cortex|cerebral cortex disease or disorder|cerebral cortex disease|disease of cerebral cortex|disorder of cerebral cortex	http://purl.obolibrary.org/obo/MONDO_0044996	http://identifiers.org/snomedct/128128003|UMLS:C1263847	
MONDO:0044991	biolink:Disease	upper digestive tract disorder	A disease or disorder that involves the upper digestive tract.	SCTID:119291004	mondo.json	upper gastrointestinal tract disease|disorder of upper gastrointestinal tract|disorder of upper digestive tract|disease or disorder of upper digestive tract|upper digestive tract disease or disorder|disease of upper digestive tract	http://purl.obolibrary.org/obo/MONDO_0044991	http://identifiers.org/snomedct/119291004	
MONDO:0044990	biolink:Disease	obsolete hand disorder	OBSOLETE. A disease or disorder that involves the manus.	UMLS:C1290871|SCTID:118933004	mondo.json	hand disease|disorder of manus|disorder of hand|disease or disorder of manus|manus disease or disorder|manus disease|disease of manus	http://purl.obolibrary.org/obo/MONDO_0044990	UMLS:C1290871|http://identifiers.org/snomedct/118933004	
MONDO:0044993	biolink:Disease	sympathetic nervous system disorder	A disease or disorder that involves the sympathetic nervous system.	SCTID:50330009	mondo.json	disease of sympathetic nervous system|disease or disorder of sympathetic nervous system|disorder of sympathetic nervous system|sympathetic nervous system disease or disorder|sympathetic nervous system disease	http://purl.obolibrary.org/obo/MONDO_0044993	http://identifiers.org/snomedct/50330009	
MONDO:0044992	biolink:Disease	mouth mucosa disorder	A disease or disorder that involves the mouth mucosa.	SCTID:128046007|UMLS:C1290071	mondo.json	disease of mouth mucosa|disorder of mouth mucosa|disease or disorder of mouth mucosa|oral mucous membrane disease|disorder of oral mucous membrane|mouth mucosa disease or disorder	http://purl.obolibrary.org/obo/MONDO_0044992	UMLS:C1290071|http://identifiers.org/snomedct/128046007	
MONDO:0044988	biolink:Disease	obsolete hip region disorder	OBSOLETE. A disease or disorder that involves the hip.	UMLS:C1290862|SCTID:118935006	mondo.json	disease of hip|disorder of hip|disorder of hip region|disease or disorder of hip|hip disease|hip disease or disorder	http://purl.obolibrary.org/obo/MONDO_0044988	http://identifiers.org/snomedct/118935006|UMLS:C1290862	
MONDO:0044987	biolink:Disease	obsolete face disorder	OBSOLETE. A disease or disorder that involves the face.	UMLS:C1290857|SCTID:118930001	mondo.json	disease of face|disorder of face|disease or disorder of face|face disease or disorder|face disease	http://purl.obolibrary.org/obo/MONDO_0044987	http://identifiers.org/snomedct/118930001|UMLS:C1290857	
MONDO:0044989	biolink:Disease	obsolete foot disorder	OBSOLETE. A disease or disorder that involves the pes.	MESH:D005534|UMLS:C0016510|SCTID:118932009	mondo.json	disorder of pes|disease or disorder of pes|pes disease or disorder|foot disease|pes disease|disease of pes|disorder of foot	http://purl.obolibrary.org/obo/MONDO_0044989	http://identifiers.org/snomedct/118932009|http://identifiers.org/mesh/D005534|UMLS:C0016510	
GO:0019239	biolink:NamedThing	deaminase activity	Catalysis of the removal of an amino group from a substrate, producing a substituted or nonsubstituted ammonia (NH3/NH2R).		mondo.json		http://purl.obolibrary.org/obo/GO_0019239		
MONDO:0030354	biolink:Disease	facioscapulohumeral muscular dystrophy 3, digenic		OMIM:619477	mondo.json	FSHD3|facioscapulohumeral muscular dystrophy 3, digenic	http://purl.obolibrary.org/obo/MONDO_0030354	https://omim.org/entry/619477	
MONDO:0030353	biolink:Disease	Joubert syndrome 38		OMIM:619476	mondo.json	Joubert syndrome 38|JBTS38	http://purl.obolibrary.org/obo/MONDO_0030353	https://omim.org/entry/619476	
GO:0022898	biolink:NamedThing	regulation of transmembrane transporter activity	Any process that modulates the frequency, rate or extent of transmembrane transporter activity.		mondo.json		http://purl.obolibrary.org/obo/GO_0022898		
MONDO:0030356	biolink:Disease	short-rib thoracic dysplasia 21 without polydactyly		OMIM:619479	mondo.json	SRTD21|short-rib thoracic dysplasia 21 without polydactyly	http://purl.obolibrary.org/obo/MONDO_0030356	https://omim.org/entry/619479	
NBO:0000001	biolink:NamedThing	body part movement	A change of place or position of part of an organism that does not involve the entire organism [NBO:SMAC]		mondo.json	stationary movement	http://purl.obolibrary.org/obo/NBO_0000001		
MONDO:0030355	biolink:Disease	facioscapulohumeral muscular dystrophy 4, digenic		OMIM:619478	mondo.json	facioscapulohumeral muscular dystrophy 4, digenic|FSHD4|facioscapulohumeral muscular dystrophy 4, digenic, digenic dominant	http://purl.obolibrary.org/obo/MONDO_0030355	https://omim.org/entry/619478	
GO:0019232	biolink:NamedThing	perception of rate of movement	The series of events by which an organism senses the speed and direction of movement of the body and its parts.		mondo.json	kinesthesia	http://purl.obolibrary.org/obo/GO_0019232		
GO:0019233	biolink:NamedThing	sensory perception of pain	The series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal. Pain is medically defined as the physical sensation of discomfort or distress caused by injury or illness, so can hence be described as a harmful stimulus which signals current (or impending) tissue damage. Pain may come from extremes of temperature, mechanical damage, electricity or from noxious chemical substances. This is a neurological process.		mondo.json	nociception|perception of physiological pain	http://purl.obolibrary.org/obo/GO_0019233		
GO:0019230	biolink:NamedThing	proprioception	The series of events by which an organism senses the position, location, orientation, and movement of the body and its parts. Proprioception is mediated by proprioceptors, sensory nerve terminals found in muscles, tendons, and joint capsules, which give information concerning movements and position of the body. The receptors in the labyrinth are sometimes also considered proprioceptors.		mondo.json		http://purl.obolibrary.org/obo/GO_0019230		
NBO:0000007	biolink:NamedThing	mouth movement	The act of moving any of the tissues and hard structures surrounding the mouth other than teeth, jaws or filter structures [NBO:AC]		mondo.json	mouth part movement|other moved mouth parts	http://purl.obolibrary.org/obo/NBO_0000007		
NBO:0000006	biolink:NamedThing	learning and/or memory behavior	"Behavior related to the acquisition and processing of information and/or the storage and retrieval of this information over time." [GO:jic]		mondo.json	learning and/or memory behaviour	http://purl.obolibrary.org/obo/NBO_0000006		
GO:0007269	biolink:NamedThing	neurotransmitter secretion	The regulated release of neurotransmitter from the presynapse into the synaptic cleft via calcium-regulated exocytosis during synaptic transmission.		mondo.json	neurotransmitter release|neurotransmitter secretory pathway	http://purl.obolibrary.org/obo/GO_0007269		
GO:0007268	biolink:NamedThing	chemical synaptic transmission	The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.		mondo.json	synaptic transmission|signal transmission across a synapse|neurotransmission	http://purl.obolibrary.org/obo/GO_0007268		
GO:0007267	biolink:NamedThing	cell-cell signaling	Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell.  Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions.		mondo.json	cell-cell signalling	http://purl.obolibrary.org/obo/GO_0007267		
GO:0007265	biolink:NamedThing	Ras protein signal transduction	The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state.		mondo.json	Ras mediated signal transduction	http://purl.obolibrary.org/obo/GO_0007265		
GO:0007264	biolink:NamedThing	small GTPase mediated signal transduction	The series of molecular signals in which a small monomeric GTPase relays a signal.		mondo.json	small GTPase-mediated signal transduction	http://purl.obolibrary.org/obo/GO_0007264		
GO:0007272	biolink:NamedThing	ensheathment of neurons	The process in which glial cells envelop neuronal cell bodies and/or axons to form an insulating layer. This can take the form of myelinating or non-myelinating ensheathment.		mondo.json	ionic insulation of neurons by glial cells	http://purl.obolibrary.org/obo/GO_0007272		
GO:0007271	biolink:NamedThing	synaptic transmission, cholinergic	The vesicular release of acetylcholine from a presynapse, across a chemical synapse, the subsequent activation of dopamine receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.		mondo.json	cholinergic synaptic transmission	http://purl.obolibrary.org/obo/GO_0007271		
MONDO:0044999	biolink:Disease	obsolete scalp disorder	OBSOLETE. A disease or disorder that involves the scalp.	UMLS:C0406629|SCTID:238922006	mondo.json	scalp disease or disorder|scalp disease|disease of scalp|disorder of scalp|disease or disorder of scalp	http://purl.obolibrary.org/obo/MONDO_0044999	UMLS:C0406629|http://identifiers.org/snomedct/238922006	
MONDO:0044998	biolink:Disease	obsolete carpal region disorder	OBSOLETE. A disease or disorder that involves the carpal region.	UMLS:C1290872|SCTID:128130001	mondo.json	wrist region disease|disorder of wrist region|disorder of carpal region|disease or disorder of carpal region|carpal region disease or disorder|disease of carpal region	http://purl.obolibrary.org/obo/MONDO_0044998	http://identifiers.org/snomedct/128130001|UMLS:C1290872	
GO:0046835	biolink:NamedThing	carbohydrate phosphorylation	The process of introducing a phosphate group into a carbohydrate, any organic compound based on the general formula Cx(H2O)y.		mondo.json		http://purl.obolibrary.org/obo/GO_0046835		
MONDO:0030366	biolink:Disease	cardiomyopathy, dilated, 2E		OMIM:619492	mondo.json	CMD2E|cardiomyopathy, dilated, 2E	http://purl.obolibrary.org/obo/MONDO_0030366	https://omim.org/entry/619492	
NBO:0000011	biolink:NamedThing	social behavior	"A behavior that occurs predominantly or only, in individuals that are part of a group." [Wikipedia:Social_behavior]		mondo.json	social behaviour	http://purl.obolibrary.org/obo/NBO_0000011		
NBO:0000010	biolink:NamedThing	reproductive behavior	Behavior directly related to the production of offspring [NBO:AC]		mondo.json	reproduction|reproductive behaviour	http://purl.obolibrary.org/obo/NBO_0000010		
MONDO:0030361	biolink:Disease	Aicardi-Goutieres syndrome 8	A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration ending in premature death. Brain imaging shows diffusely abnormal white matter, severe cerebral atrophy, and intracranial calcification.	OMIM:619486	mondo.json	AGS8|Aicardi-Goutieres syndrome 8	http://purl.obolibrary.org/obo/MONDO_0030361	https://omim.org/entry/619486	
MONDO:0030360	biolink:Disease	cholestasis, progressive familial intrahepatic, 6		OMIM:619484	mondo.json	PFIC6|cholestasis, progressive familial intrahepatic, 6	http://purl.obolibrary.org/obo/MONDO_0030360	https://omim.org/entry/619484	
MONDO:0030362	biolink:Disease	Aicardi-Goutieres syndrome 9	A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure.	OMIM:619487	mondo.json	AGS9|Aicardi-Goutieres syndrome 9	http://purl.obolibrary.org/obo/MONDO_0030362	https://omim.org/entry/619487	
MONDO:0005449	biolink:Disease	conduction system disorder	A disease involving the conducting system of heart.	EFO:0005137	mondo.json	disorder of conducting system of heart|disease or disorder of conducting system of heart|conducting system of heart disease|disease of conducting system of heart|conducting system of heart disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005449		
MONDO:0030407	biolink:Disease	obsolete rare disease with Cushing syndrome as a major feature			mondo.json		http://purl.obolibrary.org/obo/MONDO_0030407		
MONDO:0005446	biolink:Disease	cutaneous leishmaniasis	Leishmaniasis affecting the skin. It is the most common form of leishmaniasis. It presents with erythematous macules and papules, and nodules which may eventually ulcerate. The lesions appear in the bite site in the exposed skin areas.	ICD10CM:B55.1|NCIT:C34770|EFO:0005046|MESH:D016773|UMLS:C0023283|ICD9:085.2|SCTID:186807008|DOID:9111	mondo.json	Asian desert cutaneous leishmaniasis|zone of skin leishmaniasis|leproid leishmaniasis	http://purl.obolibrary.org/obo/MONDO_0005446	http://identifiers.org/snomedct/186807008|NCIT:C34770|UMLS:C0023283|http://purl.bioontology.org/ontology/ICD10CM/B55.1|DOID:9111|http://identifiers.org/mesh/D016773	
MONDO:0005445	biolink:Disease	visceral leishmaniasis	A severe form of leishmaniasis characterized by irregular bouts of fever, substantial weight loss, swelling of the spleen and liver, and anaemia (which may be serious). If left untreated it may lead to death. Two species of Leishmania are known to give rise to the visceral form of the disease. The species commonly found in East Africa and the Indian subcontinent is L. donovani and the species found in Europe, North Africa, and Latin America is L. infantum, also known as L. chagasi.	SCTID:186803007|ICD9:085.0|NCIT:C34771|MESH:D007898|UMLS:C0023290|EFO:0005045|OMIMPS:608207|DOID:9146|ICD10CM:B55.0	mondo.json	kala-azar|kala-azar, susceptibility to|kala-azar susceptibility|infection by visceral leishmaniasis|viscus leishmaniasis	http://purl.obolibrary.org/obo/MONDO_0005445	NCIT:C34771|UMLS:C0023290|http://identifiers.org/mesh/D007898|DOID:9146|http://purl.bioontology.org/ontology/ICD10CM/B55.0|https://omim.org/phenotypicSeries/PS608207|http://identifiers.org/snomedct/186803007	
MONDO:0005448	biolink:Disease	hepatitis C induced liver cirrhosis	Liver injury resulting from hepatitis C infection.	EFO:0005129	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005448		
MONDO:0005447	biolink:Disease	testicular cancer	A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma.	NCIT:C7251|DOID:2998|MESH:D013736|NCIT:C5053|GARD:0007746|ICD9:186|OMIM:273300|EFO:0005088|SCTID:363449006|ICD9:186.9	mondo.json	malignant testicular neoplasm|malignant tumor of the testis|malignant testis neoplasm|malignant neoplasm of testis|testicular tumor|cancer of testis|malignant neoplasm of the testis|testis cancer|testis neoplasm|malignant testicular tumor|malignant tumor of testis	http://purl.obolibrary.org/obo/MONDO_0005447	http://identifiers.org/snomedct/363449006|http://identifiers.org/mesh/D013736|NCIT:C7251|DOID:2998	
MONDO:0005442	biolink:Disease	obsolete type 1 diabetes nephropathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005442		
MONDO:0005441	biolink:Disease	otitis media	Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever.	DOID:10754|EFO:0004992|SCTID:65363002|HP:0000388|NCIT:C34885|MESH:D010033|UMLS:C0029882|ICD9:382.9	mondo.json	middle Ear Inflammation|medial otitis|middle ear inflammation|otitis media (disease)|otitis Media|inflammation of middle ear	http://purl.obolibrary.org/obo/MONDO_0005441	NCIT:C34885|http://identifiers.org/mesh/D010033|UMLS:C0029882|http://identifiers.org/snomedct/65363002|DOID:10754	
MONDO:0005444	biolink:Disease	obsolete leishmaniasis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005444		
MONDO:0005443	biolink:Disease	obsolete type 2 diabetes nephropathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005443		
MONDO:0005440	biolink:Disease	embryonal carcinoma	A non-seminomatous malignant germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum).	ONCOTREE:EMBCA|ICDO:9070/3|UMLS:C0206659|EFO:0004986|DOID:3308|Orphanet:180226|MESH:D018236|NCIT:C3752|GARD:0005140	mondo.json	carcinoma, embryonal, malignant|embryonal carcinoma|primary extragonadal embryonal carcinoma	http://purl.obolibrary.org/obo/MONDO_0005440	Orphanet:180226|UMLS:C0206659|DOID:3308|http://identifiers.org/mesh/D018236|NCIT:C3752	gard_rare|ordo_disease
MONDO:0017439	biolink:Disease	tetra-amelia		Orphanet:294971|GARD:0005148|MESH:C536498|HP:0003057|SCTID:702313004	mondo.json	tetra-amelia, autosomal recessive|total amelia|Tetraamelia, autosomal recessive|tetra-amelia syndrome	http://purl.obolibrary.org/obo/MONDO_0017439	http://identifiers.org/snomedct/702313004|http://identifiers.org/mesh/C536498|Orphanet:294971	ordo_morphological_anomaly
UBERON:0002085	biolink:AnatomicalEntity	interatrial septum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002085		
UBERON:0002084	biolink:AnatomicalEntity	heart left ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002084		
MONDO:0017435	biolink:Disease	popliteal pterygium syndrome	A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora.	UMLS:C0265259|NCIT:C118786|MESH:C562509|DOID:0060055|SCTID:66783006|ICD9:756.89|Orphanet:294963	mondo.json	PPS|facio-genito-popliteal syndrome	http://purl.obolibrary.org/obo/MONDO_0017435	http://identifiers.org/snomedct/66783006|NCIT:C118786|UMLS:C0265259|DOID:0060055|Orphanet:294963|http://identifiers.org/mesh/C562509	disease_grouping|ordo_group_of_disorders
UBERON:0002081	biolink:AnatomicalEntity	cardiac atrium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002081		
MONDO:0017436	biolink:Disease	lethal congenital contracture syndrome	A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.	Orphanet:294965|GARD:0012643|OMIMPS:253310|UMLS:CN239241|DOID:0060558	mondo.json	LCCS	http://purl.obolibrary.org/obo/MONDO_0017436	https://omim.org/phenotypicSeries/PS253310|DOID:0060558|Orphanet:294965|UMLS:CN239241	disease_grouping|ordo_group_of_disorders
UBERON:0002080	biolink:AnatomicalEntity	heart right ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002080		
MONDO:0017437	biolink:Disease	amelia of upper limb	A non-syndromic amelia that involves the forelimb.	SCTID:205306000|Orphanet:294967|HP:0009812	mondo.json	forelimb non-syndromic amelia|non-syndromic amelia of forelimb	http://purl.obolibrary.org/obo/MONDO_0017437	Orphanet:294967|http://identifiers.org/snomedct/205306000	ordo_morphological_anomaly
MONDO:0017438	biolink:Disease	amelia of lower limb	A non-syndromic amelia that involves the hindlimb.	HP:0009818|Orphanet:294969|SCTID:265798000	mondo.json	hindlimb non-syndromic amelia|non-syndromic amelia of hindlimb	http://purl.obolibrary.org/obo/MONDO_0017438	http://identifiers.org/snomedct/265798000|Orphanet:294969	ordo_morphological_anomaly
UBERON:0002082	biolink:AnatomicalEntity	cardiac ventricle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002082		
MONDO:0017431	biolink:Disease	non-syndromic limb overgrowth		Orphanet:294953	mondo.json	limb overgrowth	http://purl.obolibrary.org/obo/MONDO_0017431	Orphanet:294953	ordo_group_of_disorders|disease_grouping
MONDO:0017432	biolink:Disease	obsolete syndrome with limb reduction defects		Orphanet:294955|UMLS:CN203180	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017432	Orphanet:294955|UMLS:CN203180	ordo_group_of_disorders
MONDO:0017433	biolink:Disease	obsolete dysostosis with combined reduction defects of upper and lower limbs		Orphanet:294957	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017433	Orphanet:294957	disease_grouping|ordo_group_of_disorders
MONDO:0017434	biolink:Disease	obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy		Orphanet:294959|UMLS:CN203181	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017434	Orphanet:294959|UMLS:CN203181	ordo_group_of_disorders
UBERON:0002089	biolink:AnatomicalEntity	thoracodorsal vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002089		
NCBITaxon:32443	biolink:OrganismalEntity	Teleostei		GC_ID:1	mondo.json	teleost fishes	http://purl.obolibrary.org/obo/NCBITaxon_32443		
MONDO:0017430	biolink:Disease	non-syndromic congenital joint dislocations		Orphanet:294951	mondo.json	congenital joint dislocations	http://purl.obolibrary.org/obo/MONDO_0017430	Orphanet:294951	ordo_group_of_disorders|disease_grouping
MONDO:0005457	biolink:Disease	obsolete acute stress reaction			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005457		
MONDO:0005456	biolink:Disease	obsolete avian influenza			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005456		
NCBITaxon:44417	biolink:OrganismalEntity	Cyclospora		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_44417		
MONDO:0005459	biolink:Disease	human African trypanosomiasis	A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death.	NCIT:C84541|UMLS:C0041228|MESH:D014353|GARD:0007826|EFO:0005225|DOID:10112|MedDRA:10001461|SCTID:27031003|Orphanet:3385|KEGG:05143|ICD9:086.5	mondo.json	African sleeping sickness|Africam sleeping sickness|African trypanosomiasis|sleeping sickness	http://purl.obolibrary.org/obo/MONDO_0005459	http://identifiers.org/snomedct/27031003|UMLS:C0041228|DOID:10112|NCIT:C84541|Orphanet:3385	ordo_disease
MONDO:0005458	biolink:Disease	obsolete q fever			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005458		
MONDO:0005453	biolink:Disease	congenital heart disease	A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale.	ICD9:746.9|MESH:D006330|UMLS:CN169364|SCTID:13213009|ICD9:746.89|NCIT:C95834|DOID:1682|ICD9:746.84|EFO:0005207	mondo.json	heart-congenital defect|heart, malformation Of|heart defect, congenital|defects, congenital heart|congenital heart defects|defect, congenital heart|abnormalities, heart|heart defect|Abnormality, heart|heart abnormality|heart abnormalities|heart malformation|congenital anomaly of heart|congenital heart defect	http://purl.obolibrary.org/obo/MONDO_0005453	http://identifiers.org/snomedct/13213009|http://identifiers.org/mesh/D006330|UMLS:CN169364|DOID:1682|NCIT:C95834	
MONDO:0005452	biolink:Disease	bulimia nervosa	A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image.	ICD9:307.51|MESH:D052018|EFO:0005204|NCIT:C97162|MESH:D002032|SCTID:78004001|ICD10CM:F50.2|NCIT:C34440|DOID:12129	mondo.json	hyperorexia nervosa|bulimia	http://purl.obolibrary.org/obo/MONDO_0005452	http://identifiers.org/snomedct/78004001|http://identifiers.org/mesh/D052018|DOID:12129|http://purl.bioontology.org/ontology/ICD10CM/F50.2|NCIT:C34440	
MONDO:0005455	biolink:Disease	obsolete cholangiocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005455		
MONDO:0005454	biolink:Disease	lung neuroendocrine neoplasm	A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma.	NCIT:C5670|ICD9:209.61|ONCOTREE:LNET|DOID:5410|EFO:0005220|SCTID:707594002|UMLS:C1334452	mondo.json	lung neuroendocrine neoplasm|neuroendocrine neoplasm of the lung|lung neuroendocrine tumor|pulmonary neuroendocrine tumor|pulmonary neuroendocrine neoplasm|lung NET|neuroendocrine neoplasm of lung|lung neuroendocrine tumor, well differentiated, low or intermediate grade	http://purl.obolibrary.org/obo/MONDO_0005454	http://identifiers.org/snomedct/707594002|NCIT:C5670|UMLS:C1334452|DOID:5410	
MONDO:0005451	biolink:Disease	eating disorder	A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake.	EFO:0005203|ICD9:307.59|DOID:8670|ICD9:307.50|NCIT:C89332|SCTID:72366004	mondo.json	feeding and eating disorder|eating disorder	http://purl.obolibrary.org/obo/MONDO_0005451	http://identifiers.org/snomedct/72366004|DOID:8670|NCIT:C89332	
MONDO:0005450	biolink:Disease	obsolete autoimmune disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005450		
HP:0006504	biolink:PhenotypicFeature	obsolete Anomaly of the limb diaphyses morphology			mondo.json	Abnormality of shaft of long bone of the limbs	http://purl.obolibrary.org/obo/HP_0006504		
MONDO:0017428	biolink:Disease	congenital deformities of fingers		Orphanet:294947	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017428	Orphanet:294947	ordo_group_of_disorders|disease_grouping
UBERON:0002074	biolink:AnatomicalEntity	hair shaft			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002074		
MONDO:0017429	biolink:Disease	joint formation defects		Orphanet:294949	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017429	Orphanet:294949	disease_grouping|ordo_group_of_disorders
UBERON:0002073	biolink:AnatomicalEntity	hair follicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002073		
UBERON:0002076	biolink:AnatomicalEntity	cuticle of hair			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002076		
UBERON:0002075	biolink:AnatomicalEntity	viscus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002075		
MONDO:0017424	biolink:Disease	non-syndromic brachydactyly		SCTID:43476002|Orphanet:294937	mondo.json	isolated brachydactyly|nonsyndromic brachydactyly|brachydactyly	http://purl.obolibrary.org/obo/MONDO_0017424	http://identifiers.org/snomedct/43476002|Orphanet:294937	ordo_group_of_disorders|disease_grouping
MONDO:0017425	biolink:Disease	preaxial polydactyly of fingers	Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers. Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity.	GARD:0012767|Orphanet:294939|OMIMPS:174400	mondo.json	preaxial polydactyly of hand	http://purl.obolibrary.org/obo/MONDO_0017425	https://omim.org/phenotypicSeries/PS174400|Orphanet:294939	disease_grouping|ordo_group_of_disorders|gard_rare
MONDO:0017426	biolink:Disease	postaxial polydactyly of fingers		SCTID:205131007|GARD:0012460|Orphanet:294942	mondo.json	postaxial polydactyly of hand	http://purl.obolibrary.org/obo/MONDO_0017426	http://identifiers.org/snomedct/205131007|Orphanet:294942	disease_grouping|ordo_group_of_disorders
UBERON:0002072	biolink:AnatomicalEntity	hypodermis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002072		
MONDO:0017427	biolink:Disease	congenital deformities of limbs		MedDRA:10024500|Orphanet:294944	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017427	Orphanet:294944	disease_grouping|ordo_group_of_disorders
MONDO:0017420	biolink:Disease	intercalary limb defects		Orphanet:294927	mondo.json	intercalary meromelia	http://purl.obolibrary.org/obo/MONDO_0017420	Orphanet:294927	disease_grouping|ordo_group_of_disorders
MONDO:0017421	biolink:Disease	non-syndromic terminal limb defects		Orphanet:294929	mondo.json	isolated terminal limb defects|terminal meromelia|nonsyndromic terminal limb defects|terminal limb defects	http://purl.obolibrary.org/obo/MONDO_0017421	Orphanet:294929	disease_grouping|ordo_group_of_disorders
MONDO:0017422	biolink:Disease	adactyly of hand		Orphanet:294931	mondo.json	fingers absent	http://purl.obolibrary.org/obo/MONDO_0017422	Orphanet:294931	disease_grouping|ordo_group_of_disorders
MONDO:0017423	biolink:Disease	split hand or/and split foot malformation		Orphanet:294935	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017423	Orphanet:294935	disease_grouping|ordo_group_of_disorders
UBERON:0002078	biolink:AnatomicalEntity	right cardiac atrium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002078		
UBERON:0002077	biolink:AnatomicalEntity	cortex of hair			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002077		
UBERON:0002079	biolink:AnatomicalEntity	left cardiac atrium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002079		
MONDO:0030428	biolink:Disease	immunodeficiency 85 and autoimmunity		OMIM:619510	mondo.json	IMD85	http://purl.obolibrary.org/obo/MONDO_0030428	https://omim.org/entry/619510	
MONDO:0005428	biolink:Disease	obsolete pemphigus vulgaris			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005428		
MONDO:0005427	biolink:Disease	obsolete vasuclar dementia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005427		
MONDO:0005429	biolink:Disease	prion disease	A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal.	DOID:649|ICD9:046.19|NCIT:C128346|EFO:0004720|MESH:D017096|KEGG:05020|SCTID:230284004	mondo.json	prion induced disorder|prion disease pathway|spongiform encephalopathy|prion protein disease	http://purl.obolibrary.org/obo/MONDO_0005429	DOID:649|NCIT:C128346|http://identifiers.org/snomedct/230284004|http://identifiers.org/mesh/D017096	
MONDO:0005424	biolink:Disease	elephantiasis	Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph.	SCTID:240820001|EFO:0004711|MESH:D004604|UMLS:C0013882|DOID:4976	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005424	UMLS:C0013882|DOID:4976|http://identifiers.org/mesh/D004604	
MONDO:0030423	biolink:Disease	congenital disorder of glycosylation, type 2v		OMIM:619493	mondo.json	CDG2V	http://purl.obolibrary.org/obo/MONDO_0030423	https://omim.org/entry/619493	
MONDO:0005423	biolink:Disease	obsolete pelvic organ prolapse			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005423		
MONDO:0005426	biolink:Disease	MRI defined brain infarct	An infarct detected by MRI and not determined to be clinically significant	EFO:0004715	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005426		
MONDO:0005425	biolink:Disease	podoconiosis	A disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils.	SCTID:47595008|EFO:0004712|ICD9:457.1|DOID:0050138	mondo.json	soil elephantiasis|non-filarial elephantiasis|nonfilarial elephantiasis|elephantiasis from soil	http://purl.obolibrary.org/obo/MONDO_0005425	http://identifiers.org/snomedct/47595008|DOID:0050138	
MONDO:0005420	biolink:Disease	hypothyroidism	Abnormally low levels of thyroid hormone.	EFO:0004705|DOID:1459|NCIT:C26800|SCTID:40930008|ICD9:244.9|MESH:D007037	mondo.json	thyroid deficiency|underactive thyroid|thyroid insufficiency|hypothyroid|hypothyroidism	http://purl.obolibrary.org/obo/MONDO_0005420	http://identifiers.org/mesh/D007037|DOID:1459|http://identifiers.org/snomedct/40930008|NCIT:C26800	
MONDO:0005422	biolink:Disease	obsolete nodular sclerosis Hodgkin lymphoma	OBSOLETE. A distinct, highly heritable Hodgkin lymphoma subtype.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0005422		
HGNC:27561	biolink:NamedThing	TSEN54			mondo.json		http://identifiers.org/hgnc/27561		
MONDO:0005421	biolink:Disease	obsolete infantile hypertrophic pyloric stenosis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005421		
MONDO:0017417	biolink:Disease	renal-hepatic-pancreatic dysplasia	A rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes.	UMLS:C2673883|DOID:0060259|Orphanet:294415|OMIMPS:208540|SCTID:763891005	mondo.json	Renohepaticopancreatic dysplasia|Ivemark's syndrome|Ivemark II syndrome	http://purl.obolibrary.org/obo/MONDO_0017417	https://omim.org/phenotypicSeries/PS208540|http://identifiers.org/snomedct/763891005|Orphanet:294415|DOID:0060259|UMLS:C2673883	ordo_malformation_syndrome
UBERON:0002063	biolink:AnatomicalEntity	sinus venosus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002063		
MONDO:0017418	biolink:Disease	chronic intestinal failure	Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease).	SCTID:716665002|UMLS:C4274352|Orphanet:294422|UMLS:CN203168	mondo.json	CIF	http://purl.obolibrary.org/obo/MONDO_0017418	UMLS:CN203168|UMLS:C4274352|http://identifiers.org/snomedct/716665002|Orphanet:294422	ordo_clinical_syndrome
UBERON:0002062	biolink:AnatomicalEntity	endocardial cushion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002062		
MONDO:0017419	biolink:Disease	non-syndromic amelia	A congenital malformation characterized by the complete absence of all limbs.	SCTID:62588002|Orphanet:294925|NCIT:C34370|HP:0009827|MedDRA:10001926	mondo.json	isolated amelia|nonsyndromic amelia|amelia	http://purl.obolibrary.org/obo/MONDO_0017419	NCIT:C34370|http://identifiers.org/snomedct/62588002|Orphanet:294925	ordo_group_of_disorders|disease_grouping
MONDO:0017413	biolink:Disease	Reunion island Larsen syndrome		Orphanet:294049|UMLS:CN203163|EFO:0002319	mondo.json	RLS|multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0017413	Orphanet:294049|UMLS:CN203163	ordo_disease
MONDO:0017414	biolink:Disease	obsolete rare nevus	OBSOLETE. Rare nevus.	Orphanet:294057	mondo.json	rare melanocytic nevus|rare nevus	http://purl.obolibrary.org/obo/MONDO_0017414	Orphanet:294057	obsoletion_candidate|disease_grouping|ordo_group_of_disorders
MONDO:0017415	biolink:Disease	multiple pterygium syndrome		OMIM:312150|DOID:0080110|SCTID:205819008|ICD9:755.8|Orphanet:294060|MESH:C537377	mondo.json	pterygium syndrome	http://purl.obolibrary.org/obo/MONDO_0017415	DOID:0080110|http://identifiers.org/mesh/C537377|Orphanet:294060|http://identifiers.org/snomedct/205819008	ordo_group_of_disorders|disease_grouping
OBO:ECTO_0000173	biolink:NamedThing	exposure to corticosteroid	An exposure to corticosteroid.		mondo.json	exposure to corticosteroid	http://purl.obolibrary.org/obo/ECTO_0000173		
UBERON:0002061	biolink:AnatomicalEntity	truncus arteriosus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002061		
MONDO:0017416	biolink:Disease	postpoliomyelitis syndrome	Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing.	Orphanet:2942|DOID:4952|SCTID:31097004|UMLS:C0080040|MESH:D016262|GARD:0004454|EFO:0007454	mondo.json	post-polio sequelae|post-polio muscular atrophy|postpolio syndrome|polio late effects|postpoliomyelitic syndrome|postpoliomyelitis sequelae|post-poliomyelitic syndrome|post polio syndrome|postpoliomyelitis syndrome|postpolio sequelae	http://purl.obolibrary.org/obo/MONDO_0017416	http://identifiers.org/snomedct/31097004|Orphanet:2942|DOID:4952|UMLS:C0080040|http://identifiers.org/mesh/D016262	ordo_disease
UBERON:0002060	biolink:AnatomicalEntity	femoral artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002060		
MONDO:0017410	biolink:Disease	porencephaly	Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric grey matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly.	MESH:D065708|Orphanet:2940|DOID:0060263|MedDRA:10036172|HP:0002132|GARD:0007430	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017410	Orphanet:2940|http://identifiers.org/mesh/D065708|DOID:0060263	ordo_disease|gard_rare
MONDO:0030430	biolink:Disease	spermatogenic failure 56		OMIM:619515	mondo.json	SPGF56	http://purl.obolibrary.org/obo/MONDO_0030430	https://omim.org/entry/619515	
MONDO:0030433	biolink:Disease	Charcot-Marie-Tooth disease, axonal, type 2FF		OMIM:619519	mondo.json	CMT2FF|Charcot-Marie-Tooth neuropathy	http://purl.obolibrary.org/obo/MONDO_0030433	https://omim.org/entry/619519	
MONDO:0017411	biolink:Disease	neonatal inflammatory skin and bowel disease	Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.	Orphanet:294023|OMIMPS:614328|UMLS:CN228266	mondo.json	inflammatory skin and bowel disease, neonatal	http://purl.obolibrary.org/obo/MONDO_0017411	Orphanet:294023|https://omim.org/phenotypicSeries/PS614328|UMLS:CN228266	ordo_disease
MONDO:0017412	biolink:Disease	obsolete 2q31.1 microduplication syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017412		
UBERON:0002067	biolink:AnatomicalEntity	dermis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002067		
UBERON:0002069	biolink:AnatomicalEntity	stratum granulosum of epidermis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002069		
UBERON:0002068	biolink:AnatomicalEntity	urachus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002068		
MONDO:0005439	biolink:Disease	familial hypercholesterolemia	An inheritable form of hyperlipidemia, in which there are excess lipids in the blood.	Orphanet:477811|DOID:13810|EFO:0004911|ICD9:V19.8|OMIMPS:143890|SCTID:190773008|UMLS:CN118841|NCIT:C34704	mondo.json	familial hypercholesteremia|familial hyperbetalipoproteinaemia|type II hyperlipidemia|hyperlipoproteinemia type II|Fredrickson type IIa lipidaemia|hyperbetalipoproteinemia|Fredrickson type IIa hyperlipoproteinemia	http://purl.obolibrary.org/obo/MONDO_0005439	UMLS:CN118841|NCIT:C34704|http://identifiers.org/snomedct/190773008|DOID:13810|https://omim.org/phenotypicSeries/PS143890	
MONDO:0030439	biolink:Disease	spermatogenic failure 57		OMIM:619528	mondo.json	SPGF57	http://purl.obolibrary.org/obo/MONDO_0030439	https://omim.org/entry/619528	
MONDO:0005438	biolink:Disease	metastatic malignant neoplasm in the lymph nodes	The spread of a malignant neoplasm to the lymph nodes.	NCIT:C4904|UMLS:C0686619|EFO:0004906	mondo.json	metastatic neoplasm to the lymph node|metastatic tumor to lymph node|metastasis to lymph node|metastatic malignant neoplasm to the lymph nodes|Metastases to lymph nodes	http://purl.obolibrary.org/obo/MONDO_0005438	NCIT:C4904|UMLS:C0686619	
MONDO:0030438	biolink:Disease	pontocerebellar hypoplasia, type 16		OMIM:619527	mondo.json	PCH16	http://purl.obolibrary.org/obo/MONDO_0030438	https://omim.org/entry/619527	
MONDO:0005435	biolink:Disease	anti-neutrophil antibody associated vasculitis	Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls.	EFO:0004826	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005435		
MONDO:0030434	biolink:Disease	epilepsy, idiopathic generalized, susceptibility to, 18		OMIM:619521	mondo.json	EIG18	http://purl.obolibrary.org/obo/MONDO_0030434	https://omim.org/entry/619521	
MONDO:0005434	biolink:Disease	skin sensitivity to sun	The response of human skin to sun exposure.	EFO:0004795	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005434		
MONDO:0005437	biolink:Disease	testicular dysgenesis syndrome	A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis.	SCTID:445338005|EFO:0004893|UMLS:C2919755	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005437	UMLS:C2919755|http://identifiers.org/snomedct/445338005	
MONDO:0030437	biolink:Disease	congenital disorder of glycosylation, type IIw		OMIM:619525	mondo.json	CDG2W	http://purl.obolibrary.org/obo/MONDO_0030437	https://omim.org/entry/619525	
MONDO:0030436	biolink:Disease	anemia, sideroblastic, 5		OMIM:619523	mondo.json	SIDBA5	http://purl.obolibrary.org/obo/MONDO_0030436	https://omim.org/entry/619523	
MONDO:0005436	biolink:Disease	postoperative ventricular dysfunction	Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality.	EFO:0004889	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005436		
MONDO:0005431	biolink:Disease	obsolete toxic epidermal necrolysis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005431		
MONDO:0005430	biolink:Disease	early onset hypertension	A form of hypertension with early onset relative to normal range for a given population.	EFO:0004772	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005430		
MONDO:0005433	biolink:Disease	alcohol withdrawal		SCTID:191480000|EFO:0004777|UMLS:C0236663|ICD9:291.81	mondo.json	alcohol withdrawal syndrome	http://purl.obolibrary.org/obo/MONDO_0005433	UMLS:C0236663|http://identifiers.org/snomedct/191480000	
MONDO:0005432	biolink:Disease	alcohol and nicotine codependence	A drug dependence that is the physiological result of being addicted to alcohol and nicotine.	EFO:0004776	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005432		
UBERON:0002052	biolink:AnatomicalEntity	adrenal gland capsule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002052		
MONDO:0017406	biolink:Disease	hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome		UMLS:CN203156|Orphanet:293967	mondo.json	hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0017406	Orphanet:293967|UMLS:CN203156	ordo_malformation_syndrome
MONDO:0017407	biolink:Disease	deficiency in anterior pituitary function - variable immunodeficiency syndrome		Orphanet:293978	mondo.json	David syndrome	http://purl.obolibrary.org/obo/MONDO_0017407	Orphanet:293978	ordo_disease
UBERON:0002051	biolink:AnatomicalEntity	epithelium of bronchiole			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002051		
MONDO:0017408	biolink:Disease	rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome	A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin.	Orphanet:293987|GARD:0010407|UMLS:C4053506|UMLS:CN203158|NCIT:C121944	mondo.json	rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome|ROHHAD|ROHHADNET|rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome|ROHHAD syndrome|rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation|rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation	http://purl.obolibrary.org/obo/MONDO_0017408	UMLS:C4053506|Orphanet:293987|UMLS:CN203158|NCIT:C121944	ordo_disease
MONDO:0017409	biolink:Disease	fetal cytomegalovirus syndrome	An infection with the Cytomegalovirus that is present from birth.	GARD:0001409|GARD:0001480|SCTID:276701009|Orphanet:294|UMLS:C0349499|NCIT:C122427	mondo.json	antenatal CMV infection|antenatal cytomegalovirus infection|congenital Cytomegaloviral infection|CMV antenatal infection|mother-to-child transmission of cytomegalovirus syndrome|congenital cytomegalovirus	http://purl.obolibrary.org/obo/MONDO_0017409	http://identifiers.org/snomedct/276701009|NCIT:C122427|Orphanet:294|UMLS:C0349499	gard_rare|ordo_disease
MONDO:0017402	biolink:Disease	familial isolated arrhythmogenic ventricular dysplasia, biventricular form		UMLS:CN203146|Orphanet:293899	mondo.json	familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form	http://purl.obolibrary.org/obo/MONDO_0017402	Orphanet:293899|UMLS:CN203146	ordo_clinical_subtype
MONDO:0017403	biolink:Disease	familial isolated arrhythmogenic ventricular dysplasia, right dominant form		UMLS:CN203147|Orphanet:293910	mondo.json	familial isolated arrhythmogenic ventricular dysplasia, classic form|familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form|familial isolated arrhythmogenic ventricular cardiomyopathy, classic form	http://purl.obolibrary.org/obo/MONDO_0017403	UMLS:CN203147|Orphanet:293910	ordo_clinical_subtype
GO:0140110	biolink:NamedThing	transcription regulator activity	A molecular function that controls the rate, timing and/or magnitude of gene transcription. The function of transcriptional regulators is to modulate gene expression at the transcription step so that they are expressed in the right cell at the right time and in the right amount throughout the life of the cell and the organism. Genes are transcriptional units, and include bacterial operons.		mondo.json		http://purl.obolibrary.org/obo/GO_0140110		
MONDO:0017404	biolink:Disease	distal Xq28 microduplication syndrome	Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.	DECIPHER:88|UMLS:CN203151|Orphanet:293939	mondo.json	distal trisomy Xq28|distal dup(X)q(28)|Xq28 Microduplication	http://purl.obolibrary.org/obo/MONDO_0017404	Orphanet:293939|UMLS:CN203151	ordo_malformation_syndrome
UBERON:0002050	biolink:AnatomicalEntity	embryonic structure			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002050		
GO:0140112	biolink:NamedThing	extracellular vesicle biogenesis	The assembly and secretion a set of components to form an extracellular vesicule, a membrane-bounded vesicle that is released into the extracellular region. Extracellular vesicles include exosomes, microvesicles and apoptotic bodies, based on the mechanism by which they are released from cells and differentiated based on their size and content.		mondo.json	extracellular vesicle assembly	http://purl.obolibrary.org/obo/GO_0140112		
MONDO:0017405	biolink:Disease	1p21.3 microdeletion syndrome	1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder.	UMLS:C4304578|Orphanet:293948|SCTID:719600006|UMLS:CN203152	mondo.json	monosomy 1p21.3|Del(1)p(21.3)	http://purl.obolibrary.org/obo/MONDO_0017405	Orphanet:293948|UMLS:CN203152|http://identifiers.org/snomedct/719600006|UMLS:C4304578	ordo_malformation_syndrome
UBERON:0002059	biolink:AnatomicalEntity	submandibular ganglion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002059		
HGNC:15597	biolink:NamedThing	HPS3			mondo.json		http://identifiers.org/hgnc/15597		
MONDO:0017400	biolink:Disease	hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.	Orphanet:293864|UMLS:C2748662|OMIM:615710	mondo.json	hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome|Mitchell-Riley syndrome|hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome|MTCHRS|diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia	http://purl.obolibrary.org/obo/MONDO_0017400	UMLS:C2748662|https://omim.org/entry/615710|Orphanet:293864	ordo_malformation_syndrome
HGNC:15598	biolink:NamedThing	HAMP			mondo.json		http://identifiers.org/hgnc/15598		
MONDO:0017401	biolink:Disease	familial isolated arrhythmogenic ventricular dysplasia, left dominant form		UMLS:CN203145|Orphanet:293888	mondo.json	familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form	http://purl.obolibrary.org/obo/MONDO_0017401	Orphanet:293888|UMLS:CN203145	ordo_clinical_subtype
UBERON:0002056	biolink:AnatomicalEntity	inferior suprarenal artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002056		
MONDO:0030440	biolink:Disease	cone-rod dystrophy 22		OMIM:619531	mondo.json	CORD22	http://purl.obolibrary.org/obo/MONDO_0030440	https://omim.org/entry/619531	
UBERON:0002057	biolink:AnatomicalEntity	phrenic artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002057		
MONDO:0017470	biolink:Disease	congenital knee dislocation		ICD9:754.41|MedDRA:10010520|Orphanet:295034|SCTID:59068006|HP:0005191	mondo.json	congenital knee dislocation|congenital knee dislocation (disease)	http://purl.obolibrary.org/obo/MONDO_0017470	http://identifiers.org/snomedct/59068006|Orphanet:295034	ordo_morphological_anomaly
MONDO:0005489	biolink:Disease	dyslexia	A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension.	DOID:4428|NCIT:C96410|MESH:D004410|EFO:0005424|HP:0010522	mondo.json	dyslexia|dyslexia (disease)	http://purl.obolibrary.org/obo/MONDO_0005489	http://identifiers.org/mesh/D004410|NCIT:C96410|DOID:4428	
MONDO:0005486	biolink:Disease	tooth agenesis	A rare developmental dental anomaly in humans characterized by the absence of six or more teeth.	EFO:0005410|Orphanet:99798|DOID:0050591|SCTID:64969001|ICD10CM:K00.0|SCTID:16958000|MESH:D000848|OMIMPS:106600|Orphanet:2227|UMLS:CN169366|ICD9:520.0	mondo.json	hypodontia|selective tooth agenesis|familial tooth agenesis|tooth agenesis, selective|oligodontia	http://purl.obolibrary.org/obo/MONDO_0005486	UMLS:CN169366|Orphanet:2227|Orphanet:99798|https://omim.org/phenotypicSeries/PS106600|DOID:0050591|http://identifiers.org/snomedct/64969001	ordo_morphological_anomaly
MONDO:0005485	biolink:Disease	psychotic disorder	An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities.	ICD9:298.8|HP:0000709|SCTID:69322001|EFO:0005407|ICD9:298.9|DOID:2468|NCIT:C78576	mondo.json	psychosis|mental or behavioural disorder	http://purl.obolibrary.org/obo/MONDO_0005485	DOID:2468|NCIT:C78576|http://identifiers.org/snomedct/69322001	
MONDO:0005488	biolink:Disease	adolescent idiopathic scoliosis	A scoliosis with no known cause arising in adolescent.	Orphanet:3153|SCTID:203646004|OMIM:608765|EFO:0005423	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005488	Orphanet:3153|http://identifiers.org/snomedct/203646004	
MONDO:0005487	biolink:Disease	schizoaffective disorder	A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms.	NCIT:C94378|DOID:5418|ICD9:295.7|EFO:0005411	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005487	NCIT:C94378|DOID:5418	
MONDO:0005482	biolink:Disease	obsolete molar-incisor hypomineralization	OBSOLETE. A hypomineralisation of systemic origin of one to four permanent first molars frequently associated with affected incisors	SCTID:698053001|ICD9:520.5|EFO:0005321	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005482	http://identifiers.org/snomedct/698053001	
MONDO:0005481	biolink:Disease	contact dermatitis due to nickel	A form of allergic contact dermatitis that results from exposure to nickel	SCTID:93419003|UMLS:C0684345|EFO:0005320	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005481	http://identifiers.org/snomedct/93419003|UMLS:C0684345	
MONDO:0005484	biolink:Disease	colorectal adenoma	An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.	NCIT:C5673|DOID:0050914|DOID:0050860|EFO:0005406|SCTID:399432003|UMLS:C1302401	mondo.json	adenoma of the large bowel|adenoma of large bowel|large intestine adenoma|colorectum adenoma|colorectal adenoma|adenoma of the large intestine|adenoma of large intestine|large bowel adenoma	http://purl.obolibrary.org/obo/MONDO_0005484	NCIT:C5673|http://identifiers.org/snomedct/399432003|UMLS:C1302401|DOID:0050914|DOID:0050860	
MONDO:0005483	biolink:Disease	chemotherapy-induced alopecia	Hair loss as a result of chemotherapy treatment.	EFO:0005400	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005483		
MONDO:0005480	biolink:Disease	contact dermatitis	An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen.	DOID:2773|UMLS:C0011616|ICD9:692.9|EFO:0005319|ICD9:692.89|SCTID:40275004|NCIT:C26743|MESH:D003877	mondo.json	contact dermatitis/eczema|dermatitis venenata|contact eczema|contact dermatitis|dermatitis, venenata	http://purl.obolibrary.org/obo/MONDO_0005480	NCIT:C26743|http://identifiers.org/mesh/D003877|UMLS:C0011616|DOID:2773|http://identifiers.org/snomedct/40275004	
MONDO:0017479	biolink:Disease	amelia of upper limb, bilateral		Orphanet:295055	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017479	Orphanet:295055	ordo_clinical_subtype
MONDO:0017475	biolink:Disease	macrodactyly of toes		GARD:0006951|MESH:C537719|Orphanet:295047|HP:0100747	mondo.json	Megalodactyly of the foot|megalodactylism of the foot|macrodactyly of the foot|macrodactyly of foot	http://purl.obolibrary.org/obo/MONDO_0017475	http://identifiers.org/mesh/C537719|Orphanet:295047	ordo_morphological_anomaly
HP:0006530	biolink:PhenotypicFeature	Abnormal pulmonary interstitial morphology	Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis.	UMLS:C0206062|SNOMEDCT_US:233703007|MSH:D017563	mondo.json	Interstitial lung disease|Interstitial pulmonary disease|Abnormal lung parenchyma morphology|Abnormality in area between air sacs in lung	http://purl.obolibrary.org/obo/HP_0006530		
SO:1000183	biolink:SequenceFeature	chromosome_structure_variation	An alteration of the genome that leads to a change in the structure or number of one or more chromosomes.		mondo.json	snpEff:CHROMOSOME_LARGE_DELETION|chromosome structure variation	http://purl.obolibrary.org/obo/SO_1000183		
MONDO:0017476	biolink:Disease	upper limb hypertrophy		Orphanet:295049	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017476	Orphanet:295049	ordo_morphological_anomaly
SO:1000182	biolink:SequenceFeature	chromosome_number_variation	A kind of chromosome variation where the chromosome complement is not an exact multiple of the haploid number.		mondo.json	Jannovar:chromosome_number_variation|chromosome number variation	http://purl.obolibrary.org/obo/SO_1000182		
MONDO:0017477	biolink:Disease	lower limb hypertrophy	Lower limb hypertrophy is a rare, genetic, non-syndromic developmental defect during embryogenesis characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia.	Orphanet:295051	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017477	Orphanet:295051	ordo_morphological_anomaly
MONDO:0017478	biolink:Disease	amelia of upper limb, unilateral		Orphanet:295053	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017478	Orphanet:295053	ordo_clinical_subtype
MONDO:0017471	biolink:Disease	congenital patella dislocation		SCTID:205067002|GARD:0009692|Orphanet:295036|MESH:C538081	mondo.json	congenital patellar dislocation|congenital dislocation of the patella	http://purl.obolibrary.org/obo/MONDO_0017471	http://identifiers.org/mesh/C538081|Orphanet:295036|http://identifiers.org/snomedct/205067002	gard_rare|ordo_morphological_anomaly
MONDO:0017472	biolink:Disease	patella aplasia/hypoplasia, unilateral		Orphanet:295038	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017472	Orphanet:295038	ordo_clinical_subtype
MONDO:0017473	biolink:Disease	patella aplasia/hypoplasia, bilateral		Orphanet:295041	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017473	Orphanet:295041	ordo_clinical_subtype
HGNC:15561	biolink:NamedThing	IL36RN			mondo.json		http://identifiers.org/hgnc/15561		
MONDO:0017474	biolink:Disease	macrodactyly of fingers		SCTID:297195000|HP:0100746|Orphanet:295044|MESH:C537720|GARD:0008529	mondo.json	macrodactyly of the hand|Megalodactyly of the hand|macrodactyly of hand|megalodactylism of the hand	http://purl.obolibrary.org/obo/MONDO_0017474	http://identifiers.org/mesh/C537720|Orphanet:295044|http://identifiers.org/snomedct/297195000	ordo_morphological_anomaly
MONDO:0005497	biolink:Disease	bone development disease	A disease involving the bone development.	DOID:0080006|SCTID:371521007|EFO:0005541	mondo.json	bone development disease or disorder|disorder of bone development|disease of bone development|disease or disorder of bone development|bone development disease	http://purl.obolibrary.org/obo/MONDO_0005497	http://identifiers.org/snomedct/371521007|DOID:0080006	
MONDO:0005496	biolink:Disease	bile duct carcinoma	A carcinoma that arises from epithelial cells of the bile duct	EFO:0005540|NCIT:C27814|UMLS:C0740277|DOID:4897	mondo.json	bile duct cancer|carcinoma of bile duct|bile duct carcinoma|bile duct cancer (including cholangiocarcinoma)	http://purl.obolibrary.org/obo/MONDO_0005496	NCIT:C27814|UMLS:C0740277|DOID:4897	
MONDO:0005499	biolink:Disease	brain glioma	A malignant glioma that involves the brain.	UMLS:C0349661|SCTID:254937005|DOID:0060108|OMIM:613029|OMIM:613028|EFO:0005543	mondo.json	brain malignant glioma|malignant glioma of brain	http://purl.obolibrary.org/obo/MONDO_0005499	UMLS:C0349661|http://identifiers.org/snomedct/254937005|DOID:0060108	
MONDO:0005498	biolink:Disease	botulism	A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure.	SCTID:398565003|MedDRA:10006041|GARD:0000943|DOID:11976|CSP:5000-0060|NCIT:C84599|Orphanet:1267|MESH:D001906|UMLS:C0006057|EFO:0005542	mondo.json	foodborne botulism|infant botulism (subtype)|food poisoning due to Clostridium botulinum|infection due to Clostridium botulinum|botulism|wound botulism (subtype)|foodborne botulism (subtype)|intoxication with Clostridium botulinum toxin|botulism poisoning	http://purl.obolibrary.org/obo/MONDO_0005498	NCIT:C84599|DOID:11976|http://identifiers.org/snomedct/398565003|Orphanet:1267|http://identifiers.org/mesh/D001906|UMLS:C0006057	ordo_disease|gard_rare
NBO:0002603	biolink:NamedThing	regulation of sexual activity	"Any process that modulates the frequency, rate or extent of sexual activity, the specific actions or reactions of an organism in response to external or internal stimuli." [NBOC:GVG]		mondo.json		http://purl.obolibrary.org/obo/NBO_0002603		
MONDO:0005493	biolink:Disease	carbon monoxide-induced delayed encephalopathy	Anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event	EFO:0005534	mondo.json	delayed encephalopathy after acute carbon monoxide poisoning	http://purl.obolibrary.org/obo/MONDO_0005493		
MONDO:0005492	biolink:Disease	urticaria	A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress.	SCTID:126485001|NCIT:C3432|UMLS:C0042109|ICD9:708|DOID:1555|ICD9:708.9|ICD9:708.8|MESH:D014581|EFO:0005531|ICD10CM:L50|HP:0001025	mondo.json	hives|Urticarias|urticaria|urticaria (disease)	http://purl.obolibrary.org/obo/MONDO_0005492	http://identifiers.org/snomedct/126485001|NCIT:C3432|http://identifiers.org/mesh/D014581|UMLS:C0042109|http://purl.bioontology.org/ontology/ICD10CM/L50|DOID:1555	
MONDO:0005495	biolink:Disease	adrenal gland disorder	A disease involving the adrenal gland.	MESH:D000307|NCIT:C26690|ICD9:255.8|EFO:0005539|SCTID:30171000|DOID:9553|ICD9:255.9|ICD9:255	mondo.json	adrenal gland diseases|disease or disorder of adrenal gland|disease of adrenal gland|adrenal gland disorder|adrenal gland disease or disorder|adrenal gland disorders|adrenal gland disease|disorder of adrenal gland	http://purl.obolibrary.org/obo/MONDO_0005495	DOID:9553|NCIT:C26690|http://identifiers.org/mesh/D000307|http://identifiers.org/snomedct/30171000	
MONDO:0005494	biolink:Disease	triple-negative breast carcinoma	An invasive breast carcinoma which is negative for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2).	DOID:0060081|SCTID:706970001|EFO:0005537|UMLS:C3539878|MESH:D064726|NCIT:C71732	mondo.json	triple-negative breast carcinoma|triple-negative breast cancer|triple-receptor negative breast cancer	http://purl.obolibrary.org/obo/MONDO_0005494	NCIT:C71732|http://identifiers.org/snomedct/706970001|UMLS:C3539878|DOID:0060081|http://identifiers.org/mesh/D064726	
MONDO:0005491	biolink:Disease	Chagas cardiomyopathy	A disease of the cardiac muscle developed subsequent to the initial protozoan infection by trypanosoma cruzi. After infection, less than 10% develop acute illness such as myocarditis (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced chagas disease include conduction defects (heart block) and cardiomegaly.	ICD9:086.0|EFO:0005529|SCTID:998008|MESH:D002598	mondo.json	Trypanosoma cruzi cardiomyopathy|Trypanosoma cruzi caused cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0005491	http://identifiers.org/mesh/D002598|http://identifiers.org/snomedct/998008	
MONDO:0005490	biolink:Disease	large artery stroke	Stroke caused by the blockage of blood flow in one of the large arteries feeding the brain.	EFO:0005524	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005490		
MONDO:0017468	biolink:Disease	congenital shoulder dislocation		Orphanet:295030|ICD9:755.59|SCTID:23876003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017468	http://identifiers.org/snomedct/23876003|Orphanet:295030	ordo_morphological_anomaly
MONDO:0017469	biolink:Disease	congenital elbow dislocation		Orphanet:295032	mondo.json	isolated congenital elbow dislocation|isolated congenital radial head dislocation|congenital radial head dislocation	http://purl.obolibrary.org/obo/MONDO_0017469	Orphanet:295032	ordo_morphological_anomaly
HGNC:15574	biolink:NamedThing	RB1CC1			mondo.json		http://identifiers.org/hgnc/15574		
MONDO:0017464	biolink:Disease	congenital pseudoarthrosis of the fibula		Orphanet:295022	mondo.json	congenital pseudarthrosis of the fibula	http://purl.obolibrary.org/obo/MONDO_0017464	Orphanet:295022	ordo_clinical_subtype
MONDO:0017465	biolink:Disease	congenital pseudoarthrosis of the radius		Orphanet:295024	mondo.json	congenital pseudarthrosis of the radius	http://purl.obolibrary.org/obo/MONDO_0017465	Orphanet:295024	ordo_clinical_subtype
OBO:ECTO_0000163	biolink:NamedThing	exposure to organic cyclic compound	An exposure to organic cyclic compound.		mondo.json	exposure to organic cyclic compound	http://purl.obolibrary.org/obo/ECTO_0000163		
MONDO:0017466	biolink:Disease	congenital pseudoarthrosis of the ulna		Orphanet:295026	mondo.json	congenital pseudarthrosis of the ulna	http://purl.obolibrary.org/obo/MONDO_0017466	Orphanet:295026	ordo_clinical_subtype
MONDO:0017467	biolink:Disease	tibio-fibular synostosis	Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.	SCTID:737581000|Orphanet:295028	mondo.json	Tibio-fibular fusion	http://purl.obolibrary.org/obo/MONDO_0017467	http://identifiers.org/snomedct/737581000|Orphanet:295028	ordo_morphological_anomaly
MONDO:0017460	biolink:Disease	syndactyly type 6	Syndactyly type 6 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers.	SCTID:763624007|UMLS:CN203203|Orphanet:295012	mondo.json	mitten hand|unilateral syndactyly of digits 2-5|syndactyly, mitten type	http://purl.obolibrary.org/obo/MONDO_0017460	UMLS:CN203203|Orphanet:295012|http://identifiers.org/snomedct/763624007	ordo_morphological_anomaly
MONDO:0017461	biolink:Disease	familial isolated clinodactyly of fingers	Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging.	Orphanet:295014|SCTID:763691008	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017461	http://identifiers.org/snomedct/763691008|Orphanet:295014	ordo_morphological_anomaly
MONDO:0017462	biolink:Disease	congenital pseudoarthrosis of the tibia	A condition characterized by non-union of the tibia, which is present at birth. It is usually associated with neurofibromatosis type 1.	NCIT:C132080|Orphanet:295018|SCTID:55379003|UMLS:C0265661	mondo.json	congenital pseudarthrosis of tibia|congenital pseudarthrosis of the tibia	http://purl.obolibrary.org/obo/MONDO_0017462	NCIT:C132080|http://identifiers.org/snomedct/55379003|Orphanet:295018|UMLS:C0265661	ordo_clinical_subtype
MONDO:0017463	biolink:Disease	congenital pseudoarthrosis of the femur		Orphanet:295020	mondo.json	congenital pseudarthrosis of the femur	http://purl.obolibrary.org/obo/MONDO_0017463	Orphanet:295020	ordo_clinical_subtype
HGNC:15573	biolink:NamedThing	SETBP1			mondo.json		http://identifiers.org/hgnc/15573		
OBA:1001084	biolink:NamedThing	feces osmolality	The osmolality of a feces.		mondo.json	osmolality of feces	http://purl.obolibrary.org/obo/OBA_1001084		
MONDO:0005468	biolink:Disease	hypotensive disorder	Blood pressure that is abnormally low.	HP:0002615|SCTID:45007003|ICD9:458.8|ICD9:458.9|EFO:0005251|MESH:D007022|ICD9:458	mondo.json	hypotension (disease)|hypotension	http://purl.obolibrary.org/obo/MONDO_0005468	http://identifiers.org/mesh/D007022|http://identifiers.org/snomedct/45007003	
MONDO:0005467	biolink:Disease	occupation-related stress disorder	The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope.	Wikipedia:Occupational_stress|EFO:0005250|SCTID:10586006	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005467	http://identifiers.org/snomedct/10586006	
MONDO:0005469	biolink:Disease	orthostatic hypotension	Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up.	SCTID:28651003|HP:0001278|ICD9:458.0|EFO:0005252	mondo.json	orthostatic hypotension|orthostatic hypotension (disease)	http://purl.obolibrary.org/obo/MONDO_0005469	http://identifiers.org/snomedct/28651003	
MONDO:0005464	biolink:Disease	rhegmatogenous retinal detachment	Retinal detachment secondary to retinal tear or break.	NCIT:C118755|UMLS:C0271055|EFO:0005240|SCTID:19620000	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005464	UMLS:C0271055|http://identifiers.org/snomedct/19620000|NCIT:C118755	
MONDO:0005463	biolink:Disease	aortic valve calcification	Calcification of the aortic valve	SCTID:250978003|UMLS:C0428791|EFO:0005239|HP:0004380	mondo.json	aortic valve calcification|aortic valve calcification (disease)	http://purl.obolibrary.org/obo/MONDO_0005463	UMLS:C0428791|http://identifiers.org/snomedct/250978003	
MONDO:0005466	biolink:Disease	hypersomnia	A sleep disorder characterized by excessive sleepiness.	UMLS:C0917799|SCTID:77692006|EFO:0005246|HP:0100786|ICD9:780.54|NCIT:C78346	mondo.json	hypersomnia|hypersomnia (disease)	http://purl.obolibrary.org/obo/MONDO_0005466	UMLS:C0917799|http://identifiers.org/snomedct/77692006|NCIT:C78346	
MONDO:0005465	biolink:Disease	methamphetamine-induced psychosis	Abnormal mental state resulting from an abuse of methamphetamine	EFO:0005242	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005465		
MONDO:0005460	biolink:Disease	swine influenza	An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness.	NCIT:C80444|SCTID:442696006|DOID:0050211|EFO:0005226	mondo.json	Swine influenza virus influenza|H1N1 Virus infection|H1N1 flu|swine flu|Influenza A (H1N1)|Influenza A (H1N1) Virus infection|H1N1 Influenza|Swine influenza virus caused influenza	http://purl.obolibrary.org/obo/MONDO_0005460	http://identifiers.org/snomedct/442696006|DOID:0050211|NCIT:C80444	
MONDO:0005462	biolink:Disease	primitive neuroectodermal tumor	A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors.	EFO:0005235|ICDO:9503/3|ONCOTREE:PNET|MESH:D017599|NCIT:C3716|DOID:171|ICDO:9473/3	mondo.json	neuroectodermal neoplasm|neuroectodermal tumor|PNET|primitive neuroectodermal neoplasm|neuroepithelioma|primitive neuroectodermal tumor (PNET)|primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/MONDO_0005462	http://identifiers.org/mesh/D017599|NCIT:C3716|DOID:171	
MONDO:0005461	biolink:Disease	endometrium adenocarcinoma	An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma.	DOID:2870|UMLS:C1153706|NCIT:C6287|EFO:0005232|UMLS:C1336905|NCIT:C7359|UMLS:C0279763	mondo.json	endometrial endometrioid adenocarcinoma with squamous differentiation|adenocarcinoma of endometrium|endometrial adenocarcinoma|endometrioid adenomas and carcinomas|adenocarcinoma, endometrial, malignant|endometrium adenocarcinoma|adenocarcinoma of the endometrium|endometrioid adenoma or carcinoma NOS (morphologic abnormality)|endometrial endometrioid adenocarcinoma|endometrioid carcinoma of endometrium|endometrial adenoacanthoma|endometrioid adenoma or carcinoma|endometrioid adenomas and carcinomas (morphologic abnormality)|adenocarcinoma of uterus	http://purl.obolibrary.org/obo/MONDO_0005461	DOID:2870|UMLS:C1153706|UMLS:C0279763|NCIT:C7359	
HP:0006517	biolink:PhenotypicFeature	Intraalveolar phospholipid accumulation	Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis.	MSH:D011649|SNOMEDCT_US:10501004|UMLS:C0034050	mondo.json	Alveolar proteinosis|Pulmonary alveolar proteinosis|Detection of PAS-positive extracellular material in broncho-alveolar lavage	http://purl.obolibrary.org/obo/HP_0006517		
MONDO:0017457	biolink:Disease	Preaxial polydactyly of toes		GARD:0012771|SCTID:205132000|Orphanet:295006	mondo.json	bifid great toes|bifid hallux|preaxial polydactyly of foot|bifid halluces	http://purl.obolibrary.org/obo/MONDO_0017457	Orphanet:295006|http://identifiers.org/snomedct/205132000	ordo_morphological_anomaly
MONDO:0017458	biolink:Disease	obsolete postaxial polydactyly of toes		GARD:0012770|SCTID:205133005|Orphanet:295008	mondo.json	postaxial polydactyly of foot	http://purl.obolibrary.org/obo/MONDO_0017458	Orphanet:295008|http://identifiers.org/snomedct/205133005	
MONDO:0017459	biolink:Disease	obsolete central polydactyly of toes		Orphanet:295010|SCTID:253967005	mondo.json	mirror foot|central polydactyly of foot|mesoaxial polydactyly of toes	http://purl.obolibrary.org/obo/MONDO_0017459	Orphanet:295010|http://identifiers.org/snomedct/253967005	
MONDO:0017453	biolink:Disease	fetal parvovirus syndrome	Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis.	GARD:0004236|GARD:0002310|MESH:C536301|Orphanet:295|SCTID:715197005	mondo.json	fifth disease|mother-to-child transmission of parvovirus syndrome|Maternofetal infection by parvovirus|Parvovirus antenatal infection|Human parvovirus B19 caused infectious embryofetopathy|Parvovirus B19 antenatal infection|Human parvovirus B19 infectious embryofetopathy	http://purl.obolibrary.org/obo/MONDO_0017453	http://identifiers.org/snomedct/715197005|Orphanet:295|http://identifiers.org/mesh/C536301	gard_rare|ordo_malformation_syndrome
MONDO:0017454	biolink:Disease	triphalangeal thumb-polysyndactyly syndrome	Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly.	UMLS:CN203197|OMIM:174500|Orphanet:2950	mondo.json	TPT-PS syndrome	http://purl.obolibrary.org/obo/MONDO_0017454	UMLS:CN203197|Orphanet:2950	ordo_malformation_syndrome
MONDO:0017455	biolink:Disease	hyperphalangy	Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.	Orphanet:295002|SCTID:763535005	mondo.json	supernumerary phalanx|supernumerary phalanges	http://purl.obolibrary.org/obo/MONDO_0017455	http://identifiers.org/snomedct/763535005|Orphanet:295002	ordo_morphological_anomaly
MONDO:0017456	biolink:Disease	central polydactyly of fingers		GARD:0012769|Orphanet:295004|SCTID:205130008	mondo.json	mesoaxial polydactyly|mirror hand|mesoaxial polydactyly of fingers|central polydactyly|central polydactyly of hand	http://purl.obolibrary.org/obo/MONDO_0017456	http://identifiers.org/snomedct/205130008|Orphanet:295004	ordo_morphological_anomaly
OBO:ECTO_0000135	biolink:NamedThing	exposure to organic compound	An exposure to organic molecular entity.		mondo.json	exposure to organic molecular entity	http://purl.obolibrary.org/obo/ECTO_0000135		
MONDO:0017450	biolink:Disease	split foot		SCTID:205358006|HP:0001839|Orphanet:294994	mondo.json	split foot (disease)|split foot	http://purl.obolibrary.org/obo/MONDO_0017450	Orphanet:294994|http://identifiers.org/snomedct/205358006	ordo_morphological_anomaly
MONDO:0017451	biolink:Disease	non-syndromic brachydactyly of fingers	A non-syndromic brachydactyly that involves the manus.	Orphanet:294996	mondo.json	non-syndromic brachydactyly of manus|short fingers|manus non-syndromic brachydactyly	http://purl.obolibrary.org/obo/MONDO_0017451	Orphanet:294996	ordo_morphological_anomaly
MONDO:0017452	biolink:Disease	non-syndromic brachydactyly of toes	A non-syndromic brachydactyly that involves the pes.	Orphanet:294998|ICD9:755.66|SCTID:205346006	mondo.json	non-syndromic brachydactyly of pes|short toes|pes non-syndromic brachydactyly	http://purl.obolibrary.org/obo/MONDO_0017452	Orphanet:294998|http://identifiers.org/snomedct/205346006	ordo_morphological_anomaly
MONDO:0005479	biolink:Disease	atrial tachycardia	A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)	SCTID:276796006|ICD9:427.89|NCIT:C35481|EFO:0005308	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005479	http://identifiers.org/snomedct/276796006|NCIT:C35481	
MONDO:0005478	biolink:Disease	torsades de pointes	A malignant form of polymorphic ventricular tachycardia that is characterized by heart rate between 200 and 250 beats per minute, and qrs complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long qt intervals exceeding 500 milliseconds or bradycardia. Torsades de pointes may be self-limited or may progress to ventricular fibrillation.	UMLS:C0040479|SCTID:31722008|EFO:0005307|HP:0001664|MESH:D016171	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005478	UMLS:C0040479|http://identifiers.org/mesh/D016171|http://identifiers.org/snomedct/31722008	
MONDO:0005475	biolink:Disease	migraine with aura	A migraine disorder characterized by episodes that are preceded by focal neurological symptoms.	SCTID:4473006|MESH:D020325|UMLS:C0154723|EFO:0005295|ICD9:346.00|DOID:10024|NCIT:C117005|HP:0002077|ICD9:346.0	mondo.json	classic migraine	http://purl.obolibrary.org/obo/MONDO_0005475	DOID:10024|UMLS:C0154723|http://identifiers.org/mesh/D020325|http://identifiers.org/snomedct/4473006|NCIT:C117005	
MONDO:0005474	biolink:Disease	obsolete non-small cell lung adenocarcinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005474		
MONDO:0005477	biolink:Disease	ventricular tachycardia	A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)	SCTID:25569003|NCIT:C50802|UMLS:C0042514|MESH:D017180|ICD10CM:I47.2|EFO:0005306	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005477	NCIT:C50802|http://identifiers.org/mesh/D017180|http://identifiers.org/snomedct/25569003|http://purl.bioontology.org/ontology/ICD10CM/I47.2|UMLS:C0042514	
UBERON:0002090	biolink:AnatomicalEntity	postcranial axial skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002090		
MONDO:0005476	biolink:Disease	atrioventricular node disorder	A disease involving the atrioventricular node.	EFO:0005305	mondo.json	disorder of atrioventricular node|atrioventricular node disease|disease or disorder of atrioventricular node|disease of atrioventricular node|atrioventricular node disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005476		
MONDO:0005471	biolink:Disease	neurally mediated hypotension	Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal	EFO:0005254	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005471		
MONDO:0005470	biolink:Disease	postprandial hypotension	Drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines.	EFO:0005253	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005470		
MONDO:0005473	biolink:Disease	temporomandibular joint disorder	Any condition affecting the anatomic and functional characteristics of the temporomandibular joint.	SCTID:41888000|MESH:D013705|ICD9:524.69|NCIT:C63709|ICD9:524.60|EFO:0005279	mondo.json	TMD	http://purl.obolibrary.org/obo/MONDO_0005473	http://identifiers.org/snomedct/41888000|http://identifiers.org/mesh/D013705|NCIT:C63709	
MONDO:0005472	biolink:Disease	obsolete congenital heart malformation			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005472		
UBERON:0002095	biolink:AnatomicalEntity	mesentery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002095		
UBERON:0002097	biolink:AnatomicalEntity	skin of body			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002097		
UBERON:0002092	biolink:AnatomicalEntity	brain dura mater			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002092		
MONDO:0017446	biolink:Disease	apodia		Orphanet:294986|SCTID:371197005	mondo.json	congenital absence of foot	http://purl.obolibrary.org/obo/MONDO_0017446	Orphanet:294986|http://identifiers.org/snomedct/371197005	ordo_morphological_anomaly
MONDO:0017447	biolink:Disease	congenital absence/hypoplasia of thumb	Congenital absence/hypoplasia of thumb is a rare developmental defect during embryogenesis characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome.	Orphanet:294988	mondo.json	thumb hypodactyly|thumb oligodactyly	http://purl.obolibrary.org/obo/MONDO_0017447	Orphanet:294988	ordo_morphological_anomaly
UBERON:0002091	biolink:AnatomicalEntity	appendicular skeleton			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002091		
UBERON:0002094	biolink:AnatomicalEntity	interventricular septum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002094		
MONDO:0017448	biolink:Disease	congenital absence/hypoplasia of fingers excluding thumb		Orphanet:294990	mondo.json	digits 2-5 oligodactyly|digits 2-5 hypodactyly	http://purl.obolibrary.org/obo/MONDO_0017448	Orphanet:294990	ordo_morphological_anomaly
MONDO:0017449	biolink:Disease	split hand	Split hand is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral or unilateral underdevelopment or absence of the central rays of the autopod, with absence of all or just some of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.	Orphanet:294992|HP:0001171	mondo.json	split hand|split hand (disease)|ectrodactyly of hand	http://purl.obolibrary.org/obo/MONDO_0017449	Orphanet:294992	ordo_morphological_anomaly
HGNC:15559	biolink:NamedThing	CHCHD10			mondo.json		http://identifiers.org/hgnc/15559		
UBERON:0002093	biolink:AnatomicalEntity	spinal dura mater			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002093		
MONDO:0017442	biolink:Disease	congenital absence of thigh and lower leg with foot present		Orphanet:294977|ICD10CM:Q72.1|ICD9:755.33|SCTID:55852007	mondo.json	Femorotibiofibular intercalary transverse meromelia	http://purl.obolibrary.org/obo/MONDO_0017442	http://identifiers.org/snomedct/55852007|Orphanet:294977|http://purl.bioontology.org/ontology/ICD10CM/Q72.1	ordo_morphological_anomaly
MONDO:0017443	biolink:Disease	congenital absence of both forearm and hand	Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end.	ICD10CM:Q71.2|Orphanet:294979	mondo.json	radio-ulnar terminal transverse meromelia	http://purl.obolibrary.org/obo/MONDO_0017443	Orphanet:294979|http://purl.bioontology.org/ontology/ICD10CM/Q71.2	ordo_morphological_anomaly
MONDO:0017444	biolink:Disease	congenital absence of both lower leg and foot		SCTID:278532000|ICD10CM:Q72.2|Orphanet:294981	mondo.json	tibiofibular terminal transverse meromelia	http://purl.obolibrary.org/obo/MONDO_0017444	Orphanet:294981|http://purl.bioontology.org/ontology/ICD10CM/Q72.2|http://identifiers.org/snomedct/278532000	ordo_morphological_anomaly
MONDO:0017445	biolink:Disease	acheiria		Orphanet:294983|SCTID:371199008	mondo.json	congenital absence of hand	http://purl.obolibrary.org/obo/MONDO_0017445	http://identifiers.org/snomedct/371199008|Orphanet:294983	ordo_morphological_anomaly
UBERON:0002099	biolink:AnatomicalEntity	cardiac septum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002099		
MONDO:0017440	biolink:Disease	humeral agenesis/hypoplasia	Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.	Orphanet:294973	mondo.json	humeral intercalary meromelia|congenital absence of humerus|congenital hypoplasia of humerus	http://purl.obolibrary.org/obo/MONDO_0017440	Orphanet:294973	ordo_morphological_anomaly
MONDO:0017441	biolink:Disease	congenital absence of upper arm and forearm with hand present	A congenital malformation in which the upper portion of a limb is either shortened or absent.	NCIT:C34928|GARD:0012123|SCTID:22841008|ICD10CM:Q71.1|Orphanet:294975	mondo.json	phocomelia|humero-radio-ulnar intercalary transverse meromelia	http://purl.obolibrary.org/obo/MONDO_0017441	NCIT:C34928|Orphanet:294975|http://purl.bioontology.org/ontology/ICD10CM/Q71.1|http://identifiers.org/snomedct/22841008	ordo_morphological_anomaly
GO:0044149	biolink:NamedThing	positive regulation of formation of structure involved in a symbiotic process	Any process that activates or increases the frequency, rate or extent of the progression of an organism from an initial condition to a later condition, occurring in, on or near the exterior of its host organism.		mondo.json	positive regulation of development of symbiont during interaction with host|positive regulation of development of symbiont involved in interaction with host	http://purl.obolibrary.org/obo/GO_0044149		
GO:0044147	biolink:NamedThing	negative regulation of formation of structure involved in a symbiotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the progression of an organism from an initial condition to a later condition, occurring in, on or near the exterior of its host organism.		mondo.json	negative regulation of development of symbiont during interaction with host|negative regulation of development of symbiont involved in interaction with host	http://purl.obolibrary.org/obo/GO_0044147		
GO:0044145	biolink:NamedThing	modulation of formation of structure involved in a symbiotic process	Any process that modulates the frequency, rate or extent of the progression of an organism from an initial condition to a later condition, occurring in, on or near the exterior of its host organism.		mondo.json	modulation of development of symbiont involved in interaction with host|modulation of development of symbiont during interaction with host	http://purl.obolibrary.org/obo/GO_0044145		
UBERON:0004668	biolink:AnatomicalEntity	fourth ventricle aperture			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004668		
HGNC:15520	biolink:NamedThing	LPAR6			mondo.json		http://identifiers.org/hgnc/15520		
UBERON:0002007	biolink:AnatomicalEntity	medulla of lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002007		
UBERON:0004666	biolink:AnatomicalEntity	interventricular septum membranous part			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004666		
UBERON:0002006	biolink:AnatomicalEntity	cortex of lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002006		
UBERON:0004667	biolink:AnatomicalEntity	interventricular septum muscular part			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004667		
UBERON:0002001	biolink:AnatomicalEntity	joint of rib			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002001		
UBERON:0004664	biolink:AnatomicalEntity	aorta tunica adventitia			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004664		
UBERON:0004665	biolink:AnatomicalEntity	muscular coat of seminal vesicle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004665		
UBERON:0004663	biolink:AnatomicalEntity	aorta wall			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004663		
HGNC:801	biolink:NamedThing	ATP1A3			mondo.json		http://identifiers.org/hgnc/801		
HGNC:800	biolink:NamedThing	ATP1A2			mondo.json		http://identifiers.org/hgnc/800		
GO:0010817	biolink:NamedThing	regulation of hormone levels	Any process that modulates the levels of hormone within an organism or a tissue. A hormone is any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action.		mondo.json		http://purl.obolibrary.org/obo/GO_0010817		
UBERON:0016632	biolink:AnatomicalEntity	isthmus of fallopian tube			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016632		
UBERON:0004650	biolink:AnatomicalEntity	tongue keratinized epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004650		
HGNC:15532	biolink:NamedThing	JAM3			mondo.json		http://identifiers.org/hgnc/15532		
GO:0071753	biolink:NamedThing	IgM immunoglobulin complex	A protein complex composed of two identical immunoglobulin heavy chains of the IgM isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and in its circulating form complexed with J chain in polymeric forms. An IgM immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph.		mondo.json		http://purl.obolibrary.org/obo/GO_0071753		
HGNC:15533	biolink:NamedThing	SPRY4			mondo.json		http://identifiers.org/hgnc/15533		
UBERON:0004652	biolink:AnatomicalEntity	humerus diaphysis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004652		
CHEBI:47622	biolink:ChemicalSubstance	acetate ester	Any carboxylic ester where the carboxylic acid component is acetic acid.		mondo.json	Acetyl ester|acetates|acetate|acetate esters|Acetic ester|acetyl esters|an acetyl ester	http://purl.obolibrary.org/obo/CHEBI_47622		
UBERON:0004637	biolink:AnatomicalEntity	otic capsule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004637		
UBERON:0004638	biolink:AnatomicalEntity	blood vessel endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004638		
HGNC:15505	biolink:NamedThing	MBOAT7			mondo.json		http://identifiers.org/hgnc/15505		
HGNC:15506	biolink:NamedThing	TSEN34			mondo.json		http://identifiers.org/hgnc/15506		
HGNC:15508	biolink:NamedThing	PUS1			mondo.json		http://identifiers.org/hgnc/15508		
UBERON:0004647	biolink:AnatomicalEntity	liver lobule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004647		
UBERON:0004644	biolink:AnatomicalEntity	fourth ventricle ependyma			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004644		
UBERON:0004645	biolink:AnatomicalEntity	urinary bladder urothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004645		
UBERON:0004642	biolink:AnatomicalEntity	third ventricle ependyma			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004642		
UBERON:0004643	biolink:AnatomicalEntity	lateral ventricle ependyma			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004643		
UBERON:0004641	biolink:AnatomicalEntity	spleen capsule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004641		
UBERON:0016612	biolink:AnatomicalEntity	auditory hillocks, pharyngeal arch 2 derived			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016612		
UBERON:0016611	biolink:AnatomicalEntity	auditory hillocks, pharyngeal arch 1 derived			mondo.json		http://purl.obolibrary.org/obo/UBERON_0016611		
HGNC:15516	biolink:NamedThing	XYLT1			mondo.json		http://identifiers.org/hgnc/15516		
CHEBI:35640	biolink:ChemicalSubstance	adrenergic uptake inhibitor	Adrenergic uptake inhibitors are drugs that block the transport of adrenergic transmitters into axon terminals or into storage vesicles within terminals. The tricyclic antidepressants and amphetamines are among the therapeutically important drugs that may act via inhibition of adrenergic transport. Many of these drugs also block transport of serotonin.		mondo.json	norepinephrine reuptake inhibitor|NRI|adrenergic reuptake inhibitor|adrenergic uptake inhibitors|adrenergic reuptake inhibitors|NERI|norepinephrine reuptake inhibitors|ARI	http://purl.obolibrary.org/obo/CHEBI_35640		
HGNC:15517	biolink:NamedThing	XYLT2			mondo.json		http://identifiers.org/hgnc/15517		
HGNC:15512	biolink:NamedThing	VANGL1			mondo.json		http://identifiers.org/hgnc/15512		
HGNC:15511	biolink:NamedThing	VANGL2			mondo.json		http://identifiers.org/hgnc/15511		
MONDO:0005406	biolink:Disease	gestational diabetes	Carbohydrate intolerance first diagnosed during pregnancy.	NCIT:C34942|MESH:D016640|UMLS:C0085207|SCTID:11687002|EFO:0004593|DOID:11714	mondo.json	gestational diabetes mellitus|maternal gestational diabetes mellitus|diabetes in pregnancy|GDM	http://purl.obolibrary.org/obo/MONDO_0005406	DOID:11714|http://identifiers.org/mesh/D016640|UMLS:C0085207|NCIT:C34942|http://identifiers.org/snomedct/11687002	
MONDO:0005405	biolink:Disease	childhood onset asthma	Asthma that starts in childhood.	EFO:0004591|SCTID:233678006|UMLS:C0264408	mondo.json	pediatric asthma|asthma of childhood|childhood asthma	http://purl.obolibrary.org/obo/MONDO_0005405	UMLS:C0264408|http://identifiers.org/snomedct/233678006	
MONDO:0005408	biolink:Disease	diabetes mellitus type 2 associated cataract	Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism	EFO:0004596	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005408		
MONDO:0005407	biolink:Disease	childhood eosinophilic esophagitis	An eosinophilic esophagitis that starts in childhood.	EFO:0004594	mondo.json	pediatric eosinophilic esophagitis|eosinophilic esophagitis of childhood	http://purl.obolibrary.org/obo/MONDO_0005407		
MONDO:0005402	biolink:Disease	lymphoid leukemia	A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias.	NCIT:C7539|ICDO:981-983|ICD9:204.20|MESH:D007945|UMLS:C0152271|DOID:10747|SCTID:188726003|EFO:0004289|UMLS:C0023448|HP:0005526|ICDO:9820/3|ICD9:204|ICD9:204.2	mondo.json	lymphoid leukemia (disease)|lymphoid leukemia|lymphocytic leukemia|leukemia, LYMPHOCYTIC, malignant|lymphogenous leukemia|subacute lymphoid leukemia	http://purl.obolibrary.org/obo/MONDO_0005402	http://identifiers.org/snomedct/188726003|UMLS:C0152271|NCIT:C7539|UMLS:C0023448|http://identifiers.org/mesh/D007945	
MONDO:0005401	biolink:Disease	colonic neoplasm	A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.	MESH:D003110|EFO:0004288|UMLS:C0009375|NCIT:C2953	mondo.json	tumor of colon|neoplasm of the colon|colonic neoplasm|colon neoplasm (disease)|colonic tumor|tumor of the colon|neoplasm of colon|colon neoplasm|colon tumor	http://purl.obolibrary.org/obo/MONDO_0005401	http://identifiers.org/mesh/D003110|NCIT:C2953|UMLS:C0009375	
MONDO:0005404	biolink:Disease	myalgic encephalomeyelitis/chronic fatigue syndrome	A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities.	NCIT:C3037|SCTID:51771007|ICD9:780.71|ICD9:780.79|MESH:D015673|Orphanet:1983|DOID:8544|UMLS:C0015674|EFO:0004540	mondo.json	chronic fatigue syndrome|Postviral fatigue syndrome|chronic fatigue immune dysfunction syndrome|CFS|myalgic encephalitis|systemic exertion intolerance disease|myalgic encephalomyelitis	http://purl.obolibrary.org/obo/MONDO_0005404	DOID:8544|NCIT:C3037|UMLS:C0015674|http://identifiers.org/mesh/D015673|Orphanet:1983|http://identifiers.org/snomedct/51771007	
MONDO:0005403	biolink:Disease	obsolete neonatal systemic lupus erthematosus			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005403		
MONDO:0005400	biolink:Disease	obsolete ventricular fibrillation			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005400		
CHEBI:35618	biolink:ChemicalSubstance	aromatic ether	Any ether in which the oxygen is attached to at least one aryl substituent.		mondo.json		http://purl.obolibrary.org/obo/CHEBI_35618		
UBERON:0002040	biolink:AnatomicalEntity	bronchial artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002040		
CHEBI:35610	biolink:ChemicalSubstance	antineoplastic agent	A substance that inhibits or prevents the proliferation of neoplasms.		mondo.json	antineoplastic|anticancer agent|antineoplastic agents|cytostatic|anticancer agents	http://purl.obolibrary.org/obo/CHEBI_35610		
UBERON:0002042	biolink:AnatomicalEntity	lymphatic vessel endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002042		
UBERON:0002049	biolink:AnatomicalEntity	vasculature			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002049		
UBERON:0002048	biolink:AnatomicalEntity	lung			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002048		
OBO:ECTO_9000364	biolink:NamedThing	exposure to tetracycline	An exposure to tetracycline.		mondo.json	exposure to tetracycline	http://purl.obolibrary.org/obo/ECTO_9000364		
UBERON:0002047	biolink:AnatomicalEntity	pontine raphe nucleus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002047		
UBERON:0002046	biolink:AnatomicalEntity	thyroid gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002046		
MONDO:0005417	biolink:Disease	wet macular degeneration	A form of RETINAL degeneration in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision.	MESH:D057135|UMLS:C0271084|ICD9:362.52|UMLS:C2237660|SCTID:414173003|DOID:10873|EFO:0004683	mondo.json	Kuhnt-Junius degeneration|Senile macular degeneration, wet|wet AMD|exudative senile macular degeneration of retina|wet senile macular retinal degeneration|wet ARMD|wet age related macular degeneration|neovascular age-related macular degeneration	http://purl.obolibrary.org/obo/MONDO_0005417	http://identifiers.org/snomedct/414173003|http://identifiers.org/mesh/D057135|UMLS:C0271084|DOID:10873|UMLS:C2237660	
MONDO:0005416	biolink:Disease	osteoarthritis, knee	Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)	EFO:0004616|MESH:D020370	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005416	http://identifiers.org/mesh/D020370	
MONDO:0005419	biolink:Disease	metamphetamine dependence	A drug dependence that is a psychological dependency on the regular use of metamphetamine.	EFO:0004701	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005419		
MONDO:0005418	biolink:Disease	non-compaction cardiomyopathy	Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.	EFO:0004686	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005418		
MONDO:0005413	biolink:Disease	cystic fibrosis associated meconium ileus	Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis. In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis. The presence of meconium ileus is not related to the severity of the cystic fibrosis.	EFO:0004608	mondo.json	cystic fibrosis associated meconium ileum	http://purl.obolibrary.org/obo/MONDO_0005413		
MONDO:0005412	biolink:Disease	duodenal ulcer	An ulcer in the duodenal wall.	EFO:0004607|DOID:1724|MESH:D004381|SCTID:39755000|ICD10CM:K26|NCIT:C26755|HP:0002588|ICD9:532	mondo.json	curling Ulcer|stress Ulcer|curling's ulcers|duodenal ulcer|duodenal ulcer (disease)	http://purl.obolibrary.org/obo/MONDO_0005412	http://identifiers.org/snomedct/39755000|http://purl.bioontology.org/ontology/ICD10CM/K26|DOID:1724|NCIT:C26755|http://identifiers.org/mesh/D004381	
MONDO:0005415	biolink:Disease	obsolete acute lung injury			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005415		
MONDO:0005414	biolink:Disease	treatment-refractory schizophrenia	Schizophrenia which does not respond to commonly used treatments.	EFO:0004609	mondo.json	refractory schizophrenia|TRS|treatment-refractory schizophrenia	http://purl.obolibrary.org/obo/MONDO_0005414		
CHEBI:35627	biolink:ChemicalSubstance	beta-lactam	A lactam in which the amide bond is contained within a four-membered ring, which includes the amide nitrogen and the carbonyl carbon.		mondo.json	beta-lactams|beta-Lactam|a beta-lactam	http://purl.obolibrary.org/obo/CHEBI_35627		
MONDO:0005411	biolink:Disease	gallbladder cancer	A malignant neoplasm involving the gall bladder	DOID:3121|ICD9:156.8|EFO:0004606|ICD9:156.0|ONCOTREE:GBC|GARD:0009328|UMLS:C0153452|NCIT:C7481|SCTID:363353009	mondo.json	gallbladder neoplasm|malignant neoplasm of gallbladder|malignant tumor of gallbladder|gall bladder cancer|localized malignant gallbladder neoplasm|gallbladder Ca|malignant gallbladder neoplasm|malignant tumour of gallbladder|malignant tumor of the gallbladder|malignant gall bladder neoplasm|cancer of gall bladder|malignant neoplasm of the gallbladder|malignant gallbladder tumor|tumor of the gallbladder|malignant neoplasm of gall bladder	http://purl.obolibrary.org/obo/MONDO_0005411	DOID:3121|NCIT:C7481|UMLS:C0153452|http://identifiers.org/snomedct/363353009	
MONDO:0005410	biolink:Disease	obsolete acute graft vs. host disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005410		
UBERON:0002030	biolink:AnatomicalEntity	nipple			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002030		
UBERON:0004691	biolink:AnatomicalEntity	bulbourethral gland secretion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004691		
CHEBI:35620	biolink:ChemicalSubstance	vasodilator agent	A drug used to cause dilation of the blood vessels.		mondo.json	vasodilator agents|vasodilator	http://purl.obolibrary.org/obo/CHEBI_35620		
UBERON:0004692	biolink:AnatomicalEntity	external naris epithelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004692		
UBERON:0002031	biolink:AnatomicalEntity	epithelium of bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002031		
CHEBI:35623	biolink:ChemicalSubstance	anticonvulsant	A drug used to prevent seizures or reduce their severity.		mondo.json	anti-convulsant|anti-convulsants|anticonvulsive agent|Antikonvulsiva|Antiepileptika|Antiepileptikum|anti-convulsive agents|Antikonvulsivum|antiepileptic|antiepileptiques|anticonvulsants|antiepileptique|anti-convulsive agent|antiepileptics|anticonvulsive agents	http://purl.obolibrary.org/obo/CHEBI_35623		
UBERON:0002037	biolink:AnatomicalEntity	cerebellum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002037		
UBERON:0004699	biolink:AnatomicalEntity	outflow tract endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004699		
OBO:ECTO_9000376	biolink:NamedThing	exposure to formic acid	An exposure to formic acid.		mondo.json	exposure to formic acid	http://purl.obolibrary.org/obo/ECTO_9000376		
MONDO:0005409	biolink:Disease	obsolete variant Creutzfeld Jacob disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005409		
UBERON:0002033	biolink:AnatomicalEntity	arrector muscle of hair			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002033		
UBERON:0004698	biolink:AnatomicalEntity	vena cava endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004698		
UBERON:0004695	biolink:AnatomicalEntity	arterial system smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004695		
UBERON:0002036	biolink:AnatomicalEntity	striated muscle tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002036		
UBERON:0004696	biolink:AnatomicalEntity	venous system smooth muscle			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004696		
UBERON:0002019	biolink:AnatomicalEntity	accessory XI nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002019		
NCBITaxon:68459	biolink:OrganismalEntity	Giardiinae		GC_ID:6	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_68459		
UBERON:0002021	biolink:AnatomicalEntity	occipital lobe			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002021		
UBERON:0004681	biolink:AnatomicalEntity	vestibular system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004681		
UBERON:0002020	biolink:AnatomicalEntity	gray matter			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002020		
UBERON:0002027	biolink:AnatomicalEntity	stratum corneum of epidermis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002027		
UBERON:0002026	biolink:AnatomicalEntity	stratum spinosum of epidermis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002026		
UBERON:0002029	biolink:AnatomicalEntity	epithelium of gall bladder			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002029		
UBERON:0004688	biolink:AnatomicalEntity	costo-cervical trunk			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004688		
UBERON:0002028	biolink:AnatomicalEntity	hindbrain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002028		
UBERON:0004684	biolink:AnatomicalEntity	raphe nuclei			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004684		
UBERON:0002025	biolink:AnatomicalEntity	stratum basale of epidermis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002025		
UBERON:0002008	biolink:AnatomicalEntity	cardiac nerve plexus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002008		
CHEBI:35605	biolink:ChemicalSubstance	carbon oxoacid			mondo.json	oxoacids of carbon|carbon oxoacids	http://purl.obolibrary.org/obo/CHEBI_35605		
CHEBI:35604	biolink:ChemicalSubstance	carbon oxoanion	A negative ion consisting solely of carbon and oxygen  atoms, and therefore having the general formula CxOy(n-) for some integers x, y and n.		mondo.json	oxocarbon anion|carbon oxoanion|carbon oxoanions|oxocarbon anions	http://purl.obolibrary.org/obo/CHEBI_35604		
UBERON:0004670	biolink:AnatomicalEntity	ependyma			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004670		
UBERON:0004679	biolink:AnatomicalEntity	dentate gyrus molecular layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004679		
UBERON:0002016	biolink:AnatomicalEntity	pulmonary vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002016		
SO:0001217	biolink:SequenceFeature	protein_coding_gene	A gene that codes for an RNA that can be translated into a protein.		mondo.json	protein coding gene	http://purl.obolibrary.org/obo/SO_0001217		
UBERON:0002015	biolink:AnatomicalEntity	kidney capsule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002015		
UBERON:0002018	biolink:AnatomicalEntity	synovial membrane of synovial joint			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002018		
UBERON:0002017	biolink:AnatomicalEntity	portal vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002017		
UBERON:0002012	biolink:AnatomicalEntity	pulmonary artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002012		
UBERON:0004675	biolink:AnatomicalEntity	hypoglossal nerve root			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004675		
UBERON:0002011	biolink:AnatomicalEntity	thoracodorsal artery			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002011		
UBERON:0004673	biolink:AnatomicalEntity	trigeminal nerve root			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004673		
UBERON:0004674	biolink:AnatomicalEntity	facial nerve root			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004674		
HGNC:634	biolink:NamedThing	AQP2			mondo.json		http://identifiers.org/hgnc/634		
UBERON:0004701	biolink:AnatomicalEntity	venous system endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004701		
UBERON:0004702	biolink:AnatomicalEntity	respiratory system blood vessel endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004702		
UBERON:0004700	biolink:AnatomicalEntity	arterial system endothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004700		
HGNC:626	biolink:NamedThing	APRT			mondo.json		http://identifiers.org/hgnc/626		
HGNC:644	biolink:NamedThing	AR			mondo.json		http://identifiers.org/hgnc/644		
GO:0007369	biolink:NamedThing	gastrulation	A complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm.		mondo.json		http://purl.obolibrary.org/obo/GO_0007369		
ENVO:02500031	biolink:NamedThing	hydrological process	An environmental process which has water - in any of its states - as a participant.		mondo.json		http://purl.obolibrary.org/obo/ENVO_02500031		
HGNC:638	biolink:NamedThing	AQP5			mondo.json		http://identifiers.org/hgnc/638		
HGNC:613	biolink:NamedThing	APOE			mondo.json		http://identifiers.org/hgnc/613		
HGNC:610	biolink:NamedThing	APOC3			mondo.json		http://identifiers.org/hgnc/610		
GO:0044325	biolink:NamedThing	transmembrane transporter binding	Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other.		mondo.json	ion channel binding	http://purl.obolibrary.org/obo/GO_0044325		
GO:0010985	biolink:NamedThing	negative regulation of lipoprotein particle clearance	Any process that decreases the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded.		mondo.json		http://purl.obolibrary.org/obo/GO_0010985		
GO:0010986	biolink:NamedThing	positive regulation of lipoprotein particle clearance	Any process that increases the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded.		mondo.json		http://purl.obolibrary.org/obo/GO_0010986		
GO:0009991	biolink:NamedThing	response to extracellular stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an extracellular stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0009991		
ENVO:00010483	biolink:NamedThing	environmental material	A portion of environmental material is a fiat object part which forms the medium or part of the medium of an environmental system.		mondo.json	portion of environmental material|environmental	http://purl.obolibrary.org/obo/ENVO_00010483		
GO:0019319	biolink:NamedThing	hexose biosynthetic process	The chemical reactions and pathways resulting in the formation of hexose, any monosaccharide with a chain of six carbon atoms in the molecule.		mondo.json	hexose anabolism|hexose synthesis|hexose formation|hexose biosynthesis	http://purl.obolibrary.org/obo/GO_0019319		
CHEBI:59560	biolink:ChemicalSubstance	sapropterin	A tetrahydropterin that is 2-amino-5,6,7,8-tetrahydropteridin-4(3H)-one in which a hydrogen at position 6 is substituted by a 1,2-dihydroxypropyl group (6R,1'R,2'S-enantiomer).		mondo.json	6R-5,6,7,8-tetrahydrobiopterin|(6R)-L-erythro-tetrahydrobiopterin|6R-L-5,6,7,8-tetrahydrobiopterin|sapropterin|2-Amino-6-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydoro-4(1H)-pteridinone|(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin|tetrahydrobiopterin|(-)-(6R)-2-amino-6-((1R,2S)-1,2-dihydroxypropyl)-5,6,7,8-tetrahydro-4(3H)-pteridinone|R-THBP|6R-BH4|sapropterinum|sapropterina|(6R)-2-amino-6-[(1R,2S)-1,2-dihydroxypropyl]-5,6,7,8-tetrahydropteridin-4(3H)-one|5,6,7,8-Tetrahydrobiopterin	http://purl.obolibrary.org/obo/CHEBI_59560		
GO:0010984	biolink:NamedThing	regulation of lipoprotein particle clearance	Any process that modulates the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded.		mondo.json		http://purl.obolibrary.org/obo/GO_0010984		
GO:0019318	biolink:NamedThing	hexose metabolic process	The chemical reactions and pathways involving a hexose, any monosaccharide with a chain of six carbon atoms in the molecule.		mondo.json	hexose metabolism	http://purl.obolibrary.org/obo/GO_0019318		
GO:0071944	biolink:NamedThing	cell periphery	The part of a cell encompassing the cell cortex, the plasma membrane, and any external encapsulating structures.		mondo.json		http://purl.obolibrary.org/obo/GO_0071944		
NCBITaxon:8049	biolink:OrganismalEntity	Gadus morhua		GC_ID:1	mondo.json	Atlantic cod	http://purl.obolibrary.org/obo/NCBITaxon_8049		
NCBITaxon:8048	biolink:OrganismalEntity	Gadus		GC_ID:1	mondo.json	Theragra	http://purl.obolibrary.org/obo/NCBITaxon_8048		
GO:0071941	biolink:NamedThing	nitrogen cycle metabolic process	A nitrogen compound metabolic process that contributes to the nitrogen cycle. The nitrogen cycle is a series of metabolic pathways by which nitrogen is converted between various forms and redox states; it encompasses pathways in which nitrogen is acted upon directly, such as nitrification, denitrification, nitrogen fixation, and mineralization.		mondo.json		http://purl.obolibrary.org/obo/GO_0071941		
HGNC:609	biolink:NamedThing	APOC2			mondo.json		http://identifiers.org/hgnc/609		
NCBITaxon:8045	biolink:OrganismalEntity	Gadidae		GC_ID:1	mondo.json	tadpole cod|Ranicipitidae|cods	http://purl.obolibrary.org/obo/NCBITaxon_8045		
NCBITaxon:8043	biolink:OrganismalEntity	Gadiformes		GC_ID:1	mondo.json	cods and others	http://purl.obolibrary.org/obo/NCBITaxon_8043		
HGNC:620	biolink:NamedThing	APP			mondo.json		http://identifiers.org/hgnc/620		
GO:0007346	biolink:NamedThing	regulation of mitotic cell cycle	Any process that modulates the rate or extent of progress through the mitotic cell cycle.		mondo.json	mitotic cell cycle modulation|mitotic cell cycle regulation|regulation of progression through mitotic cell cycle|modulation of mitotic cell cycle progression|regulation of mitotic cell cycle progression|mitotic cell cycle regulator	http://purl.obolibrary.org/obo/GO_0007346		
GO:0046997	biolink:NamedThing	oxidoreductase activity, acting on the CH-NH group of donors, flavin as acceptor	Catalysis of an oxidation-reduction (redox) reaction in which a CH-NH group acts as a hydrogen or electron donor and reduces a flavin.		mondo.json		http://purl.obolibrary.org/obo/GO_0046997		
HGNC:619	biolink:NamedThing	APOL2			mondo.json		http://identifiers.org/hgnc/619		
HGNC:618	biolink:NamedThing	APOL1			mondo.json		http://identifiers.org/hgnc/618		
UBERON:0004739	biolink:AnatomicalEntity	pronephric glomerulus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004739		
UBERON:0004736	biolink:AnatomicalEntity	metanephric glomerulus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004736		
UBERON:0004737	biolink:AnatomicalEntity	metanephric collecting duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004737		
MONDO:0030293	biolink:Disease	angioedema, hereditary, 5		OMIM:619361	mondo.json	HAE5|angioedema, hereditary, 5	http://purl.obolibrary.org/obo/MONDO_0030293	https://omim.org/entry/619361	
GO:0010962	biolink:NamedThing	regulation of glucan biosynthetic process	Any process that modulates the rate, frequency, or extent of glucan biosynthesis. Glucan biosynthetic processes are the chemical reactions and pathways resulting in the formation of glucans, polysaccharides consisting only of glucose residues.		mondo.json		http://purl.obolibrary.org/obo/GO_0010962		
MONDO:0030298	biolink:Disease	angioedema, hereditary, 8		OMIM:619367	mondo.json	angioedema, hereditary, 8|HAE8	http://purl.obolibrary.org/obo/MONDO_0030298	https://omim.org/entry/619367	
CHEBI:35571	biolink:ChemicalSubstance	mancude organic heterocyclic parent			mondo.json	mancude organic heterocyclic parents|mancude-ring organic heterocyclic parents	http://purl.obolibrary.org/obo/CHEBI_35571		
MONDO:0030294	biolink:Disease	megacystis-microcolon-intestinal hypoperistalsis syndrome 3		OMIM:619362	mondo.json	MMIHS3|megacystis-microcolon-intestinal hypoperistalsis syndrome 3	http://purl.obolibrary.org/obo/MONDO_0030294	https://omim.org/entry/619362	
UBERON:0004742	biolink:AnatomicalEntity	dentary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004742		
CHEBI:35573	biolink:ChemicalSubstance	organic mancude parent			mondo.json	organic mancude parents|organic mancude-ring parents	http://purl.obolibrary.org/obo/CHEBI_35573		
MONDO:0030296	biolink:Disease	megacystis-microcolon-intestinal hypoperistalsis syndrome 4		OMIM:619365	mondo.json	megacystis-microcolon-intestinal hypoperistalsis syndrome 4|MMIHS4	http://purl.obolibrary.org/obo/MONDO_0030296	https://omim.org/entry/619365	
HGNC:603	biolink:NamedThing	APOB			mondo.json		http://identifiers.org/hgnc/603		
HGNC:601	biolink:NamedThing	APOA2			mondo.json		http://identifiers.org/hgnc/601		
HGNC:600	biolink:NamedThing	APOA1			mondo.json		http://identifiers.org/hgnc/600		
UBERON:0004727	biolink:AnatomicalEntity	cochlear nerve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004727		
GO:0010976	biolink:NamedThing	positive regulation of neuron projection development	Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).		mondo.json	positive regulation of neurite biosynthesis|positive regulation of neurite formation|positive regulation of neurite growth|positive regulation of neurite development	http://purl.obolibrary.org/obo/GO_0010976		
GO:0010977	biolink:NamedThing	negative regulation of neuron projection development	Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).		mondo.json	negative regulation of neurite development|negative regulation of neurite growth|negative regulation of neurite formation|growth cone collapse|negative regulation of neurite biosynthesis	http://purl.obolibrary.org/obo/GO_0010977		
GO:0010975	biolink:NamedThing	regulation of neuron projection development	Any process that modulates the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).		mondo.json	regulation of neurite development|regulation of neurite biosynthesis|regulation of neurite formation|regulation of neurite growth	http://purl.obolibrary.org/obo/GO_0010975		
GO:0007320	biolink:NamedThing	insemination	The introduction of semen or sperm into the genital tract of a female.		mondo.json		http://purl.obolibrary.org/obo/GO_0007320		
GO:0010970	biolink:NamedThing	transport along microtubule	The movement of organelles or other particles from one location in the cell to another along microtubules, driven by motor activity.		mondo.json	microtubule-based transport|establishment of localization by movement along microtubule|movement along microtubule	http://purl.obolibrary.org/obo/GO_0010970		
GO:0009987	biolink:NamedThing	cellular process	Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level.		mondo.json	single-organism cellular process|cell physiology|cellular physiological process|cell growth and/or maintenance	http://purl.obolibrary.org/obo/GO_0009987		
UBERON:0004734	biolink:AnatomicalEntity	gastrula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004734		
GO:0071953	biolink:NamedThing	elastic fiber	An supramolecular fiber that consists of an insoluble core of polymerized tropoelastin monomers and a surrounding mantle of microfibrils. Elastic fibers provide elasticity and recoiling to tissues and organs, and maintain structural integrity against mechanical strain.		mondo.json	elastic fibre|elastin fiber	http://purl.obolibrary.org/obo/GO_0071953		
UBERON:0004732	biolink:AnatomicalEntity	segmental subdivision of nervous system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004732		
UBERON:0004733	biolink:AnatomicalEntity	segmental subdivision of hindbrain			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004733		
UBERON:0004731	biolink:AnatomicalEntity	neuromere			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004731		
UBERON:0004716	biolink:AnatomicalEntity	conceptus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004716		
UBERON:0004715	biolink:AnatomicalEntity	annulus fibrosus disci intervertebralis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004715		
GO:0010941	biolink:NamedThing	regulation of cell death	Any process that modulates the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death.		mondo.json		http://purl.obolibrary.org/obo/GO_0010941		
GO:0010942	biolink:NamedThing	positive regulation of cell death	Any process that increases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death.		mondo.json		http://purl.obolibrary.org/obo/GO_0010942		
GO:0010948	biolink:NamedThing	negative regulation of cell cycle process	Any process that decreases the rate, frequency or extent of a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events.		mondo.json		http://purl.obolibrary.org/obo/GO_0010948		
CHEBI:35552	biolink:ChemicalSubstance	heterocyclic organic fundamental parent			mondo.json	heterocyclic organic fundamental parents|organic heterocyclic fundamental parents|heterocyclic parent hydrides|heterocyclic fundamental parent	http://purl.obolibrary.org/obo/CHEBI_35552		
CHEBI:35555	biolink:ChemicalSubstance	mancude organic heteromonocyclic parent			mondo.json	mancude organic heteromonocyclic parents|mancude-ring organic heteromonocyclic parents	http://purl.obolibrary.org/obo/CHEBI_35555		
CHEBI:35554	biolink:ChemicalSubstance	cardiovascular drug	A drug that affects the rate or intensity of cardiac contraction, blood vessel diameter or blood volume.		mondo.json	cardiovascular agent|cardiovascular drugs	http://purl.obolibrary.org/obo/CHEBI_35554		
UBERON:0004720	biolink:AnatomicalEntity	cerebellar vermis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004720		
UBERON:0004709	biolink:AnatomicalEntity	pelvic appendage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004709		
UBERON:0004707	biolink:AnatomicalEntity	pharyngula stage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004707		
UBERON:0004708	biolink:AnatomicalEntity	paired limb/fin			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004708		
UBERON:0004706	biolink:AnatomicalEntity	bulbus cordis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004706		
UBERON:0004704	biolink:AnatomicalEntity	bone fossa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004704		
GO:0010954	biolink:NamedThing	positive regulation of protein processing	Any process that increases the rate, frequency or extent of protein maturation by peptide bond cleavage.		mondo.json	positive regulation of protein maturation by peptide bond cleavage	http://purl.obolibrary.org/obo/GO_0010954		
GO:0010955	biolink:NamedThing	negative regulation of protein processing	Any process that decreases the rate, frequency or extent of protein maturation by peptide bond cleavage.		mondo.json	negative regulation of protein maturation by peptide bond cleavage	http://purl.obolibrary.org/obo/GO_0010955		
GO:0010952	biolink:NamedThing	positive regulation of peptidase activity	Any process that increases the frequency, rate or extent of peptidase activity, the hydrolysis of peptide bonds within proteins.		mondo.json		http://purl.obolibrary.org/obo/GO_0010952		
GO:0010959	biolink:NamedThing	regulation of metal ion transport	Any process that modulates the frequency, rate, or extent of metal ion transport. Metal ion transport is the directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0010959		
GO:0010957	biolink:NamedThing	negative regulation of vitamin D biosynthetic process	Any process that decreases the rate, frequency or extent of a vitamin D biosynthetic process. Vitamin D biosynthesis is the chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3).		mondo.json		http://purl.obolibrary.org/obo/GO_0010957		
CHEBI:35568	biolink:ChemicalSubstance	mancude ring	Any molecular entity that consists of a ring having (formally) the maximum number of noncumulative double bonds.		mondo.json	mancude rings|mancude-ring systems|mancunide-ring systems	http://purl.obolibrary.org/obo/CHEBI_35568		
GO:0010950	biolink:NamedThing	positive regulation of endopeptidase activity	Any process that increases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins.		mondo.json		http://purl.obolibrary.org/obo/GO_0010950		
GO:0010951	biolink:NamedThing	negative regulation of endopeptidase activity	Any process that decreases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins.		mondo.json		http://purl.obolibrary.org/obo/GO_0010951		
CHEBI:59517	biolink:ChemicalSubstance	DNA synthesis inhibitor	Any substance that inhibits the synthesis of DNA.		mondo.json	DNA synthesis inhibitors	http://purl.obolibrary.org/obo/CHEBI_59517		
GO:0009966	biolink:NamedThing	regulation of signal transduction	Any process that modulates the frequency, rate or extent of signal transduction.		mondo.json	regulation of signaling pathway|regulation of signalling pathway	http://purl.obolibrary.org/obo/GO_0009966		
GO:0009967	biolink:NamedThing	positive regulation of signal transduction	Any process that activates or increases the frequency, rate or extent of signal transduction.		mondo.json	up-regulation of signal transduction|up regulation of signal transduction|positive regulation of signalling pathway|activation of signal transduction|stimulation of signal transduction|upregulation of signal transduction|positive regulation of signaling pathway	http://purl.obolibrary.org/obo/GO_0009967		
HP:0041051	biolink:PhenotypicFeature	Ageusia	A rare condition that is characterized by a complete loss of taste function of the tongue.		mondo.json	Absent sense of taste|Impaired taste sensation|Lost taste	http://purl.obolibrary.org/obo/HP_0041051		
UBERON:0004710	biolink:AnatomicalEntity	pectoral appendage			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004710		
GO:0009968	biolink:NamedThing	negative regulation of signal transduction	Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction.		mondo.json	inhibition of signal transduction|negative regulation of signaling pathway|negative regulation of signalling pathway|downregulation of signal transduction|down-regulation of signal transduction|down regulation of signal transduction	http://purl.obolibrary.org/obo/GO_0009968		
UBERON:0004711	biolink:AnatomicalEntity	jugular vein			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004711		
GO:0071971	biolink:NamedThing	extracellular exosome assembly	The aggregation, arrangement and bonding together of a set of components to form an extracellular vesicular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Exosomes are defined by their size, which generally ranges from 30 nm to 100 nm.		mondo.json	extracellular vesicular exosome assembly	http://purl.obolibrary.org/obo/GO_0071971		
MONDO:0017270	biolink:Disease	autosomal ichthyosis syndrome		UMLS:CN202791|Orphanet:281217	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017270	Orphanet:281217|UMLS:CN202791	ordo_group_of_disorders|disease_grouping
MONDO:0017271	biolink:Disease	obsolete autosomal ichthyosis syndrome with prominent hair abnormalities		UMLS:CN202792|Orphanet:281222	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017271	Orphanet:281222|UMLS:CN202792	ordo_group_of_disorders
MONDO:0017272	biolink:Disease	obsolete autosomal ichthyosis syndrome with prominent neurologics signs		UMLS:CN202793|Orphanet:281238	mondo.json	autosomal ichthyosis syndrome with prominent neurologic signs	http://purl.obolibrary.org/obo/MONDO_0017272	Orphanet:281238|UMLS:CN202793	ordo_group_of_disorders
MONDO:0005288	biolink:Disease	intestinal polyp	Discrete abnormal tissue masses that protrude into the lumen of the intestine. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base.	EFO:0003855|MESH:D007417|SCTID:254588001|ICD9:569.89|HP:0005266	mondo.json	intestinal polyp (disease)|intestinal polyp	http://purl.obolibrary.org/obo/MONDO_0005288	http://identifiers.org/snomedct/254588001|http://identifiers.org/mesh/D007417	
MONDO:0042233	biolink:Disease	disseminated candidiasis	Systemic candidiasis occurs when Candida yeast enters the bloodstream and may spread (becoming disseminated candidiasis) to other organs, including the central nervous system, kidneys, liver, bones, muscles, joints, spleen, or eyes.	GARD:0001076|NCIT:C116812|SCTID:70572005	mondo.json	systemic candidiasis|disseminated candidiasis|invasive candidiasis|disseminated candidosis|systemic candida infections|disseminated candida	http://purl.obolibrary.org/obo/MONDO_0042233	http://identifiers.org/snomedct/70572005|NCIT:C116812	gard_rare
MONDO:0005287	biolink:Disease	developmental disability	Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)	EFO:0003852|MESH:D002658	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005287	http://identifiers.org/mesh/D002658	
MONDO:0005289	biolink:Disease	paranasal sinus neoplasm	A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	DOID:1350|EFO:0003866|UMLS:C0030470|SCTID:126675008|HP:0030072|NCIT:C7488	mondo.json	accessory sinus tumor|neoplasm of the paranasal sinus|neoplasm of accessory sinus|tumor of paranasal sinus|tumor of the accessory sinus|accessory sinus neoplasm|paranasal sinus neoplasms|tumor of accessory sinus|neoplasm of paranasal sinus|tumor of the paranasal sinus|paranasal sinus tumor|neoplasm of the accessory sinus|paranasal sinus neoplasm (disease)|paranasal sinus neoplasm	http://purl.obolibrary.org/obo/MONDO_0005289	UMLS:C0030470|http://identifiers.org/snomedct/126675008|NCIT:C7488|DOID:1350	
MONDO:0005284	biolink:Disease	chronic progressive multiple sclerosis	A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)	EFO:0003840|SCTID:230373008|UMLS:C0393665|MESH:D020528	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005284	http://identifiers.org/snomedct/230373008|UMLS:C0393665|http://identifiers.org/mesh/D020528	
MONDO:0005283	biolink:Disease	retinal disorder	Any disease or disorder of the retina.	ICD9:362.89|DOID:5679|NCIT:C62601|EFO:0003839|SCTID:29555009|MESH:D012164|UMLS:C0035309|HGNC:8002|ICD9:362.9	mondo.json	eye disease of retina|retinopathy|retina eye disease	http://purl.obolibrary.org/obo/MONDO_0005283	DOID:5679|http://identifiers.org/mesh/D012164|http://identifiers.org/snomedct/29555009|NCIT:C62601|UMLS:C0035309	
MONDO:0005286	biolink:Disease	palatal neoplasm	A benign or malignant neoplasm that affects the hard palate, soft palate, or uvula.	SCTID:126805009|UMLS:C0030215|EFO:0003849|NCIT:C4402|MESH:D010157	mondo.json	neoplasm of palate|neoplasm of the palate|secondary palate neoplasm (disease)|tumor of secondary palate|palate tumor|palate neoplasm|tumor of palate|neoplasm of secondary palate|tumor of the palate|secondary palate neoplasm|secondary palate tumor	http://purl.obolibrary.org/obo/MONDO_0005286	http://identifiers.org/mesh/D010157|NCIT:C4402|http://identifiers.org/snomedct/126805009|UMLS:C0030215	
MONDO:0005285	biolink:Disease	obsolete kidney stone			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005285		
MONDO:0005280	biolink:Disease	prostatitis	An infectious or non-infectious inflammatory process affecting the prostate gland.	SCTID:9713002|MESH:D011472|UMLS:C0033581|DOID:14654|ICD9:601.8|HP:0000024|ICD9:601.4|NCIT:C26866|ICD9:601.9|EFO:0003830|ICD9:601	mondo.json	prostatitis|inflammation of prostate gland|prostatitis (disease)|prostate gland inflammation	http://purl.obolibrary.org/obo/MONDO_0005280	DOID:14654|http://identifiers.org/mesh/D011472|http://identifiers.org/snomedct/9713002|NCIT:C26866|UMLS:C0033581	
MONDO:0005282	biolink:Disease	cutaneous lupus erythematosus	An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease.	GARD:0006225|DOID:0050169|SCTID:7119001|UMLS:C0024137|NCIT:C26819|MESH:D008178|EFO:0003834	mondo.json	lupus erythematosus, cutaneous	http://purl.obolibrary.org/obo/MONDO_0005282	UMLS:C0024137|http://identifiers.org/snomedct/7119001|NCIT:C26819|DOID:0050169|http://identifiers.org/mesh/D008178	gard_rare
MONDO:0005281	biolink:Disease	gallbladder disorder	A disease involving the gall bladder.	ICD9:575.9|SCTID:39621005|ICD10CM:K82|ICD9:575.8|MESH:D005705|OMIMPS:600803|NCIT:C34631|UMLS:C0016977|EFO:0003832|DOID:0060262	mondo.json	disease or disorder of gall bladder|gallbladder disorder|gall bladder disease|gall bladder disease or disorder|Gall bladder disorder|disorder of gall bladder|disease of gall bladder	http://purl.obolibrary.org/obo/MONDO_0005281	NCIT:C34631|http://purl.bioontology.org/ontology/ICD10CM/K82|DOID:0060262|http://identifiers.org/snomedct/39621005|http://identifiers.org/mesh/D005705|https://omim.org/phenotypicSeries/PS600803|UMLS:C0016977	
MONDO:0044889	biolink:Disease	high grade B-cell lymphoma	A term that refers to high grade B-cell lymphoma, not otherwise specified or high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements.	NCIT:C138211|SCTID:277617004|UMLS:C0456863	mondo.json	HGBL|high-grade B-cell lymphoma|high grade B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0044889	NCIT:C138211|UMLS:C0456863|http://identifiers.org/snomedct/277617004	
MONDO:0017277	biolink:Disease	partial deletion of chromosome 12		Orphanet:282124	mondo.json	partial deletion of chromosome type 12|partial monosomy of chromosome 12	http://purl.obolibrary.org/obo/MONDO_0017277	Orphanet:282124	disease_grouping|ordo_group_of_disorders
MONDO:0017278	biolink:Disease	autoimmune polyendocrinopathy	A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues.	SCTID:41864002|UMLS:C0085409|DOID:14040|Orphanet:282196|NCIT:C84576|UMLS:C4316913|ICD9:258.8|NCIT:C129726|ICD10CM:E31.0	mondo.json	autoimmune polyglandular syndrome(s)|APS|autoimmune polyendocrine syndrome; polyglandular autoimmune syndrome|autoimmune polyglandular syndrome|autoimmune polyendocrine syndrome|autoimmune polyendocrinopathy syndrome|autoimmune polyendocrinopathy|Lloyd's syndrome|autoimmune polyglandular failure	http://purl.obolibrary.org/obo/MONDO_0017278	DOID:14040|NCIT:C129726|Orphanet:282196|UMLS:C4316913|http://purl.bioontology.org/ontology/ICD10CM/E31.0|NCIT:C84576|http://identifiers.org/snomedct/41864002|UMLS:C0085409	disease_grouping|ordo_group_of_disorders
MONDO:0017279	biolink:Disease	young-onset Parkinson disease	A form of Parkinson disease (PD) characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms.	DOID:0060894|SCTID:715345007|OMIM:615528|Orphanet:2828|Orphanet:391411	mondo.json	YOPD|early-onset Parkinson's disease|early-onset Parkinson disease	http://purl.obolibrary.org/obo/MONDO_0017279	Orphanet:2828|http://identifiers.org/snomedct/715345007|DOID:0060894	ordo_disease
MONDO:0017273	biolink:Disease	obsolete autosomal ichthyosis syndrome with fatal disease course		UMLS:CN202794|Orphanet:281241	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017273	Orphanet:281241|UMLS:CN202794	ordo_group_of_disorders
MONDO:0017274	biolink:Disease	obsolete autosomal ichthyosis syndrome with other associated signs			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017274		obsoletion_candidate
MONDO:0017275	biolink:Disease	spastic paraplegia-facial-cutaneous lesions syndrome	Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.	MESH:C537797|Orphanet:2819|GARD:0000806|UMLS:C2931617|SCTID:763403007	mondo.json	Bahemuka-Brown syndrome|spastic paraplegia facial cutaneous lesions|Bahemuka Brown syndrome	http://purl.obolibrary.org/obo/MONDO_0017275	Orphanet:2819|http://identifiers.org/mesh/C537797|UMLS:C2931617|http://identifiers.org/snomedct/763403007	ordo_malformation_syndrome
MONDO:0017276	biolink:Disease	frontotemporal dementia	Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy.	Orphanet:282|UMLS:C0338451|GARD:0008436|MESH:D057180|UMLS:C0520716|DOID:9255|MedDRA:10068968|NCIT:C84719	mondo.json	frontotemporal lobe dementia (FLDEM)|Wilhemsen-Lynch disease|MSTD|multiple system tauopathy with presenile dementia|FTD|frontotemporal lobar degeneration|pallidopontonigral degeneration	http://purl.obolibrary.org/obo/MONDO_0017276	Orphanet:282|UMLS:C0338451|DOID:9255|NCIT:C84719|http://identifiers.org/mesh/D057180|UMLS:C0520716	disease_grouping|ordo_group_of_disorders
MONDO:0017260	biolink:Disease	obsolete systemic diseases with posterior uveitis		Orphanet:280930|UMLS:CN202778	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017260	Orphanet:280930|UMLS:CN202778	ordo_group_of_disorders|disease_grouping
MONDO:0017261	biolink:Disease	obsolete systemic diseases with panuveitis		Orphanet:280933|UMLS:CN202779	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017261	Orphanet:280933|UMLS:CN202779	ordo_group_of_disorders|disease_grouping
MONDO:0030259	biolink:Disease	pontocerebellar hypoplasia, type 15		OMIM:619302	mondo.json	pontocerebellar hypoplasia, type 15|PCH15	http://purl.obolibrary.org/obo/MONDO_0030259	https://omim.org/entry/619302	
MONDO:0030258	biolink:Disease	pontocerebellar hypoplasia, type 14		OMIM:619301|Orphanet:613274	mondo.json	PCH14|pontocerebellar hypoplasia, type 14	http://purl.obolibrary.org/obo/MONDO_0030258	Orphanet:613274|https://omim.org/entry/619301	ordo_disorder
MONDO:0005299	biolink:Disease	brain ischemia	Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage.	NCIT:C78394|EFO:0003883|SCTID:389100007|UMLS:C0007786|ICD9:348.89|DOID:2316|MESH:D002545	mondo.json	ischemic disease of brain|cerebrovascular ischemia|brain ischemia|brain ischemic disease|ischemia cerebrovascular|ischemic encephalopathy|ischaemic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0005299	DOID:2316|UMLS:C0007786|http://identifiers.org/snomedct/389100007|NCIT:C78394|http://identifiers.org/mesh/D002545	
MONDO:0005298	biolink:Disease	osteoporosis	A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss).	OMIM:166710|ICD9:733.09|MESH:D010024|ICD9:733.0|ICD9:733.00|EFO:0003882|DOID:11476|ICD10CM:M81|SCTID:64859006|NCIT:C3298|GARD:0011932	mondo.json	osteoporosis, involutional|osteoporosis, susceptibility to|osteoporosis, postmenopausal|fracture, hip, susceptibility to|bone mineral density variation QTL, osteoporosis|osteoporosis, postmenopausal, susceptibility	http://purl.obolibrary.org/obo/MONDO_0005298	http://identifiers.org/mesh/D010024|http://purl.bioontology.org/ontology/ICD10CM/M81|DOID:11476|http://identifiers.org/snomedct/64859006|NCIT:C3298|https://omim.org/entry/166710	
MONDO:0005295	biolink:Disease	intermittent vascular claudication	A symptom complex characterized by pain and weakness in skeletal muscle group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial stenosis; muscle ischemia; and accumulation of lactate.	ICD9:440.21|MESH:D007383|DOID:3669|UMLS:C0021775|EFO:0003876|SCTID:63491006	mondo.json	Charcot's syndrome|intermittent claudication	http://purl.obolibrary.org/obo/MONDO_0005295	http://identifiers.org/snomedct/63491006|http://identifiers.org/mesh/D007383|DOID:3669|UMLS:C0021775	
MONDO:0005294	biolink:Disease	peripheral vascular disease	Any disorder affecting blood flow through the veins or arteries outside of the heart.	MESH:D016491|DOID:341|MESH:D016481|ICD9:443.81|NCIT:C35136|EFO:0003875	mondo.json	vascular disease, peripheral|arterial occlusive disease|peripheral vascular disorder|disease, peripheral vascular	http://purl.obolibrary.org/obo/MONDO_0005294	http://identifiers.org/mesh/D016491|NCIT:C35136|DOID:341	
MONDO:0005297	biolink:Disease	urethritis	Inflammation of the urethra.	ICD9:099.40|ICD9:597.80|HP:0500006|DOID:1343|NCIT:C26904|EFO:0003878|SCTID:84619001|MESH:D014526	mondo.json	urethritis|Nongonococcal urethritis|non-gonococcal urethritis|inflammation of urethra|urethritis (disease)|urethra inflammation	http://purl.obolibrary.org/obo/MONDO_0005297	http://identifiers.org/snomedct/84619001|DOID:1343|NCIT:C26904|http://identifiers.org/mesh/D014526	
MONDO:0005296	biolink:Disease	sleep apnea syndrome	A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep.	HP:0010535|NCIT:C148023|SCTID:73430006|ICD9:780.57|DOID:0050847|MESH:D012891|EFO:0003877|SCTID:111489007|ICD10CM:G47.3	mondo.json	mixed central and obstructive sleep apnea|hypopnea, sleep|SDB|apnea, sleep|breathing-related sleep disorder|sleep apneas|mixed sleep Apneas|apnea syndromes, sleep|sleep apneas, mixed|sleep apnea, mixed|sleep apnea syndrome|sleep hypopnea|sleep apnea|hypersomnia with periodic respiration|sleep apnea, mixed central and obstructive|sleep hypopneas|sleep disordered breathing|mixed sleep apnea|apnea syndrome, sleep|sleep-disordered breathing|apneas, sleep|breathing, sleep-disordered|hypopneas, sleep	http://purl.obolibrary.org/obo/MONDO_0005296	http://purl.bioontology.org/ontology/ICD10CM/G47.3|DOID:0050847|http://identifiers.org/mesh/D012891|http://identifiers.org/snomedct/111489007|NCIT:C148023|http://identifiers.org/snomedct/73430006	
MONDO:0005291	biolink:Disease	brain aneurysm	A congenital or acquired aneurysm within the cranium.	MESH:D002532|UMLS:C0007766|DOID:10941|EFO:0003870	mondo.json	intracranial aneurysm|brain aneurysm	http://purl.obolibrary.org/obo/MONDO_0005291	UMLS:C0007766|DOID:10941|http://identifiers.org/mesh/D002532	
UBERON:5006052	biolink:AnatomicalEntity	digit 5 plus metapodial segment			mondo.json		http://purl.obolibrary.org/obo/UBERON_5006052		
MONDO:0005290	biolink:Disease	rhabdomyolysis	A clinical syndrome resulting from direct or indirect muscle injury and subsequent release of myoglobin into the plasma.	SCTID:240131006|ICD9:728.88|HP:0003201|EFO:0003867|MESH:D012206|NCIT:C118318	mondo.json	rhabdomyolysis|rhabdomyolysis (disease)	http://purl.obolibrary.org/obo/MONDO_0005290	NCIT:C118318|http://identifiers.org/snomedct/240131006|http://identifiers.org/mesh/D012206	
MONDO:0005293	biolink:Disease	flatfoot	An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground.	SCTID:53226007|ICD9:734|MESH:D005413|NCIT:C34616|EFO:0003874	mondo.json	flat Foot|fallen Arch	http://purl.obolibrary.org/obo/MONDO_0005293	http://identifiers.org/snomedct/53226007|http://identifiers.org/mesh/D005413|NCIT:C34616	
MONDO:0030260	biolink:Disease	pontocerebellar hypoplasia, type 1E		OMIM:619303	mondo.json	pontocerebellar hypoplasia, type 1E|PCH1E	http://purl.obolibrary.org/obo/MONDO_0030260	https://omim.org/entry/619303	
MONDO:0005292	biolink:Disease	colitis	Inflammation of the colon.	ICD9:558.9|OMIM:191390|DOID:0060180|EFO:0003872|MESH:D003092|HP:0002583|UMLS:C0009319|NCIT:C26723|SCTID:64226004	mondo.json	colitis|colitis (disease)|inflammation of colon|colon inflammation	http://purl.obolibrary.org/obo/MONDO_0005292	DOID:0060180|http://identifiers.org/mesh/D003092|NCIT:C26723|http://identifiers.org/snomedct/64226004|UMLS:C0009319	
MONDO:0030266	biolink:Disease	immunodeficiency 80 with or without congenital cardiomyopathy	An autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported.	OMIM:619313	mondo.json	immunodeficiency 80 with or without cardiomyopathy|MCM10 deficiency|immunodeficiency with or without congenital cardiomyopathy|IMD80|immunodeficiency 80 with or without congenital cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0030266	https://omim.org/entry/619313	
MONDO:0017266	biolink:Disease	keratinopathic ichthyosis		SCTID:724837004|UMLS:C4511307|Orphanet:281103	mondo.json	KPI	http://purl.obolibrary.org/obo/MONDO_0017266	Orphanet:281103|UMLS:C4511307|http://identifiers.org/snomedct/724837004	disease_grouping|ordo_group_of_disorders
MONDO:0017267	biolink:Disease	self-healing collodion baby	Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.	Orphanet:281122|OMIM:242300|MESH:C565473|SCTID:718632004|UMLS:C1855789	mondo.json	SICI|self-improving collodion baby|self-improving congenital ichthyosis|SHCB	http://purl.obolibrary.org/obo/MONDO_0017267	http://identifiers.org/mesh/C565473|UMLS:C1855789|Orphanet:281122|http://identifiers.org/snomedct/718632004	ordo_disease
GO:0032388	biolink:NamedThing	positive regulation of intracellular transport	Any process that activates or increases the frequency, rate or extent of the directed movement of substances within cells.		mondo.json	up regulation of intracellular transport|activation of intracellular transport|stimulation of intracellular transport|upregulation of intracellular transport|up-regulation of intracellular transport	http://purl.obolibrary.org/obo/GO_0032388		
MONDO:0030268	biolink:Disease	developmental and epileptic encephalopathy 6B		OMIM:619317	mondo.json	developmental and epileptic encephalopathy 6B|DEE6B|developmental and epileptic encephalopathy 6B, non-Dravet	http://purl.obolibrary.org/obo/MONDO_0030268	https://omim.org/entry/619317	
MONDO:0017268	biolink:Disease	acral self-healing collodion baby	Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities.	SCTID:718633009|Orphanet:281127	mondo.json	acral SHCB	http://purl.obolibrary.org/obo/MONDO_0017268	Orphanet:281127|http://identifiers.org/snomedct/718633009	ordo_disease
OBO:ECTO_0000001	biolink:NamedThing	exposure to radiation	A exposure event involving the interaction of an exposure receptor to radiation.		mondo.json	radiation exposure	http://purl.obolibrary.org/obo/ECTO_0000001		
MONDO:0017269	biolink:Disease	X-linked ichthyosis syndrome	X-linked form of inherited ichthyosis syndromic form.	Orphanet:281210|UMLS:C0079588|MedDRA:10048063	mondo.json	X-linked inherited ichthyosis syndromic form|inherited ichthyosis syndromic form, X-linked	http://purl.obolibrary.org/obo/MONDO_0017269	Orphanet:281210	disease_grouping|ordo_group_of_disorders
GO:0032387	biolink:NamedThing	negative regulation of intracellular transport	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of substances within cells.		mondo.json	down-regulation of intracellular transport|down regulation of intracellular transport|downregulation of intracellular transport|inhibition of intracellular transport	http://purl.obolibrary.org/obo/GO_0032387		
MONDO:0017262	biolink:Disease	inherited non-syndromic ichthyosis	A inherited ichthyosis that is not part of a larger syndrome.	Orphanet:281082	mondo.json	isolated inherited ichthyosis|nonsyndromic inherited ichthyosis	http://purl.obolibrary.org/obo/MONDO_0017262	Orphanet:281082	disease_grouping|ordo_group_of_disorders
GO:0032386	biolink:NamedThing	regulation of intracellular transport	Any process that modulates the frequency, rate or extent of the directed movement of substances within cells.		mondo.json		http://purl.obolibrary.org/obo/GO_0032386		
MONDO:0017263	biolink:Disease	inherited ichthyosis syndromic form	A inherited ichthyosis that is part of a larger syndrome.	Orphanet:281085	mondo.json	syndromic inherited ichthyosis|syndrome associated with inherited ichthyosis	http://purl.obolibrary.org/obo/MONDO_0017263	Orphanet:281085	disease_grouping|ordo_group_of_disorders
MONDO:0030261	biolink:Disease	pontocerebellar hypoplasia, type 1F		OMIM:619304	mondo.json	pontocerebellar hypoplasia, type 1F|PCH1F	http://purl.obolibrary.org/obo/MONDO_0030261	https://omim.org/entry/619304	
OBO:ECTO_0000002	biolink:NamedThing	exposure to electromagnetic radiation	A exposure event involving the interaction of an exposure receptor to electromagnetic radiation.		mondo.json	electromagnetic radiation exposure	http://purl.obolibrary.org/obo/ECTO_0000002		
MONDO:0017264	biolink:Disease	syndromic recessive X-linked ichthyosis	Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome.	UMLS:CN202782|OMIM:308100|Orphanet:281090|SCTID:717041008|UMLS:C4274085	mondo.json	syndromic X-linked ichthyosis|syndromic RXLI|syndrome associated with recessive X-linked ichthyosis|syndromic recessive X-linked ichthyosis|recessive X-linked ichthyosis with extracutaneous manifestations	http://purl.obolibrary.org/obo/MONDO_0017264	UMLS:CN202782|Orphanet:281090|http://identifiers.org/snomedct/717041008|UMLS:C4274085	ordo_disease
MONDO:0017265	biolink:Disease	autosomal recessive congenital ichthyosis	Autosomal recessive form of inherited ichthyosis.	DOID:0060655|OMIMPS:242300|Orphanet:281097	mondo.json	ARCI|autosomal recessive inherited ichthyosis|inherited ichthyosis, autosomal recessive|ichthyosis, congenital, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0017265	https://omim.org/phenotypicSeries/PS242300|Orphanet:281097|DOID:0060655	disease_grouping|ordo_group_of_disorders
MONDO:0030263	biolink:Disease	leukodystrophy, hypomyelinating, 21		OMIM:619310	mondo.json	HLD21|leukodystrophy, hypomyelinating, 21	http://purl.obolibrary.org/obo/MONDO_0030263	https://omim.org/entry/619310	
MONDO:0017250	biolink:Disease	congenital pulmonary airway malformation type 2		Orphanet:280840	mondo.json	congenital cystic disease of the lung type 2|congenital cystic adenomatous malformation of the lung type 2|congenital cystic adenomatoid malformation of the lung type 2|CPAM type 2|CCAM type 2	http://purl.obolibrary.org/obo/MONDO_0017250	Orphanet:280840	ordo_clinical_subtype
MONDO:0005269	biolink:Disease	carotid artery disorder	A disease involving the carotid artery segment.	DOID:3407|UMLS:C0007273|NCIT:C84476|SCTID:371160000|ICD9:447.9|EFO:0003781|MESH:D002340	mondo.json	disorder of carotid artery|carotid artery segment disease or disorder|carotid artery disorder|disorder of carotid artery segment|disease of carotid artery segment|disease or disorder of carotid artery segment|carotid artery segment disease	http://purl.obolibrary.org/obo/MONDO_0005269	http://identifiers.org/snomedct/371160000|http://identifiers.org/mesh/D002340|UMLS:C0007273|DOID:3407|NCIT:C84476	
HGNC:697	biolink:NamedThing	ARL6IP1			mondo.json		http://identifiers.org/hgnc/697		
MONDO:0005266	biolink:Disease	diabetic retinopathy	A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness.	UMLS:C0011884|MESH:D003930|DOID:8947|ICD9:362.0|SCTID:4855003|EFO:0003770|NCIT:C34538	mondo.json	retinal abnormality - diabetes-related	http://purl.obolibrary.org/obo/MONDO_0005266	DOID:8947|http://identifiers.org/mesh/D003930|NCIT:C34538|UMLS:C0011884|http://identifiers.org/snomedct/4855003	
NCBITaxon:213849	biolink:OrganismalEntity	Campylobacterales		GC_ID:11|PMID:16403855	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_213849		
NCBITaxon:10911	biolink:OrganismalEntity	Coltivirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_10911		
MONDO:0005265	biolink:Disease	inflammatory bowel disease	A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type.	KEGG:05321|UMLS:C0021390|NCIT:C3138|ICD9:558.9|SCTID:24526004|OMIMPS:266600|DOID:0050589|EFO:0003767|MESH:D015212	mondo.json	autoimmune bowel disorder|IBD|inflammatory bowel disease	http://purl.obolibrary.org/obo/MONDO_0005265	http://identifiers.org/snomedct/24526004|DOID:0050589|https://omim.org/phenotypicSeries/PS266600|UMLS:C0021390|NCIT:C3138|http://identifiers.org/mesh/D015212	
NCBITaxon:10912	biolink:OrganismalEntity	Rotavirus		GC_ID:1	mondo.json	Rotaviruses	http://purl.obolibrary.org/obo/NCBITaxon_10912		
MONDO:0005268	biolink:Disease	obsolete Hashimoto's thyroiditis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005268		
MONDO:0005267	biolink:Disease	heart disorder	A disease involving the heart and/or pericardium.	SCTID:56265001|ICD9:429.89|ICD9:429.9|EFO:0003777|NCIT:C3079|DOID:114|UMLS:C0018799|UMLS:CN239852|UMLS:CN236661|MESH:D006331|ICD9:V47.2	mondo.json	disorder of heart/pericardium|heart disorder|disease or disorder of heart|heart disease|heart/pericardial disorder|disease of heart|heart disease or disorder|heart/pericardial disease|disorder of heart|heart/pericardial disease or disorder|cardiac disease|heart/pericardial trouble|heart trouble	http://purl.obolibrary.org/obo/MONDO_0005267	http://identifiers.org/snomedct/56265001|DOID:114|UMLS:CN239852|UMLS:CN236661|http://identifiers.org/mesh/D006331|UMLS:C0018799|NCIT:C3079	
HGNC:691	biolink:NamedThing	PHOX2A			mondo.json		http://identifiers.org/hgnc/691		
MONDO:0005262	biolink:Disease	central nervous system cyst	A congenital or acquired cyst that is present in the central nervous system.	HP:0030724|NCIT:C4657|EFO:0003760|MESH:D020863|SCTID:277333006|UMLS:C0349606	mondo.json	cyst, suprasellar|CNS cyst|cleft cysts, Rathke's|Rathke cleft cysts|cysts, suprasellar|Rathke's cleft cysts|cyst of the CNS|cyst of CNS|cyst of Central nervous system|cyst of the Central nervous system|Rathkes cleft cysts|suprasellar cysts|central nervous system cyst|central nervous system cyst (disease)|cysts, central nervous system|cysts, Rathke cleft|suprasellar cyst	http://purl.obolibrary.org/obo/MONDO_0005262	http://identifiers.org/snomedct/277333006|UMLS:C0349606|NCIT:C4657|http://identifiers.org/mesh/D020863	
MONDO:0005261	biolink:Disease	obsolete pervasive developmental disorder - not otherwise specified			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005261		
MONDO:0005264	biolink:Disease	transient ischemic attack	A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit.	NCIT:C50781|MESH:D002546|ICD9:435.8|DOID:224|EFO:0003764|HP:0002326|SCTID:266257000|ICD9:435.9|ICD9:435	mondo.json	ischemic attack, transient|TIA - transient ischaemic attack|transient ischemic attack|TIA|transient cerebral ischaemia|transient ischemic attack (disease)|attack, transient ischemic|transient ischemic attacks|transient cerebral ischemia|transient cerebral ischemia (disorder) [ambiguous]	http://purl.obolibrary.org/obo/MONDO_0005264	http://identifiers.org/mesh/D002546|DOID:224|NCIT:C50781|http://identifiers.org/snomedct/266257000	
MONDO:0005263	biolink:Disease	obsolete unipolar depression			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005263		
GO:0046907	biolink:NamedThing	intracellular transport	The directed movement of substances within a cell.		mondo.json	single organism intracellular transport|single-organism intracellular transport	http://purl.obolibrary.org/obo/GO_0046907		
GO:0032370	biolink:NamedThing	positive regulation of lipid transport	Any process that activates or increases the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	up-regulation of lipid transport|up regulation of lipid transport|activation of lipid transport|stimulation of lipid transport|upregulation of lipid transport	http://purl.obolibrary.org/obo/GO_0032370		
MONDO:0005260	biolink:Disease	autism	Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.	OMIM:300830|OMIM:209850|OMIM:607373|OMIM:300872|OMIM:613436|OMIM:610676|OMIM:615091|OMIM:611016|OMIM:300496|EFO:0003758|DOID:12849|OMIM:300495|OMIM:611015|OMIMPS:209850|OMIM:613410|MESH:D001321|OMIM:610908|OMIM:608636|OMIM:612100|OMIM:300847|NCIT:C97161|ICD9:299.0|OMIM:608049|HP:0000717|OMIM:610836|OMIM:615032|OMIM:609378|OMIM:611913|OMIM:300425	mondo.json	infantile autism|autistic disorder of childhood onset|autism|Kanner's syndrome|autism (disease)|autism, susceptiblity to|autism spectrum disorder|autistic disorder|childhood autism	http://purl.obolibrary.org/obo/MONDO_0005260	http://identifiers.org/mesh/D001321|https://omim.org/entry/209850|NCIT:C97161|DOID:12849	
MONDO:0030270	biolink:Disease	lymphatic malformation 9		OMIM:619319	mondo.json	LMPHM9|lymphatic malformation 9	http://purl.obolibrary.org/obo/MONDO_0030270	https://omim.org/entry/619319	
MONDO:0017259	biolink:Disease	obsolete systemic diseases with anterior uveitis		UMLS:CN202777|Orphanet:280926	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017259	Orphanet:280926|UMLS:CN202777	disease_grouping|ordo_group_of_disorders
GO:0046903	biolink:NamedThing	secretion	The controlled release of a substance by a cell or a tissue.		mondo.json		http://purl.obolibrary.org/obo/GO_0046903		
MONDO:0017255	biolink:Disease	panuveitis	A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers.	DOID:12030|MESH:D015864|ICD9:360.12|NCIT:C84989|SCTID:75614007|MedDRA:10033687|Orphanet:280898|GARD:0008577|EFO:1001082|HP:0012121	mondo.json	panuveitis|diffuse uveitis|panuveitis (disease)|total uveitis	http://purl.obolibrary.org/obo/MONDO_0017255	http://identifiers.org/mesh/D015864|DOID:12030|http://identifiers.org/snomedct/75614007|Orphanet:280898|NCIT:C84989	disease_grouping|ordo_group_of_disorders
MONDO:0017256	biolink:Disease	idiopathic anterior uveitis		UMLS:C0339315|Orphanet:280914|SCTID:231947004	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017256	UMLS:C0339315|http://identifiers.org/snomedct/231947004|Orphanet:280914	ordo_disease
MONDO:0017257	biolink:Disease	idiopathic posterior uveitis	Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported.	Orphanet:280917	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017257	Orphanet:280917	ordo_disease
MONDO:0017258	biolink:Disease	idiopathic panuveitis	Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss.	SCTID:766933000|Orphanet:280921	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017258	http://identifiers.org/snomedct/766933000|Orphanet:280921	ordo_disease
UBERON:5006048	biolink:AnatomicalEntity	digit 1 plus metapodial segment			mondo.json		http://purl.obolibrary.org/obo/UBERON_5006048		
MONDO:0017251	biolink:Disease	congenital pulmonary airway malformation type 3		Orphanet:280847	mondo.json	congenital cystic adenomatoid malformation of the lung type 3|CPAM type 3|CCAM type 3|congenital cystic disease of the lung type 3|congenital cystic adenomatous malformation of the lung type 3	http://purl.obolibrary.org/obo/MONDO_0017251	Orphanet:280847	ordo_clinical_subtype
MONDO:0017252	biolink:Disease	congenital pulmonary airway malformation type 4		Orphanet:280854	mondo.json	congenital cystic adenomatous malformation of the lung type 4|congenital cystic adenomatoid malformation of the lung type 4|CPAM type 4	http://purl.obolibrary.org/obo/MONDO_0017252	Orphanet:280854	ordo_clinical_subtype
GO:0019395	biolink:NamedThing	fatty acid oxidation	The removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen.		mondo.json		http://purl.obolibrary.org/obo/GO_0019395		
CHR:9606-chr8q22.1	biolink:NamedThing	8q22.1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr8q22.1		
MONDO:0017253	biolink:Disease	obsolete anterior uveitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017253		
MONDO:0017254	biolink:Disease	obsolete posterior uveitis			mondo.json	obsolete posterior uveitis (disease)	http://purl.obolibrary.org/obo/MONDO_0017254		
GO:0032369	biolink:NamedThing	negative regulation of lipid transport	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json	down-regulation of lipid transport|down regulation of lipid transport|inhibition of lipid transport|downregulation of lipid transport	http://purl.obolibrary.org/obo/GO_0032369		
MONDO:0005277	biolink:Disease	migraine disorder	A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity.	ICD9:346|DOID:6364|EFO:0003821|NCIT:C89715|MESH:D008881|ICD9:346.9	mondo.json	migraine variant|migraine disorder|migraine with or without aura|migraine headache|migraine	http://purl.obolibrary.org/obo/MONDO_0005277	DOID:6364|NCIT:C89715|http://identifiers.org/mesh/D008881	
HP:0031694	biolink:PhenotypicFeature	Severe adenovirus infection	An unusually severe adenovirus infection.		mondo.json		http://purl.obolibrary.org/obo/HP_0031694		
MONDO:0005276	biolink:Disease	dental caries	The decay of a tooth, in which it becomes softened, discolored, and/or porous.	ICD10CM:K02|ICD9:521.0|EFO:0003819|DOID:216|ICD9:521.07|ICD9:521.00|ICD9:521.06|UMLS:C0011334|SCTID:80967001|MESH:D003731	mondo.json	dental caries of smooth surface|dental caries extending into pulp|dental caries pit and fissure	http://purl.obolibrary.org/obo/MONDO_0005276	DOID:216|UMLS:C0011334|http://purl.bioontology.org/ontology/ICD10CM/K02|http://identifiers.org/snomedct/80967001|http://identifiers.org/mesh/D003731	
MONDO:0005279	biolink:Disease	pulmonary embolism	The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung.	SCTID:59282003|NCIT:C50713|UMLS:C0034065|ICD9:415.19|HP:0002204|MESH:D011655|EFO:0003827|DOID:9477	mondo.json	pulmonary embolism|pulmonary embolism (disease)|embolism, pulmonary|pulmonary embolus|pulmonary artery embolism	http://purl.obolibrary.org/obo/MONDO_0005279	http://identifiers.org/snomedct/59282003|NCIT:C50713|http://identifiers.org/mesh/D011655|UMLS:C0034065|DOID:9477	
MONDO:0005278	biolink:Disease	serous adenocarcinoma	An adenocarcinoma that is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies may be present. Representative examples include cervical serous adenocarcinoma, endometrial serous adenocarcinoma, ovarian serous adenocarcinoma, and primary peritoneal serous adenocarcinoma.	NCIT:C40101|DOID:3114|UMLS:C0206701|EFO:0003825	mondo.json	serous cystadenocarcinoma, NOS (morphologic abnormality)|serous carcinoma|serous adenocarcinoma|serous cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005278	DOID:3114|UMLS:C0206701|NCIT:C40101	
HP:0031690	biolink:PhenotypicFeature	Opportunistic infection	An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system.		mondo.json		http://purl.obolibrary.org/obo/HP_0031690		
MONDO:0005273	biolink:Disease	obsolete refractory anemia with excess blasts			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005273		
MONDO:0005272	biolink:Disease	myelodysplastic syndrome with single lineage dysplasia	A myelodysplastic syndrome characterized by dysplasia seen in at least 10% of the early cells of 1 cell type (either red blood cells, white blood cells, or megakaryocytes) in the bone marrow.	NCIT:C2872|MedDRA:10038269|SCTID:109996008|ICDO:9980/3|MESH:D000753|EFO:0003802|UMLS:C0002893|Orphanet:98826|ICD9:238.72	mondo.json	refractory anemia|MDS with single lineage dysplasia|aregenerative anemia|MDS-SLD|RA	http://purl.obolibrary.org/obo/MONDO_0005272	NCIT:C2872|UMLS:C0002893|http://identifiers.org/mesh/D000753|Orphanet:98826|http://identifiers.org/snomedct/109996008	ordo_disease
HP:0031691	biolink:PhenotypicFeature	Severe viral infection	An unusually severe viral infection.		mondo.json		http://purl.obolibrary.org/obo/HP_0031691		
MONDO:0005275	biolink:Disease	lung disorder	A disease involving the lung.	ICD9:518.89|NCIT:C3198|SCTID:19829001|MESH:D008171|EFO:0003818|DOID:850	mondo.json	pulmonary disorders|lung disease|lung disorders|pulmonary disease|pulmonary diseases|lung disorder|lung disease or disorder|pulmonary disorder|disorder of lung|disease of lung|disease or disorder of lung	http://purl.obolibrary.org/obo/MONDO_0005275	http://identifiers.org/mesh/D008171|DOID:850|http://identifiers.org/snomedct/19829001|NCIT:C3198	
MONDO:0005274	biolink:Disease	obsolete MONDO:0005274			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005274		
CHEBI:60531	biolink:ChemicalSubstance	flavin(1-)	Flavin protonated to pH 7.3		mondo.json	an oxidized flavin	http://purl.obolibrary.org/obo/CHEBI_60531		
MONDO:0005271	biolink:Disease	allergic disease	An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures.	EFO:0003785|ICD9:V15.09|SCTID:609328004|DOID:1205|UMLS:C1527304|NCIT:C114476|MESH:D006967|ICD9:995.3	mondo.json	disorder of type I hypersensitivity|hypersensitivity reaction type I disease|allergic reaction|allergic hypersensitivity disease|allergy|allergic disease or disorder|type I hypersensitivity disease|allergic response|hypersensitivity|allergic form of disease or disorder|allergic form of immune system disease	http://purl.obolibrary.org/obo/MONDO_0005271	NCIT:C114476|DOID:1205|http://identifiers.org/mesh/D006967|http://identifiers.org/snomedct/609328004|UMLS:C1527304	
GO:0046916	biolink:NamedThing	cellular transition metal ion homeostasis	Any process involved in the maintenance of an internal steady state of transition metal ions at the level of a cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver.		mondo.json		http://purl.obolibrary.org/obo/GO_0046916		
MONDO:0005270	biolink:Disease	obsolete motor neuron disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005270		
GO:0046915	biolink:NamedThing	transition metal ion transmembrane transporter activity	Enables the transfer of transition metal ions from one side of a membrane to the other. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver.		mondo.json		http://purl.obolibrary.org/obo/GO_0046915		
MONDO:0030281	biolink:Disease	arthrogryposis multiplex congenita 6		OMIM:619334	mondo.json	arthrogryposis multiplex congenita 6|AMC6	http://purl.obolibrary.org/obo/MONDO_0030281	https://omim.org/entry/619334	
MONDO:0017248	biolink:Disease	congenital pulmonary airway malformation type 0		Orphanet:280827	mondo.json	congenital cystic adenomatous malformation of the lung type 0|congenital cystic adenomatoid malformation of the lung type 0|CPAM type 0	http://purl.obolibrary.org/obo/MONDO_0017248	Orphanet:280827	ordo_clinical_subtype
MONDO:0017249	biolink:Disease	congenital pulmonary airway malformation type 1		Orphanet:280832	mondo.json	congenital cystic adenomatous malformation of the lung type 1|congenital cystic adenomatoid malformation of the lung type 1|CPAM type 1|CCAM type 1|congenital cystic disease of the lung type 1	http://purl.obolibrary.org/obo/MONDO_0017249	Orphanet:280832	ordo_clinical_subtype
MONDO:0017244	biolink:Disease	pseudoxanthomatous diffuse cutaneous mastocytosis	Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.	Orphanet:280794	mondo.json	Pseudoxanthomatous DCM|infiltrative small vesicular DCM|infiltrative small vesicular diffuse cutaneous mastocytosis	http://purl.obolibrary.org/obo/MONDO_0017244	Orphanet:280794	ordo_clinical_subtype
GO:0032368	biolink:NamedThing	regulation of lipid transport	Any process that modulates the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0032368		
MONDO:0017245	biolink:Disease	intralobar congenital pulmonary sequestration		Orphanet:280802	mondo.json	congenital intrapulmonary sequestration|intralobar congenital bronchopulmonary sequestration	http://purl.obolibrary.org/obo/MONDO_0017245	Orphanet:280802	ordo_clinical_subtype
MONDO:0017246	biolink:Disease	extralobar congenital pulmonary sequestration		Orphanet:280811	mondo.json	congenital extrapulmonary sequestration|extralobar congenital bronchopulmonary sequestration	http://purl.obolibrary.org/obo/MONDO_0017246	Orphanet:280811	ordo_clinical_subtype
HP:0006685	biolink:PhenotypicFeature	Endocardial fibrosis	The presence of excessive connective tissue in the endocardium.	MSH:D004719|UMLS:C0553980|SNOMEDCT_US:398716006	mondo.json	Endomyocardial fibrosis	http://purl.obolibrary.org/obo/HP_0006685		
MONDO:0017247	biolink:Disease	communicating congenital bronchopulmonary-foregut malformation		Orphanet:280821	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017247	Orphanet:280821	ordo_clinical_subtype
MONDO:0017240	biolink:Disease	acrodysostosis with multiple hormone resistance		Orphanet:280651|UMLS:CN202748	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017240	UMLS:CN202748|Orphanet:280651	ordo_disease
MONDO:0017241	biolink:Disease	AP4-related intellectual disability and spastic paraplegia	A disorder that presents with spastic paraplegia and intellectual disability in which the cause of the disease is a mutation in the AP4B1 gene.	UMLS:CN202757|Orphanet:280763	mondo.json	AP4 deficiency syndrome|severe intellectual disability and progressive spastic paraplegia|AP4 related intellectual disability and spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0017241	UMLS:CN202757|Orphanet:280763	ordo_disease
MONDO:0017242	biolink:Disease	cutaneous collagenous vasculopathy	Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias.	GARD:0012428|UMLS:C4305323|Orphanet:280779|SCTID:718634003	mondo.json	CCV|cutaneus colagenous vasculopathy	http://purl.obolibrary.org/obo/MONDO_0017242	UMLS:C4305323|http://identifiers.org/snomedct/718634003|Orphanet:280779	ordo_disease
MONDO:0017243	biolink:Disease	bullous diffuse cutaneous mastocytosis	Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.	Orphanet:280785	mondo.json	bullous DCM	http://purl.obolibrary.org/obo/MONDO_0017243	Orphanet:280785	ordo_clinical_subtype
MONDO:0032869	biolink:Disease	mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6		DOID:0111749|OMIM:618683	mondo.json	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6|MC5DN6	http://purl.obolibrary.org/obo/MONDO_0032869	https://omim.org/entry/618683|DOID:0111749	
HGNC:678	biolink:NamedThing	ARHGDIA			mondo.json		http://identifiers.org/hgnc/678		
MONDO:0032867	biolink:Disease	pancreatic cancer, susceptibility to, 5		OMIM:618680	mondo.json	PANCREATIC CANCER, SUSCEPTIBILITY TO, 5|PNCA5	http://purl.obolibrary.org/obo/MONDO_0032867	https://omim.org/entry/618680	
MONDO:0032868	biolink:Disease	lessel-kubisch syndrome		OMIM:618681	mondo.json	LSKB|LESSEL-KUBISCH SYNDROME	http://purl.obolibrary.org/obo/MONDO_0032868	https://omim.org/entry/618681	
MONDO:0032865	biolink:Disease	pulmonary fibrosis and/or bone marrow failure, telomere-related, 5		OMIM:618674	mondo.json	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5|PFBMFT5	http://purl.obolibrary.org/obo/MONDO_0032865	https://omim.org/entry/618674	
MONDO:0032866	biolink:Disease	cortical dysplasia, complex, with other brain malformations 10		OMIM:618677	mondo.json	CDCBM10|CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10	http://purl.obolibrary.org/obo/MONDO_0032866	https://omim.org/entry/618677	
PATO:0000963	biolink:NamedThing	opaque	A optical quality inhering in a bearer by virtue of the bearer's not being clear; not transmitting or reflecting light or radiant energy.		mondo.json	cloudy|clouding|non-transparent	http://purl.obolibrary.org/obo/PATO_0000963		
GO:0007399	biolink:NamedThing	nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.		mondo.json	pan-neural process	http://purl.obolibrary.org/obo/GO_0007399		
GO:0007398	biolink:NamedThing	ectoderm development	The process whose specific outcome is the progression of the ectoderm over time, from its formation to the mature structure. In animal embryos, the ectoderm is the outer germ layer of the embryo, formed during gastrulation.		mondo.json		http://purl.obolibrary.org/obo/GO_0007398		
PATO:0000964	biolink:NamedThing	transparent	A optical quality inhering in a bearer by virtue of the bearer's lacking opacity.		mondo.json	clear|hyaline	http://purl.obolibrary.org/obo/PATO_0000964		
GO:0046929	biolink:NamedThing	negative regulation of neurotransmitter secretion	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a neurotransmitter.		mondo.json	down-regulation of neurotransmitter secretion|downregulation of neurotransmitter secretion|conotoxin activity|down regulation of neurotransmitter secretion|inhibition of neurotransmitter secretion	http://purl.obolibrary.org/obo/GO_0046929		
GO:0046928	biolink:NamedThing	regulation of neurotransmitter secretion	Any process that modulates the frequency, rate or extent of the regulated release of a neurotransmitter from a cell.		mondo.json		http://purl.obolibrary.org/obo/GO_0046928		
OIO:inSubset	biolink:NamedThing	in_subset			mondo.json		http://www.geneontology.org/formats/oboInOwl#inSubset		
MONDO:0032874	biolink:Disease	ciliary dyskinesia, primary, 43		OMIM:618699	mondo.json	Ciliary Dyskinesia, Primary, 43, With or Without Situs Inversus|CILIARY DYSKINESIA, PRIMARY, 43|CILD43	http://purl.obolibrary.org/obo/MONDO_0032874	https://omim.org/entry/618699	
MONDO:0032875	biolink:Disease	short stature and microcephaly with genital anomalies		OMIM:618702	mondo.json	SSMGA|SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES	http://purl.obolibrary.org/obo/MONDO_0032875	https://omim.org/entry/618702	
MONDO:0032872	biolink:Disease	ciliary dyskinesia, primary, 42		OMIM:618695	mondo.json	Ciliary Dyskinesia, Primary, 42, Without Situs Inversus|CILD42|CILIARY DYSKINESIA, PRIMARY, 42	http://purl.obolibrary.org/obo/MONDO_0032872	https://omim.org/entry/618695	
MONDO:0032873	biolink:Disease	retinitis pigmentosa 87 with choroidal involvement		OMIM:618697	mondo.json	RP87|RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT	http://purl.obolibrary.org/obo/MONDO_0032873	https://omim.org/entry/618697	
MONDO:0032870	biolink:Disease	intellectual developmental disorder with short stature and behavioral abnormalities		OMIM:618687|DOID:0111674	mondo.json	IDDSSBA|INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES	http://purl.obolibrary.org/obo/MONDO_0032870	DOID:0111674|https://omim.org/entry/618687	
GO:0032353	biolink:NamedThing	negative regulation of hormone biosynthetic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of hormones.		mondo.json	down regulation of hormone biosynthetic process|inhibition of hormone biosynthetic process|down-regulation of hormone biosynthetic process|downregulation of hormone biosynthetic process	http://purl.obolibrary.org/obo/GO_0032353		
GO:0032352	biolink:NamedThing	positive regulation of hormone metabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving any hormone.		mondo.json	stimulation of hormone metabolic process|upregulation of hormone metabolic process|up-regulation of hormone metabolic process|up regulation of hormone metabolic process|positive regulation of hormone metabolism|activation of hormone metabolic process	http://purl.obolibrary.org/obo/GO_0032352		
MONDO:0032871	biolink:Disease	leukodystrophy, hypomyelinating, 19, transient infantile		OMIM:618688	mondo.json	HLD19|LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE	http://purl.obolibrary.org/obo/MONDO_0032871	https://omim.org/entry/618688	
GO:0032351	biolink:NamedThing	negative regulation of hormone metabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving any hormone.		mondo.json	down-regulation of hormone metabolic process|down regulation of hormone metabolic process|negative regulation of hormone metabolism|downregulation of hormone metabolic process|inhibition of hormone metabolic process	http://purl.obolibrary.org/obo/GO_0032351		
GO:0032350	biolink:NamedThing	regulation of hormone metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving any hormone.		mondo.json	regulation of hormone metabolism	http://purl.obolibrary.org/obo/GO_0032350		
NCBITaxon:46919	biolink:OrganismalEntity	Whitewater Arroyo mammarenavirus		GC_ID:1	mondo.json	Whitewater Arroyo virus	http://purl.obolibrary.org/obo/NCBITaxon_46919		
MONDO:0032878	biolink:Disease	neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia		OMIM:618718	mondo.json	NEDBASH|NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA	http://purl.obolibrary.org/obo/MONDO_0032878	https://omim.org/entry/618718	
MONDO:0032879	biolink:Disease	megabladder, congenital		OMIM:618719	mondo.json	MGBL|MEGABLADDER, CONGENITAL	http://purl.obolibrary.org/obo/MONDO_0032879	https://omim.org/entry/618719	
MONDO:0032876	biolink:Disease	neurodevelopmental disorder with absent language and variable seizures		OMIM:618707	mondo.json	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES|Ito-Raymond Syndrome|NEDALVS	http://purl.obolibrary.org/obo/MONDO_0032876	https://omim.org/entry/618707	
HGNC:685	biolink:NamedThing	ARHGEF6			mondo.json		http://identifiers.org/hgnc/685		
MONDO:0032877	biolink:Disease	neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures		OMIM:618709	mondo.json	NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES|neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures|NEDBAS	http://purl.obolibrary.org/obo/MONDO_0032877	https://omim.org/entry/618709	
GO:0046930	biolink:NamedThing	pore complex	A protein complex providing a discrete opening in a membrane that allows the passage of gases and/or liquids.		mondo.json	pore-forming toxin activity|channel-forming toxin activity|pore	http://purl.obolibrary.org/obo/GO_0046930		
PATO:0000973	biolink:NamedThing	porosity	A structure quality inhering in a bearer by virtue of the bearer's disposition to admit the passage of gas or liquid through pores or interstices.		mondo.json		http://purl.obolibrary.org/obo/PATO_0000973		
GO:0046939	biolink:NamedThing	nucleotide phosphorylation	The process of introducing one or more phosphate groups into a nucleotide to produce a phosphorylated nucleoside.		mondo.json		http://purl.obolibrary.org/obo/GO_0046939		
PATO:0000970	biolink:NamedThing	permeability	A structural quality inhering in a bearer by virtue of the bearer's disposition to being permeated or pervaded by a gas or liquid (as by osmosis or diffusion).		mondo.json		http://purl.obolibrary.org/obo/PATO_0000970		
MONDO:0032885	biolink:Disease	spondyloepimetaphyseal dysplasia, Isidor-Toutain type		OMIM:618728	mondo.json	SEMDIST|SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE	http://purl.obolibrary.org/obo/MONDO_0032885	https://omim.org/entry/618728	
MONDO:0032886	biolink:Disease	Liang-Wang syndrome		OMIM:618729	mondo.json	LIWAS|LIANG-WANG SYNDROME	http://purl.obolibrary.org/obo/MONDO_0032886	https://omim.org/entry/618729	
MONDO:0032883	biolink:Disease	intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures		OMIM:618725	mondo.json	INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES|IDDBCS	http://purl.obolibrary.org/obo/MONDO_0032883	https://omim.org/entry/618725	
MONDO:0032884	biolink:Disease	ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies		OMIM:618727	mondo.json	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES|EDFAOB|ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic	http://purl.obolibrary.org/obo/MONDO_0032884	https://omim.org/entry/618727	
MONDO:0032881	biolink:Disease	premature ovarian failure 16		OMIM:618723	mondo.json	PREMATURE OVARIAN FAILURE 16|POF16	http://purl.obolibrary.org/obo/MONDO_0032881	https://omim.org/entry/618723	
MONDO:0032882	biolink:Disease	Heyn-Sproul-Jackson syndrome		OMIM:618724	mondo.json	Microcephaly, Short Stature, and Impaired Intellectual Development|HEYN-SPROUL-JACKSON SYNDROME|HESJAS	http://purl.obolibrary.org/obo/MONDO_0032882	https://omim.org/entry/618724	
MONDO:0032880	biolink:Disease	developmental and epileptic encephalopathy, 82		OMIM:618721	mondo.json	epileptic encephalopathy, early infantile, 82|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82|EIEE82|DEE82|Glutamate Oxaloacetate Transaminase, Mitochondrial, Deficiency of|developmental and epileptic encephalopathy 82|Got2 Deficiency	http://purl.obolibrary.org/obo/MONDO_0032880	https://omim.org/entry/618721	
MONDO:0017291	biolink:Disease	reversible cerebral vasoconstriction syndrome	Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries.	GARD:0012768|SCTID:700467001|Orphanet:284388|UMLS:C3544214|ICD9:437.8	mondo.json	RCVS	http://purl.obolibrary.org/obo/MONDO_0017291	UMLS:C3544214|Orphanet:284388|http://identifiers.org/snomedct/700467001	gard_rare|ordo_clinical_syndrome
MONDO:0017292	biolink:Disease	well-differentiated fetal adenocarcinoma of the lung	Well-differentiated fetal adenocarcinoma (WDFA) of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss.	UMLS:C1266047|UMLS:CN202865|ICDO:8333/3|UMLS:C1708045|NCIT:C45509|Orphanet:284395	mondo.json	fetal adenocarcinoma|pulmonary adenocarcinoma of fetal type|well-differentiated fetal lung adenocarcinoma|fetal lung adenocarcinoma|pulmonary endodermal tumor resembling fetal lung|WDFA	http://purl.obolibrary.org/obo/MONDO_0017292	UMLS:C1708045|UMLS:CN202865|UMLS:C1266047|Orphanet:284395|NCIT:C45509	ordo_disease
MONDO:0017293	biolink:Disease	obsolete small cell carcinoma of the bladder			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017293		
MONDO:0017294	biolink:Disease	glycerol kinase deficiency, infantile form	Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy.	Orphanet:284408	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017294	Orphanet:284408	ordo_clinical_subtype
MONDO:0032889	biolink:Disease	Poirier-Bienvenu neurodevelopmental syndrome		OMIM:618732	mondo.json	POBINDS|POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME	http://purl.obolibrary.org/obo/MONDO_0032889	https://omim.org/entry/618732	
MONDO:0032887	biolink:Disease	neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity		OMIM:618730	mondo.json	NEDMCMS|NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY|Vandervore-Schot Syndrome	http://purl.obolibrary.org/obo/MONDO_0032887	https://omim.org/entry/618730	
MONDO:0032888	biolink:Disease	neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies		OMIM:618731	mondo.json	NEDBAVC|NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES	http://purl.obolibrary.org/obo/MONDO_0032888	https://omim.org/entry/618731	
MONDO:0017290	biolink:Disease	familial intrahepatic cholestasis	An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome.	ICD9:576.8|UMLS:CN227107|UMLS:CN239338|Orphanet:284385|SCTID:74162007	mondo.json	hereditary intrahepatic cholestasis	http://purl.obolibrary.org/obo/MONDO_0017290	UMLS:CN227107|UMLS:CN239338|Orphanet:284385|http://identifiers.org/snomedct/74162007	disease_grouping|ordo_group_of_disorders
MONDO:0044874	biolink:Disease	refractory cytopenia of childhood	The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood.	NCIT:C82596|ONCOTREE:RCYC	mondo.json	refractory cytopenia of childhood|RCC	http://purl.obolibrary.org/obo/MONDO_0044874	NCIT:C82596	
GO:0046943	biolink:NamedThing	carboxylic acid transmembrane transporter activity	Enables the transfer of carboxylic acids from one side of a membrane to the other. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-).		mondo.json		http://purl.obolibrary.org/obo/GO_0046943		
MONDO:0044873	biolink:Disease	childhood myelodysplastic syndrome	An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults.	NCIT:C68744	mondo.json	myelodysplastic syndrome|childhood MDS|childhood myelodysplastic syndrome	http://purl.obolibrary.org/obo/MONDO_0044873	NCIT:C68744	
GO:0046942	biolink:NamedThing	carboxylic acid transport	The directed movement of carboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-).		mondo.json		http://purl.obolibrary.org/obo/GO_0046942		
MONDO:0044876	biolink:Disease	drug hypersensitivity syndrome	A potentially life-threatening hypersensitivity reaction to a pharmacologic substance that is characterized by rash, lymphadenopathy, fever, hematologic abnormalities and involvement of one or more internal organs.	NCIT:C112208	mondo.json	Drug reaction with eosinophilia and Systemic symptoms|Drug hypersensitivity syndrome|DHS|dress	http://purl.obolibrary.org/obo/MONDO_0044876	NCIT:C112208	
MONDO:0044875	biolink:Disease	coronary microvascular disorder	A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial spasm. Chest pain is a frequently observed symptom.	NCIT:C84478	mondo.json	microvascular endothelium heart disease|heart disease of microvascular endothelium|coronary microvascular disease|CMD	http://purl.obolibrary.org/obo/MONDO_0044875	NCIT:C84478	
PATO:0000984	biolink:NamedThing	porous	A porosity quality inhering in a bearer by virtue of the bearer's being capable of admitting the passage of gas or liquid through pores or interstices.		mondo.json		http://purl.obolibrary.org/obo/PATO_0000984		
MONDO:0044870	biolink:Disease	acquired torsion dystonia	An instance of torsion dystonia that is acquired during the lifetime of the individual.	SCTID:433493000|UMLS:C1719382	mondo.json	acquired torsion dystonia	http://purl.obolibrary.org/obo/MONDO_0044870	http://identifiers.org/snomedct/433493000|UMLS:C1719382	
MONDO:0044872	biolink:Disease	dysautonomia	An acute or chronic disorder, affecting the sympathetic or parasympathetic nervous system. It can be primary, the result of central nervous system degeneration, or secondary due to diabetes or alcoholism. Patients with the chronic form of this disorder usually have a progressive clinical course and a poor prognosis.	NCIT:C53439	mondo.json	dysautonomia	http://purl.obolibrary.org/obo/MONDO_0044872	NCIT:C53439	
MONDO:0044871	biolink:Disease	dystonia, focal, task-specific		OMIM:611284|SCTID:230330004|MESH:C566973	mondo.json	musician's dystonia|task-specific dystonia|musician's cramp|focal task-specific dystonia|task-specific focal dystonia|focal hand dystonia|occupational cramp|FTSD|occupational dystonia|dystonia, focal, task-specific	http://purl.obolibrary.org/obo/MONDO_0044871	http://identifiers.org/snomedct/230330004|https://omim.org/entry/611284|http://identifiers.org/mesh/C566973	
GO:0071902	biolink:NamedThing	positive regulation of protein serine/threonine kinase activity	Any process that increases the rate, frequency, or extent of protein serine/threonine kinase activity.		mondo.json		http://purl.obolibrary.org/obo/GO_0071902		
GO:0019359	biolink:NamedThing	nicotinamide nucleotide biosynthetic process	The chemical reactions and pathways resulting in the formation of nicotinamide nucleotides, any nucleotide that contains combined nicotinamide.		mondo.json	nicotinamide nucleotide synthesis|nicotinamide nucleotide biosynthesis|nicotinamide nucleotide formation|nicotinamide nucleotide anabolism	http://purl.obolibrary.org/obo/GO_0019359		
GO:0071901	biolink:NamedThing	negative regulation of protein serine/threonine kinase activity	Any process that decreases the rate, frequency, or extent of protein serine/threonine kinase activity.		mondo.json		http://purl.obolibrary.org/obo/GO_0071901		
GO:0071900	biolink:NamedThing	regulation of protein serine/threonine kinase activity	Any process that modulates the rate, frequency, or extent of protein serine/threonine kinase activity.		mondo.json		http://purl.obolibrary.org/obo/GO_0071900		
MONDO:0032896	biolink:Disease	spermatogenic failure 42		OMIM:618745	mondo.json	SPERMATOGENIC FAILURE 42|SPGF42	http://purl.obolibrary.org/obo/MONDO_0032896	https://omim.org/entry/618745	
MONDO:0017299	biolink:Disease	acute annular outer retinopathy		Orphanet:284460	mondo.json	AAOR	http://purl.obolibrary.org/obo/MONDO_0017299	Orphanet:284460	ordo_disease
MONDO:0032897	biolink:Disease	intellectual developmental disorder with hypotonia and behavioral abnormalities		OMIM:618748	mondo.json	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES|IDDHBA	http://purl.obolibrary.org/obo/MONDO_0032897	https://omim.org/entry/618748	
MONDO:0032894	biolink:Disease	neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy		OMIM:618741	mondo.json	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY|NEDESBA	http://purl.obolibrary.org/obo/MONDO_0032894	https://omim.org/entry/618741	
MONDO:0032895	biolink:Disease	developmental and epileptic encephalopathy, 83		OMIM:618744	mondo.json	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83|epileptic encephalopathy, early infantile, 83|DEE83|EIEE83|Barakat-Perenthaler Syndrome|developmental and epileptic encephalopathy 83	http://purl.obolibrary.org/obo/MONDO_0032895	https://omim.org/entry/618744	
MONDO:0032892	biolink:Disease	structural brain anomalies with impaired intellectual development and craniosynostosis		OMIM:618736	mondo.json	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS|BAIDCS	http://purl.obolibrary.org/obo/MONDO_0032892	https://omim.org/entry/618736	
MONDO:0017295	biolink:Disease	glycerol kinase deficiency, juvenile form	Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.	Orphanet:284411	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017295	Orphanet:284411	ordo_clinical_subtype
MONDO:0032893	biolink:Disease	pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures		OMIM:618737	mondo.json	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES|PAMDDFS	http://purl.obolibrary.org/obo/MONDO_0032893	https://omim.org/entry/618737	
MONDO:0017296	biolink:Disease	glycerol kinase deficiency, adult form	Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults.	Orphanet:284414	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017296	Orphanet:284414	ordo_clinical_subtype
MONDO:0017297	biolink:Disease	chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids		UMLS:C3854437|Orphanet:284448|GARD:0010779	mondo.json	CLIPPERS	http://purl.obolibrary.org/obo/MONDO_0017297	UMLS:C3854437|Orphanet:284448	ordo_disease
MONDO:0032890	biolink:Disease	neuromuscular disease and ocular or auditory anomalies with or without seizures		OMIM:618733	mondo.json	NMOAS|NEUROMUSCULAR DISEASE AND OCULAR OR AUDITORY ANOMALIES WITH OR WITHOUT SEIZURES	http://purl.obolibrary.org/obo/MONDO_0032890	https://omim.org/entry/618733	
HGNC:649	biolink:NamedThing	ARCN1			mondo.json		http://identifiers.org/hgnc/649		
MONDO:0017298	biolink:Disease	acute zonal occult outer retinopathy	Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include 'whitening of vision' or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy.	ICD9:362.10|MESH:C538223|GARD:0008640|SCTID:312929003|Orphanet:284454|UMLS:C0730298	mondo.json	AZOOR	http://purl.obolibrary.org/obo/MONDO_0017298	UMLS:C0730298|http://identifiers.org/mesh/C538223|http://identifiers.org/snomedct/312929003|Orphanet:284454	gard_rare|ordo_disease
MONDO:0032891	biolink:Disease	aneurysm, intracranial berry, 12		OMIM:618734	mondo.json	ANEURYSM, INTRACRANIAL BERRY, 12|ANIB12	http://purl.obolibrary.org/obo/MONDO_0032891	https://omim.org/entry/618734	
MONDO:0017280	biolink:Disease	demodicidosis	Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings.	UMLS:C3854478|GARD:0001802|Orphanet:283	mondo.json	demodectic mange|Demodex disease or disorder|Demodicosis|Demodex infectious disease|Demodex caused disease or disorder|red mange	http://purl.obolibrary.org/obo/MONDO_0017280	UMLS:C3854478|Orphanet:283	gard_rare|ordo_disease
MONDO:0017281	biolink:Disease	renal caliceal diverticuli-deafness syndrome		Orphanet:2838|UMLS:CN202834	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017281	UMLS:CN202834|Orphanet:2838	ordo_malformation_syndrome
MONDO:0017282	biolink:Disease	alveolar echinococcosis	Alveolar echinococcosis (AE) is a rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis. AE is characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice.	MedDRA:10053042|DOID:12148|ICD9:122.7|UMLS:C0152069|MESH:C536591|GARD:0000207|Orphanet:284|UMLS:C0948954|SCTID:21009004	mondo.json	Echinococcus multilocularis infection|Echinococcus multilocularis disease or disorder|Echinococcus multilocularis infectious disease|echinococcosis|Echinococcus multilocularis caused disease or disorder|alveolococcosis|multilocular hydatid|small fox tapeworm|echinococcus multilocularis infection	http://purl.obolibrary.org/obo/MONDO_0017282	DOID:12148|UMLS:C0152069|http://identifiers.org/snomedct/21009004|Orphanet:284|http://identifiers.org/mesh/C536591	ordo_disease|gard_rare
MONDO:0017283	biolink:Disease	DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion		UMLS:CN202845|Orphanet:284169	mondo.json	10p12p11 microdeletion syndrome|monosomy 10p11.21p12.31|deletion 10p11.21p12.31|facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion|Del(10)(p11.21p12.31)	http://purl.obolibrary.org/obo/MONDO_0017283	Orphanet:284169|UMLS:CN202845	ordo_clinical_subtype
MONDO:0032898	biolink:Disease	spermatogenic failure 43		OMIM:618751	mondo.json	SPGF43|SPERMATOGENIC FAILURE 43	http://purl.obolibrary.org/obo/MONDO_0032898	https://omim.org/entry/618751	
HGNC:663	biolink:NamedThing	ARG1			mondo.json		http://identifiers.org/hgnc/663		
MONDO:0032899	biolink:Disease	neutropenia, severe congenital, 8, autosomal dominant		OMIM:618752	mondo.json	Shwachman-Diamond Syndrome-Like|SCN8|NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT|Neutropenia, Severe Congenital, 8, Autosomal Dominant, With or Without Pancreatic Dysfunction And/Or Neurologic Abnormalities	http://purl.obolibrary.org/obo/MONDO_0032899	https://omim.org/entry/618752	
MONDO:0044885	biolink:Disease	tonsillar lipoma	A benign adipose tissue neoplasm of the tonsils.	NCIT:C5989|UMLS:C1336764	mondo.json	tonsillar lipoma|tonsil lipoma|lipoma of tonsil|lipoma of the tonsil	http://purl.obolibrary.org/obo/MONDO_0044885	UMLS:C1336764|NCIT:C5989	
HP:0031650	biolink:PhenotypicFeature	Abnormal atrioventricular valve physiology	Any functional defect of the mitral or tricuspid valve.		mondo.json		http://purl.obolibrary.org/obo/HP_0031650		
MONDO:0044884	biolink:Disease	tonsillar lymphoma	A primary lymphoma that affects the tonsil and the bulk of the tumor is in this anatomic area. The majority of cases are B-cell non-Hodgkin lymphomas.	UMLS:C1336765|NCIT:C5918	mondo.json	Primary tonsillar lymphoma|lymphoma of tonsil|lymphoma of the tonsil|tonsillar lymphoma|tonsil lymphoma	http://purl.obolibrary.org/obo/MONDO_0044884	UMLS:C1336765|NCIT:C5918	
HP:0031652	biolink:PhenotypicFeature	Abnormal aortic valve physiology			mondo.json		http://purl.obolibrary.org/obo/HP_0031652		
MONDO:0044887	biolink:Disease	central nervous system non-hodgkin lymphoma	A non-Hodgkin lymphoma that arises from the central nervous system.	SCTID:448254007|NCIT:C114779|UMLS:C2213246	mondo.json	non-Hodgkin lymphoma of central nervous system|Primary Central nervous system non-Hodgkin lymphoma|central nervous system non-Hodgkin lymphoma|Central nervous system non-Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0044887	NCIT:C114779|http://identifiers.org/snomedct/448254007|UMLS:C2213246	
GO:0046952	biolink:NamedThing	ketone body catabolic process	The chemical reactions and pathways resulting in the breakdown of ketone bodies, any one of the three substances: acetoacetate, D-3-hydroxybutyrate (beta-hydroxybutyrate) or acetone. Ketone bodies can be used as an energy source as an alternative to glucose. Utilization of ketone bodies in peripheral tissues involves conversion of acetoacetate to acetoacetyl-CoA, which is then converted to two molecules of acetyl-CoA.		mondo.json	ketone body degradation|ketolysis|utilization of ketone bodies|ketone body catabolism|ketone body breakdown	http://purl.obolibrary.org/obo/GO_0046952		
HP:0031653	biolink:PhenotypicFeature	Abnormal heart valve physiology	Any functional abnormality of a cardiac valve.		mondo.json		http://purl.obolibrary.org/obo/HP_0031653		
MONDO:0044881	biolink:Disease	hematopoietic and lymphoid cell neoplasm	A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes.	NCIT:C27134	mondo.json	hematological tumor|hematopoietic malignancy, NOS|hematopoietic, Including myeloma|hematological neoplasm|hematopoietic cell tumor|hematopoietic cancer|hematopoietic and lymphoid cell neoplasm|hematologic malignancy|hematopoietic tumor|malignant hematologic neoplasm|hematologic neoplasm|malignant hematopoietic neoplasm|hematopoietic and lymphoid neoplasms|hematopoietic neoplasms including lymphomas|hematopoietic neoplasm|HEMOLYMPHORETICULAR tumor, malignant|hematologic cancer	http://purl.obolibrary.org/obo/MONDO_0044881	NCIT:C27134	
GO:0046950	biolink:NamedThing	cellular ketone body metabolic process	The chemical reactions and pathways involving ketone bodies, any one of the three substances: acetoacetate, D-3-hydroxybutyrate (beta-hydroxybutyrate) or acetone, as carried out by individual cells. Although 3-hydroxybutyrate is not a ketone, it is classed as a ketone body because it exists in an equilibrium with acetoacetate. Ketone bodies may accumulate in excessive amounts in the body in starvation, diabetes mellitus or in other defects of carbohydrate metabolism.		mondo.json	cellular ketone body metabolism	http://purl.obolibrary.org/obo/GO_0046950		
PATO:0000998	biolink:NamedThing	viscous	A viscosity quality inhering in a bearer by virtue of the bearer's having viscosity.		mondo.json		http://purl.obolibrary.org/obo/PATO_0000998		
MONDO:0044880	biolink:Disease	cystic tumor of the pancreas		ONCOTREE:PACT	mondo.json		http://purl.obolibrary.org/obo/MONDO_0044880		
GO:0034982	biolink:NamedThing	mitochondrial protein processing	The peptide cleavage of mitochondrial proteins, including cleavage contributing to their import.		mondo.json	mitochondrial protein modification	http://purl.obolibrary.org/obo/GO_0034982		
MONDO:0044878	biolink:Disease	adult germ cell tumor	A germ cell tumor that occurs during adulthood.	NCIT:C114777	mondo.json	Adult germ cell tumor|germ cell tumor of adults|germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0044878	NCIT:C114777	
MONDO:0044877	biolink:Disease	paraneoplastic cerebellar degeneration	A rare, immune-mediated disorder characterized by cerebellar degeneration due to the presence of an often undetected malignancy (usually carcinoma or lymphoma) in an anatomic site other than the cerebellum. Signs and symptoms include progressive ataxia, dysarthria, and nystagmus.	MESH:D020362|NCIT:C4685	mondo.json	paraneoplastic cerebellar Degeneration	http://purl.obolibrary.org/obo/MONDO_0044877	http://identifiers.org/mesh/D020362|NCIT:C4685	
PATO:0000992	biolink:NamedThing	viscosity	A physical quality of a liquid inhering in a bearer by virtue of the bearer's disposition to internal resistance to flow.		mondo.json		http://purl.obolibrary.org/obo/PATO_0000992		
MONDO:0044879	biolink:Disease	pancreatic mucinous-cystic neoplasm	A non-invasive or invasive cystic epithelial neoplasm that affects almost exclusively females. It is characterized by the presence of columnar mucin-producing epithelial cells and ovarian-type stroma formation.	ONCOTREE:MCN|NCIT:C41247	mondo.json	Pancreatic mucinous cystic neoplasm|mucinous cystic neoplasm|Pancreatic mucinous-cystic neoplasm	http://purl.obolibrary.org/obo/MONDO_0044879	NCIT:C41247	
MONDO:0017288	biolink:Disease	DICER1 syndrome	A rare, autosomal dominant inherited syndrome caused by mutations in the DICER1 gene. People with this syndrome are at an increased risk of developing pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumor of the ovary, and multinodular goiter.	Orphanet:284343|UMLS:CN202862|ICD9:199.1|UMLS:C3839822|NCIT:C123317|UMLS:CN240512|EFO:0009068|SCTID:702411003|GARD:0010734	mondo.json	PPBFTDS|DICER1-related pleuropulmonary blastoma|pleuropulmonary blastoma familial tumor susceptibility syndrome|PPB familial tumor susceptibility syndrome|pleuro-pulmonary blastoma familial tumor susceptibility syndrome|DICER1-related pleuropulmonary blastoma cancer predisposition syndrome|DICER1 syndrome	http://purl.obolibrary.org/obo/MONDO_0017288	UMLS:CN240512|UMLS:C3839822|http://identifiers.org/snomedct/702411003|NCIT:C123317|UMLS:CN202862|Orphanet:284343	gard_rare|ordo_clinical_subtype
MONDO:0017289	biolink:Disease	fetal lung interstitial tumor		UMLS:CN202863|Orphanet:284362	mondo.json	flit|immature interstitial mesenchymal tumor	http://purl.obolibrary.org/obo/MONDO_0017289	Orphanet:284362|UMLS:CN202863	ordo_clinical_subtype
MONDO:0017284	biolink:Disease	Xp22.13p22.2 duplication syndrome		Orphanet:284180|UMLS:CN202846	mondo.json	Duplication Xp22|dup(X)(p22)|dup(X)(p22.13p22.2)	http://purl.obolibrary.org/obo/MONDO_0017284	UMLS:CN202846|Orphanet:284180	ordo_malformation_syndrome
MONDO:0017285	biolink:Disease	penoscrotal transposition	Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).	MedDRA:10067287|HP:0100600|MESH:C536650|UMLS:C1868854|SCTID:312005008|GARD:0004273|Orphanet:2842|NCIT:C99010	mondo.json	congenital penoscrotal transposition|Prepenile scrotum|congenital transposition of the penis|penoscrotal transposition|penoscrotal transposition (disease)	http://purl.obolibrary.org/obo/MONDO_0017285	NCIT:C99010|http://identifiers.org/mesh/C536650|http://identifiers.org/snomedct/312005008|UMLS:C1868854|Orphanet:2842	ordo_morphological_anomaly
MONDO:0017286	biolink:Disease	tempi syndrome	TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting.	NCIT:C121656|SCTID:718614004|UMLS:C3854394|Orphanet:284227|GARD:0010962	mondo.json	telangiectasia - erythrocytosis - monoclonal gammopathy - perinephric-fluid collections - intrapulmonary shunting|telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome	http://purl.obolibrary.org/obo/MONDO_0017286	UMLS:C3854394|http://identifiers.org/snomedct/718614004|Orphanet:284227|NCIT:C121656	ordo_clinical_syndrome|gard_rare
GO:0019362	biolink:NamedThing	pyridine nucleotide metabolic process	The chemical reactions and pathways involving a pyridine nucleotide, a nucleotide characterized by a pyridine derivative as a nitrogen base.		mondo.json	pyridine nucleotide metabolism	http://purl.obolibrary.org/obo/GO_0019362		
MONDO:0017287	biolink:Disease	IgG4-related disease	A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased.	MedDRA:10071569|NCIT:C95992|GARD:0012521|Orphanet:284264|UMLS:C3203653|Orphanet:596448|DOID:0080356	mondo.json	hyper-IgG4 disease|multifocal idiopathic fibrosclerosis|IgG4-related autoimmune disease|IgG4-associated disease|IgG4-syndrome|IgG4-related systemic disease|IgG4-related systemic sclerosing disease|IgG4-positive multiorgan lymphoproliferative syndrome|multifocal fibrosclerosis|IgG4-RD|IgG4-related sclerosing disease|Immunoglobulin G4-related sclerosing disease|systemic IgG4-related sclerosing syndrome|systemic IgG4-related plasmacytic syndrome	http://purl.obolibrary.org/obo/MONDO_0017287	Orphanet:596448|UMLS:C3203653|NCIT:C95992|DOID:0080356|Orphanet:284264	ordo_disease|disease_grouping|ordo_group_of_disorders
GO:0019363	biolink:NamedThing	pyridine nucleotide biosynthetic process	The chemical reactions and pathways resulting in the formation of a pyridine nucleotide, a nucleotide characterized by a pyridine derivative as a nitrogen base.		mondo.json	pyridine nucleotide anabolism|pyridine nucleotide synthesis|pyridine nucleotide biosynthesis|pyridine nucleotide formation	http://purl.obolibrary.org/obo/GO_0019363		
MONDO:0005329	biolink:Disease	obsolete vascular sarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005329		
MONDO:0005328	biolink:Disease	eye disorder	A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma.	ICD9:360.89|UMLS:C0015397|ICD9:360.29|SCTID:371405004|ICD9:360.9|NCIT:C26767|DOID:1242|ICD9:379.90|ICD9:360|MESH:D005128|ICD9:379.8|DOID:5614|EFO:0003966	mondo.json	disorder of eye proper|disorder of eyeball|eyeball of camera-type eye disease or disorder|disorder of globe|disorder of eyeball of camera-type eye|disease or disorder of eyeball of camera-type eye|eye disease|disease of eye|globe disease|disease of eyeball of camera-type eye|disorder of eye|eyeball of camera-type eye disease|disease of eyeball|eye disorder	http://purl.obolibrary.org/obo/MONDO_0005328	DOID:5614|http://identifiers.org/snomedct/371405004|http://identifiers.org/mesh/D005128|DOID:1242|NCIT:C26767|UMLS:C0015397	
MONDO:0007988	biolink:Disease	autosomal dominant primary microcephaly	Autosomal dominant form of microcephaly (disease).	OMIM:616311|Orphanet:2514|DOID:14725|OMIM:156580|MESH:C537323|UMLS:C0220693|UMLS:C4755316|GARD:0003605	mondo.json	microcephaly, autosomal dominant|autosomal dominant microcephaly|microcephaly with autosomal dominant inheritance|microcephaly autosomal dominant|microcephaly (disease), autosomal dominant|autosomal dominant primary microcephaly	http://purl.obolibrary.org/obo/MONDO_0007988	UMLS:C4755316|http://identifiers.org/mesh/C537323|DOID:14725|https://omim.org/entry/156580|Orphanet:2514	gard_rare|ordo_etiological_subtype
MONDO:0005325	biolink:Disease	radius fracture	Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken.	MESH:D011885|SCTID:12676007|EFO:0003957	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005325	http://identifiers.org/snomedct/12676007|http://identifiers.org/mesh/D011885	
MONDO:0005324	biolink:Disease	seasonal allergic rhinitis	Allergic rhinitis caused by outdoor allergens.	SCTID:367498001|MESH:D006255|EFO:0003956|NCIT:C92188	mondo.json	seasonal allergic rhinitis|hay fever	http://purl.obolibrary.org/obo/MONDO_0005324	NCIT:C92188|http://identifiers.org/mesh/D006255|http://identifiers.org/snomedct/367498001	
MONDO:0007989	biolink:Disease	congenital microcoria	Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma.	GARD:0003635|Orphanet:566|MESH:C537550|OMIM:156600|SCTID:400962005	mondo.json	Mcor|chromosome 13Q32 deletion syndrome|pinhole pupils|congenital miosis|microcoria, congenital|miosis, congenital	http://purl.obolibrary.org/obo/MONDO_0007989	http://identifiers.org/mesh/C537550|http://identifiers.org/snomedct/400962005|Orphanet:566|https://omim.org/entry/156600	ordo_malformation_syndrome|gard_rare
MONDO:0007986	biolink:Disease	metatropic dysplasia	Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.	DOID:0111514|MESH:C537356|Orphanet:2635|GARD:0003571|OMIM:156530|SCTID:22764001	mondo.json	Metatropic dysplasia, nonlethal dominant|Metatropic dwarfism|metatropic dysplasia	http://purl.obolibrary.org/obo/MONDO_0007986	DOID:0111514|https://omim.org/entry/156530|http://identifiers.org/snomedct/22764001|Orphanet:2635|http://identifiers.org/mesh/C537356	ordo_disease|gard_rare
MONDO:0032942	biolink:Disease	neurodevelopmental disorder with microcephaly and dysmorphic facies		OMIM:618828	mondo.json	nabais sa-de vries syndrome, type 1|NEDMIDF|NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND DYSMORPHIC FACIES	http://purl.obolibrary.org/obo/MONDO_0032942	https://omim.org/entry/618828	
MONDO:0005327	biolink:Disease	hip fracture	Traumatic or pathological injury to the hip in which the continuity of either the femoral head, femoral neck, intertrochanteric or subtrochanteric regions is broken. Symptoms include pain in the hip or groin, bruising and swelling in and around the hip area. The injured hip is turned outward and the leg appears shorter on that side.	EFO:0003964|SCTID:263225007|MESH:D006620	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005327	http://identifiers.org/mesh/D006620|http://identifiers.org/snomedct/263225007	
MONDO:0007987	biolink:Disease	Kniest dysplasia	Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).	OMIM:156550|MESH:C537207|SCTID:53974002|NCIT:C125594|DOID:0080045|ICD9:756.9|GARD:0006841|UMLS:C0265279|Orphanet:485	mondo.json	Kniest dysplasia	http://purl.obolibrary.org/obo/MONDO_0007987	UMLS:C0265279|Orphanet:485|https://omim.org/entry/156550|NCIT:C125594|http://identifiers.org/snomedct/53974002|DOID:0080045|http://identifiers.org/mesh/C537207	ordo_disease|gard_rare
MONDO:0032943	biolink:Disease	neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies		OMIM:618829	mondo.json	NEDMACE|NEURODEVELOPMENTAL DISORDER WITH RELATIVE MACROCEPHALY AND WITH OR WITHOUT CARDIAC OR ENDOCRINE ANOMALIES|nabais sa-de vries syndrome, type 2	http://purl.obolibrary.org/obo/MONDO_0032943	https://omim.org/entry/618829	
MONDO:0005326	biolink:Disease	sunburn	An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering.	ICD9:692.71|ICD10CM:L55|SCTID:403194002|MESH:D013471|EFO:0003958	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005326	http://identifiers.org/mesh/D013471|http://purl.bioontology.org/ontology/ICD10CM/L55|http://identifiers.org/snomedct/403194002	
MONDO:0005321	biolink:Disease	Fuchs' endothelial dystrophy	Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.	Orphanet:98974|UMLS:C0016781|NCIT:C84721|EFO:0003946|DOID:11555|UMLS:CN207231|SCTID:193839007|OMIMPS:136800|MESH:D005642	mondo.json	corneal dystrophy, Fuchs endothelial|Fuchs' corneal dystrophy|FECD|FCED|late hereditary endothelial dystrophy|Fuchs' endothelial corneal dystrophy|Fuchs endothelial dystrophy|Endoepithelial corneal dystrophy|Fuchs endothelial corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0005321	Orphanet:98974|UMLS:CN207231|http://identifiers.org/mesh/D005642|DOID:11555|NCIT:C84721|UMLS:C0016781|http://identifiers.org/snomedct/193839007|https://omim.org/phenotypicSeries/PS136800	ordo_disease
MONDO:0007984	biolink:Disease	metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.	DOID:0111513|Orphanet:2504|OMIM:156510|UMLS:CN201864|GARD:0003568	mondo.json	MDMHB|metaphyseal dysplasia maxillary hypoplasia brachydactyly|metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	http://purl.obolibrary.org/obo/MONDO_0007984	DOID:0111513|https://omim.org/entry/156510|Orphanet:2504|UMLS:CN201864	ordo_malformation_syndrome|gard_rare
MONDO:0007985	biolink:Disease	metatarsus varus, type 1		MESH:C563585|UMLS:C1834968|OMIM:156520	mondo.json	metatarsus varus, type I	http://purl.obolibrary.org/obo/MONDO_0007985	http://identifiers.org/mesh/C563585|https://omim.org/entry/156520|UMLS:C1834968	
MONDO:0005320	biolink:Disease	tibia fracture	Traumatic or pathological injury to the tibia in which the continuity of the bone is broken.	SCTID:31978002|EFO:0003944|MESH:D013978	mondo.json	bone fracture of tibia|tibia bone fracture	http://purl.obolibrary.org/obo/MONDO_0005320	http://identifiers.org/mesh/D013978|http://identifiers.org/snomedct/31978002	other_hierarchy
MONDO:0007982	biolink:Disease	metaphyseal chondrodysplasia, Jansen type	Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.	GARD:0000079|NCIT:C131868|SCTID:24629003|UMLS:C0265295|DOID:0080020|MESH:C537564|OMIM:156400|Orphanet:33067	mondo.json	metaphyseal chondrodysplasia, murk Jansen type|metaphyseal chondrodysplasia, Jansen type|Jansen metaphyseal chondrodysplasia|Jansen's metaphyseal chondrodysplasia|Jansen type metaphyseal chondrodysplasia|Jansen metaphyseal dysostosis|metaphyseal chondrodysplasia murk Jansen type|murk Jansen type metaphyseal chondrodysplasia|Jansen disease	http://purl.obolibrary.org/obo/MONDO_0007982	NCIT:C131868|https://omim.org/entry/156400|Orphanet:33067|http://identifiers.org/snomedct/24629003|DOID:0080020|UMLS:C0265295|http://identifiers.org/mesh/C537564	ordo_disease|gard_rare
MONDO:0005323	biolink:Disease	bacterial sexually transmitted disease	Bacterial diseases that are potentially transmitted or propagated by sexual conduct.	UMLS:C0036917|MESH:D015231|EFO:0003955	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005323	UMLS:C0036917|http://identifiers.org/mesh/D015231	
MONDO:0005322	biolink:Disease	ulna fracture	Fractures of the larger bone of the forearm.	EFO:0003950|MESH:D014458|SCTID:54556006	mondo.json	bone fracture of ulna|ulna bone fracture	http://purl.obolibrary.org/obo/MONDO_0005322	http://identifiers.org/snomedct/54556006|http://identifiers.org/mesh/D014458	
MONDO:0007983	biolink:Disease	Schmid metaphyseal chondrodysplasia	Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.	DOID:0080021|GARD:0007029|SCTID:29248006|Orphanet:174|MESH:C537352|OMIM:156500	mondo.json	spondylometaphyseal dysplasia, Japanese type|Schmid type metaphyseal dysplasia|metaphyseal chondrodysplasia, Schmid type|metaphyseal chondrodysplasia Schmid type|Japanese type spondylometaphyseal dysplasia|MCDS	http://purl.obolibrary.org/obo/MONDO_0007983	http://identifiers.org/snomedct/29248006|https://omim.org/entry/156500|DOID:0080021|http://identifiers.org/mesh/C537352|Orphanet:174	ordo_disease
MONDO:0007980	biolink:Disease	metachromasia of fibroblasts		OMIM:156300	mondo.json	metachromasia of fibroblasts	http://purl.obolibrary.org/obo/MONDO_0007980	https://omim.org/entry/156300	
MONDO:0007981	biolink:Disease	metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A		UMLS:C1835007|OMIM:156310|MESH:C563587	mondo.json	metachromatic leukodystrophy, adult-onset, with normal arylsulfatase type a|metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A	http://purl.obolibrary.org/obo/MONDO_0007981	http://identifiers.org/mesh/C563587|https://omim.org/entry/156310|UMLS:C1835007	
MONDO:0044926	biolink:Disease	oropharyngeal carcinoma	Carcinoma, predominantly squamous cell, arising from the epithelial cells of the oropharynx.	NCIT:C9105	mondo.json	oropharyngeal cancer|oropharyngeal carcinoma|oropharynx carcinoma|cancer of oropharynx|cancer of the oropharynx|carcinoma of oropharynx|carcinoma of the oropharynx|oropharyngeal throat cancer	http://purl.obolibrary.org/obo/MONDO_0044926	NCIT:C9105	
MONDO:0020959	biolink:Disease	Mansonella ozzardi infection	An infection that is caused by the organism Mansonella ozzardi.	UMLS:C0016089|NCIT:C34612|ICD9:125.5|SCTID:30865009	mondo.json	filariasis ozzardi|Filariasis ozzardi|Ozzardian filariasis|mansonella ozzardi infection	http://purl.obolibrary.org/obo/MONDO_0020959	http://identifiers.org/snomedct/30865009|UMLS:C0016089|NCIT:C34612	
MONDO:0017318	biolink:Disease	phakomatosis pigmentovascularis		Orphanet:2875|MESH:C537894|GARD:0004312|ICD9:709.09|SCTID:403545005	mondo.json	Phacomatosis pigmentovascularis|PPv|phakomatosis pigmentovascularis|association of cutaneous vascular malformations and different pigmentary disorders|port-wine stain with oculocutaneous melanosis	http://purl.obolibrary.org/obo/MONDO_0017318	Orphanet:2875|http://identifiers.org/mesh/C537894|http://identifiers.org/snomedct/403545005	ordo_disease
MONDO:0044925	biolink:Disease	oral cavity carcinoma	A carcinoma arising in the oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma.	UMLS:C0151546|NCIT:C8990	mondo.json	oral cavity cancer|oral cavity carcinoma|mouth carcinoma|carcinoma of the oral cavity|carcinoma of mouth|carcinoma of oral cavity	http://purl.obolibrary.org/obo/MONDO_0044925	NCIT:C8990|UMLS:C0151546	
MONDO:0017319	biolink:Disease	hereditary elliptocytosis	Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.	NCIT:C35882|MESH:D004612|SCTID:178935009|GARD:0006621|DOID:2373|Orphanet:288|ICD10CM:D58.1|MedDRA:10014490|ICD9:282.1|UMLS:C0013902	mondo.json	congenital elliptocytosis|hereditary ovalocytosis|HE|ovalocytosis	http://purl.obolibrary.org/obo/MONDO_0017319	Orphanet:288|NCIT:C35882|http://purl.bioontology.org/ontology/ICD10CM/D58.1|UMLS:C0013902|DOID:2373|http://identifiers.org/snomedct/178935009|http://identifiers.org/mesh/D004612	ordo_disease
MONDO:0017314	biolink:Disease	Ehlers-Danlos syndrome, vascular type	Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.	SCTID:17025000|Orphanet:286|NCIT:C125699|GARD:0002082	mondo.json	vEDS|Ehlers-Danlos syndrome type 4|Ehlers-Danlos syndrome type IV (formerly)|Ehlers-Danlos syndrome, vascular type|EDS type 4|EDS IV|EDS IV (formerly)|EDS type 4 (formerly)|Ehlers Danlos syndrome, sack-Barabas type|Ehlers-Danlos syndrome type 4 (formerly)|Ehlers-Danlos syndrome type IV|vascular EDS|sack-Barabas syndrome|Ehlers Danlos syndrome, arterial type|EDS4 (formerly)|Ehlers Danlos syndrome, ecchymotic type|Ehlers-Danlos syndrome, type IV|vascular Ehlers-Danlos syndrome	http://purl.obolibrary.org/obo/MONDO_0017314	Orphanet:286|NCIT:C125699|http://identifiers.org/snomedct/17025000	ordo_disease|clingen
MONDO:0019977	biolink:Disease	parkinsonism with dementia of Guadeloupe	Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction.	Orphanet:97355|ICD10EXP:G20+|UMLS:CN206908|SCTID:715737004|ICD10EXP:F02.3*	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019977	Orphanet:97355|http://identifiers.org/snomedct/715737004|UMLS:CN206908	ordo_disease
MONDO:0017315	biolink:Disease	short stature-webbed neck-heart disease syndrome	Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents.	SCTID:721073008|MESH:C535613|GARD:0000583|UMLS:C2930950|Orphanet:2865	mondo.json	Al Gazali Aziz Salem syndrome|Al Gazali-Aziz-Salem syndrome|short stature, intellectual disability, facial dysmorphism, short webbed neck, skin changes and congenital heart disease|short stature, webbed neck, heart disease	http://purl.obolibrary.org/obo/MONDO_0017315	Orphanet:2865|http://identifiers.org/snomedct/721073008|http://identifiers.org/mesh/C535613|UMLS:C2930950	ordo_malformation_syndrome
MONDO:0044921	biolink:Disease	atypical lymphoproliferative disorder		SCTID:20991001|NCIT:C7764|UMLS:C0272217	mondo.json	atypical lymphoproliferative disorder|atypical lymphoid hyperplasia	http://purl.obolibrary.org/obo/MONDO_0044921	NCIT:C7764|UMLS:C0272217|http://identifiers.org/snomedct/20991001	
MONDO:0019976	biolink:Disease	dementia pugilistica	Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from diffuse axonal injury; intracranial hemorrhages; brain edema; and other conditions. Clinical features may include dementia; focal neurologic deficits; persistent vegetative state; akinetic mutism; or coma.	MESH:D020208|Orphanet:97353|UMLS:CN206907|SCTID:230283005	mondo.json	punch-drunk syndrome|chronic traumatic encephalopathy|Boxer's dementia	http://purl.obolibrary.org/obo/MONDO_0019976	Orphanet:97353|http://identifiers.org/snomedct/230283005|UMLS:CN206907|http://identifiers.org/mesh/D020208	ordo_disease
MONDO:0017316	biolink:Disease	short stature-deafness-neutrophil dysfunction-dysmorphism syndrome	Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterised by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections).	GARD:0004841|SCTID:716192009|Orphanet:2866	mondo.json	short stature deafness neutrophil dysfunction|thong-Douglas-Ferrante syndrome|thong Douglas Ferrante syndrome	http://purl.obolibrary.org/obo/MONDO_0017316	Orphanet:2866|http://identifiers.org/snomedct/716192009	ordo_malformation_syndrome
MONDO:0019979	biolink:Disease	renal hypoplasia, unilateral	Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present.	ICD10CM:Q60.3|Orphanet:97361	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019979	Orphanet:97361|http://purl.bioontology.org/ontology/ICD10CM/Q60.3	ordo_clinical_subtype
MONDO:0044924	biolink:Disease	obsolete acute myeloid leukemia with mutated CEBPA			mondo.json		http://purl.obolibrary.org/obo/MONDO_0044924		
MONDO:0019978	biolink:Disease	Robinow syndrome	Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.	GARD:0000312|OMIMPS:268310|DOID:0060254|UMLS:CN776872|NCIT:C85048|Orphanet:97360|UMLS:C0265205	mondo.json	Robinow dwarfism|Robinow-Silverman-Smith syndrome|acral dysostosis with facial and genital abnormalities|Covesdem syndrome (formerly)|costovertebral segmentation defect with mesomelia (formerly)|mesomelic dwarfism-small genitalia syndrome|fetal face syndrome	http://purl.obolibrary.org/obo/MONDO_0019978	UMLS:C0265205|Orphanet:97360|NCIT:C85048|DOID:0060254|UMLS:CN776872|https://omim.org/phenotypicSeries/PS268310	ordo_malformation_syndrome
MONDO:0017317	biolink:Disease	phakomatosis pigmentokeratotica	Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies.	Orphanet:2874|SCTID:723455009|MESH:C537893|GARD:0004311|UMLS:C2931658	mondo.json	Phacomatosis pigmentokeratotica|organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies	http://purl.obolibrary.org/obo/MONDO_0017317	Orphanet:2874|http://identifiers.org/snomedct/723455009|http://identifiers.org/mesh/C537893|UMLS:C2931658	ordo_malformation_syndrome
MONDO:0044923	biolink:Disease	acute myeloid leukemia with mutated NPM1	An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy.	NCIT:C82431|UMLS:C2826177|ONCOTREE:AMLNPM1	mondo.json	AML, NPM1 Mutation|acute myeloid leukemia with mutated NPM1|acute myeloid leukemia with cytoplasmic nucleophosmin|AML, Mutation of the Nucleophosmin Gene|AML, NPM1 gene mutation|NPMc+ AML|AML, Nucleophosmin Gene Mutation|AML with mutated NPM1|acute myeloid leukemia, NPM1 gene mutation	http://purl.obolibrary.org/obo/MONDO_0044923	NCIT:C82431|UMLS:C2826177	
MONDO:0019973	biolink:Disease	persistent placoid maculopathy	Persistent placoid maculopathy is characterised by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision.	Orphanet:97341|UMLS:C4304823|SCTID:719297006	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019973	UMLS:C4304823|http://identifiers.org/snomedct/719297006|Orphanet:97341	ordo_disease
MONDO:0017310	biolink:Disease	Marfan and Marfan-related disorder		UMLS:CN227112|Orphanet:284993	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017310	Orphanet:284993|UMLS:CN227112	ordo_group_of_disorders|disease_grouping
MONDO:0017311	biolink:Disease	obsolete rare disease with thoracic aortic aneurysm and aortic dissection		UMLS:CN202889|Orphanet:285014	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017311	Orphanet:285014|UMLS:CN202889	ordo_group_of_disorders
MONDO:0019972	biolink:Disease	dural sinus malformation		Orphanet:97339	mondo.json	cranial dural arteriovenous malformations|cranial dural arteriovenous fistula	http://purl.obolibrary.org/obo/MONDO_0019972	Orphanet:97339	ordo_morphological_anomaly
MONDO:0017312	biolink:Disease	Perrault syndrome	Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.	UMLS:CN239459|SCTID:93466004|Orphanet:2855|GARD:0002542|UMLS:C0685838|DOID:0050857|OMIMPS:233400	mondo.json	Perrault syndrome|gonadal dysgenesis, XX type, with deafness|XX gonodal dysgenesis-deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0017312	DOID:0050857|UMLS:C0685838|http://identifiers.org/snomedct/93466004|https://omim.org/phenotypicSeries/PS233400|UMLS:CN239459|Orphanet:2855	ordo_disease
MONDO:0019975	biolink:Disease	pellagra	Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management.	MESH:D010383|DOID:8457|ICD9:265.2|MedDRA:10029400|Orphanet:97352|SCTID:418279001|UMLS:C0030783|EFO:0008570|UMLS:C4317126|GARD:0010014	mondo.json	pellagra|niacin-tryptophan deficiency|niacin deficiency	http://purl.obolibrary.org/obo/MONDO_0019975	Orphanet:97352|http://identifiers.org/mesh/D010383|DOID:8457|http://identifiers.org/snomedct/418279001|UMLS:C4317126|UMLS:C0030783	gard_rare|ordo_disease
MONDO:0017313	biolink:Disease	disorder of folate metabolism and transport		UMLS:CN227114|Orphanet:285657	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017313	UMLS:CN227114|Orphanet:285657	ordo_group_of_disorders|disease_grouping
MONDO:0019974	biolink:Disease	obsolete postencephalitic parkinsonism			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019974		
MONDO:0019971	biolink:Disease	melanoma of soft tissue		Orphanet:97338|UMLS:C0206651	mondo.json	clear cell sarcoma of the tendons and aponeuroses	http://purl.obolibrary.org/obo/MONDO_0019971	Orphanet:97338	ordo_disease
MONDO:0019970	biolink:Disease	Sinding-Larsen-Johansson disease	Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterised by tenderness and localized swelling of the patella.	MedDRA:10063585|Orphanet:97337|UMLS:CN206897	mondo.json	Osteochondrosis of patella|aseptic necrosis of patella	http://purl.obolibrary.org/obo/MONDO_0019970	UMLS:CN206897|Orphanet:97337	ordo_disease
MONDO:0005339	biolink:Disease	androgenetic alopecia		ICD9:704.09|DOID:0050801|GARD:0009269|SCTID:87872006|EFO:0004191	mondo.json	male pattern baldness|androgenic alopecia|alopecia androgenetica, male pattern baldness|androgenetic alopecia	http://purl.obolibrary.org/obo/MONDO_0005339	DOID:0050801|http://identifiers.org/snomedct/87872006	
MONDO:0005336	biolink:Disease	myopathy	A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness.	NCIT:C101216|ICD9:359.9|ICD9:728.3|EFO:0004145|DOID:423|ICD9:359.8|SCTID:75047002|SCTID:129565002|UMLS:C0026848	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005336	UMLS:C0026848|NCIT:C101216|http://identifiers.org/snomedct/129565002|DOID:423	
MONDO:0007999	biolink:Disease	holoprosencephaly 2	A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.	UMLS:C1834877|NCIT:C74995|DOID:0110872|OMIM:157170|MESH:C563579	mondo.json	HPE2|holoprosencephaly caused by mutation in SIX3|holoprosencephaly 2|SIX3 holoprosencephaly|holoprosencephaly type 2	http://purl.obolibrary.org/obo/MONDO_0007999	https://omim.org/entry/157170|DOID:0110872|NCIT:C74995|http://identifiers.org/mesh/C563579|UMLS:C1834877	
MONDO:0005335	biolink:Disease	colorectal neoplasm	A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.	MESH:D015179|EFO:0004142|NCIT:C2956|OMIM:114500	mondo.json	colorectal tumor|neoplasm of the large bowel|neoplasm of colorectum|neoplasm of large bowel|large bowel neoplasm|colorectum tumor|large intestinal neoplasm|colorectum neoplasm|large bowel tumor|colorectal neoplasm|tumor of the large bowel|tumor of colorectum|colorectum neoplasm (disease)|tumor of large bowel|large intestine tumor|large intestine neoplasm	http://purl.obolibrary.org/obo/MONDO_0005335	http://identifiers.org/mesh/D015179|NCIT:C2956	
MONDO:0005338	biolink:Disease	open-angle glaucoma	Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage.	MESH:D005902|ICD9:365.13|SCTID:84494001|UMLS:C0017612|ICD9:365.10|SCTID:46168003|ICD9:365.1|NCIT:C34641|DOID:1067|EFO:0004190	mondo.json	glaucoma, primary open angle|POAG|wide-angle glaucoma|glaucoma simplex|pigmentary glaucoma|primary open angle glaucoma|open angle glaucoma	http://purl.obolibrary.org/obo/MONDO_0005338	NCIT:C34641|http://identifiers.org/snomedct/84494001|DOID:1067|UMLS:C0017612|http://identifiers.org/mesh/D005902|http://identifiers.org/snomedct/46168003	
MONDO:0007997	biolink:Disease	microspherophakia with hernia		MESH:C537468|OMIM:157150|UMLS:C1834881|GARD:0009462	mondo.json	microspherophakia with hernia	http://purl.obolibrary.org/obo/MONDO_0007997	https://omim.org/entry/157150|UMLS:C1834881|http://identifiers.org/mesh/C537468	gard_rare
MONDO:0007998	biolink:Disease	microspherophakia-metaphyseal dysplasia syndrome	Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.	OMIM:157151|Orphanet:2551|MESH:C536540|GARD:0005481|UMLS:C1834880	mondo.json	Verloes-Van Maldergem-de Marneffe syndrome|dominantly inherited bone dysplasia with severe eye involvement|Verloes Van Maldergem Marneffe syndrome|microspherophakia-metaphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0007998	http://identifiers.org/mesh/C536540|https://omim.org/entry/157151|UMLS:C1834880|Orphanet:2551	ordo_malformation_syndrome
MONDO:0005337	biolink:Disease	obsolete neuropathy			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005337		
MONDO:0007995	biolink:Disease	microphthalmia, isolated, with cataract 1		MESH:C563582|GARD:0009610|OMIM:156850|UMLS:C1834919	mondo.json	microphthalmia, isolated, with cataract 1|congenital cataract with microphthalmia|MCOPCT1|cataract, congenital, with microphthalmia|microphthalmia with cataract 1	http://purl.obolibrary.org/obo/MONDO_0007995	http://identifiers.org/mesh/C563582|https://omim.org/entry/156850|UMLS:C1834919	
MONDO:0005332	biolink:Disease	obsolete MONDO:0005332			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005332		
MONDO:0020950	biolink:Disease	viral eye infection	Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus.	UMLS:C0015407|SCTID:312132001|MESH:D015828	mondo.json	EYE INFECT VIRAL|Viral Ocular Infections|Viral Eye Infection|VIRAL EYE INFECT|Infection, Viral Ocular|Infections, Viral Eye|Eye Infections, Viral|Ocular Infection, Viral|Infections, Viral Ocular|Viral Ocular Infection|Viral Eye Infections|Infection, Viral Eye|OCULAR INFECT VIRAL|Eye Infection, Viral|Ocular Infections, Viral|viral eye infection|Viral eye infection	http://purl.obolibrary.org/obo/MONDO_0020950	UMLS:C0015407|http://identifiers.org/snomedct/312132001|http://identifiers.org/mesh/D015828	
MONDO:0005331	biolink:Disease	obsolete acrocephalosyndactylia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005331		
MONDO:0007996	biolink:Disease	microphthalmia, isolated, with corectopia		MESH:C563581|OMIM:156900|UMLS:C1834918	mondo.json	microphthalmia with myopia and corectopia|MCOPCR|microphthalmia and corectopia|microphthalmia, isolated, with corectopia	http://purl.obolibrary.org/obo/MONDO_0007996	http://identifiers.org/mesh/C563581|https://omim.org/entry/156900|UMLS:C1834918	
MONDO:0005334	biolink:Disease	hereditary nephritis	A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane.	MESH:D009394|SCTID:399340005|EFO:0004128	mondo.json	nephritis, familial|familial nephritis|hereditary nephritis	http://purl.obolibrary.org/obo/MONDO_0005334	http://identifiers.org/snomedct/399340005|http://identifiers.org/mesh/D009394	
MONDO:0007993	biolink:Disease	microgastria-limb reduction defect syndrome	This syndrome is characterised by the association of microgastria with a limb reduction defect.	MESH:C537554|GARD:0003640|Orphanet:2538|OMIM:156810|UMLS:C1834929	mondo.json	congenital microgastria and limb reduction defects|microgastria-limb reduction defects association|microgastria limb reduction defect|MLRD	http://purl.obolibrary.org/obo/MONDO_0007993	https://omim.org/entry/156810|UMLS:C1834929|Orphanet:2538|http://identifiers.org/mesh/C537554	ordo_malformation_syndrome
MONDO:0005333	biolink:Disease	hyperthyroxinemia	Abnormally elevated thyroxine level in the blood.	MESH:D006981|UMLS:C0020551|DOID:2855|HGNC:399|EFO:0004127	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005333	http://identifiers.org/mesh/D006981|DOID:2855|UMLS:C0020551	
MONDO:0007994	biolink:Disease	micromelic bone dysplasia with cloverleaf skull		OMIM:156830|MESH:C536429	mondo.json	micromelic bone dysplasia with cloverleaf skull	http://purl.obolibrary.org/obo/MONDO_0007994	https://omim.org/entry/156830|http://identifiers.org/mesh/C536429	
MONDO:0007991	biolink:Disease	microcephaly-deafness-intellectual disability syndrome	Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.	GARD:0000230|UMLS:C0796062|Orphanet:2533|OMIM:156620|SCTID:716112005|MESH:C537326	mondo.json	microcephaly-deafness syndrome|microcephaly deafness syndrome|syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies|Kawashima Tsuji syndrome|syndrome of microcephaly, deafness/malformed ears, intellectual disability and peculiar facies|Kawashima-Tsuji syndrome	http://purl.obolibrary.org/obo/MONDO_0007991	https://omim.org/entry/156620|UMLS:C0796062|Orphanet:2533|http://identifiers.org/mesh/C537326|http://identifiers.org/snomedct/716112005	ordo_malformation_syndrome
MONDO:0007992	biolink:Disease	microcornea-glaucoma-absent frontal sinuses syndrome	Microcornea-glaucoma-absent frontal sinuses syndrome is characterised by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant.	MESH:C537552|OMIM:156700|Orphanet:2536|GARD:0003637|UMLS:C1834935	mondo.json	microcornea, glaucoma, and absent frontal sinuses|hereditary microcornea, glaucoma, and absent frontal sinuses	http://purl.obolibrary.org/obo/MONDO_0007992	https://omim.org/entry/156700|UMLS:C1834935|Orphanet:2536|http://identifiers.org/mesh/C537552	ordo_malformation_syndrome
MONDO:0005330	biolink:Disease	obsolete angiosarcoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005330		
MONDO:0007990	biolink:Disease	multiple benign circumferential skin creases on limbs		MESH:C537575|Orphanet:2505|UMLS:C0473586|GARD:0003589	mondo.json	circumferential skin creases, Kunze type|skin creases, multiple benign ring-shaped, of limbs|Michelin tire baby syndrome|CCSF|Kunze Riehm syndrome|congenital circumferential skin folds|Kunze-Riehm syndrome|CSCSC	http://purl.obolibrary.org/obo/MONDO_0007990	UMLS:C0473586|Orphanet:2505|http://identifiers.org/mesh/C537575	ordo_disease
UBERON:0002195	biolink:AnatomicalEntity	trabecula of lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002195		
MONDO:0044937	biolink:Disease	rectal carcinoma	A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.	NCIT:C9382	mondo.json	rectum carcinoma|rectal cancer|carcinoma of the rectum|carcinoma of rectum|rectal carcinoma|cancer of rectum|cancer of the rectum	http://purl.obolibrary.org/obo/MONDO_0044937	NCIT:C9382	
MONDO:0017307	biolink:Disease	disorder of tyrosine metabolism		SCTID:37200009|Orphanet:284818|UMLS:CN202881|ICD9:270.2	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017307	UMLS:CN202881|Orphanet:284818|http://identifiers.org/snomedct/37200009	disease_grouping|ordo_group_of_disorders
MONDO:0017308	biolink:Disease	obsolete Marfan syndrome type 2	OBSOLETE. Hypothesized form of Marfan; dubious	MESH:C535911|UMLS:C2698016|NCIT:C75007|UMLS:C2931058|Orphanet:284973	mondo.json	Marfan syndrome type II|MFS2	http://purl.obolibrary.org/obo/MONDO_0017308	NCIT:C75007|Orphanet:284973|UMLS:C2698016|http://identifiers.org/mesh/C535911|UMLS:C2931058	speculative|ordo_clinical_subtype
MONDO:0020947	biolink:Disease	parasitic eye infection	Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites.	UMLS:C0015406|MESH:D015822|ICD9:136.9|SCTID:312418006	mondo.json	Parasitic Ocular Infections|PARASITIC EYE INFECT|Parasitic Eye Infection|EYE INFECT PARASITIC|Infection, Parasitic Ocular|parasitic eye infection|Parasitic eye infection|Infections, Parasitic Ocular|Parasitic Eye Infections|Parasitic Ocular Infection|Eye Infections, Parasitic|Infections, Parasitic Eye|Ocular Infection, Parasitic|Infection, Parasitic Eye|OCULAR INFECT PARASITIC|Eye Infection, Parasitic|Ocular Infections, Parasitic	http://purl.obolibrary.org/obo/MONDO_0020947	http://identifiers.org/snomedct/312418006|UMLS:C0015406|http://identifiers.org/mesh/D015822	
UBERON:0002194	biolink:AnatomicalEntity	capsule of lymph node			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002194		
MONDO:0019969	biolink:Disease	panner disease	Panner's disease is an osteochondrosis of the capitellum of the humerus, characterised by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practising sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum, occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good.	Orphanet:97336|UMLS:CN206896	mondo.json	Osteochondrosis of the capital humerus|aseptic necrosis of the capital humerus	http://purl.obolibrary.org/obo/MONDO_0019969	Orphanet:97336|UMLS:CN206896	ordo_disease
MONDO:0017309	biolink:Disease	neonatal Marfan syndrome	Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.	UMLS:CN202885|UMLS:CN536247|SCTID:763839005|Orphanet:284979	mondo.json	neonatal MFS	http://purl.obolibrary.org/obo/MONDO_0017309	UMLS:CN202885|Orphanet:284979|UMLS:CN536247|http://identifiers.org/snomedct/763839005	ordo_disease
UBERON:0002196	biolink:AnatomicalEntity	adenohypophysis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002196		
MONDO:0020944	biolink:Disease	fungal infection of eye	Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses.	ICD9:117.9|UMLS:C0015405|MESH:D015821|SCTID:31194008	mondo.json	Ocular Infections, Fungal|Eye Infection, Fungal|Infection, Fungal Eye|OCULAR INFECT FUNGAL|Mycotic Infections, Ocular|ocular mycosis|Infection, Ocular Mycotic|Mycotic Infection, Ocular|Mycoses, Ocular|Infections, Fungal Eye|Fungal Eye Infection|Fungal Ocular Infections|Ocular Infection, Fungal|Eye Infections, Fungal|Infections, Ocular Mycotic|Mycosis, Ocular|Infections, Fungal Ocular|Ocular Mycotic Infection|Ocular Mycoses|Oculomycoses|Fungal eye infection|Infection, Fungal Ocular|FUNGAL EYE INFECT|Ocular Mycosis|Oculomycosis|EYE INFECT FUNGAL|fungal eye infection|fungal infection of eye|Fungal infection of eye|Ocular mycosis|Ocular Mycotic Infections|MYCOTIC INFECT OCULAR|Fungal Ocular Infection|Fungal Eye Infections	http://purl.obolibrary.org/obo/MONDO_0020944	http://identifiers.org/snomedct/31194008|UMLS:C0015405|http://identifiers.org/mesh/D015821	
MONDO:0017303	biolink:Disease	qualitative or quantitative defects of tropomyosin		Orphanet:284790	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017303	Orphanet:284790	disease_grouping|ordo_group_of_disorders
MONDO:0019966	biolink:Disease	obsolete thoracic outlet syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019966		
UBERON:0002191	biolink:AnatomicalEntity	subiculum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002191		
MONDO:0019965	biolink:Disease	obsolete rare benign ovarian tumor	OBSOLETE. Any of the forms of ovarian benign neoplasm that have a rare incidence.	Orphanet:97293	mondo.json	rare ovarian benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0019965	Orphanet:97293	disease_grouping|ordo_group_of_disorders|obsoletion_candidate
MONDO:0017304	biolink:Disease	ocular albinism	Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.	MESH:D016117|DOID:0050633|MedDRA:10065276|HP:0001107|Orphanet:284804|ICD9:270.2|SCTID:26399002	mondo.json	ocular albinism (disease)|XLOA|ocular albinism	http://purl.obolibrary.org/obo/MONDO_0017304	DOID:0050633|Orphanet:284804|http://identifiers.org/mesh/D016117|http://identifiers.org/snomedct/26399002	disease_grouping|ordo_group_of_disorders
UBERON:0002190	biolink:AnatomicalEntity	subcutaneous adipose tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002190		
MONDO:0017305	biolink:Disease	syndromic oculocutaneous albinism	A oculocutaneous albinism that is part of a larger syndrome.	UMLS:CN227111|ICD10CM:E70.3|Orphanet:284811	mondo.json	syndrome associated with oculocutaneous albinism|syndromic oculocutaneous albinism	http://purl.obolibrary.org/obo/MONDO_0017305	Orphanet:284811|UMLS:CN227111	disease_grouping|ordo_group_of_disorders
UBERON:0002193	biolink:AnatomicalEntity	hemolymphoid system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002193		
MONDO:0019968	biolink:Disease	obsolete Osgood-Schlatter disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019968		
MONDO:0017306	biolink:Disease	disorder of phenylalanine metabolism		SCTID:12957008|ICD9:270.8|UMLS:C0268461|Orphanet:284814	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017306	Orphanet:284814|http://identifiers.org/snomedct/12957008|UMLS:C0268461	disease_grouping|ordo_group_of_disorders
MONDO:0019967	biolink:Disease	Kienbock disease	Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function.	GARD:0009690|MedDRA:10064242|Orphanet:97332	mondo.json	osteochondritis of the lunate bone|aseptic necrosis of the lunate bone|Lunatomalacia|bilateral Kienbock's disease|Kienbock's disease|Osteochondrosis of the lunate bone	http://purl.obolibrary.org/obo/MONDO_0019967	Orphanet:97332	ordo_disease
MONDO:0019962	biolink:Disease	thyroid lymphoma	A lymphoma primarily involving the thyroid gland.	NCIT:C5265|Orphanet:97285|DOID:10011|UMLS:C1336753	mondo.json	thyroid gland lymphoma|thyroid lymphoma|lymphoma of the thyroid gland|lymphoma of thyroid gland|primary thyroid gland lymphoma|lymphoma of the thyroid|lymphoma of thyroid	http://purl.obolibrary.org/obo/MONDO_0019962	Orphanet:97285|DOID:10011|NCIT:C5265|UMLS:C1336753	ordo_disease
MONDO:0017300	biolink:Disease	congenital pericardium anomaly	Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst).	SCTID:93018000|ICD9:746.89|Orphanet:2846	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017300	Orphanet:2846|http://identifiers.org/snomedct/93018000	ordo_group_of_disorders|disease_grouping
MONDO:0019961	biolink:Disease	obsolete somatostatinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019961		
MONDO:0017301	biolink:Disease	pericardial and diaphragmatic defect	Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect.	Orphanet:2847	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017301	Orphanet:2847	ordo_malformation_syndrome
MONDO:0019964	biolink:Disease	thymic neuroendocrine tumor	Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid sydrome, respectively.	UMLS:CN206887|Orphanet:97289|ONCOTREE:TNET	mondo.json	thymus neuroendocrine neoplasm|thymus neuroendocrine tumor, well differentiated, low or intermediate grade|thymus NET|neuroendocrine neoplasm of thymus|thymus neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0019964	Orphanet:97289|UMLS:CN206887	ordo_disease
MONDO:0017302	biolink:Disease	qualitative or quantitative defects of troponin		Orphanet:284786	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017302	Orphanet:284786	disease_grouping|ordo_group_of_disorders
MONDO:0019963	biolink:Disease	bronchial endocrine tumor	A neuroendocrine neoplasm that involves the bronchus.	UMLS:CN206886|Orphanet:97287	mondo.json	bronchial neuroendocrine tumor|bronchial NET|bronchus neuroendocrine neoplasm|bronchus neuroendocrine tumor|bronchus NET|bronchus neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of bronchus	http://purl.obolibrary.org/obo/MONDO_0019963	Orphanet:97287|UMLS:CN206886	ordo_disease
MONDO:0030300	biolink:Disease	cardiomyopathy, dilated, 2D		OMIM:619371	mondo.json	cardiomyopathy, dilated, 2D|CMD2D	http://purl.obolibrary.org/obo/MONDO_0030300	https://omim.org/entry/619371	
UBERON:0002199	biolink:AnatomicalEntity	integument			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002199		
UBERON:0002198	biolink:AnatomicalEntity	neurohypophysis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002198		
MONDO:0019960	biolink:Disease	VIPoma	VIPoma is an extremely rare type of pancreatic neuroendocrine tumor that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome).	GARD:0003787|SCTID:253005002|ICD9:239.7|MedDRA:10047430|DOID:5574|NCIT:C26749|MESH:D003969|UMLS:C0011993|Orphanet:97282|EFO:1000622|GARD:0005493|ICDO:8155/1	mondo.json	malignant vasoactive intestinal peptide-secreting tumor|VIP- secreting tumor|VIP-producing NET|WDHA syndrome|vasoactive intestinal peptide secreting neoplasm|vasoactive intestinal peptide-producing tumor|vasoactive intestinal peptide producing tumor|VIPoma|Verner-Morrison syndrome|VIP- secreting neoplasm|pancreatic cholera|VIP-secreting tumor|VIP-producing neuroendocrine tumor|VIPoma, malignant|watery diarrhea-hypokalemia-achlorhydria syndrome|Diarrheogenic islet cell tumor|pancreatic vipoma|vasoactive intestinal peptide producing neoplasm|watery diarrhea, hypokalemia, and achlorhydria syndrome|vasoactive intestinal peptide-secreting tumor|VIP producing neoplasm|vasoactive intestinal peptide (VIP) tumor	http://purl.obolibrary.org/obo/MONDO_0019960	UMLS:C0011993|NCIT:C26749|http://identifiers.org/snomedct/253005002|http://identifiers.org/mesh/D003969|DOID:5574|Orphanet:97282	ordo_disease
MONDO:0030307	biolink:Disease	spermatogenic failure 55		OMIM:619380	mondo.json	SPGF55|spermatogenic failure 55	http://purl.obolibrary.org/obo/MONDO_0030307	https://omim.org/entry/619380	
MONDO:0005307	biolink:Disease	contracture	Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint.	MESH:D003286|EFO:0003899	mondo.json	muscle contracture	http://purl.obolibrary.org/obo/MONDO_0005307	http://identifiers.org/mesh/D003286	
PATO:0000947	biolink:NamedThing	elliptic	A spheroid quality inhering in a bearer by virtue of the bearer's being oval with two axes of symmetry, as produced by a conical section.		mondo.json	ellipsoid|ellipse-shaped|ovoid|oval|elliptical	http://purl.obolibrary.org/obo/PATO_0000947		
MONDO:0005306	biolink:Disease	ankylosing spondylitis	An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine.	NCIT:C84564|Orphanet:825|EFO:0003898|DOID:7147|ICD10CM:M45|MESH:D013167|ICD9:720.0|SCTID:9631008	mondo.json	ankylosing spondylarthritis|Bekhterev syndrome|Bekhterev's disease|Marie-Strumpell disease	http://purl.obolibrary.org/obo/MONDO_0005306	DOID:7147|http://identifiers.org/snomedct/9631008|http://identifiers.org/mesh/D013167|Orphanet:825|http://purl.bioontology.org/ontology/ICD10CM/M45|NCIT:C84564	
MONDO:0030309	biolink:Disease	Leber hereditary optic neuropathy, autosomal recessive		OMIM:619382	mondo.json	mitochondrial complex 1 deficiency, nuclear type 38|Leber hereditary optic neuropathy, autosomal recessive|LHONAR	http://purl.obolibrary.org/obo/MONDO_0030309	https://omim.org/entry/619382	
MONDO:0005309	biolink:Disease	spinal fracture	Traumatic or pathological injury to the spine in which the continuity of a vertebral bone is broken. Symptoms include back pain and difficulty bending and twisting.	EFO:0003902|SCTID:50448004|MESH:D016103	mondo.json	bone fracture of vertebral column|vertebral column bone fracture	http://purl.obolibrary.org/obo/MONDO_0005309	http://identifiers.org/snomedct/50448004|http://identifiers.org/mesh/D016103	
MONDO:0007968	biolink:Disease	melanoma tumor antigen Gp90		OMIM:155770	mondo.json	melanoma tumor antigen Gp90|Class 1 unique tumor antigen of melanoma	http://purl.obolibrary.org/obo/MONDO_0007968	https://omim.org/entry/155770	
MONDO:0007969	biolink:Disease	Melkersson-Rosenthal syndrome	The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected.	UMLS:C0025235|EFO:1001039|GARD:0007010|OMIM:155900|Orphanet:2483|DOID:1761|NCIT:C84886|MedDRA:10027166|MESH:D008556	mondo.json	cheilitis granulomatosa of Mescher-Melkersson-Rosenthal|Melkersson-Rosenthal syndrome|Melkersson's syndrome|MRS|Melkersson syndrome|cheilitis Granulomatosa|Mros	http://purl.obolibrary.org/obo/MONDO_0007969	https://omim.org/entry/155900|Orphanet:2483|UMLS:C0025235|http://identifiers.org/mesh/D008556|DOID:1761|NCIT:C84886	ordo_malformation_syndrome|gard_rare
MONDO:0030308	biolink:Disease	immunodeficiency 82 with systemic inflammation	A complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. One of the more common features is inflammation of the stomach and bowel. Most patients develop symptoms in infancy or early childhood; the severity is variable. There may be accompanying fever, elevated white blood cell count, decreased B cells, hypogammaglobulinemia, increased C-reactive protein (CRP), and a generalized hyperinflammatory state. Immunologic workup shows variable B- and T-cell abnormalities such as skewed subgroups. Patients have a propensity for the development of lymphoma, usually in adulthood. At the molecular level, the disorder results from a gain-of-function mutation that leads to constitutive and enhanced activation of the intracellular inflammatory signaling pathway.	OMIM:619381	mondo.json	immunodeficiency with systemic inflammation|IMD82|immunodeficiency 82 with systemic inflammation	http://purl.obolibrary.org/obo/MONDO_0030308	https://omim.org/entry/619381	
MONDO:0005308	biolink:Disease	ciliopathy	A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.	DOID:0060340|EFO:0003900|UMLS:CN580792|GTR:AN0966173|Orphanet:363250	mondo.json	ciliopathies|ciliopathy	http://purl.obolibrary.org/obo/MONDO_0005308	UMLS:CN580792|Orphanet:363250|DOID:0060340	ordo_group_of_disorders|disease_grouping
MONDO:0007966	biolink:Disease	susceptibility to uveal melanoma		OMIM:155720	mondo.json		http://purl.obolibrary.org/obo/MONDO_0007966		predisposition
MONDO:0005303	biolink:Disease	drug dependence	Drug dependence - replaced the term "drug addiction" and is defined as a state, psychic and sometimes also physical, resulting from the interaction between a living organism and a drug, characterized by behavioral and other responses that always include a compulsion to take the drug on a continuous or periodic basis in order to experience its psychic effects, and sometimes to avoid the discomfort of its absence. Tolerance may or may not be present. A person may be dependent on more than one drug.	ICD9:304.6|SCTID:191816009|NCIT:C3894|ICD9:304|ICD9:304.90|DOID:9974|EFO:0003890|ICD9:304.60	mondo.json	chemical dependence	http://purl.obolibrary.org/obo/MONDO_0005303	NCIT:C3894|http://identifiers.org/snomedct/191816009|DOID:9974	
MONDO:0007967	biolink:Disease	melanoma and neural system tumor syndrome	Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma).	UMLS:C1835042|MESH:C536149|DOID:0111511|GARD:0008468|OMIM:155755|Orphanet:252206|SCTID:717968005	mondo.json	melanoma-astrocytoma syndrome|melanoma and neural system tumor syndrome|melanoma astrocytoma syndrome	http://purl.obolibrary.org/obo/MONDO_0007967	http://identifiers.org/snomedct/717968005|http://identifiers.org/mesh/C536149|DOID:0111511|Orphanet:252206|UMLS:C1835042|https://omim.org/entry/155755	ordo_disease
MONDO:0005302	biolink:Disease	attention deficit hyperactivity disorder, inattentive type	A mental disorder characterized by inattention, easy distraction, careless mistakes and avoidance of tasks that require sustained mental focus. These behaviors can lead to maladaptive consequences in the affected individual's life.	ICD9:314.01|MESH:D001289|ICD9:314.8|EFO:0003888|DOID:1094|SCTID:406506008|ICD9:314.9|NCIT:C35092	mondo.json	attention deficit hyperactivity disorder, inattentive/distractible type|attention deficit disorder|ADD|hyperkinetic disorder|attention deficit hyperactivity disorder, predominantly inattentive type|ADHD	http://purl.obolibrary.org/obo/MONDO_0005302	NCIT:C35092|http://identifiers.org/mesh/D001289|DOID:1094|http://identifiers.org/snomedct/406506008	
MONDO:0030302	biolink:Disease	immunodeficiency 81	A human immunodeficiency characterized by early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation, caused by a variation in the SLP76 gene.	OMIM:619374	mondo.json	T-B+ severe combined immunodeficiency due to SLP76 deficiency|IMD81|immunodeficiency 81	http://purl.obolibrary.org/obo/MONDO_0030302	https://omim.org/entry/619374	
MONDO:0007964	biolink:Disease	melanoma, cutaneous malignant, susceptibility to, 2	Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)	OMIM:155601|MESH:D004416|NCIT:C7584|EFO:0004199|DOID:10041	mondo.json	melanoma, cutaneous malignant, susceptibility to, type 2|dysplastic nevus syndrome|melanoma, cutaneous malignant, susceptibility to, 2|CMM2|susceptibility to cutaneous malignant melanoma 2|familial dysplastic nevi|B-K Mole syndrome|Atypical Mole syndrome|melanoma, cutaneous malignant, 2	http://purl.obolibrary.org/obo/MONDO_0007964	NCIT:C7584|DOID:10041|http://identifiers.org/mesh/D004416|https://omim.org/entry/155601	predisposition
MONDO:0005305	biolink:Disease	obsolete epistaxis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005305		
MONDO:0005304	biolink:Disease	biliary tract neoplasm	A neoplasm that involves the biliary tract.	DOID:0050625|ONCOTREE:BILIARYTRACT|EFO:0003891|HP:0100574|SCTID:126853008	mondo.json	tumor of biliary tree|biliary tree neoplasm|neoplasm of biliary tree|biliary tree tumor|neoplasm of extrahepatic bile ducts|biliary tract neoplasm|biliary tract neoplasm (disease)|biliary tree neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0005304	DOID:0050625|http://identifiers.org/snomedct/126853008	
MONDO:0007965	biolink:Disease	melanoma, malignant familial intraocular		MESH:C563596|OMIM:155700|UMLS:C1835043	mondo.json	melanoma, malignant familial intraocular	http://purl.obolibrary.org/obo/MONDO_0007965	http://identifiers.org/mesh/C563596|UMLS:C1835043|https://omim.org/entry/155700	
MONDO:0007962	biolink:Disease	megalodactyly	A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances.	SCTID:48449000|OMIM:155500|MESH:C562546|NCIT:C48900	mondo.json	macrodactyly|macrodactyly, somatic, (3), cerebral cavernous malformations 4, somatic|Megalodactyly	http://purl.obolibrary.org/obo/MONDO_0007962	NCIT:C48900|http://identifiers.org/snomedct/48449000|http://identifiers.org/mesh/C562546|https://omim.org/entry/155500	
MONDO:0007963	biolink:Disease	melanoma, cutaneous malignant, susceptibility to, 1		UMLS:C0151779|SCTID:254819008|OMIM:155600	mondo.json	melanoma, cutaneous malignant, 1|melanoma, cutaneous malignant|melanoma, cutaneous malignant, susceptibility to, 1|dysplastic Nevus syndrome, hereditary|CMM1|familial atypical Mole-malignant melanoma syndrome|melanoma, malignant|B-K Mole syndrome|melanoma, malignant, somatic|melanoma, familial	http://purl.obolibrary.org/obo/MONDO_0007963	https://omim.org/entry/155600|http://identifiers.org/snomedct/254819008	predisposition
MONDO:0005301	biolink:Disease	multiple sclerosis	A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers.	MESH:D009103|UMLS:C0026769|ICD10CM:G35|Orphanet:802|SCTID:24700007|NCIT:C3243|ICD9:340|EFO:0003885|DOID:2377	mondo.json	generalized multiple sclerosis|insular sclerosis	http://purl.obolibrary.org/obo/MONDO_0005301	http://identifiers.org/mesh/D009103|UMLS:C0026769|Orphanet:802|http://purl.bioontology.org/ontology/ICD10CM/G35|DOID:2377|http://identifiers.org/snomedct/24700007|NCIT:C3243	
MONDO:0007960	biolink:Disease	obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007960		
MONDO:0005300	biolink:Disease	chronic kidney disease	Impairment of the renal function secondary to chronic kidney damage persisting for three or more months.	SCTID:709044004|UMLS:C0022661|ICD10CM:N18.9|NCIT:C80078|EFO:0003884|DOID:784|MESH:D007676|ICD9:585.6|ICD9:585	mondo.json	chronic renal failure syndrome|chronic renal disease|chronic renal insufficiency|kidney disease, chronic|CKD - chronic kidney disease|renal failure - chronic|chronic kidney disease|CKD	http://purl.obolibrary.org/obo/MONDO_0005300	NCIT:C80078|DOID:784|http://identifiers.org/snomedct/709044004|http://identifiers.org/mesh/D007676|UMLS:C0022661|http://purl.bioontology.org/ontology/ICD10CM/N18.9	
MONDO:0007961	biolink:Disease	megalencephaly, autosomal dominant		UMLS:C3805727|OMIM:155350	mondo.json	megalencephaly, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007961	https://omim.org/entry/155350|UMLS:C3805727	
MONDO:0019959	biolink:Disease	glucagonoma	Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms.	SCTID:16424000|Orphanet:97280|UMLS:C0017689|EFO:1000441|MedDRA:10018404|GARD:0002496|NCIT:C95597|MESH:D005935	mondo.json	pancreatic glucagonoma|glucagonoma syndrome|glucagonoma	http://purl.obolibrary.org/obo/MONDO_0019959	NCIT:C95597|Orphanet:97280|http://identifiers.org/snomedct/16424000|UMLS:C0017689|http://identifiers.org/mesh/D005935	gard_rare|ordo_disease
MONDO:0020937	biolink:Disease	contractures, pterygia, and variable skeletal fusions syndrome		OMIMPS:178110	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020937	https://omim.org/phenotypicSeries/PS178110	
UBERON:0002184	biolink:AnatomicalEntity	segmental bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002184		
UBERON:0002183	biolink:AnatomicalEntity	lobar bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002183		
MONDO:0019958	biolink:Disease	obsolete insulinoma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0019958		
UBERON:0002186	biolink:AnatomicalEntity	bronchiole			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002186		
UBERON:0002185	biolink:AnatomicalEntity	bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002185		
MONDO:0019955	biolink:Disease	GRFoma	6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1).	UMLS:CN206877|Orphanet:97261	mondo.json	GRF tumor|Growth hormone releasing factor tumor	http://purl.obolibrary.org/obo/MONDO_0019955	Orphanet:97261|UMLS:CN206877	ordo_disease
UBERON:0002180	biolink:AnatomicalEntity	ventral funiculus of spinal cord			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002180		
MONDO:0019954	biolink:Disease	pancreatic neuroendocrine tumor	Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma).	EFO:1000045|GARD:0013034|Orphanet:97253|NCIT:C27720|ICDO:8150/1|ONCOTREE:PANET	mondo.json	well differentiated pancreatic endocrine neoplasm|neuroendocrine tumor of pancreas|islet cell tumors of the pancreas|well-differentiated NEN of pancreas|well-differentiated pancreatic NEN|pancreatic endocrine tumor|pancreatic NET|well-differentiated pancreatic neuroendocrine neoplasm|well-differentiated neuroendocrine neoplasm of pancreas|PANET|islet cell tumor|pancreatic neuroendocrine tumor|well differentiated pancreatic endocrine tumor|islet cell tumors - pancreas	http://purl.obolibrary.org/obo/MONDO_0019954	Orphanet:97253|NCIT:C27720	disease_grouping|ordo_group_of_disorders
MONDO:0019957	biolink:Disease	PPoma	PPoma is a type of pancreatic endocrine tumor that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1).	UMLS:CN206879|NCIT:C67453|UMLS:C1882278|Orphanet:97278|SCTID:255039001|UMLS:C0346407|ICD9:239.89|ICDO:8152/1	mondo.json	pancreatic polypeptide tumor|pancreatic polypeptidoma|pancreatic polypeptide neoplasm	http://purl.obolibrary.org/obo/MONDO_0019957	Orphanet:97278|UMLS:C1882278|http://identifiers.org/snomedct/255039001|UMLS:CN206879|NCIT:C67453|UMLS:C0346407	ordo_disease
UBERON:0002182	biolink:AnatomicalEntity	main bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002182		
MONDO:0019956	biolink:Disease	encephalitis	An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes.	UMLS:C0014038|ICD9:323.0|ICD10CM:A85|NCIT:C26760|SCTID:45170000|MESH:D004660|ICD9:323.9|DOID:9588|ICD9:323.8|MedDRA:10014581|Orphanet:97275	mondo.json	brain inflammation	http://purl.obolibrary.org/obo/MONDO_0019956	http://purl.bioontology.org/ontology/ICD10CM/A85|http://identifiers.org/snomedct/45170000|Orphanet:97275|DOID:9588|NCIT:C26760|http://identifiers.org/mesh/D004660|UMLS:C0014038	disease_grouping|ordo_group_of_disorders
MONDO:0019951	biolink:Disease	rigid spine syndrome	Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.	GARD:0004723|Orphanet:97244|MESH:C535683	mondo.json	desmin-related myopathies with Mallory bodies|muscular dystrophy, congenital, merosin positive with early spine rigidity|rigid spine muscular dystrophy-1|rigid spine congenital muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0019951	Orphanet:97244|http://identifiers.org/mesh/C535683	ordo_disease
MONDO:0019950	biolink:Disease	congenital muscular dystrophy	A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.	Orphanet:97242|GARD:0009138|ICD9:359.0|EFO:0006819|SCTID:240059009|DOID:0050557|UMLS:C0699743	mondo.json	congenital MD|MDC|CMD	http://purl.obolibrary.org/obo/MONDO_0019950	Orphanet:97242|UMLS:C0699743|DOID:0050557|http://identifiers.org/snomedct/240059009	ordo_group_of_disorders|disease_grouping
MONDO:0030312	biolink:Disease	spinocerebellar ataxia, autosomal recessive 29		OMIM:619389	mondo.json	Barakat-Van Ham-Kaya syndrome|SCAR29|neurodevelopmental disorder with hypotonia and cerebellar ataxia|spinocerebellar ataxia, autosomal recessive 29	http://purl.obolibrary.org/obo/MONDO_0030312	https://omim.org/entry/619389	
MONDO:0019953	biolink:Disease	mega-cisterna magna		Orphanet:97252	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019953	Orphanet:97252	ordo_morphological_anomaly
MONDO:0019952	biolink:Disease	congenital myopathy		DOID:0080100|GARD:0005898|Orphanet:97245|MedDRA:10062547	mondo.json	congenital myopathy|myopathy congenital|batten Turner congenital myopathy	http://purl.obolibrary.org/obo/MONDO_0019952	Orphanet:97245|DOID:0080100	disease_grouping|ordo_group_of_disorders
MONDO:0030311	biolink:Disease	combined oxidative phosphorylation deficiency 52		OMIM:619386	mondo.json	COXPD52|combined oxidative phosphorylation deficiency 52	http://purl.obolibrary.org/obo/MONDO_0030311	https://omim.org/entry/619386	
UBERON:0002188	biolink:AnatomicalEntity	respiratory bronchiole			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002188		
UBERON:0002187	biolink:AnatomicalEntity	terminal bronchiole			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002187		
MONDO:0005318	biolink:Disease	canker sore	A type of stomatitis that is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. It is a recurrent disease of the oral mucosa of unknown etiology.	SCTID:427617000|NCIT:C62546|MESH:D013281|HP:0032154|EFO:0003938	mondo.json	aphthous stomatitis|aphthous ulcer|canker sore	http://purl.obolibrary.org/obo/MONDO_0005318	http://identifiers.org/snomedct/427617000|http://identifiers.org/mesh/D013281|NCIT:C62546	
MONDO:0030318	biolink:Disease	spinocerebellar ataxia, autosomal recessive 30		OMIM:619405	mondo.json	spinocerebellar ataxia, autosomal recessive 30|SCAR30	http://purl.obolibrary.org/obo/MONDO_0030318	https://omim.org/entry/619405	
MONDO:0030317	biolink:Disease	cardiomyopathy, familial hypertrophic, 28		OMIM:619402	mondo.json	cardiomyopathy, familial hypertrophic, 28|CMH28	http://purl.obolibrary.org/obo/MONDO_0030317	https://omim.org/entry/619402	
PATO:0000957	biolink:NamedThing	opacity	An optical quality which obtains by virtue of the ability of the bearer to absorb visible light.		mondo.json		http://purl.obolibrary.org/obo/PATO_0000957		
MONDO:0005317	biolink:Disease	obsolete fatty liver			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005317		
MONDO:0007979	biolink:Disease	metachondromatosis	Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.	SCTID:205481009|OMIM:156250|MESH:C562938|Orphanet:2499|DOID:0111512|ICD9:756.59|UMLS:C0410530|GARD:0003560	mondo.json	metachondromatosis|METACHONDROMATOSIS|METCDS	http://purl.obolibrary.org/obo/MONDO_0007979	Orphanet:2499|UMLS:C0410530|http://identifiers.org/snomedct/205481009|DOID:0111512|https://omim.org/entry/156250|http://identifiers.org/mesh/C562938	ordo_malformation_syndrome|gard_rare
MONDO:0005319	biolink:Disease	humerus fracture	A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken.	EFO:0003943|SCTID:66308002|MESH:D006810	mondo.json	humeral fracture|fractures, humeral|fracture, humeral	http://purl.obolibrary.org/obo/MONDO_0005319	http://identifiers.org/snomedct/66308002|http://identifiers.org/mesh/D006810	other_hierarchy
MONDO:0007977	biolink:Disease	mesomelic dysplasia, Kantaputra type	Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.	MESH:C535547|OMIM:156232|Orphanet:1836|SCTID:719397009|GARD:0003074	mondo.json	mesomelic dysplasia, Thai type|mesomelic dysplasia Kantaputra type|MMDK|mesomelic dysplasia Thai type|mesomelic dysplasia with ankle carpal and tarsal synostosis|mesomelic dysplasia with ankle, carpal, and tarsal synostosis|Kantaputra mesomelic dysplasia|MDK|Mdk|mesomelic dysplasia, Kantaputra type	http://purl.obolibrary.org/obo/MONDO_0007977	Orphanet:1836|http://identifiers.org/mesh/C535547|https://omim.org/entry/156232|http://identifiers.org/snomedct/719397009	ordo_malformation_syndrome|gard_rare
MONDO:0005314	biolink:Disease	relapsing-remitting multiple sclerosis	The most common clinical variant of multiple sclerosis, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see optic neuritis), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)	MESH:D020529|EFO:0003929|DOID:2378|UMLS:C0751967|SCTID:426373005	mondo.json	Relapsing-remitting MS|RRMS	http://purl.obolibrary.org/obo/MONDO_0005314	http://identifiers.org/snomedct/426373005|UMLS:C0751967|DOID:2378|http://identifiers.org/mesh/D020529	
MONDO:0030314	biolink:Disease	inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive		OMIM:619398	mondo.json	inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive|inflammatory bowel disease, early-onset, autosomal recessive|inflammatory bowel disease (infantile ulcerative colitis) 31|IBD31	http://purl.obolibrary.org/obo/MONDO_0030314	https://omim.org/entry/619398	
MONDO:0030313	biolink:Disease	encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10		OMIM:619396	mondo.json	IIAE10|herpes simplex encephalitis, susceptibility to, 7|encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10	http://purl.obolibrary.org/obo/MONDO_0030313	https://omim.org/entry/619396	
MONDO:0005313	biolink:Disease	necrotizing enterocolitis	Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death.	NCIT:C84915|UMLS:C4082937|EFO:0003928|SCTID:2707005|MESH:D020345|UMLS:C0520459|ICD9:777.5|Orphanet:391673	mondo.json	NEC|necrotizing enterocolitis|necrotizing enterocolitis in fetus or newborn	http://purl.obolibrary.org/obo/MONDO_0005313	http://identifiers.org/snomedct/2707005|Orphanet:391673|UMLS:C0520459|http://identifiers.org/mesh/D020345|UMLS:C4082937|NCIT:C84915	
MONDO:0007978	biolink:Disease	obsolete malignant mesothelioma			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007978		
MONDO:0005316	biolink:Disease	bacterial vaginosis	Infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection.	DOID:3385|EFO:0003932|UMLS:C0085166|NCIT:C116973|SCTID:419760006|MESH:D016585	mondo.json	BV	http://purl.obolibrary.org/obo/MONDO_0005316	UMLS:C0085166|NCIT:C116973|DOID:3385|http://identifiers.org/snomedct/419760006|http://identifiers.org/mesh/D016585	
MONDO:0030316	biolink:Disease	lymphatic malformation 11		OMIM:619401	mondo.json	lymphatic malformation 11|LMPHM11	http://purl.obolibrary.org/obo/MONDO_0030316	https://omim.org/entry/619401	
MONDO:0007975	biolink:Disease	meralgia paraesthetica, familial		OMIM:156220|MESH:C563590|UMLS:C1835026	mondo.json	meralgia paraesthetica, familial	http://purl.obolibrary.org/obo/MONDO_0007975	https://omim.org/entry/156220|http://identifiers.org/mesh/C563590|UMLS:C1835026	
MONDO:0005315	biolink:Disease	bone fracture	Breaks in bones.	EFO:0003931|NCIT:C3046|SCTID:125605004|MESH:D050723	mondo.json	fracture|fracture of bone|fracture(s)	http://purl.obolibrary.org/obo/MONDO_0005315	http://identifiers.org/snomedct/125605004|NCIT:C3046|http://identifiers.org/mesh/D050723	other_hierarchy
MONDO:0007976	biolink:Disease	mesomelic dwarfism of hypoplastic tibia and radius type		UMLS:C1835010|OMIM:156230|GARD:0007313|MESH:C563589	mondo.json	mesomelic dwarfism of hypoplastic tibia and radius type	http://purl.obolibrary.org/obo/MONDO_0007976	https://omim.org/entry/156230|UMLS:C1835010|http://identifiers.org/mesh/C563589	gard_rare
MONDO:0005310	biolink:Disease	atrial flutter	A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC)	SCTID:5370000|HP:0004749|ICD9:427.32|MESH:D001282|EFO:0003911|NCIT:C51224	mondo.json	atrial flutter|atrial flutter (disease)	http://purl.obolibrary.org/obo/MONDO_0005310	http://identifiers.org/snomedct/5370000|http://identifiers.org/mesh/D001282|NCIT:C51224	
MONDO:0007973	biolink:Disease	mental and growth retardation with amblyopia		UMLS:C1835028|MESH:C563591|OMIM:156190	mondo.json	mental and growth retardation with amblyopia	http://purl.obolibrary.org/obo/MONDO_0007973	https://omim.org/entry/156190|http://identifiers.org/mesh/C563591|UMLS:C1835028	
MONDO:0007974	biolink:Disease	intellectual disability, autosomal dominant 1	An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures.	Orphanet:228402|DOID:0070031|NCIT:C141424|MESH:C566947|OMIM:156200	mondo.json	mental retardation, autosomal dominant 1|autosomal dominant intellectual disability 1|autosomal dominant non-syndromic intellectual disability caused by mutation in MBD5|mental retardation, autosomal dominant type 1|autosomal dominant non-syndromic intellectual disability 1|autosomal dominant mental retardation 1|intellectual disability, autosomal dominant 1|MRD1|intellectual disability, autosomal dominant type 1|chromosome 2Q23.1 deletion syndrome|MBD5 autosomal dominant non-syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0007974	http://identifiers.org/mesh/C566947|https://omim.org/entry/156200|NCIT:C141424|DOID:0070031	
HGNC:25033	biolink:NamedThing	LRTOMT			mondo.json		http://identifiers.org/hgnc/25033		
MONDO:0005312	biolink:Disease	pouchitis	Acute inflammation in the intestinal mucosa of the continent ileal reservoir (or pouch) in patients who have undergone ileostomy and restorative proctocolectomy (proctocolectomy, restorative).	ICD10CM:K91.850|MESH:D019449|Orphanet:217067|ICD9:569.71|UMLS:C0376620|EFO:0003921	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005312	http://identifiers.org/mesh/D019449|Orphanet:217067|UMLS:C0376620|http://purl.bioontology.org/ontology/ICD10CM/K91.850	
MONDO:0007971	biolink:Disease	delayed membranous cranial ossification	Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.	MESH:C563592|UMLS:C1835030|GARD:0001727|SCTID:715524004|Orphanet:3034|OMIM:155980	mondo.json	membranous cranial ossification, delayed|Gonzales-del Angel syndrome	http://purl.obolibrary.org/obo/MONDO_0007971	http://identifiers.org/mesh/C563592|http://identifiers.org/snomedct/715524004|UMLS:C1835030|Orphanet:3034|https://omim.org/entry/155980	ordo_malformation_syndrome|gard_rare
MONDO:0044964	biolink:Disease	oral cavity mucoepidermoid carcinoma	A mucoepidermoid carcinoma arising from the minor salivary glands in the oral cavity. It is often asymptomatic and detected during a routine dental examination.	UMLS:C0280309|NCIT:C8177	mondo.json	oral cavity mucoepidermoid cancer|mucoepidermoid carcinoma of the oral cavity|mucoepidermoid carcinoma of oral cavity|oral cavity mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0044964	NCIT:C8177|UMLS:C0280309	
MONDO:0007972	biolink:Disease	Meniere disease	A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops.	EFO:0006862|MESH:D008575|Orphanet:45360|SCTID:13445001|ICD9:386.00|OMIM:156000|UMLS:C0025281|DOID:9849|ICD9:386.0	mondo.json	Mnire's vertigo|Meniere disease|otogenic vertigo|Meniere's disease	http://purl.obolibrary.org/obo/MONDO_0007972	UMLS:C0025281|http://identifiers.org/mesh/D008575|https://omim.org/entry/156000|DOID:9849|http://identifiers.org/snomedct/13445001|Orphanet:45360	
MONDO:0005311	biolink:Disease	atherosclerosis	Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen.	ICD9:440.8|NCIT:C35771|NCIT:C35768|ICD9:440|MESH:D050197|EFO:0003914|DOID:1936|SCTID:441574008|ICD10CM:I70	mondo.json	atherosclerosis of artery|atherosclerosis artery|atherosclerotic cardiovascular disease	http://purl.obolibrary.org/obo/MONDO_0005311	NCIT:C35768|NCIT:C35771|http://purl.bioontology.org/ontology/ICD10CM/I70|http://identifiers.org/mesh/D050197|DOID:1936|http://identifiers.org/snomedct/441574008	
MONDO:0007970	biolink:Disease	melorheostosis	Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.	MESH:D008557|NCIT:C84887|DOID:4253|ICD9:756.89|GARD:0009474|OMIM:155950|SCTID:44697002|UMLS:C0025239|MedDRA:10050284|Orphanet:2485	mondo.json	melorheostosis, isolated, somatic mosaic|melorheostosis, isolated|Mel	http://purl.obolibrary.org/obo/MONDO_0007970	http://identifiers.org/mesh/D008557|NCIT:C84887|http://identifiers.org/snomedct/44697002|https://omim.org/entry/155950|Orphanet:2485|DOID:4253|UMLS:C0025239	ordo_malformation_syndrome|gard_rare
NCBITaxon:115425	biolink:OrganismalEntity	Cochliomyia hominivorax		GC_ID:1	mondo.json	primary screw-worm	http://purl.obolibrary.org/obo/NCBITaxon_115425		
MONDO:0019948	biolink:Disease	reducing body myopathy	Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres.	DOID:0080090|Orphanet:97239|SCTID:42779002|ICD9:359.89|GARD:0012162	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019948	DOID:0080090|http://identifiers.org/snomedct/42779002|Orphanet:97239	ordo_disease|gard_rare
UBERON:0002173	biolink:AnatomicalEntity	pulmonary alveolar duct			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002173		
MONDO:0019947	biolink:Disease	rippling muscle disease 2	An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype.	OMIM:606072|UMLS:C1832560|NCIT:C148325|DOID:0060255|OMIM:600332|Orphanet:97238	mondo.json	muscular dystrophy limb-girdle type IC|rippling muscle disease caused by mutation in CAV3|rippling muscle disease type 2|limb-girdle muscular dystrophy type 1C|autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3|LGMD1C|limb-girdle muscular dystrophy due to caveolin-3 deficiency|RMD2|rippling muscle disease 2|muscular dystrophy, limb-girdle, type IC|CAV3 autosomal dominant limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, type 1C|CAV3 rippling muscle disease	http://purl.obolibrary.org/obo/MONDO_0019947	NCIT:C148325|https://omim.org/entry/606072|UMLS:C1832560|Orphanet:97238|DOID:0060255	ordo_disease
MONDO:0019949	biolink:Disease	zebra body myopathy		Orphanet:97240|UMLS:C0270969|ICD9:359.89|SCTID:34513009	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019949	http://identifiers.org/snomedct/34513009|Orphanet:97240|UMLS:C0270969	ordo_disease
MONDO:0019944	biolink:Disease	Eisenmenger syndrome	Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH.	MedDRA:10058554|NCIT:C84390|MESH:D004541|UMLS:C0013743|Orphanet:97214|GARD:0006323|SCTID:445928005	mondo.json	Eisenmenger's syndrome	http://purl.obolibrary.org/obo/MONDO_0019944	Orphanet:97214|UMLS:C0013743|NCIT:C84390|http://identifiers.org/mesh/D004541|http://identifiers.org/snomedct/445928005	gard_rare|ordo_malformation_syndrome
MONDO:0019943	biolink:Disease	hereditary continuous muscle fiber activity	Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.	UMLS:C1834559|GARD:0001512|OMIM:160120|Orphanet:972	mondo.json	continuous muscle fiber activity hereditary	http://purl.obolibrary.org/obo/MONDO_0019943	Orphanet:972|UMLS:C1834559	gard_rare|ordo_disease
MONDO:0019946	biolink:Disease	ligneous conjunctivitis	Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterised by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia.	GARD:0006187|SCTID:403435005|OMIM:217090|MedDRA:10071570|UMLS:C1274789|Orphanet:97231|ICD9:372.39	mondo.json	conjunctivitis lignosa	http://purl.obolibrary.org/obo/MONDO_0019946	http://identifiers.org/snomedct/403435005|Orphanet:97231|UMLS:C1274789	ordo_disease
MONDO:0020920	biolink:Disease	escherichia coli infection	Infection with the organism Escherichia Coli.	NCIT:C34594|GTR:AN0474198|MESH:D004927|UMLS:C0014836|EFO:1001318|GTR:AN0485755|GTR:AN0485754|SCTID:71057007|HP:0002740	mondo.json	E. coli infection|E. coli Infection|ESCHERICHIA COLI INFECT|Recurrent E. coli infections|E Coli Infection|Escherichia Coli Infection|E COLI INFECT|Infection due to Escherichia coli|E. coli Infections|INFECT E COLI|Bacterial infection due to E. coli|INFECT ESCHERICHIA COLI|Escherichia coli Infections|Colibacillosis|E coli Infections|Infection, E coli|Infection, Escherichia coli|E coli infections|Infection, E. coli|Infections, E coli|Escherichia coli infection|e coli infection|Bacterial infection caused by E. coli|Infections, Escherichia coli|E coli Infection|Escherichia coli Infection|escherichia coli infection|E coli infections, recurrent|Infection caused by Escherichia coli	http://purl.obolibrary.org/obo/MONDO_0020920	NCIT:C34594|http://identifiers.org/snomedct/71057007|http://identifiers.org/mesh/D004927|UMLS:C0014836	
MONDO:0019945	biolink:Disease	solar urticaria	Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation.	ICD10CM:L56.3|ICD9:708.8|SCTID:10347006|MedDRA:10041307|Orphanet:97230|UMLS:C0263610	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019945	http://identifiers.org/snomedct/10347006|Orphanet:97230|UMLS:C0263610|http://purl.bioontology.org/ontology/ICD10CM/L56.3	ordo_disease
MONDO:0044956	biolink:Disease	paranasal sinus mucoepidermoid carcinoma	A rare carcinoma that arises from the paranasal sinus. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type.	NCIT:C6018	mondo.json	mucoepidermoid carcinoma of the accessory sinus|mucoepidermoid carcinoma of accessory sinus|accessory sinus mucoepidermoid carcinoma|mucoepidermoid carcinoma of the paranasal sinus|mucoepidermoid carcinoma of paranasal sinus|paranasal sinus mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0044956	NCIT:C6018	
MONDO:0019940	biolink:Disease	hypertrichosis-acromegaloid facial appearance syndrome	Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type.	GARD:0000502|Orphanet:966|SCTID:721837000|UMLS:CN226272	mondo.json	acromegaloid hypertrichosis syndrome|hypertrichosis-acromegaloid facial features syndrome|hypertrichosis-coarse face syndrome|acromegaloid facial appearance syndrome and hypertrichosis|haff	http://purl.obolibrary.org/obo/MONDO_0019940	UMLS:CN226272|Orphanet:966|http://identifiers.org/snomedct/721837000	ordo_malformation_syndrome|gard_rare
MONDO:0019942	biolink:Disease	distal arthrogryposis	A muscle tissue disease characterized by congenital joint contractures of hand and feet.	DOID:0050646|GARD:0000786|Orphanet:97120|SCTID:24269006|OMIMPS:108120	mondo.json	arthrogryposis multiplex congenita distal	http://purl.obolibrary.org/obo/MONDO_0019942	Orphanet:97120|DOID:0050646|http://identifiers.org/snomedct/24269006|https://omim.org/phenotypicSeries/PS108120	disease_grouping|ordo_group_of_disorders
MONDO:0030323	biolink:Disease	spinocerebellar ataxia, autosomal recessive 31		OMIM:619422	mondo.json	spinocerebellar ataxia, autosomal recessive 31|SCAR31	http://purl.obolibrary.org/obo/MONDO_0030323	https://omim.org/entry/619422	
MONDO:0019941	biolink:Disease	hereditary sensory and autonomic neuropathy type 2	Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia.	GARD:0003976|PMID:21089229|SCTID:398148000|DOID:0070161|Orphanet:970|GARD:3976	mondo.json	hereditary sensory neuropathy type 2|HSAN2|neurogenic acroosteolysis|Giaccai type acroosteolysis|autosomal recessive sensory radicular neuropathy|hereditary sensory radicular neuropathy, recessive form|hereditary sensory and autonomic neuropathy type II	http://purl.obolibrary.org/obo/MONDO_0019941	http://identifiers.org/snomedct/398148000|Orphanet:970|DOID:0070161	ordo_disease
UBERON:0002177	biolink:AnatomicalEntity	right main bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002177		
OBO:ECTO_9000433	biolink:NamedThing	exposure to polycyclic arene	An exposure to polycyclic arene.		mondo.json	exposure to polycyclic arene	http://purl.obolibrary.org/obo/ECTO_9000433		
MONDO:0020927	biolink:Disease	postaxial polydactyly		OMIMPS:174200	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020927	https://omim.org/phenotypicSeries/PS174200	
UBERON:0002178	biolink:AnatomicalEntity	left main bronchus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002178		
MONDO:0032904	biolink:Disease	corneal dystrophy, Meesmann, 2		OMIM:618767	mondo.json	MECD2|meesmann corneal dystrophy 2|CORNEAL DYSTROPHY, MEESMANN, 2	http://purl.obolibrary.org/obo/MONDO_0032904	https://omim.org/entry/618767	
MONDO:0032905	biolink:Disease	spastic paraplegia 81, autosomal recessive		OMIM:618768	mondo.json	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE|SPG81	http://purl.obolibrary.org/obo/MONDO_0032905	https://omim.org/entry/618768	
MONDO:0032902	biolink:Disease	Joubert syndrome 36		OMIM:618763	mondo.json	JBTS36|JOUBERT SYNDROME 36	http://purl.obolibrary.org/obo/MONDO_0032902	https://omim.org/entry/618763	
MONDO:0032903	biolink:Disease	arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum		OMIM:618766	mondo.json	arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum|Zain Syndrome|AMCNACC	http://purl.obolibrary.org/obo/MONDO_0032903	https://omim.org/entry/618766	
MONDO:0032900	biolink:Disease	neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements		OMIM:618760	mondo.json	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS|NEDHAHM	http://purl.obolibrary.org/obo/MONDO_0032900	https://omim.org/entry/618760	
MONDO:0005369	biolink:Disease	carcinoid tumor	A slow growing neuroendocrine tumor, composed of uniform, round, or polygonal cells having monotonous, centrally located nuclei and small nucleoli, infrequent mitoses, and no necrosis. The tumor may show a variety of patterns, such as solid, trabecular, and acinar. Electron microscopy shows small secretory granules. Immunohistochemical studies reveal NSE, as well as chromogranin immunoreactivity. Malignant histology (cellular pleomorphism, hyperchromatic nuclei, prominent nucleoli, necrosis, and mitoses) can occasionally be seen. Such cases may have an aggressive clinical course. Gastrointestinal tract and lung are common sites of involvement.	ICD9:209.60|EFO:0004243|GARD:0009316|HP:0100570|MESH:D002276|NCIT:C2915|SCTID:443492008|ICDO:8241/3|ICDO:8240/3	mondo.json	NET G1|neuroendocrine tumor G1|carcinoid tumor|carcinoid|neuroendocrine neoplasm G1|carcinoid tumor (disease)	http://purl.obolibrary.org/obo/MONDO_0005369	http://identifiers.org/snomedct/443492008|http://identifiers.org/mesh/D002276|NCIT:C2915	
MONDO:0032901	biolink:Disease	Catifa syndrome		OMIM:618761	mondo.json	CATIFA|Cleft Lip, Cataract, Tooth Abnormality, Impaired Intellectual Development, Facial Dysmorphism, and Attention-Deficit Hyperactivity Disorder|CATIFA SYNDROME	http://purl.obolibrary.org/obo/MONDO_0032901	https://omim.org/entry/618761	
MONDO:0005368	biolink:Disease	obsolete obsessive-compulsive disorder			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005368		
HGNC:25009	biolink:NamedThing	UBE2T			mondo.json		http://identifiers.org/hgnc/25009		
MONDO:0005365	biolink:Disease	hearing loss disorder	A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central.	UMLS:C1384666|ICD9:389.8|ICD9:389.9|ICD9:389|MESH:D034381|ICD10CM:H90|EFO:0004238|SCTID:15188001|NCIT:C35731	mondo.json	hypoacusis|hearing impairment|hearing loss|deafness|loss of hearing|hypoacuses|loss, hearing	http://purl.obolibrary.org/obo/MONDO_0005365	http://identifiers.org/mesh/D034381|http://identifiers.org/snomedct/15188001|NCIT:C35731|http://purl.bioontology.org/ontology/ICD10CM/H90|UMLS:C1384666	
MONDO:0005364	biolink:Disease	Graves disease	Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism).It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism andoccurs mostoften in women over age 20. However, the disorder may occur at any age and may affect males as well.Treatmentmayinclude radioiodine therapy, antithyroid drugs, and/or thyroid surgery.	SCTID:353295004|EFO:0004237|DOID:12361|ICD9:242.0|MESH:D006111|GARD:0006549|NCIT:C3071	mondo.json	Graves' disease|Basedow's disease|grave's disease|exophthalmic goiter|Graves disease|Graves' hyperthyroidism|Basedow disease|parry disease	http://purl.obolibrary.org/obo/MONDO_0005364	NCIT:C3071|http://identifiers.org/snomedct/353295004|http://identifiers.org/mesh/D006111|DOID:12361	gard_rare
OBO:ECTO_9000409	biolink:NamedThing	exposure to salt	An exposure to salt.		mondo.json	exposure to salt	http://purl.obolibrary.org/obo/ECTO_9000409		
MONDO:0005367	biolink:Disease	heroin dependence	Physical and psychological dependence on the drug heroin.	DOID:9976|EFO:0004240|NCIT:C34694|MESH:D006556|SCTID:231477003|UMLS:CN236651	mondo.json	Heroin addiction	http://purl.obolibrary.org/obo/MONDO_0005367	http://identifiers.org/mesh/D006556|http://identifiers.org/snomedct/231477003|DOID:9976|NCIT:C34694|UMLS:CN236651	
MONDO:0005366	biolink:Disease	chronic hepatitis B virus infection	Chronic form of hepatitis B infection.	MESH:D019694|EFO:0004239|UMLS:C0524909	mondo.json	hepatitis B, chronic|hepatitis B infection, chronic|chronic Hepatitis B	http://purl.obolibrary.org/obo/MONDO_0005366	UMLS:C0524909|http://identifiers.org/mesh/D019694	
MONDO:0005361	biolink:Disease	eosinophilic esophagitis	Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs).	NCIT:C27105|MESH:D057765|SCTID:235599003|Orphanet:73247|MedDRA:10064212|ICD9:530.13|UMLS:C0341106|ICD10CM:K20.0|EFO:0004232|DOID:13922	mondo.json	EoE	http://purl.obolibrary.org/obo/MONDO_0005361	http://identifiers.org/snomedct/235599003|http://identifiers.org/mesh/D057765|Orphanet:73247|UMLS:C0341106|NCIT:C27105|http://purl.bioontology.org/ontology/ICD10CM/K20.0|DOID:13922	ordo_disease
MONDO:0032908	biolink:Disease	CEBALID syndrome		OMIM:618774	mondo.json	Craniofacial Defects, Dysmorphic Ears, Structural Brain Abnormalities, Expressive Language Delay, and Impaired Intellectual Development|MN1 C-terminal truncation syndrome|CEBALID|CEBALID SYNDROME|MCTT	http://purl.obolibrary.org/obo/MONDO_0032908	https://omim.org/entry/618774	
MONDO:0005360	biolink:Disease	obsolete Dupuytren contracture			mondo.json	obsolete Dupuytren contracture (disease)	http://purl.obolibrary.org/obo/MONDO_0005360		
MONDO:0032909	biolink:Disease	mitochondrial complex 3 deficiency, nuclear type 10		OMIM:618775	mondo.json	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10|MC3DN10	http://purl.obolibrary.org/obo/MONDO_0032909	https://omim.org/entry/618775	
MONDO:0005363	biolink:Disease	focal segmental glomerulosclerosis	A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure.	SCTID:236403004|EFO:0004236|DOID:1312|GARD:0006517|OMIMPS:603278|UMLS:CN043606|ICD9:582.1|NCIT:C37308|MESH:D005923	mondo.json	FSGS|focal glomerulosclerosis|focal glomerular sclerosis|FGS|FGS (focal glomerular sclerosis)|FSGS - focal segmental glomerulosclerosis	http://purl.obolibrary.org/obo/MONDO_0005363	http://identifiers.org/mesh/D005923|NCIT:C37308|https://omim.org/phenotypicSeries/PS603278|UMLS:CN043606|http://identifiers.org/snomedct/236403004|DOID:1312	
MONDO:0032906	biolink:Disease	spastic paraplegia 82, autosomal recessive		OMIM:618770	mondo.json	SPG82|SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE	http://purl.obolibrary.org/obo/MONDO_0032906	https://omim.org/entry/618770	
MONDO:0005362	biolink:Disease	erectile dysfunction	Persistent or recurrent inability to achieve or to maintain an erection during sexual activity.	NCIT:C34801|MESH:D007172|SCTID:397803000|EFO:0004234|DOID:1875|HP:0000802	mondo.json	sexual impotence, Male|erectile dysfunction (disease)|male erectile Disorder|sexual impotence (finding)|dysfunction, erectile|impotence|sexual impotence|impotence, male|impotence, male sexual|erectile dysfunction|male impotence|male sexual impotence	http://purl.obolibrary.org/obo/MONDO_0005362	DOID:1875|NCIT:C34801|http://identifiers.org/mesh/D007172|http://identifiers.org/snomedct/397803000	
MONDO:0032907	biolink:Disease	lymphatic malformation 8		OMIM:618773	mondo.json	LYMPHATIC MALFORMATION 8|LMPHM8	http://purl.obolibrary.org/obo/MONDO_0032907	https://omim.org/entry/618773	
OBO:ECTO_9000404	biolink:NamedThing	exposure to nitrogen	An exposure to nitrogen molecular entity.		mondo.json	exposure to nitrogen molecular entity	http://purl.obolibrary.org/obo/ECTO_9000404		
MONDO:0020999	biolink:Disease	obsolete genetic chronic primary adrenal insufficiency		Orphanet:101960	mondo.json		http://purl.obolibrary.org/obo/MONDO_0020999	Orphanet:101960	ordo_group_of_disorders|disease_grouping
MONDO:0017358	biolink:Disease	obsolete organic aciduria			mondo.json		http://purl.obolibrary.org/obo/MONDO_0017358		
MONDO:0017359	biolink:Disease	3-methylglutaconic aciduria	A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine.	MESH:C579867|SCTID:237950009|OMIMPS:250950|NCIT:C98678|DOID:0060336|UMLS:C3696376|ICD10CM:E71.111|Orphanet:289902	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017359	DOID:0060336|http://purl.bioontology.org/ontology/ICD10CM/E71.111|NCIT:C98678|Orphanet:289902|UMLS:C3696376|https://omim.org/phenotypicSeries/PS250950|http://identifiers.org/mesh/C579867|http://identifiers.org/snomedct/237950009	ordo_group_of_disorders|disease_grouping
MONDO:0017354	biolink:Disease	infantile glycine encephalopathy	Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures.	Orphanet:289860	mondo.json	infantile NKH|infantile non-ketotic hyperglycinemia|glycine encephalopathy of infancy|infantile onset glycine encephalopathy	http://purl.obolibrary.org/obo/MONDO_0017354	Orphanet:289860	ordo_clinical_subtype
MONDO:0017355	biolink:Disease	inborn disorder of proline metabolism	An inherited metabolic disease that is has its basis in the disruption of proline metabolic process.	Orphanet:289866|UMLS:CN227118	mondo.json	inborn proline metabolic process disorder|rare inborn error of proline metabolic process|disorder of proline metabolism|inborn error of proline metabolic process	http://purl.obolibrary.org/obo/MONDO_0017355	Orphanet:289866|UMLS:CN227118	disease_grouping|ordo_group_of_disorders
HGNC:15685	biolink:NamedThing	B4GAT1			mondo.json		http://identifiers.org/hgnc/15685		
MONDO:0017356	biolink:Disease	inborn disorder of ornithine metabolism	An inherited metabolic disease that is has its basis in the disruption of ornithine metabolic process.	Orphanet:289869|SCTID:237928008|UMLS:C0342690	mondo.json	rare inborn error of ornithine metabolic process|inborn error of ornithine metabolic process|inborn ornithine metabolic process disorder|disorder of ornithine metabolism	http://purl.obolibrary.org/obo/MONDO_0017356	Orphanet:289869|UMLS:C0342690|http://identifiers.org/snomedct/237928008	disease_grouping|ordo_group_of_disorders
MONDO:0017357	biolink:Disease	transient hyperammonemia of the newborn		UMLS:CN203020|Orphanet:289877	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017357	Orphanet:289877|UMLS:CN203020	ordo_clinical_situation
MONDO:0017350	biolink:Disease	inborn disorder of tryptophan metabolism	An inherited metabolic disease that is has its basis in the disruption of tryptophan metabolic process.	SCTID:5181007|UMLS:CN203012|Orphanet:289829|ICD9:270.2	mondo.json	inborn tryptophan metabolic process disorder|inborn error of tryptophan metabolic process|rare inborn error of tryptophan metabolic process|disorder of tryptophan metabolism	http://purl.obolibrary.org/obo/MONDO_0017350	http://identifiers.org/snomedct/5181007|UMLS:CN203012|Orphanet:289829	ordo_group_of_disorders|disease_grouping
MONDO:0017351	biolink:Disease	inborn disorder of lysine and hydroxylysine metabolism		ICD10CM:E72.3|SCTID:237929000|Orphanet:289832|ICD9:270.8|ICD9:270.7	mondo.json	disorder of lysine and hydroxylysine metabolism	http://purl.obolibrary.org/obo/MONDO_0017351	http://purl.bioontology.org/ontology/ICD10CM/E72.3|http://identifiers.org/snomedct/237929000|Orphanet:289832	disease_grouping|ordo_group_of_disorders
CHR:9606-chr15q26-qter	biolink:NamedThing	15q26-qter (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr15q26-qter		
MONDO:0017352	biolink:Disease	disorder of glutamine metabolism		SCTID:190724004|Orphanet:289841|ICD9:270.7|UMLS:C0342669	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017352	http://identifiers.org/snomedct/190724004|Orphanet:289841|UMLS:C0342669	ordo_group_of_disorders|disease_grouping
MONDO:0017353	biolink:Disease	neonatal glycine encephalopathy	Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.	Orphanet:289857	mondo.json	classic glycine encephalopathy|neonatal NKH|neonatal non-ketotic hyperglycinemia	http://purl.obolibrary.org/obo/MONDO_0017353	Orphanet:289857	ordo_clinical_subtype
MONDO:0032915	biolink:Disease	long QT syndrome 16		OMIM:618782	mondo.json	Ventricular Tachycardia, Catecholaminergic Polymorphic 6|LONG QT SYNDROME 16|long QT syndrome 16|LQT16	http://purl.obolibrary.org/obo/MONDO_0032915	https://omim.org/entry/618782	
HGNC:25018	biolink:NamedThing	TMEM216			mondo.json		http://identifiers.org/hgnc/25018		
MONDO:0032916	biolink:Disease	Imagawa-Matsumoto syndrome		OMIM:618786	mondo.json	IMMAS|IMAGAWA-MATSUMOTO SYNDROME	http://purl.obolibrary.org/obo/MONDO_0032916	https://omim.org/entry/618786	
MONDO:0032913	biolink:Disease	congenital heart defects, multiple types, 7		OMIM:618780	mondo.json	CHTD7|CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7	http://purl.obolibrary.org/obo/MONDO_0032913	https://omim.org/entry/618780	
NCBITaxon:32351	biolink:OrganismalEntity	melanogaster subgroup		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_32351		
MONDO:0032914	biolink:Disease	ciliary dyskinesia, primary, 44		OMIM:618781	mondo.json	CILIARY DYSKINESIA, PRIMARY, 44|CILD44|Ciliary Dyskinesia, Primary, 44, Without Situs Inversus	http://purl.obolibrary.org/obo/MONDO_0032914	https://omim.org/entry/618781	
MONDO:0032911	biolink:Disease	hearing loss, autosomal dominant 75		OMIM:618778	mondo.json	DEAFNESS, AUTOSOMAL DOMINANT 75|deafness, autosomal dominant 75|DFNA75	http://purl.obolibrary.org/obo/MONDO_0032911	https://omim.org/entry/618778	
MONDO:0005379	biolink:Disease	neurotic disorder	A form of functional mental illness that manifests in distressed emotional reactions such as anxiety, obsessive thoughts, compulsive behaviors, or irrational fears.	ICD10CM:F34.1|SCTID:111475002|ICD9:300.9|DOID:4964|NCIT:C34848|MESH:D000275|MESH:D003866|NCIT:C35369|SCTID:78667006|EFO:0004257|ICD9:300.89|MESH:D009497	mondo.json	psychoneurosis NOS|disorders, neurotic|Psychoneuroses|neurotic depressive state|disorder, neurotic|neurotic depression reactive type|neurotic depression|neuroses|neurosis|psychoneurosis|neurotic disorder|reactive depression|depressive neurosis	http://purl.obolibrary.org/obo/MONDO_0005379	http://identifiers.org/snomedct/111475002|http://identifiers.org/mesh/D009497|NCIT:C34848|DOID:4964	
MONDO:0032912	biolink:Disease	Coffin-Siris syndrome 11		OMIM:618779	mondo.json	CSS11|COFFIN-SIRIS SYNDROME 11	http://purl.obolibrary.org/obo/MONDO_0032912	https://omim.org/entry/618779	
MONDO:0032910	biolink:Disease	mitochondrial complex 1 deficiency, nuclear type 34		OMIM:618776	mondo.json	MC1DN34|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34	http://purl.obolibrary.org/obo/MONDO_0032910	https://omim.org/entry/618776	
MONDO:0005376	biolink:Disease	membranous glomerulonephritis	A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome.	UMLS:C0017665|MESH:D015433|SCTID:77182004|EFO:0004254|DOID:10976|ICD9:582.1|ICD9:583.1|NCIT:C34645	mondo.json	membranous nephropathy|membranous Glomerulonephropathy	http://purl.obolibrary.org/obo/MONDO_0005376	UMLS:C0017665|DOID:10976|http://identifiers.org/mesh/D015433|NCIT:C34645|http://identifiers.org/snomedct/77182004	
MONDO:0005375	biolink:Disease	nasopharyngeal neoplasm	A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma.	NCIT:C3257|UMLS:C0027439|MESH:D009303|SCTID:126680004|EFO:0004252	mondo.json	nasopharynx neoplasm (disease)|tumor of nasopharynx|neoplasm of the nasopharynx|nasopharyngeal tumor|nasopharynx tumor|neoplasm of nasopharynx|nasopharynx neoplasm|tumor of the nasopharynx|nasopharyngeal neoplasms	http://purl.obolibrary.org/obo/MONDO_0005375	NCIT:C3257|UMLS:C0027439|http://identifiers.org/snomedct/126680004|http://identifiers.org/mesh/D009303	
MONDO:0005378	biolink:Disease	obsolete neuromyelitis optica			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005378		
MONDO:0005377	biolink:Disease	nephrotic syndrome	A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction.	MESH:D009404|ICD9:581|SCTID:52254009|NCIT:C34845|ICD9:581.9|UMLS:C0027726|DOID:1184|EFO:0004255|Orphanet:564127	mondo.json	syndrome, nephrotic|syndromes, nephrotic|nephrotic syndrome|nephrotic syndromes|nephrosis	http://purl.obolibrary.org/obo/MONDO_0005377	UMLS:C0027726|http://identifiers.org/mesh/D009404|NCIT:C34845|http://identifiers.org/snomedct/52254009|DOID:1184	
MONDO:0032919	biolink:Disease	intellectual developmental disorder 62		OMIM:618793	mondo.json	INTELLECTUAL DEVELOPMENTAL DISORDER 62|MRD62|Mental Retardation, Autosomal Dominant 62	http://purl.obolibrary.org/obo/MONDO_0032919	https://omim.org/entry/618793	
MONDO:0005372	biolink:Disease	male infertility	The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.	ICD9:606|SCTID:2904007|UMLS:C0021364|ICD10CM:N46|ICD9:606.9|DOID:12336|EFO:0004248|MESH:D007248	mondo.json	infertility disorder of male reproductive system|male reproductive system infertility disorder|male reproductive system infertility	http://purl.obolibrary.org/obo/MONDO_0005372	http://identifiers.org/mesh/D007248|http://identifiers.org/snomedct/2904007|DOID:12336|http://purl.bioontology.org/ontology/ICD10CM/N46|UMLS:C0021364	
MONDO:0005371	biolink:Disease	mood disorder	A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature.	MESH:D019964|DOID:3324|EFO:0004247|UMLS:CN236678|ICD10CM:F30-F39|NCIT:C92200|ICD9:296.99|SCTID:46206005	mondo.json	episodic mood disorder	http://purl.obolibrary.org/obo/MONDO_0005371	http://identifiers.org/snomedct/46206005|NCIT:C92200|DOID:3324|UMLS:CN236678|http://purl.bioontology.org/ontology/ICD10CM/F30-F39|http://identifiers.org/mesh/D019964	
MONDO:0005374	biolink:Disease	bone marrow neoplasm	Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow).	UMLS:C0282609|SCTID:414824005|DOID:4960|MESH:D019046|NCIT:C35370|ICD9:238.79	mondo.json	bone marrow neoplasm (disease)|neoplasm of bone marrow|tumor of bone marrow|bone marrow tumor|bone marrow neoplasm|bone marrow cancer|malignant bone marrow tumor	http://purl.obolibrary.org/obo/MONDO_0005374	http://identifiers.org/snomedct/414824005|NCIT:C35370|UMLS:C0282609|http://identifiers.org/mesh/D019046|DOID:4960	
MONDO:0032917	biolink:Disease	hearing loss, autosomal dominant 76		OMIM:618787	mondo.json	DEAFNESS, AUTOSOMAL DOMINANT 76|deafness, autosomal dominant 76|DFNA76	http://purl.obolibrary.org/obo/MONDO_0032917	https://omim.org/entry/618787	
MONDO:0032918	biolink:Disease	developmental and epileptic encephalopathy, 84		OMIM:618792	mondo.json	Jamuar Syndrome|developmental and epileptic encephalopathy 84|EIEE84|DEE84|epileptic encephalopathy, early infantile, 84|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84	http://purl.obolibrary.org/obo/MONDO_0032918	https://omim.org/entry/618792	
MONDO:0005373	biolink:Disease	meningococcal infection	Infections with bacteria of the species neisseria meningitidis.	SCTID:23511006|UMLS:C0025303|ICD9:036.9|MESH:D008589|ICD9:036|EFO:0004249|ICD9:036.89|GARD:0009547|ICD10CM:A39|GARD:0007169	mondo.json	meningococcal disease|Neisseria meningitidis infection|infections, Neisseria meningitidis	http://purl.obolibrary.org/obo/MONDO_0005373	http://identifiers.org/snomedct/23511006|http://purl.bioontology.org/ontology/ICD10CM/A39|UMLS:C0025303|http://identifiers.org/mesh/D008589	gard_rare
MONDO:0005370	biolink:Disease	obsolete interstitial lung disease			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005370		
MONDO:0020989	biolink:Disease	hereditary persistence of fetal hemoglobin	The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin.	OMIM:142250|OMIM:141900|SCTID:191201002|NCIT:C129072|UMLS:C0019025|OMIM:142200|ICD9:282.7	mondo.json	Hereditary persistence of fetal hemoglobin|Hb F disease|HEREDITARY PERSISTENCE of FETAL HEMOGLOBIN|hereditary persistence of fetal hemoglobin|HPFH - Hereditary persistence of fetal hemoglobin|Disease, Hemoglobin F|Hereditary Persistence of Fetal Hemoglobin|HEMOGLOBIN F DIS|Hemoglobin F Disease	http://purl.obolibrary.org/obo/MONDO_0020989	NCIT:C129072|UMLS:C0019025|http://identifiers.org/snomedct/191201002	
MONDO:0017347	biolink:Disease	plasmablastic lymphoma	An aggressive diffuse large B-cell lymphoma frequently arising in the setting of HIV infection and characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. Sites of involvement include the oral cavity, sinonasal cavity, skin, soft tissues, gastrointestinal tract, and bone.	MESH:D000069293|UMLS:C3472614|SCTID:724648008|NCIT:C7224|MedDRA:10065039|ICDO:9735/3|ONCOTREE:PLBL|Orphanet:289666|GARD:0012125|ICDO:9684/3	mondo.json	PBL|Plasmablastic lymphoma|PLBL	http://purl.obolibrary.org/obo/MONDO_0017347	Orphanet:289666|UMLS:C3472614|http://identifiers.org/mesh/D000069293|http://identifiers.org/snomedct/724648008|NCIT:C7224	ordo_disease|gard_rare
MONDO:0017348	biolink:Disease	lymphoepithelial-like carcinoma	Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ.	Orphanet:289682	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017348	Orphanet:289682	ordo_disease
MONDO:0017349	biolink:Disease	myopericytoma	A usually slow growing, subcutaneous nodular neoplasm arising from myopericytes. It is composed of myoid cells arranged in a perivascular growth pattern. The vast majority of cases have a benign clinical course.	Orphanet:289685|NCIT:C50401|UMLS:C1302808|ICDO:8713/1|ONCOTREE:MPC|MESH:D000077777	mondo.json	hemangiopericytoma|MPC|solitary myofibroma	http://purl.obolibrary.org/obo/MONDO_0017349	Orphanet:289685|http://identifiers.org/mesh/D000077777|NCIT:C50401|UMLS:C1302808	ordo_disease
MONDO:0017343	biolink:Disease	Epstein-Barr virus-associated malignant lymphoproliferative disorder		MedDRA:10068349|Orphanet:289644|UMLS:C2363744	mondo.json	EBV-associated lymphoproliferative disorder	http://purl.obolibrary.org/obo/MONDO_0017343	Orphanet:289644|UMLS:C2363744	disease_grouping|ordo_group_of_disorders
MONDO:0017344	biolink:Disease	Epstein-Barr virus-associated carcinoma		Orphanet:289651	mondo.json	EBV-associated carcinoma	http://purl.obolibrary.org/obo/MONDO_0017344	Orphanet:289651	ordo_group_of_disorders|disease_grouping
MONDO:0017345	biolink:Disease	Epstein-Barr virus-associated mesenchymal tumor		UMLS:CN203006|Orphanet:289656	mondo.json	EBV-associated mesenchymal tumor	http://purl.obolibrary.org/obo/MONDO_0017345	Orphanet:289656|UMLS:CN203006	disease_grouping|ordo_group_of_disorders
HGNC:13030	biolink:NamedThing	ZBTB18			mondo.json		http://identifiers.org/hgnc/13030		
MONDO:0017346	biolink:Disease	Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly	Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate.	Orphanet:289661|SCTID:716788007|UMLS:C2700007|ICDO:9680/3|NCIT:C80281	mondo.json	EBV Positive diffuse large B-cell lymphoma of the elderly|Senile EBV-associated B-cell lymphoproliferative disorder|age-related EBV Positive B-cell lymphoproliferative disorder|EBV-positive DLBCL of the elderly|EBV-Positive diffuse large B-cell lymphoma, NOS|Epstein-Barr Virus Positive diffuse large B-cell lymphoma of the elderly	http://purl.obolibrary.org/obo/MONDO_0017346	Orphanet:289661|http://identifiers.org/snomedct/716788007|UMLS:C2700007|NCIT:C80281	ordo_disease
MONDO:0017340	biolink:Disease	juvenile nasopharyngeal angiofibroma	Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures.	ICD10CM:D10.6|HP:0030429|SCTID:716590006|UMLS:CN202999|NCIT:C27479|UMLS:C1367536|Orphanet:289596	mondo.json	JNA|nasopharyngeal angiofibroma|nasopharyngeal juvenile angiofibroma|juvenile nasopharyngeal angiofibroma|juvenile nasopharyngeal angiofibroma (disease)	http://purl.obolibrary.org/obo/MONDO_0017340	UMLS:CN202999|http://identifiers.org/snomedct/716590006|UMLS:C1367536|NCIT:C27479|Orphanet:289596	ordo_disease
MONDO:0017341	biolink:Disease	virus associated tumor		Orphanet:289635|UMLS:CN203003	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017341	Orphanet:289635|UMLS:CN203003	disease_grouping|ordo_group_of_disorders
MONDO:0017342	biolink:Disease	Epstein-Barr virus-related tumor		Orphanet:289638|UMLS:CN203004	mondo.json	EBV-related tumor	http://purl.obolibrary.org/obo/MONDO_0017342	Orphanet:289638|UMLS:CN203004	disease_grouping|ordo_group_of_disorders
MONDO:0032926	biolink:Disease	sandestig-stefanova syndrome		OMIM:618804	mondo.json	SANDESTIG-STEFANOVA SYNDROME|SANDSTEF	http://purl.obolibrary.org/obo/MONDO_0032926	https://omim.org/entry/618804	
OBO:ECTO_0000007	biolink:NamedThing	exposure to visible light radiation	A exposure event involving the interaction of an exposure receptor to visible spectrum radiation.		mondo.json	visible spectrum radiation exposure	http://purl.obolibrary.org/obo/ECTO_0000007		
MONDO:0032927	biolink:Disease	triokinase and FMN cyclase deficiency syndrome		OMIM:618805	mondo.json	TKFCD|TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME	http://purl.obolibrary.org/obo/MONDO_0032927	https://omim.org/entry/618805	
OBO:ECTO_0000006	biolink:NamedThing	exposure to ultraviolet radiation	A exposure event involving the interaction of an exposure receptor to ultraviolet radiation.		mondo.json	ultraviolet radiation exposure	http://purl.obolibrary.org/obo/ECTO_0000006		
MONDO:0032924	biolink:Disease	ciliary dyskinesia, primary, 45		OMIM:618801	mondo.json	Ciliary Dyskinesia, Primary, 45, Without Situs Inversus|CILIARY DYSKINESIA, PRIMARY, 45|CILD45	http://purl.obolibrary.org/obo/MONDO_0032924	https://omim.org/entry/618801	
MONDO:0032925	biolink:Disease	respiratory papillomatosis, juvenile recurrent, congenital		OMIM:618803	mondo.json	RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL|JRRP	http://purl.obolibrary.org/obo/MONDO_0032925	https://omim.org/entry/618803	
MONDO:0005347	biolink:Disease	hypertriglyceridemia	A laboratory test result indicating elevated triglyceride concentration in the blood.	EFO:0004211|UMLS:C0020557|SCTID:302870006|HP:0002155|MESH:D015228	mondo.json	hypertriglyceridemia|hypertriglyceridemia (disease)	http://purl.obolibrary.org/obo/MONDO_0005347	http://identifiers.org/mesh/D015228|UMLS:C0020557|http://identifiers.org/snomedct/302870006	
MONDO:0032922	biolink:Disease	Beck-Fahrner syndrome		OMIM:618798	mondo.json	BECK-FAHRNER SYNDROME|BEFAHRS	http://purl.obolibrary.org/obo/MONDO_0032922	https://omim.org/entry/618798	
MONDO:0032923	biolink:Disease	spinocerebellar ataxia, autosomal recessive 28		OMIM:618800	mondo.json	SCAR28|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28	http://purl.obolibrary.org/obo/MONDO_0032923	https://omim.org/entry/618800	
MONDO:0005346	biolink:Disease	gallstones	Solid crystalline precipitates in the biliary tract, usually formed in the gallbladder, resulting in the condition of cholelithiasis. Gallstones, derived from the bile, consist mainly of calcium, cholesterol, or bilirubin.	EFO:0004210|ICD9:574.20|SCTID:235919008|MESH:D042882	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005346	http://identifiers.org/snomedct/235919008|http://identifiers.org/mesh/D042882	
MONDO:0005349	biolink:Disease	otosclerosis	Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs.	SCTID:11543004|OMIMPS:166800|HP:0000362|EFO:0004213|DOID:12185|Orphanet:2794|ICD9:387|ICD9:387.9|ICD9:387.8|UMLS:C0029899|MESH:D010040	mondo.json	otosclerosis|otosclerosis (disease)	http://purl.obolibrary.org/obo/MONDO_0005349	http://identifiers.org/mesh/D010040|http://identifiers.org/snomedct/11543004|DOID:12185|UMLS:C0029899|https://omim.org/phenotypicSeries/PS166800|Orphanet:2794	
MONDO:0032920	biolink:Disease	juvenile arthritis due to defect in LACC1		OMIM:618795	mondo.json	JUVENILE ARTHRITIS|JUVAR	http://purl.obolibrary.org/obo/MONDO_0032920	https://omim.org/entry/618795	
MONDO:0005348	biolink:Disease	keloid	An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively.	EFO:0004212|MESH:D007627|ICD9:701.4|NCIT:C3145|SCTID:33659008	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005348	http://identifiers.org/mesh/D007627|NCIT:C3145|http://identifiers.org/snomedct/33659008	
MONDO:0032921	biolink:Disease	neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation		OMIM:618797	mondo.json	NEDHRIT|NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION	http://purl.obolibrary.org/obo/MONDO_0032921	https://omim.org/entry/618797	
MONDO:0005343	biolink:Disease	obsolete viral human hepatitis			mondo.json		http://purl.obolibrary.org/obo/MONDO_0005343		
MONDO:0020983	biolink:Disease	myocardial rupture	Disease-related laceration or tearing of tissues of the heart, including the free-wall MYOCARDIUM; HEART SEPTUM; PAPILLARY MUSCLES; CHORDAE TENDINEAE; and any of the HEART VALVES. Pathological rupture usually results from myocardial infarction (HEART RUPTURE, POST-INFARCTION).	GARD:0010468|MESH:D006341|UMLS:C0018813	mondo.json	Cardiac Rupture|Cardiac Free Wall Rupture|Cardiac Ruptures|Heart Rupture|Myocardial Rupture|Free Wall Rupture, Heart|Rupture of heart|Ventricular Free Wall Rupture|Heart Ruptures	http://purl.obolibrary.org/obo/MONDO_0020983	http://identifiers.org/mesh/D006341|UMLS:C0018813	gard_rare
MONDO:0005342	biolink:Disease	IgA glomerulonephritis	Inflammation of a specific segment of glomeruli within the kidney.	OMIMPS:161950|SCTID:68779003|Orphanet:34145|ICD9:583.9|UMLS:C0017661|DOID:2986|EFO:0004194|NCIT:C34643|MESH:D005922	mondo.json	segmental glomerulonephritis|berger's IgA or IgG nephropathy|IgA glomerulonephritis|primary IgA nephropathy|berger's disease|IgA nephropathy|focal glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0005342	DOID:2986|https://omim.org/phenotypicSeries/PS161950|Orphanet:34145|http://identifiers.org/mesh/D005922|UMLS:C0017661|http://identifiers.org/snomedct/68779003|NCIT:C34643	
MONDO:0005345	biolink:Disease	hypospadias	Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce.	MESH:D007021|UMLS:C0848558|GARD:0002929|NCIT:C40341|ICD9:752.61|HP:0000047|OMIMPS:300633|Orphanet:440|EFO:0004209|SCTID:416010008|DOID:10892|UMLS:CN205090	mondo.json	familial hypospadias|hypospadias|hypospadias (disease)|hypospadias familial	http://purl.obolibrary.org/obo/MONDO_0005345	UMLS:CN205090|UMLS:C0848558|https://omim.org/phenotypicSeries/PS300633|DOID:10892|NCIT:C40341|http://identifiers.org/snomedct/416010008|http://identifiers.org/mesh/D007021|Orphanet:440	ordo_morphological_anomaly
MONDO:0005344	biolink:Disease	hepatitis B virus infection	A viral infection caused by the hepatitis B virus.	SCTID:66071002|DOID:2043|EFO:0004197|UMLS:C0019163|MESH:D006509|ICD9:070.30|NCIT:C3097	mondo.json	Hepatitis B infection|Hepatitis B virus caused hepatitis|Hepatitis B|chronic hepatitis B|Hepatitis B virus hepatitis|viral Hepatitis B|hepatitis type B|hepatitis B infection|serum hepatitis	http://purl.obolibrary.org/obo/MONDO_0005344	DOID:2043|UMLS:C0019163|http://identifiers.org/mesh/D006509|NCIT:C3097|http://identifiers.org/snomedct/66071002	
MONDO:0020980	biolink:Disease	hair nevus	A usually benign congenital skin growth that is often pigmented and sometimes develop coarse surface hair. There is a lifetime risk of transformation to malignant melanoma which varies depending on the size of the lesion.	SCTID:201161009|NCIT:C3074|UMLS:C0018508	mondo.json	hairy nevus|hair nevus|nevoid hypertrichosis	http://purl.obolibrary.org/obo/MONDO_0020980	http://identifiers.org/snomedct/201161009|UMLS:C0018508|NCIT:C3074	
MONDO:0005341	biolink:Disease	skin basal cell carcinoma	The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas.	CSP:2000-2719|ONCOTREE:BCC|KEGG:05217|ICDO:8090/3|UMLS:C0206710|SCTID:254701007|UMLS:C0751676|NCIT:C2921|UMLS:C0007117|HP:0002671|EFO:0004193|DOID:2513	mondo.json	basal cell skin carcinoma|basal cell carcinoma|basal cell carcinoma of the skin|basal cell epithelioma|skin basal cell carcinoma|basal cell cancer|epithelioma basal cell|basal cell tumor|basal cell carcinoma of skin|BCC|skin basal cell cancer	http://purl.obolibrary.org/obo/MONDO_0005341	DOID:2513|NCIT:C2921|http://identifiers.org/snomedct/254701007|UMLS:C0007117|UMLS:C0206710|UMLS:C0751676	
MONDO:0032928	biolink:Disease	T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant		OMIM:618806	mondo.json	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT|TLIND	http://purl.obolibrary.org/obo/MONDO_0032928	https://omim.org/entry/618806	
CHR:9606-chr19p1	biolink:NamedThing	19p1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr19p1		
MONDO:0005340	biolink:Disease	alopecia areata	Loss of scalp and body hair involving microscopically inflammatory patchy areas.	MESH:D000506|OMIM:610753|GARD:0005782|DOID:986|EFO:0004192|SCTID:68225006|ICD9:704.01|ICD10CM:L63|UMLS:C0002171	mondo.json	patchy loss of hair|alopecia areata|circumscribed alopecia|alopecia circumscripta	http://purl.obolibrary.org/obo/MONDO_0005340	http://purl.bioontology.org/ontology/ICD10CM/L63|UMLS:C0002171|http://identifiers.org/snomedct/68225006|http://identifiers.org/mesh/D000506|DOID:986	
MONDO:0044903	biolink:Disease	myelofibrosis	A partial or complete replacement of the bone marrow stroma by fibrous tissue. It can be a primary bone marrow lesion as part of the chronic myeloproliferative disorders (chronic idiopathic myelofibrosis), a manifestation of acute myeloid leukemia (acute panmyelosis with myelofibrosis), or a secondary phenomenon due to bone marrow involvement by a metastatic tumor (e.g., metastatic breast carcinoma). --2003	NCIT:C3248	mondo.json	myelofibrosis	http://purl.obolibrary.org/obo/MONDO_0044903	NCIT:C3248	
MONDO:0044906	biolink:Disease	bladder urothelial papilloma	A benign neoplasm of the bladder that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma.	NCIT:C39858	mondo.json	bladder urothelial papilloma|urinary bladder urothelial papilloma|urinary bladder transitional cell papilloma|bladder transitional cell papilloma	http://purl.obolibrary.org/obo/MONDO_0044906	NCIT:C39858	
MONDO:0020979	biolink:Disease	pilosebaceous hamartoma	A hamartoma characterized by localized pilosebaceous apparatus malformation.	NCIT:C5565	mondo.json	pilosebaceous hamartoma	http://purl.obolibrary.org/obo/MONDO_0020979	NCIT:C5565	
MONDO:0020977	biolink:Disease	granulomatous prostatitis	An infectious or non-infectious inflammatory process that affects the prostate gland. Infectious causative agents include bacteria, parasites, fungi, and viruses. It is characterized by the formation of granulomas in the prostatic tissue.	ICD9:601.8|UMLS:C0018204|NCIT:C26789|SCTID:61500009	mondo.json	granulomatous prostatitis|Granulomatous prostatitis|Granulomatous Prostatitis	http://purl.obolibrary.org/obo/MONDO_0020977	NCIT:C26789|http://identifiers.org/snomedct/61500009|UMLS:C0018204	
MONDO:0019999	biolink:Disease	intestinal malformation		Orphanet:97945	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019999	Orphanet:97945	ordo_group_of_disorders|disease_grouping
MONDO:0017336	biolink:Disease	fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency		Orphanet:289527	mondo.json	fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency|fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency|fatal infantile HCM due to mitochondrial complex I deficiency	http://purl.obolibrary.org/obo/MONDO_0017336	Orphanet:289527	ordo_disease
MONDO:0019998	biolink:Disease	gastroduodenal malformation		Orphanet:97944	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019998	Orphanet:97944	disease_grouping|ordo_group_of_disorders
MONDO:0017337	biolink:Disease	inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.	SCTID:764960005|Orphanet:289548	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017337	Orphanet:289548|http://identifiers.org/snomedct/764960005	ordo_disease
MONDO:0017338	biolink:Disease	fatal multiple mitochondrial dysfunctions syndrome	Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual.	UMLS:CN234684|DOID:0070330|UMLS:C3502075|Orphanet:289573|OMIMPS:605711|SCTID:720827002|MESH:C565304|GARD:0012632|UMLS:CN202994	mondo.json	fatal multiple mitochondrial dysfunction syndrome|MMDS|multiple mitochondrial dysfunctions syndrome	http://purl.obolibrary.org/obo/MONDO_0017338	http://identifiers.org/snomedct/720827002|Orphanet:289573|UMLS:CN234684|DOID:0070330|UMLS:C3502075|UMLS:CN202994|https://omim.org/phenotypicSeries/PS605711|http://identifiers.org/mesh/C565304	ordo_group_of_disorders|disease_grouping
MONDO:0017339	biolink:Disease	exfoliative ichthyosis	Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.	Orphanet:289586|UMLS:C1838440	mondo.json	ichthyosis exfoliativa|exfoliative ichthyosis|autosomal recessive exfoliative ichthyosis	http://purl.obolibrary.org/obo/MONDO_0017339	UMLS:C1838440|Orphanet:289586	ordo_disease|clingen
MONDO:0020974	biolink:Disease	laryngeal granuloma	A tumor-like nodule or mass of inflammatory granulation tissue projecting into the lumen of the LARYNX.	ICD9:478.79|SCTID:72211003|MESH:D006102|UMLS:C0018196	mondo.json	Larynx Granuloma|Larynx Granulomas|Laryngeal Granuloma|Granulomas, Laryngeal|laryngeal granuloma|Laryngeal granuloma|Laryngeal Granulomas|Granuloma of Larynx|Granuloma, Laryngeal	http://purl.obolibrary.org/obo/MONDO_0020974	http://identifiers.org/snomedct/72211003|http://identifiers.org/mesh/D006102|UMLS:C0018196	
MONDO:0019995	biolink:Disease	peripheral resistance to thyroid hormones	Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.	UMLS:C4273673|Orphanet:97927|SCTID:718193005|GARD:0012734|UMLS:CN206931	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019995	http://identifiers.org/snomedct/718193005|UMLS:CN206931|UMLS:C4273673|Orphanet:97927	ordo_disease|gard_rare
MONDO:0017332	biolink:Disease	pyoderma gangrenosum-acne-suppurative hidradenitis syndrome		UMLS:CN202977|Orphanet:289478|EFO:0009009	mondo.json	pash syndrome	http://purl.obolibrary.org/obo/MONDO_0017332	Orphanet:289478|UMLS:CN202977	ordo_disease
NCBITaxon:32346	biolink:OrganismalEntity	melanogaster group		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_32346		
MONDO:0017333	biolink:Disease	obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism		Orphanet:289494|UMLS:CN168056	mondo.json	Pol III-related leukodystrophy	http://purl.obolibrary.org/obo/MONDO_0017333	Orphanet:289494|UMLS:CN168056	ordo_group_of_disorders
MONDO:0032930	biolink:Disease	intellectual developmental disorder with poor growth and with or without seizures or ataxia		OMIM:618808	mondo.json	IDPOGSA|INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA	http://purl.obolibrary.org/obo/MONDO_0032930	https://omim.org/entry/618808	
MONDO:0019994	biolink:Disease	maternal uniparental disomy of chromosome 13	Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.	Orphanet:97678|UMLS:CN036719	mondo.json	maternal uniparental disomy of chromosome type 13|UPD(13)mat	http://purl.obolibrary.org/obo/MONDO_0019994	UMLS:CN036719|Orphanet:97678	ordo_malformation_syndrome
MONDO:0017334	biolink:Disease	12q15q21.1 microdeletion syndrome	12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.	UMLS:C4518344|SCTID:734030009|UMLS:CN202984|Orphanet:289513	mondo.json	deletion 12q15q21.1|Del(12)(q15)(q21.1)|monosomy 12q15q21.1	http://purl.obolibrary.org/obo/MONDO_0017334	Orphanet:289513|UMLS:C4518344|http://identifiers.org/snomedct/734030009|UMLS:CN202984	ordo_malformation_syndrome
MONDO:0019997	biolink:Disease	obsolete rare gastroenterologic disease		UMLS:CN206933|Orphanet:97935	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019997	Orphanet:97935|UMLS:CN206933	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0017335	biolink:Disease	microtriplication 11q24.1	Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.	Orphanet:289522	mondo.json	tetrasomy 11q24.1	http://purl.obolibrary.org/obo/MONDO_0017335	Orphanet:289522	ordo_malformation_syndrome
MONDO:0019996	biolink:Disease	obsolete rare cardiac disease	OBSOLETE. Rare heart disease.	Orphanet:97929|UMLS:CN206932	mondo.json	rare heart disease	http://purl.obolibrary.org/obo/MONDO_0019996	UMLS:CN206932|Orphanet:97929	ordo_group_of_disorders|obsoletion_candidate|disease_grouping
MONDO:0019991	biolink:Disease	immunotactoid glomerulopathy	Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases.	ICD9:583.9|SCTID:73305009|Orphanet:97567|GARD:0012048|NCIT:C96182	mondo.json	Immunotactoid glomerulonephritis|FGN|fibrillary glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0019991	NCIT:C96182|http://identifiers.org/snomedct/73305009|Orphanet:97567	ordo_disease|gard_rare
MONDO:0019990	biolink:Disease	non-amyloid fibrillary glomerulopathy	Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG) are often grouped together as pathogenetically related diseases.	SCTID:718192000|Orphanet:97566|GARD:0012740|UMLS:C4273674	mondo.json	fibrillary glomerulonephritis|non-amyloid fibrillary glomerulonephritis|Congo red-negative amyloidosis-like glomerulopathy	http://purl.obolibrary.org/obo/MONDO_0019990	http://identifiers.org/snomedct/718192000|UMLS:C4273674|Orphanet:97566	ordo_disease
MONDO:0044907	biolink:Disease	metastatic squamous cell carcinoma	A squamous cell carcinoma which has spread from its original site of growth to another anatomic site.	UMLS:C0334246|SCTID:403906006|NCIT:C4104	mondo.json	Metastatic squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0044907	http://identifiers.org/snomedct/403906006|NCIT:C4104|UMLS:C0334246	
NCBITaxon:32341	biolink:OrganismalEntity	Sophophora		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_32341		
MONDO:0017330	biolink:Disease	malignancy diagnosed during pregnancy		Orphanet:289385|UMLS:CN227116	mondo.json	cancer diagnosed during pregnancy	http://purl.obolibrary.org/obo/MONDO_0017330	Orphanet:289385|UMLS:CN227116	ordo_clinical_situation
MONDO:0019993	biolink:Disease	congenital renal artery stenosis	A narrowing of renal arteries that is present since birth.	Orphanet:97598|SCTID:271432005|ICD10CM:Q27.1	mondo.json	congenital renovascular hypoplasia|congenital RAS	http://purl.obolibrary.org/obo/MONDO_0019993	http://identifiers.org/snomedct/271432005|Orphanet:97598|http://purl.bioontology.org/ontology/ICD10CM/Q27.1	ordo_disease
MONDO:0017331	biolink:Disease	Pilotto syndrome	Pilotto syndrome is a rare genetic multiple developmental anomalies syndrome, that is characterized by craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975.	MESH:C537400|Orphanet:2894|UMLS:C2931484|GARD:0004368	mondo.json	cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation|cleft lip and palate, congenital heart disease, scoliosis, short stature, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0017331	UMLS:C2931484|http://identifiers.org/mesh/C537400	ordo_malformation_syndrome|gard_rare
MONDO:0019992	biolink:Disease	pseudohypoparathyroidism	Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP).	UMLS:C0033806|Orphanet:97593|ICD10CM:E20.1|DOID:4184|GARD:0010758|ICD9:275.49|MESH:D011547|NCIT:C99027|MedDRA:10037126|SCTID:58976002	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019992	http://purl.bioontology.org/ontology/ICD10CM/E20.1|UMLS:C0033806|http://identifiers.org/snomedct/58976002|DOID:4184|NCIT:C99027|Orphanet:97593|http://identifiers.org/mesh/D011547	gard_rare|ordo_group_of_disorders|disease_grouping
OBO:ECTO_0000015	biolink:NamedThing	exposure to environmental material	A exposure event involving the interaction of an exposure receptor to environmental material.		mondo.json	environmental material exposure	http://purl.obolibrary.org/obo/ECTO_0000015		
MONDO:0032937	biolink:Disease	myopathy, congenital proximal, with minicore lesions		OMIM:618823	mondo.json	MYOPMIL|MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS	http://purl.obolibrary.org/obo/MONDO_0032937	https://omim.org/entry/618823	
MONDO:0032938	biolink:Disease	basal ganglia calcification, idiopathic, 8, autosomal recessive		OMIM:618824	mondo.json	IBGC8|BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE	http://purl.obolibrary.org/obo/MONDO_0032938	https://omim.org/entry/618824	
MONDO:0032935	biolink:Disease	rhizomelic limb shortening with dysmorphic features		OMIM:618821	mondo.json	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES|RLSDF	http://purl.obolibrary.org/obo/MONDO_0032935	https://omim.org/entry/618821	
MONDO:0032936	biolink:Disease	myopathy, congenital, with respiratory insufficiency and bone fractures		OMIM:618822	mondo.json	MYORIBF|MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES	http://purl.obolibrary.org/obo/MONDO_0032936	https://omim.org/entry/618822	
MONDO:0005358	biolink:Disease	Dengue hemorrhagic fever	A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death.	NCIT:C34683|SCTID:20927009|DOID:12206|EFO:0004227|ICD10CM:A91	mondo.json	DHF|Dengue haemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0005358	DOID:12206|http://identifiers.org/snomedct/20927009|http://purl.bioontology.org/ontology/ICD10CM/A91|NCIT:C34683	
MONDO:0032933	biolink:Disease	chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant		OMIM:618815	mondo.json	CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT	http://purl.obolibrary.org/obo/MONDO_0032933	https://omim.org/entry/618815	
MONDO:0005357	biolink:Disease	Creutzfeldt Jacob disease	A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease.	MESH:D007562|EFO:0004226|DOID:11949|NCIT:C26802|ICD9:046.1|ICD9:046.19|SCTID:792004|GARD:0006956	mondo.json	Subacute spongiform encephalopathy|transmissible virus dementia|CJD (Creutzfeldt Jakob disease)|classic Creutzfeldt-Jakob disease|Creutzfeldt Jakob disease|Creutzfeldt Jacob syndrome|Creutzfeldt-Jakob disease|CJD|Jakob-Creutzfeldt disease|Creutzfeldt-Jacob disease	http://purl.obolibrary.org/obo/MONDO_0005357	http://identifiers.org/mesh/D007562|NCIT:C26802|DOID:11949|http://identifiers.org/snomedct/792004	
MONDO:0032934	biolink:Disease	genitourinary and/or brain malformation syndrome		OMIM:618820	mondo.json	genitourinary and/or brain malformation syndrome|GUBS|GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME|genitourinary and/or/brain malformation syndrome	http://purl.obolibrary.org/obo/MONDO_0032934	https://omim.org/entry/618820	
MONDO:0032931	biolink:Disease	pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal		OMIM:618810|Orphanet:615954	mondo.json	Chromosome 1P36.33 Deletion Syndrome, Atad3 Gene Cluster, Autosomal Recessive|PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL|PHRINL|fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome|fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome|Phrinl Syndrome	http://purl.obolibrary.org/obo/MONDO_0032931	Orphanet:615954|https://omim.org/entry/618810	ordo_disorder
MONDO:0005359	biolink:Disease	drug-induced liver injury	A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to acute liver failure, caused by drugs, drug metabolites, and chemicals from the environment.	SCTID:197352008|MESH:D056486|EFO:0004228	mondo.json	drug-induced disorder of liver|drug induced hepatotoxicity	http://purl.obolibrary.org/obo/MONDO_0005359	http://identifiers.org/snomedct/197352008|http://identifiers.org/mesh/D056486	
MONDO:0032932	biolink:Disease	mitochondrial DNA depletion syndrome 18		OMIM:618811	mondo.json	MITOCHONDRIAL DNA DEPLETION SYNDROME 18|MTDPS18	http://purl.obolibrary.org/obo/MONDO_0032932	https://omim.org/entry/618811	
MONDO:0005354	biolink:Disease	chronic hepatitis C virus infection	Chronic form of hepatitis C infection.	EFO:0004220|ICD9:070.44|MESH:D019698	mondo.json	hepatitis C, chronic|hepatitis C infection, chronic|chronic Hepatitis C	http://purl.obolibrary.org/obo/MONDO_0005354	http://identifiers.org/mesh/D019698	
MONDO:0005353	biolink:Disease	obsolete marijuana dependence	OBSOLETE. The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning.		mondo.json		http://purl.obolibrary.org/obo/MONDO_0005353		
MONDO:0005356	biolink:Disease	coronary vasospasm	Sudden coronary artery smooth muscle contraction leading to lumen constriction and decreased blood flow.	ICD9:413.9|SCTID:23687008|MESH:D003329|EFO:0004225|DOID:11840|UMLS:C0010073	mondo.json	coronary artery vasospasm|coronary vasospasm|coronary artery spasm	http://purl.obolibrary.org/obo/MONDO_0005356	DOID:11840|http://identifiers.org/mesh/D003329|http://identifiers.org/snomedct/23687008|UMLS:C0010073	
MONDO:0020971	biolink:Disease	gonococcal urethritis	Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact.	SCTID:236682002|NCIT:C26787|UMLS:C0018078	mondo.json	gonococcal urethritis|Gonococcal urethritis|gc urethritis	http://purl.obolibrary.org/obo/MONDO_0020971	UMLS:C0018078|http://identifiers.org/snomedct/236682002|NCIT:C26787	
MONDO:0005355	biolink:Disease	coronary restenosis	Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction.	UMLS:C0948480|DOID:4247|MESH:D023903|EFO:0004224	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005355	http://identifiers.org/mesh/D023903|UMLS:C0948480|DOID:4247	
MONDO:0005350	biolink:Disease	abdominal aortic aneurysm	Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs.	UMLS:C0162871|SCTID:233985008|MESH:D017544|EFO:0004214|DOID:7693	mondo.json	aortic aneurysm, familial abdominal 1	http://purl.obolibrary.org/obo/MONDO_0005350	http://identifiers.org/mesh/D017544|DOID:7693|http://identifiers.org/snomedct/233985008|UMLS:C0162871	
CHR:9606-chr19q1	biolink:NamedThing	19q1 (Human)			mondo.json		http://purl.obolibrary.org/obo/CHR_9606-chr19q1		
MONDO:0032939	biolink:Disease	intellectual developmental disorder, autosomal dominant 63, with macrocephaly		OMIM:618825	mondo.json	Mental Retardation, Autosomal Dominant 63, With Macrocephaly|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY|MRD63	http://purl.obolibrary.org/obo/MONDO_0032939	https://omim.org/entry/618825	
MONDO:0005352	biolink:Disease	conduct disorder	A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period.	NCIT:C89329|EFO:0004216|DOID:12995|MESH:D019955|ICD9:312.9|SCTID:430909002|ICD9:312.89	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005352	http://identifiers.org/mesh/D019955|DOID:12995|NCIT:C89329|http://identifiers.org/snomedct/430909002	
MONDO:0005351	biolink:Disease	anorexia nervosa	A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea.	ICD10CM:F50.0|ICD9:307.1|SCTID:56882008|Orphanet:36297|MESH:D000856|DOID:8689|EFO:0004215|OMIM:610269|NCIT:C34387	mondo.json		http://purl.obolibrary.org/obo/MONDO_0005351	http://purl.bioontology.org/ontology/ICD10CM/F50.0|DOID:8689|NCIT:C34387|http://identifiers.org/snomedct/56882008|http://identifiers.org/mesh/D000856|Orphanet:36297	
MONDO:0044915	biolink:Disease	salivary duct carcinoma	An aggressive, high grade adenocarcinoma that arises from the salivary glands. It usually affects elderly males and presents as a rapidly enlarging mass. It metastasizes to regional lymph nodes and distant anatomic sites.	NCIT:C5904|UMLS:C1301194|ONCOTREE:SDCA	mondo.json	carcinoma of the salivary duct|high grade salivary duct carcinoma|carcinoma of salivary duct|carcinoma of duct of salivary gland|duct of salivary gland carcinoma|salivary duct carcinoma	http://purl.obolibrary.org/obo/MONDO_0044915	UMLS:C1301194|NCIT:C5904	
MONDO:0017329	biolink:Disease	familial vesicoureteral reflux	Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.	SCTID:763716008|OMIM:614674|Orphanet:289365|UMLS:CN202969|OMIMPS:193000	mondo.json	hereditary vesicoureteral reflux (disease)|familial VUR	http://purl.obolibrary.org/obo/MONDO_0017329	Orphanet:289365|https://omim.org/phenotypicSeries/PS193000|http://identifiers.org/snomedct/763716008|UMLS:CN202969	ordo_malformation_syndrome
FOODON:00003004	biolink:NamedThing	animal	A multicellular eukaryotic heterotrophic organism within the kingdom Animalia.		mondo.json		http://purl.obolibrary.org/obo/FOODON_00003004		
MONDO:0044917	biolink:Disease	T-lymphoblastic lymphoma	The most frequent type of lymphoblastic lymphoma. It comprises approximately 85-90% of cases. It is more frequently seen in adolescent males. It frequently presents with a mass lesion in the mediastinum. Pleural effusions are common. (WHO, 2001)	NCIT:C6919|SCTID:421246008|EFO:1001830	mondo.json	precursor T-lymphoblastic lymphoma|precursor T-Lymphoblastic lymphoma|precursor T-cell Lymphoblastic lymphoma|T Lymphoblastic lymphoma|T-Lymphoblastic lymphoma|T-lymphoblastic lymphoma|Precur. T-lymphoblastic lymphoma|precursor T Lymphoblastic lymphoma	http://purl.obolibrary.org/obo/MONDO_0044917	NCIT:C6919|http://identifiers.org/snomedct/421246008	
MONDO:0044916	biolink:Disease	extrarenal rhabdoid tumor	A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm.	NCIT:C6586|SCTID:404089007|UMLS:C1304517	mondo.json	malignant extrarenal rhabdoid neoplasm|rhabdoid tumor of soft tissue|extrarenal rhabdoid tumor	http://purl.obolibrary.org/obo/MONDO_0044916	NCIT:C6586|http://identifiers.org/snomedct/404089007|UMLS:C1304517	
MONDO:0017325	biolink:Disease	early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.	OMIM:613971|Orphanet:289266	mondo.json	early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	http://purl.obolibrary.org/obo/MONDO_0017325	Orphanet:289266	ordo_disease
MONDO:0019988	biolink:Disease	pauci-immune glomerulonephritis with ANCA	Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis, and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated.	Orphanet:97563|UMLS:CN206923	mondo.json	pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody	http://purl.obolibrary.org/obo/MONDO_0019988	Orphanet:97563|UMLS:CN206923	ordo_clinical_subtype
MONDO:0019987	biolink:Disease	obsolete congenital and infantile nephrotic syndrome		Orphanet:97556	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019987	Orphanet:97556	disease_grouping|ordo_group_of_disorders
MONDO:0017326	biolink:Disease	infective dermatitis associated with HTLV-1	A rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis.	Orphanet:289347|NCIT:C129260|UMLS:CN202966	mondo.json	isocitrate dehydrogenase Gene family|infective dermatitis associated with human T-lymphotropic virus type 1|IDH|infective dermatitis associated with human T-lymphotropic virus type I|IDH Gene family	http://purl.obolibrary.org/obo/MONDO_0017326	Orphanet:289347|NCIT:C129260|UMLS:CN202966	ordo_disease
MONDO:0017327	biolink:Disease	primary non-gestational choriocarcinoma of ovary	Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor, arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma and hence should be distinguished from the latter by DNA polymorphism.	Orphanet:289356|UMLS:C4274424|SCTID:716588005|UMLS:CN202967	mondo.json	primary non-gestational ovarian choriocarcinoma|NGCO	http://purl.obolibrary.org/obo/MONDO_0017327	Orphanet:289356|UMLS:C4274424|http://identifiers.org/snomedct/716588005|UMLS:CN202967	ordo_disease
MONDO:0044913	biolink:Disease	metastatic malignant neoplasm in the eye	A malignant neoplasm that has spread to the eye from another anatomic site.	SCTID:94292003|UMLS:C0347019|NCIT:C4586	mondo.json	Metastatic malignant neoplasm in the eye|eye metastasis|metastasis to the eye|Metastatic tumor to the eye|metastasis to eye|Metastatic neoplasm to the eye|Metastatic malignant neoplasm to the eye|Metastases to the eye|Metastases to eye	http://purl.obolibrary.org/obo/MONDO_0044913	UMLS:C0347019|NCIT:C4586|http://identifiers.org/snomedct/94292003	
MONDO:0019989	biolink:Disease	pauci-immune glomerulonephritis without ANCA	Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer.	Orphanet:97564	mondo.json	pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody|antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0019989	Orphanet:97564	ordo_clinical_subtype
MONDO:0044912	biolink:Disease	metastatic malignant neoplasm in the spinal cord	A malignant neoplasm that has spread to the spinal cord from another anatomic site or system. Representative examples include carcinoma, lymphoma, and melanoma.	SCTID:94600009|UMLS:C0347016|NCIT:C4585	mondo.json	Metastatic malignant neoplasm in the spinal cord|Metastatic tumor to the spinal cord|Secondary malignant tumor to the spinal cord|metastasis to spinal cord|Secondary malignant neoplasm to the spinal cord|Metastatic neoplasm to the spinal cord|Metastatic malignant neoplasm to the spinal cord	http://purl.obolibrary.org/obo/MONDO_0044912	UMLS:C0347016|NCIT:C4585|http://identifiers.org/snomedct/94600009	
MONDO:0017328	biolink:Disease	non-central nervous system-localized embryonal carcinoma		Orphanet:289362|UMLS:CN202968	mondo.json	non-CNS-localized embryonal carcinoma	http://purl.obolibrary.org/obo/MONDO_0017328	Orphanet:289362|UMLS:CN202968	ordo_clinical_subtype
MONDO:0032940	biolink:Disease	retinitis pigmentosa 88		OMIM:618826	mondo.json	RP88|RETINITIS PIGMENTOSA 88	http://purl.obolibrary.org/obo/MONDO_0032940	https://omim.org/entry/618826	
MONDO:0019984	biolink:Disease	renal tubular dysgenesis due to twin-twin transfusion	An acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).	Orphanet:97367|UMLS:CN206914	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019984	UMLS:CN206914|Orphanet:97367	ordo_etiological_subtype
MONDO:0017321	biolink:Disease	pili torti-onychodysplasia syndrome	Pili torti-onychodysplasia is a form of ectodermal dysplasia characterised by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive.	UMLS:C2931483|Orphanet:2890	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017321	UMLS:C2931483|Orphanet:2890	ordo_malformation_syndrome
MONDO:0019983	biolink:Disease	multiloculated renal cyst		Orphanet:97366|SCTID:86463003	mondo.json	multilocular cyst of the kidney|multilocular renal cyst	http://purl.obolibrary.org/obo/MONDO_0019983	http://identifiers.org/snomedct/86463003|Orphanet:97366	ordo_morphological_anomaly
MONDO:0017322	biolink:Disease	disorders of vitamin D metabolism		Orphanet:289098|UMLS:CN202954	mondo.json		http://purl.obolibrary.org/obo/MONDO_0017322	Orphanet:289098|UMLS:CN202954	ordo_group_of_disorders|disease_grouping
MONDO:0032941	biolink:Disease	myopia 27		OMIM:618827	mondo.json	MYP27|MYOPIA 27	http://purl.obolibrary.org/obo/MONDO_0032941	https://omim.org/entry/618827	
MONDO:0019986	biolink:Disease	sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy		Orphanet:97555|UMLS:CN206920	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019986	Orphanet:97555|UMLS:CN206920	ordo_histopathological_subtype
MONDO:0017323	biolink:Disease	hypocalcemic rickets	Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR).	UMLS:C4302195|Orphanet:289103|SCTID:722947004|UMLS:C4329608|NCIT:C131421	mondo.json	calcium deficiency rickets|Calciopenic rickets	http://purl.obolibrary.org/obo/MONDO_0017323	NCIT:C131421|UMLS:C4302195|Orphanet:289103|http://identifiers.org/snomedct/722947004|UMLS:C4329608	ordo_group_of_disorders|disease_grouping
MONDO:0019985	biolink:Disease	drug-related renal tubular dysgenesis		Orphanet:97368	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019985	Orphanet:97368	ordo_etiological_subtype
MONDO:0017324	biolink:Disease	autosomal recessive hypophosphatemic rickets	Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.	Orphanet:289176|DOID:0050949|UMLS:CN202957|ICD10CM:E83.3|SCTID:90505000	mondo.json	hypophosphatemic rickets, autosomal recessive|autosomal recessive hereditary hypophosphatemic rickets|ARHR|hereditary hypophosphatemic rickets, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0017324	DOID:0050949|Orphanet:289176|http://identifiers.org/snomedct/90505000|UMLS:CN202957	ordo_disease
MONDO:0044919	biolink:Disease	malignant renal pelvis neoplasm	A primary or metastatic malignant neoplasm that affects the renal pelvis.	NCIT:C7525	mondo.json	malignant tumor of the renal pelvis|malignant neoplasm of renal pelvis|renal pelvis cancer|malignant renal pelvis neoplasm|malignant renal pelvis tumor|malignant neoplasm of the renal pelvis|cancer of renal pelvis|malignant tumor of renal pelvis	http://purl.obolibrary.org/obo/MONDO_0044919	NCIT:C7525	
MONDO:0019980	biolink:Disease	renal hypoplasia, bilateral	Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present.	ICD10CM:Q60.4|Orphanet:97362|SCTID:268232000	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019980	http://identifiers.org/snomedct/268232000|http://purl.bioontology.org/ontology/ICD10CM/Q60.4|Orphanet:97362	ordo_clinical_subtype
HGNC:13013	biolink:NamedThing	KAT6A			mondo.json		http://identifiers.org/hgnc/13013		
MONDO:0019982	biolink:Disease	bilateral multicystic dysplastic kidney	Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional.	Orphanet:97364|SCTID:717749002|GARD:0009517	mondo.json	MRD|Pelvi-ureteric junction obstruction|bilateral multicystic renal dysplasia|PUJO|bilateral MCDK	http://purl.obolibrary.org/obo/MONDO_0019982	http://identifiers.org/snomedct/717749002|Orphanet:97364	ordo_clinical_subtype
MONDO:0017320	biolink:Disease	phosphoenolpyruvate carboxykinase deficiency	Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.	MESH:C536654|UMLS:C0268194|Orphanet:2880|NCIT:C99015|SCTID:5335002|ICD9:277.89	mondo.json	PEPCK deficiency|phosphoenolpyruvate carboxykinase (GTP) deficiency	http://purl.obolibrary.org/obo/MONDO_0017320	UMLS:C0268194|http://identifiers.org/snomedct/5335002|Orphanet:2880|NCIT:C99015|http://identifiers.org/mesh/C536654	ordo_disease
MONDO:0019981	biolink:Disease	unilateral multicystic dysplastic kidney	Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional.	Orphanet:97363	mondo.json	unilateral MCDK|unilateral multicystic renal dysplasia	http://purl.obolibrary.org/obo/MONDO_0019981	Orphanet:97363	ordo_clinical_subtype
HGNC:15672	biolink:NamedThing	ALG9			mondo.json		http://identifiers.org/hgnc/15672		
MONDO:0007904	biolink:Disease	median nodule of the upper lip	Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion.	SCTID:722034006|UMLS:C1835396|GARD:0003440|OMIM:151630|Orphanet:2699	mondo.json	LIP, MEDIAN NODULE of upper	http://purl.obolibrary.org/obo/MONDO_0007904	UMLS:C1835396|http://identifiers.org/snomedct/722034006|Orphanet:2699|https://omim.org/entry/151630	ordo_malformation_syndrome|gard_rare
GO:0044262	biolink:NamedThing	cellular carbohydrate metabolic process	The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells.		mondo.json	cellular carbohydrate metabolism|main pathways of carbohydrate metabolic process|main pathways of carbohydrate metabolism	http://purl.obolibrary.org/obo/GO_0044262		
MONDO:0007905	biolink:Disease	lip, hamartomatous		UMLS:C1835395|OMIM:151640|MESH:C563621	mondo.json	lip, hamartomatous|enlargement of Lower lip	http://purl.obolibrary.org/obo/MONDO_0007905	http://identifiers.org/mesh/C563621|UMLS:C1835395|https://omim.org/entry/151640	
MONDO:0007902	biolink:Disease	lichen planus, familial	An instance of lichen planus that is caused by an inherited modification of the individual's genome.	UMLS:C1835402|OMIM:151620|MESH:C563624	mondo.json	hereditary lichen planus|lichen planus, familial	http://purl.obolibrary.org/obo/MONDO_0007902	http://identifiers.org/mesh/C563624|UMLS:C1835402|https://omim.org/entry/151620	
GO:0010927	biolink:NamedThing	cellular component assembly involved in morphogenesis	The cellular component assembly that is part of the initial shaping of the component during its developmental progression.		mondo.json		http://purl.obolibrary.org/obo/GO_0010927		
MONDO:0007903	biolink:Disease	Li-Fraumeni syndrome 1	Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the TP53 gene.	DOID:0111503|OMIM:151623|UMLS:C1836481|UMLS:C1835398|OMIM:609266|MESH:C563754	mondo.json	Li-Fraumeni syndrome 3|Li-Fraumeni-like syndrome|LFS1|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|Sbla syndrome|Li-Fraumeni syndrome caused by mutation in TP53|sarcoma family syndrome of 51 and Fraumeni|LFS|Li-Fraumeni syndrome type 1|LFS3|TP53 Li-Fraumeni syndrome	http://purl.obolibrary.org/obo/MONDO_0007903	DOID:0111503|UMLS:C1836481|https://omim.org/entry/609266|http://identifiers.org/mesh/C563754|UMLS:C1835398|https://omim.org/entry/151623	clingen
GO:0044260	biolink:NamedThing	cellular macromolecule metabolic process	The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, as carried out by individual cells.		mondo.json	cellular biopolymer metabolic process|cellular macromolecule metabolism	http://purl.obolibrary.org/obo/GO_0044260		
MONDO:0007900	biolink:Disease	nonsyndromic congenital nail disorder 3	Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene.	MESH:C537289|OMIM:151600|SCTID:74102009|DOID:0080081|Orphanet:2387|ICD9:703.8|GARD:0002555	mondo.json	leukonychia Striatus|leukonychia totalis and/or partialis|leukonychia totalis multiple sebaceous cysts renal calculi|Gorlin Bushkell Jensen syndrome|NDNC3|PLCD1 inherited isolated nail anomaly|nail disorder, nonsyndromic congenital, type 3|leukonychia punctata|porcelain nails|inherited isolated nail anomaly caused by mutation in PLCD1|nail disorder, nonsyndromic congenital, 3, (leukonychia)|nail disorder, nonsyndromic congenital, 3|nonsyndromic congenital nail disorder type 3	http://purl.obolibrary.org/obo/MONDO_0007900	http://identifiers.org/snomedct/74102009|DOID:0080081|http://identifiers.org/mesh/C537289|https://omim.org/entry/151600	gard_rare
UBERON:0002119	biolink:AnatomicalEntity	left ovary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002119		
MONDO:0007901	biolink:Disease	levator-medial rectus synkinesis		UMLS:C1835403|OMIM:151610|MESH:C563625	mondo.json	oculomotor-levator synkinesis|levator-medial rectus synkinesis	http://purl.obolibrary.org/obo/MONDO_0007901	http://identifiers.org/mesh/C563625|UMLS:C1835403|https://omim.org/entry/151610	
UBERON:0002118	biolink:AnatomicalEntity	right ovary			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002118		
GO:0010921	biolink:NamedThing	regulation of phosphatase activity	Any process that modulates the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate.		mondo.json		http://purl.obolibrary.org/obo/GO_0010921		
GO:0010922	biolink:NamedThing	positive regulation of phosphatase activity	Any process that increases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate.		mondo.json		http://purl.obolibrary.org/obo/GO_0010922		
GO:0044267	biolink:NamedThing				mondo.json		http://purl.obolibrary.org/obo/GO_0044267		
UBERON:2000364	biolink:AnatomicalEntity	hypural			mondo.json		http://purl.obolibrary.org/obo/UBERON_2000364		
GO:0010923	biolink:NamedThing	negative regulation of phosphatase activity	Any process that decreases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate.		mondo.json		http://purl.obolibrary.org/obo/GO_0010923		
GO:0044264	biolink:NamedThing	cellular polysaccharide metabolic process	The chemical reactions and pathways involving polysaccharides, polymers of more than 10 monosaccharide residues joined by glycosidic linkages, as carried out by individual cells.		mondo.json	cellular polysaccharide metabolism|cellular glycan metabolism|cellular glycan metabolic process	http://purl.obolibrary.org/obo/GO_0044264		
UBERON:0004781	biolink:AnatomicalEntity	gall bladder lamina propria			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004781		
UBERON:0004782	biolink:AnatomicalEntity	gastrointestinal system serosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004782		
UBERON:0002120	biolink:AnatomicalEntity	pronephros			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002120		
UBERON:0004780	biolink:AnatomicalEntity	gastrointestinal system lamina propria			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004780		
HGNC:15646	biolink:NamedThing	KLHL7			mondo.json		http://identifiers.org/hgnc/15646		
UBERON:0004789	biolink:AnatomicalEntity	larynx mucous gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004789		
UBERON:0002125	biolink:AnatomicalEntity	thymus lobule			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002125		
UBERON:0002128	biolink:AnatomicalEntity	superior olivary complex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002128		
UBERON:0004787	biolink:AnatomicalEntity	urethra urothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004787		
HGNC:2950	biolink:NamedThing	DNAH5			mondo.json		http://identifiers.org/hgnc/2950		
UBERON:0004788	biolink:AnatomicalEntity	kidney pelvis urothelium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004788		
UBERON:0004785	biolink:AnatomicalEntity	respiratory system mucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004785		
UBERON:0002122	biolink:AnatomicalEntity	capsule of thymus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002122		
UBERON:0004786	biolink:AnatomicalEntity	gastrointestinal system mucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004786		
UBERON:0002124	biolink:AnatomicalEntity	medulla of thymus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002124		
UBERON:0004783	biolink:AnatomicalEntity	gall bladder serosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004783		
UBERON:0004784	biolink:AnatomicalEntity	heart ventricle wall			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004784		
UBERON:0002123	biolink:AnatomicalEntity	cortex of thymus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002123		
MONDO:0007915	biolink:Disease	systemic lupus erythematosus	An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific.	ICD9:710.0|Orphanet:536|MESH:D008180|SCTID:55464009|OMIM:152700|KEGG:05322|EFO:0002690|DOID:9074|HP:0002725|NCIT:C3201	mondo.json	systemic lupus erythematosus, susceptibility to|systemic lupus erythematosus|lupus erythematosus, systemic|lupus nephritis, susceptibility to|systemic lupus erythematosus susceptibility to|systemic lupus erythematosus (disease)|SLE|SLE - lupus erythematosus, systemic|excess LMW-DNA|disseminated lupus erythematosus|excess lymphocyte low molecular weight DNA	http://purl.obolibrary.org/obo/MONDO_0007915	DOID:9074|NCIT:C3201|http://identifiers.org/snomedct/55464009|http://identifiers.org/mesh/D008180|https://omim.org/entry/152700|Orphanet:536	ordo_disease
GO:0044272	biolink:NamedThing	sulfur compound biosynthetic process	The chemical reactions and pathways resulting in the formation of compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione.		mondo.json	sulfur compound biosynthesis|sulfur compound anabolism|sulfur biosynthesis|sulfur biosynthetic process|sulfur compound synthesis|sulfur compound formation	http://purl.obolibrary.org/obo/GO_0044272		
MONDO:0007916	biolink:Disease	primary intestinal lymphangiectasia	Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children.	UMLS:C0267372|Orphanet:90362|OMIM:152800|UMLS:CN206410|SCTID:6124009|GARD:0007873|ICD9:457.1	mondo.json	Waldmann's disease|familial Waldmann's disease (type)|primary intestinal lymphangiectasis|Waldmann disease|lymphangiectasia, intestinal	http://purl.obolibrary.org/obo/MONDO_0007916	UMLS:CN206410|UMLS:C0267372|Orphanet:90362|https://omim.org/entry/152800|http://identifiers.org/snomedct/6124009	gard_rare|ordo_disease
GO:0044273	biolink:NamedThing	sulfur compound catabolic process	The chemical reactions and pathways resulting in the breakdown of compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione.		mondo.json	sulfur compound catabolism|sulfur catabolic process|sulfur catabolism|sulfur compound degradation|sulfur compound breakdown	http://purl.obolibrary.org/obo/GO_0044273		
MONDO:0007913	biolink:Disease	low density lipoprotein, variation in molecular weight of		OMIM:152450	mondo.json	LOW density lipoprotein, variation in molecular weight OF	http://purl.obolibrary.org/obo/MONDO_0007913	https://omim.org/entry/152450	
GO:0044270	biolink:NamedThing	cellular nitrogen compound catabolic process	The chemical reactions and pathways resulting in the breakdown of organic and inorganic nitrogenous compounds.		mondo.json	nitrogen compound degradation|nitrogen compound breakdown|nitrogen compound catabolism	http://purl.obolibrary.org/obo/GO_0044270		
HGNC:2959	biolink:NamedThing	DNASE1L3			mondo.json		http://identifiers.org/hgnc/2959		
MONDO:0007914	biolink:Disease	lumbar stenosis, familial		UMLS:C1835320|MESH:C563613|OMIM:152550	mondo.json	lumbar stenosis, familial	http://purl.obolibrary.org/obo/MONDO_0007914	http://identifiers.org/mesh/C563613|UMLS:C1835320|https://omim.org/entry/152550	
GO:0044271	biolink:NamedThing	cellular nitrogen compound biosynthetic process	The chemical reactions and pathways resulting in the formation of organic and inorganic nitrogenous compounds.		mondo.json	nitrogen compound biosynthesis|nitrogen compound anabolism|nitrogen compound synthesis|nitrogen compound formation	http://purl.obolibrary.org/obo/GO_0044271		
MONDO:0007911	biolink:Disease	lipoprotein, variant of beta		OMIM:152400	mondo.json	lipoprotein, variant of beta|Beta-lipoprotein, Double	http://purl.obolibrary.org/obo/MONDO_0007911	https://omim.org/entry/152400	
UBERON:0002108	biolink:AnatomicalEntity	small intestine			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002108		
MONDO:0007912	biolink:Disease	lithium transport		OMIM:152420	mondo.json	lithium transport	http://purl.obolibrary.org/obo/MONDO_0007912	https://omim.org/entry/152420	
UBERON:0002107	biolink:AnatomicalEntity	liver			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002107		
HGNC:2956	biolink:NamedThing	DNASE1			mondo.json		http://identifiers.org/hgnc/2956		
HGNC:2955	biolink:NamedThing	DNAL4			mondo.json		http://identifiers.org/hgnc/2955		
UBERON:0004769	biolink:AnatomicalEntity	diaphysis			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004769		
MONDO:0007910	biolink:Disease	lipoprotein types--Lt system		OMIM:152300|UMLS:C1835359	mondo.json	lipoprotein types--Lt system	http://purl.obolibrary.org/obo/MONDO_0007910	UMLS:C1835359|https://omim.org/entry/152300	
HGNC:2954	biolink:NamedThing	DNAI1			mondo.json		http://identifiers.org/hgnc/2954		
UBERON:0002109	biolink:AnatomicalEntity	pair of nares			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002109		
GO:0044275	biolink:NamedThing	cellular carbohydrate catabolic process	The chemical reactions and pathways resulting in the breakdown of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells.		mondo.json	cellular carbohydrate degradation|cellular carbohydrate breakdown|cellular carbohydrate catabolism	http://purl.obolibrary.org/obo/GO_0044275		
UBERON:0004770	biolink:AnatomicalEntity	articular system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004770		
UBERON:0004771	biolink:AnatomicalEntity	posterior nasal aperture			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004771		
CHEBI:35544	biolink:ChemicalSubstance	EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitor	A compound or agent that combines with cyclooxygenases (EC 1.14.99.1) and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of icosanoids, prostaglandins, and thromboxanes.		mondo.json	(PG)H synthase inhibitors|EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitors|prostaglandin synthetase inhibitor|prostaglandin endoperoxide synthetase inhibitor|fatty acid cyclooxygenase inhibitor|prostaglandin G/H synthase inhibitor|cyclooxygenase inhibitor|prostaglandin synthase inhibitor|PG synthetase inhibitor|(5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate,hydrogen-donor:oxygen oxidoreductase inhibitor|EC 1.14.99.1 (cyclooxygenase) inhibitors|cyclooxygenase (EC 1.14.99.1) inhibitors|EC 1.14.99.1 inhibitors|cyclooxygenase (EC 1.14.99.1) inhibitor|EC 1.14.99.1 inhibitor|EC 1.14.99.1 (cyclooxygenase) inhibitor|(5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate,hydrogen-donor:oxygen oxidoreductase inhibitors|PG synthetase inhibitors|COX inhibitor|prostaglandin G/H synthase inhibitors|prostaglandin synthase inhibitors|cyclooxygenase inhibitors|fatty acid cyclooxygenase inhibitors|prostaglandin synthetase inhibitors|prostaglandin endoperoxide synthetase inhibitors|(PG)H synthase inhibitor	http://purl.obolibrary.org/obo/CHEBI_35544		
GO:0140053	biolink:NamedThing	mitochondrial gene expression	The process in which a mitochondrial gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form.		mondo.json		http://purl.obolibrary.org/obo/GO_0140053		
GO:0140056	biolink:NamedThing	organelle localization by membrane tethering	The process by which an organelle membrane interacts with another membrane via molecular tethers that physically bridge the two membranes and attach them to each other.		mondo.json		http://purl.obolibrary.org/obo/GO_0140056		
CHEBI:35545	biolink:ChemicalSubstance	bipyridine			mondo.json	Bipyridin|bipyridyl|bipyridine	http://purl.obolibrary.org/obo/CHEBI_35545		
UBERON:0002115	biolink:AnatomicalEntity	jejunum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002115		
UBERON:0004778	biolink:AnatomicalEntity	larynx submucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004778		
UBERON:0002114	biolink:AnatomicalEntity	duodenum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002114		
UBERON:0004779	biolink:AnatomicalEntity	respiratory system lamina propria			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004779		
HGNC:2961	biolink:NamedThing	DYNC1H1			mondo.json		http://identifiers.org/hgnc/2961		
UBERON:0002116	biolink:AnatomicalEntity	ileum			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002116		
UBERON:0004777	biolink:AnatomicalEntity	respiratory system submucosa			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004777		
MONDO:0007908	biolink:Disease	multiple symmetric lipomatosis	Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).	GARD:0006957|OMIM:151800|NCIT:C4392|Orphanet:2398|EFO:1000737|DOID:14116|UMLS:C0023804|UMLS:C0024445|SCTID:238902007|UMLS:CN201658	mondo.json	Launois-Bensaude lipomatosis|Launois-Bensaude's lipomatosis|benign symmetrical lipomatosis|familial symmetric lipomatosis|Madelung's neck|lipodystrophy, cephalothoracic|cephalothoracic lipodystrophy|multiple symmetrical lipomatosis|multiple symmetric lipomatosis|MSL|cervical symmetrical lipomatosis|Launois-Bensaude syndrome|Madelung disease|Madelung's disease|familial benign cervical lipomatosis|lipomatosis, familial benign cervical|lipomatosis, multiple symmetric	http://purl.obolibrary.org/obo/MONDO_0007908	DOID:14116|https://omim.org/entry/151800|UMLS:C0023804|http://identifiers.org/snomedct/238902007|NCIT:C4392|Orphanet:2398|UMLS:CN201658	gard_rare|ordo_disease
UBERON:0002111	biolink:AnatomicalEntity	artery smooth muscle tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002111		
UBERON:0004774	biolink:AnatomicalEntity	inferior eyelid tarsus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004774		
UBERON:0002110	biolink:AnatomicalEntity	gall bladder			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002110		
MONDO:0007909	biolink:Disease	familial multiple lipomatosis	Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported.	MESH:D000071070|SCTID:766888002|OMIM:151900|ICD9:214.8|Orphanet:199276|ICD9:214.9|GARD:0012925	mondo.json	lipomatosis, multiple|lipoma|lipomatosis, familial multiple	http://purl.obolibrary.org/obo/MONDO_0007909	http://identifiers.org/mesh/D000071070|https://omim.org/entry/151900|Orphanet:199276|http://identifiers.org/snomedct/766888002	ordo_disease
MONDO:0007906	biolink:Disease	familial partial lipodystrophy, Dunnigan type	Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.	SCTID:715439000|GARD:0003126|GARD:3126|OMIM:151660|Orphanet:2348|DOID:0070202	mondo.json	FPL2|reverse partial lipodystrophy|lipodystrophy, familial, of limbs and Lower trunk|Dunnigan syndrome|lipodystrophy, reverse partial|familial lipodystrophy of limbs and lower trunk|familial partial lipodystrophy Dunnigan type|lipodystrophy, familial partial, Dunnigan type|familial partial lipodystrophy type 2|FPLD2|lipodystrophy, familial partial, type 2	http://purl.obolibrary.org/obo/MONDO_0007906	https://omim.org/entry/151660|DOID:0070202|http://identifiers.org/snomedct/715439000|Orphanet:2348	ordo_disease
UBERON:0002113	biolink:AnatomicalEntity	kidney			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002113		
UBERON:0004772	biolink:AnatomicalEntity	eyelid tarsus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004772		
MONDO:0007907	biolink:Disease	lipoma of the conjunctiva		OMIM:151700|UMLS:C1835373|MESH:C563620	mondo.json	lipoma of the conjunctiva	http://purl.obolibrary.org/obo/MONDO_0007907	https://omim.org/entry/151700|http://identifiers.org/mesh/C563620|UMLS:C1835373	
UBERON:0004773	biolink:AnatomicalEntity	superior eyelid tarsus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004773		
UBERON:0002112	biolink:AnatomicalEntity	smooth muscle of esophagus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002112		
GO:0010907	biolink:NamedThing	positive regulation of glucose metabolic process	Any process that increases the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose.		mondo.json	positive regulation of glucose metabolism	http://purl.obolibrary.org/obo/GO_0010907		
GO:0044283	biolink:NamedThing	small molecule biosynthetic process	The chemical reactions and pathways resulting in the formation of small molecules, any low molecular weight, monomeric, non-encoded molecule.		mondo.json	small molecule biosynthesis	http://purl.obolibrary.org/obo/GO_0044283		
GO:0044281	biolink:NamedThing	small molecule metabolic process	The chemical reactions and pathways involving small molecules, any low molecular weight, monomeric, non-encoded molecule.		mondo.json	small molecule metabolism	http://purl.obolibrary.org/obo/GO_0044281		
GO:0010906	biolink:NamedThing	regulation of glucose metabolic process	Any process that modulates the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose.		mondo.json	regulation of glucose metabolism	http://purl.obolibrary.org/obo/GO_0010906		
GO:0044282	biolink:NamedThing	small molecule catabolic process	The chemical reactions and pathways resulting in the breakdown of small molecules, any low molecular weight, monomeric, non-encoded molecule.		mondo.json	small molecule catabolism	http://purl.obolibrary.org/obo/GO_0044282		
CHEBI:35519	biolink:ChemicalSubstance	cholane			mondo.json	cholane	http://purl.obolibrary.org/obo/CHEBI_35519		
HGNC:15626	biolink:NamedThing	FCGR2C			mondo.json		http://identifiers.org/hgnc/15626		
UBERON:0004760	biolink:AnatomicalEntity	gland of anal canal			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004760		
HGNC:15625	biolink:NamedThing	NBAS			mondo.json		http://identifiers.org/hgnc/15625		
UBERON:0002104	biolink:AnatomicalEntity	visual system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002104		
HGNC:2974	biolink:NamedThing	DNM2			mondo.json		http://identifiers.org/hgnc/2974		
UBERON:0002103	biolink:AnatomicalEntity	hindlimb			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002103		
UBERON:0004768	biolink:AnatomicalEntity	bone of lower jaw			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004768		
UBERON:0002106	biolink:AnatomicalEntity	spleen			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002106		
HGNC:2973	biolink:NamedThing	DNM1L			mondo.json		http://identifiers.org/hgnc/2973		
UBERON:0004765	biolink:AnatomicalEntity	skeletal element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004765		
HGNC:2972	biolink:NamedThing	DNM1			mondo.json		http://identifiers.org/hgnc/2972		
UBERON:0004766	biolink:AnatomicalEntity	cranial bone			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004766		
GO:0009913	biolink:NamedThing	epidermal cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of an epidermal cell, any of the cells making up the epidermis.		mondo.json	hypodermal cell differentiation	http://purl.obolibrary.org/obo/GO_0009913		
UBERON:0002105	biolink:AnatomicalEntity	vestibulo-auditory system			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002105		
GO:0009914	biolink:NamedThing	hormone transport	The directed movement of hormones into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.		mondo.json		http://purl.obolibrary.org/obo/GO_0009914		
UBERON:0002100	biolink:AnatomicalEntity	trunk			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002100		
UBERON:0004764	biolink:AnatomicalEntity	intramembranous bone tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004764		
UBERON:0002102	biolink:AnatomicalEntity	forelimb			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002102		
UBERON:0004761	biolink:AnatomicalEntity	cartilaginous neurocranium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004761		
UBERON:0002101	biolink:AnatomicalEntity	limb			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002101		
HGNC:2979	biolink:NamedThing	DNMT3B			mondo.json		http://identifiers.org/hgnc/2979		
HGNC:2978	biolink:NamedThing	DNMT3A			mondo.json		http://identifiers.org/hgnc/2978		
HGNC:2976	biolink:NamedThing	DNMT1			mondo.json		http://identifiers.org/hgnc/2976		
GO:0010911	biolink:NamedThing	regulation of isomerase activity	Any process that modulates the activity of an isomerase. An isomerase catalyzes the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5.		mondo.json		http://purl.obolibrary.org/obo/GO_0010911		
GO:0010912	biolink:NamedThing	positive regulation of isomerase activity	Any process that increases the activity of an isomerase. An isomerase catalyzes the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5.		mondo.json		http://purl.obolibrary.org/obo/GO_0010912		
GO:0044297	biolink:NamedThing	cell body	The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections.		mondo.json	cell soma	http://purl.obolibrary.org/obo/GO_0044297		
CHEBI:35524	biolink:ChemicalSubstance	sympathomimetic agent	A drug that mimics the effects of stimulating postganglionic adrenergic sympathetic nerves. Included in this class are drugs that directly stimulate adrenergic receptors and drugs that act indirectly by provoking the release of adrenergic transmitters.		mondo.json	sympathomimetics|sympathomimetic	http://purl.obolibrary.org/obo/CHEBI_35524		
CHEBI:35523	biolink:ChemicalSubstance	bronchodilator agent	An agent that causes an increase in the expansion of a bronchus or bronchial tubes.		mondo.json	bronchodilator|bronchodilator agents|broncholytic agent	http://purl.obolibrary.org/obo/CHEBI_35523		
UBERON:0004756	biolink:AnatomicalEntity	dermal skeletal element			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004756		
UBERON:0004755	biolink:AnatomicalEntity	skeletal tissue			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004755		
UBERON:0004753	biolink:AnatomicalEntity	scapulocoracoid			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004753		
NCBITaxon:1653394	biolink:OrganismalEntity	Mammarenavirus		GC_ID:1	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_1653394		
MONDO:0007948	biolink:Disease	marfanoid hypermobility syndrome		OMIM:154750|UMLS:C0268365|MESH:C531742|GARD:0003387	mondo.json	marfanoid hypermobility syndrome	http://purl.obolibrary.org/obo/MONDO_0007948	UMLS:C0268365|http://identifiers.org/mesh/C531742|https://omim.org/entry/154750	gard_rare
MONDO:0007949	biolink:Disease	Marshall syndrome	Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.	DOID:0111510|ICD9:759.89|SCTID:33410002|UMLS:C0265235|NCIT:C128115|OMIM:154780|Orphanet:560|GARD:0006984|MESH:C536025	mondo.json	Marshall syndrome|MRSHS|deafness, myopia, cataract, saddle nose-Marshall type	http://purl.obolibrary.org/obo/MONDO_0007949	https://omim.org/entry/154780|http://identifiers.org/snomedct/33410002|http://identifiers.org/mesh/C536025|UMLS:C0265235|NCIT:C128115|Orphanet:560|DOID:0111510	ordo_malformation_syndrome
MONDO:0007946	biolink:Disease	jaw-winking syndrome	Marcus-Gunn syndrome is characterised by ptosis associated with maxillopalpebral synkinesis.	Orphanet:91412|ICD9:374.43|DOID:560|MESH:C535908|SCTID:5127009|OMIM:154600|MedDRA:10064583|UMLS:C0266521|ICD9:742.8|GARD:0006972	mondo.json	mandibulo-palpebral synkinesis-ptosis syndrome|Marcus-Gunn phenomenon|pterygoid-levator synkinesis|abnormal innervation syndrome of eyelid|jaw-winking|Marcus Gunn syndrome|jaw-winking syndrome|familial Marcus Gunn phenomenon (subtype)|Marcus-Gunn syndrome|Maxillopalpebral synkinesis|Marcus Gunn phenomenon|jaw-blinking	http://purl.obolibrary.org/obo/MONDO_0007946	http://identifiers.org/snomedct/5127009|https://omim.org/entry/154600|Orphanet:91412|UMLS:C0266521|DOID:560|http://identifiers.org/mesh/C535908	ordo_disease
MONDO:0007947	biolink:Disease	Marfan syndrome	A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person.	MedDRA:10026829|DOID:14323|Orphanet:284963|ICD9:759.82|UMLS:C0024796|MESH:D008382|Orphanet:558|OMIM:154700|UMLS:CN202883|OMIM:610168|GARD:0006975|NCIT:C34807|SCTID:19346006	mondo.json	Marfan syndrome type 1|Marfan's syndrome|MFS|Marfan syndrome, type 1|MFS1|Marfan syndrome	http://purl.obolibrary.org/obo/MONDO_0007947	http://identifiers.org/snomedct/19346006|https://omim.org/entry/154700|UMLS:CN202883|http://identifiers.org/mesh/D008382|Orphanet:558|DOID:14323|NCIT:C34807|Orphanet:284963|UMLS:C0024796	clingen|ordo_disease|gard_rare|ordo_clinical_subtype|prototype_pattern
MONDO:0007944	biolink:Disease	Treacher Collins syndrome 1	Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene.	OMIM:154500|UMLS:CN119605	mondo.json	TCOF1 Treacher-Collins syndrome|Treacher-Collins syndrome caused by mutation in TCOF1|Treacher Collins syndrome|Treacher-Collins syndrome 1|Treacher Collins syndrome type 1|Treacher Collins-Franceschetti syndrome|mandibulofacial dysostosis|TREACHER COLLINS syndrome 1|TCS1	http://purl.obolibrary.org/obo/MONDO_0007944	https://omim.org/entry/154500|UMLS:CN119605	
MONDO:0007945	biolink:Disease	mannose 6-phosphate receptor recognition defect, Lebanese type		MESH:C563601|UMLS:C1835134|OMIM:154570	mondo.json	phosphodiester glycoside deficiency|mannose 6-phosphate receptor recognition defect, Lebanese type	http://purl.obolibrary.org/obo/MONDO_0007945	https://omim.org/entry/154570|http://identifiers.org/mesh/C563601|UMLS:C1835134	
MONDO:0007942	biolink:Disease	Mammastatin		MESH:C060120|OMIM:154370	mondo.json	Mammastatin	http://purl.obolibrary.org/obo/MONDO_0007942	http://identifiers.org/mesh/C060120|https://omim.org/entry/154370	
HGNC:2988	biolink:NamedThing	DOCK2			mondo.json		http://identifiers.org/hgnc/2988		
MONDO:0007943	biolink:Disease	Nager acrofacial dysostosis	Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.	MESH:C538184|UMLS:C0265245|DOID:5768|GARD:0000498|Orphanet:245|OMIM:154400|SCTID:35520007	mondo.json	preaxial acrodysostosis|split hand deformity-mandibulofacial dysostosis|preaxial acrofacial dysostosis|Nager acrofacial dysostosis syndrome|Nager syndrome|mandibulofacial dysostosis with preaxial limb anomalies|mandibulofacial dysostosis, Treacher Collins type, with limb anomalies|AFD1|preaxial manibulofacial dysostosis|Nager acrofacial dysostosis|AFD, Nager type|AFD|NAFD|acrofacial dysostosis 1, Nager type	http://purl.obolibrary.org/obo/MONDO_0007943	https://omim.org/entry/154400|http://identifiers.org/mesh/C538184|http://identifiers.org/snomedct/35520007|UMLS:C0265245|Orphanet:245|DOID:5768	gard_rare|ordo_malformation_syndrome
MONDO:0007940	biolink:Disease	malignant hyperthermia, susceptibility to, 3		OMIM:154276|MESH:C535696|GARD:0003365	mondo.json	malignant hyperpyrexia susceptibility type 3|malignant hyperthermia, susceptibility to, 3|malignant hyperthermia, susceptibility to, type 3|Mhs3|MHS3|malignant hyperthermia susceptibility type 3|malignant hyperthermia susceptibility 3	http://purl.obolibrary.org/obo/MONDO_0007940	http://identifiers.org/mesh/C535696|https://omim.org/entry/154276	gard_rare|predisposition
MONDO:0007941	biolink:Disease	malocclusion due to protuberant upper front teeth		OMIM:154300	mondo.json	malocclusion due to protuberant upper front teeth	http://purl.obolibrary.org/obo/MONDO_0007941	https://omim.org/entry/154300	
GO:0140029	biolink:NamedThing	exocytic process	The cellular processes that contribute to exocytosis.		mondo.json		http://purl.obolibrary.org/obo/GO_0140029		
MONDO:0019929	biolink:Disease	49,XXXXY syndrome	The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.	Orphanet:96264|MESH:D007713|SCTID:38847009|UMLS:C0265499|GARD:0005679|ICD9:758.81	mondo.json	49,XXXXY|XXXXY syndrome	http://purl.obolibrary.org/obo/MONDO_0019929	http://identifiers.org/snomedct/38847009|UMLS:C0265499|Orphanet:96264	ordo_malformation_syndrome|gard_rare
MONDO:0019937	biolink:Disease	obsolete rare gynecologic or obstetric disease		UMLS:CN206853|Orphanet:96344	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019937	Orphanet:96344|UMLS:CN206853	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0019936	biolink:Disease	obsolete rare otorhinolaryngological malformation		UMLS:CN227722|Orphanet:96333	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019936	UMLS:CN227722|Orphanet:96333	obsoletion_candidate|ordo_group_of_disorders|disease_grouping
MONDO:0019939	biolink:Disease	early-onset schizophrenia		Orphanet:96369	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019939	Orphanet:96369	ordo_disease
MONDO:0019938	biolink:Disease	anorectal malformation		MESH:C537771|ICD9:751.5|SCTID:33225004|Orphanet:96346	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019938	http://identifiers.org/snomedct/33225004|http://identifiers.org/mesh/C537771|Orphanet:96346	disease_grouping|ordo_group_of_disorders
MONDO:0019933	biolink:Disease	acromegaly	Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.	DOID:2449|MESH:D000172|NCIT:C84533|MedDRA:10000599|GARD:0005725|UMLS:C0001206|EFO:1001485|Orphanet:963|SCTID:74107003	mondo.json	Growth hormone excess|pituitary giant|somatotroph adenoma	http://purl.obolibrary.org/obo/MONDO_0019933	http://identifiers.org/snomedct/74107003|UMLS:C0001206|http://identifiers.org/mesh/D000172|Orphanet:963|DOID:2449|NCIT:C84533	ordo_disease|gard_rare
MONDO:0019932	biolink:Disease	isolated partial vaginal agenesis	Isolated partial vaginal agenesis is a rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal.	SCTID:87380008|Orphanet:96269	mondo.json	congenital absence of vagina	http://purl.obolibrary.org/obo/MONDO_0019932	Orphanet:96269|http://identifiers.org/snomedct/87380008	ordo_morphological_anomaly
MONDO:0019935	biolink:Disease	isochromosome Y		Orphanet:96325	mondo.json	Isochromosome type Y	http://purl.obolibrary.org/obo/MONDO_0019935	Orphanet:96325	disease_grouping|ordo_group_of_disorders
MONDO:0019934	biolink:Disease	polyploidy	Chromosomal disorder in which the chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.	SCTID:72991005|MESH:D011123|Orphanet:96321	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019934	http://identifiers.org/mesh/D011123|http://identifiers.org/snomedct/72991005|Orphanet:96321	ordo_group_of_disorders|disease_grouping
UBERON:0002169	biolink:AnatomicalEntity	alveolar sac			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002169		
HGNC:2995	biolink:NamedThing	DPAGT1			mondo.json		http://identifiers.org/hgnc/2995		
MONDO:0019931	biolink:Disease	Leydig cell hypoplasia due to partial LH resistance		UMLS:CN206848|Orphanet:96266	mondo.json	46,XY DSD due to partial LH resistance|46,XY DSD due to partial LH receptor inactivation|Leydig cell hypoplasia due to partial luteinizing hormone resistance|46,XY disorder of sex developement due to partial LH receptor inactivation|46,XY DSD due to partial luteinizing hormone resistance|46,XY disorder of sex developement due to partial luteinizing hormone resistance|Leydig cell hypoplasia due to partial LH receptor inactivation|46,XY disorder of sex developement due to partial LH resistance|Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation	http://purl.obolibrary.org/obo/MONDO_0019931	Orphanet:96266|UMLS:CN206848	ordo_clinical_subtype
MONDO:0019930	biolink:Disease	Leydig cell hypoplasia due to complete LH resistance		UMLS:CN206847|Orphanet:96265	mondo.json	Leydig cell hypoplasia due to complete LH receptor inactivation|46,XY disorder of sex development due to complete LH resistance|46,XY DSD due to complete luteinizing hormone resistance|46,XY DSD due to complete LH resistance|46,XY disorder of sex development due to complete luteinizing hormone resistance|Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation|Leydig cell hypoplasia due to complete luteinizing hormone resistance|46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation|46,XY DSD due to complete LH receptor inactivation|46,XY DSD due to complete luteinizing hormone receptor inactivation|46,XY disorder of sex development due to complete LH receptor inactivation	http://purl.obolibrary.org/obo/MONDO_0019930	Orphanet:96265|UMLS:CN206847	ordo_clinical_subtype
HGNC:2993	biolink:NamedThing	DONSON			mondo.json		http://identifiers.org/hgnc/2993		
UBERON:0002166	biolink:AnatomicalEntity	endocardium of atrium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002166		
UBERON:0002165	biolink:AnatomicalEntity	endocardium			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002165		
MONDO:0007939	biolink:Disease	malignant hyperthermia, susceptibility to, 2		MESH:C535695|GARD:0003364|OMIM:154275	mondo.json	malignant hyperthermia susceptibility type 2|malignant hyperthermia susceptibility 2|malignant hyperthermia, susceptibility to, type 2|Mhs2|malignant hyperpyrexia susceptibility type 2|malignant hyperthermia, susceptibility to, 2|MHS2	http://purl.obolibrary.org/obo/MONDO_0007939	https://omim.org/entry/154275|http://identifiers.org/mesh/C535695	clingen|gard_rare|predisposition
UBERON:0002168	biolink:AnatomicalEntity	left lung			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002168		
UBERON:0002167	biolink:AnatomicalEntity	right lung			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002167		
MONDO:0007959	biolink:Disease	medulloblastoma	A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity.	ICDO:9470/3|DOID:0050902|DOID:0060104|MedDRA:10027107|ONCOTREE:MBL|SCTID:443333004|UMLS:C0025149|NCIT:C3222|UMLS:C1334410|EFO:0002939|GARD:0007005|MESH:D008527|OMIM:155255|Orphanet:616	mondo.json	medulloblastoma|medulloblastoma, Desmoplastic|MDB|medulloblastoma with extensive nodularity|medulloblastoma, malignant|medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation|medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation|CNS PNET|CPNET|cerebellar medulloblastoma|cerebellum embryonal neoplasm|localized primitive neuroectodermal tumor|brain medulloblastoma|infratentorial primitive neuroectodermal tumor|medulloblastomas|medulloblastoma, somatic	http://purl.obolibrary.org/obo/MONDO_0007959	NCIT:C3222|UMLS:C1334410|UMLS:C0025149|http://identifiers.org/snomedct/443333004|Orphanet:616|http://identifiers.org/mesh/D008527|DOID:0050902|DOID:0060104|https://omim.org/entry/155255	gard_rare|ordo_disease
MONDO:0007957	biolink:Disease	mediosternal depigmentation line		OMIM:155200	mondo.json	mediosternal depigmentation line	http://purl.obolibrary.org/obo/MONDO_0007957	https://omim.org/entry/155200	
MONDO:0007958	biolink:Disease	familial medullary thyroid carcinoma	An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome.	UMLS:C1833921|OMIM:155240|DOID:0050547|MESH:C536911|Orphanet:99361	mondo.json	hereditary medullary thyroid gland carcinoma|hereditary thyroid medullary carcinoma|MTC|familial MTC|Fmtc|Mtc1|medullary thyroid carcinoma|thyroid carcinoma, familial medullary|familial medullary thyroid carcinoma	http://purl.obolibrary.org/obo/MONDO_0007958	Orphanet:99361|UMLS:C1833921|DOID:0050547|http://identifiers.org/mesh/C536911|https://omim.org/entry/155240	ordo_clinical_subtype
MONDO:0007955	biolink:Disease	Meckel diverticulum	A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction.	SCTID:37373007|EFO:1001036|NCIT:C12264|DOID:9487|MESH:D008467|OMIM:155140|ICD9:751.0|MedDRA:10027055	mondo.json	Meckel diverticulum|persistent vitelline duct|Meckel's diverticulum	http://purl.obolibrary.org/obo/MONDO_0007955	http://identifiers.org/mesh/D008467|http://identifiers.org/snomedct/37373007|https://omim.org/entry/155140|DOID:9487|NCIT:C12264	
MONDO:0007956	biolink:Disease	Pai syndrome	Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.	UMLS:C1835087|GARD:0003439|Orphanet:1993|MESH:C536135|OMIM:155145|SCTID:722201004	mondo.json	Pai syndrome|median cleft of upper lip with polyps of facial skin and nasal mucosa|cleft, Median, of upper lip with polyps of Facial skin and nasal mucosa|median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome|cleft, MEDIAN, of upper LIP with polyps of facial skin and nasal mucosa	http://purl.obolibrary.org/obo/MONDO_0007956	http://identifiers.org/mesh/C536135|http://identifiers.org/snomedct/722201004|Orphanet:1993|UMLS:C1835087|https://omim.org/entry/155145	gard_rare|ordo_malformation_syndrome
MONDO:0007953	biolink:Disease	Binder syndrome	A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex.	MESH:C536036|OMIM:155050|DOID:14683|UMLS:C0220692|Orphanet:1248|SCTID:715985008|GARD:0006992	mondo.json	MAXILLONASAL dysplasia, BINDER type|Binder syndrome|binder type maxillonasal dysplasia|maxillonasal dysplasia|Maxillonasal dysostosis|binder syndrome	http://purl.obolibrary.org/obo/MONDO_0007953	Orphanet:1248|http://identifiers.org/mesh/C536036|DOID:14683|https://omim.org/entry/155050|UMLS:C0220692|http://identifiers.org/snomedct/715985008	ordo_malformation_syndrome
MONDO:0007954	biolink:Disease	obsolete May-Hegglin anomaly			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007954		
MONDO:0007951	biolink:Disease	masticatory muscles, hypertrophy of		MESH:C563600|SCTID:699649006|OMIM:154850	mondo.json	masseter muscle Hypertrophy|masticatory muscles, hypertrophy of	http://purl.obolibrary.org/obo/MONDO_0007951	http://identifiers.org/mesh/C563600|https://omim.org/entry/154850|http://identifiers.org/snomedct/699649006	
MONDO:0007952	biolink:Disease	maxillofacial dysostosis		MESH:C563599|OMIM:155000|UMLS:C1835088|GARD:0006991	mondo.json	maxillofacial dysostosis	http://purl.obolibrary.org/obo/MONDO_0007952	https://omim.org/entry/155000|http://identifiers.org/mesh/C563599|UMLS:C1835088	gard_rare
CHEBI:35508	biolink:ChemicalSubstance	steroid fundamental parent			mondo.json	steroid fundamental parents	http://purl.obolibrary.org/obo/CHEBI_35508		
MONDO:0007950	biolink:Disease	mastocytosis	A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival.	NCIT:C84269|Orphanet:98292|GARD:0006987|ICD10CM:Q82.2|MedDRA:10026891|MESH:D008415|ONCOTREE:MCD|DOID:350|ICD10WHO:Q82.2|UMLS:C0024899	mondo.json	mastocytosis|Mast cell disease|mast cell hyperplasia|MAST cell disease|urticaria pigmentosa	http://purl.obolibrary.org/obo/MONDO_0007950	DOID:350|Orphanet:98292|http://identifiers.org/mesh/D008415|https://icd.who.int/browse10/2019/en#/Q82.2|UMLS:C0024899|NCIT:C84269|http://purl.bioontology.org/ontology/ICD10CM/Q82.2	disease_grouping|ordo_group_of_disorders
CHEBI:35507	biolink:ChemicalSubstance	natural product fundamental parent			mondo.json	natural product fundamental parents	http://purl.obolibrary.org/obo/CHEBI_35507		
MONDO:0019919	biolink:Disease	maternal uniparental disomy of chromosome 22		Orphanet:96188	mondo.json	maternal uniparental disomy of chromosome type 22|UPD(22)mat	http://purl.obolibrary.org/obo/MONDO_0019919	Orphanet:96188	ordo_malformation_syndrome
MONDO:0019918	biolink:Disease	maternal uniparental disomy of chromosome 21		Orphanet:96187	mondo.json	maternal uniparental disomy of chromosome type 21|UPD(21)mat	http://purl.obolibrary.org/obo/MONDO_0019918	Orphanet:96187	ordo_malformation_syndrome
MONDO:0019926	biolink:Disease	X small rings	X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.	SCTID:766760004|Orphanet:96201	mondo.json		http://purl.obolibrary.org/obo/MONDO_0019926	Orphanet:96201|http://identifiers.org/snomedct/766760004	ordo_malformation_syndrome
MONDO:0019925	biolink:Disease	paternal uniparental disomy of chromosome 21	Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.	Orphanet:96195|SCTID:766720000	mondo.json	paternal uniparental disomy of chromosome type 21|UPD(21)pat	http://purl.obolibrary.org/obo/MONDO_0019925	Orphanet:96195|http://identifiers.org/snomedct/766720000	ordo_malformation_syndrome
MONDO:0019928	biolink:Disease	48,XXXY syndrome	The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.	Orphanet:96263|NCIT:C89799|SCTID:78317008|UMLS:C0265498|MedDRA:10048228|ICD9:758.81|GARD:0005676	mondo.json	48, XXXY syndrome|XXXY syndrome	http://purl.obolibrary.org/obo/MONDO_0019928	NCIT:C89799|UMLS:C0265498|http://identifiers.org/snomedct/78317008|Orphanet:96263	gard_rare|ordo_malformation_syndrome
MONDO:0019927	biolink:Disease	growth hormone-producing pituitary gland neoplasm	An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces growth hormone.	UMLS:C0278864|NCIT:C7911	mondo.json	growth hormone producing tumor of pituitary|growth hormone secreting neoplasm of the pituitary gland|growth hormone secreting neoplasm of pituitary gland|growth hormone secreting neoplasm of the pituitary|growth hormone secreting pituitary gland tumor|growth hormone secreting tumor of the pituitary gland|growth hormone secreting tumor of pituitary gland|growth hormone secreting neoplasm of pituitary|somatotropinoma|growth hormone secreting pituitary tumor|Growth hormone-producing pituitary gland tumor|growth hormone secreting tumor of the pituitary|growth hormone producing neoplasm of the pituitary gland|growth hormone secreting tumor of pituitary|growth hormone producing neoplasm of pituitary gland|somatotroph tumor|growth hormone producing pituitary gland tumor|growth hormone producing pituitary neoplasm|growth hormone producing neoplasm of the pituitary|growth hormone producing neoplasm of pituitary|growth hormone producing pituitary gland neoplasm|growth hormone producing pituitary tumor|somatotropinoma of the pituitary gland|pituitary gland somatotropinoma|somatotroph neoplasm|somatotropinoma of pituitary gland|pituitary somatotropinoma|growth hormone producing tumor|growth hormone secreting pituitary neoplasm|growth hormone-producing pituitary gland neoplasm|somatotropinoma of the pituitary|somatotropinoma of pituitary|growth hormone producing tumor of the pituitary gland|growth hormone producing tumor of pituitary gland|growth hormone secreting pituitary gland neoplasm|growth hormone producing tumor of the pituitary	http://purl.obolibrary.org/obo/MONDO_0019927	UMLS:C0278864|NCIT:C7911	
MONDO:0019922	biolink:Disease	paternal uniparental disomy of chromosome 7	Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).	Orphanet:96192|SCTID:766721001	mondo.json	paternal uniparental disomy of chromosome type 7|UPD(7)pat	http://purl.obolibrary.org/obo/MONDO_0019922	http://identifiers.org/snomedct/766721001|Orphanet:96192	ordo_malformation_syndrome
MONDO:0019921	biolink:Disease	paternal uniparental disomy of chromosome 6	Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.	Orphanet:96191	mondo.json	paternal uniparental disomy of chromosome type 6|UPD(6)pat	http://purl.obolibrary.org/obo/MONDO_0019921	Orphanet:96191	ordo_malformation_syndrome
MONDO:0019924	biolink:Disease	paternal uniparental disomy of chromosome 20	Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20.	SCTID:715736008|Orphanet:96194|UMLS:C4275028	mondo.json	paternal UPD20|paternal uniparental disomy of chromosome type 20|UPD(20)pat|paternal UPD(20)	http://purl.obolibrary.org/obo/MONDO_0019924	UMLS:C4275028|Orphanet:96194|http://identifiers.org/snomedct/715736008	ordo_malformation_syndrome
GO:0140014	biolink:NamedThing	mitotic nuclear division	A mitotic cell cycle process comprising the steps by which the nucleus of a eukaryotic cell divides; the process involves condensation of chromosomal DNA into a highly compacted form. Canonically, mitosis produces two daughter nuclei whose chromosome complement is identical to that of the mother cell.		mondo.json	mitosis	http://purl.obolibrary.org/obo/GO_0140014		
GO:0140013	biolink:NamedThing	meiotic nuclear division	One of the two nuclear divisions that occur as part of the meiotic cell cycle.		mondo.json	meiosis	http://purl.obolibrary.org/obo/GO_0140013		
MONDO:0019923	biolink:Disease	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11		Orphanet:96193|UMLS:CN206842	mondo.json	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome type 11|UPD(11)pat|Mosaic paternal uniparental disomy of chromosome 11	http://purl.obolibrary.org/obo/MONDO_0019923	Orphanet:96193|UMLS:CN206842	ordo_etiological_subtype
NCBITaxon:2750822	biolink:OrganismalEntity	unclassified Mycobacterium avium complex (MAC)		GC_ID:11	mondo.json		http://purl.obolibrary.org/obo/NCBITaxon_2750822		
MONDO:0019920	biolink:Disease	paternal uniparental disomy of chromosome 5	Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.	Orphanet:96190	mondo.json	paternal uniparental disomy of chromosome type 5|UPD(5)pat	http://purl.obolibrary.org/obo/MONDO_0019920	Orphanet:96190	ordo_malformation_syndrome
MONDO:0007926	biolink:Disease	obsolete Waldenstrom macroglobulinemia			mondo.json		http://purl.obolibrary.org/obo/MONDO_0007926		
MONDO:0007927	biolink:Disease	congenital macroglossia		MESH:C531735|OMIM:153630|SCTID:270516002|Orphanet:2430|ICD9:750.15	mondo.json	macroglossia	http://purl.obolibrary.org/obo/MONDO_0007927	http://identifiers.org/mesh/C531735|https://omim.org/entry/153630|Orphanet:2430|http://identifiers.org/snomedct/270516002	ordo_malformation_syndrome
MONDO:0007924	biolink:Disease	Bannayan-Riley-Ruvalcaba syndrome	Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.	UMLS:C0265326|OMIM:153480|SCTID:21984008|DOID:0050657|NCIT:C3939|GARD:0005887|ICD9:759.6|Orphanet:109	mondo.json	Bannayan-Riley-Ruvalcaba syndrome|Myhre-Riley-Smith syndrome|RILEY-SMITH syndrome|Bannayan syndrome|Riley-Smith syndrome|macrocephaly with multiple lipomas and hemangiomas|macrocephaly multiple lipomas and hemangiomata|macrocephaly pseudopapilledema and multiple hemangiomas|Ruvalcaba-MYHRE-SMITH syndrome|Ruvalcaba-Myhre-Smith syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|macrocephaly, multiple lipomas, and hemangiomata|BZS|RMSS|BRRS|Bannayan-Zonana syndrome|Ruvalcaba -Myhre-Smith syndrome	http://purl.obolibrary.org/obo/MONDO_0007924	NCIT:C3939|Orphanet:109|UMLS:C0265326|DOID:0050657|http://identifiers.org/snomedct/21984008	ordo_malformation_syndrome|gard_rare
MONDO:0007925	biolink:Disease	myelodysplastic syndrome associated with isolated del(5q)	A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)	UMLS:CN206233|OMIM:153550|NCIT:C6867|DOID:0090016|SCTID:277597005|Orphanet:86841|ICDO:9986/3|MESH:C535323|GARD:0008723	mondo.json	5Q minus syndrome|myelodysplastic syndrome with 5q deletion|5q deletion syndrome|macrocytic Anemia, refractory, due to 5Q deletion|5q- syndrome, refractory macrocytic anemia due to 5q deletion|macrocytic anemia, refractory, due to 5q deletion, somatic|MAR|5q- syndrome|megakaryocytes, unilobular nucleated|refractory macrocytic anemia due to 5q deletion|5q syndrome|myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality|chromosome 5q deletion syndrome|myelodysplastic syndrome associated with isolated del (5q) chromosome Abnormality|5Q- syndrome|myelodysplastic syndrome with isolated del(5q)	http://purl.obolibrary.org/obo/MONDO_0007925	NCIT:C6867|https://omim.org/entry/153550|Orphanet:86841|http://identifiers.org/snomedct/277597005|http://identifiers.org/mesh/C535323|DOID:0090016|UMLS:CN206233	ordo_disease
MONDO:0007922	biolink:Disease	lymphedema-distichiasis syndrome	Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.	ICD10CM:Q82.0|SCTID:8634009|OMIM:153400|ICD9:743.63|NCIT:C128191|DOID:0111509|UMLS:C0265345|GARD:0000333|MESH:C537710|Orphanet:33001	mondo.json	lymphedema with distichiasis|lymphedema-distichiasis syndrome with renal disease and diabetes mellitus|hereditary lymphedema-distichiasis syndrome (subtype)|lymphedema-distichiasis syndrome	http://purl.obolibrary.org/obo/MONDO_0007922	Orphanet:33001|https://omim.org/entry/153400|UMLS:C0265345|NCIT:C128191|http://identifiers.org/mesh/C537710|DOID:0111509|http://identifiers.org/snomedct/8634009	ordo_malformation_syndrome|gard_rare
MONDO:0007923	biolink:Disease	macrocephaly, benign familial		MESH:C537717|OMIM:153470|GARD:0000147	mondo.json	macrocephaly, benign familial|benign familial macrocephaly|Cole-Hughes syndrome|benign familial megalencephaly	http://purl.obolibrary.org/obo/MONDO_0007923	https://omim.org/entry/153470|http://identifiers.org/mesh/C537717	gard_rare
MONDO:0007920	biolink:Disease	lymphatic malformation 5	A frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty.	OMIM:153200|SCTID:230325003|MESH:C562467|Orphanet:90186|DOID:0070213|MedDRA:10027138|SCTID:400040008|GARD:0003324|GARD:3324	mondo.json	LMPH2|lymphedema, late-onset|Meige disease|late-onset primary lymphedema|late-onset lymphedema|lymphedema, hereditary, II|lymphedema hereditary type 2|hereditary lymphedema type II|lymphedema preacox|Meige lymphedema|lymphedema praecox	http://purl.obolibrary.org/obo/MONDO_0007920	http://identifiers.org/mesh/C562467|DOID:0070213|https://omim.org/entry/153200|Orphanet:90186|http://identifiers.org/snomedct/400040008	ordo_disease
MONDO:0007921	biolink:Disease	yellow nail syndrome	A very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema.	MESH:D056684|GARD:0000184|SCTID:400211001|ICD9:757.0|ICD10CM:L60.5|NCIT:C85238|DOID:0050468|ICD9:703.8|UMLS:C0221348|EFO:1001452|Orphanet:662|MedDRA:10048244|OMIM:153300	mondo.json	lymphedema and Yellow nails|YNS|yellow nail syndrome|Yns|lymphedema with yellow nails	http://purl.obolibrary.org/obo/MONDO_0007921	https://omim.org/entry/153300|http://identifiers.org/mesh/D056684|http://identifiers.org/snomedct/400211001|DOID:0050468|http://purl.bioontology.org/ontology/ICD10CM/L60.5|Orphanet:662|UMLS:C0221348|NCIT:C85238	ordo_disease|gard_rare
NCBITaxon:68336	biolink:OrganismalEntity	Bacteroidetes/Chlorobi group		GC_ID:11	mondo.json	Cytophagales/Green sulfur bacteria group|CFB/Green sulfur bacteria group|CFB/Chlorobi group	http://purl.obolibrary.org/obo/NCBITaxon_68336		
MONDO:0019908	biolink:Disease	ring chromosome 15	Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability ; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous (de novo) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation. Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists.	Orphanet:96177|SCTID:763405000|MESH:C538035|UMLS:CN035931|GARD:0001328	mondo.json	chromosome 15 ring|Ring 15|Ring chromosome type 15|R15|Ring chromosome 15 syndrome	http://purl.obolibrary.org/obo/MONDO_0019908	Orphanet:96177|http://identifiers.org/snomedct/763405000|UMLS:CN035931|http://identifiers.org/mesh/C538035	ordo_malformation_syndrome|gard_rare
MONDO:0019907	biolink:Disease	ring chromosome 13	Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.	MESH:C538303|Orphanet:96176|GARD:0006069|SCTID:726723004	mondo.json	R13|Ring chromosome type 13|Ring chromosome 13 syndrome|chromosome 13 ring|Ring 13	http://purl.obolibrary.org/obo/MONDO_0019907	http://identifiers.org/snomedct/726723004|http://identifiers.org/mesh/C538303|Orphanet:96176	gard_rare|ordo_malformation_syndrome
MONDO:0019909	biolink:Disease	ring chromosome 16	Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature.	SCTID:763406004|Orphanet:96178|GARD:0010855	mondo.json	Ring chromosome 16 syndrome|R16|Ring chromosome type 16|Ring 16|chromosome 16 ring	http://purl.obolibrary.org/obo/MONDO_0019909	Orphanet:96178|http://identifiers.org/snomedct/763406004	ordo_malformation_syndrome|gard_rare
MONDO:0019915	biolink:Disease	maternal uniparental disomy of chromosome 14	Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).	Orphanet:96184	mondo.json	maternal uniparental disomy of chromosome type 14|UPD(14)mat	http://purl.obolibrary.org/obo/MONDO_0019915	Orphanet:96184	ordo_etiological_subtype
MONDO:0019914	biolink:Disease	maternal uniparental disomy of chromosome 9	Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.	Orphanet:96183|SCTID:766240006	mondo.json	UPD(9)mat|maternal uniparental disomy of chromosome type 9	http://purl.obolibrary.org/obo/MONDO_0019914	http://identifiers.org/snomedct/766240006|Orphanet:96183	ordo_malformation_syndrome
MONDO:0019917	biolink:Disease	maternal uniparental disomy of chromosome 20	Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.	SCTID:715735007|OMIM:617352|DOID:0111714|Orphanet:96186	mondo.json	maternal UPD(20)|uniparental disomy, maternal, chromosome 20|maternal uniparental disomy of chromosome type 20|UPD(20)mat|MULCHANDANI-BHOJ-CONLIN syndrome|MBCS	http://purl.obolibrary.org/obo/MONDO_0019917	http://identifiers.org/snomedct/715735007|https://omim.org/entry/617352|Orphanet:96186|DOID:0111714	ordo_malformation_syndrome
MONDO:0019916	biolink:Disease	maternal uniparental disomy of chromosome 16		Orphanet:96185	mondo.json	maternal uniparental disomy of chromosome type 16|UPD(16)mat	http://purl.obolibrary.org/obo/MONDO_0019916	Orphanet:96185	ordo_malformation_syndrome
MONDO:0019911	biolink:Disease	maternal uniparental disomy of chromosome 4	Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.	Orphanet:96180|SCTID:766238001	mondo.json	UPD(4)mat|maternal uniparental disomy of chromosome type 4	http://purl.obolibrary.org/obo/MONDO_0019911	http://identifiers.org/snomedct/766238001|Orphanet:96180	ordo_malformation_syndrome
MONDO:0019910	biolink:Disease	maternal uniparental disomy of chromosome 2	Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.	SCTID:766237006|Orphanet:96179	mondo.json	UPD(2)mat|maternal uniparental disomy of chromosome type 2	http://purl.obolibrary.org/obo/MONDO_0019910	http://identifiers.org/snomedct/766237006|Orphanet:96179	ordo_malformation_syndrome
MONDO:0019913	biolink:Disease	silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders).	Orphanet:96182|UMLS:CN206841	mondo.json	Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7|UPD(7)mat	http://purl.obolibrary.org/obo/MONDO_0019913	UMLS:CN206841|Orphanet:96182	ordo_etiological_subtype
MONDO:0019912	biolink:Disease	maternal uniparental disomy of chromosome 6	Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.	SCTID:766239009|Orphanet:96181	mondo.json	UPD(6)mat|maternal uniparental disomy of chromosome type 6	http://purl.obolibrary.org/obo/MONDO_0019912	http://identifiers.org/snomedct/766239009|Orphanet:96181	ordo_malformation_syndrome
UBERON:0002148	biolink:AnatomicalEntity	locus ceruleus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002148		
UBERON:0002149	biolink:AnatomicalEntity	superior salivatory nucleus			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002149		
MONDO:0007919	biolink:Disease	lymphatic malformation 1	Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene.	SCTID:399889006|DOID:0070210|Orphanet:79452|GARD:0007220|OMIM:153100	mondo.json	lymphedema, early-onset|FLT4 hereditary lymphedema|Nonne’s syndrome|LMPH1A|Nonne-Milroy disease|primary congenital lymphedema|Nonne-Milroy lymphedema|lymphedema, hereditary, 1A|hereditary lymphedema caused by mutation in FLT4|congenital hereditary lymphedema|Nonne-Milroy syndrome|early onset lymphedema|congenital primary lymphedema|hereditary lymphedema 1|lymphedema, hereditary, type 1A|hereditary lymphedema type I|Milroy disease	http://purl.obolibrary.org/obo/MONDO_0007919	Orphanet:79452|DOID:0070210|https://omim.org/entry/153100|http://identifiers.org/snomedct/399889006	
MONDO:0007917	biolink:Disease	lymphedema-cerebral arteriovenous anomaly syndrome	Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children.	OMIM:152900|GARD:0009217|UMLS:C1835272|MESH:C563612|Orphanet:86914	mondo.json	lymphedema and cerebral arteriovenous anomaly|primary pulmonary hypertension, cerebrovascular malformation and lymphedema feet	http://purl.obolibrary.org/obo/MONDO_0007917	http://identifiers.org/mesh/C563612|UMLS:C1835272|https://omim.org/entry/152900|Orphanet:86914	ordo_malformation_syndrome
UBERON:0002146	biolink:AnatomicalEntity	pulmonary valve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002146		
MONDO:0007918	biolink:Disease	microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.	GARD:0003622|MESH:C537711|DOID:0060349|UMLS:C1835265|Orphanet:2526|OMIM:152950	mondo.json	Cdmmr syndrome|MCLMR|lymphedema, microcephaly, chorioretinopathy syndrome|microcephaly and chorioretinopathy with or without intellectual disability, autosomal dominant|microcephaly, lymphedema, chorioretinal dysplasia syndrome|MLCRD|Mlcrd syndrome|lymphedema and retinal folds with ficrocephaly and microphthalmos|microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability|lymphedema and retinal Folds with microcephaly and microphthalmos|lymphedema, microcephaly and chorioretinopathy syndrome|chorioretinal dysplasia-microcephaly-mental retardation syndrome|microcephaly with or without chorioretinopathy, lymphedema, or mental retardation|microcephaly-lymphedema-chorioretinopathy syndrome|chorioretinal dysplasia-microcephaly-intellectual disability syndrome|microcephaly lymphedema chorioretinal dysplasia|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007918	DOID:0060349|UMLS:C1835265|Orphanet:2526|https://omim.org/entry/152950|http://identifiers.org/mesh/C537711	ordo_malformation_syndrome
MONDO:0007937	biolink:Disease	renal hypomagnesemia 2	Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.	Orphanet:34528|GARD:0003350|UMLS:C4511005|MESH:C537152|OMIM:154020|DOID:0060885|UMLS:C1835171|SCTID:725393000	mondo.json	isolated autosomal dominant hypomagnesemia|magnesium wasting, renal|isolated renal magnesium wasting|hypomagnesemia 2, renal|HOMG2|magnesium loss, isolated renal|familial primary hypomagnesemia caused by mutation in FXYD2|primary hypomagnesemia caused by mutation in FXYD2|autosomal dominant primary hypomagnesemia with hypocalciuria|FXYD2 primary hypomagnesemia|FXYD2 familial primary hypomagnesemia|renal hypomagnesemia type 2	http://purl.obolibrary.org/obo/MONDO_0007937	UMLS:C1835171|DOID:0060885|https://omim.org/entry/154020|Orphanet:34528|http://identifiers.org/mesh/C537152|http://identifiers.org/snomedct/725393000|UMLS:C4511005	gard_rare|ordo_disease
MONDO:0007938	biolink:Disease	46,XY sex reversal 4	Sex reversal in an individual associated with a 9p24.3 deletion.	DOID:0111771|MESH:C567887|OMIM:154230|NCIT:C132270	mondo.json	46XY sex reversal 4, Isolated cases|46,XY gonadal dysgenesis, partial or complete, with 9P24.3 deletion|46,XY SEX reversal 4|46,XY sex reversal 4|46,XY Sex reversal type 4|chromosome 9P24.3 deletion syndrome|SRXY4	http://purl.obolibrary.org/obo/MONDO_0007938	https://omim.org/entry/154230|http://identifiers.org/mesh/C567887|NCIT:C132270|DOID:0111771	
MONDO:0007935	biolink:Disease	cystoid macular edema	An autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis.	UMLS:C0024440|NCIT:C34794|OMIM:153880|UMLS:C0730317|ICD10CM:H35.5|DOID:4447|Orphanet:75381|SCTID:312921000	mondo.json	DCMD|familial macular edema|macular edema, cystoid|autosomal dominant cystoid macular edema|cystoid macular dystrophy|macular dystrophy, dominant cystoid|Mddc	http://purl.obolibrary.org/obo/MONDO_0007935	UMLS:C0730317|Orphanet:75381|http://identifiers.org/snomedct/312921000|https://omim.org/entry/153880|DOID:4447|NCIT:C34794|UMLS:C0024440	ordo_disease
MONDO:0007936	biolink:Disease	macular dystrophy, fenestrated sheen type		OMIM:153890|MESH:C563607|UMLS:C1835173	mondo.json	macular dystrophy, fenestrated sheen type	http://purl.obolibrary.org/obo/MONDO_0007936	UMLS:C1835173|http://identifiers.org/mesh/C563607|https://omim.org/entry/153890	
MONDO:0007933	biolink:Disease	vitelliform macular dystrophy 1		OMIM:153840|MESH:C537832|GARD:0010120	mondo.json	VMD1|macular dystrophy, vitelliform, 1|macular dystrophy, atypical vitelliform|vitelliform macular dystrophy, atypical	http://purl.obolibrary.org/obo/MONDO_0007933	https://omim.org/entry/153840|http://identifiers.org/mesh/C537832	
MONDO:0007934	biolink:Disease	benign concentric annular macular dystrophy	Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bullBs eye configuration.	Orphanet:251287|UMLS:C4304667|OMIM:153870|MESH:C537833|SCTID:719520001|ICD10CM:H35.5|GARD:0009887	mondo.json	macular dystrophy, concentric annular|retinitis pigmentosa 91|macular dystrophy, benign concentric annular|Mcdca|maculopathy, bull's eye	http://purl.obolibrary.org/obo/MONDO_0007934	https://omim.org/entry/153870|UMLS:C4304667|http://identifiers.org/mesh/C537833|http://identifiers.org/snomedct/719520001|Orphanet:251287	ordo_disease
UBERON:0002129	biolink:AnatomicalEntity	cerebellar cortex			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002129		
MONDO:0007931	biolink:Disease	vitelliform macular dystrophy 2	Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.	Orphanet:1243|GARD:0000182|SCTID:763387005|OMIM:153700|GARD:0010301|ICD10CM:H35.5	mondo.json	Best disease|early-onset vitelliform macular dystrophy|BMD|macular dystrophy, vitelliform, 2|macular dystrophy, vitelliform, type 2|vitelliform macular dystrophy type 2|BEST1 retinopathy|Best macular dystrophy|vitelliform macular dystrophy, type 2|polymorphic vitelline macular degeneration|Best vitelliform macular dystrophy, multifocal|macular degeneration, polymorphic vitelline|vitelliform macular dystrophy, early-onset|vitelliform macular dystrophy, juvenile-onset|juvenile-onset vitelliform macular dystrophy|VMD2|BVMD|macular Degeneration, polymorphic vitelline	http://purl.obolibrary.org/obo/MONDO_0007931	https://omim.org/entry/153700|Orphanet:1243|http://identifiers.org/snomedct/763387005	ordo_disease|gard_rare
MONDO:0007932	biolink:Disease	age related macular degeneration 2	An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22.	MESH:C562479|OMIM:153800|UMLS:C3495438|DOID:0110015	mondo.json	macular Degeneration, Senile|ARMD2|age related macular degeneration type 2|macular degeneration, age-related, 2|maculopathy, age-related, 2|macular Degeneration, age-related, type 2	http://purl.obolibrary.org/obo/MONDO_0007932	https://omim.org/entry/153800|UMLS:C3495438|DOID:0110015|http://identifiers.org/mesh/C562479	
FOODON:03411607	biolink:NamedThing	nut or edible seed producing plant			mondo.json		http://purl.obolibrary.org/obo/FOODON_03411607		
MONDO:0007930	biolink:Disease	Bernard-Soulier syndrome, type A2, autosomal dominant	A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p.	OMIM:153670|UMLS:C3277076|DOID:0111059	mondo.json	Bernard-Soulier syndrome, type A2, autosomal dominant|BSSA2|Bernard-Soulier syndrome, type A2 (dominant)|Bernard-Soulier syndrome type A2	http://purl.obolibrary.org/obo/MONDO_0007930	https://omim.org/entry/153670|DOID:0111059|UMLS:C3277076	
GO:0140039	biolink:NamedThing	cell-cell adhesion in response to extracellular stimulus	The attachment of one cell to another cell via adhesion molecules as a result of an extracellular stimulus.		mondo.json		http://purl.obolibrary.org/obo/GO_0140039		
MONDO:0019904	biolink:Disease	ring chromosome 3	Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias.	GARD:0010839|SCTID:765486004|NCIT:C121982|Orphanet:96172|UMLS:C4050314	mondo.json	Ring chromosome 3 syndrome|R3|rose cluster 3|chromosome 3 ring|Ring 3|Ring chromosome type 3	http://purl.obolibrary.org/obo/MONDO_0019904	UMLS:C4050314|http://identifiers.org/snomedct/765486004|NCIT:C121982|Orphanet:96172	gard_rare|ordo_malformation_syndrome
UBERON:0004792	biolink:AnatomicalEntity	secretion of endocrine pancreas			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004792		
MONDO:0019903	biolink:Disease	ring chromosome 2	Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism).	GARD:0010837|Orphanet:96171|NCIT:C121981|SCTID:765485000|UMLS:C4707448	mondo.json	Ring chromosome 2 syndrome|R2|chromosome 2 ring|rose cluster 2|Ring 2|Ring chromosome type 2	http://purl.obolibrary.org/obo/MONDO_0019903	NCIT:C121981|http://identifiers.org/snomedct/765485000|Orphanet:96171|UMLS:C4707448	gard_rare|ordo_malformation_syndrome
UBERON:0004793	biolink:AnatomicalEntity	secretion of exocrine pancreas			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004793		
MONDO:0019906	biolink:Disease	ring chromosome 11	Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.	Orphanet:96175|EFO:0002849|GARD:0010846|ICD9:758.89|UMLS:C0265444|SCTID:111310003	mondo.json	RC11|chromosome 11 ring|Ring chromosome 11 syndrome|Ring chromosome type 11|r11|r(11) syndrome|Ring 11	http://purl.obolibrary.org/obo/MONDO_0019906	http://identifiers.org/snomedct/111310003|UMLS:C0265444|Orphanet:96175	gard_rare|ordo_malformation_syndrome
UBERON:0004790	biolink:AnatomicalEntity	skin mucous gland			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004790		
MONDO:0019905	biolink:Disease	ring chromosome 9	Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.	Orphanet:96173|MESH:C538022|UMLS:CN036105|GARD:0001348|SCTID:60650002	mondo.json	r9|chromosome 9 ring|Ring chromosome type 9|Ring chromosome 9 syndrome|Ring 9	http://purl.obolibrary.org/obo/MONDO_0019905	UMLS:CN036105|http://identifiers.org/snomedct/60650002|http://identifiers.org/mesh/C538022|Orphanet:96173	gard_rare|ordo_malformation_syndrome
UBERON:0004791	biolink:AnatomicalEntity	thymus trabecula			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004791		
MONDO:0019900	biolink:Disease	non-distal monosomy 12q		Orphanet:96160	mondo.json	non-distal deletion 12q|non-telomeric monosomy 12q|non-distal monosomy type 12q	http://purl.obolibrary.org/obo/MONDO_0019900	Orphanet:96160	ordo_malformation_syndrome
MONDO:0019902	biolink:Disease	monosomy 13q34	Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.	SCTID:766716004|Orphanet:96168	mondo.json	distal deletion 13q34|monosomy type 13q34|Del(13)(q34)|subtelomeric deletion 13q34	http://purl.obolibrary.org/obo/MONDO_0019902	http://identifiers.org/snomedct/766716004|Orphanet:96168	ordo_malformation_syndrome
MONDO:0019901	biolink:Disease	non-distal monosomy 20q		Orphanet:96164	mondo.json	non-distal deletion 20q|non-telomeric monosomy 20q|non-distal monosomy type 20q	http://purl.obolibrary.org/obo/MONDO_0019901	Orphanet:96164	ordo_malformation_syndrome
UBERON:0002137	biolink:AnatomicalEntity	aortic valve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002137		
UBERON:0002133	biolink:AnatomicalEntity	atrioventricular valve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002133		
UBERON:0004796	biolink:AnatomicalEntity	prostate gland secretion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004796		
UBERON:0004797	biolink:AnatomicalEntity	blood vessel layer			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004797		
MONDO:0007928	biolink:Disease	obsolete Fechtner syndrome		NCIT:C131642|UMLS:C0403445	mondo.json		http://purl.obolibrary.org/obo/MONDO_0007928	NCIT:C131642|UMLS:C0403445	
UBERON:0004794	biolink:AnatomicalEntity	esophagus secretion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004794		
UBERON:0002135	biolink:AnatomicalEntity	mitral valve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002135		
MONDO:0007929	biolink:Disease	obsolete Epstein syndrome		UMLS:C0398641|NCIT:C131639	mondo.json		http://purl.obolibrary.org/obo/MONDO_0007929	NCIT:C131639|UMLS:C0398641	
UBERON:0002134	biolink:AnatomicalEntity	tricuspid valve			mondo.json		http://purl.obolibrary.org/obo/UBERON_0002134		
UBERON:0004795	biolink:AnatomicalEntity	pancreas secretion			mondo.json		http://purl.obolibrary.org/obo/UBERON_0004795		
PATO:0002418	biolink:NamedThing				Graph				
PATO:0070047	biolink:NamedThing				Graph				
PATO:0070046	biolink:NamedThing				Graph				
OIO:Subset	biolink:NamedThing				Graph				
owl:topObjectProperty	biolink:NamedThing				Graph